 body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CGTTGATGTTCTTCTCTGTGA	0.642																																						ENST00000262768.7																			0				central_nervous_system(2)	2						c.(541-543)aaG>aaA		TIMP metallopeptidase inhibitor 2							105	81	89					17																	76851869		2203	4300	6503	SO:0001819	synonymous_variant	7077						metal ion binding|metalloendopeptidase inhibitor activity	g.chr17:76851869C>T		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"tissue inhibitor of metalloproteinase 2"			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.543G>A	17.37:g.76851869C>T						TIMP2_ENST00000586057.1_Silent_p.K104K|TIMP2_ENST00000536189.2_Silent_p.K104K|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Silent_p.K104K	p.K181K	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)		5	841	-			181					Q16121|Q93006|Q9UDF7	Silent	SNP	ENST00000262768.7	37	c.543G>A	CCDS11758.1																																																																																				0.642	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		30	52	0	0	0	1	0	30	52					T	76851869	C	T	76851869	2	4	213	1	0	0	0	0	0	0	0	1	15915	912	32	2		2	TIMP2	17	76851869	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	10460654	76851869	4343341	63	27110											
FAM38B	63895	broad.mit.edu	37	chr18	10671755	10671755	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaatcacaaggacaacTgaagcatataatcccataat	4	11	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:10671755T>A	ENST00000503781.3	-	52	8027	c.8028A>T	c.(8026-8028)tcA>tcT	p.S2676S	PIEZO2_ENST00000285141.4_Silent_p.S468S|PIEZO2_ENST00000302079.6_Silent_p.S2613S|PIEZO2_ENST00000580640.1_Silent_p.S2701S|PIEZO2_ENST00000538948.1_Silent_p.S633S|PIEZO2_ENST00000581680.1_5'UTR	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2676					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)										CAAGGACAACTGAAGCATATA	0.323																																						ENST00000302079.6																			0											c.(7837-7839)tcA>tcT		piezo-type mechanosensitive ion channel component 2							63	66	65					18																	10671755		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10671755T>A	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.8028A>T	18.37:g.10671755T>A						PIEZO2_ENST00000503781.3_Silent_p.S2676S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Silent_p.S633S|PIEZO2_ENST00000580640.1_Silent_p.S2701S|PIEZO2_ENST00000285141.4_Silent_p.S468S	p.S2613S			Q9H5I5	PIEZ2_HUMAN			51	7838	-			2676					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.7839A>T																																																																																					0.323	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		13	22	0	0	0	1	0	13	22					A	10671755	T	A	10671755	2	1	213	1	0	0	0	0	0	0	0	1	5555	1567	55	5		5	FAM38B	18	10671755	Silent	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08		10671755	67405493	64	27111											
AQP4	361	broad.mit.edu	37	chr18	24445621	24445621	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggcaaagaaggacttaCccccaccgccttgctgtggg	11	12	0	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:24445621C>A	ENST00000383168.4	-	1	161		c.e1+1		AQP4_ENST00000581374.1_5'Flank|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_5'Flank	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4						carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAAGGACTTACCCCCACCGCC	0.517																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.e1+1		aquaporin 4							123	125	124					18																	24445621		2203	4300	6503	SO:0001630	splice_region_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24445621C>A	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.32+1G>T	18.37:g.24445621C>A						AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA		NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			1	161	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)							P78564	Splice_Site	SNP	ENST00000383168.4	37		CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556039	0.65425	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AQP4	22699619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.506000	0.60428	2.603000	0.88011	0.655000	0.94253	.		0.517	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028	Intron	21	90	1	0	6.21321e-17	1	6.55089e-17	21	90					A	24445621	C	A	24445621	5	1	213	1	0	0	0	0	0	0	1	0	828	521	18	4	958	4	AQP4	18	24445621	Splice_Site	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	13773866	24445621	53631627	65	27112											
FHOD3	80206	broad.mit.edu	37	chr18	34156464	34156464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaatggagtaataaacCgcaatgaaaccattcagtgg	10	6	1	2	rs143579901	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:34156464C>T	ENST00000359247.4	+	6	562	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000257209.4_Missense_Mutation_p.R188C|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	188	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGTAATAAACCGCAATGAAAC	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		17584	0.002		0.0	False		,,,				2504	0.0					ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(562-564)Cgc>Tgc		formin homology 2 domain containing 3		C	CYS/ARG	0,4406		0,0,2203	149	131	137		562	5.7	1	18	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FHOD3	NM_025135.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	188/1440	34156464	2,13004	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34156464C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.562C>T	18.37:g.34156464C>T	ENSP00000352186:p.Arg188Cys					FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188C|FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C	p.R188C	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			6	684	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	188			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.562C>T		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079880	0.55753	0.0	2.33E-4	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.19250	2.16;2.16;2.16	5.73	5.73	0.89815	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.100549	0.64402	D	0.000002	T	0.16685	0.0401	N	0.08118	0	0.27841	N	0.941109	B;B;D	0.56968	0.377;0.309;0.978	B;B;P	0.49361	0.015;0.014;0.608	T	0.07271	-1.0781	10	0.87932	D	0	.	12.345	0.55116	0.1686:0.8314:0.0:0.0	.	188;188;188	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	C	188	ENSP00000257209:R188C;ENSP00000352186:R188C;ENSP00000411430:R188C	ENSP00000257209:R188C	R	+	1	0	FHOD3	32410462	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.458000	0.60095	2.694000	0.91930	0.655000	0.94253	CGC		0.373	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		17	23	0	0	0	1	0	17	23					T	34156464	C	T	34156464	3	4	213	1	0	0	0	0	1	0	0	0	5883	652	23	1	584	1	FHOD3	18	34156464	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	9710843	34156464	43920784	66	27113											
KIAA0427	9811	broad.mit.edu	37	chr18	46284511	46284511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaggcaggcgcacaccGcaatgccaaagagaccatga	15	11	0	2	rs373686942		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:46284511G>A	ENST00000256413.3	+	8	1101	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	269	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						GGCGCACACCGCAATGCCAAA	0.642																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(805-807)cGc>cAc		CBP80/20-dependent translation initiation factor		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92	86	88		806,806	5.2	1	18		88	0,8600		0,0,4300	no	missense,missense	CTIF	NM_001142397.1,NM_014772.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	269/601,269/599	46284511	1,13005	2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284511G>A	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.806G>A	18.37:g.46284511G>A	ENSP00000256413:p.Arg269His					CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1101	+			269			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.806G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315040	0.81358	2.27E-4	0.0	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.53423	0.62;0.62	5.19	5.19	0.71726	.	0.526840	0.20022	N	0.100884	T	0.47581	0.1453	L	0.40543	1.245	0.41689	D	0.989338	P;P	0.52170	0.951;0.832	P;B	0.46076	0.503;0.306	T	0.53892	-0.8374	10	0.87932	D	0	-14.0903	16.9045	0.86123	0.0:0.0:1.0:0.0	.	269;269	O43310-2;O43310	.;CTIF_HUMAN	H	269;269;221	ENSP00000256413:R269H;ENSP00000372459:R269H	ENSP00000256413:R269H	R	+	2	0	CTIF	44538509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.058000	0.64300	2.416000	0.81992	0.561000	0.74099	CGC		0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		23	24	0	0	0	1	0	23	24					A	46284511	G	A	46284511	3	1	213	1	0	0	0	0	1	0	0	0	8176	1087	38	1	832	1	KIAA0427	18	46284511	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	12128047	46284511	31792737	67	27114											
SEC11C	90701	broad.mit.edu	37	chr18	56816768	56816768	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattaccaggttttaaacttCgccatgatcgtgtcttctgc	7	10	2	1	rs573800787		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:56816768C>T	ENST00000587834.1	+	2	583	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEC11C_ENST00000588875.1_Silent_p.F37F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TTTTAAACTTCGCCATGATCG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.001					ENST00000587834.1																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9						c.(109-111)ttC>ttT		SEC11 homolog C (S. cerevisiae)							195	179	184					18																	56816768		2203	4300	6503	SO:0001819	synonymous_variant	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56816768C>T	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"SEC11-like 3 (S. cerevisiae)"	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.111C>T	18.37:g.56816768C>T						SEC11C_ENST00000588875.1_Silent_p.F37F	p.F37F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN			2	583	+		Colorectal(73;0.175)	37					B2RAA3	Silent	SNP	ENST00000587834.1	37	c.111C>T	CCDS11970.1																																																																																				0.493	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280		32	59	0	0	0	1	0	32	59					T	56816768	C	T	56816768	2	4	213	1	0	0	0	0	0	0	0	1	13979	883	31	1		1	SEC11C	18	56816768	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	10532257	56816768	21260480	68	27115											
SERPINB7	8710	broad.mit.edu	37	chr18	61449715	61449715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctctctgagcctcttcGctgccctggccctggtccgc	9	18	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:61449715G>A	ENST00000398019.2	+	2	434	c.109G>A	c.(109-111)Gct>Act	p.A37T	SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	37					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAGCCTCTTCGCTGCCCTGGC	0.483																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(109-111)Gct>Act		serpin peptidase inhibitor, clade B (ovalbumin), member 7							118	97	104					18																	61449715		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449715G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.109G>A	18.37:g.61449715G>A	ENSP00000381101:p.Ala37Thr					SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T	p.A37T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			2	434	+		Esophageal squamous(42;0.129)	37					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.109G>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	1.446	-0.566303	0.03910	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;T;T;T;D;T;D	0.87412	-2.25;2.8;2.8;2.8;-1.6;2.8;-2.25	5.88	1.8	0.24995	Serpin domain (3);	0.362305	0.23904	N	0.043403	T	0.56543	0.1992	N	0.00890	-1.11	0.21897	N	0.999483	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.50709	-0.8796	10	0.15952	T	0.53	.	1.6659	0.02802	0.5694:0.1402:0.1551:0.1352	.	37;37	F5GZC0;O75635	.;SPB7_HUMAN	T	37	ENSP00000397301:A37T;ENSP00000337212:A37T;ENSP00000381101:A37T;ENSP00000444572:A37T;ENSP00000402362:A37T;ENSP00000444861:A37T;ENSP00000393947:A37T	ENSP00000337212:A37T	A	+	1	0	SERPINB7	59600695	0.484000	0.25964	0.960000	0.40013	0.591000	0.36615	0.479000	0.22228	0.483000	0.27608	-0.658000	0.03865	GCT		0.483	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		16	31	0	0	0	1	0	16	31					A	61449715	G	A	61449715	3	1	213	1	0	0	0	0	1	0	0	0	14106	1087	38	1	111	1	SERPINB7	18	61449715	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4632947	61449715	16627533	69	27116											
ZNF236	7776	broad.mit.edu	37	chr18	74667996	74667996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccagagaaggagggccGggcgcaccagtgcctggagt	17	12	0	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:74667996G>A	ENST00000253159.8	+	28	5162	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1655					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)		AAGGAGGGCCGGGCGCACCAG	0.637																																						ENST00000253159.8																			0				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						c.(4963-4965)cGg>cAg		zinc finger protein 236							15	18	17					18																	74667996		1966	4125	6091	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74667996G>A	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.4964G>A	18.37:g.74667996G>A	ENSP00000253159:p.Arg1655Gln					ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q	p.R1655Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	28	5162	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1655					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4964G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135633	0.21123	.	.	ENSG00000130856	ENST00000253159	T	0.33438	1.41	5.47	3.65	0.41850	.	0.153988	0.42821	D	0.000648	T	0.20129	0.0484	N	0.20986	0.625	0.09310	N	0.999999	B	0.17268	0.021	B	0.11329	0.006	T	0.15549	-1.0433	10	0.41790	T	0.15	.	10.1345	0.42697	0.0:0.3616:0.5063:0.1321	.	1655	Q9UL36	ZN236_HUMAN	Q	1655	ENSP00000253159:R1655Q	ENSP00000253159:R1655Q	R	+	2	0	ZNF236	72796984	0.340000	0.24792	0.088000	0.20740	0.301000	0.27625	1.343000	0.33930	0.635000	0.30488	0.655000	0.94253	CGG		0.637	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			6	10	0	0	0	1	0	6	10					A	74667996	G	A	74667996	3	1	213	1	0	0	0	0	1	0	0	0	17786	1116	39	1	5074	1	ZNF236	18	74667996	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	13218281	74667996	3409252	70	27117											
C19orf21	126353	broad.mit.edu	37	chr19	757391	757391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctgggccgtcatccagGgccaggcagtcaggaagagc	16	12	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:757391G>A	ENST00000215582.6	+	2	548	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	149					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGTCATCCAGGGCCAGGCAGT	0.697																																						ENST00000215582.6																			0											c.(445-447)Ggc>Agc		mitotic spindle positioning							33	33	33					19																	757391		2193	4297	6490	SO:0001583	missense	126353							g.chr19:757391G>A	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.445G>A	19.37:g.757391G>A	ENSP00000215582:p.Gly149Ser						p.G149S	NM_173481.2	NP_775752.1					2	548	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.445G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684258	0.29872	.	.	ENSG00000099812	ENST00000215582	T	0.61040	0.14	4.5	1.14	0.20703	.	1.904360	0.02373	N	0.078052	T	0.36026	0.0952	N	0.12746	0.255	0.23356	N	0.997841	B	0.20052	0.041	B	0.23574	0.047	T	0.22836	-1.0205	10	0.08381	T	0.77	-9.134	3.8166	0.08818	0.4078:0.1825:0.4097:0.0	.	149	Q8IVT2	CS021_HUMAN	S	149	ENSP00000215582:G149S	ENSP00000215582:G149S	G	+	1	0	C19orf21	708391	0.038000	0.19896	0.863000	0.33907	0.629000	0.37895	0.931000	0.28871	0.331000	0.23511	0.313000	0.20887	GGC		0.697	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		3	9	0	0	0	1	0	3	9					A	757391	G	A	757391	3	1	213	1	0	0	0	0	1	0	0	0	1913	1232	43	2	447	2	C19orf21	19	757391	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		757391	58371592	71	27118											
ABCA7	10347	broad.mit.edu	37	chr19	1053821	1053821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggagtgtgctgcggAcacagatatggagggtgcgg	21	5	0	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1053821A>C	ENST00000263094.6	+	25	3689	c.3458A>C	c.(3457-3459)gAc>gCc	p.D1153A	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1153					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)		TGTGCTGCGGACACAGATATG	0.637																																						ENST00000263094.6																			0				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						c.(3457-3459)gAc>gCc		ATP-binding cassette, sub-family A (ABC1), member 7							92	92	92					19																	1053821		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1053821A>C	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.3458A>C	19.37:g.1053821A>C	ENSP00000263094:p.Asp1153Ala					ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A|ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A	p.D1153A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		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)	25	3689	+		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)	1153					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.3458A>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	8.090	0.774353	0.16051	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.85861	-2.04;-2.04	4.01	4.01	0.46588	.	.	.	.	.	T	0.73385	0.3580	N	0.13098	0.295	0.09310	N	1	B;B	0.26445	0.149;0.001	B;B	0.33339	0.162;0.003	T	0.61695	-0.7010	9	0.28530	T	0.3	.	7.058	0.25109	0.7984:0.0:0.0:0.2016	.	1015;1153	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	A	1153	ENSP00000263094:D1153A;ENSP00000414062:D1153A	ENSP00000263094:D1153A	D	+	2	0	ABCA7	1004821	0.961000	0.32948	0.013000	0.15412	0.033000	0.12548	3.046000	0.49846	1.588000	0.49971	0.260000	0.18958	GAC		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		18	79	0	0	0	1	0	18	79					C	1053821	A	C	1053821	3	2	213	1	0	0	0	0	1	0	0	0	37	275	10	5	3552	5	ABCA7	19	1053821	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08	296430	1053821	58075162	72	27119											
ATP8B3	148229	broad.mit.edu	37	chr19	1785489	1785489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatggtgatggacagcagGcaagacagggccaccacgac	13	12	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1785489G>A	ENST00000310127.6	-	26	3610	c.3372C>T	c.(3370-3372)tgC>tgT	p.C1124C	ATP8B3_ENST00000525591.1_Silent_p.C1087C|ATP8B3_ENST00000539485.1_Silent_p.C1134C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1124					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|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)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TGGACAGCAGGCAAGACAGGG	0.647																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3400-3402)tgC>tgT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							37	43	41					19																	1785489		2070	4182	6252	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785489G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3372C>T	19.37:g.1785489G>A						ATP8B3_ENST00000310127.6_Silent_p.C1124C|ATP8B3_ENST00000525591.1_Silent_p.C1087C	p.C1134C			O60423	AT8B3_HUMAN		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)	26	3635	-		Hepatocellular(1079;0.137)	1124					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.3402C>T	CCDS45901.1																																																																																				0.647	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		6	30	0	0	0	1	0	6	30					A	1785489	G	A	1785489	2	1	213	1	0	0	0	0	0	0	0	1	1196	1195	42	2		2	ATP8B3	19	1785489	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	731668	1785489	57343494	73	27120											
KANK3	256949	broad.mit.edu	37	chr19	8389602	8389602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcactggcacacatcagcGctgtggccccatccgcatcc	8	18	2	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:8389602G>A	ENST00000593649.1	-	9	2260	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	KANK3_ENST00000330915.3_Missense_Mutation_p.A732V			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	732										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACACATCAGCGCTGTGGCCCC	0.637																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2194-2196)gCg>gTg		KN motif and ankyrin repeat domains 3							60	49	52					19																	8389602		2203	4300	6503	SO:0001583	missense	256949							g.chr19:8389602G>A	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.2195C>T	19.37:g.8389602G>A	ENSP00000470728:p.Ala732Val					KANK3_ENST00000593649.1_Missense_Mutation_p.A732V	p.A732V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			9	2260	-			732					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.2195C>T		.	.	.	.	.	.	.	.	.	.	G	19.87	3.906534	0.72868	.	.	ENSG00000186994	ENST00000330915	T	0.70399	-0.48	4.78	4.78	0.61160	.	.	.	.	.	T	0.81187	0.4770	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82800	-0.0278	9	0.66056	D	0.02	-12.7014	16.5355	0.84372	0.0:0.0:1.0:0.0	.	732	Q6NY19-2	.	V	732	ENSP00000328923:A732V	ENSP00000328923:A732V	A	-	2	0	KANK3	8295602	1.000000	0.71417	0.242000	0.24170	0.180000	0.23129	9.484000	0.97940	2.474000	0.83562	0.561000	0.74099	GCG		0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		20	54	0	0	0	1	0	20	54					A	8389602	G	A	8389602	3	1	213	1	0	0	0	0	1	0	0	0	7978	1087	38	1	282	1	KANK3	19	8389602	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6604113	8389602	50739381	74	27121											
OR7C2	26658	broad.mit.edu	37	chr19	15052351	15052351	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactttctcctcctgggattCgcagaggactctgacatgca	9	12	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:15052351C>T	ENST00000248072.3	+	1	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	17						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)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCTGGGATTCGCAGAGGACT	0.498																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(49-51)ttC>ttT		olfactory receptor, family 7, subfamily C, member 2							92	89	90					19																	15052351		2203	4300	6503	SO:0001819	synonymous_variant	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052351C>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.51C>T	19.37:g.15052351C>T							p.F17F	NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN			1	51	+	Ovarian(108;0.203)		17					O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	c.51C>T	CCDS12320.1																																																																																				0.498	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			26	82	0	0	0	1	0	26	82					T	15052351	C	T	15052351	2	4	213	1	0	0	0	0	0	0	0	1	11218	883	31	1		1	OR7C2	19	15052351	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6662749	15052351	44076632	75	27122											
ZNF492	57615	broad.mit.edu	37	chr19	22847685	22847685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcaaagcttttaacctatCgtcacaacttactacacata	4	11	1	0	rs201770409		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:22847685C>T	ENST00000456783.2	+	4	1458	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	405					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)				TTTAACCTATCGTCACAACTT	0.383																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1213-1215)tCg>tTg		zinc finger protein 492		C	LEU/SER	1,4323		0,1,2161	65	69	67		1214	-2.2	0	19		67	3,8547		0,3,4272	no	missense	ZNF492	NM_020855.2	145	0,4,6433	TT,TC,CC		0.0351,0.0231,0.0311	benign	405/532	22847685	4,12870	2162	4275	6437	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847685C>T	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.1214C>T	19.37:g.22847685C>T	ENSP00000413660:p.Ser405Leu						p.S405L	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1458	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	405					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1214C>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	3.343	-0.134107	0.06711	2.31E-4	3.51E-4	ENSG00000229676	ENST00000456783	T	0.01197	5.19	1.12	-2.25	0.06888	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	N	0.20328	0.56	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.47328	-0.9126	9	0.42905	T	0.14	.	2.7311	0.05227	0.4695:0.2866:0.2439:0.0	.	405	Q9P255	ZN492_HUMAN	L	405	ENSP00000413660:S405L	ENSP00000413660:S405L	S	+	2	0	ZNF492	22639525	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.878000	0.00344	0.269000	0.21961	0.274000	0.19336	TCG		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		8	49	0	0	0	1	0	8	49					T	22847685	C	T	22847685	3	4	213	1	0	0	0	0	1	0	0	0	17940	893	31	1	1224	1	ZNF492	19	22847685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7795334	22847685	36281298	76	27123											
ATP4A	495	broad.mit.edu	37	chr19	36046393	36046393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgctgggggctggtgcgCgcaaacaccatctcggggtg	16	11	2	0	rs143513836	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:36046393C>T	ENST00000262623.3	-	14	2134	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	702					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCTGGTGCGCGCAAACACCA	0.667													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18701	0.0		0.001	False		,,,				2504	0.0					ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2104-2106)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	C		0,4406		0,0,2203	32	34	33		2106	-8.4	0.6	19	dbSNP_134	33	4,8590	3.7+/-12.6	0,4,4293	no	coding-synonymous	ATP4A	NM_000704.2		0,4,6496	TT,TC,CC		0.0465,0.0,0.0308		702/1036	36046393	4,12996	2203	4297	6500	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046393C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2106G>A	19.37:g.36046393C>T							p.A702A	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2134	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		702					O00738	Silent	SNP	ENST00000262623.3	37	c.2106G>A	CCDS12467.1																																																																																				0.667	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		10	32	0	0	0	1	0	10	32					T	36046393	C	T	36046393	2	4	213	1	0	0	0	0	0	0	0	1	1145	755	27	1		1	ATP4A	19	36046393	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	13198708	36046393	23082590	77	27124											
ZNF540	163255	broad.mit.edu	37	chr19	38103617	38103617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagacctttcgagttcGttctcaaattagtctacata	8	8	2	1	rs374512088		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:38103617G>A	ENST00000592533.1	+	5	1768	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H|ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	479					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCGAGTTCGTTCTCAAATT	0.398																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1435-1437)cGt>cAt		zinc finger protein 540		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	99	95	97		1436,1340,1436	1.2	0	19		97	0,8600		0,0,4300	no	missense,missense,missense	ZNF540	NM_001172225.1,NM_001172226.1,NM_152606.3	29,29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign	479/661,447/629,479/661	38103617	3,13003	2203	4300	6503	SO:0001583	missense	163255							g.chr19:38103617G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1436G>A	19.37:g.38103617G>A	ENSP00000466274:p.Arg479His					ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H|ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H	p.R479H	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1768	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1436G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	2.060	-0.415537	0.04766	6.81E-4	0.0	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.07800	3.16	2.32	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	L	0.28115	0.83	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.13407	0.009;0.004	T	0.46359	-0.9197	9	0.12766	T	0.61	.	4.8455	0.13512	0.4495:0.0:0.5505:0.0	.	447;479	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	H	479;447	ENSP00000324598:R479H	ENSP00000324598:R479H	R	+	2	0	ZNF540	42795457	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-1.319000	0.02702	0.279000	0.22186	0.305000	0.20034	CGT		0.398	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		17	44	0	0	0	1	0	17	44					A	38103617	G	A	38103617	3	1	213	1	0	0	0	0	1	0	0	0	17972	1145	40	1	1450	1	ZNF540	19	38103617	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	2057224	38103617	21025366	78	27125											
PRX	57716	broad.mit.edu	37	chr19	40900042	40900043	+	Frame_Shift_Del	DEL	TT	TT	-													ggaagcggaacttgggtgacTtctctctgacgggggacttg							TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:40900042_40900043delTT	ENST00000324001.7	-	7	4486_4487	c.4216_4217delAA	c.(4216-4218)aagfs	p.K1406fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1406					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGTGACTTCTCTCTGACG	0.688																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4216-4218)gfs		periaxin																																				SO:0001589	frameshift_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900042_40900043delTT	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4216_4217delAA	19.37:g.40900042_40900043delTT	ENSP00000326018:p.Lys1406fs					PRX_ENST00000291825.7_3'UTR	p.K1406fs	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4486_4487	-			1406					Q9BXL9|Q9HCF2	Frame_Shift_Del	DEL	ENST00000324001.7	37	c.4216_4217delAA	CCDS33028.1																																																																																				0.688	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		39	130						39	130	---	---	---	---	-	40900043	TT	-	40900042	7	5	213	1	0	1	0	1	0	0	0	0	12642	1609	56	0	172	0	PRX	19	40900042	Frame_Shift_Del	DEL	TT	TCGA-FG-A4MW-01A-11D-A26M-08	2796425	40900042	18228941	79	27126											
SNRPA	6626	broad.mit.edu	37	chr19	41268829	41268829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgccgatgactcaggcGccccgcattatgcaccacat	9	16	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:41268829G>A	ENST00000243563.3	+	4	1000	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	150	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGACTCAGGCGCCCCGCATTA	0.657																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(448-450)gcG>gcA		small nuclear ribonucleoprotein polypeptide A							28	25	26					19																	41268829		2203	4300	6503	SO:0001819	synonymous_variant	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268829G>A	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"RNA binding motif (RRM) containing"	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.450G>A	19.37:g.41268829G>A							p.A150A	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1000	+			150			Pro-rich.			Silent	SNP	ENST00000243563.3	37	c.450G>A	CCDS12565.1																																																																																				0.657	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		11	24	0	0	0	1	0	11	24					A	41268829	G	A	41268829	2	1	213	1	0	0	0	0	0	0	0	1	14859	1074	38	1		1	SNRPA	19	41268829	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	368787	41268829	17860154	80	27127											
ZNF226	7769	broad.mit.edu	37	chr19	44681060	44681060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcgtatcttcaaatcCatcagaaggcccacagtata	6	10	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:44681060C>T	ENST00000590089.1	+	7	2012	c.1645C>T	c.(1645-1647)Cat>Tat	p.H549Y	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	549					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)						Prostate(69;0.0352)|all_neural(266;0.202)				TCTTCAAATCCATCAGAAGGC	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(1645-1647)Cat>Tat		zinc finger protein 226							115	120	118					19																	44681060		2143	4286	6429	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681060C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1645C>T	19.37:g.44681060C>T	ENSP00000465121:p.His549Tyr					ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y|ZNF226_ENST00000588883.1_3'UTR	p.H549Y			Q9NYT6	ZN226_HUMAN			7	2012	+		Prostate(69;0.0352)|all_neural(266;0.202)	549					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1645C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528553	0.64860	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	D;D	0.86769	-2.17;-2.17	4.06	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33419	N	0.004940	D	0.94974	0.8374	H	0.96301	3.8	0.32361	N	0.557196	D	0.71674	0.998	D	0.76575	0.988	D	0.95549	0.8619	10	0.87932	D	0	.	12.2615	0.54652	0.1718:0.8282:0.0:0.0	.	549	Q9NYT6	ZN226_HUMAN	Y	549	ENSP00000336719:H549Y;ENSP00000393265:H549Y	ENSP00000336719:H549Y	H	+	1	0	ZNF226	49372900	1.000000	0.71417	0.785000	0.31869	0.998000	0.95712	5.328000	0.65887	1.053000	0.40415	0.650000	0.86243	CAT		0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			30	99	0	0	0	1	0	30	99					T	44681060	C	T	44681060	3	4	213	1	0	0	0	0	1	0	0	0	17777	594	21	2	1713	2	ZNF226	19	44681060	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	3412231	44681060	14447923	81	27128											
ISM1	140862	broad.mit.edu	37	chr20	13280078	13280078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggacgaggactacatcaAgcagttccaagaggccaggg	13	11	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:13280078A>G	ENST00000262487.4	+	6	1373	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	456						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACTACATCAAGCAGTTCCAA	0.567																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1366-1368)aAg>aGg		isthmin 1, angiogenesis inhibitor							70	79	76					20																	13280078		2144	4239	6383	SO:0001583	missense	140862					extracellular region		g.chr20:13280078A>G	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1367A>G	20.37:g.13280078A>G	ENSP00000262487:p.Lys456Arg					TASP1_ENST00000539805.1_Intron	p.K456R	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	1373	+			456					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.1367A>G	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047547	0.19827	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.45668	0.89;0.9	5.98	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.05084	-1.0907	10	0.18710	T	0.47	-15.5165	8.8963	0.35467	0.8073:0.1271:0.0656:0.0	.	456	B1AKI9	ISM1_HUMAN	R	456;410	ENSP00000262487:K456R;ENSP00000409938:K410R	ENSP00000262487:K456R	K	+	2	0	ISM1	13228078	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	4.319000	0.59197	0.467000	0.27218	-0.274000	0.10170	AAG		0.567	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			30	52	0	0	0	1	0	30	52					G	13280078	A	G	13280078	3	3	213	1	0	0	0	0	1	0	0	0	7860	72	3	3	1389	3	ISM1	20	13280078	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		13280078	49745442	82	27129											
RIN2	54453	broad.mit.edu	37	chr20	19945627	19945627	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggctcaggaatcagtttCgcagatttattccggctcat	10	9	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:19945627C>T	ENST00000255006.6	+	6	791	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	165					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)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAATCAGTTTCGCAGATTTAT	0.478																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(640-642)ttC>ttT		Ras and Rab interactor 2							169	156	160					20																	19945627		1864	4112	5976	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19945627C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.642C>T	20.37:g.19945627C>T						RIN2_ENST00000484638.1_Intron|RIN2_ENST00000440354.2_Intron	p.F214F	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			6	791	+			165					Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.642C>T	CCDS56182.1																																																																																				0.478	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			23	59	0	0	0	1	0	23	59					T	19945627	C	T	19945627	2	4	213	1	0	0	0	0	0	0	0	1	13372	883	31	1		1	RIN2	20	19945627	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6665549	19945627	43079893	83	27130											
CABIN1	23523	broad.mit.edu	37	chr22	24451502	24451502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttaacgtgatccagccaAgcactgtcagcaccaaccca	7	15	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:24451502A>G	ENST00000398319.2	+	9	1358	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G|CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	325					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCCAAGCACTGTCAG	0.577																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(973-975)Agc>Ggc		calcineurin binding protein 1							115	99	104					22																	24451502		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24451502A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.973A>G	22.37:g.24451502A>G	ENSP00000381364:p.Ser325Gly					CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G|CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G	p.S325G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			9	1358	+			325					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.973A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505723	0.26949	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.68903	0.32;-0.06;-0.36;0.25;-0.06	4.95	1.59	0.23543	.	0.414754	0.30338	N	0.009851	T	0.47820	0.1466	L	0.36672	1.1	0.31678	N	0.643538	B;B;B;B	0.27140	0.169;0.167;0.066;0.039	B;B;B;B	0.31101	0.115;0.124;0.053;0.024	T	0.35968	-0.9767	10	0.23302	T	0.38	.	1.7063	0.02882	0.5702:0.1415:0.1523:0.1361	.	280;325;275;325	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	G	280;325;275;280;325;325	ENSP00000394209:S280G;ENSP00000263119:S325G;ENSP00000384694:S275G;ENSP00000412389:S280G;ENSP00000381364:S325G	ENSP00000263119:S325G	S	+	1	0	CABIN1	22781502	0.000000	0.05858	0.095000	0.20976	0.540000	0.34992	0.612000	0.24283	0.105000	0.17753	0.524000	0.50904	AGC		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		25	67	0	0	0	1	0	25	67					G	24451502	A	G	24451502	3	3	213	1	0	0	0	0	1	0	0	0	2528	72	3	3	1003	3	CABIN1	22	24451502	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		24451502	26853064	84	27131											
MYO18B	84700	broad.mit.edu	37	chr22	26164406	26164406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagactcatccccatgacGcccccccttgcaagacctct	6	18	2	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:26164406G>A	ENST00000407587.2	+	4	692	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A175T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	175						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCATGACGCCCCCCCTTG	0.597																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(523-525)Gcc>Acc		myosin XVIIIB							21	25	24					22																	26164406		1969	4146	6115	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164406G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.523G>A	22.37:g.26164406G>A	ENSP00000386096:p.Ala175Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A175T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T	p.A175T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	773	+			175					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	A	0.702	-0.790603	0.02884	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	4.14	-4.23	0.03789	.	1.477850	0.04895	N	0.450264	T	0.69024	0.3065	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.57075	-0.7873	10	0.14656	T	0.56	.	5.1804	0.15158	0.2061:0.0:0.466:0.3279	.	175;175;175	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	T	175	ENSP00000441229:A175T;ENSP00000334563:A175T;ENSP00000386096:A175T	ENSP00000334563:A175T	A	+	1	0	MYO18B	24494406	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.775000	0.04679	-0.807000	0.04393	-0.893000	0.02921	GCC		0.597	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	10	0	0	0	1	0	3	10					A	26164406	G	A	26164406	3	1	213	1	0	0	0	0	1	0	0	0	10066	1087	38	1	533	1	MYO18B	22	26164406	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1712904	26164406	25140160	85	27132											
KIAA1210	57481	broad.mit.edu	37	chrX	118284501	118284501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaggaaggagagaagcGtgaaaggcagagaagcctcg	17	8	0	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:118284501G>A	ENST00000402510.2	-	1	41	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	14										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						GGAGAGAAGCGTGAAAGGCAG	0.642																																						ENST00000402510.2																			0				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						c.(40-42)caC>caT		KIAA1210							54	62	59					X																	118284501		1994	4141	6135	SO:0001819	synonymous_variant	57481							g.chrX:118284501G>A	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.42C>T	X.37:g.118284501G>A							p.H14H	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			1	41	-			14					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.42C>T	CCDS48156.1																																																																																				0.642	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		47	17	0	0	0	1	0	47	17					A	118284501	G	A	118284501	2	1	213	1	0	0	0	0	0	0	0	1	8214	1136	40	1		1	KIAA1210	23	118284501	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		118284501	36986059	86	27133											
CUL4B	8450	broad.mit.edu	37	chrX	119678463	119678465	+	In_Frame_Del	DEL	ATA	ATA	-													tctgcactttctgatcacttAtaatatgagccctaaataac					rs144312827		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:119678463_119678465delATA	ENST00000404115.3	-	8	1409_1411	c.1008_1010delTAT	c.(1006-1011)attata>ata	p.336_337II>I	CUL4B_ENST00000336592.6_In_Frame_Del_p.323_324II>I|CUL4B_ENST00000371322.5_In_Frame_Del_p.318_319II>I|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	336					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCACTTATAATATGAGCCC	0.35																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(952-957)ata>at		cullin 4B																																				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119678463_119678465delATA	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1008_1010delTAT	X.37:g.119678466_119678468delATA	ENSP00000384109:p.Ile337del					CUL4B_ENST00000336592.6_In_Frame_Del_p.II323del|CUL4B_ENST00000404115.3_In_Frame_Del_p.II336del	p.II318del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			6	1015_1017	-			336					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.954_956delTAT	CCDS35379.1																																																																																				0.35	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		5	8						5	8	---	---	---	---	-	119678465	ATA	-	119678463	7	5	213	1	0	1	0	1	0	0	0	0	4058	449	16	0	1791	0	CUL4B	23	119678463	In_Frame_Del	DEL	ATA	TCGA-FG-A4MW-01A-11D-A26M-08	1393962	119678463	35592097	87	27134											
MAGEA11	4110	broad.mit.edu	37	chrX	148798319	148798319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggggtccaagggcccaCgctgagaccagcaagatgaa	14	11	0	3	rs376112940		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:148798319C>T	ENST00000355220.5	+	5	1275	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	MAGEA11_ENST00000333104.4_Silent_p.H362H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	391	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGGGCCCACGCTGAGACCA	0.527																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1171-1173)caC>caT		melanoma antigen family A, 11		C	,	1,3834		0,1,1631,571	153	131	138		1086,1173	-0.3	0.1	X		138	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	MAGEA11	NM_001011544.1,NM_005366.4	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	362/401,391/430	148798319	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148798319C>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1173C>T	X.37:g.148798319C>T						MAGEA11_ENST00000333104.4_Silent_p.H362H	p.H391H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	1275	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		391			MAGE.		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.1173C>T	CCDS48180.1																																																																																				0.527	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		69	25	0	0	0	1	0	69	25					T	148798319	C	T	148798319	2	4	213	1	0	0	0	0	0	0	0	1	9165	535	19	1		1	MAGEA11	23	148798319	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	29119856	148798319	6472241	88	27135											
TBL1Y	90665	broad.mit.edu	37	chrY	6911098	6911098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgggacactagtgccaCcgtctgccctcatctccatt	7	15	4	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrY:6911098C>T	ENST00000383032.1	+	7	783	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	46	F-box-like.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTAGTGCCACCGTCTGCCCT	0.532																																						ENST00000383032.1																			0				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(136-138)Ccg>Tcg		transducin (beta)-like 1, Y-linked							76	77	77					Y																	6911098		623	1980	2603	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6911098C>T	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"WD repeat domain containing"	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.136C>T	Y.37:g.6911098C>T	ENSP00000372499:p.Pro46Ser					TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S	p.P46S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN			7	783	+			46			F-box-like.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.136C>T	CCDS14779.1																																																																																				0.532	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		14	9	0	0	0	1	0	14	9					T	6911098	C	T	6911098	3	4	213	1	0	0	0	0	1	0	0	0	15638	507	18	2	142	2	TBL1Y	24	6911098	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6911098	52462468	89	27136											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699300	17699300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaccttcctgaagccCtcaaatcagaatcaggactt	6	14	4	3	rs374447700		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:17699300C>A	ENST00000399080.2	-	1	406	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	128										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)					TCCTGAAGCCCTCAAATCAGA	0.488																																						ENST00000399080.2																			0				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						c.(382-384)aGg>aTg		RAD51 associated protein 2							75	74	75					2																	17699300		1896	4127	6023	SO:0001583	missense	729475							g.chr2:17699300C>A	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.383G>T	2.37:g.17699300C>A	ENSP00000382030:p.Arg128Met						p.R128M	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	406	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		128						Missense_Mutation	SNP	ENST00000399080.2	37	c.383G>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688247	0.48097	.	.	ENSG00000214842	ENST00000399080	T	0.34667	1.35	3.6	2.64	0.31445	.	.	.	.	.	T	0.39172	0.1068	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.11397	-1.0589	9	0.72032	D	0.01	-0.0403	6.6954	0.23195	0.0:0.8586:0.0:0.1414	.	128	Q09MP3	R51A2_HUMAN	M	128	ENSP00000382030:R128M	ENSP00000382030:R128M	R	-	2	0	RAD51AP2	17562781	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	0.339000	0.19875	0.983000	0.38602	0.655000	0.94253	AGG		0.488	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		13	45	1	0	6.72482e-11	1	7.14513e-11	13	45					A	17699300	C	A	17699300	3	1	214	1	0	0	0	0	1	0	0	0	12987	681	24	4	3108	4	RAD51AP2	2	17699300	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17699300	225500073	1	27137											
FAM179A	165186	broad.mit.edu	37	chr2	29222093	29222093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgaacaacgaggaaccGtcacagctcctgcgtggact	11	13	1	1	rs575618435	byFrequency	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:29222093G>A	ENST00000379558.4	+	4	537	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM179A_ENST00000403861.2_Silent_p.P62P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	62										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						ACGAGGAACCGTCACAGCTCC	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.002					ENST00000379558.4																			0				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						c.(184-186)ccG>ccA		family with sequence similarity 179, member A							40	44	43					2																	29222093		2125	4233	6358	SO:0001819	synonymous_variant	165186						binding	g.chr2:29222093G>A	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.186G>A	2.37:g.29222093G>A						FAM179A_ENST00000403861.2_Silent_p.P62P	p.P62P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			4	537	+			62					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.186G>A	CCDS1769.2																																																																																				0.627	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		16	14	0	0	0	1	0	16	14					A	29222093	G	A	29222093	2	1	214	1	0	0	0	0	0	0	0	1	5505	1132	40	1		1	FAM179A	2	29222093	Silent	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	11522793	29222093	213977280	2	27138											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	27	0	0	0	1	0	23	27					T	209113112	C	T	209113112	3	4	214	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08	179891019	209113112	34086261	3	27139											
SLC6A20	54716	broad.mit.edu	37	chr3	45811778	45811778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcttgggtaggcagatgCgaggtagcccttcacctgct	13	10	1	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:45811778C>T	ENST00000358525.4	-	7	1136	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A341T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A304T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	341					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGGCAGATGCGAGGTAGCCC	0.522																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1021-1023)Gca>Aca		solute carrier family 6 (proline IMINO transporter), member 20							133	110	118					3																	45811778		2203	4300	6503	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45811778C>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1021G>A	3.37:g.45811778C>T	ENSP00000346298:p.Ala341Thr					SLC6A20_ENST00000456124.2_Missense_Mutation_p.A341T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A304T	p.A341T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	7	1136	-			341					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.1021G>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826242	0.16749	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.76060	-0.99;-0.9;-0.91	4.0	4.0	0.46444	.	0.270197	0.36034	N	0.002839	T	0.47600	0.1454	N	0.10916	0.065	0.09310	N	1	D;P	0.54047	0.964;0.915	B;B	0.38264	0.176;0.269	T	0.40478	-0.9561	10	0.20519	T	0.43	.	7.6294	0.28230	0.0:0.7992:0.0:0.2008	.	304;341	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	304;341;341	ENSP00000296133:A304T;ENSP00000346298:A341T;ENSP00000404310:A341T	ENSP00000296133:A304T	A	-	1	0	SLC6A20	45786782	0.356000	0.24930	0.052000	0.19188	0.118000	0.20060	2.502000	0.45398	2.210000	0.71456	0.563000	0.77884	GCA		0.522	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		4	62	0	0	0	1	0	4	62					T	45811778	C	T	45811778	3	4	214	1	0	0	0	0	1	0	0	0	14684	768	27	1	777	1	SLC6A20	3	45811778	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		45811778	152210652	4	27140											
RNASEN	29102	broad.mit.edu	37	chr5	31526303	31526303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgctcccgccgatccaggGaccgatgcctctcacctcgc	9	20	1	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr5:31526303G>A	ENST00000511367.2	-	4	981	c.737C>T	c.(736-738)tCc>tTc	p.S246F	DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000344624.3_Missense_Mutation_p.S246F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S246F|DROSHA_ENST00000513349.1_Missense_Mutation_p.S246F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	246	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						CCGATCCAGGGACCGATGCCT	0.592																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(736-738)tCc>tTc		drosha, ribonuclease type III							114	117	116					5																	31526303		2005	4157	6162	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526303G>A	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.737C>T	5.37:g.31526303G>A	ENSP00000425979:p.Ser246Phe					DROSHA_ENST00000513349.1_Missense_Mutation_p.S246F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S246F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S246F	p.S246F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			4	981	-			246			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.737C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831597	0.50845	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	T;T;T;T;T	0.52526	1.28;1.28;0.74;0.74;0.66	5.01	5.01	0.66863	.	0.240977	0.36665	N	0.002478	T	0.45054	0.1323	N	0.14661	0.345	0.34181	D	0.670932	D;P;P	0.57899	0.981;0.94;0.94	P;B;B	0.57101	0.813;0.272;0.272	T	0.45673	-0.9245	10	0.10902	T	0.67	-14.7433	18.3484	0.90329	0.0:0.0:1.0:0.0	.	246;246;246	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	F	246;246;246;246;239;239;44	ENSP00000425979:S246F;ENSP00000339845:S246F;ENSP00000409335:S246F;ENSP00000424161:S246F;ENSP00000428782:S44F	ENSP00000265075:S239F	S	-	2	0	DROSHA	31562060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.937000	0.63513	2.327000	0.79052	0.655000	0.94253	TCC		0.592	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		26	31	0	0	0	1	0	26	31					A	31526303	G	A	31526303	3	1	214	1	0	0	0	0	1	0	0	0	13417	1174	41	2	3515	2	RNASEN	5	31526303	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		31526303	149388957	5	27141											
REV3L	5980	broad.mit.edu	37	chr6	111694047	111694050	+	Frame_Shift_Del	DEL	TAAA	TAAA	-													tttcttgaaacatacagttcTaaatcttcacaggccacgtc					rs373958967		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr6:111694047_111694050delTAAA	ENST00000358835.3	-	14	5962_5965	c.5508_5511delTTTA	c.(5506-5511)gatttafs	p.DL1836fs	REV3L_ENST00000368805.1_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000435970.1_Frame_Shift_Del_p.DL1758fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1836					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATACAGTTCTAAATCTTCACAGG	0.417								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5272-5277)gafs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694047_111694050delTAAA	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5508_5511delTTTA	6.37:g.111694047_111694050delTAAA	ENSP00000351697:p.Asp1836fs					REV3L_ENST00000368805.1_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.DL1836fs	p.DL1758fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6090_6093	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1836					O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	c.5274_5277delTTTA	CCDS5091.2																																																																																				0.417	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		40	88						40	88	---	---	---	---	-	111694050	TAAA	-	111694047	7	5	214	1	0	1	0	1	0	0	0	0	13240	1519	53	0	3961	0	REV3L	6	111694047	Frame_Shift_Del	DEL	TAAA	TCGA-FG-A4MX-01A-11D-A26M-08		111694047	59421020	6	27142											
CFTR	1080	broad.mit.edu	37	chr7	117232112	117232112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctatttttatgggacatttTcagaactccaaaatctacag	6	8	2	1	rs121908777		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:117232112T>C	ENST00000003084.6	+	14	2023	c.1891T>C	c.(1891-1893)Tca>Cca	p.S631P	CFTR_ENST00000454343.1_Missense_Mutation_p.S570P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	631	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGGGACATTTTCAGAACTCCA	0.338									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1891-1893)Tca>Cca		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						65	70	68					7																	117232112		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232112T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1891T>C	7.37:g.117232112T>C	ENSP00000003084:p.Ser631Pro					CFTR_ENST00000454343.1_Missense_Mutation_p.S570P	p.S631P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2023	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		631			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1891T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652776	0.47362	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90732	-2.72;-2.72;-2.72	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.099514	0.64402	D	0.000001	D	0.86289	0.5897	L	0.28504	0.86	0.53005	D	0.999968	B	0.20052	0.041	B	0.21708	0.036	T	0.82635	-0.0360	10	0.51188	T	0.08	-17.5619	16.1358	0.81487	0.0:0.0:0.0:1.0	.	631	P13569	CFTR_HUMAN	P	631;570;601	ENSP00000003084:S631P;ENSP00000403677:S570P;ENSP00000389119:S601P	ENSP00000003084:S631P	S	+	1	0	CFTR	117019348	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.736000	0.55052	2.261000	0.74972	0.460000	0.39030	TCA		0.338	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		34	31	0	0	0	1	0	34	31					C	117232112	T	C	117232112	3	2	214	1	0	0	0	0	1	0	0	0	3294	1783	62	3	1945	3	CFTR	7	117232112	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		117232112	41906551	7	27143											
FSCN3	29999	broad.mit.edu	37	chr7	127240376	127240376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggcccccaatggcttcTacatgcgagccgaccaaagt	9	14	1	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:127240376T>C	ENST00000265825.5	+	6	1639	c.1420T>C	c.(1420-1422)Tac>Cac	p.Y474H	FSCN3_ENST00000420086.2_Missense_Mutation_p.L338P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	474						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATGGCTTCTACATGCGAGC	0.517																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1420-1422)Tac>Cac		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							83	73	76					7																	127240376		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240376T>C		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1420T>C	7.37:g.127240376T>C	ENSP00000265825:p.Tyr474His					FSCN3_ENST00000420086.2_Missense_Mutation_p.L338P	p.Y474H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			6	1639	+			474					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1420T>C	CCDS34746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.09|12.09	1.832752|1.832752	0.32421|0.32421	.|.	.|.	ENSG00000106328|ENSG00000106328	ENST00000420086|ENST00000265825	T|T	0.53423|0.65549	0.62|-0.16	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Actin cross-linking (1);	.|0.000000	.|0.53938	.|D	.|0.000043	T|T	0.70133|0.70133	0.3189|0.3189	L|L	0.36672|0.36672	1.1|1.1	0.47778|0.47778	D|D	0.999513|0.999513	D|D	0.76494|0.76494	0.999|0.999	D|D	0.85130|0.75484	0.997|0.986	T|T	0.73167|0.73167	-0.4068|-0.4068	9|10	0.87932|0.87932	D|D	0|0	-31.9683|-31.9683	12.436|12.436	0.55600|0.55600	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	338|474	B4DU68|Q9NQT6	.|FSCN3_HUMAN	P|H	338|474	ENSP00000412243:L338P|ENSP00000265825:Y474H	ENSP00000412243:L338P|ENSP00000265825:Y474H	L|Y	+|+	2|1	0|0	FSCN3|FSCN3	127027612|127027612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	4.304000|4.304000	0.59104|0.59104	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	CTA|TAC		0.517	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		12	31	0	0	0	1	0	12	31					C	127240376	T	C	127240376	3	2	214	1	0	0	0	0	1	0	0	0	6069	1522	53	3	1442	3	FSCN3	7	127240376	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	10008264	127240376	31898287	8	27144											
EXT1	2131	broad.mit.edu	37	chr8	118842536	118842536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacaagaattgtgtctgcTgtctaagtgctaggatttta	9	8	2	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr8:118842536T>C	ENST00000378204.2	-	4	2023	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	406					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGTGTCTGCTGTCTAAGTGC	0.378			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"Mis, N, F, S"	multiple exostoses type 1 gene			M		"exostoses, osteosarcoma"			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(1216-1218)cAg>cGg		exostosin glycosyltransferase 1							93	93	93					8																	118842536		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118842536T>C	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1217A>G	8.37:g.118842536T>C	ENSP00000367446:p.Gln406Arg						p.Q406R	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		4	2023	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		406					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.1217A>G	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	t	31	5.065969	0.93898	.	.	ENSG00000182197	ENST00000378204	D	0.95482	-3.72	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	L	0.52011	1.625	0.80722	D	1	D	0.58620	0.983	P	0.58620	0.842	D	0.94377	0.7601	10	0.19590	T	0.45	-25.2808	16.8061	0.85666	0.0:0.0:0.0:1.0	.	406	Q16394	EXT1_HUMAN	R	406	ENSP00000367446:Q406R	ENSP00000367446:Q406R	Q	-	2	0	EXT1	118911717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.367000	0.80283	0.528000	0.53228	CAG		0.378	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		18	10	0	0	0	1	0	18	10					C	118842536	T	C	118842536	3	2	214	1	0	0	0	0	1	0	0	0	5323	1580	55	3	1055	3	EXT1	8	118842536	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		118842536	27521486	9	27145											
FREM1	158326	broad.mit.edu	37	chr9	14805068	14805068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgacgtacaccgtgaactgGtcggcagttggttctatcct	12	10	1	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:14805068G>T	ENST00000380880.3	-	19	4140	c.3357C>A	c.(3355-3357)gaC>gaA	p.D1119E	FREM1_ENST00000422223.2_Missense_Mutation_p.D1119E|FREM1_ENST00000380881.4_Missense_Mutation_p.D1120E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1119					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)		CCGTGAACTGGTCGGCAGTTG	0.438																																						ENST00000380881.4																			0				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						c.(3358-3360)gaC>gaA		FRAS1 related extracellular matrix 1							163	157	159					9																	14805068		1944	4147	6091	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805068G>T	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.3357C>A	9.37:g.14805068G>T	ENSP00000370262:p.Asp1119Glu					FREM1_ENST00000422223.2_Missense_Mutation_p.D1119E|FREM1_ENST00000380880.3_Missense_Mutation_p.D1119E	p.D1120E			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4175	-			1119					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3360C>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768481	0.49680	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46451	0.87;0.87;0.87	5.42	-1.56	0.08532	.	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	H	0.95504	3.68	0.42030	D	0.991028	D	0.89917	1.0	D	0.91635	0.999	T	0.75637	-0.3249	10	0.72032	D	0.01	-20.0316	11.8123	0.52189	0.4764:0.0:0.5236:0.0	.	1119	Q5H8C1	FREM1_HUMAN	E	1120;1119;1119	ENSP00000370263:D1120E;ENSP00000412940:D1119E;ENSP00000370262:D1119E	ENSP00000370257:D1122E	D	-	3	2	FREM1	14795068	1.000000	0.71417	0.842000	0.33263	0.163000	0.22366	1.050000	0.30404	-0.193000	0.10415	-0.142000	0.14014	GAC		0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	55	1	0	5.9392e-07	1	6.11918e-07	6	55					T	14805068	G	T	14805068	3	4	214	1	0	0	0	0	1	0	0	0	6044	1252	44	4	3308	4	FREM1	9	14805068	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		14805068	126408363	10	27146											
LGI1	9211	broad.mit.edu	37	chr10	95557288	95557288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcctcgttccaggatAttcagaggatgccatcgcga	12	11	1	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:95557288A>G	ENST00000371418.4	+	8	1662	c.1402A>G	c.(1402-1404)Att>Gtt	p.I468V	LGI1_ENST00000542308.1_Missense_Mutation_p.I420V|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	468					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTTCCAGGATATTCAGAGGAT	0.428																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1402-1404)Att>Gtt		leucine-rich, glioma inactivated 1							101	99	100					10																	95557288		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95557288A>G	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1402A>G	10.37:g.95557288A>G	ENSP00000360472:p.Ile468Val					LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.I420V	p.I468V	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1662	+		Colorectal(252;0.124)	468					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1402A>G	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.672520	0.00758	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.80653	-1.4;-1.4	5.17	2.82	0.32997	.	0.317607	0.32901	N	0.005510	T	0.59500	0.2198	L	0.28274	0.84	0.39859	D	0.97334	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.50294	-0.8845	10	0.02654	T	1	-8.2114	4.307	0.10951	0.6327:0.0:0.1791:0.1882	.	420;468	O95970-3;O95970	.;LGI1_HUMAN	V	420;468	ENSP00000440763:I420V;ENSP00000360472:I468V	ENSP00000360472:I468V	I	+	1	0	LGI1	95547278	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.755000	0.38379	0.990000	0.38787	-0.256000	0.11100	ATT		0.428	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		28	22	0	0	0	1	0	28	22					G	95557288	A	G	95557288	3	3	214	1	0	0	0	0	1	0	0	0	8751	449	16	3	1432	3	LGI1	10	95557288	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		95557288	39977459	11	27147											
PDCD11	22984	broad.mit.edu	37	chr10	105185105	105185105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggtcacagggactgTcaagtccattaagcctaccc	10	12	2	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:105185105T>C	ENST00000369797.3	+	20	3222	c.3128T>C	c.(3127-3129)gTc>gCc	p.V1043A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1043	S1 motif 9. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGGGACTGTCAAGTCCATT	0.502																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3127-3129)gTc>gCc		programmed cell death 11							192	144	160					10																	105185105		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105185105T>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3128T>C	10.37:g.105185105T>C	ENSP00000358812:p.Val1043Ala						p.V1043A	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	3222	+		Colorectal(252;0.0747)|Breast(234;0.128)	1043			S1 motif 9.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.3128T>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001260	0.93227	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.69926	-0.44	6.04	6.04	0.98038	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.054048	0.64402	D	0.000001	D	0.87724	0.6249	H	0.97240	3.965	0.58432	D	0.999999	D	0.69078	0.997	D	0.63703	0.917	D	0.91978	0.5592	10	0.87932	D	0	-17.4991	16.5763	0.84648	0.0:0.0:0.0:1.0	.	1043	Q14690	RRP5_HUMAN	A	1043	ENSP00000358812:V1043A	ENSP00000358812:V1043A	V	+	2	0	PDCD11	105175095	1.000000	0.71417	0.993000	0.49108	0.871000	0.50021	7.291000	0.78721	2.317000	0.78254	0.459000	0.35465	GTC		0.502	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			6	72	0	0	0	1	0	6	72					C	105185105	T	C	105185105	3	2	214	1	0	0	0	0	1	0	0	0	11617	1667	58	3	3202	3	PDCD11	10	105185105	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	9627817	105185105	30349642	12	27148											
ZMYM2	7750	broad.mit.edu	37	chr13	20656935	20656935	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaagggtcaatattctctCgagttgaagaagactatctc	8	7	3	3			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr13:20656935C>T	ENST00000382874.2	+	24	3773	c.3583C>T	c.(3583-3585)Cga>Tga	p.R1195*	ZMYM2_ENST00000382871.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000382869.3_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1195					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)		AATATTCTCTCGAGTTGAAGA	0.313																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(3583-3585)Cga>Tga		zinc finger, MYM-type 2							49	44	45					13																	20656935		1796	4060	5856	SO:0001587	stop_gained	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20656935C>T	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.3583C>T	13.37:g.20656935C>T	ENSP00000372327:p.Arg1195*					ZMYM2_ENST00000382871.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000382874.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000382870.2_Nonsense_Mutation_p.R575*|ZMYM2_ENST00000494061.1_3'UTR	p.R1195*	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		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)	23	3834	+		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)	1195					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Nonsense_Mutation	SNP	ENST00000382874.2	37	c.3583C>T	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	C	43	10.457996	0.99409	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	.	.	.	5.2	5.2	0.72013	.	0.118748	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2885	19.0826	0.93188	0.0:1.0:0.0:0.0	.	.	.	.	X	1195;1195;1193;1193;573	.	ENSP00000372322:R1195X	R	+	1	2	ZMYM2	19554935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.774000	0.55341	2.573000	0.86826	0.484000	0.47621	CGA		0.313	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		6	5	0	0	0	1	0	6	5					T	20656935	C	T	20656935	4	4	214	1	0	0	0	0	0	1	0	0	17697	876	31	1	3665	1	ZMYM2	13	20656935	Nonsense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		20656935	94512943	13	27149											
CCNB2	9133	broad.mit.edu	37	chr15	59409442	59409442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaggttgatgttgaacagCacactttagccaagtatttg	9	7	0	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:59409442C>T	ENST00000288207.2	+	7	1041	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	284					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGTTGAACAGCACACTTTAGC	0.423																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(850-852)Cac>Tac		cyclin B2							126	110	115					15																	59409442		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59409442C>T	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.850C>T	15.37:g.59409442C>T	ENSP00000288207:p.His284Tyr					CCNB2_ENST00000559622.1_Intron	p.H284Y	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			7	1041	+			284					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.850C>T	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925914	0.73327	.	.	ENSG00000157456	ENST00000288207	T	0.22743	1.94	5.48	5.48	0.80851	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.76574	2.34	0.80722	D	1	P	0.46277	0.875	P	0.52189	0.692	T	0.31447	-0.9943	10	0.72032	D	0.01	.	18.3301	0.90265	0.0:1.0:0.0:0.0	.	284	O95067	CCNB2_HUMAN	Y	284	ENSP00000288207:H284Y	ENSP00000288207:H284Y	H	+	1	0	CCNB2	57196734	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.574000	0.86865	0.655000	0.94253	CAC		0.423	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		10	44	0	0	0	1	0	10	44					T	59409442	C	T	59409442	3	4	214	1	0	0	0	0	1	0	0	0	2913	710	25	2	876	2	CCNB2	15	59409442	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		59409442	43121950	14	27150											
BBS4	585	broad.mit.edu	37	chr15	73028230	73028230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcgagaagaagaacGccctggcccaatatcaggag	13	11	1	3	rs370963556		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:73028230G>A	ENST00000268057.4	+	14	1212	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	BBS4_ENST00000542334.1_Missense_Mutation_p.A219T|BBS4_ENST00000395205.2_Missense_Mutation_p.A399T|BBS4_ENST00000539603.1_Missense_Mutation_p.A379T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1171-1173)Gcc>Acc		Bardet-Biedl syndrome 4		G	THR/ALA	0,4396		0,0,2198	130	125	127		1171	5.7	1	15		127	1,8593	1.2+/-3.3	0,1,4296	no	missense	BBS4	NM_033028.3	58	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	391/520	73028230	1,12989	2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73028230G>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1171G>A	15.37:g.73028230G>A	ENSP00000268057:p.Ala391Thr					BBS4_ENST00000539603.1_Missense_Mutation_p.A379T|BBS4_ENST00000542334.1_Missense_Mutation_p.A219T|BBS4_ENST00000395205.2_Missense_Mutation_p.A399T	p.A391T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			14	1212	+			391			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1171G>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102863	0.56183	0.0	1.16E-4	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;D;D;D	0.91740	-0.67;-2.9;-2.9;-2.9	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.164086	0.53938	D	0.000051	D	0.92564	0.7638	M	0.71581	2.175	0.80722	D	1	D;P;P	0.56035	0.974;0.945;0.956	P;B;B	0.45099	0.469;0.313;0.278	D	0.93404	0.6763	10	0.72032	D	0.01	-10.4598	17.98	0.89138	0.0:0.0:1.0:0.0	.	379;399;391	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	T	219;391;379;399	ENSP00000445964:A219T;ENSP00000268057:A391T;ENSP00000442492:A379T;ENSP00000378631:A399T	ENSP00000268057:A391T	A	+	1	0	BBS4	70815283	1.000000	0.71417	0.961000	0.40146	0.319000	0.28217	7.526000	0.81920	2.686000	0.91538	0.650000	0.86243	GCC		0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		9	93	0	0	0	1	0	9	93					A	73028230	G	A	73028230	3	1	214	1	0	0	0	0	1	0	0	0	1339	1087	38	1	1225	1	BBS4	15	73028230	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	13618788	73028230	29503162	15	27151											
AMAC1L3	643664	broad.mit.edu	37	chr17	7385920	7385920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactggcgctgtccctggGgcttctggtctatcgttctc	13	12	3	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7385920G>A	ENST00000412468.2	+	2	732	c.617G>A	c.(616-618)gGg>gAg	p.G206E	POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	206						integral component of membrane (GO:0016021)											CTGTCCCTGGGGCTTCTGGTC	0.622																																						ENST00000412468.2																			0											c.(616-618)gGg>gAg		solute carrier family 35, member G6							85	89	88					17																	7385920		2203	4300	6503	SO:0001583	missense	643664					integral to membrane		g.chr17:7385920G>A		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.617G>A	17.37:g.7385920G>A	ENSP00000396523:p.Gly206Glu					ZBTB4_ENST00000311403.4_Intron	p.G206E	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	732	+			206						Missense_Mutation	SNP	ENST00000412468.2	37	c.617G>A	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	G	7.287	0.610340	0.14066	.	.	ENSG00000181222	ENST00000412468	T	0.27402	1.67	4.25	2.22	0.28083	.	.	.	.	.	T	0.27098	0.0664	L	0.51422	1.61	0.29601	N	0.847687	B	0.18013	0.025	B	0.12837	0.008	T	0.20306	-1.0279	9	0.59425	D	0.04	-1.1302	8.2727	0.31853	0.1942:0.0:0.8058:0.0	.	206	P0C7Q6	S35G6_HUMAN	E	206	ENSP00000396523:G206E	ENSP00000396523:G206E	G	+	2	0	SLC35G6	7326644	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	2.257000	0.43240	0.378000	0.24764	-0.251000	0.11542	GGG		0.622	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		56	96	0	0	0	1	0	56	96					A	7385920	G	A	7385920	3	1	214	1	0	0	0	0	1	0	0	0	561	1232	43	2	623	2	AMAC1L3	17	7385920	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		7385920	73809290	16	27152											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	23	9	0	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000574684.1_5'Flank	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (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.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)	GCGGACGCGGGTGCCGGGCGG	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(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	GRCh37	CM942117	TP53	M		c.(463-465)aCc>aAc	Other conserved DNA damage response genes	tumor protein p53							50	52	51					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578466G>T	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.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn	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)				TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000269305.4_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N	p.T155N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	596	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.464C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		73	10	1	0	2.13026e-44	1	2.33642e-44	73	10					T	7578466	G	T	7578466	3	4	214	1	0	0	0	0	1	0	0	0	16378	1261	44	4	834	4	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	192546	7578466	73616744	17	27153											
KIAA1632	57724	broad.mit.edu	37	chr18	43534467	43534467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagcagcagttgcttccTacatcgtgagtagttcaaaa	9	10	1	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr18:43534467T>C	ENST00000282041.5	-	2	935	c.901A>G	c.(901-903)Agg>Ggg	p.R301G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	301					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTTGCTTCCTACATCGTGAG	0.423																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(901-903)Agg>Ggg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							109	105	106					18																	43534467		1926	4150	6076	SO:0001583	missense	57724				autophagy			g.chr18:43534467T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.901A>G	18.37:g.43534467T>C	ENSP00000282041:p.Arg301Gly						p.R301G	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	935	-			301					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.901A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763338	0.69763	.	.	ENSG00000152223	ENST00000282041	T	0.17370	2.28	6.07	2.07	0.26955	.	0.657496	0.14976	N	0.287531	T	0.41050	0.1142	M	0.66939	2.045	0.47374	D	0.999403	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.42865	-0.9426	10	0.87932	D	0	-15.8834	16.2438	0.82431	0.0:0.0:0.5905:0.4095	.	301;301	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	G	301	ENSP00000282041:R301G	ENSP00000282041:R301G	R	-	1	2	EPG5	41788465	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.636000	0.24644	0.466000	0.27193	-0.313000	0.08912	AGG		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		43	44	0	0	0	1	0	43	44					C	43534467	T	C	43534467	3	2	214	1	0	0	0	0	1	0	0	0	8249	1521	53	3	7010	3	KIAA1632	18	43534467	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		43534467	34542781	18	27154											
MAP1S	55201	broad.mit.edu	37	chr19	17845207	17845207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgtccatgcaggatgaCgccttcccggcctgcaaggt	13	12	0	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:17845207C>T	ENST00000324096.4	+	7	3301	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.D1024D	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1050	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGGATGACGCCTTCCCGG	0.632																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(3148-3150)gaC>gaT		microtubule-associated protein 1S							108	76	87					19																	17845207		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17845207C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.3150C>T	19.37:g.17845207C>T						CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.D1024D	p.D1050D	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			7	3301	+			1050			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.3150C>T	CCDS32954.1																																																																																				0.632	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		21	46	0	0	0	1	0	21	46					T	17845207	C	T	17845207	2	4	214	1	0	0	0	0	0	0	0	1	9234	535	19	1		1	MAP1S	19	17845207	Silent	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17845207	41283776	19	27155											
MEIS3	56917	broad.mit.edu	37	chr19	47910360	47910360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggttggattgatcgatcaTaggttgcacgatgcgtctcc	13	9	2	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:47910360T>C	ENST00000558555.1	-	10	1157	c.970A>G	c.(970-972)Atg>Gtg	p.M324V	MEIS3_ENST00000559524.1_Missense_Mutation_p.M370V|MEIS3_ENST00000331559.5_Missense_Mutation_p.M353V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.M370V|MEIS3_ENST00000561096.1_Missense_Mutation_p.M412V|MEIS3_ENST00000441740.2_Missense_Mutation_p.M307V			Q99687	MEIS3_HUMAN	Meis homeobox 3	324					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGATCGATCATAGGTTGCACG	0.607																																						ENST00000331559.5																			0				breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20						c.(1057-1059)Atg>Gtg		Meis homeobox 3							77	43	54					19																	47910360		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47910360T>C	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.970A>G	19.37:g.47910360T>C	ENSP00000454073:p.Met324Val					MEIS3_ENST00000561096.1_Missense_Mutation_p.M412V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Missense_Mutation_p.M370V|MEIS3_ENST00000558555.1_Missense_Mutation_p.M324V|MEIS3_ENST00000441740.2_Missense_Mutation_p.M307V|MEIS3_ENST00000561293.1_Missense_Mutation_p.M370V	p.M353V	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	10	1498	-		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)	324					A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.1057A>G		.	.	.	.	.	.	.	.	.	.	T	21.0	4.087874	0.76642	.	.	ENSG00000105419	ENST00000331559;ENST00000441740;ENST00000437609	D	0.83506	-1.73	4.24	4.24	0.50183	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.74467	2.265	0.51767	D	0.99993	P;P;B;P;P	0.49447	0.924;0.886;0.174;0.599;0.924	P;P;B;B;P	0.60682	0.878;0.489;0.244;0.207;0.878	D	0.89800	0.3974	10	0.87932	D	0	-28.1673	11.6047	0.51024	0.0:0.0:0.0:1.0	.	216;324;307;370;199	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	V	370;307;1	ENSP00000388667:M307V	ENSP00000333552:M370V	M	-	1	0	MEIS3	52602172	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.064000	0.76721	1.915000	0.55452	0.358000	0.22013	ATG		0.607	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		5	8	0	0	0	1	0	5	8					C	47910360	T	C	47910360	3	2	214	1	0	0	0	0	1	0	0	0	9469	1406	49	3	169	3	MEIS3	19	47910360	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	30065153	47910360	11218623	20	27156											
MN1	4330	broad.mit.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgctgctgtTgctgctgctgctgctgctgc					rs34890218|rs45480998|rs45597040	byFrequency	TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		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						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		1	Substitution - coding silent(1)	p.Q532Q(1)	prostate(1)	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						c.(1594-1599)caa>ca		meningioma (disrupted in balanced translocation) 1				226,138,2110		41,6,138,37,58,957						-0.4	1		dbSNP_126	5	429,825,4222		34,24,337,178,445,1720	no	codingComplex	MN1	NM_002430.2		75,30,475,215,503,2677	A1A1,A1A2,A1R,A2A2,A2R,RR		22.8999,14.713,20.3522				655,963,6332				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194934_28194936delTGC	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.1596_1598delGCA	22.37:g.28194943_28194945delTGC	ENSP00000304956:p.Gln550del						p.QQ548del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2550_2552	-			548			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1596_1598delGCA	CCDS42998.1																																																																																				0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	5						3	5	---	---	---	---	-	28194936	TGC	-	28194934	7	5	214	1	0	1	0	1	0	0	0	0	9673	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-FG-A4MX-01A-11D-A26M-08		28194934	23109632	21	27157											
EIF3L	51386	broad.mit.edu	37	chr22	38258980	38258980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgttttctttacagggggGaccttccttggagcagaggt	13	8	1	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:38258980G>A	ENST00000412331.2	+	6	1022	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G49E	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTACAGGGGGGACCTTCCTTG	0.388																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(439-441)gGa>gAa		eukaryotic translation initiation factor 3, subunit L							91	91	91					22																	38258980		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38258980G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.440G>A	22.37:g.38258980G>A	ENSP00000416892:p.Gly147Glu					EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G49E	p.G147E	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			6	1022	+			147						Missense_Mutation	SNP	ENST00000412331.2	37	c.440G>A	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676162	0.88445	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000406934;ENST00000451427	T;T	0.40756	1.02;1.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.66297	2.02	0.80722	D	1	P;D;D	0.71674	0.831;0.992;0.998	B;P;P	0.61722	0.23;0.817;0.893	T	0.66598	-0.5883	10	0.87932	D	0	-9.2343	18.2336	0.89942	0.0:0.0:1.0:0.0	.	49;147;190	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	E	147;190;164;49;123	ENSP00000416892:G147E;ENSP00000384634:G49E	ENSP00000384634:G49E	G	+	2	0	EIF3L	36588926	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	9.015000	0.93640	2.376000	0.81061	0.585000	0.79938	GGA		0.388	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		33	35	0	0	0	1	0	33	35					A	38258980	G	A	38258980	3	1	214	1	0	0	0	0	1	0	0	0	5022	1174	41	2	462	2	EIF3L	22	38258980	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	10064046	38258980	13045586	22	27158											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	6						4	6	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	214	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-FG-A4MX-01A-11D-A26M-08		51239296	104031264	23	27159											
ATRX	546	broad.mit.edu	37	chrX	76855965	76855965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtccatattctacttaAcatctgaaaatcttggaaaa	5	7	3	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:76855965A>C	ENST00000373344.5	-	23	5849	c.5635T>G	c.(5635-5637)Tta>Gta	p.L1879V	ATRX_ENST00000395603.3_Missense_Mutation_p.L1841V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					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						ATTCTACTTAACATCTGAAAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5635-5637)Tta>Gta		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						216	187	197					X																	76855965		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855965A>C	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.5635T>G	X.37:g.76855965A>C	ENSP00000362441:p.Leu1879Val					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1841V	p.L1879V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5849	-			1879					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5635T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860596	0.51482	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95137	-3.62;-3.62	5.2	5.2	0.72013	SNF2-related (1);	0.000000	0.53938	U	0.000044	D	0.98015	0.9346	H	0.95470	3.675	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.91635	0.99;0.999	D	0.99016	1.0816	10	0.72032	D	0.01	-4.5329	14.125	0.65215	1.0:0.0:0.0:0.0	.	1841;1879	P46100-4;P46100	.;ATRX_HUMAN	V	1879;1841	ENSP00000362441:L1879V;ENSP00000378967:L1841V	ENSP00000362441:L1879V	L	-	1	2	ATRX	76742621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.746000	0.74866	1.713000	0.51359	0.437000	0.28790	TTA		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		51	10	0	0	0	1	0	51	10					C	76855965	A	C	76855965	3	2	214	1	0	0	0	0	1	0	0	0	1208	40	2	5	1895	5	ATRX	23	76855965	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08	25616669	76855965	78414595	24	27160											
PCDH19	57526	broad.mit.edu	37	chrX	99551565	99551565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccattgcctgcctcccGgataacgctgttgaccttgg	10	14	0	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:99551565G>A	ENST00000373034.4	-	6	4832	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	PCDH19_ENST00000255531.7_Missense_Mutation_p.R1006W|PCDH19_ENST00000420881.2_Missense_Mutation_p.R1005W|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1053					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						CCTGCCTCCCGGATAACGCTG	0.592																																						ENST00000373034.4																			0				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						c.(3157-3159)Cgg>Tgg		protocadherin 19							54	56	55					X																	99551565		2142	4236	6378	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551565G>A	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.3157C>T	X.37:g.99551565G>A	ENSP00000362125:p.Arg1053Trp					PCDH19_ENST00000255531.7_Missense_Mutation_p.R1006W|PCDH19_ENST00000420881.2_Missense_Mutation_p.R1005W	p.R1053W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			6	4832	-			1053					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.3157C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777876	0.70107	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.56275	0.47;0.61;0.47	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.967;0.928	T	0.70299	-0.4910	10	0.62326	D	0.03	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	1053;1006;1005	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	W	1005;1053;1006	ENSP00000400327:R1005W;ENSP00000362125:R1053W;ENSP00000255531:R1006W	ENSP00000255531:R1006W	R	-	1	2	PCDH19	99438221	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.087000	0.94110	2.413000	0.81919	0.600000	0.82982	CGG		0.592	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	24	0	0	0	1	0	3	24					A	99551565	G	A	99551565	3	1	214	1	0	0	0	0	1	0	0	0	11514	1115	39	1	293	1	PCDH19	23	99551565	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	22695600	99551565	55718995	25	27161											
PDE4DIP	9659	broad.mit.edu	37	chr1	144856852	144856852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggccagggaagctgcaCgctgatctcacaagagacac	11	12	2	2	rs377520030		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:144856852C>T	ENST00000369354.3	-	40	6822	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	PDE4DIP_ENST00000530740.1_Silent_p.A2296A|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.A2347A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					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)	p.A2211A(1)		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)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - coding silent(1)	p.A2211A(1)	haematopoietic_and_lymphoid_tissue(1)	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						c.(7039-7041)gcG>gcA		phosphodiesterase 4D interacting protein							39	31	34					1																	144856852		2199	4286	6485	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856852C>T	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.6633G>A	1.37:g.144856852C>T						PDE4DIP_ENST00000369354.3_Silent_p.A2211A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000530740.1_Silent_p.A2296A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A|PDE4DIP_ENST00000524974.1_5'UTR	p.A2347A			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	7079	-			2211					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.7041G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	5.637	0.302253	0.10678	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-1.01	0.10169	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.32646	N	0.519982	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	1.5392	0.02551	0.1278:0.2204:0.3685:0.2833	.	.	.	.	H	288	.	.	R	-	2	0	PDE4DIP	143568209	0.000000	0.05858	0.052000	0.19188	0.068000	0.16541	-1.120000	0.03273	0.239000	0.21243	-0.693000	0.03709	CGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	8	0	0	0	1	0	3	8					T	144856852	C	T	144856852	2	4	215	1	0	0	0	0	0	0	0	1	11643	523	19	1		1	PDE4DIP	1	144856852	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		144856852	104393769	1	27162											
MSH2	4436	broad.mit.edu	37	chr2	47705575	47705575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttactgccttggccaAtcagataccaactgttaata	6	10	1	2	rs587782891		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:47705575A>G	ENST00000233146.2	+	14	2598	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	MSH2_ENST00000406134.1_Missense_Mutation_p.N792S|MSH2_ENST00000543555.1_Missense_Mutation_p.N726S	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	792					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.?(2)		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)			GCCTTGGCCAATCAGATACCA	0.393			"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																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"D, Mis, N, F, S"	mutS homolog 2 (E. coli)			E		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(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						c.(2374-2376)aAt>aGt	Mismatch excision repair (MMR)	mutS homolog 2							183	174	177					2																	47705575		2203	4300	6503	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47705575A>G	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.2375A>G	2.37:g.47705575A>G	ENSP00000233146:p.Asn792Ser					MSH2_ENST00000233146.2_Missense_Mutation_p.N792S|MSH2_ENST00000543555.1_Missense_Mutation_p.N726S	p.N792S			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		14	2437	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	792					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.2375A>G	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.11|13.11	2.139509|2.139509	0.37728|0.37728	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000419559|ENST00000233146;ENST00000543555;ENST00000406134;ENST00000413880	.|D;D;D	.|0.84873	.|-1.91;-1.91;-1.91	5.3|5.3	2.87|2.87	0.33458|0.33458	.|DNA mismatch repair protein MutS, C-terminal (2);	.|0.704071	.|0.14993	.|N	.|0.286571	T|T	0.69061|0.69061	0.3069|0.3069	N|N	0.04787|0.04787	-0.16|-0.16	0.29916|0.29916	N|N	0.823164|0.823164	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.08055	.|0.001;0.003;0.001	T|T	0.61417|0.61417	-0.7067|-0.7067	6|10	0.66056|0.45353	D|T	0.02|0.12	-6.4555|-6.4555	9.4485|9.4485	0.38712|0.38712	0.8548:0.0:0.1452:0.0|0.8548:0.0:0.1452:0.0	.|.	.|726;792;792	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	V|S	792|792;726;792;578	.|ENSP00000233146:N792S;ENSP00000442697:N726S;ENSP00000384199:N792S	ENSP00000391195:I792V|ENSP00000233146:N792S	I|N	+|+	1|2	0|0	MSH2|MSH2	47559079|47559079	0.431000|0.431000	0.25546|0.25546	0.968000|0.968000	0.41197|0.41197	0.994000|0.994000	0.84299|0.84299	1.325000|1.325000	0.33724|0.33724	0.323000|0.323000	0.23307|0.23307	0.523000|0.523000	0.50628|0.50628	ATC|AAT		0.393	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			4	54	0	0	0	1	0	4	54					G	47705575	A	G	47705575	3	3	215	1	0	0	0	0	1	0	0	0	9870	101	4	3	2429	3	MSH2	2	47705575	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		47705575	195493798	2	27163											
TTN	7273	broad.mit.edu	37	chr2	179592490	179592490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcatccttaaaccatttTattttaaatggtggtgttcc	5	8	1	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:179592490T>C	ENST00000591111.1	-	66	19088	c.18864A>G	c.(18862-18864)atA>atG	p.I6288M	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I6605M|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5361M|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13064	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)			TAAACCATTTTATTTTAAATG	0.413																																						ENST00000589042.1																			0				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						c.(19813-19815)atA>atG		titin							175	172	173					2																	179592490		1867	4099	5966	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592490T>C	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.18864A>G	2.37:g.179592490T>C	ENSP00000465570:p.Ile6288Met					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5361M|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6288M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.I6605M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20039	-			6288			Ig-like 47.		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	ENST00000591111.1	37	c.19815A>G		.	.	.	.	.	.	.	.	.	.	T	9.026	0.986087	0.18889	.	.	ENSG00000155657	ENST00000342992	T	0.72282	-0.64	5.99	-3.55	0.04639	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75810	0.3900	M	0.91459	3.21	0.80722	D	1	P	0.46327	0.876	P	0.47044	0.535	T	0.78396	-0.2220	9	0.87932	D	0	.	8.3253	0.32153	0.3195:0.0:0.4186:0.2619	.	6288	Q8WZ42	TITIN_HUMAN	M	5361	ENSP00000343764:I5361M	ENSP00000343764:I5361M	I	-	3	3	TTN	179300735	0.450000	0.25697	0.987000	0.45799	0.998000	0.95712	-0.314000	0.08092	-0.435000	0.07264	0.533000	0.62120	ATA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	92	0	0	0	1	0	8	92					C	179592490	T	C	179592490	3	2	215	1	0	0	0	0	1	0	0	0	16732	1744	61	3	84894	3	TTN	2	179592490	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	131886915	179592490	63606883	3	27164											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			8	23	0	0	0	1	0	8	23					T	209113112	C	T	209113112	3	4	215	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	29520622	209113112	34086261	4	27165											
ALPP	250	broad.mit.edu	37	chr2	233243710	233243710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacccggacttctggaacCgcgaggcagccgaggccctg	14	14	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:233243710C>T	ENST00000392027.2	+	2	375	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	36					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCTGGAACCGCGAGGCAGC	0.632																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(106-108)Cgc>Tgc		alkaline phosphatase, placental							67	81	76					2																	233243710		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243710C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.106C>T	2.37:g.233243710C>T	ENSP00000375881:p.Arg36Cys						p.R36C	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	2	375	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	36					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.106C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	6.477	0.456152	0.12283	.	.	ENSG00000163283	ENST00000392027	T	0.38401	1.14	2.32	2.32	0.28847	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.673460	0.02939	N	0.140242	T	0.34308	0.0893	L	0.49350	1.555	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.28138	-1.0053	10	0.59425	D	0.04	.	4.861	0.13583	0.3213:0.4952:0.1834:0.0	.	36	P05187	PPB1_HUMAN	C	36	ENSP00000375881:R36C	ENSP00000375881:R36C	R	+	1	0	ALPP	232951954	0.000000	0.05858	0.343000	0.25615	0.412000	0.31113	-0.293000	0.08320	1.294000	0.44707	0.306000	0.20318	CGC		0.632	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		9	97	0	0	0	1	0	9	97					T	233243710	C	T	233243710	3	4	215	1	0	0	0	0	1	0	0	0	548	652	23	1	112	1	ALPP	2	233243710	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	24130598	233243710	9955663	5	27166											
FANCD2	2177	broad.mit.edu	37	chr3	10083383	10083383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgacttgacccaaacTtcctattgaaggtagaaaag	8	11	0	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:10083383T>G	ENST00000419585.1	+	10	933	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	FANCD2_ENST00000383807.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F258V|FANCD2_ENST00000287647.3_Missense_Mutation_p.F258V			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	258	Interaction with BRCA2.|Interaction with FANCE.				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)		TGACCCAAACTTCCTATTGAA	0.438			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				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						c.(772-774)Ttc>Gtc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							90	87	88					3																	10083383		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10083383T>G	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.772T>G	3.37:g.10083383T>G	ENSP00000398754:p.Phe258Val					FANCD2_ENST00000383806.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F258V|FANCD2_ENST00000419585.1_Missense_Mutation_p.F258V	p.F258V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	10	865	+			258			Interaction with BRCA2.|Interaction with FANCE.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.772T>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	8.107	0.778025	0.16120	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.05	3.09	0.35607	.	0.119284	0.56097	D	0.000023	T	0.27063	0.0663	N	0.14661	0.345	0.27360	N	0.95598	B;B	0.24132	0.098;0.098	B;B	0.26969	0.075;0.075	T	0.16247	-1.0409	10	0.23891	T	0.37	.	7.4563	0.27268	0.0:0.7639:0.0:0.2361	.	258;258	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	V	258	ENSP00000287647:F258V;ENSP00000373318:F258V;ENSP00000373317:F258V;ENSP00000398754:F258V	ENSP00000287647:F258V	F	+	1	0	FANCD2	10058383	0.848000	0.29623	0.058000	0.19502	0.016000	0.09150	1.452000	0.35156	0.483000	0.27608	-0.479000	0.04858	TTC		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			11	25	0	0	0	1	0	11	25					G	10083383	T	G	10083383	3	3	215	1	0	0	0	0	1	0	0	0	5665	1609	56	5	806	5	FANCD2	3	10083383	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		10083383	187939047	6	27167											
SEMA3B	7869	broad.mit.edu	37	chr3	50313252	50313252	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagtggactttccagcgcGcaggggtgacagcccacacc	14	13	0	1	rs367707188		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:50313252G>T	ENST00000418948.1	+	0	2056							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTCCAGCGCGCAGGGGTGAC	0.692																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B		G	SER/ALA,SER/ALA	0,3962		0,0,1981	21	24	23		1821,1818	-0.3	0.3	3		23	1,8295		0,1,4147	no	missense,missense	SEMA3B	NM_004636.2,NM_001005914.1	99,99	0,1,6128	TT,TG,GG		0.0121,0.0,0.0082	benign,benign	608/750,607/749	50313252	1,12257	1981	4148	6129			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50313252G>T	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50313252G>T										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	2056	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	8.086	0.773405	0.16051	0.0	1.21E-4	ENSG00000012171	ENST00000316347	.	.	.	4.75	-0.286	0.12862	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.263511	0.37219	N	0.002193	T	0.12008	0.0292	.	.	.	.	.	.	B;B;B;B	0.11235	0.002;0.004;0.002;0.001	B;B;B;B	0.17433	0.012;0.018;0.012;0.004	T	0.20940	-1.0260	7	0.06891	T	0.86	.	1.1726	0.01829	0.2679:0.1507:0.4264:0.155	.	607;357;607;608	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	S	607	.	ENSP00000446262:A607S	A	+	1	0	SEMA3B	50288256	0.000000	0.05858	0.273000	0.24645	0.285000	0.27093	0.078000	0.14761	-0.420000	0.07427	-1.138000	0.01928	GCA		0.692	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		10	26	1	0	1.58986e-06	1	1.68339e-06	10	26					T	50313252	G	T	50313252	1	4	215	0	1	0	0	0	0	0	0	0	14025	1087	38	4		4	SEMA3B	3	50313252	RNA	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	40229869	50313252	147709178	7	27168											
EIF4G1	1981	broad.mit.edu	37	chr3	184042736	184042736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccggcggcgctctttagGgaatatcaagtttattggag	13	8	2	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:184042736G>A	ENST00000346169.2	+	18	2961	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	EIF4G1_ENST00000434061.2_Missense_Mutation_p.G702E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G858E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G811E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G897E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G904E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G733E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G701E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G734E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G857E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G810E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.G898E|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	897	eIF3/EIF4A-binding.				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)			CGCTCTTTAGGGAATATCAAG	0.483																																						ENST00000342981.4																			0				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						c.(2692-2694)gGg>gAg		eukaryotic translation initiation factor 4 gamma, 1							77	86	83					3																	184042736		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042736G>A	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.2690G>A	3.37:g.184042736G>A	ENSP00000316879:p.Gly897Glu					EIF4G1_ENST00000346169.2_Missense_Mutation_p.G897E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G702E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G858E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G897E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G811E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G734E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G701E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G733E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G904E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G857E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G810E	p.G898E	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	3107	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		897			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2693G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086819	0.94100	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.65	5.65	0.86999	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	H	0.96239	3.79	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	0.80544	-0.1335	10	0.87932	D	0	-20.3554	19.7311	0.96182	0.0:0.0:1.0:0.0	.	904;898;897;904	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	897;857;810;904;838;733;904;811;898;897;904;858;733;734;702;701	ENSP00000316879:G897E;ENSP00000391935:G857E;ENSP00000376320:G810E;ENSP00000371767:G904E;ENSP00000403269:G838E;ENSP00000317600:G733E;ENSP00000338020:G904E;ENSP00000407682:G811E;ENSP00000343450:G898E;ENSP00000323737:G897E;ENSP00000416255:G904E;ENSP00000395974:G858E;ENSP00000398145:G733E;ENSP00000399858:G734E;ENSP00000411826:G702E;ENSP00000404754:G701E	ENSP00000323737:G897E	G	+	2	0	EIF4G1	185525430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.665000	0.98609	2.677000	0.91161	0.561000	0.74099	GGG		0.483	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		22	52	0	0	0	1	0	22	52					A	184042736	G	A	184042736	3	1	215	1	0	0	0	0	1	0	0	0	5036	1232	43	2	2752	2	EIF4G1	3	184042736	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	133729484	184042736	13979694	8	27169											
LETM1	3954	broad.mit.edu	37	chr4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaagtctttggtggCgctgcccttggctgccttgt	13	11	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:1836604C>T	ENST00000302787.2	-	5	1140	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	282	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(844-846)Gcc>Acc		leucine zipper-EF-hand containing transmembrane protein 1							131	114	120					4																	1836604		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1836604C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.844G>A	4.37:g.1836604C>T	ENSP00000305653:p.Ala282Thr						p.A282T	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		5	1140	-			282			LETM1.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.844G>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.222550	0.79464	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.45276	0.9	5.2	5.2	0.72013	LETM1-like (1);	0.221262	0.41294	D	0.000910	T	0.41236	0.1150	N	0.19112	0.55	0.43010	D	0.994545	D;P;D	0.61080	0.989;0.954;0.979	P;B;P	0.52758	0.708;0.285;0.59	T	0.16100	-1.0414	10	0.20519	T	0.43	-22.7535	18.7392	0.91767	0.0:1.0:0.0:0.0	.	282;242;282	O95202-3;O95202-2;O95202	.;.;LETM1_HUMAN	T	282;242	ENSP00000305653:A282T	ENSP00000305653:A282T	A	-	1	0	LETM1	1806402	1.000000	0.71417	0.937000	0.37676	0.983000	0.72400	7.229000	0.78088	2.433000	0.82419	0.486000	0.48141	GCC		0.547	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			12	81	0	0	0	1	0	12	81					T	1836604	C	T	1836604	3	4	215	1	0	0	0	0	1	0	0	0	8734	768	27	1	1415	1	LETM1	4	1836604	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		1836604	189317672	9	27170											
ANKRD50	57182	broad.mit.edu	37	chr4	125590681	125590681	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgactccactcaaattcacTacttggtgaattatgactct	5	10	3	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:125590681T>C	ENST00000504087.1	-	4	4788	c.3751A>G	c.(3751-3753)Agt>Ggt	p.S1251G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1072G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1251	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAAATTCACTACTTGGTGAA	0.433																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3751-3753)Agt>Ggt		ankyrin repeat domain 50							181	183	183					4																	125590681		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590681T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3751A>G	4.37:g.125590681T>C	ENSP00000425658:p.Ser1251Gly					ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1072G	p.S1251G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4788	-			1251			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3751A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055823	0.36277	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68181	-0.31;-0.27	5.36	5.36	0.76844	.	0.042158	0.85682	D	0.000000	T	0.52917	0.1764	N	0.24115	0.695	0.38075	D	0.936483	B	0.22800	0.075	B	0.19946	0.027	T	0.52495	-0.8568	10	0.23891	T	0.37	.	15.5299	0.75952	0.0:0.0:0.0:1.0	.	1251	Q9ULJ7	ANR50_HUMAN	G	1251;1072	ENSP00000425658:S1251G;ENSP00000425355:S1072G	ENSP00000425658:S1251G	S	-	1	0	ANKRD50	125810131	1.000000	0.71417	0.915000	0.36163	0.995000	0.86356	4.453000	0.60061	2.254000	0.74563	0.459000	0.35465	AGT		0.433	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		22	66	0	0	0	1	0	22	66					C	125590681	T	C	125590681	3	2	215	1	0	0	0	0	1	0	0	0	677	1522	53	3	542	3	ANKRD50	4	125590681	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	123754077	125590681	65563595	10	27171											
FAF2	23197	broad.mit.edu	37	chr5	175913383	175913384	+	Frame_Shift_Ins	INS	-	-	A													acaggacagattgaatgagcINSaagagggcgtacctagtgtt					rs540774262		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr5:175913383_175913384insA	ENST00000261942.6	+	3	213_214	c.160_161insA	c.(160-162)caafs	p.Q54fs	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	54					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTGAATGAGCAAGAGGGCGTA	0.485																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(160-162)agafs		Fas associated factor family member 2																																				SO:0001589	frameshift_variant	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913383_175913384insA	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.162dupA	5.37:g.175913385_175913385dupA	ENSP00000261942:p.Gln54fs					FAF2_ENST00000510446.1_3'UTR	p.R54fs	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			3	213_214	+			54					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Frame_Shift_Ins	INS	ENST00000261942.6	37	c.160_161insA	CCDS34296.1																																																																																				0.485	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		10	53						10	53	---	---	---	---	A	175913384	-	A	175913383	7	5	215	1	0	1	1	0	0	0	0	0	5370	711	25	0	170	0	FAF2	5	175913383	Frame_Shift_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08		175913383	5001877	11	27172											
AARS2	57505	broad.mit.edu	37	chr6	44269151	44269151	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcagagactgtgtccacaatCagaggccccttcgagtgccg	12	13	1	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:44269151C>G	ENST00000244571.4	-	20	2651	c.2649G>C	c.(2647-2649)ctG>ctC	p.L883L	RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)			TGTCCACAATCAGAGGCCCCT	0.602																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2647-2649)ctG>ctC		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						100	108	105					6																	44269151		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269151C>G	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2649G>C	6.37:g.44269151C>G						AARS2_ENST00000491573.1_5'UTR|TMEM151B_ENST00000438774.2_Intron	p.L883L	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2651	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		883						Silent	SNP	ENST00000244571.4	37	c.2649G>C	CCDS34464.1																																																																																				0.602	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		11	172	0	0	0	1	0	11	172					G	44269151	C	G	44269151	2	3	215	1	0	0	0	0	0	0	0	1	20	813	29	4		4	AARS2	6	44269151	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		44269151	126845916	12	27173											
COL21A1	81578	broad.mit.edu	37	chr6	55990366	55990366	+	Splice_Site	DEL	T	T	-													ttgtgtgatctatacttcccTttttgccataaaatccaggt							TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:55990366delT	ENST00000244728.5	-	14	2046	c.1649delA	c.(1648-1650)aag>ag	p.K550fs	COL21A1_ENST00000370819.1_Splice_Site_p.K547fs|COL21A1_ENST00000535941.1_Splice_Site_p.K550fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	550	Collagen-like 3.				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)			TATACTTCCCTTTTTGCCATA	0.308																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.e14+1		collagen, type XXI, alpha 1							105	96	99					6																	55990366		1837	4082	5919	SO:0001630	splice_region_variant	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55990366delT	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.1650+1A>-	6.37:g.55990366delT						COL21A1_ENST00000370819.1_Splice_Site_p.K547_splice|COL21A1_ENST00000535941.1_Splice_Site_p.K550_splice	p.K550_splice	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		14	2046	-	Lung NSC(77;0.0483)		550			Collagen-like 2.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	DEL	ENST00000244728.5	37	c.1650_splice	CCDS55025.1																																																																																				0.308	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		Frame_Shift_Del	2	4						2	4	---	---	---	---	-	55990366	T	-	55990366	8	5	215	1	0	1	0	1	0	0	1	0	3680	1623	56	0	1292	0	COL21A1	6	55990366	Splice_Site	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	11721215	55990366	115124701	13	27174											
RWDD2A	112611	broad.mit.edu	37	chr6	83904244	83904244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttttctatgtttcctaAccaaggagaagtaaaacttg	8	7	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:83904244A>G	ENST00000369724.4	+	2	279	c.74A>G	c.(73-75)aAc>aGc	p.N25S	PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	25	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATGTTTCCTAACCAAGGAGAA	0.443																																						ENST00000369724.4																			0				cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5						c.(73-75)aAc>aGc		RWD domain containing 2A							100	94	96					6																	83904244		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83904244A>G	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.74A>G	6.37:g.83904244A>G	ENSP00000358739:p.Asn25Ser					RWDD2A_ENST00000539997.1_Intron	p.N25S	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	2	279	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	25			RWD.		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.74A>G	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461861	0.26248	.	.	ENSG00000013392	ENST00000369724	T	0.21734	1.99	5.03	5.03	0.67393	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.071883	0.56097	D	0.000024	T	0.05731	0.0150	L	0.32530	0.975	0.80722	D	1	B	0.27117	0.168	B	0.29598	0.104	T	0.07578	-1.0765	10	0.07175	T	0.84	-29.9709	10.1745	0.42931	0.9227:0.0:0.0773:0.0	.	25	Q9UIY3	RWD2A_HUMAN	S	25	ENSP00000358739:N25S	ENSP00000358739:N25S	N	+	2	0	RWDD2A	83960963	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.485000	0.60279	2.099000	0.63709	0.533000	0.62120	AAC		0.443	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		8	17	0	0	0	1	0	8	17					G	83904244	A	G	83904244	3	3	215	1	0	0	0	0	1	0	0	0	13755	43	2	3	76	3	RWDD2A	6	83904244	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	27913878	83904244	87210823	14	27175											
POU3F2	5454	broad.mit.edu	37	chr6	99282949	99282951	+	In_Frame_Del	DEL	ACG	ACG	-													gtggatcaccgcgctgtcccAcggcggcggcggcgggggcg							TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:99282949_99282951delACG	ENST00000328345.5	+	1	370_372	c.200_202delACG	c.(199-204)cacggc>cgc	p.67_68HG>R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	67	Poly-Gly.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCTGTCCCAcggcggcggcgg	0.793																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(199-204)cgc>c		POU class 3 homeobox 2																																				SO:0001651	inframe_deletion	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99282949_99282951delACG	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.200_202delACG	6.37:g.99282949_99282951delACG	ENSP00000329170:p.His67_Gly68delinsArg						p.HG67del	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	370_372	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	67					Q14960|Q86V54|Q9UJL0	In_Frame_Del	DEL	ENST00000328345.5	37	c.200_202delACG	CCDS5040.1																																																																																				0.793	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			2	4						2	4	---	---	---	---	-	99282951	ACG	-	99282949	7	5	215	1	0	1	0	1	0	0	0	0	12275	159	6	0	202	0	POU3F2	6	99282949	In_Frame_Del	DEL	ACG	TCGA-FG-A4MY-01A-11D-A26M-08	15378705	99282949	71832118	15	27176											
PLEKHG1	57480	broad.mit.edu	37	chr6	151055100	151055100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcagtggagagtggacTcaaacggggcacccaagacg	16	10	1	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:151055100T>C	ENST00000358517.2	+	2	494	c.283T>C	c.(283-285)Tca>Cca	p.S95P	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.S95P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	95							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)		GAGAGTGGACTCAAACGGGGC	0.587																																						ENST00000367328.1																			0				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						c.(283-285)Tca>Cca		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							46	51	49					6																	151055100		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151055100T>C	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.283T>C	6.37:g.151055100T>C	ENSP00000351318:p.Ser95Pro					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S95P	p.S95P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	595	+			95					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.283T>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	5.921	0.353911	0.11182	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59083	0.29;0.29	5.27	-9.26	0.00662	Dbl homology (DH) domain (1);	0.656672	0.16283	N	0.221268	T	0.06142	0.0159	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	9	.	.	.	.	2.2753	0.04101	0.4732:0.1449:0.1848:0.1971	.	95;95	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	P	95	ENSP00000356297:S95P;ENSP00000351318:S95P	.	S	+	1	0	PLEKHG1	151096793	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.063000	0.03465	-1.670000	0.01468	-1.096000	0.02151	TCA		0.587	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			12	38	0	0	0	1	0	12	38					C	151055100	T	C	151055100	3	2	215	1	0	0	0	0	1	0	0	0	12068	1551	54	3	285	3	PLEKHG1	6	151055100	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	51772151	151055100	20059967	16	27177											
PMS2	5395	broad.mit.edu	37	chr7	6017340	6017340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggggtccgaaggtccagTttttactagttggcaaggaa	13	8	0	0	rs17420802	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:6017340T>C	ENST00000265849.7	-	14	2429	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	PMS2_ENST00000406569.3_Missense_Mutation_p.T562A|PMS2_ENST00000441476.2_Missense_Mutation_p.N669S|PMS2_ENST00000382321.4_Missense_Mutation_p.N374S	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	775			N -> S (in dbSNP:rs17420802).		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)		GAAGGTCCAGTTTTTACTAGT	0.478			"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																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				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						c.(2323-2325)aAc>aGc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							146	114	125					7																	6017340		2196	4285	6481	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6017340T>C		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.2324A>G	7.37:g.6017340T>C	ENSP00000265849:p.Asn775Ser					PMS2_ENST00000382321.4_Missense_Mutation_p.N374S|PMS2_ENST00000406569.3_Missense_Mutation_p.T562A|PMS2_ENST00000441476.2_Missense_Mutation_p.N669S	p.N775S	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	14	2429	-		Ovarian(82;0.0694)	775		N -> S (in dbSNP:rs17420802).			B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.2324A>G	CCDS5343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.73|18.73	3.685517|3.685517	0.68157|0.68157	.|.	.|.	ENSG00000122512|ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476|ENST00000406569	T;T;T|D	0.75821|0.85258	-0.97;-0.97;-0.97|-1.96	5.75|5.75	4.59|4.59	0.56863|0.56863	MutL, C-terminal, dimerisation (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76652|0.76652	0.4017|0.4017	L|L	0.43598|0.43598	1.365|1.365	0.53688|0.53688	D|D	0.999977|0.999977	B;P;D|B	0.89917|0.27997	0.005;0.763;1.0|0.197	B;P;D|B	0.85130|0.28465	0.006;0.722;0.997|0.09	T|T	0.67476|0.67476	-0.5661|-0.5661	10|9	0.16896|0.06365	T|T	0.51|0.9	-15.8317|-15.8317	11.1798|11.1798	0.48620|0.48620	0.0:0.0721:0.0:0.9279|0.0:0.0721:0.0:0.9279	rs17420802|rs17420802	374;775;669|562	P54278-2;P54278;C9J167|P54278-3	.;PMS2_HUMAN;.|.	S|A	775;728;374;669|562	ENSP00000265849:N775S;ENSP00000371758:N374S;ENSP00000392843:N669S|ENSP00000384308:T562A	ENSP00000265849:N775S|ENSP00000384308:T562A	N|T	-|-	2|1	0|0	PMS2|PMS2	5983866|5983866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.873000|4.873000	0.63057|0.63057	1.007000|1.007000	0.39238|0.39238	0.448000|0.448000	0.29417|0.29417	AAC|ACT		0.478	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		6	56	0	0	0	1	0	6	56					C	6017340	T	C	6017340	3	2	215	1	0	0	0	0	1	0	0	0	12143	1725	60	3	272	3	PMS2	7	6017340	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		6017340	153121323	17	27178											
ABCA13	154664	broad.mit.edu	37	chr7	48312200	48312200	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatgaattattgaatattcaGagtagaggctcttcgttgac	9	5	2	5	rs200327749	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:48312200G>C	ENST00000435803.1	+	17	2961	c.2937G>C	c.(2935-2937)caG>caC	p.Q979H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	979					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						TGAATATTCAGAGTAGAGGCT	0.308													G|||	22	0.00439297	0.0	0.0029	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.0204					ENST00000435803.1																			0				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						c.(2935-2937)caG>caC		ATP-binding cassette, sub-family A (ABC1), member 13		G	HIS/GLN	0,3594		0,0,1797	42	41	41		2937	1.8	0	7		41	17,8109		0,17,4046	yes	missense	ABCA13	NM_152701.3	24	0,17,5843	CC,CG,GG		0.2092,0.0,0.1451	possibly-damaging	979/5059	48312200	17,11703	1797	4063	5860	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312200G>C	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.2937G>C	7.37:g.48312200G>C	ENSP00000411096:p.Gln979His						p.Q979H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2961	+			979					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2937G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.814051	0.16537	0.0	0.002092	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	5.67	1.84	0.25277	.	0.462575	0.18236	N	0.147420	D	0.87010	0.6071	M	0.64997	1.995	0.09310	N	1	D	0.57571	0.98	P	0.50231	0.635	T	0.78945	-0.2004	10	0.87932	D	0	.	8.8443	0.35162	0.2951:0.0:0.7049:0.0	.	979	Q86UQ4	ABCAD_HUMAN	H	979	ENSP00000411096:Q979H	ENSP00000411096:Q979H	Q	+	3	2	ABCA13	48282746	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.549000	0.23329	0.124000	0.18369	-0.768000	0.03414	CAG		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	21	0	0	0	1	0	3	21					C	48312200	G	C	48312200	3	2	215	1	0	0	0	0	1	0	0	0	31	933	33	4	2832	4	ABCA13	7	48312200	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	42294860	48312200	110826463	18	27179											
PAPPA	5069	broad.mit.edu	37	chr9	119144692	119144692	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcccttcatgggagacaatTattgtgatgccatcaacaac	8	10	2	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:119144692T>A	ENST00000328252.3	+	21	5065	c.4696T>A	c.(4696-4698)Tat>Aat	p.Y1566N	PAPPA_ENST00000534838.1_Missense_Mutation_p.Y604N|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1566					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						GGGAGACAATTATTGTGATGC	0.527																																						ENST00000328252.3																			0				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						c.(4696-4698)Tat>Aat		pregnancy-associated plasma protein A, pappalysin 1							141	123	129					9																	119144692		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119144692T>A		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.4696T>A	9.37:g.119144692T>A	ENSP00000330658:p.Tyr1566Asn					PAPPA_ENST00000534838.1_Missense_Mutation_p.Y604N|PAPPA_ENST00000483254.1_3'UTR	p.Y1566N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			21	5065	+			1566					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4696T>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913830	0.92178	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	D;D	0.91792	-2.91;-2.91	6.17	6.17	0.99709	Notch domain (2);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95257	0.8365	10	0.87932	D	0	-33.686	16.8222	0.85835	0.0:0.0:0.0:1.0	.	604;1566	F5GZ19;Q13219	.;PAPP1_HUMAN	N	1566;604	ENSP00000330658:Y1566N;ENSP00000441461:Y604N	ENSP00000330658:Y1566N	Y	+	1	0	PAPPA	118184513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.594000	0.82698	2.371000	0.80710	0.533000	0.62120	TAT		0.527	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		9	88	0	0	0	1	0	9	88					A	119144692	T	A	119144692	3	1	215	1	0	0	0	0	1	0	0	0	11432	1754	61	5	4778	5	PAPPA	9	119144692	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		119144692	22068739	19	27180											
VAV2	7410	broad.mit.edu	37	chr9	136641200	136641200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcggccggctgatgggCggctggtggcagagcacaag	20	9	0	2	rs150295787		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:136641200C>T	ENST00000371850.3	-	24	1999	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	VAV2_ENST00000371851.1_Silent_p.P646P|VAV2_ENST00000406606.3_Silent_p.P646P	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1936-1938)ccG>ccA		vav 2 guanine nucleotide exchange factor		C	,	1,4405	2.1+/-5.4	0,1,2202	65	62	63		1968,1938	-8	0.6	9	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	VAV2	NM_001134398.1,NM_003371.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	656/879,646/840	136641200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136641200C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1968G>A	9.37:g.136641200C>T						VAV2_ENST00000371850.3_Silent_p.P656P|VAV2_ENST00000406606.3_Silent_p.P646P	p.P646P			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	22	2263	-			656			SH3 1.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.1938G>A	CCDS48053.1																																																																																				0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			21	56	0	0	0	1	0	21	56					T	136641200	C	T	136641200	2	4	215	1	0	0	0	0	0	0	0	1	17129	755	27	1		1	VAV2	9	136641200	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	17496508	136641200	4572231	20	27181											
BMI1	648	broad.mit.edu	37	chr10	22618234	22618234	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgacaaatgctggagaActggaaagtgactctgggag	15	6	1	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:22618234A>G	ENST00000376663.3	+	10	1249	c.744A>G	c.(742-744)gaA>gaG	p.E248E	COMMD3-BMI1_ENST00000602390.1_Silent_p.E391E	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	248					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATGCTGGAGAACTGGAAAGTG	0.483																																						ENST00000376663.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(742-744)gaA>gaG		BMI1 polycomb ring finger oncogene							81	76	78					10																	22618234		2203	4300	6503	SO:0001819	synonymous_variant	648							g.chr10:22618234A>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.744A>G	10.37:g.22618234A>G						COMMD3-BMI1_ENST00000602390.1_Silent_p.E391E	p.E248E	NM_005180.8	NP_005171.4					10	1249	+								Q16030|Q5T8Z3|Q96F37	Silent	SNP	ENST00000376663.3	37	c.744A>G	CCDS7138.1																																																																																				0.483	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		4	49	0	0	0	1	0	4	49					G	22618234	A	G	22618234	2	3	215	1	0	0	0	0	0	0	0	1	1455	40	2	3		3	BMI1	10	22618234	Silent	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		22618234	112916513	21	27182											
PTPRJ	5795	broad.mit.edu	37	chr11	48152190	48152190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggcttgttccctggaAccaagtattgctttgaaata	10	7	0	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:48152190A>G	ENST00000418331.2	+	8	1889	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T513A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	513	Fibronectin type-III 5. {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						GTTCCCTGGAACCAAGTATTG	0.428																																						ENST00000418331.2																			0				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						c.(1537-1539)Acc>Gcc		protein tyrosine phosphatase, receptor type, J							87	85	86					11																	48152190		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48152190A>G	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.1537A>G	11.37:g.48152190A>G	ENSP00000400010:p.Thr513Ala					PTPRJ_ENST00000440289.2_Missense_Mutation_p.T513A	p.T513A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			8	1889	+			513			Fibronectin type-III 5.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1537A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169118	0.94768	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.60424	0.19;0.19	5.7	5.7	0.88788	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72366	0.3451	M	0.65498	2.005	0.43234	D	0.995134	D;D	0.76494	0.997;0.999	D;D	0.75020	0.976;0.985	T	0.74250	-0.3726	9	0.54805	T	0.06	.	12.364	0.55219	1.0:0.0:0.0:0.0	.	513;513	Q12913;Q6P4H4	PTPRJ_HUMAN;.	A	513	ENSP00000400010:T513A;ENSP00000409733:T513A	ENSP00000400010:T513A	T	+	1	0	PTPRJ	48108766	0.241000	0.23857	0.888000	0.34837	0.531000	0.34715	2.716000	0.47219	2.169000	0.68431	0.528000	0.53228	ACC		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			10	11	0	0	0	1	0	10	11					G	48152190	A	G	48152190	3	3	215	1	0	0	0	0	1	0	0	0	12804	43	2	3	1567	3	PTPRJ	11	48152190	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		48152190	86854326	22	27183											
A2M	2	broad.mit.edu	37	chr12	9232315	9232315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagataatccagtacatagAtgttaggagcaaagaggacc	10	6	0	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:9232315A>C	ENST00000318602.7	-	24	3258	c.2951T>G	c.(2950-2952)aTc>aGc	p.I984S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	984					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)	CAGTACATAGATGTTAGGAGC	0.433																																						ENST00000318602.7																			0				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						c.(2950-2952)aTc>aGc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						116	110	112					12																	9232315		2079	4261	6340	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9232315A>C	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.2951T>G	12.37:g.9232315A>C	ENSP00000323929:p.Ile984Ser					A2M_ENST00000542567.1_5'UTR	p.I984S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			24	3258	-			984					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2951T>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488948	0.84962	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.51071	0.72	5.08	5.08	0.68730	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	H	0.96518	3.835	0.53005	D	0.999966	D	0.89917	1.0	D	0.79784	0.993	D	0.85629	0.1269	10	0.87932	D	0	.	14.809	0.69979	1.0:0.0:0.0:0.0	.	984	P01023	A2MG_HUMAN	S	984;999	ENSP00000323929:I984S	ENSP00000323929:I984S	I	-	2	0	A2M	9123582	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.307000	0.96226	2.042000	0.60477	0.383000	0.25322	ATC		0.433	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	12	0	0	0	1	0	7	12					C	9232315	A	C	9232315	3	2	215	1	0	0	0	0	1	0	0	0	4	333	12	5	1525	5	A2M	12	9232315	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		9232315	124619580	23	27184											
GPR133	283383	broad.mit.edu	37	chr12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtggagctgtatacgCgggacaattccatgacatgg	13	9	1	1	rs144030317		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					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.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587																																						ENST00000261654.5																			1	Substitution - Missense(1)	p.R150W(1)	endometrium(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(448-450)Cgg>Tgg		G protein-coupled receptor 133			TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	97	91	93		448	4.2	0.3	12	dbSNP_134	93	0,8600		0,0,4300	no	missense	GPR133	NM_198827.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	150/875	131466566	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466566C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.448C>T	12.37:g.131466566C>T	ENSP00000261654:p.Arg150Trp					GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	p.R150W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	1007	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		150					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.448C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	14.51	2.558084	0.45590	2.27E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.74002	-0.8;-0.8	4.23	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.082006	0.49916	D	0.000135	D	0.85225	0.5648	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.87761	0.2598	10	0.87932	D	0	.	16.0019	0.80301	0.0:1.0:0.0:0.0	.	182;150	B7ZLF7;Q6QNK2	.;GP133_HUMAN	W	150;182	ENSP00000261654:R150W;ENSP00000444425:R182W	ENSP00000261654:R150W	R	+	1	2	GPR133	130032519	0.972000	0.33761	0.270000	0.24601	0.246000	0.25737	2.616000	0.46376	2.055000	0.61198	0.558000	0.71614	CGG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		14	45	0	0	0	1	0	14	45					T	131466566	C	T	131466566	3	4	215	1	0	0	0	0	1	0	0	0	6643	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	122234251	131466566	2385329	24	27185											
EIF4A1	1973	broad.mit.edu	37	chr17	7481686	7481686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaggtggacggtttggccGtaaaggtgtggctattaaca	15	6	0	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7481686G>A	ENST00000293831.8	+	11	1119	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	EIF4A1_ENST00000582746.1_Silent_p.P341P|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.P347P|CD68_ENST00000380498.6_5'Flank|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000250092.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	368	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)|organ regeneration (GO:0031100)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|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)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGTTTGGCCGTAAAGGTGTG	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(1102-1104)cGt>cAt		eukaryotic translation initiation factor 4A1							162	148	153					17																	7481686		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481686G>A	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1103G>A	17.37:g.7481686G>A	ENSP00000293831:p.Arg368His					SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Silent_p.P341P|EIF4A1_ENST00000577269.1_Silent_p.P347P	p.R368H	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			11	1119	+			368			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.1103G>A	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272684	0.80580	.	.	ENSG00000161960	ENST00000293831	T	0.29142	1.58	4.85	4.85	0.62838	Helicase, C-terminal (1);	0.048763	0.85682	N	0.000000	T	0.31327	0.0793	.	.	.	0.80722	D	1	P	0.50943	0.94	B	0.41202	0.35	T	0.24404	-1.0161	9	0.87932	D	0	-35.7993	15.8234	0.78676	0.0:0.0:1.0:0.0	.	368	P60842	IF4A1_HUMAN	H	368	ENSP00000293831:R368H	ENSP00000293831:R368H	R	+	2	0	EIF4A1	7422410	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.386000	0.97228	2.401000	0.81631	0.563000	0.77884	CGT		0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		8	81	0	0	0	1	0	8	81					A	7481686	G	A	7481686	3	1	215	1	0	0	0	0	1	0	0	0	5024	1145	40	1	1145	1	EIF4A1	17	7481686	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		7481686	73713524	25	27186											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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						c.(526-528)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>T	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y	p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	659	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	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;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	16	0	0	0	1	0	24	16					T	7578403	C	T	7578403	3	4	215	1	0	0	0	0	1	0	0	0	16378	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	96717	7578403	73616807	26	27187											
KIF2B	84643	broad.mit.edu	37	chr17	51901156	51901156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtccaagcaaaaggtggaCctcactcgctacctgcagaa	10	12	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:51901156C>A	ENST00000268919.4	+	1	918	c.762C>A	c.(760-762)gaC>gaA	p.D254E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	254	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)|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)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGGTGGACCTCACTCGCT	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(760-762)gaC>gaA		kinesin family member 2B							142	115	125					17																	51901156		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901156C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.762C>A	17.37:g.51901156C>A	ENSP00000268919:p.Asp254Glu						p.D254E	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	918	+			254			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.762C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337927	0.60963	.	.	ENSG00000141200	ENST00000268919	T	0.74209	-0.82	5.52	-1.73	0.08081	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000053	D	0.82848	0.5126	M	0.78637	2.42	0.31009	N	0.719472	P	0.51147	0.942	D	0.70016	0.967	T	0.82230	-0.0560	10	0.87932	D	0	.	11.9334	0.52860	0.0:0.4505:0.0:0.5495	.	254	Q8N4N8	KIF2B_HUMAN	E	254	ENSP00000268919:D254E	ENSP00000268919:D254E	D	+	3	2	KIF2B	49256155	0.716000	0.27956	0.997000	0.53966	0.862000	0.49288	-0.001000	0.12947	-0.113000	0.11958	-0.290000	0.09829	GAC		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	31	1	0	0.000673444	1	0.000699346	10	31					A	51901156	C	A	51901156	3	1	215	1	0	0	0	0	1	0	0	0	8298	506	18	4	764	4	KIF2B	17	51901156	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	44322753	51901156	29294054	27	27188											
TMEM104	54868	broad.mit.edu	37	chr17	72791232	72791232	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgctgctgccgtgcccttctCcctcatgcaggtgacctggt	11	15	2	1	rs267605043		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:72791232C>G	ENST00000335464.5	+	7	671	c.509C>G	c.(508-510)tCc>tGc	p.S170C	TMEM104_ENST00000582773.1_Missense_Mutation_p.S170C|TMEM104_ENST00000582330.1_Missense_Mutation_p.S170C|TMEM104_ENST00000417024.2_Missense_Mutation_p.S183C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	170						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)					GTGCCCTTCTCCCTCATGCAG	0.567																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(508-510)tCc>tGc		transmembrane protein 104							169	137	148					17																	72791232		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72791232C>G	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.509C>G	17.37:g.72791232C>G	ENSP00000334849:p.Ser170Cys					TMEM104_ENST00000582773.1_Missense_Mutation_p.S170C|TMEM104_ENST00000417024.2_Missense_Mutation_p.S183C|TMEM104_ENST00000582330.1_Missense_Mutation_p.S170C	p.S170C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			7	671	+	all_lung(278;0.23)		170					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.509C>G	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227429	0.79576	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	T;T	0.63580	4.19;-0.05	5.21	4.23	0.50019	.	0.170092	0.53938	D	0.000049	T	0.81908	0.4922	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.989	D	0.84139	0.0416	10	0.38643	T	0.18	-52.1311	15.4279	0.75069	0.1401:0.8599:0.0:0.0	.	183;170;170	B4DKL7;Q8NE00-2;Q8NE00	.;.;TM104_HUMAN	C	170;183	ENSP00000334849:S170C;ENSP00000397676:S183C	ENSP00000334849:S170C	S	+	2	0	TMEM104	70302827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.147000	0.77382	1.299000	0.44798	0.655000	0.94253	TCC		0.567	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		8	23	0	0	0	1	0	8	23					G	72791232	C	G	72791232	3	3	215	1	0	0	0	0	1	0	0	0	16015	855	30	4	531	4	TMEM104	17	72791232	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	20890076	72791232	8403978	28	27189											
PHLPP1	23239	broad.mit.edu	37	chr18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-													tgaagcatcaccaggagcaaCagcagcagcagcagccgcca							TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr18:60646563_60646565delCAG	ENST00000262719.5	+	17	5287_5289	c.5053_5055delCAG	c.(5053-5055)cagdel	p.Q1689del	PHLPP1_ENST00000400316.4_In_Frame_Del_p.Q1177del			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	Poly-Gln.				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						ccaggagcaacagcagcagcagc	0.586																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3517-3519)del		PH domain and leucine rich repeat protein phosphatase 1				118,3668		38,42,1813						1.3	1			7	265,7225		67,131,3547	no	coding	PHLPP1	NM_194449.2		105,173,5360	A1A1,A1R,RR		3.5381,3.1167,3.3966				383,10893				SO:0001651	inframe_deletion	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646563_60646565delCAG	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.5053_5055delCAG	18.37:g.60646572_60646574delCAG	ENSP00000262719:p.Gln1689del					PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	p.Q1177del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	5298_5300	+			1689			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	In_Frame_Del	DEL	ENST00000262719.5	37	c.3517_3519delCAG	CCDS45881.2																																																																																				0.586	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		2	4						2	4	---	---	---	---	-	60646565	CAG	-	60646563	7	5	215	1	0	1	0	1	0	0	0	0	11854	479	17	0	5119	0	PHLPP1	18	60646563	In_Frame_Del	DEL	CAG	TCGA-FG-A4MY-01A-11D-A26M-08		60646563	17430685	29	27190											
TRIOBP	11078	broad.mit.edu	37	chr22	38120527	38120527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcctgtgcccgacGggacgatcccagagcctcct	10	16	0	2	rs148083430	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr22:38120527G>A	ENST00000406386.3	+	7	2219	c.1964G>A	c.(1963-1965)cGg>cAg	p.R655Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	655					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)					TGTGCCCGACGGGACGATCCC	0.587													G|||	5	0.000998403	0.0008	0.0	5008	,	,		20818	0.0		0.004	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1963-1965)cGg>cAg		TRIO and F-actin binding protein		G	GLN/ARG	3,3949		0,3,1973	154	173	167		1964	-0.7	0	22	dbSNP_134	167	19,8323		0,19,4152	no	missense	TRIOBP	NM_001039141.2	43	0,22,6125	AA,AG,GG		0.2278,0.0759,0.1789	probably-damaging	655/2366	38120527	22,12272	1976	4171	6147	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120527G>A	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.1964G>A	22.37:g.38120527G>A	ENSP00000384312:p.Arg655Gln					RP1-37E16.12_ENST00000455236.1_RNA	p.R655Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2219	+	Melanoma(58;0.0574)		655					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1964G>A	CCDS43015.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	0	0.0	3	0.00395778364116095	G	16.54	3.152888	0.57259	7.59E-4	0.002278	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19394	2.15	4.91	-0.704	0.11256	.	.	.	.	.	T	0.14227	0.0344	L	0.40543	1.245	0.09310	N	1	B	0.24882	0.113	B	0.14023	0.01	T	0.28554	-1.0040	9	0.26408	T	0.33	.	7.4635	0.27308	0.4612:0.0:0.5388:0.0	.	655	Q9H2D6	TARA_HUMAN	Q	655	ENSP00000384312:R655Q	ENSP00000384312:R655Q	R	+	2	0	TRIOBP	36450473	0.008000	0.16893	0.000000	0.03702	0.046000	0.14306	-0.183000	0.09712	-0.160000	0.11002	0.460000	0.39030	CGG		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	54	0	0	0	1	0	4	54					A	38120527	G	A	38120527	3	1	215	1	0	0	0	0	1	0	0	0	16550	1116	39	1	1982	1	TRIOBP	22	38120527	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		38120527	13184039	30	27191											
DMD	1756	broad.mit.edu	37	chrX	32456488	32456488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgggttatcctctgaatgtCgcatcaaattttcaagtgac	8	8	3	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:32456488C>T	ENST00000357033.4	-	29	4147	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1310Q	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	1314					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)				CTCTGAATGTCGCATCAAATT	0.363													C|||	1	0.000264901	0.0	0.0	3775	,	,		13438	0.001		0.0	False		,,,				2504	0.0					ENST00000357033.4																			0				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						c.(3940-3942)cGa>cAa		dystrophin							120	100	107					X																	32456488		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32456488C>T	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.3941G>A	X.37:g.32456488C>T	ENSP00000354923:p.Arg1314Gln					DMD_ENST00000378677.2_Missense_Mutation_p.R1310Q	p.R1314Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			29	4147	-		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)	1314					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3941G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869676	0.33069	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.16324	2.35;2.35	5.82	1.76	0.24704	.	0.940538	0.08606	N	0.920690	T	0.11836	0.0288	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.11036	-1.0604	10	0.23891	T	0.37	.	9.6871	0.40105	0.0:0.3099:0.0:0.6901	.	1306;1314;1310	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Q	1306;1310;1314;1314;1191	ENSP00000367948:R1310Q;ENSP00000354923:R1314Q	ENSP00000354923:R1314Q	R	-	2	0	DMD	32366409	0.996000	0.38824	0.994000	0.49952	0.981000	0.71138	0.615000	0.24329	0.323000	0.23307	-0.296000	0.09543	CGA		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	11	0	0	0	1	0	6	11					T	32456488	C	T	32456488	3	4	215	1	0	0	0	0	1	0	0	0	4580	884	31	1	7563	1	DMD	23	32456488	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		32456488	122814072	31	27192											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		3	5						3	5	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	215	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08	16751807	49208295	106062265	32	27193											
MED12	9968	broad.mit.edu	37	chrX	70341257	70341257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccctggagaggatgaattGcttaaactgctgctgcctct	11	11	1	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:70341257G>T	ENST00000374080.3	+	6	848	c.816G>T	c.(814-816)ttG>ttT	p.L272F	MED12_ENST00000333646.6_Missense_Mutation_p.L272F|MED12_ENST00000374102.1_Missense_Mutation_p.L272F			Q93074	MED12_HUMAN	mediator complex subunit 12	272					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGATGAATTGCTTAAACTGC	0.498			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(814-816)ttG>ttT		mediator complex subunit 12							131	116	121					X																	70341257		1972	4150	6122	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70341257G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.816G>T	X.37:g.70341257G>T	ENSP00000363193:p.Leu272Phe					MED12_ENST00000374102.1_Missense_Mutation_p.L272F|MED12_ENST00000374080.3_Missense_Mutation_p.L272F	p.L272F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			6	1015	+	Renal(35;0.156)		272					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.816G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.505731	0.26949	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.59502	0.26;0.27;0.26;0.26	5.65	3.86	0.44501	.	0.080415	0.56097	D	0.000040	T	0.43831	0.1265	L	0.43152	1.355	0.48135	D	0.999595	B;B;B;B	0.17465	0.006;0.022;0.022;0.006	B;B;B;B	0.22386	0.029;0.012;0.039;0.013	T	0.48875	-0.8996	10	0.62326	D	0.03	-7.7956	1.9446	0.03354	0.1658:0.1208:0.4698:0.2435	.	272;119;272;272	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	272;272;272;272;240	ENSP00000333125:L272F;ENSP00000363215:L272F;ENSP00000363193:L272F;ENSP00000414203:L240F	ENSP00000333125:L272F	L	+	3	2	MED12	70257982	0.996000	0.38824	1.000000	0.80357	0.978000	0.69477	0.230000	0.17852	1.363000	0.46019	0.600000	0.82982	TTG		0.498	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	68	1	0	0.00307968	1	0.00313779	7	68					T	70341257	G	T	70341257	3	4	215	1	0	0	0	0	1	0	0	0	9428	1310	46	4	838	4	MED12	23	70341257	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	21132962	70341257	84929303	33	27194											
ATRX	546	broad.mit.edu	37	chrX	76874425	76874425	+	Frame_Shift_Del	DEL	T	T	-													tggatccaagtaaattttccTtgataaaattaaccatacaa							TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:76874425delT	ENST00000373344.5	-	21	5511	c.5297delA	c.(5296-5298)aagfs	p.K1766fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1728fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1766	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TAAATTTTCCTTGATAAAATT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5296-5298)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						49	45	47					X																	76874425		2203	4294	6497	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874425delT	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.5297delA	X.37:g.76874425delT	ENSP00000362441:p.Lys1766fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1728fs	p.K1766fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5511	-			1766			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5297delA	CCDS14434.1																																																																																				0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	11						6	11	---	---	---	---	-	76874425	T	-	76874425	7	5	215	1	0	1	0	1	0	0	0	0	1208	1609	56	0	2241	0	ATRX	23	76874425	Frame_Shift_Del	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	6533168	76874425	78396135	34	27195											
SYTL4	94121	broad.mit.edu	37	chrX	99931059	99931059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttggccattgaggaaCggagctgcagagtcccttct	12	11	2	2	rs139707843	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:99931059C>T	ENST00000372989.1	-	19	2313	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	SYTL4_ENST00000276141.6_Missense_Mutation_p.R661H|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000455616.1_Missense_Mutation_p.R661H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R661H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R663H|RP11-524D16__A.3_ENST00000568809.1_RNA	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	661					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)"	CATTGAGGAACGGAGCTGCAG	0.567													C|||	2	0.000529801	0.0	0.0	3775	,	,		13093	0.002		0.0	False		,,,				2504	0.0					ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1981-1983)cGt>cAt		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	113	80	91		1982,1982,1982	5.8	1	X	dbSNP_134	91	2,6726		0,2,2426,1872	yes	missense,missense,missense	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	29,29,29	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging,probably-damaging,probably-damaging	661/672,661/672,661/672	99931059	2,10561	2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99931059C>T		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.1982G>A	X.37:g.99931059C>T	ENSP00000362080:p.Arg661His					SYTL4_ENST00000276141.6_Missense_Mutation_p.R661H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R661H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R663H|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000372989.1_Missense_Mutation_p.R661H	p.R661H			Q96C24	SYTL4_HUMAN			18	2328	-			661					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1982G>A	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335662	0.95758	0.0	2.97E-4	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87208	0.2245	9	.	.	.	-14.154	19.0061	0.92851	0.0:1.0:0.0:0.0	.	661	Q96C24	SYTL4_HUMAN	H	661;661;663;661;661	ENSP00000362080:R661H;ENSP00000390252:R661H;ENSP00000403556:R663H;ENSP00000276141:R661H;ENSP00000263033:R661H	.	R	-	2	0	SYTL4	99817715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.437000	0.82529	0.538000	0.68166	CGT		0.567	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		5	14	0	0	0	1	0	5	14					T	99931059	C	T	99931059	3	4	215	1	0	0	0	0	1	0	0	0	15482	536	19	1	37	1	SYTL4	23	99931059	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	23056634	99931059	55339501	35	27196											
PAK3	5063	broad.mit.edu	37	chrX	110385328	110385328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacattttgcctttagccaaTaagaagaaggagaaagagcg	10	6	0	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:110385328T>C	ENST00000372010.1	+	6	622	c.180T>C	c.(178-180)aaT>aaC	p.N60N	PAK3_ENST00000518291.1_Silent_p.N60N|PAK3_ENST00000360648.4_Silent_p.N60N|PAK3_ENST00000446737.1_Silent_p.N60N|PAK3_ENST00000262836.4_Silent_p.N60N|PAK3_ENST00000519681.1_Silent_p.N60N|PAK3_ENST00000425146.1_Silent_p.N60N|PAK3_ENST00000372007.5_Silent_p.N60N|PAK3_ENST00000417227.1_Silent_p.N60N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	60					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTAGCCAATAAGAAGAAGG	0.388										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(178-180)aaT>aaC		p21 protein (Cdc42/Rac)-activated kinase 3							146	144	145					X																	110385328		2203	4300	6503	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385328T>C	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.180T>C	X.37:g.110385328T>C		TSP Lung(19;0.15)				PAK3_ENST00000262836.4_Silent_p.N60N|PAK3_ENST00000446737.1_Silent_p.N60N|PAK3_ENST00000425146.1_Silent_p.N60N|PAK3_ENST00000417227.1_Silent_p.N60N|PAK3_ENST00000518291.1_Silent_p.N60N|PAK3_ENST00000372007.4_Silent_p.N60N|PAK3_ENST00000372010.1_Silent_p.N60N|PAK3_ENST00000360648.4_Silent_p.N60N	p.N60N			O75914	PAK3_HUMAN			6	622	+			60					A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.180T>C	CCDS48153.1																																																																																				0.388	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		20	64	0	0	0	1	0	20	64					C	110385328	T	C	110385328	2	2	215	1	0	0	0	0	0	0	0	1	11402	1403	49	3		3	PAK3	23	110385328	Silent	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	10454269	110385328	44885232	36	27197											
MBNL3	55796	broad.mit.edu	37	chrX	131520820	131520820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctttggtatcagttgcAgtgtaccaggctgcagggcc	12	10	2	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:131520820A>G	ENST00000370853.3	-	5	869	c.791T>C	c.(790-792)cTg>cCg	p.L264P	MBNL3_ENST00000370839.3_Intron|MBNL3_ENST00000538204.1_Missense_Mutation_p.L214P|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.L168P|MBNL3_ENST00000370844.1_Missense_Mutation_p.L168P|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.L214P|MBNL3_ENST00000370857.3_Missense_Mutation_p.L264P	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	264					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|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)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTTGCAGTGTACCAGG	0.488																																						ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(640-642)cTg>cCg		muscleblind-like splicing regulator 3							115	109	111					X																	131520820		2203	4300	6503	SO:0001583	missense	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131520820A>G	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"Zinc fingers, CCCH-type domain containing"	20564	protein-coding gene	gene with protein product		300413	"muscleblind-like 3 (Drosophila)"			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.791T>C	X.37:g.131520820A>G	ENSP00000359890:p.Leu264Pro					MBNL3_ENST00000370844.1_Missense_Mutation_p.L168P|MBNL3_ENST00000370853.3_Missense_Mutation_p.L264P|MBNL3_ENST00000370839.3_Intron|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000394311.2_Missense_Mutation_p.L168P|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370849.3_Missense_Mutation_p.L214P|MBNL3_ENST00000370857.3_Missense_Mutation_p.L264P	p.L214P	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			5	706	-	Acute lymphoblastic leukemia(192;0.000127)		264					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	ENST00000370853.3	37	c.641T>C	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768764	0.69878	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370844;ENST00000442191;ENST00000436215;ENST00000421707	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.76	5.76	0.90799	.	0.520813	0.18874	N	0.128754	T	0.63141	0.2486	M	0.80847	2.515	0.80722	D	1	D;P;D;B	0.55385	0.971;0.928;0.971;0.36	P;P;P;B	0.58331	0.837;0.718;0.718;0.192	T	0.66492	-0.5910	10	0.54805	T	0.06	-2.7307	15.0212	0.71632	1.0:0.0:0.0:0.0	.	214;264;214;168	Q9NUK0-4;Q9NUK0;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.	P	168;214;264;264;214;168;45;168;168	ENSP00000377848:L168P;ENSP00000439618:L214P;ENSP00000359894:L264P;ENSP00000359890:L264P;ENSP00000359886:L214P;ENSP00000359881:L168P;ENSP00000412065:L45P;ENSP00000406014:L168P;ENSP00000402128:L168P	ENSP00000359881:L168P	L	-	2	0	MBNL3	131348501	1.000000	0.71417	0.620000	0.29132	0.776000	0.43924	9.228000	0.95250	1.930000	0.55929	0.486000	0.48141	CTG		0.488	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		19	42	0	0	0	1	0	19	42					G	131520820	A	G	131520820	3	3	215	1	0	0	0	0	1	0	0	0	9355	188	7	3	350	3	MBNL3	23	131520820	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	21135492	131520820	23749740	37	27198											
MAGEC2	51438	broad.mit.edu	37	chrX	141291734	141291734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgaggtcggggagtcgtTgtcaacgttgcggaatggaa	16	6	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:141291734T>C	ENST00000247452.3	-	3	387	c.40A>G	c.(40-42)Aac>Gac	p.N14D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	14					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)			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)					GGGGAGTCGTTGTCAACGTTG	0.522										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(40-42)Aac>Gac		melanoma antigen family C, 2							124	114	117					X																	141291734		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291734T>C	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.40A>G	X.37:g.141291734T>C	ENSP00000354660:p.Asn14Asp	HNSCC(46;0.14)					p.N14D	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	387	-	Acute lymphoblastic leukemia(192;6.56e-05)		14					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.40A>G	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.732659	0.00089	.	.	ENSG00000046774	ENST00000247452	T	0.02015	4.5	0.896	-1.79	0.07932	.	7.334620	0.00725	N	0.000915	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47381	-0.9122	9	0.38643	T	0.18	.	.	.	.	.	14	Q9UBF1	MAGC2_HUMAN	D	14	ENSP00000354660:N14D	ENSP00000354660:N14D	N	-	1	0	MAGEC2	141119400	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.424000	0.01029	-2.268000	0.00685	-2.044000	0.00415	AAC		0.522	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		17	100	0	0	0	1	0	17	100					C	141291734	T	C	141291734	3	2	215	1	0	0	0	0	1	0	0	0	9181	1812	63	3	1085	3	MAGEC2	23	141291734	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	9770914	141291734	13978826	38	27199											
TMEM187	8269	broad.mit.edu	37	chrX	153247936	153247936	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctggcggccctggctGttcctctctcttgagtgcgt	14	14	2	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:153247936G>C	ENST00000369982.4	+	2	1170	c.423G>C	c.(421-423)ctG>ctC	p.L141L	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	141						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)					GGCCCTGGCTGTTCCTCTCTC	0.677																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(421-423)ctG>ctC		transmembrane protein 187							31	24	27					X																	153247936		2203	4300	6503	SO:0001819	synonymous_variant	8269					integral to membrane|transport vesicle		g.chrX:153247936G>C	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.423G>C	X.37:g.153247936G>C							p.L141L	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1170	+	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)		141					B2RC47|Q6IAV7	Silent	SNP	ENST00000369982.4	37	c.423G>C	CCDS14739.1																																																																																				0.677	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		3	10	0	0	0	1	0	3	10					C	153247936	G	C	153247936	2	2	215	1	0	0	0	0	0	0	0	1	16106	1364	48	4		4	TMEM187	23	153247936	Silent	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	11956202	153247936	2022624	39	27200											
SH2D1B	117157	broad.mit.edu	37	chr1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtcttgcttggtcagaCgtccatggtagtaaggcaga	12	9	2	2	rs564269887		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	ENST00000367929.2	-	1	135	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		22717	0.0		0.0	False		,,,				2504	0.001					ENST00000367929.2																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(25-27)cGt>cAt		SH2 domain containing 1B							147	130	136					1																	162381781		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381781C>T	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.26G>A	1.37:g.162381781C>T	ENSP00000356906:p.Arg9His					SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H	p.R9H	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	135	-	all_hematologic(112;0.115)		9			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.26G>A	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521129	0.27211	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.88509	-2.39;-2.39	5.36	3.45	0.39498	SH2 motif (5);	0.592407	0.17321	N	0.178514	T	0.76478	0.3993	N	0.17345	0.48	0.23855	N	0.996651	P;P	0.43857	0.566;0.819	B;P	0.46940	0.121;0.532	T	0.75274	-0.3375	9	0.48119	T	0.1	-0.017	12.0561	0.53536	0.0:0.3569:0.6431:0.0	.	9;9	O14796-2;O14796	.;SH21B_HUMAN	H	9	ENSP00000356906:R9H;ENSP00000352571:R9H	ENSP00000352571:R9H	R	-	2	0	SH2D1B	160648405	0.628000	0.27138	0.982000	0.44146	0.067000	0.16453	0.674000	0.25218	0.783000	0.33636	-0.147000	0.13772	CGT		0.532	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		10	74	0	0	0	1	0	10	74					T	162381781	C	T	162381781	3	4	216	1	0	0	0	0	1	0	0	0	14231	536	19	1	388	1	SH2D1B	1	162381781	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		162381781	86868840	1	27201											
OR2M3	127062	broad.mit.edu	37	chr1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctatacatcactgcttggctCtgagtgctttcttttggctg	9	10	3	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	ENST00000456743.1	+	1	367	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	110						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)			CTGCTTGGCTCTGAGTGCTTT	0.458																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(328-330)tCt>tGt		olfactory receptor, family 2, subfamily M, member 3							250	255	254					1																	248366698		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366698C>G		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.329C>G	1.37:g.248366698C>G	ENSP00000389625:p.Ser110Cys						p.S110C	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	367	+	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)		110					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.329C>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.279	0.236872	0.10023	.	.	ENSG00000228198	ENST00000456743	T	0.01560	4.77	2.44	-4.88	0.03113	GPCR, rhodopsin-like superfamily (1);	0.554792	0.13599	N	0.375981	T	0.01695	0.0054	L	0.45352	1.415	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.38067	-0.9678	10	0.66056	D	0.02	.	6.77	0.23589	0.0:0.4307:0.3871:0.1822	.	110	Q8NG83	OR2M3_HUMAN	C	110	ENSP00000389625:S110C	ENSP00000389625:S110C	S	+	2	0	OR2M3	246433321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.763000	0.00784	-1.079000	0.03113	-0.491000	0.04670	TCT		0.458	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		22	286	0	0	0	1	0	22	286					G	248366698	C	G	248366698	3	3	216	1	0	0	0	0	1	0	0	0	11011	913	32	4	331	4	OR2M3	1	248366698	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	85984917	248366698	883923	2	27202											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	43	0	0	0	1	0	14	43					T	209113112	C	T	209113112	3	4	216	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		209113112	34086261	3	27203											
SEC61A1	29927	broad.mit.edu	37	chr3	127786281	127786281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacacgtcttctgggggCccagcacgtgcttatccagt	12	13	2	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	SEC61A1_ENST00000464451.1_Silent_p.G337G|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Silent_p.G211G|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(991-993)ggC>ggT		Sec61 alpha 1 subunit (S. cerevisiae)							133	132	132					3																	127786281		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127786281C>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.993C>T	3.37:g.127786281C>T						RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.G337G|SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR	p.G331G	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			10	1177	+			331					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.993C>T	CCDS3046.1																																																																																				0.483	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		51	97	0	0	0	1	0	51	97					T	127786281	C	T	127786281	2	4	216	1	0	0	0	0	0	0	0	1	14000	726	26	2		2	SEC61A1	3	127786281	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		127786281	70236149	4	27204											
PIK3R4	30849	broad.mit.edu	37	chr3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacaacgaccaggcctTctcggtgcttggctcgagca	10	15	2	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	ENST00000356763.3	-	2	697	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	47	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						GACCAGGCCTTCTCGGTGCTT	0.408																																						ENST00000356763.3																			0				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						c.(139-141)gAa>gGa		phosphoinositide-3-kinase, regulatory subunit 4							65	67	66					3																	130463923		2203	4299	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463923T>C	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.140A>G	3.37:g.130463923T>C	ENSP00000349205:p.Glu47Gly						p.E47G	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			2	697	-			47			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.140A>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.428793	0.62844	.	.	ENSG00000196455	ENST00000356763	T	0.06768	3.26	5.0	5.0	0.66597	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	0.11580	0.0282	L	0.33668	1.02	0.80722	D	1	P	0.41008	0.735	P	0.46685	0.524	T	0.14008	-1.0488	10	0.34782	T	0.22	-25.3693	15.0074	0.71524	0.0:0.0:0.0:1.0	.	47	Q99570	PI3R4_HUMAN	G	47	ENSP00000349205:E47G	ENSP00000349205:E47G	E	-	2	0	PIK3R4	131946613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.968000	0.87980	2.014000	0.59158	0.459000	0.35465	GAA		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		16	35	0	0	0	1	0	16	35					C	130463923	T	C	130463923	3	2	216	1	0	0	0	0	1	0	0	0	11921	1783	62	3	4012	3	PIK3R4	3	130463923	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2677642	130463923	67558507	5	27205											
CPZ	8532	broad.mit.edu	37	chr4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggaggtctgccagcccGccttcgacgccattgacatg	13	14	1	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	ENST00000360986.4	+	3	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000429646.2_5'Flank	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	132	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						CTGCCAGCCCGCCTTCGACGC	0.677																																						ENST00000360986.4																			0				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						c.(394-396)Gcc>Acc		carboxypeptidase Z																																				SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8603122G>A	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.394G>A	4.37:g.8603122G>A	ENSP00000354255:p.Ala132Thr					CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR	p.A132T	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN			3	568	+			132			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.394G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983583	0.74474	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.80033	-1.33;-1.33	3.41	3.41	0.39046	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	L	0.58428	1.81	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59357	0.854;0.856	D	0.87367	0.2348	10	0.66056	D	0.02	-27.7263	14.9966	0.71436	0.0:0.0:1.0:0.0	.	121;132	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	132;121	ENSP00000354255:A132T;ENSP00000315074:A121T	ENSP00000315074:A121T	A	+	1	0	CPZ	8654022	1.000000	0.71417	0.863000	0.33907	0.239000	0.25481	6.711000	0.74675	1.714000	0.51371	0.561000	0.74099	GCC		0.677	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	10	0	0	0	1	0	5	10					A	8603122	G	A	8603122	3	1	216	1	0	0	0	0	1	0	0	0	3839	1087	38	1	404	1	CPZ	4	8603122	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		8603122	182551154	6	27206											
TMEM155	132332	broad.mit.edu	37	chr4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actacatttctcagacaatcTtgcagatagcagtagccaat	6	10	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	ENST00000337677.5	-	6	941	c.383A>T	c.(382-384)aAg>aTg	p.K128M	TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	128						extracellular region (GO:0005576)				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(382-384)aAg>aTg		transmembrane protein 155							70	69	70					4																	122681459		2202	4300	6502	SO:0001583	missense	132332					extracellular region		g.chr4:122681459T>A	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.383A>T	4.37:g.122681459T>A	ENSP00000336987:p.Lys128Met					TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN			6	941	-			128					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.383A>T	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472352	0.43942	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394	T;T;T	0.56103	0.48;0.48;0.48	3.94	1.45	0.22620	.	0.173935	0.27447	N	0.019323	T	0.47637	0.1456	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.29912	-0.9996	10	0.87932	D	0	-0.5549	3.9221	0.09248	0.0:0.1135:0.2176:0.669	.	128	Q4W5P6	TM155_HUMAN	M	128	ENSP00000377919:K128M;ENSP00000336987:K128M;ENSP00000377917:K128M	ENSP00000336987:K128M	K	-	2	0	TMEM155	122900909	0.000000	0.05858	0.004000	0.12327	0.766000	0.43426	-0.004000	0.12878	0.324000	0.23333	0.528000	0.53228	AAG		0.403	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		16	28	0	0	0	1	0	16	28					A	122681459	T	A	122681459	3	1	216	1	0	0	0	0	1	0	0	0	16069	1609	56	5	13	5	TMEM155	4	122681459	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	114078337	122681459	68472817	7	27207											
KIAA1109	84162	broad.mit.edu	37	chr4	123271073	123271073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatgatatcaaggtcaAccacaccagatctgataaaa	6	8	3	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:123271073A>G	ENST00000264501.4	+	80	14066	c.13693A>G	c.(13693-13695)Acc>Gcc	p.T4565A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4565A			Q2LD37	K1109_HUMAN	KIAA1109	4565					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCAAGGTCAACCACACCAGA	0.393																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(13693-13695)Acc>Gcc		KIAA1109							204	193	197					4																	123271073		1823	4087	5910	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123271073A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13693A>G	4.37:g.123271073A>G	ENSP00000264501:p.Thr4565Ala					KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4565A	p.T4565A			Q2LD37	K1109_HUMAN			80	14066	+			4565					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13693A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421012	0.83559	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.58652	0.32;0.32;0.32	5.85	5.85	0.93711	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.98;0.992	T	0.79198	-0.1902	10	0.87932	D	0	.	16.2271	0.82306	1.0:0.0:0.0:0.0	.	4564;4565	Q2LD37-4;Q2LD37	.;K1109_HUMAN	A	4565;4565;1234;166	ENSP00000264501:T4565A;ENSP00000373390:T4565A;ENSP00000410874:T1234A	ENSP00000264501:T4565A	T	+	1	0	KIAA1109	123490523	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.339000	0.96797	2.234000	0.73211	0.460000	0.39030	ACC		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	156	0	0	0	1	0	4	156					G	123271073	A	G	123271073	3	3	216	1	0	0	0	0	1	0	0	0	8208	43	2	3	14003	3	KIAA1109	4	123271073	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	589614	123271073	67883203	8	27208											
NR3C2	4306	broad.mit.edu	37	chr4	149041414	149041414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcccctggcatagttcatAcatggcagactgatgcatct	8	12	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:149041414A>G	ENST00000358102.3	-	7	2898	c.2536T>C	c.(2536-2538)Tat>Cat	p.Y846H	NR3C2_ENST00000511528.1_Missense_Mutation_p.Y850H|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y729H|NR3C2_ENST00000355292.3_Missense_Mutation_p.Y850H|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y846H	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	846	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CATAGTTCATACATGGCAGAC	0.448																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2548-2550)Tat>Cat		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						138	119	125					4																	149041414		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149041414A>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2536T>C	4.37:g.149041414A>G	ENSP00000350815:p.Tyr846His					NR3C2_ENST00000511528.1_Missense_Mutation_p.Y850H|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y729H|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y846H|NR3C2_ENST00000342437.4_Silent_p.C680C|NR3C2_ENST00000358102.3_Missense_Mutation_p.Y846H	p.Y850H			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	7	2910	-	all_hematologic(180;0.151)		846			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2548T>C	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467620	0.84533	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.53	5.53	0.82687	.	0.198072	0.45361	D	0.000364	D	0.98226	0.9413	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.992	D	0.98959	1.0797	9	.	.	.	.	15.6453	0.77042	1.0:0.0:0.0:0.0	.	729;846	B0ZBF5;B0ZBF6	.;.	H	846;850;846;729;850	ENSP00000341390:Y846H;ENSP00000347441:Y850H;ENSP00000350815:Y846H;ENSP00000423510:Y729H;ENSP00000421481:Y850H	.	Y	-	1	0	NR3C2	149260864	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.046000	0.64226	2.102000	0.63906	0.454000	0.30748	TAT		0.448	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			3	81	0	0	0	1	0	3	81					G	149041414	A	G	149041414	3	3	216	1	0	0	0	0	1	0	0	0	10631	391	14	3	430	3	NR3C2	4	149041414	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	25770341	149041414	42112862	9	27209											
GPR98	84059	broad.mit.edu	37	chr5	89948203	89948203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttggtagtgtttctgtaTcttggcagctctttcagaat	9	7	4	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr5:89948203T>C	ENST00000405460.2	+	19	3553	c.3457T>C	c.(3457-3459)Tct>Cct	p.S1153P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1153	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				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)		TGTTTCTGTATCTTGGCAGCT	0.383																																						ENST00000405460.2																			0				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						c.(3457-3459)Tct>Cct		G protein-coupled receptor 98							176	164	168					5																	89948203		1910	4140	6050	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89948203T>C	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.3457T>C	5.37:g.89948203T>C	ENSP00000384582:p.Ser1153Pro						p.S1153P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	19	3553	+		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)	1153					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3457T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.51|12.51	1.959628|1.959628	0.34565|0.34565	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.27256	.|1.68	6.08|6.08	2.91|2.91	0.33838|0.33838	.|.	.|0.686593	.|0.16069	.|N	.|0.231081	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.11427|0.11427	0.14|0.14	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.31290	.|0.318	.|B	.|0.25405	.|0.06	T|T	0.15350|0.15350	-1.0440|-1.0440	5|10	.|0.36615	.|T	.|0.2	.|.	2.8253|2.8253	0.05483|0.05483	0.1061:0.1451:0.4277:0.3211|0.1061:0.1451:0.4277:0.3211	.|.	.|1153	.|Q8WXG9	.|GPR98_HUMAN	T|P	741|1153	.|ENSP00000384582:S1153P	.|ENSP00000296619:S1153P	I|S	+|+	2|1	0|0	GPR98|GPR98	89983959|89983959	0.914000|0.914000	0.31030|0.31030	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	0.691000|0.691000	0.25467|0.25467	0.860000|0.860000	0.35481|0.35481	-0.452000|-0.452000	0.05504|0.05504	ATC|TCT		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	140	0	0	0	1	0	4	140					C	89948203	T	C	89948203	3	2	216	1	0	0	0	0	1	0	0	0	6721	1435	50	3	3531	3	GPR98	5	89948203	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		89948203	90967057	10	27210											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	214						7	214	---	---	---	---	A	31939830	-	A	31939829	7	5	216	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08		31939829	139175238	11	27211											
HOXA7	3204	broad.mit.edu	37	chr7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgaggcgaaggcgccggCgcccgccccgtagccgcttc	16	17	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	ENST00000242159.3	-	1	263	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA7_ENST00000523796.2_5'Flank	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	44					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						AAGGCGCCGGCGCCCGCCCCG	0.607																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(130-132)Gcc>Acc		homeobox A7							33	46	42					7																	27196035		2188	4295	6483	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196035C>T		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.130G>A	7.37:g.27196035C>T	ENSP00000242159:p.Ala44Thr						p.A44T	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			1	263	-			44					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.130G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008030	0.35415	.	.	ENSG00000122592	ENST00000242159	T	0.29917	1.55	5.32	4.44	0.53790	.	0.254677	0.39083	N	0.001473	T	0.18215	0.0437	L	0.31294	0.92	0.46586	D	0.999115	B	0.30605	0.287	B	0.13407	0.009	T	0.06499	-1.0823	10	0.41790	T	0.15	.	7.139	0.25546	0.0:0.7092:0.1414:0.1494	.	44	P31268	HXA7_HUMAN	T	44	ENSP00000242159:A44T	ENSP00000242159:A44T	A	-	1	0	HOXA7	27162560	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	1.686000	0.37669	1.388000	0.46506	-0.258000	0.10820	GCC		0.607	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			23	143	0	0	0	1	0	23	143					T	27196035	C	T	27196035	3	4	216	1	0	0	0	0	1	0	0	0	7297	768	27	1	570	1	HOXA7	7	27196035	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		27196035	131942628	12	27212											
PHYHIP	9796	broad.mit.edu	37	chr8	22081799	22081799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggagaagcggagcatgCggcctgcgatctgctcagct	15	11	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:22081799C>T	ENST00000321613.3	-	5	854	c.398G>A	c.(397-399)cGc>cAc	p.R133H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.R133H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	133										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGAGCATGCGGCCTGCGAT	0.622																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(397-399)cGc>cAc		phytanoyl-CoA 2-hydroxylase interacting protein							43	59	53					8																	22081799		2121	4247	6368	SO:0001583	missense	9796							g.chr8:22081799C>T	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.398G>A	8.37:g.22081799C>T	ENSP00000320017:p.Arg133His					PHYHIP_ENST00000321613.3_Missense_Mutation_p.R133H	p.R133H	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	4	972	-			133					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.398G>A	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567392	0.86439	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.34072	1.38;1.38	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.74881	2.28	0.52501	D	0.999959	P	0.50369	0.934	B	0.42653	0.394	T	0.53927	-0.8369	10	0.66056	D	0.02	-39.1941	18.0725	0.89415	0.0:1.0:0.0:0.0	.	133	Q92561	PHYIP_HUMAN	H	133;133;85	ENSP00000320017:R133H;ENSP00000415491:R133H	ENSP00000320017:R133H	R	-	2	0	PHYHIP	22137744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.562000	0.86427	0.549000	0.68633	CGC		0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		4	72	0	0	0	1	0	4	72					T	22081799	C	T	22081799	3	4	216	1	0	0	0	0	1	0	0	0	11866	768	27	1	602	1	PHYHIP	8	22081799	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		22081799	124282223	13	27213											
LETM2	137994	broad.mit.edu	37	chr8	38262000	38262000	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagatgtgaagcccaagccGattgagataccactcagtgg	11	9	1	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	ENST00000379957.4	+	8	1321	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Silent_p.P351P|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000297720.5_Silent_p.P303P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	398						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)			AGCCCAAGCCGATTGAGATAC	0.557																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1192-1194)ccG>ccA		leucine zipper-EF-hand containing transmembrane protein 2							136	115	122					8																	38262000		2203	4300	6503	SO:0001819	synonymous_variant	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38262000G>A	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.1194G>A	8.37:g.38262000G>A						LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000297720.5_Silent_p.P303P	p.P398P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	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)		8	1321	+	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)	398					A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37	c.1194G>A		.	.	.	.	.	.	.	.	.	.	G	5.328	0.245762	0.10077	.	.	ENSG00000165046	ENST00000527175	.	.	.	5.46	-9.97	0.00440	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	.	1.2094	0.01902	0.1543:0.1768:0.2819:0.387	.	.	.	.	N	24	.	.	D	+	1	0	LETM2	38381157	0.000000	0.05858	0.819000	0.32651	0.559000	0.35586	-3.462000	0.00463	-1.194000	0.02684	-4.012000	0.00013	GAT		0.557	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		10	57	0	0	0	1	0	10	57					A	38262000	G	A	38262000	2	1	216	1	0	0	0	0	0	0	0	1	8735	1045	37	1		1	LETM2	8	38262000	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	16180201	38262000	108102022	14	27214											
XKR4	114786	broad.mit.edu	37	chr8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccacggattgaagaaTcagtcattaaaattgacttg	8	9	2	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	ENST00000327381.6	+	3	1877	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	593						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)			GATTGAAGAATCAGTCATTAA	0.488																																						ENST00000327381.5																			0				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						c.(1777-1779)Tca>Cca		XK, Kell blood group complex subunit-related family, member 4							104	101	102					8																	56436610		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436610T>C	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.1777T>C	8.37:g.56436610T>C	ENSP00000328326:p.Ser593Pro						p.S593P	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1877	+			593					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1777T>C	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	0.618	-0.822141	0.02755	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.79554	-1.28	5.82	5.82	0.92795	.	0.055638	0.64402	D	0.000001	T	0.54759	0.1878	N	0.01576	-0.805	0.47374	D	0.999407	B	0.17852	0.024	B	0.15484	0.013	T	0.59936	-0.7360	10	0.02654	T	1	-4.3585	16.1839	0.81934	0.0:0.0:0.0:1.0	.	593	Q5GH76	XKR4_HUMAN	P	593	ENSP00000328326:S593P	ENSP00000328326:S593P	S	+	1	0	XKR4	56599164	1.000000	0.71417	0.980000	0.43619	0.578000	0.36192	4.170000	0.58229	2.222000	0.72286	0.533000	0.62120	TCA		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		31	61	0	0	0	1	0	31	61					C	56436610	T	C	56436610	3	2	216	1	0	0	0	0	1	0	0	0	17430	1435	50	3	1787	3	XKR4	8	56436610	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	18174610	56436610	89927412	15	27215											
FAM154A	158297	broad.mit.edu	37	chr9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagggcatgtgtaatgggCctgcactgttgtcagaagat	13	7	1	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	ENST00000380534.4	-	4	1204	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(925-927)Gcc>Acc		family with sequence similarity 154, member A							100	90	94					9																	18928550		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928550C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.925G>A	9.37:g.18928550C>T	ENSP00000369907:p.Ala309Thr					FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T	p.A309T	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1204	-			309					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.925G>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	0.739	-0.777152	0.02929	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.22539	2.72;1.95	5.09	-3.28	0.05033	.	0.886390	0.09757	N	0.759807	T	0.10035	0.0246	N	0.22421	0.69	0.21861	N	0.999502	B	0.12013	0.005	B	0.16289	0.015	T	0.39781	-0.9597	10	0.13853	T	0.58	-4.8142	4.6369	0.12528	0.6037:0.1572:0.0994:0.1396	.	309	Q8IYX7	F154A_HUMAN	T	309;117	ENSP00000369907:A309T;ENSP00000438823:A117T	ENSP00000369907:A309T	A	-	1	0	FAM154A	18918550	0.002000	0.14202	0.578000	0.28575	0.675000	0.39556	-0.326000	0.07965	-0.933000	0.03737	-0.175000	0.13238	GCC		0.547	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		46	58	0	0	0	1	0	46	58					T	18928550	C	T	18928550	3	4	216	1	0	0	0	0	1	0	0	0	5463	739	26	2	503	2	FAM154A	9	18928550	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		18928550	122284881	16	27216											
TLL2	7093	broad.mit.edu	37	chr10	98129891	98129891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtaggcttccatgtagtcGtagccgcagtcggcctcctc	11	14	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	ENST00000357947.3	-	20	3069	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	948	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2842-2844)taC>taT		tolloid-like 2							72	62	66					10																	98129891		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98129891G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2844C>T	10.37:g.98129891G>A							p.Y948Y	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	20	3069	-		Colorectal(252;0.0846)	948			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.2844C>T	CCDS7449.1																																																																																				0.667	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			11	81	0	0	0	1	0	11	81					A	98129891	G	A	98129891	2	1	216	1	0	0	0	0	0	0	0	1	15943	1140	40	1		1	TLL2	10	98129891	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		98129891	37404856	17	27217											
INPP5F	22876	broad.mit.edu	37	chr10	121551532	121551532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggggagagggacggtcGgcccctctggcagaaggtac	17	11	1	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:121551532G>A	ENST00000361976.2	+	5	762	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	INPP5F_ENST00000369083.3_Missense_Mutation_p.R199Q|INPP5F_ENST00000369081.1_Missense_Mutation_p.R103Q	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGACGGTCGGCCCCTCTGG	0.493																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(595-597)cGg>cAg		inositol polyphosphate-5-phosphatase F							147	152	150					10																	121551532		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121551532G>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.596G>A	10.37:g.121551532G>A	ENSP00000354519:p.Arg199Gln					INPP5F_ENST00000369081.1_Missense_Mutation_p.R103Q|INPP5F_ENST00000369083.3_Missense_Mutation_p.R199Q	p.R199Q	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	762	+		Lung NSC(174;0.109)|all_lung(145;0.142)	199			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.596G>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	6.488	0.458312	0.12342	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.57107	0.42;0.42	5.68	2.59	0.31030	Synaptojanin, N-terminal (2);	0.510328	0.19940	N	0.102678	T	0.25382	0.0617	N	0.10916	0.065	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.16158	-1.0412	10	0.10902	T	0.67	-0.1054	5.1543	0.15027	0.1796:0.0:0.479:0.3415	.	199;199	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Q	199;199;103	ENSP00000354519:R199Q;ENSP00000358079:R199Q	ENSP00000354519:R199Q	R	+	2	0	INPP5F	121541522	0.123000	0.22298	0.003000	0.11579	0.932000	0.56968	2.894000	0.48640	0.752000	0.32923	-0.143000	0.13931	CGG		0.493	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		4	185	0	0	0	1	0	4	185					A	121551532	G	A	121551532	3	1	216	1	0	0	0	0	1	0	0	0	7758	1116	39	1	614	1	INPP5F	10	121551532	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	23421641	121551532	13983215	18	27218											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606186	1606186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccacaggagccacaAccccccttggatcccccaca	7	21	0	0	rs137999496		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:1606186A>G	ENST00000382171.2	-	1	327	c.294T>C	c.(292-294)ggT>ggC	p.G98G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAACCCCCCTTGG	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(292-294)ggT>ggC		keratin associated protein 5-1							35	51	46					11																	1606186		2176	4272	6448	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606186A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.294T>C	11.37:g.1606186A>G						KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.G98G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	327	-		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)	98			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.294T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		10	92	0	0	0	1	0	10	92					G	1606186	A	G	1606186	2	3	216	1	0	0	0	0	0	0	0	1	8558	30	2	3		3	KRTAP5-1	11	1606186	Silent	SNP	A	TCGA-FG-A60J-01A-11D-A289-08		1606186	133400330	19	27219											
OR5I1	10798	broad.mit.edu	37	chr11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtagaacactgagataAttttatcagtgtttggagaa	11	3	1	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	ENST00000301532.3	-	1	823	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	275					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(823-825)aTt>aCt		olfactory receptor, family 5, subfamily I, member 1							72	71	71					11																	55703053		2201	4295	6496	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703053A>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.824T>C	11.37:g.55703053A>G	ENSP00000301532:p.Ile275Thr						p.I275T	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	823	-			275					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.824T>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332049	0.41297	.	.	ENSG00000167825	ENST00000301532	T	0.00158	8.65	5.16	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.320352	0.22964	N	0.053509	T	0.00144	0.0004	L	0.39020	1.185	0.09310	N	1	P	0.36354	0.549	B	0.34536	0.185	T	0.31392	-0.9945	10	0.62326	D	0.03	.	9.2349	0.37459	0.913:0.0:0.087:0.0	.	275	Q13606	OR5I1_HUMAN	T	275	ENSP00000301532:I275T	ENSP00000301532:I275T	I	-	2	0	OR5I1	55459629	0.001000	0.12720	0.358000	0.25811	0.964000	0.63967	1.290000	0.33319	0.898000	0.36418	0.523000	0.50628	ATT		0.408	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		16	27	0	0	0	1	0	16	27					G	55703053	A	G	55703053	3	3	216	1	0	0	0	0	1	0	0	0	11164	101	4	3	123	3	OR5I1	11	55703053	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	54096867	55703053	79303463	20	27220											
LRRC55	219527	broad.mit.edu	37	chr11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagactctcgattccatggAcacagtcctcatgggctccc	8	15	2	1	rs548464910	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	ENST00000497933.1	+	1	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(79-81)gAc>gGc		leucine rich repeat containing 55							77	60	66					11																	56949447		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949447A>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.80A>G	11.37:g.56949447A>G	ENSP00000419542:p.Asp27Gly						p.D27G	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	227	+			0					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.80A>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344484	0.24339	.	.	ENSG00000183908	ENST00000497933	T	0.60920	0.15	5.19	1.39	0.22231	.	1.390910	0.04845	N	0.441357	T	0.34395	0.0896	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14282	-1.0478	7	0.16420	T	0.52	.	2.711	0.05174	0.4297:0.352:0.083:0.1353	.	.	.	.	G	27	ENSP00000419542:D27G	ENSP00000419542:D27G	D	+	2	0	LRRC55	56706023	0.002000	0.14202	0.007000	0.13788	0.048000	0.14542	-0.059000	0.11731	0.100000	0.17581	0.533000	0.62120	GAC		0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		11	58	0	0	0	1	0	11	58					G	56949447	A	G	56949447	3	3	216	1	0	0	0	0	1	0	0	0	9011	275	10	3	82	3	LRRC55	11	56949447	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	1246394	56949447	78057069	21	27221											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	9	11	0	0	rs559230605	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84	93	90					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"cerebello-oculo-renal syndrome 2", "Meckel syndrome, type 2"	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	7	27	0	0	0	1	0	7	27					G	61161357	T	G	61161357	5	3	216	1	0	0	0	0	0	0	1	0	16136	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	4211910	61161357	73845159	22	27222											
CASP1	834	broad.mit.edu	37	chr11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatctgcgctctaccAtctggctgctcaaatgaaaa	10	11	4	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	ENST00000533400.1	-	9	1178	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	381					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)	GCGCTCTACCATCTGGCTGCT	0.393																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1141-1143)gaT>gaG		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						80	80	80					11																	104897057		2202	4298	6500	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897057A>C	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.1143T>G	11.37:g.104897057A>C	ENSP00000433138:p.Asp381Glu					CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E	p.D381E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	9	1178	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	381					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1143T>G	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	9.573	1.121466	0.20877	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.42131	4.0;4.0;4.0;4.0;0.98;0.98;0.98;4.0;4.0;0.98;0.98	4.2	-7.78	0.01223	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	1.337980	0.04975	N	0.464539	T	0.27663	0.0680	M	0.64260	1.97	0.09310	N	1	B;B;B;B;B;B	0.17268	0.021;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20184	0.028;0.004;0.0;0.0;0.0;0.001	T	0.36529	-0.9744	10	0.08179	T	0.78	.	0.5261	0.00620	0.1943:0.2523:0.2745:0.2789	.	65;240;360;381;344;288	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	E	288;344;381;381;65;240;65;360;360;65;240	ENSP00000434250:D288E;ENSP00000432340:D344E;ENSP00000433138:D381E;ENSP00000410076:D381E;ENSP00000408446:D65E;ENSP00000403260:D240E;ENSP00000344132:D65E;ENSP00000376844:D360E;ENSP00000434779:D360E;ENSP00000434303:D65E;ENSP00000436875:D240E	ENSP00000344132:D65E	D	-	3	2	CASP1	104402267	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.369000	0.07533	-1.203000	0.02652	0.377000	0.23210	GAT		0.393	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		7	67	0	0	0	1	0	7	67					C	104897057	A	C	104897057	3	2	216	1	0	0	0	0	1	0	0	0	2668	214	8	5	75	5	CASP1	11	104897057	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	43735700	104897057	30109459	23	27223											
CLEC12A	160364	broad.mit.edu	37	chr12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccctctcatgtatggCgtccagcagccttgtttctg	9	14	2	0	rs141455664		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(118-120)Cgt>Tgt		C-type lectin domain family 12, member A		C	CYS/ARG,CYS/ARG,	0,4406		0,0,2203	207	192	197		148,118,	2.7	0	12	dbSNP_134	197	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,intron	CLEC12A	NM_001207010.1,NM_138337.5,NM_201623.3	180,180,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,	50/276,40/266,	10131591	2,13004	2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131591C>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.118C>T	12.37:g.10131591C>T	ENSP00000302804:p.Arg40Cys					CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C	p.R40C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			2	300	+			40					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.118C>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584844	0.28268	0.0	2.33E-4	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09163	4.41;3.01;4.43;3.88	4.58	2.69	0.31865	.	.	.	.	.	T	0.13586	0.0329	M	0.84219	2.685	0.19945	N	0.999945	B;B	0.33549	0.293;0.417	B;B	0.25759	0.029;0.063	T	0.15178	-1.0446	9	0.44086	T	0.13	.	6.7049	0.23244	0.0:0.718:0.1808:0.1011	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	C	50;40;40;40	ENSP00000347916:R50C;ENSP00000379764:R40C;ENSP00000302804:R40C;ENSP00000405244:R40C	ENSP00000302804:R40C	R	+	1	0	CLEC12A	10022858	0.025000	0.19082	0.018000	0.16275	0.008000	0.06430	0.136000	0.15974	0.591000	0.29711	0.650000	0.86243	CGT		0.433	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		39	62	0	0	0	1	0	39	62					T	10131591	C	T	10131591	3	4	216	1	0	0	0	0	1	0	0	0	3497	768	27	1	124	1	CLEC12A	12	10131591	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		10131591	123720304	24	27224											
ASCL1	429	broad.mit.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA													gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc					rs71438488|rs3832799|rs369257660		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1; AAA58376). {ECO:0000305}.	adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(148-150)gca>gGCAca		achaete-scute family bHLH transcription factor 1																																				SO:0001652	inframe_insertion	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352171_103352172insGCA	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.183_185dupGCA	12.37:g.103352178_103352180dupGCA	ENSP00000266744:p.Gln62_Gln62dup						p.50_50A>GT	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	708_709	+			50					A8K3C4|Q9BQ30	In_Frame_Ins	INS	ENST00000266744.3	37	c.149_150insGCA	CCDS31886.1																																																																																				0.757	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			5	3						5	3	---	---	---	---	GCA	103352172	-	GCA	103352171	7	5	216	1	0	1	1	0	0	0	0	0	1034	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08	93220580	103352171	30499724	25	27225											
SRRM4	84530	broad.mit.edu	37	chr12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgccggagagactcccCgagccacctggaggcccgga	14	15	0	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	ENST00000267260.4	+	12	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				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						AGAGACTCCCCGAGCCACCTG	0.632																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1501-1503)cCg>cTg		serine/arginine repetitive matrix 4							15	20	18					12																	119592158		1850	4084	5934	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592158C>T	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.1502C>T	12.37:g.119592158C>T	ENSP00000267260:p.Pro501Leu						p.P501L	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1890	+			501			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1502C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393584	0.96009	.	.	ENSG00000139767	ENST00000267260	T	0.77358	-1.09	5.34	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	L	0.59436	1.845	0.80722	D	1	P	0.37061	0.58	B	0.31245	0.126	T	0.70022	-0.4986	9	.	.	.	-17.5405	14.0005	0.64431	0.0:0.9267:0.0:0.0733	.	501	A7MD48	SRRM4_HUMAN	L	501	ENSP00000267260:P501L	.	P	+	2	0	SRRM4	118076541	1.000000	0.71417	0.911000	0.35937	0.965000	0.64279	7.296000	0.78790	1.256000	0.44068	0.655000	0.94253	CCG		0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		17	19	0	0	0	1	0	17	19					T	119592158	C	T	119592158	3	4	216	1	0	0	0	0	1	0	0	0	15170	652	23	1	1548	1	SRRM4	12	119592158	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	16239987	119592158	14259737	26	27226											
LATS2	26524	broad.mit.edu	37	chr13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgagtagctcttgatgcGtgactctctcttctcttcgt	10	11	4	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	ENST00000382592.4	-	4	2182	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	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)		CTCTTGATGCGTGACTCTCTC	0.512																																						ENST00000382592.4																			0				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						c.(1777-1779)Cgc>Tgc		large tumor suppressor kinase 2							260	263	262					13																	21562142		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562142G>A	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.1777C>T	13.37:g.21562142G>A	ENSP00000372035:p.Arg593Cys					LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	p.R593C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		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)	4	2182	-		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)	593						Missense_Mutation	SNP	ENST00000382592.4	37	c.1777C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353182	0.82132	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.56275	0.47;0.47	5.12	5.12	0.69794	.	0.090399	0.47093	D	0.000257	T	0.64853	0.2636	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.66436	-0.5924	10	0.72032	D	0.01	.	13.7424	0.62855	0.0:0.0:0.8464:0.1536	.	593	Q9NRM7	LATS2_HUMAN	C	593	ENSP00000372035:R593C;ENSP00000441817:R593C	ENSP00000372035:R593C	R	-	1	0	LATS2	20460142	1.000000	0.71417	0.933000	0.37362	0.951000	0.60555	5.930000	0.70104	2.691000	0.91804	0.549000	0.68633	CGC		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			18	103	0	0	0	1	0	18	103					A	21562142	G	A	21562142	3	1	216	1	0	0	0	0	1	0	0	0	8647	1145	40	1	1509	1	LATS2	13	21562142	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		21562142	93607736	27	27227											
EFS	10278	broad.mit.edu	37	chr14	23828664	23828664	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataaccaggcaggcggggTgggggtgggggcagaggccg	22	9	0	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	EFS_ENST00000429593.2_Silent_p.P172P|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.P248P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1021-1023)ccA>ccC		embryonal Fyn-associated substrate							32	33	33					14																	23828664		1974	3869	5843	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828664T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1023A>C	14.37:g.23828664T>G						EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	p.P341P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1630	-	all_cancers(95;7.12e-06)		341			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1023A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			10	61	0	0	0	1	0	10	61					G	23828664	T	G	23828664	2	3	216	1	0	0	0	0	0	0	0	1	4959	1683	59	5		5	EFS	14	23828664	Silent	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		23828664	83520876	28	27228											
SDCCAG1	9147	broad.mit.edu	37	chr14	50269393	50269393	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaagagtaccttaaaAaggaagctaaaccccatcat	7	8	1	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:50269393A>C	ENST00000298310.5	-	21	2417	c.1968T>G	c.(1966-1968)ctT>ctG	p.L656L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Silent_p.L614L|NEMF_ENST00000546046.1_Silent_p.L635L			O60524	NEMF_HUMAN	nuclear export mediator factor	656					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						GTACCTTAAAAAGGAAGCTAA	0.318																																						ENST00000298310.5																			0				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						c.(1966-1968)ctT>ctG		nuclear export mediator factor							54	55	55					14																	50269393		2203	4300	6503	SO:0001819	synonymous_variant	9147					cytoplasm|nucleus		g.chr14:50269393A>C	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.1968T>G	14.37:g.50269393A>C						NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Silent_p.L635L|NEMF_ENST00000545773.1_Silent_p.L614L	p.L656L			O60524	NEMF_HUMAN			21	2417	-			656					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	c.1968T>G	CCDS9694.1																																																																																				0.318	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		6	49	0	0	0	1	0	6	49					C	50269393	A	C	50269393	2	2	216	1	0	0	0	0	0	0	0	1	13957	1	1	5		5	SDCCAG1	14	50269393	Silent	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	26440729	50269393	57080147	29	27229											
SYNE2	23224	broad.mit.edu	37	chr14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgttccccctgcgTccagcaccccttataaacca	4	19	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	ENST00000344113.4	+	107	19659	c.19447T>C	c.(19447-19449)Tcc>Ccc	p.S6483P	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2868P|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P|SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6483					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)		TCCCCCTGCGTCCAGCACCCC	0.498																																						ENST00000357395.3																			0				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						c.(8602-8604)Tcc>Ccc		spectrin repeat containing, nuclear envelope 2							140	120	127					14																	64683079		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64683079T>C	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.19447T>C	14.37:g.64683079T>C	ENSP00000341781:p.Ser6483Pro					SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6483P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P	p.S2868P			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	108	19746	+			6483					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8602T>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	6.825	0.521373	0.13005	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.57907	0.77;4.05;0.76;0.37;4.12;4.05;3.71;3.23;2.92;2.64	4.99	-1.18	0.09617	.	0.657623	0.12411	N	0.471297	T	0.52837	0.1759	L	0.51422	1.61	0.42139	D	0.991503	D;B;D;D;B;P;P;D	0.59357	0.974;0.082;0.985;0.973;0.005;0.828;0.612;0.973	P;B;P;P;B;B;B;P	0.56916	0.548;0.015;0.809;0.735;0.013;0.299;0.222;0.735	T	0.54754	-0.8246	10	0.40728	T	0.16	.	4.5854	0.12280	0.2939:0.0:0.3658:0.3403	.	140;2868;14;140;871;6425;6483;6506	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	P	6506;2868;6483;6425;6431;3140;2868;361;266;140;14	ENSP00000350719:S6506P;ENSP00000349969:S2868P;ENSP00000341781:S6483P;ENSP00000452570:S6425P;ENSP00000450831:S3140P;ENSP00000378249:S2868P;ENSP00000451009:S361P;ENSP00000450605:S266P;ENSP00000391937:S140P;ENSP00000396794:S14P	ENSP00000261678:S6431P	S	+	1	0	SYNE2	63752832	0.994000	0.37717	0.226000	0.23910	0.366000	0.29705	0.820000	0.27323	-0.064000	0.13043	0.533000	0.62120	TCC		0.498	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		34	46	0	0	0	1	0	34	46					C	64683079	T	C	64683079	3	2	216	1	0	0	0	0	1	0	0	0	15443	1667	58	3	19942	3	SYNE2	14	64683079	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	14413686	64683079	42666461	30	27230											
CHRNA5	1138	broad.mit.edu	37	chr15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaggaaactgagagtgGtagtggaccaaaatcttcta	12	5	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	ENST00000299565.5	+	5	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	383					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|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)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	ACTGAGAGTGGTAGTGGACCA	0.438																																						ENST00000299565.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						c.(1147-1149)gGt>gAt		cholinergic receptor, nicotinic, alpha 5 (neuronal)							94	88	90					15																	78882881		2196	4293	6489	SO:0001583	missense	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78882881G>A		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1148G>A	15.37:g.78882881G>A	ENSP00000299565:p.Gly383Asp					RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	p.G383D	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN			5	1348	+			383					Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	c.1148G>A	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021666	0.19433	.	.	ENSG00000169684	ENST00000299565	T	0.70282	-0.47	4.79	-6.89	0.01660	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.556823	0.18707	N	0.133417	T	0.38692	0.1050	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41106	-0.9527	10	0.11182	T	0.66	.	0.8921	0.01256	0.1899:0.2398:0.2814:0.289	.	383	P30532	ACHA5_HUMAN	D	383	ENSP00000299565:G383D	ENSP00000299565:G383D	G	+	2	0	CHRNA5	76669936	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.359000	0.07632	-0.989000	0.03485	0.558000	0.71614	GGT		0.438	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			32	56	0	0	0	1	0	32	56					A	78882881	G	A	78882881	3	1	216	1	0	0	0	0	1	0	0	0	3386	1261	44	2	1166	2	CHRNA5	15	78882881	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		78882881	23648511	31	27231											
WDR93	56964	broad.mit.edu	37	chr15	90265288	90265288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttttccttgttttaggaTgcaaatgttagttttaaagg	9	5	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:90265288T>C	ENST00000268130.7	+	8	899	c.798T>C	c.(796-798)gaT>gaC	p.D266D	WDR93_ENST00000444934.2_5'UTR|WDR93_ENST00000560294.1_Silent_p.D266D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	266					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			tgttttAGGATGCAAATGTTA	0.318																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(796-798)gaT>gaC		WD repeat domain 93							98	91	93					15																	90265288		2199	4297	6496	SO:0001819	synonymous_variant	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90265288T>C		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.798T>C	15.37:g.90265288T>C						WDR93_ENST00000444934.2_5'UTR|WDR93_ENST00000560294.1_Silent_p.D266D	p.D266D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		8	899	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		266					Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	c.798T>C	CCDS32326.1																																																																																				0.318	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		3	46	0	0	0	1	0	3	46					C	90265288	T	C	90265288	2	2	216	1	0	0	0	0	0	0	0	1	17337	1461	51	3		3	WDR93	15	90265288	Silent	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	11382407	90265288	12266104	32	27232											
TMC5	79838	broad.mit.edu	37	chr16	19451785	19451785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgattttgcaggctccagcaGcagtggaaactatgcaggct	12	9	0	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr16:19451785G>T	ENST00000396229.2	+	3	1174	c.425G>T	c.(424-426)aGc>aTc	p.S142I	TMC5_ENST00000542583.2_Missense_Mutation_p.S142I|TMC5_ENST00000381414.4_Missense_Mutation_p.S142I|TMC5_ENST00000541464.1_Missense_Mutation_p.S142I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	142	Poly-Ser.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCCAGCAGCAGTGGAAAC	0.498																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(424-426)aGc>aTc		transmembrane channel-like 5							199	197	198					16																	19451785		1964	4161	6125	SO:0001583	missense	79838					integral to membrane		g.chr16:19451785G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.425G>T	16.37:g.19451785G>T	ENSP00000379531:p.Ser142Ile					TMC5_ENST00000542583.2_Missense_Mutation_p.S142I|TMC5_ENST00000541464.1_Missense_Mutation_p.S142I|TMC5_ENST00000381414.4_Missense_Mutation_p.S142I	p.S142I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	1174	+			142			Poly-Ser.		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.425G>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	5.453	0.268703	0.10349	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.68903	-0.26;-0.13;-0.36;-0.36	5.13	-0.822	0.10819	.	208.034000	0.00166	N	0.000000	T	0.63698	0.2533	M	0.76328	2.33	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.14023	0.01;0.002;0.01	T	0.44467	-0.9326	10	0.72032	D	0.01	-7.6468	0.7911	0.01057	0.291:0.1628:0.3793:0.1669	.	142;142;142	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	I	142	ENSP00000441227:S142I;ENSP00000370822:S142I;ENSP00000379531:S142I;ENSP00000446274:S142I	ENSP00000370822:S142I	S	+	2	0	TMC5	19359286	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.171000	0.16685	0.034000	0.15491	0.591000	0.81541	AGC		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		5	324	1	0	0.014758	1	0.014758	5	324					T	19451785	G	T	19451785	3	4	216	1	0	0	0	0	1	0	0	0	15985	971	34	4	427	4	TMC5	16	19451785	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		19451785	70902968	33	27233											
ABR	29	broad.mit.edu	37	chr17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacctcctccacacactGccggacgatgtagggcacct	8	18	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	ENST00000302538.5	-	19	2142	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*|ABR_ENST00000544583.2_Nonsense_Mutation_p.Q620*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	666	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			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)		TCCACACACTGCCGGACGATG	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				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						c.(1858-1860)Cag>Tag		active BCR-related							196	149	165					17																	915191		2203	4300	6503	SO:0001587	stop_gained	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915191G>A	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.1996C>T	17.37:g.915191G>A	ENSP00000303909:p.Gln666*					ABR_ENST00000302538.5_Nonsense_Mutation_p.Q666*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*	p.Q620*	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2457	-			666					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Nonsense_Mutation	SNP	ENST00000302538.5	37	c.1858C>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	41	8.793993	0.98956	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	.	.	.	5.97	5.97	0.96955	.	0.061224	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	.	.	.	X	666;620;629;448;117	.	ENSP00000291107:Q629X	Q	-	1	0	ABR	861941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.851000	0.98039	0.644000	0.83932	CAG		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			48	73	0	0	0	1	0	48	73					A	915191	G	A	915191	4	1	216	1	0	0	0	0	0	1	0	0	99	1328	46	2	603	2	ABR	17	915191	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		915191	80280019	34	27234											
ZZEF1	23140	broad.mit.edu	37	chr17	4046085	4046085	+	Frame_Shift_Del	DEL	G	G	-													ggagccgcgacgcccgggccGggggtcgtgcccgagaccgc							TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4046085delG	ENST00000381638.2	-	1	229	c.105delC	c.(103-105)cccfs	p.P35fs	CYB5D2_ENST00000301391.3_5'Flank|CYB5D2_ENST00000573984.1_5'Flank|ZZEF1_ENST00000574474.1_5'UTR|CYB5D2_ENST00000575251.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	35							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCCCGGGCCGGGGGTCGTGC	0.751																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(103-105)ccfs		zinc finger, ZZ-type with EF-hand domain 1							2	2	2					17																	4046085		1368	2706	4074	SO:0001589	frameshift_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4046085delG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.105delC	17.37:g.4046085delG	ENSP00000371051:p.Pro35fs					ZZEF1_ENST00000574474.1_5'UTR	p.P35fs	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			1	229	-			35					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	37	c.105delC	CCDS11043.1																																																																																				0.751	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		2	4						2	4	---	---	---	---	-	4046085	G	-	4046085	7	5	216	1	0	1	0	1	0	0	0	0	18252	1103	39	0	9000	0	ZZEF1	17	4046085	Frame_Shift_Del	DEL	G	TCGA-FG-A60J-01A-11D-A289-08	3130894	4046085	77149125	35	27235											
ARRB2	409	broad.mit.edu	37	chr17	4619834	4619834	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgcccaacccaccccgGccccccacccgcctgcagga	9	24	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R|ARRB2_ENST00000575877.1_Silent_p.R96R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(286-288)cgG>cgC		arrestin, beta 2							13	13	13					17																	4619834		2198	4287	6485	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619834G>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"arrestin 3"	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.288G>C	17.37:g.4619834G>C						ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R	p.R96R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	521	+			96					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.288G>C	CCDS11050.1																																																																																				0.672	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		7	20	0	0	0	1	0	7	20					C	4619834	G	C	4619834	2	2	216	1	0	0	0	0	0	0	0	1	981	1190	42	4		4	ARRB2	17	4619834	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	573749	4619834	76575376	36	27236											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577157	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcccagtagattaccacTactcaggataggaaaagaga	9	10	1	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	ENST00000269305.4	-	8	972		c.e8-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site	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						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.?(11)|p.0?(8)|p.E258fs*71(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)	AGATTACCACTACTCAGGATA	0.512		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		20	Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.E258fs*71(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|urinary_tract(1)|oesophagus(1)|ovary(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						c.e8-2	Other conserved DNA damage response genes	tumor protein p53							38	35	36					17																	7577157		2203	4299	6502	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577157T>G	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.783-2A>C	17.37:g.7577157T>G		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)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948067	0.34377	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4575	0.50191	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517882	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.431000	0.66507	2.029000	0.59856	0.379000	0.24179	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	13	0	0	0	1	0	11	13					G	7577157	T	G	7577157	5	3	216	1	0	0	0	0	0	0	1	0	16378	1536	53	5	505	5	TP53	17	7577157	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2957323	7577157	73618053	37	27237											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	14	4	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(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	GRCh37	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126	100	109					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	36	0	0	0	1	0	40	36					C	7577574	T	C	7577574	3	2	216	1	0	0	0	0	1	0	0	0	16378	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	417	7577574	73617636	38	27238											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatggccgagatgcgcgCgggggcctcccgcgtgacga	18	13	0	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	ENST00000284110.1	-	2	1476	c.679G>A	c.(679-681)Gcg>Acg	p.A227T	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	227					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)		GAGATGCGCGCGGGGGCCTCC	0.627																																						ENST00000284110.1																			0				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						c.(679-681)Gcg>Acg		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							75	95	89					17																	13400056		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400056C>T	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.679G>A	17.37:g.13400056C>T	ENSP00000284110:p.Ala227Thr					HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	p.A227T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1476	-		all_lung(20;0.114)	227					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.679G>A	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431902	0.62844	.	.	ENSG00000153976	ENST00000284110	T	0.42900	0.96	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.069421	0.56097	U	0.000027	T	0.42291	0.1196	L	0.58428	1.81	0.58432	D	0.999995	B	0.32604	0.377	B	0.27076	0.076	T	0.33317	-0.9873	10	0.42905	T	0.14	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	227	Q9Y663	HS3SA_HUMAN	T	227	ENSP00000284110:A227T	ENSP00000284110:A227T	A	-	1	0	HS3ST3A1	13340781	0.998000	0.40836	0.998000	0.56505	0.985000	0.73830	3.758000	0.55220	2.873000	0.98535	0.563000	0.77884	GCG		0.627	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		51	162	0	0	0	1	0	51	162					T	13400056	C	T	13400056	3	4	216	1	0	0	0	0	1	0	0	0	7365	768	27	1	545	1	HS3ST3A1	17	13400056	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	5822482	13400056	67795154	39	27239											
TRIM16	10626	broad.mit.edu	37	chr17	15532459	15532459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttgcggttctcctcctGcagccggagatacttgtgtg	12	12	1	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:15532459G>A	ENST00000578237.1	-	11	2020	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|RP11-385D13.1_ENST00000455584.2_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*			O95361	TRI16_HUMAN	tripartite motif containing 16	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		TTCTCCTCCTGCAGCCGGAGA	0.602																																						ENST00000455584.2																			0											c.(1165-1167)Cag>Tag									57	54	55					17																	15532459		2203	4300	6503	SO:0001587	stop_gained	0							g.chr17:15532459G>A	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.1165C>T	17.37:g.15532459G>A	ENSP00000463188:p.Gln389*					TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|TRIM16_ENST00000578237.1_Nonsense_Mutation_p.Q389*	p.Q389*							6	1208	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Nonsense_Mutation	SNP	ENST00000578237.1	37	c.1165C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	40	8.446982	0.98815	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	.	.	.	4.53	4.53	0.55603	.	0.250531	0.34652	N	0.003781	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	8.9042	0.35512	0.1031:0.0:0.8969:0.0	.	.	.	.	X	389;259	.	ENSP00000338989:Q389X	Q	-	1	0	TRIM16	15473184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.851000	0.48302	2.232000	0.73038	0.650000	0.86243	CAG		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		9	69	0	0	0	1	0	9	69					A	15532459	G	A	15532459	4	1	216	1	0	0	0	0	0	1	0	0	16488	1328	46	2	533	2	TRIM16	17	15532459	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	2132403	15532459	65662751	40	27240											
CD300LG	146894	broad.mit.edu	37	chr17	41930300	41930300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctgctgtcctccctccCcttctcccaccttccagcct	4	23	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:41930300C>T	ENST00000317310.4	+	3	441	c.400C>T	c.(400-402)Cct>Tct	p.P134S	CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P134S|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	134					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTCCCTCCCCTTCTCCCAC	0.587																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(400-402)Cct>Tct		CD300 molecule-like family member g							140	132	135					17																	41930300		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41930300C>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.400C>T	17.37:g.41930300C>T	ENSP00000321005:p.Pro134Ser					CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P134S|CD300LG_ENST00000293396.8_Intron	p.P134S	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	3	441	+		Breast(137;0.0199)	134					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.400C>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708742	0.30322	.	.	ENSG00000161649	ENST00000317310;ENST00000539718	T;T	0.06142	3.36;3.34	3.04	3.04	0.35103	.	0.000000	0.38837	N	0.001556	T	0.09512	0.0234	N	0.24115	0.695	0.35211	D	0.775194	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.15549	-1.0433	10	0.07030	T	0.85	.	9.8072	0.40801	0.0:1.0:0.0:0.0	.	134;134	F5H7P9;Q6UXG3	.;CLM9_HUMAN	S	134	ENSP00000321005:P134S;ENSP00000442368:P134S	ENSP00000321005:P134S	P	+	1	0	CD300LG	39285826	0.987000	0.35691	0.858000	0.33744	0.664000	0.39144	1.631000	0.37092	2.015000	0.59207	0.462000	0.41574	CCT		0.587	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		4	226	0	0	0	1	0	4	226					T	41930300	C	T	41930300	3	4	216	1	0	0	0	0	1	0	0	0	3002	623	22	2	410	2	CD300LG	17	41930300	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	26397841	41930300	39264910	41	27241											
SSTR3	6753	broad.mit.edu	37	chr22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggccagtaggacagggCgttctgggcggccaggaagg	20	8	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	ENST00000328544.3	-	2	846	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TAGGACAGGGCGTTCTGGGCG	0.622																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(313-315)Gcc>Acc		somatostatin receptor 3							78	72	74					22																	37603530		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603530C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.313G>A	22.37:g.37603530C>T	ENSP00000330138:p.Ala105Thr					SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	846	-			105					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.313G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529900	0.85706	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37752	1.18;1.18	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.069987	0.64402	D	0.000005	T	0.48714	0.1515	L	0.54908	1.71	0.58432	D	0.999999	D	0.56968	0.978	P	0.54210	0.745	T	0.16100	-1.0414	10	0.18710	T	0.47	.	20.1238	0.97972	0.0:1.0:0.0:0.0	.	105	P32745	SSR3_HUMAN	T	105	ENSP00000330138:A105T;ENSP00000384904:A105T	ENSP00000330138:A105T	A	-	1	0	SSTR3	35933476	0.983000	0.35010	0.986000	0.45419	0.904000	0.53231	2.618000	0.46393	2.764000	0.94973	0.557000	0.71058	GCC		0.622	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			52	73	0	0	0	1	0	52	73					T	37603530	C	T	37603530	3	4	216	1	0	0	0	0	1	0	0	0	15198	768	27	1	947	1	SSTR3	22	37603530	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		37603530	13701036	42	27242											
MPPED1	758	broad.mit.edu	37	chr22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcttcctggactgggtcCccaagaagatgcagcgggtg	15	11	0	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	ENST00000417669.2	+	6	1210	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	256							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(766-768)Ccc>Acc		metallophosphoesterase domain containing 1							64	76	72					22																	43898541		2177	4293	6470	SO:0001583	missense	758						hydrolase activity	g.chr22:43898541C>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.766C>A	22.37:g.43898541C>A	ENSP00000388137:p.Pro256Thr					MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T	p.P256T			O15442	MPPD1_HUMAN			6	1210	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	256					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.766C>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	C	7.915	0.737425	0.15574	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.27	4.27	0.50696	Metallophosphoesterase domain (1);	.	.	.	.	T	0.27832	0.0685	N	0.10733	0.035	0.80722	D	1	P;B	0.45634	0.863;0.021	B;B	0.43658	0.426;0.011	T	0.08513	-1.0718	9	0.20046	T	0.44	.	17.1345	0.86735	0.0:1.0:0.0:0.0	.	289;256	B7Z2S9;O15442	.;MPPD1_HUMAN	T	256;256;234;150;98;256;289	ENSP00000388137:P256T;ENSP00000400686:P256T;ENSP00000388245:P150T;ENSP00000390379:P98T;ENSP00000444532:P256T;ENSP00000438335:P289T	ENSP00000388245:P150T	P	+	1	0	MPPED1	42229870	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.090000	0.76916	2.126000	0.65437	0.399000	0.26434	CCC		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		16	137	1	0	1.37285e-15	1	1.45244e-15	16	137					A	43898541	C	A	43898541	3	1	216	1	0	0	0	0	1	0	0	0	9741	623	22	4	664	4	MPPED1	22	43898541	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	6295011	43898541	7406025	43	27243											
ZNF81	347344	broad.mit.edu	37	chrX	47774744	47774744	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacccagaactcttcttaTagtcaccacgaaaatacaca	3	12	3	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	ENST00000376954.1	+	6	1067	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_ENST00000338637.7_Silent_p.Y233Y			P51508	ZNF81_HUMAN	zinc finger protein 81	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(697-699)taT>taC		zinc finger protein 81							60	58	59					X																	47774744		1902	4110	6012	SO:0001819	synonymous_variant	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774744T>C	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.699T>C	X.37:g.47774744T>C						ZNF81_ENST00000338637.7_Silent_p.Y233Y	p.Y233Y			P51508	ZNF81_HUMAN			6	1067	+		all_lung(315;0.0973)	233					Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	c.699T>C	CCDS43933.1																																																																																				0.363	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		9	79	0	0	0	1	0	9	79					C	47774744	T	C	47774744	2	2	216	1	0	0	0	0	0	0	0	1	18171	1413	49	3		3	ZNF81	23	47774744	Silent	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		47774744	107495816	44	27244											
GRIPAP1	56850	broad.mit.edu	37	chrX	48831681	48831681	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggtctctcaggacgctgccCagcccgctgcggtctgtgtg	14	14	3	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	ENST00000376441.1	-	25	2353	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376425.3_Silent_p.L742L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	773						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607																																						ENST00000376441.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(2317-2319)ctG>ctC		GRIP1 associated protein 1							46	37	40					X																	48831681		2203	4300	6503	SO:0001819	synonymous_variant	56850					early endosome		g.chrX:48831681C>G	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2319G>C	X.37:g.48831681C>G						GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000376425.3_Silent_p.L742L	p.L773L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN			25	2353	-			773					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	c.2319G>C	CCDS35248.1																																																																																				0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		22	33	0	0	0	1	0	22	33					G	48831681	C	G	48831681	2	3	216	1	0	0	0	0	0	0	0	1	6789	581	21	4		4	GRIPAP1	23	48831681	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	1056937	48831681	106438879	45	27245											
AR	367	broad.mit.edu	37	chrX	66863188	66863188	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtggagatgaagcttctggGtgtcactatggagctctcac	13	8	3	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:66863188G>C	ENST00000374690.3	+	2	2231	c.1707G>C	c.(1705-1707)ggG>ggC	p.G569G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Silent_p.G37G|AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	568	Interaction with LPXN.				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)	AAGCTTCTGGGTGTCACTATG	0.493									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				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						c.(1705-1707)ggG>ggC		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						112	91	98					X																	66863188		2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66863188G>C	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.1707G>C	X.37:g.66863188G>C						AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G|AR_ENST00000396043.2_Silent_p.G37G|AR_ENST00000513847.1_3'UTR	p.G569G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			2	2231	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	568					A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.1707G>C	CCDS14387.1																																																																																				0.493	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	43	0	0	0	1	0	5	43					C	66863188	G	C	66863188	2	2	216	1	0	0	0	0	0	0	0	1	836	1248	44	4		4	AR	23	66863188	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	18031507	66863188	88407372	46	27246											
OGT	8473	broad.mit.edu	37	chrX	70776956	70776956	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctggcttccattcataagGtactactgtttattataata	5	7	2	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	ENST00000373719.3	+	10	1537		c.e10+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						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)					CATTCATAAGGTACTACTGTT	0.368																																						ENST00000373719.3																			0				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						c.e10+1		O-linked N-acetylglucosamine (GlcNAc) transferase							67	55	59					X																	70776956		2203	4300	6503	SO:0001630	splice_region_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70776956G>T	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.1320+1G>T	X.37:g.70776956G>T						OGT_ENST00000373701.3_Splice_Site		NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			10	1537	+	Renal(35;0.156)							Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Splice_Site	SNP	ENST00000373719.3	37		CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635375	0.47049	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4676	0.90761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGT	70693681	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	9.582000	0.98214	2.557000	0.86248	0.594000	0.82650	.		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	Intron	4	31	1	0	5.9392e-07	1	6.1065e-07	4	31					T	70776956	G	T	70776956	5	4	216	1	0	0	0	0	0	0	1	0	10847	1275	44	4	1359	4	OGT	23	70776956	Splice_Site	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	3913768	70776956	84493604	47	27247											
RGAG4	340526	broad.mit.edu	37	chrX	71350423	71350423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaagggaagatgatatttCgaactccagggagcgggata	13	6	0	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	ENST00000545866.1	-	1	1335	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R323Q	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(967-969)cGa>cAa		retrotransposon gag domain containing 4							96	90	92					X																	71350423		1926	4133	6059	SO:0001583	missense	340526							g.chrX:71350423C>T	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.968G>A	X.37:g.71350423C>T	ENSP00000441366:p.Arg323Gln					RGAG4_ENST00000479991.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron	p.R323Q			Q5HYW3	RGAG4_HUMAN			1	1335	-	Renal(35;0.156)		323					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.968G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024165	0.54683	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.11712	2.75;2.75	4.13	1.21	0.21127	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.44907	-0.9297	8	.	.	.	.	2.9195	0.05764	0.2165:0.5335:0.0:0.25	.	323	Q5HYW3	RGAG4_HUMAN	Q	323	ENSP00000441366:R323Q;ENSP00000418667:R323Q	.	R	-	2	0	RGAG4	71267148	0.000000	0.05858	0.012000	0.15200	0.866000	0.49608	-0.164000	0.09983	0.109000	0.17891	0.600000	0.82982	CGA		0.493	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		59	111	0	0	0	1	0	59	111					T	71350423	C	T	71350423	3	4	216	1	0	0	0	0	1	0	0	0	13275	884	31	1	745	1	RGAG4	23	71350423	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	573467	71350423	83920137	48	27248											
CSTF2	1478	broad.mit.edu	37	chrX	100077401	100077401	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaagaacaaagaagAgctgaagagtgagtacaaat	11	4	0	7			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	ENST00000372972.2	+	3	315	c.299A>T	c.(298-300)gAg>gTg	p.E100V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.E100V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	100					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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(298-300)gAg>gTg		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							75	68	70					X																	100077401		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100077401A>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.299A>T	X.37:g.100077401A>T	ENSP00000362063:p.Glu100Val					CSTF2_ENST00000372972.2_Missense_Mutation_p.E100V|CSTF2_ENST00000486615.1_Intron	p.E100V			P33240	CSTF2_HUMAN			3	321	+			100					Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.299A>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499920	0.85176	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.17213	2.45;2.45;2.29	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.62209	1.925	0.80722	D	1	B;D;P	0.61697	0.129;0.99;0.777	B;D;P	0.68943	0.273;0.961;0.539	T	0.18241	-1.0343	10	0.72032	D	0.01	-11.9262	14.2464	0.65990	1.0:0.0:0.0:0.0	.	100;100;100	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	100;100;100;91	ENSP00000387996:E100V;ENSP00000362063:E100V;ENSP00000415705:E91V	ENSP00000362063:E100V	E	+	2	0	CSTF2	99964057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.658000	0.91110	1.742000	0.51746	0.486000	0.48141	GAG		0.418	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		18	42	0	0	0	1	0	18	42					T	100077401	A	T	100077401	3	4	216	1	0	0	0	0	1	0	0	0	3984	304	11	5	309	5	CSTF2	23	100077401	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	28726978	100077401	55193159	49	27249											
DRP2	1821	broad.mit.edu	37	chrX	100490939	100490939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaacgggtctgttggtGcctctggacccctggaacca	13	11	2	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	ENST00000395209.3	+	4	735	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_ENST00000402866.1_Missense_Mutation_p.A70T|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T|DRP2_ENST00000541709.1_5'UTR	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	70					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(208-210)Gcc>Acc		dystrophin related protein 2							179	144	156					X																	100490939		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100490939G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.208G>A	X.37:g.100490939G>A	ENSP00000378635:p.Ala70Thr					DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T	p.A70T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			4	735	+			70					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.208G>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841892	0.51057	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.05786	3.39;3.39;3.39	6.08	4.33	0.51752	.	0.106984	0.41097	N	0.000957	T	0.05868	0.0153	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34775	-0.9815	10	0.20046	T	0.44	-2.0271	10.6803	0.45811	0.1508:0.0:0.8492:0.0	.	70	Q13474	DRP2_HUMAN	T	70	ENSP00000385038:A70T;ENSP00000378635:A70T;ENSP00000441051:A70T	ENSP00000362007:A70T	A	+	1	0	DRP2	100377595	1.000000	0.71417	0.577000	0.28562	0.471000	0.32888	3.245000	0.51407	0.692000	0.31613	-0.191000	0.12829	GCC		0.517	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		95	185	0	0	0	1	0	95	185					A	100490939	G	A	100490939	3	1	216	1	0	0	0	0	1	0	0	0	4764	1319	46	2	214	2	DRP2	23	100490939	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	413538	100490939	54779621	50	27250											
SERPINA7	6906	broad.mit.edu	37	chrX	105280487	105280487	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgaggtcttgaattAgacccacaactttccctttg	8	10	1	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	ENST00000327674.4	-	1	898	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	188					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCTTGAATTAGACCCACAAC	0.413																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(562-564)cTa>cGa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						163	144	151					X																	105280487		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280487A>C	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.563T>G	X.37:g.105280487A>C	ENSP00000329374:p.Leu188Arg					SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R	p.L188R			P05543	THBG_HUMAN			1	898	-			188					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.563T>G	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	8.101	0.776713	0.16120	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.87966	-2.32;-2.32	4.7	4.7	0.59300	Serpin domain (3);	0.000000	0.56097	D	0.000023	D	0.95268	0.8465	H	0.96604	3.85	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89423	0.3711	10	0.87932	D	0	.	11.2413	0.48970	1.0:0.0:0.0:0.0	.	188	P05543	THBG_HUMAN	R	188	ENSP00000329374:L188R;ENSP00000361644:L188R	ENSP00000329374:L188R	L	-	2	0	SERPINA7	105167143	0.523000	0.26274	0.008000	0.14137	0.080000	0.17528	3.726000	0.54977	1.855000	0.53841	0.481000	0.45027	CTA		0.413	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		55	108	0	0	0	1	0	55	108					C	105280487	A	C	105280487	3	2	216	1	0	0	0	0	1	0	0	0	14094	420	15	5	700	5	SERPINA7	23	105280487	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	4789548	105280487	49990073	51	27251											
DOCK11	139818	broad.mit.edu	37	chrX	117773444	117773444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttcggaatagaccgaaaaTcgcaaaccatgcctgctctt	7	12	1	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	ENST00000276202.7	+	38	4111	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1350T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1350					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						AGACCGAAAATCGCAAACCAT	0.413																																						ENST00000276204.6																			0				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						c.(4048-4050)Tcg>Acg		dedicator of cytokinesis 11							104	89	94					X																	117773444		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117773444T>A	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.4048T>A	X.37:g.117773444T>A	ENSP00000276202:p.Ser1350Thr					DOCK11_ENST00000276202.7_Missense_Mutation_p.S1350T	p.S1350T			Q5JSL3	DOC11_HUMAN			38	4122	+			1350					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4048T>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629348	0.67015	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18810	2.19;2.19	5.26	5.26	0.73747	.	0.222223	0.39274	N	0.001408	T	0.25754	0.0627	M	0.69463	2.115	0.54753	D	0.999984	B;B	0.31989	0.35;0.35	B;B	0.31686	0.134;0.134	T	0.03086	-1.1074	10	0.41790	T	0.15	-5.5694	14.5313	0.67929	0.0:0.0:0.0:1.0	.	1350;1350	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1350	ENSP00000276204:S1350T;ENSP00000276202:S1350T	ENSP00000276202:S1350T	S	+	1	0	DOCK11	117657472	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.388000	0.79795	1.880000	0.54463	0.381000	0.24937	TCG		0.413	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		14	90	0	0	0	1	0	14	90					A	117773444	T	A	117773444	3	1	216	1	0	0	0	0	1	0	0	0	4686	1435	50	5	4198	5	DOCK11	23	117773444	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	12492957	117773444	37497116	52	27252											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217833	130217833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccggtcaggctgcgggcCgtcgtcggggaaacgtggtg	18	12	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:130217833C>T	ENST00000276211.5	+	4	790	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	149	Arg-rich.				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						GGCTGCGGGCCGTCGTCGGGG	0.622																																						ENST00000276211.5																			0				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						c.(445-447)Cgt>Tgt		Rho GTPase activating protein 36							99	95	96					X																	130217833		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217833C>T		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.445C>T	X.37:g.130217833C>T	ENSP00000276211:p.Arg149Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C	p.R149C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	790	+			149			Arg-rich.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.445C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449878	0.43531	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.15834	2.82;2.82;2.83;2.39	4.3	3.43	0.39272	.	0.151822	0.32081	N	0.006620	T	0.23451	0.0567	N	0.19112	0.55	0.38330	D	0.943772	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.982	T	0.08576	-1.0715	10	0.72032	D	0.01	.	9.086	0.36581	0.0:0.7823:0.2177:0.0	.	118;137;149	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	149;137;101;118;13	ENSP00000276211:R149C;ENSP00000359960:R137C;ENSP00000408515:R118C;ENSP00000359959:R13C	ENSP00000276211:R149C	R	+	1	0	ARHGAP36	130045514	0.561000	0.26578	0.969000	0.41365	0.157000	0.22087	0.451000	0.21779	1.141000	0.42275	0.600000	0.82982	CGT		0.622	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		15	240	0	0	0	1	0	15	240					T	130217833	C	T	130217833	3	4	216	1	0	0	0	0	1	0	0	0	883	652	23	1	455	1	ARHGAP36	23	130217833	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	12444389	130217833	25052727	53	27253											
GPR112	139378	broad.mit.edu	37	chrX	135428469	135428469	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctccattttcaacaatgctGgaagtgacagacgaatcagc	8	10	3	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	ENST00000394143.1	+	6	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L|GPR112_ENST00000287534.4_Silent_p.L805L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	868					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(2602-2604)ctG>ctC		G protein-coupled receptor 112							139	132	134					X																	135428469		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428469G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2604G>C	X.37:g.135428469G>C						GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L	p.L868L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	2895	+	Acute lymphoblastic leukemia(192;0.000127)		868					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.2604G>C	CCDS35409.1																																																																																				0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			21	225	0	0	0	1	0	21	225					C	135428469	G	C	135428469	2	2	216	1	0	0	0	0	0	0	0	1	6629	1335	47	4		4	GPR112	23	135428469	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	5210636	135428469	19842091	54	27254											
GABRA3	2556	broad.mit.edu	37	chrX	151336930	151336930	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgggagcagcgcccttggAgatggtggaaaattcagtgt	15	7	1	1	rs200491744		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:151336930A>T	ENST00000370314.4	-	10	1487	c.1249T>A	c.(1249-1251)Tcc>Acc	p.S417T	GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCGCCCTTGGAGATGGTGGAA	0.552																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1249-1251)Tcc>Acc		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						290	237	255					X																	151336930		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336930A>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1249T>A	X.37:g.151336930A>T	ENSP00000359337:p.Ser417Thr					RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417T	p.S417T	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			10	1487	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1249T>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323489	0.24080	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82081	-1.57;-1.57;-1.57	4.71	3.49	0.39957	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.029980	0.07604	N	0.924197	T	0.76118	0.3943	L	0.39245	1.2	0.36884	D	0.889555	B	0.33000	0.393	B	0.31495	0.131	T	0.64757	-0.6332	10	0.33141	T	0.24	.	8.36	0.32353	0.6137:0.3863:0.0:0.0	.	417	P34903	GBRA3_HUMAN	T	417	ENSP00000359337:S417T;ENSP00000359334:S417T;ENSP00000443527:S417T	ENSP00000359334:S417T	S	-	1	0	GABRA3	151087586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.662000	0.46766	0.544000	0.28883	0.483000	0.47432	TCC		0.552	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		14	280	0	0	0	1	0	14	280					T	151336930	A	T	151336930	3	4	216	1	0	0	0	0	1	0	0	0	6162	304	11	5	233	5	GABRA3	23	151336930	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	15908461	151336930	3933630	55	27255											
NAA10	8260	broad.mit.edu	37	chrX	153195616	153195616	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgctctccaccttgtTctcgatggcacccagcacca	7	17	2	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	ENST00000464845.1	-	8	850	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	178					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(532-534)Aac>Gac		N(alpha)-acetyltransferase 10, NatA catalytic subunit							123	96	106					X																	153195616		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195616T>C	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.532A>G	X.37:g.153195616T>C	ENSP00000417763:p.Asn178Asp					NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR	p.N178D	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN			8	850	-			178					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.532A>G	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083474	0.36758	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.58506	0.33;0.36	4.61	4.61	0.57282	.	0.266832	0.36101	N	0.002793	T	0.48978	0.1530	L	0.46157	1.445	0.36577	D	0.873309	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.52704	-0.8540	10	0.29301	T	0.29	-10.5369	12.1261	0.53917	0.0:0.0:0.0:1.0	.	163;178	A6NM98;P41227	.;NAA10_HUMAN	D	178;163	ENSP00000417763:N178D;ENSP00000359026:N163D	ENSP00000359026:N163D	N	-	1	0	NAA10	152848810	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.523000	0.45580	1.704000	0.51252	0.425000	0.28330	AAC		0.627	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		69	78	0	0	0	1	0	69	78					C	153195616	T	C	153195616	3	2	216	1	0	0	0	0	1	0	0	0	10116	1783	62	3	179	3	NAA10	23	153195616	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	1858686	153195616	2074944	56	27256											
TAZ	1774	broad.mit.edu	37	chrX	153640435	153640435	+	5'Flank	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagagtacatgaaccAcctgaccgtgcacaacaggg	10	15	0	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	ENST00000393638.1	-	0	0				TAZ_ENST00000369776.4_Intron|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000299328.5_Missense_Mutation_p.H41L|DNASE1L1_ENST00000369809.1_5'Flank|TAZ_ENST00000475699.1_Missense_Mutation_p.H41L	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(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)					TACATGAACCACCTGACCGTG	0.677											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000299328.5																			0				lung(1)	1						c.(121-123)cAc>cTc		tafazzin							51	38	42					X																	153640435		2198	4298	6496	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153640435A>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153640435A>T	Exception_encountered		OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757	TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron	p.H41L	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			2	411	+	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)		41					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.122A>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.451069	0.26074	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D	0.97352	-3.16;-4.35;-3.16;-3.16;-4.35;-3.16;-3.16;-3.16	4.14	1.6	0.23607	Phospholipid/glycerol acyltransferase (1);	0.208919	0.41712	D	0.000830	D	0.90590	0.7050	N	0.14661	0.345	0.29466	N	0.857439	B;B;B;B;P	0.36354	0.232;0.003;0.007;0.068;0.549	B;B;B;B;B	0.35182	0.103;0.006;0.022;0.062;0.197	D	0.86453	0.1774	10	0.48119	T	0.1	-1.0794	6.3018	0.21117	0.6583:0.0:0.3417:0.0	.	59;41;41;41;41	A6XNE1;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;TAZ_HUMAN	L	41;59;41;41;59;41;41;41	ENSP00000358805:H41L;ENSP00000411182:H59L;ENSP00000299328:H41L;ENSP00000338891:H41L;ENSP00000397388:H59L;ENSP00000218246:H41L;ENSP00000398193:H41L;ENSP00000419854:H41L	ENSP00000299328:H41L	H	+	2	0	TAZ	153293629	0.284000	0.24287	0.999000	0.59377	0.484000	0.33280	0.825000	0.27393	0.347000	0.23924	0.356000	0.21956	CAC		0.677	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			17	13	0	0	0	1	0	17	13					T	153640435	A	T	153640435	1	4	216	0	1	0	0	0	0	0	0	0	15593	159	6	5		5	TAZ	23	153640435	5'Flank	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	444819	153640435	1630125	57	27257											
PPOX	5498	broad.mit.edu	37	chr1	161139471	161139471	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatctctaagggacagcagtCtggaggctgaccacgttatt	11	9	2	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:161139471C>G	ENST00000367999.4	+	8	1095	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L277V|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	277					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACAGCAGTCTGGAGGCTGA	0.473																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(829-831)Ctg>Gtg		protoporphyrinogen oxidase							138	123	128					1																	161139471		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161139471C>G	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.829C>G	1.37:g.161139471C>G	ENSP00000356978:p.Leu277Val					PPOX_ENST00000352210.5_Missense_Mutation_p.L277V|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.L277V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	1095	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		277					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.829C>G	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333293	0.41297	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92149	-2.98;-2.98	5.85	3.99	0.46301	Amine oxidase (1);	0.398479	0.26000	N	0.026942	T	0.79879	0.4522	L	0.41079	1.255	0.80722	D	1	P;B;B	0.42123	0.771;0.287;0.338	B;B;B	0.44224	0.444;0.132;0.121	T	0.75769	-0.3201	10	0.13853	T	0.58	-3.986	5.6404	0.17561	0.1574:0.6797:0.0:0.1629	.	244;115;277	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	V	277;277;244	ENSP00000343943:L277V;ENSP00000356978:L277V	ENSP00000343943:L277V	L	+	1	2	PPOX	159406095	0.970000	0.33590	1.000000	0.80357	0.995000	0.86356	0.287000	0.18920	0.805000	0.34159	0.650000	0.86243	CTG		0.473	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		9	109	0	0	0	1	0	9	109					G	161139471	C	G	161139471	3	3	217	1	0	0	0	0	1	0	0	0	12348	912	32	4	855	4	PPOX	1	161139471	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		161139471	88111150	1	27258											
RC3H1	149041	broad.mit.edu	37	chr1	173930321	173930321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcctttcgtcggcgaTgtagttcatctagactagga	9	8	2	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:173930321T>A	ENST00000367696.2	-	13	2615	c.2264A>T	c.(2263-2265)cAt>cTt	p.H755L	RC3H1_ENST00000367694.2_Missense_Mutation_p.H755L|RC3H1_ENST00000258349.4_Missense_Mutation_p.H755L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	755	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCGTCGGCGATGTAGTTCATC	0.448																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(2263-2265)cAt>cTt		ring finger and CCCH-type domains 1							174	167	169					1																	173930321		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173930321T>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2264A>T	1.37:g.173930321T>A	ENSP00000356669:p.His755Leu					RC3H1_ENST00000258349.4_Missense_Mutation_p.H755L|RC3H1_ENST00000367694.2_Missense_Mutation_p.H755L	p.H755L			Q5TC82	RC3H1_HUMAN			13	2615	-			755			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2264A>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.318583	0.40996	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.41758	1.0;1.0;0.99	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.80764	0.986;0.986;0.994;0.986	T	0.38887	-0.9640	10	0.10902	T	0.67	-21.5742	16.0957	0.81123	0.0:0.0:0.0:1.0	.	755;755;755;755	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	L	755	ENSP00000356669:H755L;ENSP00000258349:H755L;ENSP00000356667:H755L	ENSP00000258349:H755L	H	-	2	0	RC3H1	172196944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.199000	0.70637	0.533000	0.62120	CAT		0.448	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		6	140	0	0	0	1	0	6	140					A	173930321	T	A	173930321	3	1	217	1	0	0	0	0	1	0	0	0	13166	1464	51	5	1169	5	RC3H1	1	173930321	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	12790850	173930321	75320300	2	27259											
PLB1	151056	broad.mit.edu	37	chr2	28772947	28772947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaccccaagacaagcTtgaggtaaggaaaggttttc	11	8	0	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:28772947T>C	ENST00000327757.5	+	16	1123	c.1079T>C	c.(1078-1080)cTt>cCt	p.L360P	PLB1_ENST00000422425.2_Missense_Mutation_p.L371P|PLB1_ENST00000329020.6_Missense_Mutation_p.L48P	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	360	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAGACAAGCTTGAGGTAAGG	0.453																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1111-1113)cTt>cCt		phospholipase B1							80	71	74					2																	28772947		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28772947T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1079T>C	2.37:g.28772947T>C	ENSP00000330442:p.Leu360Pro					PLB1_ENST00000329020.6_Missense_Mutation_p.L48P|PLB1_ENST00000327757.5_Missense_Mutation_p.L360P	p.L371P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			16	1156	+	Acute lymphoblastic leukemia(172;0.155)		360			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1112T>C	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426181	0.11987	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.14391	2.54;2.51;2.59;2.6	4.55	-7.75	0.01236	.	1.903720	0.02042	N	0.049353	T	0.07503	0.0189	N	0.20685	0.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.27054	-1.0085	10	0.30078	T	0.28	1.5122	5.7719	0.18257	0.261:0.4653:0.0:0.2737	.	371;48;360	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	P	360;371;70;48	ENSP00000330442:L360P;ENSP00000416440:L371P;ENSP00000392493:L70P;ENSP00000330729:L48P	ENSP00000330442:L360P	L	+	2	0	PLB1	28626451	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.104000	0.00603	-1.130000	0.02914	-1.363000	0.01210	CTT		0.453	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	15	0	0	0	1	0	9	15					C	28772947	T	C	28772947	3	2	217	1	0	0	0	0	1	0	0	0	12024	1609	56	3	1174	3	PLB1	2	28772947	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		28772947	214426426	3	27260											
GALM	130589	broad.mit.edu	37	chr2	38903112	38903112	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagggtggccaaccgaatCgccaaaggaaccttcaaggt	14	10	1	0	rs397872216		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:38903112C>T	ENST00000272252.5	+	2	501	c.249C>T	c.(247-249)atC>atT	p.I83I	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	83					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)				CCAACCGAATCGCCAAAGGAA	0.473																																						ENST00000272252.5																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(247-249)atC>atT		galactose mutarotase (aldose 1-epimerase)							158	130	140					2																	38903112		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38903112C>T		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.249C>T	2.37:g.38903112C>T						GALM_ENST00000410063.1_Intron	p.I83I	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			2	501	+		all_hematologic(82;0.248)	83					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.249C>T	CCDS1797.1																																																																																				0.473	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		5	105	0	0	0	1	0	5	105					T	38903112	C	T	38903112	2	4	217	1	0	0	0	0	0	0	0	1	6205	874	31	1		1	GALM	2	38903112	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	10130165	38903112	204296261	4	27261											
R3HDM1	23518	broad.mit.edu	37	chr2	136467732	136467732	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccccgcagtggaaacaaaaCaaatattactgtgatcacca	6	12	1	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:136467732C>G	ENST00000264160.4	+	22	2932	c.2562C>G	c.(2560-2562)aaC>aaG	p.N854K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	854							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAACAAAACAAATATTACT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2560-2562)aaC>aaG		R3H domain containing 1							128	117	121					2																	136467732		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467732C>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2562C>G	2.37:g.136467732C>G	ENSP00000264160:p.Asn854Lys		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K	p.N854K	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2932	+			854					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2562C>G	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.77|12.77|12.77	2.038939|2.038939|2.038939	0.35989|0.35989|0.35989	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703|ENST00000445855	T;T;T;T;T|.|.	0.30714|.|.	1.56;1.52;1.56;1.55;1.53|.|.	5.49|5.49|5.49	0.584|0.584|0.584	0.17422|0.17422|0.17422	.|.|.	0.330928|.|.	0.35040|.|.	N|.|.	0.003495|.|.	T|T|T	0.41581|0.41581|0.41581	0.1165|0.1165|0.1165	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.25119|0.25119|0.25119	N|N|N	0.99065|0.99065|0.99065	D;P;P;P|.|.	0.69078|.|.	0.997;0.682;0.791;0.791|.|.	P;B;B;B|.|.	0.61397|.|.	0.888;0.151;0.343;0.343|.|.	T|T|T	0.34229|0.34229|0.34229	-0.9837|-0.9837|-0.9837	10|5|5	0.22109|.|.	T|.|.	0.4|.|.	-4.2823|-4.2823|-4.2823	8.1846|8.1846|8.1846	0.31330|0.31330|0.31330	0.0:0.4223:0.0:0.5777|0.0:0.4223:0.0:0.5777|0.0:0.4223:0.0:0.5777	.|.|.	726;855;799;854|.|.	G5E9G8;E9PBB4;E9PG42;Q15032|.|.	.;.;.;R3HD1_HUMAN|.|.	K|E|R	726;854;725;799;855|578|150	ENSP00000386457:N726K;ENSP00000264160:N854K;ENSP00000331396:N725K;ENSP00000386877:N799K;ENSP00000387010:N855K|.|.	ENSP00000264160:N854K|.|.	N|Q|T	+|+|+	3|1|2	2|0|0	R3HDM1|R3HDM1|R3HDM1	136184202|136184202|136184202	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	0.191000|0.191000|0.191000	0.17076|0.17076|0.17076	0.291000|0.291000|0.291000	0.22468|0.22468|0.22468	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	AAC|CAA|ACA		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		15	79	0	0	0	1	0	15	79					G	136467732	C	G	136467732	3	3	217	1	0	0	0	0	1	0	0	0	12887	477	17	4	2640	4	R3HDM1	2	136467732	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	97564620	136467732	106731641	5	27262											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	33	0	0	0	1	0	29	33					T	209113112	C	T	209113112	3	4	217	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	72645380	209113112	34086261	6	27263											
ZBTB20	26137	broad.mit.edu	37	chr3	114070289	114070289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgactcgggagtgccccgCggcgtgtcctggcccgagtc	15	16	0	1	rs143932166	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr3:114070289C>T	ENST00000474710.1	-	4	814	c.636G>A	c.(634-636)ccG>ccA	p.P212P	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.P139P|ZBTB20_ENST00000462705.1_Silent_p.P139P|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.P139P|ZBTB20_ENST00000357258.3_Silent_p.P139P|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.P139P|ZBTB20_ENST00000464560.1_Silent_p.P139P	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	212						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCCCGCGGCGTGTCCT	0.642																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(415-417)ccG>ccA		zinc finger and BTB domain containing 20							66	60	62					3																	114070289		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070289C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.636G>A	3.37:g.114070289C>T						ZBTB20_ENST00000357258.3_Silent_p.P139P|ZBTB20_ENST00000393785.2_Silent_p.P139P|ZBTB20_ENST00000481632.1_Silent_p.P139P|ZBTB20_ENST00000464560.1_Silent_p.P139P|ZBTB20_ENST00000471418.1_Silent_p.P139P|ZBTB20_ENST00000474710.1_Silent_p.P212P	p.P139P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1238	-			212			BTB.		Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.417G>A	CCDS54626.1																																																																																				0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	97	0	0	0	1	0	4	97					T	114070289	C	T	114070289	2	4	217	1	0	0	0	0	0	0	0	1	17526	755	27	1		1	ZBTB20	3	114070289	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		114070289	83952141	7	27264											
PCDH7	5099	broad.mit.edu	37	chr4	31144302	31144302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccatcatgggtgaccGcaacagaaacctcctgaaca	10	14	1	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr4:31144302G>A	ENST00000543491.1	+	3	3599	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3598-3600)cGc>cAc		protocadherin 7							100	100	100					4																	31144302		1929	4136	6065	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144302G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3599G>A	4.37:g.31144302G>A	ENSP00000441802:p.Arg1200His						p.R1200H			O60245	PCDH7_HUMAN			3	3599	+			0					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3599G>A	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953780	0.53293	.	.	ENSG00000169851	ENST00000543491;ENST00000333135	T	0.51817	0.69	5.87	5.87	0.94306	.	.	.	.	.	T	0.64125	0.2570	L	0.44542	1.39	0.58432	D	0.999999	B;D	0.76494	0.084;0.999	B;D	0.80764	0.019;0.994	T	0.59354	-0.7470	9	0.46703	T	0.11	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1200;1145	F5GWJ1;O60245-3	.;.	H	1200;1145	ENSP00000441802:R1200H	ENSP00000330302:R1145H	R	+	2	0	PCDH7	30753400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.358000	0.73055	2.941000	0.99782	0.655000	0.94253	CGC		0.502	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		4	148	0	0	0	1	0	4	148					A	31144302	G	A	31144302	3	1	217	1	0	0	0	0	1	0	0	0	11516	1087	38	1	3694	1	PCDH7	4	31144302	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		31144302	160009974	8	27265											
SOX4	6659	broad.mit.edu	37	chr6	21595267	21595269	+	In_Frame_Del	DEL	GGC	GGC	-													gtggcgggggcggccatgggGgcggcggcggcggcgggagc							TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:21595267_21595269delGGC	ENST00000244745.1	+	1	1296_1298	c.502_504delGGC	c.(502-504)ggcdel	p.G173del	SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	173					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(502-504)del		SRY (sex determining region Y)-box 4				95,16,1665		33,0,29,3,10,813						-1	0.2			3	19,117,4484		6,1,6,22,72,2203	no	codingComplex	SOX4	NM_003107.2		39,1,35,25,82,3016	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9437,6.25,3.8618				114,133,6149				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595267_21595269delGGC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.502_504delGGC	6.37:g.21595276_21595278delGGC	ENSP00000244745:p.Gly173del					SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1296_1298	+	Ovarian(93;0.163)		173						In_Frame_Del	DEL	ENST00000244745.1	37	c.502_504delGGC	CCDS4547.1																																																																																				0.739	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	9						4	9	---	---	---	---	-	21595269	GGC	-	21595267	7	5	217	1	0	1	0	1	0	0	0	0	14953	1232	43	0	504	0	SOX4	6	21595267	In_Frame_Del	DEL	GGC	TCGA-FG-A60K-01A-11D-A29Q-08		21595267	149519800	9	27266											
GTF2H4	2968	broad.mit.edu	37	chr6	30879464	30879464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacctctgttcctcaggatTactctgtggaaggtatgagt	10	8	3	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:30879464T>C	ENST00000259895.4	+	9	968	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H|VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000541562.1_5'Flank	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	249					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						TCCTCAGGATTACTCTGTGGA	0.478								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(745-747)Tac>Cac	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							97	91	94					6																	30879464		1511	2709	4220	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30879464T>C	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.745T>C	6.37:g.30879464T>C	ENSP00000259895:p.Tyr249His					GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H|GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H	p.Y249H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN			9	968	+			249					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.745T>C	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167792	0.78339	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	T;T;T	0.69306	-0.39;-0.39;-0.39	5.57	5.57	0.84162	.	0.000000	0.64402	U	0.000002	D	0.83142	0.5190	M	0.93462	3.42	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;0.999;0.999	D	0.87342	0.2332	10	0.62326	D	0.03	-17.1309	13.6872	0.62524	0.0:0.0:0.0:1.0	.	255;193;249;249	B4DNU0;B4DTJ5;Q53HH3;Q92759	.;.;.;TF2H4_HUMAN	H	249;193;249	ENSP00000259895:Y249H;ENSP00000442700:Y193H;ENSP00000365493:Y249H	ENSP00000259895:Y249H	Y	+	1	0	GTF2H4	30987443	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.389000	0.79806	2.106000	0.64143	0.533000	0.62120	TAC		0.478	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		37	51	0	0	0	1	0	37	51					C	30879464	T	C	30879464	3	2	217	1	0	0	0	0	1	0	0	0	6865	1754	61	3	775	3	GTF2H4	6	30879464	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	9284197	30879464	140235603	10	27267											
TNF	7124	broad.mit.edu	37	chr6	31545282	31545282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgactttgccgagtctGggcaggtctactttgggatc	12	10	3	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:31545282G>A	ENST00000449264.2	+	4	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	224					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|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 interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TGCCGAGTCTGGGCAGGTCTA	0.567									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(670-672)Ggg>Agg		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						64	63	63					6																	31545282		1509	2709	4218	SO:0001583	missense	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31545282G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"Tumor necrosis factor (ligand) superfamily"	11892	protein-coding gene	gene with protein product	"TNF superfamily, member 2"	191160	"tumor necrosis factor (TNF superfamily, member 2)"	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.670G>A	6.37:g.31545282G>A	ENSP00000398698:p.Gly224Arg						p.G224R	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			4	845	+		Ovarian(999;0.00556)	224					O43647|Q9P1Q2|Q9UIV3	Missense_Mutation	SNP	ENST00000449264.2	37	c.670G>A	CCDS4702.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158431	0.78114	.	.	ENSG00000232810	ENST00000449264	T	0.48836	0.8	5.4	5.4	0.78164	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.069357	0.56097	D	0.000025	T	0.70159	0.3192	H	0.94886	3.595	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.77950	-0.2395	10	0.87932	D	0	.	10.1635	0.42866	0.0905:0.0:0.9095:0.0	.	224	P01375	TNFA_HUMAN	R	224	ENSP00000398698:G224R	ENSP00000398698:G224R	G	+	1	0	TNF	31653261	1.000000	0.71417	0.986000	0.45419	0.846000	0.48090	5.459000	0.66685	2.537000	0.85549	0.561000	0.74099	GGG		0.567	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			24	37	0	0	0	1	0	24	37					A	31545282	G	A	31545282	3	1	217	1	0	0	0	0	1	0	0	0	16268	1348	47	2	684	2	TNF	6	31545282	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	665818	31545282	139569785	11	27268											
KIF25	3834	broad.mit.edu	37	chr6	168430294	168430294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcaggtcagcttcagcGtgagaagcaggccaggcctg	14	12	3	1	rs150821798	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:168430294G>A	ENST00000443060.2	+	3	420	c.29G>A	c.(28-30)cGt>cAt	p.R10H	KIF25_ENST00000351261.3_Missense_Mutation_p.R10H|KIF25_ENST00000354419.2_Missense_Mutation_p.R10H			Q9UIL4	KIF25_HUMAN	kinesin family member 25	10	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCTTCAGCGTGAGAAGCAG	0.632																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(28-30)cGt>cAt		kinesin family member 25		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101	98	99		29,29	-0.6	0	6	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIF25	NM_005355.3,NM_030615.2	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	10/333,10/385	168430294	2,13004	2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430294G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.29G>A	6.37:g.168430294G>A	ENSP00000388878:p.Arg10His					KIF25_ENST00000354419.2_Missense_Mutation_p.R10H|KIF25_ENST00000351261.3_Missense_Mutation_p.R10H	p.R10H			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	420	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	10			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.29G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.333376	0.01298	2.27E-4	1.16E-4	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.74002	-0.8;-0.8;-0.01	0.658	-0.592	0.11671	Kinesin, motor domain (1);	10.352100	0.01222	N	0.008123	T	0.30665	0.0772	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	0.03483	-1.1032	8	.	.	.	.	.	.	.	.	10;10	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	H	10	ENSP00000388878:R10H;ENSP00000346401:R10H;ENSP00000252688:R10H	.	R	+	2	0	KIF25	168173143	0.005000	0.15991	0.000000	0.03702	0.005000	0.04900	-1.074000	0.03427	-1.024000	0.03338	-1.021000	0.02439	CGT		0.632	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			32	90	0	0	0	1	0	32	90					A	168430294	G	A	168430294	3	1	217	1	0	0	0	0	1	0	0	0	8293	1145	40	1	31	1	KIF25	6	168430294	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	136885012	168430294	2684773	12	27269											
SCARA5	286133	broad.mit.edu	37	chr8	27779274	27779274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgcaggtcctgcagccGcgtgcggtggagggccacgt	16	15	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr8:27779274G>A	ENST00000354914.3	-	4	1215	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	SCARA5_ENST00000524352.1_Missense_Mutation_p.R244W|SCARA5_ENST00000518030.1_Missense_Mutation_p.R201W|SCARA5_ENST00000301906.4_Missense_Mutation_p.R201W|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	244					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCCTGCAGCCGCGTGCGGTGG	0.721																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(730-732)Cgg>Tgg		scavenger receptor class A, member 5 (putative)							16	16	16					8																	27779274		2185	4258	6443	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27779274G>A	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.730C>T	8.37:g.27779274G>A	ENSP00000346990:p.Arg244Trp					SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Missense_Mutation_p.R201W|SCARA5_ENST00000518030.1_Missense_Mutation_p.R201W|SCARA5_ENST00000524352.1_Missense_Mutation_p.R244W	p.R244W	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	4	1215	-		Ovarian(32;0.0218)	244					Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.730C>T	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060304	0.19987	.	.	ENSG00000168079	ENST00000354914;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D	0.91237	-2.43;-2.81;-2.71;-2.71	4.9	4.01	0.46588	.	0.391638	0.26032	N	0.026750	D	0.82692	0.5092	L	0.29908	0.895	0.28461	N	0.915894	B;B;B	0.15930	0.007;0.015;0.01	B;B;B	0.12837	0.008;0.005;0.003	T	0.74084	-0.3779	10	0.54805	T	0.06	.	5.6945	0.17847	0.1035:0.0:0.7032:0.1933	.	244;201;244	Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;SCAR5_HUMAN	W	244;244;201;201	ENSP00000346990:R244W;ENSP00000428663:R244W;ENSP00000430713:R201W;ENSP00000301906:R201W	ENSP00000301906:R201W	R	-	1	2	SCARA5	27835193	0.994000	0.37717	0.998000	0.56505	0.800000	0.45204	3.680000	0.54641	1.038000	0.40049	0.449000	0.29647	CGG		0.721	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		3	12	0	0	0	1	0	3	12					A	27779274	G	A	27779274	3	1	217	1	0	0	0	0	1	0	0	0	13880	1086	38	1	781	1	SCARA5	8	27779274	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		27779274	118584748	13	27270											
CNTNAP3	79937	broad.mit.edu	37	chr9	39086827	39086827	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgatgtctatctagcttGtacctaatctgcaaacttcc	5	10	3	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr9:39086827G>C	ENST00000297668.6	-	20	3313	c.3240C>G	c.(3238-3240)taC>taG	p.Y1080*	CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Y992*|CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Y999*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1080	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATCTAGCTTGTACCTAATCT	0.313																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(3238-3240)taC>taG		contactin associated protein-like 3							3	3	3					9																	39086827		1662	3479	5141	SO:0001587	stop_gained	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39086827G>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3240C>G	9.37:g.39086827G>C	ENSP00000297668:p.Tyr1080*					CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Y999*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Y992*	p.Y1080*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	20	3313	-			1080			Laminin G-like 4.		B1AMA0|Q9C0E9	Nonsense_Mutation	SNP	ENST00000297668.6	37	c.3240C>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	38	7.116531	0.98074	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	.	.	.	2.73	-0.602	0.11634	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7754	0.34758	0.1887:0.0:0.8113:0.0	.	.	.	.	X	1080;999;992	.	ENSP00000297668:Y1080X	Y	-	3	2	CNTNAP3	39076827	1.000000	0.71417	0.875000	0.34327	0.787000	0.44495	1.694000	0.37752	-0.130000	0.11599	0.306000	0.20318	TAC		0.313	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		4	35	0	0	0	1	0	4	35					C	39086827	G	C	39086827	4	2	217	1	0	0	0	0	0	1	0	0	3648	1372	48	4	646	4	CNTNAP3	9	39086827	Nonsense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		39086827	102126604	14	27271											
OR2D2	120776	broad.mit.edu	37	chr11	6912815	6912815	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagccttcatgggaaaTtccttgtggctactttcctc	7	12	1	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr11:6912815T>C	ENST00000299459.2	-	1	1015	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	306					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(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCATGGGAAATTCCTTGTGGC	0.458																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(916-918)aAt>aGt		olfactory receptor, family 2, subfamily D, member 2							70	62	64					11																	6912815		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6912815T>C	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.917A>G	11.37:g.6912815T>C	ENSP00000299459:p.Asn306Ser						p.N306S	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1015	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	306					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.917A>G	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	t	0.010	-1.770382	0.00645	.	.	ENSG00000166368	ENST00000299459	T	0.10099	2.91	4.98	3.85	0.44370	.	0.367469	0.23404	N	0.048548	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40961	-0.9535	10	0.10636	T	0.68	-23.414	9.3288	0.38010	0.0:0.0857:0.0:0.9143	.	306	Q9H210	OR2D2_HUMAN	S	306	ENSP00000299459:N306S	ENSP00000299459:N306S	N	-	2	0	OR2D2	6869391	0.000000	0.05858	0.006000	0.13384	0.247000	0.25773	-0.097000	0.11042	1.029000	0.39812	-0.289000	0.09944	AAT		0.458	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		11	42	0	0	0	1	0	11	42					C	6912815	T	C	6912815	3	2	217	1	0	0	0	0	1	0	0	0	10994	1493	52	3	12	3	OR2D2	11	6912815	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		6912815	128093701	15	27272											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424735	6424735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggagatgagccaggagCtctgccaccaacaggaggcc	13	14	1	2	rs199975133		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:6424735C>T	ENST00000396988.3	+	5	705	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L127F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCAGGAGCTCTGCCACCA	0.557																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(379-381)Ctc>Ttc		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							43	45	44					12																	6424735		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6424735C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.475C>T	12.37:g.6424735C>T	ENSP00000380185:p.Leu159Phe					PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L159F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F	p.L127F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			4	873	+			159					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.379C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	2.979	-0.210747	0.06140	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.78	1.51	0.23008	Dbl homology (DH) domain (2);	0.453160	0.20455	N	0.092008	T	0.38506	0.1043	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.18461	0.016;0.016;0.028	B;B;B	0.17433	0.018;0.018;0.018	T	0.13548	-1.0505	10	0.09590	T	0.72	-17.5483	3.5186	0.07734	0.0:0.5397:0.2137:0.2466	.	127;159;159	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	F	159;159;159;127	ENSP00000011684:L159F;ENSP00000442836:L159F;ENSP00000380185:L159F;ENSP00000393194:L127F	ENSP00000011684:L159F	L	+	1	0	PLEKHG6	6294996	0.734000	0.28142	0.068000	0.19968	0.981000	0.71138	0.555000	0.23422	0.529000	0.28599	0.561000	0.74099	CTC		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		13	48	0	0	0	1	0	13	48					T	6424735	C	T	6424735	3	4	217	1	0	0	0	0	1	0	0	0	12074	797	28	2	535	2	PLEKHG6	12	6424735	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		6424735	127427160	16	27273											
CLEC4D	338339	broad.mit.edu	37	chr12	8673735	8673735	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagattctggcataagaaTgaacccgacaactctcaggg	9	10	3	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:8673735T>G	ENST00000299665.2	+	6	709	c.516T>G	c.(514-516)aaT>aaG	p.N172K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCATAAGAATGAACCCGACA	0.333																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(514-516)aaT>aaG		C-type lectin domain family 4, member D							124	119	120					12																	8673735		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673735T>G	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.516T>G	12.37:g.8673735T>G	ENSP00000299665:p.Asn172Lys						p.N172K	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			6	709	+	Lung SC(5;0.184)		172			C-type lectin.		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.516T>G	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	T	6.862	0.528451	0.13127	.	.	ENSG00000166527	ENST00000299665	T	0.17370	2.28	4.0	1.57	0.23409	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18299	0.0439	M	0.64404	1.975	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.27123	-1.0083	9	0.62326	D	0.03	.	5.8118	0.18469	0.0:0.1007:0.1744:0.7249	.	172	Q8WXI8	CLC4D_HUMAN	K	172	ENSP00000299665:N172K	ENSP00000299665:N172K	N	+	3	2	CLEC4D	8565002	0.005000	0.15991	0.013000	0.15412	0.001000	0.01503	-0.152000	0.10159	0.030000	0.15379	-1.171000	0.01739	AAT		0.333	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		24	29	0	0	0	1	0	24	29					G	8673735	T	G	8673735	3	3	217	1	0	0	0	0	1	0	0	0	3514	1461	51	5	538	5	CLEC4D	12	8673735	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	2249000	8673735	125178160	17	27274											
ACACB	32	broad.mit.edu	37	chr12	109605743	109605743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgccgtgaagtgcatgCgctccatccgcaggtgggcc	14	14	0	1	rs370590640		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:109605743C>T	ENST00000338432.7	+	4	948	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ACACB_ENST00000377848.3_Missense_Mutation_p.R277C|ACACB_ENST00000377854.5_Missense_Mutation_p.R277C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	277	Biotin carboxylation.				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)	GAAGTGCATGCGCTCCATCCG	0.592																																						ENST00000338432.7																			0				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						c.(829-831)Cgc>Tgc		acetyl-CoA carboxylase beta	Biotin(DB00121)	C	CYS/ARG	0,4406		0,0,2203	152	102	119		829	5.2	1	12		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	277/2459	109605743	1,13005	2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109605743C>T	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.829C>T	12.37:g.109605743C>T	ENSP00000341044:p.Arg277Cys					ACACB_ENST00000377854.5_Missense_Mutation_p.R277C|ACACB_ENST00000377848.3_Missense_Mutation_p.R277C	p.R277C			O00763	ACACB_HUMAN			4	948	+			277			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.829C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296112	0.95574	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.74947	-0.89;-0.89;-0.89	5.16	5.16	0.70880	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.097634	0.64402	D	0.000001	D	0.92967	0.7762	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96366	0.9270	10	0.87932	D	0	.	18.2724	0.90072	0.0:1.0:0.0:0.0	.	277	O00763	ACACB_HUMAN	C	277	ENSP00000341044:R277C;ENSP00000367079:R277C;ENSP00000367085:R277C	ENSP00000341044:R277C	R	+	1	0	ACACB	108090126	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.052000	0.71080	2.400000	0.81607	0.563000	0.77884	CGC		0.592	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	95	0	0	0	1	0	4	95					T	109605743	C	T	109605743	3	4	217	1	0	0	0	0	1	0	0	0	107	768	27	1	839	1	ACACB	12	109605743	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	100932008	109605743	24246152	18	27275											
CCNA1	8900	broad.mit.edu	37	chr13	37012005	37012006	+	Frame_Shift_Ins	INS	-	-	A													tgcacttcctgctggatttcINSaacacaggtaactgacttgc							TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr13:37012005_37012006insA	ENST00000255465.4	+	3	801_802	c.537_538insA	c.(538-540)aacfs	p.N180fs	CCNA1_ENST00000418263.1_Frame_Shift_Ins_p.N179fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.N136fs|CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.N136fs			P78396	CCNA1_HUMAN	cyclin A1	180					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCTGGATTTCAACACAGGTAA	0.47																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(532-537)ttacacfs		cyclin A1																																				SO:0001589	frameshift_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012005_37012006insA	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.539dupA	13.37:g.37012007_37012007dupA	ENSP00000255465:p.Asn180fs					CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.H136fs|CCNA1_ENST00000255465.4_Frame_Shift_Ins_p.H180fs|CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.H136fs	p.H179fs	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	884_885	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	180					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Frame_Shift_Ins	INS	ENST00000255465.4	37	c.534_535insA	CCDS9357.1																																																																																				0.47	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		42	84						42	84	---	---	---	---	A	37012006	-	A	37012005	7	5	217	1	0	1	1	0	0	0	0	0	2909	825	29	0	547	0	CCNA1	13	37012005	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08		37012005	78157873	19	27276											
REC8	79711	broad.mit.edu	37	chr14	24648076	24648076	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgcctgaggaggcagCcgctgaggaggaaaggagaa	18	7	0	4			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr14:24648076C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.A385V|REC8_ENST00000559919.1_Missense_Mutation_p.A385V	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)		GAGGAGGCAGCCGCTGAGGAG	0.587																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1153-1155)gCc>gTc		REC8 meiotic recombination protein							134	150	145					14																	24648076		1958	4135	6093	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648076C>T	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.24648076C>T						REC8_ENST00000559919.1_Missense_Mutation_p.A385V	p.A385V			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	15	1753	+			386			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1154C>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294848	0.23564	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.24538	1.85	3.61	-0.767	0.11016	.	0.753768	0.12473	N	0.465835	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	D;B	0.61697	0.99;0.0	P;B	0.54889	0.763;0.001	T	0.12041	-1.0563	10	0.30854	T	0.27	-0.2042	3.0617	0.06201	0.3633:0.4135:0.0:0.2232	.	369;386	O95072-2;O95072	.;REC8_HUMAN	V	385;368	ENSP00000308699:A385V	ENSP00000308699:A385V	A	+	2	0	REC8	23717916	0.573000	0.26676	0.001000	0.08648	0.192000	0.23643	0.919000	0.28692	-0.065000	0.13021	0.375000	0.23000	GCC		0.587	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		5	424	0	0	0	1	0	5	424					T	24648076	C	T	24648076	1	4	217	0	1	0	0	0	0	0	0	0	13199	739	26	2		2	REC8	14	24648076	IGR	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		24648076	82701464	20	27277											
TTBK2	146057	broad.mit.edu	37	chr15	43102841	43102841	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgtaaaataatccaAagaagagatatggtctagaa	9	3	1	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:43102841A>C	ENST00000267890.6	-	9	901	c.793T>G	c.(793-795)Ttg>Gtg	p.L265V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAATAATCCAAAGAAGAGATA	0.398																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(793-795)Ttg>Gtg		tau tubulin kinase 2							108	103	105					15																	43102841		1854	4089	5943	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43102841A>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.793T>G	15.37:g.43102841A>C	ENSP00000267890:p.Leu265Val					TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V|TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V	p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	9	901	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	265			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.793T>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684463	0.68157	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.22336	1.96	5.85	3.43	0.39272	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064498	0.64402	D	0.000007	T	0.52581	0.1743	H	0.95365	3.66	0.48135	D	0.999598	D;D;D;D	0.76494	0.999;0.994;0.993;0.989	D;D;P;D	0.76575	0.988;0.962;0.88;0.967	T	0.57493	-0.7802	10	0.87932	D	0	.	6.2946	0.21079	0.7244:0.1355:0.1401:0.0	.	245;196;265;265	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	V	265;195;245	ENSP00000267890:L265V	ENSP00000263802:L245V	L	-	1	2	TTBK2	40890133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.107000	0.41844	1.046000	0.40249	0.533000	0.62120	TTG		0.398	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		26	44	0	0	0	1	0	26	44					C	43102841	A	C	43102841	3	2	217	1	0	0	0	0	1	0	0	0	16674	11	1	5	2969	5	TTBK2	15	43102841	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		43102841	59428551	21	27278											
GLIS2	84662	broad.mit.edu	37	chr16	4385109	4385109	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acctggtggaccatgtcaacGattaccatgtcaagcccgag	10	12	2	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:4385109G>C	ENST00000262366.3	+	6	1392	c.571G>C	c.(571-573)Gat>Cat	p.D191H	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	191					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						CCATGTCAACGATTACCATGT	0.617																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(571-573)Gat>Cat		GLIS family zinc finger 2							73	79	77					16																	4385109		2197	4300	6497	SO:0001583	missense	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4385109G>C	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.571G>C	16.37:g.4385109G>C	ENSP00000262366:p.Asp191His					PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H	p.D191H			Q9BZE0	GLIS2_HUMAN			6	1392	+			191					B3KX84	Missense_Mutation	SNP	ENST00000262366.3	37	c.571G>C	CCDS10511.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935075	0.92458	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	D;D	0.91237	-2.81;-2.81	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.115605	0.56097	D	0.000026	D	0.87481	0.6188	L	0.45422	1.42	0.80722	D	1	P	0.36330	0.548	B	0.32583	0.148	D	0.87960	0.2729	10	0.62326	D	0.03	.	18.2987	0.90155	0.0:0.0:1.0:0.0	.	191	Q9BZE0	GLIS2_HUMAN	H	191	ENSP00000262366:D191H;ENSP00000395547:D191H	ENSP00000262366:D191H	D	+	1	0	GLIS2	4325110	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	7.795000	0.85887	2.615000	0.88500	0.555000	0.69702	GAT		0.617	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575		46	73	0	0	0	1	0	46	73					C	4385109	G	C	4385109	3	2	217	1	0	0	0	0	1	0	0	0	6446	1058	37	4	585	4	GLIS2	16	4385109	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		4385109	85969644	22	27279											
AATK	9625	broad.mit.edu	37	chr17	79094374	79094374	+	Frame_Shift_Del	DEL	G	G	-													ccggccctgacaacagtcctGggggcccctggaactcagag							TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr17:79094374delG	ENST00000326724.4	-	11	3386	c.3362delC	c.(3361-3363)ccafs	p.P1121fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.P1018fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1121	Pro-rich.				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)			CAACAGTCCTGGGGGCCCCTG	0.692																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3361-3363)cafs		apoptosis-associated tyrosine kinase							6	7	6					17																	79094374		1763	3977	5740	SO:0001589	frameshift_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094374delG	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.3362delC	17.37:g.79094374delG	ENSP00000324196:p.Pro1121fs					AATK_ENST00000417379.1_Frame_Shift_Del_p.P1018fs	p.P1121fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3386	-	all_neural(118;0.101)		1121			Pro-rich.		O75136|Q6ZN31|Q86X28	Frame_Shift_Del	DEL	ENST00000326724.4	37	c.3362delC	CCDS45807.1																																																																																				0.692	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		2	4						2	4	---	---	---	---	-	79094374	G	-	79094374	7	5	217	1	0	1	0	1	0	0	0	0	26	1348	47	0	778	0	AATK	17	79094374	Frame_Shift_Del	DEL	G	TCGA-FG-A60K-01A-11D-A29Q-08		79094374	2100836	23	27280											
DOCK6	57572	broad.mit.edu	37	chr19	11348871	11348871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccactgaccggcagagCctggctggggtcctcgcctg	14	15	0	2			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:11348871C>T	ENST00000294618.7	-	15	1764	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	DOCK6_ENST00000319867.7_5'Flank|C19orf80_ENST00000591200.1_Intron|C19orf80_ENST00000252453.8_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	585	DHR-1.				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						ACCGGCAGAGCCTGGCTGGGG	0.637																																						ENST00000294618.7																			0				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						c.(1753-1755)Gct>Act		dedicator of cytokinesis 6							56	62	60					19																	11348871		2045	4191	6236	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11348871C>T		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.1753G>A	19.37:g.11348871C>T	ENSP00000294618:p.Ala585Thr					C19orf80_ENST00000591200.1_Intron	p.A585T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			15	1764	-			585			DHR-1.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1753G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145831	0.94603	.	.	ENSG00000130158	ENST00000294618	T	0.14516	2.5	4.8	4.8	0.61643	.	0.000000	0.35096	U	0.003446	T	0.26666	0.0652	M	0.78637	2.42	0.80722	D	1	B	0.33583	0.418	B	0.40329	0.326	T	0.08638	-1.0712	10	0.72032	D	0.01	.	16.638	0.85064	0.0:1.0:0.0:0.0	.	585	Q96HP0	DOCK6_HUMAN	T	585	ENSP00000294618:A585T	ENSP00000294618:A585T	A	-	1	0	DOCK6	11209871	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.436000	0.66538	2.211000	0.71520	0.591000	0.81541	GCT		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		6	105	0	0	0	1	0	6	105					T	11348871	C	T	11348871	3	4	217	1	0	0	0	0	1	0	0	0	4691	739	26	2	4526	2	DOCK6	19	11348871	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		11348871	47780112	24	27281											
CIC	23152	broad.mit.edu	37	chr19	42798816	42798817	+	Frame_Shift_Ins	INS	-	-	GCGG													aaggtgccatactcctccctINSgcggcgcaccctggaccagc							TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:42798816_42798817insGCGG	ENST00000575354.2	+	19	4428_4429	c.4388_4389insGCGG	c.(4387-4392)ctgcggfs	p.-1464fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-2370fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-1462fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						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)				TACTCCTCCCTGCGGCGCACCC	0.629			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7105-7107)ccgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798816_42798817insGCGG	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.4389_4392dupGCGG	19.37:g.42798817_42798820dupGCGG	ENSP00000458663:p.Arg1464fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1463fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1461fs	p.P2369fs			Q96RK0	CIC_HUMAN			20	7174_7175	+		Prostate(69;0.00682)	1463					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.7106_7107insGCGG	CCDS12601.1																																																																																				0.629	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			22	31						22	31	---	---	---	---	GCGG	42798817	-	GCGG	42798816	7	5	217	1	0	1	1	0	0	0	0	0	3424	1580	55	0	4462	0	CIC	19	42798816	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08	31449945	42798816	16330167	25	27282											
FAM65C	140876	broad.mit.edu	37	chr20	49224997	49224997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgatgacctgcggccgCgtcgtgaagaagtcggcgat	14	12	0	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr20:49224997C>T	ENST00000327979.2	-	11	1284	c.873G>A	c.(871-873)acG>acA	p.T291T	FAM65C_ENST00000045083.2_Silent_p.T291T|FAM65C_ENST00000535356.1_Silent_p.T295T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	291										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGCCGCGTCGTGAAGA	0.662																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-873)acG>acA		family with sequence similarity 65, member C							99	87	91					20																	49224997		2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49224997C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.873G>A	20.37:g.49224997C>T						FAM65C_ENST00000535356.1_Silent_p.T295T|FAM65C_ENST00000045083.2_Silent_p.T291T	p.T291T			Q96MK2	FA65C_HUMAN			11	1284	-			291					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.873G>A	CCDS13431.2																																																																																				0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			64	92	0	0	0	1	0	64	92					T	49224997	C	T	49224997	2	4	217	1	0	0	0	0	0	0	0	1	5601	755	27	1		1	FAM65C	20	49224997	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		49224997	13800523	26	27283											
CRYAA	1409	broad.mit.edu	37	chr21	44592355	44592355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagccatccccgtgtcgCgggaggagaagcccacctcg	14	15	0	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr21:44592355C>T	ENST00000291554.2	+	3	579	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	163					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						CCCCGTGTCGCGGGAGGAGAA	0.677																																						ENST00000291554.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(487-489)Cgg>Tgg		crystallin, alpha A							58	46	50					21																	44592355		2202	4299	6501	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44592355C>T		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.487C>T	21.37:g.44592355C>T	ENSP00000291554:p.Arg163Trp					CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W|CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W|CRYAA_ENST00000482775.1_3'UTR	p.R163W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			3	579	+			163					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.487C>T	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361299	0.61403	.	.	ENSG00000160202	ENST00000291554;ENST00000398133;ENST00000398132	D;D;D	0.93604	-2.98;-3.25;-3.24	3.79	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.75085	2.285	0.58432	D	0.999999	D	0.67145	0.996	P	0.49561	0.615	D	0.93703	0.7017	10	0.87932	D	0	-22.7945	11.042	0.47835	0.1861:0.8139:0.0:0.0	.	163	P02489	CRYAA_HUMAN	W	163;143;126	ENSP00000291554:R163W;ENSP00000381201:R143W;ENSP00000381200:R126W	ENSP00000291554:R163W	R	+	1	2	CRYAA	43465424	1.000000	0.71417	0.975000	0.42487	0.488000	0.33401	4.160000	0.58164	1.684000	0.51022	0.298000	0.19748	CGG		0.677	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			34	37	0	0	0	1	0	34	37					T	44592355	C	T	44592355	3	4	217	1	0	0	0	0	1	0	0	0	3905	759	27	1	497	1	CRYAA	21	44592355	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		44592355	3537540	27	27284											
SLC35E4	339665	broad.mit.edu	37	chr22	31032741	31032741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accggggggcacggcgccccAtgccaggcggcactcgctgc	16	17	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr22:31032741A>G	ENST00000343605.4	+	1	1103	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V|SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	102						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACGGCGCCCCATGCCAGGCGG	0.687																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(304-306)Atg>Gtg		solute carrier family 35, member E4							38	26	30					22																	31032741		2202	4298	6500	SO:0001583	missense	339665					integral to membrane		g.chr22:31032741A>G		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.304A>G	22.37:g.31032741A>G	ENSP00000339626:p.Met102Val					SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V|SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V	p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1103	+			102					Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.304A>G	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	A	1.429	-0.570647	0.03910	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.48	-4.8	0.03190	Drug/metabolite transporter (1);	0.390386	0.28706	N	0.014408	T	0.15955	0.0384	N	0.08118	0	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.06679	-1.0813	10	0.22706	T	0.39	-4.3115	0.7367	0.00967	0.1598:0.2863:0.2001:0.3538	.	102;102	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	V	102;102;102;78	ENSP00000339626:M102V;ENSP00000300385:M102V;ENSP00000384377:M102V;ENSP00000413552:M78V	ENSP00000300385:M102V	M	+	1	0	SLC35E4	29362741	0.429000	0.25530	0.894000	0.35097	0.456000	0.32438	-0.113000	0.10774	-0.962000	0.03604	0.448000	0.29417	ATG		0.687	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		10	27	0	0	0	1	0	10	27					G	31032741	A	G	31032741	3	3	217	1	0	0	0	0	1	0	0	0	14587	217	8	3	306	3	SLC35E4	22	31032741	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		31032741	20271825	28	27285											
MED12	9968	broad.mit.edu	37	chrX	70346299	70346299	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgacctcatggaatattcaCtcagcatcagtggcctcatc	7	13	5	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70346299C>G	ENST00000374080.3	+	19	2682	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	MED12_ENST00000374102.1_Missense_Mutation_p.L884V|MED12_ENST00000333646.6_Missense_Mutation_p.L884V|MED12_ENST00000462984.1_3'UTR			Q93074	MED12_HUMAN	mediator complex subunit 12	884					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATATTCACTCAGCATCAG	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(2650-2652)Ctc>Gtc		mediator complex subunit 12							166	154	158					X																	70346299		2121	4203	6324	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70346299C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2650C>G	X.37:g.70346299C>G	ENSP00000363193:p.Leu884Val					MED12_ENST00000374080.3_Missense_Mutation_p.L884V|MED12_ENST00000374102.1_Missense_Mutation_p.L884V	p.L884V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			19	2849	+	Renal(35;0.156)		884					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2650C>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209933	0.58343	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.68593	2.085	0.53688	D	0.999975	D;D;D;D	0.69078	0.997;0.99;0.995;0.995	D;P;D;D	0.77004	0.989;0.852;0.92;0.975	D	0.89196	0.3554	10	0.66056	D	0.02	-13.5825	10.7464	0.46183	0.0:0.9108:0.0:0.0892	.	884;731;884;884	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	884;884;884;884;852	ENSP00000333125:L884V;ENSP00000363215:L884V;ENSP00000363193:L884V;ENSP00000414203:L852V	ENSP00000333125:L884V	L	+	1	0	MED12	70263024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.338000	0.59316	2.217000	0.71921	0.529000	0.55759	CTC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		42	127	0	0	0	1	0	42	127					G	70346299	C	G	70346299	3	3	217	1	0	0	0	0	1	0	0	0	9428	565	20	4	2724	4	MED12	23	70346299	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		70346299	84924261	29	27286											
ZMYM3	9203	broad.mit.edu	37	chrX	70463798	70463798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcagcagctgagcaggCgagaatatcctctttgatac	11	10	2	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70463798C>T	ENST00000353904.2	-	21	3500	c.3313G>A	c.(3313-3315)Gcc>Acc	p.A1105T	ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.A1093T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					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)					GCTGAGCAGGCGAGAATATCC	0.458																																						ENST00000373998.1																			0				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						c.(3277-3279)Gcc>Acc		zinc finger, MYM-type 3							164	112	129					X																	70463798		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463798C>T	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.3313G>A	X.37:g.70463798C>T	ENSP00000343909:p.Ala1105Thr					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T	p.A1093T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			21	3974	-	Renal(35;0.156)		1105					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3277G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.165848	0.78339	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.44482	1.51;0.92;1.51;1.51;1.52	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.39410	0.1077	N	0.22421	0.69	0.36742	D	0.882266	P;P	0.51240	0.943;0.905	P;B	0.48166	0.569;0.365	T	0.46233	-0.9206	10	0.42905	T	0.14	-12.5039	17.5932	0.88003	0.0:1.0:0.0:0.0	.	1093;1105	Q14202-2;Q14202	.;ZMYM3_HUMAN	T	1105;1093;1105;1100;1107	ENSP00000322845:A1105T;ENSP00000363110:A1093T;ENSP00000343909:A1105T;ENSP00000363096:A1100T;ENSP00000363100:A1107T	ENSP00000322845:A1105T	A	-	1	0	ZMYM3	70380523	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.568000	0.45965	2.339000	0.79563	0.529000	0.55759	GCC		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		32	36	0	0	0	1	0	32	36					T	70463798	C	T	70463798	3	4	217	1	0	0	0	0	1	0	0	0	17698	768	27	1	819	1	ZMYM3	23	70463798	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	117499	70463798	84806762	30	27287											
ARID1A	8289	broad.mit.edu	37	chr1	27059244	27059245	+	Frame_Shift_Ins	INS	-	-	ATGA													gtaagggagggcaagaagatINSatgaacctgagccttcagtc							TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:27059244_27059245insATGA	ENST00000324856.7	+	4	2252_2253	c.1881_1882insATGA	c.(1882-1884)atgfs	p.-629fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-246fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-629fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						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)	p.D627fs*2(1)	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)		GGCAAGAAGATATGAACCTGAG	0.475			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Deletion - Frameshift(1)	p.D627fs*2(1)	ovary(1)	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						c.(1879-1884)gatgaafs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059244_27059245insATGA	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.1882_1885dupATGA	1.37:g.27059245_27059248dupATGA	ENSP00000320485:p.Asn629fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.DE244fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.DE627fs	p.DE627fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	4	2252_2253	+		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)	627					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.1881_1882insATGA	CCDS285.1																																																																																				0.475	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	122						7	122	---	---	---	---	ATGA	27059245	-	ATGA	27059244	7	5	218	1	0	1	1	0	0	0	0	0	913	1403	49	0	1895	0	ARID1A	1	27059244	Frame_Shift_Ins	INS	-	TCGA-FG-A60L-01A-12D-A31L-08		27059244	222191377	1	27288											
ZNF643	65243	broad.mit.edu	37	chr1	40929203	40929203	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagccttcagctgtagttCatcccttattagacactgca	6	11	2	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:40929203C>T	ENST00000411995.2	+	6	1922	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L|ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	516					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)										AGCTGTAGTTCATCCCTTATT	0.353																																						ENST00000411995.2																			0											c.(1546-1548)tCa>tTa		ZFP69 zinc finger protein B							52	54	54					1																	40929203		2203	4298	6501	SO:0001583	missense	65243							g.chr1:40929203C>T	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.1547C>T	1.37:g.40929203C>T	ENSP00000399664:p.Ser516Leu					ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L|ZFP69B_ENST00000484445.1_3'UTR	p.S516L	NM_023070.2	NP_075558.2					6	1922	+								Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1547C>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	16.65	3.183588	0.57800	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.62364	0.03;0.03	3.33	3.33	0.38152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67674	0.2918	L	0.52266	1.64	0.22171	N	0.999316	D	0.63046	0.992	P	0.58721	0.844	T	0.56517	-0.7966	9	0.87932	D	0	.	8.7928	0.34861	0.0:0.7678:0.2322:0.0	.	516	Q9UJL9	ZN643_HUMAN	L	447;516;414	ENSP00000399664:S516L;ENSP00000354547:S414L	ENSP00000354547:S414L	S	+	2	0	ZNF643	40701790	.	.	0.999000	0.59377	0.993000	0.82548	.	.	2.158000	0.67659	0.655000	0.94253	TCA		0.353	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		17	66	0	0	0	1	0	17	66					T	40929203	C	T	40929203	3	4	218	1	0	0	0	0	1	0	0	0	18056	838	29	2	1565	2	ZNF643	1	40929203	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	13869959	40929203	208321418	2	27289											
ECM1	1893	broad.mit.edu	37	chr1	150482462	150482462	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagctgctacctgcccaactCcctgctgaaaaggaaggtga	10	12	0	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:150482462C>A	ENST00000369047.4	+	4	413	c.288C>A	c.(286-288)ctC>ctA	p.L96L	ECM1_ENST00000369049.4_Silent_p.L123L|ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	96					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)			CTGCCCAACTCCCTGCTGAAA	0.592																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				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						c.(286-288)ctC>ctA		extracellular matrix protein 1							98	97	97					1																	150482462		2203	4300	6503	SO:0001819	synonymous_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482462C>A	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.288C>A	1.37:g.150482462C>A						ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000369049.4_Silent_p.L123L	p.L96L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	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)		4	413	+	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)		96					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	ENST00000369047.4	37	c.288C>A	CCDS953.1																																																																																				0.592	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		28	87	1	0	1.16021e-09	1	1.18783e-09	28	87					A	150482462	C	A	150482462	2	1	218	1	0	0	0	0	0	0	0	1	4897	842	30	4		4	ECM1	1	150482462	Silent	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	109553259	150482462	98768159	3	27290											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	42	0	0	0	1	0	23	42					T	209113112	C	T	209113112	3	4	218	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		209113112	34086261	4	27291											
FGD5	152273	broad.mit.edu	37	chr3	14965518	14965518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctttcagttacagagcGgcctgtgagcatgagcttcc	11	11	2	3	rs369779761		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr3:14965518G>A	ENST00000285046.5	+	17	4051	c.3941G>A	c.(3940-3942)cGg>cAg	p.R1314Q	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1314					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						GTTACAGAGCGGCCTGTGAGC	0.537																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3940-3942)cGg>cAg		FYVE, RhoGEF and PH domain containing 5		G	GLN/ARG	1,4127		0,1,2063	55	59	58		3941	4.9	1	3		58	0,8408		0,0,4204	no	missense	FGD5	NM_152536.3	43	0,1,6267	AA,AG,GG		0.0,0.0242,0.0080	probably-damaging	1314/1463	14965518	1,12535	2064	4204	6268	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14965518G>A	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.3941G>A	3.37:g.14965518G>A	ENSP00000285046:p.Arg1314Gln					FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	p.R1314Q	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			17	4051	+			1314					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3941G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642420	0.67244	2.42E-4	0.0	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.12465	2.68;2.68	4.9	4.9	0.64082	.	0.000000	0.47852	D	0.000212	T	0.32496	0.0831	M	0.70595	2.14	0.45087	D	0.998103	D;D	0.89917	1.0;1.0	D;D	0.66084	0.915;0.941	T	0.02081	-1.1217	10	0.32370	T	0.25	-21.2204	13.0936	0.59178	0.0:0.0:0.8394:0.1606	.	1073;1314	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	Q	1314;1073	ENSP00000285046:R1314Q;ENSP00000445949:R1073Q	ENSP00000285046:R1314Q	R	+	2	0	FGD5	14940522	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.510000	0.53393	2.260000	0.74910	0.305000	0.20034	CGG		0.537	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		20	35	0	0	0	1	0	20	35					A	14965518	G	A	14965518	3	1	218	1	0	0	0	0	1	0	0	0	5836	1116	39	1	4007	1	FGD5	3	14965518	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		14965518	183056912	5	27292											
FGFBP1	9982	broad.mit.edu	37	chr4	15938242	15938242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggagagcagggtgaggCtacagatcttcatggctgca	16	7	2	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:15938242C>T	ENST00000382333.1	-	3	308	c.14G>A	c.(13-15)aGc>aAc	p.S5N	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	5					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CAGGGTGAGGCTACAGATCTT	0.537																																						ENST00000382333.1																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(13-15)aGc>aAc		fibroblast growth factor binding protein 1							45	46	45					4																	15938242		2076	4073	6149	SO:0001583	missense	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15938242C>T	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.14G>A	4.37:g.15938242C>T	ENSP00000371770:p.Ser5Asn					FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N	p.S5N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN			3	308	-			5					A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	c.14G>A	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612343	0.28712	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.18502	2.21;2.21	5.77	4.06	0.47325	.	0.781971	0.12707	N	0.445840	T	0.15349	0.0370	L	0.40543	1.245	0.19300	N	0.999974	B	0.09022	0.002	B	0.10450	0.005	T	0.19679	-1.0298	10	0.41790	T	0.15	-0.2955	9.3862	0.38345	0.0:0.7709:0.0:0.2291	.	5	Q14512	FGFP1_HUMAN	N	5	ENSP00000371770:S5N;ENSP00000259988:S5N	ENSP00000259988:S5N	S	-	2	0	FGFBP1	15547340	0.940000	0.31905	0.488000	0.27440	0.730000	0.41778	2.238000	0.43070	0.801000	0.34066	-0.148000	0.13756	AGC		0.537	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		26	42	0	0	0	1	0	26	42					T	15938242	C	T	15938242	3	4	218	1	0	0	0	0	1	0	0	0	5860	797	28	2	694	2	FGFBP1	4	15938242	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		15938242	175216034	6	27293											
HERC5	51191	broad.mit.edu	37	chr4	89407330	89407330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacgaactcttgcaccgtcTcaatttttttgtagaagtat	7	8	2	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:89407330T>C	ENST00000264350.3	+	14	1955	c.1802T>C	c.(1801-1803)cTc>cCc	p.L601P	HERC5_ENST00000508159.1_Missense_Mutation_p.L239P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	601					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTGCACCGTCTCAATTTTTTT	0.333																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(1801-1803)cTc>cCc		HECT and RLD domain containing E3 ubiquitin protein ligase 5							130	132	131					4																	89407330		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89407330T>C	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1802T>C	4.37:g.89407330T>C	ENSP00000264350:p.Leu601Pro					HERC5_ENST00000508159.1_Missense_Mutation_p.L239P	p.L601P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	14	1955	+		Hepatocellular(203;0.114)	601					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.1802T>C	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760967	0.49468	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.40225	1.04;1.11	3.92	3.92	0.45320	.	0.147317	0.29737	N	0.011333	T	0.41190	0.1148	M	0.70275	2.135	0.46298	D	0.99897	B	0.31100	0.308	B	0.30716	0.119	T	0.47598	-0.9105	10	0.72032	D	0.01	.	9.3429	0.38091	0.0:0.0:0.0:1.0	.	601	Q9UII4	HERC5_HUMAN	P	601;239	ENSP00000264350:L601P;ENSP00000424129:L239P	ENSP00000264350:L601P	L	+	2	0	HERC5	89626353	0.922000	0.31269	0.723000	0.30687	0.021000	0.10359	3.066000	0.50002	1.767000	0.52121	0.383000	0.25322	CTC		0.333	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		4	93	0	0	0	1	0	4	93					C	89407330	T	C	89407330	3	2	218	1	0	0	0	0	1	0	0	0	7061	1551	54	3	1856	3	HERC5	4	89407330	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08	73469088	89407330	101746946	7	27294											
PCDHB15	56121	broad.mit.edu	37	chr5	140626622	140626622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctactcgctgctgccGccccgggacccgcacctgcc	10	21	1	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140626622G>A	ENST00000231173.3	+	1	1476	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	492	Cadherin 5. {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(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)			CGCTGCTGCCGCCCCGGGACC	0.667																																						ENST00000231173.3																			0				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						c.(1474-1476)ccG>ccA									68	82	77					5																	140626622		2203	4298	6501	SO:0001819	synonymous_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626622G>A	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.1476G>A	5.37:g.140626622G>A							p.P492P	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1476	+			492			Cadherin 5.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1476G>A	CCDS4257.1																																																																																				0.667	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		59	157	0	0	0	1	0	59	157					A	140626622	G	A	140626622	2	1	218	1	0	0	0	0	0	0	0	1	11540	1074	38	1		1	PCDHB15	5	140626622	Silent	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		140626622	40288638	8	27295											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725644	140725644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctcgagccctccGccaaacccaacgattcggac	10	17	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140725644G>A	ENST00000253812.6	+	1	2044	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	682	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCCCTCCGCCAAACCCAA	0.687																																						ENST00000253812.6																			0				breast(1)	1						c.(2044-2046)Gcc>Acc									30	36	34					5																	140725644		2202	4270	6472	SO:0001583	missense	0							g.chr5:140725644G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2044G>A	5.37:g.140725644G>A	ENSP00000253812:p.Ala682Thr					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A682T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2044	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.2044G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.35	1.612811	0.28712	.	.	ENSG00000254245	ENST00000253812	T	0.48201	0.82	4.95	-5.48	0.02592	Cadherin (1);	604.706000	0.01741	U	0.029415	T	0.27419	0.0673	N	0.22421	0.69	0.09310	N	1	B;B	0.20887	0.049;0.008	B;B	0.15870	0.014;0.009	T	0.09250	-1.0683	10	0.13853	T	0.58	.	4.7376	0.12995	0.1151:0.3996:0.3219:0.1634	.	682;682	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	682	ENSP00000253812:A682T	ENSP00000253812:A682T	A	+	1	0	PCDHGA3	140705828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.703000	0.01900	-0.993000	0.03467	0.563000	0.77884	GCC		0.687	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		4	123	0	0	0	1	0	4	123					A	140725644	G	A	140725644	3	1	218	1	0	0	0	0	1	0	0	0	11555	1087	38	1	2046	1	PCDHGA3	5	140725644	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	99022	140725644	40189616	9	27296											
FABP6	2172	broad.mit.edu	37	chr5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcatggctttcaccgGcaagttcgagatggagagtg	14	9	1	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:159656578G>A	ENST00000402432.3	+	1	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000393980.4_Missense_Mutation_p.G54D	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	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)			GCTTTCACCGGCAAGTTCGAG	0.537																																					Colon(29;562 677 12756 16385 20992)	ENST00000393980.4																			2	Substitution - Missense(2)	p.G54D(1)|p.G5D(1)	kidney(2)	breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(160-162)gGc>gAc		fatty acid binding protein 6, ileal							173	162	166					5																	159656578		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159656578G>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"Fatty acid binding protein family"	3561	protein-coding gene	gene with protein product	"illeal lipid-binding protein", "ileal bile acid binding protein", "gastrotropin"	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.14G>A	5.37:g.159656578G>A	ENSP00000385433:p.Gly5Asp					FABP6_ENST00000402432.3_Missense_Mutation_p.G5D|FABP6_ENST00000393982.1_Missense_Mutation_p.G54D	p.G54D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	307	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	5					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.161G>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429828	0.83776	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.75938	-0.98;-0.98;-0.98	5.41	5.41	0.78517	Calycin-like (1);Cytosolic fatty-acid binding (2);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89944	0.4075	10	0.87932	D	0	-13.8827	16.6824	0.85296	0.0:0.0:1.0:0.0	.	5;54	P51161;P51161-2	FABP6_HUMAN;.	D	54;54;5	ENSP00000377549:G54D;ENSP00000377551:G54D;ENSP00000385433:G5D	ENSP00000377549:G54D	G	+	2	0	FABP6	159589156	1.000000	0.71417	0.910000	0.35882	0.821000	0.46438	7.492000	0.81482	2.520000	0.84964	0.561000	0.74099	GGC		0.537	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		4	175	0	0	0	1	0	4	175					A	159656578	G	A	159656578	3	1	218	1	0	0	0	0	1	0	0	0	5361	1203	42	2	171	2	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	18930934	159656578	21258682	10	27297											
ABCC10	89845	broad.mit.edu	37	chr6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtgtccttggaccGgatccagcttttcctcgacc	10	14	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:43403589G>A	ENST00000372530.4	+	5	1924	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					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)	p.R527Q(2)		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)	TCCTTGGACCGGATCCAGCTT	0.567																																						ENST00000244533.3																			2	Substitution - Missense(2)	p.R527Q(2)	prostate(1)|lung(1)	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						c.(1579-1581)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							113	102	106					6																	43403589		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403589G>A	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.1709G>A	6.37:g.43403589G>A	ENSP00000361608:p.Arg570Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	p.R527Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1939	+	all_lung(25;0.00536)		570			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1580G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126887	0.94429	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97161	-4.27;-3.92;-3.92	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	126;570;527	ENSP00000361593:R126Q;ENSP00000361608:R570Q;ENSP00000244533:R527Q	ENSP00000244533:R527Q	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		21	76	0	0	0	1	0	21	76					A	43403589	G	A	43403589	3	1	218	1	0	0	0	0	1	0	0	0	50	1116	39	1	1590	1	ABCC10	6	43403589	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		43403589	127711478	11	27298											
THBS2	7058	broad.mit.edu	37	chr6	169648831	169648831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagccaacagcgtgcccCtggacttgccgtcctgcttg	11	16	0	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:169648831C>T	ENST00000366787.3	-	4	539	c.290G>A	c.(289-291)aGg>aAg	p.R97K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	97	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGCGTGCCCCTGGACTTGCC	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(289-291)aGg>aAg		thrombospondin 2							112	100	104					6																	169648831		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648831C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.290G>A	6.37:g.169648831C>T	ENSP00000355751:p.Arg97Lys						p.R97K	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	539	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	97			Heparin-binding (Potential).|TSP N-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.290G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041551	0.55003	.	.	ENSG00000186340	ENST00000366787	T	0.02177	4.41	4.55	1.78	0.24846	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37304	U	0.002152	T	0.04907	0.0132	M	0.80982	2.52	0.29223	N	0.873804	D	0.67145	0.996	D	0.75484	0.986	T	0.07385	-1.0775	10	0.66056	D	0.02	-29.2996	9.7295	0.40352	0.0:0.7713:0.0:0.2287	.	97	P35442	TSP2_HUMAN	K	97	ENSP00000355751:R97K	ENSP00000355751:R97K	R	-	2	0	THBS2	169390756	1.000000	0.71417	0.419000	0.26584	0.024000	0.10985	4.520000	0.60524	0.131000	0.18576	0.563000	0.77884	AGG		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		21	81	0	0	0	1	0	21	81					T	169648831	C	T	169648831	3	4	218	1	0	0	0	0	1	0	0	0	15851	681	24	2	3308	2	THBS2	6	169648831	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	126245242	169648831	1466236	12	27299											
SHB	6461	broad.mit.edu	37	chr9	38016073	38016073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctccccctttcctgctttgCtcttgagatcattcttggca	6	14	4	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr9:38016073C>G	ENST00000377707.3	-	2	1338	c.773G>C	c.(772-774)aGc>aCc	p.S258T	RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T|SHB_ENST00000377700.4_Missense_Mutation_p.S258T	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	258	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TCCTGCTTTGCTCTTGAGATC	0.537																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(772-774)aGc>aCc		Src homology 2 domain containing adaptor protein B							174	171	172					9																	38016073		1997	4189	6186	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38016073C>G		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.773G>C	9.37:g.38016073C>G	ENSP00000366936:p.Ser258Thr					SHB_ENST00000377700.4_Missense_Mutation_p.S258T|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T	p.S258T	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	2	1338	-		all_epithelial(88;0.122)	258			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.773G>C	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708620	0.30322	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	T	0.29142	1.58	5.86	-1.34	0.09143	.	0.327366	0.25575	N	0.029726	T	0.10508	0.0257	N	0.08118	0	0.26397	N	0.976482	B	0.19200	0.034	B	0.16722	0.016	T	0.33420	-0.9869	10	0.08179	T	0.78	-11.1166	6.1582	0.20350	0.1472:0.2289:0.0:0.6239	.	258	Q15464	SHB_HUMAN	T	258	ENSP00000366936:S258T	ENSP00000366929:S258T	S	-	2	0	SHB	38006073	0.217000	0.23597	0.995000	0.50966	0.972000	0.66771	-0.874000	0.04210	-0.125000	0.11703	-0.140000	0.14226	AGC		0.537	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			34	121	0	0	0	1	0	34	121					G	38016073	C	G	38016073	3	3	218	1	0	0	0	0	1	0	0	0	14268	797	28	4	776	4	SHB	9	38016073	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		38016073	103197358	13	27300											
AP3M1	26985	broad.mit.edu	37	chr10	75893895	75893895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggacagctgcccggtgGggagtgtgtccccaacatta	14	10	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr10:75893895G>A	ENST00000355264.4	-	4	784	c.473C>T	c.(472-474)cCc>cTc	p.P158L	AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	158					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CTGCCCGGTGGGGAGTGTGTC	0.408																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(472-474)cCc>cTc		adaptor-related protein complex 3, mu 1 subunit							77	69	71					10																	75893895		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75893895G>A	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.473C>T	10.37:g.75893895G>A	ENSP00000347408:p.Pro158Leu					AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L	p.P158L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			4	784	-	Prostate(51;0.0112)		158					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.473C>T	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563650	0.96527	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.79940	-1.32;-1.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93577	0.6909	10	0.87932	D	0	-13.2097	20.1338	0.98010	0.0:0.0:1.0:0.0	.	104;158	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	L	158	ENSP00000347408:P158L;ENSP00000361831:P158L	ENSP00000347408:P158L	P	-	2	0	AP3M1	75563901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.770000	0.95276	0.655000	0.94253	CCC		0.408	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			10	54	0	0	0	1	0	10	54					A	75893895	G	A	75893895	3	1	218	1	0	0	0	0	1	0	0	0	747	1232	43	2	807	2	AP3M1	10	75893895	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		75893895	59640852	14	27301											
AMIGO2	91523	broad.mit.edu	37	chr12	47472572	47472572	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttataactcaggtccagtcTcttaatcagtctgaaaaggt	8	8	4	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:47472572T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.R72G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										AGGTCCAGTCTCTTAATCAGT	0.478																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(214-216)Aga>Gga		adhesion molecule with Ig-like domain 2							84	86	85					12																	47472572		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472572T>C	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		12.37:g.47472572T>C	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G	p.R72G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	680	-	Renal(347;0.138)|Lung SC(27;0.192)		72					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.214A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194654	0.58017	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	4.75	4.75	0.60458	Leucine-rich repeat-containing N-terminal (1);	0.164395	0.46145	D	0.000319	T	0.05686	0.0149	L	0.41632	1.29	0.46901	D	0.999247	P	0.49185	0.92	P	0.50860	0.652	T	0.55617	-0.8113	10	0.27082	T	0.32	-13.4076	14.15	0.65378	0.0:0.0:0.0:1.0	.	72	Q86SJ2	AMGO2_HUMAN	G	72	ENSP00000266581:R72G;ENSP00000449034:R72G;ENSP00000406020:R72G;ENSP00000320848:R72G	ENSP00000266581:R72G	R	-	1	2	AMIGO2	45758839	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	3.208000	0.51114	2.086000	0.62901	0.533000	0.62120	AGA		0.478	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		22	80	0	0	0	1	0	22	80					C	47472572	T	C	47472572	1	2	218	0	1	0	0	0	0	0	0	0	576	1559	54	3		3	AMIGO2	12	47472572	5'Flank	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08		47472572	86379323	15	27302											
KRT71	112802	broad.mit.edu	37	chr12	52940220	52940220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctcgtccagcttgGcccgggcatccttcagggcg	12	17	1	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:52940220G>A	ENST00000267119.5	-	7	1244	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	392	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)		GTCCAGCTTGGCCCGGGCATC	0.622																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1174-1176)gCc>gTc		keratin 71							62	57	59					12																	52940220		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52940220G>A	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.1175C>T	12.37:g.52940220G>A	ENSP00000267119:p.Ala392Val						p.A392V	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	7	1244	-			392			Coil 2.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.1175C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318305	0.40996	.	.	ENSG00000139648	ENST00000267119	D	0.89343	-2.5	4.34	4.34	0.51931	Filament (1);	0.181627	0.25750	N	0.028559	D	0.90256	0.6953	M	0.82823	2.61	0.31076	N	0.712412	B	0.25563	0.129	B	0.37387	0.248	D	0.89303	0.3627	10	0.54805	T	0.06	.	9.7271	0.40339	0.0:0.1397:0.6974:0.163	.	392	Q3SY84	K2C71_HUMAN	V	392	ENSP00000267119:A392V	ENSP00000267119:A392V	A	-	2	0	KRT71	51226487	0.386000	0.25180	1.000000	0.80357	0.515000	0.34225	0.415000	0.21181	2.372000	0.80975	0.561000	0.74099	GCC		0.622	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		19	50	0	0	0	1	0	19	50					A	52940220	G	A	52940220	3	1	218	1	0	0	0	0	1	0	0	0	8484	1203	42	2	408	2	KRT71	12	52940220	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	5467648	52940220	80911675	16	27303											
SERPINA6	866	broad.mit.edu	37	chr14	94780585	94780585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaactccaggctgccaTcaagaaacaaggcattgccc	8	15	1	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94780585T>C	ENST00000341584.3	-	2	547	c.401A>G	c.(400-402)gAt>gGt	p.D134G		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	134					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGCTGCCATCAAGAAACAA	0.502																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(400-402)gAt>gGt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						92	87	88					14																	94780585		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780585T>C	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.401A>G	14.37:g.94780585T>C	ENSP00000342850:p.Asp134Gly						p.D134G	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	547	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	134					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.401A>G	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	T	9.372	1.070797	0.20147	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.88818	-2.43;-1.79	4.85	2.42	0.29668	Serpin domain (3);	1.049680	0.07521	N	0.910514	D	0.87935	0.6303	M	0.71871	2.18	0.09310	N	1	B	0.17465	0.022	B	0.30855	0.121	T	0.76323	-0.3001	10	0.62326	D	0.03	.	3.6119	0.08063	0.135:0.0745:0.1326:0.658	.	134	P08185	CBG_HUMAN	G	134	ENSP00000342850:D134G;ENSP00000452018:D134G	ENSP00000342850:D134G	D	-	2	0	SERPINA6	93850338	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	0.314000	0.19432	0.321000	0.23259	0.533000	0.62120	GAT		0.502	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		11	61	0	0	0	1	0	11	61					C	94780585	T	C	94780585	3	2	218	1	0	0	0	0	1	0	0	0	14093	1435	50	3	832	3	SERPINA6	14	94780585	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08		94780585	12568955	17	27304											
SERPINA11	256394	broad.mit.edu	37	chr14	94914772	94914772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggaagccctggtggatgtCggcttcaggggtttctgtga	16	9	2	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94914772C>T	ENST00000334708.3	-	2	404	c.340G>A	c.(340-342)Gac>Aac	p.D114N	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	114					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)		TGGTGGATGTCGGCTTCAGGG	0.592																																						ENST00000334708.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(340-342)Gac>Aac		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11							87	92	91					14																	94914772		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914772C>T	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.340G>A	14.37:g.94914772C>T	ENSP00000335024:p.Asp114Asn					RP11-349I1.2_ENST00000536735.1_RNA	p.D114N	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	404	-			114					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.340G>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735395	0.30774	.	.	ENSG00000186910	ENST00000334708	D	0.84800	-1.9	5.04	2.25	0.28309	Serpin domain (3);	0.357928	0.26190	N	0.025814	D	0.88511	0.6456	L	0.49256	1.55	0.27437	N	0.953841	D	0.76494	0.999	D	0.70935	0.971	T	0.82289	-0.0531	10	0.40728	T	0.16	.	13.2805	0.60212	0.0:0.7974:0.0:0.2026	.	114	Q86U17	SPA11_HUMAN	N	114	ENSP00000335024:D114N	ENSP00000335024:D114N	D	-	1	0	SERPINA11	93984525	0.936000	0.31750	0.479000	0.27329	0.063000	0.16089	1.713000	0.37951	0.308000	0.22923	-0.907000	0.02831	GAC		0.592	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		4	175	0	0	0	1	0	4	175					T	94914772	C	T	94914772	3	4	218	1	0	0	0	0	1	0	0	0	14088	884	31	1	944	1	SERPINA11	14	94914772	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	134187	94914772	12434768	18	27305											
KLHL25	64410	broad.mit.edu	37	chr15	86312002	86312002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgttctcggagcccctgCcccccgtcacatagaccttg	8	20	2	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr15:86312002C>T	ENST00000337975.5	-	2	1314	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	347					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGAGCCCCTGCCCCCCGTCAC	0.637																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1039-1041)gGc>gAc		kelch-like family member 25							35	31	32					15																	86312002		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312002C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1040G>A	15.37:g.86312002C>T	ENSP00000336800:p.Gly347Asp					KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D|KLHL25_ENST00000559131.1_Intron	p.G347D	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	1314	-			347					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1040G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024836	0.75390	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	D;D	0.99494	-6.01;-6.01	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97394	0.9991	10	0.87932	D	0	.	18.1417	0.89642	0.0:1.0:0.0:0.0	.	347	Q9H0H3	ENC2_HUMAN	D	347;316;347	ENSP00000336800:G347D;ENSP00000444739:G347D	ENSP00000336800:G347D	G	-	2	0	KLHL25	84113006	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.818000	0.86416	2.537000	0.85549	0.462000	0.41574	GGC		0.637	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		3	37	0	0	0	1	0	3	37					T	86312002	C	T	86312002	3	4	218	1	0	0	0	0	1	0	0	0	8380	739	26	2	733	2	KLHL25	15	86312002	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		86312002	16219390	19	27306											
C15orf58	390637	broad.mit.edu	37	chr15	90784327	90784327	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatctccctttgatgctgcaCtctgctctgcctggaagcag	9	13	3	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr15:90784327C>G	ENST00000558017.1	+	4	607	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	GDPGP1_ENST00000329600.6_Missense_Mutation_p.L63V	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	63					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										TGATGCTGCACTCTGCTCTGC	0.572																																						ENST00000558017.1																			0											c.(187-189)Ctc>Gtc		GDP-D-glucose phosphorylase 1							121	122	122					15																	90784327		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784327C>G		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.187C>G	15.37:g.90784327C>G	ENSP00000452793:p.Leu63Val					GDPGP1_ENST00000329600.6_Missense_Mutation_p.L63V	p.L63V	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	607	+			63						Missense_Mutation	SNP	ENST00000558017.1	37	c.187C>G	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136439	0.21123	.	.	ENSG00000183208	ENST00000329600	T	0.39997	1.05	6.03	3.09	0.35607	.	0.156254	0.42682	D	0.000669	T	0.42675	0.1213	M	0.69523	2.12	0.26236	N	0.97894	P	0.34562	0.457	B	0.35510	0.204	T	0.35624	-0.9781	10	0.54805	T	0.06	-9.8625	11.5232	0.50565	0.127:0.6068:0.2662:0.0	.	63	Q6ZNW5	VTC2_HUMAN	V	63	ENSP00000368405:L63V	ENSP00000368405:L63V	L	+	1	0	C15orf58	88585331	0.531000	0.26338	0.041000	0.18516	0.411000	0.31082	1.118000	0.31246	0.408000	0.25621	0.557000	0.71058	CTC		0.572	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		38	117	0	0	0	1	0	38	117					G	90784327	C	G	90784327	3	3	218	1	0	0	0	0	1	0	0	0	1806	565	20	4	189	4	C15orf58	15	90784327	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	4472325	90784327	11747065	20	27307											
MYH11	4629	broad.mit.edu	37	chr16	15813153	15813153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgcgagccctctcagCggcggcgaggtcctaggtgg	16	11	1	0	rs200410021		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:15813153C>T	ENST00000300036.5	-	36	5204	c.5095G>A	c.(5095-5097)Gct>Act	p.A1699T	NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1706T|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T|MYH11_ENST00000576790.2_Missense_Mutation_p.A1699T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1699					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCTCTCAGCGGCGGCGAGG	0.602			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(5095-5097)Gct>Act		myosin, heavy chain 11, smooth muscle		C	THR/ALA,THR/ALA,,THR/ALA,,THR/ALA	0,4394		0,0,2197	48	43	45		5116,5116,,5095,,5095	5.6	0.9	16		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,intron,missense	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	58,58,,58,,58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,benign,,benign	1706/1946,1706/1980,,1699/1973,,1699/1939	15813153	1,12993	2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15813153C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5095G>A	16.37:g.15813153C>T	ENSP00000300036:p.Ala1699Thr					MYH11_ENST00000576790.1_Missense_Mutation_p.A1699T|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.A1706T|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.A1699T|NDE1_ENST00000396354.1_Intron	p.A1699T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			36	5201	-			1699					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5095G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263530	0.59431	0.0	1.16E-4	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.56	5.56	0.83823	Myosin tail (1);	0.126644	0.52532	D	0.000063	T	0.72890	0.3517	L	0.41632	1.29	0.80722	D	1	P;P;P;P;P	0.44006	0.535;0.824;0.824;0.535;0.824	B;B;B;B;B	0.41466	0.229;0.358;0.358;0.229;0.358	T	0.71556	-0.4557	10	0.02654	T	1	.	18.0883	0.89464	0.0:1.0:0.0:0.0	.	1706;1699;1706;1699;1706	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	1699;1699;1706;1706;1706	ENSP00000300036:A1699T;ENSP00000345136:A1699T;ENSP00000379616:A1706T;ENSP00000407821:A1706T	ENSP00000300036:A1699T	A	-	1	0	MYH11	15720654	1.000000	0.71417	0.900000	0.35374	0.060000	0.15804	5.752000	0.68728	2.608000	0.88229	0.655000	0.94253	GCT		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		3	27	0	0	0	1	0	3	27					T	15813153	C	T	15813153	3	4	218	1	0	0	0	0	1	0	0	0	10031	768	27	1	882	1	MYH11	16	15813153	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		15813153	74541600	21	27308											
ZNF689	115509	broad.mit.edu	37	chr16	30616551	30616551	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagcggcgcccacagtctggGcaagggtaaggcttttttag	14	9	1	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:30616551G>C	ENST00000287461.3	-	3	874	c.537C>G	c.(535-537)tgC>tgG	p.C179W	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	179					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)			CACAGTCTGGGCAAGGGTAAG	0.612																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(535-537)tgC>tgG		zinc finger protein 689							74	79	77					16																	30616551		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616551G>C	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.537C>G	16.37:g.30616551G>C	ENSP00000287461:p.Cys179Trp					ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	p.C179W	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	874	-			179					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.537C>G	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.347913	0.24426	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	D	0.99974	-10.2	4.94	-0.447	0.12234	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000679	D	0.99975	0.9992	H	0.97682	4.055	0.44402	D	0.997319	D	0.89917	1.0	D	0.97110	1.0	D	0.95258	0.8366	10	0.87932	D	0	-20.3071	8.5722	0.33576	0.5211:0.0:0.4789:0.0	.	179	Q96CS4	ZN689_HUMAN	W	179	ENSP00000287461:C179W	ENSP00000287461:C179W	C	-	3	2	ZNF689	30524052	0.891000	0.30450	0.996000	0.52242	0.140000	0.21249	1.538000	0.36094	0.033000	0.15463	-0.252000	0.11476	TGC		0.612	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		21	90	0	0	0	1	0	21	90					C	30616551	G	C	30616551	3	2	218	1	0	0	0	0	1	0	0	0	18091	1195	42	4	969	4	ZNF689	16	30616551	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	14803398	30616551	59738202	22	27309											
ATP2A3	489	broad.mit.edu	37	chr17	3844416	3844416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcccgtgtaggccttgCccgccacgtcttccgtgtcc	12	18	1	0	rs539151467	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:3844416C>T	ENST00000352011.3	-	14	2003	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	650					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)		GTAGGCCTTGCCCGCCACGTC	0.687																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				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						c.(1948-1950)gGc>gAc		ATPase, Ca++ transporting, ubiquitous							49	44	46					17																	3844416		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844416C>T		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.1949G>A	17.37:g.3844416C>T	ENSP00000301387:p.Gly650Asp					ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR	p.G650D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	14	2099	-			650					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1949G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750072	0.49257	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64;-5.64;-5.64	4.16	4.16	0.48862	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.183599	0.48767	D	0.000169	D	0.97604	0.9215	L	0.50919	1.6	0.58432	D	0.999999	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.002;0.001	B;B;B;B;B;B	0.17433	0.004;0.011;0.018;0.011;0.018;0.011	D	0.95444	0.8528	10	0.45353	T	0.12	.	10.3227	0.43775	0.0:0.9083:0.0:0.0917	.	650;650;650;650;650;650	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	650	ENSP00000380236:G650D;ENSP00000301387:G650D;ENSP00000353072:G650D;ENSP00000380234:G650D;ENSP00000312577:G650D;ENSP00000380229:G650D	ENSP00000312577:G650D	G	-	2	0	ATP2A3	3791165	0.564000	0.26602	0.995000	0.50966	0.981000	0.71138	0.431000	0.21444	2.607000	0.88179	0.561000	0.74099	GGC		0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		4	76	0	0	0	1	0	4	76					T	3844416	C	T	3844416	3	4	218	1	0	0	0	0	1	0	0	0	1138	739	26	2	1293	2	ATP2A3	17	3844416	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		3844416	77350794	23	27310											
TP53	7157	broad.mit.edu	37	chr17	7576926	7576937	+	Splice_Site	DEL	GCTAGGAAAGAG	GCTAGGAAAGAG	-													agctggtgttgttgggcagtGctaggaaagaggcaaggaaa					rs397516439|rs587781702|rs34361146		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:7576926_7576937delGCTAGGAAAGAG	ENST00000269305.4	-	9	1109	c.920delCTCTTTCCTAGC	c.(919-921)gct>gt	p.A307del	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site_p.A307del|TP53_ENST00000455263.2_Splice_Site_p.A307del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site_p.A307del|TP53_ENST00000445888.2_Splice_Site_p.A307del	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	307	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (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.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)	GTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAG	0.5		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		58	Unknown(47)|Whole gene deletion(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(1)	lung(13)|upper_aerodigestive_tract(12)|breast(6)|ovary(6)|central_nervous_system(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|salivary_gland(1)|gastrointestinal_tract_(site_indeterminate)(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						c.e9-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576926_7576937delGCTAGGAAAGAG	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.920-1CTCTTTCCTAGC>-	17.37:g.7576926_7576937delGCTAGGAAAGAG		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)				TP53_ENST00000359597.4_Splice_Site_p.307_splice|TP53_ENST00000269305.4_Splice_Site_p.307_splice|TP53_ENST00000445888.2_Splice_Site_p.307_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site_p.307_splice	p.307_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1052	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	307		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Splice_Site	DEL	ENST00000269305.4	37	c.919_splice	CCDS11118.1																																																																																				0.5	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	In_Frame_Del	44	55						44	55	---	---	---	---	-	7576937	GCTAGGAAAGAG	-	7576926	8	5	218	1	0	1	0	1	0	0	1	0	16378	1333	46	0	362	0	TP53	17	7576926	Splice_Site	DEL	GCTAGGAAAGAG	TCGA-FG-A60L-01A-12D-A31L-08	3732510	7576926	73618284	24	27311											
MYH2	4620	broad.mit.edu	37	chr17	10428846	10428846	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcattctttatcttgaacaGctcagtgccaagggaacggg	12	9	3	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:10428846G>C	ENST00000245503.5	-	32	4843	c.4459C>G	c.(4459-4461)Ctg>Gtg	p.L1487V	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1487					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						ATCTTGAACAGCTCAGTGCCA	0.458																																						ENST00000245503.5																			0				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						c.(4459-4461)Ctg>Gtg		myosin, heavy chain 2, skeletal muscle, adult							75	79	77					17																	10428846		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428846G>C		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.4459C>G	17.37:g.10428846G>C	ENSP00000245503:p.Leu1487Val					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	p.L1487V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			32	4843	-			1487					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4459C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514004	0.44763	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84660	-1.88;-1.88	5.2	3.22	0.36961	Myosin tail (1);	0.000000	0.32314	U	0.006279	T	0.80454	0.4626	L	0.56340	1.77	0.43372	D	0.995469	B	0.06786	0.001	B	0.20384	0.029	T	0.74578	-0.3619	10	0.46703	T	0.11	.	8.9783	0.35950	0.2253:0.0:0.7747:0.0	.	1487	Q9UKX2	MYH2_HUMAN	V	1487	ENSP00000245503:L1487V;ENSP00000380367:L1487V	ENSP00000245503:L1487V	L	-	1	2	MYH2	10369571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.941000	0.56607	0.771000	0.33359	0.591000	0.81541	CTG		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		17	61	0	0	0	1	0	17	61					C	10428846	G	C	10428846	3	2	218	1	0	0	0	0	1	0	0	0	10035	962	34	4	1402	4	MYH2	17	10428846	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	2851920	10428846	70766364	25	27312											
DLGAP1	9229	broad.mit.edu	37	chr18	3499331	3499331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctccagcgagcgctccCggatcagcggcgcggggccc	15	17	2	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:3499331C>T	ENST00000315677.3	-	13	3381	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	929					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGAGCGCTCCCGGATCAGCGG	0.677																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(2785-2787)cGg>cAg		discs, large (Drosophila) homolog-associated protein 1							3	4	4					18																	3499331		1967	3888	5855	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3499331C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2786G>A	18.37:g.3499331C>T	ENSP00000316377:p.Arg929Gln					DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q	p.R929Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			13	3381	-		Colorectal(8;0.0257)	929					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2786G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182808	0.94885	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.3	5.3	0.74995	.	0.110327	0.64402	D	0.000017	T	0.57198	0.2037	M	0.83483	2.645	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	0.87578	0.998;0.994;0.998;0.994;0.994;0.989	T	0.63519	-0.6619	10	0.87932	D	0	-21.0737	18.9552	0.92655	0.0:1.0:0.0:0.0	.	613;625;635;637;929;627	B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490;O14490-2	.;.;.;.;DLGP1_HUMAN;.	Q	929;627;645;619;635;613;637	ENSP00000316377:R929Q;ENSP00000383011:R627Q;ENSP00000383014:R645Q;ENSP00000383013:R619Q;ENSP00000383019:R635Q;ENSP00000437817:R613Q;ENSP00000446312:R637Q	ENSP00000316377:R929Q	R	-	2	0	DLGAP1	3489331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.788000	0.62439	2.483000	0.83821	0.557000	0.71058	CGG		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			3	3	0	0	0	1	0	3	3					T	3499331	C	T	3499331	3	4	218	1	0	0	0	0	1	0	0	0	4559	652	23	1	151	1	DLGAP1	18	3499331	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		3499331	74577917	26	27313											
PTPRM	5797	broad.mit.edu	37	chr18	8379324	8379324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagcaactacatcaatGctgccctcatggacgtgagt	10	11	2	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:8379324G>A	ENST00000332175.8	+	26	4770	c.3733G>A	c.(3733-3735)Gct>Act	p.A1245T	PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1245	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)				CTACATCAATGCTGCCCTCAT	0.607																																						ENST00000332175.8																			0				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						c.(3733-3735)Gct>Act		protein tyrosine phosphatase, receptor type, M							100	76	84					18																	8379324		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8379324G>A	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.3733G>A	18.37:g.8379324G>A	ENSP00000331418:p.Ala1245Thr					PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T	p.A1245T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			26	4770	+		Colorectal(10;0.234)	1245			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3733G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	36	5.820734	0.96989	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.997;0.995	D	0.91761	0.5420	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1032;1258;1245	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	1245;1259;1183;1032	ENSP00000331418:A1245T;ENSP00000382933:A1259T;ENSP00000382927:A1183T;ENSP00000387608:A1032T	ENSP00000331418:A1245T	A	+	1	0	PTPRM	8369324	1.000000	0.71417	0.334000	0.25495	0.889000	0.51656	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.607	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			26	41	0	0	0	1	0	26	41					A	8379324	G	A	8379324	3	1	218	1	0	0	0	0	1	0	0	0	12806	1319	46	2	3882	2	PTPRM	18	8379324	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	4879993	8379324	69697924	27	27314											
LIPG	9388	broad.mit.edu	37	chr18	47095873	47095873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggagcgcacgtggccGggtatgcaggcaacttcgtg	16	12	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:47095873G>A	ENST00000261292.4	+	4	804	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LIPG_ENST00000577628.1_Missense_Mutation_p.G212R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000427224.2_Missense_Mutation_p.G176R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	176					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCACGTGGCCGGGTATGCAGG	0.542																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(526-528)Ggg>Agg		lipase, endothelial							60	50	53					18																	47095873		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47095873G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.526G>A	18.37:g.47095873G>A	ENSP00000261292:p.Gly176Arg					LIPG_ENST00000427224.2_Missense_Mutation_p.G176R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000577628.1_Missense_Mutation_p.G212R	p.G176R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			4	804	+			176					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.526G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263463	0.80358	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.95918	-3.85;-3.85	5.02	5.02	0.67125	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.99498	4.595	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	0.99320	1.0906	10	0.87932	D	0	-22.9298	18.3522	0.90342	0.0:0.0:1.0:0.0	.	176;176;176	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	R	176	ENSP00000261292:G176R;ENSP00000387978:G176R	ENSP00000261292:G176R	G	+	1	0	LIPG	45349871	1.000000	0.71417	0.930000	0.37139	0.284000	0.27059	9.804000	0.99143	2.334000	0.79466	0.561000	0.74099	GGG		0.542	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		13	39	0	0	0	1	0	13	39					A	47095873	G	A	47095873	3	1	218	1	0	0	0	0	1	0	0	0	8823	1116	39	1	540	1	LIPG	18	47095873	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	38716549	47095873	30981375	28	27315											
CENPB	1059	broad.mit.edu	37	chr20	3766523	3766524	+	Frame_Shift_Ins	INS	-	-	T													cgcggcctggtcgggcaggaINSagtcgtaccatagactggtc					rs369656252		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:3766523_3766524insT	ENST00000379751.4	-	1	813_814	c.607_608insA	c.(607-609)ttcfs	p.F203fs	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	203					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GTCGGGCAGGAAGTCGTACCAT	0.708																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(607-609)cctfs		centromere protein B, 80kDa																																				SO:0001589	frameshift_variant	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766523_3766524insT	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.607_608insA	20.37:g.3766523_3766524insT	ENSP00000369075:p.Phe203fs						p.P203fs	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	813_814	-			203					Q96EI4	Frame_Shift_Ins	INS	ENST00000379751.4	37	c.607_608insA	CCDS13064.1																																																																																				0.708	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		51	101						51	101	---	---	---	---	T	3766524	-	T	3766523	7	5	218	1	0	1	1	0	0	0	0	0	3227	246	9	0	1195	0	CENPB	20	3766523	Frame_Shift_Ins	INS	-	TCGA-FG-A60L-01A-12D-A31L-08		3766523	59258997	29	27316											
KIF16B	55614	broad.mit.edu	37	chr20	16359697	16359697	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcctttttcctcactttttCctcctgacgtgcaatgttgg	6	12	1	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:16359697C>A	ENST00000354981.2	-	19	3107	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	984	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|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)|plus-end-directed microtubule motor activity (GO:0008574)	p.E984K(2)|p.E984*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCACTTTTTCCTCCTGACGT	0.512																																						ENST00000354981.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.E984K(2)|p.E984*(1)	lung(2)|prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2950-2952)Gaa>Taa		kinesin family member 16B							157	156	156					20																	16359697		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359697C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2950G>T	20.37:g.16359697C>A	ENSP00000347076:p.Glu984*					KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984*	p.E984*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3107	-			984			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.2950G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	54	21.629552	0.99942	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.6844	0.95976	0.0:1.0:0.0:0.0	.	.	.	.	X	984;984;828;210;984	.	ENSP00000347076:E984X	E	-	1	0	KIF16B	16307697	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	5.724000	0.68500	2.761000	0.94854	0.655000	0.94253	GAA		0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		61	110	1	0	2.14255e-21	1	2.24706e-21	61	110					A	16359697	C	A	16359697	4	1	218	1	0	0	0	0	0	1	0	0	8278	864	30	4	1035	4	KIF16B	20	16359697	Nonsense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	12593174	16359697	46665823	30	27317											
CDH22	64405	broad.mit.edu	37	chr20	44803600	44803600	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaggcttcggtgtcctGctcgccgccgccttcgtcgt	13	15	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:44803600G>A	ENST00000372262.3	-	11	2432	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678*	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	678					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGTGTCCTGCTCGCCGCCG	0.677																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(2032-2034)Cag>Tag		cadherin 22, type 2							34	35	34					20																	44803600		2148	4256	6404	SO:0001587	stop_gained	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803600G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2032C>T	20.37:g.44803600G>A	ENSP00000361336:p.Gln678*					CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678*	p.Q678*	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			11	2432	-		Myeloproliferative disorder(115;0.0122)	678					B9EGK7|O43205	Nonsense_Mutation	SNP	ENST00000372262.3	37	c.2032C>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	41	8.788506	0.98954	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	.	.	.	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9004	0.70675	0.0:0.0:1.0:0.0	.	.	.	.	X	678	.	ENSP00000361336:Q678X	Q	-	1	0	CDH22	44237007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.862000	0.39448	2.082000	0.62665	0.563000	0.77884	CAG		0.677	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		13	33	0	0	0	1	0	13	33					A	44803600	G	A	44803600	4	1	218	1	0	0	0	0	0	1	0	0	3107	1328	46	2	458	2	CDH22	20	44803600	Nonsense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	28443903	44803600	18221920	31	27318											
ATP9A	10079	broad.mit.edu	37	chr20	50346470	50346470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccccagccagacagtgCggggcctggcctcccctcca	13	18	0	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:50346470C>T	ENST00000338821.5	-	2	380	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	39					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						CCAGACAGTGCGGGGCCTGGC	0.587																																						ENST00000338821.5																			0				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						c.(115-117)cGc>cAc		ATPase, class II, type 9A							103	96	98					20																	50346470		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50346470C>T	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.116G>A	20.37:g.50346470C>T	ENSP00000342481:p.Arg39His					ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H|ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H	p.R39H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			2	380	-			39					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.116G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433866	0.96150	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.62639	0.01;0.01;0.01	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	M	0.87758	2.905	0.35640	D	0.810913	P;D	0.89917	0.944;1.0	P;D	0.91635	0.815;0.999	D	0.88486	0.3072	10	0.87932	D	0	-29.3837	19.2362	0.93861	0.0:1.0:0.0:0.0	.	39;39	O75110-2;O75110	.;ATP9A_HUMAN	H	24;39;39	ENSP00000309086:R24H;ENSP00000342481:R39H;ENSP00000385875:R39H	ENSP00000309086:R24H	R	-	2	0	ATP9A	49779877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.257000	0.78362	2.608000	0.88229	0.563000	0.77884	CGC		0.587	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		4	145	0	0	0	1	0	4	145					T	50346470	C	T	50346470	3	4	218	1	0	0	0	0	1	0	0	0	1198	768	27	1	3135	1	ATP9A	20	50346470	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	5542870	50346470	12679050	32	27319											
PRDM15	63977	broad.mit.edu	37	chr21	43274913	43274913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagcacacggggtgcccGtccttctggaacacctgaag	12	13	1	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr21:43274913G>A	ENST00000269844.3	-	12	1508	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	PRDM15_ENST00000398548.1_Silent_p.D137D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000422911.1_Silent_p.D137D|PRDM15_ENST00000538201.1_Silent_p.D100D	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	466	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						CGGGGTGCCCGTCCTTCTGGA	0.622																																						ENST00000422911.1																			0				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						c.(409-411)gaC>gaT		PR domain containing 15							36	33	34					21																	43274913		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43274913G>A	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.1398C>T	21.37:g.43274913G>A						PRDM15_ENST00000269844.3_Silent_p.D466D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000538201.1_Silent_p.D100D|PRDM15_ENST00000398548.1_Silent_p.D137D	p.D137D			P57071	PRD15_HUMAN			5	512	-			466					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.411C>T	CCDS13676.1																																																																																				0.622	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		13	42	0	0	0	1	0	13	42					A	43274913	G	A	43274913	2	1	218	1	0	0	0	0	0	0	0	1	12456	1136	40	1		1	PRDM15	21	43274913	Silent	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		43274913	4854982	33	27320											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51041583	51041583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctccccgatttcccttctCctagcacctgggcccctggg	9	18	1	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr22:51041583C>T	ENST00000008876.5	+	1	22	c.22C>T	c.(22-24)Cct>Tct	p.P8S	MAPK8IP2_ENST00000399908.2_5'UTR|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	0					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTCCCTTCTCCTAGCACCTG	0.617																																						ENST00000008876.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(22-24)Cct>Tct		mitogen-activated protein kinase 8 interacting protein 2							38	41	40					22																	51041583		1985	4147	6132	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51041583C>T	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000008876.5:c.22C>T	22.37:g.51041583C>T	ENSP00000008876:p.Pro8Ser					MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron	p.P8S			Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	22	+		all_cancers(38;8.8e-15)|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)	422					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000008876.5	37	c.22C>T		.	.	.	.	.	.	.	.	.	.	C	10.39	1.338155	0.24253	.	.	ENSG00000008735	ENST00000008876	T	0.19394	2.15	4.84	-1.58	0.08479	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28332	-1.0047	8	0.87932	D	0	.	8.127	0.31005	0.0:0.4494:0.0:0.5506	.	8	E7EQG6	.	S	8	ENSP00000008876:P8S	ENSP00000008876:P8S	P	+	1	0	MAPK8IP2	49388449	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.520000	0.06252	-0.377000	0.07930	0.555000	0.69702	CCT		0.617	MAPK8IP2-201	KNOWN	basic	protein_coding	protein_coding		NM_012324		10	18	0	0	0	1	0	10	18					T	51041583	C	T	51041583	3	4	218	1	0	0	0	0	1	0	0	0	9285	855	30	2	203	2	MAPK8IP2	22	51041583	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		51041583	262983	34	27321											
DKC1	1736	broad.mit.edu	37	chrX	153994501	153994501	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccattccaggacaggtttcAttaatcttgacaagccctct	6	12	3	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chrX:153994501A>C	ENST00000369550.5	+	5	484	c.274A>C	c.(274-276)Att>Ctt	p.I92L	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	92					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACAGGTTTCATTAATCTTGA	0.413									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(274-276)Att>Ctt		dyskeratosis congenita 1, dyskerin							88	87	88					X																	153994501		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994501A>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.274A>C	X.37:g.153994501A>C	ENSP00000358563:p.Ile92Leu						p.I92L	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	484	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		92					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.274A>C	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.74|19.74	3.883067|3.883067	0.72410|0.72410	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.94138	.|-3.36;-3.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Dyskerin-like (1);Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93802|0.93802	0.8018|0.8018	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.18310	.|0.012;0.027	.|B;B	.|0.29716	.|0.106;0.106	D|D	0.91625|0.91625	0.5314|0.5314	5|10	.|0.62326	.|D	.|0.03	-22.2182|-22.2182	14.088|14.088	0.64971|0.64971	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|92;92	.|A8MUT5;O60832	.|.;DKC1_HUMAN	P|L	77|92	.|ENSP00000358563:I92L;ENSP00000400542:I92L	.|ENSP00000358563:I92L	H|I	+|+	2|1	0|0	DKC1|DKC1	153647695|153647695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	8.806000|8.806000	0.91930|0.91930	2.008000|2.008000	0.58898|0.58898	0.417000|0.417000	0.27973|0.27973	CAT|ATT		0.413	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		4	107	0	0	0	1	0	4	107					C	153994501	A	C	153994501	3	2	218	1	0	0	0	0	1	0	0	0	4542	217	8	5	292	5	DKC1	23	153994501	Missense_Mutation	SNP	A	TCGA-FG-A60L-01A-12D-A31L-08		153994501	1276059	35	27322											
AADACL3	126767	broad.mit.edu	37	chr1	12785441	12785441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttacaaaccccttcGtttcaacagaggaaaaacat	6	10	1	1	rs375207083		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:12785441G>A	ENST00000359318.5	+	4	736	c.531G>A	c.(529-531)tcG>tcA	p.S177S	AADACL3_ENST00000332530.3_Silent_p.S107S	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	177							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCCCTTCGTTTCAACAGA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.0					ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(319-321)tcG>tcA		arylacetamide deacetylase-like 3		G	,	1,3753		0,1,1876	182	172	175		321,531	1.4	0.2	1		175	0,8202		0,0,4101	no	coding-synonymous,coding-synonymous	AADACL3	NM_001103169.1,NM_001103170.1	,	0,1,5977	AA,AG,GG		0.0,0.0266,0.0084	,	107/281,177/351	12785441	1,11955	1877	4101	5978	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12785441G>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.531G>A	1.37:g.12785441G>A						AADACL3_ENST00000359318.5_Silent_p.S177S	p.S107S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	547	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	177					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.321G>A	CCDS41253.1																																																																																				0.488	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		47	154	0	0	0	1	0	47	154					A	12785441	G	A	12785441	2	1	219	1	0	0	0	0	0	0	0	1	12	1132	40	1		1	AADACL3	1	12785441	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		12785441	236465180	1	27323											
ST3GAL3	6487	broad.mit.edu	37	chr1	44364853	44364853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcctccgctgccgcCgctgcatcatcgtgggcaat	10	18	2	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:44364853C>T	ENST00000361392.4	+	8	652	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R228C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000461375.1_3'UTR	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	159					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)				CCGCTGCCGCCGCTGCATCAT	0.597																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(682-684)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							99	90	93					1																	44364853		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44364853C>T	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.475C>T	1.37:g.44364853C>T	ENSP00000355341:p.Arg159Cys					ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R159C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C	p.R228C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			9	859	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	159					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	ENST00000361392.4	37	c.682C>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661595	0.88154	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.72	5.72	0.89469	.	0.051499	0.85682	D	0.000000	T	0.70456	0.3226	M	0.91038	3.17	0.80722	D	1	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	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.97;0.984;0.995;0.989;0.984;0.999;0.97;0.988;0.993;0.97;0.993;0.983;0.993;0.987	T	0.76804	-0.2824	10	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	159;112;143;158;143;158;128;159;197;143;213;159;228;174	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	159;143;228;213;197;128;159;143;174;159;228;158;158;159;213;197;143;143;159;128	ENSP00000355341:R159C;ENSP00000354748:R143C;ENSP00000262915:R228C;ENSP00000361450:R213C;ENSP00000316999:R197C;ENSP00000361449:R128C;ENSP00000330463:R159C;ENSP00000335633:R143C;ENSP00000317192:R174C;ENSP00000361444:R159C;ENSP00000354657:R228C;ENSP00000361442:R158C;ENSP00000361441:R158C;ENSP00000361440:R159C;ENSP00000361443:R213C;ENSP00000361447:R197C;ENSP00000434876:R143C;ENSP00000432682:R143C;ENSP00000432965:R159C;ENSP00000329755:R128C	ENSP00000262915:R228C	R	+	1	0	ST3GAL3	44137440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.664000	0.61540	2.711000	0.92665	0.655000	0.94253	CGC		0.597	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		47	6	0	0	0	1	0	47	6					T	44364853	C	T	44364853	3	4	219	1	0	0	0	0	1	0	0	0	15215	652	23	1	712	1	ST3GAL3	1	44364853	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	31579412	44364853	204885768	2	27324											
SLC9A11	284525	broad.mit.edu	37	chr1	173526563	173526563	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactcctttaattccagaCcacgtgattacaactcccca	3	14	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:173526563C>T	ENST00000367714.3	-	10	1553	c.1131G>A	c.(1129-1131)tgG>tgA	p.W377*	SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.W275*|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	377					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TAATTCCAGACCACGTGATTA	0.383																																						ENST00000367714.3																			0											c.(1129-1131)tgG>tgA		solute carrier family 9, member C2 (putative)							138	149	146					1																	173526563		2203	4300	6503	SO:0001587	stop_gained	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526563C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1131G>A	1.37:g.173526563C>T	ENSP00000356687:p.Trp377*					SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.W275*|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	p.W377*	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1553	-			377					Q86UF3	Nonsense_Mutation	SNP	ENST00000367714.3	37	c.1131G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	37	6.366355	0.97507	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.57	3.51	0.40186	.	0.125962	0.36854	N	0.002362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1968	11.0968	0.48150	0.2666:0.7334:0.0:0.0	.	.	.	.	X	377;275	.	ENSP00000356687:W377X	W	-	3	0	SLC9A11	171793186	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	1.353000	0.34045	2.630000	0.89119	0.591000	0.81541	TGG		0.383	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		92	111	0	0	0	1	0	92	111					T	173526563	C	T	173526563	4	4	219	1	0	0	0	0	0	1	0	0	14711	508	18	2	2319	2	SLC9A11	1	173526563	Nonsense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	129161710	173526563	75724058	3	27325											
PAPPA2	60676	broad.mit.edu	37	chr1	176525560	176525560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgcaagaaatccttGgttgagagggaacacctgaa	12	8	0	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:176525560G>A	ENST00000367662.3	+	2	1266	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PAPPA2_ENST00000367661.3_Silent_p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	34					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						AGAAATCCTTGGTTGAGAGGG	0.527																																						ENST00000367662.3																			0				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						c.(100-102)ttG>ttA		pappalysin 2							93	93	93					1																	176525560		2010	4196	6206	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525560G>A	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.102G>A	1.37:g.176525560G>A						PAPPA2_ENST00000367661.3_Silent_p.L34L	p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1266	+			34					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.102G>A	CCDS41438.1																																																																																				0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			41	111	0	0	0	1	0	41	111					A	176525560	G	A	176525560	2	1	219	1	0	0	0	0	0	0	0	1	11433	1339	47	2		2	PAPPA2	1	176525560	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	2998997	176525560	72725061	4	27326											
HADHA	3030	broad.mit.edu	37	chr2	26435460	26435460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagattcacagagataaccGgcatcactcccttgctcaat	7	12	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:26435460G>A	ENST00000380649.3	-	10	1083	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HADHA_ENST00000457468.2_Silent_p.A231A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	318					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGATAACCGGCATCACTCC	0.358																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(952-954)gcC>gcT		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						124	115	118					2																	26435460		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26435460G>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.954C>T	2.37:g.26435460G>A						HADHA_ENST00000457468.2_Silent_p.A231A	p.A318A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			10	1083	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		318					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.954C>T	CCDS1721.1																																																																																				0.358	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		6	121	0	0	0	1	0	6	121					A	26435460	G	A	26435460	2	1	219	1	0	0	0	0	0	0	0	1	6943	1103	39	1		1	HADHA	2	26435460	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		26435460	216763913	5	27327											
XDH	7498	broad.mit.edu	37	chr2	31571808	31571808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttattccaaacttggtgGgaattatgcacaatcctctc	7	10	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:31571808G>A	ENST00000379416.3	-	27	3056	c.3008C>T	c.(3007-3009)cCc>cTc	p.P1003L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1003					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)	AAACTTGGTGGGAATTATGCA	0.383																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(3007-3009)cCc>cTc		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						108	108	108					2																	31571808		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31571808G>A	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.3008C>T	2.37:g.31571808G>A	ENSP00000368727:p.Pro1003Leu						p.P1003L	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			27	3056	-	Acute lymphoblastic leukemia(172;0.155)		1003					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3008C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726718	0.89298	.	.	ENSG00000158125	ENST00000379416	T	0.39056	1.1	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76743	-0.2847	10	0.87932	D	0	.	19.7879	0.96445	0.0:0.0:1.0:0.0	.	1003	P47989	XDH_HUMAN	L	1003	ENSP00000368727:P1003L	ENSP00000368727:P1003L	P	-	2	0	XDH	31425312	1.000000	0.71417	0.983000	0.44433	0.720000	0.41350	9.278000	0.95766	2.771000	0.95319	0.561000	0.74099	CCC		0.383	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		4	58	0	0	0	1	0	4	58					A	31571808	G	A	31571808	3	1	219	1	0	0	0	0	1	0	0	0	17423	1232	43	2	1033	2	XDH	2	31571808	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	5136348	31571808	211627565	6	27328											
AFTPH	54812	broad.mit.edu	37	chr2	64796313	64796313	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcggctcccatagcaacaaGaagcttttgtcctccttggg	11	12	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:64796313G>A	ENST00000422803.1	+	4	2489	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000238855.7_Silent_p.K725K			Q6ULP2	AFTIN_HUMAN	aftiphilin	725					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAGCAACAAGAAGCTTTTGT	0.433																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2173-2175)aaG>aaA		aftiphilin							152	144	147					2																	64796313		2203	4300	6503	SO:0001819	synonymous_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64796313G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2175G>A	2.37:g.64796313G>A						AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000238855.7_Silent_p.K725K	p.K725K			Q6ULP2	AFTIN_HUMAN			4	2489	+			725					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37	c.2175G>A																																																																																					0.433	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		10	106	0	0	0	1	0	10	106					A	64796313	G	A	64796313	2	1	219	1	0	0	0	0	0	0	0	1	364	933	33	2		2	AFTPH	2	64796313	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	33224505	64796313	178403060	7	27329											
EGR4	1961	broad.mit.edu	37	chr2	73519641	73519641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggacccggcagcaaggcAtcggaccccgcaggaaaagg	16	13	0	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:73519641A>G	ENST00000545030.1	-	2	788	c.714T>C	c.(712-714)gaT>gaC	p.D238D	EGR4_ENST00000436467.2_Silent_p.D135D	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	238	Pro-rich.				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						GCAGCAAGGCATCGGACCCCG	0.682																																						ENST00000436467.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(403-405)gaT>gaC		early growth response 4							17	21	20					2																	73519641		2197	4289	6486	SO:0001819	synonymous_variant	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519641A>G		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.714T>C	2.37:g.73519641A>G						EGR4_ENST00000545030.1_Silent_p.D238D	p.D135D			B7ZKU3	B7ZKU3_HUMAN			2	792	-			134					B2RAE3|G3V1T5|Q2Z1P5	Silent	SNP	ENST00000545030.1	37	c.405T>C	CCDS1925.2																																																																																				0.682	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		5	15	0	0	0	1	0	5	15					G	73519641	A	G	73519641	2	3	219	1	0	0	0	0	0	0	0	1	4974	214	8	3		3	EGR4	2	73519641	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	8723328	73519641	169679732	8	27330											
R3HDM1	23518	broad.mit.edu	37	chr2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccgccacctggtgggGggatggtgatgatgcagctc	15	12	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							poly(A) RNA binding (GO:0044822)	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			1	Substitution - Missense(1)	p.G829R(1)	large_intestine(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2485-2487)Ggg>Agg		R3H domain containing 1							95	92	93					2																	136467655		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467655G>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2485G>A	2.37:g.136467655G>A	ENSP00000264160:p.Gly829Arg		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R	p.G829R	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2855	+			829					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2485G>A	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559978|4.559978	0.86335|0.86335	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T|T;T;T;T;T	0.45668|0.72394	0.89|-0.49;0.4;-0.52;-0.65;0.4	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.121195|0.121195	0.56097|0.56097	D|D	0.000031|0.000031	D|D	0.83478|0.83478	0.5263|0.5263	M|M	0.66939|0.66939	2.045|2.045	0.47659|0.47659	D|D	0.999484|0.999484	.|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;0.999	D|D	0.85041|0.85041	0.0923|0.0923	8|10	0.46703|0.72032	T|D	0.11|0.01	-8.6574|-8.6574	18.5376|18.5376	0.91015|0.91015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|701;830;774;829	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	E|R	552|701;829;700;774;830	ENSP00000403406:G552E|ENSP00000386457:G701R;ENSP00000264160:G829R;ENSP00000331396:G700R;ENSP00000386877:G774R;ENSP00000387010:G830R	ENSP00000403406:G552E|ENSP00000264160:G829R	G|G	+|+	2|1	0|0	R3HDM1|R3HDM1	136184125|136184125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	5.841000|5.841000	0.69409|0.69409	2.460000|2.460000	0.83146|0.83146	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		44	58	0	0	0	1	0	44	58					A	136467655	G	A	136467655	3	1	219	1	0	0	0	0	1	0	0	0	12887	1232	43	2	2563	2	R3HDM1	2	136467655	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	62948014	136467655	106731718	9	27331											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	46	0	0	0	1	0	26	46					T	209113112	C	T	209113112	3	4	219	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	72645457	209113112	34086261	10	27332											
IRS1	3667	broad.mit.edu	37	chr2	227663384	227663384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaagcgtttgtgcatgCtcttgggtttgcgcaggtag	15	7	1	1	rs557991154		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:227663384C>T	ENST00000305123.5	-	1	1091	c.71G>A	c.(70-72)aGc>aAc	p.S24N	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	24	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		TTTGTGCATGCTCTTGGGTTT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15775	0.001		0.0	False		,,,				2504	0.0					ENST00000305123.4																			0				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						c.(70-72)aGc>aAc		insulin receptor substrate 1							37	43	41					2																	227663384		2203	4299	6502	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663384C>T		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.71G>A	2.37:g.227663384C>T	ENSP00000304895:p.Ser24Asn						p.S24N	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1091	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	24			Mediates interaction with PHIP (By similarity).|PH.			Missense_Mutation	SNP	ENST00000305123.5	37	c.71G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006156	0.54361	.	.	ENSG00000169047	ENST00000305123	T	0.71222	-0.55	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	T	0.76069	0.3936	L	0.41236	1.265	0.44395	D	0.997305	D	0.61697	0.99	P	0.60173	0.87	T	0.72707	-0.4212	10	0.28530	T	0.3	-32.4737	18.4954	0.90863	0.0:1.0:0.0:0.0	.	24	P35568	IRS1_HUMAN	N	24	ENSP00000304895:S24N	ENSP00000304895:S24N	S	-	2	0	IRS1	227371628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.904000	0.56325	2.526000	0.85167	0.561000	0.74099	AGC		0.657	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	99	0	0	0	1	0	4	99					T	227663384	C	T	227663384	3	4	219	1	0	0	0	0	1	0	0	0	7840	797	28	2	3661	2	IRS1	2	227663384	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	18550272	227663384	15535989	11	27333											
COL6A3	1293	broad.mit.edu	37	chr2	238287314	238287314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttcctccacacctccaCtaacatatgtggttaggggc	8	13	0	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:238287314C>T	ENST00000295550.4	-	6	2914	c.2462G>A	c.(2461-2463)aGt>aAt	p.S821N	COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	821	Nonhelical region.				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)		CACACCTCCACTAACATATGT	0.537																																						ENST00000295550.4																			0				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						c.(2461-2463)aGt>aAt		collagen, type VI, alpha 3							93	94	94					2																	238287314		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287314C>T	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.2462G>A	2.37:g.238287314C>T	ENSP00000295550:p.Ser821Asn					COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron	p.S821N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	6	2914	-		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)	821			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2462G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576652	0.65878	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	D;D;D;D;T;T	0.88741	-2.42;-2.4;-2.39;-2.39;0.15;0.01	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000018	D	0.92932	0.7751	L	0.60455	1.87	0.80722	D	1	P;D;D;D	0.76494	0.892;0.993;0.999;0.994	P;D;D;P	0.72338	0.63;0.926;0.977;0.795	D	0.90575	0.4525	10	0.24483	T	0.36	.	19.1774	0.93607	0.0:1.0:0.0:0.0	.	414;615;615;821	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	N	821;620;615;615;615;414	ENSP00000295550:S821N;ENSP00000315609:S620N;ENSP00000315873:S615N;ENSP00000386844:S615N;ENSP00000375861:S615N;ENSP00000375860:S414N	ENSP00000295550:S821N	S	-	2	0	COL6A3	237952053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.595000	0.87683	0.655000	0.94253	AGT		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	175	0	0	0	1	0	6	175					T	238287314	C	T	238287314	3	4	219	1	0	0	0	0	1	0	0	0	3701	565	20	2	7274	2	COL6A3	2	238287314	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	10623930	238287314	4912059	12	27334											
CNTN6	27255	broad.mit.edu	37	chr3	1427358	1427358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattagagtcagtggaaatGtcacaaccaaaaacatcacg	7	8	3	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:1427358G>A	ENST00000446702.2	+	20	3208	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I			Q9UQ52	CNTN6_HUMAN	contactin 6	861	Fibronectin type-III 3. {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)		CAGTGGAAATGTCACAACCAA	0.418																																						ENST00000446702.2																			0				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						c.(2581-2583)Gtc>Atc		contactin 6							166	174	171					3																	1427358		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427358G>A	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.2581G>A	3.37:g.1427358G>A	ENSP00000407822:p.Val861Ile					CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I	p.V861I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	3208	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	861			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2581G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886373	0.33348	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.57273	0.41;0.41;0.41	5.75	-1.4	0.08968	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.363784	0.23369	N	0.048937	T	0.35248	0.0925	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.17098	0.017	T	0.20806	-1.0264	10	0.38643	T	0.18	.	8.1467	0.31115	0.4958:0.1058:0.3984:0.0	.	861	Q9UQ52	CNTN6_HUMAN	I	861;789;861	ENSP00000407822:V861I;ENSP00000442791:V789I;ENSP00000341882:V861I	ENSP00000341882:V861I	V	+	1	0	CNTN6	1402358	0.001000	0.12720	0.773000	0.31616	0.974000	0.67602	-0.450000	0.06803	-0.110000	0.12022	-0.143000	0.13931	GTC		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		21	171	0	0	0	1	0	21	171					A	1427358	G	A	1427358	3	1	219	1	0	0	0	0	1	0	0	0	3645	1377	48	2	2655	2	CNTN6	3	1427358	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		1427358	196595072	13	27335											
TRIM71	131405	broad.mit.edu	37	chr3	32932723	32932723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacaaggacaatcatcGcatccagatcttcacgttcg	9	12	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:32932723G>A	ENST00000383763.5	+	4	2090	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	676					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAATCATCGCATCCAGATC	0.592																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2026-2028)cGc>cAc		tripartite motif containing 71, E3 ubiquitin protein ligase							55	60	58					3																	32932723		2117	4234	6351	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932723G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2027G>A	3.37:g.32932723G>A	ENSP00000373272:p.Arg676His						p.R676H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2090	+			676						Missense_Mutation	SNP	ENST00000383763.5	37	c.2027G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387016	0.82902	.	.	ENSG00000206557	ENST00000383763	T	0.78924	-1.22	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94616	0.7809	10	0.66056	D	0.02	-44.6621	18.4419	0.90669	0.0:0.0:1.0:0.0	.	676	Q2Q1W2	LIN41_HUMAN	H	676	ENSP00000373272:R676H	ENSP00000373272:R676H	R	+	2	0	TRIM71	32907727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.724000	0.98775	2.708000	0.92522	0.650000	0.86243	CGC		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		8	88	0	0	0	1	0	8	88					A	32932723	G	A	32932723	3	1	219	1	0	0	0	0	1	0	0	0	16541	1087	38	1	2041	1	TRIM71	3	32932723	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	31505365	32932723	165089707	14	27336											
ARHGEF3	50650	broad.mit.edu	37	chr3	56771305	56771305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttccaagtaaagaaGccgctctttataatagcggc	8	11	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:56771305G>A	ENST00000296315.3	-	8	1117	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L323F	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	317	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 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)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAGTAAAGAAGCCGCTCTTTA	0.428																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(967-969)Ctt>Ttt		Rho guanine nucleotide exchange factor (GEF) 3							68	70	69					3																	56771305		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56771305G>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.949C>T	3.37:g.56771305G>A	ENSP00000296315:p.Leu317Phe					ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F	p.L323F	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	8	1510	-			317			PH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.967C>T	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593619	0.86953	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.33216	1.5;1.43;1.42;1.44;1.43;1.6	5.93	5.93	0.95920	Dbl homology (DH) domain (1);Pleckstrin homology domain (2);	0.063289	0.64402	D	0.000005	T	0.51702	0.1690	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D;D	0.63046	0.986;0.986;0.992;0.986;0.992;0.986;0.992	P;P;P;P;P;P;P	0.60789	0.699;0.76;0.879;0.699;0.842;0.699;0.842	T	0.50759	-0.8790	10	0.54805	T	0.06	-8.5638	13.531	0.61621	0.0709:0.0:0.9291:0.0	.	323;288;115;317;349;317;323	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	F	317;349;323;323;288;317	ENSP00000296315:L317F;ENSP00000341071:L349F;ENSP00000410922:L323F;ENSP00000420420:L323F;ENSP00000418826:L288F;ENSP00000417986:L317F	ENSP00000296315:L317F	L	-	1	0	ARHGEF3	56746345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	2.821000	0.97095	0.555000	0.69702	CTT		0.428	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		14	71	0	0	0	1	0	14	71					A	56771305	G	A	56771305	3	1	219	1	0	0	0	0	1	0	0	0	904	971	34	2	643	2	ARHGEF3	3	56771305	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	23838582	56771305	141251125	15	27337											
CNTN3	5067	broad.mit.edu	37	chr3	74347288	74347288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtaaccccaagagggcGgaaagcaacaacatacccaa	11	11	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:74347288G>A	ENST00000263665.6	-	17	2248	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	741	Fibronectin type-III 2. {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)		CCAAGAGGGCGGAAAGCAACA	0.463																																						ENST00000263665.6																			0				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						c.(2221-2223)Cgc>Tgc		contactin 3 (plasmacytoma associated)							163	158	159					3																	74347288		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74347288G>A	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.2221C>T	3.37:g.74347288G>A	ENSP00000263665:p.Arg741Cys						p.R741C	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	17	2248	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	741			Fibronectin type-III 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2221C>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892614	0.72524	.	.	ENSG00000113805	ENST00000263665	T	0.59364	0.27	5.79	4.84	0.62591	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84082	0.0385	10	0.87932	D	0	.	17.5816	0.87970	0.0:0.0:0.8682:0.1318	.	741	Q9P232	CNTN3_HUMAN	C	741	ENSP00000263665:R741C	ENSP00000263665:R741C	R	-	1	0	CNTN3	74429978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.226000	0.51254	2.733000	0.93635	0.655000	0.94253	CGC		0.463	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		14	86	0	0	0	1	0	14	86					A	74347288	G	A	74347288	3	1	219	1	0	0	0	0	1	0	0	0	3642	1116	39	1	889	1	CNTN3	3	74347288	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	17575983	74347288	123675142	16	27338											
PLCXD2	257068	broad.mit.edu	37	chr3	111427010	111427010	+	Frame_Shift_Del	DEL	T	T	-													gatctacttcatccatgggcTttttggcatcaaggtctggg							TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:111427010delT	ENST00000477665.1	+	2	725	c.401delT	c.(400-402)cttfs	p.L134fs	PLCXD2_ENST00000393934.3_Frame_Shift_Del_p.L134fs	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	134	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCATGGGCTTTTTGGCATC	0.502																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(400-402)ctfs		phosphatidylinositol-specific phospholipase C, X domain containing 2							128	125	126					3																	111427010		2203	4300	6503	SO:0001589	frameshift_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111427010delT	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.401delT	3.37:g.111427010delT	ENSP00000420686:p.Leu134fs					PLCXD2_ENST00000477665.1_Frame_Shift_Del_p.L134fs	p.L134fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	971	+			134			PI-PLC X-box.		Q96N12	Frame_Shift_Del	DEL	ENST00000477665.1	37	c.401delT	CCDS54619.1																																																																																				0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		7	219						7	219	---	---	---	---	-	111427010	T	-	111427010	7	5	219	1	0	1	0	1	0	0	0	0	12042	1609	56	0	407	0	PLCXD2	3	111427010	Frame_Shift_Del	DEL	T	TCGA-FG-A6IZ-01A-11D-A31L-08	37079722	111427010	86595420	17	27339											
KTELC1	56983	broad.mit.edu	37	chr3	119187888	119187888	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatggagtggtgggctagctCgccgcttcggctctggctgc	17	11	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:119187888C>G	ENST00000295588.4	+	1	104	c.20C>G	c.(19-21)tCg>tGg	p.S7W		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	7					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGGGCTAGCTCGCCGCTTCGG	0.711																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(19-21)tCg>tGg		protein O-glucosyltransferase 1							48	40	42					3																	119187888		2203	4299	6502	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119187888C>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.20C>G	3.37:g.119187888C>G	ENSP00000295588:p.Ser7Trp						p.S7W	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			1	104	+			7					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.20C>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029699	0.19512	.	.	ENSG00000163389	ENST00000295588	T	0.25250	1.81	4.58	-3.83	0.04269	.	3.258760	0.00520	N	0.000189	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.72032	D	0.01	5.4316	7.1771	0.25751	0.0:0.2445:0.5077:0.2479	.	7	Q8NBL1	PGLT1_HUMAN	W	7	ENSP00000295588:S7W	ENSP00000295588:S7W	S	+	2	0	POGLUT1	120670578	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.342000	0.02645	-0.997000	0.03450	-0.165000	0.13383	TCG		0.711	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		12	18	0	0	0	1	0	12	18					G	119187888	C	G	119187888	3	3	219	1	0	0	0	0	1	0	0	0	8583	893	31	4	22	4	KTELC1	3	119187888	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	7760878	119187888	78834542	18	27340											
PRR23A	729627	broad.mit.edu	37	chr3	138724681	138724681	+	Frame_Shift_Del	DEL	C	C	-													ggcgatctctgggacagatgCgcagaagacttcctgctcaa							TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:138724681delC	ENST00000383163.2	-	1	429	c.430delG	c.(430-432)gcafs	p.A144fs	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	144										endometrium(3)|kidney(1)|lung(7)	11						GGGACAGATGCGCAGAAGACT	0.652																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(430-432)cafs		proline rich 23A							47	46	46					3																	138724681		692	1591	2283	SO:0001589	frameshift_variant	729627							g.chr3:138724681delC		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.430delG	3.37:g.138724681delC	ENSP00000372649:p.Ala144fs					MRPS22_ENST00000495075.1_5'UTR	p.A144fs	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	429	-			144						Frame_Shift_Del	DEL	ENST00000383163.2	37	c.430delG	CCDS46923.1																																																																																				0.652	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		24	31						24	31	---	---	---	---	-	138724681	C	-	138724681	7	5	219	1	0	1	0	1	0	0	0	0	12594	768	27	0	374	0	PRR23A	3	138724681	Frame_Shift_Del	DEL	C	TCGA-FG-A6IZ-01A-11D-A31L-08	19536793	138724681	59297749	19	27341											
AADACL2	344752	broad.mit.edu	37	chr3	151475327	151475327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcaccattttatttacGtctaggtcttaggataagag	8	7	3	1	rs373909154		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:151475327G>A	ENST00000356517.3	+	5	1260	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	384						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTTATTTACGTCTAGGTCTT	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19959	0.0		0.0	False		,,,				2504	0.0					ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(1150-1152)cGt>cAt		arylacetamide deacetylase-like 2		G	HIS/ARG	0,4406		0,0,2203	81	84	83		1151	-3.5	0	3		83	1,8595	1.2+/-3.3	0,1,4297	no	missense	AADACL2	NM_207365.3	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	384/402	151475327	1,13001	2203	4298	6501	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475327G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1151G>A	3.37:g.151475327G>A	ENSP00000348911:p.Arg384His					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.R384H	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1260	+			384					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.1151G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366462	0.24771	0.0	1.16E-4	ENSG00000197953	ENST00000356517	T	0.59638	0.25	5.15	-3.55	0.04639	.	1.518380	0.03127	N	0.164612	T	0.35595	0.0937	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30208	-0.9986	10	0.39692	T	0.17	-15.833	11.3473	0.49567	0.5341:0.0:0.4659:0.0	.	384	Q6P093	ADCL2_HUMAN	H	384	ENSP00000348911:R384H	ENSP00000348911:R384H	R	+	2	0	AADACL2	152958017	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.295000	0.19065	-0.385000	0.07833	-0.964000	0.02622	CGT		0.333	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		41	46	0	0	0	1	0	41	46					A	151475327	G	A	151475327	3	1	219	1	0	0	0	0	1	0	0	0	11	1145	40	1	1169	1	AADACL2	3	151475327	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	12750646	151475327	46547103	20	27342											
GPR149	344758	broad.mit.edu	37	chr3	154056037	154056037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaatgcacacaagggAatggcaagggcataaccgga	13	10	0	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:154056037A>G	ENST00000389740.2	-	4	1746	c.1647T>C	c.(1645-1647)atT>atC	p.I549I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	549					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACACAAGGGAATGGCAAGGG	0.428																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1645-1647)atT>atC		G protein-coupled receptor 149							103	103	103					3																	154056037		1879	4102	5981	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154056037A>G	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1647T>C	3.37:g.154056037A>G							p.I549I	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1746	-			549						Silent	SNP	ENST00000389740.2	37	c.1647T>C	CCDS43162.1																																																																																				0.428	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		46	163	0	0	0	1	0	46	163					G	154056037	A	G	154056037	2	3	219	1	0	0	0	0	0	0	0	1	6654	242	9	3		3	GPR149	3	154056037	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2580710	154056037	43966393	21	27343											
YEATS2	55689	broad.mit.edu	37	chr3	183495362	183495362	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttggccagccatcaccccaGacttctggaaaacaactcac	7	15	3	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:183495362G>A	ENST00000305135.5	+	19	2805	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	870					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)			CATCACCCCAGACTTCTGGAA	0.433																																						ENST00000305135.5																			0				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						c.(2608-2610)caG>caA		YEATS domain containing 2							91	86	87					3																	183495362		1993	4178	6171	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183495362G>A	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.2610G>A	3.37:g.183495362G>A							p.Q870Q	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		19	2805	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		870					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2610G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	9.350	1.065312	0.20067	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.68	4.8	0.61643	.	.	.	.	.	T	0.62720	0.2451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60954	-0.7160	4	.	.	.	-14.0706	10.9687	0.47426	0.1518:0.0:0.8482:0.0	.	.	.	.	N	56	.	.	D	+	1	0	YEATS2	184978056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.531000	0.45650	1.357000	0.45904	0.655000	0.94253	GAC		0.433	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		8	57	0	0	0	1	0	8	57					A	183495362	G	A	183495362	2	1	219	1	0	0	0	0	0	0	0	1	17469	933	33	2		2	YEATS2	3	183495362	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	29439325	183495362	14527068	22	27344											
TECRL	253017	broad.mit.edu	37	chr4	65274899	65274899	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttcaatctcaaagtgagtCgtttttgaatgtttgactgc	8	6	2	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr4:65274899C>T	ENST00000381210.3	-	1	281	c.171G>A	c.(169-171)acG>acA	p.T57T	TECRL_ENST00000507440.1_Silent_p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	57					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAGTGAGTCGTTTTTGAAT	0.328																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(169-171)acG>acA		trans-2,3-enoyl-CoA reductase-like							68	66	66					4																	65274899		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274899C>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.171G>A	4.37:g.65274899C>T						TECRL_ENST00000507440.1_Silent_p.T57T	p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			1	281	-			57						Silent	SNP	ENST00000381210.3	37	c.171G>A	CCDS33990.1																																																																																				0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		20	19	0	0	0	1	0	20	19					T	65274899	C	T	65274899	2	4	219	1	0	0	0	0	0	0	0	1	15743	871	31	1		1	TECRL	4	65274899	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		65274899	125879377	23	27345											
POU4F3	5459	broad.mit.edu	37	chr5	145719841	145719841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacgtccatcgcggcgcCggagaagcgttcactcgagg	14	14	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr5:145719841C>T	ENST00000230732.4	+	2	940	c.851C>T	c.(850-852)cCg>cTg	p.P284L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	284					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)			ATCGCGGCGCCGGAGAAGCGT	0.582																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(850-852)cCg>cTg		POU class 4 homeobox 3							50	49	49					5																	145719841		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719841C>T	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.851C>T	5.37:g.145719841C>T	ENSP00000230732:p.Pro284Leu					CTC-359M8.1_ENST00000515598.1_RNA	p.P284L	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	940	+			284					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.851C>T	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182505	0.57800	.	.	ENSG00000091010	ENST00000230732	D	0.95980	-3.87	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.95013	0.8153	10	0.87932	D	0	.	12.8228	0.57702	0.0:0.8342:0.1658:0.0	.	284	Q15319	PO4F3_HUMAN	L	284	ENSP00000230732:P284L	ENSP00000230732:P284L	P	+	2	0	POU4F3	145700034	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.629000	0.83207	2.372000	0.80975	0.462000	0.41574	CCG		0.582	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		11	80	0	0	0	1	0	11	80					T	145719841	C	T	145719841	3	4	219	1	0	0	0	0	1	0	0	0	12280	652	23	1	857	1	POU4F3	5	145719841	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		145719841	35195419	24	27346											
SOX4	6659	broad.mit.edu	37	chr6	21594934	21594934	+	Frame_Shift_Del	DEL	G	G	-													gctggtgcaagaccccgagtGggcacatcaagcgacccatg							TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21594934delG	ENST00000244745.1	+	1	963	c.169delG	c.(169-171)gggfs	p.G57fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	57					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCCCGAGTGGGCACATCAA	0.677																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(169-171)ggfs		SRY (sex determining region Y)-box 4							24	23	23					6																	21594934		2201	4298	6499	SO:0001589	frameshift_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21594934delG	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.169delG	6.37:g.21594934delG	ENSP00000244745:p.Gly57fs					SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	963	+	Ovarian(93;0.163)		57						Frame_Shift_Del	DEL	ENST00000244745.1	37	c.169delG	CCDS4547.1																																																																																				0.677	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		13	12						13	12	---	---	---	---	-	21594934	G	-	21594934	7	5	219	1	0	1	0	1	0	0	0	0	14953	1348	47	0	171	0	SOX4	6	21594934	Frame_Shift_Del	DEL	G	TCGA-FG-A6IZ-01A-11D-A31L-08		21594934	149520133	25	27347											
SOX4	6659	broad.mit.edu	37	chr6	21595117	21595117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggagcggctgcgcctcAagcacatggctgactacccc	13	15	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21595117A>G	ENST00000244745.1	+	1	1146	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	118					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCTGCGCCTCAAGCACATGGC	0.622																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(352-354)Aag>Gag		SRY (sex determining region Y)-box 4							26	29	28					6																	21595117		2203	4300	6503	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595117A>G	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.352A>G	6.37:g.21595117A>G	ENSP00000244745:p.Lys118Glu					SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1146	+	Ovarian(93;0.163)		118						Missense_Mutation	SNP	ENST00000244745.1	37	c.352A>G	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259908	0.59321	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.97888	-4.59;-4.59	4.98	3.82	0.43975	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.93746	0.8001	N	0.22421	0.69	0.52501	D	0.999955	P	0.37233	0.588	P	0.47786	0.557	D	0.92399	0.5928	10	0.51188	T	0.08	.	9.6501	0.39892	0.9153:0.0:0.0847:0.0	.	118	Q06945	SOX4_HUMAN	E	118	ENSP00000244745:K118E;ENSP00000438412:K118E	ENSP00000244745:K118E	K	+	1	0	SOX4	21703096	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	5.716000	0.68437	0.732000	0.32470	0.454000	0.30748	AAG		0.622	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		9	25	0	0	0	1	0	9	25					G	21595117	A	G	21595117	3	3	219	1	0	0	0	0	1	0	0	0	14953	131	5	3	354	3	SOX4	6	21595117	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	183	21595117	149519950	26	27348											
CDKN1A	1026	broad.mit.edu	37	chr6	36653546	36653546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatttctaccactccaaacGccggctgatcttctccaaga	6	14	3	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:36653546G>A	ENST00000405375.1	+	3	699	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	155					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CACTCCAAACGCCGGCTGATC	0.597																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(463-465)cGc>cAc		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							128	138	135					6																	36653546		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36653546G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.464G>A	6.37:g.36653546G>A	ENSP00000384849:p.Arg155His					CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H	p.R155H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			3	699	+			155					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.464G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634014	0.87660	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.67	5.67	0.87782	.	0.000000	0.49305	D	0.000160	T	0.78457	0.4286	L	0.46157	1.445	0.48632	D	0.999689	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.959	T	0.80355	-0.1417	10	0.72032	D	0.01	-27.032	15.2608	0.73621	0.0:0.0:1.0:0.0	.	189;155	B4DQP9;P38936	.;CDN1A_HUMAN	H	189;155;155;155	ENSP00000409259:R189H;ENSP00000244741:R155H;ENSP00000384849:R155H;ENSP00000362815:R155H	ENSP00000244741:R155H	R	+	2	0	CDKN1A	36761524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.794000	0.55492	2.686000	0.91538	0.561000	0.74099	CGC		0.597	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		43	317	0	0	0	1	0	43	317					A	36653546	G	A	36653546	3	1	219	1	0	0	0	0	1	0	0	0	3158	1087	38	1	470	1	CDKN1A	6	36653546	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	15058429	36653546	134461521	27	27349											
DNAH8	1769	broad.mit.edu	37	chr6	38773314	38773314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgaaaacaatgactAtgaagctaatattgtgaatg	11	3	0	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:38773314A>G	ENST00000359357.3	+	21	2695	c.2441A>G	c.(2440-2442)tAt>tGt	p.Y814C	DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	814					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						AACAATGACTATGAAGCTAAT	0.303																																						ENST00000359357.3																			0				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						c.(2440-2442)tAt>tGt		dynein, axonemal, heavy chain 8							106	103	104					6																	38773314		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38773314A>G	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.2441A>G	6.37:g.38773314A>G	ENSP00000352312:p.Tyr814Cys					DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C	p.Y814C							21	2695	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2441A>G		.	.	.	.	.	.	.	.	.	.	A	13.42	2.231670	0.39399	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	5.45	-1.49	0.08718	.	0.116963	0.37012	N	0.002282	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B	0.28760	0.221	B	0.27170	0.077	T	0.34354	-0.9832	10	0.35671	T	0.21	.	1.6515	0.02773	0.2673:0.2537:0.0781:0.401	.	814	Q96JB1	DYH8_HUMAN	C	1019;1019;814;814	ENSP00000333363:Y1019C;ENSP00000352312:Y814C;ENSP00000402294:Y814C	ENSP00000333363:Y1019C	Y	+	2	0	DNAH8	38881292	0.003000	0.15002	0.243000	0.24186	0.542000	0.35054	-0.112000	0.10791	-0.156000	0.11079	0.533000	0.62120	TAT		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	75	0	0	0	1	0	4	75					G	38773314	A	G	38773314	3	3	219	1	0	0	0	0	1	0	0	0	4607	449	16	3	2515	3	DNAH8	6	38773314	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2119768	38773314	132341753	28	27350											
COL9A1	1297	broad.mit.edu	37	chr6	70993483	70993483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtttctctcctgggcCgcagggggtcacaatggatc	14	11	2	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:70993483C>T	ENST00000357250.6	-	6	895	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q|COL9A1_ENST00000370499.4_5'Flank|COL9A1_ENST00000320755.7_5'Flank	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	246	Nonhelical region (NC4).				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)	p.R246Q(1)		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						TCTCCTGGGCCGCAGGGGGTC	0.517																																						ENST00000357250.6																			1	Substitution - Missense(1)	p.R246Q(1)	large_intestine(1)	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						c.(736-738)cGg>cAg		collagen, type IX, alpha 1							104	84	91					6																	70993483		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70993483C>T		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.737G>A	6.37:g.70993483C>T	ENSP00000349790:p.Arg246Gln					COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q	p.R246Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			6	895	-			246			Nonhelical region (NC4).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.737G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905826	0.92107	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02067	4.47;4.47	5.56	5.56	0.83823	Concanavalin A-like lectin/glucanase (1);	0.000000	0.64402	D	0.000003	T	0.06645	0.0170	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.50988	-0.8762	10	0.23302	T	0.38	.	18.5065	0.90900	0.0:1.0:0.0:0.0	.	246	P20849	CO9A1_HUMAN	Q	246	ENSP00000349790:R246Q;ENSP00000359527:R246Q	ENSP00000349790:R246Q	R	-	2	0	COL9A1	71050204	1.000000	0.71417	0.806000	0.32338	0.858000	0.48976	5.735000	0.68587	2.633000	0.89246	0.655000	0.94253	CGG		0.517	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	16	0	0	0	1	0	4	16					T	70993483	C	T	70993483	3	4	219	1	0	0	0	0	1	0	0	0	3707	652	23	1	2236	1	COL9A1	6	70993483	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	32220169	70993483	100121584	29	27351											
COL12A1	1303	broad.mit.edu	37	chr6	75893744	75893744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtcggcttcctgcagTcattggtgtgaggatgactt	14	8	1	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:75893744T>C	ENST00000322507.8	-	9	1423	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	372	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CTTCCTGCAGTCATTGGTGTG	0.478																																						ENST00000322507.8																			0				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						c.(1114-1116)Act>Gct		collagen, type XII, alpha 1							91	89	90					6																	75893744		2001	4183	6184	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893744T>C	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.1114A>G	6.37:g.75893744T>C	ENSP00000325146:p.Thr372Ala					COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron	p.T372A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			9	1423	-			372			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1114A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.930742	0.00488	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57436	0.4;0.4;0.4	5.55	1.7	0.24286	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.431286	0.21785	N	0.069149	T	0.12263	0.0298	L	0.39147	1.195	0.20563	N	0.999881	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35992	-0.9766	10	0.02654	T	1	.	5.2356	0.15445	0.5535:0.0866:0.0:0.3598	.	372;372	D6RGG3;Q99715	.;COCA1_HUMAN	A	372	ENSP00000325146:T372A;ENSP00000412864:T372A;ENSP00000421216:T372A	ENSP00000325146:T372A	T	-	1	0	COL12A1	75950464	1.000000	0.71417	0.419000	0.26584	0.213000	0.24496	0.424000	0.21330	0.043000	0.15746	-0.333000	0.08304	ACT		0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		11	139	0	0	0	1	0	11	139					C	75893744	T	C	75893744	3	2	219	1	0	0	0	0	1	0	0	0	3669	1667	58	3	8309	3	COL12A1	6	75893744	Missense_Mutation	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	4900261	75893744	95221323	30	27352											
TAGAP	117289	broad.mit.edu	37	chr6	159456923	159456923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccggctggctacatcgtCgcacgagacagtcccgctta	11	14	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:159456923C>T	ENST00000367066.3	-	10	2463	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					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)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTACATCGTCGCACGAGACA	0.567																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(2131-2133)cGa>cAa		T-cell activation RhoGTPase activating protein							68	62	64					6																	159456923		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456923C>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2132G>A	6.37:g.159456923C>T	ENSP00000356033:p.Arg711Gln					RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	p.R711Q	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2463	-		Breast(66;0.000776)|Ovarian(120;0.0303)	711					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.2132G>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601701	0.46423	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.22743	1.94;2.18	5.82	0.844	0.18943	.	0.573271	0.16820	N	0.198182	T	0.02807	0.0084	N	0.19112	0.55	0.18873	N	0.999987	B	0.33379	0.41	B	0.19666	0.026	T	0.38499	-0.9658	10	0.39692	T	0.17	-0.1856	4.0768	0.09908	0.1123:0.5895:0.1088:0.1894	.	711	Q8N103	TAGAP_HUMAN	Q	711;533	ENSP00000356033:R711Q;ENSP00000322650:R533Q	ENSP00000322650:R533Q	R	-	2	0	TAGAP	159376911	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.422000	0.07043	0.080000	0.16959	0.563000	0.77884	CGA		0.567	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		6	64	0	0	0	1	0	6	64					T	159456923	C	T	159456923	3	4	219	1	0	0	0	0	1	0	0	0	15534	884	31	1	67	1	TAGAP	6	159456923	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	83563179	159456923	11658144	31	27353											
POU6F2	11281	broad.mit.edu	37	chr7	39125630	39125630	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacactcccagcaagctcttCggtaagtctgtctaggtatt	9	11	3	0	rs530262963	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:39125630C>T	ENST00000403058.1	+	3	343	c.189C>T	c.(187-189)ttC>ttT	p.F63F	POU6F2_ENST00000518318.2_Splice_Site_p.F63F|POU6F2_ENST00000464276.2_Splice_Site_p.F55F|POU6F2_ENST00000559001.1_Splice_Site_p.F55F|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507													C|||	7	0.00139776	0.0	0.0	5008	,	,		15948	0.0		0.0	False		,,,				2504	0.0072					ENST00000518318.2																			1	Substitution - coding silent(1)	p.F63F(1)	large_intestine(1)	NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.e2+1		POU class 6 homeobox 2							90	78	82					7																	39125630		2203	4300	6503	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39125630C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.190+1C>T	7.37:g.39125630C>T						POU6F2_ENST00000403058.1_Splice_Site_p.F63_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Splice_Site_p.F55_splice|POU6F2_ENST00000464276.2_Splice_Site_p.F55_splice	p.F63_splice			P78424	PO6F2_HUMAN			2	231	+			63					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Splice_Site	SNP	ENST00000403058.1	37	c.190_splice	CCDS34620.2																																																																																				0.507	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Silent	5	42	0	0	0	1	0	5	42					T	39125630	C	T	39125630	5	4	219	1	0	0	0	0	0	0	1	0	12285	898	31	1	195	1	POU6F2	7	39125630	Splice_Site	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		39125630	120013033	32	27354											
KCTD7	154881	broad.mit.edu	37	chr7	66104145	66104145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccaccagtgcatcgggGtgtgtgacaagcacctcgtg	14	11	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:66104145G>A	ENST00000275532.3	+	4	980	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	266					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GTGCATCGGGGTGTGTGACAA	0.597																																						ENST00000275532.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(796-798)Gtg>Atg		potassium channel tetramerization domain containing 7							106	80	89					7																	66104145		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66104145G>A	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.796G>A	7.37:g.66104145G>A	ENSP00000275532:p.Val266Met					KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	980	+			266					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.796G>A	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530471	0.85706	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.66815	-0.22;-0.23	5.33	5.33	0.75918	.	.	.	.	.	T	0.78155	0.4239	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.77284	-0.2645	9	0.44086	T	0.13	.	18.012	0.89226	0.0:0.0:1.0:0.0	.	266	Q96MP8	KCTD7_HUMAN	M	266	ENSP00000275532:V266M;ENSP00000411624:V266M	ENSP00000275532:V266M	V	+	1	0	KCTD7	65741580	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.152000	0.94680	2.485000	0.83878	0.655000	0.94253	GTG		0.597	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		4	56	0	0	0	1	0	4	56					A	66104145	G	A	66104145	3	1	219	1	0	0	0	0	1	0	0	0	8114	1261	44	2	810	2	KCTD7	7	66104145	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	26978515	66104145	93034518	33	27355											
GNAT3	346562	broad.mit.edu	37	chr7	80108203	80108203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatgccctttcaaagcAggcctgaattcctggatctc	8	12	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:80108203A>G	ENST00000398291.3	-	4	508	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	139					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						CTTTCAAAGCAGGCCTGAATT	0.413																																						ENST00000398291.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(415-417)Tgc>Cgc		guanine nucleotide binding protein, alpha transducing 3							156	148	151					7																	80108203		1879	4110	5989	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80108203A>G		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.415T>C	7.37:g.80108203A>G	ENSP00000381339:p.Cys139Arg					CD36_ENST00000435819.1_Intron	p.C139R	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN			4	508	-			139					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.415T>C	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711424	0.68730	.	.	ENSG00000214415	ENST00000398291	D	0.88818	-2.43	5.32	5.32	0.75619	G protein alpha subunit, helical insertion (2);	0.122222	0.56097	U	0.000032	D	0.95316	0.8480	H	0.94771	3.58	0.80722	D	1	D	0.57571	0.98	P	0.59487	0.858	D	0.96519	0.9384	9	.	.	.	.	14.9419	0.71000	1.0:0.0:0.0:0.0	.	139	A8MTJ3	GNAT3_HUMAN	R	139	ENSP00000381339:C139R	.	C	-	1	0	GNAT3	79946139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.038000	0.49783	2.014000	0.59158	0.528000	0.53228	TGC		0.413	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		65	107	0	0	0	1	0	65	107					G	80108203	A	G	80108203	3	3	219	1	0	0	0	0	1	0	0	0	6513	188	7	3	667	3	GNAT3	7	80108203	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	14004058	80108203	79030460	34	27356											
UBE3C	9690	broad.mit.edu	37	chr7	157000121	157000121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgttgcttcaggtgatatCcaggggttctcctatgtctt	10	10	3	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:157000121C>T	ENST00000348165.5	+	12	1808	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	483					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGGTGATATCCAGGGGTTCT	0.338																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1447-1449)tCc>tTc		ubiquitin protein ligase E3C							178	174	175					7																	157000121		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157000121C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1448C>T	7.37:g.157000121C>T	ENSP00000309198:p.Ser483Phe						p.S483F	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	12	1808	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	483					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1448C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675483	0.88445	.	.	ENSG00000009335	ENST00000348165	T	0.52754	0.65	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.972	T	0.72629	-0.4235	10	0.72032	D	0.01	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	483;483	Q15386;Q15386-2	UBE3C_HUMAN;.	F	483	ENSP00000309198:S483F	ENSP00000309198:S483F	S	+	2	0	UBE3C	156692882	1.000000	0.71417	0.925000	0.36789	0.953000	0.61014	7.207000	0.77899	2.450000	0.82876	0.655000	0.94253	TCC		0.338	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		32	49	0	0	0	1	0	32	49					T	157000121	C	T	157000121	3	4	219	1	0	0	0	0	1	0	0	0	16878	855	30	2	1494	2	UBE3C	7	157000121	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	76891918	157000121	2138542	35	27357											
IKBKB	3551	broad.mit.edu	37	chr8	42147675	42147675	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggttttcctcctcctaggCtgacccaccccaatgtggtg	9	15	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:42147675C>T	ENST00000520810.1	+	4	388	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	IKBKB_ENST00000520835.1_Splice_Site_p.L66L|IKBKB_ENST00000519735.1_Splice_Site_p.L68L|IKBKB_ENST00000416505.2_Splice_Site_p.L9L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	TCCTCCTAGGCTGACCCACCC	0.627																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e4-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						41	40	40					8																	42147675		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42147675C>T	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.201-1C>T	8.37:g.42147675C>T						IKBKB_ENST00000416505.2_Splice_Site_p.L9_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.L66_splice|IKBKB_ENST00000519735.1_Splice_Site_p.L68_splice|IKBKB_ENST00000379708.3_Intron	p.L68_splice	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	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)		4	388	+	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)	68			Protein kinase.		B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37	c.200_splice	CCDS6128.1																																																																																				0.627	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Silent	19	18	0	0	0	1	0	19	18					T	42147675	C	T	42147675	5	4	219	1	0	0	0	0	0	0	1	0	7611	811	28	2	212	2	IKBKB	8	42147675	Splice_Site	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		42147675	104216347	36	27358											
PLEC	5339	broad.mit.edu	37	chr8	144991031	144991031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggggtcgatgatgcCcccggtgcaggcctgcgcct	17	13	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:144991031C>T	ENST00000322810.4	-	32	13538	c.13369G>A	c.(13369-13371)Ggc>Agc	p.G4457S	PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				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						TCGATGATGCCCCCGGTGCAG	0.652																																						ENST00000322810.4																			0				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						c.(13369-13371)Ggc>Agc		plectin							39	46	44					8																	144991031		2125	4225	6350	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991031C>T	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.13369G>A	8.37:g.144991031C>T	ENSP00000323856:p.Gly4457Ser					PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S	p.G4457S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13538	-			4457			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13369G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453189	0.26161	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000006	D	0.94205	0.8140	M	0.90870	3.155	0.80722	D	1	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	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	D	0.94834	0.7999	10	0.72032	D	0.01	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	4347;4306;4298;4457;4288;4320;4324;4320	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	4320;4324;4320;4288;4457;4298;4306;4347;4343	ENSP00000344848:G4320S;ENSP00000350277:G4324S;ENSP00000346602:G4320S;ENSP00000381756:G4288S;ENSP00000323856:G4457S;ENSP00000347044:G4298S;ENSP00000348702:G4306S;ENSP00000388180:G4347S;ENSP00000434583:G4343S	ENSP00000323856:G4457S	G	-	1	0	PLEC	145063019	1.000000	0.71417	0.987000	0.45799	0.053000	0.15095	7.543000	0.82106	2.795000	0.96236	0.643000	0.83706	GGC		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	113	0	0	0	1	0	4	113					T	144991031	C	T	144991031	3	4	219	1	0	0	0	0	1	0	0	0	12052	623	22	2	689	2	PLEC	8	144991031	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	102843356	144991031	1372991	37	27359											
FREM1	158326	broad.mit.edu	37	chr9	14842610	14842610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcatgatgatagcgaAcaactccagcctggaggtca	10	10	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:14842610A>G	ENST00000380880.3	-	9	2225	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A	FREM1_ENST00000380881.4_Missense_Mutation_p.V482A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	481					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)		ATGATAGCGAACAACTCCAGC	0.532																																						ENST00000380881.4																			0				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						c.(1444-1446)gTt>gCt		FRAS1 related extracellular matrix 1							93	98	96					9																	14842610		2086	4206	6292	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842610A>G	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.1442T>C	9.37:g.14842610A>G	ENSP00000370262:p.Val481Ala					FREM1_ENST00000380880.3_Missense_Mutation_p.V481A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A	p.V482A			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2260	-			481					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1445T>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837038	0.91117	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27402	1.67;1.67;1.67	5.63	5.63	0.86233	.	0.117292	0.56097	D	0.000021	T	0.59945	0.2231	M	0.83483	2.645	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.66035	-0.6023	10	0.87932	D	0	-11.4496	16.1485	0.81594	1.0:0.0:0.0:0.0	.	481	Q5H8C1	FREM1_HUMAN	A	482;481;481	ENSP00000370263:V482A;ENSP00000412940:V481A;ENSP00000370262:V481A	ENSP00000370257:V484A	V	-	2	0	FREM1	14832610	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.910000	0.92685	2.281000	0.76405	0.533000	0.62120	GTT		0.532	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		130	11	0	0	0	1	0	130	11					G	14842610	A	G	14842610	3	3	219	1	0	0	0	0	1	0	0	0	6044	43	2	3	5263	3	FREM1	9	14842610	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08		14842610	126370821	38	27360											
AQP3	360	broad.mit.edu	37	chr9	33442900	33442900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccagaggggtaggtagCaaagatgccggctgtgccat	16	8	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:33442900C>T	ENST00000297991.4	-	4	522	c.442G>A	c.(442-444)Gct>Act	p.A148T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	148					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGTAGGTAGCAAAGATGCCG	0.562																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(442-444)Gct>Act		aquaporin 3 (Gill blood group)							154	151	152					9																	33442900		2203	4300	6503	SO:0001583	missense	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33442900C>T		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"Ion channels / Aquaporins", "Blood group antigens"	636	protein-coding gene	gene with protein product	"Gill blood group"	600170	"aquaporin 3", "aquaporin 3 (GIL blood group)"			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.442G>A	9.37:g.33442900C>T	ENSP00000297991:p.Ala148Thr					AQP3_ENST00000493581.1_5'UTR	p.A148T	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	4	522	-			148					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	ENST00000297991.4	37	c.442G>A	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553822	0.86231	.	.	ENSG00000165272	ENST00000297991;ENST00000343952	T	0.12465	2.68	5.91	5.91	0.95273	Aquaporin-like (2);	0.096129	0.64402	D	0.000001	T	0.28699	0.0711	M	0.71036	2.16	0.80722	D	1	P;P	0.44816	0.844;0.461	P;P	0.51777	0.679;0.467	T	0.00309	-1.1828	10	0.56958	D	0.05	-0.0036	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	148;148	C9JAH5;Q92482	.;AQP3_HUMAN	T	148	ENSP00000297991:A148T	ENSP00000297991:A148T	A	-	1	0	AQP3	33432900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.896000	0.63222	2.793000	0.96121	0.655000	0.94253	GCT		0.562	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925		6	209	0	0	0	1	0	6	209					T	33442900	C	T	33442900	3	4	219	1	0	0	0	0	1	0	0	0	827	710	25	2	448	2	AQP3	9	33442900	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	18600290	33442900	107770531	39	27361											
ADAMTS13	11093	broad.mit.edu	37	chr9	136320669	136320669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggcctgctcttctcccCggctccccagcctcggcggc	12	21	2	0	rs200122302		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:136320669C>T	ENST00000371929.3	+	25	3956	c.3512C>T	c.(3511-3513)cCg>cTg	p.P1171L	ADAMTS13_ENST00000371910.1_5'Flank|ADAMTS13_ENST00000355699.2_Intron|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1171					cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTTCTCCCCGGCTCCCCAG	0.687																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(3511-3513)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							29	38	35					9																	136320669		2180	4275	6455	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136320669C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3512C>T	9.37:g.136320669C>T	ENSP00000360997:p.Pro1171Leu					ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Intron	p.P1171L	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	25	3956	+			1171					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.3512C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134939	0.21123	.	.	ENSG00000160323	ENST00000371929	D	0.82081	-1.57	5.28	4.37	0.52481	.	.	.	.	.	T	0.68531	0.3011	N	0.20685	0.6	0.24684	N	0.993343	B	0.15719	0.014	B	0.08055	0.003	T	0.52411	-0.8579	8	.	.	.	.	7.2145	0.25951	0.0:0.8295:0.0:0.1705	.	1171	Q76LX8	ATS13_HUMAN	L	1171	ENSP00000360997:P1171L	.	P	+	2	0	ADAMTS13	135310490	0.060000	0.20803	0.083000	0.20561	0.043000	0.13939	2.039000	0.41193	2.448000	0.82819	0.561000	0.74099	CCG		0.687	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		17	127	0	0	0	1	0	17	127					T	136320669	C	T	136320669	3	4	219	1	0	0	0	0	1	0	0	0	258	652	23	1	3610	1	ADAMTS13	9	136320669	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	102877769	136320669	4892762	40	27362											
MAN1B1	11253	broad.mit.edu	37	chr9	140003035	140003035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctctgcctatctggaccCctgcctagggtggatggctg	12	14	2	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:140003035C>T	ENST00000371589.4	+	13	2165	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	698					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)		TATCTGGACCCCTGCCTAGGG	0.597																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(2092-2094)Cct>Tct		mannosidase, alpha, class 1B, member 1							117	115	116					9																	140003035		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140003035C>T	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.2092C>T	9.37:g.140003035C>T	ENSP00000360645:p.Pro698Ser					MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S|MAN1B1_ENST00000540391.1_3'UTR	p.P698S	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	13	2165	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	698					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.2092C>T	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.606523|2.606523	0.46527|0.46527	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000550113|ENST00000371589;ENST00000474902	.|T;D	.|0.85339	.|-1.23;-1.97	5.44|5.44	1.42|1.42	0.22433|0.22433	.|.	.|.	.|.	.|.	.|.	T|T	0.69531|0.69531	0.3121|0.3121	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32245	.|0.361;0.038	.|B;B	.|0.22880	.|0.042;0.013	T|T	0.53549|0.53549	-0.8423|-0.8423	5|8	.|.	.|.	.|.	.|.	6.2303|6.2303	0.20732|0.20732	0.0:0.553:0.2895:0.1575|0.0:0.553:0.2895:0.1575	.|.	.|371;698	.|B3KXZ1;Q9UKM7	.|.;MA1B1_HUMAN	L|S	122|698;401	.|ENSP00000360645:P698S;ENSP00000447256:P401S	.|.	P|P	+|+	2|1	0|0	MAN1B1|MAN1B1	139122856|139122856	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.454000|0.454000	0.32378|0.32378	-0.184000|-0.184000	0.09698|0.09698	0.004000|0.004000	0.14682|0.14682	-0.305000|-0.305000	0.09177|0.09177	CCC|CCT		0.597	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		6	207	0	0	0	1	0	6	207					T	140003035	C	T	140003035	3	4	219	1	0	0	0	0	1	0	0	0	9212	623	22	2	2142	2	MAN1B1	9	140003035	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	3682366	140003035	1210396	41	27363											
ITGA8	8516	broad.mit.edu	37	chr10	15561315	15561315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagctaaggttaaaatggCgagaaccaacaatccaagaa	8	7	0	2	rs150922478	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:15561315C>T	ENST00000378076.3	-	29	3432	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1027					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						GTTAAAATGGCGAGAACCAAC	0.373																																						ENST00000378076.3																			0				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						c.(3079-3081)Gcc>Acc		integrin, alpha 8		C	THR/ALA	0,4406		0,0,2203	134	145	141		3079	4.6	1	10	dbSNP_134	141	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ITGA8	NM_003638.1	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	1027/1064	15561315	5,13001	2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15561315C>T	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.3079G>A	10.37:g.15561315C>T	ENSP00000367316:p.Ala1027Thr						p.A1027T	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			29	3432	-			1027					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.3079G>A	CCDS31155.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.35	3.368088	0.61513	0.0	5.81E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.72051	-0.62	5.71	4.62	0.57501	.	0.143577	0.64402	D	0.000006	T	0.60856	0.2301	L	0.39566	1.225	0.46478	D	0.999066	B;B	0.26845	0.161;0.1	B;B	0.23018	0.043;0.019	T	0.58521	-0.7622	10	0.35671	T	0.21	.	13.8587	0.63545	0.0:0.9176:0.0:0.0824	.	1012;1027	F5H818;P53708	.;ITA8_HUMAN	T	1027;1012	ENSP00000367316:A1027T	ENSP00000367316:A1027T	A	-	1	0	ITGA8	15601321	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.807000	0.62576	2.712000	0.92718	0.650000	0.86243	GCC		0.373	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		10	215	0	0	0	1	0	10	215					T	15561315	C	T	15561315	3	4	219	1	0	0	0	0	1	0	0	0	7882	768	27	1	120	1	ITGA8	10	15561315	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		15561315	119973432	42	27364											
TYSND1	219743	broad.mit.edu	37	chr10	71899723	71899723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaggggccgctgcaacCgccacaccaccctgactggc	11	19	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:71899723C>T	ENST00000287078.6	-	4	1657	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	553					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGCTGCAACCGCCACACCAC	0.627																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(1657-1659)cGg>cAg		trypsin domain containing 1							55	58	57					10																	71899723		2203	4300	6503	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71899723C>T	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.1658G>A	10.37:g.71899723C>T	ENSP00000287078:p.Arg553Gln					TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	p.R553Q	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			4	1657	-			553					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1658G>A	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603079	0.96614	.	.	ENSG00000156521	ENST00000287078	T	0.48201	0.82	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65656	-0.6115	10	0.72032	D	0.01	-37.5121	19.2273	0.93822	0.0:1.0:0.0:0.0	.	553	Q2T9J0	TYSD1_HUMAN	Q	553	ENSP00000287078:R553Q	ENSP00000287078:R553Q	R	-	2	0	TYSND1	71569729	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.870000	0.63035	2.894000	0.99253	0.655000	0.94253	CGG		0.627	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		6	92	0	0	0	1	0	6	92					T	71899723	C	T	71899723	3	4	219	1	0	0	0	0	1	0	0	0	16814	652	23	1	46	1	TYSND1	10	71899723	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	56338408	71899723	63635024	43	27365											
GBF1	8729	broad.mit.edu	37	chr10	104122359	104122361	+	In_Frame_Del	DEL	AGA	AGA	-													caacagcctcacccagcaagAgaagaaggagacagccagac							TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:104122359_104122361delAGA	ENST00000369983.3	+	15	2071_2073	c.1811_1813delAGA	c.(1810-1815)gagaag>gag	p.K606del		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	606					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCCAGCAAGAGAAGAAGGAGAC	0.483																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1810-1815)gag>g		golgi brefeldin A resistant guanine nucleotide exchange factor 1																																				SO:0001651	inframe_deletion	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104122359_104122361delAGA	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1811_1813delAGA	10.37:g.104122362_104122364delAGA	ENSP00000359000:p.Lys606del						p.EK604del	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	15	2071_2073	+		Colorectal(252;0.0236)	604					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	In_Frame_Del	DEL	ENST00000369983.3	37	c.1811_1813delAGA	CCDS7533.1																																																																																				0.483	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			9	125						9	125	---	---	---	---	-	104122361	AGA	-	104122359	7	5	219	1	0	1	0	1	0	0	0	0	6271	304	11	0	1865	0	GBF1	10	104122359	In_Frame_Del	DEL	AGA	TCGA-FG-A6IZ-01A-11D-A31L-08	32222636	104122359	31412388	44	27366											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643289	1643289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccacagcccccacagccgGagccacagcctccagagcag	10	19	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:1643289G>A	ENST00000399682.1	-	1	79	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0						keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cccacagccggagccacagcc	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(34-36)tCc>tTc		keratin associated protein 5-4							9	11	10					11																	1643289		689	1588	2277	SO:0001583	missense	387267					keratin filament		g.chr11:1643289G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.35C>T	11.37:g.1643289G>A	ENSP00000382590:p.Ser12Phe						p.S12F	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	79	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	12						Missense_Mutation	SNP	ENST00000399682.1	37	c.35C>T		.	.	.	.	.	.	.	.	.	.	G	9.681	1.149332	0.21288	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.01178	5.22	3.16	3.16	0.36331	.	.	.	.	.	T	0.03739	0.0106	M	0.77486	2.375	0.23542	N	0.997458	.	.	.	.	.	.	T	0.16630	-1.0396	7	0.87932	D	0	.	8.5857	0.33657	0.0:0.2391:0.7609:0.0	.	.	.	.	F	12	ENSP00000382590:S12F	ENSP00000331603:S12F	S	-	2	0	KRTAP5-4	1599865	1.000000	0.71417	0.987000	0.45799	0.438000	0.31896	2.016000	0.40971	1.467000	0.48044	0.591000	0.81541	TCC		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		28	251	0	0	0	1	0	28	251					A	1643289	G	A	1643289	3	1	219	1	0	0	0	0	1	0	0	0	8563	1174	41	2	655	2	KRTAP5-4	11	1643289	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		1643289	133363227	45	27367											
OR52K1	390036	broad.mit.edu	37	chr11	4510367	4510367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttctttcttctacaacGctgcccaaaatgcttgccat	6	12	3	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:4510367G>A	ENST00000307632.3	+	1	259	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	79						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)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTACAACGCTGCCCAAAA	0.483																																						ENST00000307632.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(235-237)acG>acA		olfactory receptor, family 52, subfamily K, member 1							133	109	117					11																	4510367		2201	4298	6499	SO:0001819	synonymous_variant	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510367G>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.237G>A	11.37:g.4510367G>A							p.T79T	NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	259	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	79					B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	c.237G>A	CCDS31352.1																																																																																				0.483	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		5	81	0	0	0	1	0	5	81					A	4510367	G	A	4510367	2	1	219	1	0	0	0	0	0	0	0	1	11123	1074	38	1		1	OR52K1	11	4510367	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	2867078	4510367	130496149	46	27368											
ZNF215	7762	broad.mit.edu	37	chr11	6977625	6977625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggaaaatccttcaacCggagctcctctcttattcga	7	12	2	0	rs201971317		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:6977625C>T	ENST00000278319.5	+	7	2005	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	473					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCCTTCAACCGGAGCTCCTC	0.388																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1417-1419)Cgg>Tgg		zinc finger protein 215							83	86	85					11																	6977625		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977625C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1417C>T	11.37:g.6977625C>T	ENSP00000278319:p.Arg473Trp					ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	2005	+			473					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1417C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836776	0.50951	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.30182	1.54;1.54	4.75	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001264	T	0.35566	0.0936	L	0.42487	1.325	0.18873	N	0.999982	D	0.89917	1.0	P	0.57846	0.828	T	0.08806	-1.0704	10	0.56958	D	0.05	-0.1481	5.7398	0.18087	0.3447:0.5641:0.0:0.0912	.	473	Q9UL58	ZN215_HUMAN	W	473	ENSP00000278319:R473W;ENSP00000393202:R473W	ENSP00000278319:R473W	R	+	1	2	ZNF215	6934201	0.000000	0.05858	0.079000	0.20413	0.763000	0.43281	-1.369000	0.02578	0.713000	0.32060	0.585000	0.79938	CGG		0.388	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			7	115	0	0	0	1	0	7	115					T	6977625	C	T	6977625	3	4	219	1	0	0	0	0	1	0	0	0	17768	643	23	1	1435	1	ZNF215	11	6977625	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	2467258	6977625	128028891	47	27369											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636782	18636782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctggaatggctaggatGggacagagattttttggctt	15	5	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:18636782G>A	ENST00000336349.5	-	3	1274	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	347	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCTAGGATGGGACAGAGAT	0.542																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1039-1041)Cat>Tat		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							108	120	116					11																	18636782		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636782G>A	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.1039C>T	11.37:g.18636782G>A	ENSP00000337991:p.His347Tyr						p.H347Y	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1274	-			347			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.1039C>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701677	0.15172	.	.	ENSG00000179119	ENST00000336349	T	0.24350	1.86	5.77	0.604	0.17547	.	0.798902	0.12047	N	0.504425	T	0.14527	0.0351	N	0.20986	0.625	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.56958	D	0.05	0.1504	3.9311	0.09285	0.2263:0.0:0.4865:0.2871	.	347	Q68D10	SPT2_HUMAN	Y	347	ENSP00000337991:H347Y	ENSP00000337991:H347Y	H	-	1	0	SPTY2D1	18593358	0.998000	0.40836	0.029000	0.17559	0.691000	0.40173	2.564000	0.45931	-0.125000	0.11703	-0.309000	0.09137	CAT		0.542	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		34	258	0	0	0	1	0	34	258					A	18636782	G	A	18636782	3	1	219	1	0	0	0	0	1	0	0	0	15125	1348	47	2	1034	2	SPTY2D1	11	18636782	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	11659157	18636782	116369734	48	27370											
OR6Q1	219952	broad.mit.edu	37	chr11	57798864	57798864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggggcacctgcatccGtctggcagctgcctgttggc	14	14	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:57798864G>A	ENST00000302622.3	+	1	463	c.440G>A	c.(439-441)cGt>cAt	p.R147H	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACCTGCATCCGTCTGGCAGCT	0.507																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(439-441)cGt>cAt		olfactory receptor, family 6, subfamily Q, member 1							133	123	127					11																	57798864		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798864G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.440G>A	11.37:g.57798864G>A	ENSP00000307734:p.Arg147His					OR9Q1_ENST00000335397.3_Intron	p.R147H	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	463	+		Breast(21;0.0707)|all_epithelial(135;0.142)	147					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.440G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586156	0.28268	.	.	ENSG00000172381	ENST00000302622	T	0.00130	8.69	5.04	-0.361	0.12564	GPCR, rhodopsin-like superfamily (1);	0.191925	0.25747	N	0.028564	T	0.00073	0.0002	N	0.16833	0.445	0.09310	N	0.999995	B	0.10296	0.003	B	0.10450	0.005	T	0.16188	-1.0411	10	0.13108	T	0.6	.	3.9773	0.09479	0.3116:0.0:0.4488:0.2396	.	147	Q8NGQ2	OR6Q1_HUMAN	H	147	ENSP00000307734:R147H	ENSP00000307734:R147H	R	+	2	0	OR6Q1	57555440	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	-0.815000	0.04481	-0.041000	0.13558	-0.135000	0.14842	CGT		0.507	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		5	126	0	0	0	1	0	5	126					A	57798864	G	A	57798864	3	1	219	1	0	0	0	0	1	0	0	0	11208	1145	40	1	442	1	OR6Q1	11	57798864	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	39162082	57798864	77207652	49	27371											
ARAP1	116985	broad.mit.edu	37	chr11	72398486	72398486	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactctgcacctggtacctGcacaaacagaaaggtagcga	9	12	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:72398486G>A	ENST00000393609.3	-	33	4385	c.4183C>T	c.(4183-4185)Cag>Tag	p.Q1395*	ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1395	PH 4. {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						CCTGGTACCTGCACAAACAGA	0.577																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(4150-4152)Cag>Tag		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							137	107	117					11																	72398486		2200	4293	6493	SO:0001587	stop_gained	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72398486G>A	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.4183C>T	11.37:g.72398486G>A	ENSP00000377233:p.Gln1395*					ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.Q1395*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*	p.Q1384*			Q96P48	ARAP1_HUMAN			32	5001	-			1395			PH 4.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	c.4150C>T	CCDS41687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.83|16.83	3.231317|3.231317	0.58777|0.58777	.|.	.|.	ENSG00000186635|ENSG00000186635	ENST00000536885|ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	.|.	.|.	.|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.71443|.	0.3340|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75227|.	-0.3392|.	3|.	.|0.41790	.|T	.|0.15	.|.	15.8411|15.8411	0.78845|0.78845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	47|1384;1384;1155;1150;1395;1139;1078;188	.|.	.|ENSP00000335506:Q1150X	A|Q	-|-	2|1	0|0	ARAP1|ARAP1	72076134|72076134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.470000|0.470000	0.32858|0.32858	6.755000|6.755000	0.74914|0.74914	2.400000|2.400000	0.81607|0.81607	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.577	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		5	183	0	0	0	1	0	5	183					A	72398486	G	A	72398486	4	1	219	1	0	0	0	0	0	1	0	0	838	1328	46	2	181	2	ARAP1	11	72398486	Nonsense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	14599622	72398486	62608030	50	27372											
KDM4DL	390245	broad.mit.edu	37	chr11	94759275	94759275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttggcatgtggaagaccaCgtttgcctggcacacagagg	13	10	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:94759275C>T	ENST00000450979.2	+	1	854	c.554C>T	c.(553-555)aCg>aTg	p.T185M		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	185	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						TGGAAGACCACGTTTGCCTGG	0.537																																						ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(553-555)aCg>aTg		lysine (K)-specific demethylase 4E							93	83	86					11																	94759275		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759275C>T	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.554C>T	11.37:g.94759275C>T	ENSP00000397239:p.Thr185Met						p.T185M	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	854	+			185			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.554C>T	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	c	12.54	1.969711	0.34754	.	.	ENSG00000235268	ENST00000450979	T	0.71934	-0.61	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	T	0.79482	0.4453	M	0.62088	1.915	0.36090	D	0.843389	D	0.89917	1.0	D	0.91635	0.999	T	0.82908	-0.0224	9	0.56958	D	0.05	-11.5244	10.4356	0.44433	0.0:1.0:0.0:0.0	.	185	B2RXH2	KD4DL_HUMAN	M	185	ENSP00000397239:T185M	ENSP00000397239:T185M	T	+	2	0	KDM4DL	94398923	0.310000	0.24527	0.339000	0.25562	0.238000	0.25445	5.033000	0.64146	1.543000	0.49345	0.455000	0.32223	ACG		0.537	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		4	146	0	0	0	1	0	4	146					T	94759275	C	T	94759275	3	4	219	1	0	0	0	0	1	0	0	0	8132	536	19	1	556	1	KDM4DL	11	94759275	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	22360789	94759275	40247241	51	27373											
CUL5	8065	broad.mit.edu	37	chr11	107948957	107948957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacttgaattacctttgAagcagaaggggtaagttttt	9	4	0	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:107948957A>G	ENST00000393094.2	+	11	1784	c.1168A>G	c.(1168-1170)Aag>Gag	p.K390E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	390					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)		ATTACCTTTGAAGCAGAAGGG	0.264																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1168-1170)Aag>Gag		cullin 5							80	97	91					11																	107948957		2172	4245	6417	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107948957A>G	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.1168A>G	11.37:g.107948957A>G	ENSP00000376808:p.Lys390Glu						p.K390E	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		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)	11	1784	+		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)	390					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1168A>G	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461738	0.84425	.	.	ENSG00000166266	ENST00000393094	T	0.69806	-0.43	5.6	5.6	0.85130	Cullin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.51422	1.61	0.80722	D	1	P	0.47484	0.896	B	0.43838	0.433	T	0.70073	-0.4972	10	0.62326	D	0.03	-14.9309	15.798	0.78428	1.0:0.0:0.0:0.0	.	390	Q93034	CUL5_HUMAN	E	390	ENSP00000376808:K390E	ENSP00000376808:K390E	K	+	1	0	CUL5	107454167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.233000	0.95337	2.140000	0.66376	0.528000	0.53228	AAG		0.264	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			47	180	0	0	0	1	0	47	180					G	107948957	A	G	107948957	3	3	219	1	0	0	0	0	1	0	0	0	4059	247	9	3	1210	3	CUL5	11	107948957	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	13189682	107948957	27057559	52	27374											
CBL	867	broad.mit.edu	37	chr11	119103190	119103190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagaacccaaagctggcGctaaagaatagcccacctta	8	12	1	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:119103190G>A	ENST00000264033.4	+	2	604	c.228G>A	c.(226-228)gcG>gcA	p.A76A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	76	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				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)			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)		CAAAGCTGGCGCTAAAGAATA	0.433			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				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						c.(226-228)gcG>gcA		Cbl proto-oncogene, E3 ubiquitin protein ligase							69	70	70					11																	119103190		2199	4295	6494	SO:0001819	synonymous_variant	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	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	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119103190G>A	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.228G>A	11.37:g.119103190G>A							p.A76A	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	2	604	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	76			4H.|Cbl-PTB.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.228G>A	CCDS8418.1																																																																																				0.433	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		11	87	0	0	0	1	0	11	87					A	119103190	G	A	119103190	2	1	219	1	0	0	0	0	0	0	0	1	2700	1074	38	1		1	CBL	11	119103190	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	11154233	119103190	15903326	53	27375											
GRIN2B	2904	broad.mit.edu	37	chr12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagccatgttcttggccGtgcgcagcaggcgcaggatg	16	10	1	0	rs552036402		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|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 membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155	142	146					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met						p.T904M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2920	-			904					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	290	0	0	0	1	0	9	290					A	13717461	G	A	13717461	3	1	219	1	0	0	0	0	1	0	0	0	6780	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		13717461	120134434	54	27376											
DNM1L	10059	broad.mit.edu	37	chr12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-													caagaaattgaaaatgaaacAgaaagaatttcaggaaataa							TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:32861134_32861135delAG	ENST00000549701.1	+	4	419_420	c.345_346delAG	c.(343-348)acagaafs	p.E116fs	DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000452533.2_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs|Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs			O00429	DNM1L_HUMAN	dynamin 1-like	116	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(343-348)acaafs		dynamin 1-like																																				SO:0001589	frameshift_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32861134_32861135delAG	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.345_346delAG	12.37:g.32861134_32861135delAG	ENSP00000450399:p.Glu116fs					DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.TE128fs	p.TE115fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			4	509_510	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		115			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	DEL	ENST00000549701.1	37	c.345_346delAG	CCDS8729.1																																																																																				0.262	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		21	22						21	22	---	---	---	---	-	32861135	AG	-	32861134	7	5	219	1	0	1	0	1	0	0	0	0	4671	175	7	0	359	0	DNM1L	12	32861134	Frame_Shift_Del	DEL	AG	TCGA-FG-A6IZ-01A-11D-A31L-08	19143673	32861134	100990761	55	27377											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944870	43944870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtagccggcggccagaaAggatgcatcggcggtcaggt	18	9	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:43944870A>G	ENST00000389420.3	-	2	294	c.295T>C	c.(295-297)Ttt>Ctt	p.F99L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	99					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGGCCAGAAAGGATGCATCG	0.672																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(295-297)Ttt>Ctt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							49	52	51					12																	43944870		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944870A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.295T>C	12.37:g.43944870A>G	ENSP00000374071:p.Phe99Leu					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	294	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	99					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.295T>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	32	5.180516	0.94846	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.04502	3.61;3.61	4.08	4.08	0.47627	Peptidase M12B, propeptide (1);	0.000000	0.40728	N	0.001033	T	0.11239	0.0274	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.37384	-0.9708	10	0.19147	T	0.46	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	99	P59510	ATS20_HUMAN	L	99	ENSP00000374071:F99L;ENSP00000448341:F99L	ENSP00000374068:F99L	F	-	1	0	ADAMTS20	42231137	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	8.507000	0.90522	2.063000	0.61619	0.533000	0.62120	TTT		0.672	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	42	0	0	0	1	0	7	42					G	43944870	A	G	43944870	3	3	219	1	0	0	0	0	1	0	0	0	266	72	3	3	5588	3	ADAMTS20	12	43944870	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	11083736	43944870	89907025	56	27378											
ARID2	196528	broad.mit.edu	37	chr12	46285864	46285864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaggacaagcaggaagtcAgaagtcttctaccaagtaag	10	9	3	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:46285864A>T	ENST00000334344.6	+	18	5304	c.5132A>T	c.(5131-5133)cAg>cTg	p.Q1711L	ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1711					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)		GCAGGAAGTCAGAAGTCTTCT	0.383			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				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						c.(5131-5133)cAg>cTg		AT rich interactive domain 2 (ARID, RFX-like)							94	86	89					12																	46285864		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46285864A>T		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.5132A>T	12.37:g.46285864A>T	ENSP00000335044:p.Gln1711Leu					ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L	p.Q1711L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	18	5304	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1711					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5132A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305214	0.40795	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.33216	1.42	5.42	5.42	0.78866	.	0.060728	0.64402	D	0.000002	T	0.24736	0.0600	L	0.41236	1.265	0.45676	D	0.998591	P;P;B	0.38504	0.493;0.634;0.04	B;B;B	0.33620	0.167;0.167;0.02	T	0.04551	-1.0943	10	0.49607	T	0.09	-6.9085	12.2931	0.54829	0.8586:0.1414:0.0:0.0	.	1711;1321;1711	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	L	1711;828;828;1562;1321;319	ENSP00000335044:Q1711L	ENSP00000335044:Q1711L	Q	+	2	0	ARID2	44572131	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.147000	0.58078	2.172000	0.68678	0.533000	0.62120	CAG		0.383	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		6	41	0	0	0	1	0	6	41					T	46285864	A	T	46285864	3	4	219	1	0	0	0	0	1	0	0	0	915	188	7	5	5202	5	ARID2	12	46285864	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2340994	46285864	87566031	57	27379											
C12orf74	338809	broad.mit.edu	37	chr12	93100524	93100524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctcctccagtttgaccgGcaagccccaggccgcatctc	9	17	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:93100524G>A	ENST00000397833.3	+	2	568	c.117G>A	c.(115-117)cgG>cgA	p.R39R	C12orf74_ENST00000544406.2_Silent_p.R39R	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGTTTGACCGGCAAGCCCCAG	0.627																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(115-117)cgG>cgA		chromosome 12 open reading frame 74							38	41	40					12																	93100524		1914	4123	6037	SO:0001819	synonymous_variant	338809							g.chr12:93100524G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.117G>A	12.37:g.93100524G>A						C12orf74_ENST00000397833.3_Silent_p.R39R	p.R39R			Q32Q52	CL074_HUMAN			2	383	+			39					F5H4P0	Silent	SNP	ENST00000397833.3	37	c.117G>A	CCDS41819.1																																																																																				0.627	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		4	103	0	0	0	1	0	4	103					A	93100524	G	A	93100524	2	1	219	1	0	0	0	0	0	0	0	1	1714	1190	42	2		2	C12orf74	12	93100524	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	46814660	93100524	40751371	58	27380											
SPATA13	221178	broad.mit.edu	37	chr13	24823639	24823639	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgatggcccctggaggCgaagctcatcacaggatgag	13	12	2	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:24823639C>T	ENST00000382095.4	+	0	210				SPATA13_ENST00000424834.2_Nonsense_Mutation_p.R560*|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*|SPATA13_ENST00000474317.1_3'UTR	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCCTGGAGGCGAAGCTCATC	0.537																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(1678-1680)Cga>Tga		spermatogenesis associated 13							18	21	20					13																	24823639		692	1591	2283	SO:0001623	5_prime_UTR_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24823639C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-198C>T	13.37:g.24823639C>T						SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*|SPATA13_ENST00000382095.4_5'UTR	p.R560*			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	5	2151	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	218			PH.		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Nonsense_Mutation	SNP	ENST00000382095.4	37	c.1678C>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.049323|6.049323	0.97236|0.97236	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108	T|.	0.78595|.	-1.19|.	5.28|5.28	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|.	0.34106|.	0.0886|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10042|.	-1.0647|.	5|.	.|0.05525	.|T	.|0.97	.|.	12.3113|12.3113	0.54929|0.54929	0.4089:0.5911:0.0:0.0|0.4089:0.5911:0.0:0.0	.|.	.|.	.|.	.|.	V|X	597|560	ENSP00000398560:A597V|.	.|ENSP00000371542:R560X	A|R	+|+	2|1	0|2	SPATA13|SPATA13	23721639|23721639	0.977000|0.977000	0.34250|0.34250	0.750000|0.750000	0.31169|0.31169	0.077000|0.077000	0.17291|0.17291	2.429000|2.429000	0.44758|0.44758	0.744000|0.744000	0.32741|0.32741	0.462000|0.462000	0.41574|0.41574	GCG|CGA		0.537	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		8	1	0	0	0	1	0	8	1					T	24823639	C	T	24823639	1	4	219	0	1	0	0	0	0	0	0	0	14999	760	27	1		1	SPATA13	13	24823639	5'UTR	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		24823639	90346239	59	27381											
SPG20	23111	broad.mit.edu	37	chr13	36888512	36888512	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttctggattgccttaccAgtaatctcagcacctttgac	6	13	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:36888512A>G	ENST00000451493.1	-	6	1552	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	SPG20_ENST00000438666.2_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T|SPG20_ENST00000355182.4_Silent_p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	445					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCCTTACCAGTAATCTCAG	0.408																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1333-1335)acT>acC		spastic paraplegia 20 (Troyer syndrome)							100	101	101					13																	36888512		2203	4300	6503	SO:0001819	synonymous_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36888512A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1335T>C	13.37:g.36888512A>G						SPG20_ENST00000355182.4_Silent_p.T445T|SPG20_ENST00000438666.2_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T	p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	6	1552	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	445					O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	c.1335T>C	CCDS9356.1																																																																																				0.408	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			22	54	0	0	0	1	0	22	54					G	36888512	A	G	36888512	2	3	219	1	0	0	0	0	0	0	0	1	15041	175	7	3		3	SPG20	13	36888512	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	12064873	36888512	78281366	60	27382											
TPP2	7174	broad.mit.edu	37	chr13	103282539	103282539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatacttggtcttctagagGacctaggtaggtgcaggtag	13	6	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:103282539G>A	ENST00000376065.4	+	10	1274	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TPP2_ENST00000376052.3_Missense_Mutation_p.G413E	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	413	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)					TCTTCTAGAGGACCTAGGTAG	0.408																																						ENST00000376052.3																			0				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						c.(1237-1239)gGa>gAa		tripeptidyl peptidase II							108	97	101					13																	103282539		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103282539G>A	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.1238G>A	13.37:g.103282539G>A	ENSP00000365233:p.Gly413Glu					TPP2_ENST00000376065.4_Missense_Mutation_p.G413E	p.G413E			P29144	TPP2_HUMAN			10	1254	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		413					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1238G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017130	0.93404	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.62498	0.02;0.02	5.8	5.8	0.92144	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.86830	0.6027	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90207	0.4261	10	0.87932	D	0	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	413	P29144	TPP2_HUMAN	E	413	ENSP00000365233:G413E;ENSP00000365220:G413E	ENSP00000365220:G413E	G	+	2	0	TPP2	102080540	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.186000	0.94906	2.758000	0.94735	0.563000	0.77884	GGA		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			12	41	0	0	0	1	0	12	41					A	103282539	G	A	103282539	3	1	219	1	0	0	0	0	1	0	0	0	16409	1174	41	2	1276	2	TPP2	13	103282539	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	66394027	103282539	11887339	61	27383											
TDP1	55775	broad.mit.edu	37	chr14	90509460	90509460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcaaagcaccggatacGcatgggaacatgtgggtgcc	13	9	1	0	rs75808917	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:90509460G>A	ENST00000335725.4	+	17	2050	c.1800G>A	c.(1798-1800)acG>acA	p.T600T	TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000357382.3_Silent_p.T361T|TDP1_ENST00000555880.1_Missense_Mutation_p.R564H|TDP1_ENST00000393452.3_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	600					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CACCGGATACGCATGGGAACA	0.418								Repair of DNA-protein crosslinks					G|||	9	0.00179712	0.0068	0.0	5008	,	,		19577	0.0		0.0	False		,,,				2504	0.0					ENST00000555880.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1690-1692)cGc>cAc	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1		G	,	38,4368	42.3+/-75.8	1,36,2166	114	101	105		1800,1800	-6.6	0.9	14	dbSNP_132	105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TDP1	NM_001008744.1,NM_018319.3	,	1,36,6466	AA,AG,GG		0.0,0.8625,0.2922	,	600/609,600/609	90509460	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90509460G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1800G>A	14.37:g.90509460G>A						TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000335725.4_Silent_p.T600T|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000357382.3_Silent_p.T361T	p.R564H			Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	14	1701	+		all_cancers(154;0.185)	0					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1691G>A	CCDS9888.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	16.51	3.142164	0.57044	0.008625	0.0	ENSG00000042088	ENST00000555880	T	0.32753	1.44	5.55	-6.59	0.01830	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	7	.	.	.	-31.3845	3.111	0.06359	0.3284:0.4169:0.1507:0.104	.	564	G3V2F4	.	H	564	ENSP00000450628:R564H	.	R	+	2	0	TDP1	89579213	0.154000	0.22792	0.913000	0.36048	0.990000	0.78478	-1.173000	0.03108	-0.523000	0.06409	-0.300000	0.09419	CGC		0.418	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		5	75	0	0	0	1	0	5	75					A	90509460	G	A	90509460	2	1	219	1	0	0	0	0	0	0	0	1	15725	1074	38	1		1	TDP1	14	90509460	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		90509460	16840080	62	27384											
CATSPERB	79820	broad.mit.edu	37	chr14	92083964	92083964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaaactttgctagctgCagaaattgttattacataac	6	6	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:92083964C>T	ENST00000256343.3	-	20	2533	c.2377G>A	c.(2377-2379)Gca>Aca	p.A793T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	793					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGCTAGCTGCAGAAATTGTT	0.299																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2377-2379)Gca>Aca		catsper channel auxiliary subunit beta							78	72	74					14																	92083964		2201	4298	6499	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92083964C>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2377G>A	14.37:g.92083964C>T	ENSP00000256343:p.Ala793Thr						p.A793T	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			20	2533	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	793					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2377G>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583654	0.46006	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.44	-0.938	0.10412	.	2.577270	0.01550	N	0.019654	T	0.28200	0.0696	N	0.25647	0.755	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.08827	-1.0703	10	0.38643	T	0.18	-0.8415	1.7742	0.03018	0.1303:0.4503:0.1266:0.2928	.	793	Q9H7T0	CTSRB_HUMAN	T	793	ENSP00000256343:A793T	ENSP00000256343:A793T	A	-	1	0	CATSPERB	91153717	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.672000	0.05244	-0.380000	0.07894	0.467000	0.42956	GCA		0.299	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	36	0	0	0	1	0	3	36					T	92083964	C	T	92083964	3	4	219	1	0	0	0	0	1	0	0	0	2691	710	25	2	1005	2	CATSPERB	14	92083964	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	1574504	92083964	15265576	63	27385											
SLC12A6	9990	broad.mit.edu	37	chr15	34528987	34528987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatcatcaaagtgcgctcGtaagtatatgctgatatatc	7	9	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:34528987G>A	ENST00000354181.3	-	23	3456	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	988					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGTGCGCTCGTAAGTATATG	0.433																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2962-2964)taC>taT		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						181	156	164					15																	34528987		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528987G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2964C>T	15.37:g.34528987G>A						SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y	p.Y988Y			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	23	3456	-		all_lung(180;2.78e-08)	988					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.2964C>T	CCDS58352.1																																																																																				0.433	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		48	63	0	0	0	1	0	48	63					A	34528987	G	A	34528987	2	1	219	1	0	0	0	0	0	0	0	1	14387	1140	40	1		1	SLC12A6	15	34528987	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		34528987	68002405	64	27386											
PAK6	56924	broad.mit.edu	37	chr15	40564820	40564820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattggcgagggctccacCggcatcgtctgcttggcccg	14	13	1	1	rs149826022		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:40564820C>T	ENST00000542403.2	+	4	1365	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000455577.2_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.T418T	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGGGCTCCACCGGCATCGTCT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19164	0.001		0.0	False		,,,				2504	0.0					ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1252-1254)acC>acT		p21 protein (Cdc42/Rac)-activated kinase 6		C	,,	4,4402	8.1+/-20.4	0,4,2199	42	39	40		1254,1254,1254	-1.7	1	15	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PAK6	NM_001128628.1,NM_001128629.1,NM_020168.4	,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,	418/682,418/682,418/682	40564820	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564820C>T	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1254C>T	15.37:g.40564820C>T						PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000542403.2_Silent_p.T418T|PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000453867.1_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR	p.T418T	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	2166	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	418			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Silent	SNP	ENST00000542403.2	37	c.1254C>T	CCDS10054.1																																																																																				0.637	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			41	51	0	0	0	1	0	41	51					T	40564820	C	T	40564820	2	4	219	1	0	0	0	0	0	0	0	1	11404	639	23	1		1	PAK6	15	40564820	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	6035833	40564820	61966572	65	27387											
E4F1	1877	broad.mit.edu	37	chr16	2278405	2278405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagatgcggccgctgcCaggcagagttcaccgccttg	13	14	1	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:2278405C>G	ENST00000301727.4	+	2	238	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E|E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	64	Required for ubiquitin ligase activity.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CGGCCGCTGCCAGGCAGAGTT	0.662																																						ENST00000301727.4																			0				ovary(1)	1						c.(190-192)Cag>Gag		E4F transcription factor 1							38	41	40					16																	2278405		2196	4300	6496	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2278405C>G	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.190C>G	16.37:g.2278405C>G	ENSP00000301727:p.Gln64Glu					E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E|E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E	p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			2	238	+			64			Required for ubiquitin ligase activity.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.190C>G	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349481	0.61183	.	.	ENSG00000167967	ENST00000301727	T	0.31769	1.48	4.78	4.78	0.61160	Zinc finger, C2H2-like (1);	0.134138	0.51477	D	0.000085	T	0.36026	0.0952	L	0.29908	0.895	0.51482	D	0.999924	P;P;P	0.49862	0.929;0.698;0.505	P;P;B	0.51974	0.686;0.477;0.301	T	0.22695	-1.0209	10	0.72032	D	0.01	-18.2502	16.3989	0.83632	0.0:1.0:0.0:0.0	.	60;64;64	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	E	64	ENSP00000301727:Q64E	ENSP00000301727:Q64E	Q	+	1	0	E4F1	2218406	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.969000	0.49232	2.203000	0.70933	0.462000	0.41574	CAG		0.662	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		27	30	0	0	0	1	0	27	30					G	2278405	C	G	2278405	3	3	219	1	0	0	0	0	1	0	0	0	4874	595	21	4	196	4	E4F1	16	2278405	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		2278405	88076348	66	27388											
MYH11	4629	broad.mit.edu	37	chr16	15876277	15876277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttcttcactgttttggCgttgccgaaagcctccagaa	10	11	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:15876277C>T	ENST00000300036.5	-	6	800	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MYH11_ENST00000396324.3_Missense_Mutation_p.A238T|MYH11_ENST00000576790.2_Missense_Mutation_p.A231T|MYH11_ENST00000452625.2_Missense_Mutation_p.A238T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	231	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTGTTTTGGCGTTGCCGAAA	0.468			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(691-693)Gcc>Acc		myosin, heavy chain 11, smooth muscle							166	151	156					16																	15876277		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15876277C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.691G>A	16.37:g.15876277C>T	ENSP00000300036:p.Ala231Thr					MYH11_ENST00000576790.1_Missense_Mutation_p.A231T|MYH11_ENST00000396324.3_Missense_Mutation_p.A238T|MYH11_ENST00000452625.2_Missense_Mutation_p.A238T|MYH11_ENST00000300036.5_Missense_Mutation_p.A231T	p.A231T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			6	797	-			231			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.691G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465591	0.96257	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.33	5.33	0.75918	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.99897	4.91	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.942;0.991;0.991;0.991;0.991	D	0.98059	1.0392	10	0.72032	D	0.01	.	17.9519	0.89056	0.0:1.0:0.0:0.0	.	238;231;238;231;238	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	231;231;238;238;238	ENSP00000300036:A231T;ENSP00000345136:A231T;ENSP00000379616:A238T;ENSP00000407821:A238T	ENSP00000300036:A231T	A	-	1	0	MYH11	15783778	1.000000	0.71417	0.985000	0.45067	0.964000	0.63967	7.511000	0.81718	2.637000	0.89404	0.561000	0.74099	GCC		0.468	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	99	0	0	0	1	0	4	99					T	15876277	C	T	15876277	3	4	219	1	0	0	0	0	1	0	0	0	10031	768	27	1	5406	1	MYH11	16	15876277	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	13597872	15876277	74478476	67	27389											
IGSF6	10261	broad.mit.edu	37	chr16	21655635	21655635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggagtatgaaggccacGcacacaccggtcacatagac	12	11	1	3	rs183946841	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:21655635G>A	ENST00000268389.4	-	3	571	c.510C>T	c.(508-510)tgC>tgT	p.C170C	RNU6-196P_ENST00000384315.1_RNA|RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	170					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGAAGGCCACGCACACACCGG	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		20535	0.002		0.0	False		,,,				2504	0.0					ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(508-510)tgC>tgT		immunoglobulin superfamily, member 6							123	114	117					16																	21655635		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21655635G>A	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.510C>T	16.37:g.21655635G>A						METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.C170C	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	3	571	-			170					Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.510C>T	CCDS10599.1																																																																																				0.413	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			8	171	0	0	0	1	0	8	171					A	21655635	G	A	21655635	2	1	219	1	0	0	0	0	0	0	0	1	7603	1079	38	1		1	IGSF6	16	21655635	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	5779358	21655635	68699118	68	27390											
SLC5A11	115584	broad.mit.edu	37	chr16	24883542	24883542	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctacattgctggtcaggTgagtcgggggacattgggat	15	7	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:24883542T>G	ENST00000347898.3	+	5	994		c.e5+2		SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site|SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGGTCAGGTGAGTCGGGGG	0.552																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.e5+2		solute carrier family 5 (sodium/inositol cotransporter), member 11							271	247	255					16																	24883542		2197	4300	6497	SO:0001630	splice_region_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24883542T>G	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.372+2T>G	16.37:g.24883542T>G						SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site		NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	5	994	+									Splice_Site	SNP	ENST00000347898.3	37		CCDS10625.1	.	.	.	.	.	.	.	.	.	.	t	17.95	3.512773	0.64522	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4416	0.55627	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A11	24791043	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.598000	0.74122	1.830000	0.53286	0.364000	0.22116	.		0.552	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	Intron	13	295	0	0	0	1	0	13	295					G	24883542	T	G	24883542	5	3	219	1	0	0	0	0	0	0	1	0	14663	1710	59	5	388	5	SLC5A11	16	24883542	Splice_Site	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	3227907	24883542	65471211	69	27391											
YPEL3	83719	broad.mit.edu	37	chr16	30106634	30106634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcacagctatacctcCggtgacaatcatccaagtag	10	11	1	1	rs374762947		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:30106634C>T	ENST00000398838.4	-	2	269	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000562641.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000565479.1_5'UTR	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	19						nucleus (GO:0005634)				endometrium(1)|lung(2)	3						GCTATACCTCCGGTGACAATC	0.642																																						ENST00000562641.1																			0				endometrium(1)|lung(2)	3						c.(169-171)cGg>cAg		yippee-like 3 (Drosophila)							76	86	83					16																	30106634		2129	4253	6382	SO:0001583	missense	83719					nucleolus		g.chr16:30106634C>T	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.56G>A	16.37:g.30106634C>T	ENSP00000381818:p.Arg19Gln					YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398838.4_Missense_Mutation_p.R19Q|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q	p.R57Q			P61236	YPEL3_HUMAN			1	699	-			19					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Missense_Mutation	SNP	ENST00000398838.4	37	c.170G>A	CCDS45459.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334877	0.81801	.	.	ENSG00000090238	ENST00000398841;ENST00000398838	.	.	.	3.52	3.52	0.40303	.	0.000000	0.64402	D	0.000002	T	0.75989	0.3925	M	0.74467	2.265	0.58432	D	0.999998	D;D	0.76494	0.993;0.999	P;D	0.65874	0.841;0.939	T	0.79678	-0.1703	9	0.59425	D	0.04	-3.6633	13.9974	0.64411	0.0:1.0:0.0:0.0	.	19;57	P61236;P61236-2	YPEL3_HUMAN;.	Q	57;19	.	ENSP00000381818:R19Q	R	-	2	0	YPEL3	30014135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.651000	0.67951	1.811000	0.52892	0.561000	0.74099	CGG		0.642	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477		72	96	0	0	0	1	0	72	96					T	30106634	C	T	30106634	3	4	219	1	0	0	0	0	1	0	0	0	17488	652	23	1	319	1	YPEL3	16	30106634	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	5223092	30106634	60248119	70	27392											
SREBF1	6720	broad.mit.edu	37	chr17	17723758	17723758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagggtctgtgccccCtgccccactcccagcatagg	12	17	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:17723758C>T	ENST00000261646.5	-	2	353	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000355815.4_Missense_Mutation_p.G87R|SREBF1_ENST00000395757.1_5'Flank|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	57	Transcriptional activation (acidic).				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTGTGCCCCCTGCCCCACTC	0.587																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(259-261)Ggg>Agg		sterol regulatory element binding transcription factor 1							59	53	55					17																	17723758		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17723758C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.169G>A	17.37:g.17723758C>T	ENSP00000261646:p.Gly57Arg					SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000261646.5_Missense_Mutation_p.G57R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R	p.G87R	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			3	428	-			57			Pro/Ser-rich.		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.259G>A	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.245|2.245	-0.372814|-0.372814	0.05034|0.05034	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000418712;ENST00000435530|ENST00000395751	T;T;T;T|.	0.78364|.	0.56;0.59;0.59;-1.17|.	3.28|3.28	3.28|3.28	0.37604|0.37604	.|.	0.602398|.	0.16129|.	N|.	0.228290|.	T|T	0.46776|0.46776	0.1410|0.1410	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B;B;B;D|.	0.89917|.	0.027;0.01;0.005;1.0|.	B;B;B;D|.	0.91635|.	0.008;0.005;0.017;0.999|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.87932|.	D|.	0|.	-11.0381|-11.0381	10.4114|10.4114	0.44296|0.44296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	57;33;57;87|.	B0I4X3;B0I4X4;P36956;P36956-4|.	.;.;SRBP1_HUMAN;.|.	R|K	57;87;57;33;57|64	ENSP00000345822:G57R;ENSP00000348069:G87R;ENSP00000261646:G57R;ENSP00000413389:G57R|.	ENSP00000261646:G57R|.	G|R	-|-	1|2	0|0	SREBF1|SREBF1	17664483|17664483	0.001000|0.001000	0.12720|0.12720	0.018000|0.018000	0.16275|0.16275	0.045000|0.045000	0.14185|0.14185	0.721000|0.721000	0.25911|0.25911	2.170000|2.170000	0.68504|0.68504	0.555000|0.555000	0.69702|0.69702	GGG|AGG		0.587	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		11	70	0	0	0	1	0	11	70					T	17723758	C	T	17723758	3	4	219	1	0	0	0	0	1	0	0	0	15140	681	24	2	3346	2	SREBF1	17	17723758	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		17723758	63471452	71	27393											
SLFN12	55106	broad.mit.edu	37	chr17	33738466	33738466	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaaaactggtctctcagaGacttgagtctctttaaggct	10	8	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:33738466G>T	ENST00000394562.1	-	6	2151	c.1628C>A	c.(1627-1629)tCt>tAt	p.S543Y	SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y|SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	543							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTCAGAGACTTGAGTCT	0.343																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1627-1629)tCt>tAt		schlafen family member 12							50	52	52					17																	33738466		2202	4297	6499	SO:0001583	missense	55106						ATP binding	g.chr17:33738466G>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1628C>A	17.37:g.33738466G>T	ENSP00000378063:p.Ser543Tyr					SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y|SLFN12_ENST00000460530.1_5'UTR	p.S543Y			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2151	-		Ovarian(249;0.17)	543					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.1628C>A	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666274	0.29604	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.05382	3.45;3.45;3.45	2.92	1.93	0.25924	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	P	0.44044	0.825	P	0.45881	0.496	T	0.38112	-0.9676	9	0.72032	D	0.01	.	5.8426	0.18643	0.1551:0.0:0.8449:0.0	.	543	Q8IYM2	SLN12_HUMAN	Y	543	ENSP00000378063:S543Y;ENSP00000302077:S543Y;ENSP00000394903:S543Y	ENSP00000302077:S543Y	S	-	2	0	SLFN12	30762579	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.454000	0.21827	0.546000	0.28920	0.430000	0.28490	TCT		0.343	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		29	40	1	0	4.87955e-14	1	4.87955e-14	29	40					T	33738466	G	T	33738466	3	4	219	1	0	0	0	0	1	0	0	0	14734	942	33	4	112	4	SLFN12	17	33738466	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	16014708	33738466	47456744	72	27394											
CALCOCO2	10241	broad.mit.edu	37	chr17	46925765	46925765	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtccggggagcaagtattcCtttccaattccgtccagaaa	10	11	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:46925765C>G	ENST00000258947.3	+	4	466	c.365C>G	c.(364-366)cCt>cGt	p.P122R	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GCAAGTATTCCTTTCCAATTC	0.448																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(364-366)cCt>cGt		calcium binding and coiled-coil domain 2							184	157	166					17																	46925765		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925765C>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.365C>G	17.37:g.46925765C>G	ENSP00000258947:p.Pro122Arg					CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	p.P122R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			4	466	+			122					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.365C>G	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634301	0.67130	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000513119;ENST00000416445;ENST00000508679;ENST00000505071;ENST00000502761	T;T;T;T;T;T;T;T;T	0.58940	2.95;2.95;2.95;0.3;0.54;2.95;0.63;2.95;2.95	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.80654	0.4664	M	0.87758	2.905	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;0.999;0.999	D	0.83497	0.0073	10	0.87932	D	0	-7.4156	19.2551	0.93943	0.0:1.0:0.0:0.0	.	122;146;143;122	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	R	122;143;146;94;50;122;50;122;122	ENSP00000258947:P122R;ENSP00000424352:P143R;ENSP00000398523:P146R;ENSP00000425692:P94R;ENSP00000425090:P50R;ENSP00000406974:P122R;ENSP00000423437:P50R;ENSP00000422697:P122R;ENSP00000424889:P122R	ENSP00000258947:P122R	P	+	2	0	CALCOCO2	44280764	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	6.134000	0.71689	2.661000	0.90470	0.591000	0.81541	CCT		0.448	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		7	133	0	0	0	1	0	7	133					G	46925765	C	G	46925765	3	3	219	1	0	0	0	0	1	0	0	0	2578	681	24	4	375	4	CALCOCO2	17	46925765	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	13187299	46925765	34269445	73	27395											
SLC16A6	9120	broad.mit.edu	37	chr17	66267106	66267106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgtgagtccctcctaTtgttccaaccataaacccaa	6	12	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:66267106T>C	ENST00000327268.4	-	6	1359	c.1195A>G	c.(1195-1197)Ata>Gta	p.I399V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	399					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCCTCCTATTGTTCCAACC	0.443																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(1195-1197)Ata>Gta		solute carrier family 16, member 6	Pyruvic acid(DB00119)						124	111	115					17																	66267106		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267106T>C	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1195A>G	17.37:g.66267106T>C	ENSP00000319991:p.Ile399Val					SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V|ARSG_ENST00000448504.2_Intron	p.I399V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1359	-	all_cancers(12;1.24e-09)		399					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1195A>G	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	T	0.087	-1.172822	0.01646	.	.	ENSG00000108932	ENST00000327268	T	0.55234	0.53	4.37	2.27	0.28462	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.215502	0.38897	N	0.001521	T	0.15955	0.0384	N	0.00855	-1.145	0.26731	N	0.970596	B	0.02656	0.0	B	0.06405	0.002	T	0.34976	-0.9807	10	0.02654	T	1	.	7.7434	0.28853	0.0:0.8079:0.0:0.1921	.	399	O15403	MOT7_HUMAN	V	399	ENSP00000319991:I399V	ENSP00000319991:I399V	I	-	1	0	SLC16A6	63778701	0.818000	0.29161	0.002000	0.10522	0.745000	0.42441	1.456000	0.35201	0.329000	0.23460	0.397000	0.26171	ATA		0.443	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		35	143	0	0	0	1	0	35	143					C	66267106	T	C	66267106	3	2	219	1	0	0	0	0	1	0	0	0	14412	1493	52	3	384	3	SLC16A6	17	66267106	Missense_Mutation	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	19341341	66267106	14928104	74	27396											
ZNRF4	148066	broad.mit.edu	37	chr19	5456174	5456174	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcgcaggacctgcgggtCatcctgggctgcaacaagtc	13	14	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:5456174C>T	ENST00000222033.4	+	1	749	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	224	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCTGCGGGTCATCCTGGGCT	0.677																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(670-672)gtC>gtT		zinc and ring finger 4							50	53	52					19																	5456174		2184	4269	6453	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456174C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.672C>T	19.37:g.5456174C>T							p.V224V	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	749	+			224			PA.		A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.672C>T	CCDS42475.1																																																																																				0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		11	132	0	0	0	1	0	11	132					T	5456174	C	T	5456174	2	4	219	1	0	0	0	0	0	0	0	1	18211	813	29	2		2	ZNRF4	19	5456174	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		5456174	53672809	75	27397											
EMR1	2015	broad.mit.edu	37	chr19	6924761	6924761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcctcgtcttggccatcGccacctttctgctgtgtcgc	10	15	2	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:6924761G>A	ENST00000312053.4	+	15	1901	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T	EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	622					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTGGCCATCGCCACCTTTCT	0.527																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1864-1866)Gcc>Acc		egf-like module containing, mucin-like, hormone receptor-like 1							247	160	189					19																	6924761		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6924761G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1864G>A	19.37:g.6924761G>A	ENSP00000311545:p.Ala622Thr					EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T|EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000250572.8_Intron	p.A622T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			15	1901	+	all_hematologic(4;0.166)		622					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1864G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377049	0.24857	.	.	ENSG00000174837	ENST00000312053;ENST00000381404;ENST00000381407;ENST00000450315	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	3.48	-3.1	0.05315	GPCR, family 2-like (1);	.	.	.	.	T	0.18173	0.0436	L	0.31371	0.925	0.19575	N	0.999963	B;B;P;B	0.40731	0.231;0.452;0.728;0.393	B;B;B;B	0.33454	0.013;0.068;0.164;0.05	T	0.11717	-1.0576	9	0.46703	T	0.11	.	4.1501	0.10234	0.4632:0.18:0.3568:0.0	.	445;481;570;622	E7EPX9;B7Z486;E9PD45;Q14246	.;.;.;EMR1_HUMAN	T	622;570;481;445	ENSP00000311545:A622T;ENSP00000370811:A570T;ENSP00000370814:A481T;ENSP00000405974:A445T	ENSP00000311545:A622T	A	+	1	0	EMR1	6875761	0.000000	0.05858	0.016000	0.15963	0.649000	0.38597	-0.879000	0.04188	-0.524000	0.06400	-0.254000	0.11334	GCC		0.527	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			4	96	0	0	0	1	0	4	96					A	6924761	G	A	6924761	3	1	219	1	0	0	0	0	1	0	0	0	5104	1087	38	1	1922	1	EMR1	19	6924761	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	1468587	6924761	52204222	76	27398											
MAST3	23031	broad.mit.edu	37	chr19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggttagcttcgatgagcCgcaggaggaggccactgggc	18	9	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1277							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						TTCGATGAGCCGCAGGAGGAG	0.667																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(3829-3831)cCg>cTg		microtubule associated serine/threonine kinase 3							18	21	20					19																	18260436		2098	4216	6314	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18260436C>T	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.3830C>T	19.37:g.18260436C>T	ENSP00000262811:p.Pro1277Leu					AC007192.6_ENST00000600364.1_RNA	p.P1277L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			27	3830	+			1277					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.3830C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965291	0.34659	.	.	ENSG00000099308	ENST00000262811	T	0.70516	-0.49	4.56	3.28	0.37604	.	0.286267	0.32655	N	0.005808	T	0.57475	0.2056	L	0.32530	0.975	0.43368	D	0.995457	B	0.06786	0.001	B	0.04013	0.001	T	0.48736	-0.9009	10	0.25106	T	0.35	-8.5681	12.3184	0.54971	0.4035:0.5965:0.0:0.0	.	1277	O60307	MAST3_HUMAN	L	1277	ENSP00000262811:P1277L	ENSP00000262811:P1277L	P	+	2	0	MAST3	18121436	0.844000	0.29557	0.894000	0.35097	0.772000	0.43724	0.398000	0.20899	0.674000	0.31244	0.313000	0.20887	CCG		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	48	0	0	0	1	0	4	48					T	18260436	C	T	18260436	3	4	219	1	0	0	0	0	1	0	0	0	9326	652	23	1	3936	1	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	11335675	18260436	40868547	77	27399											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	13	8	2	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:42799051G>T	ENST00000575354.2	+	20	4575	c.4535G>T	c.(4534-4536)cGt>cTt	p.R1512L	CIC_ENST00000572681.2_Missense_Mutation_p.R2418L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					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)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7252-7254)cGt>cTt		capicua transcriptional repressor							51	51	51					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>T	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.4535G>T	19.37:g.42799051G>T	ENSP00000458663:p.Arg1512Leu					CIC_ENST00000160740.3_Missense_Mutation_p.R1510L|CIC_ENST00000575354.2_Missense_Mutation_p.R1512L	p.R2418L			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488509	0.84854	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.64875	0.2638	L	0.29908	0.895	0.48901	D	0.999725	D	0.65815	0.995	D	0.70227	0.968	T	0.68712	-0.5336	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	L	1512	.	ENSP00000160740:R1512L	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			62	6	1	0	5.82089e-37	1	5.87581e-37	62	6					T	42799051	G	T	42799051	3	4	219	1	0	0	0	0	1	0	0	0	3424	1145	40	4	4613	4	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	24538615	42799051	16329932	78	27400											
VN1R2	317701	broad.mit.edu	37	chr19	53762633	53762633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctttccttcatcacctaCgtttatttagctctcttcga	4	14	3	0	rs201104873		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:53762633C>T	ENST00000341702.3	+	1	1089	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	335					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)		TCATCACCTACGTTTATTTAG	0.443																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1003-1005)taC>taT		vomeronasal 1 receptor 2							261	230	241					19																	53762633		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762633C>T	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.1005C>T	19.37:g.53762633C>T						VN1R2_ENST00000598458.1_Intron	p.Y335Y	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1089	+			335					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.1005C>T	CCDS12862.1																																																																																				0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		19	97	0	0	0	1	0	19	97					T	53762633	C	T	53762633	2	4	219	1	0	0	0	0	0	0	0	1	17176	547	19	1		1	VN1R2	19	53762633	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	10963582	53762633	5366350	79	27401											
SIRPA	140885	broad.mit.edu	37	chr20	1905410	1905410	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctattccatgtggtccctagAgaacactggatctaatgaac	8	10	1	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:1905410A>G	ENST00000358771.4	+	5	1240	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	SIRPA_ENST00000400068.3_Splice_Site_p.E363G|SIRPA_ENST00000356025.3_Splice_Site_p.E363G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	363					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGGTCCCTAGAGAACACTGGA	0.488																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.e5-1		signal-regulatory protein alpha							238	180	199					20																	1905410		2203	4300	6503	SO:0001630	splice_region_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1905410A>G	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1088-1A>G	20.37:g.1905410A>G						SIRPA_ENST00000400068.3_Splice_Site_p.E363_splice|SIRPA_ENST00000356025.3_Splice_Site_p.E363_splice	p.E363_splice	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	5	1240	+			363					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Splice_Site	SNP	ENST00000358771.4	37	c.1087_splice	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	A	7.939	0.742379	0.15642	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09350	2.99;2.99;2.99	4.36	-7.15	0.01521	Immunoglobulin-like fold (1);	2.085860	0.02101	N	0.053976	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.27536	-1.0071	9	.	.	.	.	8.9705	0.35903	0.2123:0.2598:0.5279:0.0	.	343;363;363	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	G	363	ENSP00000382941:E363G;ENSP00000348307:E363G;ENSP00000351621:E363G	.	E	+	2	0	SIRPA	1853410	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	-0.299000	0.08254	-1.636000	0.01533	-0.353000	0.07706	GAG		0.488	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	Missense_Mutation	4	57	0	0	0	1	0	4	57					G	1905410	A	G	1905410	5	3	219	1	0	0	0	0	0	0	1	0	14332	318	11	3	1106	3	SIRPA	20	1905410	Splice_Site	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08		1905410	61120110	80	27402											
TMC2	117532	broad.mit.edu	37	chr20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggagaattaccacccaCgcactggactgaagtggcag	11	13	0	2	rs372275239		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:2591146C>T	ENST00000358864.1	+	12	1510	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	499					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCACCCACGCACTGGACT	0.532																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1495-1497)Cgc>Tgc		transmembrane channel-like 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	235	195	209		1495	5.2	1	20		209	0,8600		0,0,4300	no	missense	TMC2	NM_080751.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	499/907	2591146	1,13005	2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2591146C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1495C>T	20.37:g.2591146C>T	ENSP00000351732:p.Arg499Cys					TMC2_ENST00000496948.1_3'UTR	p.R499C	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			12	1510	+			499					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1495C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931469	0.92389	2.27E-4	0.0	ENSG00000149488	ENST00000358864	T	0.50001	0.76	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.932;0.998;0.988;0.985	T	0.78674	-0.2112	10	0.62326	D	0.03	-14.5032	16.6349	0.85050	0.0:1.0:0.0:0.0	.	330;331;499;499	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	C	499	ENSP00000351732:R499C	ENSP00000351732:R499C	R	+	1	0	TMC2	2539146	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.757000	0.85209	2.601000	0.87937	0.650000	0.86243	CGC		0.532	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			12	148	0	0	0	1	0	12	148					T	2591146	C	T	2591146	3	4	219	1	0	0	0	0	1	0	0	0	15982	536	19	1	1541	1	TMC2	20	2591146	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	685736	2591146	60434374	81	27403											
JAG1	182	broad.mit.edu	37	chr20	10620233	10620233	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccagtttgggtgttttgtCggcgtgccgttggggggctt	18	7	0	0	rs201572666		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:10620233C>T	ENST00000254958.5	-	26	4085	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P	JAG1_ENST00000423891.2_Silent_p.P1031P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1190					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542									Alagille Syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		17853	0.0		0.0	False		,,,				2504	0.0					ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3568-3570)ccG>ccA		jagged 1		C		0,4406		0,0,2203	234	214	221		3570	0.8	1	20		221	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAG1	NM_000214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1190/1219	10620233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620233C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3570G>A	20.37:g.10620233C>T						JAG1_ENST00000423891.2_Silent_p.P1031P	p.P1190P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	4085	-			1190					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.3570G>A	CCDS13112.1																																																																																				0.542	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		17	325	0	0	0	1	0	17	325					T	10620233	C	T	10620233	2	4	219	1	0	0	0	0	0	0	0	1	7934	871	31	1		1	JAG1	20	10620233	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	8029087	10620233	52405287	82	27404											
NCOA6	23054	broad.mit.edu	37	chr20	33345723	33345723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgttgCtgctgctgctgctgctgctg	14	10	0	0	rs546356291	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		18338	0.002		0.0	False		,,,				2504	0.001					ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(826-828)caG>caA		nuclear receptor coactivator 6							93	71	78					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345723C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.828G>A	20.37:g.33345723C>T						NCOA6_ENST00000359003.2_Silent_p.Q276Q	p.Q276Q			Q14686	NCOA6_HUMAN			8	3398	-			276			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.828G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	70	0	0	0	1	0	4	70					T	33345723	C	T	33345723	2	4	219	1	0	0	0	0	0	0	0	1	10233	796	28	2		2	NCOA6	20	33345723	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	22725490	33345723	29679797	83	27405											
LRRC3	81543	broad.mit.edu	37	chr21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactcagcgccaagataCgcctgtcccacaaccccctg	7	18	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(421-423)Cgc>Tgc		leucine rich repeat containing 3							40	42	41					21																	45876948		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876948C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.421C>T	21.37:g.45876948C>T	ENSP00000291592:p.Arg141Cys						p.R141C	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	738	+		Breast(209;0.00908)	141					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.421C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163856	0.78226	.	.	ENSG00000160233	ENST00000291592	D	0.90385	-2.66	4.82	4.82	0.62117	.	0.186781	0.46758	D	0.000271	D	0.93344	0.7878	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.63703	0.917	D	0.92710	0.6182	10	0.39692	T	0.17	-60.251	17.9134	0.88942	0.0:1.0:0.0:0.0	.	141	Q9BY71	LRRC3_HUMAN	C	141	ENSP00000291592:R141C	ENSP00000291592:R141C	R	+	1	0	LRRC3	44701376	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.761000	0.26489	2.397000	0.81536	0.561000	0.74099	CGC		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			9	76	0	0	0	1	0	9	76					T	45876948	C	T	45876948	3	4	219	1	0	0	0	0	1	0	0	0	8984	536	19	1	423	1	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		45876948	2252947	84	27406											
COL18A1	80781	broad.mit.edu	37	chr21	46925298	46925306	+	In_Frame_Del	DEL	CCCCCTGGG	CCCCCTGGG	-													gcgttcccggccctccgggcCcccctgggccccctgggccc					rs571597296|rs552556415	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:46925298_46925306delCCCCCTGGG	ENST00000359759.4	+	35	4306_4314	c.4285_4293delCCCCCTGGG	c.(4285-4293)ccccctgggdel	p.PPG1435del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1435	Triple-helical region 10 (COL10).				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)		CCCTCCGGGCccccctgggccccctgggc	0.713														5	0.000998403	0.0	0.0	5008	,	,		11794	0.002		0.003	False		,,,				2504	0.0					ENST00000359759.4																			0				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						c.(4285-4293)del		collagen, type XVIII, alpha 1			,	4,1,3355		0,0,4,0,1,1675					,	0.6	0.5			19	12,10,7576		0,0,12,1,8,3778	no	codingComplex,codingComplex	COL18A1	NM_130445.2,NM_030582.3	,	0,0,16,1,9,5453	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2895,0.1488,0.2464	,	,		16,11,10931				SO:0001651	inframe_deletion	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925298_46925306delCCCCCTGGG		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.4285_4293delCCCCCTGGG	21.37:g.46925307_46925315delCCCCCTGGG	ENSP00000352798:p.Pro1435_Gly1437del					COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del	p.PPG1435del			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	35	4306_4314	+			1435			Triple-helical region 10 (COL10).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	ENST00000359759.4	37	c.4285_4293delCCCCCTGGG																																																																																					0.713	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			12	45						12	45	---	---	---	---	-	46925306	CCCCCTGGG	-	46925298	7	5	219	1	0	1	0	1	0	0	0	0	3675	623	22	0	4532	0	COL18A1	21	46925298	In_Frame_Del	DEL	CCCCCTGGG	TCGA-FG-A6IZ-01A-11D-A31L-08	1048350	46925298	1204597	85	27407											
PLCXD1	55344	broad.mit.edu	37	chrX	205505	205505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttgccctgcatcacgcGccctgtcgtgctgaaatggt	12	14	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:205505G>A	ENST00000381657.2	+	3	747	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H|PLCXD1_ENST00000484611.2_3'UTR	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	78	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	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)				TGCATCACGCGCCCTGTCGTG	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17972	0.0		0.0	False		,,,				2504	0.0					ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(232-234)cGc>cAc		phosphatidylinositol-specific phospholipase C, X domain containing 1							276	212	233					X																	205505		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:205505G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.233G>A	X.37:g.205505G>A	ENSP00000371073:p.Arg78His					PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H	p.R78H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			3	747	+		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)	78			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.233G>A	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	9.687	1.150826	0.21371	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000445062;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	1.79	-0.937	0.10415	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.330602	0.30285	N	0.009974	T	0.19127	0.0459	.	.	.	0.09310	N	1	P	0.44429	0.835	B	0.36885	0.235	T	0.20107	-1.0285	9	0.48119	T	0.1	-16.2155	2.7547	0.05289	0.1939:0.0:0.543:0.2631	.	78	Q9NUJ7	PLCX1_HUMAN	H	78	ENSP00000381976:R78H;ENSP00000394848:R78H;ENSP00000371073:R78H;ENSP00000371079:R78H;ENSP00000399510:R78H;ENSP00000405307:R78H	ENSP00000371073:R78H	R	+	2	0	PLCXD1	145505	0.073000	0.21202	0.001000	0.08648	0.008000	0.06430	0.407000	0.21049	-1.209000	0.02631	-0.969000	0.02612	CGC		0.637	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		5	97	0	0	0	1	0	5	97					A	205505	G	A	205505	3	1	219	1	0	0	0	0	1	0	0	0	12041	1087	38	1	239	1	PLCXD1	23	205505	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		205505	155065055	86	27408											
CCDC22	28952	broad.mit.edu	37	chrX	49093692	49093692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcttgccatgtctgccCggttccgcctggccatgagc	11	16	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:49093692C>T	ENST00000376227.3	+	2	360	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	64										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATGTCTGCCCGGTTCCGCCT	0.592																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(190-192)Cgg>Tgg		coiled-coil domain containing 22							76	55	62					X																	49093692		2203	4300	6503	SO:0001583	missense	28952							g.chrX:49093692C>T	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.190C>T	X.37:g.49093692C>T	ENSP00000365401:p.Arg64Trp					CCDC22_ENST00000496651.1_3'UTR	p.R64W	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			2	360	+			64					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.190C>T	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482347	0.84747	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	M	0.81802	2.56	0.45427	D	0.998403	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.81879	-0.0730	9	0.87932	D	0	-7.6559	13.6852	0.62511	0.1554:0.8446:0.0:0.0	.	64;64	B4DLA4;O60826	.;CCD22_HUMAN	W	64	.	ENSP00000365401:R64W	R	+	1	2	CCDC22	48980636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.118000	0.57884	1.058000	0.40530	0.425000	0.28330	CGG		0.592	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		24	33	0	0	0	1	0	24	33					T	49093692	C	T	49093692	3	4	219	1	0	0	0	0	1	0	0	0	2797	643	23	1	196	1	CCDC22	23	49093692	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	48888187	49093692	106176868	87	27409											
PHF8	23133	broad.mit.edu	37	chrX	53966856	53966856	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtgggggctggtactgtcaGactgagattggagtcttgag	17	5	2	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:53966856G>C	ENST00000357988.5	-	21	3209	c.2851C>G	c.(2851-2853)Ctg>Gtg	p.L951V	PHF8_ENST00000338946.6_Missense_Mutation_p.L814V|PHF8_ENST00000338154.6_Missense_Mutation_p.L915V	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	951					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						GGTACTGTCAGACTGAGATTG	0.532																																						ENST00000338154.6																			0				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						c.(2743-2745)Ctg>Gtg		PHD finger protein 8							121	92	102					X																	53966856		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53966856G>C	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.2851C>G	X.37:g.53966856G>C	ENSP00000350676:p.Leu951Val					PHF8_ENST00000338946.6_Missense_Mutation_p.L814V|PHF8_ENST00000357988.5_Missense_Mutation_p.L951V	p.L915V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			21	3247	-			951					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.2743C>G	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.277783	0.00254	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277	T;T;T	0.16743	2.59;2.33;2.32	5.28	-2.44	0.06502	.	1.082810	0.07026	N	0.827652	T	0.07143	0.0181	N	0.08118	0	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	0.42015	-0.9476	10	0.12766	T	0.61	0.7561	6.545	0.22400	0.0:0.3323:0.3156:0.3521	.	814;850;951	B7Z911;Q9UPP1-3;Q9UPP1	.;.;PHF8_HUMAN	V	951;915;814;844	ENSP00000350676:L951V;ENSP00000338868:L915V;ENSP00000340051:L814V	ENSP00000338868:L915V	L	-	1	2	PHF8	53983581	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	-0.581000	0.05820	-0.797000	0.04450	-0.557000	0.04193	CTG		0.532	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		3	21	0	0	0	1	0	3	21					C	53966856	G	C	53966856	3	2	219	1	0	0	0	0	1	0	0	0	11840	933	33	4	422	4	PHF8	23	53966856	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	4873164	53966856	101303704	88	27410											
LHFPL1	340596	broad.mit.edu	37	chrX	111914413	111914413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcattgaagctggcatagCgcccacattcttccaccatg	9	13	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:111914413C>T	ENST00000371968.3	-	2	445	c.206G>A	c.(205-207)cGc>cAc	p.R69H	LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)		p.R69H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCTGGCATAGCGCCCACATTC	0.592																																						ENST00000371968.3																			1	Substitution - Missense(1)	p.R69H(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(205-207)cGc>cAc		lipoma HMGIC fusion partner-like 1							138	122	128					X																	111914413		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914413C>T	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.206G>A	X.37:g.111914413C>T	ENSP00000361036:p.Arg69His					LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H	p.R69H	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	445	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.206G>A	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398882	0.83120	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73258	-0.73;-0.73	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.83603	2.65	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.81914	0.991;0.995	T	0.83180	-0.0089	10	0.31617	T	0.26	-29.645	15.1346	0.72552	0.0:1.0:0.0:0.0	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	H	69	ENSP00000361036:R69H;ENSP00000444573:R69H	ENSP00000361036:R69H	R	-	2	0	LHFPL1	111801069	1.000000	0.71417	0.996000	0.52242	0.928000	0.56348	5.619000	0.67729	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		5	93	0	0	0	1	0	5	93					T	111914413	C	T	111914413	3	4	219	1	0	0	0	0	1	0	0	0	8764	768	27	1	468	1	LHFPL1	23	111914413	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	57947557	111914413	43356147	89	27411											
F9	2158	broad.mit.edu	37	chrX	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaccgagccacatgtcttCgatctacaaagttcaccatc	6	13	3	1	rs137852261		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> L (in THPH8; factor IX Padua; higher specific activity than wild-type). {ECO:0000269|PubMed:19846852}.		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)	p.R384*(3)		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)	CACATGTCTTCGATCTACAAA	0.463																																						ENST00000218099.2																			3	Substitution - Nonsense(3)	p.R384*(3)	large_intestine(2)|endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940671	F9	M	rs137852261	c.(1150-1152)Cga>Tga		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						113	101	105					X																	138643994		2203	4300	6503	SO:0001587	stop_gained	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643994C>T	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.1150C>T	X.37:g.138643994C>T	ENSP00000218099:p.Arg384*					F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	p.R384*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	1157	+	Acute lymphoblastic leukemia(192;0.000127)		384		R -> L (in THR-FIX; factor IX Padua; higher specific activity than wild-type).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	c.1150C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018508	0.75275	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.66	3.83	0.44106	.	0.451696	0.25654	N	0.029189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5754	0.56362	0.5922:0.4078:0.0:0.0	.	.	.	.	X	384;346	.	ENSP00000218099:R384X	R	+	1	2	F9	138471660	0.003000	0.15002	0.992000	0.48379	0.799000	0.45148	0.769000	0.26604	0.492000	0.27815	0.600000	0.82982	CGA		0.463	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			5	75	0	0	0	1	0	5	75					T	138643994	C	T	138643994	4	4	219	1	0	0	0	0	0	1	0	0	5351	876	31	1	1180	1	F9	23	138643994	Nonsense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	26729581	138643994	16626566	90	27412											
KIF1B	23095	broad.mit.edu	37	chr1	10386358	10386358	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acggaggagggatcagatctCttcagtgacgggcatgaccc	14	10	3	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:10386358C>G	ENST00000377086.1	+	27	3067	c.2865C>G	c.(2863-2865)ctC>ctG	p.L955L	KIF1B_ENST00000377081.1_Silent_p.L955L|KIF1B_ENST00000263934.6_Silent_p.L909L			O60333	KIF1B_HUMAN	kinesin family member 1B	955					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)		GATCAGATCTCTTCAGTGACG	0.532																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2863-2865)ctC>ctG		kinesin family member 1B							135	115	122					1																	10386358		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386358C>G	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.2865C>G	1.37:g.10386358C>G						KIF1B_ENST00000377081.1_Silent_p.L955L|KIF1B_ENST00000263934.6_Silent_p.L909L	p.L955L			O60333	KIF1B_HUMAN		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)	27	3067	+	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)	955					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2865C>G																																																																																					0.532	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			56	16	0	0	0	1	0	56	16					G	10386358	C	G	10386358	2	3	220	1	0	0	0	0	0	0	0	1	8284	900	32	4		4	KIF1B	1	10386358	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		10386358	238864263	1	27413											
DCST1	149095	broad.mit.edu	37	chr1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcgttggtttgaccGcaagcatgaacagtgcatga	12	10	0	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						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)			TGGTTTGACCGCAAGCATGAA	0.537																																						ENST00000295542.1																			0				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						c.(793-795)cGc>cAc		DC-STAMP domain containing 1							175	132	147					1																	155014235		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014235G>A	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.794G>A	1.37:g.155014235G>A	ENSP00000295542:p.Arg265His					DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H	p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	890	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		265					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.794G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935876	0.34189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-6.0	0.02206	.	2.011450	0.02298	N	0.070951	T	0.11024	0.0269	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13872	-1.0493	10	0.41790	T	0.15	0.7543	13.3586	0.60642	0.386:0.0:0.614:0.0	.	240;290;265	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	H	265;265;240;265	ENSP00000295542:R265H;ENSP00000376271:R265H;ENSP00000387369:R240H;ENSP00000357404:R265H	ENSP00000295542:R265H	R	+	2	0	DCST1	153280859	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	-1.570000	0.02140	-1.129000	0.02918	-1.332000	0.01269	CGC		0.537	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		4	147	0	0	0	1	0	4	147					A	155014235	G	A	155014235	3	1	220	1	0	0	0	0	1	0	0	0	4302	1087	38	1	820	1	DCST1	1	155014235	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	144627877	155014235	94236386	2	27414											
MYOC	4653	broad.mit.edu	37	chr1	171605167	171605167	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcatgctgctgtacttAtagcggttcttgaatgggat	10	7	3	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:171605167A>T	ENST00000037502.6	-	3	1484	c.1413T>A	c.(1411-1413)taT>taA	p.Y471*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	471	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		Y -> C (in GLC1A; unknown pathological significance). {ECO:0000269|PubMed:12356829}.		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)					TGCTGTACTTATAGCGGTTCT	0.488																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(1411-1413)taT>taA		myocilin, trabecular meshwork inducible glucocorticoid response							196	173	181					1																	171605167		2203	4300	6503	SO:0001587	stop_gained	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605167A>T	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.1413T>A	1.37:g.171605167A>T	ENSP00000037502:p.Tyr471*						p.Y471*	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1472	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		471		Y -> C (in GLC1A; uncertain pathogenicity).	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	ENST00000037502.6	37	c.1413T>A	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994445	0.93167	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	.	.	.	5.08	3.16	0.36331	.	0.109676	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8164	0.34998	0.2503:0.0:0.7497:0.0	.	.	.	.	X	471;424;404	.	ENSP00000037502:Y471X	Y	-	3	2	MYOC	169871790	0.984000	0.35163	0.732000	0.30844	0.984000	0.73092	1.853000	0.39358	1.268000	0.44264	-0.354000	0.07668	TAT		0.488	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		25	110	0	0	0	1	0	25	110					T	171605167	A	T	171605167	4	4	220	1	0	0	0	0	0	1	0	0	10086	456	16	5	105	5	MYOC	1	171605167	Nonsense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	16590932	171605167	77645454	3	27415											
OBSCN	84033	broad.mit.edu	37	chr1	228557667	228557667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctcatccccatttgcCggcgagagtgaccgtgccac	10	16	1	2	rs373513763		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:228557667C>T	ENST00000422127.1	+	91	20036	c.19992C>T	c.(19990-19992)gcC>gcT	p.A6664A	OBSCN_ENST00000366707.4_Silent_p.A4298A|OBSCN_ENST00000570156.2_Silent_p.A7621A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CCCCATTTGCCGGCGAGAGTG	0.627																																						ENST00000570156.2																			0				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						c.(22861-22863)gcC>gcT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C		1,4073		0,1,2036	70	72	71		19992	-9.6	0	1		71	0,8370		0,0,4185	no	coding-synonymous	OBSCN	NM_001098623.1		0,1,6221	TT,TC,CC		0.0,0.0245,0.0080		6664/7969	228557667	1,12443	2037	4185	6222	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557667C>T	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.19992C>T	1.37:g.228557667C>T						OBSCN_ENST00000422127.1_Silent_p.A6664A|OBSCN_ENST00000366707.4_Silent_p.A4298A	p.A7621A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			102	22937	+		Prostate(94;0.0405)	6664			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.22863C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698889	0.15106	2.45E-4	0.0	ENSG00000154358	ENST00000441106	.	.	.	4.78	-9.57	0.00562	.	.	.	.	.	T	0.59459	0.2195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77983	-0.2382	4	.	.	.	.	13.8779	0.63665	0.0:0.2492:0.6114:0.1394	.	.	.	.	W	1281	.	.	R	+	1	2	OBSCN	226624290	0.000000	0.05858	0.003000	0.11579	0.139000	0.21198	-3.517000	0.00444	-5.293000	0.00017	-2.766000	0.00121	CGG		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	103	0	0	0	1	0	4	103					T	228557667	C	T	228557667	2	4	220	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228557667	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	56952500	228557667	20692954	4	27416											
RYR2	6262	broad.mit.edu	37	chr1	237863644	237863644	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaagcagggccagttcactCacacccgaaaccagcccaaa	7	16	3	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:237863644C>T	ENST00000366574.2	+	65	9561	c.9244C>T	c.(9244-9246)Cac>Tac	p.H3082Y	RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3082					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)	p.H3080N(1)		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)			CCAGTTCACTCACACCCGAAA	0.493																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.H3080N(1)	ovary(1)	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						c.(9244-9246)Cac>Tac		ryanodine receptor 2 (cardiac)							46	46	46					1																	237863644		1926	4134	6060	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237863644C>T	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.9244C>T	1.37:g.237863644C>T	ENSP00000355533:p.His3082Tyr					RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y|RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y	p.H3082Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		65	9561	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3082					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9244C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994899	0.93167	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.96830	-4.14;-4.11;-4.13	4.97	4.97	0.65823	.	0.000000	0.64402	U	0.000007	D	0.95924	0.8673	M	0.64404	1.975	0.80722	D	1	D	0.57571	0.98	P	0.46275	0.51	D	0.96244	0.9178	10	0.59425	D	0.04	.	18.6031	0.91256	0.0:1.0:0.0:0.0	.	3082	Q92736	RYR2_HUMAN	Y	3082;3080;3066;37;77	ENSP00000355533:H3082Y;ENSP00000353174:H3080Y;ENSP00000443798:H3066Y	ENSP00000353174:H3080Y	H	+	1	0	RYR2	235930267	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.449000	0.82847	0.557000	0.71058	CAC		0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	3	0	0	0	1	0	6	3					T	237863644	C	T	237863644	3	4	220	1	0	0	0	0	1	0	0	0	13769	826	29	2	9502	2	RYR2	1	237863644	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	9305977	237863644	11386977	5	27417											
NBEAL1	65065	broad.mit.edu	37	chr2	204001498	204001498	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgaaataaaactaacGtaagcatttagttagtgatt	7	4	1	3	rs531751889	byFrequency	TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr2:204001498G>A	ENST00000449802.1	+	28	4811		c.e28+1			NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1											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						TAAAACTAACGTAAGCATTTA	0.348													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20267	0.0		0.0	False		,,,				2504	0.0					ENST00000449802.1																			0				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						c.e28+1		neurobeachin-like 1							110	105	106					2																	204001498		1867	4096	5963	SO:0001630	splice_region_variant	65065						binding	g.chr2:204001498G>A	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.4478+1G>A	2.37:g.204001498G>A								NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			28	4811	+								A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Splice_Site	SNP	ENST00000449802.1	37		CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923294	0.52653	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9763	0.97309	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEAL1	203709743	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	9.229000	0.95273	2.821000	0.97095	0.650000	0.86243	.		0.348	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		Intron	5	95	0	0	0	1	0	5	95					A	204001498	G	A	204001498	5	1	220	1	0	0	0	0	0	0	1	0	10188	1159	40	1	4585	1	NBEAL1	2	204001498	Splice_Site	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		204001498	39197875	6	27418											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	41	0	0	0	1	0	34	41					T	209113112	C	T	209113112	3	4	220	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	5111614	209113112	34086261	7	27419											
ZNF662	389114	broad.mit.edu	37	chr3	42956752	42956752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtaatgactgtgggaaggCcttcagtcagaattctgtct	11	7	4	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:42956752C>T	ENST00000541208.1	+	5	1556	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	396					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(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGTGGGAAGGCCTTCAGTCAG	0.428																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1186-1188)gCc>gTc		zinc finger protein 662							60	60	60					3																	42956752		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956752C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1187C>T	3.37:g.42956752C>T	ENSP00000446208:p.Ala396Val					ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V|KRBOX1_ENST00000426937.1_Intron	p.A396V			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1556	+			396					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1187C>T	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657972	0.47467	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.36340	1.26;1.26;1.26	3.83	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37100	0.0991	L	0.31120	0.905	0.22803	N	0.998719	P;P	0.51791	0.936;0.948	P;P	0.54965	0.577;0.765	T	0.11690	-1.0577	9	0.87932	D	0	.	6.492	0.22121	0.2091:0.5876:0.2033:0.0	.	422;396	F8W7S8;Q6ZS27	.;ZN662_HUMAN	V	396;422;396	ENSP00000405047:A396V;ENSP00000329264:A422V;ENSP00000446208:A396V	ENSP00000329264:A422V	A	+	2	0	ZNF662	42931756	0.016000	0.18221	1.000000	0.80357	0.998000	0.95712	0.899000	0.28417	0.890000	0.36211	0.650000	0.86243	GCC		0.428	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		6	66	0	0	0	1	0	6	66					T	42956752	C	T	42956752	3	4	220	1	0	0	0	0	1	0	0	0	18068	739	26	2	1388	2	ZNF662	3	42956752	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		42956752	155065678	8	27420											
CBLB	868	broad.mit.edu	37	chr3	105452941	105452941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcacaaatcttacagAgctgaaaagtggagcccatt	8	10	2	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:105452941A>G	ENST00000264122.4	-	9	1436	c.1115T>C	c.(1114-1116)cTc>cCc	p.L372P	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P|CBLB_ENST00000394027.3_Missense_Mutation_p.L394P|CBLB_ENST00000405772.1_Missense_Mutation_p.L372P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	372	Linker.				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						AATCTTACAGAGCTGAAAAGT	0.398			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				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						c.(1114-1116)cTc>cCc		Cbl proto-oncogene B, E3 ubiquitin protein ligase							95	91	92					3																	105452941		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105452941A>G	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.1115T>C	3.37:g.105452941A>G	ENSP00000264122:p.Leu372Pro					CBLB_ENST00000394027.3_Missense_Mutation_p.L394P|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.L372P|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P	p.L372P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			9	1436	-			372			Linker.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1115T>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333192	0.81801	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.56	5.56	0.83823	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.53671	1.685	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.978;0.94;0.991	D	0.98214	1.0474	10	0.87932	D	0	-10.3998	15.71	0.77620	1.0:0.0:0.0:0.0	.	394;372;372	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	P	372;394;372;372	ENSP00000264122:L372P;ENSP00000377595:L394P;ENSP00000384816:L372P;ENSP00000384938:L372P	ENSP00000264122:L372P	L	-	2	0	CBLB	106935631	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.909000	0.92647	2.118000	0.64928	0.477000	0.44152	CTC		0.398	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		20	52	0	0	0	1	0	20	52					G	105452941	A	G	105452941	3	3	220	1	0	0	0	0	1	0	0	0	2701	304	11	3	1877	3	CBLB	3	105452941	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	62496189	105452941	92569489	9	27421											
ZBTB20	26137	broad.mit.edu	37	chr3	114069124	114069124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggtgacactcacctgTgtgtacgaacatgtgcttga	14	8	1	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:114069124T>C	ENST00000474710.1	-	4	1979	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	ZBTB20_ENST00000462705.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	601						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CACTCACCTGTGTGTACGAAC	0.547																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1582-1584)Aca>Gca		zinc finger and BTB domain containing 20							145	144	144					3																	114069124		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069124T>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1801A>G	3.37:g.114069124T>C	ENSP00000419153:p.Thr601Ala					ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T601A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A	p.T528A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2403	-			601					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1582A>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017331	0.75161	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	6.03	6.03	0.97812	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.61387	1.9	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.49523	-0.8931	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	601	Q9HC78	ZBT20_HUMAN	A	528;528;528;528;601;528;528	ENSP00000420324:T528A;ENSP00000377375:T528A;ENSP00000418092:T528A;ENSP00000419902:T528A;ENSP00000419153:T601A;ENSP00000349803:T528A;ENSP00000417307:T528A	ENSP00000349803:T528A	T	-	1	0	ZBTB20	115551814	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.693000	0.84214	2.313000	0.78055	0.455000	0.32223	ACA		0.547	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		18	165	0	0	0	1	0	18	165					C	114069124	T	C	114069124	3	2	220	1	0	0	0	0	1	0	0	0	17526	1696	59	3	432	3	ZBTB20	3	114069124	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	8616183	114069124	83953306	10	27422											
SR140	23350	broad.mit.edu	37	chr3	142720480	142720480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagctcaagatggcggacAaaacgccaggcggatctcag	12	11	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:142720480A>G	ENST00000473835.2	+	1	100	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	U2SURP_ENST00000493598.2_Missense_Mutation_p.K4E|RP11-372E1.6_ENST00000595774.1_RNA|RP11-91G21.1_ENST00000597953.1_lincRNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	4					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GATGGCGGACAAAACGCCAGG	0.587																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(10-12)Aaa>Gaa		U2 snRNP-associated SURP domain containing							45	48	47					3																	142720480		1963	4134	6097	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142720480A>G	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.10A>G	3.37:g.142720480A>G	ENSP00000418563:p.Lys4Glu					U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.K4E	p.K4E	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			1	100	+			4					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.10A>G	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057396	0.55325	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598	T;T	0.11277	2.79;2.79	4.48	4.48	0.54585	.	0.107792	0.64402	D	0.000006	T	0.08980	0.0222	N	0.08118	0	0.80722	D	1	B;P;P	0.37398	0.0;0.593;0.458	B;P;B	0.45577	0.0;0.486;0.292	T	0.27468	-1.0073	10	0.87932	D	0	-22.3718	10.3433	0.43891	1.0:0.0:0.0:0.0	.	4;4;4	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	E	4	ENSP00000418563:K4E;ENSP00000422011:K4E	ENSP00000322376:K4E	K	+	1	0	U2SURP	144203170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.610000	0.61155	2.004000	0.58718	0.455000	0.32223	AAA		0.587	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		21	30	0	0	0	1	0	21	30					G	142720480	A	G	142720480	3	3	220	1	0	0	0	0	1	0	0	0	15130	131	5	3	12	3	SR140	3	142720480	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	28651356	142720480	55301950	11	27423											
OTOL1	131149	broad.mit.edu	37	chr3	161221128	161221128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaatggaaggcaaaagcGgccgtaatggtctgcctggg	17	7	1	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:161221128G>A	ENST00000327928.4	+	4	832	c.832G>A	c.(832-834)Ggc>Agc	p.G278S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	278	Collagen-like 3.					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						AGGCAAAAGCGGCCGTAATGG	0.542																																						ENST00000327928.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						c.(832-834)Ggc>Agc		otolin 1							14	15	14					3																	161221128		1972	4145	6117	SO:0001583	missense	131149					collagen		g.chr3:161221128G>A		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.832G>A	3.37:g.161221128G>A	ENSP00000330808:p.Gly278Ser						p.G278S	NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN			4	832	+			278			Collagen-like 3.			Missense_Mutation	SNP	ENST00000327928.4	37	c.832G>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286808	0.59867	.	.	ENSG00000182447	ENST00000327928	D	0.99329	-5.75	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.99480	0.9815	M	0.88640	2.97	0.42093	D	0.991302	D	0.89917	1.0	D	0.97110	1.0	D	0.98563	1.0642	10	0.87932	D	0	.	16.9549	0.86256	0.0:0.0:1.0:0.0	.	278	A6NHN0	OTOL1_HUMAN	S	278	ENSP00000330808:G278S	ENSP00000330808:G278S	G	+	1	0	OTOL1	162703822	1.000000	0.71417	0.090000	0.20809	0.002000	0.02628	5.736000	0.68597	2.320000	0.78422	0.557000	0.71058	GGC		0.542	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		4	20	0	0	0	1	0	4	20					A	161221128	G	A	161221128	3	1	220	1	0	0	0	0	1	0	0	0	11304	1116	39	1	846	1	OTOL1	3	161221128	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	18500648	161221128	36801302	12	27424											
PDGFRA	5156	broad.mit.edu	37	chr4	55141093	55141093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtggacccgatgcagcTgccttatgactcaagatggg	12	9	1	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr4:55141093T>C	ENST00000257290.5	+	12	2070	c.1739T>C	c.(1738-1740)cTg>cCg	p.L580P	FIP1L1_ENST00000507166.1_Splice_Site_p.L340P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	580					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CCGATGCAGCTGCCTTATGAC	0.458			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1738-1740)cTg>cCg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						95	94	95					4																	55141093		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55141093T>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1739T>C	4.37:g.55141093T>C	ENSP00000257290:p.Leu580Pro	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Splice_Site_p.L340_splice	p.L580P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	2070	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		580					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1739T>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455150	0.63401	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;D	0.97553	0.86;-4.43	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.000000	0.26231	U	0.025563	D	0.98770	0.9586	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.983	D	0.99755	1.1019	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	580;580	P16234-3;P16234	.;PGFRA_HUMAN	P	340;580	ENSP00000423325:L340P;ENSP00000257290:L580P	ENSP00000423325:L340P	L	+	2	0	FIP1L1;PDGFRA	54835850	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	7.967000	0.87967	2.308000	0.77769	0.533000	0.62120	CTG		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		5	72	0	0	0	1	0	5	72					C	55141093	T	C	55141093	3	2	220	1	0	0	0	0	1	0	0	0	11661	1580	55	3	1781	3	PDGFRA	4	55141093	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		55141093	136013183	13	27425											
LOC153328	153328	broad.mit.edu	37	chr5	135188391	135188391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaggccagtcctccccGcacgctgtcagacctgctcc	10	19	1	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr5:135188391G>A	ENST00000420621.1	+	4	474	c.302G>A	c.(301-303)cGc>cAc	p.R101H	SLC25A48_ENST00000274513.5_Missense_Mutation_p.R101H|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101H|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47H			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	101					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGTCCTCCCCGCACGCTGTCA	0.647																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(301-303)cGc>cAc		solute carrier family 25, member 48							58	64	62					5																	135188391		1969	4135	6104	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188391G>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"Solute carriers"	30451	protein-coding gene	gene with protein product	"HCC-down-regulated mitochondrial carrier protein"					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.302G>A	5.37:g.135188391G>A	ENSP00000407973:p.Arg101His					SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47H|SLC25A48_ENST00000420621.1_Missense_Mutation_p.R101H|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101H	p.R101H			Q6ZT89	S2548_HUMAN			4	474	+			101					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032735	0.07543	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.08	1.3	0.21679	.	0.230538	0.45361	N	0.000379	T	0.54919	0.1888	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.09377	0.002;0.004	T	0.34254	-0.9836	10	0.24483	T	0.36	-24.2126	6.0216	0.19632	0.3233:0.2207:0.456:0.0	.	101;101	Q6ZT89-3;Q6ZT89-2	.;.	H	101;101;47;101	ENSP00000274513:R101H;ENSP00000407973:R101H;ENSP00000399834:R47H;ENSP00000413049:R101H	ENSP00000274513:R101H	R	+	2	0	SLC25A48	135216290	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.214000	0.09292	-0.049000	0.13379	0.462000	0.41574	CGC		0.647	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		4	184	0	0	0	1	0	4	184					A	135188391	G	A	135188391	3	1	220	1	0	0	0	0	1	0	0	0	8871	1087	38	1	316	1	LOC153328	5	135188391	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		135188391	45726869	14	27426											
DFNA5	1687	broad.mit.edu	37	chr7	24747789	24747789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcatcaaataggaccGcctggaagatgtcactcaaa	8	10	5	1	rs369233573		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:24747789G>A	ENST00000342947.3	-	7	1372	c.947C>T	c.(946-948)gCg>gTg	p.A316V	DFNA5_ENST00000545231.1_Missense_Mutation_p.A152V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V|DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V|DFNA5_ENST00000559637.1_5'Flank|DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	316					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAATAGGACCGCCTGGAAGAT	0.512																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(454-456)gCg>gTg		deafness, autosomal dominant 5		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	98	78	85		947,455,947	-2.4	0	7		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DFNA5	NM_001127453.1,NM_001127454.1,NM_004403.2	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	316/497,152/333,316/497	24747789	1,13005	2203	4300	6503	SO:0001583	missense	1687				sensory perception of sound			g.chr7:24747789G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.947C>T	7.37:g.24747789G>A	ENSP00000339587:p.Ala316Val					DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V|DFNA5_ENST00000342947.3_Missense_Mutation_p.A316V|DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V	p.A152V			O60443	DFNA5_HUMAN			9	1605	-			316					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.455C>T	CCDS5389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.769885|1.769885	0.31320|0.31320	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105928|ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775|ENST00000415480;ENST00000446822	T;T;T;T;T|.	0.25414|.	1.8;1.8;1.8;1.8;1.8|.	5.93|5.93	-2.39|-2.39	0.06602|0.06602	.|.	1.112030|.	0.06588|.	N|.	0.751495|.	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.08055|.	0.003|.	T|T	0.25882|0.25882	-1.0119|-1.0119	10|5	0.33141|.	T|.	0.24|.	-0.1371|-0.1371	1.4133|1.4133	0.02296|0.02296	0.1954:0.1172:0.208:0.4795|0.1954:0.1172:0.208:0.4795	.|.	316|.	O60443|.	DFNA5_HUMAN|.	V|W	316;152;152;152;316|105;141	ENSP00000339587:A316V;ENSP00000401332:A152V;ENSP00000442661:A152V;ENSP00000387119:A152V;ENSP00000386670:A316V|.	ENSP00000339587:A316V|.	A|R	-|-	2|1	0|2	DFNA5|DFNA5	24714314|24714314	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.035000|0.035000	0.12851|0.12851	-0.528000|-0.528000	0.06193|0.06193	-0.236000|-0.236000	0.09753|0.09753	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG		0.512	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		3	39	0	0	0	1	0	3	39					A	24747789	G	A	24747789	3	1	220	1	0	0	0	0	1	0	0	0	4454	1087	38	1	559	1	DFNA5	7	24747789	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		24747789	134390874	15	27427											
PURB	5814	broad.mit.edu	37	chr7	44924342	44924342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgccgcctcccgggccGcctgccagctcgtcgtcctc	12	22	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:44924342G>A	ENST00000395699.2	-	1	618	c.606C>T	c.(604-606)ggC>ggT	p.G202G	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	202	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.G202G(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						ctcccgggccgccTGCCAGCT	0.701																																						ENST00000395699.2																			1	Substitution - coding silent(1)	p.G202G(1)	large_intestine(1)	large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(604-606)ggC>ggT		purine-rich element binding protein B							14	19	17					7																	44924342		2194	4289	6483	SO:0001819	synonymous_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924342G>A		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.606C>T	7.37:g.44924342G>A							p.G202G	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	618	-			202			Gly-rich.		A4D2L7	Silent	SNP	ENST00000395699.2	37	c.606C>T	CCDS5499.1																																																																																				0.701	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		11	54	0	0	0	1	0	11	54					A	44924342	G	A	44924342	2	1	220	1	0	0	0	0	0	0	0	1	12828	1074	38	1		1	PURB	7	44924342	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	20176553	44924342	114214321	16	27428											
UPK3B	80761	broad.mit.edu	37	chr7	76141108	76141108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaccccatggcgggcagcGgaggcgcccccgtgctgcgg	18	16	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:76141108G>A	ENST00000257632.5	+	2	663	c.535G>A	c.(535-537)Gga>Aga	p.G179R	UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000419923.2_Missense_Mutation_p.G179R			Q9BT76	UPK3B_HUMAN	uroplakin 3B	179					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)				GGCGGGCAGCGGAGGCGCCCC	0.706																																						ENST00000419923.2																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8						c.(535-537)Gga>Aga		uroplakin 3B							8	8	8					7																	76141108		2189	4269	6458	SO:0001583	missense	80761				negative regulation of gene expression	integral to membrane|plasma membrane		g.chr7:76141108G>A	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.535G>A	7.37:g.76141108G>A	ENSP00000257632:p.Gly179Arg					UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R|UPK3B_ENST00000257632.5_Missense_Mutation_p.G179R	p.G179R			Q9BT76	UPK3B_HUMAN			2	760	+		Myeloproliferative disorder(862;0.204)	179					A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	c.535G>A	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	12.96	2.093559	0.36952	.	.	ENSG00000243566	ENST00000334348;ENST00000419923;ENST00000448265;ENST00000443097;ENST00000257632;ENST00000394849	T;T;T;T;T;T	0.55234	0.53;1.48;1.48;0.53;1.48;1.48	5.09	-1.04	0.10068	.	0.952565	0.08572	N	0.925973	T	0.43478	0.1249	N	0.14661	0.345	0.09310	N	1	D;D;P	0.69078	0.997;0.99;0.94	P;P;B	0.56865	0.808;0.692;0.288	T	0.29852	-0.9998	10	0.38643	T	0.18	-11.1786	4.4017	0.11390	0.3255:0.3037:0.3708:0.0	.	124;179;124	Q9BT76-2;Q9BT76;A6NHH5	.;UPK3B_HUMAN;.	R	124;179;179;124;179;124	ENSP00000334938:G124R;ENSP00000441602:G179R;ENSP00000441284:G179R;ENSP00000444585:G124R;ENSP00000257632:G179R;ENSP00000378319:G124R	ENSP00000257632:G179R	G	+	1	0	UPK3B	75979044	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.722000	0.04958	-0.613000	0.05694	0.467000	0.42956	GGA		0.706	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570		5	8	0	0	0	1	0	5	8					A	76141108	G	A	76141108	3	1	220	1	0	0	0	0	1	0	0	0	17008	1117	39	1	541	1	UPK3B	7	76141108	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	31216766	76141108	82997555	17	27429											
TRRAP	8295	broad.mit.edu	37	chr7	98547852	98547852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgctttgtagacttcaaCgaccccaacttcggagatga	8	11	1	3	rs113411331		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:98547852C>T	ENST00000359863.4	+	37	5489	c.5280C>T	c.(5278-5280)aaC>aaT	p.N1760N	TRRAP_ENST00000446306.3_Silent_p.N1741N|TRRAP_ENST00000355540.3_Silent_p.N1742N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1760					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)			TAGACTTCAACGACCCCAACT	0.428																																						ENST00000359863.4																			0				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						c.(5278-5280)aaC>aaT		transformation/transcription domain-associated protein							90	86	87					7																	98547852		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98547852C>T	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.5280C>T	7.37:g.98547852C>T						TRRAP_ENST00000355540.3_Silent_p.N1742N|TRRAP_ENST00000446306.3_Silent_p.N1741N	p.N1760N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		37	5489	+	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)		1760					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.5280C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	6.983	0.551419	0.13374	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.6	-5.53	0.02552	.	.	.	.	.	T	0.62295	0.2416	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64058	-0.6496	4	.	.	.	.	14.2414	0.65959	0.0:0.5278:0.0:0.4722	.	.	.	.	M	1482	.	.	T	+	2	0	TRRAP	98385788	0.005000	0.15991	0.251000	0.24312	0.956000	0.61745	-0.041000	0.12084	-0.916000	0.03818	-0.648000	0.03929	ACG		0.428	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		42	58	0	0	0	1	0	42	58					T	98547852	C	T	98547852	2	4	220	1	0	0	0	0	0	0	0	1	16598	535	19	1		1	TRRAP	7	98547852	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	22406744	98547852	60590811	18	27430											
NUP205	23165	broad.mit.edu	37	chr7	135272653	135272653	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctggagcttgctctagaAtattggtgtcccacagagcc	10	11	2	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:135272653A>G	ENST00000285968.6	+	10	1412	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	462					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						TTGCTCTAGAATATTGGTGTC	0.468																																						ENST00000285968.6																			0				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						c.(1384-1386)gaA>gaG		nucleoporin 205kDa							83	84	84					7																	135272653		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135272653A>G	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.1386A>G	7.37:g.135272653A>G						NUP205_ENST00000440390.2_Intron	p.E462E	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			10	1412	+			462					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.1386A>G	CCDS34759.1																																																																																				0.468	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	74	0	0	0	1	0	4	74					G	135272653	A	G	135272653	2	3	220	1	0	0	0	0	0	0	0	1	10759	98	4	3		3	NUP205	7	135272653	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	36724801	135272653	23866010	19	27431											
ASH2L	9070	broad.mit.edu	37	chr8	37976813	37976813	+	Frame_Shift_Del	DEL	A	A	-													attgcagcaggaagcagcggAaaaggacgaggagccaagcg							TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr8:37976813delA	ENST00000343823.6	+	9	1188	c.879delA	c.(877-879)ggafs	p.G293fs	ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	293					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)				GAAGCAGCGGAAAAGGACGAG	0.567																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(877-879)ggfs		ash2 (absent, small, or homeotic)-like (Drosophila)							55	48	50					8																	37976813		2126	4130	6256	SO:0001589	frameshift_variant	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37976813delA	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.879delA	8.37:g.37976813delA	ENSP00000340896:p.Gly293fs					ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs	p.G293fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			9	1188	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	293					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Frame_Shift_Del	DEL	ENST00000343823.6	37	c.879delA	CCDS6101.1																																																																																				0.567	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		2	4						2	4	---	---	---	---	-	37976813	A	-	37976813	7	5	220	1	0	1	0	1	0	0	0	0	1042	233	9	0	913	0	ASH2L	8	37976813	Frame_Shift_Del	DEL	A	TCGA-FG-A6J1-01A-11D-A31L-08		37976813	108387209	20	27432											
EBF3	253738	broad.mit.edu	37	chr10	131639180	131639180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccctagactggccatggCgccacttccatatccattca	7	16	1	1	rs138447716		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr10:131639180C>T	ENST00000355311.5	-	14	1561	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	EBF3_ENST00000368648.3_Missense_Mutation_p.A488T|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	497	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)			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)		CTGGCCATGGCGCCACTTCCA	0.547																																						ENST00000368648.3																			0				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						c.(1462-1464)Gcc>Acc		early B-cell factor 3		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	152	141	145		1462	2.9	1	10	dbSNP_134	145	0,8600		0,0,4300	no	missense	EBF3	NM_001005463.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	488/552	131639180	1,13005	2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639180C>T		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.1489G>A	10.37:g.131639180C>T	ENSP00000347463:p.Ala497Thr					EBF3_ENST00000355311.5_Missense_Mutation_p.A497T	p.A488T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1534	-		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)	497			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1462G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.64|16.64	3.179284|3.179284	0.57800|0.57800	2.27E-4|2.27E-4	0.0|0.0	ENSG00000108001|ENSG00000108001	ENST00000355311;ENST00000368648|ENST00000440978	T;T|.	0.43688|.	0.94;0.94|.	4.7|4.7	2.86|2.86	0.33363|0.33363	.|.	0.257041|.	0.44688|.	N|.	0.000424|.	T|T	0.59280|0.59280	0.2182|0.2182	L|L	0.50333|0.50333	1.59|1.59	0.37062|0.37062	D|D	0.898102|0.898102	B|.	0.25667|.	0.131|.	B|.	0.25759|.	0.063|.	T|T	0.60515|0.60515	-0.7248|-0.7248	10|5	0.30078|.	T|.	0.28|.	-5.052|-5.052	12.0648|12.0648	0.53581|0.53581	0.0:0.8919:0.0:0.1081|0.0:0.8919:0.0:0.1081	.|.	488|.	Q9H4W6-2|.	.|.	T|H	497;488|58	ENSP00000347463:A497T;ENSP00000357637:A488T|.	ENSP00000347463:A497T|.	A|R	-|-	1|2	0|0	EBF3|EBF3	131529170|131529170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	4.289000|4.289000	0.59013|0.59013	0.587000|0.587000	0.29643|0.29643	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		12	177	0	0	0	1	0	12	177					T	131639180	C	T	131639180	3	4	220	1	0	0	0	0	1	0	0	0	4882	768	27	1	205	1	EBF3	10	131639180	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		131639180	3895567	21	27433											
OR4A16	81327	broad.mit.edu	37	chr11	55111417	55111417	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatcattgtggttgccctCgtttttgttccctgtatttt	7	10	1	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr11:55111417C>T	ENST00000314721.2	+	1	791	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTTGCCCTCGTTTTTGTTC	0.398																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(739-741)ctC>ctT		olfactory receptor, family 4, subfamily A, member 16							164	153	157					11																	55111417		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111417C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.741C>T	11.37:g.55111417C>T							p.L247L	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	791	+			247					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.741C>T	CCDS31499.1																																																																																				0.398	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		30	48	0	0	0	1	0	30	48					T	55111417	C	T	55111417	2	4	220	1	0	0	0	0	0	0	0	1	11041	871	31	1		1	OR4A16	11	55111417	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		55111417	79895099	22	27434											
CLIP1	6249	broad.mit.edu	37	chr12	122845629	122845629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcactcgcctcactgcGttggccttggctttggctgg	12	14	2	0	rs111985493		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr12:122845629G>A	ENST00000540338.1	-	4	923	c.882C>T	c.(880-882)aaC>aaT	p.N294N	CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000545889.1_De_novo_Start_OutOfFrame|CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N|CLIP1_ENST00000358808.2_Silent_p.N294N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	294					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)		GCCTCACTGCGTTGGCCTTGG	0.562																																						ENST00000545889.1																			0				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								CAP-GLY domain containing linker protein 1							100	95	97					12																	122845629		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122845629G>A		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.882C>T	12.37:g.122845629G>A						CLIP1_ENST00000358808.2_Silent_p.N294N|CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000540338.1_Silent_p.N294N|CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N				P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	0	134	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A0AVD3|Q17RS4|Q29RG0	Translation_Start_Site	SNP	ENST00000540338.1	37		CCDS58285.1																																																																																				0.562	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		14	91	0	0	0	1	0	14	91					A	122845629	G	A	122845629	2	1	220	1	0	0	0	0	0	0	0	1	3532	1136	40	1		1	CLIP1	12	122845629	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		122845629	11006266	23	27435											
TBC1D4	9882	broad.mit.edu	37	chr13	75887015	75887015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtagatgaggtccTttttctcccttctccatcac	8	13	3	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr13:75887015T>C	ENST00000377636.3	-	13	2588	c.2242A>G	c.(2242-2244)Agg>Ggg	p.R748G	TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	748	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GATGAGGTCCTTTTTCTCCCT	0.502																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2242-2244)Agg>Ggg		TBC1 domain family, member 4							66	69	68					13																	75887015		2034	4193	6227	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75887015T>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2242A>G	13.37:g.75887015T>C	ENSP00000366863:p.Arg748Gly					TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G	p.R748G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	13	2588	-		Prostate(6;0.014)|Breast(118;0.0982)	748			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2242A>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090345	0.55968	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.53	1.58	0.23477	.	0.144113	0.48767	N	0.000164	T	0.57125	0.2032	L	0.52573	1.65	0.80722	D	1	P;B;P	0.48911	0.762;0.336;0.917	P;B;P	0.51742	0.503;0.333;0.678	T	0.54125	-0.8340	10	0.56958	D	0.05	-15.1196	8.0245	0.30430	0.0:0.0673:0.2433:0.6894	.	685;740;748	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	G	748;740;685;197	ENSP00000366863:R748G;ENSP00000395986:R740G;ENSP00000366852:R685G;ENSP00000396932:R197G	ENSP00000366852:R685G	R	-	1	2	TBC1D4	74785016	1.000000	0.71417	0.995000	0.50966	0.435000	0.31806	5.774000	0.68906	0.107000	0.17824	0.533000	0.62120	AGG		0.502	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		3	58	0	0	0	1	0	3	58					C	75887015	T	C	75887015	3	2	220	1	0	0	0	0	1	0	0	0	15619	1608	56	3	1690	3	TBC1D4	13	75887015	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		75887015	39282863	24	27436											
OR11H4	390442	broad.mit.edu	37	chr14	20711005	20711005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcagcaacacacatcGtgacagagtttattctcctg	8	11	2	2	rs142720326	byFrequency	TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:20711005G>A	ENST00000315409.2	+	1	108	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AACACACATCGTGACAGAGTT	0.418																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(55-57)Gtg>Atg		olfactory receptor, family 11, subfamily H, member 4		G	MET/VAL	0,4406		0,0,2203	84	74	77		55	3.6	0	14	dbSNP_134	77	23,8577	16.6+/-54.9	0,23,4277	yes	missense	OR11H4	NM_001004479.1	21	0,23,6480	AA,AG,GG		0.2674,0.0,0.1768	probably-damaging	19/325	20711005	23,12983	2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711005G>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.55G>A	14.37:g.20711005G>A	ENSP00000318997:p.Val19Met						p.V19M	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	108	+	all_cancers(95;0.000888)		19					B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.55G>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	8.728	0.916036	0.17907	0.0	0.002674	ENSG00000176198	ENST00000315409	T	0.00892	5.57	4.52	3.63	0.41609	.	0.297672	0.23824	N	0.044203	T	0.03608	0.0103	M	0.84156	2.68	0.09310	N	1	D	0.61697	0.99	P	0.56434	0.798	T	0.18429	-1.0337	10	0.59425	D	0.04	-5.3475	8.2957	0.31984	0.109:0.0:0.891:0.0	.	19	Q8NGC9	O11H4_HUMAN	M	19	ENSP00000318997:V19M	ENSP00000318997:V19M	V	+	1	0	OR11H4	19780845	.	.	0.045000	0.18777	0.004000	0.04260	.	.	1.133000	0.42147	-0.136000	0.14681	GTG		0.418	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			6	64	0	0	0	1	0	6	64					A	20711005	G	A	20711005	3	1	220	1	0	0	0	0	1	0	0	0	10928	1145	40	1	57	1	OR11H4	14	20711005	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		20711005	86638535	25	27437											
FUT8	2530	broad.mit.edu	37	chr14	66083061	66083061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actccaaagacatgcagatgAatttcttttggatttaggac	8	7	1	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:66083061A>G	ENST00000360689.5	+	5	2179	c.452A>G	c.(451-453)gAa>gGa	p.E151G	FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	151					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)			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)		CATGCAGATGAATTTCTTTTG	0.323																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(451-453)gAa>gGa		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							75	80	79					14																	66083061		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66083061A>G	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.452A>G	14.37:g.66083061A>G	ENSP00000353910:p.Glu151Gly					FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR	p.E151G	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	5	2179	+			151					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.452A>G	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377693	0.42105	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	T;T;T	0.24350	1.86;1.86;1.86	5.72	5.72	0.89469	.	0.097266	0.64402	D	0.000001	T	0.24198	0.0586	L	0.40543	1.245	0.80722	D	1	B	0.20988	0.05	B	0.21546	0.035	T	0.02533	-1.1145	10	0.46703	T	0.11	-17.1531	13.9443	0.64075	1.0:0.0:0.0:0.0	.	151	Q9BYC5	FUT8_HUMAN	G	151	ENSP00000353910:E151G;ENSP00000378087:E151G;ENSP00000378086:E151G	ENSP00000345865:E151G	E	+	2	0	FUT8	65152814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.272000	0.58908	2.176000	0.68965	0.455000	0.32223	GAA		0.323	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		5	113	0	0	0	1	0	5	113					G	66083061	A	G	66083061	3	3	220	1	0	0	0	0	1	0	0	0	6110	246	9	3	462	3	FUT8	14	66083061	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	45372056	66083061	41266479	26	27438											
DUOX1	53905	broad.mit.edu	37	chr15	45442843	45442843	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggggtggaggtgccTgaagtcatcaaggacctctg	15	8	3	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr15:45442843T>C	ENST00000321429.4	+	23	3239	c.2832T>C	c.(2830-2832)ccT>ccC	p.P944P	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.P590P|DUOX1_ENST00000389037.3_Silent_p.P944P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	944					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGAGGTGCCTGAAGTCATCA	0.602																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2830-2832)ccT>ccC		dual oxidase 1							57	53	54					15																	45442843		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45442843T>C	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2832T>C	15.37:g.45442843T>C						DUOX1_ENST00000389037.3_Silent_p.P944P|DUOX1_ENST00000561166.1_Silent_p.P590P	p.P944P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	23	3239	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	944					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.2832T>C	CCDS32221.1																																																																																				0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		5	68	0	0	0	1	0	5	68					C	45442843	T	C	45442843	2	2	220	1	0	0	0	0	0	0	0	1	4800	1567	55	3		3	DUOX1	15	45442843	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		45442843	57088549	27	27439											
ITGAD	3681	broad.mit.edu	37	chr16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcctgggggccccccGctaccagcataccgggaagg	14	16	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					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						GGGGCCCCCCGCTACCAGCAT	0.642																																						ENST00000389202.2																			0				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						c.(1273-1275)cGc>cAc		integrin, alpha D							39	39	39					16																	31422117		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422117G>A	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.1274G>A	16.37:g.31422117G>A	ENSP00000373854:p.Arg425His						p.R425H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			12	1323	+			425					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1274G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759141	0.49468	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41065	1.01	4.4	2.15	0.27550	.	.	.	.	.	T	0.72606	0.3481	H	0.96691	3.865	0.22656	N	0.998881	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62397	-0.6863	9	0.87932	D	0	.	8.4812	0.33043	0.2178:0.0:0.7822:0.0	.	441;425	Q59H14;Q13349	.;ITAD_HUMAN	H	441;425	ENSP00000373854:R425H	ENSP00000373854:R425H	R	+	2	0	ITGAD	31329618	0.835000	0.29415	0.993000	0.49108	0.220000	0.24768	3.197000	0.51028	0.187000	0.20147	0.197000	0.17608	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	112	0	0	0	1	0	6	112					A	31422117	G	A	31422117	3	1	220	1	0	0	0	0	1	0	0	0	7884	1087	38	1	1320	1	ITGAD	16	31422117	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		31422117	58932636	28	27440											
HSF4	3299	broad.mit.edu	37	chr16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggaagccagtcccTccccctaagaccccgcgcct	10	20	0	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|NOL3_ENST00000432069.2_5'Flank|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1471-1473)Tcc>Ccc		heat shock transcription factor 4							39	45	43					16																	67203680		1849	4065	5914	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203680T>C	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro		OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P	p.S491P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	15	2436	+		Ovarian(137;0.0563)	491					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1471T>C	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		4	142	0	0	0	1	0	4	142					C	67203680	T	C	67203680	3	2	220	1	0	0	0	0	1	0	0	0	7398	1551	54	3	1535	3	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	35781563	67203680	23151073	29	27441											
ACACA	31	broad.mit.edu	37	chr17	35549066	35549066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatgcctgatgattgcacGaacaaagaacctgtagtctg	10	8	1	4			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:35549066G>A	ENST00000394406.2	-	37	4460	c.4270C>T	c.(4270-4272)Cgt>Tgt	p.R1424C	ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C|ACACA_ENST00000353139.5_Missense_Mutation_p.R1461C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1424					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)	p.R1461C(1)|p.R1366C(1)		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)	ATGATTGCACGAACAAAGAAC	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			2	Substitution - Missense(2)	p.R1461C(1)|p.R1366C(1)	large_intestine(2)	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						c.(4381-4383)Cgt>Tgt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						143	112	122					17																	35549066		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549066G>A	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.4270C>T	17.37:g.35549066G>A	ENSP00000377928:p.Arg1424Cys					ACACA_ENST00000394406.2_Missense_Mutation_p.R1424C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C	p.R1461C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			37	4862	-		Breast(25;0.00157)|Ovarian(249;0.15)	1424					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4381C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504773	0.85176	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.68	4.67	0.58626	Acetyl-CoA carboxylase, central domain (1);	0.056310	0.64402	D	0.000001	D	0.88584	0.6476	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.87578	0.998;0.981;0.882;0.995	D	0.90801	0.4694	10	0.87932	D	0	-9.768	15.2496	0.73532	0.0:0.0:0.8325:0.1675	.	172;1461;1424;1366	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	C	1461;1366;1424;1448;1346;172	ENSP00000344789:R1461C;ENSP00000353898:R1366C;ENSP00000377928:R1424C;ENSP00000335323:R1346C	ENSP00000335323:R1346C	R	-	1	0	ACACA	32623179	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.320000	0.59203	2.669000	0.90835	0.650000	0.86243	CGT		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		43	40	0	0	0	1	0	43	40					A	35549066	G	A	35549066	3	1	220	1	0	0	0	0	1	0	0	0	106	1058	37	1	2850	1	ACACA	17	35549066	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		35549066	45646144	30	27442											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	139	0	0	0	1	0	5	139					A	38240101	G	A	38240101	3	1	220	1	0	0	0	0	1	0	0	0	15870	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	2691035	38240101	42955109	31	27443											
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	12	13	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1			keratin 25									p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562																																						ENST00000312150.4																			2	Substitution - coding silent(2)	p.A339A(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gcG>gcA		keratin 25							139	141	140					17																	38906790		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906790C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1017G>A	17.37:g.38906790C>T							p.A339A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1077	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1017G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		23	247	0	0	0	1	0	23	247					T	38906790	C	T	38906790	2	4	220	1	0	0	0	0	0	0	0	1	8462	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	666689	38906790	42288420	32	27444											
NBR1	4077	broad.mit.edu	37	chr17	41352482	41352482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgaggctgggcaggaAccagctgaggctggggaaag	21	6	0	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:41352482A>G	ENST00000422280.1	+	17	2784	c.2325A>G	c.(2323-2325)gaA>gaG	p.E775E	NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	775					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTGGGCAGGAACCAGCTGAGG	0.617																																						ENST00000422280.1																			0				NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2323-2325)gaA>gaG		neighbor of BRCA1 gene 1							25	24	24					17																	41352482		1568	3582	5150	SO:0001819	synonymous_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41352482A>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2325A>G	17.37:g.41352482A>G						NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E	p.E775E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	17	2784	+		Breast(137;0.00086)	775					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Silent	SNP	ENST00000422280.1	37	c.2325A>G	CCDS45694.1																																																																																				0.617	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		21	19	0	0	0	1	0	21	19					G	41352482	A	G	41352482	2	3	220	1	0	0	0	0	0	0	0	1	10200	40	2	3		3	NBR1	17	41352482	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	2445692	41352482	39842728	33	27445											
FBXO15	201456	broad.mit.edu	37	chr18	71740936	71740936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggtttcccatgttcatcCaaaagagttacgtccatcat	7	10	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr18:71740936C>T	ENST00000419743.2	-	10	1372	c.1293G>A	c.(1291-1293)ttG>ttA	p.L431L	FBXO15_ENST00000269500.5_Silent_p.L355L|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	431						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)		CATGTTCATCCAAAAGAGTTA	0.453																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1063-1065)ttG>ttA		F-box protein 15							156	147	150					18																	71740936		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71740936C>T	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.1293G>A	18.37:g.71740936C>T						FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.L431L	p.L355L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1400	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	355					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1065G>A	CCDS45884.1																																																																																				0.453	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		22	199	0	0	0	1	0	22	199					T	71740936	C	T	71740936	2	4	220	1	0	0	0	0	0	0	0	1	5728	593	21	2		2	FBXO15	18	71740936	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		71740936	6336312	34	27446											
SH2D3A	10045	broad.mit.edu	37	chr19	6755032	6755032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatctattctcttcctccTcatcctcctcggcctcccac	2	20	3	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:6755032T>C	ENST00000245908.6	-	5	1060	c.791A>G	c.(790-792)gAg>gGg	p.E264G	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	264	Poly-Glu.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTCTTCCTCCTCATCCTCCTC	0.622																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(790-792)gAg>gGg		SH2 domain containing 3A							161	185	177					19																	6755032		2203	4298	6501	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755032T>C	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.791A>G	19.37:g.6755032T>C	ENSP00000245908:p.Glu264Gly					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G	p.E264G	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1060	-			264			Poly-Glu.		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.791A>G	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	T	9.039	0.989294	0.18966	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.34275	2.39;1.37	4.48	0.964	0.19655	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.39210	N	0.001434	T	0.37517	0.1006	L	0.28608	0.87	0.23487	N	0.997574	D;B	0.89917	1.0;0.001	D;B	0.85130	0.997;0.003	T	0.17258	-1.0375	10	0.41790	T	0.15	-1.6309	2.5155	0.04667	0.1483:0.0881:0.1539:0.6097	.	142;264	B4DRS7;Q9BRG2	.;SH23A_HUMAN	G	264;142	ENSP00000245908:E264G;ENSP00000393303:E142G	ENSP00000245908:E264G	E	-	2	0	SH2D3A	6706032	0.428000	0.25522	0.052000	0.19188	0.082000	0.17680	0.911000	0.28584	-0.206000	0.10203	0.379000	0.24179	GAG		0.622	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		8	463	0	0	0	1	0	8	463					C	6755032	T	C	6755032	3	2	220	1	0	0	0	0	1	0	0	0	14233	1551	54	3	963	3	SH2D3A	19	6755032	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		6755032	52373951	35	27447											
ELAVL1	1994	broad.mit.edu	37	chr19	8038658	8038658	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatccgcccaaaccgAgagaacatgtcttctacgtc	8	12	2	3	rs549532291		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:8038658A>G	ENST00000407627.2	-	4	510	c.381T>C	c.(379-381)tcT>tcC	p.S127S	ELAVL1_ENST00000596459.1_Silent_p.S127S|ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	127	RRM 2. {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						GCCCAAACCGAGAGAACATGT	0.602													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18513	0.0		0.0	False		,,,				2504	0.0					ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(379-381)tcT>tcC		ELAV like RNA binding protein 1							166	129	141					19																	8038658		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8038658A>G	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.381T>C	19.37:g.8038658A>G						ELAVL1_ENST00000596459.1_Silent_p.S127S|ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S	p.S127S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			4	510	-			127			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.381T>C	CCDS12193.1																																																																																				0.602	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		12	69	0	0	0	1	0	12	69					G	8038658	A	G	8038658	2	3	220	1	0	0	0	0	0	0	0	1	5049	291	11	3		3	ELAVL1	19	8038658	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	1283626	8038658	51090325	36	27448											
LOC729991-MEF2B	100271849	broad.mit.edu	37	chr19	19260143	19260143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggaagaggcggttggcGctgttgaagatgatgagggc	18	5	0	5			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:19260143G>A	ENST00000602424.2	-	5	876	c.150C>T	c.(148-150)agC>agT	p.S50S	MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409447.2_Silent_p.S50S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	50	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGCGGTTGGCGCTGTTGAAGA	0.567																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(148-150)agC>agT		myocyte enhancer factor 2B							132	91	105					19																	19260143		2203	4300	6503	SO:0001819	synonymous_variant	100271849							g.chr19:19260143G>A	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"Myocyte enhancer factors"	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.150C>T	19.37:g.19260143G>A						MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2B_ENST00000409447.2_Silent_p.S50S	p.S50S	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		5	876	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Silent	SNP	ENST00000602424.2	37	c.150C>T	CCDS12394.1																																																																																				0.567	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		21	35	0	0	0	1	0	21	35					A	19260143	G	A	19260143	2	1	220	1	0	0	0	0	0	0	0	1	8889	1078	38	1		1	LOC729991-MEF2B	19	19260143	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	11221485	19260143	39868840	37	27449											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	10	14	1	0	rs398123018		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					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)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				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						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105	112	110					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	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.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W	p.R957W			Q9NZ71	RTEL1_HUMAN	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)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	246	0	0	0	1	0	4	246					T	62324513	C	T	62324513	3	4	220	1	0	0	0	0	1	0	0	0	13720	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		62324513	701007	38	27450											
MYO18B	84700	broad.mit.edu	37	chr22	26423239	26423239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactcccaagcctcgactaCgaacgcaagaccaaagtgga	8	13	0	1	rs554059290		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:26423239C>T	ENST00000407587.2	+	43	7471	c.7302C>T	c.(7300-7302)taC>taT	p.Y2434Y	MYO18B_ENST00000335473.7_Silent_p.Y2433Y|MYO18B_ENST00000536101.1_Silent_p.Y2433Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2433						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTCGACTACGAACGCAAGA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19203	0.0		0.0	False		,,,				2504	0.001					ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7297-7299)taC>taT		myosin XVIIIB							120	122	122					22																	26423239		2007	4167	6174	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423239C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7302C>T	22.37:g.26423239C>T						MYO18B_ENST00000407587.2_Silent_p.Y2434Y|MYO18B_ENST00000536101.1_Silent_p.Y2433Y	p.Y2433Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7549	+			2433					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7299C>T		.	.	.	.	.	.	.	.	.	.	C	0.034	-1.315817	0.01331	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.79	-6.15	0.02105	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	.	14.2888	0.66263	0.0:0.3235:0.0:0.6765	.	.	.	.	M	383	.	.	T	+	2	0	MYO18B	24753239	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.730000	0.00805	-1.160000	0.02804	0.561000	0.74099	ACG		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		52	125	0	0	0	1	0	52	125					T	26423239	C	T	26423239	2	4	220	1	0	0	0	0	0	0	0	1	10066	547	19	1		1	MYO18B	22	26423239	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		26423239	24881327	39	27451											
MORC2	22880	broad.mit.edu	37	chr22	31328609	31328609	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctcaatgcggaggcaTtcggaagtggagggctctgc	16	9	3	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:31328609T>C	ENST00000397641.3	-	23	3078	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.E828E			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	890						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCGGAGGCATTCGGAAGTGG	0.597																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2482-2484)gaA>gaG		MORC family CW-type zinc finger 2							113	87	96					22																	31328609		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31328609T>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2670A>G	22.37:g.31328609T>C						MORC2_ENST00000397641.2_Silent_p.E890E	p.E828E	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			24	3847	-			890					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.2484A>G		.	.	.	.	.	.	.	.	.	.	T	0.400	-0.918878	0.02396	.	.	ENSG00000133422	ENST00000445980	.	.	.	5.95	-0.0887	0.13672	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22347	-1.0219	4	.	.	.	.	2.5488	0.04743	0.1257:0.3069:0.264:0.3034	.	.	.	.	V	52	.	.	M	-	1	0	MORC2	29658609	0.994000	0.37717	0.838000	0.33150	0.007000	0.05969	0.119000	0.15626	-0.141000	0.11374	-1.482000	0.00985	ATG		0.597	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		19	66	0	0	0	1	0	19	66					C	31328609	T	C	31328609	2	2	220	1	0	0	0	0	0	0	0	1	9702	1490	52	3		3	MORC2	22	31328609	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	4905370	31328609	19975957	40	27452											
USP11	8237	broad.mit.edu	37	chrX	47107222	47107222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatgtcctcttctaccaaCgccaggacgtggcgcgacgc	10	16	2	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:47107222C>T	ENST00000218348.3	+	21	2785	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C	USP11_ENST00000377107.2_Missense_Mutation_p.R886C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	929	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						CTTCTACCAACGCCAGGACGT	0.637																																						ENST00000377107.2																			0				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						c.(2656-2658)Cgc>Tgc		ubiquitin specific peptidase 11							71	55	60					X																	47107222		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47107222C>T	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.2785C>T	X.37:g.47107222C>T	ENSP00000218348:p.Arg929Cys					USP11_ENST00000218348.3_Missense_Mutation_p.R929C	p.R886C			P51784	UBP11_HUMAN			21	3010	+			929					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.2656C>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.238283	0.79800	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.58210	0.35;0.35	4.89	4.89	0.63831	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.45361	D	0.000370	T	0.61274	0.2334	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.66424	-0.5927	10	0.87932	D	0	-19.7832	15.8218	0.78654	0.0:1.0:0.0:0.0	.	655;929	B3KP28;P51784	.;UBP11_HUMAN	C	886;929	ENSP00000366311:R886C;ENSP00000218348:R929C	ENSP00000218348:R929C	R	+	1	0	USP11	46992166	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	3.344000	0.52174	2.247000	0.74100	0.431000	0.28591	CGC		0.637	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		33	61	0	0	0	1	0	33	61					T	47107222	C	T	47107222	3	4	220	1	0	0	0	0	1	0	0	0	17039	536	19	1	2867	1	USP11	23	47107222	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		47107222	108163338	41	27453											
FGD1	2245	broad.mit.edu	37	chrX	54497147	54497147	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggggatgggctccagTggggggggcatccggggcat	24	7	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:54497147T>G	ENST00000375135.3	-	3	1261	c.528A>C	c.(526-528)ccA>ccC	p.P176P		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	176	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGCTCCAGTGGGGGGGGCA	0.662																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39	GRCh37	CI042239	FGD1	I		c.(526-528)ccA>ccC		FYVE, RhoGEF and PH domain containing 1							4	5	5					X																	54497147		2066	3989	6055	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497147T>G	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.528A>C	X.37:g.54497147T>G							p.P176P	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			3	1261	-			176			Pro-rich.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.528A>C	CCDS14359.1																																																																																				0.662	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		4	13	0	0	0	1	0	4	13					G	54497147	T	G	54497147	2	3	220	1	0	0	0	0	0	0	0	1	5832	1683	59	5		5	FGD1	23	54497147	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	7389925	54497147	100773413	42	27454											
POF1B	79983	broad.mit.edu	37	chrX	84614572	84614572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctgttcaggattttgtaCtacatatttcctaatagtgg	7	7	1	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:84614572C>A	ENST00000262753.4	-	4	566	c.421G>T	c.(421-423)Gta>Tta	p.V141L	POF1B_ENST00000373145.3_Missense_Mutation_p.V141L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	141						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGATTTTGTACTACATATTTC	0.328																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(421-423)Gta>Tta		premature ovarian failure, 1B							172	151	158					X																	84614572		2203	4297	6500	SO:0001583	missense	79983						actin binding	g.chrX:84614572C>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.421G>T	X.37:g.84614572C>A	ENSP00000262753:p.Val141Leu					POF1B_ENST00000373145.3_Missense_Mutation_p.V141L	p.V141L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			4	566	-			141					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.421G>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600581	0.28534	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.15017	2.46;2.46	4.77	3.91	0.45181	.	0.134893	0.33631	N	0.004711	T	0.14570	0.0352	L	0.44542	1.39	0.31065	N	0.713715	B;B	0.26147	0.143;0.033	B;B	0.26969	0.075;0.023	T	0.07462	-1.0771	10	0.48119	T	0.1	.	8.0014	0.30299	0.0:0.8869:0.0:0.1131	.	141;141	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	L	141	ENSP00000262753:V141L;ENSP00000362238:V141L	ENSP00000262753:V141L	V	-	1	0	POF1B	84501228	0.997000	0.39634	0.974000	0.42286	0.609000	0.37215	1.110000	0.31147	1.010000	0.39314	-0.315000	0.08773	GTA		0.328	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		37	53	1	0	3.03874e-20	1	3.03874e-20	37	53					A	84614572	C	A	84614572	3	1	220	1	0	0	0	0	1	0	0	0	12182	565	20	4	1404	4	POF1B	23	84614572	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	30117425	84614572	70655988	43	27455											
MMEL1	79258	broad.mit.edu	37	chr1	2527503	2527503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcccagctcgtccagcGtctccacaaacactgtccgc	7	19	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:2527503G>A	ENST00000378412.3	-	15	1606	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	MMEL1_ENST00000288709.6_Missense_Mutation_p.T473M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	482						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTCGTCCAGCGTCTCCACAAA	0.607																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1417-1419)aCg>aTg		membrane metallo-endopeptidase-like 1							246	206	220					1																	2527503		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2527503G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1445C>T	1.37:g.2527503G>A	ENSP00000367668:p.Thr482Met					MMEL1_ENST00000378412.3_Missense_Mutation_p.T482M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M	p.T473M	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	15	1658	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	482					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1418C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804832	0.50315	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.73575	-0.76;-0.76;-0.76	5.24	1.62	0.23740	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.196730	0.53938	N	0.000047	T	0.74966	0.3786	L	0.41824	1.3	0.46849	D	0.999229	D	0.67145	0.996	D	0.63381	0.914	T	0.70850	-0.4760	10	0.49607	T	0.09	-12.8791	7.927	0.29880	0.0762:0.0:0.5492:0.3746	.	482	Q495T6	MMEL1_HUMAN	M	325;473;482;325	ENSP00000288709:T473M;ENSP00000367668:T482M;ENSP00000422492:T325M	ENSP00000288709:T473M	T	-	2	0	MMEL1	2517363	0.986000	0.35501	0.237000	0.24090	0.729000	0.41735	1.867000	0.39499	0.077000	0.16863	0.650000	0.86243	ACG		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		5	200	0	0	0	1	0	5	200					A	2527503	G	A	2527503	3	1	221	1	0	0	0	0	1	0	0	0	9646	1145	40	1	934	1	MMEL1	1	2527503	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		2527503	246723118	1	27456											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837337	12837337	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcaagctgaggccacCctgcagaccctggacttaga	12	13	0	3	rs371643266		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:12837337C>A	ENST00000357726.4	+	3	1074	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	349					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)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGGCCACCCTGCAGACCC	0.597																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1045-1047)acC>acA		PRAME family member 12		C		1,4405		0,1,2202	87	89	88		1047	1.9	0.4	1		88	1,8599		0,1,4299	no	coding-synonymous	PRAMEF12	NM_001080830.1		0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154		349/484	12837337	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837337C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1047C>A	1.37:g.12837337C>A							p.T349T	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1074	+	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)	349						Silent	SNP	ENST00000357726.4	37	c.1047C>A	CCDS41254.1																																																																																				0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		10	89	1	0	0.0581538	1	0.0606822	10	89					A	12837337	C	A	12837337	2	1	221	1	0	0	0	0	0	0	0	1	12428	610	22	4		4	PRAMEF12	1	12837337	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	10309834	12837337	236413284	2	27457											
PLEKHM2	23207	broad.mit.edu	37	chr1	16060354	16060354	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaattcgaggatgccttGagcctcatccacagcgcctg	10	12	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:16060354G>A	ENST00000375799.3	+	20	3212	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	SLC25A34_ENST00000294454.5_5'Flank|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.L975L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	995					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGATGCCTTGAGCCTCATCC	0.642																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2983-2985)ttG>ttA		pleckstrin homology domain containing, family M (with RUN domain) member 2							63	73	69					1																	16060354		2083	4202	6285	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16060354G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2985G>A	1.37:g.16060354G>A						RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.L975L	p.L995L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	20	3212	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	995					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.2985G>A	CCDS44063.1																																																																																				0.642	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		39	53	0	0	0	1	0	39	53					A	16060354	G	A	16060354	2	1	221	1	0	0	0	0	0	0	0	1	12081	1281	45	2		2	PLEKHM2	1	16060354	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	3223017	16060354	233190267	3	27458											
FUCA1	2517	broad.mit.edu	37	chr1	24175224	24175224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgatgctcagccatttccCaacagcaagaagcctttctt	6	12	2	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:24175224C>A	ENST00000374479.3	-	6	1082	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	359					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCCATTTCCCAACAGCAAGA	0.463																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(1075-1077)Ggg>Tgg		fucosidase, alpha-L- 1, tissue							134	113	120					1																	24175224		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24175224C>A	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1075G>T	1.37:g.24175224C>A	ENSP00000363603:p.Gly359Trp						p.G359W	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	6	1082	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	359					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.1075G>T	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530705	0.85706	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.70045	-0.45	4.86	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.089238	0.85682	D	0.000000	D	0.90307	0.6968	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94449	0.7665	10	0.87932	D	0	-15.4484	18.6119	0.91288	0.0:1.0:0.0:0.0	.	359	P04066	FUCO_HUMAN	W	359;148	ENSP00000363603:G359W	ENSP00000363599:G148W	G	-	1	0	FUCA1	24047811	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	7.294000	0.78760	2.687000	0.91594	0.650000	0.86243	GGG		0.463	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		4	64	1	0	0.150653	1	0.155848	4	64					A	24175224	C	A	24175224	3	1	221	1	0	0	0	0	1	0	0	0	6094	594	21	4	337	4	FUCA1	1	24175224	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	8114870	24175224	225075397	4	27459											
INADL	10207	broad.mit.edu	37	chr1	62329953	62329953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaagaacttgtggatgAaccatttctagatctgggaa	10	5	2	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:62329953A>G	ENST00000371158.2	+	20	2597	c.2483A>G	c.(2482-2484)gAa>gGa	p.E828G	INADL_ENST00000316485.6_Missense_Mutation_p.E828G	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	828					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						CTTGTGGATGAACCATTTCTA	0.383																																						ENST00000371158.2																			0				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						c.(2482-2484)gAa>gGa		InaD-like (Drosophila)							59	62	61					1																	62329953		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62329953A>G	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.2483A>G	1.37:g.62329953A>G	ENSP00000360200:p.Glu828Gly					INADL_ENST00000316485.6_Missense_Mutation_p.E828G	p.E828G	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			20	2597	+			828					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2483A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121091	0.56613	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.16597	2.47;2.33	5.17	4.03	0.46877	.	0.568109	0.16725	N	0.202108	T	0.27832	0.0685	L	0.60455	1.87	0.80722	D	1	D;P;P	0.54601	0.967;0.546;0.726	P;B;P	0.53102	0.718;0.205;0.451	T	0.01648	-1.1304	10	0.49607	T	0.09	.	11.0383	0.47816	0.9255:0.0:0.0745:0.0	.	828;828;828	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	G	828	ENSP00000360200:E828G;ENSP00000326199:E828G	ENSP00000255202:E828G	E	+	2	0	INADL	62102541	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	4.399000	0.59703	1.950000	0.56595	0.454000	0.30748	GAA		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		5	51	0	0	0	1	0	5	51					G	62329953	A	G	62329953	3	3	221	1	0	0	0	0	1	0	0	0	7731	246	9	3	2557	3	INADL	1	62329953	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	38154729	62329953	186920668	5	27460											
USP33	23032	broad.mit.edu	37	chr1	78163125	78163125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taaatagactgcagaaaattCcatgtttcttcagaaatctg	6	7	3	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:78163125C>A	ENST00000370793.1	-	25	3052	c.2706G>T	c.(2704-2706)tgG>tgT	p.W902C	USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	902	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				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						GCAGAAAATTCCATGTTTCTT	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2704-2706)tgG>tgT		ubiquitin specific peptidase 33							88	95	92					1																	78163125		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78163125C>A	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.2706G>T	1.37:g.78163125C>A	ENSP00000359829:p.Trp902Cys					USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	p.W902C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			25	3052	-			902			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2706G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264964	0.80358	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.31510	1.55;1.49;1.49	5.0	5.0	0.66597	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75761	-0.3204	10	0.87932	D	0	.	18.6967	0.91603	0.0:1.0:0.0:0.0	.	902	Q8TEY7	UBP33_HUMAN	C	871;902;902	ENSP00000359830:W871C;ENSP00000359829:W902C;ENSP00000350009:W902C	ENSP00000350009:W902C	W	-	3	0	USP33	77935713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.366000	0.79548	2.486000	0.83907	0.650000	0.86243	TGG		0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		6	114	1	0	0.00116845	1	0.00127467	6	114					A	78163125	C	A	78163125	3	1	221	1	0	0	0	0	1	0	0	0	17061	856	30	4	126	4	USP33	1	78163125	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	15833172	78163125	171087496	6	27461											
FCRL5	83416	broad.mit.edu	37	chr1	157516958	157516958	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtggtccatggaggctGgaggaaaataatgggcctgg	17	6	0	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:157516958G>A	ENST00000361835.3	-	3	239	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	28	Ig-like C2-type 1.				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)				CATGGAGGCTGGAGGAAAATA	0.537																																						ENST00000361835.3																			0				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						c.(82-84)Cag>Tag		Fc receptor-like 5							120	114	116					1																	157516958		2203	4300	6503	SO:0001587	stop_gained	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516958G>A	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.82C>T	1.37:g.157516958G>A	ENSP00000354691:p.Gln28*					FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron	p.Q28*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	239	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	28			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Nonsense_Mutation	SNP	ENST00000361835.3	37	c.82C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307235	0.60305	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	.	.	.	5.01	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	8.9361	0.35700	0.0:0.1355:0.3096:0.5549	.	.	.	.	X	28	.	ENSP00000349434:Q28X	Q	-	1	0	FCRL5	155783582	0.001000	0.12720	0.002000	0.10522	0.108000	0.19459	-0.772000	0.04694	-0.138000	0.11434	-0.188000	0.12872	CAG		0.537	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		28	96	0	0	0	1	0	28	96					A	157516958	G	A	157516958	4	1	221	1	0	0	0	0	0	1	0	0	5798	1357	47	2	2911	2	FCRL5	1	157516958	Nonsense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	79353833	157516958	91733663	7	27462											
LAMC2	3918	broad.mit.edu	37	chr1	183192355	183192355	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggcagacacccatcTgcccatgatgtgattctgga	12	10	2	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:183192355T>A	ENST00000264144.4	+	7	914	c.849T>A	c.(847-849)tcT>tcA	p.S283S	LAMC2_ENST00000493293.1_Silent_p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	283	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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						GACACCCATCTGCCCATGATG	0.507																																						ENST00000264144.4																			0				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						c.(847-849)tcT>tcA		laminin, gamma 2							126	121	123					1																	183192355		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183192355T>A	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.849T>A	1.37:g.183192355T>A						LAMC2_ENST00000493293.1_Silent_p.S283S	p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			7	914	+			283			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.849T>A	CCDS1352.1																																																																																				0.507	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		4	76	0	0	0	1	0	4	76					A	183192355	T	A	183192355	2	1	221	1	0	0	0	0	0	0	0	1	8615	1567	55	5		5	LAMC2	1	183192355	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	25675397	183192355	66058266	8	27463											
F13B	2165	broad.mit.edu	37	chr1	197029657	197029657	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattttcaattaatcttaaaGaagagcactttaattctgca	4	7	3	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:197029657G>A	ENST00000367412.1	-	5	687	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	215	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATCTTAAAGAAGAGCACTT	0.264																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(643-645)tCt>tTt		coagulation factor XIII, B polypeptide							32	36	35					1																	197029657		2190	4285	6475	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197029657G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.644C>T	1.37:g.197029657G>A	ENSP00000356382:p.Ser215Phe						p.S215F	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			5	687	-			215			Sushi 4.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.644C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286817	0.40494	.	.	ENSG00000143278	ENST00000367412	T	0.64991	-0.13	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.264128	0.20285	N	0.095372	T	0.43055	0.1230	N	0.12569	0.235	0.34184	D	0.671249	B	0.26744	0.158	B	0.25884	0.064	T	0.54146	-0.8337	10	0.56958	D	0.05	.	9.4206	0.38548	0.0716:0.0:0.7844:0.144	.	215	P05160	F13B_HUMAN	F	215	ENSP00000356382:S215F	ENSP00000356382:S215F	S	-	2	0	F13B	195296280	0.954000	0.32549	0.874000	0.34290	0.996000	0.88848	2.641000	0.46587	2.879000	0.98667	0.650000	0.86243	TCT		0.264	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		9	16	0	0	0	1	0	9	16					A	197029657	G	A	197029657	3	1	221	1	0	0	0	0	1	0	0	0	5341	942	33	2	1373	2	F13B	1	197029657	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	13837302	197029657	52220964	9	27464											
GPR37L1	9283	broad.mit.edu	37	chr1	202097469	202097469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcttcaagggcgccAtcaccccagtgctgctcctt	7	18	3	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:202097469A>G	ENST00000367282.5	+	2	1337	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	411					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CAAGGGCGCCATCACCCCAGT	0.647																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1231-1233)Atc>Gtc		G protein-coupled receptor 37 like 1							104	95	98					1																	202097469		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097469A>G	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1231A>G	1.37:g.202097469A>G	ENSP00000356251:p.Ile411Val						p.I411V	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1337	+			411					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.1231A>G	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	A	0.405	-0.916146	0.02415	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.37411	1.2	5.12	-5.63	0.02474	GPCR, rhodopsin-like superfamily (1);	0.842357	0.10784	N	0.634580	T	0.08313	0.0207	N	0.00760	-1.21	0.25589	N	0.986712	B	0.02656	0.0	B	0.04013	0.001	T	0.38628	-0.9652	10	0.02654	T	1	-16.1536	10.0964	0.42478	0.2281:0.1041:0.6678:0.0	.	411	O60883	ETBR2_HUMAN	V	278;411	ENSP00000356251:I411V	ENSP00000356251:I411V	I	+	1	0	GPR37L1	200364092	0.493000	0.26035	0.076000	0.20297	0.770000	0.43624	0.932000	0.28884	-1.062000	0.03181	-0.441000	0.05720	ATC		0.647	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		31	41	0	0	0	1	0	31	41					G	202097469	A	G	202097469	3	3	221	1	0	0	0	0	1	0	0	0	6692	217	8	3	1237	3	GPR37L1	1	202097469	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	5067812	202097469	47153152	10	27465											
C2orf70	339778	broad.mit.edu	37	chr2	26798818	26798818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctttggcgctccctaCggcaccaccaccctcaagta	6	18	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:26798818C>T	ENST00000329615.3	+	2	154	c.123C>T	c.(121-123)taC>taT	p.Y41Y	C2orf70_ENST00000409392.1_Missense_Mutation_p.R29W	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	41						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GCGCTCCCTACGGCACCACCA	0.627																																						ENST00000409392.1																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						c.(85-87)Cgg>Tgg		chromosome 2 open reading frame 70							77	81	80					2																	26798818		2071	4201	6272	SO:0001819	synonymous_variant	339778							g.chr2:26798818C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"hypothetical protein LOC339778"						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.123C>T	2.37:g.26798818C>T						C2orf70_ENST00000329615.3_Silent_p.Y41Y	p.R29W			A6NJV1	CB070_HUMAN			3	187	+			147						Missense_Mutation	SNP	ENST00000329615.3	37	c.85C>T	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	2.537	-0.307111	0.05458	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.5	-7.01	0.01594	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.60409	-0.7269	5	0.87932	D	0	-15.8313	15.5338	0.75986	0.0:0.2677:0.0:0.7323	.	.	.	.	W	29	.	ENSP00000386615:R29W	R	+	1	2	C2orf70	26652322	0.000000	0.05858	0.021000	0.16686	0.174000	0.22865	-4.011000	0.00314	-1.735000	0.01353	-1.449000	0.01048	CGG		0.627	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		16	48	0	0	0	1	0	16	48					T	26798818	C	T	26798818	2	4	221	1	0	0	0	0	0	0	0	1	2190	547	19	1		1	C2orf70	2	26798818	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		26798818	216400555	11	27466											
ANAPC1	64682	broad.mit.edu	37	chr2	112536312	112536312	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcctgggtaacacattcataGagtactgaagaaaagagatc	9	7	1	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:112536312G>C	ENST00000341068.3	-	45	6097	c.5325C>G	c.(5323-5325)ctC>ctG	p.L1775L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1775					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)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACATTCATAGAGTACTGAAG	0.373																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(5323-5325)ctC>ctG		anaphase promoting complex subunit 1							83	71	75					2																	112536312		2201	4297	6498	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112536312G>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5325C>G	2.37:g.112536312G>C							p.L1775L	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			45	6097	-			1775					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.5325C>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	7.497	0.651834	0.14516	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.05	-3.27	0.05048	.	0.000000	0.41001	D	0.000979	T	0.19087	0.0458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18241	-1.0343	6	0.07990	T	0.79	-3.8848	0.7229	0.00944	0.2783:0.2977:0.2226:0.2014	.	.	.	.	V	1310	.	ENSP00000396695:L1310V	L	-	1	2	ANAPC1	112252783	0.000000	0.05858	0.976000	0.42696	0.991000	0.79684	-4.080000	0.00299	-0.748000	0.04753	-0.266000	0.10368	CTA		0.373	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		11	61	0	0	0	1	0	11	61					C	112536312	G	C	112536312	2	2	221	1	0	0	0	0	0	0	0	1	598	929	33	4		4	ANAPC1	2	112536312	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	85737494	112536312	130663061	12	27467											
LRP2	4036	broad.mit.edu	37	chr2	170068686	170068686	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacaggcattcatgttGttgctacagccatttgagga	11	8	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:170068686G>T	ENST00000263816.3	-	37	6357	c.6072C>A	c.(6070-6072)aaC>aaA	p.N2024K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2024	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)"	CATTCATGTTGTTGCTACAGC	0.443																																						ENST00000263816.3																			0				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						c.(6070-6072)aaC>aaA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						76	81	80					2																	170068686		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170068686G>T		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.6072C>A	2.37:g.170068686G>T	ENSP00000263816:p.Asn2024Lys						p.N2024K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6357	-			2024			EGF-like 8.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6072C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260500	0.59431	.	.	ENSG00000081479	ENST00000263816	D	0.96232	-3.95	5.88	1.52	0.23074	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.084779	0.85682	D	0.000000	D	0.95020	0.8388	L	0.43701	1.375	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91486	0.5208	10	0.05959	T	0.93	.	6.5398	0.22375	0.3361:0.1323:0.5317:0.0	.	2024	P98164	LRP2_HUMAN	K	2024	ENSP00000263816:N2024K	ENSP00000263816:N2024K	N	-	3	2	LRP2	169776932	0.997000	0.39634	0.980000	0.43619	0.899000	0.52679	0.981000	0.29526	0.387000	0.25024	-0.176000	0.13171	AAC		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	66	1	0	2.56e-06	1	3.10303e-06	4	66					T	170068686	G	T	170068686	3	4	221	1	0	0	0	0	1	0	0	0	8956	1368	48	4	8067	4	LRP2	2	170068686	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	57532374	170068686	73130687	13	27468											
TTN	7273	broad.mit.edu	37	chr2	179639178	179639178	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttctatgtcctgaagttcTttcacaaactcaacaactgc	4	12	4	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:179639178T>A	ENST00000591111.1	-	30	7037	c.6813A>T	c.(6811-6813)aaA>aaT	p.K2271N	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K2271N|TTN_ENST00000589042.1_Missense_Mutation_p.K2271N|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N			Q8WZ42	TITIN_HUMAN	titin	12594	Ig-like 12.				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)			CCTGAAGTTCTTTCACAAACT	0.353																																						ENST00000589042.1																			0				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						c.(6811-6813)aaA>aaT		titin							53	53	53					2																	179639178		2202	4300	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639178T>A	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.6813A>T	2.37:g.179639178T>A	ENSP00000465570:p.Lys2271Asn					TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K2271N|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN_ENST00000360870.5_Missense_Mutation_p.K2271N	p.K2271N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7037	-			1995			Ig-like 12.		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	ENST00000591111.1	37	c.6813A>T		.	.	.	.	.	.	.	.	.	.	T	10.06	1.246557	0.22796	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.6	4.44	0.53790	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79787	0.4506	M	0.71036	2.16	0.27042	N	0.963999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.71394	-0.4606	9	0.87932	D	0	.	10.9746	0.47459	0.0:0.1351:0.0:0.8649	.	2225;2225;2225;2271;2271	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	2271;2225;2225;2225;2225;2271	ENSP00000343764:K2271N;ENSP00000434586:K2225N;ENSP00000340554:K2225N;ENSP00000352154:K2225N;ENSP00000354117:K2271N	ENSP00000340554:K2225N	K	-	3	2	TTN	179347423	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.425000	0.34859	0.407000	0.25591	-1.481000	0.00988	AAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	20	0	0	0	1	0	4	20					A	179639178	T	A	179639178	3	1	221	1	0	0	0	0	1	0	0	0	16732	1606	56	5	104507	5	TTN	2	179639178	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	9570492	179639178	63560195	14	27469											
NBEAL1	65065	broad.mit.edu	37	chr2	204013825	204013825	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccactcttagacgctggaaaGcaatacagctctatcttaca	6	12	3	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:204013825G>C	ENST00000449802.1	+	33	5662	c.5329G>C	c.(5329-5331)Gca>Cca	p.A1777P		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1777										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						ACGCTGGAAAGCAATACAGCT	0.388																																						ENST00000449802.1																			0				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						c.(5329-5331)Gca>Cca		neurobeachin-like 1							77	71	73					2																	204013825		1845	4081	5926	SO:0001583	missense	65065						binding	g.chr2:204013825G>C	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.5329G>C	2.37:g.204013825G>C	ENSP00000399903:p.Ala1777Pro						p.A1777P	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			33	5662	+			1777					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5329G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486161	0.84854	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56444	0.46	5.96	3.11	0.35812	.	0.163209	0.53938	D	0.000054	T	0.47637	0.1456	M	0.70275	2.135	0.58432	D	0.999998	P;P	0.45396	0.857;0.857	B;B	0.39706	0.307;0.307	T	0.44892	-0.9298	10	0.39692	T	0.17	.	8.4227	0.32710	0.1342:0.0:0.739:0.1267	.	1777;1766	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	P	1777	ENSP00000399903:A1777P	ENSP00000344985:A1777P	A	+	1	0	NBEAL1	203722070	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	3.762000	0.55250	0.855000	0.35359	0.655000	0.94253	GCA		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			7	29	0	0	0	1	0	7	29					C	204013825	G	C	204013825	3	2	221	1	0	0	0	0	1	0	0	0	10188	971	34	4	5455	4	NBEAL1	2	204013825	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	24374647	204013825	39185548	15	27470											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	35	0	0	0	1	0	10	35					T	209113112	C	T	209113112	3	4	221	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	5099287	209113112	34086261	16	27471											
FN1	2335	broad.mit.edu	37	chr2	216292953	216292953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcacacttccactctcctCggccgttgcctgtgcagatg	8	16	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:216292953C>T	ENST00000359671.1	-	6	1059	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000354785.4_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q			P02751	FINC_HUMAN	fibronectin 1	265	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCACTCTCCTCGGCCGTTGCC	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(793-795)cGa>cAa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128	108	115					2																	216292953		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292953C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.794G>A	2.37:g.216292953C>T	ENSP00000352696:p.Arg265Gln					FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000359671.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q|FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q	p.R265Q			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1163	-		Renal(323;0.127)	265			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.794G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.672949	0.96754	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;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;0.74	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.69151	0.3079	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.961;1.0;1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;P;D;D;D;D;D;D;D	0.91635	0.999;0.991;0.974;0.688;0.975;0.985;0.999;0.952;0.975;0.975;0.991	T	0.68723	-0.5333	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	265;265;265;265;265;265;265;265;265;265;265	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	265	ENSP00000394423:R265Q;ENSP00000323534:R265Q;ENSP00000338200:R265Q;ENSP00000350534:R265Q;ENSP00000346839:R265Q;ENSP00000352696:R265Q;ENSP00000265312:R265Q;ENSP00000273049:R265Q;ENSP00000349509:R265Q;ENSP00000410422:R265Q;ENSP00000415018:R265Q;ENSP00000399538:R265Q;ENSP00000348285:R265Q;ENSP00000398907:R265Q	ENSP00000265313:R265Q	R	-	2	0	FN1	216001198	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	CGA		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		3	54	0	0	0	1	0	3	54					T	216292953	C	T	216292953	3	4	221	1	0	0	0	0	1	0	0	0	5962	884	31	1	6836	1	FN1	2	216292953	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	7179841	216292953	26906420	17	27472											
TMEM43	79188	broad.mit.edu	37	chr3	14177320	14177320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaggtcactgtgattgCccggcagcggggtgaccagc	15	12	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:14177320C>T	ENST00000306077.4	+	10	1048	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RP11-434D12.1_ENST00000608606.1_Silent_p.C10C	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	265					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						ACTGTGATTGCCCGGCAGCGG	0.632																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(793-795)gCc>gTc		transmembrane protein 43							86	83	84					3																	14177320		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14177320C>T	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.794C>T	3.37:g.14177320C>T	ENSP00000303992:p.Ala265Val						p.A265V	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN			10	1048	+			265					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.794C>T	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676370	0.88445	.	.	ENSG00000170876	ENST00000306077	T	0.50548	0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.75615	2.305	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.87578	0.998;0.806	T	0.72899	-0.4152	10	0.72032	D	0.01	-22.0564	19.7949	0.96477	0.0:1.0:0.0:0.0	.	195;265	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	V	265	ENSP00000303992:A265V	ENSP00000303992:A265V	A	+	2	0	TMEM43	14152321	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.849000	0.75414	2.691000	0.91804	0.591000	0.81541	GCC		0.632	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		4	82	0	0	0	1	0	4	82					T	14177320	C	T	14177320	3	4	221	1	0	0	0	0	1	0	0	0	16164	739	26	2	832	2	TMEM43	3	14177320	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		14177320	183845110	18	27473											
SETD2	29072	broad.mit.edu	37	chr3	47143009	47143009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaccagtttggtggTaaaaaacccaaccctcagtt	9	9	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:47143009T>G	ENST00000409792.3	-	8	4996	c.4954A>C	c.(4954-4956)Acc>Ccc	p.T1652P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1652	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCA	0.398			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4954-4956)Acc>Ccc		SET domain containing 2							158	157	157					3																	47143009		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47143009T>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4954A>C	3.37:g.47143009T>G	ENSP00000386759:p.Thr1652Pro						p.T1652P	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	8	4996	-		Acute lymphoblastic leukemia(5;0.0169)	1652			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4954A>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943959	0.92593	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.81415	-1.49	5.94	5.94	0.96194	SET domain (3);	0.000000	0.56097	D	0.000036	D	0.90758	0.7099	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92082	0.5673	10	0.87932	D	0	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	1652;1652	F2Z317;Q9BYW2	.;SETD2_HUMAN	P	1652	ENSP00000386759:T1652P	ENSP00000386759:T1652P	T	-	1	0	SETD2	47118013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.955000	0.87856	2.275000	0.75901	0.528000	0.53228	ACC		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		42	142	0	0	0	1	0	42	142					G	47143009	T	G	47143009	3	3	221	1	0	0	0	0	1	0	0	0	14131	1638	57	5	2796	5	SETD2	3	47143009	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	32965689	47143009	150879421	19	27474											
C3orf15	89876	broad.mit.edu	37	chr3	119462954	119462954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtcatgctggctgagCgccagcggcgggtacgagag	16	11	1	2	rs142545565		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:119462954C>T	ENST00000273390.5	+	14	1890	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	441						mitochondrion (GO:0005739)		p.R605C(1)									GCTGGCTGAGCGCCAGCGGCG	0.582																																						ENST00000273390.5																			1	Substitution - Missense(1)	p.R605C(1)	endometrium(1)								c.(1813-1815)Cgc>Tgc		MYCBP-associated, testis expressed 1		C	CYS/ARG	0,4406		0,0,2203	83	76	79		1813	1.2	0.8	3	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	605/768	119462954	1,13005	2203	4300	6503	SO:0001583	missense	89876							g.chr3:119462954C>T	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.1813C>T	3.37:g.119462954C>T	ENSP00000273390:p.Arg605Cys						p.R605C	NM_033364.3	NP_203528.2					14	1890	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1813C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961632	0.74016	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.30182	1.54	5.65	1.18	0.20946	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.85197	2.74	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	T	0.68981	-0.5266	10	0.87932	D	0	-12.6434	16.1506	0.81618	0.5148:0.4852:0.0:0.0	.	441;543;605	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	C	605	ENSP00000273390:R605C	ENSP00000273390:R605C	R	+	1	0	C3orf15	120945644	0.999000	0.42202	0.837000	0.33122	0.947000	0.59692	0.817000	0.27281	0.288000	0.22398	0.484000	0.47621	CGC		0.582	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		14	79	0	0	0	1	0	14	79					T	119462954	C	T	119462954	3	4	221	1	0	0	0	0	1	0	0	0	2209	768	27	1	1867	1	C3orf15	3	119462954	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	72319945	119462954	78559476	20	27475											
CEP70	80321	broad.mit.edu	37	chr3	138290122	138290122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattacctttgagatctgttCttttgactagagacaaaggt	8	6	2	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:138290122C>T	ENST00000264982.3	-	4	412	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	49					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)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GAGATCTGTTCTTTTGACTAG	0.303																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(145-147)aGa>aAa		centrosomal protein 70kDa							74	72	73					3																	138290122		2202	4298	6500	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138290122C>T	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.146G>A	3.37:g.138290122C>T	ENSP00000264982:p.Arg49Lys					CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K|CEP70_ENST00000489254.1_Intron	p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			4	412	-			49					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.146G>A	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	1.812	-0.474502	0.04414	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.42131	1.58;1.59;1.58;1.59;1.58;1.0;1.0;0.98	5.25	4.38	0.52667	.	0.371203	0.29225	N	0.012769	T	0.29976	0.0750	L	0.47716	1.5	0.19945	N	0.999946	B;B;B	0.16603	0.007;0.008;0.018	B;B;B	0.12156	0.005;0.007;0.007	T	0.29243	-1.0018	10	0.05833	T	0.94	-11.2185	9.4041	0.38451	0.0:0.9046:0.0:0.0954	.	29;49;49	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	K	49;29;49;31;49;28;29;49;49	ENSP00000264982:R49K;ENSP00000444128:R29K;ENSP00000419231:R49K;ENSP00000419833:R31K;ENSP00000417465:R49K;ENSP00000418131:R28K;ENSP00000417819:R29K;ENSP00000419743:R49K	ENSP00000264982:R49K	R	-	2	0	CEP70	139772812	0.730000	0.28100	0.672000	0.29872	0.555000	0.35460	1.122000	0.31295	1.432000	0.47375	0.655000	0.94253	AGA		0.303	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		6	22	0	0	0	1	0	6	22					T	138290122	C	T	138290122	3	4	221	1	0	0	0	0	1	0	0	0	3259	913	32	2	1707	2	CEP70	3	138290122	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	18827168	138290122	59732308	21	27476											
SYNPO2	171024	broad.mit.edu	37	chr4	119948345	119948345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgagagtgatccaggaaaGtgaagcaggagatgcgggac	17	5	0	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:119948345G>T	ENST00000429713.2	+	3	1003	c.821G>T	c.(820-822)aGt>aTt	p.S274I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.S274I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	274						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						ATCCAGGAAAGTGAAGCAGGA	0.522																																						ENST00000307142.4																			0				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						c.(820-822)aGt>aTt		synaptopodin 2							68	71	70					4																	119948345		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948345G>T	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.821G>T	4.37:g.119948345G>T	ENSP00000395143:p.Ser274Ile					SYNPO2_ENST00000429713.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I	p.S274I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			3	1017	+			274					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.821G>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.759419|1.759419	0.31137|0.31137	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.08984	.|3.03;3.03;3.03	5.11|5.11	-0.0287|-0.0287	0.13921|0.13921	.|.	.|1.211810	.|0.05627	.|N	.|0.580974	T|T	0.09818|0.09818	0.0241|0.0241	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.26195	.|0.089;0.144;0.089;0.089	.|B;B;B;B	.|0.28784	.|0.043;0.094;0.07;0.043	T|T	0.41378|0.41378	-0.9512|-0.9512	5|10	.|0.44086	.|T	.|0.13	3.4915|3.4915	6.2573|6.2573	0.20881|0.20881	0.2521:0.3848:0.363:0.0|0.2521:0.3848:0.363:0.0	.|.	.|274;274;274;274	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	N|I	225|274	.|ENSP00000306015:S274I;ENSP00000395143:S274I;ENSP00000390965:S274I	.|ENSP00000306015:S274I	K|S	+|+	3|2	2|0	SYNPO2|SYNPO2	120167793|120167793	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	1.003000|1.003000	0.29809|0.29809	0.006000|0.006000	0.14734|0.14734	0.557000|0.557000	0.71058|0.71058	AAG|AGT		0.522	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			8	20	1	0	1.06961e-07	1	1.32323e-07	8	20					T	119948345	G	T	119948345	3	4	221	1	0	0	0	0	1	0	0	0	15454	1029	36	4	831	4	SYNPO2	4	119948345	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		119948345	71205931	22	27477											
TMEM144	55314	broad.mit.edu	37	chr4	159138562	159138562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgccttaactggctggGcaagctcaaggtaattcaag	10	8	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:159138562G>A	ENST00000296529.6	+	5	842	c.322G>A	c.(322-324)Gca>Aca	p.A108T	TMEM144_ENST00000514558.1_Missense_Mutation_p.A108T	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	108						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AACTGGCTGGGCAAGCTCAAG	0.383																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(322-324)Gca>Aca		transmembrane protein 144							101	97	99					4																	159138562		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159138562G>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.322G>A	4.37:g.159138562G>A	ENSP00000296529:p.Ala108Thr					TMEM144_ENST00000296529.6_Missense_Mutation_p.A108T	p.A108T			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	4	2118	+	all_hematologic(180;0.24)	Renal(120;0.0854)	108					D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.322G>A	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467386	0.63625	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558;ENST00000503200	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.81	4.97	0.65823	.	0.101480	0.64402	N	0.000002	T	0.61375	0.2342	M	0.87682	2.9	0.80722	D	1	B	0.24043	0.096	B	0.31946	0.138	T	0.61103	-0.7130	9	.	.	.	-31.1668	13.8347	0.63402	0.0744:0.0:0.9256:0.0	.	108	Q7Z5S9	TM144_HUMAN	T	108	ENSP00000422297:A108T;ENSP00000296529:A108T;ENSP00000422082:A108T;ENSP00000426211:A108T;ENSP00000420990:A108T	.	A	+	1	0	TMEM144	159358012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.365000	0.66116	1.468000	0.48064	0.655000	0.94253	GCA		0.383	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		3	31	0	0	0	1	0	3	31					A	159138562	G	A	159138562	3	1	221	1	0	0	0	0	1	0	0	0	16055	1203	42	2	332	2	TMEM144	4	159138562	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	39190217	159138562	32015714	23	27478											
IL7R	3575	broad.mit.edu	37	chr5	35871310	35871310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaggatgaaaacaaaTggacggtatgtagttcaact	11	4	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:35871310T>C	ENST00000303115.3	+	4	661	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	178	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAAAACAAATGGACGGTATG	0.358			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"Mis, O"	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"ALL, ETP ALL"		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(532-534)Tgg>Cgg		interleukin 7 receptor							65	65	65					5																	35871310		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871310T>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.532T>C	5.37:g.35871310T>C	ENSP00000306157:p.Trp178Arg					IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	661	+	all_lung(31;0.00015)		178			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.532T>C	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270558	0.59540	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.58652	0.32;0.32;0.32	5.41	5.41	0.78517	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.281455	0.36893	N	0.002348	T	0.72350	0.3449	M	0.68952	2.095	0.51012	D	0.999908	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.73824	-0.3861	10	0.51188	T	0.08	-5.5901	11.8361	0.52325	0.0:0.0:0.0:1.0	.	178;178	D6RGV2;P16871	.;IL7RA_HUMAN	R	178	ENSP00000306157:W178R;ENSP00000345819:W178R;ENSP00000421207:W178R	ENSP00000306157:W178R	W	+	1	0	IL7R	35907067	0.979000	0.34478	0.832000	0.32986	0.753000	0.42808	2.536000	0.45693	2.052000	0.61016	0.533000	0.62120	TGG		0.358	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			8	9	0	0	0	1	0	8	9					C	35871310	T	C	35871310	3	2	221	1	0	0	0	0	1	0	0	0	7705	1464	51	3	546	3	IL7R	5	35871310	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		35871310	145043950	24	27479											
MCC	4163	broad.mit.edu	37	chr5	112406798	112406798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgtgcctacctgtactGcaaggccagcctcagcgctg	12	13	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112406798G>C	ENST00000302475.4	-	10	1911	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000408903.3_Missense_Mutation_p.Q640E	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	450					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)		TACCTGTACTGCAAGGCCAGC	0.478																																						ENST00000302475.4																			0				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						c.(1348-1350)Cag>Gag		mutated in colorectal cancers							209	165	180					5																	112406798		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112406798G>C		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.1348C>G	5.37:g.112406798G>C	ENSP00000305617:p.Gln450Glu					MCC_ENST00000408903.3_Missense_Mutation_p.Q640E|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000514701.3_5'UTR	p.Q450E	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		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)	10	1911	-		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)	450					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1348C>G	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491994	0.26774	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.52295	0.67;0.67;0.67	5.15	5.15	0.70609	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	L	0.31578	0.945	0.58432	D	0.999997	P;P;D	0.53885	0.843;0.811;0.963	P;P;P	0.58928	0.848;0.83;0.736	T	0.31861	-0.9928	10	0.02654	T	1	-30.397	18.9856	0.92767	0.0:0.0:1.0:0.0	.	450;640;450	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	E	450;387;640	ENSP00000305617:Q450E;ENSP00000421615:Q387E;ENSP00000386227:Q640E	ENSP00000305617:Q450E	Q	-	1	0	MCC	112434697	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.786000	0.85741	2.567000	0.86603	0.591000	0.81541	CAG		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		28	58	0	0	0	1	0	28	58					C	112406798	G	C	112406798	3	2	221	1	0	0	0	0	1	0	0	0	9373	1328	46	4	1173	4	MCC	5	112406798	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	76535488	112406798	68508462	25	27480											
YTHDC2	64848	broad.mit.edu	37	chr5	112868625	112868625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaatggtatcccctgccGtatattttgtactcaaccaa	5	10	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112868625G>A	ENST00000161863.4	+	5	938	c.725G>A	c.(724-726)cGt>cAt	p.R242H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	242	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		ATCCCCTGCCGTATATTTTGT	0.388																																						ENST00000161863.4																			0				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						c.(724-726)cGt>cAt		YTH domain containing 2							106	114	111					5																	112868625		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112868625G>A	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.725G>A	5.37:g.112868625G>A	ENSP00000161863:p.Arg242His					YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		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)	5	938	+		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)	242			Helicase ATP-binding.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.725G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647976	0.87958	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.16897	2.31;2.31	5.63	5.63	0.86233	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.108357	0.64402	D	0.000009	T	0.43700	0.1259	M	0.83312	2.635	0.80722	D	1	D	0.65815	0.995	P	0.59424	0.857	T	0.43475	-0.9389	10	0.72032	D	0.01	.	17.8584	0.88773	0.0:0.0:1.0:0.0	.	242	Q9H6S0	YTDC2_HUMAN	H	242;242;152	ENSP00000161863:R242H;ENSP00000423101:R242H	ENSP00000161863:R242H	R	+	2	0	YTHDC2	112896524	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.774000	0.98992	2.656000	0.90262	0.460000	0.39030	CGT		0.388	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		5	43	0	0	0	1	0	5	43					A	112868625	G	A	112868625	3	1	221	1	0	0	0	0	1	0	0	0	17494	1145	40	1	743	1	YTHDC2	5	112868625	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	461827	112868625	68046635	26	27481											
SLC36A2	153201	broad.mit.edu	37	chr5	150714964	150714964	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatggagaagatggtcaAgatcctgaggttccggatga	14	7	1	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:150714964A>G	ENST00000335244.4	-	6	799	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	SLC36A2_ENST00000521967.1_Silent_p.L224L|SLC36A2_ENST00000450886.1_5'Flank	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	224					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)	AAGATGGTCAAGATCCTGAGG	0.552																																						ENST00000335244.4																			0				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						c.(670-672)Ttg>Ctg		solute carrier family 36 (proton/amino acid symporter), member 2							179	159	166					5																	150714964		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150714964A>G	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.670T>C	5.37:g.150714964A>G						SLC36A2_ENST00000521967.1_Silent_p.L224L	p.L224L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	799	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	224					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.670T>C	CCDS4315.1																																																																																				0.552	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			9	15	0	0	0	1	0	9	15					G	150714964	A	G	150714964	2	3	221	1	0	0	0	0	0	0	0	1	14594	69	3	3		3	SLC36A2	5	150714964	Silent	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	37846339	150714964	30200296	27	27482											
DDX41	51428	broad.mit.edu	37	chr5	176938907	176938907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatgacccaggcccccgCagaaggcacagccgcgctct	11	18	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:176938907C>T	ENST00000507955.1	-	17	2277	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	585					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)			CAGGCCCCCGCAGAAGGCACA	0.642																																						ENST00000507955.1																			0											c.(1753-1755)tGc>tAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							58	59	58					5																	176938907		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176938907C>T	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.1754G>A	5.37:g.176938907C>T	ENSP00000422753:p.Cys585Tyr						p.C585Y	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		17	2277	-	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)	585					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1754G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006034	0.93287	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.97186	-4.28;-4.28	5.89	5.89	0.94794	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.72032	D	0.01	-33.5677	20.2285	0.98347	0.0:1.0:0.0:0.0	.	585	Q9UJV9	DDX41_HUMAN	Y	603;585	ENSP00000330349:C603Y;ENSP00000422753:C585Y	ENSP00000330349:C603Y	C	-	2	0	DDX41	176871513	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.306000	0.78905	2.784000	0.95788	0.655000	0.94253	TGC		0.642	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		13	29	0	0	0	1	0	13	29					T	176938907	C	T	176938907	3	4	221	1	0	0	0	0	1	0	0	0	4361	710	25	2	118	2	DDX41	5	176938907	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	26223943	176938907	3976353	28	27483											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410365	32410365	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcttgaagaatttggaCgatttgccagctttgaggct	14	7	0	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:32410365C>T	ENST00000374982.5	+	2	296	c.223C>T	c.(223-225)Cga>Tga	p.R75*	HLA-DRA_ENST00000395388.2_Nonsense_Mutation_p.R75*			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	75	Alpha-1.			R -> P (in Ref. 12; AA sequence). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|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)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|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 protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AGAATTTGGACGATTTGCCAG	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(223-225)Cga>Tga		major histocompatibility complex, class II, DR alpha							161	159	160					6																	32410365		1511	2709	4220	SO:0001587	stop_gained	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410365C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.223C>T	6.37:g.32410365C>T	ENSP00000364121:p.Arg75*					HLA-DRA_ENST00000374982.5_Nonsense_Mutation_p.R75*	p.R75*	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			2	332	+			75	R -> P (in Ref. 12; AA sequence).		Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Nonsense_Mutation	SNP	ENST00000374982.5	37	c.223C>T		.	.	.	.	.	.	.	.	.	.	.	13.84	2.358021	0.41801	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	.	.	.	5.38	-1.54	0.08584	.	0.986535	0.08266	N	0.972187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	4.4967	0.11840	0.5384:0.2612:0.122:0.0784	.	.	.	.	X	75	.	ENSP00000364121:R75X	R	+	1	2	HLA-DRA	32518343	0.000000	0.05858	0.001000	0.08648	0.182000	0.23217	-0.347000	0.07750	-0.118000	0.11851	-0.171000	0.13296	CGA		0.468	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		28	165	0	0	0	1	0	28	165					T	32410365	C	T	32410365	4	4	221	1	0	0	0	0	0	1	0	0	7207	528	19	1	229	1	HLA-DRA	6	32410365	Nonsense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		32410365	138704702	29	27484											
ITPR3	3710	broad.mit.edu	37	chr6	33625772	33625772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtgcatggggatgtcGtgaagtatggcagtgtgatc	17	4	0	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:33625772G>A	ENST00000374316.5	+	5	1406	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	116	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	TGGGGATGTCGTGAAGTATGG	0.607																																						ENST00000374316.5																			0				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						c.(346-348)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							279	181	214					6																	33625772		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33625772G>A	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.346G>A	6.37:g.33625772G>A	ENSP00000363435:p.Val116Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M	p.V116M			Q14573	ITPR3_HUMAN			5	1406	+			116			MIR 1.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.346G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168249	0.57476	.	.	ENSG00000096433	ENST00000374316	D	0.99051	-5.37	5.26	5.26	0.73747	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.227166	0.36628	N	0.002495	D	0.99287	0.9751	M	0.90759	3.145	0.40256	D	0.978129	D	0.89917	1.0	D	0.70935	0.971	D	0.99201	1.0873	10	0.87932	D	0	-37.7215	12.3948	0.55378	0.0761:0.0:0.9239:0.0	.	116	Q14573	ITPR3_HUMAN	M	116	ENSP00000363435:V116M	ENSP00000363435:V116M	V	+	1	0	ITPR3	33733750	0.998000	0.40836	0.910000	0.35882	0.403000	0.30841	2.751000	0.47508	2.733000	0.93635	0.655000	0.94253	GTG		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	28	0	0	0	1	0	6	28					A	33625772	G	A	33625772	3	1	221	1	0	0	0	0	1	0	0	0	7922	1145	40	1	360	1	ITPR3	6	33625772	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	1215407	33625772	137489295	30	27485											
TINAG	27283	broad.mit.edu	37	chr6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaagatggttttaaatttCgccttggcactttgccacct	8	9	0	2	rs115438249	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																						ENST00000259782.4																			1	Substitution - Missense(1)	p.R191C(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(571-573)Cgc>Tgc		tubulointerstitial nephritis antigen		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139	126	131		571	5.8	1	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191661C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys					TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	p.R191C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	667	+	Lung NSC(77;0.0518)		191					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.571C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		23	82	0	0	0	1	0	23	82					T	54191661	C	T	54191661	3	4	221	1	0	0	0	0	1	0	0	0	15918	884	31	1	585	1	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	20565889	54191661	116923406	31	27486											
COL21A1	81578	broad.mit.edu	37	chr6	56006596	56006596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttaccttgtcaccatctCgccctggttctcctttgtaa	6	13	3	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:56006596C>T	ENST00000244728.5	-	12	1926	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	510	Collagen-like 2.				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)			GTCACCATCTCGCCCTGGTTC	0.368																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1528-1530)cGa>cAa		collagen, type XXI, alpha 1							171	156	161					6																	56006596		1923	4140	6063	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006596C>T	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.1529G>A	6.37:g.56006596C>T	ENSP00000244728:p.Arg510Gln					COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q	p.R510Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1926	-	Lung NSC(77;0.0483)		510					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1529G>A	CCDS55025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.93|13.93	2.384253|2.384253	0.42308|0.42308	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000456983|ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.|T;T;T	.|0.16597	.|2.33;2.33;2.33	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.205916	.|0.32987	.|N	.|0.005404	T|T	0.03011|0.03011	0.0089|0.0089	N|N	0.05078|0.05078	-0.115|-0.115	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30937	.|0.301;0.282	.|B;B	.|0.23018	.|0.043;0.023	T|T	0.41052|0.41052	-0.9530|-0.9530	5|10	.|0.14252	.|T	.|0.57	.|.	14.4967|14.4967	0.67694|0.67694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|507;510	.|Q96P44-3;Q96P44	.|.;COLA1_HUMAN	K|Q	74|510;507;510;507	.|ENSP00000244728:R510Q;ENSP00000359855:R507Q;ENSP00000444384:R510Q	.|ENSP00000244728:R510Q	E|R	-|-	1|2	0|0	COL21A1|COL21A1	56114555|56114555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.957000|1.957000	0.40392|0.40392	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.368	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			35	30	0	0	0	1	0	35	30					T	56006596	C	T	56006596	3	4	221	1	0	0	0	0	1	0	0	0	3680	884	31	1	1420	1	COL21A1	6	56006596	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1814935	56006596	115108471	32	27487											
ZBTB24	9841	broad.mit.edu	37	chr6	109787072	109787072	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctctgctcctggccAagtggcgttggctggggcac	16	12	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:109787072A>T	ENST00000230122.3	-	7	2243	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	692					hematopoietic progenitor cell differentiation (GO:0002244)|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)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCTCCTGGCCAAGTGGCGTTG	0.537																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(2074-2076)ctT>ctA		zinc finger and BTB domain containing 24							108	106	107					6																	109787072		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787072A>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	21143	protein-coding gene	gene with protein product	"POZ (BTB) and AT hook containing zinc finger 2"	614064	"zinc finger protein 450"	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2076T>A	6.37:g.109787072A>T						MICAL1_ENST00000368952.4_5'UTR	p.L692L	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2243	-		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)	692					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.2076T>A	CCDS34509.1																																																																																				0.537	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		35	38	0	0	0	1	0	35	38					T	109787072	A	T	109787072	2	4	221	1	0	0	0	0	0	0	0	1	17528	117	5	5		5	ZBTB24	6	109787072	Silent	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	53780476	109787072	61327995	33	27488											
ADAM9	8754	broad.mit.edu	37	chr8	38934858	38934858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaaatgttggggtgtGgatttccagctaggatcaga	14	7	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:38934858G>A	ENST00000487273.2	+	16	1887	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	603	Cys-rich.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTTGGGGTGTGGATTTCCAGC	0.413																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1807-1809)gtG>gtA		ADAM metallopeptidase domain 9							105	98	100					8																	38934858		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38934858G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1809G>A	8.37:g.38934858G>A						ADAM9_ENST00000484143.1_3'UTR	p.V603V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		16	1887	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	603			Cys-rich.		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.1809G>A	CCDS6112.1																																																																																				0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			16	53	0	0	0	1	0	16	53					A	38934858	G	A	38934858	2	1	221	1	0	0	0	0	0	0	0	1	253	1335	47	2		2	ADAM9	8	38934858	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		38934858	107429164	34	27489											
PKHD1L1	93035	broad.mit.edu	37	chr8	110418625	110418625	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccttgaatgacctctggtcTataaaaccggacacagttca	8	11	3	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110418625T>A	ENST00000378402.5	+	17	1835	c.1731T>A	c.(1729-1731)tcT>tcA	p.S577S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	577					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)			ACCTCTGGTCTATAAAACCGG	0.363										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(1729-1731)tcT>tcA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							60	54	56					8																	110418625		1855	4100	5955	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110418625T>A	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.1731T>A	8.37:g.110418625T>A		HNSCC(38;0.096)					p.S577S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		17	1835	+			577					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.1731T>A	CCDS47911.1																																																																																				0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	5	0	0	0	1	0	3	5					A	110418625	T	A	110418625	2	1	221	1	0	0	0	0	0	0	0	1	11972	1509	53	5		5	PKHD1L1	8	110418625	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	71483767	110418625	35945397	35	27490											
PKHD1L1	93035	broad.mit.edu	37	chr8	110498956	110498956	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atactgagtaggaacatcaaAatagttggtgaagattaccc	9	6	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110498956A>T	ENST00000378402.5	+	59	9890	c.9786A>T	c.(9784-9786)aaA>aaT	p.K3262N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3262					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)			GGAACATCAAAATAGTTGGTG	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(9784-9786)aaA>aaT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							209	209	209					8																	110498956		1951	4128	6079	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110498956A>T	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.9786A>T	8.37:g.110498956A>T	ENSP00000367655:p.Lys3262Asn	HNSCC(38;0.096)					p.K3262N	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9890	+			3262					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9786A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489415	0.64074	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80123	-1.34;-1.34	5.42	5.42	0.78866	Pectin lyase fold/virulence factor (1);	0.120805	0.53938	D	0.000049	D	0.86426	0.5930	M	0.80183	2.485	0.26229	N	0.979049	D	0.63046	0.992	P	0.59487	0.858	T	0.80527	-0.1343	10	0.46703	T	0.11	.	8.2996	0.32006	0.9115:0.0:0.0885:0.0	.	3262	Q86WI1	PKHL1_HUMAN	N	3262;190	ENSP00000367655:K3262N;ENSP00000437376:K190N	ENSP00000367655:K3262N	K	+	3	2	PKHD1L1	110568132	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.381000	0.59587	2.184000	0.69523	0.460000	0.39030	AAA		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	153	0	0	0	1	0	14	153					T	110498956	A	T	110498956	3	4	221	1	0	0	0	0	1	0	0	0	11972	11	1	5	10020	5	PKHD1L1	8	110498956	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	80331	110498956	35865066	36	27491											
KCNQ3	3786	broad.mit.edu	37	chr8	133198389	133198389	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatactccttgaatgtggtCaggacagccagaatcaagca	9	10	3	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:133198389C>A	ENST00000388996.4	-	2	846	c.426G>T	c.(424-426)ctG>ctT	p.L142L	KCNQ3_ENST00000521134.1_Silent_p.L22L|KCNQ3_ENST00000519445.1_Silent_p.L142L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	142					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGAATGTGGTCAGGACAGCCA	0.483																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(424-426)ctG>ctT		potassium voltage-gated channel, KQT-like subfamily, member 3							112	99	103					8																	133198389		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133198389C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.426G>T	8.37:g.133198389C>A						KCNQ3_ENST00000519445.1_Silent_p.L142L|KCNQ3_ENST00000521134.1_Silent_p.L22L	p.L142L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	846	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		142					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.426G>T	CCDS34943.1																																																																																				0.483	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		6	31	1	0	3.59834e-05	1	4.15193e-05	6	31					A	133198389	C	A	133198389	2	1	221	1	0	0	0	0	0	0	0	1	8084	813	29	4		4	KCNQ3	8	133198389	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	22699433	133198389	13165633	37	27492											
FAM75C1	441452	broad.mit.edu	37	chr9	90535202	90535202	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaaaaaggtgactttgGtcagctctctggtccagacc	10	11	2	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:90535202G>T	ENST00000602681.1	+	0	1106							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTGACTTTGGTCAGCTCTCT	0.602																																						ENST00000602681.1																			0																				52	62	59					9																	90535202		692	1589	2281			0							g.chr9:90535202G>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535202G>T														0	1106	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.602	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		11	65	1	0	3.41278e-10	1	4.26598e-10	11	65					T	90535202	G	T	90535202	1	4	221	0	1	0	0	0	0	0	0	0	5623	1261	44	4		4	FAM75C1	9	90535202	RNA	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		90535202	50678229	38	27493											
PTPDC1	138639	broad.mit.edu	37	chr9	96859752	96859752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtttctaactcctctcCgcaatatattctcttgctgt	4	13	4	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:96859752C>T	ENST00000375360.3	+	7	1082	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	248					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						AACTCCTCTCCGCAATATATT	0.453																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(742-744)Cgc>Tgc		protein tyrosine phosphatase domain containing 1							117	112	114					9																	96859752		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859752C>T	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.742C>T	9.37:g.96859752C>T	ENSP00000364509:p.Arg248Cys					PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	p.R248C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1082	+			248					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.742C>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509046	0.64410	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.15487	2.43;2.42	5.55	5.55	0.83447	.	0.048354	0.85682	D	0.000000	T	0.43077	0.1231	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.965;0.985;0.973;0.977	T	0.28170	-1.0052	10	0.54805	T	0.06	-17.2795	14.9826	0.71321	0.1428:0.8572:0.0:0.0	.	302;300;302;248	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	C	248;300	ENSP00000364509:R248C;ENSP00000288976:R300C	ENSP00000288976:R300C	R	+	1	0	PTPDC1	95899573	0.511000	0.26179	1.000000	0.80357	0.998000	0.95712	0.874000	0.28065	2.610000	0.88304	0.591000	0.81541	CGC		0.453	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		22	126	0	0	0	1	0	22	126					T	96859752	C	T	96859752	3	4	221	1	0	0	0	0	1	0	0	0	12773	652	23	1	1006	1	PTPDC1	9	96859752	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	6324550	96859752	44353679	39	27494											
CAMSAP1	157922	broad.mit.edu	37	chr9	138710933	138710933	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcggccttgcgctgCtgcttcaggaggaaggccgc	14	15	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:138710933C>G	ENST00000389532.4	-	12	3946	c.3882G>C	c.(3880-3882)caG>caC	p.Q1294H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1294					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)		CCTTGCGCTGCTGCTTCAGGA	0.647																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3880-3882)caG>caC		calmodulin regulated spectrin-associated protein 1							23	21	22					9																	138710933		2201	4297	6498	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710933C>G	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.3882G>C	9.37:g.138710933C>G	ENSP00000374183:p.Gln1294His					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H|CAMSAP1_ENST00000483991.1_5'UTR	p.Q1294H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	12	3946	-			1294					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3882G>C	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405895	0.83230	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.18960	2.2;2.18;2.2	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.991	T	0.62525	-0.6836	10	0.87932	D	0	-2.7359	17.5811	0.87968	0.0:1.0:0.0:0.0	.	1294;1305	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	H	1294;1016;1305	ENSP00000374183:Q1294H;ENSP00000312463:Q1016H;ENSP00000386420:Q1305H	ENSP00000312463:Q1016H	Q	-	3	2	CAMSAP1	137850754	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.160000	0.31761	2.204000	0.70986	0.561000	0.74099	CAG		0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	16	0	0	0	1	0	7	16					G	138710933	C	G	138710933	3	3	221	1	0	0	0	0	1	0	0	0	2611	796	28	4	950	4	CAMSAP1	9	138710933	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	41851181	138710933	2502498	40	27495											
KIAA1217	56243	broad.mit.edu	37	chr10	24508622	24508622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcagaaccaaggaacgCctttctaatggaaacagtcg	10	11	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:24508622C>T	ENST00000376454.3	+	2	168	c.138C>T	c.(136-138)cgC>cgT	p.R46R	KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Silent_p.R46R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	46					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						CCAAGGAACGCCTTTCTAATG	0.463																																						ENST00000376454.3																			0				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						c.(136-138)cgC>cgT		KIAA1217							73	67	69					10																	24508622		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508622C>T	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.138C>T	10.37:g.24508622C>T						KIAA1217_ENST00000376452.3_Silent_p.R46R|KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376462.1_5'UTR	p.R46R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	168	+			46					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.138C>T	CCDS31165.1																																																																																				0.463	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	31	0	0	0	1	0	8	31					T	24508622	C	T	24508622	2	4	221	1	0	0	0	0	0	0	0	1	8216	726	26	2		2	KIAA1217	10	24508622	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		24508622	111026125	41	27496											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508105	37508105	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accctaaaactgaaagaggaAtcattaactaaaagggcatc	7	8	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508105A>T	ENST00000602533.1	+	34	3396	c.3297A>T	c.(3295-3297)gaA>gaT	p.E1099D	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1218D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1155					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGAGGAATCATTAACTA	0.338																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3652-3654)gaA>gaT		ankyrin repeat domain 30A							135	135	135					10																	37508105		1824	4071	5895	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508105A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3297A>T	10.37:g.37508105A>T	ENSP00000473551:p.Glu1099Asp					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1099D	p.E1218D			Q9BXX3	AN30A_HUMAN			40	3753	+			1170					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3654A>T		.	.	.	.	.	.	.	.	.	.	a	5.104	0.204849	0.09704	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06768	3.26;3.26	2.81	1.59	0.23543	.	.	.	.	.	T	0.08802	0.0218	L	0.59967	1.855	0.09310	N	0.999998	P	0.41232	0.743	B	0.38056	0.264	T	0.22941	-1.0202	9	0.46703	T	0.11	.	6.1403	0.20257	0.8588:0.0:0.1412:0.0	.	1155	Q9BXX3	AN30A_HUMAN	D	1099;1218	ENSP00000354432:E1099D;ENSP00000363792:E1218D	ENSP00000354432:E1099D	E	+	3	2	ANKRD30A	37548111	0.996000	0.38824	0.013000	0.15412	0.004000	0.04260	1.963000	0.40452	1.151000	0.42436	0.381000	0.24937	GAA		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		34	173	0	0	0	1	0	34	173					T	37508105	A	T	37508105	3	4	221	1	0	0	0	0	1	0	0	0	658	98	4	5	3431	5	ANKRD30A	10	37508105	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	12999483	37508105	98026642	42	27497											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508389	37508389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atataacaatgaggtgctccAtcaaccactttctgaagctc	6	11	2	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508389A>G	ENST00000602533.1	+	34	3680	c.3581A>G	c.(3580-3582)cAt>cGt	p.H1194R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H1313R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1250					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGTGCTCCATCAACCACTT	0.358																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3937-3939)cAt>cGt		ankyrin repeat domain 30A							58	52	54					10																	37508389		1850	4080	5930	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508389A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3581A>G	10.37:g.37508389A>G	ENSP00000473551:p.His1194Arg					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1194R	p.H1313R			Q9BXX3	AN30A_HUMAN			40	4037	+			1250					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3938A>G		.	.	.	.	.	.	.	.	.	.	a	0.665	-0.804305	0.02819	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13420	2.59;2.59	2.91	0.953	0.19590	.	.	.	.	.	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	B	0.31077	0.307	B	0.31191	0.125	T	0.27088	-1.0084	9	0.59425	D	0.04	.	4.6346	0.12518	0.2259:0.6436:0.0:0.1305	.	1250	Q9BXX3	AN30A_HUMAN	R	1194;1313	ENSP00000354432:H1194R;ENSP00000363792:H1313R	ENSP00000354432:H1194R	H	+	2	0	ANKRD30A	37548395	0.997000	0.39634	0.001000	0.08648	0.002000	0.02628	1.513000	0.35823	0.008000	0.14787	-0.750000	0.03501	CAT		0.358	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	30	0	0	0	1	0	7	30					G	37508389	A	G	37508389	3	3	221	1	0	0	0	0	1	0	0	0	658	217	8	3	3715	3	ANKRD30A	10	37508389	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	284	37508389	98026358	43	27498											
OGDHL	55753	broad.mit.edu	37	chr10	50950920	50950920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgagccgcacgtggaTgccttccttcagcagggagc	13	15	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:50950920T>C	ENST00000374103.4	-	15	2051	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	656					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						CGCACGTGGATGCCTTCCTTC	0.642																																						ENST00000374103.4																			0				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						c.(1966-1968)Atc>Gtc		oxoglutarate dehydrogenase-like							89	65	73					10																	50950920		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50950920T>C	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.1966A>G	10.37:g.50950920T>C	ENSP00000363216:p.Ile656Val					OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	p.I656V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			15	2051	-			656					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1966A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	t	11.50	1.656584	0.29425	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91464	-2.85;-2.85;-2.85	5.22	5.22	0.72569	Transketolase-like, pyrimidine-binding domain (2);	0.111469	0.64402	D	0.000013	D	0.83834	0.5340	N	0.20986	0.625	0.41709	D	0.989445	B;B;B	0.13594	0.008;0.004;0.001	B;B;B	0.17098	0.017;0.012;0.012	T	0.79095	-0.1944	10	0.18276	T	0.48	.	15.4022	0.74849	0.0:0.0:0.0:1.0	.	599;447;656	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	V	656;599;447	ENSP00000363216:I656V;ENSP00000401356:I599V;ENSP00000390240:I447V	ENSP00000363216:I656V	I	-	1	0	OGDHL	50620926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.481000	0.53179	2.089000	0.63090	0.529000	0.55759	ATC		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	35	0	0	0	1	0	4	35					C	50950920	T	C	50950920	3	2	221	1	0	0	0	0	1	0	0	0	10840	1464	51	3	1102	3	OGDHL	10	50950920	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	13442531	50950920	84583827	44	27499											
PLCE1	51196	broad.mit.edu	37	chr10	96018841	96018841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcaaccgatctggctccGagtcagccccactctacacc	7	19	3	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:96018841G>A	ENST00000371380.3	+	12	3983	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1250K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					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)	p.E942*(1)|p.E1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTGGCTCCGAGTCAGCCCC	0.483																																						ENST00000260766.3																			2	Substitution - Nonsense(2)	p.E942*(1)|p.E1250*(1)	lung(2)	liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3748-3750)Gag>Aag		phospholipase C, epsilon 1							159	158	158					10																	96018841		2020	4190	6210	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018841G>A		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.3748G>A	10.37:g.96018841G>A	ENSP00000360431:p.Glu1250Lys					PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1250K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K	p.E1250K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			13	4382	+		Colorectal(252;0.0458)	1250					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3748G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655770	0.47467	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25085	1.82;1.82;1.84;1.84	5.77	4.86	0.63082	.	0.060426	0.64402	D	0.000004	T	0.27967	0.0689	L	0.36672	1.1	0.42504	D	0.992945	D;D;B	0.61080	0.981;0.989;0.237	P;P;B	0.47981	0.454;0.563;0.03	T	0.02567	-1.1140	10	0.42905	T	0.14	.	15.0802	0.72108	0.0682:0.0:0.9318:0.0	.	1234;942;1250	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	K	1250;1250;942;942	ENSP00000260766:E1250K;ENSP00000360431:E1250K;ENSP00000360438:E942K;ENSP00000360426:E942K	ENSP00000260766:E1250K	E	+	1	0	PLCE1	96008831	1.000000	0.71417	0.141000	0.22245	0.074000	0.17049	7.979000	0.88103	1.449000	0.47699	0.555000	0.69702	GAG		0.483	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		21	77	0	0	0	1	0	21	77					A	96018841	G	A	96018841	3	1	221	1	0	0	0	0	1	0	0	0	12034	1059	37	1	4080	1	PLCE1	10	96018841	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	45067921	96018841	39515906	45	27500											
C10orf137	26098	broad.mit.edu	37	chr10	127434378	127434378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaattgaggatgccaccaAtgccgcccttttattatgta	7	10	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:127434378A>G	ENST00000356792.4	+	19	2925	c.2693A>G	c.(2692-2694)aAt>aGt	p.N898S	RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.N864S|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		898					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGCCACCAATGCCGCCCTT	0.453																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2590-2592)aAt>aGt		chromosome 10 open reading frame 137							109	107	108					10																	127434378		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127434378A>G																												ENST00000356792.4:c.2693A>G	10.37:g.127434378A>G	ENSP00000349244:p.Asn898Ser					RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.N898S|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	p.N864S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			18	2696	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	898					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2591A>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881627	0.72294	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.75367	-0.93;-0.93	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.994;0.998;0.987	D	0.87157	0.2212	10	0.87932	D	0	.	15.8023	0.78463	1.0:0.0:0.0:0.0	.	898;245;864	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	S	898;864	ENSP00000349244:N898S;ENSP00000336727:N864S	ENSP00000336727:N864S	N	+	2	0	C10orf137	127424368	1.000000	0.71417	0.956000	0.39512	0.463000	0.32649	8.962000	0.93254	2.137000	0.66172	0.533000	0.62120	AAT		0.453	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			9	54	0	0	0	1	0	9	54					G	127434378	A	G	127434378	3	3	221	1	0	0	0	0	1	0	0	0	1594	101	4	3	2661	3	C10orf137	10	127434378	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	31415537	127434378	8100369	46	27501											
MUC2	4583	broad.mit.edu	37	chr11	1081657	1081657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccctcaggcctctgcGggaacttcaacggcctggaa	12	15	3	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:1081657G>A	ENST00000441003.2	+	13	1612	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	529	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)	AGGCCTCTGCGGGAACTTCAA	0.667																																						ENST00000441003.2																			0				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						c.(1585-1587)Ggg>Agg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						19	22	21					11																	1081657		1867	4091	5958	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081657G>A	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.1585G>A	11.37:g.1081657G>A	ENSP00000415183:p.Gly529Arg					MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1612	+		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)	529			VWFD 2.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1585G>A		.	.	.	.	.	.	.	.	.	.	G	9.506	1.104606	0.20632	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	D;D	0.90563	-2.69;-2.69	3.16	2.23	0.28157	.	0.000000	0.64402	U	0.000014	D	0.96454	0.8843	H	0.96833	3.89	0.40487	D	0.980509	D	0.89917	1.0	D	0.97110	1.0	D	0.96349	0.9257	10	0.87932	D	0	.	11.4267	0.50015	0.0:0.0:0.8182:0.1818	.	529	E7EUV1	.	R	529	ENSP00000415183:G529R;ENSP00000351956:G529R	ENSP00000351956:G529R	G	+	1	0	MUC2	1071657	1.000000	0.71417	0.141000	0.22245	0.001000	0.01503	7.682000	0.84083	0.529000	0.28599	-0.310000	0.09108	GGG		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	18	0	0	0	1	0	3	18					A	1081657	G	A	1081657	3	1	221	1	0	0	0	0	1	0	0	0	9975	1116	39	1	1635	1	MUC2	11	1081657	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		1081657	133924859	47	27502											
OR51B5	282763	broad.mit.edu	37	chr11	5364717	5364717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagcctggaaaaccaGtcaataggaagggatgggag	13	9	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:5364717G>A	ENST00000300773.2	-	1	92	c.38C>T	c.(37-39)aCt>aTt	p.T13I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	13					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(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAAACCAGTCAATAGGAA	0.443																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(37-39)aCt>aTt		olfactory receptor, family 51, subfamily B, member 5							26	33	31					11																	5364717		2192	4296	6488	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364717G>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.38C>T	11.37:g.5364717G>A	ENSP00000300773:p.Thr13Ile					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.T13I	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	92	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	13					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.38C>T	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209837	0.58343	.	.	ENSG00000242180	ENST00000300773	T	0.00289	8.28	4.78	3.85	0.44370	.	0.415574	0.17737	N	0.163714	T	0.00440	0.0014	L	0.55481	1.735	0.25754	N	0.985027	D	0.67145	0.996	D	0.71414	0.973	T	0.54221	-0.8326	10	0.51188	T	0.08	.	8.2545	0.31746	0.0:0.2826:0.5574:0.1599	.	13	Q9H339	O51B5_HUMAN	I	13	ENSP00000300773:T13I	ENSP00000300773:T13I	T	-	2	0	OR51B5	5321293	0.000000	0.05858	0.999000	0.59377	0.946000	0.59487	-0.156000	0.10100	1.210000	0.43336	0.650000	0.86243	ACT		0.443	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		6	21	0	0	0	1	0	6	21					A	5364717	G	A	5364717	3	1	221	1	0	0	0	0	1	0	0	0	11091	1029	36	2	904	2	OR51B5	11	5364717	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	4283060	5364717	129641799	48	27503											
RBMXL2	27288	broad.mit.edu	37	chr11	7111318	7111318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgcctacagcggcggcCgcgacagttacagcagcagt	13	14	0	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:7111318C>T	ENST00000306904.5	+	1	1154	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	323	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCGGCGGCCGCGACAGTTA	0.682																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(967-969)Cgc>Tgc		RNA binding motif protein, X-linked-like 2							16	18	17					11																	7111318		2176	4252	6428	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111318C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.967C>T	11.37:g.7111318C>T	ENSP00000304139:p.Arg323Cys						p.R323C	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1154	+			323			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.967C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165930	0.78339	.	.	ENSG00000170748	ENST00000306904	T	0.80738	-1.41	3.67	3.67	0.42095	.	0.000000	0.85682	U	0.000000	D	0.87144	0.6104	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86801	0.1992	10	0.44086	T	0.13	.	13.6724	0.62434	0.0:1.0:0.0:0.0	.	323	O75526	HNRGT_HUMAN	C	323	ENSP00000304139:R323C	ENSP00000304139:R323C	R	+	1	0	RBMXL2	7067894	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.478000	0.45189	2.328000	0.79073	0.563000	0.77884	CGC		0.682	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		3	33	0	0	0	1	0	3	33					T	7111318	C	T	7111318	3	4	221	1	0	0	0	0	1	0	0	0	13154	652	23	1	969	1	RBMXL2	11	7111318	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1746601	7111318	127895198	49	27504											
OR4A5	81318	broad.mit.edu	37	chr11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctataaatagctggcccatgCaaccttggaaggaaatagtc	9	9	0	0	rs192882980	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453																																						ENST00000319760.6																			1	Substitution - Missense(1)	p.C95S(1)	stomach(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(283-285)tGc>tTc		olfactory receptor, family 4, subfamily A, member 5							65	67	66					11																	51412112		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412112C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.284G>T	11.37:g.51412112C>A	ENSP00000367664:p.Cys95Phe						p.C95F	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	336	-		all_lung(304;0.236)	95					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.284G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	9.163	1.019311	0.19355	.	.	ENSG00000221840	ENST00000319760	T	0.00547	6.66	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.02083	0.0065	H	0.99117	4.435	0.42167	D	0.991622	P	0.41450	0.75	B	0.43360	0.417	T	0.02893	-1.1097	10	0.87932	D	0	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	95	Q8NH83	OR4A5_HUMAN	F	95	ENSP00000367664:C95F	ENSP00000367664:C95F	C	-	2	0	OR4A5	51268688	1.000000	0.71417	0.029000	0.17559	0.021000	0.10359	4.827000	0.62723	1.394000	0.46624	0.162000	0.16502	TGC		0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		12	56	1	0	9.31168e-06	1	1.10634e-05	12	56					A	51412112	C	A	51412112	3	1	221	1	0	0	0	0	1	0	0	0	11043	710	25	4	667	4	OR4A5	11	51412112	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	44300794	51412112	83594404	50	27505											
CTNND1	1500	broad.mit.edu	37	chr11	57563185	57563185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatgatgggaccactcGgcgcacagagaccacggtaa	12	12	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:57563185G>A	ENST00000399050.4	+	5	940	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000524630.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	135					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)				GGGACCACTCGGCGCACAGAG	0.507																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(403-405)cGg>cAg		catenin (cadherin-associated protein), delta 1							42	46	45					11																	57563185		1939	4137	6076	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57563185G>A	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.404G>A	11.37:g.57563185G>A	ENSP00000382004:p.Arg135Gln					CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000531014.1_Intron	p.R135Q			O60716	CTND1_HUMAN			5	917	+		all_epithelial(135;0.155)	135					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.404G>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970383	0.97156	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000530068;ENST00000534647	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	0.79033	1.5;1.5;1.5;1.5;1.5;-0.9;-0.78;1.5;1.5;1.5;-0.78;-0.78;1.5;-1.08;-0.9;-0.9;-0.9;1.5;-0.78;-1.23;-0.93;-0.93;-0.89;-0.88;-0.78;-0.9;1.5;1.5;1.51	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.76494	0.991;0.991;0.985;0.991;0.991;0.999;0.991;0.985	P;P;P;P;P;D;P;P	0.72338	0.69;0.69;0.493;0.69;0.69;0.977;0.69;0.493	D	0.87005	0.2119	10	0.62326	D	0.03	-5.7294	19.6517	0.95819	0.0:0.0:1.0:0.0	.	135;135;135;81;81;135;135;135	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	Q	135;135;135;135;135;81;34;135;135;135;34;34;135;34;81;81;81;135;34;81;81;81;34;34;34;81;135;81;57	ENSP00000436543:R135Q;ENSP00000434808:R135Q;ENSP00000381996:R135Q;ENSP00000353902:R135Q;ENSP00000354907:R135Q;ENSP00000436323:R81Q;ENSP00000409930:R34Q;ENSP00000382004:R135Q;ENSP00000354785:R135Q;ENSP00000354823:R135Q;ENSP00000432075:R34Q;ENSP00000437156:R34Q;ENSP00000351527:R135Q;ENSP00000434949:R34Q;ENSP00000435379:R81Q;ENSP00000432243:R81Q;ENSP00000436744:R81Q;ENSP00000413586:R135Q;ENSP00000435266:R34Q;ENSP00000435494:R81Q;ENSP00000433276:R81Q;ENSP00000433334:R81Q;ENSP00000437327:R34Q;ENSP00000403518:R34Q;ENSP00000434017:R34Q;ENSP00000435789:R81Q;ENSP00000432041:R135Q;ENSP00000431600:R81Q;ENSP00000434202:R57Q	ENSP00000351527:R135Q	R	+	2	0	CTNND1	57319761	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.642000	0.83385	2.750000	0.94351	0.467000	0.42956	CGG		0.507	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		5	18	0	0	0	1	0	5	18					A	57563185	G	A	57563185	3	1	221	1	0	0	0	0	1	0	0	0	4019	1116	39	1	414	1	CTNND1	11	57563185	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	6151073	57563185	77443331	51	27506											
RTN3	10313	broad.mit.edu	37	chr11	63487398	63487398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtggttttacctgatgAccacctgaaagatgaaatgg	11	6	0	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:63487398A>G	ENST00000377819.5	+	3	1578	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	475					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						TTACCTGATGACCACCTGAAA	0.458																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1423-1425)gAc>gGc		reticulon 3							86	85	85					11																	63487398		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487398A>G	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.1424A>G	11.37:g.63487398A>G	ENSP00000367050:p.Asp475Gly					RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000356000.3_Intron	p.D475G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1578	+			475					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1424A>G	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	A	3.016	-0.202805	0.06219	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.17370	2.28;2.28;2.28	5.5	-0.627	0.11541	.	1.244420	0.05517	N	0.561410	T	0.08935	0.0221	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.14578	0.011;0.005;0.011	T	0.30416	-0.9979	10	0.17832	T	0.49	-0.0117	8.9023	0.35501	0.6649:0.0:0.3351:0.0	.	363;475;456	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	G	475;456;363	ENSP00000367050:D475G;ENSP00000344106:D456G;ENSP00000442733:D363G	ENSP00000344106:D456G	D	+	2	0	RTN3	63243974	0.007000	0.16637	0.227000	0.23927	0.554000	0.35429	-0.119000	0.10676	-0.352000	0.08237	-0.256000	0.11100	GAC		0.458	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		22	43	0	0	0	1	0	22	43					G	63487398	A	G	63487398	3	3	221	1	0	0	0	0	1	0	0	0	13727	275	10	3	1434	3	RTN3	11	63487398	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	5924213	63487398	71519118	52	27507											
FGF6	2251	broad.mit.edu	37	chr12	4543495	4543495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtacaagtctgactcGtaggcattgtaattgttggg	12	7	1	1	rs542608820		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:4543495G>A	ENST00000228837.2	-	3	556	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	171					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|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)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTCTGACTCGTAGGCATTGT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		22865	0.0		0.0	False		,,,				2504	0.001					ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(511-513)taC>taT		fibroblast growth factor 6							231	208	216					12																	4543495		2203	4300	6503	SO:0001819	synonymous_variant	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4543495G>A	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.513C>T	12.37:g.4543495G>A							p.Y171Y	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		3	556	-			171					Q0VAE1	Silent	SNP	ENST00000228837.2	37	c.513C>T	CCDS8527.1																																																																																				0.517	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		34	407	0	0	0	1	0	34	407					A	4543495	G	A	4543495	2	1	221	1	0	0	0	0	0	0	0	1	5856	1140	40	1		1	FGF6	12	4543495	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		4543495	129308400	53	27508											
CD163L1	283316	broad.mit.edu	37	chr12	7521536	7521536	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaagactatacctgaggaGgcattcagtgatttcagcga	11	8	2	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:7521536G>T	ENST00000313599.3	-	16	4122	c.4065C>A	c.(4063-4065)gcC>gcA	p.A1355A	CD163L1_ENST00000416109.2_Silent_p.A1365A|CD163L1_ENST00000396630.1_Silent_p.A1355A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1355						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACCTGAGGAGGCATTCAGTG	0.443																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4063-4065)gcC>gcA		CD163 molecule-like 1							147	134	138					12																	7521536		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7521536G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4065C>A	12.37:g.7521536G>T						CD163L1_ENST00000396630.1_Silent_p.A1355A|CD163L1_ENST00000416109.2_Silent_p.A1365A	p.A1355A			Q9NR16	C163B_HUMAN			16	4122	-			1355					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.4065C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.123106	0.06795	.	.	ENSG00000177675	ENST00000539726	.	.	.	0.421	0.421	0.16451	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.20926	N	0.999824	.	.	.	.	.	.	T	0.28073	-1.0055	3	.	.	.	.	.	.	.	.	.	.	.	I	11	.	.	L	-	1	0	CD163L1	7412803	0.063000	0.20901	0.034000	0.17996	0.122000	0.20287	1.407000	0.34657	0.452000	0.26830	0.455000	0.32223	CTC		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		5	169	1	0	0.217242	1	0.219068	5	169					T	7521536	G	T	7521536	2	4	221	1	0	0	0	0	0	0	0	1	2968	987	35	4		4	CD163L1	12	7521536	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2978041	7521536	126330359	54	27509											
A2M	2	broad.mit.edu	37	chr12	9243855	9243855	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgtgaaggcctctccaCgaatcacagagtaaggcatt	11	9	2	3	rs117138141		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:9243855C>G	ENST00000318602.7	-	19	2718	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	804					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)	GGCCTCTCCACGAATCACAGA	0.493																																						ENST00000318602.7																			0				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						c.(2410-2412)cGt>cCt		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						117	118	118					12																	9243855		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243855C>G	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.2411G>C	12.37:g.9243855C>G	ENSP00000323929:p.Arg804Pro						p.R804P	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			19	2718	-			804					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2411G>C	CCDS44827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.995289|3.995289	0.74703|0.74703	.|.	.|.	ENSG00000175899|ENSG00000175899	ENST00000318602;ENST00000540099|ENST00000543436	T|.	0.30981|.	1.51|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Alpha-2-macroglobulin (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.87212|0.87212	0.6121|0.6121	H|H	0.96604|0.96604	3.85|3.85	0.49051|0.49051	D|D	0.999745|0.999745	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90821|0.90821	0.4709|0.4709	10|5	0.87932|.	D|.	0|.	.|.	13.2561|13.2561	0.60079|0.60079	0.0:0.9211:0.0:0.0789|0.0:0.9211:0.0:0.0789	.|.	804|.	P01023|.	A2MG_HUMAN|.	P|L	804;819|52	ENSP00000323929:R804P|.	ENSP00000323929:R804P|.	R|V	-|-	2|1	0|0	A2M|A2M	9135122|9135122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.657000|0.657000	0.38888|0.38888	7.818000|7.818000	0.86416|0.86416	2.464000|2.464000	0.83262|0.83262	0.557000|0.557000	0.71058|0.71058	CGT|GTG		0.493	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		97	159	0	0	0	1	0	97	159					G	9243855	C	G	9243855	3	3	221	1	0	0	0	0	1	0	0	0	4	536	19	4	2085	4	A2M	12	9243855	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1722319	9243855	124608040	55	27510											
TBC1D4	9882	broad.mit.edu	37	chr13	75884224	75884224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaggaatacaaccagcGgttcctcctccatggttgga	10	12	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr13:75884224G>A	ENST00000377636.3	-	14	2793	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACAACCAGCGGTTCCTCCTC	0.488																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2446-2448)cCg>cTg		TBC1 domain family, member 4							73	67	69					13																	75884224		1874	4099	5973	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75884224G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2447C>T	13.37:g.75884224G>A	ENSP00000366863:p.Pro816Leu					TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L	p.P816L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	14	2793	-		Prostate(6;0.014)|Breast(118;0.0982)	816					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2447C>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889538	0.72524	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.30448	3.91;3.98;3.98;3.66;1.53	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.37128	0.0992	M	0.72894	2.215	0.58432	D	0.999998	B;B;B;P	0.41041	0.375;0.103;0.375;0.736	B;B;B;B	0.36335	0.09;0.035;0.112;0.222	T	0.19614	-1.0300	10	0.39692	T	0.17	-27.4042	20.3409	0.98764	0.0:0.0:1.0:0.0	.	33;753;808;816	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	L	816;808;753;33;265	ENSP00000366863:P816L;ENSP00000395986:P808L;ENSP00000366852:P753L;ENSP00000390654:P33L;ENSP00000396932:P265L	ENSP00000366852:P753L	P	-	2	0	TBC1D4	74782225	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	5.619000	0.67729	2.814000	0.96858	0.655000	0.94253	CCG		0.488	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		11	14	0	0	0	1	0	11	14					A	75884224	G	A	75884224	3	1	221	1	0	0	0	0	1	0	0	0	15619	1116	39	1	1481	1	TBC1D4	13	75884224	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		75884224	39285654	56	27511											
VIPAR	63894	broad.mit.edu	37	chr14	77917578	77917578	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagtaggcttgggtagttGtgcataggaggagaagctgt	17	3	0	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:77917578G>T	ENST00000553888.1	-	4	805	c.295C>A	c.(295-297)Caa>Aaa	p.Q99K	VIPAS39_ENST00000557658.1_Missense_Mutation_p.Q99K|VIPAS39_ENST00000327028.4_Missense_Mutation_p.Q99K|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.Q125K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.Q99K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	99					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											TTGGGTAGTTGTGCATAGGAG	0.473																																						ENST00000553888.1																			0											c.(295-297)Caa>Aaa		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							303	237	259					14																	77917578		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917578G>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.295C>A	14.37:g.77917578G>T	ENSP00000452181:p.Gln99Lys					VIPAS39_ENST00000556412.1_Missense_Mutation_p.Q125K|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000327028.4_Missense_Mutation_p.Q99K|VIPAS39_ENST00000557658.1_Missense_Mutation_p.Q99K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.Q99K	p.Q99K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	805	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.295C>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453135	0.12283	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.49	5.49	0.81192	.	0.499991	0.23446	N	0.048087	T	0.20941	0.0504	N	0.08118	0	0.27438	N	0.953797	B	0.02656	0.0	B	0.09377	0.004	T	0.08534	-1.0717	10	0.06099	T	0.92	-7.1546	13.2672	0.60141	0.0:0.2079:0.7921:0.0	.	99	Q9H9C1	VIPAR_HUMAN	K	99;99;99;99;125	ENSP00000339122:Q99K;ENSP00000452181:Q99K;ENSP00000313098:Q99K;ENSP00000452191:Q99K;ENSP00000451857:Q125K	ENSP00000313098:Q99K	Q	-	1	0	VIPAR	76987331	0.929000	0.31497	0.995000	0.50966	0.984000	0.73092	3.020000	0.49643	2.577000	0.86979	0.563000	0.77884	CAA		0.473	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	141	1	0	0.00024832	1	0.00027338	4	141					T	77917578	G	T	77917578	3	4	221	1	0	0	0	0	1	0	0	0	17165	1386	48	4	1254	4	VIPAR	14	77917578	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		77917578	29431962	57	27512											
RYR3	6263	broad.mit.edu	37	chr15	33955020	33955020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatagtgcggggacagaGgagggagcagaaaaggagga	20	4	0	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:33955020G>A	ENST00000389232.4	+	35	5359	c.5289G>A	c.(5287-5289)gaG>gaA	p.E1763E	RYR3_ENST00000415757.3_Silent_p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1763	4 X approximate repeats.				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)		CGGGGACAGAGGAGGGAGCAG	0.572																																						ENST00000389232.4																			0				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						c.(5287-5289)gaG>gaA		ryanodine receptor 3							149	162	158					15																	33955020		2070	4217	6287	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955020G>A		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.5289G>A	15.37:g.33955020G>A						RYR3_ENST00000415757.3_Silent_p.E1763E	p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5359	+		all_lung(180;7.18e-09)	1763			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5289G>A	CCDS45210.1																																																																																				0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			35	96	0	0	0	1	0	35	96					A	33955020	G	A	33955020	2	1	221	1	0	0	0	0	0	0	0	1	13770	991	35	2		2	RYR3	15	33955020	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		33955020	68576372	58	27513											
LRRK1	79705	broad.mit.edu	37	chr15	101528904	101528904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccagcgagggcacctgGgggttgtgaagctcctggtc	16	11	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:101528904G>A	ENST00000388948.3	+	5	858	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R|LRRK1_ENST00000284395.5_Missense_Mutation_p.G164R	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)			AGGGCACCTGGGGGTTGTGAA	0.622																																						ENST00000284395.5																			0				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						c.(490-492)Ggg>Agg		leucine-rich repeat kinase 1							68	73	71					15																	101528904		2017	4169	6186	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528904G>A	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.499G>A	15.37:g.101528904G>A	ENSP00000373600:p.Gly167Arg					LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R|LRRK1_ENST00000388948.3_Missense_Mutation_p.G167R	p.G164R			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	890	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		167						Missense_Mutation	SNP	ENST00000388948.3	37	c.490G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174264	0.38413	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.63744	-0.06;0.64;-0.06	5.5	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.427431	0.21151	N	0.079327	T	0.52451	0.1735	L	0.37697	1.125	0.26224	N	0.979112	B;P	0.44380	0.175;0.834	B;B	0.40009	0.076;0.316	T	0.48269	-0.9050	10	0.44086	T	0.13	.	13.1729	0.59609	0.0764:0.0:0.9236:0.0	.	167;167	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	R	167;164;167	ENSP00000373600:G167R;ENSP00000284395:G164R;ENSP00000433268:G167R	ENSP00000284395:G164R	G	+	1	0	LRRK1	99346427	1.000000	0.71417	0.869000	0.34112	0.067000	0.16453	6.524000	0.73791	1.332000	0.45431	0.650000	0.86243	GGG		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		20	60	0	0	0	1	0	20	60					A	101528904	G	A	101528904	3	1	221	1	0	0	0	0	1	0	0	0	9032	1232	43	2	513	2	LRRK1	15	101528904	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	67573884	101528904	1002488	59	27514											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139706	3139706	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcggacaggcgtaggGcttctcgcccgtgtgcaccc	14	15	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139706G>C	ENST00000252463.2	-	5	1651	c.1564C>G	c.(1564-1566)Ccc>Gcc	p.P522A	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	522					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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGCGTAGGGCTTCTCGCCC	0.716																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1564-1566)Ccc>Gcc		zinc finger and SCAN domain containing 10							11	12	11					16																	3139706		2188	4266	6454	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139706G>C	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1564C>G	16.37:g.3139706G>C	ENSP00000252463:p.Pro522Ala					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A	p.P522A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1651	-			522					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1564C>G	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511515	0.44660	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.28255	1.62	5.34	5.34	0.76211	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.53916	0.1826	M	0.62266	1.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.968	T	0.54675	-0.8258	10	0.62326	D	0.03	-37.2107	16.5306	0.84357	0.0:0.0:1.0:0.0	.	183;455;522	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	A	455;522	ENSP00000252463:P522A	ENSP00000252463:P522A	P	-	1	0	ZSCAN10	3079707	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	3.781000	0.55394	2.504000	0.84457	0.561000	0.74099	CCC		0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		4	11	0	0	0	1	0	4	11					C	3139706	G	C	3139706	3	2	221	1	0	0	0	0	1	0	0	0	18224	1203	42	4	617	4	ZSCAN10	16	3139706	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		3139706	87215047	60	27515			1	23		2	2	26	G		7.510202e-05
ZSCAN10	84891	broad.mit.edu	37	chr16	3139731	3139731	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccgtgtgcacccgttgGtggctgaccagctgcgagct	14	14	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139731G>C	ENST00000252463.2	-	5	1626	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	513					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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCACCCGTTGGTGGCTGACCA	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1537-1539)caC>caG		zinc finger and SCAN domain containing 10							11	12	12					16																	3139731		2178	4259	6437	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139731G>C	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1539C>G	16.37:g.3139731G>C	ENSP00000252463:p.His513Gln					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q	p.H513Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1626	-			513					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1539C>G	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763666	0.49574	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	D	0.86865	-2.18	5.34	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000050	D	0.94512	0.8233	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.977	D	0.95113	0.8240	10	0.87932	D	0	-38.9554	12.1615	0.54107	0.0983:0.0:0.9017:0.0	.	174;446;513	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	Q	446;513	ENSP00000252463:H513Q	ENSP00000252463:H513Q	H	-	3	2	ZSCAN10	3079732	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.275000	0.43399	2.504000	0.84457	0.561000	0.74099	CAC		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		3	15	0	0	0	1	0	3	15					C	3139731	G	C	3139731	3	2	221	1	0	0	0	0	1	0	0	0	18224	1252	44	4	642	4	ZSCAN10	16	3139731	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	25	3139731	87215022	61	27516			1	23		2	2	26	G		7.510202e-05
ZP2	7783	broad.mit.edu	37	chr16	21218255	21218255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgatacatgacagctccGtgtcttaaggcagcactgtt	9	10	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:21218255G>A	ENST00000574002.1	-	6	869	c.387C>T	c.(385-387)caC>caT	p.H129H	ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	129					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)		TGACAGCTCCGTGTCTTAAGG	0.478																																						ENST00000574002.1																			0				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						c.(385-387)caC>caT		zona pellucida glycoprotein 2 (sperm receptor)							241	198	212					16																	21218255		2199	4300	6499	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21218255G>A	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.387C>T	16.37:g.21218255G>A						ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H	p.H129H			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	869	-			129					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.387C>T	CCDS10596.1																																																																																				0.478	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			49	79	0	0	0	1	0	49	79					A	21218255	G	A	21218255	2	1	221	1	0	0	0	0	0	0	0	1	18213	1136	40	1		1	ZP2	16	21218255	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	18078524	21218255	69136498	62	27517											
CHP2	63928	broad.mit.edu	37	chr16	23768869	23768869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccttagagaagatggacGttgagcaaaaaatgagcatc	11	6	0	4	rs149498782	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:23768869G>T	ENST00000300113.2	+	7	979	c.556G>T	c.(556-558)Gtt>Ttt	p.V186F		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GAAGATGGACGTTGAGCAAAA	0.522																																						ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(556-558)Gtt>Ttt		calcineurin-like EF-hand protein 2							204	184	191					16																	23768869		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23768869G>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.556G>T	16.37:g.23768869G>T	ENSP00000300113:p.Val186Phe						p.V186F	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	7	979	+			186			EF-hand 4.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.556G>T	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963634	0.34659	.	.	ENSG00000166869	ENST00000300113	T	0.30714	1.52	4.57	2.34	0.29019	.	0.259165	0.31472	N	0.007595	T	0.28366	0.0701	M	0.72118	2.19	0.40035	D	0.975586	P	0.34892	0.474	B	0.34346	0.18	T	0.04373	-1.0956	10	0.36615	T	0.2	-12.9261	6.0782	0.19927	0.6764:0.0:0.3236:0.0	.	186	O43745	CHP2_HUMAN	F	186	ENSP00000300113:V186F	ENSP00000300113:V186F	V	+	1	0	AC130454.2	23676370	0.967000	0.33354	0.946000	0.38457	0.707000	0.40811	-0.004000	0.12878	0.376000	0.24707	-0.302000	0.09304	GTT		0.522	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		33	163	1	0	9.8876e-21	1	1.28969e-20	33	163					T	23768869	G	T	23768869	3	4	221	1	0	0	0	0	1	0	0	0	3367	1145	40	4	582	4	CHP2	16	23768869	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2550614	23768869	66585884	63	27518											
DNAJA2	10294	broad.mit.edu	37	chr16	47001550	47001550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggacagctccagactttCcgccttggctaaagcaagca	9	12	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:47001550C>T	ENST00000317089.5	-	5	667	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	151					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TCCAGACTTTCCGCCTTGGCT	0.463																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(451-453)gGa>gAa		DnaJ (Hsp40) homolog, subfamily A, member 2							206	164	178					16																	47001550		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47001550C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.452G>A	16.37:g.47001550C>T	ENSP00000314030:p.Gly151Glu						p.G151E	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			5	667	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	151					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.452G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907643	0.92107	.	.	ENSG00000069345	ENST00000317089	T	0.39056	1.1	5.7	5.7	0.88788	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79478	-0.1787	10	0.87932	D	0	-25.4967	19.4312	0.94768	0.0:1.0:0.0:0.0	.	151	O60884	DNJA2_HUMAN	E	151	ENSP00000314030:G151E	ENSP00000314030:G151E	G	-	2	0	DNAJA2	45559051	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	7.523000	0.81856	2.684000	0.91462	0.585000	0.79938	GGA		0.463	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			32	113	0	0	0	1	0	32	113					T	47001550	C	T	47001550	3	4	221	1	0	0	0	0	1	0	0	0	4612	855	30	2	806	2	DNAJA2	16	47001550	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	23232681	47001550	43353203	64	27519											
KCNG4	93107	broad.mit.edu	37	chr16	84270341	84270341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaggccgctcacctggtCctcctctgccctgaggtcgg	12	16	3	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:84270341C>T	ENST00000308251.4	-	2	819	c.751G>A	c.(751-753)Gac>Aac	p.D251N	KCNG4_ENST00000568181.1_Missense_Mutation_p.D251N	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	251					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CTCACCTGGTCCTCCTCTGCC	0.607																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(751-753)Gac>Aac		potassium voltage-gated channel, subfamily G, member 4							30	29	29					16																	84270341		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270341C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.751G>A	16.37:g.84270341C>T	ENSP00000312129:p.Asp251Asn					KCNG4_ENST00000308251.4_Missense_Mutation_p.D251N	p.D251N			Q8TDN1	KCNG4_HUMAN			2	871	-			251					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.751G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253351	0.80135	.	.	ENSG00000168418	ENST00000308251	D	0.96459	-4.02	5.11	5.11	0.69529	.	0.350713	0.31301	N	0.007893	D	0.96549	0.8874	M	0.61703	1.905	0.34853	D	0.741792	B;D	0.53462	0.085;0.96	B;P	0.52856	0.022;0.711	D	0.98483	1.0606	10	0.31617	T	0.26	.	17.5437	0.87855	0.0:1.0:0.0:0.0	.	251;251	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	N	251	ENSP00000312129:D251N	ENSP00000312129:D251N	D	-	1	0	KCNG4	82827842	0.999000	0.42202	1.000000	0.80357	0.497000	0.33675	2.426000	0.44731	2.364000	0.80123	0.549000	0.68633	GAC		0.607	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		9	41	0	0	0	1	0	9	41					T	84270341	C	T	84270341	3	4	221	1	0	0	0	0	1	0	0	0	8030	855	30	2	814	2	KCNG4	16	84270341	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	37268791	84270341	6084412	65	27520											
FAM57A	79850	broad.mit.edu	37	chr17	641276	641276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattctctttgtccttgtgCcagtcgcacaggtatggcct	9	12	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:641276C>T	ENST00000308278.8	+	3	633	c.397C>T	c.(397-399)Cca>Tca	p.P133S	FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	133	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTCCTTGTGCCAGTCGCACA	0.517																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(397-399)Cca>Tca		family with sequence similarity 57, member A							94	80	85					17																	641276		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641276C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.397C>T	17.37:g.641276C>T	ENSP00000312017:p.Pro133Ser					FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	p.P133S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	633	+			133			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.397C>T	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343742	0.82022	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D	0.84442	-1.85	5.67	5.67	0.87782	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94078	0.7341	10	0.72032	D	0.01	-13.3232	18.8271	0.92123	0.0:1.0:0.0:0.0	.	133;133	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	S	133;133;206	ENSP00000312017:P133S	ENSP00000301324:P133S	P	+	1	0	FAM57A	588026	1.000000	0.71417	0.966000	0.40874	0.537000	0.34900	6.952000	0.75989	2.694000	0.91930	0.638000	0.83543	CCA		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		4	79	0	0	0	1	0	4	79					T	641276	C	T	641276	3	4	221	1	0	0	0	0	1	0	0	0	5588	739	26	2	407	2	FAM57A	17	641276	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		641276	80553934	66	27521											
SMYD4	114826	broad.mit.edu	37	chr17	1715303	1715303	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctcctgtgtaatctttctCctgaaattttttgtttcctt	5	9	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:1715303C>A	ENST00000305513.7	-	3	408	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	81							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TAATCTTTCTCCTGAAATTTT	0.393																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(241-243)Gag>Tag		SET and MYND domain containing 4							128	138	135					17																	1715303		2203	4300	6503	SO:0001587	stop_gained	114826						zinc ion binding	g.chr17:1715303C>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.241G>T	17.37:g.1715303C>A	ENSP00000304360:p.Glu81*						p.E81*	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			3	408	-			81					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Nonsense_Mutation	SNP	ENST00000305513.7	37	c.241G>T	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346065	0.61073	.	.	ENSG00000186532	ENST00000305513	.	.	.	5.78	-1.65	0.08291	.	0.775970	0.13033	N	0.419103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-2.4945	5.1452	0.14981	0.0:0.3243:0.2647:0.4109	.	.	.	.	X	81	.	ENSP00000304360:E81X	E	-	1	0	SMYD4	1662053	0.008000	0.16893	0.536000	0.28039	0.974000	0.67602	-0.294000	0.08309	-0.104000	0.12154	0.650000	0.86243	GAG		0.393	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		28	132	1	0	3.73808e-20	1	4.82333e-20	28	132					A	1715303	C	A	1715303	4	1	221	1	0	0	0	0	0	1	0	0	14824	864	30	4	2209	4	SMYD4	17	1715303	Nonsense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1074027	1715303	79479907	67	27522											
TP53	7157	broad.mit.edu	37	chr17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-													cggttcatgccgcccatgcaGgaactgttacacatgtagtt					rs397516437|rs28934573		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:7577558_7577566delGGAACTGTT	ENST00000269305.4	-	7	904_912	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_ENST00000420246.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del|TP53_ENST00000574684.1_5'Flank	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(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)	CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		372	Substitution - Missense(261)|Deletion - Frameshift(37)|Insertion - Frameshift(26)|Deletion - In frame(20)|Whole gene deletion(8)|Substitution - coding silent(6)|Insertion - In frame(5)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(1)	large_intestine(39)|ovary(36)|haematopoietic_and_lymphoid_tissue(35)|urinary_tract(34)|breast(32)|lung(30)|endometrium(25)|oesophagus(23)|central_nervous_system(21)|biliary_tract(17)|upper_aerodigestive_tract(16)|stomach(12)|skin(10)|soft_tissue(7)|liver(7)|bone(7)|kidney(6)|pancreas(5)|thyroid(3)|prostate(3)|cervix(2)|eye(2)	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	GRCh37	CD984149|CM920673|CM942121	TP53	D|M	rs28934573	c.(715-723)del	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577558_7577566delGGAACTGTT	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.715_723delAACAGTTCC	17.37:g.7577558_7577566delGGAACTGTT	ENSP00000269305:p.Asn239_Ser241del	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)				TP53_ENST00000269305.4_In_Frame_Del_p.NSS239del|TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del	p.NSS239del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847_855	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	In_Frame_Del	DEL	ENST00000269305.4	37	c.715_723delAACAGTTCC	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	14						25	14	---	---	---	---	-	7577566	GGAACTGTT	-	7577558	7	5	221	1	0	1	0	1	0	0	0	0	16378	987	35	0	567	0	TP53	17	7577558	In_Frame_Del	DEL	GGAACTGTT	TCGA-FG-A6J3-01A-11D-A31L-08	5862255	7577558	73617652	68	27523											
MYH8	4626	broad.mit.edu	37	chr17	10295902	10295902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgctcatgtttccgtaaaCctttaacagcctctgcatta	6	12	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:10295902C>T	ENST00000403437.2	-	38	5619	c.5525G>A	c.(5524-5526)gGt>gAt	p.G1842D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1842					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						TTTCCGTAAACCTTTAACAGC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(5524-5526)gGt>gAt		myosin, heavy chain 8, skeletal muscle, perinatal							196	181	186					17																	10295902		2202	4300	6502	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295902C>T		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.5525G>A	17.37:g.10295902C>T	ENSP00000384330:p.Gly1842Asp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.G1842D	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			38	5619	-			1842					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5525G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116353	0.77323	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	5.03	5.03	0.67393	Myosin tail (1);	0.000000	0.42548	U	0.000689	D	0.82568	0.5065	M	0.87971	2.92	0.80722	D	1	B	0.10296	0.003	B	0.23275	0.045	T	0.81673	-0.0826	10	0.72032	D	0.01	.	18.5734	0.91145	0.0:1.0:0.0:0.0	.	1842	P13535	MYH8_HUMAN	D	1842	ENSP00000384330:G1842D	ENSP00000252173:G1842D	G	-	2	0	MYH8	10236627	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.609000	0.82925	2.610000	0.88304	0.650000	0.86243	GGT		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		5	194	0	0	0	1	0	5	194					T	10295902	C	T	10295902	3	4	221	1	0	0	0	0	1	0	0	0	10041	507	18	2	300	2	MYH8	17	10295902	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	2718344	10295902	70899308	69	27524											
ACACA	31	broad.mit.edu	37	chr17	35454875	35454875	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcccgctccttcaactTgttctccaactccttccgct	3	19	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:35454875T>A	ENST00000394406.2	-	53	6689	c.6499A>T	c.(6499-6501)Aag>Tag	p.K2167*	ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.K2204*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2167	Carboxyltransferase.				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)	TCCTTCAACTTGTTCTCCAAC	0.522																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				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						c.(6610-6612)Aag>Tag		acetyl-CoA carboxylase alpha	Biotin(DB00121)						155	143	147					17																	35454875		2203	4300	6503	SO:0001587	stop_gained	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35454875T>A	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.6499A>T	17.37:g.35454875T>A	ENSP00000377928:p.Lys2167*					ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.K2167*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*	p.K2204*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			53	7091	-		Breast(25;0.00157)|Ovarian(249;0.15)	2167					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.6610A>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	50	16.724232	0.99870	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2919	16.6288	0.85011	0.0:0.0:0.0:1.0	.	.	.	.	X	2204;2109;2167;2191;2089;866;293	.	ENSP00000335323:K2089X	K	-	1	0	ACACA	32528988	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.297000	0.72757	2.326000	0.78906	0.533000	0.62120	AAG		0.522	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		21	101	0	0	0	1	0	21	101					A	35454875	T	A	35454875	4	1	221	1	0	0	0	0	0	1	0	0	106	1821	63	5	557	5	ACACA	17	35454875	Nonsense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	25158973	35454875	45740335	70	27525											
KRT36	8689	broad.mit.edu	37	chr17	39643881	39643881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttattctccaccagggcctCgtactggcatctcatatcct	7	14	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39643881C>T	ENST00000328119.6	-	4	807	c.808G>A	c.(808-810)Gag>Aag	p.E270K	KRT36_ENST00000393986.2_Missense_Mutation_p.E220K	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	270	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(658-660)Gag>Aag		keratin 36							125	112	117					17																	39643881		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643881C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"-", "Intermediate filaments type I, keratins (acidic)"	6454	protein-coding gene	gene with protein product		604540	"keratin, hair, acidic, 6"	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.808G>A	17.37:g.39643881C>T	ENSP00000329165:p.Glu270Lys					KRT36_ENST00000328119.6_Missense_Mutation_p.E270K	p.E220K			O76013	KRT36_HUMAN			5	870	-		Breast(137;0.000286)	270			Coil 1B.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.658G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921692	0.92319	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.93076	-3.16;-3.16	5.69	5.69	0.88448	Filament (1);	0.000000	0.51477	D	0.000097	D	0.98226	0.9413	H	0.98996	4.395	0.58432	D	0.999992	D	0.69078	0.997	D	0.63793	0.918	D	0.99320	1.0906	10	0.87932	D	0	.	19.8057	0.96531	0.0:1.0:0.0:0.0	.	270	O76013	KRT36_HUMAN	K	220;270	ENSP00000377555:E220K;ENSP00000329165:E270K	ENSP00000329165:E270K	E	-	1	0	KRT36	36897407	1.000000	0.71417	0.873000	0.34254	0.401000	0.30781	7.611000	0.82962	2.682000	0.91365	0.655000	0.94253	GAG		0.602	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		34	105	0	0	0	1	0	34	105					T	39643881	C	T	39643881	3	4	221	1	0	0	0	0	1	0	0	0	8473	893	31	1	611	1	KRT36	17	39643881	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	4189006	39643881	41551329	71	27526											
KRT19	3880	broad.mit.edu	37	chr17	39684190	39684190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctctagctcgccgttggCcgcctccagggcgcgcacct	11	19	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39684190C>T	ENST00000361566.3	-	1	370	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	104	Coil 1A.|Rod.				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)				TCGCCGTTGGCCGCCTCCAGG	0.657																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(310-312)Gcc>Acc		keratin 19							51	58	56					17																	39684190		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39684190C>T		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.310G>A	17.37:g.39684190C>T	ENSP00000355124:p.Ala104Thr						p.A104T	NM_002276.4	NP_002267.2					1	370	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.310G>A	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	C	37	6.187780	0.97357	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89196	-2.48;-1.68	4.83	4.83	0.62350	Filament (1);	0.000000	0.46758	D	0.000268	D	0.91392	0.7284	M	0.65320	2	0.80722	D	1	P	0.51537	0.946	P	0.53689	0.732	D	0.90435	0.4427	10	0.34782	T	0.22	.	18.2759	0.90083	0.0:1.0:0.0:0.0	.	104	P08727	K1C19_HUMAN	T	104	ENSP00000355124:A104T;ENSP00000408759:A104T	ENSP00000355124:A104T	A	-	1	0	KRT19	36937716	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	7.639000	0.83342	2.387000	0.81309	0.462000	0.41574	GCC		0.657	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		4	109	0	0	0	1	0	4	109					T	39684190	C	T	39684190	3	4	221	1	0	0	0	0	1	0	0	0	8456	739	26	2	916	2	KRT19	17	39684190	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	40309	39684190	41511020	72	27527											
STAT5B	6777	broad.mit.edu	37	chr17	40369407	40369407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcaccatattcctgaaGtgggcactaagggtgcctgt	10	12	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:40369407G>A	ENST00000293328.3	-	10	1413	c.1245C>T	c.(1243-1245)caC>caT	p.H415H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	415					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|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)|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)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|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 cellular component movement (GO:0051272)|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 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 natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|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)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TATTCCTGAAGTGGGCACTAA	0.458																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1243-1245)caC>caT		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						108	101	104					17																	40369407		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40369407G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1245C>T	17.37:g.40369407G>A							p.H415H	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	10	1413	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	415					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.1245C>T	CCDS11423.1																																																																																				0.458	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		14	56	0	0	0	1	0	14	56					A	40369407	G	A	40369407	2	1	221	1	0	0	0	0	0	0	0	1	15268	1020	36	2		2	STAT5B	17	40369407	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	685217	40369407	40825803	73	27528											
DSG3	1830	broad.mit.edu	37	chr18	29054364	29054364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctggactcctacttttcTcaggtaatttggtgaaaaac	7	8	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:29054364T>C	ENST00000257189.4	+	15	2465	c.2382T>C	c.(2380-2382)tcT>tcC	p.S794S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					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)	p.S794S(1)		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)			CCTACTTTTCTCAGGTAATTT	0.368																																						ENST00000257189.4																			1	Substitution - coding silent(1)	p.S794S(1)	lung(1)	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						c.(2380-2382)tcT>tcC		desmoglein 3							125	132	129					18																	29054364		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054364T>C	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.2382T>C	18.37:g.29054364T>C							p.S794S	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2465	+			794					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2382T>C	CCDS11898.1																																																																																				0.368	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		51	46	0	0	0	1	0	51	46					C	29054364	T	C	29054364	2	2	221	1	0	0	0	0	0	0	0	1	4778	1538	54	3		3	DSG3	18	29054364	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		29054364	49022884	74	27529											
SERPINB4	6318	broad.mit.edu	37	chr18	61309104	61309104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgaaactggtgatgaaCatttcctgacctatcaacct	6	10	1	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61309104C>T	ENST00000341074.5	-	4	356	c.241G>A	c.(241-243)Gtt>Att	p.V81I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	81					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTGATGAACATTTCCTGAC	0.388																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(241-243)Gtt>Att		serpin peptidase inhibitor, clade B (ovalbumin), member 4							148	134	139					18																	61309104		2203	4298	6501	SO:0001583	missense	6318							g.chr18:61309104C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.241G>A	18.37:g.61309104C>T	ENSP00000343445:p.Val81Ile					SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	p.V81I	NM_002974.2	NP_002965.1					4	356	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.241G>A	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.357|8.357	0.832306|0.832306	0.16820|0.16820	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424	.|D;D	.|0.84223	.|-1.82;-1.82	3.76|3.76	2.88|2.88	0.33553|0.33553	.|Serpin domain (3);	.|0.241343	.|0.22194	.|N	.|0.063329	D|D	0.82273|0.82273	0.5001|0.5001	L|L	0.31526|0.31526	0.94|0.94	0.26252|0.26252	N|N	0.97871|0.97871	.|P;B	.|0.47545	.|0.897;0.038	.|P;B	.|0.60789	.|0.879;0.079	T|T	0.70912|0.70912	-0.4743|-0.4743	5|10	.|0.02654	.|T	.|1	.|.	10.827|10.827	0.46638|0.46638	0.0:0.8973:0.0:0.1027|0.0:0.8973:0.0:0.1027	.|.	.|81;81	.|P48594;Q9BYF7	.|SPB4_HUMAN;.	I|I	82|81	.|ENSP00000343445:V81I;ENSP00000348795:V81I	.|ENSP00000343445:V81I	M|V	-|-	3|1	0|0	SERPINB4|SERPINB4	59460084|59460084	0.000000|0.000000	0.05858|0.05858	0.365000|0.365000	0.25901|0.25901	0.904000|0.904000	0.53231|0.53231	-1.884000|-1.884000	0.01622|0.01622	2.098000|2.098000	0.63641|0.63641	0.603000|0.603000	0.83216|0.83216	ATG|GTT		0.388	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		6	82	0	0	0	1	0	6	82					T	61309104	C	T	61309104	3	4	221	1	0	0	0	0	1	0	0	0	14103	478	17	2	951	2	SERPINB4	18	61309104	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	32254740	61309104	16768144	75	27530											
SERPINB8	5271	broad.mit.edu	37	chr18	61654342	61654342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgcccacaagtgcttcGtggaggtcaatgaggaaggc	15	8	1	1	rs375110009		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61654342G>A	ENST00000397985.2	+	7	1211	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	319					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAGTGCTTCGTGGAGGTCAA	0.527																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(955-957)Gtg>Atg		serpin peptidase inhibitor, clade B (ovalbumin), member 8		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	90	76	81		955,955	3.9	0.5	18		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SERPINB8	NM_002640.3,NM_198833.1	21,21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	319/375,319/375	61654342	2,13004	2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654342G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.955G>A	18.37:g.61654342G>A	ENSP00000381072:p.Val319Met					SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M	p.V319M	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1211	+		Esophageal squamous(42;0.129)	319					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.955G>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119892	0.77323	2.27E-4	1.16E-4	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.83673	-1.75;-1.75;2.65	5.65	3.86	0.44501	Serpin domain (3);	0.051607	0.85682	D	0.000000	D	0.90882	0.7135	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91093	0.4908	10	0.87932	D	0	.	10.5453	0.45056	0.0712:0.1339:0.7949:0.0	.	319	P50452	SPB8_HUMAN	M	319;319;137	ENSP00000381072:V319M;ENSP00000331368:V319M;ENSP00000438328:V137M	ENSP00000331368:V319M	V	+	1	0	SERPINB8	59805322	1.000000	0.71417	0.527000	0.27925	0.965000	0.64279	4.674000	0.61612	0.930000	0.37217	-0.176000	0.13171	GTG		0.527	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		7	34	0	0	0	1	0	7	34					A	61654342	G	A	61654342	3	1	221	1	0	0	0	0	1	0	0	0	14107	1145	40	1	990	1	SERPINB8	18	61654342	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	345238	61654342	16422906	76	27531											
ANKRD24	170961	broad.mit.edu	37	chr19	4199916	4199916	+	Frame_Shift_Del	DEL	G	G	-													gagaggctgctacaagccgtGgaaaacaacgatgcacctcg							TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:4199916delG	ENST00000600132.1	+	4	444	c.168delG	c.(166-168)gtgfs	p.V56fs	ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs|ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	56										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACAAGCCGTGGAAAACAACG	0.662																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(166-168)gtfs		ankyrin repeat domain 24							17	22	20					19																	4199916		2067	4187	6254	SO:0001589	frameshift_variant	170961							g.chr19:4199916delG	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.168delG	19.37:g.4199916delG	ENSP00000471252:p.Val56fs					ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs	p.V56fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	4	444	+			56					O75268|O95781	Frame_Shift_Del	DEL	ENST00000600132.1	37	c.168delG	CCDS45925.1																																																																																				0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		2	4						2	4	---	---	---	---	-	4199916	G	-	4199916	7	5	221	1	0	1	0	1	0	0	0	0	653	1335	47	0	178	0	ANKRD24	19	4199916	Frame_Shift_Del	DEL	G	TCGA-FG-A6J3-01A-11D-A31L-08		4199916	54929067	77	27532											
CALR3	125972	broad.mit.edu	37	chr19	16594777	16594777	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagtctgttcccaatccttCgattctgccggggacgtttc	9	12	2	0	rs200669493		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:16594777C>T	ENST00000269881.3	-	5	704	c.642G>A	c.(640-642)tcG>tcA	p.S214S	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	214	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCCAATCCTTCGATTCTGCCG	0.423																																						ENST00000269881.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						c.(640-642)tcG>tcA		calreticulin 3							116	103	107					19																	16594777		2203	4300	6503	SO:0001819	synonymous_variant	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16594777C>T	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"cancer/testis antigen 93", "calsperin"	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.642G>A	19.37:g.16594777C>T						CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	p.S214S	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN			5	704	-			214			4 X approximate repeats.|P-domain.		D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	c.642G>A	CCDS12344.1																																																																																				0.423	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		7	31	0	0	0	1	0	7	31					T	16594777	C	T	16594777	2	4	221	1	0	0	0	0	0	0	0	1	2593	871	31	1		1	CALR3	19	16594777	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	12394861	16594777	42534206	78	27533											
UPF1	5976	broad.mit.edu	37	chr19	18963850	18963850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttaacaagaagagaatcGcctacttcactttgcccaag	7	12	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:18963850G>A	ENST00000599848.1	+	7	1236	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UPF1_ENST00000262803.5_Missense_Mutation_p.A343T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	343	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAAGAGAATCGCCTACTTCAC	0.423																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1027-1029)Gcc>Acc		UPF1 regulator of nonsense transcripts homolog (yeast)							126	109	115					19																	18963850		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18963850G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1027G>A	19.37:g.18963850G>A	ENSP00000470142:p.Ala343Thr					UPF1_ENST00000599848.1_Missense_Mutation_p.A343T	p.A343T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			7	1299	+			343			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1027G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.091654	0.94149	.	.	ENSG00000005007	ENST00000262803	D	0.92965	-3.14	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	M	0.88450	2.955	0.80722	D	1	D;D	0.63880	0.993;0.981	P;P	0.51079	0.658;0.653	D	0.95984	0.8980	10	0.72032	D	0.01	-33.2799	16.4487	0.83972	0.0:0.0:1.0:0.0	.	343;343	Q92900;Q92900-2	RENT1_HUMAN;.	T	343	ENSP00000262803:A343T	ENSP00000262803:A343T	A	+	1	0	UPF1	18824850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.132000	0.65825	0.536000	0.68110	GCC		0.423	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		14	93	0	0	0	1	0	14	93					A	18963850	G	A	18963850	3	1	221	1	0	0	0	0	1	0	0	0	17000	1087	38	1	1053	1	UPF1	19	18963850	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2369073	18963850	40165133	79	27534											
SULT2B1	6820	broad.mit.edu	37	chr19	49102472	49102472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctaccgcaagcagatgcggGggatgccgaccttcccctgg	13	15	0	1	rs375751466		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:49102472G>T	ENST00000201586.2	+	7	1085	c.907G>T	c.(907-909)Ggg>Tgg	p.G303W	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000323090.4_Missense_Mutation_p.G288W	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	303					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)		GCAGATGCGGGGGATGCCGAC	0.657																																						ENST00000323090.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(862-864)Ggg>Tgg		sulfotransferase family, cytosolic, 2B, member 1							42	35	37					19																	49102472		2200	4298	6498	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49102472G>T	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.907G>T	19.37:g.49102472G>T	ENSP00000201586:p.Gly303Trp					SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.G303W	p.G288W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	6	1237	+		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)	303					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.862G>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995003	0.54041	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.83419	-1.72;-1.72	5.07	3.99	0.46301	Sulfotransferase domain (1);	0.000000	0.41001	U	0.000971	D	0.92473	0.7610	M	0.93808	3.46	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	D	0.85889	0.1427	10	0.72032	D	0.01	.	11.6503	0.51284	0.0:0.1796:0.8204:0.0	.	288;303	O00204-2;O00204	.;ST2B1_HUMAN	W	303;288	ENSP00000201586:G303W;ENSP00000312880:G288W	ENSP00000201586:G303W	G	+	1	0	SULT2B1	53794284	0.990000	0.36364	0.004000	0.12327	0.003000	0.03518	5.780000	0.68956	1.223000	0.43536	0.551000	0.68910	GGG		0.657	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		3	9	1	0	0.184627	1	0.189361	3	9					T	49102472	G	T	49102472	3	4	221	1	0	0	0	0	1	0	0	0	15379	1232	43	4	959	4	SULT2B1	19	49102472	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	30138622	49102472	10026511	80	27535											
PTPRH	5794	broad.mit.edu	37	chr19	55699488	55699488	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagttgctgtccctctcattCttcctgacgtggtcagcgaa	9	13	3	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:55699488C>A	ENST00000376350.3	-	13	2455	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	811					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)		CCCTCTCATTCTTCCTGACGT	0.572																																						ENST00000376350.3																			0				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						c.(2431-2433)aaG>aaT		protein tyrosine phosphatase, receptor type, H							162	127	139					19																	55699488		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55699488C>A		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.2433G>T	19.37:g.55699488C>A	ENSP00000365528:p.Lys811Asn					PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	p.K811N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	13	2455	-		Renal(1328;0.245)	811					C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2433G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494543	0.12702	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11712	2.75;2.75	4.15	-6.64	0.01801	.	.	.	.	.	T	0.05960	0.0155	L	0.39245	1.2	0.09310	N	1	B;P	0.44195	0.244;0.828	B;B	0.29785	0.107;0.105	T	0.12502	-1.0545	9	0.52906	T	0.07	.	8.7789	0.34778	0.1229:0.5847:0.0:0.2924	.	633;811	C9JCH2;Q9HD43	.;PTPRH_HUMAN	N	811;633	ENSP00000365528:K811N;ENSP00000263434:K633N	ENSP00000263434:K633N	K	-	3	2	PTPRH	60391300	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.240000	0.02914	-1.424000	0.01999	0.561000	0.74099	AAG		0.572	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			9	87	1	0	1.58986e-06	1	1.94677e-06	9	87					A	55699488	C	A	55699488	3	1	221	1	0	0	0	0	1	0	0	0	12803	912	32	4	946	4	PTPRH	19	55699488	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	6597016	55699488	3429495	81	27536											
SS18L1	26039	broad.mit.edu	37	chr20	60736516	60736516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcagaacatgaacctgGgccctggagccctgactcag	11	15	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr20:60736516G>A	ENST00000331758.3	+	4	282	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	86	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CATGAACCTGGGCCCTGGAGC	0.627			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(256-258)Ggc>Agc		synovial sarcoma translocation gene on chromosome 18-like 1							29	35	33					20																	60736516		2202	4300	6502	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60736516G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.256G>A	20.37:g.60736516G>A	ENSP00000333012:p.Gly86Ser					SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S|SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S	p.G86S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		4	282	+	Breast(26;3.97e-09)		86			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.256G>A	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366452	0.82463	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000450482;ENST00000370848	T;T;T	0.35973	1.46;1.46;1.28	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.66939	2.045	0.49915	D	0.999833	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65315	-0.6198	10	0.87932	D	0	-19.4081	16.679	0.85287	0.0:0.0:1.0:0.0	.	86;86	B4DSR7;O75177	.;CREST_HUMAN	S	86;86;89;89	ENSP00000393999:G86S;ENSP00000333012:G86S;ENSP00000359885:G89S	ENSP00000333012:G86S	G	+	1	0	SS18L1	60169911	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.358000	0.79466	1.934000	0.56057	0.195000	0.17529	GGC		0.627	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			18	63	0	0	0	1	0	18	63					A	60736516	G	A	60736516	3	1	221	1	0	0	0	0	1	0	0	0	15175	1232	43	2	270	2	SS18L1	20	60736516	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		60736516	2289004	82	27537											
DDTL	100037417	broad.mit.edu	37	chr22	24313560	24313560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggtaagaagtcatgtTtgaatgaggaagctctcttc	11	5	2	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:24313560T>C	ENST00000215770.5	+	3	384	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	DDT_ENST00000350608.3_3'UTR|DDT_ENST00000398344.4_3'UTR|KB-226F1.2_ENST00000609736.1_lincRNA	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)			kidney(1)|urinary_tract(1)	2						GAAGTCATGTTTGAATGAGGA	0.468																																						ENST00000215770.5																			0				kidney(1)|urinary_tract(1)	2						c.(370-372)Ttg>Ctg		D-dopachrome tautomerase-like							89	93	92					22																	24313560		2201	4297	6498	SO:0001819	synonymous_variant	100037417					cytoplasm	lyase activity	g.chr22:24313560T>C	CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"D-dopachrome decarboxylase-like protein"					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.370T>C	22.37:g.24313560T>C						DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	p.L124L	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN			3	384	+			124					B4DJJ7	Silent	SNP	ENST00000215770.5	37	c.370T>C	CCDS42988.1																																																																																				0.468	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1	NM_001084393		14	60	0	0	0	1	0	14	60					C	24313560	T	C	24313560	2	2	221	1	0	0	0	0	0	0	0	1	4340	1838	64	3		3	DDTL	22	24313560	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		24313560	26991006	83	27538											
MYH9	4627	broad.mit.edu	37	chr22	36681964	36681964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcatcccgctcctgctgGgcctggcgcttggcacgctc	12	17	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:36681964G>A	ENST00000216181.5	-	36	5327	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1699					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						GCTCCTGCTGGGCCTGGCGCT	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				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						c.(5095-5097)gcC>gcT		myosin, heavy chain 9, non-muscle							48	46	47					22																	36681964		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681964G>A		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.5097C>T	22.37:g.36681964G>A						MYH9_ENST00000475726.1_5'UTR	p.A1699A	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5327	-			1699					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5097C>T	CCDS13927.1																																																																																				0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		21	39	0	0	0	1	0	21	39					A	36681964	G	A	36681964	2	1	221	1	0	0	0	0	0	0	0	1	10042	1219	43	2		2	MYH9	22	36681964	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	12368404	36681964	14622602	84	27539											
TCF20	6942	broad.mit.edu	37	chr22	42608734	42608734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatcttctttcagagaGggaacccccaggctcatgtg	10	12	4	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:42608734G>A	ENST00000359486.3	-	1	2714	c.2578C>T	c.(2578-2580)Ctc>Ttc	p.L860F	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	860					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						CTTTCAGAGAGGGAACCCCCA	0.478																																						ENST00000359486.3																			0				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						c.(2578-2580)Ctc>Ttc		transcription factor 20 (AR1)							97	99	98					22																	42608734		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608734G>A	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.2578C>T	22.37:g.42608734G>A	ENSP00000352463:p.Leu860Phe					TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2714	-			860					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2578C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118067	0.56505	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61627	0.1;0.09	5.26	5.26	0.73747	.	0.094659	0.46442	D	0.000290	T	0.62588	0.2440	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64776	0.929;0.852	T	0.62483	-0.6845	10	0.38643	T	0.18	-12.7877	19.0588	0.93078	0.0:0.0:1.0:0.0	.	860;860	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	860	ENSP00000352463:L860F;ENSP00000335561:L860F	ENSP00000335561:L860F	L	-	1	0	TCF20	40938678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.088000	0.64486	2.718000	0.92993	0.655000	0.94253	CTC		0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		24	92	0	0	0	1	0	24	92					A	42608734	G	A	42608734	3	1	221	1	0	0	0	0	1	0	0	0	15687	1000	35	2	3342	2	TCF20	22	42608734	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	5926770	42608734	8695832	85	27540											
BRD1	23774	broad.mit.edu	37	chr22	50217457	50217457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcccttgcgcttctcaTtgacgatctccagccaggca	9	15	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:50217457T>C	ENST00000216267.8	-	1	995	c.509A>G	c.(508-510)aAt>aGt	p.N170S	BRD1_ENST00000404034.1_Missense_Mutation_p.N170S|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000459821.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	170					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGCTTCTCATTGACGATCTC	0.567																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(508-510)aAt>aGt		bromodomain containing 1							97	74	81					22																	50217457		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217457T>C	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.509A>G	22.37:g.50217457T>C	ENSP00000216267:p.Asn170Ser					BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000404034.1_Missense_Mutation_p.N170S	p.N170S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	995	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	170					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.509A>G	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524808	0.64747	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.72	4.72	0.59763	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.87971	2.92	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	T	0.82313	-0.0519	9	.	.	.	.	14.1924	0.65646	0.0:0.0:0.0:1.0	.	170;170;170	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	S	170	ENSP00000216267:N170S;ENSP00000384076:N170S;ENSP00000385858:N170S;ENSP00000410042:N170S	.	N	-	2	0	BRD1	48603461	1.000000	0.71417	0.998000	0.56505	0.678000	0.39670	7.528000	0.81941	1.756000	0.51951	0.372000	0.22366	AAT		0.567	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		23	30	0	0	0	1	0	23	30					C	50217457	T	C	50217457	3	2	221	1	0	0	0	0	1	0	0	0	1501	1493	52	3	2715	3	BRD1	22	50217457	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	7608723	50217457	1087109	86	27541											
NHS	4810	broad.mit.edu	37	chrX	17739569	17739569	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtttgcagtcccatccCccagaggatgaagatacaga	9	11	0	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:17739569C>A	ENST00000380060.3	+	4	1199	c.861C>A	c.(859-861)ccC>ccA	p.P287P	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	308					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)					AGTCCCATCCCCCAGAGGATG	0.423																																						ENST00000380060.3																			0				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						c.(859-861)ccC>ccA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							110	91	98					X																	17739569		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17739569C>A		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.861C>A	X.37:g.17739569C>A						NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	p.P287P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			4	1199	+	Hepatocellular(33;0.183)		287					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.861C>A	CCDS14181.1																																																																																				0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		7	48	1	0	0.00198382	1	0.00212552	7	48					A	17739569	C	A	17739569	2	1	221	1	0	0	0	0	0	0	0	1	10411	610	22	4		4	NHS	23	17739569	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		17739569	137530991	87	27542											
ASB12	142689	broad.mit.edu	37	chrX	63444340	63444340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtgatagaagtgaccGtggagtggctacagcaagaa	14	7	0	4	rs148589525	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:63444340G>A	ENST00000396130.2	-	2	804	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R653W|ASB12_ENST00000362002.2_Missense_Mutation_p.R278W			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	269	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AGAAGTGACCGTGGAGTGGCT	0.522													G|||	1	0.000264901	0.0	0.0	3775	,	,		12976	0.001		0.0	False		,,,				2504	0.0					ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1957-1959)Cgg>Tgg		myotubularin related protein 8		G	TRP/ARG	1,3834		0,0,1,1632,570	69	63	65		832	2.7	1	X	dbSNP_134	65	3,6725		0,2,1,2426,1871	yes	missense	ASB12	NM_130388.3	101	0,2,2,4058,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379		278/319	63444340	4,10559	2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444340G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.805C>T	X.37:g.63444340G>A	ENSP00000379435:p.Arg269Trp					ASB12_ENST00000362002.2_Missense_Mutation_p.R278W|ASB12_ENST00000396130.2_Missense_Mutation_p.R269W	p.R653W			Q96EF0	MTMR8_HUMAN			11	2046	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1957C>T		.	.	.	.	.	.	.	.	.	.	G	13.38	2.219930	0.39201	2.61E-4	4.46E-4	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.52754	0.65;0.65;0.65	3.64	2.73	0.32206	SOCS protein, C-terminal (2);	0.275577	0.39544	N	0.001336	T	0.49474	0.1559	L	0.56769	1.78	0.22017	N	0.999419	D;D	0.53312	0.959;0.959	P;P	0.50537	0.643;0.544	T	0.41520	-0.9504	10	0.62326	D	0.03	-4.9128	8.5297	0.33326	0.0:0.0:0.4364:0.5636	.	653;269	B4DQL0;Q8WXK4	.;ASB12_HUMAN	W	278;269;246;653	ENSP00000355195:R278W;ENSP00000379435:R269W;ENSP00000394003:R653W	ENSP00000354626:R246W	R	-	1	2	ASB12;MTMR8	63361065	1.000000	0.71417	0.998000	0.56505	0.374000	0.29953	4.059000	0.57470	0.846000	0.35142	0.468000	0.43344	CGG		0.522	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				18	23	0	0	0	1	0	18	23					A	63444340	G	A	63444340	3	1	221	1	0	0	0	0	1	0	0	0	1016	1144	40	1	128	1	ASB12	23	63444340	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	45704771	63444340	91826220	88	27543											
OPHN1	4983	broad.mit.edu	37	chrX	67273590	67273590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatctgggggcctcactgGggggcggatgatggttggct	20	7	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:67273590G>T	ENST00000355520.5	-	22	2862	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				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						GGCCTCACTGGGGGGCGGATG	0.552																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(2221-2223)Cca>Aca		oligophrenin 1							55	50	52					X																	67273590		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67273590G>T	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.2221C>A	X.37:g.67273590G>T	ENSP00000347710:p.Pro741Thr					OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	p.P741T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			22	2862	-			741			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.2221C>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996271	0.74818	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.75050	-0.9;-0.9	4.98	4.98	0.66077	.	0.054184	0.85682	D	0.000000	T	0.78464	0.4287	L	0.27053	0.805	0.26423	N	0.976067	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.72404	-0.4304	10	0.72032	D	0.01	.	14.4788	0.67564	0.0:0.0:1.0:0.0	.	633;741	F5H2E3;O60890	.;OPHN1_HUMAN	T	741;633	ENSP00000347710:P741T;ENSP00000438617:P633T	ENSP00000347710:P741T	P	-	1	0	OPHN1	67190315	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.181000	0.65054	2.293000	0.77203	0.600000	0.82982	CCA		0.552	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		4	53	1	0	1	1	1	4	53					T	67273590	G	T	67273590	3	4	221	1	0	0	0	0	1	0	0	0	10875	1232	43	4	199	4	OPHN1	23	67273590	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	3829250	67273590	87996970	89	27544											
CDX4	1046	broad.mit.edu	37	chrX	72667535	72667535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccaaggccagttcccCcagcaggagccgccacagcc	11	20	0	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:72667535C>A	ENST00000373514.2	+	1	446	c.446C>A	c.(445-447)cCc>cAc	p.P149H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	149					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)					GCCAGTTCCCCCAGCAGGAGC	0.647																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(445-447)cCc>cAc		caudal type homeobox 4							25	24	24					X																	72667535		2131	4162	6293	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667535C>A	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.446C>A	X.37:g.72667535C>A	ENSP00000362613:p.Pro149His						p.P149H	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	446	+	Renal(35;0.156)		149					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.446C>A	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	17.56	3.419575	0.62622	.	.	ENSG00000131264	ENST00000373514	T	0.57907	0.37	2.11	2.11	0.27256	Caudal-like activation domain (1);	0.069192	0.64402	D	0.000014	T	0.68192	0.2974	M	0.80183	2.485	0.54753	D	0.999985	D	0.89917	1.0	D	0.67231	0.95	T	0.72074	-0.4400	10	0.87932	D	0	-0.4489	9.6072	0.39641	0.0:1.0:0.0:0.0	.	149	O14627	CDX4_HUMAN	H	149	ENSP00000362613:P149H	ENSP00000362613:P149H	P	+	2	0	CDX4	72584260	1.000000	0.71417	0.993000	0.49108	0.922000	0.55478	5.283000	0.65621	1.352000	0.45808	0.432000	0.28606	CCC		0.647	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		7	47	1	0	0.00198382	1	0.00212552	7	47					A	72667535	C	A	72667535	3	1	221	1	0	0	0	0	1	0	0	0	3184	623	22	4	448	4	CDX4	23	72667535	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	5393945	72667535	82603025	90	27545											
DIAPH2	1730	broad.mit.edu	37	chrX	96173534	96173534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaacttttaggggctataaCaacagcagcagaaagaaata	8	6	0	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:96173534C>A	ENST00000324765.8	+	9	1243	c.896C>A	c.(895-897)aCa>aAa	p.T299K	DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	299	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGGCTATAACAACAGCAGCA	0.368																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(895-897)aCa>aAa		diaphanous-related formin 2							89	79	83					X																	96173534		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96173534C>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.896C>A	X.37:g.96173534C>A	ENSP00000321348:p.Thr299Lys					DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K	p.T299K			O60879	DIAP2_HUMAN			9	1243	+			299			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.896C>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	c	19.62	3.862391	0.71949	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.77	5.77	0.91146	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	M	0.88570	2.965	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.996	D	0.94312	0.7546	10	0.44086	T	0.13	.	18.555	0.91080	0.0:1.0:0.0:0.0	.	299;299;306	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	K	299;295;299;299;299;306	ENSP00000362152:T299K;ENSP00000362145:T295K;ENSP00000348082:T299K;ENSP00000362140:T299K;ENSP00000321348:T299K	ENSP00000321348:T299K	T	+	2	0	DIAPH2	96060190	0.998000	0.40836	0.937000	0.37676	0.911000	0.54048	3.303000	0.51858	2.431000	0.82371	0.534000	0.68092	ACA		0.368	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		8	44	1	0	3.86212e-05	1	4.41385e-05	8	44					A	96173534	C	A	96173534	3	1	221	1	0	0	0	0	1	0	0	0	4519	478	17	4	930	4	DIAPH2	23	96173534	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	23505999	96173534	59097026	91	27546											
AIFM1	9131	broad.mit.edu	37	chrX	129274525	129274525	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctgttgcaatcaagcacTtttcataggttatttgagag	8	8	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:129274525T>A	ENST00000287295.3	-	7	994	c.764A>T	c.(763-765)aAg>aTg	p.K255M	AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M|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	255	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)	AATCAAGCACTTTTCATAGGT	0.423																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(763-765)aAg>aTg		apoptosis-inducing factor, mitochondrion-associated, 1							234	190	205					X																	129274525		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129274525T>A	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.764A>T	X.37:g.129274525T>A	ENSP00000287295:p.Lys255Met					AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M|AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000346424.2_Intron	p.K255M	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			7	994	-			255			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.764A>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216169	0.79352	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.53206	0.63;0.63;0.63	5.26	5.26	0.73747	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.992;0.996	T	0.81326	-0.0983	10	0.87932	D	0	-12.9722	14.2439	0.65975	0.0:0.0:0.0:1.0	.	255;251;255	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	M	251;168;255	ENSP00000315122:K251M;ENSP00000446113:K168M;ENSP00000287295:K255M	ENSP00000287295:K255M	K	-	2	0	AIFM1	129102206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.741000	0.51731	0.380000	0.24917	AAG		0.423	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			13	75	0	0	0	1	0	13	75					A	129274525	T	A	129274525	3	1	221	1	0	0	0	0	1	0	0	0	426	1609	56	5	1129	5	AIFM1	23	129274525	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	33100991	129274525	25996035	92	27547											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220045	130220045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgccatgattgataaCtgggatgtcctcttccaggt	11	10	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:130220045C>A	ENST00000276211.5	+	9	1608	c.1263C>A	c.(1261-1263)aaC>aaA	p.N421K	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	421	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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						TGATTGATAACTGGGATGTCC	0.448																																						ENST00000276211.5																			0				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						c.(1261-1263)aaC>aaA		Rho GTPase activating protein 36							301	258	272					X																	130220045		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220045C>A		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.1263C>A	X.37:g.130220045C>A	ENSP00000276211:p.Asn421Lys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K	p.N421K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			9	1608	+			421			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1263C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621571	0.46736	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.76	1.75	0.24633	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.261170	0.27558	N	0.018823	T	0.53417	0.1795	L	0.48986	1.54	0.34713	D	0.727957	D;D;D	0.67145	0.996;0.996;0.99	D;D;P	0.78314	0.991;0.991;0.903	T	0.59731	-0.7399	10	0.48119	T	0.1	.	3.3049	0.06996	0.0:0.522:0.2185:0.2595	.	390;409;421	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	K	421;409;390;285	ENSP00000276211:N421K;ENSP00000359960:N409K;ENSP00000408515:N390K;ENSP00000359959:N285K	ENSP00000276211:N421K	N	+	3	2	ARHGAP36	130047726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.724000	0.25954	0.438000	0.26450	0.468000	0.43344	AAC		0.448	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		35	188	1	0	1.60099e-16	1	2.04381e-16	35	188					A	130220045	C	A	130220045	3	1	221	1	0	0	0	0	1	0	0	0	883	564	20	4	1293	4	ARHGAP36	23	130220045	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	945520	130220045	25050515	93	27548											
NT5C1A	84618	broad.mit.edu	37	chr1	40137623	40137623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcgtagaaaatcttggCttcctcccagaccggggccg	12	12	1	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:40137623C>T	ENST00000235628.1	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	30					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAATCTTGGCTTCCTCCCAG	0.662																																						ENST00000235628.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(88-90)Gcc>Acc		5'-nucleotidase, cytosolic IA							64	69	67					1																	40137623		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40137623C>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.88G>A	1.37:g.40137623C>T	ENSP00000235628:p.Ala30Thr						p.A30T	NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	87	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	30					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.88G>A	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276690	0.59758	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.02	3.07	0.35406	.	0.577871	0.15439	N	0.262278	T	0.40171	0.1106	L	0.36672	1.1	0.37244	D	0.906274	P	0.41420	0.749	B	0.41510	0.359	T	0.27606	-1.0069	9	0.07482	T	0.82	-4.4419	11.2008	0.48741	0.0:0.9047:0.0:0.0953	.	30	Q9BXI3	5NT1A_HUMAN	T	30	.	ENSP00000235628:A30T	A	-	1	0	NT5C1A	39910210	0.964000	0.33143	0.998000	0.56505	0.848000	0.48234	1.502000	0.35704	0.978000	0.38470	0.655000	0.94253	GCC		0.662	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		15	74	0	0	0	1	0	15	74					T	40137623	C	T	40137623	3	4	222	1	0	0	0	0	1	0	0	0	10685	797	28	2	1042	2	NT5C1A	1	40137623	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		40137623	209112998	1	27549											
CDC7	8317	broad.mit.edu	37	chr1	91978676	91978676	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgaaaatagagcttcttAaatttgtccagtctgaagct	7	7	2	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:91978676A>C	ENST00000428239.1	+	7	893	c.634A>C	c.(634-636)Aaa>Caa	p.K212Q	CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	212	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)		AGAGCTTCTTAAATTTGTCCA	0.408																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(634-636)Aaa>Caa		cell division cycle 7							65	68	67					1																	91978676		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91978676A>C	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.634A>C	1.37:g.91978676A>C	ENSP00000393139:p.Lys212Gln					CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	7	893	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	212			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.634A>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132577	0.77662	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.52983	0.64;0.81;0.81	5.54	5.54	0.83059	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043993	0.85682	D	0.000000	T	0.43875	0.1267	N	0.20685	0.6	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46303	-0.9201	10	0.35671	T	0.21	-19.3033	15.6763	0.77326	1.0:0.0:0.0:0.0	.	184;212	B7Z5H7;O00311	.;CDC7_HUMAN	Q	184;212;212	ENSP00000407477:K184Q;ENSP00000234626:K212Q;ENSP00000393139:K212Q	ENSP00000234626:K212Q	K	+	1	0	CDC7	91751264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.591000	0.74090	2.086000	0.62901	0.460000	0.39030	AAA		0.408	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	52	0	0	0	1	0	4	52					C	91978676	A	C	91978676	3	2	222	1	0	0	0	0	1	0	0	0	3084	363	13	5	656	5	CDC7	1	91978676	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	51841053	91978676	157271945	2	27550											
OR10K1	391109	broad.mit.edu	37	chr1	158436010	158436010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctagtctcctacatccGcatcatctctgccattctaa	3	15	4	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:158436010G>A	ENST00000289451.2	+	1	739	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R220H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTACATCCGCATCATCTCT	0.478																																						ENST00000289451.2																			1	Substitution - Missense(1)	p.R220H(1)	pancreas(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(658-660)cGc>cAc		olfactory receptor, family 10, subfamily K, member 1							127	117	121					1																	158436010		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436010G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.659G>A	1.37:g.158436010G>A	ENSP00000289451:p.Arg220His						p.R220H	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	739	+	all_hematologic(112;0.0378)		220					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.659G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	1.889	-0.455979	0.04540	.	.	ENSG00000173285	ENST00000289451	T	0.00107	8.72	4.24	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.990047	0.08200	N	0.982456	T	0.00012	0.0000	N	0.04820	-0.15	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.01608	-1.1313	10	0.15066	T	0.55	.	4.5418	0.12061	0.4879:0.0:0.2528:0.2593	.	220	Q8NGX5	O10K1_HUMAN	H	220	ENSP00000289451:R220H	ENSP00000289451:R220H	R	+	2	0	OR10K1	156702634	0.000000	0.05858	0.020000	0.16555	0.187000	0.23431	-2.460000	0.00999	-0.778000	0.04566	-0.233000	0.12211	CGC		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			10	61	0	0	0	1	0	10	61					A	158436010	G	A	158436010	3	1	222	1	0	0	0	0	1	0	0	0	10913	1087	38	1	661	1	OR10K1	1	158436010	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	66457334	158436010	90814611	3	27551											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	66	0	0	0	1	0	25	66					T	209113112	C	T	209113112	3	4	222	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		209113112	34086261	4	27552											
SCN11A	11280	broad.mit.edu	37	chr3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtgactatgtcgaacaCgagaccttgacatttgttct	9	9	1	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:38892224C>T	ENST00000302328.3	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1359M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					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)	ATGTCGAACACGAGACCTTGA	0.308																																						ENST00000450244.1																			0				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						c.(4075-4077)Gtg>Atg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						116	108	110					3																	38892224		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38892224C>T	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.4075G>A	3.37:g.38892224C>T	ENSP00000307599:p.Val1359Met					SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1359M	p.V1359M			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	25	4273	-			1359					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4075G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	5.739	0.320727	0.10845	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96554	-4.05;-4.05;-4.03;-3.89	4.98	4.11	0.48088	.	0.188740	0.46758	D	0.000276	D	0.91418	0.7292	M	0.62723	1.935	0.09310	N	0.999999	P	0.39737	0.685	B	0.24541	0.054	D	0.86277	0.1665	10	0.51188	T	0.08	.	2.6874	0.05111	0.1337:0.4982:0.209:0.159	.	1359	Q9UI33	SCNBA_HUMAN	M	1359;1359;1321;1359	ENSP00000307599:V1359M;ENSP00000400945:V1359M;ENSP00000416757:V1321M;ENSP00000408028:V1359M	ENSP00000307599:V1359M	V	-	1	0	SCN11A	38867228	0.000000	0.05858	0.507000	0.27676	0.171000	0.22731	-0.517000	0.06275	1.228000	0.43614	0.655000	0.94253	GTG		0.308	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		11	34	0	0	0	1	0	11	34					T	38892224	C	T	38892224	3	4	222	1	0	0	0	0	1	0	0	0	13913	536	19	1	1308	1	SCN11A	3	38892224	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		38892224	159130206	5	27553											
MYLK	4638	broad.mit.edu	37	chr3	123375992	123375992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaggtttctctcctacCgttgtgagttcagactcctg	8	13	3	2	rs574785619		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:123375992C>T	ENST00000475616.1	-	21	4268	c.4269G>A	c.(4267-4269)acG>acA	p.T1423T	MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000360772.3_Silent_p.T1423T			Q15746	MYLK_HUMAN	myosin light chain kinase	1423	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCTCTCCTACCGTTGTGAGTT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.001					ENST00000360772.3																			0				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						c.(4267-4269)acG>acA		myosin light chain kinase							144	134	137					3																	123375992		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123375992C>T	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.4269G>A	3.37:g.123375992C>T						MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000475616.1_Silent_p.T1423T	p.T1423T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	25	4647	-		Lung NSC(201;0.0496)	1423			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.4269G>A	CCDS46896.1																																																																																				0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		22	58	0	0	0	1	0	22	58					T	123375992	C	T	123375992	2	4	222	1	0	0	0	0	0	0	0	1	10056	639	23	1		1	MYLK	3	123375992	Silent	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08	84483768	123375992	74646438	6	27554											
SLC2A9	56606	broad.mit.edu	37	chr4	10027566	10027566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcactttcttcatcttctcCtcggtcctttttactgagct	4	13	5	1			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:10027566C>T	ENST00000506583.1	-	3	242	c.25G>A	c.(25-27)Gga>Aga	p.G9R	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCATCTTCTCCTCGGTCCTTT	0.388																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(25-27)Gga>Aga		solute carrier family 2 (facilitated glucose transporter), member 9							149	151	150					4																	10027566		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027566C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.25G>A	4.37:g.10027566C>T	ENSP00000422209:p.Gly9Arg					SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R	p.G9R			Q9NRM0	GTR9_HUMAN			3	242	-			0					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000506583.1	37	c.25G>A	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	C	3.707	-0.060384	0.07317	.	.	ENSG00000109667	ENST00000506583;ENST00000309065;ENST00000513129	D;D;D	0.87103	-1.6;-1.6;-2.21	3.59	-0.158	0.13383	.	.	.	.	.	T	0.72898	0.3518	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55159	-0.8184	8	.	.	.	.	2.8695	0.05613	0.1993:0.4602:0.0:0.3405	.	9	Q9NRM0-2	.	R	9	ENSP00000422209:G9R;ENSP00000311383:G9R;ENSP00000426800:G9R	.	G	-	1	0	SLC2A9	9636664	0.002000	0.14202	0.000000	0.03702	0.034000	0.12701	0.355000	0.20163	-0.075000	0.12798	0.561000	0.74099	GGA		0.388	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2			23	81	0	0	0	1	0	23	81					T	10027566	C	T	10027566	3	4	222	1	0	0	0	0	1	0	0	0	14552	690	24	2	1712	2	SLC2A9	4	10027566	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		10027566	181126710	7	27555											
TAPT1	202018	broad.mit.edu	37	chr4	16215462	16215462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtatacttggcctcatTatgttcaaggaagtaccctc	7	10	3	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:16215462T>G	ENST00000405303.2	-	2	342	c.259A>C	c.(259-261)Aat>Cat	p.N87H	TAPT1_ENST00000399920.3_Intron|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	87					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGGCCTCATTATGTTCAAGG	0.353																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(259-261)Aat>Cat		transmembrane anterior posterior transformation 1							151	147	148					4																	16215462		1842	4091	5933	SO:0001583	missense	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16215462T>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.259A>C	4.37:g.16215462T>G	ENSP00000385347:p.Asn87His					TAPT1_ENST00000399920.3_Intron|TAPT1_ENST00000508888.1_5'UTR	p.N87H	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			2	342	-			87					Q8N2S3|Q9NZK9	Missense_Mutation	SNP	ENST00000405303.2	37	c.259A>C	CCDS47030.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587333	0.86851	.	.	ENSG00000169762	ENST00000405303;ENST00000542770	T	0.32515	1.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.43621	-0.9380	10	0.52906	T	0.07	-24.3909	15.1969	0.73100	0.0:0.0:0.0:1.0	.	87	Q6NXT6	TAPT1_HUMAN	H	87	ENSP00000385347:N87H	ENSP00000385347:N87H	N	-	1	0	TAPT1	15824560	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.539000	0.82063	2.064000	0.61679	0.443000	0.29094	AAT		0.353	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		5	43	0	0	0	1	0	5	43					G	16215462	T	G	16215462	3	3	222	1	0	0	0	0	1	0	0	0	15551	1754	61	5	1496	5	TAPT1	4	16215462	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08	6187896	16215462	174938814	8	27556											
CARD6	84674	broad.mit.edu	37	chr5	40852495	40852495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggttctggatgaagataGcaaggaggatttgctggctg	15	5	1	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:40852495G>A	ENST00000254691.5	+	3	1260	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	354					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						GATGAAGATAGCAAGGAGGAT	0.463																																						ENST00000254691.5																			0				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						c.(1060-1062)aGc>aAc		caspase recruitment domain family, member 6							62	60	61					5																	40852495		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852495G>A	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.1061G>A	5.37:g.40852495G>A	ENSP00000254691:p.Ser354Asn					CARD6_ENST00000381677.3_Intron	p.S354N	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1260	+			354					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1061G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.377818	0.01204	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	D	0.92348	-3.02	5.49	-1.04	0.10068	.	1.005240	0.07993	N	0.987514	T	0.78610	0.4310	N	0.05199	-0.095	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.64512	-0.6390	10	0.15066	T	0.55	0.0076	5.4083	0.16335	0.5307:0.0:0.3259:0.1434	.	354	Q9BX69	CARD6_HUMAN	N	354	ENSP00000254691:S354N	ENSP00000254691:S354N	S	+	2	0	CARD6	40888252	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.114000	0.15520	-0.094000	0.12374	-0.140000	0.14226	AGC		0.463	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			10	17	0	0	0	1	0	10	17					A	40852495	G	A	40852495	3	1	222	1	0	0	0	0	1	0	0	0	2650	971	34	2	1071	2	CARD6	5	40852495	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		40852495	140062765	9	27557											
TTC1	7265	broad.mit.edu	37	chr5	159437647	159437647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttcctgatcccaaaAatcagcattcccagagtaag	6	13	1	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:159437647A>G	ENST00000231238.5	+	2	222	c.112A>G	c.(112-114)Aat>Gat	p.N38D	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	38					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGATCCCAAAAATCAGCATTC	0.507																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(112-114)Aat>Gat		tetratricopeptide repeat domain 1							57	57	57					5																	159437647		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437647A>G	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.112A>G	5.37:g.159437647A>G	ENSP00000231238:p.Asn38Asp					TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	p.N38D	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	222	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	38					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.112A>G	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.120184	0.00346	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.15139	2.45;2.45	4.97	3.1	0.35709	.	0.993222	0.08193	N	0.983446	T	0.03651	0.0104	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	10	0.07990	T	0.79	-10.2882	6.0392	0.19724	0.1073:0.1927:0.7:0.0	.	38	Q99614	TTC1_HUMAN	D	38	ENSP00000231238:N38D;ENSP00000429225:N38D	ENSP00000231238:N38D	N	+	1	0	TTC1	159370225	0.028000	0.19301	0.001000	0.08648	0.179000	0.23085	1.385000	0.34408	0.444000	0.26612	-0.375000	0.07067	AAT		0.507	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		3	22	0	0	0	1	0	3	22					G	159437647	A	G	159437647	3	3	222	1	0	0	0	0	1	0	0	0	16675	14	1	3	114	3	TTC1	5	159437647	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	118585152	159437647	21477613	10	27558											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	16	0	0	0	1	0	3	16					A	45390463	G	A	45390463	2	1	222	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		45390463	125724604	11	27559											
KIAA1244	57221	broad.mit.edu	37	chr6	138618038	138618038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgcggagcaaagcacgGcccctgctccacgtgatgcg	13	13	0	1			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:138618038G>A	ENST00000251691.4	+	21	3760	c.3594G>A	c.(3592-3594)cgG>cgA	p.R1198R		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)		GCAAAGCACGGCCCCTGCTCC	0.587																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3592-3594)cgG>cgA		KIAA1244							104	98	100					6																	138618038		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138618038G>A	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.3594G>A	6.37:g.138618038G>A							p.R1198R	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	21	3760	+	Breast(32;0.135)		1198						Silent	SNP	ENST00000251691.4	37	c.3594G>A	CCDS5189.2																																																																																				0.587	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	95	0	0	0	1	0	5	95					A	138618038	G	A	138618038	2	1	222	1	0	0	0	0	0	0	0	1	8217	1190	42	2		2	KIAA1244	6	138618038	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	93227575	138618038	32497029	12	27560											
GNAI1	2770	broad.mit.edu	37	chr7	79846748	79846748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactaagaatgtgcagtttgTttttgatgctgtaacagatg	10	4	0	3	rs552102809		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:79846748T>C	ENST00000351004.3	+	8	1377	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	335					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)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTGCAGTTTGTTTTTGATGCT	0.318																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1003-1005)gTt>gCt		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							130	118	122					7																	79846748		2203	4300	6503	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846748T>C	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.1004T>C	7.37:g.79846748T>C	ENSP00000343027:p.Val335Ala					GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	p.V335A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			8	1377	+			335					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.1004T>C	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098962	0.76870	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90197	-2.63;-2.63	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96975	0.9711	9	.	.	.	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	335	P63096	GNAI1_HUMAN	A	335;283	ENSP00000343027:V335A;ENSP00000410572:V283A	.	V	+	2	0	GNAI1	79684684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.460000	0.39030	GTT		0.318	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		4	65	0	0	0	1	0	4	65					C	79846748	T	C	79846748	3	2	222	1	0	0	0	0	1	0	0	0	6504	1725	60	3	1034	3	GNAI1	7	79846748	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08		79846748	79291915	13	27561											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518984	113518984	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttctgctttctcagtAatgccatgatcagctagaga	8	11	3	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:113518984A>G	ENST00000284601.3	-	4	2231	c.2163T>C	c.(2161-2163)atT>atC	p.I721I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	721					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						CTTTCTCAGTAATGCCATGAT	0.388																																						ENST00000284601.3																			0				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						c.(2161-2163)atT>atC		protein phosphatase 1, regulatory subunit 3A							179	173	175					7																	113518984		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113518984A>G	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.2163T>C	7.37:g.113518984A>G							p.I721I	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2231	-			721					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2163T>C	CCDS5759.1																																																																																				0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		44	91	0	0	0	1	0	44	91					G	113518984	A	G	113518984	2	3	222	1	0	0	0	0	0	0	0	1	12371	358	13	3		3	PPP1R3A	7	113518984	Silent	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	33672236	113518984	45619679	14	27562											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362427	105362427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggaccttctggtaggCgctgcatgtcatgtacgagg	14	10	2	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr10:105362427C>T	ENST00000369774.4	-	15	2824	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	850	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCTGGTAGGCGCTGCATGTC	0.617																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2548-2550)Gcc>Acc		SH3 and PX domains 2A							68	69	68					10																	105362427		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362427C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2548G>A	10.37:g.105362427C>T	ENSP00000358789:p.Ala850Thr					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000427662.2_Intron	p.A850T			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2824	-		Colorectal(252;0.0815)|Breast(234;0.131)	850			SH3 4.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2548G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.328|3.328	-0.137227|-0.137227	0.06711|0.06711	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74|.	4.83|4.83	2.8|2.8	0.32819|0.32819	Src homology-3 domain (3);|.	0.629728|.	0.16897|.	N|.	0.195081|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.38953|0.38953	1.18|1.18	0.20638|0.20638	N|N	0.999874|0.999874	D;D;P;D|.	0.56746|.	0.977;0.977;0.53;0.972|.	P;P;B;B|.	0.45998|.	0.5;0.5;0.115;0.367|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.33940|.	T|.	0.23|.	-20.9225|-20.9225	6.4044|6.4044	0.21656|0.21656	0.4904:0.4188:0.0:0.0908|0.4904:0.4188:0.0:0.0908	.|.	850;699;695;822|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	850;822;657;765;717;685|776	ENSP00000358789:A850T;ENSP00000348215:A822T;ENSP00000443663:A717T;ENSP00000441514:A685T|.	ENSP00000318135:A657T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105352417|105352417	0.022000|0.022000	0.18835|0.18835	0.786000|0.786000	0.31890|0.31890	0.642000|0.642000	0.38348|0.38348	0.254000|0.254000	0.18314|0.18314	1.020000|1.020000	0.39573|0.39573	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		16	33	0	0	0	1	0	16	33					T	105362427	C	T	105362427	3	4	222	1	0	0	0	0	1	0	0	0	14256	768	27	1	857	1	SH3PXD2A	10	105362427	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		105362427	30172320	15	27563											
SIGIRR	59307	broad.mit.edu	37	chr11	408721	408721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcgtggaggctgtagtgGcccccaattcccaatggaag	12	11	0	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr11:408721G>A	ENST00000431843.2	-	3	486	c.180C>T	c.(178-180)ggC>ggT	p.G60G	SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000397632.3_Silent_p.G60G|SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000382520.2_Silent_p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	60	Ig-like C2-type.				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)		GGCTGTAGTGGCCCCCAATTC	0.597																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(178-180)ggC>ggT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							108	114	112					11																	408721		2203	4293	6496	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408721G>A		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.180C>T	11.37:g.408721G>A						SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000382520.2_Silent_p.G60G|SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000397632.3_Silent_p.G60G	p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		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)	3	486	-		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)	60			Ig-like C2-type.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.180C>T	CCDS31325.1																																																																																				0.597	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		71	112	0	0	0	1	0	71	112					A	408721	G	A	408721	2	1	222	1	0	0	0	0	0	0	0	1	14304	1190	42	2		2	SIGIRR	11	408721	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		408721	134597795	16	27564											
MFSD5	84975	broad.mit.edu	37	chr12	53647929	53647929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcatgatgctgagctgcGggtaccttcacctactgagg	13	10	1	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:53647929G>A	ENST00000329548.4	+	2	1501	c.1310G>A	c.(1309-1311)cGg>cAg	p.R437Q	MFSD5_ENST00000534842.1_Missense_Mutation_p.R544Q	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	437					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						GCTGAGCTGCGGGTACCTTCA	0.547																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1630-1632)cGg>cAg		major facilitator superfamily domain containing 5							109	93	99					12																	53647929		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53647929G>A	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.1310G>A	12.37:g.53647929G>A	ENSP00000332624:p.Arg437Gln					MFSD5_ENST00000329548.4_Missense_Mutation_p.R437Q	p.R544Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1778	+			437					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1631G>A	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147897	0.37923	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000329548	.	.	.	5.66	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.065523	0.56097	D	0.000024	T	0.58722	0.2142	L	0.50333	1.59	0.46749	D	0.999188	P;D	0.56287	0.921;0.975	B;P	0.50860	0.131;0.652	T	0.54794	-0.8240	9	0.19147	T	0.46	-8.9085	13.7289	0.62776	0.0755:0.0:0.9245:0.0	.	437;544	Q6N075;G3V1N7	MFSD5_HUMAN;.	Q	451;544;437	.	ENSP00000332624:R437Q	R	+	2	0	MFSD5	51934196	1.000000	0.71417	0.992000	0.48379	0.246000	0.25737	2.771000	0.47670	1.379000	0.46325	0.655000	0.94253	CGG		0.547	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		3	60	0	0	0	1	0	3	60					A	53647929	G	A	53647929	3	1	222	1	0	0	0	0	1	0	0	0	9534	1116	39	1	1637	1	MFSD5	12	53647929	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		53647929	80203966	17	27565											
OBFC2B	79035	broad.mit.edu	37	chr12	56622879	56622879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccctcatactccctcccAcccacccagcacccgaatca	2	24	2	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:56622879A>C	ENST00000380198.2	+	6	1016	c.518A>C	c.(517-519)cAc>cCc	p.H173P	NABP2_ENST00000267023.4_Missense_Mutation_p.H173P|NABP2_ENST00000341463.5_Missense_Mutation_p.H173P|SLC39A5_ENST00000454355.2_5'Flank|SLC39A5_ENST00000266980.4_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	173	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										ACTCCCTCCCACCCACCCAGC	0.612																																						ENST00000380198.2																			0											c.(517-519)cAc>cCc		nucleic acid binding protein 2							23	25	24					12																	56622879		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56622879A>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.518A>C	12.37:g.56622879A>C	ENSP00000369545:p.His173Pro					NABP2_ENST00000341463.5_Missense_Mutation_p.H173P|NABP2_ENST00000267023.4_Missense_Mutation_p.H173P	p.H173P							6	1016	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.518A>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022733	0.54683	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.31247	1.5;1.5;1.5	5.17	5.17	0.71159	.	0.087877	0.44688	D	0.000429	T	0.41581	0.1165	L	0.38531	1.155	0.34679	D	0.72447	D	0.57571	0.98	D	0.64321	0.924	T	0.51779	-0.8662	9	.	.	.	-17.338	12.8351	0.57770	1.0:0.0:0.0:0.0	.	173	Q9BQ15	SOSB1_HUMAN	P	173	ENSP00000267023:H173P;ENSP00000369545:H173P;ENSP00000368862:H173P	.	H	+	2	0	OBFC2B	54909146	1.000000	0.71417	0.896000	0.35187	0.331000	0.28603	5.409000	0.66374	2.096000	0.63516	0.533000	0.62120	CAC		0.612	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		7	15	0	0	0	1	0	7	15					C	56622879	A	C	56622879	3	2	222	1	0	0	0	0	1	0	0	0	10809	159	6	5	540	5	OBFC2B	12	56622879	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	2974950	56622879	77229016	18	27566											
POTEG	404785	broad.mit.edu	37	chr14	19553674	19553674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcacttctggagaccaCgacgactctgctatgaagac	12	11	2	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:19553674C>T	ENST00000409832.3	+	1	310	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	86										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGACCACGACGACTCTG	0.602																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(256-258)caC>caT		POTE ankyrin domain family, member G							77	99	92					14																	19553674		1955	4003	5958	SO:0001819	synonymous_variant	404785							g.chr14:19553674C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.258C>T	14.37:g.19553674C>T							p.H86H	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	310	+			86					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.258C>T	CCDS32018.1																																																																																				0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		11	548	0	0	0	1	0	11	548					T	19553674	C	T	19553674	2	4	222	1	0	0	0	0	0	0	0	1	12266	535	19	1		1	POTEG	14	19553674	Silent	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		19553674	87795866	19	27567											
POTEM	641455	broad.mit.edu	37	chr14	20019963	20019963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcatagcagagtcgtcGtggtctccagaagtgcccac	11	12	3	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:20019963G>A	ENST00000551509.1	-	1	309	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	86										endometrium(4)|kidney(1)|lung(4)	9						CAGAGTCGTCGTGGTCTCCAG	0.612																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(256-258)caC>caT		POTE ankyrin domain family, member M							8	14	13					14																	20019963		310	1138	1448	SO:0001819	synonymous_variant	641455							g.chr14:20019963G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.258C>T	14.37:g.20019963G>A							p.H86H	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	309	-			86						Silent	SNP	ENST00000551509.1	37	c.258C>T	CCDS45076.1																																																																																				0.612	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		30	430	0	0	0	1	0	30	430					A	20019963	G	A	20019963	2	1	222	1	0	0	0	0	0	0	0	1	12268	1136	40	1		1	POTEM	14	20019963	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	466289	20019963	87329577	20	27568											
C14orf68	283600	broad.mit.edu	37	chr14	100789764	100789764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttcatggattttgtcGctggagccatcggaggtaac	12	9	1	0	rs144140477		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:100789764G>A	ENST00000361529.3	+	1	91	c.13G>A	c.(13-15)Gct>Act	p.A5T	AL157871.1_ENST00000583404.1_RNA|SLC25A47_ENST00000557052.1_De_novo_Start_InFrame	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	5					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						GGATTTTGTCGCTGGAGCCAT	0.632																																					GBM(11;1289 1351)	ENST00000361529.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(13-15)Gct>Act		solute carrier family 25, member 47		G	THR/ALA	0,4406		0,0,2203	80	68	72		13	4.3	0.8	14	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC25A47	NM_207117.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	5/309	100789764	1,13005	2203	4300	6503	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100789764G>A		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.13G>A	14.37:g.100789764G>A	ENSP00000354886:p.Ala5Thr					SLC25A47_ENST00000557052.1_De_novo_Start_InFrame	p.A5T	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN			1	91	+			5					B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.13G>A	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176472	0.57692	0.0	1.16E-4	ENSG00000140107	ENST00000361529	D	0.82081	-1.57	4.3	4.3	0.51218	Mitochondrial carrier domain (2);	0.117485	0.56097	D	0.000029	D	0.91570	0.7337	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.93159	0.6556	10	0.87932	D	0	.	13.9781	0.64285	0.0:0.0:1.0:0.0	.	5	Q6Q0C1	S2547_HUMAN	T	5	ENSP00000354886:A5T	ENSP00000354886:A5T	A	+	1	0	SLC25A47	99859517	0.997000	0.39634	0.780000	0.31762	0.532000	0.34746	3.877000	0.56123	2.389000	0.81357	0.655000	0.94253	GCT		0.632	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			13	20	0	0	0	1	0	13	20					A	100789764	G	A	100789764	3	1	222	1	0	0	0	0	1	0	0	0	1778	1087	38	1	15	1	C14orf68	14	100789764	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	80769801	100789764	6559776	21	27569											
MYO5C	55930	broad.mit.edu	37	chr15	52521388	52521388	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatcagaagtgacgtgcTccccctccaccaggtgttgg	11	14	1	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr15:52521388T>C	ENST00000261839.7	-	25	3310	c.3149A>G	c.(3148-3150)gAg>gGg	p.E1050G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1050						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)		AGTGACGTGCTCCCCCTCCAC	0.522																																						ENST00000261839.7																			0				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						c.(3148-3150)gAg>gGg		myosin VC							133	131	132					15																	52521388		1929	4119	6048	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52521388T>C	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.3149A>G	15.37:g.52521388T>C	ENSP00000261839:p.Glu1050Gly						p.E1050G	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	25	3310	-			1050					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.3149A>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	3.580	-0.085825	0.07097	.	.	ENSG00000128833	ENST00000261839	T	0.19532	2.14	5.88	2.29	0.28610	.	0.185231	0.46442	N	0.000285	T	0.09335	0.0230	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24548	-1.0157	10	0.19590	T	0.45	.	9.0056	0.36109	0.0:0.2163:0.0:0.7837	.	1050	Q9NQX4	MYO5C_HUMAN	G	1050	ENSP00000261839:E1050G	ENSP00000261839:E1050G	E	-	2	0	MYO5C	50308680	0.942000	0.31987	0.030000	0.17652	0.004000	0.04260	1.099000	0.31013	0.129000	0.18514	-0.280000	0.10049	GAG		0.522	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		4	169	0	0	0	1	0	4	169					C	52521388	T	C	52521388	3	2	222	1	0	0	0	0	1	0	0	0	10080	1551	54	3	2147	3	MYO5C	15	52521388	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08		52521388	50010004	22	27570											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577132	+	In_Frame_Del	DEL	CAAAGC	CAAAGC	-													acaggcacaaacacgcacctCaaagctgttccgtcccagta							TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:7577127_7577132delCAAAGC	ENST00000269305.4	-	8	995_1000	c.806_811delGCTTTG	c.(805-813)agctttgag>aag	p.269_271SFE>K	TP53_ENST00000455263.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000445888.2_In_Frame_Del_p.269_271SFE>K	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	269	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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)	ACACGCACCTCAAAGCTGTTCCGTCC	0.539		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		160	Substitution - Missense(105)|Substitution - Nonsense(18)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - coding silent(3)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(2)|Complex - insertion inframe(1)|Insertion - In frame(1)	p.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(22)|oesophagus(22)|lung(19)|large_intestine(17)|breast(17)|haematopoietic_and_lymphoid_tissue(11)|upper_aerodigestive_tract(10)|stomach(8)|ovary(6)|central_nervous_system(5)|liver(5)|biliary_tract(4)|bone(4)|cervix(2)|salivary_gland(2)|pancreas(2)|testis(1)|soft_tissue(1)|eye(1)|prostate(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						c.(805-813)aag>a	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127_7577132delCAAAGC	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.806_811delGCTTTG	17.37:g.7577127_7577132delCAAAGC	ENSP00000269305:p.Ser269_Glu271delinsLys	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)				TP53_ENST00000455263.2_In_Frame_Del_p.SFE269del|TP53_ENST00000269305.4_In_Frame_Del_p.SFE269del|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.SFE269del|TP53_ENST00000445888.2_In_Frame_Del_p.SFE269del	p.SFE269del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	938_943	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	269		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	In_Frame_Del	DEL	ENST00000269305.4	37	c.806_811delGCTTTG	CCDS11118.1																																																																																				0.539	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	13						8	13	---	---	---	---	-	7577132	CAAAGC	-	7577127	7	5	222	1	0	1	0	1	0	0	0	0	16378	835	29	0	475	0	TP53	17	7577127	In_Frame_Del	DEL	CAAAGC	TCGA-FG-A70Y-01A-12D-A34J-08		7577127	73618083	23	27571											
KIF2B	84643	broad.mit.edu	37	chr17	51900741	51900741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaccgccacgaaatgggTtgcgatgatcccccagaaaa	11	12	0	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:51900741T>G	ENST00000268919.4	+	1	503	c.347T>G	c.(346-348)gTt>gGt	p.V116G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	116					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 nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAAATGGGTTGCGATGATC	0.602																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(346-348)gTt>gGt		kinesin family member 2B							75	79	78					17																	51900741		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900741T>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.347T>G	17.37:g.51900741T>G	ENSP00000268919:p.Val116Gly						p.V116G	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	503	+			116					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.347T>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.321899	0.01320	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73789	-0.78	5.11	2.76	0.32466	.	1.626690	0.03983	N	0.293563	T	0.62011	0.2393	L	0.34521	1.04	0.09310	N	1	B	0.25563	0.129	B	0.23275	0.045	T	0.47315	-0.9127	10	0.22109	T	0.4	.	4.0068	0.09605	0.0:0.1837:0.1808:0.6355	.	116	Q8N4N8	KIF2B_HUMAN	G	116;39	ENSP00000268919:V116G	ENSP00000268919:V116G	V	+	2	0	KIF2B	49255740	0.004000	0.15560	0.074000	0.20217	0.009000	0.06853	0.142000	0.16096	1.064000	0.40671	0.533000	0.62120	GTT		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		28	63	0	0	0	1	0	28	63					G	51900741	T	G	51900741	3	3	222	1	0	0	0	0	1	0	0	0	8298	1725	60	5	349	5	KIF2B	17	51900741	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08	44323614	51900741	29294469	24	27572											
RUVBL2	10856	broad.mit.edu	37	chr19	49513785	49513785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggggagctccagaaacGcaaggaggtggtgcacaccg	16	9	0	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:49513785G>A	ENST00000595090.1	+	9	1168	c.704G>A	c.(703-705)cGc>cAc	p.R235H	RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H|RUVBL2_ENST00000413176.2_Missense_Mutation_p.R190H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	235					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCCAGAAACGCAAGGAGGTG	0.647																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(568-570)cGc>cAc		RuvB-like AAA ATPase 2							116	126	123					19																	49513785		2092	4188	6280	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513785G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.704G>A	19.37:g.49513785G>A	ENSP00000473172:p.Arg235His					RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H|RUVBL2_ENST00000595090.1_Missense_Mutation_p.R235H	p.R190H			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	9	1717	+		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)	235					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.569G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405841	0.96051	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.49139	0.79	4.9	4.9	0.64082	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87215	0.2250	10	0.87932	D	0	-22.1273	15.9488	0.79817	0.0:0.0:1.0:0.0	.	235;201	Q9Y230;B3KNL2	RUVB2_HUMAN;.	H	235;190	ENSP00000413890:R190H	ENSP00000221413:R235H	R	+	2	0	RUVBL2	54205597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.108000	0.77055	2.446000	0.82766	0.650000	0.86243	CGC		0.647	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			5	90	0	0	0	1	0	5	90					A	49513785	G	A	49513785	3	1	222	1	0	0	0	0	1	0	0	0	13753	1087	38	1	738	1	RUVBL2	19	49513785	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		49513785	9615198	25	27573											
POLD1	5424	broad.mit.edu	37	chr19	50918151	50918151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccgacgcccacgaccGcatggactgcaagggcctgg	14	17	0	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:50918151G>A	ENST00000440232.2	+	20	2521	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	823					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)		GCCCACGACCGCATGGACTGC	0.662								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000440232.2																			0				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						c.(2467-2469)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							50	46	47					19																	50918151		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918151G>A		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.2468G>A	19.37:g.50918151G>A	ENSP00000406046:p.Arg823His		OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H	p.R823H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	20	2521	+		all_neural(266;0.0571)	823					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2468G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911147	0.52439	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18016	2.24	4.81	2.21	0.28008	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.222293	0.35585	N	0.003118	T	0.10294	0.0252	N	0.25789	0.76	0.33831	D	0.630231	B;B	0.20052	0.041;0.041	B;B	0.18871	0.016;0.023	T	0.07347	-1.0777	10	0.66056	D	0.02	-12.4618	4.9577	0.14050	0.4237:0.0:0.5763:0.0	.	849;823	E7EVW0;P28340	.;DPOD1_HUMAN	H	823;824	ENSP00000406046:R823H	ENSP00000366129:R824H	R	+	2	0	POLD1	55609963	1.000000	0.71417	0.999000	0.59377	0.490000	0.33462	3.533000	0.53561	1.156000	0.42514	0.537000	0.68136	CGC		0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	36	0	0	0	1	0	3	36					A	50918151	G	A	50918151	3	1	222	1	0	0	0	0	1	0	0	0	12190	1087	38	1	2542	1	POLD1	19	50918151	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	1404366	50918151	8210832	26	27574											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	4	9	3	1			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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						TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.R1426*(1)|p.?(1)	central_nervous_system(1)|bone(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						c.(4276-4278)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236	201	213					X																	76909629		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909629G>A	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.4276C>T	X.37:g.76909629G>A	ENSP00000362441:p.Arg1426*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	p.R1426*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4490	-			1426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4276C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	44	11.200502	0.99530	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	3.6	0.41247	.	0.079753	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8333	13.0038	0.58692	0.0:0.0:0.397:0.603	.	.	.	.	X	1426;1388	.	ENSP00000362441:R1426X	R	-	1	2	ATRX	76796285	0.991000	0.36638	0.982000	0.44146	0.683000	0.39861	1.747000	0.38298	0.544000	0.28883	0.502000	0.49764	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		45	88	0	0	0	1	0	45	88					A	76909629	G	A	76909629	4	1	222	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		76909629	78360931	27	27575											
RGAG1	57529	broad.mit.edu	37	chrX	109696777	109696777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctggagagatgtctatgCcgctaatggaaaccatggcc	11	10	2	1			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:109696777C>T	ENST00000465301.2	+	3	3178	c.2932C>T	c.(2932-2934)Ccg>Tcg	p.P978S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978										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						GATGTCTATGCCGCTAATGGA	0.502																																						ENST00000465301.2																			0				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						c.(2932-2934)Ccg>Tcg		retrotransposon gag domain containing 1							164	149	154					X																	109696777		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109696777C>T	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.2932C>T	X.37:g.109696777C>T	ENSP00000419786:p.Pro978Ser					RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	3178	+			978					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2932C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	4.001	-0.002549	0.07819	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.56776	0.44;0.44	3.89	3.02	0.34903	.	.	.	.	.	T	0.49830	0.1580	M	0.71036	2.16	0.09310	N	0.999999	P	0.43973	0.823	B	0.39738	0.308	T	0.41875	-0.9484	8	.	.	.	-6.0477	8.6271	0.33897	0.0:0.8811:0.0:0.1189	.	978	Q8NET4	RGAG1_HUMAN	S	978	ENSP00000419786:P978S;ENSP00000441452:P978S	.	P	+	1	0	RGAG1	109583433	0.034000	0.19679	0.025000	0.17156	0.028000	0.11728	0.540000	0.23191	0.990000	0.38787	0.600000	0.82982	CCG		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		4	186	0	0	0	1	0	4	186					T	109696777	C	T	109696777	3	4	222	1	0	0	0	0	1	0	0	0	13274	739	26	2	2934	2	RGAG1	23	109696777	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08	32787148	109696777	45573783	28	27576											
AGTR2	186	broad.mit.edu	37	chrX	115304314	115304314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaagatggcagctgctGttgttctggccttcatcatt	10	10	3	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:115304314G>C	ENST00000371906.4	+	3	971	c.781G>C	c.(781-783)Gtt>Ctt	p.V261L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	261					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	GGCAGCTGCTGTTGTTCTGGC	0.463																																						ENST00000371906.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(781-783)Gtt>Ctt		angiotensin II receptor, type 2							243	168	194					X																	115304314		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304314G>C	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.781G>C	X.37:g.115304314G>C	ENSP00000360973:p.Val261Leu						p.V261L	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	971	+			261					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.781G>C	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969776	0.53614	.	.	ENSG00000180772	ENST00000371906	T	0.42131	0.98	4.78	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.065300	0.64402	D	0.000009	T	0.48502	0.1503	L	0.52011	1.625	0.35468	D	0.797083	P	0.51240	0.943	P	0.59221	0.854	T	0.59343	-0.7472	10	0.72032	D	0.01	-12.3392	4.9885	0.14202	0.1073:0.0:0.6812:0.2115	.	261	P50052	AGTR2_HUMAN	L	261	ENSP00000360973:V261L	ENSP00000360973:V261L	V	+	1	0	AGTR2	115218342	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	4.405000	0.59741	0.982000	0.38575	0.506000	0.49869	GTT		0.463	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		27	55	0	0	0	1	0	27	55					C	115304314	G	C	115304314	3	2	222	1	0	0	0	0	1	0	0	0	402	1377	48	4	783	4	AGTR2	23	115304314	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	5607537	115304314	39966246	29	27577											
MAP7D3	79649	broad.mit.edu	37	chrX	135313000	135313000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaataagctgcttacttAgtgctgatgggagacggcag	14	7	0	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:135313000A>G	ENST00000316077.9	-	9	1759	c.1539T>C	c.(1537-1539)acT>acC	p.T513T	MAP7D3_ENST00000370663.5_Silent_p.T495T|MAP7D3_ENST00000370661.1_Silent_p.T478T|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	513					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)					CTGCTTACTTAGTGCTGATGG	0.393																																						ENST00000316077.9																			0				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						c.(1537-1539)acT>acC		MAP7 domain containing 3							153	131	138					X																	135313000		1975	4144	6119	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135313000A>G	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.1539T>C	X.37:g.135313000A>G						MAP7D3_ENST00000370663.5_Silent_p.T495T|MAP7D3_ENST00000370661.1_Silent_p.T478T	p.T513T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			9	1759	-	Acute lymphoblastic leukemia(192;0.000127)		513					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1539T>C	CCDS44004.1																																																																																				0.393	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			15	57	0	0	0	1	0	15	57					G	135313000	A	G	135313000	2	3	222	1	0	0	0	0	0	0	0	1	9269	407	15	3		3	MAP7D3	23	135313000	Silent	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	20008686	135313000	19957560	30	27578											
OR4F5	79501	broad.mit.edu	37	chr1	69557	69557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagccagttggcgtttgCcgtgcacttactcttctgtg	13	10	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:69557C>T	ENST00000335137.3	+	1	467	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(1)|ovary(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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|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)		TTGGCGTTTGCCGTGCACTTA	0.468																																						ENST00000335137.3																			0				lung(1)|ovary(1)	2						c.(466-468)gCc>gTc		olfactory receptor, family 4, subfamily F, member 5							193	128	152					1																	69557		1758	3035	4793	SO:0001583	missense	79501				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:69557C>T	AB065592	CCDS30547.1	1p36.33	2012-08-09			ENSG00000186092	ENSG00000186092		"GPCR / Class A : Olfactory receptors"	14825	protein-coding gene	gene with protein product							Standard	NM_001005484		Approved		uc001aal.1	Q8NH21	OTTHUMG00000001094	ENST00000335137.3:c.467C>T	1.37:g.69557C>T	ENSP00000334393:p.Ala156Val						p.A156V	NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|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)	1	467	+	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)	156					Q5VT22	Missense_Mutation	SNP	ENST00000335137.3	37	c.467C>T	CCDS30547.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.681254	0.00745	.	.	ENSG00000186092	ENST00000534990;ENST00000335137	T	0.00107	8.72	2.31	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.153769	0.29676	N	0.011493	T	0.00109	0.0003	N	0.03891	-0.335	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.53892	-0.8374	10	0.02654	T	1	.	5.576	0.17222	0.0:0.8227:0.0:0.1773	.	156	Q8NH21	OR4F5_HUMAN	V	204;156	ENSP00000334393:A156V	ENSP00000334393:A156V	A	+	2	0	OR4F5	59420	0.000000	0.05858	1.000000	0.80357	0.462000	0.32619	-0.449000	0.06812	1.232000	0.43678	0.398000	0.26397	GCC		0.468	OR4F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003223.1	NM_001005484		7	602	0	0	0	1	0	7	602					T	69557	C	T	69557	3	4	223	1	0	0	0	0	1	0	0	0	11065	739	26	2	469	2	OR4F5	1	69557	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		69557	249181064	1	27579											
GRHL3	57822	broad.mit.edu	37	chr1	24663605	24663605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgaaaacctccccggAacccccatgtccagaggact	7	16	0	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:24663605A>G	ENST00000350501.5	+	5	777	c.650A>G	c.(649-651)gAa>gGa	p.E217G	GRHL3_ENST00000361548.4_Missense_Mutation_p.E217G|GRHL3_ENST00000356046.2_Missense_Mutation_p.E171G|GRHL3_ENST00000236255.4_Missense_Mutation_p.E222G|GRHL3_ENST00000342072.4_Missense_Mutation_p.E124G	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	217					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACCTCCCCGGAACCCCCATGT	0.567																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(649-651)gAa>gGa		grainyhead-like 3 (Drosophila)							73	72	73					1																	24663605		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663605A>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.650A>G	1.37:g.24663605A>G	ENSP00000288955:p.Glu217Gly					GRHL3_ENST00000356046.2_Missense_Mutation_p.E171G|GRHL3_ENST00000236255.4_Missense_Mutation_p.E222G|GRHL3_ENST00000350501.5_Missense_Mutation_p.E217G|GRHL3_ENST00000342072.4_Missense_Mutation_p.E124G	p.E217G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	880	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	217					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.650A>G	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641349	0.47153	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12672	2.85;2.66;2.84;2.86;2.85	6.06	6.06	0.98353	.	0.559595	0.18344	N	0.144089	T	0.12689	0.0308	L	0.33485	1.01	0.43846	D	0.996435	B;B;B	0.27910	0.193;0.161;0.161	B;B;B	0.24701	0.055;0.053;0.033	T	0.13683	-1.0500	10	0.25106	T	0.35	-6.7496	15.7905	0.78357	1.0:0.0:0.0:0.0	.	171;222;217	A2A297;Q8TE85-2;G3XAF0	.;.;.	G	217;124;217;171;222	ENSP00000354943:E217G;ENSP00000340543:E124G;ENSP00000288955:E217G;ENSP00000348333:E171G;ENSP00000236255:E222G	ENSP00000236255:E222G	E	+	2	0	GRHL3	24536192	1.000000	0.71417	0.992000	0.48379	0.748000	0.42578	6.081000	0.71309	2.324000	0.78689	0.533000	0.62120	GAA		0.567	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		32	77	0	0	0	1	0	32	77					G	24663605	A	G	24663605	3	3	223	1	0	0	0	0	1	0	0	0	6765	246	9	3	704	3	GRHL3	1	24663605	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	24594048	24663605	224587016	2	27580											
SYTL1	84958	broad.mit.edu	37	chr1	27675627	27675627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagatcctgaggaggcGtcccaggcccaggaaggtga	15	11	1	3	rs537719164		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:27675627G>A	ENST00000543823.1	+	5	978	c.516G>A	c.(514-516)gcG>gcA	p.A172A	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.A160A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	172					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAGGAGGCGTCCCAGGCCC	0.612																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(514-516)gcG>gcA		synaptotagmin-like 1							76	80	78					1																	27675627		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27675627G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.516G>A	1.37:g.27675627G>A						SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.A160A	p.A172A			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	978	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	172					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.516G>A	CCDS53286.1																																																																																				0.612	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		36	75	0	0	0	1	0	36	75					A	27675627	G	A	27675627	2	1	223	1	0	0	0	0	0	0	0	1	15479	1132	40	1		1	SYTL1	1	27675627	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3012022	27675627	221574994	3	27581											
HORMAD1	84072	broad.mit.edu	37	chr1	150676784	150676784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcagggtttttttcCtgttcttccattttagtttc	8	7	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:150676784C>T	ENST00000361824.2	-	11	945	c.840G>A	c.(838-840)caG>caA	p.Q280Q	HORMAD1_ENST00000368995.4_Silent_p.Q200Q|HORMAD1_ENST00000368993.2_Silent_p.Q280Q|HORMAD1_ENST00000322343.7_Silent_p.Q273Q|RNU6-1042P_ENST00000384204.1_RNA	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	280					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTTTTTTCCTGTTCTTCCA	0.308																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(838-840)caG>caA		HORMA domain containing 1							64	54	58					1																	150676784		2202	4297	6499	SO:0001819	synonymous_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150676784C>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.840G>A	1.37:g.150676784C>T						HORMAD1_ENST00000322343.7_Silent_p.Q273Q|HORMAD1_ENST00000361824.2_Silent_p.Q280Q|HORMAD1_ENST00000368995.4_Silent_p.Q200Q	p.Q280Q			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		11	945	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|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)		280					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	ENST00000361824.2	37	c.840G>A	CCDS967.1																																																																																				0.308	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		27	71	0	0	0	1	0	27	71					T	150676784	C	T	150676784	2	4	223	1	0	0	0	0	0	0	0	1	7286	680	24	2		2	HORMAD1	1	150676784	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	123001157	150676784	98573837	4	27582											
SEC16B	89866	broad.mit.edu	37	chr1	177930832	177930832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctgagaccagactcaCgctgctggagaaggttggac	15	9	1	3	rs201675705		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:177930832C>T	ENST00000308284.6	-	6	769	c.680G>A	c.(679-681)cGt>cAt	p.R227H	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.R227H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	227					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.R227H(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCAGACTCACGCTGCTGGAG	0.512																																						ENST00000308284.6																			1	Substitution - Missense(1)	p.R227H(1)	endometrium(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(679-681)cGt>cAt		SEC16 homolog B (S. cerevisiae)		C	HIS/ARG	1,3941		0,1,1970	45	48	47		680	3.5	0.9	1		47	0,8312		0,0,4156	yes	missense	SEC16B	NM_033127.2	29	0,1,6126	TT,TC,CC		0.0,0.0254,0.0082	benign	227/1061	177930832	1,12253	1971	4156	6127	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177930832C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.680G>A	1.37:g.177930832C>T	ENSP00000308339:p.Arg227His					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.R227H|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R227H	p.R227H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			6	769	-			227					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.680G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299289	0.23650	2.54E-4	0.0	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.43294	2.52;0.95	5.79	3.45	0.39498	.	0.749959	0.13082	N	0.415239	T	0.13457	0.0326	N	0.00729	-1.24	0.37253	D	0.906643	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.10567	-1.0624	10	0.16420	T	0.52	-7.2985	8.5022	0.33165	0.0:0.1581:0.0:0.8419	.	227;227;227	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	H	227	ENSP00000308339:R227H;ENSP00000431727:R227H	ENSP00000308339:R227H	R	-	2	0	AL359075.1	176197455	0.977000	0.34250	0.940000	0.37924	0.370000	0.29829	1.894000	0.39768	0.441000	0.26529	-0.312000	0.09012	CGT		0.512	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		20	32	0	0	0	1	0	20	32					T	177930832	C	T	177930832	3	4	223	1	0	0	0	0	1	0	0	0	13987	536	19	1	2586	1	SEC16B	1	177930832	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	27254048	177930832	71319789	5	27583											
HMCN1	83872	broad.mit.edu	37	chr1	186114580	186114580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggggaacatgcagccGgacgtgtaacggagggcaga	18	8	0	1	rs141397809		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186114580G>A	ENST00000271588.4	+	92	14541	c.14312G>A	c.(14311-14313)cGg>cAg	p.R4771Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4771	TSP type-1 5. {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						ACATGCAGCCGGACGTGTAAC	0.552																																						ENST00000271588.4																			0				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						c.(14311-14313)cGg>cAg		hemicentin 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89	84	86		14312	3.6	0.9	1	dbSNP_134	86	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4771/5636	186114580	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114580G>A	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.14312G>A	1.37:g.186114580G>A	ENSP00000271588:p.Arg4771Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771Q	p.R4771Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			92	14541	+			4771			TSP type-1 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14312G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346819	0.82022	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.52526	0.66;0.66	5.43	3.57	0.40892	.	0.163209	0.52532	N	0.000073	T	0.46054	0.1373	L	0.33189	0.99	0.42021	D	0.990988	D	0.57571	0.98	P	0.51999	0.687	T	0.35847	-0.9772	10	0.42905	T	0.14	.	11.8015	0.52130	0.1416:0.0:0.8584:0.0	.	4771	Q96RW7	HMCN1_HUMAN	Q	4771	ENSP00000271588:R4771Q;ENSP00000356462:R4771Q	ENSP00000271588:R4771Q	R	+	2	0	HMCN1	184381203	1.000000	0.71417	0.926000	0.36857	0.879000	0.50718	5.135000	0.64777	0.680000	0.31366	-0.133000	0.14855	CGG		0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		42	56	0	0	0	1	0	42	56					A	186114580	G	A	186114580	3	1	223	1	0	0	0	0	1	0	0	0	7220	1116	39	1	14678	1	HMCN1	1	186114580	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	8183748	186114580	63136041	6	27584											
PRG4	10216	broad.mit.edu	37	chr1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggattctcagtactggcGttttaccaatgatataaaag	8	7	2	1	rs201785504		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186280588G>A	ENST00000445192.2	+	10	3698	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1218					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						CAGTACTGGCGTTTTACCAAT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		14970	0.001		0.0	False		,,,				2504	0.0					ENST00000445192.2																			0				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						c.(3652-3654)cGt>cAt		proteoglycan 4							80	93	89					1																	186280588		2202	4300	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280588G>A	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.3653G>A	1.37:g.186280588G>A	ENSP00000399679:p.Arg1218His					PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H	p.R1218H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			10	3698	+			1218			Hemopexin-like 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3653G>A	CCDS1369.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.78	2.933386	0.52866	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.000000	0.41823	D	0.000806	T	0.36331	0.0963	H	0.97131	3.945	0.47123	D	0.999329	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;0.999	T	0.58896	-0.7555	10	0.87932	D	0	-7.0976	18.551	0.91065	0.0:0.0:1.0:0.0	.	1084;1125;1218;1177	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1175;747;1177;1125;1218	ENSP00000356456:R1175H;ENSP00000356454:R747H;ENSP00000356453:R1177H;ENSP00000356455:R1125H;ENSP00000399679:R1218H	ENSP00000356453:R1177H	R	+	2	0	PRG4	184547211	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.083000	0.94067	2.453000	0.82957	0.585000	0.79938	CGT		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		69	171	0	0	0	1	0	69	171					A	186280588	G	A	186280588	3	1	223	1	0	0	0	0	1	0	0	0	12481	1145	40	1	3687	1	PRG4	1	186280588	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	166008	186280588	62970033	7	27585											
SLC35F3	148641	broad.mit.edu	37	chr1	234367197	234367197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggactccccgggcccggcGgaggcccaggcaccggccgg	18	18	0	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:234367197G>A	ENST00000366617.3	+	2	339	c.111G>A	c.(109-111)gcG>gcA	p.A37A	SLC35F3_ENST00000366618.3_Silent_p.A106A			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	37					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGGGCCCGGCGGAGGCCCAGG	0.736																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(316-318)gcG>gcA		solute carrier family 35, member F3							11	15	13					1																	234367197		2146	4169	6315	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234367197G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.111G>A	1.37:g.234367197G>A						SLC35F3_ENST00000366617.3_Silent_p.A37A	p.A106A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	463	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	37					Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.318G>A																																																																																					0.736	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		24	30	0	0	0	1	0	24	30					A	234367197	G	A	234367197	2	1	223	1	0	0	0	0	0	0	0	1	14590	1103	39	1		1	SLC35F3	1	234367197	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	48086609	234367197	14883424	8	27586											
ZP4	57829	broad.mit.edu	37	chr1	238053178	238053178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctttacctagaagatccAtaggacacttgagcagcttc	8	11	0	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:238053178A>G	ENST00000366570.4	-	3	547	c.389T>C	c.(388-390)aTg>aCg	p.M130T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	130					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAAGATCCATAGGACACTT	0.552																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(388-390)aTg>aCg		zona pellucida glycoprotein 4							224	227	226					1																	238053178		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053178A>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.389T>C	1.37:g.238053178A>G	ENSP00000355529:p.Met130Thr					RP11-193H5.1_ENST00000450451.1_RNA	p.M130T	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	547	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	130					B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.389T>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	A	9.435	1.086530	0.20390	.	.	ENSG00000116996	ENST00000366570	T	0.73681	-0.77	4.89	1.28	0.21552	.	1.278960	0.05375	N	0.536090	T	0.66665	0.2812	L	0.57536	1.79	0.09310	N	1	B	0.20164	0.042	B	0.15484	0.013	T	0.41179	-0.9523	10	0.22109	T	0.4	-0.0453	3.6635	0.08247	0.6049:0.1935:0.2016:0.0	.	130	Q12836	ZP4_HUMAN	T	130	ENSP00000355529:M130T	ENSP00000355529:M130T	M	-	2	0	ZP4	236119801	0.000000	0.05858	0.006000	0.13384	0.187000	0.23431	0.105000	0.15333	0.212000	0.20703	0.533000	0.62120	ATG		0.552	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			123	243	0	0	0	1	0	123	243					G	238053178	A	G	238053178	3	3	223	1	0	0	0	0	1	0	0	0	18215	217	8	3	1273	3	ZP4	1	238053178	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	3685981	238053178	11197443	9	27587											
OR14I1	401994	broad.mit.edu	37	chr1	248845349	248845349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagagatggagcttctgCgagtcagggagttacggatg	16	5	2	1	rs139712934		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:248845349C>T	ENST00000342623.3	-	1	280	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	86						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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGAGCTTCTGCGAGTCAGGGA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		22210	0.0		0.0	False		,,,				2504	0.001					ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(256-258)cGc>cAc		olfactory receptor, family 14, subfamily I, member 1		C	HIS/ARG	0,4406		0,0,2203	112	97	102		257	-2.1	0	1	dbSNP_134	102	2,8598		0,2,4298	no	missense	OR14I1	NM_001004734.1	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	86/312	248845349	2,13004	2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845349C>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.257G>A	1.37:g.248845349C>T	ENSP00000339726:p.Arg86His						p.R86H	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	280	-			86						Missense_Mutation	SNP	ENST00000342623.3	37	c.257G>A	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	1.587	-0.530131	0.04112	0.0	2.33E-4	ENSG00000189181	ENST00000342623	T	0.01347	4.99	3.48	-2.1	0.07210	GPCR, rhodopsin-like superfamily (1);	0.655790	0.13134	N	0.411204	T	0.00608	0.0020	N	0.02985	-0.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45323	-0.9269	10	0.14252	T	0.57	.	5.0013	0.14266	0.0:0.2181:0.1558:0.6261	.	86	A6ND48	O14I1_HUMAN	H	86	ENSP00000339726:R86H	ENSP00000339726:R86H	R	-	2	0	OR14I1	246911972	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.594000	0.05733	-0.719000	0.04942	-1.416000	0.01114	CGC		0.473	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		20	37	0	0	0	1	0	20	37					T	248845349	C	T	248845349	3	4	223	1	0	0	0	0	1	0	0	0	10947	768	27	1	682	1	OR14I1	1	248845349	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	10792171	248845349	405272	10	27588											
NCKAP5	344148	broad.mit.edu	37	chr2	133541329	133541329	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcatgagcagggcatcGggtttgaatgactgcttctg	17	7	1	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:133541329G>A	ENST00000409261.1	-	14	3428	c.3055C>T	c.(3055-3057)Cga>Tga	p.R1019*	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R1019*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1019										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						GCAGGGCATCGGGTTTGAATG	0.567																																						ENST00000409261.1																			0				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						c.(3055-3057)Cga>Tga		NCK-associated protein 5							34	37	36					2																	133541329		1934	4138	6072	SO:0001587	stop_gained	344148						protein binding	g.chr2:133541329G>A	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.3055C>T	2.37:g.133541329G>A	ENSP00000387128:p.Arg1019*					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R1019*	p.R1019*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3428	-			1019					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	ENST00000409261.1	37	c.3055C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	39	7.801141	0.98498	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	.	.	.	5.25	-2.34	0.06704	.	0.185227	0.23908	U	0.043379	.	.	.	.	.	.	0.37319	D	0.909453	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0012	0.41929	0.1147:0.0:0.4912:0.3941	.	.	.	.	X	1019	.	ENSP00000380603:R1019X	R	-	1	2	NCKAP5	133257799	0.219000	0.23619	0.025000	0.17156	0.156000	0.22039	0.312000	0.19397	-0.138000	0.11434	-0.266000	0.10368	CGA		0.567	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		19	36	0	0	0	1	0	19	36					A	133541329	G	A	133541329	4	1	223	1	0	0	0	0	0	1	0	0	10223	1124	39	1	2702	1	NCKAP5	2	133541329	Nonsense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		133541329	109658044	11	27589											
SCN2A	6326	broad.mit.edu	37	chr2	166246283	166246283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaaaatttgaaaaagaCaaatcagaaaaggaagacaa	7	3	1	5			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:166246283C>T	ENST00000375437.2	+	27	6257	c.5967C>T	c.(5965-5967)gaC>gaT	p.D1989D	SCN2A_ENST00000283256.6_Silent_p.D1989D|SCN2A_ENST00000375427.2_Silent_p.D1989D|SCN2A_ENST00000357398.3_Silent_p.D1989D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1989					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)	TTGAAAAAGACAAATCAGAAA	0.373																																						ENST00000357398.3																			0				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						c.(5965-5967)gaC>gaT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						29	31	30					2																	166246283		2200	4299	6499	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246283C>T	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.5967C>T	2.37:g.166246283C>T						SCN2A_ENST00000375437.2_Silent_p.D1989D|SCN2A_ENST00000375427.2_Silent_p.D1989D|SCN2A_ENST00000283256.6_Silent_p.D1989D	p.D1989D			Q99250	SCN2A_HUMAN			27	6257	+			1989					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.5967C>T	CCDS33314.1																																																																																				0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		32	59	0	0	0	1	0	32	59					T	166246283	C	T	166246283	2	4	223	1	0	0	0	0	0	0	0	1	13916	477	17	2		2	SCN2A	2	166246283	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	32704954	166246283	76953090	12	27590											
TTN	7273	broad.mit.edu	37	chr2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttctagtgcttcaaCgacatagtgtacaattctgc	6	10	3	0	rs201687390		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179423251C>T	ENST00000591111.1	-	277	82236	c.82012G>A	c.(82012-82014)Gtt>Att	p.V27338I	TTN_ENST00000589042.1_Missense_Mutation_p.V28979I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 99. {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)			AGTGCTTCAACGACATAGTGT	0.428																																						ENST00000589042.1																			0				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						c.(86935-86937)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,3790		0,2,1894	128	123	124		60316,60115,79231,59740	3	0.4	2		124	1,8267		0,1,4133	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,6027	TT,TC,CC		0.0121,0.0527,0.0249	benign,benign,benign,benign	20106/27119,20039/27052,26411/33424,19914/26927	179423251	3,12057	1896	4134	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423251C>T	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.82012G>A	2.37:g.179423251C>T	ENSP00000465570:p.Val27338Ile					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.V28979I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		327	87159	-			27338			Fibronectin type-III 111.		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	ENST00000591111.1	37	c.86935G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476783	0.26511	5.27E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.76	2.97	0.34412	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35422	0.0931	N	0.11560	0.145	0.28859	N	0.895597	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.28332	-1.0047	9	0.87932	D	0	.	5.8362	0.18609	0.0:0.5185:0.1253:0.3562	.	19914;20039;20106;27338	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26411;19914;20106;20039;19911	ENSP00000343764:V26411I;ENSP00000434586:V19914I;ENSP00000340554:V20106I;ENSP00000352154:V20039I	ENSP00000340554:V20106I	V	-	1	0	TTN	179131497	0.146000	0.22672	0.395000	0.26283	0.920000	0.55202	0.712000	0.25779	0.432000	0.26286	0.655000	0.94253	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	44	0	0	0	1	0	25	44					T	179423251	C	T	179423251	3	4	223	1	0	0	0	0	1	0	0	0	16732	536	19	1	21188	1	TTN	2	179423251	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	13176968	179423251	63776122	13	27591											
TTN	7273	broad.mit.edu	37	chr2	179650418	179650418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctagctgtgcgggggcGtttatccacatggactaatc	14	9	0	0	rs149155733		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179650418G>A	ENST00000591111.1	-	15	2646	c.2422C>T	c.(2422-2424)Cgc>Tgc	p.R808C	TTN_ENST00000589042.1_Missense_Mutation_p.R808C|TTN_ENST00000342175.6_Missense_Mutation_p.R762C|TTN_ENST00000359218.5_Missense_Mutation_p.R762C|TTN_ENST00000460472.2_Missense_Mutation_p.R762C|TTN_ENST00000342992.6_Missense_Mutation_p.R808C|TTN_ENST00000360870.5_Missense_Mutation_p.R808C			Q8WZ42	TITIN_HUMAN	titin	33639					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)			GTGCGGGGGCGTTTATCCACA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20895	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(2422-2424)Cgc>Tgc		titin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	215	205	209		2284,2422,2422,2284,2284	5.5	1	2	dbSNP_134	209	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	762/26927,808/33424,808/5605,762/27052,762/27119	179650418	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650418G>A	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.2422C>T	2.37:g.179650418G>A	ENSP00000465570:p.Arg808Cys					TTN_ENST00000591111.1_Missense_Mutation_p.R808C|TTN_ENST00000359218.5_Missense_Mutation_p.R762C|TTN_ENST00000342175.6_Missense_Mutation_p.R762C|TTN_ENST00000342992.6_Missense_Mutation_p.R808C|TTN_ENST00000360870.5_Missense_Mutation_p.R808C|TTN_ENST00000460472.2_Missense_Mutation_p.R762C	p.R808C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	2646	-			808					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	ENST00000591111.1	37	c.2422C>T		.	.	.	.	.	.	.	.	.	.	G	14.07	2.424596	0.43020	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64438	-0.1;0.14;0.13;0.12;0.22	5.51	5.51	0.81932	Ribonuclease H-like (1);	.	.	.	.	T	0.70587	0.3241	L	0.27053	0.805	0.36734	D	0.881862	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	P;P;P;P;D	0.69824	0.732;0.732;0.732;0.732;0.966	T	0.76605	-0.2898	9	0.87932	D	0	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	762;762;762;808;808	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	808;762;762;762;762;808	ENSP00000343764:R808C;ENSP00000434586:R762C;ENSP00000340554:R762C;ENSP00000352154:R762C;ENSP00000354117:R808C	ENSP00000340554:R762C	R	-	1	0	TTN	179358663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.538000	0.53597	2.738000	0.93877	0.655000	0.94253	CGC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	117	0	0	0	1	0	50	117					A	179650418	G	A	179650418	3	1	223	1	0	0	0	0	1	0	0	0	16732	1145	40	1	108958	1	TTN	2	179650418	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	227167	179650418	63548955	14	27592											
FGD5	152273	broad.mit.edu	37	chr3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtggcctggttcccGcggacaggaagaacaccagc	15	12	0	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					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						CCTGGTTCCCGCGGACAGGAA	0.642																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1417-1419)Gcg>Acg		FYVE, RhoGEF and PH domain containing 5							42	47	45					3																	14861995		1988	4153	6141	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861995G>A	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.1417G>A	3.37:g.14861995G>A	ENSP00000285046:p.Ala473Thr					FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	p.A473T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	1527	+			473					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1417G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113079	0.20795	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.74315	-0.83;-0.69	5.01	-5.58	0.02512	.	2.684210	0.01577	N	0.020854	T	0.40694	0.1127	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33854	-0.9852	10	0.44086	T	0.13	2.2389	2.6615	0.05028	0.4363:0.301:0.1636:0.0991	.	232;473	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	473;232	ENSP00000285046:A473T;ENSP00000445949:A232T	ENSP00000285046:A473T	A	+	1	0	FGD5	14836999	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.245000	0.08890	-1.022000	0.03346	-0.218000	0.12543	GCG		0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		33	67	0	0	0	1	0	33	67					A	14861995	G	A	14861995	3	1	223	1	0	0	0	0	1	0	0	0	5836	1087	38	1	1419	1	FGD5	3	14861995	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		14861995	183160435	15	27593											
MUC7	4589	broad.mit.edu	37	chr4	71347070	71347070	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaactacacaagctccaccAtcttcctcagctccaccaga	4	18	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:71347070A>G	ENST00000304887.5	+	3	799	c.609A>G	c.(607-609)ccA>ccG	p.P203P	MUC7_ENST00000456088.1_Silent_p.P203P|MUC7_ENST00000413702.1_Silent_p.P203P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	203	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAGCTCCACCATCTTCCTCAG	0.587																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(607-609)ccA>ccG		mucin 7, secreted							482	394	424					4																	71347070		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71347070A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.609A>G	4.37:g.71347070A>G						MUC7_ENST00000304887.5_Silent_p.P203P|MUC7_ENST00000456088.1_Silent_p.P203P	p.P203P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	897	+			203			Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.609A>G	CCDS3541.1																																																																																				0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	217	0	0	0	1	0	5	217					G	71347070	A	G	71347070	2	3	223	1	0	0	0	0	0	0	0	1	9981	204	8	3		3	MUC7	4	71347070	Silent	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		71347070	119807206	16	27594											
HSD17B11	51170	broad.mit.edu	37	chr4	88312103	88312103	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatgcccagctcctgtaatCagcacgatttcgccggtgac	9	15	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:88312103C>A	ENST00000358290.4	-	1	435	c.120G>T	c.(118-120)ctG>ctT	p.L40L	HSD17B11_ENST00000507286.1_Silent_p.L40L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	40					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTGTAATCAGCACGATTT	0.453																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(118-120)ctG>ctT		hydroxysteroid (17-beta) dehydrogenase 11							103	106	105					4																	88312103		2203	4300	6503	SO:0001819	synonymous_variant	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88312103C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.120G>T	4.37:g.88312103C>A						HSD17B11_ENST00000507286.1_Silent_p.L40L	p.L40L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	1	435	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	40					Q96HF6|Q9UKU4	Silent	SNP	ENST00000358290.4	37	c.120G>T	CCDS3619.1																																																																																				0.453	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		54	116	1	0	6.4308e-24	1	6.49447e-24	54	116					A	88312103	C	A	88312103	2	1	223	1	0	0	0	0	0	0	0	1	7380	813	29	4		4	HSD17B11	4	88312103	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	16965033	88312103	102842173	17	27595											
ENPEP	2028	broad.mit.edu	37	chr4	111427803	111427803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaatagcttacaatttAtgtccagccagagcaaaagc	7	8	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:111427803A>G	ENST00000265162.5	+	4	1271	c.929A>G	c.(928-930)tAt>tGt	p.Y310C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	310					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)		CTTACAATTTATGTCCAGCCA	0.294																																						ENST00000265162.5																			0				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						c.(928-930)tAt>tGt		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						58	57	57					4																	111427803		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111427803A>G	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.929A>G	4.37:g.111427803A>G	ENSP00000265162:p.Tyr310Cys						p.Y310C	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	4	1271	+		Hepatocellular(203;0.217)	310					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.929A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.897224	0.72639	.	.	ENSG00000138792	ENST00000265162	T	0.05025	3.51	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.162163	0.56097	D	0.000022	T	0.28962	0.0719	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02829	-1.1105	10	0.87932	D	0	.	16.1524	0.81632	1.0:0.0:0.0:0.0	.	310	Q07075	AMPE_HUMAN	C	310	ENSP00000265162:Y310C	ENSP00000265162:Y310C	Y	+	2	0	ENPEP	111647252	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	6.066000	0.71185	2.223000	0.72356	0.533000	0.62120	TAT		0.294	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			34	57	0	0	0	1	0	34	57					G	111427803	A	G	111427803	3	3	223	1	0	0	0	0	1	0	0	0	5128	449	16	3	943	3	ENPEP	4	111427803	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	23115700	111427803	79726473	18	27596											
RANBP3L	202151	broad.mit.edu	37	chr5	36301465	36301465	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagcttcagtttacaGgtgtgcaaactgccaggcag	11	11	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:36301465G>T	ENST00000296604.3	-	1	539	c.54C>A	c.(52-54)acC>acA	p.T18T	RANBP3L_ENST00000515759.1_Silent_p.T18T|RANBP3L_ENST00000502994.1_Silent_p.T18T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	18					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TCAGTTTACAGGTGTGCAAAC	0.527																																						ENST00000296604.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16						c.(52-54)acC>acA		RAN binding protein 3-like							165	153	157					5																	36301465		2203	4300	6503	SO:0001819	synonymous_variant	202151				intracellular transport			g.chr5:36301465G>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.54C>A	5.37:g.36301465G>T						RANBP3L_ENST00000502994.1_Silent_p.T18T|RANBP3L_ENST00000515759.1_Silent_p.T18T	p.T18T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		1	539	-	all_lung(31;4.52e-05)		18					B7Z866|E9PGP9|Q96LK2	Silent	SNP	ENST00000296604.3	37	c.54C>A	CCDS3918.1																																																																																				0.527	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		59	120	1	0	3.00467e-41	1	3.06476e-41	59	120					T	36301465	G	T	36301465	2	4	223	1	0	0	0	0	0	0	0	1	13030	987	35	4		4	RANBP3L	5	36301465	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		36301465	144613795	19	27597											
PLCXD3	345557	broad.mit.edu	37	chr5	41382519	41382519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgagtggctaaccatttcCgcatgagctttttggccaca	9	11	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:41382519C>T	ENST00000377801.3	-	2	295	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R74Q			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	74	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAACCATTTCCGCATGAGCTT	0.468																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(220-222)cGg>cAg		phosphatidylinositol-specific phospholipase C, X domain containing 3							58	64	62					5																	41382519		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382519C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.221G>A	5.37:g.41382519C>T	ENSP00000367032:p.Arg74Gln					PLCXD3_ENST00000328457.3_Missense_Mutation_p.R74Q	p.R74Q			Q63HM9	PLCX3_HUMAN			2	295	-			74			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.221G>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360065	0.82353	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.043894	0.85682	D	0.000000	T	0.72542	0.3473	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.64149	-0.6475	9	0.21540	T	0.41	-13.5761	20.6593	0.99626	0.0:1.0:0.0:0.0	.	74	Q63HM9	PLCX3_HUMAN	Q	74	.	ENSP00000333751:R74Q	R	-	2	0	PLCXD3	41418276	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.661000	0.61518	2.885000	0.99019	0.655000	0.94253	CGG		0.468	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		45	92	0	0	0	1	0	45	92					T	41382519	C	T	41382519	3	4	223	1	0	0	0	0	1	0	0	0	12043	652	23	1	752	1	PLCXD3	5	41382519	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	5081054	41382519	139532741	20	27598											
GPBP1	65056	broad.mit.edu	37	chr5	56542308	56542308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgctgctccacctacAaaagtaagttctaaattacc	4	12	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:56542308A>G	ENST00000506184.2	+	7	1765	c.660A>G	c.(658-660)acA>acG	p.T220T	GPBP1_ENST00000424459.3_Silent_p.T240T|GPBP1_ENST00000514387.2_Silent_p.T49T|GPBP1_ENST00000454432.2_Silent_p.T240T|GPBP1_ENST00000264779.6_Silent_p.T227T|GPBP1_ENST00000511209.1_Silent_p.T227T|GPBP1_ENST00000538707.1_Silent_p.T227T			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	220					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTCCACCTACAAAAGTAAGTT	0.373																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(718-720)acA>acG		GC-rich promoter binding protein 1							40	43	42					5																	56542308		2196	4296	6492	SO:0001819	synonymous_variant	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56542308A>G		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.660A>G	5.37:g.56542308A>G						GPBP1_ENST00000514387.2_Silent_p.T49T|GPBP1_ENST00000454432.2_Silent_p.T240T|GPBP1_ENST00000506184.2_Silent_p.T220T|GPBP1_ENST00000511209.1_Silent_p.T227T|GPBP1_ENST00000538707.1_Silent_p.T227T|GPBP1_ENST00000264779.6_Silent_p.T227T	p.T240T	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	8	1994	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	220					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	37	c.720A>G	CCDS34162.1																																																																																				0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		18	39	0	0	0	1	0	18	39					G	56542308	A	G	56542308	2	3	223	1	0	0	0	0	0	0	0	1	6595	117	5	3		3	GPBP1	5	56542308	Silent	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	15159789	56542308	124372952	21	27599											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857255	140857255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtgtcatccttagtgccCctagactatgaggatcggcg	11	10	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:140857255C>T	ENST00000308177.3	+	1	1676	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTAGTGCCCCTAGACTATG	0.488																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1570-1572)ccC>ccT									49	52	51					5																	140857255		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140857255C>T	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1572C>T	5.37:g.140857255C>T						PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P524P	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1676	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1572C>T	CCDS4261.1																																																																																				0.488	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		38	91	0	0	0	1	0	38	91					T	140857255	C	T	140857255	2	4	223	1	0	0	0	0	0	0	0	1	11569	610	22	2		2	PCDHGC3	5	140857255	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	84314947	140857255	40058005	22	27600											
KIF4B	285643	broad.mit.edu	37	chr5	154397004	154397004	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttttgacctcccagagtcGaaacatggagcaacagaata	8	11	0	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:154397004G>A	ENST00000435029.4	+	1	3745	c.3585G>A	c.(3583-3585)tcG>tcA	p.S1195S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	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)			TCCCAGAGTCGAAACATGGAG	0.507																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(3583-3585)tcG>tcA		kinesin family member 4B							53	58	57					5																	154397004		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154397004G>A	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.3585G>A	5.37:g.154397004G>A							p.S1195S	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3745	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1195			Globular (By similarity).|Interaction with PRC1 (By similarity).			Silent	SNP	ENST00000435029.4	37	c.3585G>A	CCDS47324.1																																																																																				0.507	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			19	53	0	0	0	1	0	19	53					A	154397004	G	A	154397004	2	1	223	1	0	0	0	0	0	0	0	1	8304	1045	37	1		1	KIF4B	5	154397004	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	13539749	154397004	26518256	23	27601											
ATP10B	23120	broad.mit.edu	37	chr5	160042950	160042950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaactggcccatctccGgaagtcctcttcgcttacaa	8	15	2	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:160042950G>A	ENST00000327245.5	-	17	3394	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	850					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)			GCCCATCTCCGGAAGTCCTCT	0.517																																						ENST00000327245.5																			0				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						c.(2548-2550)Cgg>Tgg		ATPase, class V, type 10B							56	56	56					5																	160042950		1934	4126	6060	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160042950G>A	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.2548C>T	5.37:g.160042950G>A	ENSP00000313600:p.Arg850Trp					CTC-348L5.1_ENST00000523598.1_RNA	p.R850W	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	3394	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	850					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2548C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614123	0.66672	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.66460	-0.21;-0.21	5.64	2.68	0.31781	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.873574	0.09867	N	0.745380	T	0.71953	0.3401	M	0.72894	2.215	0.18873	N	0.999988	D;D	0.67145	0.983;0.996	P;P	0.51229	0.545;0.663	T	0.59375	-0.7466	9	.	.	.	.	9.6549	0.39919	0.0:0.131:0.4642:0.4048	.	458;850	Q2YDW8;O94823	.;AT10B_HUMAN	W	850;458	ENSP00000313600:R850W;ENSP00000431081:R458W	.	R	-	1	2	ATP10B	159975528	0.859000	0.29813	0.701000	0.30321	0.880000	0.50808	1.241000	0.32743	0.708000	0.31955	0.655000	0.94253	CGG		0.517	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		33	66	0	0	0	1	0	33	66					A	160042950	G	A	160042950	3	1	223	1	0	0	0	0	1	0	0	0	1117	1115	39	1	1877	1	ATP10B	5	160042950	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	5645946	160042950	20872310	24	27602											
MUC21	394263	broad.mit.edu	37	chr6	30954953	30954953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccaccaactctgAgtccagcacgacctccagtg	8	17	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:30954953A>G	ENST00000376296.3	+	2	1242	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1000-1002)gAg>gGg		mucin 21, cell surface associated							139	140	139					6																	30954953		2202	4296	6498	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954953A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1001A>G	6.37:g.30954953A>G	ENSP00000365473:p.Glu334Gly					MUC21_ENST00000486149.2_5'UTR	p.E334G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1242	+			334			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1001A>G	CCDS34388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.86|10.86	1.469256|1.469256	0.26423|0.26423	.|.	.|.	ENSG00000204544|ENSG00000204544	ENST00000450707|ENST00000376296	.|T	.|0.01613	.|4.73	4.44|4.44	-8.89|-8.89	0.00785|0.00785	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00241	.|0.0007	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	.|T	.|0.48614	.|-0.9020	.|8	.|.	.|.	.|.	.|3.5	0.6308|0.6308	0.00794|0.00794	0.3354:0.207:0.2691:0.1885|0.3354:0.207:0.2691:0.1885	.|.	.|334	.|Q5SSG8	.|MUC21_HUMAN	.|G	-1|334	.|ENSP00000365473:E334G	.|.	.|E	+|+	.|2	.|0	MUC21|MUC21	31062932|31062932	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-3.807000|-3.807000	0.00361|0.00361	-2.230000|-2.230000	0.00719|0.00719	0.482000|0.482000	0.46254|0.46254	.|GAG		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	455	0	0	0	1	0	5	455					G	30954953	A	G	30954953	3	3	223	1	0	0	0	0	1	0	0	0	9977	304	11	3	1007	3	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		30954953	140160114	25	27603											
GRM4	2914	broad.mit.edu	37	chr6	34029770	34029770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcctgccttgggctcccGtggtatcttcaccgactggg	12	15	2	0	rs572550212		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:34029770G>A	ENST00000538487.2	-	4	1215	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	GRM4_ENST00000374177.3_Missense_Mutation_p.R189W|GRM4_ENST00000535756.1_Missense_Mutation_p.R125W|GRM4_ENST00000544773.2_Missense_Mutation_p.R89W|GRM4_ENST00000455714.2_Missense_Mutation_p.R118W|GRM4_ENST00000609222.1_Missense_Mutation_p.R125W|GRM4_ENST00000374181.4_Missense_Mutation_p.R258W|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	258					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGGGCTCCCGTGGTATCTTC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20889	0.0		0.0	False		,,,				2504	0.001					ENST00000545715.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48								glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						109	95	100					6																	34029770		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34029770G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.772C>T	6.37:g.34029770G>A	ENSP00000440556:p.Arg258Trp					GRM4_ENST00000535756.1_Missense_Mutation_p.R125W|GRM4_ENST00000455714.2_Missense_Mutation_p.R118W|GRM4_ENST00000374181.3_Missense_Mutation_p.R258W|GRM4_ENST00000374177.3_Missense_Mutation_p.R189W|GRM4_ENST00000538487.1_Missense_Mutation_p.R258W|GRM4_ENST00000544773.1_Missense_Mutation_p.R89W				Q14833	GRM4_HUMAN			0	325	-								B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Translation_Start_Site	SNP	ENST00000538487.2	37		CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253244	0.80135	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	4.01	3.05	0.35203	Extracellular ligand-binding receptor (1);	0.072735	0.51477	D	0.000092	D	0.90714	0.7086	M	0.90977	3.165	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.995;0.998;1.0;1.0;0.998	P;D;D;D;D	0.76071	0.848;0.932;0.971;0.987;0.932	D	0.91513	0.5228	10	0.56958	D	0.05	.	13.1764	0.59629	0.0:0.0:0.8401:0.1599	.	258;89;118;258;125	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	W	258;189;125;89;258;118	ENSP00000363296:R258W;ENSP00000363292:R189W;ENSP00000437925:R125W;ENSP00000437730:R89W;ENSP00000440556:R258W;ENSP00000398456:R118W	ENSP00000363292:R189W	R	-	1	2	GRM4	34137748	1.000000	0.71417	0.927000	0.36925	0.841000	0.47740	3.104000	0.50306	2.219000	0.72066	0.530000	0.56133	CGG		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			43	84	0	0	0	1	0	43	84					A	34029770	G	A	34029770	3	1	223	1	0	0	0	0	1	0	0	0	6799	1144	40	1	1998	1	GRM4	6	34029770	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3074817	34029770	137085297	26	27604											
C6orf138	442213	broad.mit.edu	37	chr6	47846053	47846053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctcatactgtggtgaCgtgatccgggttctcttgaa	10	11	2	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:47846053C>T	ENST00000339488.4	-	3	2560	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	843						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ACTGTGGTGACGTGATCCGGG	0.453																																						ENST00000339488.4																			0											c.(2527-2529)Gtc>Atc		patched domain containing 4							153	156	155					6																	47846053		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846053C>T		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.2527G>A	6.37:g.47846053C>T	ENSP00000341914:p.Val843Ile						p.V843I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2560	-			843					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2527G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336091	0.24253	.	.	ENSG00000244694	ENST00000339488	D	0.92495	-3.05	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	N	0.02916	-0.46	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.81883	-0.0728	10	0.02654	T	1	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	843	Q6ZW05	CF138_HUMAN	I	843	ENSP00000341914:V843I	ENSP00000341914:V843I	V	-	1	0	C6orf138	47954012	1.000000	0.71417	0.986000	0.45419	0.959000	0.62525	7.175000	0.77632	2.850000	0.98022	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		68	183	0	0	0	1	0	68	183					T	47846053	C	T	47846053	3	4	223	1	0	0	0	0	1	0	0	0	2332	536	19	1	17	1	C6orf138	6	47846053	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	13816283	47846053	123269014	27	27605											
C7orf70	84792	broad.mit.edu	37	chr7	6370435	6370435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaacaccactgcaggaCacccgagcaaaacactctgt	7	15	2	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:6370435C>T	ENST00000313324.4	-	2	818	c.351G>A	c.(349-351)gtG>gtA	p.V117V	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	117						nucleus (GO:0005634)											CACTGCAGGACACCCGAGCAA	0.597																																						ENST00000313324.4																			0											c.(349-351)gtG>gtA		family with sequence similarity 220, member A							46	47	47					7																	6370435		2203	4300	6503	SO:0001819	synonymous_variant	84792					nucleus		g.chr7:6370435C>T	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"STAT3-interacting protein as a repressor"		"chromosome 7 open reading frame 70"	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.351G>A	7.37:g.6370435C>T							p.V117V	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	818	-			117					Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	ENST00000313324.4	37	c.351G>A	CCDS34599.1																																																																																				0.597	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		27	96	0	0	0	1	0	27	96					T	6370435	C	T	6370435	2	4	223	1	0	0	0	0	0	0	0	1	2415	465	17	2		2	C7orf70	7	6370435	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		6370435	152768228	28	27606											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	13	9	0	2	rs149840192		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.A289V(20)|p.A289D(3)		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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	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						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		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.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		7	1043	+	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)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		701	96	0	0	0	1	0	701	96					T	55221822	C	T	55221822	3	4	223	1	0	0	0	0	1	0	0	0	4967	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	48851387	55221822	103916841	29	27607											
EGFR	1956	broad.mit.edu	37	chr7	55273104	55273104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtatctcaacactgtcCagcccacctgtgtcaacagc	7	16	2	0	rs145189325		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55273104C>T	ENST00000275493.2	+	28	3604	c.3427C>T	c.(3427-3429)Cag>Tag	p.Q1143*	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q1090*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1143					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)	CAACACTGTCCAGCCCACCTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(3427-3429)Cag>Tag		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						110	88	95					7																	55273104		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55273104C>T		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.3427C>T	7.37:g.55273104C>T	ENSP00000275493:p.Gln1143*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q1090*|EGFR_ENST00000442591.1_Intron	p.Q1143*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		28	3604	+	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)		1143					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.3427C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876575	0.97055	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.34	3.53	0.40419	.	0.638593	0.17992	N	0.155189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	9.9931	0.41883	0.0:0.7848:0.1392:0.0761	.	.	.	.	X	1013;1143;1090	.	ENSP00000275493:Q1143X	Q	+	1	0	EGFR	55240598	0.196000	0.23350	0.001000	0.08648	0.002000	0.02628	2.839000	0.48207	0.744000	0.32741	0.558000	0.71614	CAG		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		741	119	0	0	0	1	0	741	119					T	55273104	C	T	55273104	4	4	223	1	0	0	0	0	0	1	0	0	4967	595	21	2	3801	2	EGFR	7	55273104	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	51282	55273104	103865559	30	27608											
SEPT14	346288	broad.mit.edu	37	chr7	55902220	55902220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattatcttattcttaaaCgtctgtaaatcatttttaga	3	7	5	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55902220C>T	ENST00000388975.3	-	6	734	c.618G>A	c.(616-618)acG>acA	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.T206T(1)		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)			TATTCTTAAACGTCTGTAAAT	0.348																																						ENST00000388975.3																			1	Substitution - coding silent(1)	p.T206T(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(616-618)acG>acA		septin 14							106	98	101					7																	55902220		2203	4300	6503	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55902220C>T	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.618G>A	7.37:g.55902220C>T							p.T206T	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	734	-	Breast(14;0.214)		206					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.618G>A	CCDS5519.2																																																																																				0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		19	68	0	0	0	1	0	19	68					T	55902220	C	T	55902220	2	4	223	1	0	0	0	0	0	0	0	1	14063	523	19	1		1	SEPT14	7	55902220	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	629116	55902220	103236443	31	27609											
GPR20	2843	broad.mit.edu	37	chr8	142367776	142367776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgagggtgtcttggccCgggtgcggcagcagaagacg	18	9	1	4	rs370181787		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr8:142367776C>T	ENST00000377741.3	-	2	338	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	83					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTCTTGGCCCGGGTGCGGCA	0.652																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(247-249)cGg>cAg		G protein-coupled receptor 20		C	GLN/ARG	0,4406		0,0,2203	98	97	97		248	-4.2	0	8		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR20	NM_005293.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	83/359	142367776	1,13005	2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367776C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.248G>A	8.37:g.142367776C>T	ENSP00000366970:p.Arg83Gln						p.R83Q	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	338	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		83					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.248G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	5.597	0.294934	0.10622	0.0	1.16E-4	ENSG00000204882	ENST00000377741	T	0.72615	-0.67	4.82	-4.24	0.03777	GPCR, rhodopsin-like superfamily (1);	0.671525	0.13211	N	0.405199	T	0.49983	0.1589	N	0.17278	0.47	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27905	-1.0060	10	0.39692	T	0.17	-1.3832	12.7793	0.57469	0.0:0.3469:0.0:0.6531	.	83	Q99678	GPR20_HUMAN	Q	83	ENSP00000366970:R83Q	ENSP00000366970:R83Q	R	-	2	0	GPR20	142436958	0.001000	0.12720	0.013000	0.15412	0.083000	0.17756	-0.402000	0.07223	-0.740000	0.04803	-1.149000	0.01842	CGG		0.652	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		20	71	0	0	0	1	0	20	71					T	142367776	C	T	142367776	3	4	223	1	0	0	0	0	1	0	0	0	6680	652	23	1	832	1	GPR20	8	142367776	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		142367776	3996246	32	27610											
C9orf71	169693	broad.mit.edu	37	chr9	71155541	71155541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgctttcagtcacctggcGatagttgctccagaaaattc	8	10	2	1	rs533109920		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:71155541G>A	ENST00000377311.3	-	1	242	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	64						integral component of membrane (GO:0016021)											GTCACCTGGCGATAGTTGCTC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19413	0.0		0.0	False		,,,				2504	0.001					ENST00000377311.3																			0											c.(190-192)Cgc>Tgc		transmembrane protein 252							73	64	67					9																	71155541		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71155541G>A	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 71"	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.190C>T	9.37:g.71155541G>A	ENSP00000366528:p.Arg64Cys						p.R64C	NM_153237.1	NP_694969.1					1	242	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.190C>T	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307233	0.60305	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	-0.427	0.12310	.	0.602886	0.16955	N	0.192705	T	0.47563	0.1452	M	0.62723	1.935	0.41378	D	0.987533	B	0.21381	0.055	B	0.14578	0.011	T	0.33929	-0.9849	9	0.87932	D	0	-0.0659	4.9425	0.13973	0.2579:0.0:0.516:0.2261	.	64	Q8N6L7	CI071_HUMAN	C	64	.	ENSP00000366528:R64C	R	-	1	0	C9orf71	70345361	1.000000	0.71417	0.844000	0.33320	0.576000	0.36127	3.481000	0.53179	-0.344000	0.08338	-0.302000	0.09304	CGC		0.552	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		16	38	0	0	0	1	0	16	38					A	71155541	G	A	71155541	3	1	223	1	0	0	0	0	1	0	0	0	2494	1058	37	1	330	1	C9orf71	9	71155541	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		71155541	70057890	33	27611											
SLC28A3	64078	broad.mit.edu	37	chr9	86903095	86903095	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgggaggatggaaccTgcaatttcagaagaaagaag	13	5	1	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:86903095T>A	ENST00000376238.4	-	12	1199		c.e12-2		SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GGATGGAACCTGCAATTTCAG	0.468																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e12-2		solute carrier family 28 (concentrative nucleoside transporter), member 3							117	118	118					9																	86903095		2203	4300	6503	SO:0001630	splice_region_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86903095T>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1150-2A>T	9.37:g.86903095T>A						RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Splice_Site		NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			12	1199	-								A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Splice_Site	SNP	ENST00000376238.4	37		CCDS6670.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021834	0.75275	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0664	0.80878	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC28A3	86092915	1.000000	0.71417	0.994000	0.49952	0.736000	0.42039	5.822000	0.69265	2.254000	0.74563	0.459000	0.35465	.		0.468	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	Intron	65	112	0	0	0	1	0	65	112					A	86903095	T	A	86903095	5	1	223	1	0	0	0	0	0	0	1	0	14533	1594	55	5	955	5	SLC28A3	9	86903095	Splice_Site	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08	15747554	86903095	54310336	34	27612											
COL15A1	1306	broad.mit.edu	37	chr9	101748113	101748113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatctacctgggcctgCggctctcaggtgtggaggac	15	11	3	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:101748113C>T	ENST00000375001.3	+	3	790	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	123	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)				CCTGGGCCTGCGGCTCTCAGG	0.632																																						ENST00000375001.3																			0				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						c.(367-369)Cgg>Tgg		collagen, type XV, alpha 1							72	69	70					9																	101748113		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748113C>T	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.367C>T	9.37:g.101748113C>T	ENSP00000364140:p.Arg123Trp						p.R123W	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	790	+		Acute lymphoblastic leukemia(62;0.0562)	123			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.367C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945200	0.53079	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.74002	-0.8	5.25	3.05	0.35203	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.339351	0.30649	N	0.009161	T	0.81702	0.4878	M	0.64997	1.995	0.32936	D	0.517776	D;D	0.89917	0.999;1.0	D;D	0.71870	0.91;0.975	D	0.85657	0.1286	10	0.87932	D	0	-10.2132	10.5768	0.45231	0.5162:0.4837:0.0:0.0	.	123;93	P39059;B3KTP7	COFA1_HUMAN;.	W	123;93	ENSP00000364140:R123W	ENSP00000364140:R123W	R	+	1	2	COL15A1	100787934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.268000	0.51585	1.300000	0.44818	0.650000	0.86243	CGG		0.632	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		4	127	0	0	0	1	0	4	127					T	101748113	C	T	101748113	3	4	223	1	0	0	0	0	1	0	0	0	3672	759	27	1	377	1	COL15A1	9	101748113	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	14845018	101748113	39465318	35	27613											
RXRA	6256	broad.mit.edu	37	chr9	137309089	137309089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacgaggacatgccggtGgagaggatcctggaggctga	17	9	0	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:137309089G>A	ENST00000481739.1	+	5	748	c.696G>A	c.(694-696)gtG>gtA	p.V232V	RXRA_ENST00000540193.1_Silent_p.V135V|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	232	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	ACATGCCGGTGGAGAGGATCC	0.647																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(403-405)gtG>gtA		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						149	113	125					9																	137309089		2203	4300	6503	SO:0001819	synonymous_variant	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137309089G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.696G>A	9.37:g.137309089G>A						RXRA_ENST00000481739.1_Silent_p.V232V|RXRA_ENST00000356384.4_3'UTR	p.V135V			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	1328	+			232					B3KY83|Q2NL52|Q2V504	Silent	SNP	ENST00000481739.1	37	c.405G>A	CCDS35172.1																																																																																				0.647	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		39	78	0	0	0	1	0	39	78					A	137309089	G	A	137309089	2	1	223	1	0	0	0	0	0	0	0	1	13763	1335	47	2		2	RXRA	9	137309089	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	35560976	137309089	3904342	36	27614											
QSOX2	169714	broad.mit.edu	37	chr9	139108552	139108552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacagcttcttgactggcGgccgtccagggaacagctgc	12	14	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:139108552G>A	ENST00000358701.5	-	9	1140	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	368					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)	p.P368L(1)		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)		CTTGACTGGCGGCCGTCCAGG	0.642																																						ENST00000358701.5																			1	Substitution - Missense(1)	p.P368L(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1102-1104)cCg>cTg		quiescin Q6 sulfhydryl oxidase 2							62	58	60					9																	139108552		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139108552G>A	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.1103C>T	9.37:g.139108552G>A	ENSP00000351536:p.Pro368Leu						p.P368L	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	9	1140	-		Myeloproliferative disorder(178;0.0511)	368					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1103C>T	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	g	4.320	0.058795	0.08339	.	.	ENSG00000165661	ENST00000358701;ENST00000389471	T	0.16324	2.35	4.45	-0.161	0.13371	.	0.522319	0.20872	N	0.084153	T	0.18635	0.0447	M	0.81942	2.565	0.09310	N	0.999999	B	0.16603	0.018	B	0.09377	0.004	T	0.19321	-1.0309	10	0.49607	T	0.09	-14.2821	6.7379	0.23419	0.179:0.0:0.6211:0.1999	.	368	Q6ZRP7	QSOX2_HUMAN	L	368;167	ENSP00000351536:P368L	ENSP00000351536:P368L	P	-	2	0	QSOX2	138248373	0.345000	0.24835	0.001000	0.08648	0.017000	0.09413	0.875000	0.28079	0.333000	0.23563	-0.298000	0.09462	CCG		0.642	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		29	78	0	0	0	1	0	29	78					A	139108552	G	A	139108552	3	1	223	1	0	0	0	0	1	0	0	0	12884	1116	39	1	1009	1	QSOX2	9	139108552	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	1799463	139108552	2104879	37	27615											
HECTD2	143279	broad.mit.edu	37	chr10	93185044	93185044	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttttctgttttcagggtttgGacagaggagccaaaggccaa	12	7	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:93185044G>C	ENST00000298068.5	+	2	239	c.145G>C	c.(145-147)Gac>Cac	p.D49H	HECTD2_ENST00000371681.4_Missense_Mutation_p.D49H|HECTD2_ENST00000446394.1_Missense_Mutation_p.D49H	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	49					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCAGGGTTTGGACAGAGGAGC	0.348																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(145-147)Gac>Cac		HECT domain containing E3 ubiquitin protein ligase 2							56	57	57					10																	93185044		2203	4299	6502	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93185044G>C	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.145G>C	10.37:g.93185044G>C	ENSP00000298068:p.Asp49His					HECTD2_ENST00000371681.4_Missense_Mutation_p.D49H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D49H	p.D49H			Q5U5R9	HECD2_HUMAN			2	245	+			49					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.145G>C	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978677	0.74360	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.51817	1.11;0.69;1.12	5.38	5.38	0.77491	.	0.067156	0.56097	D	0.000024	T	0.64649	0.2617	L	0.50333	1.59	0.80722	D	1	P;P;D	0.89917	0.914;0.914;1.0	P;P;D	0.74023	0.674;0.674;0.982	T	0.65804	-0.6079	10	0.72032	D	0.01	.	18.2696	0.90064	0.0:0.0:1.0:0.0	.	49;49;49	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	H	49	ENSP00000401023:D49H;ENSP00000360746:D49H;ENSP00000298068:D49H	ENSP00000298068:D49H	D	+	1	0	HECTD2	93175024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.634000	0.74290	2.689000	0.91719	0.655000	0.94253	GAC		0.348	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			38	32	0	0	0	1	0	38	32					C	93185044	G	C	93185044	3	2	223	1	0	0	0	0	1	0	0	0	7040	1174	41	4	151	4	HECTD2	10	93185044	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		93185044	42349703	38	27616											
SORCS1	114815	broad.mit.edu	37	chr10	108357142	108357142	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatggacaaggactcGgactcctggcttcagctcga	12	12	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:108357142G>A	ENST00000263054.6	-	24	3239	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.R613*|SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R1078*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1078					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R1078*(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACAAGGACTCGGACTCCTGGC	0.507																																						ENST00000263054.6																			3	Substitution - Nonsense(3)	p.R1078*(3)	prostate(3)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(3232-3234)Cga>Tga		sortilin-related VPS10 domain containing receptor 1							154	138	144					10																	108357142		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108357142G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3232C>T	10.37:g.108357142G>A	ENSP00000263054:p.Arg1078*					SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R1078*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.R613*	p.R1078*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	24	3239	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1078					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.3232C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	40	8.236257	0.98719	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.71	5.71	0.89125	.	0.412228	0.25402	N	0.030938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5528	15.1136	0.72380	0.0:0.0:0.8578:0.1422	.	.	.	.	X	613;1078;1078	.	.	R	-	1	2	SORCS1	108347132	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	4.394000	0.59671	2.697000	0.92050	0.655000	0.94253	CGA		0.507	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		9	24	0	0	0	1	0	9	24					A	108357142	G	A	108357142	4	1	223	1	0	0	0	0	0	1	0	0	14930	1124	39	1	520	1	SORCS1	10	108357142	Nonsense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	15172098	108357142	27177605	39	27617											
MUC5B	727897	broad.mit.edu	37	chr11	1267410	1267410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacccctcctccactccGgagaccacccacacctccac	3	24	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:1267410G>A	ENST00000529681.1	+	31	9358	c.9300G>A	c.(9298-9300)ccG>ccA	p.P3100P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3103P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3100	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)		CCTCCACTCCGGAGACCACCC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9307-9309)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							74	101	92					11																	1267410		2106	4207	6313	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267410G>A	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.9300G>A	11.37:g.1267410G>A						MUC5B_ENST00000529681.1_Silent_p.P3100P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3103P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9367	+		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)	3100	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9309G>A	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		54	134	0	0	0	1	0	54	134					A	1267410	G	A	1267410	2	1	223	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1267410	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		1267410	133739106	40	27618											
ALX4	60529	broad.mit.edu	37	chr11	44286677	44286677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgggtcgcaggggaccacGcaggctggcactggtgaggc	18	12	0	1	rs561018820		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:44286677G>A	ENST00000329255.3	-	4	1066	c.963C>T	c.(961-963)tgC>tgT	p.C321C		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	321					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGGGACCACGCAGGCTGGCA	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		15668	0.001		0.0	False		,,,				2504	0.0					ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(961-963)tgC>tgT		ALX homeobox 4							20	20	20					11																	44286677		2194	4279	6473	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44286677G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.963C>T	11.37:g.44286677G>A							p.C321C	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1066	-			321					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.963C>T	CCDS31468.1																																																																																				0.677	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			21	40	0	0	0	1	0	21	40					A	44286677	G	A	44286677	2	1	223	1	0	0	0	0	0	0	0	1	558	1079	38	1		1	ALX4	11	44286677	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	43019267	44286677	90719839	41	27619											
RAPSN	5913	broad.mit.edu	37	chr11	47469404	47469404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaggctgcagcacacgCggcactcgagcatggcgtca	13	15	1	0	rs374588028		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:47469404C>T	ENST00000298854.2	-	2	704	c.491G>A	c.(490-492)cGc>cAc	p.R164H	RAPSN_ENST00000529341.1_Missense_Mutation_p.R164H|RAPSN_ENST00000352508.3_Missense_Mutation_p.R164H|RAPSN_ENST00000524487.1_Missense_Mutation_p.R164H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	164			R -> C (in CMS-ACHRD; reduced coclustering with acetylcholine receptor). {ECO:0000269|PubMed:16931511}.		positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCAGCACACGCGGCACTCGAG	0.632																																						ENST00000298854.2																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(490-492)cGc>cAc		receptor-associated protein of the synapse		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	39	31	33		491,491	5.1	1	11		33	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	RAPSN	NM_005055.4,NM_032645.4	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	164/413,164/354	47469404	1,12995	2201	4297	6498	SO:0001583	missense	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47469404C>T		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.491G>A	11.37:g.47469404C>T	ENSP00000298854:p.Arg164His					RAPSN_ENST00000529341.1_Missense_Mutation_p.R164H|RAPSN_ENST00000524487.1_Missense_Mutation_p.R164H|RAPSN_ENST00000352508.3_Missense_Mutation_p.R164H	p.R164H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN			2	704	-			164		R -> C (in CMS-ACHRD; reduced coclustering with acetylcholine receptor).			Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	c.491G>A	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831264	0.91036	0.0	1.16E-4	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	T;T;T;T	0.74002	-0.8;1.17;1.19;1.17	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049610	0.85682	D	0.000000	T	0.76004	0.3927	L	0.27053	0.805	0.58432	D	0.999999	P;D;D	0.58970	0.931;0.966;0.984	B;P;P	0.55871	0.34;0.707;0.786	T	0.78290	-0.2261	10	0.54805	T	0.06	-26.1831	18.9738	0.92725	0.0:1.0:0.0:0.0	.	164;164;164	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	H	164	ENSP00000298854:R164H;ENSP00000298853:R164H;ENSP00000435551:R164H;ENSP00000431732:R164H	ENSP00000298854:R164H	R	-	2	0	RAPSN	47425980	1.000000	0.71417	0.960000	0.40013	0.464000	0.32679	7.307000	0.78920	2.565000	0.86533	0.557000	0.71058	CGC		0.632	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			8	22	0	0	0	1	0	8	22					T	47469404	C	T	47469404	3	4	223	1	0	0	0	0	1	0	0	0	13051	768	27	1	775	1	RAPSN	11	47469404	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	3182727	47469404	87537112	42	27620											
GPR44	11251	broad.mit.edu	37	chr11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-													gagcgggcggtggaggaggtGcggcggcggcggctgcttcc							TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		5	9						5	9	---	---	---	---	-	60620169	GCG	-	60620167	7	5	223	1	0	1	0	1	0	0	0	0	6695	1306	46	0	162	0	GPR44	11	60620167	In_Frame_Del	DEL	GCG	TCGA-FG-A70Z-01A-12D-A33T-08	13150763	60620167	74386349	43	27621											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201678	67201678	+	Frame_Shift_Del	DEL	T	T	-													tctacctacagagacatcccTttttccggcacatgaattgg							TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:67201678delT	ENST00000312629.5	+	12	1024	c.979delT	c.(979-981)tttfs	p.F328fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGACATCCCTTTTTCCGGCA	0.632																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(979-981)ttfs		ribosomal protein S6 kinase, 70kDa, polypeptide 2							260	290	280					11																	67201678		2075	4199	6274	SO:0001589	frameshift_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201678delT	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.979delT	11.37:g.67201678delT	ENSP00000308413:p.Phe328fs					AP003419.16_ENST00000535922.1_RNA	p.F328fs	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1024	+			328			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Frame_Shift_Del	DEL	ENST00000312629.5	37	c.979delT	CCDS41677.1																																																																																				0.632	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		8	789						8	789	---	---	---	---	-	67201678	T	-	67201678	7	5	223	1	0	1	0	1	0	0	0	0	13657	1609	56	0	1025	0	RPS6KB2	11	67201678	Frame_Shift_Del	DEL	T	TCGA-FG-A70Z-01A-12D-A33T-08	6581511	67201678	67804838	44	27622											
RPS3	6188	broad.mit.edu	37	chr11	75113439	75113439	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagaggtctgtgtgccattgCccaggcagagtctctgcgtt	13	10	2	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:75113439C>G	ENST00000531188.1	+	4	361	c.299C>G	c.(298-300)gCc>gGc	p.A100G	RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000530164.1_Missense_Mutation_p.A100G|SNORD15A_ENST00000384214.1_RNA|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_Missense_Mutation_p.A88G|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000527446.1_Missense_Mutation_p.A100G|RPS3_ENST00000278572.6_Missense_Mutation_p.A116G|RPS3_ENST00000524851.1_Missense_Mutation_p.A100G	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	100					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGTGCCATTGCCCAGGCAGAG	0.458																																						ENST00000531188.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(298-300)gCc>gGc		ribosomal protein S3							115	110	112					11																	75113439		2200	4293	6493	SO:0001583	missense	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75113439C>G		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"S ribosomal proteins"	10420	protein-coding gene	gene with protein product	"IMR-90 ribosomal protein S3", "40S ribosomal protein S3"	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.299C>G	11.37:g.75113439C>G	ENSP00000434643:p.Ala100Gly					RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000530164.1_Missense_Mutation_p.A100G|RPS3_ENST00000278572.6_Missense_Mutation_p.A116G|RPS3_ENST00000526608.1_Missense_Mutation_p.A88G|RPS3_ENST00000524851.1_Missense_Mutation_p.A100G|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Missense_Mutation_p.A100G	p.A100G	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN			4	361	+			100					B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	c.299C>G	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961457|3.961457	0.74016|0.74016	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851|ENST00000527273	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	K Homology (1);K Homology, prokaryotic type (1);Ribosomal protein S3, C-terminal (2);K Homology, type 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84777|0.84777	0.5547|0.5547	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.12837|.	0.008|.	D|D	0.88028|0.88028	0.2773|0.2773	9|6	0.87932|0.87932	D|D	0|0	-12.6631|-12.6631	16.156|16.156	0.81666|0.81666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	100|.	P23396|.	RS3_HUMAN|.	G|W	100;100;100;116;100;88;100|81	.|.	ENSP00000278572:A116G|ENSP00000435457:C81W	A|C	+|+	2|3	0|2	RPS3|RPS3	74791087|74791087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	7.651000|7.651000	0.83577|0.83577	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.458	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		65	134	0	0	0	1	0	65	134					G	75113439	C	G	75113439	3	3	223	1	0	0	0	0	1	0	0	0	13643	739	26	4	313	4	RPS3	11	75113439	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	7911761	75113439	59893077	45	27623											
APOA4	337	broad.mit.edu	37	chr11	116691769	116691769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcaagtggccttccacGtcccccgcatgggggcccag	12	16	1	0	rs545034382		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:116691769G>A	ENST00000357780.3	-	3	1119	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	335					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGCCTTCCACGTCCCCCGCAT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20071	0.001		0.0	False		,,,				2504	0.0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1003-1005)gaC>gaT		apolipoprotein A-IV							74	68	70					11																	116691769		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116691769G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.1005C>T	11.37:g.116691769G>A							p.D335D	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	1119	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.1005C>T	CCDS31681.1																																																																																				0.577	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		54	91	0	0	0	1	0	54	91					A	116691769	G	A	116691769	2	1	223	1	0	0	0	0	0	0	0	1	783	1136	40	1		1	APOA4	11	116691769	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	41578330	116691769	18314747	46	27624											
TMTC1	83857	broad.mit.edu	37	chr12	29904597	29904597	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaacccagcccagtAcctcatcatggaccacacag	6	16	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:29904597A>C	ENST00000539277.1	-	5	997		c.e5+1		TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000256062.5_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ccagcccagtacctcatcatg	0.567																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.e5+1		transmembrane and tetratricopeptide repeat containing 1							117	102	107					12																	29904597		2203	4300	6503	SO:0001630	splice_region_variant	83857					integral to membrane	binding	g.chr12:29904597A>C		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.938+1T>G	12.37:g.29904597A>C						TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site		NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			5	1088	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)							D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Splice_Site	SNP	ENST00000539277.1	37		CCDS53772.1																																																																																				0.567	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	Intron	26	68	0	0	0	1	0	26	68					C	29904597	A	C	29904597	5	2	223	1	0	0	0	0	0	0	1	0	16257	405	14	5	1764	5	TMTC1	12	29904597	Splice_Site	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		29904597	103947298	47	27625											
ADAMTS20	80070	broad.mit.edu	37	chr12	43884232	43884232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttagatgaacaaatGtcttcccttaaaataaaaga	4	7	2	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:43884232G>A	ENST00000389420.3	-	7	1082	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ADAMTS20_ENST00000553158.1_Silent_p.D361D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGAACAAATGTCTTCCCTTA	0.229																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1081-1083)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							17	19	19					12																	43884232		2132	4199	6331	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43884232G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1083C>T	12.37:g.43884232G>A						ADAMTS20_ENST00000553158.1_Silent_p.D361D	p.D361D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	7	1082	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	361			Peptidase M12B.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1083C>T	CCDS31778.2																																																																																				0.229	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	16	0	0	0	1	0	5	16					A	43884232	G	A	43884232	2	1	223	1	0	0	0	0	0	0	0	1	266	1368	48	2		2	ADAMTS20	12	43884232	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	13979635	43884232	89967663	48	27626											
BIN2	51411	broad.mit.edu	37	chr12	51717863	51717863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgaagaggccggccgcGccgcctgccttgccctctgc	14	17	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:51717863G>A	ENST00000267012.4	-	1	85	c.24C>T	c.(22-24)ggC>ggT	p.G8G	BIN2_ENST00000452142.2_Silent_p.G8G|BIN2_ENST00000604560.1_Silent_p.G8G|BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000544402.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	8					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						GGCCGGCCGCGCCGCCTGCCT	0.706																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(22-24)ggC>ggT		bridging integrator 2							21	23	22					12																	51717863		2188	4277	6465	SO:0001819	synonymous_variant	51411					cytoplasm	protein binding	g.chr12:51717863G>A	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.24C>T	12.37:g.51717863G>A						BIN2_ENST00000604560.1_Silent_p.G8G|BIN2_ENST00000452142.2_Silent_p.G8G|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000603260.1_5'UTR	p.G8G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN			1	85	-			8					Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	c.24C>T	CCDS8811.1																																																																																				0.706	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			28	71	0	0	0	1	0	28	71					A	51717863	G	A	51717863	2	1	223	1	0	0	0	0	0	0	0	1	1433	1074	38	1		1	BIN2	12	51717863	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	7833631	51717863	82134032	49	27627											
MARS	4141	broad.mit.edu	37	chr12	57894183	57894183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcaactgcgatgtgagCactgtgctcgcttcctggct	13	11	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:57894183C>T	ENST00000262027.5	+	10	1305	c.1171C>T	c.(1171-1173)Cac>Tac	p.H391Y	MARS_ENST00000315473.5_Missense_Mutation_p.H157Y|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	391					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)	GCGATGTGAGCACTGTGCTCG	0.567																																						ENST00000262027.5																			0				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						c.(1171-1173)Cac>Tac		methionyl-tRNA synthetase	L-Methionine(DB00134)						247	198	214					12																	57894183		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57894183C>T	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.1171C>T	12.37:g.57894183C>T	ENSP00000262027:p.His391Tyr					MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.H157Y	p.H391Y	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		10	1305	+			391					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1171C>T	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106392	0.37145	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000548944	T;T	0.43294	1.55;0.95	5.35	3.47	0.39725	Aminoacyl-tRNA synthetase, class I (M) (1);	0.831499	0.11302	N	0.578100	T	0.37972	0.1023	L	0.31294	0.92	0.19300	N	0.999974	B;B;B	0.24368	0.009;0.102;0.0	B;B;B	0.33121	0.003;0.158;0.016	T	0.43065	-0.9414	10	0.72032	D	0.01	3.8689	12.8021	0.57593	0.5469:0.4531:0.0:0.0	.	157;264;391	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	Y	391;157;15	ENSP00000262027:H391Y;ENSP00000314653:H157Y	ENSP00000262027:H391Y	H	+	1	0	MARS	56180450	0.004000	0.15560	0.419000	0.26584	0.965000	0.64279	0.263000	0.18478	0.694000	0.31654	0.563000	0.77884	CAC		0.567	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		69	1005	0	0	0	1	0	69	1005					T	57894183	C	T	57894183	3	4	223	1	0	0	0	0	1	0	0	0	9316	710	25	2	1209	2	MARS	12	57894183	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	6176320	57894183	75957712	50	27628											
USP15	9958	broad.mit.edu	37	chr12	62777762	62777762	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatacaattaaaagatgcaGatggaaggccagataaggta	10	4	0	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62777762G>A	ENST00000280377.5	+	10	1289	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	USP15_ENST00000353364.3_Missense_Mutation_p.D382N|USP15_ENST00000393654.3_Missense_Mutation_p.D386N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	411	USP.				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)		AAAAGATGCAGATGGAAGGCC	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1231-1233)Gat>Aat		ubiquitin specific peptidase 15							80	82	81					12																	62777762		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777762G>A	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.1231G>A	12.37:g.62777762G>A	ENSP00000280377:p.Asp411Asn					USP15_ENST00000393654.3_Missense_Mutation_p.D386N|USP15_ENST00000353364.3_Missense_Mutation_p.D382N	p.D411N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	10	1289	+			411					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1231G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873143	0.17322	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30182	4.15;4.15;1.54	5.4	5.4	0.78164	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053826	0.64402	D	0.000001	T	0.28034	0.0691	L	0.37630	1.12	0.58432	D	0.999998	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.003	T	0.04281	-1.0963	9	.	.	.	-21.1592	19.3716	0.94490	0.0:0.0:1.0:0.0	.	411;382	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	N	382;411;386	ENSP00000258123:D382N;ENSP00000280377:D411N;ENSP00000377264:D386N	.	D	+	1	0	USP15	61064029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.805000	0.96524	0.655000	0.94253	GAT		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		19	383	0	0	0	1	0	19	383					A	62777762	G	A	62777762	3	1	223	1	0	0	0	0	1	0	0	0	17043	942	33	2	1178	2	USP15	12	62777762	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	4883579	62777762	71074133	51	27629											
USP15	9958	broad.mit.edu	37	chr12	62778055	62778055	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttggaagtttacttagttaGaatggatccacttaccaaac	7	8	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62778055G>C	ENST00000280377.5	+	11	1503	c.1445G>C	c.(1444-1446)aGa>aCa	p.R482T	USP15_ENST00000353364.3_Missense_Mutation_p.R453T|USP15_ENST00000393654.3_Missense_Mutation_p.R457T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	482	USP.				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)		TACTTAGTTAGAATGGATCCA	0.313																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1444-1446)aGa>aCa		ubiquitin specific peptidase 15							71	65	67					12																	62778055		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62778055G>C	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.1445G>C	12.37:g.62778055G>C	ENSP00000280377:p.Arg482Thr					USP15_ENST00000393654.3_Missense_Mutation_p.R457T|USP15_ENST00000353364.3_Missense_Mutation_p.R453T	p.R482T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	11	1503	+			482					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1445G>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062273	0.76187	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19806	2.12;2.16;2.12	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.206543	0.51477	D	0.000095	T	0.25269	0.0614	L	0.31804	0.96	0.80722	D	1	B;P	0.38565	0.146;0.637	B;P	0.46299	0.099;0.511	T	0.01393	-1.1366	9	.	.	.	-19.3005	18.8461	0.92208	0.0:0.0:1.0:0.0	.	482;453	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	T	453;482;457	ENSP00000258123:R453T;ENSP00000280377:R482T;ENSP00000377264:R457T	.	R	+	2	0	USP15	61064322	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.690000	0.91761	0.655000	0.94253	AGA		0.313	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		9	203	0	0	0	1	0	9	203					C	62778055	G	C	62778055	3	2	223	1	0	0	0	0	1	0	0	0	17043	942	33	4	1396	4	USP15	12	62778055	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	293	62778055	71073840	52	27630											
KCNC2	3747	broad.mit.edu	37	chr12	75601452	75601452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagacgcccgggtgccggtcGaagaagaactcgcggccgcc	15	14	0	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:75601452G>A	ENST00000549446.1	-	2	992	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNC2_ENST00000540018.1_Silent_p.F104F|KCNC2_ENST00000350228.2_Silent_p.F104F|KCNC2_ENST00000550433.1_Silent_p.F104F|KCNC2_ENST00000393288.2_Silent_p.F104F|KCNC2_ENST00000298972.1_Silent_p.F104F|KCNC2_ENST00000548513.1_Silent_p.F104F|KCNC2_ENST00000341669.3_Silent_p.F104F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	104					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGTGCCGGTCGAAGAAGAACT	0.716																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(310-312)ttC>ttT		potassium voltage-gated channel, Shaw-related subfamily, member 2							13	16	15					12																	75601452		2200	4294	6494	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601452G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.312C>T	12.37:g.75601452G>A						KCNC2_ENST00000540018.1_Silent_p.F104F|KCNC2_ENST00000548513.1_Silent_p.F104F|KCNC2_ENST00000393288.2_Silent_p.F104F|KCNC2_ENST00000350228.2_Silent_p.F104F|KCNC2_ENST00000550433.1_Silent_p.F104F|KCNC2_ENST00000341669.3_Silent_p.F104F|KCNC2_ENST00000298972.1_Silent_p.F104F	p.F104F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	992	-			104					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.312C>T	CCDS9007.1																																																																																				0.716	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		10	20	0	0	0	1	0	10	20					A	75601452	G	A	75601452	2	1	223	1	0	0	0	0	0	0	0	1	8015	1049	37	1		1	KCNC2	12	75601452	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	12823397	75601452	58250443	53	27631											
WDHD1	11169	broad.mit.edu	37	chr14	55429521	55429521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcagcatcttcttcaActtgatttctgaaccttggt	6	11	5	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:55429521A>G	ENST00000360586.3	-	20	2647	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	WDHD1_ENST00000421192.1_Missense_Mutation_p.V738A|WDHD1_ENST00000420358.2_Missense_Mutation_p.V738A|WDHD1_ENST00000359167.4_Missense_Mutation_p.V379A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	861					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATCTTCTTCAACTTGATTTCT	0.368																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2581-2583)gTt>gCt		WD repeat and HMG-box DNA binding protein 1							258	255	256					14																	55429521		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429521A>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2582T>C	14.37:g.55429521A>G	ENSP00000353793:p.Val861Ala					WDHD1_ENST00000421192.1_Missense_Mutation_p.V738A|WDHD1_ENST00000420358.2_Missense_Mutation_p.V738A|WDHD1_ENST00000359167.4_Missense_Mutation_p.V379A	p.V861A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			20	2647	-			861					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2582T>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	A	9.529	1.110412	0.20714	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.61980	0.44;0.92;0.06	5.25	1.39	0.22231	.	1.437660	0.04177	N	0.325909	T	0.50803	0.1637	L	0.56769	1.78	0.27988	N	0.935794	B;B	0.27450	0.141;0.179	B;B	0.24006	0.05;0.036	T	0.18429	-1.0337	10	0.08837	T	0.75	.	1.3895	0.02247	0.5358:0.1147:0.1578:0.1917	.	379;861	F8W7P7;O75717	.;WDHD1_HUMAN	A	861;379;738	ENSP00000353793:V861A;ENSP00000352085:V379A;ENSP00000391049:V738A	ENSP00000352085:V379A	V	-	2	0	WDHD1	54499271	0.804000	0.28969	0.997000	0.53966	0.890000	0.51754	0.747000	0.26290	0.334000	0.23590	0.374000	0.22700	GTT		0.368	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		111	258	0	0	0	1	0	111	258					G	55429521	A	G	55429521	3	3	223	1	0	0	0	0	1	0	0	0	17268	43	2	3	835	3	WDHD1	14	55429521	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		55429521	51920019	54	27632											
AHNAK2	113146	broad.mit.edu	37	chr14	105413442	105413442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgctctcggggcctggacGtccacctccatgctggacag	12	14	1	0	rs374954299		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:105413442G>A	ENST00000333244.5	-	7	8465	c.8346C>T	c.(8344-8346)gaC>gaT	p.D2782D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2782						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)			GGGCCTGGACGTCCACCTCCA	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18839	0.0		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8344-8346)gaC>gaT		AHNAK nucleoprotein 2		A		0,3744		0,0,1872	133	147	142		8346	0.3	0	14		142	1,8165		0,1,4082	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,5954	AA,AG,GG		0.0122,0.0,0.0084		2782/5796	105413442	1,11909	1872	4083	5955	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413442G>A	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.8346C>T	14.37:g.105413442G>A						AHNAK2_ENST00000557457.1_Intron	p.D2782D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8465	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2782					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8346C>T	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		158	338	0	0	0	1	0	158	338					A	105413442	G	A	105413442	2	1	223	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105413442	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	49983921	105413442	1936098	55	27633											
TJP1	7082	broad.mit.edu	37	chr15	30053922	30053922	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgcctttagacctttctatCaatgtctttgcatctgtcaa	5	10	5	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr15:30053922C>G	ENST00000346128.6	-	7	1218	c.744G>C	c.(742-744)ttG>ttC	p.L248F	TJP1_ENST00000495972.2_Missense_Mutation_p.L248F|TJP1_ENST00000545208.2_Missense_Mutation_p.L248F|TJP1_ENST00000400011.2_Missense_Mutation_p.L252F|TJP1_ENST00000356107.6_Missense_Mutation_p.L248F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	248	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACCTTTCTATCAATGTCTTTG	0.338																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(742-744)ttG>ttC		tight junction protein 1							87	84	85					15																	30053922		1864	4100	5964	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30053922C>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.744G>C	15.37:g.30053922C>G	ENSP00000281537:p.Leu248Phe					TJP1_ENST00000356107.6_Missense_Mutation_p.L248F|TJP1_ENST00000545208.2_Missense_Mutation_p.L248F|TJP1_ENST00000400011.2_Missense_Mutation_p.L252F|TJP1_ENST00000495972.2_Missense_Mutation_p.L248F	p.L248F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	7	1218	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	248			PDZ 2.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.744G>C	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759988	0.69763	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.82	3.74	0.42951	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.69762	0.3147	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.993;0.986;1.0	D;D;D;D	0.91635	0.979;0.943;0.921;0.999	T	0.72074	-0.4400	9	.	.	.	.	4.2581	0.10728	0.0:0.5536:0.0:0.4464	.	241;248;248;252	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	248;252;248;248;248	ENSP00000281537:L248F;ENSP00000382890:L252F;ENSP00000441202:L248F;ENSP00000348416:L248F	.	L	-	3	2	TJP1	27841214	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.472000	0.45136	1.475000	0.48197	0.561000	0.74099	TTG		0.338	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		31	53	0	0	0	1	0	31	53					G	30053922	C	G	30053922	3	3	223	1	0	0	0	0	1	0	0	0	15926	825	29	4	4590	4	TJP1	15	30053922	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		30053922	72477470	56	27634											
SLC7A5	8140	broad.mit.edu	37	chr16	87871512	87871512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcatggagaggatggagGgcaggtggccttcccgggac	19	8	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr16:87871512G>A	ENST00000261622.4	-	7	1144	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Missense_Mutation_p.P94L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	360					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)	GAGGATGGAGGGCAGGTGGCC	0.647																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1078-1080)cCc>cTc		solute carrier family 7 (amino acid transporter light chain, L system), member 5							122	98	106					16																	87871512		2197	4299	6496	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87871512G>A	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.1079C>T	16.37:g.87871512G>A	ENSP00000261622:p.Pro360Leu					SLC7A5_ENST00000565644.1_Missense_Mutation_p.P94L	p.P360L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	7	1144	-			360					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1079C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353671	0.82243	.	.	ENSG00000103257	ENST00000261622	D	0.94966	-3.57	4.58	4.58	0.56647	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97222	0.9092	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97725	1.0199	10	0.56958	D	0.05	.	16.4277	0.83824	0.0:0.0:1.0:0.0	.	360	Q01650	LAT1_HUMAN	L	360	ENSP00000261622:P360L	ENSP00000261622:P360L	P	-	2	0	SLC7A5	86429013	1.000000	0.71417	0.923000	0.36655	0.467000	0.32768	9.495000	0.97964	2.101000	0.63845	0.456000	0.33151	CCC		0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		4	5	0	0	0	1	0	4	5					A	87871512	G	A	87871512	3	1	223	1	0	0	0	0	1	0	0	0	14700	1232	43	2	460	2	SLC7A5	16	87871512	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		87871512	2483241	57	27635											
RNF112	7732	broad.mit.edu	37	chr17	19318138	19318138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaagggaagcgagcccGttgctgcctcttgcctgccc	13	15	1	0	rs577137511	byFrequency	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:19318138G>A	ENST00000461366.1	+	10	1279	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	355	GB1/RHD3-type G.					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						AAGCGAGCCCGTTGCTGCCTC	0.617													.|||	2	0.000399361	0.0	0.0	5008	,	,		17770	0.002		0.0	False		,,,				2504	0.0					ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1063-1065)cGt>cAt		ring finger protein 112							43	55	51					17																	19318138		2162	4250	6412	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19318138G>A	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.1064G>A	17.37:g.19318138G>A	ENSP00000454919:p.Arg355His						p.R355H	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			10	1279	+			355					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1064G>A	CCDS58529.1																																																																																				0.617	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		17	36	0	0	0	1	0	17	36					A	19318138	G	A	19318138	3	1	223	1	0	0	0	0	1	0	0	0	13426	1145	40	1	812	1	RNF112	17	19318138	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		19318138	61877072	58	27636											
GGNBP2	79893	broad.mit.edu	37	chr17	34941754	34941754	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacttcatagaaaatagcAgctgcaaagcctgtggcagc	10	10	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:34941754A>T	ENST00000304718.4	+	10	1556	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	414					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)		AGAAAATAGCAGCTGCAAAGC	0.378																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(1240-1242)Agc>Tgc		gametogenetin binding protein 2							88	91	90					17																	34941754		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34941754A>T	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.1240A>T	17.37:g.34941754A>T	ENSP00000307617:p.Ser414Cys						p.S414C	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	10	1556	+		Breast(25;0.00957)|Ovarian(249;0.17)	414					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1240A>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016761	0.75161	.	.	ENSG00000005955	ENST00000304718	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.50497	0.1619	N	0.19112	0.55	0.80722	D	1	D;D;P	0.67145	0.996;0.969;0.891	P;P;B	0.56514	0.8;0.73;0.417	T	0.54248	-0.8322	8	0.54805	T	0.06	-9.3851	10.4761	0.44665	0.9279:0.0:0.0721:0.0	.	414;414;414	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	C	414	.	ENSP00000307617:S414C	S	+	1	0	GGNBP2	32015867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.090000	0.57693	2.371000	0.80710	0.533000	0.62120	AGC		0.378	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		55	111	0	0	0	1	0	55	111					T	34941754	A	T	34941754	3	4	223	1	0	0	0	0	1	0	0	0	6359	188	7	5	1274	5	GGNBP2	17	34941754	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	15623616	34941754	46253456	59	27637											
KRT25	147183	broad.mit.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	13	12	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1			keratin 25									p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562																																						ENST00000312150.4																			1	Substitution - Missense(1)	p.A339V(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gCg>gTg		keratin 25							138	140	139					17																	38906791		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906791G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1016C>T	17.37:g.38906791G>A	ENSP00000310573:p.Ala339Val						p.A339V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1076	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1016C>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629144	0.67015	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88896	-2.44	5.52	5.52	0.82312	Filament (1);	0.213774	0.33040	N	0.005356	D	0.86012	0.5831	L	0.45352	1.415	0.09310	N	1	P	0.43542	0.81	B	0.40444	0.329	T	0.82354	-0.0499	10	0.72032	D	0.01	.	15.7677	0.78141	0.0:0.0:0.8633:0.1367	.	339	Q7Z3Z0	K1C25_HUMAN	V	268;339	ENSP00000310573:A339V	ENSP00000310573:A339V	A	-	2	0	KRT25	36160317	0.243000	0.23878	0.929000	0.37066	0.713000	0.41058	3.072000	0.50049	2.566000	0.86566	0.655000	0.94253	GCG		0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		120	243	0	0	0	1	0	120	243					A	38906791	G	A	38906791	3	1	223	1	0	0	0	0	1	0	0	0	8462	1087	38	1	348	1	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3965037	38906791	42288419	60	27638											
SLC6A16	28968	broad.mit.edu	37	chr19	49793874	49793874	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcacggtgcttgagtcCcaggacatgtaggtgatcgg	15	9	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr19:49793874C>T	ENST00000335875.4	-	11	2170	c.1929G>A	c.(1927-1929)tgG>tgA	p.W643*	SLC6A16_ENST00000454748.3_Nonsense_Mutation_p.W643*	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	643					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGCTTGAGTCCCAGGACATGT	0.522																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1927-1929)tgG>tgA		solute carrier family 6, member 16							42	40	40					19																	49793874		1931	4130	6061	SO:0001587	stop_gained	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49793874C>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1929G>A	19.37:g.49793874C>T	ENSP00000338627:p.Trp643*					SLC6A16_ENST00000335875.4_Nonsense_Mutation_p.W643*	p.W643*			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	11	2130	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	643					Q8IYV4|Q9Y5I9	Nonsense_Mutation	SNP	ENST00000335875.4	37	c.1929G>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989911	0.93106	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4914	0.67654	0.0:1.0:0.0:0.0	.	.	.	.	X	643	.	ENSP00000338627:W643X	W	-	3	0	SLC6A16	54485686	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	3.108000	0.50337	2.697000	0.92050	0.609000	0.83330	TGG		0.522	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		15	30	0	0	0	1	0	15	30					T	49793874	C	T	49793874	4	4	223	1	0	0	0	0	0	1	0	0	14679	624	22	2	289	2	SLC6A16	19	49793874	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		49793874	9335109	61	27639											
LAMA5	3911	broad.mit.edu	37	chr20	60909090	60909090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggttcagcctggccacgatCctgggctgggtgggcatgga	17	10	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr20:60909090C>A	ENST00000252999.3	-	23	2811	c.2745G>T	c.(2743-2745)agG>agT	p.R915S	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	915	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCCACGATCCTGGGCTGGG	0.672																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2743-2745)agG>agT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37	32	33					20																	60909090		2199	4297	6496	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60909090C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2745G>T	20.37:g.60909090C>A	ENSP00000252999:p.Arg915Ser						p.R915S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		23	2811	-	Breast(26;1.57e-08)		915			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2745G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.981789	0.34942	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.54	1.01	0.19927	.	0.235548	0.44097	U	0.000500	T	0.11665	0.0284	L	0.42686	1.345	0.80722	D	1	P	0.39480	0.675	B	0.34824	0.19	T	0.17379	-1.0371	10	0.22706	T	0.39	.	9.6626	0.39965	0.0:0.684:0.0:0.316	.	915	O15230	LAMA5_HUMAN	S	915	ENSP00000252999:R915S	ENSP00000252999:R915S	R	-	3	2	LAMA5	60342485	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.767000	0.26575	0.353000	0.24079	-0.283000	0.09986	AGG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		12	26	1	0	0.00010058	1	0.00010058	12	26					A	60909090	C	A	60909090	3	1	223	1	0	0	0	0	1	0	0	0	8609	854	30	4	8574	4	LAMA5	20	60909090	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		60909090	2116430	62	27640											
RIPK4	54101	broad.mit.edu	37	chr21	43161696	43161696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgcagcaggatgcgcaCgatattctcctgcccgtgct	12	14	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:43161696C>T	ENST00000352483.2	-	9	1865	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	RIPK4_ENST00000544709.1_Missense_Mutation_p.V490M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.V553M|RIPK4_ENST00000542057.1_Missense_Mutation_p.V490M			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	601					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						AGGATGCGCACGATATTCTCC	0.662																																						ENST00000352483.2																			0				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						c.(1801-1803)Gtg>Atg		receptor-interacting serine-threonine kinase 4							45	41	42					21																	43161696		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161696C>T	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.1801G>A	21.37:g.43161696C>T	ENSP00000330161:p.Val601Met					RIPK4_ENST00000544709.1_Missense_Mutation_p.V490M|RIPK4_ENST00000332512.3_Missense_Mutation_p.V553M|RIPK4_ENST00000542057.1_Missense_Mutation_p.V490M	p.V601M			Q96T11	Q96T11_HUMAN			9	1865	-			553					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1801G>A		.	.	.	.	.	.	.	.	.	.	C	17.45	3.392004	0.62066	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000037	D	0.83510	0.5270	M	0.73319	2.225	0.47276	D	0.99937	D	0.89917	1.0	D	0.87578	0.998	D	0.85613	0.1259	10	0.72032	D	0.01	-40.3754	17.2655	0.87085	0.0:1.0:0.0:0.0	.	553	P57078-2	.	M	553;601;490;490;292	ENSP00000332454:V553M;ENSP00000330161:V601M;ENSP00000441754:V490M;ENSP00000442901:V490M	ENSP00000330975:V292M	V	-	1	0	RIPK4	42034765	0.998000	0.40836	0.099000	0.21106	0.722000	0.41435	3.742000	0.55097	2.291000	0.77112	0.655000	0.94253	GTG		0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		25	45	0	0	0	1	0	25	45					T	43161696	C	T	43161696	3	4	223	1	0	0	0	0	1	0	0	0	13383	536	19	1	701	1	RIPK4	21	43161696	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		43161696	4968199	63	27641											
TRPM2	7226	broad.mit.edu	37	chr21	45861583	45861583	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcttccagaacctgcaCgcctgcgactcgggggcctc	11	15	1	1	rs374406565		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:45861583C>T	ENST00000397928.1	+	32	4840	c.4395C>T	c.(4393-4395)caC>caT	p.H1465H	TRPM2_ENST00000397932.2_Silent_p.H1515H|TRPM2_ENST00000300482.5_Silent_p.H1465H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.H1411H|snoZ6_ENST00000583496.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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						AGAACCTGCACGCCTGCGACT	0.662																																						ENST00000397928.1																			0				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						c.(4393-4395)caC>caT		transient receptor potential cation channel, subfamily M, member 2		C		2,4404	4.2+/-10.8	0,2,2201	54	44	47		4395	-8	0	21		47	0,8598		0,0,4299	no	coding-synonymous	TRPM2	NM_003307.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		1465/1504	45861583	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861583C>T	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.4395C>T	21.37:g.45861583C>T						TRPM2_ENST00000300482.5_Silent_p.H1465H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.H1515H|TRPM2_ENST00000300481.9_Silent_p.H1411H	p.H1465H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			32	4840	+			1465			Nudix hydrolase.		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.4395C>T	CCDS13710.1																																																																																				0.662	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		16	48	0	0	0	1	0	16	48					T	45861583	C	T	45861583	2	4	223	1	0	0	0	0	0	0	0	1	16583	535	19	1		1	TRPM2	21	45861583	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	2699887	45861583	2268312	64	27642											
ADRBK2	157	broad.mit.edu	37	chr22	26057597	26057597	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcctttgcagaagtcgaCaaatttatgatgcctacatc	7	11	0	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr22:26057597C>T	ENST00000324198.6	+	4	511	c.319C>T	c.(319-321)Caa>Taa	p.Q107*		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	107	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)	CAGAAGTCGACAAATTTATGA	0.343																																						ENST00000324198.5																			0				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						c.(319-321)Caa>Taa		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						152	130	137					22																	26057597		2203	4300	6503	SO:0001587	stop_gained	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26057597C>T	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.319C>T	22.37:g.26057597C>T	ENSP00000317578:p.Gln107*						p.Q107*	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			4	511	+			107			N-terminal.|RGS.		Q9UGW9	Nonsense_Mutation	SNP	ENST00000324198.6	37	c.319C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477557	0.84640	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	.	.	.	5.93	4.89	0.63831	.	0.062615	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-32.9044	12.238	0.54526	0.17:0.83:0.0:0.0	.	.	.	.	X	107	.	ENSP00000317578:Q107X	Q	+	1	0	ADRBK2	24387597	0.998000	0.40836	0.170000	0.22879	0.319000	0.28217	4.214000	0.58527	1.451000	0.47736	0.655000	0.94253	CAA		0.343	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		18	43	0	0	0	1	0	18	43					T	26057597	C	T	26057597	4	4	223	1	0	0	0	0	0	1	0	0	344	479	17	2	333	2	ADRBK2	22	26057597	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		26057597	25246969	65	27643											
ZNF41	7592	broad.mit.edu	37	chrX	47308233	47308233	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggatgtacatcaacctgGggtttctgggggaagacttt	13	7	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:47308233G>T	ENST00000377065.4	-	5	1575	c.936C>A	c.(934-936)ccC>ccA	p.P312P	ZNF41_ENST00000397050.2_Silent_p.P322P|ZNF41_ENST00000313116.7_Silent_p.P312P|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	354					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(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CATCAACCTGGGGTTTCTGGG	0.423																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(934-936)ccC>ccA		zinc finger protein 41							74	71	72					X																	47308233		2203	4300	6503	SO:0001819	synonymous_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308233G>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.936C>A	X.37:g.47308233G>T						ZNF41_ENST00000313116.7_Silent_p.P312P|ZNF41_ENST00000397050.2_Silent_p.P322P	p.P312P	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1575	-		all_lung(315;0.000129)	354					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	ENST00000377065.4	37	c.936C>A	CCDS14279.1																																																																																				0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		109	187	1	0	2.12943e-44	1	2.19396e-44	109	187					T	47308233	G	T	47308233	2	4	223	1	0	0	0	0	0	0	0	1	17886	1219	43	4		4	ZNF41	23	47308233	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		47308233	107962327	66	27644											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	193	0	0	0	1	0	7	193					C	73811938	G	C	73811938	2	2	223	1	0	0	0	0	0	0	0	1	13390	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	26503705	73811938	81458622	67	27645											
COL4A5	1287	broad.mit.edu	37	chrX	107683420	107683420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgagtctttgggggcAgcctgcagaggctgcggtaa	17	10	1	2	rs281874760		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:107683420A>T	ENST00000361603.2	+	1	309	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	COL4A6_ENST00000334504.7_5'Flank|COL4A6_ENST00000372216.4_5'Flank|COL4A5_ENST00000328300.6_Missense_Mutation_p.Q22L|COL4A6_ENST00000545689.1_5'Flank|COL4A6_ENST00000538570.1_5'Flank|COL4A6_ENST00000461897.1_5'Flank|COL4A6_ENST00000394872.2_5'Flank|COL4A5_ENST00000477429.1_3'UTR	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	22					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTTTGGGGGCAGCCTGCAGAG	0.602									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(64-66)cAg>cTg		collagen, type IV, alpha 5							48	38	42					X																	107683420		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107683420A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.65A>T	X.37:g.107683420A>T	ENSP00000354505:p.Gln22Leu					COL4A5_ENST00000361603.2_Missense_Mutation_p.Q22L|COL4A5_ENST00000477429.1_3'UTR	p.Q22L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			1	309	+			22					Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.65A>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852845	0.51270	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.90844	-2.74;-2.56	4.68	3.54	0.40534	.	0.541233	0.17749	N	0.163314	T	0.75693	0.3884	N	0.08118	0	0.27806	N	0.942328	B;B	0.29037	0.231;0.231	B;B	0.19391	0.025;0.025	T	0.65561	-0.6138	10	0.30078	T	0.28	.	5.2639	0.15588	0.8735:0.0:0.1265:0.0	.	22;22	E7EVY4;P29400	.;CO4A5_HUMAN	L	22	ENSP00000331902:Q22L;ENSP00000354505:Q22L	ENSP00000331902:Q22L	Q	+	2	0	COL4A5	107570076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	1.798000	0.52647	0.486000	0.48141	CAG		0.602	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			18	43	0	0	0	1	0	18	43					T	107683420	A	T	107683420	3	4	223	1	0	0	0	0	1	0	0	0	3694	188	7	5	67	5	COL4A5	23	107683420	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	33871482	107683420	47587140	68	27646											
SLC6A8	6535	broad.mit.edu	37	chrX	152960346	152960346	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagggcaccatggctgaggTaaggctcccgcccggcccgc	14	16	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:152960346T>A	ENST00000253122.5	+	12	2243		c.e12+2		SLC6A8_ENST00000430077.2_Splice_Site|SLC6A8_ENST00000485324.1_Splice_Site	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ATGGCTGAGGTAAGGCTCCCG	0.692																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.e12+2		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						12	11	11					X																	152960346		2194	4267	6461	SO:0001630	splice_region_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960346T>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1767+2T>A	X.37:g.152960346T>A						SLC6A8_ENST00000430077.2_Splice_Site|SLC6A8_ENST00000485324.1_Splice_Site		NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			12	2243	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Splice_Site	SNP	ENST00000253122.5	37		CCDS14726.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557535	0.45590	.	.	ENSG00000130821	ENST00000253122;ENST00000430077;ENST00000328897	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6352	0.56679	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A8	152613540	1.000000	0.71417	0.960000	0.40013	0.496000	0.33645	6.100000	0.71473	1.620000	0.50308	0.430000	0.28490	.		0.692	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		Intron	7	9	0	0	0	1	0	7	9					A	152960346	T	A	152960346	5	1	223	1	0	0	0	0	0	0	1	0	14690	1652	57	5	1815	5	SLC6A8	23	152960346	Splice_Site	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08	45276926	152960346	2310214	69	27647											
FLNA	2316	broad.mit.edu	37	chrX	153599591	153599591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgctgcgctctggcccGcccgagagtgggagctactc	14	16	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:153599591G>A	ENST00000369850.3	-	2	259	c.23C>T	c.(22-24)gCg>gTg	p.A8V	FLNA_ENST00000360319.4_Missense_Mutation_p.A8V|FLNA_ENST00000344736.4_Missense_Mutation_p.A8V|FLNA_ENST00000422373.1_Missense_Mutation_p.A8V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	8	Actin-binding.				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)					GCTCTGGCCCGCCCGAGAGTG	0.721																																						ENST00000422373.1																			0				breast(6)	6						c.(22-24)gCg>gTg		filamin A, alpha							6	7	6					X																	153599591		1796	3834	5630	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153599591G>A	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.23C>T	X.37:g.153599591G>A	ENSP00000358866:p.Ala8Val					FLNA_ENST00000360319.4_Missense_Mutation_p.A8V|FLNA_ENST00000344736.4_Missense_Mutation_p.A8V|FLNA_ENST00000369850.3_Missense_Mutation_p.A8V	p.A8V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			2	271	-	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)		8			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.23C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245118	0.22796	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	4.62	1.57	0.23409	.	1.250780	0.05743	N	0.601657	T	0.69949	0.3168	N	0.14661	0.345	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54173	-0.8333	9	.	.	.	.	2.178	0.03867	0.1837:0.3507:0.3306:0.135	.	8;8	P21333-2;P21333	.;FLNA_HUMAN	V	8	ENSP00000353467:A8V;ENSP00000416926:A8V;ENSP00000358866:A8V;ENSP00000358863:A8V	.	A	-	2	0	FLNA	153252785	0.003000	0.15002	0.033000	0.17914	0.547000	0.35210	1.561000	0.36342	0.335000	0.23614	-0.351000	0.07748	GCG		0.721	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	11	0	0	0	1	0	3	11					A	153599591	G	A	153599591	3	1	223	1	0	0	0	0	1	0	0	0	5933	1087	38	1	8108	1	FLNA	23	153599591	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	639245	153599591	1670969	70	27648											
F8	2157	broad.mit.edu	37	chrX	154157638	154157638	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccccagggagccaacctctCtttgatcaccagtcatctcc	6	17	4	1	rs142955808		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:154157638C>T	ENST00000360256.4	-	14	4627	c.4427G>A	c.(4426-4428)aGa>aAa	p.R1476K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1476	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAACCTCTCTTTGATCACC	0.438																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4426-4428)aGa>aAa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						73	67	69					X																	154157638		2203	4298	6501	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157638C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4427G>A	X.37:g.154157638C>T	ENSP00000353393:p.Arg1476Lys						p.R1476K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4627	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1476			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4427G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-2.013562	0.00422	.	.	ENSG00000185010	ENST00000360256	D	0.99005	-5.32	5.47	0.538	0.17150	.	1.105250	0.06712	N	0.773356	D	0.96156	0.8747	L	0.40543	1.245	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	D	0.90065	0.4159	10	0.02654	T	1	0.0025	7.2088	0.25921	0.0:0.3108:0.0:0.6892	.	1476	P00451	FA8_HUMAN	K	1476	ENSP00000353393:R1476K	ENSP00000353393:R1476K	R	-	2	0	F8	153810832	0.029000	0.19370	0.006000	0.13384	0.046000	0.14306	-0.045000	0.12003	0.054000	0.16065	0.540000	0.68198	AGA		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			19	185	0	0	0	1	0	19	185					T	154157638	C	T	154157638	3	4	223	1	0	0	0	0	1	0	0	0	5350	913	32	2	2708	2	F8	23	154157638	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	558047	154157638	1112922	71	27649											
ARID1A	8289	broad.mit.edu	37	chr1	27058039	27058040	+	Frame_Shift_Del	DEL	CA	CA	-													aggctgcgtatcctcagcccCagtctcagcagtcccagcaa					rs549610261		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:27058039_27058040delCA	ENST00000324856.7	+	3	2118_2119	c.1747_1748delCA	c.(1747-1749)cagfs	p.Q583fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	583					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)		TCCTCAGCCCCAGTCTCAGCAG	0.609			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(1747-1749)gfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058039_27058040delCA	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.1747_1748delCA	1.37:g.27058039_27058040delCA	ENSP00000320485:p.Gln583fs					ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs	p.Q583fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	3	2118_2119	+		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)	583					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1747_1748delCA	CCDS285.1																																																																																				0.609	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	231						23	231	---	---	---	---	-	27058040	CA	-	27058039	7	5	224	1	0	1	0	1	0	0	0	0	913	595	21	0	1757	0	ARID1A	1	27058039	Frame_Shift_Del	DEL	CA	TCGA-FG-A710-01A-12D-A33T-08		27058039	222192582	1	27650											
PODN	127435	broad.mit.edu	37	chr1	53535555	53535557	+	In_Frame_Del	DEL	CTG	CTG	-													agagccgggtgctgctgctcCtgctgctgctgccgccacag							TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:53535555_53535557delCTG	ENST00000312553.5	+	2	179_181	c.172_174delCTG	c.(172-174)ctgdel	p.L61del	PODN_ENST00000371500.3_In_Frame_Del_p.L42del|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	13	LRRNT.				negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						gctgctgctcctgctgctgctgc	0.685																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(115-117)del		podocan			,,,	49,3955		2,45,1955					,,,	-3.2	0			8	115,7719		4,107,3806	no	coding,coding,coding,coding	PODN	NM_153703.4,NM_001199082.1,NM_001199081.1,NM_001199080.1	,,,	6,152,5761	A1A1,A1R,RR		1.468,1.2238,1.3854	,,,	,,,		164,11674				SO:0001651	inframe_deletion	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53535555_53535557delCTG	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.172_174delCTG	1.37:g.53535564_53535566delCTG	ENSP00000308315:p.Leu61del					PODN_ENST00000312553.5_In_Frame_Del_p.L61del|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	p.L42del	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			4	456_458	+			13					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	In_Frame_Del	DEL	ENST00000312553.5	37	c.115_117delCTG	CCDS573.1																																																																																				0.685	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		2	4						2	4	---	---	---	---	-	53535557	CTG	-	53535555	7	5	224	1	0	1	0	1	0	0	0	0	12178	680	24	0	178	0	PODN	1	53535555	In_Frame_Del	DEL	CTG	TCGA-FG-A710-01A-12D-A33T-08	26477516	53535555	195715066	2	27651											
FUBP1	8880	broad.mit.edu	37	chr1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgttatttgtgctatcctttCgggtgttgtcccatcatctt	8	9	2	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:78429830C>A	ENST00000370768.2	-	12	1039	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E320*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(958-960)Gaa>Taa		far upstream element (FUSE) binding protein 1							213	205	208					1																	78429830		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429830C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.958G>T	1.37:g.78429830C>A	ENSP00000359804:p.Glu320*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*	p.E320*			Q96AE4	FUBP1_HUMAN			12	1045	-			320			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.958G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901936	0.92035	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	5.81	0.92471	.	0.188815	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.2449	20.0643	0.97702	0.0:1.0:0.0:0.0	.	.	.	.	X	319;320;320;319;341	.	ENSP00000294623:E319X	E	-	1	0	FUBP1	78202418	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.818000	0.86416	2.737000	0.93849	0.650000	0.86243	GAA		0.348	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	149	1	0	0.000308642	1	0.000316984	15	149					A	78429830	C	A	78429830	4	1	224	1	0	0	0	0	0	1	0	0	6092	893	31	4	1012	4	FUBP1	1	78429830	Nonsense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	24894275	78429830	170820791	3	27652											
AQP10	89872	broad.mit.edu	37	chr1	154294528	154294528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctacgtgggtggtaaCgtctcaggtgaggagggtgg	18	7	2	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:154294528C>T	ENST00000324978.3	+	2	265	c.225C>T	c.(223-225)aaC>aaT	p.N75N	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Silent_p.N75N	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	75					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGGTAACGTCTCAGGTG	0.547																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(223-225)aaC>aaT		aquaporin 10							64	55	58					1																	154294528		2203	4300	6503	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154294528C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.225C>T	1.37:g.154294528C>T						AQP10_ENST00000355197.4_Intron|AQP10_ENST00000324978.3_Silent_p.N75N	p.N75N			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	261	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		75					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.225C>T	CCDS1065.1																																																																																				0.547	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		18	31	0	0	0	1	0	18	31					T	154294528	C	T	154294528	2	4	224	1	0	0	0	0	0	0	0	1	822	535	19	1		1	AQP10	1	154294528	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	75864698	154294528	94956093	4	27653											
SOAT1	6646	broad.mit.edu	37	chr1	179314136	179314136	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaggctttgtgcccccTtgtttcggaatatcaaacag	9	9	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:179314136T>C	ENST00000367619.3	+	11	1185	c.1042T>C	c.(1042-1044)Ttg>Ctg	p.L348L	SOAT1_ENST00000535686.1_Silent_p.L84L|SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000539888.1_Silent_p.L283L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	348					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGTGCCCCCTTGTTTCGGAA	0.408																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1042-1044)Ttg>Ctg		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						277	262	267					1																	179314136		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179314136T>C	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1042T>C	1.37:g.179314136T>C						SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000535686.1_Silent_p.L84L|SOAT1_ENST00000539888.1_Silent_p.L283L	p.L348L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			11	1185	+			348					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.1042T>C	CCDS1330.1																																																																																				0.408	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		16	311	0	0	0	1	0	16	311					C	179314136	T	C	179314136	2	2	224	1	0	0	0	0	0	0	0	1	14910	1606	56	3		3	SOAT1	1	179314136	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	25019608	179314136	69936485	5	27654											
DNMT3A	1788	broad.mit.edu	37	chr2	25463299	25463299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcggtagaactcaaAgaagagccggccagtgccct	14	11	1	3	rs149043640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:25463299A>G	ENST00000264709.3	-	19	2531	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	732	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)					TAGAACTCAAAGAAGAGCCGG	0.607			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(2194-2196)Ttt>Ctt		DNA (cytosine-5-)-methyltransferase 3 alpha							61	61	61					2																	25463299		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463299A>G		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.2194T>C	2.37:g.25463299A>G	ENSP00000264709:p.Phe732Leu					DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L	p.F732L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			19	2531	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		732					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2194T>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	32	5.123446	0.94429	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	L	0.60957	1.885	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.72338	0.977;0.771	D	0.91322	0.5083	10	0.87932	D	0	-3.1685	14.1959	0.65670	1.0:0.0:0.0:0.0	.	732;543	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	543;732;732;509	ENSP00000370122:F543L;ENSP00000324375:F732L;ENSP00000264709:F732L;ENSP00000384237:F509L	ENSP00000264709:F732L	F	-	1	0	DNMT3A	25316803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.054000	0.61138	0.459000	0.35465	TTT		0.607	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		38	67	0	0	0	1	0	38	67					G	25463299	A	G	25463299	3	3	224	1	0	0	0	0	1	0	0	0	4676	72	3	3	564	3	DNMT3A	2	25463299	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08		25463299	217736074	6	27655											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135922204	135922204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcctgaagtgttagtcAccggtgcaggaagaggacat	14	8	1	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:135922204A>G	ENST00000264158.8	+	23	2690	c.2647A>G	c.(2647-2649)Acc>Gcc	p.T883A	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	883					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGTGTTAGTCACCGGTGCAGG	0.512																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2647-2649)Acc>Gcc		RAB3 GTPase activating protein subunit 1 (catalytic)							125	103	110					2																	135922204		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922204A>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2647A>G	2.37:g.135922204A>G	ENSP00000264158:p.Thr883Ala					RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A|ZRANB3_ENST00000412849.1_Intron	p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2690	+			883					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2647A>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	3.387	-0.125175	0.06795	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.40476	1.03;1.03;1.04	4.97	-4.14	0.03892	.	0.852782	0.10816	N	0.630944	T	0.15219	0.0367	N	0.08118	0	0.31065	N	0.713713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41538	-0.9503	10	0.06891	T	0.86	-0.3512	6.0764	0.19917	0.2582:0.1057:0.5214:0.1147	.	883;883	C9J837;Q15042	.;RB3GP_HUMAN	A	883;839;883	ENSP00000264158:T883A;ENSP00000444306:T839A;ENSP00000411418:T883A	ENSP00000264158:T883A	T	+	1	0	RAB3GAP1	135638674	0.165000	0.22948	0.038000	0.18304	0.978000	0.69477	0.115000	0.15540	-0.949000	0.03663	-0.353000	0.07706	ACC		0.512	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		3	60	0	0	0	1	0	3	60					G	135922204	A	G	135922204	3	3	224	1	0	0	0	0	1	0	0	0	12935	159	6	3	2737	3	RAB3GAP1	2	135922204	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	110458905	135922204	107277169	7	27656											
CIR1	9541	broad.mit.edu	37	chr2	175243709	175243709	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaccaaacaaaggacaTtctcgatctgtgttgacatg	9	8	2	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:175243709T>C	ENST00000342016.3	-	7	518	c.426A>G	c.(424-426)gaA>gaG	p.E142E	CIR1_ENST00000362053.5_Silent_p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	142					mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ACAAAGGACATTCTCGATCTG	0.403																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(424-426)gaA>gaG		corepressor interacting with RBPJ, 1							179	149	159					2																	175243709		2203	4300	6503	SO:0001819	synonymous_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175243709T>C	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.426A>G	2.37:g.175243709T>C						CIR1_ENST00000362053.5_Silent_p.E142E	p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			7	518	-			142					A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Silent	SNP	ENST00000342016.3	37	c.426A>G	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241377	0.22711	.	.	ENSG00000138433	ENST00000377973	.	.	.	5.33	0.425	0.16473	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52200	-0.8607	4	.	.	.	.	10.0538	0.42233	0.0:0.4027:0.0:0.5973	.	.	.	.	V	47	.	.	M	-	1	0	CIR1	174951955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.839000	0.27586	0.109000	0.17891	-0.280000	0.10049	ATG		0.403	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		22	228	0	0	0	1	0	22	228					C	175243709	T	C	175243709	2	2	224	1	0	0	0	0	0	0	0	1	3432	1490	52	3		3	CIR1	2	175243709	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	39321505	175243709	67955664	8	27657											
PLEKHM3	389072	broad.mit.edu	37	chr2	208725913	208725913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccttctggctacaaagaCtgcagctgtacacgtgtgag	10	12	1	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:208725913C>T	ENST00000427836.2	-	7	2513	c.2024G>A	c.(2023-2025)aGt>aAt	p.S675N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	675					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTACAAAGACTGCAGCTGTA	0.438																																						ENST00000427836.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2023-2025)aGt>aAt		pleckstrin homology domain containing, family M, member 3							145	139	141					2																	208725913		1936	4148	6084	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208725913C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.2024G>A	2.37:g.208725913C>T	ENSP00000417003:p.Ser675Asn					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN			7	2513	-			675					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.2024G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636254	0.87760	.	.	ENSG00000178385	ENST00000427836;ENST00000389247	D;D	0.83755	-1.75;-1.76	5.06	5.06	0.68205	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.87532	0.2453	10	0.41790	T	0.15	.	18.9822	0.92758	0.0:1.0:0.0:0.0	.	675	Q6ZWE6	PKHM3_HUMAN	N	675	ENSP00000417003:S675N;ENSP00000373899:S675N	ENSP00000373899:S675N	S	-	2	0	PLEKHM3	208434158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.763000	0.94921	0.655000	0.94253	AGT		0.438	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		95	168	0	0	0	1	0	95	168					T	208725913	C	T	208725913	3	4	224	1	0	0	0	0	1	0	0	0	12082	565	20	2	269	2	PLEKHM3	2	208725913	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	33482204	208725913	34473460	9	27658											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			47	93	0	0	0	1	0	47	93					T	209113112	C	T	209113112	3	4	224	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	387199	209113112	34086261	10	27659											
COL7A1	1294	broad.mit.edu	37	chr3	48619177	48619177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagctcctctgggcccagCgggccccacatctccctgga	12	17	2	0	rs143352280	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr3:48619177C>T	ENST00000328333.8	-	48	4791	c.4684G>A	c.(4684-4686)Gct>Act	p.A1562T	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.A1562T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1562	Triple-helical region.				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)		CTGGGCCCAGCGGGCCCCACA	0.582																																						ENST00000328333.8																			0				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						c.(4684-4686)Gct>Act		collagen, type VII, alpha 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125	135	132		4684	-8.5	0	3	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense	COL7A1	NM_000094.3	58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	1562/2945	48619177	3,13003	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619177C>T	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.4684G>A	3.37:g.48619177C>T	ENSP00000332371:p.Ala1562Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.A1562T	p.A1562T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	48	4791	-			1562			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4684G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232984	0.39498	2.27E-4	2.33E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93604	-3.25;-3.25	5.11	-8.46	0.00942	.	0.442251	0.18579	N	0.137088	T	0.76997	0.4066	N	0.13198	0.31	0.09310	N	1	P	0.37176	0.586	B	0.25291	0.059	T	0.74231	-0.3732	10	0.15952	T	0.53	.	9.6169	0.39696	0.0:0.3908:0.3852:0.224	.	1562	Q02388	CO7A1_HUMAN	T	1562	ENSP00000332371:A1562T;ENSP00000412569:A1562T	ENSP00000332371:A1562T	A	-	1	0	COL7A1	48594181	0.000000	0.05858	0.001000	0.08648	0.723000	0.41478	-2.865000	0.00724	-1.497000	0.01826	-0.302000	0.09304	GCT		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		5	283	0	0	0	1	0	5	283					T	48619177	C	T	48619177	3	4	224	1	0	0	0	0	1	0	0	0	3704	768	27	1	4434	1	COL7A1	3	48619177	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		48619177	149403253	11	27660											
IGSF10	285313	broad.mit.edu	37	chr3	151165118	151165118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaatgttgattggttgtgCcttgtatttggcttgacatg	12	4	0	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr3:151165118C>T	ENST00000282466.3	-	4	2650	c.2651G>A	c.(2650-2652)gGc>gAc	p.G884D		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	884					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)			ATTGGTTGTGCCTTGTATTTG	0.423																																						ENST00000282466.3																			0				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						c.(2650-2652)gGc>gAc		immunoglobulin superfamily, member 10							357	357	357					3																	151165118		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165118C>T	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.2651G>A	3.37:g.151165118C>T	ENSP00000282466:p.Gly884Asp						p.G884D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2650	-			884					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2651G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951620	0.02285	.	.	ENSG00000152580	ENST00000282466	T	0.67171	-0.25	5.31	-5.34	0.02705	.	1.452150	0.04831	N	0.438696	T	0.39835	0.1093	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41124	-0.9526	10	0.07644	T	0.81	.	10.1459	0.42762	0.0:0.2568:0.1042:0.639	.	884	Q6WRI0	IGS10_HUMAN	D	884	ENSP00000282466:G884D	ENSP00000282466:G884D	G	-	2	0	IGSF10	152647808	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.747000	0.04823	-0.955000	0.03636	-0.218000	0.12543	GGC		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		6	653	0	0	0	1	0	6	653					T	151165118	C	T	151165118	3	4	224	1	0	0	0	0	1	0	0	0	7597	739	26	2	5280	2	IGSF10	3	151165118	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	102545941	151165118	46857312	12	27661											
C4orf14	84273	broad.mit.edu	37	chr4	57832878	57832878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgttggaagccacgaCtgtaaaccaagctgactgat	12	8	0	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:57832878C>A	ENST00000264230.4	-	5	2909	c.1672G>T	c.(1672-1674)Gtc>Ttc	p.V558F		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	558					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)										GAAGCCACGACTGTAAACCAA	0.448																																						ENST00000264230.4																			0											c.(1672-1674)Gtc>Ttc		nitric oxide associated 1							158	137	144					4																	57832878		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57832878C>A	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.1672G>T	4.37:g.57832878C>A	ENSP00000264230:p.Val558Phe						p.V558F	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2909	-			558					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1672G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443913	0.83993	.	.	ENSG00000084092	ENST00000264230	T	0.36340	1.26	5.81	5.81	0.92471	.	0.060979	0.64402	D	0.000005	T	0.62732	0.2452	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62181	-0.6908	10	0.59425	D	0.04	.	20.0745	0.97737	0.0:1.0:0.0:0.0	.	558	Q8NC60	CD014_HUMAN	F	558	ENSP00000264230:V558F	ENSP00000264230:V558F	V	-	1	0	C4orf14	57527635	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.016000	0.57159	2.748000	0.94277	0.462000	0.41574	GTC		0.448	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		7	160	1	0	0.000274275	1	0.000285547	7	160					A	57832878	C	A	57832878	3	1	224	1	0	0	0	0	1	0	0	0	2251	565	20	4	436	4	C4orf14	4	57832878	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		57832878	133321398	13	27662											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69097010	69097010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttccattgcatgctggcCtgccatggccatgccccctc	8	18	0	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:69097010C>T	ENST00000332644.5	-	7	758	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	199	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GCATGCTGGCCTGCCATGGCC	0.493																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(595-597)caG>caA		transmembrane protease, serine 11B							78	77	78					4																	69097010		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69097010C>T	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.597G>A	4.37:g.69097010C>T							p.Q199Q	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			7	758	-			199			Peptidase S1.		A8K4D9	Silent	SNP	ENST00000332644.5	37	c.597G>A	CCDS3521.1																																																																																				0.493	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		13	96	0	0	0	1	0	13	96					T	69097010	C	T	69097010	2	4	224	1	0	0	0	0	0	0	0	1	16237	680	24	2		2	TMPRSS11B	4	69097010	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	11264132	69097010	122057266	14	27663											
FAM190A	401145	broad.mit.edu	37	chr4	91230393	91230393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccctgtgcaattatgTctcctgggaaatataggtta	9	8	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:91230393T>C	ENST00000509176.1	+	2	1246	c.958T>C	c.(958-960)Tct>Cct	p.S320P	CCSER1_ENST00000333691.8_Missense_Mutation_p.S320P|CCSER1_ENST00000432775.2_Missense_Mutation_p.S320P	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	320																	TGCAATTATGTCTCCTGGGAA	0.418																																						ENST00000509176.1																			0											c.(958-960)Tct>Cct		coiled-coil serine-rich protein 1							134	127	129					4																	91230393		1887	4118	6005	SO:0001583	missense	401145							g.chr4:91230393T>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.958T>C	4.37:g.91230393T>C	ENSP00000425040:p.Ser320Pro					CCSER1_ENST00000432775.2_Missense_Mutation_p.S320P|CCSER1_ENST00000333691.8_Missense_Mutation_p.S320P	p.S320P	NM_001145065.1	NP_001138537.1					2	1246	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.958T>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.021720	0.35701	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.53640	1.14;0.61;1.14	4.61	2.05	0.26809	.	0.579894	0.18047	N	0.153423	T	0.34774	0.0909	L	0.43152	1.355	0.28121	N	0.930608	P;B;B	0.36412	0.552;0.004;0.002	B;B;B	0.34779	0.189;0.01;0.011	T	0.28554	-1.0040	10	0.72032	D	0.01	-3.2009	5.225	0.15389	0.0:0.157:0.152:0.691	.	320;320;320	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	P	320	ENSP00000425040:S320P;ENSP00000389283:S320P;ENSP00000329482:S320P	ENSP00000329482:S320P	S	+	1	0	FAM190A	91449416	0.980000	0.34600	0.909000	0.35828	0.464000	0.32679	1.082000	0.30803	0.323000	0.23307	-0.256000	0.11100	TCT		0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		6	155	0	0	0	1	0	6	155					C	91230393	T	C	91230393	3	2	224	1	0	0	0	0	1	0	0	0	5521	1667	58	3	960	3	FAM190A	4	91230393	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	22133383	91230393	99923883	15	27664											
ACCN5	51802	broad.mit.edu	37	chr4	156757955	156757955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcttcacaagaaacgGggcagctagagttatgtgtt	10	7	2	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:156757955G>A	ENST00000537611.2	-	8	1167	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	374					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										ACAAGAAACGGGGCAGCTAGA	0.358																																						ENST00000537611.2																			0											c.(1120-1122)cCc>cTc		acid-sensing (proton-gated) ion channel family member 5							81	87	85					4																	156757955		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156757955G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1121C>T	4.37:g.156757955G>A	ENSP00000442477:p.Pro374Leu						p.P374L	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			8	1167	-			374						Missense_Mutation	SNP	ENST00000537611.2	37	c.1121C>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247100	0.80024	.	.	ENSG00000256394	ENST00000537611	T	0.62232	0.04	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000004	T	0.68659	0.3025	M	0.87900	2.915	0.58432	D	0.999999	B	0.23937	0.094	B	0.32149	0.141	T	0.67673	-0.5610	10	0.08599	T	0.76	-11.7397	18.7444	0.91787	0.0:0.0:1.0:0.0	.	374	Q9NY37	ACCN5_HUMAN	L	374	ENSP00000442477:P374L	ENSP00000264432:P374L	P	-	2	0	ACCN5	156977405	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.212000	0.72188	2.594000	0.87642	0.655000	0.94253	CCC		0.358	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			9	198	0	0	0	1	0	9	198					A	156757955	G	A	156757955	3	1	224	1	0	0	0	0	1	0	0	0	132	1232	43	2	408	2	ACCN5	4	156757955	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	65527562	156757955	34396321	16	27665											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855581	79855581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaagcatgcatcagagcCgttttcccagatttgtcctg	9	11	1	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:79855581C>T	ENST00000338682.3	-	5	930	c.258G>A	c.(256-258)acG>acA	p.T86T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GCATCAGAGCCGTTTTCCCAG	0.463																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(256-258)acG>acA		ankyrin repeat domain 34B							162	157	159					5																	79855581		2203	4300	6503	SO:0001819	synonymous_variant	340120					cytoplasm|nucleus		g.chr5:79855581C>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.258G>A	5.37:g.79855581C>T							p.T86T	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	930	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	86					B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	c.258G>A	CCDS34194.1																																																																																				0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		4	322	0	0	0	1	0	4	322					T	79855581	C	T	79855581	2	4	224	1	0	0	0	0	0	0	0	1	663	639	23	1		1	ANKRD34B	5	79855581	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		79855581	101059679	17	27666											
PJA2	9867	broad.mit.edu	37	chr5	108714431	108714431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctctgaatttcctggcTattctgatggacaaactcag	8	10	3	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:108714431T>C	ENST00000361189.2	-	4	996	c.757A>G	c.(757-759)Agc>Ggc	p.S253G	PJA2_ENST00000361557.3_Missense_Mutation_p.S253G|PJA2_ENST00000511624.1_5'Flank	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	253					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)		ATTTCCTGGCTATTCTGATGG	0.383																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(757-759)Agc>Ggc		praja ring finger 2, E3 ubiquitin protein ligase							114	126	122					5																	108714431		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714431T>C	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.757A>G	5.37:g.108714431T>C	ENSP00000354775:p.Ser253Gly					PJA2_ENST00000361557.3_Missense_Mutation_p.S253G	p.S253G	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	996	-		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)	253					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.757A>G	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	1.729	-0.494737	0.04322	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05447	3.44;3.44	4.81	-3.39	0.04868	.	0.739340	0.13381	N	0.392139	T	0.02848	0.0085	N	0.11255	0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46762	-0.9168	10	0.13853	T	0.58	4.1562	10.3948	0.44194	0.0:0.1771:0.1018:0.7211	.	253	O43164	PJA2_HUMAN	G	253	ENSP00000354775:S253G;ENSP00000355284:S253G	ENSP00000354775:S253G	S	-	1	0	PJA2	108742330	0.002000	0.14202	0.001000	0.08648	0.369000	0.29798	0.706000	0.25690	-0.674000	0.05253	-1.715000	0.00711	AGC		0.383	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		87	139	0	0	0	1	0	87	139					C	108714431	T	C	108714431	3	2	224	1	0	0	0	0	1	0	0	0	11962	1522	53	3	1397	3	PJA2	5	108714431	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	28858850	108714431	72200829	18	27667											
PCDHA3	56145	broad.mit.edu	37	chr5	140182636	140182636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgggaccggcggtgcGcgcatcccgtttcgcgtggg	17	14	0	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	618	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(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)			CCGGCGGTGCGCGCATCCCGT	0.672																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1852-1854)gcG>gcA									76	76	76					5																	140182636		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140182636G>A	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.1854G>A	5.37:g.140182636G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000520672.2_Intron	p.A618A	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1854	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1854G>A	CCDS54915.1																																																																																				0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		88	91	0	0	0	1	0	88	91					A	140182636	G	A	140182636	2	1	224	1	0	0	0	0	0	0	0	1	11525	1074	38	1		1	PCDHA3	5	140182636	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	31468205	140182636	40732624	19	27668											
SLC34A1	6569	broad.mit.edu	37	chr5	176824788	176824788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatcccctgcagattgCcctctgtcacttcttcttca	5	17	6	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:176824788C>T	ENST00000324417.5	+	13	1512	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	474					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	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)			CTGCAGATTGCCCTCTGTCAC	0.612																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1420-1422)gCc>gTc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							101	86	91					5																	176824788		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824788C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1421C>T	5.37:g.176824788C>T	ENSP00000321424:p.Ala474Val					SLC34A1_ENST00000513614.1_3'UTR	p.A474V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1512	+	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)	474					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1421C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874163	0.91664	.	.	ENSG00000131183	ENST00000324417	D	0.87809	-2.3	4.85	4.85	0.62838	.	0.114316	0.64402	D	0.000017	D	0.95332	0.8485	H	0.94222	3.51	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.96602	0.9445	10	0.87932	D	0	-18.4326	18.169	0.89739	0.0:1.0:0.0:0.0	.	474	Q06495	NPT2A_HUMAN	V	474	ENSP00000321424:A474V	ENSP00000321424:A474V	A	+	2	0	SLC34A1	176757394	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.559000	0.82265	2.512000	0.84698	0.484000	0.47621	GCC		0.612	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		4	165	0	0	0	1	0	4	165					T	176824788	C	T	176824788	3	4	224	1	0	0	0	0	1	0	0	0	14567	739	26	2	1558	2	SLC34A1	5	176824788	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	36642152	176824788	4090472	20	27669											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgccctgcttgccacgtccaGacatggtaaaacgacctgtg	10	14	0	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572																																						ENST00000359611.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(4-6)tCt>tGt		histone cluster 1, H2am							37	38	38					6																	27860923		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860923G>C	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"Histones / Replication-dependent"	4735	protein-coding gene	gene with protein product		602796	"H2A histone family, member N", "histone 1, H2am"	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.5C>G	6.37:g.27860923G>C	ENSP00000352627:p.Ser2Cys						p.S2C	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN			1	40	-			2					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.5C>G	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114462	0.20795	.	.	ENSG00000233224	ENST00000359611	D	0.92965	-3.14	3.92	3.92	0.45320	.	0.000000	0.30329	U	0.009878	D	0.97185	0.9080	H	0.98612	4.28	0.23050	N	0.998373	.	.	.	.	.	.	D	0.91636	0.5323	8	0.87932	D	0	.	15.7198	0.77700	0.0:0.0:1.0:0.0	.	.	.	.	C	2	ENSP00000352627:S2C	ENSP00000352627:S2C	S	-	2	0	HIST1H2AM	27968902	0.999000	0.42202	1.000000	0.80357	0.724000	0.41520	2.754000	0.47532	2.475000	0.83589	0.561000	0.74099	TCT		0.572	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		27	63	0	0	0	1	0	27	63					C	27860923	G	C	27860923	3	2	224	1	0	0	0	0	1	0	0	0	7139	942	33	4	391	4	HIST1H2AM	6	27860923	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		27860923	143254144	21	27670											
ZBTB9	221504	broad.mit.edu	37	chr6	33423477	33423477	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctgtgggaggggagggAagtgaactgggagaagtgct	20	5	0	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:33423477A>C	ENST00000395064.2	+	2	868	c.600A>C	c.(598-600)ggA>ggC	p.G200G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	200					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)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GAGGGGAGGGAAGTGAACTGG	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(598-600)ggA>ggC		zinc finger and BTB domain containing 9							71	75	74					6																	33423477		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423477A>C	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.600A>C	6.37:g.33423477A>C							p.G200G	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	868	+			200					A2AB19	Silent	SNP	ENST00000395064.2	37	c.600A>C	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		51	111	0	0	0	1	0	51	111					C	33423477	A	C	33423477	2	2	224	1	0	0	0	0	0	0	0	1	17555	233	9	5		5	ZBTB9	6	33423477	Silent	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	5562554	33423477	137691590	22	27671											
SLC7A13	157724	broad.mit.edu	37	chr8	87241960	87241960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attctcctttttccctcttaTcaggaacactactccagtta	3	13	3	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:87241960T>C	ENST00000297524.3	-	1	650	c.547A>G	c.(547-549)Ata>Gta	p.I183V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	183						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCCCTCTTATCAGGAACACT	0.408																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(547-549)Ata>Gta		solute carrier family 7 (anionic amino acid transporter), member 13							147	131	137					8																	87241960		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87241960T>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.547A>G	8.37:g.87241960T>C	ENSP00000297524:p.Ile183Val					SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V|SLC7A13_ENST00000520624.1_Intron	p.I183V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			1	650	-			183					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.547A>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.719509	0.00092	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89939	-2.59;-2.59	4.87	0.475	0.16774	Amino acid permease domain (1);	1.719300	0.03631	N	0.237975	T	0.67230	0.2871	N	0.00788	-1.185	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.14023	0.01;0.002	T	0.63391	-0.6648	10	0.09843	T	0.71	.	4.9453	0.13985	0.0:0.5149:0.1662:0.3189	.	183;183	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	183	ENSP00000297524:I183V;ENSP00000410982:I183V	ENSP00000297524:I183V	I	-	1	0	SLC7A13	87311076	0.000000	0.05858	0.015000	0.15790	0.023000	0.10783	-0.566000	0.05922	-0.018000	0.14079	-0.180000	0.13094	ATA		0.408	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		12	221	0	0	0	1	0	12	221					C	87241960	T	C	87241960	3	2	224	1	0	0	0	0	1	0	0	0	14695	1435	50	3	881	3	SLC7A13	8	87241960	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		87241960	59122062	23	27672											
KCNQ3	3786	broad.mit.edu	37	chr8	133141584	133141584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgacagaggcatggagccGctgggcgtgaaggggtccgt	19	9	0	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:133141584G>A	ENST00000388996.4	-	15	2964	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	KCNQ3_ENST00000521134.1_Silent_p.S728S|KCNQ3_ENST00000519445.1_Silent_p.S836S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	848					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCATGGAGCCGCTGGGCGTGA	0.582																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2542-2544)agC>agT		potassium voltage-gated channel, KQT-like subfamily, member 3							76	64	68					8																	133141584		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141584G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2544C>T	8.37:g.133141584G>A						KCNQ3_ENST00000519445.1_Silent_p.S836S|KCNQ3_ENST00000521134.1_Silent_p.S728S	p.S848S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2964	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		848					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2544C>T	CCDS34943.1																																																																																				0.582	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		4	99	0	0	0	1	0	4	99					A	133141584	G	A	133141584	2	1	224	1	0	0	0	0	0	0	0	1	8084	1078	38	1		1	KCNQ3	8	133141584	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	45899624	133141584	13222438	24	27673											
RECQL4	113655	broad.mit.edu	37	chr8	145738653	145738653	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccgtcacgcccggccCggcccacggcctgcacgtag	13	20	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:145738653C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.R804Q|CTD-2517M22.17_ENST00000580385.1_RNA	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)			ACGCCCGGCCCGGCCCACGGC	0.716																																						ENST00000428558.2										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(2410-2412)cGg>cAg	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							8	12	11					8																	145738653		1924	4079	6003	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738653C>T		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.145738653C>T						CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	p.R804Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	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)		15	2452	-	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)		804			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000301327.4	37	c.2411G>A	CCDS6431.1																																																																																				0.716	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		18	27	0	0	0	1	0	18	27					T	145738653	C	T	145738653	1	4	224	0	1	0	0	0	0	0	0	0	13202	639	23	1		1	RECQL4	8	145738653	IGR	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	12597069	145738653	625369	25	27674											
VPS13A	23230	broad.mit.edu	37	chr9	79853107	79853107	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaatcatatatgatgcAgtaagcatttttttaaatta	5	3	1	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:79853107A>C	ENST00000360280.3	+	18	2045	c.1785A>C	c.(1783-1785)gcA>gcC	p.A595A	VPS13A_ENST00000376636.3_Splice_Site_p.A595A|VPS13A_ENST00000376634.4_Splice_Site_p.A595A|VPS13A_ENST00000357409.5_Splice_Site_p.A595A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	595					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						TATATGATGCAGTAAGCATTT	0.274																																						ENST00000360280.3																			0				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						c.e18+1		vacuolar protein sorting 13 homolog A (S. cerevisiae)							50	54	53					9																	79853107		2201	4296	6497	SO:0001630	splice_region_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79853107A>C	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.1785+1A>C	9.37:g.79853107A>C						VPS13A_ENST00000376636.3_Splice_Site_p.A595_splice|VPS13A_ENST00000357409.5_Splice_Site_p.A595_splice|VPS13A_ENST00000376634.4_Splice_Site_p.A595_splice	p.A595_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			18	2045	+			595					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Splice_Site	SNP	ENST00000360280.3	37	c.1785_splice	CCDS6655.1																																																																																				0.274	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Silent	6	224	0	0	0	1	0	6	224					C	79853107	A	C	79853107	5	2	224	1	0	0	0	0	0	0	1	0	17186	202	7	5	1855	5	VPS13A	9	79853107	Splice_Site	SNP	A	TCGA-FG-A710-01A-12D-A33T-08		79853107	61360324	26	27675											
NOTCH1	4851	broad.mit.edu	37	chr9	139399934	139399934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccgccgtcccagccgcAcgcgtggttgttgcactgca	12	16	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:139399934A>G	ENST00000277541.6	-	25	4489	c.4414T>C	c.(4414-4416)Tgc>Cgc	p.C1472R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1472					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)		TCCCAGCCGCACGCGTGGTTG	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(4414-4416)Tgc>Cgc		notch 1							35	42	40					9																	139399934		2160	4248	6408	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399934A>G	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.4414T>C	9.37:g.139399934A>G	ENSP00000277541:p.Cys1472Arg	HNSCC(8;0.001)					p.C1472R	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4489	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1472					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4414T>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.786754	0.70337	.	.	ENSG00000148400	ENST00000277541	D	0.97505	-4.41	4.18	4.18	0.49190	Notch domain (5);	0.000000	0.85682	U	0.000000	D	0.98614	0.9536	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99360	1.0917	10	0.72032	D	0.01	.	12.402	0.55418	1.0:0.0:0.0:0.0	.	1472	P46531	NOTC1_HUMAN	R	1472	ENSP00000277541:C1472R	ENSP00000277541:C1472R	C	-	1	0	NOTCH1	138519755	1.000000	0.71417	0.955000	0.39395	0.776000	0.43924	8.767000	0.91732	1.517000	0.48917	0.472000	0.43445	TGC		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	75	0	0	0	1	0	4	75					G	139399934	A	G	139399934	3	3	224	1	0	0	0	0	1	0	0	0	10547	159	6	3	3293	3	NOTCH1	9	139399934	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	59546827	139399934	1813497	27	27676											
HPS1	3257	broad.mit.edu	37	chr10	100185417	100185417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccttccttcagcttcttctCcagcatggagaagccatcca	6	16	3	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:100185417C>T	ENST00000325103.6	-	13	1449	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.E406K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	406					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTTCTTCTCCAGCATGGAG	0.667									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1216-1218)Gag>Aag		Hermansky-Pudlak syndrome 1							26	29	28					10																	100185417		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100185417C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1216G>A	10.37:g.100185417C>T	ENSP00000326649:p.Glu406Lys		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	HPS1_ENST00000361490.4_Missense_Mutation_p.E406K|HPS1_ENST00000467246.1_5'UTR	p.E406K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	13	1449	-		Colorectal(252;0.234)	406					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1216G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889254	0.91889	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.32272	1.46;1.46;1.46	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.987;0.999;0.999;0.999	T	0.61277	-0.7095	10	0.52906	T	0.07	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	44;373;406;406	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	K	406;406;373;201	ENSP00000326649:E406K;ENSP00000355310:E406K;ENSP00000352652:E201K	ENSP00000326649:E406K	E	-	1	0	HPS1	100175407	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.392000	0.79840	2.524000	0.85096	0.561000	0.74099	GAG		0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		4	68	0	0	0	1	0	4	68					T	100185417	C	T	100185417	3	4	224	1	0	0	0	0	1	0	0	0	7339	864	30	2	918	2	HPS1	10	100185417	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		100185417	35349330	28	27677											
PAX2	5076	broad.mit.edu	37	chr10	102509607	102509607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcccaccagggtgtgCggccctgtgacatctcccgg	14	15	1	1	rs76675173		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:102509607C>T	ENST00000428433.1	+	2	698	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PAX2_ENST00000370296.2_Missense_Mutation_p.R50W|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000361791.3_Missense_Mutation_p.R50W|PAX2_ENST00000553492.1_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	50	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGTGTGCGGCCCTGTGA	0.687																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(148-150)Cgg>Tgg		paired box 2							26	29	28					10																	102509607		2199	4295	6494	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509607C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.148C>T	10.37:g.102509607C>T	ENSP00000396259:p.Arg50Trp					PAX2_ENST00000428433.1_Missense_Mutation_p.R50W|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000361791.3_Missense_Mutation_p.R50W	p.R50W			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	698	+		Colorectal(252;0.234)	50			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.148C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398705	0.83120	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	6.03	4.14	0.48551	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.97240	3.965	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	0.999;1.0;0.998;1.0;1.0;0.999;1.0	D	0.97000	0.9728	10	0.87932	D	0	.	14.2771	0.66187	0.39:0.61:0.0:0.0	.	49;50;50;54;50;50;54	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	W	50;50;50;50;49;50;54	ENSP00000359319:R50W;ENSP00000396259:R50W;ENSP00000355069:R50W;ENSP00000347385:R50W;ENSP00000452527:R49W;ENSP00000398652:R50W;ENSP00000452489:R54W	ENSP00000347385:R50W	R	+	1	2	PAX2	102499597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.438000	0.35002	0.829000	0.34733	0.655000	0.94253	CGG		0.687	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				4	109	0	0	0	1	0	4	109					T	102509607	C	T	102509607	3	4	224	1	0	0	0	0	1	0	0	0	11479	759	27	1	154	1	PAX2	10	102509607	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	2324190	102509607	33025140	29	27678											
MUC5B	727897	broad.mit.edu	37	chr11	1269135	1269135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccactgccccagcaccccGgccaccagctctacggccac	9	22	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:1269135G>A	ENST00000529681.1	+	31	11083	c.11025G>A	c.(11023-11025)ccG>ccA	p.P3675P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3678P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3675	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)		CCAGCACCCCGGCCACCAGCT	0.587																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11032-11034)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							82	102	95					11																	1269135		2021	4138	6159	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269135G>A	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.11025G>A	11.37:g.1269135G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3675P	p.P3678P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11092	+		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)	3675	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11034G>A	CCDS44515.2																																																																																				0.587	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		26	342	0	0	0	1	0	26	342					A	1269135	G	A	1269135	2	1	224	1	0	0	0	0	0	0	0	1	9979	1103	39	1		1	MUC5B	11	1269135	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		1269135	133737381	30	27679											
OR1S1	219959	broad.mit.edu	37	chr11	57982721	57982721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcctcagtaatattattGctctgacacacacccttctg	6	12	3	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:57982721G>A	ENST00000309433.6	+	1	505	c.505G>A	c.(505-507)Gct>Act	p.A169T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	169						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TAATATTATTGCTCTGACACA	0.478																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(505-507)Gct>Act		olfactory receptor, family 1, subfamily S, member 1							217	194	202					11																	57982721		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982721G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.505G>A	11.37:g.57982721G>A	ENSP00000311688:p.Ala169Thr						p.A169T	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	505	+		Breast(21;0.0589)	169					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.505G>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560544	0.27827	.	.	ENSG00000172774	ENST00000309433	T	0.39056	1.1	3.45	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.141282	0.32473	N	0.006054	T	0.39860	0.1094	L	0.41415	1.275	0.09310	N	0.999993	P	0.49358	0.923	P	0.51657	0.676	T	0.14309	-1.0477	10	0.66056	D	0.02	.	6.2948	0.21079	0.1098:0.0:0.6952:0.1949	.	169	Q8NH92	OR1S1_HUMAN	T	169	ENSP00000311688:A169T	ENSP00000311688:A169T	A	+	1	0	OR1S1	57739297	0.004000	0.15560	0.913000	0.36048	0.091000	0.18340	1.431000	0.34925	1.770000	0.52166	0.479000	0.44913	GCT		0.478	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		27	460	0	0	0	1	0	27	460					A	57982721	G	A	57982721	3	1	224	1	0	0	0	0	1	0	0	0	10972	1319	46	2	507	2	OR1S1	11	57982721	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	56713586	57982721	77023795	31	27680											
DDX47	51202	broad.mit.edu	37	chr12	12982412	12982414	+	In_Frame_Del	DEL	ATG	ATG	-													gcgagaggatgctggagataAtgatgacacagagggtgcta					rs370405455		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:12982412_12982414delATG	ENST00000358007.3	+	12	1314_1316	c.1292_1294delATG	c.(1291-1296)aatgat>aat	p.D433del	DDX47_ENST00000352940.4_In_Frame_Del_p.D384del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	433					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGAGATAATGATGACACAGA	0.453																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1291-1296)aat>a		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47																																				SO:0001651	inframe_deletion	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12982412_12982414delATG	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"DEAD-boxes"	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.1292_1294delATG	12.37:g.12982415_12982417delATG	ENSP00000350698:p.Asp433del					DDX47_ENST00000352940.4_In_Frame_Del_p.ND382del|RP11-59H1.3_ENST00000534843.1_3'UTR	p.ND431del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	12	1314_1316	+		Prostate(47;0.0526)	431					B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	In_Frame_Del	DEL	ENST00000358007.3	37	c.1292_1294delATG	CCDS8655.1																																																																																				0.453	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		32	69						32	69	---	---	---	---	-	12982414	ATG	-	12982412	7	5	224	1	0	1	0	1	0	0	0	0	4365	101	4	0	1338	0	DDX47	12	12982412	In_Frame_Del	DEL	ATG	TCGA-FG-A710-01A-12D-A33T-08		12982412	120869483	32	27681											
SYT10	341359	broad.mit.edu	37	chr12	33560040	33560040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcagggagatctaaagctTtgataattttaacaactaga	8	5	1	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:33560040T>C	ENST00000228567.3	-	3	1057	c.761A>G	c.(760-762)aAa>aGa	p.K254R	SYT10_ENST00000535526.1_Missense_Mutation_p.K73R|SYT10_ENST00000567656.1_5'Flank|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	254	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCTAAAGCTTTGATAATTTT	0.378																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(760-762)aAa>aGa		synaptotagmin X							57	55	56					12																	33560040		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33560040T>C	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.761A>G	12.37:g.33560040T>C	ENSP00000228567:p.Lys254Arg					SYT10_ENST00000535526.1_Missense_Mutation_p.K73R	p.K254R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			3	1057	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		254			C2 1.		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.761A>G	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.913811	0.72983	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.69175	-0.38;-0.38	4.94	4.94	0.65067	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.44097	U	0.000485	T	0.59115	0.2170	N	0.22421	0.69	0.58432	D	0.999994	B	0.33212	0.402	B	0.41691	0.364	T	0.59107	-0.7516	10	0.33940	T	0.23	.	14.4793	0.67570	0.0:0.0:0.0:1.0	.	254	Q6XYQ8	SYT10_HUMAN	R	254;73	ENSP00000228567:K254R;ENSP00000438691:K73R	ENSP00000228567:K254R	K	-	2	0	SYT10	33451307	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.874000	0.63064	2.153000	0.67306	0.460000	0.39030	AAA		0.378	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		49	72	0	0	0	1	0	49	72					C	33560040	T	C	33560040	3	2	224	1	0	0	0	0	1	0	0	0	15463	1841	64	3	830	3	SYT10	12	33560040	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	20577628	33560040	100291855	33	27682											
OR10A7	121364	broad.mit.edu	37	chr12	55615263	55615263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cataggctcttggatgtccgGtgttcctgtgtctatgctac	11	10	2	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:55615263G>C	ENST00000326258.1	+	1	455	c.455G>C	c.(454-456)gGt>gCt	p.G152A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	152						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						TGGATGTCCGGTGTTCCTGTG	0.493																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(454-456)gGt>gCt		olfactory receptor, family 10, subfamily A, member 7							158	134	142					12																	55615263		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615263G>C	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.455G>C	12.37:g.55615263G>C	ENSP00000326718:p.Gly152Ala						p.G152A	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	455	+			152					Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.455G>C	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	14.09	2.431604	0.43122	.	.	ENSG00000179919	ENST00000326258	T	0.35421	1.31	3.25	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.164687	0.27936	N	0.017241	T	0.51227	0.1662	M	0.67953	2.075	0.09310	N	0.999999	D	0.56035	0.974	P	0.60068	0.868	T	0.43589	-0.9382	10	0.59425	D	0.04	.	11.9078	0.52723	0.0:0.3362:0.6638:0.0	.	152	Q8NGE5	O10A7_HUMAN	A	152	ENSP00000326718:G152A	ENSP00000326718:G152A	G	+	2	0	OR10A7	53901530	0.789000	0.28775	0.995000	0.50966	0.900000	0.52787	1.817000	0.39002	0.700000	0.31782	0.637000	0.83480	GGT		0.493	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			6	173	0	0	0	1	0	6	173					C	55615263	G	C	55615263	3	2	224	1	0	0	0	0	1	0	0	0	10895	1261	44	4	457	4	OR10A7	12	55615263	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	22055223	55615263	78236632	34	27683											
XPOT	11260	broad.mit.edu	37	chr12	64828630	64828630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataagcacattgtccccGcatgtttcctagcaccttta	5	12	0	0	rs530887026		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:64828630G>A	ENST00000332707.5	+	21	3155	c.2626G>A	c.(2626-2628)Gca>Aca	p.A876T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	876	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.A876S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CATTGTCCCCGCATGTTTCCT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17214	0.0		0.0	False		,,,				2504	0.001					ENST00000332707.5																			1	Substitution - Missense(1)	p.A876S(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2626-2628)Gca>Aca		exportin, tRNA							149	142	144					12																	64828630		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64828630G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2626G>A	12.37:g.64828630G>A	ENSP00000327821:p.Ala876Thr						p.A876T	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	21	3155	+			876			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2626G>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169469	0.78452	.	.	ENSG00000184575	ENST00000332707	T	0.23147	1.92	5.29	5.29	0.74685	.	0.148824	0.64402	D	0.000011	T	0.21550	0.0519	L	0.46614	1.455	0.80722	D	1	P	0.41041	0.736	B	0.30316	0.114	T	0.03545	-1.1026	9	.	.	.	-8.5822	17.4857	0.87687	0.0:0.0:1.0:0.0	.	876	O43592	XPOT_HUMAN	T	876	ENSP00000327821:A876T	.	A	+	1	0	XPOT	63114897	1.000000	0.71417	0.360000	0.25837	0.985000	0.73830	9.655000	0.98512	2.663000	0.90544	0.555000	0.69702	GCA		0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		4	269	0	0	0	1	0	4	269					A	64828630	G	A	64828630	3	1	224	1	0	0	0	0	1	0	0	0	17447	1087	38	1	2704	1	XPOT	12	64828630	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	9213367	64828630	69023265	35	27684											
OSBPL8	114882	broad.mit.edu	37	chr12	76881291	76881291	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatatatgaactactcaccGaagttcgatcaggttctcca	6	11	4	1	rs142756436		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:76881291G>T	ENST00000261183.3	-	2	520	c.41C>A	c.(40-42)tCg>tAg	p.S14*	OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000552178.1_5'Flank|OSBPL8_ENST00000393249.2_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	14					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						ACTACTCACCGAAGTTCGATC	0.353																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.e2+1		oxysterol binding protein-like 8							96	80	85					12																	76881291		2203	4300	6503	SO:0001630	splice_region_variant	114882				lipid transport		lipid binding	g.chr12:76881291G>T	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.42+1C>A	12.37:g.76881291G>T						OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000393249.2_5'UTR	p.S14_splice	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			2	520	-			14					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Splice_Site	SNP	ENST00000261183.3	37	c.42_splice	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184080	0.94885	.	.	ENSG00000091039	ENST00000261183;ENST00000446075;ENST00000438913;ENST00000547540;ENST00000550628;ENST00000549646;ENST00000551927;ENST00000547544	.	.	.	5.4	-1.64	0.08318	.	2.511330	0.01361	N	0.012234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.8136	5.2735	0.15638	0.526:0.157:0.317:0.0	.	.	.	.	X	14	.	ENSP00000261183:S14X	S	-	2	0	OSBPL8	75405422	0.978000	0.34361	0.997000	0.53966	0.791000	0.44710	-0.153000	0.10144	0.011000	0.14865	-0.759000	0.03464	TCG		0.353	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	Nonsense_Mutation	4	79	1	0	0.000602214	1	0.000610244	4	79					T	76881291	G	T	76881291	5	4	224	1	0	0	0	0	0	0	1	0	11283	1072	37	4	2720	4	OSBPL8	12	76881291	Splice_Site	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	12052661	76881291	56970604	36	27685											
SLC25A15	10166	broad.mit.edu	37	chr13	41379349	41379349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgccggctgcagaccaTgtatgagatggagacatcag	14	8	1	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:41379349T>C	ENST00000338625.4	+	4	646	c.410T>C	c.(409-411)aTg>aCg	p.M137T	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	137					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)	CTGCAGACCATGTATGAGATG	0.542																																						ENST00000338625.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14						c.(409-411)aTg>aCg		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	L-Ornithine(DB00129)						98	89	92					13																	41379349		2203	4300	6503	SO:0001583	missense	10166				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr13:41379349T>C	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.410T>C	13.37:g.41379349T>C	ENSP00000342267:p.Met137Thr					SLC25A15_ENST00000478827.1_3'UTR	p.M137T	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN		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)	4	646	+		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	137					Q5VZD8|Q9HC45	Missense_Mutation	SNP	ENST00000338625.4	37	c.410T>C	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.285956	0.59867	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.77229	-1.08	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	L	0.39692	1.235	0.80722	D	1	B;B	0.32324	0.364;0.022	B;B	0.34931	0.192;0.021	T	0.73655	-0.3914	10	0.56958	D	0.05	.	14.9936	0.71412	0.0:0.0:0.0:1.0	.	77;137	B4DL63;Q9Y619	.;ORNT1_HUMAN	T	137;77	ENSP00000342267:M137T	ENSP00000342267:M137T	M	+	2	0	SLC25A15	40277349	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.941000	0.87700	2.141000	0.66446	0.528000	0.53228	ATG		0.542	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252		12	93	0	0	0	1	0	12	93					C	41379349	T	C	41379349	3	2	224	1	0	0	0	0	1	0	0	0	14477	1464	51	3	420	3	SLC25A15	13	41379349	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		41379349	73790529	37	27686											
TDRD3	81550	broad.mit.edu	37	chr13	61083925	61083925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagctctgaagcacataaCggaaatgggcttcagtaagg	12	7	2	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:61083925C>T	ENST00000196169.3	+	9	1396	c.608C>T	c.(607-609)aCg>aTg	p.T203M	TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M|TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	203	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.T203fs*21(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCACATAACGGAAATGGGC	0.418																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			1	Deletion - Frameshift(1)	p.T203fs*21(1)	breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(607-609)aCg>aTg		tudor domain containing 3							147	147	147					13																	61083925		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61083925C>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.608C>T	13.37:g.61083925C>T	ENSP00000196169:p.Thr203Met					TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M	p.T203M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	9	1396	+		Prostate(109;0.173)|Breast(118;0.174)	203			UBA.		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.608C>T	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307335	0.40795	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.72	4.87	0.63330	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.045500	0.85682	D	0.000000	T	0.21062	0.0507	N	0.02916	-0.46	0.54753	D	0.999983	D;D;P	0.89917	0.96;1.0;0.934	B;D;B	0.79108	0.346;0.992;0.398	T	0.32295	-0.9912	10	0.26408	T	0.33	-19.9998	14.1363	0.65289	0.0:0.9284:0.0:0.0716	.	296;202;203	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	M	203;203;203;296	ENSP00000196169:T203M;ENSP00000367113:T203M;ENSP00000367126:T203M;ENSP00000440190:T296M	ENSP00000196169:T203M	T	+	2	0	TDRD3	59981926	1.000000	0.71417	0.990000	0.47175	0.900000	0.52787	4.444000	0.60001	2.684000	0.91462	0.563000	0.77884	ACG		0.418	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		16	315	0	0	0	1	0	16	315					T	61083925	C	T	61083925	3	4	224	1	0	0	0	0	1	0	0	0	15729	536	19	1	921	1	TDRD3	13	61083925	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	19704576	61083925	54085953	38	27687											
ABCC11	85320	broad.mit.edu	37	chr16	48204026	48204026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctcaccttggagttgCgaagcacagccctggcaatg	13	12	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:48204026C>T	ENST00000394747.1	-	27	4230	c.3881G>A	c.(3880-3882)cGc>cAc	p.R1294H	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000565329.1_5'UTR|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H|ABCC11_ENST00000353782.5_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	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)	p.R1294H(1)		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)	CTTGGAGTTGCGAAGCACAGC	0.577																																						ENST00000394747.1																			1	Substitution - Missense(1)	p.R1294H(1)	endometrium(1)	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						c.(3880-3882)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							105	111	109					16																	48204026		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48204026C>T	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.3881G>A	16.37:g.48204026C>T	ENSP00000378230:p.Arg1294His					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000565329.1_5'UTR	p.R1294H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			27	4230	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1294			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3881G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512645	0.64522	.	.	ENSG00000121270	ENST00000356608;ENST00000394748;ENST00000394747	D;D;D	0.94092	-3.35;-3.35;-3.35	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.137032	0.50627	D	0.000114	D	0.93854	0.8034	L	0.60455	1.87	0.80722	D	1	D	0.59357	0.985	P	0.53146	0.719	D	0.94048	0.7315	10	0.59425	D	0.04	-3.3046	13.5802	0.61898	0.0:1.0:0.0:0.0	.	1294	Q96J66	ABCCB_HUMAN	H	1294	ENSP00000349017:R1294H;ENSP00000378231:R1294H;ENSP00000378230:R1294H	ENSP00000349017:R1294H	R	-	2	0	ABCC11	46761527	0.991000	0.36638	0.320000	0.25306	0.153000	0.21895	3.505000	0.53356	2.265000	0.75225	0.650000	0.86243	CGC		0.577	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	313	0	0	0	1	0	6	313					T	48204026	C	T	48204026	3	4	224	1	0	0	0	0	1	0	0	0	51	768	27	1	279	1	ABCC11	16	48204026	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		48204026	42150727	39	27688											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	9	16	1	1	rs201277640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000429149.2_Missense_Mutation_p.A208V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		5	329	0	0	0	1	0	5	329					T	70693984	C	T	70693984	3	4	224	1	0	0	0	0	1	0	0	0	7694	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	22489958	70693984	19660769	40	27689											
WDR59	79726	broad.mit.edu	37	chr16	74943721	74943721	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcatgcttcccaccAcaaaggactcaaggcaggag	9	12	2	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:74943721A>G	ENST00000262144.6	-	15	1614	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	495										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTTCCCACCACAAAGGACTC	0.498																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.e15+1		WD repeat domain 59							45	45	45					16																	74943721		2198	4300	6498	SO:0001630	splice_region_variant	79726							g.chr16:74943721A>G	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1485+1T>C	16.37:g.74943721A>G							p.V495_splice	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			15	1614	-			495					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Splice_Site	SNP	ENST00000262144.6	37	c.1485_splice	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191808	0.58017	.	.	ENSG00000103091	ENST00000262144	T	0.42131	0.98	5.65	5.65	0.86999	Ubiquitin-conjugating enzyme/RWD-like (1);	0.051074	0.85682	D	0.000000	T	0.32971	0.0847	L	0.36672	1.1	0.80722	D	1	B	0.29037	0.231	B	0.27608	0.081	T	0.11203	-1.0597	10	0.10636	T	0.68	-20.2792	16.1761	0.81851	1.0:0.0:0.0:0.0	rs5023505	495	Q6PJI9	WDR59_HUMAN	A	495	ENSP00000262144:V495A	ENSP00000262144:V495A	V	-	2	0	WDR59	73501222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.178000	0.94855	2.277000	0.76020	0.528000	0.53228	GTG		0.498	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	Missense_Mutation	4	96	0	0	0	1	0	4	96					G	74943721	A	G	74943721	5	3	224	1	0	0	0	0	0	0	1	0	17305	173	6	3	1488	3	WDR59	16	74943721	Splice_Site	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	4249737	74943721	15411032	41	27690											
MYH1	4619	broad.mit.edu	37	chr17	10401968	10401968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctggatggcatctgtctcat	9	15	3	0	rs142884848	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:10401968G>A	ENST00000226207.5	-	30	4250	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	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	1386					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						TCCTCTGTGCGCTGGATGGCA	0.483													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18116	0.0		0.001	False		,,,				2504	0.0					ENST00000226207.5																			0				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						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 1, skeletal muscle, adult		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	140	126	131		4156	5.4	1	17	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH1	NM_005963.3	180	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	1386/1940	10401968	4,13002	2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401968G>A		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.4156C>T	17.37:g.10401968G>A	ENSP00000226207:p.Arg1386Cys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1386C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			30	4250	-			1386					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4156C>T	CCDS11155.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.25	3.069033	0.55539	4.54E-4	2.33E-4	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.81078	-1.45	5.41	5.41	0.78517	Myosin tail (1);	0.000000	0.44097	U	0.000485	D	0.91016	0.7174	H	0.95004	3.61	0.80722	D	1	P	0.51057	0.941	P	0.53760	0.734	D	0.93191	0.6583	10	0.87932	D	0	.	19.5475	0.95305	0.0:0.0:1.0:0.0	.	1386	P12882	MYH1_HUMAN	C	1386;475	ENSP00000226207:R1386C	ENSP00000226207:R1386C	R	-	1	0	MYH1	10342693	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.942000	0.40243	2.696000	0.92011	0.655000	0.94253	CGC		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		117	145	0	0	0	1	0	117	145					A	10401968	G	A	10401968	3	1	224	1	0	0	0	0	1	0	0	0	10029	1087	38	1	1707	1	MYH1	17	10401968	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		10401968	70793242	42	27691											
ELAC2	60528	broad.mit.edu	37	chr17	12908353	12908353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaatgaagctttcatcTggacattctaccaccacaaa	7	10	3	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:12908353T>C	ENST00000338034.4	-	11	1175	c.936A>G	c.(934-936)ccA>ccG	p.P312P	ELAC2_ENST00000426905.3_Silent_p.P272P|ELAC2_ENST00000395962.2_Silent_p.P293P|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	312					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGCTTTCATCTGGACATTCTA	0.512																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.(934-936)ccA>ccG		elaC ribonuclease Z 2							209	200	203					17																	12908353		2203	4300	6503	SO:0001819	synonymous_variant	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12908353T>C	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.936A>G	17.37:g.12908353T>C						ELAC2_ENST00000395962.2_Silent_p.P293P|ELAC2_ENST00000426905.3_Silent_p.P272P	p.P312P	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			11	1175	-			312					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	c.936A>G	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529937	0.27387	.	.	ENSG00000006744	ENST00000446899	.	.	.	4.78	-8.16	0.01061	.	.	.	.	.	T	0.32194	0.0821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41305	-0.9516	4	.	.	.	-12.8208	0.5451	0.00652	0.3424:0.25:0.2319:0.1757	.	.	.	.	G	92	.	.	R	-	1	2	ELAC2	12849078	0.023000	0.18921	0.880000	0.34516	0.992000	0.81027	-1.055000	0.03493	-1.364000	0.02161	-0.250000	0.11733	AGA		0.512	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			37	310	0	0	0	1	0	37	310					C	12908353	T	C	12908353	2	2	224	1	0	0	0	0	0	0	0	1	5047	1567	55	3		3	ELAC2	17	12908353	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	2506385	12908353	68286857	43	27692											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274491	39274491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctcacagcagctggggCggcagcaggtctcctggcag	16	12	2	0	rs113376601	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39274491C>T	ENST00000391413.2	-	1	115	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627													c|||	514	0.102636	0.1815	0.121	5008	,	,		17390	0.1508		0.0169	False		,,,				2504	0.0215					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(76-78)cGc>cAc		keratin associated protein 4-11		T	HIS/ARG	207,1177		15,177,500	20	26	24		77	-4.5	0	17	dbSNP_132	24	48,3134		1,46,1544	yes	missense	KRTAP4-11	NM_033059.3	29	16,223,2044	TT,TC,CC		1.5085,14.9566,5.5848	benign	26/196	39274491	255,4311	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274491C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.77G>A	17.37:g.39274491C>T	ENSP00000375232:p.Arg26His						p.R26H	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	115	-		Breast(137;0.000496)	26			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.77G>A	CCDS45675.1	234	0.10714285714285714	86	0.17479674796747968	36	0.09944751381215469	98	0.17132867132867133	14	0.018469656992084433	.	3.849	-0.032146	0.07543	0.149566	0.015085	ENSG00000212721	ENST00000391413	T	0.00622	6.16	3.98	-4.52	0.03472	.	.	.	.	.	T	0.00012	0.0000	M	0.66560	2.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	8	0.45353	T	0.12	.	11.4199	0.49976	0.0:0.4348:0.0:0.5652	.	26	Q9BYQ6	KR411_HUMAN	H	26	ENSP00000375232:R26H	ENSP00000375232:R26H	R	-	2	0	KRTAP4-11	36528017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.694000	0.00057	-1.751000	0.01326	-2.283000	0.00269	CGC		0.627	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	80	0	0	0	1	0	7	80					T	39274491	C	T	39274491	3	4	224	1	0	0	0	0	1	0	0	0	8549	768	27	1	514	1	KRTAP4-11	17	39274491	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	26366138	39274491	41920719	44	27693											
HAP1	9001	broad.mit.edu	37	chr17	39884518	39884518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgacctcctgctgctgccGttcatagttttccagcctga	9	14	1	1	rs199907166		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39884518G>A	ENST00000310778.5	-	7	1144	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	HAP1_ENST00000393939.2_Missense_Mutation_p.R379W|HAP1_ENST00000347901.4_Missense_Mutation_p.R379W|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|RN7SL399P_ENST00000471648.2_RNA			P54257	HAP1_HUMAN	huntingtin-associated protein 1	379	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)			TGCTGCTGCCGTTCATAGTTT	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20003	0.0		0.0	False		,,,				2504	0.0					ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1135-1137)Cgg>Tgg		huntingtin-associated protein 1							48	42	44					17																	39884518		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39884518G>A	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.1135C>T	17.37:g.39884518G>A	ENSP00000309392:p.Arg379Trp					HAP1_ENST00000347901.4_Missense_Mutation_p.R379W|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|HAP1_ENST00000310778.5_Missense_Mutation_p.R379W|JUP_ENST00000540235.1_Intron	p.R379W			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		7	1144	-		Breast(137;0.000162)	379			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1135C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.33	2.801153	0.50315	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.14	2.07	0.26955	.	0.201432	0.24456	N	0.038377	T	0.42698	0.1214	L	0.57536	1.79	0.58432	D	0.999991	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.66084	0.915;0.941;0.915;0.913	T	0.27839	-1.0062	10	0.87932	D	0	-20.1231	4.947	0.13994	0.1115:0.0:0.6736:0.2149	.	379;387;379;379	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	W	379;379;379;387	ENSP00000377513:R379W;ENSP00000309392:R379W;ENSP00000334002:R379W;ENSP00000343170:R387W	ENSP00000309392:R379W	R	-	1	2	HAP1	37138044	0.617000	0.27043	0.412000	0.26496	0.576000	0.36127	0.685000	0.25378	0.379000	0.24794	-0.309000	0.09137	CGG		0.652	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		4	111	0	0	0	1	0	4	111					A	39884518	G	A	39884518	3	1	224	1	0	0	0	0	1	0	0	0	6953	1144	40	1	744	1	HAP1	17	39884518	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	610027	39884518	41310692	45	27694											
COL1A1	1277	broad.mit.edu	37	chr17	48265901	48265901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctacttacagtctcaccaCgatcaccactcttgccagca	5	16	3	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:48265901C>T	ENST00000225964.5	-	43	3315	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1066	Triple-helical region.		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils). {ECO:0000269|PubMed:17206620}.		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)	AGTCTCACCACGATCACCACT	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				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						c.(3196-3198)cGt>cAt		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						45	50	48					17																	48265901		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48265901C>T	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.3197G>A	17.37:g.48265901C>T	ENSP00000225964:p.Arg1066His						p.R1066H	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			43	3315	-			1066		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3197G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156406	0.78114	.	.	ENSG00000108821	ENST00000225964	D	0.93547	-3.24	4.64	4.64	0.57946	.	0.069140	0.56097	D	0.000024	D	0.96858	0.8974	M	0.86268	2.805	0.58432	D	0.999998	D	0.76494	0.999	D	0.85130	0.997	D	0.97707	1.0188	10	0.87932	D	0	.	16.2974	0.82783	0.0:1.0:0.0:0.0	.	1066	P02452	CO1A1_HUMAN	H	1066	ENSP00000225964:R1066H	ENSP00000225964:R1066H	R	-	2	0	COL1A1	45620900	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.027000	0.57239	2.148000	0.66965	0.313000	0.20887	CGT		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			24	57	0	0	0	1	0	24	57					T	48265901	C	T	48265901	3	4	224	1	0	0	0	0	1	0	0	0	3677	536	19	1	1233	1	COL1A1	17	48265901	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	8381383	48265901	32929309	46	27695											
LRRC45	201255	broad.mit.edu	37	chr17	79988540	79988540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagagcgagaacgcgtcTctccgggagaagctgcggct	17	10	1	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:79988540T>C	ENST00000306688.3	+	17	2214	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	624						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGAACGCGTCTCTCCGGGAGA	0.701																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(1870-1872)tcT>tcC		leucine rich repeat containing 45							9	12	11					17																	79988540		2137	4220	6357	SO:0001819	synonymous_variant	201255					centrosome		g.chr17:79988540T>C	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1872T>C	17.37:g.79988540T>C							p.S624S	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		17	2214	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		624						Silent	SNP	ENST00000306688.3	37	c.1872T>C	CCDS11797.1																																																																																				0.701	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		9	12	0	0	0	1	0	9	12					C	79988540	T	C	79988540	2	2	224	1	0	0	0	0	0	0	0	1	9002	1538	54	3		3	LRRC45	17	79988540	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	31722639	79988540	1206670	47	27696											
ANKRD29	147463	broad.mit.edu	37	chr18	21226219	21226219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagtctatgtggccagcGtaggcagcaaccatcaggag	12	11	2	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr18:21226219G>A	ENST00000592179.1	-	3	319	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	55										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTGGCCAGCGTAGGCAGCAA	0.512																																						ENST00000592179.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13						c.(163-165)taC>taT		ankyrin repeat domain 29							100	84	90					18																	21226219		2203	4300	6503	SO:0001819	synonymous_variant	147463							g.chr18:21226219G>A	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.165C>T	18.37:g.21226219G>A						ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN			3	319	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		55					B2R972|Q6ZWE8|Q96LU9	Silent	SNP	ENST00000592179.1	37	c.165C>T	CCDS11879.1																																																																																				0.512	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		13	86	0	0	0	1	0	13	86					A	21226219	G	A	21226219	2	1	224	1	0	0	0	0	0	0	0	1	657	1140	40	1		1	ANKRD29	18	21226219	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		21226219	56851029	48	27697											
SEMA6B	10501	broad.mit.edu	37	chr19	4550875	4550875	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggggacttctgctctcGgaagcggccttcaaacacag	12	13	3	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:4550875G>A	ENST00000586582.1	-	11	1367	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	353	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)		TTCTGCTCTCGGAAGCGGCCT	0.627																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1057-1059)Cga>Tga		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							56	59	58					19																	4550875		2203	4300	6503	SO:0001587	stop_gained	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550875G>A	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.1057C>T	19.37:g.4550875G>A	ENSP00000467290:p.Arg353*					SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*	p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1367	-		Hepatocellular(1079;0.137)	353			Sema.		A5PKU4|F6IB19|Q9NRK9	Nonsense_Mutation	SNP	ENST00000586582.1	37	c.1057C>T	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	37	6.555384	0.97658	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	.	.	.	3.61	3.61	0.41365	.	0.126644	0.49916	U	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.9052	0.41372	0.0:0.0:0.7957:0.2043	.	.	.	.	X	353	.	ENSP00000301292:R353X	R	-	1	2	SEMA6B	4501875	0.982000	0.34865	0.998000	0.56505	0.969000	0.65631	2.587000	0.46128	2.039000	0.60335	0.478000	0.44815	CGA		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		7	145	0	0	0	1	0	7	145					A	4550875	G	A	4550875	4	1	224	1	0	0	0	0	0	1	0	0	14040	1124	39	1	1637	1	SEMA6B	19	4550875	Nonsense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		4550875	54578108	49	27698											
CHST8	64377	broad.mit.edu	37	chr19	34180275	34180275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctgcaggaccctacggaGctcgccccccagcaggtgcc	12	18	0	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:34180275G>T	ENST00000262622.4	+	2	866	c.108G>T	c.(106-108)gaG>gaT	p.E36D	CHST8_ENST00000438847.3_Missense_Mutation_p.E36D|CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_3'UTR	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	36					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCCTACGGAGCTCGCCCCCC	0.637																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(106-108)gaG>gaT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							83	84	84					19																	34180275		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180275G>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.108G>T	19.37:g.34180275G>T	ENSP00000262622:p.Glu36Asp					CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000438847.2_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_Missense_Mutation_p.E36D	p.E36D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			2	866	+	Esophageal squamous(110;0.162)		36					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.108G>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738514	0.30774	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73789	-0.78;-0.78;-0.78	5.39	1.77	0.24775	.	0.248894	0.28600	N	0.014774	T	0.54062	0.1835	L	0.27053	0.805	0.28584	N	0.90998	B	0.17667	0.023	B	0.14578	0.011	T	0.43212	-0.9405	10	0.44086	T	0.13	-33.082	3.0094	0.06039	0.3321:0.2235:0.4445:0.0	.	36	Q9H2A9	CHST8_HUMAN	D	36	ENSP00000392604:E36D;ENSP00000393879:E36D;ENSP00000262622:E36D	ENSP00000262622:E36D	E	+	3	2	CHST8	38872115	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	1.550000	0.36223	1.275000	0.44379	-0.185000	0.12909	GAG		0.637	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		8	121	1	0	1.26484e-09	1	1.33511e-09	8	121					T	34180275	G	T	34180275	3	4	224	1	0	0	0	0	1	0	0	0	3410	962	34	4	110	4	CHST8	19	34180275	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	29629400	34180275	24948708	50	27699											
CIC	23152	broad.mit.edu	37	chr19	42791799	42791799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaccaggacaaccggAccgtcagcaagatcctgggc	10	15	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:42791799A>C	ENST00000575354.2	+	5	725	c.685A>C	c.(685-687)Acc>Ccc	p.T229P	CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000572681.2_Missense_Mutation_p.T1138P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	229					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)				GGACAACCGGACCGTCAGCAA	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3412-3414)Acc>Ccc		capicua transcriptional repressor							82	75	78					19																	42791799		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791799A>C	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.685A>C	19.37:g.42791799A>C	ENSP00000458663:p.Thr229Pro					CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000575354.2_Missense_Mutation_p.T229P	p.T1138P			Q96RK0	CIC_HUMAN			6	3480	+		Prostate(69;0.00682)	229			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3412A>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078792	0.55753	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.76169	0.3950	M	0.72353	2.195	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.78996	-0.1983	8	0.87932	D	0	-14.1814	11.626	0.51145	1.0:0.0:0.0:0.0	.	229	Q96RK0	CIC_HUMAN	P	229	.	ENSP00000160740:T229P	T	+	1	0	CIC	47483639	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.773000	0.68898	1.853000	0.53794	0.454000	0.30748	ACC		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			45	18	0	0	0	1	0	45	18					C	42791799	A	C	42791799	3	2	224	1	0	0	0	0	1	0	0	0	3424	275	10	5	703	5	CIC	19	42791799	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	8611524	42791799	16337184	51	27700											
XRCC1	390940	broad.mit.edu	37	chr19	44079106	44079106	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcctgccttggctgcccGccattttcggtaagtgtctg	11	14	1	0	rs552435216		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:44079106G>A	ENST00000599207.1	+	0	0				L34079.4_ENST00000600242.1_RNA|L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000543982.1_Intron|XRCC1_ENST00000262887.5_Missense_Mutation_p.R34W	NM_001193621.1	NP_001180550.1	A6NC86	PINLY_HUMAN	phospholipase A2 inhibitor and LY6/PLAUR domain containing							extracellular region (GO:0005576)	phospholipase inhibitor activity (GO:0004859)										TTGGCTGCCCGCCATTTTCGG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18409	0.0		0.0	False		,,,				2504	0.0					ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(100-102)Cgg>Tgg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							105	85	92					19																	44079106		2203	4300	6503	SO:0001631	upstream_gene_variant	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44079106G>A		CCDS58667.1, CCDS74385.1	19q13.31	2012-07-20			ENSG00000234465	ENSG00000234465			44206	protein-coding gene	gene with protein product							Standard	NM_001193621		Approved		uc021uvg.1	A6NC86	OTTHUMG00000175560		19.37:g.44079106G>A	Exception_encountered					L34079.4_ENST00000600242.1_RNA|XRCC1_ENST00000543982.1_Intron|L34079.2_ENST00000594374.1_Intron	p.R34W			P18887	XRCC1_HUMAN			2	647	-		Prostate(69;0.0153)	34					B7Z457|O95053	Missense_Mutation	SNP	ENST00000599207.1	37	c.100C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.120171	0.77323	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000538738	T	0.26373	1.74	3.55	3.55	0.40652	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.065974	0.64402	D	0.000015	T	0.36082	0.0954	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.10965	-1.0607	10	0.66056	D	0.02	-21.3525	10.9379	0.47255	0.0:0.0:1.0:0.0	.	34	P18887	XRCC1_HUMAN	W	48;34;34	ENSP00000262887:R34W	ENSP00000262887:R34W	R	-	1	2	XRCC1	48770946	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.370000	0.34238	2.300000	0.77407	0.655000	0.94253	CGG		0.552	PINLYP-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463346.2	NM_001193621		3	51	0	0	0	1	0	3	51					A	44079106	G	A	44079106	1	1	224	0	1	0	0	0	0	0	0	0	17449	1086	38	1		1	XRCC1	19	44079106	5'Flank	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	1287307	44079106	15049877	52	27701											
XRN2	22803	broad.mit.edu	37	chr20	21346317	21346317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accggaggcctgtgcacctgGatcaggcagccttcaggact	13	13	2	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:21346317G>A	ENST00000377191.3	+	26	2526	c.2431G>A	c.(2431-2433)Gat>Aat	p.D811N	XRN2_ENST00000430571.2_Missense_Mutation_p.D735N|XRN2_ENST00000539513.1_Missense_Mutation_p.D757N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	811					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						TGTGCACCTGGATCAGGCAGC	0.473																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2431-2433)Gat>Aat		5'-3' exoribonuclease 2							109	113	112					20																	21346317		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346317G>A	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.2431G>A	20.37:g.21346317G>A	ENSP00000366396:p.Asp811Asn					XRN2_ENST00000539513.1_Missense_Mutation_p.D757N|XRN2_ENST00000430571.2_Missense_Mutation_p.D735N	p.D811N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			26	2526	+			811					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2431G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827105	0.71143	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.32753	1.45;1.44;1.44	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	L	0.56769	1.78	0.80722	D	1	B	0.23806	0.091	B	0.18263	0.021	T	0.05162	-1.0902	10	0.35671	T	0.21	-22.2309	20.1731	0.98165	0.0:0.0:1.0:0.0	.	811	Q9H0D6	XRN2_HUMAN	N	811;735;757	ENSP00000366396:D811N;ENSP00000413548:D735N;ENSP00000441113:D757N	ENSP00000366396:D811N	D	+	1	0	XRN2	21294317	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.182000	0.77689	2.768000	0.95171	0.655000	0.94253	GAT		0.473	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		4	191	0	0	0	1	0	4	191					A	21346317	G	A	21346317	3	1	224	1	0	0	0	0	1	0	0	0	17457	1174	41	2	2533	2	XRN2	20	21346317	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		21346317	41679203	53	27702											
ADNP	23394	broad.mit.edu	37	chr20	49509063	49509063	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatcatcatctaactttcGttttttcagtaagggaaatt	5	7	4	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:49509063G>A	ENST00000396029.3	-	5	2755	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	730					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTAACTTTCGTTTTTTCAGT	0.443																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2188-2190)Cga>Tga		activity-dependent neuroprotector homeobox							81	80	81					20																	49509063		2203	4300	6503	SO:0001587	stop_gained	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509063G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2188C>T	20.37:g.49509063G>A	ENSP00000379346:p.Arg730*					ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	p.R730*	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	2755	-			730					E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	ENST00000396029.3	37	c.2188C>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	41	9.105260	0.99068	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	2.77	0.32553	.	0.046201	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7209	10.9823	0.47501	0.0702:0.0:0.616:0.3138	.	.	.	.	X	730	.	ENSP00000342905:R730X	R	-	1	2	ADNP	48942470	0.906000	0.30813	0.985000	0.45067	0.800000	0.45204	1.126000	0.31344	0.893000	0.36288	-0.140000	0.14226	CGA		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		20	197	0	0	0	1	0	20	197					A	49509063	G	A	49509063	4	1	224	1	0	0	0	0	0	1	0	0	323	1153	40	1	1124	1	ADNP	20	49509063	Nonsense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	28162746	49509063	13516457	54	27703											
KRTAP19-8	728299	broad.mit.edu	37	chr21	32410673	32410673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccaacctgcggaagctGccatagccgcagccatagcc	10	16	0	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:32410673G>A	ENST00000382822.2	-	1	122	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	30						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						TGCGGAAGCTGCCATAGCCGC	0.537																																						ENST00000382822.2																			0				endometrium(2)|upper_aerodigestive_tract(1)	3						c.(88-90)ggC>ggT		keratin associated protein 19-8							92	112	105					21																	32410673		2203	4300	6503	SO:0001819	synonymous_variant	728299					intermediate filament		g.chr21:32410673G>A	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.90C>T	21.37:g.32410673G>A							p.G30G	NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN			1	122	-			30						Silent	SNP	ENST00000382822.2	37	c.90C>T	CCDS42917.1																																																																																				0.537	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		24	252	0	0	0	1	0	24	252					A	32410673	G	A	32410673	2	1	224	1	0	0	0	0	0	0	0	1	8535	1306	46	2		2	KRTAP19-8	21	32410673	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		32410673	15719222	55	27704											
BRWD1	54014	broad.mit.edu	37	chr21	40570895	40570895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtcactcagaatcttgGtttttttaaagaaactcgca	7	8	3	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:40570895G>T	ENST00000333229.2	-	40	5774	c.5447C>A	c.(5446-5448)aCc>aAc	p.T1816N	BRWD1_ENST00000342449.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					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)		p.T1816N(2)		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)				CAGAATCTTGGTTTTTTTAAA	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			2	Substitution - Missense(2)	p.T1816N(2)	large_intestine(2)	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						c.(5446-5448)aCc>aAc		bromodomain and WD repeat domain containing 1							121	123	122					21																	40570895		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40570895G>T	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.5447C>A	21.37:g.40570895G>T	ENSP00000330753:p.Thr1816Asn					BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000333229.2_Missense_Mutation_p.T1816N	p.T1816N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5525	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1816					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5447C>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966851	0.34659	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54071	0.59;0.61;0.69	5.48	5.48	0.80851	.	0.374434	0.25820	N	0.028090	T	0.45357	0.1338	L	0.29908	0.895	0.80722	D	1	P;B	0.34757	0.467;0.072	B;B	0.34652	0.187;0.032	T	0.49254	-0.8959	10	0.66056	D	0.02	-3.482	17.5514	0.87876	0.0:0.0:1.0:0.0	.	1816;1816	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	1816	ENSP00000330753:T1816N;ENSP00000344333:T1816N;ENSP00000370178:T1816N	ENSP00000330753:T1816N	T	-	2	0	BRWD1	39492765	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.508000	0.53378	2.576000	0.86940	0.655000	0.94253	ACC		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		20	309	1	0	1.00905e-13	1	1.08011e-13	20	309					T	40570895	G	T	40570895	3	4	224	1	0	0	0	0	1	0	0	0	1525	1261	44	4	1766	4	BRWD1	21	40570895	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	8160222	40570895	7559000	56	27705											
TRPM2	7226	broad.mit.edu	37	chr21	45855028	45855028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggaaccccatgggccGcacaggactgcgtgggcgcg	15	15	0	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:45855028G>A	ENST00000397928.1	+	28	4434	c.3989G>A	c.(3988-3990)cGc>cAc	p.R1330H	snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1276H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1380H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1330H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1330					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						CCCATGGGCCGCACAGGACTG	0.667																																						ENST00000397928.1																			0				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						c.(3988-3990)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							90	86	87					21																	45855028		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45855028G>A	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.3989G>A	21.37:g.45855028G>A	ENSP00000381023:p.Arg1330His					TRPM2_ENST00000300481.9_Missense_Mutation_p.R1276H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1330H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1380H	p.R1330H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			28	4434	+			1330					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3989G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003951	0.74932	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.77750	-1.12;-1.12;2.24;-1.12	4.85	4.85	0.62838	NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000001	D	0.90758	0.7099	M	0.92317	3.295	0.48762	D	0.999705	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.87578	0.998;0.956;0.819;0.936	D	0.92961	0.6389	10	0.72032	D	0.01	-24.4413	17.0962	0.86635	0.0:0.0:1.0:0.0	.	11;1380;1116;1330	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	H	1330;1330;1276;1380;74	ENSP00000300482:R1330H;ENSP00000381023:R1330H;ENSP00000300481:R1276H;ENSP00000381026:R1380H	ENSP00000300481:R1276H	R	+	2	0	TRPM2	44679456	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.071000	0.41500	2.416000	0.81992	0.536000	0.68110	CGC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	190	0	0	0	1	0	4	190					A	45855028	G	A	45855028	3	1	224	1	0	0	0	0	1	0	0	0	16583	1087	38	1	4099	1	TRPM2	21	45855028	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	5284133	45855028	2274867	57	27706											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46020910	46020910	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaagcctgtgtactGtgtgcctgtctgcagtgggg	15	10	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:46020910G>C	ENST00000380102.2	+	1	414	c.389G>C	c.(388-390)tGt>tCt	p.C130S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	130	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGTGTACTGTGTGCCTGTC	0.632																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(388-390)tGt>tCt		keratin associated protein 10-7							172	167	169					21																	46020910		2188	4300	6488	SO:0001583	missense	386675					keratin filament		g.chr21:46020910G>C	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.389G>C	21.37:g.46020910G>C	ENSP00000369445:p.Cys130Ser					TSPEAR_ENST00000323084.4_Intron	p.C130S	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	414	+			130			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.389G>C		.	.	.	.	.	.	.	.	.	.	N	4.017	0.000517	0.07819	.	.	ENSG00000205441	ENST00000380102	T	0.02682	4.2	3.43	1.45	0.22620	.	.	.	.	.	T	0.05318	0.0141	M	0.86178	2.8	0.24591	N	0.993829	P	0.40909	0.732	B	0.34779	0.189	T	0.20538	-1.0272	9	0.66056	D	0.02	.	7.4489	0.27227	0.0:0.184:0.6262:0.1898	.	125	P60409-2	.	S	130	ENSP00000369445:C130S	ENSP00000369445:C130S	C	+	2	0	KRTAP10-7	44845338	0.947000	0.32204	0.002000	0.10522	0.002000	0.02628	1.804000	0.38873	0.239000	0.21243	-0.367000	0.07326	TGT		0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		22	446	0	0	0	1	0	22	446					C	46020910	G	C	46020910	3	2	224	1	0	0	0	0	1	0	0	0	8514	1377	48	4	380	4	KRTAP10-7	21	46020910	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	165882	46020910	2108985	58	27707											
EFCAB6	64800	broad.mit.edu	37	chr22	44079702	44079702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaataactttgtgatgatGttttccttgtgagattcatt	7	5	1	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr22:44079702G>A	ENST00000262726.7	-	12	1429	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	EFCAB6_ENST00000396231.2_Silent_p.N240N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	392					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)				TTGTGATGATGTTTTCCTTGT	0.348																																						ENST00000262726.7																			0				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						c.(1174-1176)aaC>aaT		EF-hand calcium binding domain 6							278	253	261					22																	44079702		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44079702G>A	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.1176C>T	22.37:g.44079702G>A						EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.N240N	p.N392N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			12	1429	-		Ovarian(80;0.0247)|all_neural(38;0.025)	392					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.1176C>T	CCDS14049.1																																																																																				0.348	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		5	196	0	0	0	1	0	5	196					A	44079702	G	A	44079702	2	1	224	1	0	0	0	0	0	0	0	1	4939	1368	48	2		2	EFCAB6	22	44079702	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		44079702	7224864	59	27708											
SH3KBP1	30011	broad.mit.edu	37	chrX	19713790	19713790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccgactcccctgacagctCcttgatgaagttggaaggaa	10	11	0	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:19713790C>T	ENST00000397821.3	-	5	750	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	154	SH3 2. {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						CCTGACAGCTCCTTGATGAAG	0.512																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(460-462)Gag>Aag		SH3-domain kinase binding protein 1							151	125	134					X																	19713790		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713790C>T	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.460G>A	X.37:g.19713790C>T	ENSP00000380921:p.Glu154Lys					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K	p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			5	750	-			154			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.460G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474082	0.96291	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.94	5.94	0.96194	Src homology-3 domain (3);Variant SH3 (1);	0.624487	0.17368	N	0.176783	T	0.50905	0.1643	L	0.46885	1.475	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.986;0.995	T	0.24012	-1.0172	10	0.28530	T	0.3	-21.29	19.2985	0.94132	0.0:1.0:0.0:0.0	.	154;117	Q96B97;Q5JPT5	SH3K1_HUMAN;.	K	95;154;62;117;90;154;101;62	ENSP00000380921:E154K;ENSP00000369020:E117K;ENSP00000369049:E90K;ENSP00000369019:E154K;ENSP00000388766:E101K;ENSP00000409292:E62K	ENSP00000369019:E154K	E	-	1	0	SH3KBP1	19623711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.214000	0.77958	2.509000	0.84616	0.529000	0.55759	GAG		0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		5	240	0	0	0	1	0	5	240					T	19713790	C	T	19713790	3	4	224	1	0	0	0	0	1	0	0	0	14255	864	30	2	1609	2	SH3KBP1	23	19713790	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		19713790	135556770	60	27709											
WNK3	65267	broad.mit.edu	37	chrX	54259292	54259292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaggactgggggcggcttCgaagtttgcttttgaaagat	14	6	1	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:54259292C>T	ENST00000375159.2	-	20	4789	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000354646.2_Missense_Mutation_p.R1597Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1597					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						GGGGCGGCTTCGAAGTTTGCT	0.418																																						ENST00000354646.2																			0				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						c.(4789-4791)cGa>cAa		WNK lysine deficient protein kinase 3							126	117	120					X																	54259292		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54259292C>T	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.4790G>A	X.37:g.54259292C>T	ENSP00000364301:p.Arg1597Gln					WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q	p.R1597Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			21	5228	-			1550					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4790G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188772	0.94923	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.74737	-0.82;-0.87;-0.87	5.69	5.69	0.88448	.	0.000000	0.47093	D	0.000254	D	0.85309	0.5667	M	0.69823	2.125	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.83929	0.0305	10	0.34782	T	0.22	-7.2961	17.4246	0.87522	0.0:1.0:0.0:0.0	.	1550;1597	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1550;1597;1597	ENSP00000364312:R1550Q;ENSP00000346667:R1597Q;ENSP00000364301:R1597Q	ENSP00000346667:R1597Q	R	-	2	0	WNK3	54276017	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	6.466000	0.73543	2.383000	0.81215	0.594000	0.82650	CGA		0.418	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		92	150	0	0	0	1	0	92	150					T	54259292	C	T	54259292	3	4	224	1	0	0	0	0	1	0	0	0	17376	884	31	1	628	1	WNK3	23	54259292	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	34545502	54259292	101011268	61	27710											
NAP1L2	4674	broad.mit.edu	37	chrX	72433964	72433964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttggattctaaattggccGctctagtttgaagcttttta	8	6	2	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:72433964G>A	ENST00000373517.3	-	1	720	c.365C>T	c.(364-366)gCg>gTg	p.A122V	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	122					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAAATTGGCCGCTCTAGTTTG	0.373																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(364-366)gCg>gTg		nucleosome assembly protein 1-like 2							124	117	119					X																	72433964		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433964G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.365C>T	X.37:g.72433964G>A	ENSP00000362616:p.Ala122Val					NAP1L2_ENST00000536638.1_5'UTR	p.A122V	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	720	-	Renal(35;0.156)		122					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.365C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	6.668	0.491719	0.12702	.	.	ENSG00000186462	ENST00000373517	T	0.40756	1.02	3.31	1.32	0.21799	.	0.224165	0.46758	N	0.000265	T	0.17959	0.0431	N	0.12182	0.205	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.06180	-1.0841	10	0.17369	T	0.5	-2.1775	3.5636	0.07892	0.2349:0.2434:0.5216:0.0	.	122	Q9ULW6	NP1L2_HUMAN	V	122	ENSP00000362616:A122V	ENSP00000362616:A122V	A	-	2	0	NAP1L2	72350689	0.979000	0.34478	0.997000	0.53966	0.992000	0.81027	1.806000	0.38892	0.188000	0.20168	0.600000	0.82982	GCG		0.373	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		90	155	0	0	0	1	0	90	155					A	72433964	G	A	72433964	3	1	224	1	0	0	0	0	1	0	0	0	10157	1087	38	1	1021	1	NAP1L2	23	72433964	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	18174672	72433964	82836596	62	27711											
ABCB7	22	broad.mit.edu	37	chrX	74290346	74290346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccattactagatctccaaCagtaagggtaccttaaaagg	7	10	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:74290346C>A	ENST00000373394.3	-	10	1226	c.1219G>T	c.(1219-1221)Gtt>Ttt	p.V407F	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F|ABCB7_ENST00000253577.3_Missense_Mutation_p.V408F			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	407	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AGATCTCCAACAGTAAGGGTA	0.358																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1222-1224)Gtt>Ttt		ATP-binding cassette, sub-family B (MDR/TAP), member 7							106	101	103					X																	74290346		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74290346C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1219G>T	X.37:g.74290346C>A	ENSP00000362492:p.Val407Phe					ABCB7_ENST00000373394.3_Missense_Mutation_p.V407F|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F	p.V408F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			10	1246	-			407			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1222G>T		.	.	.	.	.	.	.	.	.	.	C	18.97	3.735792	0.69189	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.112693	0.64402	D	0.000012	D	0.95526	0.8546	M	0.89840	3.065	0.58432	D	0.999999	P;D;D;P;D	0.71674	0.725;0.99;0.992;0.767;0.998	B;D;D;P;D	0.74348	0.426;0.962;0.978;0.562;0.983	D	0.95894	0.8909	10	0.87932	D	0	-1.7655	10.759	0.46253	0.0:0.9115:0.0:0.0885	.	381;367;408;407;408	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	F	381;408;367;407;381	ENSP00000253577:V408F;ENSP00000343849:V367F;ENSP00000362492:V407F;ENSP00000436586:V381F	ENSP00000253577:V408F	V	-	1	0	ABCB7	74207071	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	4.657000	0.61490	2.257000	0.74773	0.600000	0.82982	GTT		0.358	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		13	273	1	0	0.00185496	1	0.00185496	13	273					A	74290346	C	A	74290346	3	1	224	1	0	0	0	0	1	0	0	0	46	478	17	4	1067	4	ABCB7	23	74290346	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	1856382	74290346	80980214	63	27712											
SAGE1	55511	broad.mit.edu	37	chrX	134988634	134988634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaccagcacctgataaCgtgttgttgactcttcgacc	8	13	1	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:134988634C>T	ENST00000370709.3	+	6	660	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SAGE1_ENST00000324447.3_Silent_p.N220N|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.N220N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	220						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)					CACCTGATAACGTGTTGTTGA	0.423																																						ENST00000535938.1																			0				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						c.(658-660)aaC>aaT		sarcoma antigen 1							204	168	180					X																	134988634		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134988634C>T	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.660C>T	X.37:g.134988634C>T						SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.N220N|SAGE1_ENST00000324447.3_Silent_p.N220N	p.N220N	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			7	827	+	Acute lymphoblastic leukemia(192;0.000127)		220					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.660C>T	CCDS14652.1																																																																																				0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		150	513	0	0	0	1	0	150	513					T	134988634	C	T	134988634	2	4	224	1	0	0	0	0	0	0	0	1	13809	535	19	1		1	SAGE1	23	134988634	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	60698288	134988634	20281926	64	27713											
RBMX	27316	broad.mit.edu	37	chrX	135957425	135957425	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcacttacctatatccTcttgatggatagtcatcacg	6	10	4	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:135957425T>C	ENST00000320676.7	-	7	928	c.774A>G	c.(772-774)agA>agG	p.R258R	RBMX_ENST00000565438.1_Silent_p.R130R|RBMX_ENST00000570135.1_Silent_p.R123R|RBMX_ENST00000431446.3_Missense_Mutation_p.E150G|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Silent_p.R258R	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	258					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)			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)					ACCTATATCCTCTTGATGGAT	0.393																																						ENST00000431446.3																			0				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						c.(448-450)gAg>gGg		RNA binding motif protein, X-linked							120	95	104					X																	135957425		2203	4300	6503	SO:0001819	synonymous_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135957425T>C		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.774A>G	X.37:g.135957425T>C						RBMX_ENST00000562646.1_Silent_p.R258R|RBMX_ENST00000570135.1_Silent_p.R123R|RBMX_ENST00000320676.7_Silent_p.R258R|RBMX_ENST00000565438.1_Silent_p.R130R	p.E150G	NM_001164803.1	NP_001158275.1	P38159	HNRPG_HUMAN			5	603	-	Acute lymphoblastic leukemia(192;0.000127)		0					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.449A>G	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152622	0.57259	.	.	ENSG00000147274	ENST00000431446	T	0.08458	3.09	5.6	5.6	0.85130	.	.	.	.	.	T	0.08268	0.0206	.	.	.	0.80722	D	1	B	0.26445	0.149	B	0.20384	0.029	T	0.09618	-1.0666	8	0.87932	D	0	.	9.7035	0.40200	0.0:0.0885:0.0:0.9115	.	150	B4E3U4	.	G	150	ENSP00000411989:E150G	ENSP00000411989:E150G	E	-	2	0	RBMX	135785091	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.938000	0.40203	1.990000	0.58119	0.486000	0.48141	GAG		0.393	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		4	276	0	0	0	1	0	4	276					C	135957425	T	C	135957425	2	2	224	1	0	0	0	0	0	0	0	1	13151	1551	54	3		3	RBMX	23	135957425	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	968791	135957425	19313135	65	27714											
MTMR1	8776	broad.mit.edu	37	chrX	149924318	149924318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattattatgtacgatggaAtccacggatgagacctcagg	10	7	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:149924318A>G	ENST00000370390.3	+	14	1971	c.1814A>G	c.(1813-1815)aAt>aGt	p.N605S	MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000445323.2_Missense_Mutation_p.N613S|MTMR1_ENST00000538506.1_3'UTR	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	605					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)					GTACGATGGAATCCACGGATG	0.343																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1837-1839)aAt>aGt		myotubularin related protein 1							153	135	141					X																	149924318		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149924318A>G	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.1814A>G	X.37:g.149924318A>G	ENSP00000359417:p.Asn605Ser					MTMR1_ENST00000370390.3_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000538506.1_3'UTR	p.N613S			Q13613	MTMR1_HUMAN			15	1959	+	Acute lymphoblastic leukemia(192;6.56e-05)		605					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1838A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971388	0.53614	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.64	5.64	0.86602	.	0.089331	0.85682	D	0.000000	D	0.93226	0.7842	M	0.73753	2.245	0.80722	D	1	D;B	0.76494	0.999;0.056	P;B	0.62184	0.899;0.016	D	0.93506	0.6849	10	0.54805	T	0.06	.	14.812	0.70003	1.0:0.0:0.0:0.0	.	605;613	Q13613;F8WA39	MTMR1_HUMAN;.	S	511;605;613;605	ENSP00000441879:N511S;ENSP00000359417:N605S;ENSP00000414178:N613S;ENSP00000440534:N605S	ENSP00000359417:N605S	N	+	2	0	MTMR1	149674976	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.962000	0.93254	1.880000	0.54463	0.486000	0.48141	AAT		0.343	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		79	119	0	0	0	1	0	79	119					G	149924318	A	G	149924318	3	3	224	1	0	0	0	0	1	0	0	0	9938	101	4	3	1868	3	MTMR1	23	149924318	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	13966893	149924318	5346242	66	27715											
CLCNKB	1188	broad.mit.edu	37	chr1	16375046	16375046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcggcggcagtgggCgtggccacagtctttgcagc	18	11	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:16375046C>T	ENST00000375679.4	+	7	735	c.624C>T	c.(622-624)ggC>ggT	p.G208G	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	208					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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		CGGCAGTGGGCGTGGCCACAG	0.657																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(622-624)ggC>ggT		chloride channel, voltage-sensitive Kb							35	39	38					1																	16375046		2203	4298	6501	SO:0001819	synonymous_variant	1188							g.chr1:16375046C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.624C>T	1.37:g.16375046C>T							p.G208G	NM_000085.4	NP_000076.2				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)	7	735	+		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)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.624C>T	CCDS168.1																																																																																				0.657	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		21	50	0	0	0	1	0	21	50					T	16375046	C	T	16375046	2	4	225	1	0	0	0	0	0	0	0	1	3470	755	27	1		1	CLCNKB	1	16375046	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		16375046	232875575	1	27716											
AMPD1	270	broad.mit.edu	37	chr1	115231189	115231189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacaccacttacctcctggCttctgtggaggtggacagag	11	11	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:115231189C>A	ENST00000520113.2	-	3	322	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S|AMPD1_ENST00000369538.3_Missense_Mutation_p.A99S			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	103					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TACCTCCTGGCTTCTGTGGAG	0.468																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(295-297)Gcc>Tcc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						107	103	105					1																	115231189		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231189C>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.307G>T	1.37:g.115231189C>A	ENSP00000430075:p.Ala103Ser					AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S|AMPD1_ENST00000520113.2_Missense_Mutation_p.A103S	p.A99S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		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)	2	342	-	all_epithelial(7;7.83e-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)	70					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.295G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	6.826	0.521645	0.13005	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.38077	1.16;1.16;1.16	5.91	4.05	0.47172	.	0.874022	0.10191	N	0.704683	T	0.06096	0.0158	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	0.39251	-0.9623	10	0.10902	T	0.67	-0.7728	10.1324	0.42687	0.0:0.8472:0.0:0.1528	.	99;70	Q5TF02;P23109	.;AMPD1_HUMAN	S	103;99;70	ENSP00000430075:A103S;ENSP00000358551:A99S;ENSP00000316520:A70S	ENSP00000316520:A70S	A	-	1	0	AMPD1	115032712	0.021000	0.18746	0.272000	0.24630	0.526000	0.34562	0.686000	0.25392	0.840000	0.34995	0.650000	0.86243	GCC		0.468	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			7	206	1	0	2.0095e-06	1	2.08302e-06	7	206					A	115231189	C	A	115231189	3	1	225	1	0	0	0	0	1	0	0	0	585	797	28	4	2091	4	AMPD1	1	115231189	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	98856143	115231189	134019432	2	27717											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	124	0	0	0	1	0	4	124					T	153907309	C	T	153907309	2	4	225	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	38676120	153907309	95343312	3	27718											
OR2T5	401993	broad.mit.edu	37	chr1	248651994	248651994	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctacttagtgtggtcatCtttgtggttttcctgaaggc	11	8	3	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488																																						ENST00000366473.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9						c.(103-105)atC>atA		olfactory receptor, family 2, subfamily T, member 5							124	142	136					1																	248651994		2199	4298	6497	SO:0001819	synonymous_variant	401993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248651994C>A	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"GPCR / Class A : Olfactory receptors"	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.105C>A	1.37:g.248651994C>A							p.I35I	NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	110	+	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)		35						Silent	SNP	ENST00000366473.2	37	c.105C>A	CCDS31118.1																																																																																				0.488	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		9	332	1	0	1.41608e-15	1	1.52363e-15	9	332					A	248651994	C	A	248651994	2	1	225	1	0	0	0	0	0	0	0	1	11028	903	32	4		4	OR2T5	1	248651994	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	94744685	248651994	598627	4	27719											
ODC1	4953	broad.mit.edu	37	chr2	10582221	10582221	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagctgatgcaacatagtatCtgccgggctcagctatgatt	10	9	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:10582221C>A	ENST00000234111.4	-	9	1340	c.830G>T	c.(829-831)aGa>aTa	p.R277I	ODC1_ENST00000405333.1_Missense_Mutation_p.R277I|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	277					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	AACATAGTATCTGCCGGGCTC	0.433																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(829-831)aGa>aTa		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						88	87	87					2																	10582221		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582221C>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.830G>T	2.37:g.10582221C>A	ENSP00000234111:p.Arg277Ile					ODC1_ENST00000405333.1_Missense_Mutation_p.R277I	p.R277I	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1340	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		277					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.830G>T	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603119	0.96614	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.70516	-0.49;-0.49	5.79	5.79	0.91817	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94386	0.7609	10	0.87932	D	0	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	277	P11926	DCOR_HUMAN	I	277;277;148	ENSP00000234111:R277I;ENSP00000385333:R277I	ENSP00000234111:R277I	R	-	2	0	ODC1	10499672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.770000	0.85390	2.740000	0.93945	0.563000	0.77884	AGA		0.433	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			120	103	1	0	2.54773e-45	1	2.81243e-45	120	103					A	10582221	C	A	10582221	3	1	225	1	0	0	0	0	1	0	0	0	10825	913	32	4	571	4	ODC1	2	10582221	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		10582221	232617152	5	27720											
GALNT14	79623	broad.mit.edu	37	chr2	31167747	31167747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggctccgtggggtccagGcgccgagccttctgctctgg	16	13	2	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:31167747G>A	ENST00000349752.5	-	8	1443	c.804C>T	c.(802-804)cgC>cgT	p.R268R	GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.R235R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000324589.5_Silent_p.R273R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	268					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)					TGGGGTCCAGGCGCCGAGCCT	0.587																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(802-804)cgC>cgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							63	63	63					2																	31167747		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31167747G>A	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.804C>T	2.37:g.31167747G>A						GALNT14_ENST00000324589.5_Silent_p.R273R|GALNT14_ENST00000356174.3_Silent_p.R235R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000486564.1_5'UTR	p.R268R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			8	1443	-	Acute lymphoblastic leukemia(172;0.155)		268					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.804C>T	CCDS1773.2																																																																																				0.587	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		38	73	0	0	0	1	0	38	73					A	31167747	G	A	31167747	2	1	225	1	0	0	0	0	0	0	0	1	6212	1190	42	2		2	GALNT14	2	31167747	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	20585526	31167747	212031626	6	27721											
SLC9A4	389015	broad.mit.edu	37	chr2	103120021	103120021	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggggcttggaggggtaTtgtttggcatcgtttttgga	17	3	0	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:103120021T>C	ENST00000295269.4	+	3	1292	c.835T>C	c.(835-837)Ttg>Ctg	p.L279L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	279					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGAGGGGTATTGTTTGGCAT	0.398																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(835-837)Ttg>Ctg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							352	328	336					2																	103120021		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120021T>C		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.835T>C	2.37:g.103120021T>C							p.L279L	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			3	1292	+			279					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.835T>C	CCDS33264.1																																																																																				0.398	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		65	94	0	0	0	1	0	65	94					C	103120021	T	C	103120021	2	2	225	1	0	0	0	0	0	0	0	1	14716	1490	52	3		3	SLC9A4	2	103120021	Silent	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	71952274	103120021	140079352	7	27722											
LASS6	253782	broad.mit.edu	37	chr2	169626053	169626053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagtgatattgagtctAgctcagatgaggaggactca	12	6	3	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:169626053A>G	ENST00000305747.6	+	10	1623	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	CERS6_ENST00000392687.4_Missense_Mutation_p.S354G|CERS6-AS1_ENST00000425636.2_RNA	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	346					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TATTGAGTCTAGCTCAGATGA	0.502																																						ENST00000305747.6																			0											c.(1036-1038)Agc>Ggc		ceramide synthase 6							114	109	111					2																	169626053		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169626053A>G	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1036A>G	2.37:g.169626053A>G	ENSP00000306579:p.Ser346Gly					CERS6_ENST00000392687.4_Missense_Mutation_p.S354G	p.S346G	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			10	1623	+			346					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.1036A>G	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531797	0.85706	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.13089	2.82;2.62	5.97	5.97	0.96955	.	0.117031	0.85682	D	0.000000	T	0.22627	0.0546	M	0.78344	2.41	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.01472	-1.1346	10	0.52906	T	0.07	-4.471	16.43	0.83839	1.0:0.0:0.0:0.0	.	354;346	Q32M63;Q6ZMG9	.;CERS6_HUMAN	G	346;354	ENSP00000306579:S346G;ENSP00000376453:S354G	ENSP00000306579:S346G	S	+	1	0	CERS6	169334299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.932000	0.75869	2.283000	0.76528	0.533000	0.62120	AGC		0.502	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		21	144	0	0	0	1	0	21	144					G	169626053	A	G	169626053	3	3	225	1	0	0	0	0	1	0	0	0	8643	420	15	3	1074	3	LASS6	2	169626053	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	66506032	169626053	73573320	8	27723											
DYNC1I2	1781	broad.mit.edu	37	chr2	172585349	172585349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgtgtacacagcatgCcgccatggcaggtaaaccta	11	11	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:172585349C>T	ENST00000397119.3	+	14	1547	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C	DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000409317.1_Silent_p.C454C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000534253.2_Silent_p.C460C|DYNC1I2_ENST00000340296.4_Silent_p.C434C|DYNC1I2_ENST00000508530.1_Silent_p.C434C	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	460					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)			ACACAGCATGCCGCCATGGCA	0.388																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1378-1380)tgC>tgT		dynein, cytoplasmic 1, intermediate chain 2							73	66	68					2																	172585349		1866	4112	5978	SO:0001819	synonymous_variant	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172585349C>T	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.1380C>T	2.37:g.172585349C>T						DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000397119.3_Silent_p.C460C|DYNC1I2_ENST00000508530.1_Silent_p.C434C|DYNC1I2_ENST00000409317.1_Silent_p.C454C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000340296.4_Silent_p.C434C	p.C460C			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		14	1548	+			460					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	ENST00000397119.3	37	c.1380C>T	CCDS46450.1																																																																																				0.388	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		3	35	0	0	0	1	0	3	35					T	172585349	C	T	172585349	2	4	225	1	0	0	0	0	0	0	0	1	4843	747	26	2		2	DYNC1I2	2	172585349	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	2959296	172585349	70614024	9	27724											
SGOL2	151246	broad.mit.edu	37	chr2	201438253	201438253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcccttttgtggaagaaAtaaaagaaggagagtgtcag	11	5	2	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:201438253A>G	ENST00000357799.4	+	7	3282	c.3184A>G	c.(3184-3186)Ata>Gta	p.I1062V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1062					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGTGGAAGAAATAAAAGAAGG	0.378																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(3184-3186)Ata>Gta		shugoshin-like 2 (S. pombe)							75	74	74					2																	201438253		1810	4074	5884	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438253A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3184A>G	2.37:g.201438253A>G	ENSP00000350447:p.Ile1062Val						p.I1062V	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3282	+			1062					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3184A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.008070	0.07773	.	.	ENSG00000163535	ENST00000357799	T	0.10573	2.86	5.16	-4.16	0.03869	.	1.344680	0.04912	N	0.453376	T	0.03608	0.0103	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.41980	-0.9478	10	0.06494	T	0.89	2.187	6.7223	0.23336	0.3536:0.0:0.5043:0.1422	.	1062;1062;1062	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	V	1062	ENSP00000350447:I1062V	ENSP00000350447:I1062V	I	+	1	0	SGOL2	201146498	0.002000	0.14202	0.000000	0.03702	0.028000	0.11728	0.183000	0.16919	-0.490000	0.06707	0.528000	0.53228	ATA		0.378	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		82	133	0	0	0	1	0	82	133					G	201438253	A	G	201438253	3	3	225	1	0	0	0	0	1	0	0	0	14217	101	4	3	3206	3	SGOL2	2	201438253	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	28852904	201438253	41761120	10	27725											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			53	112	0	0	0	1	0	53	112					T	209113112	C	T	209113112	3	4	225	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	7674859	209113112	34086261	11	27726											
ATG4B	23192	broad.mit.edu	37	chr2	242594686	242594686	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtatctgttccctgcagCgcaaatgggagttggcgaag	14	8	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:242594686C>A	ENST00000404914.3	+	6	489	c.386C>A	c.(385-387)gCg>gAg	p.A129E	ATG4B_ENST00000402096.1_Splice_Site_p.A55E|ATG4B_ENST00000474739.2_Splice_Site_p.A115E|ATG4B_ENST00000396411.3_Splice_Site_p.A55E|ATG4B_ENST00000405546.3_Splice_Site_p.A129E	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	129					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TTCCCTGCAGCGCAAATGGGA	0.597																																					Melanoma(78;458 1323 6342 12171 39523)	ENST00000405546.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.e6-1		autophagy related 4B, cysteine peptidase							119	122	121					2																	242594686		2087	4178	6265	SO:0001630	splice_region_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242594686C>A	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.386-1C>A	2.37:g.242594686C>A						ATG4B_ENST00000404914.3_Splice_Site_p.A129_splice|ATG4B_ENST00000402096.1_Splice_Site_p.A55_splice|ATG4B_ENST00000396411.3_Splice_Site_p.A55_splice|ATG4B_ENST00000474739.2_Splice_Site_p.A115_splice	p.A129_splice			Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	6	888	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	129					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Splice_Site	SNP	ENST00000404914.3	37	c.385_splice	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454989	0.84209	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000419606;ENST00000474739;ENST00000396411;ENST00000425239;ENST00000430617;ENST00000429899;ENST00000311517	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.13	5.13	0.70059	.	0.051819	0.85682	D	0.000000	T	0.66076	0.2753	M	0.79343	2.45	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.999;0.996;0.997	D;D;D;D;D	0.78314	0.969;0.989;0.982;0.987;0.991	T	0.68059	-0.5509	9	.	.	.	.	17.3459	0.87309	0.0:1.0:0.0:0.0	.	115;246;217;129;55	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	E	129;246;55;129;55;115;55;129;55;55;55	ENSP00000383964:A129E;ENSP00000384661:A55E;ENSP00000384259:A129E;ENSP00000400050:A55E;ENSP00000442378:A115E;ENSP00000379692:A55E;ENSP00000409895:A129E;ENSP00000407389:A55E;ENSP00000410526:A55E	.	A	+	2	0	ATG4B	242243359	1.000000	0.71417	0.975000	0.42487	0.689000	0.40095	6.575000	0.74018	2.404000	0.81709	0.462000	0.41574	GCG		0.597	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325	Missense_Mutation	3	23	1	0	0.150653	1	0.150653	3	23					A	242594686	C	A	242594686	5	1	225	1	0	0	0	0	0	0	1	0	1097	782	27	4	408	4	ATG4B	2	242594686	Splice_Site	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	33481574	242594686	604687	12	27727											
CDCP1	64866	broad.mit.edu	37	chr3	45134906	45134906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagagcctcccgggcagaagGagccgaagtacaggtcctgg	15	11	0	2	rs374678265		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:45134906G>A	ENST00000296129.1	-	6	1624	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	497	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGGGCAGAAGGAGCCGAAGTA	0.597																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1489-1491)tCc>tTc		CUB domain containing protein 1		G	PHE/SER	0,4406		0,0,2203	93	84	87		1490	-0.7	1	3		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDCP1	NM_022842.3	155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	497/837	45134906	1,13005	2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45134906G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1490C>T	3.37:g.45134906G>A	ENSP00000296129:p.Ser497Phe						p.S497F	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1624	-			497			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1490C>T	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	2.031	-0.422385	0.04734	0.0	1.16E-4	ENSG00000163814	ENST00000296129	T	0.24538	1.85	5.7	-0.705	0.11252	.	0.879352	0.10399	N	0.679357	T	0.14570	0.0352	L	0.36672	1.1	0.54753	D	0.999986	B	0.06786	0.001	B	0.08055	0.003	T	0.28299	-1.0048	10	0.09843	T	0.71	.	4.2712	0.10787	0.2919:0.0:0.2435:0.4645	.	497	Q9H5V8	CDCP1_HUMAN	F	497	ENSP00000296129:S497F	ENSP00000296129:S497F	S	-	2	0	CDCP1	45109910	0.079000	0.21365	0.968000	0.41197	0.232000	0.25224	0.104000	0.15313	-0.135000	0.11495	-1.036000	0.02392	TCC		0.597	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		37	80	0	0	0	1	0	37	80					A	45134906	G	A	45134906	3	1	225	1	0	0	0	0	1	0	0	0	3093	1174	41	2	1036	2	CDCP1	3	45134906	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		45134906	152887524	13	27728											
KALRN	8997	broad.mit.edu	37	chr3	123987699	123987699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagtggatcgaactgcGgctctccctggaggagttct	15	9	2	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:123987699G>A	ENST00000240874.3	+	5	717	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q|KALRN_ENST00000360013.3_Missense_Mutation_p.R187Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	187					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						ATCGAACTGCGGCTCTCCCTG	0.602																																						ENST00000360013.3																			0				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						c.(559-561)cGg>cAg		kalirin, RhoGEF kinase							63	62	62					3																	123987699		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987699G>A	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.560G>A	3.37:g.123987699G>A	ENSP00000240874:p.Arg187Gln					KALRN_ENST00000240874.3_Missense_Mutation_p.R187Q|KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q	p.R187Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			5	687	+			187					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.560G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.744702|5.744702	0.96882|0.96882	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000448253;ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Cellular retinaldehyde-binding/triple function, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59418|0.59418	0.2192|0.2192	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.91635	.|0.995;0.968;0.999	T|T	0.64202|0.64202	-0.6463|-0.6463	5|10	.|0.66056	.|D	.|0.02	.|.	19.5125|19.5125	0.95148|0.95148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|187;187;187	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|Q	215;165|187	.|ENSP00000418611:R187Q;ENSP00000240874:R187Q;ENSP00000353109:R187Q	.|ENSP00000240874:R187Q	G|R	+|+	1|2	0|0	KALRN|KALRN	125470389|125470389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.657000|9.657000	0.98554|0.98554	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	78	0	0	0	1	0	4	78					A	123987699	G	A	123987699	3	1	225	1	0	0	0	0	1	0	0	0	7975	1116	39	1	578	1	KALRN	3	123987699	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	78852793	123987699	74034731	14	27729											
PGM2	55276	broad.mit.edu	37	chr4	37857282	37857282	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttcacctttgctaatggAggcgtggccaccatgcgcac	10	14	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:37857282A>G	ENST00000381967.4	+	13	1756	c.1656A>G	c.(1654-1656)ggA>ggG	p.G552G	PGM2_ENST00000537241.1_Silent_p.G392G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	552					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|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)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTGCTAATGGAGGCGTGGCCA	0.468																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1654-1656)ggA>ggG		phosphoglucomutase 2							101	91	95					4																	37857282		2203	4300	6503	SO:0001819	synonymous_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37857282A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1656A>G	4.37:g.37857282A>G						PGM2_ENST00000537241.1_Silent_p.G392G	p.G552G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			13	1756	+			552					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	c.1656A>G	CCDS3443.1																																																																																				0.468	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		4	149	0	0	0	1	0	4	149					G	37857282	A	G	37857282	2	3	225	1	0	0	0	0	0	0	0	1	11798	291	11	3		3	PGM2	4	37857282	Silent	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		37857282	153296994	15	27730											
MTTP	4547	broad.mit.edu	37	chr4	100540154	100540154	+	Frame_Shift_Del	DEL	A	A	-													cttcagttacaatctggactAaaagccaatatagaggtcca							TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:100540154delA	ENST00000265517.5	+	16	2444	c.2241delA	c.(2239-2241)ctafs	p.L747fs	MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs|MTTP_ENST00000457717.1_Frame_Shift_Del_p.L747fs|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	747					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AATCTGGACTAAAAGCCAATA	0.348																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2239-2241)ctfs		microsomal triglyceride transfer protein	Hesperetin(DB01094)						140	142	141					4																	100540154		2203	4300	6503	SO:0001589	frameshift_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100540154delA		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2241delA	4.37:g.100540154delA	ENSP00000265517:p.Leu747fs					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Frame_Shift_Del_p.L747fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs	p.L747fs	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	17	2497	+			747					A8K428|Q08AM4|Q6P5T3	Frame_Shift_Del	DEL	ENST00000265517.5	37	c.2241delA	CCDS3651.1																																																																																				0.348	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			21	263						21	263	---	---	---	---	-	100540154	A	-	100540154	7	5	225	1	0	1	0	1	0	0	0	0	9964	349	13	0	2303	0	MTTP	4	100540154	Frame_Shift_Del	DEL	A	TCGA-FG-A711-01A-21D-A33T-08	62682872	100540154	90614122	16	27731											
TACR3	6870	broad.mit.edu	37	chr4	104640397	104640397	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaccactcgctatgaagcgCgtagatgaaattgaccaacg	10	10	0	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:104640397C>G	ENST00000304883.2	-	1	576	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	146					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTATGAAGCGCGTAGATGAAA	0.532																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(436-438)Gcg>Ccg		tachykinin receptor 3							105	96	99					4																	104640397		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640397C>G	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.436G>C	4.37:g.104640397C>G	ENSP00000303325:p.Ala146Pro						p.A146P	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	576	-		Hepatocellular(203;0.217)	146					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.436G>C	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866399	0.91511	.	.	ENSG00000169836	ENST00000304883	T	0.39056	1.1	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.123056	0.56097	D	0.000040	T	0.66268	0.2772	M	0.79258	2.445	0.53005	D	0.99996	D	0.76494	0.999	D	0.70716	0.97	T	0.69957	-0.5004	10	0.62326	D	0.03	.	17.8687	0.88804	0.0:1.0:0.0:0.0	.	146	P29371	NK3R_HUMAN	P	146	ENSP00000303325:A146P	ENSP00000303325:A146P	A	-	1	0	TACR3	104859846	1.000000	0.71417	0.993000	0.49108	0.909000	0.53808	7.455000	0.80726	2.446000	0.82766	0.591000	0.81541	GCG		0.532	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		38	62	0	0	0	1	0	38	62					G	104640397	C	G	104640397	3	3	225	1	0	0	0	0	1	0	0	0	15504	768	27	4	981	4	TACR3	4	104640397	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	4100243	104640397	86513879	17	27732											
PTCD2	79810	broad.mit.edu	37	chr5	71638862	71638862	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catagcctgcattaatttaaAtgtaagtgatttctttatgg	7	5	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:71638862A>G	ENST00000380639.5	+	8	843	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTCD2_ENST00000503868.1_Splice_Site_p.N167S|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Splice_Site_p.N104S	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	276					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATTAATTTAAATGTAAGTGAT	0.269																																						ENST00000380639.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.e8+1		pentatricopeptide repeat domain 2							63	63	63					5																	71638862		2203	4297	6500	SO:0001630	splice_region_variant	79810							g.chr5:71638862A>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.828+1A>G	5.37:g.71638862A>G						PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Splice_Site_p.N104_splice|PTCD2_ENST00000503868.1_Splice_Site_p.N167_splice	p.N276_splice	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	8	843	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	276					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Splice_Site	SNP	ENST00000380639.5	37	c.828_splice	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743371	0.30865	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.47	5.47	0.80525	.	0.215093	0.49305	D	0.000151	T	0.49218	0.1544	M	0.75447	2.3	0.32372	N	0.55578	P;P;P	0.47910	0.902;0.873;0.651	P;B;B	0.45881	0.496;0.356;0.112	T	0.64567	-0.6377	10	0.40728	T	0.16	.	13.078	0.59097	1.0:0.0:0.0:0.0	.	167;104;276	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	S	276;167;105;104	ENSP00000370013:N276S;ENSP00000427349:N167S;ENSP00000426295:N105S;ENSP00000444772:N104S	ENSP00000308948:N276S	N	+	2	0	PTCD2	71674618	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	5.603000	0.67619	2.085000	0.62840	0.477000	0.44152	AAT		0.269	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	Missense_Mutation	17	140	0	0	0	1	0	17	140					G	71638862	A	G	71638862	5	3	225	1	0	0	0	0	0	0	1	0	12728	115	4	3	857	3	PTCD2	5	71638862	Splice_Site	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		71638862	109276398	18	27733											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttaatattgatgaaggcGcaaaaagtggcccactaatt	8	7	0	2	rs367799631		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:79734068G>A	ENST00000338008.5	+	3	1744	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					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)	p.A522T(1)		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)		TGATGAAGGCGCAAAAAGTGG	0.353																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			1	Substitution - Missense(1)	p.A522T(1)	lung(1)	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						c.(1564-1566)Gca>Aca		zinc finger, FYVE domain containing 16		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	74	78	76		1564,1564	3.2	0.9	5		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZFYVE16	NM_001105251.1,NM_014733.3	58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	522/1540,522/1540	79734068	2,13004	2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79734068G>A	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.1564G>A	5.37:g.79734068G>A	ENSP00000337159:p.Ala522Thr					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T	p.A522T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	3	1744	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	522					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.1564G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	5.330	0.246272	0.10130	2.27E-4	1.16E-4	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.37584	1.19;1.19;1.19	5.63	3.24	0.37175	.	0.414834	0.25634	N	0.029328	T	0.15739	0.0379	N	0.08118	0	0.09310	N	0.999997	B;B	0.29671	0.0;0.254	B;B	0.19148	0.001;0.024	T	0.15983	-1.0418	10	0.25106	T	0.35	-1.1587	8.9058	0.35523	0.8526:0.0:0.1474:0.0	.	522;522	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	T	522	ENSP00000337159:A522T;ENSP00000423663:A522T;ENSP00000426848:A522T	ENSP00000337159:A522T	A	+	1	0	ZFYVE16	79769824	0.025000	0.19082	0.873000	0.34254	0.161000	0.22273	0.582000	0.23834	0.512000	0.28257	-1.004000	0.02495	GCA		0.353	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	191	0	0	0	1	0	4	191					A	79734068	G	A	79734068	3	1	225	1	0	0	0	0	1	0	0	0	17661	1087	38	1	1570	1	ZFYVE16	5	79734068	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	8095206	79734068	101181192	19	27734											
CHD1	1105	broad.mit.edu	37	chr5	98232063	98232063	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccatataattgatgtTcatgaaacaaataattcaga	6	5	2	3	rs531435864		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:98232063T>A	ENST00000284049.3	-	11	1726	c.1577A>T	c.(1576-1578)gAa>gTa	p.E526V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	526	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)	TAATTGATGTTCATGAAACAA	0.368																																						ENST00000284049.3																			0				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						c.(1576-1578)gAa>gTa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						93	97	96					5																	98232063		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98232063T>A	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.1577A>T	5.37:g.98232063T>A	ENSP00000284049:p.Glu526Val						p.E526V	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	11	1726	-		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)	526			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1577A>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.738290	0.49045	.	.	ENSG00000153922	ENST00000284049	D	0.93604	-3.25	5.12	5.12	0.69794	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34411	U	0.003997	D	0.86777	0.6014	N	0.12569	0.235	0.80722	D	1	B	0.20988	0.05	B	0.24701	0.055	T	0.82748	-0.0304	10	0.27785	T	0.31	.	15.2078	0.73192	0.0:0.0:0.0:1.0	.	526	O14646	CHD1_HUMAN	V	526	ENSP00000284049:E526V	ENSP00000284049:E526V	E	-	2	0	CHD1	98259963	1.000000	0.71417	0.975000	0.42487	0.901000	0.52897	7.628000	0.83189	2.052000	0.61016	0.477000	0.44152	GAA		0.368	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		28	134	0	0	0	1	0	28	134					A	98232063	T	A	98232063	3	1	225	1	0	0	0	0	1	0	0	0	3323	1783	62	5	3655	5	CHD1	5	98232063	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	18497995	98232063	82683197	20	27735											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725473	140725473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgggtctgcacacgggcGaggtgcgcacggcgcgagcc	19	13	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:140725473G>A	ENST00000253812.6	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	625	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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACACGGGCGAGGTGCGCAC	0.701																																						ENST00000253812.6																			0				breast(1)	1						c.(1873-1875)Gag>Aag									8	12	11					5																	140725473		1991	3987	5978	SO:0001583	missense	0							g.chr5:140725473G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1873G>A	5.37:g.140725473G>A	ENSP00000253812:p.Glu625Lys					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E625K	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1873	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1873G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	32	5.180380	0.94846	.	.	ENSG00000254245	ENST00000253812	T	0.53206	0.63	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	0.000000	0.33515	U	0.004833	T	0.75824	0.3902	M	0.90542	3.125	0.43793	D	0.996331	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.81143	-0.1067	10	0.87932	D	0	.	18.9241	0.92537	0.0:0.0:1.0:0.0	.	625;625	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	K	625	ENSP00000253812:E625K	ENSP00000253812:E625K	E	+	1	0	PCDHGA3	140705657	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.599000	0.74127	2.636000	0.89361	0.558000	0.71614	GAG		0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		9	150	0	0	0	1	0	9	150					A	140725473	G	A	140725473	3	1	225	1	0	0	0	0	1	0	0	0	11555	1059	37	1	1875	1	PCDHGA3	5	140725473	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	42493410	140725473	40189787	21	27736											
KIAA0319	9856	broad.mit.edu	37	chr6	24582557	24582557	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggcttattaaattccattCatagttgtaggttgtttctg	9	5	2	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:24582557C>T	ENST00000378214.3	-	6	1635	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000535378.1_Missense_Mutation_p.E362K	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	371	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAATTCCATTCATAGTTGTAG	0.388																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(1084-1086)Gaa>Aaa		KIAA0319							254	245	248					6																	24582557		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24582557C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1111G>A	6.37:g.24582557C>T	ENSP00000367459:p.Glu371Lys					KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E371K	p.E362K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			7	1726	-			371			PKD 1.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1084G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365007	0.82463	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08282	3.11;3.12;3.12;3.12;3.12	4.29	3.39	0.38822	PKD/Chitinase domain (1);Fibronectin, type III (1);	0.160733	0.41938	D	0.000786	T	0.18800	0.0451	M	0.78223	2.4	0.51233	D	0.999915	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.85130	0.997;0.992;0.995	T	0.00688	-1.1609	10	0.48119	T	0.1	-16.5734	12.5965	0.56472	0.0:0.917:0.0:0.083	.	371;362;371	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	K	371;362;326;371;371	ENSP00000439700:E371K;ENSP00000442403:E362K;ENSP00000401086:E326K;ENSP00000367459:E371K;ENSP00000437656:E371K	ENSP00000367459:E371K	E	-	1	0	KIAA0319	24690536	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.369000	0.52365	2.191000	0.70037	0.484000	0.47621	GAA		0.388	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		80	176	0	0	0	1	0	80	176					T	24582557	C	T	24582557	3	4	225	1	0	0	0	0	1	0	0	0	8168	835	29	2	2171	2	KIAA0319	6	24582557	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		24582557	146532510	22	27737											
GSTA2	2939	broad.mit.edu	37	chr6	52616504	52616504	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttgtccgtggctctttaaGacctggagaatgggaggaat	13	7	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:52616504G>T	ENST00000493422.1	-	6	572	c.417C>A	c.(415-417)gtC>gtA	p.V139V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	139	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGCTCTTTAAGACCTGGAGAA	0.542																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)gtC>gtA		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						125	112	116					6																	52616504		2203	4300	6503	SO:0001819	synonymous_variant	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52616504G>T	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"Glutathione S-transferases / Soluble"	4627	protein-coding gene	gene with protein product		138360	"glutathione S-transferase A2"	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.417C>A	6.37:g.52616504G>T							p.V139V	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			6	572	-	Lung NSC(77;0.118)		139			GST C-terminal.		Q12759|Q16491|Q9NTY6	Silent	SNP	ENST00000493422.1	37	c.417C>A	CCDS4944.1																																																																																				0.542	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		83	129	1	0	7.49063e-41	1	8.16287e-41	83	129					T	52616504	G	T	52616504	2	4	225	1	0	0	0	0	0	0	0	1	6831	929	33	4		4	GSTA2	6	52616504	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	28033947	52616504	118498563	23	27738											
NT5DC1	221294	broad.mit.edu	37	chr6	116544280	116544280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacttaccaagtcagagacCtttccggacactcggtaagt	8	13	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:116544280C>T	ENST00000319550.4	+	8	870	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	263							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)		AGTCAGAGACCTTTCCGGACA	0.398																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(787-789)cCt>cTt		5'-nucleotidase domain containing 1							123	120	121					6																	116544280		2203	4300	6503	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116544280C>T	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.788C>T	6.37:g.116544280C>T	ENSP00000326858:p.Pro263Leu						p.P263L	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	8	870	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	263					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.788C>T	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113423	0.56398	.	.	ENSG00000178425	ENST00000319550	T	0.25912	1.77	4.87	3.99	0.46301	HAD-like domain (1);	0.114194	0.64402	D	0.000010	T	0.19208	0.0461	L	0.61387	1.9	0.80722	D	1	B;P;P	0.37398	0.345;0.593;0.473	B;P;B	0.44477	0.429;0.451;0.283	T	0.02365	-1.1170	10	0.19590	T	0.45	-8.3972	12.506	0.55981	0.0:0.9174:0.0:0.0826	.	213;263;263	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	L	263	ENSP00000326858:P263L	ENSP00000326858:P263L	P	+	2	0	NT5DC1	116650973	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.131000	0.57970	2.271000	0.75665	0.555000	0.69702	CCT		0.398	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		77	152	0	0	0	1	0	77	152					T	116544280	C	T	116544280	3	4	225	1	0	0	0	0	1	0	0	0	10690	681	24	2	818	2	NT5DC1	6	116544280	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	63927776	116544280	54570787	24	27739											
CCR6	1235	broad.mit.edu	37	chr6	167550306	167550306	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacacccaaggcagcgatgtCtgtgaacccaagtaccagac	9	13	1	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:167550306C>T	ENST00000341935.5	+	3	1140	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CCR6_ENST00000349984.4_Silent_p.V196V|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	196					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGCGATGTCTGTGAACCCA	0.483																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(586-588)gtC>gtT		chemokine (C-C motif) receptor 6							120	107	111					6																	167550306		2203	4300	6503	SO:0001819	synonymous_variant	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550306C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.588C>T	6.37:g.167550306C>T						CCR6_ENST00000400926.2_Silent_p.V196V|CCR6_ENST00000349984.4_Silent_p.V196V	p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1140	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	196					E1P5C6|P78553|Q92846	Silent	SNP	ENST00000341935.5	37	c.588C>T	CCDS5298.1																																																																																				0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			6	153	0	0	0	1	0	6	153					T	167550306	C	T	167550306	2	4	225	1	0	0	0	0	0	0	0	1	2945	900	32	2		2	CCR6	6	167550306	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	51006026	167550306	3564761	25	27740											
SLC18A1	6570	broad.mit.edu	37	chr8	20038418	20038418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccagcaccagctgccGggacgctctcccctccttca	7	21	2	0	rs201099277		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20038418G>A	ENST00000276373.5	-	2	324	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W|SLC18A1_ENST00000440926.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	20					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACCAGCTGCCGGGACGCTCTC	0.587																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(58-60)Cgg>Tgg		solute carrier family 18 (vesicular monoamine transporter), member 1							108	85	93					8																	20038418		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20038418G>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.58C>T	8.37:g.20038418G>A	ENSP00000276373:p.Arg20Trp					SLC18A1_ENST00000276373.5_Missense_Mutation_p.R20W|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W	p.R20W	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	3	528	-			20					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.58C>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462604	0.63513	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.71	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);	0.055622	0.64402	D	0.000001	D	0.91868	0.7426	M	0.90369	3.11	0.36058	D	0.84121	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.76071	0.987;0.887;0.924	D	0.94485	0.7696	10	0.87932	D	0	-4.3532	12.8384	0.57786	0.0:0.0:0.7039:0.2961	.	20;20;20	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	W	20	ENSP00000265808:R20W;ENSP00000276373:R20W;ENSP00000387549:R20W;ENSP00000413361:R20W;ENSP00000429664:R20W;ENSP00000371021:R20W;ENSP00000428999:R20W	ENSP00000265808:R20W	R	-	1	2	SLC18A1	20082698	0.989000	0.36119	0.911000	0.35937	0.622000	0.37654	2.328000	0.43867	0.695000	0.31675	0.655000	0.94253	CGG		0.587	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			20	21	0	0	0	1	0	20	21					A	20038418	G	A	20038418	3	1	225	1	0	0	0	0	1	0	0	0	14425	1115	39	1	1579	1	SLC18A1	8	20038418	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		20038418	126325604	26	27741											
LZTS1	11178	broad.mit.edu	37	chr8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattttggagctggacttgCcgtgaccggagtcctgggag	15	10	0	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|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)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(157-159)gGc>gAc		leucine zipper, putative tumor suppressor 1							94	88	90					8																	20112535		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20112535C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.158G>A	8.37:g.20112535C>T	ENSP00000370981:p.Gly53Asp					LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D|LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D	p.G53D			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	515	-			53					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.158G>A	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830957|2.830957	0.50845|0.50845	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000334294|ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.|T;T;T	.|0.24151	.|2.2;2.2;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.457888	.|0.25601	.|N	.|0.029548	.|T	.|0.17577	.|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.42195|0.42195	D|D	0.991743|0.991743	.|P;P	.|0.41366	.|0.589;0.747	.|B;B	.|0.39258	.|0.295;0.255	.|T	.|0.02844	.|-1.1103	.|10	.|0.62326	.|D	.|0.03	.|-41.4352	13.5254|13.5254	0.61593|0.61593	0.0:0.8439:0.1561:0.0|0.0:0.8439:0.1561:0.0	.|.	.|53;53	.|Q9Y250-4;Q9Y250	.|.;LZTS1_HUMAN	.|D	-1|53	.|ENSP00000370981:G53D;ENSP00000265801:G53D;ENSP00000429263:G53D	.|ENSP00000265801:G53D	.|G	-|-	.|2	.|0	LZTS1|LZTS1	20156815|20156815	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	2.376000|2.376000	0.44292|0.44292	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	.|GGC		0.577	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	167	0	0	0	1	0	4	167					T	20112535	C	T	20112535	3	4	225	1	0	0	0	0	1	0	0	0	9138	739	26	2	1644	2	LZTS1	8	20112535	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	74117	20112535	126251487	27	27742											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732635	37732635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggggatggggaggaggaCgggctgctatccttgatctc	18	7	1	1	rs142192886	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:37732635C>T	ENST00000330843.4	-	3	1032	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	340					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)			GGGAGGAGGACGGGCTGCTAT	0.532																																						ENST00000330843.4																			0				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						c.(1018-1020)ccG>ccA		RAB11 family interacting protein 1 (class I)		C	,	3,4403	6.2+/-15.9	0,3,2200	258	260	260		1020,1020	-10.2	0	8	dbSNP_134	260	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RAB11FIP1	NM_001002814.2,NM_025151.4	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	340/1284,340/650	37732635	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732635C>T	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.1020G>A	8.37:g.37732635C>T						RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1032	-		Lung NSC(58;0.118)|all_lung(54;0.195)	340					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1020G>A	CCDS34882.1																																																																																				0.532	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		5	577	0	0	0	1	0	5	577					T	37732635	C	T	37732635	2	4	225	1	0	0	0	0	0	0	0	1	12893	523	19	1		1	RAB11FIP1	8	37732635	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	17620100	37732635	108631387	28	27743											
RP1	6101	broad.mit.edu	37	chr8	55537675	55537675	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggagataaacattcaAatgacagatcaagtggctga	11	6	2	5			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:55537675A>G	ENST00000220676.1	+	4	1381	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	411					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)			TAAACATTCAAATGACAGATC	0.453																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				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						c.(1231-1233)caA>caG		retinitis pigmentosa 1 (autosomal dominant)							97	97	97					8																	55537675		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537675A>G	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.1233A>G	8.37:g.55537675A>G							p.Q411Q	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1381	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	411						Silent	SNP	ENST00000220676.1	37	c.1233A>G	CCDS6160.1																																																																																				0.453	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	111	0	0	0	1	0	4	111					G	55537675	A	G	55537675	2	3	225	1	0	0	0	0	0	0	0	1	13532	11	1	3		3	RP1	8	55537675	Silent	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	17805040	55537675	90826347	29	27744											
COL14A1	7373	broad.mit.edu	37	chr8	121354641	121354641	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgcagtctcaagccaTggtgagatcagtggcgcgtc	13	11	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:121354641T>A	ENST00000297848.3	+	44	5114	c.4844T>A	c.(4843-4845)aTg>aAg	p.M1615K	COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K|COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K	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)			TCTCAAGCCATGGTGAGATCA	0.488																																						ENST00000297848.3																			0				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						c.(4843-4845)aTg>aAg		collagen, type XIV, alpha 1							208	172	184					8																	121354641		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121354641T>A		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.4844T>A	8.37:g.121354641T>A	ENSP00000297848:p.Met1615Lys					COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K|COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K	p.M1615K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		44	5114	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1615						Missense_Mutation	SNP	ENST00000297848.3	37	c.4844T>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404792	0.62288	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.87029	-2.1;-2.14;-2.2	5.31	5.31	0.75309	.	0.267486	0.45361	D	0.000376	D	0.83101	0.5181	L	0.50333	1.59	0.80722	D	1	P	0.34826	0.471	B	0.37346	0.247	T	0.79242	-0.1884	10	0.10636	T	0.68	.	13.5538	0.61747	0.0:0.0:0.0:1.0	.	1615	Q05707	COEA1_HUMAN	K	1615;1615;1520	ENSP00000311809:M1615K;ENSP00000297848:M1615K;ENSP00000247781:M1520K	ENSP00000247781:M1520K	M	+	2	0	COL14A1	121423822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.877000	0.48506	2.017000	0.59298	0.454000	0.30748	ATG		0.488	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		43	80	0	0	0	1	0	43	80					A	121354641	T	A	121354641	3	1	225	1	0	0	0	0	1	0	0	0	3671	1464	51	5	5014	5	COL14A1	8	121354641	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	65816966	121354641	25009381	30	27745											
INSL4	3641	broad.mit.edu	37	chr9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggatggccagcctgttcCggtcctatctgccagcaatc	10	15	1	0	rs142741438	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													T|||	9	0.00179712	0.0	0.0014	5008	,	,		20513	0.0		0.001	False		,,,				2504	0.0072					ENST00000239316.4																			0				endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6						c.(16-18)Cgg>Tgg		insulin-like 4 (placenta)		T	TRP/ARG	0,4406		0,0,2203	73	67	69		16	2.4	0	9	dbSNP_134	69	13,8587	818.3+/-406.9	0,13,4287	yes	missense	INSL4	NM_002195.1	101	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	benign	6/140	5231539	13,12993	2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231539C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.16C>T	9.37:g.5231539C>T	ENSP00000239316:p.Arg6Trp						p.R6W	NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	121	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	6					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.16C>T	CCDS6459.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	4.418	0.077335	0.08485	0.0	0.001512	ENSG00000120211	ENST00000239316	T	0.17370	2.28	2.41	2.41	0.29592	.	0.719769	0.10310	N	0.690041	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.44086	T	0.13	.	4.3908	0.11339	0.0:0.1689:0.0:0.8311	.	6	Q14641	INSL4_HUMAN	W	6	ENSP00000239316:R6W	ENSP00000239316:R6W	R	+	1	2	INSL4	5221539	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	1.105000	0.31086	0.351000	0.24027	-1.140000	0.01884	CGG		0.542	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		14	19	0	0	0	1	0	14	19					T	5231539	C	T	5231539	3	4	225	1	0	0	0	0	1	0	0	0	7768	643	23	1	18	1	INSL4	9	5231539	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		5231539	135981892	31	27746											
C9orf47	286223	broad.mit.edu	37	chr9	91606803	91606803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaggccttttccaccGcacccggagcgtttacaacg	13	13	0	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:91606803G>A	ENST00000334490.5	+	3	577	c.509G>A	c.(508-510)cGc>cAc	p.R170H	C9orf47_ENST00000375851.2_Missense_Mutation_p.R151H|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H|S1PR3_ENST00000358157.2_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	170						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CTTTTCCACCGCACCCGGAGC	0.617																																						ENST00000375851.2																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(451-453)cGc>cAc		chromosome 9 open reading frame 47							66	63	64					9																	91606803		2203	4300	6503	SO:0001583	missense	286223					extracellular region		g.chr9:91606803G>A	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 108"	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.509G>A	9.37:g.91606803G>A	ENSP00000335616:p.Arg170His					S1PR3_ENST00000358157.2_Intron|C9orf47_ENST00000334490.5_Missense_Mutation_p.R170H|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H	p.R151H	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN			3	585	+			170					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.452G>A	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860905	0.32884	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.63	-2.72	0.05968	.	.	.	.	.	T	0.16385	0.0394	N	0.08118	0	0.09310	N	0.99999	B;B	0.26400	0.148;0.148	B;B	0.11329	0.006;0.006	T	0.16335	-1.0406	8	0.87932	D	0	.	7.8615	0.29511	0.4064:0.0:0.5936:0.0	.	170;151	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	H	151;203;170	.	ENSP00000335616:R170H	R	+	2	0	C9orf47	90796623	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.598000	0.05706	-0.665000	0.05317	-0.378000	0.06908	CGC		0.617	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		4	86	0	0	0	1	0	4	86					A	91606803	G	A	91606803	3	1	225	1	0	0	0	0	1	0	0	0	2485	1087	38	1	519	1	C9orf47	9	91606803	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	86375264	91606803	49606628	32	27747											
KIAA1529	100499483	broad.mit.edu	37	chr9	100077190	100077190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacttcctacctcatgCggcccgaagtgtacaggctg	10	12	1	1	rs200220636		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:100077190C>T	ENST00000357054.1	+	22	2241	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.R297W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R297W|CCDC180_ENST00000395220.1_Missense_Mutation_p.R436W|CCDC180_ENST00000411667.2_Missense_Mutation_p.R294W|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	436						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTACCTCATGCGGCCCGAAGT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19493	0.0		0.001	False		,,,				2504	0.0					ENST00000375202.2																			0											c.(889-891)Cgg>Tgg		coiled-coil domain containing 180		C	TRP/ARG	0,4406		0,0,2203	90	85	87		889	3.9	1	9		87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C9orf174	NM_020893.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	297/1702	100077190	1,13005	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100077190C>T	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.1306C>T	9.37:g.100077190C>T	ENSP00000349562:p.Arg436Trp					CCDC180_ENST00000411667.2_Missense_Mutation_p.R294W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R297W|CCDC180_ENST00000395220.1_Missense_Mutation_p.R436W|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.R436W	p.R297W							22	2241	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	C	12.92	2.082601	0.36758	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.85	3.93	0.45458	.	0.811347	0.11165	N	0.592605	T	0.30696	0.0773	N	0.22421	0.69	0.24609	N	0.99374	D;D;D;D	0.76494	0.999;0.997;0.997;0.997	P;P;P;P	0.59948	0.866;0.627;0.627;0.627	T	0.10428	-1.0630	10	0.72032	D	0.01	-14.6815	7.707	0.28657	0.1793:0.7346:0.0:0.0861	.	294;436;297;436	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	W	436;436;297;294;320;297	ENSP00000349562:R436W;ENSP00000378646:R436W;ENSP00000364348:R297W;ENSP00000414000:R294W;ENSP00000434727:R297W	ENSP00000349562:R436W	R	+	1	2	C9orf174	99117011	0.773000	0.28580	0.974000	0.42286	0.264000	0.26372	1.891000	0.39738	1.555000	0.49500	0.655000	0.94253	CGG		0.493	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	161	0	0	0	1	0	4	161					T	100077190	C	T	100077190	3	4	225	1	0	0	0	0	1	0	0	0	8240	759	27	1	1348	1	KIAA1529	9	100077190	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	8470387	100077190	41136241	33	27748											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaactgcttgccgttgtgCcatgtaaaggagtcacccgc	12	11	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1228-1230)tgG>tgA		angiopoietin-like 2							205	198	200					9																	129854001		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854001C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1230G>A	9.37:g.129854001C>T	ENSP00000362524:p.Trp410*					RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*	p.W410*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1847	-			410			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1230G>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	42	9.799516	0.99267	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	.	.	.	X	410;108	.	ENSP00000362516:W108X	W	-	3	0	ANGPTL2	128893822	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.855000	0.62925	2.574000	0.86865	0.655000	0.94253	TGG		0.532	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		6	508	0	0	0	1	0	6	508					T	129854001	C	T	129854001	4	4	225	1	0	0	0	0	0	1	0	0	614	740	26	2	259	2	ANGPTL2	9	129854001	Nonsense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	29776811	129854001	11359430	34	27749											
FAM129B	64855	broad.mit.edu	37	chr9	130270452	130270452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggaagaacctcttccGcacagagctgctgtcgtagt	10	14	1	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:130270452G>A	ENST00000373312.3	-	12	1675	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	488					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACCTCTTCCGCACAGAGCTG	0.627																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1462-1464)Cgg>Tgg		family with sequence similarity 129, member B							53	55	54					9																	130270452		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270452G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1462C>T	9.37:g.130270452G>A	ENSP00000362409:p.Arg488Trp					FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W	p.R488W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			12	1675	-			488					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1462C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154823	0.78114	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.34472	1.36;1.36	4.93	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.76170	2.325	0.48040	D	0.999577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.989;0.99;0.99	T	0.62067	-0.6932	10	0.87932	D	0	-23.9972	11.7007	0.51569	0.0:0.0:0.8222:0.1777	.	138;475;488	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	W	475;138;488	ENSP00000362411:R475W;ENSP00000362409:R488W	ENSP00000362409:R488W	R	-	1	2	FAM129B	129310273	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.517000	0.35867	2.266000	0.75297	0.561000	0.74099	CGG		0.627	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		12	110	0	0	0	1	0	12	110					A	130270452	G	A	130270452	3	1	225	1	0	0	0	0	1	0	0	0	5437	1086	38	1	790	1	FAM129B	9	130270452	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	416451	130270452	10942979	35	27750											
ITIH2	3698	broad.mit.edu	37	chr10	7774441	7774441	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaactgctagctgaacgGtaagaagagaagagtaccca	10	9	0	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:7774441G>A	ENST00000358415.4	+	14	1953		c.e14+1		ITIH2_ENST00000379587.4_Splice_Site	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGCTGAACGGTAAGAAGAGA	0.433																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.e14+1		inter-alpha-trypsin inhibitor heavy chain 2							81	75	77					10																	7774441		2203	4300	6503	SO:0001630	splice_region_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7774441G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1787+1G>A	10.37:g.7774441G>A						ITIH2_ENST00000379587.4_Splice_Site		NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			14	1953	+								Q14659|Q15484|Q5T986	Splice_Site	SNP	ENST00000358415.4	37		CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657536	0.67586	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0163	0.92896	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITIH2	7814447	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	8.517000	0.90555	2.498000	0.84270	0.643000	0.83706	.		0.433	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Intron	26	52	0	0	0	1	0	26	52					A	7774441	G	A	7774441	5	1	225	1	0	0	0	0	0	0	1	0	7904	1275	44	2	1842	2	ITIH2	10	7774441	Splice_Site	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		7774441	127760306	36	27751											
GRID1	2894	broad.mit.edu	37	chr10	87898634	87898634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatggcgcggcgaagcGtgtcccggtagcgattcagc	17	11	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:87898634G>A	ENST00000327946.7	-	4	753	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	223					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						GCGGCGAAGCGTGTCCCGGTA	0.587										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				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						c.(667-669)aCg>aTg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						183	156	165					10																	87898634		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87898634G>A	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.668C>T	10.37:g.87898634G>A	ENSP00000330148:p.Thr223Met	Multiple Myeloma(13;0.14)					p.T223M	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			4	753	-			223					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.668C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.244495	0.79912	.	.	ENSG00000182771	ENST00000327946	D	0.83914	-1.78	5.17	5.17	0.71159	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89238	0.6658	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90275	0.4310	10	0.72032	D	0.01	.	17.6915	0.88269	0.0:0.0:1.0:0.0	.	223	Q9ULK0	GRID1_HUMAN	M	223	ENSP00000330148:T223M	ENSP00000330148:T223M	T	-	2	0	GRID1	87888614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.753000	0.98904	2.413000	0.81919	0.550000	0.68814	ACG		0.587	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		97	189	0	0	0	1	0	97	189					A	87898634	G	A	87898634	3	1	225	1	0	0	0	0	1	0	0	0	6771	1145	40	1	2413	1	GRID1	10	87898634	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	80124193	87898634	47636113	37	27752											
ANO3	63982	broad.mit.edu	37	chr11	26463524	26463524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttaaaaccgtctcggagaTccctgccttgcctcgcccag	9	16	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:26463524T>C	ENST00000256737.3	+	2	958	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P|ANO3_ENST00000531646.1_Missense_Mutation_p.S36P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTCTCGGAGATCCCTGCCTTG	0.438																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(106-108)Tcc>Ccc		anoctamin 3							143	147	146					11																	26463524		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463524T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.106T>C	11.37:g.26463524T>C	ENSP00000256737:p.Ser36Pro					ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P|ANO3_ENST00000531646.1_Missense_Mutation_p.S36P	p.S36P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			2	958	+			36					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.106T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146729	0.77888	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.24	5.24	0.73138	.	0.141593	0.49916	D	0.000123	T	0.66247	0.2770	N	0.24115	0.695	0.47407	D	0.999418	D	0.71674	0.998	D	0.75484	0.986	T	0.69712	-0.5071	10	0.66056	D	0.02	.	12.0981	0.53767	0.0:0.0:0.0:1.0	.	36	Q9BYT9	ANO3_HUMAN	P	20;20;36;36	ENSP00000440737:S20P;ENSP00000432576:S20P;ENSP00000256737:S36P;ENSP00000435275:S36P	ENSP00000256737:S36P	S	+	1	0	ANO3	26420100	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.281000	0.58965	2.284000	0.76573	0.528000	0.53228	TCC		0.438	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		117	153	0	0	0	1	0	117	153					C	26463524	T	C	26463524	3	2	225	1	0	0	0	0	1	0	0	0	698	1435	50	3	112	3	ANO3	11	26463524	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		26463524	108542992	38	27753											
OR5B12	390191	broad.mit.edu	37	chr11	58207289	58207289	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcataggccattgatgccagGaggaaactttctgcagtgat	11	8	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:58207289G>C	ENST00000302572.2	-	1	357	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGATGCCAGGAGGAAACTTT	0.443																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(334-336)ctC>ctG		olfactory receptor, family 5, subfamily B, member 12							108	102	104					11																	58207289		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207289G>C	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.336C>G	11.37:g.58207289G>C							p.L112L	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	357	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	112					B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.336C>G	CCDS31551.1																																																																																				0.443	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		5	177	0	0	0	1	0	5	177					C	58207289	G	C	58207289	2	2	225	1	0	0	0	0	0	0	0	1	11148	1161	41	4		4	OR5B12	11	58207289	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	31743765	58207289	76799227	39	27754											
AHNAK	79026	broad.mit.edu	37	chr11	62289340	62289340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcatttttaagtgccaGtctgggccttgaacgtccac	11	10	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:62289340G>A	ENST00000378024.4	-	5	12823	c.12549C>T	c.(12547-12549)gaC>gaT	p.D4183D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4183					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)				TTAAGTGCCAGTCTGGGCCTT	0.542																																						ENST00000378024.4																			0				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						c.(12547-12549)gaC>gaT		AHNAK nucleoprotein							185	190	188					11																	62289340		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62289340G>A	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.12549C>T	11.37:g.62289340G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D4183D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12823	-		Melanoma(852;0.155)	4183					A1A586	Silent	SNP	ENST00000378024.4	37	c.12549C>T	CCDS31584.1																																																																																				0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		217	424	0	0	0	1	0	217	424					A	62289340	G	A	62289340	2	1	225	1	0	0	0	0	0	0	0	1	414	1020	36	2		2	AHNAK	11	62289340	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	4082051	62289340	72717176	40	27755											
NUMA1	4926	broad.mit.edu	37	chr11	71724905	71724905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagcctcttgccggcccCgggccacctgggccttccac	10	20	2	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:71724905C>T	ENST00000393695.3	-	15	3975	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	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						TTGCCGGCCCCGGGCCACCTG	0.612			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				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						c.(3643-3645)cGg>cAg		nuclear mitotic apparatus protein 1							73	74	74					11																	71724905		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724905C>T	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.3644G>A	11.37:g.71724905C>T	ENSP00000377298:p.Arg1215Gln					NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron	p.R1215Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3975	-			1215						Missense_Mutation	SNP	ENST00000393695.3	37	c.3644G>A	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.817|9.817	1.184834|1.184834	0.21870|0.21870	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T	.|0.11930	.|2.73;2.73	4.81|4.81	2.91|2.91	0.33838|0.33838	.|.	.|0.166220	.|0.29466	.|N	.|0.012067	T|T	0.07234|0.07234	0.0183|0.0183	L|L	0.28274|0.28274	0.84|0.84	0.26791|0.26791	N|N	0.969399|0.969399	.|P;B;B;P	.|0.34615	.|0.459;0.012;0.012;0.459	.|B;B;B;B	.|0.25291	.|0.059;0.005;0.005;0.059	T|T	0.29610|0.29610	-1.0006|-1.0006	5|10	.|0.22706	.|T	.|0.39	.|.	8.1831|8.1831	0.31322|0.31322	0.0:0.6881:0.0:0.3119|0.0:0.6881:0.0:0.3119	.|.	.|1221;699;1215;1215	.|Q4LE64;Q59HB8;Q14980-2;Q14980	.|.;.;.;NUMA1_HUMAN	R|Q	60|1215;1215;778;184	.|ENSP00000351851:R1215Q;ENSP00000377298:R1215Q	.|ENSP00000351851:R1215Q	G|R	-|-	1|2	0|0	NUMA1|NUMA1	71402553|71402553	0.409000|0.409000	0.25368|0.25368	0.996000|0.996000	0.52242|0.52242	0.884000|0.884000	0.51177|0.51177	1.177000|1.177000	0.31969|0.31969	1.251000|1.251000	0.43983|0.43983	-0.140000|-0.140000	0.14226|0.14226	GGG|CGG		0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			5	179	0	0	0	1	0	5	179					T	71724905	C	T	71724905	3	4	225	1	0	0	0	0	1	0	0	0	10750	652	23	1	2755	1	NUMA1	11	71724905	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	9435565	71724905	63281611	41	27756											
MAP6	4135	broad.mit.edu	37	chr11	75298555	75298555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttacaggctcagagaccAtggaaccttgattctttatg	8	9	3	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:75298555A>G	ENST00000304771.3	-	4	2741	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.M335T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTCAGAGACCATGGAACCTTG	0.488																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1990-1992)aTg>aCg		microtubule-associated protein 6							169	154	159					11																	75298555		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298555A>G	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1991T>C	11.37:g.75298555A>G	ENSP00000307093:p.Met664Thr					MAP6_ENST00000526740.1_Missense_Mutation_p.M335T|CTD-2530H12.4_ENST00000527803.1_RNA	p.M664T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2741	-	Ovarian(111;0.11)		664			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1991T>C	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	A	6.614	0.481723	0.12581	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.41400	1.0	5.01	-0.594	0.11664	.	1.798120	0.02690	N	0.110485	T	0.27278	0.0669	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04870	-1.0921	10	0.10636	T	0.68	0.1771	0.9609	0.01395	0.3566:0.3148:0.1763:0.1523	.	664	Q96JE9	MAP6_HUMAN	T	664;335;335	ENSP00000307093:M664T	ENSP00000307093:M664T	M	-	2	0	MAP6	74976203	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.019000	0.12546	0.077000	0.16863	0.533000	0.62120	ATG		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		7	229	0	0	0	1	0	7	229					G	75298555	A	G	75298555	3	3	225	1	0	0	0	0	1	0	0	0	9264	217	8	3	454	3	MAP6	11	75298555	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	3573650	75298555	59707961	42	27757											
CAPRIN2	65981	broad.mit.edu	37	chr12	30906347	30906347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaatataggtctcataCgcttgggaaggagatgcagc	11	7	2	1	rs151080170	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr12:30906347C>T	ENST00000395805.2	-	1	898	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000251071.5_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A	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)					AGGTCTCATACGCTTGGGAAG	0.468											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251071.5																			0				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						c.(349-351)gcG>gcA		caprin family member 2		C	,,,	7,4399	12.9+/-30.5	0,7,2196	100	103	102		351,351,351,351	-10.7	0.9	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CAPRIN2	NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3	,,,	0,8,6495	TT,TC,CC		0.0116,0.1589,0.0615	,,,	117/1128,117/906,117/1078,117/961	30906347	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30906347C>T	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.351G>A	12.37:g.30906347C>T			OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Silent_p.A117A	p.A117A	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			1	1101	-	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)		117						Silent	SNP	ENST00000395805.2	37	c.351G>A	CCDS55816.1																																																																																				0.468	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		90	179	0	0	0	1	0	90	179					T	30906347	C	T	30906347	2	4	225	1	0	0	0	0	0	0	0	1	2636	523	19	1		1	CAPRIN2	12	30906347	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		30906347	102945548	43	27758											
SOHLH2	54937	broad.mit.edu	37	chr13	36743177	36743177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacatgtgcttttaataCgcccaaaactgttgctgcaa	6	10	1	0	rs148509448		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:36743177C>T	ENST00000379881.3	-	11	1360	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	SOHLH2_ENST00000554962.1_Silent_p.A501A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	424					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTTTTAATACGCCCAAAACT	0.383																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1270-1272)gcG>gcA		spermatogenesis and oogenesis specific basic helix-loop-helix 2		T	,	1,4405	826.1+/-416.6	0,1,2202	142	139	140		1503,1272	2.1	1	13	dbSNP_134	140	1,8599	819.2+/-406.8	0,1,4299	yes	coding-synonymous,coding-synonymous	SOHLH2,CCDC169-SOHLH2	NM_001198910.1,NM_017826.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	501/503,424/426	36743177	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54937							g.chr13:36743177C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1272G>A	13.37:g.36743177C>T						CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A|SOHLH2_ENST00000554962.1_Silent_p.A501A	p.A424A	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	11	1360	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.1272G>A	CCDS9355.1																																																																																				0.383	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		4	260	0	0	0	1	0	4	260					T	36743177	C	T	36743177	2	4	225	1	0	0	0	0	0	0	0	1	14924	523	19	1		1	SOHLH2	13	36743177	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		36743177	78426701	44	27759											
TBC1D4	9882	broad.mit.edu	37	chr13	75861079	75861079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcttgttccagggtcCggattaaagacttcattttg	8	7	2	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:75861079C>T	ENST00000377636.3	-	21	4092	c.3746G>A	c.(3745-3747)cGg>cAg	p.R1249Q	TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q|TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1249					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCCAGGGTCCGGATTAAAGA	0.458																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3745-3747)cGg>cAg		TBC1 domain family, member 4							129	124	125					13																	75861079		1834	4086	5920	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75861079C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3746G>A	13.37:g.75861079C>T	ENSP00000366863:p.Arg1249Gln					TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q	p.R1249Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	21	4092	-		Prostate(6;0.014)|Breast(118;0.0982)	1249					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3746G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361338	0.41801	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.79554	4.03;4.02;4.05;-1.28	5.63	5.63	0.86233	.	0.109676	0.41294	D	0.000918	T	0.62122	0.2402	L	0.27053	0.805	0.51767	D	0.999935	B;B;B;B	0.30511	0.038;0.147;0.147;0.282	B;B;B;B	0.20384	0.006;0.021;0.024;0.029	T	0.57894	-0.7732	10	0.13108	T	0.6	-27.6576	6.1928	0.20534	0.1826:0.7063:0.0:0.1111	.	413;1186;1241;1249	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	Q	1249;1241;1186;413	ENSP00000366863:R1249Q;ENSP00000395986:R1241Q;ENSP00000366852:R1186Q;ENSP00000390654:R413Q	ENSP00000366852:R1186Q	R	-	2	0	TBC1D4	74759080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.255000	0.58804	2.798000	0.96311	0.655000	0.94253	CGG		0.458	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	261	0	0	0	1	0	5	261					T	75861079	C	T	75861079	3	4	225	1	0	0	0	0	1	0	0	0	15619	652	23	1	154	1	TBC1D4	13	75861079	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	39117902	75861079	39308799	45	27760											
MTMR15	22909	broad.mit.edu	37	chr15	31221508	31221508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccccgaggagagcctgCgggcctgggtggcagccacg	17	14	0	1	rs145217832		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr15:31221508C>T	ENST00000362065.4	+	12	2986	c.2695C>T	c.(2695-2697)Cgg>Tgg	p.R899W	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	899	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGAGAGCCTGCGGGCCTGGGT	0.602								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(2695-2697)Cgg>Tgg	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1		C	TRP/ARG	0,4404		0,0,2202	123	122	122		2695	0.6	0.2	15	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAN1	NM_014967.4	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	899/1018	31221508	1,13003	2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31221508C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2695C>T	15.37:g.31221508C>T	ENSP00000354497:p.Arg899Trp					FAN1_ENST00000568145.1_3'UTR	p.R899W	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			12	2986	+			899			VRR-NUC.		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.2695C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231242	0.22626	0.0	1.16E-4	ENSG00000198690	ENST00000362065	D	0.86097	-2.07	5.39	0.643	0.17770	VRR-NUC (1);	1.057540	0.07316	N	0.876812	D	0.87943	0.6305	M	0.73372	2.23	0.44652	D	0.99763	D;P	0.89917	1.0;0.455	P;B	0.59703	0.862;0.12	T	0.81369	-0.0964	10	0.66056	D	0.02	-1.4087	1.8145	0.03097	0.1507:0.425:0.2104:0.2139	.	899;899	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	W	899	ENSP00000354497:R899W	ENSP00000354497:R899W	R	+	1	2	FAN1	29008800	0.002000	0.14202	0.238000	0.24106	0.165000	0.22458	-0.048000	0.11944	0.334000	0.23590	0.650000	0.86243	CGG		0.602	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	245	0	0	0	1	0	4	245					T	31221508	C	T	31221508	3	4	225	1	0	0	0	0	1	0	0	0	9943	759	27	1	2762	1	MTMR15	15	31221508	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		31221508	71309884	46	27761											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		8	699						8	699	---	---	---	---	-	68718504	A	-	68718504	7	5	225	1	0	1	0	1	0	0	0	0	3111	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-FG-A711-01A-21D-A33T-08		68718504	21636249	47	27762											
CYBA	1535	broad.mit.edu	37	chr16	88712527	88712527	+	Frame_Shift_Del	DEL	T	T	-													cagagggcgccactcaccagTaggtagatgccgctcgcaat							TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:88712527delT	ENST00000261623.3	-	5	504	c.366delA	c.(364-366)ctafs	p.L123fs	CYBA_ENST00000569359.1_Frame_Shift_Del_p.L123fs|CYBA_ENST00000561972.1_5'Flank|CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs	NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	123					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)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	CACTCACCAGTAGGTAGATGC	0.701																																						ENST00000569359.1																			0				endometrium(1)|liver(1)	2						c.(364-366)ctfs		cytochrome b-245, alpha polypeptide							16	17	17					16																	88712527		2127	4211	6338	SO:0001589	frameshift_variant	1535				cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding	g.chr16:88712527delT		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"Cytochrome b genes"	2577	protein-coding gene	gene with protein product	"flavocytochrome b-558 alpha polypeptide"	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.366delA	16.37:g.88712527delT	ENSP00000261623:p.Leu123fs					CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs|CYBA_ENST00000261623.3_Frame_Shift_Del_p.L123fs	p.L123fs			P13498	CY24A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	5	382	-			123					Q14090|Q9BR72	Frame_Shift_Del	DEL	ENST00000261623.3	37	c.366delA	CCDS32504.1																																																																																				0.701	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101		2	4						2	4	---	---	---	---	-	88712527	T	-	88712527	7	5	225	1	0	1	0	1	0	0	0	0	4131	1625	57	0	229	0	CYBA	16	88712527	Frame_Shift_Del	DEL	T	TCGA-FG-A711-01A-21D-A33T-08	19994023	88712527	1642226	48	27763											
TRPV1	7442	broad.mit.edu	37	chr17	3470222	3470222	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagcagactgcctatctcGagcacttgcctctcttaaaa	7	13	2	2	rs202102886		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:3470222G>A	ENST00000571088.1	-	16	2620	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000174621.6_Nonsense_Mutation_p.R801*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	803					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGCCTATCTCGAGCACTTGCC	0.507																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(2401-2403)Cga>Tga		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						41	43	42					17																	3470222		1948	4143	6091	SO:0001587	stop_gained	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3470222G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2407C>T	17.37:g.3470222G>A	ENSP00000461007:p.Arg803*					TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*	p.R801*			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	15	2690	-			803			Interaction with calmodulin (By similarity).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Nonsense_Mutation	SNP	ENST00000571088.1	37	c.2401C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200965	0.97371	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	5.07	4.09	0.47781	.	0.283622	0.25768	N	0.028430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3957	11.3076	0.49345	0.0:0.0:0.8051:0.1949	.	.	.	.	X	803;803;801;814;743	.	ENSP00000174621:R801X	R	-	1	2	TRPV1	3416972	1.000000	0.71417	0.897000	0.35233	0.083000	0.17756	2.507000	0.45442	1.407000	0.46875	0.655000	0.94253	CGA		0.507	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		8	68	0	0	0	1	0	8	68					A	3470222	G	A	3470222	4	1	225	1	0	0	0	0	0	1	0	0	16592	1066	37	1	116	1	TRPV1	17	3470222	Nonsense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		3470222	77724988	49	27764											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	11	0	0	0	1	0	41	11					A	7577121	G	A	7577121	3	1	225	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	4106899	7577121	73618089	50	27765											
DNAH2	146754	broad.mit.edu	37	chr17	7663221	7663221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacattctcaccaagcGcaagttacatcgtgaaccca	6	15	1	2	rs372631936		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7663221G>A	ENST00000572933.1	+	17	4210	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	917	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)				CTCACCAAGCGCAAGTTACAT	0.562																																						ENST00000572933.1																			0				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						c.(2749-2751)cGc>cAc		dynein, axonemal, heavy chain 2		G	HIS/ARG	0,4406		0,0,2203	296	272	280		2750	3.2	1	17		280	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	917/4428	7663221	1,13005	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663221G>A	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.2750G>A	17.37:g.7663221G>A	ENSP00000458355:p.Arg917His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H	p.R917H			Q9P225	DYH2_HUMAN			17	4210	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	917			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2750G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108362	0.20714	0.0	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23754	1.89	5.35	3.25	0.37280	.	0.207319	0.34853	N	0.003628	T	0.16685	0.0401	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06552	-1.0820	10	0.44086	T	0.13	.	5.712	0.17941	0.1642:0.0:0.6781:0.1576	.	917	Q9P225	DYH2_HUMAN	H	917	ENSP00000373825:R917H	ENSP00000353818:R917H	R	+	2	0	DNAH2	7603946	0.821000	0.29204	1.000000	0.80357	0.183000	0.23260	1.940000	0.40223	1.284000	0.44531	-0.320000	0.08662	CGC		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	501	0	0	0	1	0	5	501					A	7663221	G	A	7663221	3	1	225	1	0	0	0	0	1	0	0	0	4602	1087	38	1	2812	1	DNAH2	17	7663221	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	86100	7663221	73531989	51	27766											
FAM134C	162427	broad.mit.edu	37	chr17	40761319	40761319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccgggcctggggtcgtGggaaccccttcggcctcagc	16	14	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:40761319G>A	ENST00000309428.5	-	1	83	c.24C>T	c.(22-24)ccC>ccT	p.P8P	FAM134C_ENST00000585894.1_Intron|TUBG1_ENST00000251413.3_5'Flank|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	8						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGGGTCGTGGGAACCCCTT	0.687																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(22-24)ccC>ccT		family with sequence similarity 134, member C							17	23	21					17																	40761319		2120	4188	6308	SO:0001819	synonymous_variant	162427					integral to membrane		g.chr17:40761319G>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.24C>T	17.37:g.40761319G>A						FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	p.P8P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	1	83	-		Breast(137;0.00116)	8					B3KR75	Silent	SNP	ENST00000309428.5	37	c.24C>T	CCDS11432.1																																																																																				0.687	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		37	55	0	0	0	1	0	37	55					A	40761319	G	A	40761319	2	1	225	1	0	0	0	0	0	0	0	1	5447	1335	47	2		2	FAM134C	17	40761319	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	33098098	40761319	40433891	52	27767											
BCAM	4059	broad.mit.edu	37	chr19	45322335	45322335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccagagctaaagacagcGgaaatagagcccaaggcaga	12	10	0	4	rs79447398	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:45322335G>A	ENST00000270233.6	+	11	1381	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	BCAM_ENST00000589651.1_Silent_p.A453A	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	453	Ig-like C2-type 3.				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)	p.A453A(1)		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)				TAAAGACAGCGGAAATAGAGC	0.582													G|||	10	0.00199681	0.0	0.0	5008	,	,		15803	0.0099		0.0	False		,,,				2504	0.0					ENST00000391955.1																			1	Substitution - coding silent(1)	p.A453A(1)	central_nervous_system(1)	central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1357-1359)gcG>gcA		basal cell adhesion molecule (Lutheran blood group)		G	,	1,4405		0,1,2202	138	159	152		1359,1359	-4.3	0	19	dbSNP_131	152	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BCAM	NM_001013257.1,NM_005581.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	453/589,453/629	45322335	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322335G>A	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.1359G>A	19.37:g.45322335G>A						BCAM_ENST00000270233.6_Silent_p.A453A	p.A453A			P50895	BCAM_HUMAN			11	1403	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	453			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.1359G>A	CCDS12644.1																																																																																				0.582	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		4	192	0	0	0	1	0	4	192					A	45322335	G	A	45322335	2	1	225	1	0	0	0	0	0	0	0	1	1344	1103	39	1		1	BCAM	19	45322335	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		45322335	13806648	53	27768											
A1BG	1	broad.mit.edu	37	chr19	58864428	58864428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgagtcaaggtgcacaGgctcctgggccaccccattc	12	14	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:58864428G>A	ENST00000263100.3	-	3	267	c.206C>T	c.(205-207)cCt>cTt	p.P69L	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	69	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGGTGCACAGGCTCCTGGGC	0.617																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(205-207)cCt>cTt		alpha-1-B glycoprotein							78	76	77					19																	58864428		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58864428G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.206C>T	19.37:g.58864428G>A	ENSP00000263100:p.Pro69Leu					A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	p.P69L	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	267	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	69			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.206C>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	5.059	0.196611	0.09599	.	.	ENSG00000121410	ENST00000263100	T	0.00678	5.87	3.52	-7.04	0.01578	Immunoglobulin-like fold (1);	1.143580	0.06718	N	0.774420	T	0.00468	0.0015	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.20384	0.029	T	0.48317	-0.9046	10	0.08837	T	0.75	.	1.0784	0.01638	0.3992:0.2506:0.2059:0.1443	.	69	P04217	A1BG_HUMAN	L	69	ENSP00000263100:P69L	ENSP00000263100:P69L	P	-	2	0	A1BG	63556240	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.271000	0.02828	-1.526000	0.01760	-1.092000	0.02172	CCT		0.617	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		47	76	0	0	0	1	0	47	76					A	58864428	G	A	58864428	3	1	225	1	0	0	0	0	1	0	0	0	1	1000	35	2	1305	2	A1BG	19	58864428	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	13542093	58864428	264555	54	27769											
PCSK2	5126	broad.mit.edu	37	chr20	17437095	17437095	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cactggctctggaggctaagTatgttcatagctctgggtcc	12	10	3	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:17437095T>A	ENST00000262545.2	+	10	1517		c.e10+2		PCSK2_ENST00000377899.1_Splice_Site|PCSK2_ENST00000536609.1_Splice_Site	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGAGGCTAAGTATGTTCATAG	0.557																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e10+2		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						99	98	98					20																	17437095		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17437095T>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1202+2T>A	20.37:g.17437095T>A						PCSK2_ENST00000536609.1_Splice_Site|PCSK2_ENST00000377899.1_Splice_Site		NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			10	1517	+								B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37		CCDS13125.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009055	0.93346	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1976	0.73104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCSK2	17385095	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.964000	0.87933	2.273000	0.75805	0.482000	0.46254	.		0.557	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Intron	15	191	0	0	0	1	0	15	191					A	17437095	T	A	17437095	5	1	225	1	0	0	0	0	0	0	1	0	11601	1652	57	5	1242	5	PCSK2	20	17437095	Splice_Site	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		17437095	45588425	55	27770											
CEP250	11190	broad.mit.edu	37	chr20	34084410	34084410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccctctctttttagcctgActctgtcactgatggaaaag	7	12	3	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:34084410A>G	ENST00000397527.1	+	25	3892	c.3172A>G	c.(3172-3174)Act>Gct	p.T1058A	CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1058	Gln/Glu-rich.				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)			TTTTAGCCTGACTCTGTCACT	0.433																																						ENST00000397527.1																			0				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						c.(3172-3174)Act>Gct		centrosomal protein 250kDa							70	66	67					20																	34084410		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34084410A>G	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.3172A>G	20.37:g.34084410A>G	ENSP00000380661:p.Thr1058Ala					CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	p.T1058A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		25	3892	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1058			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3172A>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460522	0.26248	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.09817	2.96;2.94	4.82	2.41	0.29592	.	0.825311	0.10912	N	0.620513	T	0.05823	0.0152	L	0.27053	0.805	0.19775	N	0.999956	B	0.06786	0.001	B	0.06405	0.002	T	0.45160	-0.9280	10	0.08599	T	0.76	.	2.8052	0.05425	0.5974:0.0:0.2147:0.1879	.	1058	Q9BV73	CP250_HUMAN	A	1058;1002	ENSP00000380661:T1058A;ENSP00000341541:T1002A	ENSP00000341541:T1002A	T	+	1	0	CEP250	33547824	0.977000	0.34250	1.000000	0.80357	0.923000	0.55619	0.822000	0.27352	0.822000	0.34565	0.528000	0.53228	ACT		0.433	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		64	91	0	0	0	1	0	64	91					G	34084410	A	G	34084410	3	3	225	1	0	0	0	0	1	0	0	0	3252	275	10	3	3258	3	CEP250	20	34084410	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	16647315	34084410	28941110	56	27771											
CASS4	57091	broad.mit.edu	37	chr20	55027795	55027795	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaattcgggaccagatgcaGaccatctccaactcctaccg	8	14	1	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:55027795G>T	ENST00000360314.3	+	6	1788	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	CASS4_ENST00000371336.3_Missense_Mutation_p.Q521H|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	521					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCAGATGCAGACCATCTCCA	0.473																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1561-1563)caG>caT		Cas scaffolding protein family member 4							79	76	77					20																	55027795		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027795G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1563G>T	20.37:g.55027795G>T	ENSP00000353462:p.Gln521His					CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.Q521H	p.Q521H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1764	+			521					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1563G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107629	0.56291	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.26518	1.73;1.73	5.78	3.75	0.43078	Serine rich protein interaction (1);	0.311519	0.35970	N	0.002874	T	0.47432	0.1445	M	0.84326	2.69	0.35348	D	0.787128	D;B;B	0.69078	0.997;0.063;0.028	D;B;B	0.66196	0.942;0.04;0.026	T	0.60120	-0.7325	10	0.72032	D	0.01	-10.4188	7.1054	0.25360	0.0649:0.2318:0.5837:0.1197	.	467;521;521	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	H	521	ENSP00000353462:Q521H;ENSP00000360387:Q521H	ENSP00000353462:Q521H	Q	+	3	2	CASS4	54461202	0.993000	0.37304	0.984000	0.44739	0.710000	0.40934	0.708000	0.25719	0.841000	0.35020	0.591000	0.81541	CAG		0.473	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		9	127	1	0	1.12685e-05	1	1.154e-05	9	127					T	55027795	G	T	55027795	3	4	225	1	0	0	0	0	1	0	0	0	2683	933	33	4	1581	4	CASS4	20	55027795	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	20943385	55027795	7997725	57	27772											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119422	32119422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatatctacagccagagccGtatccacagccatagccaca	6	16	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr21:32119422G>A	ENST00000333892.2	-	1	129	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agccagagccgtatccacagc	0.537																																						ENST00000333892.2																			0				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(97-99)taC>taT		keratin associated protein 21-2							158	131	140					21																	32119422		2203	4300	6503	SO:0001819	synonymous_variant	337978					intermediate filament		g.chr21:32119422G>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"Keratin associated proteins"	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.99C>T	21.37:g.32119422G>A							p.Y33Y	NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN			1	129	-			33						Silent	SNP	ENST00000333892.2	37	c.99C>T	CCDS13605.1																																																																																				0.537	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			76	22	0	0	0	1	0	76	22					A	32119422	G	A	32119422	2	1	225	1	0	0	0	0	0	0	0	1	8539	1140	40	1		1	KRTAP21-2	21	32119422	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		32119422	16010473	58	27773											
ZC3H7B	23264	broad.mit.edu	37	chr22	41723244	41723244	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctggaggacagcgagaAggcgctgggcctggacagtg	20	9	0	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:41723244A>T	ENST00000352645.4	+	5	577	c.320A>T	c.(319-321)aAg>aTg	p.K107M	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	107					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GACAGCGAGAAGGCGCTGGGC	0.632																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(319-321)aAg>aTg		zinc finger CCCH-type containing 7B							120	94	103					22																	41723244		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41723244A>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.320A>T	22.37:g.41723244A>T	ENSP00000345793:p.Lys107Met					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			5	577	+			107					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.320A>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.371703	0.61624	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.63417	-0.04;-0.04	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096995	0.64402	D	0.000001	T	0.74989	0.3789	M	0.69523	2.12	0.46131	D	0.998885	P;D	0.89917	0.917;1.0	P;D	0.74348	0.693;0.983	T	0.76462	-0.2950	10	0.52906	T	0.07	-26.3846	9.6868	0.40103	0.9222:0.0:0.0778:0.0	.	107;107	Q9UGR2-2;Q9UGR2	.;Z3H7B_HUMAN	M	107	ENSP00000345793:K107M;ENSP00000263243:K107M	ENSP00000263243:K107M	K	+	2	0	ZC3H7B	40053190	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.624000	0.46444	1.989000	0.58080	0.402000	0.26972	AAG		0.632	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		49	106	0	0	0	1	0	49	106					T	41723244	A	T	41723244	3	4	225	1	0	0	0	0	1	0	0	0	17570	72	3	5	334	5	ZC3H7B	22	41723244	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		41723244	9581322	59	27774											
ARSE	415	broad.mit.edu	37	chrX	2854890	2854890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaagggcagaaggtctTggccgtcaatcactctgcag	14	10	4	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:2854890T>C	ENST00000381134.3	-	10	1370	c.1304A>G	c.(1303-1305)cAa>cGa	p.Q435R	ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000545496.1_Missense_Mutation_p.Q460R	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	435					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				CAGAAGGTCTTGGCCGTCAAT	0.567																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1378-1380)cAa>cGa		arylsulfatase E (chondrodysplasia punctata 1)							128	77	94					X																	2854890		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2854890T>C	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"Arylsulfatase family"	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1304A>G	X.37:g.2854890T>C	ENSP00000370526:p.Gln435Arg					ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000381134.3_Missense_Mutation_p.Q435R	p.Q460R			P51690	ARSE_HUMAN			11	1670	-		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)	435					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1379A>G	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.842013	0.00068	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.92699	-3.09;-3.09;-3.09	3.77	-1.88	0.07713	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.804977	0.11593	N	0.548478	T	0.71022	0.3291	N	0.00894	-1.105	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.64032	-0.6502	10	0.02654	T	1	.	9.9792	0.41802	0.0:0.4775:0.0:0.5225	.	390;460;435	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	R	390;460;435	ENSP00000438198:Q390R;ENSP00000441417:Q460R;ENSP00000370526:Q435R	ENSP00000370526:Q435R	Q	-	2	0	ARSE	2864890	0.085000	0.21516	0.017000	0.16124	0.388000	0.30384	-0.162000	0.10012	-0.259000	0.09432	-0.657000	0.03884	CAA		0.567	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		27	54	0	0	0	1	0	27	54					C	2854890	T	C	2854890	3	2	225	1	0	0	0	0	1	0	0	0	990	1812	63	3	473	3	ARSE	23	2854890	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		2854890	152415670	60	27775											
RRAGB	10325	broad.mit.edu	37	chrX	55782315	55782315	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcagcgtgatgcccaTagatttgagaaaataagcaa	10	6	0	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:55782315T>C	ENST00000262850.7	+	9	1304	c.861T>C	c.(859-861)caT>caC	p.H287H	RRAGB_ENST00000374941.4_Silent_p.H259H	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GTGATGCCCATAGATTTGAGA	0.343																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(775-777)caT>caC		Ras-related GTP binding B							104	93	97					X																	55782315		2203	4300	6503	SO:0001819	synonymous_variant	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55782315T>C	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.861T>C	X.37:g.55782315T>C						RRAGB_ENST00000262850.7_Silent_p.H287H	p.H259H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			8	1366	+			287						Silent	SNP	ENST00000262850.7	37	c.777T>C	CCDS14372.1																																																																																				0.343	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		46	64	0	0	0	1	0	46	64					C	55782315	T	C	55782315	2	2	225	1	0	0	0	0	0	0	0	1	13673	1403	49	3		3	RRAGB	23	55782315	Silent	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	52927425	55782315	99488245	61	27776											
ATRX	546	broad.mit.edu	37	chrX	76937737	76937740	+	Frame_Shift_Del	DEL	TTAA	TTAA	-													attcatactgttgttccattTtaattacttttttcttaaag							TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:76937737_76937740delTTAA	ENST00000373344.5	-	9	3222_3225	c.3008_3011delTTAA	c.(3007-3012)attaaafs	p.IK1003fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1003					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						TTGTTCCATTTTAATTACTTTTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3007-3012)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937737_76937740delTTAA	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.3008_3011delTTAA	X.37:g.76937737_76937740delTTAA	ENSP00000362441:p.Ile1003fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	p.IK1003fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3222_3225	-			1003					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3008_3011delTTAA	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		179	298						179	298	---	---	---	---	-	76937740	TTAA	-	76937737	7	5	225	1	0	1	0	1	0	0	0	0	1208	1841	64	0	4575	0	ATRX	23	76937737	Frame_Shift_Del	DEL	TTAA	TCGA-FG-A711-01A-21D-A33T-08	21155422	76937737	78332823	62	27777											
SLC25A5	292	broad.mit.edu	37	chrX	118602491	118602491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaacatgacagatgccGctgtgtccttcgccaaggac	9	13	1	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118602491G>A	ENST00000317881.8	+	1	129	c.13G>A	c.(13-15)Gct>Act	p.A5T	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	5					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)	GACAGATGCCGCTGTGTCCTT	0.647																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(13-15)Gct>Act		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						23	21	22					X																	118602491		2201	4300	6501	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118602491G>A	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.13G>A	X.37:g.118602491G>A	ENSP00000360671:p.Ala5Thr					SLC25A5-AS1_ENST00000395539.2_RNA	p.A5T	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			1	129	+			5					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.13G>A	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608118	0.46527	.	.	ENSG00000005022	ENST00000317881	T	0.78364	-1.17	3.15	2.29	0.28610	Mitochondrial carrier domain (1);	0.121726	0.53938	N	0.000042	T	0.65575	0.2704	L	0.37697	1.125	0.58432	D	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.59595	-0.7425	10	0.41790	T	0.15	.	9.3982	0.38415	0.1139:0.0:0.8861:0.0	.	5	P05141	ADT2_HUMAN	T	5	ENSP00000360671:A5T	ENSP00000360671:A5T	A	+	1	0	SLC25A5	118486519	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	3.707000	0.54838	0.725000	0.32318	0.538000	0.68166	GCT		0.647	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		10	23	0	0	0	1	0	10	23					A	118602491	G	A	118602491	3	1	225	1	0	0	0	0	1	0	0	0	14512	1087	38	1	15	1	SLC25A5	23	118602491	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	41664754	118602491	36668069	63	27778											
NKRF	55922	broad.mit.edu	37	chrX	118725078	118725078	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttgtatactgaaagAgtcttgagtataatcttggt	8	7	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118725078A>T	ENST00000371527.1	-	2	962	c.310T>A	c.(310-312)Tct>Act	p.S104T	NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	104	Active repression domain.				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						ATACTGAAAGAGTCTTGAGTA	0.393																																						ENST00000371527.1																			0				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						c.(310-312)Tct>Act		NFKB repressing factor							132	113	120					X																	118725078		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118725078A>T	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.310T>A	X.37:g.118725078A>T	ENSP00000360582:p.Ser104Thr					NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	p.S104T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	962	-			104			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.310T>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	A	0.751	-0.772719	0.02951	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.44881	0.92;0.92;0.91	4.54	3.26	0.37387	.	0.626320	0.16137	N	0.227904	T	0.21718	0.0523	N	0.08118	0	0.37389	D	0.912359	B	0.20261	0.043	B	0.17098	0.017	T	0.11891	-1.0569	10	0.33141	T	0.24	-14.0421	8.9395	0.35720	0.8317:0.0:0.0:0.1683	.	104	O15226	NKRF_HUMAN	T	104;104;119	ENSP00000360582:S104T;ENSP00000304803:S104T;ENSP00000442308:S119T	ENSP00000304803:S104T	S	-	1	0	NKRF	118609106	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.070000	0.50033	1.746000	0.51805	0.412000	0.27726	TCT		0.393	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		7	230	0	0	0	1	0	7	230					T	118725078	A	T	118725078	3	4	225	1	0	0	0	0	1	0	0	0	10447	304	11	5	1766	5	NKRF	23	118725078	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	122587	118725078	36545482	64	27779											
SPANXN2	494119	broad.mit.edu	37	chrX	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-													ctaacaatcttacctcatcaTtttttttgttattggattca							TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214	197	202			-0.2	0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		7	492						7	492	---	---	---	---	-	142803692	T	-	142803692	7	5	225	1	0	1	0	1	0	0	0	0	14991	1493	52	0	479	0	SPANXN2	23	142803692	Frame_Shift_Del	DEL	T	TCGA-FG-A711-01A-21D-A33T-08	24078614	142803692	12466868	65	27780											
L1CAM	3897	broad.mit.edu	37	chrX	153128221	153128221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgtactggccaatgaacGaaccatcctcgttgaactga	8	12	0	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:153128221G>A	ENST00000370060.1	-	29	3860	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1224			S -> L (in HSAS). {ECO:0000269|PubMed:9744477}.		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)					GCCAATGAACGAACCATCCTC	0.607																																						ENST00000370060.1																			0				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	GRCh37	CM981159	L1CAM	M		c.(3670-3672)tCg>tTg		L1 cell adhesion molecule							102	79	87					X																	153128221		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128221G>A	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.3671C>T	X.37:g.153128221G>A	ENSP00000359077:p.Ser1224Leu					L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L	p.S1224L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			29	3860	-	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)		1224		S -> L (in HSAS).			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3671C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482620	0.84747	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	4.7	4.7	0.59300	.	0.000000	0.52532	D	0.000079	D	0.97917	0.9315	M	0.88842	2.985	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	0.98982	1.0805	10	0.87932	D	0	.	15.4779	0.75501	0.0:0.0:1.0:0.0	.	1215;1220;1224	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	1224;1226;1224;1222;1215;1215;120;1220	ENSP00000359077:S1224L;ENSP00000438430:S1226L;ENSP00000359074:S1224L;ENSP00000439645:S1222L;ENSP00000354712:S1215L;ENSP00000359072:S1215L;ENSP00000359075:S120L;ENSP00000355380:S1220L	ENSP00000355380:S1220L	S	-	2	0	L1CAM	152781415	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	9.550000	0.98110	2.162000	0.67917	0.529000	0.55759	TCG		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		56	136	0	0	0	1	0	56	136					A	153128221	G	A	153128221	3	1	225	1	0	0	0	0	1	0	0	0	8588	1059	37	1	106	1	L1CAM	23	153128221	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	10324529	153128221	2142339	66	27781											
TAS1R1	80835	broad.mit.edu	37	chr1	6639509	6639509	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccaacatgatggctgggctGagcagcctgagcagcggctt	15	11	0	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:6639509G>T	ENST00000333172.6	+	6	2584	c.2391G>T	c.(2389-2391)ctG>ctT	p.L797L	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.L543L|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	797					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)		TGGCTGGGCTGAGCAGCCTGA	0.597																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2389-2391)ctG>ctT		taste receptor, type 1, member 1							89	81	84					1																	6639509		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639509G>T		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.2391G>T	1.37:g.6639509G>T						TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L543L	p.L797L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		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)	6	2584	+	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)	797					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2391G>T	CCDS81.1																																																																																				0.597	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			7	29	1	0	0.00307968	1	0.00307968	7	29					T	6639509	G	T	6639509	2	4	226	1	0	0	0	0	0	0	0	1	15559	1277	45	4		4	TAS1R1	1	6639509	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		6639509	242611112	1	27782											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998781	7998781	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatatctttgaactcatacCtttacactgcctgcatatgt	4	10	2	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398																																						ENST00000377507.3																			1	Substitution - Missense(1)	p.G70C(1)	kidney(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e3+1		tumor necrosis factor receptor superfamily, member 9							176	178	177					1																	7998781		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7998781C>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"Tumor necrosis factor receptor superfamily", "CD molecules"	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.208+1G>T	1.37:g.7998781C>A							p.G70_splice	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	3	374	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	70						Splice_Site	SNP	ENST00000377507.3	37	c.208_splice	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596826	0.46318	.	.	ENSG00000049249	ENST00000377507	D	0.98178	-4.77	5.39	5.39	0.77823	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	L	0.47190	1.495	0.48341	D	0.99963	D	0.89917	1.0	D	0.97110	1.0	D	0.97864	1.0282	9	.	.	.	-25.1718	15.0045	0.71501	0.0:1.0:0.0:0.0	.	70	Q07011	TNR9_HUMAN	C	70	ENSP00000366729:G70C	.	G	-	1	0	TNFRSF9	7921368	1.000000	0.71417	0.999000	0.59377	0.022000	0.10575	3.442000	0.52900	2.698000	0.92095	0.563000	0.77884	GGT		0.398	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Missense_Mutation	11	93	1	0	2.27111e-07	1	2.48238e-07	11	93					A	7998781	C	A	7998781	5	1	226	1	0	0	0	0	0	0	1	0	16297	695	24	4	583	4	TNFRSF9	1	7998781	Splice_Site	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	1359272	7998781	241251840	2	27783											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943140	12943140	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccagggtggacatggCcaaagcttggtcccttagca	11	13	0	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:12943140C>G	ENST00000235349.5	-	2	146	c.76G>C	c.(76-78)Gcc>Ccc	p.A26P		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	26					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)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GTGGACATGGCCAAAGCTTGG	0.577																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(76-78)Gcc>Ccc		PRAME family member 4							111	113	112					1																	12943140		2183	4282	6465	SO:0001583	missense	400735							g.chr1:12943140C>G		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.76G>C	1.37:g.12943140C>G	ENSP00000235349:p.Ala26Pro						p.A26P	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		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)	2	146	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	26					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.76G>C	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	10.17	1.275739	0.23307	.	.	ENSG00000243073	ENST00000235349	T	0.06849	3.25	1.48	-2.96	0.05547	.	0.158012	0.43416	D	0.000567	T	0.22781	0.0550	M	0.90369	3.11	0.09310	N	1	D	0.60160	0.987	D	0.63793	0.918	T	0.12734	-1.0536	10	0.87932	D	0	.	3.5852	0.07969	0.3775:0.4548:0.0:0.1678	.	26	O60810	PRAM4_HUMAN	P	26	ENSP00000235349:A26P	ENSP00000235349:A26P	A	-	1	0	PRAMEF4	12865727	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.367000	0.07553	-1.603000	0.01597	-1.785000	0.00643	GCC		0.577	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		21	125	0	0	0	1	0	21	125					G	12943140	C	G	12943140	3	3	226	1	0	0	0	0	1	0	0	0	12437	739	26	4	1372	4	PRAMEF4	1	12943140	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	4944359	12943140	236307481	3	27784											
ALMS1	7840	broad.mit.edu	37	chr2	73650092	73650092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaagtgaactaagttttGcacctctgaggtaggatgat	10	6	2	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:73650092G>A	ENST00000264448.6	+	4	865	c.754G>A	c.(754-756)Gca>Aca	p.A252T	ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	252					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						ACTAAGTTTTGCACCTCTGAG	0.378																																						ENST00000264448.6																			0				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						c.(754-756)Gca>Aca		Alstrom syndrome 1							185	169	174					2																	73650092		1855	4099	5954	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73650092G>A	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.754G>A	2.37:g.73650092G>A	ENSP00000264448:p.Ala252Thr					ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T	p.A252T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			4	865	+			252					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.754G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364814	0.61513	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16457	3.25;3.22;2.34	5.58	5.58	0.84498	.	0.000000	0.43747	D	0.000534	T	0.26593	0.0650	L	0.36672	1.1	0.26143	N	0.980245	D;D	0.57257	0.979;0.979	P;P	0.56563	0.801;0.801	T	0.04360	-1.0957	10	0.44086	T	0.13	.	15.0737	0.72059	0.0:0.0:1.0:0.0	.	210;252	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	T	210;252;252	ENSP00000386627:A210T;ENSP00000264448:A252T;ENSP00000366944:A252T	ENSP00000264448:A252T	A	+	1	0	ALMS1	73503600	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.435000	0.52849	2.636000	0.89361	0.655000	0.94253	GCA		0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		28	134	0	0	0	1	0	28	134					A	73650092	G	A	73650092	3	1	226	1	0	0	0	0	1	0	0	0	535	1319	46	2	768	2	ALMS1	2	73650092	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		73650092	169549281	4	27785											
NMS	129521	broad.mit.edu	37	chr2	101097609	101097609	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacactgcgacctggggaCgaccctttttccttttcagg	9	13	2	0	rs142655356		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:101097609C>T	ENST00000376865.1	+	8	401	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	132					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GACCTGGGGACGACCCTTTTT	0.423																																						ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(394-396)Cga>Tga		neuromedin S		C	stop/ARG	0,4406		0,0,2203	296	280	285		394	-1.8	0	2	dbSNP_134	285	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	NMS	NM_001011717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		132/154	101097609	1,13005	2203	4300	6503	SO:0001587	stop_gained	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101097609C>T	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.394C>T	2.37:g.101097609C>T	ENSP00000366061:p.Arg132*						p.R132*	NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN			8	401	+			132						Nonsense_Mutation	SNP	ENST00000376865.1	37	c.394C>T	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009680	0.35415	0.0	1.16E-4	ENSG00000204640	ENST00000376865	.	.	.	4.93	-1.78	0.07957	.	0.166652	0.35708	N	0.003033	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7451	5.684	0.17792	0.5534:0.2851:0.0:0.1615	.	.	.	.	X	132	.	ENSP00000366061:R132X	R	+	1	2	NMS	100464041	0.156000	0.22821	0.013000	0.15412	0.460000	0.32559	-0.532000	0.06164	-0.468000	0.06922	0.655000	0.94253	CGA		0.423	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		4	164	0	0	0	1	0	4	164					T	101097609	C	T	101097609	4	4	226	1	0	0	0	0	0	1	0	0	10502	528	19	1	424	1	NMS	2	101097609	Nonsense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	27447517	101097609	142101764	5	27786											
EPC2	26122	broad.mit.edu	37	chr2	149447887	149447887	+	Frame_Shift_Del	DEL	C	C	-													gagagcaacgtcaactattaCaatcgcttgtacaaaggaga							TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:149447887delC	ENST00000258484.6	+	2	292	c.258delC	c.(256-258)tacfs	p.Y86fs	EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	86					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAACTATTACAATCGCTTGT	0.348																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(256-258)tafs		enhancer of polycomb homolog 2 (Drosophila)							193	184	187					2																	149447887		1878	4119	5997	SO:0001589	frameshift_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149447887delC	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.258delC	2.37:g.149447887delC	ENSP00000258484:p.Tyr86fs					EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs	p.Y86fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	2	292	+			86					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Frame_Shift_Del	DEL	ENST00000258484.6	37	c.258delC	CCDS46422.1																																																																																				0.348	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		19	114						19	114	---	---	---	---	-	149447887	C	-	149447887	7	5	226	1	0	1	0	1	0	0	0	0	5161	489	17	0	264	0	EPC2	2	149447887	Frame_Shift_Del	DEL	C	TCGA-FG-A713-01A-11D-A32B-08	48350278	149447887	93751486	6	27787											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			9	39	0	0	0	1	0	9	39					T	209113112	C	T	209113112	3	4	226	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	59665225	209113112	34086261	7	27788											
FANCD2	2177	broad.mit.edu	37	chr3	10128939	10128939	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcttctgctcagaacaaaGaaaaaattggtgatgggcct	10	8	2	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:10128939G>A	ENST00000419585.1	+	34	3618	c.3457G>A	c.(3457-3459)Gaa>Aaa	p.E1153K	FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K|FANCD2_ENST00000287647.3_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000436517.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1153					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)		TCAGAACAAAGAAAAAATTGG	0.348			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				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						c.(3457-3459)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							96	93	94					3																	10128939		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10128939G>A	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.3457G>A	3.37:g.10128939G>A	ENSP00000398754:p.Glu1153Lys					FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1153K	p.E1153K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	34	3550	+			1153					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3457G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845141	0.32606	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.54	2.82	0.32997	.	0.250973	0.45867	N	0.000322	T	0.51244	0.1663	M	0.75447	2.3	0.80722	D	1	B;P	0.35656	0.363;0.514	B;B	0.31751	0.135;0.135	T	0.43782	-0.9370	10	0.39692	T	0.17	.	7.4888	0.27449	0.2647:0.0:0.7353:0.0	.	1153;1153	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	K	1153	ENSP00000287647:E1153K;ENSP00000373318:E1153K;ENSP00000373317:E1153K;ENSP00000398754:E1153K	ENSP00000287647:E1153K	E	+	1	0	FANCD2	10103939	1.000000	0.71417	0.769000	0.31535	0.290000	0.27261	3.261000	0.51530	0.327000	0.23409	-0.142000	0.14014	GAA		0.348	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	62	0	0	0	1	0	6	62					A	10128939	G	A	10128939	3	1	226	1	0	0	0	0	1	0	0	0	5665	943	33	2	3587	2	FANCD2	3	10128939	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		10128939	187893491	8	27789											
GPR128	84873	broad.mit.edu	37	chr3	100378648	100378648	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgttatgtttattacaatctCgatcaaagtgctgtggaaga	9	5	2	1	rs144717099		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:100378648C>G	ENST00000273352.3	+	14	2208	c.1940C>G	c.(1939-1941)tCg>tGg	p.S647W	GPR128_ENST00000475887.1_Missense_Mutation_p.S352W|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	647					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						ATTACAATCTCGATCAAAGTG	0.438																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				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						c.(1939-1941)tCg>tGg		G protein-coupled receptor 128							165	152	157					3																	100378648		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100378648C>G	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.1940C>G	3.37:g.100378648C>G	ENSP00000273352:p.Ser647Trp					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.S352W	p.S647W	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			14	2208	+			647					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1940C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159867	0.21454	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.44083	0.93;0.93	5.78	3.9	0.45041	GPCR, family 2-like (1);	1.171200	0.06213	N	0.685346	T	0.61286	0.2335	M	0.67397	2.05	0.09310	N	1	D;D	0.71674	0.997;0.998	D;D	0.70487	0.969;0.962	T	0.28490	-1.0042	10	0.72032	D	0.01	.	6.2728	0.20963	0.0:0.6553:0.0:0.3447	.	352;647	E9PHI0;Q96K78	.;GP128_HUMAN	W	647;352	ENSP00000273352:S647W;ENSP00000419788:S352W	ENSP00000273352:S647W	S	+	2	0	GPR128	101861338	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.174000	0.16743	0.684000	0.31448	0.563000	0.77884	TCG		0.438	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			8	60	0	0	0	1	0	8	60					G	100378648	C	G	100378648	3	3	226	1	0	0	0	0	1	0	0	0	6641	893	31	4	1994	4	GPR128	3	100378648	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	90249709	100378648	97643782	9	27790											
PLXND1	23129	broad.mit.edu	37	chr3	129305068	129305068	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgccgcacccacgcagtcCccacaggtggagtgcacgtt	11	17	0	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:129305068C>G	ENST00000324093.4	-	4	1846	c.1668G>C	c.(1666-1668)ggG>ggC	p.G556G	PLXND1_ENST00000393239.1_Silent_p.G556G	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	556					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						CCACGCAGTCCCCACAGGTGG	0.692																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				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						c.(1666-1668)ggG>ggC		plexin D1							12	12	12					3																	129305068		2170	4260	6430	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129305068C>G	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.1668G>C	3.37:g.129305068C>G						PLXND1_ENST00000324093.4_Silent_p.G556G	p.G556G			Q9Y4D7	PLXD1_HUMAN			4	1846	-			556					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.1668G>C	CCDS33854.1																																																																																				0.692	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	8	0	0	0	1	0	3	8					G	129305068	C	G	129305068	2	3	226	1	0	0	0	0	0	0	0	1	12127	610	22	4		4	PLXND1	3	129305068	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	28926420	129305068	68717362	10	27791											
PCDH7	5099	broad.mit.edu	37	chr4	30724278	30724278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagacgagaacgacaacGtgccgtccattgaaatccgc	9	12	1	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:30724278G>A	ENST00000361762.2	+	1	2242	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	412	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAACGACAACGTGCCGTCCAT	0.632																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1234-1236)Gtg>Atg		protocadherin 7							44	46	45					4																	30724278		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724278G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1234G>A	4.37:g.30724278G>A	ENSP00000355243:p.Val412Met					PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M	p.V412M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2242	+			412			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1234G>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.70|15.70	2.910418|2.910418	0.52439|0.52439	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.20598	.|2.06;2.06	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.39733|0.39733	0.1089|0.1089	L|L	0.45352|0.45352	1.415|1.415	0.48185|0.48185	D|D	0.999604|0.999604	.|D;D;D	.|0.67145	.|0.996;0.996;0.993	.|D;D;P	.|0.65684	.|0.937;0.937;0.867	T|T	0.16012|0.16012	-1.0417|-1.0417	5|9	.|0.66056	.|D	.|0.02	.|.	18.8233|18.8233	0.92106|0.92106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|412;365;412	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	H|M	101|412;412;365	.|ENSP00000355243:V412M;ENSP00000441802:V412M	.|ENSP00000330302:V365M	R|V	+|+	2|1	0|0	PCDH7|PCDH7	30333376|30333376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	7.863000|7.863000	0.87023|0.87023	2.453000|2.453000	0.82957|0.82957	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.632	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	37	0	0	0	1	0	4	37					A	30724278	G	A	30724278	3	1	226	1	0	0	0	0	1	0	0	0	11516	1145	40	1	1236	1	PCDH7	4	30724278	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		30724278	160429998	11	27792											
FRAS1	80144	broad.mit.edu	37	chr4	79207664	79207664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcctacctgtggggacgGcttctaccaagatcgccatt	11	12	1	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:79207664G>A	ENST00000325942.6	+	14	1945	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D|FRAS1_ENST00000264895.6_Missense_Mutation_p.G502D	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	502					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						TGTGGGGACGGCTTCTACCAA	0.622																																						ENST00000264895.6																			0				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						c.(1504-1506)gGc>gAc		Fraser syndrome 1							71	74	73					4																	79207664		2134	4238	6372	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79207664G>A	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.1505G>A	4.37:g.79207664G>A	ENSP00000326330:p.Gly502Asp					FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D|FRAS1_ENST00000325942.6_Missense_Mutation_p.G502D	p.G502D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			14	1945	+			502					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1505G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.80|16.80	3.222332|3.222332	0.58560|0.58560	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899	.|T;T;T	.|0.51574	.|0.7;0.7;0.87	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70736|0.70736	0.3258|0.3258	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.65815	.|0.995;0.995;0.818;0.937	.|P;P;B;P	.|0.60886	.|0.88;0.88;0.263;0.788	T|T	0.76602|0.76602	-0.2899|-0.2899	5|10	.|0.72032	.|D	.|0.01	.|.	18.75|18.75	0.91810|0.91810	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|502;502;502;502	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	T|D	431|502	.|ENSP00000326330:G502D;ENSP00000264895:G502D;ENSP00000264899:G502D	.|ENSP00000264895:G502D	A|G	+|+	1|2	0|0	FRAS1|FRAS1	79426688|79426688	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.172000|0.172000	0.22775|0.22775	3.928000|3.928000	0.56506|0.56506	2.433000|2.433000	0.82419|0.82419	0.557000|0.557000	0.71058|0.71058	GCT|GGC		0.622	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			3	50	0	0	0	1	0	3	50					A	79207664	G	A	79207664	3	1	226	1	0	0	0	0	1	0	0	0	6042	1203	42	2	1559	2	FRAS1	4	79207664	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	48483386	79207664	111946612	12	27793											
GALNT10	55568	broad.mit.edu	37	chr5	153755873	153755873	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaagactacatggcccTtttccccagtgtgaggattc	9	11	1	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr5:153755873T>C	ENST00000297107.6	+	5	742	c.605T>C	c.(604-606)cTt>cCt	p.L202P	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	202	Catalytic subdomain A.				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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(604-606)cTt>cCt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							137	134	135					5																	153755873		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153755873T>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.605T>C	5.37:g.153755873T>C	ENSP00000297107:p.Leu202Pro					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P	p.L202P	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	742	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	202			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.605T>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.036802	0.35893	.	.	ENSG00000164574	ENST00000425427;ENST00000297107	T;T	0.59772	0.24;0.24	5.98	-6.42	0.01932	Glycosyl transferase, family 2 (1);	0.438212	0.26923	N	0.021806	T	0.38904	0.1058	L	0.33710	1.025	0.09310	N	0.999996	B;B	0.30634	0.288;0.0	B;B	0.35899	0.213;0.0	T	0.37596	-0.9699	10	0.46703	T	0.11	.	8.2076	0.31465	0.5976:0.0:0.248:0.1545	.	202;202	Q86SR1;Q86SR1-3	GLT10_HUMAN;.	P	202	ENSP00000415210:L202P;ENSP00000297107:L202P	ENSP00000297107:L202P	L	+	2	0	GALNT10	153736066	0.991000	0.36638	0.165000	0.22776	0.896000	0.52359	2.523000	0.45580	-0.512000	0.06505	0.533000	0.62120	CTT		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		3	110	0	0	0	1	0	3	110					C	153755873	T	C	153755873	3	2	226	1	0	0	0	0	1	0	0	0	6208	1609	56	3	623	3	GALNT10	5	153755873	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08		153755873	27159387	13	27794											
RADIL	55698	broad.mit.edu	37	chr7	4917591	4917591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcaggacaccaggggcCgacagctgggtggagagctc	15	12	1	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:4917591C>T	ENST00000399583.3	-	2	367	c.180G>A	c.(178-180)tcG>tcA	p.S60S	RADIL_ENST00000536091.1_Silent_p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.S60S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGGGGCCGACAGCTGGG	0.657																																						ENST00000399583.3																			1	Substitution - coding silent(1)	p.S60S(1)	lung(1)	NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(178-180)tcG>tcA		Ras association and DIL domains							19	24	23					7																	4917591		1993	4153	6146	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917591C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.180G>A	7.37:g.4917591C>T						RADIL_ENST00000536091.1_Silent_p.S60S	p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	367	-		Ovarian(82;0.0175)	60					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.180G>A	CCDS43544.1																																																																																				0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	22	0	0	0	1	0	3	22					T	4917591	C	T	4917591	2	4	226	1	0	0	0	0	0	0	0	1	12997	639	23	1		1	RADIL	7	4917591	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		4917591	154221072	14	27795											
CNOT4	4850	broad.mit.edu	37	chr7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtactattgagagaaTtggcatttgtagctgcagca	11	5	0	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:135078909T>C	ENST00000315544.5	-	10	1667	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000428680.2_Missense_Mutation_p.N460S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1378-1380)aAt>aGt		CCR4-NOT transcription complex, subunit 4							124	128	127					7																	135078909		1963	4170	6133	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078909T>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1388A>G	7.37:g.135078909T>C	ENSP00000326731:p.Asn463Ser					CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S	p.N460S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1658	-			463					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1379A>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519633	0.44866	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.45276	0.9;0.9;0.93;0.93;0.91;0.91	6.17	6.17	0.99709	.	0.044381	0.85682	D	0.000000	T	0.28699	0.0711	N	0.19112	0.55	0.53688	D	0.999973	B;B;B;P;P;P	0.35872	0.001;0.001;0.39;0.525;0.525;0.525	B;B;B;B;B;B	0.35353	0.001;0.001;0.099;0.201;0.156;0.156	T	0.09818	-1.0657	10	0.10902	T	0.67	-15.4612	16.0034	0.80327	0.0:0.0:0.0:1.0	.	460;463;463;460;463;460	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	463;460;463;463;460;460;463	ENSP00000445508:N463S;ENSP00000388491:N460S;ENSP00000406777:N463S;ENSP00000354673:N460S;ENSP00000399108:N460S;ENSP00000326731:N463S	ENSP00000262563:N463S	N	-	2	0	CNOT4	134729449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.510000	0.60455	2.371000	0.80710	0.533000	0.62120	AAT		0.502	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		18	62	0	0	0	1	0	18	62					C	135078909	T	C	135078909	3	2	226	1	0	0	0	0	1	0	0	0	3621	1493	52	3	653	3	CNOT4	7	135078909	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	130161318	135078909	24059754	15	27796											
PRSS55	203074	broad.mit.edu	37	chr8	10387145	10387145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgaacctttctgtggcGgctccatcctcaacaagtgg	11	11	2	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:10387145G>A	ENST00000328655.3	+	2	323	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	95	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TTTCTGTGGCGGCTCCATCCT	0.547																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(283-285)Ggc>Agc		protease, serine, 55							249	246	247					8																	10387145		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387145G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.283G>A	8.37:g.10387145G>A	ENSP00000333003:p.Gly95Ser					PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S|PRSS51_ENST00000523024.1_RNA	p.G95S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			2	323	+			95			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.283G>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046229	0.55110	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.98221	-4.8;-4.8	4.07	4.07	0.47477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33272	N	0.005098	D	0.98940	0.9640	M	0.89968	3.075	0.38881	D	0.956916	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	.	12.0585	0.53548	0.0:0.0:1.0:0.0	.	95	Q6UWB4	PRS55_HUMAN	S	95	ENSP00000333003:G95S;ENSP00000430459:G95S	ENSP00000333003:G95S	G	+	1	0	PRSS55	10424555	0.999000	0.42202	0.980000	0.43619	0.056000	0.15407	6.623000	0.74238	2.555000	0.86185	0.561000	0.74099	GGC		0.547	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		30	268	0	0	0	1	0	30	268					A	10387145	G	A	10387145	3	1	226	1	0	0	0	0	1	0	0	0	12634	1116	39	1	289	1	PRSS55	8	10387145	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		10387145	135976877	16	27797											
ANK1	286	broad.mit.edu	37	chr8	41521247	41521247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcccctggaatattcTgaaactcattcccctggaat	6	14	2	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:41521247T>C	ENST00000347528.4	-	40	5491	c.5408A>G	c.(5407-5409)cAg>cGg	p.Q1803R	ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|ANK1_ENST00000396942.1_Missense_Mutation_p.Q1803R|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R|ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|RP11-930P14.1_ENST00000520418.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1803	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAATATTCTGAAACTCATT	0.512																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5407-5409)cAg>cGg		ankyrin 1, erythrocytic							155	120	132					8																	41521247		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41521247T>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5408A>G	8.37:g.41521247T>C	ENSP00000339620:p.Gln1803Arg					ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000522388.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R	p.Q1803R			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		40	5491	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1803			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5408A>G	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171071	0.38315	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000457297;ENST00000396942;ENST00000352337;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709;ENST00000348036;ENST00000335651	T;T;T;T;T;D;D;D;T	0.86366	-0.13;-0.11;-0.17;-0.1;-0.16;-1.69;-2.11;-2.08;-0.13	6.04	6.04	0.98038	.	0.419735	0.23714	N	0.045285	D	0.89287	0.6672	L	0.49778	1.585	0.28718	N	0.903167	P;B;P;B;B;B;P;B;D;B	0.65815	0.876;0.244;0.589;0.411;0.0;0.413;0.454;0.358;0.995;0.178	P;B;B;B;B;B;B;B;D;B	0.68483	0.79;0.048;0.117;0.03;0.002;0.066;0.105;0.153;0.958;0.108	D	0.83528	0.0089	10	0.32370	T	0.25	.	7.3399	0.26632	0.1415:0.0:0.1477:0.7108	.	78;1844;1641;1803;1803;1803;957;78;78;78	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;A0PJN8;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.;.	R	1803;1803;1803;78;1803;1803;78;78;78;1844;78;78	ENSP00000339620:Q1803R;ENSP00000289734:Q1803R;ENSP00000369082:Q1803R;ENSP00000380147:Q1803R;ENSP00000309131:Q1803R;ENSP00000428750:Q78R;ENSP00000430368:Q78R;ENSP00000319123:Q78R;ENSP00000265709:Q1844R	ENSP00000265709:Q1844R	Q	-	2	0	ANK1	41640404	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.186000	0.42593	2.317000	0.78254	0.459000	0.35465	CAG		0.512	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	55	0	0	0	1	0	4	55					C	41521247	T	C	41521247	3	2	226	1	0	0	0	0	1	0	0	0	620	1580	55	3	352	3	ANK1	8	41521247	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	31134102	41521247	104842775	17	27798											
LTBP3	4054	broad.mit.edu	37	chr11	65320906	65320906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcactcacactgcagctgGggacacttgtggcacttgct	11	12	1	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:65320906G>A	ENST00000301873.5	-	4	1228	c.960C>T	c.(958-960)ccC>ccT	p.P320P	LTBP3_ENST00000322147.4_Silent_p.P320P|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	320	TB 1.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACTGCAGCTGGGGACACTTGT	0.667																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(958-960)ccC>ccT		latent transforming growth factor beta binding protein 3							28	29	29					11																	65320906		2196	4293	6489	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65320906G>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.960C>T	11.37:g.65320906G>A						LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P320P	p.P320P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			4	1228	-			320			TB 1.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.960C>T	CCDS44647.1																																																																																				0.667	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		6	23	0	0	0	1	0	6	23					A	65320906	G	A	65320906	2	1	226	1	0	0	0	0	0	0	0	1	9075	1219	43	2		2	LTBP3	11	65320906	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		65320906	69685610	18	27799											
RBM7	10179	broad.mit.edu	37	chr11	114278301	114278301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctcccagtggcgccaAggtacaccatcatcacagcg	9	15	3	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:114278301A>C	ENST00000540163.1	+	5	1215	c.573A>C	c.(571-573)caA>caC	p.Q191H	RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	191					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTGGCGCCAAGGTACACCAT	0.438																																						ENST00000540163.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(571-573)caA>caC		RNA binding motif protein 7							143	125	131					11																	114278301		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114278301A>C	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"RNA binding motif (RRM) containing"	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.573A>C	11.37:g.114278301A>C	ENSP00000439918:p.Gln191His					RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H|RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR	p.Q191H			Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	5	1215	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	191					B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.573A>C	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218699	0.39201	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.28895	1.59;2.62	5.75	-4.04	0.04010	.	0.374773	0.33180	N	0.005192	T	0.25419	0.0618	L	0.47716	1.5	0.26055	N	0.981425	B;D	0.56035	0.0;0.974	B;P	0.49752	0.0;0.621	T	0.41342	-0.9514	10	0.13853	T	0.58	-17.0093	9.5135	0.39091	0.3231:0.1217:0.5552:0.0	.	191;191	Q6IRX3;Q9Y580	.;RBM7_HUMAN	H	191;192;71	ENSP00000439918:Q191H;ENSP00000364639:Q192H	ENSP00000364639:Q192H	Q	+	3	2	RBM7	113783511	0.257000	0.24022	0.857000	0.33713	0.338000	0.28826	-0.729000	0.04920	-0.678000	0.05224	-0.272000	0.10252	CAA		0.438	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		17	109	0	0	0	1	0	17	109					C	114278301	A	C	114278301	3	2	226	1	0	0	0	0	1	0	0	0	13145	69	3	5	591	5	RBM7	11	114278301	Missense_Mutation	SNP	A	TCGA-FG-A713-01A-11D-A32B-08	48957395	114278301	20728215	19	27800											
FEZ1	9638	broad.mit.edu	37	chr11	125359621	125359621	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cctccgggtcctccgagcagGagggtcgaaggtcctcaaac	13	14	1	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:125359621G>C	ENST00000278919.3	-	2	287	c.53C>G	c.(52-54)tCc>tGc	p.S18C	FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C|FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	18					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)		CTCCGAGCAGGAGGGTCGAAG	0.537																																					Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				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						c.(52-54)tCc>tGc		fasciculation and elongation protein zeta 1 (zygin I)							67	71	70					11																	125359621		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359621G>C	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.53C>G	11.37:g.125359621G>C	ENSP00000278919:p.Ser18Cys					FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C|FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C	p.S18C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	287	-	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)	18					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.53C>G	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	G	3.498	-0.102479	0.06967	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.35973	1.28	5.62	2.69	0.31865	.	0.195662	0.56097	N	0.000031	T	0.19406	0.0466	N	0.04508	-0.205	0.30617	N	0.758858	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07616	-1.0763	10	0.51188	T	0.08	-2.3078	14.7186	0.69289	0.0:0.5776:0.4224:0.0	.	18;18	B4DKG5;Q99689	.;FEZ1_HUMAN	C	18	ENSP00000278919:S18C	ENSP00000278919:S18C	S	-	2	0	FEZ1	124864831	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	1.717000	0.37991	0.297000	0.22615	-0.133000	0.14855	TCC		0.537	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		14	53	0	0	0	1	0	14	53					C	125359621	G	C	125359621	3	2	226	1	0	0	0	0	1	0	0	0	5823	1174	41	4	1165	4	FEZ1	11	125359621	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	11081320	125359621	9646895	20	27801											
SLC6A12	6539	broad.mit.edu	37	chr12	307979	307979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgagggtccttgaggCggaacaaatctggcttcaag	12	9	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:307979C>T	ENST00000428720.1	-	8	1573	c.830G>A	c.(829-831)cGc>cAc	p.R277H	SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	277					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTCCTTGAGGCGGAACAAATC	0.517																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(829-831)cGc>cAc		solute carrier family 6 (neurotransmitter transporter), member 12							145	122	129					12																	307979		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:307979C>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.830G>A	12.37:g.307979C>T	ENSP00000388184:p.Arg277His					SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H	p.R277H	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		8	1573	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		277					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.830G>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660863	0.67700	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.44	4.44	0.53790	.	0.064020	0.64402	D	0.000017	D	0.89100	0.6619	M	0.93420	3.415	0.49389	D	0.999786	D	0.71674	0.998	D	0.66497	0.944	D	0.92416	0.5941	10	0.72032	D	0.01	.	17.4416	0.87566	0.0:1.0:0.0:0.0	.	277	P48065	S6A12_HUMAN	H	277	ENSP00000352702:R277H;ENSP00000380464:R277H;ENSP00000388184:R277H;ENSP00000399136:R277H;ENSP00000444268:R277H	ENSP00000352702:R277H	R	-	2	0	SLC6A12	178240	0.772000	0.28567	0.980000	0.43619	0.762000	0.43233	1.967000	0.40491	2.169000	0.68431	0.655000	0.94253	CGC		0.517	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		14	72	0	0	0	1	0	14	72					T	307979	C	T	307979	3	4	226	1	0	0	0	0	1	0	0	0	14675	768	27	1	1050	1	SLC6A12	12	307979	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		307979	133543916	21	27802											
CCNT1	904	broad.mit.edu	37	chr12	49087746	49087746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcagcatatgcataTtgtgacttcacattggcttc	9	9	2	1	rs561483800		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49087746T>C	ENST00000261900.3	-	9	1473	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	417					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CATATGCATATTGTGACTTCA	0.468																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1249-1251)caA>caG		cyclin T1							155	161	159					12																	49087746		2203	4300	6503	SO:0001819	synonymous_variant	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087746T>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1251A>G	12.37:g.49087746T>C							p.Q417Q	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1473	-			417					A9XU13|E7EX76|O60581	Silent	SNP	ENST00000261900.3	37	c.1251A>G	CCDS8766.1																																																																																				0.468	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		39	121	0	0	0	1	0	39	121					C	49087746	T	C	49087746	2	2	226	1	0	0	0	0	0	0	0	1	2934	1490	52	3		3	CCNT1	12	49087746	Silent	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	48779767	49087746	84764149	22	27803											
TUBA1A	7846	broad.mit.edu	37	chr12	49580473	49580476	+	Frame_Shift_Del	DEL	GAAG	GAAG	-													gtctcactgaagaaggtgttGaaggaatcatctcctccccc					rs372306943		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49580473_49580476delGAAG	ENST00000295766.5	-	2	623_626	c.144_147delCTTC	c.(142-147)tccttcfs	p.SF48fs	TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000301071.7_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	48					'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)	AGAAGGTGTTGAAGGAATCATCTC	0.559																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(142-147)tcfs		tubulin, alpha 1a																																				SO:0001589	frameshift_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580473_49580476delGAAG	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.144_147delCTTC	12.37:g.49580473_49580476delGAAG	ENSP00000439020:p.Ser48fs					TUBA1A_ENST00000295766.5_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs	p.SF48fs	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			2	488_491	-			48					A8K0B8|G3V1U9|P04687|P05209	Frame_Shift_Del	DEL	ENST00000295766.5	37	c.144_147delCTTC	CCDS58227.1																																																																																				0.559	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		21	117						21	117	---	---	---	---	-	49580476	GAAG	-	49580473	7	5	226	1	0	1	0	1	0	0	0	0	16740	1281	45	0	1220	0	TUBA1A	12	49580473	Frame_Shift_Del	DEL	GAAG	TCGA-FG-A713-01A-11D-A32B-08	492727	49580473	84271422	23	27804											
TAC3	6866	broad.mit.edu	37	chr12	57409569	57409569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggctgtgaatagcaGcatgatcctcatggtgcctg	13	9	1	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:57409569G>A	ENST00000458521.2	-	2	172	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TAC3_ENST00000415231.1_Silent_p.L5L|TAC3_ENST00000441881.1_Silent_p.L5L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	5					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTGAATAGCAGCATGATCCTC	0.547																																						ENST00000458521.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(13-15)Ctg>Ttg		tachykinin 3							78	71	73					12																	57409569		2203	4300	6503	SO:0001819	synonymous_variant	6866				female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding	g.chr12:57409569G>A	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"Endogenous ligands"	11521	protein-coding gene	gene with protein product	"preprotachykinin-B"	162330	"neuromedin K", "neurokinin beta"	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.13C>T	12.37:g.57409569G>A						TAC3_ENST00000441881.1_Silent_p.L5L|TAC3_ENST00000415231.1_Silent_p.L5L	p.L5L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN			2	172	-			5					Q6IAG2|Q71BC6|Q71BC9	Silent	SNP	ENST00000458521.2	37	c.13C>T	CCDS8928.1																																																																																				0.547	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667		5	36	0	0	0	1	0	5	36					A	57409569	G	A	57409569	2	1	226	1	0	0	0	0	0	0	0	1	15496	962	34	2		2	TAC3	12	57409569	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	7829096	57409569	76442326	24	27805											
LRRIQ1	84125	broad.mit.edu	37	chr12	85459188	85459188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacttaagtacattgatgCacaggtatgctctctgccct	7	10	1	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:85459188C>T	ENST00000393217.2	+	9	2601	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	847										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)		TACATTGATGCACAGGTATGC	0.333																																						ENST00000393217.2																			0				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						c.(2539-2541)gCa>gTa		leucine-rich repeats and IQ motif containing 1							105	99	101					12																	85459188		2203	4299	6502	SO:0001583	missense	84125							g.chr12:85459188C>T	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.2540C>T	12.37:g.85459188C>T	ENSP00000376910:p.Ala847Val						p.A847V	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	9	2601	+			847					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2540C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	4.773	0.143654	0.09134	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.08008	3.14	5.6	-0.907	0.10521	.	0.377447	0.22341	N	0.061323	T	0.03959	0.0111	N	0.16098	0.37	0.31236	N	0.695777	B;B	0.18461	0.003;0.028	B;B	0.20955	0.008;0.032	T	0.44267	-0.9339	10	0.10636	T	0.68	.	9.4524	0.38734	0.0:0.2406:0.0:0.7594	.	847;822	Q96JM4;C9JI57	LRIQ1_HUMAN;.	V	847;822;847	ENSP00000376910:A847V	ENSP00000256007:A847V	A	+	2	0	LRRIQ1	83983319	0.984000	0.35163	0.996000	0.52242	0.963000	0.63663	1.060000	0.30530	-0.056000	0.13221	0.585000	0.79938	GCA		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		7	53	0	0	0	1	0	7	53					T	85459188	C	T	85459188	3	4	226	1	0	0	0	0	1	0	0	0	9029	710	25	2	2570	2	LRRIQ1	12	85459188	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	28049619	85459188	48392707	25	27806											
ACACB	32	broad.mit.edu	37	chr12	109703224	109703224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacaacaaccaggtggttGtgcagtggctggaacagcac	15	9	0	0	rs373300737		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:109703224G>T	ENST00000338432.7	+	52	7263	c.7144G>T	c.(7144-7146)Gtg>Ttg	p.V2382L	ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2382					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)	CCAGGTGGTTGTGCAGTGGCT	0.627																																						ENST00000338432.7																			0				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						c.(7144-7146)Gtg>Ttg		acetyl-CoA carboxylase beta	Biotin(DB00121)						58	44	49					12																	109703224		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109703224G>T	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.7144G>T	12.37:g.109703224G>T	ENSP00000341044:p.Val2382Leu					ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L|ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR	p.V2382L			O00763	ACACB_HUMAN			52	7263	+			2382					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.7144G>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314196	0.60414	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.56444	0.46;0.46;0.46	4.54	4.54	0.55810	.	0.060283	0.64402	D	0.000003	T	0.55657	0.1934	M	0.67397	2.05	0.80722	D	1	B	0.21071	0.051	B	0.26864	0.074	T	0.58983	-0.7539	10	0.56958	D	0.05	.	17.6802	0.88240	0.0:0.0:1.0:0.0	.	2382	O00763	ACACB_HUMAN	L	2382;2382;2312;1613;76	ENSP00000341044:V2382L;ENSP00000367079:V2382L;ENSP00000367085:V2312L	ENSP00000341044:V2382L	V	+	1	0	ACACB	108187607	1.000000	0.71417	0.855000	0.33649	0.304000	0.27724	9.644000	0.98468	2.256000	0.74724	0.555000	0.69702	GTG		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	28	1	0	0.000274275	1	0.000280238	6	28					T	109703224	G	T	109703224	3	4	226	1	0	0	0	0	1	0	0	0	107	1377	48	4	7346	4	ACACB	12	109703224	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	24244036	109703224	24148671	26	27807											
DTX1	1840	broad.mit.edu	37	chr12	113533219	113533219	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaacgagaaaggccggaaGgtgggtgcccagccgtgagg	17	9	0	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:113533219G>T	ENST00000257600.3	+	8	2141	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	546					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGCCGGAAGGTGGGTGCCC	0.632																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.e8+1		deltex homolog 1 (Drosophila)							42	46	45					12																	113533219		2203	4300	6503	SO:0001630	splice_region_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113533219G>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1638+1G>T	12.37:g.113533219G>T						DTX1_ENST00000547974.1_3'UTR	p.K546_splice	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			8	2141	+			546					O60630|Q9BS04	Splice_Site	SNP	ENST00000257600.3	37	c.1638_splice	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772176	0.69992	.	.	ENSG00000135144	ENST00000257600	T	0.23950	1.88	4.51	4.51	0.55191	.	0.163309	0.52532	D	0.000067	T	0.57592	0.2064	M	0.91818	3.245	0.80722	D	1	D	0.64830	0.994	D	0.64144	0.922	T	0.70407	-0.4880	10	0.87932	D	0	-0.2098	15.9804	0.80105	0.0:0.0:1.0:0.0	.	546	Q86Y01	DTX1_HUMAN	N	546	ENSP00000257600:K546N	ENSP00000257600:K546N	K	+	3	2	DTX1	112017602	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.780000	0.85658	2.042000	0.60477	0.561000	0.74099	AAG		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		Missense_Mutation	6	50	1	0	0.000157383	1	0.000164378	6	50					T	113533219	G	T	113533219	5	4	226	1	0	0	0	0	0	0	1	0	4793	1014	35	4	1668	4	DTX1	12	113533219	Splice_Site	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	3829995	113533219	20318676	27	27808											
LECT1	11061	broad.mit.edu	37	chr13	53298165	53298165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctctgtttggtcacggcGcccacctcaggaatacgagc	11	13	3	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr13:53298165G>A	ENST00000377962.3	-	4	513	c.435C>T	c.(433-435)ggC>ggT	p.G145G	LECT1_ENST00000448904.2_Silent_p.G145G			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	145	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TGGTCACGGCGCCCACCTCAG	0.483																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(433-435)ggC>ggT		leukocyte cell derived chemotaxin 1							154	113	127					13																	53298165		2203	4300	6503	SO:0001819	synonymous_variant	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53298165G>A	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.435C>T	13.37:g.53298165G>A						LECT1_ENST00000377962.3_Silent_p.G145G	p.G145G	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	4	545	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	145			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	ENST00000377962.3	37	c.435C>T	CCDS9437.1																																																																																				0.483	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			10	13	0	0	0	1	0	10	13					A	53298165	G	A	53298165	2	1	226	1	0	0	0	0	0	0	0	1	8712	1074	38	1		1	LECT1	13	53298165	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		53298165	61871713	28	27809											
HECTD1	25831	broad.mit.edu	37	chr14	31618142	31618142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaatgtttggttcctcTattagattcaaatacaaaac	5	6	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:31618142T>C	ENST00000399332.1	-	14	2868	c.2380A>G	c.(2380-2382)Aga>Gga	p.R794G	HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	794					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)		TTGGTTCCTCTATTAGATTCA	0.308																																						ENST00000399332.1																			0				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						c.(2380-2382)Aga>Gga		HECT domain containing E3 ubiquitin protein ligase 1							93	87	89					14																	31618142		1815	4076	5891	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31618142T>C	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.2380A>G	14.37:g.31618142T>C	ENSP00000382269:p.Arg794Gly					HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G	p.R794G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	14	2868	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		794					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2380A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.666240	0.67814	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.47322	0.1439	M	0.72118	2.19	0.80722	D	1	D;D	0.63880	0.993;0.967	D;P	0.72338	0.977;0.879	T	0.46470	-0.9189	10	0.87932	D	0	-13.2662	16.4084	0.83698	0.0:0.0:0.0:1.0	.	794;794	D3DS86;Q9ULT8	.;HECD1_HUMAN	G	794;794;794;268;794	ENSP00000450697:R794G;ENSP00000382269:R794G;ENSP00000451860:R268G;ENSP00000452015:R794G	ENSP00000261312:R794G	R	-	1	2	HECTD1	30687893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.853000	0.55941	2.280000	0.76307	0.528000	0.53228	AGA		0.308	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			8	54	0	0	0	1	0	8	54					C	31618142	T	C	31618142	3	2	226	1	0	0	0	0	1	0	0	0	7039	1530	53	3	5572	3	HECTD1	14	31618142	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08		31618142	75731398	29	27810											
DAAM1	23002	broad.mit.edu	37	chr14	59797962	59797962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcccaggtggaccctcGcctggagcaccaggagggcc	13	15	1	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:59797962G>A	ENST00000395125.1	+	13	1619	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	DAAM1_ENST00000360909.3_Silent_p.S532S|DAAM1_ENST00000351081.1_Silent_p.S532S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	532	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGACCCTCGCCTGGAGCAC	0.517																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1594-1596)tcG>tcA		dishevelled associated activator of morphogenesis 1							83	87	85					14																	59797962		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797962G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1596G>A	14.37:g.59797962G>A						DAAM1_ENST00000351081.1_Silent_p.S532S|DAAM1_ENST00000360909.3_Silent_p.S532S	p.S532S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1619	+			532			FH1.|Pro-rich.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.1596G>A	CCDS9737.1																																																																																				0.517	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		14	81	0	0	0	1	0	14	81					A	59797962	G	A	59797962	2	1	226	1	0	0	0	0	0	0	0	1	4215	1074	38	1		1	DAAM1	14	59797962	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	28179820	59797962	47551578	30	27811											
GREM1	26585	broad.mit.edu	37	chr15	33023158	33023158	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgacggagcgcaaatacctGaagcgagactggtgcaaaac	13	9	0	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr15:33023158G>A	ENST00000300177.4	+	2	456	c.267G>A	c.(265-267)ctG>ctA	p.L89L	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000322805.4_Silent_p.L48L	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	89					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCAAATACCTGAAGCGAGACT	0.632																																						ENST00000300177.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(265-267)ctG>ctA		gremlin 1, DAN family BMP antagonist							52	44	47					15																	33023158		2201	4300	6501	SO:0001819	synonymous_variant	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023158G>A		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"cysteine knot superfamily 1, BMP antagonist 1", "gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 1", "colorectal adenoma and carcinoma 1"	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.267G>A	15.37:g.33023158G>A						GREM1_ENST00000322805.4_Silent_p.L48L|GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000560677.1_3'UTR	p.L89L	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	456	+		all_lung(180;1.49e-09)	89					Q52LV3|Q8N914|Q8N936	Silent	SNP	ENST00000300177.4	37	c.267G>A	CCDS10029.1																																																																																				0.632	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		7	31	0	0	0	1	0	7	31					A	33023158	G	A	33023158	2	1	226	1	0	0	0	0	0	0	0	1	6761	1277	45	2		2	GREM1	15	33023158	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		33023158	69508234	31	27812											
SEC14L5	9717	broad.mit.edu	37	chr16	5053535	5053535	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgggtcggctgctcatCgtgcgagccccccgagtctt	12	16	2	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr16:5053535C>T	ENST00000251170.7	+	11	1443	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	421	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGCTCATCGTGCGAGCCC	0.657																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1261-1263)atC>atT		SEC14-like 5 (S. cerevisiae)							34	39	38					16																	5053535		1903	4148	6051	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053535C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1263C>T	16.37:g.5053535C>T							p.I421I	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			11	1443	+			421			CRAL-TRIO.			Silent	SNP	ENST00000251170.7	37	c.1263C>T	CCDS45403.1																																																																																				0.657	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			7	32	0	0	0	1	0	7	32					T	5053535	C	T	5053535	2	4	226	1	0	0	0	0	0	0	0	1	13985	874	31	1		1	SEC14L5	16	5053535	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		5053535	85301218	32	27813											
SDK2	54549	broad.mit.edu	37	chr17	71382018	71382018	+	Frame_Shift_Del	DEL	G	G	-													tagcacggaggtggtggtgtGgggcgtcacggagaggatgg							TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr17:71382018delG	ENST00000392650.3	-	32	4537	c.4537delC	c.(4537-4539)cacfs	p.H1513fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1513	Fibronectin type-III 10. {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						GTGGTGGTGTGGGGCGTCACG	0.632																																						ENST00000392650.3																			0				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						c.(4537-4539)acfs		sidekick cell adhesion molecule 2							79	69	73					17																	71382018		2203	4300	6503	SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71382018delG	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.4537delC	17.37:g.71382018delG	ENSP00000376421:p.His1513fs					SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs	p.H1513fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			32	4537	-			1513			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Del	DEL	ENST00000392650.3	37	c.4537delC	CCDS45769.1																																																																																				0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		2	4						2	4	---	---	---	---	-	71382018	G	-	71382018	7	5	226	1	0	1	0	1	0	0	0	0	13969	1348	47	0	2037	0	SDK2	17	71382018	Frame_Shift_Del	DEL	G	TCGA-FG-A713-01A-11D-A32B-08		71382018	9813192	33	27814											
CEP192	55125	broad.mit.edu	37	chr18	13100327	13100327	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaaagttcaaattcgAgaagatttaactcaagtgga	9	4	2	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr18:13100327A>G	ENST00000325971.8	+	36	6492	c.4899A>G	c.(4897-4899)cgA>cgG	p.R1633R	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Silent_p.R2229R|CEP192_ENST00000430049.2_Silent_p.R1754R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1633					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						TTCAAATTCGAGAAGATTTAA	0.343																																						ENST00000506447.1																			0				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						c.(6685-6687)cgA>cgG		centrosomal protein 192kDa							55	53	54					18																	13100327		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13100327A>G	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.4899A>G	18.37:g.13100327A>G						CEP192_ENST00000325971.8_Silent_p.R1633R|CEP192_ENST00000430049.2_Silent_p.R1754R|CEP192_ENST00000540847.2_3'UTR	p.R2229R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6767	+			1824					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.6687A>G																																																																																					0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		6	38	0	0	0	1	0	6	38					G	13100327	A	G	13100327	2	3	226	1	0	0	0	0	0	0	0	1	3251	291	11	3		3	CEP192	18	13100327	Silent	SNP	A	TCGA-FG-A713-01A-11D-A32B-08		13100327	64976921	34	27815											
MED16	10025	broad.mit.edu	37	chr19	885978	885978	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggccaccacgatgttgCcgccgccggtgaaggcgatg	15	14	0	1	rs137978287		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:885978C>G	ENST00000589119.1	-	4	670	c.671G>C	c.(670-672)gGc>gCc	p.G224A	MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A|MED16_ENST00000312090.6_Missense_Mutation_p.G224A|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	224					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;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)		CACGATGTTGCCGCCGCCGGT	0.701																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(670-672)gGc>gCc		mediator complex subunit 16							34	32	32					19																	885978		2193	4278	6471	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:885978C>G	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.671G>C	19.37:g.885978C>G	ENSP00000464810:p.Gly224Ala					MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.G224A|MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A	p.G224A			Q9Y2X0	MED16_HUMAN		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)	5	821	-		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;9.42e-05)|Hepatocellular(1079;0.137)	224					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.671G>C	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367401	0.82463	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	3.06	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.177235	0.49305	D	0.000142	T	0.50582	0.1624	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.65815	0.99;0.994;0.994;0.995	P;D;P;D	0.64776	0.812;0.913;0.884;0.929	T	0.57154	-0.7860	10	0.59425	D	0.04	-3.2354	13.5876	0.61940	0.0:1.0:0.0:0.0	.	224;224;224;224	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	A	224	ENSP00000325612:G224A;ENSP00000308528:G224A;ENSP00000379153:G224A;ENSP00000269814:G224A	ENSP00000269814:G224A	G	-	2	0	MED16	836978	1.000000	0.71417	0.796000	0.32109	0.934000	0.57294	7.054000	0.76649	1.736000	0.51660	0.462000	0.41574	GGC		0.701	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		10	22	0	0	0	1	0	10	22					G	885978	C	G	885978	3	3	226	1	0	0	0	0	1	0	0	0	9434	739	26	4	2010	4	MED16	19	885978	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		885978	58243005	35	27816											
C19orf29	58509	broad.mit.edu	37	chr19	3613264	3613264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccgtccccgtcgccGtcgccctctgtcggggtcgc	11	21	2	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:3613264G>A	ENST00000429344.2	-	9	1630	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.D458D|CACTIN_ENST00000248420.5_Silent_p.D526D	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	526					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)										CCCCGTCGCCGTCGCCCTCTG	0.761																																						ENST00000429344.2																			0											c.(1576-1578)gaC>gaT		cactin, spliceosome C complex subunit							23	26	25					19																	3613264		2028	4135	6163	SO:0001819	synonymous_variant	58509							g.chr19:3613264G>A	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.1578C>T	19.37:g.3613264G>A						CACTIN_ENST00000248420.5_Silent_p.D526D|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Silent_p.D458D	p.D526D	NM_001080543.1	NP_001074012.1					9	1630	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.1578C>T	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	g	2.240	-0.374002	0.05034	.	.	ENSG00000226800	ENST00000447295	.	.	.	0.891	-1.78	0.07957	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.14448	-1.0472	4	.	.	.	.	0.3647	0.00370	0.2207:0.2303:0.3188:0.2302	.	.	.	.	I	298	.	.	V	+	1	0	C19orf29OS	3564264	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.434000	0.06939	-2.751000	0.00374	-2.715000	0.00133	GTC		0.761	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			6	29	0	0	0	1	0	6	29					A	3613264	G	A	3613264	2	1	226	1	0	0	0	0	0	0	0	1	1918	1136	40	1		1	C19orf29	19	3613264	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	2727286	3613264	55515719	36	27817											
CIC	23152	broad.mit.edu	37	chr19	42791744	42791744	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaatgccttcatgatcttCagcaagcggcaccgggccct	10	13	3	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:42791744C>A	ENST00000575354.2	+	5	670	c.630C>A	c.(628-630)ttC>ttA	p.F210L	CIC_ENST00000160740.3_Missense_Mutation_p.F210L|CIC_ENST00000572681.2_Missense_Mutation_p.F1119L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210					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)				TCATGATCTTCAGCAAGCGGC	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3355-3357)ttC>ttA		capicua transcriptional repressor							65	67	66					19																	42791744		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791744C>A	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.630C>A	19.37:g.42791744C>A	ENSP00000458663:p.Phe210Leu					CIC_ENST00000160740.3_Missense_Mutation_p.F210L|CIC_ENST00000575354.2_Missense_Mutation_p.F210L	p.F1119L			Q96RK0	CIC_HUMAN			6	3425	+		Prostate(69;0.00682)	210			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3357C>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114369	0.37339	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.90123	0.6914	H	0.98738	4.315	0.51767	D	0.999934	D	0.69078	0.997	D	0.77004	0.989	D	0.93807	0.7106	8	0.87932	D	0	-10.7648	14.5138	0.67807	0.0:1.0:0.0:0.0	.	210	Q96RK0	CIC_HUMAN	L	210	.	ENSP00000160740:F210L	F	+	3	2	CIC	47483584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.461000	0.35255	2.284000	0.76573	0.555000	0.69702	TTC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	34	1	0	2.17888e-05	1	2.32744e-05	9	34					A	42791744	C	A	42791744	3	1	226	1	0	0	0	0	1	0	0	0	3424	825	29	4	648	4	CIC	19	42791744	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	39178480	42791744	16337239	37	27818											
ATRX	546	broad.mit.edu	37	chrX	76944310	76944310	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaacagatcattacataCcttacaaataagaacttgca	3	9	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:76944310C>T	ENST00000373344.5	-	7	809		c.e7+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TCATTACATACCTTACAAATA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e7+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						121	111	115					X																	76944310		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76944310C>T	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.594+1G>A	X.37:g.76944310C>T						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			7	809	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358477	0.82243	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2466	0.89988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76830966	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.487000	0.81328	2.247000	0.74100	0.594000	0.82650	.		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	15	65	0	0	0	1	0	15	65					T	76944310	C	T	76944310	5	4	226	1	0	0	0	0	0	0	1	0	1208	521	18	2	6999	2	ATRX	23	76944310	Splice_Site	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		76944310	78326250	38	27819											
SLC25A5	292	broad.mit.edu	37	chrX	118603879	118603879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggcatcgggtggtgccGcaggggccacatccctgtgt	15	12	1	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	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	123					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)	GGGTGGTGCCGCAGGGGCCAC	0.527																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(367-369)Gca>Aca		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						92	92	92					X																	118603879		2203	4300	6503	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118603879G>A	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.367G>A	X.37:g.118603879G>A	ENSP00000360671:p.Ala123Thr					SLC25A5_ENST00000460013.1_3'UTR	p.A123T	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN			2	483	+			123					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.367G>A	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103021	0.76983	.	.	ENSG00000005022	ENST00000317881	D	0.87650	-2.28	4.35	4.35	0.52113	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91561	3.22	0.80722	D	1	D	0.61080	0.989	P	0.51487	0.671	D	0.94308	0.7543	10	0.87932	D	0	.	15.2759	0.73742	0.0:0.0:1.0:0.0	.	123	P05141	ADT2_HUMAN	T	123	ENSP00000360671:A123T	ENSP00000360671:A123T	A	+	1	0	SLC25A5	118487907	1.000000	0.71417	0.505000	0.27651	0.948000	0.59901	9.356000	0.97091	2.100000	0.63781	0.529000	0.55759	GCA		0.527	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		4	165	0	0	0	1	0	4	165					A	118603879	G	A	118603879	3	1	226	1	0	0	0	0	1	0	0	0	14512	1087	38	1	373	1	SLC25A5	23	118603879	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	41659569	118603879	36666681	39	27820											
CT47B1	643311	broad.mit.edu	37	chrX	120008870	120008870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctgcggcctcctccgCgggctccctggccatctcgg	11	19	3	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:120008870C>T	ENST00000371311.3	-	1	909	c.655G>A	c.(655-657)Gcg>Acg	p.A219T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	219										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCTCCTCCGCGGGCTCCCTG	0.692													N|||	4	0.0010596	0.003	0.0	3775	,	,		9901	0.0		0.0	False		,,,				2504	0.0					ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(655-657)Gcg>Acg		cancer/testis antigen family 47, member B1							27	26	27					X																	120008870		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008870C>T		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.655G>A	X.37:g.120008870C>T	ENSP00000360360:p.Ala219Thr						p.A219T	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	909	-			219					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.655G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	5.983	0.365318	0.11352	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.32	-2.63	0.06133	.	.	.	.	.	T	0.23451	0.0567	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.10683	-1.0619	8	0.37606	T	0.19	.	3.1537	0.06497	0.0:0.3964:0.247:0.3566	.	219	P0C2W7	CT47B_HUMAN	T	219	.	ENSP00000360360:A219T	A	-	1	0	CT47B1	119892898	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.390000	0.02528	-1.786000	0.01269	-1.177000	0.01723	GCG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		7	145	0	0	0	1	0	7	145					T	120008870	C	T	120008870	3	4	226	1	0	0	0	0	1	0	0	0	3989	768	27	1	252	1	CT47B1	23	120008870	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	1404991	120008870	35261690	40	27821											
FLNA	2316	broad.mit.edu	37	chrX	153583249	153583249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaagcgcacacagatgaCgtatttgcccggctgggggg	14	11	0	2	rs187497365		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:153583249C>T	ENST00000369850.3	-	31	5397	c.5161G>A	c.(5161-5163)Gtc>Atc	p.V1721I	FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I|FLNA_ENST00000422373.1_Missense_Mutation_p.V1713I|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1721					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)					ACACAGATGACGTATTTGCCC	0.622													.|||	2	0.000529801	0.0	0.0	3775	,	,		13568	0.0		0.002	False		,,,				2504	0.0					ENST00000422373.1																			0				breast(6)	6						c.(5137-5139)Gtc>Atc		filamin A, alpha							41	45	43					X																	153583249		2165	4242	6407	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153583249C>T	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.5161G>A	X.37:g.153583249C>T	ENSP00000358866:p.Val1721Ile					FLNA_ENST00000369850.3_Missense_Mutation_p.V1721I|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I	p.V1713I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			30	5385	-	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)		1721					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5137G>A	CCDS48194.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.972	0.363211	0.11296	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.12	2.32	0.28847	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.163530	0.37623	N	0.002011	T	0.75796	0.3898	N	0.21373	0.66	0.80722	D	1	B;B	0.18166	0.009;0.026	B;B	0.19666	0.026;0.021	T	0.66217	-0.5979	10	0.45353	T	0.12	.	13.4534	0.61184	0.0:0.7895:0.0:0.2105	.	1713;1721	P21333-2;P21333	.;FLNA_HUMAN	I	1713;1694;1713;1721;1713	ENSP00000353467:V1713I;ENSP00000416926:V1713I;ENSP00000358866:V1721I;ENSP00000358863:V1713I	ENSP00000358863:V1713I	V	-	1	0	FLNA	153236443	0.946000	0.32159	0.777000	0.31699	0.248000	0.25809	2.142000	0.42177	0.145000	0.18977	-1.955000	0.00483	GTC		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	48	0	0	0	1	0	3	48					T	153583249	C	T	153583249	3	4	226	1	0	0	0	0	1	0	0	0	5933	536	19	1	2854	1	FLNA	23	153583249	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	33574379	153583249	1687311	41	27822											
CDK11B	984	broad.mit.edu	37	chr1	1573136	1573136	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgctcactctaacggtgacGatgttgggatgctgggcctt	13	9	2	1	rs17434073	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:1573136G>A	ENST00000407249.3	-	14	1460	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	CDK11B_ENST00000317673.7_Silent_p.I485I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000340677.5_Silent_p.I474I			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAACGGTGACGATGTTGGGAT	0.617																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1459-1461)atC>atT		cyclin-dependent kinase 11B							334	296	309					1																	1573136		2114	4211	6325	SO:0001819	synonymous_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1573136G>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"Cyclin-dependent kinases"	1729	protein-coding gene	gene with protein product		176873	"cell division cycle 2-like 1 (PITSLRE proteins)"	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1461C>T	1.37:g.1573136G>A						CDK11B_ENST00000340677.5_Silent_p.I474I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000317673.7_Silent_p.I485I	p.I487I			P21127	CD11B_HUMAN			14	1460	-			497			Protein kinase.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Silent	SNP	ENST00000407249.3	37	c.1461C>T																																																																																					0.617	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		4	186	0	0	0	1	0	4	186					A	1573136	G	A	1573136	2	1	227	1	0	0	0	0	0	0	0	1	3127	1048	37	1		1	CDK11B	1	1573136	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		1573136	247677485	1	27823											
UBR4	23352	broad.mit.edu	37	chr1	19439194	19439194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgacagccgaggcGcagccatagcacttggtgga	14	10	1	1	rs148095267		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:19439194G>A	ENST00000375254.3	-	78	11652	c.11625C>T	c.(11623-11625)tgC>tgT	p.C3875C	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375267.2_Silent_p.C3875C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3875					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)		CAGCCGAGGCGCAGCCATAGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17628	0.0		0.001	False		,,,				2504	0.0					ENST00000375267.2																			0				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						c.(11623-11625)tgC>tgT		ubiquitin protein ligase E3 component n-recognin 4		G		0,4406		0,0,2203	193	185	187		11625	-5.3	0.9	1	dbSNP_134	187	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	UBR4	NM_020765.2		0,9,6494	AA,AG,GG		0.1047,0.0,0.0692		3875/5184	19439194	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19439194G>A	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.11625C>T	1.37:g.19439194G>A						UBR4_ENST00000375254.3_Silent_p.C3875C|UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375218.3_3'UTR	p.C3875C			Q5T4S7	UBR4_HUMAN		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)	78	11628	-		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)	3875					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.11625C>T	CCDS189.1																																																																																				0.612	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	172	0	0	0	1	0	8	172					A	19439194	G	A	19439194	2	1	227	1	0	0	0	0	0	0	0	1	16901	1079	38	1		1	UBR4	1	19439194	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	17866058	19439194	229811427	2	27824											
PDZK1	5174	broad.mit.edu	37	chr1	145761247	145761247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtcaaggaggctccaGctcctactcccacttctctg	8	16	3	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:145761247G>A	ENST00000344770.2	+	7	1133	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	354					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)	p.A354T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGAGGCTCCAGCTCCTACTCC	0.428																																						ENST00000344770.2																			1	Substitution - Missense(1)	p.A354T(1)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7						c.(1060-1062)Gct>Act		PDZ domain containing 1							36	39	38					1																	145761247		1522	3185	4707	SO:0001583	missense	5174				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	g.chr1:145761247G>A	AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1060G>A	1.37:g.145761247G>A	ENSP00000342143:p.Ala354Thr					PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T	p.A354T	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		7	1133	+	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		354					B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	ENST00000344770.2	37	c.1060G>A	CCDS924.1	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566378	0.13560	.	.	ENSG00000174827	ENST00000417171;ENST00000451928;ENST00000344770	T;T;T	0.17854	2.25;2.25;2.25	5.38	5.38	0.77491	PDZ/DHR/GLGF (1);	0.301944	0.24703	U	0.036298	T	0.05547	0.0146	L	0.50333	1.59	0.09310	N	1	B;B	0.30709	0.291;0.018	B;B	0.26202	0.067;0.016	T	0.24799	-1.0150	10	0.13853	T	0.58	-10.7122	10.1183	0.42605	0.0913:0.0:0.9087:0.0	.	243;354	E7EU02;Q5T2W1	.;NHRF3_HUMAN	T	354;243;354	ENSP00000394485:A354T;ENSP00000403422:A243T;ENSP00000342143:A354T	ENSP00000342143:A354T	A	+	1	0	PDZK1	144472604	0.948000	0.32251	0.034000	0.17996	0.256000	0.26092	4.212000	0.58514	2.536000	0.85505	0.585000	0.79938	GCT		0.428	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038502.2	NM_002614		38	43	0	0	0	1	0	38	43					A	145761247	G	A	145761247	3	1	227	1	0	0	0	0	1	0	0	0	11707	971	34	2	1082	2	PDZK1	1	145761247	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	126322053	145761247	103489374	3	27825											
CENPF	1063	broad.mit.edu	37	chr1	214818125	214818125	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgagcctccaggggaagatAaaacccagggctcttcagaa	11	10	2	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:214818125A>T	ENST00000366955.3	+	13	5380	c.5212A>T	c.(5212-5214)Aaa>Taa	p.K1738*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1834					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)		AGGGGAAGATAAAACCCAGGG	0.448																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				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						c.(5212-5214)Aaa>Taa		centromere protein F, 350/400kDa							42	43	43					1																	214818125		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818125A>T	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.5212A>T	1.37:g.214818125A>T	ENSP00000355922:p.Lys1738*						p.K1738*	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5380	+			1834					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.5212A>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	44	10.948013	0.99493	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.04	1.41	0.22369	.	0.581143	0.14373	N	0.323697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4458	0.21875	0.7288:0.132:0.1392:0.0	.	.	.	.	X	1738	.	ENSP00000355922:K1738X	K	+	1	0	CENPF	212884748	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.219000	0.17641	0.073000	0.16731	0.496000	0.49642	AAA		0.448	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		21	32	0	0	0	1	0	21	32					T	214818125	A	T	214818125	4	4	227	1	0	0	0	0	0	1	0	0	3231	363	13	5	5258	5	CENPF	1	214818125	Nonsense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	69056878	214818125	34432496	4	27826											
DISP1	84976	broad.mit.edu	37	chr1	223179138	223179138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtcctatttaatcatTtaatgggggaggctggttgt	11	5	1	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:223179138T>G	ENST00000284476.6	+	8	4563	c.4399T>G	c.(4399-4401)Tta>Gta	p.L1467V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1467					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTTAATCATTTAATGGGGGA	0.433																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4399-4401)Tta>Gta		dispatched homolog 1 (Drosophila)							75	76	76					1																	223179138		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223179138T>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4399T>G	1.37:g.223179138T>G	ENSP00000284476:p.Leu1467Val						p.L1467V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4563	+			1467					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4399T>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439221	0.25900	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.52	-3.0	0.05480	.	1.556380	0.03391	N	0.201937	T	0.77791	0.4183	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64681	-0.6350	10	0.15499	T	0.54	0.0872	1.4606	0.02394	0.222:0.3236:0.1151:0.3393	.	1467	Q96F81	DISP1_HUMAN	V	1467	ENSP00000284476:L1467V	ENSP00000284476:L1467V	L	+	1	2	DISP1	221245761	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	0.006000	0.13152	-0.435000	0.07264	-0.250000	0.11733	TTA		0.433	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		20	40	0	0	0	1	0	20	40					G	223179138	T	G	223179138	3	3	227	1	0	0	0	0	1	0	0	0	4539	1838	64	5	4425	5	DISP1	1	223179138	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	8361013	223179138	26071483	5	27827											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	64	0	0	0	1	0	33	64					T	209113112	C	T	209113112	3	4	227	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		209113112	34086261	6	27828											
CTBP1	1487	broad.mit.edu	37	chr4	1232006	1232008	+	In_Frame_Del	DEL	AGA	AGA	-													ctgcgtggactgcgcgtcgcAgaaggccacagtggccacgt							TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:1232006_1232008delAGA	ENST00000290921.6	-	2	339_341	c.158_160delTCT	c.(157-162)ttctgc>tgc	p.F53del	CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000510568.1_In_Frame_Del_p.F42del|CTBP1_ENST00000382952.3_In_Frame_Del_p.F42del	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	53	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGCGCGTCGCAGAAGGCCACAGT	0.665																																						ENST00000510568.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(124-129)tgc>t		C-terminal binding protein 1																																				SO:0001651	inframe_deletion	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1232006_1232008delAGA	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.158_160delTCT	4.37:g.1232006_1232008delAGA	ENSP00000290921:p.Phe53del					CTBP1_ENST00000290921.6_In_Frame_Del_p.FC53del|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000382952.3_In_Frame_Del_p.FC42del	p.FC42del			Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	2	716_718	-			53			Interaction with GLIS2 1 (By similarity).		Q4W5N3|Q7Z2Q5	In_Frame_Del	DEL	ENST00000290921.6	37	c.125_127delTCT	CCDS3348.1																																																																																				0.665	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		38	61						38	61	---	---	---	---	-	1232008	AGA	-	1232006	7	5	227	1	0	1	0	1	0	0	0	0	3997	188	7	0	1194	0	CTBP1	4	1232006	In_Frame_Del	DEL	AGA	TCGA-FG-A87N-01A-11D-A36O-08		1232006	189922270	7	27829											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280660	73280660	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggttcaatgaaatacTcttcattatcactttttatc	4	9	4	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:73280660T>A	ENST00000286657.4	-	4	569	c.533A>T	c.(532-534)gAg>gTg	p.E178V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	178					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGAAATACTCTTCATTATC	0.353																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(532-534)gAg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							133	133	133					4																	73280660		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280660T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.533A>T	4.37:g.73280660T>A	ENSP00000286657:p.Glu178Val						p.E178V	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	569	-			178					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.533A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195600	0.78902	.	.	ENSG00000156140	ENST00000286657	T	0.07567	3.18	5.15	5.15	0.70609	Peptidase M12B, propeptide (1);	0.000000	0.64402	U	0.000015	T	0.26702	0.0653	M	0.67517	2.055	0.49798	D	0.999823	P	0.47350	0.894	D	0.65684	0.937	T	0.00559	-1.1671	10	0.87932	D	0	.	14.1513	0.65387	0.0:0.0:0.0:1.0	.	178	O15072	ATS3_HUMAN	V	178	ENSP00000286657:E178V	ENSP00000286657:E178V	E	-	2	0	ADAMTS3	73499524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.062000	0.76706	1.930000	0.55929	0.533000	0.62120	GAG		0.353	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			52	74	0	0	0	1	0	52	74					A	73280660	T	A	73280660	3	1	227	1	0	0	0	0	1	0	0	0	267	1551	54	5	3160	5	ADAMTS3	4	73280660	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	72048654	73280660	117873616	8	27830											
KLHL8	57563	broad.mit.edu	37	chr4	88106791	88106791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgagccgtgaagaaTagacaaactttaccaagtct	8	8	2	4	rs201977013		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:88106791T>C	ENST00000273963.5	-	3	718	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	126	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		CCGTGAAGAATAGACAAACTT	0.423																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(376-378)tAt>tGt		kelch-like family member 8							80	79	79					4																	88106791		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88106791T>C	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.377A>G	4.37:g.88106791T>C	ENSP00000273963:p.Tyr126Cys					KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron	p.Y126C	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	3	718	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	126			BTB.		Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.377A>G	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230598	0.79688	.	.	ENSG00000145332	ENST00000273963;ENST00000512111	D;D	0.89343	-2.5;-2.5	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.109040	0.64402	D	0.000004	D	0.96775	0.8947	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98314	1.0525	10	0.87932	D	0	.	16.0555	0.80801	0.0:0.0:0.0:1.0	.	126	Q9P2G9	KLHL8_HUMAN	C	126	ENSP00000273963:Y126C;ENSP00000424131:Y126C	ENSP00000273963:Y126C	Y	-	2	0	KLHL8	88325815	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.989000	0.88205	2.185000	0.69588	0.528000	0.53228	TAT		0.423	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			35	46	0	0	0	1	0	35	46					C	88106791	T	C	88106791	3	2	227	1	0	0	0	0	1	0	0	0	8395	1406	49	3	1517	3	KLHL8	4	88106791	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	14826131	88106791	103047485	9	27831											
TBC1D9	23158	broad.mit.edu	37	chr4	141677078	141677080	+	In_Frame_Del	DEL	CCG	CCG	-													cacggtccttacccgccagtCcgccgccgccgcctccatcg							TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:141677078_141677080delCCG	ENST00000442267.2	-	1	194_196	c.120_122delCGG	c.(118-123)ggcgga>gga	p.40_41GG>G	RP11-102N12.3_ENST00000609937.1_lincRNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	40							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)				ACCCGCCAGTCCGCCGCCGCCGC	0.739																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(118-123)gga>gg		TBC1 domain family, member 9 (with GRAM domain)																																				SO:0001651	inframe_deletion	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141677078_141677080delCCG	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.120_122delCGG	4.37:g.141677087_141677089delCCG	ENSP00000411197:p.Gly41del						p.GG40del	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			1	194_196	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	40					A6H8U8|D3DNZ1|O94958	In_Frame_Del	DEL	ENST00000442267.2	37	c.120_122delCGG	CCDS47136.1																																																																																				0.739	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		3	6						3	6	---	---	---	---	-	141677080	CCG	-	141677078	7	5	227	1	0	1	0	1	0	0	0	0	15624	855	30	0	3762	0	TBC1D9	4	141677078	In_Frame_Del	DEL	CCG	TCGA-FG-A87N-01A-11D-A36O-08	53570287	141677078	49477198	10	27832											
ZNF292	23036	broad.mit.edu	37	chr6	87865403	87865404	+	Frame_Shift_Ins	INS	-	-	T													gggcgagcggctccaggagcINStggagctacagctgcgggag							TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr6:87865403_87865404insT	ENST00000369577.3	+	1	137_138	c.94_95insT	c.(94-96)ctgfs	p.L32fs	ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.L32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.L32fs|RP11-393I2.4_ENST00000606274.1_RNA	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	32						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)		GCTCCAGGAGCTGGAGCTACAG	0.703																																						ENST00000369577.3																			0				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						c.(94-96)ggafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87865403_87865404insT	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.95dupT	6.37:g.87865404_87865404dupT	ENSP00000358590:p.Leu32fs					ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.G32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.G32fs	p.G32fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	1	137_138	+		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)	32					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	ENST00000369577.3	37	c.94_95insT	CCDS47457.1																																																																																				0.703	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		6	5						6	5	---	---	---	---	T	87865404	-	T	87865403	7	5	227	1	0	1	1	0	0	0	0	0	17823	796	28	0	96	0	ZNF292	6	87865403	Frame_Shift_Ins	INS	-	TCGA-FG-A87N-01A-11D-A36O-08		87865403	83249664	11	27833											
PMPCB	9512	broad.mit.edu	37	chr7	102952301	102952301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcaaatgttatgctaTaatagaaggattcccatccc	9	8	0	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr7:102952301T>C	ENST00000249269.4	+	11	1325	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	PMPCB_ENST00000420236.2_Silent_p.Y324Y|PMPCB_ENST00000428154.1_Silent_p.Y429Y	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	429					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTATGCTATAATAGAAGGA	0.343																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1285-1287)taT>taC		peptidase (mitochondrial processing) beta							84	86	85					7																	102952301		2203	4300	6503	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102952301T>C	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.1287T>C	7.37:g.102952301T>C						PMPCB_ENST00000420236.2_Silent_p.Y324Y|PMPCB_ENST00000428154.1_Silent_p.Y429Y	p.Y429Y	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			11	1325	+			429					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.1287T>C	CCDS5730.1																																																																																				0.343	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		5	47	0	0	0	1	0	5	47					C	102952301	T	C	102952301	2	2	227	1	0	0	0	0	0	0	0	1	12141	1413	49	3		3	PMPCB	7	102952301	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08		102952301	56186362	12	27834											
UTP23	84294	broad.mit.edu	37	chr8	117778967	117778967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcggcgctgcggggccGcatccagctgcgggagcagc	18	14	1	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:117778967G>A	ENST00000309822.2	+	1	226	c.125G>A	c.(124-126)cGc>cAc	p.R42H	UTP23_ENST00000517820.1_Missense_Mutation_p.R42H|UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|EIF3H_ENST00000276682.4_5'Flank	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	42					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTGCGGGGCCGCATCCAGCTG	0.677											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(124-126)cGc>cAc		UTP23, small subunit (SSU) processome component, homolog (yeast)							15	15	15					8																	117778967		2198	4293	6491	SO:0001583	missense	84294				rRNA processing	nucleolus		g.chr8:117778967G>A		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.125G>A	8.37:g.117778967G>A	ENSP00000308332:p.Arg42His		OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1483	UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|UTP23_ENST00000517820.1_Missense_Mutation_p.R42H	p.R42H	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			1	226	+			42					B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	c.125G>A	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989921	0.74589	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814;ENST00000517820	T	0.23147	1.92	5.45	5.45	0.79879	.	0.051630	0.64402	D	0.000001	T	0.19565	0.0470	L	0.39245	1.2	0.80722	D	1	B	0.20052	0.041	B	0.09377	0.004	T	0.07443	-1.0772	10	0.72032	D	0.01	-7.4053	6.5682	0.22523	0.2031:0.0:0.7969:0.0	.	42	Q9BRU9	UTP23_HUMAN	H	42	ENSP00000308332:R42H	ENSP00000308332:R42H	R	+	2	0	UTP23	117848148	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.623000	0.74238	2.833000	0.97629	0.585000	0.79938	CGC		0.677	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		3	21	0	0	0	1	0	3	21					A	117778967	G	A	117778967	3	1	227	1	0	0	0	0	1	0	0	0	17097	1087	38	1	127	1	UTP23	8	117778967	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		117778967	28585055	13	27835											
CPSF1	29894	broad.mit.edu	37	chr8	145626338	145626338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacccacgagcccctcGtgctcctcagccaggctctc	7	22	3	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:145626338G>A	ENST00000349769.3	-	6	613	c.519C>T	c.(517-519)caC>caT	p.H173H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	173					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)			CGAGCCCCTCGTGCTCCTCAG	0.721																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				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						c.(517-519)caC>caT		cleavage and polyadenylation specific factor 1, 160kDa							26	28	27					8																	145626338		2202	4300	6502	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626338G>A	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.519C>T	8.37:g.145626338G>A							p.H173H	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	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)		6	613	-	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)		173					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.519C>T	CCDS34966.1																																																																																				0.721	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		9	13	0	0	0	1	0	9	13					A	145626338	G	A	145626338	2	1	227	1	0	0	0	0	0	0	0	1	3824	1136	40	1		1	CPSF1	8	145626338	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	27847371	145626338	737684	14	27836											
VAV2	7410	broad.mit.edu	37	chr9	136648690	136648691	+	Frame_Shift_Ins	INS	-	-	TG													gacgccacacttggtacacaINStgtatccctggtagaaggtg					rs202226819		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr9:136648690_136648691insTG	ENST00000371850.3	-	19	1688_1689	c.1657_1658insCA	c.(1657-1659)atgfs	p.M553fs	VAV2_ENST00000371851.1_Frame_Shift_Ins_p.M543fs|VAV2_ENST00000406606.3_Frame_Shift_Ins_p.M543fs	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	553					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTGGTACACATGTATCCCTGG	0.629																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1627-1629)gtgfs		vav 2 guanine nucleotide exchange factor																																				SO:0001589	frameshift_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136648690_136648691insTG		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1656_1657dupCA	9.37:g.136648691_136648692dupTG	ENSP00000360916:p.Met553fs					VAV2_ENST00000406606.3_Frame_Shift_Ins_p.V543fs|VAV2_ENST00000371850.3_Frame_Shift_Ins_p.V553fs	p.V543fs			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	17	1952_1953	-			553					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Frame_Shift_Ins	INS	ENST00000371850.3	37	c.1627_1628insCA	CCDS48053.1																																																																																				0.629	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			11	43						11	43	---	---	---	---	TG	136648691	-	TG	136648690	7	5	227	1	0	1	1	0	0	0	0	0	17129	217	8	0	1026	0	VAV2	9	136648690	Frame_Shift_Ins	INS	-	TCGA-FG-A87N-01A-11D-A36O-08		136648690	4564741	15	27837											
BEND7	222389	broad.mit.edu	37	chr10	13534788	13534788	+	Frame_Shift_Del	DEL	T	T	-													tccacagtctttgggggcacTtttttctttttatttctctt							TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:13534788delT	ENST00000396900.2	-	5	659	c.660delA	c.(658-660)aaafs	p.K220fs	BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs|BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000341083.3_Frame_Shift_Del_p.K168fs			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	220	Poly-Lys.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGGGGGCACTTTTTTCTTTT	0.458																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(502-504)aafs		BEN domain containing 7							77	81	80					10																	13534788		2203	4300	6503	SO:0001589	frameshift_variant	222389						protein binding	g.chr10:13534788delT	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.660delA	10.37:g.13534788delT	ENSP00000380108:p.Lys220fs					BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000396900.2_Frame_Shift_Del_p.K220fs|BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs	p.K168fs	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			5	800	-			220					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Frame_Shift_Del	DEL	ENST00000396900.2	37	c.504delA																																																																																					0.458	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		51	75						51	75	---	---	---	---	-	13534788	T	-	13534788	7	5	227	1	0	1	0	1	0	0	0	0	1403	1606	56	0	934	0	BEND7	10	13534788	Frame_Shift_Del	DEL	T	TCGA-FG-A87N-01A-11D-A36O-08		13534788	121999959	16	27838											
NEBL	10529	broad.mit.edu	37	chr10	21098829	21098829	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccaaactttgaggtcTtttgccaaaaggaagaaatc	10	8	1	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:21098829T>C	ENST00000377122.4	-	25	2915		c.e25-2		NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTGAGGTCTTTTGCCAAAA	0.393																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.e25-2		nebulette							76	76	76					10																	21098829		2203	4300	6503	SO:0001630	splice_region_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21098829T>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2519-2A>G	10.37:g.21098829T>C						NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron		NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			25	2915	-								B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Splice_Site	SNP	ENST00000377122.4	37		CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798411	0.70567	.	.	ENSG00000078114	ENST00000377122	.	.	.	6.05	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0597	0.36427	0.0:0.0649:0.1258:0.8092	.	.	.	.	.	-1	.	.	.	-	.	.	NEBL	21138835	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.417000	0.80156	0.473000	0.27368	0.528000	0.53228	.		0.393	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	Intron	18	32	0	0	0	1	0	18	32					C	21098829	T	C	21098829	5	2	227	1	0	0	0	0	0	0	1	0	10303	1623	56	3	543	3	NEBL	10	21098829	Splice_Site	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	7564041	21098829	114435918	17	27839											
ZNF485	220992	broad.mit.edu	37	chr10	44112341	44112341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctttcagggataattcaActgtgttggaacatcagaaa	10	6	3	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:44112341A>G	ENST00000361807.3	+	5	1044	c.850A>G	c.(850-852)Act>Gct	p.T284A	ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A|ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	284					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGATAATTCAACTGTGTTGGA	0.403																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(850-852)Act>Gct		zinc finger protein 485							80	86	84					10																	44112341		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112341A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.850A>G	10.37:g.44112341A>G	ENSP00000354694:p.Thr284Ala					ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A	p.T284A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	1044	+			284					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.850A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	0.927	-0.714082	0.03206	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07216	3.21;3.21;3.21	2.19	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	N	0.21545	0.675	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.46233	-0.9206	9	0.17832	T	0.49	.	4.8524	0.13543	0.8077:0.0:0.1923:0.0	.	284	Q8NCK3	ZN485_HUMAN	A	284;193;284	ENSP00000354694:T284A;ENSP00000363560:T193A;ENSP00000363558:T284A	ENSP00000354694:T284A	T	+	1	0	ZNF485	43432347	0.000000	0.05858	0.151000	0.22473	0.933000	0.57130	-1.241000	0.02911	0.291000	0.22468	0.260000	0.18958	ACT		0.403	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		22	37	0	0	0	1	0	22	37					G	44112341	A	G	44112341	3	3	227	1	0	0	0	0	1	0	0	0	17935	43	2	3	864	3	ZNF485	10	44112341	Missense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	23013512	44112341	91422406	18	27840											
TDRD1	56165	broad.mit.edu	37	chr10	115964540	115964540	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaattggagcagtgattgTatcaaagctactaaaccact	10	7	1	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:115964540T>C	ENST00000369280.1	+	10	1645	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000251864.2_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	395					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)		GCAGTGATTGTATCAAAGCTA	0.398																																						ENST00000251864.2																			0				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						c.(1183-1185)tgT>tgC		tudor domain containing 1							102	92	96					10																	115964540		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115964540T>C	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.1185T>C	10.37:g.115964540T>C						TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000369280.1_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C	p.C395C	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	10	1338	+		Colorectal(252;0.172)|Breast(234;0.188)	395					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.1185T>C																																																																																					0.398	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			25	10	0	0	0	1	0	25	10					C	115964540	T	C	115964540	2	2	227	1	0	0	0	0	0	0	0	1	15727	1644	57	3		3	TDRD1	10	115964540	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	71852199	115964540	19570207	19	27841											
FAM160A2	84067	broad.mit.edu	37	chr11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaaggaccaattgtgCcgcctgccgggccctggttg	15	12	0	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr11:6233023C>T	ENST00000449352.2	-	12	2895	c.2632G>A	c.(2632-2634)Gca>Aca	p.A878T	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Missense_Mutation_p.A892T			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627																																						ENST00000265978.4																			1	Substitution - Missense(1)	p.A892T(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2674-2676)Gca>Aca		family with sequence similarity 160, member A2							77	88	84					11																	6233023		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6233023C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2632G>A	11.37:g.6233023C>T	ENSP00000416918:p.Ala878Thr					FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T|FAM160A2_ENST00000529360.1_5'UTR	p.A892T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			12	3032	-			878					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2674G>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699408	0.48307	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.09255	3.0;3.0	5.29	4.38	0.52667	.	0.114837	0.64402	N	0.000019	T	0.12347	0.0300	L	0.53249	1.67	0.80722	D	1	B;B	0.24768	0.111;0.001	B;B	0.30716	0.119;0.008	T	0.05886	-1.0858	10	0.13470	T	0.59	3.2753	12.4312	0.55575	0.0:0.918:0.0:0.082	.	878;892	Q8N612;Q8N612-2	F16A2_HUMAN;.	T	878;892	ENSP00000416918:A878T;ENSP00000265978:A892T	ENSP00000265978:A892T	A	-	1	0	FAM160A2	6189599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.423000	0.66458	1.229000	0.43630	0.650000	0.86243	GCA		0.627	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		4	151	0	0	0	1	0	4	151					T	6233023	C	T	6233023	3	4	227	1	0	0	0	0	1	0	0	0	5469	739	26	2	290	2	FAM160A2	11	6233023	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		6233023	128773493	20	27842											
FKBP4	2288	broad.mit.edu	37	chr12	2909744	2909744	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgaaagctgtaacaagGtgaggccccctcagaggtca	11	11	2	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:2909744G>A	ENST00000001008.4	+	8	1219		c.e8+1		RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa						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)			CTGTAACAAGGTGAGGCCCCC	0.547																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.e8+1		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						35	32	33					12																	2909744		2203	4300	6503	SO:0001630	splice_region_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2909744G>A	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.1032+1G>A	12.37:g.2909744G>A						RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA		NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		8	1219	+								D3DUQ1|Q9UCP1|Q9UCV7	Splice_Site	SNP	ENST00000001008.4	37		CCDS8512.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233692	0.79688	.	.	ENSG00000004478	ENST00000001008	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6606	0.88192	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FKBP4	2780005	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.314000	0.96306	2.493000	0.84123	0.561000	0.74099	.		0.547	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		Intron	29	31	0	0	0	1	0	29	31					A	2909744	G	A	2909744	5	1	227	1	0	0	0	0	0	0	1	0	5910	1275	44	2	1063	2	FKBP4	12	2909744	Splice_Site	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		2909744	130942151	21	27843											
HELB	92797	broad.mit.edu	37	chr12	66703572	66703572	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctccagctgatgacTgatttggagaagaatgcatt	9	8	2	5			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:66703572T>A	ENST00000247815.4	+	4	923	c.864T>A	c.(862-864)acT>acA	p.T288T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	288					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCTGATGACTGATTTGGAGA	0.383																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(862-864)acT>acA		helicase (DNA) B							160	156	157					12																	66703572		2203	4300	6503	SO:0001819	synonymous_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703572T>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.864T>A	12.37:g.66703572T>A							p.T288T	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	923	+			288					A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	c.864T>A	CCDS8976.1																																																																																				0.383	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			49	61	0	0	0	1	0	49	61					A	66703572	T	A	66703572	2	1	227	1	0	0	0	0	0	0	0	1	7045	1567	55	5		5	HELB	12	66703572	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	63793828	66703572	67148323	22	27844											
LRCH1	23143	broad.mit.edu	37	chr13	47266679	47266679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatctttttagccttctgaCgaagacactgttagcctcaa	7	10	3	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr13:47266679C>T	ENST00000389798.3	+	8	1220	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	LRCH1_ENST00000389797.3_Silent_p.D341D|LRCH1_ENST00000311191.6_Silent_p.D341D	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	341										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCCTTCTGACGAAGACACTG	0.413																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1021-1023)gaC>gaT		leucine-rich repeats and calponin homology (CH) domain containing 1							161	131	141					13																	47266679		2203	4300	6503	SO:0001819	synonymous_variant	23143							g.chr13:47266679C>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1023C>T	13.37:g.47266679C>T						LRCH1_ENST00000389797.3_Silent_p.D341D|LRCH1_ENST00000389798.3_Silent_p.D341D	p.D341D	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1252	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	341					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	ENST00000389798.3	37	c.1023C>T	CCDS31972.1																																																																																				0.413	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		64	81	0	0	0	1	0	64	81					T	47266679	C	T	47266679	2	4	227	1	0	0	0	0	0	0	0	1	8932	535	19	1		1	LRCH1	13	47266679	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		47266679	67903199	23	27845											
SCFD1	23256	broad.mit.edu	37	chr14	31091567	31091569	+	In_Frame_Del	DEL	CAG	CAG	-													ggcggcggcggcggcagcgaCagcagcagcagcagccagta					rs535387543		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:31091567_31091569delCAG	ENST00000458591.2	+	1	250_252	c.23_25delCAG	c.(22-27)acagca>aca	p.A13del	SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000544052.2_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	13	Poly-Ala.				post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		gcggcagcgacagcagcagcagc	0.645																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(22-27)aca>a		sec1 family domain containing 1			,	103,19,3358		7,0,89,1,17,1626					,		0			33	6,57,6801		1,0,4,1,55,3371	no	utr-5,codingComplex	SCFD1	NM_182835.1,NM_016106.2	,	8,0,93,2,72,4997	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9178,3.5057,1.7885	,	,		109,76,10159				SO:0001651	inframe_deletion	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31091567_31091569delCAG	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.23_25delCAG	14.37:g.31091576_31091578delCAG	ENSP00000390783:p.Ala13del					SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_5'UTR	p.TA8del	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	1	250_252	+	Hepatocellular(127;0.0877)		8			Poly-Ala.		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	In_Frame_Del	DEL	ENST00000458591.2	37	c.23_25delCAG	CCDS9639.1																																																																																				0.645	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		2	4						2	4	---	---	---	---	-	31091569	CAG	-	31091567	7	5	227	1	0	1	0	1	0	0	0	0	13889	478	17	0	25	0	SCFD1	14	31091567	In_Frame_Del	DEL	CAG	TCGA-FG-A87N-01A-11D-A36O-08		31091567	76257973	24	27846											
FRMD6	122786	broad.mit.edu	37	chr14	52188776	52188776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggacatgctcatgtcGcggaagctgaatggacactc	12	10	1	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:52188776G>A	ENST00000344768.5	+	12	1666	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	FRMD6_ENST00000356218.4_Silent_p.S482S|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000395718.2_Silent_p.S482S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000553556.1_Silent_p.S132S			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	490					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGCTCATGTCGCGGAAGCTGA	0.483																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1444-1446)tcG>tcA		FERM domain containing 6							100	95	96					14																	52188776		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188776G>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1470G>A	14.37:g.52188776G>A						FRMD6_ENST00000553556.1_Silent_p.S132S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000344768.5_Silent_p.S490S|FRMD6_ENST00000356218.4_Silent_p.S482S	p.S482S	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1731	+	all_epithelial(31;0.0163)|Breast(41;0.089)		490					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1446G>A	CCDS58318.1																																																																																				0.483	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		41	35	0	0	0	1	0	41	35					A	52188776	G	A	52188776	2	1	227	1	0	0	0	0	0	0	0	1	6054	1074	38	1		1	FRMD6	14	52188776	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	21097209	52188776	55160764	25	27847											
TTLL5	23093	broad.mit.edu	37	chr14	76259309	76259309	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatagccaaaacacaaaaaGagggagaagatgcttcttta	9	6	1	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:76259309G>A	ENST00000298832.9	+	27	3242	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1013					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)		AACACAAAAAGAGGGAGAAGA	0.413																																						ENST00000298832.9																			0				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						c.(3037-3039)Gag>Aag		tubulin tyrosine ligase-like family, member 5							92	80	84					14																	76259309		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76259309G>A	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.3037G>A	14.37:g.76259309G>A	ENSP00000298832:p.Glu1013Lys					TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K|TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K	p.E1013K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	27	3242	+			1013					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3037G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884211	0.72410	.	.	ENSG00000119685	ENST00000418433;ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.28454	3.56;3.84;1.61;1.62	5.68	5.68	0.88126	.	0.665828	0.16197	N	0.225125	T	0.32102	0.0818	L	0.29908	0.895	0.35393	D	0.790915	P;P;P;P	0.49559	0.688;0.925;0.804;0.561	B;P;B;B	0.47162	0.371;0.54;0.386;0.204	T	0.23048	-1.0199	10	0.32370	T	0.25	.	17.5718	0.87936	0.0:0.0:1.0:0.0	.	1028;87;564;1013	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	K	700;87;1028;1013;564;564;522	ENSP00000450713:E1028K;ENSP00000298832:E1013K;ENSP00000452524:E564K;ENSP00000451946:E522K	ENSP00000286653:E87K	E	+	1	0	TTLL5	75329062	1.000000	0.71417	0.963000	0.40424	0.789000	0.44602	5.867000	0.69597	2.687000	0.91594	0.563000	0.77884	GAG		0.413	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		22	28	0	0	0	1	0	22	28					A	76259309	G	A	76259309	3	1	227	1	0	0	0	0	1	0	0	0	16727	943	33	2	3139	2	TTLL5	14	76259309	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	24070533	76259309	31090231	26	27848											
AAGAB	79719	broad.mit.edu	37	chr15	67529108	67529108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagggataaaatctcaCagcatcattggaagtcactt	9	9	3	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr15:67529108C>T	ENST00000261880.5	-	2	228	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	AAGAB_ENST00000561452.1_De_novo_Start_InFrame|AAGAB_ENST00000542650.1_De_novo_Start_InFrame	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	42					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TAAAATCTCACAGCATCATTG	0.343																																						ENST00000261880.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(124-126)Gtg>Atg		alpha- and gamma-adaptin binding protein							96	87	90					15																	67529108		1863	4096	5959	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67529108C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.124G>A	15.37:g.67529108C>T	ENSP00000261880:p.Val42Met					AAGAB_ENST00000542650.1_De_novo_Start_InFrame|AAGAB_ENST00000561452.1_De_novo_Start_InFrame	p.V42M	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN			2	228	-			42					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.124G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707028	0.89018	.	.	ENSG00000103591	ENST00000261880	D	0.81499	-1.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	L	0.59912	1.85	0.80722	D	1	D	0.62365	0.991	P	0.59643	0.861	D	0.86710	0.1935	10	0.54805	T	0.06	-19.6985	19.884	0.96908	0.0:1.0:0.0:0.0	.	42	Q6PD74	AAGAB_HUMAN	M	42	ENSP00000261880:V42M	ENSP00000261880:V42M	V	-	1	0	AAGAB	65316162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.850000	0.75420	2.782000	0.95742	0.655000	0.94253	GTG		0.343	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		15	30	0	0	0	1	0	15	30					T	67529108	C	T	67529108	3	4	227	1	0	0	0	0	1	0	0	0	15	478	17	2	859	2	AAGAB	15	67529108	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		67529108	35002284	27	27849											
CDR2	1039	broad.mit.edu	37	chr16	22361098	22361098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagttcccttgctgtgaCgtctaattgttcataaacct	6	11	2	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:22361098C>T	ENST00000268383.2	-	3	572	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	89						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTTGCTGTGACGTCTAATTGT	0.423																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(265-267)Gtc>Atc		cerebellar degeneration-related protein 2, 62kDa							195	170	179					16																	22361098		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22361098C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.265G>A	16.37:g.22361098C>T	ENSP00000268383:p.Val89Ile						p.V89I	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	3	572	-			89					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.265G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718728	0.30503	.	.	ENSG00000140743	ENST00000268383	T	0.29917	1.55	5.95	-0.41	0.12374	.	0.609667	0.17898	N	0.158294	T	0.20536	0.0494	L	0.35542	1.07	0.31264	N	0.692601	B	0.15719	0.014	B	0.12156	0.007	T	0.14755	-1.0461	10	0.36615	T	0.2	-10.1694	10.032	0.42107	0.0:0.5447:0.0:0.4553	.	89	Q01850	CDR2_HUMAN	I	89	ENSP00000268383:V89I	ENSP00000268383:V89I	V	-	1	0	CDR2	22268599	0.978000	0.34361	0.151000	0.22473	0.879000	0.50718	0.395000	0.20850	-0.052000	0.13311	-0.136000	0.14681	GTC		0.423	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			17	219	0	0	0	1	0	17	219					T	22361098	C	T	22361098	3	4	227	1	0	0	0	0	1	0	0	0	3172	536	19	1	1111	1	CDR2	16	22361098	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		22361098	67993655	28	27850											
MT4	84560	broad.mit.edu	37	chr16	56602775	56602775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtccctgctgccccccGggctgtgccaaatgtgcccg	12	17	0	0	rs202143391		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:56602775G>A	ENST00000219162.3	+	3	200	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	40					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						GCTGCCCCCCGGGCTGTGCCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17924	0.0		0.001	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(118-120)ccG>ccA		metallothionein 4							109	119	116					16																	56602775		2192	4298	6490	SO:0001819	synonymous_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602775G>A	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"Metallothioneins"	18705	protein-coding gene	gene with protein product		606206	"metallothionein IV"			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.120G>A	16.37:g.56602775G>A							p.P40P	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	200	+			40					Q14DA1	Silent	SNP	ENST00000219162.3	37	c.120G>A	CCDS42165.1																																																																																				0.607	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		104	134	0	0	0	1	0	104	134					A	56602775	G	A	56602775	2	1	227	1	0	0	0	0	0	0	0	1	9907	1103	39	1		1	MT4	16	56602775	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	34241677	56602775	33751978	29	27851											
KIFC3	3801	broad.mit.edu	37	chr16	57798074	57798074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatcgtgtacgtcttgCcggcgcccgtctggccgtac	11	17	2	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:57798074C>T	ENST00000379655.4	-	12	1855	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	533	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTACGTCTTGCCGGCGCCCGT	0.597																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1597-1599)gGc>gAc		kinesin family member C3							74	65	68					16																	57798074		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57798074C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1598G>A	16.37:g.57798074C>T	ENSP00000368976:p.Gly533Asp					KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D	p.G533D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			12	1855	-		all_neural(199;0.224)	533			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1598G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	c	16.33	3.092787	0.56075	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.02	4.07	0.47477	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.96852	0.8972	H	0.99545	4.62	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97106	0.9801	10	0.87932	D	0	.	12.0794	0.53662	0.0:0.9164:0.0:0.0836	.	555;475;391;431;238;533;394	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	D	533;533;394;555;431;391;475	ENSP00000368976:G533D;ENSP00000401696:G533D;ENSP00000396399:G394D;ENSP00000442008:G555D;ENSP00000438805:G431D;ENSP00000444012:G391D;ENSP00000444884:G475D	ENSP00000368976:G533D	G	-	2	0	KIFC3	56355575	1.000000	0.71417	0.995000	0.50966	0.035000	0.12851	7.781000	0.85668	1.121000	0.41925	0.552000	0.68991	GGC		0.597	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		3	49	0	0	0	1	0	3	49					T	57798074	C	T	57798074	3	4	227	1	0	0	0	0	1	0	0	0	8314	739	26	2	944	2	KIFC3	16	57798074	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	1195299	57798074	32556679	30	27852											
PRPF8	10594	broad.mit.edu	37	chr17	1582120	1582120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccagcttagtcaaaCgcagaacttcccgacacagg	7	16	1	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:1582120C>T	ENST00000572621.1	-	11	1920	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	552					gene expression (GO:0010467)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTAGTCAAACGCAGAACTTC	0.493																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1654-1656)cGt>cAt		pre-mRNA processing factor 8							75	67	70					17																	1582120		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582120C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1655G>A	17.37:g.1582120C>T	ENSP00000460348:p.Arg552His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H	p.R552H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	11	1920	-			552					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1655G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424258	0.96111	.	.	ENSG00000174231	ENST00000304992	D	0.82619	-1.63	6.07	6.07	0.98685	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.94385	3.53	0.80722	D	1	P	0.42375	0.778	P	0.45406	0.479	D	0.92221	0.5784	10	0.72032	D	0.01	-7.679	20.6439	0.99570	0.0:1.0:0.0:0.0	.	552	Q6P2Q9	PRP8_HUMAN	H	552	ENSP00000304350:R552H	ENSP00000304350:R552H	R	-	2	0	PRPF8	1528870	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.703000	0.84585	2.890000	0.99128	0.650000	0.86243	CGT		0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			23	30	0	0	0	1	0	23	30					T	1582120	C	T	1582120	3	4	227	1	0	0	0	0	1	0	0	0	12575	536	19	1	5480	1	PRPF8	17	1582120	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		1582120	79613090	31	27853											
NCOR1	9611	broad.mit.edu	37	chr17	15971338	15971338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcacgacagggtccacCccaggcactggagacttcgc	12	15	1	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:15971338C>T	ENST00000268712.3	-	32	4868	c.4611G>A	c.(4609-4611)ggG>ggA	p.G1537G	NCOR1_ENST00000395851.1_Silent_p.G1553G|NCOR1_ENST00000395857.3_Silent_p.G121G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1537	Interaction with C1D. {ECO:0000250}.|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)		CAGGGTCCACCCCAGGCACTG	0.542																																						ENST00000268712.3																			0				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						c.(4609-4611)ggG>ggA		nuclear receptor corepressor 1							89	79	83					17																	15971338		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971338C>T	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.4611G>A	17.37:g.15971338C>T						NCOR1_ENST00000395857.3_Silent_p.G121G|NCOR1_ENST00000395851.1_Silent_p.G1553G	p.G1537G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4868	-			1537			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.4611G>A	CCDS11175.1																																																																																				0.542	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		22	36	0	0	0	1	0	22	36					T	15971338	C	T	15971338	2	4	227	1	0	0	0	0	0	0	0	1	10235	610	22	2		2	NCOR1	17	15971338	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	14389218	15971338	65223872	32	27854											
NF1	4763	broad.mit.edu	37	chr17	29654516	29654516	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcaccaccactttccaGgttggttctactgctgtcca	7	16	2	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:29654516G>C	ENST00000358273.4	+	38	5651		c.e38-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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.?(3)	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)		CCACTTTCCAGGTTGGTTCTA	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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.e38-1		neurofibromin 1							36	33	34					17																	29654516		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654516G>C		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.5269-1G>C	17.37:g.29654516G>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	38	5651	+		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)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569541	0.86439	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5155	0.95162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26678642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.434000	0.97515	2.846000	0.97976	0.644000	0.83932	.		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	44	2	0	0	0	1	0	44	2					C	29654516	G	C	29654516	5	2	227	1	0	0	0	0	0	0	1	0	10356	1014	35	4	5479	4	NF1	17	29654516	Splice_Site	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	13683178	29654516	51540694	33	27855											
SAP30BP	29115	broad.mit.edu	37	chr17	73695883	73695883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccttttctgaaagagttCggaacatgtcgcctgatgaa	9	10	1	4			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:73695883C>T	ENST00000584667.1	+	5	585	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAAAGAGTTCGGAACATGTC	0.453																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(328-330)Cgg>Tgg		SAP30 binding protein							122	134	130					17																	73695883		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695883C>T	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.328C>T	17.37:g.73695883C>T	ENSP00000462116:p.Arg110Trp					SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W	p.R110W	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	585	+	all_cancers(13;6.42e-08)		110						Missense_Mutation	SNP	ENST00000584667.1	37	c.328C>T	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138735	0.56936	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.59436	1.845	0.80722	D	1	B;P	0.42908	0.01;0.793	B;B	0.31547	0.007;0.132	T	0.60642	-0.7223	9	0.62326	D	0.03	-12.5811	15.4254	0.75045	0.3276:0.6724:0.0:0.0	.	94;110	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	W	110;110;94	.	ENSP00000293208:R94W	R	+	1	2	SAP30BP	71207478	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.939000	0.40213	1.329000	0.45376	0.655000	0.94253	CGG		0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		59	86	0	0	0	1	0	59	86					T	73695883	C	T	73695883	3	4	227	1	0	0	0	0	1	0	0	0	13834	875	31	1	346	1	SAP30BP	17	73695883	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	44041367	73695883	7499327	34	27856											
SYT4	6860	broad.mit.edu	37	chr18	40850545	40850545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgcattgggggtgcattTcttcacatgagtcttcttct	9	10	5	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr18:40850545T>C	ENST00000255224.3	-	4	1407	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	347	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGGTGCATTTCTTCACATGA	0.408																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1039-1041)Aaa>Gaa		synaptotagmin IV							104	106	105					18																	40850545		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850545T>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1039A>G	18.37:g.40850545T>C	ENSP00000255224:p.Lys347Glu					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	p.K347E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			4	1407	-			347			C2 2.		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1039A>G	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258531	0.80246	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.70749	-0.51	5.58	5.58	0.84498	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	T	0.78566	0.4303	M	0.75085	2.285	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	T	0.82108	-0.0620	10	0.87932	D	0	.	15.7524	0.77997	0.0:0.0:0.0:1.0	.	329;347	B4DEU3;Q9H2B2	.;SYT4_HUMAN	E	347;152	ENSP00000255224:K347E	ENSP00000255224:K347E	K	-	1	0	SYT4	39104543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.136000	0.66102	0.533000	0.62120	AAA		0.408	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		56	60	0	0	0	1	0	56	60					C	40850545	T	C	40850545	3	2	227	1	0	0	0	0	1	0	0	0	15473	1792	62	3	242	3	SYT4	18	40850545	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08		40850545	37226703	35	27857											
ZNF560	147741	broad.mit.edu	37	chr19	9578508	9578508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatttataaggttttatcCcaatgtgggtttgcatgtga	9	5	0	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:9578508C>T	ENST00000301480.4	-	10	1328	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	372					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGGTTTTATCCCAATGTGGGT	0.403																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1114-1116)gGg>gAg		zinc finger protein 560							172	174	174					19																	9578508		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578508C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1115G>A	19.37:g.9578508C>T	ENSP00000301480:p.Gly372Glu						p.G372E	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1328	-			372					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1115G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685279	0.47991	.	.	ENSG00000198028	ENST00000301480	T	0.25749	1.78	2.02	-1.85	0.07784	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33000	0.0848	L	0.37466	1.105	0.29060	N	0.883982	D	0.89917	1.0	D	0.91635	0.999	T	0.27434	-1.0074	9	0.59425	D	0.04	.	5.2363	0.15448	0.3417:0.465:0.1933:0.0	.	372	Q96MR9	ZN560_HUMAN	E	372	ENSP00000301480:G372E	ENSP00000301480:G372E	G	-	2	0	ZNF560	9439508	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.694000	0.25512	-0.298000	0.08921	0.491000	0.48974	GGG		0.403	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		48	54	0	0	0	1	0	48	54					T	9578508	C	T	9578508	3	4	227	1	0	0	0	0	1	0	0	0	17988	623	22	2	1261	2	ZNF560	19	9578508	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		9578508	49550475	36	27858											
BLVRB	645	broad.mit.edu	37	chr19	40953796	40953796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagatggggacagagtgCtactggtactggtgggaggg	18	7	0	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:40953796C>T	ENST00000263368.4	-	5	772	c.621G>A	c.(619-621)taG>taA	p.*207*	BLVRB_ENST00000595483.1_Silent_p.*164*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	0					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GGACAGAGTGCTACTGGTACT	0.537																																						ENST00000263368.4																			0				large_intestine(3)|lung(3)	6						c.(619-621)taG>taA		biliverdin reductase B (flavin reductase (NADPH))	NADH(DB00157)|Riboflavin(DB00140)						140	116	124					19																	40953796		2203	4300	6503	SO:0001819	synonymous_variant	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40953796C>T	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"Short chain dehydrogenase/reductase superfamily / Atypical members"	1063	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 43U, member 1"	600941	"Flavin reductase"	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.621G>A	19.37:g.40953796C>T						BLVRB_ENST00000595483.1_Silent_p.*164*	p.*207*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	772	-			0					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Silent	SNP	ENST00000263368.4	37	c.621G>A	CCDS33029.1																																																																																				0.537	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			15	52	0	0	0	1	0	15	52					T	40953796	C	T	40953796	2	4	227	1	0	0	0	0	0	0	0	1	1452	808	28	2		2	BLVRB	19	40953796	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	31375288	40953796	18175187	37	27859											
ZNF446	55663	broad.mit.edu	37	chr19	58991096	58991096	+	Splice_Site	DEL	T	T	-													ggcacagtggtctccctgggTgaggaccagccagccccacc							TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:58991096delT	ENST00000594369.1	+	5	1093		c.e5+2		ZNF446_ENST00000596341.1_Splice_Site|ZNF446_ENST00000335841.4_Intron	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCTCCCTGGGTGAGGACCAGC	0.677																																						ENST00000596341.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.e5+2		zinc finger protein 446							66	61	63					19																	58991096		2203	4300	6503	SO:0001630	splice_region_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991096delT		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.712+2T>-	19.37:g.58991096delT						ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site				Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	5	2932	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)							Splice_Site	DEL	ENST00000594369.1	37		CCDS12982.1																																																																																				0.677	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908	Intron	2	4						2	4	---	---	---	---	-	58991096	T	-	58991096	8	5	227	1	0	1	0	1	0	0	1	0	17916	1710	59	0	728	0	ZNF446	19	58991096	Splice_Site	DEL	T	TCGA-FG-A87N-01A-11D-A36O-08	18037300	58991096	137887	38	27860											
OSBPL2	9885	broad.mit.edu	37	chr20	60854344	60854344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagctcaagttctgggGcaaaagcgtggaggcggagc	15	11	2	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr20:60854344G>A	ENST00000313733.3	+	7	825	c.623G>A	c.(622-624)gGc>gAc	p.G208D	OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	208					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGTTCTGGGGCAAAAGCGTG	0.587																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(622-624)gGc>gAc		oxysterol binding protein-like 2							100	81	87					20																	60854344		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60854344G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	15761	protein-coding gene	gene with protein product		606731	"oxysterol-binding protein-like 2"			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.623G>A	20.37:g.60854344G>A	ENSP00000316649:p.Gly208Asp					OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D|OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D	p.G208D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	825	+	Breast(26;7.76e-09)		208					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.623G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275400	0.95459	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951;ENST00000253000;ENST00000448156	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.79747	0.4499	H	0.98951	4.38	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	D	0.88718	0.3227	10	0.87932	D	0	-6.9448	18.0705	0.89404	0.0:0.0:1.0:0.0	.	116;196;208	E7ET92;Q9H1P3-2;Q9H1P3	.;.;OSBL2_HUMAN	D	196;208;116;79;77	ENSP00000350755:G196D;ENSP00000316649:G208D;ENSP00000397602:G116D;ENSP00000415751:G77D	ENSP00000253000:G79D	G	+	2	0	OSBPL2	60287739	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.677000	0.98645	2.418000	0.82041	0.561000	0.74099	GGC		0.587	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		3	45	0	0	0	1	0	3	45					A	60854344	G	A	60854344	3	1	227	1	0	0	0	0	1	0	0	0	11278	1203	42	2	645	2	OSBPL2	20	60854344	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		60854344	2171176	39	27861											
ACSL4	2182	broad.mit.edu	37	chrX	108902736	108902736	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaactgatcacataggactGatcactaaaaaaacagaaaa	5	7	2	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:108902736G>T	ENST00000469796.2	-	15	2221	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K|ACSL4_ENST00000340800.2_Missense_Mutation_p.Q609K			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	609					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)	ACATAGGACTGATCACTAAAA	0.323																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1825-1827)Cag>Aag		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						78	72	74					X																	108902736		2202	4300	6502	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108902736G>T	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.1825C>A	X.37:g.108902736G>T	ENSP00000419171:p.Gln609Lys					ACSL4_ENST00000469796.2_Missense_Mutation_p.Q609K|ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K	p.Q609K	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			16	2329	-			609					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1825C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	7.853	0.724499	0.15439	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.10382	2.88;2.88;2.88	5.18	5.18	0.71444	.	0.176446	0.51477	D	0.000094	T	0.10208	0.0250	L	0.41906	1.305	0.80722	D	1	B	0.11235	0.004	B	0.16722	0.016	T	0.08249	-1.0731	10	0.02654	T	1	-10.0998	18.1577	0.89699	0.0:0.0:1.0:0.0	.	609	O60488	ACSL4_HUMAN	K	568;609;609	ENSP00000262835:Q568K;ENSP00000419171:Q609K;ENSP00000339787:Q609K	ENSP00000339787:Q609K	Q	-	1	0	ACSL4	108789392	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.810000	0.99221	2.312000	0.78011	0.519000	0.50382	CAG		0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		39	67	1	0	3.21399e-22	1	3.27464e-22	39	67					T	108902736	G	T	108902736	3	4	227	1	0	0	0	0	1	0	0	0	179	1299	45	4	318	4	ACSL4	23	108902736	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		108902736	46367824	40	27862											
CUL4B	8450	broad.mit.edu	37	chrX	119673128	119673128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtaaatacttaccatagAtaaatctaaatatgatcata	3	5	2	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:119673128A>G	ENST00000404115.3	-	14	2191	c.1790T>C	c.(1789-1791)aTc>aCc	p.I597T	CUL4B_ENST00000371322.5_Missense_Mutation_p.I579T|CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	597					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTACCATAGATAAATCTAAA	0.289																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1735-1737)aTc>aCc		cullin 4B							48	42	44					X																	119673128		2195	4290	6485	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119673128A>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1790T>C	X.37:g.119673128A>G	ENSP00000384109:p.Ile597Thr					CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T|CUL4B_ENST00000404115.3_Missense_Mutation_p.I597T	p.I579T	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			12	1797	-			597					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1736T>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131297	0.77549	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.77750	-1.12;-1.12;-1.12	5.69	5.69	0.88448	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91055	0.4881	9	.	.	.	-10.178	14.008	0.64478	1.0:0.0:0.0:0.0	.	401;597;579	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	T	579;584;597	ENSP00000360373:I579T;ENSP00000338919:I584T;ENSP00000384109:I597T	.	I	-	2	0	CUL4B	119557156	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.905000	0.55150	0.486000	0.48141	ATC		0.289	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		17	24	0	0	0	1	0	17	24					G	119673128	A	G	119673128	3	3	227	1	0	0	0	0	1	0	0	0	4058	333	12	3	987	3	CUL4B	23	119673128	Missense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	10770392	119673128	35597432	41	27863											
SLC2A1	6513	broad.mit.edu	37	chr1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccggttctcctcgttgCggttgatgagcaggaagcgg	16	10	1	2	rs374080633		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43395570C>T	ENST00000426263.3	-	5	831	c.653G>A	c.(652-654)cGc>cAc	p.R218H	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	218					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)	CTCCTCGTTGCGGTTGATGAG	0.652																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	GRCh37	CM057215	SLC2A1	M		c.(652-654)cGc>cAc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						86	84	85					1																	43395570		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395570C>T	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.653G>A	1.37:g.43395570C>T	ENSP00000416293:p.Arg218His					SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.R218H	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			5	831	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	218					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.653G>A	CCDS477.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083280	0.76642	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	T;T	0.74947	-0.89;-0.89	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.175789	0.51477	D	0.000096	T	0.80984	0.4729	L	0.48935	1.535	0.80722	D	1	D	0.76494	0.999	P	0.62491	0.903	T	0.82212	-0.0569	10	0.59425	D	0.04	.	16.4098	0.83704	0.0:1.0:0.0:0.0	.	218	P11166	GTR1_HUMAN	H	218;218;160;123	ENSP00000416293:R218H;ENSP00000395521:R123H	ENSP00000361579:R218H	R	-	2	0	SLC2A1	43168157	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.600000	0.46240	2.462000	0.83206	0.650000	0.86243	CGC		0.652	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		14	35	0	0	0	1	0	14	35					T	43395570	C	T	43395570	3	4	228	1	0	0	0	0	1	0	0	0	14538	768	27	1	849	1	SLC2A1	1	43395570	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		43395570	205855051	1	27864											
TIE1	7075	broad.mit.edu	37	chr1	43778122	43778122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggacacgggggcaggagCggcgggagaacgtctcatcc	18	11	1	1	rs144699870		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43778122C>T	ENST00000372476.3	+	12	1856	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	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	593	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GGGGCAGGAGCGGCGGGAGAA	0.692																																						ENST00000372476.3																			0				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						c.(1777-1779)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1		C	TRP/ARG	0,4406		0,0,2203	37	37	37		1777	4.5	1	1	dbSNP_134	37	1,8595	1.2+/-3.3	0,1,4297	no	missense	TIE1	NM_005424.2	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	593/1139	43778122	1,13001	2203	4298	6501	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778122C>T	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.1777C>T	1.37:g.43778122C>T	ENSP00000361554:p.Arg593Trp					TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	p.R593W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			12	1856	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	593			Fibronectin type-III 2.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1777C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776235	0.70107	0.0	1.16E-4	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.58210	0.35;0.35	5.43	4.49	0.54785	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.222293	0.22765	N	0.055913	T	0.42177	0.1191	N	0.08118	0	0.33093	D	0.538245	P;D;D;D;D	0.69078	0.948;0.993;0.997;0.993;0.993	B;P;P;P;P	0.54815	0.436;0.571;0.761;0.571;0.571	T	0.56631	-0.7947	10	0.66056	D	0.02	.	7.57	0.27902	0.171:0.7387:0.0:0.0903	.	238;548;593;238;593	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	W	593;238	ENSP00000361554:R593W;ENSP00000411728:R238W	ENSP00000361554:R593W	R	+	1	2	TIE1	43550709	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.773000	0.38563	1.229000	0.43630	0.563000	0.77884	CGG		0.692	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		4	22	0	0	0	1	0	4	22					T	43778122	C	T	43778122	3	4	228	1	0	0	0	0	1	0	0	0	15890	759	27	1	1823	1	TIE1	1	43778122	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	382552	43778122	205472499	2	27865											
L1TD1	54596	broad.mit.edu	37	chr1	62676044	62676044	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtgcacaaaacccAggaggaagaggaaacagctg	14	9	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:62676044A>T	ENST00000498273.1	+	4	1893	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	533										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CACAAAACCCAGGAGGAAGAG	0.463																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1597-1599)cAg>cTg		LINE-1 type transposase domain containing 1							58	58	58					1																	62676044		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62676044A>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1598A>T	1.37:g.62676044A>T	ENSP00000419901:p.Gln533Leu						p.Q533L	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	1893	+			533					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1598A>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	8.905	0.957201	0.18507	.	.	ENSG00000240563	ENST00000498273	T	0.14266	2.52	1.68	0.499	0.16914	.	.	.	.	.	T	0.17959	0.0431	L	0.36672	1.1	0.09310	N	1	D	0.53619	0.961	P	0.59288	0.855	T	0.13442	-1.0509	9	0.62326	D	0.03	.	3.4792	0.07595	0.7747:0.0:0.2253:0.0	.	533	Q5T7N2	LITD1_HUMAN	L	533	ENSP00000419901:Q533L	ENSP00000419901:Q533L	Q	+	2	0	L1TD1	62448632	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.124000	0.10595	0.133000	0.18654	0.443000	0.29094	CAG		0.463	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		10	43	0	0	0	1	0	10	43					T	62676044	A	T	62676044	3	4	228	1	0	0	0	0	1	0	0	0	8589	188	7	5	1604	5	L1TD1	1	62676044	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	18897922	62676044	186574577	3	27866											
PTGFR	5737	broad.mit.edu	37	chr1	78958825	78958825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtgatggccattgagCggtgtattggagtcacaaaa	14	6	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:78958825C>T	ENST00000370757.3	+	2	634	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370756.3_Missense_Mutation_p.R133W	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	133					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGCCATTGAGCGGTGTATTGG	0.403																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(397-399)Cgg>Tgg		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						159	149	152					1																	78958825		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958825C>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.397C>T	1.37:g.78958825C>T	ENSP00000359793:p.Arg133Trp					PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370757.3_Missense_Mutation_p.R133W	p.R133W	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	634	+			133					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.397C>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819880	0.71028	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	D;D;D	0.97186	-4.28;-4.28;-4.28	5.85	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98530	1.0627	10	0.87932	D	0	-11.4217	15.4407	0.75181	0.3614:0.6386:0.0:0.0	.	133;133	P43088;P43088-2	PF2R_HUMAN;.	W	133	ENSP00000359794:R133W;ENSP00000359793:R133W;ENSP00000359792:R133W	ENSP00000359792:R133W	R	+	1	2	PTGFR	78731413	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.399000	0.44495	0.868000	0.35678	0.655000	0.94253	CGG		0.403	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		38	101	0	0	0	1	0	38	101					T	78958825	C	T	78958825	3	4	228	1	0	0	0	0	1	0	0	0	12749	759	27	1	399	1	PTGFR	1	78958825	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	16282781	78958825	170291796	4	27867											
KCNA10	3744	broad.mit.edu	37	chr1	111060770	111060770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccacagcacgggcagCgctggaactttcagggtact	13	13	1	0	rs576123443		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:111060770C>T	ENST00000369771.2	-	1	1027	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214					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)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GCACGGGCAGCGCTGGAACTT	0.557																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(640-642)Gct>Act		potassium voltage-gated channel, shaker-related subfamily, member 10							102	103	103					1																	111060770		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060770C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.640G>A	1.37:g.111060770C>T	ENSP00000358786:p.Ala214Thr						p.A214T	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1027	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	214						Missense_Mutation	SNP	ENST00000369771.2	37	c.640G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831562	0.32329	.	.	ENSG00000143105	ENST00000369771	T	0.62941	-0.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.73217	2.22	0.51767	D	0.999936	D	0.89917	1.0	D	0.83275	0.996	T	0.76315	-0.3004	10	0.62326	D	0.03	.	18.895	0.92420	0.0:1.0:0.0:0.0	.	214	Q16322	KCA10_HUMAN	T	214	ENSP00000358786:A214T	ENSP00000358786:A214T	A	-	1	0	KCNA10	110862293	0.999000	0.42202	0.127000	0.21898	0.088000	0.18126	4.009000	0.57110	2.797000	0.96272	0.655000	0.94253	GCT		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		18	30	0	0	0	1	0	18	30					T	111060770	C	T	111060770	3	4	228	1	0	0	0	0	1	0	0	0	8002	768	27	1	899	1	KCNA10	1	111060770	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	32101945	111060770	138189851	5	27868											
POGZ	23126	broad.mit.edu	37	chr1	151377720	151377720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgatgcatacatctAatggctgaattttggagcta	8	6	2	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:151377720A>G	ENST00000271715.2	-	19	4105	c.3791T>C	c.(3790-3792)tTa>tCa	p.L1264S	POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1264	DDE.				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)			GCATACATCTAATGGCTGAAT	0.468																																						ENST00000271715.2																			0				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						c.(3790-3792)tTa>tCa		pogo transposable element with ZNF domain							150	150	150					1																	151377720		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377720A>G	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.3791T>C	1.37:g.151377720A>G	ENSP00000271715:p.Leu1264Ser					POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S|POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S|POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S	p.L1264S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4105	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1264			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3791T>C	CCDS997.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400753	0.62177	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.98	5.98	0.97165	.	0.000000	0.46145	D	0.000303	T	0.59418	0.2192	M	0.62723	1.935	0.47547	D	0.999454	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.997;1.0	D;D;D;D;D;D	0.80764	0.99;0.99;0.994;0.994;0.991;0.99	T	0.64390	-0.6419	10	0.87932	D	0	-9.597	15.2936	0.73885	1.0:0.0:0.0:0.0	.	1202;1255;1169;1220;1211;1264	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	1211;1264;1211;1169;1255;1202;626;1220	ENSP00000376484:L1211S;ENSP00000271715:L1264S;ENSP00000354467:L1211S;ENSP00000357856:L1169S;ENSP00000386836:L1255S;ENSP00000431259:L1202S;ENSP00000443547:L626S;ENSP00000418408:L1220S	ENSP00000271715:L1264S	L	-	2	0	POGZ	149644344	0.998000	0.40836	0.709000	0.30452	0.956000	0.61745	8.438000	0.90305	2.289000	0.77006	0.482000	0.46254	TTA		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		53	122	0	0	0	1	0	53	122					G	151377720	A	G	151377720	3	3	228	1	0	0	0	0	1	0	0	0	12186	372	13	3	445	3	POGZ	1	151377720	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	40316950	151377720	97872901	6	27869											
KCNT2	343450	broad.mit.edu	37	chr1	196250026	196250026	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctgagactcagtcctgtaGattccaatgggaacatctcc	8	11	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:196250026G>C	ENST00000294725.9	-	25	3789	c.2874C>G	c.(2872-2874)atC>atG	p.I958M	KCNT2_ENST00000609185.1_Missense_Mutation_p.I884M|KCNT2_ENST00000367433.5_Missense_Mutation_p.I934M|KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	958					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCCTGTAGATTCCAATGG	0.353																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2800-2802)atC>atG		potassium channel, subfamily T, member 2							97	99	98					1																	196250026		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196250026G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2874C>G	1.37:g.196250026G>C	ENSP00000294725:p.Ile958Met					KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000294725.8_Missense_Mutation_p.I958M|KCNT2_ENST00000498426.1_5'UTR	p.I934M			Q6UVM3	KCNT2_HUMAN			24	2903	-			958					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2802C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453191	0.63290	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79845	-1.31;-1.31;-1.31	5.52	4.61	0.57282	.	0.096999	0.45867	D	0.000337	D	0.87853	0.6282	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.60575	0.98;0.988;0.988;0.988;0.98	P;D;P;D;P	0.67382	0.786;0.934;0.894;0.951;0.786	D	0.87876	0.2674	10	0.87932	D	0	-11.0064	5.7158	0.17960	0.1613:0.0:0.6808:0.1578	.	958;916;934;884;958	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	M	934;884;958	ENSP00000356403:I934M;ENSP00000356401:I884M;ENSP00000294725:I958M	ENSP00000294725:I958M	I	-	3	3	KCNT2	194516649	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.329000	0.33770	1.472000	0.48140	0.557000	0.71058	ATC		0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	34	0	0	0	1	0	12	34					C	196250026	G	C	196250026	3	2	228	1	0	0	0	0	1	0	0	0	8092	932	33	4	549	4	KCNT2	1	196250026	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	44872306	196250026	53000595	7	27870											
MRPL35	51318	broad.mit.edu	37	chr2	86434352	86434352	+	Frame_Shift_Del	DEL	C	C	-													tgaagctgccagtcagatctCtaacatacttcagtgcaaga							TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:86434352delC	ENST00000337109.4	+	3	314	c.280delC	c.(280-282)ctafs	p.L94fs	MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	94					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGTCAGATCTCTAACATACTT	0.403																																						ENST00000337109.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						c.(280-282)tafs		mitochondrial ribosomal protein L35							67	63	64					2																	86434352		2203	4300	6503	SO:0001589	frameshift_variant	51318				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr2:86434352delC	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"Mitochondrial ribosomal proteins / large subunits"	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.280delC	2.37:g.86434352delC	ENSP00000338389:p.Leu94fs					MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	p.L94fs	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN			3	314	+			94					A6NKV6|B2RB93|Q658U7|Q8WWA2	Frame_Shift_Del	DEL	ENST00000337109.4	37	c.280delC	CCDS1988.1																																																																																				0.403	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622		11	25						11	25	---	---	---	---	-	86434352	C	-	86434352	7	5	228	1	0	1	0	1	0	0	0	0	9798	912	32	0	290	0	MRPL35	2	86434352	Frame_Shift_Del	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08		86434352	156765021	8	27871											
ARHGEF4	50649	broad.mit.edu	37	chr2	131704164	131704164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctcccagagtgctccaaCgggactgaaccacatgggct	10	14	1	2	rs201813341		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:131704164C>T	ENST00000326016.5	+	4	902	c.383C>T	c.(382-384)aCg>aTg	p.T128M	ARHGEF4_ENST00000409359.1_Missense_Mutation_p.T984M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGTGCTCCAACGGGACTGAAC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19890	0.0		0.001	False		,,,				2504	0.0					ENST00000409359.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(2950-2952)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 4							115	113	114					2																	131704164		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131704164C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.383C>T	2.37:g.131704164C>T	ENSP00000316845:p.Thr128Met					ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.T128M|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M	p.T984M			Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	4	4149	+		Prostate(154;0.055)	128					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.2951C>T	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	1.489	-0.555129	0.03967	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.70399	0.91;-0.2;-0.31;0.9;0.92;-0.31;-0.48	4.48	-2.19	0.07015	.	0.734995	0.10189	N	0.704935	T	0.44746	0.1308	N	0.12746	0.255	0.09310	N	1	B;B;B;B	0.34181	0.133;0.44;0.028;0.012	B;B;B;B	0.21917	0.009;0.037;0.006;0.009	T	0.16129	-1.0413	10	0.41790	T	0.15	.	9.0652	0.36458	0.0:0.3949:0.0:0.6051	.	128;984;128;128	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	M	984;128;128;308;128;128;128	ENSP00000386794:T984M;ENSP00000316845:T128M;ENSP00000376680:T128M;ENSP00000389661:T308M;ENSP00000398455:T128M;ENSP00000432267:T128M;ENSP00000387285:T128M	ENSP00000316845:T128M	T	+	2	0	ARHGEF4	131420634	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-1.012000	0.03649	-0.474000	0.06862	-0.142000	0.14014	ACG		0.527	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			20	64	0	0	0	1	0	20	64					T	131704164	C	T	131704164	3	4	228	1	0	0	0	0	1	0	0	0	908	536	19	1	389	1	ARHGEF4	2	131704164	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45269812	131704164	111495209	9	27872											
CCDC148	130940	broad.mit.edu	37	chr2	159196883	159196883	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acatttttaagatatgtgcaCtgttgttctgatagctcttg	8	6	2	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:159196883C>G	ENST00000283233.5	-	5	670	c.357G>C	c.(355-357)caG>caC	p.Q119H	CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	119										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATATGTGCACTGTTGTTCTG	0.343																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(355-357)caG>caC		coiled-coil domain containing 148							128	126	127					2																	159196883		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159196883C>G		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.357G>C	2.37:g.159196883C>G	ENSP00000283233:p.Gln119His					CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H	p.Q119H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			5	670	-			119					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.357G>C	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261540	0.23051	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.67	5.67	0.87782	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.11329	0.006;0.002	T	0.10543	-1.0625	9	0.26408	T	0.33	-0.008	15.2636	0.73643	0.0:1.0:0.0:0.0	.	33;119	F5H839;Q8NFR7	.;CC148_HUMAN	H	119;128;33;119	ENSP00000283233:Q119H;ENSP00000386674:Q128H;ENSP00000443740:Q33H;ENSP00000386583:Q119H	ENSP00000283233:Q119H	Q	-	3	2	CCDC148	158905129	0.252000	0.23972	0.827000	0.32855	0.245000	0.25701	4.319000	0.59197	2.669000	0.90835	0.655000	0.94253	CAG		0.343	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		6	42	0	0	0	1	0	6	42					G	159196883	C	G	159196883	3	3	228	1	0	0	0	0	1	0	0	0	2782	564	20	4	1510	4	CCDC148	2	159196883	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	27492719	159196883	84002490	10	27873											
TTN	7273	broad.mit.edu	37	chr2	179431823	179431823	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagagtttggtaactttcaGagaattggtcacaacttctg	9	6	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:179431823G>T	ENST00000591111.1	-	276	74337	c.74113C>A	c.(74113-74115)Ctg>Atg	p.L24705M	TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L26346M			Q8WZ42	TITIN_HUMAN	titin	24705	Fibronectin type-III 79. {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)			GTAACTTTCAGAGAATTGGTC	0.413																																						ENST00000589042.1																			0				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						c.(79036-79038)Ctg>Atg		titin							124	122	123					2																	179431823		1864	4101	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431823G>T	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.74113C>A	2.37:g.179431823G>T	ENSP00000465570:p.Leu24705Met					TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L24705M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000590932.1_RNA	p.L26346M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79260	-			24705			Ig-like 127.		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	ENST00000591111.1	37	c.79036C>A		.	.	.	.	.	.	.	.	.	.	G	8.719	0.913988	0.17907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.62	2.79	0.32731	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60470	0.2271	L	0.43152	1.355	0.25074	N	0.99098	D;D;D;P	0.54397	0.966;0.966;0.966;0.939	P;P;P;P	0.55161	0.77;0.77;0.77;0.694	T	0.50955	-0.8766	9	0.87932	D	0	.	9.6026	0.39615	0.1169:0.1222:0.7609:0.0	.	17281;17406;17473;24705	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	23778;17281;17473;17406;17279	ENSP00000343764:L23778M;ENSP00000434586:L17281M;ENSP00000340554:L17473M;ENSP00000352154:L17406M	ENSP00000340554:L17473M	L	-	1	2	TTN	179140069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.571000	0.36450	1.341000	0.45600	0.462000	0.41574	CTG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	93	1	0	8.73648e-17	1	9.31891e-17	38	93					T	179431823	G	T	179431823	3	4	228	1	0	0	0	0	1	0	0	0	16732	933	33	4	29091	4	TTN	2	179431823	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20234940	179431823	63767550	11	27874											
ANKAR	150709	broad.mit.edu	37	chr2	190541620	190541620	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagttcttcttgtcaattacCtccagcttattatgatacca	5	10	3	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:190541620C>G	ENST00000520309.1	+	2	492	c.404C>G	c.(403-405)cCt>cGt	p.P135R	ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	135						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)			TGTCAATTACCTCCAGCTTAT	0.348																																						ENST00000520309.1																			0				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						c.(403-405)cCt>cGt		ankyrin and armadillo repeat containing							88	90	89					2																	190541620		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190541620C>G	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.404C>G	2.37:g.190541620C>G	ENSP00000427882:p.Pro135Arg					ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron	p.P135R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	492	+			135					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.404C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956542	0.73902	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575	T;T;T;T	0.57907	0.44;0.44;0.37;0.46	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000056	T	0.71099	0.3300	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.72191	-0.4365	10	0.87932	D	0	1.1783	19.6746	0.95926	0.0:1.0:0.0:0.0	.	135	Q7Z5J8	ANKAR_HUMAN	R	135;135;135;64	ENSP00000427882:P135R;ENSP00000313513:P135R;ENSP00000397243:P135R;ENSP00000393043:P64R	ENSP00000313513:P135R	P	+	2	0	ANKAR	190249865	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.164000	0.71885	2.747000	0.94245	0.650000	0.86243	CCT		0.348	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		24	72	0	0	0	1	0	24	72					G	190541620	C	G	190541620	3	3	228	1	0	0	0	0	1	0	0	0	623	681	24	4	406	4	ANKAR	2	190541620	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	11109797	190541620	52657753	12	27875											
COL7A1	1294	broad.mit.edu	37	chr3	48629445	48629445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtctgctcaacagaagCgtctgcccagggcacatggg	14	12	3	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:48629445C>T	ENST00000328333.8	-	10	1350	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	415	Fibronectin type-III 2. {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)		TCAACAGAAGCGTCTGCCCAG	0.647																																						ENST00000328333.8																			0				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						c.(1243-1245)Gct>Act		collagen, type VII, alpha 1							93	106	102					3																	48629445		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629445C>T	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.1243G>A	3.37:g.48629445C>T	ENSP00000332371:p.Ala415Thr					COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1350	-			415			Fibronectin type-III 3.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1243G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	6.881	0.531943	0.13127	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.86030	-2.05;-2.06	4.29	-8.58	0.00897	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.174260	0.06595	N	0.752700	T	0.64692	0.2621	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51733	-0.8668	10	0.17369	T	0.5	.	1.0676	0.01614	0.2466:0.3508:0.2139:0.1887	.	415	Q02388	CO7A1_HUMAN	T	415	ENSP00000332371:A415T;ENSP00000412569:A415T	ENSP00000332371:A415T	A	-	1	0	COL7A1	48604449	0.000000	0.05858	0.054000	0.19295	0.565000	0.35776	-1.556000	0.02168	-0.840000	0.04206	-1.652000	0.00757	GCT		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		26	71	0	0	0	1	0	26	71					T	48629445	C	T	48629445	3	4	228	1	0	0	0	0	1	0	0	0	3704	768	27	1	8027	1	COL7A1	3	48629445	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		48629445	149392985	13	27876											
GABRR3	200959	broad.mit.edu	37	chr3	97727875	97727875	+	RNA	DEL	C	C	-													cataaagcacatggccgaaaCcgttatcctataaaaagaat					rs78317321		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:97727875delC	ENST00000472788.1	-	0	539					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATGGCCGAAACCGTTATCCTA	0.403																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							51	44	46					3																	97727875		1850	4090	5940			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97727875delC	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97727875delC								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	539	-								Q9UIV9	RNA	DEL	ENST00000472788.1	37																																																																																						0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			2	4						2	4	---	---	---	---	-	97727875	C	-	97727875	6	5	228	0	1	1	0	1	0	0	0	0	6178	507	18	0		0	GABRR3	3	97727875	RNA	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08	49098430	97727875	100294555	14	27877											
PRR23B	389151	broad.mit.edu	37	chr3	138738846	138738846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggacaggctccagaaggcGgaattccaggtcaaagatgg	16	8	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:138738846G>A	ENST00000329447.5	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	220	Pro-rich.									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						TCCAGAAGGCGGAATTCCAGG	0.662																																						ENST00000329447.5																			0				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						c.(658-660)Cgc>Tgc		proline rich 23B							38	42	40					3																	138738846		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138738846G>A	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.658C>T	3.37:g.138738846G>A	ENSP00000328768:p.Arg220Cys					MRPS22_ENST00000495075.1_Intron	p.R220C	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	922	-			220			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.658C>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367814	0.42003	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.5	0.431	0.16523	.	0.994069	0.08158	N	0.988912	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25950	-1.0117	9	0.72032	D	0.01	.	1.7565	0.02983	0.1225:0.1969:0.4598:0.2209	.	220	Q6ZRT6	PR23B_HUMAN	C	220	.	ENSP00000328768:R220C	R	-	1	0	PRR23B	140221536	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.002000	0.12924	0.076000	0.16826	0.563000	0.77884	CGC		0.662	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		7	16	0	0	0	1	0	7	16					A	138738846	G	A	138738846	3	1	228	1	0	0	0	0	1	0	0	0	12595	1116	39	1	143	1	PRR23B	3	138738846	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	41010971	138738846	59283584	15	27878											
MECOM	2122	broad.mit.edu	37	chr3	168806963	168806963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccacttttatattcttccTctttatacctaaaatgaacc	2	11	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:168806963T>C	ENST00000464456.1	-	14	4019	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G|MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G	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						ATATTCTTCCTCTTTATACCT	0.303																																						ENST00000464456.1																			0				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						c.(2818-2820)gAg>gGg		MDS1 and EVI1 complex locus							67	66	66					3																	168806963		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168806963T>C	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.2819A>G	3.37:g.168806963T>C	ENSP00000419770:p.Glu940Gly					MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G|MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G	p.E940G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			14	4019	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2819A>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981418	0.74474	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06608	3.33;3.32;3.29;3.43;3.29;3.32;3.28;3.43	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000006	T	0.15478	0.0373	L	0.43152	1.355	0.53005	D	0.999961	P;D;P;D;D	0.59357	0.902;0.983;0.828;0.983;0.985	B;P;B;P;P	0.57009	0.415;0.811;0.17;0.811;0.777	T	0.00196	-1.1931	10	0.72032	D	0.01	-16.6973	16.1485	0.81594	0.0:0.0:0.0:1.0	.	1137;941;1128;1014;949	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	G	1014;949;940;950;1128;949;940;950	ENSP00000264674:E1014G;ENSP00000376493:E949G;ENSP00000419770:E940G;ENSP00000420048:E950G;ENSP00000417899:E1128G;ENSP00000419995:E949G;ENSP00000420466:E940G;ENSP00000394302:E950G	ENSP00000264674:E1014G	E	-	2	0	MECOM	170289657	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.271000	0.65553	2.281000	0.76405	0.533000	0.62120	GAG		0.303	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		7	38	0	0	0	1	0	7	38					C	168806963	T	C	168806963	3	2	228	1	0	0	0	0	1	0	0	0	9422	1551	54	3	317	3	MECOM	3	168806963	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	30068117	168806963	29215467	16	27879											
ECE2	9718	broad.mit.edu	37	chr3	184003274	184003274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggttgtcagcatcctgaAcaattacctgatctggaacc	8	11	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:184003274A>G	ENST00000402825.3	+	10	1511	c.1511A>G	c.(1510-1512)aAc>aGc	p.N504S	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	504	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCATCCTGAACAATTACCTG	0.522											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(1510-1512)aAc>aGc		endothelin converting enzyme 2							94	92	93					3																	184003274		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184003274A>G	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1511A>G	3.37:g.184003274A>G	ENSP00000384223:p.Asn504Ser		OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	p.N504S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1511	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		504			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.1511A>G	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989097	0.74589	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	4.23	4.23	0.50019	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.59436	1.845	0.80722	D	1	D;D;D;B;D;D;D	0.89917	1.0;1.0;1.0;0.08;1.0;1.0;1.0	D;D;D;B;D;D;D	0.77004	0.989;0.977;0.984;0.04;0.973;0.973;0.989	T	0.79057	-0.1959	10	0.41790	T	0.15	-22.0289	12.2849	0.54788	1.0:0.0:0.0:0.0	.	106;357;375;386;432;357;504	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	S	504;357;386;432;378	ENSP00000384223:N504S;ENSP00000352052:N357S;ENSP00000385846:N386S;ENSP00000350066:N432S;ENSP00000398444:N378S	ENSP00000350066:N432S	N	+	2	0	ECE2	185485968	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.348000	0.79366	1.790000	0.52503	0.383000	0.25322	AAC		0.522	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		23	51	0	0	0	1	0	23	51					G	184003274	A	G	184003274	3	3	228	1	0	0	0	0	1	0	0	0	4890	43	2	3	2113	3	ECE2	3	184003274	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	15196311	184003274	14019156	17	27880											
CDH9	1007	broad.mit.edu	37	chr5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaggtgctcattttgttgCgactgtagccatctttccga	10	9	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	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						CATTTTGTTGCGACTGTAGCC	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(1672-1674)cGc>cAc		cadherin 9, type 2 (T1-cadherin)							67	64	65					5																	26885932		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885932C>T	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.1673G>A	5.37:g.26885932C>T	ENSP00000231021:p.Arg558His						p.R558H	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1845	-			558			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1673G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219895	0.95139	.	.	ENSG00000113100	ENST00000231021	T	0.60040	0.22	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.052610	0.85682	D	0.000000	D	0.83815	0.5336	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.973;0.991	D	0.88118	0.2830	9	.	.	.	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	151;558	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	558	ENSP00000231021:R558H	.	R	-	2	0	CDH9	26921689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.740000	0.93945	0.563000	0.77884	CGC		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		12	41	0	0	0	1	0	12	41					T	26885932	C	T	26885932	3	4	228	1	0	0	0	0	1	0	0	0	3117	768	27	1	704	1	CDH9	5	26885932	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		26885932	154029328	18	27881											
GPR98	84059	broad.mit.edu	37	chr5	89949239	89949239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttggtgatgtacaacTgggctgggaaatactgtcca	13	6	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:89949239T>C	ENST00000405460.2	+	20	3944	c.3848T>C	c.(3847-3849)cTg>cCg	p.L1283P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1283					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)		GATGTACAACTGGGCTGGGAA	0.448																																						ENST00000405460.2																			0				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						c.(3847-3849)cTg>cCg		G protein-coupled receptor 98							108	100	102					5																	89949239		1950	4152	6102	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89949239T>C	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.3848T>C	5.37:g.89949239T>C	ENSP00000384582:p.Leu1283Pro						p.L1283P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	3944	+		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)	1283					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3848T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302807	0.60195	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29917	1.55	5.86	5.86	0.93980	.	0.162693	0.53938	D	0.000055	T	0.35566	0.0936	L	0.43152	1.355	0.80722	D	1	D	0.55385	0.971	P	0.46850	0.529	T	0.12372	-1.0550	10	0.72032	D	0.01	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1283	Q8WXG9	GPR98_HUMAN	P	1283	ENSP00000384582:L1283P	ENSP00000296619:L1283P	L	+	2	0	GPR98	89984995	1.000000	0.71417	0.979000	0.43373	0.412000	0.31113	7.659000	0.83766	2.367000	0.80283	0.528000	0.53228	CTG		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		12	35	0	0	0	1	0	12	35					C	89949239	T	C	89949239	3	2	228	1	0	0	0	0	1	0	0	0	6721	1580	55	3	3926	3	GPR98	5	89949239	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	63063307	89949239	90966021	19	27882											
TRPC7	57113	broad.mit.edu	37	chr5	135693011	135693011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccggatggcctggcgaCggcccttctccctcagcgtt	12	17	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:135693011C>T	ENST00000513104.1	-	2	347	c.65G>A	c.(64-66)cGt>cAt	p.R22H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	22					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)			GGCCTGGCGACGGCCCTTCTC	0.597																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(64-66)cGt>cAt		transient receptor potential cation channel, subfamily C, member 7							43	49	47					5																	135693011		2115	4241	6356	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693011C>T	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.65G>A	5.37:g.135693011C>T	ENSP00000426070:p.Arg22His					TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	347	-			22					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.65G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950067	0.92660	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.81330	-1.23;-1.39;-1.48	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.55990	1.75	0.41195	D	0.986337	D;B;B;P	0.76494	0.999;0.397;0.449;0.592	D;B;B;B	0.73380	0.98;0.17;0.134;0.189	D	0.87333	0.2326	10	0.51188	T	0.08	-15.2283	19.3333	0.94303	0.0:1.0:0.0:0.0	.	22;22;22;22	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	22	ENSP00000347312:R22H;ENSP00000441628:R22H;ENSP00000426070:R22H	ENSP00000265193:R22H	R	-	2	0	TRPC7	135720910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	CGT		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		16	54	0	0	0	1	0	16	54					T	135693011	C	T	135693011	3	4	228	1	0	0	0	0	1	0	0	0	16581	536	19	1	2567	1	TRPC7	5	135693011	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45743772	135693011	45222249	20	27883											
GABRP	2568	broad.mit.edu	37	chr5	170235639	170235639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtcttacagtttgagcttCggaggaatgttctgtatttc	11	6	2	1	rs202158019		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:170235639C>T	ENST00000518525.1	+	9	1179	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	GABRP_ENST00000519598.1_Missense_Mutation_p.R239W|GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519385.1_Missense_Mutation_p.R239W			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	239					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R239W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|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)	GTTTGAGCTTCGGAGGAATGT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20351	0.0		0.0	False		,,,				2504	0.0					ENST00000518525.1																			1	Substitution - Missense(1)	p.R239W(1)	endometrium(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(715-717)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, pi		C	TRP/ARG	0,4406		0,0,2203	213	188	197		715	4	1	5		197	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRP	NM_014211.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	239/441	170235639	1,13005	2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170235639C>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.715C>T	5.37:g.170235639C>T	ENSP00000430100:p.Arg239Trp					GABRP_ENST00000519385.1_Missense_Mutation_p.R239W|GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519598.1_Missense_Mutation_p.R239W	p.R239W			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1179	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	239					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.715C>T	CCDS4375.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.68	3.191002	0.58017	0.0	1.16E-4	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.94	4.01	0.46588	Neurotransmitter-gated ion-channel ligand-binding (3);	0.162693	0.56097	D	0.000039	D	0.87410	0.6170	M	0.82823	2.61	0.44214	D	0.997041	D;D	0.65815	0.995;0.987	P;P	0.56612	0.727;0.802	D	0.89621	0.3848	10	0.87932	D	0	.	14.1467	0.65355	0.2067:0.7933:0.0:0.0	.	239;239	E7EWG0;O00591	.;GBRP_HUMAN	W	239;137;239;239;239	ENSP00000430100:R239W;ENSP00000265294:R239W;ENSP00000430727:R239W;ENSP00000430772:R239W	ENSP00000265294:R239W	R	+	1	2	GABRP	170168217	0.961000	0.32948	0.999000	0.59377	0.920000	0.55202	1.030000	0.30153	2.431000	0.82371	0.655000	0.94253	CGG		0.423	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		17	31	0	0	0	1	0	17	31					T	170235639	C	T	170235639	3	4	228	1	0	0	0	0	1	0	0	0	6174	875	31	1	741	1	GABRP	5	170235639	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	34542628	170235639	10679621	21	27884											
GNB2L1	10399	broad.mit.edu	37	chr5	180669308	180669308	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtggaattccatagttggtCtcatccctggtcagtttcca	9	10	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:180669308C>G	ENST00000512805.1	-	2	555	c.147G>C	c.(145-147)gaG>gaC	p.E49D	GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000505461.1_5'UTR|SNORD95_ENST00000579879.1_RNA	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	49					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	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)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CATAGTTGGTCTCATCCCTGG	0.488																																						ENST00000512805.1																			0				lung(3)|skin(2)	5						c.(145-147)gaG>gaC		guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1							97	83	88					5																	180669308		2203	4300	6503	SO:0001583	missense	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180669308C>G	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"WD repeat domain containing"	4399	protein-coding gene	gene with protein product	"Receptor for Activated C Kinase 1"	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.147G>C	5.37:g.180669308C>G	ENSP00000426909:p.Glu49Asp					GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D	p.E49D	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	2	555	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	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)	49					B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	ENST00000512805.1	37	c.147G>C	CCDS34324.1	.	.	.	.	.	.	.	.	.	.	C	6.431	0.447650	0.12223	.	.	ENSG00000204628	ENST00000511566;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000503081;ENST00000513027;ENST00000456394	T;T;T;T;T;T;T;T;T;T	0.72051	0.32;0.38;0.25;0.49;0.38;0.37;0.4;-0.62;-0.15;0.06	5.77	3.98	0.46160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.161665	0.53938	D	0.000049	T	0.44519	0.1297	N	0.05351	-0.065	0.58432	D	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.28396	-1.0045	10	0.11794	T	0.64	-22.9177	8.1638	0.31215	0.0:0.7535:0.0:0.2465	.	49;20;97;49	E9PD14;B4DVD2;D6R9L0;P63244	.;.;.;GBLP_HUMAN	D	49;49;49;49;97;35;8;49;89;49	ENSP00000426101:E49D;ENSP00000426909:E49D;ENSP00000422768:E49D;ENSP00000425008:E49D;ENSP00000423569:E97D;ENSP00000422029:E35D;ENSP00000421416:E8D;ENSP00000424237:E49D;ENSP00000421356:E89D;ENSP00000394470:E49D	ENSP00000394470:E49D	E	-	3	2	GNB2L1	180601914	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	0.940000	0.28992	1.444000	0.47605	0.655000	0.94253	GAG		0.488	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		4	24	0	0	0	1	0	4	24					G	180669308	C	G	180669308	3	3	228	1	0	0	0	0	1	0	0	0	6518	912	32	4	834	4	GNB2L1	5	180669308	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	10433669	180669308	245952	22	27885											
PHF1	5252	broad.mit.edu	37	chr6	33382304	33382304	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcctctctgctctTaacagccacaaggaccggtg	9	15	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:33382304T>G	ENST00000374516.3	+	10	1198	c.927T>G	c.(925-927)ctT>ctG	p.L309L	PHF1_ENST00000374512.3_Silent_p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	309					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTCTGCTCTTAACAGCCACA	0.547											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(925-927)ctT>ctG		PHD finger protein 1							89	89	89					6																	33382304		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382304T>G	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.927T>G	6.37:g.33382304T>G			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.L309L	p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			10	1198	+		Ovarian(999;0.0443)	309					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.927T>G	CCDS4777.1																																																																																				0.547	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			24	73	0	0	0	1	0	24	73					G	33382304	T	G	33382304	2	3	228	1	0	0	0	0	0	0	0	1	11820	1741	61	5		5	PHF1	6	33382304	Silent	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08		33382304	137732763	23	27886											
ABCC10	89845	broad.mit.edu	37	chr6	43415637	43415637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcgagtgctgctggaCggcgtggacaccagccagct	16	12	1	0	rs144509707		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:43415637C>T	ENST00000372530.4	+	18	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_ENST00000244533.3_Silent_p.D1279D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TGCTGCTGGACGGCGTGGACA	0.632																																						ENST00000244533.3																			0				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						c.(3835-3837)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		C	,	2,4404	4.2+/-10.8	0,2,2201	44	42	43		3921,3837	-6.3	0.2	6	dbSNP_134	43	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ABCC10	NM_001198934.1,NM_033450.2	,	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	,	1307/1493,1279/1465	43415637	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415637C>T	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.3921C>T	6.37:g.43415637C>T						ABCC10_ENST00000372530.4_Silent_p.D1307D	p.D1279D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4196	+	all_lung(25;0.00536)		1307			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3837C>T	CCDS56430.1																																																																																				0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		7	34	0	0	0	1	0	7	34					T	43415637	C	T	43415637	2	4	228	1	0	0	0	0	0	0	0	1	50	535	19	1		1	ABCC10	6	43415637	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	10033333	43415637	127699430	24	27887											
ENPP5	59084	broad.mit.edu	37	chr6	46135348	46135348	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttttcagcatttgtatgaGatatcctaacttcttgtcaa	5	8	3	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:46135348G>T	ENST00000371383.2	-	3	912	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATTTGTATGAGATATCCTAAC	0.443																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(652-654)Ctc>Atc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							108	98	101					6																	46135348		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135348G>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.652C>A	6.37:g.46135348G>T	ENSP00000360436:p.Leu218Ile					ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I	p.L218I			Q9UJA9	ENPP5_HUMAN			3	912	-			218						Missense_Mutation	SNP	ENST00000371383.2	37	c.652C>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063250	0.76187	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.81330	-1.48;-1.48	5.33	5.33	0.75918	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	M	0.75615	2.305	0.45439	D	0.998416	D;D	0.55605	0.972;0.972	P;P	0.60415	0.773;0.874	D	0.85757	0.1347	10	0.59425	D	0.04	-15.1696	12.7185	0.57129	0.0751:0.0:0.9249:0.0	.	218;218	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	I	218	ENSP00000360436:L218I;ENSP00000230565:L218I	ENSP00000230565:L218I	L	-	1	0	ENPP5	46243307	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.277000	0.72608	2.652000	0.90054	0.655000	0.94253	CTC		0.443	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			21	64	1	0	4.96729e-08	1	5.18326e-08	21	64					T	46135348	G	T	46135348	3	4	228	1	0	0	0	0	1	0	0	0	5133	942	33	4	793	4	ENPP5	6	46135348	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	2719711	46135348	124979719	25	27888											
ECHDC1	55862	broad.mit.edu	37	chr6	127652088	127652088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttcctcataaaatccatggGatgtactataaagtgacaat	6	8	1	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:127652088G>T	ENST00000531967.1	-	2	607	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	35						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AAATCCATGGGATGTACTATA	0.398																																						ENST00000531967.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(103-105)tCc>tAc		enoyl CoA hydratase domain containing 1							88	83	84					6																	127652088		2203	4300	6503	SO:0001583	missense	55862						catalytic activity	g.chr6:127652088G>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.104C>A	6.37:g.127652088G>T	ENSP00000436585:p.Ser35Tyr					ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y	p.S35Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	2	607	-			35					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.104C>A	CCDS47471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.83|11.83	1.756737|1.756737	0.31137|0.31137	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000436638|ENST00000454859;ENST00000531967;ENST00000368290;ENST00000474289;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582	.|T;T;T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;0.76;-0.16;0.85	6.06|6.06	3.33|3.33	0.38152|0.38152	.|.	.|0.743246	.|0.13596	.|N	.|0.376211	T|T	0.38268|0.38268	0.1034|0.1034	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|P;B	.|0.38863	.|0.65;0.325	.|B;B	.|0.37198	.|0.243;0.068	T|T	0.39375|0.39375	-0.9617|-0.9617	5|10	.|0.72032	.|D	.|0.01	-13.6379|-13.6379	5.0458|5.0458	0.14483|0.14483	0.1145:0.1205:0.6403:0.1247|0.1145:0.1205:0.6403:0.1247	.|.	.|29;35	.|Q5TEF6;Q9NTX5	.|.;ECHD1_HUMAN	T|Y	3|29;35;29;29;29;29;29;29;29;29;29	.|ENSP00000401751:S29Y;ENSP00000436585:S35Y;ENSP00000434908:S29Y;ENSP00000311115:S29Y;ENSP00000402492:S29Y;ENSP00000435502:S29Y	.|ENSP00000311115:S29Y	P|S	-|-	1|2	0|0	ECHDC1|ECHDC1	127693781|127693781	0.996000|0.996000	0.38824|0.38824	0.126000|0.126000	0.21872|0.21872	0.770000|0.770000	0.43624|0.43624	2.963000|2.963000	0.49184|0.49184	0.436000|0.436000	0.26393|0.26393	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.398	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			20	38	1	0	8.10497e-08	1	8.36642e-08	20	38					T	127652088	G	T	127652088	3	4	228	1	0	0	0	0	1	0	0	0	4893	1174	41	4	839	4	ECHDC1	6	127652088	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	81516740	127652088	43462979	26	27889											
EGFR	1956	broad.mit.edu	37	chr7	55221744	55221744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagccacgtgcaaggacaCctgccccccactcatgctct	8	18	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55221744C>T	ENST00000275493.2	+	7	965	c.788C>T	c.(787-789)aCc>aTc	p.T263I	EGFR_ENST00000455089.1_Missense_Mutation_p.T218I|EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000454757.2_Missense_Mutation_p.T210I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	TGCAAGGACACCTGCCCCCCA	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(787-789)aCc>aTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						220	172	188					7																	55221744		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221744C>T		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.788C>T	7.37:g.55221744C>T	ENSP00000275493:p.Thr263Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.T210I|EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000455089.1_Missense_Mutation_p.T218I	p.T263I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		7	965	+	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)		263					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.788C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080320	0.55753	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.8	4.89	0.63831	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.244508	0.45361	D	0.000372	D	0.88647	0.6493	M	0.79011	2.435	0.37264	D	0.907137	B;P;D;D;P	0.61080	0.307;0.682;0.989;0.975;0.816	B;B;P;P;B	0.54312	0.158;0.188;0.748;0.587;0.354	D	0.89999	0.4113	10	0.49607	T	0.09	.	10.7482	0.46194	0.1466:0.712:0.1414:0.0	.	218;263;263;263;263	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	I	218;263;133;263;263;263;263;210;57	ENSP00000415559:T218I;ENSP00000342376:T263I;ENSP00000345973:T263I;ENSP00000413843:T263I;ENSP00000275493:T263I;ENSP00000410031:T263I;ENSP00000395243:T210I	ENSP00000275493:T263I	T	+	2	0	EGFR	55189238	0.916000	0.31088	1.000000	0.80357	0.973000	0.67179	1.912000	0.39946	2.747000	0.94245	0.462000	0.41574	ACC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		245	370	0	0	0	1	0	245	370					T	55221744	C	T	55221744	3	4	228	1	0	0	0	0	1	0	0	0	4967	507	18	2	814	2	EGFR	7	55221744	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		55221744	103916919	27	27890											
EGFR	1956	broad.mit.edu	37	chr7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgtggacaacccccacGtgtgccgcctgctgggcatc	12	17	0	0	rs567477136|rs397517114		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.V721M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	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)	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		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)	CAACCCCCACGTGTGCCGCCT	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		16	Insertion - In frame(11)|Substitution - Missense(5)	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)	lung(16)	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						c.(2320-2322)Gtg>Atg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						105	95	98					7																	55249022		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249022G>A		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.2320G>A	7.37:g.55249022G>A	ENSP00000275493:p.Val774Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.V721M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M	p.V774M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		20	2497	+	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)		774			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2320G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545244	0.86022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68025	-0.3;-0.3;-0.3	5.85	4.97	0.65823	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	0.87418	0.6172	H	0.96662	3.86	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.968;0.997	D	0.91251	0.5029	10	0.87932	D	0	.	13.8489	0.63485	0.0742:0.0:0.9258:0.0	.	729;774	Q504U8;P00533	.;EGFR_HUMAN	M	729;644;774;721	ENSP00000415559:V729M;ENSP00000275493:V774M;ENSP00000395243:V721M	ENSP00000275493:V774M	V	+	1	0	EGFR	55216516	1.000000	0.71417	0.921000	0.36526	0.987000	0.75469	7.838000	0.86804	1.472000	0.48140	0.655000	0.94253	GTG		0.632	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		93	892	0	0	0	1	0	93	892					A	55249022	G	A	55249022	3	1	228	1	0	0	0	0	1	0	0	0	4967	1145	40	1	2662	1	EGFR	7	55249022	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	27278	55249022	103889641	28	27891											
RHBDD2	57414	broad.mit.edu	37	chr7	75511478	75511478	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtcctggttccgtggctCctgctgggtgcctcgtggct	14	13	1	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:75511478C>T	ENST00000006777.6	+	2	645	c.510C>T	c.(508-510)ctC>ctT	p.L170L	RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Silent_p.L29L	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	170						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TTCCGTGGCTCCTGCTGGGTG	0.607																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(85-87)ctC>ctT		rhomboid domain containing 2							55	57	56					7																	75511478		2125	4238	6363	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511478C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.510C>T	7.37:g.75511478C>T						RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000006777.6_Silent_p.L170L	p.L29L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			3	716	+			170					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.87C>T	CCDS43602.1																																																																																				0.607	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		12	46	0	0	0	1	0	12	46					T	75511478	C	T	75511478	2	4	228	1	0	0	0	0	0	0	0	1	13317	842	30	2		2	RHBDD2	7	75511478	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	20262456	75511478	83627185	29	27892											
HGF	3082	broad.mit.edu	37	chr7	81381472	81381472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcacagacttcgtagcGtacctctggattgcttgtga	10	9	2	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81381472G>A	ENST00000222390.5	-	5	815	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	HGF_ENST00000453411.1_Missense_Mutation_p.R192C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C|HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	197	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|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 via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTTCGTAGCGTACCTCTGGA	0.483																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(589-591)Cgc>Tgc		hepatocyte growth factor (hepapoietin A; scatter factor)							152	130	138					7																	81381472		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81381472G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.589C>T	7.37:g.81381472G>A	ENSP00000222390:p.Arg197Cys					HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C|HGF_ENST00000453411.1_Missense_Mutation_p.R192C	p.R197C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			5	815	-			197			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.589C>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078237	0.94000	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	6.05	6.05	0.98169	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	H	0.96576	3.845	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	0.997;1.0;0.999;0.993;0.996	D	0.91549	0.5255	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	232;192;197;192;197	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	C	197;192;197;192;197;197	ENSP00000222390:R197C;ENSP00000391238:R192C;ENSP00000389854:R197C;ENSP00000408270:R192C;ENSP00000413829:R197C	ENSP00000222390:R197C	R	-	1	0	HGF	81219408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.966000	0.93397	2.880000	0.98712	0.655000	0.94253	CGC		0.483	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		3	60	0	0	0	1	0	3	60					A	81381472	G	A	81381472	3	1	228	1	0	0	0	0	1	0	0	0	7085	1145	40	1	1673	1	HGF	7	81381472	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	5869994	81381472	77757191	30	27893											
CACNA2D1	781	broad.mit.edu	37	chr7	81600001	81600001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttactctttgggatAaactctggtaatcccaccat	6	10	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81600001A>G	ENST00000356253.5	-	27	2485	c.2230T>C	c.(2230-2232)Tat>Cat	p.Y744H	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.Y732H|CACNA2D1_ENST00000535308.1_Silent_p.F7F			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	744					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCTTTGGGATAAACTCTGGTA	0.363																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2194-2196)Tat>Cat		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						138	131	134					7																	81600001		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81600001A>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2230T>C	7.37:g.81600001A>G	ENSP00000348589:p.Tyr744His					CACNA2D1_ENST00000535308.1_Silent_p.F7F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y744H	p.Y732H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			27	2532	-			744					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2194T>C		.	.	.	.	.	.	.	.	.	.	A	17.77	3.471842	0.63737	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.70869	-0.52;-0.52	5.54	5.54	0.83059	.	0.361115	0.29438	N	0.012151	T	0.79992	0.4542	M	0.62723	1.935	0.80722	D	1	D	0.55385	0.971	D	0.65987	0.94	T	0.76130	-0.3072	10	0.18276	T	0.48	-16.5894	15.3598	0.74464	1.0:0.0:0.0:0.0	.	732	P54289-2	.	H	732;751;744	ENSP00000349320:Y732H;ENSP00000348589:Y744H	ENSP00000284088:Y751H	Y	-	1	0	CACNA2D1	81437937	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.856000	0.92245	2.107000	0.64212	0.477000	0.44152	TAT		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				20	58	0	0	0	1	0	20	58					G	81600001	A	G	81600001	3	3	228	1	0	0	0	0	1	0	0	0	2548	362	13	3	1133	3	CACNA2D1	7	81600001	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	218529	81600001	77538662	31	27894											
NPTX2	4885	broad.mit.edu	37	chr7	98254436	98254436	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaacgagatcgtgctgatCgagtggggcaacaaccccat	12	12	0	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:98254436C>T	ENST00000265634.3	+	3	1011	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	282	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTGCTGATCGAGTGGGGCA	0.642																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(844-846)atC>atT		neuronal pentraxin II							91	76	81					7																	98254436		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254436C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.846C>T	7.37:g.98254436C>T							p.I282I	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1011	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		282			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.846C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		10	63	0	0	0	1	0	10	63					T	98254436	C	T	98254436	2	4	228	1	0	0	0	0	0	0	0	1	10603	874	31	1		1	NPTX2	7	98254436	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	16654435	98254436	60884227	32	27895											
TBXAS1	6916	broad.mit.edu	37	chr7	139661796	139661796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcaagactttgacatcGtcagagacgttttctcctct	9	11	3	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:139661796G>A	ENST00000336425.5	+	13	1287	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I|TBXAS1_ENST00000263552.6_Missense_Mutation_p.V301I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	300					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)	CTTTGACATCGTCAGAGACGT	0.542																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(901-903)Gtc>Atc		thromboxane A synthase 1 (platelet)							97	84	89					7																	139661796		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661796G>A	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.898G>A	7.37:g.139661796G>A	ENSP00000338087:p.Val300Ile					TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V300I	p.V301I	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			13	1439	+	Melanoma(164;0.0142)		300					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.901G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613029	0.46631	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.41;-0.41;-0.32;-0.41;-0.35;-0.41;-0.32;-0.37	5.28	5.28	0.74379	.	1.863740	0.02526	N	0.093046	T	0.59972	0.2233	L	0.55743	1.74	0.80722	D	1	B;B;B;P;B;B;B	0.35872	0.1;0.1;0.162;0.525;0.248;0.377;0.377	B;B;B;B;B;B;B	0.26310	0.036;0.036;0.039;0.068;0.039;0.047;0.047	T	0.56050	-0.8043	10	0.21540	T	0.41	.	7.8589	0.29499	0.1148:0.1561:0.7292:0.0	.	281;347;252;233;301;301;300	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	I	233;301;300;347;301;301;300;346;300	ENSP00000388736:V233I;ENSP00000263552:V301I;ENSP00000338087:V300I;ENSP00000389414:V347I;ENSP00000392361:V301I;ENSP00000392702:V301I;ENSP00000402536:V300I;ENSP00000411274:V346I;ENSP00000411326:V300I	ENSP00000263552:V301I	V	+	1	0	TBXAS1	139308265	0.964000	0.33143	0.455000	0.27031	0.052000	0.14988	3.083000	0.50136	2.756000	0.94617	0.655000	0.94253	GTC		0.542	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			8	40	0	0	0	1	0	8	40					A	139661796	G	A	139661796	3	1	228	1	0	0	0	0	1	0	0	0	15661	1145	40	1	1077	1	TBXAS1	7	139661796	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	41407360	139661796	19476867	33	27896											
KEL	3792	broad.mit.edu	37	chr7	142651436	142651436	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggttcccagctgattcagGtaagtcaggtattcccgaaa	10	9	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:142651436G>T	ENST00000355265.2	-	8	1233	c.759C>A	c.(757-759)taC>taA	p.Y253*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	253					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGATTCAGGTAAGTCAGGT	0.527																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(757-759)taC>taA		Kell blood group, metallo-endopeptidase							113	113	113					7																	142651436		2203	4300	6503	SO:0001587	stop_gained	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651436G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.759C>A	7.37:g.142651436G>T	ENSP00000347409:p.Tyr253*					KEL_ENST00000479768.2_5'UTR	p.Y253*	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			8	1233	-	Melanoma(164;0.059)		253					B2RBV4|Q96RS8|Q99885	Nonsense_Mutation	SNP	ENST00000355265.2	37	c.759C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568064	0.28003	.	.	ENSG00000197993	ENST00000355265;ENST00000476829	.	.	.	6.07	4.21	0.49690	.	0.000000	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7596	9.1774	0.37120	0.1779:0.0:0.8221:0.0	.	.	.	.	X	253;183	.	ENSP00000347409:Y253X	Y	-	3	2	KEL	142361558	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	1.160000	0.31761	1.516000	0.48900	0.585000	0.79938	TAC		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		20	80	1	0	4.63292e-17	1	4.99731e-17	20	80					T	142651436	G	T	142651436	4	4	228	1	0	0	0	0	0	1	0	0	8142	1256	44	4	1487	4	KEL	7	142651436	Nonsense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	2989640	142651436	16487227	34	27897											
CSMD1	64478	broad.mit.edu	37	chr8	2886955	2886955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcaatacttgagcacCgtactcattcaaggatcctg	8	12	3	1	rs200463703		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:2886955C>T	ENST00000520002.1	-	52	8299	c.7744G>A	c.(7744-7746)Ggt>Agt	p.G2582S	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2582S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2582	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		ACTTGAGCACCGTACTCATTC	0.537																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7744-7746)Ggt>Agt		CUB and Sushi multiple domains 1		C	SER/GLY	0,3978		0,0,1989	65	63	63		7741	4.9	0.1	8		63	2,8328		0,2,4163	yes	missense	CSMD1	NM_033225.5	56	0,2,6152	TT,TC,CC		0.024,0.0,0.0162	benign	2581/3565	2886955	2,12306	1989	4165	6154	SO:0001583	missense	64478					integral to membrane		g.chr8:2886955C>T			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.7744G>A	8.37:g.2886955C>T	ENSP00000430733:p.Gly2582Ser					CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2582S	p.G2582S			Q96PZ7	CSMD1_HUMAN		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)	52	8299	-		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)	2582			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7744G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.61|14.61	2.586134|2.586134	0.46110|0.46110	0.0|0.0	2.4E-4|2.4E-4	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.72394|.	-0.65;-0.65;-0.65;-0.65|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Complement control module (2);Sushi/SCR/CCP (3);|.	0.167769|.	0.39909|.	N|.	0.001221|.	T|T	0.76219|0.76219	0.3957|0.3957	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63880|.	0.98;0.897;0.993|.	P;B;P|.	0.61201|.	0.535;0.418;0.885|.	T|T	0.76399|0.76399	-0.2973|-0.2973	10|5	0.44086|.	T|.	0.13|.	.|.	18.2377|18.2377	0.89956|0.89956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2582;2582;2581|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	S|Q	2582;2582;2443;2581;2581|1998	ENSP00000383047:G2582S;ENSP00000430733:G2582S;ENSP00000441462:G2581S;ENSP00000446243:G2581S|.	ENSP00000320445:G2443S|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2874362|2874362	0.999000|0.999000	0.42202|0.42202	0.130000|0.130000	0.21974|0.21974	0.168000|0.168000	0.22595|0.22595	6.559000|6.559000	0.73946|0.73946	2.552000|2.552000	0.86080|0.86080	0.591000|0.591000	0.81541|0.81541	GGT|CGG		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	16	0	0	0	1	0	4	16					T	2886955	C	T	2886955	3	4	228	1	0	0	0	0	1	0	0	0	3944	652	23	1	3033	1	CSMD1	8	2886955	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2886955	143477067	35	27898											
ADAM7	8756	broad.mit.edu	37	chr8	24304756	24304756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatagaaaaaccttagtcCttcatcttctaagatccagg	5	9	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:24304756C>T	ENST00000175238.6	+	3	297	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	72						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)		AACCTTAGTCCTTCATCTTCT	0.328																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(214-216)Ctt>Ttt		ADAM metallopeptidase domain 7							110	116	114					8																	24304756		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24304756C>T	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.214C>T	8.37:g.24304756C>T	ENSP00000175238:p.Leu72Phe					ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F|RP11-624C23.1_ENST00000523578.1_RNA	p.L72F	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	3	297	+		Prostate(55;0.0181)	72					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.214C>T	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557416	0.45590	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.20738	2.05;2.05;2.05	4.12	2.29	0.28610	Peptidase M12B, propeptide (1);	0.000000	0.44285	D	0.000473	T	0.40322	0.1112	M	0.81682	2.555	0.58432	D	0.999999	D;D	0.76494	0.983;0.999	D;D	0.68483	0.913;0.958	T	0.21245	-1.0251	10	0.87932	D	0	.	5.066	0.14582	0.2051:0.6879:0.0:0.107	.	72;72	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	F	72	ENSP00000393073:L72F;ENSP00000175238:L72F;ENSP00000370166:L72F	ENSP00000175238:L72F	L	+	1	0	ADAM7	24360646	0.981000	0.34729	0.735000	0.30896	0.974000	0.67602	1.667000	0.37471	0.679000	0.31345	0.655000	0.94253	CTT		0.328	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		20	76	0	0	0	1	0	20	76					T	24304756	C	T	24304756	3	4	228	1	0	0	0	0	1	0	0	0	251	681	24	2	224	2	ADAM7	8	24304756	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	21417801	24304756	122059266	36	27899											
EBF2	64641	broad.mit.edu	37	chr8	25747368	25747368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtccatccacattcacCgttgttgacaacacaacctg	6	14	1	1	rs189560419		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:25747368C>T	ENST00000520164.1	-	8	1188	c.651G>A	c.(649-651)acG>acA	p.T217T	EBF2_ENST00000535548.1_5'Flank|EBF2_ENST00000408929.3_Silent_p.T69T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	217					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCACATTCACCGTTGTTGACA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20401	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(649-651)acG>acA		early B-cell factor 2							94	87	89					8																	25747368		1993	4171	6164	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25747368C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.651G>A	8.37:g.25747368C>T						EBF2_ENST00000408929.3_Silent_p.T69T	p.T217T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	8	1188	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	217					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.651G>A	CCDS43726.1																																																																																				0.428	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		20	58	0	0	0	1	0	20	58					T	25747368	C	T	25747368	2	4	228	1	0	0	0	0	0	0	0	1	4881	639	23	1		1	EBF2	8	25747368	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	1442612	25747368	120616654	37	27900											
ADAM2	2515	broad.mit.edu	37	chr8	39624684	39624684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttactagacagttttcGcagcatggtccttcagcaca	8	12	2	1	rs150053966	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:39624684G>A	ENST00000265708.4	-	13	1402	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C307C|ADAM2_ENST00000347580.4_Silent_p.C414C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	433	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACAGTTTTCGCAGCATGGTC	0.348													.|||	3	0.000599042	0.0	0.0	5008	,	,		20476	0.002		0.001	False		,,,				2504	0.0					ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1297-1299)tgC>tgT		ADAM metallopeptidase domain 2							157	153	154					8																	39624684		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624684G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1299C>T	8.37:g.39624684G>A						ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000347580.4_Silent_p.C414C|ADAM2_ENST00000379853.2_Silent_p.C307C	p.C433C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	13	1402	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	433			Disintegrin.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1299C>T	CCDS34884.1																																																																																				0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		25	63	0	0	0	1	0	25	63					A	39624684	G	A	39624684	2	1	228	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39624684	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	13877316	39624684	106739338	38	27901											
C8orf34	116328	broad.mit.edu	37	chr8	69552632	69552632	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttaatgatttaagaaTggagggagtaacaaccctgg	12	5	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:69552632T>G	ENST00000539993.1	+	8	1418	c.869T>G	c.(868-870)aTg>aGg	p.M290R	C8orf34_ENST00000337103.4_Missense_Mutation_p.M265R|C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	290										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GATTTAAGAATGGAGGGAGTA	0.398																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(793-795)aTg>aGg		chromosome 8 open reading frame 34							83	78	80					8																	69552632		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552632T>G	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.869T>G	8.37:g.69552632T>G	ENSP00000438159:p.Met290Arg					C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000539993.1_Missense_Mutation_p.M290R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R	p.M265R			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2386	+			290					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.794T>G		.	.	.	.	.	.	.	.	.	.	T	13.62	2.290850	0.40494	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.58797	0.88;0.91;0.9;0.31	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	L	0.56769	1.78	0.58432	D	0.999996	D	0.58970	0.984	D	0.71656	0.974	T	0.71189	-0.4666	9	.	.	.	-12.8922	15.5537	0.76173	0.0:0.0:0.0:1.0	.	290	Q49A92	CH034_HUMAN	R	376;290;265;34	ENSP00000427820:M376R;ENSP00000438159:M290R;ENSP00000337174:M265R;ENSP00000319532:M34R	.	M	+	2	0	C8orf34	69715186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.079000	0.62486	0.482000	0.46254	ATG		0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		13	35	0	0	0	1	0	13	35					G	69552632	T	G	69552632	3	3	228	1	0	0	0	0	1	0	0	0	2422	1464	51	5	820	5	C8orf34	8	69552632	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	29927948	69552632	76811390	39	27902											
RIMS2	9699	broad.mit.edu	37	chr8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcttgttgttttagtcGgaatgtggaacaggggcttc	13	5	1	1	rs368813886		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:105001535G>A	ENST00000436393.2	+	15	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R769Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17562	0.0		0.0	False		,,,				2504	0.0					ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2305-2307)cGg>cAg		regulating synaptic membrane exocytosis 2		G	GLN/ARG,GLN/ARG	2,3706		0,2,1852	130	126	127		2930,2306	5.5	1	8		127	0,8196		0,0,4098	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	43,43	0,2,5950	AA,AG,GG		0.0,0.0539,0.0168	probably-damaging,probably-damaging	977/1350,769/1164	105001535	2,11902	1854	4098	5952	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001535G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2264G>A	8.37:g.105001535G>A	ENSP00000390665:p.Arg755Gln	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q	p.R769Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2542	+			1039					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2306G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708325	0.68615	5.39E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.18502	2.21;2.77;2.41;2.38;2.3;2.65	5.54	5.54	0.83059	.	.	.	.	.	T	0.29389	0.0732	L	0.40543	1.245	0.80722	D	1	B;D;P;D;D	0.69078	0.107;0.997;0.584;0.991;0.996	B;P;B;P;P	0.59221	0.029;0.592;0.05;0.449;0.854	T	0.00872	-1.1532	9	0.20519	T	0.43	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1039;755;816;769;977	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	977;992;977;1039;816;769;769;755	ENSP00000427018:R977Q;ENSP00000384892:R977Q;ENSP00000262231:R816Q;ENSP00000423559:R769Q;ENSP00000386228:R769Q;ENSP00000390665:R755Q	ENSP00000262231:R816Q	R	+	2	0	RIMS2	105070711	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	6.252000	0.72447	2.617000	0.88574	0.484000	0.47621	CGG		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		15	42	0	0	0	1	0	15	42					A	105001535	G	A	105001535	3	1	228	1	0	0	0	0	1	0	0	0	13368	1116	39	1	3122	1	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	35448903	105001535	41362487	40	27903											
SCRIB	23513	broad.mit.edu	37	chr8	144893419	144893419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggacgctgagtgccaCacagcccccgatctcgggcg	15	14	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:144893419C>T	ENST00000320476.3	-	10	1009	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	SCRIB_ENST00000356994.2_Missense_Mutation_p.V335M|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	335	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGAGTGCCACACAGCCCCCG	0.677																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1003-1005)Gtg>Atg		scribbled planar cell polarity protein							31	25	27					8																	144893419		2201	4297	6498	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893419C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1003G>A	8.37:g.144893419C>T	ENSP00000322938:p.Val335Met					SCRIB_ENST00000320476.3_Missense_Mutation_p.V335M|SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M	p.V335M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		10	1009	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		335			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1003G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	8.417	0.845421	0.16963	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.53206	2.19;0.63;1.81	3.14	0.204	0.15199	.	.	.	.	.	T	0.45895	0.1365	L	0.42245	1.32	0.09310	N	1	P;P	0.50943	0.938;0.94	P;P	0.50617	0.646;0.601	T	0.34601	-0.9822	9	0.48119	T	0.1	.	8.3548	0.32324	0.0:0.6992:0.0:0.3008	.	335;335	Q14160;Q14160-3	SCRIB_HUMAN;.	M	335;335;254	ENSP00000349486:V335M;ENSP00000322938:V335M;ENSP00000366756:V254M	ENSP00000322938:V335M	V	-	1	0	SCRIB	144965407	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.038000	0.12144	0.172000	0.19760	0.563000	0.77884	GTG		0.677	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	8	0	0	0	1	0	3	8					T	144893419	C	T	144893419	3	4	228	1	0	0	0	0	1	0	0	0	13937	478	17	2	4076	2	SCRIB	8	144893419	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	39891884	144893419	1470603	41	27904											
TMEM215	401498	broad.mit.edu	37	chr9	32784298	32784298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggggagactttgggaaaCatccccctcctggccatcgg	12	12	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:32784298C>T	ENST00000342743.5	+	2	482	c.117C>T	c.(115-117)aaC>aaT	p.N39N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	39						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTTTGGGAAACATCCCCCTCC	0.592																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(115-117)aaC>aaT		transmembrane protein 215							90	83	85					9																	32784298		2203	4300	6503	SO:0001819	synonymous_variant	401498					integral to membrane		g.chr9:32784298C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.117C>T	9.37:g.32784298C>T							p.N39N	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	482	+			39					Q6ZUU2	Silent	SNP	ENST00000342743.5	37	c.117C>T	CCDS6530.1																																																																																				0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		3	40	0	0	0	1	0	3	40					T	32784298	C	T	32784298	2	4	228	1	0	0	0	0	0	0	0	1	16135	477	17	2		2	TMEM215	9	32784298	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		32784298	108429133	42	27905											
BAAT	570	broad.mit.edu	37	chr9	104133578	104133578	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	catgtctccgttttcatcttCcagtgatgcctgaaaactca	6	12	4	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:104133578C>G	ENST00000395051.3	-	1	179	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	BAAT_ENST00000259407.2_Missense_Mutation_p.E37Q			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	37					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTTTCATCTTCCAGTGATGCC	0.478																																						ENST00000259407.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(109-111)Gaa>Caa		bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	Glycine(DB00145)						103	94	97					9																	104133578		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104133578C>G	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.109G>C	9.37:g.104133578C>G	ENSP00000378491:p.Glu37Gln					BAAT_ENST00000395051.3_Missense_Mutation_p.E37Q	p.E37Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN			2	217	-		Acute lymphoblastic leukemia(62;0.0559)	37					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.109G>C	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675497	0.29783	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.69685	-0.42;-0.42	4.41	-8.83	0.00806	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.245900	0.05654	N	0.585678	T	0.45577	0.1349	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.40924	-0.9537	10	0.48119	T	0.1	-3.5063	8.5633	0.33525	0.0:0.4312:0.3766:0.1922	.	37	Q14032	BAAT_HUMAN	Q	37	ENSP00000259407:E37Q;ENSP00000378491:E37Q	ENSP00000259407:E37Q	E	-	1	0	BAAT	103173399	0.000000	0.05858	0.167000	0.22817	0.872000	0.50106	-0.621000	0.05559	-2.142000	0.00804	-0.302000	0.09304	GAA		0.478	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			18	78	0	0	0	1	0	18	78					G	104133578	C	G	104133578	3	3	228	1	0	0	0	0	1	0	0	0	1280	864	30	4	1159	4	BAAT	9	104133578	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	71349280	104133578	37079853	43	27906											
LRRC8A	56262	broad.mit.edu	37	chr9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcggccaagattgaagCgcccgcgctggccttcctgc	12	16	0	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:131670897C>T	ENST00000259324.5	+	3	1977	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	485					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGATTGAAGCGCCCGCGCTG	0.612																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1453-1455)gCg>gTg		leucine rich repeat containing 8 family, member A							17	18	18					9																	131670897		2198	4294	6492	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670897C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1454C>T	9.37:g.131670897C>T	ENSP00000259324:p.Ala485Val					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V	p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1977	+			485					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1454C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183707	0.06340	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.22539	1.95;1.95;1.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	N	0.00300	-1.685	0.58432	D	0.999996	P	0.46859	0.885	B	0.31869	0.137	T	0.49513	-0.8932	10	0.15952	T	0.53	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	485	Q8IWT6	LRC8A_HUMAN	V	485	ENSP00000361682:A485V;ENSP00000361680:A485V;ENSP00000259324:A485V	ENSP00000259324:A485V	A	+	2	0	LRRC8A	130710718	1.000000	0.71417	0.969000	0.41365	0.081000	0.17604	6.089000	0.71384	2.595000	0.87683	0.561000	0.74099	GCG		0.612	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		11	19	0	0	0	1	0	11	19					T	131670897	C	T	131670897	3	4	228	1	0	0	0	0	1	0	0	0	9021	768	27	1	1456	1	LRRC8A	9	131670897	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	27537319	131670897	9542534	44	27907											
TSSC4	10078	broad.mit.edu	37	chr11	2424084	2424084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccgtcaggcctcctccCagccacggtgcagccattcc	8	21	1	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2424084C>T	ENST00000333256.6	+	3	664	c.221C>T	c.(220-222)cCa>cTa	p.P74L	TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	74										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)		GGCCTCCTCCCAGCCACGGTG	0.662																																						ENST00000333256.6																			0				endometrium(3)|large_intestine(1)|lung(4)	8						c.(220-222)cCa>cTa		tumor suppressing subtransferable candidate 4							29	26	27					11																	2424084		2195	4295	6490	SO:0001583	missense	10078							g.chr11:2424084C>T	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.221C>T	11.37:g.2424084C>T	ENSP00000331087:p.Pro74Leu					TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L	p.P74L			Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	3	664	+		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)	74					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.221C>T	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	2.478	-0.320366	0.05386	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000435795;ENST00000485682;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T;T;T	0.45276	2.26;2.46;0.9;1.48;0.94;0.95;1.93;1.49;2.46	2.74	-0.823	0.10815	.	1.350010	0.05724	U	0.598272	T	0.28532	0.0706	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.01;0.103	B;B	0.19391	0.015;0.025	T	0.28586	-1.0039	10	0.39692	T	0.17	0.0029	8.2913	0.31958	0.1397:0.4028:0.4575:0.0	.	74;10	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	L	10;74;10;74;74;74;10;74;74	ENSP00000370384:P10L;ENSP00000331087:P74L;ENSP00000370380:P10L;ENSP00000396925:P74L;ENSP00000403475:P74L;ENSP00000431430:P74L;ENSP00000416937:P10L;ENSP00000435013:P74L;ENSP00000411224:P74L	ENSP00000331087:P74L	P	+	2	0	TSSC4	2380660	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.290000	0.08354	0.042000	0.15717	0.313000	0.20887	CCA		0.662	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		3	5	0	0	0	1	0	3	5					T	2424084	C	T	2424084	3	4	228	1	0	0	0	0	1	0	0	0	16664	594	21	2	223	2	TSSC4	11	2424084	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2424084	132582432	45	27908											
TRPM5	29850	broad.mit.edu	37	chr11	2444189	2444189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctccaaagttgacctcGcccctgtgcaagcccagctc	8	18	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2444189G>A	ENST00000155858.6	-	1	86	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TRPM5_ENST00000452833.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G|TRPM5_ENST00000533060.1_Silent_p.G26G	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)		AGTTGACCTCGCCCCTGTGCA	0.657																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(76-78)ggC>ggT		transient receptor potential cation channel, subfamily M, member 5							72	68	70					11																	2444189		2202	4299	6501	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2444189G>A	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.78C>T	11.37:g.2444189G>A						TRPM5_ENST00000533060.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G|TRPM5_ENST00000155858.6_Silent_p.G26G	p.G26G			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	86	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	26						Silent	SNP	ENST00000155858.6	37	c.78C>T	CCDS31340.1																																																																																				0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		19	20	0	0	0	1	0	19	20					A	2444189	G	A	2444189	2	1	228	1	0	0	0	0	0	0	0	1	16586	1074	38	1		1	TRPM5	11	2444189	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20105	2444189	132562327	46	27909											
MICAL2	9645	broad.mit.edu	37	chr11	12281413	12281413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagttcttgcgcagtggcCgccattggcaccctggaagg	14	11	1	0	rs144667365		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:12281413C>T	ENST00000256194.4	+	26	3591	c.3303C>T	c.(3301-3303)gcC>gcT	p.A1101A	MICAL2_ENST00000537344.1_Silent_p.A911A|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000527546.1_Silent_p.A911A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3301-3303)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 2		C		1,4401	2.1+/-5.4	0,1,2200	45	45	45		3303	-9	0.1	11	dbSNP_134	45	0,8588		0,0,4294	no	coding-synonymous	MICAL2	NM_014632.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		1101/1125	12281413	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12281413C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3303C>T	11.37:g.12281413C>T						MICAL2_ENST00000527546.1_Silent_p.A911A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000379612.3_Silent_p.A875A	p.A1101A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	26	3591	+			1101					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.3303C>T	CCDS7809.1																																																																																				0.592	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		3	13	0	0	0	1	0	3	13					T	12281413	C	T	12281413	2	4	228	1	0	0	0	0	0	0	0	1	9570	639	23	1		1	MICAL2	11	12281413	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	9837224	12281413	122725103	47	27910											
OR5D18	219438	broad.mit.edu	37	chr11	55587765	55587765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgttctcacatcttatgcGttcattgttgtaaccatcct	5	11	3	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:55587765G>A	ENST00000333976.4	+	1	680	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A220A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483																																						ENST00000333976.4																			1	Substitution - coding silent(1)	p.A220A(1)	endometrium(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(658-660)gcG>gcA		olfactory receptor, family 5, subfamily D, member 18							184	152	163					11																	55587765		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587765G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.660G>A	11.37:g.55587765G>A							p.A220A	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	680	+		all_epithelial(135;0.208)	220					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.660G>A	CCDS31510.1																																																																																				0.483	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		15	81	0	0	0	1	0	15	81					A	55587765	G	A	55587765	2	1	228	1	0	0	0	0	0	0	0	1	11157	1132	40	1		1	OR5D18	11	55587765	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	43306352	55587765	79418751	48	27911											
MS4A4A	51338	broad.mit.edu	37	chr11	60064762	60064762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggaagtaaccctatttcCgtgtatatcgggtacacaat	8	8	0	0	rs374259384		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:60064762C>T	ENST00000337908.4	+	3	384	c.294C>T	c.(292-294)tcC>tcT	p.S98S	MS4A4A_ENST00000355131.3_Silent_p.S79S|MS4A4A_ENST00000532114.1_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	98						integral component of membrane (GO:0016021)		p.S79S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACCCTATTTCCGTGTATATCG	0.378																																						ENST00000355131.3																			1	Substitution - coding silent(1)	p.S79S(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(235-237)tcC>tcT		membrane-spanning 4-domains, subfamily A, member 4A		C	,	1,4405	2.1+/-5.4	0,1,2202	164	138	147		237,294	-7.7	0	11		147	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MS4A4A	NM_024021.3,NM_148975.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	79/221,98/240	60064762	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60064762C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"membrane-spanning 4-domains, subfamily A, member 4"	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.294C>T	11.37:g.60064762C>T						MS4A4A_ENST00000337908.4_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S|MS4A4A_ENST00000532114.1_Silent_p.S98S	p.S79S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			4	460	+			98					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.237C>T	CCDS7982.1																																																																																				0.378	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			10	46	0	0	0	1	0	10	46					T	60064762	C	T	60064762	2	4	228	1	0	0	0	0	0	0	0	1	9862	639	23	1		1	MS4A4A	11	60064762	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	4476997	60064762	74941754	49	27912											
NUMA1	4926	broad.mit.edu	37	chr11	71729545	71729545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgcgctgctgcatcaTggctatctgtgcatctgccc	10	13	4	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:71729545T>C	ENST00000393695.3	-	11	1088	c.757A>G	c.(757-759)Atg>Gtg	p.M253V	NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V|NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|RP11-849H4.4_ENST00000502284.1_RNA	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						TGCTGCATCATGGCTATCTGT	0.562			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				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						c.(757-759)Atg>Gtg		nuclear mitotic apparatus protein 1							51	48	49					11																	71729545		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729545T>C	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.757A>G	11.37:g.71729545T>C	ENSP00000377298:p.Met253Val					NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V	p.M253V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			11	1088	-			253						Missense_Mutation	SNP	ENST00000393695.3	37	c.757A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	3.402	-0.122087	0.06795	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.42900	2.29;2.75;2.75;1.53;0.96	5.36	-8.11	0.01082	.	0.830910	0.11106	N	0.599129	T	0.19525	0.0469	N	0.12182	0.205	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	0.04013	0.001;0.0;0.0;0.0;0.0;0.0	T	0.18555	-1.0333	10	0.30078	T	0.28	.	11.8763	0.52550	0.0:0.5785:0.2156:0.2059	.	253;253;253;253;253;253	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	V	253	ENSP00000260051:M253V;ENSP00000351851:M253V;ENSP00000377298:M253V;ENSP00000444880:M253V;ENSP00000442936:M253V	ENSP00000260051:M253V	M	-	1	0	NUMA1	71407193	0.000000	0.05858	0.007000	0.13788	0.081000	0.17604	-1.371000	0.02573	-1.514000	0.01786	-0.408000	0.06270	ATG		0.562	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	27	0	0	0	1	0	4	27					C	71729545	T	C	71729545	3	2	228	1	0	0	0	0	1	0	0	0	10750	1464	51	3	5658	3	NUMA1	11	71729545	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	11664783	71729545	63276971	50	27913											
OR6C74	254783	broad.mit.edu	37	chr12	55641906	55641907	+	Frame_Shift_Ins	INS	-	-	T													agctctgctcagcacttctgINSttgcccccatgttgaatccc							TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:55641906_55641907insT	ENST00000343870.4	+	1	925_926	c.835_836insT	c.(835-837)gttfs	p.V279fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	279						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						CAGCACTTCTGTTGCCCCCATG	0.371																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(835-837)tgcfs		olfactory receptor, family 6, subfamily C, member 74																																				SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641906_55641907insT		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.837dupT	12.37:g.55641908_55641908dupT	ENSP00000342836:p.Val279fs						p.C279fs	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	925_926	+			279						Frame_Shift_Ins	INS	ENST00000343870.4	37	c.835_836insT	CCDS31816.1																																																																																				0.371	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			19	42						19	42	---	---	---	---	T	55641907	-	T	55641906	7	5	228	1	0	1	1	0	0	0	0	0	11198	1377	48	0	837	0	OR6C74	12	55641906	Frame_Shift_Ins	INS	-	TCGA-FG-A87Q-01A-11D-A36O-08		55641906	78209989	51	27914											
ACACB	32	broad.mit.edu	37	chr12	109604740	109604740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcacagagactttaCcgtggcttctcccgctgagt	11	13	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:109604740C>A	ENST00000338432.7	+	3	847	c.728C>A	c.(727-729)aCc>aAc	p.T243N	ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	243					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)	AGAGACTTTACCGTGGCTTCT	0.587																																						ENST00000338432.7																			0				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						c.(727-729)aCc>aAc		acetyl-CoA carboxylase beta	Biotin(DB00121)						91	83	86					12																	109604740		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109604740C>A	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.728C>A	12.37:g.109604740C>A	ENSP00000341044:p.Thr243Asn					ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N	p.T243N			O00763	ACACB_HUMAN			3	847	+			243					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.728C>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601814	0.46423	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.17528	2.27;2.27;2.27	5.31	5.31	0.75309	PreATP-grasp-like fold (1);	0.195738	0.52532	D	0.000066	T	0.18509	0.0444	L	0.37850	1.14	0.80722	D	1	B	0.26512	0.151	B	0.31442	0.13	T	0.03993	-1.0986	10	0.29301	T	0.29	.	18.5903	0.91208	0.0:1.0:0.0:0.0	.	243	O00763	ACACB_HUMAN	N	243	ENSP00000341044:T243N;ENSP00000367079:T243N;ENSP00000367085:T243N	ENSP00000341044:T243N	T	+	2	0	ACACB	108089123	1.000000	0.71417	0.551000	0.28230	0.268000	0.26511	7.741000	0.84997	2.470000	0.83445	0.491000	0.48974	ACC		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	44	1	0	0.00909568	1	0.00919142	4	44					A	109604740	C	A	109604740	3	1	228	1	0	0	0	0	1	0	0	0	107	507	18	4	734	4	ACACB	12	109604740	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	53962834	109604740	24247155	52	27915											
OR4Q3	441669	broad.mit.edu	37	chr14	20216301	20216301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccagaacaaggtcttcTctacctgtgcttctcacctg	9	13	3	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:20216301T>C	ENST00000331723.1	+	1	715	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	239						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(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGTCTTCTCTACCTGTGC	0.468																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(715-717)Tct>Cct		olfactory receptor, family 4, subfamily Q, member 3							164	151	155					14																	20216301		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216301T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.715T>C	14.37:g.20216301T>C	ENSP00000330049:p.Ser239Pro						p.S239P	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	715	+	all_cancers(95;0.00108)		239					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.715T>C	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	11.74	1.728967	0.30684	.	.	ENSG00000182652	ENST00000331723	T	0.00309	8.16	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39909	U	0.001229	T	0.01156	0.0038	H	0.98005	4.125	0.30357	N	0.784198	D	0.89917	1.0	D	0.85130	0.997	T	0.01390	-1.1367	10	0.87932	D	0	.	11.0806	0.48057	0.0:0.0:0.0:1.0	.	239	Q8NH05	OR4Q3_HUMAN	P	239	ENSP00000330049:S239P	ENSP00000330049:S239P	S	+	1	0	OR4Q3	19286141	0.016000	0.18221	0.999000	0.59377	0.111000	0.19643	1.416000	0.34759	1.710000	0.51325	0.416000	0.27883	TCT		0.468	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			24	51	0	0	0	1	0	24	51					C	20216301	T	C	20216301	3	2	228	1	0	0	0	0	1	0	0	0	11081	1551	54	3	717	3	OR4Q3	14	20216301	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08		20216301	87133239	53	27916											
RTN1	6252	broad.mit.edu	37	chr14	60194231	60194231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggggatggttggcggtcCggacctggccttgacctcgg	18	11	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:60194231C>T	ENST00000267484.5	-	3	1506	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	391					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1171-1173)Gga>Aga		reticulon 1							16	16	16					14																	60194231		2197	4293	6490	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60194231C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1171G>A	14.37:g.60194231C>T	ENSP00000267484:p.Gly391Arg						p.G391R	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1506	-			391					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1171G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922169	0.33908	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.25085	1.82	5.49	5.49	0.81192	.	0.273877	0.36268	N	0.002698	T	0.31918	0.0812	M	0.72894	2.215	0.36677	D	0.878845	D	0.65815	0.995	P	0.46320	0.512	T	0.31336	-0.9947	10	0.20046	T	0.44	.	12.6726	0.56876	0.0:0.9243:0.0:0.0756	.	391	Q16799	RTN1_HUMAN	R	391;317	ENSP00000267484:G391R	ENSP00000267484:G391R	G	-	1	0	RTN1	59263984	0.950000	0.32346	0.962000	0.40283	0.170000	0.22686	3.139000	0.50577	2.580000	0.87095	0.655000	0.94253	GGA		0.672	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			4	9	0	0	0	1	0	4	9					T	60194231	C	T	60194231	3	4	228	1	0	0	0	0	1	0	0	0	13725	661	23	1	1252	1	RTN1	14	60194231	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	39977930	60194231	47155309	54	27917											
AHNAK2	113146	broad.mit.edu	37	chr14	105419205	105419205	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcacgtcggcctccaccttCggcgcagacacatccaccga	8	19	1	1	rs560264039		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:105419205C>T	ENST00000333244.5	-	7	2702	c.2583G>A	c.(2581-2583)ccG>ccA	p.P861P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	861						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)			CCTCCACCTTCGGCGCAGACA	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		18197	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2581-2583)ccG>ccA		AHNAK nucleoprotein 2							172	192	185					14																	105419205		1960	4137	6097	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419205C>T	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.2583G>A	14.37:g.105419205C>T						AHNAK2_ENST00000557457.1_Intron	p.P861P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2702	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	861					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2583G>A	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		82	221	0	0	0	1	0	82	221					T	105419205	C	T	105419205	2	4	228	1	0	0	0	0	0	0	0	1	415	871	31	1		1	AHNAK2	14	105419205	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45224974	105419205	1930335	55	27918											
CASC4	113201	broad.mit.edu	37	chr15	44705563	44705563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aacgagagcttcaaatggatCctgcagactatggaaagcaa	10	8	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:44705563C>G	ENST00000345795.2	+	9	1372	c.1102C>G	c.(1102-1104)Cct>Gct	p.P368A	CASC4_ENST00000299957.6_Missense_Mutation_p.P424A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	370						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAATGGATCCTGCAGACTA	0.318																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(1270-1272)Cct>Gct		cancer susceptibility candidate 4							66	65	65					15																	44705563		2198	4297	6495	SO:0001583	missense	113201					integral to membrane		g.chr15:44705563C>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.1102C>G	15.37:g.44705563C>G	ENSP00000335063:p.Pro368Ala					CASC4_ENST00000345795.2_Missense_Mutation_p.P368A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	p.P424A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	10	1569	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	199					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.1270C>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240027	0.39598	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.81	4.81	0.61882	.	0.414483	0.26840	N	0.022235	T	0.58004	0.2092	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.982;0.99	P;D	0.63703	0.831;0.917	T	0.51124	-0.8745	9	0.13108	T	0.6	.	16.0836	0.81023	0.0:1.0:0.0:0.0	.	368;424	Q6P4E1-2;G5E934	.;.	A	424;368;403	.	ENSP00000299957:P424A	P	+	1	0	CASC4	42492855	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.759000	0.47573	2.401000	0.81631	0.644000	0.83932	CCT		0.318	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		4	31	0	0	0	1	0	4	31					G	44705563	C	G	44705563	3	3	228	1	0	0	0	0	1	0	0	0	2662	855	30	4	1308	4	CASC4	15	44705563	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		44705563	57825829	56	27919											
ZNF609	23060	broad.mit.edu	37	chr15	64970400	64970400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcggtggaaggaggagcGggaccgcaaattgaaggagg	20	5	0	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:64970400G>A	ENST00000326648.3	+	5	3616	c.3488G>A	c.(3487-3489)cGg>cAg	p.R1163Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						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						AAGGAGGAGCGGGACCGCAAA	0.527																																						ENST00000326648.3																			0				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						c.(3487-3489)cGg>cAg		zinc finger protein 609							73	59	64					15																	64970400		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64970400G>A	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.3488G>A	15.37:g.64970400G>A	ENSP00000316527:p.Arg1163Gln						p.R1163Q	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			5	3616	+			1163					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.3488G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.388995	0.95988	.	.	ENSG00000180357	ENST00000326648	T	0.52754	0.65	5.44	5.44	0.79542	.	0.055458	0.64402	D	0.000001	T	0.65112	0.2660	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	T	0.61073	-0.7136	10	0.33141	T	0.24	-11.1133	19.2633	0.93977	0.0:0.0:1.0:0.0	.	1163	O15014	ZN609_HUMAN	Q	1163	ENSP00000316527:R1163Q	ENSP00000316527:R1163Q	R	+	2	0	ZNF609	62757453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.529000	0.73812	2.537000	0.85549	0.650000	0.86243	CGG		0.527	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		12	30	0	0	0	1	0	12	30					A	64970400	G	A	64970400	3	1	228	1	0	0	0	0	1	0	0	0	18032	1116	39	1	3506	1	ZNF609	15	64970400	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20264837	64970400	37560992	57	27920											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164512	85164512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactggagaaaagccctaCgaatgtaaagaatgcggcga	11	9	0	2	rs368304150		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:85164512C>T	ENST00000448803.2	+	3	1378	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.Y362Y	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	362					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)			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)		AAAAGCCCTACGAATGTAAAG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18445	0.0		0.0	False		,,,				2504	0.001					ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1084-1086)taC>taT		zinc finger and SCAN domain containing 2		C		0,4406		0,0,2203	132	138	136		1086	-3.6	0.1	15		136	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZSCAN2	NM_181877.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		362/615	85164512	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164512C>T	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.1086C>T	15.37:g.85164512C>T						ZSCAN2_ENST00000546148.1_Silent_p.Y362Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y	p.Y362Y	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1378	+			362					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1086C>T	CCDS10329.2																																																																																				0.493	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		42	96	0	0	0	1	0	42	96					T	85164512	C	T	85164512	2	4	228	1	0	0	0	0	0	0	0	1	18228	547	19	1		1	ZSCAN2	15	85164512	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	20194112	85164512	17366880	58	27921											
ABCA3	21	broad.mit.edu	37	chr16	2376171	2376171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccgggtagatggtggcGttgggcacattttccgactg	16	9	0	1	rs191085051	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:2376171G>A	ENST00000301732.5	-	5	859	c.159C>T	c.(157-159)aaC>aaT	p.N53N	ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	53					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)	AGATGGTGGCGTTGGGCACAT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		19389	0.0		0.002	False		,,,				2504	0.0					ENST00000301732.5																			0				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						c.(157-159)aaC>aaT		ATP-binding cassette, sub-family A (ABC1), member 3							86	84	84					16																	2376171		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2376171G>A	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.159C>T	16.37:g.2376171G>A						ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			5	859	-		Ovarian(90;0.17)	53					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.159C>T	CCDS10466.1																																																																																				0.572	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	27	0	0	0	1	0	10	27					A	2376171	G	A	2376171	2	1	228	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2376171	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08		2376171	87978582	59	27922											
CD19	930	broad.mit.edu	37	chr16	28944769	28944769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctcaagacgctggaaaGtattattgtcaccgtggcaa	10	9	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:28944769G>A	ENST00000324662.3	+	4	818	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CD19_ENST00000567541.1_Silent_p.K258K|CD19_ENST00000538922.1_Silent_p.K258K			P15391	CD19_HUMAN	CD19 molecule	258	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACGCTGGAAAGTATTATTGTC	0.562																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(772-774)aaG>aaA		CD19 molecule							70	63	65					16																	28944769		2197	4300	6497	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28944769G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.774G>A	16.37:g.28944769G>A						CD19_ENST00000567541.1_Silent_p.K258K|CD19_ENST00000324662.3_Silent_p.K258K	p.K258K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			4	836	+			258			Ig-like C2-type 2.		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.774G>A	CCDS10644.1																																																																																				0.562	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			13	19	0	0	0	1	0	13	19					A	28944769	G	A	28944769	2	1	228	1	0	0	0	0	0	0	0	1	2973	1020	36	2		2	CD19	16	28944769	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	26568598	28944769	61409984	60	27923											
ZNF764	92595	broad.mit.edu	37	chr16	30567015	30567015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgaagtcagcgccgagcGctgcgtgaaggcccggccac	16	14	1	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:30567015G>A	ENST00000252797.2	-	3	807	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Missense_Mutation_p.R242C	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	243					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						AGCGCCGAGCGCTGCGTGAAG	0.687																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(724-726)Cgc>Tgc		zinc finger protein 764							11	13	12					16																	30567015		2180	4272	6452	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567015G>A	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.727C>T	16.37:g.30567015G>A	ENSP00000252797:p.Arg243Cys					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R243C	p.R242C			Q96H86	ZN764_HUMAN			3	1039	-			243					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.724C>T	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325909	0.41197	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.08634	3.07;3.07	4.62	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35805	N	0.002978	T	0.20780	0.0500	L	0.55743	1.74	0.35953	D	0.834069	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.93	T	0.04961	-1.0915	10	0.36615	T	0.2	-30.7423	10.151	0.42794	0.0:0.0:0.6863:0.3137	.	242;243	B3KSN2;Q96H86	.;ZN764_HUMAN	C	243;242	ENSP00000252797:R243C;ENSP00000378526:R242C	ENSP00000252797:R243C	R	-	1	0	ZNF764	30474516	0.000000	0.05858	1.000000	0.80357	0.085000	0.17905	-0.105000	0.10907	2.384000	0.81235	0.563000	0.77884	CGC		0.687	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		3	4	0	0	0	1	0	3	4					A	30567015	G	A	30567015	3	1	228	1	0	0	0	0	1	0	0	0	18135	1087	38	1	503	1	ZNF764	16	30567015	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	1622246	30567015	59787738	61	27924											
BAHCC1	57597	broad.mit.edu	37	chr17	79409603	79409603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagggccgccccttccagGccgccgaggcctgtgccgtg	14	17	0	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr17:79409603G>A	ENST00000307745.7	+	9	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T																								CCCCTTCCAGGCCGCCGAGGC	0.701																																						ENST00000307745.7																			0											c.(1228-1230)Gcc>Acc									12	15	14					17																	79409603		1914	4051	5965	SO:0001583	missense	0							g.chr17:79409603G>A																												ENST00000307745.7:c.1228G>A	17.37:g.79409603G>A	ENSP00000303486:p.Ala410Thr						p.A410T							9	1228	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1228G>A		.	.	.	.	.	.	.	.	.	.	g	13.99	2.402936	0.42613	.	.	ENSG00000171282	ENST00000307745	T	0.12147	2.71	4.01	4.01	0.46588	.	.	.	.	.	T	0.11665	0.0284	N	0.24115	0.695	0.21740	N	0.999566	B	0.12630	0.006	B	0.08055	0.003	T	0.17048	-1.0382	9	0.52906	T	0.07	.	15.114	0.72384	0.0:0.0:1.0:0.0	.	410	Q9P281	BAHC1_HUMAN	T	410	ENSP00000303486:A410T	ENSP00000303486:A410T	A	+	1	0	AC110285.1	77024198	0.867000	0.29959	0.737000	0.30932	0.294000	0.27393	1.530000	0.36007	2.101000	0.63845	0.282000	0.19409	GCC		0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	7	0	0	0	1	0	3	7					A	79409603	G	A	79409603	3	1	228	1	0	0	0	0	1	0	0	0	1296	1203	42	2	1077	2	BAHCC1	17	79409603	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08		79409603	1785607	62	27925											
DSC2	1824	broad.mit.edu	37	chr18	28662324	28662324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagcagtattcactaagtcCttatcctcaacagtaactcg	5	11	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:28662324C>T	ENST00000280904.6	-	9	1586	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC2_ENST00000251081.6_Silent_p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1141-1143)aaG>aaA		desmocollin 2							97	93	94					18																	28662324		2202	4299	6501	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662324C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1143G>A	18.37:g.28662324C>T						DSC2_ENST00000251081.6_Silent_p.K381K	p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1586	-			381			Cadherin 3.			Silent	SNP	ENST00000280904.6	37	c.1143G>A	CCDS11892.1																																																																																				0.318	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		26	73	0	0	0	1	0	26	73					T	28662324	C	T	28662324	2	4	228	1	0	0	0	0	0	0	0	1	4766	680	24	2		2	DSC2	18	28662324	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		28662324	49414924	63	27926											
ME2	4200	broad.mit.edu	37	chr18	48439304	48439304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcccagtatggacacAtctttagaagacctaagtaa	7	11	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:48439304A>C	ENST00000321341.5	+	4	648	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	ME2_ENST00000382927.3_Missense_Mutation_p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	126					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GTATGGACACATCTTTAGAAG	0.328																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(376-378)Atc>Ctc		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						123	123	123					18																	48439304		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439304A>C	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.376A>C	18.37:g.48439304A>C	ENSP00000321070:p.Ile126Leu					ME2_ENST00000382927.3_Missense_Mutation_p.I126L	p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	648	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	126					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.376A>C	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626517	0.66901	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.41400	1.0;1.0	5.37	5.37	0.77165	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	L	0.42744	1.35	0.80722	D	1	B;B	0.25955	0.001;0.138	B;P	0.49799	0.04;0.622	T	0.60151	-0.7319	10	0.72032	D	0.01	-11.3523	14.6478	0.68772	1.0:0.0:0.0:0.0	.	126;126	Q9BWL6;P23368	.;MAOM_HUMAN	L	126	ENSP00000321070:I126L;ENSP00000372384:I126L	ENSP00000321070:I126L	I	+	1	0	ME2	46693302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.197000	0.65141	2.154000	0.67381	0.533000	0.62120	ATC		0.328	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		25	52	0	0	0	1	0	25	52					C	48439304	A	C	48439304	3	2	228	1	0	0	0	0	1	0	0	0	9418	217	8	5	386	5	ME2	18	48439304	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	19776980	48439304	29637944	64	27927											
THOP1	7064	broad.mit.edu	37	chr19	2799775	2799775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaccttcctgcccttcaCgctccaggagctaggtaggg	11	15	1	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:2799775C>T	ENST00000307741.6	+	5	778	c.575C>T	c.(574-576)aCg>aTg	p.T192M	THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	192					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTGCCCTTCACGCTCCAGGAG	0.612																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(574-576)aCg>aTg		thimet oligopeptidase 1							126	91	103					19																	2799775		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2799775C>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.575C>T	19.37:g.2799775C>T	ENSP00000304467:p.Thr192Met					THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	p.T192M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		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)	5	778	+			192					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.575C>T	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684842	0.47991	.	.	ENSG00000172009	ENST00000307741	T	0.08984	3.03	4.32	3.28	0.37604	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.372037	0.29342	N	0.012440	T	0.12178	0.0296	M	0.69248	2.105	0.80722	D	1	D;D	0.67145	0.996;0.992	B;B	0.44108	0.441;0.363	T	0.04005	-1.0985	10	0.52906	T	0.07	-24.5849	11.1655	0.48541	0.0:0.9072:0.0:0.0928	.	71;192	B4DU96;P52888	.;THOP1_HUMAN	M	192	ENSP00000304467:T192M	ENSP00000304467:T192M	T	+	2	0	THOP1	2750775	0.997000	0.39634	0.073000	0.20177	0.093000	0.18481	3.584000	0.53936	0.819000	0.34492	-0.234000	0.12200	ACG		0.612	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			14	58	0	0	0	1	0	14	58					T	2799775	C	T	2799775	3	4	228	1	0	0	0	0	1	0	0	0	15868	536	19	1	593	1	THOP1	19	2799775	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2799775	56329208	65	27928											
TMEM146	257062	broad.mit.edu	37	chr19	5772949	5772949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaccatgataaaggaattCggggggcccttcttctggaa	11	10	2	1	rs200017232		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:5772949C>T	ENST00000381624.3	+	20	1975	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	638					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)		p.F638F(1)									TAAAGGAATTCGGGGGGCCCT	0.577																																						ENST00000381624.3																			1	Substitution - coding silent(1)	p.F638F(1)	upper_aerodigestive_tract(1)								c.(1912-1914)ttC>ttT		catsper channel auxiliary subunit delta							48	51	50					19																	5772949		1903	4111	6014	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5772949C>T	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.1914C>T	19.37:g.5772949C>T						CATSPERD_ENST00000309164.7_3'UTR	p.F638F	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			20	1975	+			638					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1914C>T	CCDS12149.2																																																																																				0.577	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		6	35	0	0	0	1	0	6	35					T	5772949	C	T	5772949	2	4	228	1	0	0	0	0	0	0	0	1	16057	883	31	1		1	TMEM146	19	5772949	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	2973174	5772949	53356034	66	27929											
ZNF560	147741	broad.mit.edu	37	chr19	9577519	9577519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttggtgagagtttttaagcGatcatgaaagcacatggaat	11	4	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:9577519G>A	ENST00000301480.4	-	10	2317	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	702					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(2104-2106)Cgc>Tgc		zinc finger protein 560							131	130	130					19																	9577519		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577519G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2104C>T	19.37:g.9577519G>A	ENSP00000301480:p.Arg702Cys						p.R702C	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	2317	-			702					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.2104C>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	8.502	0.864502	0.17250	.	.	ENSG00000198028	ENST00000301480	T	0.15256	2.44	1.5	0.421	0.16451	.	.	.	.	.	T	0.15565	0.0375	L	0.55213	1.73	0.20307	N	0.999919	B	0.06786	0.001	B	0.04013	0.001	T	0.26815	-1.0092	9	0.72032	D	0.01	.	6.0848	0.19960	0.1867:0.0:0.8133:0.0	.	702	Q96MR9	ZN560_HUMAN	C	702	ENSP00000301480:R702C	ENSP00000301480:R702C	R	-	1	0	ZNF560	9438519	0.004000	0.15560	0.000000	0.03702	0.005000	0.04900	0.453000	0.21811	0.190000	0.20209	-0.448000	0.05591	CGC		0.378	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		33	103	0	0	0	1	0	33	103					A	9577519	G	A	9577519	3	1	228	1	0	0	0	0	1	0	0	0	17988	1058	37	1	272	1	ZNF560	19	9577519	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	3804570	9577519	49551464	67	27930											
CD22	933	broad.mit.edu	37	chr19	35837090	35837090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgcagagacctcccccGgactgcgatgacacggtcac	12	14	1	3	rs530650512		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:35837090G>A	ENST00000085219.5	+	13	2430	c.2364G>A	c.(2362-2364)ccG>ccA	p.P788P	MIR5196_ENST00000578146.1_RNA|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P|CD22_ENST00000544992.2_Missense_Mutation_p.G749R|CD22_ENST00000270311.6_Silent_p.P603P|CD22_ENST00000419549.2_Silent_p.P616P|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)	ENST00000544992.2																			0				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						c.(2245-2247)Gga>Aga		CD22 molecule	OspA lipoprotein(DB00045)						109	94	99					19																	35837090		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35837090G>A	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						CD22_ENST00000419549.2_Silent_p.P616P|CD22_ENST00000341773.6_Silent_p.P611P|CD22_ENST00000085219.5_Silent_p.P788P|CD22_ENST00000270311.6_Silent_p.P603P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P	p.G749R			P20273	CD22_HUMAN	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)		12	2286	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		0					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2245G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	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		0.587	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	19	0	0	0	1	0	7	19					A	35837090	G	A	35837090	2	1	228	1	0	0	0	0	0	0	0	1	2985	1117	39	1		1	CD22	19	35837090	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	26259571	35837090	23291893	68	27931											
CST4	1472	broad.mit.edu	37	chr20	23669406	23669406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctcgcagcacctgcagCgggcgtctgtagtactcatc	12	14	2	0	rs191660510	byFrequency	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:23669406C>T	ENST00000217423.3	-	1	271	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	67					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACCTGCAGCGGGCGTCTGT	0.597													.|||	3	0.000599042	0.0015	0.0014	5008	,	,		17260	0.0		0.0	False		,,,				2504	0.0					ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(199-201)ccG>ccA		cystatin S		C		1,4405	2.1+/-5.4	0,1,2202	93	85	87		201	-3.4	0	20		87	0,8600		0,0,4300	no	coding-synonymous	CST4	NM_001899.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		67/142	23669406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23669406C>T		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.201G>A	20.37:g.23669406C>T							p.P67P	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			1	271	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		67					Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.201G>A	CCDS13159.1																																																																																				0.597	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		8	37	0	0	0	1	0	8	37					T	23669406	C	T	23669406	2	4	228	1	0	0	0	0	0	0	0	1	3974	755	27	1		1	CST4	20	23669406	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		23669406	39356114	69	27932											
CABLES2	81928	broad.mit.edu	37	chr20	60966137	60966137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaccctatcaggtcgcGcctgttgaatcgaaaccttt	7	13	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:60966137G>A	ENST00000279101.5	-	10	1335	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCAGGTCGCGCCTGTTGAAT	0.557																																						ENST00000279101.5																			0				endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11						c.(1327-1329)Cgc>Tgc		Cdk5 and Abl enzyme substrate 2							133	137	135					20																	60966137		2203	4300	6503	SO:0001583	missense	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966137G>A	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 150"	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1327C>T	20.37:g.60966137G>A	ENSP00000279101:p.Arg443Cys						p.R443C	NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		10	1335	-	Breast(26;2.05e-08)		443					Q5JWL0|Q9BYK0	Missense_Mutation	SNP	ENST00000279101.5	37	c.1327C>T	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449883	0.43531	.	.	ENSG00000149679	ENST00000370560;ENST00000279101	T	0.18016	2.24	5.42	0.648	0.17801	Cyclin, N-terminal (1);Cyclin-like (3);	0.054387	0.64402	D	0.000001	T	0.33235	0.0856	M	0.72894	2.215	0.52501	D	0.999951	D	0.76494	0.999	D	0.65140	0.932	T	0.06899	-1.0801	10	0.87932	D	0	-19.4305	9.2388	0.37484	0.0787:0.0:0.3966:0.5246	.	443	Q9BTV7	CABL2_HUMAN	C	231;443	ENSP00000279101:R443C	ENSP00000279101:R443C	R	-	1	0	CABLES2	60399532	1.000000	0.71417	0.180000	0.23079	0.150000	0.21749	1.785000	0.38684	0.227000	0.20999	0.650000	0.86243	CGC		0.557	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		13	34	0	0	0	1	0	13	34					A	60966137	G	A	60966137	3	1	228	1	0	0	0	0	1	0	0	0	2530	1087	38	1	113	1	CABLES2	20	60966137	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	37296731	60966137	2059383	70	27933											
NOL12	79159	broad.mit.edu	37	chr22	38082445	38082445	+	Frame_Shift_Del	DEL	C	C	-													gagatggtgacgaccggcggCcgaggctcgttcttagcttc							TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:38082445delC	ENST00000359114.4	+	1	116	c.46delC	c.(46-48)ccgfs	p.P16fs	NOL12_ENST00000493862.1_Intron	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	16						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CGACCGGCGGCCGAGGCTCGT	0.627																																						ENST00000359114.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(46-48)cgfs		nucleolar protein 12							35	35	35					22																	38082445		2203	4300	6503	SO:0001589	frameshift_variant	79159					nucleolus	rRNA binding	g.chr22:38082445delC	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.46delC	22.37:g.38082445delC	ENSP00000352021:p.Pro16fs					RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_Intron	p.P16fs	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			1	116	+	Melanoma(58;0.0574)		16						Frame_Shift_Del	DEL	ENST00000359114.4	37	c.46delC	CCDS13955.1																																																																																				0.627	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		2	4						2	4	---	---	---	---	-	38082445	C	-	38082445	7	5	228	1	0	1	0	1	0	0	0	0	10522	739	26	0	48	0	NOL12	22	38082445	Frame_Shift_Del	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08		38082445	13222121	71	27934											
CELSR1	9620	broad.mit.edu	37	chr22	46859990	46859990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggacgccgccaggcAgcagcgccgagaaggtcacg	17	15	1	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:46859990A>G	ENST00000262738.3	-	2	3796	c.3797T>C	c.(3796-3798)cTg>cCg	p.L1266P	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1266					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)		GCCGCCAGGCAGCAGCGCCGA	0.632																																						ENST00000262738.3																			0				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						c.(3796-3798)cTg>cCg		cadherin, EGF LAG seven-pass G-type receptor 1							73	74	74					22																	46859990		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859990A>G	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.3797T>C	22.37:g.46859990A>G	ENSP00000262738:p.Leu1266Pro					CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3796	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1266					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3797T>C	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.822|9.822	1.185999|1.185999	0.21870|0.21870	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000454637|ENST00000262738;ENST00000395964	.|T;T	.|0.68624	.|-0.34;-0.04	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.107349	.|0.37669	.|U	.|0.001989	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.65815	.|0.995	.|P	.|0.56788	.|0.806	T|T	0.67309|0.67309	-0.5703|-0.5703	5|10	.|0.35671	.|T	.|0.21	.|.	14.123|14.123	0.65201|0.65201	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1266	.|Q9NYQ6	.|CELR1_HUMAN	R|P	641|1266	.|ENSP00000262738:L1266P;ENSP00000379293:L1266P	.|ENSP00000262738:L1266P	C|L	-|-	1|2	0|0	CELSR1|CELSR1	45238654|45238654	1.000000|1.000000	0.71417|0.71417	0.910000|0.910000	0.35882|0.35882	0.671000|0.671000	0.39405|0.39405	5.241000|5.241000	0.65384|0.65384	1.817000|1.817000	0.53016|0.53016	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		16	48	0	0	0	1	0	16	48					G	46859990	A	G	46859990	3	3	228	1	0	0	0	0	1	0	0	0	3221	188	7	3	5383	3	CELSR1	22	46859990	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	8777545	46859990	4444576	72	27935											
ASB9	140462	broad.mit.edu	37	chrX	15287957	15287957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagtcccttggccccgCgggcttgctcccatccatgc	11	16	0	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:15287957C>T	ENST00000380488.4	-	1	313	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000546332.1_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.A14T	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	14					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTGGCCCCGCGGGCTTGCTC	0.562													C|||	1	0.000264901	0.0	0.0	3775	,	,		13825	0.001		0.0	False		,,,				2504	0.0					ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(40-42)Gcg>Acg		ankyrin repeat and SOCS box containing 9							104	83	90					X																	15287957		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15287957C>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.40G>A	X.37:g.15287957C>T	ENSP00000369855:p.Ala14Thr					ASB9_ENST00000380483.3_Missense_Mutation_p.A14T|ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.A14T	p.A14T	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			2	523	-	Hepatocellular(33;0.183)		14					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.40G>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.500	0.460457	0.12342	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.66280	1.0;-0.2;-0.15;-0.2	5.29	1.58	0.23477	.	9.439780	0.00166	N	0.000000	T	0.37128	0.0992	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.10296	0.0;0.002;0.001;0.003	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.32534	-0.9903	10	0.59425	D	0.04	3.8077	4.5544	0.12130	0.2875:0.1663:0.5462:0.0	.	14;14;14;14	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	T	14	ENSP00000369850:A14T;ENSP00000369852:A14T;ENSP00000369855:A14T;ENSP00000438943:A14T	ENSP00000369850:A14T	A	-	1	0	ASB9	15197878	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.433000	0.21477	-0.102000	0.12197	-0.384000	0.06662	GCG		0.562	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			4	25	0	0	0	1	0	4	25					T	15287957	C	T	15287957	3	4	228	1	0	0	0	0	1	0	0	0	1030	768	27	1	901	1	ASB9	23	15287957	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		15287957	139982603	73	27936											
RPS6KA3	6197	broad.mit.edu	37	chrX	20227405	20227405	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcacacactcatgacttaCctttccaaatgatccctgcc	4	15	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:20227405C>A	ENST00000379565.3	-	3	451		c.e3+1		RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site|RPS6KA3_ENST00000544447.1_Splice_Site	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3						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)	TCATGACTTACCTTTCCAAAT	0.338																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.e3+1		ribosomal protein S6 kinase, 90kDa, polypeptide 3							164	127	139					X																	20227405		2203	4300	6503	SO:0001630	splice_region_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20227405C>A	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.243+1G>T	X.37:g.20227405C>A						RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000544447.1_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site		NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			3	451	-								B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Splice_Site	SNP	ENST00000379565.3	37		CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.807964	0.70797	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145;ENST00000438357	.	.	.	5.18	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2828	0.60226	0.16:0.84:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA3	20137326	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.560000	0.82277	1.061000	0.40601	0.513000	0.50165	.		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	Intron	39	97	1	0	3.61848e-18	1	3.94743e-18	39	97					A	20227405	C	A	20227405	5	1	228	1	0	0	0	0	0	0	1	0	13652	521	18	4	2058	4	RPS6KA3	23	20227405	Splice_Site	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	4939448	20227405	135043155	74	27937											
PTCHD1	139411	broad.mit.edu	37	chrX	23397847	23397847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagctaaagaatgctcGggccaccaatcggaccaatt	11	10	0	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:23397847G>A	ENST00000379361.4	+	2	1351	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	164					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						AAGAATGCTCGGGCCACCAAT	0.473																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(490-492)cGg>cAg		patched domain containing 1							99	84	89					X																	23397847		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397847G>A	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.491G>A	X.37:g.23397847G>A	ENSP00000368666:p.Arg164Gln						p.R164Q	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1351	+			164					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.491G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734018	0.89482	.	.	ENSG00000165186	ENST00000379361	D	0.85861	-2.04	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85826	0.5787	L	0.40543	1.245	0.53688	D	0.999971	D;B	0.76494	0.999;0.443	P;B	0.56700	0.804;0.146	T	0.81841	-0.0747	10	0.12766	T	0.61	.	17.8115	0.88617	0.0:0.0:1.0:0.0	.	59;164	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Q	164	ENSP00000368666:R164Q	ENSP00000368666:R164Q	R	+	2	0	PTCHD1	23307768	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.166000	0.94766	2.483000	0.83821	0.600000	0.82982	CGG		0.473	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		17	66	0	0	0	1	0	17	66					A	23397847	G	A	23397847	3	1	228	1	0	0	0	0	1	0	0	0	12732	1116	39	1	497	1	PTCHD1	23	23397847	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	3170442	23397847	131872713	75	27938											
CCNB3	85417	broad.mit.edu	37	chrX	50054451	50054451	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgcatgtgaatctgcTtctgataaacctgtctcacc	7	12	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:50054451T>A	ENST00000376042.1	+	6	3580	c.3282T>A	c.(3280-3282)gcT>gcA	p.A1094A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1094					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)					GTGAATCTGCTTCTGATAAAC	0.478																																						ENST00000376042.1																			0				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						c.(3280-3282)gcT>gcA		cyclin B3							42	31	34					X																	50054451		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054451T>A	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.3282T>A	X.37:g.50054451T>A						CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A|CCNB3_ENST00000376038.1_Intron	p.A1094A			Q8WWL7	CCNB3_HUMAN			6	3580	+	Ovarian(276;0.236)		1094					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3282T>A	CCDS14331.1																																																																																				0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			8	36	0	0	0	1	0	8	36					A	50054451	T	A	50054451	2	1	228	1	0	0	0	0	0	0	0	1	2914	1596	56	5		5	CCNB3	23	50054451	Silent	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	26656604	50054451	105216109	76	27939											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913359	77913359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggctcctggggagGtggaagctcaaggaactcta	14	10	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:77913359G>A	ENST00000321110.1	-	2	854	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	187	Pro-rich.						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						TCCTGGGGAGGTGGAAGCTCA	0.537																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(559-561)Cct>Tct		zinc finger, CCHC domain containing 5							41	41	41					X																	77913359		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913359G>A	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.559C>T	X.37:g.77913359G>A	ENSP00000316794:p.Pro187Ser						p.P187S	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	854	-			187			Pro-rich.		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.559C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.432832	0.01108	.	.	ENSG00000179300	ENST00000321110	T	0.17691	2.26	3.46	-5.74	0.02391	.	.	.	.	.	T	0.05547	0.0146	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40289	-0.9571	9	0.07175	T	0.84	.	1.35	0.02171	0.2436:0.2501:0.329:0.1772	.	187	Q8N8U3	ZCHC5_HUMAN	S	187	ENSP00000316794:P187S	ENSP00000316794:P187S	P	-	1	0	ZCCHC5	77800015	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.423000	0.01030	-1.795000	0.01255	-3.016000	0.00074	CCT		0.537	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		8	42	0	0	0	1	0	8	42					A	77913359	G	A	77913359	3	1	228	1	0	0	0	0	1	0	0	0	17588	1261	44	2	872	2	ZCCHC5	23	77913359	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	27858908	77913359	77357201	77	27940											
CHM	1121	broad.mit.edu	37	chrX	85119689	85119689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctttccttgaaagtctcCgagttagcctctggtatggc	11	10	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:85119689C>T	ENST00000357749.2	-	15	1937	c.1908G>A	c.(1906-1908)tcG>tcA	p.S636S	CHM_ENST00000537751.1_Silent_p.S488S|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	636					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)				TGAAAGTCTCCGAGTTAGCCT	0.453																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(1906-1908)tcG>tcA		choroideremia (Rab escort protein 1)							77	65	69					X																	85119689		2203	4300	6503	SO:0001819	synonymous_variant	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85119689C>T	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.1908G>A	X.37:g.85119689C>T						CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Silent_p.S488S	p.S636S	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			15	1937	-		all_lung(315;5.41e-06)	636					A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	c.1908G>A	CCDS14454.1																																																																																				0.453	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		4	16	0	0	0	1	0	4	16					T	85119689	C	T	85119689	2	4	228	1	0	0	0	0	0	0	0	1	3350	639	23	1		1	CHM	23	85119689	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	7206330	85119689	70150871	78	27941											
HTR2C	3358	broad.mit.edu	37	chrX	114082601	114082601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctagatatttgtgccccGtctggatttctttagatgtt	8	8	2	2	rs374923946		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:114082601G>A	ENST00000276198.1	+	5	1113	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I|HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	129					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)	TTTGTGCCCCGTCTGGATTTC	0.408																																						ENST00000276198.1																			0				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						c.(385-387)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	G	ILE/VAL	1,3834		0,0,1,1632,570	197	165	176		385	3.3	1	X		176	0,6728		0,0,0,2428,1872	no	missense	HTR2C	NM_000868.2	29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	129/459	114082601	1,10562	2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082601G>A		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.385G>A	X.37:g.114082601G>A	ENSP00000276198:p.Val129Ile					HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I|HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I	p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			5	1113	+			129					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.385G>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874555	0.33069	2.61E-4	0.0	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.36520	1.25;1.25;1.25	4.41	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.144783	0.44483	D	0.000454	T	0.13713	0.0332	N	0.05259	-0.085	0.30083	N	0.808982	P;B	0.42248	0.774;0.163	B;B	0.40782	0.34;0.042	T	0.20273	-1.0280	10	0.05351	T	0.99	.	6.2508	0.20845	0.264:0.0:0.736:0.0	.	129;129	B1AMW4;P28335	.;5HT2C_HUMAN	I	129	ENSP00000276198:V129I;ENSP00000361019:V129I;ENSP00000361018:V129I	ENSP00000276198:V129I	V	+	1	0	HTR2C	113988857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	1.771000	0.52183	0.544000	0.68410	GTC		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		35	92	0	0	0	1	0	35	92					A	114082601	G	A	114082601	3	1	228	1	0	0	0	0	1	0	0	0	7443	1145	40	1	395	1	HTR2C	23	114082601	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	28962912	114082601	41187959	79	27942											
ATP1B4	23439	broad.mit.edu	37	chrX	119500506	119500506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggagaaagaagaggagGaagaggaggaaaaggaggag	21	0	0	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(190-192)Gaa>Aaa		ATPase, Na+/K+ transporting, beta 4 polypeptide							94	82	86					X																	119500506		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119500506G>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.190G>A	X.37:g.119500506G>A	ENSP00000218008:p.Glu64Lys					ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			2	247	+			64			Glu-rich.		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.190G>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	6.874	0.530687	0.13127	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.07567	3.18;3.18;3.18	4.36	2.6	0.31112	.	0.600073	0.20168	N	0.097796	T	0.06872	0.0175	L	0.44542	1.39	0.41768	D	0.989753	B;B;B;B	0.11235	0.001;0.001;0.003;0.004	B;B;B;B	0.14023	0.002;0.002;0.01;0.006	T	0.25222	-1.0138	10	0.36615	T	0.2	-9.2124	4.1876	0.10405	0.2109:0.1866:0.6025:0.0	.	64;64;64;64	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	K	64	ENSP00000218008:E64K;ENSP00000355346:E64K;ENSP00000443334:E64K	ENSP00000218008:E64K	E	+	1	0	ATP1B4	119384534	1.000000	0.71417	0.883000	0.34634	0.014000	0.08584	5.556000	0.67307	0.576000	0.29452	-1.071000	0.02255	GAA		0.527	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		15	28	0	0	0	1	0	15	28					A	119500506	G	A	119500506	3	1	228	1	0	0	0	0	1	0	0	0	1135	1175	41	2	196	2	ATP1B4	23	119500506	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	5417905	119500506	35770054	80	27943											
CD46	4179	broad.mit.edu	37	chr1	207930382	207930382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaggagccaccaacaTttgaagctatggagctcatt	10	10	1	2			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:207930382T>C	ENST00000358170.2	+	2	277	c.121T>C	c.(121-123)Ttt>Ctt	p.F41L	CD46_ENST00000360212.2_Missense_Mutation_p.F41L|CD46_ENST00000357714.1_Missense_Mutation_p.F41L|CD46_ENST00000361067.1_Missense_Mutation_p.F41L|CD46_ENST00000322918.5_Missense_Mutation_p.F41L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Intron|CD46_ENST00000441839.2_Missense_Mutation_p.F41L|CD46_ENST00000354848.1_Missense_Mutation_p.F41L|CD46_ENST00000367042.1_Missense_Mutation_p.F41L|CD46_ENST00000322875.4_Missense_Mutation_p.F41L|CD46_ENST00000367041.1_Missense_Mutation_p.F41L|CD46_ENST00000480003.1_Missense_Mutation_p.F41L	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	41	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCACCAACATTTGAAGCTAT	0.413																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(121-123)Ttt>Ctt		CD46 molecule, complement regulatory protein							74	74	74					1																	207930382		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930382T>C	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.121T>C	1.37:g.207930382T>C	ENSP00000350893:p.Phe41Leu					CD46_ENST00000367041.1_Missense_Mutation_p.F41L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.F41L|CD46_ENST00000322918.5_Missense_Mutation_p.F41L|CD46_ENST00000367047.1_Intron|CD46_ENST00000441839.2_Missense_Mutation_p.F41L|CD46_ENST00000322875.4_Missense_Mutation_p.F41L|CD46_ENST00000357714.1_Missense_Mutation_p.F41L|CD46_ENST00000354848.1_Missense_Mutation_p.F41L|CD46_ENST00000360212.2_Missense_Mutation_p.F41L|CD46_ENST00000367042.1_Missense_Mutation_p.F41L|CD46_ENST00000361067.1_Missense_Mutation_p.F41L	p.F41L	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			2	277	+			41			Sushi 1.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.121T>C	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618816	0.46736	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;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;-0.13	3.72	2.58	0.30949	Complement control module (2);Sushi/SCR/CCP (3);	0.963127	0.08543	N	0.930250	T	0.65790	0.2725	L	0.33710	1.025	0.09310	N	1	P;P;D;P;D;D;P;D;P;D;P;D;P;D	0.89917	0.759;0.941;0.999;0.638;0.978;0.978;0.837;1.0;0.837;0.999;0.638;0.978;0.941;0.993	P;B;D;B;D;D;B;D;P;D;B;D;B;D	0.76575	0.585;0.329;0.937;0.309;0.927;0.95;0.309;0.966;0.485;0.988;0.309;0.95;0.329;0.98	T	0.52487	-0.8569	10	0.23891	T	0.37	.	6.4817	0.22067	0.2153:0.0:0.0:0.7847	.	41;41;41;41;41;41;41;41;41;41;41;41;41;41	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	L	41	ENSP00000350893:F41L;ENSP00000346912:F41L;ENSP00000314664:F41L;ENSP00000356009:F41L;ENSP00000356008:F41L;ENSP00000350346:F41L;ENSP00000313875:F41L;ENSP00000413543:F41L;ENSP00000354358:F41L;ENSP00000353342:F41L;ENSP00000418471:F41L	ENSP00000313875:F41L	F	+	1	0	CD46	205997005	0.003000	0.15002	0.001000	0.08648	0.013000	0.08279	1.461000	0.35255	0.765000	0.33221	0.402000	0.26972	TTT		0.413	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		28	39	0	0	0	1	0	28	39					C	207930382	T	C	207930382	3	2	229	1	0	0	0	0	1	0	0	0	3018	1493	52	3	127	3	CD46	1	207930382	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		207930382	41320239	1	27944											
COL5A2	1290	broad.mit.edu	37	chr2	189927953	189927953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgccctctgattcctAtggagcctggaggacctgga	14	12	1	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:189927953A>G	ENST00000374866.3	-	27	2088	c.1814T>C	c.(1813-1815)aTa>aCa	p.I605T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	605					axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGATTCCTATGGAGCCTGG	0.512																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1813-1815)aTa>aCa		collagen, type V, alpha 2							75	84	81					2																	189927953		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927953A>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1814T>C	2.37:g.189927953A>G	ENSP00000364000:p.Ile605Thr						p.I605T	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		27	2088	-			605					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1814T>C	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.570217	0.28003	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94000	-3.33	4.42	4.42	0.53409	.	0.000000	0.52532	D	0.000063	D	0.86952	0.6057	N	0.02985	-0.445	0.52099	D	0.999944	B;B	0.24963	0.004;0.115	B;B	0.42319	0.002;0.383	T	0.81982	-0.0683	9	.	.	.	.	13.9756	0.64271	1.0:0.0:0.0:0.0	.	245;605	Q5PR22;P05997	.;CO5A2_HUMAN	T	605;245	ENSP00000364000:I605T	.	I	-	2	0	COL5A2	189636198	1.000000	0.71417	0.987000	0.45799	0.822000	0.46500	6.807000	0.75201	1.765000	0.52091	0.260000	0.18958	ATA		0.512	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		48	75	0	0	0	1	0	48	75					G	189927953	A	G	189927953	3	3	229	1	0	0	0	0	1	0	0	0	3697	449	16	3	2797	3	COL5A2	2	189927953	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08		189927953	53271420	2	27945											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	63	0	0	0	1	0	34	63					T	209113112	C	T	209113112	3	4	229	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	19185159	209113112	34086261	3	27946											
IRS1	3667	broad.mit.edu	37	chr2	227662186	227662186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccgaggagatgaaaccGccatcgctgggggaaccaga	13	11	1	3	rs374786387		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:227662186G>A	ENST00000305123.5	-	1	2289	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	423	Ser-rich.				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)		AGATGAAACCGCCATCGCTGG	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				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						c.(1267-1269)ggC>ggT		insulin receptor substrate 1		G		0,4406		0,0,2203	82	88	86		1269	-1.8	1	2		86	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	IRS1	NM_005544.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		423/1243	227662186	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662186G>A		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.1269C>T	2.37:g.227662186G>A			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.G423G	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2289	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	423			Ser-rich.			Silent	SNP	ENST00000305123.5	37	c.1269C>T	CCDS2463.1																																																																																				0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	148	0	0	0	1	0	4	148					A	227662186	G	A	227662186	2	1	229	1	0	0	0	0	0	0	0	1	7840	1074	38	1		1	IRS1	2	227662186	Silent	SNP	G	TCGA-FN-7833-01A-11D-2086-08	18549074	227662186	15537187	4	27947											
RAD54L2	23132	broad.mit.edu	37	chr3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-													tggagctggaggatgcggaaGaggaggaggaggaggaggag							TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr3:51624506_51624508delGAG	ENST00000409535.2	+	2	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	30						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)		ggatgcggaagaggaggaggagg	0.586																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(70-72)del		RAD54-like 2 (S. cerevisiae)																																				SO:0001651	inframe_deletion	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51624506_51624508delGAG	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.70_72delGAG	3.37:g.51624515_51624517delGAG	ENSP00000386520:p.Glu30del						p.E30del	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	2	195_197	+			30					Q8TB57|Q9BV54	In_Frame_Del	DEL	ENST00000409535.2	37	c.70_72delGAG	CCDS33765.2																																																																																				0.586	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		2	4						2	4	---	---	---	---	-	51624508	GAG	-	51624506	7	5	229	1	0	1	0	1	0	0	0	0	12994	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-FN-7833-01A-11D-2086-08		51624506	146397924	5	27948											
KIAA1712	80817	broad.mit.edu	37	chr4	175220324	175220324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacctagaacaggtgctcCgcttgctaaattatcctgaa	9	10	0	2	rs375288124		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr4:175220324C>T	ENST00000503780.1	+	3	466	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	CEP44_ENST00000296519.4_Missense_Mutation_p.R18C|CEP44_ENST00000457424.2_Missense_Mutation_p.R18C|CEP44_ENST00000426172.1_Missense_Mutation_p.R18C	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	18						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ACAGGTGCTCCGCTTGCTAAA	0.358																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(52-54)Cgc>Tgc		centrosomal protein 44kDa		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	102	102	102		52,52	5.2	0.9	4		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CEP44	NM_001040157.2,NM_001145314.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	18/391,18/400	175220324	1,13005	2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175220324C>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"KIAA1712"	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.52C>T	4.37:g.175220324C>T	ENSP00000423153:p.Arg18Cys					CEP44_ENST00000457424.2_Missense_Mutation_p.R18C|CEP44_ENST00000426172.1_Missense_Mutation_p.R18C|CEP44_ENST00000296519.4_Missense_Mutation_p.R18C	p.R18C	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			3	466	+			18					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.52C>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933631	0.73442	0.0	1.16E-4	ENSG00000164118	ENST00000503780;ENST00000505124;ENST00000457424;ENST00000514712;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	T;T;T;T;T	0.62232	0.08;0.04;0.17;0.04;0.08	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.969	T	0.82170	-0.0590	10	0.87932	D	0	.	13.6408	0.62249	0.1548:0.8452:0.0:0.0	.	18;18	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	C	18	ENSP00000423153:R18C;ENSP00000389427:R18C;ENSP00000421128:R18C;ENSP00000408221:R18C;ENSP00000296519:R18C	ENSP00000296519:R18C	R	+	1	0	CEP44	175456899	1.000000	0.71417	0.925000	0.36789	0.946000	0.59487	4.114000	0.57858	2.414000	0.81942	0.585000	0.79938	CGC		0.358	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		39	39	0	0	0	1	0	39	39					T	175220324	C	T	175220324	3	4	229	1	0	0	0	0	1	0	0	0	8253	652	23	1	54	1	KIAA1712	4	175220324	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08		175220324	15933952	6	27949											
NIPBL	25836	broad.mit.edu	37	chr5	37044565	37044565	+	Frame_Shift_Del	DEL	G	G	-													attgaggaagatctaatgaaGctcatcatcaaatatggcat							TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:37044565delG	ENST00000282516.8	+	35	6724	c.6225delG	c.(6223-6225)aagfs	p.K2075fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2075fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2075					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)			ATCTAATGAAGCTCATCATCA	0.328																																						ENST00000282516.8																			0				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						c.(6223-6225)aafs		Nipped-B homolog (Drosophila)							95	92	93					5																	37044565		2203	4300	6503	SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37044565delG	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.6225delG	5.37:g.37044565delG	ENSP00000282516:p.Lys2075fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2075fs	p.K2075fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		35	6724	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2075					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.6225delG	CCDS3920.1																																																																																				0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		48	68						48	68	---	---	---	---	-	37044565	G	-	37044565	7	5	229	1	0	1	0	1	0	0	0	0	10428	962	34	0	6359	0	NIPBL	5	37044565	Frame_Shift_Del	DEL	G	TCGA-FN-7833-01A-11D-2086-08		37044565	143870695	7	27950											
BTN2A1	11120	broad.mit.edu	37	chr6	26458908	26458908	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccggccagcctcccTcctcctcctcctcctcagcc	4	25	2	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:26458908T>C	ENST00000312541.5	+	2	292	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000429381.1_Missense_Mutation_p.L15P|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L15P	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	15					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCAGCCTCCCTCCTCCTCCTC	0.582																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(43-45)cTc>cCc		butyrophilin, subfamily 2, member A1							187	142	157					6																	26458908		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26458908T>C	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.44T>C	6.37:g.26458908T>C	ENSP00000312158:p.Leu15Pro					BTN2A1_ENST00000312541.5_Missense_Mutation_p.L15P|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L15P	p.L15P			Q7KYR7	BT2A1_HUMAN			2	256	+			15					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.44T>C	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360847	0.41801	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.81078	-0.78;-1.45;-1.45	3.03	1.83	0.25207	Immunoglobulin-like (1);	0.656368	0.12607	N	0.454165	D	0.83778	0.5328	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.76494	0.981;0.999	P;D	0.85130	0.725;0.997	T	0.71882	-0.4458	10	0.87932	D	0	.	6.2417	0.20795	0.0:0.0:0.2598:0.7402	.	15;15	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	P	15	ENSP00000312158:L15P;ENSP00000416945:L15P;ENSP00000419043:L15P	ENSP00000265424:L15P	L	+	2	0	BTN2A1	26566887	0.015000	0.18098	0.002000	0.10522	0.013000	0.08279	1.449000	0.35123	0.539000	0.28788	0.397000	0.26171	CTC		0.582	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		5	183	0	0	0	1	0	5	183					C	26458908	T	C	26458908	3	2	229	1	0	0	0	0	1	0	0	0	1560	1551	54	3	46	3	BTN2A1	6	26458908	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		26458908	144656159	8	27951											
PRDM1	639	broad.mit.edu	37	chr6	106553131	106553131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgtcccctgtgggccccGgctctcaagagcaccgggac	14	16	1	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:106553131G>T	ENST00000369096.4	+	5	1330	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	PRDM1_ENST00000369091.2_Missense_Mutation_p.G330C|PRDM1_ENST00000369089.3_Missense_Mutation_p.G232C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	366					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGTGGGCCCCGGCTCTCAAGA	0.647			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1096-1098)Ggc>Tgc		PR domain containing 1, with ZNF domain							64	58	60					6																	106553131		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553131G>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1096G>T	6.37:g.106553131G>T	ENSP00000358092:p.Gly366Cys					PRDM1_ENST00000369091.2_Missense_Mutation_p.G330C|PRDM1_ENST00000369089.3_Missense_Mutation_p.G232C	p.G366C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1330	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	366					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1096G>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	1.702	-0.501355	0.04261	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.56941	0.43;0.43;0.43	5.41	2.13	0.27403	.	0.517808	0.22125	N	0.064267	T	0.12774	0.0310	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.17837	-1.0356	10	0.33940	T	0.23	-10.2117	4.6616	0.12645	0.1341:0.0:0.4713:0.3946	.	232;366	Q86WM7;O75626	.;PRDM1_HUMAN	C	330;366;330;232	ENSP00000358087:G330C;ENSP00000358092:G366C;ENSP00000358085:G232C	ENSP00000358085:G232C	G	+	1	0	PRDM1	106659824	0.001000	0.12720	0.020000	0.16555	0.016000	0.09150	0.822000	0.27352	0.628000	0.30357	-0.152000	0.13540	GGC		0.647	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			3	56	1	0	1	1	1	3	56					T	106553131	G	T	106553131	3	4	229	1	0	0	0	0	1	0	0	0	12450	1116	39	4	1127	4	PRDM1	6	106553131	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	80094223	106553131	64561936	9	27952											
KPNA5	3841	broad.mit.edu	37	chr6	117019898	117019898	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccaatagatcaagttatacaGaaaccaggagttgtacagag	9	7	1	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:117019898G>C	ENST00000368564.1	+	5	520	c.372G>C	c.(370-372)caG>caC	p.Q124H	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q124H			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	121					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)		AAGTTATACAGAAACCAGGAG	0.299																																						ENST00000368564.1																			0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(370-372)caG>caC		karyopherin alpha 5 (importin alpha 6)							36	40	38					6																	117019898		2203	4293	6496	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117019898G>C	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.372G>C	6.37:g.117019898G>C	ENSP00000357552:p.Gln124His					KPNA5_ENST00000356348.1_Missense_Mutation_p.Q124H	p.Q124H			O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	5	520	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	121					B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.372G>C	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051266	0.55218	.	.	ENSG00000196911	ENST00000368564;ENST00000413340;ENST00000356348	T;T;T	0.30714	1.52;1.52;1.52	5.11	0.746	0.18365	Armadillo-like helical (1);Armadillo-type fold (1);	0.257067	0.34178	N	0.004192	T	0.15392	0.0371	M	0.62016	1.91	0.28033	N	0.934071	B	0.33512	0.415	B	0.40285	0.325	T	0.15009	-1.0452	10	0.87932	D	0	.	4.9265	0.13896	0.5071:0.0:0.3466:0.1463	.	121	O15131	IMA5_HUMAN	H	124;121;124	ENSP00000357552:Q124H;ENSP00000396791:Q121H;ENSP00000348704:Q124H	ENSP00000348704:Q124H	Q	+	3	2	KPNA5	117126591	0.958000	0.32768	0.996000	0.52242	0.998000	0.95712	0.120000	0.15647	0.137000	0.18759	0.655000	0.94253	CAG		0.299	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		4	19	0	0	0	1	0	4	19					C	117019898	G	C	117019898	3	2	229	1	0	0	0	0	1	0	0	0	8433	933	33	4	390	4	KPNA5	6	117019898	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	10466767	117019898	54095169	10	27953											
ABCA13	154664	broad.mit.edu	37	chr7	48390284	48390284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatgcaggcgctggacgcTtccgtttcttgggcagcatc	12	13	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:48390284T>C	ENST00000435803.1	+	30	10273	c.10249T>C	c.(10249-10251)Ttc>Ctc	p.F3417L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3417					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						CGCTGGACGCTTCCGTTTCTT	0.522																																						ENST00000435803.1																			0				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						c.(10249-10251)Ttc>Ctc		ATP-binding cassette, sub-family A (ABC1), member 13							164	163	163					7																	48390284		2061	4213	6274	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48390284T>C	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.10249T>C	7.37:g.48390284T>C	ENSP00000411096:p.Phe3417Leu						p.F3417L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			30	10273	+			3417					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10249T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.532559	0.27387	.	.	ENSG00000179869	ENST00000435803	D	0.84298	-1.83	4.66	-8.37	0.00976	.	0.842911	0.09929	N	0.737521	T	0.59689	0.2212	N	0.04355	-0.22	0.20489	N	0.999896	B;B	0.09022	0.002;0.002	B;B	0.10450	0.004;0.005	T	0.52358	-0.8586	10	0.17369	T	0.5	.	7.7058	0.28648	0.6608:0.0968:0.0:0.2424	.	1119;3417	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3417	ENSP00000411096:F3417L	ENSP00000411096:F3417L	F	+	1	0	ABCA13	48360830	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.863000	0.04259	-0.917000	0.03813	0.533000	0.62120	TTC		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		42	70	0	0	0	1	0	42	70					C	48390284	T	C	48390284	3	2	229	1	0	0	0	0	1	0	0	0	31	1609	56	3	10196	3	ABCA13	7	48390284	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		48390284	110748379	11	27954											
TRPV5	56302	broad.mit.edu	37	chr7	142630466	142630466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcttgtccaggtgctGgtcccagtcttgttctctga	11	10	2	2			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:142630466G>T	ENST00000265310.1	-	1	439	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	TRPV5_ENST00000442623.1_Missense_Mutation_p.Q31K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	31					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)	p.Q31K(1)		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)					TCCAGGTGCTGGTCCCAGTCT	0.567																																						ENST00000265310.1																			1	Substitution - Missense(1)	p.Q31K(1)	lung(1)	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						c.(91-93)Cag>Aag		transient receptor potential cation channel, subfamily V, member 5							139	130	133					7																	142630466		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142630466G>T	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.91C>A	7.37:g.142630466G>T	ENSP00000265310:p.Gln31Lys					TRPV5_ENST00000442623.1_Missense_Mutation_p.Q31K	p.Q31K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			1	439	-	Melanoma(164;0.059)		31					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.91C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747967	0.30955	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.51817	0.69;0.69;0.69	4.44	3.55	0.40652	.	0.337011	0.26840	N	0.022230	T	0.41026	0.1141	M	0.72894	2.215	0.09310	N	1	B;B	0.22146	0.038;0.065	B;B	0.16289	0.01;0.015	T	0.30001	-0.9993	10	0.31617	T	0.26	-12.6926	5.397	0.16275	0.1028:0.0:0.6986:0.1986	.	31;31	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	K	31;25;31	ENSP00000265310:Q31K;ENSP00000406361:Q25K;ENSP00000406572:Q31K	ENSP00000265310:Q31K	Q	-	1	0	TRPV5	142340588	0.873000	0.30073	0.214000	0.23707	0.877000	0.50540	1.518000	0.35877	1.078000	0.41014	0.462000	0.41574	CAG		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		4	97	1	0	1.23904e-05	1	1.32754e-05	4	97					T	142630466	G	T	142630466	3	4	229	1	0	0	0	0	1	0	0	0	16596	1357	47	4	2158	4	TRPV5	7	142630466	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	94240182	142630466	16508197	12	27955											
ZC3H3	23144	broad.mit.edu	37	chr8	144620440	144620440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccctggcttggaggacGtggctggcttcctgggcttg	16	11	0	1	rs200873093		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr8:144620440G>A	ENST00000262577.5	-	2	1128	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	366					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGGAGGACGTGGCTGGCTT	0.627																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1096-1098)aCg>aTg		zinc finger CCCH-type containing 3							56	58	57					8																	144620440		2201	4295	6496	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620440G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1097C>T	8.37:g.144620440G>A	ENSP00000262577:p.Thr366Met						p.T366M	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	1128	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		366					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1097C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	6.660	0.490314	0.12702	.	.	ENSG00000014164	ENST00000262577	T	0.02737	4.18	5.2	-6.24	0.02046	.	1.510480	0.03904	N	0.280750	T	0.02807	0.0084	N	0.22421	0.69	0.09310	N	1	B	0.20261	0.043	B	0.09377	0.004	T	0.37641	-0.9697	10	0.48119	T	0.1	1.3731	14.521	0.67851	0.6511:0.0:0.3489:0.0	.	366	Q8IXZ2	ZC3H3_HUMAN	M	366	ENSP00000262577:T366M	ENSP00000262577:T366M	T	-	2	0	ZC3H3	144691583	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	-1.312000	0.02720	-1.196000	0.02676	-0.768000	0.03414	ACG		0.627	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		4	130	0	0	0	1	0	4	130					A	144620440	G	A	144620440	3	1	229	1	0	0	0	0	1	0	0	0	17566	1145	40	1	1793	1	ZC3H3	8	144620440	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		144620440	1743582	13	27956											
DOCK8	81704	broad.mit.edu	37	chr9	371468	371468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaaaattaagctccccGctaagctcacagtaaatcac	6	11	2	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr9:371468G>A	ENST00000453981.1	+	17	2021	c.1909G>A	c.(1909-1911)Gct>Act	p.A637T	DOCK8_ENST00000432829.2_Missense_Mutation_p.A569T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A569T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A104T|DOCK8_ENST00000382331.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	637	DHR-1.				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)		TAAGCTCCCCGCTAAGCTCAC	0.418																																						ENST00000432829.2																			0				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						c.(1705-1707)Gct>Act		dedicator of cytokinesis 8							109	101	104					9																	371468		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:371468G>A	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.1909G>A	9.37:g.371468G>A	ENSP00000408464:p.Ala637Thr					DOCK8_ENST00000453981.1_Missense_Mutation_p.A637T|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Missense_Mutation_p.A104T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A569T	p.A569T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	17	2021	+		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)	637			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1705G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990275	0.93106	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.17082	0.46	0.80722	D	1	D;P;D	0.89917	1.0;0.954;0.987	D;P;P	0.76071	0.987;0.679;0.846	T	0.08806	-1.0704	10	0.18710	T	0.47	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	569;104;637	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	T	637;637;569;569;104	ENSP00000408464:A637T;ENSP00000394888:A569T;ENSP00000419438:A569T;ENSP00000371766:A104T	ENSP00000287364:A637T	A	+	1	0	DOCK8	361468	1.000000	0.71417	0.572000	0.28498	0.971000	0.66376	9.756000	0.98918	2.814000	0.96858	0.655000	0.94253	GCT		0.418	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		51	67	0	0	0	1	0	51	67					A	371468	G	A	371468	3	1	229	1	0	0	0	0	1	0	0	0	4693	1087	38	1	1975	1	DOCK8	9	371468	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		371468	140841963	14	27957											
MBL2	4153	broad.mit.edu	37	chr10	54527961	54527961	+	Frame_Shift_Del	DEL	T	T	-													ggacgtcattccactggccaTttttcagtagcaatacacaa							TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:54527961delT	ENST00000373968.3	-	4	747	c.683delA	c.(682-684)aatfs	p.N228fs		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	228	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCACTGGCCATTTTTCAGTAG	0.483																																						ENST00000373968.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(682-684)atfs		mannose-binding lectin (protein C) 2, soluble							363	323	336					10																	54527961		2202	4300	6502	SO:0001589	frameshift_variant	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54527961delT	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.683delA	10.37:g.54527961delT	ENSP00000363079:p.Asn228fs						p.N228fs	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN			4	747	-			228			C-type lectin.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Frame_Shift_Del	DEL	ENST00000373968.3	37	c.683delA	CCDS7247.1																																																																																				0.483	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		7	579						7	579	---	---	---	---	-	54527961	T	-	54527961	7	5	229	1	0	1	0	1	0	0	0	0	9350	1493	52	0	67	0	MBL2	10	54527961	Frame_Shift_Del	DEL	T	TCGA-FN-7833-01A-11D-2086-08		54527961	81006786	15	27958											
OR51F2	119694	broad.mit.edu	37	chr11	4842846	4842846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcctatgtactatttcctCtctatgctttcagccacaga	5	12	2	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:4842846C>T	ENST00000322110.5	+	1	296	c.231C>T	c.(229-231)ctC>ctT	p.L77L	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	77						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)		ACTATTTCCTCTCTATGCTTT	0.458																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(229-231)ctC>ctT		olfactory receptor, family 51, subfamily F, member 2							205	198	200					11																	4842846		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842846C>T	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.231C>T	11.37:g.4842846C>T						MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L77L	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	296	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	77					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.231C>T	CCDS31361.1																																																																																				0.458	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		35	159	0	0	0	1	0	35	159					T	4842846	C	T	4842846	2	4	229	1	0	0	0	0	0	0	0	1	11097	900	32	2		2	OR51F2	11	4842846	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		4842846	130163670	16	27959											
EXPH5	23086	broad.mit.edu	37	chr11	108383673	108383673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgcattttgagtatcaGtcagtgcagagctccagtgg	12	7	2	2			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:108383673G>A	ENST00000265843.4	-	6	2671	c.2561C>T	c.(2560-2562)aCt>aTt	p.T854I	EXPH5_ENST00000428840.1_Missense_Mutation_p.T778I|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.T666I|EXPH5_ENST00000525344.1_Missense_Mutation_p.T847I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	854					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)		TTGAGTATCAGTCAGTGCAGA	0.403																																						ENST00000265843.4																			0				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						c.(2560-2562)aCt>aTt		exophilin 5							242	233	236					11																	108383673		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383673G>A		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.2561C>T	11.37:g.108383673G>A	ENSP00000265843:p.Thr854Ile					EXPH5_ENST00000443411.1_Missense_Mutation_p.T666I|EXPH5_ENST00000428840.1_Missense_Mutation_p.T778I|EXPH5_ENST00000525344.1_Missense_Mutation_p.T847I	p.T854I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	6	2671	-		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)	854					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2561C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	6.259	0.415969	0.11870	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04194	4.25;4.18;4.02;4.25;4.09;3.68	5.4	-1.08	0.09936	.	1.568100	0.03328	N	0.192984	T	0.05181	0.0138	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42849	-0.9427	10	0.46703	T	0.11	3.0733	5.5776	0.17233	0.2915:0.0:0.5838:0.1246	.	854	Q8NEV8	EXPH5_HUMAN	I	854;778;666;847;778;666	ENSP00000265843:T854I;ENSP00000391966:T778I;ENSP00000411390:T666I;ENSP00000432546:T847I;ENSP00000432683:T778I;ENSP00000446434:T666I	ENSP00000265843:T854I	T	-	2	0	EXPH5	107888883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.580000	0.23803	-0.376000	0.07943	-0.217000	0.12591	ACT		0.403	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		41	120	0	0	0	1	0	41	120					A	108383673	G	A	108383673	3	1	229	1	0	0	0	0	1	0	0	0	5322	1029	36	2	3412	2	EXPH5	11	108383673	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	103540827	108383673	26622843	17	27960											
CCDC60	160777	broad.mit.edu	37	chr12	119909950	119909950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatctcagaaatccacTatggggacaccttattgagg	9	8	1	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr12:119909950T>C	ENST00000327554.2	+	3	787	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	108										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAATCCACTATGGGGACAC	0.448																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(322-324)Tat>Cat		coiled-coil domain containing 60							174	179	178					12																	119909950		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119909950T>C	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.322T>C	12.37:g.119909950T>C	ENSP00000333374:p.Tyr108His					RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	p.Y108H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	787	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		108						Missense_Mutation	SNP	ENST00000327554.2	37	c.322T>C	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	T	7.572	0.666944	0.14710	.	.	ENSG00000183273	ENST00000327554	T	0.22134	1.97	4.28	3.12	0.35913	.	1.239680	0.05599	N	0.576099	T	0.30198	0.0757	L	0.51422	1.61	0.09310	N	0.999999	D	0.54964	0.969	P	0.50970	0.655	T	0.12528	-1.0544	9	.	.	.	-2.7642	7.2087	0.25921	0.0:0.1068:0.0:0.8932	.	108	Q8IWA6	CCD60_HUMAN	H	108	ENSP00000333374:Y108H	.	Y	+	1	0	CCDC60	118394333	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.342000	0.19926	0.745000	0.32763	-0.866000	0.03004	TAT		0.448	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		19	272	0	0	0	1	0	19	272					C	119909950	T	C	119909950	3	2	229	1	0	0	0	0	1	0	0	0	2831	1522	53	3	332	3	CCDC60	12	119909950	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		119909950	13941945	18	27961											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		7	128						7	128	---	---	---	---	-	31196894	A	-	31196894	7	5	229	1	0	1	0	1	0	0	0	0	9943	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-FN-7833-01A-11D-2086-08		31196894	71334498	19	27962											
TPSAB1	7177	broad.mit.edu	37	chr16	1291161	1291161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgccccagccccaggCcaggccctgcagcgagtggg	14	18	0	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1291161C>T	ENST00000338844.3	+	3	102	c.69C>T	c.(67-69)ggC>ggT	p.G23G	TPSAB1_ENST00000461509.2_Silent_p.G30G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	23			G -> V (in allele alpha; dbSNP:rs1141965). {ECO:0000269|PubMed:10898108}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CAGCCCCAGGCCAGGCCCTGC	0.716																																						ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(88-90)ggC>ggT		tryptase alpha/beta 1							22	23	22					16																	1291161		2193	4291	6484	SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291161C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.69C>T	16.37:g.1291161C>T						TPSAB1_ENST00000338844.3_Silent_p.G23G	p.G30G			P20231	TRYB2_HUMAN			2	284	+		Hepatocellular(780;0.00369)	23					D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.90C>T	CCDS10431.1																																																																																				0.716	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		4	44	0	0	0	1	0	4	44					T	1291161	C	T	1291161	2	4	229	1	0	0	0	0	0	0	0	1	16420	726	26	2		2	TPSAB1	16	1291161	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1291161	89063592	20	27963											
IFT140	9742	broad.mit.edu	37	chr16	1634358	1634358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgtgacgacatggcccGctcgctgaggatggccacgg	16	11	0	2			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1634358G>A	ENST00000426508.2	-	11	1582	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	407					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)				GACATGGCCCGCTCGCTGAGG	0.587																																						ENST00000426508.2																			0				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						c.(1219-1221)Cgg>Tgg		intraflagellar transport 140 homolog (Chlamydomonas)							47	36	40					16																	1634358		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1634358G>A	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.1219C>T	16.37:g.1634358G>A	ENSP00000406012:p.Arg407Trp					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.R407W	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			11	1582	-		Hepatocellular(780;0.219)	407					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1219C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555520	0.65425	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.60797	0.16	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);	0.114120	0.64402	D	0.000008	T	0.55657	0.1934	N	0.22421	0.69	0.38986	D	0.959055	P;P	0.52061	0.917;0.95	B;P	0.49047	0.28;0.599	T	0.61662	-0.7017	10	0.66056	D	0.02	.	19.0652	0.93108	0.0:0.0:1.0:0.0	.	407;132	Q96RY7;B4DR58	IF140_HUMAN;.	W	407	ENSP00000406012:R407W	ENSP00000380562:R407W	R	-	1	2	IFT140	1574359	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.403000	0.97302	2.749000	0.94314	0.655000	0.94253	CGG		0.587	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		3	32	0	0	0	1	0	3	32					A	1634358	G	A	1634358	3	1	229	1	0	0	0	0	1	0	0	0	7556	1086	38	1	3253	1	IFT140	16	1634358	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	343197	1634358	88720395	21	27964											
FAHD1	81889	broad.mit.edu	37	chr16	1877307	1877307	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcgtctgcgtggggaggaActacgcggaccacgtcaggg	16	11	2	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1877307A>T	ENST00000427358.2	+	1	83	c.77A>T	c.(76-78)aAc>aTc	p.N26I	HAGH_ENST00000566709.1_5'Flank|FAHD1_ENST00000382668.4_Missense_Mutation_p.N26I|HAGH_ENST00000397356.3_5'Flank|FAHD1_ENST00000382666.4_Missense_Mutation_p.N26I|HAGH_ENST00000455446.2_5'Flank|HAGH_ENST00000397353.2_5'Flank	NM_031208.3	NP_112485.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	26						cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetylpyruvate hydrolase activity (GO:0018773)|acylpyruvate hydrolase activity (GO:0047621)|fumarylpyruvate hydrolase activity (GO:0034545)|metal ion binding (GO:0046872)			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GTGGGGAGGAACTACGCGGAC	0.642																																						ENST00000382666.4																			0				NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						c.(76-78)aAc>aTc		fumarylacetoacetate hydrolase domain containing 1							74	56	62					16																	1877307		2199	4300	6499	SO:0001583	missense	81889					mitochondrion	hydrolase activity|metal ion binding|protein binding	g.chr16:1877307A>T	BC063017	CCDS10448.1, CCDS32367.1, CCDS45380.1	16p13.3	2011-10-21	2004-08-19	2004-08-26	ENSG00000180185	ENSG00000180185			14169	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 36"	C16orf36		21878618	Standard	NM_001018104		Approved	DKFZP566J2046	uc002cnd.3	Q6P587	OTTHUMG00000128663	ENST00000427358.2:c.77A>T	16.37:g.1877307A>T	ENSP00000398053:p.Asn26Ile					FAHD1_ENST00000382668.4_Missense_Mutation_p.N26I|FAHD1_ENST00000427358.2_Missense_Mutation_p.N26I	p.N26I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN			1	340	+			26					B1AK40|B1AK41|Q6FIC7|Q96RY1|Q9H0N6	Missense_Mutation	SNP	ENST00000427358.2	37	c.77A>T	CCDS10448.1	.	.	.	.	.	.	.	.	.	.	A	32	5.149626	0.94645	.	.	ENSG00000180185	ENST00000382668;ENST00000382666;ENST00000427358	D;D;D	0.97016	-4.21;-4.21;-4.21	4.71	4.71	0.59529	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.99825	4.815	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	0.98413	1.0573	10	0.87932	D	0	.	13.1443	0.59452	1.0:0.0:0.0:0.0	.	26;26;26	Q6P587-2;B1AK40;Q6P587	.;.;FAHD1_HUMAN	I	26	ENSP00000372114:N26I;ENSP00000372112:N26I;ENSP00000398053:N26I	ENSP00000372112:N26I	N	+	2	0	FAHD1	1817308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.252000	0.78309	1.988000	0.58038	0.533000	0.62120	AAC		0.642	FAHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250550.2	NM_001018104		4	102	0	0	0	1	0	4	102					T	1877307	A	T	1877307	3	4	229	1	0	0	0	0	1	0	0	0	5372	43	2	5	79	5	FAHD1	16	1877307	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08	242949	1877307	88477446	22	27965											
PRPF8	10594	broad.mit.edu	37	chr17	1557307	1557307	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgtcagtgatgccacgttCacactgtggggatggtgtgg	16	7	2	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:1557307C>T	ENST00000572621.1	-	37	6256	c.5991G>A	c.(5989-5991)gtG>gtA	p.V1997V	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Silent_p.V1997V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1997	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCCACGTTCACACTGTGGG	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5989-5991)gtG>gtA		pre-mRNA processing factor 8							246	218	227					17																	1557307		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1557307C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5991G>A	17.37:g.1557307C>T						PRPF8_ENST00000304992.6_Silent_p.V1997V	p.V1997V			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	37	6256	-			1997			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.5991G>A	CCDS11010.1																																																																																				0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			42	188	0	0	0	1	0	42	188					T	1557307	C	T	1557307	2	4	229	1	0	0	0	0	0	0	0	1	12575	813	29	2		2	PRPF8	17	1557307	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1557307	79637903	23	27966											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	9	16	2	0	rs121912660		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280K	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	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)	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)	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	GRCh37	CM993218	TP53	M	rs121912660	c.(838-840)aGa>aAa	Other conserved DNA damage response genes	tumor protein p53							77	67	70					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577099C>T	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	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K	p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	971	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.839G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	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		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	25	0	0	0	1	0	18	25					T	7577099	C	T	7577099	3	4	229	1	0	0	0	0	1	0	0	0	16378	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	6019792	7577099	73618111	24	27967											
TP53	7157	broad.mit.edu	37	chr17	7578474	7578475	+	Frame_Shift_Ins	INS	-	-	GG													cgcggacgcgggtgccgggcINSgggggtgtggaatcaaccca					rs137852790|rs137852791|rs587782705		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7578474_7578475insGG	ENST00000269305.4	-	5	644_645	c.455_456insCC	c.(454-456)ccgfs	p.P152fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P152fs	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (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.P152L(66)|p.P153fs*28(9)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGGTGCCGGGCGGGGGTGTGGA	0.614		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		145	Substitution - Missense(84)|Deletion - Frameshift(26)|Insertion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Substitution - coding silent(5)|Insertion - In frame(1)	p.P152L(66)|p.P153fs*28(9)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(27)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|skin(9)|ovary(9)|stomach(8)|urinary_tract(8)|prostate(8)|breast(5)|bone(5)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(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	GRCh37	CI920955|CM941327	TP53	I|M		c.(454-456)cccfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578474_7578475insGG	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.454_455dupCC	17.37:g.7578477_7578478dupGG	ENSP00000269305:p.Pro152fs	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)				TP53_ENST00000445888.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P152fs	p.P152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587_588	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.455_456insCC	CCDS11118.1																																																																																				0.614	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	89						44	89	---	---	---	---	GG	7578475	-	GG	7578474	7	5	229	1	0	1	1	0	0	0	0	0	16378	755	27	0	842	0	TP53	17	7578474	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08	1375	7578474	73616736	25	27968											
MYO15A	51168	broad.mit.edu	37	chr17	18024582	18024582	+	Frame_Shift_Del	DEL	C	C	-													gccccgctcgctgcaggagtCcccagccccacgccgagccg							TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:18024582delC	ENST00000205890.5	+	2	2806	c.2468delC	c.(2467-2469)tccfs	p.S823fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	823					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)					CTGCAGGAGTCCCCAGCCCCA	0.801																																						ENST00000205890.5																			0				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						c.(2467-2469)tcfs		myosin XVA							1	1	1					17																	18024582		955	2228	3183	SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18024582delC	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.2468delC	17.37:g.18024582delC	ENSP00000205890:p.Ser823fs						p.S823fs	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	2806	+	all_neural(463;0.228)		823			Myosin head-like.		B4DFC7	Frame_Shift_Del	DEL	ENST00000205890.5	37	c.2468delC	CCDS42271.1																																																																																				0.801	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		2	4						2	4	---	---	---	---	-	18024582	C	-	18024582	7	5	229	1	0	1	0	1	0	0	0	0	10063	855	30	0	2470	0	MYO15A	17	18024582	Frame_Shift_Del	DEL	C	TCGA-FN-7833-01A-11D-2086-08	10446108	18024582	63170628	26	27969											
SPOP	8405	broad.mit.edu	37	chr17	47688737	47688737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtcctcctaactcaTctgccagccggcactcagga	7	18	3	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:47688737T>G	ENST00000393328.2	-	7	928	c.563A>C	c.(562-564)gAt>gCt	p.D188A	SPOP_ENST00000347630.2_Missense_Mutation_p.D188A|SPOP_ENST00000504102.1_Missense_Mutation_p.D188A|SPOP_ENST00000503676.1_Missense_Mutation_p.D188A|SPOP_ENST00000393331.3_Missense_Mutation_p.D188A	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	188	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCCTAACTCATCTGCCAGCCG	0.502										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(562-564)gAt>gCt		speckle-type POZ protein							142	146	144					17																	47688737		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47688737T>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.563A>C	17.37:g.47688737T>G	ENSP00000377001:p.Asp188Ala	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.D188A|SPOP_ENST00000503676.1_Missense_Mutation_p.D188A|SPOP_ENST00000393328.2_Missense_Mutation_p.D188A|SPOP_ENST00000504102.1_Missense_Mutation_p.D188A	p.D188A	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			8	1033	-			188			BTB.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.563A>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851731	0.32699	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.46	5.46	0.80206	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.41079	1.255	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.56312	-0.8000	10	0.10902	T	0.67	-6.9686	15.3491	0.74368	0.0:0.0:0.0:1.0	.	188	O43791	SPOP_HUMAN	A	188;188;188;188;72;188;141;188;188	ENSP00000377001:D188A;ENSP00000377004:D188A;ENSP00000240327:D188A;ENSP00000425905:D188A;ENSP00000420908:D188A;ENSP00000426986:D188A;ENSP00000420960:D188A	ENSP00000240327:D188A	D	-	2	0	SPOP	45043736	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	5.931000	0.70113	2.296000	0.77279	0.482000	0.46254	GAT		0.502	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		102	148	0	0	0	1	0	102	148					G	47688737	T	G	47688737	3	3	229	1	0	0	0	0	1	0	0	0	15083	1435	50	5	581	5	SPOP	17	47688737	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08	29664155	47688737	33506473	27	27970											
CABLES1	91768	broad.mit.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-													agggcggcgcggccaagccgGgcgccggcggcgcctgcggc					rs201595073|rs139352344	byFrequency	TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137					ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(289-297)del		Cdk5 and Abl enzyme substrate 1																																				SO:0001651	inframe_deletion	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716015_20716023delGGCGCCGGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del					CABLES1_ENST00000400473.2_Intron	p.GAG97del	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			1	289_297	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		97			Ala-rich.|Interacts with TDRD7 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL	ENST00000256925.7	37	c.289_297delGGCGCCGGC	CCDS42417.1																																																																																				0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	1						5	1	---	---	---	---	-	20716023	GGCGCCGGC	-	20716015	7	5	229	1	0	1	0	1	0	0	0	0	2529	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-FN-7833-01A-11D-2086-08		20716015	57361233	28	27971											
OR1M1	125963	broad.mit.edu	37	chr19	9204306	9204306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtggccatctgccaccCattgcactacgccaagatca	8	15	2	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:9204306C>T	ENST00000429566.3	+	1	452	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	129						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)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCTGCCACCCATTGCACTAC	0.552																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(385-387)cCa>cTa		olfactory receptor, family 1, subfamily M, member 1							116	85	95					19																	9204306		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204306C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.386C>T	19.37:g.9204306C>T	ENSP00000401966:p.Pro129Leu						p.P129L	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	452	+			129					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.386C>T	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	17.92	3.506308	0.64410	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.01902	4.57	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.21145	0.0509	H	0.96861	3.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.37033	-0.9723	10	0.87932	D	0	.	15.0352	0.71741	0.0:1.0:0.0:0.0	.	129	Q8NGA1	OR1M1_HUMAN	L	132;129	ENSP00000401966:P129L	ENSP00000303195:P132L	P	+	2	0	OR1M1	9065306	0.977000	0.34250	0.159000	0.22649	0.279000	0.26890	4.598000	0.61069	2.180000	0.69256	0.645000	0.84053	CCA		0.552	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			26	55	0	0	0	1	0	26	55					T	9204306	C	T	9204306	3	4	229	1	0	0	0	0	1	0	0	0	10968	594	21	2	388	2	OR1M1	19	9204306	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08		9204306	49924677	29	27972											
ATRX	546	broad.mit.edu	37	chrX	76855018	76855019	+	Frame_Shift_Ins	INS	-	-	T													cttccacttgagctactatcINSttttttcccctttttccctt							TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:76855018_76855019insT	ENST00000373344.5	-	25	6031_6032	c.5817_5818insA	c.(5815-5820)aaagatfs	p.D1940fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D1902fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1940					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						GAGCTACTATCTTTTTTCCCCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5815-5820)aaatagfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855018_76855019insT	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.5818dupA	X.37:g.76855024_76855024dupT	ENSP00000362441:p.Asp1940fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*1902fs	p.*1940fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6031_6032	-			1940					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.5817_5818insA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		204	90						204	90	---	---	---	---	T	76855019	-	T	76855018	7	5	229	1	0	1	1	0	0	0	0	0	1208	913	32	0	1704	0	ATRX	23	76855018	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08		76855018	78415542	30	27973											
COL4A5	1287	broad.mit.edu	37	chrX	107821211	107821211	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaccaggacttccaggAcctaaggtaattttcttttt	8	10	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:107821211A>T	ENST00000361603.2	+	11	883	c.639A>T	c.(637-639)ggA>ggT	p.G213G	COL4A5_ENST00000328300.6_Silent_p.G213G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	213	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTTCCAGGACCTAAGGTAA	0.328									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(637-639)ggA>ggT		collagen, type IV, alpha 5							42	44	43					X																	107821211		2196	4291	6487	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107821211A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.639A>T	X.37:g.107821211A>T						COL4A5_ENST00000361603.2_Silent_p.G213G	p.G213G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			11	883	+			213			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.639A>T	CCDS14543.1																																																																																				0.328	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			18	1	0	0	0	1	0	18	1					T	107821211	A	T	107821211	2	4	229	1	0	0	0	0	0	0	0	1	3694	262	10	5		5	COL4A5	23	107821211	Silent	SNP	A	TCGA-FN-7833-01A-11D-2086-08	30966193	107821211	47449349	31	27974											
THOC2	57187	broad.mit.edu	37	chrX	122758005	122758005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatcaaatccagttgccCgtaatatggtaaggaatcct	7	11	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:122758005C>T	ENST00000245838.8	-	27	3255	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	THOC2_ENST00000355725.4_Missense_Mutation_p.R1075Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R960Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1075					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						TCCAGTTGCCCGTAATATGGT	0.328																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3223-3225)cGg>cAg		THO complex 2							123	104	110					X																	122758005		1828	4073	5901	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122758005C>T	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.3224G>A	X.37:g.122758005C>T	ENSP00000245838:p.Arg1075Gln					THOC2_ENST00000355725.4_Missense_Mutation_p.R1075Q|THOC2_ENST00000491737.1_Missense_Mutation_p.R960Q	p.R1075Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			27	3255	-			1075					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3224G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596107	0.86953	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	.	.	.	5.77	5.77	0.91146	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000015	D	0.84800	0.5552	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84835	0.0804	9	0.36615	T	0.2	-6.8817	18.9662	0.92697	0.0:1.0:0.0:0.0	.	1075	Q8NI27	THOC2_HUMAN	Q	1075;1075;960	.	ENSP00000245838:R1075Q	R	-	2	0	THOC2	122585686	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.074000	0.71253	2.427000	0.82271	0.600000	0.82982	CGG		0.328	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			27	4	0	0	0	1	0	27	4					T	122758005	C	T	122758005	3	4	229	1	0	0	0	0	1	0	0	0	15862	652	23	1	1605	1	THOC2	23	122758005	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	14936794	122758005	32512555	32	27975											
PADI2	11240	broad.mit.edu	37	chr1	17413096	17413096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaacagaggccttccaCgaagaacagcagctccgcgg	14	12	0	2	rs192937557		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	ENST00000375486.4	-	7	817	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_ENST00000375481.1_Missense_Mutation_p.V252M|PADI2_ENST00000444885.2_Silent_p.S170S	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	252					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0					ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(754-756)Gtg>Atg		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)	C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	67	70	69		754	4.2	1	1		69	0,8600		0,0,4300	no	missense	PADI2	NM_007365.2	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	252/666	17413096	2,13004	2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17413096C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.754G>A	1.37:g.17413096C>T	ENSP00000364635:p.Val252Met					PADI2_ENST00000444885.2_Silent_p.S170S|PADI2_ENST00000375481.1_Missense_Mutation_p.V252M	p.V252M	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	7	817	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	252					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.754G>A	CCDS177.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.68	3.448384	0.63178	4.54E-4	0.0	ENSG00000117115	ENST00000375486;ENST00000375481	T;T	0.25749	1.78;1.78	5.08	4.16	0.48862	Protein-arginine deiminase (PAD), central domain (2);	0.123357	0.53938	D	0.000043	T	0.45955	0.1368	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44050	-0.9353	10	0.87932	D	0	-27.7063	11.687	0.51492	0.0:0.9131:0.0:0.0869	.	252	Q9Y2J8	PADI2_HUMAN	M	252	ENSP00000364635:V252M;ENSP00000364630:V252M	ENSP00000364630:V252M	V	-	1	0	PADI2	17285683	0.999000	0.42202	1.000000	0.80357	0.296000	0.27459	4.388000	0.59633	2.359000	0.80004	0.460000	0.39030	GTG		0.617	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			12	59	0	0	0	0.411799	0	12	59					T	17413096	C	T	17413096	3	4	230	1	0	0	0	0	1	0	0	0	11378	536	19	1	1283	1	PADI2	1	17413096	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17413096	231837525	1	27976											
EIF2C1	26523	broad.mit.edu	37	chr1	36379854	36379855	+	Frame_Shift_Ins	INS	-	-	A													accccccagcaggggatgggINSaaaaaaccttctatcacagc							TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:36379854_36379855insA	ENST00000373204.4	+	14	2025_2026	c.1812_1813insA	c.(1813-1815)aaafs	p.K605fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.K530fs	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	605	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CAGGGGATGGGAAAAAACCTTC	0.48																																						ENST00000373204.4																			0											c.(1810-1815)ggaaaafs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36379854_36379855insA	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1818dupA	1.37:g.36379860_36379860dupA	ENSP00000362300:p.Lys605fs					AGO1_ENST00000373206.1_Frame_Shift_Ins_p.GK529fs	p.GK604fs	NM_012199.2	NP_036331.1					14	2025_2026	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.1812_1813insA	CCDS398.1																																																																																				0.48	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			19	65						19	65	---	---	---	---	A	36379855	-	A	36379854	7	5	230	1	0	1	1	0	0	0	0	0	5005	1161	41	0	1866	0	EIF2C1	1	36379854	Frame_Shift_Ins	INS	-	TCGA-HT-7467-01A-11D-2024-08	18966758	36379854	212870767	2	27977											
DMBX1	127343	broad.mit.edu	37	chr1	46976279	46976279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacccagatgtggtgatgCgtgagaggctggccatgtgc	15	9	0	3			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:46976279C>T	ENST00000360032.3	+	2	300	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	DMBX1_ENST00000371956.4_Missense_Mutation_p.R101C	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGTGATGCGTGAGAGGCT	0.602																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(301-303)Cgt>Tgt		diencephalon/mesencephalon homeobox 1							80	68	72					1																	46976279		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976279C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.286C>T	1.37:g.46976279C>T	ENSP00000353132:p.Arg96Cys					DMBX1_ENST00000360032.3_Missense_Mutation_p.R96C	p.R101C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			2	316	+	Acute lymphoblastic leukemia(166;0.155)		101			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.301C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958466	0.74016	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.97480	-4.4;-4.4	5.13	4.16	0.48862	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.047287	0.85682	D	0.000000	D	0.99077	0.9683	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.98190	1.0462	10	0.87932	D	0	.	10.7596	0.46258	0.3488:0.6512:0.0:0.0	.	101;96	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	C	101;96	ENSP00000361024:R101C;ENSP00000353132:R96C	ENSP00000353132:R96C	R	+	1	0	DMBX1	46748866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.745000	0.26259	2.403000	0.81681	0.491000	0.48974	CGT		0.602	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			3	29	0	0	0	0.184627	0	3	29					T	46976279	C	T	46976279	3	4	230	1	0	0	0	0	1	0	0	0	4578	768	27	1	307	1	DMBX1	1	46976279	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	10596425	46976279	202274342	3	27978											
FUBP1	8880	broad.mit.edu	37	chr1	78435640	78435640	+	Nonsense_Mutation	SNP	A	A	C													aaaggtcttttttgtcccccAtaaccatagtcatttgaatt							TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	ENST00000370768.2	-	2	261	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.Y60*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	60					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTGTCCCCCATAACCATAGT	0.303			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(178-180)taT>taG		far upstream element (FUSE) binding protein 1							93	87	89					1																	78435640		2203	4298	6501	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78435640A>C	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.180T>G	1.37:g.78435640A>C	ENSP00000359804:p.Tyr60*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Y60*	p.Y60*			Q96AE4	FUBP1_HUMAN			2	267	-			60					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.180T>G	CCDS683.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755588	0.89843	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.77	4.64	0.57946	.	0.110652	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2535	10.5316	0.44979	0.8652:0.0:0.1348:0.0	.	.	.	.	X	60	.	ENSP00000294623:Y60X	Y	-	3	2	FUBP1	78208228	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.315000	0.51951	1.010000	0.39314	-0.351000	0.07748	TAT		0.303	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		13	29	0	0	0	0.457914	0	13	29					C	78435640	A	C	78435640	4	2	230	1	0	0	0	0	0	1	0	0	6092	224	8	5	1830	5	FUBP1	1	78435640	Nonsense_Mutation	SNP	A	TCGA-HT-7467-01A-11D-2024-08	31459361	78435640	170814981	4	27979	133	2									
FUBP1	8880	broad.mit.edu	37	chr1	78435643	78435643	+	Silent	SNP	A	A	C													ggtcttttttgtcccccataAccatagtcatttgaattcag							TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	ENST00000370768.2	-	2	258	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370767.1_Silent_p.G59G	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	59					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCCCATAACCATAGTCAT	0.308			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(175-177)ggT>ggG		far upstream element (FUSE) binding protein 1							91	85	87					1																	78435643		2203	4299	6502	SO:0001819	synonymous_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78435643A>C	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.177T>G	1.37:g.78435643A>C						FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370768.2_Silent_p.G59G	p.G59G			Q96AE4	FUBP1_HUMAN			2	264	-			59					Q12828	Silent	SNP	ENST00000370768.2	37	c.177T>G	CCDS683.1																																																																																				0.308	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		13	31	0	0	0	0.479597	0	13	31					C	78435643	A	C	78435643	2	2	230	1	0	0	0	0	0	0	0	1	6092	30	2	5		5	FUBP1	1	78435643	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08	3	78435643	170814978	5	27980	133	2									
EDEM3	80267	broad.mit.edu	37	chr1	184723669	184723669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggctcggcccccgccgTccacacggaggtggccgaca	14	17	0	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	ENST00000318130.8	-	1	378	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_ENST00000367512.3_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	38					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						GCCCCCGCCGTCCACACGGAG	0.692																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(112-114)Acg>Gcg		ER degradation enhancer, mannosidase alpha-like 3							33	32	32					1																	184723669		2200	4298	6498	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184723669T>C	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.112A>G	1.37:g.184723669T>C	ENSP00000318147:p.Thr38Ala					EDEM3_ENST00000367512.3_5'UTR	p.T38A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			1	378	-			38					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.112A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816492	0.50527	.	.	ENSG00000116406	ENST00000318130	T	0.71461	-0.57	4.62	0.793	0.18632	.	0.525582	0.18647	N	0.135102	T	0.36303	0.0962	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.05620	T	0.96	.	0.8057	0.01084	0.2022:0.1154:0.2098:0.4727	.	38	Q9BZQ6	EDEM3_HUMAN	A	38	ENSP00000318147:T38A	ENSP00000318147:T38A	T	-	1	0	EDEM3	182990292	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.100000	0.15231	0.252000	0.21531	0.496000	0.49642	ACG		0.692	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		4	42	0	0	0	0.184627	0	4	42					C	184723669	T	C	184723669	3	2	230	1	0	0	0	0	1	0	0	0	4913	1667	58	3	2766	3	EDEM3	1	184723669	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	106288026	184723669	64526952	6	27981											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863284	186863284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactctagggacagcaacaTttactgtatcttctatgaag	7	8	3	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	ENST00000367466.3	+	5	471	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	107	Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GACAGCAACATTTACTGTATC	0.333																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(319-321)Ttt>Gtt		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						149	146	147					1																	186863284		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186863284T>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.319T>G	1.37:g.186863284T>G	ENSP00000356436:p.Phe107Val					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V|PLA2G4A_ENST00000466600.1_3'UTR	p.F107V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			5	471	+			107			Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.319T>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246359	0.80024	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.61627	0.09;0.09	5.71	5.71	0.89125	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.101352	0.64402	D	0.000001	T	0.60353	0.2262	L	0.50333	1.59	0.51767	D	0.999939	P;P	0.47762	0.9;0.878	P;P	0.50537	0.643;0.48	T	0.55611	-0.8114	10	0.17832	T	0.49	-20.0835	15.1854	0.72996	0.0:0.0:0.0:1.0	.	107;107	E7EU42;P47712	.;PA24A_HUMAN	V	107	ENSP00000356436:F107V;ENSP00000406892:F107V	ENSP00000356436:F107V	F	+	1	0	PLA2G4A	185129907	1.000000	0.71417	0.880000	0.34516	0.713000	0.41058	7.356000	0.79445	2.171000	0.68590	0.528000	0.53228	TTT		0.333	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		20	46	0	0	0	0.654019	0	20	46					G	186863284	T	G	186863284	3	3	230	1	0	0	0	0	1	0	0	0	12001	1493	52	5	333	5	PLA2G4A	1	186863284	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2139615	186863284	62387337	7	27982											
EPHX1	2052	broad.mit.edu	37	chr1	226032903	226032903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttttgagctattgcacaCgcctgaaaagtgggtgaggt	12	9	0	3	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	ENST00000366837.4	+	9	1419	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	408			T -> M (in dbSNP:rs45495897). {ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.T408K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567													C|||	14	0.00279553	0.0106	0.0	5008	,	,		13289	0.0		0.0	False		,,,				2504	0.0					ENST00000366837.4																			1	Substitution - Missense(1)	p.T408K(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1222-1224)aCg>aTg		epoxide hydrolase 1, microsomal (xenobiotic)		C	MET/THR,MET/THR	73,4333	64.1+/-101.4	0,73,2130	102	93	96		1223,1223	-7.7	0	1	dbSNP_127	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	81,81	0,74,6429	TT,TC,CC		0.0116,1.6568,0.569	benign,benign	408/456,408/456	226032903	74,12932	2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032903C>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1223C>T	1.37:g.226032903C>T	ENSP00000355802:p.Thr408Met					EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	p.T408M	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			9	1419	+	Breast(184;0.197)		408		T -> M (in dbSNP:rs45495897).			B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1223C>T	CCDS1547.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	5.492	0.275694	0.10403	0.016568	1.16E-4	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.08193	3.12;3.12	5.0	-7.74	0.01241	.	1.893820	0.04100	N	0.312665	T	0.03390	0.0098	L	0.56280	1.765	0.09310	N	1	P	0.40332	0.713	B	0.32022	0.139	T	0.27054	-1.0085	10	0.31617	T	0.26	-1.9076	12.4983	0.55942	0.0:0.5903:0.1421:0.2676	rs45495897	408	P07099	HYEP_HUMAN	M	408	ENSP00000272167:T408M;ENSP00000355802:T408M	ENSP00000272167:T408M	T	+	2	0	EPHX1	224099526	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.655000	0.01982	-1.069000	0.03153	-0.379000	0.06801	ACG		0.567	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		9	84	0	0	0	0.361761	0	9	84					T	226032903	C	T	226032903	3	4	230	1	0	0	0	0	1	0	0	0	5179	536	19	1	1253	1	EPHX1	1	226032903	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	39169619	226032903	23217718	8	27983											
TRIM58	25893	broad.mit.edu	37	chr1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggaaatgcagaggcagcGcttcagattggagtttgaga	15	5	1	3	rs147592698	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													G|||	8	0.00159744	0.0	0.0	5008	,	,		17226	0.0079		0.0	False		,,,				2504	0.0					ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(541-543)cGc>cAc		tripartite motif containing 58		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75	57	63		542	1.3	0.2	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	TRIM58	NM_015431.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	181/487	248028032	1,13005	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028032G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.542G>A	1.37:g.248028032G>A	ENSP00000355437:p.Arg181His						p.R181H	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	590	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	181					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.542G>A	CCDS1636.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.79	2.641317	0.47153	2.27E-4	0.0	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.29	0.21616	.	0.622326	0.13793	N	0.362392	T	0.06826	0.0174	M	0.81179	2.53	0.09310	N	0.999999	B	0.30563	0.285	B	0.23716	0.048	T	0.29458	-1.0011	10	0.72032	D	0.01	.	3.4156	0.07375	0.2901:0.0:0.5304:0.1795	.	181	Q8NG06	TRI58_HUMAN	H	181	ENSP00000355437:R181H	ENSP00000355437:R181H	R	+	2	0	TRIM58	246094655	0.001000	0.12720	0.182000	0.23118	0.606000	0.37113	-0.027000	0.12371	0.170000	0.19704	0.655000	0.94253	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		6	29	0	0	0	0.248553	0	6	29					A	248028032	G	A	248028032	3	1	230	1	0	0	0	0	1	0	0	0	16528	1087	38	1	552	1	TRIM58	1	248028032	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	21995129	248028032	1222589	9	27984											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			9	64	0	0	0	0.335167	0	9	64					T	209113112	C	T	209113112	3	4	230	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		209113112	34086261	10	27985											
SPEG	10290	broad.mit.edu	37	chr2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	CT	-													agcgcagccgcgagtcgcccCtgtcgctggggctgcggctg							TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	ENST00000312358.7	+	30	7165_7166	c.7033_7034delCT	c.(7033-7035)ctgfs	p.L2345fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				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)		CGAGTCGCCCCTGTCGCTGGGG	0.698																																						ENST00000312358.7																			0				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						c.(7033-7035)gfs		SPEG complex locus																																				SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220349218_220349219delCT	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.7033_7034delCT	2.37:g.220349218_220349219delCT	ENSP00000311684:p.Leu2345fs					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.L2345fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	30	7165_7166	+		Renal(207;0.0183)	2345			Arg-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.7033_7034delCT	CCDS42824.1																																																																																				0.698	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		7	14						7	14	---	---	---	---	-	220349219	CT	-	220349218	7	5	230	1	0	1	0	1	0	0	0	0	15035	680	24	0	7163	0	SPEG	2	220349218	Frame_Shift_Del	DEL	CT	TCGA-HT-7467-01A-11D-2024-08	11236106	220349218	22850155	11	27986											
CCDC158	339965	broad.mit.edu	37	chr4	77317545	77317545	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttccacttcatatttAgggaaaaaaggaacctgtgt	8	7	2	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	ENST00000388914.3	-	3	317	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_ENST00000434846.2_Silent_p.P55P|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(163-165)ccT>ccC		coiled-coil domain containing 158							81	78	79					4																	77317545		1814	4077	5891	SO:0001819	synonymous_variant	339965							g.chr4:77317545A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.165T>C	4.37:g.77317545A>G						CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Silent_p.P55P	p.P55P	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			3	317	-			55					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.165T>C	CCDS43242.1																																																																																				0.358	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		5	57	0	0	0	0.184627	0	5	57					G	77317545	A	G	77317545	2	3	230	1	0	0	0	0	0	0	0	1	2790	407	15	3		3	CCDC158	4	77317545	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08		77317545	113836731	12	27987											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251116	160251116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttatggtgaaagaacaccGagaacttgatcgaactggaa	11	6	0	4	rs376476743		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:160251116G>A	ENST00000264431.4	+	6	1192	c.773G>A	c.(772-774)cGa>cAa	p.R258Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	258					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|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)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAGAACACCGAGAACTTGAT	0.413																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(772-774)cGa>cAa		Rap guanine nucleotide exchange factor (GEF) 2		G	GLN/ARG	0,3842		0,0,1921	141	131	134		773	5.9	1	4		134	1,8257		0,1,4128	no	missense	RAPGEF2	NM_014247.2	43	0,1,6049	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	258/1500	160251116	1,12099	1921	4129	6050	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251116G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.773G>A	4.37:g.160251116G>A	ENSP00000264431:p.Arg258Gln						p.R258Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	6	1192	+	all_hematologic(180;0.24)		258					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.773G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	37	6.004938	0.97195	0.0	1.21E-4	ENSG00000109756	ENST00000264431	T	0.45668	0.89	5.87	5.87	0.94306	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72343	-0.4322	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	258	Q9Y4G8	RPGF2_HUMAN	Q	258	ENSP00000264431:R258Q	ENSP00000264431:R258Q	R	+	2	0	RAPGEF2	160470566	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGA		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		4	72	0	0	0	0.150653	0	4	72					A	160251116	G	A	160251116	3	1	230	1	0	0	0	0	1	0	0	0	13044	1058	37	1	795	1	RAPGEF2	4	160251116	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	82933571	160251116	30903160	13	27988											
SLCO4C1	353189	broad.mit.edu	37	chr5	101592891	101592891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acataaatacaaaactcagcGtaagtgcaactccagatgtg	7	9	1	1	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	ENST00000310954.6	-	8	1683	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAAACTCAGCGTAAGTGCAAC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		18172	0.001		0.0	False		,,,				2504	0.0					ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1396-1398)aCg>aTg		solute carrier organic anion transporter family, member 4C1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103	101	102		1397	-7.1	0	5	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLCO4C1	NM_180991.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	466/725	101592891	2,13004	2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101592891G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1397C>T	5.37:g.101592891G>A	ENSP00000309741:p.Thr466Met						p.T466M	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1683	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	466						Missense_Mutation	SNP	ENST00000310954.6	37	c.1397C>T	CCDS34205.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.756	0.323901	0.10900	2.27E-4	1.16E-4	ENSG00000173930	ENST00000310954	T	0.81078	-1.45	5.78	-7.13	0.01532	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.033910	0.01821	N	0.034053	T	0.56543	0.1992	N	0.01729	-0.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53947	-0.8366	10	0.45353	T	0.12	.	10.7214	0.46042	0.3748:0.1134:0.5118:0.0	.	466	Q6ZQN7	SO4C1_HUMAN	M	466	ENSP00000309741:T466M	ENSP00000309741:T466M	T	-	2	0	SLCO4C1	101620790	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.229000	0.17833	-1.548000	0.01712	-0.438000	0.05819	ACG		0.353	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		5	45	0	0	0	0.217242	0	5	45					A	101592891	G	A	101592891	3	1	230	1	0	0	0	0	1	0	0	0	14730	1145	40	1	801	1	SLCO4C1	5	101592891	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		101592891	79322369	14	27989											
GPR110	266977	broad.mit.edu	37	chr6	46977421	46977421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtgatccattttacaaCggggaagattgtagagggga	14	4	0	3	rs188943175		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr6:46977421C>T	ENST00000371253.2	-	11	1965	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	584					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)			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						CATTTTACAACGGGGAAGATT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		22813	0.0		0.001	False		,,,				2504	0.0					ENST00000371253.2																			0				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						c.(1750-1752)Gtt>Att		G protein-coupled receptor 110							116	108	111					6																	46977421		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977421C>T	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.1750G>A	6.37:g.46977421C>T	ENSP00000360299:p.Val584Ile					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	p.V584I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	1965	-			584					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1750G>A	CCDS34471.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.385	-0.582398	0.03827	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.45276	0.9;0.9	5.76	0.767	0.18482	.	0.637145	0.14501	N	0.315730	T	0.07999	0.0200	L	0.27975	0.815	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.35400	-0.9790	10	0.21014	T	0.42	-2.7793	2.8114	0.05443	0.1134:0.5082:0.1103:0.2681	.	584	Q5T601	GP110_HUMAN	I	584;584;387	ENSP00000360299:V584I;ENSP00000283297:V387I	ENSP00000283297:V387I	V	-	1	0	GPR110	47085380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.091000	0.11146	-0.151000	0.11176	-0.378000	0.06908	GTT		0.428	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		7	73	0	0	0	0.335167	0	7	73					T	46977421	C	T	46977421	3	4	230	1	0	0	0	0	1	0	0	0	6627	536	19	1	1002	1	GPR110	6	46977421	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		46977421	124137646	15	27990											
DOCK5	80005	broad.mit.edu	37	chr8	25181376	25181376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttcagccagagataaatCggagcgagcatttggggtgg	14	7	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	ENST00000276440.7	+	17	1672	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	543	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1627-1629)tCg>tTg		dedicator of cytokinesis 5							79	62	67					8																	25181376		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25181376C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1628C>T	8.37:g.25181376C>T	ENSP00000276440:p.Ser543Leu						p.S543L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	17	1672	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	543			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1628C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837911	0.91117	.	.	ENSG00000147459	ENST00000276440	T	0.15372	2.43	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.67397	2.05	0.58432	D	0.999999	P;P;D	0.59357	0.949;0.949;0.985	P;P;P	0.48921	0.595;0.491;0.595	T	0.02639	-1.1130	10	0.72032	D	0.01	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	533;318;543	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	L	543	ENSP00000276440:S543L	ENSP00000276440:S543L	S	+	2	0	DOCK5	25237293	1.000000	0.71417	0.992000	0.48379	0.827000	0.46813	5.999000	0.70665	2.765000	0.95021	0.655000	0.94253	TCG		0.532	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		5	12	0	0	0	0.184627	0	5	12					T	25181376	C	T	25181376	3	4	230	1	0	0	0	0	1	0	0	0	4690	893	31	1	1694	1	DOCK5	8	25181376	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		25181376	121182646	16	27991											
UBR5	51366	broad.mit.edu	37	chr8	103297901	103297901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatgttaggtaactgCtggcgttgctagcttccaaa	11	8	0	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	ENST00000520539.1	-	39	5930	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N|UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1775					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGGTAACTGCTGGCGTTGCT	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5323-5325)aGc>aAc		ubiquitin protein ligase E3 component n-recognin 5							81	77	78					8																	103297901		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297901C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5324G>A	8.37:g.103297901C>T	ENSP00000429084:p.Ser1775Asn					UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N	p.S1775N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	5930	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1775					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5324G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318019	0.60524	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	N	0.22421	0.69	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.60682	0.878;0.878	T	0.33111	-0.9881	10	0.27785	T	0.31	.	19.8316	0.96638	0.0:1.0:0.0:0.0	.	1769;1775	E7EMW7;O95071	.;UBR5_HUMAN	N	1775;1775;1769	ENSP00000429084:S1775N;ENSP00000220959:S1775N;ENSP00000427819:S1769N	ENSP00000220959:S1775N	S	-	2	0	UBR5	103367077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.687000	0.91594	0.563000	0.77884	AGC		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		19	77	0	0	0	0.557998	0	19	77					T	103297901	C	T	103297901	3	4	230	1	0	0	0	0	1	0	0	0	16902	797	28	2	3159	2	UBR5	8	103297901	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	78116525	103297901	43066121	17	27992											
SLC30A8	169026	broad.mit.edu	37	chr8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcatcgtttccagctgcGcagtggcggccaacattgtg	12	11	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	ENST00000456015.2	+	4	553	c.553G>A	c.(553-555)Gca>Aca	p.A185T	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A136T	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(406-408)Gca>Aca		solute carrier family 30 (zinc transporter), member 8							191	160	171					8																	118170064		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170064G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.553G>A	8.37:g.118170064G>A	ENSP00000415011:p.Ala185Thr					SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T	p.A136T	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	840	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		185					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.406G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235757	0.79800	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.77	5.77	0.91146	.	0.104565	0.64402	D	0.000004	T	0.78065	0.4225	M	0.62154	1.92	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.79009	-0.1978	10	0.87932	D	0	-4.4463	18.9751	0.92733	0.0:0.0:1.0:0.0	.	185	Q8IWU4	ZNT8_HUMAN	T	136;136;136;185	ENSP00000428545:A136T;ENSP00000407505:A136T;ENSP00000431069:A136T;ENSP00000415011:A185T	ENSP00000407505:A136T	A	+	1	0	SLC30A8	118239245	1.000000	0.71417	0.913000	0.36048	0.111000	0.19643	9.869000	0.99810	2.722000	0.93159	0.655000	0.94253	GCA		0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		17	89	0	0	0	0.539581	0	17	89					A	118170064	G	A	118170064	3	1	230	1	0	0	0	0	1	0	0	0	14561	1087	38	1	567	1	SLC30A8	8	118170064	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	14872163	118170064	28193958	18	27993											
ENPP2	5168	broad.mit.edu	37	chr8	120628508	120628508	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataaatgcaaaacttaccggTtgacctccccaccatctatg	5	13	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	ENST00000075322.6	-	8	832	c.774A>T	c.(772-774)caA>caT	p.Q258H	ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H|ENPP2_ENST00000427067.2_Missense_Mutation_p.Q254H|ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	258					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(760-762)caA>caT		ectonucleotide pyrophosphatase/phosphodiesterase 2							157	137	144					8																	120628508		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120628508T>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"autotaxin"	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.774A>T	8.37:g.120628508T>A	ENSP00000075322:p.Gln258His					ENPP2_ENST00000075322.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H	p.Q254H			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	942	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		258			Substrate binding (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.762A>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902938	0.52227	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.55	-1.19	0.09585	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80732	0.4679	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.99;0.99;0.983	T	0.79813	-0.1645	10	0.87932	D	0	.	12.4371	0.55604	0.0:0.5728:0.0:0.4272	.	258;258;258	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	H	258;254;258;258;240	ENSP00000259486:Q258H;ENSP00000403315:Q254H;ENSP00000428291:Q258H;ENSP00000075322:Q258H;ENSP00000428304:Q240H	ENSP00000075322:Q258H	Q	-	3	2	ENPP2	120697689	0.928000	0.31464	0.996000	0.52242	0.201000	0.24016	0.022000	0.13511	-0.206000	0.10203	-0.371000	0.07208	CAA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			10	62	0	0	0	0.361761	0	10	62					A	120628508	T	A	120628508	3	1	230	1	0	0	0	0	1	0	0	0	5130	1722	60	5	2128	5	ENPP2	8	120628508	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2458444	120628508	25735514	19	27994											
FAM154A	158297	broad.mit.edu	37	chr9	18928829	18928829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacaaagcgcttctccaCggggtgggccacatagctca	11	13	2	0	rs117915008	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	ENST00000380534.4	-	4	925	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	216										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507													C|||	3	0.000599042	0.0	0.0	5008	,	,		19568	0.001		0.0	False		,,,				2504	0.002					ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(646-648)Gtg>Atg		family with sequence similarity 154, member A							96	98	98					9																	18928829		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928829C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.646G>A	9.37:g.18928829C>T	ENSP00000369907:p.Val216Met					FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	p.V216M	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	925	-			216					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.646G>A	CCDS6487.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.234	0.599856	0.13939	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.18960	2.18;2.18	5.09	-10.2	0.00374	.	1.409270	0.04282	N	0.344092	T	0.06872	0.0175	N	0.04297	-0.235	0.09310	N	1	B	0.24043	0.096	B	0.21917	0.037	T	0.23332	-1.0191	10	0.32370	T	0.25	0.985	3.0495	0.06165	0.2059:0.5163:0.1782:0.0996	.	216	Q8IYX7	F154A_HUMAN	M	216;24	ENSP00000369907:V216M;ENSP00000438823:V24M	ENSP00000369907:V216M	V	-	1	0	FAM154A	18918829	0.000000	0.05858	0.000000	0.03702	0.931000	0.56810	-1.654000	0.01984	-3.043000	0.00262	-0.827000	0.03088	GTG		0.507	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		15	73	0	0	0	0.500413	0	15	73					T	18928829	C	T	18928829	3	4	230	1	0	0	0	0	1	0	0	0	5463	536	19	1	782	1	FAM154A	9	18928829	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		18928829	122284602	20	27995											
ARMC3	219681	broad.mit.edu	37	chr10	23248333	23248333	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttttgatacacagaagaaGtagttatccatgagtttgct	8	5	0	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	ENST00000298032.5	+	6	451	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	123						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						CACAGAAGAAGTAGTTATCCA	0.363																																						ENST00000298032.5																			0				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						c.(367-369)Gta>Cta		armadillo repeat containing 3							61	59	60					10																	23248333		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23248333G>C	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.367G>C	10.37:g.23248333G>C	ENSP00000298032:p.Val123Leu					ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR	p.V123L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			6	451	+			123					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.367G>C	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841979	0.32513	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000447081	T;T;T;T	0.50277	0.84;0.84;1.47;0.75	5.24	1.31	0.21738	Armadillo-like helical (1);Armadillo-type fold (1);	0.626214	0.16901	N	0.194886	T	0.37758	0.1015	L	0.47716	1.5	0.80722	D	1	B;B;P	0.49090	0.313;0.047;0.919	B;B;B	0.42851	0.14;0.031;0.4	T	0.11665	-1.0578	10	0.21540	T	0.41	-21.0985	9.2664	0.37643	0.2907:0.0:0.7093:0.0	.	123;35;123	Q5W041-4;C9JC46;Q5W041	.;.;ARMC3_HUMAN	L	123;123;123;123;35	ENSP00000298032:V123L;ENSP00000386943:V123L;ENSP00000387288:V123L;ENSP00000396629:V35L	ENSP00000298032:V123L	V	+	1	0	ARMC3	23288339	1.000000	0.71417	0.918000	0.36340	0.966000	0.64601	1.991000	0.40727	0.314000	0.23086	-0.140000	0.14226	GTA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		4	43	0	0	0	0.150653	0	4	43					C	23248333	G	C	23248333	3	2	230	1	0	0	0	0	1	0	0	0	952	1029	36	4	385	4	ARMC3	10	23248333	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23248333	112286414	21	27996											
ANKRD30A	91074	broad.mit.edu	37	chr10	37442521	37442521	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgtgagactgtttcaCagaaggatgtgtgtttaccc	11	8	2	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	ENST00000602533.1	+	13	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q521K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	577					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1561-1563)Cag>Aag		ankyrin repeat domain 30A							120	121	121					10																	37442521		1797	4064	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442521C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1561C>A	10.37:g.37442521C>A	ENSP00000473551:p.Gln521Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K	p.Q521K			Q9BXX3	AN30A_HUMAN			13	1660	+			577					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1561C>A		.	.	.	.	.	.	.	.	.	.	.	1.026	-0.683274	0.03353	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05996	3.36;3.36	1.32	1.32	0.21799	.	.	.	.	.	T	0.09642	0.0237	L	0.34521	1.04	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.28554	-1.0040	9	0.66056	D	0.02	.	6.0892	0.19985	0.0:1.0:0.0:0.0	.	577	Q9BXX3	AN30A_HUMAN	K	521	ENSP00000354432:Q521K;ENSP00000363792:Q521K	ENSP00000354432:Q521K	Q	+	1	0	ANKRD30A	37482527	0.019000	0.18553	0.003000	0.11579	0.013000	0.08279	-0.257000	0.08745	1.040000	0.40099	0.384000	0.25694	CAG		0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		15	95	1	0	1.33834e-09	0.557998	1.38884e-09	15	95					A	37442521	C	A	37442521	3	1	230	1	0	0	0	0	1	0	0	0	658	479	17	4	1611	4	ANKRD30A	10	37442521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	14194188	37442521	98092226	22	27997											
OR5A1	219982	broad.mit.edu	37	chr11	59211138	59211138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgatccaggccagctccaTatttaggcttcacttttgcg	8	13	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	ENST00000302030.2	+	1	522	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	166						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(496-498)aTa>aCa		olfactory receptor, family 5, subfamily A, member 1							265	257	259					11																	59211138		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211138T>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.497T>C	11.37:g.59211138T>C	ENSP00000303096:p.Ile166Thr						p.I166T	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	522	+			166					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.497T>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288328	0.05605	.	.	ENSG00000172320	ENST00000302030	T	0.00018	9.08	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00144	0.0004	N	0.16790	0.44	0.09310	N	1	P	0.39809	0.689	P	0.52031	0.688	T	0.52260	-0.8599	10	0.02654	T	1	-22.7241	10.4431	0.44477	0.0:0.0758:0.0:0.9242	.	166	Q8NGJ0	OR5A1_HUMAN	T	166	ENSP00000303096:I166T	ENSP00000303096:I166T	I	+	2	0	OR5A1	58967714	0.000000	0.05858	0.989000	0.46669	0.195000	0.23768	0.218000	0.17622	2.288000	0.76882	0.528000	0.53228	ATA		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		44	294	0	0	0	0.870114	0	44	294					C	59211138	T	C	59211138	3	2	230	1	0	0	0	0	1	0	0	0	11139	1406	49	3	499	3	OR5A1	11	59211138	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		59211138	75795378	23	27998											
CHRM1	1128	broad.mit.edu	37	chr11	62677198	62677198	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggggactatcagcattGgcgggagggagtgcggtgca	20	6	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	ENST00000306960.3	-	2	1916	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	459					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	TATCAGCATTGGCGGGAGGGA	0.682																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1375-1377)Caa>Taa		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						70	78	75					11																	62677198		2201	4298	6499	SO:0001587	stop_gained	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677198G>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1375C>T	11.37:g.62677198G>A	ENSP00000306490:p.Gln459*					AP000438.2_ENST00000543624.1_RNA	p.Q459*	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	1916	-			459					Q96RH1	Nonsense_Mutation	SNP	ENST00000306960.3	37	c.1375C>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	39	7.636059	0.98403	.	.	ENSG00000168539	ENST00000306960	.	.	.	4.53	4.53	0.55603	.	0.456851	0.16062	N	0.231450	.	.	.	.	.	.	0.27385	N	0.95531	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.9698	9.9286	0.41507	0.0:0.0:0.7971:0.2029	.	.	.	.	X	459	.	ENSP00000306490:Q459X	Q	-	1	0	CHRM1	62433774	0.976000	0.34144	0.994000	0.49952	0.964000	0.63967	1.758000	0.38410	2.323000	0.78572	0.561000	0.74099	CAA		0.682	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		19	95	0	0	0	0.557998	0	19	95					A	62677198	G	A	62677198	4	1	230	1	0	0	0	0	0	1	0	0	3376	1357	47	2	11	2	CHRM1	11	62677198	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	3466060	62677198	72329318	24	27999											
AKAP3	10566	broad.mit.edu	37	chr12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcctggaacatgcagagaCggtctcattcacaagctctg	9	11	3	1	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	ENST00000545990.2	-	5	1071	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	183					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(547-549)Gtc>Atc		A kinase (PRKA) anchor protein 3		C	ILE/VAL	0,4406		0,0,2203	140	130	133		547	4.8	0.1	12	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense	AKAP3	NM_006422.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	183/854	4737521	2,13004	2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737521C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.547G>A	12.37:g.4737521C>T	ENSP00000440994:p.Val183Ile					AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I	p.V183I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1071	-			183					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.547G>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940079	0.34283	0.0	2.33E-4	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11930	2.73;2.73	4.75	4.75	0.60458	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.52532	D	0.000070	T	0.17704	0.0425	M	0.78049	2.395	0.09310	N	0.999999	P	0.52577	0.954	B	0.40741	0.339	T	0.36114	-0.9761	10	0.87932	D	0	.	9.1003	0.36664	0.0:0.9018:0.0:0.0982	.	183	O75969	AKAP3_HUMAN	I	183	ENSP00000228850:V183I;ENSP00000440994:V183I	ENSP00000228850:V183I	V	-	1	0	AKAP3	4607782	0.615000	0.27026	0.095000	0.20976	0.224000	0.24922	1.295000	0.33377	2.615000	0.88500	0.650000	0.86243	GTC		0.478	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		25	118	0	0	0	0.654019	0	25	118					T	4737521	C	T	4737521	3	4	230	1	0	0	0	0	1	0	0	0	452	536	19	1	2022	1	AKAP3	12	4737521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		4737521	129114374	25	28000											
ANAPC5	51433	broad.mit.edu	37	chr12	121769171	121769171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtgctggagacacacGtgatcgttggactcctgggc	13	10	0	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:121769171G>A	ENST00000261819.3	-	8	1132	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000536366.1_Intron|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000535482.1_De_novo_Start_OutOfFrame|ANAPC5_ENST00000544314.1_Intron	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	337					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)					GGAGACACACGTGATCGTTGG	0.488																																						ENST00000535482.1																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31								anaphase promoting complex subunit 5							117	92	100					12																	121769171		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121769171G>A	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.1011C>T	12.37:g.121769171G>A						ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000544314.1_Intron|ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000261819.3_Silent_p.H337H|ANAPC5_ENST00000536366.1_Intron				Q9UJX4	APC5_HUMAN			0	23	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							E9PFB2|Q8N4H7|Q9BQD4	Translation_Start_Site	SNP	ENST00000261819.3	37		CCDS9220.1																																																																																				0.488	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			9	27	0	0	0	0.335167	0	9	27					A	121769171	G	A	121769171	2	1	230	1	0	0	0	0	0	0	0	1	605	1136	40	1		1	ANAPC5	12	121769171	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08	117031650	121769171	12082724	26	28001											
COL4A1	1282	broad.mit.edu	37	chr13	110813712	110813712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgcaggcagctgccggcCgtgcctagacaaggaagaag	15	11	0	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	ENST00000375820.4	-	49	4588	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1489	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				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)			AGCTGCCGGCCGTGCCTAGAC	0.438																																						ENST00000375820.4																			0				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						c.(4465-4467)acG>acA		collagen, type IV, alpha 1							67	53	58					13																	110813712		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110813712C>T	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.4467G>A	13.37:g.110813712C>T						COL4A1_ENST00000467182.1_5'UTR	p.T1489T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		49	4588	-	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)	1489			Collagen IV NC1.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.4467G>A	CCDS9511.1																																																																																				0.438	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			3	17	0	0	0	0.115264	0	3	17					T	110813712	C	T	110813712	2	4	230	1	0	0	0	0	0	0	0	1	3689	639	23	1		1	COL4A1	13	110813712	Silent	SNP	C	TCGA-HT-7467-01A-11D-2024-08		110813712	4356166	27	28002											
REM2	161253	broad.mit.edu	37	chr14	23354154	23354154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgggggagagcggcgtGggcaagagcaccctagcagg	19	9	0	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	ENST00000267396.4	+	2	498	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_ENST00000536884.1_Silent_p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	125					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(373-375)gtG>gtA		RAS (RAD and GEM)-like GTP binding 2							48	53	51					14																	23354154		2108	4232	6340	SO:0001819	synonymous_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354154G>A		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.375G>A	14.37:g.23354154G>A						REM2_ENST00000536884.1_Silent_p.V125V	p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	498	+	all_cancers(95;4.69e-05)		125					B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	37	c.375G>A	CCDS45082.1																																																																																				0.607	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		15	49	0	0	0	0.457914	0	15	49					A	23354154	G	A	23354154	2	1	230	1	0	0	0	0	0	0	0	1	13223	1335	47	2		2	REM2	14	23354154	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23354154	83995386	28	28003											
AP1G2	8906	broad.mit.edu	37	chr14	24035874	24035874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgaatctggaggaggCgatcagtttcaggcactcca	13	9	4	1	rs533882993		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	ENST00000308724.5	-	2	981	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	76					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(226-228)Gcc>Acc		adaptor-related protein complex 1, gamma 2 subunit							142	131	135					14																	24035874		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035874C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.226G>A	14.37:g.24035874C>T	ENSP00000312442:p.Ala76Thr					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T	p.A76T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	2	981	-	all_cancers(95;0.000251)		76					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.226G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048452	0.93740	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.79	4.79	0.61399	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88377	2.95	0.80722	D	1	D	0.67145	0.996	D	0.64237	0.923	T	0.67929	-0.5543	10	0.66056	D	0.02	-15.2859	15.3764	0.74607	0.0:1.0:0.0:0.0	.	76	O75843	AP1G2_HUMAN	T	76	ENSP00000312442:A76T;ENSP00000380309:A76T;ENSP00000452153:A76T;ENSP00000451504:A76T	ENSP00000312442:A76T	A	-	1	0	AP1G2	23105714	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.297000	0.65704	2.503000	0.84419	0.491000	0.48974	GCC		0.527	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		18	114	0	0	0	0.557998	0	18	114					T	24035874	C	T	24035874	3	4	230	1	0	0	0	0	1	0	0	0	733	768	27	1	2211	1	AP1G2	14	24035874	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	681720	24035874	83313666	29	28004											
SLC43A2	124935	broad.mit.edu	37	chr17	1516558	1516558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgatgaagatgagcacGgagagagctgcagggacatg	18	6	0	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	ENST00000301335.5	-	5	520	c.432C>T	c.(430-432)tcC>tcT	p.S144S	snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000382147.4_Silent_p.S144S|SLC43A2_ENST00000571650.1_Silent_p.S144S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	144					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(430-432)tcC>tcT		solute carrier family 43 (amino acid system L transporter), member 2							87	74	78					17																	1516558		2203	4300	6503	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1516558G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.432C>T	17.37:g.1516558G>A						SLC43A2_ENST00000382147.4_Silent_p.S144S|SLC43A2_ENST00000301335.4_Silent_p.S144S	p.S144S			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	5	738	-			144					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.432C>T	CCDS11006.1																																																																																				0.552	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		4	25	0	0	0	0.217242	0	4	25					A	1516558	G	A	1516558	2	1	230	1	0	0	0	0	0	0	0	1	14633	1103	39	1		1	SLC43A2	17	1516558	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		1516558	79678652	30	28005											
LAMA3	3909	broad.mit.edu	37	chr18	21364088	21364088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcgatgtgatacctgcCgctctggtttctactcattc	8	14	3	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	ENST00000313654.9	+	12	1811	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	524	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)					TGATACCTGCCGCTCTGGTTT	0.498																																						ENST00000313654.9																			0				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						c.(1570-1572)Cgc>Tgc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153	160	158					18																	21364088		1967	4132	6099	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21364088C>T	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.1570C>T	18.37:g.21364088C>T	ENSP00000324532:p.Arg524Cys					LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			12	1811	+	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)		524			Domain V.|Laminin EGF-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1570C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228556	0.58777	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.34859	1.34;1.34	5.64	3.63	0.41609	EGF-like, laminin (4);	.	.	.	.	T	0.57036	0.2026	M	0.85373	2.75	0.41713	D	0.989464	B;D;D	0.89917	0.175;1.0;1.0	B;D;P	0.65874	0.011;0.939;0.908	T	0.60742	-0.7203	9	0.59425	D	0.04	.	7.3231	0.26539	0.3158:0.5993:0.0:0.0849	.	526;524;524	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	C	524;524;522;526	ENSP00000324532:R524C;ENSP00000382432:R524C	ENSP00000324532:R524C	R	+	1	0	LAMA3	19618086	0.084000	0.21492	0.910000	0.35882	0.930000	0.56654	0.974000	0.29436	1.355000	0.45865	0.650000	0.86243	CGC		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		26	153	0	0	0	0.654019	0	26	153					T	21364088	C	T	21364088	3	4	230	1	0	0	0	0	1	0	0	0	8607	652	23	1	1616	1	LAMA3	18	21364088	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		21364088	56713160	31	28006											
OR2Z1	284383	broad.mit.edu	37	chr19	8841797	8841797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtatcctgtacttaTgagacgccaggtatgtctgc	10	11	1	1	rs566429260		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	ENST00000324060.2	+	1	482	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136						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)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547													T|||	1	0.000199681	0.0	0.0	5008	,	,		21802	0.0		0.0	False		,,,				2504	0.001					ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(406-408)aTg>aCg		olfactory receptor, family 2, subfamily Z, member 1							151	120	131					19																	8841797		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841797T>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.407T>C	19.37:g.8841797T>C	ENSP00000316284:p.Met136Thr						p.M136T	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	482	+			136					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.407T>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628203	0.28978	.	.	ENSG00000181733	ENST00000324060	T	0.00578	6.44	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.05135	0.0137	H	0.98089	4.145	0.29223	N	0.873783	D	0.76494	0.999	D	0.68765	0.96	T	0.07347	-1.0777	10	0.87932	D	0	.	11.9172	0.52771	0.0:0.0:0.0:1.0	.	136	Q8NG97	OR2Z1_HUMAN	T	136	ENSP00000316284:M136T	ENSP00000316284:M136T	M	+	2	0	OR2Z1	8702797	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	5.128000	0.64733	1.772000	0.52199	0.444000	0.29173	ATG		0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			24	98	0	0	0	0.667858	0	24	98					C	8841797	T	C	8841797	3	2	230	1	0	0	0	0	1	0	0	0	11036	1464	51	3	409	3	OR2Z1	19	8841797	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		8841797	50287186	32	28007											
RYR1	6261	broad.mit.edu	37	chr19	39055678	39055678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatggagctcttcgtgaGtttctgcgaggacaccatct	12	9	3	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	ENST00000359596.3	+	91	12704	c.12704G>A	c.(12703-12705)aGt>aAt	p.S4235N	RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N|RYR1_ENST00000355481.4_Missense_Mutation_p.S4230N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4235					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)	CTCTTCGTGAGTTTCTGCGAG	0.657																																						ENST00000355481.4																			0				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						c.(12688-12690)aGt>aAt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						29	23	26					19																	39055678		2198	4295	6493	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39055678G>A	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.12704G>A	19.37:g.39055678G>A	ENSP00000352608:p.Ser4235Asn					RYR1_ENST00000359596.3_Missense_Mutation_p.S4235N|RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N	p.S4230N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		90	12820	+	all_cancers(60;7.91e-06)		4235					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12689G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180148	0.38511	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96265	-3.96;-3.96;-3.96	3.07	3.07	0.35406	.	0.067594	0.56097	U	0.000030	T	0.81059	0.4744	N	0.00811	-1.165	0.34478	D	0.703513	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.78257	-0.2274	10	0.02654	T	1	.	4.4677	0.11698	0.3253:0.0:0.6747:0.0	.	4230;4230;4235	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	4235;4230;4230	ENSP00000352608:S4235N;ENSP00000347667:S4230N;ENSP00000354254:S4230N	ENSP00000347667:S4230N	S	+	2	0	RYR1	43747518	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.044000	0.71012	1.744000	0.51775	0.505000	0.49811	AGT		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	1	0	0	0	0.150653	0	4	1					A	39055678	G	A	39055678	3	1	230	1	0	0	0	0	1	0	0	0	13768	1029	36	2	13066	2	RYR1	19	39055678	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	30213881	39055678	20073305	33	28008											
PTPRH	5794	broad.mit.edu	37	chr19	55693461	55693461	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggagaccctcggactGcagctgccggagcaggacgt	14	14	0	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	ENST00000376350.3	-	19	3143	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*|SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1041	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	p.Q1041E(1)		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)		CCCTCGGACTGCAGCTGCCGG	0.607																																						ENST00000376350.3																			1	Substitution - Missense(1)	p.Q1041E(1)	prostate(1)	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						c.(3121-3123)Cag>Tag		protein tyrosine phosphatase, receptor type, H							91	90	91					19																	55693461		2203	4300	6503	SO:0001587	stop_gained	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693461G>A		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.3121C>T	19.37:g.55693461G>A	ENSP00000365528:p.Gln1041*					PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*	p.Q1041*	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3143	-		Renal(1328;0.245)	1041			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Nonsense_Mutation	SNP	ENST00000376350.3	37	c.3121C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981812	0.93044	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	.	.	.	4.86	-2.31	0.06765	.	0.674756	0.12226	N	0.487873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.8364	0.96659	0.0:0.3833:0.6167:0.0	.	.	.	.	X	1041;863	.	ENSP00000263434:Q863X	Q	-	1	0	PTPRH	60385273	0.127000	0.22367	0.240000	0.24138	0.269000	0.26545	0.074000	0.14662	-0.058000	0.13177	-0.961000	0.02630	CAG		0.607	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			7	94	0	0	0	0.248553	0	7	94					A	55693461	G	A	55693461	4	1	230	1	0	0	0	0	0	1	0	0	12803	1328	46	2	234	2	PTPRH	19	55693461	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	16637783	55693461	3435522	34	28009											
PCSK2	5126	broad.mit.edu	37	chr20	17339014	17339014	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggatttgaccgaaaaaagCgaggttacagagacatcaat	10	6	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	ENST00000262545.2	+	3	640	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	109					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CCGAAAAAAGCGAGGTTACAG	0.398																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(325-327)Cga>Tga		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						184	152	163					20																	17339014		2203	4300	6503	SO:0001587	stop_gained	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17339014C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.325C>T	20.37:g.17339014C>T	ENSP00000262545:p.Arg109*					PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*	p.R109*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			3	640	+			109					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Nonsense_Mutation	SNP	ENST00000262545.2	37	c.325C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	37	6.299487	0.97453	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	6.17	1.61	0.23674	.	0.062081	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6861	15.4355	0.75143	0.7018:0.2982:0.0:0.0	.	.	.	.	X	90;109;74	.	ENSP00000262545:R109X	R	+	1	2	PCSK2	17287014	0.993000	0.37304	0.997000	0.53966	0.475000	0.33008	0.341000	0.19909	0.035000	0.15519	-0.953000	0.02652	CGA		0.398	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		7	54	0	0	0	0.248553	0	7	54					T	17339014	C	T	17339014	4	4	230	1	0	0	0	0	0	1	0	0	11601	760	27	1	335	1	PCSK2	20	17339014	Nonsense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17339014	45686506	35	28010											
TMEM189-UBE2V1	7335	broad.mit.edu	37	chr20	48700714	48700714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattaatttttgttacaaaTcttacaaaggggggtgcttc	8	5	1	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	ENST00000371674.3	-	3	293	c.249A>G	c.(247-249)agA>agG	p.R83R	TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189_ENST00000557021.1_Silent_p.R306R|UBE2V1_ENST00000340309.3_Silent_p.R106R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000415862.2_Silent_p.R39R	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	83					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|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 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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			TTGTTACAAATCTTACAAAGG	0.358																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(916-918)agA>agG		transmembrane protein 189							96	105	102					20																	48700714		2203	4300	6503	SO:0001819	synonymous_variant	387521							g.chr20:48700714T>C	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"Ubiquitin-conjugating enzymes E2"	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.249A>G	20.37:g.48700714T>C						UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Silent_p.R39R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000371674.3_Silent_p.R83R|UBE2V1_ENST00000340309.3_Silent_p.R106R	p.R306R	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		7	1078	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Silent	SNP	ENST00000371674.3	37	c.918A>G	CCDS33483.1																																																																																				0.358	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		23	108	0	0	0	0.608945	0	23	108					C	48700714	T	C	48700714	2	2	230	1	0	0	0	0	0	0	0	1	16109	1432	50	3		3	TMEM189-UBE2V1	20	48700714	Silent	SNP	T	TCGA-HT-7467-01A-11D-2024-08	31361700	48700714	14324806	36	28011											
CTSZ	1522	broad.mit.edu	37	chr20	57576621	57576621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccttcacaggagccaGcgttaccgcagtcgatgacg	10	15	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	ENST00000217131.5	-	3	504	c.386C>T	c.(385-387)gCt>gTt	p.A129V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	129			A -> R (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9738465}.		angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602																																						ENST00000217131.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10						c.(385-387)gCt>gTt		cathepsin Z							221	158	179					20																	57576621		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57576621G>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"Cathepsins"	2547	protein-coding gene	gene with protein product	"cathepsin X", "carboxypeptidase LB", "cathepsin IV", "cathepsin B2", "cathepsin Y", "cathepsin Z1", "cysteine-type carboxypeptidase", "lysosomal carboxypeptidase B"	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.386C>T	20.37:g.57576621G>A	ENSP00000217131:p.Ala129Val						p.A129V	NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		3	504	-	all_lung(29;0.00711)		129		A -> R (requires 2 nucleotide substitutions).			B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.386C>T	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207818	0.39003	.	.	ENSG00000101160	ENST00000217131	T	0.42513	0.97	5.26	4.32	0.51571	Peptidase C1A, papain C-terminal (2);	0.052962	0.85682	D	0.000000	T	0.38612	0.1047	L	0.53671	1.685	0.80722	D	1	P;B	0.46656	0.882;0.428	B;B	0.41619	0.361;0.141	T	0.30446	-0.9978	10	0.56958	D	0.05	.	10.3644	0.44015	0.0734:0.1349:0.7917:0.0	.	129;129	Q5U000;Q9UBR2	.;CATZ_HUMAN	V	129	ENSP00000217131:A129V	ENSP00000217131:A129V	A	-	2	0	CTSZ	57010016	1.000000	0.71417	0.013000	0.15412	0.053000	0.15095	7.847000	0.86896	1.231000	0.43661	0.555000	0.69702	GCT		0.602	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		11	57	0	0	0	0.38729	0	11	57					A	57576621	G	A	57576621	3	1	230	1	0	0	0	0	1	0	0	0	4043	971	34	2	541	2	CTSZ	20	57576621	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	8875907	57576621	5448899	37	28012											
ARID1A	8289	broad.mit.edu	37	chr1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccttgtagaatatttcCgacgatgcctgattgagatc	9	9	0	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:27105550C>T	ENST00000324856.7	+	20	5532	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1721					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)	p.R1721*(3)	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)		AGAATATTTCCGACGATGCCT	0.443			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	3	Substitution - Nonsense(3)	p.R1721*(3)	ovary(1)|large_intestine(1)|endometrium(1)	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						c.(5161-5163)Cga>Tga		AT rich interactive domain 1A (SWI-like)							184	203	196					1																	27105550		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105550C>T	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.5161C>T	1.37:g.27105550C>T	ENSP00000320485:p.Arg1721*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*	p.R1721*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	20	5532	+		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)	1721					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5161C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.126146|9.126146	0.99073|0.99073	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.060827	.|0.64402	.|D	.|0.000007	T|.	0.34745|.	0.0908|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15954|.	-1.0419|.	4|.	.|0.02654	.|T	.|1	-6.2012|-6.2012	13.2131|13.2131	0.59836|0.59836	0.159:0.841:0.0:0.0|0.159:0.841:0.0:0.0	.|.	.|.	.|.	.|.	L|X	617|1721;1504;1338;49	.|.	.|ENSP00000320485:R1721X	P|R	+|+	2|1	0|2	ARID1A|ARID1A	26978137|26978137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.413000|2.413000	0.44618|0.44618	2.622000|2.622000	0.88805|0.88805	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.443	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		22	158	0	0	0	0.014323	0	22	158					T	27105550	C	T	27105550	4	4	231	1	0	0	0	0	0	1	0	0	913	644	23	1	5239	1	ARID1A	1	27105550	Nonsense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		27105550	222145071	1	28013											
LPHN2	23266	broad.mit.edu	37	chr1	82408735	82408735	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaaaggcgggtgcttggtgCaaggaccctcttcaggctgc	14	11	2	0			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:82408735C>G	ENST00000370728.1	+	8	1125	c.480C>G	c.(478-480)tgC>tgG	p.C160W	LPHN2_ENST00000271029.4_Missense_Mutation_p.C160W|LPHN2_ENST00000370730.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370715.1_Missense_Mutation_p.C160W|LPHN2_ENST00000394879.1_Missense_Mutation_p.C160W|LPHN2_ENST00000335786.5_Missense_Mutation_p.C160W|LPHN2_ENST00000370713.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370721.1_Missense_Mutation_p.C164W|LPHN2_ENST00000370717.2_Missense_Mutation_p.C160W|LPHN2_ENST00000319517.6_Missense_Mutation_p.C160W|LPHN2_ENST00000370727.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370725.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370723.1_Missense_Mutation_p.C160W|LPHN2_ENST00000359929.3_Missense_Mutation_p.C160W|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	160	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)|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)		GTGCTTGGTGCAAGGACCCTC	0.408																																						ENST00000370728.1																			0				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						c.(478-480)tgC>tgG		latrophilin 2							79	86	84					1																	82408735		2202	4299	6501	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408735C>G	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.480C>G	1.37:g.82408735C>G	ENSP00000359763:p.Cys160Trp					LPHN2_ENST00000370730.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370721.1_Missense_Mutation_p.C164W|LPHN2_ENST00000370727.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370713.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370725.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370715.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370717.2_Missense_Mutation_p.C160W|LPHN2_ENST00000359929.3_Missense_Mutation_p.C160W|LPHN2_ENST00000370723.1_Missense_Mutation_p.C160W|LPHN2_ENST00000335786.5_Missense_Mutation_p.C160W|LPHN2_ENST00000271029.4_Missense_Mutation_p.C160W|LPHN2_ENST00000394879.1_Missense_Mutation_p.C160W|LPHN2_ENST00000319517.6_Missense_Mutation_p.C160W|LPHN2_ENST00000469377.2_Intron	p.C160W			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1125	+			160			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.480C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488013|2.488013	0.44249|0.44249	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.88896	.|-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.79|5.79	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91801|0.91801	0.7406|0.7406	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79784	.|0.993;0.986;0.993	D|D	0.92846|0.92846	0.6293|0.6293	5|10	.|0.87932	.|D	.|0	.|.	10.8162|10.8162	0.46578|0.46578	0.0:0.857:0.0:0.143|0.0:0.857:0.0:0.143	.|.	.|160;160;160	.|O95490-3;O95490-4;O95490-2	.|.;.;.	G|W	28|164;160;160;160;160;160;160;160;160;160;160;160;160;160	.|ENSP00000359756:C164W;ENSP00000359763:C160W;ENSP00000359765:C160W;ENSP00000359762:C160W;ENSP00000359760:C160W;ENSP00000359758:C160W;ENSP00000353006:C160W;ENSP00000359750:C160W;ENSP00000359748:C160W;ENSP00000322270:C160W;ENSP00000359752:C160W;ENSP00000378344:C160W;ENSP00000271029:C160W;ENSP00000337306:C160W	.|ENSP00000271029:C160W	A|C	+|+	2|3	0|2	LPHN2|LPHN2	82181323|82181323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.754000|2.754000	0.47532|0.47532	1.453000|1.453000	0.47775|0.47775	0.650000|0.650000	0.86243|0.86243	GCA|TGC		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		9	38	0	0	0	0.004482	0	9	38					G	82408735	C	G	82408735	3	3	231	1	0	0	0	0	1	0	0	0	8916	718	25	4	494	4	LPHN2	1	82408735	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	55303185	82408735	166841886	2	28014											
GALNT5	11227	broad.mit.edu	37	chr2	158152216	158152216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcatgtggaatgtaacGttggttggttggaacctctt	11	6	2	0	rs138347479		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:158152216G>A	ENST00000259056.4	+	4	2268	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	595	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAATGTAACGTTGGTTGGTT	0.358																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(1783-1785)Gtt>Att		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	287	265	272		1783	1.6	0.7	2	dbSNP_134	272	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT5	NM_014568.1	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	595/941	158152216	2,13004	2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158152216G>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1783G>A	2.37:g.158152216G>A	ENSP00000259056:p.Val595Ile						p.V595I	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			4	2268	+			595			Catalytic subdomain A.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1783G>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650098	0.47362	2.27E-4	1.16E-4	ENSG00000136542	ENST00000259056	T	0.59083	0.29	5.63	1.6	0.23607	Glycosyl transferase, family 2 (1);	0.121237	0.53938	N	0.000041	T	0.47303	0.1438	L	0.55743	1.74	0.32878	D	0.510155	B	0.30914	0.3	B	0.26094	0.066	T	0.52351	-0.8587	10	0.38643	T	0.18	.	10.0239	0.42059	0.2924:0.0:0.7076:0.0	.	595	Q7Z7M9	GALT5_HUMAN	I	595	ENSP00000259056:V595I	ENSP00000259056:V595I	V	+	1	0	GALNT5	157860462	0.985000	0.35326	0.717000	0.30585	0.994000	0.84299	1.862000	0.39448	0.066000	0.16515	0.655000	0.94253	GTT		0.358	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		8	201	0	0	0	0.004482	0	8	201					A	158152216	G	A	158152216	3	1	231	1	0	0	0	0	1	0	0	0	6216	1145	40	1	1797	1	GALNT5	2	158152216	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		158152216	85047157	3	28015											
TTN	7273	broad.mit.edu	37	chr2	179434377	179434377	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actataataggtccagggacGtcagcatgttctccaactcc	8	12	2	0	rs370908118		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:179434377G>A	ENST00000591111.1	-	276	71783	c.71559C>T	c.(71557-71559)gaC>gaT	p.D23853D	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.D25494D|TTN_ENST00000342992.6_Silent_p.D22926D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D16621D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D16554D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.D16429D|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23853	Fibronectin type-III 73. {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)			GTCCAGGGACGTCAGCATGTT	0.373																																						ENST00000589042.1																			0				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						c.(76480-76482)gaC>gaT		titin		A	,,,	0,3770		0,0,1885	76	66	69		49287,68778,49662,49863	3.3	1	2		69	2,8226		0,2,4112	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5997	AA,AG,GG		0.0243,0.0,0.0167	,,,	16429/26927,22926/33424,16554/27052,16621/27119	179434377	2,11996	1885	4114	5999	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434377G>A	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.71559C>T	2.37:g.179434377G>A						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D23853D|TTN_ENST00000342175.6_Silent_p.D16621D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.D16429D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.D22926D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.D16554D	p.D25494D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76706	-			23853			Fibronectin type-III 85.		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	ENST00000591111.1	37	c.76482C>T																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	17	0	0	0	0.014758	0	5	17					A	179434377	G	A	179434377	2	1	231	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179434377	Silent	SNP	G	TCGA-HT-7468-01A-11D-2024-08	21282161	179434377	63764996	4	28016											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	48	0	0	0	0.009535	0	27	48					T	209113112	C	T	209113112	3	4	231	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	29678735	209113112	34086261	5	28017											
SCN11A	11280	broad.mit.edu	37	chr3	38936278	38936278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgctgtggtaagttttGcttcctgcaccacttgtgac	9	9	0	1			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:38936278G>T	ENST00000302328.3	-	15	2779	c.2581C>A	c.(2581-2583)Caa>Aaa	p.Q861K	SCN11A_ENST00000450244.1_Missense_Mutation_p.Q861K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q861K|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q861K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	861					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)	GGTAAGTTTTGCTTCCTGCAC	0.488																																						ENST00000302328.3																			0				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						c.(2581-2583)Caa>Aaa		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						105	103	103					3																	38936278		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936278G>T	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.2581C>A	3.37:g.38936278G>T	ENSP00000307599:p.Gln861Lys					SCN11A_ENST00000450244.1_Missense_Mutation_p.Q861K|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q861K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q861K	p.Q861K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2779	-			861					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2581C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	2.845	-0.239541	0.05944	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.19	2.07	0.26955	Sodium ion transport-associated (1);	1.088120	0.07134	N	0.846066	T	0.66479	0.2793	L	0.28274	0.84	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.50816	-0.8783	10	0.26408	T	0.33	.	3.1299	0.06419	0.0844:0.2412:0.409:0.2653	.	861	Q9UI33	SCNBA_HUMAN	K	861	ENSP00000307599:Q861K;ENSP00000400945:Q861K;ENSP00000416757:Q861K;ENSP00000408028:Q861K	ENSP00000307599:Q861K	Q	-	1	0	SCN11A	38911282	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-0.268000	0.08607	0.610000	0.30035	0.650000	0.86243	CAA		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		42	62	1	0	2.24722e-20	0.01441	2.60678e-20	42	62					T	38936278	G	T	38936278	3	4	231	1	0	0	0	0	1	0	0	0	13913	1328	46	4	2842	4	SCN11A	3	38936278	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		38936278	159086152	6	28018											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	9	5	2	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, 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.M1043V(22)		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)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	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						c.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97	87	91					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		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.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	44	0	0	0	0.027894	0	40	44					G	178952072	A	G	178952072	3	3	231	1	0	0	0	0	1	0	0	0	11913	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08	140015794	178952072	19070358	7	28019											
CRIPAK	285464	broad.mit.edu	37	chr4	1388948	1388948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcacacgtgcccatgtggAgtgttcgcctgctcacacgt	11	14	2	0	rs140577610	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr4:1388948A>C	ENST00000324803.4	+	1	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	217					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662													N|||	75	0.014976	0.0	0.0058	5008	,	,		12534	0.0		0.0149	False		,,,				2504	0.0573					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(649-651)Agt>Cgt		cysteine-rich PAK1 inhibitor		A	ARG/SER	6,4312		1,4,2154	209	144	167		649	-2.8	0	4	dbSNP_134	167	104,7562		37,30,3766	no	missense	CRIPAK	NM_175918.3	110	38,34,5920	CC,CA,AA		1.3566,0.139,0.9179	possibly-damaging	217/447	1388948	110,11874	2159	3833	5992	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388948A>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.649A>C	4.37:g.1388948A>C	ENSP00000323978:p.Ser217Arg						p.S217R	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3609	+			217					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.649A>C	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	a	9.985	1.229080	0.22542	0.00139	0.013566	ENSG00000179979	ENST00000324803	T	0.18657	2.2	1.41	-2.82	0.05787	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.36817	-0.9732	9	0.18276	T	0.48	.	3.3502	0.07150	0.2318:0.0:0.4562:0.312	.	217	Q8N1N5	CRPAK_HUMAN	R	217	ENSP00000323978:S217R	ENSP00000323978:S217R	S	+	1	0	CRIPAK	1378948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.649000	0.01993	-0.671000	0.05274	-0.530000	0.04314	AGT		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		4	22	0	0	0	0.009096	0	4	22					C	1388948	A	C	1388948	3	2	231	1	0	0	0	0	1	0	0	0	3877	304	11	5	651	5	CRIPAK	4	1388948	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08		1388948	189765328	8	28020											
NIPBL	25836	broad.mit.edu	37	chr5	37048690	37048693	+	Frame_Shift_Del	DEL	TCAG	TCAG	-													ttttatctgataagaactccTcagtcaatttaaaaatacaa							TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr5:37048690_37048693delTCAG	ENST00000282516.8	+	39	7175_7178	c.6676_6679delTCAG	c.(6676-6681)tcagtcfs	p.SV2226fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SV2226fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2226					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)			TAAGAACTCCTCAGTCAATTTAAA	0.353																																						ENST00000282516.8																			0				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						c.(6676-6681)tcfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37048690_37048693delTCAG	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.6676_6679delTCAG	5.37:g.37048690_37048693delTCAG	ENSP00000282516:p.Ser2226fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SV2226fs	p.SV2226fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		39	7175_7178	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2226					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.6676_6679delTCAG	CCDS3920.1																																																																																				0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		25	37						25	37	---	---	---	---	-	37048693	TCAG	-	37048690	7	5	231	1	0	1	0	1	0	0	0	0	10428	1551	54	0	6826	0	NIPBL	5	37048690	Frame_Shift_Del	DEL	TCAG	TCGA-HT-7468-01A-11D-2024-08		37048690	143866570	9	28021											
TNXB	7148	broad.mit.edu	37	chr6	32053695	32053695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcgggcacccgcatgcGcagttggaagtaggcaaagg	14	13	0	0	rs201292165		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:32053695G>A	ENST00000375244.3	-	7	3181	c.2980C>T	c.(2980-2982)Cgc>Tgc	p.R994C	TNXB_ENST00000375247.2_Missense_Mutation_p.R994C			P22105	TENX_HUMAN	tenascin XB	1081	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						ACCCGCATGCGCAGTTGGAAG	0.672																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2980-2982)Cgc>Tgc		tenascin XB		G	CYS/ARG	1,2613		0,1,1306	59	70	66		2980	0.7	0.2	6		66	1,5127		0,1,2563	yes	missense	TNXB	NM_019105.6	180	0,2,3869	AA,AG,GG		0.0195,0.0383,0.0258	probably-damaging	994/4243	32053695	2,7740	1307	2564	3871	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053695G>A	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.2980C>T	6.37:g.32053695G>A	ENSP00000364393:p.Arg994Cys					TNXB_ENST00000375247.2_Missense_Mutation_p.R994C	p.R994C			P22105	TENX_HUMAN			7	3181	-			1081			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.2980C>T		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289317	0.40494	3.83E-4	1.95E-4	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04809	3.55;3.55	3.89	0.687	0.18020	.	1.978860	0.02485	N	0.088909	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.32613	-0.9900	10	0.59425	D	0.04	.	2.8428	0.05534	0.2749:0.0:0.5098:0.2153	.	994	P22105-3	.	C	994	ENSP00000364393:R994C;ENSP00000364396:R994C	ENSP00000364393:R994C	R	-	1	0	TNXB	32161673	0.948000	0.32251	0.213000	0.23690	0.469000	0.32828	1.475000	0.35409	0.231000	0.21079	0.460000	0.39030	CGC		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		33	42	0	0	0	0.027894	0	33	42					A	32053695	G	A	32053695	3	1	231	1	0	0	0	0	1	0	0	0	16343	1087	38	1	11885	1	TNXB	6	32053695	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		32053695	139061372	10	28022											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					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)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				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						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	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.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	93						7	93	---	---	---	---	A	46660415	-	A	46660414	7	5	231	1	0	1	1	0	0	0	0	0	15731	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-HT-7468-01A-11D-2024-08	14606719	46660414	124454653	11	28023											
C7orf63	79846	broad.mit.edu	37	chr7	89929253	89929253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgataatcccaaaactgcaGctcatgtcaatgcttggcaa	8	10	2	1			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:89929253G>A	ENST00000389297.4	+	17	2181	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C7orf63_ENST00000497910.1_Missense_Mutation_p.A626T|C7orf63_ENST00000316089.8_Missense_Mutation_p.A644T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		644										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAACTGCAGCTCATGTCAA	0.348																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1930-1932)Gct>Act		chromosome 7 open reading frame 63							73	69	70					7																	89929253		1812	4086	5898	SO:0001583	missense	79846						binding	g.chr7:89929253G>A																												ENST00000389297.4:c.1930G>A	7.37:g.89929253G>A	ENSP00000373948:p.Ala644Thr					C7orf63_ENST00000497910.1_Missense_Mutation_p.A626T|C7orf63_ENST00000316089.8_Missense_Mutation_p.A644T	p.A644T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			17	2181	+			644					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1930G>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988651	0.53934	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.81	5.81	0.92471	Armadillo-type fold (1);	0.321794	0.32736	N	0.005708	T	0.44201	0.1282	M	0.73598	2.24	0.28276	N	0.924219	B;P;B	0.35272	0.056;0.493;0.328	B;B;B	0.32864	0.052;0.154;0.053	T	0.46162	-0.9211	10	0.23302	T	0.38	-8.6477	9.3216	0.37968	0.0716:0.0:0.7189:0.2095	.	626;644;644	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	T	644;644;626;227	ENSP00000373948:A644T;ENSP00000321753:A644T;ENSP00000419549:A626T;ENSP00000391571:A227T	ENSP00000321753:A644T	A	+	1	0	C7orf63	89767189	0.981000	0.34729	0.972000	0.41901	0.983000	0.72400	1.932000	0.40143	2.746000	0.94184	0.655000	0.94253	GCT		0.348	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			20	20	0	0	0	0.007413	0	20	20					A	89929253	G	A	89929253	3	1	231	1	0	0	0	0	1	0	0	0	2409	971	34	2	1996	2	C7orf63	7	89929253	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		89929253	69209410	12	28024											
SLC13A1	6561	broad.mit.edu	37	chr7	122768985	122768985	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ataatgaagaggaccaaggtCacaatttcttgatacctgtg	9	7	2	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:122768985C>T	ENST00000194130.2	-	10	1086	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	349					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGACCAAGGTCACAATTTCTT	0.418																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1045-1047)gtG>gtA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						77	67	71					7																	122768985		2203	4300	6503	SO:0001819	synonymous_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122768985C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1047G>A	7.37:g.122768985C>T						SLC13A1_ENST00000539873.1_3'UTR	p.V349V	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			10	1086	-			349					Q9H5Z0	Silent	SNP	ENST00000194130.2	37	c.1047G>A	CCDS5786.1																																																																																				0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		13	20	0	0	0	0.013537	0	13	20					T	122768985	C	T	122768985	2	4	231	1	0	0	0	0	0	0	0	1	14391	813	29	2		2	SLC13A1	7	122768985	Silent	SNP	C	TCGA-HT-7468-01A-11D-2024-08	32839732	122768985	36369678	13	28025											
BRSK2	9024	broad.mit.edu	37	chr11	1477639	1477639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccgagtacaaggccaCgggggggccagccgtgttcc	17	14	0	0			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:1477639C>T	ENST00000528841.1	+	17	2114	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	BRSK2_ENST00000308230.5_Missense_Mutation_p.T599M|BRSK2_ENST00000528710.1_Missense_Mutation_p.T517M|BRSK2_ENST00000526678.1_Missense_Mutation_p.T599M|BRSK2_ENST00000308219.9_Missense_Mutation_p.T577M|BRSK2_ENST00000544817.1_Missense_Mutation_p.T272M|BRSK2_ENST00000382179.1_Missense_Mutation_p.T623M|BRSK2_ENST00000531197.1_Missense_Mutation_p.T577M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	577					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)		TACAAGGCCACGGGGGGGCCA	0.622																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(1729-1731)aCg>aTg		BR serine/threonine kinase 2							21	26	24					11																	1477639		2019	4171	6190	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1477639C>T	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.1730C>T	11.37:g.1477639C>T	ENSP00000432000:p.Thr577Met					BRSK2_ENST00000528841.1_Missense_Mutation_p.T577M|BRSK2_ENST00000382179.1_Missense_Mutation_p.T623M|BRSK2_ENST00000544817.1_Missense_Mutation_p.T272M|BRSK2_ENST00000531197.1_Missense_Mutation_p.T577M|BRSK2_ENST00000308230.5_Missense_Mutation_p.T599M|BRSK2_ENST00000528710.1_Missense_Mutation_p.T517M|BRSK2_ENST00000526678.1_Missense_Mutation_p.T599M	p.T577M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	17	2116	+		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)	577					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1730C>T	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	c	14.41	2.528121	0.44969	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.73575	-0.72;-0.74;-0.76;-0.74;-0.76;-0.55;-0.59;0.83	3.67	3.67	0.42095	.	0.365582	0.26109	U	0.026295	T	0.76807	0.4039	L	0.52573	1.65	0.49213	D	0.99976	P;D;P;P;P	0.56968	0.929;0.978;0.88;0.888;0.81	P;P;P;B;B	0.51742	0.678;0.609;0.475;0.378;0.316	T	0.81289	-0.1000	10	0.87932	D	0	.	15.5722	0.76349	0.0:1.0:0.0:0.0	.	599;623;577;577;577	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	M	577;577;599;577;599;517;623;272	ENSP00000310697:T577M;ENSP00000431152:T577M;ENSP00000310805:T599M;ENSP00000432000:T577M;ENSP00000433370:T599M;ENSP00000433235:T517M;ENSP00000371614:T623M;ENSP00000445168:T272M	ENSP00000310697:T577M	T	+	2	0	BRSK2	1434215	0.840000	0.29493	0.932000	0.37286	0.431000	0.31685	3.660000	0.54496	1.877000	0.54381	0.457000	0.33378	ACG		0.622	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		4	13	0	0	0	0.009096	0	4	13					T	1477639	C	T	1477639	3	4	231	1	0	0	0	0	1	0	0	0	1524	536	19	1	1796	1	BRSK2	11	1477639	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		1477639	133528877	14	28026											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792899	21792899	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcagggtgagaatctttttGaactgcacatccaccaggcc	9	11	2	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr14:21792899G>A	ENST00000400017.2	+	14	1885	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E629K|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591K|RPGRIP1_ENST00000307974.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	629					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)		GAATCTTTTTGAACTGCACAT	0.498																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1885-1887)Gaa>Aaa		retinitis pigmentosa GTPase regulator interacting protein 1							132	126	128					14																	21792899		2027	4188	6215	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21792899G>A	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.1885G>A	14.37:g.21792899G>A	ENSP00000382895:p.Glu629Lys					RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591K|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E629K	p.E629K			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	1885	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	629					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1885G>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989105	0.93106	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	M	0.76328	2.33	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;0.997;0.997;0.996	D	0.95101	0.8230	10	0.72032	D	0.01	-22.7131	18.396	0.90499	0.0:0.0:1.0:0.0	.	12;104;245;629	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	K	591;629;629;104;91	ENSP00000451219:E591K;ENSP00000382895:E629K;ENSP00000206660:E629K;ENSP00000451262:E104K;ENSP00000450426:E91K	ENSP00000206660:E629K	E	+	1	0	RPGRIP1	20862739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.545000	0.90657	2.882000	0.98803	0.655000	0.94253	GAA		0.498	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		5	94	0	0	0	0.014758	0	5	94					A	21792899	G	A	21792899	3	1	231	1	0	0	0	0	1	0	0	0	13549	1291	45	2	1939	2	RPGRIP1	14	21792899	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		21792899	85556641	15	28027											
C17orf53	78995	broad.mit.edu	37	chr17	42225428	42225428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctccctgcctccagcaCgcccagtgctgacagccgtc	9	20	0	1	rs563980398		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr17:42225428C>T	ENST00000319977.4	+	3	494	c.257C>T	c.(256-258)aCg>aTg	p.T86M	C17orf53_ENST00000245382.6_Missense_Mutation_p.T86M|C17orf53_ENST00000585683.1_Missense_Mutation_p.T86M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	86										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)		GCCTCCAGCACGCCCAGTGCT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19161	0.0		0.0	False		,,,				2504	0.001					ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(256-258)aCg>aTg		chromosome 17 open reading frame 53							84	73	76					17																	42225428		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225428C>T	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.257C>T	17.37:g.42225428C>T	ENSP00000313500:p.Thr86Met					C17orf53_ENST00000585683.1_Missense_Mutation_p.T86M|C17orf53_ENST00000245382.6_Missense_Mutation_p.T86M	p.T86M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	494	+		Breast(137;0.0364)|Prostate(33;0.0376)	86					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.257C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513158	0.00975	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.40225	1.04;1.04	4.68	1.11	0.20524	.	1.059490	0.07253	N	0.866199	T	0.11665	0.0284	N	0.00413	-1.525	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.13407	0.009;0.0;0.009	T	0.26326	-1.0106	10	0.14252	T	0.57	-0.1606	4.7069	0.12855	0.0:0.1771:0.1617:0.6612	.	86;86;86	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	M	86	ENSP00000313500:T86M;ENSP00000245382:T86M	ENSP00000245382:T86M	T	+	2	0	C17orf53	39580954	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.190000	0.09615	-0.009000	0.14296	-0.340000	0.08031	ACG		0.602	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		39	66	0	0	0	0.00874	0	39	66					T	42225428	C	T	42225428	3	4	231	1	0	0	0	0	1	0	0	0	1862	536	19	1	267	1	C17orf53	17	42225428	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		42225428	38969782	16	28028											
JAK3	3718	broad.mit.edu	37	chr19	17945744	17945744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgaagccccacttgtcagCttccaagctaagtgtctgcg	10	14	2	0			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:17945744C>A	ENST00000527670.1	-	15	2145	c.2116G>T	c.(2116-2118)Gct>Tct	p.A706S	JAK3_ENST00000534444.1_Missense_Mutation_p.A706S|JAK3_ENST00000458235.1_Missense_Mutation_p.A706S			P52333	JAK3_HUMAN	Janus kinase 3	706	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CACTTGTCAGCTTCCAAGCTA	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2116-2118)Gct>Tct		Janus kinase 3							67	71	70					19																	17945744		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945744C>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2116G>T	19.37:g.17945744C>A	ENSP00000432511:p.Ala706Ser					JAK3_ENST00000527670.1_Missense_Mutation_p.A706S|JAK3_ENST00000534444.1_Missense_Mutation_p.A706S	p.A706S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			16	2215	-			706			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2116G>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760489	0.31137	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.74842	-0.88;-0.88;-0.88	4.89	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.359166	0.29424	N	0.012185	T	0.51822	0.1697	N	0.04387	-0.21	0.34199	D	0.672998	B;B	0.22983	0.028;0.078	B;B	0.24974	0.044;0.057	T	0.60429	-0.7265	10	0.36615	T	0.2	-12.5865	11.2528	0.49037	0.2669:0.7331:0.0:0.0	.	706;706	P52333-2;P52333	.;JAK3_HUMAN	S	706	ENSP00000391676:A706S;ENSP00000432511:A706S;ENSP00000436421:A706S	ENSP00000391676:A706S	A	-	1	0	JAK3	17806744	0.608000	0.26966	0.997000	0.53966	0.678000	0.39670	0.628000	0.24522	2.255000	0.74692	0.555000	0.69702	GCT		0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		27	37	1	0	1.77063e-15	0.027356	1.97494e-15	27	37					A	17945744	C	A	17945744	3	1	231	1	0	0	0	0	1	0	0	0	7939	797	28	4	1294	4	JAK3	19	17945744	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		17945744	41183239	17	28029											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	12	15	2	1			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	13	0	0	0	0.017118	0	34	13					T	42791757	C	T	42791757	3	4	231	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	24846013	42791757	16337226	18	28030											
CECR2	27443	broad.mit.edu	37	chr22	18028150	18028150	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatccgagaacggagtcaTtggggaagcatctccttgtg	12	9	3	1	rs201137830	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr22:18028150T>C	ENST00000400585.2	+	17	3119	c.2681T>C	c.(2680-2682)aTt>aCt	p.I894T	CECR2_ENST00000400573.5_Missense_Mutation_p.I1036T|CECR2_ENST00000262608.8_Missense_Mutation_p.I1037T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1078					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)		AACGGAGTCATTGGGGAAGCA	0.622													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		17539	0.0		0.0	False		,,,				2504	0.001					ENST00000262608.8																			0				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						c.(3109-3111)aTt>aCt		cat eye syndrome chromosome region, candidate 2		T	THR/ILE	0,4162		0,0,2081	36	42	40		3107	-0.5	0	22		40	7,8413		0,7,4203	no	missense	CECR2	NM_031413.3	89	0,7,6284	CC,CT,TT		0.0831,0.0,0.0556	benign	1036/1443	18028150	7,12575	2081	4210	6291	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028150T>C	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.2681T>C	22.37:g.18028150T>C	ENSP00000383428:p.Ile894Thr					CECR2_ENST00000400585.2_Missense_Mutation_p.I894T|CECR2_ENST00000400573.4_Missense_Mutation_p.I1036T	p.I1037T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3110	+		all_epithelial(15;0.139)	1078					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.3110T>C		.	.	.	.	.	.	.	.	.	.	T	0.013	-1.630269	0.00813	0.0	8.31E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25414	1.93;1.93;1.8	4.26	-0.46	0.12175	.	1.542630	0.04050	N	0.304612	T	0.16300	0.0392	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.21827	-1.0234	10	0.20046	T	0.44	2.99	5.8606	0.18745	0.0:0.2705:0.1425:0.587	.	1078;894;1036	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	894;1036;1037	ENSP00000383428:I894T;ENSP00000383417:I1036T;ENSP00000262608:I1037T	ENSP00000262608:I1037T	I	+	2	0	CECR2	16408150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.519000	0.22862	-0.256000	0.09473	-1.215000	0.01618	ATT		0.622	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		3	32	0	0	0	0.004672	0	3	32					C	18028150	T	C	18028150	3	2	231	1	0	0	0	0	1	0	0	0	3206	1493	52	3	3171	3	CECR2	22	18028150	Missense_Mutation	SNP	T	TCGA-HT-7468-01A-11D-2024-08		18028150	33276416	19	28031											
CCDC30	728621	broad.mit.edu	37	chr1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcagctgaaaatgagcttCgatatgaacgagggcagaac	11	8	1	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	ENST00000340612.4	+	5	787	c.787C>T	c.(787-789)Cga>Tga	p.R263*	RNU6-536P_ENST00000363384.1_RNA|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.R263*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263						extracellular vesicular exosome (GO:0070062)		p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408																																						ENST00000428554.2																			1	Substitution - Nonsense(1)	p.R263*(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(787-789)Cga>Tga		coiled-coil domain containing 30							94	90	91					1																	43032078		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43032078C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.787C>T	1.37:g.43032078C>T	ENSP00000340378:p.Arg263*					CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*	p.R263*			Q5VVM6	CCD30_HUMAN			13	1930	+			263					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.787C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986306	0.93044	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.83	4.92	0.64577	.	0.252263	0.39759	N	0.001269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1432	0.65334	0.1511:0.8489:0.0:0.0	.	.	.	.	X	263;52;263;263;52	.	ENSP00000340378:R263X	R	+	1	2	CCDC30	42804665	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	1.473000	0.35387	1.455000	0.47813	0.655000	0.94253	CGA		0.408	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		33	56	0	0	0	1	0	33	56					T	43032078	C	T	43032078	4	4	232	1	0	0	0	0	0	1	0	0	2805	876	31	1	805	1	CCDC30	1	43032078	Nonsense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		43032078	206218543	1	28032											
SYCP1	6847	broad.mit.edu	37	chr1	115401230	115401230	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaaaagataaaaaaAtggaaagtaagtacagaagc	11	3	0	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	ENST00000369522.3	+	6	594	c.354A>G	c.(352-354)aaA>aaG	p.K118K	SYCP1_ENST00000369518.1_Silent_p.K118K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	118					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)		AGATAAAAAAATGGAAAGTAA	0.328																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				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						c.(352-354)aaA>aaG		synaptonemal complex protein 1							77	82	81					1																	115401230		2203	4300	6503	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401230A>G	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.354A>G	1.37:g.115401230A>G						SYCP1_ENST00000369518.1_Silent_p.K118K	p.K118K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		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)	6	594	+	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)	118					O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.354A>G	CCDS879.1																																																																																				0.328	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		15	59	0	0	0	1	0	15	59					G	115401230	A	G	115401230	2	3	232	1	0	0	0	0	0	0	0	1	15428	98	4	3		3	SYCP1	1	115401230	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	72369152	115401230	133849391	2	28033											
MEX3A	92312	broad.mit.edu	37	chr1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-													cagcgcgggccttggcggaaGaggaggaggaggaggaggca							TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1237-1242)tct>tc		mex-3 RNA binding family member A				33,3511		2,29,1741						-6.7	0.3			7	102,7534		2,98,3718	no	coding	MEX3A	NM_001093725.1		4,127,5459	A1A1,A1R,RR		1.3358,0.9312,1.2075				135,11045				SO:0001651	inframe_deletion	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046687_156046689delGAG	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1239_1241delCTC	1.37:g.156046696_156046698delGAG	ENSP00000432845:p.Ser415del						p.SS413del	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1238_1240	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		413			Poly-Ser.			In_Frame_Del	DEL	ENST00000532414.2	37	c.1239_1241delCTC	CCDS53377.1																																																																																				0.744	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		2	4						2	4	---	---	---	---	-	156046689	GAG	-	156046687	7	5	232	1	0	1	0	1	0	0	0	0	9509	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-HT-7469-01A-11D-2253-08	40645457	156046687	93203934	3	28034											
H3F3A	3020	broad.mit.edu	37	chr1	226252155	226252155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgcgccctctactggaGgggtgaagaaacctcatcgt	13	10	2	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	ENST00000366813.1	+	1	478	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	H3F3A_ENST00000366814.3_Missense_Mutation_p.G35R|H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|RP11-396C23.4_ENST00000609423.1_RNA			P84243	H33_HUMAN	H3 histone, family 3A	35					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)	p.G35R(11)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTCTACTGGAGGGGTGAAGAA	0.458			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3				Dom	yes		1	1q42.12	3020	Mis	"H3 histone, family 3A"			O			glioma		11	Substitution - Missense(11)	p.G35R(11)	central_nervous_system(11)	central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(103-105)Ggg>Agg		H3 histone, family 3A							30	32	32					1																	226252155		2199	4299	6498	SO:0001583	missense	3020							g.chr1:226252155G>A	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.103G>A	1.37:g.226252155G>A	ENSP00000355778:p.Gly35Arg		OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366813.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R	p.G35R						GBM - Glioblastoma multiforme(131;0.203)	2	224	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.103G>A	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274656	0.59649	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	.	.	.	0.58432	D	0.999999	P;P	0.52577	0.954;0.954	P;P	0.47470	0.532;0.548	T	0.63523	-0.6618	9	0.87932	D	0	.	16.7598	0.85509	0.0:0.0:1.0:0.0	.	35;35	B4DEB1;P84243	.;H33_HUMAN	R	35	ENSP00000355781:G35R;ENSP00000355780:G35R;ENSP00000355779:G35R;ENSP00000355778:G35R	ENSP00000355778:G35R	G	+	1	0	H3F3A	224318778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.606000	0.98325	2.106000	0.64143	0.655000	0.94253	GGG		0.458	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		14	21	0	0	0	1	0	14	21					A	226252155	G	A	226252155	3	1	232	1	0	0	0	0	1	0	0	0	6933	1000	35	2	105	2	H3F3A	1	226252155	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	70205468	226252155	22998466	4	28035											
UCN	7349	broad.mit.edu	37	chr2	27530455	27530455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgctggctctgcgtccgCgccagctccagcagggtccg	13	18	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	ENST00000296099.2	-	2	607	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	103					activation of protein kinase A activity (GO:0034199)|aerobic respiration (GO:0009060)|associative learning (GO:0008306)|drinking behavior (GO:0042756)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell size (GO:0045792)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of gene expression (GO:0010629)|negative regulation of hormone secretion (GO:0046888)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron death (GO:1901215)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|pancreatic juice secretion (GO:0030157)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell growth (GO:0030307)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of translation (GO:0045727)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasodilation (GO:0045909)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|response to pain (GO:0048265)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|perikaryon (GO:0043204)|varicosity (GO:0043196)	histone deacetylase inhibitor activity (GO:0046811)|neuropeptide hormone activity (GO:0005184)			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.662																																						ENST00000296099.2																			0				lung(1)|skin(1)	2						c.(307-309)gcG>gcA		urocortin							23	26	25					2																	27530455		2199	4298	6497	SO:0001819	synonymous_variant	7349					extracellular region	neuropeptide hormone activity	g.chr2:27530455C>T	AF038633	CCDS1747.1	2p23-p21	2013-02-28			ENSG00000163794	ENSG00000163794		"Endogenous ligands"	12516	protein-coding gene	gene with protein product	"prepro-urocortin"	600945				9628819, 861256	Standard	NM_003353		Approved	UROC, UI	uc002rjp.1	P55089	OTTHUMG00000097068	ENST00000296099.2:c.309G>A	2.37:g.27530455C>T							p.A103A	NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN			2	607	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		103					Q6FG64	Silent	SNP	ENST00000296099.2	37	c.309G>A	CCDS1747.1																																																																																				0.662	UCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214184.2	NM_003353		11	39	0	0	0	1	0	11	39					T	27530455	C	T	27530455	2	4	232	1	0	0	0	0	0	0	0	1	16924	755	27	1		1	UCN	2	27530455	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		27530455	215668918	5	28036											
IL1RL2	8808	broad.mit.edu	37	chr2	102818122	102818122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgcgtgtcaagccatacTgacacactcagggaagcagt	10	12	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	ENST00000264257.2	+	5	722	c.596T>G	c.(595-597)cTg>cGg	p.L199R	IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	199	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCATACTGACACACTCA	0.478																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(595-597)cTg>cGg		interleukin 1 receptor-like 2							136	111	120					2																	102818122		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102818122T>G	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.596T>G	2.37:g.102818122T>G	ENSP00000264257:p.Leu199Arg					IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R	p.L199R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			5	722	+			199			Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.596T>G	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049372	0.55218	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.77229	-1.08;3.78;-1.08	4.56	4.56	0.56223	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.161402	0.41823	D	0.000802	D	0.86539	0.5957	M	0.80982	2.52	0.09310	N	0.999999	D;D	0.69078	0.994;0.997	P;D	0.72982	0.837;0.979	T	0.78708	-0.2099	10	0.62326	D	0.03	.	10.4726	0.44646	0.0:0.0:0.0:1.0	.	82;199	A4FU63;Q9HB29	.;ILRL2_HUMAN	R	199;82;199	ENSP00000264257:L199R;ENSP00000413348:L82R;ENSP00000442184:L199R	ENSP00000264257:L199R	L	+	2	0	IL1RL2	102184554	0.886000	0.30341	0.142000	0.22268	0.015000	0.08874	3.284000	0.51708	2.046000	0.60703	0.379000	0.24179	CTG		0.478	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		25	26	0	0	0	1	0	25	26					G	102818122	T	G	102818122	3	3	232	1	0	0	0	0	1	0	0	0	7664	1580	55	5	610	5	IL1RL2	2	102818122	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	75287667	102818122	140381251	6	28037											
EDAR	10913	broad.mit.edu	37	chr2	109547447	109547447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggagccagggcgtctgCgtgcagtcccccacatgggc	16	14	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	ENST00000258443.2	-	2	454	c.24G>A	c.(22-24)acG>acA	p.T8T	EDAR_ENST00000409271.1_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(22-24)acG>acA		ectodysplasin A receptor							84	82	82					2																	109547447		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109547447C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.24G>A	2.37:g.109547447C>T						EDAR_ENST00000258443.2_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T	p.T8T			Q9UNE0	EDAR_HUMAN			3	467	-			8					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.24G>A	CCDS2081.1																																																																																				0.627	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			30	87	0	0	0	1	0	30	87					T	109547447	C	T	109547447	2	4	232	1	0	0	0	0	0	0	0	1	4905	755	27	1		1	EDAR	2	109547447	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	6729325	109547447	133651926	7	28038											
TMEFF2	23671	broad.mit.edu	37	chr2	192922465	192922465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaatatcacaggtggatGtctccttttgactagtttct	9	8	3	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	ENST00000272771.5	-	5	1660	c.476C>A	c.(475-477)aCa>aAa	p.T159K	TMEFF2_ENST00000392314.1_Missense_Mutation_p.T159K	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	159						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(475-477)aCa>aAa		transmembrane protein with EGF-like and two follistatin-like domains 2							124	111	116					2																	192922465		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192922465G>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.476C>A	2.37:g.192922465G>T	ENSP00000272771:p.Thr159Lys					TMEFF2_ENST00000272771.5_Missense_Mutation_p.T159K	p.T159K			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		5	867	-			159					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.476C>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183507	0.78677	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.12255	2.7;2.7	4.93	4.93	0.64822	.	0.057117	0.64402	D	0.000001	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	D	0.55605	0.972	P	0.50136	0.632	T	0.09907	-1.0653	10	0.10636	T	0.68	-12.2039	18.7107	0.91655	0.0:0.0:1.0:0.0	.	159	Q9UIK5	TEFF2_HUMAN	K	159	ENSP00000376128:T159K;ENSP00000272771:T159K	ENSP00000272771:T159K	T	-	2	0	TMEFF2	192630710	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.570000	0.90748	2.713000	0.92767	0.655000	0.94253	ACA		0.388	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		32	91	1	0	7.53189e-24	1	7.76727e-24	32	91					T	192922465	G	T	192922465	3	4	232	1	0	0	0	0	1	0	0	0	16011	1377	48	4	672	4	TMEFF2	2	192922465	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	83375018	192922465	50276908	8	28039											
HYAL1	3373	broad.mit.edu	37	chr3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaccacatgctcttccGctcacaccacggtgcctgcc	6	19	3	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL3_ENST00000336307.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|NAT6_ENST00000354862.4_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|NAT6_ENST00000417393.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGCTCTTCCGCTCACACCAC	0.552																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(1291-1293)Cgg>Tgg		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						93	95	95					3																	50337931		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50337931G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1291C>T	3.37:g.50337931G>A	ENSP00000266031:p.Arg431Trp					HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W	p.R431W			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1906	-			431					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.1291C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	HYAL1	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG		0.552	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			3	106	0	0	0	1	0	3	106					A	50337931	G	A	50337931	3	1	232	1	0	0	0	0	1	0	0	0	7463	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		50337931	147684499	9	28040											
OR5H15	403274	broad.mit.edu	37	chr3	97887873	97887873	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attgcaattggcgtaaccacAgaatgttttctcttggcaac	8	9	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	ENST00000356526.2	+	1	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110						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(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCGTAACCACAGAATGTTTTC	0.398																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(328-330)acA>acT		olfactory receptor, family 5, subfamily H, member 15							128	125	126					3																	97887873		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887873A>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.330A>T	3.37:g.97887873A>T							p.T110T	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	330	+			110						Silent	SNP	ENST00000356526.2	37	c.330A>T	CCDS33799.1																																																																																				0.398	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	87	0	0	0	1	0	4	87					T	97887873	A	T	97887873	2	4	232	1	0	0	0	0	0	0	0	1	11161	175	7	5		5	OR5H15	3	97887873	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	47549942	97887873	100134557	10	28041											
P2RY12	64805	broad.mit.edu	37	chr3	151055882	151055882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcgggcaaaatggaaaGgaacaaaacaaataaagaat	9	4	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	ENST00000302632.3	-	3	1051	c.752C>T	c.(751-753)cCt>cTt	p.P251L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	251					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(751-753)cCt>cTt		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						72	74	73					3																	151055882		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151055882G>A	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.752C>T	3.37:g.151055882G>A	ENSP00000307259:p.Pro251Leu					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	p.P251L	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1051	-			251					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.752C>T	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812003	0.90707	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.79845	-1.31	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92289	0.7554	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-14.8285	19.7236	0.96153	0.0:0.0:1.0:0.0	.	251	Q9H244	P2Y12_HUMAN	L	251;154	ENSP00000307259:P251L	ENSP00000307259:P251L	P	-	2	0	P2RY12	152538572	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.388000	0.97237	2.730000	0.93505	0.655000	0.94253	CCT		0.428	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			3	34	0	0	0	1	0	3	34					A	151055882	G	A	151055882	3	1	232	1	0	0	0	0	1	0	0	0	11349	1000	35	2	280	2	P2RY12	3	151055882	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	53168009	151055882	46966548	11	28042											
TLR1	7096	broad.mit.edu	37	chr4	38799739	38799739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggatttgtttgaagtttCgccagaatacttaggaagta	10	4	0	2	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	ENST00000502213.2	-	3	943	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000308979.2_Silent_p.A238A			Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(712-714)gcG>gcA		toll-like receptor 1		C		1,4405	2.1+/-5.4	0,1,2202	59	65	63		714	0.9	0	4	dbSNP_134	63	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TLR1	NM_003263.3		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		238/787	38799739	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799739C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.714G>A	4.37:g.38799739C>T						TLR1_ENST00000502213.2_Silent_p.A238A	p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	987	-			238					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.714G>A	CCDS33973.1																																																																																				0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			8	32	0	0	0	1	0	8	32					T	38799739	C	T	38799739	2	4	232	1	0	0	0	0	0	0	0	1	15946	871	31	1		1	TLR1	4	38799739	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		38799739	152354537	12	28043											
SHISA3	152573	broad.mit.edu	37	chr4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													gcttctcactccgcagctatCagacagagaccctgcccatg							TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	ENST00000319234.4	+	2	642_645	c.424_427delCAGA	c.(424-429)cagacafs	p.QT142fs		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	142					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCAGCTATCAGACAGAGACCCT	0.608																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(424-429)cafs		shisa family member 3				1,4259		0,1,2129						0	1			180	1,8247		0,1,4123	no	frameshift	SHISA3	NM_001080505.1		0,2,6252	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12506				SO:0001589	frameshift_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403175_42403178delCAGA	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.424_427delCAGA	4.37:g.42403179_42403182delCAGA	ENSP00000326445:p.Gln142fs						p.QT142fs	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	642_645	+			142					A0PJX3|Q96EQ5	Frame_Shift_Del	DEL	ENST00000319234.4	37	c.424_427delCAGA	CCDS33979.1																																																																																				0.608	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		10	519						10	519	---	---	---	---	-	42403178	CAGA	-	42403175	7	5	232	1	0	1	0	1	0	0	0	0	14281	827	29	0	430	0	SHISA3	4	42403175	Frame_Shift_Del	DEL	CAGA	TCGA-HT-7469-01A-11D-2253-08	3603436	42403175	148751101	13	28044											
PDGFRA	5156	broad.mit.edu	37	chr4	55131206	55131206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccttcaatggacttaccCtggagaagtggtaggtaccc	11	10	1	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	ENST00000257290.5	+	5	1080	c.749C>T	c.(748-750)cCt>cTt	p.P250L	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	250	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.488			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(748-750)cCt>cTt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						125	117	120					4																	55131206		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131206C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.749C>T	4.37:g.55131206C>T	ENSP00000257290:p.Pro250Leu	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	p.P250L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1080	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		250			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.749C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975561	0.74360	.	.	ENSG00000134853	ENST00000257290	T	0.66995	-0.24	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31936	U	0.006823	D	0.83778	0.5328	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85123	0.0970	10	0.54805	T	0.06	.	19.0765	0.93165	0.0:1.0:0.0:0.0	.	250;250	P16234-3;P16234	.;PGFRA_HUMAN	L	250	ENSP00000257290:P250L	ENSP00000257290:P250L	P	+	2	0	PDGFRA	54825963	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.316000	0.72857	2.518000	0.84900	0.561000	0.74099	CCT		0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		33	80	0	0	0	1	0	33	80					T	55131206	C	T	55131206	3	4	232	1	0	0	0	0	1	0	0	0	11661	681	24	2	763	2	PDGFRA	4	55131206	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	12728031	55131206	136023070	14	28045											
PDGFRA	5156	broad.mit.edu	37	chr4	55133717	55133720	+	Splice_Site	DEL	AGAG	AGAG	-													atggaaactcttccctgtacAgagaaaggtttcattgaaat							TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	ENST00000257290.5	+	7	1262_1264	c.931_933delAGAG	c.(931-933)agadel	p.R311fs	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	311					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.e7-1		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001630	splice_region_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133717_55133720delAGAG	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.932-1AGAG>-	4.37:g.55133717_55133720delAGAG		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.311_splice	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1262_1264	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		311					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Splice_Site	DEL	ENST00000257290.5	37	c.931_splice	CCDS3495.1																																																																																				0.441	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	Frame_Shift_Del	22	92						22	92	---	---	---	---	-	55133720	AGAG	-	55133717	8	5	232	1	0	1	0	1	0	0	1	0	11661	202	7	0	952	0	PDGFRA	4	55133717	Splice_Site	DEL	AGAG	TCGA-HT-7469-01A-11D-2253-08	2511	55133717	136020559	15	28046											
FSTL5	56884	broad.mit.edu	37	chr4	162697149	162697149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaggattttcattttcttGcataatatatttttgatttt	4	3	2	1	rs200762823		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	ENST00000306100.5	-	5	923	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	163						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)		TCATTTTCTTGCATAATATAT	0.308																																						ENST00000306100.5																			0				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						c.(487-489)Caa>Taa		follistatin-like 5							71	70	70					4																	162697149		2201	4295	6496	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162697149G>A	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.487C>T	4.37:g.162697149G>A	ENSP00000305334:p.Gln163*					FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*	p.Q163*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	923	-	all_hematologic(180;0.24)		163					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.487C>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937057	0.98571	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.3	5.3	0.74995	.	0.306761	0.36932	N	0.002322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.2955	0.60294	0.0:0.0:0.8418:0.1582	.	.	.	.	X	163;162;162;162	.	ENSP00000305334:Q163X	Q	-	1	0	FSTL5	162916599	0.997000	0.39634	0.975000	0.42487	0.982000	0.71751	1.302000	0.33459	2.625000	0.88918	0.650000	0.86243	CAA		0.308	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		12	19	0	0	0	1	0	12	19					A	162697149	G	A	162697149	4	1	232	1	0	0	0	0	0	1	0	0	6080	1328	46	2	2104	2	FSTL5	4	162697149	Nonsense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	107563432	162697149	28457127	16	28047											
MCTP1	79772	broad.mit.edu	37	chr5	94248540	94248540	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacttctgatgcccaagccGgaacttcacgtagggatcgc	11	12	2	1	rs558503942		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	ENST00000515393.1	-	9	1491	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000312216.8_Silent_p.R277R|MCTP1_ENST00000505208.1_Silent_p.R277R|MCTP1_ENST00000505078.1_Silent_p.R14R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	498	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(1492-1494)Cgg>Agg		multiple C2 domains, transmembrane 1							140	126	131					5																	94248540		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248540G>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1492C>A	5.37:g.94248540G>T						MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000505208.1_Silent_p.R277R|MCTP1_ENST00000505078.1_Silent_p.R14R|MCTP1_ENST00000312216.8_Silent_p.R277R	p.R498R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1491	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	498			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1492C>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335565	0.24253	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.76630	0.4014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74484	-0.3650	4	.	.	.	-13.6282	19.8868	0.96915	0.0:0.0:1.0:0.0	.	.	.	.	Q	260	.	.	P	-	2	0	MCTP1	94274296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	2.689000	0.91719	0.650000	0.86243	CCG		0.473	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		22	72	1	0	1.64293e-13	1	1.66821e-13	22	72					T	94248540	G	T	94248540	2	4	232	1	0	0	0	0	0	0	0	1	9400	1115	39	4		4	MCTP1	5	94248540	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		94248540	86666720	17	28048											
T	6862	broad.mit.edu	37	chr6	166579237	166579237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctatgaactgggtctcaGggaagcagtggctggtgatc	15	9	1	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	ENST00000296946.2	-	4	1031	c.563C>T	c.(562-564)cCt>cTt	p.P188L	T_ENST00000366871.3_Missense_Mutation_p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	188					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)		CTGGGTCTCAGGGAAGCAGTG	0.557									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				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						c.(562-564)cCt>cTt		T, brachyury homolog (mouse)							297	261	273					6																	166579237		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166579237G>A	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.563C>T	6.37:g.166579237G>A	ENSP00000296946:p.Pro188Leu					T_ENST00000366871.3_Missense_Mutation_p.P188L	p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		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)	4	1031	-		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)	188					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.563C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873980	0.91664	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.81996	-1.56;-1.56;-1.56	4.94	4.94	0.65067	p53-like transcription factor, DNA-binding (1);	0.057610	0.64402	D	0.000001	D	0.93426	0.7903	H	0.97158	3.95	0.80722	D	1	P;D;D	0.76494	0.953;0.999;0.987	P;D;P	0.69307	0.639;0.963;0.849	D	0.95602	0.8664	10	0.87932	D	0	.	17.1654	0.86814	0.0:0.0:1.0:0.0	.	188;188;188	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	L	188	ENSP00000355841:P188L;ENSP00000296946:P188L;ENSP00000355836:P188L	ENSP00000296946:P188L	P	-	2	0	T	166499227	1.000000	0.71417	0.923000	0.36655	0.991000	0.79684	9.174000	0.94824	2.280000	0.76307	0.561000	0.74099	CCT		0.557	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		66	296	0	0	0	1	0	66	296					A	166579237	G	A	166579237	3	1	232	1	0	0	0	0	1	0	0	0	15485	1000	35	2	768	2	T	6	166579237	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		166579237	4535830	18	28049											
POR	5447	broad.mit.edu	37	chr7	75601767	75601767	+	De_novo_Start_InFrame	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagagcagctttgtggaaaaGatgaagaaaacggtgagttt	14	3	0	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	ENST00000419840.1	+	0	307				POR_ENST00000475509.1_3'UTR|POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000394893.1_Silent_p.K75K			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TTGTGGAAAAGATGAAGAAAA	0.537											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000419840.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9								P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						68	69	69					7																	75601767		1983	4160	6143			5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75601767G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75601767G>A			OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	POR_ENST00000394893.1_Silent_p.K75K|POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000475509.1_3'UTR				P16435	NCPR_HUMAN			0	307	+								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Translation_Start_Site	SNP	ENST00000419840.1	37			.	.	.	.	.	.	.	.	.	.	G	13.66	2.303474	0.40795	.	.	ENSG00000127948	ENST00000447222;ENST00000439297	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	T	0.74891	0.3776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79822	-0.1641	5	0.87932	D	0	-22.7706	15.3355	0.74250	0.0:0.0:1.0:0.0	.	.	.	.	N	48;22	.	ENSP00000403494:D22N	D	+	1	0	POR	75439703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.619000	0.67729	2.154000	0.67381	0.591000	0.81541	GAT		0.537	POR-201	KNOWN	basic	protein_coding	protein_coding		NM_000941		7	7	0	0	0	1	0	7	7					A	75601767	G	A	75601767	1	1	232	1	0	1	0	0	0	0	0	0	12257	933	33	2		2	POR	7	75601767	De_novo_Start_InFrame	SNP	G	TCGA-HT-7469-01A-11D-2253-08		75601767	83536896	19	28050											
SLC26A4	5172	broad.mit.edu	37	chr7	107312689	107312692	+	Splice_Site	DEL	AGTT	AGTT	-													ggaacatcaagacatatctcAgttggtaattataagtatat					rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	ENST00000265715.3	+	4	635_638	c.411_414delAGTT	c.(409-414)tcagtt>tc	p.SV137fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	137			S -> P (in PDS). {ECO:0000269|PubMed:15355436}.		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						GACATATCTCAGTTGGTAATTATA	0.338									Pendred syndrome																													ENST00000265715.3																			0				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	GRCh37	CM087094|CM981497	SLC26A4	M	rs111033199	c.e4+1		solute carrier family 26 (anion exchanger), member 4																																				SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107312689_107312692delAGTT	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.415+1AGTT>-	7.37:g.107312689_107312692delAGTT							p.SV137_splice	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			4	635_638	+			137		S -> P (in PDS).			B7Z266|O43170	Splice_Site	DEL	ENST00000265715.3	37	c.415_splice	CCDS5746.1																																																																																				0.338	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Frame_Shift_Del	14	57						14	57	---	---	---	---	-	107312692	AGTT	-	107312689	8	5	232	1	0	1	0	1	0	0	1	0	14519	175	7	0	421	0	SLC26A4	7	107312689	Splice_Site	DEL	AGTT	TCGA-HT-7469-01A-11D-2253-08	31710922	107312689	51825974	20	28051											
HR	55806	broad.mit.edu	37	chr8	21982885	21982885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcggcacagtcggtcCcccaaaccactgagcaggtg	13	14	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	ENST00000381418.4	-	5	3169	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	HR_ENST00000312841.8_Silent_p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	563					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1687-1689)ggG>ggA		hair growth associated							24	26	25					8																	21982885		2200	4296	6496	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982885C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1689G>A	8.37:g.21982885C>T						HR_ENST00000312841.8_Silent_p.G563G	p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3169	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	563					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1689G>A	CCDS6022.1																																																																																				0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			4	6	0	0	0	1	0	4	6					T	21982885	C	T	21982885	2	4	232	1	0	0	0	0	0	0	0	1	7347	610	22	2		2	HR	8	21982885	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		21982885	124381137	21	28052											
SLC20A2	6575	broad.mit.edu	37	chr8	42287600	42287600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggacggcgtgatgggaGtgaggtccttccccatggtc	15	11	0	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	ENST00000342228.3	-	9	2060	c.1691C>T	c.(1690-1692)aCt>aTt	p.T564I	SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	564					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)			CGTGATGGGAGTGAGGTCCTT	0.612																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(1690-1692)aCt>aTt		solute carrier family 20 (phosphate transporter), member 2							97	76	83					8																	42287600		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42287600G>A		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.1691C>T	8.37:g.42287600G>A	ENSP00000340465:p.Thr564Ile					SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I	p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	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)		9	2060	-	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)	564						Missense_Mutation	SNP	ENST00000342228.3	37	c.1691C>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584734	0.86748	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91996	-2.95;-2.95;-2.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.69248	2.105	0.80722	D	1	D	0.55800	0.973	P	0.45639	0.488	D	0.92050	0.5647	10	0.45353	T	0.12	-31.2984	17.3513	0.87324	0.0:0.0:1.0:0.0	.	564	Q08357	S20A2_HUMAN	I	564	ENSP00000340465:T564I;ENSP00000429754:T564I;ENSP00000429712:T564I	ENSP00000340465:T564I	T	-	2	0	SLC20A2	42406757	1.000000	0.71417	0.967000	0.41034	0.837000	0.47467	9.862000	0.99564	2.704000	0.92352	0.555000	0.69702	ACT		0.612	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			3	64	0	0	0	1	0	3	64					A	42287600	G	A	42287600	3	1	232	1	0	0	0	0	1	0	0	0	14439	1029	36	2	279	2	SLC20A2	8	42287600	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	20304715	42287600	104076422	22	28053											
PPP1R16A	84988	broad.mit.edu	37	chr8	145727173	145727174	+	Frame_Shift_Ins	INS	-	-	C													cctgcctggtgacacggtgaINSccccccagcctgactgtggc					rs559987709		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	ENST00000292539.4	+	11	2391_2392	c.1474_1475insC	c.(1474-1476)accfs	p.T492fs	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.T492fs|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	492						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	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)			TGACACGGTGACCCCCCAGCCT	0.713																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1474-1476)cccfs		protein phosphatase 1, regulatory subunit 16A																																				SO:0001589	frameshift_variant	84988					plasma membrane	protein binding	g.chr8:145727173_145727174insC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1480dupC	8.37:g.145727179_145727179dupC	ENSP00000292539:p.Thr492fs					PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.P492fs	p.P492fs			Q96I34	PP16A_HUMAN	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)		11	2391_2392	+	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)		492					D3DWM5	Frame_Shift_Ins	INS	ENST00000292539.4	37	c.1474_1475insC	CCDS6429.1																																																																																				0.713	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		2	4						2	4	---	---	---	---	C	145727174	-	C	145727173	7	5	232	1	0	1	1	0	0	0	0	0	12365	275	10	0	1512	0	PPP1R16A	8	145727173	Frame_Shift_Ins	INS	-	TCGA-HT-7469-01A-11D-2253-08	103439573	145727173	636849	23	28054											
RLN1	6013	broad.mit.edu	37	chr9	5339680	5339680	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccttccatttggccgcgaCtgctctggaaaattggttca	10	11	2	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	ENST00000223862.1	-	1	193	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L	RLN1_ENST00000223858.4_Missense_Mutation_p.V23L|RLN1_ENST00000487557.2_5'Flank	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	23					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517																																						ENST00000223858.4																			0				large_intestine(1)|lung(4)	5						c.(67-69)Gtc>Ctc		relaxin 1							64	72	69					9																	5339680		2196	4299	6495	SO:0001583	missense	6013				female pregnancy|signal transduction	extracellular region	hormone activity	g.chr9:5339680C>G		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.67G>C	9.37:g.5339680C>G	ENSP00000223862:p.Val23Leu					RLN1_ENST00000223862.1_Missense_Mutation_p.V23L	p.V23L			P04808	REL1_HUMAN		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)	1	193	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	23					Q99936|Q9UQJ1	Missense_Mutation	SNP	ENST00000223862.1	37	c.67G>C	CCDS6462.1	.	.	.	.	.	.	.	.	.	.	C	9.374	1.071162	0.20147	.	.	ENSG00000107018	ENST00000223862;ENST00000223858	T;T	0.20738	2.34;2.05	2.85	-4.84	0.03151	Insulin-like (1);	4.817690	0.00508	N	0.000169	T	0.13586	0.0329	L	0.28115	0.83	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.17930	-1.0353	10	0.37606	T	0.19	.	4.7932	0.13259	0.0:0.2772:0.342:0.3808	.	23	P04808	REL1_HUMAN	L	23	ENSP00000223862:V23L;ENSP00000223858:V23L	ENSP00000223858:V23L	V	-	1	0	RLN1	5329680	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.102000	0.10956	-1.147000	0.02851	0.537000	0.68136	GTC		0.517	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1			6	106	0	0	0	1	0	6	106					G	5339680	C	G	5339680	3	3	232	1	0	0	0	0	1	0	0	0	13391	565	20	4	498	4	RLN1	9	5339680	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		5339680	135873751	24	28055											
UNC13B	10497	broad.mit.edu	37	chr9	35381621	35381621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctgaagctcgaggagaCgatgcctggaaggtgtactt	13	9	0	2	rs199752726		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:35381621C>T	ENST00000378495.3	+	19	2535	c.2313C>T	c.(2311-2313)gaC>gaT	p.D771D	UNC13B_ENST00000396787.1_Silent_p.D783D|UNC13B_ENST00000378496.4_Silent_p.D771D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	771					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGAGGAGACGATGCCTGGA	0.498																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2311-2313)gaC>gaT		unc-13 homolog B (C. elegans)							162	145	151					9																	35381621		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381621C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2313C>T	9.37:g.35381621C>T						UNC13B_ENST00000396787.1_Silent_p.D783D|UNC13B_ENST00000378496.4_Silent_p.D771D	p.D771D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		19	2535	+	all_epithelial(49;0.212)		771					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2313C>T	CCDS6579.1																																																																																				0.498	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		4	112	0	0	0	1	0	4	112					T	35381621	C	T	35381621	2	4	232	1	0	0	0	0	0	0	0	1	16982	535	19	1		1	UNC13B	9	35381621	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	30041941	35381621	105831810	25	28056											
PRKCQ	5588	broad.mit.edu	37	chr10	6527130	6527130	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacctctttttcccggtgtCggtaaacatggcggccttgc	10	13	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	ENST00000263125.5	-	10	1101	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PRKCQ_ENST00000539722.1_Silent_p.P209P|PRKCQ_ENST00000397176.2_Silent_p.P334P	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	334					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTCCCGGTGTCGGTAAACATG	0.443																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1000-1002)ccG>ccA		protein kinase C, theta							184	178	180					10																	6527130		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6527130C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1002G>A	10.37:g.6527130C>T						PRKCQ_ENST00000539722.1_Silent_p.P209P|PRKCQ_ENST00000397176.2_Silent_p.P334P	p.P334P	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			10	1101	-			334					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.1002G>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	3.374	-0.127896	0.06753	.	.	ENSG00000065675	ENST00000397178	.	.	.	5.22	-4.86	0.03132	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.22620	N	0.998923	.	.	.	.	.	.	T	0.32561	-0.9902	4	.	.	.	.	6.2022	0.20583	0.0:0.2699:0.3589:0.3712	.	.	.	.	Q	107	.	.	R	-	2	0	PRKCQ	6567136	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.836000	0.04382	-0.875000	0.04022	-1.304000	0.01323	CGA		0.443	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		6	193	0	0	0	1	0	6	193					T	6527130	C	T	6527130	2	4	232	1	0	0	0	0	0	0	0	1	12515	871	31	1		1	PRKCQ	10	6527130	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		6527130	129007617	26	28057											
FRMD4A	55691	broad.mit.edu	37	chr10	13825006	13825006	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgctttctatatagaaCctgaaagagaaaaatggtgc	9	5	1	3	rs559657039		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	ENST00000357447.2	-	6	668	c.300G>A	c.(298-300)agG>agA	p.R100R	FRMD4A_ENST00000358621.4_Splice_Site_p.R85R|FRMD4A_ENST00000378503.1_Splice_Site_p.R100R|FRMD4A_ENST00000342409.2_Splice_Site_p.R116R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	100	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						CTATATAGAACCTGAAAGAGA	0.428																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.e6-1		FERM domain containing 4A							106	106	106					10																	13825006		2203	4300	6503	SO:0001630	splice_region_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13825006C>T	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.300-1G>A	10.37:g.13825006C>T						FRMD4A_ENST00000342409.2_Splice_Site_p.R116_splice|FRMD4A_ENST00000378503.1_Splice_Site_p.R100_splice|FRMD4A_ENST00000358621.4_Splice_Site_p.R85_splice	p.R100_splice	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			6	668	-			100			FERM.		A7E2Y3|Q5T377	Splice_Site	SNP	ENST00000357447.2	37	c.299_splice	CCDS7101.1																																																																																				0.428	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	Silent	37	55	0	0	0	1	0	37	55					T	13825006	C	T	13825006	5	4	232	1	0	0	0	0	0	0	1	0	6051	521	18	2	2895	2	FRMD4A	10	13825006	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7297876	13825006	121709741	27	28058											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060060	116060060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagattctctgctgttccGtctggattttgacggtggtg	14	7	2	2	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	ENST00000304129.4	-	15	1879	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.T617M|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	617					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18474	0.0		0.0	False		,,,				2504	0.0					ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1849-1851)aCg>aTg		actin filament associated protein 1-like 2		G	MET/THR,MET/THR	5,4401	9.9+/-24.2	0,5,2198	129	139	136		1850,1850	4.3	0.2	10	dbSNP_134	136	0,8600		0,0,4300	yes	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	81,81	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging,probably-damaging	617/819,617/815	116060060	5,13001	2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060060G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1850C>T	10.37:g.116060060G>A	ENSP00000303042:p.Thr617Met					AFAP1L2_ENST00000304129.4_Missense_Mutation_p.T617M|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M|AFAP1L2_ENST00000491814.1_5'UTR	p.T617M	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	15	2150	-		Colorectal(252;0.175)|Breast(234;0.231)	617					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1850C>T	CCDS31286.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.65	3.443247	0.63067	0.001135	0.0	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.15487	2.43;2.43;2.42	5.24	4.31	0.51392	.	0.841321	0.11065	N	0.603559	T	0.35393	0.0930	L	0.54323	1.7	0.24682	N	0.993352	D;D;D;D;D;D;D	0.76494	0.995;0.997;0.999;0.999;0.995;0.993;0.989	P;P;P;P;P;P;P	0.62014	0.861;0.742;0.739;0.897;0.817;0.795;0.628	T	0.16217	-1.0410	10	0.46703	T	0.11	-4.5683	14.0662	0.64831	0.0:0.1506:0.8494:0.0	.	670;183;671;139;645;617;617	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	M	617;617;644;670	ENSP00000358276:T617M;ENSP00000303042:T617M;ENSP00000444511:T670M	ENSP00000303042:T617M	T	-	2	0	AFAP1L2	116050050	0.374000	0.25081	0.246000	0.24233	0.768000	0.43524	1.559000	0.36320	1.164000	0.42652	0.561000	0.74099	ACG		0.607	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		15	148	0	0	0	1	0	15	148					A	116060060	G	A	116060060	3	1	232	1	0	0	0	0	1	0	0	0	355	1145	40	1	626	1	AFAP1L2	10	116060060	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	102235054	116060060	19474687	28	28059											
MLL	4297	broad.mit.edu	37	chr11	118374340	118374340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagtggcccaaccaagccCcaataatacctcatgccagg	7	16	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:118374340C>T	ENST00000389506.5	+	27	7724	c.7724C>T	c.(7723-7725)cCc>cTc	p.P2575L	KMT2A_ENST00000534358.1_Missense_Mutation_p.P2578L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P2537L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2575					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)										CAACCAAGCCCCAATAATACC	0.473																																						ENST00000534358.1																			0											c.(7732-7734)cCc>cTc		lysine (K)-specific methyltransferase 2A							62	63	62					11																	118374340		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118374340C>T	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.7724C>T	11.37:g.118374340C>T	ENSP00000374157:p.Pro2575Leu					KMT2A_ENST00000354520.4_Missense_Mutation_p.P2537L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2575L	p.P2578L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7756	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7733C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219966	0.39201	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82526	-1.62;-1.62;-1.58	5.95	5.95	0.96441	.	0.113719	0.64402	D	0.000010	T	0.76442	0.3988	N	0.24115	0.695	0.58432	D	0.999992	B;B	0.25719	0.132;0.132	B;B	0.17098	0.017;0.017	T	0.72411	-0.4302	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	2578;2575	E9PQG7;Q03164	.;MLL1_HUMAN	L	2578;2575;2537;1485	ENSP00000436786:P2578L;ENSP00000374157:P2575L;ENSP00000346516:P2537L	ENSP00000346516:P2537L	P	+	2	0	MLL	117879550	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.180000	0.50895	2.824000	0.97209	0.655000	0.94253	CCC		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		11	56	0	0	0	1	0	11	56					T	118374340	C	T	118374340	3	4	232	1	0	0	0	0	1	0	0	0	9620	623	22	2	7830	2	MLL	11	118374340	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		118374340	16632176	29	28060											
OR8B4	283162	broad.mit.edu	37	chr11	124294595	124294595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggaaaaagtacatgGgggtgtgaaggctaggattt	16	2	0	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	ENST00000356130.3	-	1	194	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58						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(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(172-174)cCc>cTc		olfactory receptor, family 8, subfamily B, member 4							82	78	80					11																	124294595		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294595G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.173C>T	11.37:g.124294595G>A	ENSP00000348449:p.Pro58Leu						p.P58L	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	194	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	58					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.173C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.584703	0.86748	.	.	ENSG00000198657	ENST00000356130	T	0.02032	4.49	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.20333	0.0489	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14727	-1.0462	10	0.87932	D	0	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	58	Q96RC9	OR8B4_HUMAN	L	58	ENSP00000348449:P58L	ENSP00000348449:P58L	P	-	2	0	OR8B4	123799805	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.311000	0.78958	2.564000	0.86499	0.655000	0.94253	CCC		0.413	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		27	50	0	0	0	1	0	27	50					A	124294595	G	A	124294595	3	1	232	1	0	0	0	0	1	0	0	0	11229	1232	43	2	758	2	OR8B4	11	124294595	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	5920255	124294595	10711921	30	28061											
MYL2	4633	broad.mit.edu	37	chr12	111348957	111348957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtcacgtcaggggggAaggcggcgaacatctggtca	16	10	4	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:111348957A>G	ENST00000228841.8	-	7	472	c.425T>C	c.(424-426)tTc>tCc	p.F142S	MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	142	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTCAGGGGGGAAGGCGGCGAA	0.632																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(424-426)tTc>tCc		myosin, light chain 2, regulatory, cardiac, slow							149	126	134					12																	111348957		2203	4300	6503	SO:0001583	missense	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348957A>G		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"Myosins / Light chain", "EF-hand domain containing"	7583	protein-coding gene	gene with protein product	"cardiac ventricular myosin light chain 2"	160781	"myosin, light polypeptide 2, regulatory, cardiac, slow"			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.425T>C	12.37:g.111348957A>G	ENSP00000228841:p.Phe142Ser					MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	p.F142S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN			7	472	-			142			EF-hand 3.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.425T>C	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003406	0.35320	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	T;T	0.79141	-1.24;-1.24	4.95	4.95	0.65309	EF-hand-like domain (1);	0.095662	0.64402	D	0.000001	T	0.79753	0.4500	L	0.33339	1.005	0.80722	D	1	P	0.46656	0.882	P	0.61132	0.884	T	0.76658	-0.2878	10	0.25751	T	0.34	.	13.902	0.63809	1.0:0.0:0.0:0.0	.	142	P10916	MLRV_HUMAN	S	142;128	ENSP00000228841:F142S;ENSP00000447154:F128S	ENSP00000228841:F142S	F	-	2	0	MYL2	109833340	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.550000	0.90675	1.977000	0.57605	0.448000	0.29417	TTC		0.632	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		4	235	0	0	0	1	0	4	235					G	111348957	A	G	111348957	3	3	232	1	0	0	0	0	1	0	0	0	10047	246	9	3	79	3	MYL2	12	111348957	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08		111348957	22502938	31	28062											
PCDH20	64881	broad.mit.edu	37	chr13	61986933	61986933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaccacaccatctatctcGtttgctatgtaacgagggac	7	11	2	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	ENST00000409186.1	-	5	3404	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	PCDH20_ENST00000409204.4_Silent_p.N433N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	433	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)|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)		CATCTATCTCGTTTGCTATGT	0.418																																						ENST00000409186.1																			0				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						c.(1297-1299)aaC>aaT		protocadherin 20							106	109	108					13																	61986933		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986933G>A	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.1299C>T	13.37:g.61986933G>A						PCDH20_ENST00000409204.4_Silent_p.N433N	p.N433N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3404	-		Breast(118;0.195)|Prostate(109;0.229)	406			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1299C>T	CCDS9442.2																																																																																				0.418	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		22	86	0	0	0	1	0	22	86					A	61986933	G	A	61986933	2	1	232	1	0	0	0	0	0	0	0	1	11515	1136	40	1		1	PCDH20	13	61986933	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		61986933	53182945	32	28063											
MYH6	4624	broad.mit.edu	37	chr14	23862627	23862627	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcaacctgaaggtcaTccagggcctgctgatgggcc	11	14	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	ENST00000356287.3	-	22	3058	c.3029A>G	c.(3028-3030)gAt>gGt	p.D1010G	MYH6_ENST00000405093.3_Missense_Mutation_p.D1010G			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1010					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)		CTGAAGGTCATCCAGGGCCTG	0.512																																						ENST00000405093.3																			0				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						c.(3028-3030)gAt>gGt		myosin, heavy chain 6, cardiac muscle, alpha							155	142	147					14																	23862627		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862627T>C	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.3029A>G	14.37:g.23862627T>C	ENSP00000348634:p.Asp1010Gly					MYH6_ENST00000356287.3_Missense_Mutation_p.D1010G	p.D1010G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	23	3099	-	all_cancers(95;2.54e-05)		1010					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3029A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	21.0	4.084480	0.76642	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87887	-2.31;-2.31	5.12	5.12	0.69794	.	.	.	.	.	D	0.93989	0.8075	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94636	0.7826	9	0.56958	D	0.05	.	15.2119	0.73230	0.0:0.0:0.0:1.0	.	1010	P13533	MYH6_HUMAN	G	1010	ENSP00000386041:D1010G;ENSP00000348634:D1010G	ENSP00000348634:D1010G	D	-	2	0	MYH6	22932467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	2.067000	0.61834	0.528000	0.53228	GAT		0.512	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			56	53	0	0	0	1	0	56	53					C	23862627	T	C	23862627	3	2	232	1	0	0	0	0	1	0	0	0	10038	1435	50	3	2858	3	MYH6	14	23862627	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08		23862627	83486913	33	28064											
MGAT2	4247	broad.mit.edu	37	chr14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	CTAA	-													aatacatgtttccagaaactCtaactatcagtgaaaagttt					rs563513161	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	ENST00000305386.2	+	1	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctaactfs	p.LT411fs	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	411					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)					TCCAGAAACTCTAACTATCAGTGA	0.392																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(1231-1236)ctfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase				13,4251		6,1,2125						2.3	1			53	36,8218		18,0,4109	no	frameshift	MGAT2	NM_002408.3		24,1,6234	A1A1,A1R,RR		0.4362,0.3049,0.3914				49,12469				SO:0001589	frameshift_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50089217_50089220delCTAA	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.1231_1234delCTAA	14.37:g.50089217_50089220delCTAA	ENSP00000307423:p.Leu411fs					RP11-649E7.5_ENST00000555043.1_RNA	p.LT411fs	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	1729_1732	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		411					B3KPC5|B3KQM0	Frame_Shift_Del	DEL	ENST00000305386.2	37	c.1231_1234delCTAA	CCDS9690.1																																																																																				0.392	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		29	47						29	47	---	---	---	---	-	50089220	CTAA	-	50089217	7	5	232	1	0	1	0	1	0	0	0	0	9543	912	32	0	1233	0	MGAT2	14	50089217	Frame_Shift_Del	DEL	CTAA	TCGA-HT-7469-01A-11D-2253-08	26226590	50089217	57260323	34	28065											
AHNAK2	113146	broad.mit.edu	37	chr14	105421333	105421333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtgctgggcatcgctGgaagcccactcttcatcctg	13	14	2	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	ENST00000333244.5	-	6	731	c.612C>T	c.(610-612)tcC>tcT	p.S204S	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	204						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)			GGGCATCGCTGGAAGCCCACT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(610-612)tcC>tcT		AHNAK nucleoprotein 2							41	44	43					14																	105421333		1974	4153	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421333G>A	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.612C>T	14.37:g.105421333G>A							p.S204S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	731	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	204					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.612C>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	24	0	0	0	1	0	3	24					A	105421333	G	A	105421333	2	1	232	1	0	0	0	0	0	0	0	1	415	1335	47	2		2	AHNAK2	14	105421333	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	55332116	105421333	1928207	35	28066											
LRRC49	54839	broad.mit.edu	37	chr15	71300791	71300791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccttgttgaagtggacGgggatacactttccctatat	9	9	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	ENST00000260382.5	+	12	1503	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R|LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	415						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAAGTGGACGGGGATACACT	0.418																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1243-1245)Ggg>Agg		leucine rich repeat containing 49							97	87	90					15																	71300791		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71300791G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1243G>A	15.37:g.71300791G>A	ENSP00000260382:p.Gly415Arg					LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R	p.G415R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			12	1503	+			415					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1243G>A	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186711	0.78789	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.54479	0.6;0.62;0.57	5.45	5.45	0.79879	.	0.058183	0.64402	D	0.000002	T	0.72061	0.3414	M	0.71036	2.16	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.998;0.998;0.996;0.998	T	0.73672	-0.3909	10	0.56958	D	0.05	-15.7151	16.7765	0.85552	0.0:0.0:1.0:0.0	.	420;387;371;415;405	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	405;415;371;387	ENSP00000439600:G405R;ENSP00000260382:G415R;ENSP00000414065:G371R	ENSP00000260382:G415R	G	+	1	0	LRRC49	69087845	1.000000	0.71417	0.701000	0.30321	0.595000	0.36748	8.561000	0.90715	2.538000	0.85594	0.650000	0.86243	GGG		0.418	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		3	61	0	0	0	1	0	3	61					A	71300791	G	A	71300791	3	1	232	1	0	0	0	0	1	0	0	0	9006	1116	39	1	1289	1	LRRC49	15	71300791	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		71300791	31230601	36	28067											
TXNDC11	51061	broad.mit.edu	37	chr16	11785796	11785796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggggacgctgtgatcGttggcgggtctggcagctgt	19	8	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	ENST00000356957.3	-	9	1438	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	444					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGCTGTGATCGTTGGCGGGTC	0.642																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1330-1332)aCg>aTg		thioredoxin domain containing 11							39	38	38					16																	11785796		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785796G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1331C>T	16.37:g.11785796G>A	ENSP00000349439:p.Thr444Met					TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M	p.T444M			Q6PKC3	TXD11_HUMAN			9	1438	-			444					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1331C>T		.	.	.	.	.	.	.	.	.	.	G	2.450	-0.326602	0.05350	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.42900	0.96;0.96	5.11	-1.93	0.07594	.	1.359010	0.04404	N	0.364786	T	0.20170	0.0485	N	0.08118	0	0.09310	N	1	B;B	0.26547	0.152;0.133	B;B	0.13407	0.009;0.006	T	0.13818	-1.0495	10	0.46703	T	0.11	-10.7999	3.6895	0.08340	0.383:0.0:0.3404:0.2765	.	444;417	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	M	444;417	ENSP00000349439:T444M;ENSP00000283033:T417M	ENSP00000283033:T417M	T	-	2	0	TXNDC11	11693297	0.000000	0.05858	0.015000	0.15790	0.081000	0.17604	0.023000	0.13533	-0.318000	0.08665	-0.415000	0.06103	ACG		0.642	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		16	25	0	0	0	1	0	16	25					A	11785796	G	A	11785796	3	1	232	1	0	0	0	0	1	0	0	0	16789	1145	40	1	1646	1	TXNDC11	16	11785796	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		11785796	78568957	37	28068											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	51	0	0	0	1	0	31	51					A	7577539	G	A	7577539	3	1	232	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		7577539	73617671	38	28069											
TP53	7157	broad.mit.edu	37	chr17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagggcaactgaccgTgcaagtcacagacttggctg	11	14	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	ENST00000269305.4	-	4	562	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_ENST00000455263.2_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000359597.4_Missense_Mutation_p.T125P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(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)	CAACTGACCGTGCAAGTCACA	0.547		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		24	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(6)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|breast(2)|large_intestine(1)|stomach(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						c.(373-375)Acg>Ccg	Other conserved DNA damage response genes	tumor protein p53							66	61	63					17																	7579314		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579314T>G	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.373A>C	17.37:g.7579314T>G	ENSP00000269305:p.Thr125Pro	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)				TP53_ENST00000455263.2_Missense_Mutation_p.T125P|TP53_ENST00000269305.4_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000359597.4_Missense_Mutation_p.T125P	p.T125P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	505	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.373A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467962	0.84533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	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	0.99822	0.9921	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.998;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.977;0.998;0.998;0.998	D	0.96840	0.9617	10	0.66056	D	0.02	-16.188	12.5363	0.56144	0.0:0.0:0.0:1.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125P;ENSP00000352610:T125P;ENSP00000269305:T125P;ENSP00000398846:T125P;ENSP00000391127:T125P;ENSP00000391478:T125P;ENSP00000424104:T125P;ENSP00000426252:T125P	ENSP00000269305:T125P	T	-	1	0	TP53	7520039	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.383000	0.73172	2.125000	0.65367	0.533000	0.62120	ACG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	43	0	0	0	1	0	39	43					G	7579314	T	G	7579314	3	3	232	1	0	0	0	0	1	0	0	0	16378	1696	59	5	929	5	TP53	17	7579314	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	1775	7579314	73615896	39	28070											
MKNK2	2872	broad.mit.edu	37	chr19	2039675	2039675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccctttgccgccgctgCgccagcttggactgggaggg	16	14	0	0	rs376026750		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	ENST00000591601.1	-	13	1370	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MKNK2_ENST00000250896.3_Silent_p.A445A|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591142.1_Intron			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	445					cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		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)		GCCGCCGCTGCGCCAGCTTGG	0.692																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1333-1335)gcG>gcA		MAP kinase interacting serine/threonine kinase 2		C	,	1,4397		0,1,2198	29	28	28		,1335	1.5	1	19		28	1,8591		0,1,4295	no	intron,coding-synonymous	MKNK2	NM_017572.3,NM_199054.2	,	0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154	,	,445/466	2039675	2,12988	2199	4296	6495	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2039675C>T	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1335G>A	19.37:g.2039675C>T						MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591601.1_Silent_p.A445A|MKNK2_ENST00000591142.1_Intron	p.A445A	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		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)	14	1579	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	445					Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.1335G>A	CCDS12080.1																																																																																				0.692	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		3	45	0	0	0	1	0	3	45					T	2039675	C	T	2039675	2	4	232	1	0	0	0	0	0	0	0	1	9605	755	27	1		1	MKNK2	19	2039675	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		2039675	57089308	40	28071											
SEMA6B	10501	broad.mit.edu	37	chr19	4550923	4550923	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcaggtcaaaggcgcAgacagccgagccagggatgc	15	11	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	ENST00000586582.1	-	11	1319	c.1009T>C	c.(1009-1011)Tgc>Cgc	p.C337R	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	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)	p.C337S(1)		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)		TCAAAGGCGCAGACAGCCGAG	0.627																																						ENST00000586582.1																			1	Substitution - Missense(1)	p.C337S(1)	lung(1)	breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1009-1011)Tgc>Cgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							56	59	58					19																	4550923		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550923A>G	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.1009T>C	19.37:g.4550923A>G	ENSP00000467290:p.Cys337Arg					SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R	p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1319	-		Hepatocellular(1079;0.137)	337			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1009T>C	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.634166	0.67130	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	D	0.93906	-3.31	3.61	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054530	0.85682	U	0.000000	D	0.97548	0.9197	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97929	1.0319	10	0.87932	D	0	.	11.4984	0.50422	1.0:0.0:0.0:0.0	.	337;337	B4DT36;Q9H3T3	.;SEM6B_HUMAN	R	337	ENSP00000301293:C337R	ENSP00000301292:C337R	C	-	1	0	SEMA6B	4501923	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.922000	0.92789	1.656000	0.50722	0.392000	0.25879	TGC		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	94	0	0	0	1	0	3	94					G	4550923	A	G	4550923	3	3	232	1	0	0	0	0	1	0	0	0	14040	188	7	3	1685	3	SEMA6B	19	4550923	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08	2511248	4550923	54578060	41	28072											
DNMT1	1786	broad.mit.edu	37	chr19	10250948	10250948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccggggttgttcagccGgaacgcctgggccgcagggt	19	11	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	ENST00000340748.4	-	32	3767	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)	TTGTTCAGCCGGAACGCCTGG	0.612																																						ENST00000340748.4																			0				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						c.(3532-3534)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						45	49	48					19																	10250948		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10250948G>A	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.3532C>T	19.37:g.10250948G>A	ENSP00000345739:p.Arg1178Trp					DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W	p.R1178W			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		32	3767	-			1178			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3532C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544309	0.45280	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85088	-1.94;-1.94;-1.94	5.54	4.51	0.55191	.	0.051836	0.64402	N	0.000001	D	0.93167	0.7824	M	0.93328	3.405	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93204	0.6594	10	0.87932	D	0	-22.4734	8.3046	0.32034	0.0802:0.0:0.7648:0.155	.	1178;1194;1178	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	W	1194;1178;1178;1046	ENSP00000352516:R1194W;ENSP00000440457:R1178W;ENSP00000345739:R1178W	ENSP00000345739:R1178W	R	-	1	2	DNMT1	10111948	1.000000	0.71417	0.989000	0.46669	0.031000	0.12232	4.797000	0.62503	1.339000	0.45563	0.650000	0.86243	CGG		0.612	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		3	76	0	0	0	1	0	3	76					A	10250948	G	A	10250948	3	1	232	1	0	0	0	0	1	0	0	0	4675	1115	39	1	1354	1	DNMT1	19	10250948	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	5700025	10250948	48878035	42	28073											
UNC13A	23025	broad.mit.edu	37	chr19	17743590	17743590	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggggcaggggacttaCgcagggtactcaggcacgcg	18	11	1	0	rs565430059		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	ENST00000519716.2	-	28	3428		c.e28+1		UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000428389.2_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						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						AGGGGACTTACGCAGGGTACT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21443	0.0		0.0	False		,,,				2504	0.001					ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.e29+1		unc-13 homolog A (C. elegans)							83	88	86					19																	17743590		2077	4215	6292	SO:0001630	splice_region_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17743590C>T	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.3428+1G>A	19.37:g.17743590C>T						UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site				Q9UPW8	UN13A_HUMAN			29	3692	-								E5RHY9	Splice_Site	SNP	ENST00000519716.2	37		CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477548	0.63849	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7958	0.57558	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13A	17604590	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.620000	0.83070	1.585000	0.49928	0.298000	0.19748	.		0.552	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Intron	21	90	0	0	0	1	0	21	90					T	17743590	C	T	17743590	5	4	232	1	0	0	0	0	0	0	1	0	16981	550	19	1	1746	1	UNC13A	19	17743590	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7492642	17743590	41385393	43	28074											
RYR1	6261	broad.mit.edu	37	chr19	39039015	39039015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaagccttccaggactaCgtaacggatccccgtggcct	10	14	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	ENST00000359596.3	+	89	12237	c.12237C>T	c.(12235-12237)taC>taT	p.Y4079Y	RYR1_ENST00000355481.4_Silent_p.Y4074Y|RYR1_ENST00000360985.3_Silent_p.Y4074Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4079					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)	TCCAGGACTACGTAACGGATC	0.552																																						ENST00000355481.4																			0				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						c.(12220-12222)taC>taT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						162	131	141					19																	39039015		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39039015C>T	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.12237C>T	19.37:g.39039015C>T						RYR1_ENST00000360985.3_Silent_p.Y4074Y|RYR1_ENST00000359596.3_Silent_p.Y4079Y	p.Y4074Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12353	+	all_cancers(60;7.91e-06)		4079					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12222C>T	CCDS33011.1																																																																																				0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			34	60	0	0	0	1	0	34	60					T	39039015	C	T	39039015	2	4	232	1	0	0	0	0	0	0	0	1	13768	547	19	1		1	RYR1	19	39039015	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	21295425	39039015	20089968	44	28075											
NSFL1C	55968	broad.mit.edu	37	chr20	1445045	1445045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgtcttcatcccctccGtcctcataaaagctcgctag	5	15	3	0	rs191322139	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000476071.1_Silent_p.D44D|NSFL1C_ENST00000353088.2_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						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						CATCCCCTCCGTCCTCATAAA	0.522													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21490	0.001		0.0	False		,,,				2504	0.0					ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(130-132)gaC>gaT		NSFL1 (p97) cofactor (p47)							157	142	147					20																	1445045		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1445045G>A	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.132C>T	20.37:g.1445045G>A						NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.D44D	p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			2	999	-			44					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.132C>T	CCDS13015.1																																																																																				0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		12	165	0	0	0	1	0	12	165					A	1445045	G	A	1445045	2	1	232	1	0	0	0	0	0	0	0	1	10672	1136	40	1		1	NSFL1C	20	1445045	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		1445045	61580475	45	28076											
CHGB	1114	broad.mit.edu	37	chr20	5905694	5905694	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaattcagccaaaggggctGactgtcattggagcggtggg	16	7	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	ENST00000378961.4	+	5	2237	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	0						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(2032-2034)tGa>tAa		chromogranin B (secretogranin 1)							75	72	73					20																	5905694		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5905694G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2033G>A	20.37:g.5905694G>A							p.*678*	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			5	2237	+			0					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.2033G>A	CCDS13092.1																																																																																				0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		23	23	0	0	0	1	0	23	23					A	5905694	G	A	5905694	2	1	232	1	0	0	0	0	0	0	0	1	3339	1285	45	2		2	CHGB	20	5905694	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	4460649	5905694	57119826	46	28077											
BPI	671	broad.mit.edu	37	chr20	36952337	36952337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagtgatggagtttccCgctgcccatgaccgcatggt	11	14	0	2	rs201390253		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.001		0.0	False		,,,				2504	0.0					ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(832-834)ccC>ccT		bactericidal/permeability-increasing protein							127	105	113					20																	36952337		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952337C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.834C>T	20.37:g.36952337C>T						CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	p.P278P	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	923	+		Myeloproliferative disorder(115;0.00878)	278					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.834C>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159733	0.06502	.	.	ENSG00000101425	ENST00000417318	T	0.08720	3.06	4.29	-3.87	0.04218	.	0.198008	0.35436	N	0.003215	T	0.03959	0.0111	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36866	-0.9730	7	0.22109	T	0.4	-13.4317	2.9817	0.05955	0.1101:0.3214:0.1144:0.4541	.	.	.	.	L	104	ENSP00000409833:P104L	ENSP00000409833:P104L	P	+	2	0	BPI	36385751	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.575000	0.00213	-0.985000	0.03503	-2.048000	0.00412	CCG		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		34	54	0	0	0	1	0	34	54					T	36952337	C	T	36952337	2	4	232	1	0	0	0	0	0	0	0	1	1490	639	23	1		1	BPI	20	36952337	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	31046643	36952337	26073183	47	28078											
ZNF217	7764	broad.mit.edu	37	chr20	52198916	52198916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaagtgaaagaatctttGtgtgttctcatgtggatctc	10	7	3	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	ENST00000371471.2	-	2	875	c.450C>G	c.(448-450)caC>caG	p.H150Q	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q			O75362	ZN217_HUMAN	zinc finger protein 217	150					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAATCTTTGTGTGTTCTCA	0.423																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(448-450)caC>caG		zinc finger protein 217							150	142	144					20																	52198916		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198916G>C	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.450C>G	20.37:g.52198916G>C	ENSP00000360526:p.His150Gln					ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q	p.H150Q			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	875	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		150					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.450C>G	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761959	0.69763	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	D;D	0.81908	-1.55;-1.55	5.79	-0.949	0.10376	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	0.90570	0.7044	M	0.93283	3.4	0.48511	D	0.999664	D	0.89917	1.0	D	0.97110	1.0	D	0.87229	0.2259	10	0.87932	D	0	-35.7717	5.7526	0.18154	0.5294:0.142:0.3286:0.0	.	150	O75362	ZN217_HUMAN	Q	150	ENSP00000360526:H150Q;ENSP00000304308:H150Q	ENSP00000304308:H150Q	H	-	3	2	ZNF217	51632323	1.000000	0.71417	0.953000	0.39169	0.944000	0.59088	2.466000	0.45084	-0.030000	0.13804	0.655000	0.94253	CAC		0.423	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		8	158	0	0	0	1	0	8	158					C	52198916	G	C	52198916	3	2	232	1	0	0	0	0	1	0	0	0	17769	1368	48	4	2712	4	ZNF217	20	52198916	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	15246579	52198916	10826604	48	28079											
MX2	4600	broad.mit.edu	37	chr21	42774042	42774042	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcccgcccttagcatgctCcagaaagccatgggtgagga	13	12	0	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	ENST00000330714.3	+	11	1744	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	520					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1558-1560)ctC>ctT		myxovirus (influenza virus) resistance 2 (mouse)							86	83	84					21																	42774042		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42774042C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1560C>T	21.37:g.42774042C>T						MX2_ENST00000496774.1_3'UTR	p.L520L	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			11	1744	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	520					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.1560C>T	CCDS13672.1																																																																																				0.517	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		21	67	0	0	0	1	0	21	67					T	42774042	C	T	42774042	2	4	232	1	0	0	0	0	0	0	0	1	9998	842	30	2		2	MX2	21	42774042	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		42774042	5355853	49	28080											
ADARB1	104	broad.mit.edu	37	chr21	46624592	46624592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagggccatgtaccagcGgatctccaacatagaggacc	10	13	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	ENST00000360697.3	+	8	1823	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	ADARB1_ENST00000539173.1_Missense_Mutation_p.R603Q|ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	603	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1807-1809)cGg>cAg		adenosine deaminase, RNA-specific, B1							138	118	125					21																	46624592		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46624592G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1808G>A	21.37:g.46624592G>A	ENSP00000353920:p.Arg603Gln					ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.R603Q	p.R603Q	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	10	2243	+			603			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1808G>A	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399976	0.96030	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	4.77	4.77	0.60923	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.93550	3.43	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	0.99640	1.0988	10	0.87932	D	0	-40.3012	15.673	0.77292	0.0:0.0:1.0:0.0	.	603;563;591;603	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	Q	603;603;603;563;603	ENSP00000441897:R603Q;ENSP00000374513:R603Q;ENSP00000015877:R563Q;ENSP00000353920:R603Q	ENSP00000015877:R563Q	R	+	2	0	ADARB1	45449020	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.349000	0.97066	2.365000	0.80145	0.650000	0.86243	CGG		0.522	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		37	55	0	0	0	1	0	37	55					A	46624592	G	A	46624592	3	1	232	1	0	0	0	0	1	0	0	0	282	1116	39	1	1838	1	ADARB1	21	46624592	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	3850550	46624592	1505303	50	28081											
SEC14L4	284904	broad.mit.edu	37	chr22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccggctgtaggtgttgtCgaagcgcaggacatctgcag	14	10	1	0	rs564814217		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	ENST00000255858.7	-	12	1179	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SEC14L4_ENST00000381982.3_Intron|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000540456.1_Missense_Mutation_p.D351N|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		24192	0.001		0.0	False		,,,				2504	0.0					ENST00000540456.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(1051-1053)Gac>Aac		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						144	108	120					22																	30886219		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30886219C>T	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1096G>A	22.37:g.30886219C>T	ENSP00000255858:p.Asp366Asn					SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000381982.3_Intron	p.D351N			Q9UDX3	S14L4_HUMAN			13	1244	-			366			GOLD.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.1051G>A	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896318	0.91962	.	.	ENSG00000133488	ENST00000255858;ENST00000540456	T;T	0.58652	0.32;0.32	4.34	4.34	0.51931	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89127	0.3507	10	0.72032	D	0.01	0.2618	15.9892	0.80188	0.0:1.0:0.0:0.0	.	351;366	G3V1L4;Q9UDX3	.;S14L4_HUMAN	N	366;351	ENSP00000255858:D366N;ENSP00000440848:D351N	ENSP00000255858:D366N	D	-	1	0	SEC14L4	29216219	1.000000	0.71417	0.980000	0.43619	0.870000	0.49936	7.269000	0.78482	2.151000	0.67156	0.491000	0.48974	GAC		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		27	85	0	0	0	1	0	27	85					T	30886219	C	T	30886219	3	4	232	1	0	0	0	0	1	0	0	0	13984	884	31	1	134	1	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		30886219	20418347	51	28082											
DMC1	11144	broad.mit.edu	37	chr22	38935415	38935415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctaaggcgatctggaCggctggagtatgccaagatt	13	9	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	ENST00000216024.2	-	9	773	c.497G>A	c.(496-498)cGt>cAt	p.R166H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	166					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)					GCGATCTGGACGGCTGGAGTA	0.403								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(496-498)cGt>cAt	Homologous recombination	DNA meiotic recombinase 1							131	111	118					22																	38935415		2203	4300	6503	SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38935415C>T	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.497G>A	22.37:g.38935415C>T	ENSP00000216024:p.Arg166His					DMC1_ENST00000428462.2_Intron	p.R166H	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			9	773	-	Melanoma(58;0.0286)		166					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.497G>A	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396926	0.96009	.	.	ENSG00000100206	ENST00000216024	T	0.59224	0.28	5.51	5.51	0.81932	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86671	0.1910	10	0.87932	D	0	-8.385	19.4131	0.94683	0.0:1.0:0.0:0.0	.	166	Q14565	DMC1_HUMAN	H	166	ENSP00000216024:R166H	ENSP00000216024:R166H	R	-	2	0	DMC1	37265361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.584000	0.82572	2.588000	0.87417	0.591000	0.81541	CGT		0.403	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		35	46	0	0	0	1	0	35	46					T	38935415	C	T	38935415	3	4	232	1	0	0	0	0	1	0	0	0	4579	536	19	1	549	1	DMC1	22	38935415	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	8049196	38935415	12369151	52	28083											
ATRX	546	broad.mit.edu	37	chrX	76939510	76939511	+	Frame_Shift_Del	DEL	AA	AA	-													tcgctcgaaactcggaatttAagtcttcttccaatgcaaga							TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	ENST00000373344.5	-	9	1451_1452	c.1237_1238delTT	c.(1237-1239)ttafs	p.L413fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	413					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						CTCGGAATTTAAGTCTTCTTCC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1237-1239)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939510_76939511delAA	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.1237_1238delTT	X.37:g.76939510_76939511delAA	ENSP00000362441:p.Leu413fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	p.L413fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1451_1452	-			413					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1237_1238delTT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		187	6						187	6	---	---	---	---	-	76939511	AA	-	76939510	7	5	232	1	0	1	0	1	0	0	0	0	1208	372	13	0	6348	0	ATRX	23	76939510	Frame_Shift_Del	DEL	AA	TCGA-HT-7469-01A-11D-2253-08		76939510	78331050	53	28084											
RBMX	27316	broad.mit.edu	37	chrX	135956319	135956319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctagtatctgcttctgccTccccctctatcagatcggct	6	15	5	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	ENST00000320676.7	-	9	1312	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Silent_p.G251G|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	386	Necessary for RNA-binding.				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)			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)					TGCTTCTGCCTCCCCCTCTAT	0.483																																						ENST00000320676.7																			0				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						c.(1156-1158)ggA>ggG		RNA binding motif protein, X-linked							43	45	44					X																	135956319		2166	4172	6338	SO:0001819	synonymous_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135956319T>C		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.1158A>G	X.37:g.135956319T>C						RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Silent_p.G251G	p.G386G	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN			9	1312	-	Acute lymphoblastic leukemia(192;0.000127)		386					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	c.1158A>G	CCDS14661.1																																																																																				0.483	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		4	76	0	0	0	1	0	4	76					C	135956319	T	C	135956319	2	2	232	1	0	0	0	0	0	0	0	1	13151	1538	54	3		3	RBMX	23	135956319	Silent	SNP	T	TCGA-HT-7469-01A-11D-2253-08	59016809	135956319	19314241	54	28085											
AGL	178	broad.mit.edu	37	chr1	100346642	100346642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctagcatagatcagCgtatgatgctcttccaagta	8	9	4	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:100346642C>T	ENST00000294724.4	+	15	2388	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	AGL_ENST00000361915.3_Missense_Mutation_p.A637V|AGL_ENST00000361522.4_Missense_Mutation_p.A620V|AGL_ENST00000361302.3_Missense_Mutation_p.A621V|AGL_ENST00000370165.3_Missense_Mutation_p.A637V|AGL_ENST00000370161.2_Missense_Mutation_p.A621V|AGL_ENST00000370163.3_Missense_Mutation_p.A637V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	637					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATAGATCAGCGTATGATGCT	0.353																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(1909-1911)gCg>gTg		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							172	155	161					1																	100346642		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346642C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1910C>T	1.37:g.100346642C>T	ENSP00000294724:p.Ala637Val					AGL_ENST00000370163.3_Missense_Mutation_p.A637V|AGL_ENST00000361522.4_Missense_Mutation_p.A620V|AGL_ENST00000361302.3_Missense_Mutation_p.A621V|AGL_ENST00000361915.3_Missense_Mutation_p.A637V|AGL_ENST00000370161.2_Missense_Mutation_p.A621V|AGL_ENST00000370165.3_Missense_Mutation_p.A637V	p.A637V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	15	2388	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	637					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.1910C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.840044	0.00573	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.9	1.83	0.25207	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.268127	0.42821	N	0.000658	T	0.43033	0.1229	N	0.12471	0.22	0.50632	D	0.999882	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47420	-0.9119	10	0.02654	T	1	.	6.4565	0.21932	0.1271:0.6603:0.0:0.2126	.	620;621;637	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	V	637;637;637;637;621;621;620	ENSP00000355106:A637V;ENSP00000359184:A637V;ENSP00000359182:A637V;ENSP00000294724:A637V;ENSP00000354971:A621V;ENSP00000359180:A621V;ENSP00000354635:A620V	ENSP00000294724:A637V	A	+	2	0	AGL	100119230	0.040000	0.19996	0.151000	0.22473	0.148000	0.21650	0.413000	0.21148	0.069000	0.16605	-0.137000	0.14449	GCG		0.353	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		13	55	0	0	0	1	0	13	55					T	100346642	C	T	100346642	3	4	233	1	0	0	0	0	1	0	0	0	384	768	27	1	2033	1	AGL	1	100346642	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		100346642	148903979	1	28086											
CEPT1	10390	broad.mit.edu	37	chr1	111726868	111726868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtttgcaatcagattgCgtctcacctgcacatacatg	8	11	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:111726868C>T	ENST00000545121.1	+	9	1395	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Missense_Mutation_p.A396V|RP5-1180E21.4_ENST00000607951.1_RNA	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	396					CDP-choline pathway (GO:0006657)|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)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AATCAGATTGCGTCTCACCTG	0.398																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(1186-1188)gCg>gTg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						183	171	175					1																	111726868		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111726868C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.1187C>T	1.37:g.111726868C>T	ENSP00000441980:p.Ala396Val					CEPT1_ENST00000357172.4_Missense_Mutation_p.A396V|CEPT1_ENST00000467362.1_3'UTR	p.A396V	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	9	1395	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	396					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.1187C>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122067	0.94429	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.44881	0.91;0.91	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.63453	-0.6634	10	0.87932	D	0	-9.8794	17.4314	0.87540	0.0:1.0:0.0:0.0	.	396	Q9Y6K0	CEPT1_HUMAN	V	396	ENSP00000441980:A396V;ENSP00000349696:A396V	ENSP00000349696:A396V	A	+	2	0	CEPT1	111528391	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.298000	0.78815	2.711000	0.92665	0.655000	0.94253	GCG		0.398	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		5	110	0	0	0	1	0	5	110					T	111726868	C	T	111726868	3	4	233	1	0	0	0	0	1	0	0	0	3264	768	27	1	1217	1	CEPT1	1	111726868	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	11380226	111726868	137523753	2	28087											
TCHH	7062	broad.mit.edu	37	chr1	152080904	152080904	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttcgtcctccatgaAttttctctcttgttcctggc	7	13	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:152080904A>T	ENST00000368804.1	-	2	4788	c.4789T>A	c.(4789-4791)Ttc>Atc	p.F1597I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				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)			TCCTCCATGAATTTTCTCTCT	0.582																																						ENST00000368804.1																			0				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						c.(4789-4791)Ttc>Atc		trichohyalin							74	75	74					1																	152080904		1925	4123	6048	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080904A>T	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.4789T>A	1.37:g.152080904A>T	ENSP00000357794:p.Phe1597Ile						p.F1597I	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4788	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1597			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4789T>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	9.468	1.094854	0.20471	.	.	ENSG00000159450	ENST00000368804	T	0.04917	3.53	3.01	-1.38	0.09027	.	.	.	.	.	T	0.01156	0.0038	L	0.43152	1.355	0.09310	N	1	B	0.33549	0.417	B	0.19666	0.026	T	0.47195	-0.9136	9	0.22109	T	0.4	.	2.9985	0.06005	0.459:0.0:0.3449:0.1961	.	1597	Q07283	TRHY_HUMAN	I	1597	ENSP00000357794:F1597I	ENSP00000357794:F1597I	F	-	1	0	TCHH	150347528	0.002000	0.14202	0.034000	0.17996	0.078000	0.17371	0.545000	0.23268	0.215000	0.20761	0.155000	0.16302	TTC		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		33	61	0	0	0	1	0	33	61					T	152080904	A	T	152080904	3	4	233	1	0	0	0	0	1	0	0	0	15697	101	4	5	1046	5	TCHH	1	152080904	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	40354036	152080904	97169717	3	28088											
CFH	3075	broad.mit.edu	37	chr1	196642210	196642210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctatctataaatgccgccCtggatatagatctcttggaa	9	9	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:196642210C>A	ENST00000359637.2	+	2	223	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CFH_ENST00000439155.2_Missense_Mutation_p.P54H|CFH_ENST00000367429.4_Missense_Mutation_p.P54H|CFH_ENST00000496761.1_3'UTR			P08603	CFAH_HUMAN	complement factor H	116	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.			RP -> IL (in Ref. 5; CAB41739). {ECO:0000305}.	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						AAATGCCGCCCTGGATATAGA	0.403																																						ENST00000367429.4																			0				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						c.(160-162)cCt>cAt		complement factor H							75	81	79					1																	196642210		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196642210C>A	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	ENST00000359637.2:c.161C>A	1.37:g.196642210C>A	ENSP00000352658:p.Pro54His					CFH_ENST00000439155.2_Missense_Mutation_p.P54H|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000359637.2_Missense_Mutation_p.P54H	p.P54H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			2	401	+			54	RP -> IL (in Ref. 5; CAB41739).		Sushi 1.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.161C>A		.	.	.	.	.	.	.	.	.	.	C	14.11	2.437150	0.43224	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.67171	-0.25;-0.25;-0.25	5.12	4.2	0.49525	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80116	0.4564	M	0.80183	2.485	0.28895	N	0.893622	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.72171	-0.4371	9	0.37606	T	0.19	.	9.5043	0.39037	0.0:0.9012:0.0:0.0988	.	54;54;54;54	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	54	ENSP00000356399:P54H;ENSP00000402656:P54H;ENSP00000352658:P54H	ENSP00000352658:P54H	P	+	2	0	CFH	194908833	1.000000	0.71417	0.948000	0.38648	0.191000	0.23601	3.997000	0.57016	1.153000	0.42468	0.561000	0.74099	CCT		0.403	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		7	106	1	0	0.00621372	1	0.00641416	7	106					A	196642210	C	A	196642210	3	1	233	1	0	0	0	0	1	0	0	0	3283	681	24	4	167	4	CFH	1	196642210	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	44561306	196642210	52608411	4	28089											
C1orf131	128061	broad.mit.edu	37	chr1	231364922	231364922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggttaaattcttgtgtatCcacatctctctccaaaacac	4	11	3	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:231364922C>T	ENST00000366649.2	-	3	509	c.484G>A	c.(484-486)Gat>Aat	p.D162N	C1orf131_ENST00000366651.3_Missense_Mutation_p.D161N|C1orf131_ENST00000318906.2_Missense_Mutation_p.D162N			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	162							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(484-486)Gat>Aat		chromosome 1 open reading frame 131							44	45	45					1																	231364922		2198	4297	6495	SO:0001583	missense	128061							g.chr1:231364922C>T	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.484G>A	1.37:g.231364922C>T	ENSP00000355609:p.Asp162Asn					C1orf131_ENST00000366651.3_Missense_Mutation_p.D161N|C1orf131_ENST00000366649.2_Missense_Mutation_p.D162N	p.D162N			Q8NDD1	CA131_HUMAN			3	512	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	162					Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	c.484G>A	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199403	0.06219	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.46451	0.87;0.87;2.59	4.5	-0.836	0.10770	.	0.724649	0.14225	N	0.333135	T	0.26919	0.0659	L	0.42245	1.32	0.18873	N	0.999985	B;B;B;B	0.28783	0.222;0.01;0.023;0.023	B;B;B;B	0.23419	0.046;0.006;0.016;0.016	T	0.13045	-1.0524	10	0.30854	T	0.27	-9.5578	4.5347	0.12022	0.144:0.5066:0.0:0.3494	.	161;162;161;162	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	N	162;162;161	ENSP00000355609:D162N;ENSP00000321341:D162N;ENSP00000355611:D161N	ENSP00000321341:D162N	D	-	1	0	C1orf131	229431545	0.000000	0.05858	0.346000	0.25655	0.045000	0.14185	-0.321000	0.08018	-0.121000	0.11787	-0.188000	0.12872	GAT		0.264	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		3	36	0	0	0	1	0	3	36					T	231364922	C	T	231364922	3	4	233	1	0	0	0	0	1	0	0	0	1998	855	30	2	417	2	C1orf131	1	231364922	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	34722712	231364922	17885699	5	28090											
RYR2	6262	broad.mit.edu	37	chr1	237872820	237872820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaacccagaagcagaggagCtcttccgcatggtggctgaa	12	11	1	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:237872820C>T	ENST00000366574.2	+	70	10500	c.10183C>T	c.(10183-10185)Ctc>Ttc	p.L3395F	RYR2_ENST00000360064.6_Missense_Mutation_p.L3393F|RYR2_ENST00000542537.1_Missense_Mutation_p.L3379F|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3395					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)			AGCAGAGGAGCTCTTCCGCAT	0.418																																						ENST00000366574.2																			0				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						c.(10183-10185)Ctc>Ttc		ryanodine receptor 2 (cardiac)							96	95	95					1																	237872820		1934	4135	6069	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872820C>T	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.10183C>T	1.37:g.237872820C>T	ENSP00000355533:p.Leu3395Phe					RYR2_ENST00000360064.6_Missense_Mutation_p.L3393F|RYR2_ENST00000542537.1_Missense_Mutation_p.L3379F	p.L3395F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		70	10500	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3395					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10183C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046028	0.75846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.98249	-0.39;-4.82;-0.39	5.5	3.61	0.41365	.	0.000000	0.49916	D	0.000122	D	0.98754	0.9581	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99383	1.0923	10	0.87932	D	0	-10.9438	10.6876	0.45852	0.0:0.7788:0.0:0.2212	.	3395	Q92736	RYR2_HUMAN	F	3395;3393;3379;350	ENSP00000355533:L3395F;ENSP00000353174:L3393F;ENSP00000443798:L3379F	ENSP00000353174:L3393F	L	+	1	0	RYR2	235939443	0.938000	0.31826	0.315000	0.25238	0.982000	0.71751	1.683000	0.37638	1.309000	0.44985	0.655000	0.94253	CTC		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	10	0	0	0	1	0	9	10					T	237872820	C	T	237872820	3	4	233	1	0	0	0	0	1	0	0	0	13769	797	28	2	10461	2	RYR2	1	237872820	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	6507898	237872820	11377801	6	28091											
ZNF638	27332	broad.mit.edu	37	chr2	71590305	71590305	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctgattggaatcctgagAtcctcccatcgagaaggtaa	9	10	0	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:71590305A>C	ENST00000409544.1	+	4	2032	c.1402A>C	c.(1402-1404)Atc>Ctc	p.I468L	ZNF638_ENST00000377802.2_Missense_Mutation_p.I468L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.I468L|ZNF638_ENST00000355812.3_Missense_Mutation_p.I468L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	468					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						GAATCCTGAGATCCTCCCATC	0.264																																						ENST00000409544.1																			0				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						c.(1402-1404)Atc>Ctc		zinc finger protein 638							56	57	56					2																	71590305		2201	4286	6487	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71590305A>C	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.1402A>C	2.37:g.71590305A>C	ENSP00000386433:p.Ile468Leu					ZNF638_ENST00000355812.3_Missense_Mutation_p.I468L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.I468L|ZNF638_ENST00000264447.4_Missense_Mutation_p.I468L	p.I468L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			4	2032	+			468					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1402A>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030240	0.35797	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.72051	-0.03;-0.62;0.56;-0.02;1.57;1.57	5.33	2.88	0.33553	.	0.449512	0.24005	N	0.042423	T	0.64159	0.2573	N	0.14661	0.345	0.31069	N	0.713202	P;P;P;D;D;P	0.56746	0.923;0.826;0.826;0.977;0.96;0.826	P;P;P;D;P;P	0.67103	0.584;0.811;0.811;0.949;0.891;0.811	T	0.62784	-0.6781	10	0.48119	T	0.1	-6.6911	3.81	0.08793	0.7141:0.0:0.0985:0.1874	.	468;574;468;468;468;468	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	L	468;574;47;468;468;468;468	ENSP00000386669:I468L;ENSP00000438189:I574L;ENSP00000348066:I468L;ENSP00000367033:I468L;ENSP00000264447:I468L;ENSP00000386433:I468L	ENSP00000264447:I468L	I	+	1	0	ZNF638	71443813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.113000	0.50376	2.156000	0.67533	0.528000	0.53228	ATC		0.264	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		21	42	0	0	0	1	0	21	42					C	71590305	A	C	71590305	3	2	233	1	0	0	0	0	1	0	0	0	18052	333	12	5	1412	5	ZNF638	2	71590305	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		71590305	171609068	7	28092											
LRRTM4	80059	broad.mit.edu	37	chr2	76975874	76975874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgacctggcgatggTggcgatgaagctgtggtctc	16	10	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:76975874T>C	ENST00000409093.1	-	4	2056	c.1720A>G	c.(1720-1722)Acc>Gcc	p.T574A	LRRTM4_ENST00000409911.1_Missense_Mutation_p.T575A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T574A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	574					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGGCGATGGTGGCGATGAAG	0.617																																						ENST00000409911.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(1723-1725)Acc>Gcc		leucine rich repeat transmembrane neuronal 4							150	138	142					2																	76975874		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76975874T>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1720A>G	2.37:g.76975874T>C	ENSP00000386357:p.Thr574Ala					LRRTM4_ENST00000409093.1_Missense_Mutation_p.T574A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T574A	p.T575A	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1946	-			574					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1723A>G	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268586	0.59540	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.57595	0.39;0.42;0.42	5.91	5.91	0.95273	.	.	.	.	.	T	0.40791	0.1131	N	0.24115	0.695	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34950	-0.9808	9	0.72032	D	0.01	.	14.3007	0.66346	0.0:0.0:0.0:1.0	.	574	Q86VH4	LRRT4_HUMAN	A	575;574;574	ENSP00000387228:T575A;ENSP00000387297:T574A;ENSP00000386357:T574A	ENSP00000386357:T574A	T	-	1	0	LRRTM4	76829382	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.352000	0.66028	2.259000	0.74868	0.528000	0.53228	ACC		0.617	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		45	143	0	0	0	1	0	45	143					C	76975874	T	C	76975874	3	2	233	1	0	0	0	0	1	0	0	0	9042	1696	59	3	56	3	LRRTM4	2	76975874	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	5385569	76975874	166223499	8	28093											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	78	1	0	9.17885e-22	1	1.03061e-21	28	78					T	209113113	G	T	209113113	3	4	233	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	132137239	209113113	34086260	9	28094											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000273077.4_5'Flank|PNKD_ENST00000248451.3_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		11	488						11	488	---	---	---	---	-	219134766	G	-	219134766	7	5	233	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HT-7470-01A-12D-2086-08	10021653	219134766	24064607	10	28095											
SPHKAP	80309	broad.mit.edu	37	chr2	228846502	228846502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcatgcattttgcaGtactggacaactgcatggaa	9	10	1	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:228846502G>A	ENST00000392056.3	-	12	5080	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	SPHKAP_ENST00000344657.5_Silent_p.Y1649Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1678						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)		GCATTTTGCAGTACTGGACAA	0.463																																						ENST00000392056.3																			0				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						c.(5032-5034)taC>taT		SPHK1 interactor, AKAP domain containing							107	95	99					2																	228846502		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228846502G>A		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.5034C>T	2.37:g.228846502G>A						SPHKAP_ENST00000344657.5_Silent_p.Y1649Y	p.Y1678Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5080	-		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)	1678					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.5034C>T	CCDS46537.1																																																																																				0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	91	0	0	0	1	0	4	91					A	228846502	G	A	228846502	2	1	233	1	0	0	0	0	0	0	0	1	15047	1024	36	2		2	SPHKAP	2	228846502	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9711736	228846502	14352871	11	28096											
TRPM8	79054	broad.mit.edu	37	chr2	234905020	234905020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggtctggaagttccAgaggtacttcctggtgcagg	14	9	1	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:234905020A>G	ENST00000324695.4	+	22	3030	c.2990A>G	c.(2989-2991)cAg>cGg	p.Q997R	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q575R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	997					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)	TGGAAGTTCCAGAGGTACTTC	0.537																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2989-2991)cAg>cGg		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						123	119	120					2																	234905020		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234905020A>G	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.2990A>G	2.37:g.234905020A>G	ENSP00000323926:p.Gln997Arg					TRPM8_ENST00000433712.2_Missense_Mutation_p.Q575R	p.Q997R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	22	3030	+		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)	997					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2990A>G	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687847	0.88639	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.62232	0.04;0.04;0.04	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	T	0.79227	0.4410	M	0.78916	2.43	0.32342	N	0.559659	D;D	0.89917	1.0;0.987	D;D	0.76071	0.987;0.953	D	0.84869	0.0824	10	0.87932	D	0	-32.8911	14.9253	0.70871	1.0:0.0:0.0:0.0	.	575;997	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	R	997;575;258	ENSP00000323926:Q997R;ENSP00000404423:Q575R;ENSP00000414198:Q258R	ENSP00000323926:Q997R	Q	+	2	0	TRPM8	234569759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.254000	0.74563	0.533000	0.62120	CAG		0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		8	70	0	0	0	1	0	8	70					G	234905020	A	G	234905020	3	3	233	1	0	0	0	0	1	0	0	0	16589	188	7	3	3072	3	TRPM8	2	234905020	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	6058518	234905020	8294353	12	28097											
KCNH8	131096	broad.mit.edu	37	chr3	19575424	19575424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagcagatcagaggagGgcagcttcagtcagggaact	13	10	3	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:19575424G>T	ENST00000328405.2	+	16	3423	c.3157G>T	c.(3157-3159)Ggc>Tgc	p.G1053C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1053	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAGAGGAGGGCAGCTTCAG	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3157-3159)Ggc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 8							84	80	82					3																	19575424		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575424G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3157G>T	3.37:g.19575424G>T	ENSP00000328813:p.Gly1053Cys						p.G1053C	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3423	+			1053			Ser-rich.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3157G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248361	0.59103	.	.	ENSG00000183960	ENST00000328405	D	0.99042	-5.36	5.5	4.62	0.57501	.	0.000000	0.32190	U	0.006455	D	0.98801	0.9596	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99019	1.0817	9	.	.	.	.	14.1525	0.65395	0.0724:0.0:0.9276:0.0	.	1053	Q96L42	KCNH8_HUMAN	C	1053	ENSP00000328813:G1053C	.	G	+	1	0	KCNH8	19550428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.731000	0.26058	1.317000	0.45149	0.655000	0.94253	GGC		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		5	51	1	0	0.014758	1	0.0149922	5	51					T	19575424	G	T	19575424	3	4	233	1	0	0	0	0	1	0	0	0	8038	1232	43	4	3219	4	KCNH8	3	19575424	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		19575424	178447006	13	28098											
MYRIP	25924	broad.mit.edu	37	chr3	40286033	40286033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtggcactgatgagaccCatctggcggatctggaggac	14	10	2	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:40286033C>A	ENST00000302541.6	+	13	2539	c.2197C>A	c.(2197-2199)Cat>Aat	p.H733N	MYRIP_ENST00000425621.1_Missense_Mutation_p.H668N|MYRIP_ENST00000444716.1_Missense_Mutation_p.H733N|MYRIP_ENST00000396217.3_Missense_Mutation_p.H644N|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.H546N	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	733	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGATGAGACCCATCTGGCGGA	0.602																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2197-2199)Cat>Aat		myosin VIIA and Rab interacting protein							62	58	59					3																	40286033		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40286033C>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2197C>A	3.37:g.40286033C>A	ENSP00000301972:p.His733Asn					MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.H733N|MYRIP_ENST00000396217.3_Missense_Mutation_p.H644N|MYRIP_ENST00000539167.1_Missense_Mutation_p.H546N|MYRIP_ENST00000425621.1_Missense_Mutation_p.H668N	p.H733N	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	13	2539	+			733			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.2197C>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998850	0.54147	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.3	3.49	0.39957	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.179321	0.47093	D	0.000246	T	0.11537	0.0281	N	0.08118	0	0.29681	N	0.841723	B;B;B	0.24963	0.115;0.018;0.009	B;B;B	0.28465	0.073;0.02;0.09	T	0.15235	-1.0444	9	.	.	.	.	13.8185	0.63306	0.0:0.3329:0.6671:0.0	.	644;668;733	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	N	733;733;668;644;546	ENSP00000398665:H733N;ENSP00000301972:H733N;ENSP00000389323:H668N;ENSP00000379519:H644N;ENSP00000438297:H546N	.	H	+	1	0	MYRIP	40261037	1.000000	0.71417	0.355000	0.25773	0.995000	0.86356	4.249000	0.58766	0.717000	0.32145	0.655000	0.94253	CAT		0.602	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		3	72	1	0	1	1	1	3	72					A	40286033	C	A	40286033	3	1	233	1	0	0	0	0	1	0	0	0	10100	594	21	4	2243	4	MYRIP	3	40286033	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	20710609	40286033	157736397	14	28099											
ABI3BP	25890	broad.mit.edu	37	chr3	100489774	100489774	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggactgttgtcaggcttTtggatgtatcgcacatgagg	14	7	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:100489774T>C	ENST00000284322.5	-	29	2530	c.2421A>G	c.(2419-2421)caA>caG	p.Q807Q	ABI3BP_ENST00000471714.1_Silent_p.Q1509Q|ABI3BP_ENST00000383691.4_Silent_p.Q761Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	807					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCAGGCTTTTGGATGTATC	0.468																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4525-4527)caA>caG		ABI family, member 3 (NESH) binding protein							168	169	169					3																	100489774		1967	4171	6138	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100489774T>C	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2421A>G	3.37:g.100489774T>C						ABI3BP_ENST00000284322.5_Silent_p.Q807Q|ABI3BP_ENST00000383691.4_Silent_p.Q761Q	p.Q1509Q			Q7Z7G0	TARSH_HUMAN			61	4636	-			807					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.4527A>G	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	T	8.106	0.777768	0.16120	.	.	ENSG00000154175	ENST00000495591	.	.	.	5.98	0.835	0.18886	.	.	.	.	.	T	0.58495	0.2126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51434	-0.8706	4	.	.	.	-0.3298	10.4645	0.44600	0.0:0.3434:0.0:0.6566	.	.	.	.	R	863	.	.	K	-	2	0	ABI3BP	101972464	0.970000	0.33590	0.793000	0.32043	0.899000	0.52679	0.102000	0.15272	-0.071000	0.12886	0.482000	0.46254	AAA		0.468	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			19	120	0	0	0	1	0	19	120					C	100489774	T	C	100489774	2	2	233	1	0	0	0	0	0	0	0	1	91	1838	64	3		3	ABI3BP	3	100489774	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	60203741	100489774	97532656	15	28100											
GPR149	344758	broad.mit.edu	37	chr3	154146852	154146852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtaggagctggagcagtCcaccaggcagccccagggcg	15	13	0	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:154146852C>T	ENST00000389740.2	-	1	652	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	185					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAGCAGTCCACCAGGCAG	0.657																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(553-555)Gac>Aac		G protein-coupled receptor 149							31	37	35					3																	154146852		2054	4195	6249	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146852C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.553G>A	3.37:g.154146852C>T	ENSP00000374390:p.Asp185Asn						p.D185N	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	652	-			185						Missense_Mutation	SNP	ENST00000389740.2	37	c.553G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280401	0.80692	.	.	ENSG00000174948	ENST00000389740	T	0.34859	1.34	5.41	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.269934	0.42294	D	0.000736	T	0.50274	0.1606	M	0.84433	2.695	0.39380	D	0.966245	P	0.47484	0.896	P	0.46419	0.516	T	0.62859	-0.6765	10	0.72032	D	0.01	-23.0233	13.7786	0.63069	0.0:0.9268:0.0:0.0732	.	185	Q86SP6	GP149_HUMAN	N	185	ENSP00000374390:D185N	ENSP00000374390:D185N	D	-	1	0	GPR149	155629546	0.985000	0.35326	0.746000	0.31095	0.860000	0.49131	2.675000	0.46875	1.289000	0.44618	0.655000	0.94253	GAC		0.657	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		7	37	0	0	0	1	0	7	37					T	154146852	C	T	154146852	3	4	233	1	0	0	0	0	1	0	0	0	6654	855	30	2	1658	2	GPR149	3	154146852	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	53657078	154146852	43875578	16	28101											
STATH	6779	broad.mit.edu	37	chr4	70866654	70866654	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaaccacaataccaacaAtataccttttaatatcatca	0	12	2	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:70866654A>G	ENST00000246895.4	+	5	288	c.177A>G	c.(175-177)caA>caG	p.Q59Q	STATH_ENST00000381060.2_Silent_p.Q49Q	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	59	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						AATACCAACAATATACCTTTT	0.373																																						ENST00000246895.4																			0				lung(2)|skin(1)	3						c.(175-177)caA>caG		statherin							224	201	209					4																	70866654		2203	4300	6503	SO:0001819	synonymous_variant	6779				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	g.chr4:70866654A>G		CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.177A>G	4.37:g.70866654A>G						STATH_ENST00000381060.2_Silent_p.Q49Q	p.Q59Q	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN			5	288	+			59			Hydrophobic; inhibits precipitation of calcium phosphate salts.		A6NKE9|B2R4F8	Silent	SNP	ENST00000246895.4	37	c.177A>G	CCDS3533.1																																																																																				0.373	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251550.1	NM_003154		38	127	0	0	0	1	0	38	127					G	70866654	A	G	70866654	2	3	233	1	0	0	0	0	0	0	0	1	15270	98	4	3		3	STATH	4	70866654	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70866654	120287622	17	28102											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	142						8	142	---	---	---	---	-	146077125	CAG	-	146077123	7	5	233	1	0	1	0	1	0	0	0	0	11314	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HT-7470-01A-12D-2086-08	75210469	146077123	45077153	18	28103											
C4orf41	60684	broad.mit.edu	37	chr4	184628079	184628079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgatgccttcatgttcTcaggtctcaaacaggtacag	9	11	3	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:184628079T>G	ENST00000334690.6	+	28	3377	c.3175T>G	c.(3175-3177)Tca>Gca	p.S1059A	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S665A|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S1059A	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1059					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CTTCATGTTCTCAGGTCTCAA	0.418																																						ENST00000334690.6																			0											c.(3175-3177)Tca>Gca		trafficking protein particle complex 11							96	88	91					4																	184628079		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184628079T>G		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.3175T>G	4.37:g.184628079T>G	ENSP00000335371:p.Ser1059Ala					TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S1059A|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S665A	p.S1059A	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			28	3377	+			1059					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.3175T>G	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925323	0.52759	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000512476	.	.	.	5.44	5.44	0.79542	.	0.149705	0.46442	D	0.000293	T	0.67477	0.2897	L	0.45470	1.425	0.58432	D	0.999997	D;D;D;D	0.69078	0.996;0.997;0.99;0.988	D;D;P;P	0.79108	0.929;0.992;0.875;0.802	T	0.62148	-0.6915	9	0.13470	T	0.59	.	15.5161	0.75826	0.0:0.0:0.0:1.0	.	790;665;1059;1059	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	A	1059;1059;665	.	ENSP00000335371:S1059A	S	+	1	0	C4orf41	184865073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.854000	0.69503	2.062000	0.61559	0.460000	0.39030	TCA		0.418	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		7	62	0	0	0	1	0	7	62					G	184628079	T	G	184628079	3	3	233	1	0	0	0	0	1	0	0	0	2270	1551	54	5	3281	5	C4orf41	4	184628079	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	38550956	184628079	6526197	19	28104											
CAPSL	133690	broad.mit.edu	37	chr5	35910530	35910530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatctttatcaaacctccGgaaaagttcttccacctctt	3	14	4	0	rs369979397		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:35910530G>A	ENST00000397367.2	-	3	379	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CAPSL_ENST00000514524.1_Missense_Mutation_p.R85W|CAPSL_ENST00000397366.1_Missense_Mutation_p.R85W	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in dbSNP:rs1445898).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R85R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAACCTCCGGAAAAGTTCT	0.358																																						ENST00000397367.2																			2	Substitution - coding silent(2)	p.R85R(2)	lung(2)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(253-255)Cgg>Tgg		calcyphosine-like		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	116	114	114		253,253	3.3	1	5		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CAPSL	NM_001042625.1,NM_144647.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	85/209,85/209	35910530	1,13005	2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910530G>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"EF-hand domain containing"	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.253C>T	5.37:g.35910530G>A	ENSP00000380524:p.Arg85Trp					CAPSL_ENST00000397366.1_Missense_Mutation_p.R85W|CAPSL_ENST00000514524.1_Missense_Mutation_p.R85W	p.R85W	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		3	379	-	all_lung(31;0.000268)		85		R -> Q (in dbSNP:rs1445898).	EF-hand 2.			Missense_Mutation	SNP	ENST00000397367.2	37	c.253C>T	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338556	0.41398	0.0	1.16E-4	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.38	3.32	0.38043	EF-hand-like domain (1);	0.583831	0.19450	N	0.113949	D	0.82861	0.5129	M	0.91612	3.225	0.23287	N	0.997973	D	0.58620	0.983	P	0.51999	0.687	T	0.75542	-0.3281	10	0.72032	D	0.01	-2.3175	8.6219	0.33866	0.08:0.0:0.5277:0.3922	.	85	Q8WWF8	CAPSL_HUMAN	W	85	ENSP00000380524:R85W;ENSP00000380523:R85W;ENSP00000424806:R85W;ENSP00000421018:R85W	ENSP00000380523:R85W	R	-	1	2	CAPSL	35946287	0.770000	0.28543	0.998000	0.56505	0.133000	0.20885	1.073000	0.30691	0.560000	0.29169	0.462000	0.41574	CGG		0.358	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		14	74	0	0	0	1	0	14	74					A	35910530	G	A	35910530	3	1	233	1	0	0	0	0	1	0	0	0	2639	1115	39	1	385	1	CAPSL	5	35910530	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		35910530	145004730	20	28105											
RNF145	153830	broad.mit.edu	37	chr5	158621725	158621725	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggggtcatattcttaccTggaaatttgatgtccagcat	9	7	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:158621725T>C	ENST00000424310.2	-	3	651	c.292A>G	c.(292-294)Agg>Ggg	p.R98G	RNF145_ENST00000520638.1_Splice_Site_p.R112G|RNF145_ENST00000521606.2_Splice_Site_p.R115G|RNF145_ENST00000518802.1_Splice_Site_p.R128G|RNF145_ENST00000519865.1_Splice_Site_p.R98G|RNF145_ENST00000274542.2_Splice_Site_p.R126G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	98						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTACCTGGAAATTTGA	0.363																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.e3+1		ring finger protein 145							102	116	111					5																	158621725		2203	4300	6503	SO:0001630	splice_region_variant	153830					integral to membrane	zinc ion binding	g.chr5:158621725T>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.293+1A>G	5.37:g.158621725T>C						RNF145_ENST00000519865.1_Splice_Site_p.R98_splice|RNF145_ENST00000274542.2_Splice_Site_p.R126_splice|RNF145_ENST00000520638.1_Splice_Site_p.R112_splice|RNF145_ENST00000518802.1_Splice_Site_p.R128_splice|RNF145_ENST00000521606.2_Splice_Site_p.R115_splice	p.R98_splice	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	651	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	98					B7Z903|B7Z949|E7EVI7|Q8IVP7	Splice_Site	SNP	ENST00000424310.2	37	c.293_splice	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058285	0.55325	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77358	-1.09;-1.08;-1.08;-1.09;-1.09;-1.09;-1.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006;0.004	B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.007;0.007;0.004	T	0.60500	-0.7251	10	0.34782	T	0.22	-14.1807	15.9397	0.79745	0.0:0.0:0.0:1.0	.	114;115;112;128;98;126	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	G	126;98;98;114;115;128;98;112	ENSP00000274542:R126G;ENSP00000430397:R98G;ENSP00000409064:R98G;ENSP00000430753:R114G;ENSP00000445115:R115G;ENSP00000430955:R128G;ENSP00000429071:R112G	ENSP00000274542:R126G	R	-	1	2	RNF145	158554303	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.546000	0.82137	2.164000	0.68074	0.529000	0.55759	AGG		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	Missense_Mutation	53	119	0	0	0	1	0	53	119					C	158621725	T	C	158621725	5	2	233	1	0	0	0	0	0	0	1	0	13447	1594	55	3	1735	3	RNF145	5	158621725	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	122711195	158621725	22293535	21	28106											
FAM153B	202134	broad.mit.edu	37	chr5	175533580	175533580	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagatgcaggtggacccagcCacgccggcaaagagtacgta	13	11	0	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:175533580C>A	ENST00000253490.4	+	16	906	c.849C>A	c.(847-849)gcC>gcA	p.A283A	FAM153B_ENST00000510151.1_Silent_p.A206A|FAM153B_ENST00000515817.1_Silent_p.A206A|FAM153B_ENST00000512862.1_Silent_p.A74A			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	283										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)		TGGACCCAGCCACGCCGGCAA	0.473																																						ENST00000253490.4																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16						c.(847-849)gcC>gcA		family with sequence similarity 153, member B							184	185	184					5																	175533580		2202	4298	6500	SO:0001819	synonymous_variant	202134							g.chr5:175533580C>A	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.849C>A	5.37:g.175533580C>A						FAM153B_ENST00000515817.1_Silent_p.A206A|FAM153B_ENST00000512862.1_Silent_p.A74A|FAM153B_ENST00000510151.1_Silent_p.A206A	p.A283A			P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	16	906	+	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)	283					A8MTI1	Silent	SNP	ENST00000253490.4	37	c.849C>A																																																																																					0.473	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		17	204	1	0	3.3946e-10	1	3.68228e-10	17	204					A	175533580	C	A	175533580	2	1	233	1	0	0	0	0	0	0	0	1	5461	581	21	4		4	FAM153B	5	175533580	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	16911855	175533580	5381680	22	28107											
COL19A1	1310	broad.mit.edu	37	chr6	70877920	70877920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctctttcctaagggtAttccatttaatgaacgaaac	5	11	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:70877920A>G	ENST00000322773.4	+	38	2551	c.2449A>G	c.(2449-2451)Att>Gtt	p.I817V	COL19A1_ENST00000393344.1_Missense_Mutation_p.I439V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	817	Triple-helical region 4 (COL4).			GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358). {ECO:0000305}.	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						TCCTAAGGGTATTCCATTTAA	0.279																																						ENST00000322773.4																			0				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						c.(2449-2451)Att>Gtt		collagen, type XIX, alpha 1							48	50	50					6																	70877920		2198	4293	6491	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70877920A>G		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.2449A>G	6.37:g.70877920A>G	ENSP00000316030:p.Ile817Val					COL19A1_ENST00000393344.1_Missense_Mutation_p.I439V	p.I817V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			38	2551	+			817	GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).		Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2449A>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	0.641	-0.813233	0.02798	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91464	-2.85;-2.78	5.92	-0.702	0.11265	.	0.861623	0.10203	N	0.703088	T	0.56277	0.1974	N	0.02775	-0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51949	-0.8640	10	0.11485	T	0.65	.	12.1394	0.53989	0.4882:0.0:0.5118:0.0	.	817	Q14993	COJA1_HUMAN	V	817;439	ENSP00000316030:I817V;ENSP00000377013:I439V	ENSP00000316030:I817V	I	+	1	0	COL19A1	70934641	0.963000	0.33076	0.145000	0.22337	0.070000	0.16714	0.169000	0.16641	-0.069000	0.12931	-0.366000	0.07423	ATT		0.279	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			11	75	0	0	0	1	0	11	75					G	70877920	A	G	70877920	3	3	233	1	0	0	0	0	1	0	0	0	3676	449	16	3	2595	3	COL19A1	6	70877920	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70877920	100237147	23	28108											
DOPEY1	23033	broad.mit.edu	37	chr6	83839856	83839856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagactgtgagcatgtgCagcctccacagtggctccag	11	12	1	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:83839856C>T	ENST00000349129.2	+	17	2616	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q767*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q777*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	786					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)		TGAGCATGTGCAGCCTCCACA	0.418																																						ENST00000349129.2																			0				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						c.(2356-2358)Cag>Tag		dopey family member 1							91	90	90					6																	83839856		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83839856C>T	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.2356C>T	6.37:g.83839856C>T	ENSP00000195654:p.Gln786*					DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q777*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q767*	p.Q786*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	17	2616	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	786					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.2356C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	43	9.831009	0.99275	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.72	5.72	0.89469	.	0.328094	0.34628	N	0.003813	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	.	.	.	X	786;767;767	.	ENSP00000237163:Q767X	Q	+	1	0	DOPEY1	83896575	0.991000	0.36638	0.996000	0.52242	0.976000	0.68499	2.881000	0.48538	2.704000	0.92352	0.467000	0.42956	CAG		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		21	49	0	0	0	1	0	21	49					T	83839856	C	T	83839856	4	4	233	1	0	0	0	0	0	1	0	0	4707	711	25	2	2414	2	DOPEY1	6	83839856	Nonsense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12961936	83839856	87275211	24	28109											
PRDM1	639	broad.mit.edu	37	chr6	106555167	106555167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaggaaattctggccGtggtcagaaaagagaaagaa	14	4	2	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:106555167G>A	ENST00000369096.4	+	7	2518	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRDM1_ENST00000369089.3_Missense_Mutation_p.V628M|PRDM1_ENST00000369091.2_Missense_Mutation_p.V726M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	762					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTCTGGCCGTGGTCAGAAA	0.478			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(2284-2286)Gtg>Atg		PR domain containing 1, with ZNF domain							87	92	90					6																	106555167		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106555167G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2284G>A	6.37:g.106555167G>A	ENSP00000358092:p.Val762Met					PRDM1_ENST00000369089.3_Missense_Mutation_p.V628M|PRDM1_ENST00000369091.2_Missense_Mutation_p.V726M	p.V762M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2518	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	762					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.2284G>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057430	0.07317	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06528	3.3;3.29;3.31	5.93	-3.17	0.05202	.	0.928117	0.09261	N	0.826540	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.08055	0.003;0.003	T	0.47535	-0.9110	10	0.39692	T	0.17	-2.0635	4.7316	0.12968	0.4863:0.0801:0.3318:0.1018	.	628;762	Q86WM7;O75626	.;PRDM1_HUMAN	M	726;762;725;628	ENSP00000358087:V726M;ENSP00000358092:V762M;ENSP00000358085:V628M	ENSP00000358085:V628M	V	+	1	0	PRDM1	106661860	0.003000	0.15002	0.043000	0.18650	0.982000	0.71751	-0.441000	0.06879	-0.409000	0.07553	-0.244000	0.11960	GTG		0.478	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			25	57	0	0	0	1	0	25	57					A	106555167	G	A	106555167	3	1	233	1	0	0	0	0	1	0	0	0	12450	1145	40	1	2323	1	PRDM1	6	106555167	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	22715311	106555167	64559900	25	28110											
MICAL1	64780	broad.mit.edu	37	chr6	109770958	109770958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcatgttttctggggatgTctgtgacagaagctggtaca	13	6	2	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:109770958T>C	ENST00000358807.3	-	10	1647	c.1336A>G	c.(1336-1338)Aca>Gca	p.T446A	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000358577.3_Missense_Mutation_p.T360A|MICAL1_ENST00000368952.4_Missense_Mutation_p.T465A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	446	Monooxygenase domain. {ECO:0000250}.				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)		TCTGGGGATGTCTGTGACAGA	0.607																																						ENST00000368952.4																			0				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						c.(1393-1395)Aca>Gca		microtubule associated monooxygenase, calponin and LIM domain containing 1							111	103	106					6																	109770958		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109770958T>C	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.1336A>G	6.37:g.109770958T>C	ENSP00000351664:p.Thr446Ala					MICAL1_ENST00000358807.3_Missense_Mutation_p.T446A|MICAL1_ENST00000358577.3_Missense_Mutation_p.T360A	p.T465A			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	10	1683	-		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)	446					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1393A>G	CCDS5076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.335530|4.335530	0.81801|0.81801	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000433205|ENST00000358807;ENST00000368952;ENST00000358577	.|T;T;T	.|0.59224	.|0.28;0.28;0.28	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Calponin homology domain (1);	.|0.064498	.|0.64402	.|D	.|0.000011	T|T	0.63248|0.63248	0.2495|0.2495	M|M	0.68317|0.68317	2.08|2.08	0.44966|0.44966	D|D	0.997988|0.997988	.|B;D;D	.|0.89917	.|0.132;1.0;0.999	.|B;D;D	.|0.83275	.|0.076;0.996;0.988	T|T	0.62732|0.62732	-0.6792|-0.6792	5|10	.|0.28530	.|T	.|0.3	.|.	11.5744|11.5744	0.50854|0.50854	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|465;360;446	.|B7Z3R5;Q8TDZ2-2;Q8TDZ2	.|.;.;MICA1_HUMAN	G|A	10|446;465;360	.|ENSP00000351664:T446A;ENSP00000357948:T465A;ENSP00000351385:T360A	.|ENSP00000351385:T360A	D|T	-|-	2|1	0|0	MICAL1|MICAL1	109877651|109877651	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.845000|7.845000	0.86875|0.86875	2.047000|2.047000	0.60756|0.60756	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		15	127	0	0	0	1	0	15	127					C	109770958	T	C	109770958	3	2	233	1	0	0	0	0	1	0	0	0	9569	1667	58	3	1931	3	MICAL1	6	109770958	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	3215791	109770958	61344109	26	28111											
TULP4	56995	broad.mit.edu	37	chr6	158850782	158850782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggtgagtgatttcacGtggagccatgatggaactca	12	9	2	3	rs142500811		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:158850782G>A	ENST00000367097.3	+	3	1753	c.396G>A	c.(394-396)acG>acA	p.T132T	TULP4_ENST00000367094.2_Silent_p.T132T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	132					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGATTTCACGTGGAGCCATG	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19571	0.0		0.0	False		,,,				2504	0.0					ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(394-396)acG>acA		tubby like protein 4							285	240	255					6																	158850782		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158850782G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.396G>A	6.37:g.158850782G>A						TULP4_ENST00000367094.2_Silent_p.T132T	p.T132T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	3	1753	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	132					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.396G>A	CCDS34561.1																																																																																				0.408	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		7	196	0	0	0	1	0	7	196					A	158850782	G	A	158850782	2	1	233	1	0	0	0	0	0	0	0	1	16773	1132	40	1		1	TULP4	6	158850782	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	49079824	158850782	12264285	27	28112											
SRPK2	6733	broad.mit.edu	37	chr7	104782648	104782648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaattttatgtcgtccattTggcaattcaccattgaattg	8	7	1	1	rs56003957	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr7:104782648T>C	ENST00000393651.3	-	11	1437	c.1350A>G	c.(1348-1350)ccA>ccG	p.P450P	SRPK2_ENST00000357311.3_Silent_p.P439P|SRPK2_ENST00000489828.1_Silent_p.P439P	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCGTCCATTTGGCAATTCAC	0.443													T|||	12	0.00239617	0.0	0.0	5008	,	,		22655	0.0		0.005	False		,,,				2504	0.0072					ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(1315-1317)ccA>ccG		SRSF protein kinase 2		T	,	8,4398	14.3+/-33.2	0,8,2195	166	157	160		1317,1350	5.3	1	7	dbSNP_129	160	59,8541	36.9+/-92.0	1,57,4242	no	coding-synonymous,coding-synonymous	SRPK2	NM_182691.1,NM_182692.1	,	1,65,6437	CC,CT,TT		0.686,0.1816,0.5151	,	439/689,450/700	104782648	67,12939	2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782648T>C	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1350A>G	7.37:g.104782648T>C						SRPK2_ENST00000393651.3_Silent_p.P450P|SRPK2_ENST00000489828.1_Silent_p.P439P	p.P439P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			10	1488	-			439			Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.1317A>G	CCDS34724.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	9.858	1.195517	0.22037	0.001816	0.00686	ENSG00000135250	ENST00000477925	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68420	-0.5413	4	.	.	.	-9.5197	15.5584	0.76219	0.0:0.0:0.0:1.0	rs56003957	.	.	.	E	46	.	.	K	-	1	0	SRPK2	104569884	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.698000	0.54771	2.138000	0.66242	0.454000	0.30748	AAA		0.443	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		22	118	0	0	0	1	0	22	118					C	104782648	T	C	104782648	2	2	233	1	0	0	0	0	0	0	0	1	15159	1799	63	3		3	SRPK2	7	104782648	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		104782648	54356015	28	28113											
FOXB2	442425	broad.mit.edu	37	chr9	79635448	79635448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagggctgcccttggcgtCcgtcatgcaccacctgggct	14	14	1	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:79635448C>T	ENST00000376708.1	+	1	878	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	293					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)|lung(8)|ovary(1)	10						CCCTTGGCGTCCGTCATGCAC	0.662																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(877-879)tCc>tTc		forkhead box B2							39	38	38					9																	79635448		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635448C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.878C>T	9.37:g.79635448C>T	ENSP00000365898:p.Ser293Phe						p.S293F	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	878	+			293						Missense_Mutation	SNP	ENST00000376708.1	37	c.878C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657248	0.67586	.	.	ENSG00000204612	ENST00000376708	D	0.96940	-4.18	3.41	3.41	0.39046	.	0.081596	0.51477	D	0.000086	D	0.96716	0.8928	L	0.43923	1.385	0.48135	D	0.99959	D	0.65815	0.995	D	0.75484	0.986	D	0.97137	0.9822	10	0.87932	D	0	.	13.7467	0.62879	0.0:1.0:0.0:0.0	.	293	Q5VYV0	FOXB2_HUMAN	F	293	ENSP00000365898:S293F	ENSP00000365898:S293F	S	+	2	0	FOXB2	78825268	0.965000	0.33210	0.947000	0.38551	0.841000	0.47740	5.298000	0.65710	1.713000	0.51359	0.462000	0.41574	TCC		0.662	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		15	51	0	0	0	1	0	15	51					T	79635448	C	T	79635448	3	4	233	1	0	0	0	0	1	0	0	0	5993	855	30	2	880	2	FOXB2	9	79635448	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		79635448	61577983	29	28114											
NOTCH1	4851	broad.mit.edu	37	chr9	139411837	139411837	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtgcacaccctcgtagCctgtggggtggggcaacagt	15	12	0	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:139411837C>A	ENST00000277541.6	-	9	1517	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	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)		ACCCTCGTAGCCTGTGGGGTG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.e9-1		notch 1							21	25	24					9																	139411837		2063	4205	6268	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139411837C>A	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.1442-1G>T	9.37:g.139411837C>A		HNSCC(8;0.001)					p.G481_splice	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	9	1517	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	481			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37	c.1441_splice	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142261	0.77775	.	.	ENSG00000148400	ENST00000277541	D	0.86769	-2.17	4.54	4.54	0.55810	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	H	0.99881	4.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99323	1.0907	10	0.87932	D	0	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	481	P46531	NOTC1_HUMAN	V	481	ENSP00000277541:G481V	ENSP00000277541:G481V	G	-	2	0	NOTCH1	138531658	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.314000	0.78988	2.062000	0.61559	0.557000	0.71058	GGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Missense_Mutation	4	10	1	0	1.23904e-05	1	1.32164e-05	4	10					A	139411837	C	A	139411837	5	1	233	1	0	0	0	0	0	0	1	0	10547	753	26	4	6329	4	NOTCH1	9	139411837	Splice_Site	SNP	C	TCGA-HT-7470-01A-12D-2086-08	59776389	139411837	1801594	30	28115											
CUBN	8029	broad.mit.edu	37	chr10	16990512	16990512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgtggtgtggaaacccCcagcactgatgctagaatca	11	11	1	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:16990512C>G	ENST00000377833.4	-	35	5239	c.5174G>C	c.(5173-5175)gGg>gCg	p.G1725A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11. {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)	GTGGAAACCCCCAGCACTGAT	0.512																																						ENST00000377833.4																			0				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						c.(5173-5175)gGg>gCg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						86	73	77					10																	16990512		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16990512C>G	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.5174G>C	10.37:g.16990512C>G	ENSP00000367064:p.Gly1725Ala						p.G1725A	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			35	5239	-			1725			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5174G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.690	0.128230	0.08981	.	.	ENSG00000107611	ENST00000377833	T	0.16597	2.33	5.55	-9.1	0.00714	CUB (5);	2.784540	0.01338	N	0.011467	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.11329	0.006	T	0.27640	-1.0068	10	0.09338	T	0.73	.	3.3176	0.07039	0.1849:0.3928:0.0946:0.3278	.	1725	O60494	CUBN_HUMAN	A	1725	ENSP00000367064:G1725A	ENSP00000367064:G1725A	G	-	2	0	CUBN	17030518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.370000	0.07523	-1.421000	0.02007	-0.793000	0.03317	GGG		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	49	0	0	0	1	0	11	49					G	16990512	C	G	16990512	3	3	233	1	0	0	0	0	1	0	0	0	4051	623	22	4	5829	4	CUBN	10	16990512	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		16990512	118544235	31	28116											
ANO9	338440	broad.mit.edu	37	chr11	429780	429780	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagagccatgaagatggcGaacaccaccgtgccatcatt	10	12	1	3	rs376910255		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:429780G>A	ENST00000332826.6	-	10	894	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	270					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|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)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAAGATGGCGAACACCACCG	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		11359	0.0		0.0	False		,,,				2504	0.001					ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(808-810)ttC>ttT		anoctamin 9				0,4386		0,0,2193	33	36	35		810	-6.8	0.3	11		35	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	ANO9	NM_001012302.2		0,1,6483	AA,AG,GG		0.0117,0.0,0.0077		270/783	429780	1,12967	2193	4291	6484	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:429780G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.810C>T	11.37:g.429780G>A							p.F270F	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			10	894	-			270					B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.810C>T	CCDS31326.1																																																																																				0.662	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		3	32	0	0	0	1	0	3	32					A	429780	G	A	429780	2	1	233	1	0	0	0	0	0	0	0	1	704	1049	37	1		1	ANO9	11	429780	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		429780	134576736	32	28117											
OR52E8	390079	broad.mit.edu	37	chr11	5878264	5878264	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcatacaggatcctgacAtaggagagaataataaggat	10	6	0	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:5878264A>C	ENST00000537935.1	-	1	700	c.669T>G	c.(667-669)taT>taG	p.Y223*	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	223						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(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCTGACATAGGAGAGAA	0.463																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(667-669)taT>taG		olfactory receptor, family 52, subfamily E, member 8							71	78	76					11																	5878264		2144	4296	6440	SO:0001587	stop_gained	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878264A>C	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.669T>G	11.37:g.5878264A>C	ENSP00000444054:p.Tyr223*					TRIM5_ENST00000380027.1_Intron	p.Y223*	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	700	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	223					B9EH38	Nonsense_Mutation	SNP	ENST00000537935.1	37	c.669T>G	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208456	0.39003	.	.	ENSG00000183269	ENST00000537935	.	.	.	4.53	2.26	0.28386	.	0.000000	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0801	0.14651	0.6273:0.0:0.3727:0.0	.	.	.	.	X	223	.	ENSP00000444054:Y223X	Y	-	3	2	OR52E8	5834840	0.000000	0.05858	0.684000	0.30055	0.086000	0.17979	-0.126000	0.10563	0.886000	0.36113	0.448000	0.29417	TAT		0.463	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		10	25	0	0	0	1	0	10	25					C	5878264	A	C	5878264	4	2	233	1	0	0	0	0	0	1	0	0	11118	224	8	5	286	5	OR52E8	11	5878264	Nonsense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	5448484	5878264	129128252	33	28118											
LRP4	4038	broad.mit.edu	37	chr11	46893136	46893136	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctgccgcagtttcccattGaggtcagcactctcgatccg	9	15	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:46893136G>A	ENST00000378623.1	-	31	4874	c.4632C>T	c.(4630-4632)ctC>ctT	p.L1544L	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1544					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTTCCCATTGAGGTCAGCAC	0.557																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4630-4632)ctC>ctT		low density lipoprotein receptor-related protein 4							115	95	102					11																	46893136		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46893136G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4632C>T	11.37:g.46893136G>A						LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	p.L1544L	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	31	4874	-			1544					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.4632C>T	CCDS31478.1																																																																																				0.557	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		10	13	0	0	0	1	0	10	13					A	46893136	G	A	46893136	2	1	233	1	0	0	0	0	0	0	0	1	8959	1277	45	2		2	LRP4	11	46893136	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	41014872	46893136	88113380	34	28119											
OR4X2	119764	broad.mit.edu	37	chr11	48266883	48266883	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaaactcatctcagaTctgctggctgaaaggaaagt	9	12	3	2	rs190260914	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:48266883T>C	ENST00000302329.3	+	1	276	c.228T>C	c.(226-228)gaT>gaC	p.D76D		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	76						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(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATCTCAGATCTGCTGGCTG	0.512																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(226-228)gaT>gaC		olfactory receptor, family 4, subfamily X, member 2							131	128	129					11																	48266883		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266883T>C	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.228T>C	11.37:g.48266883T>C							p.D76D	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	276	+			76					B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.228T>C	CCDS31486.1																																																																																				0.512	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		4	123	0	0	0	1	0	4	123					C	48266883	T	C	48266883	2	2	233	1	0	0	0	0	0	0	0	1	11085	1432	50	3		3	OR4X2	11	48266883	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	1373747	48266883	86739633	35	28120											
ZW10	9183	broad.mit.edu	37	chr11	113614641	113614641	+	Frame_Shift_Del	DEL	T	T	-													aggaatgttggtccaatgtaTtttcaggctctaaattcatc							TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113614641delT	ENST00000200135.3	-	10	1538	c.1394delA	c.(1393-1395)aatfs	p.N465fs		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	465					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCAATGTATTTTCAGGCTC	0.418																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1393-1395)atfs		zw10 kinetochore protein							233	206	215					11																	113614641		2201	4296	6497	SO:0001589	frameshift_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113614641delT	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1394delA	11.37:g.113614641delT	ENSP00000200135:p.Asn465fs						p.N465fs	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	10	1538	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	465					A1A528	Frame_Shift_Del	DEL	ENST00000200135.3	37	c.1394delA	CCDS8363.1																																																																																				0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		64	154						64	154	---	---	---	---	-	113614641	T	-	113614641	7	5	233	1	0	1	0	1	0	0	0	0	18244	1493	52	0	973	0	ZW10	11	113614641	Frame_Shift_Del	DEL	T	TCGA-HT-7470-01A-12D-2086-08	65347758	113614641	21391875	36	28121											
HTR3B	9177	broad.mit.edu	37	chr11	113803068	113803068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgaactcatctgggacCattgagaactataagcccat	8	9	2	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113803068C>A	ENST00000260191.2	+	5	683	c.426C>A	c.(424-426)acC>acA	p.T142T	HTR3B_ENST00000537778.1_Silent_p.T131T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	142					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CATCTGGGACCATTGAGAACT	0.433																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(424-426)acC>acA		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							195	172	179					11																	113803068		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113803068C>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.426C>A	11.37:g.113803068C>A						HTR3B_ENST00000537778.1_Silent_p.T131T	p.T142T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	5	683	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	142					B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.426C>A	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617338	0.14129	.	.	ENSG00000149305	ENST00000543092	.	.	.	5.61	7.64E-4	0.14043	.	.	.	.	.	T	0.45438	0.1342	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25641	-1.0126	4	.	.	.	-15.8257	4.4422	0.11579	0.3379:0.3735:0.2204:0.0682	.	.	.	.	Q	71	.	.	P	+	2	0	HTR3B	113308278	0.510000	0.26171	0.927000	0.36925	0.919000	0.55068	0.163000	0.16520	0.021000	0.15133	0.563000	0.77884	CCA		0.433	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		15	151	1	0	2.35188e-11	1	2.59518e-11	15	151					A	113803068	C	A	113803068	2	1	233	1	0	0	0	0	0	0	0	1	7445	581	21	4		4	HTR3B	11	113803068	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	188427	113803068	21203448	37	28122											
TECTA	7007	broad.mit.edu	37	chr11	121000839	121000839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaatgagtcagagctcTgtgactctgtggcccggtat	15	9	3	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:121000839T>C	ENST00000392793.1	+	10	3131	c.2860T>C	c.(2860-2862)Tgt>Cgt	p.C954R	TECTA_ENST00000264037.2_Missense_Mutation_p.C954R			O75443	TECTA_HUMAN	tectorin alpha	954					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)		GTCAGAGCTCTGTGACTCTGT	0.602																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				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						c.(2860-2862)Tgt>Cgt		tectorin alpha							62	63	62					11																	121000839		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000839T>C	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.2860T>C	11.37:g.121000839T>C	ENSP00000376543:p.Cys954Arg					TECTA_ENST00000264037.2_Missense_Mutation_p.C954R	p.C954R			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3131	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	954						Missense_Mutation	SNP	ENST00000392793.1	37	c.2860T>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.899220	0.72754	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.94184	-3.37;-3.37	5.78	5.78	0.91487	Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99177	1.0866	10	0.87932	D	0	.	16.1141	0.81289	0.0:0.0:0.0:1.0	.	954	O75443	TECTA_HUMAN	R	954	ENSP00000376543:C954R;ENSP00000264037:C954R	ENSP00000264037:C954R	C	+	1	0	TECTA	120506049	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.440000	0.80464	2.214000	0.71695	0.528000	0.53228	TGT		0.602	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		4	108	0	0	0	1	0	4	108					C	121000839	T	C	121000839	3	2	233	1	0	0	0	0	1	0	0	0	15744	1580	55	3	2894	3	TECTA	11	121000839	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	7197771	121000839	14005677	38	28123											
SNX19	399979	broad.mit.edu	37	chr11	130750571	130750571	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctcagcagccagtttctGctcttgggtccttacgggcc	10	13	3	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:130750571G>A	ENST00000265909.4	-	9	3273	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	SNX19_ENST00000426933.2_Nonsense_Mutation_p.Q70*|SNX19_ENST00000530356.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q345*|SNX19_ENST00000545537.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000534726.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000528555.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	902					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)		GCCAGTTTCTGCTCTTGGGTC	0.517																																						ENST00000265909.4																			0				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						c.(2704-2706)Cag>Tag		sorting nexin 19							129	134	132					11																	130750571		2201	4297	6498	SO:0001587	stop_gained	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130750571G>A	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.2704C>T	11.37:g.130750571G>A	ENSP00000265909:p.Gln902*					SNX19_ENST00000528555.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q345*|SNX19_ENST00000534726.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000545537.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000426933.2_Nonsense_Mutation_p.Q70*	p.Q902*	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	9	3273	-	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)	902					E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	c.2704C>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	42	9.499604	0.99187	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	.	.	.	6.08	6.08	0.98989	.	0.115114	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-19.5778	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	902;142;142;70;282;282;345	.	ENSP00000265909:Q902X	Q	-	1	0	SNX19	130255781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.932000	0.87634	2.894000	0.99253	0.655000	0.94253	CAG		0.517	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		45	232	0	0	0	1	0	45	232					A	130750571	G	A	130750571	4	1	233	1	0	0	0	0	0	1	0	0	14890	1328	46	2	286	2	SNX19	11	130750571	Nonsense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9749732	130750571	4255945	39	28124											
HMGA2	8091	broad.mit.edu	37	chr12	66221789	66221789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacaattaggaaccaacCggtgagccctctcctaagag	8	14	2	2	rs552619480		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:66221789C>T	ENST00000403681.2	+	2	1260	c.120C>T	c.(118-120)acC>acT	p.T40T	HMGA2_ENST00000541363.1_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|RPSAP52_ENST00000489520.2_RNA|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|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 process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|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)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"																																	ENST00000541363.1				Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"		"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	0				lung(2)	2						c.(118-120)acC>acT		high mobility group AT-hook 2							79	86	83					12																	66221789		2203	4300	6503	SO:0001819	synonymous_variant	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66221789C>T	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"High-mobility group / Canonical"	5009	protein-coding gene	gene with protein product		600698	"high-mobility group (nonhistone chromosomal) protein isoform I-C"	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.120C>T	12.37:g.66221789C>T						HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T	p.T40T			P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	2	493	+	all_cancers(1;5.78e-46)		40					E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Silent	SNP	ENST00000403681.2	37	c.120C>T	CCDS44936.1																																																																																				0.448	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483		4	59	0	0	0	1	0	4	59					T	66221789	C	T	66221789	2	4	233	1	0	0	0	0	0	0	0	1	7224	639	23	1		1	HMGA2	12	66221789	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08		66221789	67630106	40	28125											
PTPRB	5787	broad.mit.edu	37	chr12	70954486	70954486	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgactttattgctgagaTctccactgtgagttaccacc	8	11	1	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:70954486T>C	ENST00000261266.5	-	15	3772	c.3743A>G	c.(3742-3744)gAt>gGt	p.D1248G	PTPRB_ENST00000334414.6_Missense_Mutation_p.D1466G|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1465G|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1158G|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1378G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1248	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTGCTGAGATCTCCACTGTG	0.512																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4396-4398)gAt>gGt		protein tyrosine phosphatase, receptor type, B							85	91	89					12																	70954486		2071	4207	6278	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954486T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3743A>G	12.37:g.70954486T>C	ENSP00000261266:p.Asp1248Gly					PTPRB_ENST00000261266.5_Missense_Mutation_p.D1248G|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1158G|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1378G|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1465G	p.D1466G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4441	-	Renal(347;0.236)		1248			Fibronectin type-III 17.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4397A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460047	0.43736	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.214384	0.46758	D	0.000273	T	0.46908	0.1417	L	0.39633	1.23	0.52501	D	0.999951	B;B;B;B;B;B;B	0.19935	0.018;0.009;0.04;0.029;0.018;0.005;0.016	B;B;B;B;B;B;B	0.27887	0.03;0.03;0.084;0.049;0.03;0.032;0.026	T	0.35674	-0.9779	10	0.26408	T	0.33	.	15.4876	0.75578	0.0:0.0:0.0:1.0	.	1158;1158;1345;1465;1466;1248;1378	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1466;1158;1378;1158;1158;1248;1465;1345	ENSP00000334928:D1466G;ENSP00000393028:D1158G;ENSP00000448058:D1378G;ENSP00000438927:D1158G;ENSP00000447302:D1158G;ENSP00000261266:D1248G;ENSP00000448349:D1465G;ENSP00000446982:D1345G	ENSP00000261266:D1248G	D	-	2	0	PTPRB	69240753	1.000000	0.71417	0.993000	0.49108	0.911000	0.54048	5.852000	0.69488	2.047000	0.60756	0.460000	0.39030	GAT		0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			9	50	0	0	0	1	0	9	50					C	70954486	T	C	70954486	3	2	233	1	0	0	0	0	1	0	0	0	12796	1435	50	3	2322	3	PTPRB	12	70954486	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	4732697	70954486	62897409	41	28126											
SHF	90525	broad.mit.edu	37	chr15	45470424	45470424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcagggaccttctcTggggctcctgaagctcctgc	10	13	3	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:45470424T>C	ENST00000560734.1	-	2	579	c.579A>G	c.(577-579)ccA>ccG	p.P193P	SHF_ENST00000561091.1_5'UTR|SHF_ENST00000560540.1_Silent_p.P193P|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000318390.6_Silent_p.P185P|SHF_ENST00000290894.8_Silent_p.P128P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560471.1_Silent_p.P193P					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGACCTTCTCTGGGGCTCCTG	0.567																																						ENST00000290894.8																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(382-384)ccA>ccG		Src homology 2 domain containing F							72	67	69					15																	45470424		2198	4298	6496	SO:0001819	synonymous_variant	90525							g.chr15:45470424T>C	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"SH2 domain containing"	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.579A>G	15.37:g.45470424T>C						SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000560734.1_Silent_p.P193P|SHF_ENST00000560471.1_Silent_p.P193P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Silent_p.P193P|SHF_ENST00000318390.6_Silent_p.P185P	p.P128P	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	3	878	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	128						Silent	SNP	ENST00000560734.1	37	c.384A>G																																																																																					0.567	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356		16	34	0	0	0	1	0	16	34					C	45470424	T	C	45470424	2	2	233	1	0	0	0	0	0	0	0	1	14277	1567	55	3		3	SHF	15	45470424	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		45470424	57060968	42	28127											
TMC3	342125	broad.mit.edu	37	chr15	81625071	81625071	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggtgaccctcaaaatcttCattccacgacttgtagtgca	7	11	3	1	rs200706433		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:81625071C>T	ENST00000359440.5	-	22	3127	c.2992G>A	c.(2992-2994)Gaa>Aaa	p.E998K	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E999K|RP11-761I4.3_ENST00000559781.1_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						TCAAAATCTTCATTCCACGAC	0.562																																						ENST00000558726.1																			0				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						c.(2995-2997)Gaa>Aaa		transmembrane channel-like 3							24	27	26					15																	81625071		1920	4126	6046	SO:0001583	missense	342125					integral to membrane		g.chr15:81625071C>T	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.2992G>A	15.37:g.81625071C>T	ENSP00000352413:p.Glu998Lys					RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E998K|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	p.E999K			Q7Z5M5	TMC3_HUMAN			22	3130	-			998						Missense_Mutation	SNP	ENST00000359440.5	37	c.2995G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685757	0.47991	.	.	ENSG00000188869	ENST00000359440	T	0.64991	-0.13	5.42	0.186	0.15105	.	0.647473	0.12441	U	0.468663	T	0.35740	0.0942	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19647	-1.0299	10	0.62326	D	0.03	-0.6231	3.8745	0.09050	0.1206:0.6019:0.1171:0.1605	.	998	Q7Z5M5	TMC3_HUMAN	K	998	ENSP00000352413:E998K	ENSP00000352413:E998K	E	-	1	0	TMC3	79412126	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.465000	0.22004	-0.225000	0.09913	0.655000	0.94253	GAA		0.562	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		7	25	0	0	0	1	0	7	25					T	81625071	C	T	81625071	3	4	233	1	0	0	0	0	1	0	0	0	15983	835	29	2	314	2	TMC3	15	81625071	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	36154647	81625071	20906321	43	28128											
RHBDF1	64285	broad.mit.edu	37	chr16	111434	111434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtacttgacgttctcGtagaccccgcggttccgcag	11	14	1	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:111434G>A	ENST00000262316.6	-	10	1486	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	RHBDF1_ENST00000454039.2_Silent_p.Y448Y	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	448					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACGTTCTCGTAGACCCCGC	0.716																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1342-1344)taC>taT		rhomboid 5 homolog 1 (Drosophila)							21	21	21					16																	111434		2202	4298	6500	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:111434G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1344C>T	16.37:g.111434G>A						RHBDF1_ENST00000454039.2_Silent_p.Y448Y	p.Y448Y	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			10	1486	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	448					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.1344C>T	CCDS32344.1																																																																																				0.716	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		4	40	0	0	0	1	0	4	40					A	111434	G	A	111434	2	1	233	1	0	0	0	0	0	0	0	1	13319	1140	40	1		1	RHBDF1	16	111434	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		111434	90243319	44	28129											
PRSS22	64063	broad.mit.edu	37	chr16	2906139	2906139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagcagagaacctgcGcagtggtgggtcccattctt	14	10	1	2	rs200127582		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:2906139G>A	ENST00000161006.3	-	3	290	c.225C>T	c.(223-225)tgC>tgT	p.C75C	PRSS22_ENST00000571228.1_Silent_p.C75C|PRSS22_ENST00000574768.1_5'UTR|LA16c-325D7.1_ENST00000577140.1_RNA	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGAACCTGCGCAGTGGTGGG	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		15163	0.0		0.001	False		,,,				2504	0.0					ENST00000161006.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(223-225)tgC>tgT		protease, serine, 22							72	70	71					16																	2906139		2198	4300	6498	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2906139G>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.225C>T	16.37:g.2906139G>A						PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Silent_p.C75C	p.C75C	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			3	290	-			75			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.225C>T	CCDS10481.1																																																																																				0.617	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		14	81	0	0	0	1	0	14	81					A	2906139	G	A	2906139	2	1	233	1	0	0	0	0	0	0	0	1	12619	1079	38	1		1	PRSS22	16	2906139	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	2794705	2906139	87448614	45	28130											
ERCC4	2072	broad.mit.edu	37	chr16	14031642	14031642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttactttcttatatacGgaggttcaactgaggaacaa	10	6	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:14031642G>A	ENST00000311895.7	+	9	1840	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	611			Missing (in XP-F). {ECO:0000269|PubMed:9580660}.		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						TCTTATATACGGAGGTTCAAC	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1831-1833)Gga>Aga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							92	90	91					16																	14031642		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14031642G>A	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.1831G>A	16.37:g.14031642G>A	ENSP00000310520:p.Gly611Arg						p.G611R	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			9	1840	+			611		Missing (in XP-F).			A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1831G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492646	0.84962	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.65364	-0.15	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.73313	-0.4022	10	0.41790	T	0.15	-32.9694	17.8015	0.88589	0.0:0.0:1.0:0.0	.	611	Q92889	XPF_HUMAN	R	611;599	ENSP00000310520:G611R	ENSP00000310520:G611R	G	+	1	0	ERCC4	13939143	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	8.500000	0.90498	2.640000	0.89533	0.655000	0.94253	GGA		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		18	45	0	0	0	1	0	18	45					A	14031642	G	A	14031642	3	1	233	1	0	0	0	0	1	0	0	0	5215	1117	39	1	1865	1	ERCC4	16	14031642	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	11125503	14031642	76323111	46	28131											
ANKRD11	29123	broad.mit.edu	37	chr16	89348104	89348104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttgagcttggggtctcCggaccggtgcctcagcttct	12	14	3	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:89348104C>T	ENST00000301030.4	-	9	5306	c.4846G>A	c.(4846-4848)Gga>Aga	p.G1616R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1616R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1616	Lys-rich.				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)		TTGGGGTCTCCGGACCGGTGC	0.607																																						ENST00000301030.4																			0				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						c.(4846-4848)Gga>Aga		ankyrin repeat domain 11							84	87	86					16																	89348104		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348104C>T	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.4846G>A	16.37:g.89348104C>T	ENSP00000301030:p.Gly1616Arg					ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1616R	p.G1616R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	5306	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1616			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4846G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320637	0.60634	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42900	0.96;0.96	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.51553	-0.8691	10	0.36615	T	0.2	.	18.0337	0.89292	0.0:1.0:0.0:0.0	.	1616	Q6UB99	ANR11_HUMAN	R	1616	ENSP00000301030:G1616R;ENSP00000367581:G1616R	ENSP00000301030:G1616R	G	-	1	0	ANKRD11	87875605	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	7.198000	0.77823	2.349000	0.79799	0.455000	0.32223	GGA		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		21	87	0	0	0	1	0	21	87					T	89348104	C	T	89348104	3	4	233	1	0	0	0	0	1	0	0	0	639	661	23	1	3165	1	ANKRD11	16	89348104	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	75316462	89348104	1006649	47	28132											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	11	0	0	0	1	0	27	11					A	7577121	G	A	7577121	3	1	233	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		7577121	73618089	48	28133											
MYO19	80179	broad.mit.edu	37	chr17	34866651	34866651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcgggcgcagggcttcCggaacacctgctgctgtctg	15	14	1	0	rs532960922		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:34866651C>T	ENST00000431794.3	-	13	1613	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MYO19_ENST00000268852.9_Missense_Mutation_p.R364Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	364	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGGCTTCCGGAACACCTG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18796	0.0		0.0	False		,,,				2504	0.0					ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1090-1092)cGg>cAg		myosin XIX							31	37	35					17																	34866651		2057	4183	6240	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34866651C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1091G>A	17.37:g.34866651C>T	ENSP00000409936:p.Arg364Gln					MYO19_ENST00000268852.9_Missense_Mutation_p.R364Q	p.R364Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	13	1613	-		Breast(25;0.00957)|Ovarian(249;0.17)	364			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1091G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888181	0.33348	.	.	ENSG00000141140	ENST00000415126;ENST00000431794;ENST00000268852	D;D	0.86956	-2.19;-2.19	5.88	-0.966	0.10320	Myosin head, motor domain (2);	0.624634	0.13015	N	0.420564	T	0.70439	0.3224	N	0.12887	0.27	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.50197	-0.8856	10	0.18710	T	0.47	.	6.9286	0.24429	0.0:0.3373:0.1329:0.5298	.	364;364	Q96H55;Q96H55-4	MYO19_HUMAN;.	Q	99;364;364	ENSP00000409936:R364Q;ENSP00000268852:R364Q	ENSP00000268852:R364Q	R	-	2	0	MYO19	31940764	0.910000	0.30920	0.993000	0.49108	0.966000	0.64601	-0.003000	0.12901	-0.368000	0.08040	-0.137000	0.14449	CGG		0.627	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		6	10	0	0	0	1	0	6	10					T	34866651	C	T	34866651	3	4	233	1	0	0	0	0	1	0	0	0	10067	652	23	1	1877	1	MYO19	17	34866651	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	27289530	34866651	46328559	49	28134											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					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.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	166	0	0	0	1	0	6	166					A	12575498	G	A	12575498	3	1	233	1	0	0	0	0	1	0	0	0	18110	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		12575498	46553485	50	28135											
GCDH	2639	broad.mit.edu	37	chr19	13006897	13006897	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagagcccactacaactcAtccaacaagagctacaccct	4	17	1	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:13006897A>G	ENST00000222214.5	+	7	808	c.597A>G	c.(595-597)tcA>tcG	p.S199S	GCDH_ENST00000457854.1_Silent_p.S199S|GCDH_ENST00000422947.2_Silent_p.S155S|GCDH_ENST00000591470.1_Silent_p.S199S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	199					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	ACTACAACTCATCCAACAAGA	0.612																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(595-597)tcA>tcG		glutaryl-CoA dehydrogenase							139	124	129					19																	13006897		2203	4300	6503	SO:0001819	synonymous_variant	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13006897A>G	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.597A>G	19.37:g.13006897A>G						GCDH_ENST00000591470.1_Silent_p.S199S|GCDH_ENST00000457854.1_Silent_p.S199S|GCDH_ENST00000422947.2_Silent_p.S155S	p.S199S			Q92947	GCDH_HUMAN			7	808	+			199					A8K2Z2|O14719	Silent	SNP	ENST00000222214.5	37	c.597A>G	CCDS12286.1																																																																																				0.612	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			4	115	0	0	0	1	0	4	115					G	13006897	A	G	13006897	2	3	233	1	0	0	0	0	0	0	0	1	6287	204	8	3		3	GCDH	19	13006897	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08	431399	13006897	46122086	51	28136											
ZNF99	7652	broad.mit.edu	37	chr19	22939400	22939400	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaggattgcttaaaaGctttgccacattcttcacat	9	8	2	1	rs561180336		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:22939400G>C	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.A924G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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)|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)				TTGCTTAAAAGCTTTGCCACA	0.368																																						ENST00000397104.3																			0				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						c.(2770-2772)gCt>gGt		zinc finger protein 99							37	50	46					19																	22939400		1990	4259	6249	SO:0001628	intergenic_variant	7652							g.chr19:22939400G>C	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			19.37:g.22939400G>C							p.A924G							7	2770	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2771C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.32	1.902513	0.33628	.	.	ENSG00000213973	ENST00000397104	T	0.01043	5.41	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	.	.	.	0.09310	N	1	B	0.34103	0.437	B	0.43251	0.413	T	0.46289	-0.9202	8	0.66056	D	0.02	.	6.7624	0.23548	0.0:0.528:0.472:0.0	.	924	A8MXY4	ZNF99_HUMAN	G	924	ENSP00000380293:A924G	ENSP00000380293:A924G	A	-	2	0	ZNF99	22731240	0.000000	0.05858	0.004000	0.12327	0.157000	0.22087	-4.529000	0.00220	0.663000	0.31027	0.380000	0.24917	GCT		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	65	0	0	0	1	0	3	65					C	22939400	G	C	22939400	1	2	233	0	1	0	0	0	0	0	0	0	18201	971	34	4		4	ZNF99	19	22939400	IGR	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9932503	22939400	36189583	52	28137											
FCGBP	8857	broad.mit.edu	37	chr19	40357728	40357728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacaggaacagcgctcGctgcagtctgaggtcagcag	15	10	2	1	rs370196020		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:40357728G>A	ENST00000221347.6	-	34	15592	c.15585C>T	c.(15583-15585)agC>agT	p.S5195S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5195	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)			AACAGCGCTCGCTGCAGTCTG	0.587																																						ENST00000221347.6																			0				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						c.(15583-15585)agC>agT		Fc fragment of IgG binding protein		G		0,4406		0,0,2203	60	52	55		15585	-5.7	0	19		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		5195/5406	40357728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357728G>A	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.15585C>T	19.37:g.40357728G>A							p.S5195S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15592	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5195			Cys-rich.		O95784	Silent	SNP	ENST00000221347.6	37	c.15585C>T	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		11	33	0	0	0	1	0	11	33					A	40357728	G	A	40357728	2	1	233	1	0	0	0	0	0	0	0	1	5778	1078	38	1		1	FCGBP	19	40357728	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	17418328	40357728	18771255	53	28138											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42804340	42804340	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caccttgggccggatgtgttCcagctccccattctccagcc	9	17	1	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:42804340C>G	ENST00000262890.3	-	3	529	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.E90Q	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	90					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CGGATGTGTTCCAGCTCCCCA	0.562																																						ENST00000538771.1																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(268-270)Gaa>Caa		platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)							70	67	68					19																	42804340		2203	4300	6503	SO:0001583	missense	5050				lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding	g.chr19:42804340C>G	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.268G>C	19.37:g.42804340C>G	ENSP00000262890:p.Glu90Gln					PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.E90Q	p.E90Q	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN			4	624	-		Prostate(69;0.0704)	90					Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	c.268G>C	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275788	0.59649	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.44083	0.93;0.93	5.03	5.03	0.67393	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.053371	0.64402	D	0.000001	T	0.43166	0.1235	M	0.66297	2.02	0.49483	D	0.999791	B	0.22851	0.076	B	0.20577	0.03	T	0.29640	-1.0005	10	0.31617	T	0.26	-12.1763	15.8993	0.79359	0.0:1.0:0.0:0.0	.	90	Q15102	PA1B3_HUMAN	Q	90	ENSP00000444935:E90Q;ENSP00000262890:E90Q	ENSP00000262890:E90Q	E	-	1	0	PAFAH1B3	47496180	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.473000	0.60196	2.605000	0.88082	0.467000	0.42956	GAA		0.562	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	NM_002573		4	76	0	0	0	1	0	4	76					G	42804340	C	G	42804340	3	3	233	1	0	0	0	0	1	0	0	0	11386	864	30	4	439	4	PAFAH1B3	19	42804340	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	2446612	42804340	16324643	54	28139											
PPP1R12C	54776	broad.mit.edu	37	chr19	55605714	55605714	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accccagcccaccccacaccTgtgtggacctccgagactgg	9	19	0	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:55605714T>G	ENST00000263433.3	-	13	1697	c.1682A>C	c.(1681-1683)cAg>cCg	p.Q561P	PPP1R12C_ENST00000435544.2_Splice_Site_p.Q487P|PPP1R12C_ENST00000376393.2_Splice_Site_p.Q561P	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCCCACACCTGTGTGGACCT	0.657																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.e13+1		protein phosphatase 1, regulatory subunit 12C							65	66	65					19																	55605714		2203	4300	6503	SO:0001630	splice_region_variant	54776					cytoplasm		g.chr19:55605714T>G	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1683+1A>C	19.37:g.55605714T>G						PPP1R12C_ENST00000435544.2_Splice_Site_p.Q487_splice|PPP1R12C_ENST00000376393.2_Splice_Site_p.Q561_splice	p.Q561_splice	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	13	1697	-			561						Splice_Site	SNP	ENST00000263433.3	37	c.1683_splice	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389150	0.61956	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	D;T;D	0.86432	-1.93;-0.74;-2.12	4.79	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.75615	2.305	0.44162	D	0.99696	D;D;D	0.76494	0.999;0.981;0.999	D;D;D	0.76071	0.942;0.987;0.981	D	0.91475	0.5200	10	0.72032	D	0.01	.	8.7865	0.34823	0.169:0.0:0.0:0.831	.	487;560;561	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	P	561;561;487	ENSP00000263433:Q561P;ENSP00000365573:Q561P;ENSP00000387833:Q487P	ENSP00000263433:Q561P	Q	-	2	0	PPP1R12C	60297526	1.000000	0.71417	0.995000	0.50966	0.644000	0.38419	6.499000	0.73683	1.935000	0.56089	0.459000	0.35465	CAG		0.657	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	Missense_Mutation	20	102	0	0	0	1	0	20	102					G	55605714	T	G	55605714	5	3	233	1	0	0	0	0	0	0	1	0	12356	1594	55	5	706	5	PPP1R12C	19	55605714	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	12801374	55605714	3523269	55	28140											
TMC2	117532	broad.mit.edu	37	chr20	2592978	2592978	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgctgggagacagctGtgggcattgtgagtagttac	15	6	1	2	rs138720906		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:2592978G>C	ENST00000358864.1	+	13	1750	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	579					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAGACAGCTGTGGGCATTGT	0.488																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1735-1737)Gtg>Ctg		transmembrane channel-like 2							79	80	80					20																	2592978		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2592978G>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1735G>C	20.37:g.2592978G>C	ENSP00000351732:p.Val579Leu					TMC2_ENST00000496948.1_3'UTR	p.V579L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			13	1750	+			579					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1735G>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876382	0.91664	.	.	ENSG00000149488	ENST00000358864	T	0.67865	-0.29	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	T	0.78401	-0.2218	10	0.59425	D	0.04	-24.8455	17.5958	0.88011	0.0:0.0:1.0:0.0	.	410;411;579;579	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	L	579	ENSP00000351732:V579L	ENSP00000351732:V579L	V	+	1	0	TMC2	2540978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.768000	0.98965	2.836000	0.97738	0.655000	0.94253	GTG		0.488	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			8	126	0	0	0	1	0	8	126					C	2592978	G	C	2592978	3	2	233	1	0	0	0	0	1	0	0	0	15982	1377	48	4	1785	4	TMC2	20	2592978	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		2592978	60432542	56	28141											
LAMA5	3911	broad.mit.edu	37	chr20	60886842	60886843	+	Splice_Site	INS	-	-	G													tcgacatacagccagactctINSggggggcgggaggccggagg							TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:60886842_60886843insG	ENST00000252999.3	-	71	9702		c.e71-2		LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCCAGACTCTGGGGGGCGGGA	0.698																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.e71-2		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001630	splice_region_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60886842_60886843insG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9636-2->C	20.37:g.60886848_60886848dupG								NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		71	9702	-	Breast(26;1.57e-08)							Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	INS	ENST00000252999.3	37		CCDS33502.1																																																																																				0.698	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Intron	5	6						5	6	---	---	---	---	G	60886843	-	G	60886842	8	5	233	1	0	1	1	0	0	0	1	0	8609	1594	55	0	1493	0	LAMA5	20	60886842	Splice_Site	INS	-	TCGA-HT-7470-01A-12D-2086-08	58293864	60886842	2138678	57	28142											
PARVB	29780	broad.mit.edu	37	chr22	44532367	44532367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctgctgcattccagcCacatctcggaggagctgacc	11	14	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr22:44532367C>G	ENST00000338758.7	+	7	724	c.661C>G	c.(661-663)Cac>Gac	p.H221D	PARVB_ENST00000406477.3_Missense_Mutation_p.H254D|PARVB_ENST00000404989.1_Missense_Mutation_p.H184D	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	221					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCATTCCAGCCACATCTCGGA	0.557																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(661-663)Cac>Gac		parvin, beta							95	83	87					22																	44532367		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44532367C>G	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.661C>G	22.37:g.44532367C>G	ENSP00000342492:p.His221Asp					PARVB_ENST00000404989.1_Missense_Mutation_p.H184D|PARVB_ENST00000406477.3_Missense_Mutation_p.H254D	p.H221D	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			7	724	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	221					B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.661C>G	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945888	0.34377	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.29917	1.55;1.58;1.58	4.63	3.53	0.40419	Calponin homology domain (1);	0.289027	0.37393	N	0.002101	T	0.30727	0.0774	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.32160	0.358;0.147;0.243;0.356	B;B;B;B	0.36922	0.093;0.063;0.09;0.236	T	0.16217	-1.0410	10	0.44086	T	0.13	-22.7564	12.1906	0.54268	0.1713:0.8287:0.0:0.0	.	221;184;221;254	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	D	254;221;184	ENSP00000384515:H254D;ENSP00000342492:H221D;ENSP00000384353:H184D	ENSP00000342492:H221D	H	+	1	0	PARVB	42863700	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.956000	0.49129	2.137000	0.66172	0.655000	0.94253	CAC		0.557	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		4	122	0	0	0	1	0	4	122					G	44532367	C	G	44532367	3	3	233	1	0	0	0	0	1	0	0	0	11469	594	21	4	906	4	PARVB	22	44532367	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		44532367	6772199	58	28143											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	72	0	0	0	1	0	3	72					G	37028425	A	G	37028425	3	3	233	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		37028425	118242135	59	28144											
AKAP4	8852	broad.mit.edu	37	chrX	49958837	49958837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgctgtcatttctagaCgtaggttttgaggtctgttc	11	7	3	2	rs201625510		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:49958837C>T	ENST00000376056.2	-	5	650	c.500G>A	c.(499-501)cGt>cAt	p.R167H	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167H|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176H					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTCTAGACGTAGGTTTTG	0.443													C|||	1	0.000264901	0.0	0.0	3775	,	,		15508	0.001		0.0	False		,,,				2504	0.0					ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(499-501)cGt>cAt		A kinase (PRKA) anchor protein 4							275	238	251					X																	49958837		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958837C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.500G>A	X.37:g.49958837C>T	ENSP00000365224:p.Arg167His					AKAP4_ENST00000376064.3_Missense_Mutation_p.R167H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176H|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167H	p.R167H			Q5JQC9	AKAP4_HUMAN			5	650	-	Ovarian(276;0.236)		176						Missense_Mutation	SNP	ENST00000376056.2	37	c.500G>A	CCDS14330.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	0.084	-1.178324	0.01633	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.43294	2.82;1.51;2.82;2.82;0.95;1.61	4.7	-1.35	0.09114	.	0.376759	0.19421	N	0.114692	T	0.19005	0.0456	N	0.11255	0.115	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.19353	-1.0308	9	.	.	.	-1.0483	9.0844	0.36572	0.0:0.4497:0.0:0.5503	.	176;167	Q5JQC9;A6ND82	AKAP4_HUMAN;.	H	167;167;176;167;167;167	ENSP00000365224:R167H;ENSP00000365226:R167H;ENSP00000351327:R176H;ENSP00000365232:R167H;ENSP00000402403:R167H;ENSP00000412279:R167H	.	R	-	2	0	AKAP4	49845577	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.360000	0.01084	-1.012000	0.03387	-1.854000	0.00565	CGT		0.443	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		44	51	0	0	0	1	0	44	51					T	49958837	C	T	49958837	3	4	233	1	0	0	0	0	1	0	0	0	453	536	19	1	2045	1	AKAP4	23	49958837	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12930412	49958837	105311723	60	28145											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	5						5	5	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	233	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-HT-7470-01A-12D-2086-08	1280459	51239296	104031264	61	28146											
ATRX	546	broad.mit.edu	37	chrX	76874329	76874330	+	Frame_Shift_Ins	INS	-	-	T													agcacgttttttcatcactcINStgacatctaccatggtagaa							TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:76874329_76874330insT	ENST00000373344.5	-	21	5606_5607	c.5392_5393insA	c.(5392-5394)agafs	p.R1798fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1760fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1798					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						TTTCATCACTCTGACATCTACC	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5392-5394)agtfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874329_76874330insT	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.5393dupA	X.37:g.76874330_76874330dupT	ENSP00000362441:p.Arg1798fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S1760fs|ATRX_ENST00000480283.1_5'UTR	p.S1798fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5606_5607	-			1798					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.5392_5393insA	CCDS14434.1																																																																																				0.322	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		82	51						82	51	---	---	---	---	T	76874330	-	T	76874329	7	5	233	1	0	1	1	0	0	0	0	0	1208	913	32	0	2145	0	ATRX	23	76874329	Frame_Shift_Ins	INS	-	TCGA-HT-7470-01A-12D-2086-08	25635033	76874329	78396231	62	28147											
FUBP1	8880	broad.mit.edu	37	chr1	78430773	78430773	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaagctgtttaatagtttCtcccccttttccaatgacta	5	11	1	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:78430773C>A	ENST00000370768.2	-	8	697	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	206	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTAATAGTTTCTCCCCCTTTT	0.393			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(616-618)Gaa>Taa		far upstream element (FUSE) binding protein 1							182	183	183					1																	78430773		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430773C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.616G>T	1.37:g.78430773C>A	ENSP00000359804:p.Glu206*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227*	p.E206*			Q96AE4	FUBP1_HUMAN			8	703	-			206			KH 2.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.616G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629714	0.87660	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.9192	19.9468	0.97185	0.0:1.0:0.0:0.0	.	.	.	.	X	205;206;206;205;227;226	.	ENSP00000294623:E205X	E	-	1	0	FUBP1	78203361	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.776000	0.85560	2.784000	0.95788	0.650000	0.86243	GAA		0.393	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		105	29	1	0	3.41453e-61	1	3.69138e-61	105	29					A	78430773	C	A	78430773	4	1	234	1	0	0	0	0	0	1	0	0	6092	922	32	4	1370	4	FUBP1	1	78430773	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78430773	170819848	1	28148											
KIAA1324	57535	broad.mit.edu	37	chr1	109707134	109707134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagccttctcctgcaaCgccggggagtttctggatat	10	12	2	0	rs144842352		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:109707134C>T	ENST00000369939.3	+	3	471	c.288C>T	c.(286-288)aaC>aaT	p.N96N	KIAA1324_ENST00000529753.1_Silent_p.N96N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	96					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)		TCTCCTGCAACGCCGGGGAGT	0.592																																						ENST00000369939.3																			0				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						c.(286-288)aaC>aaT		KIAA1324		C		1,4405	2.1+/-5.4	0,1,2202	109	108	108		288	-7.5	0.9	1	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	KIAA1324	NM_020775.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		96/1014	109707134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109707134C>T	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.288C>T	1.37:g.109707134C>T						KIAA1324_ENST00000529753.1_Silent_p.N96N	p.N96N	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	3	471	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	96					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	c.288C>T	CCDS794.1																																																																																				0.592	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		76	18	0	0	0	1	0	76	18					T	109707134	C	T	109707134	2	4	234	1	0	0	0	0	0	0	0	1	8223	535	19	1		1	KIAA1324	1	109707134	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	31276361	109707134	139543487	2	28149											
ADCY10	55811	broad.mit.edu	37	chr1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttacctatcttgactcGgatgtctaggccttcttccc	7	13	3	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:167870912G>A	ENST00000367851.4	-	5	608	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Nonsense_Mutation_p.R50*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	142	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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						ATCTTGACTCGGATGTCTAGG	0.463																																						ENST00000367848.1																			0				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						c.(148-150)Cga>Tga		adenylate cyclase 10 (soluble)							170	164	166					1																	167870912		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167870912G>A	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.424C>T	1.37:g.167870912G>A	ENSP00000356825:p.Arg142*					ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*|ADCY10_ENST00000545172.1_Intron	p.R50*			Q96PN6	ADCYA_HUMAN			5	645	-			142			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.148C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613178	0.87359	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	.	.	.	5.76	3.84	0.44239	.	0.270367	0.26983	N	0.021504	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6457	9.3555	0.38164	0.0:0.1576:0.6786:0.1638	.	.	.	.	X	142;50	.	ENSP00000356822:R50X	R	-	1	2	ADCY10	166137536	0.994000	0.37717	0.106000	0.21319	0.087000	0.18053	2.743000	0.47442	0.734000	0.32515	-0.323000	0.08544	CGA		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		76	84	0	0	0	1	0	76	84					A	167870912	G	A	167870912	4	1	234	1	0	0	0	0	0	1	0	0	293	1124	39	1	4524	1	ADCY10	1	167870912	Nonsense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	58163778	167870912	81379709	3	28150											
CACNA1E	777	broad.mit.edu	37	chr1	181765891	181765891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctcctgatgtctcccGctgcaattcagaagagcgag	9	13	4	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:181765891G>A	ENST00000367573.2	+	47	6296	c.6296G>A	c.(6295-6297)cGc>cAc	p.R2099H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2037H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2099					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						GATGTCTCCCGCTGCAATTCA	0.602																																						ENST00000526775.1																			0				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						c.(6109-6111)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							36	39	38					1																	181765891		1969	4166	6135	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181765891G>A	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.6296G>A	1.37:g.181765891G>A	ENSP00000356545:p.Arg2099His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2099H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H	p.R2037H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			45	6275	+			2099					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6110G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659027	0.96734	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99158	-5.33;-5.31;-4.67;-5.3;-5.5;-4.67;-4.67	5.91	5.91	0.95273	.	0.000000	0.50627	D	0.000113	D	0.98842	0.9609	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.984;0.996	D	0.99924	1.1272	10	0.62326	D	0.03	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	2037;2056	Q15878-2;Q15878-3	.;.	H	2056;2037;2050;1988;1663;2080;2099	ENSP00000356542:R2056H;ENSP00000434814:R2037H;ENSP00000350183:R2050H;ENSP00000351101:R1988H;ENSP00000356539:R1663H;ENSP00000353222:R2080H;ENSP00000356545:R2099H	ENSP00000350183:R2050H	R	+	2	0	CACNA1E	180032514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.050000	0.93843	2.793000	0.96121	0.655000	0.94253	CGC		0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	15	0	0	0	1	0	3	15					A	181765891	G	A	181765891	3	1	234	1	0	0	0	0	1	0	0	0	2542	1087	38	1	6349	1	CACNA1E	1	181765891	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	13894979	181765891	67484730	4	28151											
FMN2	56776	broad.mit.edu	37	chr1	240371421	240371421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccCggagtgggcatacctcctcc	7	23	1	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				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)	p.P1246P(2)		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)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	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						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	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.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	182	0	0	0	1	0	5	182					T	240371421	C	T	240371421	2	4	234	1	0	0	0	0	0	0	0	1	5950	639	23	1		1	FMN2	1	240371421	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	58605530	240371421	8879200	5	28152											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	54	0	0	0	1	0	42	54					T	209113112	C	T	209113112	3	4	234	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		209113112	34086261	6	28153											
STAB1	23166	broad.mit.edu	37	chr3	52552602	52552602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccatcttcgtgccgcaCgcagatctaatgagcaacct	7	14	3	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr3:52552602C>T	ENST00000321725.6	+	47	4936	c.4860C>T	c.(4858-4860)caC>caT	p.H1620H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1620	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)		TCGTGCCGCACGCAGATCTAA	0.627																																						ENST00000321725.6																			0				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						c.(4858-4860)caC>caT		stabilin 1							43	34	37					3																	52552602		2199	4295	6494	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52552602C>T	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.4860C>T	3.37:g.52552602C>T							p.H1620H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	47	4936	+			1620			FAS1 5.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4860C>T	CCDS33768.1																																																																																				0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	7	0	0	0	1	0	4	7					T	52552602	C	T	52552602	2	4	234	1	0	0	0	0	0	0	0	1	15236	535	19	1		1	STAB1	3	52552602	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		52552602	145469828	7	28154											
SLC6A3	6531	broad.mit.edu	37	chr5	1409836	1409836	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccggcgatggtacgtacGttggtgacgcagaacaggga	16	8	0	2	rs2270912	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr5:1409836G>A	ENST00000270349.9	-	10	1525	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SLC6A3_ENST00000453492.2_Splice_Site_p.N466N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	466					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGTACGTACGTTGGTGACGC	0.617													G|||	23	0.00459265	0.0061	0.0043	5008	,	,		22372	0.0089		0.0	False		,,,				2504	0.0031					ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e10+1		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G		20,4386	27.2+/-55.0	0,20,2183	192	142	159		1398	-3.6	0.5	5	dbSNP_100	159	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice	SLC6A3	NM_001044.4		0,21,6481	AA,AG,GG		0.0116,0.4539,0.1615		466/621	1409836	21,12983	2203	4299	6502	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409836G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1398+1C>T	5.37:g.1409836G>A						SLC6A3_ENST00000453492.2_Splice_Site_p.N466_splice	p.N466_splice	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		10	1525	-			466					A2RUN4|Q14996	Splice_Site	SNP	ENST00000270349.9	37	c.1398_splice	CCDS3863.1																																																																																				0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Silent	34	44	0	0	0	1	0	34	44					A	1409836	G	A	1409836	5	1	234	1	0	0	0	0	0	0	1	0	14685	1159	40	1	488	1	SLC6A3	5	1409836	Splice_Site	SNP	G	TCGA-HT-7471-01A-11D-2253-08		1409836	179505424	8	28155											
GCM1	8521	broad.mit.edu	37	chr6	52993190	52993190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtatgcaggagactggacGtagctgttaaaatccacatg	12	7	0	1	rs575787885		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr6:52993190G>A	ENST00000259803.7	-	6	1336	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	375					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAGACTGGACGTAGCTGTTAA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18521	0.0		0.0	False		,,,				2504	0.001					ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(1123-1125)taC>taT		glial cells missing homolog 1 (Drosophila)							182	182	182					6																	52993190		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993190G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"glial cells missing (Drosophila) homolog a"	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1125C>T	6.37:g.52993190G>A							p.Y375Y	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	1336	-	Lung NSC(77;0.0755)		375					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.1125C>T	CCDS4950.1																																																																																				0.483	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			5	186	0	0	0	1	0	5	186					A	52993190	G	A	52993190	2	1	234	1	0	0	0	0	0	0	0	1	6297	1140	40	1		1	GCM1	6	52993190	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		52993190	118121877	9	28156											
TTYH3	80727	broad.mit.edu	37	chr7	2698612	2698612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacccccgctgtgagaAcaccccactcattgggcgcg	10	17	1	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:2698612A>G	ENST00000258796.7	+	13	1668	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S|TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	488					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCTGTGAGAACACCCCACTC	0.642																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1462-1464)aAc>aGc		tweety family member 3							136	130	132					7																	2698612		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2698612A>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1463A>G	7.37:g.2698612A>G	ENSP00000258796:p.Asn488Ser					TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S|TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S	p.N488S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	13	1668	+		Ovarian(82;0.0112)	488					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.1463A>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390116	0.82902	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167;ENST00000429448	T;T;T;T	0.37235	1.21;1.21;1.21;1.71	4.11	4.11	0.48088	.	0.000000	0.85682	U	0.000000	T	0.52041	0.1710	L	0.54323	1.7	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.80764	0.994;0.994	T	0.46978	-0.9152	10	0.30078	T	0.28	.	13.409	0.60931	1.0:0.0:0.0:0.0	.	317;488	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	S	488;456;317;148	ENSP00000258796:N488S;ENSP00000385316:N456S;ENSP00000385015:N317S;ENSP00000413757:N148S	ENSP00000258796:N488S	N	+	2	0	TTYH3	2665138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.744000	0.68664	1.631000	0.50456	0.379000	0.24179	AAC		0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		95	131	0	0	0	1	0	95	131					G	2698612	A	G	2698612	3	3	234	1	0	0	0	0	1	0	0	0	16738	43	2	3	1513	3	TTYH3	7	2698612	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		2698612	156440051	10	28157											
C7orf42	55069	broad.mit.edu	37	chr7	66416082	66416082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggggccattggaaaagtctAtcatgctttaaatcccaagc	10	9	2	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:66416082A>G	ENST00000341567.4	+	5	995	c.740A>G	c.(739-741)tAt>tGt	p.Y247C		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	247						integral component of membrane (GO:0016021)											GGAAAAGTCTATCATGCTTTA	0.428																																						ENST00000341567.4																			0											c.(739-741)tAt>tGt		transmembrane protein 248							112	105	107					7																	66416082		2203	4300	6503	SO:0001583	missense	55069							g.chr7:66416082A>G		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.740A>G	7.37:g.66416082A>G	ENSP00000340668:p.Tyr247Cys						p.Y247C	NM_017994.4	NP_060464.1					5	995	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.740A>G	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455030	0.84209	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.69892	-0.5022	9	0.72032	D	0.01	-11.6184	15.5232	0.75881	1.0:0.0:0.0:0.0	.	247	Q9NWD8	CG042_HUMAN	C	247	.	ENSP00000340668:Y247C	Y	+	2	0	C7orf42	66053517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.833000	0.92089	2.317000	0.78254	0.460000	0.39030	TAT		0.428	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		34	56	0	0	0	1	0	34	56					G	66416082	A	G	66416082	3	3	234	1	0	0	0	0	1	0	0	0	2392	449	16	3	754	3	C7orf42	7	66416082	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	63717470	66416082	92722581	11	28158											
MET	4233	broad.mit.edu	37	chr7	116436092	116436092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaacgtaaaatgtgtcGctccgtatccttctctgttg	9	9	1	1	rs45578433	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:116436092G>A	ENST00000318493.6	+	21	4328	c.4141G>A	c.(4141-4143)Gct>Act	p.A1381T	MET_ENST00000397752.3_Missense_Mutation_p.A1363T|MET_ENST00000539704.1_Missense_Mutation_p.A233T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAAATGTGTCGCTCCGTATCC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				G|||	6	0.00119808	0.0	0.0	5008	,	,		19634	0.005		0.0	False		,,,				2504	0.001					ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(4087-4089)Gct>Act		met proto-oncogene							191	173	179					7																	116436092		2011	4190	6201	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116436092G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4141G>A	7.37:g.116436092G>A	ENSP00000317272:p.Ala1381Thr					MET_ENST00000539704.1_Missense_Mutation_p.A233T|MET_ENST00000318493.6_Missense_Mutation_p.A1381T	p.A1363T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4287	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1363			Interaction with RANBP9.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.4087G>A	CCDS47689.1	6	0.0027472527472527475	0	0.0	0	0.0	4	0.006993006993006993	2	0.002638522427440633	G	12.47	1.946470	0.34377	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.76968	-0.73;-0.73;-1.06	5.72	4.83	0.62350	.	0.196194	0.53938	D	0.000049	T	0.63861	0.2547	L	0.55481	1.735	0.39657	D	0.970559	B;P	0.52692	0.416;0.955	B;B	0.37989	0.062;0.262	T	0.69105	-0.5233	10	0.20046	T	0.44	.	16.4055	0.83662	0.0:0.0:0.8673:0.1327	rs45578433	1381;1363	P08581-2;P08581	.;MET_HUMAN	T	1363;1381;233	ENSP00000380860:A1363T;ENSP00000317272:A1381T;ENSP00000445020:A233T	ENSP00000317272:A1381T	A	+	1	0	MET	116223328	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	3.828000	0.55753	1.529000	0.49120	0.655000	0.94253	GCT		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			4	183	0	0	0	1	0	4	183					A	116436092	G	A	116436092	3	1	234	1	0	0	0	0	1	0	0	0	9485	1087	38	1	4219	1	MET	7	116436092	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	50020010	116436092	42702571	12	28159											
MYO3A	53904	broad.mit.edu	37	chr10	26500833	26500833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccagcagccaacccctacGacttcaggaggctcctgcgc	10	17	1	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:26500833G>A	ENST00000265944.5	+	35	4958	c.4792G>A	c.(4792-4794)Gac>Aac	p.D1598N	MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1598					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAACCCCTACGACTTCAGGAG	0.652																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4792-4794)Gac>Aac		myosin IIIA							46	54	52					10																	26500833		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500833G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4792G>A	10.37:g.26500833G>A	ENSP00000265944:p.Asp1598Asn					MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q	p.D1598N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			35	4958	+			1598					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4792G>A	CCDS7148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.047550|4.047550	0.75846|0.75846	.|.	.|.	ENSG00000095777|ENSG00000095777	ENST00000265944|ENST00000543632	D|T	0.83914|0.75704	-1.78|-0.96	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81211|0.81211	0.4775|0.4775	L|L	0.36672|0.36672	1.1|1.1	0.35295|0.35295	D|D	0.782547|0.782547	D|D	0.89917|0.71674	1.0|0.998	D|D	0.83275|0.72982	0.996|0.979	D|D	0.86433|0.86433	0.1762|0.1762	10|9	0.35671|0.87932	T|D	0.21|0	.|.	17.9464|17.9464	0.89040|0.89040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598|613	Q8NEV4|F5H0U9	MYO3A_HUMAN|.	N|Q	1598|613	ENSP00000265944:D1598N|ENSP00000445909:R613Q	ENSP00000265944:D1598N|ENSP00000445909:R613Q	D|R	+|+	1|2	0|0	MYO3A|MYO3A	26540839|26540839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.056000|0.056000	0.15407|0.15407	8.346000|8.346000	0.90060|0.90060	2.478000|2.478000	0.83669|0.83669	0.455000|0.455000	0.32223|0.32223	GAC|CGA		0.652	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	11	0	0	0	1	0	5	11					A	26500833	G	A	26500833	3	1	234	1	0	0	0	0	1	0	0	0	10076	1058	37	1	4922	1	MYO3A	10	26500833	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08		26500833	109033914	13	28160											
BMPR1A	657	broad.mit.edu	37	chr10	88681327	88681327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagggtgggcaccaaacGctacatggctcccgaagtgc	12	13	0	0	rs587780107		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:88681327G>A	ENST00000372037.3	+	11	1754	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCACCAAACGCTACATGGCT	0.473			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"Mis, N, F"	"bone morphogenetic protein receptor, type IA"			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(1216-1218)cGc>cAc		bone morphogenetic protein receptor, type IA							152	143	146					10																	88681327		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88681327G>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"CD molecules"	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1217G>A	10.37:g.88681327G>A	ENSP00000361107:p.Arg406His						p.R406H	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			11	1754	+			406			Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.1217G>A	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671812	0.96754	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.66638	-0.22	5.63	5.63	0.86233	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	0.81912	0.4923	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.82699	-0.0328	10	0.87932	D	0	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	406	P36894	BMR1A_HUMAN	H	406	ENSP00000361107:R406H	ENSP00000224764:R406H	R	+	2	0	BMPR1A	88671307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.738000	0.98835	2.826000	0.97356	0.655000	0.94253	CGC		0.473	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		4	157	0	0	0	1	0	4	157					A	88681327	G	A	88681327	3	1	234	1	0	0	0	0	1	0	0	0	1469	1087	38	1	1251	1	BMPR1A	10	88681327	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	62180494	88681327	46853420	14	28161											
CHST15	51363	broad.mit.edu	37	chr10	125780796	125780796	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggcgttgttgagggtgttGttgtagacgcaggcgcgcag	18	6	0	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:125780796G>C	ENST00000346248.5	-	6	1965	c.1323C>G	c.(1321-1323)aaC>aaG	p.N441K	CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	441					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGAGGGTGTTGTTGTAGACGC	0.542																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1321-1323)aaC>aaG		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							65	58	60					10																	125780796		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125780796G>C	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1323C>G	10.37:g.125780796G>C	ENSP00000333947:p.Asn441Lys					CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K	p.N441K	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			6	1965	-			441					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1323C>G	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026926	0.75390	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	4.41	3.49	0.39957	Sulfotransferase domain (1);	0.108239	0.64402	D	0.000010	T	0.65811	0.2727	L	0.45422	1.42	0.51233	D	0.99991	D;B	0.89917	1.0;0.408	D;B	0.87578	0.998;0.13	T	0.62923	-0.6751	9	0.31617	T	0.26	-22.8097	12.6393	0.56700	0.0832:0.0:0.9168:0.0	.	441;441	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	K	441	.	ENSP00000333947:N441K	N	-	3	2	CHST15	125770786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.332000	0.72934	1.996000	0.58369	0.467000	0.42956	AAC		0.542	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		10	10	0	0	0	1	0	10	10					C	125780796	G	C	125780796	3	2	234	1	0	0	0	0	1	0	0	0	3403	1368	48	4	374	4	CHST15	10	125780796	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	37099469	125780796	9753951	15	28162											
RBM4	5936	broad.mit.edu	37	chr11	66411034	66411035	+	Frame_Shift_Ins	INS	-	-	CGATAGAT													gcactggtccaaagagtgtcINScgatagatcgttcaggccgc							TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:66411034_66411035insCGATAGAT	ENST00000409406.1	+	2	1303_1304	c.526_527insCGATAGAT	c.(526-528)ccgfs	p.-178fs	RBM4_ENST00000503028.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.-153fs|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.-153fs|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4						cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CAAAGAGTGTCCGATAGATCGT	0.579																																						ENST00000409406.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(526-528)gatfs		RNA binding motif protein 4																																				SO:0001589	frameshift_variant	5936							g.chr11:66411034_66411035insCGATAGAT	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.527_534dupCGATAGAT	11.37:g.66411035_66411042dupCGATAGAT	ENSP00000386894:p.Asp178fs					RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.D176fs|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.D151fs|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.D176fs|RBM4_ENST00000503028.2_Frame_Shift_Ins_p.D176fs|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.D151fs|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	p.D176fs						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	1303_1304	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Frame_Shift_Ins	INS	ENST00000409406.1	37	c.526_527insCGATAGAT	CCDS41676.1																																																																																				0.579	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		14	81						14	81	---	---	---	---	CGATAGAT	66411035	-	CGATAGAT	66411034	7	5	234	1	0	1	1	0	0	0	0	0	13134	855	30	0	532	0	RBM4	11	66411034	Frame_Shift_Ins	INS	-	TCGA-HT-7471-01A-11D-2253-08		66411034	68595482	16	28163											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	10	2	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155	134	140					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu					ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	225	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		3	82	0	0	0	1	0	3	82					G	128426243	A	G	128426243	3	3	234	1	0	0	0	0	1	0	0	0	5275	72	3	3	1418	3	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	62015209	128426243	6580273	17	28164											
PZP	5858	broad.mit.edu	37	chr12	9309931	9309931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgactccaggcagaacagGgcattgcgaacaatagggtt	13	9	0	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:9309931G>A	ENST00000261336.2	-	28	3418	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	PZP_ENST00000381997.2_Silent_p.A916A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1130					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCAGAACAGGGCATTGCGAA	0.507																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(3388-3390)gcC>gcT		pregnancy-zone protein							90	87	88					12																	9309931		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9309931G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3390C>T	12.37:g.9309931G>A						PZP_ENST00000381997.2_Silent_p.A916A	p.A1130A	NM_002864.2	NP_002855.2					28	3418	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.3390C>T	CCDS8600.1																																																																																				0.507	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		4	122	0	0	0	1	0	4	122					A	9309931	G	A	9309931	2	1	234	1	0	0	0	0	0	0	0	1	12869	1219	43	2		2	PZP	12	9309931	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		9309931	124541964	18	28165											
CCNT1	904	broad.mit.edu	37	chr12	49087565	49087565	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgcgcatttttatctcctCtggttttgaagacgcagctt	8	9	2	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:49087565C>A	ENST00000261900.3	-	9	1654	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	478					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTTATCTCCTCTGGTTTTGAA	0.453																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1432-1434)Gag>Tag		cyclin T1							95	94	94					12																	49087565		2203	4300	6503	SO:0001587	stop_gained	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087565C>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1432G>T	12.37:g.49087565C>A	ENSP00000261900:p.Glu478*						p.E478*	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1654	-			478					A9XU13|E7EX76|O60581	Nonsense_Mutation	SNP	ENST00000261900.3	37	c.1432G>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803314	0.96960	.	.	ENSG00000129315	ENST00000261900	.	.	.	4.8	4.8	0.61643	.	0.458255	0.24590	N	0.037239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.8064	16.968	0.86291	0.0:1.0:0.0:0.0	.	.	.	.	X	478	.	ENSP00000261900:E478X	E	-	1	0	CCNT1	47373832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.983000	0.70540	2.368000	0.80403	0.561000	0.74099	GAG		0.453	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		36	65	1	0	1.836e-18	1	1.93263e-18	36	65					A	49087565	C	A	49087565	4	1	234	1	0	0	0	0	0	1	0	0	2934	922	32	4	752	4	CCNT1	12	49087565	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08	39777634	49087565	84764330	19	28166											
CHRNA3	1136	broad.mit.edu	37	chr15	78894483	78894483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagttttggtaatcaaaCgggaagtaggtcacgtcgat	12	6	2	0	rs577413653		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr15:78894483C>T	ENST00000326828.5	-	5	885	c.501G>A	c.(499-501)ccG>ccA	p.P167P	CHRNA3_ENST00000348639.3_Silent_p.P167P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GGTAATCAAACGGGAAGTAGG	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19157	0.0		0.0	False		,,,				2504	0.0					ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(499-501)ccG>ccA		cholinergic receptor, nicotinic, alpha 3 (neuronal)							169	156	160					15																	78894483		2196	4293	6489	SO:0001819	synonymous_variant	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894483C>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.501G>A	15.37:g.78894483C>T						CHRNA3_ENST00000348639.3_Silent_p.P167P	p.P167P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	885	-			167					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.501G>A	CCDS10305.1																																																																																				0.483	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			28	137	0	0	0	1	0	28	137					T	78894483	C	T	78894483	2	4	234	1	0	0	0	0	0	0	0	1	3384	523	19	1		1	CHRNA3	15	78894483	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78894483	23636909	20	28167											
MYH4	4622	broad.mit.edu	37	chr17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgatctcctccagctccCgggagaggtcagagcgctgc	12	15	2	3	rs534689609		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:10355562C>T	ENST00000255381.2	-	27	3544	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1145					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.R1145L(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						CTCCAGCTCCCGGGAGAGGTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17016	0.0		0.0	False		,,,				2504	0.001					ENST00000255381.2																			1	Substitution - Missense(1)	p.R1145L(1)	lung(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						c.(3433-3435)cGg>cAg		myosin, heavy chain 4, skeletal muscle							66	75	72					17																	10355562		2203	4299	6502	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355562C>T		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.3434G>A	17.37:g.10355562C>T	ENSP00000255381:p.Arg1145Gln					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1145Q	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3544	-			1145						Missense_Mutation	SNP	ENST00000255381.2	37	c.3434G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390348	0.95988	.	.	ENSG00000141048	ENST00000255381	T	0.81163	-1.46	5.4	5.4	0.78164	Myosin tail (1);	0.000000	0.36101	U	0.002792	D	0.89385	0.6700	M	0.72118	2.19	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.88321	0.2962	10	0.44086	T	0.13	.	19.5183	0.95174	0.0:1.0:0.0:0.0	.	1145	Q9Y623	MYH4_HUMAN	Q	1145	ENSP00000255381:R1145Q	ENSP00000255381:R1145Q	R	-	2	0	MYH4	10296287	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.826000	0.62715	2.685000	0.91497	0.655000	0.94253	CGG		0.592	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	155	0	0	0	1	0	6	155					T	10355562	C	T	10355562	3	4	234	1	0	0	0	0	1	0	0	0	10037	652	23	1	2441	1	MYH4	17	10355562	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		10355562	70839648	21	28168											
TMC8	147138	broad.mit.edu	37	chr17	76130033	76130033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacttctgcatccgggtGcaggaagcagccaccatcaa	12	12	2	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:76130033G>A	ENST00000318430.5	+	7	1142	c.768G>A	c.(766-768)gtG>gtA	p.V256V	TMC8_ENST00000589691.1_Silent_p.V33V|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	256					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)			GCATCCGGGTGCAGGAAGCAG	0.577																																						ENST00000318430.5																			0				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						c.(766-768)gtG>gtA		transmembrane channel-like 8							73	72	73					17																	76130033		2203	4300	6503	SO:0001819	synonymous_variant	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76130033G>A	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.768G>A	17.37:g.76130033G>A						TMC8_ENST00000589691.1_Silent_p.V33V	p.V256V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		7	1142	+			256					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.768G>A	CCDS32749.1																																																																																				0.577	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			31	35	0	0	0	1	0	31	35					A	76130033	G	A	76130033	2	1	234	1	0	0	0	0	0	0	0	1	15988	1306	46	2		2	TMC8	17	76130033	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08	65774471	76130033	5065177	22	28169											
GATA6	2627	broad.mit.edu	37	chr18	19751533	19751533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccccttcgcacccgagcAgccggaggagatgtaccaga	13	14	0	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr18:19751533A>G	ENST00000269216.3	+	2	705	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	143					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCCGAGCAGCCGGAGGAG	0.716																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(427-429)cAg>cGg		GATA binding protein 6							14	19	17					18																	19751533		2176	4263	6439	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751533A>G	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.428A>G	18.37:g.19751533A>G	ENSP00000269216:p.Gln143Arg					GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R	p.Q143R	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	705	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		143					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.428A>G	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	a	14.72	2.620219	0.46736	.	.	ENSG00000141448	ENST00000269216	D	0.97870	-4.58	3.15	1.95	0.26073	.	1.149030	0.06494	N	0.735174	D	0.93284	0.7860	N	0.24115	0.695	0.20926	N	0.999826	P	0.42827	0.791	B	0.38056	0.264	D	0.86812	0.1999	10	0.16420	T	0.52	-23.1144	7.9805	0.30181	0.5901:0.4099:0.0:0.0	.	143	Q92908	GATA6_HUMAN	R	143	ENSP00000269216:Q143R	ENSP00000269216:Q143R	Q	+	2	0	GATA6	18005531	0.998000	0.40836	0.867000	0.34043	0.991000	0.79684	0.922000	0.28734	0.304000	0.22809	0.370000	0.22315	CAG		0.716	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		6	33	0	0	0	1	0	6	33					G	19751533	A	G	19751533	3	3	234	1	0	0	0	0	1	0	0	0	6258	188	7	3	430	3	GATA6	18	19751533	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		19751533	58325715	23	28170											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				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						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	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.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	76	0	0	0	1	0	4	76					G	9090831	A	G	9090831	2	3	234	1	0	0	0	0	0	0	0	1	9973	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-HT-7471-01A-11D-2253-08		9090831	50038152	24	28171											
GLT25D1	79709	broad.mit.edu	37	chr19	17690296	17690296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctccctcaggtggtGgaccgggggctgcagaaatc	15	12	1	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:17690296G>A	ENST00000252599.4	+	10	1392	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	424					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTCAGGTGGTGGACCGGGGGC	0.562																																						ENST00000252599.4																			0											c.(1270-1272)gtG>gtA		collagen beta(1-O)galactosyltransferase 1							79	70	73					19																	17690296		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17690296G>A	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.1272G>A	19.37:g.17690296G>A							p.V424V	NM_024656.2	NP_078932.2					10	1392	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.1272G>A	CCDS12363.1																																																																																				0.562	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		29	42	0	0	0	1	0	29	42					A	17690296	G	A	17690296	2	1	234	1	0	0	0	0	0	0	0	1	6466	1335	47	2		2	GLT25D1	19	17690296	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08	8599465	17690296	41438687	25	28172											
ATP13A1	57130	broad.mit.edu	37	chr19	19758334	19758334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagcacctggctcaggcGgtcctgcagggtagacagca	14	13	1	1	rs568921217		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:19758334G>A	ENST00000357324.6	-	21	2823	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	933						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCTCAGGCGGTCCTGCAGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15950	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2797-2799)Cgc>Tgc		ATPase type 13A1							62	53	56					19																	19758334		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19758334G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2797C>T	19.37:g.19758334G>A	ENSP00000349877:p.Arg933Cys					ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C	p.R933C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			21	2823	-			933					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2797C>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	g	18.50	3.637537	0.67130	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.25912	1.77;1.77	5.52	4.47	0.54385	.	0.208611	0.48286	D	0.000193	T	0.42471	0.1204	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.856;0.894	T	0.33189	-0.9878	10	0.59425	D	0.04	-26.4473	9.224	0.37395	0.0:0.1596:0.6751:0.1653	.	933;815	Q9HD20;Q9HD20-2	AT131_HUMAN;.	C	815;933	ENSP00000291503:R815C;ENSP00000349877:R933C	ENSP00000291503:R815C	R	-	1	0	ATP13A1	19619334	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.837000	0.48191	1.314000	0.45095	0.651000	0.88453	CGC		0.637	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		3	22	0	0	0	1	0	3	22					A	19758334	G	A	19758334	3	1	234	1	0	0	0	0	1	0	0	0	1123	1116	39	1	841	1	ATP13A1	19	19758334	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	2068038	19758334	39370649	26	28173											
CIC	23152	broad.mit.edu	37	chr19	42794411	42794411	+	Frame_Shift_Del	DEL	T	T	-													ggtcggaaggtgttttcaccTgtgatccgttcctcctttac							TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:42794411delT	ENST00000575354.2	+	10	1531	c.1491delT	c.(1489-1491)cctfs	p.P497fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.P1406fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	497					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)				TGTTTTCACCTGTGATCCGTT	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(4216-4218)ccfs		capicua transcriptional repressor							101	96	98					19																	42794411		2203	4300	6503	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794411delT	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.1491delT	19.37:g.42794411delT	ENSP00000458663:p.Pro497fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.P497fs	p.P1406fs			Q96RK0	CIC_HUMAN			11	4286	+		Prostate(69;0.00682)	497					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4218delT	CCDS12601.1																																																																																				0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			82	27						82	27	---	---	---	---	-	42794411	T	-	42794411	7	5	234	1	0	1	0	1	0	0	0	0	3424	1567	55	0	1529	0	CIC	19	42794411	Frame_Shift_Del	DEL	T	TCGA-HT-7471-01A-11D-2253-08	23036077	42794411	16334572	27	28174											
ZNF761	388561	broad.mit.edu	37	chr19	53959188	53959188	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtgacaaagctttccGtttcaaatcaaaccttgaaa	6	8	2	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							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)		AAAGCTTTCCGTTTCAAATCA	0.423																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							75	80	78					19																	53959188		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959188G>A	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.53959188G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1880	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.423	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		36	2	0	0	0	1	0	36	2					A	53959188	G	A	53959188	1	1	234	0	1	0	0	0	0	0	0	0	18133	1145	40	1		1	ZNF761	19	53959188	RNA	SNP	G	TCGA-HT-7471-01A-11D-2253-08	11164777	53959188	5169795	28	28175											
ZNF512B	57473	broad.mit.edu	37	chr20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcttttggccgccccTttttcttcccttctgtcttg	7	15	4	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(220-222)aAg>aGg		zinc finger protein 512B							132	131	131					20																	62598777		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598777T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.221A>G	20.37:g.62598777T>C	ENSP00000393795:p.Lys74Arg					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R	p.K74R			Q96KM6	Z512B_HUMAN			3	281	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		74					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.221A>G	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861503	0.91433	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.052827	0.64402	D	0.000001	T	0.54351	0.1853	L	0.29908	0.895	0.35311	D	0.783854	D	0.76494	0.999	D	0.63283	0.913	T	0.67473	-0.5662	10	0.87932	D	0	-24.5009	13.9406	0.64052	0.0:0.0:0.0:1.0	.	74	Q96KM6	Z512B_HUMAN	R	74	ENSP00000358904:K74R;ENSP00000393795:K74R;ENSP00000217130:K74R	ENSP00000217130:K74R	K	-	2	0	ZNF512B	62069221	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	6.885000	0.75606	2.032000	0.59987	0.459000	0.35465	AAG		0.632	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	125	0	0	0	1	0	3	125					C	62598777	T	C	62598777	3	2	234	1	0	0	0	0	1	0	0	0	17954	1609	56	3	2517	3	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7471-01A-11D-2253-08		62598777	426743	29	28176											
SON	6651	broad.mit.edu	37	chr21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttagcaactagctcaAtggattcccagatgttagca	9	8	1	2	rs142324795		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													A|||	1	0.000199681	0.0	0.0014	5008	,	,		26099	0.0		0.0	False		,,,				2504	0.0					ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2581-2583)Atg>Gtg		SON DNA binding protein		A	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	173	169	170		2581,2581	5.7	1	21	dbSNP_134	170	0,8600		0,0,4300	yes	missense,missense	SON	NM_032195.1,NM_138927.1	21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	861/2304,861/2427	34924118	1,13005	2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924118A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2581A>G	21.37:g.34924118A>G	ENSP00000348984:p.Met861Val					SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M861V	p.M861V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3056	+			861			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2581A>G	CCDS13629.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	13.29	2.193512	0.38707	2.27E-4	0.0	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	D	0.86418	0.5928	M	0.63843	1.955	0.29292	N	0.869312	P;P;B	0.50369	0.891;0.934;0.02	P;D;B	0.65684	0.867;0.937;0.041	T	0.80930	-0.1162	10	0.21014	T	0.42	.	13.9442	0.64075	1.0:0.0:0.0:0.0	.	861;861;861	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	861	ENSP00000348984:M861V;ENSP00000290239:M861V;ENSP00000300278:M861V;ENSP00000371095:M861V	ENSP00000290239:M861V	M	+	1	0	SON	33845988	0.861000	0.29849	1.000000	0.80357	0.955000	0.61496	1.578000	0.36525	2.168000	0.68352	0.524000	0.50904	ATG		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		81	112	0	0	0	1	0	81	112					G	34924118	A	G	34924118	3	3	234	1	0	0	0	0	1	0	0	0	14926	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		34924118	13205777	30	28177											
LRRC3	81543	broad.mit.edu	37	chr21	45876870	45876870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgggcctggccgggggcCtgcggctgctggacctgtct	18	14	1	0	rs138458454		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:45876870C>T	ENST00000291592.4	+	2	660	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	115						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCCGGGGGCCTGCGGCTGCT	0.672																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(343-345)Ctg>Ttg		leucine rich repeat containing 3		C		0,4370		0,0,2185	26	30	28		343	3.9	1	21	dbSNP_134	28	1,8525		0,1,4262	no	coding-synonymous	LRRC3	NM_030891.3		0,1,6447	TT,TC,CC		0.0117,0.0,0.0078		115/258	45876870	1,12895	2185	4263	6448	SO:0001819	synonymous_variant	81543					integral to membrane	protein binding	g.chr21:45876870C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.343C>T	21.37:g.45876870C>T							p.L115L	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	660	+		Breast(209;0.00908)	115					Q0VDJ2	Silent	SNP	ENST00000291592.4	37	c.343C>T	CCDS13711.1																																																																																				0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			4	49	0	0	0	1	0	4	49					T	45876870	C	T	45876870	2	4	234	1	0	0	0	0	0	0	0	1	8984	680	24	2		2	LRRC3	21	45876870	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	10952752	45876870	2253025	31	28178											
MXRA5	25878	broad.mit.edu	37	chrX	3238337	3238337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagttagttgagggtgatcCcgtggtctgcggagtgtgca	16	6	1	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:3238337C>T	ENST00000217939.6	-	5	5543	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1797						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)				GAGGGTGATCCCGTGGTCTGC	0.493																																						ENST00000217939.6																			0				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						c.(5389-5391)Gga>Aga		matrix-remodelling associated 5							88	83	85					X																	3238337		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238337C>T	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.5389G>A	X.37:g.3238337C>T	ENSP00000217939:p.Gly1797Arg						p.G1797R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5543	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1797					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5389G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	8.335	0.827310	0.16749	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62232	0.04	3.53	-1.14	0.09741	.	1.982520	0.03569	U	0.228242	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.20940	-1.0260	10	0.48119	T	0.1	.	0.2047	0.00149	0.2188:0.2104:0.2271:0.3437	.	1797	Q9NR99	MXRA5_HUMAN	R	1797	ENSP00000217939:G1797R	ENSP00000217939:G1797R	G	-	1	0	MXRA5	3248337	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.607000	0.05648	-0.005000	0.14395	-0.381000	0.06696	GGA		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	23	0	0	0	1	0	20	23					T	3238337	C	T	3238337	3	4	234	1	0	0	0	0	1	0	0	0	10003	632	22	2	3109	2	MXRA5	23	3238337	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		3238337	152032223	32	28179											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	142	0	0	0	1	0	3	142					G	37028425	A	G	37028425	3	3	234	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	33790088	37028425	118242135	33	28180											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	428						7	428	---	---	---	---	-	149984526	GTG	-	149984524	7	5	234	1	0	1	0	1	0	0	0	0	3051	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HT-7471-01A-11D-2253-08	112956099	149984524	5286036	34	28181											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531779	150531779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgctcctccgaatgtgGctctggcacacagcgtagag	12	12	1	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:150531779G>A	ENST00000369038.2	+	15	2981	c.2780G>A	c.(2779-2781)gGc>gAc	p.G927D	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G950D|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.G927D			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	927	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|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)			TCCGAATGTGGCTCTGGCACA	0.592											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2779-2781)gGc>gAc		ADAMTS-like 4							90	71	77					1																	150531779		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150531779G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2780G>A	1.37:g.150531779G>A	ENSP00000358034:p.Gly927Asp		OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G927D|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G950D	p.G927D	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	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)		17	3016	+	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)		927			TSP type-1 5.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2780G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081126	0.76528	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.70164	-0.46;-0.46;-0.46	5.52	5.52	0.82312	.	.	.	.	.	T	0.82001	0.4942	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.993;1.0	D	0.84778	0.0771	9	0.72032	D	0.01	.	16.9196	0.86160	0.0:0.0:1.0:0.0	.	888;950;927	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	D	927;950;927	ENSP00000271643:G927D;ENSP00000358035:G950D;ENSP00000358034:G927D	ENSP00000271643:G927D	G	+	2	0	ADAMTSL4	148798403	1.000000	0.71417	0.991000	0.47740	0.429000	0.31625	9.108000	0.94275	2.584000	0.87258	0.462000	0.41574	GGC		0.592	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		8	57	0	0	0	1	0	8	57					A	150531779	G	A	150531779	3	1	235	1	0	0	0	0	1	0	0	0	277	1203	42	2	2913	2	ADAMTSL4	1	150531779	Missense_Mutation	SNP	G	TCGA-HT-7472-01A-11D-2024-08		150531779	98718842	1	28182											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													catagtgggaactctggcctTgtctgtctgtctgaccgtag							TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.R432K(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1294-1299)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128277_152128280delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295_1298delGACA	1.37:g.152128285_152128288delTGTC	ENSP00000317895:p.Arg432fs						p.RQ432fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1359_1362	-			432			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1295_1298delGACA	CCDS41397.1																																																																																				0.525	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1154						7	1154	---	---	---	---	-	152128280	TGTC	-	152128277	7	5	235	1	0	1	0	1	0	0	0	0	13664	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-HT-7472-01A-11D-2024-08	1596498	152128277	97122344	2	28183											
CACNA1E	777	broad.mit.edu	37	chr1	181754902	181754902	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatctctgcctcaggagatCattgctaatgccaaagccct	7	13	4	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:181754902C>A	ENST00000367573.2	+	43	5733	c.5733C>A	c.(5731-5733)atC>atA	p.I1911I	CACNA1E_ENST00000526775.1_Silent_p.I1892I|CACNA1E_ENST00000367570.1_Silent_p.I1911I|CACNA1E_ENST00000358338.5_Silent_p.I1843I|CACNA1E_ENST00000357570.5_Silent_p.I1862I|CACNA1E_ENST00000360108.3_Silent_p.I1892I|CACNA1E_ENST00000367567.4_Silent_p.I1518I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1911					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						CTCAGGAGATCATTGCTAATG	0.507																																						ENST00000526775.1																			0				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						c.(5674-5676)atC>atA		calcium channel, voltage-dependent, R type, alpha 1E subunit							191	185	187					1																	181754902		1926	4147	6073	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181754902C>A	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.5733C>A	1.37:g.181754902C>A						CACNA1E_ENST00000358338.5_Silent_p.I1843I|CACNA1E_ENST00000360108.3_Silent_p.I1892I|CACNA1E_ENST00000367573.2_Silent_p.I1911I|CACNA1E_ENST00000367567.4_Silent_p.I1518I|CACNA1E_ENST00000367570.1_Silent_p.I1911I|CACNA1E_ENST00000357570.5_Silent_p.I1862I	p.I1892I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			42	5841	+			1911					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5676C>A	CCDS55664.1																																																																																				0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	253	1	0	0.010729	1	0.010729	10	253					A	181754902	C	A	181754902	2	1	235	1	0	0	0	0	0	0	0	1	2542	816	29	4		4	CACNA1E	1	181754902	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	29626625	181754902	67495719	3	28184											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414640	213414640	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaggatagacagtaaggaTagcgcaagtgaactcctggg	13	6	0	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:213414640T>C	ENST00000366960.3	+	11	1971	c.1821T>C	c.(1819-1821)gaT>gaC	p.D607D	RPS6KC1_ENST00000543354.1_Silent_p.D310D|RPS6KC1_ENST00000366959.3_Silent_p.D595D|RPS6KC1_ENST00000543470.1_Silent_p.D395D|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	607					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAGTAAGGATAGCGCAAGTG	0.408																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1819-1821)gaT>gaC		ribosomal protein S6 kinase, 52kDa, polypeptide 1							48	51	50					1																	213414640		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414640T>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1821T>C	1.37:g.213414640T>C						RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.D395D|RPS6KC1_ENST00000366959.3_Silent_p.D595D|RPS6KC1_ENST00000543354.1_Silent_p.D310D	p.D607D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1971	+			607					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.1821T>C	CCDS1513.1																																																																																				0.408	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		19	54	0	0	0	1	0	19	54					C	213414640	T	C	213414640	2	2	235	1	0	0	0	0	0	0	0	1	13658	1403	49	3		3	RPS6KC1	1	213414640	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08	31659738	213414640	35835981	4	28185											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	45	0	0	0	1	0	27	45					T	209113112	C	T	209113112	3	4	235	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		209113112	34086261	5	28186											
WNT7A	7476	broad.mit.edu	37	chr3	13860812	13860812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtacttgtccttgagcaCgtagcccagctcccgaaact	9	13	0	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:13860812C>T	ENST00000285018.4	-	4	983	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	227					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|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)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCTTGAGCACGTAGCCCAGC	0.587																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(679-681)Gtg>Atg		wingless-type MMTV integration site family, member 7A							112	103	106					3																	13860812		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860812C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.679G>A	3.37:g.13860812C>T	ENSP00000285018:p.Val227Met						p.V227M	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			4	983	-			227					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.679G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.719630	0.30503	.	.	ENSG00000154764	ENST00000285018	T	0.76060	-0.99	4.29	3.13	0.36017	.	0.278731	0.35525	N	0.003148	T	0.59689	0.2212	L	0.38692	1.165	0.32888	D	0.511484	B	0.11235	0.004	B	0.13407	0.009	T	0.62172	-0.6910	10	0.42905	T	0.14	.	5.7395	0.18085	0.0:0.7347:0.0:0.2653	.	227	O00755	WNT7A_HUMAN	M	227	ENSP00000285018:V227M	ENSP00000285018:V227M	V	-	1	0	WNT7A	13835813	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.275000	0.43399	2.121000	0.65114	0.558000	0.71614	GTG		0.587	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		13	60	0	0	0	1	0	13	60					T	13860812	C	T	13860812	3	4	235	1	0	0	0	0	1	0	0	0	17391	536	19	1	374	1	WNT7A	3	13860812	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		13860812	184161618	6	28187											
OSBPL10	114884	broad.mit.edu	37	chr3	31725264	31725264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgggacacttgctcagCcacaaaccttagtttgtagc	10	10	1	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:31725264C>T	ENST00000396556.2	-	8	1710	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A466T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	530					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGCTCAGCCACAAACCTT	0.527																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1588-1590)Gct>Act		oxysterol binding protein-like 10							172	147	155					3																	31725264		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31725264C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1588G>A	3.37:g.31725264C>T	ENSP00000379804:p.Ala530Thr					OSBPL10_ENST00000438237.2_Missense_Mutation_p.A466T	p.A530T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	8	1710	-			530					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1588G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.875009|5.875009	0.97055|0.97055	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000396556;ENST00000438237|ENST00000429492	T;T|.	0.34667|.	1.35;1.35|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.81484|.	0.4832|.	M|M	0.79614|0.79614	2.46|2.46	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.968;1.0|.	D;D;D|.	0.97110|.	1.0;0.952;1.0|.	T|.	0.80487|.	-0.1361|.	10|.	0.87932|.	D|.	0|.	-16.9943|-16.9943	20.1204|20.1204	0.97958|0.97958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	466;530;298|.	B4E212;Q9BXB5;Q59ED9|.	.;OSB10_HUMAN;.|.	T|X	530;466|298	ENSP00000379804:A530T;ENSP00000406124:A466T|.	ENSP00000379804:A530T|.	A|W	-|-	1|3	0|0	OSBPL10|OSBPL10	31700268|31700268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.818000|7.818000	0.86416|0.86416	2.832000|2.832000	0.97577|0.97577	0.585000|0.585000	0.79938|0.79938	GCT|TGG		0.527	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			8	93	0	0	0	1	0	8	93					T	31725264	C	T	31725264	3	4	235	1	0	0	0	0	1	0	0	0	11275	739	26	2	726	2	OSBPL10	3	31725264	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	17864452	31725264	166297166	7	28188											
MYH15	22989	broad.mit.edu	37	chr3	108216948	108216948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtggcaaaatactggAtaatatgtttgctgttcaca	9	6	1	0			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:108216948A>G	ENST00000273353.3	-	7	685	c.629T>C	c.(628-630)aTc>aCc	p.I210T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	210	Myosin motor.					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						AAAATACTGGATAATATGTTT	0.403																																						ENST00000273353.3																			0				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						c.(628-630)aTc>aCc		myosin, heavy chain 15							154	154	154					3																	108216948		1925	4152	6077	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108216948A>G	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.629T>C	3.37:g.108216948A>G	ENSP00000273353:p.Ile210Thr						p.I210T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			7	685	-			210			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.629T>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586855	0.86851	.	.	ENSG00000144821	ENST00000273353	T	0.73681	-0.77	5.85	5.85	0.93711	Myosin head, motor domain (3);	.	.	.	.	D	0.92815	0.7715	H	0.99444	4.57	0.58432	D	0.999995	P	0.49862	0.929	D	0.85130	0.997	D	0.95590	0.8654	9	0.87932	D	0	.	16.2092	0.82147	1.0:0.0:0.0:0.0	.	210	Q9Y2K3	MYH15_HUMAN	T	210	ENSP00000273353:I210T	ENSP00000273353:I210T	I	-	2	0	MYH15	109699638	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	8.871000	0.92346	2.371000	0.80710	0.533000	0.62120	ATC		0.403	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		55	96	0	0	0	1	0	55	96					G	108216948	A	G	108216948	3	3	235	1	0	0	0	0	1	0	0	0	10034	333	12	3	5355	3	MYH15	3	108216948	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08	76491684	108216948	89805482	8	28189											
MED28	80306	broad.mit.edu	37	chr4	17616285	17616285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccattccaaacatggcggCtccactagggggtatgtttt	11	11	0	0			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr4:17616285C>T	ENST00000237380.7	+	1	32	c.8C>T	c.(7-9)gCt>gTt	p.A3V	AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	3					negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						AACATGGCGGCTCCACTAGGG	0.652																																						ENST00000237380.6																			0				lung(6)|skin(2)	8						c.(7-9)gCt>gTt		mediator complex subunit 28							19	23	21					4																	17616285		2198	4298	6496	SO:0001583	missense	80306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	g.chr4:17616285C>T	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980	ENST00000237380.7:c.8C>T	4.37:g.17616285C>T	ENSP00000237380:p.Ala3Val						p.A3V	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN			1	32	+			3					Q9BZJ5	Missense_Mutation	SNP	ENST00000237380.7	37	c.8C>T	CCDS33963.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072333	0.55646	.	.	ENSG00000118579	ENST00000237380	.	.	.	5.46	5.46	0.80206	.	0.227339	0.45867	D	0.000324	T	0.40670	0.1126	N	0.19112	0.55	0.33517	D	0.591923	B	0.18741	0.03	B	0.15870	0.014	T	0.51756	-0.8665	9	0.72032	D	0.01	-5.7974	15.7664	0.78128	0.0:0.8635:0.1365:0.0	.	3	Q9H204	MED28_HUMAN	V	3	.	ENSP00000237380:A3V	A	+	2	0	MED28	17225383	1.000000	0.71417	0.995000	0.50966	0.234000	0.25298	4.516000	0.60496	2.840000	0.97914	0.655000	0.94253	GCT		0.652	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360055.3	NM_025205		16	23	0	0	0	1	0	16	23					T	17616285	C	T	17616285	3	4	235	1	0	0	0	0	1	0	0	0	9446	797	28	2	10	2	MED28	4	17616285	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		17616285	173537991	9	28190											
F13A1	2162	broad.mit.edu	37	chr6	6145947	6145947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctatcagcttccgatgccCagagacccagggccggcaca	12	15	1	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:6145947C>T	ENST00000264870.3	-	15	2369	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	702					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)	TTCCGATGCCCAGAGACCCAG	0.547																																						ENST00000264870.3																			0				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						c.(2104-2106)Ggg>Agg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						117	103	108					6																	6145947		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6145947C>T	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.2104G>A	6.37:g.6145947C>T	ENSP00000264870:p.Gly702Arg						p.G702R	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			15	2369	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	702					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.2104G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096862	0.76870	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.87256	-2.23	5.91	5.91	0.95273	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94182	0.8133	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94527	0.7732	10	0.87932	D	0	.	17.7923	0.88558	0.0:1.0:0.0:0.0	.	702	P00488	F13A_HUMAN	R	702;596	ENSP00000264870:G702R	ENSP00000264870:G702R	G	-	1	0	F13A1	6090946	0.968000	0.33430	0.822000	0.32727	0.638000	0.38207	4.632000	0.61311	2.793000	0.96121	0.655000	0.94253	GGG		0.547	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		17	76	0	0	0	1	0	17	76					T	6145947	C	T	6145947	3	4	235	1	0	0	0	0	1	0	0	0	5340	594	21	2	98	2	F13A1	6	6145947	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		6145947	164969120	10	28191											
MKLN1	4289	broad.mit.edu	37	chr7	131113796	131113799	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													tttctgattttcatagagacTgtttatttgtttggtggctg					rs369279614		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:131113796_131113799delTGTT	ENST00000352689.6	+	9	892_895	c.852_855delTGTT	c.(850-855)actgttfs	p.TV284fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.TV192fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	284					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCATAGAGACTGTTTATTTGTTTG	0.402																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(850-855)acfs		muskelin 1, intracellular mediator containing kelch motifs																																				SO:0001589	frameshift_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131113796_131113799delTGTT	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.852_855delTGTT	7.37:g.131113796_131113799delTGTT	ENSP00000323527:p.Thr284fs					MKLN1_ENST00000421797.2_Frame_Shift_Del_p.TV192fs	p.TV284fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			9	892_895	+	Melanoma(18;0.162)		284					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Frame_Shift_Del	DEL	ENST00000352689.6	37	c.852_855delTGTT	CCDS34754.1																																																																																				0.402	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		20	49						20	49	---	---	---	---	-	131113799	TGTT	-	131113796	7	5	235	1	0	1	0	1	0	0	0	0	9603	1567	55	0	919	0	MKLN1	7	131113796	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7472-01A-11D-2024-08		131113796	28024867	11	28192											
PCM1	5108	broad.mit.edu	37	chr8	17867095	17867096	+	Frame_Shift_Del	DEL	TG	TG	-													ctggcagaaaactgaaagacTgtggagaagatcttcttgta					rs368521208		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:17867095_17867096delTG	ENST00000519253.1	+	31	5229_5230	c.4978_4979delTG	c.(4978-4980)tgtfs	p.C1660fs	PCM1_ENST00000325083.8_Frame_Shift_Del_p.C1668fs|PCM1_ENST00000327578.8_Frame_Shift_Del_p.C367fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.C1614fs			Q15154	PCM1_HUMAN	pericentriolar material 1	1668	Interaction with HAP1.				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)		ACTGAAAGACTGTGGAGAAGAT	0.287			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(5002-5004)tfs		pericentriolar material 1																																				SO:0001589	frameshift_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17867095_17867096delTG		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.4978_4979delTG	8.37:g.17867097_17867098delTG	ENSP00000431099:p.Cys1660fs					PCM1_ENST00000327578.8_Frame_Shift_Del_p.C367fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.C1614fs|PCM1_ENST00000519253.1_Frame_Shift_Del_p.C1660fs	p.C1668fs	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	31	5441_5442	+			1668			Interaction with HAP1.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Frame_Shift_Del	DEL	ENST00000519253.1	37	c.5002_5003delTG																																																																																					0.287	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		4	9						4	9	---	---	---	---	-	17867096	TG	-	17867095	7	5	235	1	0	1	0	1	0	0	0	0	11584	1580	55	0	5116	0	PCM1	8	17867095	Frame_Shift_Del	DEL	TG	TCGA-HT-7472-01A-11D-2024-08		17867095	128496927	12	28193											
VDAC3	7419	broad.mit.edu	37	chr8	42257212	42257212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgataccatatttgtacCgaacacagggtaattattca	6	8	2	1	rs369188553		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:42257212C>T	ENST00000022615.4	+	6	382	c.314C>T	c.(313-315)cCg>cTg	p.P105L	VDAC3_ENST00000522572.1_Missense_Mutation_p.P106L|VDAC3_ENST00000392935.3_Missense_Mutation_p.P106L|VDAC3_ENST00000521158.1_Missense_Mutation_p.P106L			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	105					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|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;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATATTTGTACCGAACACAGGG	0.338																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(316-318)cCg>cTg		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)	C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	66	66	66		317,314	5.8	1	8		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VDAC3	NM_001135694.1,NM_005662.5	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	106/285,105/284	42257212	1,13005	2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42257212C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.314C>T	8.37:g.42257212C>T	ENSP00000022615:p.Pro105Leu					VDAC3_ENST00000522572.1_Missense_Mutation_p.P106L|VDAC3_ENST00000022615.4_Missense_Mutation_p.P105L|VDAC3_ENST00000521158.1_Missense_Mutation_p.P106L	p.P106L	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	460	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|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)	105					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.317C>T	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905415	0.72868	0.0	1.16E-4	ENSG00000078668	ENST00000518563;ENST00000392935;ENST00000520115;ENST00000522069;ENST00000522572;ENST00000521158;ENST00000022615	T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	H	0.95574	3.69	0.80722	D	1	P	0.44195	0.828	B	0.36244	0.22	T	0.75516	-0.3290	10	0.66056	D	0.02	-12.8819	17.8645	0.88792	0.0:1.0:0.0:0.0	.	105	Q9Y277	VDAC3_HUMAN	L	73;106;105;105;106;106;105	ENSP00000428977:P73L;ENSP00000442811:P106L;ENSP00000428519:P105L;ENSP00000429006:P105L;ENSP00000428029:P106L;ENSP00000428845:P106L;ENSP00000022615:P105L	ENSP00000022615:P105L	P	+	2	0	VDAC3	42376369	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCG		0.338	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			12	24	0	0	0	1	0	12	24					T	42257212	C	T	42257212	3	4	235	1	0	0	0	0	1	0	0	0	17145	652	23	1	331	1	VDAC3	8	42257212	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	24390117	42257212	104106810	13	28194											
GAPVD1	26130	broad.mit.edu	37	chr9	128124938	128124938	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatatcagtagcttttatgcTagctgtctgtctggagagga	11	6	3	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:128124938T>C	ENST00000495955.1	+	28	4640	c.4350T>C	c.(4348-4350)gcT>gcC	p.A1450A	GAPVD1_ENST00000470056.1_Silent_p.A1405A|GAPVD1_ENST00000265956.4_Silent_p.A1424A|GAPVD1_ENST00000394104.2_Silent_p.A1450A|GAPVD1_ENST00000297933.6_Silent_p.A1432A|GAPVD1_ENST00000394105.2_Silent_p.A1459A|GAPVD1_ENST00000312123.9_Silent_p.A1411A|GAPVD1_ENST00000394083.2_Silent_p.A1384A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1450	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						GCTTTTATGCTAGCTGTCTGT	0.418																																						ENST00000470056.1																			0				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						c.(4213-4215)gcT>gcC		GTPase activating protein and VPS9 domains 1							149	142	144					9																	128124938		2203	4300	6503	SO:0001819	synonymous_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128124938T>C		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.4350T>C	9.37:g.128124938T>C						GAPVD1_ENST00000394083.2_Silent_p.A1384A|GAPVD1_ENST00000297933.6_Silent_p.A1432A|GAPVD1_ENST00000312123.9_Silent_p.A1411A|GAPVD1_ENST00000265956.4_Silent_p.A1424A|GAPVD1_ENST00000394104.2_Silent_p.A1450A|GAPVD1_ENST00000495955.1_Silent_p.A1450A|GAPVD1_ENST00000394105.2_Silent_p.A1459A	p.A1405A			Q14C86	GAPD1_HUMAN			25	4375	+			1450			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37	c.4215T>C																																																																																					0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			48	85	0	0	0	1	0	48	85					C	128124938	T	C	128124938	2	2	235	1	0	0	0	0	0	0	0	1	6239	1509	53	3		3	GAPVD1	9	128124938	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08		128124938	13088493	14	28195											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854133	129854133	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtcctccatggtcacCaggagtttgtagttgccttg	11	11	1	0			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:129854133C>G	ENST00000373425.3	-	4	1715	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Silent_p.L64L|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	366	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCATGGTCACCAGGAGTTTGT	0.552																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1096-1098)ctG>ctC		angiopoietin-like 2							198	197	197					9																	129854133		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854133C>G	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1098G>C	9.37:g.129854133C>G						RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.L64L|RALGPS1_ENST00000259351.5_Intron	p.L366L	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			4	1715	-			366			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.1098G>C	CCDS6868.1																																																																																				0.552	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		92	198	0	0	0	1	0	92	198					G	129854133	C	G	129854133	2	3	235	1	0	0	0	0	0	0	0	1	614	581	21	4		4	ANGPTL2	9	129854133	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	1729195	129854133	11359298	15	28196											
OR52B6	340980	broad.mit.edu	37	chr11	5602531	5602531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcctttgaccgctAtgtggccatctgctcccccc	10	17	1	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:5602531A>G	ENST00000345043.2	+	1	425	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	142						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)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCTATGTGGCCATC	0.512																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(424-426)tAt>tGt		olfactory receptor, family 52, subfamily B, member 6							126	130	129					11																	5602531		2201	4297	6498	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602531A>G	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.425A>G	11.37:g.5602531A>G	ENSP00000341581:p.Tyr142Cys					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.Y142C	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	425	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	142					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.425A>G	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123728	0.56613	.	.	ENSG00000187747	ENST00000345043	T	0.56444	0.46	5.15	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.465078	0.15815	U	0.243280	T	0.60117	0.2244	M	0.92507	3.315	0.26725	N	0.970706	B	0.33171	0.4	B	0.33890	0.172	T	0.61888	-0.6970	10	0.72032	D	0.01	.	6.8903	0.24226	0.6949:0.1481:0.0:0.1569	.	142	Q8NGF0	O52B6_HUMAN	C	142	ENSP00000341581:Y142C	ENSP00000341581:Y142C	Y	+	2	0	OR52B6	5559107	0.872000	0.30054	0.875000	0.34327	0.899000	0.52679	1.833000	0.39161	0.948000	0.37687	0.528000	0.53228	TAT		0.512	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		49	78	0	0	0	1	0	49	78					G	5602531	A	G	5602531	3	3	235	1	0	0	0	0	1	0	0	0	11113	449	16	3	427	3	OR52B6	11	5602531	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08		5602531	129403985	16	28197											
OR8I2	120586	broad.mit.edu	37	chr11	55861581	55861581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctgataacacatcatcGctgacccaggcgcaggtggc	10	14	1	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:55861581G>A	ENST00000302124.2	+	1	829	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	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(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACACATCATCGCTGACCCAGG	0.468																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(796-798)tcG>tcA		olfactory receptor, family 8, subfamily I, member 2							103	101	102					11																	55861581		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861581G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.798G>A	11.37:g.55861581G>A						OR8I2_ENST00000560768.1_3'UTR	p.S266S			Q8N0Y5	OR8I2_HUMAN			1	829	+	Esophageal squamous(21;0.00693)		266					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.798G>A	CCDS31517.1																																																																																				0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		7	89	0	0	0	1	0	7	89					A	55861581	G	A	55861581	2	1	235	1	0	0	0	0	0	0	0	1	11240	1074	38	1		1	OR8I2	11	55861581	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08	50259050	55861581	79144935	17	28198											
MYLK3	91807	broad.mit.edu	37	chr16	46766546	46766546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtcatcagcatctcccCaggagtatccatctcttgta	7	14	4	0			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:46766546C>T	ENST00000394809.4	-	4	1151	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	MYLK3_ENST00000536476.1_Missense_Mutation_p.G5R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	346					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCATCTCCCCAGGAGTATCC	0.607																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1036-1038)Ggg>Agg		myosin light chain kinase 3							20	15	17					16																	46766546		2011	4016	6027	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46766546C>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1036G>A	16.37:g.46766546C>T	ENSP00000378288:p.Gly346Arg					MYLK3_ENST00000536476.1_Missense_Mutation_p.G5R	p.G346R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			4	1151	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	346					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1036G>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	9.418	1.082352	0.20309	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.68765	-0.35;-0.35	5.51	3.57	0.40892	.	0.470755	0.15827	N	0.242698	T	0.51635	0.1686	L	0.34521	1.04	0.32663	N	0.517819	B;B	0.24533	0.105;0.105	B;B	0.20184	0.028;0.028	T	0.54153	-0.8336	10	0.30078	T	0.28	.	8.1388	0.31071	0.0:0.8171:0.0:0.1829	.	346;346	B5BUL9;Q32MK0	.;MYLK3_HUMAN	R	346;5	ENSP00000378288:G346R;ENSP00000439297:G5R	ENSP00000378288:G346R	G	-	1	0	MYLK3	45324047	0.104000	0.21937	0.653000	0.29593	0.055000	0.15305	0.836000	0.27545	0.685000	0.31468	0.655000	0.94253	GGG		0.607	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		8	12	0	0	0	1	0	8	12					T	46766546	C	T	46766546	3	4	235	1	0	0	0	0	1	0	0	0	10058	594	21	2	1463	2	MYLK3	16	46766546	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46766546	43588207	18	28199											
PLCG2	5336	broad.mit.edu	37	chr16	81927341	81927341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtgaccagctgcggagCgagtcgtccccagaagctta	13	12	0	2	rs200149635		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:81927341C>T	ENST00000359376.3	+	12	1228	c.1014C>T	c.(1012-1014)agC>agT	p.S338S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	338	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCGGAGCGAGTCGTCCC	0.617																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1012-1014)agC>agT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							60	63	62					16																	81927341		2162	4279	6441	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81927341C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1014C>T	16.37:g.81927341C>T							p.S338S	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			12	1228	+			338			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1014C>T	CCDS42204.1																																																																																				0.617	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			4	54	0	0	0	1	0	4	54					T	81927341	C	T	81927341	2	4	235	1	0	0	0	0	0	0	0	1	12036	767	27	1		1	PLCG2	16	81927341	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	35160795	81927341	8427412	19	28200											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	5	15	2	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000420246.2_Missense_Mutation_p.G266R	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(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						c.(796-798)Gga>Aga	Other conserved DNA damage response genes	tumor protein p53							49	44	46					17																	7577142		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577142C>T	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.796G>A	17.37:g.7577142C>T	ENSP00000269305:p.Gly266Arg	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)				TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R	p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.796G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	4	0	0	0	1	0	17	4					T	7577142	C	T	7577142	3	4	235	1	0	0	0	0	1	0	0	0	16378	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		7577142	73618068	20	28201											
EIF4A3	9775	broad.mit.edu	37	chr17	78117984	78117984	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacttactgtgcgatgacatCtctccctttgatgatctgct	7	11	2	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:78117984C>G	ENST00000269349.3	-	2	450	c.229G>C	c.(229-231)Gat>Cat	p.D77H		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	77	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|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)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(229-231)Gat>Cat		eukaryotic translation initiation factor 4A3							188	133	151					17																	78117984		2203	4300	6503	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78117984C>G	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"DEAD-boxes"	18683	protein-coding gene	gene with protein product		608546	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 48", "eukaryotic translation initiation factor 4A, isoform 3"	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.229G>C	17.37:g.78117984C>G	ENSP00000269349:p.Asp77His						p.D77H	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	450	-	all_neural(118;0.117)		77			Helicase ATP-binding.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.229G>C	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	c	17.71	3.456904	0.63401	.	.	ENSG00000141543	ENST00000269349	T	0.24350	1.86	5.59	4.62	0.57501	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.045624	0.85682	D	0.000000	T	0.58963	0.2159	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68853	-0.5299	10	0.87932	D	0	11.3701	12.2676	0.54686	0.0:0.9169:0.0:0.0831	.	77	P38919	IF4A3_HUMAN	H	77	ENSP00000269349:D77H	ENSP00000269349:D77H	D	-	1	0	EIF4A3	75732579	1.000000	0.71417	0.359000	0.25824	0.545000	0.35147	7.167000	0.77562	1.354000	0.45846	0.650000	0.86243	GAT		0.473	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		5	63	0	0	0	1	0	5	63					G	78117984	C	G	78117984	3	3	235	1	0	0	0	0	1	0	0	0	5026	913	32	4	1050	4	EIF4A3	17	78117984	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	70540842	78117984	3077226	21	28202											
NUMBL	9253	broad.mit.edu	37	chr19	41173875	41173877	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaggctgcttgctgctgtTgctgctgctgctgctgctgc							TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr19:41173875_41173877delTGC	ENST00000252891.4	-	10	1493_1495	c.1326_1328delGCA	c.(1324-1329)cagcaa>caa	p.442_443QQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.401_402QQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.401_402QQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	442	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.66																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1324-1329)caa>ca		numb homolog (Drosophila)-like																																				SO:0001651	inframe_deletion	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173875_41173877delTGC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1326_1328delGCA	19.37:g.41173884_41173886delTGC	ENSP00000252891:p.Gln446del					NUMBL_ENST00000598779.1_In_Frame_Del_p.QQ403del|NUMBL_ENST00000540131.1_In_Frame_Del_p.QQ403del	p.QQ444del	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1493_1495	-			444			Poly-Gln.		Q7Z4J9	In_Frame_Del	DEL	ENST00000252891.4	37	c.1326_1328delGCA	CCDS12561.1																																																																																				0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		3	6						3	6	---	---	---	---	-	41173877	TGC	-	41173875	7	5	235	1	0	1	0	1	0	0	0	0	10752	1812	63	0	505	0	NUMBL	19	41173875	In_Frame_Del	DEL	TGC	TCGA-HT-7472-01A-11D-2024-08		41173875	17955108	22	28203											
NCOA3	8202	broad.mit.edu	37	chr20	46267764	46267764	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcaacaggtttgaaaagttCacagtctgtgcagtctattc	8	8	4	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr20:46267764C>G	ENST00000371998.3	+	14	2716	c.2525C>G	c.(2524-2526)tCa>tGa	p.S842*	NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000372004.3_Nonsense_Mutation_p.S842*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S852*			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	842					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTGAAAAGTTCACAGTCTGTG	0.388																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2524-2526)tCa>tGa		nuclear receptor coactivator 3							120	114	116					20																	46267764		2203	4300	6503	SO:0001587	stop_gained	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46267764C>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2525C>G	20.37:g.46267764C>G	ENSP00000361066:p.Ser842*					NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S852*|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S842*|NCOA3_ENST00000341724.6_Intron	p.S842*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			14	2741	+			842					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Nonsense_Mutation	SNP	ENST00000371998.3	37	c.2525C>G	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	40	8.287503	0.98745	.	.	ENSG00000124151	ENST00000340189;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	5.35	4.41	0.53225	.	0.234635	0.37437	N	0.002087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-4.0561	13.8635	0.63574	0.0:0.9262:0.0:0.0738	.	.	.	.	X	842;842;842;852	.	ENSP00000345671:S842X	S	+	2	0	NCOA3	45701171	1.000000	0.71417	0.972000	0.41901	0.910000	0.53928	5.038000	0.64177	1.258000	0.44101	0.460000	0.39030	TCA		0.388	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		40	59	0	0	0	1	0	40	59					G	46267764	C	G	46267764	4	3	235	1	0	0	0	0	0	1	0	0	10230	838	29	4	2601	4	NCOA3	20	46267764	Nonsense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46267764	16757756	23	28204											
POLR3H	171568	broad.mit.edu	37	chr22	41936719	41936719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctttggtgtgtgatgcGccatccccagggaatacata	10	12	0	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr22:41936719G>A	ENST00000355209.4	-	2	535	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_ENST00000337566.5_Silent_p.G64G|POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000396504.2_Silent_p.G64G|POLR3H_ENST00000407461.1_Silent_p.G64G	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	64					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|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 initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.G64G(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502																																						ENST00000355209.4																			2	Substitution - coding silent(2)	p.G64G(2)	lung(2)	breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						c.(190-192)ggC>ggT		polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)							176	126	143					22																	41936719		2203	4300	6503	SO:0001819	synonymous_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41936719G>A	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"RNA polymerase subunits"	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.192C>T	22.37:g.41936719G>A						POLR3H_ENST00000407461.1_Silent_p.G64G|POLR3H_ENST00000396504.2_Silent_p.G64G|POLR3H_ENST00000337566.5_Silent_p.G64G|POLR3H_ENST00000420561.1_Intron	p.G64G	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN			2	535	-			64					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	c.192C>T	CCDS14018.1																																																																																				0.502	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		29	60	0	0	0	1	0	29	60					A	41936719	G	A	41936719	2	1	235	1	0	0	0	0	0	0	0	1	12236	1074	38	1		1	POLR3H	22	41936719	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08		41936719	9367847	24	28205											
BCOR	54880	broad.mit.edu	37	chrX	39934221	39934221	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccactgtctcgggtgtattCggtttgaactgcatctctgg	11	10	2	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:39934221C>G	ENST00000378444.4	-	4	606	c.378G>C	c.(376-378)ccG>ccC	p.P126P	BCOR_ENST00000378455.4_Silent_p.P126P|BCOR_ENST00000397354.3_Silent_p.P126P|BCOR_ENST00000342274.4_Silent_p.P126P	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	126					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						CGGGTGTATTCGGTTTGAACT	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(376-378)ccG>ccC		BCL6 corepressor							63	61	62					X																	39934221		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934221C>G	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.378G>C	X.37:g.39934221C>G						BCOR_ENST00000378444.4_Silent_p.P126P|BCOR_ENST00000378455.4_Silent_p.P126P|BCOR_ENST00000397354.3_Silent_p.P126P	p.P126P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	740	-			126					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.378G>C	CCDS48093.1																																																																																				0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		15	11	0	0	0	1	0	15	11					G	39934221	C	G	39934221	2	3	235	1	0	0	0	0	0	0	0	1	1386	871	31	4		4	BCOR	23	39934221	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08		39934221	115336339	25	28206											
ATRX	546	broad.mit.edu	37	chrX	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													aagcaacttgcaccttttctTctctctaccatatgctccat							TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:76937477_76937480delTCTC	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.EK1090fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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						CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3268-3273)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937477_76937480delTCTC	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.3268_3271delGAGA	X.37:g.76937477_76937480delTCTC	ENSP00000362441:p.Glu1090fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	p.EK1090fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3482_3485	-			1090					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3268_3271delGAGA	CCDS14434.1																																																																																				0.377	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		114	74						114	74	---	---	---	---	-	76937480	TCTC	-	76937477	7	5	235	1	0	1	0	1	0	0	0	0	1208	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7472-01A-11D-2024-08	37003256	76937477	78333083	26	28207											
RYR2	6262	broad.mit.edu	37	chr1	237753198	237753198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctgtggcttacaagaggGctatgaaccatttgccgtta	10	9	1	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:237753198G>T	ENST00000366574.2	+	30	4021	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1235	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)			TTACAAGAGGGCTATGAACCA	0.433																																						ENST00000366574.2																			0				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						c.(3703-3705)gGc>gTc		ryanodine receptor 2 (cardiac)							113	109	111					1																	237753198		1918	4124	6042	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753198G>T	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.3704G>T	1.37:g.237753198G>T	ENSP00000355533:p.Gly1235Val					RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	p.G1235V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	4021	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1235			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3704G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	18.67	3.674392	0.67928	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98150	-4.75;-4.74;-4.74	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	D	0.97195	0.9083	M	0.78049	2.395	0.80722	D	1	B	0.20671	0.047	B	0.16722	0.016	D	0.95182	0.8300	10	0.87932	D	0	.	19.3668	0.94466	0.0:0.0:1.0:0.0	.	1235	Q92736	RYR2_HUMAN	V	1235;1233;1219	ENSP00000355533:G1235V;ENSP00000353174:G1233V;ENSP00000443798:G1219V	ENSP00000353174:G1233V	G	+	2	0	RYR2	235819821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.564000	0.86499	0.650000	0.86243	GGC		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	32	1	0	0.184627	1	0.195817	4	32					T	237753198	G	T	237753198	3	4	236	1	0	0	0	0	1	0	0	0	13769	1203	42	4	3822	4	RYR2	1	237753198	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		237753198	11497423	1	28208											
SSB	6741	broad.mit.edu	37	chr2	170665016	170665016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattactttgccaaaaaaaaTgaagaaagaaaacaaaataa	5	4	0	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	ENST00000409333.1	+	7	826	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_ENST00000260956.4_Missense_Mutation_p.N193K			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	193					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCAAAAAAAATGAAGAAAGAA	0.318																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(577-579)aaT>aaA		Sjogren syndrome antigen B (autoantigen La)							80	82	81					2																	170665016		2203	4300	6503	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665016T>A		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.579T>A	2.37:g.170665016T>A	ENSP00000386636:p.Asn193Lys					SSB_ENST00000260956.4_Missense_Mutation_p.N193K	p.N193K			P05455	LA_HUMAN			7	826	+			193					Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.579T>A	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	T	8.511	0.866482	0.17250	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333;ENST00000544688	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	.	0.196836	0.53938	D	0.000053	T	0.31136	0.0787	L	0.43152	1.355	0.50813	D	0.999895	P;B	0.37423	0.594;0.394	B;B	0.33454	0.164;0.164	T	0.12967	-1.0527	10	0.06099	T	0.92	-25.8	15.1124	0.72368	0.0:0.0:0.0:1.0	.	193;193	E9PFH8;P05455	.;LA_HUMAN	K	193;193;193;52	ENSP00000260956:N193K;ENSP00000386636:N193K	ENSP00000260956:N193K	N	+	3	2	SSB	170373262	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.434000	0.44802	2.222000	0.72286	0.383000	0.25322	AAT		0.318	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		8	41	0	0	0	1	0	8	41					A	170665016	T	A	170665016	3	1	236	1	0	0	0	0	1	0	0	0	15177	1461	51	5	601	5	SSB	2	170665016	Missense_Mutation	SNP	T	TCGA-HT-7473-01A-11D-2024-08		170665016	72534357	2	28209											
INO80D	54891	broad.mit.edu	37	chr2	206921218	206921218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgaaccctgcggtggcGctggaggttttaaagaagta	14	7	0	3	rs371646344		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	ENST00000403263.1	-	4	1072	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	223					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCGGTGGCGCTGGAGGTTT	0.562																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(667-669)gCg>gTg		INO80 complex subunit D		G	VAL/ALA	0,4162		0,0,2081	64	68	67		668	3.9	1	2		67	1,8459		0,1,4229	no	missense	INO80D	NM_017759.4	64	0,1,6310	AA,AG,GG		0.0118,0.0,0.0079	benign	223/1028	206921218	1,12621	2081	4230	6311	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921218G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.668C>T	2.37:g.206921218G>A	ENSP00000384198:p.Ala223Val						p.A223V	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			4	1072	-			223					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.668C>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158055	0.38119	0.0	1.18E-4	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32272	1.49;1.46	5.84	3.92	0.45320	.	0.464964	0.25369	N	0.031164	T	0.17023	0.0409	N	0.08118	0	0.35457	D	0.796177	B	0.17667	0.023	B	0.10450	0.005	T	0.10823	-1.0613	10	0.17832	T	0.49	.	16.1163	0.81306	0.0:0.4173:0.5827:0.0	.	223	Q53TQ3-2	.	V	223;223;118	ENSP00000384198:A223V;ENSP00000402369:A118V	ENSP00000233270:A223V	A	-	2	0	INO80D	206629463	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.630000	0.46494	1.459000	0.47892	0.655000	0.94253	GCG		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		7	16	0	0	0	1	0	7	16					A	206921218	G	A	206921218	3	1	236	1	0	0	0	0	1	0	0	0	7749	1087	38	1	2447	1	INO80D	2	206921218	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	36256202	206921218	36278155	3	28210											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	37	0	0	0	1	0	26	37					T	209113112	C	T	209113112	3	4	236	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	2191894	209113112	34086261	4	28211											
TBX18	9096	broad.mit.edu	37	chr6	85448225	85448225	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttaccttgcttgggAattccagggatatcttcaaa	10	7	2	1			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	ENST00000369663.5	-	7	1426	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_ENST00000606784.1_Silent_p.I205I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	363					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1087-1089)atT>atA		T-box 18							219	207	211					6																	85448225		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85448225A>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1089T>A	6.37:g.85448225A>T						TBX18_ENST00000606784.1_Silent_p.I205I	p.I363I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1426	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	363					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1089T>A	CCDS34495.1																																																																																				0.438	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		66	122	0	0	0	1	0	66	122					T	85448225	A	T	85448225	2	4	236	1	0	0	0	0	0	0	0	1	15650	242	9	5		5	TBX18	6	85448225	Silent	SNP	A	TCGA-HT-7473-01A-11D-2024-08		85448225	85666842	5	28212											
TTYH3	80727	broad.mit.edu	37	chr7	2696109	2696109	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctggccctcttctccttcgtCacagccctcatgttcagctc	6	18	5	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	ENST00000258796.7	+	11	1396	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_ENST00000407643.1_Silent_p.V365V|TTYH3_ENST00000403167.1_Silent_p.V226V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	397					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1189-1191)gtC>gtG		tweety family member 3							97	85	89					7																	2696109		2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2696109C>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1191C>G	7.37:g.2696109C>G						TTYH3_ENST00000403167.1_Silent_p.V226V|TTYH3_ENST00000407643.1_Silent_p.V365V	p.V397V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	11	1396	+		Ovarian(82;0.0112)	397					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.1191C>G	CCDS34588.1																																																																																				0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		11	91	0	0	0	1	0	11	91					G	2696109	C	G	2696109	2	3	236	1	0	0	0	0	0	0	0	1	16738	813	29	4		4	TTYH3	7	2696109	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		2696109	156442554	6	28213											
CALCR	799	broad.mit.edu	37	chr7	93072938	93072938	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaagagataataccaCcgcaagcgttgcttctcagt	8	13	1	1	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	ENST00000394441.1	-	8	1095	c.780G>C	c.(778-780)cgG>cgC	p.R260R	CALCR_ENST00000360249.4_Silent_p.R276R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000359558.2_Silent_p.R294R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R260R(1)|p.R294R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443																																						ENST00000359558.2																			2	Substitution - coding silent(2)	p.R260R(1)|p.R294R(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(880-882)cgG>cgC		calcitonin receptor	Salmon Calcitonin(DB00017)						118	111	113					7																	93072938		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93072938C>G	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.780G>C	7.37:g.93072938C>G						CALCR_ENST00000360249.4_Silent_p.R276R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000394441.1_Silent_p.R260R	p.R294R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		11	1181	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		276					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.882G>C	CCDS5631.1																																																																																				0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		24	58	0	0	0	1	0	24	58					G	93072938	C	G	93072938	2	3	236	1	0	0	0	0	0	0	0	1	2579	494	18	4		4	CALCR	7	93072938	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08	90376829	93072938	66065725	7	28214											
AGFG2	3268	broad.mit.edu	37	chr7	100137017	100137018	+	Frame_Shift_Ins	INS	-	-	G													gcccgggcggcggggtcagcINSgggggcaaggcggaggcgga							TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:100137017_100137018insG	ENST00000300176.4	+	1	170_171	c.48_49insG	c.(49-51)gggfs	p.G17fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.G17fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	17					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						gcggggtcagcgggggcaaggc	0.733																																						ENST00000300176.4																			0				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						c.(46-51)agggggfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100137017_100137018insG	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.53dupG	7.37:g.100137022_100137022dupG	ENSP00000300176:p.Gly17fs					AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.RG16fs	p.RG16fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			1	170_171	+			16					O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.48_49insG	CCDS5697.1																																																																																				0.733	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		2	4						2	4	---	---	---	---	G	100137018	-	G	100137017	7	5	236	1	0	1	1	0	0	0	0	0	381	767	27	0	50	0	AGFG2	7	100137017	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08	7064079	100137017	59001646	8	28215											
FLJ46321	389763	broad.mit.edu	37	chr9	84608693	84608693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtagacgaagtcagtcagaAacagactgtactggccagta	11	9	2	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr9:84608693A>G	ENST00000344803.2	+	4	3355	c.3308A>G	c.(3307-3309)aAa>aGa	p.K1103R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1103					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCAGTCAGAAACAGACTGTA	0.493																																						ENST00000344803.2																			0											c.(3307-3309)aAa>aGa		SPATA31 subfamily D, member 1							55	56	56					9																	84608693		1956	4157	6113	SO:0001583	missense	389763							g.chr9:84608693A>G		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.3308A>G	9.37:g.84608693A>G	ENSP00000341988:p.Lys1103Arg						p.K1103R	NM_001001670.2	NP_001001670.1					4	3355	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3308A>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.773393	0.00640	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	2.31	-1.87	0.07737	.	.	.	.	.	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.48258	-0.9051	9	0.15952	T	0.53	-0.1768	2.877	0.05634	0.4514:0.2424:0.3062:0.0	.	1103	Q6ZQQ2	F75D1_HUMAN	R	1103	ENSP00000341988:K1103R	ENSP00000341988:K1103R	K	+	2	0	FAM75D1	83798513	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.172000	0.01266	-0.350000	0.08262	-0.397000	0.06425	AAA		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	39	0	0	0	1	0	15	39					G	84608693	A	G	84608693	3	3	236	1	0	0	0	0	1	0	0	0	5932	14	1	3	3322	3	FLJ46321	9	84608693	Missense_Mutation	SNP	A	TCGA-HT-7473-01A-11D-2024-08		84608693	56604738	9	28216											
DMBT1	1755	broad.mit.edu	37	chr10	124390734	124390734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccactctctggcagtgcCggaaccgaggctggttctcc	11	14	2	0	rs369082605		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	ENST00000338354.3	+	46	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1966W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1966	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)				CTGGCAGTGCCGGAACCGAGG	0.542																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5896-5898)Cgg>Tgg		deleted in malignant brain tumors 1		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4083		0,1,2041	152	149	150		4012,5896,5866	0.1	0	10		150	0,8384		0,0,4192	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	101,101,101	0,1,6233	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging,probably-damaging,probably-damaging	1338/1786,1966/2414,1956/2404	124390734	1,12467	2042	4192	6234	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390734C>T		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.5896C>T	10.37:g.124390734C>T	ENSP00000342210:p.Arg1966Trp					DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1966W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W	p.R1966W	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			46	6002	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1966			SRCR 14.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5896C>T		.	.	.	.	.	.	.	.	.	.	C	15.08	2.728344	0.48833	2.45E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.56	0.0554	0.14315	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.53738	0.1815	M	0.66439	2.03	0.09310	N	1	D;P;B;P;B;D;P	0.89917	1.0;0.5;0.055;0.763;0.047;0.999;0.607	D;B;B;B;B;D;B	0.76575	0.972;0.066;0.007;0.326;0.005;0.988;0.17	T	0.38585	-0.9654	9	0.59425	D	0.04	.	2.9609	0.05891	0.1149:0.5176:0.112:0.2555	.	686;1946;1215;2095;1338;1956;1966	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	W	1966;2095;1966;1966;1966;1966;1338;1956;1338;1338;1966;1956;1338;112;686	ENSP00000342210:R1966W;ENSP00000343175:R1956W;ENSP00000327747:R1338W;ENSP00000357905:R1966W;ENSP00000357951:R1956W;ENSP00000357952:R1338W;ENSP00000352593:R686W	ENSP00000331522:R1338W	R	+	1	2	DMBT1	124380724	0.000000	0.05858	0.042000	0.18584	0.834000	0.47266	-0.730000	0.04915	0.268000	0.21939	0.650000	0.86243	CGG		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		29	31	0	0	0	1	0	29	31					T	124390734	C	T	124390734	3	4	236	1	0	0	0	0	1	0	0	0	4577	643	23	1	6078	1	DMBT1	10	124390734	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		124390734	11144013	10	28217											
NLRP6	171389	broad.mit.edu	37	chr11	281637	281637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggaggacgcgtttgtgCgccaagccctgtgccggttc	15	13	0	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	ENST00000312165.5	+	4	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_ENST00000534750.1_Missense_Mutation_p.R635C	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	635					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)		CGCGTTTGTGCGCCAAGCCCT	0.647																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1903-1905)Cgc>Tgc		NLR family, pyrin domain containing 6							95	105	102					11																	281637		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281637C>T	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.1903C>T	11.37:g.281637C>T	ENSP00000309767:p.Arg635Cys					NLRP6_ENST00000312165.5_Missense_Mutation_p.R635C	p.R635C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		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)	4	2108	+		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)	635					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1903C>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267121	0.23136	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.54479	0.57;0.57	2.93	-1.78	0.07957	.	0.860575	0.09458	N	0.799428	T	0.54581	0.1867	M	0.77103	2.36	0.37920	D	0.931665	D;D	0.71674	0.998;0.997	P;P	0.50754	0.505;0.649	T	0.61392	-0.7072	10	0.72032	D	0.01	.	1.415	0.02299	0.3737:0.3213:0.1835:0.1215	.	635;635	E9PJZ8;P59044	.;NALP6_HUMAN	C	635	ENSP00000433617:R635C;ENSP00000309767:R635C	ENSP00000309767:R635C	R	+	1	0	NLRP6	271637	0.000000	0.05858	0.162000	0.22713	0.773000	0.43773	-1.027000	0.03592	-0.358000	0.08162	0.462000	0.41574	CGC		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		31	81	0	0	0	1	0	31	81					T	281637	C	T	281637	3	4	236	1	0	0	0	0	1	0	0	0	10481	768	27	1	1917	1	NLRP6	11	281637	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		281637	134724879	11	28218											
EXPH5	23086	broad.mit.edu	37	chr11	108381471	108381471	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgtgtttaactgaagatCtattttccccctttactagg	6	9	2	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	ENST00000265843.4	-	6	4873	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1588					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)		AACTGAAGATCTATTTTCCCC	0.423																																						ENST00000265843.4																			0				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						c.(4762-4764)aGa>aTa		exophilin 5							181	166	171					11																	108381471		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381471C>A		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.4763G>T	11.37:g.108381471C>A	ENSP00000265843:p.Arg1588Ile					EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I	p.R1588I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	6	4873	-		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)	1588					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4763G>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548378	0.45383	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.06608	3.51;3.43;3.28;3.51;3.29	5.96	3.04	0.35103	.	0.160364	0.45126	D	0.000392	T	0.14614	0.0353	M	0.66939	2.045	0.44309	D	0.997188	D	0.63046	0.992	P	0.56648	0.803	T	0.00681	-1.1612	10	0.49607	T	0.09	-6.243	7.9227	0.29857	0.0:0.728:0.132:0.14	.	1588	Q8NEV8	EXPH5_HUMAN	I	1588;1512;1400;1581;1512	ENSP00000265843:R1588I;ENSP00000391966:R1512I;ENSP00000411390:R1400I;ENSP00000432546:R1581I;ENSP00000432683:R1512I	ENSP00000265843:R1588I	R	-	2	0	EXPH5	107886681	0.967000	0.33354	0.002000	0.10522	0.004000	0.04260	1.229000	0.32600	0.397000	0.25310	0.655000	0.94253	AGA		0.423	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		40	96	1	0	1.15505e-17	1	1.39402e-17	40	96					A	108381471	C	A	108381471	3	1	236	1	0	0	0	0	1	0	0	0	5322	913	32	4	1210	4	EXPH5	11	108381471	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	108099834	108381471	26625045	12	28219											
CRADD	8738	broad.mit.edu	37	chr12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatccgttggcggcagcGcttcgggaagcaggccacct	13	14	1	0	rs141179774		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.001	False		,,,				2504	0.0					ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(508-510)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain		G	HIS/ARG	0,4406		0,0,2203	47	44	45		509	4.7	1	12	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CRADD	NM_003805.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	170/200	94243956	2,13004	2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94243956G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.509G>A	12.37:g.94243956G>A	ENSP00000439068:p.Arg170His					CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H	p.R170H			P78560	CRADD_HUMAN			3	827	+			170			Death.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.509G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581119	0.86748	0.0	2.33E-4	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.86865	-2.18;-2.18	5.76	4.69	0.59074	Death (3);DEATH-like (2);	0.275697	0.37261	N	0.002177	D	0.88291	0.6397	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.49597	0.616	D	0.89748	0.3938	10	0.87932	D	0	-17.7443	15.6915	0.77457	0.0762:0.0:0.9238:0.0	.	170	P78560	CRADD_HUMAN	H	170	ENSP00000327647:R170H;ENSP00000439068:R170H	ENSP00000327647:R170H	R	+	2	0	CRADD	92768087	0.993000	0.37304	0.997000	0.53966	0.967000	0.64934	2.179000	0.42528	2.724000	0.93272	0.563000	0.77884	CGC		0.637	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		22	27	0	0	0	1	0	22	27					A	94243956	G	A	94243956	3	1	236	1	0	0	0	0	1	0	0	0	3845	1087	38	1	515	1	CRADD	12	94243956	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		94243956	39607939	13	28220											
LRRC43	254050	broad.mit.edu	37	chr12	122685392	122685392	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctggtgatcctggagCccctgctcgccggggagccc	17	15	0	1	rs374268516		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	ENST00000339777.4	+	10	1748	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	574										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1720-1722)Ccc>Acc		leucine rich repeat containing 43							27	34	31					12																	122685392		1962	4128	6090	SO:0001583	missense	254050							g.chr12:122685392C>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1720C>A	12.37:g.122685392C>A	ENSP00000344233:p.Pro574Thr					LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T	p.P574T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1748	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		574					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1720C>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069721	0.36470	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55760	0.5;0.93	5.31	3.18	0.36537	.	0.501537	0.21091	N	0.080310	T	0.42877	0.1222	M	0.62723	1.935	0.26831	N	0.968579	B	0.26708	0.157	B	0.24006	0.05	T	0.27191	-1.0081	10	0.27082	T	0.32	-26.7593	4.7911	0.13248	0.2743:0.5497:0.0:0.176	.	574	Q8N309	LRC43_HUMAN	T	574;445;389	ENSP00000344233:P574T;ENSP00000416628:P389T	ENSP00000289014:P445T	P	+	1	0	LRRC43	121251345	0.086000	0.21541	1.000000	0.80357	0.269000	0.26545	-0.205000	0.09411	1.062000	0.40625	0.650000	0.86243	CCC		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		26	36	1	0	4.72057e-08	1	5.50733e-08	26	36					A	122685392	C	A	122685392	3	1	236	1	0	0	0	0	1	0	0	0	9001	739	26	4	1758	4	LRRC43	12	122685392	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	28441436	122685392	11166503	14	28221											
VPS18	57617	broad.mit.edu	37	chr15	41192203	41192203	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccacgtgcaacgggaggcccGagatgtctggcgcacctatc	13	14	1	1			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr15:41192203G>T	ENST00000220509.5	+	4	1526	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	396					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)		CGGGAGGCCCGAGATGTCTGG	0.627																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1186-1188)cGa>cTa		vacuolar protein sorting 18 homolog (S. cerevisiae)							76	78	77					15																	41192203		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192203G>T	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.1187G>T	15.37:g.41192203G>T	ENSP00000220509:p.Arg396Leu					VPS18_ENST00000558474.1_Intron	p.R396L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1526	+		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)	396					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1187G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451608	0.84209	.	.	ENSG00000104142	ENST00000220509	T	0.20738	2.05	5.06	5.06	0.68205	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59947	-0.7358	10	0.62326	D	0.03	-33.9789	18.7973	0.91999	0.0:0.0:1.0:0.0	.	396	Q9P253	VPS18_HUMAN	L	396	ENSP00000220509:R396L	ENSP00000220509:R396L	R	+	2	0	VPS18	38979495	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.813000	0.99286	2.517000	0.84864	0.561000	0.74099	CGA		0.627	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			4	93	1	0	1	1	1	4	93					T	41192203	G	T	41192203	3	4	236	1	0	0	0	0	1	0	0	0	17191	1058	37	4	1201	4	VPS18	15	41192203	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		41192203	61339189	15	28222											
ZZEF1	23140	broad.mit.edu	37	chr17	3999148	3999148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttacaaattgcctgagCtcctgaagcttccatttgtc	6	11	0	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:3999148C>A	ENST00000381638.2	-	11	2014	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	630							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGCCTGAGCTCCTGAAGCT	0.333																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1888-1890)gaG>gaT		zinc finger, ZZ-type with EF-hand domain 1							70	72	72					17																	3999148		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3999148C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1890G>T	17.37:g.3999148C>A	ENSP00000371051:p.Glu630Asp					ZZEF1_ENST00000574474.1_5'UTR	p.E630D	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			11	2014	-			630					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1890G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807914	0.31961	.	.	ENSG00000074755	ENST00000381638	T	0.20069	2.1	6.17	-6.31	0.02001	.	0.148371	0.64402	D	0.000011	T	0.07324	0.0185	N	0.04880	-0.145	0.25804	N	0.984473	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.28106	-1.0054	10	0.19147	T	0.46	-23.55	11.8114	0.52185	0.0:0.4443:0.109:0.4467	.	630;630	O43149-3;O43149	.;ZZEF1_HUMAN	D	630	ENSP00000371051:E630D	ENSP00000371051:E630D	E	-	3	2	ZZEF1	3945897	0.150000	0.22732	0.522000	0.27862	0.961000	0.63080	-0.663000	0.05299	-1.079000	0.03113	0.655000	0.94253	GAG		0.333	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	45	1	0	0.014758	1	0.0166622	4	45					A	3999148	C	A	3999148	3	1	236	1	0	0	0	0	1	0	0	0	18252	796	28	4	7175	4	ZZEF1	17	3999148	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		3999148	77196062	16	28223											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	5	0	0	0	1	0	17	5					A	7577121	G	A	7577121	3	1	236	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	3577973	7577121	73618089	17	28224											
KLHL14	57565	broad.mit.edu	37	chr18	30349853	30349853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggaagagcgccagctcCgactccacggggggcggcag	16	13	1	1	rs369667242		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	ENST00000359358.4	-	2	1140	c.702G>A	c.(700-702)tcG>tcA	p.S234S	AC012123.1_ENST00000426194.1_Silent_p.S27S|KLHL14_ENST00000358095.4_Silent_p.S234S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	234	BACK.					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						GCGCCAGCTCCGACTCCACGG	0.652																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(700-702)tcG>tcA		kelch-like family member 14		C		0,4406		0,0,2203	43	37	39		702	3.1	1	18		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL14	NM_020805.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		234/629	30349853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349853C>T	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.702G>A	18.37:g.30349853C>T						AC012123.1_ENST00000426194.1_Silent_p.S27S|KLHL14_ENST00000358095.4_Silent_p.S234S	p.S234S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1140	-			234			BACK.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.702G>A	CCDS32813.1																																																																																				0.652	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			15	22	0	0	0	1	0	15	22					T	30349853	C	T	30349853	2	4	236	1	0	0	0	0	0	0	0	1	8370	639	23	1		1	KLHL14	18	30349853	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		30349853	47727395	18	28225											
C19orf53	28974	broad.mit.edu	37	chr19	13888924	13888924	+	Missense_Mutation	SNP	G	G	A													cgtggtgatgaaagccagcaGcagcctgcccaagaagctgg							TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888924G>A	ENST00000588234.1	+	3	522	c.212G>A	c.(211-213)aGc>aAc	p.S71N	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGCCAGCAGCAGCCTGCCC	0.597																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(211-213)aGc>aAc		chromosome 19 open reading frame 53							88	85	86					19																	13888924		2203	4300	6503	SO:0001583	missense	28974							g.chr19:13888924G>A	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.212G>A	19.37:g.13888924G>A	ENSP00000465432:p.Ser71Asn					C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N	p.S71N	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	522	+			71					B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	c.212G>A	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841792	0.51057	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.99	-2.19	0.07015	.	0.889031	0.09680	N	0.769853	T	0.54967	0.1891	.	.	.	0.26583	N	0.973334	P	0.38711	0.643	P	0.48063	0.565	T	0.58989	-0.7538	8	0.42905	T	0.14	.	18.622	0.91324	0.0:0.4141:0.5859:0.0	.	71	Q9UNZ5	L10K_HUMAN	N	71	.	ENSP00000221576:S71N	S	+	2	0	C19orf53	13749924	0.238000	0.23825	0.179000	0.23059	0.964000	0.63967	-0.393000	0.07305	-0.488000	0.06726	0.485000	0.47835	AGC		0.597	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		4	72	0	0	0	1	0	4	72					A	13888924	G	A	13888924	3	1	236	1	0	0	0	0	1	0	0	0	1935	971	34	2	222	2	C19orf53	19	13888924	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		13888924	45240059	19	28226	134	2									
C19orf53	28974	broad.mit.edu	37	chr19	13888925	13888925	+	Missense_Mutation	SNP	C	C	A													gtggtgatgaaagccagcagCagcctgcccaagaagctggc							TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888925C>A	ENST00000588234.1	+	3	523	c.213C>A	c.(211-213)agC>agA	p.S71R	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAGCCAGCAGCAGCCTGCCCA	0.602																																						ENST00000588234.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(211-213)agC>agA		chromosome 19 open reading frame 53							87	84	85					19																	13888925		2203	4300	6503	SO:0001583	missense	28974							g.chr19:13888925C>A	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.213C>A	19.37:g.13888925C>A	ENSP00000465432:p.Ser71Arg					C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R	p.S71R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)		3	523	+			71					B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	c.213C>A	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898428	0.52227	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.99	1.51	0.23008	.	0.889031	0.09680	N	0.769853	T	0.55832	0.1945	.	.	.	0.30574	N	0.763235	P	0.45634	0.863	P	0.57204	0.815	T	0.55835	-0.8078	8	0.62326	D	0.03	.	5.5355	0.17009	0.1611:0.6601:0.0:0.1788	.	71	Q9UNZ5	L10K_HUMAN	R	71	.	ENSP00000221576:S71R	S	+	3	2	C19orf53	13749925	0.723000	0.28027	0.189000	0.23252	0.957000	0.61999	1.180000	0.32005	1.118000	0.41863	0.485000	0.47835	AGC		0.602	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		4	73	1	0	0.184627	1	0.195817	4	73					A	13888925	C	A	13888925	3	1	236	1	0	0	0	0	1	0	0	0	1935	709	25	4	223	4	C19orf53	19	13888925	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1	13888925	45240058	20	28227	134	2									
CYP4F3	4051	broad.mit.edu	37	chr19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcccgcaacccccgaaaCggaattggttcttgggtcac	10	13	2	0	rs138587161	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	ENST00000221307.8	+	2	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	57					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						ACCCCCGAAACGGAATTGGTT	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		16188	0.0		0.0	False		,,,				2504	0.002					ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(169-171)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 3		C	TRP/ARG,TRP/ARG,TRP/ARG	4,4402		0,4,2199	51	55	54		169,169,169	-3.6	0	19	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	101,101,101	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	57/521,57/521,57/521	15752394	4,13002	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15752394C>T	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.169C>T	19.37:g.15752394C>T	ENSP00000221307:p.Arg57Trp					CYP4F3_ENST00000586182.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W	p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			2	217	+			57					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.169C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397386	0.25205	9.08E-4	0.0	ENSG00000186529	ENST00000221307	D	0.88431	-2.38	3.9	-3.61	0.04556	.	0.389849	0.20343	U	0.094193	T	0.81422	0.4819	L	0.50333	1.59	0.09310	N	0.999998	B;B	0.23128	0.033;0.08	B;B	0.24269	0.032;0.052	T	0.70414	-0.4878	10	0.51188	T	0.08	.	6.8375	0.23945	0.5056:0.3975:0.0:0.0969	.	57;57	B7Z8Z3;Q08477	.;CP4F3_HUMAN	W	57	ENSP00000221307:R57W	ENSP00000221307:R57W	R	+	1	2	CYP4F3	15613394	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	-0.343000	0.07791	-0.186000	0.10533	-0.474000	0.04947	CGG		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		6	59	0	0	0	1	0	6	59					T	15752394	C	T	15752394	3	4	236	1	0	0	0	0	1	0	0	0	4190	527	19	1	171	1	CYP4F3	19	15752394	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1863469	15752394	43376589	21	28228											
PMEPA1	56937	broad.mit.edu	37	chr20	56284580	56284580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttgcacgtgcaggagAcattgggctgcccggcggcg	17	11	0	1			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:56284580A>G	ENST00000341744.3	-	1	378	c.59T>C	c.(58-60)gTc>gCc	p.V20A	PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	20					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGTGCAGGAGACATTGGGCTg	0.721																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(58-60)gTc>gCc		prostate transmembrane protein, androgen induced 1							30	26	27					20																	56284580		2179	4274	6453	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56284580A>G	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.59T>C	20.37:g.56284580A>G	ENSP00000345826:p.Val20Ala					PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000472841.1_Intron	p.V20A	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			1	378	-			20					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.59T>C	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513615	0.44763	.	.	ENSG00000124225	ENST00000341744;ENST00000395819	T;T	0.60797	0.91;0.16	3.04	3.04	0.35103	.	.	.	.	.	T	0.45796	0.1360	L	0.50333	1.59	0.80722	D	1	B	0.27117	0.168	B	0.27608	0.081	T	0.19943	-1.0290	9	0.10636	T	0.68	.	9.199	0.37246	1.0:0.0:0.0:0.0	.	20	Q969W9	PMEPA_HUMAN	A	20	ENSP00000345826:V20A;ENSP00000379164:V20A	ENSP00000345826:V20A	V	-	2	0	PMEPA1	55717986	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.327000	0.33746	1.030000	0.39839	0.147000	0.16070	GTC		0.721	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		2	4	0	0	0	1	0	2	4					G	56284580	A	G	56284580	3	3	236	1	0	0	0	0	1	0	0	0	12132	275	10	3	820	3	PMEPA1	20	56284580	Missense_Mutation	SNP	A	TCGA-HT-7473-01A-11D-2024-08		56284580	6740940	22	28229											
DGCR14	8220	broad.mit.edu	37	chr22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcctcatacagggtggcGggggctcccgggacatcttg	17	11	2	0	rs111488352	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													G|||	7	0.00139776	0.0008	0.0	5008	,	,		18280	0.0		0.006	False		,,,				2504	0.0					ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(295-297)cCg>cTg		DiGeorge syndrome critical region gene 14		G	LEU/PRO	11,4395	17.9+/-39.9	0,11,2192	75	78	77		296	3.2	0.6	22	dbSNP_132	77	93,8507	51.1+/-111.2	1,91,4208	yes	missense	DGCR14	NM_022719.2	98	1,102,6400	AA,AG,GG		1.0814,0.2497,0.7996	benign	99/477	19130247	104,12902	2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19130247G>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.296C>T	22.37:g.19130247G>A	ENSP00000252137:p.Pro99Leu						p.P99L	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			2	339	-	Colorectal(54;0.0993)		99					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.296C>T	CCDS13756.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	14.50	2.553078	0.45487	0.002497	0.010814	ENSG00000100056	ENST00000252137	T	0.23348	1.91	4.18	3.16	0.36331	.	0.390425	0.28883	N	0.013829	T	0.11922	0.0290	L	0.45051	1.395	0.26408	N	0.976302	P	0.48998	0.918	B	0.33521	0.165	T	0.10965	-1.0607	10	0.26408	T	0.33	-8.5837	11.7907	0.52068	0.0875:0.0:0.9125:0.0	.	99	Q96DF8	DGC14_HUMAN	L	99	ENSP00000252137:P99L	ENSP00000252137:P99L	P	-	2	0	DGCR14	17510247	0.993000	0.37304	0.569000	0.28460	0.522000	0.34438	2.879000	0.48522	0.985000	0.38656	-0.150000	0.13652	CCG		0.582	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			4	88	0	0	0	1	0	4	88					A	19130247	G	A	19130247	3	1	236	1	0	0	0	0	1	0	0	0	4460	1116	39	1	1170	1	DGCR14	22	19130247	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		19130247	32174319	23	28230											
ATRX	546	broad.mit.edu	37	chrX	76938452	76938453	+	Frame_Shift_Ins	INS	-	-	T													cccgcctgagtctttaaatcINSatacaaagtcttatggtttg							TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	ENST00000373344.5	-	9	2509_2510	c.2295_2296insA	c.(2293-2298)tatgatfs	p.D766fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D728fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	766					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						GTCTTTAAATCATACAAAGTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2293-2298)taatttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938452_76938453insT	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.2295_2296insA	X.37:g.76938452_76938453insT	ENSP00000362441:p.Asp766fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F728fs	p.F766fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2509_2510	-			766					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.2295_2296insA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		83	38						83	38	---	---	---	---	T	76938453	-	T	76938452	7	5	236	1	0	1	1	0	0	0	0	0	1208	826	29	0	5290	0	ATRX	23	76938452	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08		76938452	78332108	24	28231											
DOCK7	85440	broad.mit.edu	37	chr1	62959981	62959981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacaggaagatatttccGgtcctccagcatgctcaaat	7	13	1	1	rs76581585		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:62959981G>A	ENST00000340370.5	-	39	5106	c.5089C>T	c.(5089-5091)Cgg>Tgg	p.R1697W	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1719W	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1728	DHR-2.				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						AGATATTTCCGGTCCTCCAGC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19817	0.001		0.0	False		,,,				2504	0.0					ENST00000251157.5																			0				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						c.(5155-5157)Cgg>Tgg		dedicator of cytokinesis 7							88	75	79					1																	62959981		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62959981G>A		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.5089C>T	1.37:g.62959981G>A	ENSP00000340742:p.Arg1697Trp					DOCK7_ENST00000340370.5_Missense_Mutation_p.R1697W	p.R1719W	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			40	5188	-			1728			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.5155C>T	CCDS30734.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	19.27|19.27	3.796253|3.796253	0.70567|0.70567	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05786	.|3.39;3.39	5.99|5.99	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15652|0.15652	0.0377|0.0377	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.71674	.|0.997;0.998;0.997;0.997;0.998;0.997	.|P;D;P;P;D;D	.|0.63283	.|0.821;0.913;0.888;0.888;0.913;0.913	T|T	0.00920|0.00920	-1.1514|-1.1514	5|10	.|0.66056	.|D	.|0.02	.|.	15.6554|15.6554	0.77129|0.77129	0.0:0.0:0.7507:0.2493|0.0:0.0:0.7507:0.2493	.|.	.|1728;1719;1697;1688;1688;1719	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	L|W	890|1728;1719;1697;458	.|ENSP00000251157:R1719W;ENSP00000340742:R1697W	.|ENSP00000251157:R1719W	P|R	-|-	2|1	0|2	DOCK7|DOCK7	62732569|62732569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	3.364000|3.364000	0.52328|0.52328	1.528000|1.528000	0.49103|0.49103	-0.169000|-0.169000	0.13324|0.13324	CCG|CGG		0.428	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		3	46	0	0	0	0.004672	0	3	46					A	62959981	G	A	62959981	3	1	237	1	0	0	0	0	1	0	0	0	4692	1115	39	1	1284	1	DOCK7	1	62959981	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		62959981	186290640	1	28232											
TNN	63923	broad.mit.edu	37	chr1	175048764	175048764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagaagcgctgtcccggCgactgcagcggccacggctt	15	14	0	1	rs370138783		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	ENST00000239462.4	+	3	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	235	EGF-like 3.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(703-705)ggC>ggT		tenascin N							20	15	16					1																	175048764		2188	4284	6472	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048764C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.705C>T	1.37:g.175048764C>T							p.G235G	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	818	+		Breast(1374;0.000962)	235			EGF-like 3.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.705C>T	CCDS30943.1																																																																																				0.667	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		11	9	0	0	0	0.080935	0	11	9					T	175048764	C	T	175048764	2	4	237	1	0	0	0	0	0	0	0	1	16320	755	27	1		1	TNN	1	175048764	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	112088783	175048764	74201857	2	28233											
AFF3	3899	broad.mit.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-													ctggaggagctgctgctgccGctgctgctgctgctgctgct							TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1255-1257)del		AF4/FMR2 family, member 3			,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100218011_100218013delGCT	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del					AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del	p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			13	1490_1492	-			419			Poly-Ser.		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	c.1255_1257delAGC	CCDS42723.1																																																																																				0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	6						3	6	---	---	---	---	-	100218013	GCT	-	100218011	7	5	237	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-HT-7474-01A-11D-2024-08		100218011	142981362	3	28234											
SSB	6741	broad.mit.edu	37	chr2	170667377	170667377	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctggtataggggataattCtatttaaagaaaaagccaag	9	5	2	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	ENST00000409333.1	+	10	1067	c.820C>T	c.(820-822)Cta>Tta	p.L274L	SSB_ENST00000260956.4_Silent_p.L274L|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	274					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGATAATTCTATTTAAAGA	0.353																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(820-822)Cta>Tta		Sjogren syndrome antigen B (autoantigen La)							55	61	59					2																	170667377		2201	4300	6501	SO:0001819	synonymous_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667377C>T		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.820C>T	2.37:g.170667377C>T						METTL5_ENST00000409837.1_Intron|SSB_ENST00000260956.4_Silent_p.L274L	p.L274L			P05455	LA_HUMAN			10	1067	+			274					Q15367|Q53XJ4	Silent	SNP	ENST00000409333.1	37	c.820C>T	CCDS2237.1																																																																																				0.353	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		19	43	0	0	0	0.062417	0	19	43					T	170667377	C	T	170667377	2	4	237	1	0	0	0	0	0	0	0	1	15177	912	32	2		2	SSB	2	170667377	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	70449366	170667377	72531996	4	28235											
TTN	7273	broad.mit.edu	37	chr2	179569078	179569078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaattggcatgtcatggTgcaagtctggccttctttca	10	8	4	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	ENST00000591111.1	-	104	29292	c.29068A>G	c.(29068-29070)Acc>Gcc	p.T9690A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T10007A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13768	Ig-like 78.				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)			CATGTCATGGTGCAAGTCTGG	0.423																																						ENST00000589042.1																			0				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						c.(30019-30021)Acc>Gcc		titin							185	176	179					2																	179569078		1962	4162	6124	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569078T>C	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.29068A>G	2.37:g.179569078T>C	ENSP00000465570:p.Thr9690Ala					TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T9690A|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN_ENST00000460472.2_Intron	p.T10007A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30243	-			9690			Glu-rich.		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	ENST00000591111.1	37	c.30019A>G		.	.	.	.	.	.	.	.	.	.	T	12.54	1.967783	0.34754	.	.	ENSG00000155657	ENST00000342992	T	0.47869	0.83	5.99	4.82	0.62117	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	0.47358	0.1441	L	0.53780	1.695	0.80722	D	1	B	0.28128	0.201	B	0.35182	0.197	T	0.47799	-0.9089	9	0.87932	D	0	.	11.0812	0.48062	0.2469:0.0:0.0:0.7531	.	9690	Q8WZ42	TITIN_HUMAN	A	8763	ENSP00000343764:T8763A	ENSP00000343764:T8763A	T	-	1	0	TTN	179277323	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	3.982000	0.56909	1.065000	0.40693	0.533000	0.62120	ACC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	136	0	0	0	0.055883	0	21	136					C	179569078	T	C	179569078	3	2	237	1	0	0	0	0	1	0	0	0	16732	1696	59	3	74538	3	TTN	2	179569078	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	8901701	179569078	63630295	5	28236											
TTN	7273	broad.mit.edu	37	chr2	179641669	179641669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacatttactttgcatcttGtagtgtctctgccagcttta	6	10	2	0			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	ENST00000591111.1	-	28	5146	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K|TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|TTN_ENST00000589042.1_Missense_Mutation_p.T1641K|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12492	Ig-like 7.				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)			TTTGCATCTTGTAGTGTCTCT	0.463																																						ENST00000589042.1																			0				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						c.(4921-4923)aCa>aAa		titin							72	71	72					2																	179641669		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641669G>T	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.4922C>A	2.37:g.179641669G>T	ENSP00000465570:p.Thr1641Lys					TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T1641K|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K	p.T1641K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5146	-			1375			Ig-like 7.		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	ENST00000591111.1	37	c.4922C>A		.	.	.	.	.	.	.	.	.	.	G	13.41	2.229190	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78811	0.4342	M	0.64260	1.97	0.45477	D	0.998449	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.79572	-0.1748	9	0.87932	D	0	.	19.8713	0.96852	0.0:0.0:1.0:0.0	.	1595;1595;1595;1641;1641	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1641;1595;1595;1595;1595;1641	ENSP00000343764:T1641K;ENSP00000434586:T1595K;ENSP00000340554:T1595K;ENSP00000352154:T1595K;ENSP00000354117:T1641K	ENSP00000340554:T1595K	T	-	2	0	TTN	179349914	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	9.789000	0.99068	2.702000	0.92279	0.650000	0.86243	ACA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	56	1	0	0.000157383	0.038147	0.000170144	8	56					T	179641669	G	T	179641669	3	4	237	1	0	0	0	0	1	0	0	0	16732	1377	48	4	106406	4	TTN	2	179641669	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	72591	179641669	63557704	6	28237											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	39	0	0	0	0.069288	0	22	39					T	209113112	C	T	209113112	3	4	237	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	29471443	209113112	34086261	7	28238											
MTERFD2	130916	broad.mit.edu	37	chr2	242039161	242039161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagttattggatctaacaCaagataactcctcaatgacc	5	10	2	2	rs371634170		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	ENST00000391980.2	-	2	228	c.170G>A	c.(169-171)tGt>tAt	p.C57Y	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		57					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)		GGATCTAACACAAGATAACTC	0.498																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(169-171)tGt>tAt		MTERF domain containing 2		C	TYR/CYS	0,4406		0,0,2203	84	82	83		170	-8.8	0	2		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTERFD2	NM_182501.3	194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	57/382	242039161	1,13005	2203	4300	6503	SO:0001583	missense	130916							g.chr2:242039161C>T																												ENST00000391980.2:c.170G>A	2.37:g.242039161C>T	ENSP00000375840:p.Cys57Tyr					MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron	p.C57Y	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		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)	2	228	-		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)	57					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.170G>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.374483	0.01214	0.0	1.16E-4	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.45668	0.89;0.94;2.75;1.52;1.53;0.96	4.39	-8.78	0.00824	.	1.308000	0.05286	N	0.520287	T	0.16428	0.0395	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.28522	-1.0041	10	0.02654	T	1	-13.7043	2.5886	0.04837	0.3286:0.1292:0.3862:0.156	.	57;57	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	Y	57;57;57;50;57;36	ENSP00000419315:C57Y;ENSP00000385183:C57Y;ENSP00000375840:C57Y;ENSP00000409023:C50Y;ENSP00000385630:C57Y;ENSP00000393063:C36Y	ENSP00000241527:C57Y	C	-	2	0	MTERFD2	241687834	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.088000	0.01359	-1.515000	0.01784	-0.229000	0.12294	TGT		0.498	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			12	82	0	0	0	0.020292	0	12	82					T	242039161	C	T	242039161	3	4	237	1	0	0	0	0	1	0	0	0	9920	478	17	2	987	2	MTERFD2	2	242039161	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	32926049	242039161	1160212	8	28239											
GABRB1	2560	broad.mit.edu	37	chr4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcgaggcctacgggcGcgccctggaccggcacgggg	18	16	0	0			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	ENST00000295454.3	+	9	1539	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					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)	GCCTACGGGCGCGCCCTGGAC	0.642																																						ENST00000295454.3																			0				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						c.(1246-1248)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						41	46	44					4																	47427857		2202	4299	6501	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427857G>A		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.1247G>A	4.37:g.47427857G>A	ENSP00000295454:p.Arg416His					GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	p.R416H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1539	+			416					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1247G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506890	0.26949	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85484	-1.99;-1.99	5.38	4.54	0.55810	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.222175	0.37715	N	0.001962	T	0.80788	0.4690	L	0.48642	1.525	0.49299	D	0.99977	B;B	0.16802	0.019;0.004	B;B	0.12837	0.008;0.001	T	0.76361	-0.2987	10	0.36615	T	0.2	-8.6877	14.2138	0.65781	0.0714:0.0:0.9286:0.0	.	346;416	F5GXV5;P18505	.;GBRB1_HUMAN	H	416;346	ENSP00000295454:R416H;ENSP00000440330:R346H	ENSP00000295454:R416H	R	+	2	0	GABRB1	47122614	0.996000	0.38824	0.961000	0.40146	0.050000	0.14768	3.197000	0.51028	1.509000	0.48786	0.650000	0.86243	CGC		0.642	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			16	48	0	0	0	0.0333	0	16	48					A	47427857	G	A	47427857	3	1	237	1	0	0	0	0	1	0	0	0	6166	1087	38	1	1281	1	GABRB1	4	47427857	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		47427857	143726419	9	28240											
GK2	2712	broad.mit.edu	37	chr4	80327819	80327819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagactgactggtaacccaAcccattgacttcattacggc	9	12	1	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	ENST00000358842.3	-	1	1553	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		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						TGGTAACCCAACCCATTGACT	0.438																																						ENST00000358842.3																			0				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						c.(1534-1536)ggT>ggC		glycerol kinase 2							144	129	135					4																	80327819		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327819A>G	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.1536T>C	4.37:g.80327819A>G							p.G512G	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1553	-			512					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.1536T>C	CCDS3585.1																																																																																				0.438	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		27	77	0	0	0	0.030593	0	27	77					G	80327819	A	G	80327819	2	3	237	1	0	0	0	0	0	0	0	1	6421	30	2	3		3	GK2	4	80327819	Silent	SNP	A	TCGA-HT-7474-01A-11D-2024-08	32899962	80327819	110826457	10	28241											
OR2J3	442186	broad.mit.edu	37	chr6	29080500	29080500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcaaggcaagttcattgCcctcttttatactgttgtca	7	9	4	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	ENST00000377169.1	+	1	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	278						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(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGTTCATTGCCCTCTTTTAT	0.448																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(832-834)gCc>gTc		olfactory receptor, family 2, subfamily J, member 3							96	98	98					6																	29080500		1239	2540	3779	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080500C>T		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.833C>T	6.37:g.29080500C>T	ENSP00000366374:p.Ala278Val						p.A278V	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	833	+			278					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.833C>T	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213714	0.58452	.	.	ENSG00000204701	ENST00000377169	T	0.00202	8.56	3.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	M	0.64567	1.98	0.09310	N	0.999999	P	0.52316	0.952	P	0.56127	0.792	T	0.24693	-1.0153	9	0.87932	D	0	.	8.2793	0.31892	0.0:0.8825:0.0:0.1175	.	278	O76001	OR2J3_HUMAN	V	278	ENSP00000366374:A278V	ENSP00000366374:A278V	A	+	2	0	OR2J3	29188479	0.000000	0.05858	0.993000	0.49108	0.951000	0.60555	0.750000	0.26334	1.679000	0.50963	0.436000	0.28706	GCC		0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			4	55	0	0	0	0.009096	0	4	55					T	29080500	C	T	29080500	3	4	237	1	0	0	0	0	1	0	0	0	11004	739	26	2	835	2	OR2J3	6	29080500	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		29080500	142034567	11	28242											
NOTCH4	4855	broad.mit.edu	37	chr6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacccccatacctgtgcGtccaggtgggcagaggcagg	13	14	1	1	rs370312303		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding. {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						ATACCTGTGCGTCCAGGTGGG	0.592																																						ENST00000375023.3																			0				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						c.(1153-1155)Cgc>Tgc		notch 4		G	CYS/ARG	0,3022		0,0,1511	133	142	139		1153	4.4	1	6		139	1,5417		0,1,2708	no	missense	NOTCH4	NM_004557.3	180	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	probably-damaging	385/2004	32188188	1,8439	1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188188G>A		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.1153C>T	6.37:g.32188188G>A	ENSP00000364163:p.Arg385Cys						p.R385C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			6	1291	-			385			EGF-like 9; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1153C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493945	0.64186	0.0	1.85E-4	ENSG00000204301	ENST00000375023	D	0.91740	-2.9	4.36	4.36	0.52297	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.193071	0.25875	N	0.027725	D	0.94262	0.8157	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;B	0.63488	0.915;0.254	D	0.94793	0.7964	10	0.72032	D	0.01	.	14.4145	0.67139	0.0:0.0:1.0:0.0	.	385;385	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	385	ENSP00000364163:R385C	ENSP00000364163:R385C	R	-	1	0	NOTCH4	32296166	0.997000	0.39634	1.000000	0.80357	0.905000	0.53344	2.450000	0.44943	2.241000	0.73720	0.313000	0.20887	CGC		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	131	0	0	0	0.02938	0	7	131					A	32188188	G	A	32188188	3	1	237	1	0	0	0	0	1	0	0	0	10551	1145	40	1	4958	1	NOTCH4	6	32188188	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	3107688	32188188	138926879	12	28243											
ZPBP	11055	broad.mit.edu	37	chr7	49977166	49977166	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaccaggctgctattgcaTtgaaggcaatgaattccatc	8	10	0	2	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	ENST00000046087.2	-	8	1083	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.Q337Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	338					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)				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)					TGCTATTGCATTGAAGGCAAT	0.343																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(1012-1014)caA>caG		zona pellucida binding protein		T	,	0,4406		0,0,2203	103	105	104		1011,1014	-2.6	0.1	7	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZPBP	NM_001159878.1,NM_007009.2	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	337/351,338/352	49977166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:49977166T>C	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.1014A>G	7.37:g.49977166T>C						ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.Q337Q	p.Q338Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			8	1083	-	Glioma(55;0.08)|all_neural(89;0.245)		338					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.1014A>G	CCDS5509.1																																																																																				0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		36	74	0	0	0	0.092188	0	36	74					C	49977166	T	C	49977166	2	2	237	1	0	0	0	0	0	0	0	1	18216	1490	52	3		3	ZPBP	7	49977166	Silent	SNP	T	TCGA-HT-7474-01A-11D-2024-08		49977166	109161497	13	28244											
TAS2R16	50833	broad.mit.edu	37	chr7	122635637	122635637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaataattgtcaaggActcaagcacatagatgatca	7	9	3	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	ENST00000249284.2	-	1	117	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	18					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGTCAAGGACTCAAGCACA	0.453																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(52-54)Tcc>Ccc		taste receptor, type 2, member 16							59	56	57					7																	122635637		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635637A>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.52T>C	7.37:g.122635637A>G	ENSP00000249284:p.Ser18Pro						p.S18P	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	117	-			18					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.52T>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149393	0.37923	.	.	ENSG00000128519	ENST00000249284	T	0.39056	1.1	4.61	0.867	0.19085	.	0.424586	0.22063	N	0.065147	T	0.53367	0.1792	M	0.64404	1.975	0.25366	N	0.988748	D	0.89917	1.0	D	0.76575	0.988	T	0.39375	-0.9617	10	0.44086	T	0.13	.	6.5814	0.22596	0.7068:0.0:0.2932:0.0	.	18	Q9NYV7	T2R16_HUMAN	P	18	ENSP00000249284:S18P	ENSP00000249284:S18P	S	-	1	0	TAS2R16	122422873	0.007000	0.16637	0.603000	0.28903	0.218000	0.24690	1.223000	0.32527	0.056000	0.16144	0.533000	0.62120	TCC		0.453	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		15	48	0	0	0	0.028581	0	15	48					G	122635637	A	G	122635637	3	3	237	1	0	0	0	0	1	0	0	0	15566	275	10	3	827	3	TAS2R16	7	122635637	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08	72658471	122635637	36503026	14	28245											
PAPPA	5069	broad.mit.edu	37	chr9	119139910	119139910	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctgctctgattcactGtgtcaaaggctgtgaggtga	11	10	4	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	ENST00000328252.3	+	20	5030	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1554	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						CTGATTCACTGTGTCAAAGGC	0.473																																						ENST00000328252.3																			0				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						c.(4660-4662)tGt>tCt		pregnancy-associated plasma protein A, pappalysin 1							182	146	158					9																	119139910		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119139910G>C		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.4661G>C	9.37:g.119139910G>C	ENSP00000330658:p.Cys1554Ser					PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S|PAPPA_ENST00000483254.1_3'UTR	p.C1554S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			20	5030	+			1554			Sushi 5.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4661G>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740989	0.89573	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	D;D	0.98234	-4.81;-4.81	5.97	5.97	0.96955	Notch domain (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.99833	1.1055	10	0.87932	D	0	-11.6164	20.4301	0.99081	0.0:0.0:1.0:0.0	.	592;1554	F5GZ19;Q13219	.;PAPP1_HUMAN	S	1554;592	ENSP00000330658:C1554S;ENSP00000441461:C592S	ENSP00000330658:C1554S	C	+	2	0	PAPPA	118179731	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.434000	0.97515	2.834000	0.97654	0.557000	0.71058	TGT		0.473	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		16	28	0	0	0	0.024245	0	16	28					C	119139910	G	C	119139910	3	2	237	1	0	0	0	0	1	0	0	0	11432	1377	48	4	4739	4	PAPPA	9	119139910	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		119139910	22073521	15	28246											
SOHLH1	402381	broad.mit.edu	37	chr9	138588581	138588581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcaaggatgtgcggcaCgggctctgggctggccgacg	19	11	1	0	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	ENST00000298466.5	-	5	598	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	180					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)		ATGTGCGGCACGGGCTCTGGG	0.632																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(538-540)Gtg>Atg		spermatogenesis and oogenesis specific basic helix-loop-helix 1		G	MET/VAL,MET/VAL	1,4405		0,1,2202	53	54	54		538,538	0.6	0	9	dbSNP_134	54	2,8596		0,2,4297	no	missense,missense	SOHLH1	NM_001012415.2,NM_001101677.1	21,21	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	180/329,180/388	138588581	3,13001	2203	4299	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138588581C>T	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.538G>A	9.37:g.138588581C>T	ENSP00000298466:p.Val180Met					SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	p.V180M	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	5	598	-		Myeloproliferative disorder(178;0.0511)	180					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.538G>A	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138357	0.37728	2.27E-4	2.33E-4	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.38401	1.14;1.18	1.56	0.614	0.17603	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.006;0.009	B;B	0.04013	0.001;0.001	T	0.20174	-1.0283	9	0.35671	T	0.21	.	2.7742	0.05343	0.2074:0.3069:0.4858:0.0	.	180;180	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	M	180	ENSP00000298466:V180M;ENSP00000404438:V180M	ENSP00000298466:V180M	V	-	1	0	SOHLH1	137728402	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.686000	0.05161	-0.141000	0.11374	-0.215000	0.12644	GTG		0.632	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		4	61	0	0	0	0.02938	0	4	61					T	138588581	C	T	138588581	3	4	237	1	0	0	0	0	1	0	0	0	14923	536	19	1	682	1	SOHLH1	9	138588581	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	19448671	138588581	2624850	16	28247											
INPP5A	3632	broad.mit.edu	37	chr10	134521843	134521843	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggtcaagaaaaggcttcatCcggacgaggtggtgcattgc	14	8	2	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	ENST00000368594.3	+	7	778	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.I167I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500). {ECO:0000305}.	inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	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)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGGCTTCATCCGGACGAGGT	0.463																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(499-501)atC>atA		inositol polyphosphate-5-phosphatase, 40kDa							331	257	282					10																	134521843		2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134521843C>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.501C>A	10.37:g.134521843C>A						INPP5A_ENST00000368593.3_Silent_p.I167I|INPP5A_ENST00000487614.1_3'UTR	p.I167I	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	7	778	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	167	PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).				D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.501C>A	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361130	0.24684	.	.	ENSG00000068383	ENST00000432898;ENST00000342652	.	.	.	4.88	-1.96	0.07525	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31998	-0.9923	4	.	.	.	-30.8518	1.9716	0.03407	0.1281:0.1649:0.3797:0.3273	.	.	.	.	T	86;139	.	.	P	+	1	0	INPP5A	134371833	0.882000	0.30256	0.993000	0.49108	0.992000	0.81027	-0.090000	0.11163	-0.034000	0.13713	0.491000	0.48974	CCG		0.463	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		6	26	1	0	0.00307968	0.038147	0.00315865	6	26					A	134521843	C	A	134521843	2	1	237	1	0	0	0	0	0	0	0	1	7754	845	30	4		4	INPP5A	10	134521843	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		134521843	1012904	17	28248											
SIK3	23387	broad.mit.edu	37	chr11	116719848	116719848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatacataagcatcgtcGctgttctggatcgtgtggtg	11	9	1	0			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	ENST00000292055.4	-	21	3524	c.3489C>T	c.(3487-3489)agC>agT	p.S1163S	SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000446921.2_Silent_p.S1161S|SIK3_ENST00000434315.2_Silent_p.S1002S|SIK3_ENST00000375300.1_Silent_p.S1221S|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1163					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AAGCATCGTCGCTGTTCTGGA	0.597																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3661-3663)agC>agT		SIK family kinase 3							172	126	141					11																	116719848		2201	4293	6494	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116719848G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3489C>T	11.37:g.116719848G>A						SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000292055.4_Silent_p.S1163S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Silent_p.S1161S|SIK3_ENST00000434315.2_Silent_p.S1002S	p.S1221S			Q9Y2K2	SIK3_HUMAN			21	3668	-			1163					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.3663C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342368	0.24339	.	.	ENSG00000160584	ENST00000445177;ENST00000454905;ENST00000446921	.	.	.	5.26	-2.94	0.05581	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1689	0.59587	0.6115:0.0:0.3885:0.0	.	.	.	.	X	1263;3;1126	.	.	R	-	1	2	SIK3	116225058	0.008000	0.16893	0.975000	0.42487	0.998000	0.95712	-0.906000	0.04071	-0.638000	0.05509	0.557000	0.71058	CGA		0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		7	63	0	0	0	0.038147	0	7	63					A	116719848	G	A	116719848	2	1	237	1	0	0	0	0	0	0	0	1	14319	1078	38	1		1	SIK3	11	116719848	Silent	SNP	G	TCGA-HT-7474-01A-11D-2024-08		116719848	18286668	18	28249											
FSIP1	161835	broad.mit.edu	37	chr15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	CTGGAAAG	-													gcaatttagagatgatggacCtggaaagctgggggaacaca					rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	ENST00000350221.3	-	11	1539_1546	c.1330_1337delCTTTCCAG	c.(1330-1338)ctttccaggfs	p.LSR444fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	444										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GATGATGGACCTGGAAAGCTGGGGGAAC	0.38																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(1330-1338)gfs		fibrous sheath interacting protein 1																																				SO:0001589	frameshift_variant	161835							g.chr15:39910298_39910305delCTGGAAAG	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1330_1337delCTTTCCAG	15.37:g.39910298_39910305delCTGGAAAG	ENSP00000280236:p.Leu444fs						p.LSR444fs	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1539_1546	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	444					Q6X2C8|Q86Y89	Frame_Shift_Del	DEL	ENST00000350221.3	37	c.1330_1337delCTTTCCAG	CCDS10050.1																																																																																				0.38	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		21	94						21	94	---	---	---	---	-	39910305	CTGGAAAG	-	39910298	7	5	237	1	0	1	0	1	0	0	0	0	6074	681	24	0	416	0	FSIP1	15	39910298	Frame_Shift_Del	DEL	CTGGAAAG	TCGA-HT-7474-01A-11D-2024-08		39910298	62621094	19	28250											
RPUSD1	113000	broad.mit.edu	37	chr16	837118	837118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggcccggccctccGtgctgttcctgccaatggca	14	14	0	0	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	ENST00000561734.1	-	3	611	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000567114.1_De_novo_Start_InFrame|RPUSD1_ENST00000565809.1_Intron			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	123					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		14769	0.0		0.0	False		,,,				2504	0.001					ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(367-369)aCg>aTg		RNA pseudouridylate synthase domain containing 1		G	MET/THR	2,4368	4.2+/-10.8	0,2,2183	43	41	42		368	3.4	0.7	16	dbSNP_134	42	0,8598		0,0,4299	no	missense	RPUSD1	NM_058192.2	81	0,2,6482	AA,AG,GG		0.0,0.0458,0.0154	probably-damaging	123/313	837118	2,12966	2185	4299	6484	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837118G>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.368C>T	16.37:g.837118G>A	ENSP00000455026:p.Thr123Met					RPUSD1_ENST00000567114.1_De_novo_Start_InFrame|RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M	p.T123M			Q9UJJ7	RUSD1_HUMAN			3	611	-		Hepatocellular(780;0.00335)	123					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.368C>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	9.390	1.075349	0.20227	4.58E-4	0.0	ENSG00000007376	ENST00000007264	T	0.22743	1.94	4.4	3.41	0.39046	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.554792	0.20280	N	0.095463	T	0.25865	0.0630	L	0.39692	1.235	0.20873	N	0.999838	D	0.65815	0.995	P	0.58873	0.847	T	0.08576	-1.0715	10	0.56958	D	0.05	-14.599	3.0577	0.06189	0.0975:0.1797:0.537:0.1858	.	123	Q9UJJ7	RUSD1_HUMAN	M	123	ENSP00000007264:T123M	ENSP00000007264:T123M	T	-	2	0	RPUSD1	777119	0.043000	0.20138	0.693000	0.30195	0.758000	0.43043	1.292000	0.33342	1.017000	0.39495	0.549000	0.68633	ACG		0.692	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		5	13	0	0	0	0.021553	0	5	13					A	837118	G	A	837118	3	1	237	1	0	0	0	0	1	0	0	0	13666	1145	40	1	582	1	RPUSD1	16	837118	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		837118	89517635	20	28251											
SMPD3	55512	broad.mit.edu	37	chr16	68398674	68398674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcagttatcaaagTtgaaatctccacagacgacg	10	9	2	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	ENST00000219334.5	-	5	2138	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	512		Important for substrate recognition. {ECO:0000250}.			cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTTATCAAAGTTGAAATCTCC	0.572																																						ENST00000219334.5																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1534-1536)aAc>aGc		sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	Phosphatidylserine(DB00144)						48	50	49					16																	68398674		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68398674T>C	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1535A>G	16.37:g.68398674T>C	ENSP00000219334:p.Asn512Ser					SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S|SMPD3_ENST00000566009.1_5'UTR	p.N512S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	5	2138	-		Ovarian(137;0.0563)	512				Important for substrate recognition (By similarity).	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1535A>G	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875904	0.91664	.	.	ENSG00000103056	ENST00000219334	D	0.99458	-5.93	5.82	5.82	0.92795	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.998	D	0.98435	1.0584	10	0.87932	D	0	-40.8822	14.122	0.65195	0.0:0.0:0.0:1.0	.	512;512;512	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	S	512	ENSP00000219334:N512S	ENSP00000219334:N512S	N	-	2	0	SMPD3	66956175	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.694000	0.84235	2.224000	0.72417	0.459000	0.35465	AAC		0.572	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		6	48	0	0	0	0.02938	0	6	48					C	68398674	T	C	68398674	3	2	237	1	0	0	0	0	1	0	0	0	14806	1725	60	3	452	3	SMPD3	16	68398674	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	67561556	68398674	21956079	21	28252											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	6	15	1	1	rs587780075		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000420246.2_Missense_Mutation_p.R267P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAAGCTGTTCCGTCCCAGTAG	0.527		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(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	GRCh37	CM921040	TP53	M		c.(799-801)cGg>cCg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	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.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P	p.R267P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	932	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	6	0	0	0	0.069288	0	22	6					G	7577138	C	G	7577138	3	3	237	1	0	0	0	0	1	0	0	0	16378	652	23	4	486	4	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		7577138	73618072	22	28253											
SMCR8	140775	broad.mit.edu	37	chr17	18220403	18220403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagatggagcaggaactgGgagatgaggagtacaaggaa	16	4	1	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:18220403G>A	ENST00000406438.3	+	1	1780	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	434						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCAGGAACTGGGAGATGAGGA	0.448																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1300-1302)Gga>Aga		Smith-Magenis syndrome chromosome region, candidate 8							114	108	110					17																	18220403		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220403G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1300G>A	17.37:g.18220403G>A	ENSP00000385025:p.Gly434Arg						p.G434R	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1780	+			434					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1300G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020593	0.19433	.	.	ENSG00000176994	ENST00000406438	T	0.22945	1.93	6.03	2.93	0.34026	.	0.123741	0.53938	N	0.000047	T	0.22820	0.0551	L	0.53249	1.67	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.23297	-1.0192	10	0.17832	T	0.49	-35.0175	11.7519	0.51853	0.1928:0.0:0.8072:0.0	.	434	Q8TEV9	SMCR8_HUMAN	R	434	ENSP00000385025:G434R	ENSP00000385025:G434R	G	+	1	0	SMCR8	18161128	0.997000	0.39634	0.003000	0.11579	0.928000	0.56348	3.112000	0.50368	0.423000	0.26033	0.655000	0.94253	GGA		0.448	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		4	86	0	0	0	0.009096	0	4	86					A	18220403	G	A	18220403	3	1	237	1	0	0	0	0	1	0	0	0	14792	1233	43	2	1302	2	SMCR8	17	18220403	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	10643265	18220403	62974807	23	28254											
NINL	22981	broad.mit.edu	37	chr20	25436318	25436318	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatcactcacctgctccttCagcttatccactttctcttg	3	17	4	0			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	ENST00000278886.6	-	23	4021	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L967L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1316					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						CCTGCTCCTTCAGCTTATCCA	0.488																																						ENST00000278886.6																			0				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						c.(3946-3948)ctG>ctA		ninein-like							243	226	232					20																	25436318		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436318C>T		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.3948G>A	20.37:g.25436318C>T						NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L967L	p.L1316L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	4021	-			1316					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3948G>A	CCDS33452.1																																																																																				0.488	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		56	142	0	0	0	0.048971	0	56	142					T	25436318	C	T	25436318	2	4	237	1	0	0	0	0	0	0	0	1	10420	813	29	2		2	NINL	20	25436318	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		25436318	37589202	24	28255			1	24		2	2	85	C		7.597406e-05
NINL	22981	broad.mit.edu	37	chr20	25436402	25436402	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccgctcttctgtggctttCagctgtttctcatgttcttc	7	13	5	0			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					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						CTGTGGCTTTCAGCTGTTTCT	0.537																																						ENST00000278886.6																			0				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						c.(3862-3864)ctG>ctA		ninein-like							183	196	191					20																	25436402		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25436402C>T		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.3864G>A	20.37:g.25436402C>T						NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	p.L1288L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			23	3937	-			1288					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3864G>A	CCDS33452.1																																																																																				0.537	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		62	199	0	0	0	0.048971	0	62	199					T	25436402	C	T	25436402	2	4	237	1	0	0	0	0	0	0	0	1	10420	813	29	2		2	NINL	20	25436402	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	84	25436402	37589118	25	28256			1	24		2	2	85	C		7.597406e-05
TLR7	51284	broad.mit.edu	37	chrX	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	CGGAAAAGG	-													agtccaagttcctccagctcCggaaaaggctctgtgggagt					rs181600414		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	ENST00000380659.3	+	3	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)cggaaaaggdel	p.RKR1004del		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1004	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|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 chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(3010-3018)del		toll-like receptor 7	Imiquimod(DB00724)																																			SO:0001651	inframe_deletion	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906637_12906645delCGGAAAAGG	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.3010_3018delCGGAAAAGG	X.37:g.12906637_12906645delCGGAAAAGG	ENSP00000370034:p.Arg1004_Arg1006del						p.RKR1004del	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	3149_3157	+			1004			TIR.		D1CS69|Q9NR98	In_Frame_Del	DEL	ENST00000380659.3	37	c.3010_3018delCGGAAAAGG	CCDS14151.1																																																																																				0.474	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		41	68						41	68	---	---	---	---	-	12906645	CGGAAAAGG	-	12906637	7	5	237	1	0	1	0	1	0	0	0	0	15953	643	23	0	3016	0	TLR7	23	12906637	In_Frame_Del	DEL	CGGAAAAGG	TCGA-HT-7474-01A-11D-2024-08		12906637	142363923	26	28257											
ATRX	546	broad.mit.edu	37	chrX	76855981	76855982	+	Frame_Shift_Ins	INS	-	-	A													ttaacatctgaaaatcttggINSaaaagctttgcacctgcctt							TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	ENST00000373344.5	-	23	5832_5833	c.5618_5619insT	c.(5617-5619)ttcfs	p.F1873fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F1835fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1873					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						GAAAATCTTGGAAAAGCTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5617-5619)tcafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855981_76855982insA	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.5619dupT	X.37:g.76855985_76855985dupA	ENSP00000362441:p.Phe1873fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S1835fs|ATRX_ENST00000480283.1_5'UTR	p.S1873fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5832_5833	-			1873					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.5618_5619insT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		88	76						88	76	---	---	---	---	A	76855982	-	A	76855981	7	5	237	1	0	1	1	0	0	0	0	0	1208	1165	41	0	1911	0	ATRX	23	76855981	Frame_Shift_Ins	INS	-	TCGA-HT-7474-01A-11D-2024-08	63949344	76855981	78414579	27	28258											
GLRA4	441509	broad.mit.edu	37	chrX	102962436	102962436	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgactttcttggatgatatCttcctcctggaattacaagg	8	9	2	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:102962436C>A	ENST00000372617.4	-	9	1510	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	364						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)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGATGATATCTTCCTCCTGG	0.463																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1090-1092)Gat>Tat		glycine receptor, alpha 4							90	79	83					X																	102962436		1905	4106	6011	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102962436C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1090G>T	X.37:g.102962436C>A	ENSP00000361700:p.Asp364Tyr						p.D364Y	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			9	1510	-			364						Missense_Mutation	SNP	ENST00000372617.4	37	c.1090G>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	c	22.5	4.297501	0.81025	.	.	ENSG00000188828	ENST00000372617	D	0.83837	-1.77	5.62	5.62	0.85841	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.100100	0.64402	D	0.000002	D	0.85296	0.5664	L	0.56769	1.78	0.47905	D	0.999542	P	0.37370	0.592	P	0.45753	0.492	D	0.86563	0.1842	10	0.87932	D	0	.	15.884	0.79226	0.0:1.0:0.0:0.0	.	364	Q5JXX5	GLRA4_HUMAN	Y	364	ENSP00000361700:D364Y	ENSP00000361700:D364Y	D	-	1	0	GLRA4	102849092	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.581000	0.60949	2.350000	0.79820	0.544000	0.68410	GAT		0.463	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		4	40	1	0	3.59834e-05	0.021553	3.99815e-05	4	40					A	102962436	C	A	102962436	3	1	237	1	0	0	0	0	1	0	0	0	6457	913	32	4	166	4	GLRA4	23	102962436	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	26106455	102962436	52308124	28	28259											
ATAD3B	83858	broad.mit.edu	37	chr1	1421533	1421533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacatcgccatagcaaccaGgaacaccaagaagaaccggg	10	13	0	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:1421533G>A	ENST00000308647.7	+	10	1123	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	336						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)		ATAGCAACCAGGAACACCAAG	0.642																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1006-1008)aGg>aAg		ATPase family, AAA domain containing 3B							79	91	87					1																	1421533		2203	4299	6502	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421533G>A	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.1007G>A	1.37:g.1421533G>A	ENSP00000311766:p.Arg336Lys						p.R336K	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		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)	10	1123	+	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)	336					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1007G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	0.876	-0.730318	0.03135	.	.	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.94723	-3.5	2.26	1.3	0.21679	.	0.091794	0.85682	D	0.000000	D	0.85044	0.5607	N	0.16130	0.375	0.80722	D	1	B;B	0.22414	0.069;0.041	B;B	0.23018	0.043;0.019	T	0.73100	-0.4089	10	0.08837	T	0.75	.	9.3173	0.37941	0.0:0.0:0.7836:0.2164	.	290;336	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	K	231;153;336	ENSP00000311766:R336K	ENSP00000311766:R336K	R	+	2	0	ATAD3B	1411396	1.000000	0.71417	0.744000	0.31058	0.005000	0.04900	7.246000	0.78247	0.282000	0.22254	-1.029000	0.02412	AGG		0.642	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		35	70	0	0	0	0.004878	0	35	70					A	1421533	G	A	1421533	3	1	238	1	0	0	0	0	1	0	0	0	1074	1000	35	2	1045	2	ATAD3B	1	1421533	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		1421533	247829088	1	28260											
C1orf201	90529	broad.mit.edu	37	chr1	24727850	24727850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggatgtttgccagtgCgttcatttttctgtgcagag	13	7	3	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:24727850C>T	ENST00000374409.1	-	2	283	c.29G>A	c.(28-30)cGc>cAc	p.R10H	STPG1_ENST00000337248.4_Missense_Mutation_p.R10H|STPG1_ENST00000003583.8_Missense_Mutation_p.A3T|STPG1_ENST00000440416.1_Missense_Mutation_p.A3T|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	10					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTTGCCAGTGCGTTCATTTTT	0.418																																						ENST00000374409.1																			0											c.(28-30)cGc>cAc		sperm-tail PG-rich repeat containing 1							208	171	184					1																	24727850		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24727850C>T	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.29G>A	1.37:g.24727850C>T	ENSP00000363530:p.Arg10His					STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.R10H|STPG1_ENST00000003583.8_Missense_Mutation_p.A3T|STPG1_ENST00000440416.1_Missense_Mutation_p.A3T	p.R10H	NM_001199012.1	NP_001185941.1					2	283	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.29G>A	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.137|3.137	-0.177246|-0.177246	0.06380|0.06380	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000440416;ENST00000003583|ENST00000374409;ENST00000337248;ENST00000437986	.|.	.|.	.|.	2.97|2.97	-5.94|-5.94	0.02247|0.02247	.|.	.|2.596650	.|0.01540	.|N	.|0.019185	T|T	0.25005|0.25005	0.0607|0.0607	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.08638|0.08638	-1.0712|-1.0712	7|8	0.87932|0.37606	D|T	0|0.19	-13.4278|-13.4278	3.7241|3.7241	0.08467|0.08467	0.4496:0.3158:0.0:0.2346|0.4496:0.3158:0.0:0.2346	.|.	3|10	Q5TH74-3|Q5TH74	.|CA201_HUMAN	T|H	3|10	.|.	ENSP00000003583:A3T|ENSP00000337461:R10H	A|R	-|-	1|2	0|0	C1orf201|C1orf201	24600437|24600437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.114000|-1.114000	0.03293|0.03293	-1.548000|-1.548000	0.01712|0.01712	-3.192000|-3.192000	0.00055|0.00055	GCA|CGC		0.418	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		18	22	0	0	0	0.007413	0	18	22					T	24727850	C	T	24727850	3	4	238	1	0	0	0	0	1	0	0	0	2027	768	27	1	884	1	C1orf201	1	24727850	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	23306317	24727850	224522771	2	28261											
C1orf103	55791	broad.mit.edu	37	chr1	111494470	111494470	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataggcatatttttggatcGcgtcccactaggatcgatgg	11	8	0	0	rs375319628		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:111494470G>A	ENST00000369763.4	-	2	1426	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	346					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						TTTTTGGATCGCGTCCCACTA	0.353																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1036-1038)Cga>Tga		ligand dependent nuclear receptor interacting factor 1		G	,stop/ARG	0,4406		0,0,2203	82	86	85		,1036	5.7	0.9	1		85	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained	LRIF1	NM_001006945.1,NM_018372.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,346/770	111494470	1,13005	2203	4300	6503	SO:0001587	stop_gained	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494470G>A	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.1036C>T	1.37:g.111494470G>A	ENSP00000358778:p.Arg346*					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	p.R346*	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1426	-			346					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Nonsense_Mutation	SNP	ENST00000369763.4	37	c.1036C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.893624	0.97074	0.0	1.16E-4	ENSG00000121931	ENST00000369763	.	.	.	5.7	5.7	0.88788	.	0.187793	0.37761	N	0.001947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0041	17.3445	0.87306	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000358778:R346X	R	-	1	2	LRIF1	111295993	1.000000	0.71417	0.877000	0.34402	0.209000	0.24338	5.818000	0.69236	2.705000	0.92388	0.591000	0.81541	CGA		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		49	77	0	0	0	0.01441	0	49	77					A	111494470	G	A	111494470	4	1	238	1	0	0	0	0	0	1	0	0	1977	1095	38	1	1285	1	C1orf103	1	111494470	Nonsense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	86766620	111494470	137756151	3	28262											
CD1B	910	broad.mit.edu	37	chr1	158298711	158298711	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaccacccacaactcacCggcgcctcatataccataat	3	18	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:158298711C>T	ENST00000368168.3	-	5	1087	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CACAACTCACCGGCGCCTCAT	0.388																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.e5+1		CD1b molecule							75	76	76					1																	158298711		2203	4300	6503	SO:0001630	splice_region_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158298711C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.980+1G>A	1.37:g.158298711C>T							p.R327_splice	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			5	1087	-	all_hematologic(112;0.0378)		327					Q5TDK9|Q5TDL0|Q9UMM2	Splice_Site	SNP	ENST00000368168.3	37	c.980_splice	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195738	0.38806	.	.	ENSG00000158485	ENST00000368168	T	0.01495	4.83	4.26	4.26	0.50523	.	1.310930	0.05586	N	0.573872	T	0.01421	0.0046	L	0.54323	1.7	0.32179	N	0.580633	D;P	0.57899	0.981;0.954	B;B	0.42282	0.367;0.382	T	0.49523	-0.8931	9	.	.	.	0.0158	12.3598	0.55197	0.0:1.0:0.0:0.0	.	327;272	P29016;P29016-2	CD1B_HUMAN;.	Q	327	ENSP00000357150:R327Q	.	R	-	2	0	CD1B	156565335	0.747000	0.28283	0.940000	0.37924	0.565000	0.35776	1.162000	0.31786	2.365000	0.80145	0.655000	0.94253	CGG		0.388	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764	Missense_Mutation	12	47	0	0	0	0.001855	0	12	47					T	158298711	C	T	158298711	5	4	238	1	0	0	0	0	0	0	1	0	2975	666	23	1	29	1	CD1B	1	158298711	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	46804241	158298711	90951910	4	28263											
UAP1	6675	broad.mit.edu	37	chr1	162557442	162557442	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttcttcactgtaccatttCtgagagatgttgtcaagtat	7	7	4	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:162557442C>T	ENST00000367925.1	+	5	1044	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	UAP1_ENST00000367926.4_Silent_p.L338L|UAP1_ENST00000271469.3_Silent_p.L338L|UAP1_ENST00000367924.1_Silent_p.L338L			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	338					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)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCATTTCTGAGAGATGT	0.433																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1012-1014)Ctg>Ttg		UDP-N-acteylglucosamine pyrophosphorylase 1							139	143	142					1																	162557442		2203	4300	6503	SO:0001819	synonymous_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162557442C>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1012C>T	1.37:g.162557442C>T						UAP1_ENST00000367926.4_Silent_p.L338L|UAP1_ENST00000367924.1_Silent_p.L338L|UAP1_ENST00000367925.1_Silent_p.L338L	p.L338L			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		6	1314	+	all_hematologic(112;0.115)		338					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Silent	SNP	ENST00000367925.1	37	c.1012C>T																																																																																					0.433	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		60	165	0	0	0	0.01441	0	60	165					T	162557442	C	T	162557442	2	4	238	1	0	0	0	0	0	0	0	1	16822	912	32	2		2	UAP1	1	162557442	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08	4258731	162557442	86693179	5	28264											
IL1RL1	9173	broad.mit.edu	37	chr2	102956649	102956649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatttgatgtattcaacaGtatctggatcagaaaaaaat	6	4	3	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:102956649G>A	ENST00000233954.1	+	4	635	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I|IL1RL1_ENST00000311734.2_Missense_Mutation_p.V122I	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	122	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATTCAACAGTATCTGGATC	0.343																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(364-366)Gta>Ata		interleukin 1 receptor-like 1							76	75	75					2																	102956649		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102956649G>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.364G>A	2.37:g.102956649G>A	ENSP00000233954:p.Val122Ile					IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I	p.V122I			Q01638	ILRL1_HUMAN			4	703	+			122			Ig-like C2-type 2.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.364G>A	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066786	0.36470	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T;T	0.73469	0.14;2.46;3.0;-0.75;2.55	5.01	1.79	0.24919	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.145850	0.06465	N	0.730200	T	0.61502	0.2352	L	0.34521	1.04	0.09310	N	1	B;B;B	0.25772	0.068;0.134;0.083	B;B;B	0.29862	0.022;0.108;0.03	T	0.45556	-0.9253	10	0.09338	T	0.73	.	6.5231	0.22287	0.4824:0.0:0.5176:0.0	.	5;122;122	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	I	122;122;5;122;122	ENSP00000233954:V122I;ENSP00000377052:V122I;ENSP00000384822:V5I;ENSP00000310371:V122I;ENSP00000386618:V122I	ENSP00000233954:V122I	V	+	1	0	IL1RL1	102323081	0.000000	0.05858	0.001000	0.08648	0.465000	0.32709	0.361000	0.20267	0.533000	0.28675	0.563000	0.77884	GTA		0.343	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		13	19	0	0	0	0.013537	0	13	19					A	102956649	G	A	102956649	3	1	238	1	0	0	0	0	1	0	0	0	7663	1029	36	2	374	2	IL1RL1	2	102956649	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		102956649	140242724	6	28265											
SULT1C2	6819	broad.mit.edu	37	chr2	108921152	108921152	+	Frame_Shift_Del	DEL	A	A	-													tttgaaaccttcatcaatggAaaaggtacgggaacatcctt							TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:108921152delA	ENST00000437390.2	+	5	717	c.540delA	c.(538-540)ggafs	p.G180fs	SULT1C2_ENST00000409880.1_Frame_Shift_Del_p.G129fs|SULT1C2_ENST00000251481.6_Frame_Shift_Del_p.G166fs|SULT1C2_ENST00000326853.5_Frame_Shift_Del_p.G177fs			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	172					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCATCAATGGAAAAGGTACGG	0.473																																						ENST00000326853.5																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(529-531)ggfs		sulfotransferase family, cytosolic, 1C, member 2							128	116	120					2																	108921152		2203	4300	6503	SO:0001589	frameshift_variant	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921152delA	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.540delA	2.37:g.108921152delA	ENSP00000399651:p.Gly180fs					SULT1C2_ENST00000409880.1_Frame_Shift_Del_p.G129fs|SULT1C2_ENST00000437390.2_Frame_Shift_Del_p.G180fs|SULT1C2_ENST00000251481.6_Frame_Shift_Del_p.G166fs	p.G177fs	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN			6	984	+			166					Q069I8|Q08AS5|Q53S63	Frame_Shift_Del	DEL	ENST00000437390.2	37	c.531delA																																																																																					0.473	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		37	74						37	74	---	---	---	---	-	108921152	A	-	108921152	7	5	238	1	0	1	0	1	0	0	0	0	15374	233	9	0	611	0	SULT1C2	2	108921152	Frame_Shift_Del	DEL	A	TCGA-HT-7475-01A-11D-2024-08	5964503	108921152	134278221	7	28266											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	53	0	0	0	0.004656	0	25	53					T	209113112	C	T	209113112	3	4	238	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	100191960	209113112	34086261	8	28267											
PTH2R	5746	broad.mit.edu	37	chr2	209308141	209308141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatgctgagagctacaaGcatctttgtcaaagacagag	9	8	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209308141G>A	ENST00000272847.2	+	6	791	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	193					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AGAGCTACAAGCATCTTTGTC	0.403																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(577-579)aGc>aAc		parathyroid hormone 2 receptor							126	115	119					2																	209308141		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308141G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.578G>A	2.37:g.209308141G>A	ENSP00000272847:p.Ser193Asn					PTH2R_ENST00000413482.1_3'UTR	p.S193N	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	791	+			193					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.578G>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729842	0.89390	.	.	ENSG00000144407	ENST00000272847	T	0.38887	1.11	5.08	5.08	0.68730	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000024	T	0.71728	0.3374	M	0.91090	3.175	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79120	-0.1934	10	0.72032	D	0.01	.	15.9447	0.79784	0.0:0.0:1.0:0.0	.	82;193	B4DFN8;P49190	.;PTH2R_HUMAN	N	193	ENSP00000272847:S193N	ENSP00000272847:S193N	S	+	2	0	PTH2R	209016386	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	8.994000	0.93529	2.363000	0.80096	0.585000	0.79938	AGC		0.403	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		26	40	0	0	0	0.003954	0	26	40					A	209308141	G	A	209308141	3	1	238	1	0	0	0	0	1	0	0	0	12760	971	34	2	600	2	PTH2R	2	209308141	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	195029	209308141	33891232	9	28268											
C4orf35	85438	broad.mit.edu	37	chr4	71201800	71201800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtctgaaactgataaTacagagactgtacctaagat	8	6	1	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:71201800T>C	ENST00000273936.5	+	1	1118	c.1044T>C	c.(1042-1044)aaT>aaC	p.N348N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	348					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAACTGATAATACAGAGACTG	0.408																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1042-1044)aaT>aaC		calcium-binding protein, spermatid-specific 1							97	96	96					4																	71201800		2203	4300	6503	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201800T>C	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.1044T>C	4.37:g.71201800T>C							p.N348N	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	1103	+			348					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.1044T>C	CCDS3539.1																																																																																				0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		28	50	0	0	0	0.004656	0	28	50					C	71201800	T	C	71201800	2	2	238	1	0	0	0	0	0	0	0	1	2265	1403	49	3		3	C4orf35	4	71201800	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		71201800	119952476	10	28269											
ART3	419	broad.mit.edu	37	chr4	77018801	77018801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctttgtgtttcaggactAaaaaccgaaaactgtattga	7	6	2	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:77018801A>G	ENST00000355810.4	+	4	905	c.786A>G	c.(784-786)ctA>ctG	p.L262L	AC112719.1_ENST00000582318.1_RNA|ART3_ENST00000349321.3_Silent_p.L262L|ART3_ENST00000341029.5_Silent_p.L262L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	262					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)			TTTCAGGACTAAAAACCGAAA	0.323																																						ENST00000355810.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16						c.(784-786)ctA>ctG		ADP-ribosyltransferase 3							88	101	96					4																	77018801		2203	4299	6502	SO:0001819	synonymous_variant	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77018801A>G	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.786A>G	4.37:g.77018801A>G						ART3_ENST00000341029.5_Silent_p.L262L|ART3_ENST00000349321.3_Silent_p.L262L|ART3_ENST00000513494.1_3'UTR	p.L262L	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	905	+			262					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	c.786A>G	CCDS47079.1																																																																																				0.323	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		18	51	0	0	0	0.014323	0	18	51					G	77018801	A	G	77018801	2	3	238	1	0	0	0	0	0	0	0	1	998	349	13	3		3	ART3	4	77018801	Silent	SNP	A	TCGA-HT-7475-01A-11D-2024-08	5817001	77018801	114135475	11	28270											
BMP2K	55589	broad.mit.edu	37	chr4	79793907	79793907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacacttcatcacttcCagctcaggttggaaccataa	5	13	3	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:79793907C>T	ENST00000335016.5	+	13	1914	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P583L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	583					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCATCACTTCCAGCTCAGGTT	0.448																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1747-1749)cCa>cTa		BMP2 inducible kinase							136	132	134					4																	79793907		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79793907C>T	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1748C>T	4.37:g.79793907C>T	ENSP00000334836:p.Pro583Leu					BMP2K_ENST00000502871.1_Missense_Mutation_p.P583L	p.P583L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			13	1914	+			583					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1748C>T	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868483	0.72065	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.76839	1.6;-1.05	5.68	5.68	0.88126	.	0.312990	0.31092	N	0.008267	T	0.80292	0.4596	M	0.65498	2.005	0.80722	D	1	P;P	0.51933	0.949;0.79	P;B	0.45310	0.476;0.36	T	0.82504	-0.0424	10	0.62326	D	0.03	-11.7259	18.3396	0.90300	0.0:1.0:0.0:0.0	.	583;583	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	L	583;583;597	ENSP00000421768:P583L;ENSP00000334836:P583L	ENSP00000264889:P597L	P	+	2	0	BMP2K	80012931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.815000	0.55651	2.847000	0.97988	0.591000	0.81541	CCA		0.448	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		34	44	0	0	0	0.003271	0	34	44					T	79793907	C	T	79793907	3	4	238	1	0	0	0	0	1	0	0	0	1460	594	21	2	1798	2	BMP2K	4	79793907	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	2775106	79793907	111360369	12	28271											
KLKB1	3818	broad.mit.edu	37	chr4	187178500	187178500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctggctataaagaagGgggaaaagatgcttgtaagg	15	4	0	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:187178500G>A	ENST00000264690.6	+	14	1893	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	569	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.G569E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATAAAGAAGGGGGAAAAGAT	0.323																																						ENST00000264690.6																			1	Substitution - Missense(1)	p.G569E(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1705-1707)gGg>gAg		kallikrein B, plasma (Fletcher factor) 1							101	120	114					4																	187178500		2201	4297	6498	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187178500G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1706G>A	4.37:g.187178500G>A	ENSP00000264690:p.Gly569Glu					KLKB1_ENST00000513864.1_Intron	p.G569E	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	14	1893	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	569			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1706G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.51|19.51	3.841806|3.841806	0.71488|0.71488	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690|ENST00000511608	D|D	0.89810|0.90069	-2.57|-2.61	5.97|5.97	5.14|5.14	0.70334|0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.93779|0.93779	0.8011|0.8011	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.961|.	D;P|.	0.97110|.	1.0;0.798|.	D|D	0.94515|0.94515	0.7722|0.7722	10|8	0.87932|0.87932	D|D	0|0	.|.	15.1845|15.1845	0.72989|0.72989	0.0672:0.0:0.9328:0.0|0.0672:0.0:0.9328:0.0	.|.	569;569|.	A8K9A9;P03952|.	.;KLKB1_HUMAN|.	E|R	569|617	ENSP00000264690:G569E|ENSP00000426629:G617R	ENSP00000264690:G569E|ENSP00000426629:G617R	G|G	+|+	2|1	0|0	KLKB1|KLKB1	187415494|187415494	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.799000|0.799000	0.45148|0.45148	8.764000|8.764000	0.91719|0.91719	1.541000|1.541000	0.49316|0.49316	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.323	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		7	153	0	0	0	0.008291	0	7	153					A	187178500	G	A	187178500	3	1	238	1	0	0	0	0	1	0	0	0	8412	1232	43	2	1756	2	KLKB1	4	187178500	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	107384593	187178500	3975776	13	28272											
EBF1	1879	broad.mit.edu	37	chr5	158140057	158140057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgcccatcatccctgcGtggaccgaggtgttagcaag	11	13	2	0	rs570120838		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:158140057G>A	ENST00000313708.6	-	13	1572	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		17081	0.0		0.0	False		,,,				2504	0.001					ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1288-1290)caC>caT		early B-cell factor 1							127	107	114					5																	158140057		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140057G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1290C>T	5.37:g.158140057G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H	p.H430H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1572	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	430					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1290C>T	CCDS4343.1																																																																																				0.557	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		38	37	0	0	0	0.006999	0	38	37					A	158140057	G	A	158140057	2	1	238	1	0	0	0	0	0	0	0	1	4880	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08		158140057	22775203	14	28273											
ZNF454	285676	broad.mit.edu	37	chr5	178392212	178392221	+	Frame_Shift_Del	DEL	GAAGCCTTTT	GAAGCCTTTT	-													cagaaaattcatactggagaGaagccttttgaatgcaactt							TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:178392212_178392221delGAAGCCTTTT	ENST00000320129.3	+	5	1110_1119	c.807_816delGAAGCCTTTT	c.(805-816)gagaagccttttfs	p.EKPF269fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.EKPF269fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	269					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)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		ATACTGGAGAGAAGCCTTTTGAATGCAACT	0.395																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(805-816)gafs		zinc finger protein 454																																				SO:0001589	frameshift_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392212_178392221delGAAGCCTTTT	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.807_816delGAAGCCTTTT	5.37:g.178392212_178392221delGAAGCCTTTT	ENSP00000326249:p.Glu269fs					ZNF454_ENST00000519564.1_Frame_Shift_Del_p.EKPF269fs	p.EKPF269fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1110_1119	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	269					Q2M1P2|Q2M323	Frame_Shift_Del	DEL	ENST00000320129.3	37	c.807_816delGAAGCCTTTT	CCDS4441.1																																																																																				0.395	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		24	68						24	68	---	---	---	---	-	178392221	GAAGCCTTTT	-	178392212	7	5	238	1	0	1	0	1	0	0	0	0	17920	933	33	0	821	0	ZNF454	5	178392212	Frame_Shift_Del	DEL	GAAGCCTTTT	TCGA-HT-7475-01A-11D-2024-08	20252155	178392212	2523048	15	28274											
C2	717	broad.mit.edu	37	chr6	31911098	31911098	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatgtcactattaaggTaccaggaaggaggggcaggg	16	7	1	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31911098T>C	ENST00000299367.5	+	11	1731		c.e11+2		CFB_ENST00000456570.1_Splice_Site|CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Splice_Site|C2_ENST00000452323.2_Splice_Site|C2_ENST00000442278.2_Splice_Site|CFB_ENST00000556679.1_Splice_Site|CFB_ENST00000477310.1_Splice_Site	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2						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)		ACTATTAAGGTACCAGGAAGG	0.552																																						ENST00000556679.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.e8+2		complement factor B							68	69	68					6																	31911098		1510	2709	4219	SO:0001630	splice_region_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911098T>C		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.1455+2T>C	6.37:g.31911098T>C						CFB_ENST00000477310.1_Splice_Site|C2_ENST00000452323.2_Splice_Site|C2_ENST00000299367.5_Splice_Site|C2_ENST00000442278.2_Splice_Site|CFB_ENST00000456570.1_Splice_Site|C2_ENST00000469372.1_Splice_Site				P00751	CFAB_HUMAN			8	1051	+								B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Splice_Site	SNP	ENST00000299367.5	37		CCDS4728.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123604	0.56613	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000383177;ENST00000556679;ENST00000456570;ENST00000477310	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5398	0.56163	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFB;C2;XXbac-BPG116M5.17	32019077	1.000000	0.71417	0.995000	0.50966	0.698000	0.40448	3.951000	0.56684	2.222000	0.72286	0.374000	0.22700	.		0.552	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		Intron	24	28	0	0	0	0.00333	0	24	28					C	31911098	T	C	31911098	5	2	238	1	0	0	0	0	0	0	1	0	2074	1652	57	3	1576	3	C2	6	31911098	Splice_Site	SNP	T	TCGA-HT-7475-01A-11D-2024-08		31911098	139203969	16	28275											
FANCE	2178	broad.mit.edu	37	chr6	35423550	35423550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttgctgcgattgccccGgatatgccagaggaacctga	12	11	0	2	rs369035099		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:35423550G>A	ENST00000229769.2	+	2	460	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	92					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CGATTGCCCCGGATATGCCAG	0.592			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"N, F, S"	"Fanconi anemia, complementation group E"			L		"AML, leukemia"			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(274-276)cGg>cAg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	87	93	91		275	-10.7	0	6		91	0,8600		0,0,4300	no	missense	FANCE	NM_021922.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	92/537	35423550	1,13005	2203	4300	6503	SO:0001583	missense	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35423550G>A	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.275G>A	6.37:g.35423550G>A	ENSP00000229769:p.Arg92Gln						p.R92Q	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			2	460	+			92					A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	c.275G>A	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	G	2.543	-0.305832	0.05495	2.27E-4	0.0	ENSG00000112039	ENST00000229769	T	0.40225	1.04	5.37	-10.7	0.00240	.	4.002200	0.00481	N	0.000131	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04579	-1.0941	10	0.14252	T	0.57	-0.04	6.6991	0.23215	0.095:0.3941:0.3749:0.1359	.	92	Q9HB96	FANCE_HUMAN	Q	92	ENSP00000229769:R92Q	ENSP00000229769:R92Q	R	+	2	0	FANCE	35531528	0.000000	0.05858	0.000000	0.03702	0.740000	0.42216	-3.615000	0.00414	-5.169000	0.00020	-1.267000	0.01435	CGG		0.592	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			47	41	0	0	0	0.01441	0	47	41					A	35423550	G	A	35423550	3	1	238	1	0	0	0	0	1	0	0	0	5666	1116	39	1	281	1	FANCE	6	35423550	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	3512452	35423550	135691517	17	28276											
AKAP9	10142	broad.mit.edu	37	chr7	91736724	91736724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatattaggtcccctttacCatttcagaataggtaagaat	6	8	1	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:91736724C>T	ENST00000359028.2	+	48	11771	c.11546C>T	c.(11545-11547)cCa>cTa	p.P3849L	AKAP9_ENST00000356239.3_Missense_Mutation_p.P3845L|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3795L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3849					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCCCTTTACCATTTCAGAAT	0.353			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11545-11547)cCa>cTa		A kinase (PRKA) anchor protein 9							99	95	96					7																	91736724		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736724C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11546C>T	7.37:g.91736724C>T	ENSP00000351922:p.Pro3849Leu					AKAP9_ENST00000358100.2_Missense_Mutation_p.P3795L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3845L	p.P3849L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11771	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3849					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11546C>T		.	.	.	.	.	.	.	.	.	.	C	14.56	2.573046	0.45902	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03524	4.0;4.0;4.01;3.9	5.31	3.35	0.38373	.	0.000000	0.37219	N	0.002189	T	0.04182	0.0116	L	0.29908	0.895	0.35983	D	0.836143	P;P;P;P;P	0.49090	0.514;0.902;0.868;0.919;0.919	B;P;B;P;P	0.46718	0.106;0.525;0.276;0.466;0.466	T	0.54357	-0.8306	10	0.33141	T	0.24	.	8.4914	0.33102	0.4745:0.4083:0.1172:0.0	.	1120;3849;3849;3845;3837	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	L	3845;3849;3795;3849;1691	ENSP00000348573:P3845L;ENSP00000351922:P3849L;ENSP00000350813:P3795L;ENSP00000378042:P1691L	ENSP00000348573:P3845L	P	+	2	0	AKAP9	91574660	0.916000	0.31088	0.997000	0.53966	0.992000	0.81027	1.632000	0.37102	1.471000	0.48121	0.655000	0.94253	CCA		0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		89	32	0	0	0	0.01441	0	89	32					T	91736724	C	T	91736724	3	4	238	1	0	0	0	0	1	0	0	0	459	594	21	2	11724	2	AKAP9	7	91736724	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		91736724	67401939	18	28277											
PIK3CG	5294	broad.mit.edu	37	chr7	106508596	106508596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgaccccaagctctacgCcatgcacccgtgggtgacgt	11	17	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106508596C>T	ENST00000359195.3	+	2	900	c.590C>T	c.(589-591)gCc>gTc	p.A197V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A197V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A197V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	197					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTCTACGCCATGCACCCG	0.632																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(589-591)gCc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							79	81	81					7																	106508596		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508596C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.590C>T	7.37:g.106508596C>T	ENSP00000352121:p.Ala197Val					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A197V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A197V	p.A197V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	900	+			197					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.590C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674338	0.47781	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69175	-0.38;-0.38;-0.38	5.5	5.5	0.81552	.	0.102370	0.64402	N	0.000002	T	0.60843	0.2300	L	0.56769	1.78	0.58432	D	0.999997	P	0.36616	0.561	B	0.29942	0.109	T	0.59783	-0.7389	10	0.12766	T	0.61	-22.4705	19.7537	0.96281	0.0:1.0:0.0:0.0	.	197	P48736	PK3CG_HUMAN	V	197	ENSP00000392258:A197V;ENSP00000419260:A197V;ENSP00000352121:A197V	ENSP00000352121:A197V	A	+	2	0	PIK3CG	106295832	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	7.729000	0.84864	2.736000	0.93811	0.591000	0.81541	GCC		0.632	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			21	149	0	0	0	0.012319	0	21	149					T	106508596	C	T	106508596	3	4	238	1	0	0	0	0	1	0	0	0	11916	739	26	2	592	2	PIK3CG	7	106508596	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	14771872	106508596	52630067	19	28278											
COG5	10466	broad.mit.edu	37	chr7	106938740	106938740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccataagtcattataaagaCgtaataatttagggtattct	6	5	2	1	rs35258567	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106938740C>T	ENST00000347053.3	-	12	1303	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_ENST00000393603.2_Missense_Mutation_p.R418H|COG5_ENST00000297135.3_Missense_Mutation_p.R418H	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	418					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						ATTATAAAGACGTAATAATTT	0.343													C|||	7	0.00139776	0.0053	0.0	5008	,	,		12763	0.0		0.0	False		,,,				2504	0.0					ENST00000393603.2																			0				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						c.(1252-1254)cGt>cAt		component of oligomeric golgi complex 5		C	HIS/ARG,HIS/ARG,HIS/ARG	15,4391	22.3+/-47.3	0,15,2188	89	84	86		1253,1253,1253	4.8	1	7	dbSNP_126	86	0,8600		0,0,4300	yes	missense,missense,missense	COG5	NM_001161520.1,NM_006348.3,NM_181733.2	29,29,29	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	probably-damaging,probably-damaging,probably-damaging	418/824,418/861,418/840	106938740	15,12991	2203	4300	6503	SO:0001583	missense	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106938740C>T	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.1253G>A	7.37:g.106938740C>T	ENSP00000334703:p.Arg418His					COG5_ENST00000297135.3_Missense_Mutation_p.R418H|COG5_ENST00000347053.3_Missense_Mutation_p.R418H	p.R418H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			12	1524	-			418					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1253G>A	CCDS5743.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.56	2.571964	0.45798	0.003404	0.0	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.71934	-0.61;-0.61;-0.61	5.68	4.8	0.61643	.	0.055380	0.64402	D	0.000001	T	0.67173	0.2865	M	0.76170	2.325	0.49687	D	0.999819	B;P	0.41366	0.203;0.747	B;B	0.31495	0.026;0.131	T	0.72191	-0.4365	10	0.56958	D	0.05	-11.5895	14.608	0.68495	0.0:0.9302:0.0:0.0698	rs35258567	418;418	Q9UP83;Q9UP83-2	COG5_HUMAN;.	H	418	ENSP00000334703:R418H;ENSP00000297135:R418H;ENSP00000377228:R418H	ENSP00000297135:R418H	R	-	2	0	COG5	106725976	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.194000	0.58393	1.417000	0.47077	-0.142000	0.14014	CGT		0.343	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			82	31	0	0	0	0.01441	0	82	31					T	106938740	C	T	106938740	3	4	238	1	0	0	0	0	1	0	0	0	3661	536	19	1	1377	1	COG5	7	106938740	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	430144	106938740	52199923	20	28279											
FGF20	26281	broad.mit.edu	37	chr8	16850596	16850596	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacttcaagtgtacatcagTaggtccttgtacaattctgg	9	9	3	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:16850596T>C	ENST00000180166.5	-	3	769	c.621A>G	c.(619-621)ctA>ctG	p.L207L		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	207					cell-cell signaling (GO:0007267)|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)|inner ear receptor cell differentiation (GO:0060113)|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 ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTACATCAGTAGGTCCTTGT	0.423																																						ENST00000180166.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11						c.(619-621)ctA>ctG		fibroblast growth factor 20							172	152	159					8																	16850596		2203	4300	6503	SO:0001819	synonymous_variant	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850596T>C	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.621A>G	8.37:g.16850596T>C							p.L207L	NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	769	-			207					B2RPH5	Silent	SNP	ENST00000180166.5	37	c.621A>G	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	T	7.817	0.717005	0.15372	.	.	ENSG00000078579	ENST00000519941	.	.	.	5.75	-2.6	0.06190	.	.	.	.	.	T	0.52403	0.1732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	8.7088	0.34371	0.0:0.4206:0.2178:0.3616	.	.	.	.	A	109	.	.	T	-	1	0	FGF20	16894967	0.000000	0.05858	0.965000	0.40720	0.990000	0.78478	-2.228000	0.01209	-0.255000	0.09486	-0.256000	0.11100	ACT		0.423	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			36	67	0	0	0	0.011902	0	36	67					C	16850596	T	C	16850596	2	2	238	1	0	0	0	0	0	0	0	1	5849	1625	57	3		3	FGF20	8	16850596	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		16850596	129513426	21	28280											
TMEM66	51669	broad.mit.edu	37	chr8	29923548	29923548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtttgaacataccgaaTagctgcccgagcctccatga	9	12	0	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:29923548T>C	ENST00000256255.6	-	5	1207	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	TMEM66_ENST00000545648.1_Missense_Mutation_p.Y145C|TMEM66_ENST00000536273.1_Missense_Mutation_p.Y145C	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		317					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		ACATACCGAATAGCTGCCCGA	0.473																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(949-951)tAt>tGt		transmembrane protein 66							143	132	136					8																	29923548		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29923548T>C																												ENST00000256255.6:c.950A>G	8.37:g.29923548T>C	ENSP00000256255:p.Tyr317Cys					TMEM66_ENST00000545648.1_Missense_Mutation_p.Y145C|TMEM66_ENST00000536273.1_Missense_Mutation_p.Y145C	p.Y317C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	5	1207	-			317					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.950A>G	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.25|15.25	2.777785|2.777785	0.49786|0.49786	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000521265|ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127	.|T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96	5.03|5.03	2.41|2.41	0.29592|0.29592	.|.	.|0.738868	.|0.12972	.|N	.|0.424091	T|T	0.52419|0.52419	0.1733|0.1733	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|D;D	.|0.59767	.|0.986;0.986	.|P;P	.|0.57548	.|0.823;0.823	T|T	0.36456|0.36456	-0.9747|-0.9747	5|10	.|0.39692	.|T	.|0.17	-24.2295|-24.2295	9.7889|9.7889	0.40692|0.40692	0.0:0.0:0.3491:0.6509|0.0:0.0:0.3491:0.6509	.|.	.|317;317	.|B3KQQ4;Q96BY9	.|.;TMM66_HUMAN	V|C	317|317;145;281;145;191	.|ENSP00000256255:Y317C;ENSP00000441351:Y145C;ENSP00000441723:Y145C;ENSP00000428323:Y191C	.|ENSP00000256255:Y317C	I|Y	-|-	1|2	0|0	TMEM66|TMEM66	30043090|30043090	0.393000|0.393000	0.25237|0.25237	0.131000|0.131000	0.22000|0.22000	0.028000|0.028000	0.11728|0.11728	-0.260000|-0.260000	0.08708|0.08708	0.743000|0.743000	0.32719|0.32719	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.473	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			5	75	0	0	0	0.000602	0	5	75					C	29923548	T	C	29923548	3	2	238	1	0	0	0	0	1	0	0	0	16192	1406	49	3	77	3	TMEM66	8	29923548	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	13072952	29923548	116440474	22	28281											
ZMAT4	79698	broad.mit.edu	37	chr8	40532420	40532420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccggagcagtgtccatcCgtgggggcttaagtgggctc	15	12	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:40532420C>T	ENST00000297737.6	-	5	526	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	127						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTGTCCATCCGTGGGGGCTT	0.527																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(379-381)cGg>cAg		zinc finger, matrin-type 4							125	126	126					8																	40532420		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532420C>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.380G>A	8.37:g.40532420C>T	ENSP00000297737:p.Arg127Gln					ZMAT4_ENST00000315769.7_Intron	p.R127Q	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	526	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	127					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.380G>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858317	0.32791	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.42513	0.97;0.97	5.94	4.97	0.65823	.	0.593171	0.18818	N	0.130308	T	0.22322	0.0538	N	0.14661	0.345	0.09310	N	0.999999	B	0.15930	0.015	B	0.09377	0.004	T	0.12863	-1.0531	10	0.13853	T	0.58	-24.1197	8.1474	0.31119	0.0:0.8017:0.0:0.1983	.	127	Q9H898	ZMAT4_HUMAN	Q	127	ENSP00000297737:R127Q;ENSP00000428423:R127Q	ENSP00000297737:R127Q	R	-	2	0	ZMAT4	40651577	0.320000	0.24616	0.880000	0.34516	0.848000	0.48234	2.695000	0.47043	2.817000	0.96982	0.557000	0.71058	CGG		0.527	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		56	106	0	0	0	0.01441	0	56	106					T	40532420	C	T	40532420	3	4	238	1	0	0	0	0	1	0	0	0	17691	652	23	1	321	1	ZMAT4	8	40532420	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	10608872	40532420	105831602	23	28282											
PKHD1L1	93035	broad.mit.edu	37	chr8	110493686	110493686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagattaatcggtggctggGaagataacccttttaaagga	12	5	0	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:110493686G>A	ENST00000378402.5	+	56	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3118	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				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)			CGGTGGCTGGGAAGATAACCC	0.378										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(9352-9354)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							68	62	64					8																	110493686		1807	4066	5873	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110493686G>A	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.9352G>A	8.37:g.110493686G>A	ENSP00000367655:p.Glu3118Lys	HNSCC(38;0.096)					p.E3118K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		56	9456	+			3118			G8 2.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9352G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225856	0.79576	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.89875	-2.58;-2.58	5.77	5.77	0.91146	G8 domain (2);	0.450396	0.24005	N	0.042428	D	0.93262	0.7853	M	0.77486	2.375	0.25459	N	0.987938	P	0.51240	0.943	P	0.56960	0.81	D	0.88007	0.2760	10	0.46703	T	0.11	.	17.4723	0.87649	0.0:0.0:1.0:0.0	.	3118	Q86WI1	PKHL1_HUMAN	K	3118;46	ENSP00000367655:E3118K;ENSP00000437376:E46K	ENSP00000367655:E3118K	E	+	1	0	PKHD1L1	110562862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.565000	0.45939	2.724000	0.93272	0.650000	0.86243	GAA		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		15	7	0	0	0	0.004007	0	15	7					A	110493686	G	A	110493686	3	1	238	1	0	0	0	0	1	0	0	0	11972	1175	41	2	9574	2	PKHD1L1	8	110493686	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	69961266	110493686	35870336	24	28283											
COL22A1	169044	broad.mit.edu	37	chr8	139791795	139791795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccggctctcccagctctCctggctccccctgaacaaac	7	21	2	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:139791795C>T	ENST00000303045.6	-	14	2107	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G554E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	554	Collagen-like 2.|Gly-rich.|Pro-rich.				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(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAGCTCTCCTGGCTCCCC	0.622										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1660-1662)gGa>gAa		collagen, type XXII, alpha 1							52	57	55					8																	139791795		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139791795C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1661G>A	8.37:g.139791795C>T	ENSP00000303153:p.Gly554Glu	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G554E	p.G554E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		14	2107	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		554			Collagen-like 2.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1661G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	8.161	0.789532	0.16258	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.99353	-5.77;-4.61;-5.77	4.18	4.18	0.49190	.	0.000000	0.47093	U	0.000245	D	0.99573	0.9846	H	0.97131	3.945	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.97750	1.0214	10	0.87932	D	0	.	12.2919	0.54823	0.0:1.0:0.0:0.0	.	554	Q8NFW1	COMA1_HUMAN	E	554;554;4	ENSP00000303153:G554E;ENSP00000387655:G554E;ENSP00000428244:G4E	ENSP00000303153:G554E	G	-	2	0	COL22A1	139860977	0.999000	0.42202	0.988000	0.46212	0.253000	0.25986	3.081000	0.50120	2.615000	0.88500	0.555000	0.69702	GGA		0.622	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		20	71	0	0	0	0.003954	0	20	71					T	139791795	C	T	139791795	3	4	238	1	0	0	0	0	1	0	0	0	3681	855	30	2	3427	2	COL22A1	8	139791795	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	29298109	139791795	6572227	25	28284											
DUPD1	338599	broad.mit.edu	37	chr10	76803657	76803657	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccacgccgtggtactGgatgtccatgtcgcggtagt	14	12	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:76803657G>A	ENST00000338487.5	-	2	318	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	107	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGTGGTACTGGATGTCCATG	0.642																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(319-321)Cag>Tag		dual specificity phosphatase and pro isomerase domain containing 1							97	88	91					10																	76803657		2203	4300	6503	SO:0001587	stop_gained	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803657G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.319C>T	10.37:g.76803657G>A	ENSP00000340609:p.Gln107*						p.Q107*	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			2	318	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		107			Tyrosine-protein phosphatase.		B2RP93	Nonsense_Mutation	SNP	ENST00000338487.5	37	c.319C>T	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332629	0.60853	.	.	ENSG00000188716	ENST00000338487	.	.	.	4.83	2.96	0.34315	.	0.439666	0.23263	N	0.050103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-22.4176	9.7587	0.40519	0.0:0.7738:0.1476:0.0786	.	.	.	.	X	107	.	ENSP00000340609:Q107X	Q	-	1	0	DUPD1	76473663	0.049000	0.20398	1.000000	0.80357	0.557000	0.35523	1.199000	0.32235	0.441000	0.26529	-0.171000	0.13296	CAG		0.642	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		35	51	0	0	0	0.004878	0	35	51					A	76803657	G	A	76803657	4	1	238	1	0	0	0	0	0	1	0	0	4804	1357	47	2	351	2	DUPD1	10	76803657	Nonsense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		76803657	58731090	26	28285											
HPS6	79803	broad.mit.edu	37	chr10	103826085	103826085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgctgttgcttgactTcgggggcactgtgagcctat	15	10	0	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:103826085T>G	ENST00000299238.5	+	1	939	c.854T>G	c.(853-855)tTc>tGc	p.F285C		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	285					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)		TTGCTTGACTTCGGGGGCACT	0.682									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(853-855)tTc>tGc		Hermansky-Pudlak syndrome 6							38	44	42					10																	103826085		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826085T>G	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.854T>G	10.37:g.103826085T>G	ENSP00000299238:p.Phe285Cys						p.F285C	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	939	+		Colorectal(252;0.122)	285					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.854T>G	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	T	8.726	0.915412	0.17907	.	.	ENSG00000166189	ENST00000299238	T	0.76709	-1.04	5.26	0.118	0.14667	.	1.430970	0.04053	N	0.305124	T	0.66934	0.2840	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44544	-0.9321	10	0.37606	T	0.19	-6.0E-4	1.0466	0.01571	0.2393:0.1991:0.3638:0.1978	.	285	Q86YV9	HPS6_HUMAN	C	285	ENSP00000299238:F285C	ENSP00000299238:F285C	F	+	2	0	HPS6	103816075	0.000000	0.05858	0.010000	0.14722	0.504000	0.33889	-0.300000	0.08243	0.091000	0.17302	0.459000	0.35465	TTC		0.682	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		18	36	0	0	0	0.007413	0	18	36					G	103826085	T	G	103826085	3	3	238	1	0	0	0	0	1	0	0	0	7343	1783	62	5	856	5	HPS6	10	103826085	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	27022428	103826085	31708662	27	28286											
PHF21A	51317	broad.mit.edu	37	chr11	45959824	45959824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacatcagtaactggccacTttttctgcaaacgctgcaaa	7	12	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:45959824T>C	ENST00000418153.2	-	15	1688	c.1489A>G	c.(1489-1491)Agt>Ggt	p.S497G	PHF21A_ENST00000323180.6_Missense_Mutation_p.S451G|PHF21A_ENST00000257821.4_Missense_Mutation_p.S498G|PHF21A_ENST00000527753.1_5'UTR			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	497	Required for transcriptional repression.				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						AACTGGCCACTTTTTCTGCAA	0.403																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1492-1494)Agt>Ggt		PHD finger protein 21A							92	87	88					11																	45959824		2202	4299	6501	SO:0001583	missense	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45959824T>C	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.1489A>G	11.37:g.45959824T>C	ENSP00000398824:p.Ser497Gly					PHF21A_ENST00000323180.6_Missense_Mutation_p.S451G|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000418153.2_Missense_Mutation_p.S497G	p.S498G	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			15	2115	-			497			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	c.1492A>G	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305264	0.40795	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	D;D;D	0.84442	-1.85;-1.85;-1.85	5.76	5.76	0.90799	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	N	0.02158	-0.66	0.80722	D	1	B;P;D	0.58268	0.007;0.533;0.982	B;B;D	0.68943	0.028;0.375;0.961	T	0.75869	-0.3165	10	0.02654	T	1	-5.3722	16.13	0.81422	0.0:0.0:0.0:1.0	.	497;451;498	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	G	498;451;497	ENSP00000257821:S498G;ENSP00000323152:S451G;ENSP00000398824:S497G	ENSP00000257821:S498G	S	-	1	0	PHF21A	45916400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.005000	0.88553	2.215000	0.71742	0.529000	0.55759	AGT		0.403	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		26	34	0	0	0	0.008361	0	26	34					C	45959824	T	C	45959824	3	2	238	1	0	0	0	0	1	0	0	0	11833	1609	56	3	569	3	PHF21A	11	45959824	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08		45959824	89046692	28	28287											
OR5M3	219482	broad.mit.edu	37	chr11	56237959	56237959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaactctgtcacatcGgtgaaattgagcattttctg	9	7	3	4	rs559337190		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:56237959G>A	ENST00000312240.2	-	1	55	c.15C>T	c.(13-15)acC>acT	p.T5T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	5						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(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTCACATCGGTGAAATTGA	0.328																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(13-15)acC>acT		olfactory receptor, family 5, subfamily M, member 3							50	46	47					11																	56237959		2201	4296	6497	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237959G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.15C>T	11.37:g.56237959G>A							p.T5T	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	55	-	Esophageal squamous(21;0.00448)		5					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.15C>T	CCDS31532.1																																																																																				0.328	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		19	36	0	0	0	0.008871	0	19	36					A	56237959	G	A	56237959	2	1	238	1	0	0	0	0	0	0	0	1	11175	1103	39	1		1	OR5M3	11	56237959	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	10278135	56237959	78768557	29	28288											
OR4D6	219983	broad.mit.edu	37	chr11	59224535	59224535	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggtcttctttgctgtGtatgtagcaacagtcctggg	12	7	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:59224535G>T	ENST00000300127.2	+	1	125	c.102G>T	c.(100-102)gtG>gtT	p.V34V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	34						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTGCTGTGTATGTAGCAA	0.458																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(100-102)gtG>gtT		olfactory receptor, family 4, subfamily D, member 6							232	211	218					11																	59224535		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224535G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.102G>T	11.37:g.59224535G>T							p.V34V	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	125	+			34					B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.102G>T	CCDS31562.1																																																																																				0.458	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		6	94	1	0	8.12818e-05	0.001984	9.11675e-05	6	94					T	59224535	G	T	59224535	2	4	238	1	0	0	0	0	0	0	0	1	11058	1364	48	4		4	OR4D6	11	59224535	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	2986576	59224535	75781981	30	28289											
USP35	57558	broad.mit.edu	37	chr11	77916930	77916930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcatcaagcagctgctgGggcaggatgcctggacttcg	14	12	1	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:77916930G>A	ENST00000529308.1	+	7	1501	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	USP35_ENST00000530267.1_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.G145R|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	414					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)			GCAGCTGCTGGGGCAGGATGC	0.587																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1240-1242)Ggg>Agg		ubiquitin specific peptidase 35							119	123	122					11																	77916930		1948	4138	6086	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77916930G>A	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.1240G>A	11.37:g.77916930G>A	ENSP00000431876:p.Gly414Arg					USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.G145R|USP35_ENST00000441408.2_5'UTR	p.G414R	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		7	1501	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		414						Missense_Mutation	SNP	ENST00000529308.1	37	c.1240G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048047	0.55110	.	.	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.13778	2.56;3.53;3.41	4.55	4.55	0.56014	.	0.000000	0.53938	D	0.000057	T	0.25865	0.0630	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.02075	-1.1218	10	0.22706	T	0.39	-48.5471	17.4936	0.87711	0.0:0.0:1.0:0.0	.	414	Q9P2H5	UBP35_HUMAN	R	170;414;145	ENSP00000436001:G170R;ENSP00000431876:G414R;ENSP00000434942:G145R	ENSP00000434942:G145R	G	+	1	0	USP35	77594578	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.268000	0.72552	2.355000	0.79922	0.591000	0.81541	GGG		0.587	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		71	89	0	0	0	0.01441	0	71	89					A	77916930	G	A	77916930	3	1	238	1	0	0	0	0	1	0	0	0	17063	1232	43	2	1262	2	USP35	11	77916930	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	18692395	77916930	57089586	31	28290											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438610	6438610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgtggcctcgcgccgCggcgtgcgccgcctccaggt	15	18	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:6438610C>T	ENST00000162749.2	-	10	1535	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.P369P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	412	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.			Missing (in Ref. 5; AAA36756). {ECO:0000305}.	apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|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 Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTCGCGCCGCGGCGTGCGCC	0.721																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1234-1236)ccG>ccA		tumor necrosis factor receptor superfamily, member 1A							8	9	9					12																	6438610		2125	4140	6265	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438610C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1236G>A	12.37:g.6438610C>T						TNFRSF1A_ENST00000540022.1_Silent_p.P369P	p.P412P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1535	-			412	Missing (in Ref. 5; AAA36756).		Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.1236G>A	CCDS8542.1																																																																																				0.721	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		5	6	0	0	0	0.000602	0	5	6					T	6438610	C	T	6438610	2	4	238	1	0	0	0	0	0	0	0	1	16290	755	27	1		1	TNFRSF1A	12	6438610	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		6438610	127413285	32	28291											
MLL2	8085	broad.mit.edu	37	chr12	49446390	49446390	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggggccctggttccttgggTtgcatagaggtcacgtgccc	15	11	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:49446390T>C	ENST00000301067.7	-	9	1214	c.1215A>G	c.(1213-1215)caA>caG	p.Q405Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	405	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)										GTTCCTTGGGTTGCATAGAGG	0.557																																						ENST00000301067.7																			0											c.(1213-1215)caA>caG		lysine (K)-specific methyltransferase 2D							63	62	63					12																	49446390		1983	4150	6133	SO:0001819	synonymous_variant	8085							g.chr12:49446390T>C	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.1215A>G	12.37:g.49446390T>C							p.Q405Q	NM_003482.3	NP_003473.3					9	1214	-								O14687	Silent	SNP	ENST00000301067.7	37	c.1215A>G	CCDS44873.1																																																																																				0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	10	0	0	0	0.013537	0	12	10					C	49446390	T	C	49446390	2	2	238	1	0	0	0	0	0	0	0	1	9621	1722	60	3		3	MLL2	12	49446390	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08	43007780	49446390	84405505	33	28292											
LRP1	4035	broad.mit.edu	37	chr12	57547993	57547993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattcgtactctccagacGtggaacagatggccatcgac	9	12	2	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:57547993G>A	ENST00000243077.3	+	7	1310	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	LRP1_ENST00000554174.1_Missense_Mutation_p.V282M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	282					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTCCAGACGTGGAACAGAT	0.527																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(844-846)Gtg>Atg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						137	131	133					12																	57547993		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57547993G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.844G>A	12.37:g.57547993G>A	ENSP00000243077:p.Val282Met					LRP1_ENST00000554174.1_Missense_Mutation_p.V282M	p.V282M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	7	1310	+			282					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.844G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864211	0.51482	.	.	ENSG00000123384	ENST00000243077;ENST00000554174	D;D	0.92149	-2.98;-2.98	4.63	4.63	0.57726	Six-bladed beta-propeller, TolB-like (1);	0.096626	0.44097	D	0.000492	D	0.92267	0.7547	M	0.78223	2.4	0.43874	D	0.996482	B;D	0.61697	0.44;0.99	B;P	0.45310	0.014;0.476	D	0.92186	0.5755	10	0.39692	T	0.17	.	15.3664	0.74526	0.0:0.0:1.0:0.0	.	282;282	Q07954;Q6PJ72	LRP1_HUMAN;.	M	282	ENSP00000243077:V282M;ENSP00000451737:V282M	ENSP00000243077:V282M	V	+	1	0	LRP1	55834260	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.814000	0.99346	2.309000	0.77851	0.557000	0.71058	GTG		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	156	0	0	0	0.004482	0	7	156					A	57547993	G	A	57547993	3	1	238	1	0	0	0	0	1	0	0	0	8951	1145	40	1	870	1	LRP1	12	57547993	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	8101603	57547993	76303902	34	28293											
SMOC1	64093	broad.mit.edu	37	chr14	70442501	70442502	+	Frame_Shift_Del	DEL	TC	TC	-													ggaagcccatcagtggctctTctgtgcagaataaaactcct							TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:70442501_70442502delTC	ENST00000381280.4	+	4	701_702	c.448_449delTC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGTGGCTCTTCTGTGCAGAAT	0.525																																						ENST00000381280.4																			1	Substitution - Missense(1)	p.S150F(1)	skin(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(448-450)tfs		SPARC related modular calcium binding 1																																				SO:0001589	frameshift_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70442501_70442502delTC	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.448_449delTC	14.37:g.70442501_70442502delTC	ENSP00000370680:p.Ser150fs					SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	4	701_702	+			150			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Frame_Shift_Del	DEL	ENST00000381280.4	37	c.448_449delTC	CCDS9798.1																																																																																				0.525	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			24	41						24	41	---	---	---	---	-	70442502	TC	-	70442501	7	5	238	1	0	1	0	1	0	0	0	0	14801	1783	62	0	462	0	SMOC1	14	70442501	Frame_Shift_Del	DEL	TC	TCGA-HT-7475-01A-11D-2024-08		70442501	36907039	35	28294											
AHNAK2	113146	broad.mit.edu	37	chr14	105409595	105409595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctgggggcccttgaggtCcactttgggcatcttgaaac	12	10	2	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:105409595C>T	ENST00000333244.5	-	7	12312	c.12193G>A	c.(12193-12195)Gac>Aac	p.D4065N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4065						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)			CCCTTGAGGTCCACTTTGGGC	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12193-12195)Gac>Aac		AHNAK nucleoprotein 2							152	158	156					14																	105409595		1837	4084	5921	SO:0001583	missense	113146					nucleus		g.chr14:105409595C>T	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.12193G>A	14.37:g.105409595C>T	ENSP00000353114:p.Asp4065Asn					AHNAK2_ENST00000557457.1_Intron	p.D4065N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12312	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4065					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12193G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	13.93	2.385273	0.42308	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	2.86	2.86	0.33363	.	2.047700	0.04218	U	0.333040	T	0.11879	0.0289	L	0.61218	1.895	0.09310	N	1	D	0.69078	0.997	D	0.72338	0.977	T	0.39522	-0.9610	10	0.37606	T	0.19	.	13.6473	0.62290	0.0:1.0:0.0:0.0	.	4065	Q8IVF2	AHNK2_HUMAN	N	4065	ENSP00000353114:D4065N	ENSP00000353114:D4065N	D	-	1	0	AHNAK2	104480640	0.009000	0.17119	0.485000	0.27403	0.431000	0.31685	0.091000	0.15046	1.938000	0.56188	0.556000	0.70494	GAC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		93	182	0	0	0	0.01441	0	93	182					T	105409595	C	T	105409595	3	4	238	1	0	0	0	0	1	0	0	0	415	855	30	2	5198	2	AHNAK2	14	105409595	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	34967094	105409595	1939945	36	28295											
SCNN1B	6338	broad.mit.edu	37	chr16	23382718	23382718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgagcagaggtcatacCccttcatcagagatgagggc	11	11	4	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr16:23382718C>T	ENST00000343070.2	+	6	1155	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	327					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)	GAGGTCATACCCCTTCATCAG	0.602																																						ENST00000343070.2																			0				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						c.(979-981)Ccc>Tcc		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						91	70	77					16																	23382718		2197	4300	6497	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23382718C>T	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.979C>T	16.37:g.23382718C>T	ENSP00000345751:p.Pro327Ser					SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372S	p.P327S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	6	1155	+			327					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.979C>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220961	0.79464	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.70749	-0.51;-0.51	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	D	0.85561	0.5725	M	0.84683	2.71	0.58432	D	0.999998	D	0.58620	0.983	D	0.71656	0.974	D	0.88054	0.2789	10	0.72032	D	0.01	-8.979	17.3366	0.87283	0.0:1.0:0.0:0.0	.	327	P51168	SCNNB_HUMAN	S	327;372	ENSP00000345751:P327S;ENSP00000302874:P372S	ENSP00000302874:P372S	P	+	1	0	SCNN1B	23290219	1.000000	0.71417	0.998000	0.56505	0.633000	0.38033	5.759000	0.68785	2.327000	0.79052	0.655000	0.94253	CCC		0.602	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			14	32	0	0	0	0.001855	0	14	32					T	23382718	C	T	23382718	3	4	238	1	0	0	0	0	1	0	0	0	13928	623	22	2	997	2	SCNN1B	16	23382718	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		23382718	66972035	37	28296											
EIF4A1	1973	broad.mit.edu	37	chr17	7477923	7477923	+	Frame_Shift_Del	DEL	C	C	-													aacctctcggagtcccttctCcgtggcatctacgcgtatgg							TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7477923delC	ENST00000293831.8	+	3	148	c.132delC	c.(130-132)ctcfs	p.L44fs	SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.L44fs|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.L44fs|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000380512.5_Frame_Shift_Del_p.L28fs	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	44					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)|organ regeneration (GO:0031100)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|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)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTCCCTTCTCCGTGGCATCT	0.478																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(130-132)ctfs		eukaryotic translation initiation factor 4A1							97	90	93					17																	7477923		2203	4300	6503	SO:0001589	frameshift_variant	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7477923delC	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.132delC	17.37:g.7477923delC	ENSP00000293831:p.Leu44fs					EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.L44fs|EIF4A1_ENST00000380512.5_Frame_Shift_Del_p.L28fs|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.L44fs	p.L44fs	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			3	148	+			44					B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Frame_Shift_Del	DEL	ENST00000293831.8	37	c.132delC	CCDS11113.1																																																																																				0.478	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		28	52						28	52	---	---	---	---	-	7477923	C	-	7477923	7	5	238	1	0	1	0	1	0	0	0	0	5024	842	30	0	142	0	EIF4A1	17	7477923	Frame_Shift_Del	DEL	C	TCGA-HT-7475-01A-11D-2024-08		7477923	73717287	38	28297											
TP53	7157	broad.mit.edu	37	chr17	7578226	7578226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcgaaaagtgtttctgTcatccaaatactccacacgc	6	11	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7578226T>C	ENST00000269305.4	-	6	812	c.623A>G	c.(622-624)gAc>gGc	p.D208G	TP53_ENST00000420246.2_Missense_Mutation_p.D208G|TP53_ENST00000359597.4_Missense_Mutation_p.D208G|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D208G|TP53_ENST00000445888.2_Missense_Mutation_p.D208G|TP53_ENST00000413465.2_Missense_Mutation_p.D208G	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	208	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (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.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(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)	AGTGTTTCTGTCATCCAAATA	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		40	Substitution - Missense(18)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)	p.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(1)	lung(6)|biliary_tract(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|stomach(2)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|thyroid(1)|soft_tissue(1)|skin(1)|eye(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						c.(622-624)gAc>gGc	Other conserved DNA damage response genes	tumor protein p53							145	128	134					17																	7578226		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578226T>C	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.623A>G	17.37:g.7578226T>C	ENSP00000269305:p.Asp208Gly	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)				TP53_ENST00000455263.2_Missense_Mutation_p.D208G|TP53_ENST00000359597.4_Missense_Mutation_p.D208G|TP53_ENST00000445888.2_Missense_Mutation_p.D208G|TP53_ENST00000413465.2_Missense_Mutation_p.D208G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D208G	p.D208G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	755	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	208		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.623A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026039	0.93518	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99871	-7.35;-7.35;-7.35;-7.35;-7.35;-7.35;-7.35;-7.35	5.41	5.41	0.78517	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	0.99829	0.9923	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.998;0.996;0.997	D;D;D;D;D;D;D	0.97110	1.0;0.991;0.993;0.998;0.99;0.991;0.986	D	0.96501	0.9371	10	0.87932	D	0	-22.6982	13.709	0.62656	0.0:0.0:0.0:1.0	.	169;208;208;115;208;208;208	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	208;208;208;208;208;208;197;115;76;115;76	ENSP00000410739:D208G;ENSP00000352610:D208G;ENSP00000269305:D208G;ENSP00000398846:D208G;ENSP00000391127:D208G;ENSP00000391478:D208G;ENSP00000425104:D76G;ENSP00000423862:D115G	ENSP00000269305:D208G	D	-	2	0	TP53	7518951	1.000000	0.71417	0.326000	0.25389	0.403000	0.30841	7.996000	0.88334	2.183000	0.69458	0.533000	0.62120	GAC		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	32	0	0	0	0.00499	0	17	32					C	7578226	T	C	7578226	3	2	238	1	0	0	0	0	1	0	0	0	16378	1667	58	3	671	3	TP53	17	7578226	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	100303	7578226	73616984	39	28298											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	12	12	0	3	rs11540654|rs587780066	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7579358C>G	ENST00000269305.4	-	4	518	c.329G>C	c.(328-330)cGt>cCt	p.R110P	TP53_ENST00000420246.2_Missense_Mutation_p.R110P|TP53_ENST00000359597.4_Missense_Mutation_p.R110P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R110P|TP53_ENST00000445888.2_Missense_Mutation_p.R110P|TP53_ENST00000413465.2_Missense_Mutation_p.R110P	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	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GAAGCCCAGACGGAAACCGTA	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)cGt>cCt	Other conserved DNA damage response genes	tumor protein p53							63	60	61					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>G	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.329G>C	17.37:g.7579358C>G	ENSP00000269305:p.Arg110Pro	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R110P|TP53_ENST00000359597.4_Missense_Mutation_p.R110P|TP53_ENST00000445888.2_Missense_Mutation_p.R110P|TP53_ENST00000413465.2_Missense_Mutation_p.R110P|TP53_ENST00000269305.4_Missense_Mutation_p.R110P	p.R110P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	461	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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	ENST00000269305.4	37	c.329G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937136	0.52972	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99764	-6.68;-6.68;-6.68;-6.68;-6.68;-6.68;-6.68;-6.68	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99456	0.9807	M	0.65498	2.005	0.09310	N	1	D;D;P;D;P;P;D	0.69078	0.997;0.991;0.936;0.965;0.911;0.907;0.984	P;D;P;P;P;P;P	0.67725	0.886;0.953;0.782;0.738;0.904;0.904;0.784	D	0.99881	1.1113	10	0.62326	D	0.03	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	110	ENSP00000410739:R110P;ENSP00000352610:R110P;ENSP00000269305:R110P;ENSP00000398846:R110P;ENSP00000391127:R110P;ENSP00000391478:R110P;ENSP00000424104:R110P;ENSP00000426252:R110P	ENSP00000269305:R110P	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	41	0	0	0	0.010504	0	21	41					G	7579358	C	G	7579358	3	3	238	1	0	0	0	0	1	0	0	0	16378	536	19	4	973	4	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1132	7579358	73615852	40	28299											
EZH1	2145	broad.mit.edu	37	chr17	40869993	40869993	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaacagcttaagaacataCcagcaaaaggaagcagtctg	9	9	1	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:40869993C>A	ENST00000428826.2	-	10	1145		c.e10+1		EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000590078.1_Splice_Site|EZH1_ENST00000585893.1_Splice_Site|EZH1_ENST00000592743.1_Splice_Site			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit						anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGAACATACCAGCAAAAGG	0.413																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.e10+1		enhancer of zeste homolog 1 (Drosophila)							140	128	132					17																	40869993		2203	4300	6503	SO:0001630	splice_region_variant	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40869993C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1023+1G>T	17.37:g.40869993C>A						EZH1_ENST00000592743.1_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000590078.1_Splice_Site|EZH1_ENST00000585893.1_Splice_Site				Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	10	1145	-		Breast(137;0.00104)						A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Splice_Site	SNP	ENST00000428826.2	37		CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577811	0.86645	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7604	0.88463	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EZH1	38123519	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.566000	0.82347	2.516000	0.84829	0.563000	0.77884	.		0.413	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	Intron	19	25	1	0	1.96292e-10	0.010504	2.26281e-10	19	25					A	40869993	C	A	40869993	5	1	238	1	0	0	0	0	0	0	1	0	5333	521	18	4	1267	4	EZH1	17	40869993	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	33290635	40869993	40325217	41	28300											
MPO	4353	broad.mit.edu	37	chr17	56357985	56357985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcagcaccttcagaGggctggggcgtggccagaat	16	11	1	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:56357985G>A	ENST00000225275.3	-	1	311	c.135C>T	c.(133-135)ccC>ccT	p.P45P	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Silent_p.P45P	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	45					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CACCTTCAGAGGGCTGGGGCG	0.597																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(133-135)ccC>ccT		myeloperoxidase	Cefdinir(DB00535)						61	55	57					17																	56357985		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56357985G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.135C>T	17.37:g.56357985G>A						MPO_ENST00000225275.3_Silent_p.P45P	p.P45P			P05164	PERM_HUMAN			1	311	-			45					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.135C>T	CCDS11604.1																																																																																				0.597	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			22	51	0	0	0	0.003954	0	22	51					A	56357985	G	A	56357985	2	1	238	1	0	0	0	0	0	0	0	1	9732	987	35	2		2	MPO	17	56357985	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	15487992	56357985	24837225	42	28301											
CD300LB	124599	broad.mit.edu	37	chr17	72518906	72518906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtctttagtcagaggttCggagaagttcatgtagatag	12	5	3	3	rs373107448		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:72518906C>T	ENST00000392621.1	-	4	692	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	193					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGAGGTTCGGAGAAGTTC	0.547																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(688-690)Gaa>Aaa		CD300 molecule-like family member b		T	LYS/GLU	1,4405	826.1+/-416.6	0,1,2202	145	120	129		688	-0.9	0	17		129	0,8600		0,0,4300	no	missense	CD300LB	NM_174892.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	230/239	72518906	1,13005	2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72518906C>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.688G>A	17.37:g.72518906C>T	ENSP00000376397:p.Glu230Lys						p.E230K	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			4	692	-			193					Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.688G>A	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	T	9.252	1.041088	0.19669	2.27E-4	0.0	ENSG00000178789	ENST00000392621;ENST00000314401	.	.	.	4.06	-0.884	0.10597	.	2.401200	0.02461	N	0.086549	T	0.18509	0.0444	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	9	0.30854	T	0.27	-6.5593	5.2993	0.15770	0.0:0.4583:0.3173:0.2244	.	193	A8K4G0	CLM7_HUMAN	K	193;230	.	ENSP00000317337:E230K	E	-	1	0	CD300LB	70030501	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.410000	0.07151	-0.127000	0.11661	-2.806000	0.00112	GAA		0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		32	47	0	0	0	0.003271	0	32	47					T	72518906	C	T	72518906	3	4	238	1	0	0	0	0	1	0	0	0	2999	893	31	1	32	1	CD300LB	17	72518906	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	16160921	72518906	8676304	43	28302											
PTPRM	5797	broad.mit.edu	37	chr18	7949178	7949178	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaccccacttgatacaGggcattgatgtgcgagatgc	10	13	0	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:7949178G>A	ENST00000332175.8	+	6	1700		c.e6-1		PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						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)				ACTTGATACAGGGCATTGATG	0.448																																						ENST00000332175.8																			0				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						c.e6-1		protein tyrosine phosphatase, receptor type, M							105	96	99					18																	7949178		2203	4300	6503	SO:0001630	splice_region_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7949178G>A	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.664-1G>A	18.37:g.7949178G>A						PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site		NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			6	1700	+		Colorectal(10;0.234)						A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	ENST00000332175.8	37		CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356981	0.61293	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRM	7939178	1.000000	0.71417	0.987000	0.45799	0.567000	0.35839	9.537000	0.98070	2.937000	0.99478	0.650000	0.86243	.		0.448	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		Intron	37	50	0	0	0	0.009718	0	37	50					A	7949178	G	A	7949178	5	1	238	1	0	0	0	0	0	0	1	0	12806	1014	35	2	685	2	PTPRM	18	7949178	Splice_Site	SNP	G	TCGA-HT-7475-01A-11D-2024-08		7949178	70128070	44	28303											
DSG1	1828	broad.mit.edu	37	chr18	28911710	28911710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgacgcagatgaaccgaaCaatttgaactcaaaaatagc	7	9	1	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:28911710C>A	ENST00000257192.4	+	6	776	c.564C>A	c.(562-564)aaC>aaA	p.N188K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			ATGAACCGAACAATTTGAACT	0.333																																						ENST00000257192.4																			0				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						c.(562-564)aaC>aaA		desmoglein 1							81	76	77					18																	28911710		2203	4299	6502	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28911710C>A	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.564C>A	18.37:g.28911710C>A	ENSP00000257192:p.Asn188Lys						p.N188K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		6	776	+			188			Cadherin 2.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.564C>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508800	0.64410	.	.	ENSG00000134760	ENST00000257192	T	0.51071	0.72	5.73	0.147	0.14838	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000007	T	0.63355	0.2504	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.63875	-0.6538	10	0.72032	D	0.01	.	10.6999	0.45920	0.0:0.3794:0.0:0.6206	.	188	Q02413	DSG1_HUMAN	K	188	ENSP00000257192:N188K	ENSP00000257192:N188K	N	+	3	2	DSG1	27165708	0.992000	0.36948	0.998000	0.56505	0.984000	0.73092	0.110000	0.15437	-0.005000	0.14395	-0.302000	0.09304	AAC		0.333	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		20	36	1	0	1.96292e-10	0.010504	2.26281e-10	20	36					A	28911710	C	A	28911710	3	1	238	1	0	0	0	0	1	0	0	0	4776	477	17	4	586	4	DSG1	18	28911710	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	20962532	28911710	49165538	45	28304											
NOL4	8715	broad.mit.edu	37	chr18	31709958	31709958	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagctacccgtcgtaaagaTagcttctcatctacccctac	5	15	2	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:31709958T>C	ENST00000261592.5	-	2	588	c.291A>G	c.(289-291)ctA>ctG	p.L97L	NOL4_ENST00000538587.1_Silent_p.L23L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.L97L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	97						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCGTAAAGATAGCTTCTCAT	0.373																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(289-291)ctA>ctG		nucleolar protein 4							87	79	82					18																	31709958		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31709958T>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.291A>G	18.37:g.31709958T>C						NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.L97L|NOL4_ENST00000538587.1_Silent_p.L23L|NOL4_ENST00000535475.1_5'UTR	p.L97L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			2	588	-			97					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.291A>G	CCDS11907.2																																																																																				0.373	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		18	27	0	0	0	0.006122	0	18	27					C	31709958	T	C	31709958	2	2	238	1	0	0	0	0	0	0	0	1	10524	1393	49	3		3	NOL4	18	31709958	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08	2798248	31709958	46367290	46	28305											
PIK3R2	5296	broad.mit.edu	37	chr19	18272833	18272833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagctgcttcaggaacaCttggaagagcaggaggttgc	15	7	1	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:18272833C>T	ENST00000593731.1	+	7	1433	c.873C>T	c.(871-873)caC>caT	p.H291H	PIK3R2_ENST00000222254.8_Silent_p.H291H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	291	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	TTCAGGAACACTTGGAAGAGC	0.612																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(871-873)caC>caT		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							103	103	103					19																	18272833		2203	4300	6503	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18272833C>T		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.873C>T	19.37:g.18272833C>T						PIK3R2_ENST00000222254.7_Silent_p.H291H	p.H291H			O00459	P85B_HUMAN			7	1433	+			291			Rho-GAP.		Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.873C>T	CCDS12371.1																																																																																				0.612	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		28	37	0	0	0	0.008361	0	28	37					T	18272833	C	T	18272833	2	4	238	1	0	0	0	0	0	0	0	1	11919	564	20	2		2	PIK3R2	19	18272833	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		18272833	40856150	47	28306											
ZNF506	440515	broad.mit.edu	37	chr19	19905656	19905656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaccaggtaaaggttttgCcacattcgtcacatttgtag	9	8	1	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:19905656C>T	ENST00000540806.2	-	4	1128	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.G347D|ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.G315D			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAGGTTTTGCCACATTCGTC	0.408																																						ENST00000443905.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						c.(1039-1041)gGc>gAc		zinc finger protein 506							89	93	92					19																	19905656		2163	4285	6448	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905656C>T	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"Zinc fingers, C2H2-type", "-"	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1040G>A	19.37:g.19905656C>T	ENSP00000440625:p.Gly347Asp					CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.G315D|ZNF506_ENST00000540806.2_Missense_Mutation_p.G347D|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA	p.G347D			Q5JVG8	ZN506_HUMAN			4	1187	-			347					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1040G>A	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	-	14.97	2.693034	0.48202	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.58358	0.34;0.34;0.34	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55337	0.1914	L	0.31420	0.93	0.40789	D	0.983245	D;D	0.89917	0.96;1.0	P;D	0.97110	0.865;1.0	T	0.55585	-0.8118	9	0.72032	D	0.01	.	7.4069	0.26995	0.0:1.0:0.0:0.0	.	347;315	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	D	347;347;315	ENSP00000393835:G347D;ENSP00000440625:G347D;ENSP00000408892:G315D	ENSP00000393835:G347D	G	-	2	0	ZNF506	19766656	0.983000	0.35010	0.040000	0.18447	0.033000	0.12548	0.999000	0.29757	0.430000	0.26230	0.430000	0.28490	GGC		0.408	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		4	71	0	0	0	0.009096	0	4	71					T	19905656	C	T	19905656	3	4	238	1	0	0	0	0	1	0	0	0	17949	739	26	2	298	2	ZNF506	19	19905656	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1632823	19905656	39223327	48	28307											
MLL4	9757	broad.mit.edu	37	chr19	36216441	36216441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggaggaggccgagcGgcccctgccccagcatcacg	14	17	1	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:36216441G>A	ENST00000222270.7	+	12	3704	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	KMT2B_ENST00000420124.1_Missense_Mutation_p.R1235Q|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1235					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGGCCGAGCGGCCCCTGCCC	0.597																																						ENST00000420124.1																			0											c.(3703-3705)cGg>cAg									154	168	163					19																	36216441		2084	4209	6293	SO:0001583	missense	0							g.chr19:36216441G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3704G>A	19.37:g.36216441G>A	ENSP00000222270:p.Arg1235Gln					WBP7_ENST00000222270.7_Missense_Mutation_p.R1235Q|KMT2B_ENST00000607650.1_RNA	p.R1235Q							12	3704	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3704G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289773	0.59976	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.89810	-2.57;-2.57	5.54	5.54	0.83059	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.40818	N	0.001008	D	0.85022	0.5602	M	0.71581	2.175	0.58432	D	0.999997	P	0.52577	0.954	B	0.33568	0.166	D	0.85951	0.1464	10	0.46703	T	0.11	.	12.3424	0.55101	0.0798:0.0:0.9202:0.0	.	1235	Q9UMN6	MLL4_HUMAN	Q	1235	ENSP00000222270:R1235Q;ENSP00000398837:R1235Q	ENSP00000222270:R1235Q	R	+	2	0	AD000671.1	40908281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.966000	0.63715	2.884000	0.98904	0.655000	0.94253	CGG		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		86	145	0	0	0	0.01441	0	86	145					A	36216441	G	A	36216441	3	1	238	1	0	0	0	0	1	0	0	0	9623	1116	39	1	3750	1	MLL4	19	36216441	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	16310785	36216441	22912542	49	28308											
ZNF567	163081	broad.mit.edu	37	chr19	37203719	37203719	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgtgatcctcaagtTggaacgaggagaagagccat	12	8	1	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:37203719T>G	ENST00000536254.2	+	5	395	c.173T>G	c.(172-174)tTg>tGg	p.L58W	ZNF567_ENST00000588311.1_Missense_Mutation_p.L27W|ZNF567_ENST00000585696.1_Missense_Mutation_p.L27W|ZNF567_ENST00000360729.4_Missense_Mutation_p.L27W|ZNF567_ENST00000392163.2_Missense_Mutation_p.L27W			Q8N184	ZN567_HUMAN	zinc finger protein 567	58	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(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)			ATCCTCAAGTTGGAACGAGGA	0.423																																						ENST00000585696.1																			0				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						c.(79-81)tTg>tGg		zinc finger protein 567							138	120	126					19																	37203719		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37203719T>G	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.173T>G	19.37:g.37203719T>G	ENSP00000441838:p.Leu58Trp					ZNF567_ENST00000536254.2_Missense_Mutation_p.L58W|ZNF567_ENST00000588311.1_Missense_Mutation_p.L27W|ZNF567_ENST00000392163.2_Missense_Mutation_p.L27W|ZNF567_ENST00000360729.4_Missense_Mutation_p.L27W	p.L27W			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		2	1310	+	Esophageal squamous(110;0.198)		58			KRAB.		B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.80T>G		.	.	.	.	.	.	.	.	.	.	T	17.26	3.344459	0.61073	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.01059	5.39;5.39;5.39	4.32	3.19	0.36642	Krueppel-associated box (3);	0.000000	0.33382	N	0.004961	T	0.07908	0.0198	M	0.93507	3.425	0.23926	N	0.996448	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.04115	-1.0976	10	0.66056	D	0.02	.	7.2281	0.26026	0.0:0.0:0.2273:0.7727	.	58;27	Q8N184;F8WEL6	ZN567_HUMAN;.	W	58;58;27;57;27	ENSP00000441838:L58W;ENSP00000353957:L27W;ENSP00000376003:L27W	ENSP00000353957:L27W	L	+	2	0	ZNF567	41895559	0.713000	0.27926	0.938000	0.37757	0.935000	0.57460	2.580000	0.46068	1.882000	0.54519	0.379000	0.24179	TTG		0.423	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		17	30	0	0	0	0.006122	0	17	30					G	37203719	T	G	37203719	3	3	238	1	0	0	0	0	1	0	0	0	17995	1821	63	5	86	5	ZNF567	19	37203719	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	987278	37203719	21925264	50	28309											
ZNF600	162966	broad.mit.edu	37	chr19	53269430	53269430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgcactcattacactTgtaaggtttctcaccactat	5	12	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:53269430T>C	ENST00000338230.3	-	3	1846	c.1579A>G	c.(1579-1581)Aag>Gag	p.K527E		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	527					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(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCATTACACTTGTAAGGTTTC	0.453																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1579-1581)Aag>Gag		zinc finger protein 600							211	189	197					19																	53269430		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269430T>C	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1579A>G	19.37:g.53269430T>C	ENSP00000344791:p.Lys527Glu						p.K527E	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1846	-			527					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1579A>G	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	6.745	0.506248	0.12883	.	.	ENSG00000189190	ENST00000338230	T	0.16196	2.36	1.51	0.43	0.16515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	L	0.50919	1.6	0.09310	N	1	P	0.52842	0.956	D	0.70016	0.967	T	0.24440	-1.0160	9	0.15066	T	0.55	.	5.6406	0.17562	0.0:0.1799:0.0:0.8201	.	527	Q6ZNG1	ZN600_HUMAN	E	527	ENSP00000344791:K527E	ENSP00000344791:K527E	K	-	1	0	ZNF600	57961242	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	-0.854000	0.04299	0.700000	0.31782	0.163000	0.16589	AAG		0.453	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		11	104	0	0	0	0.010729	0	11	104					C	53269430	T	C	53269430	3	2	238	1	0	0	0	0	1	0	0	0	18027	1821	63	3	593	3	ZNF600	19	53269430	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	16065711	53269430	5859553	51	28310											
MACROD2	140733	broad.mit.edu	37	chr20	15843442	15843442	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttgacttcaaaatctacaAaaagaaaatgaatgagtttt	6	4	2	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr20:15843442A>T	ENST00000310348.4	+	9	698	c.698A>T	c.(697-699)aAa>aTa	p.K233I	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.K233I|MACROD2_ENST00000378058.3_5'Flank			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	233	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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)				AAAATCTACAAAAAGAAAATG	0.348																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(697-699)aAa>aTa		MACRO domain containing 2							90	91	90					20																	15843442		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15843442A>T	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.698A>T	20.37:g.15843442A>T	ENSP00000309809:p.Lys233Ile					MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.K233I	p.K233I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			9	1093	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	233			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.698A>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703647	0.68501	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.23552	1.9;1.9	5.6	4.5	0.54988	Appr-1-p processing (1);	0.126981	0.36303	N	0.002672	T	0.42539	0.1207	L	0.53729	1.69	0.80722	D	1	D;P	0.89917	1.0;0.78	D;P	0.69307	0.963;0.626	T	0.25984	-1.0116	10	0.66056	D	0.02	-12.8521	10.2685	0.43468	0.925:0.0:0.075:0.0	.	233;233	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	I	233	ENSP00000217246:K233I;ENSP00000309809:K233I	ENSP00000217246:K233I	K	+	2	0	MACROD2	15791442	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.475000	0.60210	0.955000	0.37878	0.455000	0.32223	AAA		0.348	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		13	28	0	0	0	0.003163	0	13	28					T	15843442	A	T	15843442	3	4	238	1	0	0	0	0	1	0	0	0	9146	14	1	5	732	5	MACROD2	20	15843442	Missense_Mutation	SNP	A	TCGA-HT-7475-01A-11D-2024-08		15843442	47182078	52	28311											
TPTE	7179	broad.mit.edu	37	chr21	10970032	10970032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcgcaggtgcctcctcGgttgctcctttaaattcact	7	13	2	0	rs571891150		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr21:10970032G>A	ENST00000361285.4	-	6	425	c.96C>T	c.(94-96)acC>acT	p.T32T	TPTE_ENST00000298232.7_Silent_p.T32T|TPTE_ENST00000342420.5_Silent_p.T32T|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	32					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T32T(2)|p.E33fs*10(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCCTCCTCGGTTGCTCCTT	0.398													.|||	1	0.000199681	0.0	0.0	5008	,	,		36019	0.001		0.0	False		,,,				2504	0.0					ENST00000298232.7																			3	Substitution - coding silent(2)|Deletion - Frameshift(1)	p.T32T(2)|p.E33fs*10(1)	endometrium(2)|lung(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(94-96)acC>acT		transmembrane phosphatase with tensin homology							230	216	221					21																	10970032		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970032G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.96C>T	21.37:g.10970032G>A						TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.T32T|TPTE_ENST00000361285.4_Silent_p.T32T	p.T32T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	463	-			32					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.96C>T	CCDS13560.2																																																																																				0.398	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			28	108	0	0	0	0.007291	0	28	108					A	10970032	G	A	10970032	2	1	238	1	0	0	0	0	0	0	0	1	16427	1103	39	1		1	TPTE	21	10970032	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08		10970032	37159863	53	28312											
CECR1	51816	broad.mit.edu	37	chr22	17684592	17684592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagatggtttcaaatttcGaccagacaacattttggttt	8	6	1	3	rs369306297		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr22:17684592G>A	ENST00000399839.1	-	4	884	c.614C>T	c.(613-615)tCg>tTg	p.S205L	CECR1_ENST00000399837.2_Missense_Mutation_p.S205L|CECR1_ENST00000262607.3_Missense_Mutation_p.S205L|CECR1_ENST00000449907.2_Missense_Mutation_p.S163L	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	205	Substrate binding.				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)				TTCAAATTTCGACCAGACAAC	0.493																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(613-615)tCg>tTg		cat eye syndrome chromosome region, candidate 1		G	LEU/SER	0,4406		0,0,2203	174	142	153		614	2.5	0	22		153	2,8598	2.2+/-6.3	0,2,4298	no	missense	CECR1	NM_017424.2	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	205/512	17684592	2,13004	2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17684592G>A	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.614C>T	22.37:g.17684592G>A	ENSP00000382733:p.Ser205Leu					CECR1_ENST00000262607.3_Missense_Mutation_p.S205L|CECR1_ENST00000399837.2_Missense_Mutation_p.S205L|CECR1_ENST00000449907.2_Missense_Mutation_p.S163L	p.S205L			Q9NZK5	CECR1_HUMAN			4	884	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	205			Substrate binding.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.614C>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	9.342	1.063309	0.20067	0.0	2.33E-4	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.6	2.47	0.30058	Adenosine/AMP deaminase (1);	1.669590	0.03638	U	0.239050	T	0.72293	0.3442	L	0.39898	1.24	0.09310	N	1	P	0.48230	0.907	B	0.30782	0.12	T	0.64976	-0.6280	10	0.33141	T	0.24	.	8.0721	0.30695	0.0:0.0:0.5913:0.4087	.	205	Q9NZK5	CECR1_HUMAN	L	205;205;163;205	ENSP00000382733:S205L;ENSP00000262607:S205L;ENSP00000406443:S163L;ENSP00000382731:S205L	ENSP00000262607:S205L	S	-	2	0	CECR1	16064592	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	1.420000	0.34804	1.555000	0.49500	0.650000	0.86243	TCG		0.493	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			17	27	0	0	0	0.00499	0	17	27					A	17684592	G	A	17684592	3	1	238	1	0	0	0	0	1	0	0	0	3205	1059	37	1	983	1	CECR1	22	17684592	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		17684592	33619974	54	28313											
USP11	8237	broad.mit.edu	37	chrX	47092455	47092455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggcgatggcgacggtcGcagcaaatccagctgctgct	15	12	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:47092455G>A	ENST00000218348.3	+	1	142	c.142G>A	c.(142-144)Gca>Aca	p.A48T	USP11_ENST00000377107.2_Missense_Mutation_p.A5T	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	48					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						ggcgacggtcgcagcaaatcc	0.642																																						ENST00000377107.2																			0				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						c.(13-15)Gca>Aca		ubiquitin specific peptidase 11							15	14	14					X																	47092455		2197	4285	6482	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47092455G>A	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.142G>A	X.37:g.47092455G>A	ENSP00000218348:p.Ala48Thr					USP11_ENST00000218348.3_Missense_Mutation_p.A48T	p.A5T			P51784	UBP11_HUMAN			1	367	+			48					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.13G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038939	0.35989	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.24350	1.99;1.86	3.87	3.01	0.34805	.	0.766856	0.10805	N	0.632235	T	0.16727	0.0402	N	0.24115	0.695	0.25733	N	0.985247	B	0.15719	0.014	B	0.06405	0.002	T	0.18053	-1.0349	10	0.54805	T	0.06	-1.7214	6.3356	0.21294	0.1352:0.0:0.8648:0.0	.	48	P51784	UBP11_HUMAN	T	5;48	ENSP00000366311:A5T;ENSP00000218348:A48T	ENSP00000218348:A48T	A	+	1	0	USP11	46977399	0.334000	0.24739	0.893000	0.35052	0.172000	0.22775	0.934000	0.28910	0.992000	0.38840	0.513000	0.50165	GCA		0.642	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		5	2	0	0	0	0.000602	0	5	2					A	47092455	G	A	47092455	3	1	238	1	0	0	0	0	1	0	0	0	17039	1087	38	1	144	1	USP11	23	47092455	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		47092455	108178105	55	28314											
ATRX	546	broad.mit.edu	37	chrX	76813076	76813076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaagacagtgactgcTtagttacttgccgatcataa	8	9	1	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:76813076T>C	ENST00000373344.5	-	30	6759	c.6545A>G	c.(6544-6546)aAg>aGg	p.K2182R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K2144R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2182	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						CAGTGACTGCTTAGTTACTTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6544-6546)aAg>aGg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						142	128	133					X																	76813076		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813076T>C	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.6545A>G	X.37:g.76813076T>C	ENSP00000362441:p.Lys2182Arg					ATRX_ENST00000395603.3_Missense_Mutation_p.K2144R|ATRX_ENST00000480283.1_5'UTR	p.K2182R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6759	-			2182			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6545A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565418	0.65651	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94497	-3.44;-3.44	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.989	D	0.98794	1.0737	10	0.87932	D	0	-10.1302	14.7231	0.69323	0.0:0.0:0.0:1.0	.	2144;2182	P46100-4;P46100	.;ATRX_HUMAN	R	2182;2144	ENSP00000362441:K2182R;ENSP00000378967:K2144R	ENSP00000362441:K2182R	K	-	2	0	ATRX	76699732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	1.858000	0.53909	0.486000	0.48141	AAG		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		61	10	0	0	0	0.01441	0	61	10					C	76813076	T	C	76813076	3	2	238	1	0	0	0	0	1	0	0	0	1208	1609	56	3	957	3	ATRX	23	76813076	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	29720621	76813076	78457484	56	28315											
ITIH4	3700	broad.mit.edu	37	chr3	52848085	52848085	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacctcctggtaaaactGgcctgagatacaaagggtgg	13	9	0	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:52848085G>A	ENST00000266041.4	-	23	2725	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q861*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q847*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q882*|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	877					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTAAAACTGGCCTGAGATA	0.592																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2629-2631)Cag>Tag		inter-alpha-trypsin inhibitor heavy chain family, member 4							43	37	39					3																	52848085		2203	4300	6503	SO:0001587	stop_gained	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52848085G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2629C>T	3.37:g.52848085G>A	ENSP00000266041:p.Gln877*					ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q847*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q861*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q882*	p.Q877*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	23	2725	-			877					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Nonsense_Mutation	SNP	ENST00000266041.4	37	c.2629C>T	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.865011|6.865011	0.97897|0.97897	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	.|.	.|.	.|.	5.25|5.25	4.37|4.37	0.52481|0.52481	.|.	.|0.133550	.|0.35262	.|N	.|0.003330	T|.	0.65502|.	0.2697|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67393|.	-0.5682|.	4|.	.|0.87932	.|D	.|0	-19.7601|-19.7601	9.0709|9.0709	0.36491|0.36491	0.0961:0.0:0.9039:0.0|0.0961:0.0:0.9039:0.0	.|.	.|.	.|.	.|.	L|X	665|877;861;882;847;835	.|.	.|ENSP00000266041:Q877X	P|Q	-|-	2|1	0|0	ITIH4|ITIH4	52823125|52823125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	4.661000|4.661000	0.61518|0.61518	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.592	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		9	15	0	0	0	0.069234	0	9	15					A	52848085	G	A	52848085	4	1	239	1	0	0	0	0	0	1	0	0	7906	1357	47	2	171	2	ITIH4	3	52848085	Nonsense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		52848085	145174345	1	28316											
CCDC52	152185	broad.mit.edu	37	chr3	113172505	113172505	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctgctgcccatctccCagtactgggagctcttctga	9	15	4	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:113172505C>G	ENST00000295872.4	-	14	2209	c.1950G>C	c.(1948-1950)ctG>ctC	p.L650L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	650					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						GCCCATCTCCCAGTACTGGGA	0.453																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1948-1950)ctG>ctC		spindle and centriole associated protein 1							141	146	144					3																	113172505		2203	4300	6503	SO:0001819	synonymous_variant	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172505C>G	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.1950G>C	3.37:g.113172505C>G							p.L650L	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2209	-			650					D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	c.1950G>C	CCDS2973.1																																																																																				0.453	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		30	71	0	0	0	0.144211	0	30	71					G	113172505	C	G	113172505	2	3	239	1	0	0	0	0	0	0	0	1	2822	581	21	4		4	CCDC52	3	113172505	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08	60324420	113172505	84849925	2	28317											
KIAA1211	57482	broad.mit.edu	37	chr4	57193877	57193877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaggttttccaccccGgatgctgcccccgtgtcaac	9	16	1	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:57193877G>A	ENST00000504228.1	+	9	3714	c.3609G>A	c.(3607-3609)ccG>ccA	p.P1203P	KIAA1211_ENST00000264229.6_Silent_p.P1203P|KIAA1211_ENST00000541073.1_Silent_p.P1196P			Q6ZU35	K1211_HUMAN	KIAA1211	1203										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTTCCACCCCGGATGCTGCCC	0.507																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3607-3609)ccG>ccA		KIAA1211							109	113	112					4																	57193877		1837	4080	5917	SO:0001819	synonymous_variant	57482							g.chr4:57193877G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3609G>A	4.37:g.57193877G>A						KIAA1211_ENST00000264229.6_Silent_p.P1203P|KIAA1211_ENST00000541073.1_Silent_p.P1196P	p.P1203P			Q6ZU35	K1211_HUMAN			9	3714	+	Glioma(25;0.08)|all_neural(26;0.101)		1203					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.3609G>A	CCDS43230.1																																																																																				0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		53	110	0	0	0	0.139131	0	53	110					A	57193877	G	A	57193877	2	1	239	1	0	0	0	0	0	0	0	1	8215	1103	39	1		1	KIAA1211	4	57193877	Silent	SNP	G	TCGA-HT-7476-01A-11D-2024-08		57193877	133960399	3	28318											
TRPC3	7222	broad.mit.edu	37	chr4	122853715	122853715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgatgggggtgatgTccggcgagaagcgcgtgccg	19	9	0	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:122853715T>A	ENST00000379645.3	-	2	771	c.698A>T	c.(697-699)gAc>gTc	p.D233V	TRPC3_ENST00000264811.5_Missense_Mutation_p.D160V|TRPC3_ENST00000513531.1_Missense_Mutation_p.D160V	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	148					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGGTGATGTCCGGCGAGAA	0.617																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(478-480)gAc>gTc		transient receptor potential cation channel, subfamily C, member 3							78	74	75					4																	122853715		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122853715T>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.698A>T	4.37:g.122853715T>A	ENSP00000368966:p.Asp233Val					TRPC3_ENST00000513531.1_Missense_Mutation_p.D160V|TRPC3_ENST00000379645.3_Missense_Mutation_p.D233V	p.D160V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			1	897	-			148					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.479A>T	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668676	0.88348	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.79141	-1.01;-1.24;-1.07	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90164	0.6926	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92179	0.5750	10	0.87932	D	0	-2.0987	15.8894	0.79279	0.0:0.0:0.0:1.0	.	160;233	E9PCJ9;Q5G1L5	.;.	V	160;233;160	ENSP00000264811:D160V;ENSP00000368966:D233V;ENSP00000426899:D160V	ENSP00000264811:D160V	D	-	2	0	TRPC3	123073165	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.975000	0.88055	2.150000	0.67090	0.533000	0.62120	GAC		0.617	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		20	34	0	0	0	0.055883	0	20	34					A	122853715	T	A	122853715	3	1	239	1	0	0	0	0	1	0	0	0	16576	1667	58	5	2111	5	TRPC3	4	122853715	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	65659838	122853715	68300561	4	28319											
FAT4	79633	broad.mit.edu	37	chr4	126239920	126239920	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaccatcactgtattggAcactcaagacaacccacctg	6	13	2	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:126239920A>G	ENST00000394329.3	+	1	2367	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	785	Cadherin 7. {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						ACTGTATTGGACACTCAAGAC	0.448																																						ENST00000394329.3																			0				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						c.(2353-2355)gAc>gGc		FAT atypical cadherin 4							132	124	126					4																	126239920		1979	4165	6144	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239920A>G	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.2354A>G	4.37:g.126239920A>G	ENSP00000377862:p.Asp785Gly						p.D785G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2367	+			785			Cadherin 7.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2354A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867089	0.51588	.	.	ENSG00000196159	ENST00000394329	T	0.68765	-0.35	5.48	4.32	0.51571	Cadherin (3);Cadherin-like (1);	0.000000	0.35970	U	0.002863	D	0.84329	0.5448	M	0.93638	3.44	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.87215	0.2250	10	0.66056	D	0.02	.	10.7967	0.46464	0.9266:0.0:0.0734:0.0	.	785	Q6V0I7	FAT4_HUMAN	G	785	ENSP00000377862:D785G	ENSP00000377862:D785G	D	+	2	0	FAT4	126459370	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.349000	0.79376	2.081000	0.62600	0.533000	0.62120	GAC		0.448	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		14	100	0	0	0	0.105934	0	14	100					G	126239920	A	G	126239920	3	3	239	1	0	0	0	0	1	0	0	0	5692	275	10	3	2356	3	FAT4	4	126239920	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	3386205	126239920	64914356	5	28320											
AP3B1	8546	broad.mit.edu	37	chr5	77473214	77473214	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagaaattatgccagcttcaGattttggtgatatgtgccaa	9	6	1	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:77473214G>C	ENST00000255194.6	-	9	1164	c.989C>G	c.(988-990)tCt>tGt	p.S330C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S281C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	330					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)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCAGCTTCAGATTTTGGTGA	0.338									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(988-990)tCt>tGt		adaptor-related protein complex 3, beta 1 subunit							121	117	119					5																	77473214		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77473214G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.989C>G	5.37:g.77473214G>C	ENSP00000255194:p.Ser330Cys					AP3B1_ENST00000519295.1_Missense_Mutation_p.S281C	p.S330C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	9	1164	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	330					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.989C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762656	0.49574	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.14391	2.51;2.51	5.35	5.35	0.76521	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.105512	0.64402	D	0.000003	T	0.40719	0.1128	M	0.76938	2.355	0.39026	D	0.959846	D	0.76494	0.999	D	0.69142	0.962	T	0.40869	-0.9540	10	0.72032	D	0.01	-11.8965	19.0674	0.93117	0.0:0.0:1.0:0.0	.	330	O00203	AP3B1_HUMAN	C	330;281;330;234	ENSP00000255194:S330C;ENSP00000430597:S281C	ENSP00000255194:S330C	S	-	2	0	AP3B1	77508970	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	4.794000	0.62482	2.510000	0.84645	0.591000	0.81541	TCT		0.338	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			22	41	0	0	0	0.125774	0	22	41					C	77473214	G	C	77473214	3	2	239	1	0	0	0	0	1	0	0	0	744	942	33	4	2371	4	AP3B1	5	77473214	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		77473214	103442046	6	28321											
CDC40	51362	broad.mit.edu	37	chr6	110533393	110533393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacatacctcaggatgttgGtgttaatctacggtcaacta	8	9	4	0			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr6:110533393G>T	ENST00000368932.1	+	8	886	c.785G>T	c.(784-786)gGt>gTt	p.G262V	CDC40_ENST00000368930.1_Missense_Mutation_p.G262V|CDC40_ENST00000307731.1_Missense_Mutation_p.G262V			O60508	PRP17_HUMAN	cell division cycle 40	262					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)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAGGATGTTGGTGTTAATCTA	0.378																																						ENST00000368932.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(784-786)gGt>gTt		cell division cycle 40							167	154	158					6																	110533393		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110533393G>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.785G>T	6.37:g.110533393G>T	ENSP00000357928:p.Gly262Val					CDC40_ENST00000368933.1_Missense_Mutation_p.G262V|CDC40_ENST00000307731.1_Missense_Mutation_p.G262V|CDC40_ENST00000368930.1_Missense_Mutation_p.G262V	p.G262V			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	8	886	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	262					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.785G>T	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591014	0.86851	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.61980	0.2;0.06;0.06;0.2	5.84	5.84	0.93424	WD40 repeat-like-containing domain (1);	0.044753	0.85682	D	0.000000	T	0.71341	0.3328	M	0.84326	2.69	0.80722	D	1	P	0.42556	0.783	P	0.54629	0.757	T	0.74012	-0.3801	10	0.56958	D	0.05	-11.0778	13.3461	0.60573	0.0719:0.0:0.9281:0.0	.	262	O60508	PRP17_HUMAN	V	262	ENSP00000357928:G262V;ENSP00000357929:G262V;ENSP00000357926:G262V;ENSP00000304370:G262V	ENSP00000304370:G262V	G	+	2	0	CDC40	110640086	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.690000	0.84178	2.758000	0.94735	0.591000	0.81541	GGT		0.378	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		4	74	1	0	0.00116845	0.021553	0.00192929	4	74					T	110533393	G	T	110533393	3	4	239	1	0	0	0	0	1	0	0	0	3070	1261	44	4	811	4	CDC40	6	110533393	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		110533393	60581674	7	28322											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggttggtgggacttactCgggccagattgtcctctggg	17	8	1	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:95657551C>T	ENST00000324972.6	+	11	1278	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1084-1086)tCg>tTg		dynein, cytoplasmic 1, intermediate chain 1							218	189	199					7																	95657551		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95657551C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1085C>T	7.37:g.95657551C>T	ENSP00000320130:p.Ser362Leu					DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L	p.S362L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		11	1278	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		362					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1085C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632398	0.96682	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.04	5.04	0.67666	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	0.66458	0.2791	M	0.92459	3.31	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	0.81914	0.989;0.995;0.995;0.989;0.989	T	0.75187	-0.3406	10	0.87932	D	0	-17.0481	18.9501	0.92638	0.0:1.0:0.0:0.0	.	345;342;345;362;325	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	345;362;325;342;325;345	ENSP00000392337:S345L;ENSP00000320130:S362L;ENSP00000438377:S325L;ENSP00000398118:S342L;ENSP00000352348:S325L;ENSP00000412444:S345L	ENSP00000320130:S362L	S	+	2	0	DYNC1I1	95495487	1.000000	0.71417	0.744000	0.31058	0.998000	0.95712	7.651000	0.83577	2.788000	0.95919	0.585000	0.79938	TCG		0.532	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		47	89	0	0	0	0.139131	0	47	89					T	95657551	C	T	95657551	3	4	239	1	0	0	0	0	1	0	0	0	4842	893	31	1	1123	1	DYNC1I1	7	95657551	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		95657551	63481112	8	28323											
SPAM1	6677	broad.mit.edu	37	chr7	123594310	123594310	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggattgttacaaccatcactAtaagaaacccggttacaatg	7	9	1	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:123594310A>T	ENST00000439500.1	+	4	1299	c.686A>T	c.(685-687)tAt>tTt	p.Y229F	SPAM1_ENST00000223028.7_Missense_Mutation_p.Y229F|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y229F|SPAM1_ENST00000340011.5_Missense_Mutation_p.Y229F|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y229F	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	229					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.Y229C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACCATCACTATAAGAAACCC	0.388																																						ENST00000340011.5																			2	Substitution - Missense(2)	p.Y229C(2)	lung(2)	breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(685-687)tAt>tTt		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						87	90	89					7																	123594310		2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594310A>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.686A>T	7.37:g.123594310A>T	ENSP00000402123:p.Tyr229Phe					SPAM1_ENST00000223028.7_Missense_Mutation_p.Y229F|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y229F|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y229F|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y229F	p.Y229F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1043	+			229					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.686A>T	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.462786	0.43736	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	6.17	-4.3	0.03710	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.523945	0.22752	N	0.056076	T	0.09291	0.0229	N	0.17379	0.485	0.09310	N	1	B;B	0.24618	0.023;0.107	B;B	0.27262	0.078;0.078	T	0.31503	-0.9941	9	.	.	.	-15.6284	7.8426	0.29408	0.3188:0.2007:0.0:0.4806	.	229;229	Q8TC30;P38567	.;HYALP_HUMAN	F	229	ENSP00000386028:Y229F;ENSP00000417934:Y229F;ENSP00000345849:Y229F;ENSP00000402123:Y229F;ENSP00000223028:Y229F	.	Y	+	2	0	SPAM1	123381546	0.245000	0.23899	0.000000	0.03702	0.147000	0.21601	0.811000	0.27198	-0.512000	0.06505	0.533000	0.62120	TAT		0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			36	72	0	0	0	0.059317	0	36	72					T	123594310	A	T	123594310	3	4	239	1	0	0	0	0	1	0	0	0	14986	449	16	5	688	5	SPAM1	7	123594310	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	27936759	123594310	35544353	9	28324											
GDAP1	54332	broad.mit.edu	37	chr8	75274211	75274211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaacagaaacgacttAaagtaagccaatcagctgtc	7	9	1	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr8:75274211A>G	ENST00000220822.7	+	4	657	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	GDAP1_ENST00000434412.2_Missense_Mutation_p.K125E|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	193	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAACGACTTAAAGTAAGCCA	0.358																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(577-579)Aaa>Gaa		ganglioside induced differentiation associated protein 1							102	92	95					8																	75274211		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75274211A>G		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"Charcot-Marie-Tooth neuropathy 4A"	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.577A>G	8.37:g.75274211A>G	ENSP00000220822:p.Lys193Glu					GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.K125E	p.K193E	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		4	657	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	193			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.577A>G	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966919	0.53507	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.99005	-5.28;-5.32	5.27	4.11	0.48088	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	N	0.11560	0.145	0.43230	D	0.995122	P	0.38788	0.647	P	0.48873	0.593	D	0.94736	0.7914	10	0.13470	T	0.59	-19.4931	12.5702	0.56332	0.8612:0.1388:0.0:0.0	.	193	Q8TB36	GDAP1_HUMAN	E	193;125	ENSP00000220822:K193E;ENSP00000417006:K125E	ENSP00000220822:K193E	K	+	1	0	GDAP1	75436766	1.000000	0.71417	0.953000	0.39169	0.781000	0.44180	6.538000	0.73852	1.022000	0.39626	0.459000	0.35465	AAA		0.358	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		10	44	0	0	0	0.058154	0	10	44					G	75274211	A	G	75274211	3	3	239	1	0	0	0	0	1	0	0	0	6307	363	13	3	591	3	GDAP1	8	75274211	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		75274211	71089811	10	28325											
MUSK	4593	broad.mit.edu	37	chr9	113457754	113457754	+	Frame_Shift_Del	DEL	A	A	-													aagcagtcctaccatgtactAcaatgggtaatcccaaacca							TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113457754delA	ENST00000374448.4	+	4	564	c.430delA	c.(430-432)acafs	p.T144fs	MUSK_ENST00000374439.1_Frame_Shift_Del_p.T26fs|MUSK_ENST00000416899.2_Frame_Shift_Del_p.T144fs|MUSK_ENST00000189978.5_Frame_Shift_Del_p.T144fs|MUSK_ENST00000374440.3_Frame_Shift_Del_p.T26fs	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	144	Ig-like 2.				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						ACCATGTACTACAATGGGTAA	0.328																																						ENST00000416899.2																			0				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						c.(430-432)cafs		muscle, skeletal, receptor tyrosine kinase							46	45	45					9																	113457754		1823	4064	5887	SO:0001589	frameshift_variant	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113457754delA	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.430delA	9.37:g.113457754delA	ENSP00000363571:p.Thr144fs					MUSK_ENST00000189978.5_Frame_Shift_Del_p.T144fs|MUSK_ENST00000374439.1_Frame_Shift_Del_p.T26fs|MUSK_ENST00000374440.3_Frame_Shift_Del_p.T26fs|MUSK_ENST00000374448.4_Frame_Shift_Del_p.T144fs	p.T144fs			O15146	MUSK_HUMAN			4	556	+			144			Ig-like 2.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Frame_Shift_Del	DEL	ENST00000374448.4	37	c.430delA	CCDS48005.1																																																																																				0.328	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	113457754	A	-	113457754	7	5	239	1	0	1	0	1	0	0	0	0	9989	391	14	0	444	0	MUSK	9	113457754	Frame_Shift_Del	DEL	A	TCGA-HT-7476-01A-11D-2024-08		113457754	27755677	11	28326											
MUSK	4593	broad.mit.edu	37	chr9	113547910	113547910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctccttctgaaccccAaattgctcagcctggagtat	8	14	2	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113547910A>G	ENST00000374448.4	+	13	1824	c.1690A>G	c.(1690-1692)Aaa>Gaa	p.K564E	MUSK_ENST00000416899.2_Missense_Mutation_p.K556E|MUSK_ENST00000374438.1_Missense_Mutation_p.K80E|MUSK_ENST00000189978.5_Missense_Mutation_p.K564E	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	564					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)	p.K564*(1)		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						TCTGAACCCCAAATTGCTCAG	0.483																																						ENST00000416899.2																			1	Substitution - Nonsense(1)	p.K564*(1)	lung(1)	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						c.(1666-1668)Aaa>Gaa		muscle, skeletal, receptor tyrosine kinase							175	167	170					9																	113547910		1927	4144	6071	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547910A>G	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.1690A>G	9.37:g.113547910A>G	ENSP00000363571:p.Lys564Glu					MUSK_ENST00000374448.4_Missense_Mutation_p.K564E|MUSK_ENST00000189978.5_Missense_Mutation_p.K564E|MUSK_ENST00000374438.1_Missense_Mutation_p.K80E	p.K556E			O15146	MUSK_HUMAN			11	1792	+			564					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1666A>G	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.368951	0.82463	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88975	-0.81;-2.45	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93795	0.8016	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94358	0.7585	10	0.87932	D	0	.	15.429	0.75077	1.0:0.0:0.0:0.0	.	564	O15146	MUSK_HUMAN	E	570;564;564;478;478;80;562;80	ENSP00000363571:K564E;ENSP00000363561:K80E	ENSP00000189978:K570E	K	+	1	0	MUSK	112587731	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.962000	0.93254	2.241000	0.73720	0.533000	0.62120	AAA		0.483	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				65	112	0	0	0	0.139131	0	65	112					G	113547910	A	G	113547910	3	3	239	1	0	0	0	0	1	0	0	0	9989	131	5	3	1772	3	MUSK	9	113547910	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	90156	113547910	27665521	12	28327											
KIAA1377	57562	broad.mit.edu	37	chr11	101857730	101857730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcagctgaagaacagAagatcctagagtcccttaat	8	10	1	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr11:101857730A>G	ENST00000263468.8	+	9	3472	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K869E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1068										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGAACAGAAGATCCTAGA	0.328																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(3202-3204)Aag>Gag		KIAA1377							85	84	84					11																	101857730		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101857730A>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3202A>G	11.37:g.101857730A>G	ENSP00000263468:p.Lys1068Glu					KIAA1377_ENST00000537689.1_Missense_Mutation_p.K869E	p.K1068E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	9	3472	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	1068					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.3202A>G	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825733	0.71143	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.13657	2.57;2.57	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000009	T	0.28797	0.0714	M	0.72894	2.215	0.27689	N	0.946165	D	0.55385	0.971	P	0.55749	0.783	T	0.15407	-1.0438	10	0.72032	D	0.01	-11.5096	11.203	0.48751	0.8465:0.1534:0.0:0.0	.	1068	Q9P2H0	K1377_HUMAN	E	1068;869	ENSP00000263468:K1068E;ENSP00000443184:K869E	ENSP00000263468:K1068E	K	+	1	0	KIAA1377	101362940	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.961000	0.49168	2.165000	0.68154	0.533000	0.62120	AAG		0.328	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		22	39	0	0	0	0.083992	0	22	39					G	101857730	A	G	101857730	3	3	239	1	0	0	0	0	1	0	0	0	8227	247	9	3	3236	3	KIAA1377	11	101857730	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		101857730	33148786	13	28328											
LRFN5	145581	broad.mit.edu	37	chr14	42356999	42356999	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaaccatatccatgagcctGatcctggttcttcagatatc	6	12	2	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:42356999G>C	ENST00000298119.4	+	3	2360	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	LRFN5_ENST00000554120.1_Missense_Mutation_p.D391H|LRFN5_ENST00000554171.1_Missense_Mutation_p.D391H	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	391						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATGAGCCTGATCCTGGTTC	0.388										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1171-1173)Gat>Cat		leucine rich repeat and fibronectin type III domain containing 5							83	85	84					14																	42356999		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356999G>C	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1171G>C	14.37:g.42356999G>C	ENSP00000298119:p.Asp391His	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.D391H|LRFN5_ENST00000554120.1_Missense_Mutation_p.D391H	p.D391H			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3603	+			391					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1171G>C	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238882	0.58995	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53857	0.7;0.6;0.6	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000018	T	0.69788	0.3150	M	0.64404	1.975	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.70016	0.967;0.94	T	0.70568	-0.4836	10	0.56958	D	0.05	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	391;391	G3V364;Q96NI6	.;LRFN5_HUMAN	H	391	ENSP00000298119:D391H;ENSP00000451897:D391H;ENSP00000451067:D391H	ENSP00000298119:D391H	D	+	1	0	LRFN5	41426749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.974000	0.88039	2.680000	0.91292	0.563000	0.77884	GAT		0.388	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	56	0	0	0	0.080935	0	12	56					C	42356999	G	C	42356999	3	2	239	1	0	0	0	0	1	0	0	0	8941	1290	45	4	1173	4	LRFN5	14	42356999	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		42356999	64992541	14	28329											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			27	40	0	0	0	0.108266	0	27	40					T	90631838	C	T	90631838	3	4	239	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		90631838	11899554	15	28330											
UNC45A	55898	broad.mit.edu	37	chr15	91491977	91491977	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agcccgaccccaagatggtgGagctggccaagtatgccaag	13	12	0	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:91491977G>C	ENST00000418476.2	+	13	1871	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	UNC45A_ENST00000394275.2_Missense_Mutation_p.E596Q	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	611					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)			CAAGATGGTGGAGCTGGCCAA	0.627																																						ENST00000394275.2																			0				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						c.(1786-1788)Gag>Cag		unc-45 homolog A (C. elegans)							52	44	46					15																	91491977		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91491977G>C		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.1831G>C	15.37:g.91491977G>C	ENSP00000407487:p.Glu611Gln					UNC45A_ENST00000418476.2_Missense_Mutation_p.E611Q	p.E596Q	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		16	2621	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		611					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.1786G>C	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717199	0.68844	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.05382	3.45;3.45	5.81	5.81	0.92471	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04543	0.0124	N	0.11341	0.13	0.80722	D	1	P;P	0.48503	0.911;0.911	B;B	0.39840	0.311;0.311	T	0.56444	-0.7978	10	0.11794	T	0.64	-38.5059	20.138	0.98040	0.0:0.0:1.0:0.0	.	611;596	Q9H3U1;A8K6F7	UN45A_HUMAN;.	Q	596;611	ENSP00000377816:E596Q;ENSP00000407487:E611Q	ENSP00000377816:E596Q	E	+	1	0	UNC45A	89292981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.741000	0.62095	2.763000	0.94921	0.650000	0.86243	GAG		0.627	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		3	11	0	0	0	0.009096	0	3	11					C	91491977	G	C	91491977	3	2	239	1	0	0	0	0	1	0	0	0	16985	1175	41	4	1881	4	UNC45A	15	91491977	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08	860139	91491977	11039415	16	28331											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	10	0	0	0	0.146539	0	16	10					A	7577121	G	A	7577121	3	1	239	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		7577121	73618089	17	28332											
MYH2	4620	broad.mit.edu	37	chr17	10440777	10440777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacttgcccaggtgctggTcatacagcttgttcttgaag	11	10	2	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:10440777T>C	ENST00000245503.5	-	16	2054	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	MYH2_ENST00000532183.2_Missense_Mutation_p.D557G|MYH2_ENST00000397183.2_Missense_Mutation_p.D557G|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	557	Myosin motor.				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						CAGGTGCTGGTCATACAGCTT	0.527																																						ENST00000245503.5																			0				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						c.(1669-1671)gAc>gGc		myosin, heavy chain 2, skeletal muscle, adult							118	117	117					17																	10440777		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440777T>C		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.1670A>G	17.37:g.10440777T>C	ENSP00000245503:p.Asp557Gly					MYH2_ENST00000397183.2_Missense_Mutation_p.D557G|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.D557G|CTC-297N7.7_ENST00000399342.2_RNA	p.D557G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			16	2054	-			557			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1670A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930034	0.73327	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.72051	-0.62;-0.62;-0.62	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.579717	0.13965	U	0.350545	D	0.82365	0.5021	M	0.79475	2.455	0.58432	D	0.999991	B;B	0.27498	0.18;0.024	P;P	0.46479	0.471;0.518	T	0.81104	-0.1084	10	0.87932	D	0	.	15.1769	0.72920	0.0:0.0:0.0:1.0	.	557;557	Q567P6;Q9UKX2	.;MYH2_HUMAN	G	557	ENSP00000433944:D557G;ENSP00000245503:D557G;ENSP00000380367:D557G	ENSP00000245503:D557G	D	-	2	0	MYH2	10381502	1.000000	0.71417	0.924000	0.36721	0.848000	0.48234	7.994000	0.88315	2.188000	0.69820	0.533000	0.62120	GAC		0.527	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		11	116	0	0	0	0.080935	0	11	116					C	10440777	T	C	10440777	3	2	239	1	0	0	0	0	1	0	0	0	10035	1667	58	3	4255	3	MYH2	17	10440777	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	2863656	10440777	70754433	18	28333											
ELP2	55250	broad.mit.edu	37	chr18	33739707	33739707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaactaggagatatagCttctcagccttctgatgaag	8	9	3	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr18:33739707C>T	ENST00000358232.6	+	15	1607	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.A510V|ELP2_ENST00000542824.1_Missense_Mutation_p.A445V|ELP2_ENST00000442325.2_Missense_Mutation_p.A580V|ELP2_ENST00000423854.2_Missense_Mutation_p.A445V|ELP2_ENST00000351393.6_Missense_Mutation_p.A489V	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	515					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGAGATATAGCTTCTCAGCCT	0.398																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(1543-1545)gCt>gTt		elongator acetyltransferase complex subunit 2							128	126	127					18																	33739707		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33739707C>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1544C>T	18.37:g.33739707C>T	ENSP00000350967:p.Ala515Val					ELP2_ENST00000542824.1_Missense_Mutation_p.A445V|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.A489V|ELP2_ENST00000423854.2_Missense_Mutation_p.A445V|ELP2_ENST00000350494.6_Missense_Mutation_p.A510V|ELP2_ENST00000442325.2_Missense_Mutation_p.A580V	p.A515V	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			15	1607	+			515					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.1544C>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151920	0.38021	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.60171	0.21;0.34;0.66;0.89;0.43;0.37	5.15	1.25	0.21368	WD40 repeat-like-containing domain (1);	1.110310	0.06529	N	0.741175	T	0.28665	0.0710	N	0.01789	-0.72	0.24104	N	0.995862	B;B;B;B;B;B	0.21606	0.003;0.005;0.058;0.004;0.004;0.002	B;B;B;B;B;B	0.19946	0.027;0.021;0.021;0.016;0.016;0.007	T	0.18304	-1.0341	10	0.30854	T	0.27	-0.196	4.7851	0.13222	0.0:0.5155:0.1481:0.3363	.	510;580;445;445;489;515	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	V	515;489;580;445;510;445	ENSP00000350967:A515V;ENSP00000257191:A489V;ENSP00000414851:A580V;ENSP00000391202:A445V;ENSP00000316051:A510V;ENSP00000443800:A445V	ENSP00000316051:A510V	A	+	2	0	ELP2	31993705	0.000000	0.05858	0.221000	0.23827	0.987000	0.75469	0.352000	0.20113	0.015000	0.14971	0.484000	0.47621	GCT		0.398	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		6	72	0	0	0	0.02938	0	6	72					T	33739707	C	T	33739707	3	4	239	1	0	0	0	0	1	0	0	0	5080	797	28	2	1602	2	ELP2	18	33739707	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		33739707	44337541	19	28334											
FLRT3	23767	broad.mit.edu	37	chr20	14307457	14307457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcagggaattccgcacCagggacagctctgtcaaatt	11	11	3	0			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr20:14307457C>T	ENST00000378053.3	-	2	952	c.696G>A	c.(694-696)ctG>ctA	p.L232L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.L232L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	232					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCCGCACCAGGGACAGCT	0.453																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(694-696)ctG>ctA		fibronectin leucine rich transmembrane protein 3							49	49	49					20																	14307457		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307457C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.696G>A	20.37:g.14307457C>T						FLRT3_ENST00000341420.4_Silent_p.L232L|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	p.L232L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	952	-		Colorectal(1;0.0464)	232					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.696G>A	CCDS13121.1																																																																																				0.453	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		18	46	0	0	0	0.0333	0	18	46					T	14307457	C	T	14307457	2	4	239	1	0	0	0	0	0	0	0	1	5940	581	21	2		2	FLRT3	20	14307457	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		14307457	48718063	20	28335											
TPTE	7179	broad.mit.edu	37	chr21	10973723	10973723	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtacgcataactcacCtttcattcatacgtgcctct	4	15	4	0			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:10973723C>G	ENST00000361285.4	-	4	340	c.11G>C	c.(10-12)aGt>aCt	p.S4T	TPTE_ENST00000342420.5_Splice_Site_p.S4T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.S4T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	4					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATAACTCACCTTTCATTCAT	0.383																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e4+1		transmembrane phosphatase with tensin homology							267	229	242					21																	10973723		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10973723C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.11+1G>C	21.37:g.10973723C>G						TPTE_ENST00000361285.4_Splice_Site_p.S4_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S4_splice	p.S4_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	378	-			4					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.11_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	7.279	0.608774	0.14066	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.95377	-3.69;-3.54;-3.54	1.57	-3.12	0.05282	.	.	.	.	.	D	0.93406	0.7897	N	0.22421	0.69	0.09310	N	1	P;P;B	0.52577	0.505;0.954;0.371	B;D;B	0.66351	0.039;0.943;0.018	D	0.86292	0.1674	8	.	.	.	.	6.6265	0.22833	0.5877:0.4123:0.0:0.0	.	4;4;4	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	4	ENSP00000298232:S4T;ENSP00000355208:S4T;ENSP00000344441:S4T	.	S	-	2	0	TPTE	9995594	0.000000	0.05858	0.017000	0.16124	0.008000	0.06430	-6.705000	0.00056	-0.652000	0.05408	0.400000	0.26472	AGT		0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	12	84	0	0	0	0.0333	0	12	84					G	10973723	C	G	10973723	5	3	239	1	0	0	0	0	0	0	1	0	16427	695	24	4	1728	4	TPTE	21	10973723	Splice_Site	SNP	C	TCGA-HT-7476-01A-11D-2024-08		10973723	37156172	21	28336											
SSX1	6756	broad.mit.edu	37	chrX	48125816	48125816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaccctgaggaagatgaCgagtaactccgtaagtgaac	12	8	0	5	rs199717766		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:48125816C>T	ENST00000376919.3	+	7	697	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	187					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						AGGAAGATGACGAGTAACTCC	0.488			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"synovial sarcoma, X breakpoint 1"			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(559-561)gaC>gaT		synovial sarcoma, X breakpoint 1							309	282	292					X																	48125816		1511	2708	4219	SO:0001819	synonymous_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125816C>T	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.561C>T	X.37:g.48125816C>T							p.D187D	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			7	697	+			187					A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	ENST00000376919.3	37	c.561C>T	CCDS14290.1																																																																																				0.488	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		7	97	0	0	0	0.02938	0	7	97					T	48125816	C	T	48125816	2	4	239	1	0	0	0	0	0	0	0	1	15202	535	19	1		1	SSX1	23	48125816	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		48125816	107144744	22	28337											
ATRX	546	broad.mit.edu	37	chrX	76939347	76939348	+	Frame_Shift_Del	DEL	TT	TT	-													atgtgctcactatctacctgTtttcttgaaagtttagcttc							TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:76939347_76939348delTT	ENST00000373344.5	-	9	1614_1615	c.1400_1401delAA	c.(1399-1401)aaafs	p.K467fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K429fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	467					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						TATCTACCTGTTTTCTTGAAAG	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1399-1401)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939347_76939348delTT	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.1400_1401delAA	X.37:g.76939349_76939350delTT	ENSP00000362441:p.Lys467fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K429fs|ATRX_ENST00000480283.1_5'UTR	p.K467fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1614_1615	-			467					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1400_1401delAA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		103	67						103	67	---	---	---	---	-	76939348	TT	-	76939347	7	5	239	1	0	1	0	1	0	0	0	0	1208	1722	60	0	6185	0	ATRX	23	76939347	Frame_Shift_Del	DEL	TT	TCGA-HT-7476-01A-11D-2024-08	28813531	76939347	78331213	23	28338											
PCDH19	57526	broad.mit.edu	37	chrX	99662028	99662028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaacgccttggtctgctcgTggttaaaggatcgcagcgcg	14	11	1	0			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:99662028T>C	ENST00000373034.4	-	1	3243	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	PCDH19_ENST00000255531.7_Missense_Mutation_p.H523R|PCDH19_ENST00000420881.2_Missense_Mutation_p.H523R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	523	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						GGTCTGCTCGTGGTTAAAGGA	0.582																																						ENST00000373034.4																			0				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						c.(1567-1569)cAc>cGc		protocadherin 19							109	110	110					X																	99662028		2173	4255	6428	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662028T>C	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.1568A>G	X.37:g.99662028T>C	ENSP00000362125:p.His523Arg					PCDH19_ENST00000420881.2_Missense_Mutation_p.H523R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H523R	p.H523R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3243	-			523			Cadherin 5.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1568A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273358	0.59649	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.37235	1.21;1.21;1.21	5.81	5.81	0.92471	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	N	0.05487	-0.04	0.80722	D	1	D;D;D	0.71674	0.998;0.988;0.99	D;D;D	0.85130	0.997;0.915;0.949	T	0.52034	-0.8629	10	0.54805	T	0.06	.	15.0829	0.72127	0.0:0.0:0.0:1.0	.	523;523;523	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	R	523	ENSP00000400327:H523R;ENSP00000362125:H523R;ENSP00000255531:H523R	ENSP00000255531:H523R	H	-	2	0	PCDH19	99548684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	1.944000	0.56390	0.417000	0.27973	CAC		0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		42	26	0	0	0	0.117977	0	42	26					C	99662028	T	C	99662028	3	2	239	1	0	0	0	0	1	0	0	0	11514	1696	59	3	1902	3	PCDH19	23	99662028	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	22722681	99662028	55608532	24	28339											
CROCC	9696	broad.mit.edu	37	chr1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcctggcagtgaagcgtcttGagaagcagaatctggagaag	15	7	2	4	rs141704732	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		28638	0.0		0.0	False		,,,				2504	0.0					ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1228-1230)Gag>Cag		ciliary rootlet coiled-coil, rootletin							50	39	43					1																	17264170		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17264170G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1228G>C	1.37:g.17264170G>C	ENSP00000364691:p.Glu410Gln					CROCC_ENST00000467938.1_3'UTR	p.E410Q	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	10	1297	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	410						Missense_Mutation	SNP	ENST00000375541.5	37	c.1228G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	6.035	0.374806	0.11409	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.07800	3.16	4.11	4.11	0.48088	.	.	.	.	.	T	0.01835	0.0058	N	0.00186	-1.895	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	0.34950	-0.9808	9	0.02654	T	1	.	11.4042	0.49887	0.0:0.8165:0.1835:0.0	.	273;273;410	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	Q	410;291	ENSP00000364691:E410Q	ENSP00000364691:E410Q	E	+	1	0	CROCC	17136757	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.288000	0.33296	1.097000	0.41459	-0.216000	0.12614	GAG		0.572	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	30	0	0	0	1	0	5	30					C	17264170	G	C	17264170	3	2	240	1	0	0	0	0	1	0	0	0	3893	1291	45	4	1266	4	CROCC	1	17264170	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		17264170	231986451	1	28340											
FCRL5	83416	broad.mit.edu	37	chr1	157514077	157514077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtatccaggatctcggGctgtcagatatgacgctgta	11	10	2	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:157514077G>T	ENST00000361835.3	-	5	976	c.819C>A	c.(817-819)agC>agA	p.S273R	FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R|FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	273					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)				AGGATCTCGGGCTGTCAGATA	0.512																																						ENST00000361835.3																			0				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						c.(817-819)agC>agA		Fc receptor-like 5							147	144	145					1																	157514077		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514077G>T	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.819C>A	1.37:g.157514077G>T	ENSP00000354691:p.Ser273Arg					FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R	p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			5	976	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	273					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.819C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353999	0.41700	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	3.89	-0.262	0.12958	.	.	.	.	.	T	0.26955	0.0660	M	0.90425	3.115	0.19775	N	0.999956	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.644	D;D;D;D;D;P	0.97110	0.999;0.999;1.0;1.0;0.998;0.571	T	0.03202	-1.1061	9	0.41790	T	0.15	.	6.2299	0.20728	0.4841:0.0:0.5159:0.0	.	304;188;273;273;273;273	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	R	273;273;273;188;273	ENSP00000354691:S273R;ENSP00000349434:S273R;ENSP00000357173:S273R;ENSP00000357174:S188R;ENSP00000357172:S273R	ENSP00000349434:S273R	S	-	3	2	FCRL5	155780701	0.331000	0.24713	0.007000	0.13788	0.002000	0.02628	0.403000	0.20982	0.071000	0.16664	0.563000	0.77884	AGC		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		126	145	1	0	1.13993e-56	1	1.23492e-56	126	145					T	157514077	G	T	157514077	3	4	240	1	0	0	0	0	1	0	0	0	5798	1194	42	4	2166	4	FCRL5	1	157514077	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	140249907	157514077	91736544	2	28341											
PTGS2	5743	broad.mit.edu	37	chr1	186643728	186643728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggcaggagaacatatAacattacccataagtccttt	7	9	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:186643728A>G	ENST00000367468.5	-	10	1708	c.1572T>C	c.(1570-1572)gtT>gtC	p.V524V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	524					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAGAACATATAACATTACCCA	0.458																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1570-1572)gtT>gtC		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						151	140	143					1																	186643728		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186643728A>G	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1572T>C	1.37:g.186643728A>G						PTGS2_ENST00000490885.2_5'UTR	p.V524V	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			10	1708	-			524					A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.1572T>C	CCDS1371.1																																																																																				0.458	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		21	105	0	0	0	1	0	21	105					G	186643728	A	G	186643728	2	3	240	1	0	0	0	0	0	0	0	1	12756	349	13	3		3	PTGS2	1	186643728	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	29129651	186643728	62606893	3	28342											
LAD1	3898	broad.mit.edu	37	chr1	201352455	201352455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacccacccgtatggccGtgtggtatctctccagcttc	8	18	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:201352455G>A	ENST00000391967.2	-	6	1539	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	413						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCGTATGGCCGTGTGGTATCT	0.597																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(1237-1239)aCg>aTg		ladinin 1							168	150	156					1																	201352455		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201352455G>A	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1238C>T	1.37:g.201352455G>A	ENSP00000375829:p.Thr413Met					LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	p.T413M	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			6	1539	-			413					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.1238C>T	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428663	0.43122	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	T;T;T	0.51817	0.69;2.45;2.41	4.79	-1.96	0.07525	.	1.104190	0.06828	N	0.793372	T	0.56949	0.2020	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.69824	0.966	T	0.48937	-0.8990	10	0.72032	D	0.01	-3.7262	1.0609	0.01600	0.3482:0.1478:0.3529:0.1511	.	413	O00515	LAD1_HUMAN	M	64;413;427	ENSP00000422687:T64M;ENSP00000375829:T413M;ENSP00000356282:T427M	ENSP00000356282:T427M	T	-	2	0	LAD1	199619078	0.904000	0.30761	0.003000	0.11579	0.061000	0.15899	1.728000	0.38105	-0.322000	0.08615	-0.305000	0.09177	ACG		0.597	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		64	181	0	0	0	1	0	64	181					A	201352455	G	A	201352455	3	1	240	1	0	0	0	0	1	0	0	0	8599	1145	40	1	335	1	LAD1	1	201352455	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	14708727	201352455	47898166	4	28343											
RYR2	6262	broad.mit.edu	37	chr1	237804274	237804274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattcagctttgattgaccTcttgggacgctgtgctcctg	10	11	2	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:237804274T>C	ENST00000366574.2	+	47	7510	c.7193T>C	c.(7192-7194)cTc>cCc	p.L2398P	RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P|RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2398	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)			TTGATTGACCTCTTGGGACGC	0.453																																						ENST00000366574.2																			0				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						c.(7192-7194)cTc>cCc		ryanodine receptor 2 (cardiac)							162	159	160					1																	237804274		2084	4239	6323	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237804274T>C	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.7193T>C	1.37:g.237804274T>C	ENSP00000355533:p.Leu2398Pro					RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P|RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P	p.L2398P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		47	7510	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2398			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7193T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657820	0.88154	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99353	-5.77;-5.77;-5.77	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000036	D	0.99456	0.9807	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98600	1.0658	10	0.87932	D	0	-13.7329	16.0773	0.80976	0.0:0.0:0.0:1.0	.	2398	Q92736	RYR2_HUMAN	P	2398;2396;2382	ENSP00000355533:L2398P;ENSP00000353174:L2396P;ENSP00000443798:L2382P	ENSP00000353174:L2396P	L	+	2	0	RYR2	235870897	1.000000	0.71417	0.922000	0.36590	0.947000	0.59692	7.937000	0.87672	2.254000	0.74563	0.482000	0.46254	CTC		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	13	0	0	0	1	0	16	13					C	237804274	T	C	237804274	3	2	240	1	0	0	0	0	1	0	0	0	13769	1551	54	3	7379	3	RYR2	1	237804274	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	36451819	237804274	11446347	5	28344											
C2orf68	388969	broad.mit.edu	37	chr2	85839085	85839085	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcagcagtgccccggcCggggatgcggccccgcctcc	15	18	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:85839085C>G	ENST00000306336.5	-	1	67	c.23G>C	c.(22-24)cGg>cCg	p.R8P	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron|C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	8										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGCCCCGGCCGGGGATGCGG	0.731																																						ENST00000306336.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)	3						c.(22-24)cGg>cCg		chromosome 2 open reading frame 68							8	13	12					2																	85839085		1752	3962	5714	SO:0001583	missense	388969							g.chr2:85839085C>G		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.23G>C	2.37:g.85839085C>G	ENSP00000304410:p.Arg8Pro					C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P|USP39_ENST00000459775.1_Intron	p.R8P	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN			1	67	-			8					B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	ENST00000306336.5	37	c.23G>C	CCDS42704.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650697	0.14516	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	3.64	0.41730	.	0.374303	0.28952	N	0.013602	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	P;B	0.47604	0.898;0.299	B;B	0.37422	0.224;0.249	T	0.08554	-1.0716	9	0.33940	T	0.23	-7.8254	6.7312	0.23385	0.175:0.7369:0.0:0.0881	.	8;8	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	P	8	.	ENSP00000304410:R8P	R	-	2	0	C2orf68	85692596	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.839000	0.27586	0.852000	0.35287	-0.237000	0.12165	CGG		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649		6	18	0	0	0	1	0	6	18					G	85839085	C	G	85839085	3	3	240	1	0	0	0	0	1	0	0	0	2187	652	23	4	493	4	C2orf68	2	85839085	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		85839085	157360288	6	28345											
GPR45	11250	broad.mit.edu	37	chr2	105858985	105858985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctcaacacggtccgcAagaacgccgtgcgcgtgcac	11	16	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:105858985A>G	ENST00000258456.1	+	1	786	c.670A>G	c.(670-672)Aag>Gag	p.K224E		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACGGTCCGCAAGAACGCCGT	0.672																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(670-672)Aag>Gag		G protein-coupled receptor 45							64	64	64					2																	105858985		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858985A>G	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.670A>G	2.37:g.105858985A>G	ENSP00000258456:p.Lys224Glu						p.K224E	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	786	+			224					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.670A>G	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.953501	0.53293	.	.	ENSG00000135973	ENST00000258456	T	0.42513	0.97	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.122949	0.51477	D	0.000086	T	0.36717	0.0977	L	0.42245	1.32	0.31810	N	0.62722	B	0.24132	0.098	B	0.27076	0.076	T	0.47598	-0.9105	10	0.51188	T	0.08	-17.8855	11.2762	0.49168	0.8473:0.1527:0.0:0.0	.	224	Q9Y5Y3	GPR45_HUMAN	E	224	ENSP00000258456:K224E	ENSP00000258456:K224E	K	+	1	0	GPR45	105225417	0.949000	0.32298	0.922000	0.36590	0.966000	0.64601	2.247000	0.43151	1.922000	0.55676	0.379000	0.24179	AAG		0.672	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		23	62	0	0	0	1	0	23	62					G	105858985	A	G	105858985	3	3	240	1	0	0	0	0	1	0	0	0	6696	131	5	3	672	3	GPR45	2	105858985	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	20019900	105858985	137340388	7	28346											
TTN	7273	broad.mit.edu	37	chr2	179588855	179588855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtcttcgtgtgaaagagGgaggaactgctcggtctgtg	15	7	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:179588855G>A	ENST00000591111.1	-	71	20404	c.20180C>T	c.(20179-20181)cCc>cTc	p.P6727L	TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P7044L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12354	Ig-like 49.				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)			TGTGAAAGAGGGAGGAACTGC	0.423																																						ENST00000589042.1																			0				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						c.(21130-21132)cCc>cTc		titin							56	52	53					2																	179588855		1882	4112	5994	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588855G>A	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.20180C>T	2.37:g.179588855G>A	ENSP00000465570:p.Pro6727Leu					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6727L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA	p.P7044L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	21355	-			6727			Ig-like 52.		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	ENST00000591111.1	37	c.21131C>T		.	.	.	.	.	.	.	.	.	.	G	15.00	2.703678	0.48412	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90546	0.7037	H	0.98048	4.135	0.80722	D	1	P	0.46859	0.885	P	0.44696	0.458	D	0.93248	0.6632	9	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	6727	Q8WZ42	TITIN_HUMAN	L	5800	ENSP00000343764:P5800L	ENSP00000343764:P5800L	P	-	2	0	TTN	179297100	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.229000	0.95273	2.865000	0.98341	0.655000	0.94253	CCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	8	0	0	0	1	0	12	8					A	179588855	G	A	179588855	3	1	240	1	0	0	0	0	1	0	0	0	16732	1232	43	2	83558	2	TTN	2	179588855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	73729870	179588855	63610518	8	28347											
DNAH7	56171	broad.mit.edu	37	chr2	196749379	196749379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttagtgcctttgaggatGtttgctcagtaccactctgt	10	9	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:196749379G>A	ENST00000312428.6	-	35	5793	c.5693C>T	c.(5692-5694)aCa>aTa	p.T1898I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1898					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						CTTTGAGGATGTTTGCTCAGT	0.358																																						ENST00000312428.6																			0				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						c.(5692-5694)aCa>aTa		dynein, axonemal, heavy chain 7							125	119	121					2																	196749379		1907	4115	6022	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196749379G>A	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.5693C>T	2.37:g.196749379G>A	ENSP00000311273:p.Thr1898Ile						p.T1898I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			35	5793	-			1898					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5693C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	1.819	-0.472769	0.04445	.	.	ENSG00000118997	ENST00000312428	T	0.25250	1.81	5.67	-3.06	0.05379	.	1.129900	0.06555	N	0.745641	T	0.16385	0.0394	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	10	0.36615	T	0.2	.	4.6701	0.12685	0.4752:0.0922:0.339:0.0936	.	1898	Q8WXX0	DYH7_HUMAN	I	1898	ENSP00000311273:T1898I	ENSP00000311273:T1898I	T	-	2	0	DNAH7	196457624	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.203000	0.17315	-0.591000	0.05859	-0.136000	0.14681	ACA		0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		13	35	0	0	0	1	0	13	35					A	196749379	G	A	196749379	3	1	240	1	0	0	0	0	1	0	0	0	4606	1377	48	2	6505	2	DNAH7	2	196749379	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	17160524	196749379	46449994	9	28348											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	22	0	0	0	1	0	25	22					T	209113112	C	T	209113112	3	4	240	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	12363733	209113112	34086261	10	28349											
ANKMY1	51281	broad.mit.edu	37	chr2	241468460	241468460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagactagtcacctgaacTtgtaagtttgcttctggatt	9	8	2	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:241468460T>G	ENST00000272972.3	-	4	894	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.K227T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	227							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		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;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCACCTGAACTTGTAAGTTTG	0.522																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(679-681)aAg>aCg		ankyrin repeat and MYND domain containing 1							126	126	126					2																	241468460		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468460T>G	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.680A>C	2.37:g.241468460T>G	ENSP00000272972:p.Lys227Thr					ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.K227T|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron	p.K227T			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	1046	-		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)	227					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.680A>C	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.69|17.69	3.452846|3.452846	0.63290|0.63290	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708|ENST00000443318	T;T;T;T|.	0.61859|.	0.13;0.13;0.07;1.64|.	4.79|4.79	2.37|2.37	0.29283|0.29283	.|.	0.067046|.	0.56097|.	D|.	0.000031|.	T|T	0.64461|0.64461	0.2600|0.2600	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.66196|.	0.942;0.942|.	T|T	0.62153|0.62153	-0.6914|-0.6914	10|5	0.39692|.	T|.	0.17|.	-16.6779|-16.6779	7.9154|7.9154	0.29814|0.29814	0.0:0.1884:0.0:0.8116|0.0:0.1884:0.0:0.8116	.|.	227;227|.	Q4ZFV3;Q9P2S6|.	.;ANKY1_HUMAN|.	T|H	227;227;316;227;227|171	ENSP00000272972:K227T;ENSP00000375847:K227T;ENSP00000385887:K316T;ENSP00000407015:K227T|.	ENSP00000272972:K227T|.	K|Q	-|-	2|3	0|2	ANKMY1|ANKMY1	241117133|241117133	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.839000|0.839000	0.47603|0.47603	0.431000|0.431000	0.21444|0.21444	0.804000|0.804000	0.34136|0.34136	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.522	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		26	117	0	0	0	1	0	26	117					G	241468460	T	G	241468460	3	3	240	1	0	0	0	0	1	0	0	0	634	1609	56	5	2201	5	ANKMY1	2	241468460	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	32355348	241468460	1730913	11	28350											
NBEAL2	23218	broad.mit.edu	37	chr3	47038035	47038035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggctgtggccatctTtcacgaagccctgcaggcga	15	12	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:47038035T>C	ENST00000450053.3	+	16	2605	c.2426T>C	c.(2425-2427)tTt>tCt	p.F809S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	809					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)		GTGGCCATCTTTCACGAAGCC	0.657																																						ENST00000450053.3																			0				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						c.(2425-2427)tTt>tCt		neurobeachin-like 2							11	13	12					3																	47038035		2063	4178	6241	SO:0001583	missense	23218						binding	g.chr3:47038035T>C	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.2426T>C	3.37:g.47038035T>C	ENSP00000415034:p.Phe809Ser					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S	p.F809S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	16	2605	+		Acute lymphoblastic leukemia(5;0.0534)	809					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.2426T>C	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.35|17.35	3.367995|3.367995	0.61513|0.61513	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	T|T;T	0.74842|0.75367	-0.88|-0.93;-0.93	4.52|4.52	4.52|4.52	0.55395|0.55395	.|Concanavalin A-like lectin/glucanase (1);	0.057986|0.057986	0.64402|0.64402	D|D	0.000001|0.000001	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70016	.|0.967	D|D	0.85868|0.85868	0.1414|0.1414	8|10	0.39692|0.87932	T|D	0.17|0	.|.	12.8116|12.8116	0.57643|0.57643	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|809	.|Q6ZNJ1	.|NBEL2_HUMAN	L|S	281|809	ENSP00000410405:F281L|ENSP00000292309:F809S;ENSP00000415034:F809S	ENSP00000410405:F281L|ENSP00000292309:F809S	F|F	+|+	1|2	0|0	NBEAL2|NBEAL2	47013039|47013039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.695000|0.695000	0.40330|0.40330	6.068000|6.068000	0.71201|0.71201	1.889000|1.889000	0.54706|0.54706	0.379000|0.379000	0.24179|0.24179	TTC|TTT		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		6	10	0	0	0	1	0	6	10					C	47038035	T	C	47038035	3	2	240	1	0	0	0	0	1	0	0	0	10189	1841	64	3	2488	3	NBEAL2	3	47038035	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		47038035	150984395	12	28351											
P2RY12	64805	broad.mit.edu	37	chr3	151056104	151056104	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaactctgatttaaggAaagagcatttcttcacattc	7	9	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:151056104A>T	ENST00000302632.3	-	3	829	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGATTTAAGGAAAGAGCATTT	0.368																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(529-531)tTc>tAc		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						106	103	104					3																	151056104		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151056104A>T	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.530T>A	3.37:g.151056104A>T	ENSP00000307259:p.Phe177Tyr					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	p.F177Y	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	829	-			177					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.530T>A	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724373	0.68959	.	.	ENSG00000169313	ENST00000302632	T	0.37915	1.17	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.166784	0.56097	D	0.000038	T	0.19208	0.0461	N	0.14661	0.345	0.27310	N	0.957342	B	0.18741	0.03	B	0.22152	0.038	T	0.19063	-1.0317	10	0.02654	T	1	-30.1639	11.5223	0.50558	0.866:0.0:0.0:0.134	.	177	Q9H244	P2Y12_HUMAN	Y	177	ENSP00000307259:F177Y	ENSP00000307259:F177Y	F	-	2	0	P2RY12	152538794	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.000000	0.40816	2.174000	0.68829	0.533000	0.62120	TTC		0.368	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			18	49	0	0	0	1	0	18	49					T	151056104	A	T	151056104	3	4	240	1	0	0	0	0	1	0	0	0	11349	246	9	5	502	5	P2RY12	3	151056104	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	104018069	151056104	46966326	13	28352											
RGS12	6002	broad.mit.edu	37	chr4	3318009	3318009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacggattcacgctttcgGgacaggcaccctgtgtgctc	12	13	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:3318009G>A	ENST00000344733.5	+	2	1016	c.112G>A	c.(112-114)Gga>Aga	p.G38R	RGS12_ENST00000382788.3_Missense_Mutation_p.G38R|RGS12_ENST00000336727.3_Missense_Mutation_p.G38R|RGS12_ENST00000543385.1_Missense_Mutation_p.G38R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	38	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGCTTTCGGGACAGGCACC	0.637																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(112-114)Gga>Aga		regulator of G-protein signaling 12							58	59	59					4																	3318009		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318009G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.112G>A	4.37:g.3318009G>A	ENSP00000339381:p.Gly38Arg					RGS12_ENST00000543385.1_Missense_Mutation_p.G38R|RGS12_ENST00000382788.3_Missense_Mutation_p.G38R|RGS12_ENST00000344733.5_Missense_Mutation_p.G38R	p.G38R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1016	+			38			PDZ.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.112G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717932	0.68844	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.63843	1.955	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	T	0.77528	-0.2554	10	0.87932	D	0	-27.9913	16.6574	0.85232	0.0:0.0:1.0:0.0	.	38;38;38	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	38	ENSP00000440566:G38R;ENSP00000339381:G38R;ENSP00000338509:G38R;ENSP00000372238:G38R	ENSP00000338509:G38R	G	+	1	0	RGS12	3287807	1.000000	0.71417	0.040000	0.18447	0.185000	0.23345	9.466000	0.97665	2.166000	0.68216	0.313000	0.20887	GGA		0.637	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		18	170	0	0	0	1	0	18	170					A	3318009	G	A	3318009	3	1	240	1	0	0	0	0	1	0	0	0	13295	1233	43	2	114	2	RGS12	4	3318009	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		3318009	187836267	14	28353											
FRYL	285527	broad.mit.edu	37	chr4	48536663	48536663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagactataaataatctgtaGtaatgattgctgcatactgg	8	5	1	2	rs371771105		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:48536663G>A	ENST00000503238.1	-	46	6603	c.6604C>T	c.(6604-6606)Cta>Tta	p.L2202L	FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.L2202L			O94915	FRYL_HUMAN	FRY-like	2202					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						ATAATCTGTAGTAATGATTGC	0.313																																						ENST00000537810.1																			0				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						c.(6604-6606)Cta>Tta		FRY-like							76	70	72					4																	48536663		1811	4086	5897	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48536663G>A	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.6604C>T	4.37:g.48536663G>A						FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000503238.1_Silent_p.L2202L	p.L2202L			O94915	FRYL_HUMAN			49	7208	-			2202					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.6604C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281617	0.01398	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.76557	0.4004	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74548	-0.3629	4	.	.	.	.	19.7773	0.96399	0.0:0.0:1.0:0.0	.	.	.	.	I	1071	.	.	T	-	2	0	FRYL	48231420	1.000000	0.71417	0.140000	0.22221	0.016000	0.09150	3.572000	0.53849	2.680000	0.91292	0.650000	0.86243	ACT		0.313	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			34	15	0	0	0	1	0	34	15					A	48536663	G	A	48536663	2	1	240	1	0	0	0	0	0	0	0	1	6064	1020	36	2		2	FRYL	4	48536663	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	45218654	48536663	142617613	15	28354											
SRP72	6731	broad.mit.edu	37	chr4	57340270	57340270	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagcagtgtatagagatctCgtccgaaactcccaagatga	9	9	1	3	rs201653221		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:57340270C>T	ENST00000342756.5	+	4	1126	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SRP72_ENST00000504757.1_Silent_p.L135L|SRP72_ENST00000510663.1_Silent_p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	135					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAGATCTCGTCCGAAACT	0.378																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(403-405)ctC>ctT		signal recognition particle 72kDa							93	89	90					4																	57340270		2203	4300	6503	SO:0001819	synonymous_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340270C>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.405C>T	4.37:g.57340270C>T						SRP72_ENST00000504757.1_Silent_p.L135L|SRP72_ENST00000510663.1_Silent_p.L135L	p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			4	1126	+	Glioma(25;0.08)|all_neural(26;0.101)		135					G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	c.405C>T	CCDS3506.1																																																																																				0.378	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			9	205	0	0	0	1	0	9	205					T	57340270	C	T	57340270	2	4	240	1	0	0	0	0	0	0	0	1	15156	871	31	1		1	SRP72	4	57340270	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	8803607	57340270	133814006	16	28355											
C4orf21	55345	broad.mit.edu	37	chr4	113475127	113475127	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcactttcattttctgagCcagcatgcaagctaaagaat	7	9	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:113475127C>A	ENST00000505019.1	-	22	5335	c.5210G>T	c.(5209-5211)gGc>gTc	p.G1737V		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1737						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)		ATTTTCTGAGCCAGCATGCAA	0.313																																						ENST00000505019.1																			0				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						c.(5209-5211)gGc>gTc		chromosome 4 open reading frame 21							125	127	126					4																	113475127		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113475127C>A																												ENST00000505019.1:c.5210G>T	4.37:g.113475127C>A	ENSP00000424737:p.Gly1737Val						p.G1737V	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	22	5335	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5210G>T		.	.	.	.	.	.	.	.	.	.	C	18.99	3.740144	0.69304	.	.	ENSG00000138658	ENST00000505019	D	0.82255	-1.59	5.75	5.75	0.90469	.	0.160394	0.42821	D	0.000650	D	0.86560	0.5962	L	0.41356	1.27	0.80722	D	1	D;P	0.64830	0.994;0.837	P;P	0.62813	0.907;0.674	T	0.82190	-0.0580	10	0.19590	T	0.45	-12.6058	19.9341	0.97130	0.0:1.0:0.0:0.0	.	1737;195	G5EA02;B3KQX2	.;.	V	1737	ENSP00000424737:G1737V	ENSP00000404365:G635V	G	-	2	0	C4orf21	113694576	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.251000	0.65438	2.711000	0.92665	0.563000	0.77884	GGC		0.313	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			13	116	1	0	1.5739e-10	1	1.59138e-10	13	116					A	113475127	C	A	113475127	3	1	240	1	0	0	0	0	1	0	0	0	2254	739	26	4	1132	4	C4orf21	4	113475127	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	56134857	113475127	77679149	17	28356											
BBS12	166379	broad.mit.edu	37	chr4	123664898	123664898	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatttgaagccagcacAtacattcaacatcatctgca	5	11	4	2	rs369934327		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:123664898A>G	ENST00000314218.3	+	2	2044	c.1851A>G	c.(1849-1851)acA>acG	p.T617T	BBS12_ENST00000542236.1_Silent_p.T617T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	617					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGCCAGCACATACATTCAAC	0.363									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(1849-1851)acA>acG		Bardet-Biedl syndrome 12		A	,	0,4406		0,0,2203	89	86	87		1851,1851	-2.8	0	4		87	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BBS12	NM_001178007.1,NM_152618.2	,	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	,	617/711,617/711	123664898	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664898A>G	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1851A>G	4.37:g.123664898A>G						BBS12_ENST00000314218.3_Silent_p.T617T	p.T617T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	2232	+			617					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.1851A>G	CCDS3728.1																																																																																				0.363	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		12	40	0	0	0	1	0	12	40					G	123664898	A	G	123664898	2	3	240	1	0	0	0	0	0	0	0	1	1337	204	8	3		3	BBS12	4	123664898	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	10189771	123664898	67489378	18	28357											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	14	0	0	0	1	0	8	14					G	149075976	T	G	149075976	2	3	240	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08	25411078	149075976	42078300	19	28358											
TRIML2	205860	broad.mit.edu	37	chr4	189018488	189018488	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactcacctttctaaagAgtattttgcattctaaggga	7	7	3	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:189018488A>G	ENST00000512729.1	-	5	858	c.484T>C	c.(484-486)Tct>Cct	p.S162P	TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	162					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)		CTTTCTAAAGAGTATTTTGCA	0.383																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(484-486)Tct>Cct		tripartite motif family-like 2							156	167	163					4																	189018488		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189018488A>G	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.484T>C	4.37:g.189018488A>G	ENSP00000422581:p.Ser162Pro					TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	p.S162P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		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)	5	858	-		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)	162					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.484T>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	A	9.338	1.062195	0.19987	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.58652	3.52;0.32	4.33	-3.51	0.04696	.	2.430960	0.01641	N	0.024043	T	0.36908	0.0984	N	0.22421	0.69	0.09310	N	1	P;B	0.38335	0.627;0.165	B;B	0.31614	0.133;0.094	T	0.26573	-1.0099	10	0.37606	T	0.19	.	5.0694	0.14598	0.3147:0.2664:0.0:0.4189	.	187;162	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	P	162;187	ENSP00000422581:S162P;ENSP00000317498:S187P	ENSP00000317498:S187P	S	-	1	0	TRIML2	189255482	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.242000	0.18087	-0.538000	0.06281	0.519000	0.50382	TCT		0.383	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		41	57	0	0	0	1	0	41	57					G	189018488	A	G	189018488	3	3	240	1	0	0	0	0	1	0	0	0	16548	304	11	3	691	3	TRIML2	4	189018488	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	39942512	189018488	2135788	20	28359											
CDH9	1007	broad.mit.edu	37	chr5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccccgccgccttcatcgTtgtaggtcacaatgttgtcc	8	15	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:26881636T>C	ENST00000231021.4	-	12	2151	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	660					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						GCCTTCATCGTTGTAGGTCAC	0.428																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				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						c.(1978-1980)aAc>aGc		cadherin 9, type 2 (T1-cadherin)							148	151	150					5																	26881636		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881636T>C	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.1979A>G	5.37:g.26881636T>C	ENSP00000231021:p.Asn660Ser						p.N660S	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2151	-			660					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1979A>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538872	0.45176	.	.	ENSG00000113100	ENST00000231021	T	0.76578	-1.03	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	M	0.69185	2.1	0.49483	D	0.999799	D;D	0.61080	0.985;0.989	D;D	0.71414	0.973;0.969	D	0.85741	0.1337	9	.	.	.	.	13.7586	0.62952	0.0:0.0:0.0:1.0	.	253;660	B4DFP0;Q9ULB4	.;CADH9_HUMAN	S	660	ENSP00000231021:N660S	.	N	-	2	0	CDH9	26917393	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	7.964000	0.87933	1.981000	0.57761	0.455000	0.32223	AAC		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		36	120	0	0	0	1	0	36	120					C	26881636	T	C	26881636	3	2	240	1	0	0	0	0	1	0	0	0	3117	1725	60	3	394	3	CDH9	5	26881636	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		26881636	154033624	21	28360											
EGFLAM	133584	broad.mit.edu	37	chr5	38338820	38338820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttactctgaggttggCgcagataaatccctgcagga	11	9	2	2	rs142461042		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:38338820C>T	ENST00000354891.3	+	3	574	c.228C>T	c.(226-228)ggC>ggT	p.G76G	EGFLAM_ENST00000322350.5_Silent_p.G76G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	76	Fibronectin type-III 1. {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)					CTGAGGTTGGCGCAGATAAAT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.0				Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				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						c.(226-228)ggC>ggT		EGF-like, fibronectin type III and laminin G domains		C	,	2,4404	4.2+/-10.8	0,2,2201	100	95	97		228,228	-4.1	0	5	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EGFLAM	NM_001205301.1,NM_152403.3	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	76/1018,76/1010	38338820	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38338820C>T	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.228C>T	5.37:g.38338820C>T						EGFLAM_ENST00000354891.3_Silent_p.G76G	p.G76G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			3	574	+	all_lung(31;0.000385)		76			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.228C>T	CCDS56363.1																																																																																				0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		24	25	0	0	0	1	0	24	25					T	38338820	C	T	38338820	2	4	240	1	0	0	0	0	0	0	0	1	4966	755	27	1		1	EGFLAM	5	38338820	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	11457184	38338820	142576440	22	28361											
CDKL3	51265	broad.mit.edu	37	chr5	133695594	133695594	+	Frame_Shift_Del	DEL	A	A	-													tctgaagcacttacattattActgtgaagatagtcaattgc							TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:133695594delA	ENST00000265334.4	-	3	472	c.354delT	c.(352-354)agtfs	p.S118fs	CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000521118.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATTATTACTGTGAAGAT	0.338																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(352-354)agfs		cyclin-dependent kinase-like 3							71	65	67					5																	133695594		1829	4080	5909	SO:0001589	frameshift_variant	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133695594delA	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.354delT	5.37:g.133695594delA	ENSP00000265334:p.Ser118fs					CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs	p.S118fs			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	468	-			118			Protein kinase.		D3DQA0|D3DQA1|Q9P114	Frame_Shift_Del	DEL	ENST00000265334.4	37	c.354delT	CCDS47264.1																																																																																				0.338	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		2	4						2	4	---	---	---	---	-	133695594	A	-	133695594	7	5	240	1	0	1	0	1	0	0	0	0	3155	388	14	0	1472	0	CDKL3	5	133695594	Frame_Shift_Del	DEL	A	TCGA-HT-7477-01B-11D-A289-08	95356774	133695594	47219666	23	28362											
SLC26A2	1836	broad.mit.edu	37	chr5	149357883	149357883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgcaattatggttggcaGcactgtaacctttatagctg	9	8	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:149357883G>A	ENST00000286298.4	+	2	936	c.668G>A	c.(667-669)aGc>aAc	p.S223N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	223					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGTTGGCAGCACTGTAACC	0.353																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(667-669)aGc>aAc		solute carrier family 26 (anion exchanger), member 2							109	107	108					5																	149357883		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357883G>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.668G>A	5.37:g.149357883G>A	ENSP00000286298:p.Ser223Asn						p.S223N	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	936	+			223					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.668G>A	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788130	0.31593	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	D;D	0.95238	-3.4;-3.65	5.64	1.51	0.23008	.	0.252039	0.46145	D	0.000307	D	0.92893	0.7739	M	0.61703	1.905	0.25757	N	0.98499	B	0.33549	0.417	B	0.34652	0.187	T	0.83017	-0.0169	10	0.28530	T	0.3	.	19.1026	0.93279	0.0:0.6203:0.3797:0.0	.	223	P50443	S26A2_HUMAN	N	223;114	ENSP00000286298:S223N;ENSP00000426053:S114N	ENSP00000286298:S223N	S	+	2	0	SLC26A2	149338076	0.997000	0.39634	1.000000	0.80357	0.356000	0.29392	2.430000	0.44766	0.264000	0.21851	-0.150000	0.13652	AGC		0.353	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		44	37	0	0	0	1	0	44	37					A	149357883	G	A	149357883	3	1	240	1	0	0	0	0	1	0	0	0	14517	971	34	2	670	2	SLC26A2	5	149357883	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	15662289	149357883	31557377	24	28363											
PGK2	5232	broad.mit.edu	37	chr6	49754106	49754106	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggccatgatatctttaacGatcttggctccctcttcatc	6	12	4	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:49754106G>A	ENST00000304801.3	-	1	947	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	265					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)					TATCTTTAACGATCTTGGCTC	0.418																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(793-795)atC>atT		phosphoglycerate kinase 2							136	128	130					6																	49754106		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754106G>A	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.795C>T	6.37:g.49754106G>A							p.I265I	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	947	-	Lung NSC(77;0.0402)		265					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.795C>T	CCDS4930.1																																																																																				0.418	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			26	143	0	0	0	1	0	26	143					A	49754106	G	A	49754106	2	1	240	1	0	0	0	0	0	0	0	1	11791	1048	37	1		1	PGK2	6	49754106	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		49754106	121360961	25	28364											
RIMS1	22999	broad.mit.edu	37	chr6	72967911	72967911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaactcatcaccgctcaCgttcagtatctcctcatcgc	5	16	6	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:72967911C>T	ENST00000521978.1	+	17	2854	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C	RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R952C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	952					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)				TCACCGCTCACGTTCAGTATC	0.463																																						ENST00000264839.7																			0				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						c.(2854-2856)Cgt>Tgt		regulating synaptic membrane exocytosis 1							93	89	90					6																	72967911		1994	4171	6165	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72967911C>T	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.2854C>T	6.37:g.72967911C>T	ENSP00000428417:p.Arg952Cys					RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R952C	p.R952C			Q86UR5	RIMS1_HUMAN			17	2854	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	952					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	ENST00000521978.1	37	c.2854C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.952439|4.952439	0.92660|0.92660	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.27557|.	1.88;2.23;2.0;2.23;2.06;1.97;2.07;1.76;1.9;2.02;2.23;2.19;2.19;1.66|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.65923|0.65923	0.2738|0.2738	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	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;0.999;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;P;D;D;D;D;D|.	0.91635|.	0.95;0.985;0.997;0.997;0.932;0.999;0.505;0.962;0.988;0.991;0.997;0.997|.	T|T	0.63910|0.63910	-0.6530|-0.6530	10|5	0.87932|.	D|.	0|.	-14.3502|-14.3502	18.729|18.729	0.91728|0.91728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411;426;952;411;425;951;204;952;951;205;952;952|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	C|M	952;952;952;951;952;951;952;951;952;951;951;952;425;426;345;345;411;177|525	ENSP00000430101:R952C;ENSP00000275037:R951C;ENSP00000264839:R952C;ENSP00000429959:R951C;ENSP00000430408:R952C;ENSP00000430502:R951C;ENSP00000430932:R951C;ENSP00000428417:R952C;ENSP00000385649:R425C;ENSP00000428328:R426C;ENSP00000411235:R345C;ENSP00000389503:R345C;ENSP00000428367:R411C;ENSP00000359448:R177C|.	ENSP00000264839:R952C|.	R|T	+|+	1|2	0|0	RIMS1|RIMS1	73024632|73024632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	7.607000|7.607000	0.82883|0.82883	2.434000|2.434000	0.82447|0.82447	0.585000|0.585000	0.79938|0.79938	CGT|ACG		0.463	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			12	18	0	0	0	1	0	12	18					T	72967911	C	T	72967911	3	4	240	1	0	0	0	0	1	0	0	0	13367	536	19	1	3083	1	RIMS1	6	72967911	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	23213805	72967911	98147156	26	28365											
TTK	7272	broad.mit.edu	37	chr6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtaccactagaaatGctggaaattgccctgcggaa	12	9	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:80720598G>A	ENST00000369798.2	+	5	648	c.537G>A	c.(535-537)atG>atA	p.M179I	TTK_ENST00000230510.3_Missense_Mutation_p.M179I|TTK_ENST00000509894.1_Missense_Mutation_p.M179I	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	179					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	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)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(535-537)atG>atA		TTK protein kinase							61	68	66					6																	80720598		2203	4299	6502	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720598G>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.537G>A	6.37:g.80720598G>A	ENSP00000358813:p.Met179Ile					TTK_ENST00000230510.3_Missense_Mutation_p.M179I|TTK_ENST00000369798.2_Missense_Mutation_p.M179I	p.M179I			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1366	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	179					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.537G>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455892	0.63401	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.32753	1.44;1.44;1.44	4.95	4.95	0.65309	.	0.152279	0.64402	D	0.000003	T	0.20251	0.0487	L	0.56769	1.78	0.43047	D	0.994649	B;P	0.36144	0.397;0.539	B;B	0.30251	0.057;0.113	T	0.12941	-1.0528	10	0.72032	D	0.01	.	17.5251	0.87798	0.0:0.0:1.0:0.0	.	179;179	P33981;A8K8U5	TTK_HUMAN;.	I	179	ENSP00000422936:M179I;ENSP00000230510:M179I;ENSP00000358813:M179I	ENSP00000230510:M179I	M	+	3	0	TTK	80777317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.098000	0.50259	2.449000	0.82847	0.561000	0.74099	ATG		0.348	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			20	42	0	0	0	1	0	20	42					A	80720598	G	A	80720598	3	1	240	1	0	0	0	0	1	0	0	0	16717	1319	46	2	551	2	TTK	6	80720598	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	7752687	80720598	90394469	27	28366											
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcagcacccccGccccctctgccgcccccaca	5	27	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2551-2553)ccG>ccC		tubby like protein 4							5	6	6					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2553G>C	6.37:g.158923248G>C						TULP4_ENST00000367094.2_Intron	p.P851P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		4	9	0	0	0	1	0	4	9					C	158923248	G	C	158923248	2	2	240	1	0	0	0	0	0	0	0	1	16773	1074	38	4		4	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	78202650	158923248	12191819	28	28367											
CARD11	84433	broad.mit.edu	37	chr7	2963945	2963945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccctcggattggtgggagGaggaggaggagtggatggag	23	4	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:2963945G>A	ENST00000396946.4	-	15	2265	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	621					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)		TTGGTGGGAGGAGGAGGAGGA	0.607			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				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						c.(1861-1863)tCc>tTc		caspase recruitment domain family, member 11							80	68	72					7																	2963945		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963945G>A	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.1862C>T	7.37:g.2963945G>A	ENSP00000380150:p.Ser621Phe						p.S621F	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2265	-		Ovarian(82;0.0115)	621					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.1862C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585436	0.86748	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.54279	0.58;0.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65878	-0.6061	10	0.87932	D	0	-26.4469	16.815	0.85732	0.0:0.0:1.0:0.0	.	621	Q9BXL7	CAR11_HUMAN	F	621;92	ENSP00000380150:S621F;ENSP00000347695:S92F	ENSP00000347695:S92F	S	-	2	0	CARD11	2930471	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.800000	0.91900	2.416000	0.81992	0.555000	0.69702	TCC		0.607	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		27	63	0	0	0	1	0	27	63					A	2963945	G	A	2963945	3	1	240	1	0	0	0	0	1	0	0	0	2645	1174	41	2	1646	2	CARD11	7	2963945	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		2963945	156174718	29	28368											
DBNL	28988	broad.mit.edu	37	chr7	44097451	44097451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagacagcttctgggccaAagcagaggtgagtgctgccc	13	10	1	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:44097451A>G	ENST00000448521.1	+	6	643	c.545A>G	c.(544-546)aAa>aGa	p.K182R	DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000494774.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	182					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						TTCTGGGCCAAAGCAGAGGTG	0.547																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000494774.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(544-546)aAa>aGa		drebrin-like							98	94	95					7																	44097451		2203	4300	6503	SO:0001583	missense	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44097451A>G	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.545A>G	7.37:g.44097451A>G	ENSP00000411701:p.Lys182Arg					DBNL_ENST00000448521.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R	p.K182R	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN			6	566	+			182					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.545A>G	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468294	0.63625	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475	T;T;T;T;T;T;T	0.31769	1.86;2.22;2.18;2.23;1.48;1.88;2.21	4.92	4.92	0.64577	.	0.045373	0.85682	D	0.000000	T	0.30823	0.0777	L	0.33245	0.995	0.53005	D	0.999966	P;P;B;P;B;P;P;B;B	0.50528	0.847;0.627;0.209;0.936;0.164;0.749;0.743;0.033;0.433	B;B;B;P;B;B;B;B;B	0.47299	0.219;0.219;0.09;0.543;0.108;0.219;0.392;0.035;0.392	T	0.04165	-1.0972	10	0.45353	T	0.12	-15.9682	14.5774	0.68258	1.0:0.0:0.0:0.0	.	79;130;112;133;87;157;182;182;182	B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;.;.;.;.;DBNL_HUMAN;.	R	182;133;79;157;182;182;87;112	ENSP00000411701:K182R;ENSP00000416421:K133R;ENSP00000415173:K79R;ENSP00000405343:K157R;ENSP00000417653:K182R;ENSP00000419992:K182R;ENSP00000417749:K87R	ENSP00000415173:K79R	K	+	2	0	DBNL	44063976	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.056000	0.93881	1.985000	0.57927	0.454000	0.30748	AAA		0.547	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		27	41	0	0	0	1	0	27	41					G	44097451	A	G	44097451	3	3	240	1	0	0	0	0	1	0	0	0	4255	14	1	3	567	3	DBNL	7	44097451	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	41133506	44097451	115041212	30	28369											
TRIP6	7205	broad.mit.edu	37	chr7	100465834	100465834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggggtcggggtcatgcGtcacggcgaccagaccgaca	16	11	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:100465834G>A	ENST00000200457.4	+	3	702	c.342G>A	c.(340-342)gcG>gcA	p.A114A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	114					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGTCATGCGTCACGGCGAC	0.662																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(340-342)gcG>gcA		thyroid hormone receptor interactor 6							39	39	39					7																	100465834		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465834G>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.342G>A	7.37:g.100465834G>A							p.A114A	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			3	702	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		114					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.342G>A	CCDS5708.1																																																																																				0.662	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		19	40	0	0	0	1	0	19	40					A	100465834	G	A	100465834	2	1	240	1	0	0	0	0	0	0	0	1	16556	1132	40	1		1	TRIP6	7	100465834	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	56368383	100465834	58672829	31	28370											
LRRC4	64101	broad.mit.edu	37	chr7	127668930	127668930	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccccctcacctgatacaccGgacggagctgctgttgctgc	11	16	1	1	rs139849197	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:127668930G>C	ENST00000249363.3	-	2	2021	c.1764C>G	c.(1762-1764)tcC>tcG	p.S588S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	588					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGATACACCGGACGGAgctg	0.547																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(1762-1764)tcC>tcG		leucine rich repeat containing 4							108	94	99					7																	127668930		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127668930G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1764C>G	7.37:g.127668930G>C						SND1_ENST00000354725.3_Intron	p.S588S	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	2021	-			588					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.1764C>G	CCDS5799.1																																																																																				0.547	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		20	21	0	0	0	1	0	20	21					C	127668930	G	C	127668930	2	2	240	1	0	0	0	0	0	0	0	1	8997	1103	39	4		4	LRRC4	7	127668930	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	27203096	127668930	31469733	32	28371											
PSD3	23362	broad.mit.edu	37	chr8	18729531	18729531	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgatcacatcccccTgggtgctctctcccaagagc	8	17	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:18729531T>A	ENST00000327040.8	-	3	945	c.843A>T	c.(841-843)ccA>ccT	p.P281P	PSD3_ENST00000440756.2_Silent_p.P281P|PSD3_ENST00000523619.1_Silent_p.P216P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	281					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATCCCCCTGGGTGCTCTC	0.567																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(841-843)ccA>ccT		pleckstrin and Sec7 domain containing 3							58	59	59					8																	18729531		1952	4148	6100	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729531T>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.843A>T	8.37:g.18729531T>A						PSD3_ENST00000523619.1_Silent_p.P216P|PSD3_ENST00000327040.8_Silent_p.P281P	p.P281P			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	945	-			281					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.843A>T	CCDS43720.1																																																																																				0.567	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		24	110	0	0	0	1	0	24	110					A	18729531	T	A	18729531	2	1	240	1	0	0	0	0	0	0	0	1	12648	1567	55	5		5	PSD3	8	18729531	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		18729531	127634491	33	28372											
FUT10	84750	broad.mit.edu	37	chr8	33246920	33246920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcatccatagaggctggaTttttcagctgctgagggagg	15	8	1	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:33246920T>C	ENST00000327671.5	-	4	1404	c.773A>G	c.(772-774)aAt>aGt	p.N258S	FUT10_ENST00000518672.1_Missense_Mutation_p.N230S|FUT10_ENST00000524021.1_Missense_Mutation_p.N230S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.N196S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	258					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGCTGGATTTTTCAGCTG	0.438																																						ENST00000327671.5																			0				cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(772-774)aAt>aGt		fucosyltransferase 10 (alpha (1,3) fucosyltransferase)							113	105	108					8																	33246920		2203	4300	6503	SO:0001583	missense	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33246920T>C	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.773A>G	8.37:g.33246920T>C	ENSP00000332757:p.Asn258Ser					FUT10_ENST00000524021.1_Missense_Mutation_p.N230S|FUT10_ENST00000335589.3_Missense_Mutation_p.N196S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.N230S	p.N258S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	4	1404	-			258					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.773A>G	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	t	8.113	0.779162	0.16120	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.25250	1.95;1.95;1.95;1.81	4.9	-0.699	0.11277	.	0.114429	0.56097	N	0.000025	T	0.19406	0.0466	M	0.66506	2.035	0.31844	N	0.623131	B;B;B;B;B;B	0.27997	0.197;0.008;0.009;0.008;0.069;0.03	B;B;B;B;B;B	0.26310	0.068;0.026;0.041;0.012;0.029;0.043	T	0.25984	-1.0116	10	0.15499	T	0.54	-0.0752	5.5191	0.16923	0.0:0.2396:0.1468:0.6136	.	308;258;230;196;258;300	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	S	258;300;230;230;196	ENSP00000332757:N258S;ENSP00000430428:N230S;ENSP00000429870:N230S;ENSP00000334997:N196S	ENSP00000332757:N258S	N	-	2	0	FUT10	33366462	0.992000	0.36948	0.000000	0.03702	0.567000	0.35839	1.143000	0.31553	-0.282000	0.09128	-0.393000	0.06486	AAT		0.438	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		59	76	0	0	0	1	0	59	76					C	33246920	T	C	33246920	3	2	240	1	0	0	0	0	1	0	0	0	6102	1493	52	3	674	3	FUT10	8	33246920	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	14517389	33246920	113117102	34	28373											
ADAM2	2515	broad.mit.edu	37	chr8	39624672	39624672	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttcaaaaagctcttacTagacagttttcgcagcatgg	7	8	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:39624672T>C	ENST00000265708.4	-	13	1414	c.1311A>G	c.(1309-1311)ctA>ctG	p.L437L	ADAM2_ENST00000521880.1_Splice_Site_p.L437L|ADAM2_ENST00000347580.4_Splice_Site_p.L418L|ADAM2_ENST00000379853.2_Splice_Site_p.L311L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	437	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGCTCTTACTAGACAGTTTT	0.343																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.e13+1		ADAM metallopeptidase domain 2							139	136	137					8																	39624672		2203	4300	6503	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624672T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1311+1A>G	8.37:g.39624672T>C						ADAM2_ENST00000379853.2_Splice_Site_p.L311_splice|ADAM2_ENST00000347580.4_Splice_Site_p.L418_splice|ADAM2_ENST00000521880.1_Splice_Site_p.L437_splice	p.L437_splice	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	13	1414	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	437			Disintegrin.		P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.1311_splice	CCDS34884.1																																																																																				0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Silent	70	81	0	0	0	1	0	70	81					C	39624672	T	C	39624672	5	2	240	1	0	0	0	0	0	0	1	0	241	1536	53	3	928	3	ADAM2	8	39624672	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08	6377752	39624672	106739350	35	28374											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	13	0	0	0	1	0	5	13					G	41790659	T	G	41790659	2	3	240	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08	2165987	41790659	104573363	36	28375											
DPYS	1807	broad.mit.edu	37	chr8	105459580	105459580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtctccattttccgcaTggacctgggcaattgctcca	8	12	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:105459580T>A	ENST00000351513.2	-	3	707	c.575A>T	c.(574-576)cAt>cTt	p.H192L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	192					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTTTCCGCATGGACCTGGGC	0.453																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(574-576)cAt>cTt		dihydropyrimidinase							117	108	111					8																	105459580		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105459580T>A	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.575A>T	8.37:g.105459580T>A	ENSP00000276651:p.His192Leu						p.H192L	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	707	-			192						Missense_Mutation	SNP	ENST00000351513.2	37	c.575A>T	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.012612	0.93346	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.94000	-3.33;-3.33	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.72032	D	0.01	-21.9805	16.5494	0.84464	0.0:0.0:0.0:1.0	.	192	Q14117	DPYS_HUMAN	L	192;139	ENSP00000276651:H192L;ENSP00000430246:H139L	ENSP00000276651:H192L	H	-	2	0	DPYS	105528756	1.000000	0.71417	0.962000	0.40283	0.857000	0.48899	7.698000	0.84413	2.299000	0.77371	0.528000	0.53228	CAT		0.453	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		6	103	0	0	0	1	0	6	103					A	105459580	T	A	105459580	3	1	240	1	0	0	0	0	1	0	0	0	4746	1464	51	5	1012	5	DPYS	8	105459580	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	63668921	105459580	40904442	37	28376											
CSMD3	114788	broad.mit.edu	37	chr8	113347659	113347659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattccaaagcggtattgCcactgaactgaccgatctga	9	11	1	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:113347659C>T	ENST00000297405.5	-	45	7308	c.7064G>A	c.(7063-7065)gGc>gAc	p.G2355D	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2355	CUB 13. {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						AGCGGTATTGCCACTGAACTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(7063-7065)gGc>gAc		CUB and Sushi multiple domains 3							136	122	127					8																	113347659		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113347659C>T	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.7064G>A	8.37:g.113347659C>T	ENSP00000297405:p.Gly2355Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D	p.G2355D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7308	-			2355			CUB 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7064G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261306	0.80246	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.78	4.78	0.61160	CUB (5);	0.000000	0.64402	D	0.000001	T	0.81178	0.4768	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.80843	-0.1201	10	0.35671	T	0.21	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2251;2355;2315	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	2315;2355;1625;2251;2285	ENSP00000345799:G2315D;ENSP00000297405:G2355D;ENSP00000341558:G1625D;ENSP00000412263:G2251D;ENSP00000343124:G2285D	ENSP00000297405:G2355D	G	-	2	0	CSMD3	113416835	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.548000	0.82154	2.649000	0.89929	0.585000	0.79938	GGC		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	99	0	0	0	1	0	4	99					T	113347659	C	T	113347659	3	4	240	1	0	0	0	0	1	0	0	0	3946	739	26	2	4167	2	CSMD3	8	113347659	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	7888079	113347659	33016363	38	28377											
CDC14B	8555	broad.mit.edu	37	chr9	99296298	99296298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggggtgctgccatccGcaaagaaaagatcatggtga	13	8	1	3	rs199974150	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:99296298G>A	ENST00000375241.1	-	9	1308	c.857C>T	c.(856-858)gCg>gTg	p.A286V	CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	286	B.				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)				GCTGCCATCCGCAAAGAAAAG	0.413													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19380	0.001		0.0	False		,,,				2504	0.0					ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(856-858)gCg>gTg		cell division cycle 14B							47	43	45					9																	99296298		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99296298G>A	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.857C>T	9.37:g.99296298G>A	ENSP00000364389:p.Ala286Val					CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V	p.A286V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			9	1308	-		Acute lymphoblastic leukemia(62;0.0559)	286			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.857C>T	CCDS6722.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	6.110	0.388581	0.11581	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.32	3.48	0.39840	Dual specificity phosphatase, catalytic domain (1);	0.120140	0.64402	D	0.000017	T	0.06050	0.0157	N	0.02315	-0.6	0.32525	N	0.535767	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.04013	0.0;0.0;0.001	T	0.33675	-0.9859	10	0.02654	T	1	-9.7128	6.7921	0.23705	0.1438:0.0:0.7125:0.1437	.	286;286;249	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	V	286;286;286;249;286;286	ENSP00000265659:A286V;ENSP00000364389:A286V;ENSP00000364388:A286V;ENSP00000364390:A249V;ENSP00000420572:A286V;ENSP00000364384:A286V	ENSP00000265659:A286V	A	-	2	0	CDC14B	98336119	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.141000	0.64814	0.810000	0.34279	-0.291000	0.09656	GCG		0.413	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		3	32	0	0	0	1	0	3	32					A	99296298	G	A	99296298	3	1	240	1	0	0	0	0	1	0	0	0	3057	1087	38	1	663	1	CDC14B	9	99296298	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		99296298	41917133	39	28378											
FPGS	2356	broad.mit.edu	37	chr9	130569293	130569293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggagcggatccgcatcaAtgggcagcccatcagtcctg	13	13	2	0	rs377363236	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:130569293A>G	ENST00000373247.2	+	5	478	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Missense_Mutation_p.N143S|FPGS_ENST00000393706.2_Missense_Mutation_p.N143S	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	143					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	ATCCGCATCAATGGGCAGCCC	0.657													a|||	2	0.000399361	0.0	0.0	5008	,	,		17834	0.0		0.002	False		,,,				2504	0.0					ENST00000373245.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(427-429)aAt>aGt		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)		SER/ASN,SER/ASN	0,4406		0,0,2203	95	91	92		278,428	5.4	0.9	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FPGS	NM_001018078.1,NM_004957.4	46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	93/538,143/588	130569293	1,13005	2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569293A>G		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.428A>G	9.37:g.130569293A>G	ENSP00000362344:p.Asn143Ser					FPGS_ENST00000393706.2_Missense_Mutation_p.N143S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000373247.2_Missense_Mutation_p.N143S	p.N143S			Q05932	FOLC_HUMAN			5	478	+			143					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.428A>G	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	a	18.74	3.688885	0.68271	0.0	1.16E-4	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.37235	2.55;1.21;2.55;1.21;2.16	5.45	5.45	0.79879	Mur ligase, central (2);	0.043633	0.85682	D	0.000000	T	0.61198	0.2328	M	0.87269	2.87	0.80722	D	1	P;D	0.63880	0.918;0.993	P;P	0.59221	0.773;0.854	T	0.69327	-0.5174	10	0.72032	D	0.01	8.6503	14.7096	0.69218	1.0:0.0:0.0:0.0	.	143;143	Q05932-4;Q05932	.;FOLC_HUMAN	S	143;143;143;143;93;93;93	ENSP00000362344:N143S;ENSP00000362342:N143S;ENSP00000377309:N143S;ENSP00000362325:N143S;ENSP00000362322:N93S	ENSP00000362322:N93S	N	+	2	0	FPGS	129609114	1.000000	0.71417	0.931000	0.37212	0.901000	0.52897	9.122000	0.94380	2.087000	0.62958	0.370000	0.22315	AAT		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			39	136	0	0	0	1	0	39	136					G	130569293	A	G	130569293	3	3	240	1	0	0	0	0	1	0	0	0	6036	101	4	3	446	3	FPGS	9	130569293	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	31272995	130569293	10644138	40	28379											
ZER1	10444	broad.mit.edu	37	chr9	131503855	131503855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgccgttgaaattgaGgaacatctcgcagttgtcag	10	9	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:131503855G>A	ENST00000291900.2	-	11	2102	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	566					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						TTGAAATTGAGGAACATCTCG	0.567																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1696-1698)Ctc>Ttc		zyg-11 related, cell cycle regulator							118	100	106					9																	131503855		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131503855G>A	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.1696C>T	9.37:g.131503855G>A	ENSP00000291900:p.Leu566Phe						p.L566F	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			11	2102	-			566					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1696C>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013701	0.93404	.	.	ENSG00000160445	ENST00000291900	T	0.48836	0.8	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.71159	-0.4674	10	0.54805	T	0.06	-30.3618	17.7317	0.88379	0.0:0.0:1.0:0.0	.	566	Q7Z7L7	ZER1_HUMAN	F	566	ENSP00000291900:L566F	ENSP00000291900:L566F	L	-	1	0	ZER1	130543676	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.025000	0.93694	2.661000	0.90470	0.561000	0.74099	CTC		0.567	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		39	175	0	0	0	1	0	39	175					A	131503855	G	A	131503855	3	1	240	1	0	0	0	0	1	0	0	0	17622	1000	35	2	628	2	ZER1	9	131503855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	934562	131503855	9709576	41	28380											
UNC5B	219699	broad.mit.edu	37	chr10	73046568	73046568	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacactgccaactatacctgCgtggccaagaacatcgtggc	10	13	0	1	rs369869150		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:73046568C>G	ENST00000335350.6	+	5	1091	c.675C>G	c.(673-675)tgC>tgG	p.C225W	UNC5B_ENST00000373192.4_Missense_Mutation_p.C225W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	225	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTATACCTGCGTGGCCAAGA	0.627																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(673-675)tgC>tgG		unc-5 homolog B (C. elegans)							207	194	198					10																	73046568		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73046568C>G	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.675C>G	10.37:g.73046568C>G	ENSP00000334329:p.Cys225Trp					UNC5B_ENST00000373192.4_Missense_Mutation_p.C225W	p.C225W	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			5	1091	+			225			Ig-like C2-type.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.675C>G	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800287	0.70567	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.71341	-0.56;-0.56	5.43	-6.18	0.02085	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90603	0.4546	10	0.87932	D	0	-17.739	16.6775	0.85283	0.0:0.1914:0.0:0.8086	.	225;225	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	W	225	ENSP00000334329:C225W;ENSP00000362288:C225W	ENSP00000334329:C225W	C	+	3	2	UNC5B	72716574	0.002000	0.14202	0.948000	0.38648	0.919000	0.55068	-1.406000	0.02490	-1.150000	0.02840	0.561000	0.74099	TGC		0.627	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	320	0	0	0	1	0	7	320					G	73046568	C	G	73046568	3	3	240	1	0	0	0	0	1	0	0	0	16989	776	27	4	693	4	UNC5B	10	73046568	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		73046568	62488179	42	28381											
PLAC9	219348	broad.mit.edu	37	chr10	81901857	81901857	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgaacccttcagcccTccgcgaggagactcagctca	10	17	3	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:81901857T>A	ENST00000372263.3	+	2	126	c.84T>A	c.(82-84)ccT>ccA	p.P28P	PLAC9_ENST00000372270.2_5'UTR|PLAC9_ENST00000372267.2_Silent_p.P28P	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	28						extracellular region (GO:0005576)				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CCTTCAGCCCTCCGCGAGGAG	0.532																																						ENST00000372263.3																			0				kidney(1)|ovary(1)	2						c.(82-84)ccT>ccA		placenta-specific 9							77	61	66					10																	81901857		2203	4300	6503	SO:0001819	synonymous_variant	219348					extracellular region		g.chr10:81901857T>A		CCDS31232.1	10q23.2	2008-02-04			ENSG00000189129	ENSG00000189129			19255	protein-coding gene	gene with protein product		612857					Standard	NM_001012973		Approved		uc001kbp.1	Q5JTB6	OTTHUMG00000018596	ENST00000372263.3:c.84T>A	10.37:g.81901857T>A						PLAC9_ENST00000372267.2_Silent_p.P28P|PLAC9_ENST00000372270.2_5'UTR	p.P28P	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	Colorectal(32;0.109)		2	126	+	Prostate(51;0.0095)|all_epithelial(25;0.175)		28						Silent	SNP	ENST00000372263.3	37	c.84T>A	CCDS31232.1																																																																																				0.532	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049019.1	NM_001012973		8	51	0	0	0	1	0	8	51					A	81901857	T	A	81901857	2	1	240	1	0	0	0	0	0	0	0	1	12017	1538	54	5		5	PLAC9	10	81901857	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08	8855289	81901857	53632890	43	28382											
OR51D1	390038	broad.mit.edu	37	chr11	4661741	4661741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgggctgttttggagCtgtcctctcggagggcagca	15	10	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:4661741C>A	ENST00000357605.2	+	1	797	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, 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)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTGGAGCTGTCCTCTCG	0.512																																						ENST00000357605.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(721-723)Ctg>Atg		olfactory receptor, family 51, subfamily D, member 1							198	174	182					11																	4661741		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661741C>A	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"GPCR / Class A : Olfactory receptors"	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.721C>A	11.37:g.4661741C>A	ENSP00000350222:p.Leu241Met						p.L241M	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	797	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	241					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.721C>A	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	6.803	0.517220	0.13005	.	.	ENSG00000197428	ENST00000357605	T	0.00051	8.81	4.26	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35677	N	0.003060	T	0.00271	0.0008	L	0.54863	1.705	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50608	-0.8808	10	0.87932	D	0	.	4.0417	0.09755	0.1635:0.5622:0.0:0.2743	.	241	Q8NGF3	O51D1_HUMAN	M	241	ENSP00000350222:L241M	ENSP00000350222:L241M	L	+	1	2	OR51D1	4618317	0.001000	0.12720	0.018000	0.16275	0.022000	0.10575	0.473000	0.22132	0.177000	0.19895	0.462000	0.41574	CTG		0.512	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		17	37	1	0	2.35188e-11	1	2.40473e-11	17	37					A	4661741	C	A	4661741	3	1	240	1	0	0	0	0	1	0	0	0	11093	796	28	4	723	4	OR51D1	11	4661741	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		4661741	130344775	44	28383											
OR4S2	219431	broad.mit.edu	37	chr11	55419308	55419308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcttggaggctaaagGgaaatagttggacttaataa	11	3	1	0	rs541777788		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:55419308G>T	ENST00000312422.2	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	310						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(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GAGGCTAAAGGGAAATAGTTG	0.363																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(928-930)gGg>gTg		olfactory receptor, family 4, subfamily S, member 2							78	76	77					11																	55419308		2172	4003	6175	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419308G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.929G>T	11.37:g.55419308G>T	ENSP00000310337:p.Gly310Val						p.G310V	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	929	+		all_epithelial(135;0.0748)	310					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.929G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166455	0.21621	.	.	ENSG00000174982	ENST00000312422	T	0.08008	3.14	4.44	-2.67	0.06059	.	2.667330	0.01725	N	0.028541	T	0.04003	0.0112	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.37056	-0.9722	10	0.45353	T	0.12	.	0.5667	0.00688	0.3691:0.1307:0.2739:0.2263	.	310	Q8NH73	OR4S2_HUMAN	V	310	ENSP00000310337:G310V	ENSP00000310337:G310V	G	+	2	0	OR4S2	55175884	0.010000	0.17322	0.000000	0.03702	0.029000	0.11900	0.731000	0.26058	-0.261000	0.09405	0.542000	0.68232	GGG		0.363	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		62	85	1	0	1.38814e-16	1	1.45196e-16	62	85					T	55419308	G	T	55419308	3	4	240	1	0	0	0	0	1	0	0	0	11083	1232	43	4	931	4	OR4S2	11	55419308	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50757567	55419308	79587208	45	28384											
FAT3	120114	broad.mit.edu	37	chr11	92624025	92624025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccaacgaaacggatttgGtgggcccgcctgccagctgt	12	14	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:92624025G>T	ENST00000298047.6	+	27	13533	c.13516G>T	c.(13516-13518)Gtg>Ttg	p.V4506L	FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L|FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4506	Pro-rich.				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)				AACGGATTTGGTGGGCCCGCC	0.582										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(13516-13518)Gtg>Ttg		FAT atypical cadherin 3							41	43	42					11																	92624025		1969	4148	6117	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624025G>T	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.13516G>T	11.37:g.92624025G>T	ENSP00000298047:p.Val4506Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L	p.V4506L			Q8TDW7	FAT3_HUMAN			27	13533	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4506			Pro-rich.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.13516G>T		.	.	.	.	.	.	.	.	.	.	G	9.896	1.205517	0.22205	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.85171	-0.77;-0.8;-0.78;-1.95	5.66	5.66	0.87406	.	.	.	.	.	T	0.76737	0.4029	N	0.25647	0.755	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.15052	0.006;0.012	T	0.70200	-0.4937	9	0.28530	T	0.3	.	13.4399	0.61106	0.0808:0.0:0.9192:0.0	.	4474;4506	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	4506;4474;4356;809	ENSP00000298047:V4506L;ENSP00000387040:V4474L;ENSP00000432586:V4356L;ENSP00000436399:V809L	ENSP00000298047:V4506L	V	+	1	0	FAT3	92263673	0.026000	0.19158	0.569000	0.28460	0.988000	0.76386	1.338000	0.33873	2.665000	0.90641	0.655000	0.94253	GTG		0.582	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		23	36	1	0	9.95505e-16	1	1.02944e-15	23	36					T	92624025	G	T	92624025	3	4	240	1	0	0	0	0	1	0	0	0	5691	1261	44	4	13518	4	FAT3	11	92624025	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	37204717	92624025	42382491	46	28385											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					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)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	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.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		11	110	0	0	0	1	0	11	110					C	3649787	T	C	3649787	3	2	240	1	0	0	0	0	1	0	0	0	12542	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		3649787	130202108	47	28386											
TUBGCP3	10426	broad.mit.edu	37	chr13	113181323	113181323	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagtctgatcatgacaAacttggtgcaagaaatttat	11	5	2	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr13:113181323A>C	ENST00000261965.3	-	13	1674	c.1488T>G	c.(1486-1488)gtT>gtG	p.V496V	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Silent_p.V496V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	496					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					GATCATGACAAACTTGGTGCA	0.398																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(1486-1488)gtT>gtG		tubulin, gamma complex associated protein 3							156	134	142					13																	113181323		2203	4300	6503	SO:0001819	synonymous_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113181323A>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1488T>G	13.37:g.113181323A>C						TUBGCP3_ENST00000375669.3_Silent_p.V496V|TUBGCP3_ENST00000462580.1_5'UTR	p.V496V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			13	1674	-	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)		496					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	ENST00000261965.3	37	c.1488T>G	CCDS9525.1																																																																																				0.398	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		9	38	0	0	0	1	0	9	38					C	113181323	A	C	113181323	2	2	240	1	0	0	0	0	0	0	0	1	16764	1	1	5		5	TUBGCP3	13	113181323	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08		113181323	1988555	48	28387											
DLGAP5	9787	broad.mit.edu	37	chr14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaatccttaggtgcaaagGaattcttcccttttattttt	5	7	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:55643912G>A	ENST00000247191.2	-	8	1133	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	306					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						AGGTGCAAAGGAATTCTTCCC	0.383																																						ENST00000247191.2																			0				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						c.(916-918)tCc>tTc		discs, large (Drosophila) homolog-associated protein 5							137	141	140					14																	55643912		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55643912G>A	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.917C>T	14.37:g.55643912G>A	ENSP00000247191:p.Ser306Phe					DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			8	1133	-			306					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.917C>T	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358534	0.82243	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.38722	1.17;1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	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	0.69691	-0.5077	10	0.87932	D	0	.	20.5471	0.99284	0.0:0.0:1.0:0.0	.	306;306	A8MTM6;Q15398	.;DLGP5_HUMAN	F	306	ENSP00000378815:S306F;ENSP00000247191:S306F	ENSP00000247191:S306F	S	-	2	0	DLGAP5	54713665	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	8.260000	0.89857	2.941000	0.99782	0.655000	0.94253	TCC		0.383	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		19	12	0	0	0	1	0	19	12					A	55643912	G	A	55643912	3	1	240	1	0	0	0	0	1	0	0	0	4563	1174	41	2	1766	2	DLGAP5	14	55643912	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		55643912	51705628	49	28388											
RYR3	6263	broad.mit.edu	37	chr15	34040420	34040420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaagctttggttcaacagCgggaaaatgagaagcttcga	13	6	1	2	rs368235252		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:34040420C>T	ENST00000389232.4	+	54	8165	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	4 X approximate repeats.				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)		GGTTCAACAGCGGGAAAATGA	0.567																																						ENST00000389232.4																			0				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						c.(8095-8097)Cgg>Tgg		ryanodine receptor 3		C	TRP/ARG	0,3908		0,0,1954	71	78	76		8095	2.2	1	15		76	1,8299		0,1,4149	no	missense	RYR3	NM_001036.3	101	0,1,6103	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	2699/4871	34040420	1,12207	1954	4150	6104	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040420C>T		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.8095C>T	15.37:g.34040420C>T	ENSP00000373884:p.Arg2699Trp					RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8165	+		all_lung(180;7.18e-09)	2699			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8095C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329750	0.60743	0.0	1.2E-4	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97016	-4.21;-4.21	5.18	2.17	0.27698	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	L	0.38175	1.15	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;P	0.63113	0.911;0.854	D	0.95249	0.8358	10	0.87932	D	0	.	13.9246	0.63955	0.5451:0.4549:0.0:0.0	.	2699;2699	Q15413-2;Q15413	.;RYR3_HUMAN	W	2699	ENSP00000373884:R2699W;ENSP00000399610:R2699W	ENSP00000354735:R2699W	R	+	1	2	RYR3	31827712	0.974000	0.33945	0.994000	0.49952	0.955000	0.61496	0.143000	0.16115	0.290000	0.22444	-0.953000	0.02652	CGG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	70	0	0	0	1	0	4	70					T	34040420	C	T	34040420	3	4	240	1	0	0	0	0	1	0	0	0	13770	759	27	1	8309	1	RYR3	15	34040420	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		34040420	68490972	50	28389											
TTBK2	146057	broad.mit.edu	37	chr15	43132589	43132589	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacatagttgaatcgaTcattcctcccacagccaata	5	13	1	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:43132589T>G	ENST00000267890.6	-	4	368	c.260A>C	c.(259-261)gAt>gCt	p.D87A	TTBK2_ENST00000567840.1_Missense_Mutation_p.D87A|TTBK2_ENST00000567274.1_Missense_Mutation_p.D87A	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTTGAATCGATCATTCCTCCC	0.323																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(259-261)gAt>gCt		tau tubulin kinase 2							133	127	129					15																	43132589		1825	4092	5917	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43132589T>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.260A>C	15.37:g.43132589T>G	ENSP00000267890:p.Asp87Ala					TTBK2_ENST00000567840.1_Missense_Mutation_p.D87A|TTBK2_ENST00000567274.1_Missense_Mutation_p.D87A	p.D87A	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	4	368	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	87			Protein kinase.		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.260A>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955121	0.53293	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.65916	-0.18	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043456	0.85682	D	0.000000	T	0.65760	0.2722	N	0.25825	0.765	0.80722	D	1	P;P;B;P	0.40515	0.719;0.699;0.365;0.581	P;P;B;P	0.54889	0.763;0.472;0.143;0.53	T	0.69964	-0.5002	10	0.87932	D	0	.	15.2175	0.73281	0.0:0.0:0.0:1.0	.	67;18;87;87	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	A	87;17;67	ENSP00000267890:D87A	ENSP00000263802:D67A	D	-	2	0	TTBK2	40919881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.185000	0.77714	2.139000	0.66308	0.477000	0.44152	GAT		0.323	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		5	207	0	0	0	1	0	5	207					G	43132589	T	G	43132589	3	3	240	1	0	0	0	0	1	0	0	0	16674	1435	50	5	3522	5	TTBK2	15	43132589	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	9092169	43132589	59398803	51	28390											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	13	13	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|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 establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(103-105)tGt>tTt		calcium and integrin binding 1 (calmyrin)							49	48	48					15																	90775542		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775542C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.104G>T	15.37:g.90775542C>A	ENSP00000333873:p.Cys35Phe						p.C35F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	265	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		35					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.104G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833964	0.16820	.	.	ENSG00000185043	ENST00000328649	T	0.09073	3.02	5.54	3.54	0.40534	EF-hand-like domain (1);	0.296074	0.39687	N	0.001295	T	0.07143	0.0181	L	0.34521	1.04	0.35816	D	0.824264	B	0.27700	0.186	B	0.33690	0.168	T	0.25117	-1.0141	10	0.11485	T	0.65	-6.3598	10.3555	0.43960	0.1513:0.7031:0.1456:0.0	.	35	Q99828	CIB1_HUMAN	F	35	ENSP00000333873:C35F	ENSP00000333873:C35F	C	-	2	0	CIB1	88576546	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.553000	0.23391	1.543000	0.49345	0.650000	0.86243	TGT		0.587	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			9	24	1	0	1.2476e-16	1	1.32013e-16	9	24					A	90775542	C	A	90775542	3	1	240	1	0	0	0	0	1	0	0	0	3420	478	17	4	491	4	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	47642953	90775542	11755850	52	28391											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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)				TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	9	0	0	0	1	0	72	9					C	7578394	T	C	7578394	3	2	240	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		7578394	73616816	53	28392											
MYO15A	51168	broad.mit.edu	37	chr17	18022907	18022907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctacctggcgggcctcGgcccctacagcccggcctgg	12	19	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:18022907G>A	ENST00000205890.5	+	2	1131	c.793G>A	c.(793-795)Ggc>Agc	p.G265S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	265					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)					GGCGGGCCTCGGCCCCTACAG	0.652																																						ENST00000205890.5																			0				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						c.(793-795)Ggc>Agc		myosin XVA							29	36	33					17																	18022907		2038	4168	6206	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022907G>A	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.793G>A	17.37:g.18022907G>A	ENSP00000205890:p.Gly265Ser						p.G265S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1131	+	all_neural(463;0.228)		265			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.793G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869733	0.33069	.	.	ENSG00000091536	ENST00000205890	D	0.90197	-2.63	5.55	-0.0768	0.13721	.	.	.	.	.	T	0.79787	0.4506	L	0.29908	0.895	0.09310	N	0.999999	B	0.25521	0.128	B	0.12837	0.008	T	0.63585	-0.6604	9	0.27785	T	0.31	.	2.116	0.03713	0.2002:0.202:0.4505:0.1472	.	265	Q9UKN7	MYO15_HUMAN	S	265	ENSP00000205890:G265S	ENSP00000205890:G265S	G	+	1	0	MYO15A	17963632	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.223000	0.17719	-0.184000	0.10567	-1.259000	0.01468	GGC		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		41	64	0	0	0	1	0	41	64					A	18022907	G	A	18022907	3	1	240	1	0	0	0	0	1	0	0	0	10063	1116	39	1	795	1	MYO15A	17	18022907	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	10444513	18022907	63172303	54	28393											
TMEM92	162461	broad.mit.edu	37	chr17	48356660	48356660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggcattgacaacccGgccttctgagtcacctcctg	11	14	2	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:48356660G>A	ENST00000300433.3	+	6	581	c.471G>A	c.(469-471)ccG>ccA	p.P157P	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Silent_p.P157P	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGACAACCCGGCCTTCTGAG	0.597																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(469-471)ccG>ccA		transmembrane protein 92							77	83	81					17																	48356660		2203	4300	6503	SO:0001819	synonymous_variant	162461					integral to membrane		g.chr17:48356660G>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.471G>A	17.37:g.48356660G>A						TMEM92_ENST00000507382.1_Silent_p.P157P	p.P157P	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			6	581	+			157					Q8NBF0	Silent	SNP	ENST00000300433.3	37	c.471G>A	CCDS11562.1																																																																																				0.597	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		4	177	0	0	0	1	0	4	177					A	48356660	G	A	48356660	2	1	240	1	0	0	0	0	0	0	0	1	16218	1103	39	1		1	TMEM92	17	48356660	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	30333753	48356660	32838550	55	28394											
VEZF1	7716	broad.mit.edu	37	chr17	56060673	56060673	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggaagcaatggtttctgatCagggggctccacggcagagc	15	9	2	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:56060673C>G	ENST00000581208.1	-	2	155	c.115G>C	c.(115-117)Gat>Cat	p.D39H	VEZF1_ENST00000584396.1_Missense_Mutation_p.D30H	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|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)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCC	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(88-90)Gat>Cat		vascular endothelial zinc finger 1							97	105	102					17																	56060673		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060673C>G	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.115G>C	17.37:g.56060673C>G	ENSP00000462337:p.Asp39His					VEZF1_ENST00000581208.1_Missense_Mutation_p.D39H	p.D30H			Q14119	VEZF1_HUMAN			2	176	-			39						Missense_Mutation	SNP	ENST00000581208.1	37	c.88G>C	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118457	0.56505	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.68341	-0.5434	9	0.54805	T	0.06	-6.6877	20.1227	0.97969	0.0:1.0:0.0:0.0	.	39	Q14119	VEZF1_HUMAN	H	39	.	ENSP00000258963:D39H	D	-	1	0	VEZF1	53415672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.480000	0.81109	2.764000	0.94973	0.643000	0.83706	GAT		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			77	87	0	0	0	1	0	77	87					G	56060673	C	G	56060673	3	3	240	1	0	0	0	0	1	0	0	0	17152	826	29	4	1470	4	VEZF1	17	56060673	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	7704013	56060673	25134537	56	28395											
C17orf80	55028	broad.mit.edu	37	chr17	71243390	71243390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttacagaaaaattgtgCcgacccctgccctggaagag	10	12	0	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:71243390C>T	ENST00000535032.2	+	5	1853	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	RP11-661C3.2_ENST00000579037.1_RNA|C17orf80_ENST00000359042.2_Silent_p.C580C|C17orf80_ENST00000582793.1_Silent_p.C49C|C17orf80_ENST00000268942.8_Silent_p.C544C|C17orf80_ENST00000577615.1_Silent_p.C544C			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	580						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			aaaaattgtgccgacccctgC	0.463																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1738-1740)tgC>tgT		chromosome 17 open reading frame 80							103	94	97					17																	71243390		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71243390C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1740C>T	17.37:g.71243390C>T						C17orf80_ENST00000535032.2_Silent_p.C580C|C17orf80_ENST00000577615.1_Silent_p.C544C|C17orf80_ENST00000582793.1_Silent_p.C49C|C17orf80_ENST00000268942.8_Silent_p.C544C	p.C580C	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		6	1934	+			580					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.1740C>T	CCDS11694.1																																																																																				0.463	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		4	105	0	0	0	1	0	4	105					T	71243390	C	T	71243390	2	4	240	1	0	0	0	0	0	0	0	1	1885	747	26	2		2	C17orf80	17	71243390	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	15182717	71243390	9951820	57	28396											
DNAI2	64446	broad.mit.edu	37	chr17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaccgagcagggcatcGtcatctcctgcaaccgcaag	13	13	2	0	rs372196782		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:72301394G>A	ENST00000311014.6	+	9	1091	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	DNAI2_ENST00000579490.1_Missense_Mutation_p.V399I|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	342					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						GCAGGGCATCGTCATCTCCTG	0.577									Kartagener syndrome																													ENST00000579490.1																			0				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						c.(1195-1197)Gtc>Atc		dynein, axonemal, intermediate chain 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	93	74	81		1024,1024	3.1	0.8	17		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	342/594,342/606	72301394	1,13005	2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301394G>A	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.1024G>A	17.37:g.72301394G>A	ENSP00000308312:p.Val342Ile					DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I	p.V399I			Q9GZS0	DNAI2_HUMAN			8	1330	+			342					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1195G>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652388	0.03480	0.0	1.16E-4	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.70045	-0.45;-0.45;-0.45	5.06	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.245893	0.41294	N	0.000918	T	0.46425	0.1392	N	0.17764	0.52	0.32559	N	0.531412	B	0.12013	0.005	B	0.14023	0.01	T	0.45396	-0.9264	10	0.10636	T	0.68	-55.354	11.1187	0.48275	0.2235:0.0:0.7765:0.0	.	342	Q9GZS0	DNAI2_HUMAN	I	342;199;342	ENSP00000308312:V342I;ENSP00000302929:V199I;ENSP00000400252:V342I	ENSP00000302929:V199I	V	+	1	0	DNAI2	69812989	0.994000	0.37717	0.782000	0.31804	0.415000	0.31203	2.193000	0.42658	0.558000	0.29135	-1.143000	0.01870	GTC		0.577	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		10	102	0	0	0	1	0	10	102					A	72301394	G	A	72301394	3	1	240	1	0	0	0	0	1	0	0	0	4610	1145	40	1	1054	1	DNAI2	17	72301394	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	1058004	72301394	8893816	58	28397											
CD97	976	broad.mit.edu	37	chr19	14517251	14517251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactttcttgtggtgcgcGtgttccaaggccagggcctg	13	11	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:14517251G>A	ENST00000242786.5	+	15	2010	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CD97_ENST00000358600.3_Missense_Mutation_p.V551M	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	644					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						TGTGGTGCGCGTGTTCCAAGG	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242786.5																			0				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						c.(1930-1932)Gtg>Atg		CD97 molecule							64	48	53					19																	14517251		2200	4298	6498	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517251G>A		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.1930G>A	19.37:g.14517251G>A	ENSP00000242786:p.Val644Met		OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_ENST00000358600.3_Missense_Mutation_p.V551M|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CTC-548K16.5_ENST00000590626.1_RNA	p.V644M	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			15	2010	+			644					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1930G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854066	0.91355	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.37584	1.19;1.19;1.19	4.77	4.77	0.60923	GPCR, family 2-like (1);	1.844740	0.03625	N	0.237049	T	0.73745	0.3626	M	0.92784	3.345	0.48901	D	0.999727	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.59925	-0.7362	10	0.62326	D	0.03	.	15.2837	0.73810	0.0:0.0:1.0:0.0	.	551;595;644	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	M	644;595;551;594	ENSP00000242786:V644M;ENSP00000349918:V595M;ENSP00000351413:V551M	ENSP00000242786:V644M	V	+	1	0	CD97	14378251	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.542000	0.82095	2.200000	0.70718	0.650000	0.86243	GTG		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		3	14	0	0	0	1	0	3	14					A	14517251	G	A	14517251	3	1	240	1	0	0	0	0	1	0	0	0	3049	1145	40	1	1988	1	CD97	19	14517251	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		14517251	44611732	59	28398											
NUDT19	390916	broad.mit.edu	37	chr19	33183087	33183087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcggccgaccgctcggCggactggctgggcctcttcg	17	14	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:33183087C>T	ENST00000397061.3	+	1	221	c.221C>T	c.(220-222)gCg>gTg	p.A74V	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	74	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GACCGCTCGGCGGACTGGCTG	0.751																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(220-222)gCg>gTg		nudix (nucleoside diphosphate linked moiety X)-type motif 19							5	6	5					19																	33183087		1329	3128	4457	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183087C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.221C>T	19.37:g.33183087C>T	ENSP00000380251:p.Ala74Val						p.A74V	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	221	+	Esophageal squamous(110;0.137)		74			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.221C>T	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987759	0.35036	.	.	ENSG00000213965	ENST00000397061	T	0.21932	1.98	4.12	3.06	0.35304	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.480260	0.18317	U	0.144929	T	0.12987	0.0315	N	0.25332	0.735	0.09310	N	1	P	0.44429	0.835	B	0.38655	0.278	T	0.11397	-1.0589	10	0.29301	T	0.29	-0.0659	9.0774	0.36531	0.1669:0.6718:0.1612:0.0	.	74	A8MXV4	NUD19_HUMAN	V	74	ENSP00000380251:A74V	ENSP00000380251:A74V	A	+	2	0	NUDT19	37874927	0.276000	0.24211	0.024000	0.17045	0.070000	0.16714	1.894000	0.39768	1.031000	0.39867	0.313000	0.20887	GCG		0.751	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		9	30	0	0	0	1	0	9	30					T	33183087	C	T	33183087	3	4	240	1	0	0	0	0	1	0	0	0	10736	768	27	1	223	1	NUDT19	19	33183087	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	18665836	33183087	25945896	60	28399											
LILRB1	10859	broad.mit.edu	37	chr19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-													ccatccatcacctgggaacaTgcagggcggtatcgctgtta					rs12462774|rs34880987|rs12460501|rs200526666	byFrequency	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}.		cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(274-279)cacafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143156_55143157delTG	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.276_277delTG	19.37:g.55143156_55143157delTG	ENSP00000379622:p.Ala93fs	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs	p.HA92fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	633_634	+			92			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Del	DEL	ENST00000396331.1	37	c.276_277delTG	CCDS42617.1																																																																																				0.554	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			12	193						12	193	---	---	---	---	-	55143157	TG	-	55143156	7	5	240	1	0	1	0	1	0	0	0	0	8790	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-HT-7477-01B-11D-A289-08	21960069	55143156	3985827	61	28400											
SPATA2	9825	broad.mit.edu	37	chr20	48523042	48523042	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttctggagtgccactcgtGacatggaggccgtcaggtgc	14	11	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr20:48523042G>A	ENST00000422556.1	-	3	1026	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L|SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	226					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCCACTCGTGACATGGAGGC	0.672																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(676-678)tCa>tTa		spermatogenesis associated 2							25	26	26					20																	48523042		2202	4299	6501	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523042G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.677C>T	20.37:g.48523042G>A	ENSP00000416799:p.Ser226Leu					SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L|SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L	p.S226L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1026	-	Hepatocellular(150;0.133)		226					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.677C>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550663	0.45383	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.49720	0.88;0.88;0.77	5.17	5.17	0.71159	.	0.215116	0.38959	N	0.001503	T	0.35653	0.0939	N	0.14661	0.345	0.43919	D	0.996561	B	0.22683	0.073	B	0.24394	0.053	T	0.12041	-1.0563	10	0.40728	T	0.16	-25.7623	18.8582	0.92262	0.0:0.0:1.0:0.0	.	226	Q9UM82	SPAT2_HUMAN	L	226;226;89	ENSP00000289431:S226L;ENSP00000416799:S226L;ENSP00000438855:S89L	ENSP00000289431:S226L	S	-	2	0	SPATA2	47956449	1.000000	0.71417	0.997000	0.53966	0.030000	0.12068	6.440000	0.73435	2.674000	0.91012	0.650000	0.86243	TCA		0.672	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		18	49	0	0	0	1	0	18	49					A	48523042	G	A	48523042	3	1	240	1	0	0	0	0	1	0	0	0	15004	1294	45	2	889	2	SPATA2	20	48523042	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		48523042	14502478	62	28401											
PFKL	5211	broad.mit.edu	37	chr21	45732984	45732984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggactcggccctccaccGcatcatggaggtcatcgatg	11	15	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr21:45732984G>A	ENST00000349048.4	+	5	606	c.551G>A	c.(550-552)cGc>cAc	p.R184H	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R231H	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	184	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)	p.R231L(1)		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)		GCCCTCCACCGCATCATGGAG	0.667																																						ENST00000403390.1																			1	Substitution - Missense(1)	p.R231L(1)	lung(1)	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						c.(691-693)cGc>cAc		phosphofructokinase, liver							126	99	108					21																	45732984		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732984G>A		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.551G>A	21.37:g.45732984G>A	ENSP00000269848:p.Arg184His					PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.R184H	p.R231H			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	692	+			184					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.692G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347975	0.95807	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80566	-1.39;-1.39	4.59	4.59	0.56863	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94970	0.8116	10	0.87932	D	0	-34.907	16.1643	0.81743	0.0:0.0:1.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	H	184;234;231	ENSP00000269848:R184H;ENSP00000384038:R231H	ENSP00000269848:R184H	R	+	2	0	PFKL	44557412	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.385000	0.97223	2.096000	0.63516	0.491000	0.48974	CGC		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			4	172	0	0	0	1	0	4	172					A	45732984	G	A	45732984	3	1	240	1	0	0	0	0	1	0	0	0	11764	1087	38	1	569	1	PFKL	21	45732984	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		45732984	2396911	63	28402											
SCUBE1	80274	broad.mit.edu	37	chr22	43606074	43606074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgaccagaacatcGccgcactcatcctcgatggg	8	15	2	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:43606074G>A	ENST00000360835.4	-	19	2682	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	852	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)				CCAGAACATCGCCGCACTCAT	0.632																																						ENST00000360835.3																			0				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						c.(2554-2556)ggC>ggT		signal peptide, CUB domain, EGF-like 1							104	84	91					22																	43606074		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606074G>A		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.2556C>T	22.37:g.43606074G>A							p.G852G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			19	2682	-		all_neural(38;0.0414)|Ovarian(80;0.07)	852			CUB.		Q5R336	Silent	SNP	ENST00000360835.4	37	c.2556C>T	CCDS14048.1																																																																																				0.632	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		45	14	0	0	0	1	0	45	14					A	43606074	G	A	43606074	2	1	240	1	0	0	0	0	0	0	0	1	13944	1074	38	1		1	SCUBE1	22	43606074	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		43606074	7698492	64	28403											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	5						3	5	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	240	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-HT-7477-01B-11D-A289-08		51239296	104031264	65	28404											
ATRX	546	broad.mit.edu	37	chrX	76940500	76940500	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatacttaaagcaattcTattaaaagaaaagaggaagg	8	3	1	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:76940500T>G	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e8-2		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						92	86	88					X																	76940500		2203	4294	6497	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940500T>G	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.595-2A>C	X.37:g.76940500T>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	809	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146036	0.77888	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3803	0.66907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76827156	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.328000	0.65887	1.844000	0.53588	0.345000	0.21793	.		0.294	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	44	5	0	0	0	1	0	44	5					G	76940500	T	G	76940500	5	3	240	1	0	0	0	0	0	0	1	0	1208	1536	53	5	6997	5	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08	25701204	76940500	78330060	66	28405											
ACTRT1	139741	broad.mit.edu	37	chrX	127185376	127185376	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttgagagtcctgggctgtgGatgcccagctggtcaggtgc	16	9	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:127185376G>T	ENST00000371124.3	-	1	1006	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	270						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGGGCTGTGGATGCCCAGCT	0.512																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(808-810)atC>atA		actin-related protein T1							109	103	105					X																	127185376		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185376G>T	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.810C>A	X.37:g.127185376G>T							p.I270I	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1006	-			270					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.810C>A	CCDS14611.1																																																																																				0.512	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		49	27	1	0	1.51926e-22	1	1.6265e-22	49	27					T	127185376	G	T	127185376	2	4	240	1	0	0	0	0	0	0	0	1	218	1164	41	4		4	ACTRT1	23	127185376	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50244876	127185376	28085184	67	28406											
TNFRSF14	8764	broad.mit.edu	37	chr1	2492072	2492072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttctcaggcaccgagaGtcaggacaccctgtgtcaga	10	13	4	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:2492072G>T	ENST00000355716.4	+	5	769	c.470G>T	c.(469-471)aGt>aTt	p.S157I	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.S157I	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	157					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGCACCGAGAGTCAGGACACC	0.632			"Mis, N, F"		follicular lymphoma																																	ENST00000355716.4				Rec	yes		1	1p36.32	8764	"Mis, N, F"	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			L			follicular lymphoma		0				kidney(1)	1						c.(469-471)aGt>aTt		tumor necrosis factor receptor superfamily, member 14							45	45	45					1																	2492072		2202	4299	6501	SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2492072G>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.470G>T	1.37:g.2492072G>T	ENSP00000347948:p.Ser157Ile					TNFRSF14_ENST00000409119.1_Missense_Mutation_p.S157I	p.S157I	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	5	769	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	157					B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.470G>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236806	0.05944	.	.	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000355716	T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	3.5	-0.879	0.10613	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	T	0.45256	0.1333	N	0.22421	0.69	0.09310	N	1	D	0.56521	0.976	P	0.44359	0.447	T	0.36890	-0.9729	9	0.44086	T	0.13	-0.1857	6.7732	0.23604	0.4516:0.0:0.5484:0.0	.	157	Q92956	TNR14_HUMAN	I	157	ENSP00000411854:S157I;ENSP00000415254:S157I;ENSP00000399292:S157I;ENSP00000399533:S157I;ENSP00000386859:S157I;ENSP00000347948:S157I	ENSP00000347948:S157I	S	+	2	0	TNFRSF14	2482346	0.013000	0.17824	0.000000	0.03702	0.280000	0.26924	0.461000	0.21940	-0.275000	0.09219	0.407000	0.27541	AGT		0.632	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			4	13	1	0	0.00909568	1	0.00945951	4	13					T	2492072	G	T	2492072	3	4	241	1	0	0	0	0	1	0	0	0	16286	1029	36	4	488	4	TNFRSF14	1	2492072	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		2492072	246758549	1	28407											
MTOR	2475	broad.mit.edu	37	chr1	11184641	11184641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacacgctcatcctggcgCagatcttcatggccttttag	8	13	4	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:11184641C>T	ENST00000361445.4	-	47	6652	c.6576G>A	c.(6574-6576)ctG>ctA	p.L2192L	MTOR_ENST00000376838.1_Silent_p.L397L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2192	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)	CATCCTGGCGCAGATCTTCAT	0.507																																						ENST00000361445.4																			0				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						c.(6574-6576)ctG>ctA		mechanistic target of rapamycin (serine/threonine kinase)							132	111	118					1																	11184641		2203	4300	6503	SO:0001819	synonymous_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11184641C>T	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.6576G>A	1.37:g.11184641C>T						MTOR_ENST00000376838.1_Silent_p.L397L	p.L2192L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			47	6652	-			2192			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	ENST00000361445.4	37	c.6576G>A	CCDS127.1																																																																																				0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		13	50	0	0	0	1	0	13	50					T	11184641	C	T	11184641	2	4	241	1	0	0	0	0	0	0	0	1	9954	697	25	2		2	MTOR	1	11184641	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08	8692569	11184641	238065980	2	28408											
SPATA6	54558	broad.mit.edu	37	chr1	48771507	48771507	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtctctacataaaagacttCttttcagttccagttcatca	4	10	5	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:48771507C>G	ENST00000371847.3	-	12	1402	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	SPATA6_ENST00000396199.3_Missense_Mutation_p.R341T|SPATA6_ENST00000371843.3_Missense_Mutation_p.R397T	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	413					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAAAGACTTCTTTTCAGTTC	0.353																																						ENST00000371847.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1237-1239)aGa>aCa		spermatogenesis associated 6							208	226	220					1																	48771507		2203	4300	6503	SO:0001583	missense	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48771507C>G	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1238G>C	1.37:g.48771507C>G	ENSP00000360913:p.Arg413Thr					SPATA6_ENST00000396199.3_Missense_Mutation_p.R341T|SPATA6_ENST00000371843.3_Missense_Mutation_p.R397T	p.R413T	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			12	1402	-			413					Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	c.1238G>C	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746483	0.49257	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	T;T;T;T	0.61392	2.24;2.62;2.26;0.11	4.4	4.4	0.53042	.	0.212673	0.43919	D	0.000515	T	0.64472	0.2601	L	0.38175	1.15	0.32931	D	0.517178	P;D;D	0.57899	0.874;0.981;0.981	B;D;D	0.66351	0.443;0.943;0.943	T	0.73238	-0.4046	10	0.87932	D	0	.	12.6588	0.56801	0.0:1.0:0.0:0.0	.	341;397;413	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	T	413;397;341;238	ENSP00000360913:R413T;ENSP00000360909:R397T;ENSP00000379502:R341T;ENSP00000360907:R238T	ENSP00000360907:R238T	R	-	2	0	SPATA6	48544094	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.649000	0.37281	2.454000	0.82982	0.467000	0.42956	AGA		0.353	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		7	164	0	0	0	1	0	7	164					G	48771507	C	G	48771507	3	3	241	1	0	0	0	0	1	0	0	0	15012	913	32	4	236	4	SPATA6	1	48771507	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	37586866	48771507	200479114	3	28409											
PLA2G4A	5321	broad.mit.edu	37	chr1	186946833	186946833	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggagtgctatgtctttaaaCccaagaatcctgatatggag	10	7	1	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:186946833C>G	ENST00000367466.3	+	16	2025	c.1873C>G	c.(1873-1875)Ccc>Gcc	p.P625A	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P565A	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	625	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|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)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TGTCTTTAAACCCAAGAATCC	0.443																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1873-1875)Ccc>Gcc		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						136	123	128					1																	186946833		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186946833C>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1873C>G	1.37:g.186946833C>G	ENSP00000356436:p.Pro625Ala					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P565A	p.P625A	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			16	2025	+			625			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1873C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603409	0.87157	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04502	3.61;3.61	5.98	5.98	0.97165	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.60455	1.87	0.80722	D	1	D;D	0.64830	0.994;0.992	D;D	0.65443	0.935;0.911	T	0.00006	-1.2523	10	0.48119	T	0.1	-13.8293	19.4315	0.94772	0.0:1.0:0.0:0.0	.	565;625	E7EU42;P47712	.;PA24A_HUMAN	A	625;565	ENSP00000356436:P625A;ENSP00000406892:P565A	ENSP00000356436:P625A	P	+	1	0	PLA2G4A	185213456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.838000	0.97847	0.655000	0.94253	CCC		0.443	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		29	82	0	0	0	1	0	29	82					G	186946833	C	G	186946833	3	3	241	1	0	0	0	0	1	0	0	0	12001	507	18	4	1931	4	PLA2G4A	1	186946833	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	138175326	186946833	62303788	4	28410											
GREB1	9687	broad.mit.edu	37	chr2	11728938	11728938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagccccctcttgtacaCgtgctaccagaattcccagt	8	15	2	1	rs151098036	byFrequency	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:11728938C>T	ENST00000381486.2	+	10	1526	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	GREB1_ENST00000381483.2_Missense_Mutation_p.T409M|GREB1_ENST00000234142.5_Missense_Mutation_p.T409M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	409						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTTGTACACGTGCTACCAG	0.592													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20867	0.0		0.001	False		,,,				2504	0.0				Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1225-1227)aCg>aTg		growth regulation by estrogen in breast cancer 1		C	MET/THR,MET/THR	0,4406		0,0,2203	221	170	187		1226,1226	5.2	1	2	dbSNP_134	187	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GREB1	NM_014668.3,NM_033090.2	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	409/1950,409/458	11728938	2,13004	2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11728938C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1226C>T	2.37:g.11728938C>T	ENSP00000370896:p.Thr409Met					GREB1_ENST00000381483.2_Missense_Mutation_p.T409M|GREB1_ENST00000234142.5_Missense_Mutation_p.T409M	p.T409M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	10	1526	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		409					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1226C>T	CCDS42655.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.967897	0.74131	0.0	2.33E-4	ENSG00000196208	ENST00000381486;ENST00000381483;ENST00000234142;ENST00000432985	T;T;T;T	0.46063	3.21;2.2;3.21;0.88	5.24	5.24	0.73138	.	0.132641	0.51477	D	0.000090	T	0.58278	0.2111	L	0.50333	1.59	0.41228	D	0.986553	P;D;D	0.89917	0.939;1.0;0.992	P;D;P	0.91635	0.534;0.999;0.736	T	0.60821	-0.7187	10	0.72032	D	0.01	-14.3956	13.7694	0.63015	0.1535:0.8465:0.0:0.0	.	43;409;409	C9JIG0;Q4ZG55-2;Q4ZG55	.;.;GREB1_HUMAN	M	409;409;409;43	ENSP00000370896:T409M;ENSP00000370892:T409M;ENSP00000234142:T409M;ENSP00000403886:T43M	ENSP00000234142:T409M	T	+	2	0	GREB1	11646389	0.994000	0.37717	0.991000	0.47740	0.956000	0.61745	2.909000	0.48758	2.453000	0.82957	0.650000	0.86243	ACG		0.592	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	86	0	0	0	1	0	6	86					T	11728938	C	T	11728938	3	4	241	1	0	0	0	0	1	0	0	0	6760	536	19	1	1335	1	GREB1	2	11728938	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		11728938	231470435	5	28411											
FSHR	2492	broad.mit.edu	37	chr2	49190307	49190307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcactgtgaggtagatGtggatatagcagccacagat	12	8	0	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:49190307G>T	ENST00000406846.2	-	10	1772	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q	FSHR_ENST00000346173.3_Missense_Mutation_p.H489Q|FSHR_ENST00000541117.1_Missense_Mutation_p.H287Q|FSHR_ENST00000304421.4_Missense_Mutation_p.H525Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	551					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)	TGAGGTAGATGTGGATATAGC	0.527									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				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						c.(1651-1653)caC>caA		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						125	101	109					2																	49190307		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190307G>T		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.1653C>A	2.37:g.49190307G>T	ENSP00000384708:p.His551Gln					FSHR_ENST00000304421.4_Missense_Mutation_p.H525Q|FSHR_ENST00000541117.1_Missense_Mutation_p.H287Q|FSHR_ENST00000346173.3_Missense_Mutation_p.H489Q	p.H551Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1772	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	551					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1653C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145548	0.37923	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.391181	0.30134	N	0.010339	T	0.43897	0.1268	L	0.31664	0.95	0.38621	D	0.951138	D;D;D	0.76494	0.975;0.999;0.975	P;D;P	0.85130	0.811;0.997;0.811	T	0.38564	-0.9655	9	.	.	.	.	9.6749	0.40034	0.156:0.0:0.844:0.0	.	525;489;551	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	551;489;525;287	ENSP00000384708:H551Q;ENSP00000333908:H489Q;ENSP00000306780:H525Q;ENSP00000444172:H287Q	.	H	-	3	2	FSHR	49043811	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.132000	0.42083	1.633000	0.50488	0.655000	0.94253	CAC		0.527	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	29	1	0	0.000442599	1	0.000479483	9	29					T	49190307	G	T	49190307	3	4	241	1	0	0	0	0	1	0	0	0	6073	1368	48	4	438	4	FSHR	2	49190307	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	37461369	49190307	194009066	6	28412											
BAZ2B	29994	broad.mit.edu	37	chr2	160295595	160295595	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaatactttgatcTtcttcttcttcatcttcttc	1	12	9	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:160295595T>A	ENST00000392783.2	-	7	1320	c.825A>T	c.(823-825)gaA>gaT	p.E275D	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E273D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E275D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E273D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	275	Poly-Glu.				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						TACTTTGAtcttcttcttctt	0.363																																						ENST00000392783.2																			0				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						c.(823-825)gaA>gaT		bromodomain adjacent to zinc finger domain, 2B							286	260	269					2																	160295595		1914	4125	6039	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295595T>A	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.825A>T	2.37:g.160295595T>A	ENSP00000376534:p.Glu275Asp					BAZ2B_ENST00000355831.2_Missense_Mutation_p.E275D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E273D|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E273D	p.E275D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			7	1320	-			275			Poly-Glu.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.825A>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135528	0.37728	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.52	-3.08	0.05347	.	.	.	.	.	T	0.08714	0.0216	N	0.20685	0.6	0.29217	N	0.874181	B;D;B;B;B;B	0.56035	0.009;0.974;0.394;0.001;0.001;0.0	B;D;B;B;B;B	0.70487	0.013;0.969;0.255;0.002;0.003;0.001	T	0.09662	-1.0664	9	0.02654	T	1	-10.215	5.8686	0.18791	0.0:0.3717:0.2656:0.3627	.	273;212;275;273;273;275	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	D	273;275;275;273;212	ENSP00000376533:E273D;ENSP00000376534:E275D;ENSP00000348087:E275D;ENSP00000339670:E273D	ENSP00000339670:E273D	E	-	3	2	BAZ2B	160003841	0.940000	0.31905	0.987000	0.45799	0.971000	0.66376	0.221000	0.17680	-0.483000	0.06772	0.460000	0.39030	GAA		0.363	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	108	0	0	0	1	0	13	108					A	160295595	T	A	160295595	3	1	241	1	0	0	0	0	1	0	0	0	1332	1606	56	5	5805	5	BAZ2B	2	160295595	Missense_Mutation	SNP	T	TCGA-HT-7478-01A-11D-2024-08	111105288	160295595	82903778	7	28413											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	56	0	0	0	1	0	29	56					T	209113112	C	T	209113112	3	4	241	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	48817517	209113112	34086261	8	28414											
CXCR2	3579	broad.mit.edu	37	chr2	219000407	219000407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaatcacatcgaccggGctctggatgccaccgagatt	11	14	2	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:219000407G>C	ENST00000318507.2	+	3	1310	c.883G>C	c.(883-885)Gct>Cct	p.A295P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	295					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCGACCGGGCTCTGGATGC	0.592																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(883-885)Gct>Cct		chemokine (C-X-C motif) receptor 2							80	77	78					2																	219000407		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000407G>C	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.883G>C	2.37:g.219000407G>C	ENSP00000319635:p.Ala295Pro						p.A295P	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1310	+			295					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.883G>C	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181010	0.78677	.	.	ENSG00000180871	ENST00000318507	T	0.39056	1.1	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.117709	0.56097	D	0.000029	T	0.77280	0.4107	H	0.96691	3.865	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.85443	0.1156	9	.	.	.	.	17.9176	0.88957	0.0:0.0:1.0:0.0	.	295	P25025	CXCR2_HUMAN	P	295	ENSP00000319635:A295P	.	A	+	1	0	CXCR2	218708652	0.930000	0.31532	0.910000	0.35882	0.500000	0.33767	3.696000	0.54757	2.529000	0.85273	0.456000	0.33151	GCT		0.592	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		27	67	0	0	0	1	0	27	67					C	219000407	G	C	219000407	3	2	241	1	0	0	0	0	1	0	0	0	4091	1203	42	4	885	4	CXCR2	2	219000407	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	9887295	219000407	24198966	9	28415											
UGT1A6	54578	broad.mit.edu	37	chr2	234602275	234602275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatgactttttcccaacgaGtggccaacttccttgttaat	6	11	0	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:234602275G>C	ENST00000305139.6	+	1	764	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'Flank	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	209					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)	TTCCCAACGAGTGGCCAACTT	0.448																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(625-627)Gtg>Ctg									147	143	145					2																	234602275		2203	4300	6503	SO:0001583	missense	0							g.chr2:234602275G>C	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.625G>C	2.37:g.234602275G>C	ENSP00000303174:p.Val209Leu					AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron	p.V209L	NM_001072.3	NP_001063.2				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	764	+		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)						A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.625G>C	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749824	0.15778	.	.	ENSG00000167165	ENST00000305139	T	0.67865	-0.29	5.31	1.26	0.21427	.	.	.	.	.	T	0.53753	0.1816	N	0.26042	0.785	0.20074	N	0.999938	B;B	0.32350	0.366;0.052	B;B	0.38655	0.278;0.232	T	0.48801	-0.9003	9	0.49607	T	0.09	.	6.7591	0.23530	0.2064:0.3746:0.419:0.0	.	209;209	B8K289;P19224	.;UD16_HUMAN	L	209	ENSP00000303174:V209L	ENSP00000303174:V209L	V	+	1	0	UGT1A6	234267014	0.822000	0.29219	0.032000	0.17829	0.232000	0.25224	1.232000	0.32636	0.331000	0.23511	-0.150000	0.13652	GTG		0.448	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		63	127	0	0	0	1	0	63	127					C	234602275	G	C	234602275	3	2	241	1	0	0	0	0	1	0	0	0	16946	1029	36	4	627	4	UGT1A6	2	234602275	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	15601868	234602275	8597098	10	28416											
CEP97	79598	broad.mit.edu	37	chr3	101447686	101447686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttttcttgtgataggccatgGaacagatcaatagctgcaca	9	8	2	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:101447686G>C	ENST00000341893.3	+	4	1104	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CEP97_ENST00000327230.4_Missense_Mutation_p.E118Q|CEP97_ENST00000494050.1_Missense_Mutation_p.E118Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	118					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.E118K(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATAGGCCATGGAACAGATCAA	0.353																																						ENST00000341893.3																			1	Substitution - Missense(1)	p.E118K(1)	skin(1)	cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(352-354)Gaa>Caa		centrosomal protein 97kDa							135	133	133					3																	101447686		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101447686G>C	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.352G>C	3.37:g.101447686G>C	ENSP00000342510:p.Glu118Gln					CEP97_ENST00000494050.1_Missense_Mutation_p.E118Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E118Q	p.E118Q			Q8IW35	CEP97_HUMAN			4	1104	+			118					B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.352G>C	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330412	0.81690	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.61742	0.08;0.08;2.16	5.5	4.62	0.57501	.	0.146488	0.64402	D	0.000012	T	0.64249	0.2581	L	0.49126	1.545	0.58432	D	0.999995	D;P	0.67145	0.996;0.572	P;B	0.53146	0.719;0.41	T	0.69083	-0.5239	10	0.72032	D	0.01	-18.4972	16.0507	0.80760	0.0:0.0:0.8647:0.1353	.	118;118	E9PG22;Q8IW35	.;CEP97_HUMAN	Q	118	ENSP00000342510:E118Q;ENSP00000325881:E118Q;ENSP00000418185:E118Q	ENSP00000325881:E118Q	E	+	1	0	CEP97	102930376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.073000	0.76784	1.441000	0.47550	0.655000	0.94253	GAA		0.353	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		34	59	0	0	0	1	0	34	59					C	101447686	G	C	101447686	3	2	241	1	0	0	0	0	1	0	0	0	3263	1175	41	4	366	4	CEP97	3	101447686	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		101447686	96574744	11	28417											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	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						c.(3139-3141)cAt>cTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>T		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.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			12	79	0	0	0	1	0	12	79					T	178952085	A	T	178952085	3	4	241	1	0	0	0	0	1	0	0	0	11913	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	77504399	178952085	19070345	12	28418											
PDGFRA	5156	broad.mit.edu	37	chr4	55152105	55152105	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagacatcatgcatgAttcgaactatgtgtcgaaag	11	8	1	2	rs121913268|rs121913263|rs121913267|rs121913266|rs121913257|rs121913258		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:55152105A>G	ENST00000257290.5	+	18	2868	c.2537A>G	c.(2536-2538)gAt>gGt	p.D846G	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D606G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in a GIST sample; constitutively activated kinase).		adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I843_D846del(11)|p.I843_S847>T(3)|p.M844_S847del(2)|p.D842_D846>E(2)|p.D842_D846>S(1)|p.D842_S847>EA(1)|p.D842_D846>G(1)|p.H845_N848>P(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATCATGCATGATTCGAACTAT	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		22	Deletion - In frame(13)|Complex - deletion inframe(9)	p.I843_D846del(11)|p.I843_S847>T(3)|p.M844_S847del(2)|p.D842_D846>E(2)|p.D842_D846>S(1)|p.D842_S847>EA(1)|p.D842_D846>G(1)|p.H845_N848>P(1)	soft_tissue(22)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2536-2538)gAt>gGt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						215	191	199					4																	55152105		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152105A>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2537A>G	4.37:g.55152105A>G	ENSP00000257290:p.Asp846Gly	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.D606G	p.D846G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2868	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		846			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2537A>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068950	0.76301	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.83837	-1.77;-1.77	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33110	U	0.005268	D	0.85762	0.5772	N	0.25957	0.775	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.86651	0.1898	10	0.49607	T	0.09	.	16.2483	0.82460	1.0:0.0:0.0:0.0	.	846	P16234	PGFRA_HUMAN	G	606;846	ENSP00000423325:D606G;ENSP00000257290:D846G	ENSP00000423325:D606G	D	+	2	0	FIP1L1;PDGFRA	54846862	1.000000	0.71417	0.977000	0.42913	0.372000	0.29890	9.287000	0.95975	2.237000	0.73441	0.459000	0.35465	GAT		0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		7	141	0	0	0	1	0	7	141					G	55152105	A	G	55152105	3	3	241	1	0	0	0	0	1	0	0	0	11661	333	12	3	2603	3	PDGFRA	4	55152105	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		55152105	136002171	13	28419											
STC2	8614	broad.mit.edu	37	chr5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttatgcagccgaacctgtGccgcagagcgtgggccttac	13	13	0	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr5:172750382G>T	ENST00000265087.4	-	3	1655	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	116					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(346-348)Cac>Aac		stanniocalcin 2							37	33	34					5																	172750382		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172750382G>T	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.346C>A	5.37:g.172750382G>T	ENSP00000265087:p.His116Asn					STC2_ENST00000520593.1_5'UTR	p.H116N	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	1655	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	116						Missense_Mutation	SNP	ENST00000265087.4	37	c.346C>A	CCDS4388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233125|4.233125	0.79688|0.79688	.|.	.|.	ENSG00000113739|ENSG00000113739	ENST00000520648|ENST00000265087;ENST00000518455	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.097540	.|0.64402	.|D	.|0.000001	T|T	0.59569|0.59569	0.2203|0.2203	L|L	0.50919|0.50919	1.6|1.6	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.40398	.|0.716	.|B	.|0.43052	.|0.406	T|T	0.58696|0.58696	-0.7591|-0.7591	5|9	.|0.39692	.|T	.|0.17	-24.4682|-24.4682	19.2469|19.2469	0.93905|0.93905	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116	.|O76061	.|STC2_HUMAN	E|N	69|116;31	.|.	.|ENSP00000265087:H116N	A|H	-|-	2|1	0|0	STC2|STC2	172682988|172682988	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.856000|0.856000	0.48823|0.48823	9.476000|9.476000	0.97823|0.97823	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.592	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		4	28	1	0	0.014758	1	0.0150474	4	28					T	172750382	G	T	172750382	3	4	241	1	0	0	0	0	1	0	0	0	15275	1319	46	4	570	4	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		172750382	8164878	14	28420											
PRDM13	59336	broad.mit.edu	37	chr6	100062262	100062262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaagctgtactcgcGcaagtatgggctcaagatcc	12	11	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr6:100062262G>A	ENST00000369215.4	+	4	2056	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	584					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTGTACTCGCGCAAGTATGGG	0.662																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1780-1782)cGc>cAc		PR domain containing 13							32	40	37					6																	100062262		2118	4230	6348	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062262G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1751G>A	6.37:g.100062262G>A	ENSP00000358217:p.Arg584His					PRDM13_ENST00000369215.4_Missense_Mutation_p.R584H	p.R594H	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2042	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	584					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.1781G>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848637	0.91277	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.07327	3.2;3.2	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000712	T	0.09555	0.0235	N	0.16903	0.455	0.58432	D	0.999995	D	0.89917	1.0	D	0.68621	0.959	T	0.42258	-0.9462	10	0.38643	T	0.18	-30.0475	18.1682	0.89736	0.0:0.0:1.0:0.0	.	584	Q9H4Q3	PRD13_HUMAN	H	584;594	ENSP00000358217:R584H;ENSP00000358216:R594H	ENSP00000358216:R594H	R	+	2	0	PRDM13	100168983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.755000	0.85180	2.463000	0.83235	0.561000	0.74099	CGC		0.662	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			3	26	0	0	0	1	0	3	26					A	100062262	G	A	100062262	3	1	241	1	0	0	0	0	1	0	0	0	12454	1087	38	1	1765	1	PRDM13	6	100062262	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		100062262	71052805	15	28421											
TRIM35	23087	broad.mit.edu	37	chr8	27145295	27145295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatggccaggaccaggggCgacgtggctgggtccgaggt	21	9	0	0	rs201064381		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr8:27145295C>T	ENST00000305364.4	-	6	1337	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	418	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGACCAGGGGCGACGTGGCTG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15647	0.0		0.001	False		,,,				2504	0.0					ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1252-1254)tcG>tcA		tripartite motif containing 35		C		0,4404		0,0,2202	41	37	39		1254	-10	0	8		39	1,8597		0,1,4298	no	coding-synonymous	TRIM35	NM_171982.3		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		418/494	27145295	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145295C>T	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1254G>A	8.37:g.27145295C>T						TRIM35_ENST00000521253.1_3'UTR	p.S418S	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1337	-		Ovarian(32;2.61e-05)	418			B30.2/SPRY.		Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.1254G>A	CCDS6056.2																																																																																				0.667	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		4	10	0	0	0	1	0	4	10					T	27145295	C	T	27145295	2	4	241	1	0	0	0	0	0	0	0	1	16506	755	27	1		1	TRIM35	8	27145295	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		27145295	119218727	16	28422											
TUBB2C	10383	broad.mit.edu	37	chr9	140136262	140136262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggaacgcatcaacgtGtactacaatgaggccaccgg	11	12	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr9:140136262G>A	ENST00000340384.4	+	2	295	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	49					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	GCATCAACGTGTACTACAATG	0.687																																						ENST00000340384.4																			0											c.(145-147)gtG>gtA		tubulin, beta 4B class IVb							44	42	43					9																	140136262		2200	4298	6498	SO:0001819	synonymous_variant	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140136262G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.147G>A	9.37:g.140136262G>A							p.V49V	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			2	295	+			49					A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	c.147G>A	CCDS7039.1																																																																																				0.687	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		5	39	0	0	0	1	0	5	39					A	140136262	G	A	140136262	2	1	241	1	0	0	0	0	0	0	0	1	16753	1364	48	2		2	TUBB2C	9	140136262	Silent	SNP	G	TCGA-HT-7478-01A-11D-2024-08		140136262	1077169	17	28423											
MYO3A	53904	broad.mit.edu	37	chr10	26241102	26241102	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgatccttctgatacatgGgaaatcactgagacaattgg	9	9	2	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:26241102G>C	ENST00000265944.5	+	3	229	c.63G>C	c.(61-63)tgG>tgC	p.W21C	MYO3A_ENST00000376301.1_Missense_Mutation_p.W21C|MYO3A_ENST00000376302.1_Missense_Mutation_p.W21C|MYO3A_ENST00000543632.1_Missense_Mutation_p.W21C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	21	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGATACATGGGAAATCACTG	0.328																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(61-63)tgG>tgC		myosin IIIA							64	68	67					10																	26241102		2201	4297	6498	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26241102G>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.63G>C	10.37:g.26241102G>C	ENSP00000265944:p.Trp21Cys					MYO3A_ENST00000376302.1_Missense_Mutation_p.W21C|MYO3A_ENST00000376301.1_Missense_Mutation_p.W21C|MYO3A_ENST00000543632.1_Missense_Mutation_p.W21C	p.W21C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			3	229	+			21			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.63G>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403503	0.83230	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.43688	2.51;2.51;2.51;0.94	6.1	6.1	0.99115	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	0.71417	0.3337	M	0.84948	2.725	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;0.999;0.996;1.0	T	0.73591	-0.3934	10	0.87932	D	0	.	20.7114	0.99707	0.0:0.0:1.0:0.0	.	21;21;21;21	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	C	21	ENSP00000265944:W21C;ENSP00000365479:W21C;ENSP00000445909:W21C;ENSP00000365478:W21C	ENSP00000265944:W21C	W	+	3	0	MYO3A	26281108	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.852000	0.99516	2.902000	0.99343	0.603000	0.83216	TGG		0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		16	50	0	0	0	1	0	16	50					C	26241102	G	C	26241102	3	2	241	1	0	0	0	0	1	0	0	0	10076	1241	43	4	65	4	MYO3A	10	26241102	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		26241102	109293645	18	28424											
OR5T3	390154	broad.mit.edu	37	chr11	56020656	56020656	+	Frame_Shift_Del	DEL	A	A	-													agtttgaggaacaaagaagtAaaaaaggcagtgaagaaaat							TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:56020656delA	ENST00000303059.3	+	1	981	c.981delA	c.(979-981)gtafs	p.V327fs		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	327						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACAAAGAAGTAAAAAAGGCAG	0.323																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(979-981)gtfs		olfactory receptor, family 5, subfamily T, member 3							40	38	38					11																	56020656		2201	4293	6494	SO:0001589	frameshift_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020656delA	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.981delA	11.37:g.56020656delA	ENSP00000305403:p.Val327fs						p.V327fs	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	981	+	Esophageal squamous(21;0.00448)		327					Q6IFC7	Frame_Shift_Del	DEL	ENST00000303059.3	37	c.981delA	CCDS31524.1																																																																																				0.323	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		18	59						18	59	---	---	---	---	-	56020656	A	-	56020656	7	5	241	1	0	1	0	1	0	0	0	0	11183	349	13	0	983	0	OR5T3	11	56020656	Frame_Shift_Del	DEL	A	TCGA-HT-7478-01A-11D-2024-08		56020656	78985860	19	28425											
TYR	7299	broad.mit.edu	37	chr11	88911234	88911234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaggaatgctgtccacCgtggagcggggacaggagtc	18	8	0	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:88911234C>T	ENST00000263321.5	+	1	615	c.113C>T	c.(112-114)cCg>cTg	p.P38L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	38					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)	TGCTGTCCACCGTGGAGCGGG	0.547																																						ENST00000263321.5																			0				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						c.(112-114)cCg>cTg		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						68	65	66					11																	88911234		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911234C>T	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.113C>T	11.37:g.88911234C>T	ENSP00000263321:p.Pro38Leu					TYR_ENST00000526139.1_3'UTR	p.P38L	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	615	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	38					Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.113C>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	2.876	-0.232789	0.05983	.	.	ENSG00000077498	ENST00000263321	D	0.99070	-5.39	6.07	1.65	0.23941	.	0.827463	0.11514	N	0.556429	D	0.96445	0.8840	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	D	0.91761	0.5420	9	.	.	.	.	5.5667	0.17175	0.1344:0.5517:0.0:0.3138	.	38	P14679	TYRO_HUMAN	L	38	ENSP00000263321:P38L	.	P	+	2	0	TYR	88550882	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.025000	0.12413	0.444000	0.26612	0.655000	0.94253	CCG		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		21	41	0	0	0	1	0	21	41					T	88911234	C	T	88911234	3	4	241	1	0	0	0	0	1	0	0	0	16810	652	23	1	115	1	TYR	11	88911234	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	32890578	88911234	46095282	20	28426											
TEAD4	7004	broad.mit.edu	37	chr12	3129912	3129912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttggagttctctgccttCctggagcagcagcaggaccc	12	12	1	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr12:3129912C>T	ENST00000397122.2	+	7	594	c.309C>T	c.(307-309)ttC>ttT	p.F103F	TEAD4_ENST00000358409.2_Silent_p.F189F|TEAD4_ENST00000359864.2_Silent_p.F232F	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	232					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)			TCTCTGCCTTCCTGGAGCAGC	0.682																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(694-696)ttC>ttT		TEA domain family member 4							57	55	56					12																	3129912		2203	4300	6503	SO:0001819	synonymous_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3129912C>T	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		ENST00000397122.2:c.309C>T	12.37:g.3129912C>T						TEAD4_ENST00000397122.2_Silent_p.F103F|TEAD4_ENST00000358409.2_Silent_p.F189F	p.F232F	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		9	886	+	Ovarian(42;0.211)		232					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	ENST00000397122.2	37	c.696C>T	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	C	2.960	-0.214712	0.06101	.	.	ENSG00000197905	ENST00000544666	.	.	.	5.34	4.45	0.53987	.	.	.	.	.	T	0.60025	0.2237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57533	-0.7795	4	.	.	.	-29.1892	9.4114	0.38494	0.0:0.8393:0.0:0.1607	.	.	.	.	S	155	.	.	P	+	1	0	TEAD4	3000173	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	4.039000	0.57325	1.269000	0.44280	-0.136000	0.14681	CCT		0.682	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		21	51	0	0	0	1	0	21	51					T	3129912	C	T	3129912	2	4	241	1	0	0	0	0	0	0	0	1	15738	854	30	2		2	TEAD4	12	3129912	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		3129912	130721983	21	28427											
RAB15	376267	broad.mit.edu	37	chr14	65417123	65417123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaggatcttctggacgccttCtggtgcgtactagggacaaa	12	9	3	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr14:65417123C>G	ENST00000533601.2	-	5	671	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	RAB15_ENST00000267512.5_Missense_Mutation_p.Q155H|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_3'UTR|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Missense_Mutation_p.E66Q			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	112					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGACGCCTTCTGGTGCGTAC	0.567																																						ENST00000533601.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(334-336)Gaa>Caa		RAB15, member RAS oncogene family							217	193	201					14																	65417123		2203	4300	6503	SO:0001583	missense	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417123C>G	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"RAB, member RAS oncogene"	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.334G>C	14.37:g.65417123C>G	ENSP00000434103:p.Glu112Gln					CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Missense_Mutation_p.Q155H|RAB15_ENST00000426039.3_Missense_Mutation_p.E66Q|RAB15_ENST00000436278.2_3'UTR|CHURC1-FNTB_ENST00000542227.1_Intron	p.E112Q			P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	5	671	-			112					G5EMR7|Q86TX7|Q8IW89	Missense_Mutation	SNP	ENST00000533601.2	37	c.334G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.81|18.81	3.702329|3.702329	0.68501|0.68501	.|.	.|.	ENSG00000139998|ENSG00000139998	ENST00000533601;ENST00000426039;ENST00000554593|ENST00000267512	T;T;T|T	0.77877|0.67523	-1.13;-1.13;-1.13|-0.27	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.594068	.|0.12837	.|N	.|0.435148	T|T	0.62539|0.62539	0.2436|0.2436	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P	.|0.41569	.|0.755	.|B	.|0.44224	.|0.444	T|T	0.66200|0.66200	-0.5983|-0.5983	7|10	0.66056|0.87932	D|D	0.02|0	.|.	18.9094|18.9094	0.92477|0.92477	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|155	.|P59190-2	.|.	Q|H	112;66;66|155	ENSP00000434103:E112Q;ENSP00000433485:E66Q;ENSP00000452195:E66Q|ENSP00000267512:Q155H	ENSP00000434103:E112Q|ENSP00000267512:Q155H	E|Q	-|-	1|3	0|2	RAB15|RAB15	64486876|64486876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.825000|0.825000	0.46686|0.46686	6.974000|6.974000	0.76122|0.76122	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.567	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		19	141	0	0	0	1	0	19	141					G	65417123	C	G	65417123	3	3	241	1	0	0	0	0	1	0	0	0	12901	912	32	4	173	4	RAB15	14	65417123	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		65417123	41932417	22	28428											
UNC13C	440279	broad.mit.edu	37	chr15	54306802	54306802	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagatttttcagaaaatCagtttttcactagaactaat	5	6	3	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr15:54306802C>T	ENST00000260323.11	+	1	1702	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q568*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Q568*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	568					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)		TTCAGAAAATCAGTTTTTCAC	0.428																																						ENST00000545554.1																			0				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						c.(1702-1704)Cag>Tag		unc-13 homolog C (C. elegans)							50	49	49					15																	54306802		1841	4088	5929	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306802C>T	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.1702C>T	15.37:g.54306802C>T	ENSP00000260323:p.Gln568*					UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q568*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q568*	p.Q568*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1702	+			568					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.1702C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	39	7.686945	0.98434	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.8213	0.88651	0.0:1.0:0.0:0.0	.	.	.	.	X	568	.	ENSP00000260323:Q568X	Q	+	1	0	UNC13C	52094094	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.317000	0.79018	2.684000	0.91462	0.655000	0.94253	CAG		0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		12	35	0	0	0	1	0	12	35					T	54306802	C	T	54306802	4	4	241	1	0	0	0	0	0	1	0	0	16983	827	29	2	1704	2	UNC13C	15	54306802	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		54306802	48224590	23	28429											
GNAO1	2775	broad.mit.edu	37	chr16	56388962	56388962	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccggggctgcggcttgtaCtgacctcttgtcctgtatag	12	12	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:56388962C>G	ENST00000262493.6	+	8	1908	c.1062C>G	c.(1060-1062)taC>taG	p.Y354*	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	354					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|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)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCGGCTTGTACTGACCTCTTG	0.527																																						ENST00000262493.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(1060-1062)taC>taG		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							116	95	102					16																	56388962		2198	4300	6498	SO:0001587	stop_gained	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56388962C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.1062C>G	16.37:g.56388962C>G	ENSP00000262493:p.Tyr354*						p.Y354*	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN			8	1908	+		all_neural(199;0.159)	354					P29777|Q8TD72|Q9UMV4	Nonsense_Mutation	SNP	ENST00000262493.6	37	c.1062C>G	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	44	11.026760	0.99505	.	.	ENSG00000087258	ENST00000262493	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	19.7244	0.96157	0.0:1.0:0.0:0.0	.	.	.	.	X	354	.	ENSP00000262493:Y354X	Y	+	3	2	GNAO1	54946463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.675000	0.61619	2.659000	0.90383	0.655000	0.94253	TAC		0.527	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		18	49	0	0	0	1	0	18	49					G	56388962	C	G	56388962	4	3	241	1	0	0	0	0	0	1	0	0	6508	576	20	4	1442	4	GNAO1	16	56388962	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		56388962	33965791	24	28430											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	13	0	0	0	1	0	18	13					T	7577120	C	T	7577120	3	4	241	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		7577120	73618090	25	28431											
GFAP	2670	broad.mit.edu	37	chr17	42987529	42987529	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagccggcggcgttccaTttacaatctggtgagcctgt	13	12	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:42987529T>C	ENST00000253408.5	-	7	1237				GFAP_ENST00000435360.2_Missense_Mutation_p.N424S|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGGCGTTCCATTTACAATCTG	0.547																																						ENST00000435360.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1270-1272)aAt>aGt		glial fibrillary acidic protein							240	209	219					17																	42987529		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987529T>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+453A>G	17.37:g.42987529T>C						GFAP_ENST00000253408.5_Intron|GFAP_ENST00000588735.1_Intron	p.N424S	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN			8	1278	-		Prostate(33;0.0959)	0			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1271A>G	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	T	7.049	0.564146	0.13498	.	.	ENSG00000131095	ENST00000435360	D	0.83914	-1.78	4.52	3.42	0.39159	.	.	.	.	.	T	0.60051	0.2239	N	0.08118	0	0.43531	D	0.995813	B	0.09022	0.002	B	0.12156	0.007	T	0.53085	-0.8488	9	0.02654	T	1	.	7.452	0.27244	0.1918:0.0:0.0:0.8082	.	424	E9PAX3	.	S	424	ENSP00000403962:N424S	ENSP00000403962:N424S	N	-	2	0	GFAP	40343055	0.674000	0.27549	0.532000	0.27989	0.440000	0.31957	0.659000	0.24994	1.016000	0.39470	0.533000	0.62120	AAT		0.547	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		25	77	0	0	0	1	0	25	77					C	42987529	T	C	42987529	1	2	241	0	1	0	0	0	0	0	0	0	6337	1493	52	3		3	GFAP	17	42987529	Intron	SNP	T	TCGA-HT-7478-01A-11D-2024-08	35410409	42987529	38207681	26	28432											
MEP1B	4225	broad.mit.edu	37	chr18	29787227	29787227	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttaggcagagagcacaAttttaacacctatagtgacg	8	9	0	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:29787227A>G	ENST00000269202.6	+	8	607	c.560A>G	c.(559-561)aAt>aGt	p.N187S	MEP1B_ENST00000581447.1_Missense_Mutation_p.N187S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	187	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAGAGCACAATTTTAACACC	0.333																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(559-561)aAt>aGt		meprin A, beta							54	50	51					18																	29787227		1839	4094	5933	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29787227A>G	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.560A>G	18.37:g.29787227A>G	ENSP00000269202:p.Asn187Ser					MEP1B_ENST00000581447.1_Missense_Mutation_p.N187S	p.N187S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			8	607	+			187			Metalloprotease.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.560A>G	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154968	0.78114	.	.	ENSG00000141434	ENST00000269202	T	0.68181	-0.31	5.84	4.65	0.58169	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	H	0.94462	3.54	0.51012	D	0.999904	D	0.89917	1.0	D	0.91635	0.999	D	0.88342	0.2975	10	0.87932	D	0	-29.0956	12.2455	0.54568	0.8724:0.0:0.0:0.1276	.	187	Q16820	MEP1B_HUMAN	S	187	ENSP00000269202:N187S	ENSP00000269202:N187S	N	+	2	0	MEP1B	28041225	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	9.339000	0.96797	0.986000	0.38683	0.482000	0.46254	AAT		0.333	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		4	18	0	0	0	1	0	4	18					G	29787227	A	G	29787227	3	3	241	1	0	0	0	0	1	0	0	0	9476	101	4	3	590	3	MEP1B	18	29787227	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		29787227	48290021	27	28433											
C18orf22	79863	broad.mit.edu	37	chr18	77794645	77794645	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggctcaagaaatttgcctcGaaaaccaagtaatgcggcgg	11	9	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:77794645G>C	ENST00000306735.5	+	1	288	c.150G>C	c.(148-150)tcG>tcC	p.S50S	RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000585474.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank|RP11-795F19.5_ENST00000569722.1_Silent_p.S50S|RBFA_ENST00000262197.7_Silent_p.S50S	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	50					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.S50S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AATTTGCCTCGAAAACCAAGT	0.632																																						ENST00000569722.1																			1	Substitution - coding silent(1)	p.S50S(1)	lung(1)								c.(148-150)tcG>tcC									31	36	34					18																	77794645		2202	4300	6502	SO:0001819	synonymous_variant	0							g.chr18:77794645G>C	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.150G>C	18.37:g.77794645G>C						RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Silent_p.S50S|RBFA_ENST00000306735.5_Silent_p.S50S	p.S50S							1	300	+								Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.150G>C	CCDS12021.1																																																																																				0.632	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		12	34	0	0	0	1	0	12	34					C	77794645	G	C	77794645	2	2	241	1	0	0	0	0	0	0	0	1	1898	1045	37	4		4	C18orf22	18	77794645	Silent	SNP	G	TCGA-HT-7478-01A-11D-2024-08	48007418	77794645	282603	28	28434											
FSD1	79187	broad.mit.edu	37	chr19	4318904	4318904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaggatgccctcaggtcGtgggggacgggaccgcttca	16	11	2	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:4318904G>A	ENST00000221856.6	+	10	1142	c.995G>A	c.(994-996)cGt>cAt	p.R332H	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R332H	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	332	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGGTCGTGGGGGACGG	0.597																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(994-996)cGt>cAt		fibronectin type III and SPRY domain containing 1							65	57	60					19																	4318904		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4318904G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.995G>A	19.37:g.4318904G>A	ENSP00000221856:p.Arg332His					FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R332H	p.R332H	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1142	+			332			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.995G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036834	0.93630	.	.	ENSG00000105255	ENST00000221856	T	0.28895	1.59	4.95	4.95	0.65309	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	L	0.58428	1.81	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	T	0.32322	-0.9911	10	0.15952	T	0.53	.	15.6786	0.77349	0.0:0.0:1.0:0.0	.	332	Q9BTV5	FSD1_HUMAN	H	332	ENSP00000221856:R332H	ENSP00000221856:R332H	R	+	2	0	FSD1	4269904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.740000	0.91579	2.294000	0.77228	0.563000	0.77884	CGT		0.597	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		20	32	0	0	0	1	0	20	32					A	4318904	G	A	4318904	3	1	241	1	0	0	0	0	1	0	0	0	6070	1145	40	1	1033	1	FSD1	19	4318904	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		4318904	54810079	29	28435											
C19orf66	55337	broad.mit.edu	37	chr19	10202008	10202008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgagttccactgccCgaagtgtcggcacaacttcc	10	15	0	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:10202008C>T	ENST00000253110.11	+	6	765	c.467C>T	c.(466-468)cCg>cTg	p.P156L	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Missense_Mutation_p.P105L|C19orf66_ENST00000591813.1_Missense_Mutation_p.P156L	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	156										large_intestine(3)|skin(1)	4						TTCCACTGCCCGAAGTGTCGG	0.692																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(313-315)cCg>cTg		chromosome 19 open reading frame 66							36	40	39					19																	10202008		2051	4186	6237	SO:0001583	missense	55337							g.chr19:10202008C>T		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.467C>T	19.37:g.10202008C>T	ENSP00000253110:p.Pro156Leu					C19orf66_ENST00000253110.11_Missense_Mutation_p.P156L|C19orf66_ENST00000591813.1_Missense_Mutation_p.P156L	p.P105L			Q9NUL5	CS066_HUMAN			6	791	+			156					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Missense_Mutation	SNP	ENST00000253110.11	37	c.314C>T	CCDS45957.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951595	0.53186	.	.	ENSG00000130813	ENST00000253110;ENST00000397881	.	.	.	3.7	2.58	0.30949	.	0.107611	0.35262	N	0.003321	T	0.30792	0.0776	N	0.14661	0.345	0.54753	D	0.999985	B;B;B	0.28512	0.119;0.214;0.214	B;B;B	0.17979	0.011;0.02;0.02	T	0.22626	-1.0211	9	0.45353	T	0.12	-18.7035	10.1711	0.42911	0.0:0.877:0.0:0.123	.	105;156;156	Q9NUL5-2;Q9NUL5-4;Q9NUL5	.;.;CS066_HUMAN	L	156;105	.	ENSP00000253110:P156L	P	+	2	0	C19orf66	10063008	0.714000	0.27936	0.965000	0.40720	0.987000	0.75469	1.358000	0.34102	1.897000	0.54924	0.313000	0.20887	CCG		0.692	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		9	21	0	0	0	1	0	9	21					T	10202008	C	T	10202008	3	4	241	1	0	0	0	0	1	0	0	0	1946	652	23	1	489	1	C19orf66	19	10202008	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	5883104	10202008	48926975	30	28436											
KIAA0892	23383	broad.mit.edu	37	chr19	19456112	19456112	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacaccaccttcttccaGggcctgtactgtgtctctgt	8	14	2	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:19456112G>A	ENST00000392313.6	+	12	1334		c.e12-1		MAU2_ENST00000262815.8_Splice_Site	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor						maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCTTCTTCCAGGGCCTGTACT	0.672																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.e12-1		MAU2 sister chromatid cohesion factor							106	95	99					19																	19456112		2203	4300	6503	SO:0001630	splice_region_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19456112G>A	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1156-1G>A	19.37:g.19456112G>A						MAU2_ENST00000262815.8_Splice_Site		NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			12	1201	+								Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Splice_Site	SNP	ENST00000392313.6	37		CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100755	0.76983	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3976	0.87450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAU2	19317112	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	9.447000	0.97595	2.462000	0.83206	0.561000	0.74099	.		0.672	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	Intron	34	66	0	0	0	1	0	34	66					A	19456112	G	A	19456112	5	1	241	1	0	0	0	0	0	0	1	0	8196	1014	35	2	1201	2	KIAA0892	19	19456112	Splice_Site	SNP	G	TCGA-HT-7478-01A-11D-2024-08	9254104	19456112	39672871	31	28437											
NLRP11	204801	broad.mit.edu	37	chr19	56321528	56321528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctctcccatcaggaAcacattgagattgtttgctg	8	11	3	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56321528A>G	ENST00000589093.1	-	3	541	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	NLRP11_ENST00000592953.1_Missense_Mutation_p.F51L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F150L|NLRP11_ENST00000443188.1_Missense_Mutation_p.F150L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F150L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	150	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)		CCCATCAGGAACACATTGAGA	0.388																																						ENST00000443188.1																			0				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						c.(448-450)Ttc>Ctc		NLR family, pyrin domain containing 11							74	70	71					19																	56321528		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321528A>G	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.448T>C	19.37:g.56321528A>G	ENSP00000466285:p.Phe150Leu					NLRP11_ENST00000360133.3_Missense_Mutation_p.F150L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F51L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F150L|NLRP11_ENST00000589093.1_Missense_Mutation_p.F150L	p.F150L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1158	-		Colorectal(82;0.0002)	150			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.448T>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	7.141	0.581872	0.13749	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.76060	-0.99;-0.99	2.25	-1.17	0.09648	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.62551	0.2437	L	0.34521	1.04	0.09310	N	1	B;B	0.28470	0.213;0.104	B;B	0.33960	0.173;0.155	T	0.54596	-0.8270	9	0.52906	T	0.07	.	7.5834	0.27978	0.3942:0.0:0.6058:0.0	.	150;150	P59045;P59045-2	NAL11_HUMAN;.	L	150	ENSP00000409898:F150L;ENSP00000353251:F150L	ENSP00000353251:F150L	F	-	1	0	NLRP11	61013340	0.003000	0.15002	0.001000	0.08648	0.094000	0.18550	-0.315000	0.08081	-0.402000	0.07633	-0.250000	0.11733	TTC		0.388	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		12	32	0	0	0	1	0	12	32					G	56321528	A	G	56321528	3	3	241	1	0	0	0	0	1	0	0	0	10473	43	2	3	2685	3	NLRP11	19	56321528	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	36865416	56321528	2807455	32	28438											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736304	56736304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaaatctcagggtccaCgtcgtgatttccaagttgag	12	8	1	3	rs550648749		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56736304C>T	ENST00000587340.1	-	4	807	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V38M|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V38M|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	38					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)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAGGGTCCACGTCGTGATTT	0.532																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(112-114)Gtg>Atg		zinc finger and SCAN domain containing 5A							81	80	80					19																	56736304		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56736304C>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.112G>A	19.37:g.56736304C>T	ENSP00000467631:p.Val38Met					ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V38M|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V38M|ZSCAN5A_ENST00000587492.1_Intron	p.V38M			Q9BUG6	ZSA5A_HUMAN			4	807	-			38					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.112G>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	1.111	-0.658154	0.03454	.	.	ENSG00000131848	ENST00000391713	T	0.05786	3.39	2.19	-4.39	0.03611	Retrovirus capsid, C-terminal (1);	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.41179	-0.9523	9	0.34782	T	0.22	.	1.4137	0.02297	0.2044:0.3217:0.3181:0.1558	.	38	Q9BUG6	ZSA5A_HUMAN	M	38	ENSP00000375593:V38M	ENSP00000375593:V38M	V	-	1	0	ZSCAN5A	61428116	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.806000	0.00183	-1.968000	0.01006	-2.418000	0.00219	GTG		0.532	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		14	80	0	0	0	1	0	14	80					T	56736304	C	T	56736304	3	4	241	1	0	0	0	0	1	0	0	0	18235	536	19	1	1394	1	ZSCAN5A	19	56736304	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	414776	56736304	2392679	33	28439											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		6	64	0	0	0	1	0	6	64					C	73811938	G	C	73811938	2	2	241	1	0	0	0	0	0	0	0	1	13390	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-HT-7478-01A-11D-2024-08		73811938	81458622	34	28440											
ATRX	546	broad.mit.edu	37	chrX	76813082	76813082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacagtgactgcttagttActtgccgatcataaatctta	7	8	2	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:76813082A>G	ENST00000373344.5	-	30	6753	c.6539T>C	c.(6538-6540)gTa>gCa	p.V2180A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.V2142A	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2180	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						CTGCTTAGTTACTTGCCGATC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6538-6540)gTa>gCa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						135	122	127					X																	76813082		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813082A>G	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.6539T>C	X.37:g.76813082A>G	ENSP00000362441:p.Val2180Ala					ATRX_ENST00000395603.3_Missense_Mutation_p.V2142A|ATRX_ENST00000480283.1_5'UTR	p.V2180A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6753	-			2180			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6539T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403288	0.62288	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92348	-3.02;-3.02	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.93360	0.7883	L	0.45228	1.405	0.80722	D	1	D;D	0.69078	0.99;0.997	P;P	0.60541	0.861;0.876	D	0.94087	0.7349	10	0.87932	D	0	-9.1585	14.7232	0.69323	1.0:0.0:0.0:0.0	.	2142;2180	P46100-4;P46100	.;ATRX_HUMAN	A	2180;2142	ENSP00000362441:V2180A;ENSP00000378967:V2142A	ENSP00000362441:V2180A	V	-	2	0	ATRX	76699738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.957000	0.93082	1.858000	0.53909	0.486000	0.48141	GTA		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		37	23	0	0	0	1	0	37	23					G	76813082	A	G	76813082	3	3	241	1	0	0	0	0	1	0	0	0	1208	391	14	3	963	3	ATRX	23	76813082	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	3001144	76813082	78457478	35	28441											
PLCH2	9651	broad.mit.edu	37	chr1	2415924	2415924	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagggacgctgggttTtgaagagttctgtgccttct	12	10	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	ENST00000419816.2	+	5	957	c.683T>G	c.(682-684)tTt>tGt	p.F228C	PLCH2_ENST00000449969.1_Missense_Mutation_p.F201C|PLCH2_ENST00000378486.3_Missense_Mutation_p.F228C|PLCH2_ENST00000378488.3_Missense_Mutation_p.F228C|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	228	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(601-603)tTt>tGt		phospholipase C, eta 2							62	71	68					1																	2415924		2068	4205	6273	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2415924T>G	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.683T>G	1.37:g.2415924T>G	ENSP00000389803:p.Phe228Cys					PLCH2_ENST00000378486.3_Missense_Mutation_p.F228C|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.F228C|PLCH2_ENST00000378488.3_Missense_Mutation_p.F228C	p.F201C			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	5	763	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	228			EF-hand 1.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.602T>G		.	.	.	.	.	.	.	.	.	.	T	12.53	1.965621	0.34659	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.74315	-0.83;-0.83;-0.83	3.69	3.69	0.42338	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.989;0.999;0.997	D	0.87877	0.2675	10	0.87932	D	0	.	11.7123	0.51633	0.0:0.0:0.0:1.0	.	75;16;201;228	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	C	201;228;228;75;16	ENSP00000397289:F201C;ENSP00000367747:F228C;ENSP00000367749:F228C	ENSP00000278878:F16C	F	+	2	0	PLCH2	2405784	1.000000	0.71417	0.983000	0.44433	0.533000	0.34776	5.895000	0.69814	1.564000	0.49628	0.459000	0.35465	TTT		0.602	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		8	26	0	0	0	1	0	8	26					G	2415924	T	G	2415924	3	3	242	1	0	0	0	0	1	0	0	0	12038	1841	64	5	701	5	PLCH2	1	2415924	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08		2415924	246834697	1	28442											
ZNF642	339559	broad.mit.edu	37	chr1	40961691	40961691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcacttagtcgacatcAtgaaatacacaggaggaacg	8	10	3	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:40961691A>G	ENST00000372706.1	+	6	2547	c.1541A>G	c.(1540-1542)cAt>cGt	p.H514R	ZFP69_ENST00000372705.3_Missense_Mutation_p.H514R|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTCGACATCATGAAATACAC	0.368																																						ENST00000372706.1																			0											c.(1540-1542)cAt>cGt		ZFP69 zinc finger protein							60	63	62					1																	40961691		2202	4300	6502	SO:0001583	missense	339559							g.chr1:40961691A>G	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1541A>G	1.37:g.40961691A>G	ENSP00000361791:p.His514Arg					ZFP69_ENST00000372705.3_Missense_Mutation_p.H514R|RP11-656D10.3_ENST00000450713.1_RNA	p.H514R							6	2547	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.1541A>G	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	8.742	0.919261	0.17982	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04406	3.63;3.63	4.51	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.347511	0.21206	N	0.078389	T	0.01765	0.0056	N	0.01081	-1.03	0.23023	N	0.998412	B	0.22346	0.068	B	0.16722	0.016	T	0.44559	-0.9320	10	0.39692	T	0.17	-0.1329	8.7897	0.34843	0.9088:0.0:0.0912:0.0	.	514	Q49AA0	ZN642_HUMAN	R	514	ENSP00000361791:H514R;ENSP00000361790:H514R	ENSP00000361790:H514R	H	+	2	0	ZNF642	40734278	0.657000	0.27393	0.999000	0.59377	0.983000	0.72400	2.704000	0.47118	1.043000	0.40175	0.459000	0.35465	CAT		0.368	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		24	78	0	0	0	1	0	24	78					G	40961691	A	G	40961691	3	3	242	1	0	0	0	0	1	0	0	0	18055	217	8	3	1559	3	ZNF642	1	40961691	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08	38545767	40961691	208288930	2	28443											
OR6K2	81448	broad.mit.edu	37	chr1	158670418	158670418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagataaactcctgaaTggtggttcgattggggctct	14	6	1	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	ENST00000359610.2	-	1	68	c.25A>G	c.(25-27)Att>Gtt	p.I9V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(25-27)Att>Gtt		olfactory receptor, family 6, subfamily K, member 2							92	97	95					1																	158670418		2198	4299	6497	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670418T>C	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.25A>G	1.37:g.158670418T>C	ENSP00000352626:p.Ile9Val						p.I9V	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	68	-	all_hematologic(112;0.0378)		9					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.25A>G	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621750	0.00820	.	.	ENSG00000196171	ENST00000359610	T	0.00351	7.97	4.34	-2.24	0.06909	.	0.716348	0.11340	N	0.574194	T	0.00012	0.0000	N	0.00217	-1.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15578	-1.0432	10	0.02654	T	1	0.828	6.8248	0.23876	0.118:0.417:0.0:0.465	.	9	Q8NGY2	OR6K2_HUMAN	V	9	ENSP00000352626:I9V	ENSP00000352626:I9V	I	-	1	0	OR6K2	156937042	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.539000	0.02202	-1.188000	0.02705	-2.770000	0.00120	ATT		0.433	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		15	64	0	0	0	1	0	15	64					C	158670418	T	C	158670418	3	2	242	1	0	0	0	0	1	0	0	0	11202	1464	51	3	953	3	OR6K2	1	158670418	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	117708727	158670418	90580203	3	28444											
MYT1L	23040	broad.mit.edu	37	chr2	1906994	1906994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggccaggttggaacgCggcgtagttgtggggacatt	16	8	0	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	ENST00000399161.2	-	14	2637	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	MYT1L_ENST00000428368.2_Silent_p.P628P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					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)			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)		GGTTGGAACGCGGCGTAGTTG	0.468																																						ENST00000399161.2																			0				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						c.(1888-1890)ccG>ccA		myelin transcription factor 1-like							98	92	94					2																	1906994		1966	4155	6121	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906994C>T	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.1890G>A	2.37:g.1906994C>T						MYT1L_ENST00000428368.2_Silent_p.P628P	p.P630P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2637	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	630					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1890G>A																																																																																					0.468	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		12	30	0	0	0	1	0	12	30					T	1906994	C	T	1906994	2	4	242	1	0	0	0	0	0	0	0	1	10107	755	27	1		1	MYT1L	2	1906994	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		1906994	241292379	4	28445											
ZNF638	27332	broad.mit.edu	37	chr2	71576853	71576853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgttcccaatccaaatGtgatatgtaattctatgttt	5	8	2	1	rs185707555	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:71576853G>A	ENST00000409544.1	+	2	1399	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.V257M|ZNF638_ENST00000377802.2_Missense_Mutation_p.V257M|ZNF638_ENST00000355812.3_Missense_Mutation_p.V257M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	257					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						CAATCCAAATGTGATATGTAA	0.408													G|||	15	0.00299521	0.0	0.0	5008	,	,		22545	0.0149		0.0	False		,,,				2504	0.0					ENST00000409544.1																			0				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						c.(769-771)Gtg>Atg		zinc finger protein 638							128	129	129					2																	71576853		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576853G>A	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.769G>A	2.37:g.71576853G>A	ENSP00000386433:p.Val257Met					ZNF638_ENST00000355812.3_Missense_Mutation_p.V257M|ZNF638_ENST00000264447.4_Missense_Mutation_p.V257M|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.V257M	p.V257M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			2	1399	+			257					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.769G>A	CCDS1917.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	9.829	1.187927	0.21954	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.76968	-0.48;-1.06;0.09;-0.47;1.08;1.08	5.84	2.94	0.34122	.	0.478403	0.22457	N	0.059809	T	0.51261	0.1664	N	0.19112	0.55	0.29302	N	0.86864	B;B;B;B;B	0.32753	0.383;0.25;0.17;0.106;0.061	B;B;B;B;B	0.30572	0.066;0.045;0.117;0.055;0.045	T	0.56347	-0.7994	10	0.72032	D	0.01	-2.0074	5.7601	0.18195	0.1697:0.1579:0.6724:0.0	.	363;257;257;257;257	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	M	257;363;257;257;257;257	ENSP00000386669:V257M;ENSP00000438189:V363M;ENSP00000348066:V257M;ENSP00000367033:V257M;ENSP00000264447:V257M;ENSP00000386433:V257M	ENSP00000264447:V257M	V	+	1	0	ZNF638	71430361	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.268000	0.43338	0.818000	0.34468	0.655000	0.94253	GTG		0.408	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		8	149	0	0	0	1	0	8	149					A	71576853	G	A	71576853	3	1	242	1	0	0	0	0	1	0	0	0	18052	1377	48	2	771	2	ZNF638	2	71576853	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	69669859	71576853	171622520	5	28446											
MOGS	7841	broad.mit.edu	37	chr2	74688527	74688527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcctggtactggcGccatacattgcctaccacgt	10	14	0	0	rs554882882		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	ENST00000233616.4	-	4	2551	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C	MOGS_ENST00000452063.2_Missense_Mutation_p.R691C|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	797					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						TGGTACTGGCGCCATACATTG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.0		0.0	False		,,,				2504	0.001					ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2389-2391)Cgc>Tgc		mannosyl-oligosaccharide glucosidase							66	72	70					2																	74688527		2073	4194	6267	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688527G>A	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.2389C>T	2.37:g.74688527G>A	ENSP00000233616:p.Arg797Cys					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R691C	p.R797C	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2551	-			797					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2389C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751668	0.49362	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.40225	1.04;1.04	4.48	3.59	0.41128	Six-hairpin glycosidase-like (1);	0.118042	0.56097	D	0.000039	T	0.58495	0.2126	M	0.81341	2.54	0.80722	D	1	D	0.71674	0.998	P	0.56823	0.807	T	0.65146	-0.6239	10	0.72032	D	0.01	-14.4164	11.7974	0.52108	0.0:0.0:0.8229:0.1771	.	797	Q13724	MOGS_HUMAN	C	797;691	ENSP00000233616:R797C;ENSP00000388201:R691C	ENSP00000233616:R797C	R	-	1	0	MOGS	74542035	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	2.801000	0.47908	1.209000	0.43321	0.563000	0.77884	CGC		0.622	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		26	75	0	0	0	1	0	26	75					A	74688527	G	A	74688527	3	1	242	1	0	0	0	0	1	0	0	0	9697	1087	38	1	128	1	MOGS	2	74688527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	3111674	74688527	168510846	6	28447											
FAM123C	205147	broad.mit.edu	37	chr2	131521009	131521009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagggccggccctggggaCgccactgtccatatgcagct	14	14	1	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:131521009C>T	ENST00000423981.1	+	2	1474	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	AMER3_ENST00000321420.4_Missense_Mutation_p.T455M	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	455					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCCCTGGGGACGCCACTGTCC	0.652																																						ENST00000423981.1																			0											c.(1363-1365)aCg>aTg		APC membrane recruitment protein 3							33	36	35					2																	131521009		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131521009C>T	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.1364C>T	2.37:g.131521009C>T	ENSP00000392700:p.Thr455Met					AMER3_ENST00000321420.4_Missense_Mutation_p.T455M	p.T455M	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1474	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1364C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904974	0.33628	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.48836	0.8;0.8	5.06	4.16	0.48862	.	0.395446	0.21174	N	0.078935	T	0.42314	0.1197	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.60345	0.873	T	0.17107	-1.0380	10	0.42905	T	0.14	.	7.1069	0.25368	0.1737:0.7333:0.0:0.0929	.	455	Q8N944	F123C_HUMAN	M	455	ENSP00000314914:T455M;ENSP00000392700:T455M	ENSP00000314914:T455M	T	+	2	0	FAM123C	131237479	0.508000	0.26154	0.090000	0.20809	0.262000	0.26303	1.041000	0.30291	2.515000	0.84797	0.561000	0.74099	ACG		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		21	46	0	0	0	1	0	21	46					T	131521009	C	T	131521009	3	4	242	1	0	0	0	0	1	0	0	0	5424	536	19	1	1366	1	FAM123C	2	131521009	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	56832482	131521009	111678364	7	28448											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	54	0	0	0	1	0	20	54					A	209113113	G	A	209113113	3	1	242	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	77592104	209113113	34086260	8	28449											
CASR	846	broad.mit.edu	37	chr3	122003874	122003874	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcggggaaacggacttagatCtgaccgtccaggaaacaggt	14	9	1	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	ENST00000490131.1	+	7	3445	c.3073C>A	c.(3073-3075)Ctg>Atg	p.L1025M	CASR_ENST00000498619.1_Missense_Mutation_p.L1035M|CASR_ENST00000296154.5_Missense_Mutation_p.L1025M	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1025					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3103-3105)Ctg>Atg		calcium-sensing receptor	Cinacalcet(DB01012)						60	63	62					3																	122003874		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003874C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3073C>A	3.37:g.122003874C>A	ENSP00000418685:p.Leu1025Met					CASR_ENST00000296154.5_Missense_Mutation_p.L1025M|CASR_ENST00000490131.1_Missense_Mutation_p.L1025M	p.L1035M	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3541	+			1025					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.3103C>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395611	0.01175	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	1.54	0.23209	.	0.832453	0.10736	N	0.640015	T	0.75598	0.3871	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.60260	-0.7298	10	0.30854	T	0.27	.	4.5351	0.12024	0.2742:0.5116:0.0:0.2142	.	1035;1025	E7ENE0;P41180	.;CASR_HUMAN	M	1025;1035;1025	ENSP00000418685:L1025M;ENSP00000420194:L1035M;ENSP00000296154:L1025M	ENSP00000296154:L1025M	L	+	1	2	CASR	123486564	0.001000	0.12720	0.001000	0.08648	0.018000	0.09664	0.225000	0.17757	0.058000	0.16222	0.561000	0.74099	CTG		0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		22	57	1	0	1.2644e-06	1	1.47838e-06	22	57					A	122003874	C	A	122003874	3	1	242	1	0	0	0	0	1	0	0	0	2682	912	32	4	3125	4	CASR	3	122003874	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		122003874	76018556	9	28450											
PDGFRA	5156	broad.mit.edu	37	chr4	55152040	55152040	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctggctgctcgcaacgtCctcctggcacaaggaaaaat	10	12	1	0	rs2228230	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:55152040C>T	ENST00000257290.5	+	18	2803	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	FIP1L1_ENST00000507166.1_Silent_p.V584V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	824	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V824V(15)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTCGCAACGTCCTCCTGGCAC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C|||	1204	0.240415	0.3449	0.2767	5008	,	,		22168	0.1726		0.1451	False		,,,				2504	0.2413				Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		15	Substitution - coding silent(15)	p.V824V(15)	soft_tissue(11)|central_nervous_system(3)|endometrium(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2470-2472)gtC>gtT		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	C		1381,3025	455.5+/-351.0	211,959,1033	186	168	174		2472	2.4	1	4	dbSNP_98	174	1198,7402	241.0+/-271.5	95,1008,3197	no	coding-synonymous	PDGFRA	NM_006206.4		306,1967,4230	TT,TC,CC		13.9302,31.3436,19.8293		824/1090	55152040	2579,10427	2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152040C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2472C>T	4.37:g.55152040C>T		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Silent_p.V584V	p.V824V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2803	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		824			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2472C>T	CCDS3495.1																																																																																				0.498	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		7	128	0	0	0	1	0	7	128					T	55152040	C	T	55152040	2	4	242	1	0	0	0	0	0	0	0	1	11661	842	30	2		2	PDGFRA	4	55152040	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		55152040	136002236	10	28451											
FRAS1	80144	broad.mit.edu	37	chr4	79428637	79428637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccgggaatggcatgaaTctttctcactagtccttggc	10	10	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	ENST00000264895.6	+	62	9819	c.9379T>C	c.(9379-9381)Tct>Cct	p.S3127P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3123	Calx-beta 5.				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						ATGGCATGAATCTTTCTCACT	0.488																																						ENST00000264895.6																			0				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						c.(9379-9381)Tct>Cct		Fraser syndrome 1							106	103	104					4																	79428637		2029	4200	6229	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79428637T>C	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.9379T>C	4.37:g.79428637T>C	ENSP00000264895:p.Ser3127Pro						p.S3127P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			62	9819	+			3122			Calx-beta 5.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9379T>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.2|27.2	4.807411|4.807411	0.90623|0.90623	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.30981	.|1.51	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.131349	.|0.52532	.|D	.|0.000062	T|T	0.52837|0.52837	0.1759|0.1759	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.994	.|D;D	.|0.78314	.|0.991;0.928	T|T	0.55860|0.55860	-0.8074|-0.8074	5|10	.|0.66056	.|D	.|0.02	.|.	15.1808|15.1808	0.72956|0.72956	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3126;3127	.|Q86XX4-2;E9PHH6	.|.;.	T|P	1355|3127	.|ENSP00000264895:S3127P	.|ENSP00000264895:S3127P	I|S	+|+	2|1	0|0	FRAS1|FRAS1	79647661|79647661	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.992000|0.992000	0.81027|0.81027	7.865000|7.865000	0.87049|0.87049	2.064000|2.064000	0.61679|0.61679	0.482000|0.482000	0.46254|0.46254	ATC|TCT		0.488	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	33	0	0	0	1	0	4	33					C	79428637	T	C	79428637	3	2	242	1	0	0	0	0	1	0	0	0	6042	1435	50	3	9700	3	FRAS1	4	79428637	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	24276597	79428637	111725639	11	28452											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750527	140750527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagaacctggatggcaGtaggtacccagagctagtac	14	8	0	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	ENST00000576222.1	+	1	697	c.566G>T	c.(565-567)aGt>aTt	p.S189I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	189	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(565-567)aGt>aTt									121	121	121					5																	140750527		2037	4211	6248	SO:0001583	missense	0							g.chr5:140750527G>T	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.566G>T	5.37:g.140750527G>T	ENSP00000461862:p.Ser189Ile					PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S189I	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	697	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.566G>T	CCDS58980.1																																																																																				0.557	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		34	127	1	0	1.74807e-11	1	2.07583e-11	34	127					T	140750527	G	T	140750527	3	4	242	1	0	0	0	0	1	0	0	0	11564	1029	36	4	568	4	PCDHGB3	5	140750527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		140750527	40164733	12	28453											
ZNF300	91975	broad.mit.edu	37	chr5	150275093	150275093	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtctttccccagtatgaaTcctctgatgtaaaacaaggt	9	9	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	ENST00000274599.5	-	6	2128	c.1708A>T	c.(1708-1710)Att>Ttt	p.I570F	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.I586F|ZNF300_ENST00000394226.2_Missense_Mutation_p.I570F|ZNF300_ENST00000418587.2_Missense_Mutation_p.I534F	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	570					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)			CCAGTATGAATCCTCTGATGT	0.438																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(1756-1758)Att>Ttt		zinc finger protein 300							95	97	96					5																	150275093		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275093T>A	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.1708A>T	5.37:g.150275093T>A	ENSP00000274599:p.Ile570Phe					ZNF300_ENST00000418587.2_Missense_Mutation_p.I534F|ZNF300_ENST00000274599.5_Missense_Mutation_p.I570F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.I570F	p.I586F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	2183	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	570					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1756A>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302161	0.60195	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	L	0.48362	1.52	0.28757	N	0.901122	D	0.76494	0.999	D	0.74674	0.984	T	0.02632	-1.1131	9	0.72032	D	0.01	.	7.533	0.27693	0.0:0.0:0.2189:0.7811	.	570	Q96RE9	ZN300_HUMAN	F	586;570;534;570	ENSP00000397178:I586F;ENSP00000274599:I570F;ENSP00000392593:I534F;ENSP00000377773:I570F	ENSP00000274599:I570F	I	-	1	0	ZNF300	150255286	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.597000	0.24059	1.785000	0.52413	0.482000	0.46254	ATT		0.438	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		20	60	0	0	0	1	0	20	60					A	150275093	T	A	150275093	3	1	242	1	0	0	0	0	1	0	0	0	17828	1435	50	5	110	5	ZNF300	5	150275093	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	9524566	150275093	30640167	13	28454											
RREB1	6239	broad.mit.edu	37	chr6	7229937	7229937	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgcccagcaggcttccccGggctgtatcagccccagcct	10	18	1	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:7229937G>T	ENST00000349384.6	+	10	1919	c.1605G>T	c.(1603-1605)ccG>ccT	p.P535P	RREB1_ENST00000334984.6_Silent_p.P535P|RREB1_ENST00000379938.2_Silent_p.P535P|RREB1_ENST00000379933.3_Silent_p.P535P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	535	Pro-rich.				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)				AGGCTTCCCCGGGCTGTATCA	0.682																																						ENST00000379938.2																			0				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						c.(1603-1605)ccG>ccT		ras responsive element binding protein 1							24	31	29					6																	7229937		2188	4281	6469	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229937G>T	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.1605G>T	6.37:g.7229937G>T						RREB1_ENST00000349384.6_Silent_p.P535P|RREB1_ENST00000334984.6_Silent_p.P535P|RREB1_ENST00000379933.3_Silent_p.P535P	p.P535P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2142	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	535			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1605G>T	CCDS34336.1																																																																																				0.682	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			31	103	1	0	5.60225e-13	1	6.75827e-13	31	103					T	7229937	G	T	7229937	2	4	242	1	0	0	0	0	0	0	0	1	13679	1103	39	4		4	RREB1	6	7229937	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08		7229937	163885130	14	28455											
TIGD5	84948	broad.mit.edu	37	chr8	144681130	144681130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgcctgcagcagaagGccgtgctgctggtggcccac	15	13	0	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr8:144681130G>T	ENST00000504548.2	+	1	1057	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A304S|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	353	DDE 1.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCAGCAGAAGGCCGTGCTGCT	0.701																																						ENST00000321385.3																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(910-912)Gcc>Tcc		tigger transposable element derived 5							5	7	6					8																	144681130		2054	4136	6190	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681130G>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1057G>T	8.37:g.144681130G>T	ENSP00000421489:p.Ala353Ser					TIGD5_ENST00000504548.2_Missense_Mutation_p.A353S	p.A304S			E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1057	+	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)		353					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.910G>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004859	0.74932	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.44083	0.93;0.93	4.61	4.61	0.57282	.	0.000000	0.56097	U	0.000033	T	0.62660	0.2446	M	0.70595	2.14	0.33725	D	0.617439	D	0.76494	0.999	D	0.85130	0.997	T	0.70454	-0.4867	10	0.28530	T	0.3	.	16.4398	0.83896	0.0:0.0:1.0:0.0	.	304	Q53EQ6	TIGD5_HUMAN	S	353;304	ENSP00000421489:A353S;ENSP00000315906:A304S	ENSP00000315906:A304S	A	+	1	0	TIGD5	144752273	1.000000	0.71417	0.988000	0.46212	0.777000	0.43975	4.049000	0.57397	2.103000	0.63969	0.561000	0.74099	GCC		0.701	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		6	13	1	0	1	1	1	6	13					T	144681130	G	T	144681130	3	4	242	1	0	0	0	0	1	0	0	0	15896	1203	42	4	1059	4	TIGD5	8	144681130	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		144681130	1682892	15	28456											
C9orf79	286234	broad.mit.edu	37	chr9	90501078	90501078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagaggacacagtctgTcatccccactggaaaggagt	12	11	2	1	rs565528990		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr9:90501078T>C	ENST00000325643.5	+	4	1742	c.1676T>C	c.(1675-1677)gTc>gCc	p.V559A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	559					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACACAGTCTGTCATCCCCACT	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		18295	0.001		0.0	False		,,,				2504	0.0					ENST00000325643.5																			0											c.(1675-1677)gTc>gCc		SPATA31 subfamily E, member 1							107	113	111					9																	90501078		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90501078T>C	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.1676T>C	9.37:g.90501078T>C	ENSP00000322640:p.Val559Ala						p.V559A	NM_178828.4	NP_849150.3					4	1742	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.1676T>C	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	t	4.736	0.136916	0.09032	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06933	3.24	2.51	-1.45	0.08828	.	2.031220	0.02285	N	0.069799	T	0.05868	0.0153	L	0.29908	0.895	0.09310	N	1	B;P	0.36171	0.274;0.541	B;B	0.34301	0.096;0.179	T	0.25502	-1.0130	10	0.18710	T	0.47	.	2.9124	0.05742	0.0:0.3049:0.2461:0.449	.	559;211	Q6ZUB1;Q8NA33	CI079_HUMAN;.	A	559;211	ENSP00000322640:V559A	ENSP00000322640:V559A	V	+	2	0	C9orf79	89690898	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.168000	0.09925	-0.329000	0.08527	0.416000	0.27883	GTC		0.552	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		10	162	0	0	0	1	0	10	162					C	90501078	T	C	90501078	3	2	242	1	0	0	0	0	1	0	0	0	2497	1667	58	3	1690	3	C9orf79	9	90501078	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08		90501078	50712353	16	28457											
TUBB8	347688	broad.mit.edu	37	chr10	93136	93136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatccatgccctcgcccGtgtaccagtggaggaaggcc	11	15	1	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:93136G>A	ENST00000309812.4	-	4	1258	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	TUBB8_ENST00000447903.2_Missense_Mutation_p.T327M|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	399					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCCCTCGCCCGTGTACCAGTG	0.532																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(979-981)aCg>aTg		tubulin, beta 8 class VIII							44	46	45					10																	93136		2200	4288	6488	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93136G>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1196C>T	10.37:g.93136G>A	ENSP00000311042:p.Thr399Met					TUBB8_ENST00000309812.4_Missense_Mutation_p.T399M	p.T327M			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1295	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	399					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.980C>T	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078080	0.36662	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70631	-0.5	.	.	.	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.084489	0.44902	N	0.000407	T	0.82231	0.4992	M	0.90705	3.14	0.36314	D	0.85781	D;D	0.89917	0.995;1.0	P;D	0.68943	0.535;0.961	T	0.82037	-0.0656	9	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	362;399	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	M	327;365;362;399	ENSP00000403895:T327M	ENSP00000272035:T365M	T	-	2	0	RP11-631M21.2	83136	1.000000	0.71417	0.591000	0.28745	0.595000	0.36748	6.543000	0.73874	0.119000	0.18210	0.121000	0.15741	ACG		0.532	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		13	94	0	0	0	1	0	13	94					A	93136	G	A	93136	3	1	242	1	0	0	0	0	1	0	0	0	16758	1145	40	1	142	1	TUBB8	10	93136	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		93136	135441611	17	28458											
MLL	4297	broad.mit.edu	37	chr11	118367049	118367049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacaatagacagtgtgcGttatgtttgacttatggtga	12	4	0	4	rs147764171	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr11:118367049G>A	ENST00000389506.5	+	20	5622	c.5622G>A	c.(5620-5622)gcG>gcA	p.A1874A	KMT2A_ENST00000534358.1_Silent_p.A1877A|KMT2A_ENST00000354520.4_Silent_p.A1836A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1874					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)										GACAGTGTGCGTTATGTTTGA	0.438													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		16325	0.001		0.001	False		,,,				2504	0.0					ENST00000534358.1																			0											c.(5629-5631)gcG>gcA		lysine (K)-specific methyltransferase 2A		G	,	4,4396	8.1+/-20.4	0,4,2196	192	174	180		5631,5622	-6.6	0	11	dbSNP_134	180	15,8577	10.5+/-38.8	0,15,4281	no	coding-synonymous,coding-synonymous	MLL	NM_001197104.1,NM_005933.3	,	0,19,6477	AA,AG,GG		0.1746,0.0909,0.1462	,	1877/3973,1874/3970	118367049	19,12973	2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118367049G>A	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.5622G>A	11.37:g.118367049G>A						KMT2A_ENST00000389506.5_Silent_p.A1874A|KMT2A_ENST00000354520.4_Silent_p.A1836A	p.A1877A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					20	5654	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.5631G>A	CCDS31686.1																																																																																				0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	92	0	0	0	1	0	5	92					A	118367049	G	A	118367049	2	1	242	1	0	0	0	0	0	0	0	1	9620	1132	40	1		1	MLL	11	118367049	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08		118367049	16639467	18	28459											
OCA2	4948	broad.mit.edu	37	chr15	28171297	28171297	+	Frame_Shift_Del	DEL	A	A	-													atcagaacaaagagcgctgcAaaaaacagaagggttgccca							TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	ENST00000354638.3	-	19	2210	c.2055delT	c.(2053-2055)tttfs	p.F685fs	OCA2_ENST00000353809.5_Frame_Shift_Del_p.F661fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	685					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85	GRCh37	CD051775	OCA2	D		c.(2053-2055)ttfs		oculocutaneous albinism II				12,4252		6,0,2126	105	110	108			5.8	1	15		109	13,8241		6,1,4120	no	frameshift	OCA2	NM_000275.2		12,1,6246	A1A1,A1R,RR		0.1575,0.2814,0.1997			28171297	25,12493	2203	4300	6503	SO:0001589	frameshift_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28171297delA		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2055delT	15.37:g.28171297delA	ENSP00000346659:p.Phe685fs					OCA2_ENST00000353809.5_Frame_Shift_Del_p.F661fs	p.F685fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	19	2210	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	685					Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Del	DEL	ENST00000354638.3	37	c.2055delT	CCDS10020.1																																																																																				0.363	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		19	64						19	64	---	---	---	---	-	28171297	A	-	28171297	7	5	242	1	0	1	0	1	0	0	0	0	10815	127	5	0	485	0	OCA2	15	28171297	Frame_Shift_Del	DEL	A	TCGA-HT-7479-01A-11D-2024-08		28171297	74360095	19	28460											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	27	0	0	0	1	0	31	27					T	7578413	C	T	7578413	3	4	242	1	0	0	0	0	1	0	0	0	16378	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		7578413	73616797	20	28461											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274491	39274491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctcacagcagctggggCggcagcaggtctcctggcag	16	12	2	0	rs113376601	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39274491C>T	ENST00000391413.2	-	1	115	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627													c|||	514	0.102636	0.1815	0.121	5008	,	,		17390	0.1508		0.0169	False		,,,				2504	0.0215					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(76-78)cGc>cAc		keratin associated protein 4-11		T	HIS/ARG	207,1177		15,177,500	20	26	24		77	-4.5	0	17	dbSNP_132	24	48,3134		1,46,1544	yes	missense	KRTAP4-11	NM_033059.3	29	16,223,2044	TT,TC,CC		1.5085,14.9566,5.5848	benign	26/196	39274491	255,4311	692	1591	2283	SO:0001583	missense	653240					keratin filament		g.chr17:39274491C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.77G>A	17.37:g.39274491C>T	ENSP00000375232:p.Arg26His						p.R26H	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	115	-		Breast(137;0.000496)	26			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.77G>A	CCDS45675.1	234	0.10714285714285714	86	0.17479674796747968	36	0.09944751381215469	98	0.17132867132867133	14	0.018469656992084433	.	3.849	-0.032146	0.07543	0.149566	0.015085	ENSG00000212721	ENST00000391413	T	0.00622	6.16	3.98	-4.52	0.03472	.	.	.	.	.	T	0.00012	0.0000	M	0.66560	2.04	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.16571	-1.0398	8	0.45353	T	0.12	.	11.4199	0.49976	0.0:0.4348:0.0:0.5652	.	26	Q9BYQ6	KR411_HUMAN	H	26	ENSP00000375232:R26H	ENSP00000375232:R26H	R	-	2	0	KRTAP4-11	36528017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.694000	0.00057	-1.751000	0.01326	-2.283000	0.00269	CGC		0.627	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	47	0	0	0	1	0	4	47					T	39274491	C	T	39274491	3	4	242	1	0	0	0	0	1	0	0	0	8549	768	27	1	514	1	KRTAP4-11	17	39274491	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	31696078	39274491	41920719	21	28462											
KRT38	8687	broad.mit.edu	37	chr17	39596991	39596991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggctggggcggcccagGggagtggaccccacacggac	18	13	0	1	rs267604868		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	ENST00000246646.3	-	1	182	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	61	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(181-183)ccC>ccT		keratin 38							43	46	45					17																	39596991		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39596991G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.183C>T	17.37:g.39596991G>A							p.P61P	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			1	182	-		Breast(137;0.000496)	61			Head.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.183C>T	CCDS11392.1																																																																																				0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		6	78	0	0	0	1	0	6	78					A	39596991	G	A	39596991	2	1	242	1	0	0	0	0	0	0	0	1	8475	1219	43	2		2	KRT38	17	39596991	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08	322500	39596991	41598219	22	28463											
TTYH2	94015	broad.mit.edu	37	chr17	72233513	72233513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctttgctgcccggggCgattacctgcagaccctgaa	12	12	1	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	ENST00000269346.4	+	4	569	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TTYH2_ENST00000529107.1_Silent_p.G144G	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	165						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGCCCGGGGCGATTACCTGC	0.597																																						ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(493-495)ggC>ggT		tweety family member 2							86	84	84					17																	72233513		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72233513C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.495C>T	17.37:g.72233513C>T						TTYH2_ENST00000529107.1_Silent_p.G144G	p.G165G	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			4	569	+			165					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.495C>T	CCDS32717.1																																																																																				0.597	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			19	61	0	0	0	1	0	19	61					T	72233513	C	T	72233513	2	4	242	1	0	0	0	0	0	0	0	1	16737	755	27	1		1	TTYH2	17	72233513	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08	32636522	72233513	8961697	23	28464											
OTOP2	92736	broad.mit.edu	37	chr17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caacctggccatctggatggCggccgtggtggatgaatctg	15	10	2	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	ENST00000580223.1	+	4	587	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000331427.4_Missense_Mutation_p.A186E			Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral component of membrane (GO:0016021)		p.A186V(1)		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)					ATCTGGATGGCGGCCGTGGTG	0.577																																						ENST00000331427.4																			1	Substitution - Missense(1)	p.A186V(1)	lung(1)	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						c.(556-558)gCg>gAg		otopetrin 2							87	69	75					17																	72923807		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72923807C>A	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.557C>A	17.37:g.72923807C>A	ENSP00000463837:p.Ala186Glu					OTOP2_ENST00000580223.1_Missense_Mutation_p.A186E	p.A186E	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			5	649	+	all_lung(278;0.172)|Lung NSC(278;0.207)		186						Missense_Mutation	SNP	ENST00000580223.1	37	c.557C>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001263	0.54254	.	.	ENSG00000183034	ENST00000331427	T	0.21191	2.02	5.1	5.1	0.69264	.	0.417107	0.28268	N	0.015978	T	0.37019	0.0988	L	0.46157	1.445	0.44862	D	0.997875	D	0.59357	0.985	P	0.60236	0.871	T	0.01298	-1.1392	10	0.30854	T	0.27	-9.1898	18.7118	0.91659	0.0:1.0:0.0:0.0	.	186	Q7RTS6	OTOP2_HUMAN	E	186	ENSP00000332528:A186E	ENSP00000332528:A186E	A	+	2	0	OTOP2	70435402	0.995000	0.38212	0.958000	0.39756	0.109000	0.19521	3.237000	0.51344	2.655000	0.90218	0.462000	0.41574	GCG		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		4	43	1	0	0.00909568	1	0.009601	4	43					A	72923807	C	A	72923807	3	1	242	1	0	0	0	0	1	0	0	0	11306	768	27	4	571	4	OTOP2	17	72923807	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	690294	72923807	8271403	24	28465											
PLVAP	83483	broad.mit.edu	37	chr19	17487967	17487967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagaccatgaagagcAcgagccccaggatgatgagg	13	10	0	5			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	ENST00000252590.4	-	1	192	c.131T>C	c.(130-132)gTg>gCg	p.V44A		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	44					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						CATGAAGAGCACGAGCCCCAG	0.612																																						ENST00000252590.4																			0				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						c.(130-132)gTg>gCg		plasmalemma vesicle associated protein							88	79	82					19																	17487967		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487967A>G	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.131T>C	19.37:g.17487967A>G	ENSP00000252590:p.Val44Ala						p.V44A	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	192	-			44					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.131T>C	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840708	0.71488	.	.	ENSG00000130300	ENST00000252590	T	0.33865	1.39	4.77	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.46946	0.1419	L	0.36672	1.1	0.36998	D	0.895115	D	0.89917	1.0	D	0.87578	0.998	T	0.53287	-0.8460	10	0.87932	D	0	-67.9341	9.786	0.40677	0.8261:0.1739:0.0:0.0	.	44	Q9BX97	PLVAP_HUMAN	A	44	ENSP00000252590:V44A	ENSP00000252590:V44A	V	-	2	0	PLVAP	17348967	1.000000	0.71417	0.890000	0.34922	0.822000	0.46500	7.247000	0.78257	0.742000	0.32697	0.459000	0.35465	GTG		0.612	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		19	53	0	0	0	1	0	19	53					G	17487967	A	G	17487967	3	3	242	1	0	0	0	0	1	0	0	0	12116	159	6	3	1221	3	PLVAP	19	17487967	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		17487967	41641016	25	28466											
ZNF320	162967	broad.mit.edu	37	chr19	53384195	53384195	+	Frame_Shift_Del	DEL	C	C	-													atgcgaggtacgcttttgtaCtaaaaaccttgccacattca							TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	ENST00000595635.1	-	8	1685	c.1184delG	c.(1183-1185)agtfs	p.S395fs	ZNF320_ENST00000391781.2_Frame_Shift_Del_p.S395fs|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	395					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(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(1183-1185)atfs		zinc finger protein 320							91	86	88					19																	53384195		2203	4300	6503	SO:0001589	frameshift_variant	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384195delC	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1184delG	19.37:g.53384195delC	ENSP00000473091:p.Ser395fs					ZNF320_ENST00000391781.2_Frame_Shift_Del_p.S395fs|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	p.S395fs	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	1685	-			395					Q8NDR6	Frame_Shift_Del	DEL	ENST00000595635.1	37	c.1184delG	CCDS33095.1																																																																																				0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		38	104						38	104	---	---	---	---	-	53384195	C	-	53384195	7	5	242	1	0	1	0	1	0	0	0	0	17836	565	20	0	349	0	ZNF320	19	53384195	Frame_Shift_Del	DEL	C	TCGA-HT-7479-01A-11D-2024-08	35896228	53384195	5744788	26	28467											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032549	46032549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcccatctgctgtgtgCctgtctgctctggggcttcc	12	14	3	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr21:46032549C>T	ENST00000334662.2	+	1	554	c.532C>T	c.(532-534)Cct>Tct	p.P178S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	178	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						CTGCTGTGTGCCTGTCTGCTC	0.622																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(532-534)Cct>Tct		keratin associated protein 10-8							211	204	206					21																	46032549		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032549C>T	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.532C>T	21.37:g.46032549C>T	ENSP00000335565:p.Pro178Ser					TSPEAR_ENST00000323084.4_Intron	p.P178S	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	554	+			178			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.532C>T	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	1.350	-0.591699	0.03799	.	.	ENSG00000187766	ENST00000334662	T	0.04119	3.7	2.21	1.27	0.21489	.	.	.	.	.	T	0.03959	0.0111	L	0.29908	0.895	0.24009	N	0.996182	P	0.36577	0.558	B	0.37144	0.242	T	0.42699	-0.9436	9	0.36615	T	0.2	.	6.0544	0.19802	0.0:0.8189:0.0:0.1811	.	178	P60410	KR108_HUMAN	S	178	ENSP00000335565:P178S	ENSP00000335565:P178S	P	+	1	0	KRTAP10-8	44856977	0.594000	0.26849	0.008000	0.14137	0.002000	0.02628	2.204000	0.42761	1.156000	0.42514	0.467000	0.42956	CCT		0.622	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		10	246	0	0	0	1	0	10	246					T	46032549	C	T	46032549	3	4	242	1	0	0	0	0	1	0	0	0	8515	739	26	2	534	2	KRTAP10-8	21	46032549	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		46032549	2097346	27	28468											
ASPHD2	57168	broad.mit.edu	37	chr22	26829961	26829961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcaaccagaagctgtAccacaacctgcaggagtacg	11	13	1	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	ENST00000215906.5	+	2	818	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	127					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAGAAGCTGTACCACAACCTG	0.652																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(379-381)tAc>tGc		aspartate beta-hydroxylase domain containing 2							49	43	45					22																	26829961		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829961A>G	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.380A>G	22.37:g.26829961A>G	ENSP00000215906:p.Tyr127Cys						p.Y127C	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	818	+			127					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.380A>G	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824512	0.71143	.	.	ENSG00000128203	ENST00000215906	T	0.48522	0.81	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.65894	-0.6057	10	0.66056	D	0.02	-40.6873	13.5667	0.61822	1.0:0.0:0.0:0.0	.	127	Q6ICH7	ASPH2_HUMAN	C	127	ENSP00000215906:Y127C	ENSP00000215906:Y127C	Y	+	2	0	ASPHD2	25159961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.292000	0.89930	1.981000	0.57761	0.460000	0.39030	TAC		0.652	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		12	39	0	0	0	1	0	12	39					G	26829961	A	G	26829961	3	3	242	1	0	0	0	0	1	0	0	0	1055	391	14	3	382	3	ASPHD2	22	26829961	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		26829961	24474605	28	28469											
FAM47A	158724	broad.mit.edu	37	chrX	34149060	34149060	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttttcttcacccgggcctCacaacgatcccatacgtcct	6	16	3	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	ENST00000346193.3	-	1	1387	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	446										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCCGGGCCTCACAACGATCC	0.557																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1336-1338)Gag>Cag		family with sequence similarity 47, member A							44	46	45					X																	34149060		2070	4217	6287	SO:0001583	missense	158724							g.chrX:34149060C>G	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1336G>C	X.37:g.34149060C>G	ENSP00000345029:p.Glu446Gln						p.E446Q	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1387	-			446					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1336G>C	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637375	0.47049	.	.	ENSG00000185448	ENST00000346193	T	0.20200	2.09	0.866	-0.49	0.12049	.	.	.	.	.	T	0.22704	0.0548	L	0.53249	1.67	0.21064	N	0.999795	P	0.52316	0.952	P	0.50659	0.647	T	0.21415	-1.0246	8	0.17369	T	0.5	.	.	.	.	.	446	Q5JRC9	FA47A_HUMAN	Q	446	ENSP00000345029:E446Q	ENSP00000345029:E446Q	E	-	1	0	FAM47A	34058981	0.000000	0.05858	0.143000	0.22291	0.611000	0.37282	-0.417000	0.07088	-0.200000	0.10300	0.287000	0.19450	GAG		0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	19	0	0	0	1	0	17	19					G	34149060	C	G	34149060	3	3	242	1	0	0	0	0	1	0	0	0	5569	835	29	4	1043	4	FAM47A	23	34149060	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		34149060	121121500	29	28470											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagtctcatctttcttcaTggagctactgctctgctcct	7	12	5	1	rs200282759	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110	112	112					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		4	82	0	0	0	1	0	4	82					C	12907458	T	C	12907458	3	2	243	1	0	0	0	0	1	0	0	0	7263	1464	51	3	198	3	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		12907458	236343163	1	28471											
PEF1	553115	broad.mit.edu	37	chr1	32101082	32101082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagggtagtagctaccCggaggggctcctggtgcttg	17	10	0	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:32101082C>T	ENST00000373703.4	-	2	88	c.66G>A	c.(64-66)ccG>ccA	p.P22P	PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Silent_p.P22P	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	22	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AGTAGCTACCCGGAGGGGCTC	0.597																																						ENST00000373703.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7						c.(64-66)ccG>ccA		penta-EF-hand domain containing 1							21	22	22					1																	32101082		2198	4292	6490	SO:0001819	synonymous_variant	553115				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity	g.chr1:32101082C>T		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"EF-hand domain containing"	30009	protein-coding gene	gene with protein product	"peflin"	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.66G>A	1.37:g.32101082C>T						PEF1_ENST00000440872.2_Silent_p.P22P|PEF1_ENST00000492061.1_5'UTR	p.P22P	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0546)	2	88	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)	22			9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.			Silent	SNP	ENST00000373703.4	37	c.66G>A	CCDS345.1																																																																																				0.597	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		3	12	0	0	0	1	0	3	12					T	32101082	C	T	32101082	2	4	243	1	0	0	0	0	0	0	0	1	11718	639	23	1		1	PEF1	1	32101082	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	19193624	32101082	217149539	2	28472											
NPR1	4881	broad.mit.edu	37	chr1	153655965	153655965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaatgtggctttgacaaCgaagacccagcatgcaacca	8	13	0	2	rs142090901	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:153655965C>T	ENST00000368680.3	+	6	1849	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	459					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)	p.N459N(1)		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)	GCTTTGACAACGAAGACCCAG	0.587																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			1	Substitution - coding silent(1)	p.N459N(1)	prostate(1)	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						c.(1375-1377)aaC>aaT		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						124	117	119					1																	153655965		2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153655965C>T	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.1377C>T	1.37:g.153655965C>T							p.N459N	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1849	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		459					B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1377C>T	CCDS1051.1																																																																																				0.587	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		25	110	0	0	0	1	0	25	110					T	153655965	C	T	153655965	2	4	243	1	0	0	0	0	0	0	0	1	10594	535	19	1		1	NPR1	1	153655965	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	121554883	153655965	95594656	3	28473											
CD244	51744	broad.mit.edu	37	chr1	160811091	160811091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtatatgtgtgagtGccattaatgtcaacctcctc	9	9	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:160811091G>A	ENST00000368033.3	-	3	661	c.579C>T	c.(577-579)ggC>ggT	p.G193G	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Silent_p.G188G|CD244_ENST00000368032.2_Silent_p.G188G			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	193	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTGAGTGCCATTAATGT	0.517																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(562-564)ggC>ggT		CD244 molecule, natural killer cell receptor 2B4							251	194	213					1																	160811091		2203	4300	6503	SO:0001819	synonymous_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811091G>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.579C>T	1.37:g.160811091G>A						CD244_ENST00000368032.2_Silent_p.G188G|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.G193G	p.G188G	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	741	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		193			Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	ENST00000368033.3	37	c.564C>T	CCDS53399.1																																																																																				0.517	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		28	123	0	0	0	1	0	28	123					A	160811091	G	A	160811091	2	1	243	1	0	0	0	0	0	0	0	1	2987	1306	46	2		2	CD244	1	160811091	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	7155126	160811091	88439530	4	28474											
SLC26A9	115019	broad.mit.edu	37	chr1	205897099	205897099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagccaggttgatgacgtaGctcacgatggctagggagaa	14	7	1	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:205897099G>A	ENST00000367135.3	-	9	1145	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	SLC26A9_ENST00000340781.4_Silent_p.S344S|SLC26A9_ENST00000367134.2_Silent_p.S344S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	344					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGATGACGTAGCTCACGATGG	0.632																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1030-1032)agC>agT		solute carrier family 26 (anion exchanger), member 9							96	81	86					1																	205897099		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897099G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1032C>T	1.37:g.205897099G>A						SLC26A9_ENST00000340781.4_Silent_p.S344S|SLC26A9_ENST00000367134.2_Silent_p.S344S	p.S344S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		9	1145	-	Breast(84;0.201)		344					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1032C>T	CCDS30990.1																																																																																				0.632	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		10	73	0	0	0	1	0	10	73					A	205897099	G	A	205897099	2	1	243	1	0	0	0	0	0	0	0	1	14524	962	34	2		2	SLC26A9	1	205897099	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	45086008	205897099	43353522	5	28475											
TMEM17	200728	broad.mit.edu	37	chr2	62733243	62733243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtttcccagccgctggcGcaccggatccggcagctcca	12	16	0	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:62733243G>A	ENST00000335390.5	-	1	233	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	8					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGCCGCTGGCGCACCGGATCC	0.672																																						ENST00000335390.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(22-24)Cgc>Tgc		transmembrane protein 17							23	26	25					2																	62733243		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62733243G>A		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.22C>T	2.37:g.62733243G>A	ENSP00000335094:p.Arg8Cys						p.R8C	NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		1	233	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		8					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.22C>T	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318092	0.81469	.	.	ENSG00000186889	ENST00000335390	T	0.59224	0.28	4.82	4.82	0.62117	.	0.056069	0.64402	D	0.000001	T	0.66187	0.2764	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.69450	-0.5142	10	0.87932	D	0	-7.035	14.8057	0.69952	0.0:0.0:1.0:0.0	.	8	Q86X19	TMM17_HUMAN	C	8	ENSP00000335094:R8C	ENSP00000335094:R8C	R	-	1	0	TMEM17	62586747	1.000000	0.71417	0.983000	0.44433	0.726000	0.41606	2.473000	0.45145	2.525000	0.85131	0.456000	0.33151	CGC		0.672	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		3	22	0	0	0	1	0	3	22					A	62733243	G	A	62733243	3	1	243	1	0	0	0	0	1	0	0	0	16082	1087	38	1	590	1	TMEM17	2	62733243	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		62733243	180466130	6	28476											
AFTPH	54812	broad.mit.edu	37	chr2	64779134	64779134	+	Frame_Shift_Del	DEL	C	C	-													agagctgcaatggtgaaaagCctccttgtctggagattcta							TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:64779134delC	ENST00000422803.1	+	2	840	c.526delC	c.(526-528)cctfs	p.P177fs	AFTPH_ENST00000238855.7_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000409933.1_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	177					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGTGAAAAGCCTCCTTGTCT	0.403																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(526-528)ctfs		aftiphilin							78	75	76					2																	64779134		2203	4300	6503	SO:0001589	frameshift_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779134delC	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.526delC	2.37:g.64779134delC	ENSP00000397726:p.Pro177fs					AFTPH_ENST00000409933.1_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238855.7_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.P177fs	p.P177fs			Q6ULP2	AFTIN_HUMAN			2	840	+			177					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Frame_Shift_Del	DEL	ENST00000422803.1	37	c.526delC																																																																																					0.403	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		18	84						18	84	---	---	---	---	-	64779134	C	-	64779134	7	5	243	1	0	1	0	1	0	0	0	0	364	739	26	0	528	0	AFTPH	2	64779134	Frame_Shift_Del	DEL	C	TCGA-HT-7480-01A-11D-2086-08	2045891	64779134	178420239	7	28477											
MCM6	4175	broad.mit.edu	37	chr2	136626216	136626216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaatcttgatttatttgtatCcagtaagaatctcctcctgt	5	8	2	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:136626216C>A	ENST00000264156.2	-	4	640	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	194					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTATTTGTATCCAGTAAGAAT	0.373																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(580-582)Gat>Tat		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						109	113	112					2																	136626216		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136626216C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.580G>T	2.37:g.136626216C>A	ENSP00000264156:p.Asp194Tyr						p.D194Y	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	4	640	-			194					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.580G>T	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995369	0.74703	.	.	ENSG00000076003	ENST00000264156	T	0.04317	3.65	5.82	4.95	0.65309	Nucleic acid-binding, OB-fold-like (1);	0.084311	0.85682	D	0.000000	T	0.27731	0.0682	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.23762	-1.0179	10	0.56958	D	0.05	-24.4536	15.2302	0.73381	0.0:0.9327:0.0:0.0673	.	194	Q14566	MCM6_HUMAN	Y	194	ENSP00000264156:D194Y	ENSP00000264156:D194Y	D	-	1	0	MCM6	136342686	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	5.904000	0.69886	1.483000	0.48342	-0.232000	0.12228	GAT		0.373	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	120	1	0	0.0215528	1	0.0220018	5	120					A	136626216	C	A	136626216	3	1	243	1	0	0	0	0	1	0	0	0	9391	855	30	4	1941	4	MCM6	2	136626216	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	71847082	136626216	106573157	8	28478											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	50	0	0	0	1	0	36	50					T	209113112	C	T	209113112	3	4	243	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	72486896	209113112	34086261	9	28479											
TLR9	54106	broad.mit.edu	37	chr3	52255381	52255381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctggcggcagaggcgctggCgcagccgcacgtagcgggag	19	12	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:52255381C>A	ENST00000360658.2	-	2	3584	c.2951G>T	c.(2950-2952)cGc>cTc	p.R984L	TLR9_ENST00000494383.1_Silent_p.A1137A|TLR9_ENST00000597542.1_Missense_Mutation_p.R1008L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	984	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|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-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|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 JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|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)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GAGGCGCTGGCGCAGCCGCAC	0.706																																						ENST00000597542.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(3022-3024)cGc>cTc		toll-like receptor 9	Chloroquine(DB00608)						27	30	29					3																	52255381		2201	4297	6498	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52255381C>A	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2951G>T	3.37:g.52255381C>A	ENSP00000353874:p.Arg984Leu					TLR9_ENST00000360658.2_Missense_Mutation_p.R984L|TLR9_ENST00000494383.1_Silent_p.A1137A	p.R1008L			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	3980	-			984			TIR.		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.3023G>T	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091776	0.94149	.	.	ENSG00000239732	ENST00000360658	T	0.08807	3.05	5.18	5.18	0.71444	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.42053	D	0.000780	T	0.36908	0.0984	M	0.89715	3.055	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.37314	-0.9711	10	0.87932	D	0	.	16.223	0.82269	0.0:1.0:0.0:0.0	.	1081;984	B4E0A1;Q9NR96	.;TLR9_HUMAN	L	984	ENSP00000353874:R984L	ENSP00000353874:R984L	R	-	2	0	TLR9	52230421	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	3.730000	0.55006	2.694000	0.91930	0.591000	0.81541	CGC		0.706	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			5	25	1	0	0.014758	1	0.015386	5	25					A	52255381	C	A	52255381	3	1	243	1	0	0	0	0	1	0	0	0	15955	768	27	4	151	4	TLR9	3	52255381	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		52255381	145767049	10	28480											
DKK2	27123	broad.mit.edu	37	chr4	107956682	107956682	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgatctgtgagctctccaCcatcagcaccgcggccagta	10	16	3	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr4:107956682C>G	ENST00000285311.3	-	1	772	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	23					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)		GAGCTCTCCACCATCAGCACC	0.647																																						ENST00000285311.3																			0				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						c.(67-69)Gtg>Ctg		dickkopf WNT signaling pathway inhibitor 2							80	82	81					4																	107956682		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956682C>G	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.67G>C	4.37:g.107956682C>G	ENSP00000285311:p.Val23Leu					DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	p.V23L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	772	-		Hepatocellular(203;0.217)	23					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.67G>C	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391759	0.25118	.	.	ENSG00000155011	ENST00000285311	T	0.41758	0.99	5.27	4.41	0.53225	.	0.303719	0.33144	N	0.005222	T	0.24198	0.0586	N	0.24115	0.695	0.80722	D	1	B;B	0.34015	0.435;0.015	B;B	0.27887	0.084;0.011	T	0.09640	-1.0665	10	0.02654	T	1	-8.4873	15.2714	0.73705	0.1411:0.8588:0.0:0.0	.	23;23	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	L	23	ENSP00000285311:V23L	ENSP00000285311:V23L	V	-	1	0	DKK2	108176131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.155000	0.64900	1.413000	0.46997	0.544000	0.68410	GTG		0.647	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			4	165	0	0	0	1	0	4	165					G	107956682	C	G	107956682	3	3	243	1	0	0	0	0	1	0	0	0	4545	507	18	4	728	4	DKK2	4	107956682	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		107956682	83197594	11	28481											
ENPP3	5169	broad.mit.edu	37	chr6	132059230	132059230	+	Frame_Shift_Del	DEL	G	G	-													atgccacagaaagaaatggaGtaaatgtggttagtggacca							TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr6:132059230delG	ENST00000414305.1	+	24	2555	c.2227delG	c.(2227-2229)gtafs	p.V743fs	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Frame_Shift_Del_p.V743fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	743	Nuclease.				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)		AAGAAATGGAGTAAATGTGGT	0.313																																						ENST00000414305.1																			0				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						c.(2227-2229)tafs		ectonucleotide pyrophosphatase/phosphodiesterase 3							112	122	119					6																	132059230		2202	4297	6499	SO:0001589	frameshift_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132059230delG	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.2227delG	6.37:g.132059230delG	ENSP00000406261:p.Val743fs					ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Frame_Shift_Del_p.V743fs	p.V743fs			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	24	2555	+	Breast(56;0.0753)		743			Nuclease.		Q5JTL3	Frame_Shift_Del	DEL	ENST00000414305.1	37	c.2227delG	CCDS5148.1																																																																																				0.313	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			14	49						14	49	---	---	---	---	-	132059230	G	-	132059230	7	5	243	1	0	1	0	1	0	0	0	0	5131	1029	36	0	2317	0	ENPP3	6	132059230	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		132059230	39055837	12	28482											
PDGFA	5154	broad.mit.edu	37	chr7	540795	540795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggattcaggcttgtggtcgCgcaggcgcactccaaatgct	13	12	1	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:540795C>T	ENST00000354513.5	-	5	930	c.538G>A	c.(538-540)Gcg>Acg	p.A180T	PDGFA_ENST00000402802.3_Missense_Mutation_p.A180T	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	180					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTTGTGGTCGCGCAGGCGCAC	0.542																																						ENST00000402802.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(538-540)Gcg>Acg		platelet-derived growth factor alpha polypeptide							253	234	241					7																	540795		2203	4296	6499	SO:0001583	missense	0				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:540795C>T		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"PDGF A-chain", "platelet-derived growth factor alpha chain"	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.538G>A	7.37:g.540795C>T	ENSP00000346508:p.Ala180Thr					PDGFA_ENST00000354513.5_Missense_Mutation_p.A180T	p.A180T	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	5	945	-		Ovarian(82;0.0112)	180					B5BU73	Missense_Mutation	SNP	ENST00000354513.5	37	c.538G>A	CCDS34578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.040|1.040	-0.679187|-0.679187	0.03378|0.03378	.|.	.|.	ENSG00000197461|ENSG00000197461	ENST00000402802;ENST00000354513|ENST00000400761	T;T|.	0.40756|.	1.04;1.02|.	4.98|4.98	-4.8|-4.8	0.03190|0.03190	Platelet-derived growth factor (PDGF) (2);|.	0.216928|.	0.46758|.	N|.	0.000280|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24618|.	0.107;0.001;0.002|.	B;B;B|.	0.10450|.	0.005;0.002;0.002|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.12766|.	T|.	0.61|.	-2.7699|-2.7699	7.4683|7.4683	0.27334|0.27334	0.0:0.4855:0.1302:0.3843|0.0:0.4855:0.1302:0.3843	.|.	194;180;180|.	Q32M96;P04085-2;P04085|.	.;.;PDGFA_HUMAN|.	T|H	180|186	ENSP00000383889:A180T;ENSP00000346508:A180T|.	ENSP00000346508:A180T|.	A|R	-|-	1|2	0|0	PDGFA|PDGFA	507321|507321	0.937000|0.937000	0.31787|0.31787	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	0.559000|0.559000	0.23485|0.23485	-1.237000|-1.237000	0.02539|0.02539	-0.302000|-0.302000	0.09304|0.09304	GCG|CGC		0.542	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			14	211	0	0	0	1	0	14	211					T	540795	C	T	540795	3	4	243	1	0	0	0	0	1	0	0	0	11657	768	27	1	120	1	PDGFA	7	540795	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		540795	158597868	13	28483											
DNAH11	8701	broad.mit.edu	37	chr7	21789848	21789848	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctttggggcaggagaaatcCcagatctgttcagcgatgaa	12	8	3	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:21789848C>G	ENST00000409508.3	+	54	8837	c.8806C>G	c.(8806-8808)Cca>Gca	p.P2936A	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2943A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2943	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAAATCCCAGATCTGTT	0.348									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8827-8829)Cca>Gca		dynein, axonemal, heavy chain 11							64	62	63					7																	21789848		1854	4098	5952	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21789848C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8806C>G	7.37:g.21789848C>G	ENSP00000475939:p.Pro2936Ala					DNAH11_ENST00000409508.3_Missense_Mutation_p.P2936A	p.P2943A			Q96DT5	DYH11_HUMAN			55	8858	+			2943			AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8827C>G		.	.	.	.	.	.	.	.	.	.	C	14.58	2.577674	0.45902	.	.	ENSG00000105877	ENST00000328843	T	0.58060	0.36	5.8	4.92	0.64577	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.104256	0.64402	D	0.000002	T	0.58793	0.2147	.	.	.	0.51767	D	0.999933	P	0.40431	0.717	P	0.47864	0.559	T	0.58165	-0.7684	9	0.38643	T	0.18	.	14.7154	0.69265	0.0:0.9306:0.0:0.0694	.	2943	Q96DT5	DYH11_HUMAN	A	2943	ENSP00000330671:P2943A	ENSP00000330671:P2943A	P	+	1	0	DNAH11	21756373	0.995000	0.38212	0.425000	0.26659	0.989000	0.77384	3.870000	0.56070	1.462000	0.47948	0.655000	0.94253	CCA		0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	10	0	0	0	1	0	6	10					G	21789848	C	G	21789848	3	3	243	1	0	0	0	0	1	0	0	0	4599	623	22	4	9042	4	DNAH11	7	21789848	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	21249053	21789848	137348815	14	28484											
ADAM32	203102	broad.mit.edu	37	chr8	39114706	39114706	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtatttctgtttttagGttcaatcatggaaagagcat	8	4	3	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:39114706G>T	ENST00000379907.4	+	19	2133	c.2006G>T	c.(2005-2007)gGt>gTt	p.G669V	ADAM32_ENST00000437682.2_Splice_Site_p.G570V|ADAM32_ENST00000519315.1_Splice_Site_p.G563V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	669						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGTTTTTAGGTTCAATCATG	0.308																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.e19-1		ADAM metallopeptidase domain 32							57	56	56					8																	39114706		1803	4067	5870	SO:0001630	splice_region_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39114706G>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2006-1G>T	8.37:g.39114706G>T						ADAM32_ENST00000519315.1_Splice_Site_p.G563_splice|ADAM32_ENST00000437682.2_Splice_Site_p.G570_splice	p.G669_splice	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		19	2133	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	669					Q8TC42	Splice_Site	SNP	ENST00000379907.4	37	c.2005_splice	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	2.202	-0.382850	0.04966	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.85955	-2.05;-2.05;-2.05	4.39	-5.24	0.02789	.	.	.	.	.	T	0.71829	0.3386	L	0.28400	0.85	0.23376	N	0.997804	P;B;B;B	0.41041	0.736;0.225;0.165;0.002	B;B;B;B	0.35550	0.205;0.047;0.043;0.004	T	0.61312	-0.7088	8	.	.	.	.	12.1001	0.53778	0.6067:0.0:0.3933:0.0	.	570;93;563;669	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	V	570;563;669	ENSP00000405978:G570V;ENSP00000429422:G563V;ENSP00000369238:G669V	.	G	+	2	0	ADAM32	39233863	0.003000	0.15002	0.001000	0.08648	0.011000	0.07611	-0.946000	0.03905	-1.185000	0.02716	-1.170000	0.01741	GGT		0.308	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	Missense_Mutation	5	11	1	0	0.014758	1	0.015386	5	11					T	39114706	G	T	39114706	5	4	243	1	0	0	0	0	0	0	1	0	249	1275	44	4	2080	4	ADAM32	8	39114706	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08		39114706	107249316	15	28485											
HRSP12	10247	broad.mit.edu	37	chr8	99129320	99129320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacccttctgatcaaggacGacatggctaagccttccctc	7	15	3	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:99129320G>A	ENST00000254878.3	-	1	149	c.5C>T	c.(4-6)tCg>tTg	p.S2L	POP1_ENST00000401707.2_5'Flank|POP1_ENST00000349693.3_5'Flank|HRSP12_ENST00000519155.1_5'UTR	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	2					regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCAAGGACGACATGGCTAA	0.612																																						ENST00000254878.3																			0				large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(4-6)tCg>tTg		heat-responsive protein 12							98	85	90					8																	99129320		2203	4300	6503	SO:0001583	missense	10247				regulation of translational termination	nucleus	endonuclease activity	g.chr8:99129320G>A	BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"translational inhibitor p14.5"	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.5C>T	8.37:g.99129320G>A	ENSP00000254878:p.Ser2Leu					HRSP12_ENST00000519155.1_5'UTR	p.S2L	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		1	149	-	Breast(36;1.78e-06)		2					Q6FHU9|Q6IBG0	Missense_Mutation	SNP	ENST00000254878.3	37	c.5C>T	CCDS6276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.321434|4.321434	0.81580|0.81580	.|.	.|.	ENSG00000132541|ENSG00000132541	ENST00000520507|ENST00000254878;ENST00000521560;ENST00000520989	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.196285	.|0.45606	.|D	.|0.000347	T|T	0.57695|0.57695	0.2071|0.2071	L|L	0.43152|0.43152	1.355|1.355	0.44214|0.44214	D|D	0.997042|0.997042	.|B	.|0.12013	.|0.005	.|B	.|0.04013	.|0.001	T|T	0.50742|0.50742	-0.8792|-0.8792	5|9	.|0.45353	.|T	.|0.12	.|.	18.1921|18.1921	0.89810|0.89810	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2	.|P52758	.|UK114_HUMAN	C|L	7|2;27;2	.|.	.|ENSP00000254878:S2L	R|S	-|-	1|2	0|0	HRSP12|HRSP12	99198496|99198496	1.000000|1.000000	0.71417|0.71417	0.791000|0.791000	0.31998|0.31998	0.980000|0.980000	0.70556|0.70556	7.180000|7.180000	0.77674|0.77674	2.832000|2.832000	0.97577|0.97577	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.612	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1	NM_005836		10	78	0	0	0	1	0	10	78					A	99129320	G	A	99129320	3	1	243	1	0	0	0	0	1	0	0	0	7360	1059	37	1	432	1	HRSP12	8	99129320	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	60014614	99129320	47234702	16	28486											
FOXD4	2298	broad.mit.edu	37	chr9	117891	117891	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaactctgaggggtcgcTcgggccgccgccgccctcga	14	17	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:117891T>G	ENST00000382500.2	-	1	526	c.229A>C	c.(229-231)Agc>Cgc	p.S77R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					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)		GAGGGGTCGCTCGGGCCGCCG	0.706																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(229-231)Agc>Cgc		forkhead box D4							38	63	55					9																	117891		2191	4290	6481	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117891T>G	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.229A>C	9.37:g.117891T>G	ENSP00000371940:p.Ser77Arg						p.S77R	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	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)	1	526	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	77					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.229A>C	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323347	0.24080	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.31	1.09	0.20402	.	0.344964	0.20083	N	0.099620	D	0.85991	0.5826	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.75379	-0.3338	10	0.44086	T	0.13	.	5.4913	0.16777	0.0:0.2829:0.0:0.7171	.	77	Q12950	FOXD4_HUMAN	R	77	ENSP00000371940:S77R	ENSP00000371940:S77R	S	-	1	0	FOXD4	107891	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-2.149000	0.01291	0.158000	0.19367	0.242000	0.17961	AGC		0.706	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		19	97	0	0	0	1	0	19	97					G	117891	T	G	117891	3	3	243	1	0	0	0	0	1	0	0	0	5999	1551	54	5	1094	5	FOXD4	9	117891	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		117891	141095540	17	28487											
PIGO	84720	broad.mit.edu	37	chr9	35093984	35093984	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacagtggtccacacccagGaagtgagcaatcagcacgtc	10	14	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:35093984G>A	ENST00000378617.3	-	4	1087	c.693C>T	c.(691-693)ttC>ttT	p.F231F	PIGO_ENST00000341666.3_Silent_p.F231F|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Silent_p.F231F|PIGO_ENST00000298004.5_Silent_p.F231F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	231				DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030). {ECO:0000305}.	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)			CCACACCCAGGAAGTGAGCAA	0.557																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(691-693)ttC>ttT		phosphatidylinositol glycan anchor biosynthesis, class O							116	98	105					9																	35093984		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093984G>A	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.693C>T	9.37:g.35093984G>A						PIGO_ENST00000361778.2_Silent_p.F231F|PIGO_ENST00000341666.3_Silent_p.F231F|PIGO_ENST00000298004.5_Silent_p.F231F	p.F231F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	1087	-			231	DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030).				B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.693C>T	CCDS6575.1																																																																																				0.557	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		12	42	0	0	0	1	0	12	42					A	35093984	G	A	35093984	2	1	243	1	0	0	0	0	0	0	0	1	11894	1165	41	2		2	PIGO	9	35093984	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	34976093	35093984	106119447	18	28488											
FBXO18	84893	broad.mit.edu	37	chr10	5948527	5948527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtttgccttcctcccgGtggaagacctctattggaac	10	12	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr10:5948527G>T	ENST00000362091.4	+	3	800	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.V280L|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	229					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTTCCTCCCGGTGGAAGACCT	0.567																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(838-840)Gtg>Ttg		F-box protein, helicase, 18							82	72	75					10																	5948527		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948527G>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.685G>T	10.37:g.5948527G>T	ENSP00000355415:p.Val229Leu					FBXO18_ENST00000362091.4_Missense_Mutation_p.V229L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	p.V280L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	942	+			229					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.838G>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457800	0.63401	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	T;T	0.54279	0.58;0.58	5.69	4.6	0.57074	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.111892	0.64402	D	0.000012	T	0.40372	0.1114	L	0.28054	0.825	0.80722	D	1	P;B;B	0.40230	0.708;0.267;0.267	B;B;B	0.36608	0.147;0.229;0.229	T	0.45629	-0.9248	10	0.56958	D	0.05	-23.8006	15.2652	0.73654	0.0796:0.0:0.9204:0.0	.	280;229;155	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	L	229;280	ENSP00000355415:V229L;ENSP00000369335:V280L	ENSP00000355415:V229L	V	+	1	0	FBXO18	5988533	1.000000	0.71417	0.979000	0.43373	0.865000	0.49528	4.451000	0.60047	2.678000	0.91216	0.655000	0.94253	GTG		0.567	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		29	95	1	0	5.90632e-09	1	6.89071e-09	29	95					T	5948527	G	T	5948527	3	4	243	1	0	0	0	0	1	0	0	0	5731	1261	44	4	857	4	FBXO18	10	5948527	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		5948527	129586220	19	28489											
MUC5B	727897	broad.mit.edu	37	chr11	1269703	1269703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagctcacactaccaaaGtgccgactaccacaaccacg	6	16	1	0	rs375778294		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:1269703G>A	ENST00000529681.1	+	31	11651	c.11593G>A	c.(11593-11595)Gtg>Atg	p.V3865M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V3868M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3865	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)		CACTACCAAAGTGCCGACTAC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11602-11604)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming		G	MET/VAL	1,4177		0,1,2088	115	136	129		11593	0.1	0	11		129	1,8401		0,1,4200	no	missense	MUC5B	NM_002458.2	21	0,2,6288	AA,AG,GG		0.0119,0.0239,0.0159	possibly-damaging	3865/5763	1269703	2,12578	2089	4201	6290	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269703G>A	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.11593G>A	11.37:g.1269703G>A	ENSP00000436812:p.Val3865Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V3865M|RP11-532E4.2_ENST00000532061.2_RNA	p.V3868M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11660	+		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)	3865			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11602G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	1.628	-0.519644	0.04171	2.39E-4	1.19E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19532	2.14;2.33	0.118	0.118	0.14667	.	.	.	.	.	T	0.24851	0.0603	M	0.62723	1.935	0.09310	N	1	P;P	0.50156	0.932;0.932	P;P	0.47162	0.54;0.54	T	0.14392	-1.0474	9	0.87932	D	0	.	6.011	0.19575	5.0E-4:0.0:0.9995:0.0	.	4393;3868	A7Y9J9;E9PBJ0	.;.	M	3865;3868;3809;3770	ENSP00000436812:V3865M;ENSP00000415793:V3868M	ENSP00000343037:V3809M	V	+	1	0	MUC5B	1226279	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.714000	0.05002	0.191000	0.20236	0.194000	0.17425	GTG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		18	131	0	0	0	1	0	18	131					A	1269703	G	A	1269703	3	1	243	1	0	0	0	0	1	0	0	0	9979	1029	36	2	11724	2	MUC5B	11	1269703	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		1269703	133736813	20	28490											
DCHS1	8642	broad.mit.edu	37	chr11	6653011	6653011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgctctgctgctcacGgtccagggtttggagtgtgg	15	9	2	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:6653011G>A	ENST00000299441.3	-	7	3922	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1171	Cadherin 11. {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)		TGCTGCTCACGGTCCAGGGTT	0.577																																						ENST00000299441.3																			0				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						c.(3511-3513)Cgt>Tgt		dachsous cadherin-related 1							61	56	58					11																	6653011		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653011G>A	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.3511C>T	11.37:g.6653011G>A	ENSP00000299441:p.Arg1171Cys					RP11-732A19.6_ENST00000526633.1_RNA	p.R1171C	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	3922	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1171			Cadherin 11.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3511C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856369	0.71834	.	.	ENSG00000166341	ENST00000299441	T	0.01767	4.65	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.40222	N	0.001144	T	0.13841	0.0335	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00326	-1.1815	10	0.51188	T	0.08	.	17.9063	0.88919	0.0:0.0:1.0:0.0	.	1171	Q96JQ0	PCD16_HUMAN	C	1171	ENSP00000299441:R1171C	ENSP00000299441:R1171C	R	-	1	0	DCHS1	6609587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.030000	0.76484	2.711000	0.92665	0.655000	0.94253	CGT		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		27	23	0	0	0	1	0	27	23					A	6653011	G	A	6653011	3	1	243	1	0	0	0	0	1	0	0	0	4287	1116	39	1	6445	1	DCHS1	11	6653011	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	5383308	6653011	128353505	21	28491											
KIAA0652	9776	broad.mit.edu	37	chr11	46671757	46671757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcaaagtttcctacacGgtgtacaacagactgtcatt	7	9	2	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:46671757G>A	ENST00000434074.1	+	6	1037	c.348G>A	c.(346-348)acG>acA	p.T116T	ATG13_ENST00000529655.1_Silent_p.T116T|ATG13_ENST00000524625.1_Silent_p.T116T|ATG13_ENST00000528494.1_Silent_p.T116T|ATG13_ENST00000451945.1_Silent_p.T116T|ATG13_ENST00000359513.4_Silent_p.T116T|ATG13_ENST00000312040.4_Silent_p.T116T|ATG13_ENST00000530500.1_Silent_p.T37T|ATG13_ENST00000526508.1_Silent_p.T116T	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	116					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						TTTCCTACACGGTGTACAACA	0.433																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(346-348)acG>acA		autophagy related 13							138	130	132					11																	46671757		2201	4299	6500	SO:0001819	synonymous_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46671757G>A	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.348G>A	11.37:g.46671757G>A						ATG13_ENST00000529655.1_Silent_p.T116T|ATG13_ENST00000530500.1_Silent_p.T37T|ATG13_ENST00000528494.1_Silent_p.T116T|ATG13_ENST00000359513.4_Silent_p.T116T|ATG13_ENST00000526508.1_Silent_p.T116T|ATG13_ENST00000312040.4_Silent_p.T116T|ATG13_ENST00000524625.1_Silent_p.T116T|ATG13_ENST00000451945.1_Silent_p.T116T	p.T116T	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN			6	1037	+			116					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	ENST00000434074.1	37	c.348G>A	CCDS44582.1																																																																																				0.433	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		31	52	0	0	0	1	0	31	52					A	46671757	G	A	46671757	2	1	243	1	0	0	0	0	0	0	0	1	8188	1103	39	1		1	KIAA0652	11	46671757	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	40018746	46671757	88334759	22	28492											
CD163L1	283316	broad.mit.edu	37	chr12	7586119	7586119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagtcacggcttgtccaaaaCgaaacatggcgaaagaaaat	9	8	1	1	rs146684411	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:7586119C>A	ENST00000313599.3	-	3	353	c.296G>T	c.(295-297)cGt>cTt	p.R99L	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99L|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478																																						ENST00000313599.3																			1	Substitution - Missense(1)	p.R99H(1)	ovary(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(295-297)cGt>cTt		CD163 molecule-like 1							120	95	104					12																	7586119		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586119C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.296G>T	12.37:g.7586119C>A	ENSP00000315945:p.Arg99Leu					CD163L1_ENST00000396630.1_Missense_Mutation_p.R99L|CD163L1_ENST00000416109.2_Missense_Mutation_p.R99L	p.R99L			Q9NR16	C163B_HUMAN			3	353	-			99			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.296G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634831	0.00806	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000543276	T;T;T;T	0.34667	1.35;1.35;1.35;3.49	1.5	-0.628	0.11537	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	2.179770	0.03610	U	0.234674	T	0.23766	0.0575	N	0.17723	0.515	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.17098	0.017;0.017	T	0.16482	-1.0401	10	0.21540	T	0.41	.	6.7663	0.23568	0.0:0.5433:0.0:0.4567	.	99;99	E7EVK4;Q9NR16	.;C163B_HUMAN	L	99;99;99;3	ENSP00000315945:R99L;ENSP00000393474:R99L;ENSP00000379871:R99L;ENSP00000442328:R3L	ENSP00000315945:R99L	R	-	2	0	CD163L1	7477386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.234000	0.09028	-0.635000	0.05531	-1.478000	0.00992	CGT		0.478	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		8	93	1	0	0.000978159	1	0.00108931	8	93					A	7586119	C	A	7586119	3	1	243	1	0	0	0	0	1	0	0	0	2968	536	19	4	4133	4	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		7586119	126265776	23	28493											
LRRK2	120892	broad.mit.edu	37	chr12	40704242	40704242	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttccctccaggctcgcgctTcttcttcccctgtgattctc	6	17	3	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:40704242T>A	ENST00000298910.7	+	31	4385	c.4327T>A	c.(4327-4329)Tct>Act	p.S1443T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1443	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				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)				GGCTCGCGCTTCTTCTTCCCC	0.458																																						ENST00000298910.7																			0				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						c.(4327-4329)Tct>Act		leucine-rich repeat kinase 2							100	94	96					12																	40704242		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704242T>A	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.4327T>A	12.37:g.40704242T>A	ENSP00000298910:p.Ser1443Thr						p.S1443T	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4385	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1443			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4327T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162084	0.78226	.	.	ENSG00000188906	ENST00000298910	T	0.68025	-0.3	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.182130	0.50627	D	0.000116	T	0.66436	0.2789	L	0.48218	1.51	0.40645	D	0.981985	P;P	0.44627	0.705;0.839	B;P	0.45232	0.39;0.474	T	0.71481	-0.4580	10	0.66056	D	0.02	.	15.8391	0.78831	0.0:0.0:0.0:1.0	.	1443;1443	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1443	ENSP00000298910:S1443T	ENSP00000298910:S1443T	S	+	1	0	LRRK2	38990509	1.000000	0.71417	0.513000	0.27749	0.636000	0.38137	4.221000	0.58574	2.144000	0.66660	0.528000	0.53228	TCT		0.458	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	89	0	0	0	1	0	4	89					A	40704242	T	A	40704242	3	1	243	1	0	0	0	0	1	0	0	0	9033	1783	62	5	4449	5	LRRK2	12	40704242	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	33118123	40704242	93147653	24	28494											
LATS2	26524	broad.mit.edu	37	chr13	21549240	21549240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctaccttcgctggcatcGttccaagggctttcttcatc	9	13	2	0	rs530420148		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr13:21549240G>A	ENST00000382592.4	-	8	3441	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LATS2_ENST00000542899.1_Silent_p.N1012N	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)		CGCTGGCATCGTTCCAAGGGC	0.557																																						ENST00000382592.4																			0				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						c.(3034-3036)aaC>aaT		large tumor suppressor kinase 2							241	216	224					13																	21549240		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549240G>A	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.3036C>T	13.37:g.21549240G>A						LATS2_ENST00000542899.1_Silent_p.N1012N	p.N1012N	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		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)	8	3441	-		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)	1012			AGC-kinase C-terminal.			Silent	SNP	ENST00000382592.4	37	c.3036C>T	CCDS9294.1																																																																																				0.557	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			47	135	0	0	0	1	0	47	135					A	21549240	G	A	21549240	2	1	243	1	0	0	0	0	0	0	0	1	8647	1136	40	1		1	LATS2	13	21549240	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08		21549240	93620638	25	28495											
OR4K2	390431	broad.mit.edu	37	chr14	20345254	20345254	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctgtctgtgttttatacCatctttactcccactctgaa	4	11	4	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:20345254C>A	ENST00000298642.2	+	1	864	c.828C>A	c.(826-828)acC>acA	p.T276T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	276						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(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATACCATCTTTACTC	0.358																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(826-828)acC>acA		olfactory receptor, family 4, subfamily K, member 2							131	134	133					14																	20345254		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345254C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.828C>A	14.37:g.20345254C>A							p.T276T	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	864	+	all_cancers(95;0.00108)		276					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.828C>A	CCDS32023.1																																																																																				0.358	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			16	93	1	0	3.52763e-06	1	4.01986e-06	16	93					A	20345254	C	A	20345254	2	1	243	1	0	0	0	0	0	0	0	1	11072	581	21	4		4	OR4K2	14	20345254	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08		20345254	87004286	26	28496											
MAX	4149	broad.mit.edu	37	chr14	65544633	65544633	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagctcgggtgctcacctTgctgctccagaagagcattc	11	13	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:65544633T>G	ENST00000358664.4	-	4	423	c.293A>C	c.(292-294)cAa>cCa	p.Q98P	MAX_ENST00000341653.2_Intron|MAX_ENST00000284165.6_Missense_Mutation_p.Q98P|MAX_ENST00000555419.1_Missense_Mutation_p.Q62P|MAX_ENST00000556979.1_Missense_Mutation_p.Q98P|MAX_ENST00000557277.1_Missense_Mutation_p.K7Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q89P|MAX_ENST00000358402.4_Missense_Mutation_p.Q89P|MAX_ENST00000556443.1_Missense_Mutation_p.Q89P|MAX_ENST00000557746.1_Missense_Mutation_p.Q89P	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	98	Leucine-zipper.				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)		GTGCTCACCTTGCTGCTCCAG	0.557																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(292-294)cAa>cCa		MYC associated factor X							102	83	89					14																	65544633		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544633T>G		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.293A>C	14.37:g.65544633T>G	ENSP00000351490:p.Gln98Pro					MAX_ENST00000556443.1_Missense_Mutation_p.Q89P|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q89P|MAX_ENST00000555419.1_Missense_Mutation_p.Q62P|MAX_ENST00000358664.4_Missense_Mutation_p.Q98P|MAX_ENST00000358402.4_Missense_Mutation_p.Q89P|MAX_ENST00000556979.1_Missense_Mutation_p.Q98P|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.Q89P|MAX_ENST00000557277.1_Missense_Mutation_p.K7Q	p.Q98P	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	441	-			98			Leucine-zipper.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.293A>C	CCDS9771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.534439|3.534439	0.64972|0.64972	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000557277|ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556892;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D|D;D;D;D;D;D;D;D;D	0.84660|0.98400	-1.88|-4.91;-4.91;-4.91;-4.14;-2.93;-4.91;-4.91;-4.91;-4.91	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Helix-loop-helix DNA-binding (1);	.|0.050503	.|0.85682	.|D	.|0.000000	D|D	0.98686|0.98686	0.9559|0.9559	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|D;D;P;P;D	.|0.76494	.|0.999;0.998;0.832;0.932;0.999	.|D;D;P;P;D	.|0.74348	.|0.969;0.953;0.674;0.602;0.983	D|D	0.99814|0.99814	1.1043|1.1043	6|10	.|0.87932	.|D	.|0	-28.6549|-28.6549	14.2912|14.2912	0.66278|0.66278	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|98;89;89;98;98	.|Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.|.;.;.;MAX_HUMAN;.	Q|P	7|89;98;98;62;25;105;98;89;89;89	ENSP00000450955:K7Q|ENSP00000351175:Q89P;ENSP00000284165:Q98P;ENSP00000351490:Q98P;ENSP00000452405:Q62P;ENSP00000452206:Q25P;ENSP00000452378:Q98P;ENSP00000452286:Q89P;ENSP00000452197:Q89P;ENSP00000450818:Q89P	.|ENSP00000284165:Q98P	K|Q	-|-	1|2	0|0	MAX|MAX	64614386|64614386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.990000|7.990000	0.88215|0.88215	2.014000|2.014000	0.59158|0.59158	0.454000|0.454000	0.30748|0.30748	AAG|CAA		0.557	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		15	57	0	0	0	1	0	15	57					G	65544633	T	G	65544633	3	3	243	1	0	0	0	0	1	0	0	0	9339	1812	63	5	413	5	MAX	14	65544633	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	45199379	65544633	41804907	27	28497											
GINS2	51659	broad.mit.edu	37	chr16	85722433	85722433	+	Frame_Shift_Del	DEL	G	G	-													accccgatgaggtagatcttGtccagactgaagttggggat							TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr16:85722433delG	ENST00000253462.3	-	1	172	c.72delC	c.(70-72)gacfs	p.D24fs	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	24					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						GGTAGATCTTGTCCAGACTGA	0.692																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(70-72)gafs		GINS complex subunit 2 (Psf2 homolog)							31	25	27					16																	85722433		2148	4212	6360	SO:0001589	frameshift_variant	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85722433delG	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.72delC	16.37:g.85722433delG	ENSP00000253462:p.Asp24fs						p.D24fs	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			1	172	-			24					D3DUM5|Q6IAG9	Frame_Shift_Del	DEL	ENST00000253462.3	37	c.72delC	CCDS10953.1																																																																																				0.692	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		2	4						2	4	---	---	---	---	-	85722433	G	-	85722433	7	5	243	1	0	1	0	1	0	0	0	0	6388	1368	48	0	505	0	GINS2	16	85722433	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		85722433	4632320	28	28498											
MYH8	4626	broad.mit.edu	37	chr17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaacttcattctggagcCgctgcttcgtcttctcaagg	8	13	5	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:10300214C>T	ENST00000403437.2	-	31	4362	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1423					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						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(4267-4269)cGg>cAg		myosin, heavy chain 8, skeletal muscle, perinatal							98	91	93					17																	10300214		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300214C>T		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.4268G>A	17.37:g.10300214C>T	ENSP00000384330:p.Arg1423Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1423Q	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4362	-			1423					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4268G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024275	0.93462	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83250	-1.7	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.39759	U	0.001266	D	0.93612	0.7960	M	0.93720	3.45	0.50171	D	0.999852	D	0.89917	1.0	D	0.97110	1.0	D	0.94709	0.7890	10	0.66056	D	0.02	.	18.8216	0.92099	0.0:1.0:0.0:0.0	.	1423	P13535	MYH8_HUMAN	Q	1423	ENSP00000384330:R1423Q	ENSP00000252173:R1423Q	R	-	2	0	MYH8	10240939	0.997000	0.39634	0.998000	0.56505	0.697000	0.40408	7.525000	0.81892	2.687000	0.91594	0.650000	0.86243	CGG		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		19	43	0	0	0	1	0	19	43					T	10300214	C	T	10300214	3	4	243	1	0	0	0	0	1	0	0	0	10041	652	23	1	1585	1	MYH8	17	10300214	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		10300214	70894996	29	28499											
SUPT6H	6830	broad.mit.edu	37	chr17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagagctatgaccaggCgatccgcaatgatgagacag	15	8	0	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:27018008C>T	ENST00000314616.6	+	27	3843	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATGACCAGGCGATCCGCAAT	0.552																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3559-3561)gCg>gTg		suppressor of Ty 6 homolog (S. cerevisiae)							121	91	101					17																	27018008		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27018008C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3560C>T	17.37:g.27018008C>T	ENSP00000319104:p.Ala1187Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			27	3843	+	Lung NSC(42;0.00431)		1187					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3560C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365543	0.82463	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.62209	1.925	0.80722	D	1	P	0.46987	0.888	B	0.32465	0.146	T	0.57957	-0.7721	9	0.33141	T	0.24	-13.7195	19.5095	0.95135	0.0:1.0:0.0:0.0	.	1187	Q7KZ85	SPT6H_HUMAN	V	1187	.	ENSP00000319104:A1187V	A	+	2	0	SUPT6H	24042135	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.165000	0.77544	2.679000	0.91253	0.655000	0.94253	GCG		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		8	57	0	0	0	1	0	8	57					T	27018008	C	T	27018008	3	4	243	1	0	0	0	0	1	0	0	0	15397	768	27	1	3662	1	SUPT6H	17	27018008	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	16717794	27018008	54177202	30	28500											
KRT37	8688	broad.mit.edu	37	chr17	39580429	39580429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttctccaggtagttgGccaggcggtcattcaggaac	12	12	3	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:39580429G>A	ENST00000225550.3	-	1	346	c.347C>T	c.(346-348)gCc>gTc	p.A116V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	116	Coil 1A.|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)				CAGGTAGTTGGCCAGGCGGTC	0.582																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(346-348)gCc>gTc		keratin 37							111	94	100					17																	39580429		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580429G>A	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.347C>T	17.37:g.39580429G>A	ENSP00000225550:p.Ala116Val					AC003958.2_ENST00000432258.1_RNA	p.A116V	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			1	346	-		Breast(137;0.000496)	116			Coil 1A.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.347C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	31	5.103094	0.94245	.	.	ENSG00000108417	ENST00000225550	D	0.95137	-3.62	4.69	4.69	0.59074	Filament (1);	0.000000	0.49305	D	0.000155	D	0.97936	0.9321	M	0.93507	3.425	0.50632	D	0.999884	D	0.89917	1.0	D	0.91635	0.999	D	0.99353	1.0915	10	0.87932	D	0	.	16.591	0.84765	0.0:0.0:1.0:0.0	.	116	O76014	KRT37_HUMAN	V	116	ENSP00000225550:A116V	ENSP00000225550:A116V	A	-	2	0	KRT37	36833955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.755000	0.74914	2.169000	0.68431	0.655000	0.94253	GCC		0.582	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		37	90	0	0	0	1	0	37	90					A	39580429	G	A	39580429	3	1	243	1	0	0	0	0	1	0	0	0	8474	1203	42	2	1030	2	KRT37	17	39580429	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	12562421	39580429	41614781	31	28501											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625638	74625638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcctctgtctccggtgGtgtgggccttgggctgggtt	15	11	2	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:74625638G>A	ENST00000156626.7	-	2	486	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ST6GALNAC1_ENST00000590878.1_5'UTR	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	96					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						GTCTCCGGTGGTGTGGGCCTT	0.597																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(286-288)aCc>aTc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							144	128	134					17																	74625638		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625638G>A	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.287C>T	17.37:g.74625638G>A	ENSP00000156626:p.Thr96Ile					ST6GALNAC1_ENST00000590878.1_5'UTR	p.T96I	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	486	-			96					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.287C>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225538	0.22457	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.21932	2.01;1.98	3.87	-7.75	0.01236	.	3.124410	0.01768	N	0.030970	T	0.11410	0.0278	N	0.19112	0.55	0.19775	N	0.99996	B	0.19331	0.035	B	0.12156	0.007	T	0.15492	-1.0435	10	0.35671	T	0.21	2.0738	5.7598	0.18192	0.1718:0.5633:0.1512:0.1136	.	96	Q9NSC7	SIA7A_HUMAN	I	96	ENSP00000156626:T96I;ENSP00000351991:T96I	ENSP00000156626:T96I	T	-	2	0	ST6GALNAC1	72137233	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.441000	0.02409	-1.610000	0.01583	-0.802000	0.03209	ACC		0.597	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		8	40	0	0	0	1	0	8	40					A	74625638	G	A	74625638	3	1	243	1	0	0	0	0	1	0	0	0	15222	1261	44	2	1547	2	ST6GALNAC1	17	74625638	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	35045209	74625638	6569572	32	28502											
USP14	9097	broad.mit.edu	37	chr18	202880	202880	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttatgttctttcttagCgacttcaggaagaaatcacc	7	9	5	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr18:202880C>T	ENST00000261601.7	+	11	968	c.877C>T	c.(877-879)Cga>Tga	p.R293*	USP14_ENST00000383589.2_Splice_Site_p.R247*|USP14_ENST00000582707.1_Splice_Site_p.R258*|USP14_ENST00000400266.3_Splice_Site_p.R282*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	293	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTTCTTAGCGACTTCAGGA	0.353																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.e11-1		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							71	69	70					18																	202880		2203	4300	6503	SO:0001630	splice_region_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:202880C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.877-1C>T	18.37:g.202880C>T						USP14_ENST00000582707.1_Splice_Site_p.R258_splice|USP14_ENST00000400266.3_Splice_Site_p.R282_splice|USP14_ENST00000383589.2_Splice_Site_p.R247_splice	p.R293_splice	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			11	968	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	293					J3QRZ5|Q53XY5	Splice_Site	SNP	ENST00000261601.7	37	c.876_splice	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.304658	0.81136	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.79	-1.86	0.07760	.	0.049144	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.1055	18.4773	0.90798	0.6019:0.3981:0.0:0.0	.	.	.	.	X	293;258;282	.	.	R	+	1	2	USP14	192880	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	1.731000	0.38135	-0.186000	0.10533	-0.309000	0.09137	CGA		0.353	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	Nonsense_Mutation	9	43	0	0	0	1	0	9	43					T	202880	C	T	202880	5	4	243	1	0	0	0	0	0	0	1	0	17042	782	27	1	919	1	USP14	18	202880	Splice_Site	SNP	C	TCGA-HT-7480-01A-11D-2086-08		202880	77874368	33	28503											
ZNF98	148198	broad.mit.edu	37	chr19	22574657	22574657	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagtatgaattat	6	8	3	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:22574657T>C	ENST00000357774.5	-	4	1501	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	460					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(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGTAGGGTTTCTCTCCAG	0.373																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1378-1380)aaA>aaG		zinc finger protein 98							21	20	21					19																	22574657		1671	3788	5459	SO:0001819	synonymous_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574657T>C		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1380A>G	19.37:g.22574657T>C							p.K460K	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	1501	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	460						Silent	SNP	ENST00000357774.5	37	c.1380A>G	CCDS46031.1																																																																																				0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	84	0	0	0	1	0	4	84					C	22574657	T	C	22574657	2	2	243	1	0	0	0	0	0	0	0	1	18200	1722	60	3		3	ZNF98	19	22574657	Silent	SNP	T	TCGA-HT-7480-01A-11D-2086-08		22574657	36554326	34	28504											
ZNF91	7644	broad.mit.edu	37	chr19	23542477	23542477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCggtgtgcaacctcttatgtc	9	10	2	0	rs370911694		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:23542477C>T	ENST00000300619.7	-	4	3509	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1102					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)				GGTTTCTCTCCGGTGTGCAAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19122	0.0		0.0	False		,,,				2504	0.0					ENST00000300619.7																			0											c.(3304-3306)Gga>Aga		zinc finger protein 91		C	ARG/GLY	1,4279		0,1,2139	69	75	73		3304	0.4	0.1	19		73	0,8532		0,0,4266	no	missense	ZNF91	NM_003430.2	125	0,1,6405	TT,TC,CC		0.0,0.0234,0.0078	probably-damaging	1102/1192	23542477	1,12811	2140	4266	6406	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542477C>T	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.3304G>A	19.37:g.23542477C>T	ENSP00000300619:p.Gly1102Arg					ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070R|ZNF91_ENST00000599743.1_Intron	p.G1102R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3509	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1102					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3304G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130703	0.37630	2.34E-4	0.0	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01629	4.72;4.72	1.49	0.38	0.16222	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.58925	1.835	0.27863	N	0.94034	D;D	0.89917	1.0;1.0	D;D	0.68621	0.931;0.959	T	0.31806	-0.9930	9	0.59425	D	0.04	.	4.9731	0.14127	0.0:0.6454:0.0:0.3546	.	1070;1102	Q05481-2;Q05481	.;ZNF91_HUMAN	R	1102;1070	ENSP00000300619:G1102R;ENSP00000380272:G1070R	ENSP00000300619:G1102R	G	-	1	0	ZNF91	23334317	0.005000	0.15991	0.056000	0.19401	0.191000	0.23601	1.343000	0.33930	0.793000	0.33875	0.196000	0.17591	GGA		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		23	53	0	0	0	1	0	23	53					T	23542477	C	T	23542477	3	4	243	1	0	0	0	0	1	0	0	0	18197	661	23	1	275	1	ZNF91	19	23542477	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	967820	23542477	35586506	35	28505											
CIC	23152	broad.mit.edu	37	chr19	42796451	42796451	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatttcctctcctgcggcaGaatcacctatgtgcagtcag	8	14	3	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:42796451G>T	ENST00000575354.2	+	13	3048		c.e13-1		CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000572681.2_Splice_Site	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						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)				TCCTGCGGCAGAATCACCTAT	0.662			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.e14-1		capicua transcriptional repressor							50	57	55					19																	42796451		2197	4287	6484	SO:0001630	splice_region_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796451G>T	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.3009-1G>T	19.37:g.42796451G>T						CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000575354.2_Splice_Site				Q96RK0	CIC_HUMAN			14	5803	+		Prostate(69;0.00682)						Q7LGI1|Q9UEG5|Q9Y6T1	Splice_Site	SNP	ENST00000575354.2	37		CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066680	0.76301	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1439	0.81551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIC	47488291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.342000	0.65970	2.686000	0.91538	0.561000	0.74099	.		0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		Intron	35	57	1	0	2.54651e-27	1	3.04339e-27	35	57					T	42796451	G	T	42796451	5	4	243	1	0	0	0	0	0	0	1	0	3424	956	33	4	3058	4	CIC	19	42796451	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08	19253974	42796451	16332532	36	28506											
CHGB	1114	broad.mit.edu	37	chr20	5905619	5905619	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttttctgtattttccagaAaaaagaactcgaaaacttgg	6	7	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:5905619A>G	ENST00000378961.4	+	5	2162	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	653						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATTTTCCAGAAAAAAGAACTC	0.443																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.e5-1		chromogranin B (secretogranin 1)							64	65	64					20																	5905619		2203	4300	6503	SO:0001630	splice_region_variant	1114					extracellular region	hormone activity	g.chr20:5905619A>G		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1957-1A>G	20.37:g.5905619A>G							p.K653_splice	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			5	2162	+			653					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Splice_Site	SNP	ENST00000378961.4	37	c.1956_splice	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.334896	0.41297	.	.	ENSG00000089199	ENST00000378961	T	0.01871	4.59	5.69	5.69	0.88448	.	0.262261	0.32901	N	0.005516	T	0.02418	0.0074	N	0.19112	0.55	0.28899	N	0.893393	B	0.23185	0.081	B	0.25506	0.061	T	0.31308	-0.9948	10	0.62326	D	0.03	-13.832	13.2852	0.60239	0.8684:0.1316:0.0:0.0	.	653	P05060	SCG1_HUMAN	R	653	ENSP00000368244:K653R	ENSP00000368244:K653R	K	+	2	0	CHGB	5853619	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	4.578000	0.60929	2.293000	0.77203	0.533000	0.62120	AAA		0.443	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	Missense_Mutation	18	20	0	0	0	1	0	18	20					G	5905619	A	G	5905619	5	3	243	1	0	0	0	0	0	0	1	0	3339	28	1	3	1976	3	CHGB	20	5905619	Splice_Site	SNP	A	TCGA-HT-7480-01A-11D-2086-08		5905619	57119901	37	28507											
KCNG1	3755	broad.mit.edu	37	chr20	49626813	49626813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgggtggaaggaggcGtccgaggtgcagctcagcgc	19	10	1	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:49626813G>A	ENST00000371571.4	-	2	348	c.63C>T	c.(61-63)gaC>gaT	p.D21D	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.D21D	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	21					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)	p.D21D(1)		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						GGAAGGAGGCGTCCGAGGTGC	0.672																																						ENST00000371571.4																			1	Substitution - coding silent(1)	p.D21D(1)	upper_aerodigestive_tract(1)	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						c.(61-63)gaC>gaT		potassium voltage-gated channel, subfamily G, member 1							33	34	34					20																	49626813		2187	4255	6442	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626813G>A	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.63C>T	20.37:g.49626813G>A						KCNG1_ENST00000396017.3_Silent_p.D21D	p.D21D	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	348	-			21					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.63C>T	CCDS13436.1																																																																																				0.672	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		6	29	0	0	0	1	0	6	29					A	49626813	G	A	49626813	2	1	243	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626813	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	43721194	49626813	13398707	38	28508											
TRPM2	7226	broad.mit.edu	37	chr21	45838405	45838405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagttccagcaaaagcagcGgcccgagcagaagatcgagg	13	11	0	2	rs151101670	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr21:45838405G>A	ENST00000397928.1	+	22	3873	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	TRPM2_ENST00000300481.9_Missense_Mutation_p.R1123Q|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1143Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1143Q|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1143					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						CAAAAGCAGCGGCCCGAGCAG	0.607																																						ENST00000397928.1																			0				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						c.(3427-3429)cGg>cAg		transient receptor potential cation channel, subfamily M, member 2		G	GLN/ARG	0,4406		0,0,2203	133	138	137		3428	2.6	0.4	21	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TRPM2	NM_003307.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1143/1504	45838405	2,13004	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45838405G>A	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.3428G>A	21.37:g.45838405G>A	ENSP00000381023:p.Arg1143Gln					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1123Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1143Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1143Q	p.R1143Q	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			22	3873	+			1143					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3428G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190184	0.21954	0.0	2.33E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.76186	1.58;1.58;1.58;-1.0	4.42	2.57	0.30868	.	0.454611	0.22570	N	0.058350	T	0.58906	0.2155	L	0.51422	1.61	0.09310	N	0.999992	B;B;B	0.30511	0.282;0.086;0.05	B;B;B	0.15052	0.012;0.008;0.012	T	0.42103	-0.9471	10	0.23891	T	0.37	-25.0096	4.7817	0.13206	0.2279:0.0:0.6048:0.1674	.	1143;929;1143	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Q	1143;1143;1123;1143	ENSP00000300482:R1143Q;ENSP00000381023:R1143Q;ENSP00000300481:R1123Q;ENSP00000381026:R1143Q	ENSP00000300481:R1123Q	R	+	2	0	TRPM2	44662833	0.982000	0.34865	0.442000	0.26870	0.178000	0.23041	1.526000	0.35964	0.423000	0.26033	0.514000	0.50259	CGG		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		7	195	0	0	0	1	0	7	195					A	45838405	G	A	45838405	3	1	243	1	0	0	0	0	1	0	0	0	16583	1116	39	1	3514	1	TRPM2	21	45838405	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		45838405	2291490	39	28509											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	90	0	0	0	1	0	3	90					G	37028425	A	G	37028425	3	3	243	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7480-01A-11D-2086-08		37028425	118242135	40	28510											
FUBP1	8880	broad.mit.edu	37	chr1	78420962	78420962	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttcttgtagtactcttcCcaagccttggtataatcaac	5	10	3	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	ENST00000370768.2	-	18	1839	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.W586*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	586					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTACTCTTCCCAAGCCTTGG	0.318			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1756-1758)tgG>tgA		far upstream element (FUSE) binding protein 1							56	56	56					1																	78420962		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78420962C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1758G>A	1.37:g.78420962C>T	ENSP00000359804:p.Trp586*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W586*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*	p.W586*			Q96AE4	FUBP1_HUMAN			18	1845	-			586					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.1758G>A	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	38	6.976393	0.97975	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3913	14.7779	0.69743	0.0:0.9306:0.0:0.0694	.	.	.	.	X	586;586;586;571;607	.	ENSP00000294623:W585X	W	-	3	0	FUBP1	78193550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.787000	0.85759	1.413000	0.46997	0.655000	0.94253	TGG		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	22	0	0	0	1	0	9	22					T	78420962	C	T	78420962	4	4	244	1	0	0	0	0	0	1	0	0	6092	624	22	2	188	2	FUBP1	1	78420962	Nonsense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		78420962	170829659	1	28511											
HRNR	388697	broad.mit.edu	37	chr1	152191242	152191242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgttgttcgtagctggAggagtgacctgagccagatc	15	9	0	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	ENST00000368801.2	-	3	2938	c.2863T>C	c.(2863-2865)Tcc>Ccc	p.S955P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	955					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)			TCGTAGCTGGAGGAGTGACCT	0.542																																						ENST00000368801.2																			0				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						c.(2863-2865)Tcc>Ccc		hornerin							271	265	267					1																	152191242		2203	4298	6501	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191242A>G	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.2863T>C	1.37:g.152191242A>G	ENSP00000357791:p.Ser955Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S955P	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2938	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		955					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2863T>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	5.690	0.311866	0.10789	.	.	ENSG00000197915	ENST00000368801	T	0.02032	4.49	3.39	-0.965	0.10323	.	.	.	.	.	T	0.01254	0.0041	L	0.46157	1.445	0.09310	N	1	D	0.58620	0.983	P	0.53401	0.725	T	0.45293	-0.9271	9	0.27785	T	0.31	.	4.5836	0.12271	0.4264:0.3859:0.0:0.1877	.	955	Q86YZ3	HORN_HUMAN	P	955	ENSP00000357791:S955P	ENSP00000357791:S955P	S	-	1	0	HRNR	150457866	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.094000	0.30951	-0.433000	0.07286	-0.666000	0.03841	TCC		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		91	275	0	0	0	1	0	91	275					G	152191242	A	G	152191242	3	3	244	1	0	0	0	0	1	0	0	0	7359	304	11	3	5693	3	HRNR	1	152191242	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	73770280	152191242	97059379	2	28512											
SLC39A1	27173	broad.mit.edu	37	chr1	153932932	153932932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcacagctccatggccCgagcccggtctcgctgcagc	12	18	1	0	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	ENST00000368623.3	-	3	1376	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q|CRTC2_ENST00000368630.3_5'Flank|CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	206					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCCATGGCCCGAGCCCGGTC	0.662																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(616-618)cGg>cAg		solute carrier family 39 (zinc transporter), member 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	37	36	36		617	4.8	1	1	dbSNP_134	36	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SLC39A1	NM_014437.3	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging	206/325	153932932	6,13000	2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932932C>T	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"Solute carriers"	12876	protein-coding gene	gene with protein product		604740	"zinc/iron regulated transporter-like"	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.617G>A	1.37:g.153932932C>T	ENSP00000357612:p.Arg206Gln					SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q	p.R206Q			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	3	1376	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		206					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.617G>A	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060357	0.55432	2.27E-4	5.81E-4	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;2.23	4.83	4.83	0.62350	.	0.384214	0.23760	N	0.044827	T	0.21962	0.0529	L	0.31476	0.935	0.40521	D	0.980837	B;B	0.20988	0.05;0.033	B;B	0.26416	0.009;0.069	T	0.05084	-1.0907	10	0.15952	T	0.53	-20.7952	15.4884	0.75584	0.0:1.0:0.0:0.0	.	104;206	B4DDY7;Q9NY26	.;S39A1_HUMAN	Q	206;206;206;206;104;195;206;206;206	ENSP00000348535:R206Q;ENSP00000357612:R206Q;ENSP00000357610:R206Q;ENSP00000309710:R206Q;ENSP00000443632:R104Q;ENSP00000392950:R206Q;ENSP00000392229:R206Q;ENSP00000407717:R206Q	ENSP00000309710:R206Q	R	-	2	0	SLC39A1	152199556	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	1.379000	0.34340	2.510000	0.84645	0.455000	0.32223	CGG		0.662	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		4	45	0	0	0	1	0	4	45					T	153932932	C	T	153932932	3	4	244	1	0	0	0	0	1	0	0	0	14612	652	23	1	361	1	SLC39A1	1	153932932	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	1741690	153932932	95317689	3	28513											
TP53BP2	7159	broad.mit.edu	37	chr1	223990463	223990465	+	In_Frame_Del	DEL	CTT	CTT	-													tctttttgctgtagagctgcCttcttcttccacagccggtc					rs536474172		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	ENST00000343537.7	-	8	1255_1257	c.964_966delAAG	c.(964-966)aagdel	p.K322del	TP53BP2_ENST00000498843.1_5'Flank|TP53BP2_ENST00000391878.2_In_Frame_Del_p.K193del|TP53BP2_ENST00000391879.2_5'Flank	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	316					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(577-579)del		tumor protein p53 binding protein, 2																																				SO:0001651	inframe_deletion	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223990463_223990465delCTT	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.964_966delAAG	1.37:g.223990469_223990471delCTT	ENSP00000341957:p.Lys322del					TP53BP2_ENST00000343537.7_In_Frame_Del_p.K322del	p.K193del	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	9	1345_1347	-			316					B4DG66|Q12892|Q86X75|Q96KQ3	In_Frame_Del	DEL	ENST00000343537.7	37	c.577_579delAAG	CCDS44319.1																																																																																				0.463	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		7	162						7	162	---	---	---	---	-	223990465	CTT	-	223990463	7	5	244	1	0	1	0	1	0	0	0	0	16381	680	24	0	2482	0	TP53BP2	1	223990463	In_Frame_Del	DEL	CTT	TCGA-HT-7481-01A-11D-2024-08	70057531	223990463	25260158	4	28514											
DNMT3A	1788	broad.mit.edu	37	chr2	25470985	25470985	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggctcaggcgtggtaGccacagtgggggatgcgggg	20	10	1	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	ENST00000264709.3	-	7	1113	c.776C>G	c.(775-777)gCt>gGt	p.A259G	DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	259	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)					AGGCGTGGTAGCCACAGTGGG	0.647			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(775-777)gCt>gGt		DNA (cytosine-5-)-methyltransferase 3 alpha							60	63	62					2																	25470985		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470985G>C		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.776C>G	2.37:g.25470985G>C	ENSP00000264709:p.Ala259Gly					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G	p.A259G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			7	1113	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		259			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.776C>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689836	0.88735	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.94046	-3.32;-3.3;-3.3;-3.34	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.34521	1.04	0.80722	D	1	P;P	0.51057	0.836;0.941	B;B	0.43809	0.422;0.432	D	0.89120	0.3502	10	0.28530	T	0.3	-8.6505	18.2356	0.89948	0.0:0.0:1.0:0.0	.	259;70	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	G	70;259;259;36	ENSP00000370122:A70G;ENSP00000324375:A259G;ENSP00000264709:A259G;ENSP00000384237:A36G	ENSP00000264709:A259G	A	-	2	0	DNMT3A	25324489	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	8.913000	0.92730	2.653000	0.90120	0.563000	0.77884	GCT		0.647	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		23	54	0	0	0	1	0	23	54					C	25470985	G	C	25470985	3	2	244	1	0	0	0	0	1	0	0	0	4676	971	34	4	2030	4	DNMT3A	2	25470985	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		25470985	217728388	5	28515											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	70	0	0	0	1	0	16	70					T	209113112	C	T	209113112	3	4	244	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	183642127	209113112	34086261	6	28516											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	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)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	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						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		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		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	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		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	13	76	0	0	0	1	0	13	76					A	178917478	G	A	178917478	5	1	244	1	0	0	0	0	0	0	1	0	11913	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-HT-7481-01A-11D-2024-08		178917478	19104952	7	28517											
PIK3CA	5290	broad.mit.edu	37	chr3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-													tggccagtacctcatggattAgaagatttgctgaaccctat					rs397517200		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {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.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		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)	CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		20	Substitution - Missense(17)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)	endometrium(9)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	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						c.(1354-1359)tta>tt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928078_178928080delAGA		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.1356_1358delAGA	3.37:g.178928081_178928083delAGA	ENSP00000263967:p.Glu453del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LE452del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1513_1515	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		452			C2 PI3K-type.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.1356_1358delAGA	CCDS43171.1																																																																																				0.35	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	102						8	102	---	---	---	---	-	178928080	AGA	-	178928078	7	5	244	1	0	1	0	1	0	0	0	0	11913	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	10600	178928078	19094352	8	28518											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	9	5	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, 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.M1043V(22)		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)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	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						c.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97	87	91					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		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.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	97	0	0	0	1	0	7	97					G	178952072	A	G	178952072	3	3	244	1	0	0	0	0	1	0	0	0	11913	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	23994	178952072	19070358	9	28519											
LMLN	89782	broad.mit.edu	37	chr3	197751579	197751579	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atggacctcattccgtttgtCtaattcagaaatcagcattc	6	10	4	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	ENST00000330198.4	+	14	1598	c.1576C>G	c.(1576-1578)Cta>Gta	p.L526V	LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	526					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)		TTCCGTTTGTCTAATTCAGAA	0.393																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1576-1578)Cta>Gta		leishmanolysin-like (metallopeptidase M8 family)							142	134	137					3																	197751579		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197751579C>G	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.1576C>G	3.37:g.197751579C>G	ENSP00000328829:p.Leu526Val					LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	p.L526V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	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)	14	1598	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	526					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1576C>G	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	8.401	0.842053	0.16963	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.04	2.13	0.27403	.	0.078947	0.52532	D	0.000071	T	0.35970	0.0950	L	0.48362	1.52	0.41228	D	0.986551	B;B;B;B;B	0.15473	0.0;0.001;0.013;0.0;0.0	B;B;B;B;B	0.18263	0.004;0.012;0.021;0.006;0.003	T	0.10200	-1.0640	10	0.22706	T	0.39	-10.2206	8.1736	0.31268	0.0:0.7336:0.0:0.2664	.	526;474;563;555;511	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	V	511;526;563;474	ENSP00000418324:L511V;ENSP00000328829:L526V;ENSP00000410926:L563V;ENSP00000328611:L474V	ENSP00000328829:L526V	L	+	1	2	LMLN	199235976	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	0.743000	0.26231	0.257000	0.21650	0.650000	0.86243	CTA		0.393	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		12	91	0	0	0	1	0	12	91					G	197751579	C	G	197751579	3	3	244	1	0	0	0	0	1	0	0	0	8847	912	32	4	1745	4	LMLN	3	197751579	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	18799507	197751579	270851	10	28520											
CPEB2	132864	broad.mit.edu	37	chr4	15060817	15060817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattttcttcataggttcaaAtacgtccttggaatttaagt	6	6	3	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	ENST00000507071.1	+	9	1339	c.1252A>T	c.(1252-1254)Ata>Tta	p.I418L	RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L|CPEB2_ENST00000538197.1_Missense_Mutation_p.I863L			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	418	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATAGGTTCAAATACGTCCTTG	0.348																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2587-2589)Ata>Tta		cytoplasmic polyadenylation element binding protein 2							93	95	94					4																	15060817		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060817A>T	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1252A>T	4.37:g.15060817A>T	ENSP00000424084:p.Ile418Leu					CPEB2_ENST00000507071.1_Missense_Mutation_p.I418L|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L	p.I863L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			10	2587	+			418					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.2587A>T		.	.	.	.	.	.	.	.	.	.	A	29.5	5.010213	0.93346	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	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	5.67	5.67	0.87782	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.68728	2.09	0.80722	D	1	B;P;P;P;P;B	0.42827	0.045;0.549;0.686;0.791;0.761;0.071	P;D;D;D;D;P	0.81914	0.897;0.967;0.988;0.995;0.995;0.891	T	0.52726	-0.8537	10	0.87932	D	0	-9.9562	15.9034	0.79400	1.0:0.0:0.0:0.0	.	391;396;836;863;388;418	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	L	863;855;836;418;388;396;391;426;405;71	ENSP00000443985:I863L;ENSP00000437884:I855L;ENSP00000414270:I836L;ENSP00000424084:I418L;ENSP00000334058:I388L;ENSP00000371832:I396L;ENSP00000371838:I391L;ENSP00000259997:I426L;ENSP00000423890:I71L	ENSP00000259997:I426L	I	+	1	0	CPEB2	14669915	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.335000	0.96500	2.150000	0.67090	0.482000	0.46254	ATA		0.348	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		5	59	0	0	0	1	0	5	59					T	15060817	A	T	15060817	3	4	244	1	0	0	0	0	1	0	0	0	3801	101	4	5	2634	5	CPEB2	4	15060817	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08		15060817	176093459	11	28521											
UGT2B28	54490	broad.mit.edu	37	chr4	70155435	70155435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttaggtctcaatactcGgctgtataagtggatacccc	9	11	1	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	ENST00000335568.5	+	4	1057	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	352					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCAATACTCGGCTGTATAAG	0.363																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1054-1056)cGg>cAg		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						105	138	126					4																	70155435		1488	2705	4193	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70155435G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1055G>A	4.37:g.70155435G>A	ENSP00000334276:p.Arg352Gln					UGT2B28_ENST00000511240.1_Intron	p.R352Q	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			4	1057	+			352					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1055G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.046	-1.266107	0.01433	.	.	ENSG00000135226	ENST00000335568	T	0.62364	0.03	1.85	-1.41	0.08941	.	0.332186	0.25997	U	0.026969	T	0.44644	0.1303	L	0.53249	1.67	0.09310	N	1	B	0.28713	0.22	B	0.19666	0.026	T	0.20371	-1.0277	10	0.35671	T	0.21	.	2.7266	0.05215	0.4915:0.0:0.288:0.2205	.	352	Q9BY64	UDB28_HUMAN	Q	352	ENSP00000334276:R352Q	ENSP00000334276:R352Q	R	+	2	0	UGT2B28	70190024	0.000000	0.05858	0.077000	0.20336	0.008000	0.06430	-0.935000	0.03950	-0.269000	0.09298	-1.207000	0.01640	CGG		0.363	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		30	36	0	0	0	1	0	30	36					A	70155435	G	A	70155435	3	1	244	1	0	0	0	0	1	0	0	0	16957	1116	39	1	1069	1	UGT2B28	4	70155435	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	55094618	70155435	120998841	12	28522											
GK2	2712	broad.mit.edu	37	chr4	80328636	80328636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttttaattaggccaTagatctcagaagaactgaag	8	8	1	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	ENST00000358842.3	-	1	736	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		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						AATTAGGCCATAGATCTCAGA	0.423																																						ENST00000358842.3																			0				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						c.(718-720)tAt>tGt		glycerol kinase 2							68	72	71					4																	80328636		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328636T>C	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.719A>G	4.37:g.80328636T>C	ENSP00000351706:p.Tyr240Cys						p.Y240C	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	736	-			240					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.719A>G	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804196	0.31869	.	.	ENSG00000196475	ENST00000358842	T	0.48836	0.8	3.92	3.92	0.45320	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80513	-0.1349	10	0.87932	D	0	-6.2744	11.3785	0.49743	0.0:0.0:0.0:1.0	.	240	Q14410	GLPK2_HUMAN	C	240	ENSP00000351706:Y240C	ENSP00000351706:Y240C	Y	-	2	0	GK2	80547660	1.000000	0.71417	0.996000	0.52242	0.132000	0.20833	4.026000	0.57232	2.020000	0.59435	0.477000	0.44152	TAT		0.423	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		37	98	0	0	0	1	0	37	98					C	80328636	T	C	80328636	3	2	244	1	0	0	0	0	1	0	0	0	6421	1406	49	3	946	3	GK2	4	80328636	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	10173201	80328636	110825640	13	28523											
NUP155	9631	broad.mit.edu	37	chr5	37309323	37309323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttaacattctttcttttTcagtcttattttgaacttgt	3	9	4	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	ENST00000231498.3	-	24	2878	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.E833G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	892					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(2674-2676)gAa>gGa		nucleoporin 155kDa							117	109	112					5																	37309323		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37309323T>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2675A>G	5.37:g.37309323T>C	ENSP00000231498:p.Glu892Gly					NUP155_ENST00000381843.2_Missense_Mutation_p.E833G|NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000502533.1_5'UTR	p.E892G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		24	2878	-	all_lung(31;0.000137)		892					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2675A>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099533	0.76983	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.80653	-1.4;-1.38;-1.4	5.71	5.71	0.89125	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.092070	0.85682	D	0.000000	D	0.85331	0.5672	M	0.72353	2.195	0.52501	D	0.999957	P;B	0.37061	0.58;0.304	B;P	0.47705	0.353;0.555	D	0.84685	0.0719	10	0.41790	T	0.15	-3.7354	16.0044	0.80349	0.0:0.0:0.0:1.0	.	828;892	E9PF10;O75694	.;NU155_HUMAN	G	892;833;854;828	ENSP00000231498:E892G;ENSP00000371265:E833G;ENSP00000422019:E828G	ENSP00000231498:E892G	E	-	2	0	NUP155	37345080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.584000	0.82572	2.191000	0.70037	0.528000	0.53228	GAA		0.343	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		9	23	0	0	0	1	0	9	23					C	37309323	T	C	37309323	3	2	244	1	0	0	0	0	1	0	0	0	10756	1783	62	3	1548	3	NUP155	5	37309323	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		37309323	143605937	14	28524											
PIK3R1	5295	broad.mit.edu	37	chr5	67589147	67589149	+	In_Frame_Del	DEL	AAA	AAA	-													acaggaaagggggaaataacAaattaatcaaaatatttcat							TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	ENST00000521381.1	+	10	1751_1753	c.1135_1137delAAA	c.(1135-1137)aaadel	p.K379del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	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)	GGGAAATAACAAATTAATCAAAA	0.31			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(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						c.(1135-1137)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589147_67589149delAAA	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.1135_1137delAAA	5.37:g.67589147_67589149delAAA	ENSP00000428056:p.Lys379del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del	p.K379del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1751_1753	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	379			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1135_1137delAAA	CCDS3993.1																																																																																				0.31	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		11	69						11	69	---	---	---	---	-	67589149	AAA	-	67589147	7	5	244	1	0	1	0	1	0	0	0	0	11918	131	5	0	1299	0	PIK3R1	5	67589147	In_Frame_Del	DEL	AAA	TCGA-HT-7481-01A-11D-2024-08	30279824	67589147	113326113	15	28525											
RREB1	6239	broad.mit.edu	37	chr6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcccgccagtagctttgCggtggacttcaatgagcccc	13	13	1	1	rs375275893		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	ENST00000349384.6	+	10	2992	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_ENST00000379938.2_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	893					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)	p.A893V(1)		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)				AGTAGCTTTGCGGTGGACTTC	0.592																																						ENST00000379938.2																			1	Substitution - Missense(1)	p.A893V(1)	large_intestine(1)	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						c.(2677-2679)gCg>gTg		ras responsive element binding protein 1		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	59	58	59		2678,2678,2678,2678	5	0	6		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	893/1688,893/1743,893/1477,893/1688	7231010	1,13005	2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231010C>T	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.2678C>T	6.37:g.7231010C>T	ENSP00000305560:p.Ala893Val					RREB1_ENST00000349384.6_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V	p.A893V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3215	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	893					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2678C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038703	0.35989	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.85;2.88;2.76	4.98	4.98	0.66077	.	0.200924	0.33553	N	0.004788	T	0.04092	0.0114	L	0.44542	1.39	0.09310	N	0.999999	P;P;P	0.40931	0.579;0.669;0.733	B;B;B	0.31495	0.077;0.122;0.131	T	0.37267	-0.9713	10	0.23891	T	0.37	-5.7076	18.4639	0.90748	0.0:1.0:0.0:0.0	.	893;893;893	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	893	ENSP00000369265:A893V;ENSP00000369270:A893V;ENSP00000305560:A893V;ENSP00000335574:A893V	ENSP00000335574:A893V	A	+	2	0	RREB1	7176009	0.048000	0.20356	0.006000	0.13384	0.707000	0.40811	3.461000	0.53035	2.576000	0.86940	0.655000	0.94253	GCG		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	63	0	0	0	1	0	5	63					T	7231010	C	T	7231010	3	4	244	1	0	0	0	0	1	0	0	0	13679	768	27	1	2704	1	RREB1	6	7231010	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		7231010	163884057	16	28526											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199854	26199856	+	In_Frame_Del	DEL	AGA	AGA	-													aaaggcggtgaccaaggcgcAgaagaaggatggtaagaagc					rs199976373|rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	ENST00000359985.1	+	1	107_109	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(67-72)cag>c		histone cluster 1, H2bf																																				SO:0001651	inframe_deletion	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199854_26199856delAGA	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.68_70delAGA	6.37:g.26199857_26199859delAGA	ENSP00000353074:p.Lys25del						p.QK23del	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	107_109	+		all_hematologic(11;0.196)	23					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000359985.1	37	c.68_70delAGA	CCDS4592.1																																																																																				0.522	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		61	132						61	132	---	---	---	---	-	26199856	AGA	-	26199854	7	5	244	1	0	1	0	1	0	0	0	0	7145	188	7	0	70	0	HIST1H2BF	6	26199854	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	18968844	26199854	144915213	17	28527											
KIF6	221458	broad.mit.edu	37	chr6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacagtgatgaactttaCgcatatccgcgccaacctct	7	12	1	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	ENST00000287152.7	-	11	1350	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1255-1257)cGt>cAt		kinesin family member 6							110	107	108					6																	39513390		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513390C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1256G>A	6.37:g.39513390C>T	ENSP00000287152:p.Arg419His					KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H	p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			11	1350	-			419					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1256G>A	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326967|4.326967	0.81690|0.81690	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.73047|.	-0.69;-0.68;-0.53;-0.69;-0.71|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.67439|0.67439	0.2893|0.2893	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.962;0.975;0.994|.	T|T	0.67273|0.67273	-0.5712|-0.5712	9|5	0.56958|.	D|.	0.05|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	419;419;419;419|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	H|I	419;419;258;419;419|311	ENSP00000287152:R419H;ENSP00000362312:R419H;ENSP00000362309:R258H;ENSP00000362311:R419H;ENSP00000441435:R419H|.	ENSP00000287152:R419H|.	R|V	-|-	2|1	0|0	KIF6|KIF6	39621368|39621368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	4.095000|4.095000	0.57728|0.57728	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	CGT|GTA		0.358	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		27	65	0	0	0	1	0	27	65					T	39513390	C	T	39513390	3	4	244	1	0	0	0	0	1	0	0	0	8308	536	19	1	1240	1	KIF6	6	39513390	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	13313536	39513390	131601677	18	28528											
DLK2	65989	broad.mit.edu	37	chr6	43418774	43418774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctctctggcatgggcGgctggcacagtcatccaggt	14	14	2	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	ENST00000357338.3	-	6	1355	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DLK2_ENST00000372488.3_Missense_Mutation_p.R219C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C|DLK2_ENST00000414245.1_Missense_Mutation_p.R213C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	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)			TGGCATGGGCGGCTGGCACAG	0.622																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(655-657)Cgc>Tgc		delta-like 2 homolog (Drosophila)							60	62	61					6																	43418774		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418774G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.655C>T	6.37:g.43418774G>A	ENSP00000349893:p.Arg219Cys					DLK2_ENST00000414245.1_Missense_Mutation_p.R213C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C|DLK2_ENST00000372488.3_Missense_Mutation_p.R219C	p.R219C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1355	-	all_lung(25;0.00536)		219			EGF-like 6; calcium-binding (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.655C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984584	0.74474	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.94	4.94	0.65067	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.328631	0.33534	N	0.004806	D	0.83672	0.5305	L	0.56199	1.76	0.80722	D	1	D	0.58970	0.984	P	0.45232	0.474	D	0.85970	0.1476	10	0.59425	D	0.04	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	219	Q6UY11	DLK2_HUMAN	C	213;219;219;213	ENSP00000361563:R213C;ENSP00000361566:R219C;ENSP00000349893:R219C;ENSP00000398906:R213C	ENSP00000349893:R219C	R	-	1	0	DLK2	43526752	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	6.526000	0.73799	2.454000	0.82982	0.462000	0.41574	CGC		0.622	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		5	67	0	0	0	1	0	5	67					A	43418774	G	A	43418774	3	1	244	1	0	0	0	0	1	0	0	0	4565	1116	39	1	500	1	DLK2	6	43418774	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	3905384	43418774	127696293	19	28529											
BACH2	60468	broad.mit.edu	37	chr6	90660233	90660235	+	In_Frame_Del	DEL	TCC	TCC	-													agggtgagcccccgctcccgTcctccgcgtaggaataggaa							TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	ENST00000257749.4	-	7	2297_2299	c.1590_1592delGGA	c.(1588-1593)gaggac>gac	p.E530del	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_In_Frame_Del_p.E530del|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_In_Frame_Del_p.E530del	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	530						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)		CCCGCTCCCGTCCTCCGCGTAGG	0.616																																						ENST00000257749.4																			0				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						c.(1588-1593)gac>ga		BTB and CNC homology 1, basic leucine zipper transcription factor 2																																				SO:0001651	inframe_deletion	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660233_90660235delTCC	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.1590_1592delGGA	6.37:g.90660236_90660238delTCC	ENSP00000257749:p.Glu530del					RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_In_Frame_Del_p.ED530del|BACH2_ENST00000343122.3_In_Frame_Del_p.ED530del	p.ED530del	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2297_2299	-		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)	530					E1P518|Q59H70|Q5T793|Q9NTS5	In_Frame_Del	DEL	ENST00000257749.4	37	c.1590_1592delGGA	CCDS5026.1																																																																																				0.616	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		19	63						19	63	---	---	---	---	-	90660235	TCC	-	90660233	7	5	244	1	0	1	0	1	0	0	0	0	1284	1667	58	0	945	0	BACH2	6	90660233	In_Frame_Del	DEL	TCC	TCGA-HT-7481-01A-11D-2024-08	47241459	90660233	80454834	20	28530											
FRK	2444	broad.mit.edu	37	chr6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaggcaacctgtgccGccatgtctacctgttgagtc	10	13	1	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AACCTGTGCCGCCATGTCTAC	0.418																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1003-1005)gCg>gTg		fyn-related kinase							78	78	78					6																	116265543		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116265543G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1004C>T	6.37:g.116265543G>A	ENSP00000476145:p.Ala335Val					FRK_ENST00000538210.1_Missense_Mutation_p.A193V	p.A335V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	6	1450	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	335			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1004C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422237	0.62622	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.37235	1.21;1.21	5.6	5.6	0.85130	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	0.000031	T	0.56615	0.1997	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61312	-0.7088	10	0.87932	D	0	.	19.5995	0.95554	0.0:0.0:1.0:0.0	.	335	P42685	FRK_HUMAN	V	335;193	ENSP00000357615:A335V;ENSP00000443075:A193V	ENSP00000357615:A335V	A	-	2	0	FRK	116372236	1.000000	0.71417	0.947000	0.38551	0.055000	0.15305	6.530000	0.73816	2.610000	0.88304	0.591000	0.81541	GCG		0.418	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		4	65	0	0	0	1	0	4	65					A	116265543	G	A	116265543	3	1	244	1	0	0	0	0	1	0	0	0	6048	1087	38	1	525	1	FRK	6	116265543	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	25605310	116265543	54849524	21	28531											
MAP3K4	4216	broad.mit.edu	37	chr6	161470895	161470895	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctatttatagaccatttgtaGacaaagcactgaagcagatg	8	7	0	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	ENST00000392142.4	+	3	1739	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	531					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCATTTGTAGACAAAGCACT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1591-1593)Gac>Cac		mitogen-activated protein kinase kinase kinase 4							75	79	78					6																	161470895		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470895G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1591G>C	6.37:g.161470895G>C	ENSP00000375986:p.Asp531His					MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H	p.D531H	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1739	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	531					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1591G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232378	0.79688	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.13469	-1.0508	10	0.72032	D	0.01	-36.7078	19.5993	0.95554	0.0:0.0:1.0:0.0	.	531;531	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	H	531	ENSP00000355886:D531H;ENSP00000375986:D531H;ENSP00000355887:D531H;ENSP00000297332:D531H	ENSP00000297332:D531H	D	+	1	0	MAP3K4	161390885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.441000	0.97557	2.628000	0.89032	0.655000	0.94253	GAC		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			13	94	0	0	0	1	0	13	94					C	161470895	G	C	161470895	3	2	244	1	0	0	0	0	1	0	0	0	9252	942	33	4	1601	4	MAP3K4	6	161470895	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	45205352	161470895	9644172	22	28532											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734856	37734856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgaccgaaggtgtcgtGctagggatgatggcggaggc	18	8	0	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	ENST00000330843.4	-	2	597	c.585C>T	c.(583-585)agC>agT	p.S195S	RAB11FIP1_ENST00000287263.4_Silent_p.S195S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S|RAB11FIP1_ENST00000522727.1_Silent_p.S47S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	195					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)			AAGGTGTCGTGCTAGGGATGA	0.448																																						ENST00000330843.4																			0				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						c.(583-585)agC>agT		RAB11 family interacting protein 1 (class I)							295	268	278					8																	37734856		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37734856G>A	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.585C>T	8.37:g.37734856G>A						RAB11FIP1_ENST00000287263.4_Silent_p.S195S|RAB11FIP1_ENST00000522727.1_Silent_p.S47S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S	p.S195S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	597	-		Lung NSC(58;0.118)|all_lung(54;0.195)	195					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.585C>T	CCDS34882.1																																																																																				0.448	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		13	163	0	0	0	1	0	13	163					A	37734856	G	A	37734856	2	1	244	1	0	0	0	0	0	0	0	1	12893	1310	46	2		2	RAB11FIP1	8	37734856	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		37734856	108629166	23	28533											
NOTCH1	4851	broad.mit.edu	37	chr9	139413067	139413069	+	In_Frame_Del	DEL	AGT	AGT	-													gcggccatggggacactcgcAgtagaaggaggccacacggt							TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	ENST00000277541.6	-	6	1148_1150	c.1073_1075delACT	c.(1072-1077)tactgc>tgc	p.Y358del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	358	EGF-like 9; 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)		GGACACTCGCAGTAGAAGGAGGC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(1072-1077)tgc>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413067_139413069delAGT	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.1073_1075delACT	9.37:g.139413067_139413069delAGT	ENSP00000277541:p.Tyr358del	HNSCC(8;0.001)					p.YC358del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1148_1150	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	358			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1073_1075delACT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	29						7	29	---	---	---	---	-	139413069	AGT	-	139413067	7	5	244	1	0	1	0	1	0	0	0	0	10547	188	7	0	6708	0	NOTCH1	9	139413067	In_Frame_Del	DEL	AGT	TCGA-HT-7481-01A-11D-2024-08		139413067	1800364	24	28534											
CD163	9332	broad.mit.edu	37	chr12	7635248	7635248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcaaacctgcaagccGctgtctctgtcttcgctttt	8	13	3	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	ENST00000359156.4	-	14	3440	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	CD163_ENST00000432237.2_Missense_Mutation_p.R1080W|CD163_ENST00000396620.3_Missense_Mutation_p.R1113W|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.R1068W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1080					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCTGCAAGCCGCTGTCTCTGT	0.428																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3238-3240)Cgg>Tgg		CD163 molecule							136	150	145					12																	7635248		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635248G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3238C>T	12.37:g.7635248G>A	ENSP00000352071:p.Arg1080Trp					CD163_ENST00000541972.1_Missense_Mutation_p.R1068W|CD163_ENST00000432237.2_Missense_Mutation_p.R1080W|CD163_ENST00000396620.3_Missense_Mutation_p.R1113W	p.R1080W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3440	-			1080					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3238C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561979	0.45590	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01599	4.74;4.76;4.75;4.75	4.32	2.45	0.29901	.	1.509870	0.03909	N	0.281544	T	0.02727	0.0082	L	0.29908	0.895	0.09310	N	1	P;B;D	0.69078	0.926;0.003;0.997	B;B;P	0.47528	0.226;0.005;0.549	T	0.43114	-0.9411	10	0.66056	D	0.02	.	5.31	0.15825	0.1032:0.0:0.6972:0.1997	.	1113;1080;1080	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	W	1080;1068;1113;1080	ENSP00000352071:R1080W;ENSP00000444071:R1068W;ENSP00000379863:R1113W;ENSP00000403885:R1080W	ENSP00000352071:R1080W	R	-	1	2	CD163	7526515	0.519000	0.26242	0.036000	0.18154	0.026000	0.11368	0.665000	0.25083	0.744000	0.32741	0.561000	0.74099	CGG		0.428	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		52	113	0	0	0	1	0	52	113					A	7635248	G	A	7635248	3	1	244	1	0	0	0	0	1	0	0	0	2967	1086	38	1	244	1	CD163	12	7635248	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		7635248	126216647	25	28535											
KERA	11081	broad.mit.edu	37	chr12	91449544	91449544	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttgttgttctgtaggTcaagaagggtcaggttctcc	11	7	4	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	ENST00000266719.3	-	2	762	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	172					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGTAGGTCAAGAAGGGT	0.413																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(514-516)gAc>gGc		keratocan							118	112	114					12																	91449544		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449544T>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.515A>G	12.37:g.91449544T>C	ENSP00000266719:p.Asp172Gly						p.D172G	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	762	-			172						Missense_Mutation	SNP	ENST00000266719.3	37	c.515A>G	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241060	0.79912	.	.	ENSG00000139330	ENST00000266719	T	0.61510	0.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73506	-0.3961	10	0.35671	T	0.21	-29.9198	16.6438	0.85155	0.0:0.0:0.0:1.0	.	172	O60938	KERA_HUMAN	G	172	ENSP00000266719:D172G	ENSP00000266719:D172G	D	-	2	0	KERA	89973675	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.698000	0.84413	2.333000	0.79357	0.533000	0.62120	GAC		0.413	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		49	149	0	0	0	1	0	49	149					C	91449544	T	C	91449544	3	2	244	1	0	0	0	0	1	0	0	0	8143	1667	58	3	551	3	KERA	12	91449544	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	83814296	91449544	42402351	26	28536											
FSCB	84075	broad.mit.edu	37	chr14	44975038	44975038	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttttgtgctgagggagaccGaatttcaccaagaagctcta	10	9	2	3	rs200714637		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	ENST00000340446.4	-	1	1444	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGGAGACCGAATTTCACCA	0.532																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1153-1155)Cgg>Agg		fibrous sheath CABYR binding protein							83	95	91					14																	44975038		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975038G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1153C>A	14.37:g.44975038G>T							p.R385R	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1444	-			385			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1153C>A	CCDS9679.1																																																																																				0.532	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		12	137	1	0	0.00010058	1	0.000111513	12	137					T	44975038	G	T	44975038	2	4	244	1	0	0	0	0	0	0	0	1	6066	1057	37	4		4	FSCB	14	44975038	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		44975038	62374502	27	28537											
NETO1	81832	broad.mit.edu	37	chr18	70417415	70417415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtttcatgacaaggaTatttcttctgttcatgggtg	11	6	4	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	ENST00000327305.6	-	9	2080	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	NETO1_ENST00000299430.2_Missense_Mutation_p.I474V|NETO1_ENST00000583169.1_Missense_Mutation_p.I475V|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	475					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)		ATGACAAGGATATTTCTTCTG	0.507																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1423-1425)Atc>Gtc		neuropilin (NRP) and tolloid (TLL)-like 1							199	174	182					18																	70417415		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417415T>C	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.1423A>G	18.37:g.70417415T>C	ENSP00000313088:p.Ile475Val					NETO1_ENST00000583169.1_Missense_Mutation_p.I475V|NETO1_ENST00000299430.2_Missense_Mutation_p.I474V	p.I475V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2080	-		Esophageal squamous(42;0.129)	475					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1423A>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.831029	0.32329	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.20881	2.05;2.04	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000010	T	0.33527	0.0866	L	0.43152	1.355	0.80722	D	1	P;B	0.46327	0.876;0.045	D;B	0.64595	0.927;0.008	T	0.04708	-1.0932	10	0.02654	T	1	-16.1049	16.0791	0.80989	0.0:0.0:0.0:1.0	.	474;475	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	V	475;474	ENSP00000313088:I475V;ENSP00000299430:I474V	ENSP00000299430:I474V	I	-	1	0	NETO1	68568395	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.463000	0.80869	2.200000	0.70718	0.377000	0.23210	ATC		0.507	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		13	45	0	0	0	1	0	13	45					C	70417415	T	C	70417415	3	2	244	1	0	0	0	0	1	0	0	0	10339	1406	49	3	186	3	NETO1	18	70417415	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		70417415	7659833	28	28538											
NLRP2	55655	broad.mit.edu	37	chr19	55494669	55494669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctgggacattggggacGtacagaagctgctttccgga	13	10	0	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	ENST00000543010.1	+	6	1746	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	535					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.V535I(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557																																						ENST00000543010.1																			1	Substitution - Missense(1)	p.V535I(1)	large_intestine(1)	large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1603-1605)Gta>Ata		NLR family, pyrin domain containing 2							91	83	86					19																	55494669		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494669G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1603G>A	19.37:g.55494669G>A	ENSP00000445135:p.Val535Ile					NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I	p.V535I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1746	+			535					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1603G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	6.382	0.438555	0.12104	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75050	-0.88;-0.81;-0.82;-0.88;-0.82;-0.9;-0.81;-0.87	1.79	-0.529	0.11901	.	1.199260	0.06581	N	0.750327	T	0.59307	0.2184	L	0.45051	1.395	0.09310	N	1	P;P;P;P;P	0.50156	0.932;0.82;0.726;0.82;0.726	B;B;B;B;B	0.41894	0.252;0.369;0.204;0.369;0.204	T	0.48747	-0.9008	10	0.06891	T	0.86	.	4.1006	0.10012	0.4527:0.0:0.5473:0.0	.	512;513;532;511;535	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	I	535;511;513;535;513;512;511;532	ENSP00000445135:V535I;ENSP00000375601:V511I;ENSP00000344074:V513I;ENSP00000409370:V535I;ENSP00000440601:V513I;ENSP00000402474:V512I;ENSP00000441133:V511I;ENSP00000263437:V532I	ENSP00000263437:V532I	V	+	1	0	NLRP2	60186481	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.131000	0.10482	-0.072000	0.12864	-0.224000	0.12420	GTA		0.557	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		4	48	0	0	0	1	0	4	48					A	55494669	G	A	55494669	3	1	244	1	0	0	0	0	1	0	0	0	10477	1145	40	1	1621	1	NLRP2	19	55494669	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		55494669	3634314	29	28539											
FLRT3	23767	broad.mit.edu	37	chr20	14306271	14306271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggttactactgctttcacTgtgattgtttttgtacagat	8	7	1	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	ENST00000378053.3	-	2	2138	c.1882A>G	c.(1882-1884)Agt>Ggt	p.S628G	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	628					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1882-1884)Agt>Ggt		fibronectin leucine rich transmembrane protein 3							274	235	248					20																	14306271		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306271T>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1882A>G	20.37:g.14306271T>C	ENSP00000367292:p.Ser628Gly					MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G|MACROD2_ENST00000310348.4_Intron	p.S628G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2138	-		Colorectal(1;0.0464)	628					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1882A>G	CCDS13121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.91|10.91	1.483591|1.483591	0.26598|0.26598	.|.	.|.	ENSG00000125848|ENSG00000125848	ENST00000541882|ENST00000378053;ENST00000341420	.|T;T	.|0.59638	.|0.25;0.25	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.126959	.|0.64402	.|D	.|0.000010	T|T	0.46210|0.46210	0.1381|0.1381	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B	.|0.31435	.|0.323	.|B	.|0.27380	.|0.079	T|T	0.46898|0.46898	-0.9158|-0.9158	6|10	0.72032|0.62326	D|D	0.01|0.03	-9.3565|-9.3565	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|628	.|Q9NZU0	.|FLRT3_HUMAN	R|G	627|628	.|ENSP00000367292:S628G;ENSP00000339912:S628G	ENSP00000438619:Q627R|ENSP00000339912:S628G	Q|S	-|-	2|1	0|0	FLRT3|FLRT3	14254271|14254271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.289000|6.289000	0.72696|0.72696	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		18	135	0	0	0	1	0	18	135					C	14306271	T	C	14306271	3	2	244	1	0	0	0	0	1	0	0	0	5940	1580	55	3	71	3	FLRT3	20	14306271	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		14306271	48719249	30	28540											
WISP2	8839	broad.mit.edu	37	chr20	43348625	43348625	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccctggtgctggatggcTgtggctgctgccgggtatgt	16	10	0	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	ENST00000372868.2	+	3	491	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	50	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGATGGCTGTGGCTGCTG	0.697																																						ENST00000372868.2																			0				skin(1)	1						c.(148-150)Tgt>Ggt		WNT1 inducible signaling pathway protein 2							35	29	31					20																	43348625		2203	4298	6501	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43348625T>G	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.148T>G	20.37:g.43348625T>G	ENSP00000361959:p.Cys50Gly					RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA	p.C50G			O76076	WISP2_HUMAN			3	491	+		Myeloproliferative disorder(115;0.0122)	50			IGFBP N-terminal.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.148T>G	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382240	0.82792	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	D;D;D	0.81499	-1.5;-1.5;-1.5	5.41	5.41	0.78517	Insulin-like growth factor-binding protein, IGFBP (3);Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93167	0.6563	10	0.87932	D	0	-17.4627	15.5109	0.75782	0.0:0.0:0.0:1.0	.	50;50	Q6PEG3;O76076	.;WISP2_HUMAN	G	50	ENSP00000361959:C50G;ENSP00000361956:C50G;ENSP00000190983:C50G	ENSP00000190983:C50G	C	+	1	0	WISP2	42782039	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.840000	0.86819	2.057000	0.61298	0.524000	0.50904	TGT		0.697	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		5	15	0	0	0	1	0	5	15					G	43348625	T	G	43348625	3	3	244	1	0	0	0	0	1	0	0	0	17370	1580	55	5	154	5	WISP2	20	43348625	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	29042354	43348625	19676895	31	28541											
TSHZ2	128553	broad.mit.edu	37	chr20	51873020	51873020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatttgtgagcaaacatgCggtaaaactccacctaagca	8	10	0	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	ENST00000371497.5	+	2	3910	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					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)			AGCAAACATGCGGTAAAACTC	0.468																																						ENST00000371497.5																			0				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						c.(3022-3024)gCg>gTg		teashirt zinc finger homeobox 2							119	101	107					20																	51873020		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873020C>T	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.3023C>T	20.37:g.51873020C>T	ENSP00000360552:p.Ala1008Val					TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|RP4-678D15.1_ENST00000606932.1_RNA	p.A1008V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3910	+			1008					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3023C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820238	0.90873	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.28666	1.6;1.6	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64676	-0.6351	10	0.87932	D	0	-14.5615	19.8075	0.96536	0.0:1.0:0.0:0.0	.	1008	Q9NRE2	TSH2_HUMAN	V	1008;1005	ENSP00000360552:A1008V;ENSP00000333114:A1005V	ENSP00000333114:A1005V	A	+	2	0	TSHZ2	51306427	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.482000	0.81143	2.681000	0.91329	0.637000	0.83480	GCG		0.468	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		19	59	0	0	0	1	0	19	59					T	51873020	C	T	51873020	3	4	244	1	0	0	0	0	1	0	0	0	16621	768	27	1	3029	1	TSHZ2	20	51873020	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	8524395	51873020	11152500	32	28542											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		4	7						4	7	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	244	1	0	1	1	0	0	0	0	0	6190	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-HT-7481-01A-11D-2024-08		49208295	106062265	33	28543											
KIAA1210	57481	broad.mit.edu	37	chrX	118222475	118222475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctggaaggcagctgctgCataaaatcattctgctcttc	8	11	4	0	rs200561223		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:118222475C>A	ENST00000402510.2	-	11	2717	c.2718G>T	c.(2716-2718)atG>atT	p.M906I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	906										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						GCAGCTGCTGCATAAAATCAT	0.483																																						ENST00000402510.2																			0				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						c.(2716-2718)atG>atT		KIAA1210		C	ILE/MET	0,3288		0,0,0,1359,570	50	46	47		2718	-3.4	0	X		47	2,6462		0,1,1,2334,1793	yes	missense	KIAA1210	NM_020721.1	10	0,1,1,3693,2363	AA,AC,A,CC,C		0.0309,0.0,0.0205	benign	906/1710	118222475	2,9750	1929	4129	6058	SO:0001583	missense	57481							g.chrX:118222475C>A	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.2718G>T	X.37:g.118222475C>A	ENSP00000384670:p.Met906Ile						p.M906I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2717	-			906					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2718G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.428|5.428	0.264173|0.264173	0.10294|0.10294	0.0|0.0	3.09E-4|3.09E-4	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10763	.|2.84	4.25|4.25	-3.4|-3.4	0.04853|0.04853	.|.	.|.	.|.	.|.	.|.	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.39901|0.39901	-0.9591|-0.9591	5|9	.|0.27082	.|T	.|0.32	.|.	2.2596|2.2596	0.04063|0.04063	0.1145:0.322:0.1389:0.4246|0.1145:0.322:0.1389:0.4246	.|.	.|906	.|Q9ULL0	.|K1210_HUMAN	S|I	313|906	.|ENSP00000384670:M906I	.|ENSP00000384670:M906I	A|M	-|-	1|3	0|0	KIAA1210|RP13-347D8.6	118106503|118106503	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.705000|-1.705000	0.01896|0.01896	-1.368000|-1.368000	0.02149|0.02149	-0.905000|-0.905000	0.02835|0.02835	GCA|ATG		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		3	23	1	0	1	1	1	3	23					A	118222475	C	A	118222475	3	1	244	1	0	0	0	0	1	0	0	0	8214	710	25	4	2427	4	KIAA1210	23	118222475	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	69014180	118222475	37048085	34	28544											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908011	12908011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttatgaacagagcagccCgcaattttgccatacttgga	8	12	0	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr1:12908011C>T	ENST00000317869.6	-	2	357	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A44A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGAGCAGCCCGCAATTTTGC	0.478																																						ENST00000317869.6																			1	Substitution - coding silent(1)	p.A44A(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(130-132)gcG>gcA		heterogeneous nuclear ribonucleoprotein C-like 1							117	112	114					1																	12908011		2203	4300	6503	SO:0001819	synonymous_variant	343069							g.chr1:12908011C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.132G>A	1.37:g.12908011C>T							p.A44A	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	357	-								B2RP44	Silent	SNP	ENST00000317869.6	37	c.132G>A	CCDS30591.1																																																																																				0.478	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		15	130	0	0	0	0.500413	0	15	130					T	12908011	C	T	12908011	2	4	245	1	0	0	0	0	0	0	0	1	7263	639	23	1		1	HNRNPCL1	1	12908011	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		12908011	236342610	1	28545											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	41	0	0	0	0.539581	0	17	41					C	209113113	G	C	209113113	3	2	245	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		209113113	34086260	2	28546											
DPPA4	55211	broad.mit.edu	37	chr3	109049418	109049418	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctggtgtcctcgccctgGctgaaattctcgcccaggag	11	15	2	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:109049418G>C	ENST00000335658.6	-	5	686	c.632C>G	c.(631-633)gCc>gGc	p.A211G	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	211					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTCGCCCTGGCTGAAATTCT	0.522																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(631-633)gCc>gGc		developmental pluripotency associated 4							53	56	55					3																	109049418		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049418G>C	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.632C>G	3.37:g.109049418G>C	ENSP00000335306:p.Ala211Gly					DPPA4_ENST00000478791.1_5'UTR	p.A211G	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			5	686	-			211					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.632C>G	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721680	0.30503	.	.	ENSG00000121570	ENST00000335658	T	0.58506	0.33	3.81	2.93	0.34026	.	0.552015	0.16352	N	0.218193	T	0.58793	0.2147	M	0.78637	2.42	0.09310	N	1	B;B	0.33964	0.434;0.275	B;B	0.38378	0.272;0.167	T	0.52895	-0.8514	9	.	.	.	-7.4432	9.1486	0.36948	0.0:0.266:0.734:0.0	.	201;211	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	G	211	ENSP00000335306:A211G	.	A	-	2	0	DPPA4	110532108	0.002000	0.14202	0.008000	0.14137	0.066000	0.16364	1.245000	0.32790	1.174000	0.42811	0.491000	0.48974	GCC		0.522	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		5	53	0	0	0	0.184627	0	5	53					C	109049418	G	C	109049418	3	2	245	1	0	0	0	0	1	0	0	0	4736	1203	42	4	294	4	DPPA4	3	109049418	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		109049418	88973012	3	28547											
PLXNA1	5361	broad.mit.edu	37	chr3	126732904	126732904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcgacctgccagtgaaCctgtcagtcgtgtggaacgg	14	11	2	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:126732904C>G	ENST00000393409.2	+	10	2355	c.2355C>G	c.(2353-2355)aaC>aaG	p.N785K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.N762K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	785					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)		TGCCAGTGAACCTGTCAGTCG	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2284-2286)aaC>aaG		plexin A1							150	150	150					3																	126732904		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126732904C>G	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.2355C>G	3.37:g.126732904C>G	ENSP00000377061:p.Asn785Lys					PLXNA1_ENST00000393409.2_Missense_Mutation_p.N785K	p.N762K			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	10	2355	+			785						Missense_Mutation	SNP	ENST00000393409.2	37	c.2286C>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	6.364	0.435223	0.12045	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.52295	0.67;0.67	2.87	1.98	0.26296	.	0.250041	0.32488	N	0.006031	T	0.26991	0.0661	N	0.14661	0.345	0.37075	D	0.898712	B	0.02656	0.0	B	0.09377	0.004	T	0.11690	-1.0577	10	0.25106	T	0.35	.	10.097	0.42482	0.0:0.8941:0.0:0.1059	.	785	Q9UIW2	PLXA1_HUMAN	K	785;762	ENSP00000377061:N785K;ENSP00000251772:N762K	ENSP00000251772:N762K	N	+	3	2	PLXNA1	128215594	0.998000	0.40836	0.996000	0.52242	0.450000	0.32258	1.371000	0.34250	0.770000	0.33336	0.491000	0.48974	AAC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		24	101	0	0	0	0.693898	0	24	101					G	126732904	C	G	126732904	3	3	245	1	0	0	0	0	1	0	0	0	12119	506	18	4	2393	4	PLXNA1	3	126732904	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	17683486	126732904	71289526	4	28548											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611243	62611243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttaagtaagataattcacGtagttgttcctgacgaattt	7	5	1	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:62611243G>A	ENST00000281156.4	-	5	795	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GATAATTCACGTAGTTGTTCC	0.418																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(517-519)Cgt>Tgt		KH domain containing, RNA binding, signal transduction associated 2							107	105	106					6																	62611243		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611243G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.517C>T	6.37:g.62611243G>A	ENSP00000281156:p.Arg173Cys						p.R173C	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	795	-			173					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.517C>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219636	0.79464	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.17213	2.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	P	0.53146	0.719	T	0.00271	-1.1859	10	0.72032	D	0.01	-2.8997	13.6865	0.62520	0.0:0.0:0.7494:0.2506	.	173	Q5VWX1	KHDR2_HUMAN	C	173	ENSP00000281156:R173C	ENSP00000281156:R173C	R	-	1	0	KHDRBS2	62669202	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	4.124000	0.57924	2.941000	0.99782	0.655000	0.94253	CGT		0.418	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		17	24	0	0	0	0.557998	0	17	24					A	62611243	G	A	62611243	3	1	245	1	0	0	0	0	1	0	0	0	8147	1145	40	1	552	1	KHDRBS2	6	62611243	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		62611243	108503824	5	28549											
SLC2A12	154091	broad.mit.edu	37	chr6	134350799	134350799	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatgatcccaagttcataaCccaccaggaggccactgaca	8	13	1	3			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:134350799C>G	ENST00000275230.5	-	2	319	c.164G>C	c.(163-165)gGt>gCt	p.G55A		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	55					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGTTCATAACCCACCAGGAG	0.517																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(163-165)gGt>gCt		solute carrier family 2 (facilitated glucose transporter), member 12							53	49	51					6																	134350799		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350799C>G	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.164G>C	6.37:g.134350799C>G	ENSP00000275230:p.Gly55Ala						p.G55A	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	319	-	Breast(56;0.214)|Colorectal(23;0.221)		55					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.164G>C	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170426	0.78452	.	.	ENSG00000146411	ENST00000275230	D	0.86297	-2.1	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96680	0.9503	10	0.87932	D	0	-11.5243	18.6967	0.91603	0.0:1.0:0.0:0.0	.	55	Q8TD20	GTR12_HUMAN	A	55	ENSP00000275230:G55A	ENSP00000275230:G55A	G	-	2	0	SLC2A12	134392492	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.427000	0.82271	0.460000	0.39030	GGT		0.517	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			6	32	0	0	0	0.217242	0	6	32					G	134350799	C	G	134350799	3	3	245	1	0	0	0	0	1	0	0	0	14541	507	18	4	1705	4	SLC2A12	6	134350799	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	71739556	134350799	36764268	6	28550											
INTS1	26173	broad.mit.edu	37	chr7	1538970	1538970	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtctggctgtcctcctcctCcgtgagggaggggtgtgggc	17	12	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:1538970C>A	ENST00000404767.3	-	7	956	c.871G>T	c.(871-873)Gag>Tag	p.E291*	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Nonsense_Mutation_p.E419*	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	291					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)		TCCTCCTCCTCCGTGAGGGAG	0.697																																						ENST00000389470.4																			0				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						c.(1255-1257)Gag>Tag		integrator complex subunit 1							63	73	70					7																	1538970		2067	4199	6266	SO:0001587	stop_gained	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538970C>A	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.871G>T	7.37:g.1538970C>A	ENSP00000385722:p.Glu291*					INTS1_ENST00000404767.3_Nonsense_Mutation_p.E291*	p.E419*			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	8	1254	-		Ovarian(82;0.0253)	291					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Nonsense_Mutation	SNP	ENST00000404767.3	37	c.1255G>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	37	6.335919	0.97485	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	.	.	.	4.85	4.85	0.62838	.	0.116753	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.9689	0.89107	0.0:1.0:0.0:0.0	.	.	.	.	X	291;419	.	ENSP00000374121:E419X	E	-	1	0	INTS1	1505496	1.000000	0.71417	0.940000	0.37924	0.845000	0.48019	7.318000	0.79029	2.229000	0.72834	0.563000	0.77884	GAG		0.697	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	88	1	0	3.59834e-05	0.217242	4.39797e-05	5	88					A	1538970	C	A	1538970	4	1	245	1	0	0	0	0	0	1	0	0	7775	864	30	4	5869	4	INTS1	7	1538970	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		1538970	157599693	7	28551											
VPS41	27072	broad.mit.edu	37	chr7	38796519	38796519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggatcaactgaaaaacGtctttatgtcttaatgttaa	7	5	3	1	rs146405914		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:38796519G>A	ENST00000310301.4	-	19	1668	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	VPS41_ENST00000395969.2_Silent_p.D513D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	538					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGAAAAACGTCTTTATGTC	0.284													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17201	0.0		0.0	False		,,,				2504	0.0					ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1612-1614)gaC>gaT		vacuolar protein sorting 41 homolog (S. cerevisiae)		G	,	3,4401	4.2+/-10.8	0,3,2199	122	123	123		1614,1539	-2.8	1	7	dbSNP_134	123	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	VPS41	NM_014396.3,NM_080631.3	,	0,3,6497	AA,AG,GG		0.0,0.0681,0.0231	,	538/855,513/830	38796519	3,12997	2202	4298	6500	SO:0001819	synonymous_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38796519G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1614C>T	7.37:g.38796519G>A						VPS41_ENST00000395969.2_Silent_p.D513D	p.D538D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			19	1668	-			538					E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	c.1614C>T	CCDS5457.1																																																																																				0.284	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			9	20	0	0	0	0.335167	0	9	20					A	38796519	G	A	38796519	2	1	245	1	0	0	0	0	0	0	0	1	17207	1136	40	1		1	VPS41	7	38796519	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08	37257549	38796519	120342144	8	28552											
MET	4233	broad.mit.edu	37	chr7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccacgacaaatgtgtgCgatcggaggaatgcctgagc	15	9	0	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:116381017C>T	ENST00000318493.6	+	5	1826	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	MET_ENST00000436117.2_Nonsense_Mutation_p.R547*|MET_ENST00000397752.3_Nonsense_Mutation_p.R547*|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAATGTGTGCGATCGGAGGA	0.512			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1639-1641)Cga>Tga		met proto-oncogene							107	110	109					7																	116381017		1964	4141	6105	SO:0001587	stop_gained	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116381017C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1639C>T	7.37:g.116381017C>T	ENSP00000317272:p.Arg547*					MET_ENST00000318493.6_Nonsense_Mutation_p.R547*|MET_ENST00000436117.2_Nonsense_Mutation_p.R547*|MET_ENST00000495962.1_3'UTR	p.R547*	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		5	1839	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	547					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Nonsense_Mutation	SNP	ENST00000318493.6	37	c.1639C>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	36	5.766572	0.96914	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	.	.	.	5.85	2.71	0.32032	.	0.476137	0.23512	N	0.047400	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5194	0.33266	0.619:0.3012:0.0:0.0799	.	.	.	.	X	547	.	ENSP00000317272:R547X	R	+	1	2	MET	116168253	0.100000	0.21855	0.607000	0.28956	0.324000	0.28378	0.987000	0.29603	0.773000	0.33404	-0.321000	0.08615	CGA		0.512	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			20	78	0	0	0	0.608945	0	20	78					T	116381017	C	T	116381017	4	4	245	1	0	0	0	0	0	1	0	0	9485	760	27	1	1653	1	MET	7	116381017	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	77584498	116381017	42757646	9	28553											
AKR1B15	441282	broad.mit.edu	37	chr7	134256364	134256364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatttacagactggggaTgactttttccccaaagatga	9	8	0	4			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:134256364T>A	ENST00000457545.2	+	6	704	c.444T>A	c.(442-444)gaT>gaA	p.D148E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGACTGGGGATGACTTTTTCC	0.423																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(442-444)gaT>gaA		aldo-keto reductase family 1, member B15							128	137	134					7																	134256364		2202	4299	6501	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134256364T>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.444T>A	7.37:g.134256364T>A	ENSP00000389289:p.Asp148Glu					AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120E	p.D148E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			6	704	+			148					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.444T>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	0.028	-1.352100	0.01256	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.17528	2.27;2.27	3.04	-6.08	0.02151	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.06872	0.0175	N	0.25957	0.775	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42865	-0.9426	9	0.07030	T	0.85	.	2.4534	0.04524	0.1048:0.244:0.1581:0.4931	.	120;148	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	E	148;120	ENSP00000389289:D148E;ENSP00000397009:D120E	ENSP00000397009:D120E	D	+	3	2	AKR1B15	133906904	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-6.367000	0.00069	-1.210000	0.02627	-0.842000	0.03052	GAT		0.423	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			13	61	0	0	0	0.411799	0	13	61					A	134256364	T	A	134256364	3	1	245	1	0	0	0	0	1	0	0	0	468	1461	51	5	458	5	AKR1B15	7	134256364	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08	17875347	134256364	24882299	10	28554											
PRDM14	63978	broad.mit.edu	37	chr8	70981760	70981760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctgctcaggaagggCggcacttccctggggacgtg	17	11	1	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr8:70981760C>T	ENST00000276594.2	-	2	537	c.336G>A	c.(334-336)ccG>ccA	p.P112P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|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(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(334-336)ccG>ccA		PR domain containing 14							35	26	29					8																	70981760		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981760C>T	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.336G>A	8.37:g.70981760C>T							p.P112P	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	537	-	Breast(64;0.193)		112					Q86UX9	Silent	SNP	ENST00000276594.2	37	c.336G>A	CCDS6206.1																																																																																				0.632	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			8	19	0	0	0	0.27861	0	8	19					T	70981760	C	T	70981760	2	4	245	1	0	0	0	0	0	0	0	1	12455	755	27	1		1	PRDM14	8	70981760	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		70981760	75382262	11	28555											
KIAA1462	57608	broad.mit.edu	37	chr10	30316584	30316584	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaactttctaactgactgatCaaatcccagggacgacggct	8	11	2	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr10:30316584C>G	ENST00000375377.1	-	3	2594	c.2493G>C	c.(2491-2493)ttG>ttC	p.L831F		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	831					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						ACTGACTGATCAAATCCCAGG	0.557																																						ENST00000375377.1																			0				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						c.(2491-2493)ttG>ttC		KIAA1462							77	81	79					10																	30316584		1978	4166	6144	SO:0001583	missense	57608							g.chr10:30316584C>G	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.2493G>C	10.37:g.30316584C>G	ENSP00000364526:p.Leu831Phe						p.L831F	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2594	-			831					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.2493G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509509	0.64522	.	.	ENSG00000165757	ENST00000375377	T	0.17213	2.29	5.75	2.32	0.28847	.	0.135490	0.46758	D	0.000273	T	0.27832	0.0685	M	0.61703	1.905	0.31583	N	0.65485	D	0.71674	0.998	D	0.69142	0.962	T	0.30268	-0.9984	10	0.49607	T	0.09	-17.0897	0.936	0.01345	0.1815:0.3861:0.1793:0.2531	.	831	Q9P266	K1462_HUMAN	F	831	ENSP00000364526:L831F	ENSP00000364526:L831F	L	-	3	2	KIAA1462	30356590	0.976000	0.34144	0.788000	0.31933	0.973000	0.67179	0.122000	0.15687	0.704000	0.31869	0.655000	0.94253	TTG		0.557	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		14	93	0	0	0	0.479597	0	14	93					G	30316584	C	G	30316584	3	3	245	1	0	0	0	0	1	0	0	0	8234	825	29	4	1594	4	KIAA1462	10	30316584	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		30316584	105218163	12	28556											
BRSK2	9024	broad.mit.edu	37	chr11	1477653	1477653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccacgggggggccagccGtgttccagaagccggtcaag	17	12	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1477653G>A	ENST00000528841.1	+	17	2128	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M	BRSK2_ENST00000382179.1_Missense_Mutation_p.V628M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V604M|BRSK2_ENST00000528710.1_Missense_Mutation_p.V522M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V277M|BRSK2_ENST00000308219.9_Missense_Mutation_p.V582M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V582M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V604M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	582					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)		GGGGCCAGCCGTGTTCCAGAA	0.612																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(1744-1746)Gtg>Atg		BR serine/threonine kinase 2							24	31	29					11																	1477653		2048	4183	6231	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1477653G>A	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.1744G>A	11.37:g.1477653G>A	ENSP00000432000:p.Val582Met					BRSK2_ENST00000382179.1_Missense_Mutation_p.V628M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V604M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V604M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V277M|BRSK2_ENST00000528710.1_Missense_Mutation_p.V522M|BRSK2_ENST00000528841.1_Missense_Mutation_p.V582M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V582M	p.V582M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	17	2130	+		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)	582					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1744G>A	CCDS58107.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.08|16.08	3.022390|3.022390	0.54683|0.54683	.|.	.|.	ENSG00000174672|ENSG00000174672	ENST00000533606|ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	.|T;T;T;T;T;T;T;T	.|0.74002	.|-0.77;-0.79;-0.8;-0.79;-0.8;-0.6;-0.65;0.79	3.67|3.67	3.67|3.67	0.42095|0.42095	.|.	.|0.152719	.|0.42682	.|U	.|0.000666	T|T	0.76407|0.76407	0.3983|0.3983	L|L	0.35593|0.35593	1.075|1.075	0.53005|0.53005	D|D	0.999961|0.999961	.|D;P;D;B;B	.|0.76494	.|0.999;0.525;0.992;0.165;0.126	.|D;B;D;B;B	.|0.63877	.|0.919;0.071;0.919;0.029;0.02	T|T	0.72984|0.72984	-0.4125|-0.4125	5|10	.|0.21014	.|T	.|0.42	.|.	15.5722|15.5722	0.76349|0.76349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|604;628;582;582;582	.|Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.|.;.;.;BRSK2_HUMAN;.	H|M	120|582;582;604;582;604;522;628;277	.|ENSP00000310697:V582M;ENSP00000431152:V582M;ENSP00000310805:V604M;ENSP00000432000:V582M;ENSP00000433370:V604M;ENSP00000433235:V522M;ENSP00000371614:V628M;ENSP00000445168:V277M	.|ENSP00000310697:V582M	R|V	+|+	2|1	0|0	BRSK2|BRSK2	1434229|1434229	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.490000|0.490000	0.33462|0.33462	9.254000|9.254000	0.95512|0.95512	1.877000|1.877000	0.54381|0.54381	0.457000|0.457000	0.33378|0.33378	CGT|GTG		0.612	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		9	11	0	0	0	0.307466	0	9	11					A	1477653	G	A	1477653	3	1	245	1	0	0	0	0	1	0	0	0	1524	1145	40	1	1810	1	BRSK2	11	1477653	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		1477653	133528863	13	28557											
SLC6A15	55117	broad.mit.edu	37	chr12	85255483	85255483	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccataccgtccattgggAgcagtatccagagttgggga	12	9	0	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr12:85255483A>G	ENST00000266682.5	-	12	2662	c.2121T>C	c.(2119-2121)gcT>gcC	p.A707A	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Silent_p.A600A	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	707					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATTGGGAGCAGTATCCA	0.423																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2119-2121)gcT>gcC		solute carrier family 6 (neutral amino acid transporter), member 15							127	121	123					12																	85255483		2203	4300	6503	SO:0001819	synonymous_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255483A>G	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2121T>C	12.37:g.85255483A>G						SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Silent_p.A600A	p.A707A	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2662	-			707					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	c.2121T>C	CCDS9026.1																																																																																				0.423	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		9	118	0	0	0	0.307466	0	9	118					G	85255483	A	G	85255483	2	3	245	1	0	0	0	0	0	0	0	1	14678	291	11	3		3	SLC6A15	12	85255483	Silent	SNP	A	TCGA-HT-7482-01A-11D-2024-08		85255483	48596412	14	28558											
SRL	6345	broad.mit.edu	37	chr16	4242361	4242361	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaaatgggattgatgccGaagaagtccttataggcctc	12	8	0	2	rs377743040		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr16:4242361G>A	ENST00000399609.3	-	6	1227	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	SRL_ENST00000537996.1_Silent_p.F363F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	864	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GATTGATGCCGAAGAAGTCCT	0.493																																						ENST00000399609.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(1213-1215)ttC>ttT		sarcalumenin		A		0,3786		0,0,1893	71	74	73		1215	3.6	1	16		73	1,8261		0,1,4130	no	coding-synonymous	SRL	NM_001098814.1		0,1,6023	AA,AG,GG		0.0121,0.0,0.0083		405/474	4242361	1,12047	1893	4131	6024	SO:0001819	synonymous_variant	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242361G>A	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1215C>T	16.37:g.4242361G>A						SRL_ENST00000537996.1_Silent_p.F363F	p.F405F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN			6	1227	-			864			Acidic domain, probably binds calcium (By similarity).			Silent	SNP	ENST00000399609.3	37	c.1215C>T	CCDS42113.1																																																																																				0.493	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		25	39	0	0	0	0.654019	0	25	39					A	4242361	G	A	4242361	2	1	245	1	0	0	0	0	0	0	0	1	15149	1049	37	1		1	SRL	16	4242361	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08		4242361	86112392	15	28559											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	19	0	0	0	0.27861	0	8	19					A	7577121	G	A	7577121	3	1	245	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		7577121	73618089	16	28560											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	19	12	1	0	rs137852790|rs137852791|rs587782705		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7578475G>A	ENST00000269305.4	-	5	644	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000420246.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P152L	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGTGCCGGGCGGGGGTGTGGA	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(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	GRCh37	CM941327	TP53	M		c.(454-456)cCg>cTg	Other conserved DNA damage response genes	tumor protein p53							51	52	52					17																	7578475		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475G>A	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.455C>T	17.37:g.7578475G>A	ENSP00000269305:p.Pro152Leu	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)				TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L	p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.455C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796249	0.70567	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	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	5.59	5.59	0.84812	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	0.99904	0.9954	M	0.91768	3.24	0.80722	D	1	P;P;D;D;D;P;D	0.89917	0.95;0.94;1.0;0.991;0.99;0.951;0.968	P;P;D;P;D;P;B	0.79108	0.53;0.774;0.992;0.561;0.91;0.812;0.377	D	0.96418	0.9309	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152L;ENSP00000352610:P152L;ENSP00000269305:P152L;ENSP00000398846:P152L;ENSP00000391127:P152L;ENSP00000391478:P152L;ENSP00000425104:P20L;ENSP00000423862:P59L;ENSP00000424104:P152L	ENSP00000269305:P152L	P	-	2	0	TP53	7519200	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.901000	0.87382	2.804000	0.96469	0.655000	0.94253	CCG		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	27	0	0	0	0.500413	0	16	27					A	7578475	G	A	7578475	3	1	245	1	0	0	0	0	1	0	0	0	16378	1116	39	1	843	1	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08	1354	7578475	73616735	17	28561											
CSNK2A1	1457	broad.mit.edu	37	chr20	464702	464702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtccaaggggtgaagggGttggcactgaagaaatccct	16	7	0	3	rs61747403		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr20:464702G>A	ENST00000217244.3	-	14	1454	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_ENST00000400227.3_Intron|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.T224I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	360					axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGGTGAAGGGGTTGGCACTGA	0.547																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(1078-1080)aCc>aTc		casein kinase 2, alpha 1 polypeptide							30	28	28					20																	464702		2202	4300	6502	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:464702G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.1079C>T	20.37:g.464702G>A	ENSP00000217244:p.Thr360Ile					CSNK2A1_ENST00000400217.1_Missense_Mutation_p.T224I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I|CSNK2A1_ENST00000400227.3_Intron	p.T360I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		14	1454	-		Breast(17;0.231)	360					B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.1079C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	9.824	1.186681	0.21870	.	.	ENSG00000101266	ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T	0.63096	0.37;0.37;-0.02	5.29	5.29	0.74685	.	0.330353	0.37178	N	0.002217	T	0.48840	0.1522	N	0.19112	0.55	0.53688	D	0.999978	B	0.19583	0.037	B	0.14578	0.011	T	0.36212	-0.9757	10	0.25751	T	0.34	-23.4981	18.1087	0.89528	0.0:0.0:1.0:0.0	.	360	P68400	CSK21_HUMAN	I	360;360;360;224	ENSP00000339247:T360I;ENSP00000217244:T360I;ENSP00000383076:T224I	ENSP00000217244:T360I	T	-	2	0	CSNK2A1	412702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.856000	0.69518	2.749000	0.94314	0.655000	0.94253	ACC		0.547	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		3	14	0	0	0	0.115264	0	3	14					A	464702	G	A	464702	3	1	245	1	0	0	0	0	1	0	0	0	3957	1261	44	2	100	2	CSNK2A1	20	464702	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		464702	62560818	18	28562											
ATRX	546	broad.mit.edu	37	chrX	76849221	76849221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaagtaccatttTcccagaatgctctaaaacct	5	10	2	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019	Interaction with MECP2.				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						AGTACCATTTTCCCAGAATGC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6055-6057)Aaa>Gaa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						74	70	72					X																	76849221		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849221T>C	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.6055A>G	X.37:g.76849221T>C	ENSP00000362441:p.Lys2019Glu					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E	p.K2019E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			26	6269	-			2019					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6055A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558756	0.65538	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.96396	-4.0;-4.0	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.98049	0.9357	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.989	D	0.98965	1.0799	10	0.87932	D	0	-13.5885	14.5755	0.68243	0.0:0.0:0.0:1.0	.	1981;2019	P46100-4;P46100	.;ATRX_HUMAN	E	2019;1981	ENSP00000362441:K2019E;ENSP00000378967:K1981E	ENSP00000362441:K2019E	K	-	1	0	ATRX	76735877	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.646000	0.83445	1.823000	0.53134	0.430000	0.28490	AAA		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		19	52	0	0	0	0.608945	0	19	52					C	76849221	T	C	76849221	3	2	245	1	0	0	0	0	1	0	0	0	1208	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08		76849221	78421339	19	28563											
RBM41	55285	broad.mit.edu	37	chrX	106310757	106310757	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acccacaatttatatatattCtagctaccactaatttctgt	2	10	2	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:106310757C>A	ENST00000372479.3	-	7	1272	c.1242G>T	c.(1240-1242)taG>taT	p.*414Y	RBM41_ENST00000372487.1_Intron	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	0							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TATATATATTCTAGCTACCAC	0.378																																						ENST00000372479.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(1240-1242)taG>taT		RNA binding motif protein 41							165	168	167					X																	106310757		2203	4300	6503	SO:0001578	stop_lost	55285						nucleotide binding|RNA binding	g.chrX:106310757C>A	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1242G>T	X.37:g.106310757C>A						RBM41_ENST00000372487.1_Intron	p.*414Y	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN			7	1272	-			0					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Nonstop_Mutation	SNP	ENST00000372479.3	37	c.1242G>T	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708807	0.30322	.	.	ENSG00000089682	ENST00000372479	.	.	.	5.62	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.999801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2166	0.25963	0.0:0.6358:0.0:0.3642	.	.	.	.	Y	414	.	.	X	-	3	2	RBM41	106197413	0.876000	0.30132	0.330000	0.25442	0.908000	0.53690	0.343000	0.19944	0.495000	0.27882	0.513000	0.50165	TAG		0.378	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		41	143	1	0	9.85913e-13	0.847076	1.25135e-12	41	143					A	106310757	C	A	106310757	4	1	245	1	0	0	0	0	0	0	0	0	13135	924	32	4	12	4	RBM41	23	106310757	Nonstop_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	29461536	106310757	48959803	20	28564											
HIVEP3	59269	broad.mit.edu	37	chr1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtccgctgtcctattcGcccacacttgccaaagatga	10	14	0	2			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	ENST00000372583.1	-	4	2155	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	424	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)	p.R424*(1)		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)				TGTCCTATTCGCCCACACTTG	0.607																																						ENST00000372584.1																			1	Substitution - Nonsense(1)	p.R424*(1)	lung(1)	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						c.(1270-1272)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 3							115	98	104					1																	42049199		2203	4300	6503	SO:0001587	stop_gained	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049199G>A	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.1270C>T	1.37:g.42049199G>A	ENSP00000361664:p.Arg424*					HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.R424*	p.R424*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2284	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	424			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	c.1270C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542098	0.98348	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.15	-0.551	0.11822	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8347	17.7526	0.88439	0.0:0.0:0.1901:0.8099	.	.	.	.	X	424	.	ENSP00000247584:R424X	R	-	1	2	HIVEP3	41821786	0.382000	0.25148	0.681000	0.30009	0.022000	0.10575	0.900000	0.28431	-0.242000	0.09667	0.655000	0.94253	CGA		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		20	44	0	0	0	0.007413	0	20	44					A	42049199	G	A	42049199	4	1	246	1	0	0	0	0	0	1	0	0	7188	1095	38	1	5974	1	HIVEP3	1	42049199	Nonsense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		42049199	207201422	1	28565											
FLAD1	80308	broad.mit.edu	37	chr1	154965246	154965246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgtcccatactgtAtcctgtatgaccgagggtaa	10	9	0	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	ENST00000292180.3	+	6	1934	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|LENEP_ENST00000392487.1_5'Flank|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	538	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|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)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502																																						ENST00000292180.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(1612-1614)Atc>Gtc		flavin adenine dinucleotide synthetase 1							153	145	148					1																	154965246		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154965246A>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1612A>G	1.37:g.154965246A>G	ENSP00000292180:p.Ile538Val					FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V|FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron	p.I538V	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	1934	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		538			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1612A>G	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711463	0.30322	.	.	ENSG00000160688	ENST00000315144;ENST00000368432;ENST00000292180;ENST00000368428	.	.	.	4.64	2.32	0.28847	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.110918	0.64402	N	0.000013	T	0.19565	0.0470	N	0.12746	0.255	0.80722	D	1	D	0.55385	0.971	P	0.51055	0.657	T	0.02404	-1.1164	9	0.28530	T	0.3	-11.8709	8.5926	0.33697	0.839:0.0:0.161:0.0	.	538	Q8NFF5	FAD1_HUMAN	V	441;441;538;79	.	ENSP00000292180:I538V	I	+	1	0	FLAD1	153231870	0.932000	0.31603	0.995000	0.50966	0.884000	0.51177	1.322000	0.33689	0.314000	0.23086	0.358000	0.22013	ATC		0.502	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		38	58	0	0	0	0.00623	0	38	58					G	154965246	A	G	154965246	3	3	246	1	0	0	0	0	1	0	0	0	5920	449	16	3	1774	3	FLAD1	1	154965246	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08	112916047	154965246	94285375	2	28566											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	45	0	0	0	0.00333	0	24	45					C	209113113	G	C	209113113	3	2	246	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		209113113	34086260	3	28567											
KCNH8	131096	broad.mit.edu	37	chr3	19389439	19389439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcagtgacattgcagtgGagattctttttattataggt	10	6	2	2			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	ENST00000328405.2	+	5	1059	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	265					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATTGCAGTGGAGATTCTTTT	0.393																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(793-795)Gag>Aag		potassium voltage-gated channel, subfamily H (eag-related), member 8							112	108	109					3																	19389439		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19389439G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.793G>A	3.37:g.19389439G>A	ENSP00000328813:p.Glu265Lys					KCNH8_ENST00000475063.1_3'UTR	p.E265K	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			5	1059	+			265					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.793G>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219713	0.95139	.	.	ENSG00000183960	ENST00000328405	D	0.94576	-3.46	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.31566	U	0.007439	D	0.97247	0.9100	M	0.79926	2.475	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.67382	0.838;0.951	D	0.96640	0.9473	9	.	.	.	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	265;265	B7Z398;Q96L42	.;KCNH8_HUMAN	K	265	ENSP00000328813:E265K	.	E	+	1	0	KCNH8	19364443	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.835000	0.99442	2.763000	0.94921	0.563000	0.77884	GAG		0.393	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		32	70	0	0	0	0.013726	0	32	70					A	19389439	G	A	19389439	3	1	246	1	0	0	0	0	1	0	0	0	8038	1175	41	2	811	2	KCNH8	3	19389439	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		19389439	178632991	4	28568											
CASR	846	broad.mit.edu	37	chr3	122002611	122002611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcattgccaaggagatcGagtttctgtcgtggacggag	14	9	1	1	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	ENST00000490131.1	+	7	2182	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	CASR_ENST00000498619.1_Missense_Mutation_p.E614K|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	604			E -> K (in HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity). {ECO:0000269|PubMed:12574188}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84	GRCh37	CM030375	CASR	M	rs104893712	c.(1840-1842)Gag>Aag		calcium-sensing receptor	Cinacalcet(DB01012)						148	122	131					3																	122002611		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002611G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1810G>A	3.37:g.122002611G>A	ENSP00000418685:p.Glu604Lys					CASR_ENST00000490131.1_Missense_Mutation_p.E604K|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	p.E614K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2278	+			604					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1840G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832474	0.91036	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90197	-2.63;-2.63;-2.63	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.85710	2.77	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.95963	0.8963	9	0.87932	D	0	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	614;604	E7ENE0;P41180	.;CASR_HUMAN	K	604;614;604	ENSP00000418685:E604K;ENSP00000420194:E614K;ENSP00000296154:E604K	ENSP00000296154:E604K	E	+	1	0	CASR	123485301	1.000000	0.71417	0.984000	0.44739	0.977000	0.68977	9.869000	0.99810	2.804000	0.96469	0.462000	0.41574	GAG		0.517	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		14	55	0	0	0	0.001855	0	14	55					A	122002611	G	A	122002611	3	1	246	1	0	0	0	0	1	0	0	0	2682	1059	37	1	1862	1	CASR	3	122002611	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	102613172	122002611	76019819	5	28569											
TLR3	7098	broad.mit.edu	37	chr4	187004365	187004365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctcttcgtaacttgAccattctggatctaagcaac	6	13	3	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	ENST00000296795.3	+	4	1629	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	509					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)		TCGTAACTTGACCATTCTGGA	0.443																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1525-1527)Acc>Gcc		toll-like receptor 3							104	107	106					4																	187004365		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004365A>G	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.1525A>G	4.37:g.187004365A>G	ENSP00000296795:p.Thr509Ala					TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	p.T509A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		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)	4	1629	+		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)	509					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.1525A>G	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289126	0.23478	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.58060	0.36;0.36	5.67	1.91	0.25777	.	0.367075	0.36665	N	0.002474	T	0.46889	0.1416	L	0.28649	0.875	0.42866	D	0.994127	B	0.31931	0.347	B	0.43916	0.436	T	0.40739	-0.9547	10	0.49607	T	0.09	.	9.3558	0.38166	0.7966:0.0:0.2034:0.0	.	509	O15455	TLR3_HUMAN	A	509;509;232	ENSP00000296795:T509A;ENSP00000423684:T232A	ENSP00000296795:T509A	T	+	1	0	TLR3	187241359	1.000000	0.71417	0.322000	0.25334	0.171000	0.22731	2.990000	0.49401	0.110000	0.17919	0.455000	0.32223	ACC		0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			51	63	0	0	0	0.01441	0	51	63					G	187004365	A	G	187004365	3	3	246	1	0	0	0	0	1	0	0	0	15949	275	10	3	1535	3	TLR3	4	187004365	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		187004365	4149911	6	28570											
SCD	6319	broad.mit.edu	37	chr10	102120548	102120548	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactactctgccagtgagtAccgctggcacatcaacttca	8	13	3	2			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr10:102120548A>C	ENST00000370355.2	+	6	1319	c.938A>C	c.(937-939)tAc>tCc	p.Y313S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	313					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCAGTGAGTACCGCTGGCAC	0.532																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(937-939)tAc>tCc		stearoyl-CoA desaturase (delta-9-desaturase)							148	132	137					10																	102120548		2203	4298	6501	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102120548A>C	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.938A>C	10.37:g.102120548A>C	ENSP00000359380:p.Tyr313Ser						p.Y313S	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	6	1319	+		Colorectal(252;0.0323)	313					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.938A>C	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204589	0.79127	.	.	ENSG00000099194	ENST00000370355	T	0.42131	0.98	5.5	5.5	0.81552	.	0.106321	0.42548	D	0.000692	T	0.58750	0.2144	M	0.78916	2.43	0.43283	D	0.995259	D	0.63046	0.992	P	0.59825	0.864	T	0.64266	-0.6448	10	0.87932	D	0	-45.6121	9.2831	0.37740	0.7266:0.0:0.0:0.2734	.	313	O00767	ACOD_HUMAN	S	313	ENSP00000359380:Y313S	ENSP00000359380:Y313S	Y	+	2	0	SCD	102110538	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.228000	0.65310	2.105000	0.64084	0.528000	0.53228	TAC		0.532	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		5	96	0	0	0	0.000602	0	5	96					C	102120548	A	C	102120548	3	2	246	1	0	0	0	0	1	0	0	0	13886	391	14	5	960	5	SCD	10	102120548	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		102120548	33414199	7	28571											
PACS1	55690	broad.mit.edu	37	chr11	65988687	65988687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattggcagcctcaacagcaAaggcagcctcggaaaagaca	11	11	1	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	ENST00000320580.4	+	10	1295	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	421					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAACAGCAAAGGCAGCCTC	0.642																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1261-1263)aAa>aGa		phosphofurin acidic cluster sorting protein 1							109	88	95					11																	65988687		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65988687A>G	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1262A>G	11.37:g.65988687A>G	ENSP00000316454:p.Lys421Arg						p.K421R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			10	1295	+			421					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.1262A>G	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063256	0.36373	.	.	ENSG00000175115	ENST00000320580	T	0.17854	2.25	5.06	5.06	0.68205	.	0.318645	0.34507	N	0.003918	T	0.07234	0.0183	N	0.03608	-0.345	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.32161	-0.9917	10	0.17369	T	0.5	-12.1676	10.0256	0.42070	0.8304:0.1696:0.0:0.0	.	421	Q6VY07	PACS1_HUMAN	R	421	ENSP00000316454:K421R	ENSP00000316454:K421R	K	+	2	0	PACS1	65745263	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.784000	0.55416	1.907000	0.55213	0.459000	0.35465	AAA		0.642	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		5	86	0	0	0	0.000602	0	5	86					G	65988687	A	G	65988687	3	3	246	1	0	0	0	0	1	0	0	0	11372	14	1	3	1300	3	PACS1	11	65988687	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		65988687	69017829	8	28572											
DHCR7	1717	broad.mit.edu	37	chr11	71152414	71152414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccaggacaggagatgaGcgtttgcaaaccagagcagg	14	8	0	4	rs398123606		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:71152414G>A	ENST00000355527.3	-	6	761	c.485C>T	c.(484-486)gCt>gTt	p.A162V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	162					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CAGGAGATGAGCGTTTGCAAA	0.547									Smith-Lemli-Opitz syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		20268	0.0		0.001	False		,,,				2504	0.0					ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(484-486)gCt>gTt		7-dehydrocholesterol reductase	NADH(DB00157)						178	131	147					11																	71152414		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152414G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.485C>T	11.37:g.71152414G>A	ENSP00000347717:p.Ala162Val					DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	761	-			162					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.485C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489345	0.26686	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.19	4.14	3.18	0.36537	.	0.367511	0.29692	N	0.011451	D	0.96543	0.8872	L	0.33624	1.015	0.34112	D	0.663129	P	0.51653	0.947	P	0.56751	0.805	D	0.96891	0.9653	10	0.37606	T	0.19	-11.0732	11.5549	0.50741	0.0:0.1833:0.8167:0.0	.	162	Q9UBM7	DHCR7_HUMAN	V	162;162;174;130;162	ENSP00000384739:A162V;ENSP00000347717:A162V;ENSP00000435047:A130V;ENSP00000435668:A162V	ENSP00000347717:A162V	A	-	2	0	DHCR7	70830062	1.000000	0.71417	0.001000	0.08648	0.012000	0.07955	8.537000	0.90631	0.816000	0.34421	0.313000	0.20887	GCT		0.547	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	33	0	0	0	0.004672	0	3	33					A	71152414	G	A	71152414	3	1	246	1	0	0	0	0	1	0	0	0	4477	971	34	2	958	2	DHCR7	11	71152414	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	5163727	71152414	63854102	9	28573											
FGD6	55785	broad.mit.edu	37	chr12	95604907	95604907	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttttggttttggggctatTgctggtttcattttctttgt	10	5	2	0			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	ENST00000343958.4	-	2	376	c.153A>C	c.(151-153)gcA>gcC	p.A51A	FGD6_ENST00000546711.1_Silent_p.A51A|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Silent_p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	51					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)|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(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGGCTATTGCTGGTTTCA	0.458																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(151-153)gcA>gcC		FYVE, RhoGEF and PH domain containing 6							210	223	219					12																	95604907		2203	4300	6503	SO:0001819	synonymous_variant	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604907T>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.153A>C	12.37:g.95604907T>G						FGD6_ENST00000549499.1_Silent_p.A51A|FGD6_ENST00000546711.1_Silent_p.A51A	p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	376	-			51					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.153A>C	CCDS31878.1																																																																																				0.458	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		105	171	0	0	0	0.01441	0	105	171					G	95604907	T	G	95604907	2	3	246	1	0	0	0	0	0	0	0	1	5837	1799	63	5		5	FGD6	12	95604907	Silent	SNP	T	TCGA-HT-7483-01A-11D-2024-08		95604907	38246988	10	28574											
CDR2	1039	broad.mit.edu	37	chr16	22359074	22359074	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcaagtgctcattttcctCttcatcagggcttggctgac	8	11	5	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	ENST00000268383.2	-	5	884	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	193						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(577-579)Gag>Cag		cerebellar degeneration-related protein 2, 62kDa							121	109	113					16																	22359074		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22359074C>G	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"Yo paraneoplastic antigen"	117340	"cerebellar degeneration-related protein (62kD)"			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.577G>C	16.37:g.22359074C>G	ENSP00000268383:p.Glu193Gln						p.E193Q	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	5	884	-			193					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.577G>C	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645363	0.67358	.	.	ENSG00000140743	ENST00000268383	T	0.29397	1.57	5.58	5.58	0.84498	.	0.046816	0.85682	D	0.000000	T	0.49236	0.1545	L	0.49571	1.57	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	T	0.19095	-1.0316	10	0.16896	T	0.51	-19.5919	19.5747	0.95438	0.0:1.0:0.0:0.0	.	193	Q01850	CDR2_HUMAN	Q	193	ENSP00000268383:E193Q	ENSP00000268383:E193Q	E	-	1	0	CDR2	22266575	1.000000	0.71417	0.867000	0.34043	0.651000	0.38670	5.217000	0.65252	2.618000	0.88619	0.655000	0.94253	GAG		0.458	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			57	60	0	0	0	0.01441	0	57	60					G	22359074	C	G	22359074	3	3	246	1	0	0	0	0	1	0	0	0	3172	922	32	4	791	4	CDR2	16	22359074	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		22359074	67995679	11	28575											
TP53	7157	broad.mit.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	11	14	1	0	rs397516437		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	ENST00000269305.4	-	7	919	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	TP53_ENST00000455263.2_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000420246.2_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000574684.1_5'Flank	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(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						c.(730-732)Ggc>Cgc	Other conserved DNA damage response genes	tumor protein p53							147	111	123					17																	7577551		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577551C>G	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.730G>C	17.37:g.7577551C>G	ENSP00000269305:p.Gly244Arg	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)				TP53_ENST00000269305.4_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R|TP53_ENST00000455263.2_Missense_Mutation_p.G244R	p.G244R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	862	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.730G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754893	0.89843	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	4.62	4.62	0.57501	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	0.99894	0.9949	M	0.90759	3.145	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;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244R;ENSP00000352610:G244R;ENSP00000269305:G244R;ENSP00000398846:G244R;ENSP00000391127:G244R;ENSP00000391478:G244R;ENSP00000425104:G112R;ENSP00000423862:G151R	ENSP00000269305:G244R	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	11	0	0	0	0.01441	0	52	11					G	7577551	C	G	7577551	3	3	246	1	0	0	0	0	1	0	0	0	16378	623	22	4	560	4	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		7577551	73617659	12	28576											
C17orf47	284083	broad.mit.edu	37	chr17	56620284	56620284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgaggagtcaggtcCgtacctaggtaaggaccgag	13	11	1	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	ENST00000321691.3	-	1	1445	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	422										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)					GAGTCAGGTCCGTACCTAGGT	0.547																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1264-1266)Gga>Aga		chromosome 17 open reading frame 47							120	123	122					17																	56620284		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620284C>T		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.1264G>A	17.37:g.56620284C>T	ENSP00000354874:p.Gly422Arg					RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	p.G422R	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1445	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		422					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1264G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595758	0.66219	.	.	ENSG00000181013	ENST00000321691	T	0.50548	0.74	5.8	5.8	0.92144	.	0.185211	0.38492	N	0.001672	T	0.58864	0.2152	L	0.34521	1.04	0.36278	D	0.855618	D	0.89917	1.0	D	0.77004	0.989	T	0.66106	-0.6006	10	0.72032	D	0.01	-6.9381	15.5506	0.76148	0.0:1.0:0.0:0.0	.	422	Q8NEP4	CQ047_HUMAN	R	422	ENSP00000354874:G422R	ENSP00000354874:G422R	G	-	1	0	C17orf47	53975283	0.120000	0.22244	0.909000	0.35828	0.434000	0.31775	3.893000	0.56243	2.739000	0.93911	0.561000	0.74099	GGA		0.547	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		38	64	0	0	0	0.005524	0	38	64					T	56620284	C	T	56620284	3	4	246	1	0	0	0	0	1	0	0	0	1858	661	23	1	456	1	C17orf47	17	56620284	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08	49042733	56620284	24574926	13	28577											
PAPL	390928	broad.mit.edu	37	chr19	39591277	39591277	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggataatgagggcctgtgGtacaggtaatgtgggggtgc	20	4	0	1	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	ENST00000331256.5	+	6	961	c.687G>C	c.(685-687)tgG>tgC	p.W229C	PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		229						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										AGGGCCTGTGGTACAGGTAAT	0.572																																						ENST00000331256.5																			0											c.(685-687)tgG>tgC									96	101	99					19																	39591277		2203	4300	6503	SO:0001583	missense	0					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39591277G>C																												ENST00000331256.5:c.687G>C	19.37:g.39591277G>C	ENSP00000327557:p.Trp229Cys					PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	p.W229C	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN			6	961	+			229					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.687G>C	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111141	0.77210	.	.	ENSG00000183760	ENST00000331256	D	0.85013	-1.93	5.24	5.24	0.73138	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.94683	0.8285	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96004	0.8996	10	0.87932	D	0	-26.2857	16.6789	0.85286	0.0:0.0:1.0:0.0	.	229	Q6ZNF0	PAPL_HUMAN	C	229	ENSP00000327557:W229C	ENSP00000327557:W229C	W	+	3	0	AC011443.1	44283117	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.661000	0.91125	2.585000	0.87301	0.563000	0.77884	TGG		0.572	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			38	62	0	0	0	0.009718	0	38	62					C	39591277	G	C	39591277	3	2	246	1	0	0	0	0	1	0	0	0	11427	1270	44	4	705	4	PAPL	19	39591277	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		39591277	19537706	14	28578											
ADRA1D	146	broad.mit.edu	37	chr20	4202427	4202427	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaggcgctgggtggctttcGacggctggcgaccggagcct	18	11	0	0			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	ENST00000379453.4	-	2	1578	c.1462C>A	c.(1462-1464)Cga>Aga	p.R488R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	488					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)	GGTGGCTTTCGACGGCTGGCG	0.736																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1462-1464)Cga>Aga		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						5	6	5					20																	4202427		1746	3606	5352	SO:0001819	synonymous_variant	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202427G>T	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.1462C>A	20.37:g.4202427G>T							p.R488R	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1578	-			488					Q9NPY0	Silent	SNP	ENST00000379453.4	37	c.1462C>A	CCDS13079.1																																																																																				0.736	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		6	5	1	0	2.7689e-08	0.001984	3.30138e-08	6	5					T	4202427	G	T	4202427	2	4	246	1	0	0	0	0	0	0	0	1	336	1066	37	4		4	ADRA1D	20	4202427	Silent	SNP	G	TCGA-HT-7483-01A-11D-2024-08		4202427	58823093	15	28579											
CDH4	1002	broad.mit.edu	37	chr20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaatgacatccccatccGgtacagcatcacgggagtgg	11	12	1	2			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	ENST00000360469.5	+	5	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	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)|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)			ATCCCCATCCGGTACAGCATC	0.607																																						ENST00000360469.5																			0				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						c.(610-612)cGg>cAg		cadherin 4, type 1, R-cadherin (retinal)							93	80	85					20																	60419758		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419758G>A	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.611G>A	20.37:g.60419758G>A	ENSP00000353656:p.Arg204Gln					CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	p.R204Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	699	+			204			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.611G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152354	0.38021	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	3.68	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	L	0.54965	1.715	0.58432	D	0.999996	P	0.48998	0.918	B	0.35550	0.205	T	0.45948	-0.9226	9	.	.	.	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	204	P55283	CADH4_HUMAN	Q	204;112;130	ENSP00000353656:R204Q;ENSP00000443301:R130Q	.	R	+	2	0	CDH4	59853153	1.000000	0.71417	0.917000	0.36280	0.113000	0.19764	7.651000	0.83577	1.753000	0.51906	0.313000	0.20887	CGG		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		9	58	0	0	0	0.008291	0	9	58					A	60419758	G	A	60419758	3	1	246	1	0	0	0	0	1	0	0	0	3112	1116	39	1	629	1	CDH4	20	60419758	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	56217331	60419758	2605762	16	28580											
C20orf135	140701	broad.mit.edu	37	chr20	62493607	62493607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcctgcacttcccgccCgcgcacctggtggtctacgg	11	19	1	0			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:62493607C>T	ENST00000369916.3	+	1	1042	c.714C>T	c.(712-714)ccC>ccT	p.P238P	TPD52L2_ENST00000369927.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	238							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACTTCCCGCCCGCGCACCTGG	0.687																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(712-714)ccC>ccT		abhydrolase domain containing 16B							38	31	33					20																	62493607		2203	4297	6500	SO:0001819	synonymous_variant	140701						hydrolase activity	g.chr20:62493607C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.714C>T	20.37:g.62493607C>T							p.P238P	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1042	+			238						Silent	SNP	ENST00000369916.3	37	c.714C>T	CCDS13539.1																																																																																				0.687	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			7	6	0	0	0	0.004482	0	7	6					T	62493607	C	T	62493607	2	4	246	1	0	0	0	0	0	0	0	1	2088	639	23	1		1	C20orf135	20	62493607	Silent	SNP	C	TCGA-HT-7483-01A-11D-2024-08	2073849	62493607	531913	17	28581											
ATRX	546	broad.mit.edu	37	chrX	76814319	76814319	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgataaataatcgtcctcTgaaaatgaaaatatagaata	5	4	1	4			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	ENST00000373344.5	-	29	6541		c.e29-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						AATCGTCCTCTGAAAATGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e29-2		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						35	34	34					X																	76814319		2187	4284	6471	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814319T>C	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.6327-2A>G	X.37:g.76814319T>C						ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6541	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869052	0.51588	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1415	0.65322	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76700975	1.000000	0.71417	0.999000	0.59377	0.475000	0.33008	7.616000	0.83018	1.716000	0.51395	0.486000	0.48141	.		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	21	9	0	0	0	0.012319	0	21	9					C	76814319	T	C	76814319	5	2	246	1	0	0	0	0	0	0	1	0	1208	1594	55	3	1181	3	ATRX	23	76814319	Splice_Site	SNP	T	TCGA-HT-7483-01A-11D-2024-08		76814319	78456241	18	28582											
LRP2	4036	broad.mit.edu	37	chr2	170093662	170093662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatttgttaggtttttacTaatcagcacagtcctgtggc	10	7	1	0	rs140722973	byFrequency	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:170093662T>C	ENST00000263816.3	-	28	4927	c.4642A>G	c.(4642-4644)Agt>Ggt	p.S1548G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1548					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)"	AGGTTTTTACTAATCAGCACA	0.383													T|||	2	0.000399361	0.0015	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				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						c.(4642-4644)Agt>Ggt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						144	141	142					2																	170093662		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093662T>C		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.4642A>G	2.37:g.170093662T>C	ENSP00000263816:p.Ser1548Gly						p.S1548G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4927	-			1548					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4642A>G	CCDS2232.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	23.9	4.466384	0.84425	.	.	ENSG00000081479	ENST00000263816	D	0.95103	-3.61	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94180	0.7431	10	0.46703	T	0.11	.	15.5799	0.76425	0.0:0.0:0.0:1.0	.	1548	P98164	LRP2_HUMAN	G	1548	ENSP00000263816:S1548G	ENSP00000263816:S1548G	S	-	1	0	LRP2	169801908	1.000000	0.71417	0.614000	0.29051	0.995000	0.86356	6.229000	0.72294	2.133000	0.65898	0.528000	0.53228	AGT		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		37	60	0	0	0	1	0	37	60					C	170093662	T	C	170093662	3	2	247	1	0	0	0	0	1	0	0	0	8956	1522	53	3	9533	3	LRP2	2	170093662	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		170093662	73105711	1	28583											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	35	0	0	0	1	0	18	35					T	209113112	C	T	209113112	3	4	247	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	39019450	209113112	34086261	2	28584											
WDFY3	23001	broad.mit.edu	37	chr4	85612906	85612906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagaatacctttatctgTacatacgatttgtcctacag	6	10	1	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr4:85612906T>C	ENST00000295888.4	-	60	9489	c.9082A>G	c.(9082-9084)Aca>Gca	p.T3028A	WDFY3_ENST00000322366.6_Missense_Mutation_p.T3011A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3028	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTTATCTGTACATACGATT	0.388																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9031-9033)Aca>Gca		WD repeat and FYVE domain containing 3							79	76	77					4																	85612906		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85612906T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9082A>G	4.37:g.85612906T>C	ENSP00000295888:p.Thr3028Ala					WDFY3_ENST00000295888.4_Missense_Mutation_p.T3028A	p.T3011A			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	59	9438	-		Hepatocellular(203;0.114)	3028					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9031A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341867	0.41498	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.31510	1.49;1.49;1.49	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	M	0.64170	1.965	0.80722	D	1	B	0.28880	0.226	B	0.25884	0.064	T	0.09271	-1.0682	10	0.14252	T	0.57	.	15.924	0.79597	0.0:0.0:0.0:1.0	.	3028	Q8IZQ1	WDFY3_HUMAN	A	3011;3028;631	ENSP00000318466:T3011A;ENSP00000295888:T3028A;ENSP00000424987:T631A	ENSP00000295888:T3028A	T	-	1	0	WDFY3	85831930	1.000000	0.71417	0.964000	0.40570	0.597000	0.36814	7.997000	0.88414	2.217000	0.71921	0.533000	0.62120	ACA		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		21	36	0	0	0	1	0	21	36					C	85612906	T	C	85612906	3	2	247	1	0	0	0	0	1	0	0	0	17267	1638	57	3	1534	3	WDFY3	4	85612906	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		85612906	105541370	3	28585											
ABCC10	89845	broad.mit.edu	37	chr6	43403556	43403556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttcccttgggtgatcaAtggtctcctggaggccaaag	11	11	2	1	rs114002465	byFrequency	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:43403556A>G	ENST00000372530.4	+	5	1891	c.1676A>G	c.(1675-1677)aAt>aGt	p.N559S	ABCC10_ENST00000244533.3_Missense_Mutation_p.N516S	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	559	ABC transmembrane type-1 1. {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)	TGGGTGATCAATGGTCTCCTG	0.572													A|||	3	0.000599042	0.0008	0.0	5008	,	,		20079	0.002		0.0	False		,,,				2504	0.0					ENST00000244533.3																			0				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						c.(1546-1548)aAt>aGt		ATP-binding cassette, sub-family C (CFTR/MRP), member 10		A	SER/ASN,SER/ASN	2,4404	4.2+/-10.8	0,2,2201	114	101	105		1676,1547	5.3	1	6	dbSNP_132	105	0,8600		0,0,4300	yes	missense,missense	ABCC10	NM_001198934.1,NM_033450.2	46,46	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging,probably-damaging	559/1493,516/1465	43403556	2,13004	2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403556A>G	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.1676A>G	6.37:g.43403556A>G	ENSP00000361608:p.Asn559Ser					ABCC10_ENST00000372530.4_Missense_Mutation_p.N559S	p.N516S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	1906	+	all_lung(25;0.00536)		559			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1547A>G	CCDS56430.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	17.06	3.291463	0.59976	4.54E-4	0.0	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.94184	-3.37;-2.84;-2.84	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.104157	0.64402	D	0.000005	D	0.89719	0.6796	L	0.38649	1.16	0.52501	D	0.999952	D;B	0.59357	0.985;0.073	P;B	0.61592	0.891;0.031	D	0.88640	0.3175	10	0.02654	T	1	-29.3502	15.2623	0.73634	1.0:0.0:0.0:0.0	.	516;559	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	115;559;516	ENSP00000361593:N115S;ENSP00000361608:N559S;ENSP00000244533:N516S	ENSP00000244533:N516S	N	+	2	0	ABCC10	43511534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.489000	0.81451	2.017000	0.59298	0.379000	0.24179	AAT		0.572	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		26	40	0	0	0	1	0	26	40					G	43403556	A	G	43403556	3	3	247	1	0	0	0	0	1	0	0	0	50	101	4	3	1557	3	ABCC10	6	43403556	Missense_Mutation	SNP	A	TCGA-HT-7485-01A-11D-2024-08		43403556	127711511	4	28586											
LGSN	51557	broad.mit.edu	37	chr6	63990506	63990506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctatcgacatcccagagaCtatgagacaaaatccctgaa	6	12	0	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:63990506C>T	ENST00000370657.4	-	4	983	c.950G>A	c.(949-951)aGt>aAt	p.S317N	LGSN_ENST00000370658.5_Splice_Site			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	317					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATCCCAGAGACTATGAGACAA	0.433																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(949-951)aGt>aAt		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						78	79	78					6																	63990506		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990506C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.950G>A	6.37:g.63990506C>T	ENSP00000359691:p.Ser317Asn					LGSN_ENST00000370658.5_Splice_Site	p.S317N			Q5TDP6	LGSN_HUMAN			4	983	-			317					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.950G>A	CCDS4964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.04|11.04	1.521961|1.521961	0.27211|0.27211	.|.	.|.	ENSG00000146166|ENSG00000146166	ENST00000370658|ENST00000370657	.|D	.|0.92446	.|-3.04	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95934	.|0.8676	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.95763	.|0.8802	.|9	.|0.62326	.|D	.|0.03	.|-30.7107	18.6354|18.6354	0.91376|0.91376	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|317	.|Q5TDP6	.|LGSN_HUMAN	.|N	-1|317	.|ENSP00000359691:S317N	.|ENSP00000359691:S317N	.|S	-|-	.|2	.|0	LGSN|LGSN	64048465|64048465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.030000|0.030000	0.12068|0.12068	7.487000|7.487000	0.81328|0.81328	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	.|AGT		0.433	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		22	37	0	0	0	1	0	22	37					T	63990506	C	T	63990506	3	4	247	1	0	0	0	0	1	0	0	0	8759	579	20	2	583	2	LGSN	6	63990506	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	20586950	63990506	107124561	5	28587											
TRIP6	7205	broad.mit.edu	37	chr7	100469261	100469261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggctgcttcacctgcGtggtgtgtcaccgcggcctc	12	16	2	0			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:100469261G>A	ENST00000200457.4	+	7	1456	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	366	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCACCTGCGTGGTGTGTCA	0.632																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(1096-1098)Gtg>Atg		thyroid hormone receptor interactor 6							105	78	87					7																	100469261		2203	4300	6503	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100469261G>A	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1096G>A	7.37:g.100469261G>A	ENSP00000200457:p.Val366Met						p.V366M	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			7	1456	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		366			LIM zinc-binding 2.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.1096G>A	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294937	0.81025	.	.	ENSG00000087077	ENST00000200457	D	0.87256	-2.23	4.3	4.3	0.51218	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000002	D	0.91597	0.7345	M	0.67569	2.06	0.80722	D	1	D	0.61080	0.989	D	0.64595	0.927	D	0.92677	0.6155	10	0.87932	D	0	.	14.2798	0.66202	0.0:0.0:1.0:0.0	.	366	Q15654	TRIP6_HUMAN	M	366	ENSP00000200457:V366M	ENSP00000200457:V366M	V	+	1	0	TRIP6	100307197	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.799000	0.99117	1.933000	0.56026	0.557000	0.71058	GTG		0.632	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		21	45	0	0	0	1	0	21	45					A	100469261	G	A	100469261	3	1	247	1	0	0	0	0	1	0	0	0	16556	1145	40	1	1122	1	TRIP6	7	100469261	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		100469261	58669402	6	28588											
VWF	7450	broad.mit.edu	37	chr12	6155976	6155976	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagtgcatgaagccatcctCacagtagctgcagagaagaa	10	10	1	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:6155976C>T	ENST00000261405.5	-	17	2448	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	732					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)	AAGCCATCCTCACAGTAGCTG	0.557																																						ENST00000261405.5																			0				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						c.(2194-2196)Gag>Aag		von Willebrand factor	Antihemophilic Factor(DB00025)						108	94	99					12																	6155976		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6155976C>T		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.2194G>A	12.37:g.6155976C>T	ENSP00000261405:p.Glu732Lys						p.E732K	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			17	2448	-			732					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2194G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644717	0.67358	.	.	ENSG00000110799	ENST00000261405	T	0.64618	-0.11	3.46	3.46	0.39613	.	0.455403	0.15996	N	0.234577	T	0.61912	0.2385	M	0.75777	2.31	0.80722	D	1	B	0.31625	0.332	B	0.29862	0.108	T	0.65092	-0.6252	10	0.38643	T	0.18	.	14.4484	0.67367	0.0:1.0:0.0:0.0	.	732	P04275	VWF_HUMAN	K	732	ENSP00000261405:E732K	ENSP00000261405:E732K	E	-	1	0	VWF	6026237	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	6.409000	0.73289	1.945000	0.56424	0.491000	0.48974	GAG		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	30	0	0	0	1	0	3	30					T	6155976	C	T	6155976	3	4	247	1	0	0	0	0	1	0	0	0	17243	835	29	2	6391	2	VWF	12	6155976	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		6155976	127695919	7	28589											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	4	8						4	8	---	---	---	---	C	7080213	-	C	7080212	8	5	247	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-HT-7485-01A-11D-2024-08	924236	7080212	126771683	8	28590											
MCTP2	55784	broad.mit.edu	37	chr15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttctctgacaggatggGcattttggacattgaagtgt	11	7	1	2	rs536270811		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr15:94901781G>A	ENST00000357742.4	+	9	1241	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D	MCTP2_ENST00000557742.1_Missense_Mutation_p.G2D|MCTP2_ENST00000543482.1_Silent_p.G392G|MCTP2_ENST00000331706.4_Missense_Mutation_p.G2D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G414D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	414	C2 2. {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)			GACAGGATGGGCATTTTGGAC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18407	0.0		0.0	False		,,,				2504	0.0					ENST00000357742.4																			0				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						c.(1240-1242)gGc>gAc		multiple C2 domains, transmembrane 2							128	113	118					15																	94901781		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94901781G>A	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.1241G>A	15.37:g.94901781G>A	ENSP00000350377:p.Gly414Asp					MCTP2_ENST00000543482.1_Silent_p.G392G|MCTP2_ENST00000451018.3_Missense_Mutation_p.G414D|MCTP2_ENST00000331706.4_Missense_Mutation_p.G2D|MCTP2_ENST00000557742.1_Missense_Mutation_p.G2D	p.G414D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		9	1241	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		414			C2 2.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1241G>A	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397274	0.83120	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.73575	-0.25;-0.76;-0.25	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.376696	0.33272	N	0.005089	T	0.65101	0.2659	L	0.35854	1.095	0.46260	D	0.998959	B;B;B	0.19583	0.002;0.037;0.008	B;B;B	0.19148	0.007;0.024;0.022	T	0.63152	-0.6701	10	0.72032	D	0.01	.	11.0003	0.47602	0.1122:0.0:0.8878:0.0	.	414;2;414	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	D	414;2;414	ENSP00000395109:G414D;ENSP00000329646:G2D;ENSP00000350377:G414D	ENSP00000329646:G2D	G	+	2	0	MCTP2	92702785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.944000	0.49034	2.722000	0.93159	0.650000	0.86243	GGC		0.453	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		15	25	0	0	0	1	0	15	25					A	94901781	G	A	94901781	3	1	247	1	0	0	0	0	1	0	0	0	9401	1203	42	2	1275	2	MCTP2	15	94901781	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		94901781	7629611	9	28591											
ACAP1	9744	broad.mit.edu	37	chr17	7250531	7250531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcaaccttggtgtcaCcctctgcattcagtgttccg	8	14	4	0			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7250531C>T	ENST00000158762.3	+	14	1519	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	438	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTTGGTGTCACCCTCTGCATT	0.642																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(1312-1314)aCc>aTc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							80	91	87					17																	7250531		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250531C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16467	protein-coding gene	gene with protein product		607763	"centaurin, beta 1"	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1313C>T	17.37:g.7250531C>T	ENSP00000158762:p.Thr438Ile						p.T438I	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			14	1519	+			438			Arf-GAP.|Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1313C>T	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457917	0.84317	.	.	ENSG00000072818	ENST00000158762	T	0.40225	1.04	4.77	4.77	0.60923	.	0.265127	0.41194	D	0.000929	T	0.54046	0.1834	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.47235	-0.9133	10	0.32370	T	0.25	.	15.3166	0.74085	0.0:1.0:0.0:0.0	.	438	Q15027	ACAP1_HUMAN	I	438	ENSP00000158762:T438I	ENSP00000158762:T438I	T	+	2	0	ACAP1	7191255	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	2.967000	0.49216	2.480000	0.83734	0.462000	0.41574	ACC		0.642	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		26	14	0	0	0	1	0	26	14					T	7250531	C	T	7250531	3	4	247	1	0	0	0	0	1	0	0	0	118	507	18	2	1367	2	ACAP1	17	7250531	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		7250531	73944679	10	28592											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	9	12	1	0			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(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	GRCh37	CX952222	TP53	X		c.(646-648)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							123	111	115					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578203C>T	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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met	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)				TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V216M	p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.646G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	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	0.99889	0.9947	M	0.92169	3.28	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	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	4	0	0	0	1	0	18	4					T	7578203	C	T	7578203	3	4	247	1	0	0	0	0	1	0	0	0	16378	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	327672	7578203	73617007	11	28593											
MYH10	4628	broad.mit.edu	37	chr17	8424575	8424575	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgtctcagtcataccagtGacttgatccagacccacgat	8	13	2	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:8424575G>A	ENST00000269243.4	-	16	2031	c.1893C>T	c.(1891-1893)gtC>gtT	p.V631V	MYH10_ENST00000379980.4_Silent_p.V647V|MYH10_ENST00000360416.3_Silent_p.V662V|MYH10_ENST00000396239.1_Silent_p.V652V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	631	Myosin motor.				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						TCATACCAGTGACTTGATCCA	0.463																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1984-1986)gtC>gtT		myosin, heavy chain 10, non-muscle							136	130	132					17																	8424575		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8424575G>A	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.1893C>T	17.37:g.8424575G>A						MYH10_ENST00000396239.1_Silent_p.V652V|MYH10_ENST00000379980.4_Silent_p.V647V|MYH10_ENST00000269243.4_Silent_p.V631V	p.V662V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			18	2124	-			631			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.1986C>T	CCDS11144.1																																																																																				0.463	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			32	63	0	0	0	1	0	32	63					A	8424575	G	A	8424575	2	1	247	1	0	0	0	0	0	0	0	1	10030	1277	45	2		2	MYH10	17	8424575	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08	846372	8424575	72770635	12	28594											
DSC1	1823	broad.mit.edu	37	chr18	28725703	28725703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatggagagtgtcaggttcGtcaaggtctgtggcggtcac	16	7	4	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr18:28725703G>A	ENST00000257198.5	-	7	1071	c.810C>T	c.(808-810)gaC>gaT	p.D270D	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.D270D	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	270	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTCAGGTTCGTCAAGGTCTG	0.368																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(808-810)gaC>gaT		desmocollin 1							165	167	166					18																	28725703		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725703G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.810C>T	18.37:g.28725703G>A						RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.D270D	p.D270D	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1071	-			270			Cadherin 2.		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.810C>T	CCDS11894.1																																																																																				0.368	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		4	65	0	0	0	1	0	4	65					A	28725703	G	A	28725703	2	1	247	1	0	0	0	0	0	0	0	1	4765	1136	40	1		1	DSC1	18	28725703	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08		28725703	49351545	13	28595											
SEMA6B	10501	broad.mit.edu	37	chr19	4556083	4556083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggagcagcacctttaCgaagtttcgacactcgccct	9	14	0	0			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:4556083C>T	ENST00000586582.1	-	6	698	c.388G>A	c.(388-390)Gta>Ata	p.V130I	SEMA6B_ENST00000586965.1_Missense_Mutation_p.V130I|SEMA6B_ENST00000301293.3_Missense_Mutation_p.V130I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	130	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)		AGCACCTTTACGAAGTTTCGA	0.607																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(388-390)Gta>Ata		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							106	80	89					19																	4556083		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4556083C>T	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.388G>A	19.37:g.4556083C>T	ENSP00000467290:p.Val130Ile					SEMA6B_ENST00000301293.3_Missense_Mutation_p.V130I|SEMA6B_ENST00000586965.1_Missense_Mutation_p.V130I	p.V130I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	6	698	-		Hepatocellular(1079;0.137)	130			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.388G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	c	5.632	0.301372	0.10678	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.18657	2.2	3.67	3.67	0.42095	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.259259	0.38778	U	0.001580	T	0.05135	0.0137	N	0.00869	-1.13	0.25321	N	0.989117	B;P	0.36027	0.062;0.533	B;B	0.31495	0.024;0.131	T	0.33650	-0.9860	10	0.02654	T	1	.	13.2872	0.60249	0.0:1.0:0.0:0.0	.	130;130	B4DT36;Q9H3T3	.;SEM6B_HUMAN	I	130	ENSP00000301293:V130I	ENSP00000301292:V130I	V	-	1	0	SEMA6B	4507083	1.000000	0.71417	0.974000	0.42286	0.707000	0.40811	1.281000	0.33214	2.076000	0.62316	0.298000	0.19748	GTA		0.607	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		6	32	0	0	0	1	0	6	32					T	4556083	C	T	4556083	3	4	247	1	0	0	0	0	1	0	0	0	14040	536	19	1	2326	1	SEMA6B	19	4556083	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		4556083	54572900	14	28596											
ATRX	546	broad.mit.edu	37	chrX	76940489	76940489	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcatcactcatgtaatactTaaagcaattctattaaaaga	3	7	4	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:76940489T>A	ENST00000373344.5	-	8	818	c.604A>T	c.(604-606)Aag>Tag	p.K202*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K164*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	202	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						ATGTAATACTTAAAGCAATTC	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(604-606)Aag>Tag		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						109	100	103					X																	76940489		2203	4294	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940489T>A	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.604A>T	X.37:g.76940489T>A	ENSP00000362441:p.Lys202*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.K164*|ATRX_ENST00000480283.1_5'UTR	p.K202*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	818	-			202			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.604A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	40	8.023869	0.98616	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.54	5.54	0.83059	.	0.203483	0.40908	D	0.000982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4689	14.6633	0.68888	0.0:0.0:0.0:1.0	.	.	.	.	X	202;164;158	.	ENSP00000362441:K202X	K	-	1	0	ATRX	76827145	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.624000	0.83124	1.844000	0.53588	0.345000	0.21793	AAG		0.284	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		49	8	0	0	0	1	0	49	8					A	76940489	T	A	76940489	4	1	247	1	0	0	0	0	0	1	0	0	1208	1763	61	5	6986	5	ATRX	23	76940489	Nonsense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		76940489	78330071	15	28597											
GPR112	139378	broad.mit.edu	37	chrX	135432487	135432487	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catatccttttacagcaactGtgtcttcaccaatatcgtcc	4	13	2	0			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:135432487G>C	ENST00000394143.1	+	6	6913	c.6622G>C	c.(6622-6624)Gtg>Ctg	p.V2208L	GPR112_ENST00000370652.1_Missense_Mutation_p.V2208L|GPR112_ENST00000412101.1_Missense_Mutation_p.V2003L|GPR112_ENST00000287534.4_Missense_Mutation_p.V2145L|GPR112_ENST00000394141.1_Missense_Mutation_p.V2003L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2208					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAGCAACTGTGTCTTCACC	0.453																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(6622-6624)Gtg>Ctg		G protein-coupled receptor 112							193	160	171					X																	135432487		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135432487G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6622G>C	X.37:g.135432487G>C	ENSP00000377699:p.Val2208Leu					GPR112_ENST00000370652.1_Missense_Mutation_p.V2208L|GPR112_ENST00000287534.4_Missense_Mutation_p.V2145L|GPR112_ENST00000412101.1_Missense_Mutation_p.V2003L|GPR112_ENST00000394141.1_Missense_Mutation_p.V2003L	p.V2208L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6913	+	Acute lymphoblastic leukemia(192;0.000127)		2208					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6622G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	9.564	1.119237	0.20877	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.5;1.49	3.01	2.14	0.27477	.	.	.	.	.	T	0.18087	0.0434	L	0.27053	0.805	0.09310	N	0.999999	P;B;P	0.38535	0.597;0.426;0.635	B;B;B	0.37239	0.244;0.098;0.112	T	0.11567	-1.0582	9	0.25106	T	0.35	.	5.3084	0.15817	0.1647:0.0:0.8353:0.0	.	2145;2003;2208	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	2208;2208;2003;2145;2003	ENSP00000377699:V2208L;ENSP00000359686:V2208L;ENSP00000416526:V2003L;ENSP00000287534:V2145L;ENSP00000377697:V2003L	ENSP00000287534:V2145L	V	+	1	0	GPR112	135260153	0.251000	0.23961	0.051000	0.19133	0.501000	0.33797	0.358000	0.20216	0.679000	0.31345	0.431000	0.28591	GTG		0.453	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			5	55	0	0	0	1	0	5	55					C	135432487	G	C	135432487	3	2	247	1	0	0	0	0	1	0	0	0	6629	1377	48	4	6632	4	GPR112	23	135432487	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08	58491998	135432487	19838073	16	28598											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	85	0	0	0	1	0	29	85					T	209113112	C	T	209113112	3	4	248	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		209113112	34086261	1	28599											
PLD1	5337	broad.mit.edu	37	chr3	171427368	171427368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatttagctaaagcattcTcttggatagcagcatatgac	7	9	1	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:171427368T>C	ENST00000351298.4	-	10	1169	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	PLD1_ENST00000356327.5_Missense_Mutation_p.E348G|PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	348					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAAGCATTCTCTTGGATAGC	0.413																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1042-1044)gAg>gGg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						154	143	147					3																	171427368		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427368T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1043A>G	3.37:g.171427368T>C	ENSP00000342793:p.Glu348Gly					PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000351298.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G	p.E348G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1113	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		348						Missense_Mutation	SNP	ENST00000351298.4	37	c.1043A>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478742	0.44044	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.5	4.35	0.52113	.	0.315337	0.37623	N	0.002009	T	0.23649	0.0572	M	0.71581	2.175	0.53688	D	0.999978	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.03017	-1.1082	10	0.33141	T	0.24	-9.1155	10.4718	0.44642	0.0:0.078:0.0:0.922	.	371;348	Q59EA4;Q13393	.;PLD1_HUMAN	G	348	ENSP00000348681:E348G;ENSP00000342793:E348G;ENSP00000339936:E348G;ENSP00000340326:E348G	ENSP00000340326:E348G	E	-	2	0	PLD1	172910062	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.582000	0.60957	0.918000	0.36919	0.460000	0.39030	GAG		0.413	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		34	84	0	0	0	1	0	34	84					C	171427368	T	C	171427368	3	2	248	1	0	0	0	0	1	0	0	0	12045	1551	54	3	2253	3	PLD1	3	171427368	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08		171427368	26595062	2	28600											
APBB2	323	broad.mit.edu	37	chr4	41015610	41015610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggtacctgtttcatcCggggagctgggtgaggcact	16	10	1	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(823-825)ccG>ccA		amyloid beta (A4) precursor protein-binding, family B, member 2							133	131	132					4																	41015610		1970	4149	6119	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41015610C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.825G>A	4.37:g.41015610C>T						APBB2_ENST00000508593.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000513140.1_Silent_p.P275P	p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1454	-			275					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.825G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118483	0.01785	.	.	ENSG00000163697	ENST00000513611	.	.	.	6.04	-4.8	0.03190	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43893	-0.9363	4	.	.	.	-13.3558	5.2636	0.15588	0.0929:0.1346:0.17:0.6025	.	.	.	.	R	265	.	.	G	-	1	0	APBB2	40710367	0.000000	0.05858	0.880000	0.34516	0.021000	0.10359	-2.188000	0.01249	-0.852000	0.04141	0.563000	0.77884	GGA		0.512	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		54	142	0	0	0	1	0	54	142					T	41015610	C	T	41015610	2	4	248	1	0	0	0	0	0	0	0	1	761	639	23	1		1	APBB2	4	41015610	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		41015610	150138666	3	28601											
GABRA1	2554	broad.mit.edu	37	chr5	161324271	161324271	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggtcaagcccgaaacaaAaccaccagaacccaagaaaa	7	12	1	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr5:161324271A>T	ENST00000428797.2	+	11	1569	c.1214A>T	c.(1213-1215)aAa>aTa	p.K405I	GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I|GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	405					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)	CCCGAAACAAAACCACCAGAA	0.473																																						ENST00000428797.2																			0				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						c.(1213-1215)aAa>aTa		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						142	142	142					5																	161324271		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324271A>T		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.1214A>T	5.37:g.161324271A>T	ENSP00000393097:p.Lys405Ile					GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I	p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1569	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	405					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1214A>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459302	0.63401	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.097947	0.64402	D	0.000002	D	0.85986	0.5825	M	0.64404	1.975	0.80722	D	1	B	0.22003	0.063	B	0.23018	0.043	D	0.83522	0.0086	10	0.51188	T	0.08	.	15.5691	0.76320	1.0:0.0:0.0:0.0	.	405	P14867	GBRA1_HUMAN	I	405	ENSP00000023897:K405I;ENSP00000393097:K405I;ENSP00000377517:K405I;ENSP00000415441:K405I;ENSP00000408041:K405I;ENSP00000414232:K405I	ENSP00000023897:K405I	K	+	2	0	GABRA1	161256849	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.850000	0.92190	2.134000	0.65973	0.460000	0.39030	AAA		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		5	118	0	0	0	1	0	5	118					T	161324271	A	T	161324271	3	4	248	1	0	0	0	0	1	0	0	0	6160	14	1	5	1248	5	GABRA1	5	161324271	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		161324271	19590989	4	28602											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34803152	34803152	+	Frame_Shift_Del	DEL	A	A	-													tgctgactgactcacagctcAaggctatgatgaagtatgca							TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:34803152delA	ENST00000192788.5	+	7	922	c.751delA	c.(751-753)aagfs	p.K251fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	251							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						CTCACAGCTCAAGGCTATGAT	0.493																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(751-753)agfs		UHRF1 binding protein 1							122	123	123					6																	34803152		2089	4224	6313	SO:0001589	frameshift_variant	54887							g.chr6:34803152delA	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.751delA	6.37:g.34803152delA	ENSP00000192788:p.Lys251fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			7	922	+			251					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.751delA	CCDS43455.1																																																																																				0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		11	162						11	162	---	---	---	---	-	34803152	A	-	34803152	7	5	248	1	0	1	0	1	0	0	0	0	16965	131	5	0	777	0	UHRF1BP1	6	34803152	Frame_Shift_Del	DEL	A	TCGA-HT-7601-01A-11D-2086-08		34803152	136311915	5	28603											
TCP10L2	401285	broad.mit.edu	37	chr6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatcttcccgaagtcTgcaaaactccggtggcagaa	9	13	2	1	rs2989545	byFrequency	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(682-684)cTg>cCg		t-complex 10-like 2							22	25	24					6																	167592524		692	1586	2278	SO:0001583	missense	401285							g.chr6:167592524T>C		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.683T>C	6.37:g.167592524T>C	ENSP00000355797:p.Leu228Pro						p.L228P	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	814	+			228						Missense_Mutation	SNP	ENST00000366832.2	37	c.683T>C	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	N	3.564	-0.089011	0.07097	.	.	ENSG00000166984	ENST00000366832	T	0.19669	2.13	1.87	0.683	0.17998	.	.	.	.	.	T	0.03095	0.0091	N	0.11201	0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	8	0.48119	T	0.1	.	5.4648	0.16637	0.0:0.1826:0.0:0.8174	rs2989545;rs59337236	228	B9ZVM9	TCP2L_HUMAN	P	228	ENSP00000355797:L228P	ENSP00000283507:L228P	L	+	2	0	TCP10L2	167512514	0.002000	0.14202	0.006000	0.13384	0.011000	0.07611	0.093000	0.15086	-0.165000	0.10908	-1.687000	0.00730	CTG		0.602	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		3	31	0	0	0	1	0	3	31					C	167592524	T	C	167592524	3	2	248	1	0	0	0	0	1	0	0	0	15709	1580	55	3	701	3	TCP10L2	6	167592524	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	132789372	167592524	3522543	6	28604											
AOAH	313	broad.mit.edu	37	chr7	36570027	36570027	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaacaaagctacttactttCatggaaggcaaaatccatgt	6	9	1	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:36570027C>A	ENST00000258749.5	-	19	1918	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	AOAH_ENST00000491444.1_5'Flank|AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*|AOAH_ENST00000431169.1_Nonsense_Mutation_p.E507*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	507					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TACTTACTTTCATGGAAGGCA	0.408																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(1519-1521)Gaa>Taa		acyloxyacyl hydrolase (neutrophil)							86	83	84					7																	36570027		2202	4300	6502	SO:0001587	stop_gained	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36570027C>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1519G>T	7.37:g.36570027C>A	ENSP00000258749:p.Glu507*					AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.E507*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*	p.E507*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			19	1819	-			507					A4D1Y5|B7Z490|Q53F13	Nonsense_Mutation	SNP	ENST00000258749.5	37	c.1519G>T	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186894	0.94923	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	.	.	.	5.6	5.6	0.85130	.	0.417340	0.25117	N	0.033003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.4832	0.75545	0.0:1.0:0.0:0.0	.	.	.	.	X	229;475;507;507;507	.	ENSP00000258749:E507X	E	-	1	0	AOAH	36536552	0.776000	0.28616	1.000000	0.80357	0.885000	0.51271	0.717000	0.25851	2.818000	0.97014	0.655000	0.94253	GAA		0.408	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		4	71	1	0	0.150653	1	0.150653	4	71					A	36570027	C	A	36570027	4	1	248	1	0	0	0	0	0	1	0	0	726	835	29	4	561	4	AOAH	7	36570027	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		36570027	122568636	7	28605											
NOM1	64434	broad.mit.edu	37	chr7	156742958	156742958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggaaacgggcgctttTagcggcgaacgaggaggagg	18	9	0	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:156742958T>C	ENST00000275820.3	+	1	542	c.527T>C	c.(526-528)tTa>tCa	p.L176S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	176	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					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)		CGGGCGCTTTTAGCGGCGAAC	0.672																																						ENST00000275820.3																			0				endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(526-528)tTa>tCa		nucleolar protein with MIF4G domain 1							40	49	46					7																	156742958		2197	4294	6491	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156742958T>C	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.527T>C	7.37:g.156742958T>C	ENSP00000275820:p.Leu176Ser						p.L176S	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	542	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	176			Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.527T>C	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417317	0.62622	.	.	ENSG00000146909	ENST00000275820	T	0.12255	2.7	4.19	3.02	0.34903	.	0.090425	0.46442	D	0.000298	T	0.26159	0.0638	M	0.64997	1.995	0.58432	D	0.999991	D	0.89917	1.0	D	0.72075	0.976	T	0.17868	-1.0355	10	0.08837	T	0.75	-11.8879	9.6184	0.39706	0.0:0.0837:0.0:0.9163	.	176	Q5C9Z4	NOM1_HUMAN	S	176	ENSP00000275820:L176S	ENSP00000275820:L176S	L	+	2	0	NOM1	156435719	1.000000	0.71417	0.946000	0.38457	0.987000	0.75469	4.043000	0.57354	0.645000	0.30675	0.529000	0.55759	TTA		0.672	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		18	62	0	0	0	1	0	18	62					C	156742958	T	C	156742958	3	2	248	1	0	0	0	0	1	0	0	0	10530	1764	61	3	529	3	NOM1	7	156742958	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	120172931	156742958	2395705	8	28606											
KCNB2	9312	broad.mit.edu	37	chr8	73849082	73849082	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaagtgggccaggaagGctctgtcggaaacaagctcc	16	9	1	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:73849082G>C	ENST00000523207.1	+	3	2080	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	498					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)	GGCCAGGAAGGCTCTGTCGGA	0.542																																						ENST00000523207.1																			0				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						c.(1492-1494)Gct>Cct		potassium voltage-gated channel, Shab-related subfamily, member 2							106	115	112					8																	73849082		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849082G>C	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.1492G>C	8.37:g.73849082G>C	ENSP00000430846:p.Ala498Pro						p.A498P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2080	+	Breast(64;0.137)		498					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1492G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268005	0.23136	.	.	ENSG00000182674	ENST00000523207	T	0.28255	1.62	5.47	5.47	0.80525	.	0.790783	0.10624	N	0.653040	T	0.37679	0.1012	L	0.29908	0.895	0.23341	N	0.997878	P	0.48834	0.916	P	0.57846	0.828	T	0.17592	-1.0364	10	0.33141	T	0.24	.	9.6152	0.39687	0.1607:0.0:0.8393:0.0	.	498	Q92953	KCNB2_HUMAN	P	498	ENSP00000430846:A498P	ENSP00000430846:A498P	A	+	1	0	KCNB2	74011636	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.679000	0.54634	2.553000	0.86117	0.655000	0.94253	GCT		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		36	94	0	0	0	1	0	36	94					C	73849082	G	C	73849082	3	2	248	1	0	0	0	0	1	0	0	0	8013	1203	42	4	1498	4	KCNB2	8	73849082	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		73849082	72514940	9	28607											
TCEB1	6921	broad.mit.edu	37	chr8	74858991	74858991	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaaaatacatgcatactttCgatagcacatgtgaaggtat	8	6	0	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:74858991C>T	ENST00000522337.1	-	5	532	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000520242.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Silent_p.S71S|TCEB1_ENST00000284811.8_Silent_p.S71S			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|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 elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGCATACTTTCGATAGCACAT	0.398																																						ENST00000518127.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(211-213)tcG>tcA		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							98	82	87					8																	74858991		2203	4300	6503	SO:0001819	synonymous_variant	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74858991C>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.213G>A	8.37:g.74858991C>T						TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000522337.1_Silent_p.S71S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000284811.8_Silent_p.S71S|TCEB1_ENST00000520242.1_Silent_p.S71S	p.S71S	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	305	-	Breast(64;0.0311)		71					E5RGD9|Q567Q6	Silent	SNP	ENST00000522337.1	37	c.213G>A	CCDS34910.1																																																																																				0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		3	52	0	0	0	1	0	3	52					T	74858991	C	T	74858991	2	4	248	1	0	0	0	0	0	0	0	1	15676	871	31	1		1	TCEB1	8	74858991	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	1009909	74858991	71505031	10	28608											
COL14A1	7373	broad.mit.edu	37	chr8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagaaattgatgaggtgaCgacagacagttttagggtga	13	4	0	6			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000537875.1_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)			GATGAGGTGACGACAGACAGT	0.483																																						ENST00000297848.3																			0				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						c.(1906-1908)aCg>aTg		collagen, type XIV, alpha 1							95	86	89					8																	121238908		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121238908C>T		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.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met					COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	p.T636M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		16	2177	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		636		T -> A (in dbSNP:rs56815167).	Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1907C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568018	0.45798	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549752	0.18638	N	0.135373	T	0.61060	0.2317	M	0.82517	2.595	0.80722	D	1	B;B	0.22851	0.076;0.036	B;B	0.19946	0.027;0.015	T	0.59783	-0.7389	10	0.59425	D	0.04	.	12.8014	0.57588	0.4222:0.5778:0.0:0.0	.	636;636	Q05707-2;Q05707	.;COEA1_HUMAN	M	636;636;541;449	ENSP00000311809:T636M;ENSP00000297848:T636M;ENSP00000247781:T541M;ENSP00000409461:T449M	ENSP00000247781:T541M	T	+	2	0	COL14A1	121308089	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.518000	0.35877	0.512000	0.28257	0.557000	0.71058	ACG		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		25	51	0	0	0	1	0	25	51					T	121238908	C	T	121238908	3	4	248	1	0	0	0	0	1	0	0	0	3671	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	46379917	121238908	25125114	11	28609											
KIAA0196	9897	broad.mit.edu	37	chr8	126075804	126075804	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggggtttcactcctgaaaaGacatcagcaagctcagtcat	9	10	4	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:126075804G>C	ENST00000318410.7	-	11	1717	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	KIAA0196_ENST00000517845.1_Silent_p.V308V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	456					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)			CTCCTGAAAAGACATCAGCAA	0.423																																						ENST00000318410.7																			0				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						c.(1366-1368)gtC>gtG		KIAA0196							156	144	148					8																	126075804		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126075804G>C		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.1368C>G	8.37:g.126075804G>C						KIAA0196_ENST00000517845.1_Silent_p.V308V	p.V456V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		11	1717	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		456					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.1368C>G	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172675	0.21704	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.83	4.96	0.65561	.	.	.	.	.	T	0.62732	0.2452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61272	-0.7096	4	.	.	.	-24.6266	11.0386	0.47816	0.1411:0.0:0.8589:0.0	.	.	.	.	C	73	.	.	S	-	2	0	KIAA0196	126144986	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.239000	0.43079	1.485000	0.48380	0.561000	0.74099	TCT		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		58	126	0	0	0	1	0	58	126					C	126075804	G	C	126075804	2	2	248	1	0	0	0	0	0	0	0	1	8161	929	33	4		4	KIAA0196	8	126075804	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4836896	126075804	20288218	12	28610											
ABTB2	25841	broad.mit.edu	37	chr11	34182569	34182569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcaccaccgagtaccGcgactgcgagaacgaggtcc	12	15	1	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:34182569G>A	ENST00000435224.2	-	11	2702	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	760					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)				ACCGAGTACCGCGACTGCGAG	0.617																																						ENST00000435224.2																			0				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						c.(2278-2280)Cgg>Tgg		ankyrin repeat and BTB (POZ) domain containing 2							75	62	66					11																	34182569		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34182569G>A	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.2278C>T	11.37:g.34182569G>A	ENSP00000410157:p.Arg760Trp					ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	p.R760W	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			11	2702	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	574					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2278C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834209	0.71373	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.63255	-0.02;-0.03	5.15	3.23	0.37069	.	0.051879	0.64402	D	0.000001	T	0.73583	0.3605	M	0.72894	2.215	0.51767	D	0.999935	D	0.89917	1.0	P	0.59288	0.855	T	0.76152	-0.3064	10	0.66056	D	0.02	-17.1433	14.1645	0.65469	0.0:0.0:0.7272:0.2728	.	574	Q8N961	ABTB2_HUMAN	W	760;574	ENSP00000410157:R760W;ENSP00000298992:R574W	ENSP00000298992:R574W	R	-	1	2	ABTB2	34139145	0.998000	0.40836	0.617000	0.29091	0.989000	0.77384	2.741000	0.47426	0.538000	0.28769	0.561000	0.74099	CGG		0.617	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		3	21	0	0	0	1	0	3	21					A	34182569	G	A	34182569	3	1	248	1	0	0	0	0	1	0	0	0	103	1086	38	1	827	1	ABTB2	11	34182569	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		34182569	100823947	13	28611											
CPSF7	79869	broad.mit.edu	37	chr11	61183777	61183777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggataccaggaggaggaggAgggaccccaaagcttgagga	17	7	0	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:61183777A>G	ENST00000394888.4	-	6	937	c.765T>C	c.(763-765)ccT>ccC	p.P255P	CPSF7_ENST00000448745.1_Silent_p.P246P|CPSF7_ENST00000340437.4_Silent_p.P298P|CPSF7_ENST00000439958.3_Silent_p.P246P	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	255	Pro-rich.				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						GAGGAGGAGGAGGGACCCCAA	0.617																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(892-894)ccT>ccC		cleavage and polyadenylation specific factor 7, 59kDa							45	49	48					11																	61183777		2202	4299	6501	SO:0001819	synonymous_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183777A>G		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.765T>C	11.37:g.61183777A>G						CPSF7_ENST00000448745.1_Silent_p.P246P|CPSF7_ENST00000394888.4_Silent_p.P255P|CPSF7_ENST00000439958.3_Silent_p.P246P	p.P298P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	974	-			255			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	c.894T>C	CCDS44619.1																																																																																				0.617	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		3	68	0	0	0	1	0	3	68					G	61183777	A	G	61183777	2	3	248	1	0	0	0	0	0	0	0	1	3830	291	11	3		3	CPSF7	11	61183777	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27001208	61183777	73822739	14	28612											
PITPNM1	9600	broad.mit.edu	37	chr11	67269773	67269773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcctcacccaggatgcgCtgtctcctctcggccccgct	10	19	3	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:67269773C>T	ENST00000534749.1	-	3	593	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PITPNM1_ENST00000436757.2_Silent_p.Q135Q|PITPNM1_ENST00000356404.3_Silent_p.Q135Q			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	135					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGGATGCGCTGTCTCCTCT	0.612																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(403-405)caG>caA		phosphatidylinositol transfer protein, membrane-associated 1							56	55	55					11																	67269773		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269773C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.405G>A	11.37:g.67269773C>T						PITPNM1_ENST00000534749.1_Silent_p.Q135Q|PITPNM1_ENST00000436757.2_Silent_p.Q135Q	p.Q135Q	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			4	630	-			135					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.405G>A	CCDS31620.1																																																																																				0.612	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		23	53	0	0	0	1	0	23	53					T	67269773	C	T	67269773	2	4	248	1	0	0	0	0	0	0	0	1	11950	796	28	2		2	PITPNM1	11	67269773	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	6085996	67269773	67736743	15	28613											
HEPHL1	341208	broad.mit.edu	37	chr11	93822035	93822035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagcggtacgggatgaTaagaactttttacatcgccg	12	8	0	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:93822035T>C	ENST00000315765.9	+	12	2203	c.2195T>C	c.(2194-2196)aTa>aCa	p.I732T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	732	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGGATGATAAGAACTTTT	0.517																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2194-2196)aTa>aCa		hephaestin-like 1							89	90	90					11																	93822035		1930	4146	6076	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93822035T>C	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2195T>C	11.37:g.93822035T>C	ENSP00000313699:p.Ile732Thr						p.I732T	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			12	2203	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	732			Plastocyanin-like 5.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2195T>C	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	8.590	0.884364	0.17467	.	.	ENSG00000181333	ENST00000315765	D	0.98889	-5.21	5.53	4.36	0.52297	Cupredoxin (2);	0.372522	0.32736	N	0.005716	D	0.92954	0.7758	N	0.03029	-0.43	0.29173	N	0.876999	B	0.06786	0.001	B	0.06405	0.002	D	0.85993	0.1490	10	0.14252	T	0.57	.	11.9019	0.52688	0.1302:0.0:0.0:0.8698	.	732	Q6MZM0	HPHL1_HUMAN	T	732	ENSP00000313699:I732T	ENSP00000313699:I732T	I	+	2	0	HEPHL1	93461683	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.197000	0.58413	2.103000	0.63969	0.374000	0.22700	ATA		0.517	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		23	65	0	0	0	1	0	23	65					C	93822035	T	C	93822035	3	2	248	1	0	0	0	0	1	0	0	0	7055	1406	49	3	2241	3	HEPHL1	11	93822035	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	26552262	93822035	41184481	16	28614											
ACVRL1	94	broad.mit.edu	37	chr12	52309001	52309008	+	Splice_Site	DEL	GCACACAG	GCACACAG	-													ctgagtcacccaacctttctGcacacaggcttcatcgcctc					rs372753267		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:52309001_52309008delGCACACAG	ENST00000388922.4	+	7	1055		c.e7-1		ACVRL1_ENST00000419526.2_Splice_Site|ACVRL1_ENST00000550683.1_Splice_Site	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1						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)	CAACCTTTCTGCACACAGGCTTCATCGC	0.615																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20	GRCh37	CS040830	ACVRL1	S		c.e6-1		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)																																			SO:0001630	splice_region_variant	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309001_52309008delGCACACAG	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.773-1GCACACAG>-	12.37:g.52309001_52309008delGCACACAG						ACVRL1_ENST00000388922.4_Splice_Site|ACVRL1_ENST00000419526.2_Splice_Site		NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	915	+								A6NGA8	Splice_Site	DEL	ENST00000388922.4	37		CCDS31804.1																																																																																				0.615	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		Intron	8	38						8	38	---	---	---	---	-	52309008	GCACACAG	-	52309001	8	5	248	1	0	1	0	1	0	0	1	0	225	1334	46	0		0	ACVRL1	12	52309001	Splice_Site	DEL	GCACACAG	TCGA-HT-7601-01A-11D-2086-08		52309001	81542894	17	28615											
GJB2	2706	broad.mit.edu	37	chr13	20763148	20763148	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgcaatcatgaacactgtGaagacagtcttctccgtggg	10	10	3	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763148G>A	ENST00000382844.1	-	1	771	c.573C>T	c.(571-573)ttC>ttT	p.F191F	GJB2_ENST00000382848.4_Silent_p.F191F			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	191			F -> L. {ECO:0000269|PubMed:12560944}.		cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TGAACACTGTGAAGACAGTCT	0.488									Keratitis, Ichthyosis and Deafness syndrome																													ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(571-573)ttC>ttT		gap junction protein, beta 2, 26kDa							56	55	55					13																	20763148		2203	4300	6503	SO:0001819	synonymous_variant	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763148G>A	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.573C>T	13.37:g.20763148G>A						GJB2_ENST00000382848.4_Silent_p.F191F	p.F191F			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	771	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	191		F -> L.			Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Silent	SNP	ENST00000382844.1	37	c.573C>T	CCDS9290.1																																																																																				0.488	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			4	66	0	0	0	1	0	4	66					A	20763148	G	A	20763148	2	1	248	1	0	0	0	0	0	0	0	1	6408	1281	45	2		2	GJB2	13	20763148	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08		20763148	94406730	18	28616											
GJB2	2706	broad.mit.edu	37	chr13	20763400	20763400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcactctttatctcccccttGatgaacttcctcttcttctc	2	16	6	2	rs111033253		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763400G>C	ENST00000382844.1	-	1	519	c.321C>G	c.(319-321)atC>atG	p.I107M	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	107					cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TCTCCCCCTTGATGAACTTCC	0.547									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382844.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(319-321)atC>atG		gap junction protein, beta 2, 26kDa							101	94	96					13																	20763400		2203	4300	6503	SO:0001583	missense	0	Keratitis, Ichthyosis and Deafness syndrome	Familial Cancer Database	KID syndrome	cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane		g.chr13:20763400G>C	M86849	CCDS9290.1	13q11-q12	2010-01-06	2007-01-16		ENSG00000165474	ENSG00000165474		"Ion channels / Gap junction proteins (connexins)"	4284	protein-coding gene	gene with protein product	"connexin 26"	121011	"gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)"	DFNB1, DFNA3		9139825	Standard	NM_004004		Approved	CX26, NSRD1	uc001umy.3	P29033	OTTHUMG00000016513	ENST00000382844.1:c.321C>G	13.37:g.20763400G>C	ENSP00000372295:p.Ile107Met		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	743	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M	p.I107M			P29033	CXB2_HUMAN		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)	1	519	-		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	107					Q508A5|Q508A6|Q5YLL0|Q5YLL1|Q5YLL4|Q6IPV5|Q86U88|Q96AK0|Q9H536|Q9NNY4	Missense_Mutation	SNP	ENST00000382844.1	37	c.321C>G	CCDS9290.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294984	0.23564	.	.	ENSG00000165474	ENST00000382848;ENST00000382844	D;D	0.97529	-4.42;-4.42	5.33	-10.7	0.00240	.	0.279378	0.31167	N	0.008129	D	0.87341	0.6153	N	0.19112	0.55	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.73943	-0.3823	10	0.34782	T	0.22	.	1.7403	0.02951	0.4729:0.1573:0.1667:0.2032	.	107	P29033	CXB2_HUMAN	M	107	ENSP00000372299:I107M;ENSP00000372295:I107M	ENSP00000372295:I107M	I	-	3	3	GJB2	19661400	0.000000	0.05858	0.148000	0.22405	0.948000	0.59901	-1.824000	0.01708	-3.039000	0.00264	-0.137000	0.14449	ATC		0.547	GJB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044064.1			3	74	0	0	0	1	0	3	74					C	20763400	G	C	20763400	3	2	248	1	0	0	0	0	1	0	0	0	6408	1280	45	4	363	4	GJB2	13	20763400	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	252	20763400	94406478	19	28617											
IPO5	3843	broad.mit.edu	37	chr13	98658457	98658457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagttgccgatactgcagAagaaaaatttgtcccctact	7	10	1	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:98658457A>G	ENST00000490680.1	+	14	1636	c.1571A>G	c.(1570-1572)gAa>gGa	p.E524G	IPO5_ENST00000261574.5_Missense_Mutation_p.E542G|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	524					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						GATACTGCAGAAGAAAAATTT	0.388																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1624-1626)gAa>gGa		importin 5							139	135	136					13																	98658457		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658457A>G	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.1571A>G	13.37:g.98658457A>G	ENSP00000418393:p.Glu524Gly					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G|IPO5_ENST00000490680.1_Missense_Mutation_p.E524G	p.E542G	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1805	+			524					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1625A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.164767|5.164767	0.94727|0.94727	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68915|0.68915	0.3053|0.3053	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	D;D;D|.	0.62365|.	0.989;0.985;0.991|.	D;P;D|.	0.64687|.	0.928;0.768;0.927|.	T|T	0.67753|0.67753	-0.5589|-0.5589	10|5	0.87932|.	D|.	0|.	-0.7175|-0.7175	15.1685|15.1685	0.72850|0.72850	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	399;524;542|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	G|E	542;524;524;399|526	ENSP00000261574:E542G;ENSP00000350219:E524G;ENSP00000418393:E524G;ENSP00000445126:E399G|.	ENSP00000261574:E542G|.	E|K	+|+	2|1	0|0	IPO5|IPO5	97456458|97456458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.191000|9.191000	0.94940|0.94940	2.042000|2.042000	0.60477|0.60477	0.377000|0.377000	0.23210|0.23210	GAA|AAG		0.388	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		15	150	0	0	0	1	0	15	150					G	98658457	A	G	98658457	3	3	248	1	0	0	0	0	1	0	0	0	7796	246	9	3	1683	3	IPO5	13	98658457	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	77895057	98658457	16511421	20	28618											
TCF12	6938	broad.mit.edu	37	chr15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-													cagaaatcaagactgaaaacAaagaaaaggatgaaaacctt							TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.KE523fs	TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914). {ECO:0000305}.	immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1567-1572)aafs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57555366_57555369delAAAG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1567_1570delAAAG	15.37:g.57555366_57555369delAAAG	ENSP00000267811:p.Lys523fs					TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs	p.KE523fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1871_1874	+		Colorectal(260;0.0907)	523	K -> E (in Ref. 3; CAD89914).				Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.1567_1570delAAAG	CCDS10159.1																																																																																				0.382	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		17	25						17	25	---	---	---	---	-	57555369	AAAG	-	57555366	7	5	248	1	0	1	0	1	0	0	0	0	15684	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-HT-7601-01A-11D-2086-08		57555366	44976026	21	28619											
MCTP2	55784	broad.mit.edu	37	chr15	94841633	94841633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcatcacttggaccgcCgtctcagcctctctgtgcct	9	16	3	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:94841633C>T	ENST00000357742.4	+	1	139	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	47					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)			CTTGGACCGCCGTCTCAGCCT	0.592																																						ENST00000357742.4																			0				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						c.(139-141)Cgt>Tgt		multiple C2 domains, transmembrane 2							63	66	65					15																	94841633		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841633C>T	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.139C>T	15.37:g.94841633C>T	ENSP00000350377:p.Arg47Cys					MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C|MCTP2_ENST00000331706.4_5'UTR	p.R47C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	139	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		47					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.139C>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079955	0.55753	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.71934	-0.61;-0.32;-0.15	5.17	4.24	0.50183	.	0.000000	0.51477	D	0.000091	T	0.72637	0.3485	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.997;0.999;1.0	P;P;P;P;D	0.63703	0.721;0.897;0.745;0.745;0.917	T	0.74269	-0.3720	10	0.87932	D	0	.	9.4183	0.38534	0.1453:0.7779:0.0:0.0768	.	47;47;47;47;47	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	C	47	ENSP00000438521:R47C;ENSP00000395109:R47C;ENSP00000350377:R47C	ENSP00000350377:R47C	R	+	1	0	MCTP2	92642637	0.671000	0.27521	0.957000	0.39632	0.392000	0.30506	1.338000	0.33873	1.161000	0.42604	0.655000	0.94253	CGT		0.592	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		6	54	0	0	0	1	0	6	54					T	94841633	C	T	94841633	3	4	248	1	0	0	0	0	1	0	0	0	9401	652	23	1	141	1	MCTP2	15	94841633	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	37286267	94841633	7689759	22	28620											
CPNE2	221184	broad.mit.edu	37	chr16	57147304	57147304	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagaagctcaagttcgcgctCtttgaccaggacaagtccag	10	12	2	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:57147304C>G	ENST00000535318.2	+	4	646	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	95	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCGCGCTCTTTGACCAGG	0.582																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(283-285)ctC>ctG		copine II							122	93	103					16																	57147304		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57147304C>G		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.285C>G	16.37:g.57147304C>G						CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L	p.L95L			Q96FN4	CPNE2_HUMAN			4	646	+		all_neural(199;0.224)	95			C2 1.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.285C>G	CCDS10774.1																																																																																				0.582	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		9	53	0	0	0	1	0	9	53					G	57147304	C	G	57147304	2	3	248	1	0	0	0	0	0	0	0	1	3812	900	32	4		4	CPNE2	16	57147304	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		57147304	33207449	23	28621											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	12	0	0	0	1	0	21	12					A	7577121	G	A	7577121	3	1	248	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		7577121	73618089	24	28622											
SLC6A4	6532	broad.mit.edu	37	chr17	28545875	28545875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatttcggtggtactgtcCcagtgcgagctccatgtaaa	10	11	0	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:28545875C>T	ENST00000401766.2	-	3	930	c.418G>A	c.(418-420)Gga>Aga	p.G140R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	140					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TGGTACTGTCCCAGTGCGAGC	0.507																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(418-420)Gga>Aga		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						132	128	129					17																	28545875		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28545875C>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.418G>A	17.37:g.28545875C>T	ENSP00000385822:p.Gly140Arg					SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R	p.G140R			P31645	SC6A4_HUMAN			3	930	-			140					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.418G>A	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307305	0.95629	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	D;D	0.97924	-4.61;-4.61	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.87932	D	0	.	18.8371	0.92167	0.0:1.0:0.0:0.0	.	140	P31645	SC6A4_HUMAN	R	182;140;140	ENSP00000385822:G140R;ENSP00000261707:G140R	ENSP00000261707:G140R	G	-	1	0	SLC6A4	25570001	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	GGA		0.507	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		64	140	0	0	0	1	0	64	140					T	28545875	C	T	28545875	3	4	248	1	0	0	0	0	1	0	0	0	14686	632	22	2	1522	2	SLC6A4	17	28545875	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	20968754	28545875	52649335	25	28623											
SMARCE1	6605	broad.mit.edu	37	chr17	38792704	38792704	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatcagtgagatctcgCcacatgccaccaataatctt	5	13	5	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:38792704C>T	ENST00000348513.6	-	6	1092	c.312G>A	c.(310-312)tgG>tgA	p.W104*	SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	104					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGAGATCTCGCCACATGCCAC	0.408																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(310-312)tgG>tgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							184	169	174					17																	38792704		2203	4300	6503	SO:0001587	stop_gained	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38792704C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.312G>A	17.37:g.38792704C>T	ENSP00000323967:p.Trp104*					SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*	p.W104*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			6	1092	-		Breast(137;0.000812)	104					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Nonsense_Mutation	SNP	ENST00000348513.6	37	c.312G>A	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	C	37	6.598233	0.97692	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	104;34;86;69	.	ENSP00000323967:W104X	W	-	3	0	SMARCE1	36046230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.873000	0.98535	0.561000	0.74099	TGG		0.408	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		8	149	0	0	0	1	0	8	149					T	38792704	C	T	38792704	4	4	248	1	0	0	0	0	0	1	0	0	14780	740	26	2	947	2	SMARCE1	17	38792704	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	10246829	38792704	42402506	26	28624											
PRKAR1A	5573	broad.mit.edu	37	chr17	66525030	66525030	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagtctctggacaagtgggaAcgtcttacggtagctgatgc	14	8	2	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:66525030A>T	ENST00000589228.1	+	9	917	c.789A>T	c.(787-789)gaA>gaT	p.E263D	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAGTGGGAACGTCTTACGG	0.398			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"T, Mis, N, F, S"	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"			"E, M"	RET	"myxoma, endocrine, papillary thyroid"	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(787-789)gaA>gaT		protein kinase, cAMP-dependent, regulatory, type I, alpha							161	154	157					17																	66525030		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66525030A>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.789A>T	17.37:g.66525030A>T	ENSP00000464977:p.Glu263Asp					PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D	p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			9	917	+	Breast(10;1.64e-13)		263					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.789A>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.402891	0.83230	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	T;T;T	0.73789	-0.78;-0.78;-0.78	5.89	-2.22	0.06952	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.86343	2.81	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.68483	0.958;0.958	D	0.86065	0.1534	10	0.62326	D	0.03	-31.0568	14.6562	0.68835	0.2169:0.0:0.7831:0.0	.	263;263	B2R5T5;P10644	.;KAP0_HUMAN	D	263	ENSP00000351410:E263D;ENSP00000376475:E263D;ENSP00000445625:E263D	ENSP00000351410:E263D	E	+	3	2	PRKAR1A	64036625	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	1.493000	0.35605	-0.343000	0.08351	-0.256000	0.11100	GAA		0.398	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			13	115	0	0	0	1	0	13	115					T	66525030	A	T	66525030	3	4	248	1	0	0	0	0	1	0	0	0	12503	40	2	5	819	5	PRKAR1A	17	66525030	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27732326	66525030	14670180	27	28625											
SDK2	54549	broad.mit.edu	37	chr17	71418471	71418471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccccacgtcgttgacgGcacaaagacggaactggtag	11	12	0	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:71418471G>A	ENST00000392650.3	-	15	2000	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V	SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	667	Fibronectin type-III 1. {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						GTCGTTGACGGCACAAAGACG	0.617																																						ENST00000392650.3																			0				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						c.(1999-2001)gCc>gTc		sidekick cell adhesion molecule 2							148	119	129					17																	71418471		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71418471G>A	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.2000C>T	17.37:g.71418471G>A	ENSP00000376421:p.Ala667Val					SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			15	2000	-			667			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2000C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264479	0.95399	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.68624	-0.34;-0.34	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.91978	0.5592	10	0.87932	D	0	.	18.1572	0.89696	0.0:0.0:1.0:0.0	.	667;667	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	291;667;667;667	ENSP00000376421:A667V;ENSP00000373378:A667V	ENSP00000324967:A667V	A	-	2	0	SDK2	68930066	1.000000	0.71417	0.946000	0.38457	0.939000	0.58152	9.388000	0.97237	2.373000	0.80994	0.462000	0.41574	GCC		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	82	0	0	0	1	0	4	82					A	71418471	G	A	71418471	3	1	248	1	0	0	0	0	1	0	0	0	13969	1203	42	2	4642	2	SDK2	17	71418471	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4893441	71418471	9776739	28	28626											
LLGL2	3993	broad.mit.edu	37	chr17	73567818	73567818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgccttctccctgcgtgtGcctcccgccgagcggagaat	11	15	1	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:73567818G>A	ENST00000392550.3	+	18	2364	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	LLGL2_ENST00000167462.5_Silent_p.V749V|LLGL2_ENST00000577200.1_Silent_p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	749					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)			CCCTGCGTGTGCCTCCCGCCG	0.672																																						ENST00000392550.3																			0				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						c.(2245-2247)gtG>gtA		lethal giant larvae homolog 2 (Drosophila)							33	33	33					17																	73567818		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567818G>A	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.2247G>A	17.37:g.73567818G>A						LLGL2_ENST00000577200.1_Silent_p.V749V|LLGL2_ENST00000167462.5_Silent_p.V749V	p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		18	2364	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		749					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.2247G>A	CCDS32733.1																																																																																				0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		7	72	0	0	0	1	0	7	72					A	73567818	G	A	73567818	2	1	248	1	0	0	0	0	0	0	0	1	8834	1306	46	2		2	LLGL2	17	73567818	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	2149347	73567818	7627392	29	28627											
LAMA1	284217	broad.mit.edu	37	chr18	6986294	6986294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaatacctccaattcttCcagcggcttctggtaatttt	5	11	3	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr18:6986294C>T	ENST00000389658.3	-	37	5314	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1741	Domain II and I.				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)				TCCAATTCTTCCAGCGGCTTC	0.428																																						ENST00000389658.3																			0				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						c.(5221-5223)Gaa>Aaa		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103	95	98					18																	6986294		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6986294C>T	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.5221G>A	18.37:g.6986294C>T	ENSP00000374309:p.Glu1741Lys						p.E1741K	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			37	5314	-		Colorectal(10;0.172)	1741			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5221G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	c	0.111	-1.138751	0.01742	.	.	ENSG00000101680	ENST00000389658	T	0.11385	2.78	5.5	-0.0174	0.13968	Laminin I (1);	0.439500	0.24769	N	0.035748	T	0.07999	0.0200	L	0.51422	1.61	0.28015	N	0.934753	B	0.11235	0.004	B	0.12156	0.007	T	0.42032	-0.9475	10	0.09590	T	0.72	.	7.5063	0.27547	0.0:0.3143:0.4485:0.2373	.	1741	P25391	LAMA1_HUMAN	K	1741	ENSP00000374309:E1741K	ENSP00000374309:E1741K	E	-	1	0	LAMA1	6976294	1.000000	0.71417	0.478000	0.27316	0.042000	0.13812	1.848000	0.39309	0.103000	0.17682	0.650000	0.86243	GAA		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	94	0	0	0	1	0	4	94					T	6986294	C	T	6986294	3	4	248	1	0	0	0	0	1	0	0	0	8605	864	30	2	4114	2	LAMA1	18	6986294	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		6986294	71090954	30	28628											
LIPE	3991	broad.mit.edu	37	chr19	42930578	42930578	+	Missense_Mutation	SNP	A	A	T													ggctggagaatctgtgtctgAagatgatcccacatctgatt							TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930578A>T	ENST00000244289.4	-	1	1000	c.724T>A	c.(724-726)Tca>Aca	p.S242T	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	242					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)				TCTGTGTCTGAAGATGATCCC	0.473																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(724-726)Tca>Aca		lipase, hormone-sensitive							117	115	116					19																	42930578		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930578A>T	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.724T>A	19.37:g.42930578A>T	ENSP00000244289:p.Ser242Thr					LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.S242T	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	1000	-		Prostate(69;0.00682)	242					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.724T>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	7.671	0.686992	0.14973	.	.	ENSG00000079435	ENST00000244289	T	0.04119	3.7	3.58	2.52	0.30459	.	1.328570	0.05782	N	0.608744	T	0.05364	0.0142	L	0.50333	1.59	0.09310	N	1	B	0.32620	0.378	B	0.24006	0.05	T	0.44907	-0.9297	10	0.20519	T	0.43	0.5269	6.8275	0.23891	0.7606:0.2394:0.0:0.0	.	242	Q05469	LIPS_HUMAN	T	242	ENSP00000244289:S242T	ENSP00000244289:S242T	S	-	1	0	LIPE	47622418	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	0.375000	0.20518	0.683000	0.31428	0.533000	0.62120	TCA		0.473	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		41	59	0	0	0	1	0	41	59					T	42930578	A	T	42930578	3	4	248	1	0	0	0	0	1	0	0	0	8821	246	9	5	2546	5	LIPE	19	42930578	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		42930578	16198405	31	28629	135	2									
LIPE	3991	broad.mit.edu	37	chr19	42930579	42930579	+	Silent	SNP	A	A	T													gctggagaatctgtgtctgaAgatgatcccacatctgattc							TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930579A>T	ENST00000244289.4	-	1	999	c.723T>A	c.(721-723)tcT>tcA	p.S241S	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	241					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)				CTGTGTCTGAAGATGATCCCA	0.473																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(721-723)tcT>tcA		lipase, hormone-sensitive							118	116	117					19																	42930579		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930579A>T	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.723T>A	19.37:g.42930579A>T						LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.S241S	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	999	-		Prostate(69;0.00682)	241					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.723T>A	CCDS12607.1																																																																																				0.473	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		40	58	0	0	0	1	0	40	58					T	42930579	A	T	42930579	2	4	248	1	0	0	0	0	0	0	0	1	8821	59	3	5		5	LIPE	19	42930579	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	1	42930579	16198404	32	28630	135	2									
AKAP4	8852	broad.mit.edu	37	chrX	49957504	49957504	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacatatccattttctgggaGtccaggtgttggttctcctt	10	9	2	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:49957504G>C	ENST00000376056.2	-	5	1983	c.1833C>G	c.(1831-1833)gaC>gaG	p.D611E	AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E|AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTCTGGGAGTCCAGGTGTT	0.463																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1831-1833)gaC>gaG		A kinase (PRKA) anchor protein 4							140	119	126					X																	49957504		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957504G>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1833C>G	X.37:g.49957504G>C	ENSP00000365224:p.Asp611Glu					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E|AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E|AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E	p.D611E			Q5JQC9	AKAP4_HUMAN			5	1983	-	Ovarian(276;0.236)		620						Missense_Mutation	SNP	ENST00000376056.2	37	c.1833C>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.566190	0.00134	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.14	1.52	0.23074	A-kinase anchor 110kDa, C-terminal (1);	0.447175	0.20746	N	0.086457	T	0.04543	0.0124	N	0.16201	0.385	0.09310	N	1	B;B	0.25007	0.005;0.116	B;B	0.32393	0.015;0.145	T	0.44112	-0.9349	9	.	.	.	-4.0148	4.3736	0.11260	0.2818:0.1723:0.5458:0.0	.	620;237	Q5JQC9;A6ND82	AKAP4_HUMAN;.	E	611;237;620;611	ENSP00000365224:D611E;ENSP00000365226:D237E;ENSP00000351327:D620E;ENSP00000365232:D611E	.	D	-	3	2	AKAP4	49844244	1.000000	0.71417	0.008000	0.14137	0.052000	0.14988	0.994000	0.29693	-0.125000	0.11703	0.525000	0.51046	GAC		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		9	208	0	0	0	1	0	9	208					C	49957504	G	C	49957504	3	2	248	1	0	0	0	0	1	0	0	0	453	1020	36	4	712	4	AKAP4	23	49957504	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		49957504	105313056	33	28631											
KLHL13	90293	broad.mit.edu	37	chrX	117032912	117032912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctagaaggtgatggtgTggtttcttctggtggaaaaa	13	5	3	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:117032912T>G	ENST00000262820.3	-	7	2836	c.1927A>C	c.(1927-1929)Aca>Cca	p.T643P	KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000371876.1_Missense_Mutation_p.T592P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	643					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGATGGTGTGGTTTCTTCT	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1774-1776)Aca>Cca		kelch-like family member 13							196	179	184					X																	117032912		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117032912T>G	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1927A>C	X.37:g.117032912T>G	ENSP00000262820:p.Thr643Pro					KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P|KLHL13_ENST00000262820.3_Missense_Mutation_p.T643P	p.T592P			Q9P2N7	KLH13_HUMAN			6	4195	-			643					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1774A>C	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	7.982	0.751327	0.15778	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71103	-0.53;-0.53;-0.53;-0.53;-0.44;-0.44;-0.54;-0.54;-0.53;-0.53	5.25	4.09	0.47781	.	.	.	.	.	T	0.46171	0.1379	N	0.08118	0	0.33184	D	0.550005	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.50923	-0.8770	9	0.23302	T	0.38	.	6.844	0.23979	0.1413:0.0877:0.0:0.771	.	627;646;637;643	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	P	592;592;592;592;627;627;646;643;601;592	ENSP00000360949:T592P;ENSP00000360943:T592P;ENSP00000360945:T592P;ENSP00000412640:T592P;ENSP00000444450:T627P;ENSP00000441029:T627P;ENSP00000443191:T646P;ENSP00000262820:T643P;ENSP00000440707:T601P;ENSP00000419803:T592P	ENSP00000262820:T643P	T	-	1	0	KLHL13	116916940	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.486000	0.45259	1.931000	0.55961	0.486000	0.48141	ACA		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		12	135	0	0	0	1	0	12	135					G	117032912	T	G	117032912	3	3	248	1	0	0	0	0	1	0	0	0	8369	1696	59	5	44	5	KLHL13	23	117032912	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	67075408	117032912	38237648	34	28632											
PTPRF	5792	broad.mit.edu	37	chr1	44069662	44069662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcggagaggaacgggCgcatcatcagctacaccgtg	15	11	2	1	rs372831256		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:44069662C>T	ENST00000359947.4	+	16	3179	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	PTPRF_ENST00000372414.3_Missense_Mutation_p.R947C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R938C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R295C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R938C|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	947	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GAGGAACGGGCGCATCATCAG	0.602																																						ENST00000359947.4																			0				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						c.(2839-2841)Cgc>Tgc		protein tyrosine phosphatase, receptor type, F		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	96	79	85		2839,2812	4.2	1	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	947/1908,938/1899	44069662	1,13005	2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069662C>T	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.2839C>T	1.37:g.44069662C>T	ENSP00000353030:p.Arg947Cys					PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R938C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R947C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R938C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R295C	p.R947C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			16	3179	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	947			Fibronectin type-III 7.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.2839C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.168490|2.168490	0.38315|0.38315	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.57595	.|0.39;0.39;0.39;0.39;0.39	5.19|5.19	4.22|4.22	0.49857|0.49857	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.752409	.|0.10938	.|N	.|0.617652	T|T	0.68677|0.68677	0.3027|0.3027	M|M	0.83603|0.83603	2.65|2.65	0.45946|0.45946	D|D	0.998773|0.998773	.|D;D;D;D	.|0.61080	.|0.961;0.989;0.968;0.988	.|P;P;B;P	.|0.56788	.|0.806;0.606;0.219;0.79	T|T	0.66432|0.66432	-0.5925|-0.5925	5|10	.|0.39692	.|T	.|0.17	.|.	11.5321|11.5321	0.50616|0.50616	0.3496:0.6504:0.0:0.0|0.3496:0.6504:0.0:0.0	.|.	.|592;295;938;947	.|Q59FI2;F2Z3B8;P10586-2;P10586	.|.;.;.;PTPRF_HUMAN	V|C	360|947;938;947;938;295	.|ENSP00000353030:R947C;ENSP00000398822:R938C;ENSP00000361491:R947C;ENSP00000361490:R938C;ENSP00000387885:R295C	.|ENSP00000353030:R947C	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43842249|43842249	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.165000|0.165000	0.22458|0.22458	3.547000|3.547000	0.53663|0.53663	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	50	0	0	0	1	0	4	50					T	44069662	C	T	44069662	3	4	249	1	0	0	0	0	1	0	0	0	12801	768	27	1	2893	1	PTPRF	1	44069662	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		44069662	205180959	1	28633											
NBPF10	100132406	broad.mit.edu	37	chr1	145325986	145325986	+	Frame_Shift_Del	DEL	G	G	-													tgctggatgagaaagggcctGaagtcttgcaagactcactg							TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:145325986delG	ENST00000342960.5	+	30	3894	c.3859delG	c.(3859-3861)gaafs	p.E1287fs	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	630						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAAGGGCCTGAAGTCTTGCA	0.468																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3859-3861)aafs		neuroblastoma breakpoint family, member 10																																				SO:0001589	frameshift_variant	100132406							g.chr1:145325986delG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3859delG	1.37:g.145325986delG	ENSP00000345684:p.Glu1287fs					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E1287fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3894	+	all_hematologic(923;0.032)		1287					Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	ENST00000342960.5	37	c.3859delG	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	5						3	5	---	---	---	---	-	145325986	G	-	145325986	7	5	249	1	0	1	0	1	0	0	0	0	10193	1291	45	0	3977	0	NBPF10	1	145325986	Frame_Shift_Del	DEL	G	TCGA-HT-7602-01A-21D-2086-08	101256324	145325986	103924635	2	28634											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988753	154988753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcgcccctactcatgCccgcactgcccagcccgctt	10	19	1	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:154988753C>T	ENST00000368426.3	+	4	1349	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C	ZBTB7B_ENST00000292176.2_Silent_p.C404C|ZBTB7B_ENST00000535420.1_Silent_p.C404C|ZBTB7B_ENST00000417934.2_Silent_p.C438C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	404					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|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)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTACTCATGCCCGCACTGCC	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1210-1212)tgC>tgT		zinc finger and BTB domain containing 7B							114	99	104					1																	154988753		2203	4300	6503	SO:0001819	synonymous_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988753C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1212C>T	1.37:g.154988753C>T						ZBTB7B_ENST00000417934.2_Silent_p.C438C|ZBTB7B_ENST00000535420.1_Silent_p.C404C|ZBTB7B_ENST00000292176.2_Silent_p.C404C	p.C404C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1349	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		404					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.1212C>T	CCDS1081.1																																																																																				0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		4	121	0	0	0	1	0	4	121					T	154988753	C	T	154988753	2	4	249	1	0	0	0	0	0	0	0	1	17551	747	26	2		2	ZBTB7B	1	154988753	Silent	SNP	C	TCGA-HT-7602-01A-21D-2086-08	9662767	154988753	94261868	3	28635											
CEP350	9857	broad.mit.edu	37	chr1	179991958	179991959	+	Frame_Shift_Ins	INS	-	-	A													agggactgggacttcgacagINSaaaaaaaatcaactcttgaa							TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:179991958_179991959insA	ENST00000367607.3	+	13	3779_3780	c.3361_3362insA	c.(3361-3363)gaafs	p.E1121fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1121	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTTCGACAGAAAAAAAATCA	0.391																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(3361-3363)aaafs		centrosomal protein 350kDa																																				SO:0001589	frameshift_variant	9857					centrosome|nucleus|spindle		g.chr1:179991958_179991959insA	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3369dupA	1.37:g.179991966_179991966dupA	ENSP00000356579:p.Glu1121fs						p.K1121fs	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			13	3779_3780	+			1121			Ser-rich.		O75068|Q8TDK3|Q8WY20	Frame_Shift_Ins	INS	ENST00000367607.3	37	c.3361_3362insA	CCDS1336.1																																																																																				0.391	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	5						3	5	---	---	---	---	A	179991959	-	A	179991958	7	5	249	1	0	1	1	0	0	0	0	0	3254	943	33	0	3407	0	CEP350	1	179991958	Frame_Shift_Ins	INS	-	TCGA-HT-7602-01A-21D-2086-08	25003205	179991958	69258663	4	28636											
FAM179A	165186	broad.mit.edu	37	chr2	29240088	29240088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaaggagatggagctGcttcggaggctggaggagcc	18	7	0	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr2:29240088G>A	ENST00000379558.4	+	9	1464	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	FAM179A_ENST00000403861.2_Silent_p.L371L|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	371										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						AGATGGAGCTGCTTCGGAGGC	0.572																																						ENST00000379558.4																			0				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						c.(1111-1113)ctG>ctA		family with sequence similarity 179, member A							84	90	88					2																	29240088		2013	4189	6202	SO:0001819	synonymous_variant	165186						binding	g.chr2:29240088G>A	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.1113G>A	2.37:g.29240088G>A						FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.L371L	p.L371L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			9	1464	+			371					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.1113G>A	CCDS1769.2																																																																																				0.572	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	97	0	0	0	1	0	4	97					A	29240088	G	A	29240088	2	1	249	1	0	0	0	0	0	0	0	1	5505	1306	46	2		2	FAM179A	2	29240088	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		29240088	213959285	5	28637											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	84	0	0	0	1	0	23	84					T	209113112	C	T	209113112	3	4	249	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	179873024	209113112	34086261	6	28638											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925263	195925263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggagggtgcagattcGgcatggatgtccagtcaggc	15	8	1	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr3:195925263G>A	ENST00000296326.3	-	7	912	c.833C>T	c.(832-834)cCg>cTg	p.P278L		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	278						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GTGCAGATTCGGCATGGATGT	0.657																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(832-834)cCg>cTg		zinc finger, DHHC-type containing 19							41	46	45					3																	195925263		2093	4221	6314	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195925263G>A	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.833C>T	3.37:g.195925263G>A	ENSP00000296326:p.Pro278Leu						p.P278L	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	7	912	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		278					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.833C>T	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258791	0.23051	.	.	ENSG00000163958	ENST00000296326	T	0.29397	1.57	4.19	0.338	0.15974	.	7745.180000	0.00481	N	0.000130	T	0.19485	0.0468	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.56958	D	0.05	1.2317	3.9994	0.09572	0.3328:0.0:0.2209:0.4464	.	278	Q8WVZ1	ZDH19_HUMAN	L	278	ENSP00000296326:P278L	ENSP00000296326:P278L	P	-	2	0	ZDHHC19	197409660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.042000	0.12063	-0.093000	0.12396	-0.251000	0.11542	CCG		0.657	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		7	82	0	0	0	1	0	7	82					A	195925263	G	A	195925263	3	1	249	1	0	0	0	0	1	0	0	0	17606	1116	39	1	100	1	ZDHHC19	3	195925263	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		195925263	2097167	7	28639											
SH3RF1	57630	broad.mit.edu	37	chr4	170042112	170042112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctagttcatcctctttccGaggagtgtatggatatatag	9	8	3	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr4:170042112G>A	ENST00000284637.9	-	8	1716	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	459	Interaction with AKT2. {ECO:0000250}.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		TCCTCTTTCCGAGGAGTGTAT	0.403																																						ENST00000284637.9																			0				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						c.(1375-1377)Cgg>Tgg		SH3 domain containing ring finger 1							110	95	100					4																	170042112		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170042112G>A	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.1375C>T	4.37:g.170042112G>A	ENSP00000284637:p.Arg459Trp					SH3RF1_ENST00000508685.1_5'UTR	p.R459W	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	8	1716	-		Prostate(90;0.00267)|Renal(120;0.0183)	459			Interaction with AKT2 (By similarity).|SH3 3.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1375C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119813	0.56613	.	.	ENSG00000154447	ENST00000284637	T	0.53640	0.61	5.92	5.03	0.67393	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.69800	-0.5047	10	0.87932	D	0	-25.6438	14.5513	0.68068	0.0:0.0:0.7518:0.2482	.	459	Q7Z6J0	SH3R1_HUMAN	W	459	ENSP00000284637:R459W	ENSP00000284637:R459W	R	-	1	2	SH3RF1	170278687	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	5.386000	0.66238	2.811000	0.96726	0.555000	0.69702	CGG		0.403	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		4	76	0	0	0	1	0	4	76					A	170042112	G	A	170042112	3	1	249	1	0	0	0	0	1	0	0	0	14258	1057	37	1	1311	1	SH3RF1	4	170042112	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		170042112	21112164	8	28640											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576465	33576465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtagtgggcctttggctGgggagcagtccttccattac	14	9	0	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr5:33576465G>A	ENST00000504830.1	-	19	4001	c.3666C>T	c.(3664-3666)ccC>ccT	p.P1222P	ADAMTS12_ENST00000352040.3_Silent_p.P1137P|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	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						GCCTTTGGCTGGGGAGCAGTC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(3664-3666)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							135	130	132					5																	33576465		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576465G>A	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.3666C>T	5.37:g.33576465G>A		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.P1137P	p.P1222P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4001	-			1222			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3666C>T	CCDS34140.1																																																																																				0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	112	0	0	0	1	0	6	112					A	33576465	G	A	33576465	2	1	249	1	0	0	0	0	0	0	0	1	257	1335	47	2		2	ADAMTS12	5	33576465	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		33576465	147338795	9	28641											
NAT2	10	broad.mit.edu	37	chr8	18257912	18257912	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctcctcccagatgtggcaGcctctagaattaatttctgg	9	11	2	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr8:18257912G>C	ENST00000286479.3	+	2	506	c.399G>C	c.(397-399)caG>caC	p.Q133H	NAT2_ENST00000520116.1_Missense_Mutation_p.Q3H	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	133					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AGATGTGGCAGCCTCTAGAAT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(397-399)caG>caC		N-acetyltransferase 2 (arylamine N-acetyltransferase)							67	70	69					8																	18257912		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257912G>C	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.399G>C	8.37:g.18257912G>C	ENSP00000286479:p.Gln133His					NAT2_ENST00000520116.1_Missense_Mutation_p.Q3H	p.Q133H	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	506	+			133					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.399G>C	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	G	6.152	0.396193	0.11638	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.02032	4.49;4.49	2.95	2.95	0.34219	.	0.462374	0.23222	N	0.050557	T	0.03178	0.0093	L	0.58510	1.815	0.34615	D	0.717981	B	0.28783	0.222	B	0.27262	0.078	T	0.17837	-1.0356	10	0.48119	T	0.1	.	9.6078	0.39643	0.0:0.0:1.0:0.0	.	133	A4Z6T7	.	H	133;3	ENSP00000286479:Q133H;ENSP00000428416:Q3H	ENSP00000286479:Q133H	Q	+	3	2	NAT2	18302192	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	1.662000	0.37418	1.947000	0.56498	0.436000	0.28706	CAG		0.502	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		16	64	0	0	0	1	0	16	64					C	18257912	G	C	18257912	3	2	249	1	0	0	0	0	1	0	0	0	10177	962	34	4	401	4	NAT2	8	18257912	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		18257912	128106110	10	28642											
TSPAN14	81619	broad.mit.edu	37	chr10	82264513	82264513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcttccttggagtcggGctgtgggcatggagcgaaaa	16	7	1	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr10:82264513G>A	ENST00000429989.3	+	3	334	c.111G>A	c.(109-111)ggG>ggA	p.G37G	TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372156.1_Silent_p.G37G|TSPAN14_ENST00000341863.6_Silent_p.G37G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Silent_p.G37G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	37					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TTGGAGTCGGGCTGTGGGCAT	0.517																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(109-111)ggG>ggA		tetraspanin 14							210	178	189					10																	82264513		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82264513G>A	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"Tetraspanins"	23303	protein-coding gene	gene with protein product			"transmembrane 4 superfamily member 14"	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.111G>A	10.37:g.82264513G>A						TSPAN14_ENST00000372158.1_Silent_p.G37G|TSPAN14_ENST00000341863.6_Silent_p.G37G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372156.1_Silent_p.G37G	p.G37G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	334	+			37					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.111G>A	CCDS7369.1																																																																																				0.517	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		4	111	0	0	0	1	0	4	111					A	82264513	G	A	82264513	2	1	249	1	0	0	0	0	0	0	0	1	16635	1190	42	2		2	TSPAN14	10	82264513	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		82264513	53270234	11	28643											
MPEG1	219972	broad.mit.edu	37	chr11	58978417	58978417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatggatgacattcatgGccctccgcagctctatcggt	9	15	2	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr11:58978417G>A	ENST00000361050.3	-	1	2007	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	641						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GACATTCATGGCCCTCCGCAG	0.547																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1921-1923)gCc>gTc		macrophage expressed 1							97	105	103					11																	58978417		1991	4150	6141	SO:0001583	missense	219972					integral to membrane		g.chr11:58978417G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1922C>T	11.37:g.58978417G>A	ENSP00000354335:p.Ala641Val						p.A641V	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2007	-		all_epithelial(135;0.125)	641					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1922C>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	1.073	-0.669350	0.03403	.	.	ENSG00000197629	ENST00000361050	T	0.22134	1.97	5.69	3.83	0.44106	.	0.647799	0.15347	N	0.267142	T	0.19927	0.0479	L	0.57536	1.79	0.27652	N	0.947354	B	0.13145	0.007	B	0.12156	0.007	T	0.17077	-1.0381	10	0.39692	T	0.17	-10.8343	6.2564	0.20876	0.1636:0.1519:0.6846:0.0	.	641	Q2M385	MPEG1_HUMAN	V	641	ENSP00000354335:A641V	ENSP00000354335:A641V	A	-	2	0	MPEG1	58734993	0.000000	0.05858	0.940000	0.37924	0.010000	0.07245	0.561000	0.23515	0.771000	0.33359	-0.140000	0.14226	GCC		0.547	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		12	152	0	0	0	1	0	12	152					A	58978417	G	A	58978417	3	1	249	1	0	0	0	0	1	0	0	0	9723	1203	42	2	232	2	MPEG1	11	58978417	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		58978417	76028099	12	28644											
NCKAP1L	3071	broad.mit.edu	37	chr12	54911640	54911640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggattaggtctctggtccGaagacacatcaaagtgatac	12	8	2	2	rs375305246		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:54911640G>A	ENST00000293373.6	+	13	1335	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R369Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	419					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTCTGGTCCGAAGACACATC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		21477	0.0		0.0	False		,,,				2504	0.001					ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1255-1257)cGa>cAa		NCK-associated protein 1-like		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	180	160	167		1106,1256	3.9	1	12		167	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NCKAP1L	NM_001184976.1,NM_005337.4	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	369/1078,419/1128	54911640	2,13004	2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54911640G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1256G>A	12.37:g.54911640G>A	ENSP00000293373:p.Arg419Gln					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R369Q	p.R419Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			13	1335	+			419					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1256G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536879	0.45176	2.27E-4	1.16E-4	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.36157	1.27;1.27	6.04	3.91	0.45181	.	0.363442	0.28203	N	0.016207	T	0.24547	0.0595	L	0.31476	0.935	0.31005	N	0.71986	B	0.18461	0.028	B	0.13407	0.009	T	0.14062	-1.0486	10	0.41790	T	0.15	-4.6515	8.3311	0.32187	0.2541:0.0:0.7459:0.0	.	419	P55160	NCKPL_HUMAN	Q	419;369	ENSP00000293373:R419Q;ENSP00000445596:R369Q	ENSP00000293373:R419Q	R	+	2	0	NCKAP1L	53197907	0.615000	0.27026	1.000000	0.80357	0.995000	0.86356	0.903000	0.28475	1.568000	0.49683	0.561000	0.74099	CGA		0.388	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		27	77	0	0	0	1	0	27	77					A	54911640	G	A	54911640	3	1	249	1	0	0	0	0	1	0	0	0	10222	1058	37	1	1306	1	NCKAP1L	12	54911640	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		54911640	78940255	13	28645											
ACACB	32	broad.mit.edu	37	chr12	109654442	109654442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataccgcagcgggatccgcGgctatatgaaaacagtggtg	14	9	0	1	rs567554237		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:109654442G>A	ENST00000338432.7	+	23	3489	c.3370G>A	c.(3370-3372)Ggc>Agc	p.G1124S	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.G1124S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1124					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)	p.G1124S(1)		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)	CGGGATCCGCGGCTATATGAA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18919	0.001		0.0	False		,,,				2504	0.0					ENST00000338432.7																			1	Substitution - Missense(1)	p.G1124S(1)	large_intestine(1)	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						c.(3370-3372)Ggc>Agc		acetyl-CoA carboxylase beta	Biotin(DB00121)						89	88	88					12																	109654442		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109654442G>A	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.3370G>A	12.37:g.109654442G>A	ENSP00000341044:p.Gly1124Ser					ACACB_ENST00000377848.3_Missense_Mutation_p.G1124S|ACACB_ENST00000377854.5_Intron	p.G1124S			O00763	ACACB_HUMAN			23	3489	+			1124					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3370G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939658	0.92526	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.39056	1.1;1.1	5.33	5.33	0.75918	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61860	-0.6976	10	0.36615	T	0.2	.	19.4891	0.95042	0.0:0.0:1.0:0.0	.	1124	O00763	ACACB_HUMAN	S	1124;1124;355	ENSP00000341044:G1124S;ENSP00000367079:G1124S	ENSP00000341044:G1124S	G	+	1	0	ACACB	108138825	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	9.246000	0.95438	2.679000	0.91253	0.650000	0.86243	GGC		0.458	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	119	0	0	0	1	0	10	119					A	109654442	G	A	109654442	3	1	249	1	0	0	0	0	1	0	0	0	107	1116	39	1	3456	1	ACACB	12	109654442	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	54742802	109654442	24197453	14	28646											
ZIC2	7546	broad.mit.edu	37	chr13	100637726	100637726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcagcggcggcggcGgctgcggcggcggcggccgc	24	15	0	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1387-1389)gcG>gcT		Zic family member 2							2	3	3					13																	100637726		765	1850	2615	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637726G>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1389G>T	13.37:g.100637726G>T						ZIC2_ENST00000477213.1_3'UTR	p.A463A	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			3	1682	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		463			Poly-Ala.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1389G>T	CCDS9495.1																																																																																				0.816	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		3	16	1	0	0.115264	1	0.115264	3	16					T	100637726	G	T	100637726	2	4	249	1	0	0	0	0	0	0	0	1	17676	1103	39	4		4	ZIC2	13	100637726	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		100637726	14532152	15	28647											
MNT	4335	broad.mit.edu	37	chr17	2298167	2298168	+	Splice_Site	INS	-	-	C													accccgccacaccccactcaINSccccccgggcctcttcttct							TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:2298167_2298168insC	ENST00000174618.4	-	2	1059		c.e2+1		MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor						cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CACCCCACTCACCCCCCGGGCC	0.663																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.e2+1		MAX network transcriptional repressor																																				SO:0001630	splice_region_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2298167_2298168insC	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7188	protein-coding gene	gene with protein product	"myc antagonist", "Max-interacting protein"	603039	"MAX binding protein", "MNT, MAX dimerization protein"			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.653+1->G	17.37:g.2298173_2298173dupC								NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	2	1059	-								A8K6D1|D3DTI7|Q1ED38	Splice_Site	INS	ENST00000174618.4	37		CCDS11018.1																																																																																				0.663	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310	Intron	2	4						2	4	---	---	---	---	C	2298168	-	C	2298167	8	5	249	1	0	1	1	0	0	0	1	0	9678	173	6	0	1113	0	MNT	17	2298167	Splice_Site	INS	-	TCGA-HT-7602-01A-21D-2086-08		2298167	78897043	16	28648											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	39	0	0	0	1	0	7	39					A	7577094	G	A	7577094	3	1	249	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	5278927	7577094	73618116	17	28649			1	25		3	3	1399	N	G_C	4.49083e-07
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	64	0	0	0	1	0	5	64					A	7578212	G	A	7578212	4	1	249	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	1118	7578212	73616998	18	28650			1	25		3	3	1399	N	G_C	4.49083e-07
TP53	7157	broad.mit.edu	37	chr17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggggtgtggaatcaacCcacagctgcacagggcaggt	17	10	1	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578492C>T	ENST00000269305.4	-	5	627	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*	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	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)	TGGAATCAACCCACAGCTGCA	0.602		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		65	Substitution - Nonsense(45)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(2)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(1)	lung(9)|liver(8)|breast(7)|large_intestine(6)|upper_aerodigestive_tract(5)|endometrium(5)|central_nervous_system(4)|oesophagus(4)|ovary(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|pancreas(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						c.(436-438)tgG>tgA	Other conserved DNA damage response genes	tumor protein p53							58	57	57					17																	7578492		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578492C>T	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.438G>A	17.37:g.7578492C>T	ENSP00000269305:p.Trp146*	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)				TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*	p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	146		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.438G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653238	0.47362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	4.52	0.55395	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	7.2875	0.26348	0.1676:0.7467:0.0:0.0857	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	3	0	TP53	7519217	0.545000	0.26449	0.478000	0.27316	0.067000	0.16453	1.174000	0.31932	1.452000	0.47756	0.655000	0.94253	TGG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	95	0	0	0	1	0	5	95					T	7578492	C	T	7578492	4	4	249	1	0	0	0	0	0	1	0	0	16378	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	280	7578492	73616718	19	28651			1	25		3	3	1399	N	G_C	4.49083e-07
CIC	23152	broad.mit.edu	37	chr19	42793100	42793100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcagacaccaaggctcCggggagcagctcctgtgggg	16	12	1	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr19:42793100C>T	ENST00000575354.2	+	7	1032	c.992C>T	c.(991-993)cCg>cTg	p.P331L	CIC_ENST00000160740.3_Missense_Mutation_p.P331L|CIC_ENST00000572681.2_Missense_Mutation_p.P1240L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	331					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)				ACCAAGGCTCCGGGGAGCAGC	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3718-3720)cCg>cTg		capicua transcriptional repressor							51	53	52					19																	42793100		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793100C>T	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.992C>T	19.37:g.42793100C>T	ENSP00000458663:p.Pro331Leu					CIC_ENST00000160740.3_Missense_Mutation_p.P331L|CIC_ENST00000575354.2_Missense_Mutation_p.P331L	p.P1240L			Q96RK0	CIC_HUMAN			8	3787	+		Prostate(69;0.00682)	331			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3719C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756232	0.15846	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.26955	0.0660	N	0.08118	0	0.23361	N	0.997835	B	0.15141	0.012	B	0.10450	0.005	T	0.19712	-1.0297	8	0.87932	D	0	-0.9906	13.3946	0.60843	0.0:1.0:0.0:0.0	.	331	Q96RK0	CIC_HUMAN	L	331	.	ENSP00000160740:P331L	P	+	2	0	CIC	47484940	0.005000	0.15991	0.975000	0.42487	0.630000	0.37929	1.792000	0.38754	2.546000	0.85860	0.555000	0.69702	CCG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	112	0	0	0	1	0	4	112					T	42793100	C	T	42793100	3	4	249	1	0	0	0	0	1	0	0	0	3424	652	23	1	1018	1	CIC	19	42793100	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		42793100	16335883	20	28652											
PLA2G3	50487	broad.mit.edu	37	chr22	31533838	31533838	+	Frame_Shift_Del	DEL	A	A	-													tgatgtggtggccccttccgAaggtgctgcttctgtcgagg							TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr22:31533838delA	ENST00000215885.3	-	4	1176	c.924delT	c.(922-924)cttfs	p.L308fs		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	308					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCCCTTCCGAAGGTGCTGCT	0.647																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(922-924)ctfs		phospholipase A2, group III							90	102	98					22																	31533838		2203	4300	6503	SO:0001589	frameshift_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31533838delA	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.924delT	22.37:g.31533838delA	ENSP00000215885:p.Leu308fs						p.L308fs	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			4	1176	-			308					O95768	Frame_Shift_Del	DEL	ENST00000215885.3	37	c.924delT	CCDS13889.1																																																																																				0.647	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		8	244						8	244	---	---	---	---	-	31533838	A	-	31533838	7	5	249	1	0	1	0	1	0	0	0	0	12000	233	9	0	621	0	PLA2G3	22	31533838	Frame_Shift_Del	DEL	A	TCGA-HT-7602-01A-21D-2086-08		31533838	19770728	21	28653											
ESPN	83715	broad.mit.edu	37	chr1	6488429	6488429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctatccactacgctgcCgccaaaggagacttcccctc	7	18	0	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:6488429C>T	ENST00000377828.1	+	2	606	c.438C>T	c.(436-438)gcC>gcT	p.A146A	MIR4252_ENST00000585139.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	146					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACTACGCTGCCGCCAAAGGAG	0.647																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(436-438)gcC>gcT		espin							49	53	52					1																	6488429		2202	4300	6502	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6488429C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.438C>T	1.37:g.6488429C>T							p.A146A	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	2	606	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	146					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.438C>T	CCDS70.1																																																																																				0.647	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		3	36	0	0	0	1	0	3	36					T	6488429	C	T	6488429	2	4	250	1	0	0	0	0	0	0	0	1	5254	639	23	1		1	ESPN	1	6488429	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08		6488429	242762192	1	28654											
TMEM79	84283	broad.mit.edu	37	chr1	156255699	156255699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccgtttgatgtcccaCggctgcccaccatgagttcc	9	16	0	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:156255699C>T	ENST00000405535.2	+	2	853	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	228					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGATGTCCCACGGCTGCCCAC	0.607																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(682-684)Cgg>Tgg		transmembrane protein 79							109	112	111					1																	156255699		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255699C>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.682C>T	1.37:g.156255699C>T	ENSP00000384748:p.Arg228Trp					TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	p.R228W	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			2	853	+	Hepatocellular(266;0.158)		228					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.682C>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795652	0.70452	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.52983	0.64;0.64	5.29	3.37	0.38596	.	0.404728	0.25666	N	0.029119	T	0.27524	0.0676	N	0.14661	0.345	0.38224	D	0.940837	D	0.76494	0.999	P	0.56700	0.804	T	0.14476	-1.0471	10	0.49607	T	0.09	-5.1614	8.6431	0.33989	0.157:0.7628:0.0:0.0802	.	228	Q9BSE2	TMM79_HUMAN	W	228	ENSP00000295694:R228W;ENSP00000384748:R228W	ENSP00000295694:R228W	R	+	1	2	TMEM79	154522323	0.946000	0.32159	0.738000	0.30950	0.987000	0.75469	2.080000	0.41586	0.746000	0.32786	0.561000	0.74099	CGG		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		45	112	0	0	0	1	0	45	112					T	156255699	C	T	156255699	3	4	250	1	0	0	0	0	1	0	0	0	16200	527	19	1	684	1	TMEM79	1	156255699	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	149767270	156255699	92994922	2	28655											
MOSC2	54996	broad.mit.edu	37	chr1	220936309	220936309	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcctccctggtagatTtgaataccaggatggagaag	12	8	0	4			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:220936309T>C	ENST00000366913.3	+	4	865	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	MARC2_ENST00000359316.2_Silent_p.L223L	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	223	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCTGGTAGATTTGAATACCAG	0.502																																						ENST00000366913.3																			0											c.(667-669)Ttg>Ctg		mitochondrial amidoxime reducing component 2							111	111	111					1																	220936309		2203	4300	6503	SO:0001819	synonymous_variant	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220936309T>C		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"MOCO sulphurase C-terminal domain containing 2"	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.667T>C	1.37:g.220936309T>C						MARC2_ENST00000359316.2_Silent_p.L223L	p.L223L	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN			4	865	+			223			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Silent	SNP	ENST00000366913.3	37	c.667T>C	CCDS1525.1																																																																																				0.502	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		8	38	0	0	0	1	0	8	38					C	220936309	T	C	220936309	2	2	250	1	0	0	0	0	0	0	0	1	9714	1838	64	3		3	MOSC2	1	220936309	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08	64680610	220936309	28314312	3	28656											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	31	0	0	0	1	0	10	31					T	209113112	C	T	209113112	3	4	250	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		209113112	34086261	4	28657											
ZNF860	344787	broad.mit.edu	37	chr3	32031226	32031226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccattcatcattactcacaCtaaaacaggaagtacacata	3	11	3	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:32031226C>G	ENST00000360311.4	+	2	1204	c.655C>G	c.(655-657)Cta>Gta	p.L219V		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	219					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)|lung(4)|ovary(1)	8						ATTACTCACACTAAAACAGGA	0.333																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(655-657)Cta>Gta		zinc finger protein 860							50	37	41					3																	32031226		692	1590	2282	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031226C>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.655C>G	3.37:g.32031226C>G	ENSP00000373274:p.Leu219Val						p.L219V	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1204	+			219					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.655C>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560376	0.03939	.	.	ENSG00000197385	ENST00000360311	T	0.28069	1.63	0.345	0.345	0.16011	.	.	.	.	.	T	0.11965	0.0291	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	219	A6NHJ4	ZN860_HUMAN	V	219	ENSP00000373274:L219V	.	L	+	1	2	ZNF860	32006230	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-0.997000	0.03705	0.392000	0.25172	0.393000	0.25936	CTA		0.333	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			7	34	0	0	0	1	0	7	34					G	32031226	C	G	32031226	3	3	250	1	0	0	0	0	1	0	0	0	18191	564	20	4	657	4	ZNF860	3	32031226	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		32031226	165991204	5	28658											
CDV3	55573	broad.mit.edu	37	chr3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-													acttctttgccaagagggacAagaagaagaagaaggagcgg							TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:133292940_133292942delAAG	ENST00000264993.3	+	1	367_369	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_ENST00000515421.1_5'Flank|CDV3_ENST00000511392.1_5'Flank|CDV3_ENST00000508481.1_5'Flank|CDV3_ENST00000431519.2_In_Frame_Del_p.K22del|CDV3_ENST00000420115.2_5'Flank	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	22	Poly-Lys.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744																																						ENST00000264993.3																			0				kidney(3)|lung(1)|prostate(1)	5						c.(52-54)del		CDV3 homolog (mouse)			,	27,3461		1,25,1718					,	1.8	1			4	68,7044		3,62,3491	no	coding,coding	CDV3	NM_017548.4,NM_001134422.1	,	4,87,5209	A1A1,A1R,RR		0.9561,0.7741,0.8962	,	,		95,10505				SO:0001651	inframe_deletion	55573				cell proliferation	cytoplasm		g.chr3:133292940_133292942delAAG	AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.52_54delAAG	3.37:g.133292949_133292951delAAG	ENSP00000264993:p.Lys22del					CDV3_ENST00000431519.2_In_Frame_Del_p.K22del	p.K22del	NM_001134422.1|NM_017548.4	NP_001127894.1|NP_060018.1	Q9UKY7	CDV3_HUMAN			1	367_369	+			22			Poly-Lys.		B3KUC2|Q96IP9	In_Frame_Del	DEL	ENST00000264993.3	37	c.52_54delAAG	CCDS3079.1																																																																																				0.744	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1	NM_017548		2	4						2	4	---	---	---	---	-	133292942	AAG	-	133292940	7	5	250	1	0	1	0	1	0	0	0	0	3181	131	5	0	54	0	CDV3	3	133292940	In_Frame_Del	DEL	AAG	TCGA-HT-7603-01A-21D-2086-08	101261714	133292940	64729490	6	28659											
CHRNA6	8973	broad.mit.edu	37	chr8	42620342	42620342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcagttgcacagcccaCacagcctgtgaggccaaaca	8	16	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:42620342C>T	ENST00000276410.2	-	2	440	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	29					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)	GCACAGCCCACACAGCCTGTG	0.562																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(85-87)Gtg>Atg		cholinergic receptor, nicotinic, alpha 6 (neuronal)							118	110	113					8																	42620342		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42620342C>T	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.85G>A	8.37:g.42620342C>T	ENSP00000276410:p.Val29Met					CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M	p.V29M	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	440	-	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)	29					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.85G>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	C	8.719	0.914001	0.17907	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.79352	-1.26;-1.26	5.09	3.27	0.37495	.	0.791479	0.12296	N	0.481606	T	0.59183	0.2175	N	0.08118	0	0.09310	N	1	B;B	0.25667	0.131;0.04	B;B	0.28638	0.092;0.03	T	0.49735	-0.8908	10	0.34782	T	0.22	.	9.0653	0.36460	0.0:0.8154:0.0:0.1846	.	29;29	B4DQH1;Q15825	.;ACHA6_HUMAN	M	29	ENSP00000276410:V29M;ENSP00000433871:V29M	ENSP00000276410:V29M	V	-	1	0	CHRNA6	42739499	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.404000	0.07205	0.631000	0.30412	-0.140000	0.14226	GTG		0.562	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			25	66	0	0	0	1	0	25	66					T	42620342	C	T	42620342	3	4	250	1	0	0	0	0	1	0	0	0	3387	478	17	2	1419	2	CHRNA6	8	42620342	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		42620342	103743680	7	28660											
EEF1D	1936	broad.mit.edu	37	chr8	144668979	144668979	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatatttgaacttgtcgaAccagatcttctcatgtgcta	7	9	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:144668979A>C	ENST00000529272.1	-	2	437	c.37T>G	c.(37-39)Ttc>Gtc	p.F13V	EEF1D_ENST00000532741.1_Missense_Mutation_p.F429V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|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)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AACTTGTCGAACCAGATCTTC	0.552																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1285-1287)Ttc>Gtc		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							129	128	128					8																	144668979		2203	4300	6503	SO:0001583	missense	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144668979A>C	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.37T>G	8.37:g.144668979A>C	ENSP00000434872:p.Phe13Val					EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000529272.1_Missense_Mutation_p.F13V|EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V	p.F429V			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		2	1513	-	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)		13					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1285T>G	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978753	0.74360	.	.	ENSG00000104529	ENST00000419152;ENST00000532400;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749;ENST00000526340;ENST00000525223;ENST00000532543;ENST00000531931	.	.	.	4.81	3.66	0.41972	.	0.051711	0.85682	D	0.000000	T	0.76104	0.3941	M	0.84082	2.675	0.51482	D	0.999924	P;P;D;P;D;P	0.76494	0.599;0.944;0.999;0.594;0.998;0.955	B;P;D;B;D;P	0.73380	0.284;0.649;0.976;0.164;0.98;0.809	T	0.74743	-0.3562	9	0.48119	T	0.1	.	7.2517	0.26152	0.8256:0.0:0.1744:0.0	.	13;379;331;13;429;379	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	V	13;13;429;13;379;13;13;13;379;331;13;379;13;13;13;13;13;13;13;13;13;13;29;13;13;13;13	.	ENSP00000317399:F13V	F	-	1	0	EEF1D	144740122	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	6.708000	0.74660	0.801000	0.34066	0.459000	0.35465	TTC		0.552	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		4	94	0	0	0	1	0	4	94					C	144668979	A	C	144668979	3	2	250	1	0	0	0	0	1	0	0	0	4926	43	2	5	836	5	EEF1D	8	144668979	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08	102048637	144668979	1695043	8	28661											
FNBP1	23048	broad.mit.edu	37	chr9	132757223	132757223	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgtgtttttctaaGttgtcaaactgatcctgttg	9	7	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr9:132757223G>C	ENST00000446176.2	-	2	225	c.39C>G	c.(37-39)aaC>aaG	p.N13K	FNBP1_ENST00000420781.1_Missense_Mutation_p.N13K|FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	13	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTTTTTCTAAGTTGTCAAACT	0.333			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(37-39)aaC>aaG		formin binding protein 1							170	166	167					9																	132757223		1822	4081	5903	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132757223G>C	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.39C>G	9.37:g.132757223G>C	ENSP00000413625:p.Asn13Lys					FNBP1_ENST00000446176.2_Missense_Mutation_p.N13K|FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K	p.N13K			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	2	257	-		Ovarian(14;0.000536)	13			FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.39C>G	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571834	0.45798	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.15952	2.38;2.38;2.38	5.55	3.7	0.42460	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.64170	1.965	0.80722	D	1	B;P;B;B;P	0.41643	0.388;0.758;0.383;0.096;0.758	B;P;B;B;P	0.54544	0.268;0.755;0.248;0.16;0.755	T	0.01848	-1.1261	10	0.41790	T	0.15	-30.8745	10.2676	0.43464	0.2166:0.0:0.7834:0.0	.	13;13;13;13;13	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.;.;.;.;FNBP1_HUMAN	K	13	ENSP00000413625:N13K;ENSP00000407548:N13K;ENSP00000347907:N13K	ENSP00000347907:N13K	N	-	3	2	FNBP1	131797044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.836000	0.62789	1.332000	0.45431	0.563000	0.77884	AAC		0.333	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			23	82	0	0	0	1	0	23	82					C	132757223	G	C	132757223	3	2	250	1	0	0	0	0	1	0	0	0	5965	1020	36	4	1878	4	FNBP1	9	132757223	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		132757223	8456208	9	28662											
RBP3	5949	broad.mit.edu	37	chr10	48390723	48390723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgatggcctgctggAtggcttcctgcatgcccagc	13	13	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:48390723A>G	ENST00000224600.4	-	1	268	c.155T>C	c.(154-156)aTc>aCc	p.I52T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	52	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCTGCTGGATGGCTTCCTG	0.597																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(154-156)aTc>aCc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						65	57	60					10																	48390723		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390723A>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.155T>C	10.37:g.48390723A>G	ENSP00000224600:p.Ile52Thr						p.I52T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	268	-			52			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.155T>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485866	0.84854	.	.	ENSG00000107618	ENST00000224600	T	0.63913	-0.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.83078	-0.0139	10	0.87932	D	0	-30.7367	15.1691	0.72854	1.0:0.0:0.0:0.0	.	52	P10745	RET3_HUMAN	T	52	ENSP00000224600:I52T	ENSP00000224600:I52T	I	-	2	0	RBP3	48010729	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.063000	0.76714	2.188000	0.69820	0.533000	0.62120	ATC		0.597	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		9	37	0	0	0	1	0	9	37					G	48390723	A	G	48390723	3	3	250	1	0	0	0	0	1	0	0	0	13157	333	12	3	3604	3	RBP3	10	48390723	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		48390723	87144024	10	28663											
SLC29A3	55315	broad.mit.edu	37	chr10	73122070	73122070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagggcccaatagcaaggCgctcccagggttcgtgctcc	13	15	0	0	rs564770014		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:73122070C>T	ENST00000373189.5	+	6	1185	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	378					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						AATAGCAAGGCGCTCCCAGGG	0.602																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1132-1134)gCg>gTg		solute carrier family 29 (equilibrative nucleoside transporter), member 3							132	127	129					10																	73122070		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73122070C>T	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.1133C>T	10.37:g.73122070C>T	ENSP00000362285:p.Ala378Val					SLC29A3_ENST00000469204.1_3'UTR	p.A378V	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			6	1185	+			378					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.1133C>T	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519313	0.27211	.	.	ENSG00000198246	ENST00000373189	T	0.62364	0.03	5.8	1.98	0.26296	.	0.939427	0.09006	N	0.862263	T	0.29028	0.0721	N	0.00841	-1.15	0.22479	N	0.999068	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	9	0.16896	T	0.51	-4.5948	8.9442	0.35749	0.0:0.2255:0.0:0.7745	.	378	Q9BZD2	S29A3_HUMAN	V	378	ENSP00000362285:A378V	ENSP00000362285:A378V	A	+	2	0	SLC29A3	72792076	1.000000	0.71417	0.636000	0.29352	0.339000	0.28857	2.870000	0.48451	0.121000	0.18284	-0.290000	0.09829	GCG		0.602	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		30	52	0	0	0	1	0	30	52					T	73122070	C	T	73122070	3	4	250	1	0	0	0	0	1	0	0	0	14536	768	27	1	1159	1	SLC29A3	10	73122070	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24731347	73122070	62412677	11	28664											
SFTPD	6441	broad.mit.edu	37	chr10	81706233	81706233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgggtcccccttctcGccccgagggccctctctccc	8	22	2	0	rs148973610		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:81706233G>A	ENST00000372292.3	-	2	223	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	61	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCCCTTCTCGCCCCGAGGGC	0.602																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(181-183)ggC>ggT		surfactant protein D		G		0,4406		0,0,2203	46	44	45		183	-5.7	0.9	10	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SFTPD	NM_003019.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		61/376	81706233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81706233G>A	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.183C>T	10.37:g.81706233G>A							p.G61G	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		2	223	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		61			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	c.183C>T	CCDS7362.1																																																																																				0.602	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			3	43	0	0	0	1	0	3	43					A	81706233	G	A	81706233	2	1	250	1	0	0	0	0	0	0	0	1	14193	1074	38	1		1	SFTPD	10	81706233	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	8584163	81706233	53828514	12	28665											
OR5P3	120066	broad.mit.edu	37	chr11	7847281	7847281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaagctcatgagcatgAcaggtgtgactgatgaggag	15	5	1	5	rs531151076	byFrequency	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847281A>G	ENST00000328375.1	-	1	238	c.239T>C	c.(238-240)gTc>gCc	p.V80A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	80						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)		CATGAGCATGACAGGTGTGAC	0.478																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(238-240)gTc>gCc		olfactory receptor, family 5, subfamily P, member 3							126	123	124					11																	7847281		2188	4296	6484	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847281A>G	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.239T>C	11.37:g.7847281A>G	ENSP00000332068:p.Val80Ala					RP11-35J10.5_ENST00000527565.1_lincRNA	p.V80A	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	238	-			80					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.239T>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539500	0.27563	.	.	ENSG00000182334	ENST00000328375	T	0.01323	5.01	5.28	-3.8	0.04307	GPCR, rhodopsin-like superfamily (1);	0.569035	0.14402	U	0.321831	T	0.01061	0.0035	N	0.12569	0.235	0.09310	N	1	B	0.34264	0.446	B	0.29524	0.103	T	0.38329	-0.9666	10	0.87932	D	0	-15.9267	16.1303	0.81428	0.163:0.0:0.0:0.837	.	80	Q8WZ94	OR5P3_HUMAN	A	80	ENSP00000332068:V80A	ENSP00000332068:V80A	V	-	2	0	OR5P3	7803857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.471000	0.06631	-0.893000	0.03930	-1.474000	0.01003	GTC		0.478	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		10	33	0	0	0	1	0	10	33					G	7847281	A	G	7847281	3	3	250	1	0	0	0	0	1	0	0	0	11179	275	10	3	699	3	OR5P3	11	7847281	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7847281	127159235	13	28666			1	26		2	2	25	N	C_A	2.868477e-05
OR5P3	120066	broad.mit.edu	37	chr11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgactgatgaggagtacCcaatgtctacaaaggccaaa	11	8	1	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72						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)		TGAGGAGTACCCAATGTCTAC	0.438																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(214-216)gGg>gCg		olfactory receptor, family 5, subfamily P, member 3							116	113	114					11																	7847305		2188	4296	6484	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847305C>G	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.215G>C	11.37:g.7847305C>G	ENSP00000332068:p.Gly72Ala					RP11-35J10.5_ENST00000527565.1_lincRNA	p.G72A	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	214	-			72					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.215G>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	C	1.507	-0.550463	0.03996	.	.	ENSG00000182334	ENST00000328375	T	0.01313	5.02	5.18	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000291	T	0.01454	0.0047	L	0.35341	1.055	0.09310	N	1	B	0.17038	0.02	B	0.23275	0.045	T	0.44682	-0.9312	10	0.39692	T	0.17	-10.7394	8.1317	0.31031	0.3149:0.5323:0.1528:0.0	.	72	Q8WZ94	OR5P3_HUMAN	A	72	ENSP00000332068:G72A	ENSP00000332068:G72A	G	-	2	0	OR5P3	7803881	0.009000	0.17119	0.006000	0.13384	0.002000	0.02628	2.470000	0.45119	1.387000	0.46486	0.644000	0.83932	GGG		0.438	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		11	37	0	0	0	1	0	11	37					G	7847305	C	G	7847305	3	3	250	1	0	0	0	0	1	0	0	0	11179	623	22	4	723	4	OR5P3	11	7847305	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24	7847305	127159211	14	28667			1	26		2	2	25	N	C_A	2.868477e-05
DAGLA	747	broad.mit.edu	37	chr11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctctccttccttctgcGcccacagtatccgaccctca	4	20	3	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:61504739G>A	ENST00000257215.5	+	14	1573	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	486					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R486H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647																																						ENST00000257215.5																			1	Substitution - Missense(1)	p.R486H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1456-1458)cGc>cAc		diacylglycerol lipase, alpha							158	167	164					11																	61504739		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61504739G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1457G>A	11.37:g.61504739G>A	ENSP00000257215:p.Arg486His						p.R486H	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	14	1573	+			486					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1457G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919111	0.92249	.	.	ENSG00000134780	ENST00000257215	T	0.32515	1.45	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.55211	-0.8176	10	0.52906	T	0.07	-26.5472	16.264	0.82565	0.0:0.0:1.0:0.0	.	486	Q9Y4D2	DGLA_HUMAN	H	486	ENSP00000257215:R486H	ENSP00000257215:R486H	R	+	2	0	DAGLA	61261315	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.128000	0.94424	1.898000	0.54952	0.306000	0.20318	CGC		0.647	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		16	253	0	0	0	1	0	16	253					A	61504739	G	A	61504739	3	1	250	1	0	0	0	0	1	0	0	0	4226	1087	38	1	1507	1	DAGLA	11	61504739	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	53657434	61504739	73501777	15	28668											
ODZ4	26011	broad.mit.edu	37	chr11	78380316	78380316	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgatgttgtcacaagcTatgtaaaactcatcaccact	6	12	3	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:78380316T>C	ENST00000278550.7	-	32	7536	c.7074A>G	c.(7072-7074)atA>atG	p.I2358M		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2358					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)										TGTCACAAGCTATGTAAAACT	0.483																																						ENST00000278550.7																			0											c.(7072-7074)atA>atG		teneurin transmembrane protein 4							139	141	141					11																	78380316		2057	4216	6273	SO:0001583	missense	26011							g.chr11:78380316T>C	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.7074A>G	11.37:g.78380316T>C	ENSP00000278550:p.Ile2358Met						p.I2358M	NM_001098816.2	NP_001092286.2					32	7536	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7074A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806986	0.31961	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90732	-2.72;0.75	5.14	-8.25	0.01025	.	0.052638	0.64402	D	0.000001	D	0.85643	0.5744	M	0.71036	2.16	0.29303	N	0.868579	P	0.46395	0.877	B	0.42462	0.388	T	0.81127	-0.1074	9	.	.	.	.	10.3264	0.43796	0.2915:0.0:0.473:0.2355	.	2358	Q6N022	TEN4_HUMAN	M	2358;822	ENSP00000278550:I2358M;ENSP00000431711:I822M	.	I	-	3	3	ODZ4	78057964	0.039000	0.19947	0.875000	0.34327	0.962000	0.63368	-0.807000	0.04520	-1.461000	0.01909	-2.426000	0.00216	ATA		0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	85	0	0	0	1	0	4	85					C	78380316	T	C	78380316	3	2	250	1	0	0	0	0	1	0	0	0	10837	1512	53	3	1247	3	ODZ4	11	78380316	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08	16875577	78380316	56626200	16	28669											
C11orf82	220042	broad.mit.edu	37	chr11	82644345	82644345	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagaaatgccttggggAcatatcaataacaacgtaac	8	7	1	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:82644345A>G	ENST00000533655.1	+	6	2177	c.1965A>G	c.(1963-1965)ggA>ggG	p.G655G	C11orf82_ENST00000430323.2_Silent_p.G655G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G354G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		655					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						TGCCTTGGGGACATATCAATA	0.343																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(1963-1965)ggA>ggG		chromosome 11 open reading frame 82							156	147	150					11																	82644345		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644345A>G																												ENST00000533655.1:c.1965A>G	11.37:g.82644345A>G						C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G655G|C11orf82_ENST00000329143.3_Silent_p.G354G	p.G655G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2177	+			655					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.1965A>G	CCDS8263.1																																																																																				0.343	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			8	128	0	0	0	1	0	8	128					G	82644345	A	G	82644345	2	3	250	1	0	0	0	0	0	0	0	1	1665	262	10	3		3	C11orf82	11	82644345	Silent	SNP	A	TCGA-HT-7603-01A-21D-2086-08	4264029	82644345	52362171	17	28670											
CLSTN3	9746	broad.mit.edu	37	chr12	7302188	7302188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatttctctggtgggggAtgacctggatcccgagcggg	16	8	1	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:7302188A>G	ENST00000266546.6	+	14	2594	c.2144A>G	c.(2143-2145)gAt>gGt	p.D715G	CLSTN3_ENST00000537408.1_Missense_Mutation_p.D727G	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	715					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D715V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTGGTGGGGGATGACCTGGAT	0.567																																						ENST00000537408.1																			1	Substitution - Missense(1)	p.D715V(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2179-2181)gAt>gGt		calsyntenin 3							89	80	83					12																	7302188		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302188A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2144A>G	12.37:g.7302188A>G	ENSP00000266546:p.Asp715Gly					CLSTN3_ENST00000266546.6_Missense_Mutation_p.D715G	p.D727G			Q9BQT9	CSTN3_HUMAN			13	2718	+			715					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2180A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370346	0.61624	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.32272	1.46;1.46	5.67	5.67	0.87782	.	0.056408	0.64402	D	0.000001	T	0.24470	0.0593	N	0.24115	0.695	0.58432	D	0.999992	P;B	0.47762	0.9;0.002	B;B	0.42214	0.38;0.009	T	0.02574	-1.1139	10	0.46703	T	0.11	-23.6603	14.4848	0.67609	1.0:0.0:0.0:0.0	.	727;715	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	G	715;727	ENSP00000266546:D715G;ENSP00000440679:D727G	ENSP00000266546:D715G	D	+	2	0	CLSTN3	7193455	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.982000	0.93471	2.161000	0.67846	0.459000	0.35465	GAT		0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		4	36	0	0	0	1	0	4	36					G	7302188	A	G	7302188	3	3	250	1	0	0	0	0	1	0	0	0	3563	333	12	3	2198	3	CLSTN3	12	7302188	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7302188	126549707	18	28671											
TAOK3	51347	broad.mit.edu	37	chr12	118693346	118693346	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaatagatcggcaatctcTgggtccttcagcaccccttt	8	12	2	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:118693346T>C	ENST00000392533.3	-	3	517	c.27A>G	c.(25-27)ccA>ccG	p.P9P	TAOK3_ENST00000419821.2_Silent_p.P9P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	9					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAATCTCTGGGTCCTTCA	0.398																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(25-27)ccA>ccG		TAO kinase 3							135	136	136					12																	118693346		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118693346T>C	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.27A>G	12.37:g.118693346T>C						TAOK3_ENST00000419821.2_Silent_p.P9P	p.P9P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			3	517	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		9					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.27A>G	CCDS9188.1																																																																																				0.398	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		10	97	0	0	0	1	0	10	97					C	118693346	T	C	118693346	2	2	250	1	0	0	0	0	0	0	0	1	15546	1567	55	3		3	TAOK3	12	118693346	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08	111391158	118693346	15158549	19	28672											
RIMBP2	23504	broad.mit.edu	37	chr12	130898840	130898840	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggagaaaggcggtctcGcccgtaatcgtctgcgagca	14	11	3	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:130898840G>A	ENST00000261655.4	-	14	2645	c.2482C>T	c.(2482-2484)Cga>Tga	p.R828*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	828					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCGGTCTCGCCCGTAATCG	0.567																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2482-2484)Cga>Tga		RIMS binding protein 2							56	63	61					12																	130898840		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130898840G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2482C>T	12.37:g.130898840G>A	ENSP00000261655:p.Arg828*						p.R828*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2645	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	828					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.2482C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	41	8.955794	0.99016	.	.	ENSG00000060709	ENST00000261655	.	.	.	4.49	3.56	0.40772	.	0.241250	0.34245	N	0.004126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-0.8212	13.4904	0.61390	0.0:0.0:0.8295:0.1705	.	.	.	.	X	828	.	ENSP00000261655:R828X	R	-	1	2	RIMBP2	129464793	0.991000	0.36638	0.040000	0.18447	0.383000	0.30230	5.335000	0.65929	0.919000	0.36945	0.650000	0.86243	CGA		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		18	27	0	0	0	1	0	18	27					A	130898840	G	A	130898840	4	1	250	1	0	0	0	0	0	1	0	0	13363	1095	38	1	700	1	RIMBP2	12	130898840	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	12205494	130898840	2953055	20	28673											
RCBTB2	1102	broad.mit.edu	37	chr13	49070412	49070412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtttgttggcagagcTttttcaaacgattttctcta	8	6	2	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:49070412T>C	ENST00000344532.3	-	14	1853	c.1430A>G	c.(1429-1431)aAg>aGg	p.K477R	RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	477					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTGGCAGAGCTTTTTCAAACG	0.463																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1429-1431)aAg>aGg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							108	102	104					13																	49070412		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49070412T>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1430A>G	13.37:g.49070412T>C	ENSP00000345144:p.Lys477Arg					RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R	p.K477R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	14	1853	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	477					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1430A>G	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	t	13.99	2.400658	0.42613	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.67698	-0.28;-0.28;-0.28	5.04	5.04	0.67666	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.092241	0.85682	D	0.000000	T	0.45013	0.1321	N	0.05619	-0.005	0.80722	D	1	B;B;B;B	0.14805	0.011;0.001;0.011;0.001	B;B;B;B	0.23150	0.044;0.019;0.015;0.019	T	0.38112	-0.9676	10	0.27082	T	0.32	.	10.3447	0.43899	0.0:0.0777:0.0:0.9222	.	203;482;429;477	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	R	477;429;482;482;203	ENSP00000345144:K477R;ENSP00000389910:K482R;ENSP00000443862:K203R	ENSP00000345144:K477R	K	-	2	0	RCBTB2	47968413	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.644000	0.61397	2.021000	0.59480	0.456000	0.33151	AAG		0.463	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		8	46	0	0	0	1	0	8	46					C	49070412	T	C	49070412	3	2	250	1	0	0	0	0	1	0	0	0	13172	1609	56	3	233	3	RCBTB2	13	49070412	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08		49070412	66099466	21	28674											
FAM124A	220108	broad.mit.edu	37	chr13	51825995	51825995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctttgggccatccggccCgtgcactacggcaaggaaat	12	14	0	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:51825995C>T	ENST00000322475.8	+	3	627	c.492C>T	c.(490-492)ccC>ccT	p.P164P	FAM124A_ENST00000280057.6_Silent_p.P200P	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	164										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCCGGCCCGTGCACTACG	0.632																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(490-492)ccC>ccT		family with sequence similarity 124A							24	23	24					13																	51825995		2202	4300	6502	SO:0001819	synonymous_variant	220108							g.chr13:51825995C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.492C>T	13.37:g.51825995C>T						FAM124A_ENST00000280057.6_Silent_p.P200P	p.P164P	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	627	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	164					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.492C>T	CCDS55900.1																																																																																				0.632	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		4	6	0	0	0	1	0	4	6					T	51825995	C	T	51825995	2	4	250	1	0	0	0	0	0	0	0	1	5425	639	23	1		1	FAM124A	13	51825995	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	2755583	51825995	63343883	22	28675											
TNRC6A	27327	broad.mit.edu	37	chr16	24788378	24788378	+	Missense_Mutation	SNP	G	G	T													gccaacaatcagcagccacaGcagcagcagcaacagcagca							TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788378G>T	ENST00000395799.3	+	5	417	c.288G>T	c.(286-288)caG>caT	p.Q96H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	96	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|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)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agcagccacagcagcagcagc	0.597																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(286-288)caG>caT		trinucleotide repeat containing 6A							26	34	31					16																	24788378		2153	4253	6406	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788378G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.288G>T	16.37:g.24788378G>T	ENSP00000379144:p.Gln96His					TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H	p.Q96H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	417	+			96			Gln-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.288G>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	9.708	1.156349	0.21454	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13196	2.66;2.61	4.55	1.53	0.23141	.	0.486389	0.19060	N	0.123789	T	0.09949	0.0244	L	0.38175	1.15	0.22378	N	0.999153	B	0.31790	0.34	B	0.30855	0.121	T	0.20538	-1.0272	10	0.59425	D	0.04	4.9027	6.5609	0.22485	0.2982:0.0:0.7018:0.0	.	96	Q8NDV7	TNR6A_HUMAN	H	96	ENSP00000326900:Q96H;ENSP00000379144:Q96H	ENSP00000326900:Q96H	Q	+	3	2	TNRC6A	24695879	0.997000	0.39634	0.066000	0.19879	0.696000	0.40369	1.074000	0.30703	0.409000	0.25649	0.591000	0.81541	CAG		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	23	1	0	5.50884e-06	1	5.89317e-06	11	23					T	24788378	G	T	24788378	3	4	250	1	0	0	0	0	1	0	0	0	16337	962	34	4	306	4	TNRC6A	16	24788378	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		24788378	65566375	23	28676	136	2									
TNRC6A	27327	broad.mit.edu	37	chr16	24788379	24788379	+	Nonsense_Mutation	SNP	C	C	T													ccaacaatcagcagccacagCagcagcagcaacagcagcag							TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788379C>T	ENST00000395799.3	+	5	418	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	97	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|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)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gcagccacagcagcagcagca	0.602																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(289-291)Cag>Tag		trinucleotide repeat containing 6A							25	34	31					16																	24788379		2146	4247	6393	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788379C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.289C>T	16.37:g.24788379C>T	ENSP00000379144:p.Gln97*					TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97*	p.Q97*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	418	+			97			Gln-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.289C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327533	0.60743	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	.	.	.	4.44	4.44	0.53790	.	0.131961	0.34507	N	0.003914	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.0368	12.883	0.58028	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000326900:Q97X	Q	+	1	0	TNRC6A	24695880	1.000000	0.71417	0.080000	0.20451	0.679000	0.39708	3.892000	0.56235	2.757000	0.94681	0.591000	0.81541	CAG		0.602	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	22	0	0	0	1	0	11	22					T	24788379	C	T	24788379	4	4	250	1	0	0	0	0	0	1	0	0	16337	711	25	2	307	2	TNRC6A	16	24788379	Nonsense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1	24788379	65566374	24	28677	136	2									
SALL1	6299	broad.mit.edu	37	chr16	51171049	51171049	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtgacgatctccttgctgtCctccacgaagcgggtgaagc	12	13	1	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:51171049C>A	ENST00000251020.4	-	3	3982	c.3949G>T	c.(3949-3951)Gac>Tac	p.D1317Y	SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.D1220Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1317					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|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)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTTGCTGTCCTCCACGAAG	0.567																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3658-3660)Gac>Tac		spalt-like transcription factor 1							63	54	57					16																	51171049		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171049C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3949G>T	16.37:g.51171049C>A	ENSP00000251020:p.Asp1317Tyr					SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000251020.4_Missense_Mutation_p.D1317Y	p.D1220Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	4089	-		all_cancers(37;0.0322)	1317					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3658G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757629	0.69648	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.56941	0.43;0.43;0.43	5.8	5.8	0.92144	.	0.140838	0.64402	D	0.000005	T	0.71213	0.3313	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.74023	0.733;0.982	T	0.71951	-0.4437	10	0.87932	D	0	-22.5924	20.0486	0.97617	0.0:1.0:0.0:0.0	.	1317;140	Q9NSC2;F5H733	SALL1_HUMAN;.	Y	1317;1220;1281;140	ENSP00000251020:D1317Y;ENSP00000407914:D1220Y;ENSP00000442827:D140Y	ENSP00000251020:D1317Y	D	-	1	0	SALL1	49728550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.800000	0.85949	2.752000	0.94435	0.643000	0.83706	GAC		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		14	35	1	0	3.45872e-05	1	3.61593e-05	14	35					A	51171049	C	A	51171049	3	1	250	1	0	0	0	0	1	0	0	0	13810	855	30	4	29	4	SALL1	16	51171049	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	26382670	51171049	39183704	25	28678											
ACD	65057	broad.mit.edu	37	chr16	67694142	67694142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccccacggctacacccagCggatgcaacgggcccgggtt	12	16	0	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:67694142C>T	ENST00000393919.4	-	1	504	c.240G>A	c.(238-240)ccG>ccA	p.P80P	PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Silent_p.P80P|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	80					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		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)		CTACACCCAGCGGATGCAACG	0.706																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(238-240)ccG>ccA		adrenocortical dysplasia homolog (mouse)							28	37	34					16																	67694142		2163	4272	6435	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694142C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.240G>A	16.37:g.67694142C>T						ACD_ENST00000393919.4_Silent_p.P80P	p.P80P	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	571	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	80					Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.240G>A	CCDS42181.1																																																																																				0.706	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		3	44	0	0	0	1	0	3	44					T	67694142	C	T	67694142	2	4	250	1	0	0	0	0	0	0	0	1	135	755	27	1		1	ACD	16	67694142	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	16523093	67694142	22660611	26	28679											
CIRH1A	84916	broad.mit.edu	37	chr16	69199373	69199373	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagttttcatcccaagagaCcgatgcacatccttctccat	5	14	3	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:69199373C>G	ENST00000314423.7	+	15	1954	c.1777C>G	c.(1777-1779)Ccg>Gcg	p.P593A	CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A|CIRH1A_ENST00000563094.1_Missense_Mutation_p.P593A			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)		TCCCAAGAGACCGATGCACAT	0.463																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1777-1779)Ccg>Gcg		cirrhosis, autosomal recessive 1A (cirhin)							189	146	160					16																	69199373		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69199373C>G	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.1777C>G	16.37:g.69199373C>G	ENSP00000327179:p.Pro593Ala					CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A|CIRH1A_ENST00000314423.7_Missense_Mutation_p.P593A	p.P593A			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1811	+			593					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1777C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012832	0.54468	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30714	1.52;2.29	6.17	5.22	0.72569	.	0.101143	0.64402	N	0.000001	T	0.35364	0.0929	M	0.73598	2.24	0.48185	D	0.999607	B;B	0.29909	0.261;0.197	B;B	0.29524	0.091;0.103	T	0.20338	-1.0278	10	0.52906	T	0.07	.	12.0943	0.53747	0.1357:0.7336:0.1307:0.0	.	593;593	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	593;478	ENSP00000327179:P593A;ENSP00000339164:P478A	ENSP00000327179:P593A	P	+	1	0	CIRH1A	67756874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.031000	0.64134	1.611000	0.50210	0.655000	0.94253	CCG		0.463	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		11	37	0	0	0	1	0	11	37					G	69199373	C	G	69199373	3	3	250	1	0	0	0	0	1	0	0	0	3434	507	18	4	1831	4	CIRH1A	16	69199373	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1505231	69199373	21155380	27	28680											
KIAA0664	23277	broad.mit.edu	37	chr17	2605307	2605307	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctcttgagcaggtctcGgacatggcgcacgtggatgc	15	11	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:2605307G>A	ENST00000570628.2	-	4	511	c.406C>T	c.(406-408)Cga>Tga	p.R136*	CLUH_ENST00000435359.1_Nonsense_Mutation_p.R136*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.R136*			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	136					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											AGCAGGTCTCGGACATGGCGC	0.627																																						ENST00000570628.1																			0											c.(406-408)Cga>Tga		clustered mitochondria (cluA/CLU1) homolog							60	68	65					17																	2605307		2149	4230	6379	SO:0001587	stop_gained	23277							g.chr17:2605307G>A	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.406C>T	17.37:g.2605307G>A	ENSP00000458986:p.Arg136*					CLUH_ENST00000575014.1_Nonsense_Mutation_p.R68*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.R136*|CLUH_ENST00000435359.1_Nonsense_Mutation_p.R136*	p.R136*							4	511	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Nonsense_Mutation	SNP	ENST00000570628.2	37	c.406C>T	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375609	0.82682	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	.	.	.	5.25	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5048	0.67746	0.0:0.0:0.8528:0.1472	.	.	.	.	X	136	.	ENSP00000320468:R136X	R	-	1	2	KIAA0664	2552057	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.220000	0.51207	1.203000	0.43233	0.591000	0.81541	CGA		0.627	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		11	16	0	0	0	1	0	11	16					A	2605307	G	A	2605307	4	1	250	1	0	0	0	0	0	1	0	0	8189	1124	39	1	3615	1	KIAA0664	17	2605307	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		2605307	78589903	28	28681											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575|rs397516437		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	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	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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)				TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	18	0	0	0	1	0	27	18					T	7577548	C	T	7577548	3	4	250	1	0	0	0	0	1	0	0	0	16378	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	4972241	7577548	73617662	29	28682											
CCDC45	90799	broad.mit.edu	37	chr17	62518886	62518886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctatccgagcagctaTtcctttacatccaccctacc	6	16	0	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:62518886T>G	ENST00000556440.2	+	8	1292	c.782T>G	c.(781-783)aTt>aGt	p.I261S	CEP95_ENST00000553412.1_Missense_Mutation_p.I97S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	261						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CGAGCAGCTATTCCTTTACAT	0.483																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(781-783)aTt>aGt		centrosomal protein 95kDa							96	95	95					17																	62518886		1900	4118	6018	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62518886T>G	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.782T>G	17.37:g.62518886T>G	ENSP00000450461:p.Ile261Ser					CEP95_ENST00000553412.1_Missense_Mutation_p.I97S	p.I261S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			8	1292	+			261					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.782T>G	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883503	0.72410	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.50277	0.8;0.75	5.73	5.73	0.89815	.	0.237105	0.42964	D	0.000626	T	0.66137	0.2759	M	0.70275	2.135	0.46298	D	0.998978	D	0.76494	0.999	D	0.64877	0.93	T	0.70096	-0.4966	10	0.87932	D	0	-8.6411	14.5846	0.68315	0.0:0.0:0.0:1.0	.	261	Q96GE4	CEP95_HUMAN	S	196;261;97	ENSP00000450461:I261S;ENSP00000450906:I97S	ENSP00000438458:I196S	I	+	2	0	CEP95	59949348	1.000000	0.71417	0.993000	0.49108	0.511000	0.34104	5.430000	0.66501	2.191000	0.70037	0.482000	0.46254	ATT		0.483	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		4	40	0	0	0	1	0	4	40					G	62518886	T	G	62518886	3	3	250	1	0	0	0	0	1	0	0	0	2816	1493	52	5	812	5	CCDC45	17	62518886	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08	54941338	62518886	18676324	30	28683											
DSG2	1829	broad.mit.edu	37	chr18	29126613	29126613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctctgccagatttTggtttagaggaatctggtca	11	10	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr18:29126613T>C	ENST00000261590.8	+	15	3473	c.3264T>C	c.(3262-3264)ttT>ttC	p.F1088F	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1088					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)			TGCCAGATTTTGGTTTAGAGG	0.473																																						ENST00000261590.8																			0				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						c.(3262-3264)ttT>ttC		desmoglein 2							83	81	82					18																	29126613		1937	4142	6079	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126613T>C	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.3264T>C	18.37:g.29126613T>C						RP11-75N4.2_ENST00000583706.1_RNA	p.F1088F	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3473	+			1088					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.3264T>C	CCDS42423.1																																																																																				0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		6	49	0	0	0	1	0	6	49					C	29126613	T	C	29126613	2	2	250	1	0	0	0	0	0	0	0	1	4777	1809	63	3		3	DSG2	18	29126613	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08		29126613	48950635	31	28684											
GADD45GIP1	90480	broad.mit.edu	37	chr19	13065170	13065170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagcagctcctggaagCgggcactccttgggtccacc	13	15	0	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:13065170C>T	ENST00000316939.1	-	2	544	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	174					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CTCCTGGAAGCGGGCACTCCT	0.622																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(520-522)cGc>cAc		growth arrest and DNA-damage-inducible, gamma interacting protein 1							72	75	74					19																	13065170		2203	4300	6503	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065170C>T	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.521G>A	19.37:g.13065170C>T	ENSP00000323065:p.Arg174His						p.R174H	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	544	-			174					Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.521G>A	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885496	0.72410	.	.	ENSG00000179271	ENST00000316939	.	.	.	4.74	3.71	0.42584	.	0.069774	0.56097	D	0.000028	T	0.69061	0.3069	M	0.74881	2.28	0.40407	D	0.979711	D	0.76494	0.999	D	0.68765	0.96	T	0.72001	-0.4422	9	0.72032	D	0.01	-31.637	5.5206	0.16931	0.0:0.721:0.0:0.279	.	174	Q8TAE8	G45IP_HUMAN	H	174	.	ENSP00000323065:R174H	R	-	2	0	GADD45GIP1	12926170	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	3.816000	0.55658	2.217000	0.71921	0.558000	0.71614	CGC		0.622	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		17	31	0	0	0	1	0	17	31					T	13065170	C	T	13065170	3	4	250	1	0	0	0	0	1	0	0	0	6184	768	27	1	151	1	GADD45GIP1	19	13065170	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		13065170	46063813	32	28685											
EMR2	30817	broad.mit.edu	37	chr19	14876167	14876167	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggccaagcctggcttgtagtCtctgcccaggtcctggactt	12	13	1	0			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:14876167C>G	ENST00000315576.3	-	10	1322	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EMR2_ENST00000392965.3_Missense_Mutation_p.D291H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	291					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						GGCTTGTAGTCTCTGCCCAGG	0.602																																						ENST00000315576.3																			0				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						c.(871-873)Gac>Cac		egf-like module containing, mucin-like, hormone receptor-like 2							129	115	120					19																	14876167		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14876167C>G	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.871G>C	19.37:g.14876167C>G	ENSP00000319883:p.Asp291His					EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000392965.3_Missense_Mutation_p.D291H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H	p.D291H	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			10	1322	-			291					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.871G>C	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177966	0.38413	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.80123	-1.02;-1.18;-0.51;0.31;0.96;-1.34;1.22;-1.21	3.84	-2.99	0.05497	.	.	.	.	.	T	0.69628	0.3132	L	0.47716	1.5	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.23377	0.006;0.004;0.037;0.012;0.004;0.022;0.005;0.084	B;B;B;B;B;B;B;B	0.23419	0.005;0.009;0.01;0.015;0.009;0.02;0.006;0.046	T	0.60052	-0.7338	9	0.66056	D	0.02	.	4.4369	0.11555	0.0:0.3282:0.1755:0.4963	.	291;198;291;149;242;291;291;291	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	H	291;291;242;198;149;291;30;242	ENSP00000319883:D291H;ENSP00000376694:D291H;ENSP00000263380:D242H;ENSP00000319454:D198H;ENSP00000319838:D149H;ENSP00000376692:D291H;ENSP00000376691:D30H;ENSP00000376689:D242H	ENSP00000319883:D291H	D	-	1	0	EMR2	14737167	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.763000	0.01802	-0.314000	0.08716	0.388000	0.25769	GAC		0.602	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			5	91	0	0	0	1	0	5	91					G	14876167	C	G	14876167	3	3	250	1	0	0	0	0	1	0	0	0	5105	913	32	4	1648	4	EMR2	19	14876167	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1810997	14876167	44252816	33	28686											
UBA2	10054	broad.mit.edu	37	chr19	34929585	34929585	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgagtgtcatcctaagccGacccagagaacctttcctgg	9	12	1	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:34929585G>A	ENST00000246548.4	+	6	565	c.495G>A	c.(493-495)ccG>ccA	p.P165P	UBA2_ENST00000439527.2_Silent_p.P69P	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	165					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCTAAGCCGACCCAGAGAA	0.403																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(205-207)ccG>ccA		ubiquitin-like modifier activating enzyme 2							239	210	220					19																	34929585		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34929585G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.495G>A	19.37:g.34929585G>A						UBA2_ENST00000246548.4_Silent_p.P165P	p.P69P			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	705	+	Esophageal squamous(110;0.162)		165					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.207G>A	CCDS12439.1																																																																																				0.403	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		27	83	0	0	0	1	0	27	83					A	34929585	G	A	34929585	2	1	250	1	0	0	0	0	0	0	0	1	16825	1045	37	1		1	UBA2	19	34929585	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	20053418	34929585	24199398	34	28687											
KIF3B	9371	broad.mit.edu	37	chr20	30897692	30897692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggatgtggatgttaagCtggggcaggtgtctgtgaag	19	3	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr20:30897692C>A	ENST00000375712.3	+	2	279	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	38	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			GGATGTTAAGCTGGGGCAGGT	0.522																																						ENST00000375712.3																			0				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						c.(112-114)Ctg>Atg		kinesin family member 3B							158	127	137					20																	30897692		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897692C>A	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.112C>A	20.37:g.30897692C>A	ENSP00000364864:p.Leu38Met						p.L38M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	279	+			38			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.112C>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637401	0.29157	.	.	ENSG00000101350	ENST00000375712	T	0.75477	-0.94	4.76	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	T	0.73140	0.3549	L	0.48986	1.54	0.80722	D	1	B;P	0.45634	0.157;0.863	B;P	0.48982	0.329;0.597	T	0.73452	-0.3978	10	0.49607	T	0.09	.	9.4098	0.38485	0.0:0.8704:0.0:0.1296	.	38;38	B4DYF2;O15066	.;KIF3B_HUMAN	M	38	ENSP00000364864:L38M	ENSP00000364864:L38M	L	+	1	2	KIF3B	30361353	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	1.105000	0.31086	2.630000	0.89119	0.561000	0.74099	CTG		0.522	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		3	36	1	0	1	1	1	3	36					A	30897692	C	A	30897692	3	1	250	1	0	0	0	0	1	0	0	0	8301	796	28	4	114	4	KIF3B	20	30897692	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		30897692	32127828	35	28688											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	4	9	3	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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						TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.R1426*(1)|p.?(1)	central_nervous_system(1)|bone(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						c.(4276-4278)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236	201	213					X																	76909629		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909629G>A	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.4276C>T	X.37:g.76909629G>A	ENSP00000362441:p.Arg1426*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	p.R1426*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4490	-			1426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4276C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	44	11.200502	0.99530	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	3.6	0.41247	.	0.079753	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8333	13.0038	0.58692	0.0:0.0:0.397:0.603	.	.	.	.	X	1426;1388	.	ENSP00000362441:R1426X	R	-	1	2	ATRX	76796285	0.991000	0.36638	0.982000	0.44146	0.683000	0.39861	1.747000	0.38298	0.544000	0.28883	0.502000	0.49764	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		22	20	0	0	0	1	0	22	20					A	76909629	G	A	76909629	4	1	250	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		76909629	78360931	36	28689											
RAP2C	57826	broad.mit.edu	37	chrX	131351245	131351245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaaactgcacagtaagggCagatttgccaacccctccac	8	14	0	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:131351245C>T	ENST00000342983.2	-	2	798	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	18					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)					ACAGTAAGGGCAGATTTGCCA	0.507																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(52-54)Gcc>Acc		RAP2C, member of RAS oncogene family							176	181	179					X																	131351245		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351245C>T	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.52G>A	X.37:g.131351245C>T	ENSP00000340274:p.Ala18Thr					RAP2C_ENST00000460462.1_Intron|RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T	p.A18T	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	798	-	Acute lymphoblastic leukemia(192;0.000127)		18					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.52G>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.652149	0.88056	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.75260	-0.92;-0.92	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.84683	2.71	0.80722	D	1	B	0.25007	0.116	B	0.24541	0.054	T	0.79529	-0.1766	10	0.72032	D	0.01	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	18	Q9Y3L5	RAP2C_HUMAN	T	18	ENSP00000340274:A18T;ENSP00000359911:A18T	ENSP00000340274:A18T	A	-	1	0	RAP2C	131178926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.236000	0.73375	0.502000	0.49764	GCC		0.507	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		6	147	0	0	0	1	0	6	147					T	131351245	C	T	131351245	3	4	250	1	0	0	0	0	1	0	0	0	13042	710	25	2	507	2	RAP2C	23	131351245	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	54441616	131351245	23919315	37	28690											
UTY	7404	broad.mit.edu	37	chrY	15410959	15410959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataaatctatacacagggAcatttgcttcataaagatct	6	7	3	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrY:15410959A>G	ENST00000331397.4	-	24	4462	c.3455T>C	c.(3454-3456)gTc>gCc	p.V1152A	UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A|UTY_ENST00000362096.4_Missense_Mutation_p.V1152A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1152	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATACACAGGGACATTTGCTTC	0.383																																					Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.(3454-3456)gTc>gCc		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked							58	60	59					Y																	15410959		590	1925	2515	SO:0001583	missense	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15410959A>G	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.3455T>C	Y.37:g.15410959A>G	ENSP00000328939:p.Val1152Ala					UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A|UTY_ENST00000362096.4_Missense_Mutation_p.V1152A	p.V1152A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			24	4462	-			1152			JmjC.		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.3455T>C	CCDS14783.1																																																																																				0.383	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660		15	7	0	0	0	1	0	15	7					G	15410959	A	G	15410959	3	3	250	1	0	0	0	0	1	0	0	0	17104	275	10	3	612	3	UTY	24	15410959	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		15410959	43962607	38	28691											
VPS13D	55187	broad.mit.edu	37	chr1	12439544	12439544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtattccgttttccagatAcgagccactgatgctgagaa	10	9	0	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	ENST00000358136.3	+	57	11214	c.11084A>G	c.(11083-11085)tAc>tGc	p.Y3695C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3670C|VPS13D_ENST00000496628.1_3'UTR	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)		TTTTCCAGATACGAGCCACTG	0.498																																						ENST00000358136.3																			0				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						c.(11083-11085)tAc>tGc		vacuolar protein sorting 13 homolog D (S. cerevisiae)							109	104	106					1																	12439544		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12439544A>G	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.11084A>G	1.37:g.12439544A>G	ENSP00000350854:p.Tyr3695Cys					VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3670C	p.Y3695C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		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)	57	11214	+	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)	3694						Missense_Mutation	SNP	ENST00000358136.3	37	c.11084A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.893|9.893	1.204786|1.204786	0.22205|0.22205	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.54071	.|0.59;0.59	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.243104	.|0.42964	.|D	.|0.000631	T|T	0.46034|0.46034	0.1372|0.1372	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.006;0.004	.|B;B	.|0.15052	.|0.012;0.005	T|T	0.40887|0.40887	-0.9539|-0.9539	5|10	.|0.52906	.|T	.|0.07	.|.	14.8428|14.8428	0.70237|0.70237	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3670;3694	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	A|C	2517|3670;3695	.|ENSP00000348666:Y3670C;ENSP00000350854:Y3695C	.|ENSP00000348666:Y3670C	T|Y	+|+	1|2	0|0	VPS13D|VPS13D	12362131|12362131	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.166000|0.166000	0.22503|0.22503	5.531000|5.531000	0.67148|0.67148	2.036000|2.036000	0.60181|0.60181	0.528000|0.528000	0.53228|0.53228	ACG|TAC		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		36	53	0	0	0	1	0	36	53					G	12439544	A	G	12439544	3	3	251	1	0	0	0	0	1	0	0	0	17189	391	14	3	11306	3	VPS13D	1	12439544	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		12439544	236811077	1	28692											
C1orf183	55924	broad.mit.edu	37	chr1	112270041	112270041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgtcgattccggcccCgggacatcaacgtggaggtc	15	12	1	0	rs142952172		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:112270041C>T	ENST00000357260.5	-	2	624	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FAM212B_ENST00000444059.2_Missense_Mutation_p.R133Q|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	148										cervix(1)|endometrium(1)	2						ATTCCGGCCCCGGGACATCAA	0.587																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(442-444)cGg>cAg		family with sequence similarity 212, member B		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	71	64	67		443,398	4.1	1	1	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C1orf183	NM_019099.4,NM_198926.2	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	148/298,133/283	112270041	2,13004	2203	4300	6503	SO:0001583	missense	55924							g.chr1:112270041C>T	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.443G>A	1.37:g.112270041C>T	ENSP00000349805:p.Arg148Gln					FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.R133Q	p.R148Q	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN			2	624	-			148					B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	c.443G>A	CCDS841.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.34	2.505658	0.44558	2.27E-4	1.16E-4	ENSG00000197852	ENST00000357260;ENST00000444059;ENST00000527621	.	.	.	5.13	4.06	0.47325	.	0.200555	0.43919	D	0.000505	T	0.10380	0.0254	L	0.51914	1.62	0.29395	N	0.862343	P;P	0.37997	0.614;0.614	B;B	0.29785	0.066;0.107	T	0.13150	-1.0520	9	0.22706	T	0.39	-18.4388	6.2336	0.20750	0.0:0.6095:0.0:0.3905	.	133;148	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	Q	148;133;157	.	ENSP00000349805:R148Q	R	-	2	0	C1orf183	112071564	0.996000	0.38824	0.996000	0.52242	0.995000	0.86356	2.951000	0.49089	0.888000	0.36160	0.484000	0.47621	CGG		0.587	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		34	37	0	0	0	1	0	34	37					T	112270041	C	T	112270041	3	4	251	1	0	0	0	0	1	0	0	0	2019	652	23	1	454	1	C1orf183	1	112270041	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	99830497	112270041	136980580	2	28693											
ADAR	103	broad.mit.edu	37	chr1	154574313	154574313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtctgagtttggggAtccttggctatgactgtctg	14	8	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:154574313A>C	ENST00000368474.4	-	2	1004	c.805T>G	c.(805-807)Tcc>Gcc	p.S269A	ADAR_ENST00000292205.5_Missense_Mutation_p.S312A|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	269					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGATCCTTGGCTA	0.488																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(805-807)Tcc>Gcc		adenosine deaminase, RNA-specific							157	160	159					1																	154574313		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574313A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.805T>G	1.37:g.154574313A>C	ENSP00000357459:p.Ser269Ala					ADAR_ENST00000292205.5_Missense_Mutation_p.S312A|ADAR_ENST00000368471.3_5'UTR	p.S269A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1004	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		269					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.805T>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	0.346	-0.947885	0.02304	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.12147	2.71;2.73;2.74	3.89	-2.52	0.06346	.	2.245370	0.01771	N	0.031202	T	0.00754	0.0025	N	0.00554	-1.385	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.39121	-0.9629	10	0.09338	T	0.73	.	4.1525	0.10245	0.4525:0.359:0.0:0.1885	.	269;269;269	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	312;269;264	ENSP00000292205:S312A;ENSP00000357459:S269A;ENSP00000431794:S264A	ENSP00000292205:S312A	S	-	1	0	ADAR	152840937	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.217000	0.02979	-0.644000	0.05465	-0.369000	0.07265	TCC		0.488	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		4	188	0	0	0	1	0	4	188					C	154574313	A	C	154574313	3	2	251	1	0	0	0	0	1	0	0	0	281	333	12	5	2931	5	ADAR	1	154574313	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	42304272	154574313	94676308	3	28694											
FASLG	356	broad.mit.edu	37	chr1	172634805	172634805	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctggaatgggaagacacCtatggaattgtcctgctttc	10	10	1	1	rs80358236		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	ENST00000367721.2	+	4	679	c.495C>A	c.(493-495)acC>acA	p.T165T	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	165					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)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|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 neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGAAGACACCTATGGAATTG	0.428																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(493-495)acC>acA		Fas ligand (TNF superfamily, member 6)							132	116	122					1																	172634805		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172634805C>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.495C>A	1.37:g.172634805C>A						FASLG_ENST00000340030.3_3'UTR	p.T165T	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			4	679	+			165					Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.495C>A	CCDS1304.1																																																																																				0.428	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			5	68	1	0	4.096e-09	1	4.22603e-09	5	68					A	172634805	C	A	172634805	2	1	251	1	0	0	0	0	0	0	0	1	5682	668	24	4		4	FASLG	1	172634805	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	18060492	172634805	76615816	4	28695											
APOB	338	broad.mit.edu	37	chr2	21230555	21230555	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttccctgttaaccttAatggaaaacgaactttcaaa	4	10	2	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	ENST00000233242.1	-	26	9312	c.9185T>G	c.(9184-9186)tTa>tGa	p.L3062*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3062					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)					TGTTAACCTTAATGGAAAACG	0.408																																						ENST00000233242.1																			0				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						c.(9184-9186)tTa>tGa		apolipoprotein B	Atorvastatin(DB01076)						74	75	75					2																	21230555		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230555A>C	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.9185T>G	2.37:g.21230555A>C	ENSP00000233242:p.Leu3062*						p.L3062*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9312	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3062					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.9185T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	49	15.509782	0.99836	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	5.87	0.94306	.	0.315837	0.23336	N	0.049293	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3353	0.49500	0.9298:0.0:0.0702:0.0	.	.	.	.	X	3062	.	ENSP00000233242:L3062X	L	-	2	0	APOB	21084060	0.828000	0.29307	0.366000	0.25914	0.569000	0.35902	5.157000	0.64911	2.244000	0.73946	0.533000	0.62120	TTA		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	63	0	0	0	1	0	4	63					C	21230555	A	C	21230555	4	2	251	1	0	0	0	0	0	1	0	0	785	372	13	5	4522	5	APOB	2	21230555	Nonsense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		21230555	221968818	5	28696											
TEKT4	150483	broad.mit.edu	37	chr2	95542422	95542422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggagaaggacattgccGccatgaccaacagtctcttc	10	13	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	ENST00000295201.4	+	6	1353	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	406					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.A406P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACATTGCCGCCATGACCAA	0.592																																						ENST00000295201.4																			1	Substitution - Missense(1)	p.A406P(1)	endometrium(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1216-1218)Gcc>Acc		tektin 4							79	57	65					2																	95542422		2203	4300	6503	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95542422G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1216G>A	2.37:g.95542422G>A	ENSP00000295201:p.Ala406Thr					AC097374.2_ENST00000568768.1_RNA	p.A406T	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			6	1353	+			406						Missense_Mutation	SNP	ENST00000295201.4	37	c.1216G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	9.112	1.006692	0.19199	.	.	ENSG00000163060	ENST00000295201	T	0.02446	4.29	2.43	-4.3	0.03710	.	0.577256	0.18611	N	0.136141	T	0.00936	0.0031	N	0.02539	-0.55	0.28544	N	0.911951	B	0.22800	0.075	B	0.18263	0.021	T	0.41305	-0.9516	10	0.27785	T	0.31	-15.1058	3.4062	0.07341	0.5759:0.0:0.2385:0.1856	.	406	Q8WW24	TEKT4_HUMAN	T	406	ENSP00000295201:A406T	ENSP00000295201:A406T	A	+	1	0	TEKT4	94906149	0.690000	0.27699	0.098000	0.21074	0.400000	0.30750	1.024000	0.30077	-1.004000	0.03421	-0.998000	0.02512	GCC		0.592	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		18	34	0	0	0	1	0	18	34					A	95542422	G	A	95542422	3	1	251	1	0	0	0	0	1	0	0	0	15752	1087	38	1	1238	1	TEKT4	2	95542422	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	74311867	95542422	147656951	6	28697											
ZEB2	9839	broad.mit.edu	37	chr2	145147369	145147369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgggttccaagtgcccTttctcgcgcgcctcgcgctc	12	16	1	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	ENST00000558170.2	-	10	4478	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K	ZEB2_ENST00000539609.3_Silent_p.K1074K|ZEB2_ENST00000409487.3_Silent_p.K1098K|ZEB2_ENST00000303660.4_Silent_p.K1098K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1098	Glu-rich (acidic).				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)		CCAAGTGCCCTTTCTCGCGCG	0.617																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(3292-3294)aaA>aaG		zinc finger E-box binding homeobox 2							58	59	59					2																	145147369		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147369T>C	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.3294A>G	2.37:g.145147369T>C						ZEB2_ENST00000303660.4_Silent_p.K1098K|ZEB2_ENST00000539609.3_Silent_p.K1074K|ZEB2_ENST00000409487.3_Silent_p.K1098K	p.K1098K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4478	-			1098			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3294A>G	CCDS2186.1																																																																																				0.617	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		25	60	0	0	0	1	0	25	60					C	145147369	T	C	145147369	2	2	251	1	0	0	0	0	0	0	0	1	17621	1606	56	3		3	ZEB2	2	145147369	Silent	SNP	T	TCGA-HT-7604-01A-11D-2086-08	49604947	145147369	98052004	7	28698											
LRP2	4036	broad.mit.edu	37	chr2	170030513	170030513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggatgcagcggccatTagcacaccgaaactggcccg	13	14	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	ENST00000263816.3	-	56	11215	c.10930A>G	c.(10930-10932)Aat>Gat	p.N3644D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3644	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	CAGCGGCCATTAGCACACCGA	0.542																																						ENST00000263816.3																			0				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						c.(10930-10932)Aat>Gat		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						82	74	77					2																	170030513		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170030513T>C		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.10930A>G	2.37:g.170030513T>C	ENSP00000263816:p.Asn3644Asp						p.N3644D	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	56	11215	-			3644			LDL-receptor class A 29.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10930A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852498	0.71719	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.91464	-2.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94079	0.8102	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94645	0.7834	10	0.72032	D	0.01	.	15.3359	0.74255	0.0:0.0:0.0:1.0	.	3644	P98164	LRP2_HUMAN	D	3644;339	ENSP00000263816:N3644D	ENSP00000263816:N3644D	N	-	1	0	LRP2	169738759	1.000000	0.71417	0.989000	0.46669	0.041000	0.13682	6.241000	0.72369	2.033000	0.60031	0.524000	0.50904	AAT		0.542	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		33	45	0	0	0	1	0	33	45					C	170030513	T	C	170030513	3	2	251	1	0	0	0	0	1	0	0	0	8956	1754	61	3	3133	3	LRP2	2	170030513	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24883144	170030513	73168860	8	28699											
PPIG	9360	broad.mit.edu	37	chr2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagctgatgagaaggaaaGgaaaaacagagagagagaaa	13	2	0	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	ENST00000260970.3	+	11	1116	c.896G>A	c.(895-897)aGg>aAg	p.R299K	PPIG_ENST00000448752.2_Missense_Mutation_p.R299K|PPIG_ENST00000409714.3_Missense_Mutation_p.R284K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R299K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	299					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.373																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(895-897)aGg>aAg		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						48	45	46					2																	170488410		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170488410G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.896G>A	2.37:g.170488410G>A	ENSP00000260970:p.Arg299Lys					PPIG_ENST00000462903.1_Missense_Mutation_p.R299K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.R284K|PPIG_ENST00000448752.2_Missense_Mutation_p.R299K	p.R299K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			11	1116	+			299					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.896G>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170675	0.38315	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.27720	2.49;2.03;2.48;1.65;2.49	5.3	4.41	0.53225	.	0.304640	0.34245	N	0.004129	T	0.12092	0.0294	N	0.02802	-0.49	0.31504	N	0.66438	B;B;B;B;B	0.21381	0.001;0.0;0.055;0.0;0.0	B;B;B;B;B	0.18263	0.001;0.001;0.021;0.0;0.001	T	0.11251	-1.0595	10	0.20519	T	0.43	-5.5684	9.5988	0.39591	0.079:0.1446:0.7764:0.0	.	292;284;284;299;299	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	K	299;299;292;284;299;299	ENSP00000260970:R299K;ENSP00000408683:R292K;ENSP00000386245:R284K;ENSP00000435987:R299K;ENSP00000407083:R299K	ENSP00000260970:R299K	R	+	2	0	PPIG	170196656	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	3.032000	0.49736	2.456000	0.83038	0.467000	0.42956	AGG		0.373	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			14	16	0	0	0	1	0	14	16					A	170488410	G	A	170488410	3	1	251	1	0	0	0	0	1	0	0	0	12324	1000	35	2	930	2	PPIG	2	170488410	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	457897	170488410	72710963	9	28700											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			47	45	1	0	2.73361e-28	1	2.91287e-28	47	45					T	209113113	G	T	209113113	3	4	251	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	38624703	209113113	34086260	10	28701											
ZFAND2B	130617	broad.mit.edu	37	chr2	220072487	220072487	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgtcgctctgatccagcaCagcaaaaacgtaaggtaaac	8	11	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	ENST00000289528.5	+	3	463	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ZFAND2B_ENST00000409217.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.Q90E	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	90						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557																																						ENST00000409594.1																			0				endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11						c.(268-270)Cag>Gag		zinc finger, AN1-type domain 2B							79	76	77					2																	220072487		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220072487C>G	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.268C>G	2.37:g.220072487C>G	ENSP00000289528:p.Gln90Glu					ZFAND2B_ENST00000409412.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.Q90E	p.Q90E			Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	463	+		Renal(207;0.0915)	90					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.268C>G	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729750	0.69074	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409412;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000409319;ENST00000444522	T;T;T;T;T;T;T;T;T;T	0.43294	1.01;1.01;0.96;0.96;1.02;0.95;0.96;0.97;1.02;0.95	5.32	5.32	0.75619	Zinc finger, AN1-type (1);	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	N	0.12182	0.205	0.58432	D	0.999996	B;B	0.22414	0.032;0.069	B;B	0.17098	0.017;0.014	T	0.11470	-1.0586	10	0.05351	T	0.99	-4.1008	18.8004	0.92015	0.0:1.0:0.0:0.0	.	90;90	Q8WV99;B4DEN4	ZFN2B_HUMAN;.	E	90	ENSP00000386824:Q90E;ENSP00000386399:Q90E;ENSP00000289528:Q90E;ENSP00000409931:Q90E;ENSP00000386847:Q90E;ENSP00000387179:Q90E;ENSP00000386898:Q90E;ENSP00000386370:Q90E;ENSP00000387312:Q90E;ENSP00000411334:Q90E	ENSP00000289528:Q90E	Q	+	1	0	ZFAND2B	219780731	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.256000	0.78350	2.767000	0.95098	0.655000	0.94253	CAG		0.557	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		10	82	0	0	0	1	0	10	82					G	220072487	C	G	220072487	3	3	251	1	0	0	0	0	1	0	0	0	17625	479	17	4	278	4	ZFAND2B	2	220072487	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	10959374	220072487	23126886	11	28702											
OR5H1	26341	broad.mit.edu	37	chr3	97852349	97852349	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catctccgcaagcagatgatCaagatatggtggagcctcta	10	10	3	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	ENST00000354565.2	+	1	808	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	270						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGCAGATGATCAAGATATGGT	0.428																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(808-810)Caa>Gaa		olfactory receptor, family 5, subfamily H, member 1							111	118	116					3																	97852349		2203	4298	6501	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852349C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.808C>G	3.37:g.97852349C>G	ENSP00000346575:p.Gln270Glu					RP11-343D2.11_ENST00000508964.1_RNA	p.Q270E	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	808	+			270						Missense_Mutation	SNP	ENST00000354565.2	37	c.808C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	0.710	-0.787669	0.02884	.	.	ENSG00000231192	ENST00000354565	T	0.00137	8.68	3.57	0.25	0.15535	GPCR, rhodopsin-like superfamily (1);	0.312122	0.23230	N	0.050479	T	0.00144	0.0004	L	0.52126	1.63	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.17319	-1.0373	10	0.23302	T	0.38	.	12.4079	0.55451	0.0:0.5162:0.4838:0.0	.	270	A6NKK0	OR5H1_HUMAN	E	270	ENSP00000346575:Q270E	ENSP00000346575:Q270E	Q	+	1	0	OR5H1	99335039	0.000000	0.05858	0.022000	0.16811	0.040000	0.13550	-1.131000	0.03238	0.162000	0.19483	0.195000	0.17529	CAA		0.428	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		39	37	0	0	0	1	0	39	37					G	97852349	C	G	97852349	3	3	251	1	0	0	0	0	1	0	0	0	11159	827	29	4	810	4	OR5H1	3	97852349	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		97852349	100170081	12	28703											
ACAD9	28976	broad.mit.edu	37	chr3	128628194	128628194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttggttaataggacagtgCcaacaagtttgaggagaaca	11	6	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	ENST00000308982.7	+	15	1574	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	498						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGACAGTGCCAACAAGTTT	0.587																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1492-1494)gCc>gGc		acyl-CoA dehydrogenase family, member 9							132	106	115					3																	128628194		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128628194C>G	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.1493C>G	3.37:g.128628194C>G	ENSP00000312618:p.Ala498Gly					ACAD9_ENST00000511526.1_3'UTR	p.A498G	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			15	1574	+			498					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1493C>G	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774447	0.16051	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.87256	-2.23	5.65	4.77	0.60923	.	0.105465	0.64402	D	0.000004	T	0.80412	0.4618	L	0.41236	1.265	0.54753	D	0.999983	B	0.19200	0.034	B	0.14023	0.01	T	0.74000	-0.3805	10	0.30078	T	0.28	.	9.7246	0.40324	0.0:0.9035:0.0:0.0965	.	498	Q9H845	ACAD9_HUMAN	G	498;365	ENSP00000312618:A498G	ENSP00000312618:A498G	A	+	2	0	ACAD9	130110884	0.927000	0.31430	0.225000	0.23894	0.590000	0.36582	2.169000	0.42434	1.353000	0.45828	0.655000	0.94253	GCC		0.587	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		41	86	0	0	0	1	0	41	86					G	128628194	C	G	128628194	3	3	251	1	0	0	0	0	1	0	0	0	111	739	26	4	1551	4	ACAD9	3	128628194	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30775845	128628194	69394236	13	28704											
AADACL2	344752	broad.mit.edu	37	chr3	151461908	151461908	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggcttttgacttcctgaataGatggacggcaaacacgcttg	11	9	0	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	ENST00000356517.3	+	3	498	c.389G>C	c.(388-390)aGa>aCa	p.R130T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	130						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(388-390)aGa>aCa		arylacetamide deacetylase-like 2							169	159	162					3																	151461908		2203	4300	6503	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151461908G>C	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.389G>C	3.37:g.151461908G>C	ENSP00000348911:p.Arg130Thr						p.R130T	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	498	+			130					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.389G>C	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420432	0.42918	.	.	ENSG00000197953	ENST00000356517	T	0.12879	2.64	5.18	4.31	0.51392	Alpha/beta hydrolase fold-3 (1);	0.047682	0.85682	D	0.000000	T	0.35828	0.0945	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.12319	-1.0552	10	0.27785	T	0.31	-17.1227	13.1874	0.59688	0.0786:0.0:0.9214:0.0	.	130	Q6P093	ADCL2_HUMAN	T	130	ENSP00000348911:R130T	ENSP00000348911:R130T	R	+	2	0	AADACL2	152944598	1.000000	0.71417	0.756000	0.31282	0.242000	0.25591	4.840000	0.62817	1.551000	0.49450	0.655000	0.94253	AGA		0.358	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		41	58	0	0	0	1	0	41	58					C	151461908	G	C	151461908	3	2	251	1	0	0	0	0	1	0	0	0	11	942	33	4	399	4	AADACL2	3	151461908	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	22833714	151461908	46560522	14	28705											
GPBP1	65056	broad.mit.edu	37	chr5	56546841	56546841	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagaaagggatataaacCgaaacttcgatgaaaatgaa	8	6	0	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	ENST00000506184.2	+	10	2138	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	GPBP1_ENST00000511209.1_Nonsense_Mutation_p.R337*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.R352*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.R352*|GPBP1_ENST00000454432.2_Nonsense_Mutation_p.R365*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.R174*|GPBP1_ENST00000424459.3_Nonsense_Mutation_p.R365*			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	345					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1093-1095)Cga>Tga		GC-rich promoter binding protein 1							80	81	80					5																	56546841		2202	4300	6502	SO:0001587	stop_gained	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56546841C>T		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1033C>T	5.37:g.56546841C>T	ENSP00000421202:p.Arg345*					GPBP1_ENST00000511209.1_Nonsense_Mutation_p.R337*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.R352*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.R345*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.R352*|GPBP1_ENST00000454432.2_Nonsense_Mutation_p.R365*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.R174*	p.R365*	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	11	2367	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	345					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Nonsense_Mutation	SNP	ENST00000506184.2	37	c.1093C>T	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	C	45	11.758069	0.99599	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	.	.	.	6.15	2.12	0.27331	.	0.113019	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-7.6644	6.4009	0.21638	0.3787:0.4626:0.0961:0.0626	.	.	.	.	X	365;174;345;365;337;352;352	.	ENSP00000264779:R352X	R	+	1	2	GPBP1	56582598	0.980000	0.34600	1.000000	0.80357	0.997000	0.91878	0.921000	0.28718	0.374000	0.24650	0.643000	0.83706	CGA		0.353	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		15	29	0	0	0	1	0	15	29					T	56546841	C	T	56546841	4	4	251	1	0	0	0	0	0	1	0	0	6595	644	23	1	1088	1	GPBP1	5	56546841	Nonsense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		56546841	124368419	15	28706											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812212	140812212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcgaggtgcgcacggCgcgagccctgctggacagag	18	13	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	ENST00000252085.3	+	1	2028	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	629	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1885-1887)gCg>gTg									32	39	37					5																	140812212		2184	4264	6448	SO:0001583	missense	0							g.chr5:140812212C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1886C>T	5.37:g.140812212C>T	ENSP00000252085:p.Ala629Val					PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.A629V	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2028	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1886C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.560986	0.27827	.	.	ENSG00000253159	ENST00000252085	T	0.51071	0.72	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32194	0.0821	N	0.21282	0.65	0.09310	N	1	P;B	0.38992	0.653;0.355	B;B	0.35312	0.178;0.2	T	0.13415	-1.0510	9	0.40728	T	0.16	.	9.6778	0.40052	0.0:0.8414:0.0:0.1586	.	629;629	O60330-2;O60330	.;PCDGC_HUMAN	V	629	ENSP00000252085:A629V	ENSP00000252085:A629V	A	+	2	0	PCDHGA12	140792396	0.000000	0.05858	0.071000	0.20095	0.897000	0.52465	0.239000	0.18023	2.515000	0.84797	0.556000	0.70494	GCG		0.687	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		12	47	0	0	0	1	0	12	47					T	140812212	C	T	140812212	3	4	251	1	0	0	0	0	1	0	0	0	11553	768	27	1	1888	1	PCDHGA12	5	140812212	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	84265371	140812212	40103048	16	28707											
SLC44A4	80736	broad.mit.edu	37	chr6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-													ggatgcgaccggagaaaaaaAagaaggacaggacccctgtg							TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	ENST00000229729.6	-	19	1865_1867	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F|SLC44A4_ENST00000544672.1_In_Frame_Del_p.539_540FF>F	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(1615-1620)ttt>tt		solute carrier family 44, member 4	Choline(DB00122)		,,	17,4247		2,13,2117					,,	-0.5	1			38	10,8244		3,4,4120	no	coding,coding,coding	SLC44A4	NM_025257.2,NM_001178045.1,NM_001178044.1	,,	5,17,6237	A1A1,A1R,RR		0.1212,0.3987,0.2157	,,	,,		27,12491				SO:0001651	inframe_deletion	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832672_31832674delAAG	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1845_1847delCTT	6.37:g.31832675_31832677delAAG	ENSP00000229729:p.Phe618del					SLC44A4_ENST00000229729.6_In_Frame_Del_p.FF617del|SLC44A4_ENST00000375562.4_In_Frame_Del_p.FF575del	p.FF541del	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			19	1913_1915	-			617					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	In_Frame_Del	DEL	ENST00000229729.6	37	c.1617_1619delCTT	CCDS4724.2																																																																																				0.567	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			8	17						8	17	---	---	---	---	-	31832674	AAG	-	31832672	7	5	251	1	0	1	0	1	0	0	0	0	14638	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-HT-7604-01A-11D-2086-08		31832672	139282395	17	28708											
PBX2	5089	broad.mit.edu	37	chr6	32157564	32157564	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctcggcctcccgggacCcccccgctacccccaccggg	9	24	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	ENST00000375050.4	-	1	399	c.129G>T	c.(127-129)ggG>ggT	p.G43G		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	43					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTCCCGGGACCCCCCCGCTAC	0.711																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(127-129)ggG>ggT		pre-B-cell leukemia homeobox 2							29	30	30					6																	32157564		1509	2708	4217	SO:0001819	synonymous_variant	5089						transcription factor binding	g.chr6:32157564C>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.129G>T	6.37:g.32157564C>A							p.G43G	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			1	399	-			43					A2BFJ2	Silent	SNP	ENST00000375050.4	37	c.129G>T	CCDS4748.1																																																																																				0.711	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			32	55	1	0	3.62531e-18	1	3.80073e-18	32	55					A	32157564	C	A	32157564	2	1	251	1	0	0	0	0	0	0	0	1	11493	610	22	4		4	PBX2	6	32157564	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	324892	32157564	138957503	18	28709											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827130	34827130	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcccccagctggcagggaGactgctgtgaatggacaggg	16	10	0	2	rs73419681	byFrequency	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	ENST00000192788.5	+	14	3168	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E	UHRF1BP1_ENST00000452449.2_Silent_p.E999E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	999							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						CTGGCAGGGAGACTGCTGTGA	0.552													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		23558	0.0		0.0	False		,,,				2504	0.0					ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2995-2997)gaG>gaA		UHRF1 binding protein 1		G		34,4072		0,34,2019	58	63	61		2997	-3.3	0	6	dbSNP_130	61	1,8355		0,1,4177	no	coding-synonymous	UHRF1BP1	NM_017754.3		0,35,6196	AA,AG,GG		0.012,0.8281,0.2809		999/1441	34827130	35,12427	2053	4178	6231	SO:0001819	synonymous_variant	54887							g.chr6:34827130G>A	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.2997G>A	6.37:g.34827130G>A						UHRF1BP1_ENST00000452449.2_Silent_p.E999E	p.E999E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	3168	+			999					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.2997G>A	CCDS43455.1																																																																																				0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		30	48	0	0	0	1	0	30	48					A	34827130	G	A	34827130	2	1	251	1	0	0	0	0	0	0	0	1	16965	933	33	2		2	UHRF1BP1	6	34827130	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2669566	34827130	136287937	19	28710											
KIF6	221458	broad.mit.edu	37	chr6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaaggatgttattagtttttCcagcctaaaaatacataatg	6	5	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	ENST00000287152.7	-	11	1280	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_ENST00000538893.1_Missense_Mutation_p.E396Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E235Q|KIF6_ENST00000373215.3_Missense_Mutation_p.E396Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E396Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1186-1188)Gaa>Caa		kinesin family member 6							96	95	95					6																	39513460		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513460C>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1186G>C	6.37:g.39513460C>G	ENSP00000287152:p.Glu396Gln					KIF6_ENST00000373213.4_Missense_Mutation_p.E235Q|KIF6_ENST00000373215.3_Missense_Mutation_p.E396Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E396Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E396Q	p.E396Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			11	1280	-			396					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1186G>C	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.438016|2.438016	0.43326|0.43326	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72505|.	-0.59;-0.6;-0.45;-0.59;-0.66|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|.	.|.	.|.	.|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.32350|.	0.36;0.054;0.12;0.366|.	B;B;B;B|.	0.37267|.	0.245;0.061;0.143;0.164|.	T|T	0.47222|0.47222	-0.9134|-0.9134	9|5	0.27082|.	T|.	0.32|.	.|.	14.7721|14.7721	0.69688|0.69688	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	396;396;396;396|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	Q|C	396;396;235;396;396|287	ENSP00000287152:E396Q;ENSP00000362312:E396Q;ENSP00000362309:E235Q;ENSP00000362311:E396Q;ENSP00000441435:E396Q|.	ENSP00000287152:E396Q|.	E|W	-|-	1|3	0|0	KIF6|KIF6	39621438|39621438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.654000|2.654000	0.46699|0.46699	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GAA|TGG		0.338	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		3	57	0	0	0	1	0	3	57					G	39513460	C	G	39513460	3	3	251	1	0	0	0	0	1	0	0	0	8308	864	30	4	1310	4	KIF6	6	39513460	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	4686330	39513460	131601607	20	28711											
CASP8AP2	9994	broad.mit.edu	37	chr6	90565237	90565237	+	RNA	DEL	A	A	-													tacaaatgaaagagctgatgAaaaaatttaaagaaatacag							TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	ENST00000551025.1	+	0	1711									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)		AGAGCTGATGAAAAAATTTAA	0.279																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							14	14	14					6																	90565237		1689	3819	5508			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90565237delA	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.90565237delA										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1711	+		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)							RNA	DEL	ENST00000551025.1	37																																																																																						0.279	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		2	4						2	4	---	---	---	---	-	90565237	A	-	90565237	6	5	251	0	1	1	0	1	0	0	0	0	2678	247	9	0		0	CASP8AP2	6	90565237	RNA	DEL	A	TCGA-HT-7604-01A-11D-2086-08	51051777	90565237	80549830	21	28712											
C6orf118	168090	broad.mit.edu	37	chr6	165715396	165715396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctcctctgaagtgtgggAaagagaggcctgggggttca	15	8	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	ENST00000230301.8	-	2	435	c.415T>C	c.(415-417)Tcc>Ccc	p.S139P	C6orf118_ENST00000543069.1_Missense_Mutation_p.S35P	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	139										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)		GAAGTGTGGGAAAGAGAGGCC	0.627																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(103-105)Tcc>Ccc		chromosome 6 open reading frame 118							66	75	72					6																	165715396		2203	4299	6502	SO:0001583	missense	168090							g.chr6:165715396A>G		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.415T>C	6.37:g.165715396A>G	ENSP00000230301:p.Ser139Pro					C6orf118_ENST00000230301.8_Missense_Mutation_p.S139P	p.S35P			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	684	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	139					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.103T>C	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728124	0.30593	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.17054	2.52;2.3	4.66	-9.32	0.00643	.	0.823166	0.11152	N	0.594012	T	0.03608	0.0103	L	0.44542	1.39	0.09310	N	1	B	0.21606	0.058	B	0.21917	0.037	T	0.40515	-0.9559	10	0.72032	D	0.01	.	6.4295	0.21788	0.2517:0.1082:0.5333:0.1067	.	139	Q5T5N4	CF118_HUMAN	P	139;35	ENSP00000230301:S139P;ENSP00000439288:S35P	ENSP00000230301:S139P	S	-	1	0	C6orf118	165635386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.460000	0.06720	-1.718000	0.01383	-0.290000	0.09829	TCC		0.627	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		17	103	0	0	0	1	0	17	103					G	165715396	A	G	165715396	3	3	251	1	0	0	0	0	1	0	0	0	2323	246	9	3	1026	3	C6orf118	6	165715396	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	75150159	165715396	5399671	22	28713											
SDK1	221935	broad.mit.edu	37	chr7	4185446	4185446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggcagttcacagccaccGacctggccccggagtccgca	12	16	1	1	rs368279674		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	ENST00000404826.2	+	29	4460	c.4321G>A	c.(4321-4323)Gac>Aac	p.D1441N	SDK1_ENST00000389531.3_Missense_Mutation_p.D1441N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1441	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		CACAGCCACCGACCTGGCCCC	0.667																																						ENST00000404826.2																			0				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						c.(4321-4323)Gac>Aac		sidekick cell adhesion molecule 1		G	ASN/ASP	0,4406		0,0,2203	61	55	57		4321	4.1	0.9	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1441/2214	4185446	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4185446G>A	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.4321G>A	7.37:g.4185446G>A	ENSP00000385899:p.Asp1441Asn					SDK1_ENST00000389531.3_Missense_Mutation_p.D1441N	p.D1441N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4460	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1441			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4321G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	9.515	1.106884	0.20714	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57107	0.42;0.42	4.96	4.08	0.47627	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.233665	0.34652	N	0.003793	T	0.26376	0.0644	N	0.04373	-0.215	0.09310	N	1	B;P	0.47350	0.021;0.894	B;B	0.37091	0.005;0.241	T	0.08229	-1.0732	10	0.23891	T	0.37	.	12.6365	0.56687	0.0801:0.0:0.9199:0.0	.	1441;1441	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	N	1441	ENSP00000385899:D1441N;ENSP00000374182:D1441N	ENSP00000374182:D1441N	D	+	1	0	SDK1	4151972	0.266000	0.24112	0.928000	0.36995	0.529000	0.34654	2.200000	0.42724	1.099000	0.41499	-0.355000	0.07637	GAC		0.667	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		93	48	0	0	0	1	0	93	48					A	4185446	G	A	4185446	3	1	251	1	0	0	0	0	1	0	0	0	13968	1058	37	1	4435	1	SDK1	7	4185446	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		4185446	154953217	23	28714											
PKD1L1	168507	broad.mit.edu	37	chr7	47897211	47897211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcagcttgtacctgcccagGagcttggctccctggatatg	12	12	1	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	ENST00000289672.2	-	28	4632	c.4582C>T	c.(4582-4584)Cct>Tct	p.P1528S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1528	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						ACCTGCCCAGGAGCTTGGCTC	0.493																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(4582-4584)Cct>Tct		polycystic kidney disease 1 like 1							57	57	57					7																	47897211		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47897211G>A	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.4582C>T	7.37:g.47897211G>A	ENSP00000289672:p.Pro1528Ser						p.P1528S	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			28	4632	-			1528			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4582C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766760	0.31320	.	.	ENSG00000158683	ENST00000289672	T	0.19394	2.15	4.99	-0.507	0.11985	Egg jelly receptor, REJ-like (1);	34.185300	0.00843	N	0.001773	T	0.17619	0.0423	L	0.47716	1.5	0.09310	N	1	P	0.35272	0.493	B	0.26864	0.074	T	0.20505	-1.0273	10	0.21540	T	0.41	-6.3169	8.2154	0.31507	0.1591:0.5307:0.3102:0.0	.	1528	Q8TDX9	PK1L1_HUMAN	S	1528	ENSP00000289672:P1528S	ENSP00000289672:P1528S	P	-	1	0	PKD1L1	47863736	0.069000	0.21087	0.003000	0.11579	0.503000	0.33858	0.702000	0.25631	-0.444000	0.07170	0.563000	0.77884	CCT		0.493	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		14	15	0	0	0	1	0	14	15					A	47897211	G	A	47897211	3	1	251	1	0	0	0	0	1	0	0	0	11964	1174	41	2	4087	2	PKD1L1	7	47897211	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	43711765	47897211	111241452	24	28715											
PCLO	27445	broad.mit.edu	37	chr7	82580131	82580131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatagactgcagctccTccaactttttctgaaccatg	6	13	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	ENST00000333891.9	-	6	10110	c.9773A>G	c.(9772-9774)gAg>gGg	p.E3258G	PCLO_ENST00000423517.2_Missense_Mutation_p.E3258G|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						CTGCAGCTCCTCCAACTTTTT	0.453																																						ENST00000423517.2																			0				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						c.(9772-9774)gAg>gGg		piccolo presynaptic cytomatrix protein							111	105	107					7																	82580131		1908	4143	6051	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580131T>C	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.9773A>G	7.37:g.82580131T>C	ENSP00000334319:p.Glu3258Gly					PCLO_ENST00000333891.8_Missense_Mutation_p.E3258G	p.E3258G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10110	-			3189						Missense_Mutation	SNP	ENST00000333891.9	37	c.9773A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579776	0.28180	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20738	2.05;2.06	5.45	5.45	0.79879	.	.	.	.	.	T	0.45756	0.1358	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.45190	-0.9278	9	0.87932	D	0	.	15.1716	0.72878	0.0:0.0:0.0:1.0	.	3189;3258;3258	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	3189;3258;3258	ENSP00000334319:E3258G;ENSP00000388393:E3258G	ENSP00000334319:E3258G	E	-	2	0	PCLO	82418067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.073000	0.62155	0.379000	0.24179	GAG		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	136	0	0	0	1	0	10	136					C	82580131	T	C	82580131	3	2	251	1	0	0	0	0	1	0	0	0	11583	1551	54	3	5752	3	PCLO	7	82580131	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	34682920	82580131	76558532	25	28716											
ABCB1	5243	broad.mit.edu	37	chr7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaagccaatttgaatagcGaaactaaaaagagagaaaaa	8	5	1	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					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)	TTTGAATAGCGAAACTAAAAA	0.378																																						ENST00000265724.3																			0				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						c.(121-123)Cgc>Tgc		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						49	51	50					7																	87214993		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87214993G>A	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.121C>T	7.37:g.87214993G>A	ENSP00000265724:p.Arg41Cys					ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			5	538	-	Esophageal squamous(14;0.00164)		41					A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.121C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159578	0.38119	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177	D;D;T	0.84873	-1.91;-1.91;0.47	5.72	4.82	0.62117	ABC transporter, transmembrane domain, type 1 (1);	0.102456	0.64402	D	0.000002	D	0.83487	0.5265	N	0.08118	0	0.48696	D	0.999694	D;D	0.89917	0.984;1.0	P;D	0.97110	0.585;1.0	D	0.85909	0.1439	10	0.87932	D	0	-11.0394	12.2311	0.54488	0.0:0.0:0.8314:0.1686	.	41;41	B5AK60;P08183	.;MDR1_HUMAN	C	41	ENSP00000265724:R41C;ENSP00000444095:R41C;ENSP00000399419:R41C	ENSP00000265724:R41C	R	-	1	0	ABCB1	87052929	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.548000	0.45794	2.700000	0.92200	0.563000	0.77884	CGC		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		18	35	0	0	0	1	0	18	35					A	87214993	G	A	87214993	3	1	251	1	0	0	0	0	1	0	0	0	40	1058	37	1	3821	1	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4634862	87214993	71923670	26	28717											
DOCK4	9732	broad.mit.edu	37	chr7	111617325	111617325	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtgtctttcttccgaTgtcgatgttccatctgaatg	11	10	3	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	ENST00000437633.1	-	8	819	c.563A>T	c.(562-564)cAt>cTt	p.H188L	DOCK4_ENST00000428084.1_Missense_Mutation_p.H188L|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					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)				TTTCTTCCGATGTCGATGTTC	0.502																																						ENST00000428084.1																			0				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						c.(562-564)cAt>cTt		dedicator of cytokinesis 4							56	56	56					7																	111617325		1975	4168	6143	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617325T>A		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.563A>T	7.37:g.111617325T>A	ENSP00000404179:p.His188Leu					DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.H188L	p.H188L			Q8N1I0	DOCK4_HUMAN			8	835	-		Acute lymphoblastic leukemia(1;0.0441)	188					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.563A>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.76|12.76	2.034200|2.034200	0.35893|0.35893	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.02974|.	4.09;4.09|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.047818|.	0.85682|.	D|.	0.000000|.	T|T	0.67915|0.67915	0.2944|0.2944	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.29378|.	0.243;0.243;0.243;0.243|.	B;B;B;B|.	0.28465|.	0.057;0.09;0.09;0.09|.	T|T	0.66002|0.66002	-0.6031|-0.6031	10|5	0.22706|.	T|.	0.39|.	.|.	15.4841|15.4841	0.75551|0.75551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	188;188;188;188|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	L|F	176;188;188;176;187|176	ENSP00000410746:H188L;ENSP00000404179:H188L|.	ENSP00000345432:H176L|.	H|I	-|-	2|1	0|0	DOCK4|DOCK4	111404561|111404561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.698000|7.698000	0.84413|0.84413	2.045000|2.045000	0.60652|0.60652	0.460000|0.460000	0.39030|0.39030	CAT|ATC		0.502	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		10	5	0	0	0	1	0	10	5					A	111617325	T	A	111617325	3	1	251	1	0	0	0	0	1	0	0	0	4689	1464	51	5	5517	5	DOCK4	7	111617325	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24402332	111617325	47521338	27	28718											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-													aacagcagcagcagcagcaaCagcagcagcagcagcaacag							TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	70						7	70	---	---	---	---	-	114270018	CAG	-	114270016	7	5	251	1	0	1	0	1	0	0	0	0	6027	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HT-7604-01A-11D-2086-08	2652691	114270016	44868647	28	28719											
SLC20A2	6575	broad.mit.edu	37	chr8	42297083	42297083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagccttggcacctggtagCtctttaaatactggggactc	10	10	1	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	ENST00000342228.3	-	7	1188	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC20A2_ENST00000520179.1_Silent_p.E273E|SLC20A2_ENST00000520262.1_Silent_p.E273E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	273					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)			CACCTGGTAGCTCTTTAAATA	0.517																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(817-819)gaG>gaA		solute carrier family 20 (phosphate transporter), member 2							161	147	152					8																	42297083		2203	4300	6503	SO:0001819	synonymous_variant	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42297083C>T		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.819G>A	8.37:g.42297083C>T						SLC20A2_ENST00000520262.1_Silent_p.E273E|SLC20A2_ENST00000520179.1_Silent_p.E273E	p.E273E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	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)		7	1188	-	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)	273						Silent	SNP	ENST00000342228.3	37	c.819G>A	CCDS6132.1																																																																																				0.517	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			103	140	0	0	0	1	0	103	140					T	42297083	C	T	42297083	2	4	251	1	0	0	0	0	0	0	0	1	14439	796	28	2		2	SLC20A2	8	42297083	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		42297083	104066939	29	28720											
GATA3	2625	broad.mit.edu	37	chr10	8100386	8100386	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccccttctccaagacGtccatccaccacggctcccc	5	22	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	ENST00000346208.3	+	3	815	c.360G>A	c.(358-360)acG>acA	p.T120T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.T120T			P23771	GATA3_HUMAN	GATA binding protein 3	120					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.T120T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																															ENST00000379328.3				Rec	yes		10	10p15	2625	"F, N, S"	GATA binding protein 3	yes	"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"	E			breast		1	Substitution - coding silent(1)	p.T120T(1)	lung(1)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(358-360)acG>acA		GATA binding protein 3							69	84	79					10																	8100386		2203	4299	6502	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100386G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.360G>A	10.37:g.8100386G>A						GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.T120T	p.T120T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	928	+			120					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.360G>A	CCDS7083.1																																																																																				0.697	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		75	117	0	0	0	1	0	75	117					A	8100386	G	A	8100386	2	1	251	1	0	0	0	0	0	0	0	1	6255	1132	40	1		1	GATA3	10	8100386	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		8100386	127434361	30	28721											
FRMD4A	55691	broad.mit.edu	37	chr10	13698931	13698931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcgccctcgtcgccgccGccgccgcgccagctctcctt	11	21	1	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	ENST00000357447.2	-	22	3026	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	FRMD4A_ENST00000378503.1_Silent_p.G886G|FRMD4A_ENST00000358621.4_Silent_p.G871G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	886					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						CGTCGCCGCCGCCGCCGCGCC	0.716																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2656-2658)ggC>ggT		FERM domain containing 4A							7	8	8					10																	13698931		2141	4215	6356	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698931G>A	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.2658C>T	10.37:g.13698931G>A						FRMD4A_ENST00000358621.4_Silent_p.G871G|FRMD4A_ENST00000378503.1_Silent_p.G886G	p.G886G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	3026	-			886					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.2658C>T	CCDS7101.1																																																																																				0.716	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		4	8	0	0	0	1	0	4	8					A	13698931	G	A	13698931	2	1	251	1	0	0	0	0	0	0	0	1	6051	1074	38	1		1	FRMD4A	10	13698931	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5598545	13698931	121835816	31	28722											
OR4X2	119764	broad.mit.edu	37	chr11	48267032	48267032	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagcccctcagctacaccaCcatcatgaactggcaggtgt	8	15	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	ENST00000302329.3	+	1	425	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	126						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(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTACACCACCATCATGAAC	0.498																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(376-378)aCc>aGc		olfactory receptor, family 4, subfamily X, member 2							168	141	150					11																	48267032		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267032C>G	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.377C>G	11.37:g.48267032C>G	ENSP00000307751:p.Thr126Ser						p.T126S	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	425	+			126					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.377C>G	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	3.554	-0.091039	0.07053	.	.	ENSG00000172208	ENST00000302329	T	0.00554	6.64	5.37	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.640671	0.14516	N	0.314741	T	0.00412	0.0013	L	0.33137	0.985	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.47262	-0.9131	10	0.44086	T	0.13	.	2.5421	0.04728	0.1329:0.361:0.3435:0.1625	.	126	Q8NGF9	OR4X2_HUMAN	S	126	ENSP00000307751:T126S	ENSP00000307751:T126S	T	+	2	0	OR4X2	48223608	0.000000	0.05858	0.113000	0.21522	0.251000	0.25915	-0.309000	0.08145	-0.068000	0.12953	0.650000	0.86243	ACC		0.498	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		6	87	0	0	0	1	0	6	87					G	48267032	C	G	48267032	3	3	251	1	0	0	0	0	1	0	0	0	11085	507	18	4	379	4	OR4X2	11	48267032	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		48267032	86739484	32	28723											
CPSF7	79869	broad.mit.edu	37	chr11	61178544	61178544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctctcccgggaccgGctaggtgacctttcccggga	13	15	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	ENST00000394888.4	-	9	1459	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	CPSF7_ENST00000448745.1_Silent_p.S420S|CPSF7_ENST00000439958.3_Silent_p.S420S|CPSF7_ENST00000340437.4_Silent_p.S472S	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	429	Arg-rich.				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						CCCGGGACCGGCTAGGTGACC	0.502																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1414-1416)agC>agT		cleavage and polyadenylation specific factor 7, 59kDa							84	87	86					11																	61178544		2202	4299	6501	SO:0001819	synonymous_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61178544G>A		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.1287C>T	11.37:g.61178544G>A						CPSF7_ENST00000394888.4_Silent_p.S429S|CPSF7_ENST00000448745.1_Silent_p.S420S|CPSF7_ENST00000439958.3_Silent_p.S420S	p.S472S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			9	1496	-			429					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Silent	SNP	ENST00000394888.4	37	c.1416C>T	CCDS44619.1																																																																																				0.502	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		46	68	0	0	0	1	0	46	68					A	61178544	G	A	61178544	2	1	251	1	0	0	0	0	0	0	0	1	3830	1194	42	2		2	CPSF7	11	61178544	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	12911512	61178544	73827972	33	28724											
FGF3	2248	broad.mit.edu	37	chr11	69631175	69631175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgcccacctccactgcCgttatctccaaaatacctag	4	16	1	0	rs376992420		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	ENST00000334134.2	-	2	327	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	79					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|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)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.T79T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622																																						ENST00000334134.2																			1	Substitution - coding silent(1)	p.T79T(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(235-237)acG>acA		fibroblast growth factor 3		C		1,4399	2.1+/-5.4	0,1,2199	127	110	116		237	-9.7	0	11		116	0,8588		0,0,4294	no	coding-synonymous	FGF3	NM_005247.2		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		79/240	69631175	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69631175C>T		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.237G>A	11.37:g.69631175C>T							p.T79T	NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	327	-			79					Q0VG69	Silent	SNP	ENST00000334134.2	37	c.237G>A	CCDS8195.1																																																																																				0.622	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		4	95	0	0	0	1	0	4	95					T	69631175	C	T	69631175	2	4	251	1	0	0	0	0	0	0	0	1	5853	639	23	1		1	FGF3	11	69631175	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	8452631	69631175	65375341	34	28725											
TYR	7299	broad.mit.edu	37	chr11	88961080	88961080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atatgaatggaacaatgtccCaggtacagggatctgccaac	10	9	1	1	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	ENST00000263321.5	+	3	1628	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241). {ECO:0000305}.	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)	AACAATGTCCCAGGTACAGGG	0.413																																						ENST00000263321.5																			0				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	GRCh37	CM930719	TYR	M	rs61754389	c.(1126-1128)Cag>Gag		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						171	140	151					11																	88961080		2201	4298	6499	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88961080C>G	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.1126C>G	11.37:g.88961080C>G	ENSP00000263321:p.Gln376Glu						p.Q376E	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			3	1628	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	376	TMSQVQ -> HVPGT (in Ref. 2; AAA61241).				Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1126C>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882201	0.33255	.	.	ENSG00000077498	ENST00000263321	D	0.98747	-5.11	5.38	4.45	0.53987	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.197999	0.46145	D	0.000301	D	0.96244	0.8775	L	0.55990	1.75	0.30144	N	0.803687	B	0.09022	0.002	B	0.12156	0.007	D	0.91946	0.5567	9	.	.	.	.	5.2277	0.15404	0.1516:0.625:0.1463:0.0771	.	376	P14679	TYRO_HUMAN	E	376	ENSP00000263321:Q376E	.	Q	+	1	0	TYR	88600728	0.993000	0.37304	0.814000	0.32528	0.995000	0.86356	2.852000	0.48310	1.225000	0.43566	0.655000	0.94253	CAG		0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		15	103	0	0	0	1	0	15	103					G	88961080	C	G	88961080	3	3	251	1	0	0	0	0	1	0	0	0	16810	595	21	4	1136	4	TYR	11	88961080	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	19329905	88961080	46045436	35	28726											
C11orf65	160140	broad.mit.edu	37	chr11	108256655	108256655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcacctacctttgaagTtagccgaagagttgcttgta	8	8	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	ENST00000529391.1	-	7	788	c.779A>G	c.(778-780)aAc>aGc	p.N260S	C11orf65_ENST00000525729.1_Missense_Mutation_p.N211S|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.N260S			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	260										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)		ACCTTTGAAGTTAGCCGAAGA	0.333																																						ENST00000525729.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(631-633)aAc>aGc		chromosome 11 open reading frame 65							164	172	169					11																	108256655		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108256655T>C	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.779A>G	11.37:g.108256655T>C	ENSP00000436400:p.Asn260Ser					C11orf65_ENST00000529391.1_Missense_Mutation_p.N260S|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.N260S	p.N211S			Q8NCR3	CK065_HUMAN		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)	6	701	-		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)	260					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.632A>G	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	T	3.951	-0.012232	0.07727	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084	.	.	.	5.77	3.47	0.39725	.	0.379037	0.25619	N	0.029426	T	0.27489	0.0675	L	0.44542	1.39	0.09310	N	1	B;B	0.24823	0.112;0.047	B;B	0.20955	0.032;0.022	T	0.13469	-1.0508	9	0.16896	T	0.51	-6.7203	4.1091	0.10050	0.0:0.2307:0.1702:0.5991	.	211;260	B4DZU4;Q8NCR3	.;CK065_HUMAN	S	211;260;260	.	ENSP00000376799:N260S	N	-	2	0	C11orf65	107761865	0.725000	0.28048	0.035000	0.18076	0.027000	0.11550	1.754000	0.38369	0.995000	0.38917	0.528000	0.53228	AAC		0.333	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		13	197	0	0	0	1	0	13	197					C	108256655	T	C	108256655	3	2	251	1	0	0	0	0	1	0	0	0	1655	1725	60	3	170	3	C11orf65	11	108256655	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	19295575	108256655	26749861	36	28727											
NNMT	4837	broad.mit.edu	37	chr11	114182852	114182852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactcagagccagccactgGgggccgtccccttacccccg	11	18	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	ENST00000535401.1	+	5	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.G150R|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	150					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)	CCAGCCACTGGGGGCCGTCCC	0.602																																						ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(448-450)Ggg>Agg		nicotinamide N-methyltransferase	Niacin(DB00627)						74	74	74					11																	114182852		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114182852G>A	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.448G>A	11.37:g.114182852G>A	ENSP00000441434:p.Gly150Arg					NNMT_ENST00000299964.3_Missense_Mutation_p.G150R|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000541754.1_5'UTR	p.G150R			P40261	NNMT_HUMAN		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)	5	712	+		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)	150						Missense_Mutation	SNP	ENST00000535401.1	37	c.448G>A	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735199	0.15574	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.09538	2.97;2.97	5.11	4.2	0.49525	.	0.147157	0.44688	D	0.000421	T	0.14056	0.0340	M	0.83774	2.66	0.32908	D	0.514142	P	0.40515	0.719	B	0.37692	0.256	T	0.15464	-1.0436	10	0.22109	T	0.4	-11.2622	7.3739	0.26817	0.0914:0.169:0.7396:0.0	.	150	P40261	NNMT_HUMAN	R	150	ENSP00000441434:G150R;ENSP00000299964:G150R	ENSP00000299964:G150R	G	+	1	0	NNMT	113688062	0.996000	0.38824	0.036000	0.18154	0.065000	0.16274	2.590000	0.46154	1.134000	0.42165	0.655000	0.94253	GGG		0.602	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		82	71	0	0	0	1	0	82	71					A	114182852	G	A	114182852	3	1	251	1	0	0	0	0	1	0	0	0	10509	1232	43	2	458	2	NNMT	11	114182852	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5926197	114182852	20823664	37	28728											
H2AFX	3014	broad.mit.edu	37	chr11	118965808	118965809	+	Frame_Shift_Ins	INS	-	-	C													cctgggcgatcgtcacgccgINScccagcagcttgttgagctc							TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	ENST00000530167.1	-	1	368_369	c.296_297insG	c.(295-297)ggcfs	p.G99fs		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	99					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(295-297)gggfs	Chromatin Structure	H2A histone family, member X																																				SO:0001589	frameshift_variant	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965808_118965809insC	X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.297dupG	11.37:g.118965811_118965811dupC	ENSP00000434024:p.Gly99fs		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.G99fs	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	368_369	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	99					Q4ZGJ7|Q6IAS5	Frame_Shift_Ins	INS	ENST00000530167.1	37	c.296_297insG	CCDS8410.1																																																																																				0.693	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		73	191						73	191	---	---	---	---	C	118965809	-	C	118965808	7	5	251	1	0	1	1	0	0	0	0	0	6928	1074	38	0	138	0	H2AFX	11	118965808	Frame_Shift_Ins	INS	-	TCGA-HT-7604-01A-11D-2086-08	4782956	118965808	16040708	38	28729											
ITPR2	3709	broad.mit.edu	37	chr12	26985668	26985668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagccctccgcgtacaggGacacgatgtcccctatgtag	11	15	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	ENST00000381340.3	-	1	463	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ITPR2_ENST00000242737.5_Missense_Mutation_p.S16F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	16					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CGCGTACAGGGACACGATGTC	0.622																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(46-48)tCc>tTc		inositol 1,4,5-trisphosphate receptor, type 2							86	99	94					12																	26985668		2188	4299	6487	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26985668G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.47C>T	12.37:g.26985668G>A	ENSP00000370744:p.Ser16Phe					ITPR2_ENST00000242737.5_Missense_Mutation_p.S16F	p.S16F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			1	463	-	Colorectal(261;0.0847)		16					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.47C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901248	0.92035	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.98747	-5.11;-5.11	4.08	4.08	0.47627	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.229126	0.45867	D	0.000325	D	0.99263	0.9743	M	0.92219	3.285	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98753	1.0721	10	0.49607	T	0.09	.	15.6069	0.76679	0.0:0.0:1.0:0.0	.	16;16	Q14571-2;Q14571	.;ITPR2_HUMAN	F	16	ENSP00000370744:S16F;ENSP00000242737:S16F	ENSP00000242737:S16F	S	-	2	0	ITPR2	26876935	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.537000	0.90631	2.281000	0.76405	0.585000	0.79938	TCC		0.622	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		27	123	0	0	0	1	0	27	123					A	26985668	G	A	26985668	3	1	251	1	0	0	0	0	1	0	0	0	7921	1174	41	2	8286	2	ITPR2	12	26985668	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		26985668	106866227	39	28730											
C12orf63	144535	broad.mit.edu	37	chr12	97151344	97151344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagccaaagataaaaatttCaggatcaccattaacactta	5	8	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:97151344C>T	ENST00000524981.4	+	58	8041	c.8018C>T	c.(8017-8019)tCa>tTa	p.S2673L				Q96N23	CL055_HUMAN		0								p.S1098*(1)									ATAAAAATTTCAGGATCACCA	0.303																																						ENST00000524981.3																			1	Substitution - Nonsense(1)	p.S1098*(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3370-3372)tCa>tTa									50	50	50					12																	97151344		2201	4299	6500	SO:0001583	missense	0							g.chr12:97151344C>T																												ENST00000524981.4:c.8018C>T	12.37:g.97151344C>T	ENSP00000431759:p.Ser2673Leu						p.S1124L			Q6ZTY8	CL063_HUMAN			25	3371	+			1098						Missense_Mutation	SNP	ENST00000524981.4	37	c.3371C>T		.	.	.	.	.	.	.	.	.	.	C	16.43	3.121592	0.56613	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.43	3.53	0.40419	.	0.495218	0.17027	N	0.189897	T	0.45216	0.1331	L	0.54323	1.7	0.09310	N	1	P	0.47762	0.9	P	0.49999	0.628	T	0.33111	-0.9881	9	0.72032	D	0.01	-0.927	7.643	0.28305	0.1655:0.7492:0.0:0.0853	.	1098	Q6ZTY8	CL063_HUMAN	L	2673;1098	.	ENSP00000345466:S1098L	S	+	2	0	C12orf63	95675475	0.014000	0.17966	0.008000	0.14137	0.002000	0.02628	0.666000	0.25097	1.358000	0.45922	0.650000	0.86243	TCA		0.303	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			6	15	0	0	0	1	0	6	15					T	97151344	C	T	97151344	3	4	251	1	0	0	0	0	1	0	0	0	1706	838	29	2	3387	2	C12orf63	12	97151344	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	70165676	97151344	36700551	40	28731											
IGDCC4	57722	broad.mit.edu	37	chr15	65684524	65684524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgagccggacaggcccCacatcccaagcctggtctcc	9	17	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	ENST00000352385.2	-	11	2279	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	690	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACAGGCCCCACATCCCAAG	0.622																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2068-2070)gtG>gtA		immunoglobulin superfamily, DCC subclass, member 4							32	40	37					15																	65684524		2198	4295	6493	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65684524C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2070G>A	15.37:g.65684524C>T							p.V690V	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			11	2279	-			690			Fibronectin type-III 3.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.2070G>A	CCDS10206.1																																																																																				0.622	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		52	84	0	0	0	1	0	52	84					T	65684524	C	T	65684524	2	4	251	1	0	0	0	0	0	0	0	1	7569	581	21	2		2	IGDCC4	15	65684524	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		65684524	36846868	41	28732											
MGRN1	23295	broad.mit.edu	37	chr16	4732911	4732911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctcccccactgggtggCgcagagctggccctgcggga	15	17	0	1	rs368148078		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	ENST00000399577.5	+	14	1539	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	MGRN1_ENST00000415496.1_Silent_p.G461G|MGRN1_ENST00000588994.1_Silent_p.G460G|MGRN1_ENST00000262370.7_Silent_p.G482G|MGRN1_ENST00000586183.1_Silent_p.G460G	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	482					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						CACTGGGTGGCGCAGAGCTGG	0.701																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1444-1446)ggC>ggT		mahogunin ring finger 1, E3 ubiquitin protein ligase		C	,,,	1,3851		0,1,1925	24	26	25		1380,1446,1380,1446	-8.8	0	16		25	1,8239		0,1,4119	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MGRN1	NM_001142289.2,NM_001142290.2,NM_001142291.2,NM_015246.3	,,,	0,2,6044	TT,TC,CC		0.0121,0.026,0.0165	,,,	460/555,482/553,460/531,482/577	4732911	2,12090	1926	4120	6046	SO:0001819	synonymous_variant	0				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4732911C>T	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.1446C>T	16.37:g.4732911C>T						MGRN1_ENST00000415496.1_Silent_p.G461G|MGRN1_ENST00000586183.1_Silent_p.G460G|MGRN1_ENST00000588994.1_Silent_p.G460G|MGRN1_ENST00000262370.7_Silent_p.G482G	p.G482G	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			14	1539	+			482					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.1446C>T	CCDS45402.1																																																																																				0.701	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			12	13	0	0	0	1	0	12	13					T	4732911	C	T	4732911	2	4	251	1	0	0	0	0	0	0	0	1	9559	755	27	1		1	MGRN1	16	4732911	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		4732911	85621842	42	28733											
IRF8	3394	broad.mit.edu	37	chr16	85952180	85952180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctggtgcgcttcccGccggccgacgccatccccag	13	18	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	ENST00000268638.5	+	7	1181	c.759G>A	c.(757-759)ccG>ccA	p.P253P	IRF8_ENST00000562492.1_Silent_p.P49P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	253					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(757-759)ccG>ccA		interferon regulatory factor 8							14	19	17					16																	85952180		2154	4240	6394	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85952180G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.759G>A	16.37:g.85952180G>A						IRF8_ENST00000562492.1_Silent_p.P49P	p.P253P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			7	1181	+		Prostate(104;0.0771)	253					A0AV82	Silent	SNP	ENST00000268638.5	37	c.759G>A	CCDS10956.1																																																																																				0.741	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		14	5	0	0	0	1	0	14	5					A	85952180	G	A	85952180	2	1	251	1	0	0	0	0	0	0	0	1	7836	1074	38	1		1	IRF8	16	85952180	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	81219269	85952180	4402573	43	28734											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	12	7	0	0	rs587782664		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(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	GRCh37	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130	102	112					17																	7577570		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577570C>T	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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	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)				TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	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	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	51	0	0	0	1	0	35	51					T	7577570	C	T	7577570	3	4	251	1	0	0	0	0	1	0	0	0	16378	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		7577570	73617640	44	28735											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2	rs397516435		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	38	0	0	0	1	0	24	38					A	7578263	G	A	7578263	4	1	251	1	0	0	0	0	0	1	0	0	16378	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	693	7578263	73616947	45	28736											
CLUL1	27098	broad.mit.edu	37	chr18	618009	618009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcgggaacatgaagccGccactcttggtgtttattgt	11	9	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	ENST00000400606.2	+	2	154	c.9G>A	c.(7-9)ccG>ccA	p.P3P	CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Silent_p.P55P|CLUL1_ENST00000581619.1_Silent_p.P28P|CLUL1_ENST00000579494.1_Silent_p.P3P|CLUL1_ENST00000338387.7_Silent_p.P3P	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	3					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATGAAGCCGCCACTCTTGG	0.448																																						ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(82-84)ccG>ccA		clusterin-like 1 (retinal)							105	106	106					18																	618009		1978	4159	6137	SO:0001819	synonymous_variant	27098				cell death	extracellular region		g.chr18:618009G>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.9G>A	18.37:g.618009G>A						CLUL1_ENST00000400606.2_Silent_p.P3P|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Silent_p.P55P|CLUL1_ENST00000338387.7_Silent_p.P3P|CLUL1_ENST00000579494.1_Silent_p.P3P	p.P28P			Q15846	CLUL1_HUMAN			2	931	+			3					A0FDN7	Silent	SNP	ENST00000400606.2	37	c.84G>A	CCDS42405.1																																																																																				0.448	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			5	34	0	0	0	1	0	5	34					A	618009	G	A	618009	2	1	251	1	0	0	0	0	0	0	0	1	3570	1074	38	1		1	CLUL1	18	618009	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		618009	77459239	46	28737											
LIPG	9388	broad.mit.edu	37	chr18	47107968	47107968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctacaatgccaagaaaaTgaggaacaagaggaacagca	11	7	0	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	ENST00000261292.4	+	6	1255	c.977T>C	c.(976-978)aTg>aCg	p.M326T	LIPG_ENST00000580036.1_Missense_Mutation_p.M326T|LIPG_ENST00000577628.1_Missense_Mutation_p.M362T|LIPG_ENST00000427224.2_Missense_Mutation_p.M252T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	326	Heparin-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCAAGAAAATGAGGAACAAG	0.493																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(976-978)aTg>aCg		lipase, endothelial							117	119	118					18																	47107968		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47107968T>C	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.977T>C	18.37:g.47107968T>C	ENSP00000261292:p.Met326Thr					LIPG_ENST00000580036.1_Missense_Mutation_p.M326T|LIPG_ENST00000577628.1_Missense_Mutation_p.M362T|LIPG_ENST00000427224.2_Missense_Mutation_p.M252T	p.M326T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			6	1255	+			326			Heparin-binding (By similarity).		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.977T>C	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440357	0.25900	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.89939	-2.59;-2.59	5.79	-4.92	0.03075	Lipase, N-terminal (1);	0.390956	0.35646	N	0.003074	T	0.69178	0.3082	N	0.03983	-0.305	0.38604	D	0.950742	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.007;0.004;0.002	T	0.36696	-0.9737	10	0.40728	T	0.16	-16.1342	9.0137	0.36157	0.0899:0.3741:0.0:0.536	.	252;326;326	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	T	326;252	ENSP00000261292:M326T;ENSP00000387978:M252T	ENSP00000261292:M326T	M	+	2	0	LIPG	45361966	0.999000	0.42202	0.402000	0.26371	0.897000	0.52465	1.432000	0.34936	-0.917000	0.03813	-0.496000	0.04628	ATG		0.493	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		62	77	0	0	0	1	0	62	77					C	47107968	T	C	47107968	3	2	251	1	0	0	0	0	1	0	0	0	8823	1464	51	3	999	3	LIPG	18	47107968	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	46489959	47107968	30969280	47	28738											
NFATC1	4772	broad.mit.edu	37	chr18	77227575	77227575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtttcacctaccttccCgccaacggtaacgccatctt	6	17	2	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	ENST00000427363.2	+	8	2085	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	NFATC1_ENST00000586434.1_Silent_p.P682P|NFATC1_ENST00000592223.1_Silent_p.P682P|NFATC1_ENST00000318065.5_Silent_p.P682P|NFATC1_ENST00000397790.2_Silent_p.P223P|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000542384.1_Silent_p.P695P|NFATC1_ENST00000591814.1_Silent_p.P695P|NFATC1_ENST00000329101.4_Silent_p.P682P|NFATC1_ENST00000545796.1_Silent_p.P223P|NFATC1_ENST00000253506.5_Silent_p.P695P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	695					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCTACCTTCCCGCCAACGGTA	0.532																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2083-2085)ccC>ccT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							116	88	98					18																	77227575		2203	4300	6503	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77227575C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2085C>T	18.37:g.77227575C>T						NFATC1_ENST00000545796.1_Silent_p.P223P|NFATC1_ENST00000591814.1_Silent_p.P695P|NFATC1_ENST00000397790.2_Silent_p.P223P|NFATC1_ENST00000329101.4_Silent_p.P682P|NFATC1_ENST00000592223.1_Silent_p.P682P|NFATC1_ENST00000318065.5_Silent_p.P682P|NFATC1_ENST00000542384.1_Silent_p.P695P|NFATC1_ENST00000427363.2_Silent_p.P695P|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000586434.1_Silent_p.P682P	p.P695P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	8	2454	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	695					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2085C>T																																																																																					0.532	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		24	46	0	0	0	1	0	24	46					T	77227575	C	T	77227575	2	4	251	1	0	0	0	0	0	0	0	1	10361	639	23	1		1	NFATC1	18	77227575	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30119607	77227575	849673	48	28739											
MUC16	94025	broad.mit.edu	37	chr19	9062722	9062722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgctcacaagagtggTcatctctgagtgtgaaaatc	10	9	4	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	ENST00000397910.4	-	3	24927	c.24724A>G	c.(24724-24726)Acc>Gcc	p.T8242A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8244	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)				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						ACAAGAGTGGTCATCTCTGAG	0.498																																						ENST00000397910.4																			0				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						c.(24724-24726)Acc>Gcc		mucin 16, cell surface associated							84	83	83					19																	9062722		1987	4166	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062722T>C	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.24724A>G	19.37:g.9062722T>C	ENSP00000381008:p.Thr8242Ala						p.T8242A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24927	-			8244			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24724A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.114	0.206745	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	2.87	-4.54	0.03452	.	.	.	.	.	T	0.15609	0.0376	L	0.27053	0.805	.	.	.	B	0.28713	0.22	B	0.22753	0.041	T	0.17410	-1.0370	8	0.87932	D	0	.	3.1266	0.06409	0.3263:0.338:0.0:0.3357	.	8242	B5ME49	.	A	8242	ENSP00000381008:T8242A	ENSP00000381008:T8242A	T	-	1	0	MUC16	8923722	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.783000	0.04638	-1.278000	0.02408	-0.562000	0.04174	ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	25	0	0	0	1	0	26	25					C	9062722	T	C	9062722	3	2	251	1	0	0	0	0	1	0	0	0	9973	1667	58	3	19127	3	MUC16	19	9062722	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		9062722	50066261	49	28740											
HKR1	284459	broad.mit.edu	37	chr19	37838730	37838730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctggagcgaggggaagCgccctggagagaggagagaa	19	7	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	ENST00000324411.4	+	5	538	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591134.1_Missense_Mutation_p.A29V|HKR1_ENST00000589392.1_Missense_Mutation_p.A71V|HKR1_ENST00000541583.2_Missense_Mutation_p.A29V|HKR1_ENST00000392153.3_Missense_Mutation_p.A71V|HKR1_ENST00000592168.1_Missense_Mutation_p.A29V|HKR1_ENST00000591417.1_Missense_Mutation_p.A29V|HKR1_ENST00000591259.1_Missense_Mutation_p.A71V|HKR1_ENST00000586897.1_Missense_Mutation_p.A29V|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493																																						ENST00000324411.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(268-270)gCg>gTg		HKR1, GLI-Kruppel zinc finger family member							99	79	86					19																	37838730		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37838730C>T	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.269C>T	19.37:g.37838730C>T	ENSP00000315505:p.Ala90Val					HKR1_ENST00000589392.1_Missense_Mutation_p.A71V|HKR1_ENST00000541583.2_Missense_Mutation_p.A29V|HKR1_ENST00000591134.1_Missense_Mutation_p.A29V|HKR1_ENST00000591417.1_Missense_Mutation_p.A29V|HKR1_ENST00000591259.1_Missense_Mutation_p.A71V|HKR1_ENST00000586897.1_Missense_Mutation_p.A29V|HKR1_ENST00000592168.1_Missense_Mutation_p.A29V|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.A71V|HKR1_ENST00000591471.1_5'UTR	p.A90V	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	538	+			90			KRAB.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.269C>T	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934132	0.52866	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.07327	3.37;3.33;3.2	3.75	2.7	0.31948	Krueppel-associated box (2);	.	.	.	.	T	0.08846	0.0219	N	0.26042	0.785	0.09310	N	1	B;P;B;B;D	0.69078	0.005;0.875;0.012;0.005;0.997	B;B;B;B;P	0.50659	0.002;0.289;0.002;0.002;0.647	T	0.25676	-1.0125	9	0.72032	D	0.01	.	4.303	0.10933	0.6745:0.2072:0.1183:0.0	.	29;71;90;71;125	Q7Z6E1;P10072-2;P10072;B4DSY3;Q53EM3	.;.;HKR1_HUMAN;.;.	V	29;71;125;90;29	ENSP00000375994:A71V;ENSP00000315505:A90V;ENSP00000438261:A29V	ENSP00000315505:A90V	A	+	2	0	HKR1	42530570	1.000000	0.71417	0.318000	0.25279	0.387000	0.30353	0.952000	0.29149	0.440000	0.26502	-0.264000	0.10439	GCG		0.493	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		3	52	0	0	0	1	0	3	52					T	37838730	C	T	37838730	3	4	251	1	0	0	0	0	1	0	0	0	7194	768	27	1	279	1	HKR1	19	37838730	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	28776008	37838730	21290253	50	28741											
RYR1	6261	broad.mit.edu	37	chr19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctaaggcagagaaaaAggccacagtggatgctgaag	12	8	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	ENST00000359596.3	+	51	8177	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R|RYR1_ENST00000355481.4_Missense_Mutation_p.K2726R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2726	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)	GCAGAGAAAAAGGCCACAGTG	0.597																																						ENST00000355481.4																			0				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						c.(8176-8178)aAg>aGg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						61	57	58					19																	38995497		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38995497A>G	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.8177A>G	19.37:g.38995497A>G	ENSP00000352608:p.Lys2726Arg					RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R|RYR1_ENST00000359596.3_Missense_Mutation_p.K2726R	p.K2726R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		51	8308	+	all_cancers(60;7.91e-06)		2726			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8177A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651448	0.47362	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96913	-4.17;-4.17;-4.17	3.66	2.62	0.31277	.	0.000000	0.64402	U	0.000002	D	0.91543	0.7329	L	0.32530	0.975	0.33450	D	0.583509	B;B	0.33807	0.426;0.3	B;B	0.32090	0.14;0.066	D	0.90938	0.4795	10	0.45353	T	0.12	.	8.8866	0.35406	0.8318:0.0:0.0:0.1682	.	2726;2726	P21817-2;P21817	.;RYR1_HUMAN	R	2726	ENSP00000352608:K2726R;ENSP00000347667:K2726R;ENSP00000354254:K2726R	ENSP00000347667:K2726R	K	+	2	0	RYR1	43687337	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	7.195000	0.77798	0.732000	0.32470	0.402000	0.26972	AAG		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	51	0	0	0	1	0	3	51					G	38995497	A	G	38995497	3	3	251	1	0	0	0	0	1	0	0	0	13768	72	3	3	8379	3	RYR1	19	38995497	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	1156767	38995497	20133486	51	28742											
MYPOP	339344	broad.mit.edu	37	chr19	46394511	46394511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgggcagcccccttcCtggggagtgcaggagggccg	19	13	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	ENST00000322217.5	-	3	656	c.570G>A	c.(568-570)caG>caA	p.Q190Q		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	190	Pro-rich.					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)			large_intestine(2)|lung(1)|skin(1)	4						AGCCCCCTTCCTGGGGAGTGC	0.677																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(568-570)caG>caA		Myb-related transcription factor, partner of profilin							5	8	7					19																	46394511		2140	4253	6393	SO:0001819	synonymous_variant	339344					nucleus	DNA binding	g.chr19:46394511C>T	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.570G>A	19.37:g.46394511C>T							p.Q190Q	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			3	656	-			190			Pro-rich.			Silent	SNP	ENST00000322217.5	37	c.570G>A	CCDS33055.1																																																																																				0.677	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		6	0	0	0	0	1	0	6	0					T	46394511	C	T	46394511	2	4	251	1	0	0	0	0	0	0	0	1	10099	680	24	2		2	MYPOP	19	46394511	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	7399014	46394511	12734472	52	28743											
ZC3H4	23211	broad.mit.edu	37	chr19	47593321	47593321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtcctcctcctcgtcGccctcatattccccatactg	4	20	1	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	ENST00000253048.5	-	5	655	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	206							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(616-618)ggC>ggT		zinc finger CCCH-type containing 4							144	146	145					19																	47593321		2165	4251	6416	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47593321G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.618C>T	19.37:g.47593321G>A						ZC3H4_ENST00000594019.1_5'UTR	p.G206G	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	5	655	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	206					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.618C>T	CCDS42582.1																																																																																				0.577	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			39	72	0	0	0	1	0	39	72					A	47593321	G	A	47593321	2	1	251	1	0	0	0	0	0	0	0	1	17567	1074	38	1		1	ZC3H4	19	47593321	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	1198810	47593321	11535662	53	28744											
CCDC155	147872	broad.mit.edu	37	chr19	49898432	49898432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcccccaggatgcacGcctccaaacattggccaaca	9	17	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	ENST00000447857.3	+	4	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	73						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(217-219)cGc>cAc		coiled-coil domain containing 155							56	60	59					19																	49898432		2023	4172	6195	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49898432G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.218G>A	19.37:g.49898432G>A	ENSP00000404220:p.Arg73His						p.R73H	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			4	423	+			73					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.218G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426726	0.62733	.	.	ENSG00000161609	ENST00000447857	T	0.63255	-0.03	4.52	3.46	0.39613	EF-hand-like domain (1);	0.277348	0.33457	N	0.004886	T	0.71005	0.3289	M	0.73962	2.25	0.24176	N	0.995604	D;D;D	0.76494	0.997;0.997;0.999	P;P;P	0.60236	0.855;0.855;0.871	T	0.60352	-0.7280	10	0.34782	T	0.22	-6.9641	9.1061	0.36698	0.1112:0.0:0.8888:0.0	.	73;73;153	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	H	73	ENSP00000404220:R73H	ENSP00000404220:R73H	R	+	2	0	CCDC155	54590244	0.887000	0.30362	0.946000	0.38457	0.978000	0.69477	2.282000	0.43461	2.246000	0.74042	0.462000	0.41574	CGC		0.622	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		5	47	0	0	0	1	0	5	47					A	49898432	G	A	49898432	3	1	251	1	0	0	0	0	1	0	0	0	2788	1087	38	1	228	1	CCDC155	19	49898432	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2305111	49898432	9230551	54	28745											
C20orf194	25943	broad.mit.edu	37	chr20	3356865	3356865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcagatttctccaaTgtgccacataaggtaagaga	10	7	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	ENST00000252032.9	-	4	435	c.368A>G	c.(367-369)cAt>cGt	p.H123R		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	123										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTTCTCCAATGTGCCACATA	0.368																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(367-369)cAt>cGt		chromosome 20 open reading frame 194							145	132	136					20																	3356865		1869	4118	5987	SO:0001583	missense	25943							g.chr20:3356865T>C	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.368A>G	20.37:g.3356865T>C	ENSP00000252032:p.His123Arg						p.H123R	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			4	435	-			123					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.368A>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845281	0.51164	.	.	ENSG00000088854	ENST00000252032	T	0.20200	2.09	5.49	4.31	0.51392	.	0.302156	0.37095	N	0.002242	T	0.20170	0.0485	M	0.68952	2.095	0.80722	D	1	B	0.18610	0.029	B	0.16289	0.015	T	0.18681	-1.0329	10	0.59425	D	0.04	.	4.4153	0.11454	0.2554:0.0863:0.0:0.6583	.	123	Q5TEA3	CT194_HUMAN	R	123	ENSP00000252032:H123R	ENSP00000252032:H123R	H	-	2	0	C20orf194	3304865	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.091000	0.30915	2.212000	0.71576	0.459000	0.35465	CAT		0.368	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		35	27	0	0	0	1	0	35	27					C	3356865	T	C	3356865	3	2	251	1	0	0	0	0	1	0	0	0	2099	1464	51	3	3301	3	C20orf194	20	3356865	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		3356865	59668655	55	28746											
PCK1	5105	broad.mit.edu	37	chr20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctccaggtcatttaaggGccatcaacccagaaaatggc	8	12	3	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	ENST00000319441.4	+	7	1137	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_ENST00000543666.1_Missense_Mutation_p.A8T|PCK1_ENST00000535860.1_Missense_Mutation_p.A193T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	325					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.A325T(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448																																						ENST00000319441.4																			1	Substitution - Missense(1)	p.A325T(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(973-975)Gcc>Acc		phosphoenolpyruvate carboxykinase 1 (soluble)							59	58	58					20																	56139236		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139236G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.973G>A	20.37:g.56139236G>A	ENSP00000319814:p.Ala325Thr					PCK1_ENST00000543666.1_Missense_Mutation_p.A8T|PCK1_ENST00000535860.1_Missense_Mutation_p.A193T	p.A325T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1137	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		325					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.973G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404074	0.83230	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.21191	2.02;2.02;2.02	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80719	-0.1257	10	0.87932	D	0	-21.2458	19.6793	0.95956	0.0:0.0:1.0:0.0	.	8;325	B4DT64;P35558	.;PCKGC_HUMAN	T	7;325;8;193	ENSP00000319814:A325T;ENSP00000445767:A8T;ENSP00000444342:A193T	ENSP00000319814:A325T	A	+	1	0	PCK1	55572642	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	9.282000	0.95840	2.713000	0.92767	0.655000	0.94253	GCC		0.448	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			9	40	0	0	0	1	0	9	40					A	56139236	G	A	56139236	3	1	251	1	0	0	0	0	1	0	0	0	11581	1203	42	2	995	2	PCK1	20	56139236	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	52782371	56139236	6886284	56	28747											
CDH4	1002	broad.mit.edu	37	chr20	60498709	60498709	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgccccccggcaccgtGctgaccacgttttcagctgt	12	16	1	1	rs565867923		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:60498709G>T	ENST00000360469.5	+	10	1663	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	CDH4_ENST00000543233.1_Silent_p.V451V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4. {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)			CCGGCACCGTGCTGACCACGT	0.622																																						ENST00000360469.5																			0				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						c.(1573-1575)gtG>gtT		cadherin 4, type 1, R-cadherin (retinal)							65	55	58					20																	60498709		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60498709G>T	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.1575G>T	20.37:g.60498709G>T						CDH4_ENST00000543233.1_Silent_p.V451V	p.V525V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		10	1663	+			525			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1575G>T	CCDS13488.1																																																																																				0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		3	51	1	0	1	1	1	3	51					T	60498709	G	T	60498709	2	4	251	1	0	0	0	0	0	0	0	1	3112	1306	46	4		4	CDH4	20	60498709	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4359473	60498709	2526811	57	28748											
ATRX	546	broad.mit.edu	37	chrX	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-													tgttgttccattttaattacTtttttcttaaagtctgaagg							TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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						TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3001-3003)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						68	73	71					X																	76937745		2200	4275	6475	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937745delT	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.3003delA	X.37:g.76937745delT	ENSP00000362441:p.Lys1001fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs	p.K1001fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3217	-			1001					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3003delA	CCDS14434.1																																																																																				0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		52	8						52	8	---	---	---	---	-	76937745	T	-	76937745	7	5	251	1	0	1	0	1	0	0	0	0	1208	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-HT-7604-01A-11D-2086-08		76937745	78332815	58	28749											
XIAP	331	broad.mit.edu	37	chrX	123034427	123034427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaagaaaataatggaggAaaaaattcagatatctggga	9	3	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	ENST00000371199.3	+	6	1483	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Missense_Mutation_p.E395G|XIAP_ENST00000434753.3_Missense_Mutation_p.E395G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	395					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATAATGGAGGAAAAAATTCAG	0.368									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(1183-1185)gAa>gGa		X-linked inhibitor of apoptosis							68	64	65					X																	123034427		2203	4299	6502	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123034427A>G	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1184A>G	X.37:g.123034427A>G	ENSP00000360242:p.Glu395Gly					XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Missense_Mutation_p.E395G|XIAP_ENST00000434753.3_Missense_Mutation_p.E395G	p.E395G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			6	1483	+			395					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.1184A>G	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	a	12.73	2.025853	0.35701	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.29142	1.58;1.58;1.58	4.7	3.54	0.40534	.	0.378728	0.26013	N	0.026878	T	0.27559	0.0677	M	0.63428	1.95	0.31561	N	0.657534	B	0.06786	0.001	B	0.06405	0.002	T	0.20739	-1.0266	10	0.37606	T	0.19	-9.7697	6.4892	0.22105	0.8018:0.0:0.1982:0.0	.	395	P98170	XIAP_HUMAN	G	395	ENSP00000395230:E395G;ENSP00000360242:E395G;ENSP00000347858:E395G	ENSP00000347858:E395G	E	+	2	0	XIAP	122862108	1.000000	0.71417	0.895000	0.35142	0.961000	0.63080	2.706000	0.47135	0.660000	0.30964	0.350000	0.21858	GAA		0.368	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		31	5	0	0	0	1	0	31	5					G	123034427	A	G	123034427	3	3	251	1	0	0	0	0	1	0	0	0	17425	246	9	3	1202	3	XIAP	23	123034427	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	46096682	123034427	32236133	59	28750											
CLIC4	25932	broad.mit.edu	37	chr1	25140630	25140630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggacccacccaccAtttataactttcaacagtga	6	15	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	ENST00000374379.4	+	3	425	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	76	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(226-228)ccA>ccG		chloride intracellular channel 4							78	83	81					1																	25140630		2203	4300	6503	SO:0001819	synonymous_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25140630A>G	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.228A>G	1.37:g.25140630A>G						CLIC4_ENST00000497755.1_3'UTR	p.P76P	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	3	425	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	76			Required for insertion into the membrane (Probable).		Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	c.228A>G	CCDS256.1																																																																																				0.398	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		12	69	0	0	0	1	0	12	69					G	25140630	A	G	25140630	2	3	252	1	0	0	0	0	0	0	0	1	3528	204	8	3		3	CLIC4	1	25140630	Silent	SNP	A	TCGA-HT-7605-01A-11D-2086-08		25140630	224109991	1	28751											
PTPRU	10076	broad.mit.edu	37	chr1	29585123	29585123	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtgcagttcagctaCttcctgtacagccgggacgg	12	12	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	ENST00000345512.3	+	3	441	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	104	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)		AGTTCAGCTACTTCCTGTACA	0.602																																						ENST00000323874.8																			0				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						c.(310-312)taC>taA		protein tyrosine phosphatase, receptor type, U							155	172	166					1																	29585123		2203	4300	6503	SO:0001587	stop_gained	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585123C>A	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.312C>A	1.37:g.29585123C>A	ENSP00000334941:p.Tyr104*					PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.Y104*	p.Y104*			Q92729	PTPRU_HUMAN		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)	3	422	+		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)	104			MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	c.312C>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	38	6.717362	0.97784	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	5.72	3.87	0.44632	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5628	0.50788	0.0:0.8564:0.0:0.1436	.	.	.	.	X	104	.	.	Y	+	3	2	PTPRU	29457710	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.094000	0.71431	0.786000	0.33708	-0.229000	0.12294	TAC		0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			19	190	1	0	1.9806e-07	1	2.25858e-07	19	190					A	29585123	C	A	29585123	4	1	252	1	0	0	0	0	0	1	0	0	12813	576	20	4	322	4	PTPRU	1	29585123	Nonsense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	4444493	29585123	219665498	2	28752											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107313	249107313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcacagccgagtcactcGctggtgctcccgctcacctc	10	17	2	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:249107313G>A	ENST00000366472.5	-	6	1815	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	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)			CGAGTCACTCGCTGGTGCTCC	0.632																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(586-588)Cga>Tga		SH3-binding domain protein 5-like							42	39	40					1																	249107313		2203	4300	6503	SO:0001587	stop_gained	80851							g.chr1:249107313G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.586C>T	1.37:g.249107313G>A	ENSP00000355428:p.Arg196*					SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*|SH3BP5L_ENST00000475978.1_5'UTR	p.R196*	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1815	-	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)	196					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Nonsense_Mutation	SNP	ENST00000366472.5	37	c.586C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025639	0.93518	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.4	3.41	0.39046	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1863	11.7553	0.51872	0.0:0.1798:0.8202:0.0	.	.	.	.	X	196;164	.	ENSP00000355428:R196X	R	-	1	2	SH3BP5L	247073936	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.752000	0.55172	2.156000	0.67533	0.467000	0.42956	CGA		0.632	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		3	24	0	0	0	1	0	3	24					A	249107313	G	A	249107313	4	1	252	1	0	0	0	0	0	1	0	0	14248	1095	38	1	603	1	SH3BP5L	1	249107313	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	219522190	249107313	143308	3	28753											
GEMIN6	79833	broad.mit.edu	37	chr2	39008705	39008705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcagcatgtctgtgaccGgaattatgggacatgctgtg	14	7	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	ENST00000281950.3	+	3	291	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	59					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443																																						ENST00000281950.2																			0				kidney(1)|large_intestine(3)|pancreas(1)	5						c.(175-177)Gga>Aga		gem (nuclear organelle) associated protein 6							109	106	107					2																	39008705		2203	4300	6503	SO:0001583	missense	79833				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr2:39008705G>A	AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.175G>A	2.37:g.39008705G>A	ENSP00000281950:p.Gly59Arg					GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	p.G59R	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN			3	291	+		all_hematologic(82;0.21)	59					B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Missense_Mutation	SNP	ENST00000281950.3	37	c.175G>A	CCDS1799.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852784	0.91355	.	.	ENSG00000152147	ENST00000281950	T	0.48201	0.82	5.52	5.52	0.82312	.	0.110731	0.64402	D	0.000013	T	0.59609	0.2206	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.52457	-0.8573	10	0.28530	T	0.3	-23.4025	19.0196	0.92908	0.0:0.0:1.0:0.0	.	59	Q8WXD5	GEMI6_HUMAN	R	59	ENSP00000281950:G59R	ENSP00000281950:G59R	G	+	1	0	GEMIN6	38862209	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	5.998000	0.70653	2.604000	0.88044	0.591000	0.81541	GGA		0.443	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250441.3			35	100	0	0	0	1	0	35	100					A	39008705	G	A	39008705	3	1	252	1	0	0	0	0	1	0	0	0	6332	1117	39	1	181	1	GEMIN6	2	39008705	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39008705	204190668	4	28754											
ACTG2	72	broad.mit.edu	37	chr2	74146597	74146597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaagtactcagtctggatCgggggctctatcctggcctc	13	12	3	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:74146597C>T	ENST00000409624.1	+	10	1669	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ACTG2_ENST00000345517.3_Silent_p.I342I|ACTG2_ENST00000409731.3_Silent_p.I299I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	342					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						CAGTCTGGATCGGGGGCTCTA	0.527																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(1024-1026)atC>atT		actin, gamma 2, smooth muscle, enteric							80	83	82					2																	74146597		2203	4300	6503	SO:0001819	synonymous_variant	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74146597C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.1026C>T	2.37:g.74146597C>T						ACTG2_ENST00000409731.3_Silent_p.I299I|ACTG2_ENST00000345517.3_Silent_p.I342I	p.I342I			P63267	ACTH_HUMAN			10	1669	+			342					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Silent	SNP	ENST00000409624.1	37	c.1026C>T	CCDS1930.1																																																																																				0.527	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		10	85	0	0	0	1	0	10	85					T	74146597	C	T	74146597	2	4	252	1	0	0	0	0	0	0	0	1	197	874	31	1		1	ACTG2	2	74146597	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08	35137892	74146597	169052776	5	28755											
KDM3A	55818	broad.mit.edu	37	chr2	86697513	86697513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactcacctgtgttttgccGcttctttcacttcaggaggt	10	11	4	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:86697513G>A	ENST00000409556.1	+	12	2071	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	569					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTGTTTTGCCGCTTCTTTCAC	0.453																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1705-1707)cGc>cAc		lysine (K)-specific demethylase 3A							110	103	106					2																	86697513		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86697513G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1706G>A	2.37:g.86697513G>A	ENSP00000386660:p.Arg569His					KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H	p.R569H			Q9Y4C1	KDM3A_HUMAN			12	2071	+			569					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.1706G>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415431	0.96092	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.82181	0.4981	M	0.85197	2.74	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82464	-0.0444	10	0.49607	T	0.09	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	517;569	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	569;569;569;569;517	ENSP00000386660:R569H;ENSP00000323659:R569H;ENSP00000386516:R569H;ENSP00000438324:R517H	ENSP00000323659:R569H	R	+	2	0	KDM3A	86551024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.778000	0.95560	0.655000	0.94253	CGC		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		4	99	0	0	0	1	0	4	99					A	86697513	G	A	86697513	3	1	252	1	0	0	0	0	1	0	0	0	8126	1087	38	1	1744	1	KDM3A	2	86697513	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	12550916	86697513	156501860	6	28756											
UXS1	80146	broad.mit.edu	37	chr2	106746145	106746145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacccaacatgtttaatgTcccaatcgtattggtcttta	5	10	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	ENST00000409501.3	-	7	604	c.547A>G	c.(547-549)Aca>Gca	p.T183A	UXS1_ENST00000283148.7_Missense_Mutation_p.T188A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000428048.2_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	183					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTTTAATGTCCCAATCGTA	0.378																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(562-564)Aca>Gca		UDP-glucuronate decarboxylase 1							115	108	110					2																	106746145		1862	4105	5967	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106746145T>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.547A>G	2.37:g.106746145T>C	ENSP00000387019:p.Thr183Ala					UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000409501.3_Missense_Mutation_p.T183A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000428048.2_Intron	p.T188A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			7	659	-			183					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.562A>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498140	0.64186	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000416298;ENST00000444193;ENST00000457835;ENST00000436241	D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.85	5.85	0.93711	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	D	0.93028	0.6446	10	0.16420	T	0.52	-8.9369	16.2303	0.82332	0.0:0.0:0.0:1.0	.	188;183	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	A	188;126;183;15;15;15;126;15	ENSP00000283148:T188A;ENSP00000438265:T126A;ENSP00000387019:T183A;ENSP00000387096:T15A;ENSP00000403612:T15A;ENSP00000404468:T15A;ENSP00000399316:T126A;ENSP00000397049:T15A	ENSP00000283148:T188A	T	-	1	0	UXS1	106112577	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.583000	0.82559	2.233000	0.73108	0.533000	0.62120	ACA		0.378	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		12	20	0	0	0	1	0	12	20					C	106746145	T	C	106746145	3	2	252	1	0	0	0	0	1	0	0	0	17106	1667	58	3	751	3	UXS1	2	106746145	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	20048632	106746145	136453228	7	28757											
NCKAP5	344148	broad.mit.edu	37	chr2	133721292	133721292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaattgcttcatttcttaCctctagagctttcaatctct	3	10	5	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	ENST00000409261.1	-	8	953		c.e8+1		NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site|NCKAP5_ENST00000409213.1_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5									p.?(2)		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						TCATTTCTTACCTCTAGAGCT	0.368																																						ENST00000409261.1																			2	Unknown(2)	p.?(2)	lung(2)	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						c.e8+1		NCK-associated protein 5							134	129	130					2																	133721292		1836	4099	5935	SO:0001630	splice_region_variant	344148						protein binding	g.chr2:133721292C>T	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.579+1G>A	2.37:g.133721292C>T						NCKAP5_ENST00000409213.1_Splice_Site|NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site		NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			8	953	-								B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Splice_Site	SNP	ENST00000409261.1	37		CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443110	0.63067	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0473	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5	133437762	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.976000	0.63785	2.826000	0.97356	0.655000	0.94253	.		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	Intron	14	46	0	0	0	1	0	14	46					T	133721292	C	T	133721292	5	4	252	1	0	0	0	0	0	0	1	0	10223	521	18	2	5201	2	NCKAP5	2	133721292	Splice_Site	SNP	C	TCGA-HT-7605-01A-11D-2086-08	26975147	133721292	109478081	8	28758											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	58	0	0	0	1	0	29	58					T	209113112	C	T	209113112	3	4	252	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	75391820	209113112	34086261	9	28759											
MARCH4	57574	broad.mit.edu	37	chr2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-													ggccgccaaaccggggggctGggggtcgccgtgcatgggca							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:217234779delG	ENST00000273067.4	-	1	1971	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	69	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(205-207)agfs		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							4	5	5					2																	217234779		2099	4083	6182	SO:0001589	frameshift_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234779delG	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.205delC	2.37:g.217234779delG	ENSP00000273067:p.Gln69fs						p.Q69fs	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1971	-		Renal(323;0.0854)	69			Pro-rich.		Q4KMN7|Q86WR8	Frame_Shift_Del	DEL	ENST00000273067.4	37	c.205delC	CCDS33376.1																																																																																				0.701	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		2	4						2	4	---	---	---	---	-	217234779	G	-	217234779	7	5	252	1	0	1	0	1	0	0	0	0	9303	1357	47	0	1043	0	MARCH4	2	217234779	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08	8121667	217234779	25964594	10	28760											
PBRM1	55193	broad.mit.edu	37	chr3	52598217	52598217	+	Frame_Shift_Del	DEL	G	G	-													ttcagttggcctgcaggagaGgaagtccttgaatgacaaca							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:52598217delG	ENST00000296302.7	-	23	3725	c.3724delC	c.(3724-3726)ctcfs	p.L1242fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.L1210fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs			Q86U86	PB1_HUMAN	polybromo 1	1242	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCAGGAGAGGAAGTCCTTG	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3628-3630)tcfs		polybromo 1							87	85	86					3																	52598217		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598217delG	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3724delC	3.37:g.52598217delG	ENSP00000296302:p.Leu1242fs					PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|SMIM4_ENST00000476842.1_Intron	p.L1210fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3630	-			1242		Missing (found in a case of clear cell renal carcinoma; somatic mutation).	BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3628delC																																																																																					0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		7	98						7	98	---	---	---	---	-	52598217	G	-	52598217	7	5	252	1	0	1	0	1	0	0	0	0	11491	1000	35	0	1208	0	PBRM1	3	52598217	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08		52598217	145424213	11	28761											
ZBTB20	26137	broad.mit.edu	37	chr3	114069165	114069166	+	Frame_Shift_Del	DEL	AA	AA	-													cgtagttctgtttggcggtgAaagtcttgttgcagagagtg							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:114069165_114069166delAA	ENST00000474710.1	-	4	1937_1938	c.1759_1760delTT	c.(1759-1761)ttcfs	p.F587fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	587						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTTGGCGGTGAAAGTCTTGTTG	0.599																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1540-1542)cfs		zinc finger and BTB domain containing 20																																				SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069165_114069166delAA	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1759_1760delTT	3.37:g.114069165_114069166delAA	ENSP00000419153:p.Phe587fs					ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.F587fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs	p.F514fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2361_2362	-			587					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1540_1541delTT	CCDS54626.1																																																																																				0.599	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		16	261						16	261	---	---	---	---	-	114069166	AA	-	114069165	7	5	252	1	0	1	0	1	0	0	0	0	17526	246	9	0	473	0	ZBTB20	3	114069165	Frame_Shift_Del	DEL	AA	TCGA-HT-7605-01A-11D-2086-08	61470948	114069165	83953265	12	28762											
C3orf15	89876	broad.mit.edu	37	chr3	119465994	119465994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatagtactataagctcCtacctagaagacataatact	4	11	0	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:119465994C>T	ENST00000273390.5	+	15	2012	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	481						mitochondrion (GO:0005739)											CTATAAGCTCCTACCTAGAAG	0.373																																						ENST00000273390.5																			0											c.(1933-1935)tcC>tcT		MYCBP-associated, testis expressed 1							108	105	106					3																	119465994		2203	4300	6503	SO:0001819	synonymous_variant	89876							g.chr3:119465994C>T	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.1935C>T	3.37:g.119465994C>T						RP11-169N13.4_ENST00000489428.2_RNA	p.S645S	NM_033364.3	NP_203528.2					15	2012	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1935C>T	CCDS2994.1																																																																																				0.373	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		12	88	0	0	0	1	0	12	88					T	119465994	C	T	119465994	2	4	252	1	0	0	0	0	0	0	0	1	2209	668	24	2		2	C3orf15	3	119465994	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08	5396829	119465994	78556436	13	28763											
FBXO40	51725	broad.mit.edu	37	chr3	121340407	121340407	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacctgctctgtggtgCcaccttccacatgtgcaaag	9	15	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:121340407C>G	ENST00000338040.4	+	3	545	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	44					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTGTGGTGCCACCTTCCAC	0.572																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(130-132)gCc>gGc		F-box protein 40							96	85	89					3																	121340407		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340407C>G	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.131C>G	3.37:g.121340407C>G	ENSP00000337510:p.Ala44Gly						p.A44G	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	545	+			44					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.131C>G	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836251	0.71373	.	.	ENSG00000163833	ENST00000338040	T	0.40476	1.03	5.58	5.58	0.84498	.	0.050714	0.85682	D	0.000000	T	0.68531	0.3011	M	0.83603	2.65	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.72877	-0.4159	10	0.87932	D	0	-12.7349	17.0656	0.86558	0.0:1.0:0.0:0.0	.	44	Q9UH90	FBX40_HUMAN	G	44	ENSP00000337510:A44G	ENSP00000337510:A44G	A	+	2	0	FBXO40	122823097	1.000000	0.71417	0.416000	0.26546	0.898000	0.52572	7.792000	0.85828	2.644000	0.89710	0.655000	0.94253	GCC		0.572	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		9	109	0	0	0	1	0	9	109					G	121340407	C	G	121340407	3	3	252	1	0	0	0	0	1	0	0	0	5749	739	26	4	137	4	FBXO40	3	121340407	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	1874413	121340407	76682023	14	28764											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	7	9	4	4	rs121913274		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:178936092A>G	ENST00000263967.3	+	10	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		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.E545A(96)|p.E545G(78)|p.E545V(4)		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)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		178	Substitution - Missense(178)	p.E545A(96)|p.E545G(78)|p.E545V(4)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)	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						c.(1633-1635)gAg>gGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61	61	61					3																	178936092		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936092A>G		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.1634A>G	3.37:g.178936092A>G	ENSP00000263967:p.Glu545Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545G	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1791	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; 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).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1634A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704887	0.88924	.	.	ENSG00000121879	ENST00000263967	T	0.64438	-0.1	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	0.77046	0.4073	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.76675	-0.2872	10	0.41790	T	0.15	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	G	545	ENSP00000263967:E545G	ENSP00000263967:E545G	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	49	0	0	0	1	0	4	49					G	178936092	A	G	178936092	3	3	252	1	0	0	0	0	1	0	0	0	11913	304	11	3	1668	3	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	57595685	178936092	19086338	15	28765											
KIAA0226	9711	broad.mit.edu	37	chr3	197408183	197408183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgggcattctcgtggcaGcactggcagaagtacttgcc	12	11	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:197408183G>A	ENST00000296343.5	-	16	2246	c.2247C>T	c.(2245-2247)tgC>tgT	p.C749C	KIAA0226_ENST00000273582.5_Silent_p.C704C|KIAA0226_ENST00000389665.5_Silent_p.C774C	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	749					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)		TCTCGTGGCAGCACTGGCAGA	0.527																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				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						c.(2110-2112)tgC>tgT		KIAA0226							85	84	84					3																	197408183		2005	4186	6191	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197408183G>A	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.2247C>T	3.37:g.197408183G>A						KIAA0226_ENST00000389665.5_Silent_p.C774C|KIAA0226_ENST00000296343.5_Silent_p.C749C	p.C704C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	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)	17	2657	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		749					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.2112C>T	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364573	0.24684	.	.	ENSG00000145016	ENST00000415452	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	T	0.69735	0.3144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69083	-0.5239	4	.	.	.	.	14.0351	0.64640	0.0733:0.0:0.9267:0.0	.	.	.	.	V	533	.	.	A	-	2	0	KIAA0226	198892580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.271000	0.43364	1.441000	0.47550	0.650000	0.86243	GCT		0.527	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		4	149	0	0	0	1	0	4	149					A	197408183	G	A	197408183	2	1	252	1	0	0	0	0	0	0	0	1	8162	963	34	2		2	KIAA0226	3	197408183	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	18472091	197408183	614247	16	28766											
FIP1L1	81608	broad.mit.edu	37	chr4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	AT	-													tcgagaaaaagaagaacgacAtagagaaagacgacacaggg							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	ENST00000337488.6	+	17	1777_1778	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	528	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAAGAACGACATAGAGAAAGAC	0.381			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1582-1584)cfs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54324903_54324904delAT	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1583_1584delAT	4.37:g.54324903_54324904delAT	ENSP00000336752:p.His528fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs	p.H528fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		17	1777_1778	+			528			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1583_1584delAT	CCDS3491.1																																																																																				0.381	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		11	41						11	41	---	---	---	---	-	54324904	AT	-	54324903	7	5	252	1	0	1	0	1	0	0	0	0	5896	217	8	0	1680	0	FIP1L1	4	54324903	Frame_Shift_Del	DEL	AT	TCGA-HT-7605-01A-11D-2086-08		54324903	136829373	17	28767											
AGPAT9	84803	broad.mit.edu	37	chr4	84509367	84509367	+	Frame_Shift_Del	DEL	A	A	-													tttctatttccttcagcctcAaaaactggctgagtgaactg					rs140308062	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:84509367delA	ENST00000395226.2	+	6	777	c.559delA	c.(559-561)aaafs	p.K187fs	AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	187					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)				CTTCAGCCTCAAAAACTGGCT	0.413																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(559-561)aafs		1-acylglycerol-3-phosphate O-acyltransferase 9							130	120	123					4																	84509367		2203	4300	6503	SO:0001589	frameshift_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84509367delA	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.559delA	4.37:g.84509367delA	ENSP00000378651:p.Lys187fs					AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs	p.K187fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			6	777	+		Hepatocellular(203;0.114)	187					Q68CJ4|Q6GPI6|Q96NA3	Frame_Shift_Del	DEL	ENST00000395226.2	37	c.559delA	CCDS3606.1																																																																																				0.413	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		7	155						7	155	---	---	---	---	-	84509367	A	-	84509367	7	5	252	1	0	1	0	1	0	0	0	0	392	131	5	0	577	0	AGPAT9	4	84509367	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08	30184464	84509367	106644909	18	28768											
KIAA0922	23240	broad.mit.edu	37	chr4	154542876	154542876	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttgtgtgcagtgactTtgagaggtctgagctgagca	14	6	1	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	ENST00000409663.3	+	28	3783	c.3731T>A	c.(3730-3732)tTt>tAt	p.F1244Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409959.3_Missense_Mutation_p.F1245Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1244						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3733-3735)tTt>tAt		KIAA0922							145	136	139					4																	154542876		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542876T>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3731T>A	4.37:g.154542876T>A	ENSP00000386574:p.Phe1244Tyr					KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.F1244Y	p.F1245Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			28	3783	+	all_hematologic(180;0.093)	Renal(120;0.118)	1244					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3734T>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901841	0.17760	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.18502	2.48;2.21;2.48;2.21	5.13	3.91	0.45181	.	1.296400	0.04557	N	0.390999	T	0.13372	0.0324	L	0.33485	1.01	0.09310	N	1	B;B;B	0.28082	0.2;0.005;0.003	B;B;B	0.28465	0.09;0.011;0.005	T	0.32903	-0.9889	10	0.02654	T	1	-2.2201	8.3297	0.32178	0.1308:0.0:0.1368:0.7324	.	1161;1245;1244	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1244;1161;1245;1022	ENSP00000386574:F1244Y;ENSP00000409663:F1161Y;ENSP00000386787:F1245Y;ENSP00000240487:F1022Y	ENSP00000240487:F1022Y	F	+	2	0	KIAA0922	154762326	0.993000	0.37304	0.001000	0.08648	0.581000	0.36288	2.599000	0.46231	0.754000	0.32968	0.533000	0.62120	TTT		0.433	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		8	54	0	0	0	1	0	8	54					A	154542876	T	A	154542876	3	1	252	1	0	0	0	0	1	0	0	0	8201	1841	64	5	3844	5	KIAA0922	4	154542876	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	70033509	154542876	36611400	19	28769											
DCHS2	54798	broad.mit.edu	37	chr4	155163900	155163900	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaagcctgggcatcccTttatctgtggcttggacaat	10	9	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:155163900T>C	ENST00000357232.4	-	22	5600	c.5601A>G	c.(5599-5601)aaA>aaG	p.K1867K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1867	Cadherin 16. {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)		TGGGCATCCCTTTATCTGTGG	0.378																																						ENST00000357232.3																			0				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						c.(5599-5601)aaA>aaG		dachsous cadherin-related 2							103	98	100					4																	155163900		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155163900T>C	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.5601A>G	4.37:g.155163900T>C							p.K1867K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	22	5600	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1867			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5601A>G	CCDS3785.1																																																																																				0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	64	0	0	0	1	0	3	64					C	155163900	T	C	155163900	2	2	252	1	0	0	0	0	0	0	0	1	4288	1606	56	3		3	DCHS2	4	155163900	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	621024	155163900	35990376	20	28770											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		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;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		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)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		9	115						9	115	---	---	---	---	-	88144700	A	-	88144700	7	5	252	1	0	1	0	1	0	0	0	0	2341	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08		88144700	82970367	21	28771											
RALA	5898	broad.mit.edu	37	chr7	39726381	39726381	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagttcatgtacgatgagGtaagtgctaattttataatg	9	4	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:39726381G>T	ENST00000005257.2	+	2	494		c.e2+1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTACGATGAGGTAAGTGCTAA	0.418																																						ENST00000005257.2																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						c.e2+1		v-ral simian leukemia viral oncogene homolog A (ras related)							101	90	94					7																	39726381		2203	4300	6503	SO:0001630	splice_region_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39726381G>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"RAS-like protein A", "Ras-related protein Ral-A", "Ras family small GTP binding protein RALA", "ras related GTP binding protein A"	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.114+1G>T	7.37:g.39726381G>T						RALA_ENST00000468201.1_Intron		NM_005402.3	NP_005393.2	P11233	RALA_HUMAN			2	494	+								A4D1W3	Splice_Site	SNP	ENST00000005257.2	37		CCDS5460.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556040	0.86231	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALA	39692906	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.789000	0.95967	0.655000	0.94253	.		0.418	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	Intron	4	45	1	0	0.00024832	1	0.000264603	4	45					T	39726381	G	T	39726381	5	4	252	1	0	0	0	0	0	0	1	0	13010	1275	44	4	117	4	RALA	7	39726381	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39726381	119412282	22	28772											
MUC17	140453	broad.mit.edu	37	chr7	100685718	100685718	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacttctacccaagtcagttCatctcctgtgactcctgaag	6	14	4	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:100685718C>T	ENST00000306151.4	+	3	11085	c.11021C>T	c.(11020-11022)tCa>tTa	p.S3674L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3674	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)					CAAGTCAGTTCATCTCCTGTG	0.522																																						ENST00000306151.4																			0				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						c.(11020-11022)tCa>tTa		mucin 17, cell surface associated							204	185	191					7																	100685718		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685718C>T	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.11021C>T	7.37:g.100685718C>T	ENSP00000302716:p.Ser3674Leu						p.S3674L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11085	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3674			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11021C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.833	0.522831	0.13066	.	.	ENSG00000169876	ENST00000306151	T	0.02067	4.47	1.78	0.843	0.18935	.	.	.	.	.	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	D	0.72982	0.979	T	0.48317	-0.9046	9	0.33940	T	0.23	.	4.3661	0.11225	0.0:0.6177:0.0:0.3823	.	3674	Q685J3	MUC17_HUMAN	L	3674	ENSP00000302716:S3674L	ENSP00000302716:S3674L	S	+	2	0	MUC17	100472438	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.069000	0.11542	0.085000	0.17107	-1.133000	0.01973	TCA		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	253	0	0	0	1	0	5	253					T	100685718	C	T	100685718	3	4	252	1	0	0	0	0	1	0	0	0	9974	838	29	2	11031	2	MUC17	7	100685718	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	60959337	100685718	58452945	23	28773											
GIMAP5	55340	broad.mit.edu	37	chr7	150439641	150439641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggtgaaagaggtcttTgggacaggggccatgagaca	17	5	1	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:150439641T>C	ENST00000358647.3	+	3	781	c.414T>C	c.(412-414)ttT>ttC	p.F138F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	138	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGGTCTTTGGGACAGGGG	0.582																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(412-414)ttT>ttC		GTPase, IMAP family member 5							88	85	86					7																	150439641		2203	4300	6503	SO:0001819	synonymous_variant	55340							g.chr7:150439641T>C	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"GTPases, IMAP"	18005	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 5"	608086	"immune associated nucleotide 4 like 1 (mouse)"	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.414T>C	7.37:g.150439641T>C						GIMAP5_ENST00000479556.1_3'UTR	p.F138F	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	781	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Silent	SNP	ENST00000358647.3	37	c.414T>C	CCDS5907.1																																																																																				0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		15	114	0	0	0	1	0	15	114					C	150439641	T	C	150439641	2	2	252	1	0	0	0	0	0	0	0	1	6382	1809	63	3		3	GIMAP5	7	150439641	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	49753923	150439641	8699022	24	28774											
PIWIL2	55124	broad.mit.edu	37	chr8	22146091	22146091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaaggaaaacagacagtGctgaaatcagcattaagatt	9	6	2	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:22146091G>A	ENST00000454009.2	+	8	1407	c.898G>A	c.(898-900)Gct>Act	p.A300T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A300T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	300					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)		AACAGACAGTGCTGAAATCAG	0.383																																						ENST00000356766.6																			0				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						c.(898-900)Gct>Act		piwi-like RNA-mediated gene silencing 2							126	111	116					8																	22146091		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22146091G>A	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.898G>A	8.37:g.22146091G>A	ENSP00000406956:p.Ala300Thr					PIWIL2_ENST00000454009.2_Missense_Mutation_p.A300T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T	p.A300T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	8	1046	+			300					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.898G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262637	0.23051	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04156	3.69;3.7;3.69	5.88	3.76	0.43208	Argonaute/Dicer protein, PAZ (1);	0.579667	0.18012	N	0.154519	T	0.02083	0.0065	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.47262	-0.9131	10	0.11182	T	0.66	-13.7265	8.2072	0.31463	0.1646:0.1363:0.6991:0.0	.	300;300	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	300	ENSP00000349208:A300T;ENSP00000428267:A300T;ENSP00000406956:A300T	ENSP00000349208:A300T	A	+	1	0	PIWIL2	22202036	0.123000	0.22298	0.804000	0.32291	0.929000	0.56500	0.820000	0.27323	1.483000	0.48342	0.585000	0.79938	GCT		0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	69	0	0	0	1	0	4	69					A	22146091	G	A	22146091	3	1	252	1	0	0	0	0	1	0	0	0	11958	1319	46	2	924	2	PIWIL2	8	22146091	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		22146091	124217931	25	28775											
KCNU1	157855	broad.mit.edu	37	chr8	36642081	36642081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgatctggagatcTgttaaaaaatggcaaatcat	9	6	4	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:36642081T>C	ENST00000399881.3	+	1	190	c.153T>C	c.(151-153)tcT>tcC	p.S51S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	51					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)		TCTGGAGATCTGTTAAAAAAT	0.438																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(151-153)tcT>tcC		potassium channel, subfamily U, member 1							129	116	120					8																	36642081		1912	4133	6045	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36642081T>C	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.153T>C	8.37:g.36642081T>C							p.S51S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	190	+			51						Silent	SNP	ENST00000399881.3	37	c.153T>C	CCDS55220.1																																																																																				0.438	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	33	0	0	0	1	0	4	33					C	36642081	T	C	36642081	2	2	252	1	0	0	0	0	0	0	0	1	8093	1567	55	3		3	KCNU1	8	36642081	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	14495990	36642081	109721941	26	28776											
PXDNL	137902	broad.mit.edu	37	chr8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacacgcggggctggagcGcgcgaagagcatgcagggcg	20	11	0	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					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)	p.R864C(1)|p.R63C(1)		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)				GGGCTGGAGCGCGCGAAGAGC	0.662																																						ENST00000356297.4																			2	Substitution - Missense(2)	p.R864C(1)|p.R63C(1)	large_intestine(2)	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						c.(2590-2592)Cgc>Tgc		peroxidasin homolog (Drosophila)-like							22	26	25					8																	52321594		2026	4158	6184	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321594G>A		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.2590C>T	8.37:g.52321594G>A	ENSP00000348645:p.Arg864Cys					PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	p.R864C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2690	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	864					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2590C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336473	0.24253	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84800	-1.9;-1.9	3.31	0.304	0.15796	.	0.272281	0.26156	N	0.026002	D	0.94128	0.8117	H	0.99286	4.5	0.44123	D	0.996903	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	4.8892	0.13719	0.22:0.1755:0.6045:0.0	.	864	A1KZ92	PXDNL_HUMAN	C	864	ENSP00000348645:R864C;ENSP00000444865:R864C	ENSP00000348645:R864C	R	-	1	0	PXDNL	52484147	1.000000	0.71417	0.029000	0.17559	0.003000	0.03518	2.981000	0.49329	-0.220000	0.09988	-0.898000	0.02899	CGC		0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	51	0	0	0	1	0	3	51					A	52321594	G	A	52321594	3	1	252	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1829	1	PXDNL	8	52321594	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	15679513	52321594	94042428	27	28777											
CHD7	55636	broad.mit.edu	37	chr8	61735226	61735226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attccgaacctggacagagtTgaacgtggttgtgtatcatg	12	7	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:61735226T>G	ENST00000423902.2	+	12	3601	c.3122T>G	c.(3121-3123)tTg>tGg	p.L1041W	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1041	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)			TGGACAGAGTTGAACGTGGTT	0.433																																						ENST00000423902.2																			0				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						c.(3121-3123)tTg>tGg		chromodomain helicase DNA binding protein 7							189	184	185					8																	61735226		1887	4112	5999	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735226T>G	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.3122T>G	8.37:g.61735226T>G	ENSP00000392028:p.Leu1041Trp					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W	p.L1041W	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3601	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1041			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3122T>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605143	0.87157	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.95272	-3.66;-3.66	5.53	5.53	0.82687	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000006	D	0.97955	0.9327	M	0.94101	3.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.993	D	0.99146	1.0857	10	0.87932	D	0	-12.0916	15.9509	0.79835	0.0:0.0:0.0:1.0	.	1041;1041	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	W	1041	ENSP00000392028:L1041W;ENSP00000436027:L1041W	ENSP00000307304:L1041W	L	+	2	0	CHD7	61897780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	TTG		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	201	0	0	0	1	0	6	201					G	61735226	T	G	61735226	3	3	252	1	0	0	0	0	1	0	0	0	3330	1821	63	5	3164	5	CHD7	8	61735226	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	9413632	61735226	84628796	28	28778											
ASAP1	50807	broad.mit.edu	37	chr8	131370312	131370312	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgtgcagccgcgtggtgAagctggacgtggtgggcgag	20	7	0	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	ENST00000518721.1	-	3	364	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_ENST00000357668.1_Missense_Mutation_p.F46C|ASAP1_ENST00000520625.1_5'Flank	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	46					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						CCGCGTGGTGAAGCTGGACGT	0.677																																						ENST00000357668.1																			0				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						c.(136-138)tTc>tGc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							104	75	85					8																	131370312		2202	4300	6502	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131370312A>C	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.137T>G	8.37:g.131370312A>C	ENSP00000429900:p.Phe46Cys					ASAP1_ENST00000518721.1_Missense_Mutation_p.F46C	p.F46C			Q9ULH1	ASAP1_HUMAN			2	164	-			46					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.137T>G	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824489	0.90955	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000521426	T;T	0.26810	1.71;1.71	4.34	4.34	0.51931	.	0.358348	0.28393	U	0.015509	T	0.54935	0.1889	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63475	-0.6629	10	0.87932	D	0	.	12.6811	0.56922	1.0:0.0:0.0:0.0	.	46;46	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	C	46;46;46;39	ENSP00000350297:F46C;ENSP00000429900:F46C	ENSP00000344591:F46C	F	-	2	0	ASAP1	131439494	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.378000	0.90144	1.586000	0.49944	0.260000	0.18958	TTC		0.677	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		7	27	0	0	0	1	0	7	27					C	131370312	A	C	131370312	3	2	252	1	0	0	0	0	1	0	0	0	1010	246	9	5	3364	5	ASAP1	8	131370312	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	69635086	131370312	14993710	29	28779											
NOL6	65083	broad.mit.edu	37	chr9	33467861	33467861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcgactcagtggaCggagactggaggggtacaaa	16	9	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	ENST00000379471.2	-	12	1517	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R425H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	477					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)		ACTCAGTGGACGGAGACTGGA	0.602																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1429-1431)cGt>cAt		nucleolar protein 6 (RNA-associated)							23	25	24					9																	33467861		2203	4298	6501	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467861C>T	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.1430G>A	9.37:g.33467861C>T	ENSP00000368784:p.Arg477His					NOL6_ENST00000455041.2_Missense_Mutation_p.R425H|NOL6_ENST00000464829.1_Intron	p.R477H			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	12	1517	-			477					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1430G>A		.	.	.	.	.	.	.	.	.	.	C	0.141	-1.102154	0.01828	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.62	-0.943	0.10395	.	0.792260	0.12748	N	0.442387	T	0.30039	0.0752	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.005;0.005;0.005;0.006	B;B;B;B;B	0.09377	0.004;0.001;0.002;0.002;0.002	T	0.22034	-1.0228	10	0.33940	T	0.23	.	10.8552	0.46794	0.0:0.6061:0.0:0.3939	.	425;474;477;477;477	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	H	477;477;477;33;477;425	ENSP00000313978:R477H;ENSP00000297990:R477H;ENSP00000368784:R477H;ENSP00000395915:R425H	ENSP00000297990:R477H	R	-	2	0	NOL6	33457861	0.507000	0.26146	0.981000	0.43875	0.281000	0.26958	0.316000	0.19469	-0.071000	0.12886	-1.332000	0.01269	CGT		0.602	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		4	47	0	0	0	1	0	4	47					T	33467861	C	T	33467861	3	4	252	1	0	0	0	0	1	0	0	0	10525	536	19	1	2070	1	NOL6	9	33467861	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		33467861	107745570	30	28780											
CORO2A	7464	broad.mit.edu	37	chr9	100897226	100897226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcagctgcttggggatgctCcagatcttaatctggcaggg	14	9	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	ENST00000343933.5	-	4	587	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	110					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(328-330)tgG>tgT		coronin, actin binding protein, 2A							75	65	68					9																	100897226		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897226C>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.330G>T	9.37:g.100897226C>A	ENSP00000343746:p.Trp110Cys					CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			4	587	-		Acute lymphoblastic leukemia(62;0.0559)	110					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.330G>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277856	0.80692	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	D;D	0.83506	-1.73;-1.73	5.37	5.37	0.77165	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	0.95364	0.8495	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97103	0.9799	10	0.87932	D	0	-16.6329	18.0377	0.89309	0.0:1.0:0.0:0.0	.	110	Q92828	COR2A_HUMAN	C	110	ENSP00000343746:W110C;ENSP00000364218:W110C	ENSP00000343746:W110C	W	-	3	0	CORO2A	99937047	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.263000	0.78421	2.802000	0.96397	0.650000	0.86243	TGG		0.632	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		22	52	1	0	7.88262e-20	1	9.14947e-20	22	52					A	100897226	C	A	100897226	3	1	252	1	0	0	0	0	1	0	0	0	3756	856	30	4	1283	4	CORO2A	9	100897226	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	67429365	100897226	40316205	31	28781											
LAMC3	10319	broad.mit.edu	37	chr9	133917071	133917071	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggacacctgtgacccccGcagtgggcgctgcccctgca	12	18	0	1	rs143849259		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:133917071G>T	ENST00000361069.4	+	7	1464	c.1331G>T	c.(1330-1332)cGc>cTc	p.R444L	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	444	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCCCCGCAGTGGGCGC	0.547																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1330-1332)cGc>cTc		laminin, gamma 3							51	46	47					9																	133917071		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133917071G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1331G>T	9.37:g.133917071G>T	ENSP00000354360:p.Arg444Leu					LAMC3_ENST00000480883.1_3'UTR	p.R444L	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	7	1464	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	444			Laminin EGF-like 4.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1331G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089730	0.36855	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.61392	0.11	4.97	-2.77	0.05877	EGF-like, laminin (3);	1.001280	0.08053	N	0.996869	T	0.40719	0.1128	N	0.25380	0.74	0.09310	N	0.999991	B	0.14805	0.011	B	0.19666	0.026	T	0.28004	-1.0057	10	0.30078	T	0.28	.	8.6405	0.33974	0.6478:0.1253:0.227:0.0	.	444	Q9Y6N6	LAMC3_HUMAN	L	444	ENSP00000354360:R444L	ENSP00000325873:R444L	R	+	2	0	LAMC3	132906892	0.000000	0.05858	0.910000	0.35882	0.975000	0.68041	-0.017000	0.12590	-0.688000	0.05155	-0.362000	0.07510	CGC		0.547	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	62	1	0	1	1	1	3	62					T	133917071	G	T	133917071	3	4	252	1	0	0	0	0	1	0	0	0	8616	1087	38	4	1357	4	LAMC3	9	133917071	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	33019845	133917071	7296360	32	28782											
POLL	27343	broad.mit.edu	37	chr10	103343337	103343337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagctccaagacaggcacGctctcactgatatggtccag	10	12	1	3	rs148400497		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000463515.1_5'Flank|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		21195	0.0		0.0	False		,,,				2504	0.0					ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(991-993)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda		G	,,	2,4404	4.2+/-10.8	0,2,2201	116	94	101		993,717,993	-7	0.1	10	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLL	NM_001174084.1,NM_001174085.1,NM_013274.3	,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,	331/576,239/484,331/576	103343337	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103343337G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"DNA polymerases"	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.993C>T	10.37:g.103343337G>A						DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|DPCD_ENST00000416979.2_Intron	p.S331S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	6	1487	-		Colorectal(252;0.234)	331					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.993C>T	CCDS7513.1																																																																																				0.562	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		6	78	0	0	0	1	0	6	78					A	103343337	G	A	103343337	2	1	252	1	0	0	0	0	0	0	0	1	12205	1078	38	1		1	POLL	10	103343337	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08		103343337	32191410	33	28783											
RIC3	79608	broad.mit.edu	37	chr11	8148216	8148216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttaccttcccagtcCtccatgtaaggggcctcctc	7	16	0	0	rs186081938	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:8148216C>A	ENST00000309737.6	-	5	659	c.660G>T	c.(658-660)gaG>gaT	p.E220D	RIC3_ENST00000425599.2_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000396677.2_Missense_Mutation_p.E58D			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	220					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CTTCCCAGTCCTCCATGTAAG	0.403																																						ENST00000396677.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(172-174)gaG>gaT		RIC3 acetylcholine receptor chaperone							107	100	102					11																	8148216		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8148216C>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.660G>T	11.37:g.8148216C>A	ENSP00000308820:p.Glu220Asp					RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D|RIC3_ENST00000309737.6_Missense_Mutation_p.E220D|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D	p.E58D			Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	2	173	-			220					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.174G>T	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924736	0.52653	.	.	ENSG00000166405	ENST00000396677;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000531450	T;T;T;T	0.35421	1.33;1.33;1.34;1.31	5.48	1.39	0.22231	.	0.000000	0.64402	D	0.000001	T	0.49932	0.1586	M	0.73598	2.24	0.44067	D	0.996815	D;D;D;D	0.69078	0.978;0.99;0.99;0.997	P;P;P;P	0.61800	0.811;0.737;0.737;0.894	T	0.42816	-0.9429	10	0.23891	T	0.37	.	10.1037	0.42519	0.0:0.4758:0.0:0.5242	.	248;220;219;58	B7Z1U4;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;RIC3_HUMAN;.;.	D	58;219;220;248;171;248	ENSP00000344904:E219D;ENSP00000308820:E220D;ENSP00000443871:E171D;ENSP00000431658:E248D	ENSP00000308820:E220D	E	-	3	2	RIC3	8104792	0.008000	0.16893	0.999000	0.59377	0.995000	0.86356	-1.457000	0.02374	0.058000	0.16222	-0.140000	0.14226	GAG		0.403	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		3	65	1	0	1	1	1	3	65					A	8148216	C	A	8148216	3	1	252	1	0	0	0	0	1	0	0	0	13354	680	24	4	457	4	RIC3	11	8148216	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8148216	126858300	34	28784											
FAT3	120114	broad.mit.edu	37	chr11	92523169	92523169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattctctcagccgaattacGatgtgacaatttccgaggat	8	9	2	1	rs558307095	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:92523169G>A	ENST00000298047.6	+	7	4413	c.4396G>A	c.(4396-4398)Gat>Aat	p.D1466N	FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1466	Cadherin 14. {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)				GCCGAATTACGATGTGACAAT	0.408										TCGA Ovarian(4;0.039)			G|||	2	0.000399361	0.0	0.0	5008	,	,		20359	0.0		0.002	False		,,,				2504	0.0					ENST00000298047.6																			0				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						c.(4396-4398)Gat>Aat		FAT atypical cadherin 3							136	128	130					11																	92523169		1949	4158	6107	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523169G>A	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.4396G>A	11.37:g.92523169G>A	ENSP00000298047:p.Asp1466Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N	p.D1466N			Q8TDW7	FAT3_HUMAN			7	4413	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1466			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4396G>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.944819	0.73672	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01725	4.67;4.67;4.67	6.17	6.17	0.99709	.	.	.	.	.	T	0.01222	0.0040	N	0.04203	-0.255	0.80722	D	1	B	0.33494	0.414	B	0.25759	0.063	T	0.71101	-0.4690	9	0.51188	T	0.08	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	1466	Q8TDW7-3	.	N	1466;1466;1316	ENSP00000298047:D1466N;ENSP00000387040:D1466N;ENSP00000432586:D1316N	ENSP00000298047:D1466N	D	+	1	0	FAT3	92162817	1.000000	0.71417	0.967000	0.41034	0.866000	0.49608	7.983000	0.88140	2.941000	0.99782	0.655000	0.94253	GAT		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	148	0	0	0	1	0	4	148					A	92523169	G	A	92523169	3	1	252	1	0	0	0	0	1	0	0	0	5691	1058	37	1	4422	1	FAT3	11	92523169	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	84374953	92523169	42483347	35	28785											
VWA5A	4013	broad.mit.edu	37	chr11	123989697	123989697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtttccctggctgctGgacacaagtttgatcgggac	12	11	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:123989697G>A	ENST00000456829.2	+	7	912	c.661G>A	c.(661-663)Gga>Aga	p.G221R	VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R|VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R|VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	221										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						CCTGGCTGCTGGACACAAGTT	0.522																																						ENST00000456829.2																			0				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						c.(661-663)Gga>Aga		von Willebrand factor A domain containing 5A							120	93	102					11																	123989697		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123989697G>A	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.661G>A	11.37:g.123989697G>A	ENSP00000407726:p.Gly221Arg					VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R|VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R|VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R	p.G221R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			7	912	+			221					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.661G>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793329	0.90453	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.26223	3.54;1.75;3.54;2.1;2.1;2.08	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	T	0.48479	-0.9032	10	0.31617	T	0.26	-16.5748	17.3833	0.87410	0.0:0.0:1.0:0.0	.	237;221	B4DHS6;O00534	.;VMA5A_HUMAN	R	221;221;221;221;221;221;221;237	ENSP00000407726:G221R;ENSP00000353485:G221R;ENSP00000376504:G221R;ENSP00000355070:G221R;ENSP00000404683:G221R;ENSP00000376501:G237R	ENSP00000353485:G221R	G	+	1	0	VWA5A	123494907	1.000000	0.71417	0.988000	0.46212	0.815000	0.46073	6.320000	0.72876	2.705000	0.92388	0.650000	0.86243	GGA		0.522	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		3	52	0	0	0	1	0	3	52					A	123989697	G	A	123989697	3	1	252	1	0	0	0	0	1	0	0	0	17239	1349	47	2	679	2	VWA5A	11	123989697	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	31466528	123989697	11016819	36	28786											
GPR162	27239	broad.mit.edu	37	chr12	6933475	6933475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcaggcactgcatgcCgtcatgggcatctggatggt	14	9	2	1	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	ENST00000311268.3	+	2	1198	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(409-411)gcC>gcT		G protein-coupled receptor 162							91	77	82					12																	6933475		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933475C>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.411C>T	12.37:g.6933475C>T						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	p.A137A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1198	+			137					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.411C>T	CCDS8563.1																																																																																				0.617	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		28	51	0	0	0	1	0	28	51					T	6933475	C	T	6933475	2	4	252	1	0	0	0	0	0	0	0	1	6666	639	23	1		1	GPR162	12	6933475	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		6933475	126918420	37	28787											
ATN1	1822	broad.mit.edu	37	chr12	7048208	7048208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctgagaggcagcacGcagaaagggtggcggccctg	18	10	0	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:7048208G>A	ENST00000356654.4	+	7	3319	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1028					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)	p.A1028S(1)		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						GAGGCAGCACGCAGAAAGGGT	0.662																																						ENST00000356654.4																			1	Substitution - Missense(1)	p.A1028S(1)	lung(1)	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						c.(3082-3084)Gca>Aca		atrophin 1							52	48	49					12																	7048208		2203	4298	6501	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048208G>A	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.3082G>A	12.37:g.7048208G>A	ENSP00000349076:p.Ala1028Thr					ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T	p.A1028T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3319	+			1028					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.3082G>A	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638389	0.67130	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56275	0.47;0.47;0.47	4.85	3.94	0.45596	.	0.242144	0.21130	N	0.079673	T	0.62282	0.2415	L	0.33339	1.005	0.37660	D	0.92275	D	0.76494	0.999	D	0.74023	0.982	T	0.70517	-0.4850	10	0.87932	D	0	.	15.4351	0.75140	0.0:0.1396:0.8604:0.0	.	1028	P54259	ATN1_HUMAN	T	1028;1028;1028;613	ENSP00000349076:A1028T;ENSP00000379915:A1028T;ENSP00000441744:A1028T	ENSP00000229279:A613T	A	+	1	0	ATN1	6918469	1.000000	0.71417	0.393000	0.26258	0.771000	0.43674	6.319000	0.72871	1.377000	0.46286	0.655000	0.94253	GCA		0.662	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		4	109	0	0	0	1	0	4	109					A	7048208	G	A	7048208	3	1	252	1	0	0	0	0	1	0	0	0	1111	1087	38	1	3104	1	ATN1	12	7048208	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	114733	7048208	126803687	38	28788											
FREM2	341640	broad.mit.edu	37	chr13	39265629	39265629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacttaattcagtatgTccatttggggcaagagggca	11	7	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	ENST00000280481.7	+	1	4364	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1383					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)		ATTCAGTATGTCCATTTGGGG	0.413																																						ENST00000280481.7																			0				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						c.(4147-4149)gTc>gCc		FRAS1 related extracellular matrix protein 2							101	93	95					13																	39265629		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265629T>C	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.4148T>C	13.37:g.39265629T>C	ENSP00000280481:p.Val1383Ala						p.V1383A	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		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)	1	4364	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1383					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4148T>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	0.114	-1.134552	0.01742	.	.	ENSG00000150893	ENST00000280481	T	0.37752	1.18	5.81	4.65	0.58169	.	0.236560	0.42548	D	0.000688	T	0.25457	0.0619	L	0.46741	1.465	0.22001	N	0.999426	B	0.09022	0.002	B	0.10450	0.005	T	0.21930	-1.0231	10	0.09590	T	0.72	.	6.5438	0.22394	0.1384:0.0721:0.0:0.7895	.	1383	Q5SZK8	FREM2_HUMAN	A	1383	ENSP00000280481:V1383A	ENSP00000280481:V1383A	V	+	2	0	FREM2	38163629	0.255000	0.24002	0.997000	0.53966	0.800000	0.45204	1.307000	0.33516	2.217000	0.71921	0.533000	0.62120	GTC		0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		11	156	0	0	0	1	0	11	156					C	39265629	T	C	39265629	3	2	252	1	0	0	0	0	1	0	0	0	6045	1667	58	3	4150	3	FREM2	13	39265629	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08		39265629	75904249	39	28789											
TBC1D4	9882	broad.mit.edu	37	chr13	75861015	75861015	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgactagagcatccgcGggcagcagcttccggagttg	13	11	0	2	rs374784151		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:75861015G>A	ENST00000377636.3	-	21	4156	c.3810C>T	c.(3808-3810)ccC>ccT	p.P1270P	TBC1D4_ENST00000425511.1_Silent_p.P434P|TBC1D4_ENST00000377625.2_Silent_p.P1207P|TBC1D4_ENST00000431480.2_Silent_p.P1262P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1270					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P1270P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGCATCCGCGGGCAGCAGCT	0.453																																						ENST00000377636.3																			1	Substitution - coding silent(1)	p.P1270P(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3808-3810)ccC>ccT		TBC1 domain family, member 4		G		0,3796		0,0,1898	100	103	102		3810	-9.5	0.2	13		102	1,8241		0,1,4120	no	coding-synonymous	TBC1D4	NM_014832.2		0,1,6018	AA,AG,GG		0.0121,0.0,0.0083		1270/1299	75861015	1,12037	1898	4121	6019	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75861015G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3810C>T	13.37:g.75861015G>A						TBC1D4_ENST00000431480.2_Silent_p.P1262P|TBC1D4_ENST00000377625.2_Silent_p.P1207P|TBC1D4_ENST00000425511.1_Silent_p.P434P	p.P1270P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	21	4156	-		Prostate(6;0.014)|Breast(118;0.0982)	1270					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.3810C>T	CCDS41901.1																																																																																				0.453	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		3	56	0	0	0	1	0	3	56					A	75861015	G	A	75861015	2	1	252	1	0	0	0	0	0	0	0	1	15619	1103	39	1		1	TBC1D4	13	75861015	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	36595386	75861015	39308863	40	28790											
RFX7	64864	broad.mit.edu	37	chr15	56387426	56387426	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatctggctatgtagctGctggctatatgtgtcctgtg	12	8	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	ENST00000559447.2	-	9	2480	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.Q834*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	737					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2500-2502)Cag>Tag		regulatory factor X, 7							117	115	116					15																	56387426		1899	4127	6026	SO:0001587	stop_gained	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387426G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2209C>T	15.37:g.56387426G>A	ENSP00000453281:p.Gln737*					RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q737*	p.Q834*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2499	-			737					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37	c.2500C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.085769	0.97271	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.9433	18.2487	0.89996	0.0:0.0:1.0:0.0	.	.	.	.	X	737;834;834	.	ENSP00000313299:Q834X	Q	-	1	0	RFX7	54174718	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.081000	0.64444	2.531000	0.85337	0.563000	0.77884	CAG		0.393	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		8	132	0	0	0	1	0	8	132					A	56387426	G	A	56387426	4	1	252	1	0	0	0	0	0	1	0	0	13268	1328	46	2	1886	2	RFX7	15	56387426	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		56387426	46143966	41	28791											
EFTUD1	79631	broad.mit.edu	37	chr15	82554109	82554109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatcttatccaaactgTtgagcaccatgattacttat	5	9	2	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	ENST00000268206.7	-	2	179	c.11A>G	c.(10-12)aAc>aGc	p.N4S	FAM154B_ENST00000427381.2_5'Flank|FAM154B_ENST00000339465.5_5'Flank|EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S|FAM154B_ENST00000566861.1_5'Flank|FAM154B_ENST00000565432.1_5'Flank|FAM154B_ENST00000566205.1_5'Flank	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	4					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(10-12)aAc>aGc		elongation factor Tu GTP binding domain containing 1							130	113	118					15																	82554109		1823	4090	5913	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82554109T>C	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.11A>G	15.37:g.82554109T>C	ENSP00000268206:p.Asn4Ser					EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S	p.N4S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			2	179	-			4					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.11A>G	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	T	7.348	0.622275	0.14193	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.62498	0.02;0.3	3.71	0.0756	0.14399	.	1.186530	0.06266	N	0.694762	T	0.43942	0.1270	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	10	0.34782	T	0.22	-11.2612	0.5891	0.00725	0.2635:0.3081:0.1444:0.2841	.	4;4	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	4	ENSP00000268206:N4S;ENSP00000352418:N4S	ENSP00000268206:N4S	N	-	2	0	EFTUD1	80341164	0.036000	0.19791	0.809000	0.32408	0.870000	0.49936	0.168000	0.16622	-0.167000	0.10871	0.438000	0.28831	AAC		0.333	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		21	94	0	0	0	1	0	21	94					C	82554109	T	C	82554109	3	2	252	1	0	0	0	0	1	0	0	0	4960	1725	60	3	3427	3	EFTUD1	15	82554109	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	26166683	82554109	19977283	42	28792											
ACSM2A	123876	broad.mit.edu	37	chr16	20471589	20471589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactttgctagtgatgtgttGgatcactgggctgacatgga	13	6	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:20471589G>T	ENST00000573854.1	+	2	267	c.153G>T	c.(151-153)ttG>ttT	p.L51F	ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	51					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGATGTGTTGGATCACTGGG	0.453																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(151-153)ttG>ttT		acyl-CoA synthetase medium-chain family member 2A							56	53	54					16																	20471589		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471589G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.153G>T	16.37:g.20471589G>T	ENSP00000459451:p.Leu51Phe					ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F	p.L51F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			2	267	+			51					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.153G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864876	0.32977	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.51817	0.69;0.69;0.69	3.81	-0.843	0.10744	.	1.423280	0.04447	N	0.371987	T	0.28962	0.0719	N	0.20445	0.575	0.26078	N	0.981121	B	0.22080	0.064	B	0.20184	0.028	T	0.13045	-1.0524	10	0.19147	T	0.46	-0.1018	4.066	0.09861	0.3357:0.1774:0.4868:0.0	.	51	Q08AH3	ACS2A_HUMAN	F	51	ENSP00000219054:L51F;ENSP00000394904:L51F;ENSP00000379411:L51F	ENSP00000219054:L51F	L	+	3	2	ACSM2A	20379090	0.203000	0.23435	0.666000	0.29783	0.927000	0.56198	-0.345000	0.07770	-0.093000	0.12396	0.454000	0.30748	TTG		0.453	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	57	1	0	0.217242	1	0.224139	4	57					T	20471589	G	T	20471589	3	4	252	1	0	0	0	0	1	0	0	0	183	1339	47	4	155	4	ACSM2A	16	20471589	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		20471589	69883164	43	28793											
ZNF764	92595	broad.mit.edu	37	chr16	30566916	30566916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgcacgcgccggtgctGgtagagggcagagctctggc	18	11	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:30566916G>T	ENST00000252797.2	-	3	906	c.826C>A	c.(826-828)Cag>Aag	p.Q276K	ZNF764_ENST00000395091.2_Missense_Mutation_p.Q275K|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	276					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						CGCCGGTGCTGGTAGAGGGCA	0.726																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(823-825)Cag>Aag		zinc finger protein 764							5	7	7					16																	30566916		2073	4137	6210	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566916G>T	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.826C>A	16.37:g.30566916G>T	ENSP00000252797:p.Gln276Lys					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.Q276K	p.Q275K			Q96H86	ZN764_HUMAN			3	1138	-			276					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.823C>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	G	3.180	-0.168054	0.06461	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.15017	2.46;2.46	5.16	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002333	T	0.06917	0.0176	N	0.16307	0.4	0.19575	N	0.999963	P;B	0.38827	0.649;0.077	B;B	0.37692	0.256;0.037	T	0.22521	-1.0214	10	0.05351	T	0.99	-17.8248	3.2757	0.06897	0.0839:0.1602:0.4475:0.3084	.	275;276	B3KSN2;Q96H86	.;ZN764_HUMAN	K	276;275	ENSP00000252797:Q276K;ENSP00000378526:Q275K	ENSP00000252797:Q276K	Q	-	1	0	ZNF764	30474417	0.000000	0.05858	0.995000	0.50966	0.809000	0.45718	-0.825000	0.04433	0.720000	0.32209	0.462000	0.41574	CAG		0.726	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		3	9	1	0	0.115264	1	0.120841	3	9					T	30566916	G	T	30566916	3	4	252	1	0	0	0	0	1	0	0	0	18135	1357	47	4	404	4	ZNF764	16	30566916	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	10095327	30566916	59787837	44	28794											
TMCO7	79613	broad.mit.edu	37	chr16	68900994	68900994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctcagtcctgcacagatGtgaagacacagatgaggtgt	11	8	1	5			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:68900994G>A	ENST00000261778.1	+	4	877	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	289						integral component of membrane (GO:0016021)											CTGCACAGATGTGAAGACACA	0.473																																						ENST00000261778.1																			0											c.(865-867)Gtg>Atg		transport and golgi organization 6 homolog (Drosophila)							93	91	92					16																	68900994		1909	4128	6037	SO:0001583	missense	79613							g.chr16:68900994G>A		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.865G>A	16.37:g.68900994G>A	ENSP00000261778:p.Val289Met						p.V289M	NM_024562.1	NP_078838.1					4	877	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.865G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385210	0.42308	.	.	ENSG00000103047	ENST00000261778	T	0.70516	-0.49	5.83	2.8	0.32819	.	.	.	.	.	T	0.59582	0.2204	L	0.44542	1.39	0.09310	N	1	P;P	0.44877	0.845;0.681	B;B	0.37601	0.254;0.254	T	0.48019	-0.9071	9	0.41790	T	0.15	0.4752	10.6683	0.45743	0.2157:0.0:0.7843:0.0	.	289;128	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	M	289	ENSP00000261778:V289M	ENSP00000261778:V289M	V	+	1	0	TMCO7	67458495	0.037000	0.19845	0.028000	0.17463	0.169000	0.22640	0.953000	0.29162	0.817000	0.34445	-0.145000	0.13849	GTG		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		38	78	0	0	0	1	0	38	78					A	68900994	G	A	68900994	3	1	252	1	0	0	0	0	1	0	0	0	15998	1377	48	2	879	2	TMCO7	16	68900994	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	38334078	68900994	21453759	45	28795											
CLDN7	1366	broad.mit.edu	37	chr17	7163696	7163696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggagatcccaggtcaCacatactccttggaagagtt	11	10	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7163696C>T	ENST00000360325.7	-	4	1067	c.633G>A	c.(631-633)gtG>gtA	p.V211V	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Silent_p.V211V	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	211	Interactions with TJP1, TJP2 and TJP3. {ECO:0000250}.				calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TCCCAGGTCACACATACTCCT	0.597																																						ENST00000360325.7																			0				kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(631-633)gtG>gtA		claudin 7							105	88	94					17																	7163696		2203	4300	6503	SO:0001819	synonymous_variant	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7163696C>T	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.633G>A	17.37:g.7163696C>T						CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000397317.4_Silent_p.V211V|RP1-4G17.5_ENST00000577138.1_Intron	p.V211V	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN			4	1067	-			211			Interactions with TJP1, TJP2 and TJP3 (By similarity).		B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	c.633G>A	CCDS11096.1																																																																																				0.597	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		7	153	0	0	0	1	0	7	153					T	7163696	C	T	7163696	2	4	252	1	0	0	0	0	0	0	0	1	3490	465	17	2		2	CLDN7	17	7163696	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		7163696	74031514	46	28796											
DNAH2	146754	broad.mit.edu	37	chr17	7708392	7708392	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggaagaggccatgcgGgtaccaggggcgggtgcaag	19	10	0	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	ENST00000572933.1	+	60	10760	c.9300G>A	c.(9298-9300)cgG>cgA	p.R3100R	DNAH2_ENST00000389173.2_Splice_Site_p.R3100R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3100	Stalk. {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)				AGGCCATGCGGGTACCAGGGG	0.582																																						ENST00000572933.1																			0				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						c.e60+1		dynein, axonemal, heavy chain 2							47	54	52					17																	7708392		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708392G>A	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.9300+1G>A	17.37:g.7708392G>A						DNAH2_ENST00000389173.2_Splice_Site_p.R3100_splice	p.R3100_splice			Q9P225	DYH2_HUMAN			60	10760	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3100			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37	c.9300_splice	CCDS32551.1																																																																																				0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Silent	3	67	0	0	0	1	0	3	67					A	7708392	G	A	7708392	5	1	252	1	0	0	0	0	0	0	1	0	4602	1246	43	2	9534	2	DNAH2	17	7708392	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08	544696	7708392	73486818	47	28797											
KDM6B	23135	broad.mit.edu	37	chr17	7752905	7752905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttagtgaggggccccCcaaggagctgaagatccggc	13	13	1	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	ENST00000448097.2	+	11	3630	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1100H			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1100					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGGGGCCCCCCAAGGAGCTG	0.632																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3298-3300)cCc>cAc		lysine (K)-specific demethylase 6B							17	20	19					17																	7752905		2200	4291	6491	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752905C>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3299C>A	17.37:g.7752905C>A	ENSP00000412513:p.Pro1100His					KDM6B_ENST00000448097.2_Missense_Mutation_p.P1100H	p.P1100H	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3688	+			1100					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3299C>A		.	.	.	.	.	.	.	.	.	.	C	14.59	2.581646	0.46006	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.42513	0.97;0.99	4.71	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.44542	1.39	0.46028	D	0.998827	D;D	0.89917	0.999;1.0	D;D	0.78314	0.936;0.991	T	0.34477	-0.9827	10	0.10636	T	0.68	-2.8427	13.5408	0.61672	0.0:0.8423:0.1576:0.0	.	1100;1100	O15054;O15054-1	KDM6B_HUMAN;.	H	1100	ENSP00000254846:P1100H;ENSP00000412513:P1100H	ENSP00000254846:P1100H	P	+	2	0	KDM6B	7693630	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	3.931000	0.56529	2.344000	0.79699	0.462000	0.41574	CCC		0.632	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	30	1	0	2.56e-06	1	2.86897e-06	3	30					A	7752905	C	A	7752905	3	1	252	1	0	0	0	0	1	0	0	0	8138	623	22	4	3329	4	KDM6B	17	7752905	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	44513	7752905	73442305	48	28798											
MYH8	4626	broad.mit.edu	37	chr17	10303716	10303716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgggtaccttggctttGgaaatggcctctgcgttact	12	8	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	ENST00000403437.2	-	27	3820	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1242					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						CCTTGGCTTTGGAAATGGCCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(3724-3726)tcC>tcT		myosin, heavy chain 8, skeletal muscle, perinatal							192	183	186					17																	10303716		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303716G>A		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.3726C>T	17.37:g.10303716G>A						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.S1242S	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3820	-			1242					Q14910	Silent	SNP	ENST00000403437.2	37	c.3726C>T	CCDS11153.1																																																																																				0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		59	180	0	0	0	1	0	59	180					A	10303716	G	A	10303716	2	1	252	1	0	0	0	0	0	0	0	1	10041	1335	47	2		2	MYH8	17	10303716	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	2550811	10303716	70891494	49	28799											
TBC1D28	254272	broad.mit.edu	37	chr17	18539791	18539791	+	Frame_Shift_Del	DEL	C	C	-													attttcaagaagttgcaacaCccccgagagacacccatgcc							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:18539791delC	ENST00000345096.4	-	9	1316	c.617delG	c.(616-618)ggtfs	p.G206fs	TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	206	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGTTGCAACACCCCCGAGAGA	0.532																																						ENST00000345096.4																			0				breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						c.(616-618)gtfs		TBC1 domain family, member 28							96	96	96					17																	18539791		1927	4129	6056	SO:0001589	frameshift_variant	254272					intracellular	Rab GTPase activator activity	g.chr17:18539791delC		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.617delG	17.37:g.18539791delC	ENSP00000339973:p.Gly206fs					TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs	p.G206fs			Q2M2D7	TBC28_HUMAN			9	1316	-			206			Rab-GAP TBC.		Q2M2E1	Frame_Shift_Del	DEL	ENST00000345096.4	37	c.617delG	CCDS42273.1																																																																																				0.532	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		10	176						10	176	---	---	---	---	-	18539791	C	-	18539791	7	5	252	1	0	1	0	1	0	0	0	0	15614	507	18	0	19	0	TBC1D28	17	18539791	Frame_Shift_Del	DEL	C	TCGA-HT-7605-01A-11D-2086-08	8236075	18539791	62655419	50	28800											
SLC25A39	51629	broad.mit.edu	37	chr17	42399117	42399117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgccctcgtgcctcaCgatcttcacgaaggcatcct	9	16	3	0	rs368381651		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	ENST00000377095.5	-	6	462	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.V107M|SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	115					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18314	0.0		0.001	False		,,,				2504	0.0					ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(319-321)Gtg>Atg		solute carrier family 25, member 39							47	47	47					17																	42399117		2203	4300	6503	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42399117C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.343G>A	17.37:g.42399117C>T	ENSP00000366299:p.Val115Met					SLC25A39_ENST00000377095.5_Missense_Mutation_p.V115M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M|SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M	p.V107M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	6	493	-		Prostate(33;0.0233)	115					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.319G>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612297	0.46631	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80566	-1.39;-1.39;-1.39	5.38	4.35	0.52113	Mitochondrial carrier domain (2);	0.122041	0.53938	D	0.000056	T	0.64349	0.2590	L	0.35644	1.08	0.30215	N	0.797322	B;P;P;B;P	0.41546	0.37;0.754;0.484;0.283;0.676	B;B;B;B;B	0.34489	0.082;0.184;0.067;0.094;0.06	T	0.63849	-0.6544	10	0.33940	T	0.23	-25.877	4.722	0.12922	0.0:0.7355:0.0:0.2645	.	100;107;92;115;107	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	M	107;115;92	ENSP00000225308:V107M;ENSP00000366299:V115M;ENSP00000444540:V92M	ENSP00000225308:V107M	V	-	1	0	SLC25A39	39754643	0.017000	0.18338	1.000000	0.80357	0.843000	0.47879	1.553000	0.36255	2.793000	0.96121	0.655000	0.94253	GTG		0.637	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		13	38	0	0	0	1	0	13	38					T	42399117	C	T	42399117	3	4	252	1	0	0	0	0	1	0	0	0	14503	536	19	1	764	1	SLC25A39	17	42399117	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	23859326	42399117	38796093	51	28801											
CACNA1G	8913	broad.mit.edu	37	chr17	48652951	48652951	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggtggtgattgccacGcagttctcagagaccaagca	12	11	1	2	rs201089692	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	ENST00000359106.5	+	8	1188	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000352832.5_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	396					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)			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)	TGATTGCCACGCAGTTCTCAG	0.572																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1186-1188)acG>acA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						44	46	46					17																	48652951		2167	4270	6437	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48652951G>A	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.1188G>A	17.37:g.48652951G>A						CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000359106.5_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T	p.T396T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	1560	+	Breast(11;6.7e-17)		396					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	Silent	SNP	ENST00000359106.5	37	c.1188G>A	CCDS45730.1																																																																																				0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		19	46	0	0	0	1	0	19	46					A	48652951	G	A	48652951	2	1	252	1	0	0	0	0	0	0	0	1	2544	1074	38	1		1	CACNA1G	17	48652951	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	6253834	48652951	32542259	52	28802											
KANK3	256949	broad.mit.edu	37	chr19	8398111	8398111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccacgaggcgcactgCgccctgcaagggacaggggc	17	14	0	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:8398111C>T	ENST00000593649.1	-	7	1788	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	KANK3_ENST00000330915.3_Missense_Mutation_p.A575T			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	575										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGCGCACTGCGCCCTGCAAG	0.697																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1723-1725)Gca>Aca		KN motif and ankyrin repeat domains 3							17	18	17					19																	8398111		2195	4290	6485	SO:0001583	missense	256949							g.chr19:8398111C>T	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.1723G>A	19.37:g.8398111C>T	ENSP00000470728:p.Ala575Thr					KANK3_ENST00000593649.1_Missense_Mutation_p.A575T	p.A575T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			7	1788	-			575					Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37	c.1723G>A		.	.	.	.	.	.	.	.	.	.	C	15.31	2.794662	0.50102	.	.	ENSG00000186994	ENST00000330915;ENST00000381056	T	0.28454	1.61	4.52	3.43	0.39272	.	.	.	.	.	T	0.21841	0.0526	L	0.54323	1.7	0.26321	N	0.977677	P	0.43314	0.803	B	0.32533	0.147	T	0.14448	-1.0472	9	0.36615	T	0.2	-20.8819	5.4418	0.16513	0.0:0.812:0.0:0.188	.	575	Q6NY19-2	.	T	575;119	ENSP00000328923:A575T	ENSP00000328923:A575T	A	-	1	0	KANK3	8304111	0.015000	0.18098	0.933000	0.37362	0.134000	0.20937	1.468000	0.35332	2.331000	0.79229	0.448000	0.29417	GCA		0.697	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	33	0	0	0	1	0	3	33					T	8398111	C	T	8398111	3	4	252	1	0	0	0	0	1	0	0	0	7978	768	27	1	762	1	KANK3	19	8398111	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8398111	50730872	53	28803											
NFIX	4784	broad.mit.edu	37	chr19	13192587	13192589	+	In_Frame_Del	DEL	ACC	ACC	-													cacgcacccgaccatccgctAccaccaccaccacgggcagg							TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:13192587_13192589delACC	ENST00000592199.1	+	8	1172_1174	c.1172_1174delACC	c.(1171-1176)taccac>tac	p.H395del	NFIX_ENST00000360105.4_In_Frame_Del_p.H357del|NFIX_ENST00000585575.1_In_Frame_Del_p.H387del|NFIX_ENST00000587760.1_In_Frame_Del_p.H387del|NFIX_ENST00000358552.3_In_Frame_Del_p.H353del|NFIX_ENST00000587260.1_In_Frame_Del_p.H394del|NFIX_ENST00000588228.1_In_Frame_Del_p.H348del|NFIX_ENST00000397661.2_In_Frame_Del_p.H395del			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	395					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|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)	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)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCATCCGCTACCACCACCACCA	0.645											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(1045-1050)tac>t		nuclear factor I/X (CCAAT-binding transcription factor)																																				SO:0001651	inframe_deletion	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192587_13192589delACC	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1172_1174delACC	19.37:g.13192596_13192598delACC	ENSP00000467512:p.His395del		OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	NFIX_ENST00000587260.1_In_Frame_Del_p.YH390del|NFIX_ENST00000592199.1_In_Frame_Del_p.YH391del|NFIX_ENST00000397661.2_In_Frame_Del_p.YH391del|NFIX_ENST00000587760.1_In_Frame_Del_p.YH383del|NFIX_ENST00000360105.4_In_Frame_Del_p.YH353del|NFIX_ENST00000585575.1_In_Frame_Del_p.YH383del|NFIX_ENST00000588228.1_In_Frame_Del_p.YH344del	p.YH349del			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		6	1046_1048	+			391					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	In_Frame_Del	DEL	ENST00000592199.1	37	c.1046_1048delACC																																																																																					0.645	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		7	119						7	119	---	---	---	---	-	13192589	ACC	-	13192587	7	5	252	1	0	1	0	1	0	0	0	0	10374	391	14	0	1202	0	NFIX	19	13192587	In_Frame_Del	DEL	ACC	TCGA-HT-7605-01A-11D-2086-08	4794476	13192587	45936396	54	28804											
HAS1	3036	broad.mit.edu	37	chr19	52220383	52220383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccctacccgggggtcctCgtccagtacccgcacgagct	11	18	0	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	ENST00000222115.1	-	3	800	c.766G>A	c.(766-768)Gag>Aag	p.E256K	HAS1_ENST00000601714.1_Missense_Mutation_p.E263K|HAS1_ENST00000540069.2_Missense_Mutation_p.E255K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	256					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)		CGGGGGTCCTCGTCCAGTACC	0.622																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				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						c.(763-765)Gag>Aag		hyaluronan synthase 1							74	73	73					19																	52220383		2203	4300	6503	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52220383C>T	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.766G>A	19.37:g.52220383C>T	ENSP00000222115:p.Glu256Lys					HAS1_ENST00000222115.1_Missense_Mutation_p.E256K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K|HAS1_ENST00000601714.1_Missense_Mutation_p.E263K	p.E255K			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	823	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	256					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.763G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	12.61	1.990226	0.35131	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59638	0.25;0.25	4.32	4.32	0.51571	.	0.344745	0.29544	U	0.011842	T	0.35335	0.0928	N	0.20807	0.61	0.25133	N	0.990553	P;P;P	0.43412	0.589;0.806;0.806	B;B;B	0.33690	0.105;0.168;0.168	T	0.25117	-1.0141	10	0.33940	T	0.23	-13.7537	10.0815	0.42393	0.2009:0.7991:0.0:0.0	.	255;256;255	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	K	255;256;113;110	ENSP00000445021:E255K;ENSP00000222115:E256K	ENSP00000222115:E256K	E	-	1	0	HAS1	56912195	0.005000	0.15991	0.999000	0.59377	0.665000	0.39181	1.869000	0.39519	2.133000	0.65898	0.489000	0.48404	GAG		0.622	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		13	69	0	0	0	1	0	13	69					T	52220383	C	T	52220383	3	4	252	1	0	0	0	0	1	0	0	0	6961	893	31	1	982	1	HAS1	19	52220383	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	39027796	52220383	6908600	55	28805											
C20orf106	200232	broad.mit.edu	37	chr20	55101032	55101032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgccatggcaacaggtaGtggcagtaacctcaggcttc	12	11	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr20:55101032G>A	ENST00000371328.3	+	2	745	c.422G>A	c.(421-423)aGt>aAt	p.S141N	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'Flank	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	141						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GCAACAGGTAGTGGCAGTAAC	0.448																																						ENST00000371328.3																			0											c.(421-423)aGt>aAt		family with sequence similarity 209, member A							115	104	108					20																	55101032		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55101032G>A	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.422G>A	20.37:g.55101032G>A	ENSP00000360379:p.Ser141Asn					FAM209A_ENST00000481560.1_3'UTR	p.S141N	NM_001012971.3	NP_001012989.2					2	745	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.422G>A	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672085	0.00758	.	.	ENSG00000124103	ENST00000371328	T	0.11712	2.75	0.158	-0.317	0.12736	.	.	.	.	.	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	P	0.51866	0.682	T	0.17440	-1.0369	8	0.15066	T	0.55	.	.	.	.	.	141	Q5JX71	CT106_HUMAN	N	141	ENSP00000360379:S141N	ENSP00000360379:S141N	S	+	2	0	C20orf106	54534439	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.542000	0.06091	-1.029000	0.03317	-1.021000	0.02439	AGT		0.448	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			5	92	0	0	0	1	0	5	92					A	55101032	G	A	55101032	3	1	252	1	0	0	0	0	1	0	0	0	2076	1029	36	2	428	2	C20orf106	20	55101032	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		55101032	7924488	56	28806											
TAF1	6872	broad.mit.edu	37	chrX	70626502	70626502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagtgcggatgaggttcGcagaaaatctctggttctca	11	7	2	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	ENST00000373790.4	+	26	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000449580.1_Missense_Mutation_p.R1337L	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	1337					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)			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)				GATGAGGTTCGCAGAAAATCT	0.398																																						ENST00000449580.1																			0				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						c.(4009-4011)cGc>cTc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							115	96	102					X																	70626502		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70626502G>T		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.4010G>T	X.37:g.70626502G>T	ENSP00000362895:p.Arg1337Leu					TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000373790.4_Missense_Mutation_p.R1337L	p.R1337L			P21675	TAF1_HUMAN			26	4061	+	Renal(35;0.156)	all_lung(315;0.000321)	1337					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4010G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	31|31	5.088291|5.088291	0.94100|0.94100	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985;ENST00000463163|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.11712	.|2.75;2.82;2.8;2.75	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.092691	.|0.64402	.|D	.|0.000001	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	.|D;D;B	.|0.61080	.|0.988;0.989;0.388	.|D;P;B	.|0.63793	.|0.918;0.762;0.061	T|T	0.03034|0.03034	-1.1080|-1.1080	5|10	.|0.72032	.|D	.|0.01	.|.	17.4602|17.4602	0.87618|0.87618	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1337;1337;1358	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	S|L	248;3|1337;1337;1358;43;43;1358	.|ENSP00000362895:R1337L;ENSP00000389000:R1337L;ENSP00000406549:R1358L;ENSP00000276072:R1358L	.|ENSP00000276072:R1358L	A|R	+|+	1|2	0|0	TAF1|TAF1	70543227|70543227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.078000|9.078000	0.94023|0.94023	2.307000|2.307000	0.77673|0.77673	0.464000|0.464000	0.42555|0.42555	GCA|CGC		0.398	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		6	37	1	0	5.18039e-06	1	5.70721e-06	6	37					T	70626502	G	T	70626502	3	4	252	1	0	0	0	0	1	0	0	0	15510	1087	38	4	4175	4	TAF1	23	70626502	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		70626502	84644058	57	28807											
FMR1NB	158521	broad.mit.edu	37	chrX	147106438	147106438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagttgtaacgggtttgaAgaaacaaagaaggaagcgaa	13	4	0	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:147106438A>G	ENST00000370467.3	+	5	760	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	229						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGTTTGAAGAAACAAAGA	0.413																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(685-687)aAg>aGg		fragile X mental retardation 1 neighbor							145	125	132					X																	147106438		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147106438A>G		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.686A>G	X.37:g.147106438A>G	ENSP00000359498:p.Lys229Arg						p.K229R	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			5	760	+	Acute lymphoblastic leukemia(192;6.56e-05)		229					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.686A>G	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613506	0.46631	.	.	ENSG00000176988	ENST00000370467	T	0.38560	1.13	3.79	2.63	0.31362	.	0.179711	0.27100	N	0.020924	T	0.38108	0.1028	N	0.24115	0.695	0.09310	N	1	P	0.50943	0.94	P	0.56434	0.798	T	0.11966	-1.0566	10	0.87932	D	0	-28.8921	4.9601	0.14061	0.8607:0.0:0.1393:0.0	.	229	Q8N0W7	FMR1N_HUMAN	R	229	ENSP00000359498:K229R	ENSP00000359498:K229R	K	+	2	0	FMR1NB	146914130	0.996000	0.38824	0.065000	0.19835	0.014000	0.08584	2.102000	0.41796	0.627000	0.30340	0.486000	0.48141	AAG		0.413	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		3	45	0	0	0	1	0	3	45					G	147106438	A	G	147106438	3	3	252	1	0	0	0	0	1	0	0	0	5961	72	3	3	704	3	FMR1NB	23	147106438	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	76479936	147106438	8164122	58	28808											
FGR	2268	broad.mit.edu	37	chr1	27943402	27943402	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagctcctgcaccgagttGaactgaacccgtgtggtgat	11	12	0	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:27943402G>A	ENST00000374005.3	-	7	936	c.648C>T	c.(646-648)ttC>ttT	p.F216F	FGR_ENST00000374004.1_Silent_p.F216F|FGR_ENST00000399173.1_Silent_p.F216F|FGR_ENST00000545953.1_Silent_p.F150F	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	216	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		GCACCGAGTTGAACTGAACCC	0.562																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(646-648)ttC>ttT		feline Gardner-Rasheed sarcoma viral oncogene homolog							170	149	156					1																	27943402		2203	4300	6503	SO:0001819	synonymous_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27943402G>A	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.648C>T	1.37:g.27943402G>A						FGR_ENST00000545953.1_Silent_p.F150F|FGR_ENST00000399173.1_Silent_p.F216F|FGR_ENST00000374004.1_Silent_p.F216F	p.F216F	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		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)	7	936	-		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)	216			SH2.		D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.648C>T	CCDS305.1																																																																																				0.562	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		47	101	0	0	0	1	0	47	101					A	27943402	G	A	27943402	2	1	253	1	0	0	0	0	0	0	0	1	5874	1281	45	2		2	FGR	1	27943402	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		27943402	221307219	1	28809											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960425	33960425	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccagtgtagtgagccTgggggaaactttgcccaaag	13	10	0	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:33960425T>G	ENST00000361328.3	+	8	2634	c.2481T>G	c.(2479-2481)ccT>ccG	p.P827P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	827					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAGTGAGCCTGGGGGAAACT	0.448																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2479-2481)ccT>ccG		zinc finger and SCAN domain containing 20							156	153	154					1																	33960425		1912	4137	6049	SO:0001819	synonymous_variant	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960425T>G	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2481T>G	1.37:g.33960425T>G							p.P827P	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2634	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	827					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	ENST00000361328.3	37	c.2481T>G	CCDS41300.1																																																																																				0.448	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		77	112	0	0	0	1	0	77	112					G	33960425	T	G	33960425	2	3	253	1	0	0	0	0	0	0	0	1	18229	1567	55	5		5	ZSCAN20	1	33960425	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08	6017023	33960425	215290196	2	28810											
LRRC8D	55144	broad.mit.edu	37	chr1	90400076	90400076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgctgtcgggggtgccCgatgctgtctttgacctcac	12	12	3	1	rs370858889		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483					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)		CGGGGGTGCCCGATGCTGTCT	0.468																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1447-1449)ccC>ccT		leucine rich repeat containing 8 family, member D		C	,	1,4405	2.1+/-5.4	0,1,2202	47	47	47		1449,1449	-1.8	1	1		47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRRC8D	NM_001134479.1,NM_018103.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	483/859,483/859	90400076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400076C>T	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.1449C>T	1.37:g.90400076C>T						LRRC8D_ENST00000394593.3_Silent_p.P483P	p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1856	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	483					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1449C>T	CCDS726.1																																																																																				0.468	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		13	28	0	0	0	1	0	13	28					T	90400076	C	T	90400076	2	4	253	1	0	0	0	0	0	0	0	1	9024	639	23	1		1	LRRC8D	1	90400076	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	56439651	90400076	158850545	3	28811											
CFHR5	81494	broad.mit.edu	37	chr1	196953247	196953247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacggggctggtccactcCtcccatatgcagcttcacta	9	14	1	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:196953247C>T	ENST00000256785.4	+	3	519	c.410C>T	c.(409-411)cCt>cTt	p.P137L	CFHR5_ENST00000367414.5_Missense_Mutation_p.P161L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	137	Sushi 2. {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						TGGTCCACTCCTCCCATATGC	0.348																																						ENST00000367414.5																			0				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						c.(481-483)cCt>cTt		complement factor H-related 5							80	72	75					1																	196953247		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196953247C>T	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.410C>T	1.37:g.196953247C>T	ENSP00000256785:p.Pro137Leu					CFHR5_ENST00000256785.4_Missense_Mutation_p.P137L	p.P161L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			3	538	+			137			Sushi 3.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.482C>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291466	0.23564	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65732	-0.17;-0.17	3.53	0.136	0.14780	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50137	0.1598	L	0.54323	1.7	0.09310	N	1	B	0.24576	0.106	B	0.31016	0.123	T	0.39099	-0.9630	9	0.20519	T	0.43	.	2.3428	0.04264	0.1931:0.4952:0.1894:0.1223	.	137	Q9BXR6	FHR5_HUMAN	L	161;137	ENSP00000356384:P161L;ENSP00000256785:P137L	ENSP00000256785:P137L	P	+	2	0	CFHR5	195219870	0.001000	0.12720	0.004000	0.12327	0.034000	0.12701	-0.020000	0.12525	0.094000	0.17404	0.313000	0.20887	CCT		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		15	31	0	0	0	1	0	15	31					T	196953247	C	T	196953247	3	4	253	1	0	0	0	0	1	0	0	0	3288	681	24	2	420	2	CFHR5	1	196953247	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	106553171	196953247	52297374	4	28812											
ASPM	259266	broad.mit.edu	37	chr1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccactgaaccagtttgcGtacattccacagtttgagta	7	10	0	2	rs201067420		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:197091601G>A	ENST00000367409.4	-	14	3771	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1172	CH 2. {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)		p.T1172M(1)		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						ACCAGTTTGCGTACATTCCAC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19208	0.001		0.0	False		,,,				2504	0.0					ENST00000367409.4																			1	Substitution - Missense(1)	p.T1172M(1)	endometrium(1)	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						c.(3514-3516)aCg>aTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							108	94	99					1																	197091601		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091601G>A	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.3515C>T	1.37:g.197091601G>A	ENSP00000356379:p.Thr1172Met					ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M	p.T1172M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			14	3771	-			1172			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3515C>T	CCDS1389.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.69	1.420472	0.25639	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58652	0.32;1.59;1.31	5.96	4.11	0.48088	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (3);	0.648225	0.15474	N	0.260459	T	0.39410	0.1077	L	0.29908	0.895	0.09310	N	1	B;P	0.40660	0.161;0.726	B;B	0.31495	0.058;0.131	T	0.21348	-1.0248	10	0.52906	T	0.07	.	8.5021	0.33163	0.1337:0.1258:0.7405:0.0	.	1172;1172	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	M	1172;1172;422	ENSP00000356379:T1172M;ENSP00000294732:T1172M;ENSP00000356378:T422M	ENSP00000294732:T1172M	T	-	2	0	ASPM	195358224	0.697000	0.27767	0.003000	0.11579	0.874000	0.50279	3.915000	0.56409	0.877000	0.35895	-0.224000	0.12420	ACG		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	19	0	0	0	1	0	9	19					A	197091601	G	A	197091601	3	1	253	1	0	0	0	0	1	0	0	0	1056	1145	40	1	6978	1	ASPM	1	197091601	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	138354	197091601	52159020	5	28813											
C2orf16	84226	broad.mit.edu	37	chr2	27804533	27804533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagacatcgcagtccctcTcagaggagccatcgtggtcc	11	13	1	3	rs112180798	byFrequency	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:27804533T>C	ENST00000408964.2	+	1	5145	c.5094T>C	c.(5092-5094)tcT>tcC	p.S1698S	ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1698	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCTCAGAGGAGCC	0.587																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5092-5094)tcT>tcC		chromosome 2 open reading frame 16							149	152	151					2																	27804533		1918	4131	6049	SO:0001819	synonymous_variant	84226							g.chr2:27804533T>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5094T>C	2.37:g.27804533T>C							p.S1698S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5145	+	Acute lymphoblastic leukemia(172;0.155)		1698			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5094T>C	CCDS42666.1																																																																																				0.587	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		5	132	0	0	0	1	0	5	132					C	27804533	T	C	27804533	2	2	253	1	0	0	0	0	0	0	0	1	2157	1538	54	3		3	C2orf16	2	27804533	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		27804533	215394840	6	28814											
CCDC150	284992	broad.mit.edu	37	chr2	197585312	197585312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttagggatctcaatcaaCagagggtgcagaagctggaa	12	6	2	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:197585312C>A	ENST00000389175.4	+	20	2314	c.2179C>A	c.(2179-2181)Cag>Aag	p.Q727K	CCDC150_ENST00000272831.7_Missense_Mutation_p.Q374K|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Missense_Mutation_p.Q214K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	727										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCAATCAACAGAGGGTGCA	0.448																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2179-2181)Cag>Aag		coiled-coil domain containing 150							76	77	76					2																	197585312		1893	4112	6005	SO:0001583	missense	284992							g.chr2:197585312C>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2179C>A	2.37:g.197585312C>A	ENSP00000373827:p.Gln727Lys					CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Missense_Mutation_p.Q214K|CCDC150_ENST00000272831.7_Missense_Mutation_p.Q374K	p.Q727K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			20	2314	+			727					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.2179C>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101757	0.37048	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T;T;T	0.50548	0.74;0.74;0.74	4.37	4.37	0.52481	.	0.088878	0.46145	D	0.000308	T	0.58047	0.2095	L	0.50333	1.59	0.80722	D	1	D;P;B;D;D	0.76494	0.999;0.728;0.218;0.996;0.998	D;B;B;D;D	0.80764	0.994;0.325;0.083;0.979;0.941	T	0.50215	-0.8854	10	0.16896	T	0.51	.	12.6165	0.56580	0.0:1.0:0.0:0.0	.	144;374;214;42;727	B4DWS7;B4DZ03;Q8NCX0-2;Q8NCX0-4;Q8NCX0	.;.;.;.;CC150_HUMAN	K	374;727;214	ENSP00000272831:Q374K;ENSP00000373827:Q727K;ENSP00000387257:Q214K	ENSP00000272831:Q374K	Q	+	1	0	CCDC150	197293557	0.978000	0.34361	0.899000	0.35326	0.348000	0.29142	3.731000	0.55013	2.417000	0.82017	0.557000	0.71058	CAG		0.448	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		8	31	1	0	5.18039e-06	1	5.37226e-06	8	31					A	197585312	C	A	197585312	3	1	253	1	0	0	0	0	1	0	0	0	2785	479	17	4	2257	4	CCDC150	2	197585312	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	169780779	197585312	45614061	7	28815											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	39	0	0	0	1	0	27	39					T	209113112	C	T	209113112	3	4	253	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	11527800	209113112	34086261	8	28816											
VIL1	7429	broad.mit.edu	37	chr2	219295519	219295519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatggggctgagtcggcCgtctttcagcagctcttcca	12	11	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:219295519C>T	ENST00000248444.5	+	10	1108	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	VIL1_ENST00000392114.2_Silent_p.A29A|VIL1_ENST00000440053.1_Silent_p.A340A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	340	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGTCGGCCGTCTTTCAGC	0.597																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1018-1020)gcC>gcT		villin 1							78	70	73					2																	219295519		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219295519C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1020C>T	2.37:g.219295519C>T						VIL1_ENST00000440053.1_Silent_p.A340A|VIL1_ENST00000392114.2_Silent_p.A29A	p.A340A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1108	+		Renal(207;0.0474)	340			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.1020C>T	CCDS2417.1																																																																																				0.597	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		13	34	0	0	0	1	0	13	34					T	219295519	C	T	219295519	2	4	253	1	0	0	0	0	0	0	0	1	17161	639	23	1		1	VIL1	2	219295519	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	10182407	219295519	23903854	9	28817											
PCDH18	54510	broad.mit.edu	37	chr4	138452008	138452008	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagattaaataattgtttTcatatgtcttctgaagttta	5	3	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr4:138452008T>C	ENST00000344876.4	-	1	1621	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E412G|PCDH18_ENST00000507846.1_Missense_Mutation_p.E192G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATAATTGTTTTCATATGTCTT	0.403																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1234-1236)gAa>gGa		protocadherin 18							108	117	114					4																	138452008		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452008T>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1235A>G	4.37:g.138452008T>C	ENSP00000355082:p.Glu412Gly					PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E192G|PCDH18_ENST00000412923.2_Missense_Mutation_p.E412G|PCDH18_ENST00000510305.1_Intron	p.E412G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1621	-	all_hematologic(180;0.24)		412			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1235A>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.349489	0.41599	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.35605	1.3;1.3;1.3	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000449	T	0.45756	0.1358	N	0.17674	0.51	0.80722	D	1	D;B;D	0.89917	1.0;0.144;1.0	D;B;D	0.97110	1.0;0.062;1.0	T	0.37526	-0.9702	10	0.30854	T	0.27	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	192;412;412	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	G	412;412;192	ENSP00000355082:E412G;ENSP00000390688:E412G;ENSP00000425903:E192G	ENSP00000355082:E412G	E	-	2	0	PCDH18	138671458	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	6.243000	0.72384	2.313000	0.78055	0.455000	0.32223	GAA		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		3	23	0	0	0	1	0	3	23					C	138452008	T	C	138452008	3	2	253	1	0	0	0	0	1	0	0	0	11513	1783	62	3	2188	3	PCDH18	4	138452008	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		138452008	52702268	10	28818											
PCDHA11	56138	broad.mit.edu	37	chr5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacctggaggtgatcGtggacaggccgctgcaggtt	15	11	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr5:140249016G>A	ENST00000398640.2	+	1	328	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	110	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(328-330)Gtg>Atg									132	148	143					5																	140249016		2203	4298	6501	SO:0001583	missense	0							g.chr5:140249016G>A	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.328G>A	5.37:g.140249016G>A	ENSP00000381636:p.Val110Met					PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	p.V110M	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	328	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.328G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014629	0.54468	.	.	ENSG00000249158	ENST00000398640	T	0.37915	1.17	5.59	5.59	0.84812	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.53674	0.1811	M	0.76433	2.335	0.29584	N	0.848945	D;D	0.76494	0.999;0.986	P;P	0.53146	0.61;0.719	T	0.56721	-0.7932	9	0.56958	D	0.05	.	16.6165	0.84917	0.0:0.1297:0.8703:0.0	.	110;110	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	110	ENSP00000381636:V110M	ENSP00000381636:V110M	V	+	1	0	PCDHA11	140229200	0.000000	0.05858	0.999000	0.59377	0.864000	0.49448	-0.153000	0.10144	2.628000	0.89032	0.655000	0.94253	GTG		0.552	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		122	134	0	0	0	1	0	122	134					A	140249016	G	A	140249016	3	1	253	1	0	0	0	0	1	0	0	0	11521	1145	40	1	330	1	PCDHA11	5	140249016	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		140249016	40666244	11	28819											
DUSP22	56940	broad.mit.edu	37	chr6	348774	348774	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcctctccagtatcgGcagtggctgaaggaagaata	10	10	1	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:348774G>T	ENST00000344450.5	+	7	884	c.441G>T	c.(439-441)cgG>cgT	p.R147R	DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000604971.1_Silent_p.R44R|DUSP22_ENST00000419235.2_Silent_p.R147R|DUSP22_ENST00000603453.1_Silent_p.R44R|DUSP22_ENST00000605315.1_Silent_p.R44R	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	147					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCAGTATCGGCAGTGGCTGA	0.522																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(130-132)cgG>cgT		dual specificity phosphatase 22							162	146	151					6																	348774		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348774G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.441G>T	6.37:g.348774G>T						DUSP22_ENST00000605315.1_Silent_p.R44R|DUSP22_ENST00000419235.2_Silent_p.R147R|DUSP22_ENST00000603453.1_Silent_p.R44R|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Silent_p.R147R	p.R44R			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	1245	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	147					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.132G>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969510	0.18659	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.07	2.19	0.27852	.	.	.	.	.	T	0.43567	0.1253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33979	-0.9847	4	.	.	.	.	8.5656	0.33538	0.1315:0.2758:0.5927:0.0	.	.	.	.	S	85	.	.	A	+	1	0	DUSP22	293774	0.995000	0.38212	1.000000	0.80357	0.759000	0.43091	0.213000	0.17521	0.606000	0.29965	0.655000	0.94253	GCA		0.522	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		18	75	1	0	2.98393e-07	1	3.15283e-07	18	75					T	348774	G	T	348774	2	4	253	1	0	0	0	0	0	0	0	1	4821	1190	42	4		4	DUSP22	6	348774	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		348774	170766293	12	28820											
FIGNL1	63979	broad.mit.edu	37	chr7	50513534	50513534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcaacagcaaacaaTgcacggaccattttctcccc	5	16	1	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:50513534T>C	ENST00000419119.1	-	2	3005	c.1452A>G	c.(1450-1452)gcA>gcG	p.A484A	FIGNL1_ENST00000433017.1_Silent_p.A484A|FIGNL1_ENST00000395556.2_Silent_p.A484A|FIGNL1_ENST00000356889.4_Silent_p.A484A			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	484					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAGCAAACAATGCACGGACCA	0.443																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1450-1452)gcA>gcG		fidgetin-like 1							98	94	95					7																	50513534		2203	4300	6503	SO:0001819	synonymous_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513534T>C	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1452A>G	7.37:g.50513534T>C						FIGNL1_ENST00000356889.4_Silent_p.A484A|FIGNL1_ENST00000433017.1_Silent_p.A484A|FIGNL1_ENST00000395556.2_Silent_p.A484A	p.A484A			Q6PIW4	FIGL1_HUMAN			2	3005	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	484					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Silent	SNP	ENST00000419119.1	37	c.1452A>G	CCDS5510.1																																																																																				0.443	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		43	59	0	0	0	1	0	43	59					C	50513534	T	C	50513534	2	2	253	1	0	0	0	0	0	0	0	1	5892	1451	51	3		3	FIGNL1	7	50513534	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		50513534	108625129	13	28821											
ZNF138	7697	broad.mit.edu	37	chr7	64292367	64292367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataattcgtactggagaaaaAccctataaatgtgcacactg	7	8	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:64292367A>C	ENST00000359735.3	+	4	923	c.576A>C	c.(574-576)aaA>aaC	p.K192N	ZNF138_ENST00000437743.1_Missense_Mutation_p.K217N|ZNF138_ENST00000397136.2_Missense_Mutation_p.K192N|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.K249N|ZNF138_ENST00000440155.2_Missense_Mutation_p.K223N|ZNF138_ENST00000440598.1_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	192					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.K192K(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTGGAGAAAAACCCTATAAAT	0.368																																						ENST00000359735.3																			1	Substitution - coding silent(1)	p.K192K(1)	large_intestine(1)	kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7						c.(574-576)aaA>aaC		zinc finger protein 138							45	49	48					7																	64292367		2203	4299	6502	SO:0001583	missense	7697				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:64292367A>C	U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"Zinc fingers, C2H2-type", "-"	12922	protein-coding gene	gene with protein product		604080	"zinc finger protein 138 (clone pHZ-32)"				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.576A>C	7.37:g.64292367A>C	ENSP00000352770:p.Lys192Asn					ZNF138_ENST00000437743.1_Missense_Mutation_p.K217N|ZNF138_ENST00000440155.2_Missense_Mutation_p.K223N|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.K249N|ZNF138_ENST00000397136.2_Missense_Mutation_p.K192N|ZNF138_ENST00000440598.1_3'UTR	p.K192N	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN			4	923	+		Lung NSC(55;0.0795)|all_lung(88;0.18)	223					B4DFX2|B4DP87|E9PHI7|E9PHK7	Missense_Mutation	SNP	ENST00000359735.3	37	c.576A>C		.	.	.	.	.	.	.	.	.	.	.	12.39	1.925007	0.34002	.	.	ENSG00000197008	ENST00000307355;ENST00000359735;ENST00000440155;ENST00000437743;ENST00000397136	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	0.85	-0.454	0.12197	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42245	0.1194	M	0.72353	2.195	0.26014	N	0.981951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	T	0.21895	-1.0232	9	0.72032	D	0.01	.	3.786	0.08700	0.6826:0.0:0.3174:0.0	.	223;217;192	E9PHI7;E7EWC5;P52744	.;.;ZN138_HUMAN	N	249;192;223;217;192	ENSP00000303533:K249N;ENSP00000352770:K192N;ENSP00000407262:K223N;ENSP00000399528:K217N;ENSP00000380325:K192N	ENSP00000303533:K249N	K	+	3	2	ZNF138	63929802	0.110000	0.22057	0.013000	0.15412	0.013000	0.08279	0.118000	0.15605	0.166000	0.19597	0.164000	0.16699	AAA		0.368	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524		16	13	0	0	0	1	0	16	13					C	64292367	A	C	64292367	3	2	253	1	0	0	0	0	1	0	0	0	17724	40	2	5	902	5	ZNF138	7	64292367	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	13778833	64292367	94846296	14	28822											
SEMA3C	10512	broad.mit.edu	37	chr7	80374454	80374454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatggggaccatttgtccGtcacaacagccaccatttct	7	14	2	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:80374454G>A	ENST00000265361.3	-	18	2573	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	SEMA3C_ENST00000419255.2_Missense_Mutation_p.T671M|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T689M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	671					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATTTGTCCGTCACAACAGC	0.478																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2011-2013)aCg>aTg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							85	78	80					7																	80374454		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374454G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2012C>T	7.37:g.80374454G>A	ENSP00000265361:p.Thr671Met					SEMA3C_ENST00000419255.2_Missense_Mutation_p.T671M|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T689M	p.T671M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			18	2573	-			671					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.2012C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207937	0.39003	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26660	1.73;1.73;1.72	5.56	4.67	0.58626	.	0.195272	0.53938	D	0.000054	T	0.19604	0.0471	N	0.24115	0.695	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.24974	0.057;0.026	T	0.03673	-1.1014	10	0.41790	T	0.15	.	13.8331	0.63393	0.0732:0.0:0.9268:0.0	.	689;671	F5H1Z7;Q99985	.;SEM3C_HUMAN	M	671;671;689	ENSP00000265361:T671M;ENSP00000411193:T671M;ENSP00000445649:T689M	ENSP00000265361:T671M	T	-	2	0	SEMA3C	80212390	1.000000	0.71417	0.999000	0.59377	0.752000	0.42762	6.044000	0.71012	2.636000	0.89361	0.650000	0.86243	ACG		0.478	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		19	31	0	0	0	1	0	19	31					A	80374454	G	A	80374454	3	1	253	1	0	0	0	0	1	0	0	0	14026	1145	40	1	247	1	SEMA3C	7	80374454	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	16082087	80374454	78764209	15	28823											
JPH1	56704	broad.mit.edu	37	chr8	75171665	75171665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggccacagctctcgCgatgtcgcactcctggcgag	11	17	1	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:75171665C>T	ENST00000342232.4	-	3	1253	c.1213G>A	c.(1213-1215)Gcg>Acg	p.A405T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	405	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACAGCTCTCGCGATGTCGCAC	0.607																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1213-1215)Gcg>Acg		junctophilin 1							47	50	49					8																	75171665		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171665C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1213G>A	8.37:g.75171665C>T	ENSP00000344488:p.Ala405Thr						p.A405T	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1253	-	Breast(64;0.00576)		405			Ala-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1213G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360880	0.95877	.	.	ENSG00000104369	ENST00000342232	T	0.76839	-1.05	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.86097	2.795	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	D	0.90515	0.4484	10	0.87932	D	0	.	17.7907	0.88551	0.0:1.0:0.0:0.0	.	405	Q9HDC5	JPH1_HUMAN	T	405	ENSP00000344488:A405T	ENSP00000344488:A405T	A	-	1	0	JPH1	75334219	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	6.390000	0.73204	2.809000	0.96659	0.655000	0.94253	GCG		0.607	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			18	22	0	0	0	1	0	18	22					T	75171665	C	T	75171665	3	4	253	1	0	0	0	0	1	0	0	0	7960	768	27	1	784	1	JPH1	8	75171665	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		75171665	71192357	16	28824											
NUDCD1	84955	broad.mit.edu	37	chr8	110287672	110287672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgtttatctccaattActagctctggccaggtcagt	7	13	3	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:110287672A>C	ENST00000239690.4	-	7	1456	c.1082T>G	c.(1081-1083)gTa>gGa	p.V361G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.V332G	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTCCAATTACTAGCTCTGG	0.383																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(1081-1083)gTa>gGa		NudC domain containing 1							121	117	118					8																	110287672		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110287672A>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1082T>G	8.37:g.110287672A>C	ENSP00000239690:p.Val361Gly					NUDCD1_ENST00000427660.2_Missense_Mutation_p.V332G	p.V361G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		7	1456	-	all_neural(195;0.219)		361			CS.			Missense_Mutation	SNP	ENST00000239690.4	37	c.1082T>G	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357869	0.82243	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.78003	-1.14;-1.14	6.07	6.07	0.98685	CS-like domain (1);HSP20-like chaperone (1);	0.319686	0.33534	N	0.004802	D	0.87350	0.6155	M	0.79123	2.44	0.40632	D	0.98186	D;P;D	0.60575	0.988;0.884;0.973	D;P;P	0.63703	0.917;0.678;0.886	D	0.89214	0.3566	10	0.87932	D	0	-5.2419	15.8218	0.78654	1.0:0.0:0.0:0.0	.	274;361;332	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	G	361;332	ENSP00000239690:V361G;ENSP00000410707:V332G	ENSP00000239690:V361G	V	-	2	0	NUDCD1	110356848	0.880000	0.30214	0.130000	0.21974	0.984000	0.73092	7.529000	0.81952	2.326000	0.78906	0.533000	0.62120	GTA		0.383	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		10	21	0	0	0	1	0	10	21					C	110287672	A	C	110287672	3	2	253	1	0	0	0	0	1	0	0	0	10722	391	14	5	685	5	NUDCD1	8	110287672	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	35116007	110287672	36076350	17	28825											
EPPK1	83481	broad.mit.edu	37	chr8	144940576	144940576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccacggcctcctccacCgacagcctcaggttgcgcac	11	19	1	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:144940576C>T	ENST00000525985.1	-	2	6917	c.6846G>A	c.(6844-6846)tcG>tcA	p.S2282S				P58107	EPIPL_HUMAN	epiplakin 1	2282						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)			CCTCCTCCACCGACAGCCTCA	0.736																																						ENST00000525985.1																			0				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						c.(6844-6846)tcG>tcA		epiplakin 1							58	55	56					8																	144940576		2162	4237	6399	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940576C>T	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.6846G>A	8.37:g.144940576C>T							p.S2282S			P58107	EPIPL_HUMAN	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)		2	6917	-	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)		2282					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6846G>A																																																																																					0.736	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	64	0	0	0	1	0	3	64					T	144940576	C	T	144940576	2	4	253	1	0	0	0	0	0	0	0	1	5190	639	23	1		1	EPPK1	8	144940576	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	34652904	144940576	1423446	18	28826											
ZFP37	7539	broad.mit.edu	37	chr9	115811700	115811700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggacaaccttgactgggTcttttccccttccccaacca	6	16	1	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:115811700T>C	ENST00000374227.3	-	3	318	c.291A>G	c.(289-291)agA>agG	p.R97R	ZFP37_ENST00000553380.1_Silent_p.R112R|ZFP37_ENST00000555206.1_Silent_p.R98R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	97	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTGACTGGGTCTTTTCCCCT	0.403																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(289-291)agA>agG		ZFP37 zinc finger protein							125	122	123					9																	115811700		2203	4300	6503	SO:0001819	synonymous_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115811700T>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.291A>G	9.37:g.115811700T>C						ZFP37_ENST00000555206.1_Silent_p.R98R|ZFP37_ENST00000553380.1_Silent_p.R112R	p.R97R			Q9Y6Q3	ZFP37_HUMAN			3	318	-			97			KRAB.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	c.291A>G	CCDS6787.1																																																																																				0.403	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		22	6	0	0	0	1	0	22	6					C	115811700	T	C	115811700	2	2	253	1	0	0	0	0	0	0	0	1	17645	1664	58	3		3	ZFP37	9	115811700	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		115811700	25401731	19	28827											
DDX31	64794	broad.mit.edu	37	chr9	135522404	135522404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaggacagaaatacTgactggatcatgcaaactga	9	9	1	3	rs562635248		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:135522404T>C	ENST00000372159.3	-	12	1475	c.1324A>G	c.(1324-1326)Agt>Ggt	p.S442G	DDX31_ENST00000372153.1_Missense_Mutation_p.S442G|DDX31_ENST00000438527.3_Missense_Mutation_p.S313G|DDX31_ENST00000310532.2_Missense_Mutation_p.S442G	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	442	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACAGAAATACTGACTGGATCA	0.493																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1324-1326)Agt>Ggt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							98	88	92					9																	135522404		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135522404T>C	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1324A>G	9.37:g.135522404T>C	ENSP00000361232:p.Ser442Gly					DDX31_ENST00000372153.1_Missense_Mutation_p.S442G|DDX31_ENST00000438527.3_Missense_Mutation_p.S313G|DDX31_ENST00000310532.2_Missense_Mutation_p.S442G	p.S442G	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	12	1475	-			442			Helicase ATP-binding.		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1324A>G	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.273670	0.40194	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.42131	4.38;0.98;4.32;0.98	5.46	4.3	0.51218	DEAD-like helicase (2);	0.190725	0.64402	D	0.000004	T	0.43986	0.1272	L	0.32530	0.975	0.80722	D	1	P;P	0.52170	0.951;0.839	P;B	0.53224	0.721;0.2	T	0.34625	-0.9821	10	0.56958	D	0.05	-1.8117	11.9434	0.52913	0.0:0.0:0.1454:0.8546	.	442;442	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	G	442;442;442;313;442	ENSP00000361232:S442G;ENSP00000361226:S442G;ENSP00000387730:S313G;ENSP00000310539:S442G	ENSP00000310539:S442G	S	-	1	0	DDX31	134512225	1.000000	0.71417	0.988000	0.46212	0.789000	0.44602	2.720000	0.47252	0.879000	0.35944	0.533000	0.62120	AGT		0.493	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		31	44	0	0	0	1	0	31	44					C	135522404	T	C	135522404	3	2	253	1	0	0	0	0	1	0	0	0	4356	1580	55	3	1274	3	DDX31	9	135522404	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	19710704	135522404	5691027	20	28828											
ANK3	288	broad.mit.edu	37	chr10	61958113	61958113	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacctttgttgttatagaTaaagacgctccatgatccaa	6	9	0	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr10:61958113T>C	ENST00000280772.2	-	14	1865	c.1674A>G	c.(1672-1674)ttA>ttG	p.L558L	ANK3_ENST00000503366.1_Silent_p.L541L|ANK3_ENST00000373827.2_Silent_p.L552L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	558					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						TTGTTATAGATAAAGACGCTC	0.498																																						ENST00000280772.1																			0				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						c.(1672-1674)ttA>ttG		ankyrin 3, node of Ranvier (ankyrin G)							77	79	78					10																	61958113		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61958113T>C	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.1674A>G	10.37:g.61958113T>C						ANK3_ENST00000373827.2_Silent_p.L552L|ANK3_ENST00000503366.1_Silent_p.L541L	p.L558L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			14	1865	-			558					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.1674A>G	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		11	15	0	0	0	1	0	11	15					C	61958113	T	C	61958113	2	2	253	1	0	0	0	0	0	0	0	1	622	1403	49	3		3	ANK3	10	61958113	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		61958113	73576634	21	28829											
OR2AG2	338755	broad.mit.edu	37	chr11	6789589	6789589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagtcacacctgtcacGtatattataagctcatacct	6	10	3	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200						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)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(598-600)taC>taT		olfactory receptor, family 2, subfamily AG, member 2							95	86	89					11																	6789589		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789589G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.600C>T	11.37:g.6789589G>A							p.Y200Y	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	697	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	200						Silent	SNP	ENST00000338569.2	37	c.600C>T	CCDS31413.1																																																																																				0.493	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		10	15	0	0	0	1	0	10	15					A	6789589	G	A	6789589	2	1	253	1	0	0	0	0	0	0	0	1	10985	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		6789589	128216927	22	28830											
SIPA1	6494	broad.mit.edu	37	chr11	65408733	65408733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaccagtgcttgagcctcGatggtttgcccactatgacg	10	14	0	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:65408733G>A	ENST00000394224.3	+	2	637	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SIPA1_ENST00000394227.3_Missense_Mutation_p.R114Q|SIPA1_ENST00000527525.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000534313.1_Missense_Mutation_p.R114Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	114					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTTGAGCCTCGATGGTTTGCC	0.632																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(340-342)cGa>cAa		signal-induced proliferation-associated 1							81	82	81					11																	65408733		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408733G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.341G>A	11.37:g.65408733G>A	ENSP00000377771:p.Arg114Gln					SIPA1_ENST00000534313.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.R114Q|SIPA1_ENST00000527525.1_Missense_Mutation_p.R114Q	p.R114Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	637	+			114					O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.341G>A	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480582	0.63849	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.83335	-1.69;-1.71;-1.69;-1.71	5.05	4.14	0.48551	.	0.116963	0.28977	U	0.013540	T	0.77377	0.4121	L	0.57536	1.79	0.38847	D	0.956192	P;P	0.39696	0.683;0.555	B;B	0.32864	0.154;0.073	T	0.80190	-0.1485	10	0.72032	D	0.01	-8.3935	11.535	0.50633	0.0888:0.0:0.9112:0.0	.	114;114	F6RY50;Q96FS4	.;SIPA1_HUMAN	Q	114	ENSP00000436269:R114Q;ENSP00000433686:R114Q;ENSP00000377771:R114Q;ENSP00000377774:R114Q	ENSP00000377771:R114Q	R	+	2	0	SIPA1	65165309	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.214000	0.58527	1.274000	0.44362	0.561000	0.74099	CGA		0.632	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		52	75	0	0	0	1	0	52	75					A	65408733	G	A	65408733	3	1	253	1	0	0	0	0	1	0	0	0	14328	1058	37	1	343	1	SIPA1	11	65408733	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	58619144	65408733	69597783	23	28831											
PLEKHA5	54477	broad.mit.edu	37	chr12	19489486	19489486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagaatatgataagttagAatacgatgtaactgttacca	9	4	0	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:19489486A>C	ENST00000299275.6	+	16	2183	c.2177A>C	c.(2176-2178)gAa>gCa	p.E726A	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E726A|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E784A|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E484A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E829A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E726A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E657A|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E784A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E645A	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	726					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)					GATAAGTTAGAATACGATGTA	0.348																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				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						c.(2350-2352)gAa>gCa		pleckstrin homology domain containing, family A member 5							104	107	106					12																	19489486		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19489486A>C	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.2177A>C	12.37:g.19489486A>C	ENSP00000299275:p.Glu726Ala					PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E484A|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E726A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E645A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E726A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E657A|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E784A|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E726A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E829A	p.E784A	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			18	2355	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		726					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2351A>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116830	0.77323	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.78	4.78	0.61160	.	0.102292	0.64402	D	0.000004	T	0.42675	0.1213	M	0.86651	2.83	0.42385	D	0.9925	D;D;D;D;D;D;D;D	0.89917	1.0;0.984;0.985;0.999;0.998;0.995;0.991;0.991	D;P;P;D;D;P;P;P	0.91635	0.999;0.784;0.831;0.995;0.946;0.809;0.783;0.892	T	0.52320	-0.8591	10	0.87932	D	0	-14.7473	13.9686	0.64225	1.0:0.0:0.0:0.0	.	726;645;657;829;726;829;726;784	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	A	726;784;726;830;829;726;484;784;657;645;618;63	ENSP00000325155:E726A;ENSP00000347560:E784A;ENSP00000352104:E726A;ENSP00000404296:E829A;ENSP00000299275:E726A;ENSP00000440611:E484A;ENSP00000439673:E784A;ENSP00000400411:E657A;ENSP00000439837:E645A;ENSP00000440371:E618A;ENSP00000443553:E63A	ENSP00000299275:E726A	E	+	2	0	PLEKHA5	19380753	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.316000	0.72857	1.789000	0.52484	0.383000	0.25322	GAA		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		20	28	0	0	0	1	0	20	28					C	19489486	A	C	19489486	3	2	253	1	0	0	0	0	1	0	0	0	12059	246	9	5	2364	5	PLEKHA5	12	19489486	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08		19489486	114362409	24	28832											
KCNJ8	3764	broad.mit.edu	37	chr12	21926252	21926252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgtaagcatagatgTccccatgggcaaaggccacc	9	13	1	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:21926252T>C	ENST00000240662.2	-	2	644	c.299A>G	c.(298-300)gAc>gGc	p.D100G		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	100					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)	AGCATAGATGTCCCCATGGGC	0.507											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(298-300)gAc>gGc		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						116	105	109					12																	21926252		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21926252T>C	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.299A>G	12.37:g.21926252T>C	ENSP00000240662:p.Asp100Gly		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.D100G	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			2	644	-			100					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.299A>G	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395959	0.62177	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.97114	-4.25;-4.25	4.44	4.44	0.53790	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.237081	0.41500	D	0.000878	D	0.96636	0.8902	M	0.85299	2.745	0.58432	D	0.999999	B	0.31655	0.334	B	0.32805	0.153	D	0.96937	0.9685	10	0.72032	D	0.01	.	13.8791	0.63672	0.0:0.0:0.0:1.0	.	100	Q15842	IRK8_HUMAN	G	100	ENSP00000240662:D100G;ENSP00000440012:D100G	ENSP00000240662:D100G	D	-	2	0	KCNJ8	21817519	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.854000	0.86942	1.868000	0.54150	0.383000	0.25322	GAC		0.507	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		33	34	0	0	0	1	0	33	34					C	21926252	T	C	21926252	3	2	253	1	0	0	0	0	1	0	0	0	8056	1667	58	3	983	3	KCNJ8	12	21926252	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	2436766	21926252	111925643	25	28833											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	74	0	0	0	1	0	6	74					A	57111705	G	A	57111705	2	1	253	1	0	0	0	0	0	0	0	1	10133	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08	35185453	57111705	76740190	26	28834											
LRRK1	79705	broad.mit.edu	37	chr15	101588788	101588788	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaatcgctgtagcacAttcagagtgaaaagaaatca	9	7	2	4			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr15:101588788A>G	ENST00000388948.3	+	22	3584	c.3225A>G	c.(3223-3225)acA>acG	p.T1075T	LRRK1_ENST00000284395.5_Silent_p.T1072T|RP11-505E24.3_ENST00000558979.1_RNA|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)			GCTGTAGCACATTCAGAGTGA	0.448																																						ENST00000284395.5																			0				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						c.(3214-3216)acA>acG		leucine-rich repeat kinase 1							127	127	127					15																	101588788		1892	4128	6020	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101588788A>G	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.3225A>G	15.37:g.101588788A>G						RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Silent_p.T1075T	p.T1072T			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		23	3616	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1075						Silent	SNP	ENST00000388948.3	37	c.3216A>G	CCDS42086.1																																																																																				0.448	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		45	28	0	0	0	1	0	45	28					G	101588788	A	G	101588788	2	3	253	1	0	0	0	0	0	0	0	1	9032	204	8	3		3	LRRK1	15	101588788	Silent	SNP	A	TCGA-HT-7606-01A-11D-2086-08		101588788	942604	27	28835											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	0	0	0	0	1	0	8	0					A	7577121	G	A	7577121	3	1	253	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		7577121	73618089	28	28836											
GAS2L2	246176	broad.mit.edu	37	chr17	34079638	34079638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcctcagccaggaaggCcagggcagcgtcagtgacaa	15	11	2	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:34079638C>T	ENST00000254466.6	-	1	259	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A78T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		GCCAGGAAGGCCAGGGCAGCG	0.652																																						ENST00000254466.6																			0				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						c.(232-234)Gcc>Acc		growth arrest-specific 2 like 2							74	65	68					17																	34079638		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079638C>T	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.232G>A	17.37:g.34079638C>T	ENSP00000254466:p.Ala78Thr					GAS2L2_ENST00000587565.1_Missense_Mutation_p.A78T	p.A78T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	259	-		Ovarian(249;0.17)	78			CH.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.232G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139724	0.77775	.	.	ENSG00000132139	ENST00000254466;ENST00000359507	T	0.41758	0.99	5.46	5.46	0.80206	Calponin homology domain (5);	0.199649	0.41500	D	0.000866	T	0.51991	0.1707	L	0.34521	1.04	0.50632	D	0.999887	D	0.71674	0.998	D	0.69824	0.966	T	0.26780	-1.0093	10	0.15066	T	0.55	-27.4173	18.4678	0.90762	0.0:1.0:0.0:0.0	.	78	Q8NHY3	GA2L2_HUMAN	T	78	ENSP00000254466:A78T	ENSP00000254466:A78T	A	-	1	0	GAS2L2	31103751	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.592000	0.61027	2.847000	0.97988	0.591000	0.81541	GCC		0.652	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		21	30	0	0	0	1	0	21	30					T	34079638	C	T	34079638	3	4	253	1	0	0	0	0	1	0	0	0	6247	739	26	2	2434	2	GAS2L2	17	34079638	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	26502517	34079638	47115572	29	28837											
HELZ	9931	broad.mit.edu	37	chr17	65174991	65174991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttagaggaagaatcccaaCgtttagctgtggttactagc	10	8	1	2	rs374896136		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:65174991C>T	ENST00000358691.5	-	13	1380	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	HELZ_ENST00000580168.1_Missense_Mutation_p.R405H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	405						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)					AGAATCCCAACGTTTAGCTGT	0.348																																						ENST00000358691.5																			0				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						c.(1213-1215)cGt>cAt		helicase with zinc finger		C	HIS/ARG	0,3662		0,0,1831	107	104	105		1214	6.1	1	17		105	1,8173		0,1,4086	no	missense	HELZ	NM_014877.3	29	0,1,5917	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	405/1943	65174991	1,11835	1831	4087	5918	SO:0001583	missense	9931							g.chr17:65174991C>T	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.1214G>A	17.37:g.65174991C>T	ENSP00000351524:p.Arg405His					HELZ_ENST00000580168.1_Missense_Mutation_p.R405H	p.R405H	NM_014877.3	NP_055692.2					13	1380	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1214G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454312	0.63290	0.0	1.22E-4	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.85702	-2.02;1.15	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	L	0.44542	1.39	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.73380	0.98;0.475	D	0.89573	0.3815	10	0.56958	D	0.05	-16.4745	20.6525	0.99598	0.0:1.0:0.0:0.0	.	405;405	B7ZLW2;P42694	.;HELZ_HUMAN	H	405	ENSP00000351524:R405H;ENSP00000411144:R405H	ENSP00000351524:R405H	R	-	2	0	HELZ	62605453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.385000	0.79763	2.890000	0.99128	0.585000	0.79938	CGT		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		14	24	0	0	0	1	0	14	24					T	65174991	C	T	65174991	3	4	253	1	0	0	0	0	1	0	0	0	7049	536	19	1	4698	1	HELZ	17	65174991	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	31095353	65174991	16020219	30	28838											
SMARCA4	6597	broad.mit.edu	37	chr19	11132434	11132434	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatgattgtggacgaaggtCaccgcatgaagaaccaccac	10	11	1	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:11132434C>A	ENST00000429416.3	+	20	2931	c.2650C>A	c.(2650-2652)Cac>Aac	p.H884N	SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000358026.2_Missense_Mutation_p.H884N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884N	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	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)				GGACGAAGGTCACCGCATGAA	0.622			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(2650-2652)Cac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							81	64	70					19																	11132434		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132434C>A	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.2650C>A	19.37:g.11132434C>A	ENSP00000395654:p.His884Asn					SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884N	p.H884N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	2934	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	884			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2650C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597075	0.87055	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	4.66	4.66	0.58398	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.996;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.992;0.992;0.992;0.992;0.953;0.999;0.992;0.992	D	0.98427	1.0580	10	0.87932	D	0	-53.571	16.4906	0.84200	0.0:1.0:0.0:0.0	.	884;884;884;884;884;104;884;884	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	N	884;884;948;884;884;884;884;884	ENSP00000395654:H884N;ENSP00000350720:H884N;ENSP00000343896:H884N;ENSP00000445036:H884N;ENSP00000392837:H884N;ENSP00000397783:H884N;ENSP00000414727:H884N	ENSP00000343896:H884N	H	+	1	0	SMARCA4	10993434	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.651000	0.83577	2.425000	0.82216	0.655000	0.94253	CAC		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		13	16	1	0	6.72482e-11	1	7.38412e-11	13	16					A	11132434	C	A	11132434	3	1	253	1	0	0	0	0	1	0	0	0	14770	826	29	4	2720	4	SMARCA4	19	11132434	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		11132434	47996549	31	28839											
EPS15L1	58513	broad.mit.edu	37	chr19	16487940	16487940	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttactgaccgctgggCggtttaggccgtggaggagc	16	9	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:16487940C>T	ENST00000248070.6	-	22	2512	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron|EPS15L1_ENST00000455140.2_Silent_p.P791P	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	791	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GACCGCTGGGCGGTTTAGGCC	0.612											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000455140.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(2371-2373)ccG>ccA		epidermal growth factor receptor pathway substrate 15-like 1							99	101	100					19																	16487940		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16487940C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2373G>A	19.37:g.16487940C>T			OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	710	EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000248070.6_Silent_p.P791P|EPS15L1_ENST00000594975.1_Intron	p.P791P	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN			22	2439	-			791			15 X 3 AA repeats of D-P-F.|Pro-rich.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.2373G>A	CCDS32944.1																																																																																				0.612	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		12	19	0	0	0	1	0	12	19					T	16487940	C	T	16487940	2	4	253	1	0	0	0	0	0	0	0	1	5193	755	27	1		1	EPS15L1	19	16487940	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	5355506	16487940	42641043	32	28840											
SLC25A1	6576	broad.mit.edu	37	chr22	19164192	19164192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcagagggttcatgggctTgttggggttgtcccctggat	16	7	2	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr22:19164192T>G	ENST00000215882.5	-	7	802	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	CLTCL1_ENST00000442042.2_5'Flank|SLC25A1_ENST00000451283.1_Missense_Mutation_p.K113Q|SLC25A1_ENST00000461267.1_5'UTR	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	216					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTCATGGGCTTGTTGGGGTTG	0.592																																						ENST00000215882.5																			0				cervix(1)|lung(1)	2						c.(646-648)Aag>Cag		solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1							40	45	43					22																	19164192		2203	4300	6503	SO:0001583	missense	6576				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding	g.chr22:19164192T>G	U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"Solute carriers"	10979	protein-coding gene	gene with protein product		190315	"solute carrier family 20 (mitochondrial citrate transporter), member 3"	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.646A>C	22.37:g.19164192T>G	ENSP00000215882:p.Lys216Gln					SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.K113Q	p.K216Q	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN		Lung(27;0.124)	7	802	-	Colorectal(54;0.0993)	all_lung(157;9.94e-09)	216					A8K8E8|Q9BSK6	Missense_Mutation	SNP	ENST00000215882.5	37	c.646A>C	CCDS13758.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258388	0.59321	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.78924	-1.22;-1.22	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.183953	0.48286	D	0.000199	T	0.74627	0.3741	L	0.38531	1.155	0.80722	D	1	P;B	0.41159	0.74;0.287	P;B	0.44673	0.457;0.292	T	0.75502	-0.3295	10	0.44086	T	0.13	-5.8507	15.5644	0.76277	0.0:0.0:0.0:1.0	.	223;216	D9HTE9;P53007	.;TXTP_HUMAN	Q	216;113	ENSP00000215882:K216Q;ENSP00000401480:K113Q	ENSP00000215882:K216Q	K	-	1	0	SLC25A1	17544192	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	6.152000	0.71812	2.068000	0.61886	0.379000	0.24179	AAG		0.592	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1	NM_005984		11	21	0	0	0	1	0	11	21					G	19164192	T	G	19164192	3	3	253	1	0	0	0	0	1	0	0	0	14471	1821	63	5	301	5	SLC25A1	22	19164192	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		19164192	32140374	33	28841											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:50350672_50350674delTCT	ENST00000289292.7	-	6	3751_3753	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				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)	p.E1156E(1)		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)					TGGCAGctcctcttcctcctcct	0.557																																						ENST00000376020.2																			1	Substitution - coding silent(1)	p.E1156E(1)	skin(1)	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						c.(3466-3471)gag>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350672_50350674delTCT	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.3468_3470delAGA	X.37:g.50350672_50350674delTCT	ENSP00000289292:p.Glu1158del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del	p.EE1156del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3493_3495	-	Ovarian(276;0.236)		1156			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3468_3470delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		3	6						3	6	---	---	---	---	-	50350674	TCT	-	50350672	7	5	253	1	0	1	0	1	0	0	0	0	14296	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HT-7606-01A-11D-2086-08		50350672	104919888	34	28842											
GSPT2	23708	broad.mit.edu	37	chrX	51488448	51488448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagacacgaccccgcttcGtgaaacaagatcaagtatgc	9	11	1	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:51488448G>A	ENST00000340438.4	+	1	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	576					cell cycle (GO:0007049)|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)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1726-1728)Gtg>Atg		G1 to S phase transition 2							102	89	94					X																	51488448		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488448G>A	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1726G>A	X.37:g.51488448G>A	ENSP00000341247:p.Val576Met						p.V576M	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	1968	+	Ovarian(276;0.236)		576					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1726G>A	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278888	0.59758	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.35421	1.31	4.75	4.75	0.60458	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66666	-0.5866	10	0.87932	D	0	-9.2185	14.5557	0.68100	0.0:0.0:1.0:0.0	.	576	Q8IYD1	ERF3B_HUMAN	M	576;493	ENSP00000341247:V576M	ENSP00000341247:V576M	V	+	1	0	GSPT2	51505188	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	7.141000	0.77330	2.615000	0.88500	0.596000	0.82720	GTG		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			20	15	0	0	0	1	0	20	15					A	51488448	G	A	51488448	3	1	253	1	0	0	0	0	1	0	0	0	6827	1145	40	1	1728	1	GSPT2	23	51488448	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	1137776	51488448	103782112	35	28843											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912924	77912924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaccctccccttggcagaGttgatggatgcactggttgg	13	10	0	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:77912924G>T	ENST00000321110.1	-	2	1289	c.994C>A	c.(994-996)Ctc>Atc	p.L332I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	332							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						CCTTGGCAGAGTTGATGGATG	0.463																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(994-996)Ctc>Atc		zinc finger, CCHC domain containing 5							73	61	65					X																	77912924		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912924G>T	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.994C>A	X.37:g.77912924G>T	ENSP00000316794:p.Leu332Ile						p.L332I	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1289	-			332					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.994C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469828	0.12461	.	.	ENSG00000179300	ENST00000321110	T	0.40476	1.03	3.2	1.42	0.22433	.	0.214672	0.20878	U	0.084053	T	0.45074	0.1324	L	0.54323	1.7	0.09310	N	1	D	0.65815	0.995	P	0.56474	0.799	T	0.24012	-1.0172	10	0.41790	T	0.15	.	4.7244	0.12935	0.3088:0.0:0.6912:0.0	.	332	Q8N8U3	ZCHC5_HUMAN	I	332	ENSP00000316794:L332I	ENSP00000316794:L332I	L	-	1	0	ZCCHC5	77799580	0.879000	0.30193	0.074000	0.20217	0.017000	0.09413	1.625000	0.37029	0.240000	0.21263	-0.322000	0.08575	CTC		0.463	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	18	1	0	2.74318e-10	1	2.95419e-10	9	18					T	77912924	G	T	77912924	3	4	253	1	0	0	0	0	1	0	0	0	17588	1029	36	4	437	4	ZCCHC5	23	77912924	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	26424476	77912924	77357636	36	28844											
RBM41	55285	broad.mit.edu	37	chrX	106331986	106331986	+	Frame_Shift_Del	DEL	C	C	-													tctcataagttgaaactcttCaagacgttttttcattatca							TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:106331986delC	ENST00000372479.3	-	5	637	c.607delG	c.(607-609)gaafs	p.E204fs	RBM41_ENST00000372487.1_Frame_Shift_Del_p.E204fs|RBM41_ENST00000203616.8_Frame_Shift_Del_p.E228fs	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	204							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAAACTCTTCAAGACGTTTT	0.428																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(607-609)aafs		RNA binding motif protein 41							108	94	99					X																	106331986		2203	4300	6503	SO:0001589	frameshift_variant	55285						nucleotide binding|RNA binding	g.chrX:106331986delC	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.607delG	X.37:g.106331986delC	ENSP00000361557:p.Glu204fs					RBM41_ENST00000372479.3_Frame_Shift_Del_p.E204fs|RBM41_ENST00000203616.8_Frame_Shift_Del_p.E228fs	p.E204fs	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			5	633	-			204					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Frame_Shift_Del	DEL	ENST00000372479.3	37	c.607delG	CCDS14526.1																																																																																				0.428	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		15	27						15	27	---	---	---	---	-	106331986	C	-	106331986	7	5	253	1	0	1	0	1	0	0	0	0	13135	835	29	0	655	0	RBM41	23	106331986	Frame_Shift_Del	DEL	C	TCGA-HT-7606-01A-11D-2086-08	28419062	106331986	48938574	37	28845											
ODZ1	10178	broad.mit.edu	37	chrX	123525932	123525932	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggtatagctccaaattttCccatcagcccaagttcttga	6	11	2	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:123525932C>T	ENST00000371130.3	-	27	5700	c.5637G>A	c.(5635-5637)ggG>ggA	p.G1879G	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.G1886G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1879					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)										TCCAAATTTTCCCATCAGCCC	0.378																																						ENST00000422452.2																			0											c.(5656-5658)ggG>ggA		teneurin transmembrane protein 1							78	65	69					X																	123525932		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123525932C>T	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.5637G>A	X.37:g.123525932C>T						STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G1879G	p.G1886G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					28	5721	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.5658G>A	CCDS14609.1																																																																																				0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		9	7	0	0	0	1	0	9	7					T	123525932	C	T	123525932	2	4	253	1	0	0	0	0	0	0	0	1	10834	842	30	2		2	ODZ1	23	123525932	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	17193946	123525932	31744628	38	28846											
PHF13	148479	broad.mit.edu	37	chr1	6681634	6681634	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaaagtgccgggactcCaagtttgacatccgccgttc	10	13	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:6681634C>G	ENST00000377648.4	+	4	1222	c.840C>G	c.(838-840)tcC>tcG	p.S280S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	280					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)		GCCGGGACTCCAAGTTTGACA	0.577																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(838-840)tcC>tcG		PHD finger protein 13							65	59	61					1																	6681634		2203	4300	6503	SO:0001819	synonymous_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6681634C>G	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.840C>G	1.37:g.6681634C>G						PHF13_ENST00000495385.1_Intron	p.S280S	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		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)	4	1222	+	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)	280					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Silent	SNP	ENST00000377648.4	37	c.840C>G	CCDS85.1																																																																																				0.577	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		16	68	0	0	0	1	0	16	68					G	6681634	C	G	6681634	2	3	254	1	0	0	0	0	0	0	0	1	11824	581	21	4		4	PHF13	1	6681634	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		6681634	242568987	1	28847											
CLDN19	149461	broad.mit.edu	37	chr1	43204166	43204166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgctgtctcccacccgcGtacacttcatgccaactacg	8	16	2	0	rs200640147		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:43204166G>A	ENST00000296387.1	-	2	504	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CLDN19_ENST00000539749.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	105					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCACCCGCGTACACTTCAT	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15876	0.0		0.0	False		,,,				2504	0.0					ENST00000539749.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(313-315)aCg>aTg		claudin 19							106	87	94					1																	43204166		2203	4300	6503	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43204166G>A	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"Claudins"	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.314C>T	1.37:g.43204166G>A	ENSP00000296387:p.Thr105Met					CLDN19_ENST00000296387.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M	p.T105M	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN			2	504	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	105					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.314C>T	CCDS471.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.1	3.940825	0.73557	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.88201	-2.35;-2.35;-2.35	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.87097	2.86	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	P;P;P	0.62435	0.897;0.74;0.902	D	0.94552	0.7754	10	0.49607	T	0.09	.	15.5483	0.76126	0.0:0.0:1.0:0.0	.	105;105;105	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	M	105	ENSP00000296387:T105M;ENSP00000443229:T105M;ENSP00000361617:T105M	ENSP00000296387:T105M	T	-	2	0	CLDN19	42976753	1.000000	0.71417	0.976000	0.42696	0.766000	0.43426	9.599000	0.98280	2.266000	0.75297	0.313000	0.20887	ACG		0.637	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		3	46	0	0	0	1	0	3	46					A	43204166	G	A	43204166	3	1	254	1	0	0	0	0	1	0	0	0	3480	1145	40	1	492	1	CLDN19	1	43204166	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	36522532	43204166	206046455	2	28848											
C1orf106	55765	broad.mit.edu	37	chr1	200880683	200880683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagattcctgctttccCgcgaccaagcccccgctgcc	9	19	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:200880683C>T	ENST00000367342.4	+	9	1517	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C1orf106_ENST00000413687.2_Silent_p.P354P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTGCTTTCCCGCGACCAAGC	0.682																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1315-1317)ccC>ccT		chromosome 1 open reading frame 106							87	105	99					1																	200880683		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200880683C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1317C>T	1.37:g.200880683C>T						C1orf106_ENST00000413687.2_Silent_p.P354P	p.P439P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1517	+			439					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1317C>T																																																																																					0.682	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		32	192	0	0	0	1	0	32	192					T	200880683	C	T	200880683	2	4	254	1	0	0	0	0	0	0	0	1	1980	639	23	1		1	C1orf106	1	200880683	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	157676517	200880683	48369938	3	28849											
UGGT1	56886	broad.mit.edu	37	chr2	128917277	128917277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcaggagctgacattGcggagttctctgttggggta	16	7	1	1	rs141470228	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:128917277G>A	ENST00000259253.6	+	23	2592	c.2545G>A	c.(2545-2547)Gcg>Acg	p.A849T	UGGT1_ENST00000375990.3_Missense_Mutation_p.A825T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	849					'de novo' posttranslational protein folding (GO:0051084)|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 lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTGACATTGCGGAGTTCTC	0.567																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2473-2475)Gcg>Acg		UDP-glucose glycoprotein glucosyltransferase 1							71	74	73					2																	128917277		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128917277G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2545G>A	2.37:g.128917277G>A	ENSP00000259253:p.Ala849Thr					UGGT1_ENST00000259253.6_Missense_Mutation_p.A849T	p.A825T			Q9NYU2	UGGG1_HUMAN			23	2876	+			849					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2473G>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170510	0.38315	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08102	3.14;3.13	5.4	-2.16	0.07080	.	1.070000	0.07070	N	0.835266	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46190	-0.9209	9	.	.	.	.	7.9592	0.30062	0.5569:0.0:0.3295:0.1136	.	825;849	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	T	825;849	ENSP00000365158:A825T;ENSP00000259253:A849T	.	A	+	1	0	UGGT1	128633747	0.000000	0.05858	0.000000	0.03702	0.686000	0.39977	-0.046000	0.11983	-0.411000	0.07530	0.557000	0.71058	GCG		0.567	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		16	69	0	0	0	1	0	16	69					A	128917277	G	A	128917277	3	1	254	1	0	0	0	0	1	0	0	0	16938	1319	46	2	2635	2	UGGT1	2	128917277	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		128917277	114282096	4	28850											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	92	0	0	0	1	0	16	92					T	209113112	C	T	209113112	3	4	254	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	80195835	209113112	34086261	5	28851											
VIL1	7429	broad.mit.edu	37	chr2	219296838	219296838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggccacttctatgggggcGactgctacctgctgctctac	11	13	2	0	rs371206014		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:219296838G>A	ENST00000248444.5	+	12	1361	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	VIL1_ENST00000392114.2_Missense_Mutation_p.D114N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	425	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.D425Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592																																						ENST00000248444.5																			1	Substitution - Missense(1)	p.D425Y(1)	lung(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1273-1275)Gac>Aac		villin 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	95	72	80		1273	3.6	0.8	2		80	3,8597	3.0+/-9.4	0,3,4297	no	missense	VIL1	NM_007127.2	23	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	425/828	219296838	4,13002	2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219296838G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1273G>A	2.37:g.219296838G>A	ENSP00000248444:p.Asp425Asn					VIL1_ENST00000392114.2_Missense_Mutation_p.D114N	p.D425N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1361	+		Renal(207;0.0474)	425			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1273G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375030	0.42105	2.27E-4	3.49E-4	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.22134	1.97;1.97	4.53	3.64	0.41730	Gelsolin domain (1);	0.133466	0.47455	D	0.000225	T	0.52322	0.1727	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.62487	-0.6844	10	0.48119	T	0.1	-37.3431	14.6602	0.68865	0.0:0.1462:0.8537:0.0	.	425	P09327	VILI_HUMAN	N	425;114	ENSP00000248444:D425N;ENSP00000375962:D114N	ENSP00000248444:D425N	D	+	1	0	VIL1	219005082	1.000000	0.71417	0.776000	0.31678	0.027000	0.11550	9.638000	0.98445	1.135000	0.42183	-0.314000	0.08810	GAC		0.592	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		6	46	0	0	0	1	0	6	46					A	219296838	G	A	219296838	3	1	254	1	0	0	0	0	1	0	0	0	17161	1058	37	1	1315	1	VIL1	2	219296838	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	10183726	219296838	23902535	6	28852											
SIAH2	6478	broad.mit.edu	37	chr3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-													gcggggacaccgggccggccCcgccgccgccgccggggccc					rs569310827		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:150480449_150480451delCCG	ENST00000312960.3	-	1	713_715	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G	SIAH2_ENST00000472885.1_Intron|SIAH2-AS1_ENST00000461943.1_RNA	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	62					axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(184-189)ggg>gg		siah E3 ubiquitin protein ligase 2				31,18,2859		4,0,23,4,10,1413						1.9	1			6	73,0,6195		12,0,49,0,0,3073	no	codingComplex	SIAH2	NM_005067.5		16,0,72,4,10,4486	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1646,1.685,1.3296				104,18,9054				SO:0001651	inframe_deletion	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150480449_150480451delCCG	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"seven in absentia (Drosophila) homolog 2", "seven in absentia homolog 2 (Drosophila)"			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.186_188delCGG	3.37:g.150480458_150480460delCCG	ENSP00000322457:p.Gly63del					SIAH2_ENST00000472885.1_Intron	p.GG62del	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	713_715	-			62					O43270	In_Frame_Del	DEL	ENST00000312960.3	37	c.186_188delCGG	CCDS3152.1																																																																																				0.764	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		3	6						3	6	---	---	---	---	-	150480451	CCG	-	150480449	7	5	254	1	0	1	0	1	0	0	0	0	14300	623	22	0	794	0	SIAH2	3	150480449	In_Frame_Del	DEL	CCG	TCGA-HT-7607-01A-11D-2086-08		150480449	47541981	7	28853											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	9	9	1	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {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.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		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)	TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	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						c.(1357-1359)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							137	130	132					3																	178928079		1829	4090	5919	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928079G>A		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.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E453K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1514	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1357G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			20	96	0	0	0	1	0	20	96					A	178928079	G	A	178928079	3	1	254	1	0	0	0	0	1	0	0	0	11913	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	28447630	178928079	19094351	8	28854											
AHRR	57491	broad.mit.edu	37	chr5	413500	413500	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgtgagtgcagaagggacGatattttatgcatcagcaac	12	7	1	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:413500G>A	ENST00000505113.1	+	5	449	c.405G>A	c.(403-405)acG>acA	p.T135T	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.T135T	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	135	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CAGAAGGGACGATATTTTATG	0.403																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(403-405)acG>acA		aryl-hydrocarbon receptor repressor							152	136	141					5																	413500		1900	4110	6010	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:413500G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.405G>A	5.37:g.413500G>A						AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.T135T	p.T135T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	449	+			135			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.405G>A	CCDS56355.1																																																																																				0.403	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		21	82	0	0	0	1	0	21	82					A	413500	G	A	413500	2	1	254	1	0	0	0	0	0	0	0	1	417	1045	37	1		1	AHRR	5	413500	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08		413500	180501760	9	28855											
KIAA1191	57179	broad.mit.edu	37	chr5	175779732	175779732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatggcaggggagggtagaCtggcctctccttcctccacc	12	14	2	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:175779732C>T	ENST00000298569.4	-	5	760	c.227G>A	c.(226-228)aGt>aAt	p.S76N	KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	76						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)		GGAGGGTAGACTGGCCTCTCC	0.527																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(226-228)aGt>aAt		KIAA1191							77	66	70					5																	175779732		2203	4300	6503	SO:0001583	missense	57179						protein binding	g.chr5:175779732C>T	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.227G>A	5.37:g.175779732C>T	ENSP00000298569:p.Ser76Asn					KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|KIAA1191_ENST00000393728.2_Intron|RP11-843P14.2_ENST00000508187.1_RNA	p.S76N	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	5	760	-	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)	76					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	ENST00000298569.4	37	c.227G>A	CCDS4399.1	.	.	.	.	.	.	.	.	.	.	C	1.433	-0.569693	0.03910	.	.	ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164;ENST00000506983;ENST00000503082;ENST00000504688	.	.	.	4.48	2.51	0.30379	.	0.569900	0.20123	N	0.098776	T	0.28167	0.0695	L	0.37750	1.13	0.21782	N	0.999547	B	0.21606	0.058	B	0.18561	0.022	T	0.16129	-1.0413	9	0.24483	T	0.36	-0.1085	6.9808	0.24702	0.0:0.6212:0.1357:0.2431	.	76	Q96A73	K1191_HUMAN	N	76;57;76;57;57;57	.	ENSP00000298569:S76N	S	-	2	0	KIAA1191	175712338	0.255000	0.24002	0.523000	0.27875	0.254000	0.26022	0.376000	0.20535	0.459000	0.27016	-1.164000	0.01763	AGT		0.527	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		13	43	0	0	0	1	0	13	43					T	175779732	C	T	175779732	3	4	254	1	0	0	0	0	1	0	0	0	8212	565	20	2	710	2	KIAA1191	5	175779732	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	175366232	175779732	5135528	10	28856											
GMPR	2766	broad.mit.edu	37	chr6	16295259	16295259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctgagggtaagactgtgGaagttccttacaaaggagat	12	7	1	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:16295259G>A	ENST00000259727.4	+	9	994	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	294					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TAAGACTGTGGAAGTTCCTTA	0.498																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(880-882)Gaa>Aaa		guanosine monophosphate reductase							72	74	73					6																	16295259		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16295259G>A		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.880G>A	6.37:g.16295259G>A	ENSP00000259727:p.Glu294Lys					GMPR_ENST00000544145.1_3'UTR	p.E294K	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			9	994	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	294					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.880G>A	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474322	0.26423	.	.	ENSG00000137198	ENST00000259727	T	0.79554	-1.28	5.66	5.66	0.87406	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.098059	0.64402	D	0.000002	T	0.54143	0.1840	N	0.17312	0.475	0.80722	D	1	B	0.17852	0.024	B	0.20184	0.028	T	0.58352	-0.7651	10	0.07813	T	0.8	-40.2627	19.7403	0.96228	0.0:0.0:1.0:0.0	.	294	P36959	GMPR1_HUMAN	K	294	ENSP00000259727:E294K	ENSP00000259727:E294K	E	+	1	0	GMPR	16403238	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.682000	0.84083	2.652000	0.90054	0.655000	0.94253	GAA		0.498	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			11	55	0	0	0	1	0	11	55					A	16295259	G	A	16295259	3	1	254	1	0	0	0	0	1	0	0	0	6496	1175	41	2	914	2	GMPR	6	16295259	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		16295259	154819808	11	28857											
ZNF292	23036	broad.mit.edu	37	chr6	87965029	87965030	+	Frame_Shift_Del	DEL	AG	AG	-													cagaatagtacgacatgctcAgaaacattacaaagatggaa							TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:87965029_87965030delAG	ENST00000369577.3	+	8	1725_1726	c.1682_1683delAG	c.(1681-1683)cagfs	p.Q561fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	561						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)		CGACATGCTCAGAAACATTACA	0.371																																						ENST00000369577.3																			0				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						c.(1681-1683)cfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87965029_87965030delAG	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.1682_1683delAG	6.37:g.87965029_87965030delAG	ENSP00000358590:p.Gln561fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs	p.Q561fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1725_1726	+		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)	561					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1682_1683delAG	CCDS47457.1																																																																																				0.371	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	37						8	37	---	---	---	---	-	87965030	AG	-	87965029	7	5	254	1	0	1	0	1	0	0	0	0	17823	188	7	0	1712	0	ZNF292	6	87965029	Frame_Shift_Del	DEL	AG	TCGA-HT-7607-01A-11D-2086-08	71669770	87965029	83150038	12	28858											
WDR27	253769	broad.mit.edu	37	chr6	170052047	170052047	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggtgctgacgcataaccaGatgacctaactttactatgg	10	9	0	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:170052047G>A	ENST00000448612.1	-	14	1569	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F|WDR27_ENST00000333572.6_Missense_Mutation_p.S487F	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	457						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)		CGCATAACCAGATGACCTAAC	0.428																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(1459-1461)tCt>tTt		WD repeat domain 27							93	93	93					6																	170052047		2012	4172	6184	SO:0001583	missense	253769							g.chr6:170052047G>A	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.1460C>T	6.37:g.170052047G>A	ENSP00000416289:p.Ser487Phe					WDR27_ENST00000448612.1_Missense_Mutation_p.S487F|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F|WDR27_ENST00000546525.1_5'UTR	p.S487F			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	14	1979	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	457					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1460C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463885	0.63513	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.35048	1.37;1.66;1.33	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000008	T	0.49081	0.1536	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.53823	-0.8384	10	0.87932	D	0	-23.3534	14.6485	0.68777	0.0:0.0:1.0:0.0	.	487;360;487	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	F	487;487;360	ENSP00000416289:S487F;ENSP00000330265:S487F;ENSP00000397869:S360F	ENSP00000330265:S487F	S	-	2	0	WDR27	169793972	0.997000	0.39634	0.045000	0.18777	0.013000	0.08279	5.339000	0.65953	2.237000	0.73441	0.563000	0.77884	TCT		0.428	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		8	28	0	0	0	1	0	8	28					A	170052047	G	A	170052047	3	1	254	1	0	0	0	0	1	0	0	0	17281	942	33	2	1161	2	WDR27	6	170052047	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	82087018	170052047	1063020	13	28859											
DFNA5	1687	broad.mit.edu	37	chr7	24789217	24789217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcttctatgagtacatcGccaagggtgagggataaaaa	12	6	2	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:24789217G>A	ENST00000342947.3	-	2	602	c.177C>T	c.(175-177)ggC>ggT	p.G59G	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G59G|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409970.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	59					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGAGTACATCGCCAAGGGTGA	0.388																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(175-177)ggC>ggT		deafness, autosomal dominant 5							152	160	158					7																	24789217		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24789217G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.177C>T	7.37:g.24789217G>A						DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_Intron|DFNA5_ENST00000409775.3_Silent_p.G59G|DFNA5_ENST00000419307.1_Intron	p.G59G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			2	602	-			59					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.177C>T	CCDS5389.1																																																																																				0.388	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		4	166	0	0	0	1	0	4	166					A	24789217	G	A	24789217	2	1	254	1	0	0	0	0	0	0	0	1	4454	1074	38	1		1	DFNA5	7	24789217	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08		24789217	134349446	14	28860											
TRRAP	8295	broad.mit.edu	37	chr7	98508712	98508712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattaggtccagatagcaGgaaatggacagacatacatc	10	7	0	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:98508712G>A	ENST00000359863.4	+	17	2034	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	609					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)			CCAGATAGCAGGAAATGGACA	0.453																																						ENST00000359863.4																			0				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						c.(1825-1827)Gga>Aga		transformation/transcription domain-associated protein							84	75	78					7																	98508712		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98508712G>A	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.1825G>A	7.37:g.98508712G>A	ENSP00000352925:p.Gly609Arg					TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R	p.G609R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	2034	+	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)		609					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1825G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258328	0.59321	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	Armadillo-type fold (1);	0.130938	0.56097	D	0.000037	T	0.34890	0.0913	L	0.34521	1.04	0.58432	D	0.999997	B;B;B	0.31174	0.311;0.128;0.207	B;B;B	0.27076	0.076;0.025;0.023	T	0.07597	-1.0764	10	0.18276	T	0.48	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	609;323;609	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	R	609;609;607	ENSP00000352925:G609R;ENSP00000347733:G609R	ENSP00000347733:G609R	G	+	1	0	TRRAP	98346648	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.490000	0.81461	2.827000	0.97445	0.650000	0.86243	GGA		0.453	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	66	0	0	0	1	0	10	66					A	98508712	G	A	98508712	3	1	254	1	0	0	0	0	1	0	0	0	16598	1001	35	2	1887	2	TRRAP	7	98508712	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	73719495	98508712	60629951	15	28861											
POT1	25913	broad.mit.edu	37	chr7	124499166	124499166	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctggtgccatcccataCctgccataagagagtagagt	10	11	0	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:124499166C>A	ENST00000357628.3	-	9	1145	c.547G>T	c.(547-549)Gta>Tta	p.V183L	POT1_ENST00000393329.1_Splice_Site_p.V52L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	183					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.V183L(2)		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						CCATCCCATACCTGCCATAAG	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			2	Substitution - Missense(2)	p.V183L(2)	lung(2)	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						c.e9-1		protection of telomeres 1							55	55	55					7																	124499166		2203	4300	6503	SO:0001630	splice_region_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124499166C>A	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.547-1G>T	7.37:g.124499166C>A						POT1_ENST00000393329.1_Splice_Site_p.V52_splice	p.V183_splice	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			9	1145	-			183					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	37	c.546_splice	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778544	0.90195	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.64991	-0.03;-0.13	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.79475	2.455	0.58432	D	0.999996	D	0.76494	0.999	D	0.71656	0.974	T	0.76903	-0.2787	10	0.36615	T	0.2	-10.0886	19.4402	0.94817	0.0:1.0:0.0:0.0	.	183	Q9NUX5	POTE1_HUMAN	L	183;52;183;183;183;182	ENSP00000350249:V183L;ENSP00000377002:V52L	ENSP00000265391:V182L	V	-	1	0	POT1	124286402	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.957000	0.70323	2.838000	0.97847	0.591000	0.81541	GTA		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Missense_Mutation	8	40	1	0	1.12685e-05	1	1.23733e-05	8	40					A	124499166	C	A	124499166	5	1	254	1	0	0	0	0	0	0	1	0	12260	521	18	4	1401	4	POT1	7	124499166	Splice_Site	SNP	C	TCGA-HT-7607-01A-11D-2086-08	25990454	124499166	34639497	16	28862											
ABP1	26	broad.mit.edu	37	chr7	150555011	150555011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcatgccactggctacGtccacgccaccttctacacc	7	17	1	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:150555011G>A	ENST00000493429.1	+	4	2037	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	AOC1_ENST00000416793.2_Missense_Mutation_p.V485I|AOC1_ENST00000360937.4_Missense_Mutation_p.V485I|AOC1_ENST00000467291.1_Missense_Mutation_p.V485I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	485					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CACTGGCTACGTCCACGCCAC	0.557																																						ENST00000493429.1																			0											c.(1453-1455)Gtc>Atc		amine oxidase, copper containing 1							70	77	75					7																	150555011		2162	4253	6415	SO:0001583	missense	26							g.chr7:150555011G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1453G>A	7.37:g.150555011G>A	ENSP00000418614:p.Val485Ile					AOC1_ENST00000416793.2_Missense_Mutation_p.V485I|AOC1_ENST00000467291.1_Missense_Mutation_p.V485I|AOC1_ENST00000360937.4_Missense_Mutation_p.V485I	p.V485I							4	2037	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1453G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.083052	0.00371	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	5.26	0.0561	0.14318	Copper amine oxidase, C-terminal (3);	0.247403	0.39687	N	0.001283	T	0.01156	0.0038	N	0.02357	-0.585	0.19300	N	0.99998	B;B	0.15141	0.012;0.001	B;B	0.18263	0.021;0.009	T	0.47129	-0.9141	10	0.02654	T	1	-8.6596	5.3639	0.16103	0.4161:0.137:0.4469:0.0	.	485;485	C9J690;P19801	.;ABP1_HUMAN	I	485;485;485;11;485;361	ENSP00000418614:V485I;ENSP00000418328:V485I;ENSP00000354193:V485I;ENSP00000411613:V485I	ENSP00000354193:V485I	V	+	1	0	ABP1	150185944	0.145000	0.22656	0.212000	0.23672	0.197000	0.23852	0.595000	0.24029	-0.161000	0.10983	-1.002000	0.02502	GTC		0.557	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		21	106	0	0	0	1	0	21	106					A	150555011	G	A	150555011	3	1	254	1	0	0	0	0	1	0	0	0	98	1145	40	1	1455	1	ABP1	7	150555011	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	26055845	150555011	8583652	17	28863											
DLC1	10395	broad.mit.edu	37	chr8	12957910	12957910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagctgaagctggacaGttccttgggagagggcaggc	17	8	0	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr8:12957910G>A	ENST00000276297.4	-	9	2345	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	DLC1_ENST00000520226.1_Silent_p.L135L|DLC1_ENST00000512044.2_Silent_p.L243L|DLC1_ENST00000358919.2_Silent_p.L209L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	646					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						AAGCTGGACAGTTCCTTGGGA	0.567																																						ENST00000276297.4																			0				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						c.(1936-1938)Ctg>Ttg		deleted in liver cancer 1							100	94	96					8																	12957910		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957910G>A	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.1936C>T	8.37:g.12957910G>A						DLC1_ENST00000358919.2_Silent_p.L209L|DLC1_ENST00000520226.1_Silent_p.L135L|DLC1_ENST00000512044.2_Silent_p.L243L	p.L646L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2345	-			646					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1936C>T	CCDS5989.1																																																																																				0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	126	0	0	0	1	0	4	126					A	12957910	G	A	12957910	2	1	254	1	0	0	0	0	0	0	0	1	4550	1020	36	2		2	DLC1	8	12957910	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08		12957910	133406112	18	28864											
FLJ46321	389763	broad.mit.edu	37	chr9	84608504	84608504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcgaaaaattagattcaaCaagctcattccccatcctcg	5	12	2	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:84608504C>A	ENST00000344803.2	+	4	3166	c.3119C>A	c.(3118-3120)aCa>aAa	p.T1040K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1040					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTAGATTCAACAAGCTCATTC	0.438																																						ENST00000344803.2																			0											c.(3118-3120)aCa>aAa		SPATA31 subfamily D, member 1							155	160	158					9																	84608504		1867	4100	5967	SO:0001583	missense	389763							g.chr9:84608504C>A		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.3119C>A	9.37:g.84608504C>A	ENSP00000341988:p.Thr1040Lys						p.T1040K	NM_001001670.2	NP_001001670.1					4	3166	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.3119C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.900	-0.722705	0.03158	.	.	ENSG00000214929	ENST00000344803	T	0.05382	3.45	1.36	0.416	0.16416	.	.	.	.	.	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	P	0.44344	0.833	B	0.37650	0.255	T	0.40040	-0.9584	9	0.18710	T	0.47	1.134	3.6935	0.08355	0.0:0.742:0.0:0.258	.	1040	Q6ZQQ2	F75D1_HUMAN	K	1040	ENSP00000341988:T1040K	ENSP00000341988:T1040K	T	+	2	0	FAM75D1	83798324	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	-0.486000	0.06513	0.169000	0.19679	-0.225000	0.12378	ACA		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	261	1	0	0.0293803	1	0.0310434	6	261					A	84608504	C	A	84608504	3	1	254	1	0	0	0	0	1	0	0	0	5932	478	17	4	3133	4	FLJ46321	9	84608504	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		84608504	56604927	19	28865											
COL27A1	85301	broad.mit.edu	37	chr9	117050747	117050747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccacagggggagcagggcGaggacggcaaggctgagggg	22	8	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:117050747G>A	ENST00000356083.3	+	42	4391	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1334	Collagen-like 12.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCAGGGCGAGGACGGCAA	0.637																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(4000-4002)Gag>Aag		collagen, type XXVII, alpha 1							37	37	37					9																	117050747		2203	4298	6501	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117050747G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4000G>A	9.37:g.117050747G>A	ENSP00000348385:p.Glu1334Lys						p.E1334K	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			42	4391	+			1334			Collagen-like 12.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.4000G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615010	0.66672	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.88818	-2.43	4.72	3.82	0.43975	.	.	.	.	.	D	0.82342	0.5016	M	0.63843	1.955	0.31284	N	0.690284	P	0.40681	0.727	B	0.28991	0.097	T	0.77691	-0.2493	9	0.10902	T	0.67	.	10.9666	0.47416	0.0934:0.0:0.9066:0.0	.	1334	Q8IZC6	CORA1_HUMAN	K	1334	ENSP00000348385:E1334K	ENSP00000348385:E1334K	E	+	1	0	COL27A1	116090568	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	6.474000	0.73578	1.111000	0.41721	0.591000	0.81541	GAG		0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	17	0	0	0	1	0	4	17					A	117050747	G	A	117050747	3	1	254	1	0	0	0	0	1	0	0	0	3685	1059	37	1	4166	1	COL27A1	9	117050747	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	32442243	117050747	24162684	20	28866											
PDCD4	27250	broad.mit.edu	37	chr10	112641024	112641024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgactctctcttttccgGtgatgaagaaaatgctggga	11	7	2	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:112641024G>A	ENST00000280154.7	+	3	351	c.77G>A	c.(76-78)gGt>gAt	p.G26D	PDCD4_ENST00000393104.2_Missense_Mutation_p.G15D	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	26					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)		CTCTTTTCCGGTGATGAAGAA	0.318																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(43-45)gGt>gAt		programmed cell death 4 (neoplastic transformation inhibitor)							75	86	82					10																	112641024		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641024G>A	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.77G>A	10.37:g.112641024G>A	ENSP00000280154:p.Gly26Asp					PDCD4_ENST00000280154.7_Missense_Mutation_p.G26D	p.G15D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	404	+		Breast(234;0.0848)|Lung NSC(174;0.238)	26					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.44G>A	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625607	0.46840	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.32988	1.48;1.43	5.34	5.34	0.76211	.	0.110120	0.64402	D	0.000009	T	0.23289	0.0563	N	0.22421	0.69	0.54753	D	0.999984	B;B	0.30068	0.267;0.164	B;B	0.25140	0.058;0.027	T	0.03212	-1.1060	10	0.39692	T	0.17	-18.2216	17.5813	0.87969	0.0:0.0:1.0:0.0	.	26;15	Q53EL6;B5ME91	PDCD4_HUMAN;.	D	26;15	ENSP00000280154:G26D;ENSP00000376816:G15D	ENSP00000280154:G26D	G	+	2	0	PDCD4	112631014	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	4.829000	0.62737	2.651000	0.90000	0.585000	0.79938	GGT		0.318	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		19	101	0	0	0	1	0	19	101					A	112641024	G	A	112641024	3	1	254	1	0	0	0	0	1	0	0	0	11621	1261	44	2	97	2	PDCD4	10	112641024	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		112641024	22893723	21	28867											
BAG3	9531	broad.mit.edu	37	chr10	121432114	121432114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagccaggagcagcacGccactccactccccctcgcc	7	22	1	0	rs147259596	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:121432114G>A	ENST00000369085.3	+	3	1161	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	285					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGAGCAGCACGCCACTCCACT	0.657																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(853-855)acG>acA		BCL2-associated athanogene 3		G		2,4404	4.2+/-10.8	0,2,2201	45	52	49		855	-8.6	0.2	10	dbSNP_134	49	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	BAG3	NM_004281.3		0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615		285/576	121432114	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121432114G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.855G>A	10.37:g.121432114G>A							p.T285T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	1161	+		Lung NSC(174;0.109)|all_lung(145;0.142)	285					A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	c.855G>A	CCDS7615.1																																																																																				0.657	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		7	63	0	0	0	1	0	7	63					A	121432114	G	A	121432114	2	1	254	1	0	0	0	0	0	0	0	1	1288	1074	38	1		1	BAG3	10	121432114	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08	8791090	121432114	14102633	22	28868											
TRAF6	7189	broad.mit.edu	37	chr11	36512016	36512016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattttagcagtcagctccCggatttgatggtcttgtctt	9	10	3	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr11:36512016C>A	ENST00000526995.1	-	7	1187	c.941G>T	c.(940-942)cGg>cTg	p.R314L	TRAF6_ENST00000348124.5_Missense_Mutation_p.R314L|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	314	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|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)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|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)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGTCAGCTCCCGGATTTGATG	0.458																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(940-942)cGg>cTg		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							148	136	140					11																	36512016		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36512016C>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.941G>T	11.37:g.36512016C>A	ENSP00000433623:p.Arg314Leu					TRAF6_ENST00000348124.5_Missense_Mutation_p.R314L|TRAF6_ENST00000529150.1_5'UTR	p.R314L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			7	1187	-	all_lung(20;0.211)	all_hematologic(20;0.107)	314			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.941G>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895473	0.72639	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.82433	-1.61;-1.61	5.13	5.13	0.70059	.	0.050409	0.85682	D	0.000000	D	0.85168	0.5635	M	0.81497	2.545	0.80722	D	1	B	0.20052	0.041	B	0.25759	0.063	T	0.82252	-0.0549	10	0.39692	T	0.17	-12.8578	18.9251	0.92541	0.0:1.0:0.0:0.0	.	314	Q9Y4K3	TRAF6_HUMAN	L	314	ENSP00000433623:R314L;ENSP00000337853:R314L	ENSP00000337853:R314L	R	-	2	0	TRAF6	36468592	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.955000	0.76007	2.540000	0.85666	0.555000	0.69702	CGG		0.458	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		4	172	1	0	0.184627	1	0.187984	4	172					A	36512016	C	A	36512016	3	1	254	1	0	0	0	0	1	0	0	0	16442	652	23	4	631	4	TRAF6	11	36512016	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		36512016	98494500	23	28869											
SPTBN2	6712	broad.mit.edu	37	chr11	66466131	66466131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaccttgtccagccaGtctttgttggcagccagctc	9	14	1	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr11:66466131G>T	ENST00000533211.1	-	20	4324	c.3993C>A	c.(3991-3993)gaC>gaA	p.D1331E	SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1331E|SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1331E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1331					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						TGTCCAGCCAGTCTTTGTTGG	0.617																																						ENST00000533211.1																			0				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						c.(3991-3993)gaC>gaA		spectrin, beta, non-erythrocytic 2							93	87	89					11																	66466131		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66466131G>T	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.3993C>A	11.37:g.66466131G>T	ENSP00000432568:p.Asp1331Glu					SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1331E|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1331E	p.D1331E			O15020	SPTN2_HUMAN			20	4324	-			1331					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3993C>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	9.660	1.144012	0.21205	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.33216	1.42;1.42;1.42	4.72	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	N	0.11560	0.145	0.50313	D	0.999867	B	0.15930	0.015	B	0.22601	0.04	T	0.12502	-1.0545	10	0.02654	T	1	.	10.7158	0.46011	0.166:0.0:0.834:0.0	.	1331	O15020	SPTN2_HUMAN	E	1331	ENSP00000432568:D1331E;ENSP00000311489:D1331E;ENSP00000433593:D1331E	ENSP00000311489:D1331E	D	-	3	2	SPTBN2	66222707	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.394000	0.20834	1.182000	0.42928	0.655000	0.94253	GAC		0.617	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		4	168	1	0	1	1	1	4	168					T	66466131	G	T	66466131	3	4	254	1	0	0	0	0	1	0	0	0	15119	1020	36	4	3255	4	SPTBN2	11	66466131	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	29954115	66466131	68540385	24	28870											
RAD51AP1	10635	broad.mit.edu	37	chr12	4668029	4668029	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtttcctttcagcggcatCtggaggtagcagaagtagca	12	8	2	1	rs140432356		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:4668029C>T	ENST00000352618.4	+	9	928	c.878C>T	c.(877-879)tCt>tTt	p.S293F	RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S310F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F	NM_006479.4	NP_006470.1			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)			TCAGCGGCATCTGGAGGTAGC	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		19520	0.0		0.001	False		,,,				2504	0.0					ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(928-930)tCt>tTt		RAD51 associated protein 1		C	PHE/SER,PHE/SER	0,4406		0,0,2203	109	96	100		929,878	4.7	0	12	dbSNP_134	100	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	RAD51AP1	NM_001130862.1,NM_006479.4	155,155	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging	310/353,293/336	4668029	6,13000	2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4668029C>T	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	ENST00000352618.4:c.878C>T	12.37:g.4668029C>T	ENSP00000309479:p.Ser293Phe					RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S293F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F|RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F	p.S310F	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		10	979	+			310						Missense_Mutation	SNP	ENST00000352618.4	37	c.929C>T	CCDS8529.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.96	2.393154	0.42410	0.0	6.98E-4	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T;T;T;T	0.40756	1.27;1.15;1.02;1.02	4.67	4.67	0.58626	.	0.594667	0.15580	N	0.254994	T	0.61961	0.2389	M	0.65975	2.015	0.09310	N	0.999999	D;D;D;P	0.89917	0.999;0.999;1.0;0.765	D;D;D;B	0.87578	0.996;0.997;0.998;0.245	T	0.53136	-0.8481	10	0.59425	D	0.04	-10.6814	12.9459	0.58371	0.0:1.0:0.0:0.0	.	191;310;310;293	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	F	260;191;310;293	ENSP00000323750:S260F;ENSP00000439960:S191F;ENSP00000228843:S310F;ENSP00000309479:S293F	ENSP00000228843:S310F	S	+	2	0	RAD51AP1	4538290	0.274000	0.24191	0.046000	0.18839	0.940000	0.58332	4.067000	0.57527	2.429000	0.82318	0.655000	0.94253	TCT		0.418	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		11	60	0	0	0	1	0	11	60					T	4668029	C	T	4668029	3	4	254	1	0	0	0	0	1	0	0	0	12986	913	32	2	967	2	RAD51AP1	12	4668029	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		4668029	129183866	25	28871											
PA2G4	5036	broad.mit.edu	37	chr12	56504773	56504773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaagatgagaagaaggctCggatgggtgtggtggagtgc	19	3	0	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:56504773C>T	ENST00000303305.6	+	10	1287	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	290					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)			GAAGAAGGCTCGGATGGGTGT	0.418																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(868-870)Cgg>Tgg		proliferation-associated 2G4, 38kDa							63	60	61					12																	56504773		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504773C>T	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.868C>T	12.37:g.56504773C>T	ENSP00000302886:p.Arg290Trp					PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	p.R290W	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		10	1287	+			290					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.868C>T	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827117	0.50739	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	4.8	4.8	0.61643	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.78285	2.405	0.80722	D	1	P;P	0.48016	0.904;0.609	B;B	0.36845	0.234;0.075	T	0.64799	-0.6322	9	0.72032	D	0.01	.	10.921	0.47165	0.3014:0.6986:0.0:0.0	.	290;290	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	W	290;319;290	.	ENSP00000302886:R290W	R	+	1	2	PA2G4	54791040	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	1.391000	0.34475	2.372000	0.80975	0.650000	0.86243	CGG		0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		13	46	0	0	0	1	0	13	46					T	56504773	C	T	56504773	3	4	254	1	0	0	0	0	1	0	0	0	11361	875	31	1	906	1	PA2G4	12	56504773	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	51836744	56504773	77347122	26	28872											
ING1	3621	broad.mit.edu	37	chr13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaggcggagCgagaggcgtcccctgccgac	15	15	0	1	rs368239053		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr13:111372025C>T	ENST00000375774.3	+	2	1477	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	339					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)	p.R196*(3)|p.R339*(1)|p.R152*(1)		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)			CAAGGCGGAGCGAGAGGCGTC	0.627																																						ENST00000375774.3																			5	Substitution - Nonsense(5)	p.R196*(3)|p.R339*(1)|p.R152*(1)	endometrium(3)|large_intestine(2)	endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(1015-1017)Cga>Tga		inhibitor of growth family, member 1							102	71	81					13																	111372025		2203	4300	6503	SO:0001587	stop_gained	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111372025C>T		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.1015C>T	13.37:g.111372025C>T	ENSP00000364929:p.Arg339*					ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*|ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*	p.R339*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1477	+	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)		339					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Nonsense_Mutation	SNP	ENST00000375774.3	37	c.1015C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461577	0.63513	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	.	.	.	5.41	-4.77	0.03219	.	0.047098	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-45.0616	23.0881	0.99979	0.1965:0.8034:0.0:0.0	.	.	.	.	X	152;196;127;339	.	ENSP00000328436:R196X	R	+	1	2	ING1	110170026	0.974000	0.33945	0.853000	0.33588	0.380000	0.30137	0.240000	0.18042	-1.095000	0.03050	-0.500000	0.04577	CGA		0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		13	39	0	0	0	1	0	13	39					T	111372025	C	T	111372025	4	4	254	1	0	0	0	0	0	1	0	0	7735	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		111372025	3797853	27	28873											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	14	8	1	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr14:65544747C>T	ENST00000358664.4	-	4	309	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000284165.6_Missense_Mutation_p.R60Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)	p.R60Q(5)		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)		GATTTGGGCCCGGGATGCCTG	0.498																																						ENST00000284165.6																			5	Substitution - Missense(5)	p.R60Q(5)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(178-180)cGg>cAg		MYC associated factor X							100	88	92					14																	65544747		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544747C>T		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.179G>A	14.37:g.65544747C>T	ENSP00000351490:p.Arg60Gln					MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q	p.R60Q	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	327	-			60			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.179G>A	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661506	0.67700	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.32;-4.58;-4.58;-4.58;-4.58	5.72	3.91	0.45181	Helix-loop-helix DNA-binding (5);	0.119749	0.56097	D	0.000028	D	0.98492	0.9497	M	0.84326	2.69	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	0.87578	0.998;0.991;0.994;0.995;0.985	D	0.98698	1.0699	10	0.87932	D	0	-3.6574	11.4065	0.49900	0.0:0.8517:0.0:0.1483	.	60;51;51;60;60	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	Q	51;60;60;24;67;60;51;51;51	ENSP00000351175:R51Q;ENSP00000284165:R60Q;ENSP00000351490:R60Q;ENSP00000452405:R24Q;ENSP00000452378:R60Q;ENSP00000452286:R51Q;ENSP00000452197:R51Q;ENSP00000450818:R51Q	ENSP00000284165:R60Q	R	-	2	0	MAX	64614500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	0.774000	0.33427	-0.140000	0.14226	CGG		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		19	60	0	0	0	1	0	19	60					T	65544747	C	T	65544747	3	4	254	1	0	0	0	0	1	0	0	0	9339	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		65544747	41804793	28	28874											
HCN4	10021	broad.mit.edu	37	chr15	73616140	73616140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgtgggggttggggtgGcagaggcagcagcctggacg	23	8	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:73616140G>A	ENST00000261917.3	-	8	3287	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	765					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)		GGTTGGGGTGGCAGAGGCAGC	0.647																																						ENST00000261917.3																			0				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						c.(2293-2295)gCc>gTc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							35	42	40					15																	73616140		2198	4296	6494	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616140G>A	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.2294C>T	15.37:g.73616140G>A	ENSP00000261917:p.Ala765Val						p.A765V	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3287	-			765					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2294C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455303	0.26161	.	.	ENSG00000138622	ENST00000261917	T	0.40756	1.02	3.24	3.24	0.37175	.	.	.	.	.	T	0.23171	0.0560	N	0.05383	-0.06	0.36083	D	0.842936	B	0.21452	0.056	B	0.15870	0.014	T	0.16364	-1.0405	9	0.22706	T	0.39	.	14.2498	0.66011	0.0:0.0:1.0:0.0	.	765	Q9Y3Q4	HCN4_HUMAN	V	765	ENSP00000261917:A765V	ENSP00000261917:A765V	A	-	2	0	HCN4	71403193	0.997000	0.39634	0.641000	0.29422	0.428000	0.31595	3.592000	0.53993	1.642000	0.50584	0.305000	0.20034	GCC		0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		11	58	0	0	0	1	0	11	58					A	73616140	G	A	73616140	3	1	254	1	0	0	0	0	1	0	0	0	6999	1203	42	2	1321	2	HCN4	15	73616140	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		73616140	28915252	29	28875											
ACAN	176	broad.mit.edu	37	chr15	89400165	89400165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagtagaggagatcagcgGgcttccttctggagaagttc	15	7	2	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:89400165G>T	ENST00000561243.1	+	11	4349	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V|ACAN_ENST00000439576.2_Missense_Mutation_p.G1450V			P16112	PGCA_HUMAN	aggrecan	1453	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				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)			GAGATCAGCGGGCTTCCTTCT	0.512																																						ENST00000439576.2																			0				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						c.(4348-4350)gGg>gTg		aggrecan							105	106	106					15																	89400165		1842	4093	5935	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400165G>T	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.4349G>T	15.37:g.89400165G>T	ENSP00000453342:p.Gly1450Val					ACAN_ENST00000561243.1_Missense_Mutation_p.G1450V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V	p.G1450V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4723	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1450					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4349G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	10.46	1.355363	0.24512	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95482	-3.72;-3.72	3.62	1.62	0.23740	.	.	.	.	.	D	0.91740	0.7388	L	0.49350	1.555	0.09310	N	0.999995	P;P	0.37824	0.609;0.467	B;B	0.36885	0.235;0.132	D	0.83671	0.0166	9	0.42905	T	0.14	.	6.4036	0.21652	0.1024:0.0:0.7159:0.1817	.	1450;1450	E7ENV9;E7EX88	.;.	V	1450;1450;1336	ENSP00000387356:G1450V;ENSP00000341615:G1450V	ENSP00000268134:G1336V	G	+	2	0	ACAN	87201169	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.166000	0.31834	0.286000	0.22352	0.313000	0.20887	GGG		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		29	115	1	0	5.90632e-09	1	6.61508e-09	29	115					T	89400165	G	T	89400165	3	4	254	1	0	0	0	0	1	0	0	0	117	1232	43	4	4391	4	ACAN	15	89400165	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	15784025	89400165	13131227	30	28876											
ZP2	7783	broad.mit.edu	37	chr16	21214448	21214448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaaaggtctttacctAtagaaacgggtgactcacag	8	7	2	2	rs142277591		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:21214448A>G	ENST00000574002.1	-	11	1579	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	366					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)		GTCTTTACCTATAGAAACGGG	0.418																																						ENST00000574002.1																			0				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						c.(1096-1098)aTa>aCa		zona pellucida glycoprotein 2 (sperm receptor)		A	THR/ILE	0,4400		0,0,2200	90	90	90		1097	5	0.9	16	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP2	NM_003460.1	89	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	366/746	21214448	1,12999	2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21214448A>G	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.1097T>C	16.37:g.21214448A>G	ENSP00000460971:p.Ile366Thr					AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T	p.I366T			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	11	1579	-			366					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1097T>C	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280259	0.59758	0.0	1.16E-4	ENSG00000103310	ENST00000219593	T	0.78246	-1.16	6.08	4.99	0.66335	.	0.331001	0.33199	N	0.005171	T	0.81508	0.4837	M	0.78801	2.425	0.40845	D	0.9837	P;P	0.52842	0.956;0.956	P;P	0.50049	0.629;0.629	T	0.82581	-0.0386	10	0.54805	T	0.06	-11.3189	10.1491	0.42782	0.9251:0.0:0.0749:0.0	.	366;366	Q4VAP1;Q05996	.;ZP2_HUMAN	T	366	ENSP00000219593:I366T	ENSP00000219593:I366T	I	-	2	0	ZP2	21121949	1.000000	0.71417	0.850000	0.33497	0.800000	0.45204	4.038000	0.57318	1.120000	0.41904	0.533000	0.62120	ATA		0.418	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			12	47	0	0	0	1	0	12	47					G	21214448	A	G	21214448	3	3	254	1	0	0	0	0	1	0	0	0	18213	449	16	3	1180	3	ZP2	16	21214448	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08		21214448	69140305	31	28877											
PLEKHM1	9842	broad.mit.edu	37	chr17	43545910	43545910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttcttggctcagtcCgttggttggcacagagttta	11	9	3	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:43545910C>T	ENST00000430334.3	-	5	1106	c.973G>A	c.(973-975)Gga>Aga	p.G325R	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R|RN7SL730P_ENST00000583727.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	325					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)					TGGCTCAGTCCGTTGGTTGGC	0.517																																						ENST00000430334.3																			0				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						c.(973-975)Gga>Aga		pleckstrin homology domain containing, family M (with RUN domain) member 1							140	138	139					17																	43545910		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43545910C>T	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.973G>A	17.37:g.43545910C>T	ENSP00000389913:p.Gly325Arg					PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R	p.G325R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			5	1106	-	Renal(3;0.0405)		325					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.973G>A	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314875	0.40996	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64991	-0.13;-0.13	4.69	-2.23	0.06930	.	0.895887	0.09537	N	0.788764	T	0.45196	0.1330	L	0.39397	1.21	0.09310	N	1	B;B	0.29805	0.257;0.047	B;B	0.26202	0.067;0.01	T	0.31503	-0.9941	10	0.39692	T	0.17	.	4.8195	0.13383	0.0:0.3538:0.1631:0.4831	.	236;325	F8W648;Q9Y4G2	.;PKHM1_HUMAN	R	325;274;236	ENSP00000389913:G325R;ENSP00000414352:G236R	ENSP00000414352:G236R	G	-	1	0	PLEKHM1	40901693	0.000000	0.05858	0.007000	0.13788	0.375000	0.29983	-2.485000	0.00979	-0.201000	0.10284	0.655000	0.94253	GGA		0.517	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		9	65	0	0	0	1	0	9	65					T	43545910	C	T	43545910	3	4	254	1	0	0	0	0	1	0	0	0	12080	661	23	1	2229	1	PLEKHM1	17	43545910	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		43545910	37649300	32	28878											
MPPED1	758	broad.mit.edu	37	chr22	43821094	43821094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagtcccacgtgatggccGctcggcggcaccagcacagc	12	18	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr22:43821094G>A	ENST00000417669.2	+	2	547	c.103G>A	c.(103-105)Gct>Act	p.A35T	MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T|MPPED1_ENST00000414469.2_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	35							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGTGATGGCCGCTCGGCGGCA	0.662																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(103-105)Gct>Act		metallophosphoesterase domain containing 1							33	38	37					22																	43821094		2141	4274	6415	SO:0001583	missense	758						hydrolase activity	g.chr22:43821094G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.103G>A	22.37:g.43821094G>A	ENSP00000388137:p.Ala35Thr					MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T	p.A35T			O15442	MPPD1_HUMAN			2	547	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	35					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.103G>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618424	0.46736	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000447567;ENST00000542779;ENST00000538182	T;T;T;T;T	0.52754	0.74;0.65;0.74;0.74;0.82	5.01	2.83	0.33086	.	0.523184	0.19783	N	0.106174	T	0.26629	0.0651	N	0.19112	0.55	0.80722	D	1	D;P	0.54772	0.968;0.913	B;B	0.36378	0.223;0.174	T	0.02417	-1.1162	10	0.40728	T	0.16	-6.6122	9.811	0.40824	0.0:0.147:0.6895:0.1635	.	68;35	B7Z2S9;O15442	.;MPPD1_HUMAN	T	35;35;35;13;35;35;68	ENSP00000388137:A35T;ENSP00000335568:A35T;ENSP00000400686:A35T;ENSP00000444532:A35T;ENSP00000438335:A68T	ENSP00000335568:A35T	A	+	1	0	MPPED1	42151038	0.998000	0.40836	0.832000	0.32986	0.952000	0.60782	4.057000	0.57455	0.449000	0.26747	0.655000	0.94253	GCT		0.662	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		3	59	0	0	0	1	0	3	59					A	43821094	G	A	43821094	3	1	254	1	0	0	0	0	1	0	0	0	9741	1087	38	1	105	1	MPPED1	22	43821094	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		43821094	7483472	33	28879											
NLGN4X	57502	broad.mit.edu	37	chrX	5811260	5811260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttgaggaagaggagcgaCgccccgacggcaatggtgac	16	9	0	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:5811260C>T	ENST00000381095.3	-	6	2676	c.2049G>A	c.(2047-2049)gcG>gcA	p.A683A	NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000275857.6_Silent_p.A683A|NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A	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	683					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						AGAGGAGCGACGCCCCGACGG	0.522													C|||	2	0.000529801	0.0	0.0	3775	,	,		14477	0.0		0.0	False		,,,				2504	0.002					ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2047-2049)gcG>gcA		neuroligin 4, X-linked							105	95	98					X																	5811260		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811260C>T	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.2049G>A	X.37:g.5811260C>T						NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A|NLGN4X_ENST00000275857.6_Silent_p.A683A	p.A683A	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2676	-			683					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2049G>A	CCDS14126.1																																																																																				0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		23	92	0	0	0	1	0	23	92					T	5811260	C	T	5811260	2	4	254	1	0	0	0	0	0	0	0	1	10464	523	19	1		1	NLGN4X	23	5811260	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		5811260	149459300	34	28880											
FRMPD4	9758	broad.mit.edu	37	chrX	12720061	12720061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatagccctgcggctggcCgcattacaaatgtacattgc	10	12	0	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:12720061C>T	ENST00000380682.1	+	10	1508	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	334	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGCGGCTGGCCGCATTACAAA	0.507											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1000-1002)gcC>gcT		FERM and PDZ domain containing 4							153	125	134					X																	12720061		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12720061C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1002C>T	X.37:g.12720061C>T			OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682		p.A334A	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			10	1508	+			334			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1002C>T	CCDS35201.1																																																																																				0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		32	126	0	0	0	1	0	32	126					T	12720061	C	T	12720061	2	4	254	1	0	0	0	0	0	0	0	1	6059	639	23	1		1	FRMPD4	23	12720061	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	6908801	12720061	142550499	35	28881											
OFD1	8481	broad.mit.edu	37	chrX	13786333	13786333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggagcaagaccaggagtCggcagataaggtgccagtgc	16	9	0	2	rs1801618		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:13786333C>T	ENST00000340096.6	+	21	3245	c.2918C>T	c.(2917-2919)tCg>tTg	p.S973L	OFD1_ENST00000380567.1_Missense_Mutation_p.S833L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S933L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	973	Mediates the interaction with SDCCAG8.				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						GACCAGGAGTCGGCAGATAAG	0.478																																						ENST00000380567.1																			0				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						c.(2497-2499)tCg>tTg		oral-facial-digital syndrome 1							48	47	47					X																	13786333		2201	4300	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13786333C>T	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.2918C>T	X.37:g.13786333C>T	ENSP00000344314:p.Ser973Leu					OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S933L|OFD1_ENST00000340096.6_Missense_Mutation_p.S973L	p.S833L			O75665	OFD1_HUMAN			22	3370	+			973			Mediates the interaction with SDCCAG8.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.2498C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266641	0.40095	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95412	-2.3;-3.7;-1.58	5.4	-6.06	0.02165	.	3.317490	0.01019	N	0.003956	D	0.88433	0.6435	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.81302	-0.0994	10	0.24483	T	0.36	10.7317	4.4907	0.11812	0.0999:0.1402:0.1952:0.5646	.	972;933;641;833;973	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	L	933;973;833	ENSP00000369923:S933L;ENSP00000344314:S973L;ENSP00000369941:S833L	ENSP00000344314:S973L	S	+	2	0	OFD1	13696254	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.927000	0.01561	-1.981000	0.00989	-1.913000	0.00520	TCG		0.478	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		15	89	0	0	0	1	0	15	89					T	13786333	C	T	13786333	3	4	254	1	0	0	0	0	1	0	0	0	10838	893	31	1	3000	1	OFD1	23	13786333	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	1066272	13786333	141484227	36	28882											
PHF6	84295	broad.mit.edu	37	chrX	133527974	133527974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaagaaaactgcacataActccgaaggtacatcattta	5	10	1	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:133527974A>G	ENST00000332070.3	+	5	612	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370800.4_Missense_Mutation_p.N137S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTGCACATAACTCCGAAGGT	0.294			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"F, N, Splice, Mis"	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(409-411)aAc>aGc		PHD finger protein 6							81	75	77					X																	133527974		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527974A>G	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.410A>G	X.37:g.133527974A>G	ENSP00000329097:p.Asn137Ser					PHF6_ENST00000370800.4_Missense_Mutation_p.N137S|PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S	p.N137S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN			5	612	+	Acute lymphoblastic leukemia(192;0.000127)		137					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.410A>G	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091455	0.36952	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.0;-2.6;-1.64;-2.06	4.92	4.92	0.64577	Zinc finger, RING/FYVE/PHD-type (1);	0.130328	0.64402	D	0.000002	T	0.80706	0.4674	N	0.24115	0.695	0.39495	D	0.968118	B;B;B;B;P	0.37500	0.092;0.072;0.231;0.231;0.597	B;B;B;B;B	0.33960	0.037;0.023;0.037;0.037;0.173	T	0.78871	-0.2033	10	0.08837	T	0.75	-17.9077	11.6282	0.51158	1.0:0.0:0.0:0.0	.	103;137;137;137;137	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	S	137;137;137;137;103;137	ENSP00000359839:N137S;ENSP00000329097:N137S;ENSP00000377831:N137S;ENSP00000359835:N137S;ENSP00000394480:N103S;ENSP00000359836:N137S	ENSP00000329097:N137S	N	+	2	0	PHF6	133355640	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	4.782000	0.62396	1.745000	0.51790	0.376000	0.23039	AAC		0.294	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		4	70	0	0	0	1	0	4	70					G	133527974	A	G	133527974	3	3	254	1	0	0	0	0	1	0	0	0	11838	43	2	3	424	3	PHF6	23	133527974	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	119741641	133527974	21742586	37	28883											
GABRA3	2556	broad.mit.edu	37	chrX	151532994	151532994	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagaatattaatcaggaaaaGaatcccaaggctggtcatgt	10	6	2	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:151532994G>C	ENST00000370314.4	-	2	287	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V	GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	17					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L17I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCAGGAAAAGAATCCCAAGG	0.453																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			1	Substitution - Missense(1)	p.L17I(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(49-51)Ctt>Gtt		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160	139	146					X																	151532994		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151532994G>C		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.49C>G	X.37:g.151532994G>C	ENSP00000359337:p.Leu17Val					GABRA3_ENST00000370311.1_Missense_Mutation_p.L17V|GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V	p.L17V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			2	287	-	Acute lymphoblastic leukemia(192;6.56e-05)		17					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.49C>G	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802741	0.31869	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.72725	-0.68;-0.68;-0.68	5.29	5.29	0.74685	.	1.807920	0.02759	N	0.118416	T	0.77438	0.4130	N	0.19112	0.55	0.25656	N	0.986053	P	0.46578	0.88	P	0.62184	0.899	T	0.67677	-0.5609	10	0.59425	D	0.04	.	13.1956	0.59736	0.0:0.0:1.0:0.0	.	17	P34903	GBRA3_HUMAN	V	17	ENSP00000359337:L17V;ENSP00000359334:L17V;ENSP00000443527:L17V	ENSP00000359334:L17V	L	-	1	0	GABRA3	151283650	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.982000	0.49337	2.175000	0.68902	0.600000	0.82982	CTT		0.453	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		30	127	0	0	0	1	0	30	127					C	151532994	G	C	151532994	3	2	254	1	0	0	0	0	1	0	0	0	6162	942	33	4	1465	4	GABRA3	23	151532994	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	18005020	151532994	3737566	38	28884											
HCFC1	3054	broad.mit.edu	37	chrX	153228837	153228837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatgtcccaggctaccActccagagcctggccgtaat	11	13	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:153228837A>C	ENST00000310441.7	-	4	1517	c.551T>G	c.(550-552)gTg>gGg	p.V184G	HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	184					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)					CCAGGCTACCACTCCAGAGCC	0.522																																						ENST00000310441.7																			0				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						c.(550-552)gTg>gGg		host cell factor C1 (VP16-accessory protein)							65	66	66					X																	153228837		1968	4135	6103	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153228837A>C		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.551T>G	X.37:g.153228837A>C	ENSP00000309555:p.Val184Gly					HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G|HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G	p.V184G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			4	1517	-	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)		184					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.551T>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561961	0.65538	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.67345	-0.26;-0.26;4.09	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.77616	2.38	0.80722	D	1	D	0.56746	0.977	D	0.66602	0.945	T	0.77683	-0.2496	10	0.25106	T	0.35	.	13.383	0.60780	1.0:0.0:0.0:0.0	.	184	P51610	HCFC1_HUMAN	G	184	ENSP00000309555:V184G;ENSP00000359001:V184G;ENSP00000346174:V184G	ENSP00000309555:V184G	V	-	2	0	HCFC1	152882031	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.180000	0.77674	1.871000	0.54225	0.430000	0.28490	GTG		0.522	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		13	61	0	0	0	1	0	13	61					C	153228837	A	C	153228837	3	2	254	1	0	0	0	0	1	0	0	0	6991	159	6	5	5648	5	HCFC1	23	153228837	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	1695843	153228837	2041723	39	28885											
FUBP1	8880	broad.mit.edu	37	chr1	78422268	78422269	+	Frame_Shift_Ins	INS	-	-	T													gtagttaccttgtccattagINStttgagttgtagttggtgca							TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	ENST00000370768.2	-	17	1774_1775	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.T565fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T586fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	565					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1693-1695)taafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422268_78422269insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1694dupA	1.37:g.78422271_78422271dupT	ENSP00000359804:p.Thr565fs					FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.*586fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.*565fs	p.*565fs			Q96AE4	FUBP1_HUMAN			17	1780_1781	-			565					Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.1693_1694insA	CCDS683.1																																																																																				0.406	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		54	41						54	41	---	---	---	---	T	78422269	-	T	78422268	7	5	255	1	0	1	1	0	0	0	0	0	6092	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Ins	INS	-	TCGA-HT-7608-01A-11D-2086-08		78422268	170828353	1	28886											
LMNA	4000	broad.mit.edu	37	chr1	156104684	156104684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagagccggctggcggAtgcgctgcaggaactgcggg	19	9	0	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	ENST00000368300.4	+	4	940	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G|LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	243	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(727-729)gAt>gGt		lamin A/C							87	83	84					1																	156104684		2203	4300	6503	SO:0001583	missense	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156104684A>G	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.728A>G	1.37:g.156104684A>G	ENSP00000357283:p.Asp243Gly					LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G|LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G	p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			4	940	+	Hepatocellular(266;0.158)		243			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	c.728A>G	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634620	0.47049	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	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	5.45	5.45	0.79879	Filament (1);	0.000000	0.56097	D	0.000022	T	0.81240	0.4781	L	0.39085	1.19	0.58432	D	0.999999	B;B;B;P;B;B;B	0.41188	0.016;0.099;0.018;0.741;0.099;0.003;0.08	B;B;B;B;B;B;B	0.43018	0.034;0.063;0.021;0.405;0.063;0.019;0.037	D	0.83972	0.0327	10	0.51188	T	0.08	.	13.45	0.61165	1.0:0.0:0.0:0.0	.	131;243;144;162;243;243;243	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	G	243;243;243;243;243;243;243;131;162;160;144;162	ENSP00000357284:D243G;ENSP00000292304:D243G;ENSP00000355292:D243G;ENSP00000357283:D243G;ENSP00000357282:D243G;ENSP00000395597:D131G;ENSP00000357280:D162G;ENSP00000426535:D160G;ENSP00000421821:D144G;ENSP00000376164:D162G	ENSP00000292302:D243G	D	+	2	0	LMNA	154371308	1.000000	0.71417	0.438000	0.26821	0.781000	0.44180	6.029000	0.70895	2.056000	0.61249	0.379000	0.24179	GAT		0.582	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		19	77	0	0	0	1	0	19	77					G	156104684	A	G	156104684	3	3	255	1	0	0	0	0	1	0	0	0	8848	333	12	3	742	3	LMNA	1	156104684	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	77682416	156104684	93145937	2	28887											
C1orf65	164127	broad.mit.edu	37	chr1	223567391	223567391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcagttccctcggagCggtcttctgtgccctcgcaa	9	16	3	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	ENST00000366875.3	+	1	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(574-576)Cgg>Tgg		chromosome 1 open reading frame 65							67	70	69					1																	223567391		2203	4300	6503	SO:0001583	missense	164127							g.chr1:223567391C>T																												ENST00000366875.3:c.574C>T	1.37:g.223567391C>T	ENSP00000355840:p.Arg192Trp						p.R192W	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	677	+			192					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.574C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813263	0.50527	.	.	ENSG00000178395	ENST00000366875	T	0.20598	2.06	4.71	2.42	0.29668	.	.	.	.	.	T	0.19005	0.0456	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	P	0.52957	0.714	T	0.10177	-1.0641	9	0.87932	D	0	.	3.4688	0.07559	0.5791:0.2237:0.1972:0.0	.	192	Q8N715	CA065_HUMAN	W	192	ENSP00000355840:R192W	ENSP00000355840:R192W	R	+	1	2	C1orf65	221634014	0.996000	0.38824	0.280000	0.24747	0.082000	0.17680	1.737000	0.38197	0.647000	0.30713	-0.271000	0.10264	CGG		0.597	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			53	71	0	0	0	1	0	53	71					T	223567391	C	T	223567391	3	4	255	1	0	0	0	0	1	0	0	0	2055	759	27	1	576	1	C1orf65	1	223567391	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	67462707	223567391	25683230	3	28888											
BIRC6	57448	broad.mit.edu	37	chr2	32706407	32706407	+	Frame_Shift_Del	DEL	T	T	-													ggtgcacctcctctgtcctcTttggaaaaagataaagaaat							TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:32706407delT	ENST00000421745.2	+	38	7562	c.7428delT	c.(7426-7428)tctfs	p.S2476fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2476					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)					CTCTGTCCTCTTTGGAAAAAG	0.333																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(7426-7428)tcfs		baculoviral IAP repeat containing 6							96	106	103					2																	32706407		2203	4300	6503	SO:0001589	frameshift_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32706407delT	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.7428delT	2.37:g.32706407delT	ENSP00000393596:p.Ser2476fs						p.S2476fs	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			38	7562	+	Acute lymphoblastic leukemia(172;0.155)		2476					Q9ULD1	Frame_Shift_Del	DEL	ENST00000421745.2	37	c.7428delT	CCDS33175.2																																																																																				0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		10	105						10	105	---	---	---	---	-	32706407	T	-	32706407	7	5	255	1	0	1	0	1	0	0	0	0	1438	1596	56	0	7578	0	BIRC6	2	32706407	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08		32706407	210492966	4	28889											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	60	0	0	0	1	0	30	60					T	209113112	C	T	209113112	3	4	255	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	176406705	209113112	34086261	5	28890											
TIGIT	201633	broad.mit.edu	37	chr3	114026861	114026861	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccaggcagaagctgcAcctgctgggctctgtggaga	15	10	1	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	ENST00000486257.1	+	5	875	c.618A>G	c.(616-618)gcA>gcG	p.A206A	TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000481065.1_Silent_p.A273A			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	206					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						CAGAAGCTGCACCTGCTGGGC	0.572																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(817-819)gcA>gcG		T cell immunoreceptor with Ig and ITIM domains							98	95	96					3																	114026861		2203	4300	6503	SO:0001819	synonymous_variant	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114026861A>G	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.618A>G	3.37:g.114026861A>G						TIGIT_ENST00000486257.1_Silent_p.A206A|TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000496848.1_3'UTR	p.A273A			Q495A1	TIGIT_HUMAN			5	3434	+			206					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	37	c.819A>G	CCDS2980.1																																																																																				0.572	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		42	83	0	0	0	1	0	42	83					G	114026861	A	G	114026861	2	3	255	1	0	0	0	0	0	0	0	1	15899	146	6	3		3	TIGIT	3	114026861	Silent	SNP	A	TCGA-HT-7608-01A-11D-2086-08		114026861	83995569	6	28891											
ZBTB20	26137	broad.mit.edu	37	chr3	114058211	114058211	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtcaccatgtgctTgataaggtaatcctttaagg	11	6	1	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114058211T>G	ENST00000474710.1	-	5	2045	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q	ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000462705.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q|ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	623						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCATGTGCTTGATAAGGTAA	0.527																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1648-1650)Aag>Cag		zinc finger and BTB domain containing 20							155	132	140					3																	114058211		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058211T>G	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1867A>C	3.37:g.114058211T>G	ENSP00000419153:p.Lys623Gln					ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.K623Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q	p.K550Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2469	-			623					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1648A>C	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341378	0.60963	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18	6.17	6.17	0.99709	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	0.15349	0.0370	N	0.16201	0.385	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.26258	-1.0108	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	623	Q9HC78	ZBT20_HUMAN	Q	550;550;550;550;623;550;550	ENSP00000420324:K550Q;ENSP00000377375:K550Q;ENSP00000418092:K550Q;ENSP00000419902:K550Q;ENSP00000419153:K623Q;ENSP00000349803:K550Q;ENSP00000417307:K550Q	ENSP00000349803:K550Q	K	-	1	0	ZBTB20	115540901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	AAG		0.527	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	96	0	0	0	1	0	4	96					G	114058211	T	G	114058211	3	3	255	1	0	0	0	0	1	0	0	0	17526	1821	63	5	362	5	ZBTB20	3	114058211	Missense_Mutation	SNP	T	TCGA-HT-7608-01A-11D-2086-08	31350	114058211	83964219	7	28892											
MUC13	56667	broad.mit.edu	37	chr3	124632003	124632003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtagccgggcacgcacGcacactcaggggccccacca	12	18	1	0	rs148368651		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:124632003G>A	ENST00000311075.3	-	8	1204	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	390	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGCACGCACGCACACTCAGG	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18102	0.0		0.0	False		,,,				2504	0.0					ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1165-1167)gCg>gTg		mucin 13, cell surface associated		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	72	72	72		1166	-9.1	0	3	dbSNP_134	72	0,8600		0,0,4300	no	missense	MUC13	NM_033049.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	389/512	124632003	1,13005	2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124632003G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1166C>T	3.37:g.124632003G>A	ENSP00000312235:p.Ala389Val						p.A389V	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			8	1204	-			389			EGF-like 3.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.1166C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.474	0.455677	0.12283	2.27E-4	0.0	ENSG00000173702	ENST00000311075	D	0.86956	-2.19	4.52	-9.05	0.00730	EGF-like region, conserved site (1);	1.818730	0.02756	N	0.118035	T	0.66406	0.2786	N	0.05441	-0.05	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.59558	-0.7432	10	0.29301	T	0.29	0.3168	0.5017	0.00581	0.2112:0.2069:0.2843:0.2977	.	389	Q9H3R2	MUC13_HUMAN	V	389	ENSP00000312235:A389V	ENSP00000312235:A389V	A	-	2	0	MUC13	126114693	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.788000	0.01763	-2.422000	0.00563	-0.448000	0.05591	GCG		0.478	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		3	54	0	0	0	1	0	3	54					A	124632003	G	A	124632003	3	1	255	1	0	0	0	0	1	0	0	0	9971	1087	38	1	385	1	MUC13	3	124632003	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	10573792	124632003	73390427	8	28893											
OTOP1	133060	broad.mit.edu	37	chr4	4199681	4199681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggctgtcaactttgcGcccgatgttcttccacagga	10	12	2	1	rs537569170		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	ENST00000296358.4	-	5	904	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R294C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567																																						ENST00000296358.4																			1	Substitution - Missense(1)	p.R294C(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(880-882)Cgc>Tgc		otopetrin 1							75	67	70					4																	4199681		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199681G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.880C>T	4.37:g.4199681G>A	ENSP00000296358:p.Arg294Cys						p.R294C	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	904	-			294					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.880C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930309	0.52866	.	.	ENSG00000163982	ENST00000296358	T	0.26518	1.73	4.56	4.56	0.56223	.	0.106321	0.64402	D	0.000005	T	0.55625	0.1932	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64537	-0.6384	10	0.87932	D	0	.	17.7176	0.88342	0.0:0.0:1.0:0.0	.	294	Q7RTM1	OTOP1_HUMAN	C	294	ENSP00000296358:R294C	ENSP00000296358:R294C	R	-	1	0	OTOP1	4250582	1.000000	0.71417	0.947000	0.38551	0.303000	0.27691	4.941000	0.63540	2.270000	0.75569	0.404000	0.27445	CGC		0.567	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		29	71	0	0	0	1	0	29	71					A	4199681	G	A	4199681	3	1	255	1	0	0	0	0	1	0	0	0	11305	1087	38	1	966	1	OTOP1	4	4199681	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		4199681	186954595	9	28894											
SLC34A2	10568	broad.mit.edu	37	chr4	25677957	25677957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgctggccggctggcgGgtgctggttggtgtcggggt	20	10	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:25677957G>A	ENST00000382051.3	+	13	1709	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R	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	553					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)				CCGGCTGGCGGGTGCTGGTTG	0.597			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1657-1659)cgG>cgA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							117	113	114					4																	25677957		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677957G>A	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.1659G>A	4.37:g.25677957G>A						SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R	p.R553R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1709	+		Breast(46;0.0503)	553					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1659G>A	CCDS3435.1																																																																																				0.597	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		6	145	0	0	0	1	0	6	145					A	25677957	G	A	25677957	2	1	255	1	0	0	0	0	0	0	0	1	14568	1219	43	2		2	SLC34A2	4	25677957	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	21478276	25677957	165476319	10	28895											
UGT2B28	54490	broad.mit.edu	37	chr4	70146857	70146857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatggagagggtaaaaaaCatgatctatgtgctttattt	9	4	2	2	rs542781153		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GGGTAAAAAACATGATCTATG	0.348													-|||	1	0.000199681	0.0	0.0	5008	,	,		15689	0.0		0.001	False		,,,				2504	0.0					ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(637-639)aaC>aaT		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						68	72	71					4																	70146857		2027	4227	6254	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146857C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.639C>T	4.37:g.70146857C>T						UGT2B28_ENST00000511240.1_Silent_p.N213N	p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	641	+			213					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.639C>T	CCDS3528.1																																																																																				0.348	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		4	79	0	0	0	1	0	4	79					T	70146857	C	T	70146857	2	4	255	1	0	0	0	0	0	0	0	1	16957	477	17	2		2	UGT2B28	4	70146857	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	44468900	70146857	121007419	11	28896											
IL17F	112744	broad.mit.edu	37	chr6	52103580	52103580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttacgtgacatggaaaCgcgctggttttcattgatga	12	6	1	3	rs569473195		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	ENST00000336123.4	-	2	309	c.202G>A	c.(202-204)Gtt>Att	p.V68I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	68					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.001					ENST00000336123.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14						c.(202-204)Gtt>Att		interleukin 17F							84	84	84					6																	52103580		2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52103580C>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"Interleukins and interleukin receptors"	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.202G>A	6.37:g.52103580C>T	ENSP00000337432:p.Val68Ile						p.V68I	NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN			2	309	-	Lung NSC(77;0.116)		68					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.202G>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173284	0.21704	.	.	ENSG00000112116	ENST00000336123	T	0.55760	0.5	5.76	-1.6	0.08426	.	1.435930	0.04059	N	0.306083	T	0.08935	0.0221	N	0.04508	-0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.08911	-1.0699	10	0.13470	T	0.59	-0.858	6.0271	0.19660	0.1256:0.5101:0.0:0.3643	.	68	Q96PD4	IL17F_HUMAN	I	68	ENSP00000337432:V68I	ENSP00000337432:V68I	V	-	1	0	IL17F	52211539	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.096000	0.01349	-0.230000	0.09840	0.650000	0.86243	GTT		0.448	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		26	39	0	0	0	1	0	26	39					T	52103580	C	T	52103580	3	4	255	1	0	0	0	0	1	0	0	0	7638	536	19	1	297	1	IL17F	6	52103580	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		52103580	119011487	12	28897											
PTPRK	5796	broad.mit.edu	37	chr6	128297888	128297888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttggatggggccatAtcgtagcatcccttcctctg	9	13	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:128297888A>G	ENST00000368215.3	-	27	3879	c.3880T>C	c.(3880-3882)Tat>Cat	p.Y1294H	PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H|PTPRK_ENST00000368227.3_Missense_Mutation_p.Y1312H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1294	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		ATGGGGCCATATCGTAGCATC	0.398																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				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						c.(3934-3936)Tat>Cat		protein tyrosine phosphatase, receptor type, K							94	82	86					6																	128297888		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128297888A>G	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.3880T>C	6.37:g.128297888A>G	ENSP00000357198:p.Tyr1294His					PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H|PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H|PTPRK_ENST00000368215.3_Missense_Mutation_p.Y1294H	p.Y1312H			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	28	4300	-			1294			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3934T>C		.	.	.	.	.	.	.	.	.	.	A	18.78	3.697606	0.68386	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.56	5.56	0.83823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	L	0.58925	1.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.83275	0.996;0.993;0.987;0.978	T	0.01630	-1.1308	10	0.48119	T	0.1	.	15.9985	0.80270	1.0:0.0:0.0:0.0	.	1317;1301;1294;1295	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	H	1295;1312;1317;1301;1313;1294;1327	ENSP00000357209:Y1295H;ENSP00000357210:Y1312H;ENSP00000432973:Y1317H;ENSP00000357196:Y1301H;ENSP00000357193:Y1313H;ENSP00000357198:Y1294H;ENSP00000357190:Y1327H	ENSP00000357190:Y1327H	Y	-	1	0	PTPRK	128339581	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.526000	0.81920	2.237000	0.73441	0.533000	0.62120	TAT		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			3	63	0	0	0	1	0	3	63					G	128297888	A	G	128297888	3	3	255	1	0	0	0	0	1	0	0	0	12805	449	16	3	455	3	PTPRK	6	128297888	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	76194308	128297888	42817179	13	28898											
AP1S1	1174	broad.mit.edu	37	chr7	100799992	100799992	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctcatgcaggttgtcctgGctcgaaagcccaagatgtgc	12	11	1	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	ENST00000337619.5	+	2	239	c.121G>C	c.(121-123)Gct>Cct	p.A41P	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	41					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)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|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)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(121-123)Gct>Cct		adaptor-related protein complex 1, sigma 1 subunit							45	50	48					7																	100799992		2045	4182	6227	SO:0001583	missense	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100799992G>C	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit"	603531	"erythrokeratodermia variabilis 3 (Kamouraska type)"	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.121G>C	7.37:g.100799992G>C	ENSP00000336666:p.Ala41Pro						p.A41P	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			2	239	+	Lung NSC(181;0.168)|all_lung(186;0.215)		41					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	c.121G>C	CCDS47669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.573490|3.573490	0.65765|0.65765	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000337619|ENST00000429457	.|.	.|.	.|.	5.84|5.84	4.95|4.95	0.65309|0.65309	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70202|0.70202	0.3197|0.3197	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	B|.	0.15930|.	0.015|.	B|.	0.19666|.	0.026|.	T|T	0.69510|0.69510	-0.5126|-0.5126	9|5	0.33141|.	T|.	0.24|.	-3.6843|-3.6843	14.1441|14.1441	0.65339|0.65339	0.0:0.0:0.8489:0.1511|0.0:0.0:0.8489:0.1511	.|.	41|.	P61966|.	AP1S1_HUMAN|.	P|C	41|82	.|.	ENSP00000336666:A41P|.	A|W	+|+	1|3	0|0	AP1S1|AP1S1	100586712|100586712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.379000|7.379000	0.79691|0.79691	1.453000|1.453000	0.47775|0.47775	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.537	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		4	17	0	0	0	1	0	4	17					C	100799992	G	C	100799992	3	2	255	1	0	0	0	0	1	0	0	0	736	1203	42	4	127	4	AP1S1	7	100799992	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		100799992	58338671	14	28899											
C8orf73	642475	broad.mit.edu	37	chr8	144652155	144652155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatagccgtgagacgctgcGggtcgtccgcgctgcgaagc	15	14	0	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr8:144652155G>T	ENST00000398882.3	-	7	1380	c.1124C>A	c.(1123-1125)cCg>cAg	p.P375Q	MROH6_ENST00000534459.1_5'Flank|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000524906.1_5'Flank|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	375	Leu-rich.																GAGACGCTGCGGGTCGTCCGC	0.647																																						ENST00000398882.3																			0											c.(1123-1125)cCg>cAg		maestro heat-like repeat family member 6							48	61	57					8																	144652155		2114	4217	6331	SO:0001583	missense	642475							g.chr8:144652155G>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1124C>A	8.37:g.144652155G>T	ENSP00000381857:p.Pro375Gln						p.P375Q	NM_001100878.1	NP_001094348.1					7	1380	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1124C>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	g	3.166	-0.171004	0.06421	.	.	ENSG00000204839	ENST00000398882	T	0.39997	1.05	5.23	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	1.203110	0.06119	N	0.668506	T	0.25754	0.0627	N	0.03608	-0.345	0.09310	N	0.999995	B	0.33940	0.433	B	0.37144	0.242	T	0.30995	-0.9959	10	0.14252	T	0.57	-14.3954	12.8674	0.57948	0.1483:0.0:0.8517:0.0	.	375	A6NGR9	CH073_HUMAN	Q	375	ENSP00000381857:P375Q	ENSP00000381857:P375Q	P	-	2	0	C8orf73	144723298	0.000000	0.05858	0.041000	0.18516	0.043000	0.13939	0.499000	0.22546	0.225000	0.20959	-2.151000	0.00333	CCG		0.647	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		3	70	1	0	1	1	1	3	70					T	144652155	G	T	144652155	3	4	255	1	0	0	0	0	1	0	0	0	2435	1116	39	4	1067	4	C8orf73	8	144652155	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		144652155	1711867	15	28900											
KCNK18	338567	broad.mit.edu	37	chr10	118957048	118957048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgctgcccagaggccCtgggaaagctcttccctggc	14	13	1	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	ENST00000334549.1	+	1	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	17					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(49-51)Ctg>Ttg		potassium channel, subfamily K, member 18							72	66	68					10																	118957048		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118957048C>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	19439	protein-coding gene	gene with protein product	"TWIK related spinal cord K+ channel"	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.49C>T	10.37:g.118957048C>T							p.L17L	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	49	+		Colorectal(252;0.19)	17					Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.49C>T	CCDS7598.1																																																																																				0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		4	68	0	0	0	1	0	4	68					T	118957048	C	T	118957048	2	4	255	1	0	0	0	0	0	0	0	1	8065	680	24	2		2	KCNK18	10	118957048	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		118957048	16577699	16	28901											
PRPF40B	25766	broad.mit.edu	37	chr12	50036431	50036431	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagtcggagcggatccggctCttccgggagttcctacaggt	15	11	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	ENST00000380281.1	+	20	2089	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	PRPF40B_ENST00000548825.2_Silent_p.L697L|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Silent_p.L662L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	675	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1984-1986)ctC>ctG		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							89	78	81					12																	50036431		2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036431C>G	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2025C>G	12.37:g.50036431C>G						PRPF40B_ENST00000380281.1_Silent_p.L675L|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Silent_p.L697L	p.L662L			Q6NWY9	PR40B_HUMAN			20	2537	+			675					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1986C>G																																																																																					0.557	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		25	24	0	0	0	1	0	25	24					G	50036431	C	G	50036431	2	3	255	1	0	0	0	0	0	0	0	1	12572	900	32	4		4	PRPF40B	12	50036431	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		50036431	83815464	17	28902											
PRIM1	5557	broad.mit.edu	37	chr12	57136804	57136804	+	Frame_Shift_Del	DEL	T	T	-													ggctaaaatcttatcccagcTttctttattttcgagaatat							TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:57136804delT	ENST00000338193.6	-	7	751	c.715delA	c.(715-717)agcfs	p.S239fs		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	239					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TTATCCCAGCTTTCTTTATTT	0.299																																						ENST00000338193.6																			0				kidney(1)|lung(6)|prostate(1)	8						c.(715-717)gcfs		primase, DNA, polypeptide 1 (49kDa)							58	49	52					12																	57136804		1797	4046	5843	SO:0001589	frameshift_variant	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57136804delT	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.715delA	12.37:g.57136804delT	ENSP00000350491:p.Ser239fs						p.S239fs	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN			7	751	-			239						Frame_Shift_Del	DEL	ENST00000338193.6	37	c.715delA	CCDS44926.1																																																																																				0.299	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		2	4						2	4	---	---	---	---	-	57136804	T	-	57136804	7	5	255	1	0	1	0	1	0	0	0	0	12490	1609	56	0	575	0	PRIM1	12	57136804	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08	7100373	57136804	76715091	18	28903											
C12orf12	196477	broad.mit.edu	37	chr12	91347873	91347873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaccgtggccttctgcGcccgcagcgcctcctgctga	11	19	2	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:91347873G>A	ENST00000358859.2	-	1	1080	c.647C>T	c.(646-648)gCg>gTg	p.A216V	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	216																	GGCCTTCTGCGCCCGCAGCGC	0.647																																						ENST00000358859.2																			0											c.(646-648)gCg>gTg		coiled-coil glutamate-rich protein 1							84	91	89					12																	91347873		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347873G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.647C>T	12.37:g.91347873G>A	ENSP00000351727:p.Ala216Val					CCER1_ENST00000548187.1_Intron	p.A216V	NM_152638.2	NP_689851.1					1	1080	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.647C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674112	0.14841	.	.	ENSG00000197651	ENST00000358859	T	0.35789	1.29	4.03	2.12	0.27331	.	0.264374	0.20117	N	0.098891	T	0.17408	0.0418	N	0.14661	0.345	0.26941	N	0.966244	B	0.26902	0.163	B	0.20384	0.029	T	0.13980	-1.0489	10	0.30078	T	0.28	-9.1982	5.8731	0.18814	0.1035:0.0:0.7079:0.1886	.	216	Q8TC90	CL012_HUMAN	V	216	ENSP00000351727:A216V	ENSP00000351727:A216V	A	-	2	0	C12orf12	89872004	0.001000	0.12720	0.950000	0.38849	0.015000	0.08874	0.278000	0.18753	0.312000	0.23038	-0.657000	0.03884	GCG		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		4	109	0	0	0	1	0	4	109					A	91347873	G	A	91347873	3	1	255	1	0	0	0	0	1	0	0	0	1676	1087	38	1	577	1	C12orf12	12	91347873	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	34211069	91347873	42504022	19	28904											
EIF2B1	1967	broad.mit.edu	37	chr12	124111689	124111689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccactctggagtaggcGtgagtcaatattgtctgtgg	14	7	3	1	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	ENST00000424014.2	-	5	592	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_ENST00000537073.1_Silent_p.H128H|EIF2B1_ENST00000539951.1_Silent_p.H115H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	128					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)		TGGAGTAGGCGTGAGTCAATA	0.562																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(382-384)caC>caT		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa		G		0,4406		0,0,2203	112	96	101		384	-4	0.9	12	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	EIF2B1	NM_001414.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		128/306	124111689	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124111689G>A	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.384C>T	12.37:g.124111689G>A						EIF2B1_ENST00000539951.1_Silent_p.H115H|EIF2B1_ENST00000537073.1_Silent_p.H128H	p.H128H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	5	592	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		128					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.384C>T	CCDS31924.1																																																																																				0.562	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		8	120	0	0	0	1	0	8	120					A	124111689	G	A	124111689	2	1	255	1	0	0	0	0	0	0	0	1	5000	1136	40	1		1	EIF2B1	12	124111689	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	32763816	124111689	9740206	20	28905											
TSHR	7253	broad.mit.edu	37	chr14	81609744	81609744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccactacaaactgaacGtcccccgctttctcatgtgc	6	17	1	1	rs201889708	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	ENST00000541158.2	+	11	1664	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	TSHR_ENST00000298171.2_Missense_Mutation_p.V448I|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	448					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|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)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						G|||	2	0.000399361	0.0008	0.0	5008	,	,		21223	0.0		0.0	False		,,,				2504	0.001					ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1342-1344)Gtc>Atc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						701	559	607					14																	81609744		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609744G>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1342G>A	14.37:g.81609744G>A	ENSP00000441235:p.Val448Ile					TSHR_ENST00000298171.2_Missense_Mutation_p.V448I|RP11-114N19.3_ENST00000557775.1_RNA	p.V448I			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	1664	+			448					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1342G>A	CCDS9872.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.8	4.573917	0.86542	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.89415	-2.51;-2.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94181	0.7432	10	0.87932	D	0	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	448	F5GYU5	.	I	448;95;448	ENSP00000441235:V448I;ENSP00000298171:V448I	ENSP00000298171:V448I	V	+	1	0	TSHR	80679497	1.000000	0.71417	0.949000	0.38748	0.793000	0.44817	9.869000	0.99810	2.720000	0.93068	0.561000	0.74099	GTC		0.517	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		12	163	0	0	0	1	0	12	163					A	81609744	G	A	81609744	3	1	255	1	0	0	0	0	1	0	0	0	16619	1145	40	1	1517	1	TSHR	14	81609744	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		81609744	25739796	21	28906											
BTBD1	53339	broad.mit.edu	37	chr15	83687454	83687457	+	Splice_Site	DEL	CTTA	CTTA	-													ctggaacatagtgcatgactCttactttgagtgttgcacat							TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:83687454_83687457delCTTA	ENST00000261721.4	-	7	1493		c.e7+1		RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Splice_Site	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1						protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTGCATGACTCTTACTTTGAGTGT	0.441																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.e7+1		BTB (POZ) domain containing 1																																				SO:0001630	splice_region_variant	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83687454_83687457delCTTA	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1290+1TAAG>-	15.37:g.83687454_83687457delCTTA						RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Splice_Site|RP11-382A20.5_ENST00000566841.1_RNA		NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	7	1493	-								A6NMI8|Q9BX71|Q9NWN4	Splice_Site	DEL	ENST00000261721.4	37		CCDS10322.1																																																																																				0.441	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		Intron	22	55						22	55	---	---	---	---	-	83687457	CTTA	-	83687454	8	5	255	1	0	1	0	1	0	0	1	0	1537	928	32	0		0	BTBD1	15	83687454	Splice_Site	DEL	CTTA	TCGA-HT-7608-01A-11D-2086-08		83687454	18843938	22	28907											
KLHL25	64410	broad.mit.edu	37	chr15	86312652	86312652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcatcccgcacatcGtggaactgcagcatgtcgcc	12	15	0	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	ENST00000337975.5	-	2	664	c.390C>T	c.(388-390)caC>caT	p.H130H	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.H130H	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	130					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(388-390)caC>caT		kelch-like family member 25							94	87	90					15																	86312652		2202	4299	6501	SO:0001819	synonymous_variant	64410					cytoplasm		g.chr15:86312652G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.390C>T	15.37:g.86312652G>A						KLHL25_ENST00000536947.1_Silent_p.H130H|KLHL25_ENST00000559131.1_Intron	p.H130H	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	664	-			130					B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	c.390C>T	CCDS10339.1																																																																																				0.622	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		10	53	0	0	0	1	0	10	53					A	86312652	G	A	86312652	2	1	255	1	0	0	0	0	0	0	0	1	8380	1136	40	1		1	KLHL25	15	86312652	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	2625198	86312652	16218740	23	28908											
MYH10	4628	broad.mit.edu	37	chr17	8449945	8449945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgagtaaactccatcaCattcatcccaagaagatggc	8	13	2	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:8449945C>A	ENST00000269243.4	-	11	1303	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	MYH10_ENST00000396239.1_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.V399L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	389	Myosin motor.				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						AACTCCATCACATTCATCCCA	0.433																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1195-1197)Gtg>Ttg		myosin, heavy chain 10, non-muscle							90	82	85					17																	8449945		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8449945C>A	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.1165G>T	17.37:g.8449945C>A	ENSP00000269243:p.Val389Leu					MYH10_ENST00000269243.4_Missense_Mutation_p.V389L|MYH10_ENST00000396239.1_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L	p.V399L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			12	1333	-			389			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1195G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886574	0.72410	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.059989	0.64402	D	0.000003	T	0.82226	0.4991	L	0.39566	1.225	0.58432	D	0.999999	B;B;B	0.30511	0.001;0.282;0.033	B;B;B	0.33750	0.007;0.169;0.03	T	0.79179	-0.1910	10	0.36615	T	0.2	.	12.1169	0.53870	0.0:0.9217:0.0:0.0783	.	398;399;389	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	L	389;399;389;405	ENSP00000269243:V389L;ENSP00000353590:V399L;ENSP00000379539:V389L;ENSP00000369315:V405L	ENSP00000269243:V389L	V	-	1	0	MYH10	8390670	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.933000	0.70130	2.726000	0.93360	0.650000	0.86243	GTG		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	55	1	0	1	1	1	3	55					A	8449945	C	A	8449945	3	1	255	1	0	0	0	0	1	0	0	0	10030	478	17	4	4889	4	MYH10	17	8449945	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		8449945	72745265	24	28909											
MYH8	4626	broad.mit.edu	37	chr17	10299697	10299697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttctcttgttctacttGcttctttattttctccaatt	2	10	4	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	ENST00000403437.2	-	33	4697	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	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	1535					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						TGTTCTACTTGCTTCTTTATT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(4603-4605)Caa>Taa		myosin, heavy chain 8, skeletal muscle, perinatal							167	147	154					17																	10299697		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299697G>A		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.4603C>T	17.37:g.10299697G>A	ENSP00000384330:p.Gln1535*					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.Q1535*	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			33	4697	-			1535					Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.4603C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	43	10.152561	0.99348	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.26	5.26	0.73747	.	0.000000	0.40144	U	0.001177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.0697	0.93127	0.0:0.0:1.0:0.0	.	.	.	.	X	1535	.	ENSP00000252173:Q1535X	Q	-	1	0	MYH8	10240422	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	2.744000	0.94065	0.650000	0.86243	CAA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		5	24	0	0	0	1	0	5	24					A	10299697	G	A	10299697	4	1	255	1	0	0	0	0	0	1	0	0	10041	1328	46	2	1242	2	MYH8	17	10299697	Nonsense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1849752	10299697	70895513	25	28910											
NF1	4763	broad.mit.edu	37	chr17	29562639	29562639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctcaggatgaactagCtcgagttctggttactctgt	10	8	3	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:29562639C>G	ENST00000358273.4	+	28	4102	c.3719C>G	c.(3718-3720)gCt>gGt	p.A1240G	NF1_ENST00000356175.3_Missense_Mutation_p.A1240G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1240	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.?(4)	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)		GATGAACTAGCTCGAGTTCTG	0.383			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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						c.(3718-3720)gCt>gGt		neurofibromin 1							227	220	222					17																	29562639		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562639C>G		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.3719C>G	17.37:g.29562639C>G	ENSP00000351015:p.Ala1240Gly	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.A1240G	p.A1240G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	28	4102	+		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)	1240			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3719C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460651	0.84317	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.83914	-1.78;-1.78;-1.78	5.79	4.82	0.62117	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (2);	0.109289	0.64402	D	0.000007	D	0.92156	0.7513	M	0.91612	3.225	0.80722	D	1	D;P;P;D	0.69078	0.997;0.677;0.844;0.988	D;B;P;P	0.68039	0.955;0.253;0.501;0.905	D	0.93270	0.6651	10	0.52906	T	0.07	.	14.8494	0.70284	0.0:0.9313:0.0:0.0687	.	1240;290;1240;1240	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	G	1240;1240;906	ENSP00000351015:A1240G;ENSP00000348498:A1240G;ENSP00000389907:A906G	ENSP00000348498:A1240G	A	+	2	0	NF1	26586765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.336000	0.79245	1.466000	0.48025	0.555000	0.69702	GCT		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	250	0	0	0	1	0	10	250					G	29562639	C	G	29562639	3	3	255	1	0	0	0	0	1	0	0	0	10356	797	28	4	3890	4	NF1	17	29562639	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	19262942	29562639	51632571	26	28911											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	13	15	2	1	rs138271368	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75	75	75		613	2.7	1	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		13	69	0	0	0	1	0	13	69					T	39673185	C	T	39673185	3	4	255	1	0	0	0	0	1	0	0	0	8452	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	10110546	39673185	41522025	27	28912											
POTEC	388468	broad.mit.edu	37	chr18	14543092	14543092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatcttgctcctgagatcGaatggcttcttcacagcaga	8	13	3	2	rs45502401	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr18:14543092G>A	ENST00000358970.5	-	1	53	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(52-54)ttC>ttT		POTE ankyrin domain family, member C							125	104	111					18																	14543092		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14543092G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.54C>T	18.37:g.14543092G>A						POTEC_ENST00000389891.4_5'UTR	p.F18F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	53	-			18						Silent	SNP	ENST00000358970.5	37	c.54C>T	CCDS45835.1																																																																																				0.572	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	114	0	0	0	1	0	5	114					A	14543092	G	A	14543092	2	1	255	1	0	0	0	0	0	0	0	1	12262	1049	37	1		1	POTEC	18	14543092	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		14543092	63534156	28	28913											
DNM2	1785	broad.mit.edu	37	chr19	10908139	10908139	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagagccgagtttgaagtGtgttgatctcgtggtctcag	13	7	2	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:10908139G>T	ENST00000355667.6	+	11	1415				DNM2_ENST00000359692.6_Intron|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000314646.5_Missense_Mutation_p.C427F	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTTTGAAGTGTGTTGATCTC	0.517			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1279-1281)tGt>tTt		dynamin 2							119	105	110					19																	10908139		2203	4300	6503	SO:0001627	intron_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10908139G>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1336-1023G>T	19.37:g.10908139G>T						DNM2_ENST00000585892.1_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000355667.6_Intron	p.C427F			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1444	+			427					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1280G>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495179	0.85069	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000389253;ENST00000314646	T;T;T	0.75367	-0.93;-0.93;-0.93	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	H	0.96889	3.9	0.80722	D	1	P;P;D	0.89917	0.729;0.491;1.0	B;B;D	0.91635	0.429;0.429;0.999	D	0.93943	0.7225	10	0.87932	D	0	-2.179	18.0235	0.89262	0.0:0.0:1.0:0.0	.	160;427;427	B4DJ53;A8K1B6;E9PEQ4	.;.;.	F	416;427;427;427	ENSP00000386192:C427F;ENSP00000373905:C427F;ENSP00000313164:C427F	ENSP00000313164:C427F	C	+	2	0	DNM2	10769139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.557000	0.86248	0.655000	0.94253	TGT		0.517	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		19	63	1	0	6.44725e-10	1	6.75426e-10	19	63					T	10908139	G	T	10908139	1	4	255	0	1	0	0	0	0	0	0	0	4672	1377	48	4		4	DNM2	19	10908139	Intron	SNP	G	TCGA-HT-7608-01A-11D-2086-08		10908139	48220844	29	28914											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					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.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	138	0	0	0	1	0	5	138					A	12575498	G	A	12575498	3	1	255	1	0	0	0	0	1	0	0	0	18110	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1667359	12575498	46553485	30	28915											
AXL	558	broad.mit.edu	37	chr19	41763470	41763470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccgggcgtggagaacagcGagatttatgactatctgcgc	13	9	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	ENST00000301178.4	+	19	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_ENST00000593513.1_Missense_Mutation_p.E489K|AXL_ENST00000359092.3_Missense_Mutation_p.E748K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2269-2271)Gag>Aag		AXL receptor tyrosine kinase							143	129	134					19																	41763470		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41763470G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2269G>A	19.37:g.41763470G>A	ENSP00000301178:p.Glu757Lys					AXL_ENST00000359092.3_Missense_Mutation_p.E748K|AXL_ENST00000593513.1_Missense_Mutation_p.E489K	p.E757K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			19	2459	+			757			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2269G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749904	0.96890	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.83163	-1.69;-1.69	4.89	4.89	0.63831	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	0.87896	0.6293	L	0.52206	1.635	0.49213	D	0.999761	D;D	0.89917	1.0;1.0	P;P	0.62740	0.849;0.906	D	0.88917	0.3363	10	0.87932	D	0	-27.8781	17.3451	0.87308	0.0:0.0:1.0:0.0	.	748;757	P30530-2;P30530	.;UFO_HUMAN	K	757;748	ENSP00000301178:E757K;ENSP00000351995:E748K	ENSP00000301178:E757K	E	+	1	0	AXL	46455310	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.478000	0.97927	2.706000	0.92434	0.650000	0.86243	GAG		0.557	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	98	0	0	0	1	0	5	98					A	41763470	G	A	41763470	3	1	255	1	0	0	0	0	1	0	0	0	1238	1059	37	1	2343	1	AXL	19	41763470	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	29187972	41763470	17365513	31	28916											
CIC	23152	broad.mit.edu	37	chr19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	AG	-													gtggtgcaacaaggaccgaaAgaagtccagctcagaggcca							TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	ENST00000575354.2	+	6	864_865	c.824_825delAG	c.(823-825)aagfs	p.K276fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.K1185fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	276					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)				AAGGACCGAAAGAAGTCCAGCT	0.649			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3550-3552)afs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792020_42792021delAG	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.824_825delAG	19.37:g.42792020_42792021delAG	ENSP00000458663:p.Lys276fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.K276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs	p.K1185fs			Q96RK0	CIC_HUMAN			7	3619_3620	+		Prostate(69;0.00682)	276			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3551_3552delAG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	5						5	5	---	---	---	---	-	42792021	AG	-	42792020	7	5	255	1	0	1	0	1	0	0	0	0	3424	72	3	0	846	0	CIC	19	42792020	Frame_Shift_Del	DEL	AG	TCGA-HT-7608-01A-11D-2086-08	1028550	42792020	16336963	32	28917											
RIPK4	54101	broad.mit.edu	37	chr21	43161859	43161859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtcctcatccttggcGttgacactgatcttccgcgc	9	15	2	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr21:43161859G>A	ENST00000352483.2	-	9	1702	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Silent_p.N435N|RIPK4_ENST00000332512.3_Silent_p.N498N|RIPK4_ENST00000544709.1_Silent_p.N435N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	546					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						CATCCTTGGCGTTGACACTGA	0.632																																						ENST00000352483.2																			0				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						c.(1636-1638)aaC>aaT		receptor-interacting serine-threonine kinase 4							115	95	102					21																	43161859		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161859G>A	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.1638C>T	21.37:g.43161859G>A						RIPK4_ENST00000332512.3_Silent_p.N498N|RIPK4_ENST00000544709.1_Silent_p.N435N|RIPK4_ENST00000542057.1_Silent_p.N435N	p.N546N			Q96T11	Q96T11_HUMAN			9	1702	-			498					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1638C>T																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		8	102	0	0	0	1	0	8	102					A	43161859	G	A	43161859	2	1	255	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161859	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		43161859	4968036	33	28918											
TOP3B	8940	broad.mit.edu	37	chr22	22322990	22322990	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatagagaaaggcaaggaaCcttggcctgcagcacccagt	12	10	0	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	ENST00000398793.2	-	7	1173		c.e7+1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						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)		AGGCAAGGAACCTTGGCCTGC	0.552																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.e7+1		topoisomerase (DNA) III beta							113	111	112					22																	22322990		2203	4300	6503	SO:0001630	splice_region_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322990C>A	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.738+1G>T	22.37:g.22322990C>A						TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site		NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	7	1173	-	Colorectal(54;0.105)							A0M8Q3|Q9BUP5	Splice_Site	SNP	ENST00000398793.2	37		CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245986	0.80024	.	.	ENSG00000100038	ENST00000357179;ENST00000457270;ENST00000398793	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5693	0.91129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3B	20652990	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.603000	0.82811	2.613000	0.88420	0.555000	0.69702	.		0.552	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	Intron	19	58	1	0	5.26018e-13	1	5.64507e-13	19	58					A	22322990	C	A	22322990	5	1	255	1	0	0	0	0	0	0	1	0	16365	521	18	4	1897	4	TOP3B	22	22322990	Splice_Site	SNP	C	TCGA-HT-7608-01A-11D-2086-08		22322990	28981576	34	28919											
RASD2	23551	broad.mit.edu	37	chr22	35947956	35947956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcgtcaaggagatggaCgcctatggcatggtctcgcc	14	13	2	1	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	ENST00000216127.4	+	3	1320	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	226	Interaction with GNB1, GNB2 and GNB3.				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)	p.D226D(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642																																						ENST00000216127.4																			1	Substitution - coding silent(1)	p.D226D(1)	prostate(1)	endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(676-678)gaC>gaT		RASD family, member 2		C		1,4405	2.1+/-5.4	0,1,2202	89	74	79		678	-0.2	0.8	22	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	RASD2	NM_014310.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		226/267	35947956	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947956C>T	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.678C>T	22.37:g.35947956C>T							p.D226D	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1320	+			226			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Silent	SNP	ENST00000216127.4	37	c.678C>T	CCDS13916.1																																																																																				0.642	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		21	44	0	0	0	1	0	21	44					T	35947956	C	T	35947956	2	4	255	1	0	0	0	0	0	0	0	1	13067	535	19	1		1	RASD2	22	35947956	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	13624966	35947956	15356610	35	28920											
CACNA1F	778	broad.mit.edu	37	chrX	49063294	49063294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacgggggagtccctgCctgctcatctaggtaggaaa	14	10	2	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chrX:49063294C>T	ENST00000376265.2	-	45	5348	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1763					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)	GGAGTCCCTGCCTGCTCATCT	0.637																																						ENST00000376265.2																			0				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						c.(5287-5289)Gca>Aca		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						53	51	52					X																	49063294		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063294C>T	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.5287G>A	X.37:g.49063294C>T	ENSP00000365441:p.Ala1763Thr					CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T	p.A1763T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			45	5348	-			1763					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5287G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663177	0.29515	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	5.6	-1.74	0.08056	.	2.110680	0.02198	N	0.061997	D	0.90731	0.7091	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.82621	-0.0367	10	0.22706	T	0.39	.	5.251	0.15522	0.0:0.3203:0.2093:0.4704	.	1752;1763	F5CIQ9;O60840	.;CAC1F_HUMAN	T	1698;1752;1763	ENSP00000365427:A1698T;ENSP00000321618:A1752T;ENSP00000365441:A1763T	ENSP00000321618:A1752T	A	-	1	0	CACNA1F	48950238	0.000000	0.05858	0.117000	0.21633	0.733000	0.41908	-1.190000	0.03058	-0.047000	0.13423	-0.295000	0.09555	GCA		0.637	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		3	37	0	0	0	1	0	3	37					T	49063294	C	T	49063294	3	4	255	1	0	0	0	0	1	0	0	0	2543	739	26	2	662	2	CACNA1F	23	49063294	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		49063294	106207266	36	28921											
NPR1	4881	broad.mit.edu	37	chr1	153654206	153654206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcccagcatccttccaCgacgggctcctgctctatat	6	17	1	0	rs148390726		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:153654206C>T	ENST00000368680.3	+	4	1534	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	NPR1_ENST00000413826.1_3'UTR	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	354					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)	CATCCTTCCACGACGGGCTCC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				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						c.(1060-1062)caC>caT		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	C		4,4402	8.1+/-20.4	0,4,2199	85	75	78		1062	-4.4	0.9	1	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	NPR1	NM_000906.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		354/1062	153654206	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153654206C>T	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.1062C>T	1.37:g.153654206C>T						NPR1_ENST00000413826.1_3'UTR	p.H354H	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	1534	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		354					B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1062C>T	CCDS1051.1																																																																																				0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		6	99	0	0	0	1	0	6	99					T	153654206	C	T	153654206	2	4	256	1	0	0	0	0	0	0	0	1	10594	535	19	1		1	NPR1	1	153654206	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		153654206	95596415	1	28922											
TNNI1	7135	broad.mit.edu	37	chr1	201382170	201382170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagactcacctccctggtgTtgtggaggcatttggcctca	11	11	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:201382170T>C	ENST00000361379.4	-	6	361	c.269A>G	c.(268-270)aAc>aGc	p.N90S	TNNI1_ENST00000336092.4_Missense_Mutation_p.N90S|TNNI1_ENST00000367312.1_Missense_Mutation_p.N90S|TNNI1_ENST00000555948.1_Intron	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	90					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCCCTGGTGTTGTGGAGGCA	0.622																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(268-270)aAc>aGc		troponin I type 1 (skeletal, slow)							328	295	306					1																	201382170		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201382170T>C	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"troponin I, skeletal, slow"			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.269A>G	1.37:g.201382170T>C	ENSP00000354488:p.Asn90Ser					TNNI1_ENST00000336092.4_Missense_Mutation_p.N90S|TNNI1_ENST00000367312.1_Missense_Mutation_p.N90S|TNNI1_ENST00000555948.1_Intron	p.N90S	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			6	361	-			90					A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.269A>G	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.197183	0.58126	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	L	0.45228	1.405	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.93965	0.7244	10	0.25106	T	0.35	-4.793	14.8971	0.70651	0.0:0.0:0.0:1.0	.	90	P19237	TNNI1_HUMAN	S	90;90;90;90;90;69;90	ENSP00000354488:N90S;ENSP00000337022:N90S;ENSP00000356281:N90S;ENSP00000451660:N69S;ENSP00000451776:N90S	ENSP00000337022:N90S	N	-	2	0	TNNI1	199648793	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.939000	0.70179	1.932000	0.55993	0.459000	0.35465	AAC		0.622	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		18	396	0	0	0	1	0	18	396					C	201382170	T	C	201382170	3	2	256	1	0	0	0	0	1	0	0	0	16323	1725	60	3	306	3	TNNI1	1	201382170	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	47727964	201382170	47868451	2	28923											
TFCP2L1	29842	broad.mit.edu	37	chr2	121991692	121991692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctgtctccactgccGtcccgcttctgctgcagggg	13	14	2	0	rs140466557	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:121991692G>A	ENST00000263707.5	-	12	1270	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	391					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)					CTCCACTGCCGTCCCGCTTCT	0.572													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20146	0.0		0.0	False		,,,				2504	0.0					ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(1171-1173)gaC>gaT		transcription factor CP2-like 1		G		2,4404	4.2+/-10.8	0,2,2201	106	95	99		1173	-11.6	0	2	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	TFCP2L1	NM_014553.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		391/480	121991692	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121991692G>A	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.1173C>T	2.37:g.121991692G>A							p.D391D	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			12	1270	-	Renal(3;0.01)		391					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.1173C>T	CCDS2134.1																																																																																				0.572	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		14	119	0	0	0	1	0	14	119					A	121991692	G	A	121991692	2	1	256	1	0	0	0	0	0	0	0	1	15793	1136	40	1		1	TFCP2L1	2	121991692	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		121991692	121207681	3	28924											
FKBP7	51661	broad.mit.edu	37	chr2	179341854	179341854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcttttctccagggcacAtatctgtcatagcaatgtct	7	11	4	0	rs144779588		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:179341854A>G	ENST00000424785.2	-	2	366	c.308T>C	c.(307-309)aTg>aCg	p.M103T	FKBP7_ENST00000434643.2_Missense_Mutation_p.M103T|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	103	PPIase FKBP-type. {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)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCAGGGCACATATCTGTCAT	0.393																																					Melanoma(26;682 927 5286 17599 46613)	ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(307-309)aTg>aCg		FK506 binding protein 7							95	94	95					2																	179341854		2203	4300	6503	SO:0001583	missense	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179341854A>G	AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.308T>C	2.37:g.179341854A>G	ENSP00000413152:p.Met103Thr					FKBP7_ENST00000434643.2_Missense_Mutation_p.M103T|FKBP7_ENST00000464248.1_5'UTR	p.M103T	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		2	366	-			103			PPIase FKBP-type.		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Missense_Mutation	SNP	ENST00000424785.2	37	c.308T>C	CCDS2280.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300445	0.81136	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	D;D	0.90324	-2.65;-2.65	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96191	0.8758	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.943;0.995	D	0.96930	0.9680	10	0.87932	D	0	-9.6044	16.19	0.81981	1.0:0.0:0.0:0.0	.	103;103;103	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	T	103	ENSP00000413152:M103T;ENSP00000415486:M103T	ENSP00000233092:M103T	M	-	2	0	FKBP7	179050100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.225000	0.72522	0.460000	0.39030	ATG		0.393	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1	NM_181342		41	63	0	0	0	1	0	41	63					G	179341854	A	G	179341854	3	3	256	1	0	0	0	0	1	0	0	0	5913	217	8	3	372	3	FKBP7	2	179341854	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	57350162	179341854	63857519	4	28925											
NCKAP1	10787	broad.mit.edu	37	chr2	183829476	183829476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcaattgagtatctTgattgagagggtaactccaa	11	5	1	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:183829476T>C	ENST00000361354.4	-	17	2061	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	NCKAP1_ENST00000360982.2_Silent_p.S569S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	563					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAGTATCTTGATTGAGAGG	0.323																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1705-1707)tcA>tcG		NCK-associated protein 1							111	105	107					2																	183829476		2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183829476T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1689A>G	2.37:g.183829476T>C						NCKAP1_ENST00000361354.3_Silent_p.S563S	p.S569S	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		18	2465	-			563					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1707A>G	CCDS2287.1																																																																																				0.323	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		6	79	0	0	0	1	0	6	79					C	183829476	T	C	183829476	2	2	256	1	0	0	0	0	0	0	0	1	10221	1799	63	3		3	NCKAP1	2	183829476	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	4487622	183829476	59369897	5	28926											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	48	0	0	0	1	0	35	48					T	209113112	C	T	209113112	3	4	256	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	25283636	209113112	34086261	6	28927											
KLHL30	377007	broad.mit.edu	37	chr2	239059501	239059501	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcgcgctggtgccacTgggtgatgcgctgtacgtga	17	9	0	2	rs563581501		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:239059501T>C	ENST00000409223.1	+	8	1639	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P	KLHL30_ENST00000305959.4_Missense_Mutation_p.L493P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	511										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGTGCCACTGGGTGATGCG	0.662													T|||	1	0.000199681	0.0	0.0	5008	,	,		16956	0.0		0.0	False		,,,				2504	0.001					ENST00000409223.1																			0				lung(4)	4						c.(1531-1533)cTg>cCg		kelch-like family member 30							18	25	23					2																	239059501		2186	4270	6456	SO:0001583	missense	377007							g.chr2:239059501T>C		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1532T>C	2.37:g.239059501T>C	ENSP00000386389:p.Leu511Pro					KLHL30_ENST00000305959.4_Missense_Mutation_p.L493P	p.L511P			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	8	1639	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	511					Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.1532T>C	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218262	0.58560	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.70164	-0.46;-0.46	4.79	4.79	0.61399	Kelch-type beta propeller (1);	0.177141	0.38111	N	0.001813	D	0.85750	0.5769	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.89490	0.3756	10	0.72032	D	0.01	.	13.4365	0.61086	0.0:0.0:0.0:1.0	.	511	Q0D2K2	KLH30_HUMAN	P	511;493	ENSP00000386389:L511P;ENSP00000302386:L493P	ENSP00000302386:L493P	L	+	2	0	KLHL30	238724240	1.000000	0.71417	0.982000	0.44146	0.115000	0.19883	7.403000	0.79983	2.015000	0.59207	0.533000	0.62120	CTG		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		5	9	0	0	0	1	0	5	9					C	239059501	T	C	239059501	3	2	256	1	0	0	0	0	1	0	0	0	8384	1580	55	3	1558	3	KLHL30	2	239059501	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	29946389	239059501	4139872	7	28928											
SLC34A2	10568	broad.mit.edu	37	chr4	25677849	25677849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatccgcatggccaagggGctgggcaacatctctgccaa	11	15	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr4:25677849G>A	ENST00000382051.3	+	13	1601	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	SLC34A2_ENST00000504570.1_Silent_p.G516G|SLC34A2_ENST00000503434.1_Silent_p.G516G	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	517					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)				TGGCCAAGGGGCTGGGCAACA	0.577			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1549-1551)ggG>ggA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							164	142	150					4																	25677849		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677849G>A	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.1551G>A	4.37:g.25677849G>A						SLC34A2_ENST00000503434.1_Silent_p.G516G|SLC34A2_ENST00000504570.1_Silent_p.G516G	p.G517G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1601	+		Breast(46;0.0503)	517					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1551G>A	CCDS3435.1																																																																																				0.577	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		68	94	0	0	0	1	0	68	94					A	25677849	G	A	25677849	2	1	256	1	0	0	0	0	0	0	0	1	14568	1190	42	2		2	SLC34A2	4	25677849	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		25677849	165476427	8	28929											
MCCC2	64087	broad.mit.edu	37	chr5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtgccaagatggtggccGctgtggcctgtgcccaagtg	16	10	0	1	rs371374378		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(1282-1284)Gct>Act		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)	G	THR/ALA	0,4406		0,0,2203	102	100	101		1282	5.5	0.6	5		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCCC2	NM_022132.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	428/564	70944989	1,13005	2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70944989G>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1282G>A	5.37:g.70944989G>A	ENSP00000343657:p.Ala428Thr					MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	p.A428T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	14	1411	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	428			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.1282G>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456013	0.84209	0.0	1.16E-4	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.98345	-4.88;-4.88;-4.88	5.54	5.54	0.83059	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.100610	0.64402	D	0.000002	D	0.99384	0.9783	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98537	1.0630	10	0.87932	D	0	-12.8005	18.2637	0.90044	0.0:0.0:1.0:0.0	.	428	Q9HCC0	MCCB_HUMAN	T	428;390;200	ENSP00000343657:A428T;ENSP00000327308:A390T;ENSP00000425474:A200T	ENSP00000327308:A390T	A	+	1	0	MCCC2	70980745	1.000000	0.71417	0.582000	0.28627	0.368000	0.29767	7.993000	0.88291	2.614000	0.88457	0.650000	0.86243	GCT		0.512	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			3	60	0	0	0	1	0	3	60					A	70944989	G	A	70944989	3	1	256	1	0	0	0	0	1	0	0	0	9375	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		70944989	109970271	9	28930											
SSBP2	23635	broad.mit.edu	37	chr5	80785076	80785076	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acataaatcttacctgattaGgtatcctcaatgggggcctt	8	9	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:80785076G>T	ENST00000320672.4	-	6	635	c.425C>A	c.(424-426)cCt>cAt	p.P142H	SSBP2_ENST00000509053.1_Missense_Mutation_p.P112H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P112H|SSBP2_ENST00000505980.1_Intron|SSBP2_ENST00000515395.1_Missense_Mutation_p.P112H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	142	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TACCTGATTAGGTATCCTCAA	0.328																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(424-426)cCt>cAt		single-stranded DNA binding protein 2							36	39	38					5																	80785076		2203	4299	6502	SO:0001583	missense	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80785076G>T	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.425C>A	5.37:g.80785076G>T	ENSP00000322977:p.Pro142His					SSBP2_ENST00000515395.1_Missense_Mutation_p.P112H|SSBP2_ENST00000514493.1_Missense_Mutation_p.P112H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P112H|SSBP2_ENST00000505980.1_Intron	p.P142H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	6	635	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	142			Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	c.425C>A	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144490	0.57044	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000515395;ENST00000509013	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.74647	2.275	0.58432	D	0.999999	B;B;B;D;D	0.76494	0.109;0.024;0.176;0.999;0.999	B;B;B;D;D	0.80764	0.151;0.081;0.202;0.994;0.994	T	0.75085	-0.3442	9	0.31617	T	0.26	-4.7645	17.0462	0.86504	0.0:0.0:1.0:0.0	.	112;112;95;112;142	E9PDA8;E9PB74;A6ND70;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	H	142;112;112;95;48;48;112;138	.	ENSP00000322977:P142H	P	-	2	0	SSBP2	80820832	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.431000	0.73395	2.794000	0.96219	0.650000	0.86243	CCT		0.328	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		6	28	1	0	5.9392e-07	1	6.61411e-07	6	28					T	80785076	G	T	80785076	3	4	256	1	0	0	0	0	1	0	0	0	15179	1000	35	4	708	4	SSBP2	5	80785076	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	9840087	80785076	100130184	10	28931											
PJA2	9867	broad.mit.edu	37	chr5	108717302	108717302	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtcatacatggtttaAaactgacataagcatgtctt	8	7	3	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:108717302A>C	ENST00000361189.2	-	3	373	c.134T>G	c.(133-135)tTt>tGt	p.F45C	PJA2_ENST00000361557.3_Missense_Mutation_p.F45C|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	45					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)		ACATGGTTTAAAACTGACATA	0.443																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(133-135)tTt>tGt		praja ring finger 2, E3 ubiquitin protein ligase							113	104	107					5																	108717302		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108717302A>C	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.134T>G	5.37:g.108717302A>C	ENSP00000354775:p.Phe45Cys					PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_Missense_Mutation_p.F45C	p.F45C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	3	373	-		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)	45					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.134T>G	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133006	0.77662	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.37235	1.21;1.21	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.68593	2.085	0.50632	D	0.999883	D	0.89917	1.0	D	0.91635	0.999	T	0.63157	-0.6700	10	0.87932	D	0	-19.1314	15.9856	0.80151	1.0:0.0:0.0:0.0	.	45	O43164	PJA2_HUMAN	C	45	ENSP00000354775:F45C;ENSP00000355284:F45C	ENSP00000354775:F45C	F	-	2	0	PJA2	108745201	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.161000	0.77505	2.180000	0.69256	0.455000	0.32223	TTT		0.443	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		9	76	0	0	0	1	0	9	76					C	108717302	A	C	108717302	3	2	256	1	0	0	0	0	1	0	0	0	11962	14	1	5	2024	5	PJA2	5	108717302	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	27932226	108717302	72197958	11	28932											
FTMT	94033	broad.mit.edu	37	chr5	121188111	121188111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagaagccggaacaggaCgactgggaaagcgggctgca	15	9	1	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582																																						ENST00000321339.1																			1	Substitution - coding silent(1)	p.D151D(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(451-453)gaC>gaT		ferritin mitochondrial							89	88	88					5																	121188111		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188111C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.453C>T	5.37:g.121188111C>T							p.D151D	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	462	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	151			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.453C>T	CCDS4128.1																																																																																				0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		11	114	0	0	0	1	0	11	114					T	121188111	C	T	121188111	2	4	256	1	0	0	0	0	0	0	0	1	6085	535	19	1		1	FTMT	5	121188111	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08	12470809	121188111	59727149	12	28933											
PCDHB3	56132	broad.mit.edu	37	chr5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	17	11	1	0	rs144773246	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	638	Cadherin 6. {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)	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													C|||	5	0.000998403	0.0	0.0014	5008	,	,		16392	0.002		0.0	False		,,,				2504	0.002					ENST00000231130.2																			1	Substitution - Missense(1)	p.H638Q(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1912-1914)caC>caG				C	GLN/HIS	8,3686		0,8,1839	21	23	22		1914	-2.8	0.8	5	dbSNP_134	22	0,7422		0,0,3711	no	missense	PCDHB3	NM_018937.2	24	0,8,5550	GG,GC,CC		0.0,0.2166,0.072	benign	638/797	140482147	8,11108	1847	3711	5558	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482147C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1914C>G	5.37:g.140482147C>G	ENSP00000231130:p.His638Gln						p.H638Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1914	+			638			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1914C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798298	0.02841	0.002166	0.0	ENSG00000113205	ENST00000231130	T	0.52526	0.66	4.38	-2.84	0.05751	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20618	0.0496	N	0.10760	0.04	0.23555	N	0.997428	B	0.26672	0.156	B	0.30943	0.122	T	0.32903	-0.9889	9	0.02654	T	1	.	7.9075	0.29771	0.1045:0.1872:0.6227:0.0856	.	638	Q9Y5E6	PCDB3_HUMAN	Q	638	ENSP00000231130:H638Q	ENSP00000231130:H638Q	H	+	3	2	PCDHB3	140462331	0.000000	0.05858	0.777000	0.31699	0.880000	0.50808	-0.407000	0.07178	-0.244000	0.09639	0.556000	0.70494	CAC		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		4	109	0	0	0	1	0	4	109					G	140482147	C	G	140482147	3	3	256	1	0	0	0	0	1	0	0	0	11543	477	17	4	1916	4	PCDHB3	5	140482147	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	19294036	140482147	40433113	13	28934											
CCDC69	26112	broad.mit.edu	37	chr5	150565607	150565607	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgtttcttatagtttcGgctcagaatggactcctcca	8	9	2	1	rs371784207		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:150565607G>A	ENST00000355417.2	-	6	646	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	158										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATAGTTTCGGCTCAGAATG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14597	0.0		0.0	False		,,,				2504	0.0					ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(472-474)Cga>Tga		coiled-coil domain containing 69		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	152	157	155		472	4.7	0.9	5		155	0,8600		0,0,4300	no	stop-gained	CCDC69	NM_015621.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		158/297	150565607	1,13005	2203	4300	6503	SO:0001587	stop_gained	26112							g.chr5:150565607G>A		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.472C>T	5.37:g.150565607G>A	ENSP00000347586:p.Arg158*					CCDC69_ENST00000521308.1_5'UTR	p.R158*	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	646	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	158					A8K9X6	Nonsense_Mutation	SNP	ENST00000355417.2	37	c.472C>T	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093733	0.76870	2.27E-4	0.0	ENSG00000198624	ENST00000355417	.	.	.	5.61	4.69	0.59074	.	0.338342	0.24776	N	0.035694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3591	13.0669	0.59038	0.0:0.0:0.7781:0.2219	.	.	.	.	X	158	.	ENSP00000347586:R158X	R	-	1	2	CCDC69	150545800	0.998000	0.40836	0.933000	0.37362	0.045000	0.14185	2.234000	0.43035	2.793000	0.96121	0.655000	0.94253	CGA		0.557	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		10	102	0	0	0	1	0	10	102					A	150565607	G	A	150565607	4	1	256	1	0	0	0	0	0	1	0	0	2841	1124	39	1	434	1	CCDC69	5	150565607	Nonsense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	10083460	150565607	30349653	14	28935											
GRIK2	2898	broad.mit.edu	37	chr6	102372528	102372528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcaaccctgactcagacGtggtggaaaacaattttacc	8	11	1	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:102372528G>A	ENST00000421544.1	+	12	2291	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000318991.6_Missense_Mutation_p.V601M|GRIK2_ENST00000413795.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369138.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369134.4_Missense_Mutation_p.V552M	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	601					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGACTCAGACGTGGTGGAAAA	0.418																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1801-1803)Gtg>Atg		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						137	127	131					6																	102372528		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102372528G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1801G>A	6.37:g.102372528G>A	ENSP00000397026:p.Val601Met					GRIK2_ENST00000413795.1_Missense_Mutation_p.V601M|GRIK2_ENST00000318991.6_Missense_Mutation_p.V601M|GRIK2_ENST00000369134.4_Missense_Mutation_p.V552M|GRIK2_ENST00000421544.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369137.3_Intron	p.V601M	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	12	2291	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	601					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1801G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581974	0.65992	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000369134	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.86	5.86	0.93980	Ionotropic glutamate receptor (2);	0.067039	0.64402	D	0.000012	T	0.44829	0.1312	L	0.53561	1.675	0.58432	D	0.999997	P;P;P	0.42518	0.741;0.782;0.741	B;B;B	0.40375	0.294;0.327;0.294	T	0.51172	-0.8739	10	0.62326	D	0.03	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	601;601;601	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	M	601;601;601;601;552	ENSP00000397026:V601M;ENSP00000405596:V601M;ENSP00000358134:V601M;ENSP00000313276:V601M;ENSP00000358130:V552M	ENSP00000313276:V601M	V	+	1	0	GRIK2	102479221	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.777000	0.95525	0.655000	0.94253	GTG		0.418	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			9	102	0	0	0	1	0	9	102					A	102372528	G	A	102372528	3	1	256	1	0	0	0	0	1	0	0	0	6774	1145	40	1	1847	1	GRIK2	6	102372528	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		102372528	68742539	15	28936											
HECA	51696	broad.mit.edu	37	chr6	139487914	139487914	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcccaggagaaggcagtGggtgccgcagcctacggtgc	15	12	0	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:139487914G>T	ENST00000367658.2	+	2	1050	c.765G>T	c.(763-765)gtG>gtT	p.V255V	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	255					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAAGGCAGTGGGTGCCGCAG	0.677																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(763-765)gtG>gtT		headcase homolog (Drosophila)							16	19	18					6																	139487914		2199	4300	6499	SO:0001819	synonymous_variant	51696				respiratory tube development			g.chr6:139487914G>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.765G>T	6.37:g.139487914G>T						RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	p.V255V	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1050	+			255						Silent	SNP	ENST00000367658.2	37	c.765G>T	CCDS5194.1																																																																																				0.677	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		3	23	1	0	1	1	1	3	23					T	139487914	G	T	139487914	2	4	256	1	0	0	0	0	0	0	0	1	7038	1335	47	4		4	HECA	6	139487914	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	37115386	139487914	31627153	16	28937											
DOCK4	9732	broad.mit.edu	37	chr7	111624387	111624387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagagctcagtaatgctgaTgtcttccggatccaccattg	10	10	2	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr7:111624387T>C	ENST00000437633.1	-	7	779	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	DOCK4_ENST00000428084.1_Missense_Mutation_p.I175V|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	175					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)				GTAATGCTGATGTCTTCCGGA	0.463																																						ENST00000428084.1																			0				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						c.(523-525)Atc>Gtc		dedicator of cytokinesis 4							81	82	81					7																	111624387		1893	4122	6015	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111624387T>C		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.523A>G	7.37:g.111624387T>C	ENSP00000404179:p.Ile175Val					DOCK4_ENST00000437633.1_Missense_Mutation_p.I175V|DOCK4_ENST00000476846.1_5'UTR	p.I175V			Q8N1I0	DOCK4_HUMAN			7	795	-		Acute lymphoblastic leukemia(1;0.0441)	175					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.523A>G	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204595	0.38905	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03035	4.07;4.07	4.87	3.72	0.42706	.	0.111526	0.64402	D	0.000012	T	0.05227	0.0139	L	0.53671	1.685	0.80722	D	1	B;B;B;B	0.18013	0.012;0.025;0.025;0.012	B;B;B;B	0.20767	0.014;0.019;0.031;0.014	T	0.24083	-1.0170	10	0.51188	T	0.08	.	9.8363	0.40971	0.0:0.0814:0.0:0.9186	.	175;175;175;175	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	V	163;175;175;163;174	ENSP00000410746:I175V;ENSP00000404179:I175V	ENSP00000345432:I163V	I	-	1	0	DOCK4	111411623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.138000	0.58017	0.821000	0.34540	0.533000	0.62120	ATC		0.463	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	15	0	0	0	1	0	7	15					C	111624387	T	C	111624387	3	2	256	1	0	0	0	0	1	0	0	0	4689	1464	51	3	5561	3	DOCK4	7	111624387	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		111624387	47514276	17	28938											
DLGAP2	9228	broad.mit.edu	37	chr8	1626416	1626416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctaacagcgtcacggcCgccgtccaagctgacctgga	11	15	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:1626416C>T	ENST00000421627.2	+	9	2219	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	774					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCGTCACGGCCGCCGTCCAAG	0.572																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2083-2085)gcC>gcT		discs, large (Drosophila) homolog-associated protein 2							54	60	58					8																	1626416		2095	4193	6288	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626416C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2085C>T	8.37:g.1626416C>T							p.A695A	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2219	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	774					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.2085C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893134	0.17613	.	.	ENSG00000198010	ENST00000520901	.	.	.	4.85	-9.28	0.00656	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38779	-0.9645	4	.	.	.	-7.6499	1.8321	0.03132	0.3601:0.2455:0.0726:0.3218	.	.	.	.	L	698	.	.	P	+	2	0	DLGAP2	1613823	0.002000	0.14202	0.001000	0.08648	0.918000	0.54935	-1.969000	0.01506	-2.075000	0.00876	-1.151000	0.01829	CCG		0.572	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		3	73	0	0	0	1	0	3	73					T	1626416	C	T	1626416	2	4	256	1	0	0	0	0	0	0	0	1	4560	639	23	1		1	DLGAP2	8	1626416	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		1626416	144737606	18	28939											
CSMD3	114788	broad.mit.edu	37	chr8	113504737	113504737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacaacttggcaaggcTctattccatccaggtcttcc	7	14	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:113504737T>C	ENST00000297405.5	-	31	5503	c.5259A>G	c.(5257-5259)agA>agG	p.R1753R	CSMD3_ENST00000352409.3_Silent_p.R1753R|CSMD3_ENST00000343508.3_Silent_p.R1713R|CSMD3_ENST00000455883.2_Silent_p.R1649R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1753	Sushi 9. {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						TTGGCAAGGCTCTATTCCATC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(5257-5259)agA>agG		CUB and Sushi multiple domains 3							126	114	118					8																	113504737		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113504737T>C	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.5259A>G	8.37:g.113504737T>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.R1753R|CSMD3_ENST00000455883.2_Silent_p.R1649R|CSMD3_ENST00000343508.3_Silent_p.R1713R	p.R1753R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			31	5503	-			1753			Sushi 9.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5259A>G	CCDS6315.1																																																																																				0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	105	0	0	0	1	0	9	105					C	113504737	T	C	113504737	2	2	256	1	0	0	0	0	0	0	0	1	3946	1548	54	3		3	CSMD3	8	113504737	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	111878321	113504737	32859285	19	28940											
GRINA	2907	broad.mit.edu	37	chr8	145066754	145066754	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcgtgtacgcctcacTgggcgctctgctcttcacct	11	14	4	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:145066754T>A	ENST00000313269.5	+	6	1222	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	GRINA_ENST00000395068.4_Missense_Mutation_p.L315Q	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	315						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACGCCTCACTGGGCGCTCTG	0.617																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(943-945)cTg>cAg		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							103	81	88					8																	145066754		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066754T>A	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 3"	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.944T>A	8.37:g.145066754T>A	ENSP00000314380:p.Leu315Gln					GRINA_ENST00000395068.4_Missense_Mutation_p.L315Q	p.L315Q	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1222	+	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)		315					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.944T>A	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.61|19.61	3.859347|3.859347	0.71834|0.71834	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000534791	T;T|.	0.49720|.	0.77;0.77|.	5.17|5.17	3.98|3.98	0.46160|0.46160	.|.	0.304703|.	0.27664|.	N|.	0.018362|.	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.95187|0.95187	3.635|3.635	0.48087|0.48087	D|D	0.999582|0.999582	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.83404|0.83404	0.0024|0.0024	10|5	0.87932|.	D|.	0|.	-15.7076|-15.7076	9.0108|9.0108	0.36139|0.36139	0.0:0.0:0.1866:0.8134|0.0:0.0:0.1866:0.8134	.|.	315|.	Q7Z429|.	GRINA_HUMAN|.	Q|R	315;315;296|294	ENSP00000314380:L315Q;ENSP00000378507:L315Q|.	ENSP00000314380:L315Q|.	L|W	+|+	2|1	0|0	GRINA|GRINA	145138742|145138742	1.000000|1.000000	0.71417|0.71417	0.110000|0.110000	0.21437|0.21437	0.914000|0.914000	0.54420|0.54420	5.887000|5.887000	0.69751|0.69751	0.770000|0.770000	0.33336|0.33336	0.477000|0.477000	0.44152|0.44152	CTG|TGG		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		20	37	0	0	0	1	0	20	37					A	145066754	T	A	145066754	3	1	256	1	0	0	0	0	1	0	0	0	6785	1580	55	5	962	5	GRINA	8	145066754	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	31562017	145066754	1297268	20	28941											
TLN1	7094	broad.mit.edu	37	chr9	35715132	35715132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcgcagcccctcagctGcctcccgcagccgctgctgc	10	21	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr9:35715132G>T	ENST00000314888.9	-	21	3031	c.2678C>A	c.(2677-2679)gCa>gAa	p.A893E	TLN1_ENST00000540444.1_Missense_Mutation_p.A893E	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	893					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)			CCCCTCAGCTGCCTCCCGCAG	0.622																																						ENST00000314888.9																			0				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						c.(2677-2679)gCa>gAa		talin 1							34	39	38					9																	35715132		2203	4298	6501	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715132G>T	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.2678C>A	9.37:g.35715132G>T	ENSP00000316029:p.Ala893Glu					TLN1_ENST00000540444.1_Missense_Mutation_p.A893E	p.A893E	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	3031	-	all_epithelial(49;0.167)		893					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2678C>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590694	0.96590	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	D;T	0.82433	-1.61;-1.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92967	0.6394	10	0.87932	D	0	-11.4098	19.7629	0.96329	0.0:0.0:1.0:0.0	.	893	Q9Y490	TLN1_HUMAN	E	893	ENSP00000316029:A893E;ENSP00000442981:A893E	ENSP00000316029:A893E	A	-	2	0	TLN1	35705132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.824000	0.99380	2.666000	0.90696	0.561000	0.74099	GCA		0.622	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		5	55	1	0	1	1	1	5	55					T	35715132	G	T	35715132	3	4	256	1	0	0	0	0	1	0	0	0	15944	1319	46	4	5095	4	TLN1	9	35715132	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		35715132	105498299	21	28942											
WEE1	7465	broad.mit.edu	37	chr11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-													actgtgaggaggaggaagaaGaggaggaggaggagggcagc							TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:9595595_9595597delGAG	ENST00000450114.2	+	1	368_370	c.115_117delGAG	c.(115-117)gagdel	p.E43del	WEE1_ENST00000299613.6_5'Flank	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	43	Poly-Glu.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|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)|protein tyrosine kinase activity (GO:0004713)	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739																																						ENST00000450114.2																			1	Deletion - In frame(1)	p.E39delE(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(115-117)del		WEE1 G2 checkpoint kinase																																				SO:0001651	inframe_deletion	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9595595_9595597delGAG	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.115_117delGAG	11.37:g.9595604_9595606delGAG	ENSP00000402084:p.Glu43del						p.E43del	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	1	368_370	+			43			Poly-Glu.		B3KVE1|D3DQV0	In_Frame_Del	DEL	ENST00000450114.2	37	c.115_117delGAG	CCDS7800.1																																																																																				0.739	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		2	4						2	4	---	---	---	---	-	9595597	GAG	-	9595595	7	5	256	1	0	1	0	1	0	0	0	0	17341	943	33	0	117	0	WEE1	11	9595595	In_Frame_Del	DEL	GAG	TCGA-HT-7609-01A-11D-2086-08		9595595	125410921	22	28943											
PCBP2	5094	broad.mit.edu	37	chr12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattggctgcataatcgggcGtcaaggcgccaaaatcaatg	12	9	2	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:53865444G>A	ENST00000439930.3	+	13	936	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H|PCBP2_ENST00000603815.1_Missense_Mutation_p.R305H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498																																						ENST00000603815.1																			1	Substitution - Missense(1)	p.R306H(1)	central_nervous_system(1)	central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(913-915)cGt>cAt		poly(rC) binding protein 2							54	44	47					12																	53865444		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53865444G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.914G>A	12.37:g.53865444G>A	ENSP00000408949:p.Arg305His					PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000439930.3_Missense_Mutation_p.R305H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H	p.R305H	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			14	1264	+			305			KH 3.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.914G>A	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536741	0.65085	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.12	4.24	0.50183	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.68593	2.085	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.32010	0.001;0.055;0.009;0.027;0.009;0.351;0.055;0.02;0.02;0.033	B;B;B;B;B;B;B;B;B;B	0.29176	0.004;0.063;0.047;0.019;0.064;0.099;0.038;0.034;0.064;0.047	T	0.37798	-0.9690	10	0.87932	D	0	.	12.6068	0.56527	0.0816:0.0:0.9184:0.0	.	262;263;305;248;275;258;301;271;306;302	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	H	271;275;258;305;261;306;248;302;301;263;262;258;275;222;135	ENSP00000352228:R271H;ENSP00000394116:R275H;ENSP00000390304:R258H;ENSP00000408949:R305H;ENSP00000447670:R261H;ENSP00000352438:R306H;ENSP00000448762:R302H;ENSP00000448927:R301H;ENSP00000449070:R262H;ENSP00000388008:R258H;ENSP00000449062:R275H	ENSP00000352228:R271H	R	+	2	0	PCBP2	52151711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.564000	0.98151	1.396000	0.46663	0.650000	0.86243	CGT		0.498	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		5	37	0	0	0	1	0	5	37					A	53865444	G	A	53865444	3	1	256	1	0	0	0	0	1	0	0	0	11501	1145	40	1	967	1	PCBP2	12	53865444	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		53865444	79986451	23	28944											
LRP1	4035	broad.mit.edu	37	chr12	57601869	57601869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatcgactgggtggccGgaaacgtgtactggaccgac	14	12	0	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:57601869G>A	ENST00000243077.3	+	77	12374	c.11908G>A	c.(11908-11910)Gga>Aga	p.G3970R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3970					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTGGCCGGAAACGTGTA	0.577																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(11908-11910)Gga>Aga		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						82	74	77					12																	57601869		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57601869G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11908G>A	12.37:g.57601869G>A	ENSP00000243077:p.Gly3970Arg						p.G3970R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	77	12374	+			3970					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11908G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630883	0.67015	.	.	ENSG00000123384	ENST00000243077	D	0.84223	-1.82	4.74	4.74	0.60224	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.85410	0.5690	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79806	-0.1648	10	0.08599	T	0.76	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	3970	Q07954	LRP1_HUMAN	R	3970	ENSP00000243077:G3970R	ENSP00000243077:G3970R	G	+	1	0	LRP1	55888136	1.000000	0.71417	0.988000	0.46212	0.912000	0.54170	4.566000	0.60843	2.630000	0.89119	0.655000	0.94253	GGA		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		22	32	0	0	0	1	0	22	32					A	57601869	G	A	57601869	3	1	256	1	0	0	0	0	1	0	0	0	8951	1117	39	1	12214	1	LRP1	12	57601869	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	3736425	57601869	76250026	24	28945											
C12orf63	144535	broad.mit.edu	37	chr12	97136314	97136314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggttgaggtgccgcttagCattggtgactgcatttgttg	15	6	0	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:97136314C>A	ENST00000524981.4	+	52	7192	c.7169C>A	c.(7168-7170)gCa>gAa	p.A2390E				Q96N23	CL055_HUMAN		0																	TGCCGCTTAGCATTGGTGACT	0.348																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2521-2523)gCa>gAa									88	81	83					12																	97136314		2203	4300	6503	SO:0001583	missense	0							g.chr12:97136314C>A																												ENST00000524981.4:c.7169C>A	12.37:g.97136314C>A	ENSP00000431759:p.Ala2390Glu						p.A841E			Q6ZTY8	CL063_HUMAN			19	2522	+			815						Missense_Mutation	SNP	ENST00000524981.4	37	c.2522C>A		.	.	.	.	.	.	.	.	.	.	C	16.04	3.008631	0.54361	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.79	3.96	0.45880	.	0.272597	0.32068	N	0.006629	T	0.50343	0.1610	M	0.61703	1.905	0.09310	N	1	D	0.55385	0.971	P	0.55455	0.776	T	0.43196	-0.9406	9	0.59425	D	0.04	-7.3279	7.4548	0.27258	0.0:0.733:0.0:0.267	.	815	Q6ZTY8	CL063_HUMAN	E	2390;815	.	ENSP00000345466:A815E	A	+	2	0	C12orf63	95660445	0.083000	0.21467	0.387000	0.26183	0.758000	0.43043	0.697000	0.25556	0.789000	0.33779	0.491000	0.48974	GCA		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			14	20	1	0	6.31663e-08	1	7.19802e-08	14	20					A	97136314	C	A	97136314	3	1	256	1	0	0	0	0	1	0	0	0	1706	710	25	4	2514	4	C12orf63	12	97136314	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	39534445	97136314	36715581	25	28946											
ATP12A	479	broad.mit.edu	37	chr13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcaatgatcgatccccctCggtccaccgtgccagatgca	9	15	1	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr13:25275010C>T	ENST00000381946.3	+	13	1998	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.R617W			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	611					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGATCCCCCTCGGTCCACCGT	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1849-1851)Cgg>Tgg		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						144	128	134					13																	25275010		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25275010C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1831C>T	13.37:g.25275010C>T	ENSP00000371372:p.Arg611Trp					ATP12A_ENST00000381946.3_Missense_Mutation_p.R611W	p.R617W	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	13	2182	+		Lung SC(185;0.0225)|Breast(139;0.077)	611					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1849C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898923	0.52227	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96491	-4.03;-4.03	6.17	4.38	0.52667	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000003	D	0.98585	0.9527	H	0.99404	4.55	0.80722	D	1	D;D	0.62365	0.991;0.979	P;P	0.53649	0.731;0.584	D	0.99091	1.0840	10	0.87932	D	0	.	13.8251	0.63346	0.2773:0.7227:0.0:0.0	.	617;611	P54707-2;P54707	.;AT12A_HUMAN	W	617;611	ENSP00000218548:R617W;ENSP00000371372:R611W	ENSP00000218548:R617W	R	+	1	2	ATP12A	24173010	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	4.754000	0.62191	1.602000	0.50124	0.655000	0.94253	CGG		0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		5	93	0	0	0	1	0	5	93					T	25275010	C	T	25275010	3	4	256	1	0	0	0	0	1	0	0	0	1122	875	31	1	1899	1	ATP12A	13	25275010	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		25275010	89894868	26	28947											
ATG2B	55102	broad.mit.edu	37	chr14	96798962	96798962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagactatgagacatgtccAtatcagccatggagaagaat	10	7	1	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr14:96798962A>G	ENST00000359933.4	-	9	2131	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	413					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)		AGACATGTCCATATCAGCCAT	0.378																																						ENST00000359933.4																			0				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						c.(1237-1239)aTg>aCg		autophagy related 2B							91	89	90					14																	96798962		1836	4079	5915	SO:0001583	missense	55102							g.chr14:96798962A>G	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.1238T>C	14.37:g.96798962A>G	ENSP00000353010:p.Met413Thr						p.M413T	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	9	2131	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	413					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.1238T>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410539	0.62399	.	.	ENSG00000066739	ENST00000359933	T	0.09538	2.97	6.06	6.06	0.98353	.	0.105878	0.64402	U	0.000010	T	0.22898	0.0553	L	0.32530	0.975	0.58432	D	0.999997	D	0.60160	0.987	D	0.66196	0.942	T	0.00512	-1.1696	10	0.48119	T	0.1	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	413	Q96BY7	ATG2B_HUMAN	T	413	ENSP00000353010:M413T	ENSP00000353010:M413T	M	-	2	0	ATG2B	95868715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.669000	0.91163	2.324000	0.78689	0.533000	0.62120	ATG		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		7	63	0	0	0	1	0	7	63					G	96798962	A	G	96798962	3	3	256	1	0	0	0	0	1	0	0	0	1094	217	8	3	5134	3	ATG2B	14	96798962	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08		96798962	10550578	27	28948											
TTC23	64927	broad.mit.edu	37	chr15	99678265	99678265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcagggtgtcctgagGgatgctggtgcagaaggcca	16	11	0	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr15:99678265G>A	ENST00000394132.2	-	14	2111	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	TTC23_ENST00000394135.3_Missense_Mutation_p.P432S|TTC23_ENST00000558613.1_Missense_Mutation_p.P432S|TTC23_ENST00000558663.1_Missense_Mutation_p.P432S|TTC23_ENST00000394136.1_Missense_Mutation_p.P432S|TTC23_ENST00000262074.4_Missense_Mutation_p.P432S|RP11-6O2.3_ENST00000564527.1_RNA			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	432										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTGTCCTGAGGGATGCTGGTG	0.607																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(1294-1296)Cct>Tct		tetratricopeptide repeat domain 23							47	53	51					15																	99678265		1976	4144	6120	SO:0001583	missense	64927						binding	g.chr15:99678265G>A		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1294C>T	15.37:g.99678265G>A	ENSP00000377690:p.Pro432Ser					TTC23_ENST00000558613.1_Missense_Mutation_p.P432S|TTC23_ENST00000262074.4_Missense_Mutation_p.P432S|TTC23_ENST00000558663.1_Missense_Mutation_p.P432S|TTC23_ENST00000394136.1_Missense_Mutation_p.P432S|TTC23_ENST00000394135.3_Missense_Mutation_p.P432S	p.P432S			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		14	2111	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		432					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.1294C>T	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418272	0.25552	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	4.67	1.62	0.23740	.	0.816706	0.10408	U	0.678305	T	0.07728	0.0194	L	0.29908	0.895	0.09310	N	0.999999	B	0.12013	0.005	B	0.12156	0.007	T	0.45160	-0.9280	10	0.08837	T	0.75	-2.1909	3.2382	0.06772	0.0978:0.1742:0.548:0.18	.	432	Q5W5X9	TTC23_HUMAN	S	432	ENSP00000377690:P432S;ENSP00000377693:P432S;ENSP00000262074:P432S;ENSP00000377692:P432S	ENSP00000262074:P432S	P	-	1	0	TTC23	97495788	0.000000	0.05858	0.001000	0.08648	0.288000	0.27193	-0.333000	0.07894	0.111000	0.17947	0.563000	0.77884	CCT		0.607	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		5	46	0	0	0	1	0	5	46					A	99678265	G	A	99678265	3	1	256	1	0	0	0	0	1	0	0	0	16687	1232	43	2	53	2	TTC23	15	99678265	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		99678265	2853127	28	28949											
AMFR	267	broad.mit.edu	37	chr16	56423219	56423219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacacgattattgtcgGcaatattaagagacattctg	8	9	1	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr16:56423219G>A	ENST00000290649.5	-	9	1364	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	385					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATTATTGTCGGCAATATTAAG	0.463																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1153-1155)gCc>gTc		autocrine motility factor receptor, E3 ubiquitin protein ligase							146	132	137					16																	56423219		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423219G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1154C>T	16.37:g.56423219G>A	ENSP00000290649:p.Ala385Val						p.A385V	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			9	1364	-			385					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1154C>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858403	0.51376	.	.	ENSG00000159461	ENST00000290649	T	0.67171	-0.25	5.92	5.92	0.95590	.	0.234979	0.51477	D	0.000091	T	0.55784	0.1942	N	0.22421	0.69	0.41738	D	0.989596	B	0.23128	0.08	B	0.23275	0.045	T	0.49707	-0.8911	10	0.18710	T	0.47	-15.3896	20.33	0.98713	0.0:0.0:1.0:0.0	.	385	Q9UKV5	AMFR2_HUMAN	V	385	ENSP00000290649:A385V	ENSP00000290649:A385V	A	-	2	0	AMFR	54980720	1.000000	0.71417	0.958000	0.39756	0.822000	0.46500	4.548000	0.60718	2.810000	0.96702	0.585000	0.79938	GCC		0.463	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			4	110	0	0	0	1	0	4	110					A	56423219	G	A	56423219	3	1	256	1	0	0	0	0	1	0	0	0	571	1203	42	2	801	2	AMFR	16	56423219	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		56423219	33931534	29	28950											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	11	0	0	0	1	0	12	11					T	7577120	C	T	7577120	3	4	256	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		7577120	73618090	30	28951											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	14	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7578176C>T	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_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						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(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	GRCh37	CS071266	TP53	S		c.e6+1	Other conserved DNA damage response genes	tumor protein p53							80	75	77					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578176C>T	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.672+1G>A	17.37:g.7578176C>T		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)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024476	0.75390	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	14	22	0	0	0	1	0	14	22					T	7578176	C	T	7578176	5	4	256	1	0	0	0	0	0	0	1	0	16378	521	18	2	621	2	TP53	17	7578176	Splice_Site	SNP	C	TCGA-HT-7609-01A-11D-2086-08	1056	7578176	73617034	31	28952											
WDR16	124739	broad.mit.edu	37	chr17	9546433	9546433	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaacatcacacgcatccGcataagtccaggaaatcaat	7	12	2	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:9546433G>A	ENST00000285199.7	+	0	0				WDR16_ENST00000396219.3_Missense_Mutation_p.R526H|WDR16_ENST00000299764.5_Missense_Mutation_p.R604H|USP43_ENST00000570475.1_5'Flank|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000352665.5_Missense_Mutation_p.R594H	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						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						ACACGCATCCGCATAAGTCCA	0.453																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1780-1782)cGc>cAc		WD repeat domain 16							160	141	147					17																	9546433		2203	4300	6503	SO:0001631	upstream_gene_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9546433G>A	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			17.37:g.9546433G>A	Exception_encountered					RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.R526H|WDR16_ENST00000299764.5_Missense_Mutation_p.R604H	p.R594H	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			14	1850	+			594					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1781G>A	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696011	0.68386	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.61274	0.12;0.12;0.12	5.88	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.206144	0.49916	D	0.000127	T	0.62563	0.2438	M	0.64404	1.975	0.38847	D	0.956185	D;D;D	0.65815	0.995;0.995;0.984	P;P;P	0.57548	0.802;0.802;0.823	T	0.65948	-0.6044	10	0.48119	T	0.1	-24.5065	4.7058	0.12849	0.2754:0.0:0.7246:0.0	.	604;526;594	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	H	594;526;604	ENSP00000339449:R594H;ENSP00000379521:R526H;ENSP00000299764:R604H	ENSP00000299764:R604H	R	+	2	0	WDR16	9487158	1.000000	0.71417	0.996000	0.52242	0.391000	0.30476	2.389000	0.44407	2.780000	0.95670	0.655000	0.94253	CGC		0.453	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		3	69	0	0	0	1	0	3	69					A	9546433	G	A	9546433	1	1	256	0	1	0	0	0	0	0	0	0	17273	1087	38	1		1	WDR16	17	9546433	5'Flank	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1968257	9546433	71648777	32	28953											
KRT26	353288	broad.mit.edu	37	chr17	38926339	38926339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcatctccacgttcacGttccccccagctgtatattg	6	15	3	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:38926339G>A	ENST00000335552.4	-	4	765	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACGTTCACGTTCCCCCCAG	0.488																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(715-717)aaC>aaT		keratin 26							153	142	145					17																	38926339		2203	4300	6503	SO:0001819	synonymous_variant	353288					intermediate filament	structural molecule activity	g.chr17:38926339G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.717C>T	17.37:g.38926339G>A							p.N239N	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			4	765	-		Breast(137;0.00526)	239			Linker 12.|Rod.			Silent	SNP	ENST00000335552.4	37	c.717C>T	CCDS11374.1																																																																																				0.488	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		61	61	0	0	0	1	0	61	61					A	38926339	G	A	38926339	2	1	256	1	0	0	0	0	0	0	0	1	8463	1136	40	1		1	KRT26	17	38926339	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29379906	38926339	42268871	33	28954											
MYH14	79784	broad.mit.edu	37	chr19	50720927	50720927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaagcagcttcccatctAcacagaagccattgtggaga	9	11	1	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:50720927A>G	ENST00000596571.1	+	2	461	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MYH14_ENST00000425460.1_Missense_Mutation_p.Y154C|MYH14_ENST00000440075.2_Missense_Mutation_p.Y154C|MYH14_ENST00000376970.2_Missense_Mutation_p.Y154C|MYH14_ENST00000601313.1_Missense_Mutation_p.Y154C|MYH14_ENST00000598205.1_Missense_Mutation_p.Y154C|MYH14_ENST00000262269.8_Missense_Mutation_p.Y154C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	154	Myosin motor.				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)		CTTCCCATCTACACAGAAGCC	0.607																																						ENST00000440075.2																			0				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						c.(460-462)tAc>tGc		myosin, heavy chain 14, non-muscle							99	109	105					19																	50720927		2185	4284	6469	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50720927A>G	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.461A>G	19.37:g.50720927A>G	ENSP00000472819:p.Tyr154Cys					MYH14_ENST00000262269.8_Missense_Mutation_p.Y154C|MYH14_ENST00000598205.1_Missense_Mutation_p.Y154C|MYH14_ENST00000601313.1_Missense_Mutation_p.Y154C|MYH14_ENST00000596571.1_Missense_Mutation_p.Y154C|MYH14_ENST00000425460.1_Missense_Mutation_p.Y154C|MYH14_ENST00000376970.2_Missense_Mutation_p.Y154C	p.Y154C			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	508	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	154			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.461A>G	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229372	0.79688	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	4.63	4.63	0.57726	Myosin head, motor domain (3);	.	.	.	.	D	0.97158	0.9071	H	0.99011	4.4	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	0.97925	1.0317	9	0.87932	D	0	.	12.3053	0.54898	1.0:0.0:0.0:0.0	.	154;154;154	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	154	ENSP00000406273:Y154C;ENSP00000366169:Y154C;ENSP00000407879:Y154C;ENSP00000262269:Y154C	ENSP00000262269:Y154C	Y	+	2	0	MYH14	55412739	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.083000	0.94067	2.083000	0.62718	0.533000	0.62120	TAC		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		53	73	0	0	0	1	0	53	73					G	50720927	A	G	50720927	3	3	256	1	0	0	0	0	1	0	0	0	10033	391	14	3	467	3	MYH14	19	50720927	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08		50720927	8408056	34	28955											
LILRB2	10288	broad.mit.edu	37	chr19	54782405	54782405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgagatgaagggtgtgcCacggatctgtcctggagaga	15	8	1	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:54782405C>A	ENST00000391749.4	-	7	1238	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.G207C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G323C|LILRB2_ENST00000391748.1_Missense_Mutation_p.G323C|LILRB2_ENST00000391746.1_Missense_Mutation_p.G323C	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	323					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGGGTGTGCCACGGATCTGT	0.597																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(967-969)Ggc>Tgc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							41	54	50					19																	54782405		2189	4300	6489	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782405C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.967G>T	19.37:g.54782405C>A	ENSP00000375629:p.Gly323Cys					LILRB2_ENST00000434421.1_Missense_Mutation_p.G207C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G323C|LILRB2_ENST00000391746.1_Missense_Mutation_p.G323C|LILRB2_ENST00000391749.4_Missense_Mutation_p.G323C	p.G323C	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1094	-	Ovarian(34;0.19)		323					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.967G>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	9.099	1.003556	0.19121	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00792	5.69;5.69;5.69;5.69;5.69	1.88	-3.77	0.04346	.	2.230900	0.02721	N	0.114037	T	0.01835	0.0058	M	0.71036	2.16	0.09310	N	1	P;P;P	0.48764	0.902;0.837;0.915	P;P;P	0.51999	0.687;0.687;0.592	T	0.35798	-0.9774	10	0.59425	D	0.04	.	0.771	0.01024	0.397:0.2545:0.1969:0.1516	.	323;340;323	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	C	323;323;323;323;207	ENSP00000375628:G323C;ENSP00000319960:G323C;ENSP00000375629:G323C;ENSP00000375626:G323C;ENSP00000410117:G207C	ENSP00000319960:G323C	G	-	1	0	LILRB2	59474217	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.207000	0.00558	-1.014000	0.03379	0.442000	0.29010	GGC		0.597	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			6	50	1	0	0.0215528	1	0.0224699	6	50					A	54782405	C	A	54782405	3	1	256	1	0	0	0	0	1	0	0	0	8791	594	21	4	861	4	LILRB2	19	54782405	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	4061478	54782405	4346578	35	28956											
SH3BP1	23616	broad.mit.edu	37	chr22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-													caacaaggtggagacgctgaAggaggaggaggaggagctga							TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr22:38039752_38039754delAGG	ENST00000357436.4	+	7	888_890	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000599616.1_In_Frame_Del_p.E133del|SH3BP1_ENST00000442465.2_In_Frame_Del_p.E197del|SH3BP1_ENST00000336738.5_In_Frame_Del_p.E197del	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	197	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				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)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				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						c.(382-387)aag>a		SH3-domain binding protein 1				1,4261		0,1,2130						5.1	1			112	1,8253		0,1,4126	no	coding	SH3BP1	NM_018957.3		0,2,6256	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12514				SO:0001651	inframe_deletion	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039752_38039754delAGG		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.575_577delAGG	22.37:g.38039761_38039763delAGG	ENSP00000350018:p.Glu197del		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_In_Frame_Del_p.KE192del|SH3BP1_ENST00000357436.4_In_Frame_Del_p.KE192del|SH3BP1_ENST00000336738.5_In_Frame_Del_p.KE192del	p.KE128del			Q9Y3L3	3BP1_HUMAN			5	383_385	+	Melanoma(58;0.0574)		192			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	In_Frame_Del	DEL	ENST00000357436.4	37	c.383_385delAGG	CCDS13952.2																																																																																				0.606	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		10	127						10	127	---	---	---	---	-	38039754	AGG	-	38039752	7	5	256	1	0	1	0	1	0	0	0	0	14244	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-HT-7609-01A-11D-2086-08		38039752	13264814	36	28957											
EIF1AX	1964	broad.mit.edu	37	chrX	20156729	20156729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacccctgcgtctgttttTacctcctttacctgatggtt	6	13	1	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:20156729T>C	ENST00000379607.5	-	2	231	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(28-30)Aaa>Gaa		eukaryotic translation initiation factor 1A, X-linked							143	133	136					X																	20156729		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156729T>C	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.28A>G	X.37:g.20156729T>C	ENSP00000368927:p.Lys10Glu					EIF1AX_ENST00000379593.1_Intron	p.K10E	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	231	-			10					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.28A>G	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423735	0.62733	.	.	ENSG00000173674	ENST00000379607	T	0.51325	0.71	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.74390	0.3710	H	0.96301	3.8	0.80722	D	1	B	0.28636	0.218	P	0.47162	0.54	T	0.79174	-0.1912	9	0.87932	D	0	-2.9692	14.0063	0.64465	0.0:0.0:0.0:1.0	.	10	P47813	IF1AX_HUMAN	E	10	ENSP00000368927:K10E	ENSP00000368927:K10E	K	-	1	0	EIF1AX	20066650	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.441000	0.80485	1.753000	0.51906	0.486000	0.48141	AAA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			35	5	0	0	0	1	0	35	5					C	20156729	T	C	20156729	3	2	256	1	0	0	0	0	1	0	0	0	4992	1763	61	3	430	3	EIF1AX	23	20156729	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		20156729	135113831	37	28958											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70524875	70524875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggttgaaatctccctgGtcaaggctgacccaggatcc	11	13	2	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:70524875G>A	ENST00000373829.3	+	11	950	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.V275I	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	293	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				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)					AATCTCCCTGGTCAAGGCTGA	0.517																																						ENST00000538820.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14						c.(823-825)Gtc>Atc		integrin beta 1 binding protein (melusin) 2							78	63	68					X																	70524875		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70524875G>A	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.877G>A	X.37:g.70524875G>A	ENSP00000362935:p.Val293Ile					ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.V293I	p.V275I			Q9UKP3	ITBP2_HUMAN			10	1163	+	Renal(35;0.156)		293			CS.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.823G>A	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513920	0.27123	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	T;T	0.13657	2.57;2.57	5.01	3.02	0.34903	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.527726	0.19077	N	0.123355	T	0.04724	0.0128	N	0.04203	-0.255	0.26671	N	0.971734	B;B	0.34372	0.451;0.325	B;B	0.32090	0.098;0.14	T	0.31166	-0.9953	10	0.20519	T	0.43	-0.0514	4.3536	0.11167	0.1332:0.2327:0.6341:0.0	.	275;293	Q32N04;Q9UKP3	.;ITBP2_HUMAN	I	293;275	ENSP00000362935:V293I;ENSP00000440289:V275I	ENSP00000362935:V293I	V	+	1	0	ITGB1BP2	70441600	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.015000	0.29963	1.058000	0.40530	0.513000	0.50165	GTC		0.517	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		17	19	0	0	0	1	0	17	19					A	70524875	G	A	70524875	3	1	256	1	0	0	0	0	1	0	0	0	7892	1261	44	2	919	2	ITGB1BP2	23	70524875	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	50368146	70524875	84745685	38	28959											
PCDH19	57526	broad.mit.edu	37	chrX	99661766	99661766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaaagaagccgcggtcGccctcggtcatgtcgtaggt	12	11	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:99661766G>A	ENST00000373034.4	-	1	3505	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	PCDH19_ENST00000255531.7_Silent_p.G610G|PCDH19_ENST00000420881.2_Silent_p.G610G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	610	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)			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						AGCCGCGGTCGCCCTCGGTCA	0.562																																						ENST00000373034.4																			0				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						c.(1828-1830)ggC>ggT		protocadherin 19							62	61	61					X																	99661766		2046	4157	6203	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661766G>A	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.1830C>T	X.37:g.99661766G>A						PCDH19_ENST00000255531.7_Silent_p.G610G|PCDH19_ENST00000420881.2_Silent_p.G610G	p.G610G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3505	-			610			Cadherin 6.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.1830C>T	CCDS55462.1																																																																																				0.562	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	33	0	0	0	1	0	3	33					A	99661766	G	A	99661766	2	1	256	1	0	0	0	0	0	0	0	1	11514	1074	38	1		1	PCDH19	23	99661766	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29136891	99661766	55608794	39	28960											
ODZ1	10178	broad.mit.edu	37	chrX	123519791	123519791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagatgttccggtagtagcCcactgaaagcatggtttgta	12	7	0	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:123519791C>A	ENST00000371130.3	-	28	5854	c.5791G>T	c.(5791-5793)Ggc>Tgc	p.G1931C	TENM1_ENST00000422452.2_Missense_Mutation_p.G1938C|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1931					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)										CGGTAGTAGCCCACTGAAAGC	0.512																																						ENST00000422452.2																			0											c.(5812-5814)Ggc>Tgc		teneurin transmembrane protein 1							144	122	129					X																	123519791		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123519791C>A	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.5791G>T	X.37:g.123519791C>A	ENSP00000360171:p.Gly1931Cys					TENM1_ENST00000371130.3_Missense_Mutation_p.G1931C|STAG2_ENST00000469481.1_Intron	p.G1938C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					29	5875	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5812G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819114	0.90873	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90504	-2.68;-2.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.81497	2.545	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	D	0.95963	0.8963	10	0.87932	D	0	.	18.8683	0.92301	0.0:1.0:0.0:0.0	.	1937;1938;1931	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	1931;1938	ENSP00000360171:G1931C;ENSP00000403954:G1938C	ENSP00000360171:G1931C	G	-	1	0	ODZ1	123347472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.061000	0.71148	2.403000	0.81681	0.594000	0.82650	GGC		0.512	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	54	1	0	0.00909568	1	0.00968888	4	54					A	123519791	C	A	123519791	3	1	256	1	0	0	0	0	1	0	0	0	10834	623	22	4	2402	4	ODZ1	23	123519791	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	23858025	123519791	31750769	40	28961											
OCRL	4952	broad.mit.edu	37	chrX	128710473	128710473	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggcacatccttagaggctCtgtgccgtatgaaaagacca	10	10	1	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:128710473C>G	ENST00000371113.4	+	18	2224	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	OCRL_ENST00000357121.5_Missense_Mutation_p.L687V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	687					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTAGAGGCTCTGTGCCGTAT	0.403																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2059-2061)Ctg>Gtg		oculocerebrorenal syndrome of Lowe							137	115	123					X																	128710473		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128710473C>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2059C>G	X.37:g.128710473C>G	ENSP00000360154:p.Leu687Val					OCRL_ENST00000357121.5_Missense_Mutation_p.L687V	p.L687V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			18	2224	+			687					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2059C>G	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945012	0.53079	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.21734	1.99;1.99	6.05	3.67	0.42095	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.145403	0.47455	D	0.000227	T	0.49558	0.1564	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.49652	-0.8917	10	0.87932	D	0	.	8.1504	0.31137	0.0:0.3106:0.0:0.6894	.	687;687	Q01968-2;Q01968	.;OCRL_HUMAN	V	687	ENSP00000360154:L687V;ENSP00000349635:L687V	ENSP00000349635:L687V	L	+	1	2	OCRL	128538154	0.675000	0.27558	1.000000	0.80357	0.971000	0.66376	0.339000	0.19875	0.375000	0.24679	-0.306000	0.09157	CTG		0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		41	7	0	0	0	1	0	41	7					G	128710473	C	G	128710473	3	3	256	1	0	0	0	0	1	0	0	0	10823	912	32	4	2129	4	OCRL	23	128710473	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	5190682	128710473	26560087	41	28962											
GPC3	2719	broad.mit.edu	37	chrX	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-													acttggtgacaggtggcgtcCggcggcggcggcgggggctg							TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31					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)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(91-93)del		glypican 3																																				SO:0001651	inframe_deletion	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133119384_133119386delCGG	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.91_93delCCG	X.37:g.133119393_133119395delCGG	ENSP00000359854:p.Pro31del					GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			1	536_538	-	Acute lymphoblastic leukemia(192;0.000127)		31					C9JLE3|G3V1R0|Q2L880|Q2L882	In_Frame_Del	DEL	ENST00000370818.3	37	c.91_93delCCG	CCDS14638.1																																																																																				0.69	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		3	6						3	6	---	---	---	---	-	133119386	CGG	-	133119384	7	5	256	1	0	1	0	1	0	0	0	0	6599	639	23	0	1754	0	GPC3	23	133119384	In_Frame_Del	DEL	CGG	TCGA-HT-7609-01A-11D-2086-08	4408911	133119384	22151176	42	28963											
SAGE1	55511	broad.mit.edu	37	chrX	134988660	134988660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgactcttcgaccacggcGtattaatatgacagacactg	9	10	1	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:134988660G>A	ENST00000370709.3	+	6	686	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SAGE1_ENST00000324447.3_Missense_Mutation_p.R229H|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.R229H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	229						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)					CGACCACGGCGTATTAATATG	0.423																																						ENST00000535938.1																			0				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						c.(685-687)cGt>cAt		sarcoma antigen 1							187	158	168					X																	134988660		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134988660G>A	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.686G>A	X.37:g.134988660G>A	ENSP00000359743:p.Arg229His					SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R229H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R229H	p.R229H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			7	853	+	Acute lymphoblastic leukemia(192;0.000127)		229					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.686G>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	4.473	0.087742	0.08583	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.31769	1.48;1.48;1.48	1.18	-0.131	0.13494	.	.	.	.	.	T	0.11024	0.0269	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.28839	-1.0031	9	0.26408	T	0.33	.	3.8228	0.08842	0.0:0.0:0.4048:0.5952	.	229	Q9NXZ1	SAGE1_HUMAN	H	229	ENSP00000323191:R229H;ENSP00000445959:R229H;ENSP00000359743:R229H	ENSP00000323191:R229H	R	+	2	0	SAGE1	134816326	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.503000	0.06383	-0.074000	0.12820	-0.938000	0.02693	CGT		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		5	129	0	0	0	1	0	5	129					A	134988660	G	A	134988660	3	1	256	1	0	0	0	0	1	0	0	0	13809	1145	40	1	708	1	SAGE1	23	134988660	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1869276	134988660	20281900	43	28964											
F5	2153	broad.mit.edu	37	chr1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatacctgtattccttGcctgtccagggatctgctct	7	12	2	0			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:169519050G>A	ENST00000367797.3	-	10	1801	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_ENST00000367796.3_Nonsense_Mutation_p.Q534*|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with thrombophilia; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10942390, ECO:0000269|PubMed:16710414, ECO:0000269|PubMed:8164741, ECO:0000269|Ref.3}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1600-1602)Caa>Taa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						105	98	100					1																	169519050		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519050G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1600C>T	1.37:g.169519050G>A	ENSP00000356771:p.Gln534*					F5_ENST00000367797.3_Nonsense_Mutation_p.Q534*|F5_ENST00000546081.1_3'UTR	p.Q534*			P12259	FA5_HUMAN			10	1801	-	all_hematologic(923;0.208)		534		R -> Q (in Leiden; associated with THR- APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025).	F5/8 type A 2.	Cleavage; by activated protein C.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.1600C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	39	7.389277	0.98255	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.71	2.68	0.31781	.	0.291118	0.33023	N	0.005377	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-1.4446	15.1076	0.72332	0.0:0.0:0.3367:0.6632	.	.	.	.	X	534	.	ENSP00000356770:Q534X	Q	-	1	0	F5	167785674	0.973000	0.33851	0.270000	0.24601	0.951000	0.60555	1.684000	0.37649	0.288000	0.22398	0.655000	0.94253	CAA		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		4	35	0	0	0	1	0	4	35					A	169519050	G	A	169519050	4	1	257	1	0	0	0	0	0	1	0	0	5348	1328	46	2	5138	2	F5	1	169519050	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08		169519050	79731571	1	28965											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	8	12	2	2			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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.P641P(1)		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						CTCTTACCCCTTTTGAATTTC	0.418																																						ENST00000258341.4																			1	Substitution - coding silent(1)	p.P641P(1)	lung(1)	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						c.(1921-1923)ccT>ccC		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122	127	125					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	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.1923T>C	1.37:g.183087214T>C							p.P641P	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			11	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		3	53	0	0	0	1	0	3	53					C	183087214	T	C	183087214	2	2	257	1	0	0	0	0	0	0	0	1	8614	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08	13568164	183087214	66163407	2	28966											
ABCG5	64240	broad.mit.edu	37	chr2	44047075	44047075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaatccagatccaacaAgcacccccgcaatggacagc	9	14	0	2	rs199862542		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:44047075A>G	ENST00000260645.1	-	11	1767	c.1628T>C	c.(1627-1629)cTt>cCt	p.L543P	ABCG5_ENST00000405322.1_Missense_Mutation_p.L372P|ABCG5_ENST00000543989.1_Missense_Mutation_p.L148P	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	543	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)	AGATCCAACAAGCACCCCCGC	0.368																																						ENST00000543989.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(442-444)cTt>cCt		ATP-binding cassette, sub-family G (WHITE), member 5							106	104	104					2																	44047075		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44047075A>G	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.1628T>C	2.37:g.44047075A>G	ENSP00000260645:p.Leu543Pro					ABCG5_ENST00000405322.1_Missense_Mutation_p.L372P|ABCG5_ENST00000260645.1_Missense_Mutation_p.L543P	p.L148P			Q9H222	ABCG5_HUMAN			7	2148	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	543			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.443T>C	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020076	0.75275	.	.	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	T;T;T	0.75821	-0.97;-0.97;-0.97	4.91	4.91	0.64330	ABC-2 type transporter (1);	0.000000	0.64402	D	0.000007	D	0.83769	0.5326	M	0.66939	2.045	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.68353	0.957;0.929	D	0.85906	0.1437	10	0.87932	D	0	.	14.3691	0.66828	1.0:0.0:0.0:0.0	.	372;543	E7EX35;Q9H222	.;ABCG5_HUMAN	P	543;372;148	ENSP00000260645:L543P;ENSP00000384513:L372P;ENSP00000445107:L148P	ENSP00000260645:L543P	L	-	2	0	ABCG5	43900579	1.000000	0.71417	0.380000	0.26093	0.949000	0.60115	6.830000	0.75319	2.050000	0.60909	0.533000	0.62120	CTT		0.368	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		18	89	0	0	0	1	0	18	89					G	44047075	A	G	44047075	3	3	257	1	0	0	0	0	1	0	0	0	71	72	3	3	339	3	ABCG5	2	44047075	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		44047075	199152298	3	28967											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	60	0	0	0	1	0	25	60					T	209113112	C	T	209113112	3	4	257	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08	165066037	209113112	34086261	4	28968											
CPS1	1373	broad.mit.edu	37	chr2	211454894	211454894	+	Frame_Shift_Del	DEL	T	T	-													caagatggagtatgatgggaTtttgatcgcgggaggaccgg							TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:211454894delT	ENST00000233072.5	+	8	972	c.776delT	c.(775-777)attfs	p.I259fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.I265fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	259	Glutamine amidotransferase type-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)	TATGATGGGATTTTGATCGCG	0.448																																						ENST00000233072.5																			0				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						c.(775-777)atfs		carbamoyl-phosphate synthase 1, mitochondrial							215	224	221					2																	211454894		2203	4300	6503	SO:0001589	frameshift_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211454894delT	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.776delT	2.37:g.211454894delT	ENSP00000233072:p.Ile259fs					CPS1_ENST00000430249.2_Frame_Shift_Del_p.I265fs	p.I259fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	8	972	+			259			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Frame_Shift_Del	DEL	ENST00000233072.5	37	c.776delT	CCDS2393.1																																																																																				0.448	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			15	361						15	361	---	---	---	---	-	211454894	T	-	211454894	7	5	257	1	0	1	0	1	0	0	0	0	3823	1493	52	0	828	0	CPS1	2	211454894	Frame_Shift_Del	DEL	T	TCGA-HT-7610-01A-21D-2086-08	2341782	211454894	31744479	5	28969											
TRIP12	9320	broad.mit.edu	37	chr2	230668911	230668911	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctttcataagctgtgctcGagcatcatccttctttgact	6	12	4	1			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:230668911G>A	ENST00000283943.5	-	18	2636	c.2458C>T	c.(2458-2460)Cga>Tga	p.R820*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R868*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R550*|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	820	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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)		AGCTGTGCTCGAGCATCATCC	0.363																																						ENST00000283943.5																			0				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						c.(2458-2460)Cga>Tga		thyroid hormone receptor interactor 12							79	88	85					2																	230668911		2203	4300	6503	SO:0001587	stop_gained	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230668911G>A	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.2458C>T	2.37:g.230668911G>A	ENSP00000283943:p.Arg820*					TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R868*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R550*	p.R820*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	18	2636	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	820			WWE.		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	c.2458C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	42	9.334900	0.99140	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8878	0.70584	0.0:0.0:0.8566:0.1434	.	.	.	.	X	820;550;868	.	ENSP00000283943:R820X	R	-	1	2	TRIP12	230377155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.056000	0.64287	2.750000	0.94351	0.484000	0.47621	CGA		0.363	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		28	51	0	0	0	1	0	28	51					A	230668911	G	A	230668911	4	1	257	1	0	0	0	0	0	1	0	0	16553	1066	37	1	3616	1	TRIP12	2	230668911	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	19214017	230668911	12530462	6	28970											
ASTE1	28990	broad.mit.edu	37	chr3	130732931	130732931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggcctcactatgttcCtctaagttttcaaccattaa	6	10	3	0			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr3:130732931C>T	ENST00000264992.3	-	6	2451	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ASTE1_ENST00000514044.1_Silent_p.E695E|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	670					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CACTATGTTCCTCTAAGTTTT	0.393																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(2008-2010)gaG>gaA		asteroid homolog 1 (Drosophila)							97	91	93					3																	130732931		2203	4300	6503	SO:0001819	synonymous_variant	28990				DNA repair		nuclease activity	g.chr3:130732931C>T	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.2010G>A	3.37:g.130732931C>T						ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ASTE1_ENST00000514044.1_Silent_p.E695E	p.E670E	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			6	2451	-			670					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	ENST00000264992.3	37	c.2010G>A	CCDS3068.1																																																																																				0.393	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		12	57	0	0	0	1	0	12	57					T	130732931	C	T	130732931	2	4	257	1	0	0	0	0	0	0	0	1	1062	680	24	2		2	ASTE1	3	130732931	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08		130732931	67289499	7	28971											
LPHN3	23284	broad.mit.edu	37	chr4	62813869	62813869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttggagctactccaagCgtacaatgacaggttattgg	10	8	0	1	rs370521883		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr4:62813869C>T	ENST00000514591.1	+	16	2805	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_ENST00000506720.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826C|LPHN3_ENST00000512091.2_Missense_Mutation_p.R826C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CTACTCCAAGCGTACAATGAC	0.388																																						ENST00000512091.1																			0				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						c.(2476-2478)Cgt>Tgt		latrophilin 3		C	CYS/ARG	1,3743		0,1,1871	86	76	79		2476	6	1	4		79	1,8205		0,1,4102	no	missense	LPHN3	NM_015236.4	180	0,2,5973	TT,TC,CC		0.0122,0.0267,0.0167	probably-damaging	826/1470	62813869	2,11948	1872	4103	5975	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813869C>T	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.2476C>T	4.37:g.62813869C>T	ENSP00000422533:p.Arg826Cys					LPHN3_ENST00000514591.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894C	p.R826C			Q9HAR2	LPHN3_HUMAN			16	3223	+			813			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2476C>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.61|19.61	3.859574|3.859574	0.71834|0.71834	2.67E-4|2.67E-4	1.22E-4|1.22E-4	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.71461	.|-0.54;-0.54;-0.55;-0.54;-0.53;-0.54;-0.54;-0.55;-0.54;-0.54;-0.54;-0.56;-0.57;-0.56;-0.55	5.98|5.98	5.98|5.98	0.97165|0.97165	.|GPS domain (3);	.|0.113991	.|0.53938	.|D	.|0.000055	D|D	0.85186|0.85186	0.5639|0.5639	M|M	0.87456|0.87456	2.885|2.885	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;P	.|0.65773	.|0.938;0.938;0.855	D|D	0.87030|0.87030	0.2134|0.2134	5|10	.|0.87932	.|D	.|0	.|.	15.2612|15.2612	0.73625|0.73625	0.1402:0.8598:0.0:0.0|0.1402:0.8598:0.0:0.0	.|.	.|826;813;826	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	V|C	283|826;826;894;894;826;826;813;826;894;894;894;826;826;826;894;894;826	.|ENSP00000423388:R826C;ENSP00000422533:R826C;ENSP00000423787:R894C;ENSP00000425033:R894C;ENSP00000424120:R826C;ENSP00000439831:R826C;ENSP00000421476:R894C;ENSP00000424030:R894C;ENSP00000421372:R894C;ENSP00000425201:R826C;ENSP00000423434:R826C;ENSP00000421627:R826C;ENSP00000420931:R894C;ENSP00000425884:R894C;ENSP00000424258:R826C	.|ENSP00000280009:R826C	A|R	+|+	2|1	0|0	LPHN3|LPHN3	62496464|62496464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.864000|3.864000	0.56024|0.56024	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GCG|CGT		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	20	0	0	0	1	0	5	20					T	62813869	C	T	62813869	3	4	257	1	0	0	0	0	1	0	0	0	8917	768	27	1	2530	1	LPHN3	4	62813869	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		62813869	128340407	8	28972											
KCNU1	157855	broad.mit.edu	37	chr8	36721928	36721928	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctatcctattgcagtgccatCggtaaagagaatgaaaaaat	8	7	0	2	rs375926423		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:36721928C>A	ENST00000399881.3	+	19	1935	c.1898C>A	c.(1897-1899)tCg>tAg	p.S633*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	633					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)		GCAGTGCCATCGGTAAAGAGA	0.448																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1897-1899)tCg>tAg		potassium channel, subfamily U, member 1							114	106	109					8																	36721928		1853	4089	5942	SO:0001587	stop_gained	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36721928C>A	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.1898C>A	8.37:g.36721928C>A	ENSP00000382770:p.Ser633*						p.S633*	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	19	1935	+			633						Nonsense_Mutation	SNP	ENST00000399881.3	37	c.1898C>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021755	0.75275	.	.	ENSG00000215262	ENST00000399881	.	.	.	4.12	-4.22	0.03800	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6599	0.8552	0.01181	0.3958:0.1863:0.2434:0.1745	.	.	.	.	X	633	.	ENSP00000382770:S633X	S	+	2	0	KCNU1	36841086	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.521000	0.06245	-0.926000	0.03770	0.460000	0.39030	TCG		0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		4	68	1	0	0.00909568	1	0.00947467	4	68					A	36721928	C	A	36721928	4	1	257	1	0	0	0	0	0	1	0	0	8093	893	31	4	1972	4	KCNU1	8	36721928	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		36721928	109642094	9	28973											
GPR124	25960	broad.mit.edu	37	chr8	37698691	37698691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggatctatttcctgtgCgccgggctacgcttacgggg	13	12	1	0	rs200170236		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:37698691C>T	ENST00000412232.2	+	19	2848	c.2835C>T	c.(2833-2835)tgC>tgT	p.C945C	GPR124_ENST00000315215.7_Silent_p.C728C	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	945					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)			ATTTCCTGTGCGCCGGGCTAC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		11504	0.0		0.001	False		,,,				2504	0.0					ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2182-2184)tgC>tgT		G protein-coupled receptor 124							81	88	85					8																	37698691		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698691C>T	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.2835C>T	8.37:g.37698691C>T						GPR124_ENST00000412232.2_Silent_p.C945C	p.C728C			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2547	+			945			GPS.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.2184C>T	CCDS6097.2																																																																																				0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			10	84	0	0	0	1	0	10	84					T	37698691	C	T	37698691	2	4	257	1	0	0	0	0	0	0	0	1	6638	776	27	1		1	GPR124	8	37698691	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08	976763	37698691	108665331	10	28974											
PAPOLA	10914	broad.mit.edu	37	chr14	97031339	97031339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccctgctctccctgcaaaTcctattcctgttatcaagaa	4	14	2	1			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr14:97031339T>G	ENST00000216277.8	+	22	2410	c.2190T>G	c.(2188-2190)aaT>aaG	p.N730K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.N709K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	730	Required for interaction with NUDT21.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCCCTGCAAATCCTATTCCTG	0.373																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(2188-2190)aaT>aaG		poly(A) polymerase alpha							154	149	151					14																	97031339		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97031339T>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2190T>G	14.37:g.97031339T>G	ENSP00000216277:p.Asn730Lys					PAPOLA_ENST00000392990.2_Missense_Mutation_p.N709K	p.N730K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	22	2410	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	730			Required for interaction with NUDT21.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.2190T>G	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952427	0.53293	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990	.	.	.	5.26	1.49	0.22878	.	0.053858	0.64402	D	0.000001	T	0.34308	0.0893	L	0.29908	0.895	0.41284	D	0.98693	P;P;P	0.37330	0.59;0.455;0.455	B;B;B	0.30646	0.118;0.077;0.077	T	0.13098	-1.0522	9	0.72032	D	0.01	.	9.2993	0.37835	0.0:0.2097:0.0:0.7903	.	725;746;730	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	K	730;725;709	.	ENSP00000216277:N730K	N	+	3	2	PAPOLA	96101092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.071000	0.30666	0.061000	0.16311	0.528000	0.53228	AAT		0.373	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			28	60	0	0	0	1	0	28	60					G	97031339	T	G	97031339	3	3	257	1	0	0	0	0	1	0	0	0	11429	1432	50	5	2276	5	PAPOLA	14	97031339	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08		97031339	10318201	11	28975											
SLC12A1	6557	broad.mit.edu	37	chr15	48580649	48580649	+	Frame_Shift_Del	DEL	A	A	-													taactctcagaaaaaaatggAaagactgtaaattaagaatc							TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr15:48580649delA	ENST00000558405.1	+	22	2823	c.2809delA	c.(2809-2811)aaafs	p.K937fs	SLC12A1_ENST00000380993.3_Frame_Shift_Del_p.K937fs|SLC12A1_ENST00000396577.3_Frame_Shift_Del_p.K937fs			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	937					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)	AAAAAAATGGAAAGACTGTAA	0.328																																						ENST00000396577.3																			0				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						c.(2809-2811)aafs		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						35	33	33					15																	48580649		2191	4280	6471	SO:0001589	frameshift_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48580649delA		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.2809delA	15.37:g.48580649delA	ENSP00000453409:p.Lys937fs					SLC12A1_ENST00000558405.1_Frame_Shift_Del_p.K937fs|SLC12A1_ENST00000380993.3_Frame_Shift_Del_p.K937fs	p.K937fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	23	3024	+		all_lung(180;0.00219)	937					A8JYA2|E9PDW4	Frame_Shift_Del	DEL	ENST00000558405.1	37	c.2809delA	CCDS10129.2																																																																																				0.328	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			2	4						2	4	---	---	---	---	-	48580649	A	-	48580649	7	5	257	1	0	1	0	1	0	0	0	0	14382	247	9	0	2995	0	SLC12A1	15	48580649	Frame_Shift_Del	DEL	A	TCGA-HT-7610-01A-21D-2086-08		48580649	53950743	12	28976											
HBZ	3050	broad.mit.edu	37	chr16	202926	202926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtctctgaccaagacTgagaggaccatcattgtgtc	10	11	2	3			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr16:202926T>C	ENST00000252951.2	+	1	241	c.18T>C	c.(16-18)acT>acC	p.T6T		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	6					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGACCAAGACTGAGAGGACCA	0.612											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000252951.2																			0											c.(16-18)acT>acC		hemoglobin, zeta							118	67	85					16																	202926		2203	4300	6503	SO:0001819	synonymous_variant	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202926T>C	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.18T>C	16.37:g.202926T>C			OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586		p.T6T	NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN			1	241	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	6					Q6IBF6	Silent	SNP	ENST00000252951.2	37	c.18T>C	CCDS10397.1																																																																																				0.612	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332		20	39	0	0	0	1	0	20	39					C	202926	T	C	202926	2	2	257	1	0	0	0	0	0	0	0	1	6989	1567	55	3		3	HBZ	16	202926	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08		202926	90151827	13	28977											
SENP3	26168	broad.mit.edu	37	chr17	7474041	7474041	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggcggtaaagaaagacCgactggatttccaccagggc	13	10	0	3			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7474041C>T	ENST00000429205.2	+	10	1571	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	EIF4A1_ENST00000577269.1_5'Flank|SENP3_ENST00000321337.7_Nonsense_Mutation_p.R507*|EIF4A1_ENST00000582746.1_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000293831.8_5'Flank|SENP3_ENST00000578868.1_3'UTR|EIF4A1_ENST00000380512.5_5'Flank			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	508	Protease.					cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AAAGAAAGACCGACTGGATTT	0.473																																						ENST00000321337.7																			0				central_nervous_system(1)|ovary(1)	2						c.(1519-1521)Cga>Tga		SUMO1/sentrin/SMT3 specific peptidase 3							47	48	48					17																	7474041		1867	4105	5972	SO:0001587	stop_gained	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7474041C>T	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.1522C>T	17.37:g.7474041C>T	ENSP00000403712:p.Arg508*					SENP3_ENST00000429205.2_Nonsense_Mutation_p.R508*|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	p.R507*	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN			10	1839	+		Prostate(122;0.157)	508			Protease.		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Nonsense_Mutation	SNP	ENST00000429205.2	37	c.1519C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.352529	0.98774	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	.	.	.	5.18	4.21	0.49690	.	0.151777	0.45606	D	0.000342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2315	12.8897	0.58064	0.1639:0.8361:0.0:0.0	.	.	.	.	X	507;508	.	ENSP00000314029:R507X	R	+	1	2	SENP3	7414765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.965000	0.49200	1.397000	0.46682	0.655000	0.94253	CGA		0.473	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		6	17	0	0	0	1	0	6	17					T	7474041	C	T	7474041	4	4	257	1	0	0	0	0	0	1	0	0	14048	644	23	1	1553	1	SENP3	17	7474041	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		7474041	73721169	14	28978											
TP53	7157	broad.mit.edu	37	chr17	7577593	7577593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgtagtggatggtggTacagtcagagccaacctagg	15	6	1	1			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7577593T>G	ENST00000269305.4	-	7	877	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	TP53_ENST00000420246.2_Missense_Mutation_p.T230P|TP53_ENST00000445888.2_Missense_Mutation_p.T230P|TP53_ENST00000359597.4_Missense_Mutation_p.T230P|TP53_ENST00000413465.2_Missense_Mutation_p.T230P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.T230P	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	230	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.0?(8)|p.?(5)|p.T230P(2)|p.T230fs*6(2)|p.T230S(2)|p.C229_H233delCTTIH(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.T230_Y234delTTIHY(1)|p.C229_T230insX(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.T230A(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)	TGGATGGTGGTACAGTCAGAG	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		31	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(5)|Unknown(5)|Substitution - Missense(5)|Insertion - In frame(1)	p.0?(8)|p.?(5)|p.T230P(2)|p.T230fs*6(2)|p.T230S(2)|p.C229_H233delCTTIH(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.T230_Y234delTTIHY(1)|p.C229_T230insX(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.T230A(1)	biliary_tract(6)|breast(5)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(1)|ovary(1)|liver(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						c.(688-690)Acc>Ccc	Other conserved DNA damage response genes	tumor protein p53							107	86	93					17																	7577593		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577593T>G	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.688A>C	17.37:g.7577593T>G	ENSP00000269305:p.Thr230Pro	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)				TP53_ENST00000359597.4_Missense_Mutation_p.T230P|TP53_ENST00000413465.2_Missense_Mutation_p.T230P|TP53_ENST00000445888.2_Missense_Mutation_p.T230P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.T230P|TP53_ENST00000455263.2_Missense_Mutation_p.T230P	p.T230P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	820	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	230		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.688A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336256	0.81801	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	4.48	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);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	M	0.88450	2.955	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.99;0.972;0.981;0.998;0.992;1.0	D;D;D;D;D;D	0.91635	0.99;0.942;0.974;0.996;0.992;0.999	D	0.96871	0.9639	10	0.87932	D	0	-18.2284	12.0534	0.53520	0.0:0.0:0.0:1.0	.	230;230;137;230;230;230	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	P	230;230;230;230;230;230;219;137;98;137	ENSP00000410739:T230P;ENSP00000352610:T230P;ENSP00000269305:T230P;ENSP00000398846:T230P;ENSP00000391127:T230P;ENSP00000391478:T230P;ENSP00000425104:T98P;ENSP00000423862:T137P	ENSP00000269305:T230P	T	-	1	0	TP53	7518318	1.000000	0.71417	0.925000	0.36789	0.954000	0.61252	4.837000	0.62796	2.004000	0.58718	0.379000	0.24179	ACC		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	47	0	0	0	1	0	17	47					G	7577593	T	G	7577593	3	3	257	1	0	0	0	0	1	0	0	0	16378	1638	57	5	602	5	TP53	17	7577593	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08	103552	7577593	73617617	15	28979											
TP53	7157	broad.mit.edu	37	chr17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaacccacagctgcacaggGcaggtcttggccagttggca	12	13	2	0			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7578507G>C	ENST00000269305.4	-	5	612	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000420246.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C141W	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in 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.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)	GCTGCACAGGGCAGGTCTTGG	0.577		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		55	Substitution - Missense(16)|Substitution - Nonsense(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(1)	ovary(13)|lung(9)|breast(6)|oesophagus(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(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						c.(421-423)tgC>tgG	Other conserved DNA damage response genes	tumor protein p53							57	56	56					17																	7578507		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578507G>C	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.423C>G	17.37:g.7578507G>C	ENSP00000269305:p.Cys141Trp	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)				TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000269305.4_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W	p.C141W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	555	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.423C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936103	0.34189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.48	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99775	0.9907	M	0.90309	3.105	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	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D	0.98853	1.0759	10	0.87932	D	0	-26.1094	8.3736	0.32430	0.2952:0.0:0.7048:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141W;ENSP00000352610:C141W;ENSP00000269305:C141W;ENSP00000398846:C141W;ENSP00000391127:C141W;ENSP00000391478:C141W;ENSP00000425104:C9W;ENSP00000423862:C48W;ENSP00000424104:C141W	ENSP00000269305:C141W	C	-	3	2	TP53	7519232	1.000000	0.71417	0.987000	0.45799	0.022000	0.10575	1.115000	0.31209	0.236000	0.21180	0.655000	0.94253	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	26	0	0	0	1	0	24	26					C	7578507	G	C	7578507	3	2	257	1	0	0	0	0	1	0	0	0	16378	1195	42	4	875	4	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	914	7578507	73616703	16	28980											
KRT27	342574	broad.mit.edu	37	chr17	38936093	38936093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgttgcctccagccgcGcactgaagagctttcatttc	8	14	2	2			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:38936093G>A	ENST00000301656.3	-	4	745	c.705C>T	c.(703-705)tgC>tgT	p.C235C	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCAGCCGCGCACTGAAGAG	0.483																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(703-705)tgC>tgT		keratin 27							47	49	49					17																	38936093		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936093G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.705C>T	17.37:g.38936093G>A							p.C235C	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	745	-		Breast(137;0.000812)	235			Linker 12.|Rod.			Silent	SNP	ENST00000301656.3	37	c.705C>T	CCDS11375.1																																																																																				0.483	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		10	35	0	0	0	1	0	10	35					A	38936093	G	A	38936093	2	1	257	1	0	0	0	0	0	0	0	1	8464	1079	38	1		1	KRT27	17	38936093	Silent	SNP	G	TCGA-HT-7610-01A-21D-2086-08	31357586	38936093	42259117	17	28981											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	98	0	0	0	1	0	6	98					G	37028425	A	G	37028425	3	3	257	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		37028425	118242135	18	28982											
BCOR	54880	broad.mit.edu	37	chrX	39931690	39931690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcggtcacccacgtaacccGctgagttggcgattctcttt	9	13	2	1			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:39931690G>A	ENST00000378444.4	-	4	3137	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V	BCOR_ENST00000378455.4_Missense_Mutation_p.A970V|BCOR_ENST00000397354.3_Missense_Mutation_p.A970V|BCOR_ENST00000342274.4_Missense_Mutation_p.A970V	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	970					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						CACGTAACCCGCTGAGTTGGC	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(2908-2910)gCg>gTg		BCL6 corepressor							80	49	59					X																	39931690		2201	4300	6501	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39931690G>A	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.2909C>T	X.37:g.39931690G>A	ENSP00000367705:p.Ala970Val					BCOR_ENST00000378444.4_Missense_Mutation_p.A970V|BCOR_ENST00000397354.3_Missense_Mutation_p.A970V|BCOR_ENST00000378455.4_Missense_Mutation_p.A970V	p.A970V	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	3271	-			970					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.2909C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320853	0.81469	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.83	5.83	0.93111	.	.	.	.	.	T	0.25232	0.0613	L	0.29908	0.895	0.51012	D	0.999905	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.981;0.994;0.981	T	0.01266	-1.1401	9	0.87932	D	0	-15.0673	19.0657	0.93108	0.0:0.0:1.0:0.0	.	970;970;970;970	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	V	970;970;970;970;970;377	ENSP00000367716:A970V;ENSP00000380512:A970V;ENSP00000367705:A970V;ENSP00000345923:A970V;ENSP00000384485:A970V	ENSP00000345923:A970V	A	-	2	0	BCOR	39816634	1.000000	0.71417	0.901000	0.35422	0.992000	0.81027	9.476000	0.97823	2.452000	0.82932	0.600000	0.82982	GCG		0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	24	0	0	0	1	0	4	24					A	39931690	G	A	39931690	3	1	257	1	0	0	0	0	1	0	0	0	1386	1087	38	1	2406	1	BCOR	23	39931690	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	2903265	39931690	115338870	19	28983											
ATRX	546	broad.mit.edu	37	chrX	76890083	76890083	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatattcttcagctcttAcctgtaaagtcttaccaagg	5	11	5	0			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:76890083A>C	ENST00000373344.5	-	17	5024		c.e17+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TTCAGCTCTTACCTGTAAAGT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e17+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151	143	146					X																	76890083		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890083A>C	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.4809+1T>G	X.37:g.76890083A>C						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	5024	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817183	0.70912	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7218	0.69311	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76776739	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.932000	0.92897	1.857000	0.53885	0.486000	0.48141	.		0.398	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	31	65	0	0	0	1	0	31	65					C	76890083	A	C	76890083	5	2	257	1	0	0	0	0	0	0	1	0	1208	405	14	5	2743	5	ATRX	23	76890083	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	36958393	76890083	78380477	20	28984											
STAG2	10735	broad.mit.edu	37	chrX	123196967	123196967	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatctttatatttcacagtActctgtagatgcagaaaagg	8	6	3	3			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:123196967A>T	ENST00000371160.1	+	19	2023	c.1733A>T	c.(1732-1734)tAc>tTc	p.Y578F	STAG2_ENST00000354548.5_Splice_Site_p.Y509F|STAG2_ENST00000371145.3_Splice_Site_p.Y578F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Splice_Site_p.Y578F|STAG2_ENST00000218089.9_Splice_Site_p.Y578F|STAG2_ENST00000371144.3_Splice_Site_p.Y578F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	578					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						ATTTCACAGTACTCTGTAGAT	0.313																																						ENST00000371160.1																			0				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						c.e19-1		stromal antigen 2							55	53	54					X																	123196967		2203	4299	6502	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123196967A>T	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.1732-1A>T	X.37:g.123196967A>T						STAG2_ENST00000371145.3_Splice_Site_p.Y578_splice|STAG2_ENST00000371144.3_Splice_Site_p.Y578_splice|STAG2_ENST00000218089.9_Splice_Site_p.Y578_splice|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Splice_Site_p.Y578_splice|STAG2_ENST00000354548.5_Splice_Site_p.Y509_splice	p.Y578_splice			Q8N3U4	STAG2_HUMAN			19	2023	+			578					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.1731_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688640	0.48097	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.43923	1.385	0.80722	D	1	D;B	0.54207	0.965;0.093	P;B	0.58391	0.838;0.058	T	0.03875	-1.0996	10	0.12430	T	0.62	-22.6533	14.763	0.69619	1.0:0.0:0.0:0.0	.	578;578	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	F	578;509;578;578;578;578	ENSP00000218089:Y578F;ENSP00000346555:Y509F;ENSP00000360202:Y578F;ENSP00000360199:Y578F;ENSP00000360187:Y578F;ENSP00000360186:Y578F	ENSP00000218089:Y578F	Y	+	2	0	STAG2	123024648	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.284000	0.95882	1.867000	0.54127	0.441000	0.28932	TAC		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Missense_Mutation	8	19	0	0	0	1	0	8	19					T	123196967	A	T	123196967	5	4	257	1	0	0	0	0	0	0	1	0	15242	405	14	5	1799	5	STAG2	23	123196967	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	46306884	123196967	32073593	21	28985											
ATAD3C	219293	broad.mit.edu	37	chr1	1396282	1396282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagtatgttcttaagccggCcacagaaggaaagcggtaag	13	8	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:1396282C>A	ENST00000378785.2	+	10	1960	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	322							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	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;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)		CTTAAGCCGGCCACAGAAGGA	0.627																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(964-966)gCc>gAc		ATPase family, AAA domain containing 3C							129	108	114					1																	1396282		692	1591	2283	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1396282C>A	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.965C>A	1.37:g.1396282C>A	ENSP00000368062:p.Ala322Asp						p.A322D	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		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)	10	1960	+	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)	322					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.965C>A	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	10.79	1.449404	0.26074	.	.	ENSG00000215915	ENST00000378785	D	0.94046	-3.34	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	L	0.55017	1.72	0.80722	D	1	B	0.32620	0.378	B	0.27170	0.077	D	0.88078	0.2805	10	0.52906	T	0.07	.	11.6921	0.51521	0.0:1.0:0.0:0.0	.	322	Q5T2N8	ATD3C_HUMAN	D	322	ENSP00000368062:A322D	ENSP00000368062:A322D	A	+	2	0	ATAD3C	1386145	1.000000	0.71417	0.988000	0.46212	0.011000	0.07611	7.417000	0.80156	1.139000	0.42245	0.205000	0.17691	GCC		0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		7	36	1	0	0.0293803	1	0.0293803	7	36					A	1396282	C	A	1396282	3	1	258	1	0	0	0	0	1	0	0	0	1075	739	26	4	1003	4	ATAD3C	1	1396282	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		1396282	247854339	1	28986											
ARID1A	8289	broad.mit.edu	37	chr1	27056286	27056286	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacgggtcccagaccccgCagcggtacccgatgaccatg	11	16	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:27056286C>T	ENST00000324856.7	+	2	1653	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q428*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q45*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	428					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)		CCAGACCCCGCAGCGGTACCC	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(1282-1284)Cag>Tag		AT rich interactive domain 1A (SWI-like)							45	49	48					1																	27056286		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056286C>T	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.1282C>T	1.37:g.27056286C>T	ENSP00000320485:p.Gln428*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q428*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q45*	p.Q428*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	2	1653	+		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)	428					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1282C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.356864	0.97502	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.4111	20.3771	0.98923	0.0:1.0:0.0:0.0	.	.	.	.	X	428;428;45;45	.	ENSP00000320485:Q428X	Q	+	1	0	ARID1A	26928873	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.406000	0.80017	2.824000	0.97209	0.650000	0.86243	CAG		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	81	0	0	0	1	0	11	81					T	27056286	C	T	27056286	4	4	258	1	0	0	0	0	0	1	0	0	913	711	25	2	1288	2	ARID1A	1	27056286	Nonsense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	25660004	27056286	222194335	2	28987											
RNF19B	127544	broad.mit.edu	37	chr1	33402666	33402666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggtttgctggccaggCagtctttctgttcacagctt	10	12	3	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:33402666C>T	ENST00000373456.7	-	9	1939	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	RNF19B_ENST00000235150.4_Missense_Mutation_p.C646Y|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	647					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTGGCCAGGCAGTCTTTCTG	0.547																																						ENST00000373456.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(1939-1941)tGc>tAc		ring finger protein 19B							131	118	122					1																	33402666		2203	4300	6503	SO:0001583	missense	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402666C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1940G>A	1.37:g.33402666C>T	ENSP00000362555:p.Cys647Tyr					RNF19B_ENST00000235150.4_Missense_Mutation_p.C646Y|RNF19B_ENST00000356990.5_3'UTR	p.C647Y	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN			9	1939	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	647					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	c.1940G>A	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691449	0.68271	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.34072	1.38;1.38	4.91	4.91	0.64330	.	0.125552	0.56097	D	0.000034	T	0.42154	0.1190	N	0.19112	0.55	0.50813	D	0.999895	D;D	0.65815	0.995;0.991	P;P	0.61201	0.885;0.77	T	0.31779	-0.9931	10	0.41790	T	0.15	.	16.3028	0.82831	0.0:1.0:0.0:0.0	.	646;647	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	Y	647;646	ENSP00000362555:C647Y;ENSP00000235150:C646Y	ENSP00000235150:C646Y	C	-	2	0	RNF19B	33175253	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.182000	0.42556	2.443000	0.82685	0.537000	0.68136	TGC		0.547	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		58	81	0	0	0	1	0	58	81					T	33402666	C	T	33402666	3	4	258	1	0	0	0	0	1	0	0	0	13471	710	25	2	262	2	RNF19B	1	33402666	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	6346380	33402666	215847955	3	28988											
LCE3C	353144	broad.mit.edu	37	chr1	152573380	152573380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgagccaccacaGgcacttcaggtcccatcaat	8	16	2	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:152573380G>A	ENST00000333881.3	+	1	243	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	58					keratinization (GO:0031424)					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCCACCACAGGCACTTCAGG	0.642																																						ENST00000333881.3																			0				lung(1)	1						c.(172-174)aGg>aAg		late cornified envelope 3C							52	49	50					1																	152573380		1810	2702	4512	SO:0001583	missense	353144				keratinization			g.chr1:152573380G>A	BI670516	CCDS1015.1	1q21.3	2008-02-05		2004-10-15	ENSG00000244057	ENSG00000244057		"Late cornified envelopes"	16612	protein-coding gene	gene with protein product		612615	"small proline rich-like (epidermal differentiation complex) 3A"	SPRL3A		11698679	Standard	NM_178434		Approved	LEP15	uc001fac.2	Q5T5A8	OTTHUMG00000014403	ENST00000333881.3:c.173G>A	1.37:g.152573380G>A	ENSP00000334644:p.Arg58Lys						p.R58K	NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)	1	243	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58					A1L420	Missense_Mutation	SNP	ENST00000333881.3	37	c.173G>A	CCDS1015.1	.	.	.	.	.	.	.	.	.	.	G	3.634	-0.075029	0.07184	.	.	ENSG00000244057	ENST00000333881	T	0.08720	3.06	4.01	2.07	0.26955	.	.	.	.	.	T	0.02193	0.0068	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.43114	-0.9411	8	0.87932	D	0	.	6.4177	0.21725	0.2388:0.0:0.7612:0.0	.	58	Q5T5A8	LCE3C_HUMAN	K	58	ENSP00000334644:R58K	ENSP00000334644:R58K	R	+	2	0	LCE3C	150840004	0.514000	0.26202	0.705000	0.30386	0.060000	0.15804	2.296000	0.43584	0.890000	0.36211	0.313000	0.20887	AGG		0.642	LCE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040061.2	NM_178434		73	9	0	0	0	1	0	73	9					A	152573380	G	A	152573380	3	1	258	1	0	0	0	0	1	0	0	0	8671	1000	35	2	175	2	LCE3C	1	152573380	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	119170714	152573380	96677241	4	28989											
SNAPIN	23557	broad.mit.edu	37	chr1	153633756	153633756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattcgggaatttacccCcctggctccccaggcaaata	9	14	0	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:153633756C>T	ENST00000368685.5	+	4	480	c.390C>T	c.(388-390)ccC>ccT	p.P130P	ILF2_ENST00000480213.1_5'Flank|SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	130	Interaction with TOR1A.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATTTACCCCCCTGGCTCCC	0.507																																						ENST00000368685.5																			0				lung(3)	3						c.(388-390)ccC>ccT		SNAP-associated protein							83	81	82					1																	153633756		2203	4300	6503	SO:0001819	synonymous_variant	23557				intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	g.chr1:153633756C>T	AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.390C>T	1.37:g.153633756C>T						SNAPIN_ENST00000478558.1_3'UTR	p.P130P	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	480	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		130					D3DV56|Q5SXU8	Silent	SNP	ENST00000368685.5	37	c.390C>T	CCDS1049.1																																																																																				0.507	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		8	38	0	0	0	1	0	8	38					T	153633756	C	T	153633756	2	4	258	1	0	0	0	0	0	0	0	1	14839	610	22	2		2	SNAPIN	1	153633756	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08	1060376	153633756	95616865	5	28990											
SPTBN1	6711	broad.mit.edu	37	chr2	54853094	54853094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgggtttgaccttcctgCagttgaggccgccacaaaaa	10	11	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:54853094C>T	ENST00000356805.4	+	12	1648	c.1367C>T	c.(1366-1368)gCa>gTa	p.A456V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A443V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	456					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)			GACCTTCCTGCAGTTGAGGCC	0.522																																						ENST00000333896.5																			0				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						c.(1327-1329)gCa>gTa		spectrin, beta, non-erythrocytic 1							54	54	54					2																	54853094		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54853094C>T		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.1367C>T	2.37:g.54853094C>T	ENSP00000349259:p.Ala456Val					SPTBN1_ENST00000356805.4_Missense_Mutation_p.A456V	p.A443V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1713	+			456					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1328C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413703	0.96072	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.46063	0.88;0.88;0.88	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.947;0.998	T	0.80077	-0.1533	10	0.87932	D	0	.	19.3007	0.94143	0.0:1.0:0.0:0.0	.	443;456	Q01082-3;Q01082	.;SPTB2_HUMAN	V	456;456;443	ENSP00000349259:A456V;ENSP00000374630:A456V;ENSP00000334156:A443V	ENSP00000334156:A443V	A	+	2	0	SPTBN1	54706598	1.000000	0.71417	0.164000	0.22755	0.977000	0.68977	7.767000	0.85331	2.541000	0.85698	0.650000	0.86243	GCA		0.522	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			11	35	0	0	0	1	0	11	35					T	54853094	C	T	54853094	3	4	258	1	0	0	0	0	1	0	0	0	15118	710	25	2	1522	2	SPTBN1	2	54853094	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		54853094	188346279	6	28991											
TTN	7273	broad.mit.edu	37	chr2	179417788	179417788	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcaaagtgactgtgcctcGagaaacatgtttaacctgta	10	8	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:179417788G>A	ENST00000591111.1	-	285	85140	c.84916C>T	c.(84916-84918)Cga>Tga	p.R28306*	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R21074*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R29947*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27379*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R21007*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20882*|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28306	Fibronectin type-III 106. {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)			ACTGTGCCTCGAGAAACATGT	0.423																																						ENST00000589042.1																			0				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						c.(89839-89841)Cga>Tga		titin							79	76	77					2																	179417788		1906	4113	6019	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417788G>A	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.84916C>T	2.37:g.179417788G>A	ENSP00000465570:p.Arg28306*					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20882*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R28306*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R21074*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R21007*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27379*	p.R29947*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		335	90063	-			28306			Fibronectin type-III 118.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.89839C>T		.	.	.	.	.	.	.	.	.	.	G	66	95.207490	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.49	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9738	0.80044	0.0:0.0:0.8558:0.1442	.	.	.	.	X	27379;20882;21074;21007;20879	.	ENSP00000340554:R21074X	R	-	1	2	TTN	179126034	0.942000	0.31987	0.933000	0.37362	0.978000	0.69477	2.471000	0.45127	1.367000	0.46095	0.655000	0.94253	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	43	0	0	0	1	0	8	43					A	179417788	G	A	179417788	4	1	258	1	0	0	0	0	0	1	0	0	16732	1066	37	1	18252	1	TTN	2	179417788	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	124564694	179417788	63781585	7	28992											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	52	0	0	0	1	0	24	52					C	209113113	G	C	209113113	3	2	258	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	29695325	209113113	34086260	8	28993											
AGAP1	116987	broad.mit.edu	37	chr2	236626276	236626276	+	Nonsense_Mutation	SNP	G	G	T													cgggcacatatgtccaggagGagtctccggaaggtatgctg							TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626276G>T	ENST00000304032.8	+	3	878	c.298G>T	c.(298-300)Gag>Tag	p.E100*	AGAP1_ENST00000409538.1_Nonsense_Mutation_p.E365*|AGAP1_ENST00000409457.1_Nonsense_Mutation_p.E100*|AGAP1_ENST00000336665.5_Nonsense_Mutation_p.E100*	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	100	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCCAGGAGGAGTCTCCGGA	0.448																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1093-1095)Gag>Tag		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							79	73	75					2																	236626276		2203	4300	6503	SO:0001587	stop_gained	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236626276G>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.298G>T	2.37:g.236626276G>T	ENSP00000307634:p.Glu100*					AGAP1_ENST00000336665.5_Nonsense_Mutation_p.E100*|AGAP1_ENST00000304032.7_Nonsense_Mutation_p.E100*|AGAP1_ENST00000409457.1_Nonsense_Mutation_p.E100*	p.E365*			Q9UPQ3	AGAP1_HUMAN			3	1589	+			100			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Nonsense_Mutation	SNP	ENST00000304032.8	37	c.1093G>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	43	10.392760	0.99397	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	.	.	.	5.2	5.2	0.72013	.	0.134574	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1418	0.93449	0.0:0.0:1.0:0.0	.	.	.	.	X	100;100;100;47;365	.	ENSP00000307634:E100X	E	+	1	0	AGAP1	236291015	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.685000	0.98661	2.595000	0.87683	0.655000	0.94253	GAG		0.448	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		16	55	1	0	2.23348e-06	1	2.44029e-06	16	55					T	236626276	G	T	236626276	4	4	258	1	0	0	0	0	0	1	0	0	366	1175	41	4	308	4	AGAP1	2	236626276	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	27513163	236626276	6573097	9	28994	137	2									
AGAP1	116987	broad.mit.edu	37	chr2	236626277	236626277	+	Missense_Mutation	SNP	A	A	C													gggcacatatgtccaggaggAgtctccggaaggtatgctgt							TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626277A>C	ENST00000304032.8	+	3	879	c.299A>C	c.(298-300)gAg>gCg	p.E100A	AGAP1_ENST00000409538.1_Missense_Mutation_p.E365A|AGAP1_ENST00000409457.1_Missense_Mutation_p.E100A|AGAP1_ENST00000336665.5_Missense_Mutation_p.E100A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	100	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCCAGGAGGAGTCTCCGGAA	0.448																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1093-1095)gAg>gCg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							79	73	75					2																	236626277		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236626277A>C	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.299A>C	2.37:g.236626277A>C	ENSP00000307634:p.Glu100Ala					AGAP1_ENST00000336665.5_Missense_Mutation_p.E100A|AGAP1_ENST00000304032.7_Missense_Mutation_p.E100A|AGAP1_ENST00000409457.1_Missense_Mutation_p.E100A	p.E365A			Q9UPQ3	AGAP1_HUMAN			3	1590	+			100			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1094A>C	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721468	0.89298	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.2	5.2	0.72013	Mitochondrial Rho-like (1);	0.134574	0.48286	D	0.000186	D	0.84101	0.5398	M	0.81239	2.535	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79784	0.917;0.993	D	0.85333	0.1091	10	0.48119	T	0.1	.	15.4022	0.74849	1.0:0.0:0.0:0.0	.	100;100	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	A	100;100;100;47;365	ENSP00000387174:E100A;ENSP00000307634:E100A;ENSP00000338378:E100A;ENSP00000385492:E47A;ENSP00000386897:E365A	ENSP00000307634:E100A	E	+	2	0	AGAP1	236291016	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.167000	0.94773	2.099000	0.63709	0.533000	0.62120	GAG		0.448	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		16	55	0	0	0	1	0	16	55					C	236626277	A	C	236626277	3	2	258	1	0	0	0	0	1	0	0	0	366	304	11	5	309	5	AGAP1	2	236626277	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08	1	236626277	6573096	10	28995	137	2									
PLEKHG4B	153478	broad.mit.edu	37	chr5	161918	161918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcctgccagaaaggactAcagctggcgaaggagaaccc	11	12	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:161918A>G	ENST00000283426.6	+	10	1490	c.1440A>G	c.(1438-1440)ctA>ctG	p.L480L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	480							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAAGGACTACAGCTGGCGA	0.582																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1438-1440)ctA>ctG		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							84	80	81					5																	161918		2203	4300	6503	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:161918A>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1440A>G	5.37:g.161918A>G							p.L480L	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1490	+			480						Silent	SNP	ENST00000283426.6	37	c.1440A>G	CCDS34124.1																																																																																				0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		11	41	0	0	0	1	0	11	41					G	161918	A	G	161918	2	3	258	1	0	0	0	0	0	0	0	1	12072	378	14	3		3	PLEKHG4B	5	161918	Silent	SNP	A	TCGA-HT-7611-01A-11D-2395-08		161918	180753342	11	28996											
HAPLN1	1404	broad.mit.edu	37	chr5	82937364	82937364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catacagcttatgctttttaTctgggaaacccacgaagcgc	8	11	1	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:82937364T>A	ENST00000274341.4	-	5	1866	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	339	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ATGCTTTTTATCTGGGAAACC	0.517																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(1015-1017)gAt>gTt		hyaluronan and proteoglycan link protein 1							130	140	137					5																	82937364		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937364T>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"Immunoglobulin superfamily / V-set domain containing"	2380	protein-coding gene	gene with protein product	"Cartilage link protein", "hyaluronan and proteoglycan link protein 1"	115435	"cartilage linking protein 1"	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1016A>T	5.37:g.82937364T>A	ENSP00000274341:p.Asp339Val						p.D339V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1866	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	339			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.1016A>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608916	0.66558	.	.	ENSG00000145681	ENST00000274341	T	0.28895	1.59	5.22	5.22	0.72569	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.66378	2.025	0.80722	D	1	D	0.58970	0.984	D	0.64144	0.922	T	0.51888	-0.8648	10	0.48119	T	0.1	.	15.4173	0.74980	0.0:0.0:0.0:1.0	.	339	P10915	HPLN1_HUMAN	V	339	ENSP00000274341:D339V	ENSP00000274341:D339V	D	-	2	0	HAPLN1	82973120	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	6.097000	0.71452	2.088000	0.63022	0.533000	0.62120	GAT		0.517	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		10	170	0	0	0	1	0	10	170					A	82937364	T	A	82937364	3	1	258	1	0	0	0	0	1	0	0	0	6954	1435	50	5	52	5	HAPLN1	5	82937364	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	82775446	82937364	97977896	12	28997											
KIAA0319	9856	broad.mit.edu	37	chr6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggactctggccatccCggatccacagataggacaca	10	14	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:24566850C>A	ENST00000378214.3	-	14	2791	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	KIAA0319_ENST00000535378.1_Missense_Mutation_p.R747L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2239-2241)cGg>cTg		KIAA0319							99	96	97					6																	24566850		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24566850C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2267G>T	6.37:g.24566850C>A	ENSP00000367459:p.Arg756Leu					KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L	p.R747L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			15	2882	-			756			PKD 5.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2240G>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534720	0.85812	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	4.01	4.01	0.46588	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.64402	D	0.000005	T	0.20495	0.0493	L	0.39514	1.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.03112	-1.1071	10	0.72032	D	0.01	-18.6805	16.3188	0.82938	0.0:1.0:0.0:0.0	.	756;747;756	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	L	756;747;711;756;756	ENSP00000439700:R756L;ENSP00000442403:R747L;ENSP00000401086:R711L;ENSP00000367459:R756L;ENSP00000437656:R756L	ENSP00000367459:R756L	R	-	2	0	KIAA0319	24674829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.679000	0.61649	2.055000	0.61198	0.591000	0.81541	CGG		0.463	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		39	58	1	0	2.19358e-23	1	2.44191e-23	39	58					A	24566850	C	A	24566850	3	1	258	1	0	0	0	0	1	0	0	0	8168	652	23	4	983	4	KIAA0319	6	24566850	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		24566850	146548217	13	28998											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104327	26104327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcatttccggtcttaTctatgaggagactcgaggtg	12	9	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:26104327T>C	ENST00000377803.2	+	1	224	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	51					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						TCCGGTCTTATCTATGAGGAG	0.542																																						ENST00000377803.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(151-153)aTc>aCc		histone cluster 1, H4c							72	69	70					6																	26104327		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104327T>C	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.152T>C	6.37:g.26104327T>C	ENSP00000367034:p.Ile51Thr						p.I51T	NM_003542.3	NP_003533.1	P62805	H4_HUMAN			1	224	+			51					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.152T>C	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.347592	0.61183	.	.	ENSG00000197061	ENST00000377803	T	0.66099	-0.19	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.71777	-0.4490	7	0.66056	D	0.02	.	13.5543	0.61751	0.0:0.0:0.0:1.0	.	.	.	.	T	51	ENSP00000367034:I51T	ENSP00000367034:I51T	I	+	2	0	HIST1H4C	26212306	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.868000	0.87116	2.052000	0.61016	0.459000	0.35465	ATC		0.542	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		10	50	0	0	0	1	0	10	50					C	26104327	T	C	26104327	3	2	258	1	0	0	0	0	1	0	0	0	7167	1435	50	3	154	3	HIST1H4C	6	26104327	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1537477	26104327	145010740	14	28999											
EPHB6	2051	broad.mit.edu	37	chr7	142568143	142568143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagataccctgcaggctggCggggacccaggggaaaggtc	16	12	0	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:142568143C>T	ENST00000392957.2	+	18	3571	c.2784C>T	c.(2782-2784)ggC>ggT	p.G928G	EPHB6_ENST00000442129.1_Silent_p.G928G|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.G651G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	928						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)					TGCAGGCTGGCGGGGACCCAG	0.582																																						ENST00000392957.2																			0				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						c.(2782-2784)ggC>ggT		EPH receptor B6							46	57	53					7																	142568143		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568143C>T	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.2784C>T	7.37:g.142568143C>T						EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.G651G|EPHB6_ENST00000442129.1_Silent_p.G928G	p.G928G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			18	3571	+	Melanoma(164;0.059)		928					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.2784C>T	CCDS5873.2																																																																																				0.582	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			27	106	0	0	0	1	0	27	106					T	142568143	C	T	142568143	2	4	258	1	0	0	0	0	0	0	0	1	5178	755	27	1		1	EPHB6	7	142568143	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08		142568143	16570520	15	29000											
ABP1	26	broad.mit.edu	37	chr7	150556078	150556078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcctgcagatccactccAtggccgaccaggtgctgccc	10	18	0	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:150556078A>G	ENST00000493429.1	+	5	2382	c.1798A>G	c.(1798-1800)Atg>Gtg	p.M600V	AOC1_ENST00000360937.4_Missense_Mutation_p.M600V|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.M600V|AOC1_ENST00000467291.1_Missense_Mutation_p.M600V			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	600					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GATCCACTCCATGGCCGACCA	0.647																																						ENST00000493429.1																			0											c.(1798-1800)Atg>Gtg		amine oxidase, copper containing 1							12	14	13					7																	150556078		1906	4110	6016	SO:0001583	missense	26							g.chr7:150556078A>G	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1798A>G	7.37:g.150556078A>G	ENSP00000418614:p.Met600Val					AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.M600V|AOC1_ENST00000416793.2_Missense_Mutation_p.M600V|AOC1_ENST00000467291.1_Missense_Mutation_p.M600V	p.M600V							5	2382	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1798A>G	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508521	0.27036	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03413	3.94;3.94;3.94;3.94	5.57	3.19	0.36642	Copper amine oxidase, C-terminal (3);	0.208217	0.53938	D	0.000056	T	0.03520	0.0101	L	0.53729	1.69	0.27327	N	0.956876	B;B	0.15719	0.014;0.008	B;B	0.21151	0.033;0.011	T	0.41052	-0.9530	10	0.16420	T	0.52	-33.1521	1.9961	0.03457	0.578:0.1714:0.0865:0.1641	.	600;600	C9J690;P19801	.;ABP1_HUMAN	V	600;600;600;126;600;476	ENSP00000418614:M600V;ENSP00000418328:M600V;ENSP00000354193:M600V;ENSP00000411613:M600V	ENSP00000354193:M600V	M	+	1	0	ABP1	150187011	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.671000	0.25172	0.918000	0.36919	0.459000	0.35465	ATG		0.647	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		5	12	0	0	0	1	0	5	12					G	150556078	A	G	150556078	3	3	258	1	0	0	0	0	1	0	0	0	98	217	8	3	1804	3	ABP1	7	150556078	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08	7987935	150556078	8582585	16	29001											
TRPM6	140803	broad.mit.edu	37	chr9	77377091	77377091	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttgttgagttatcagatAgggagctgtcctgggcctgc	13	8	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:77377091A>G	ENST00000360774.1	-	26	4733	c.4496T>C	c.(4495-4497)cTa>cCa	p.L1499P	TRPM6_ENST00000361255.3_Missense_Mutation_p.L1494P|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1494P|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1499P|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1499P|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1499					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						GTTATCAGATAGGGAGCTGTC	0.507																																						ENST00000451710.3																			0				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						c.(4495-4497)cTa>cCa		transient receptor potential cation channel, subfamily M, member 6							134	119	124					9																	77377091		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377091A>G	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.4496T>C	9.37:g.77377091A>G	ENSP00000354006:p.Leu1499Pro					TRPM6_ENST00000449912.2_Missense_Mutation_p.L1494P|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1499P|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1494P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1499P	p.L1499P			Q9BX84	TRPM6_HUMAN			26	4733	-			1499					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4496T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877787	0.51801	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.56444	0.56;0.56;0.56;0.56;0.46	5.05	3.89	0.44902	.	1.328000	0.05220	N	0.508462	T	0.58850	0.2151	L	0.51422	1.61	0.09310	N	0.999997	D;D;D	0.59767	0.976;0.969;0.986	P;P;P	0.51016	0.454;0.656;0.564	T	0.41980	-0.9478	10	0.28530	T	0.3	.	10.9734	0.47452	0.8368:0.1632:0.0:0.0	.	1499;1494;1494	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	P	1499;1499;1494;1494;1499	ENSP00000354006:L1499P;ENSP00000407341:L1499P;ENSP00000396672:L1494P;ENSP00000354962:L1494P;ENSP00000366060:L1499P	ENSP00000354006:L1499P	L	-	2	0	TRPM6	76566911	0.015000	0.18098	0.001000	0.08648	0.004000	0.04260	2.758000	0.47565	0.753000	0.32945	0.533000	0.62120	CTA		0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		17	118	0	0	0	1	0	17	118					G	77377091	A	G	77377091	3	3	258	1	0	0	0	0	1	0	0	0	16587	420	15	3	1628	3	TRPM6	9	77377091	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		77377091	63836340	17	29002											
OR1Q1	158131	broad.mit.edu	37	chr9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatcctggtggtcctcCggatcccctcagccaagggc	11	16	2	0	rs544593447		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					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(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20910	0.0		0.0	False		,,,				2504	0.001					ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(679-681)Cgg>Tgg		olfactory receptor, family 1, subfamily Q, member 1							119	116	117					9																	125377695		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377695C>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.679C>T	9.37:g.125377695C>T	ENSP00000297913:p.Arg227Trp					RP11-64P14.7_ENST00000431442.1_RNA	p.R227W	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	748	+			227					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.679C>T	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492667	0.26774	.	.	ENSG00000165202	ENST00000297913	T	0.00269	8.37	5.57	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	1.273640	0.05577	N	0.572082	T	0.00384	0.0012	H	0.94658	3.565	0.09310	N	1	B	0.27140	0.169	B	0.23419	0.046	T	0.46162	-0.9211	10	0.87932	D	0	-4.7971	10.9065	0.47084	0.7161:0.2116:0.0:0.0723	.	227	Q15612	OR1Q1_HUMAN	W	227	ENSP00000297913:R227W	ENSP00000297913:R227W	R	+	1	2	OR1Q1	124417516	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-0.929000	0.03976	-0.081000	0.12662	0.650000	0.86243	CGG		0.537	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			33	123	0	0	0	1	0	33	123					T	125377695	C	T	125377695	3	4	258	1	0	0	0	0	1	0	0	0	10971	643	23	1	681	1	OR1Q1	9	125377695	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	48000604	125377695	15835736	18	29003											
NCS1	23413	broad.mit.edu	37	chr9	132934945	132934945	+	Start_Codon_Del	DEL	G	G	-													gggccgcggccgccgaggatGgggaaatccaacagcaagtt							TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:132934945delG	ENST00000372398.3	+	0	89					NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1						calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|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)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)			large_intestine(1)|lung(4)|stomach(1)	6						cgccgAGGATGGGGAAATCCA	0.751																																					Melanoma(30;182 1162 22581 33240)	ENST00000372398.3																			0				large_intestine(1)|lung(4)|stomach(1)	6								neuronal calcium sensor 1							21	16	17					9																	132934945		2170	4260	6430	SO:0001582	initiator_codon_variant	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132934945delG	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"EF-hand domain containing"	3953	protein-coding gene	gene with protein product		603315	"frequenin (Drosophila) homolog", "frequenin homolog (Drosophila)"	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801		9.37:g.132934945delG								NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN			0	89	+								E9PAY3|P36610|Q9UK26	Translation_Start_Site	DEL	ENST00000372398.3	37		CCDS6932.1																																																																																				0.751	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		2	4						2	4	---	---	---	---	-	132934945	G	-	132934945	7	5	258	1	0	1	0	1	0	0	0	0	10240	1348	47	0	5	0	NCS1	9	132934945	Start_Codon_Del	DEL	G	TCGA-HT-7611-01A-11D-2395-08	7557250	132934945	8278486	19	29004											
ABO	28	broad.mit.edu	37	chr9	136131727	136131727	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtctccaggaacagctTcaggaaagccacgtatctgc	10	14	3	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:136131727T>C	ENST00000453660.2	-	0	401				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGGAACAGCTTCAGGAAAGCC	0.701																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							38	40	39					9																	136131727		1936	4103	6039			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131727T>C	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131727T>C										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	401	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.701	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		33	41	0	0	0	1	0	33	41					C	136131727	T	C	136131727	1	2	258	0	1	0	0	0	0	0	0	0	97	1792	62	3		3	ABO	9	136131727	RNA	SNP	T	TCGA-HT-7611-01A-11D-2395-08	3196782	136131727	5081704	20	29005											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctgctctcgcagggCggccacctccttcctcagtt	9	18	2	0	rs200332352		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr11:64603009C>T	ENST00000342711.5	-	15	1842	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCTCGCAGGGCGGCCACCTCC	0.692																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1843-1845)Gcc>Acc		CDC42 binding protein kinase gamma (DMPK-like)							40	46	44					11																	64603009		2200	4297	6497	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64603009C>T	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.1843G>A	11.37:g.64603009C>T	ENSP00000345133:p.Ala615Thr						p.A615T	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			15	1842	-			615						Missense_Mutation	SNP	ENST00000342711.5	37	c.1843G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	5.581	0.292037	0.10567	.	.	ENSG00000171219	ENST00000342711	T	0.21734	1.99	3.87	1.92	0.25849	.	0.483380	0.17268	N	0.180503	T	0.11367	0.0277	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.28522	-1.0041	10	0.25106	T	0.35	.	5.2973	0.15758	0.1997:0.6878:0.0:0.1125	.	615	Q6DT37	MRCKG_HUMAN	T	615	ENSP00000345133:A615T	ENSP00000345133:A615T	A	-	1	0	CDC42BPG	64359585	0.000000	0.05858	0.008000	0.14137	0.867000	0.49689	-0.802000	0.04545	0.353000	0.24079	-0.448000	0.05591	GCC		0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		14	124	0	0	0	1	0	14	124					T	64603009	C	T	64603009	3	4	258	1	0	0	0	0	1	0	0	0	3074	768	27	1	2904	1	CDC42BPG	11	64603009	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		64603009	70403507	21	29006											
FOXM1	2305	broad.mit.edu	37	chr12	2983282	2983283	+	Frame_Shift_Del	DEL	GA	GA	-													ctggtttgggtttgaggccgGagtcctggaggctgagttgg							TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr12:2983282_2983283delGA	ENST00000359843.3	-	2	430_431	c.362_363delTC	c.(361-363)ctcfs	p.L121fs	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000342628.2_Frame_Shift_Del_p.L121fs	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	121					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAGG	0.54																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(361-363)cfs		forkhead box M1																																				SO:0001589	frameshift_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983282_2983283delGA	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.362_363delTC	12.37:g.2983282_2983283delGA	ENSP00000352901:p.Leu121fs					FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000537018.1_5'UTR	p.L121fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	475_476	-			121					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Frame_Shift_Del	DEL	ENST00000359843.3	37	c.362_363delTC	CCDS8515.1																																																																																				0.54	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		27	120						27	120	---	---	---	---	-	2983283	GA	-	2983282	7	5	258	1	0	1	0	1	0	0	0	0	6018	1161	41	0	2078	0	FOXM1	12	2983282	Frame_Shift_Del	DEL	GA	TCGA-HT-7611-01A-11D-2395-08		2983282	130868613	22	29007											
STOML3	161003	broad.mit.edu	37	chr13	39564828	39564828	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgaaattctctttatcttGcttctcaggtgaagacaccc	6	12	3	2	rs147878470		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr13:39564828G>A	ENST00000379631.4	-	1	375	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	STOML3_ENST00000423210.1_5'UTR	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	11					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)		TCTTTATCTTGCTTCTCAGGT	0.388																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(31-33)Caa>Taa		stomatin (EPB72)-like 3							140	134	136					13																	39564828		2203	4300	6503	SO:0001587	stop_gained	0					integral to membrane|plasma membrane		g.chr13:39564828G>A	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.31C>T	13.37:g.39564828G>A	ENSP00000368952:p.Gln11*					STOML3_ENST00000423210.1_5'UTR	p.Q11*	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		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)	1	375	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	11					B4E285|Q5JS35	Nonsense_Mutation	SNP	ENST00000379631.4	37	c.31C>T	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765598	0.96906	.	.	ENSG00000133115	ENST00000379631	.	.	.	5.27	5.27	0.74061	.	1.407170	0.04221	N	0.333600	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.5535	11.524	0.50569	0.0:0.0:0.8213:0.1787	.	.	.	.	X	11	.	ENSP00000368952:Q11X	Q	-	1	0	STOML3	38462828	0.842000	0.29525	0.598000	0.28837	0.212000	0.24457	2.998000	0.49465	2.456000	0.83038	0.650000	0.86243	CAA		0.388	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			17	80	0	0	0	1	0	17	80					A	39564828	G	A	39564828	4	1	258	1	0	0	0	0	0	1	0	0	15314	1328	46	2	901	2	STOML3	13	39564828	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39564828	75605050	23	29008											
DLK1	8788	broad.mit.edu	37	chr14	101200659	101200659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacattgggggcgacttccGctgccggtgcccagccggct	15	14	0	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr14:101200659G>A	ENST00000341267.4	+	5	820	c.578G>A	c.(577-579)cGc>cAc	p.R193H	DLK1_ENST00000331224.6_Missense_Mutation_p.R193H	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	193	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGCGACTTCCGCTGCCGGTGC	0.662																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(577-579)cGc>cAc		delta-like 1 homolog (Drosophila)							41	47	45					14																	101200659		2202	4300	6502	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200659G>A	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.578G>A	14.37:g.101200659G>A	ENSP00000340292:p.Arg193His					DLK1_ENST00000331224.6_Missense_Mutation_p.R193H	p.R193H	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	820	+		Melanoma(154;0.155)	193			EGF-like 5.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.578G>A	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556365	0.65425	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.67865	-0.29;-0.29	4.58	2.65	0.31530	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.335706	0.28589	N	0.014817	T	0.67813	0.2933	L	0.31926	0.97	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.87578	0.998;0.58	T	0.65038	-0.6265	10	0.45353	T	0.12	.	5.8575	0.18728	0.1723:0.1585:0.6692:0.0	.	193;193	P80370-2;P80370	.;DLK1_HUMAN	H	193	ENSP00000340292:R193H;ENSP00000331081:R193H	ENSP00000331081:R193H	R	+	2	0	DLK1	100270412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.492000	0.45311	0.870000	0.35726	0.491000	0.48974	CGC		0.662	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			4	62	0	0	0	1	0	4	62					A	101200659	G	A	101200659	3	1	258	1	0	0	0	0	1	0	0	0	4564	1087	38	1	596	1	DLK1	14	101200659	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		101200659	6148881	24	29009											
CHRM5	1133	broad.mit.edu	37	chr15	34356257	34356257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagacactgagtgccAttctcctggccttcatcatc	7	16	3	2	rs373677487		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:34356257A>G	ENST00000383263.5	+	3	2009	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	CHRM5_ENST00000557872.1_Missense_Mutation_p.I447V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	447					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	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)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	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)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACTGAGTGCCATTCTCCTGGC	0.512																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(1339-1341)Att>Gtt		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	A	VAL/ILE	1,4401	2.1+/-5.4	0,1,2200	186	141	156		1339	5.4	1	15		156	0,8596		0,0,4298	no	missense	CHRM5	NM_012125.3	29	0,1,6498	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	447/533	34356257	1,12997	2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34356257A>G		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1339A>G	15.37:g.34356257A>G	ENSP00000372750:p.Ile447Val					CHRM5_ENST00000557872.1_Missense_Mutation_p.I447V	p.I447V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	2009	+		all_lung(180;1.76e-08)	447					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.1339A>G	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702671	0.68501	2.27E-4	0.0	ENSG00000184984	ENST00000383263	T	0.34072	1.38	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.050075	0.85682	D	0.000000	T	0.60274	0.2256	M	0.70842	2.15	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	T	0.64183	-0.6467	10	0.87932	D	0	-16.4242	15.6958	0.77494	1.0:0.0:0.0:0.0	.	447	P08912	ACM5_HUMAN	V	447	ENSP00000372750:I447V	ENSP00000372750:I447V	I	+	1	0	CHRM5	32143549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.288000	0.76882	0.528000	0.53228	ATT		0.512	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			35	64	0	0	0	1	0	35	64					G	34356257	A	G	34356257	3	3	258	1	0	0	0	0	1	0	0	0	3380	217	8	3	1341	3	CHRM5	15	34356257	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		34356257	68175135	25	29010											
CASC5	57082	broad.mit.edu	37	chr15	40915064	40915064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctattgtattttcagaagacGataagaatgatatggatatc	8	4	1	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:40915064G>A	ENST00000346991.5	+	11	3070	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D868N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	894	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCAGAAGACGATAAGAATGA	0.333																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(2680-2682)Gat>Aat		cancer susceptibility candidate 5							71	69	70					15																	40915064		1827	4074	5901	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915064G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2680G>A	15.37:g.40915064G>A	ENSP00000335463:p.Asp894Asn					CASC5_ENST00000399668.2_Missense_Mutation_p.D868N|CASC5_ENST00000527044.1_3'UTR	p.D894N			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3070	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	894			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.2680G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014587	0.19355	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.35236	1.32;1.32	5.03	2.09	0.27110	.	0.698644	0.12945	N	0.426301	T	0.24122	0.0584	L	0.41236	1.265	0.09310	N	1	B;B;B	0.22983	0.003;0.003;0.078	B;B;B	0.20384	0.003;0.003;0.029	T	0.31641	-0.9936	10	0.06365	T	0.9	.	8.882	0.35380	0.25:0.0:0.75:0.0	.	868;894;868	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	N	894;868;868	ENSP00000335463:D894N;ENSP00000382576:D868N	ENSP00000260369:D868N	D	+	1	0	CASC5	38702356	0.000000	0.05858	0.016000	0.15963	0.493000	0.33554	-0.019000	0.12546	0.157000	0.19338	0.508000	0.49915	GAT		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		10	92	0	0	0	1	0	10	92					A	40915064	G	A	40915064	3	1	258	1	0	0	0	0	1	0	0	0	2663	1058	37	1	2718	1	CASC5	15	40915064	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	6558807	40915064	61616328	26	29011											
GPRC5B	51704	broad.mit.edu	37	chr16	19883181	19883181	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggccttgttctccatataGgcccgcggcagctgcacgtc	11	14	1	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883181G>C	ENST00000300571.2	-	2	1178	c.987C>G	c.(985-987)gcC>gcG	p.A329A	GPRC5B_ENST00000535671.1_Silent_p.A329A|GPRC5B_ENST00000537135.1_Silent_p.A355A|GPRC5B_ENST00000569479.1_Silent_p.A329A|GPRC5B_ENST00000569847.1_Silent_p.A329A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	329					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						TCTCCATATAGGCCCGCGGCA	0.597																																						ENST00000300571.2																			0				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						c.(985-987)gcC>gcG		G protein-coupled receptor, family C, group 5, member B							81	78	79					16																	19883181		2197	4300	6497	SO:0001819	synonymous_variant	0							g.chr16:19883181G>C	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.987C>G	16.37:g.19883181G>C						GPRC5B_ENST00000537135.1_Silent_p.A355A|GPRC5B_ENST00000535671.1_Silent_p.A329A|GPRC5B_ENST00000569847.1_Silent_p.A329A|GPRC5B_ENST00000569479.1_Silent_p.A329A	p.A329A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1178	-			329					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.987C>G	CCDS10581.1																																																																																				0.597	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			9	83	0	0	0	1	0	9	83					C	19883181	G	C	19883181	2	2	258	1	0	0	0	0	0	0	0	1	6725	987	35	4		4	GPRC5B	16	19883181	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		19883181	70471572	27	29012											
GPRC5B	51704	broad.mit.edu	37	chr16	19883826	19883826	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggtctcgtcctcctggatGatgaaggcaaacgtcagccc	11	12	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883826G>T	ENST00000300571.2	-	2	533	c.342C>A	c.(340-342)atC>atA	p.I114I	GPRC5B_ENST00000535671.1_Silent_p.I114I|GPRC5B_ENST00000537135.1_Silent_p.I140I|GPRC5B_ENST00000569479.1_Silent_p.I114I|GPRC5B_ENST00000569847.1_Silent_p.I114I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	114					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						CCTCCTGGATGATGAAGGCAA	0.612																																						ENST00000300571.2																			0				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						c.(340-342)atC>atA		G protein-coupled receptor, family C, group 5, member B							31	29	29					16																	19883826		2197	4300	6497	SO:0001819	synonymous_variant	0							g.chr16:19883826G>T	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.342C>A	16.37:g.19883826G>T						GPRC5B_ENST00000537135.1_Silent_p.I140I|GPRC5B_ENST00000535671.1_Silent_p.I114I|GPRC5B_ENST00000569847.1_Silent_p.I114I|GPRC5B_ENST00000569479.1_Silent_p.I114I	p.I114I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	533	-			114					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.342C>A	CCDS10581.1																																																																																				0.612	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			5	27	1	0	0.000602214	1	0.000623345	5	27					T	19883826	G	T	19883826	2	4	258	1	0	0	0	0	0	0	0	1	6725	1280	45	4		4	GPRC5B	16	19883826	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08	645	19883826	70470927	28	29013											
CHD9	80205	broad.mit.edu	37	chr16	53348818	53348818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacctcaaggaattcctgaTacagaaagtccagttccagt	7	11	1	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:53348818T>A	ENST00000398510.3	+	35	7533	c.7446T>A	c.(7444-7446)gaT>gaA	p.D2482E	CHD9_ENST00000447540.1_Missense_Mutation_p.D2467E|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466E|CHD9_ENST00000566029.1_Missense_Mutation_p.D2466E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2482					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)				GAATTCCTGATACAGAAAGTC	0.398																																						ENST00000566029.1																			0				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						c.(7396-7398)gaT>gaA		chromodomain helicase DNA binding protein 9							113	106	108					16																	53348818		1821	4087	5908	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53348818T>A	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.7446T>A	16.37:g.53348818T>A	ENSP00000381522:p.Asp2482Glu					CHD9_ENST00000447540.1_Missense_Mutation_p.D2467E|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466E|CHD9_ENST00000398510.3_Missense_Mutation_p.D2482E	p.D2466E			Q3L8U1	CHD9_HUMAN			36	7607	+		all_cancers(37;0.0212)	2482			Binds A/T-rich DNA.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7398T>A		.	.	.	.	.	.	.	.	.	.	T	19.12	3.765826	0.69878	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	T	0.42131	0.98	5.82	0.893	0.19236	BRK domain (2);	0.000000	0.64402	D	0.000010	T	0.50480	0.1618	L	0.40543	1.245	0.39808	D	0.972666	D;D;D;D	0.71674	0.998;0.986;0.998;0.996	D;P;D;D	0.83275	0.996;0.648;0.996;0.99	T	0.49881	-0.8892	10	0.72032	D	0.01	-21.418	10.0956	0.42473	0.0:0.2574:0.0:0.7426	.	548;2467;2482;2466	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	E	2467;2466;548	ENSP00000396345:D2467E	ENSP00000381522:D2466E	D	+	3	2	CHD9	51906319	0.694000	0.27738	0.783000	0.31826	0.932000	0.56968	1.051000	0.30417	0.112000	0.17975	0.533000	0.62120	GAT		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		14	82	0	0	0	1	0	14	82					A	53348818	T	A	53348818	3	1	258	1	0	0	0	0	1	0	0	0	3332	1403	49	5	7536	5	CHD9	16	53348818	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	33464992	53348818	37005935	29	29014											
TP53	7157	broad.mit.edu	37	chr17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgcggagattctctTcctctgtgcgccggtctctc	9	14	4	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7577081T>C	ENST00000269305.4	-	8	1046	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000420246.2_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000574684.1_5'Flank	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(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)	GAGATTCTCTTCCTCTGTGCG	0.562		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	large_intestine(9)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|lung(4)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|urinary_tract(3)|oesophagus(2)|ovary(2)|soft_tissue(1)|skin(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	GRCh37	CM920679	TP53	M		c.(856-858)gAa>gGa	Other conserved DNA damage response genes	tumor protein p53							95	81	86					17																	7577081		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577081T>C	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.857A>G	17.37:g.7577081T>C	ENSP00000269305:p.Glu286Gly	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)				TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286G	p.E286G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	989	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.857A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431106	0.62844	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99859	-7.24;-7.24;-7.24;-7.24;-7.24;-7.24	5.12	4.04	0.47022	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	0.99857	0.9933	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.989;0.992;0.995	D	0.97429	1.0014	10	0.87932	D	0	-23.2961	9.0226	0.36209	0.0:0.0873:0.0:0.9127	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	286;286;286;286;286;275;154	ENSP00000352610:E286G;ENSP00000269305:E286G;ENSP00000398846:E286G;ENSP00000391127:E286G;ENSP00000391478:E286G;ENSP00000425104:E154G	ENSP00000269305:E286G	E	-	2	0	TP53	7517806	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	7.447000	0.80620	0.965000	0.38133	-0.379000	0.06801	GAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		48	21	0	0	0	1	0	48	21					C	7577081	T	C	7577081	3	2	258	1	0	0	0	0	1	0	0	0	16378	1783	62	3	429	3	TP53	17	7577081	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08		7577081	73618129	30	29015											
TP53	7157	broad.mit.edu	37	chr17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaatttccttccactcggaTaagatgctgaggaggggcca	11	10	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7578266T>A	ENST00000269305.4	-	6	772	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000420246.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)	TCCACTCGGATAAGATGCTGA	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		60	Substitution - Missense(23)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - Frameshift(4)|Complex - frameshift(1)	p.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	upper_aerodigestive_tract(8)|breast(8)|large_intestine(6)|biliary_tract(5)|skin(5)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|urinary_tract(2)|liver(2)|stomach(1)|soft_tissue(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						c.(583-585)Atc>Ttc	Other conserved DNA damage response genes	tumor protein p53							99	89	92					17																	7578266		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578266T>A	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.583A>T	17.37:g.7578266T>A	ENSP00000269305:p.Ile195Phe	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)				TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F	p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	715	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.583A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493726	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99802	0.9915	M	0.85099	2.735	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.997;0.998;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.989;0.955;0.972;0.988;0.99;0.992	D	0.96806	0.9593	10	0.87932	D	0	-18.4587	13.709	0.62656	0.0:0.0:0.0:1.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195F;ENSP00000352610:I195F;ENSP00000269305:I195F;ENSP00000398846:I195F;ENSP00000391127:I195F;ENSP00000391478:I195F;ENSP00000425104:I63F;ENSP00000423862:I102F	ENSP00000269305:I195F	I	-	1	0	TP53	7518991	1.000000	0.71417	0.895000	0.35142	0.030000	0.12068	6.159000	0.71856	2.183000	0.69458	0.533000	0.62120	ATC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	44	0	0	0	1	0	4	44					A	7578266	T	A	7578266	3	1	258	1	0	0	0	0	1	0	0	0	16378	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1185	7578266	73616944	31	29016											
IFI35	3430	broad.mit.edu	37	chr17	41166236	41166236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccagaagcccacccgcGggggcggggaggtagaggcc	17	13	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:41166236G>A	ENST00000415816.2	+	7	1004	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	IFI35_ENST00000438323.2_Missense_Mutation_p.G263R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	261					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCCCACCCGCGGGGGCGGGGA	0.622																																						ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(781-783)Ggg>Agg		interferon-induced protein 35							55	55	55					17																	41166236		2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41166236G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.781G>A	17.37:g.41166236G>A	ENSP00000394579:p.Gly261Arg					IFI35_ENST00000438323.2_Missense_Mutation_p.G263R	p.G261R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	7	1004	+		Breast(137;0.00499)	261					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.781G>A		.	.	.	.	.	.	.	.	.	.	G	16.23	3.065723	0.55539	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.67345	-0.26;-0.26	5.8	4.81	0.61882	Nmi/IFP 35 (1);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	M	0.79258	2.445	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.83606	0.0131	10	0.87932	D	0	.	13.1773	0.59635	0.0:0.0:0.8403:0.1597	.	261	P80217	IN35_HUMAN	R	261;263	ENSP00000394579:G261R;ENSP00000395590:G263R	ENSP00000394579:G261R	G	+	1	0	IFI35	38419762	1.000000	0.71417	0.574000	0.28523	0.143000	0.21401	7.454000	0.80714	1.408000	0.46895	0.462000	0.41574	GGG		0.622	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		39	31	0	0	0	1	0	39	31					A	41166236	G	A	41166236	3	1	258	1	0	0	0	0	1	0	0	0	7516	1116	39	1	813	1	IFI35	17	41166236	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	33587970	41166236	40028974	32	29017											
CYP4F8	11283	broad.mit.edu	37	chr19	15734031	15734031	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactccctgtggacggcGcttccacagggcctgcagac	11	17	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:15734031G>A	ENST00000441682.2	+	0	825							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGTGGACGGCGCTTCCACAGG	0.562																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							76	77	77					19																	15734031		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734031G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734031G>A										P98187	CP4F8_HUMAN			0	825	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	13.33	2.204486	0.38905	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.2	2.06	0.26882	.	0.192171	0.33110	U	0.005280	T	0.29716	0.0742	.	.	.	0.35221	D	0.776060	B;P	0.44877	0.381;0.845	B;B	0.40940	0.219;0.344	T	0.41484	-0.9506	7	0.66056	D	0.02	.	3.8669	0.09019	0.3281:0.0:0.6719:0.0	.	67;255	B4DU85;P98187	.;CP4F8_HUMAN	H	254;67;104	.	ENSP00000314398:R67H	R	+	2	0	CYP4F8	15595031	0.969000	0.33509	0.915000	0.36163	0.008000	0.06430	3.081000	0.50120	1.607000	0.50170	0.411000	0.27672	CGC		0.562	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		46	47	0	0	0	1	0	46	47					A	15734031	G	A	15734031	1	1	258	0	1	0	0	0	0	0	0	0	4191	1087	38	1		1	CYP4F8	19	15734031	RNA	SNP	G	TCGA-HT-7611-01A-11D-2395-08		15734031	43394952	33	29018											
FCGBP	8857	broad.mit.edu	37	chr19	40366226	40366226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcggtggcggagatcaCgccgcaggcgtccgggccgc	18	15	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:40366226C>T	ENST00000221347.6	-	30	14015	c.14008G>A	c.(14008-14010)Gtg>Atg	p.V4670M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4670	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			GCGGAGATCACGCCGCAGGCG	0.726																																						ENST00000221347.6																			0				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						c.(14008-14010)Gtg>Atg		Fc fragment of IgG binding protein							21	31	27					19																	40366226		2196	4295	6491	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366226C>T	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.14008G>A	19.37:g.40366226C>T	ENSP00000221347:p.Val4670Met						p.V4670M	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14015	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4670			VWFD 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14008G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216347	0.22373	.	.	ENSG00000090920	ENST00000221347	T	0.78126	-1.15	4.32	0.939	0.19506	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.625388	0.14703	U	0.303402	T	0.74382	0.3709	L	0.46614	1.455	0.09310	N	0.999999	D	0.60575	0.988	P	0.53490	0.727	T	0.62845	-0.6768	10	0.48119	T	0.1	.	4.1735	0.10341	0.0:0.4318:0.1691:0.399	.	4670	Q9Y6R7	FCGBP_HUMAN	M	4670	ENSP00000221347:V4670M	ENSP00000221347:V4670M	V	-	1	0	FCGBP	45058066	0.000000	0.05858	0.238000	0.24106	0.428000	0.31595	-1.149000	0.03182	0.176000	0.19873	0.305000	0.20034	GTG		0.726	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	70	0	0	0	1	0	19	70					T	40366226	C	T	40366226	3	4	258	1	0	0	0	0	1	0	0	0	5778	536	19	1	2237	1	FCGBP	19	40366226	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	24632195	40366226	18762757	34	29019											
BCOR	54880	broad.mit.edu	37	chrX	39932880	39932880	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatctgcattggcattgggGgcgggtgatgcggaggctgg	19	8	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:39932880G>T	ENST00000378444.4	-	4	1947	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_ENST00000378455.4_Silent_p.A573A|BCOR_ENST00000342274.4_Silent_p.A573A|BCOR_ENST00000397354.3_Silent_p.A573A	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	573					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						TGGCATTGGGGGCGGGTGATG	0.617			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(1717-1719)gcC>gcA		BCL6 corepressor							72	62	65					X																	39932880		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932880G>T	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.1719C>A	X.37:g.39932880G>T						BCOR_ENST00000378455.4_Silent_p.A573A|BCOR_ENST00000397354.3_Silent_p.A573A|BCOR_ENST00000378444.4_Silent_p.A573A	p.A573A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2081	-			573					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1719C>A	CCDS48093.1																																																																																				0.617	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	46	1	0	0.00024832	1	0.000261623	4	46					T	39932880	G	T	39932880	2	4	258	1	0	0	0	0	0	0	0	1	1386	1219	43	4		4	BCOR	23	39932880	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39932880	115337680	35	29020											
ATRX	546	broad.mit.edu	37	chrX	76938601	76938605	+	Frame_Shift_Del	DEL	AATTT	AATTT	-													ctgattgcttagattttggcAatttattaggcttaggatta							TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:76938601_76938605delAATTT	ENST00000373344.5	-	9	2357_2361	c.2143_2147delAAATT	c.(2143-2148)aaattgfs	p.KL715fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KL677fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	715					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						AGATTTTGGCAATTTATTAGGCTTA	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2143-2148)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938601_76938605delAATTT	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.2143_2147delAAATT	X.37:g.76938601_76938605delAATTT	ENSP00000362441:p.Lys715fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KL677fs	p.KL715fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2357_2361	-			715					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2143_2147delAAATT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		25	118						25	118	---	---	---	---	-	76938605	AATTT	-	76938601	7	5	258	1	0	1	0	1	0	0	0	0	1208	131	5	0	5439	0	ATRX	23	76938601	Frame_Shift_Del	DEL	AATTT	TCGA-HT-7611-01A-11D-2395-08	37005721	76938601	78331959	36	29021											
PAFAH2	5051	broad.mit.edu	37	chr1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccagctccatgcagaAggctgaatacaaagtcctgg	12	10	0	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	ENST00000374282.3	-	5	537	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	120					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(358-360)Ttc>Ctc		platelet-activating factor acetylhydrolase 2, 40kDa							58	57	57					1																	26311003		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26311003A>G	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"platelet-activating factor acetylhydrolase 2 (40kD)"			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.358T>C	1.37:g.26311003A>G	ENSP00000363400:p.Phe120Leu					PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L|PAFAH2_ENST00000493892.1_5'UTR	p.F120L	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	5	537	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	120					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.358T>C	CCDS270.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516655	0.44763	.	.	ENSG00000158006	ENST00000374282;ENST00000374284;ENST00000439092;ENST00000441420	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000010	T	0.17534	0.0421	N	0.05078	-0.115	0.37760	D	0.926286	B	0.18013	0.025	B	0.18561	0.022	T	0.16660	-1.0395	10	0.02654	T	1	-13.7513	8.2511	0.31717	0.7138:0.0:0.0:0.2862	.	120	Q99487	PAFA2_HUMAN	L	120	ENSP00000363400:F120L;ENSP00000363402:F120L;ENSP00000408313:F120L;ENSP00000411011:F120L	ENSP00000363400:F120L	F	-	1	0	PAFAH2	26183590	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.600000	0.36762	1.937000	0.56155	0.455000	0.32223	TTC		0.522	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		17	5	0	0	0	1	0	17	5					G	26311003	A	G	26311003	3	3	259	1	0	0	0	0	1	0	0	0	11387	72	3	3	848	3	PAFAH2	1	26311003	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		26311003	222939618	1	29022											
CACHD1	57685	broad.mit.edu	37	chr1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgaaacctgcgactctcTtgccttctgtgcctgcagca	8	15	2	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	ENST00000371073.2	+	20	2837	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P			Q5VU97	CAHD1_HUMAN	cache domain containing 1	946	Cys-rich.				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						TGCGACTCTCTTGCCTTCTGT	0.478											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371073.2																			0				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						c.(2836-2838)cTt>cCt		cache domain containing 1							238	207	218					1																	65141193		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65141193T>C	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.2837T>C	1.37:g.65141193T>C	ENSP00000360113:p.Leu946Pro		OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1081	CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P|CACHD1_ENST00000495994.1_3'UTR	p.L946P			Q5VU97	CAHD1_HUMAN			20	2837	+			946			Cys-rich.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2837T>C		.	.	.	.	.	.	.	.	.	.	T	22.7	4.323834	0.81580	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24908	1.83;1.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.39898	1.24	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.02893	-1.1097	10	0.35671	T	0.21	-17.4966	16.2194	0.82247	0.0:0.0:0.0:1.0	.	946	Q5VU97	CAHD1_HUMAN	P	946;895	ENSP00000360113:L946P;ENSP00000290039:L895P	ENSP00000290039:L895P	L	+	2	0	CACHD1	64913781	1.000000	0.71417	0.996000	0.52242	0.782000	0.44232	7.665000	0.83852	2.234000	0.73211	0.528000	0.53228	CTT		0.478	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	133	0	0	0	1	0	5	133					C	65141193	T	C	65141193	3	2	259	1	0	0	0	0	1	0	0	0	2537	1609	56	3	2762	3	CACHD1	1	65141193	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	38830190	65141193	184109428	2	29023											
FUBP1	8880	broad.mit.edu	37	chr1	78432569	78432570	+	Splice_Site	INS	-	-	G													atgagaatgtaacattaccaINSggagctatctgtattttgca							TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	ENST00000370768.2	-	6	494_495	c.413_414insC	c.(412-414)cct>ccCt	p.P138fs	FUBP1_ENST00000436586.2_Splice_Site_p.P159fs|FUBP1_ENST00000370767.1_Splice_Site_p.P138fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	138	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e6+1		far upstream element (FUSE) binding protein 1																																				SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432569_78432570insG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.415+1->C	1.37:g.78432571_78432571dupG						FUBP1_ENST00000436586.2_Splice_Site_p.R159_splice|FUBP1_ENST00000370768.2_Splice_Site_p.R138_splice	p.R138_splice			Q96AE4	FUBP1_HUMAN			6	500_501	-			138			KH 1.		Q12828	Splice_Site	INS	ENST00000370768.2	37	c.415_splice	CCDS683.1																																																																																				0.312	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Frame_Shift_Ins	30	42						30	42	---	---	---	---	G	78432570	-	G	78432569	8	5	259	1	0	1	1	0	0	0	1	0	6092	202	7	0	1580	0	FUBP1	1	78432569	Splice_Site	INS	-	TCGA-HT-7616-01A-11D-2253-08	13291376	78432569	170818052	3	29024											
ELTD1	64123	broad.mit.edu	37	chr1	79470843	79470843	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atttcacattttgcatttggGagacaaggtgtcttggtgca	11	6	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	ENST00000370742.3	-	2	147	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	28	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		TTGCATTTGGGAGACAAGGTG	0.343																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(82-84)ctC>ctG		EGF, latrophilin and seven transmembrane domain containing 1							115	101	106					1																	79470843		1846	4096	5942	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470843G>C	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.84C>G	1.37:g.79470843G>C							p.L28L	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	147	-			28			EGF-like 1.		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.84C>G	CCDS41352.1																																																																																				0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		49	17	0	0	0	1	0	49	17					C	79470843	G	C	79470843	2	2	259	1	0	0	0	0	0	0	0	1	5084	1161	41	4		4	ELTD1	1	79470843	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1038274	79470843	169779778	4	29025											
SLC44A3	126969	broad.mit.edu	37	chr1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtgcgtgctggggtttGctatcgtatccacaggcatc	13	9	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	ENST00000271227.6	+	8	964	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	288					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(862-864)Gct>Act		solute carrier family 44, member 3	Choline(DB00122)						156	154	154					1																	95307657		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95307657G>A	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.862G>A	1.37:g.95307657G>A	ENSP00000271227:p.Ala288Thr					SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T	p.A288T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	8	964	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	288					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.862G>A	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067782	0.93950	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.97	3.96	0.45880	.	0.086147	0.50627	D	0.000109	T	0.39937	0.1097	M	0.76170	2.325	0.41246	D	0.986679	D;D;D;D;D	0.67145	0.984;0.996;0.984;0.995;0.984	P;D;P;D;P	0.70487	0.85;0.969;0.85;0.927;0.85	T	0.43572	-0.9383	10	0.59425	D	0.04	-16.0188	14.2092	0.65753	0.0:0.0:0.6295:0.3705	.	208;252;220;256;288	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	T	252;288;220;256;240;208	ENSP00000389143:A252T;ENSP00000271227:A288T;ENSP00000433641:A220T;ENSP00000431836:A256T;ENSP00000432789:A240T;ENSP00000436661:A208T	ENSP00000271227:A288T	A	+	1	0	SLC44A3	95080245	1.000000	0.71417	0.864000	0.33941	0.460000	0.32559	3.785000	0.55424	1.493000	0.48517	0.655000	0.94253	GCT		0.448	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		12	68	0	0	0	1	0	12	68					A	95307657	G	A	95307657	3	1	259	1	0	0	0	0	1	0	0	0	14637	1319	46	2	892	2	SLC44A3	1	95307657	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	15836814	95307657	153942964	5	29026											
FCRL5	83416	broad.mit.edu	37	chr1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtatttctttcccaaggTaccgatggtaccattttgtt	7	8	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	ENST00000361835.3	-	3	339	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	61	Ig-like C2-type 1.				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)				TTTCCCAAGGTACCGATGGTA	0.502																																						ENST00000361835.3																			0				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						c.(181-183)tAc>tGc		Fc receptor-like 5							134	130	131					1																	157516858		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516858T>C	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.182A>G	1.37:g.157516858T>C	ENSP00000354691:p.Tyr61Cys					FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C	p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	339	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	61			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.182A>G	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285213	0.40394	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.46451	0.87;0.88;0.87;1.16;3.99	3.62	3.62	0.41486	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51058	0.1652	M	0.84511	2.7	0.09310	N	1	D;D;D;D	0.76494	0.998;0.997;0.999;0.998	D;D;D;D	0.69142	0.936;0.962;0.927;0.962	T	0.36187	-0.9758	9	0.39692	T	0.17	.	8.9039	0.35512	0.0:0.0:0.0:1.0	.	61;61;61;61	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	C	61	ENSP00000354691:Y61C;ENSP00000349434:Y61C;ENSP00000357173:Y61C;ENSP00000357172:Y61C;ENSP00000357171:Y61C	ENSP00000349434:Y61C	Y	-	2	0	FCRL5	155783482	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.412000	0.21131	1.884000	0.54569	0.528000	0.53228	TAC		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		29	68	0	0	0	1	0	29	68					C	157516858	T	C	157516858	3	2	259	1	0	0	0	0	1	0	0	0	5798	1638	57	3	2811	3	FCRL5	1	157516858	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	62209201	157516858	91733763	6	29027											
SOAT1	6646	broad.mit.edu	37	chr1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttaggtgtgctgatTctcttccttactttttttgc	6	7	1	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	ENST00000367619.3	+	12	1271	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	376					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1126-1128)atT>atG		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						232	206	215					1																	179316745		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179316745T>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1128T>G	1.37:g.179316745T>G	ENSP00000356591:p.Ile376Met					SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M	p.I376M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			12	1271	+			376					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1128T>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	T	5.311	0.242709	0.10077	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.81	-11.6	0.00059	.	0.585786	0.18813	N	0.130449	T	0.36386	0.0965	N	0.16903	0.455	0.21499	N	0.999662	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.31833	-0.9929	10	0.11485	T	0.65	-12.3343	4.4266	0.11505	0.1634:0.1304:0.4432:0.263	.	318;376	A8K3P4;P35610	.;SOAT1_HUMAN	M	311;318;112;376	ENSP00000441356:I311M;ENSP00000445315:I318M;ENSP00000442503:I112M;ENSP00000356591:I376M	ENSP00000356591:I376M	I	+	3	3	SOAT1	177583368	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-1.871000	0.01640	-3.201000	0.00217	0.482000	0.46254	ATT		0.348	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		6	65	0	0	0	1	0	6	65					G	179316745	T	G	179316745	3	3	259	1	0	0	0	0	1	0	0	0	14910	1771	62	5	1170	5	SOAT1	1	179316745	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	21799887	179316745	69933876	7	29028											
RYR2	6262	broad.mit.edu	37	chr1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggaacacagccgagaGtacaagcaagaaagaactta	10	7	0	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	ENST00000366574.2	+	22	2834	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	839					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)			ACAGCCGAGAGTACAAGCAAG	0.507																																						ENST00000366574.2																			0				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						c.(2515-2517)gaG>gaT		ryanodine receptor 2 (cardiac)							120	123	122					1																	237666709		2007	4165	6172	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666709G>T	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.2517G>T	1.37:g.237666709G>T	ENSP00000355533:p.Glu839Asp					RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	p.E839D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2834	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	839					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2517G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489059	0.44249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.1;-4.12	5.62	2.33	0.28932	.	0.000000	0.51477	D	0.000088	D	0.92482	0.7613	L	0.46157	1.445	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	D	0.87427	0.2386	10	0.42905	T	0.14	.	7.8072	0.29209	0.5703:0.0:0.4297:0.0	.	839	Q92736	RYR2_HUMAN	D	839;837;823	ENSP00000355533:E839D;ENSP00000353174:E837D;ENSP00000443798:E823D	ENSP00000353174:E837D	E	+	3	2	RYR2	235733332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.639000	0.24690	0.601000	0.29879	0.650000	0.86243	GAG		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	69	1	0	2.35188e-11	1	2.66781e-11	16	69					T	237666709	G	T	237666709	3	4	259	1	0	0	0	0	1	0	0	0	13769	1020	36	4	2603	4	RYR2	1	237666709	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	58349964	237666709	11583912	8	29029											
SF3B14	9540	broad.mit.edu	37	chr2	24299092	24299092	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctcttggccgcttgcAtcgccatcttggcgggctga	12	15	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:24299092A>T	ENST00000238721.4	-	0	1998				SF3B14_ENST00000233468.4_Missense_Mutation_p.M3K	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3						NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCTTGCATCGCCATCTT	0.567																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(7-9)aTg>aAg									141	129	133					2																	24299092		2203	4300	6503	SO:0001628	intergenic_variant	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24299092A>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817		2.37:g.24299092A>T							p.M3K	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			1	221	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.8T>A	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767295	0.69878	.	.	ENSG00000115128	ENST00000233468	T	0.30714	1.52	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	L	0.44542	1.39	0.80722	D	1	B	0.31026	0.304	B	0.26310	0.068	T	0.10382	-1.0632	10	0.59425	D	0.04	0.7596	13.0279	0.58825	1.0:0.0:0.0:0.0	.	3	Q9Y3B4	PM14_HUMAN	K	3	ENSP00000233468:M3K	ENSP00000233468:M3K	M	-	2	0	AC008073.5	24152596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.205000	0.89743	1.966000	0.57179	0.459000	0.35465	ATG		0.567	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		61	142	0	0	0	1	0	61	142					T	24299092	A	T	24299092	1	4	259	0	1	0	0	0	0	0	0	0	14150	217	8	5		5	SF3B14	2	24299092	IGR	SNP	A	TCGA-HT-7616-01A-11D-2253-08		24299092	218900281	9	29030											
C2orf28	51374	broad.mit.edu	37	chr2	27438348	27438348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtactttgcagagacctGcaagcaaaccccctcaaagg	9	12	1	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27438348G>A	ENST00000606999.1	+	4	358	c.300G>A	c.(298-300)ctG>ctA	p.L100L	ATRAID_ENST00000405489.3_Silent_p.L42L|CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000380171.3_Silent_p.L155L|CAD_ENST00000403525.1_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	100					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)											GCAGAGACCTGCAAGCAAACC	0.468																																						ENST00000380171.3																			0											c.(463-465)ctG>ctA		all-trans retinoic acid-induced differentiation factor							110	103	105					2																	27438348		2203	4300	6503	SO:0001819	synonymous_variant	51374							g.chr2:27438348G>A	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.300G>A	2.37:g.27438348G>A						ATRAID_ENST00000606999.1_Silent_p.L100L|ATRAID_ENST00000405489.3_Silent_p.L42L	p.L155L	NM_080592.3	NP_542159.3					4	642	+								A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Silent	SNP	ENST00000606999.1	37	c.465G>A																																																																																					0.468	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		44	78	0	0	0	1	0	44	78					A	27438348	G	A	27438348	2	1	259	1	0	0	0	0	0	0	0	1	2160	1306	46	2		2	C2orf28	2	27438348	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	3139256	27438348	215761025	10	29031											
TRIM54	57159	broad.mit.edu	37	chr2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaaatgtgccaacgacGtcttccaggtgggtgccagg	14	12	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	ENST00000380075.2	+	1	500	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000296098.4_Missense_Mutation_p.V54I	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(160-162)Gtc>Atc		tripartite motif containing 54							177	156	163					2																	27505759		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505759G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.160G>A	2.37:g.27505759G>A	ENSP00000369415:p.Val54Ile					TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		54					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.160G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491292	0.12702	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.072630	0.64402	D	0.000018	T	0.09158	0.0226	N	0.10972	0.075	0.58432	D	0.999997	B;B	0.18013	0.003;0.025	B;B	0.15870	0.009;0.014	T	0.08371	-1.0725	10	0.02654	T	1	-26.3073	16.858	0.86010	0.0:0.0:1.0:0.0	.	54;54	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	I	54	ENSP00000369415:V54I;ENSP00000296098:V54I	ENSP00000296098:V54I	V	+	1	0	TRIM54	27359263	0.116000	0.22171	0.997000	0.53966	0.939000	0.58152	0.567000	0.23608	2.568000	0.86640	0.462000	0.41574	GTC		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		112	191	0	0	0	1	0	112	191					A	27505759	G	A	27505759	3	1	259	1	0	0	0	0	1	0	0	0	16525	1145	40	1	162	1	TRIM54	2	27505759	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	67411	27505759	215693614	11	29032											
DCAF17	80067	broad.mit.edu	37	chr2	172337525	172337525	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagagacttggtgctAcacatagagcagaaacccaa	9	9	0	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	ENST00000375255.3	+	14	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	488					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(1462-1464)ctA>ctC		DDB1 and CUL4 associated factor 17							127	123	125					2																	172337525		2203	4300	6503	SO:0001819	synonymous_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172337525A>C	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1464A>C	2.37:g.172337525A>C						DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	p.L488L	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			14	1791	+			488					B2RTW5|Q53TN3|Q9H908	Silent	SNP	ENST00000375255.3	37	c.1464A>C	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	7.332	0.619088	0.14129	.	.	ENSG00000115827	ENST00000339506;ENST00000431110	.	.	.	5.74	-6.99	0.01605	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42632	-0.9440	4	.	.	.	-7.4801	4.2874	0.10862	0.2381:0.2794:0.3906:0.0919	.	.	.	.	S	239;190	.	.	Y	+	2	0	DCAF17	172045771	0.000000	0.05858	0.829000	0.32907	0.674000	0.39518	-1.894000	0.01607	-1.217000	0.02604	-1.091000	0.02175	TAC		0.398	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		6	142	0	0	0	1	0	6	142					C	172337525	A	C	172337525	2	2	259	1	0	0	0	0	0	0	0	1	4269	378	14	5		5	DCAF17	2	172337525	Silent	SNP	A	TCGA-HT-7616-01A-11D-2253-08	144831766	172337525	70861848	12	29033											
TTN	7273	broad.mit.edu	37	chr2	179455636	179455636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtttaccaggaggagaCggaggactaaatttatgctt	12	6	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	ENST00000591111.1	-	254	56117	c.55893G>A	c.(55891-55893)ccG>ccA	p.P18631P	TTN_ENST00000359218.5_Silent_p.P11332P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN_ENST00000342992.6_Silent_p.P17704P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P20272P			Q8WZ42	TITIN_HUMAN	titin	18631	Fibronectin type-III 34. {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)			CAGGAGGAGACGGAGGACTAA	0.458																																						ENST00000589042.1																			0				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						c.(60814-60816)ccG>ccA		titin							128	127	127					2																	179455636		1904	4113	6017	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455636C>T	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.55893G>A	2.37:g.179455636C>T						TTN_ENST00000342992.6_Silent_p.P17704P|TTN_ENST00000359218.5_Silent_p.P11332P|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P18631P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA	p.P20272P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61040	-			18631			Ig-like 111.		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	ENST00000591111.1	37	c.60816G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	103	0	0	0	1	0	46	103					T	179455636	C	T	179455636	2	4	259	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179455636	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	7118111	179455636	63743737	13	29034											
TTN	7273	broad.mit.edu	37	chr2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagtactgagattgttcatCtgtatgacggccactgagtc	10	9	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	ENST00000591111.1	-	67	19451	c.19227G>C	c.(19225-19227)caG>caC	p.Q6409H	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6726H			Q8WZ42	TITIN_HUMAN	titin	13180	Ig-like 45.				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)			GATTGTTCATCTGTATGACGG	0.448																																						ENST00000589042.1																			0				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						c.(20176-20178)caG>caC		titin							113	106	108					2																	179591914		1913	4145	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591914C>G	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.19227G>C	2.37:g.179591914C>G	ENSP00000465570:p.Gln6409His					TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6409H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.Q6726H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	20402	-			6409					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	ENST00000591111.1	37	c.20178G>C		.	.	.	.	.	.	.	.	.	.	C	8.167	0.790863	0.16258	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	6.03	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65729	0.2719	L	0.35644	1.08	0.80722	D	1	D	0.54397	0.966	P	0.55161	0.77	T	0.68580	-0.5371	9	0.87932	D	0	.	7.1437	0.25570	0.0:0.7221:0.0:0.2779	.	6409	Q8WZ42	TITIN_HUMAN	H	5482	ENSP00000343764:Q5482H	ENSP00000343764:Q5482H	Q	-	3	2	TTN	179300159	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.394000	0.34509	1.558000	0.49541	0.655000	0.94253	CAG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	60	0	0	0	1	0	21	60					G	179591914	C	G	179591914	3	3	259	1	0	0	0	0	1	0	0	0	16732	912	32	4	84527	4	TTN	2	179591914	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	136278	179591914	63607459	14	29035											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			48	69	0	0	0	1	0	48	69					T	209113112	C	T	209113112	3	4	259	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	29521198	209113112	34086261	15	29036											
UCN2	90226	broad.mit.edu	37	chr3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggagaattctgagggcGgagctggaaggttgggatag	20	4	1	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	ENST00000273610.3	-	2	173	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	PFKFB4_ENST00000536104.1_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632																																						ENST00000273610.3																			0											c.(91-93)Cgc>Tgc		urocortin 2							43	42	43					3																	48600467		2203	4300	6503	SO:0001583	missense	90226				cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding	g.chr3:48600467G>A	AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"Endogenous ligands"	18414	protein-coding gene	gene with protein product	"prepro-urocortin 2"	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.91C>T	3.37:g.48600467G>A	ENSP00000273610:p.Arg31Cys						p.R31C	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	173	-			31					Q9BUG0	Missense_Mutation	SNP	ENST00000273610.3	37	c.91C>T	CCDS2772.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361816	0.24684	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-5.37	0.02681	.	1.516670	0.04388	N	0.361943	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25710	-1.0124	9	0.45353	T	0.12	-14.0371	8.6603	0.34088	0.653:0.0:0.2301:0.1169	.	31	Q96RP3	UCN2_HUMAN	C	31	.	ENSP00000273610:R31C	R	-	1	0	UCN2	48575471	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.633000	0.05483	-1.124000	0.02936	-0.734000	0.03567	CGC		0.632	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257510.1	NM_033199		3	19	0	0	0	1	0	3	19					A	48600467	G	A	48600467	3	1	259	1	0	0	0	0	1	0	0	0	16925	1116	39	1	251	1	UCN2	3	48600467	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		48600467	149421963	16	29037											
NT5DC2	64943	broad.mit.edu	37	chr3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccacatcgaagagctggCgccaatcgggacccaccatg	11	14	0	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	ENST00000307076.4	-	9	1263	c.863G>T	c.(862-864)cGc>cTc	p.R288L	NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	288							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(862-864)cGc>cTc		5'-nucleotidase domain containing 2							82	64	70					3																	52561696		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52561696C>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.863G>T	3.37:g.52561696C>A	ENSP00000302468:p.Arg288Leu					NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L	p.R288L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	9	1263	-			288					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.863G>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716799	0.89205	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.64	4.64	0.57946	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.84683	2.71	0.80722	D	1	D;P;P	0.55385	0.971;0.712;0.815	P;P;P	0.61328	0.887;0.626;0.734	T	0.67707	-0.5601	10	0.72032	D	0.01	-17.4989	17.5579	0.87897	0.0:1.0:0.0:0.0	.	300;288;325	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	L	229;2;288;325;300	ENSP00000306017:R229L;ENSP00000418780:R2L;ENSP00000302468:R288L;ENSP00000406933:R325L;ENSP00000419547:R300L	ENSP00000302468:R288L	R	-	2	0	NT5DC2	52536736	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.794000	0.85869	2.125000	0.65367	0.306000	0.20318	CGC		0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		3	80	1	0	0.150653	1	0.150653	3	80					A	52561696	C	A	52561696	3	1	259	1	0	0	0	0	1	0	0	0	10691	768	27	4	723	4	NT5DC2	3	52561696	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3961229	52561696	145460734	17	29038											
CEP97	79598	broad.mit.edu	37	chr3	101446274	101446274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgatgggtgtggccaaGctgacgttgcttcgtgtatt	15	7	0	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	ENST00000341893.3	+	3	986	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_ENST00000494050.1_Silent_p.K78K|CEP97_ENST00000327230.4_Silent_p.K78K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	78					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(232-234)aaG>aaA		centrosomal protein 97kDa							156	154	155					3																	101446274		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101446274G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.234G>A	3.37:g.101446274G>A						CEP97_ENST00000327230.4_Silent_p.K78K|CEP97_ENST00000494050.1_Silent_p.K78K	p.K78K			Q8IW35	CEP97_HUMAN			3	986	+			78					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.234G>A	CCDS2944.1																																																																																				0.373	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		5	160	0	0	0	1	0	5	160					A	101446274	G	A	101446274	2	1	259	1	0	0	0	0	0	0	0	1	3263	962	34	2		2	CEP97	3	101446274	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	48884578	101446274	96576156	18	29039											
CMYA5	202333	broad.mit.edu	37	chr5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagttgatctccaaatatgCagccccactcaatgcaacac	5	13	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	ENST00000446378.2	+	2	2436	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	802					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)		TCCAAATATGCAGCCCCACTC	0.443																																						ENST00000446378.2																			0				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						c.(2404-2406)gCa>gTa		cardiomyopathy associated 5							81	78	79					5																	79026993		1961	4168	6129	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026993C>T	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.2405C>T	5.37:g.79026993C>T	ENSP00000394770:p.Ala802Val						p.A802V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2436	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	802					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2405C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202390	0.38905	.	.	ENSG00000164309	ENST00000446378	T	0.43294	0.95	5.41	2.58	0.30949	.	0.929586	0.08998	N	0.863482	T	0.38134	0.1029	M	0.65975	2.015	0.09310	N	0.999999	P	0.39831	0.69	B	0.32677	0.15	T	0.27872	-1.0061	10	0.87932	D	0	.	7.4209	0.27071	0.0:0.7129:0.0:0.2871	.	802	Q8N3K9	CMYA5_HUMAN	V	802	ENSP00000394770:A802V	ENSP00000394770:A802V	A	+	2	0	CMYA5	79062749	0.001000	0.12720	0.113000	0.21522	0.006000	0.05464	0.260000	0.18424	0.315000	0.23110	0.650000	0.86243	GCA		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		32	71	0	0	0	1	0	32	71					T	79026993	C	T	79026993	3	4	259	1	0	0	0	0	1	0	0	0	3590	710	25	2	2411	2	CMYA5	5	79026993	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		79026993	101888267	19	29040											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718979	140718979	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcagtgaaaccactacGccaggattccggattcctct	7	12	2	1	rs200844226		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	ENST00000394576.2	+	1	441	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	147	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)			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)			AAACCACTACGCCAGGATTCC	0.458																																						ENST00000394576.2																			0				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						c.(439-441)acG>acT									69	70	70					5																	140718979		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140718979G>T	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.441G>T	5.37:g.140718979G>T						PCDHGA1_ENST00000517417.1_Intron	p.T147T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	441	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.441G>T	CCDS47289.1																																																																																				0.458	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		5	112	1	0	0.0293803	1	0.0301744	5	112					T	140718979	G	T	140718979	2	4	259	1	0	0	0	0	0	0	0	1	11554	1074	38	4		4	PCDHGA2	5	140718979	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	61691986	140718979	40196281	20	29041											
F13A1	2162	broad.mit.edu	37	chr6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctgggtttcgactggttCgaagtacgccatagggagtc	13	8	1	0	rs376147795		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	ENST00000264870.3	-	4	780	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					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)	p.R172Q(1)		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)	TCGACTGGTTCGAAGTACGCC	0.458																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R172Q(1)	central_nervous_system(1)	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						c.(514-516)cGa>cAa		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139	126	131		515	5.7	0.9	6		131	0,8600		0,0,4300	no	missense	F13A1	NM_000129.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	172/733	6266847	1,13005	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266847C>T	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.515G>A	6.37:g.6266847C>T	ENSP00000264870:p.Arg172Gln						p.R172Q	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	780	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	172					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.515G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593713	0.46214	2.27E-4	0.0	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.81996	-1.56	5.65	5.65	0.86999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.200049	0.40144	N	0.001178	D	0.85106	0.5621	L	0.55213	1.73	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80353	-0.1418	10	0.10377	T	0.69	.	18.7279	0.91722	0.0:1.0:0.0:0.0	.	109;172	F5H080;P00488	.;F13A_HUMAN	Q	172;109	ENSP00000264870:R172Q	ENSP00000264870:R172Q	R	-	2	0	F13A1	6211846	0.998000	0.40836	0.940000	0.37924	0.150000	0.21749	6.460000	0.73518	2.660000	0.90430	0.655000	0.94253	CGA		0.458	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		64	118	0	0	0	1	0	64	118					T	6266847	C	T	6266847	3	4	259	1	0	0	0	0	1	0	0	0	5340	884	31	1	1731	1	F13A1	6	6266847	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		6266847	164848220	21	29042											
MSH5	4439	broad.mit.edu	37	chr6	31708253	31708253	+	Frame_Shift_Del	DEL	T	T	-													cctccaagctcatggcctccTtaggagcgaacccaaggagg							TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:31708253delT	ENST00000375755.3	+	2	296	c.10delT	c.(10-12)ttafs	p.L4fs	MSH5_ENST00000375742.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375750.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375740.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000534153.4_Frame_Shift_Del_p.L4fs|MSH5-SAPCD1_ENST00000493662.2_Frame_Shift_Del_p.L4fs|CLIC1_ENST00000395892.1_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	4					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CATGGCCTCCTTAGGAGCGAA	0.682								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(10-12)tafs									13	13	13					6																	31708253		2176	4275	6451	SO:0001589	frameshift_variant	0							g.chr6:31708253delT	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.10delT	6.37:g.31708253delT	ENSP00000364908:p.Leu4fs					MSH5_ENST00000375755.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375740.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375703.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000534153.4_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375742.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375750.3_Frame_Shift_Del_p.L4fs	p.L4fs							2	66	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Frame_Shift_Del	DEL	ENST00000375755.3	37	c.10delT	CCDS4720.1																																																																																				0.682	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			2	4						2	4	---	---	---	---	-	31708253	T	-	31708253	7	5	259	1	0	1	0	1	0	0	0	0	9873	1606	56	0	12	0	MSH5	6	31708253	Frame_Shift_Del	DEL	T	TCGA-HT-7616-01A-11D-2253-08	25441406	31708253	139406814	22	29043											
STX11	8676	broad.mit.edu	37	chr6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaccagctgctggtggccGacgtgaagcggctgggaaag	16	9	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	ENST00000367568.4	+	2	364	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	61				D -> N (in Ref. 1; AAD02107). {ECO:0000305}.	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)		GCTGGTGGCCGACGTGAAGCG	0.612									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(181-183)Gac>Aac		syntaxin 11							37	34	35					6																	144507945		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507945G>A	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.181G>A	6.37:g.144507945G>A	ENSP00000356540:p.Asp61Asn						p.D61N	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	364	+			61	D -> N (in Ref. 1; AAD02107).				E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.181G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324072	0.60634	.	.	ENSG00000135604	ENST00000367568	T	0.15017	2.46	5.99	5.11	0.69529	t-SNARE (1);Syntaxin, N-terminal (2);	0.046366	0.85682	D	0.000000	T	0.09949	0.0244	M	0.73217	2.22	0.52099	D	0.999948	P	0.47191	0.891	B	0.37508	0.252	T	0.11348	-1.0591	10	0.17832	T	0.49	-39.0566	16.257	0.82522	0.0:0.0:0.866:0.134	.	61	O75558	STX11_HUMAN	N	61	ENSP00000356540:D61N	ENSP00000356540:D61N	D	+	1	0	STX11	144549638	1.000000	0.71417	0.964000	0.40570	0.004000	0.04260	7.464000	0.80887	1.520000	0.48965	-0.181000	0.13052	GAC		0.612	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			9	21	0	0	0	1	0	9	21					A	144507945	G	A	144507945	3	1	259	1	0	0	0	0	1	0	0	0	15336	1058	37	1	183	1	STX11	6	144507945	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	112799692	144507945	26607122	23	29044											
SHPRH	257218	broad.mit.edu	37	chr6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggatggactgcgtttcttGctgatgtgtttgtttcacaa	11	6	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	ENST00000367505.2	-	4	1120	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.Q286*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	286					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(856-858)Caa>Taa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							249	252	251					6																	146271526		2038	4183	6221	SO:0001587	stop_gained	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146271526G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.856C>T	6.37:g.146271526G>A	ENSP00000356475:p.Gln286*					SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000367505.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*	p.Q286*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	4	1254	-		Ovarian(120;0.0365)	286					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	c.856C>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	40	8.316436	0.98757	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	.	.	.	5.95	5.08	0.68730	.	0.172268	0.40144	N	0.001178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.5939	12.8008	0.57584	0.0:0.1255:0.744:0.1305	.	.	.	.	X	286;286;286;286;175	.	ENSP00000275233:Q286X	Q	-	1	0	SHPRH	146313219	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.302000	0.51849	1.511000	0.48818	0.650000	0.86243	CAA		0.468	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		62	147	0	0	0	1	0	62	147					A	146271526	G	A	146271526	4	1	259	1	0	0	0	0	0	1	0	0	14291	1328	46	2	4347	2	SHPRH	6	146271526	Nonsense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1763581	146271526	24843541	24	29045											
TULP4	56995	broad.mit.edu	37	chr6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgacccggaggtgggcGgcccgtgctacacgctctac	15	14	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	ENST00000367097.3	+	8	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	455					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1363-1365)Ggc>Agc		tubby like protein 4							54	58	57					6																	158902198		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158902198G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1363G>A	6.37:g.158902198G>A	ENSP00000356064:p.Gly455Ser					TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2720	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	455					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1363G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086421	0.76642	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61742	0.08;0.08	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.053822	0.64402	D	0.000001	T	0.33702	0.0872	L	0.40543	1.245	0.80722	D	1	P;B;P	0.43662	0.597;0.436;0.814	B;B;B	0.31547	0.035;0.077;0.132	T	0.30475	-0.9977	10	0.35671	T	0.21	-34.8182	18.9788	0.92747	0.0:0.0:1.0:0.0	.	455;455;455	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	S	455	ENSP00000356064:G455S;ENSP00000356061:G455S	ENSP00000356061:G455S	G	+	1	0	TULP4	158822186	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.222000	0.72249	2.491000	0.84063	0.561000	0.74099	GGC		0.617	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	65	0	0	0	1	0	3	65					A	158902198	G	A	158902198	3	1	259	1	0	0	0	0	1	0	0	0	16773	1116	39	1	1393	1	TULP4	6	158902198	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12630672	158902198	12212869	25	29046											
FNDC1	84624	broad.mit.edu	37	chr6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggcatgtgaaacTgctgtccactaaaatgggcc	11	10	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	ENST00000297267.9	+	2	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	48	Fibronectin type-III 1. {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)				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)		CATGTGAAACTGCTGTCCACT	0.453																																						ENST00000297267.9																			0				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						c.(142-144)cTg>cCg		fibronectin type III domain containing 1							156	146	150					6																	159618496		1960	4147	6107	SO:0001583	missense	84624					extracellular region		g.chr6:159618496T>C	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.143T>C	6.37:g.159618496T>C	ENSP00000297267:p.Leu48Pro					FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	2	343	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	48			Fibronectin type-III 1.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.143T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143678	0.57044	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.58940	0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.31358	N	0.007800	T	0.54159	0.1841	N	0.19112	0.55	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.64407	-0.6415	10	0.87932	D	0	-17.4006	13.214	0.59844	0.0:0.0:0.0:1.0	.	48	Q4ZHG4	FNDC1_HUMAN	P	48	ENSP00000297267:L48P;ENSP00000342460:L48P	ENSP00000297267:L48P	L	+	2	0	FNDC1	159538484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.000000	0.63940	2.371000	0.80710	0.533000	0.62120	CTG		0.453	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		60	144	0	0	0	1	0	60	144					C	159618496	T	C	159618496	3	2	259	1	0	0	0	0	1	0	0	0	5968	1580	55	3	149	3	FNDC1	6	159618496	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	716298	159618496	11496571	26	29047											
ABCA13	154664	broad.mit.edu	37	chr7	48556330	48556330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttcagatatgcaacTcttccatggatgtacctgat	6	9	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	ENST00000435803.1	+	52	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_ENST00000544596.1_Silent_p.T280T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4550					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T4495T(1)|p.T4550T(1)		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						GATATGCAACTCTTCCATGGA	0.378																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.T4495T(1)|p.T4550T(1)	kidney(2)	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						c.(13648-13650)acT>acC		ATP-binding cassette, sub-family A (ABC1), member 13							259	253	255					7																	48556330		1883	4105	5988	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556330T>C	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.13650T>C	7.37:g.48556330T>C						ABCA13_ENST00000544596.1_Silent_p.T280T	p.T4550T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			52	13674	+			4550					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.13650T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	8.385	0.838327	0.16891	.	.	ENSG00000179869	ENST00000435451	.	.	.	5.35	-3.32	0.04973	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.42316	D	0.992231	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	0.6793	0.00872	0.2164:0.1906:0.3374:0.2555	.	.	.	.	P	71	.	.	S	+	1	0	ABCA13	48526876	0.023000	0.18921	0.032000	0.17829	0.940000	0.58332	-1.017000	0.03630	-0.506000	0.06558	0.533000	0.62120	TCT		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	228	0	0	0	1	0	5	228					C	48556330	T	C	48556330	2	2	259	1	0	0	0	0	0	0	0	1	31	1538	54	3		3	ABCA13	7	48556330	Silent	SNP	T	TCGA-HT-7616-01A-11D-2253-08		48556330	110582333	27	29048											
SLC26A5	375611	broad.mit.edu	37	chr7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaaagaccactcactgCtttgacaacagttgcgttgg	9	9	1	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	ENST00000306312.3	-	17	2044	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	595	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1783-1785)Gca>Cca		solute carrier family 26 (anion exchanger), member 5							222	179	194					7																	103018895		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103018895C>G	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1783G>C	7.37:g.103018895C>G	ENSP00000304783:p.Ala595Pro					SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	p.A595P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			17	2044	-			595			STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1783G>C	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748528	0.15710	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.95756	-3.2;-3.23;-3.21;-3.21;-3.8;-3.16;-3.22;-3.22	5.53	4.63	0.57726	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.708276	0.11950	U	0.513820	D	0.92061	0.7484	L	0.39898	1.24	0.09310	N	1	B;P;B	0.35456	0.0;0.502;0.108	B;B;B	0.37550	0.009;0.253;0.122	D	0.84366	0.0541	10	0.28530	T	0.3	.	8.3977	0.32568	0.0:0.6227:0.298:0.0793	.	595;563;595	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	P	595;595;563;563;28;558;595;563	ENSP00000342396:A595P;ENSP00000304783:A595P;ENSP00000377331:A563P;ENSP00000389733:A563P;ENSP00000346325:A28P;ENSP00000377330:A558P;ENSP00000377328:A595P;ENSP00000377324:A563P	ENSP00000304783:A595P	A	-	1	0	SLC26A5	102806131	0.272000	0.24172	0.338000	0.25549	0.278000	0.26855	1.274000	0.33132	1.441000	0.47550	0.644000	0.83932	GCA		0.448	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		13	115	0	0	0	1	0	13	115					G	103018895	C	G	103018895	3	3	259	1	0	0	0	0	1	0	0	0	14520	797	28	4	508	4	SLC26A5	7	103018895	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	54462565	103018895	56119768	28	29049			1	27		2	2	17	N	G_C	3.307787e-05
SLC26A5	375611	broad.mit.edu	37	chr7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgctttgacaacagttgcGttggccatatttgcatttcc	8	10	0	1	rs375613469		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	ENST00000306312.3	-	17	2028	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	589	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1765-1767)aaC>aaA		solute carrier family 26 (anion exchanger), member 5							257	204	222					7																	103018911		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103018911G>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"Solute carriers"	9359	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	604943	"prestin (motor protein)"	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1767C>A	7.37:g.103018911G>T	ENSP00000304783:p.Asn589Lys					SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	p.N589K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			17	2028	-			589			STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1767C>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217436	0.22373	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.95205	-3.09;-3.14;-3.14;-3.14;-3.64;-3.06;-3.08;-3.02	5.53	-8.73	0.00841	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.670270	0.15467	N	0.260802	T	0.73860	0.3641	N	0.02539	-0.55	0.19575	N	0.999964	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.007;0.008;0.003	T	0.75687	-0.3231	10	0.05436	T	0.98	.	4.0597	0.09832	0.5606:0.1461:0.1631:0.1302	.	589;557;589	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	K	589;589;557;557;22;552;589;557	ENSP00000342396:N589K;ENSP00000304783:N589K;ENSP00000377331:N557K;ENSP00000389733:N557K;ENSP00000346325:N22K;ENSP00000377330:N552K;ENSP00000377328:N589K;ENSP00000377324:N557K	ENSP00000304783:N589K	N	-	3	2	SLC26A5	102806147	0.000000	0.05858	0.371000	0.25978	0.426000	0.31534	-3.355000	0.00500	-1.282000	0.02396	-0.151000	0.13558	AAC		0.448	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		18	150	1	0	1.64113e-05	1	1.7818e-05	18	150					T	103018911	G	T	103018911	3	4	259	1	0	0	0	0	1	0	0	0	14520	1136	40	4	524	4	SLC26A5	7	103018911	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	16	103018911	56119752	29	29050			1	27		2	2	17	N	G_C	3.307787e-05
COG5	10466	broad.mit.edu	37	chr7	106851543	106851543	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgactttatttattaCctggaaaggagatttcagtt	9	5	1	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	ENST00000347053.3	-	19	2376		c.e19+1		COG5_ENST00000297135.3_Splice_Site|COG5_ENST00000393603.2_Splice_Site	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						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						TTATTTATTACCTGGAAAGGA	0.468																																						ENST00000393603.2																			0				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						c.e20+1		component of oligomeric golgi complex 5							81	79	80					7																	106851543		2203	4300	6503	SO:0001630	splice_region_variant	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106851543C>T	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.2325+1G>A	7.37:g.106851543C>T						COG5_ENST00000347053.3_Splice_Site|COG5_ENST00000297135.3_Splice_Site		NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			20	2660	-								A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Splice_Site	SNP	ENST00000347053.3	37		CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147224	0.57151	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COG5	106638779	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	6.767000	0.74975	2.884000	0.98904	0.655000	0.94253	.		0.468	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		Intron	28	67	0	0	0	1	0	28	67					T	106851543	C	T	106851543	5	4	259	1	0	0	0	0	0	0	1	0	3661	521	18	2	209	2	COG5	7	106851543	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3832632	106851543	52287120	30	29051											
GPR85	54329	broad.mit.edu	37	chr7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ataacaggccaccaggtaggGgccccacaaggttagaaaca	11	11	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	ENST00000297146.3	-	3	1501	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	300					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458																																						ENST00000501255.2																			1	Substitution - Missense(1)	p.P300T(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(898-900)Ccc>Gcc		G protein-coupled receptor 85							67	73	71					7																	112723879		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112723879G>C	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.898C>G	7.37:g.112723879G>C	ENSP00000297146:p.Pro300Ala					GPR85_ENST00000297146.2_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A	p.P300A	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN			3	1521	-			300					Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.898C>G	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058736	0.55325	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90330	0.4351	10	0.87932	D	0	.	18.1843	0.89788	0.0:0.0:1.0:0.0	.	300	P60893	GPR85_HUMAN	A	300	ENSP00000445808:P300A;ENSP00000297146:P300A;ENSP00000396763:P300A;ENSP00000401178:P300A	ENSP00000297146:P300A	P	-	1	0	GPR85	112511115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.608000	0.88229	0.585000	0.79938	CCC		0.458	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			3	88	0	0	0	1	0	3	88					C	112723879	G	C	112723879	3	2	259	1	0	0	0	0	1	0	0	0	6715	1232	43	4	218	4	GPR85	7	112723879	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5872336	112723879	46414784	31	29052											
KCND2	3751	broad.mit.edu	37	chr7	119914854	119914854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcttccagacgtggcaGgacaccctggaacgttaccc	10	16	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	ENST00000331113.4	+	1	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	56					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGACGTGGCAGGACACCCTGG	0.567																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(166-168)caG>caA		potassium voltage-gated channel, Shal-related subfamily, member 2							127	133	131					7																	119914854		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914854G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.168G>A	7.37:g.119914854G>A							p.Q56Q	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1133	+	all_neural(327;0.117)		56					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.168G>A	CCDS5776.1																																																																																				0.567	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		10	232	0	0	0	1	0	10	232					A	119914854	G	A	119914854	2	1	259	1	0	0	0	0	0	0	0	1	8019	991	35	2		2	KCND2	7	119914854	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	7190975	119914854	39223809	32	29053											
LOXL2	4017	broad.mit.edu	37	chr8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatgaacatgggccGgtcctccaggtaggtggtct	14	11	1	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	ENST00000389131.3	-	10	2065	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	566	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)		AACATGGGCCGGTCCTCCAGG	0.657																																						ENST00000389131.3																			0				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						c.(1696-1698)Cgg>Tgg		lysyl oxidase-like 2							47	44	45					8																	23167365		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167365G>A	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.1696C>T	8.37:g.23167365G>A	ENSP00000373783:p.Arg566Trp						p.R566W	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2065	-		Prostate(55;0.0453)|Breast(100;0.143)	566			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1696C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981396	0.74474	.	.	ENSG00000134013	ENST00000389131	T	0.33438	1.41	5.67	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.90425	3.115	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66779	-0.5837	10	0.59425	D	0.04	.	12.5577	0.56263	0.0:0.0:0.5482:0.4518	.	566;566	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	W	566	ENSP00000373783:R566W	ENSP00000373783:R566W	R	-	1	2	LOXL2	23223310	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.096000	0.41738	0.684000	0.31448	0.561000	0.74099	CGG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			3	68	0	0	0	1	0	3	68					A	23167365	G	A	23167365	3	1	259	1	0	0	0	0	1	0	0	0	8900	1115	39	1	648	1	LOXL2	8	23167365	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		23167365	123196657	33	29054											
RB1CC1	9821	broad.mit.edu	37	chr8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctttaatttcacaattttGagagtgcattatattttcca	4	6	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	ENST00000025008.5	-	15	3353	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	944					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)				TCACAATTTTGAGAGTGCATT	0.323																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				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						c.(2830-2832)Caa>Gaa		RB1-inducible coiled-coil 1							77	78	78					8																	53569559		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569559G>C	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.2830C>G	8.37:g.53569559G>C	ENSP00000025008:p.Gln944Glu					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E	p.Q944E	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	3353	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	944					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2830C>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155302	0.38021	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04015	3.73;3.73;3.73	5.26	3.4	0.38934	.	0.055990	0.64402	D	0.000001	T	0.12008	0.0292	L	0.36672	1.1	0.54753	D	0.999985	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	T	0.02966	-1.1088	10	0.37606	T	0.19	-11.18	12.3309	0.55039	0.0:0.1291:0.7366:0.1343	.	944;944	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	E	944	ENSP00000025008:Q944E;ENSP00000396067:Q944E;ENSP00000445960:Q944E	ENSP00000025008:Q944E	Q	-	1	0	RB1CC1	53732112	1.000000	0.71417	0.007000	0.13788	0.673000	0.39480	7.155000	0.77445	0.657000	0.30906	0.557000	0.71058	CAA		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		19	39	0	0	0	1	0	19	39					C	53569559	G	C	53569559	3	2	259	1	0	0	0	0	1	0	0	0	13099	1299	45	4	1994	4	RB1CC1	8	53569559	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	30402194	53569559	92794463	34	29055											
DMRT3	58524	broad.mit.edu	37	chr9	977181	977181	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acctgcgagaagtgcatcctCatcatcgagcggcagcgggt	13	12	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	ENST00000190165.2	+	1	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	60					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(178-180)ctC>ctG		doublesex and mab-3 related transcription factor 3							33	28	30					9																	977181		2200	4300	6500	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977181C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.180C>G	9.37:g.977181C>G							p.L60L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	218	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	60					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.180C>G	CCDS6443.1																																																																																				0.667	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		4	41	0	0	0	1	0	4	41					G	977181	C	G	977181	2	3	259	1	0	0	0	0	0	0	0	1	4587	813	29	4		4	DMRT3	9	977181	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08		977181	140236250	35	29056											
DENND1A	57706	broad.mit.edu	37	chr9	126164132	126164132	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgtcgggaacttggccGcaaaatgggtaatgcttttc	11	10	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:126164132G>A	ENST00000373624.2	-	20	1779				DENND1A_ENST00000394215.2_Missense_Mutation_p.A516V|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.A546V|MIR601_ENST00000385256.1_RNA	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GAACTTGGCCGCAAAATGGGT	0.483											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373620.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1636-1638)gCg>gTg		DENN/MADD domain containing 1A							271	233	245					9																	126164132		2203	4300	6503	SO:0001627	intron_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126164132G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1577+1548C>T	9.37:g.126164132G>A			OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1547	DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.A516V|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron	p.A546V	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN			21	1857	-			0					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1637C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	9.091	1.001749	0.19121	.	.	ENSG00000119522	ENST00000373620;ENST00000394215	T;T	0.07800	3.31;3.16	4.82	-1.01	0.10169	.	.	.	.	.	T	0.05914	0.0154	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	8	0.87932	D	0	.	4.9898	0.14209	0.5071:0.3097:0.1833:0.0	.	516;546	Q8TEH3-5;Q8TEH3-2	.;.	V	546;516	ENSP00000362722:A546V;ENSP00000377763:A516V	ENSP00000362722:A546V	A	-	2	0	DENND1A	125203953	0.001000	0.12720	0.005000	0.12908	0.008000	0.06430	0.478000	0.22212	-0.016000	0.14127	-0.487000	0.04747	GCG		0.483	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	170	0	0	0	1	0	4	170					A	126164132	G	A	126164132	1	1	259	0	1	0	0	0	0	0	0	0	4426	1087	38	1		1	DENND1A	9	126164132	Intron	SNP	G	TCGA-HT-7616-01A-11D-2253-08	125186951	126164132	15049299	36	29057											
ASB6	140459	broad.mit.edu	37	chr9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-													tggccaggtccaaggggctaCtctcgtggatctgagccaag							TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	ENST00000277458.4	-	4	577_578	c.412_413delAG	c.(412-414)agtfs	p.S139fs	ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs|ASB6_ENST00000277459.4_Intron|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	139					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(412-414)tfs		ankyrin repeat and SOCS box containing 6																																				SO:0001589	frameshift_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132401579_132401580delCT		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.412_413delAG	9.37:g.132401581_132401582delCT	ENSP00000277458:p.Ser139fs					ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs	p.S139fs	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			4	577_578	-		Ovarian(14;0.00556)	139					Q5SZB7|Q9BV15	Frame_Shift_Del	DEL	ENST00000277458.4	37	c.412_413delAG	CCDS6924.1																																																																																				0.624	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		25	54						25	54	---	---	---	---	-	132401580	CT	-	132401579	7	5	259	1	0	1	0	1	0	0	0	0	1027	565	20	0	864	0	ASB6	9	132401579	Frame_Shift_Del	DEL	CT	TCGA-HT-7616-01A-11D-2253-08	6237447	132401579	8811852	37	29058											
RET	5979	broad.mit.edu	37	chr10	43622043	43622043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactacttggaccttgcggcGtccactccatctgactccct	8	16	1	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	ENST00000355710.3	+	19	3292	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_ENST00000340058.5_Silent_p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1020					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)	ACCTTGCGGCGTCCACTCCAT	0.552		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)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				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						c.(3058-3060)gcG>gcA		ret proto-oncogene	Sunitinib(DB01268)						240	227	231					10																	43622043		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622043G>A	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.3060G>A	10.37:g.43622043G>A						RET_ENST00000340058.5_Silent_p.A1020A	p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3292	+		Ovarian(717;0.0423)	1020					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.3060G>A	CCDS7200.1																																																																																				0.552	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		176	240	0	0	0	1	0	176	240					A	43622043	G	A	43622043	2	1	259	1	0	0	0	0	0	0	0	1	13235	1132	40	1		1	RET	10	43622043	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08		43622043	91912704	38	29059											
OR4A47	403253	broad.mit.edu	37	chr11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccctctcaacctgcagttCccacatgactgtggttgtct	8	14	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	ENST00000446524.1	+	1	795	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240						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(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(718-720)tCc>tAc		olfactory receptor, family 4, subfamily A, member 47							168	162	164					11																	48511063		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511063C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.719C>A	11.37:g.48511063C>A	ENSP00000412752:p.Ser240Tyr						p.S240Y	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	795	+			240						Missense_Mutation	SNP	ENST00000446524.1	37	c.719C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	15.84	2.951670	0.53186	.	.	ENSG00000237388	ENST00000446524	T	0.39406	1.08	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.80265	0.4591	H	0.99668	4.69	0.40075	D	0.976062	D	0.89917	1.0	D	0.97110	1.0	D	0.89715	0.3915	10	0.87932	D	0	.	14.873	0.70474	0.0:1.0:0.0:0.0	.	240	Q6IF82	O4A47_HUMAN	Y	240	ENSP00000412752:S240Y	ENSP00000412752:S240Y	S	+	2	0	OR4A47	48467639	0.622000	0.27085	0.967000	0.41034	0.369000	0.29798	4.432000	0.59922	2.082000	0.62665	0.205000	0.17691	TCC		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		13	141	1	0	4.3838e-07	1	4.89954e-07	13	141					A	48511063	C	A	48511063	3	1	259	1	0	0	0	0	1	0	0	0	11042	855	30	4	721	4	OR4A47	11	48511063	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		48511063	86495453	39	29060											
CCDC15	80071	broad.mit.edu	37	chr11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagaccagcatgttctccCcaaagaccaagatattctgc	7	12	2	3	rs112861775	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:124857585C>A	ENST00000344762.5	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000529051.1_Missense_Mutation_p.P488H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1462-1464)cCc>cAc		coiled-coil domain containing 15							139	131	133					11																	124857585		1815	4070	5885	SO:0001583	missense	80071					centrosome		g.chr11:124857585C>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1463C>A	11.37:g.124857585C>A	ENSP00000341684:p.Pro488His					CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H	p.P488H			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1722	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	488					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1463C>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620062	0.28801	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.32515	1.45;1.46	2.6	-0.521	0.11931	.	0.245643	0.21458	N	0.074211	T	0.30759	0.0775	L	0.37850	1.14	0.09310	N	1	D	0.61697	0.99	P	0.55824	0.785	T	0.12451	-1.0547	10	0.54805	T	0.06	6.3288	6.1694	0.20408	0.0:0.4625:0.0:0.5375	.	488	Q0P6D6	CCD15_HUMAN	H	488	ENSP00000435403:P488H;ENSP00000341684:P488H	ENSP00000341684:P488H	P	+	2	0	CCDC15	124362795	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.006000	0.13152	-0.080000	0.12685	-0.640000	0.03970	CCC		0.403	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	189	1	0	0.150653	1	0.150653	4	189					A	124857585	C	A	124857585	3	1	259	1	0	0	0	0	1	0	0	0	2784	623	22	4	1489	4	CCDC15	11	124857585	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	76346522	124857585	10148931	40	29061											
NELL2	4753	broad.mit.edu	37	chr12	45000951	45000951	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaaatgatattcttaCccgtttcacagctgggtcca	8	9	2	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	ENST00000429094.2	-	15	2168		c.e15+1		NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000395487.2_Splice_Site|NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000549027.1_Splice_Site|NELL2_ENST00000452445.2_Splice_Site	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							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)		GATATTCTTACCCGTTTCACA	0.408																																						ENST00000429094.2																			0				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						c.e15+1		NEL-like 2 (chicken)							66	64	65					12																	45000951		2203	4299	6502	SO:0001630	splice_region_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000951C>T	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.1663+1G>A	12.37:g.45000951C>T						NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000452445.2_Splice_Site|NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000395487.2_Splice_Site|NELL2_ENST00000549027.1_Splice_Site		NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2168	-	Lung SC(27;0.192)	Lung NSC(34;0.144)						B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	ENST00000429094.2	37		CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992277	0.93167	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NELL2	43287218	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.179000	0.77665	2.885000	0.99019	0.655000	0.94253	.		0.408	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	Intron	5	41	0	0	0	1	0	5	41					T	45000951	C	T	45000951	5	4	259	1	0	0	0	0	0	0	1	0	10334	521	18	2	810	2	NELL2	12	45000951	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08		45000951	88850944	41	29062											
NAB2	4665	broad.mit.edu	37	chr12	57487218	57487218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtccaaggctgacgccGccccctgctgacctgcctct	9	18	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	ENST00000300131.3	+	6	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	435					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						GGCTGACGCCGCCCCCTGCTG	0.657																																						ENST00000300131.3																			0				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						c.(1303-1305)ccG>ccA		NGFI-A binding protein 2 (EGR1 binding protein 2)							14	15	14					12																	57487218		2187	4280	6467	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57487218G>A	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.1305G>A	12.37:g.57487218G>A						NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	p.P435P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			6	1683	+			435					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.1305G>A	CCDS8930.1																																																																																				0.657	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		3	14	0	0	0	1	0	3	14					A	57487218	G	A	57487218	2	1	259	1	0	0	0	0	0	0	0	1	10132	1074	38	1		1	NAB2	12	57487218	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12486267	57487218	76364677	42	29063											
TMBIM4	51643	broad.mit.edu	37	chr12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgatatccaagtagagGctgatggcagctaatacgta	11	6	0	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	ENST00000358230.3	-	7	768	c.648C>A	c.(646-648)agC>agA	p.S216R	TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R|TMBIM4_ENST00000539652.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	216					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)		CCAAGTAGAGGCTGATGGCAG	0.413																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(646-648)agC>agA		transmembrane BAX inhibitor motif containing 4							134	131	132					12																	66531809		1931	4137	6068	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66531809G>T	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.648C>A	12.37:g.66531809G>T	ENSP00000350965:p.Ser216Arg					TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R	p.S216R	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	768	-			216					Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.648C>A	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588257	0.66105	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539427;ENST00000542724	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.73	2.91	0.33838	.	0.195220	0.52532	D	0.000065	T	0.43722	0.1260	L	0.39020	1.185	0.80722	D	1	B;B;B	0.33103	0.185;0.397;0.154	B;B;B	0.44224	0.205;0.444;0.261	T	0.16660	-1.0395	9	.	.	.	-1.1212	10.273	0.43493	0.2753:0.0:0.7247:0.0	.	263;185;216	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	R	216;39;263;261;185	ENSP00000350965:S216R;ENSP00000444639:S39R;ENSP00000286424:S263R;ENSP00000441291:S185R	.	S	-	3	2	TMBIM4	64818076	1.000000	0.71417	0.971000	0.41717	0.968000	0.65278	1.589000	0.36644	0.432000	0.26286	0.655000	0.94253	AGC		0.413	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		4	129	1	0	0.00198382	1	0.00206534	4	129					T	66531809	G	T	66531809	3	4	259	1	0	0	0	0	1	0	0	0	15979	1194	42	4	72	4	TMBIM4	12	66531809	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	9044591	66531809	67320086	43	29064											
TMEM19	55266	broad.mit.edu	37	chr12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggcatggtggtcaacaGcccaacaaataaggcaaggc	11	11	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	ENST00000266673.5	+	6	1475	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	294						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(880-882)aGc>aAc		transmembrane protein 19							229	199	209					12																	72094645		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72094645G>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.881G>A	12.37:g.72094645G>A	ENSP00000266673:p.Ser294Asn						p.S294N	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1475	+		Breast(359;0.0889)	294					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.881G>A	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.371957	0.24857	.	.	ENSG00000139291	ENST00000266673;ENST00000546795	.	.	.	5.93	1.47	0.22746	.	0.439021	0.29028	N	0.013370	T	0.32466	0.0830	L	0.38838	1.175	0.80722	D	1	B	0.27791	0.189	B	0.25614	0.062	T	0.04551	-1.0943	9	0.20046	T	0.44	-2.3182	2.765	0.05317	0.4766:0.0:0.3134:0.21	.	294	Q96HH6	TMM19_HUMAN	N	294;138	.	ENSP00000266673:S294N	S	+	2	0	TMEM19	70380912	0.997000	0.39634	0.997000	0.53966	0.990000	0.78478	2.536000	0.45693	0.371000	0.24564	0.655000	0.94253	AGC		0.413	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	196	0	0	0	1	0	8	196					A	72094645	G	A	72094645	3	1	259	1	0	0	0	0	1	0	0	0	16110	971	34	2	903	2	TMEM19	12	72094645	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5562836	72094645	61757250	44	29065											
SLC5A8	160728	broad.mit.edu	37	chr12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagctcccataagtgacGccagcgcagccattccaata	7	14	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	ENST00000536262.2	-	10	1766	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1207-1209)gCg>gTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							166	163	164					12																	101573832		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101573832G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1208C>T	12.37:g.101573832G>A	ENSP00000445340:p.Ala403Val						p.A403V	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			10	1766	-			403						Missense_Mutation	SNP	ENST00000536262.2	37	c.1208C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363988	0.82353	.	.	ENSG00000256870	ENST00000536262	D	0.88201	-2.35	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.90717	0.7087	L	0.38692	1.165	0.80722	D	1	D	0.69078	0.997	P	0.59825	0.864	D	0.88678	0.3200	10	0.31617	T	0.26	.	19.7509	0.96268	0.0:0.0:1.0:0.0	.	403	Q8N695	SC5A8_HUMAN	V	403	ENSP00000445340:A403V	ENSP00000445340:A403V	A	-	2	0	SLC5A8	100097963	1.000000	0.71417	0.930000	0.37139	0.173000	0.22820	8.180000	0.89694	2.770000	0.95276	0.650000	0.86243	GCG		0.443	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		63	168	0	0	0	1	0	63	168					A	101573832	G	A	101573832	3	1	259	1	0	0	0	0	1	0	0	0	14671	1087	38	1	648	1	SLC5A8	12	101573832	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	29479187	101573832	32278063	45	29066											
SRRM4	84530	broad.mit.edu	37	chr12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaccaaaacagccagccCgctcaccacctcgcgaggac	7	18	1	0	rs377333031		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	ENST00000267260.4	+	9	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	274	Ser-rich.				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						ACAGCCAGCCCGCTCACCACC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15669	0.0		0.0	False		,,,				2504	0.0					ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(820-822)cCg>cTg		serine/arginine repetitive matrix 4		C	LEU/PRO	1,3961		0,1,1980	26	29	28		821	1.2	1	12		28	0,8306		0,0,4153	no	missense	SRRM4	NM_194286.3	98	0,1,6133	TT,TC,CC		0.0,0.0252,0.0082	probably-damaging	274/612	119583235	1,12267	1981	4153	6134	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583235C>T	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.821C>T	12.37:g.119583235C>T	ENSP00000267260:p.Pro274Leu						p.P274L	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1209	+			274			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.821C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973226	0.53614	2.52E-4	0.0	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.48	1.24	0.21308	.	0.460360	0.25490	N	0.030304	T	0.18841	0.0452	L	0.53249	1.67	0.35329	D	0.785432	B	0.18741	0.03	B	0.12156	0.007	T	0.10613	-1.0622	9	.	.	.	-6.6734	4.4076	0.11416	0.3347:0.3747:0.2229:0.0677	.	274	A7MD48	SRRM4_HUMAN	L	274	ENSP00000267260:P274L	.	P	+	2	0	SRRM4	118067618	0.581000	0.26741	0.990000	0.47175	0.952000	0.60782	0.360000	0.20250	0.248000	0.21435	0.655000	0.94253	CCG		0.612	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	8	0	0	0	1	0	4	8					T	119583235	C	T	119583235	3	4	259	1	0	0	0	0	1	0	0	0	15170	652	23	1	855	1	SRRM4	12	119583235	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	18009403	119583235	14268660	46	29067											
NPAS3	64067	broad.mit.edu	37	chr14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcggcggcggtggggGtggcggtggcggggggctgc	28	8	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	ENST00000356141.4	+	12	2102	c.2102G>A	c.(2101-2103)gGt>gAt	p.G701D	NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000346562.2_Missense_Mutation_p.G669D|NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	701	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)		GGCGGTGGGGGTGGCGGTGGC	0.746																																						ENST00000346562.2																			0				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						c.(2005-2007)gGt>gAt		neuronal PAS domain protein 3							11	15	14					14																	34269615		2093	4098	6191	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269615G>A	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.2102G>A	14.37:g.34269615G>A	ENSP00000348460:p.Gly701Asp					NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D|NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G701D	p.G669D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	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)	11	2080	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		701					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2006G>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	3.077	-0.189850	0.06299	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.61	2.52	0.30459	.	0.338992	0.20516	N	0.090786	T	0.46054	0.1373	N	0.08118	0	0.58432	D	0.999991	P;B;P;P	0.35208	0.49;0.358;0.49;0.49	B;B;B;B	0.34824	0.19;0.093;0.19;0.19	T	0.28586	-1.0039	10	0.15952	T	0.53	.	10.3373	0.43858	0.0:0.3906:0.6094:0.0	.	671;701;669;688	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	D	675;706;669;671;701;688	ENSP00000448373:G675D;ENSP00000450392:G706D;ENSP00000319610:G669D;ENSP00000448916:G671D;ENSP00000348460:G701D;ENSP00000350446:G688D	ENSP00000319610:G669D	G	+	2	0	NPAS3	33339366	.	.	0.729000	0.30791	0.062000	0.15995	.	.	0.983000	0.38602	0.555000	0.69702	GGT		0.746	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			3	54	0	0	0	1	0	3	54					A	34269615	G	A	34269615	3	1	259	1	0	0	0	0	1	0	0	0	10564	1261	44	2	2203	2	NPAS3	14	34269615	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		34269615	73079925	47	29068											
ZC3H14	79882	broad.mit.edu	37	chr14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaagaagaattgctagcaGaagtggtccagggacaaagt	12	7	1	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	ENST00000251038.5	+	9	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	397						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1189-1191)Gaa>Aaa		zinc finger CCCH-type containing 14							92	94	94					14																	89044394		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044394G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1189G>A	14.37:g.89044394G>A	ENSP00000251038:p.Glu397Lys					ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K	p.E397K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			9	1414	+			397					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1189G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293350	0.80914	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.51	5.51	0.81932	.	0.052158	0.85682	D	0.000000	T	0.76335	0.3973	M	0.64997	1.995	0.51233	D	0.999916	D;D;D;D;D;D	0.71674	0.974;0.996;0.998;0.996;0.998;0.996	P;D;D;P;D;P	0.80764	0.736;0.99;0.991;0.893;0.994;0.893	T	0.71411	-0.4601	9	0.27082	T	0.32	-25.195	17.963	0.89091	0.0:0.0:1.0:0.0	.	397;378;397;397;397;397	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	K	397;397;397;363;397;378;397;242;397;397;363	.	ENSP00000251038:E397K	E	+	1	0	ZC3H14	88114147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.492000	0.81482	2.747000	0.94245	0.650000	0.86243	GAA		0.388	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		43	62	0	0	0	1	0	43	62					A	89044394	G	A	89044394	3	1	259	1	0	0	0	0	1	0	0	0	17563	943	33	2	1223	2	ZC3H14	14	89044394	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	54774779	89044394	18305146	48	29069											
AHNAK2	113146	broad.mit.edu	37	chr14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccacctttggcgCggtcacatccactgatgcct	10	16	1	1	rs369971630		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	ENST00000333244.5	-	7	12102	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						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)			ACCTTTGGCGCGGTCACATCC	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11983-11985)Gcg>Acg		AHNAK nucleoprotein 2		C	THR/ALA	1,4059		0,1,2029	168	177	174		11983	-5.7	0	14		174	0,8358		0,0,4179	no	missense	AHNAK2	NM_138420.2	58	0,1,6208	TT,TC,CC		0.0,0.0246,0.0081	possibly-damaging	3995/5796	105409805	1,12417	2030	4179	6209	SO:0001583	missense	113146					nucleus		g.chr14:105409805C>T	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.11983G>A	14.37:g.105409805C>T	ENSP00000353114:p.Ala3995Thr					AHNAK2_ENST00000557457.1_Intron	p.A3995T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12102	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3995					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11983G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	12.14	1.850116	0.32699	2.46E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	4.08	-5.7	0.02421	.	.	.	.	.	T	0.00936	0.0031	M	0.69358	2.11	0.09310	N	1	P	0.36753	0.568	B	0.31390	0.129	T	0.37934	-0.9684	9	0.13853	T	0.58	.	12.7748	0.57441	0.0:0.6562:0.1768:0.167	.	3995	Q8IVF2	AHNK2_HUMAN	T	3995	ENSP00000353114:A3995T	ENSP00000353114:A3995T	A	-	1	0	AHNAK2	104480850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.222000	0.01215	-0.814000	0.04352	0.306000	0.20318	GCG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		118	198	0	0	0	1	0	118	198					T	105409805	C	T	105409805	3	4	259	1	0	0	0	0	1	0	0	0	415	768	27	1	5408	1	AHNAK2	14	105409805	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	16365411	105409805	1939735	49	29070											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T													tggtggctggcttcgctgccINStttttggggaagtacctgga					rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	ENST00000318445.6	+	5	1324_1325	c.1110_1111insT	c.(1111-1113)tttfs	p.F371fs	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.F371fs	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	371					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)	GCTTCGCTGCCTTTTTGGGGAA	0.584																																						ENST00000318445.6																			0				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						c.(1108-1113)gcttttfs		solute carrier organic anion transporter family, member 3A1																																				SO:0001589	frameshift_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92663795_92663796insT	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.1115dupT	15.37:g.92663800_92663800dupT	ENSP00000320634:p.Phe371fs					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.AF370fs	p.AF370fs	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		5	1324_1325	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		370					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Frame_Shift_Ins	INS	ENST00000318445.6	37	c.1110_1111insT	CCDS10371.1																																																																																				0.584	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		47	358						47	358	---	---	---	---	T	92663796	-	T	92663795	7	5	259	1	0	1	1	0	0	0	0	0	14728	668	24	0	1128	0	SLCO3A1	15	92663795	Frame_Shift_Ins	INS	-	TCGA-HT-7616-01A-11D-2253-08		92663795	9867597	50	29071											
CCDC135	84229	broad.mit.edu	37	chr16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacaaaaccaacacacCcaaggaggaacacctgctgc	6	15	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	ENST00000360716.3	+	4	487	c.266C>G	c.(265-267)cCc>cGc	p.P89R	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R|CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R			Q8IY82	CC135_HUMAN		89					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(265-267)cCc>cGc		coiled-coil domain containing 135							185	166	172					16																	57732824		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57732824C>G																												ENST00000360716.3:c.266C>G	16.37:g.57732824C>G	ENSP00000353942:p.Pro89Arg					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R|CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R	p.P89R			Q8IY82	CC135_HUMAN			4	487	+			89					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.266C>G	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459421	0.43736	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.75050	1.94;-0.9;1.94	5.7	1.48	0.22813	.	0.955817	0.08699	N	0.906706	T	0.67906	0.2943	L	0.57536	1.79	0.09310	N	1	P;P	0.46912	0.886;0.546	P;B	0.45712	0.491;0.286	T	0.53272	-0.8462	10	0.20519	T	0.43	-7.8454	1.8705	0.03207	0.1263:0.447:0.1232:0.3035	.	89;89	Q8IY82-2;Q8IY82	.;CC135_HUMAN	R	89	ENSP00000377869:P89R;ENSP00000338938:P89R;ENSP00000353942:P89R	ENSP00000338938:P89R	P	+	2	0	CCDC135	56290325	0.000000	0.05858	0.175000	0.22980	0.957000	0.61999	-0.035000	0.12205	0.038000	0.15604	0.643000	0.83706	CCC		0.577	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			43	227	0	0	0	1	0	43	227					G	57732824	C	G	57732824	3	3	259	1	0	0	0	0	1	0	0	0	2769	623	22	4	272	4	CCDC135	16	57732824	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		57732824	32621929	51	29072											
APPBP2	10513	broad.mit.edu	37	chr17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-													aaaacaaagccaacctgaatGgctttttcctttactgcagc							TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	ENST00000083182.3	-	3	644	c.357delC	c.(355-357)gccfs	p.A119fs		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	119					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(355-357)gcfs		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							100	97	98					17																	58571849		2203	4300	6503	SO:0001589	frameshift_variant	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58571849delG	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"protein interacting with APP tail 1"	605324	"amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.357delC	17.37:g.58571849delG	ENSP00000083182:p.Ala119fs						p.A119fs	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		3	644	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		119					A8K862|O95095|Q8WVC9	Frame_Shift_Del	DEL	ENST00000083182.3	37	c.357delC	CCDS32699.1																																																																																				0.403	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		32	78						32	78	---	---	---	---	-	58571849	G	-	58571849	7	5	259	1	0	1	0	1	0	0	0	0	816	1335	47	0	1444	0	APPBP2	17	58571849	Frame_Shift_Del	DEL	G	TCGA-HT-7616-01A-11D-2253-08		58571849	22623361	52	29073											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	11	10	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		4	370	0	0	0	1	0	4	370					C	76993313	T	C	76993313	3	2	259	1	0	0	0	0	1	0	0	0	2617	1609	56	3	825	3	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	18421464	76993313	4201897	53	29074											
SLC7A9	11136	broad.mit.edu	37	chr19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacgctgatgtaagaaAgcactttgagcatgtgaccc	11	10	0	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	ENST00000023064.4	-	10	1213	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H	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	341					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)	GATGTAAGAAAGCACTTTGAG	0.562																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				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						c.(1021-1023)cTt>cAt		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						72	64	67					19																	33334813		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334813A>T	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.1022T>A	19.37:g.33334813A>T	ENSP00000023064:p.Leu341His					SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H	p.L341H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			10	1213	-	Esophageal squamous(110;0.137)		341					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.1022T>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752138	0.89753	.	.	ENSG00000021488	ENST00000023064	D	0.92446	-3.04	5.37	5.37	0.77165	Amino acid permease domain (1);	0.062767	0.64402	D	0.000007	D	0.97545	0.9196	H	0.97516	4.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98965	1.0799	10	0.87932	D	0	.	15.0371	0.71757	1.0:0.0:0.0:0.0	.	341;341	Q53FY4;P82251	.;BAT1_HUMAN	H	341	ENSP00000023064:L341H	ENSP00000023064:L341H	L	-	2	0	SLC7A9	38026653	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.612000	0.82975	2.037000	0.60232	0.533000	0.62120	CTT		0.562	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			21	30	0	0	0	1	0	21	30					T	33334813	A	T	33334813	3	4	259	1	0	0	0	0	1	0	0	0	14705	72	3	5	457	5	SLC7A9	19	33334813	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		33334813	25794170	54	29075											
CAPNS1	826	broad.mit.edu	37	chr19	36631958	36631958	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagggcggcggcggcggcggCgggggaggcgggggcctggg	28	9	0	0	rs567500165		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		3971	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(43-45)ggC>ggG		calpain, small subunit 1							6	7	7					19																	36631958		1958	3947	5905	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36631958C>G	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.45C>G	19.37:g.36631958C>G						CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G	p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	643	+	Esophageal squamous(110;0.162)		15			Gly-rich (hydrophobic).|Poly-Gly.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.45C>G	CCDS12489.1																																																																																				0.736	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			3	17	0	0	0	1	0	3	17					G	36631958	C	G	36631958	2	3	259	1	0	0	0	0	0	0	0	1	2633	755	27	4		4	CAPNS1	19	36631958	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3297145	36631958	22497025	55	29076											
CIC	23152	broad.mit.edu	37	chr19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggctgggggaatcaccCaggtacagtacatcctgccc	12	13	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	ENST00000575354.2	+	10	2510	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*|CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1733*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	824	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)				GGGAATCACCCAGGTACAGTA	0.692			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5197-5199)Cag>Tag		capicua transcriptional repressor							15	17	16					19																	42795390		2202	4294	6496	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795390C>T	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.2470C>T	19.37:g.42795390C>T	ENSP00000458663:p.Gln824*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q824*	p.Q1733*			Q96RK0	CIC_HUMAN			11	5265	+		Prostate(69;0.00682)	824					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.5197C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863783	0.91511	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.8504	16.1479	0.81583	0.0:1.0:0.0:0.0	.	.	.	.	X	824	.	ENSP00000160740:Q824X	Q	+	1	0	CIC	47487230	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.035000	0.64158	2.420000	0.82092	0.561000	0.74099	CAG		0.692	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	16	0	0	0	1	0	4	16					T	42795390	C	T	42795390	4	4	259	1	0	0	0	0	0	1	0	0	3424	595	21	2	2508	2	CIC	19	42795390	Nonsense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	6163432	42795390	16333593	56	29077											
PPFIA3	8541	broad.mit.edu	37	chr19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctccggggccaactcaAgatggtggacagctttcaca	13	11	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	ENST00000334186.4	+	24	3339	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	997	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		GGCCAACTCAAGATGGTGGAC	0.582																																						ENST00000334186.4																			0				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						c.(2989-2991)aAg>aGg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							34	35	34					19																	49651494		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49651494A>G	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.2990A>G	19.37:g.49651494A>G	ENSP00000335614:p.Lys997Arg					PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	p.K997R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	24	3339	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	997			SAM 2.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2990A>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444105	0.83993	.	.	ENSG00000177380	ENST00000334186	T	0.50813	0.73	4.35	4.35	0.52113	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.44688	D	0.000424	T	0.60248	0.2254	L	0.48642	1.525	0.80722	D	1	B;D	0.76494	0.108;0.999	B;D	0.91635	0.081;0.999	T	0.61118	-0.7127	10	0.49607	T	0.09	-30.1614	12.8391	0.57790	1.0:0.0:0.0:0.0	.	988;997	O75145-2;O75145	.;LIPA3_HUMAN	R	997	ENSP00000335614:K997R	ENSP00000335614:K997R	K	+	2	0	PPFIA3	54343306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.275000	0.95738	1.750000	0.51863	0.460000	0.39030	AAG		0.582	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		19	15	0	0	0	1	0	19	15					G	49651494	A	G	49651494	3	3	259	1	0	0	0	0	1	0	0	0	12311	72	3	3	3080	3	PPFIA3	19	49651494	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08	6856104	49651494	9477489	57	29078											
RSPO4	343637	broad.mit.edu	37	chr20	944643	944643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggcaggtggctgccTcctcatgcccagcccggcca	12	18	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	ENST00000217260.4	-	4	626	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	177	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(529-531)gAg>gGg		R-spondin 4							34	40	38					20																	944643		1999	4167	6166	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944643T>C	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.530A>G	20.37:g.944643T>C	ENSP00000217260:p.Glu177Gly					RSPO4_ENST00000400634.2_Intron	p.E177G	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			4	626	-			177			TSP type-1.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.530A>G	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034573	0.54896	.	.	ENSG00000101282	ENST00000217260	T	0.13538	2.58	4.62	4.62	0.57501	.	0.264927	0.30085	N	0.010446	T	0.14614	0.0353	N	0.11651	0.15	0.80722	D	1	D	0.58620	0.983	P	0.55303	0.773	T	0.11348	-1.0591	10	0.62326	D	0.03	-18.4711	13.1751	0.59621	0.0:0.0:0.0:1.0	.	177	Q2I0M5	RSPO4_HUMAN	G	177	ENSP00000217260:E177G	ENSP00000217260:E177G	E	-	2	0	RSPO4	892643	1.000000	0.71417	0.144000	0.22314	0.171000	0.22731	4.439000	0.59968	1.870000	0.54199	0.248000	0.18094	GAG		0.672	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		8	79	0	0	0	1	0	8	79					C	944643	T	C	944643	3	2	259	1	0	0	0	0	1	0	0	0	13712	1551	54	3	182	3	RSPO4	20	944643	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08		944643	62080877	58	29079											
STMN3	50861	broad.mit.edu	37	chr20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacctcgcgctcgtgctCgcgccgctccgccagctgct	11	20	0	0	rs370557606		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	ENST00000370053.1	-	4	415	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	112	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692																																						ENST00000370053.1																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8						c.(334-336)Gag>Aag		stathmin-like 3		C	LYS/GLU	0,4394		0,0,2197	23	21	22		334	5.1	1	20		22	1,8597		0,1,4298	no	missense	STMN3	NM_015894.2	56	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	112/181	62273610	1,12991	2197	4299	6496	SO:0001583	missense	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62273610C>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.334G>A	20.37:g.62273610C>T	ENSP00000359070:p.Glu112Lys					STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	p.E112K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		4	415	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		112					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	c.334G>A	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	c	32	5.129302	0.94473	0.0	1.16E-4	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000009	T	0.77445	0.4131	M	0.84511	2.7	0.58432	D	0.999998	D	0.69078	0.997	P	0.54431	0.752	T	0.81439	-0.0932	9	0.54805	T	0.06	-21.4045	18.6308	0.91359	0.0:1.0:0.0:0.0	.	112	Q9NZ72	STMN3_HUMAN	K	112;101	.	ENSP00000359070:E112K	E	-	1	0	STMN3	61744054	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	7.558000	0.82253	2.404000	0.81709	0.479000	0.44913	GAG		0.692	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		6	25	0	0	0	1	0	6	25					T	62273610	C	T	62273610	3	4	259	1	0	0	0	0	1	0	0	0	15309	893	31	1	216	1	STMN3	20	62273610	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	61328967	62273610	751910	59	29080											
MX2	4600	broad.mit.edu	37	chr21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagccagtacgagcagAaggtgcgcccctgcattgac	12	12	0	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	ENST00000330714.3	+	3	470	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	96					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(286-288)Aag>Tag		myxovirus (influenza virus) resistance 2 (mouse)							85	78	81					21																	42749752		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42749752A>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.286A>T	21.37:g.42749752A>T	ENSP00000333657:p.Lys96*					MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			3	470	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	96					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.286A>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.213820	0.58452	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000418103	.	.	.	3.92	2.74	0.32292	.	0.166802	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1692	8.7453	0.34583	0.9037:0.0:0.0963:0.0	.	.	.	.	X	96	.	ENSP00000333657:K96X	K	+	1	0	MX2	41671622	1.000000	0.71417	0.988000	0.46212	0.042000	0.13812	8.073000	0.89498	0.622000	0.30249	-0.290000	0.09829	AAG		0.627	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		27	76	0	0	0	1	0	27	76					T	42749752	A	T	42749752	4	4	259	1	0	0	0	0	0	1	0	0	9998	247	9	5	292	5	MX2	21	42749752	Nonsense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		42749752	5380143	60	29081											
COL18A1	80781	broad.mit.edu	37	chr21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtccacagggggagaagggaGaccgaggtgatgcaggacag	19	7	0	3	rs552269448		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	ENST00000359759.4	+	33	4006	c.3985G>T	c.(3985-3987)Gac>Tac	p.D1329Y	COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1329	Triple-helical region 8 (COL8).				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)		GGAGAAGGGAGACCGAGGTGA	0.706																																						ENST00000359759.4																			0				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						c.(3985-3987)Gac>Tac		collagen, type XVIII, alpha 1							13	16	15					21																	46924342		1835	4025	5860	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46924342G>T		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.3985G>T	21.37:g.46924342G>T	ENSP00000352798:p.Asp1329Tyr					COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y|COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|SLC19A1_ENST00000567670.1_Intron	p.D1329Y			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	33	4006	+			1329			Triple-helical region 8 (COL8).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3985G>T		.	.	.	.	.	.	.	.	.	.	G	14.48	2.548161	0.45383	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.48	4.48	0.54585	.	0.325822	0.31685	N	0.007227	D	0.94683	0.8285	L	0.58510	1.815	0.80722	D	1	D;D;D	0.67145	0.996;0.983;0.983	P;P;P	0.58873	0.819;0.847;0.847	D	0.95014	0.8154	10	0.66056	D	0.02	.	14.2659	0.66118	0.0:0.0:1.0:0.0	.	1329;1094;914	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	Y	914;914;1094;1329;1329;261	ENSP00000383191:D914Y;ENSP00000347665:D1094Y;ENSP00000352798:D1329Y;ENSP00000339118:D261Y	ENSP00000339118:D261Y	D	+	1	0	COL18A1	45748770	0.993000	0.37304	0.241000	0.24154	0.467000	0.32768	3.921000	0.56454	2.210000	0.71456	0.650000	0.86243	GAC		0.706	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			3	32	1	0	0.000602214	1	0.000644624	3	32					T	46924342	G	T	46924342	3	4	259	1	0	0	0	0	1	0	0	0	3675	942	33	4	4229	4	COL18A1	21	46924342	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	4174590	46924342	1205553	61	29082											
IGLL1	3543	broad.mit.edu	37	chr22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-													tgggttaccacggccagaccCagcagcagcaggggccagcg							TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	ENST00000330377.2	-	1	202_204	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del|KB-208E9.1_ENST00000608615.1_lincRNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	29					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(85-87)del		immunoglobulin lambda-like polypeptide 1																																				SO:0001651	inframe_deletion	3543				immune response	extracellular region|membrane		g.chr22:23922291_23922293delCAG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.85_87delCTG	22.37:g.23922300_23922302delCAG	ENSP00000329312:p.Leu29del					IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			1	202_204	-			29					Q0P681	In_Frame_Del	DEL	ENST00000330377.2	37	c.85_87delCTG	CCDS13809.1																																																																																				0.719	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		3	4						3	4	---	---	---	---	-	23922293	CAG	-	23922291	7	5	259	1	0	1	0	1	0	0	0	0	7593	581	21	0	566	0	IGLL1	22	23922291	In_Frame_Del	DEL	CAG	TCGA-HT-7616-01A-11D-2253-08		23922291	27382275	62	29083											
MXRA5	25878	broad.mit.edu	37	chrX	3241681	3241681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagcctttgcacctgggCgtctgcctcttttggatggc	12	11	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						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)				TGCACCTGGGCGTCTGCCTCT	0.532																																						ENST00000217939.6																			0				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						c.(2044-2046)cGc>cAc		matrix-remodelling associated 5							78	73	74					X																	3241681		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241681C>T	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.2045G>A	X.37:g.3241681C>T	ENSP00000217939:p.Arg682His						p.R682H	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2199	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	682					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2045G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	4.025	0.002194	0.07819	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65549	-0.16	3.48	0.632	0.17705	.	0.561089	0.14863	N	0.293997	T	0.34919	0.0914	N	0.08118	0	0.20975	N	0.999819	B	0.19331	0.035	B	0.10450	0.005	T	0.16188	-1.0411	10	0.24483	T	0.36	.	6.6189	0.22792	0.0:0.5558:0.0:0.4442	.	682	Q9NR99	MXRA5_HUMAN	H	682	ENSP00000217939:R682H	ENSP00000217939:R682H	R	-	2	0	MXRA5	3251681	0.875000	0.30112	0.004000	0.12327	0.007000	0.05969	-0.070000	0.11523	-0.013000	0.14199	0.529000	0.55759	CGC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		24	18	0	0	0	1	0	24	18					T	3241681	C	T	3241681	3	4	259	1	0	0	0	0	1	0	0	0	10003	768	27	1	6453	1	MXRA5	23	3241681	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		3241681	152028879	63	29084											
RS1	6247	broad.mit.edu	37	chrX	18665417	18665417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggtccggtgtgacctcccCtgactcgaaacccagaggct	11	15	0	3	rs62645900		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	ENST00000379984.3	-	4	260	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	74	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		G -> V (in XLRS1). {ECO:0000269|PubMed:10234514, ECO:0000269|PubMed:10533068}.		adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	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-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(220-222)Ggg>Cgg		retinoschisin 1							90	82	84					X																	18665417		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18665417C>G	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.220G>C	X.37:g.18665417C>G	ENSP00000369320:p.Gly74Arg					RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	p.G74R	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			4	260	-	Hepatocellular(33;0.183)		74		G -> V (in XLRS1).	F5/8 type C.		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.220G>C	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619283	0.87460	.	.	ENSG00000102104	ENST00000379984	D	0.99129	-5.46	5.43	5.43	0.79202	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.094339	0.85682	D	0.000000	D	0.98868	0.9617	M	0.68952	2.095	0.58432	D	0.999999	D	0.69078	0.997	D	0.64410	0.925	D	0.98959	1.0797	10	0.54805	T	0.06	.	11.8151	0.52204	0.0:0.9176:0.0:0.0824	.	74	O15537	XLRS1_HUMAN	R	74	ENSP00000369320:G74R	ENSP00000369320:G74R	G	-	1	0	RS1	18575338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.778000	0.68940	2.265000	0.75225	0.523000	0.50628	GGG		0.507	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			15	46	0	0	0	1	0	15	46					G	18665417	C	G	18665417	3	3	259	1	0	0	0	0	1	0	0	0	13693	681	24	4	466	4	RS1	23	18665417	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	15423736	18665417	136605143	64	29085											
FUBP1	8880	broad.mit.edu	37	chr1	78429792	78429792	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataatttctgcagcatgttgAcatcggtctggaggtcctgt	11	8	2	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:78429792A>T	ENST00000370768.2	-	12	1077	c.996T>A	c.(994-996)tgT>tgA	p.C332*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.C332*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCATGTTGACATCGGTCTG	0.328			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(994-996)tgT>tgA		far upstream element (FUSE) binding protein 1							231	224	226					1																	78429792		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429792A>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.996T>A	1.37:g.78429792A>T	ENSP00000359804:p.Cys332*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.C332*	p.C332*			Q96AE4	FUBP1_HUMAN			12	1083	-			332			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.996T>A	CCDS683.1	.	.	.	.	.	.	.	.	.	.	A	32	5.183646	0.94885	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	3.49	0.39957	.	0.093791	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.4556	9.1644	0.37043	0.7941:0.0:0.2059:0.0	.	.	.	.	X	331;332;332;331;353	.	ENSP00000294623:C331X	C	-	3	2	FUBP1	78202380	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	1.631000	0.37092	0.459000	0.27016	-0.297000	0.09499	TGT		0.328	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		21	66	0	0	0	1	0	21	66					T	78429792	A	T	78429792	4	4	260	1	0	0	0	0	0	1	0	0	6092	273	10	5	974	5	FUBP1	1	78429792	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		78429792	170820829	1	29086											
CFH	3075	broad.mit.edu	37	chr1	196648911	196648911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctggatggcgtccgttgCcttcatgtgaaggtaatgtt	12	7	2	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:196648911C>T	ENST00000359637.2	+	5	648	c.586C>T	c.(586-588)Cct>Tct	p.P196S	CFH_ENST00000367429.4_Missense_Mutation_p.P260S|CFH_ENST00000439155.2_Missense_Mutation_p.P260S			P08603	CFAH_HUMAN	complement factor H	260	Sushi 3. {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						GCGTCCGTTGCCTTCATGTGA	0.294																																						ENST00000367429.4																			0				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						c.(778-780)Cct>Tct		complement factor H							95	86	89					1																	196648911		2203	4298	6501	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196648911C>T	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	ENST00000359637.2:c.586C>T	1.37:g.196648911C>T	ENSP00000352658:p.Pro196Ser					CFH_ENST00000439155.2_Missense_Mutation_p.P260S|CFH_ENST00000359637.2_Missense_Mutation_p.P196S	p.P260S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			6	1018	+			260			Sushi 4.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.778C>T		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162201	0.57368	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.76968	-1.06;-1.06;-1.06	5.85	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.90452	0.7010	M	0.93328	3.405	0.09310	N	1	D;P;D;P	0.89917	0.999;0.945;1.0;0.739	D;P;D;B	0.81914	0.995;0.765;0.98;0.369	T	0.83229	-0.0064	9	0.72032	D	0.01	.	12.9463	0.58373	0.1722:0.8278:0.0:0.0	.	196;260;260;260	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	S	260;260;260;196	ENSP00000356399:P260S;ENSP00000402656:P260S;ENSP00000352658:P196S	ENSP00000352658:P196S	P	+	1	0	CFH	194915534	0.176000	0.23096	0.187000	0.23214	0.298000	0.27526	1.903000	0.39858	2.771000	0.95319	0.561000	0.74099	CCT		0.294	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		5	28	0	0	0	1	0	5	28					T	196648911	C	T	196648911	3	4	260	1	0	0	0	0	1	0	0	0	3283	739	26	2	800	2	CFH	1	196648911	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	118219119	196648911	52601710	2	29087											
CNST	163882	broad.mit.edu	37	chr1	246810446	246810446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcatctttagagagtAaaacttgtctcggcacagag	8	8	4	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:246810446A>G	ENST00000366513.4	+	9	1212	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	315					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAGAGAGTAAAACTTGTCT	0.388											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(943-945)Aaa>Gaa		consortin, connexin sorting protein							46	51	49					1																	246810446		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810446A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.943A>G	1.37:g.246810446A>G	ENSP00000355470:p.Lys315Glu		OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E	p.K315E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1212	+			315					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.943A>G	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	1.756	-0.488029	0.04352	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.13307	2.6;2.65	5.49	1.66	0.24008	.	0.833513	0.11030	N	0.607333	T	0.03348	0.0097	N	0.00754	-1.215	0.23809	N	0.996782	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42378	-0.9455	10	0.02654	T	1	-14.5287	8.3268	0.32162	0.3226:0.0:0.6774:0.0	.	315;315	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	E	315	ENSP00000355470:K315E;ENSP00000355469:K315E	ENSP00000355469:K315E	K	+	1	0	CNST	244877069	0.982000	0.34865	0.002000	0.10522	0.827000	0.46813	0.884000	0.28214	0.081000	0.16988	0.377000	0.23210	AAA		0.388	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		14	40	0	0	0	1	0	14	40					G	246810446	A	G	246810446	3	3	260	1	0	0	0	0	1	0	0	0	3634	363	13	3	973	3	CNST	1	246810446	Missense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08	50161535	246810446	2440175	3	29088											
CCT7	10574	broad.mit.edu	37	chr2	73478419	73478419	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtacctgcgggattaCtcaaggactattccaggaaa	9	10	1	0			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:73478419C>G	ENST00000258091.5	+	11	1410	c.1269C>G	c.(1267-1269)taC>taG	p.Y423*	CCT7_ENST00000539919.1_Nonsense_Mutation_p.Y379*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	423					'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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCGGGATTACTCAAGGACTA	0.517																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(1135-1137)taC>taG		chaperonin containing TCP1, subunit 7 (eta)							118	122	120					2																	73478419		1949	4156	6105	SO:0001587	stop_gained	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73478419C>G	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1269C>G	2.37:g.73478419C>G	ENSP00000258091:p.Tyr423*					CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.Y423*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295*	p.Y379*	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			12	1508	+			423					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Nonsense_Mutation	SNP	ENST00000258091.5	37	c.1137C>G	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287139	0.95517	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	.	.	.	4.85	3.97	0.46021	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5106	9.8877	0.41272	0.0:0.8276:0.0:0.1724	.	.	.	.	X	336;379;423;219;323;295;381	.	ENSP00000258091:Y423X	Y	+	3	2	CCT7	73331927	0.765000	0.28485	1.000000	0.80357	0.993000	0.82548	-0.035000	0.12205	1.365000	0.46057	0.655000	0.94253	TAC		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			24	81	0	0	0	1	0	24	81					G	73478419	C	G	73478419	4	3	260	1	0	0	0	0	0	1	0	0	2959	576	20	4	1311	4	CCT7	2	73478419	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		73478419	169720954	4	29089											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			13	55	0	0	0	1	0	13	55					T	209113112	C	T	209113112	3	4	260	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	135634693	209113112	34086261	5	29090											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-													ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga							TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					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.E109del(3)|p.G106_R108del(1)		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)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	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						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		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.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.34	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	38						9	38	---	---	---	---	-	178916940	GAA	-	178916938	7	5	260	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HT-7620-01A-11D-2253-08		178916938	19105492	6	29091											
KLHL5	51088	broad.mit.edu	37	chr4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacttcttacttgggtcCgtcatgatttggaacagaga	10	8	2	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:39088270C>T	ENST00000504108.1	+	5	1457	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000261425.3_Missense_Mutation_p.R346C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	392						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						TACTTGGGTCCGTCATGATTT	0.388																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1036-1038)Cgt>Tgt		kelch-like family member 5							111	105	107					4																	39088270		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39088270C>T	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.1174C>T	4.37:g.39088270C>T	ENSP00000423897:p.Arg392Cys					KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C	p.R346C	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			6	1188	+			392					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.1036C>T	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744383	0.69418	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.36	5.36	0.76844	BTB/Kelch-associated (2);	0.153324	0.64402	D	0.000013	D	0.85164	0.5634	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.71414	0.894;0.973;0.954	D	0.87043	0.2142	10	0.87932	D	0	.	19.0857	0.93202	0.0:1.0:0.0:0.0	.	331;392;392	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	C	426;346;205;392;392;392;331	ENSP00000261425:R346C;ENSP00000423080:R205C;ENSP00000423897:R392C;ENSP00000352716:R392C;ENSP00000371355:R392C;ENSP00000261426:R331C	ENSP00000261425:R346C	R	+	1	0	KLHL5	38764665	0.934000	0.31675	0.998000	0.56505	0.994000	0.84299	1.986000	0.40677	2.513000	0.84729	0.484000	0.47621	CGT		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			5	42	0	0	0	1	0	5	42					T	39088270	C	T	39088270	3	4	260	1	0	0	0	0	1	0	0	0	8392	652	23	1	1192	1	KLHL5	4	39088270	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		39088270	152066006	7	29092											
CAMK2D	817	broad.mit.edu	37	chr4	114436309	114436309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttattgatgaggtctttGgcttcaggagtcaccgtgtc	11	7	3	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:114436309G>A	ENST00000342666.5	-	10	734	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000454265.2_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|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 the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGAGGTCTTTGGCTTCAGGAG	0.398																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(733-735)gcC>gcT		calcium/calmodulin-dependent protein kinase II delta							179	166	171					4																	114436309		2203	4300	6503	SO:0001819	synonymous_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114436309G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.735C>T	4.37:g.114436309G>A						CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000342666.5_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A	p.A245A			Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	10	1593	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	245			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	c.735C>T	CCDS3703.1																																																																																				0.398	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			15	64	0	0	0	1	0	15	64					A	114436309	G	A	114436309	2	1	260	1	0	0	0	0	0	0	0	1	2601	1335	47	2		2	CAMK2D	4	114436309	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08	75348039	114436309	76717967	8	29093											
SRD5A1	6715	broad.mit.edu	37	chr5	6663021	6663021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggtctgtccaaggcGcggcttttgctttcttcacg	11	13	3	0	rs200332603		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:6663021G>A	ENST00000274192.5	+	4	889	c.655G>A	c.(655-657)Gcg>Acg	p.A219T	SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	219					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TGTCCAAGGCGCGGCTTTTGC	0.408																																						ENST00000274192.5																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(655-657)Gcg>Acg		steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	Dutasteride(DB01126)|Finasteride(DB01216)	G	THR/ALA	0,4406		0,0,2203	129	122	124		655	-1	0	5		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	SRD5A1	NM_001047.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	219/260	6663021	2,13004	2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6663021G>A	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.655G>A	5.37:g.6663021G>A	ENSP00000274192:p.Ala219Thr					SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T|SRD5A1_ENST00000537411.1_3'UTR	p.A219T	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN			4	889	+			219					B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.655G>A	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167367	0.21621	0.0	2.33E-4	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.30182	1.54;1.54	4.66	-1.02	0.10135	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.912074	0.09367	N	0.811875	T	0.15089	0.0364	L	0.33624	1.015	0.09310	N	1	P;B	0.38280	0.625;0.265	B;B	0.30716	0.119;0.041	T	0.17410	-1.0370	10	0.22706	T	0.39	-12.9582	2.3142	0.04194	0.1658:0.1198:0.4535:0.2609	.	172;219	F5GXK9;P18405	.;S5A1_HUMAN	T	219;172	ENSP00000274192:A219T;ENSP00000440186:A172T	ENSP00000274192:A219T	A	+	1	0	SRD5A1	6716021	0.010000	0.17322	0.000000	0.03702	0.002000	0.02628	1.719000	0.38011	-0.163000	0.10946	0.655000	0.94253	GCG		0.408	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047		22	69	0	0	0	1	0	22	69					A	6663021	G	A	6663021	3	1	260	1	0	0	0	0	1	0	0	0	15137	1087	38	1	669	1	SRD5A1	5	6663021	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		6663021	174252239	9	29094											
GRIA1	2890	broad.mit.edu	37	chr5	153175109	153175109	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaaagcaaatggtggTacgataaaggggaatgtgga	15	3	0	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:153175109T>C	ENST00000285900.5	+	14	2728				GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.Y782H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|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)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAAATGGTGGTACGATAAAGG	0.473																																						ENST00000340592.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2344-2346)Tac>Cac		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						205	177	186					5																	153175109		692	1591	2283	SO:0001627	intron_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153175109T>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2385+814T>C	5.37:g.153175109T>C						GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000285900.5_Intron	p.Y782H	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2417	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	782					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2344T>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661499	0.67700	.	.	ENSG00000155511	ENST00000544403;ENST00000340592;ENST00000448073	T;T	0.38401	1.14;1.14	5.57	5.57	0.84162	.	.	.	.	.	T	0.56426	0.1984	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56456	-0.7976	9	0.49607	T	0.09	.	14.9036	0.70699	0.0:0.0:0.0:1.0	.	792;782	B7Z9G9;P42261-2	.;.	H	782;782;792	ENSP00000339343:Y782H;ENSP00000415569:Y792H	ENSP00000339343:Y782H	Y	+	1	0	GRIA1	153155302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.796000	0.85898	2.112000	0.64535	0.460000	0.39030	TAC		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			8	34	0	0	0	1	0	8	34					C	153175109	T	C	153175109	1	2	260	0	1	0	0	0	0	0	0	0	6767	1638	57	3		3	GRIA1	5	153175109	Intron	SNP	T	TCGA-HT-7620-01A-11D-2253-08	146512088	153175109	27740151	10	29095											
SLC34A1	6569	broad.mit.edu	37	chr5	176825109	176825109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgggacttcctgcctcGctggatgcactccctgaagc	11	14	0	1	rs372860328		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:176825109G>A	ENST00000324417.5	+	13	1833	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	581					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	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)			TTCCTGCCTCGCTGGATGCAC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16739	0.0		0.0	False		,,,				2504	0.0					ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1741-1743)cGc>cAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	67	66		1742	-9.7	0	5		66	0,8600		0,0,4300	no	missense	SLC34A1	NM_003052.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	581/640	176825109	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176825109G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1742G>A	5.37:g.176825109G>A	ENSP00000321424:p.Arg581His					SLC34A1_ENST00000513614.1_3'UTR	p.R581H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1833	+	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)	581					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1742G>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.389012	0.04932	2.27E-4	0.0	ENSG00000131183	ENST00000324417	T	0.30714	1.52	5.34	-9.73	0.00512	.	1.184600	0.05799	N	0.611841	T	0.14442	0.0349	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21008	-1.0258	10	0.15499	T	0.54	-21.7511	0.8971	0.01266	0.3999:0.1955:0.2003:0.2043	.	581	Q06495	NPT2A_HUMAN	H	581	ENSP00000321424:R581H	ENSP00000321424:R581H	R	+	2	0	SLC34A1	176757715	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.879000	0.00716	-2.150000	0.00796	-0.538000	0.04264	CGC		0.667	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		13	53	0	0	0	1	0	13	53					A	176825109	G	A	176825109	3	1	260	1	0	0	0	0	1	0	0	0	14567	1087	38	1	1879	1	SLC34A1	5	176825109	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	23650000	176825109	4090151	11	29096											
SCAND3	114821	broad.mit.edu	37	chr6	28540669	28540669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttctcgatgaatgaaGcaatgtgttgttttacattc	8	6	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:28540669G>A	ENST00000452236.2	-	4	3614	c.2997C>T	c.(2995-2997)tgC>tgT	p.C999C		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						gatgaatgaagcaatgtgttg	0.328																																						ENST00000452236.2																			0				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						c.(2995-2997)tgC>tgT		SCAN domain containing 3							88	90	89					6																	28540669		2202	4300	6502	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540669G>A																												ENST00000452236.2:c.2997C>T	6.37:g.28540669G>A							p.C999C	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3614	-			999						Silent	SNP	ENST00000452236.2	37	c.2997C>T	CCDS34355.1																																																																																				0.328	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			13	67	0	0	0	1	0	13	67					A	28540669	G	A	28540669	2	1	260	1	0	0	0	0	0	0	0	1	13876	963	34	2		2	SCAND3	6	28540669	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08		28540669	142574398	12	29097											
TFAP2B	7021	broad.mit.edu	37	chr6	50807962	50807962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatttgaaccggcagcacaCagacccgagtgacctgcact	10	13	0	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:50807962C>A	ENST00000393655.3	+	6	1203	c.1034C>A	c.(1033-1035)aCa>aAa	p.T345K	TFAP2B_ENST00000263046.4_Missense_Mutation_p.T354K	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	345					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCAGCACACAGACCCGAGT	0.517																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1060-1062)aCa>aAa		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							108	111	110					6																	50807962		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807962C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1034C>A	6.37:g.50807962C>A	ENSP00000377265:p.Thr345Lys					TFAP2B_ENST00000393655.3_Missense_Mutation_p.T345K	p.T354K			Q92481	AP2B_HUMAN			7	1227	+	Lung NSC(77;0.156)		345					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1061C>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009428	0.75046	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.051467	0.85682	D	0.000000	D	0.93462	0.7914	L	0.55103	1.725	0.80722	D	1	P	0.34587	0.458	B	0.38056	0.264	D	0.92429	0.5952	10	0.20046	T	0.44	-13.0312	19.7769	0.96398	0.0:1.0:0.0:0.0	.	345	Q92481	AP2B_HUMAN	K	345;354	ENSP00000377265:T345K;ENSP00000263046:T354K	ENSP00000263046:T354K	T	+	2	0	TFAP2B	50915921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	ACA		0.517	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		12	72	1	0	7.03913e-09	1	7.24024e-09	12	72					A	50807962	C	A	50807962	3	1	260	1	0	0	0	0	1	0	0	0	15785	478	17	4	1056	4	TFAP2B	6	50807962	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	22267293	50807962	120307105	13	29098											
LAMA2	3908	broad.mit.edu	37	chr6	129823889	129823889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagtcacattgcaattgCatttgatgacaccaaagtta	6	8	1	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:129823889C>T	ENST00000421865.2	+	59	8379	c.8330C>T	c.(8329-8331)gCa>gTa	p.A2777V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2777	Laminin G-like 4. {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)		ATTGCAATTGCATTTGATGAC	0.408																																						ENST00000421865.2																			0				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						c.(8329-8331)gCa>gTa		laminin, alpha 2							96	90	92					6																	129823889		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129823889C>T	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.8330C>T	6.37:g.129823889C>T	ENSP00000400365:p.Ala2777Val						p.A2777V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	59	8379	+			2777			Laminin G-like 4.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8330C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445118	0.63178	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.69561	-0.41	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.151028	0.64402	D	0.000017	T	0.53850	0.1822	L	0.59436	1.845	0.58432	D	0.999997	B;B	0.17268	0.021;0.021	B;B	0.06405	0.002;0.002	T	0.49670	-0.8915	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	2778;2777	A6NF00;P24043	.;LAMA2_HUMAN	V	2777;2776;2777;795	ENSP00000400365:A2777V	.	A	+	2	0	LAMA2	129865582	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	GCA		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			6	36	0	0	0	1	0	6	36					T	129823889	C	T	129823889	3	4	260	1	0	0	0	0	1	0	0	0	8606	710	25	2	8564	2	LAMA2	6	129823889	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	79015927	129823889	41291178	14	29099											
ANKRD30A	91074	broad.mit.edu	37	chr10	37419199	37419199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgccgatataaatctcGtagatgtgtatggcaacacg	11	8	1	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:37419199G>A	ENST00000602533.1	+	3	334	c.235G>A	c.(235-237)Gta>Ata	p.V79I	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	135					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V79I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAAATCTCGTAGATGTGTA	0.423																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.V79I(1)	endometrium(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(235-237)Gta>Ata		ankyrin repeat domain 30A							91	80	83					10																	37419199		1882	4125	6007	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37419199G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.235G>A	10.37:g.37419199G>A	ENSP00000473551:p.Val79Ile					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V79I	p.V79I			Q9BXX3	AN30A_HUMAN			3	334	+			135					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.235G>A		.	.	.	.	.	.	.	.	.	.	.	6.007	0.369765	0.11352	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.64803	-0.12;-0.12	2.0	-3.88	0.04205	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.60366	0.2263	L	0.39085	1.19	0.09310	N	1	D	0.59357	0.985	D	0.65874	0.939	T	0.54118	-0.8341	9	0.19590	T	0.45	.	6.8928	0.24238	0.5216:0.0:0.4784:0.0	.	135	Q9BXX3	AN30A_HUMAN	I	79	ENSP00000354432:V79I;ENSP00000363792:V79I	ENSP00000354432:V79I	V	+	1	0	ANKRD30A	37459205	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.448000	0.21726	-0.900000	0.03896	-0.849000	0.03036	GTA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	36	0	0	0	1	0	7	36					A	37419199	G	A	37419199	3	1	260	1	0	0	0	0	1	0	0	0	658	1145	40	1	245	1	ANKRD30A	10	37419199	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		37419199	98115548	15	29100											
FOXM1	2305	broad.mit.edu	37	chr12	2968215	2968215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctactttggctgggggCgtgagcctccaggattcagg	14	13	1	1	rs374998139		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:2968215C>T	ENST00000359843.3	-	9	1949	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Silent_p.T665T|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Silent_p.T612T|ITFG2_ENST00000545509.1_Intron	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	627					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1993-1995)acG>acA		forkhead box M1		C	,,	1,4405		0,1,2202	52	61	58		1881,1995,1836	-1	1	12		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	627/764,665/802,612/749	2968215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968215C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1881G>A	12.37:g.2968215C>T						FOXM1_ENST00000361953.3_Silent_p.T612T|FOXM1_ENST00000359843.3_Silent_p.T627T|ITFG2_ENST00000545509.1_Intron	p.T665T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2108	-			627					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.1995G>A	CCDS8515.1																																																																																				0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		18	83	0	0	0	1	0	18	83					T	2968215	C	T	2968215	2	4	260	1	0	0	0	0	0	0	0	1	6018	755	27	1		1	FOXM1	12	2968215	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		2968215	130883680	16	29101											
USP30	84749	broad.mit.edu	37	chr12	109519737	109519737	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcttctcatgctgtaGggtcacccattgaccctgga	8	12	4	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:109519737G>A	ENST00000257548.5	+	9	873		c.e9-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATGCTGTAGGGTCACCCAT	0.428																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.e9-1		ubiquitin specific peptidase 30							208	183	191					12																	109519737		2203	4300	6503	SO:0001630	splice_region_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109519737G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"Ubiquitin-specific peptidases"	20065	protein-coding gene	gene with protein product		612492	"ubiquitin specific protease 30"			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.781-1G>A	12.37:g.109519737G>A						USP30_ENST00000392784.2_Splice_Site		NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			9	873	+								Q8WTU7|Q96JX4|Q9BSS3	Splice_Site	SNP	ENST00000257548.5	37		CCDS9123.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141753	0.77775	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.329	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP30	108004120	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	8.844000	0.92147	2.640000	0.89533	0.455000	0.32223	.		0.428	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	Intron	25	109	0	0	0	1	0	25	109					A	109519737	G	A	109519737	5	1	260	1	0	0	0	0	0	0	1	0	17058	1014	35	2	814	2	USP30	12	109519737	Splice_Site	SNP	G	TCGA-HT-7620-01A-11D-2253-08	106551522	109519737	24332158	17	29102											
CYP1A2	1544	broad.mit.edu	37	chr15	75042314	75042314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggggacgtcctgcagatcCgcattggctccacgcccgtg	13	15	0	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:75042314C>T	ENST00000343932.4	+	2	298	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	79				R -> S (in Ref. 2; AAA35738). {ECO:0000305}.	alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CCTGCAGATCCGCATTGGCTC	0.672																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(235-237)Cgc>Tgc		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						56	50	52					15																	75042314		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042314C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.235C>T	15.37:g.75042314C>T	ENSP00000342007:p.Arg79Cys						p.R79C	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	298	+			79	R -> S (in Ref. 2; AAA35738).				Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.235C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530221	0.85706	.	.	ENSG00000140505	ENST00000343932	T	0.80393	-1.37	4.98	4.98	0.66077	.	0.174050	0.51477	D	0.000083	D	0.91640	0.7358	H	0.94620	3.56	0.54753	D	0.999985	D	0.76494	0.999	D	0.64687	0.928	D	0.93655	0.6976	10	0.87932	D	0	.	14.9063	0.70721	0.1434:0.8566:0.0:0.0	.	79	P05177-2	.	C	79	ENSP00000342007:R79C	ENSP00000342007:R79C	R	+	1	0	CYP1A2	72829367	0.999000	0.42202	1.000000	0.80357	0.934000	0.57294	3.045000	0.49838	2.580000	0.87095	0.561000	0.74099	CGC		0.672	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		12	32	0	0	0	1	0	12	32					T	75042314	C	T	75042314	3	4	260	1	0	0	0	0	1	0	0	0	4150	652	23	1	237	1	CYP1A2	15	75042314	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		75042314	27489078	18	29103											
USP31	57478	broad.mit.edu	37	chr16	23080559	23080559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacactggagttcaatctgCgggtgtccgattcgtctttg	12	10	3	0			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:23080559C>T	ENST00000219689.7	-	16	2866	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	USP31_ENST00000567975.1_Missense_Mutation_p.R249H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				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)		GTTCAATCTGCGGGTGTCCGA	0.552																																						ENST00000219689.7																			0				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						c.(2866-2868)cGc>cAc		ubiquitin specific peptidase 31							87	90	89					16																	23080559		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080559C>T	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.2867G>A	16.37:g.23080559C>T	ENSP00000219689:p.Arg956His					USP31_ENST00000567975.1_Missense_Mutation_p.R249H	p.R956H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2866	-			956			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2867G>A	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	6.421	0.445806	0.12164	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.09630	2.96	6.06	0.813	0.18749	.	1.580620	0.04676	N	0.411560	T	0.11067	0.0270	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18013	0.025;0.002;0.009	B;B;B	0.11329	0.004;0.001;0.006	T	0.39396	-0.9616	10	0.46703	T	0.11	0.0171	9.7226	0.40313	0.0:0.6051:0.0:0.3949	.	259;956;249	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	H	956;259	ENSP00000219689:R956H	ENSP00000219689:R956H	R	-	2	0	USP31	22988060	0.086000	0.21541	0.001000	0.08648	0.397000	0.30659	1.312000	0.33574	0.167000	0.19631	-0.143000	0.13931	CGC		0.552	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	113	0	0	0	1	0	12	113					T	23080559	C	T	23080559	3	4	260	1	0	0	0	0	1	0	0	0	17059	768	27	1	1195	1	USP31	16	23080559	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		23080559	67274194	19	29104											
PRSS54	221191	broad.mit.edu	37	chr16	58324928	58324928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatgcagccgaaagccagGtgtgtgtactgggagtcctg	16	8	0	0			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:58324928G>T	ENST00000219301.4	-	4	592	c.198C>A	c.(196-198)caC>caA	p.H66Q	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	66	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAAAGCCAGGTGTGTGTACT	0.607																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(196-198)caC>caA		protease, serine, 54							108	86	93					16																	58324928		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324928G>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.198C>A	16.37:g.58324928G>T	ENSP00000219301:p.His66Gln					PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q|PRSS54_ENST00000543437.1_Intron	p.H66Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			4	592	-			66			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.198C>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581657	0.65992	.	.	ENSG00000103023	ENST00000219301	T	0.61158	0.13	5.85	1.34	0.21922	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000009	T	0.71937	0.3399	M	0.84219	2.685	0.31686	N	0.642523	D	0.89917	1.0	D	0.91635	0.999	T	0.72304	-0.4333	10	0.87932	D	0	-26.6416	6.3244	0.21234	0.45:0.0:0.55:0.0	.	66	Q6PEW0	PRS54_HUMAN	Q	66	ENSP00000219301:H66Q	ENSP00000219301:H66Q	H	-	3	2	PRSS54	56882429	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	0.714000	0.25808	0.408000	0.25621	-0.137000	0.14449	CAC		0.607	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		12	59	1	0	1.02788e-11	1	1.08835e-11	12	59					T	58324928	G	T	58324928	3	4	260	1	0	0	0	0	1	0	0	0	12633	1252	44	4	1005	4	PRSS54	16	58324928	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	35244369	58324928	32029825	20	29105											
YBX2	51087	broad.mit.edu	37	chr17	7197580	7197581	+	Frame_Shift_Ins	INS	-	-	G													tgtccgcctgactccgggccINSgggggggcgggggttcccga					rs189257850	byFrequency	TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr17:7197580_7197581insG	ENST00000007699.5	-	1	302_303	c.239_240insC	c.(238-240)ccgfs	p.P80fs	YBX2_ENST00000570627.1_Intron	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	80					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GACTCCGGGCCGGGGGGGCGGG	0.802																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(238-240)cgcfs		Y box binding protein 2																																				SO:0001589	frameshift_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7197580_7197581insG	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.240dupC	17.37:g.7197587_7197587dupG	ENSP00000007699:p.Pro80fs					YBX2_ENST00000570627.1_Intron	p.R80fs	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			1	302_303	-			80					D3DTP1|Q8N4P0	Frame_Shift_Ins	INS	ENST00000007699.5	37	c.239_240insC	CCDS11098.1																																																																																				0.802	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		2	4						2	4	---	---	---	---	G	7197581	-	G	7197580	7	5	260	1	0	1	1	0	0	0	0	0	17467	639	23	0	886	0	YBX2	17	7197580	Frame_Shift_Ins	INS	-	TCGA-HT-7620-01A-11D-2253-08		7197580	73997630	21	29106											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					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.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	57	0	0	0	1	0	4	57					A	12575498	G	A	12575498	3	1	260	1	0	0	0	0	1	0	0	0	18110	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		12575498	46553485	22	29107											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704396	56704396	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggtcctccctgacccCatgagagtgtccaatttgca	10	13	0	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:56704396C>T	ENST00000586855.2	-	2	339	c.26G>A	c.(25-27)tGg>tAg	p.W9*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	9					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)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCTGACCCCATGAGAGTGT	0.502																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(25-27)tGg>tAg		zinc finger and SCAN domain containing 5B							35	30	31					19																	56704396		692	1591	2283	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704396C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.26G>A	19.37:g.56704396C>T	ENSP00000466072:p.Trp9*					ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9*	p.W9*			A6NJL1	ZSA5B_HUMAN			2	339	-			9						Nonsense_Mutation	SNP	ENST00000586855.2	37	c.26G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872705	0.33069	.	.	ENSG00000197213	ENST00000358992	.	.	.	1.02	-1.4	0.08968	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.013	0.09631	0.0:0.5199:0.0:0.4801	.	.	.	.	X	9	.	ENSP00000351883:W9X	W	-	2	0	ZSCAN5B	61396208	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.400000	0.07241	-0.454000	0.07066	0.313000	0.20887	TGG		0.502	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		2	2	0	0	0	1	0	2	2					T	56704396	C	T	56704396	4	4	260	1	0	0	0	0	0	1	0	0	18236	595	21	2	1477	2	ZSCAN5B	19	56704396	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	44128898	56704396	2424587	23	29108											
DHX35	60625	broad.mit.edu	37	chr20	37634881	37634881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgaaactccgagcctaCaatcccaggacagctattga	8	11	0	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr20:37634881C>T	ENST00000252011.3	+	12	1137	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	368	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCGAGCCTACAATCCCAGGA	0.522																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1102-1104)taC>taT		DEAH (Asp-Glu-Ala-His) box polypeptide 35							276	263	267					20																	37634881		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634881C>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1104C>T	20.37:g.37634881C>T						DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y	p.Y368Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			12	1137	+		Myeloproliferative disorder(115;0.00878)	368			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1104C>T	CCDS13310.1																																																																																				0.522	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		60	239	0	0	0	1	0	60	239					T	37634881	C	T	37634881	2	4	260	1	0	0	0	0	0	0	0	1	4508	489	17	2		2	DHX35	20	37634881	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		37634881	25390639	24	29109											
CLIC2	1193	broad.mit.edu	37	chrX	154508571	154508571	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccagaagtggggtgtttAagtagtcatccagacgcttg	12	8	1	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrX:154508571A>C	ENST00000369449.2	-	5	667	c.449T>G	c.(448-450)tTa>tGa	p.L150*	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	150	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	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)					TGGGGTGTTTAAGTAGTCATC	0.408																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(448-450)tTa>tGa		chloride intracellular channel 2							76	72	73					X																	154508571		2203	4300	6503	SO:0001587	stop_gained	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154508571A>C	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.449T>G	X.37:g.154508571A>C	ENSP00000358460:p.Leu150*					CLIC2_ENST00000465553.1_5'UTR	p.L150*	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			5	667	-	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)		150			C-terminal.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Nonsense_Mutation	SNP	ENST00000369449.2	37	c.449T>G	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	a	23.6	4.435549	0.83885	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0976	11.2289	0.48901	1.0:0.0:0.0:0.0	.	.	.	.	X	150;108	.	ENSP00000318558:L108X	L	-	2	0	CLIC2	154161765	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.400000	0.90200	1.618000	0.50286	0.235000	0.17854	TTA		0.408	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		16	14	0	0	0	1	0	16	14					C	154508571	A	C	154508571	4	2	260	1	0	0	0	0	0	1	0	0	3526	372	13	5	302	5	CLIC2	23	154508571	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		154508571	761989	25	29110											
PAPPA2	60676	broad.mit.edu	37	chr1	176734861	176734861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgctgcttgatcatgCtgatgtggtgaactgtacct	11	8	2	3			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:176734861C>T	ENST00000367662.3	+	15	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1404	Sushi 1. {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						CTTGATCATGCTGATGTGGTG	0.507																																						ENST00000367662.3																			0				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						c.(4210-4212)gCt>gTt		pappalysin 2							190	184	186					1																	176734861		2086	4219	6305	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176734861C>T	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.4211C>T	1.37:g.176734861C>T	ENSP00000356634:p.Ala1404Val						p.A1404V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			15	5375	+			1404			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4211C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676819	0.47886	.	.	ENSG00000116183	ENST00000367662	T	0.01902	4.57	5.69	3.83	0.44106	Sushi/SCR/CCP (1);	0.669438	0.15072	N	0.282137	T	0.04092	0.0114	M	0.64170	1.965	0.09310	N	0.999999	P	0.36282	0.546	B	0.39562	0.303	T	0.31447	-0.9943	10	0.56958	D	0.05	-0.0455	7.6335	0.28253	0.0:0.7023:0.0:0.2977	.	1404	Q9BXP8	PAPP2_HUMAN	V	1404	ENSP00000356634:A1404V	ENSP00000356634:A1404V	A	+	2	0	PAPPA2	175001484	0.000000	0.05858	0.010000	0.14722	0.884000	0.51177	0.779000	0.26746	0.765000	0.33221	0.655000	0.94253	GCT		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	116	0	0	0	1	0	17	116					T	176734861	C	T	176734861	3	4	261	1	0	0	0	0	1	0	0	0	11433	797	28	2	4318	2	PAPPA2	1	176734861	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		176734861	72515760	1	29111											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	41	0	0	0	1	0	28	41					T	209113112	C	T	209113112	3	4	261	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		209113112	34086261	2	29112											
C3orf30	152405	broad.mit.edu	37	chr3	118870094	118870094	+	Frame_Shift_Del	DEL	T	T	-													attactgaaaacttagtctaTgaaaagccagaggaccccct							TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:118870094delT	ENST00000295622.1	+	3	1606	c.1566delT	c.(1564-1566)tatfs	p.Y522fs	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	522										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTTAGTCTATGAAAAGCCAG	0.358																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(1564-1566)tafs		chromosome 3 open reading frame 30							211	224	219					3																	118870094		2203	4300	6503	SO:0001589	frameshift_variant	152405							g.chr3:118870094delT	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1566delT	3.37:g.118870094delT	ENSP00000295622:p.Tyr522fs					RP11-484M3.5_ENST00000490594.1_Intron	p.Y522fs	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	1606	+			522					A1L4B7	Frame_Shift_Del	DEL	ENST00000295622.1	37	c.1566delT	CCDS2984.1																																																																																				0.358	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		12	274						12	274	---	---	---	---	-	118870094	T	-	118870094	7	5	261	1	0	1	0	1	0	0	0	0	2220	1471	51	0	1576	0	C3orf30	3	118870094	Frame_Shift_Del	DEL	T	TCGA-HT-7676-01A-11D-2395-08		118870094	79152336	3	29113											
ETV5	2119	broad.mit.edu	37	chr3	185769871	185769871	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagcggctcagcttgTcatagttcatggctggccgg	16	9	3	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:185769871T>C	ENST00000306376.5	-	12	1505	c.1259A>G	c.(1258-1260)gAc>gGc	p.D420G	ETV5_ENST00000537818.1_Missense_Mutation_p.D462G|ETV5_ENST00000434744.1_Missense_Mutation_p.D420G|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	420					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 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(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCTCAGCTTGTCATAGTTCAT	0.522			T	"TMPRSS2, SCL45A3"	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(1258-1260)gAc>gGc		ets variant 5							142	135	137					3																	185769871		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185769871T>C	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1259A>G	3.37:g.185769871T>C	ENSP00000306894:p.Asp420Gly					ETV5_ENST00000434744.1_Missense_Mutation_p.D420G|ETV5_ENST00000537818.1_Missense_Mutation_p.D462G|ETV5_ENST00000480706.1_5'UTR	p.D420G	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		12	1505	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		420					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.1259A>G	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100555	0.56183	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.60424	0.19;0.19;0.19	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.79713	0.4493	M	0.88241	2.94	0.58432	D	0.999996	D;D	0.76494	0.999;0.998	D;D	0.79108	0.992;0.977	D	0.83872	0.0274	10	0.87932	D	0	.	15.0491	0.71850	0.0:0.0:0.0:1.0	.	420;462	P41161;B7Z7D7	ETV5_HUMAN;.	G	420;420;462	ENSP00000306894:D420G;ENSP00000413755:D420G;ENSP00000441737:D462G	ENSP00000306894:D420G	D	-	2	0	ETV5	187252565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.185000	0.69588	0.482000	0.46254	GAC		0.522	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		13	110	0	0	0	1	0	13	110					C	185769871	T	C	185769871	3	2	261	1	0	0	0	0	1	0	0	0	5282	1667	58	3	281	3	ETV5	3	185769871	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08	66899777	185769871	12252559	4	29114											
AHRR	57491	broad.mit.edu	37	chr5	423984	423984	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctatcctggggaggctgctCagggcccaggagtggggcac	18	11	1	0			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr5:423984C>G	ENST00000505113.1	+	7	656	c.612C>G	c.(610-612)ctC>ctG	p.L204L	AHRR_ENST00000512529.1_Silent_p.L50L|AHRR_ENST00000316418.5_Silent_p.L204L|AHRR_ENST00000506456.1_Silent_p.L60L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	204					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAGGCTGCTCAGGGCCCAGG	0.652																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(610-612)ctC>ctG		aryl-hydrocarbon receptor repressor							38	45	43					5																	423984		2083	4205	6288	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:423984C>G	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.612C>G	5.37:g.423984C>G						AHRR_ENST00000505113.1_Silent_p.L204L|AHRR_ENST00000512529.1_Silent_p.L50L|AHRR_ENST00000506456.1_Silent_p.L60L	p.L204L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	656	+			204					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.612C>G	CCDS56355.1																																																																																				0.652	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		46	47	0	0	0	1	0	46	47					G	423984	C	G	423984	2	3	261	1	0	0	0	0	0	0	0	1	417	813	29	4		4	AHRR	5	423984	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		423984	180491276	5	29115											
KIAA1009	22832	broad.mit.edu	37	chr6	84896080	84896080	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcctgagataatgaTgaagaattaacagttatttt	7	4	1	4			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:84896080T>C	ENST00000403245.3	-	12	1485	c.1371A>G	c.(1369-1371)tcA>tcG	p.S457S	KIAA1009_ENST00000257766.4_Silent_p.S381S|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAGATAATGATGAAGAATTAA	0.279																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1369-1371)tcA>tcG		KIAA1009							55	58	57					6																	84896080		2202	4290	6492	SO:0001819	synonymous_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896080T>C																												ENST00000403245.3:c.1371A>G	6.37:g.84896080T>C						KIAA1009_ENST00000257766.4_Silent_p.S381S|KIAA1009_ENST00000461137.1_5'UTR	p.S457S	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1485	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	457						Silent	SNP	ENST00000403245.3	37	c.1371A>G	CCDS34494.2																																																																																				0.279	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			18	34	0	0	0	1	0	18	34					C	84896080	T	C	84896080	2	2	261	1	0	0	0	0	0	0	0	1	8203	1451	51	3		3	KIAA1009	6	84896080	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08		84896080	86218987	6	29116											
ZDHHC14	79683	broad.mit.edu	37	chr6	158014166	158014166	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cctcccattgcagcctttgtGataactgcgtaggtgagtag	11	10	0	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:158014166G>C	ENST00000359775.5	+	3	1442	c.553G>C	c.(553-555)Gat>Cat	p.D185H	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.D185H			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	185					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CAGCCTTTGTGATAACTGCGT	0.582																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(553-555)Gat>Cat		zinc finger, DHHC-type containing 14							59	61	60					6																	158014166		2203	4298	6501	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158014166G>C	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.553G>C	6.37:g.158014166G>C	ENSP00000352821:p.Asp185His					ZDHHC14_ENST00000414563.2_Missense_Mutation_p.D185H|ZDHHC14_ENST00000341375.8_3'UTR	p.D185H			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	3	1442	+		Breast(66;0.00586)|Ovarian(120;0.123)	185					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.553G>C	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034673	0.93575	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.24538	1.85;1.85	5.52	5.52	0.82312	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.56093	0.1962	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.69269	-0.5189	10	0.87932	D	0	-9.0036	19.4562	0.94892	0.0:0.0:1.0:0.0	.	189;185;185	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	H	185;185;189	ENSP00000352821:D185H;ENSP00000410713:D185H	ENSP00000352821:D185H	D	+	1	0	ZDHHC14	157934154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.348000	0.97062	2.091000	0.63221	0.533000	0.62120	GAT		0.582	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		4	84	0	0	0	1	0	4	84					C	158014166	G	C	158014166	3	2	261	1	0	0	0	0	1	0	0	0	17601	1290	45	4	563	4	ZDHHC14	6	158014166	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	73118086	158014166	13100901	7	29117											
ZNF704	619279	broad.mit.edu	37	chr8	81577128	81577128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtcatcaacttagtctcCgttttggcacaaggagtttc	10	10	3	0			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:81577128C>T	ENST00000327835.3	-	6	1080	c.849G>A	c.(847-849)acG>acA	p.T283T	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	283							metal ion binding (GO:0046872)	p.T283T(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACTTAGTCTCCGTTTTGGCAC	0.577																																						ENST00000327835.3																			1	Substitution - coding silent(1)	p.T283T(1)	lung(1)	lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(847-849)acG>acA		zinc finger protein 704							146	129	135					8																	81577128		2203	4300	6503	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81577128C>T	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.849G>A	8.37:g.81577128C>T							p.T283T	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		6	1080	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		283					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.849G>A	CCDS34913.1																																																																																				0.577	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		52	80	0	0	0	1	0	52	80					T	81577128	C	T	81577128	2	4	261	1	0	0	0	0	0	0	0	1	18104	639	23	1		1	ZNF704	8	81577128	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		81577128	64786894	8	29118											
FER1L6	654463	broad.mit.edu	37	chr8	125113341	125113341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaatctatttttaggtgGttaaagggcttggaggatga	13	2	1	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:125113341G>T	ENST00000522917.1	+	38	5093	c.4887G>T	c.(4885-4887)tgG>tgT	p.W1629C	FER1L6_ENST00000399018.1_Missense_Mutation_p.W1629C|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1629	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGTGGTTAAAGGGCT	0.408																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4885-4887)tgG>tgT		fer-1-like 6 (C. elegans)							77	77	77					8																	125113341		2032	4237	6269	SO:0001583	missense	654463					integral to membrane		g.chr8:125113341G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4887G>T	8.37:g.125113341G>T	ENSP00000428280:p.Trp1629Cys					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W1629C	p.W1629C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		38	5093	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1629			C2 6.			Missense_Mutation	SNP	ENST00000522917.1	37	c.4887G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702458	0.48307	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83755	-1.76;-1.76	5.71	5.71	0.89125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.94305	0.8170	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95380	0.8472	10	0.87932	D	0	-12.5169	19.8545	0.96752	0.0:0.0:1.0:0.0	.	1629	Q2WGJ9	FR1L6_HUMAN	C	1629	ENSP00000428280:W1629C;ENSP00000381982:W1629C	ENSP00000381982:W1629C	W	+	3	0	FER1L6	125182522	1.000000	0.71417	0.998000	0.56505	0.005000	0.04900	9.869000	0.99810	2.695000	0.91970	0.563000	0.77884	TGG		0.408	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		21	36	1	0	2.27731e-05	1	2.27731e-05	21	36					T	125113341	G	T	125113341	3	4	261	1	0	0	0	0	1	0	0	0	5815	1270	44	4	5033	4	FER1L6	8	125113341	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	43536213	125113341	21250681	9	29119											
OR13A1	79290	broad.mit.edu	37	chr10	45799361	45799361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggccgtgttgacggcGcagagcagccacacggctgt	16	11	0	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr10:45799361G>A	ENST00000553795.1	-	4	818	c.510C>T	c.(508-510)tgC>tgT	p.C170C	OR13A1_ENST00000374401.2_Silent_p.C170C|OR13A1_ENST00000536058.1_Silent_p.C170C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	170						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(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTTGACGGCGCAGAGCAGCC	0.607																																						ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(508-510)tgC>tgT		olfactory receptor, family 13, subfamily A, member 1							31	34	33					10																	45799361		2195	4294	6489	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799361G>A	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.510C>T	10.37:g.45799361G>A						OR13A1_ENST00000374401.2_Silent_p.C170C|OR13A1_ENST00000536058.1_Silent_p.C170C	p.C170C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	818	-			170					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.510C>T	CCDS31188.1																																																																																				0.607	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		35	52	0	0	0	1	0	35	52					A	45799361	G	A	45799361	2	1	261	1	0	0	0	0	0	0	0	1	10933	1079	38	1		1	OR13A1	10	45799361	Silent	SNP	G	TCGA-HT-7676-01A-11D-2395-08		45799361	89735386	10	29120											
FOXR1	283150	broad.mit.edu	37	chr11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatagaaagcacttccccTttttccggacggccccggaa	8	15	0	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:118851213T>C	ENST00000317011.3	+	5	850	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	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)		GCACTTCCCCTTTTTCCGGAC	0.562																																						ENST00000317011.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(625-627)Ttt>Ctt		forkhead box R1							61	66	64					11																	118851213		2200	4295	6495	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118851213T>C	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.625T>C	11.37:g.118851213T>C	ENSP00000314806:p.Phe209Leu						p.F209L	NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	850	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	209					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.625T>C	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318699	0.81469	.	.	ENSG00000176302	ENST00000317011;ENST00000533282	D	0.95980	-3.87	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98561	1.0641	10	0.87932	D	0	.	13.424	0.61015	0.0:0.0:0.0:1.0	.	209	Q6PIV2	FOXR1_HUMAN	L	209;114	ENSP00000314806:F209L	ENSP00000314806:F209L	F	+	1	0	FOXR1	118356423	1.000000	0.71417	0.996000	0.52242	0.219000	0.24729	6.447000	0.73465	2.051000	0.60960	0.455000	0.32223	TTT		0.562	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		5	157	0	0	0	1	0	5	157					C	118851213	T	C	118851213	3	2	261	1	0	0	0	0	1	0	0	0	6031	1609	56	3	643	3	FOXR1	11	118851213	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		118851213	16155303	11	29121											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G													cccccacagggagtggcggtINSggccttggggggtgatggca							TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2329-2331)ggcfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745490_124745491insG	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2332dupG	11.37:g.124745492_124745492dupG	ENSP00000380903:p.Ala778fs					ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	p.G777fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	15	2522_2523	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	777			Fibronectin type-III 3.			Frame_Shift_Ins	INS	ENST00000397801.1	37	c.2330_2331insG	CCDS44755.1																																																																																				0.604	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		8	65						8	65	---	---	---	---	G	124745491	-	G	124745490	7	5	261	1	0	1	1	0	0	0	0	0	13515	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-HT-7676-01A-11D-2395-08	5894277	124745490	10261026	12	29122											
SILV	6490	broad.mit.edu	37	chr12	56351068	56351068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggctctgcagttggcGcctgaccaggtgtagtaccc	14	12	1	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:56351068G>A	ENST00000548747.1	-	6	1681	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Missense_Mutation_p.A254V|PMEL_ENST00000552882.1_Missense_Mutation_p.A340V|PMEL_ENST00000360714.4_Missense_Mutation_p.A340V|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000548493.1_Missense_Mutation_p.A340V|PMEL_ENST00000550464.1_Missense_Mutation_p.A254V|PMEL_ENST00000449260.2_Missense_Mutation_p.A340V|PMEL_ENST00000536427.1_Missense_Mutation_p.A340V			P40967	PMEL_HUMAN	premelanosome protein	340	10 X 13 AA approximate tandem repeats, RPT domain.				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						TGCAGTTGGCGCCTGACCAGG	0.577																																						ENST00000548747.1																			0				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						c.(1018-1020)gCg>gTg		premelanosome protein							63	58	60					12																	56351068		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351068G>A	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.1019C>T	12.37:g.56351068G>A	ENSP00000448828:p.Ala340Val					PMEL_ENST00000548493.1_Missense_Mutation_p.A340V|PMEL_ENST00000536427.1_Missense_Mutation_p.A340V|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.A340V|PMEL_ENST00000550464.1_Missense_Mutation_p.A254V|PMEL_ENST00000539511.1_Missense_Mutation_p.A254V|PMEL_ENST00000360714.4_Missense_Mutation_p.A340V|PMEL_ENST00000552882.1_Missense_Mutation_p.A340V	p.A340V			P40967	PMEL_HUMAN			6	1681	-			340			10 X 13 AA approximate tandem repeats, RPT domain.		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.1019C>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.972421	0.00457	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000548803;ENST00000547137;ENST00000546543	T;T;T;T;T;T;T;T;T;T;T	0.22743	3.19;3.2;3.2;3.2;3.2;3.19;2.85;3.2;1.94;2.64;3.29	5.43	-0.081	0.13704	.	1.033240	0.07686	N	0.937916	T	0.04497	0.0123	N	0.00413	-1.525	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.38373	-0.9664	10	0.02654	T	1	-7.9895	7.148	0.25593	0.4819:0.4379:0.0802:0.0	.	254;340;340	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	V	340;340;254;340;340;340;340;254;191;286;291	ENSP00000402758:A340V;ENSP00000449690:A340V;ENSP00000450036:A254V;ENSP00000448828:A340V;ENSP00000447374:A340V;ENSP00000353940:A340V;ENSP00000438695:A340V;ENSP00000445005:A254V;ENSP00000447732:A191V;ENSP00000448849:A286V;ENSP00000446662:A291V	ENSP00000353940:A340V	A	-	2	0	PMEL	54637335	0.018000	0.18449	0.016000	0.15963	0.017000	0.09413	1.371000	0.34250	-0.173000	0.10761	-0.578000	0.04140	GCG		0.577	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		28	46	0	0	0	1	0	28	46					A	56351068	G	A	56351068	3	1	261	1	0	0	0	0	1	0	0	0	14322	1087	38	1	990	1	SILV	12	56351068	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		56351068	77500827	13	29123											
DDX51	317781	broad.mit.edu	37	chr12	132624720	132624720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcacgtcgatgcctcgCgcggtggcgtccgtgctgat	14	15	0	1	rs550340511		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:132624720C>T	ENST00000397333.3	-	12	1736	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	566	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CGATGCCTCGCGCGGTGGCGT	0.711																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1696-1698)gcG>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							40	46	44					12																	132624720		2139	4235	6374	SO:0001819	synonymous_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132624720C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1698G>A	12.37:g.132624720C>T							p.A566A	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	12	1736	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	566			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	ENST00000397333.3	37	c.1698G>A	CCDS41865.1																																																																																				0.711	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		34	62	0	0	0	1	0	34	62					T	132624720	C	T	132624720	2	4	261	1	0	0	0	0	0	0	0	1	4369	755	27	1		1	DDX51	12	132624720	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08	76273652	132624720	1227175	14	29124											
GOLGA3	2802	broad.mit.edu	37	chr12	133353247	133353247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtagcccttccagTtccttcctgccctgctgctc	8	17	0	0			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:133353247T>C	ENST00000450791.2	-	20	4134	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000456883.2_Silent_p.E1317E|GOLGA3_ENST00000204726.3_Silent_p.E1317E			Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				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)		GCCCTTCCAGTTCCTTCCTGC	0.567																																						ENST00000204726.3																			0				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						c.(3949-3951)gaA>gaG		golgin A3							93	85	88					12																	133353247		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353247T>C	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.3951A>G	12.37:g.133353247T>C						GOLGA3_ENST00000456883.2_Silent_p.E1317E|GOLGA3_ENST00000450791.2_Silent_p.E1317E	p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4509	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1317			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3951A>G	CCDS9281.1																																																																																				0.567	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	158	0	0	0	1	0	4	158					C	133353247	T	C	133353247	2	2	261	1	0	0	0	0	0	0	0	1	6554	1722	60	3		3	GOLGA3	12	133353247	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08	728527	133353247	498648	15	29125											
TPP2	7174	broad.mit.edu	37	chr13	103328687	103328687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcattagtaaataaaatGtatgggagaggccttaaatt	9	4	0	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr13:103328687G>A	ENST00000376065.4	+	28	3618	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I	TPP2_ENST00000376052.3_Missense_Mutation_p.M1207I|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1194					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)					TAAATAAAATGTATGGGAGAG	0.264																																						ENST00000376052.3																			0				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						c.(3619-3621)atG>atA		tripeptidyl peptidase II							57	57	57					13																	103328687		2199	4294	6493	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103328687G>A	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.3582G>A	13.37:g.103328687G>A	ENSP00000365233:p.Met1194Ile					TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.M1194I	p.M1207I			P29144	TPP2_HUMAN			29	3637	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1194					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.3621G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836504	0.50951	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.8	5.8	0.92144	.	0.073915	0.85682	D	0.000000	T	0.58481	0.2125	L	0.43152	1.355	0.80722	D	1	B	0.23442	0.085	B	0.16722	0.016	T	0.52924	-0.8510	9	0.45353	T	0.12	.	20.0563	0.97651	0.0:0.0:1.0:0.0	.	1194	P29144	TPP2_HUMAN	I	1194;1207	.	ENSP00000365220:M1207I	M	+	3	0	TPP2	102126688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.060000	0.93907	2.746000	0.94184	0.563000	0.77884	ATG		0.264	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			4	26	0	0	0	1	0	4	26					A	103328687	G	A	103328687	3	1	261	1	0	0	0	0	1	0	0	0	16409	1377	48	2	3692	2	TPP2	13	103328687	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		103328687	11841191	16	29126											
PLCB2	5330	broad.mit.edu	37	chr15	40587142	40587142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatgccctcacccatcGtctggaagttgagggcaacc	12	12	2	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:40587142G>A	ENST00000260402.3	-	18	2150	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T634M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T630M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	634	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTCACCCATCGTCTGGAAGTT	0.582																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1900-1902)aCg>aTg		phospholipase C, beta 2							87	92	90					15																	40587142		2188	4299	6487	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40587142G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1901C>T	15.37:g.40587142G>A	ENSP00000260402:p.Thr634Met					PLCB2_ENST00000456256.2_Missense_Mutation_p.T634M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T630M	p.T634M	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	18	2150	-		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)	634			PI-PLC Y-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1901C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822654	0.71028	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.72282	-0.64;-0.64	4.76	3.82	0.43975	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.105878	0.64402	D	0.000004	D	0.89262	0.6665	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.92969	0.6396	10	0.87932	D	0	.	14.6113	0.68517	0.0:0.0:0.853:0.147	.	634;630;634	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	M	634	ENSP00000260402:T634M;ENSP00000411991:T634M	ENSP00000260402:T634M	T	-	2	0	PLCB2	38374434	1.000000	0.71417	0.828000	0.32881	0.711000	0.40976	9.601000	0.98297	1.344000	0.45657	0.655000	0.94253	ACG		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			37	54	0	0	0	1	0	37	54					A	40587142	G	A	40587142	3	1	261	1	0	0	0	0	1	0	0	0	12028	1145	40	1	1716	1	PLCB2	15	40587142	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		40587142	61944250	17	29127											
SNX33	257364	broad.mit.edu	37	chr15	75942786	75942786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatttctcacacgggccGtacctatgaagccatcgggg	11	13	1	1	rs139396216	byFrequency	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:75942786G>A	ENST00000308527.5	+	1	2540	c.1343G>A	c.(1342-1344)cGt>cAt	p.R448H	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	448	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CACACGGGCCGTACCTATGAA	0.567																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1342-1344)cGt>cAt		sorting nexin 33		G	HIS/ARG	0,4394		0,0,2197	153	135	141		1343	4.5	1	15	dbSNP_134	141	4,8584	3.7+/-12.6	0,4,4290	yes	missense	SNX33	NM_153271.1	29	0,4,6487	AA,AG,GG		0.0466,0.0,0.0308	possibly-damaging	448/575	75942786	4,12978	2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75942786G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1343G>A	15.37:g.75942786G>A	ENSP00000311427:p.Arg448His						p.R448H	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	2540	+			448			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1343G>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027339	0.75390	0.0	4.66E-4	ENSG00000173548	ENST00000308527	T	0.44482	0.92	5.48	4.47	0.54385	Sorting nexin protein, WASP-binding domain (1);	0.116057	0.53938	D	0.000052	T	0.39118	0.1066	L	0.29908	0.895	0.58432	D	0.999994	P	0.51933	0.949	P	0.53809	0.735	T	0.09100	-1.0690	10	0.40728	T	0.16	-8.4488	7.3649	0.26768	0.1757:0.0:0.8243:0.0	.	448	Q8WV41	SNX33_HUMAN	H	448	ENSP00000311427:R448H	ENSP00000311427:R448H	R	+	2	0	SNX33	73729841	1.000000	0.71417	0.974000	0.42286	0.980000	0.70556	4.388000	0.59633	2.586000	0.87340	0.561000	0.74099	CGT		0.567	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		4	161	0	0	0	1	0	4	161					A	75942786	G	A	75942786	3	1	261	1	0	0	0	0	1	0	0	0	14903	1145	40	1	1345	1	SNX33	15	75942786	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	35355644	75942786	26588606	18	29128											
SEMA4B	10509	broad.mit.edu	37	chr15	90768923	90768923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcctcacactcgggcGtagtccaggtgcccatggcc	13	15	1	0	rs202078413		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:90768923G>A	ENST00000411539.2	+	12	1812	c.1552G>A	c.(1552-1554)Gta>Ata	p.V518I	SEMA4B_ENST00000332496.6_Missense_Mutation_p.V518I|SEMA4B_ENST00000379122.3_Missense_Mutation_p.V513I	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	513	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)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACACTCGGGCGTAGTCCAGGT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		16484	0.001		0.0	False		,,,				2504	0.0					ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(1552-1554)Gta>Ata		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B		G	ILE/VAL,ILE/VAL	0,4142		0,0,2071	15	20	18		1552,1552	2.7	0	15		18	1,8343		0,1,4171	yes	missense,missense	SEMA4B	NM_020210.3,NM_198925.2	29,29	0,1,6242	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging,possibly-damaging	518/838,518/838	90768923	1,12485	2071	4172	6243	SO:0001583	missense	10509							g.chr15:90768923G>A	AB051532	CCDS45347.1	15q25	2008-07-18						"Semaphorins"	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1552G>A	15.37:g.90768923G>A	ENSP00000394720:p.Val518Ile					SEMA4B_ENST00000379122.3_Missense_Mutation_p.V513I|SEMA4B_ENST00000332496.6_Missense_Mutation_p.V518I	p.V518I	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		12	1812	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	c.1552G>A	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535444	0.27475	0.0	1.2E-4	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.37915	1.17;1.17;1.17	5.69	2.7	0.31948	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.255981	0.39759	N	0.001270	T	0.24851	0.0603	N	0.25332	0.735	0.34570	D	0.713303	B;B;B	0.31769	0.339;0.057;0.057	B;B;B	0.30782	0.12;0.021;0.021	T	0.26292	-1.0107	10	0.42905	T	0.14	.	11.5884	0.50931	0.1751:0.0:0.8249:0.0	.	513;518;513	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	I	518;513;518	ENSP00000332204:V518I;ENSP00000368417:V513I;ENSP00000394720:V518I	ENSP00000332204:V518I	V	+	1	0	SEMA4B	88569927	0.148000	0.22702	0.007000	0.13788	0.093000	0.18481	0.496000	0.22499	0.321000	0.23259	-0.291000	0.09656	GTA		0.672	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		4	5	0	0	0	1	0	4	5					A	90768923	G	A	90768923	3	1	261	1	0	0	0	0	1	0	0	0	14032	1145	40	1	1598	1	SEMA4B	15	90768923	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	14826137	90768923	11762469	19	29129											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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)				TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	11	0	0	0	1	0	54	11					C	7578394	T	C	7578394	3	2	261	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		7578394	73616816	20	29130											
KRT20	54474	broad.mit.edu	37	chr17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgtcgtcccgaggcGctgcatgcccactgtactga	14	13	0	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				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)				GTCCCGAGGCGCTGCATGCCC	0.597																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(82-84)Cgc>Tgc		keratin 20							36	36	36					17																	39041356		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041356G>A	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.82C>T	17.37:g.39041356G>A	ENSP00000167588:p.Arg28Cys						p.R28C	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	123	-		Breast(137;0.000301)|Ovarian(249;0.15)	28			Head.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.82C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077922	0.55753	.	.	ENSG00000171431	ENST00000167588	D	0.84070	-1.8	5.17	1.94	0.25998	.	1.630110	0.03448	N	0.210284	T	0.69842	0.3156	N	0.14661	0.345	0.09310	N	0.99999	B	0.10296	0.003	B	0.04013	0.001	T	0.58323	-0.7656	10	0.38643	T	0.18	.	4.8168	0.13371	0.0849:0.1149:0.5878:0.2124	.	28	P35900	K1C20_HUMAN	C	28	ENSP00000167588:R28C	ENSP00000167588:R28C	R	-	1	0	KRT20	36294882	0.999000	0.42202	0.609000	0.28983	0.014000	0.08584	1.653000	0.37323	1.332000	0.45431	0.655000	0.94253	CGC		0.597	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			25	33	0	0	0	1	0	25	33					A	39041356	G	A	39041356	3	1	261	1	0	0	0	0	1	0	0	0	8458	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	31462962	39041356	42153854	21	29131											
ZADH2	284273	broad.mit.edu	37	chr18	72913406	72913406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagagtgaggtaattcaaCtacaatttttccagtgtttt	8	6	1	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr18:72913406C>T	ENST00000322342.3	-	2	1388	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I	ZADH2_ENST00000537114.2_Missense_Mutation_p.V244I	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	367						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGTAATTCAACTACAATTTTT	0.398																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(1099-1101)Gtt>Att		zinc binding alcohol dehydrogenase domain containing 2							74	75	75					18																	72913406		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913406C>T	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.1099G>A	18.37:g.72913406C>T	ENSP00000323678:p.Val367Ile					ZADH2_ENST00000537114.2_Missense_Mutation_p.V244I	p.V367I	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	1388	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	367					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.1099G>A	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724935	0.68959	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.17370	3.07;2.28	5.61	3.79	0.43588	.	0.145914	0.45867	D	0.000337	T	0.36358	0.0964	M	0.79693	2.465	0.33592	D	0.601245	D	0.59767	0.986	P	0.56960	0.81	T	0.46735	-0.9170	10	0.33940	T	0.23	0.0024	11.6561	0.51320	0.1398:0.7261:0.1341:0.0	.	367	Q8N4Q0	ZADH2_HUMAN	I	367;244	ENSP00000323678:V367I;ENSP00000440111:V244I	ENSP00000323678:V367I	V	-	1	0	ZADH2	71042394	1.000000	0.71417	0.214000	0.23707	0.998000	0.95712	3.158000	0.50723	-2.576000	0.00465	0.524000	0.50904	GTT		0.398	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		22	38	0	0	0	1	0	22	38					T	72913406	C	T	72913406	3	4	261	1	0	0	0	0	1	0	0	0	17508	565	20	2	38	2	ZADH2	18	72913406	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		72913406	5163842	22	29132											
KCNB1	3745	broad.mit.edu	37	chr20	48098921	48098921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgacgttgaggcggaCccgccgagagcacgccttgc	13	18	0	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr20:48098921C>T	ENST00000371741.4	-	1	263	c.97G>A	c.(97-99)Gtc>Atc	p.V33I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	33					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TTGAGGCGGACCCGCCGAGAG	0.716																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(97-99)Gtc>Atc		potassium voltage-gated channel, Shab-related subfamily, member 1							5	6	6					20																	48098921		1979	3927	5906	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098921C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.97G>A	20.37:g.48098921C>T	ENSP00000360806:p.Val33Ile						p.V33I	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	263	-			33					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.97G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276183	0.80580	.	.	ENSG00000158445	ENST00000371741	T	0.79247	-1.25	4.86	4.86	0.63082	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	L	0.28400	0.85	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.76846	-0.2808	10	0.30078	T	0.28	.	12.5832	0.56401	0.0:0.9181:0.0:0.0819	.	33	Q14721	KCNB1_HUMAN	I	33	ENSP00000360806:V33I	ENSP00000360806:V33I	V	-	1	0	KCNB1	47532328	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.906000	0.69900	2.528000	0.85240	0.563000	0.77884	GTC		0.716	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		2	0	0	0	0	1	0	2	0					T	48098921	C	T	48098921	3	4	261	1	0	0	0	0	1	0	0	0	8012	507	18	2	2487	2	KCNB1	20	48098921	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		48098921	14926599	23	29133											
ATRX	546	broad.mit.edu	37	chrX	76855230	76855230	+	Frame_Shift_Del	DEL	G	G	-													tcatcggagcttaaactcatGgaggtttcatcagaatctga							TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chrX:76855230delG	ENST00000373344.5	-	24	5971	c.5757delC	c.(5755-5757)tccfs	p.S1919fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1881fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1919					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						TTAAACTCATGGAGGTTTCAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5755-5757)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						66	61	63					X																	76855230		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855230delG	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.5757delC	X.37:g.76855230delG	ENSP00000362441:p.Ser1919fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1881fs	p.S1919fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			24	5971	-			1919					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5757delC	CCDS14434.1																																																																																				0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		22	8						22	8	---	---	---	---	-	76855230	G	-	76855230	7	5	261	1	0	1	0	1	0	0	0	0	1208	1335	47	0	1769	0	ATRX	23	76855230	Frame_Shift_Del	DEL	G	TCGA-HT-7676-01A-11D-2395-08		76855230	78415330	24	29134											
FUBP1	8880	broad.mit.edu	37	chr1	78430643	78430643	+	Frame_Shift_Del	DEL	C	C	-													gaatcataaccattttaactCcagcccgttcctgttacaat							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:78430643delC	ENST00000370768.2	-	9	728	c.647delG	c.(646-648)ggafs	p.G216fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.G216fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.G237fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(646-648)gafs		far upstream element (FUSE) binding protein 1							76	84	81					1																	78430643		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430643delC	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.647delG	1.37:g.78430643delC	ENSP00000359804:p.Gly216fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.G237fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.G216fs	p.G216fs			Q96AE4	FUBP1_HUMAN			9	734	-			216			KH 2.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.647delG	CCDS683.1																																																																																				0.363	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		44	33						44	33	---	---	---	---	-	78430643	C	-	78430643	7	5	262	1	0	1	0	1	0	0	0	0	6092	855	30	0	1335	0	FUBP1	1	78430643	Frame_Shift_Del	DEL	C	TCGA-HT-7677-01A-11D-2253-08		78430643	170819978	1	29135											
F5	2153	broad.mit.edu	37	chr1	169524423	169524423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaacaactcacttgTccatattcgctggtattaca	5	13	1	0	rs370875907		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:169524423T>C	ENST00000367797.3	-	7	1316	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	F5_ENST00000367796.3_Missense_Mutation_p.D372G|F5_ENST00000546081.1_Missense_Mutation_p.D235G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	372	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AACTCACTTGTCCATATTCGC	0.468																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1114-1116)gAc>gGc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						207	191	196					1																	169524423		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169524423T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1115A>G	1.37:g.169524423T>C	ENSP00000356771:p.Asp372Gly					F5_ENST00000546081.1_Missense_Mutation_p.D235G|F5_ENST00000367797.3_Missense_Mutation_p.D372G	p.D372G			P12259	FA5_HUMAN			7	1316	-	all_hematologic(923;0.208)		372			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1115A>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676602	0.88445	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99089	-5.41;-5.41;-5.41	5.78	5.78	0.91487	Cupredoxin (2);	0.048257	0.85682	D	0.000000	D	0.98905	0.9629	M	0.75447	2.3	0.46774	D	0.999193	D	0.76494	0.999	P	0.58820	0.846	D	0.99601	1.0978	9	0.72032	D	0.01	.	16.109	0.81247	0.0:0.0:0.0:1.0	.	372	P12259	FA5_HUMAN	G	372;372;235	ENSP00000356771:D372G;ENSP00000356770:D372G;ENSP00000439664:D235G	ENSP00000356770:D372G	D	-	2	0	F5	167791047	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.954000	0.76001	2.210000	0.71456	0.528000	0.53228	GAC		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		30	183	0	0	0	1	0	30	183					C	169524423	T	C	169524423	3	2	262	1	0	0	0	0	1	0	0	0	5348	1667	58	3	5635	3	F5	1	169524423	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	91093780	169524423	79726198	2	29136											
CFHR3	10878	broad.mit.edu	37	chr1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaccacagttacatgtaCggagaaaggctggtctccta	11	10	1	2	rs574536456		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:196749062C>T	ENST00000367425.4	+	3	481	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFHR3_ENST00000471440.2_Missense_Mutation_p.T130M|CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T130M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTTACATGTACGGAGAAAGGC	0.473													-|||	1	0.000199681	0.0	0.0	5008	,	,		11779	0.0		0.0	False		,,,				2504	0.001					ENST00000471440.2																			1	Substitution - Missense(1)	p.T130M(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(388-390)aCg>aTg		complement factor H-related 3							85	84	85					1																	196749062		1904	4137	6041	SO:0001583	missense	10878							g.chr1:196749062C>T	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.389C>T	1.37:g.196749062C>T	ENSP00000356395:p.Thr130Met					CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M|CFHR3_ENST00000367425.4_Missense_Mutation_p.T130M	p.T130M							3	463	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.389C>T	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.648809	0.29336	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.65916	-0.18;-0.18;-0.18	3.67	2.74	0.32292	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69486	0.3116	M	0.79343	2.45	0.09310	N	1	P;D;P	0.60575	0.875;0.988;0.943	P;P;B	0.54889	0.598;0.763;0.258	T	0.57365	-0.7824	9	0.31617	T	0.26	.	7.6977	0.28604	0.0:0.8732:0.0:0.1268	.	130;130;130	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	M	130	ENSP00000356395:T130M;ENSP00000436258:T130M;ENSP00000375845:T130M	ENSP00000356395:T130M	T	+	2	0	CFHR3	195015685	0.132000	0.22450	0.037000	0.18230	0.005000	0.04900	1.146000	0.31589	0.653000	0.30826	0.398000	0.26397	ACG		0.473	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		36	58	0	0	0	1	0	36	58					T	196749062	C	T	196749062	3	4	262	1	0	0	0	0	1	0	0	0	3286	536	19	1	399	1	CFHR3	1	196749062	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	27224639	196749062	52501559	3	29137											
PPM1B	5495	broad.mit.edu	37	chr2	44457550	44457550	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttgaatcttaaaaaaAggcctccgatgaagcagagg	12	7	2	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:44457550A>G	ENST00000282412.4	+	6	1546		c.e6-1		PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000345249.4_Splice_Site	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTAAAAAAAGGCCTCCGAT	0.393																																						ENST00000282412.4																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.e6-1		protein phosphatase, Mg2+/Mn2+ dependent, 1B							78	90	86					2																	44457550		2203	4300	6503	SO:0001630	splice_region_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44457550A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1135-1A>G	2.37:g.44457550A>G						PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000345249.4_Splice_Site|PPM1B_ENST00000378540.4_Intron		NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN			6	1546	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Splice_Site	SNP	ENST00000282412.4	37		CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604106	0.46423	.	.	ENSG00000138032	ENST00000282412;ENST00000345249	.	.	.	5.09	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9477	0.29995	0.8434:0.0:0.1566:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPM1B	44311054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.061000	0.64319	2.034000	0.60081	0.482000	0.46254	.		0.393	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	Intron	3	86	0	0	0	1	0	3	86					G	44457550	A	G	44457550	5	3	262	1	0	0	0	0	0	0	1	0	12336	86	3	3	1184	3	PPM1B	2	44457550	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08		44457550	198741823	4	29138											
SPTBN1	6711	broad.mit.edu	37	chr2	54859857	54859857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggtgagcgatgggaAcatcaactcagatcgcatcc	13	10	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:54859857A>G	ENST00000356805.4	+	17	4000	c.3719A>G	c.(3718-3720)aAc>aGc	p.N1240S	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1227S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1240					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)			AGCGATGGGAACATCAACTCA	0.507																																						ENST00000333896.5																			0				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						c.(3679-3681)aAc>aGc		spectrin, beta, non-erythrocytic 1							124	109	114					2																	54859857		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54859857A>G		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.3719A>G	2.37:g.54859857A>G	ENSP00000349259:p.Asn1240Ser					SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1240S	p.N1227S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		16	4065	+			1240					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3680A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	32	5.169245	0.94768	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.32023	1.47;1.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.85945	2.785	0.58432	D	0.999993	P;P	0.46220	0.756;0.874	P;P	0.53760	0.461;0.734	T	0.61792	-0.6990	10	0.72032	D	0.01	.	15.5486	0.76129	1.0:0.0:0.0:0.0	.	1227;1240	Q01082-3;Q01082	.;SPTB2_HUMAN	S	1240;1227	ENSP00000349259:N1240S;ENSP00000334156:N1227S	ENSP00000334156:N1227S	N	+	2	0	SPTBN1	54713361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.081000	0.62600	0.533000	0.62120	AAC		0.507	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	51	0	0	0	1	0	3	51					G	54859857	A	G	54859857	3	3	262	1	0	0	0	0	1	0	0	0	15118	43	2	3	3894	3	SPTBN1	2	54859857	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	10402307	54859857	188339516	5	29139											
SCN3A	6328	broad.mit.edu	37	chr2	165948831	165948831	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atagtgaagtagtagtgtctGagggagacgagcttcagcac	14	6	2	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:165948831G>C	ENST00000360093.3	-	27	5231	c.4740C>G	c.(4738-4740)ctC>ctG	p.L1580L	SCN3A_ENST00000409101.3_Silent_p.L1531L|SCN3A_ENST00000540861.1_Silent_p.L63L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.L1580L|SCN3A_ENST00000465043.1_5'UTR	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1580					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)	AGTAGTGTCTGAGGGAGACGA	0.438																																						ENST00000360093.3																			0				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						c.(4738-4740)ctC>ctG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						141	123	129					2																	165948831		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165948831G>C	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.4740C>G	2.37:g.165948831G>C						SCN3A_ENST00000409101.3_Silent_p.L1531L|SCN3A_ENST00000540861.1_Silent_p.L63L|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Silent_p.L1580L	p.L1580L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			27	5231	-			1580					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.4740C>G																																																																																					0.438	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		35	54	0	0	0	1	0	35	54					C	165948831	G	C	165948831	2	2	262	1	0	0	0	0	0	0	0	1	13918	1277	45	4		4	SCN3A	2	165948831	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	111088974	165948831	77250542	6	29140											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	42	0	0	0	1	0	31	42					T	209113112	C	T	209113112	3	4	262	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	43164281	209113112	34086261	7	29141											
ATG9A	79065	broad.mit.edu	37	chr2	220088460	220088460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggggtgtgacaatgggGctcagcaactcttccaaaat	12	8	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:220088460G>A	ENST00000409618.1	-	10	1885	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	ATG9A_ENST00000409422.1_Silent_p.S421S|ATG9A_ENST00000396761.2_Silent_p.S482S|ATG9A_ENST00000361242.4_Silent_p.S482S|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	482					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)		TGACAATGGGGCTCAGCAACT	0.577																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1444-1446)agC>agT		autophagy related 9A							59	68	65					2																	220088460		2028	4203	6231	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220088460G>A	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.1446C>T	2.37:g.220088460G>A						ATG9A_ENST00000396761.2_Silent_p.S482S|ATG9A_ENST00000409422.1_Silent_p.S421S|ATG9A_ENST00000361242.4_Silent_p.S482S	p.S482S			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1885	-		Renal(207;0.0474)	482					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.1446C>T	CCDS42820.1																																																																																				0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	70	0	0	0	1	0	4	70					A	220088460	G	A	220088460	2	1	262	1	0	0	0	0	0	0	0	1	1102	1194	42	2		2	ATG9A	2	220088460	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	10975348	220088460	23110913	8	29142											
TRIP12	9320	broad.mit.edu	37	chr2	230638967	230638968	+	Frame_Shift_Del	DEL	CT	CT	-													tttctaatgcatactgtagaCtctctttggtctaaaaaaca							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:230638967_230638968delCT	ENST00000283943.5	-	37	5492_5493	c.5314_5315delAG	c.(5314-5316)agtfs	p.S1772fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S1502fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1820fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1772					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)		ATACTGTAGACTCTCTTTGGTC	0.361																																						ENST00000283943.5																			0				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						c.(5314-5316)tfs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230638967_230638968delCT	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.5314_5315delAG	2.37:g.230638971_230638972delCT	ENSP00000283943:p.Ser1772fs					TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S1502fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1820fs	p.S1772fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	37	5492_5493	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1772					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.5314_5315delAG	CCDS33391.1																																																																																				0.361	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		44	64						44	64	---	---	---	---	-	230638968	CT	-	230638967	7	5	262	1	0	1	0	1	0	0	0	0	16553	565	20	0	683	0	TRIP12	2	230638967	Frame_Shift_Del	DEL	CT	TCGA-HT-7677-01A-11D-2253-08	10550507	230638967	12560406	9	29143											
FGD5	152273	broad.mit.edu	37	chr3	14862573	14862573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgtttaagaagaagacGgagaacaaattgcatgtgga	12	5	0	5	rs371257394		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14862573G>A	ENST00000285046.5	+	1	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_ENST00000543601.1_Silent_p.T424T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	665					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						AGAAGAAGACGGAGAACAAAT	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19923	0.0		0.0	False		,,,				2504	0.0					ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1993-1995)acG>acA		FYVE, RhoGEF and PH domain containing 5		G		4,3964		0,4,1980	80	80	80		1995	-10.6	0	3		80	0,8342		0,0,4171	no	coding-synonymous	FGD5	NM_152536.3		0,4,6151	AA,AG,GG		0.0,0.1008,0.0325		665/1463	14862573	4,12306	1984	4171	6155	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862573G>A	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.1995G>A	3.37:g.14862573G>A						FGD5_ENST00000543601.1_Silent_p.T424T	p.T665T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2105	+			665					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.1995G>A	CCDS46767.1																																																																																				0.512	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		30	38	0	0	0	1	0	30	38					A	14862573	G	A	14862573	2	1	262	1	0	0	0	0	0	0	0	1	5836	1103	39	1		1	FGD5	3	14862573	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		14862573	183159857	10	29144											
XIRP1	165904	broad.mit.edu	37	chr3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccccaggctcctcccGccctggcccagtactctgac	9	21	1	1	rs371572701		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193					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)	p.R1193W(1)		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)		GGCTCCTCCCGCCCTGGCCCA	0.677																																						ENST00000340369.3																			1	Substitution - Missense(1)	p.R1193W(1)	endometrium(1)	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						c.(3577-3579)Cgg>Tgg		xin actin-binding repeat containing 1		G	,TRP/ARG	0,4402		0,0,2201	21	25	24		,3577	-0.5	0	3		24	1,8599		0,1,4299	no	intron,missense	XIRP1	NM_001198621.1,NM_194293.2	,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,benign	,1193/1844	39227360	1,13001	2201	4300	6501	SO:0001583	missense	165904						actin binding	g.chr3:39227360G>A	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.3577C>T	3.37:g.39227360G>A	ENSP00000343140:p.Arg1193Trp					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	p.R1193W	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3805	-			1193					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3577C>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127172	0.20959	0.0	1.16E-4	ENSG00000168334	ENST00000340369	T	0.03745	3.82	4.57	-0.46	0.12175	.	0.830318	0.10387	N	0.680851	T	0.01835	0.0058	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46638	-0.9177	10	0.40728	T	0.16	.	7.4287	0.27115	0.518:0.0:0.482:0.0	.	1193	Q702N8	XIRP1_HUMAN	W	1193	ENSP00000343140:R1193W	ENSP00000343140:R1193W	R	-	1	2	XIRP1	39202364	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	-0.345000	0.07770	-0.208000	0.10171	0.561000	0.74099	CGG		0.677	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	39	0	0	0	1	0	5	39					A	39227360	G	A	39227360	3	1	262	1	0	0	0	0	1	0	0	0	17426	1086	38	1	1958	1	XIRP1	3	39227360	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24364787	39227360	158795070	11	29145											
BOD1L	259282	broad.mit.edu	37	chr4	13600575	13600575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagattctcacctatgTcacacacattttcttcagaa	5	11	4	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:13600575T>C	ENST00000040738.5	-	10	8084	c.7949A>G	c.(7948-7950)gAc>gGc	p.D2650G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2650						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTCACCTATGTCACACACATT	0.378																																						ENST00000040738.5																			0											c.(7948-7950)gAc>gGc		biorientation of chromosomes in cell division 1-like 1							141	133	136					4																	13600575		2202	4300	6502	SO:0001583	missense	259282						DNA binding	g.chr4:13600575T>C	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.7949A>G	4.37:g.13600575T>C	ENSP00000040738:p.Asp2650Gly						p.D2650G	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	8084	-			2650					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7949A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092280	0.36952	.	.	ENSG00000038219	ENST00000040738	T	0.07444	3.19	5.27	4.09	0.47781	.	0.705590	0.13183	N	0.407320	T	0.04679	0.0127	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45891	-0.9230	10	0.09590	T	0.72	-1.3304	6.713	0.23288	0.0:0.1858:0.0:0.8142	.	2650	Q8NFC6	BOD1L_HUMAN	G	2650	ENSP00000040738:D2650G	ENSP00000040738:D2650G	D	-	2	0	BOD1L	13209673	0.000000	0.05858	0.002000	0.10522	0.842000	0.47809	-0.162000	0.10012	0.860000	0.35481	0.454000	0.30748	GAC		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	95	0	0	0	1	0	3	95					C	13600575	T	C	13600575	3	2	262	1	0	0	0	0	1	0	0	0	1483	1667	58	3	1274	3	BOD1L	4	13600575	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		13600575	177553701	12	29146											
TRIML1	339976	broad.mit.edu	37	chr4	189061052	189061052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacgagcagggtggaagcGccttcgtagcccagagccat	14	11	0	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:189061052G>A	ENST00000332517.3	+	1	480	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	114					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGTGGAAGCGCCTTCGTAGC	0.622																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(340-342)Gcc>Acc		tripartite motif family-like 1							49	46	47					4																	189061052		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061052G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.340G>A	4.37:g.189061052G>A	ENSP00000327738:p.Ala114Thr						p.A114T	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	480	+		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	114					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.340G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716050	0.30413	.	.	ENSG00000184108	ENST00000332517	T	0.61510	0.1	5.06	-2.06	0.07298	.	2.400360	0.01345	N	0.011700	T	0.47985	0.1475	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34129	-0.9841	10	0.66056	D	0.02	-0.0426	4.2848	0.10850	0.3723:0.0:0.2224:0.4053	.	114	Q8N9V2	TRIML_HUMAN	T	114	ENSP00000327738:A114T	ENSP00000327738:A114T	A	+	1	0	TRIML1	189298046	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.084000	0.11268	-0.473000	0.06871	-0.224000	0.12420	GCC		0.622	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		3	48	0	0	0	1	0	3	48					A	189061052	G	A	189061052	3	1	262	1	0	0	0	0	1	0	0	0	16547	1087	38	1	342	1	TRIML1	4	189061052	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	175460477	189061052	2093224	13	29147											
BAT1	7919	broad.mit.edu	37	chr6	31506618	31506618	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactcccgagtgtgacacatCaccagtacagacaccttagg	8	13	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:31506618C>T	ENST00000396172.1	-	4	984	c.354G>A	c.(352-354)gtG>gtA	p.V118V	DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000453105.2_Silent_p.V71V|DDX39B_ENST00000458640.1_Silent_p.V118V|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000376177.2_Silent_p.V118V|SNORD84_ENST00000584275.1_RNA|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Silent_p.V133V	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	118	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGTGACACATCACCAGTACAG	0.453																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(397-399)gtG>gtA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							139	132	134					6																	31506618		2203	4300	6503	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31506618C>T	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.354G>A	6.37:g.31506618C>T						ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000396172.1_Silent_p.V118V|DDX39B_ENST00000376177.2_Silent_p.V118V|DDX39B_ENST00000458640.1_Silent_p.V118V|DDX39B_ENST00000453105.2_Silent_p.V71V|DDX39B_ENST00000449074.2_3'UTR	p.V133V			Q13838	DX39B_HUMAN			5	1029	-			118			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.399G>A	CCDS4697.1																																																																																				0.453	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		7	72	0	0	0	1	0	7	72					T	31506618	C	T	31506618	2	4	262	1	0	0	0	0	0	0	0	1	1318	813	29	2		2	BAT1	6	31506618	Silent	SNP	C	TCGA-HT-7677-01A-11D-2253-08		31506618	139608449	14	29148											
RARS2	57038	broad.mit.edu	37	chr6	88229954	88229954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaatacttgctgaaaatgCtttttttgtcctttatctgt	7	6	1	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:88229954C>A	ENST00000369536.5	-	13	1101	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	352					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)		GCTGAAAATGCTTTTTTTGTC	0.328																																						ENST00000369536.5																			0				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						c.(1054-1056)aaG>aaT		arginyl-tRNA synthetase 2, mitochondrial							200	191	194					6																	88229954		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229954C>A	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.1056G>T	6.37:g.88229954C>A	ENSP00000358549:p.Lys352Asn						p.K352N	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	13	1101	-		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)	352					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.1056G>T	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	6.342	0.431134	0.12045	.	.	ENSG00000146282	ENST00000369536	T	0.62364	0.03	5.76	-2.17	0.07059	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.591382	0.19919	N	0.103138	T	0.07818	0.0196	N	0.01096	-1.015	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.42616	-0.9441	10	0.15066	T	0.55	.	5.2895	0.15719	0.3361:0.2206:0.0:0.4434	.	352	Q5T160	SYRM_HUMAN	N	352	ENSP00000358549:K352N	ENSP00000358549:K352N	K	-	3	2	RARS2	88286673	0.001000	0.12720	0.986000	0.45419	0.960000	0.62799	-0.113000	0.10774	-0.105000	0.12132	-0.977000	0.02584	AAG		0.328	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		20	137	1	0	3.08376e-08	1	3.35427e-08	20	137					A	88229954	C	A	88229954	3	1	262	1	0	0	0	0	1	0	0	0	13059	796	28	4	712	4	RARS2	6	88229954	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	56723336	88229954	82885113	15	29149											
FHL5	9457	broad.mit.edu	37	chr6	97053913	97053913	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgccatgttttgagaAggagtttgctcactactgca	11	7	1	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:97053913A>G	ENST00000326771.2	+	5	850	c.470A>G	c.(469-471)aAg>aGg	p.K157R	FHL5_ENST00000541107.1_Missense_Mutation_p.K157R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	157	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTTTGAGAAGGAGTTTGCT	0.383																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(469-471)aAg>aGg		four and a half LIM domains 5							111	100	103					6																	97053913		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97053913A>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.470A>G	6.37:g.97053913A>G	ENSP00000326022:p.Lys157Arg					FHL5_ENST00000541107.1_Missense_Mutation_p.K157R	p.K157R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	5	850	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	157			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.470A>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480284	0.44044	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87491	-2.26;-2.26;-2.26	6.06	2.3	0.28687	Zinc finger, LIM-type (3);	0.000000	0.47455	D	0.000225	T	0.67822	0.2934	L	0.31804	0.96	0.49299	D	0.999771	B	0.21381	0.055	B	0.30646	0.118	T	0.63125	-0.6707	10	0.44086	T	0.13	.	6.8993	0.24273	0.7634:0.0:0.1247:0.1119	.	157	Q5TD97	FHL5_HUMAN	R	157	ENSP00000442357:K157R;ENSP00000326022:K157R;ENSP00000396390:K157R	ENSP00000326022:K157R	K	+	2	0	FHL5	97160634	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.289000	0.65656	0.516000	0.28340	0.528000	0.53228	AAG		0.383	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		7	55	0	0	0	1	0	7	55					G	97053913	A	G	97053913	3	3	262	1	0	0	0	0	1	0	0	0	5881	72	3	3	480	3	FHL5	6	97053913	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	8823959	97053913	74061154	16	29150											
EYA4	2070	broad.mit.edu	37	chr6	133783471	133783471	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgctatttttctgatatttAggccctatccacacattctt	4	10	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:133783471A>T	ENST00000367895.5	+	8	901		c.e8-1		EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000525849.1_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTGATATTTAGGCCCTATCC	0.438																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.e8-1		eyes absent homolog 4 (Drosophila)							184	174	178					6																	133783471		2203	4300	6503	SO:0001630	splice_region_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783471A>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.438-1A>T	6.37:g.133783471A>T						EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000452339.2_Splice_Site		NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	8	901	+	Colorectal(23;0.221)							B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Splice_Site	SNP	ENST00000367895.5	37		CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188616	0.78789	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EYA4	133825164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.284000	0.76573	0.528000	0.53228	.		0.438	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	Intron	24	176	0	0	0	1	0	24	176					T	133783471	A	T	133783471	5	4	262	1	0	0	0	0	0	0	1	0	5331	434	15	5	462	5	EYA4	6	133783471	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08	36729558	133783471	37331596	17	29151											
ARID1B	57492	broad.mit.edu	37	chr6	157469999	157469999	+	Frame_Shift_Del	DEL	G	G	-													cagcagggagggccaggaatGgggccgccaatgccaactgt							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:157469999delG	ENST00000350026.5	+	8	2755	c.2754delG	c.(2752-2754)atgfs	p.M918fs	ARID1B_ENST00000367148.1_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.M931fs|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.M860fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	918					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGGAATGGGGCCGCCAA	0.587																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2791-2793)atfs		AT rich interactive domain 1B (SWI1-like)							42	43	43					6																	157469999		2203	4293	6496	SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157469999delG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2754delG	6.37:g.157469999delG	ENSP00000055163:p.Met918fs					ARID1B_ENST00000367148.1_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.M860fs|ARID1B_ENST00000478761.1_3'UTR	p.M931fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	9	2794	+		Breast(66;0.000162)|Ovarian(120;0.0265)	918					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.2793delG	CCDS5251.2																																																																																				0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		31	62						31	62	---	---	---	---	-	157469999	G	-	157469999	7	5	262	1	0	1	0	1	0	0	0	0	914	1348	47	0	2827	0	ARID1B	6	157469999	Frame_Shift_Del	DEL	G	TCGA-HT-7677-01A-11D-2253-08	23686528	157469999	13645068	18	29152											
NPSR1	387129	broad.mit.edu	37	chr7	34724169	34724169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgcagactgaGcaattgataactctgtgggt	10	8	3	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:34724169G>A	ENST00000360581.1	+	2	281	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.E51E|NPSR1_ENST00000465305.1_Silent_p.E51E|NPSR1_ENST00000381539.3_Silent_p.E51E|NPSR1_ENST00000531252.1_Silent_p.E51E|NPSR1_ENST00000381553.3_Silent_p.E51E|NPSR1_ENST00000359791.1_Silent_p.E51E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	51						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)	TGCAGACTGAGCAATTGATAA	0.433																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(151-153)gaG>gaA		neuropeptide S receptor 1	Halothane(DB01159)						183	177	179					7																	34724169		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724169G>A	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.153G>A	7.37:g.34724169G>A						NPSR1_ENST00000359791.1_Silent_p.E51E|NPSR1_ENST00000381539.3_Silent_p.E51E|NPSR1_ENST00000531252.1_Silent_p.E51E|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000465305.1_Silent_p.E51E|NPSR1_ENST00000381553.3_Silent_p.E51E|NPSR1_ENST00000381542.1_Silent_p.E51E	p.E51E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			2	281	+			51					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.153G>A	CCDS5444.1																																																																																				0.433	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		34	60	0	0	0	1	0	34	60					A	34724169	G	A	34724169	2	1	262	1	0	0	0	0	0	0	0	1	10600	962	34	2		2	NPSR1	7	34724169	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		34724169	124414494	19	29153											
GRB10	2887	broad.mit.edu	37	chr7	50686874	50686874	+	Frame_Shift_Del	DEL	T	T	-													aggtaagactcaccatgggaTttttaaagaactcgtatttt							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:50686874delT	ENST00000401949.1	-	9	1239	c.770delA	c.(769-771)aatfs	p.N257fs	GRB10_ENST00000402497.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.N199fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000398812.2_Frame_Shift_Del_p.N257fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.N199fs|GRB10_ENST00000403097.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.N257fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	257					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|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 phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCATGGGATTTTTAAAGAA	0.408									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(751-753)atfs		growth factor receptor-bound protein 10							82	83	83					7																	50686874		1866	4097	5963	SO:0001589	frameshift_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50686874delT		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.770delA	7.37:g.50686874delT	ENSP00000385770:p.Asn257fs					GRB10_ENST00000398812.2_Frame_Shift_Del_p.N257fs|GRB10_ENST00000401949.1_Frame_Shift_Del_p.N257fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.N199fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.N257fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000402497.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.N199fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.N199fs	p.N251fs			Q13322	GRB10_HUMAN			8	1532	-	Glioma(55;0.08)|all_neural(89;0.245)		257					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Frame_Shift_Del	DEL	ENST00000401949.1	37	c.752delA	CCDS43582.1																																																																																				0.408	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			20	31						20	31	---	---	---	---	-	50686874	T	-	50686874	7	5	262	1	0	1	0	1	0	0	0	0	6756	1493	52	0	1058	0	GRB10	7	50686874	Frame_Shift_Del	DEL	T	TCGA-HT-7677-01A-11D-2253-08	15962705	50686874	108451789	20	29154											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764196	99764196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcctccaccctgtgggcGgtagccttttaccctagagg	13	13	0	1	rs116867043	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:99764196G>A	ENST00000360039.4	-	3	750	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120C|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000426974.2_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	120					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)					CCCTGTGGGCGGTAGCCTTTT	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		18885	0.0		0.002	False		,,,				2504	0.0					ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(358-360)Cgc>Tgc		galactose-3-O-sulfotransferase 4		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	99	102	101		358	3.1	0.9	7	dbSNP_133	101	16,8584	11.2+/-40.8	0,16,4284	yes	missense	GAL3ST4	NM_024637.4	180	0,18,6485	AA,AG,GG		0.186,0.0454,0.1384	possibly-damaging	120/487	99764196	18,12988	2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99764196G>A	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.358C>T	7.37:g.99764196G>A	ENSP00000353142:p.Arg120Cys					GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120C|GAL3ST4_ENST00000411994.1_Intron	p.R120C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			3	750	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		120					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.358C>T	CCDS5688.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.04	2.715278	0.48622	4.54E-4	0.00186	ENSG00000197093	ENST00000413800;ENST00000360039	D;D	0.99764	-6.68;-6.68	5.11	3.13	0.36017	.	0.776965	0.11075	U	0.602441	D	0.99266	0.9744	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.51101	0.659	D	0.98304	1.0520	10	0.40728	T	0.16	0.0671	7.5554	0.27820	0.0:0.1833:0.627:0.1896	.	120	Q96RP7	G3ST4_HUMAN	C	120	ENSP00000400451:R120C;ENSP00000353142:R120C	ENSP00000353142:R120C	R	-	1	0	GAL3ST4	99602132	0.830000	0.29337	0.926000	0.36857	0.335000	0.28730	0.911000	0.28584	1.121000	0.41925	0.455000	0.32223	CGC		0.612	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		4	167	0	0	0	1	0	4	167					A	99764196	G	A	99764196	3	1	262	1	0	0	0	0	1	0	0	0	6200	1116	39	1	1110	1	GAL3ST4	7	99764196	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	49077322	99764196	59374467	21	29155											
FLNC	2318	broad.mit.edu	37	chr7	128492959	128492959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcatgtcaccaacagcCccttcaagatcctggtgggg	11	13	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:128492959C>T	ENST00000325888.8	+	37	6343	c.6082C>T	c.(6082-6084)Ccc>Tcc	p.P2028S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1995S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2028					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						CACCAACAGCCCCTTCAAGAT	0.617																																						ENST00000325888.8																			0				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						c.(6082-6084)Ccc>Tcc		filamin C, gamma							57	65	63					7																	128492959		2062	4200	6262	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492959C>T	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.6082C>T	7.37:g.128492959C>T	ENSP00000327145:p.Pro2028Ser					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1995S	p.P2028S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			37	6343	+			2028					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6082C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363932	0.95877	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84223	-1.82;-1.82	5.46	5.46	0.80206	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96223	0.9162	10	0.87932	D	0	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	1995;2028	Q14315-2;Q14315	.;FLNC_HUMAN	S	2028;1995	ENSP00000327145:P2028S;ENSP00000344002:P1995S	ENSP00000327145:P2028S	P	+	1	0	FLNC	128280195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.573000	0.86826	0.655000	0.94253	CCC		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			7	88	0	0	0	1	0	7	88					T	128492959	C	T	128492959	3	4	262	1	0	0	0	0	1	0	0	0	5935	623	22	2	6228	2	FLNC	7	128492959	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	28728763	128492959	30645704	22	29156											
PSD3	23362	broad.mit.edu	37	chr8	18393449	18393449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgagaatgctgacaTacatttcatagcgggttttc	8	9	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:18393449T>C	ENST00000327040.8	-	16	3050	c.2948A>G	c.(2947-2949)tAt>tGt	p.Y983C	PSD3_ENST00000440756.2_Missense_Mutation_p.Y985C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y449C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y312C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y918C	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	984					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATGCTGACATACATTTCATA	0.488																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2953-2955)tAt>tGt		pleckstrin and Sec7 domain containing 3							98	86	90					8																	18393449		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393449T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2948A>G	8.37:g.18393449T>C	ENSP00000324127:p.Tyr983Cys					PSD3_ENST00000327040.8_Missense_Mutation_p.Y983C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y312C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y918C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y449C	p.Y985C			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3056	-			984					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2954A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526913	0.44969	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.47177	1.55;1.54;0.85;1.54	5.8	5.8	0.92144	.	0.000000	0.41823	U	0.000801	T	0.70919	0.3279	M	0.83774	2.66	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.954	T	0.75772	-0.3200	10	0.87932	D	0	.	14.0873	0.64964	0.0:0.0:0.0:1.0	.	983;984;449;312	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	C	983;985;205;449;312;918	ENSP00000324127:Y983C;ENSP00000401704:Y985C;ENSP00000286485:Y449C;ENSP00000430640:Y918C	ENSP00000286485:Y449C	Y	-	2	0	PSD3	18437729	1.000000	0.71417	0.041000	0.18516	0.321000	0.28281	6.367000	0.73099	2.205000	0.71048	0.533000	0.62120	TAT		0.488	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		3	88	0	0	0	1	0	3	88					C	18393449	T	C	18393449	3	2	262	1	0	0	0	0	1	0	0	0	12648	1406	49	3	199	3	PSD3	8	18393449	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		18393449	127970573	23	29157											
EPB49	2039	broad.mit.edu	37	chr8	21927431	21927431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatctacaagaagcctcCcatctataagcagagaggtg	8	11	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:21927431C>T	ENST00000523266.1	+	7	896	c.434C>T	c.(433-435)cCc>cTc	p.P145L	DMTN_ENST00000415253.1_Missense_Mutation_p.P145L|DMTN_ENST00000265800.5_Missense_Mutation_p.P145L|DMTN_ENST00000432128.1_Missense_Mutation_p.P145L|DMTN_ENST00000519907.1_Missense_Mutation_p.P145L|DMTN_ENST00000517600.1_Missense_Mutation_p.P105L|DMTN_ENST00000443491.2_Missense_Mutation_p.P120L|DMTN_ENST00000381470.3_Missense_Mutation_p.P145L|DMTN_ENST00000523782.2_Missense_Mutation_p.P120L|DMTN_ENST00000358242.3_Missense_Mutation_p.P145L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	145					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AAGAAGCCTCCCATCTATAAG	0.642																																						ENST00000358242.3																			0											c.(433-435)cCc>cTc		dematin actin binding protein							100	97	98					8																	21927431		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21927431C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.434C>T	8.37:g.21927431C>T	ENSP00000427866:p.Pro145Leu					DMTN_ENST00000265800.5_Missense_Mutation_p.P145L|DMTN_ENST00000517600.1_Missense_Mutation_p.P105L|DMTN_ENST00000381470.3_Missense_Mutation_p.P145L|DMTN_ENST00000519907.1_Missense_Mutation_p.P145L|DMTN_ENST00000415253.1_Missense_Mutation_p.P145L|DMTN_ENST00000443491.2_Missense_Mutation_p.P120L|DMTN_ENST00000432128.1_Missense_Mutation_p.P145L|DMTN_ENST00000523782.2_Missense_Mutation_p.P120L|DMTN_ENST00000523266.1_Missense_Mutation_p.P145L	p.P145L							7	927	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.434C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977057	0.92982	.	.	ENSG00000158856	ENST00000523300;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	D;T;T;T;T;D;D;T;T;T;T;T;T;T	0.83755	-1.76;1.45;1.45;1.45;1.45;-1.76;-1.76;1.63;1.45;1.63;1.45;1.45;1.45;1.45	4.78	4.78	0.61160	.	0.059630	0.64402	N	0.000002	D	0.88880	0.6557	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.991;0.997;0.997;0.997;0.997;0.998	D	0.90014	0.4123	10	0.87932	D	0	.	15.6518	0.77104	0.0:1.0:0.0:0.0	.	84;105;145;120;120;145	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	L	120;145;145;120;105;105;120;120;145;145;84;145;145;145;145;145	ENSP00000429116:P120L;ENSP00000370879:P145L;ENSP00000416111:P145L;ENSP00000397904:P120L;ENSP00000430618:P105L;ENSP00000428733:P120L;ENSP00000430382:P120L;ENSP00000428415:P145L;ENSP00000265800:P145L;ENSP00000429948:P145L;ENSP00000350977:P145L;ENSP00000401291:P145L;ENSP00000427866:P145L;ENSP00000429377:P145L	ENSP00000265800:P145L	P	+	2	0	EPB49	21983377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.452000	0.66638	2.369000	0.80426	0.511000	0.50034	CCC		0.642	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		7	122	0	0	0	1	0	7	122					T	21927431	C	T	21927431	3	4	262	1	0	0	0	0	1	0	0	0	5159	623	22	2	456	2	EPB49	8	21927431	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	3533982	21927431	124436591	24	29158											
C8orf80	389643	broad.mit.edu	37	chr8	27891083	27891083	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgcttccaaaaacagggtcGatctggtcatagacgggctg	12	9	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:27891083G>T	ENST00000413272.2	-	14	1885	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	NUGGC_ENST00000341513.6_Silent_p.I581I	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	581					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)										AAACAGGGTCGATCTGGTCAT	0.453																																						ENST00000413272.2																			0											c.(1741-1743)atC>atA		nuclear GTPase, germinal center associated							80	73	76					8																	27891083		1893	4110	6003	SO:0001819	synonymous_variant	389643							g.chr8:27891083G>T	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.1743C>A	8.37:g.27891083G>T						NUGGC_ENST00000341513.6_Silent_p.I581I	p.I581I	NM_001010906.1	NP_001010906.1					14	1885	-								Q6ZP73	Silent	SNP	ENST00000413272.2	37	c.1743C>A	CCDS47833.1																																																																																				0.453	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		3	38	1	0	1.23904e-05	1	1.32449e-05	3	38					T	27891083	G	T	27891083	2	4	262	1	0	0	0	0	0	0	0	1	2439	1048	37	4		4	C8orf80	8	27891083	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	5963652	27891083	118472939	25	29159											
PRKDC	5591	broad.mit.edu	37	chr8	48792204	48792204	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctggtgaagaatggaagaaGagtgacagcttggccctgtg	16	6	0	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:48792204G>C	ENST00000314191.2	-	40	5136	c.5080C>G	c.(5080-5082)Ctt>Gtt	p.L1694V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L1694V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1695					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)	AATGGAAGAAGAGTGACAGCT	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(5080-5082)Ctt>Gtt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							31	32	32					8																	48792204		1988	4157	6145	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48792204G>C		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.5080C>G	8.37:g.48792204G>C	ENSP00000313420:p.Leu1694Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.L1694V|PRKDC_ENST00000523565.1_5'UTR	p.L1694V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			40	5136	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1695					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.5080C>G		.	.	.	.	.	.	.	.	.	.	G	12.55	1.971555	0.34754	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66995	-0.24;-0.24	5.87	3.86	0.44501	Armadillo-type fold (1);	0.226106	0.38605	N	0.001622	T	0.59865	0.2225	L	0.49126	1.545	0.30842	N	0.735554	B;B	0.20261	0.043;0.043	B;B	0.15870	0.014;0.014	T	0.59118	-0.7514	10	0.40728	T	0.16	.	13.1534	0.59503	0.0:0.0:0.5132:0.4868	.	1694;1695	E7EUY0;P78527	.;PRKDC_HUMAN	V	1694	ENSP00000313420:L1694V;ENSP00000345182:L1694V	ENSP00000313420:L1694V	L	-	1	0	PRKDC	48954757	1.000000	0.71417	0.650000	0.29550	0.979000	0.70002	3.243000	0.51392	0.763000	0.33175	0.585000	0.79938	CTT		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	17	0	0	0	1	0	4	17					C	48792204	G	C	48792204	3	2	262	1	0	0	0	0	1	0	0	0	12521	942	33	4	7495	4	PRKDC	8	48792204	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	20901121	48792204	97571818	26	29160											
SOX17	64321	broad.mit.edu	37	chr8	55372386	55372386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagctcctcggggaggtggAccgcacggaatttgaacagt	15	10	0	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:55372386A>G	ENST00000297316.4	+	2	1280	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	359	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGGGAGGTGGACCGCACGGAA	0.692																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(1075-1077)gAc>gGc		SRY (sex determining region Y)-box 17							31	37	35					8																	55372386		2202	4300	6502	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372386A>G	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1076A>G	8.37:g.55372386A>G	ENSP00000297316:p.Asp359Gly						p.D359G	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1280	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	359			Sox C-terminal.			Missense_Mutation	SNP	ENST00000297316.4	37	c.1076A>G	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499828	0.64298	.	.	ENSG00000164736	ENST00000297316	D	0.91124	-2.79	5.09	3.88	0.44766	.	0.058457	0.64402	D	0.000004	D	0.88142	0.6357	M	0.71871	2.18	0.53688	D	0.999975	B	0.23442	0.085	B	0.26094	0.066	D	0.86395	0.1738	10	0.72032	D	0.01	.	6.6186	0.22790	0.7868:0.0:0.0758:0.1374	.	359	Q9H6I2	SOX17_HUMAN	G	359	ENSP00000297316:D359G	ENSP00000297316:D359G	D	+	2	0	SOX17	55534939	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.250000	0.78287	1.925000	0.55765	0.374000	0.22700	GAC		0.692	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			13	40	0	0	0	1	0	13	40					G	55372386	A	G	55372386	3	3	262	1	0	0	0	0	1	0	0	0	14947	275	10	3	1082	3	SOX17	8	55372386	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	6580182	55372386	90991636	27	29161											
DMRTA1	63951	broad.mit.edu	37	chr9	22451627	22451627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataaatcagctttctctcCtcttcaaactacttctgctt	2	12	5	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr9:22451627C>T	ENST00000325870.2	+	2	1457	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	411					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|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)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCTTTCTCTCCTCTTCAAACT	0.408																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1231-1233)cCt>cTt		DMRT-like family A1							114	120	118					9																	22451627		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451627C>T	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1232C>T	9.37:g.22451627C>T	ENSP00000319651:p.Pro411Leu						p.P411L	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1457	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	411					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.1232C>T	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752197	0.89753	.	.	ENSG00000176399	ENST00000325870	T	0.62105	0.05	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81950	0.4931	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83492	0.0070	10	0.87932	D	0	-20.0783	19.0887	0.93217	0.0:1.0:0.0:0.0	.	411	Q5VZB9	DMRTA_HUMAN	L	411	ENSP00000319651:P411L	ENSP00000319651:P411L	P	+	2	0	DMRTA1	22441627	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.560000	0.73950	2.801000	0.96364	0.650000	0.86243	CCT		0.408	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			29	69	0	0	0	1	0	29	69					T	22451627	C	T	22451627	3	4	262	1	0	0	0	0	1	0	0	0	4588	681	24	2	1238	2	DMRTA1	9	22451627	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		22451627	118761804	28	29162											
CYP2C19	1557	broad.mit.edu	37	chr10	96602618	96602618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccaggaagagattgaacGtgtcgttggcagaaaccgga	14	7	0	3	rs138142612		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:96602618G>A	ENST00000371321.3	+	7	1068	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	329			R -> H (in allele CYP2C19*18). {ECO:0000269|PubMed:16141610}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGATTGAACGTGTCGTTGGC	0.498																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(985-987)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	HIS/ARG	0,4406		0,0,2203	162	144	150		986	1.4	0	10	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	missense	CYP2C19	NM_000769.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	329/491	96602618	2,13004	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96602618G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.986G>A	10.37:g.96602618G>A	ENSP00000360372:p.Arg329His					CYP2C19_ENST00000464755.1_3'UTR	p.R329H	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	7	1068	+		Colorectal(252;0.09)	329		R -> H (in allele CYP2C19*18).			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.986G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	1.069	-0.670567	0.03403	0.0	2.33E-4	ENSG00000165841	ENST00000371321	T	0.69926	-0.44	3.37	1.37	0.22104	.	0.923473	0.09030	U	0.858958	T	0.62307	0.2417	M	0.70595	2.14	0.09310	N	1	B	0.22480	0.07	B	0.12837	0.008	T	0.49698	-0.8912	10	0.33940	T	0.23	.	7.8143	0.29249	0.2267:0.0:0.7733:0.0	.	329	P33261	CP2CJ_HUMAN	H	329	ENSP00000360372:R329H	ENSP00000360372:R329H	R	+	2	0	CYP2C19	96592608	0.000000	0.05858	0.014000	0.15608	0.055000	0.15305	-4.079000	0.00299	0.061000	0.16311	-0.362000	0.07510	CGT		0.498	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		16	134	0	0	0	1	0	16	134					A	96602618	G	A	96602618	3	1	262	1	0	0	0	0	1	0	0	0	4166	1145	40	1	1012	1	CYP2C19	10	96602618	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		96602618	38932129	29	29163											
DOCK1	1793	broad.mit.edu	37	chr10	128850979	128850979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaagaactacgtggacGgtgctgagaagccgggagta	16	6	0	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:128850979G>A	ENST00000280333.6	+	22	2282	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	725					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)	p.G725C(1)		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)		CTACGTGGACGGTGCTGAGAA	0.433																																						ENST00000280333.6																			1	Substitution - Missense(1)	p.G725C(1)	lung(1)	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						c.(2173-2175)Ggt>Agt		dedicator of cytokinesis 1							131	137	135					10																	128850979		2008	4176	6184	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128850979G>A	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.2173G>A	10.37:g.128850979G>A	ENSP00000280333:p.Gly725Ser						p.G725S	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	22	2282	+		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)	725					A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.2173G>A		.	.	.	.	.	.	.	.	.	.	G	5.655	0.305468	0.10678	.	.	ENSG00000150760	ENST00000280333	T	0.68181	-0.31	4.27	1.75	0.24633	.	0.252966	0.37261	N	0.002175	T	0.27241	0.0668	N	0.00483	-1.445	0.24473	N	0.994389	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30327	-0.9982	10	0.13853	T	0.58	.	8.2575	0.31765	0.8327:0.0:0.1673:0.0	.	725;725	B2RUU3;Q14185	.;DOCK1_HUMAN	S	725	ENSP00000280333:G725S	ENSP00000280333:G725S	G	+	1	0	DOCK1	128740969	0.999000	0.42202	0.969000	0.41365	0.490000	0.33462	4.108000	0.57817	0.207000	0.20607	-0.691000	0.03719	GGT		0.433	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		3	97	0	0	0	1	0	3	97					A	128850979	G	A	128850979	3	1	262	1	0	0	0	0	1	0	0	0	4684	1116	39	1	2259	1	DOCK1	10	128850979	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	32248361	128850979	6683768	30	29164											
OR52B6	340980	broad.mit.edu	37	chr11	5603034	5603034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcctatgctcaatcccGttatttatggagtgaggact	8	10	1	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr11:5603034G>A	ENST00000345043.2	+	1	928	c.928G>A	c.(928-930)Gtt>Att	p.V310I	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	310						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)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAATCCCGTTATTTATGG	0.443																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(928-930)Gtt>Att		olfactory receptor, family 52, subfamily B, member 6							204	186	192					11																	5603034		1927	4131	6058	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5603034G>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.928G>A	11.37:g.5603034G>A	ENSP00000341581:p.Val310Ile					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.V310I	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	928	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	310					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.928G>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.426543	0.00186	.	.	ENSG00000187747	ENST00000345043	T	0.32753	1.44	4.8	-3.3	0.05003	GPCR, rhodopsin-like superfamily (1);	0.193648	0.24571	N	0.037392	T	0.07954	0.0199	N	0.02842	-0.48	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35325	-0.9793	10	0.02654	T	1	.	7.2378	0.26079	0.3837:0.1407:0.4757:0.0	.	310	Q8NGF0	O52B6_HUMAN	I	310	ENSP00000341581:V310I	ENSP00000341581:V310I	V	+	1	0	OR52B6	5559610	0.000000	0.05858	0.029000	0.17559	0.152000	0.21847	-0.941000	0.03925	-0.476000	0.06842	-1.076000	0.02234	GTT		0.443	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		60	82	0	0	0	1	0	60	82					A	5603034	G	A	5603034	3	1	262	1	0	0	0	0	1	0	0	0	11113	1145	40	1	930	1	OR52B6	11	5603034	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		5603034	129403482	31	29165											
LTBR	4055	broad.mit.edu	37	chr12	6499942	6499942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacctcccagctacccccGaacctccataccccattccc	4	22	0	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:6499942G>A	ENST00000228918.4	+	10	1473	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LTBR_ENST00000541102.1_Missense_Mutation_p.E240K|LTBR_ENST00000539925.1_Missense_Mutation_p.E364K	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	383					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCTACCCCCGAACCTCCATA	0.612																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(1147-1149)Gaa>Aaa		lymphotoxin beta receptor (TNFR superfamily, member 3)							75	81	79					12																	6499942		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6499942G>A	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1147G>A	12.37:g.6499942G>A	ENSP00000228918:p.Glu383Lys					LTBR_ENST00000539925.1_Missense_Mutation_p.E364K|LTBR_ENST00000541102.1_Missense_Mutation_p.E240K	p.E383K	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			10	1473	+			383					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.1147G>A	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773613	0.31411	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000541102	T;T;T	0.37752	1.18;1.18;1.18	4.49	4.49	0.54785	.	1.998500	0.02320	N	0.072874	T	0.33294	0.0858	L	0.32530	0.975	0.21290	N	0.999736	P;P;P	0.41748	0.761;0.649;0.567	B;B;B	0.35182	0.197;0.097;0.086	T	0.43393	-0.9394	10	0.87932	D	0	-6.1771	12.5421	0.56177	0.0:0.0:1.0:0.0	.	364;364;383	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	K	364;383;276;240	ENSP00000440875:E364K;ENSP00000228918:E383K;ENSP00000438605:E240K	ENSP00000228918:E383K	E	+	1	0	LTBR	6370203	0.966000	0.33281	0.823000	0.32752	0.026000	0.11368	4.503000	0.60407	2.333000	0.79357	0.555000	0.69702	GAA		0.612	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			5	139	0	0	0	1	0	5	139					A	6499942	G	A	6499942	3	1	262	1	0	0	0	0	1	0	0	0	9077	1059	37	1	1185	1	LTBR	12	6499942	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		6499942	127351953	32	29166											
EMG1	10162	broad.mit.edu	37	chr12	7083747	7083747	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggatagtcccctgaacCgagctggcttgctacaggtt	12	10	0	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:7083747C>T	ENST00000261407.4	-	0	2268				EMG1_ENST00000546220.1_3'UTR|LPCAT3_ENST00000535021.1_5'Flank|EMG1_ENST00000261406.6_Nonsense_Mutation_p.R101*	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCCCCTGAACCGAGCTGGCTT	0.493																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase							41	40	40					12																	7083747		1917	4119	6036	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7083747C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7083747C>T						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	334	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37		CCDS8572.1																																																																																				0.493	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		15	32	0	0	0	1	0	15	32					T	7083747	C	T	7083747	1	4	262	0	1	0	0	0	0	0	0	0	5090	644	23	1		1	EMG1	12	7083747	IGR	SNP	C	TCGA-HT-7677-01A-11D-2253-08	583805	7083747	126768148	33	29167											
STRAP	11171	broad.mit.edu	37	chr12	16036493	16036493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatggtaaacctatgctacGccagggagatacaggagact	12	8	0	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:16036493G>A	ENST00000419869.2	+	2	444	c.131G>A	c.(130-132)cGc>cAc	p.R44H	STRAP_ENST00000025399.6_Missense_Mutation_p.R57H|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	44					maintenance of gastrointestinal epithelium (GO:0030277)|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 pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCTATGCTACGCCAGGGAGAT	0.358																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(130-132)cGc>cAc		serine/threonine kinase receptor associated protein							73	65	68					12																	16036493		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16036493G>A	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.131G>A	12.37:g.16036493G>A	ENSP00000392270:p.Arg44His					STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Missense_Mutation_p.R57H	p.R44H	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			2	444	+		Hepatocellular(102;0.121)	44					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.131G>A	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042064	0.93685	.	.	ENSG00000023734	ENST00000025399;ENST00000419869	T;T	0.80994	-1.44;-1.44	4.39	4.39	0.52855	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	0.90065	0.6897	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.90416	0.4413	10	0.45353	T	0.12	-7.1768	17.5463	0.87863	0.0:0.0:1.0:0.0	.	57;44	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	H	57;44	ENSP00000025399:R57H;ENSP00000392270:R44H	ENSP00000025399:R57H	R	+	2	0	STRAP	15927760	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.595000	0.98260	2.436000	0.82500	0.655000	0.94253	CGC		0.358	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		3	53	0	0	0	1	0	3	53					A	16036493	G	A	16036493	3	1	262	1	0	0	0	0	1	0	0	0	15325	1087	38	1	137	1	STRAP	12	16036493	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	8952746	16036493	117815402	34	29168											
KRT75	9119	broad.mit.edu	37	chr12	52822506	52822506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatccccatgtctgcctgCggtgacctgcagctcctcgt	10	16	2	1	rs140579691	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:52822506C>T	ENST00000252245.5	-	6	1277	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	353	Coil 2.|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)		TGTCTGCCTGCGGTGACCTGC	0.547													C|||	6	0.00119808	0.0045	0.0	5008	,	,		20297	0.0		0.0	False		,,,				2504	0.0					ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1057-1059)Gca>Aca		keratin 75		C	THR/ALA	9,4397	15.5+/-35.6	0,9,2194	153	127	136		1057	5.4	0.1	12	dbSNP_134	136	0,8600		0,0,4300	yes	missense	KRT75	NM_004693.2	58	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	probably-damaging	353/552	52822506	9,12997	2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52822506C>T	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.1057G>A	12.37:g.52822506C>T	ENSP00000252245:p.Ala353Thr						p.A353T	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	6	1277	-			353			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1057G>A	CCDS8827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.2	4.116244	0.77323	0.002043	0.0	ENSG00000170454	ENST00000252245	T	0.78924	-1.22	5.42	5.42	0.78866	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000053	D	0.90909	0.7143	M	0.93241	3.395	0.49915	D	0.999838	D	0.89917	1.0	D	0.85130	0.997	D	0.92980	0.6405	10	0.87932	D	0	.	15.5774	0.76404	0.1382:0.8618:0.0:0.0	.	353	O95678	K2C75_HUMAN	T	353	ENSP00000252245:A353T	ENSP00000252245:A353T	A	-	1	0	KRT75	51108773	0.999000	0.42202	0.111000	0.21465	0.376000	0.30014	4.092000	0.57707	2.544000	0.85801	0.561000	0.74099	GCA		0.547	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		9	120	0	0	0	1	0	9	120					T	52822506	C	T	52822506	3	4	262	1	0	0	0	0	1	0	0	0	8488	768	27	1	614	1	KRT75	12	52822506	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	36786013	52822506	81029389	35	29169											
HVCN1	84329	broad.mit.edu	37	chr12	111099098	111099098	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgcctgagactggtgtGggtggtggctgctcctcctc	14	13	0	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:111099098G>C	ENST00000356742.5	-	3	930	c.177C>G	c.(175-177)ccC>ccG	p.P59P	HVCN1_ENST00000548312.1_Silent_p.P59P|HVCN1_ENST00000439744.2_Silent_p.P39P|HVCN1_ENST00000242607.8_Silent_p.P59P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	59					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACTGGTGTGGGTGGTGGCT	0.622																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(175-177)ccC>ccG		hydrogen voltage-gated channel 1							63	65	64					12																	111099098		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099098G>C	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.177C>G	12.37:g.111099098G>C						HVCN1_ENST00000242607.8_Silent_p.P59P|HVCN1_ENST00000548312.1_Silent_p.P59P|HVCN1_ENST00000439744.2_Silent_p.P39P	p.P59P			Q96D96	HVCN1_HUMAN			3	930	-			59					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.177C>G	CCDS31900.1																																																																																				0.622	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		23	64	0	0	0	1	0	23	64					C	111099098	G	C	111099098	2	2	262	1	0	0	0	0	0	0	0	1	7462	1335	47	4		4	HVCN1	12	111099098	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	58276592	111099098	22752797	36	29170											
GPR81	27198	broad.mit.edu	37	chr12	123214713	123214713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggaggaaatcagccacGgccaaattgaaaaggtaaac	10	7	1	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:123214713G>A	ENST00000436083.2	-	1	677	c.174C>T	c.(172-174)gcC>gcT	p.A58A	HCAR1_ENST00000356987.2_Silent_p.A58A|HCAR1_ENST00000432564.1_Silent_p.A58A			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	58					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						AATCAGCCACGGCCAAATTGA	0.542																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(172-174)gcC>gcT		hydroxycarboxylic acid receptor 1							94	87	89					12																	123214713		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214713G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.174C>T	12.37:g.123214713G>A						HCAR1_ENST00000436083.2_Silent_p.A58A|HCAR1_ENST00000356987.2_Silent_p.A58A	p.A58A	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	416	-			58					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.174C>T	CCDS9236.1																																																																																				0.542	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			19	26	0	0	0	1	0	19	26					A	123214713	G	A	123214713	2	1	262	1	0	0	0	0	0	0	0	1	6711	1103	39	1		1	GPR81	12	123214713	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	12115615	123214713	10637182	37	29171											
UBC	7316	broad.mit.edu	37	chr12	125397147	125397147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctcgagagtgatggtctTaccagtcagggtcttcacga	11	11	4	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:125397147T>C	ENST00000536769.1	-	1	2747	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	UBC_ENST00000339647.5_Missense_Mutation_p.K391E|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.K315E|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	391	Ubiquitin-like 6. {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)		GTGATGGTCTTACCAGTCAGG	0.527																																						ENST00000536769.1																			0				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						c.(1171-1173)Aag>Gag		ubiquitin C							220	200	207					12																	125397147		2203	4297	6500	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397147T>C		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		ENST00000536769.1:c.1171A>G	12.37:g.125397147T>C	ENSP00000441543:p.Lys391Glu					UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.K391E|UBC_ENST00000546120.1_Missense_Mutation_p.K315E	p.K391E			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		391			Ubiquitin-like 6.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1171A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262354	0.23051	.	.	ENSG00000150991	ENST00000536769;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.76839	-1.05;-1.05;-1.05	3.34	3.34	0.38264	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48286	U	0.000199	T	0.79616	0.4476	M	0.75777	2.31	0.58432	D	0.999999	B	0.28605	0.217	B	0.39738	0.308	T	0.80547	-0.1334	10	0.87932	D	0	.	9.7647	0.40554	0.0:0.0:0.0:1.0	.	391	P0CG48	UBC_HUMAN	E	391;315;391;315	ENSP00000441543:K391E;ENSP00000344818:K391E;ENSP00000438394:K315E	ENSP00000344818:K391E	K	-	1	0	UBC	123963100	1.000000	0.71417	0.752000	0.31206	0.210000	0.24377	6.722000	0.74735	1.391000	0.46566	0.454000	0.30748	AAG		0.527	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		36	510	0	0	0	1	0	36	510					C	125397147	T	C	125397147	3	2	262	1	0	0	0	0	1	0	0	0	16839	1763	61	3	890	3	UBC	12	125397147	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	2182434	125397147	8454748	38	29172											
OXGR1	27199	broad.mit.edu	37	chr13	97639669	97639669	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggatgctgctatacaggttGaaatggaagctgaagcggat	14	5	0	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr13:97639669G>T	ENST00000298440.1	-	4	588	c.345C>A	c.(343-345)ttC>ttA	p.F115L	OXGR1_ENST00000543457.1_Missense_Mutation_p.F115L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	115					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)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATACAGGTTGAAATGGAAGC	0.453																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(343-345)ttC>ttA		oxoglutarate (alpha-ketoglutarate) receptor 1							79	68	72					13																	97639669		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639669G>T	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.345C>A	13.37:g.97639669G>T	ENSP00000298440:p.Phe115Leu					OXGR1_ENST00000543457.1_Missense_Mutation_p.F115L	p.F115L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	588	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		115					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.345C>A	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417331	0.62622	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.70045	-0.45;-0.45	5.56	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.056655	0.64402	D	0.000001	T	0.45438	0.1342	N	0.05230	-0.09	0.33031	D	0.53018	P	0.43431	0.807	P	0.45276	0.475	T	0.52109	-0.8619	10	0.13470	T	0.59	.	10.7654	0.46291	0.205:0.0:0.795:0.0	.	115	Q96P68	OXGR1_HUMAN	L	115	ENSP00000298440:F115L;ENSP00000438800:F115L	ENSP00000298440:F115L	F	-	3	2	OXGR1	96437670	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.362000	0.52314	0.317000	0.23160	0.655000	0.94253	TTC		0.453	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		3	55	1	0	0.150653	1	0.153123	3	55					T	97639669	G	T	97639669	3	4	262	1	0	0	0	0	1	0	0	0	11332	1281	45	4	672	4	OXGR1	13	97639669	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		97639669	17530209	39	29173											
PTPN9	5780	broad.mit.edu	37	chr15	75761319	75761319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtccagtgagcagaAggtacctgaagaaggaagga	15	6	0	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:75761319A>C	ENST00000306726.2	-	13	2085	c.1573T>G	c.(1573-1575)Ttc>Gtc	p.F525V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	525	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGCAGAAGGTACCTGAA	0.512																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1573-1575)Ttc>Gtc		protein tyrosine phosphatase, non-receptor type 9							63	52	56					15																	75761319		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75761319A>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1573T>G	15.37:g.75761319A>C	ENSP00000303554:p.Phe525Val						p.F525V	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			13	2085	-			525			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1573T>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825623	0.50739	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.17528	2.27	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.046595	0.85682	D	0.000000	T	0.41465	0.1160	M	0.74467	2.265	0.58432	D	0.999999	D	0.61080	0.989	D	0.75484	0.986	T	0.32079	-0.9920	10	0.87932	D	0	.	11.8444	0.52376	0.9307:0.0:0.0693:0.0	.	525	P43378	PTN9_HUMAN	V	525;515	ENSP00000303554:F525V	ENSP00000303554:F525V	F	-	1	0	PTPN9	73548372	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	4.717000	0.61923	2.371000	0.80710	0.533000	0.62120	TTC		0.512	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			14	20	0	0	0	1	0	14	20					C	75761319	A	C	75761319	3	2	262	1	0	0	0	0	1	0	0	0	12794	72	3	5	212	5	PTPN9	15	75761319	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08		75761319	26770073	40	29174											
TRAF7	84231	broad.mit.edu	37	chr16	2223509	2223509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaaaaccagagcaagcTcagcgaggacctcatggagt	13	10	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:2223509T>C	ENST00000326181.6	+	11	1172	c.1040T>C	c.(1039-1041)cTc>cCc	p.L347P		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	347					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						CAGAGCAAGCTCAGCGAGGAC	0.682																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1039-1041)cTc>cCc		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							47	44	45					16																	2223509		2197	4300	6497	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2223509T>C	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.1040T>C	16.37:g.2223509T>C	ENSP00000318944:p.Leu347Pro						p.L347P	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			11	1172	+			347					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1040T>C	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.351122	0.61183	.	.	ENSG00000131653	ENST00000326181	T	0.54866	0.55	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	L	0.29908	0.895	0.80722	D	1	P	0.45396	0.857	P	0.50791	0.65	T	0.55964	-0.8057	10	0.66056	D	0.02	-26.712	12.9549	0.58421	0.0:0.0:0.0:1.0	.	347	Q6Q0C0	TRAF7_HUMAN	P	347	ENSP00000318944:L347P	ENSP00000318944:L347P	L	+	2	0	TRAF7	2163510	1.000000	0.71417	0.982000	0.44146	0.214000	0.24535	7.386000	0.79775	1.914000	0.55421	0.459000	0.35465	CTC		0.682	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		34	57	0	0	0	1	0	34	57					C	2223509	T	C	2223509	3	2	262	1	0	0	0	0	1	0	0	0	16443	1551	54	3	1078	3	TRAF7	16	2223509	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		2223509	88131244	41	29175											
SIAH1	6477	broad.mit.edu	37	chr16	48396223	48396224	+	Frame_Shift_Del	DEL	AA	AA	-													tcaaagcagactggacactcAaaaagactcgccaagtcatt							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:48396223_48396224delAA	ENST00000380006.2	-	1	1569_1570	c.116_117delTT	c.(115-117)tttfs	p.F39fs	SIAH1_ENST00000356721.3_Frame_Shift_Del_p.F70fs|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Frame_Shift_Del_p.F39fs			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	39					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTGGACACTCAAAAAGACTCGC	0.51																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(115-117)tfs		siah E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396223_48396224delAA	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.116_117delTT	16.37:g.48396225_48396226delAA	ENSP00000369343:p.Phe39fs					SIAH1_ENST00000394725.2_Frame_Shift_Del_p.F39fs|SIAH1_ENST00000356721.3_Frame_Shift_Del_p.F70fs	p.F39fs			Q8IUQ4	SIAH1_HUMAN			1	1569_1570	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	39					A0FKF3|O43269|Q49A58|Q92880	Frame_Shift_Del	DEL	ENST00000380006.2	37	c.116_117delTT	CCDS10735.1																																																																																				0.51	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			7	102						7	102	---	---	---	---	-	48396224	AA	-	48396223	7	5	262	1	0	1	0	1	0	0	0	0	14299	127	5	0	735	0	SIAH1	16	48396223	Frame_Shift_Del	DEL	AA	TCGA-HT-7677-01A-11D-2253-08	46172714	48396223	41958530	42	29176											
DHODH	1723	broad.mit.edu	37	chr16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctccagggtgccctgcGctctgaaacaggagggctga	16	12	1	2	rs200181357		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:72057134G>A	ENST00000219240.4	+	7	911	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000572887.1_Missense_Mutation_p.R297H	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGTGCCCTGCGCTCTGAAACA	0.562																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(889-891)cGc>cAc		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)	G	HIS/ARG	1,3845		0,1,1922	44	45	45		890	4.6	1	16		45	8,8262		0,8,4127	yes	missense	DHODH	NM_001361.4	29	0,9,6049	AA,AG,GG		0.0967,0.026,0.0743	probably-damaging	297/396	72057134	9,12107	1923	4135	6058	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72057134G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.890G>A	16.37:g.72057134G>A	ENSP00000219240:p.Arg297His					DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000219240.4_Missense_Mutation_p.R297H	p.R297H			Q02127	PYRD_HUMAN			7	1067	+		Ovarian(137;0.125)	297					A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.890G>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035191	0.54896	2.6E-4	9.67E-4	ENSG00000102967	ENST00000219240	D	0.85258	-1.96	5.59	4.62	0.57501	Aldolase-type TIM barrel (1);	0.391760	0.29775	N	0.011234	T	0.79118	0.4392	L	0.48642	1.525	0.45205	D	0.998212	B	0.25390	0.125	B	0.15052	0.012	T	0.75966	-0.3131	10	0.49607	T	0.09	-0.3484	10.1455	0.42760	0.0712:0.1378:0.791:0.0	.	297	Q02127	PYRD_HUMAN	H	297	ENSP00000219240:R297H	ENSP00000219240:R297H	R	+	2	0	DHODH	70614635	0.967000	0.33354	1.000000	0.80357	0.904000	0.53231	2.880000	0.48530	1.458000	0.47871	0.561000	0.74099	CGC		0.562	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		4	88	0	0	0	1	0	4	88					A	72057134	G	A	72057134	3	1	262	1	0	0	0	0	1	0	0	0	4484	1087	38	1	916	1	DHODH	16	72057134	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	23660911	72057134	18297619	43	29177											
IL17C	27189	broad.mit.edu	37	chr16	88705399	88705399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaccagctcctccccgGcctcctgtttctgacctggc	8	18	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:88705399G>A	ENST00000244241.4	+	2	66	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	6					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)		CTCCTCCCCGGCCTCCTGTTT	0.642																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(16-18)gGc>gAc		interleukin 17C							83	95	91					16																	88705399		1985	4160	6145	SO:0001583	missense	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88705399G>A	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.17G>A	16.37:g.88705399G>A	ENSP00000244241:p.Gly6Asp						p.G6D	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	66	+			6					Q3MIG8|Q9HC75	Missense_Mutation	SNP	ENST00000244241.4	37	c.17G>A	CCDS42217.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852181	0.32699	.	.	ENSG00000124391	ENST00000244241	T	0.49139	0.79	4.37	2.36	0.29203	.	1.308000	0.05185	N	0.502128	T	0.34861	0.0912	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.32955	-0.9887	10	0.87932	D	0	-6.0654	6.6338	0.22872	0.0956:0.0:0.7289:0.1755	.	6	Q9P0M4	IL17C_HUMAN	D	6	ENSP00000244241:G6D	ENSP00000244241:G6D	G	+	2	0	IL17C	87232900	0.055000	0.20627	0.229000	0.23960	0.558000	0.35554	0.364000	0.20325	0.395000	0.25257	0.555000	0.69702	GGC		0.642	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		50	199	0	0	0	1	0	50	199					A	88705399	G	A	88705399	3	1	262	1	0	0	0	0	1	0	0	0	7636	1203	42	2	23	2	IL17C	16	88705399	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	16648265	88705399	1649354	44	29178											
TBX2	6909	broad.mit.edu	37	chr17	59482747	59482748	+	Frame_Shift_Ins	INS	-	-	G													aggagccggccgagagcggcINSggggacggcccgttcggcct							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr17:59482747_59482748insG	ENST00000240328.3	+	6	1517_1518	c.1236_1237insG	c.(1237-1239)gggfs	p.G413fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	413					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CCGAGAGCGGCGGGGACGGCCC	0.748																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1234-1239)gggggafs		T-box 2																																				SO:0001589	frameshift_variant	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482747_59482748insG	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1240dupG	17.37:g.59482751_59482751dupG	ENSP00000240328:p.Gly413fs					RP11-332H18.4_ENST00000592009.1_RNA	p.GG412fs	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			6	1517_1518	+			412					Q16424|Q7Z647	Frame_Shift_Ins	INS	ENST00000240328.3	37	c.1236_1237insG	CCDS11627.2																																																																																				0.748	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		2	4						2	4	---	---	---	---	G	59482748	-	G	59482747	7	5	262	1	0	1	1	0	0	0	0	0	15652	755	27	0	1258	0	TBX2	17	59482747	Frame_Shift_Ins	INS	-	TCGA-HT-7677-01A-11D-2253-08		59482747	21712463	45	29179											
DSC2	1824	broad.mit.edu	37	chr18	28650804	28650804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagccccacagaccagcGtaaacaggatgcctggagga	12	12	0	2	rs180863872	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr18:28650804G>A	ENST00000280904.6	-	14	2581	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.T713M	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	713					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGACCAGCGTAAACAGGAT	0.363													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15032	0.0		0.0	False		,,,				2504	0.0					ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(2137-2139)aCg>aTg		desmocollin 2							87	88	88					18																	28650804		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28650804G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2138C>T	18.37:g.28650804G>A	ENSP00000280904:p.Thr713Met					DSC2_ENST00000251081.6_Missense_Mutation_p.T713M	p.T713M	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		14	2581	-			713						Missense_Mutation	SNP	ENST00000280904.6	37	c.2138C>T	CCDS11892.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.30	3.593497	0.66219	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.58940	0.34;0.3	6.08	6.08	0.98989	.	0.000000	0.33327	N	0.005033	T	0.77032	0.4071	M	0.75615	2.305	0.47819	D	0.999529	D;D	0.89917	0.999;1.0	P;D	0.67900	0.902;0.954	T	0.75889	-0.3158	10	0.54805	T	0.06	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	713;713	Q02487;Q02487-2	DSC2_HUMAN;.	M	713;713;479;726	ENSP00000251081:T713M;ENSP00000280904:T713M	ENSP00000251081:T713M	T	-	2	0	DSC2	26904802	1.000000	0.71417	0.981000	0.43875	0.394000	0.30568	6.206000	0.72154	2.894000	0.99253	0.591000	0.81541	ACG		0.363	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		11	52	0	0	0	1	0	11	52					A	28650804	G	A	28650804	3	1	262	1	0	0	0	0	1	0	0	0	4766	1145	40	1	619	1	DSC2	18	28650804	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		28650804	49426444	46	29180											
MIDN	90007	broad.mit.edu	37	chr19	1255053	1255053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggggtcttctcagggacCttctctggtaggtgtcacag	14	11	4	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:1255053C>T	ENST00000591446.2	+	5	1258	c.849C>T	c.(847-849)acC>acT	p.T283T	MIDN_ENST00000300952.2_Silent_p.T283T			Q504T8	MIDN_HUMAN	midnolin	283						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		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)		TCTCAGGGACCTTCTCTGGTA	0.617																																						ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(847-849)acC>acT		midnolin							63	65	65					19																	1255053		2203	4299	6502	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1255053C>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.849C>T	19.37:g.1255053C>T						MIDN_ENST00000591446.2_Silent_p.T283T	p.T283T	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN		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)	6	1364	+		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)	283					Q96BW8	Silent	SNP	ENST00000591446.2	37	c.849C>T	CCDS32864.1																																																																																				0.617	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			5	92	0	0	0	1	0	5	92					T	1255053	C	T	1255053	2	4	262	1	0	0	0	0	0	0	0	1	9579	668	24	2		2	MIDN	19	1255053	Silent	SNP	C	TCGA-HT-7677-01A-11D-2253-08		1255053	57873930	47	29181											
ZSWIM4	65249	broad.mit.edu	37	chr19	13939496	13939496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtaatgacctggcggcGgagggagatggtgcgctggc	19	8	0	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:13939496G>A	ENST00000254323.2	+	12	2255	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R523Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	689							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)			ACCTGGCGGCGGAGGGAGATG	0.622																																						ENST00000254323.2																			0				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						c.(2065-2067)cGg>cAg		zinc finger, SWIM-type containing 4							109	88	95					19																	13939496		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13939496G>A	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.2066G>A	19.37:g.13939496G>A	ENSP00000254323:p.Arg689Gln					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R523Q	p.R689Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		12	2255	+			689						Missense_Mutation	SNP	ENST00000254323.2	37	c.2066G>A	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731054	0.89390	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.57907	0.45;0.37	4.87	3.83	0.44106	.	0.000000	0.49916	D	0.000140	T	0.68485	0.3006	M	0.72353	2.195	0.40700	D	0.982477	D;D	0.89917	0.998;1.0	D;D	0.75484	0.986;0.971	T	0.71869	-0.4462	10	0.87932	D	0	-34.608	10.7285	0.46083	0.0946:0.0:0.9053:0.0	.	523;689	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	Q	689;523	ENSP00000254323:R689Q;ENSP00000405278:R523Q	ENSP00000254323:R689Q	R	+	2	0	ZSWIM4	13800496	1.000000	0.71417	0.505000	0.27651	0.868000	0.49771	7.438000	0.80431	1.040000	0.40099	0.491000	0.48974	CGG		0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		4	165	0	0	0	1	0	4	165					A	13939496	G	A	13939496	3	1	262	1	0	0	0	0	1	0	0	0	18240	1116	39	1	2112	1	ZSWIM4	19	13939496	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	12684443	13939496	45189487	48	29182											
OR7A17	26333	broad.mit.edu	37	chr19	14991283	14991284	+	Frame_Shift_Del	DEL	TT	TT	-													ttcagagccctctttatgtcTttattcctcagactgtagat							TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:14991283_14991284delTT	ENST00000327462.2	-	1	980_981	c.884_885delAA	c.(883-885)aaafs	p.K295fs		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCTTTATGTCTTTATTCCTCAG	0.436																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(883-885)afs		olfactory receptor, family 7, subfamily A, member 17																																				SO:0001589	frameshift_variant	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991283_14991284delTT	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.884_885delAA	19.37:g.14991283_14991284delTT	ENSP00000328144:p.Lys295fs						p.K295fs	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	980_981	-	Ovarian(108;0.203)		295					Q6IFQ6|Q96R98	Frame_Shift_Del	DEL	ENST00000327462.2	37	c.884_885delAA	CCDS12319.1																																																																																				0.436	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		20	87						20	87	---	---	---	---	-	14991284	TT	-	14991283	7	5	262	1	0	1	0	1	0	0	0	0	11215	1606	56	0	46	0	OR7A17	19	14991283	Frame_Shift_Del	DEL	TT	TCGA-HT-7677-01A-11D-2253-08	1051787	14991283	44137700	49	29183											
FCHO1	23149	broad.mit.edu	37	chr19	17886277	17886277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctagacatgtccagagGtggatgaagaaggtttcact	11	9	1	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:17886277G>A	ENST00000596536.1	+	15	1241	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	FCHO1_ENST00000595033.1_Missense_Mutation_p.V270M|FCHO1_ENST00000600676.1_Missense_Mutation_p.V320M|FCHO1_ENST00000389133.4_Missense_Mutation_p.V320M|FCHO1_ENST00000539407.1_Missense_Mutation_p.V320M|FCHO1_ENST00000594202.1_Missense_Mutation_p.V320M|FCHO1_ENST00000252771.7_Missense_Mutation_p.V320M|FCHO1_ENST00000597512.1_Missense_Mutation_p.V327M|FCHO1_ENST00000596951.1_Missense_Mutation_p.V320M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	320	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGTCCAGAGGTGGATGAAGA	0.597											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(958-960)Gtg>Atg		FCH domain only 1							94	93	93					19																	17886277		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17886277G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.958G>A	19.37:g.17886277G>A	ENSP00000470731:p.Val320Met		OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000389133.4_Missense_Mutation_p.V320M|FCHO1_ENST00000596536.1_Missense_Mutation_p.V320M|FCHO1_ENST00000596951.1_Missense_Mutation_p.V320M|FCHO1_ENST00000597512.1_Missense_Mutation_p.V327M|FCHO1_ENST00000539407.1_Missense_Mutation_p.V320M|FCHO1_ENST00000600676.1_Missense_Mutation_p.V320M|FCHO1_ENST00000595033.1_Missense_Mutation_p.V270M|FCHO1_ENST00000252771.7_Missense_Mutation_p.V320M	p.V320M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			15	1237	+			320					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.958G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045672	0.55110	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.49720	0.77;0.77;0.77	4.23	4.23	0.50019	.	0.780481	0.11151	N	0.594146	T	0.66607	0.2806	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.972;0.972;0.988	T	0.60469	-0.7257	10	0.33940	T	0.23	-19.8383	14.4506	0.67382	0.0:0.0:1.0:0.0	.	270;320;320	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	M	320	ENSP00000252771:V320M;ENSP00000373785:V320M;ENSP00000437978:V320M	ENSP00000252771:V320M	V	+	1	0	FCHO1	17747277	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	8.304000	0.89958	2.075000	0.62263	0.491000	0.48974	GTG		0.597	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		22	194	0	0	0	1	0	22	194					A	17886277	G	A	17886277	3	1	262	1	0	0	0	0	1	0	0	0	5787	1261	44	2	1004	2	FCHO1	19	17886277	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	2894994	17886277	41242706	50	29184											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	13	8	2	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:42799051G>T	ENST00000575354.2	+	20	4575	c.4535G>T	c.(4534-4536)cGt>cTt	p.R1512L	CIC_ENST00000572681.2_Missense_Mutation_p.R2418L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					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)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7252-7254)cGt>cTt		capicua transcriptional repressor							51	51	51					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>T	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.4535G>T	19.37:g.42799051G>T	ENSP00000458663:p.Arg1512Leu					CIC_ENST00000575354.2_Missense_Mutation_p.R1512L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L	p.R2418L			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488509	0.84854	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.64875	0.2638	L	0.29908	0.895	0.48901	D	0.999725	D	0.65815	0.995	D	0.70227	0.968	T	0.68712	-0.5336	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	L	1512	.	ENSP00000160740:R1512L	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			52	25	1	0	2.53126e-37	1	2.85342e-37	52	25					T	42799051	G	T	42799051	3	4	262	1	0	0	0	0	1	0	0	0	3424	1145	40	4	4613	4	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24912774	42799051	16329932	51	29185											
CA11	770	broad.mit.edu	37	chr19	49143394	49143394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctgatgttccgagccGgctccgtcgcgagctccaaa	11	13	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:49143394G>A	ENST00000084798.4	-	4	1108	c.429C>T	c.(427-429)gcC>gcT	p.A143A	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	143						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		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;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GTTCCGAGCCGGCTCCGTCGC	0.607																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(427-429)gcC>gcT		carbonic anhydrase XI							86	78	80					19																	49143394		2203	4300	6503	SO:0001819	synonymous_variant	770					extracellular region		g.chr19:49143394G>A	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.429C>T	19.37:g.49143394G>A						SEC1P_ENST00000430145.2_RNA	p.A143A	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	4	1108	-		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)	143					O60596|Q6FHI1|Q9UEC4	Silent	SNP	ENST00000084798.4	37	c.429C>T	CCDS12729.1																																																																																				0.607	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		6	79	0	0	0	1	0	6	79					A	49143394	G	A	49143394	2	1	262	1	0	0	0	0	0	0	0	1	2512	1103	39	1		1	CA11	19	49143394	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	6344343	49143394	9985589	52	29186											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302301	28302301	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagctttgagccaatgatgCcgtcacagccagttctcaca	9	13	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:28302301C>G	ENST00000284987.5	-	7	2250	c.2129G>C	c.(2128-2130)gGc>gCc	p.G710A	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	710	Cys-rich.				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						GCCAATGATGCCGTCACAGCC	0.473																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				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						c.(2128-2130)gGc>gCc		ADAM metallopeptidase with thrombospondin type 1 motif, 5							238	211	221					21																	28302301		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302301C>G	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.2129G>C	21.37:g.28302301C>G	ENSP00000284987:p.Gly710Ala					AP001601.2_ENST00000426771.1_RNA	p.G710A	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			7	2250	-			710			Cys-rich.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2129G>C	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770711	0.31320	.	.	ENSG00000154736	ENST00000284987	T	0.62364	0.03	5.97	4.91	0.64330	.	0.142361	0.64402	D	0.000006	T	0.61937	0.2387	M	0.84433	2.695	0.39643	D	0.970349	P	0.36144	0.539	B	0.27262	0.078	T	0.64841	-0.6312	10	0.20519	T	0.43	.	16.0833	0.81020	0.0:0.9259:0.0:0.0741	.	710	Q9UNA0	ATS5_HUMAN	A	710	ENSP00000284987:G710A	ENSP00000284987:G710A	G	-	2	0	ADAMTS5	27224172	1.000000	0.71417	0.989000	0.46669	0.332000	0.28634	5.714000	0.68422	2.837000	0.97791	0.655000	0.94253	GGC		0.473	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	436	0	0	0	1	0	9	436					G	28302301	C	G	28302301	3	3	262	1	0	0	0	0	1	0	0	0	269	739	26	4	671	4	ADAMTS5	21	28302301	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		28302301	19827594	53	29187											
MRAP	56246	broad.mit.edu	37	chr21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaatgggggtcccctcGtcaggagcaagcccagcgag	13	15	2	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:33684248G>A	ENST00000399784.2	+	5	647	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	MRAP_ENST00000303645.5_Missense_Mutation_p.V154I|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	154					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						GGGTCCCCTCGTCAGGAGCAA	0.602																																						ENST00000399784.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(460-462)Gtc>Atc		melanocortin 2 receptor accessory protein							47	46	46					21																	33684248		2203	4299	6502	SO:0001583	missense	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33684248G>A	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.460G>A	21.37:g.33684248G>A	ENSP00000382684:p.Val154Ile					MRAP_ENST00000339944.4_Intron|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.V154I|MRAP_ENST00000497833.1_3'UTR|URB1_ENST00000382751.3_3'UTR	p.V154I	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN			5	647	+			154					Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Missense_Mutation	SNP	ENST00000399784.2	37	c.460G>A	CCDS13613.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866617	0.17250	.	.	ENSG00000170262	ENST00000399784;ENST00000303645	D;D	0.88046	-2.33;-2.33	4.36	-8.72	0.00845	.	.	.	.	.	T	0.72326	0.3446	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.55685	-0.8102	9	0.24483	T	0.36	-17.1272	8.494	0.33117	0.6007:0.2113:0.188:0.0	.	154	Q8TCY5	MRAP_HUMAN	I	154	ENSP00000382684:V154I;ENSP00000306697:V154I	ENSP00000306697:V154I	V	+	1	0	MRAP	32606119	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.107000	0.03316	-2.113000	0.00833	-0.736000	0.03550	GTC		0.602	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		33	45	0	0	0	1	0	33	45					A	33684248	G	A	33684248	3	1	262	1	0	0	0	0	1	0	0	0	9753	1145	40	1	470	1	MRAP	21	33684248	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	5381947	33684248	14445647	54	29188											
INSRR	3645	broad.mit.edu	37	chr1	156823629	156823629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctcaccagcagcaccCagcacaccagggcacacgtc	10	18	1	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:156823629C>T	ENST00000368195.3	-	2	948	c.552G>A	c.(550-552)ctG>ctA	p.L184L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	184					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCAGCACCCAGCACACCAG	0.637																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(550-552)ctG>ctA		insulin receptor-related receptor							84	72	76					1																	156823629		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823629C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.552G>A	1.37:g.156823629C>T						NTRK1_ENST00000392302.2_Intron	p.L184L	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			2	948	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		184					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.552G>A	CCDS1160.1																																																																																				0.637	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		27	40	0	0	0	1	0	27	40					T	156823629	C	T	156823629	2	4	263	1	0	0	0	0	0	0	0	1	7774	581	21	2		2	INSRR	1	156823629	Silent	SNP	C	TCGA-HT-7680-01A-11D-2253-08		156823629	92426992	1	29189											
CD244	51744	broad.mit.edu	37	chr1	160811160	160811160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcagcttgctccctctGtaccaagcataggacacatt	8	12	2	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:160811160G>A	ENST00000368033.3	-	3	592	c.510C>T	c.(508-510)taC>taT	p.Y170Y	CD244_ENST00000368034.4_Silent_p.Y165Y|CD244_ENST00000368032.2_Silent_p.Y165Y|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000322302.7_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	170	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCCTCTGTACCAAGCAT	0.547																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(493-495)taC>taT		CD244 molecule, natural killer cell receptor 2B4							214	179	191					1																	160811160		2203	4300	6503	SO:0001819	synonymous_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811160G>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.510C>T	1.37:g.160811160G>A						CD244_ENST00000368033.3_Silent_p.Y170Y|CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Silent_p.Y165Y	p.Y165Y	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	672	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		170			Ig-like 2.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	ENST00000368033.3	37	c.495C>T	CCDS53399.1																																																																																				0.547	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		64	121	0	0	0	1	0	64	121					A	160811160	G	A	160811160	2	1	263	1	0	0	0	0	0	0	0	1	2987	1372	48	2		2	CD244	1	160811160	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08	3987531	160811160	88439461	2	29190											
TBCCD1	55171	broad.mit.edu	37	chr3	186268998	186268998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggctgtccagctgttggcGatgtcctgtattaatcaacc	10	10	1	0	rs552386653		TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr3:186268998G>A	ENST00000424280.1	-	7	2094	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	TBCCD1_ENST00000338733.5_Missense_Mutation_p.R539C|TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000446782.1_Missense_Mutation_p.R443C	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	539					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGCTGTTGGCGATGTCCTGTA	0.428													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15802	0.0		0.0	False		,,,				2504	0.0					ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(1615-1617)Cgc>Tgc		TBCC domain containing 1							134	122	126					3																	186268998		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186268998G>A	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1615C>T	3.37:g.186268998G>A	ENSP00000411253:p.Arg539Cys					TBCCD1_ENST00000446782.1_Missense_Mutation_p.R443C|TBCCD1_ENST00000338733.5_Missense_Mutation_p.R539C	p.R539C	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	7	2094	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		539					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.1615C>T	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771900	0.49680	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.84146	-1.8;-1.8;-1.81	5.39	4.43	0.53597	.	0.191920	0.43110	D	0.000604	D	0.86451	0.5936	M	0.68317	2.08	0.46823	D	0.999215	D;D	0.60160	0.987;0.978	P;B	0.50049	0.629;0.306	D	0.87673	0.2542	10	0.66056	D	0.02	-1.8365	12.1257	0.53915	0.0:0.0:0.7527:0.2473	.	443;539	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	C	539;539;443	ENSP00000411253:R539C;ENSP00000341652:R539C;ENSP00000397091:R443C	ENSP00000341652:R539C	R	-	1	0	TBCCD1	187751692	0.991000	0.36638	0.921000	0.36526	0.976000	0.68499	1.857000	0.39399	2.529000	0.85273	0.650000	0.86243	CGC		0.428	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		3	81	0	0	0	1	0	3	81					A	186268998	G	A	186268998	3	1	263	1	0	0	0	0	1	0	0	0	15629	1058	37	1	62	1	TBCCD1	3	186268998	Missense_Mutation	SNP	G	TCGA-HT-7680-01A-11D-2253-08		186268998	11753432	3	29191											
PLRG1	5356	broad.mit.edu	37	chr4	155459182	155459182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaataatagcattatgaccGgaaagattttgaatgaaact	7	4	0	4	rs146078897		TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr4:155459182G>A	ENST00000499023.2	-	13	1356	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	PLRG1_ENST00000302078.5_Silent_p.S401S|PLRG1_ENST00000393905.2_Silent_p.S410S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	410					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATTATGACCGGAAAGATTTT	0.303																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(1228-1230)tcC>tcT		pleiotropic regulator 1		G	,	3,4397	4.2+/-10.8	0,3,2197	43	45	45		1203,1230	1.7	1	4	dbSNP_134	45	3,8575	3.0+/-9.4	0,3,4286	no	coding-synonymous,coding-synonymous	PLRG1	NM_001201564.1,NM_002669.3	,	0,6,6483	AA,AG,GG		0.035,0.0682,0.0462	,	401/506,410/515	155459182	6,12972	2200	4289	6489	SO:0001819	synonymous_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155459182G>A	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1230C>T	4.37:g.155459182G>A						PLRG1_ENST00000393905.2_Silent_p.S410S|PLRG1_ENST00000302078.5_Silent_p.S401S	p.S410S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			13	1356	-	all_hematologic(180;0.215)	Renal(120;0.0854)	410					B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	c.1230C>T	CCDS34083.1																																																																																				0.303	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		3	102	0	0	0	1	0	3	102					A	155459182	G	A	155459182	2	1	263	1	0	0	0	0	0	0	0	1	12106	1103	39	1		1	PLRG1	4	155459182	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		155459182	35695094	4	29192											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	42	0	0	0	1	0	3	42					A	132547141	G	A	132547141	2	1	263	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		132547141	1304754	5	29193											
LRRK1	79705	broad.mit.edu	37	chr15	101514014	101514014	+	Frame_Shift_Del	DEL	G	G	-													cttcctcccgcgcaggtgccGgggacacgggcggcaagccg							TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr15:101514014delG	ENST00000388948.3	+	3	462	c.103delG	c.(103-105)gggfs	p.G35fs	LRRK1_ENST00000284395.5_Frame_Shift_Del_p.G8fs|LRRK1_ENST00000532029.2_Frame_Shift_Del_p.G35fs	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)			CGCAGGTGCCGGGGACACGGG	0.741																																						ENST00000284395.5																			0				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						c.(22-24)ggfs		leucine-rich repeat kinase 1							2	4	3					15																	101514014		1668	3471	5139	SO:0001589	frameshift_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101514014delG	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.103delG	15.37:g.101514014delG	ENSP00000373600:p.Gly35fs					LRRK1_ENST00000532029.2_Frame_Shift_Del_p.G35fs|LRRK1_ENST00000388948.3_Frame_Shift_Del_p.G35fs	p.G8fs			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	422	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		35						Frame_Shift_Del	DEL	ENST00000388948.3	37	c.22delG	CCDS42086.1																																																																																				0.741	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		2	4						2	4	---	---	---	---	-	101514014	G	-	101514014	7	5	263	1	0	1	0	1	0	0	0	0	9032	1116	39	0	109	0	LRRK1	15	101514014	Frame_Shift_Del	DEL	G	TCGA-HT-7680-01A-11D-2253-08		101514014	1017378	6	29194											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572367	38572368	+	In_Frame_Ins	INS	-	-	GCCACC													agcctcttggcgagagcccgINSgccaccgccaccgccaccgc					rs564479011|rs569252662|rs562186095|rs371571630	byFrequency	TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:38572367_38572368insGCCACC	ENST00000222345.6	+	3	671_672	c.162_163insGCCACC	c.(163-165)gcc>GCCACCgcc	p.55_55A>ATA		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	55					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)			GCGAGAGCCCGgccaccgccac	0.718																																						ENST00000222345.6																			0				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						c.(160-165)ccccac>ccGCCACCccac		signal-induced proliferation-associated 1 like 3																																				SO:0001652	inframe_insertion	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572367_38572368insGCCACC	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.187_192dupGCCACC	19.37:g.38572368_38572373dupGCCACC	Exception_encountered						p.53_54insPP	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	671_672	+			53					Q2TV87	In_Frame_Ins	INS	ENST00000222345.6	37	c.162_163insGCCACC	CCDS33007.1																																																																																				0.718	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	11						5	11	---	---	---	---	GCCACC	38572368	-	GCCACC	38572367	7	5	263	1	0	1	1	0	0	0	0	0	14331	1103	39	0	164	0	SIPA1L3	19	38572367	In_Frame_Ins	INS	-	TCGA-HT-7680-01A-11D-2253-08		38572367	20556616	7	29195											
PRR12	57479	broad.mit.edu	37	chr19	50105084	50105084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcagtgtgtggggagaCggacgaggaggccggcgaga	23	7	0	2			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:50105084C>T	ENST00000418929.2	+	6	4694	c.4682C>T	c.(4681-4683)aCg>aTg	p.T1561M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	740							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)		TGTGGGGAGACGGACGAGGAG	0.682																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(4681-4683)aCg>aTg		proline rich 12							22	29	27					19																	50105084		1972	4129	6101	SO:0001583	missense	57479						DNA binding	g.chr19:50105084C>T	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.4682C>T	19.37:g.50105084C>T	ENSP00000394510:p.Thr1561Met						p.T1561M	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	6	4694	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	740					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.4682C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365042	0.24684	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	3.73	3.73	0.42828	.	0.408346	0.17741	N	0.163561	T	0.69433	0.3110	L	0.55990	1.75	0.39657	D	0.970555	D	0.89917	1.0	D	0.64595	0.927	T	0.74682	-0.3583	9	0.87932	D	0	-6.5962	14.4394	0.67306	0.0:1.0:0.0:0.0	.	1561	Q9ULL5-3	.	M	1561;741;741	.	ENSP00000246798:T741M	T	+	2	0	PRR12	54796896	1.000000	0.71417	0.990000	0.47175	0.159000	0.22180	4.554000	0.60760	1.907000	0.55213	0.313000	0.20887	ACG		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		16	29	0	0	0	1	0	16	29					T	50105084	C	T	50105084	3	4	263	1	0	0	0	0	1	0	0	0	12584	536	19	1	4704	1	PRR12	19	50105084	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08	11532717	50105084	9023899	8	29196											
C20orf54	113278	broad.mit.edu	37	chr20	745936	745936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgcaggtagtgagaccGgagccctgggcaagagccac	15	11	0	3	rs113754514		TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr20:745936G>A	ENST00000217254.7	-	2	724	c.483C>T	c.(481-483)tcC>tcT	p.S161S	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Silent_p.S161S	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	161					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										TAGTGAGACCGGAGCCCTGGG	0.602																																						ENST00000381944.3																			0											c.(481-483)tcC>tcT		solute carrier family 52 (riboflavin transporter), member 3							71	69	69					20																	745936		2203	4300	6503	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:745936G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.483C>T	20.37:g.745936G>A						SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.S161S	p.S161S			Q9NQ40	RFT2_HUMAN			2	724	-			161					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.483C>T	CCDS13007.1																																																																																				0.602	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		3	106	0	0	0	1	0	3	106					A	745936	G	A	745936	2	1	263	1	0	0	0	0	0	0	0	1	2114	1103	39	1		1	C20orf54	20	745936	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		745936	62279584	9	29197											
SEPT6	23157	broad.mit.edu	37	chrX	118771068	118771068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatacagctcatagtgcCgggtgtgggtctgctcccgc	15	12	2	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:118771068C>T	ENST00000343984.5	-	7	1142	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SEPT6_ENST00000394617.2_Missense_Mutation_p.R323Q|SEPT6_ENST00000354228.4_Missense_Mutation_p.R293Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.R235Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.R293Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.R293Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.R293Q|SEPT6_ENST00000394610.1_Missense_Mutation_p.R293Q	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	293	Septin-type G.				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						CTCATAGTGCCGGGTGTGGGT	0.587			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(877-879)cGg>cAg		septin 6							118	89	99					X																	118771068		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118771068C>T	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.878G>A	X.37:g.118771068C>T	ENSP00000341524:p.Arg293Gln					SEPT6_ENST00000354228.4_Missense_Mutation_p.R293Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.R235Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.R323Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.R293Q|SEPT6_ENST00000343984.5_Missense_Mutation_p.R293Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.R293Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.R293Q	p.R293Q	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			7	1142	-			293					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.878G>A	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086243	0.76642	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	L	0.41632	1.29	0.80722	D	1	B;B;B;B	0.27264	0.173;0.028;0.03;0.055	B;B;B;B	0.21917	0.032;0.037;0.034;0.025	T	0.72896	-0.4153	10	0.26408	T	0.33	.	16.9188	0.86158	0.0:1.0:0.0:0.0	.	323;235;293;293	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	Q	293;293;293;293;293;293;235;323	ENSP00000353278:R293Q;ENSP00000346169:R293Q;ENSP00000418715:R293Q;ENSP00000346397:R293Q;ENSP00000378108:R293Q;ENSP00000341524:R293Q;ENSP00000378114:R235Q;ENSP00000378115:R323Q	ENSP00000341524:R293Q	R	-	2	0	SEPT6	118655096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.200000	0.70718	0.594000	0.82650	CGG		0.587	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		7	174	0	0	0	1	0	7	174					T	118771068	C	T	118771068	3	4	263	1	0	0	0	0	1	0	0	0	14068	652	23	1	464	1	SEPT6	23	118771068	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08		118771068	36499492	10	29198											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				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)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	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.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		3	107	0	0	0	1	0	3	107					T	149639635	A	T	149639635	3	4	263	1	0	0	0	0	1	0	0	0	9208	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-HT-7680-01A-11D-2253-08	30868567	149639635	5630925	11	29199											
ZNF687	57592	broad.mit.edu	37	chr1	151258917	151258917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaggtgtaggaagtgaAtctgaagacacagcagcagc	13	8	1	3			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:151258917A>G	ENST00000368879.2	+	2	248	c.150A>G	c.(148-150)gaA>gaG	p.E50E		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TAGGAAGTGAATCTGAAGACA	0.572																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(148-150)gaA>gaG		zinc finger protein 687							58	63	62					1																	151258917		2203	4300	6503	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151258917A>G		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.150A>G	1.37:g.151258917A>G							p.E50E	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	248	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		50					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.150A>G																																																																																					0.572	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		32	53	0	0	0	1	0	32	53					G	151258917	A	G	151258917	2	3	264	1	0	0	0	0	0	0	0	1	18089	98	4	3		3	ZNF687	1	151258917	Silent	SNP	A	TCGA-HT-7681-01A-11D-2395-08		151258917	97991704	1	29200											
BCAN	63827	broad.mit.edu	37	chr1	156628820	156628820	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgtgtcttccccaggCccgagctctgcacccagagg	13	14	2	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:156628820C>A	ENST00000329117.5	+	14	2966	c.2630C>A	c.(2629-2631)gCc>gAc	p.A877D	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	877					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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCAGGCCCGAGCTCTG	0.627																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.e14-1		brevican							45	39	41					1																	156628820		2201	4294	6495	SO:0001630	splice_region_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628820C>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2629-1C>A	1.37:g.156628820C>A						BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.A877_splice	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			14	2966	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		877					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Splice_Site	SNP	ENST00000329117.5	37	c.2628_splice	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859677	0.32884	.	.	ENSG00000132692	ENST00000329117	T	0.14766	2.48	4.09	1.02	0.19986	.	0.443560	0.16711	N	0.202672	T	0.02848	0.0085	N	0.14661	0.345	0.58432	D	0.999999	P	0.38195	0.622	B	0.34991	0.193	T	0.49485	-0.8935	10	0.33940	T	0.23	-2.96	12.0144	0.53305	0.0:0.4818:0.5182:0.0	.	877	Q96GW7	PGCB_HUMAN	D	877	ENSP00000331210:A877D	ENSP00000331210:A877D	A	+	2	0	BCAN	154895444	0.507000	0.26146	0.899000	0.35326	0.449000	0.32228	0.398000	0.20899	0.240000	0.21263	0.561000	0.74099	GCC		0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	Missense_Mutation	2	6	1	0	0.0016	1	0.0016	2	6					A	156628820	C	A	156628820	5	1	264	1	0	0	0	0	0	0	1	0	1345	753	26	4	2754	4	BCAN	1	156628820	Splice_Site	SNP	C	TCGA-HT-7681-01A-11D-2395-08	5369903	156628820	92621801	2	29201											
RNPEP	6051	broad.mit.edu	37	chr1	201966606	201966606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggaacctggtcaccaaCgccaactggggtgaattctg	12	10	2	1	rs570330224		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:201966606C>T	ENST00000295640.4	+	5	1057	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	RP11-465N4.5_ENST00000608886.1_RNA|RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000367286.3_Silent_p.N299N|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	338					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)		TGGTCACCAACGCCAACTGGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18133	0.0		0.0	False		,,,				2504	0.001				GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1012-1014)aaC>aaT		arginyl aminopeptidase (aminopeptidase B)							117	101	107					1																	201966606		2203	4300	6503	SO:0001819	synonymous_variant	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201966606C>T	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.1014C>T	1.37:g.201966606C>T						RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.N299N	p.N338N	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	5	1057	+			338					Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	c.1014C>T	CCDS1418.1																																																																																				0.547	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		6	94	0	0	0	1	0	6	94					T	201966606	C	T	201966606	2	4	264	1	0	0	0	0	0	0	0	1	13509	535	19	1		1	RNPEP	1	201966606	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08	45337786	201966606	47284015	3	29202											
OXER1	165140	broad.mit.edu	37	chr2	42990225	42990225	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggcccagcaaggcccggctCtggtggaggaagttggggct	18	10	1	0	rs143944527	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr2:42990225C>G	ENST00000378661.2	-	1	1176	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	365					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGCCCGGCTCTGGTGGAGGA	0.652													.|||	7	0.00139776	0.0008	0.0029	5008	,	,		17609	0.0		0.004	False		,,,				2504	0.0					ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1093-1095)caG>caC		oxoeicosanoid (OXE) receptor 1		C	HIS/GLN	7,4399	12.9+/-30.5	0,7,2196	38	45	43		1095	3.1	0	2	dbSNP_134	43	43,8557	29.0+/-79.6	0,43,4257	yes	missense	OXER1	NM_148962.4	24	0,50,6453	GG,GC,CC		0.5,0.1589,0.3844	probably-damaging	365/424	42990225	50,12956	2203	4300	6503	SO:0001583	missense	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42990225C>G	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1095G>C	2.37:g.42990225C>G	ENSP00000367930:p.Gln365His						p.Q365H	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	1176	-			365					Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	c.1095G>C	CCDS1810.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	18.26	3.584638	0.65992	0.001589	0.005	ENSG00000162881	ENST00000378661	T	0.37235	1.21	3.99	3.11	0.35812	.	1.312490	0.05777	U	0.607986	T	0.23171	0.0560	N	0.08118	0	0.21762	N	0.999552	D	0.65815	0.995	P	0.51453	0.67	T	0.31888	-0.9927	10	0.40728	T	0.16	.	9.5059	0.39046	0.0:0.8924:0.0:0.1076	.	365	Q8TDS5	OXER1_HUMAN	H	365	ENSP00000367930:Q365H	ENSP00000367930:Q365H	Q	-	3	2	OXER1	42843729	0.048000	0.20356	0.005000	0.12908	0.559000	0.35586	1.926000	0.40084	0.789000	0.33779	0.655000	0.94253	CAG		0.652	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		4	49	0	0	0	1	0	4	49					G	42990225	C	G	42990225	3	3	264	1	0	0	0	0	1	0	0	0	11331	912	32	4	180	4	OXER1	2	42990225	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42990225	200209148	4	29203											
MLL2	8085	broad.mit.edu	37	chr12	49416133	49416133	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggaacatgtagatgcctcGattctagaaaggcagaggtt	12	7	1	3			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr12:49416133G>A	ENST00000301067.7	-	52	16341	c.16342C>T	c.(16342-16344)Cga>Tga	p.R5448*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5448	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										TAGATGCCTCGATTCTAGAAA	0.517																																						ENST00000301067.7																			0											c.(16342-16344)Cga>Tga		lysine (K)-specific methyltransferase 2D							46	44	45					12																	49416133		2075	4216	6291	SO:0001587	stop_gained	8085							g.chr12:49416133G>A	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.16342C>T	12.37:g.49416133G>A	ENSP00000301067:p.Arg5448*						p.R5448*	NM_003482.3	NP_003473.3					52	16341	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.16342C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	56	27.258056	0.99971	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.11	4.21	0.49690	.	0.000000	0.29522	N	0.011916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4079	0.67096	0.0:0.0:0.8513:0.1487	.	.	.	.	X	5448;129	.	ENSP00000301067:R5448X	R	-	1	2	MLL2	47702400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.634000	0.74290	1.280000	0.44463	0.650000	0.86243	CGA		0.517	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	11	0	0	0	1	0	9	11					A	49416133	G	A	49416133	4	1	264	1	0	0	0	0	0	1	0	0	9621	1066	37	1	283	1	MLL2	12	49416133	Nonsense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		49416133	84435762	5	29204											
BRCA2	675	broad.mit.edu	37	chr13	32911765	32911765	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catataacccctcagatgttAttttccaagcaggattttaa	5	9	1	1	rs80359382|rs276174833		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr13:32911765A>C	ENST00000380152.3	+	11	3506	c.3273A>C	c.(3271-3273)ttA>ttC	p.L1091F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L1091F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1091					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|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)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCAGATGTTATTTTCCAAGC	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(3271-3273)ttA>ttC	Homologous recombination	breast cancer 2, early onset							51	55	54					13																	32911765		2193	4287	6480	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911765A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3273A>C	13.37:g.32911765A>C	ENSP00000369497:p.Leu1091Phe	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.L1091F	p.L1091F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3500	+		Lung SC(185;0.0262)	1091					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3273A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417750	0.25552	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01152	5.26;5.26	5.45	0.269	0.15631	.	0.805067	0.10762	N	0.637052	T	0.03220	0.0094	M	0.77103	2.36	0.09310	N	1	P	0.45768	0.866	P	0.51742	0.678	T	0.35699	-0.9778	10	0.62326	D	0.03	.	4.1148	0.10076	0.5547:0.1734:0.2718:0.0	.	1091	P51587	BRCA2_HUMAN	F	1091	ENSP00000369497:L1091F;ENSP00000439902:L1091F	ENSP00000369497:L1091F	L	+	3	2	BRCA2	31809765	0.000000	0.05858	0.051000	0.19133	0.171000	0.22731	0.408000	0.21065	0.051000	0.15978	0.482000	0.46254	TTA		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		27	59	0	0	0	1	0	27	59					C	32911765	A	C	32911765	3	2	264	1	0	0	0	0	1	0	0	0	1499	446	16	5	3311	5	BRCA2	13	32911765	Missense_Mutation	SNP	A	TCGA-HT-7681-01A-11D-2395-08		32911765	82258113	6	29205											
OR11H6	122748	broad.mit.edu	37	chr14	20692083	20692083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgaaattggacaggcGgctccacacacccatgtaca	10	12	0	1	rs201233405		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:20692083G>A	ENST00000315519.2	+	1	293	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	72						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)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGACAGGCGGCTCCACACA	0.478													g|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.001		0.0	False		,,,				2504	0.0					ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(214-216)cGg>cAg		olfactory receptor, family 11, subfamily H, member 6		G	GLN/ARG	0,4406		0,0,2203	120	110	113		215	-5.7	0	14		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR11H6	NM_001004480.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	72/331	20692083	1,13005	2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692083G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.215G>A	14.37:g.20692083G>A	ENSP00000319071:p.Arg72Gln						p.R72Q	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	293	+	all_cancers(95;0.00108)		72					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.215G>A	CCDS32033.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.30	1.311061	0.23821	0.0	1.16E-4	ENSG00000176219	ENST00000315519	T	0.00583	6.41	4.77	-5.71	0.02413	GPCR, rhodopsin-like superfamily (1);	1.552910	0.04597	N	0.397761	T	0.00875	0.0029	L	0.58101	1.795	0.09310	N	1	B	0.18968	0.032	B	0.15870	0.014	T	0.36311	-0.9753	10	0.44086	T	0.13	.	14.8461	0.70261	0.8184:0.0:0.1816:0.0	.	72	Q8NGC7	O11H6_HUMAN	Q	72	ENSP00000319071:R72Q	ENSP00000319071:R72Q	R	+	2	0	OR11H6	19761923	0.000000	0.05858	0.001000	0.08648	0.785000	0.44390	-2.149000	0.01291	-1.136000	0.02892	-0.417000	0.06048	CGG		0.478	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			22	86	0	0	0	1	0	22	86					A	20692083	G	A	20692083	3	1	264	1	0	0	0	0	1	0	0	0	10929	1116	39	1	217	1	OR11H6	14	20692083	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		20692083	86657457	7	29206											
SAMD4A	23034	broad.mit.edu	37	chr14	55236839	55236840	+	Frame_Shift_Ins	INS	-	-	A													aggcatttacagagacacagINSaaaaaaagattgttgtcatg							TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:55236839_55236840insA	ENST00000554335.1	+	9	2277_2278	c.1614_1615insA	c.(1615-1617)aaafs	p.K539fs	SAMD4A_ENST00000251091.5_Frame_Shift_Ins_p.K451fs|SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.K539fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.K538fs|SAMD4A_ENST00000555192.1_Frame_Shift_Ins_p.K130fs			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	539					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGAGACACAGAAAAAAAGATT	0.416																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1348-1353)caaaaafs		sterile alpha motif domain containing 4A																																				SO:0001589	frameshift_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55236839_55236840insA	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1621dupA	14.37:g.55236846_55236846dupA	ENSP00000452535:p.Lys539fs					SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.QK538fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.QK537fs|SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.QK538fs|SAMD4A_ENST00000555192.1_Frame_Shift_Ins_p.QK129fs	p.QK450fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			7	1655_1656	+			538					A8MPZ5|Q0VA96|Q6PEW4	Frame_Shift_Ins	INS	ENST00000554335.1	37	c.1350_1351insA	CCDS32084.2																																																																																				0.416	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		26	99						26	99	---	---	---	---	A	55236840	-	A	55236839	7	5	264	1	0	1	1	0	0	0	0	0	13821	933	33	0	1641	0	SAMD4A	14	55236839	Frame_Shift_Ins	INS	-	TCGA-HT-7681-01A-11D-2395-08	34544756	55236839	52112701	8	29207											
C14orf118	55668	broad.mit.edu	37	chr14	76668100	76668100	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatcacccagctctgagtGgttggtgaggacctctgcag	12	11	3	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:76668100G>A	ENST00000261530.7	+	10	1421	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	GPATCH2L_ENST00000556675.1_Intron|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.W447*	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	452																	AGCTCTGAGTGGTTGGTGAGG	0.488																																						ENST00000261530.7																			0											c.(1354-1356)tGg>tAg		G patch domain containing 2-like							94	89	91					14																	76668100		2203	4300	6503	SO:0001587	stop_gained	55668							g.chr14:76668100G>A	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.1355G>A	14.37:g.76668100G>A	ENSP00000261530:p.Trp452*					GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.W447*|GPATCH2L_ENST00000556675.1_Intron	p.W452*	NM_017926.2	NP_060396.2					10	1421	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP	ENST00000261530.7	37	c.1355G>A	CCDS9848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.310838|4.310838	0.81358|0.81358	.|.	.|.	ENSG00000089916|ENSG00000089916	ENST00000336993|ENST00000312858;ENST00000261530	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.075639	.|0.64402	.|D	.|0.000020	T|.	0.45478|.	0.1344|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34054|.	-0.9844|.	5|.	0.87932|0.02654	D|T	0|1	-12.4709|-12.4709	17.0917|17.0917	0.86624|0.86624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	446|447;452	.|.	ENSP00000337200:G446S|ENSP00000261530:W452X	G|W	+|+	1|2	0|0	C14orf118|C14orf118	75737853|75737853	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.344000|0.344000	0.29017|0.29017	5.758000|5.758000	0.68776|0.68776	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.488	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		14	56	0	0	0	1	0	14	56					A	76668100	G	A	76668100	4	1	264	1	0	0	0	0	0	1	0	0	1741	1357	47	2	1433	2	C14orf118	14	76668100	Nonsense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08	21431261	76668100	30681440	9	29208											
INF2	64423	broad.mit.edu	37	chr14	105174321	105174321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaactggcagaagctgCcatccaacgtggcacgtggt	13	11	0	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:105174321C>T	ENST00000392634.4	+	8	1829	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	INF2_ENST00000330634.7_Missense_Mutation_p.P573S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	573	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCAGAAGCTGCCATCCAACGT	0.657																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1717-1719)Cca>Tca		inverted formin, FH2 and WH2 domain containing							39	43	42					14																	105174321		2116	4209	6325	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174321C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1717C>T	14.37:g.105174321C>T	ENSP00000376410:p.Pro573Ser					INF2_ENST00000330634.7_Missense_Mutation_p.P573S	p.P573S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1829	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	573			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.1717C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329821	0.41297	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.17054	2.3;2.3	4.04	4.04	0.47022	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.201782	0.43416	U	0.000577	T	0.31009	0.0783	M	0.71581	2.175	0.80722	D	1	P;P	0.47841	0.879;0.901	P;P	0.49332	0.472;0.607	T	0.25047	-1.0143	10	0.66056	D	0.02	.	16.1904	0.81986	0.0:1.0:0.0:0.0	.	573;573	Q27J81-2;Q27J81	.;INF2_HUMAN	S	573	ENSP00000376406:P573S;ENSP00000376410:P573S	ENSP00000252527:P41S	P	+	1	0	INF2	104245366	1.000000	0.71417	0.871000	0.34182	0.010000	0.07245	5.101000	0.64566	1.780000	0.52325	0.491000	0.48974	CCA		0.657	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		19	38	0	0	0	1	0	19	38					T	105174321	C	T	105174321	3	4	264	1	0	0	0	0	1	0	0	0	7734	739	26	2	1747	2	INF2	14	105174321	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08	28506221	105174321	2175219	10	29209											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			22	53	0	0	0	1	0	22	53					T	90631838	C	T	90631838	3	4	264	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		90631838	11899554	11	29210											
FBXL19	54620	broad.mit.edu	37	chr16	30939204	30939204	+	Frame_Shift_Del	DEL	C	C	-													agggccccctgcctgccgggCcccccccggaggacgtgcct							TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:30939204delC	ENST00000380310.2	+	5	765	c.607delC	c.(607-609)cccfs	p.P205fs	FBXL19_ENST00000338343.4_Frame_Shift_Del_p.P185fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs|FBXL19_ENST00000565690.1_Intron	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	205	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(547-549)ccfs		F-box and leucine-rich repeat protein 19				48,57,2757		3,1,41,8,40,1338	3	4	4			-1.3	0.5	16		4	101,159,6566		9,0,83,24,111,3186	no	codingComplex	FBXL19	NM_001099784.2		12,1,124,32,151,4524	A1A1,A1A2,A1R,A2A2,A2R,RR		3.809,3.6688,3.7675			30939204	149,216,9323	1585	3757	5342	SO:0001589	frameshift_variant	54620						DNA binding|zinc ion binding	g.chr16:30939204delC	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.607delC	16.37:g.30939204delC	ENSP00000369666:p.Pro205fs					FBXL19_ENST00000380310.2_Frame_Shift_Del_p.P205fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs	p.P185fs			Q6PCT2	FXL19_HUMAN			5	934	+			205					A8MT10|Q8N789|Q9NT14	Frame_Shift_Del	DEL	ENST00000380310.2	37	c.547delC	CCDS45465.1																																																																																				0.711	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		2	4						2	4	---	---	---	---	-	30939204	C	-	30939204	7	5	264	1	0	1	0	1	0	0	0	0	5715	739	26	0	625	0	FBXL19	16	30939204	Frame_Shift_Del	DEL	C	TCGA-HT-7681-01A-11D-2395-08		30939204	59415549	12	29211											
ABCA8	10351	broad.mit.edu	37	chr17	66914237	66914237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtactgaagaggatcacGcggtctgttttgcgttcttt	13	7	3	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:66914237G>A	ENST00000269080.2	-	14	2015	c.1878C>T	c.(1876-1878)cgC>cgT	p.R626R	ABCA8_ENST00000586539.1_Silent_p.R666R|ABCA8_ENST00000430352.2_Silent_p.R666R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGGATCACGCGGTCTGTTT	0.453																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1876-1878)cgC>cgT		ATP-binding cassette, sub-family A (ABC1), member 8							192	151	165					17																	66914237		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66914237G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1878C>T	17.37:g.66914237G>A						ABCA8_ENST00000586539.1_Silent_p.R666R|ABCA8_ENST00000430352.2_Silent_p.R666R	p.R626R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			14	2015	-	Breast(10;4.56e-13)		626			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.1878C>T	CCDS11680.1																																																																																				0.453	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		6	76	0	0	0	1	0	6	76					A	66914237	G	A	66914237	2	1	264	1	0	0	0	0	0	0	0	1	38	1074	38	1		1	ABCA8	17	66914237	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		66914237	14280973	13	29212											
CD300A	11314	broad.mit.edu	37	chr17	72469878	72469878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatcagggacagtcctGcaaacctcagcttcacagtg	9	13	3	0	rs148191018	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:72469878G>A	ENST00000360141.3	+	2	532	c.244G>A	c.(244-246)Gca>Aca	p.A82T	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	82	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						GGACAGTCCTGCAAACCTCAG	0.532																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(244-246)Gca>Aca		CD300a molecule		G	THR/ALA	0,4406		0,0,2203	160	142	148		244	0.6	0	17	dbSNP_134	148	4,8596	3.7+/-12.6	0,4,4296	no	missense	CD300A	NM_007261.2	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	82/300	72469878	4,13002	2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469878G>A	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.244G>A	17.37:g.72469878G>A	ENSP00000353259:p.Ala82Thr					CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR	p.A82T	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			2	532	+			82			Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.244G>A	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	0.867	-0.733424	0.03111	0.0	4.65E-4	ENSG00000167851	ENST00000360141	T	0.63580	-0.05	4.06	0.596	0.17496	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.027980	0.07786	N	0.954212	T	0.46814	0.1412	L	0.35288	1.05	0.09310	N	0.999999	B	0.11235	0.004	B	0.14023	0.01	T	0.28235	-1.0050	10	0.13853	T	0.58	.	7.7894	0.29112	0.0975:0.3081:0.5944:0.0	.	82	Q9UGN4	CLM8_HUMAN	T	82	ENSP00000353259:A82T	ENSP00000353259:A82T	A	+	1	0	CD300A	69981473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.304000	0.19228	0.109000	0.17891	-3.876000	0.00017	GCA		0.532	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		5	84	0	0	0	1	0	5	84					A	72469878	G	A	72469878	3	1	264	1	0	0	0	0	1	0	0	0	2996	1319	46	2	250	2	CD300A	17	72469878	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08	5555641	72469878	8725332	14	29213											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	12	15	2	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	40	0	0	0	1	0	18	40					T	42791757	C	T	42791757	3	4	264	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42791757	16337226	15	29214											
PCSK2	5126	broad.mit.edu	37	chr20	17462592	17462592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcactcagagtgccccGtacatcgaccaggtggtgcg	13	13	1	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr20:17462592G>A	ENST00000262545.2	+	12	2109	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.P563P|PCSK2_ENST00000377899.1_Silent_p.P579P	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	598					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGAGTGCCCCGTACATCGACC	0.612																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1792-1794)ccG>ccA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						32	28	29					20																	17462592		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462592G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1794G>A	20.37:g.17462592G>A						PCSK2_ENST00000536609.1_Silent_p.P563P|PCSK2_ENST00000377899.1_Silent_p.P579P|PCSK2_ENST00000459871.1_3'UTR	p.P598P	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	2109	+			598					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1794G>A	CCDS13125.1																																																																																				0.612	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		3	28	0	0	0	1	0	3	28					A	17462592	G	A	17462592	2	1	264	1	0	0	0	0	0	0	0	1	11601	1132	40	1		1	PCSK2	20	17462592	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		17462592	45562928	16	29215											
IL2RB	3560	broad.mit.edu	37	chr22	37524372	37524372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggactcctggggtgggagGccccaggggctgggggtccc	21	11	0	0			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr22:37524372G>A	ENST00000216223.5	-	10	1618	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	474					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGTGGGAGGCCCCAGGGGC	0.677																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1420-1422)Cct>Tct		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						16	21	19					22																	37524372		2122	4156	6278	SO:0001583	missense	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524372G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1420C>T	22.37:g.37524372G>A	ENSP00000216223:p.Pro474Ser						p.P474S	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1618	-			474					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1420C>T	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539375	0.27475	.	.	ENSG00000100385	ENST00000216223	T	0.08720	3.06	4.02	-0.864	0.10666	.	9.025830	0.00481	N	0.000121	T	0.08582	0.0213	L	0.51422	1.61	0.09310	N	1	B	0.30937	0.301	B	0.30572	0.117	T	0.25745	-1.0123	10	0.28530	T	0.3	0.0371	2.008	0.03481	0.1801:0.1556:0.504:0.1604	.	474	P14784	IL2RB_HUMAN	S	474	ENSP00000216223:P474S	ENSP00000216223:P474S	P	-	1	0	IL2RB	35854318	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.143000	0.16115	-0.149000	0.11215	-0.176000	0.13171	CCT		0.677	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			22	43	0	0	0	1	0	22	43					A	37524372	G	A	37524372	3	1	264	1	0	0	0	0	1	0	0	0	7687	1203	42	2	239	2	IL2RB	22	37524372	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		37524372	13780194	17	29216											
SYAP1	94056	broad.mit.edu	37	chrX	16774794	16774794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttcttagaggcagtaCggcccaaaacgccacccgtt	8	15	2	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:16774794C>A	ENST00000380155.3	+	7	826	c.733C>A	c.(733-735)Cgg>Agg	p.R245R		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	245						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343																																						ENST00000380155.3																			0				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10						c.(733-735)Cgg>Agg		synapse associated protein 1							82	75	77					X																	16774794		2203	4300	6503	SO:0001819	synonymous_variant	94056							g.chrX:16774794C>A	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"SAP47 homolog (Drosophila)"					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.733C>A	X.37:g.16774794C>A							p.R245R	NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN			7	826	+	Hepatocellular(33;0.0997)		245					Q68CP1|Q96C60|Q96JQ6|Q96T20	Silent	SNP	ENST00000380155.3	37	c.733C>A	CCDS14177.1																																																																																				0.343	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		9	36	1	0	7.48243e-07	1	7.67429e-07	9	36					A	16774794	C	A	16774794	2	1	264	1	0	0	0	0	0	0	0	1	15423	527	19	4		4	SYAP1	23	16774794	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08		16774794	138495766	18	29217											
MORF4L2	9643	broad.mit.edu	37	chrX	102931856	102931856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaggaggcccctctcaTtttacttctctgcatgttgc	8	13	2	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:102931856T>C	ENST00000441076.2	-	4	404	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	MORF4L2_ENST00000422154.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000451301.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000423833.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000360458.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000492116.1_5'UTR	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	34					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCCTCTCATTTTACTTCTC	0.488																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(100-102)Atg>Gtg		mortality factor 4 like 2							73	73	73					X																	102931856		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931856T>C	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"MORF-related gene X"	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.100A>G	X.37:g.102931856T>C	ENSP00000391969:p.Met34Val					MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000372620.1_Intron|MORF4L2_ENST00000441076.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000360458.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000451301.1_Missense_Mutation_p.M34V	p.M34V			Q15014	MO4L2_HUMAN			3	1325	-			34					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.100A>G	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	9.723	1.160282	0.21454	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614;ENST00000422355	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	4.43	4.43	0.53597	.	0.079337	0.85682	D	0.000000	T	0.19604	0.0471	N	0.24115	0.695	0.50632	D	0.999885	B	0.25312	0.123	B	0.20184	0.028	T	0.05733	-1.0867	10	0.29301	T	0.29	-2.6251	10.9547	0.47351	0.0:0.0:0.0:1.0	.	34	Q15014	MO4L2_HUMAN	V	34	ENSP00000353643:M34V;ENSP00000415476:M34V;ENSP00000394417:M34V;ENSP00000410532:M34V;ENSP00000391969:M34V;ENSP00000416120:M34V	ENSP00000353643:M34V	M	-	1	0	MORF4L2	102818512	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.850000	0.62889	1.951000	0.56629	0.486000	0.48141	ATG		0.488	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		52	61	0	0	0	1	0	52	61					C	102931856	T	C	102931856	3	2	264	1	0	0	0	0	1	0	0	0	9707	1493	52	3	770	3	MORF4L2	23	102931856	Missense_Mutation	SNP	T	TCGA-HT-7681-01A-11D-2395-08	86157062	102931856	52338704	19	29218											
AFF2	2334	broad.mit.edu	37	chrX	148049222	148049222	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcacaaagctgatgcactGgtaagtttcctttttctcat	7	9	1	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:148049222G>T	ENST00000370460.2	+	15	3746	c.3267G>T	c.(3265-3267)ctG>ctT	p.L1089L	AFF2_ENST00000286437.5_Splice_Site_p.L730L|AFF2_ENST00000370457.5_Splice_Site_p.L1054L|AFF2_ENST00000342251.3_Splice_Site_p.L1056L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1089					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e15+1		AF4/FMR2 family, member 2							155	140	145					X																	148049222		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148049222G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3267+1G>T	X.37:g.148049222G>T						AFF2_ENST00000370457.5_Splice_Site_p.L1054_splice|AFF2_ENST00000286437.5_Splice_Site_p.L730_splice|AFF2_ENST00000342251.3_Splice_Site_p.L1056_splice	p.L1089_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			15	3746	+	Acute lymphoblastic leukemia(192;6.56e-05)		1089					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37	c.3267_splice	CCDS14684.1																																																																																				0.348	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Silent	20	45	1	0	2.37509e-13	1	2.5001e-13	20	45					T	148049222	G	T	148049222	5	4	264	1	0	0	0	0	0	0	1	0	357	1362	47	4	3380	4	AFF2	23	148049222	Splice_Site	SNP	G	TCGA-HT-7681-01A-11D-2395-08	45117366	148049222	7221338	20	29219											
ALG6	29929	broad.mit.edu	37	chr1	63876858	63876858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctttgtggggtgttcTtggaatatcttgtgactgcg	13	6	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr1:63876858T>C	ENST00000371108.4	+	8	841	c.536T>C	c.(535-537)cTt>cCt	p.L179P	ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	179					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|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)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGGTGTTCTTGGAATATCT	0.363																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(535-537)cTt>cCt		ALG6, alpha-1,3-glucosyltransferase							226	223	224					1																	63876858		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63876858T>C	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.536T>C	1.37:g.63876858T>C	ENSP00000360149:p.Leu179Pro					ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	p.L179P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			8	841	+			179					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.536T>C	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857840	0.71834	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.84070	-1.8;-1.8	5.46	4.31	0.51392	.	0.122635	0.56097	D	0.000034	D	0.83760	0.5324	M	0.68952	2.095	0.80722	D	1	D	0.57571	0.98	P	0.60236	0.871	T	0.83148	-0.0105	10	0.37606	T	0.19	-15.5994	12.8893	0.58061	0.0:0.0:0.1359:0.8641	.	181	A2A2G4	.	P	179;181	ENSP00000360149:L179P;ENSP00000263440:L181P	ENSP00000263440:L181P	L	+	2	0	ALG6	63649446	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.501000	0.81600	1.001000	0.39076	0.482000	0.46254	CTT		0.363	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		40	109	0	0	0	1	0	40	109					C	63876858	T	C	63876858	3	2	265	1	0	0	0	0	1	0	0	0	522	1609	56	3	562	3	ALG6	1	63876858	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		63876858	185373763	1	29220											
C2orf16	84226	broad.mit.edu	37	chr2	27799838	27799838	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcagtttgcaaaatatgcAgagatgatcccacagccaaa	7	10	1	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:27799838A>T	ENST00000408964.2	+	1	450	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	133						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATATGCAGAGATGATCC	0.383																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(397-399)gcA>gcT		chromosome 2 open reading frame 16							73	68	70					2																	27799838		1854	4106	5960	SO:0001819	synonymous_variant	84226							g.chr2:27799838A>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.399A>T	2.37:g.27799838A>T							p.A133A	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	450	+	Acute lymphoblastic leukemia(172;0.155)		133					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.399A>T	CCDS42666.1																																																																																				0.383	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		4	74	0	0	0	1	0	4	74					T	27799838	A	T	27799838	2	4	265	1	0	0	0	0	0	0	0	1	2157	175	7	5		5	C2orf16	2	27799838	Silent	SNP	A	TCGA-HT-7684-01A-11D-2253-08		27799838	215399535	2	29221											
LRP2	4036	broad.mit.edu	37	chr2	170038748	170038748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttggcatccacacagtgCtgggccagcatgcggcggtg	15	11	0	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:170038748C>T	ENST00000263816.3	-	51	10212	c.9927G>A	c.(9925-9927)caG>caA	p.Q3309Q	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3309					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)"	CCACACAGTGCTGGGCCAGCA	0.532																																						ENST00000263816.3																			0				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						c.(9925-9927)caG>caA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						167	154	158					2																	170038748		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038748C>T		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.9927G>A	2.37:g.170038748C>T						LRP2_ENST00000461418.1_5'UTR	p.Q3309Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	51	10212	-			3309					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9927G>A	CCDS2232.1																																																																																				0.532	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		31	69	0	0	0	1	0	31	69					T	170038748	C	T	170038748	2	4	265	1	0	0	0	0	0	0	0	1	8956	796	28	2		2	LRP2	2	170038748	Silent	SNP	C	TCGA-HT-7684-01A-11D-2253-08	142238910	170038748	73160625	3	29222											
ANKAR	150709	broad.mit.edu	37	chr2	190585366	190585366	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaatcccaagcctgataAatctattgaacttaaacata	5	8	1	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:190585366A>C	ENST00000520309.1	+	12	2576	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H|ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	830						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)			AAGCCTGATAAATCTATTGAA	0.284																																						ENST00000520309.1																			0				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						c.(2488-2490)Aat>Cat		ankyrin and armadillo repeat containing							96	107	103					2																	190585366		2203	4298	6501	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190585366A>C	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.2488A>C	2.37:g.190585366A>C	ENSP00000427882:p.Asn830His					ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H	p.N830H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		12	2576	+			830					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2488A>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309216	0.23821	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.54	4.54	0.55810	.	0.249386	0.31531	N	0.007481	T	0.17916	0.0430	N	0.11106	0.095	0.33309	D	0.565881	.	.	.	.	.	.	T	0.27054	-1.0085	8	0.21540	T	0.41	-14.0229	9.5905	0.39543	0.8237:0.1763:0.0:0.0	.	.	.	.	H	830;830;830;759;594	ENSP00000427882:N830H;ENSP00000313513:N830H;ENSP00000397243:N830H;ENSP00000393043:N759H;ENSP00000281412:N594H	ENSP00000281412:N594H	N	+	1	0	ANKAR	190293611	1.000000	0.71417	0.997000	0.53966	0.061000	0.15899	2.742000	0.47434	2.054000	0.61138	0.533000	0.62120	AAT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		16	44	0	0	0	1	0	16	44					C	190585366	A	C	190585366	3	2	265	1	0	0	0	0	1	0	0	0	623	14	1	5	2530	5	ANKAR	2	190585366	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	20546618	190585366	52614007	4	29223											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	34	0	0	0	1	0	28	34					T	209113112	C	T	209113112	3	4	265	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	18527746	209113112	34086261	5	29224											
SETD2	29072	broad.mit.edu	37	chr3	47103767	47103767	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtctgggtctctctctcttGacctattaggagtcttcggg	11	10	5	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:47103767G>C	ENST00000409792.3	-	14	6221	c.6179C>G	c.(6178-6180)tCa>tGa	p.S2060*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2060					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTCTCTTGACCTATTAGG	0.463			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6178-6180)tCa>tGa		SET domain containing 2							277	279	279					3																	47103767		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103767G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6179C>G	3.37:g.47103767G>C	ENSP00000386759:p.Ser2060*					SETD2_ENST00000492397.1_5'UTR	p.S2060*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6221	-		Acute lymphoblastic leukemia(5;0.0169)	2060					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6179C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	44	10.883648	0.99483	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.58	3.69	0.42338	.	0.825709	0.10143	N	0.710582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.0789	0.42377	0.0:0.1922:0.6766:0.1312	.	.	.	.	X	2060	.	ENSP00000386759:S2060X	S	-	2	0	SETD2	47078771	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	3.105000	0.50314	1.253000	0.44018	0.455000	0.32223	TCA		0.463	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		6	128	0	0	0	1	0	6	128					C	47103767	G	C	47103767	4	2	265	1	0	0	0	0	0	1	0	0	14131	1294	45	4	1547	4	SETD2	3	47103767	Nonsense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		47103767	150918663	6	29225											
CCDC54	84692	broad.mit.edu	37	chr3	107097101	107097101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaaaactctgaagaaaCgtaaccatcaaaatgcatca	5	8	3	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:107097101C>T	ENST00000261058.1	+	1	914	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	223										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCTGAAGAAACGTAACCATCA	0.378																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(667-669)Cgt>Tgt		coiled-coil domain containing 54							75	78	77					3																	107097101		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107097101C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.667C>T	3.37:g.107097101C>T	ENSP00000261058:p.Arg223Cys						p.R223C	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	914	+			223					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.667C>T	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283486	0.10458	.	.	ENSG00000138483	ENST00000261058	T	0.48201	0.82	5.09	1.05	0.20165	.	1.691010	0.03213	N	0.176393	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	B	0.41723	0.365	T	0.22243	-1.0222	10	0.54805	T	0.06	1.6117	5.2927	0.15735	0.5454:0.3591:0.0955:0.0	.	223	Q8NEL0	CCD54_HUMAN	C	223	ENSP00000261058:R223C	ENSP00000261058:R223C	R	+	1	0	CCDC54	108579791	0.664000	0.27457	0.028000	0.17463	0.228000	0.25075	1.126000	0.31344	0.273000	0.22049	-1.443000	0.01068	CGT		0.378	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		27	36	0	0	0	1	0	27	36					T	107097101	C	T	107097101	3	4	265	1	0	0	0	0	1	0	0	0	2824	536	19	1	669	1	CCDC54	3	107097101	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	59993334	107097101	90925329	7	29226											
SLC9A10	285335	broad.mit.edu	37	chr3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtgctctataagtttttCgtaacagacaatcttctaca	6	8	3	1	rs377402243		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					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)	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323																																						ENST00000305815.5																			1	Substitution - Missense(1)	p.R1064Q(1)	skin(1)								c.(3190-3192)cGa>cAa		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1		C	GLN/ARG	0,4404		0,0,2202	125	131	129		3191	0.7	0.1	3		129	2,8596	2.2+/-6.3	0,2,4297	no	missense	SLC9A10	NM_183061.1	43	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1064/1178	111887770	2,13000	2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887770C>T	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.3191G>A	3.37:g.111887770C>T	ENSP00000306627:p.Arg1064Gln					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	p.R1064Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			25	3443	-			1064					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.3191G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	7.887	0.731570	0.15507	0.0	2.33E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78246	-1.16;-1.16	6.06	0.733	0.18289	.	0.677608	0.13656	N	0.371958	T	0.61048	0.2316	L	0.31926	0.97	0.24446	N	0.994508	P;P	0.45176	0.608;0.852	B;B	0.34301	0.179;0.032	T	0.51268	-0.8727	10	0.46703	T	0.11	0.5387	9.0873	0.36590	0.0:0.5854:0.0:0.4146	.	1016;1064	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Q	1064;1016	ENSP00000306627:R1064Q;ENSP00000420688:R1016Q	ENSP00000306627:R1064Q	R	-	2	0	SLC9A10	113370460	0.376000	0.25098	0.116000	0.21606	0.014000	0.08584	0.358000	0.20216	0.168000	0.19655	-0.808000	0.03180	CGA		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		19	48	0	0	0	1	0	19	48					T	111887770	C	T	111887770	3	4	265	1	0	0	0	0	1	0	0	0	14710	884	31	1	362	1	SLC9A10	3	111887770	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	4790669	111887770	86134660	8	29227											
TRPC7	57113	broad.mit.edu	37	chr5	135561020	135561020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagattttcagaattcctcAtgccagcctggtagcgagtc	9	11	3	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr5:135561020A>G	ENST00000513104.1	-	10	2567	c.2285T>C	c.(2284-2286)aTg>aCg	p.M762T	TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T|TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	762					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)			AGAATTCCTCATGCCAGCCTG	0.453																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(2284-2286)aTg>aCg		transient receptor potential cation channel, subfamily C, member 7							138	137	137					5																	135561020		1947	4144	6091	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135561020A>G	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.2285T>C	5.37:g.135561020A>G	ENSP00000426070:p.Met762Thr					TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T|TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T	p.M762T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	2567	-			762					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.2285T>C	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	A	3.662	-0.069404	0.07228	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79554	-1.28;-1.28;-1.28	5.01	3.84	0.44239	.	0.640442	0.17683	N	0.165561	T	0.59715	0.2214	N	0.11560	0.145	0.29390	N	0.862657	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.49031	-0.8981	10	0.14252	T	0.57	-14.0363	7.976	0.30155	0.7912:0.1361:0.0727:0.0	.	646;701;707;762	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	T	701;646;762;762	ENSP00000347312:M701T;ENSP00000441628:M646T;ENSP00000426070:M762T	ENSP00000265193:M762T	M	-	2	0	TRPC7	135588919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.650000	0.37292	0.928000	0.37168	0.533000	0.62120	ATG		0.453	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		6	12	0	0	0	1	0	6	12					G	135561020	A	G	135561020	3	3	265	1	0	0	0	0	1	0	0	0	16581	217	8	3	315	3	TRPC7	5	135561020	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08		135561020	45354240	9	29228											
LY6G6D	58530	broad.mit.edu	37	chr6	31685399	31685399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatccagcctgcgtcgcaGcccatcattgcaatcaagtg	8	14	2	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:31685399G>A	ENST00000375825.3	+	3	220	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T|MEGT1_ENST00000503322.1_Missense_Mutation_p.A323T	NM_021246.2	NP_067069.2	O95868	LY66D_HUMAN	lymphocyte antigen 6 complex, locus G6D	74	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|plasma membrane (GO:0005886)				central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGCGTCGCAGCCCATCATTG	0.577																																						ENST00000503322.1																			0											c.(967-969)Gcc>Acc									202	202	202					6																	31685399		2203	4300	6503	SO:0001583	missense	0							g.chr6:31685399G>A		CCDS34404.1	6p21.3	2008-08-29	2002-07-29	2002-08-01	ENSG00000244355	ENSG00000244355			13935	protein-coding gene	gene with protein product		606038	"chromosome 6 open reading frame 23"	C6orf23		12079290	Standard	NM_021246		Approved	MEGT1, Ly6-D, G6D, LY6-D, NG25		O95868	OTTHUMG00000137370	ENST00000375825.3:c.220G>A	6.37:g.31685399G>A	ENSP00000364985:p.Ala74Thr					LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T|LY6G6D_ENST00000375825.3_Missense_Mutation_p.A74T	p.A323T							6	970	+								A2BEY8|B0UXC1|B0V019|B0V1Y6|Q4VX50	Missense_Mutation	SNP	ENST00000375825.3	37	c.967G>A	CCDS34404.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.79|12.79	2.043099|2.043099	0.36085|0.36085	.|.	.|.	ENSG00000204424;ENSG00000250641;ENSG00000244355|ENSG00000244355	ENST00000556581;ENST00000503322;ENST00000375825|ENST00000375824	T;T;T|T	0.69435|0.36878	2.6;2.6;-0.4|1.23	5.54|5.54	2.52|2.52	0.30459|0.30459	.|.	0.703054|.	0.11759|.	N|.	0.532254|.	T|T	0.09512|0.09512	0.0234|0.0234	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	B;B|.	0.25563|.	0.129;0.02|.	B;B|.	0.23419|.	0.046;0.007|.	T|T	0.37572|0.37572	-0.9700|-0.9700	10|7	0.23302|0.17832	T|T	0.38|0.49	.|.	3.5527|3.5527	0.07853|0.07853	0.2106:0.0:0.583:0.2064|0.2106:0.0:0.583:0.2064	.|.	74;323|.	O95868;Q9NZJ1|.	LY66D_HUMAN;.|.	T|N	323;323;74|114	ENSP00000452432:A323T;ENSP00000421232:A323T;ENSP00000364985:A74T|ENSP00000364984:S114N	ENSP00000364985:A74T|ENSP00000364984:S114N	A|S	+|+	1|2	0|0	LY6G6D;XXbac-BPG32J3.19;LY6G6F|LY6G6D	31793378|31793378	0.001000|0.001000	0.12720|0.12720	0.045000|0.045000	0.18777|0.18777	0.992000|0.992000	0.81027|0.81027	0.846000|0.846000	0.27682|0.27682	0.184000|0.184000	0.20083|0.20083	0.645000|0.645000	0.84053|0.84053	GCC|AGC		0.577	LY6G6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144875.2			74	141	0	0	0	1	0	74	141					A	31685399	G	A	31685399	3	1	265	1	0	0	0	0	1	0	0	0	9095	971	34	2	230	2	LY6G6D	6	31685399	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		31685399	139429668	10	29229											
DST	667	broad.mit.edu	37	chr6	56483529	56483529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgaaatatcattttcaGtgatgactttggactccatt	7	8	2	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:56483529G>A	ENST00000370765.6	-	23	5410	c.5303C>T	c.(5302-5304)aCt>aTt	p.T1768I	DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6505					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)			ATCATTTTCAGTGATGACTTT	0.358																																						ENST00000370765.6																			0				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						c.(5302-5304)aCt>aTt		dystonin							104	104	104					6																	56483529		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483529G>A	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.5303C>T	6.37:g.56483529G>A	ENSP00000359801:p.Thr1768Ile					DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron	p.T1768I	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5410	-	Lung NSC(77;0.103)		1162					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	ENST00000370765.6	37	c.5303C>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288498	0.59976	.	.	ENSG00000151914	ENST00000370765	T	0.30182	1.54	5.49	5.49	0.81192	.	.	.	.	.	T	0.33411	0.0862	.	.	.	0.09310	N	0.999999	D	0.55172	0.97	P	0.52957	0.714	T	0.00953	-1.1502	7	0.27082	T	0.32	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	1768	Q03001-3	.	I	1768	ENSP00000359801:T1768I	ENSP00000359801:T1768I	T	-	2	0	DST	56591488	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.064000	0.57506	2.731000	0.93534	0.650000	0.86243	ACT		0.358	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		17	49	0	0	0	1	0	17	49					A	56483529	G	A	56483529	3	1	265	1	0	0	0	0	1	0	0	0	4783	1029	36	2	15100	2	DST	6	56483529	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	24798130	56483529	114631538	11	29230											
EEF1A1	1915	broad.mit.edu	37	chr6	74229668	74229668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaccgcatttatagaTcagatggccagtagtggtgg	13	8	1	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:74229668T>C	ENST00000316292.9	-	1	1073	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	28	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						CATTTATAGATCAGATGGCCA	0.413																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(82-84)Atc>Gtc		eukaryotic translation elongation factor 1 alpha 1							78	81	80					6																	74229668		2203	4297	6500	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229668T>C	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.82A>G	6.37:g.74229668T>C	ENSP00000339063:p.Ile28Val					EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V	p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1073	-			28					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.82A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397269	0.42512	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	T	0.60625	0.2283	M	0.77616	2.38	0.80722	D	1	B;B;B;B;B	0.19073	0.001;0.012;0.033;0.012;0.033	B;B;B;B;B	0.32090	0.007;0.057;0.14;0.057;0.14	T	0.68949	-0.5274	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	28;28;28;28;28	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	V	28	ENSP00000339063:I28V;ENSP00000339053:I28V;ENSP00000330054:I28V;ENSP00000348651:I28V;ENSP00000392366:I28V	ENSP00000339053:I28V	I	-	1	0	EEF1A1	74286389	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.715000	0.84713	1.874000	0.54306	0.454000	0.30748	ATC		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		13	36	0	0	0	1	0	13	36					C	74229668	T	C	74229668	3	2	265	1	0	0	0	0	1	0	0	0	4923	1435	50	3	1334	3	EEF1A1	6	74229668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	17746139	74229668	96885399	12	29231											
CD36	948	broad.mit.edu	37	chr7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcaagttaagcaaagaGgtccttatacgtacaggtga	9	7	1	2	rs374729345		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:80286000G>A	ENST00000435819.1	+	7	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	89					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 cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(265-267)Ggt>Agt		CD36 molecule (thrombospondin receptor)		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	93	86	88		265,265,265,265,265	4.7	1	7		88	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	56,56,56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	89/473,89/473,89/473,89/473,89/473	80286000	1,13005	2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80286000G>A	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.265G>A	7.37:g.80286000G>A	ENSP00000399421:p.Gly89Ser					CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S	p.G89S			P16671	CD36_HUMAN			7	949	+			89					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.265G>A	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448082	0.84101	2.27E-4	0.0	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.53	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	9	.	.	.	-20.8563	13.6569	0.62344	0.076:0.0:0.924:0.0	.	89	P16671	CD36_HUMAN	S	89;89;13;89;89;89;89;89;89;89;89;89;89;89;89	ENSP00000399421:G89S;ENSP00000308165:G89S;ENSP00000431296:G13S;ENSP00000410371:G89S;ENSP00000398760:G89S;ENSP00000409762:G89S;ENSP00000378268:G89S;ENSP00000415743:G89S;ENSP00000416388:G89S;ENSP00000411411:G89S;ENSP00000407690:G89S;ENSP00000392298:G89S;ENSP00000439543:G89S;ENSP00000441956:G89S;ENSP00000401863:G89S	.	G	+	1	0	CD36	80123936	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	6.652000	0.74377	1.469000	0.48083	0.655000	0.94253	GGT		0.398	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		3	70	0	0	0	1	0	3	70					A	80286000	G	A	80286000	3	1	265	1	0	0	0	0	1	0	0	0	3007	1000	35	2	271	2	CD36	7	80286000	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		80286000	78852663	13	29232											
SSPO	23145	broad.mit.edu	37	chr7	149482723	149482723	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgagaggccagtggcCtattcacagtctctgcccag	13	12	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:149482723C>G	ENST00000378016.2	+	0	3139							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)			GGCCAGTGGCCTATTCACAGT	0.627																																						ENST00000378016.2																			0													SCO-spondin							21	26	24					7																	149482723		2083	4200	6283			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482723C>G	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.149482723C>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3139	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	7	0	0	0	1	0	4	7					G	149482723	C	G	149482723	1	3	265	0	1	0	0	0	0	0	0	0	15188	680	24	4		4	SSPO	7	149482723	RNA	SNP	C	TCGA-HT-7684-01A-11D-2253-08	69196723	149482723	9655940	14	29233											
KIF13B	23303	broad.mit.edu	37	chr8	29039519	29039519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactttcaacgtctgacGgcttctgttcatgaaaaaca	7	10	5	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr8:29039519G>A	ENST00000524189.1	-	7	540	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	168	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)		AACGTCTGACGGCTTCTGTTC	0.373																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(502-504)Cgt>Tgt		kinesin family member 13B							111	102	105					8																	29039519		1843	4092	5935	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29039519G>A	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.502C>T	8.37:g.29039519G>A	ENSP00000427900:p.Arg168Cys					KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	7	540	-		Ovarian(32;0.000536)	168			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.502C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886102	0.72410	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.76186	-1.0;-1.0	5.42	5.42	0.78866	Kinesin, motor domain (4);	0.178036	0.50627	D	0.000115	D	0.85470	0.5704	M	0.71920	2.185	0.80722	D	1	D;D;B	0.89917	0.997;1.0;0.427	P;D;B	0.65874	0.761;0.939;0.145	D	0.86337	0.1702	10	0.87932	D	0	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	154;168;168	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	C	168	ENSP00000427900:R168C;ENSP00000429201:R168C	ENSP00000429201:R168C	R	-	1	0	KIF13B	29095438	1.000000	0.71417	0.986000	0.45419	0.916000	0.54674	2.208000	0.42797	2.817000	0.96982	0.563000	0.77884	CGT		0.373	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			3	39	0	0	0	1	0	3	39					A	29039519	G	A	29039519	3	1	265	1	0	0	0	0	1	0	0	0	8275	1116	39	1	5114	1	KIF13B	8	29039519	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29039519	117324503	15	29234											
NOL8	55035	broad.mit.edu	37	chr9	95077012	95077012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccattcgccttctttgcaTgttggcatggagtcacttca	10	11	3	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:95077012T>C	ENST00000535387.1	-	6	1894	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NOL8_ENST00000542053.1_Missense_Mutation_p.H564R|NOL8_ENST00000358855.4_Missense_Mutation_p.H564R|NOL8_ENST00000545558.1_Missense_Mutation_p.H632R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCTTTGCATGTTGGCATGG	0.453																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1894-1896)cAt>cGt		nucleolar protein 8							74	65	68					9																	95077012		1919	4135	6054	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077012T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1895A>G	9.37:g.95077012T>C	ENSP00000441300:p.His632Arg					NOL8_ENST00000535387.1_Missense_Mutation_p.H632R|NOL8_ENST00000542053.1_Missense_Mutation_p.H564R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R|NOL8_ENST00000358855.4_Missense_Mutation_p.H564R	p.H632R			Q76FK4	NOL8_HUMAN			7	2387	-			632						Missense_Mutation	SNP	ENST00000535387.1	37	c.1895A>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	0.414	-0.911749	0.02434	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.26	-0.569	0.11756	.	0.966660	0.08627	N	0.917649	T	0.22166	0.0534	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21280	-1.0250	10	0.09338	T	0.73	0.019	2.0323	0.03532	0.1228:0.3494:0.1804:0.3475	.	632	Q76FK4	NOL8_HUMAN	R	632;634;564;632;632;564;632	ENSP00000401177:H632R;ENSP00000351723:H564R;ENSP00000441140:H632R;ENSP00000441300:H632R;ENSP00000440709:H564R;ENSP00000414112:H632R	ENSP00000351723:H564R	H	-	2	0	NOL8	94116833	0.011000	0.17503	0.001000	0.08648	0.100000	0.18952	-0.014000	0.12656	-0.365000	0.08076	-0.372000	0.07161	CAT		0.453	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		5	10	0	0	0	1	0	5	10					C	95077012	T	C	95077012	3	2	265	1	0	0	0	0	1	0	0	0	10527	1464	51	3	1652	3	NOL8	9	95077012	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		95077012	46136419	16	29235											
TBC1D2	55357	broad.mit.edu	37	chr9	100991314	100991314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcagttcggttccGtgtgattccttcagaaaaga	11	10	1	3	rs371031377		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:100991314G>A	ENST00000375064.1	-	5	936	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.R300W	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	300	Interaction with RAC1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCGGTTCCGTGTGATTCCT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19696	0.0		0.0	False		,,,				2504	0.001					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(898-900)Cgg>Tgg		TBC1 domain family, member 2		G	TRP/ARG	0,4406		0,0,2203	143	121	129		898	0.1	0	9		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	TBC1D2	NM_018421.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	300/918	100991314	1,13005	2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100991314G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.898C>T	9.37:g.100991314G>A	ENSP00000364205:p.Arg300Trp					TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R300W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W	p.R300W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	5	989	-		Myeloproliferative disorder(762;0.0255)	300			Interaction with RAC1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.898C>T		.	.	.	.	.	.	.	.	.	.	G	10.54	1.377563	0.24944	0.0	1.16E-4	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14391	2.51;2.92;2.51	5.49	0.139	0.14798	.	0.425407	0.21930	N	0.067040	T	0.26810	0.0656	M	0.67953	2.075	0.30887	N	0.730823	D;D	0.89917	1.0;1.0	D;D	0.70935	0.936;0.971	T	0.11916	-1.0568	10	0.54805	T	0.06	.	5.7484	0.18132	0.2197:0.0:0.5487:0.2317	.	300;300	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	300;300;82	ENSP00000364205:R300W;ENSP00000364207:R300W;ENSP00000341567:R82W	ENSP00000341567:R82W	R	-	1	2	TBC1D2	100031135	0.003000	0.15002	0.000000	0.03702	0.181000	0.23173	0.216000	0.17585	-0.214000	0.10078	-1.814000	0.00607	CGG		0.522	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		11	34	0	0	0	1	0	11	34					A	100991314	G	A	100991314	3	1	265	1	0	0	0	0	1	0	0	0	15605	1144	40	1	1891	1	TBC1D2	9	100991314	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	5914302	100991314	40222117	17	29236											
OR13D1	286365	broad.mit.edu	37	chr9	107456818	107456818	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catggagacaagaaattactCtgccatgactgaattctttc	7	9	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:107456818C>G	ENST00000318763.5	+	1	159	c.116C>G	c.(115-117)tCt>tGt	p.S39C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGAAATTACTCTGCCATGACT	0.423																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(115-117)tCt>tGt		olfactory receptor, family 13, subfamily D, member 1							72	70	71					9																	107456818		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456818C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.116C>G	9.37:g.107456818C>G	ENSP00000317357:p.Ser39Cys						p.S39C	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	159	+			39					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.116C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527213	0.64860	.	.	ENSG00000179055	ENST00000318763	T	0.54675	0.56	3.65	3.65	0.41850	.	0.295217	0.23732	N	0.045111	T	0.72938	0.3523	M	0.89478	3.035	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.67118	-0.5751	10	0.87932	D	0	.	13.0232	0.58800	0.0:1.0:0.0:0.0	.	39	Q8NGV5	O13D1_HUMAN	C	39	ENSP00000317357:S39C	ENSP00000317357:S39C	S	+	2	0	OR13D1	106496639	0.138000	0.22547	0.040000	0.18447	0.602000	0.36980	2.638000	0.46562	1.907000	0.55213	0.596000	0.82720	TCT		0.423	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			7	24	0	0	0	1	0	7	24					G	107456818	C	G	107456818	3	3	265	1	0	0	0	0	1	0	0	0	10940	913	32	4	118	4	OR13D1	9	107456818	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	6465504	107456818	33756613	18	29237											
MUSK	4593	broad.mit.edu	37	chr9	113562782	113562782	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgcattgccaggcaGgtggcagctggcatggctta	14	10	0	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:113562782G>C	ENST00000374448.4	+	15	2258	c.2124G>C	c.(2122-2124)caG>caC	p.Q708H	MUSK_ENST00000416899.2_Missense_Mutation_p.Q700H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	708	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						TTGCCAGGCAGGTGGCAGCTG	0.567																																						ENST00000416899.2																			0				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						c.(2098-2100)caG>caC		muscle, skeletal, receptor tyrosine kinase							114	118	117					9																	113562782		2021	4164	6185	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562782G>C	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.2124G>C	9.37:g.113562782G>C	ENSP00000363571:p.Gln708His					MUSK_ENST00000374448.4_Missense_Mutation_p.Q708H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H	p.Q700H			O15146	MUSK_HUMAN			13	2226	+			708			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2100G>C	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459096	0.43634	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.57436	0.4	5.45	3.58	0.41010	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	0.74107	0.3673	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.76146	-0.3066	10	0.87932	D	0	.	11.9391	0.52890	0.2075:0.0:0.7925:0.0	.	708	O15146	MUSK_HUMAN	H	714;708;708;622;622;706	ENSP00000363571:Q708H	ENSP00000189978:Q714H	Q	+	3	2	MUSK	112602603	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	2.965000	0.49200	0.348000	0.23949	-0.813000	0.03139	CAG		0.567	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				28	94	0	0	0	1	0	28	94					C	113562782	G	C	113562782	3	2	265	1	0	0	0	0	1	0	0	0	9989	991	35	4	2214	4	MUSK	9	113562782	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	6105964	113562782	27650649	19	29238											
PTGS1	5742	broad.mit.edu	37	chr9	125154668	125154668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactggaagccgagcacaTttggcggcgaggtgggcttt	16	8	0	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:125154668T>G	ENST00000362012.2	+	11	1650	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	549					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCGAGCACATTTGGCGGCGA	0.537																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1645-1647)Ttt>Gtt		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						113	110	111					9																	125154668		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154668T>G	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1645T>G	9.37:g.125154668T>G	ENSP00000354612:p.Phe549Val					PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	p.F549V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			11	1650	+			549					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1645T>G	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250036	0.80024	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.71563	-0.4555	10	0.87932	D	0	-17.3479	14.6441	0.68748	0.0:0.0:0.0:1.0	.	487;549;512	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	V	487;549;512;440	ENSP00000437709:F487V;ENSP00000354612:F549V;ENSP00000223423:F512V;ENSP00000362802:F440V	ENSP00000223423:F512V	F	+	1	0	PTGS1	124194489	1.000000	0.71417	0.986000	0.45419	0.452000	0.32318	8.036000	0.88901	2.055000	0.61198	0.533000	0.62120	TTT		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			20	53	0	0	0	1	0	20	53					G	125154668	T	G	125154668	3	3	265	1	0	0	0	0	1	0	0	0	12755	1493	52	5	1687	5	PTGS1	9	125154668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	11591886	125154668	16058763	20	29239											
SERPING1	710	broad.mit.edu	37	chr11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctgaagctctaccacGccttctcagcaatgaagaag	7	14	3	3	rs139035354		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:57367766G>A	ENST00000278407.4	+	3	693	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SERPING1_ENST00000403558.1_Missense_Mutation_p.A190T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T|SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17777	0.001		0.0	False		,,,				2504	0.0					ENST00000403558.1																			1	Substitution - Missense(1)	p.A156T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27	GRCh37	CM083117	SERPING1	M	rs139035354	c.(568-570)Gcc>Acc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1		G	THR/ALA,THR/ALA	0,4402		0,0,2201	103	104	103		466,466	5	0.7	11	dbSNP_134	103	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	SERPING1	NM_000062.2,NM_001032295.1	58,58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	156/501,156/501	57367766	1,12993	2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57367766G>A	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.466G>A	11.37:g.57367766G>A	ENSP00000278407:p.Ala156Thr					SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000278407.4_Missense_Mutation_p.A156T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T	p.A190T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			2	934	+			156					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.568G>A	CCDS7962.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.40	1.339923	0.24339	0.0	1.16E-4	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.93133	-3.17;-1.93;-1.93;-1.93;-1.93;-1.93	5.94	5.03	0.67393	Serpin domain (3);	0.635091	0.16981	N	0.191714	D	0.91274	0.7249	M	0.75264	2.295	0.33964	D	0.645938	P;P;P;P	0.45768	0.662;0.866;0.662;0.662	B;B;B;B	0.39299	0.173;0.296;0.173;0.173	D	0.91226	0.5010	10	0.17832	T	0.49	.	11.3668	0.49677	0.0833:0.0:0.9167:0.0	.	161;190;156;156	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	T	156;156;156;161;104;190	ENSP00000384561:A156T;ENSP00000278407:A156T;ENSP00000341861:A156T;ENSP00000367574:A161T;ENSP00000367575:A104T;ENSP00000384420:A190T	ENSP00000278407:A156T	A	+	1	0	SERPING1	57124342	0.707000	0.27866	0.710000	0.30468	0.398000	0.30690	1.380000	0.34351	1.531000	0.49152	0.561000	0.74099	GCC		0.542	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		49	62	0	0	0	1	0	49	62					A	57367766	G	A	57367766	3	1	265	1	0	0	0	0	1	0	0	0	14116	1087	38	1	472	1	SERPING1	11	57367766	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		57367766	77638750	21	29240											
MS4A14	84689	broad.mit.edu	37	chr11	60183353	60183353	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtcactccaagttttTccatcccattctgcactaaa	5	14	2	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:60183353T>C	ENST00000300187.6	+	5	1189	c.912T>C	c.(910-912)ttT>ttC	p.F304F	MS4A14_ENST00000531787.1_Silent_p.F192F|MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Silent_p.F287F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	304						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCCAAGTTTTTCCATCCCATT	0.423																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(910-912)ttT>ttC		membrane-spanning 4-domains, subfamily A, member 14							71	67	68					11																	60183353		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183353T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.912T>C	11.37:g.60183353T>C						MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000531787.1_Silent_p.F192F|MS4A14_ENST00000395005.2_Silent_p.F287F|MS4A14_ENST00000395001.1_3'UTR	p.F304F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1189	+			304					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.912T>C	CCDS31569.1																																																																																				0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			23	26	0	0	0	1	0	23	26					C	60183353	T	C	60183353	2	2	265	1	0	0	0	0	0	0	0	1	9858	1780	62	3		3	MS4A14	11	60183353	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	2815587	60183353	74823163	22	29241											
CHORDC1	26973	broad.mit.edu	37	chr11	89947220	89947220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctactggcttaggggCttgaatgatgtgttcctgaa	12	7	1	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:89947220C>T	ENST00000320585.6	-	4	704	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T|CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	99	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GGCTTAGGGGCTTGAATGATG	0.393																																						ENST00000320585.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(295-297)Gcc>Acc		cysteine and histidine-rich domain (CHORD) containing 1							166	163	164					11																	89947220		2201	4298	6499	SO:0001583	missense	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89947220C>T	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1", "cysteine and histidine-rich domain (CHORD)-containing 1"			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.295G>A	11.37:g.89947220C>T	ENSP00000319255:p.Ala99Thr					CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T	p.A99T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN			4	704	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	99			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	c.295G>A	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651877	0.67472	.	.	ENSG00000110172	ENST00000320585;ENST00000457199;ENST00000530765	T;T	0.45668	0.89;0.91	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.66939	2.045	0.80722	D	1	P;P	0.45531	0.86;0.613	P;B	0.47915	0.561;0.358	T	0.50642	-0.8804	9	.	.	.	-9.8053	19.5269	0.95210	0.0:1.0:0.0:0.0	.	80;99	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	T	99;80;99	ENSP00000319255:A99T;ENSP00000401080:A80T	.	A	-	1	0	CHORDC1	89586868	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.204000	0.77872	2.611000	0.88343	0.552000	0.68991	GCC		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		5	104	0	0	0	1	0	5	104					T	89947220	C	T	89947220	3	4	265	1	0	0	0	0	1	0	0	0	3365	797	28	2	735	2	CHORDC1	11	89947220	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	29763867	89947220	45059296	23	29242											
TMTC1	83857	broad.mit.edu	37	chr12	29659825	29659825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtaatcgtttttctaggCgatccaatttggcaagattt	8	7	1	1	rs35279918		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:29659825C>T	ENST00000539277.1	-	18	2661	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000256062.5_Missense_Mutation_p.R760H	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTTCTAGGCGATCCAATTT	0.453																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2278-2280)cGc>cAc		transmembrane and tetratricopeptide repeat containing 1							264	257	260					12																	29659825		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29659825C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2603G>A	12.37:g.29659825C>T	ENSP00000442046:p.Arg868His					TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R868H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000319685.8_5'UTR	p.R760H	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			18	2752	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		868					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.2279G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318663	0.95682	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69306	-0.39;-0.19;-0.39;-0.27	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.85292	0.1068	10	0.51188	T	0.08	-14.4245	17.4952	0.87715	0.0:1.0:0.0:0.0	rs35279918	868;930;213	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	H	631;760;930;892;868	ENSP00000256062:R760H;ENSP00000448112:R930H;ENSP00000449043:R892H;ENSP00000442046:R868H	ENSP00000256062:R760H	R	-	2	0	TMTC1	29551092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.966000	0.63715	2.463000	0.83235	0.650000	0.86243	CGC		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		25	59	0	0	0	1	0	25	59					T	29659825	C	T	29659825	3	4	265	1	0	0	0	0	1	0	0	0	16257	768	27	1	49	1	TMTC1	12	29659825	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		29659825	104192070	24	29243											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	27	0	0	0	1	0	3	27					A	132547141	G	A	132547141	2	1	265	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	102887316	132547141	1304754	25	29244											
DCLK1	9201	broad.mit.edu	37	chr13	36686247	36686247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccagtgaagacactgccCgagaagccgaggtggtcttg	15	10	1	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:36686247C>T	ENST00000360631.3	-	3	693	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	DCLK1_ENST00000255448.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	161					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGACACTGCCCGAGAAGCCGA	0.522																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(481-483)cGg>cAg		doublecortin-like kinase 1							82	82	82					13																	36686247		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686247C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.482G>A	13.37:g.36686247C>T	ENSP00000353846:p.Arg161Gln					DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R161Q	p.R161Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	693	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	161					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.482G>A		.	.	.	.	.	.	.	.	.	.	C	18.78	3.697239	0.68386	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.69685	-0.42;-0.41;1.67	5.65	4.81	0.61882	.	0.124968	0.53938	D	0.000045	T	0.65544	0.2701	L	0.61218	1.895	0.58432	D	0.999999	P	0.49783	0.928	B	0.42087	0.375	T	0.70044	-0.4980	10	0.52906	T	0.07	.	14.9028	0.70692	0.0:0.9312:0.0:0.0688	.	161	O15075-2	.	Q	161	ENSP00000255448:R161Q;ENSP00000353846:R161Q;ENSP00000369222:R161Q	ENSP00000255448:R161Q	R	-	2	0	DCLK1	35584247	1.000000	0.71417	0.868000	0.34077	0.609000	0.37215	3.542000	0.53625	1.536000	0.49237	0.650000	0.86243	CGG		0.522	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		13	36	0	0	0	1	0	13	36					T	36686247	C	T	36686247	3	4	265	1	0	0	0	0	1	0	0	0	4291	652	23	1	1771	1	DCLK1	13	36686247	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		36686247	78483631	26	29245											
DIS3	22894	broad.mit.edu	37	chr13	73346337	73346337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgacaatgtagagcaTcgtctatatcagtacatcct	7	10	3	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:73346337T>C	ENST00000377767.4	-	10	1563	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	488					CUT catabolic process (GO:0071034)|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)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATGTAGAGCATCGTCTATATC	0.363										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1462-1464)gAt>gGt		DIS3 mitotic control homolog (S. cerevisiae)							113	113	113					13																	73346337		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346337T>C	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1463A>G	13.37:g.73346337T>C	ENSP00000366997:p.Asp488Gly	Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	p.D488G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	10	1563	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	488					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1463A>G	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641725	0.87859	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.66099	-0.19;-0.19;-0.19	5.48	5.48	0.80851	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.88793	0.6533	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93747	0.7055	10	0.87932	D	0	.	15.533	0.75980	0.0:0.0:0.0:1.0	.	458;488	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	G	488;458;326	ENSP00000366997:D488G;ENSP00000367011:D458G;ENSP00000440058:D326G	ENSP00000366997:D488G	D	-	2	0	DIS3	72244338	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.217000	0.72218	2.198000	0.70561	0.460000	0.39030	GAT		0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		15	23	0	0	0	1	0	15	23					C	73346337	T	C	73346337	3	2	265	1	0	0	0	0	1	0	0	0	4535	1435	50	3	1461	3	DIS3	13	73346337	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	36660090	73346337	41823541	27	29246											
MYCBP2	23077	broad.mit.edu	37	chr13	77807397	77807397	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaccagcaaatacaaggggGcctgaggagaaacattttgt	13	7	0	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:77807397G>C	ENST00000544440.2	-	18	2534	c.2517C>G	c.(2515-2517)ggC>ggG	p.G839G	MYCBP2_ENST00000357337.6_Splice_Site_p.G839G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Splice_Site_p.G877G					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)		ATACAAGGGGGCCTGAGGAGA	0.363																																						ENST00000407578.2																			0				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						c.e18-1		MYC binding protein 2, E3 ubiquitin protein ligase							96	95	96					13																	77807397		2203	4300	6503	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77807397G>C	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.2516-1C>G	13.37:g.77807397G>C						MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.G839_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.G839_splice	p.G877_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	18	2897	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	839						Splice_Site	SNP	ENST00000544440.2	37	c.2629_splice																																																																																					0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Silent	3	31	0	0	0	1	0	3	31					C	77807397	G	C	77807397	5	2	265	1	0	0	0	0	0	0	1	0	10018	1217	42	4	11669	4	MYCBP2	13	77807397	Splice_Site	SNP	G	TCGA-HT-7684-01A-11D-2253-08	4461060	77807397	37362481	28	29247											
FOXG1	2290	broad.mit.edu	37	chr14	29237034	29237034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtacgagaagccgccGttcagctacaacgcgctcat	11	13	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:29237034G>A	ENST00000313071.4	+	1	748	c.549G>A	c.(547-549)ccG>ccA	p.P183P	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Silent_p.P183P|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	183				P -> PP (in Ref. 1; CAA52241). {ECO:0000305}.	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)		AGAAGCCGCCGTTCAGCTACA	0.637																																						ENST00000382535.3																			0				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						c.(547-549)ccG>ccA		forkhead box G1							37	39	38					14																	29237034		2203	4300	6503	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237034G>A		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.549G>A	14.37:g.29237034G>A						FOXG1_ENST00000313071.4_Silent_p.P183P	p.P183P			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	918	+			183	P -> PP (in Ref. 1; CAA52241).				A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.549G>A	CCDS9636.1																																																																																				0.637	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			8	16	0	0	0	1	0	8	16					A	29237034	G	A	29237034	2	1	265	1	0	0	0	0	0	0	0	1	6007	1132	40	1		1	FOXG1	14	29237034	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29237034	78112506	29	29248											
KLHL28	54813	broad.mit.edu	37	chr14	45415078	45415078	+	Frame_Shift_Del	DEL	A	A	-													aagccctgcagaagttgttcAgaatgcaagtgggttaagtt							TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:45415078delA	ENST00000396128.4	-	2	173	c.54delT	c.(52-54)tctfs	p.S18fs	KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	18										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGTTGTTCAGAATGCAAGT	0.403																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(52-54)tcfs		kelch-like family member 28							95	86	89					14																	45415078		2203	4300	6503	SO:0001589	frameshift_variant	54813							g.chr14:45415078delA	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.54delT	14.37:g.45415078delA	ENSP00000379434:p.Ser18fs					KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	p.S18fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			2	173	-			18					Q0VAL5	Frame_Shift_Del	DEL	ENST00000396128.4	37	c.54delT	CCDS9680.1																																																																																				0.403	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			21	60						21	60	---	---	---	---	-	45415078	A	-	45415078	7	5	265	1	0	1	0	1	0	0	0	0	8382	175	7	0	1677	0	KLHL28	14	45415078	Frame_Shift_Del	DEL	A	TCGA-HT-7684-01A-11D-2253-08	16178044	45415078	61934462	30	29249											
SYNE2	23224	broad.mit.edu	37	chr14	64676802	64676802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaccagcgctgggacaAccttcagaggcgggtcacag	15	12	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:64676802A>G	ENST00000344113.4	+	103	18895	c.18683A>G	c.(18682-18684)aAc>aGc	p.N6228S	SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000357395.3_Missense_Mutation_p.N2613S|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6228					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)		CGCTGGGACAACCTTCAGAGG	0.622																																						ENST00000357395.3																			0				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						c.(7837-7839)aAc>aGc		spectrin repeat containing, nuclear envelope 2							40	38	38					14																	64676802		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676802A>G	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.18683A>G	14.37:g.64676802A>G	ENSP00000341781:p.Asn6228Ser					SYNE2_ENST00000344113.4_Missense_Mutation_p.N6228S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S	p.N2613S			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	104	18982	+			6228					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.7838A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178871	0.38511	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;1.37;0.8;0.8;0.8;1.37	5.51	-1.2	0.09554	.	0.385458	0.21256	N	0.077553	T	0.30727	0.0774	L	0.31294	0.92	0.80722	D	1	B;B;B;B;B	0.20052	0.004;0.006;0.041;0.032;0.008	B;B;B;B;B	0.29440	0.021;0.023;0.011;0.102;0.009	T	0.03453	-1.1035	10	0.42905	T	0.14	.	5.23	0.15416	0.4533:0.266:0.2807:0.0	.	2613;616;6187;6228;6228	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	S	6228;2613;6228;6187;6193;2862;2613;106;11	ENSP00000350719:N6228S;ENSP00000349969:N2613S;ENSP00000341781:N6228S;ENSP00000452570:N6187S;ENSP00000450831:N2862S;ENSP00000378249:N2613S;ENSP00000451009:N106S;ENSP00000450605:N11S	ENSP00000261678:N6193S	N	+	2	0	SYNE2	63746555	0.677000	0.27577	0.985000	0.45067	0.955000	0.61496	0.597000	0.24059	-0.205000	0.10219	0.496000	0.49642	AAC		0.622	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	15	0	0	0	1	0	7	15					G	64676802	A	G	64676802	3	3	265	1	0	0	0	0	1	0	0	0	15443	43	2	3	19089	3	SYNE2	14	64676802	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	19261724	64676802	42672738	31	29250											
ISM2	145501	broad.mit.edu	37	chr14	77942239	77942239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacgcaggcagaagcgcGccgtgggctggtagatgtcc	17	10	0	2	rs369577194		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:77942239G>A	ENST00000342219.4	-	7	1471	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	ISM2_ENST00000412904.1_Missense_Mutation_p.A391V|ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000393684.3_Missense_Mutation_p.A384V|ISM2_ENST00000493585.1_3'UTR	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	472	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCAGAAGCGCGCCGTGGGCTG	0.677																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1150-1152)gCg>gTg		isthmin 2		G	,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	30	33	32		,1415	4.8	1	14		32	0,8598		0,0,4299	no	utr-3,missense	ISM2	NM_182509.3,NM_199296.2	,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,472/572	77942239	1,13003	2203	4299	6502	SO:0001583	missense	145501					extracellular region		g.chr14:77942239G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"thrombospondin and AMOP containing isthmin-like 1"	612684	"thrombospondin, type I domain-containing 3", "thrombospondin, type I, domain containing 3", "isthmin 2 homolog (zebrafish)"	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1415C>T	14.37:g.77942239G>A	ENSP00000341490:p.Ala472Val					ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000412904.1_Missense_Mutation_p.A391V|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.A472V	p.A384V			Q6H9L7	ISM2_HUMAN			8	1542	-			472					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1151C>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119699	0.77323	2.27E-4	0.0	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.42513	0.97;1.04;1.04;1.36	4.85	4.85	0.62838	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76291	-0.3013	10	0.87932	D	0	-4.9475	17.9717	0.89115	0.0:0.0:1.0:0.0	.	391;472	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	V	472;391;391;384	ENSP00000341490:A472V;ENSP00000416773:A391V;ENSP00000395387:A391V;ENSP00000377289:A384V	ENSP00000341490:A472V	A	-	2	0	ISM2	77011992	1.000000	0.71417	0.987000	0.45799	0.175000	0.22909	9.477000	0.97925	2.247000	0.74100	0.462000	0.41574	GCG		0.677	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		7	22	0	0	0	1	0	7	22					A	77942239	G	A	77942239	3	1	265	1	0	0	0	0	1	0	0	0	7861	1087	38	1	304	1	ISM2	14	77942239	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13265437	77942239	29407301	32	29251											
AKAP13	11214	broad.mit.edu	37	chr15	86287025	86287025	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaagaaggagaaaaaaaaGaagaacaaaaccagccgctc	9	7	0	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:86287025G>A	ENST00000394518.2	+	36	8456	c.8361G>A	c.(8359-8361)aaG>aaA	p.K2787K	AKAP13_ENST00000394510.2_Silent_p.K1032K|AKAP13_ENST00000361243.2_Silent_p.K2791K|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2787	Interaction with ESR1.|Poly-Lys.				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						AGAAAAAAAAGAAGAACAAAA	0.532																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(8359-8361)aaG>aaA		A kinase (PRKA) anchor protein 13							36	40	39					15																	86287025		2199	4288	6487	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287025G>A	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.8361G>A	15.37:g.86287025G>A						AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2791K|AKAP13_ENST00000394510.2_Silent_p.K1032K	p.K2787K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8456	+			2787			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.8361G>A	CCDS32319.1																																																																																				0.532	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	27	0	0	0	1	0	5	27					A	86287025	G	A	86287025	2	1	265	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86287025	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		86287025	16244367	33	29252											
IQGAP1	8826	broad.mit.edu	37	chr15	91034589	91034589	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacatcagagagccatgCagagacgtgctatccgtgat	11	10	1	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:91034589C>T	ENST00000268182.5	+	34	4397	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1425	C2.				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)			GAGAGCCATGCAGAGACGTGC	0.398																																						ENST00000268182.5																			0				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						c.(4273-4275)Cag>Tag		IQ motif containing GTPase activating protein 1							92	86	88					15																	91034589		2198	4298	6496	SO:0001587	stop_gained	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91034589C>T	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.4273C>T	15.37:g.91034589C>T	ENSP00000268182:p.Gln1425*					IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	p.Q1425*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		34	4397	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1425			C2.		A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	c.4273C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	40	8.048917	0.98627	.	.	ENSG00000140575	ENST00000268182	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-24.5881	19.6516	0.95815	0.0:1.0:0.0:0.0	.	.	.	.	X	1425	.	ENSP00000268182:Q1425X	Q	+	1	0	IQGAP1	88835593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.755000	0.85180	2.894000	0.99253	0.655000	0.94253	CAG		0.398	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		4	23	0	0	0	1	0	4	23					T	91034589	C	T	91034589	4	4	265	1	0	0	0	0	0	1	0	0	7814	711	25	2	4407	2	IQGAP1	15	91034589	Nonsense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	4747564	91034589	11496803	34	29253											
EFTUD2	9343	broad.mit.edu	37	chr17	42931994	42931994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaaagcccagatggaaCgggcagccagcagatcccaa	12	13	0	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:42931994C>T	ENST00000426333.2	-	22	2486	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	730					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGATGGAACGGGCAGCCAG	0.567																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2188-2190)cGt>cAt		elongation factor Tu GTP binding domain containing 2							89	85	86					17																	42931994		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42931994C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2189G>A	17.37:g.42931994C>T	ENSP00000392094:p.Arg730His					EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H	p.R730H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			22	2486	-		Prostate(33;0.109)	730					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2189G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	36	5.754173	0.96890	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.30981	1.51;1.51	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	H	0.96111	3.77	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.54238	0.746;0.746	T	0.77550	-0.2546	10	0.87932	D	0	-15.8139	18.8054	0.92035	0.0:1.0:0.0:0.0	.	720;730	B4DMC0;Q15029	.;U5S1_HUMAN	H	730;720;695	ENSP00000392094:R730H;ENSP00000385873:R695H	ENSP00000262414:R720H	R	-	2	0	EFTUD2	40287520	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	CGT		0.567	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		17	29	0	0	0	1	0	17	29					T	42931994	C	T	42931994	3	4	265	1	0	0	0	0	1	0	0	0	4961	536	19	1	757	1	EFTUD2	17	42931994	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		42931994	38263216	35	29254											
USP32	84669	broad.mit.edu	37	chr17	58378974	58378975	+	Frame_Shift_Del	DEL	TC	TC	-													acttacattttgctttctctTcatctttgcctcttgtaagg							TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:58378974_58378975delTC	ENST00000300896.4	-	3	471_472	c.277_278delGA	c.(277-279)gaafs	p.E94fs	USP32_ENST00000586881.1_5'UTR|USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	94	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			TGCTTTCTCTTCATCTTTGCCT	0.332																																						ENST00000300896.4																			0				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						c.(277-279)afs		ubiquitin specific peptidase 32																																				SO:0001589	frameshift_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58378974_58378975delTC	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.277_278delGA	17.37:g.58378974_58378975delTC	ENSP00000300896:p.Glu94fs					USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs|USP32_ENST00000586881.1_5'UTR	p.E94fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		3	471_472	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		94			EF-hand 1.		Q7Z5T3|Q9BX85|Q9Y591	Frame_Shift_Del	DEL	ENST00000300896.4	37	c.277_278delGA	CCDS32697.1																																																																																				0.332	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		8	22						8	22	---	---	---	---	-	58378975	TC	-	58378974	7	5	265	1	0	1	0	1	0	0	0	0	17060	1783	62	0	4664	0	USP32	17	58378974	Frame_Shift_Del	DEL	TC	TCGA-HT-7684-01A-11D-2253-08	15446980	58378974	22816236	36	29255											
TTYH2	94015	broad.mit.edu	37	chr17	72249349	72249349	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagtggcctgggaagtcaGaccagcctgcagcccccggc	14	15	1	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:72249349G>A	ENST00000269346.4	+	12	1463	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	TTYH2_ENST00000529107.1_Silent_p.Q442Q|TTYH2_ENST00000441391.2_Silent_p.Q142Q	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	463						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGGAAGTCAGACCAGCCTGC	0.647																																						ENST00000441391.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(424-426)caG>caA		tweety family member 2							66	68	68					17																	72249349		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249349G>A		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1389G>A	17.37:g.72249349G>A						TTYH2_ENST00000529107.1_Silent_p.Q442Q|TTYH2_ENST00000269346.4_Silent_p.Q463Q	p.Q142Q	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN			6	1638	+			463					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.426G>A	CCDS32717.1																																																																																				0.647	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			15	54	0	0	0	1	0	15	54					A	72249349	G	A	72249349	2	1	265	1	0	0	0	0	0	0	0	1	16737	933	33	2		2	TTYH2	17	72249349	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13870375	72249349	8945861	37	29256											
EVPL	2125	broad.mit.edu	37	chr17	74003681	74003681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacggctgagcaggtccaCgatgccccctgtggccgcct	12	17	1	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:74003681C>T	ENST00000301607.3	-	22	5858	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1869	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCAGGTCCACGATGCCCCCT	0.617																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5605-5607)Gtg>Atg		envoplakin							86	86	86					17																	74003681		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003681C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5605G>A	17.37:g.74003681C>T	ENSP00000301607:p.Val1869Met					EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M	p.V1869M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5858	-			1869			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5605G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921732	0.52653	.	.	ENSG00000167880	ENST00000301607	T	0.76839	-1.05	5.48	4.51	0.55191	.	0.144301	0.47093	D	0.000252	D	0.85405	0.5689	M	0.75615	2.305	0.33755	D	0.621087	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.971	D	0.89225	0.3573	10	0.72032	D	0.01	-27.1809	8.7764	0.34765	0.0:0.7601:0.0:0.2399	.	1891;1869	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1869	ENSP00000301607:V1869M	ENSP00000301607:V1869M	V	-	1	0	EVPL	71515276	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	0.941000	0.29005	1.305000	0.44909	0.561000	0.74099	GTG		0.617	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	45	0	0	0	1	0	4	45					T	74003681	C	T	74003681	3	4	265	1	0	0	0	0	1	0	0	0	5292	536	19	1	500	1	EVPL	17	74003681	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	1754332	74003681	7191529	38	29257											
C3	718	broad.mit.edu	37	chr19	6712560	6712560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgaagtacttgggtgTcttggtgaagtggatctggt	16	3	2	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:6712560T>C	ENST00000245907.6	-	10	1170	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	360					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)	TACTTGGGTGTCTTGGTGAAG	0.622																																						ENST00000245907.6																			0				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						c.(1078-1080)Aca>Gca		complement component 3							258	230	239					19																	6712560		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6712560T>C	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.1078A>G	19.37:g.6712560T>C	ENSP00000245907:p.Thr360Ala						p.T360A	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	10	1170	-			360					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1078A>G	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.982016	0.53827	.	.	ENSG00000125730	ENST00000245907	T	0.38722	1.12	5.13	5.13	0.70059	.	0.046505	0.85682	D	0.000000	T	0.55893	0.1949	M	0.90814	3.15	0.37248	D	0.906442	P	0.47545	0.897	P	0.47941	0.562	T	0.68157	-0.5483	10	0.48119	T	0.1	.	9.3602	0.38190	0.1598:0.0:0.0:0.8402	.	360	P01024	CO3_HUMAN	A	360	ENSP00000245907:T360A	ENSP00000245907:T360A	T	-	1	0	C3	6663560	1.000000	0.71417	0.994000	0.49952	0.796000	0.44982	4.390000	0.59646	1.937000	0.56155	0.459000	0.35465	ACA		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		13	171	0	0	0	1	0	13	171					C	6712560	T	C	6712560	3	2	265	1	0	0	0	0	1	0	0	0	2204	1667	58	3	4041	3	C3	19	6712560	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		6712560	52416423	39	29258											
LYPD4	147719	broad.mit.edu	37	chr19	42341280	42341280	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcttgcctggaggaTgctgcaccaacaatctgaga	12	10	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:42341280T>G	ENST00000330743.3	-	5	1889	c.678A>C	c.(676-678)gcA>gcC	p.A226A	LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	226						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCCTGGAGGATGCTGCACCAA	0.493																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(676-678)gcA>gcC		LY6/PLAUR domain containing 4							148	135	140					19																	42341280		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42341280T>G	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.678A>C	19.37:g.42341280T>G						LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A	p.A226A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			5	1889	-			226					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.678A>C	CCDS12587.1																																																																																				0.493	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		3	60	0	0	0	1	0	3	60					G	42341280	T	G	42341280	2	3	265	1	0	0	0	0	0	0	0	1	9112	1451	51	5		5	LYPD4	19	42341280	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	35628720	42341280	16787703	40	29259											
DLGAP4	22839	broad.mit.edu	37	chr20	35060961	35060961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccacctgccccagccttGgggtgggcactgacaccaac	11	17	0	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:35060961G>T	ENST00000373907.2	+	2	1040	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	DLGAP4_ENST00000373913.3_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	281					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCAGCCTTGGGGTGGGCAC	0.632																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(841-843)Ggg>Tgg		discs, large (Drosophila) homolog-associated protein 4							12	14	13					20																	35060961		2177	4269	6446	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060961G>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.841G>T	20.37:g.35060961G>T	ENSP00000363014:p.Gly281Trp					DLGAP4_ENST00000373907.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W	p.G281W			Q9Y2H0	DLGP4_HUMAN			3	1321	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	281					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	G	16.29	3.082324	0.55861	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.12	4.12	0.48240	.	0.643152	0.16717	N	0.202402	T	0.28134	0.0694	L	0.46157	1.445	0.30479	N	0.772583	D	0.63880	0.993	P	0.61275	0.886	T	0.06058	-1.0848	10	0.87932	D	0	.	8.0094	0.30344	0.1072:0.0:0.8928:0.0	.	281	Q9Y2H0-1	.	W	281	ENSP00000363023:G281W;ENSP00000384954:G281W;ENSP00000363014:G281W;ENSP00000341633:G281W	ENSP00000341633:G281W	G	+	1	0	DLGAP4	34494375	0.976000	0.34144	1.000000	0.80357	0.981000	0.71138	1.319000	0.33655	2.595000	0.87683	0.561000	0.74099	GGG		0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		11	7	1	0	0.00010058	1	0.000102514	11	7					T	35060961	G	T	35060961	3	4	265	1	0	0	0	0	1	0	0	0	4562	1348	47	4	843	4	DLGAP4	20	35060961	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		35060961	27964559	41	29260											
HCCS	3052	broad.mit.edu	37	chrX	11135492	11135492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcagagaaaaagtgggttTacccttctgagcagatgttc	10	7	2	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:11135492T>C	ENST00000321143.4	+	4	560	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H|Y_RNA_ENST00000384422.1_RNA|HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	120					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						AAAGTGGGTTTACCCTTCTGA	0.383																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(358-360)Tac>Cac		holocytochrome c synthase							145	140	142					X																	11135492		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11135492T>C		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.358T>C	X.37:g.11135492T>C	ENSP00000326579:p.Tyr120His					HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H|HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H	p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			4	560	+			120					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.358T>C	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308182	0.81247	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.92805	-3.11;-3.11;-3.11	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97328	0.9126	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98231	1.0483	10	0.87932	D	0	-9.3396	12.7073	0.57067	0.0:0.0:0.0:1.0	.	120	P53701	CCHL_HUMAN	H	120	ENSP00000326579:Y120H;ENSP00000370140:Y120H;ENSP00000370139:Y120H	ENSP00000326579:Y120H	Y	+	1	0	HCCS	11045413	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	7.511000	0.81718	1.908000	0.55244	0.486000	0.48141	TAC		0.383	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			37	21	0	0	0	1	0	37	21					C	11135492	T	C	11135492	3	2	265	1	0	0	0	0	1	0	0	0	6990	1754	61	3	368	3	HCCS	23	11135492	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		11135492	144135068	42	29261											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			2	4						2	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	265	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-HT-7684-01A-11D-2253-08	40103804	51239296	104031264	43	29262											
PRDM16	63976	broad.mit.edu	37	chr1	3342279	3342279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagaccaacctggaccGgcacctcaagaagcacgagc	11	15	1	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr1:3342279G>A	ENST00000270722.5	+	13	3123	c.3074G>A	c.(3073-3075)cGg>cAg	p.R1025Q	PRDM16_ENST00000378391.2_Missense_Mutation_p.R1025Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R1026Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.R1025Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1025Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1025	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AACCTGGACCGGCACCTCAAG	0.662			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(3073-3075)cGg>cAg		PR domain containing 16							71	81	78					1																	3342279		2122	4228	6350	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342279G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3074G>A	1.37:g.3342279G>A	ENSP00000270722:p.Arg1025Gln					PRDM16_ENST00000511072.1_Missense_Mutation_p.R1026Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R1025Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.R1025Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1025Q	p.R1025Q			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	14	3156	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1025			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.3074G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970540	0.92919	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	U	0.000246	T	0.45438	0.1342	M	0.85197	2.74	0.58432	D	0.999998	D;D;P;D	0.89917	0.995;1.0;0.948;1.0	P;D;P;D	0.72075	0.485;0.976;0.536;0.946	T	0.52852	-0.8520	10	0.42905	T	0.14	.	16.1142	0.81289	0.0:0.0:1.0:0.0	.	1025;1025;1024;1024	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	1026;1025;1024;1024;1025;1025;1025;841;841;833	ENSP00000426975:R1026Q;ENSP00000367651:R1025Q;ENSP00000407968:R1024Q;ENSP00000405253:R1024Q;ENSP00000367643:R1025Q;ENSP00000421400:R1025Q;ENSP00000270722:R1025Q;ENSP00000422504:R841Q;ENSP00000425796:R833Q	ENSP00000270722:R1025Q	R	+	2	0	PRDM16	3332139	1.000000	0.71417	0.406000	0.26421	0.965000	0.64279	9.664000	0.98607	1.781000	0.52344	0.462000	0.41574	CGG		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		13	121	0	0	0	1	0	13	121					A	3342279	G	A	3342279	3	1	266	1	0	0	0	0	1	0	0	0	12457	1116	39	1	3124	1	PRDM16	1	3342279	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		3342279	245908342	1	29263											
TUBA3D	113457	broad.mit.edu	37	chr2	132238149	132238149	+	Frame_Shift_Del	DEL	T	T	-													tggccgagatcaccaatgccTgcttcgagccagccaatcaa							TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:132238149delT	ENST00000321253.6	+	4	990	c.883delT	c.(883-885)tgcfs	p.C295fs		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	295					'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)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACCAATGCCTGCTTCGAGCC	0.597																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(883-885)gcfs		tubulin, alpha 3d							92	126	115					2																	132238149		2202	4300	6502	SO:0001589	frameshift_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238149delT	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.883delT	2.37:g.132238149delT	ENSP00000326042:p.Cys295fs						p.C295fs	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	990	+			295					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Frame_Shift_Del	DEL	ENST00000321253.6	37	c.883delT	CCDS33290.1																																																																																				0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		10	285						10	285	---	---	---	---	-	132238149	T	-	132238149	7	5	266	1	0	1	0	1	0	0	0	0	16744	1580	55	0	897	0	TUBA3D	2	132238149	Frame_Shift_Del	DEL	T	TCGA-HT-7686-01A-11D-2253-08		132238149	110961224	2	29264											
COBLL1	22837	broad.mit.edu	37	chr2	165550871	165550871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaggttggaccaatgCactggcactaggtgactcgg	16	9	0	1	rs189417090		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:165550871C>A	ENST00000392717.2	-	13	3263	c.3259G>T	c.(3259-3261)Gca>Tca	p.A1087S	COBLL1_ENST00000409184.3_Missense_Mutation_p.A1049S|COBLL1_ENST00000194871.6_Missense_Mutation_p.A1116S|COBLL1_ENST00000342193.4_Missense_Mutation_p.A1049S|COBLL1_ENST00000375458.2_Missense_Mutation_p.A1011S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1087						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						TGGACCAATGCACTGGCACTA	0.473																																						ENST00000375458.2																			0				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						c.(3031-3033)Gca>Tca		cordon-bleu WH2 repeat protein-like 1							116	106	109					2																	165550871		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165550871C>A	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.3259G>T	2.37:g.165550871C>A	ENSP00000376478:p.Ala1087Ser					COBLL1_ENST00000342193.4_Missense_Mutation_p.A1049S|COBLL1_ENST00000194871.6_Missense_Mutation_p.A1116S|COBLL1_ENST00000409184.3_Missense_Mutation_p.A1049S|COBLL1_ENST00000392717.2_Missense_Mutation_p.A1087S	p.A1011S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	3252	-			1087					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.3031G>T		.	.	.	.	.	.	.	.	.	.	C	8.555	0.876405	0.17395	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.71	-0.228	0.13098	.	0.770143	0.11985	N	0.510409	T	0.15739	0.0379	N	0.13043	0.29	0.09310	N	1	B;B;B	0.22211	0.04;0.04;0.066	B;B;B	0.23150	0.022;0.022;0.044	T	0.26573	-1.0099	9	0.15952	T	0.53	0.0318	2.3611	0.04307	0.1183:0.3938:0.124:0.3638	.	1087;1116;1049	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	1011;1049;1049;1087;1116	.	ENSP00000194871:A1116S	A	-	1	0	COBLL1	165259117	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.632000	0.24583	0.034000	0.15491	0.655000	0.94253	GCA		0.473	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		4	52	1	0	0.00909568	1	0.00930721	4	52					A	165550871	C	A	165550871	3	1	266	1	0	0	0	0	1	0	0	0	3654	710	25	4	367	4	COBLL1	2	165550871	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	33312722	165550871	77648502	3	29265											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	48	0	0	0	1	0	29	48					T	209113112	C	T	209113112	3	4	266	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	43562241	209113112	34086261	4	29266											
PLCH1	23007	broad.mit.edu	37	chr3	155200712	155200712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtgggcagtagatacaaTggtgtccccttggctggtat	13	8	0	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr3:155200712T>C	ENST00000340059.7	-	23	3126	c.3127A>G	c.(3127-3129)Att>Gtt	p.I1043V	PLCH1_ENST00000460012.1_Missense_Mutation_p.I1005V|PLCH1_ENST00000414191.1_Missense_Mutation_p.I1005V|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1005V|PLCH1_ENST00000494598.1_Intron|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1043					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)			GTAGATACAATGGTGTCCCCT	0.458																																						ENST00000460012.1																			0				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						c.(3013-3015)Att>Gtt		phospholipase C, eta 1							162	157	159					3																	155200712		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200712T>C	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.3127A>G	3.37:g.155200712T>C	ENSP00000345988:p.Ile1043Val					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.I1043V|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1005V|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.I1005V	p.I1005V			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3370	-			1043					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3013A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	0.082	-1.182040	0.01633	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.97	-8.05	0.01106	.	2.504400	0.01205	N	0.007680	T	0.06508	0.0167	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.22706	T	0.39	.	3.5801	0.07949	0.1111:0.4562:0.2227:0.21	.	1005;1043	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	V	1005;1043;1005;1005	ENSP00000417502:I1005V;ENSP00000345988:I1043V;ENSP00000335469:I1005V;ENSP00000412977:I1005V	ENSP00000335469:I1005V	I	-	1	0	PLCH1	156683406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.839000	0.01686	-1.504000	0.01810	-1.139000	0.01908	ATT		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		31	57	0	0	0	1	0	31	57					C	155200712	T	C	155200712	3	2	266	1	0	0	0	0	1	0	0	0	12037	1464	51	3	1958	3	PLCH1	3	155200712	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		155200712	42821718	5	29267											
ANXA10	11199	broad.mit.edu	37	chr4	169105805	169105805	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacgatacaaagagcgataTggaaaatccctatttcatga	7	7	1	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr4:169105805T>C	ENST00000359299.3	+	11	1065	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	293						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAGCGATATGGAAAATCCC	0.353																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(877-879)taT>taC		annexin A10							159	167	164					4																	169105805		2203	4300	6503	SO:0001819	synonymous_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169105805T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.879T>C	4.37:g.169105805T>C							p.Y293Y	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	11	1065	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	293					Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	c.879T>C	CCDS34096.1																																																																																				0.353	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		52	78	0	0	0	1	0	52	78					C	169105805	T	C	169105805	2	2	266	1	0	0	0	0	0	0	0	1	715	1471	51	3		3	ANXA10	4	169105805	Silent	SNP	T	TCGA-HT-7686-01A-11D-2253-08		169105805	22048471	6	29268											
PRDM9	56979	broad.mit.edu	37	chr5	23526872	23526872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgcagggagtgtgggCggggctttagctggaagtca	18	7	2	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:23526872C>T	ENST00000296682.3	+	11	1857	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	559					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)	p.R559R(1)		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						GGAGTGTGGGCGGGGCTTTAG	0.527										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.R559R(1)	lung(1)	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						c.(1675-1677)Cgg>Tgg		PR domain containing 9							78	85	83					5																	23526872		2180	4294	6474	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526872C>T	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.1675C>T	5.37:g.23526872C>T	ENSP00000296682:p.Arg559Trp	HNSCC(3;0.000094)					p.R559W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1857	+			559					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1675C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759569	0.31137	.	.	ENSG00000164256	ENST00000296682	T	0.08008	3.14	2.47	0.517	0.17025	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10981	0.0268	M	0.81614	2.55	0.27013	N	0.964633	P	0.34662	0.462	B	0.33750	0.169	T	0.21827	-1.0234	9	0.87932	D	0	-0.1566	3.3188	0.07043	0.4483:0.4094:0.0:0.1423	.	559	Q9NQV7	PRDM9_HUMAN	W	559	ENSP00000296682:R559W	ENSP00000296682:R559W	R	+	1	2	PRDM9	23562629	0.000000	0.05858	0.865000	0.33974	0.273000	0.26683	-0.332000	0.07904	0.095000	0.17434	0.400000	0.26472	CGG		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		28	72	0	0	0	1	0	28	72					T	23526872	C	T	23526872	3	4	266	1	0	0	0	0	1	0	0	0	12463	759	27	1	1713	1	PRDM9	5	23526872	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08		23526872	157388388	7	29269											
HCN1	348980	broad.mit.edu	37	chr5	45262356	45262356	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagtggcctgacttcccgGgtcaggttggtgttgtgaag	17	7	1	3			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:45262356G>T	ENST00000303230.4	-	8	2397	c.2340C>A	c.(2338-2340)acC>acA	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2338-2340)acC>acA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							73	70	71					5																	45262356		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262356G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2340C>A	5.37:g.45262356G>T							p.T780T	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2397	-			780						Silent	SNP	ENST00000303230.4	37	c.2340C>A	CCDS3952.1																																																																																				0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	32	1	0	4.35082e-09	1	4.90861e-09	19	32					T	45262356	G	T	45262356	2	4	266	1	0	0	0	0	0	0	0	1	6996	1219	43	4		4	HCN1	5	45262356	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	21735484	45262356	135652904	8	29270											
DHX29	54505	broad.mit.edu	37	chr5	54577281	54577281	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaacccctgttgtacaataGagtaacctggtagattcaca	7	9	1	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:54577281G>C	ENST00000251636.5	-	12	2176	c.2028C>G	c.(2026-2028)ctC>ctG	p.L676L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGTACAATAGAGTAACCTGG	0.393																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2026-2028)ctC>ctG		DEAH (Asp-Glu-Ala-His) box polypeptide 29							106	97	100					5																	54577281		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54577281G>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2028C>G	5.37:g.54577281G>C						RP11-506H20.1_ENST00000506435.1_RNA	p.L676L	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			12	2176	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	676			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.2028C>G	CCDS34158.1																																																																																				0.393	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		35	54	0	0	0	1	0	35	54					C	54577281	G	C	54577281	2	2	266	1	0	0	0	0	0	0	0	1	4503	929	33	4		4	DHX29	5	54577281	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	9314925	54577281	126337979	9	29271											
UNC5CL	222643	broad.mit.edu	37	chr6	40996311	40996311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccaggatggccgctgcgGggctgcgctggcaggacagg	18	12	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:40996311G>T	ENST00000373164.1	-	8	1418	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.P453H			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	453	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCGCTGCGGGGCTGCGCTG	0.672																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1357-1359)cCc>cAc		unc-5 homolog C (C. elegans)-like							41	42	42					6																	40996311		2193	4275	6468	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996311G>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1358C>A	6.37:g.40996311G>T	ENSP00000362258:p.Pro453His					UNC5CL_ENST00000373164.1_Missense_Mutation_p.P453H|UNC5CL_ENST00000470102.1_5'UTR	p.P453H	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1446	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		453			Death.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1358C>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874456	0.72180	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.55052	0.54;0.54	4.53	4.53	0.55603	Death (3);DEATH-like (2);	0.000000	0.42294	D	0.000737	T	0.59280	0.2182	L	0.55213	1.73	0.47153	D	0.999339	D	0.89917	1.0	D	0.83275	0.996	T	0.64630	-0.6362	10	0.87932	D	0	-27.5248	12.7675	0.57401	0.0:0.0:1.0:0.0	.	453	Q8IV45	UN5CL_HUMAN	H	453	ENSP00000244565:P453H;ENSP00000362258:P453H	ENSP00000244565:P453H	P	-	2	0	UNC5CL	41104289	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	5.418000	0.66429	2.069000	0.61940	0.563000	0.77884	CCC		0.672	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		27	58	1	0	3.67414e-24	1	4.36925e-24	27	58					T	40996311	G	T	40996311	3	4	266	1	0	0	0	0	1	0	0	0	16991	1232	43	4	202	4	UNC5CL	6	40996311	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		40996311	130118756	10	29272											
LAMA2	3908	broad.mit.edu	37	chr6	129468139	129468139	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaggatatttcagttggaggGatgtgcatctgctatggtca	13	5	3	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:129468139G>T	ENST00000421865.2	+	6	904	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	285	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.G285G(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)		CAGTTGGAGGGATGTGCATCT	0.433																																						ENST00000421865.2																			1	Substitution - coding silent(1)	p.G285G(1)	lung(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						c.(853-855)ggG>ggT		laminin, alpha 2							236	217	223					6																	129468139		2203	4299	6502	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129468139G>T	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.855G>T	6.37:g.129468139G>T							p.G285G	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	6	904	+			285			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.855G>T	CCDS5138.1																																																																																				0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	170	1	0	7.48243e-07	1	8.02992e-07	7	170					T	129468139	G	T	129468139	2	4	266	1	0	0	0	0	0	0	0	1	8606	1161	41	4		4	LAMA2	6	129468139	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	88471828	129468139	41646928	11	29273											
ADAM28	10863	broad.mit.edu	37	chr8	24201057	24201057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcaatgtgaggaaggAtggatccctcccgactgcga	13	10	1	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:24201057A>G	ENST00000265769.4	+	18	2060	c.1950A>G	c.(1948-1950)ggA>ggG	p.G650G	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G397G|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	650	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGAGGAAGGATGGATCCCTC	0.498																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1948-1950)ggA>ggG		ADAM metallopeptidase domain 28							190	147	161					8																	24201057		2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24201057A>G	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1950A>G	8.37:g.24201057A>G						ADAM28_ENST00000397649.3_Silent_p.G397G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.G650G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	18	2060	+		Prostate(55;0.0959)	650			EGF-like.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1950A>G	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	8.047	0.765161	0.15914	.	.	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.52	1.8	0.24995	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36114	-0.9761	4	.	.	.	.	4.9045	0.13791	0.4841:0.3404:0.1755:0.0	.	.	.	.	V	283;76	.	.	M	+	1	0	ADAM28	24257002	0.772000	0.28567	1.000000	0.80357	0.625000	0.37756	-0.243000	0.08915	0.124000	0.18369	0.533000	0.62120	ATG		0.498	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		23	47	0	0	0	1	0	23	47					G	24201057	A	G	24201057	2	3	266	1	0	0	0	0	0	0	0	1	246	320	12	3		3	ADAM28	8	24201057	Silent	SNP	A	TCGA-HT-7686-01A-11D-2253-08		24201057	122162965	12	29274											
PKHD1L1	93035	broad.mit.edu	37	chr8	110408325	110408325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaataagtgggcgttTctttgatcagacagatttcc	10	8	2	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:110408325T>C	ENST00000378402.5	+	11	985	c.881T>C	c.(880-882)tTc>tCc	p.F294S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	294	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)			AGTGGGCGTTTCTTTGATCAG	0.403										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(880-882)tTc>tCc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							75	67	70					8																	110408325		1993	4188	6181	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110408325T>C	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.881T>C	8.37:g.110408325T>C	ENSP00000367655:p.Phe294Ser	HNSCC(38;0.096)					p.F294S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	985	+			294			IPT/TIG 3.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.881T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110752	0.20714	.	.	ENSG00000205038	ENST00000378402	T	0.75477	-0.94	5.81	5.81	0.92471	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.130830	0.51477	D	0.000093	T	0.67869	0.2939	L	0.56396	1.775	0.29445	N	0.858904	P	0.36086	0.536	B	0.37550	0.253	T	0.63260	-0.6677	10	0.16420	T	0.52	.	9.4245	0.38572	0.1584:0.0:0.0:0.8416	.	294	Q86WI1	PKHL1_HUMAN	S	294	ENSP00000367655:F294S	ENSP00000367655:F294S	F	+	2	0	PKHD1L1	110477501	1.000000	0.71417	0.994000	0.49952	0.400000	0.30750	2.154000	0.42291	2.225000	0.72522	0.533000	0.62120	TTC		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	13	0	0	0	1	0	9	13					C	110408325	T	C	110408325	3	2	266	1	0	0	0	0	1	0	0	0	11972	1783	62	3	923	3	PKHD1L1	8	110408325	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08	86207268	110408325	35955697	13	29275											
EPPK1	83481	broad.mit.edu	37	chr8	144941387	144941387	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgatgacaccccccgtgGccacctgcacctccagcagc	10	19	0	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:144941387G>T	ENST00000525985.1	-	2	6106	c.6035C>A	c.(6034-6036)gCc>gAc	p.A2012D				P58107	EPIPL_HUMAN	epiplakin 1	2012						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)			ACCCCCCGTGGCCACCTGCAC	0.627																																						ENST00000525985.1																			0				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						c.(6034-6036)gCc>gAc		epiplakin 1							40	45	43					8																	144941387		2148	4254	6402	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941387G>T	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.6035C>A	8.37:g.144941387G>T	ENSP00000436337:p.Ala2012Asp						p.A2012D			P58107	EPIPL_HUMAN	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)		2	6106	-	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)		2012					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6035C>A		.	.	.	.	.	.	.	.	.	.	G	18.63	3.664692	0.67700	.	.	ENSG00000227184	ENST00000525985	T	0.79653	-1.29	4.68	4.68	0.58851	.	.	.	.	.	D	0.89104	0.6620	M	0.85197	2.74	0.47737	D	0.999504	D	0.89917	1.0	D	0.85130	0.997	D	0.86872	0.2036	9	0.14252	T	0.57	.	15.1066	0.72326	0.0:0.0:1.0:0.0	.	2012	E9PPU0	.	D	2012	ENSP00000436337:A2012D	ENSP00000436337:A2012D	A	-	2	0	EPPK1	145013375	1.000000	0.71417	0.985000	0.45067	0.067000	0.16453	9.489000	0.97949	2.424000	0.82194	0.585000	0.79938	GCC		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		13	22	1	0	3.27435e-08	1	3.60179e-08	13	22					T	144941387	G	T	144941387	3	4	266	1	0	0	0	0	1	0	0	0	5190	1203	42	4	1231	4	EPPK1	8	144941387	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	34533062	144941387	1422635	14	29276											
UBAP1	51271	broad.mit.edu	37	chr9	34250662	34250662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtttcttttcttagattctcGactatctctttgcacatgga	6	9	4	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr9:34250662G>T	ENST00000297661.4	+	6	1508	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	UBAP1_ENST00000359544.2_Missense_Mutation_p.D425Y|UBAP1_ENST00000536252.1_Missense_Mutation_p.D425Y|UBAP1_ENST00000540348.1_Missense_Mutation_p.D425Y|UBAP1_ENST00000543944.1_Missense_Mutation_p.D461Y|UBAP1_ENST00000545103.1_Missense_Mutation_p.D489Y|UBAP1_ENST00000379186.4_Missense_Mutation_p.D364Y	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	425	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TTAGATTCTCGACTATCTCTT	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1273-1275)Gac>Tac		ubiquitin associated protein 1							137	122	127					9																	34250662		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34250662G>T	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1273G>T	9.37:g.34250662G>T	ENSP00000297661:p.Asp425Tyr					UBAP1_ENST00000545103.1_Missense_Mutation_p.D489Y|UBAP1_ENST00000379186.4_Missense_Mutation_p.D364Y|UBAP1_ENST00000359544.2_Missense_Mutation_p.D425Y|UBAP1_ENST00000297661.4_Missense_Mutation_p.D425Y|UBAP1_ENST00000543944.1_Missense_Mutation_p.D461Y|UBAP1_ENST00000540348.1_Missense_Mutation_p.D425Y	p.D425Y	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		7	1671	+			425			UBA 1.		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1273G>T	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930352	0.92389	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.56611	0.46;0.45;0.52;0.52;0.52;0.94;0.52	6.17	6.17	0.99709	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.048477	0.85682	D	0.000000	T	0.69869	0.3159	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.986;0.997;0.988	T	0.68800	-0.5313	10	0.87932	D	0	-3.6972	20.8794	0.99867	0.0:0.0:1.0:0.0	.	489;461;489;425	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	Y	489;461;425;425;425;364;425	ENSP00000441024:D489Y;ENSP00000439806:D461Y;ENSP00000440456:D425Y;ENSP00000439976:D425Y;ENSP00000297661:D425Y;ENSP00000368484:D364Y;ENSP00000352541:D425Y	ENSP00000297661:D425Y	D	+	1	0	UBAP1	34240662	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.162000	0.94745	2.941000	0.99782	0.655000	0.94253	GAC		0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			19	31	1	0	4.35082e-09	1	4.90861e-09	19	31					T	34250662	G	T	34250662	3	4	266	1	0	0	0	0	1	0	0	0	16833	1058	37	4	1528	4	UBAP1	9	34250662	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		34250662	106962769	15	29277											
NR1H3	10062	broad.mit.edu	37	chr11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccacaaaagcggaaaaAggggccagcccccaaaatgc	10	14	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|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 receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(256-258)aAg>aGg		nuclear receptor subfamily 1, group H, member 3							73	75	75					11																	47281984		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281984A>G	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.257A>G	11.37:g.47281984A>G	ENSP00000420656:p.Lys86Arg					NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR	p.K86R			Q13133	NR1H3_HUMAN			3	1495	+			86					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.257A>G	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924104	0.92319	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853	D;D;D;D;D;D;D;D;D;D;D;D	0.93659	-2.89;-3.2;-3.07;-2.47;-3.26;-2.62;-2.62;-2.47;-2.93;-2.48;-2.93;-3.26	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.784;1.0;0.987;0.966	B;D;D;D	0.91635	0.41;0.999;0.913;0.953	D	0.95401	0.8490	10	0.72032	D	0.01	.	15.4324	0.75112	1.0:0.0:0.0:0.0	.	92;86;41;86	B4DXU5;Q13133;E9PLL4;Q13133-2	.;NR1H3_HUMAN;.;.	R	41;41;41;86;86;86;41;86;86;86;86;86	ENSP00000378793:K41R;ENSP00000385073:K41R;ENSP00000433271:K41R;ENSP00000403798:K86R;ENSP00000385801:K86R;ENSP00000391005:K86R;ENSP00000412636:K41R;ENSP00000415591:K86R;ENSP00000387946:K86R;ENSP00000403696:K86R;ENSP00000420656:K86R;ENSP00000384745:K86R	ENSP00000378793:K41R	K	+	2	0	NR1H3	47238560	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.935000	0.75886	2.098000	0.63641	0.379000	0.24179	AAG		0.567	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			3	49	0	0	0	1	0	3	49					G	47281984	A	G	47281984	3	3	266	1	0	0	0	0	1	0	0	0	10618	72	3	3	267	3	NR1H3	11	47281984	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		47281984	87724532	16	29278											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839036	128839036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgctctggcgcttgccGtgtggttggtactggtacag	14	10	1	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:128839036G>A	ENST00000310343.9	-	22	6029	c.6030C>T	c.(6028-6030)caC>caT	p.H2010H	ARHGAP32_ENST00000527272.1_Silent_p.H1661H|ARHGAP32_ENST00000392657.3_Silent_p.H1661H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2010	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCGCTTGCCGTGTGGTTGGT	0.567																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(6028-6030)caC>caT		Rho GTPase activating protein 32							128	108	115					11																	128839036		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839036G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6030C>T	11.37:g.128839036G>A						ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.H1661H|ARHGAP32_ENST00000527272.1_Silent_p.H1661H	p.H2010H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	6029	-			2010			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.6030C>T	CCDS44769.1																																																																																				0.567	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		3	70	0	0	0	1	0	3	70					A	128839036	G	A	128839036	2	1	266	1	0	0	0	0	0	0	0	1	881	1136	40	1		1	ARHGAP32	11	128839036	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	81557052	128839036	6167480	17	29279											
TAS2R42	353164	broad.mit.edu	37	chr12	11339191	11339191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcagccagaggaaaAgggagtgggggaagtgggct	17	8	1	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr12:11339191A>G	ENST00000334266.1	-	1	352	c.353T>C	c.(352-354)cTt>cCt	p.L118P		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	118					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)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CCAGAGGAAAAGGGAGTGGGG	0.398																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(352-354)cTt>cCt		taste receptor, type 2, member 42							74	72	73					12																	11339191		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339191A>G	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.353T>C	12.37:g.11339191A>G	ENSP00000334050:p.Leu118Pro						p.L118P	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	352	-			118					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.353T>C	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	A	7.511	0.654730	0.14580	.	.	ENSG00000186136	ENST00000334266	T	0.00922	5.54	3.7	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.402230	0.22509	N	0.059139	T	0.03390	0.0098	M	0.80982	2.52	0.23859	N	0.996649	P	0.51933	0.949	P	0.58331	0.837	T	0.22347	-1.0219	10	0.87932	D	0	.	5.7927	0.18369	0.8756:0.0:0.1244:0.0	.	118	Q7RTR8	T2R42_HUMAN	P	118	ENSP00000334050:L118P	ENSP00000334050:L118P	L	-	2	0	TAS2R42	11230458	0.961000	0.32948	0.168000	0.22838	0.003000	0.03518	2.646000	0.46630	0.623000	0.30267	-0.256000	0.11100	CTT		0.398	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		3	48	0	0	0	1	0	3	48					G	11339191	A	G	11339191	3	3	266	1	0	0	0	0	1	0	0	0	15577	72	3	3	595	3	TAS2R42	12	11339191	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		11339191	122512704	18	29280											
AK7	122481	broad.mit.edu	37	chr14	96944967	96944967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgtcttcaactattTtgatgaacttgaaattcacc	6	8	3	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr14:96944967T>C	ENST00000267584.4	+	15	1765	c.1721T>C	c.(1720-1722)tTt>tCt	p.F574S		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	574	Adenylate kinase.				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)		TTCAACTATTTTGATGAACTT	0.478																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1720-1722)tTt>tCt		adenylate kinase 7							74	63	67					14																	96944967		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96944967T>C	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.1721T>C	14.37:g.96944967T>C	ENSP00000267584:p.Phe574Ser						p.F574S	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	15	1765	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	574					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.1721T>C	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628876	0.67015	.	.	ENSG00000140057	ENST00000267584	D	0.93488	-3.23	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97340	0.9956	10	0.87932	D	0	-23.0827	14.7411	0.69455	0.0:0.0:0.0:1.0	.	574	Q96M32	KAD7_HUMAN	S	574	ENSP00000267584:F574S	ENSP00000267584:F574S	F	+	2	0	AK7	96014720	1.000000	0.71417	0.424000	0.26647	0.419000	0.31324	7.714000	0.84703	1.889000	0.54706	0.391000	0.25812	TTT		0.478	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			36	48	0	0	0	1	0	36	48					C	96944967	T	C	96944967	3	2	266	1	0	0	0	0	1	0	0	0	444	1841	64	3	1779	3	AK7	14	96944967	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		96944967	10404573	19	29281											
ZNF592	9640	broad.mit.edu	37	chr15	85327543	85327543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccaccaggtgaaaaAggctgccccactgattgtag	11	12	0	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:85327543A>G	ENST00000560079.2	+	4	1925	c.1637A>G	c.(1636-1638)aAg>aGg	p.K546R	ZNF592_ENST00000299927.3_Missense_Mutation_p.K546R	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	546					cell death (GO:0008219)|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)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGTGAAAAAGGCTGCCCCA	0.572																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1636-1638)aAg>aGg		zinc finger protein 592							79	80	80					15																	85327543		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327543A>G	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1637A>G	15.37:g.85327543A>G	ENSP00000452877:p.Lys546Arg					ZNF592_ENST00000560079.2_Missense_Mutation_p.K546R	p.K546R			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1659	+			546					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1637A>G	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578390	0.28180	.	.	ENSG00000166716	ENST00000299927	T	0.00605	6.27	4.63	4.63	0.57726	.	0.413038	0.27759	N	0.017974	T	0.00524	0.0017	N	0.02916	-0.46	0.29399	N	0.862047	D	0.67145	0.996	P	0.60609	0.877	T	0.59461	-0.7450	10	0.07990	T	0.79	-21.5885	7.5671	0.27885	0.8098:0.0:0.0:0.1902	.	546	Q92610	ZN592_HUMAN	R	546	ENSP00000299927:K546R	ENSP00000299927:K546R	K	+	2	0	ZNF592	83128547	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.535000	0.53575	1.931000	0.55961	0.533000	0.62120	AAG		0.572	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		3	68	0	0	0	1	0	3	68					G	85327543	A	G	85327543	3	3	266	1	0	0	0	0	1	0	0	0	18019	72	3	3	1639	3	ZNF592	15	85327543	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		85327543	17203849	20	29282											
ANPEP	290	broad.mit.edu	37	chr15	90342683	90342683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctctctgcagctgagtctGaatcttcctccagttctctt	7	13	5	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:90342683G>T	ENST00000300060.6	-	13	2240	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	643	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	AGCTGAGTCTGAATCTTCCTC	0.592																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1927-1929)Cag>Aag		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						139	127	131					15																	90342683		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90342683G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1927C>A	15.37:g.90342683G>T	ENSP00000300060:p.Gln643Lys					ANPEP_ENST00000558177.1_5'UTR	p.Q643K	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		13	2240	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		643			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.1927C>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.036002	0.35893	.	.	ENSG00000166825	ENST00000300060	T	0.05025	3.51	5.07	5.07	0.68467	.	0.394448	0.26207	N	0.025717	T	0.08358	0.0208	L	0.45698	1.435	0.31734	N	0.636625	B	0.26672	0.156	B	0.36030	0.216	T	0.08027	-1.0742	10	0.05620	T	0.96	.	15.1734	0.72894	0.0:0.0:1.0:0.0	.	643	P15144	AMPN_HUMAN	K	643	ENSP00000300060:Q643K	ENSP00000300060:Q643K	Q	-	1	0	ANPEP	88143687	1.000000	0.71417	0.974000	0.42286	0.638000	0.38207	3.075000	0.50073	2.368000	0.80403	0.563000	0.77884	CAG		0.592	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			3	59	1	0	1	1	1	3	59					T	90342683	G	T	90342683	3	4	266	1	0	0	0	0	1	0	0	0	710	1299	45	4	1012	4	ANPEP	15	90342683	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	5015140	90342683	12188709	21	29283											
ZZEF1	23140	broad.mit.edu	37	chr17	3970464	3970464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaatcttaccatccatAttcgaatcccatctgccaag	4	12	2	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:3970464A>G	ENST00000381638.2	-	27	4272	c.4148T>C	c.(4147-4149)aTa>aCa	p.I1383T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1383							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATCCATATTCGAATCCC	0.393																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(4147-4149)aTa>aCa		zinc finger, ZZ-type with EF-hand domain 1							87	78	81					17																	3970464		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3970464A>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4148T>C	17.37:g.3970464A>G	ENSP00000371051:p.Ile1383Thr						p.I1383T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			27	4272	-			1383					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4148T>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136530	0.37728	.	.	ENSG00000074755	ENST00000381638	T	0.20200	2.09	5.21	5.21	0.72293	.	0.158271	0.56097	D	0.000023	T	0.17023	0.0409	L	0.29908	0.895	0.41730	D	0.989557	B	0.09022	0.002	B	0.08055	0.003	T	0.04915	-1.0918	10	0.25106	T	0.35	-11.9543	15.39	0.74735	1.0:0.0:0.0:0.0	.	1383	O43149	ZZEF1_HUMAN	T	1383	ENSP00000371051:I1383T	ENSP00000371051:I1383T	I	-	2	0	ZZEF1	3917213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.673000	0.74482	2.103000	0.63969	0.533000	0.62120	ATA		0.393	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	42	0	0	0	1	0	3	42					G	3970464	A	G	3970464	3	3	266	1	0	0	0	0	1	0	0	0	18252	449	16	3	4853	3	ZZEF1	17	3970464	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		3970464	77224746	22	29284											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	4	0	0	0	1	0	13	4					T	7577120	C	T	7577120	3	4	266	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	3606656	7577120	73618090	23	29285											
MYH2	4620	broad.mit.edu	37	chr17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctctgtgCgctggatggcgtccgtctcg	11	17	2	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					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)	p.R1388H(2)		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						CTCCTCTGTGCGCTGGATGGC	0.512																																						ENST00000245503.5																			2	Substitution - Missense(2)	p.R1388H(2)	ovary(1)|kidney(1)	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						c.(4162-4164)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult							175	162	166					17																	10429940		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429940C>T		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.4163G>A	17.37:g.10429940C>T	ENSP00000245503:p.Arg1388His					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H	p.R1388H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			30	4547	-			1388					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4163G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504663	0.96371	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.91402	0.7287	M	0.89030	3	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.92664	0.6144	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1388	Q9UKX2	MYH2_HUMAN	H	1388	ENSP00000245503:R1388H;ENSP00000380367:R1388H	ENSP00000245503:R1388H	R	-	2	0	MYH2	10370665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	CGC		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	145	0	0	0	1	0	52	145					T	10429940	C	T	10429940	3	4	266	1	0	0	0	0	1	0	0	0	10035	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	2852820	10429940	70765270	24	29286											
TUBG1	7283	broad.mit.edu	37	chr17	40767042	40767042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagactacatctcctggGgcacccaggagcagtgagtc	13	13	1	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:40767042G>A	ENST00000251413.3	+	11	1401	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	447					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	CATCTCCTGGGGCACCCAGGA	0.582																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1339-1341)Ggc>Agc		tubulin, gamma 1							63	65	64					17																	40767042		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40767042G>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1339G>A	17.37:g.40767042G>A	ENSP00000251413:p.Gly447Ser						p.G447S	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1401	+		Breast(137;0.00116)	447					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1339G>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894996	0.72639	.	.	ENSG00000131462	ENST00000251413	T	0.77750	-1.12	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.65498	2.005	0.80722	D	1	B	0.25351	0.124	B	0.21151	0.033	T	0.75036	-0.3459	10	0.44086	T	0.13	-15.8081	18.361	0.90374	0.0:0.0:1.0:0.0	.	447	P23258	TBG1_HUMAN	S	447	ENSP00000251413:G447S	ENSP00000251413:G447S	G	+	1	0	TUBG1	38020568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.837000	0.99465	2.339000	0.79563	0.563000	0.77884	GGC		0.582	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		4	36	0	0	0	1	0	4	36					A	40767042	G	A	40767042	3	1	266	1	0	0	0	0	1	0	0	0	16761	1232	43	2	1381	2	TUBG1	17	40767042	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	30337102	40767042	40428168	25	29287											
CCNB3	85417	broad.mit.edu	37	chrX	50055581	50055581	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagcagtgatccaagTttcaacccaatgtatgccaa	9	10	1	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:50055581T>A	ENST00000376042.1	+	7	3670	c.3372T>A	c.(3370-3372)agT>agA	p.S1124R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1124R			Q8WWL7	CCNB3_HUMAN	cyclin B3	1124					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)					GTGATCCAAGTTTCAACCCAA	0.383																																						ENST00000376042.1																			0				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						c.(3370-3372)agT>agA		cyclin B3							204	181	189					X																	50055581		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50055581T>A	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.3372T>A	X.37:g.50055581T>A	ENSP00000365210:p.Ser1124Arg					CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1124R|CCNB3_ENST00000348603.2_Intron	p.S1124R			Q8WWL7	CCNB3_HUMAN			7	3670	+	Ovarian(276;0.236)		1124					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3372T>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978187	0.34942	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.16597	2.33;2.33	4.89	-0.878	0.10617	Cyclin-like (1);	1.511620	0.03481	N	0.215163	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	P;P	0.49783	0.928;0.843	P;P	0.45232	0.474;0.474	T	0.05533	-1.0879	9	.	.	.	.	3.5443	0.07823	0.2873:0.1692:0.0:0.5436	.	1124;1124	A8K8T9;Q8WWL7	.;CCNB3_HUMAN	R	1124	ENSP00000365210:S1124R;ENSP00000276014:S1124R	.	S	+	3	2	CCNB3	50072321	0.206000	0.23470	0.003000	0.11579	0.016000	0.09150	0.987000	0.29603	-0.602000	0.05775	0.339000	0.21740	AGT		0.383	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			19	117	0	0	0	1	0	19	117					A	50055581	T	A	50055581	3	1	266	1	0	0	0	0	1	0	0	0	2914	1722	60	5	3390	5	CCNB3	23	50055581	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		50055581	105214979	26	29288											
ATRX	546	broad.mit.edu	37	chrX	76920224	76920224	+	Frame_Shift_Del	DEL	A	A	-													agatccatcctcatcagaggAaagattggctttaatttctt							TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:76920224delA	ENST00000373344.5	-	11	4067	c.3853delT	c.(3853-3855)tccfs	p.S1286fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1248fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1286	Interaction with DAXX.			S -> P (in Ref. 4; BAD92165). {ECO:0000305}.	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						TCATCAGAGGAAAGATTGGCT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3853-3855)ccfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						120	107	111					X																	76920224		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920224delA	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.3853delT	X.37:g.76920224delA	ENSP00000362441:p.Ser1286fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1248fs|ATRX_ENST00000480283.1_5'UTR	p.S1286fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4067	-			1286	S -> P (in Ref. 4; BAD92165).				D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3853delT	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	50						13	50	---	---	---	---	-	76920224	A	-	76920224	7	5	266	1	0	1	0	1	0	0	0	0	1208	246	9	0	3725	0	ATRX	23	76920224	Frame_Shift_Del	DEL	A	TCGA-HT-7686-01A-11D-2253-08	26864643	76920224	78350336	27	29289											
ATP2B3	492	broad.mit.edu	37	chrX	152826160	152826160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcgacatcgacagcGggaggaatgcgcccctgcac	11	14	2	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:152826160G>A	ENST00000349466.2	+	18	3192	c.2866G>A	c.(2866-2868)Ggg>Agg	p.G956R	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G956R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G956R|ATP2B3_ENST00000370186.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G942R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	956					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGACAGCGGGAGGAATGC	0.552																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(2824-2826)Ggg>Agg		ATPase, Ca++ transporting, plasma membrane 3							175	136	149					X																	152826160		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152826160G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2866G>A	X.37:g.152826160G>A	ENSP00000343886:p.Gly956Arg					ATP2B3_ENST00000263519.4_Missense_Mutation_p.G956R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G956R|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G942R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G956R	p.G942R			Q16720	AT2B3_HUMAN			17	3150	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		956					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2824G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502238	0.64298	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.99	4.99	0.66335	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74348	0.943;0.983	D	0.99104	1.0844	10	0.72032	D	0.01	-32.1281	16.1261	0.81397	0.0:0.0:1.0:0.0	.	956;956	Q16720;Q16720-2	AT2B3_HUMAN;.	R	942;956;942;956;956;942	ENSP00000359205:G942R;ENSP00000343886:G956R;ENSP00000377425:G942R;ENSP00000352062:G956R;ENSP00000263519:G956R;ENSP00000359200:G942R	ENSP00000263519:G956R	G	+	1	0	ATP2B3	152479354	1.000000	0.71417	0.416000	0.26546	0.134000	0.20937	9.843000	0.99491	2.057000	0.61298	0.519000	0.50382	GGG		0.552	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		3	73	0	0	0	1	0	3	73					A	152826160	G	A	152826160	3	1	266	1	0	0	0	0	1	0	0	0	1141	1116	39	1	2932	1	ATP2B3	23	152826160	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	75905936	152826160	2444400	28	29290											
HIVEP3	59269	broad.mit.edu	37	chr1	42050151	42050151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctcaggtttgccaggCgacatgaatgctggtgtcag	14	8	2	2	rs371696795		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:42050151C>T	ENST00000372583.1	-	4	1203	c.318G>A	c.(316-318)tcG>tcA	p.S106S	HIVEP3_ENST00000372584.1_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S|HIVEP3_ENST00000429157.2_Silent_p.S106S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	106					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)				GTTTGCCAGGCGACATGAATG	0.617																																						ENST00000372584.1																			0				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						c.(316-318)tcG>tcA		human immunodeficiency virus type I enhancer binding protein 3		C	,	0,4406		0,0,2203	144	152	149		318,318	-9.1	0.1	1		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	106/2406,106/2407	42050151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050151C>T	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.318G>A	1.37:g.42050151C>T						HIVEP3_ENST00000429157.2_Silent_p.S106S|HIVEP3_ENST00000372583.1_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S	p.S106S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1332	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	106					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.318G>A	CCDS463.1																																																																																				0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		98	42	0	0	0	1	0	98	42					T	42050151	C	T	42050151	2	4	267	1	0	0	0	0	0	0	0	1	7188	755	27	1		1	HIVEP3	1	42050151	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		42050151	207200470	1	29291											
TNN	63923	broad.mit.edu	37	chr1	175116175	175116175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctgggcagaaagaagCggacgctgagaggaaggctg	17	8	0	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:175116175C>T	ENST00000239462.4	+	19	3981	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1290					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAAGAAGCGGACGCTGAG	0.592											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3868-3870)Cgg>Tgg		tenascin N							59	55	56					1																	175116175		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116175C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3868C>T	1.37:g.175116175C>T	ENSP00000239462:p.Arg1290Trp		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.R1290W	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3981	+		Breast(1374;0.000962)	1290					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3868C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089186	0.76756	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.29655	1.56	5.47	-2.48	0.06423	.	0.058763	0.64402	D	0.000004	T	0.52108	0.1714	M	0.77820	2.39	0.39951	D	0.974549	D	0.89917	1.0	D	0.66979	0.948	T	0.65117	-0.6246	10	0.87932	D	0	.	17.3221	0.87238	0.8225:0.1775:0.0:0.0	.	1290	Q9UQP3	TENN_HUMAN	W	1290;1113	ENSP00000239462:R1290W	ENSP00000239462:R1290W	R	+	1	2	TNN	173382798	0.973000	0.33851	0.145000	0.22337	0.823000	0.46562	0.274000	0.18680	-0.261000	0.09405	-0.247000	0.11927	CGG		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		15	24	0	0	0	1	0	15	24					T	175116175	C	T	175116175	3	4	267	1	0	0	0	0	1	0	0	0	16320	759	27	1	3938	1	TNN	1	175116175	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	133066024	175116175	74134446	2	29292											
CACNA1S	779	broad.mit.edu	37	chr1	201042735	201042735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagcttcttggccatcGttgacttctcctcttctgac	7	15	4	2	rs147112322		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:201042735G>A	ENST00000362061.3	-	15	2325	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	700					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)	CTTGGCCATCGTTGACTTCTC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21114	0.0		0.001	False		,,,				2504	0.0					ENST00000362061.3																			0				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						c.(2098-2100)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	380	361	368		2099	-1.4	0	1	dbSNP_134	368	0,8600		0,0,4300	yes	missense	CACNA1S	NM_000069.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	700/1874	201042735	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201042735G>A	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.2099C>T	1.37:g.201042735G>A	ENSP00000355192:p.Thr700Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M	p.T700M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			15	2325	-			700					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2099C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	4.026	0.002315	0.07819	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96104	-3.91;-3.84	4.39	-1.38	0.09027	.	86.564400	0.05806	U	0.613207	T	0.81837	0.4907	N	0.00182	-1.905	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.71354	-0.4618	10	0.45353	T	0.12	.	10.866	0.46856	0.5244:0.0:0.4756:0.0	.	700	Q13698	CAC1S_HUMAN	M	700	ENSP00000355192:T700M;ENSP00000356307:T700M	ENSP00000355192:T700M	T	-	2	0	CACNA1S	199309358	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	-0.625000	0.05534	-0.602000	0.05775	-1.050000	0.02344	ACG		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		52	515	0	0	0	1	0	52	515					A	201042735	G	A	201042735	3	1	267	1	0	0	0	0	1	0	0	0	2547	1145	40	1	3642	1	CACNA1S	1	201042735	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25926560	201042735	48207886	3	29293											
LEFTY2	7044	broad.mit.edu	37	chr1	226125277	226125277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacgatcatgggcagcgagGcagtctccgaggcgatacac	14	11	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:226125277G>T	ENST00000366820.5	-	4	1313	c.965C>A	c.(964-966)gCc>gAc	p.A322D	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	322					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)					GGGCAGCGAGGCAGTCTCCGA	0.647																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(964-966)gCc>gAc		left-right determination factor 2							39	39	39					1																	226125277		2203	4300	6503	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125277G>T	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.965C>A	1.37:g.226125277G>T	ENSP00000355785:p.Ala322Asp					LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D	p.A322D	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			4	1313	-	Breast(184;0.197)		322					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.965C>A	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.551121	0.65311	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.62232	0.04;0.04	5.1	5.1	0.69264	Transforming growth factor-beta, C-terminal (2);	0.352939	0.32819	N	0.005601	T	0.67429	0.2892	L	0.36672	1.1	0.47123	D	0.999328	P;P	0.51147	0.942;0.921	P;P	0.54856	0.697;0.762	T	0.70267	-0.4919	10	0.62326	D	0.03	.	18.4701	0.90771	0.0:0.0:1.0:0.0	.	288;322	E9PDM4;O00292	.;LFTY2_HUMAN	D	288;322	ENSP00000388009:A288D;ENSP00000355785:A322D	ENSP00000355785:A322D	A	-	2	0	LEFTY2	224191900	1.000000	0.71417	0.007000	0.13788	0.143000	0.21401	8.541000	0.90644	2.518000	0.84900	0.561000	0.74099	GCC		0.647	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		3	48	1	0	1	1	1	3	48					T	226125277	G	T	226125277	3	4	267	1	0	0	0	0	1	0	0	0	8716	1203	42	4	139	4	LEFTY2	1	226125277	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25082542	226125277	23125344	4	29294											
OBSCN	84033	broad.mit.edu	37	chr1	228432192	228432192	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacggaggctggtgctgcCacaggcgggcaaagcagatg	16	11	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:228432192C>A	ENST00000422127.1	+	11	3445	c.3401C>A	c.(3400-3402)cCa>cAa	p.P1134Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.P1226Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1134	Ig-like 11.				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)				CTGGTGCTGCCACAGGCGGGC	0.587																																						ENST00000570156.2																			0				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						c.(3676-3678)cCa>cAa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							73	81	78					1																	228432192		2055	4201	6256	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432192C>A	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.3401C>A	1.37:g.228432192C>A	ENSP00000409493:p.Pro1134Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366709.4_5'UTR	p.P1226Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			12	3751	+		Prostate(94;0.0405)	172			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3677C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	0.026	-1.370001	0.01225	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.64618	-0.11;-0.11	3.44	-0.429	0.12303	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.559890	0.17711	N	0.164576	T	0.25901	0.0631	N	0.02391	-0.57	0.50171	D	0.999856	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.002	T	0.04178	-1.0971	10	0.13108	T	0.6	.	2.8084	0.05434	0.5105:0.2768:0.0798:0.1329	.	1134;1134	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1134	ENSP00000284548:P1134Q;ENSP00000409493:P1134Q	ENSP00000284548:P1134Q	P	+	2	0	OBSCN	226498815	0.001000	0.12720	0.988000	0.46212	0.000000	0.00434	1.113000	0.31184	-0.295000	0.08960	-3.581000	0.00029	CCA		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	80	1	0	1.08611e-07	1	1.14514e-07	8	80					A	228432192	C	A	228432192	3	1	267	1	0	0	0	0	1	0	0	0	10812	594	21	4	3439	4	OBSCN	1	228432192	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	2306915	228432192	20818429	5	29295											
ZNF238	10472	broad.mit.edu	37	chr1	244218515	244218515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcacgcctgcaagtggtGcgagcgcaggttcacgcagt	15	13	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:244218515G>A	ENST00000358704.4	+	2	1588	c.1439G>A	c.(1438-1440)tGc>tAc	p.C480Y		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	471					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)										TGCAAGTGGTGCGAGCGCAGG	0.597																																						ENST00000358704.4																			0											c.(1438-1440)tGc>tAc		zinc finger and BTB domain containing 18							63	62	62					1																	244218515		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244218515G>A	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.1439G>A	1.37:g.244218515G>A	ENSP00000351539:p.Cys480Tyr						p.C480Y	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1588	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1439G>A	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429873	0.62844	.	.	ENSG00000179456	ENST00000358704	D	0.85861	-2.04	5.78	5.78	0.91487	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	0.94155	0.8125	M	0.90252	3.1	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	D	0.94582	0.7780	10	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	471;480	Q99592;Q99592-2	ZN238_HUMAN;.	Y	480	ENSP00000351539:C480Y	ENSP00000351539:C480Y	C	+	2	0	ZNF238	242285138	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	TGC		0.597	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		28	50	0	0	0	1	0	28	50					A	244218515	G	A	244218515	3	1	267	1	0	0	0	0	1	0	0	0	17787	1319	46	2	1445	2	ZNF238	1	244218515	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	15786323	244218515	5032106	6	29296											
MYT1L	23040	broad.mit.edu	37	chr2	1926215	1926215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatggcctttgctctttcCgtttccaaagcgatggcttt	8	12	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:1926215C>T	ENST00000399161.2	-	10	2073	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	MYT1L_ENST00000428368.2_Silent_p.T442T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	442					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)			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)		TTGCTCTTTCCGTTTCCAAAG	0.547																																						ENST00000399161.2																			0				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						c.(1324-1326)acG>acA		myelin transcription factor 1-like							159	155	156					2																	1926215		2018	4163	6181	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926215C>T	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.1326G>A	2.37:g.1926215C>T						MYT1L_ENST00000428368.2_Silent_p.T442T	p.T442T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2073	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	442					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1326G>A																																																																																					0.547	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		66	98	0	0	0	1	0	66	98					T	1926215	C	T	1926215	2	4	267	1	0	0	0	0	0	0	0	1	10107	639	23	1		1	MYT1L	2	1926215	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		1926215	241273158	7	29297											
C2orf43	60526	broad.mit.edu	37	chr2	21001131	21001131	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgatcatgaaagaggtctgtCcagggcccacattttagaac	10	9	2	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:21001131C>G	ENST00000237822.3	-	2	172	c.93G>C	c.(91-93)tgG>tgC	p.W31C	C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	31										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTCTGTCCAGGGCCCAC	0.423																																						ENST00000237822.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(91-93)tgG>tgC		chromosome 2 open reading frame 43							96	96	96					2																	21001131		2203	4300	6503	SO:0001583	missense	60526							g.chr2:21001131C>G	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.93G>C	2.37:g.21001131C>G	ENSP00000237822:p.Trp31Cys					C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C	p.W31C	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN			2	172	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		31					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.93G>C	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437532	0.43224	.	.	ENSG00000118961	ENST00000381090;ENST00000237822;ENST00000435420;ENST00000440866;ENST00000412261;ENST00000402479;ENST00000419825	.	.	.	5.93	5.06	0.68205	.	0.000000	0.64402	D	0.000004	T	0.75064	0.3799	L	0.55481	1.735	0.80722	D	1	B;B;B;D;B;B	0.89917	0.275;0.023;0.246;1.0;0.088;0.179	B;B;B;D;B;B	0.85130	0.108;0.031;0.088;0.997;0.045;0.076	T	0.74665	-0.3589	9	0.39692	T	0.17	-9.1214	16.231	0.82343	0.0:0.8668:0.1332:0.0	.	31;31;31;31;31;31	B4DS38;B4DRG3;B7ZAJ5;B4DWE2;Q9H6V9;B5MDU6	.;.;.;.;CB043_HUMAN;.	C	31	.	ENSP00000237822:W31C	W	-	3	0	C2orf43	20864612	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	4.748000	0.62148	1.520000	0.48965	0.555000	0.69702	TGG		0.423	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		45	81	0	0	0	1	0	45	81					G	21001131	C	G	21001131	3	3	267	1	0	0	0	0	1	0	0	0	2167	856	30	4	908	4	C2orf43	2	21001131	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	19074916	21001131	222198242	8	29298											
RANBP2	5903	broad.mit.edu	37	chr2	109382889	109382889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtttggcaaaaaagAccccaatttcaagggatttt	7	7	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:109382889A>G	ENST00000283195.6	+	20	6020	c.5894A>G	c.(5893-5895)gAc>gGc	p.D1965G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1965					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						GGCAAAAAAGACCCCAATTTC	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(5893-5895)gAc>gGc		RAN binding protein 2							66	79	75					2																	109382889		2139	4257	6396	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382889A>G	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.5894A>G	2.37:g.109382889A>G	ENSP00000283195:p.Asp1965Gly						p.D1965G	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6020	+			1965					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.5894A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948011	0.53186	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30448	1.53	5.75	5.75	0.90469	.	.	.	.	.	T	0.52773	0.1755	M	0.66939	2.045	0.32666	N	0.517469	D	0.76494	0.999	D	0.64144	0.922	T	0.64964	-0.6283	9	0.59425	D	0.04	-25.8064	16.0628	0.80852	1.0:0.0:0.0:0.0	.	1965	P49792	RBP2_HUMAN	G	989;1965	ENSP00000283195:D1965G	ENSP00000283195:D1965G	D	+	2	0	RANBP2	108749321	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.410000	0.80065	2.189000	0.69895	0.455000	0.32223	GAC		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		13	295	0	0	0	1	0	13	295					G	109382889	A	G	109382889	3	3	267	1	0	0	0	0	1	0	0	0	13028	275	10	3	5972	3	RANBP2	2	109382889	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	88381758	109382889	133816484	9	29299											
BUB1	699	broad.mit.edu	37	chr2	111398886	111398886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagcataacacttgcccGtttccaagtatgaaattgtc	6	9	0	1	rs546139108		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:111398886G>A	ENST00000302759.6	-	22	2899	c.2781C>T	c.(2779-2781)aaC>aaT	p.N927N	BUB1_ENST00000535254.1_Silent_p.N907N|BUB1_ENST00000478175.1_5'Flank|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	927	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ACACTTGCCCGTTTCCAAGTA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19646	0.001		0.0	False		,,,				2504	0.0					ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2719-2721)aaC>aaT		BUB1 mitotic checkpoint serine/threonine kinase							120	117	118					2																	111398886		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398886G>A	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.2781C>T	2.37:g.111398886G>A						BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.N927N	p.N907N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2788	-		Ovarian(717;0.0822)	927			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2721C>T	CCDS33273.1																																																																																				0.383	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	109	0	0	0	1	0	4	109					A	111398886	G	A	111398886	2	1	267	1	0	0	0	0	0	0	0	1	1570	1136	40	1		1	BUB1	2	111398886	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	2015997	111398886	131800487	10	29300											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			48	70	0	0	0	1	0	48	70					T	209113112	C	T	209113112	3	4	267	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	97714226	209113112	34086261	11	29301											
CNTN3	5067	broad.mit.edu	37	chr3	74383984	74383984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctaacagcgggtcatgttGtacctggcagggcaatatga	13	8	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:74383984G>T	ENST00000263665.6	-	12	1597	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	524	Ig-like C2-type 6.				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)		GGGTCATGTTGTACCTGGCAG	0.418																																						ENST00000263665.6																			0				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						c.(1570-1572)Caa>Aaa		contactin 3 (plasmacytoma associated)							124	116	119					3																	74383984		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74383984G>T	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.1570C>A	3.37:g.74383984G>T	ENSP00000263665:p.Gln524Lys						p.Q524K	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	12	1597	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	524			Ig-like C2-type 6.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1570C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962319	0.34659	.	.	ENSG00000113805	ENST00000263665	T	0.65916	-0.18	5.25	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.528270	0.20864	N	0.084291	T	0.35998	0.0951	N	0.05230	-0.09	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.16689	-1.0394	10	0.16896	T	0.51	.	8.5734	0.33583	0.076:0.0:0.7706:0.1534	.	524	Q9P232	CNTN3_HUMAN	K	524	ENSP00000263665:Q524K	ENSP00000263665:Q524K	Q	-	1	0	CNTN3	74466674	0.439000	0.25610	0.994000	0.49952	0.979000	0.70002	1.172000	0.31908	1.182000	0.42928	0.655000	0.94253	CAA		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		37	61	1	0	1.15183e-24	1	1.24142e-24	37	61					T	74383984	G	T	74383984	3	4	267	1	0	0	0	0	1	0	0	0	3642	1386	48	4	1560	4	CNTN3	3	74383984	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		74383984	123638446	12	29302											
OR5K3	403277	broad.mit.edu	37	chr3	98109669	98109669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatttatatagagcaaCgtcttcacacaccaatgtac	5	10	2	2	rs150899692		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:98109669C>T	ENST00000383695.1	+	1	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATAGAGCAACGTCTTCACAC	0.413																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(160-162)Cgt>Tgt		olfactory receptor, family 5, subfamily K, member 3							290	273	279					3																	98109669		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109669C>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.160C>T	3.37:g.98109669C>T	ENSP00000373194:p.Arg54Cys					RP11-325B23.2_ENST00000508616.1_lincRNA	p.R54C	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	160	+			54						Missense_Mutation	SNP	ENST00000383695.1	37	c.160C>T	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	6.653	0.488949	0.12641	.	.	ENSG00000206536	ENST00000383695	T	0.01152	5.26	5.35	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.369644	0.19791	N	0.105984	T	0.01730	0.0055	L	0.55017	1.72	0.09310	N	1	B	0.28552	0.215	B	0.20955	0.032	T	0.39583	-0.9607	10	0.49607	T	0.09	-2.0386	12.2011	0.54326	0.0:0.916:0.0:0.084	.	54	A6NET4	OR5K3_HUMAN	C	54	ENSP00000373194:R54C	ENSP00000373194:R54C	R	+	1	0	OR5K3	99592359	0.000000	0.05858	0.024000	0.17045	0.155000	0.21991	0.715000	0.25822	1.371000	0.46172	0.603000	0.83216	CGT		0.413	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			95	178	0	0	0	1	0	95	178					T	98109669	C	T	98109669	3	4	267	1	0	0	0	0	1	0	0	0	11168	536	19	1	162	1	OR5K3	3	98109669	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23725685	98109669	99912761	13	29303											
DPPA2	151871	broad.mit.edu	37	chr3	109028103	109028103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggaggcaaaatggtcgGcaagggaagggctggtattt	17	4	0	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:109028103G>A	ENST00000478945.1	-	4	502	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	86					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAATGGTCGGCAAGGGAAGG	0.443																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(256-258)Ccg>Tcg		developmental pluripotency associated 2							149	147	148					3																	109028103		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028103G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.256C>T	3.37:g.109028103G>A	ENSP00000417710:p.Pro86Ser						p.P86S	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	502	-			86					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.256C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722515	0.68959	.	.	ENSG00000163530	ENST00000478945	T	0.78595	-1.19	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000047	D	0.86736	0.6004	M	0.74467	2.265	0.35262	D	0.779669	D	0.89917	1.0	D	0.87578	0.998	D	0.90812	0.4702	10	0.87932	D	0	-22.8253	13.2475	0.60031	0.0:0.0:1.0:0.0	.	86	Q7Z7J5	DPPA2_HUMAN	S	86	ENSP00000417710:P86S	ENSP00000417710:P86S	P	-	1	0	DPPA2	110510793	0.999000	0.42202	0.946000	0.38457	0.043000	0.13939	3.743000	0.55104	2.591000	0.87537	0.561000	0.74099	CCG		0.443	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		4	181	0	0	0	1	0	4	181					A	109028103	G	A	109028103	3	1	267	1	0	0	0	0	1	0	0	0	4734	1203	42	2	660	2	DPPA2	3	109028103	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	10918434	109028103	88994327	14	29304											
PHC3	80012	broad.mit.edu	37	chr3	169835095	169835095	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttaacaatagcctgtggAggtttgttctctatactggg	12	6	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:169835095A>G	ENST00000494943.1	-	10	2144	c.2076T>C	c.(2074-2076)ccT>ccC	p.P692P	PHC3_ENST00000495893.2_Silent_p.P704P|PHC3_ENST00000467570.1_Silent_p.P651P			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	692					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655)			TAGCCTGTGGAGGTTTGTTCT	0.433																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2074-2076)ccT>ccC		polyhomeotic homolog 3 (Drosophila)							193	180	184					3																	169835095		1919	4137	6056	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169835095A>G		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2076T>C	3.37:g.169835095A>G						PHC3_ENST00000495893.1_Silent_p.P704P|PHC3_ENST00000467570.1_Silent_p.P651P	p.P692P			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		10	2144	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		692					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.2076T>C		.	.	.	.	.	.	.	.	.	.	A	0.319	-0.962999	0.02249	.	.	ENSG00000173889	ENST00000486042	.	.	.	5.45	1.7	0.24286	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	-17.8281	3.2083	0.06674	0.5345:0.2641:0.071:0.1305	.	.	.	.	P	166	.	.	S	-	1	0	PHC3	171317789	0.990000	0.36364	1.000000	0.80357	0.022000	0.10575	0.404000	0.20999	0.345000	0.23873	-0.452000	0.05504	TCC		0.433	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		6	65	0	0	0	1	0	6	65					G	169835095	A	G	169835095	2	3	267	1	0	0	0	0	0	0	0	1	11818	291	11	3		3	PHC3	3	169835095	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	60806992	169835095	28187335	15	29305											
OPA1	4976	broad.mit.edu	37	chr3	193360822	193360822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaatgtgaaagaaggctGtaccgttagccctgaggtaa	12	6	0	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:193360822G>A	ENST00000392438.3	+	11	1358	c.1124G>A	c.(1123-1125)tGt>tAt	p.C375Y	OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y|OPA1_ENST00000361510.2_Missense_Mutation_p.C430Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	375	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)		AAAGAAGGCTGTACCGTTAGC	0.323																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1288-1290)tGt>tAt		optic atrophy 1 (autosomal dominant)							72	74	74					3																	193360822		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193360822G>A	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.1124G>A	3.37:g.193360822G>A	ENSP00000376233:p.Cys375Tyr					OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000392438.3_Missense_Mutation_p.C375Y|OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y	p.C430Y	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	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)	13	1523	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		375		Missing (in OPA1).|N -> D (in OPA1).			D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1289G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020144	0.35606	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.52	2.67	0.31697	Dynamin, GTPase domain (2);	0.309982	0.40469	N	0.001094	D	0.87799	0.6268	N	0.03608	-0.345	0.37900	D	0.931007	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	0.10450	0.0;0.002;0.005;0.0;0.003;0.005;0.002;0.005	T	0.81982	-0.0683	10	0.59425	D	0.04	-2.2384	6.9094	0.24327	0.1561:0.1416:0.7023:0.0	.	339;375;357;376;393;412;394;430	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Y	412;375;430;394;393;376	ENSP00000354681:C412Y;ENSP00000376233:C375Y;ENSP00000355324:C430Y;ENSP00000355311:C394Y;ENSP00000354429:C393Y;ENSP00000354781:C376Y	ENSP00000354781:C376Y	C	+	2	0	OPA1	194843516	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.497000	0.53295	0.664000	0.31047	-0.251000	0.11542	TGT		0.323	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		3	44	0	0	0	1	0	3	44					A	193360822	G	A	193360822	3	1	267	1	0	0	0	0	1	0	0	0	10871	1377	48	2	1339	2	OPA1	3	193360822	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	23525727	193360822	4661608	16	29306											
LMLN	89782	broad.mit.edu	37	chr3	197707307	197707307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgttggtgctctggccacCgagagatgcagccatgaaaa	12	10	1	2	rs566428236		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:197707307C>T	ENST00000330198.4	+	6	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_ENST00000420910.2_Silent_p.T220T|LMLN_ENST00000482695.1_Silent_p.T168T|LMLN_ENST00000332636.5_Silent_p.T168T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	220					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)	p.T220T(1)		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)		CTCTGGCCACCGAGAGATGCA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0					ENST00000330198.4																			1	Substitution - coding silent(1)	p.T220T(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(658-660)acC>acT		leishmanolysin-like (metallopeptidase M8 family)							156	146	149					3																	197707307		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707307C>T	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.660C>T	3.37:g.197707307C>T						LMLN_ENST00000420910.2_Silent_p.T220T|LMLN_ENST00000332636.5_Silent_p.T168T|LMLN_ENST00000482695.1_Silent_p.T168T	p.T220T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	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)	6	682	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	220					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.660C>T	CCDS3332.1																																																																																				0.502	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		5	203	0	0	0	1	0	5	203					T	197707307	C	T	197707307	2	4	267	1	0	0	0	0	0	0	0	1	8847	639	23	1		1	LMLN	3	197707307	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	4346485	197707307	315123	17	29307											
HTT	3064	broad.mit.edu	37	chr4	3225848	3225848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcccttctctgtctccGgctactacaggtacctgagg	9	15	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:3225848G>A	ENST00000355072.5	+	56	7900	c.7755G>A	c.(7753-7755)ccG>ccA	p.P2585P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2585					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTGTCTCCGGCTACTACAG	0.512																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7753-7755)ccG>ccA		huntingtin							130	144	140					4																	3225848		2141	4261	6402	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3225848G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7755G>A	4.37:g.3225848G>A							p.P2585P	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	56	7900	+		all_epithelial(65;0.18)	2585					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.7755G>A	CCDS43206.1																																																																																				0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		12	266	0	0	0	1	0	12	266					A	3225848	G	A	3225848	2	1	267	1	0	0	0	0	0	0	0	1	7457	1103	39	1		1	HTT	4	3225848	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3225848	187928428	18	29308											
ANKRD17	26057	broad.mit.edu	37	chr4	73942823	73942823	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacagaaaaaggcatacccTtaaaaaaggaaaacacacac	5	10	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:73942823T>C	ENST00000358602.4	-	33	7704		c.e33-2		ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCATACCCTTAAAAAAGGA	0.388																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.e33-2		ankyrin repeat domain 17							49	46	47					4																	73942823		2202	4300	6502	SO:0001630	splice_region_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73942823T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7588-2A>G	4.37:g.73942823T>C						ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site		NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		33	7704	-	Breast(15;0.000295)							E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Splice_Site	SNP	ENST00000358602.4	37		CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980260	0.53827	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2255	0.48882	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD17	74161687	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.698000	0.74608	2.081000	0.62600	0.383000	0.25322	.		0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Intron	5	29	0	0	0	1	0	5	29					C	73942823	T	C	73942823	5	2	267	1	0	0	0	0	0	0	1	0	646	1623	56	3	233	3	ANKRD17	4	73942823	Splice_Site	SNP	T	TCGA-HT-7687-01A-11D-2253-08	70716975	73942823	117211453	19	29309											
TRIO	7204	broad.mit.edu	37	chr5	14498282	14498282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgtcgagtctgtggccGccccaaagcctcaattacct	9	13	2	1	rs375871711		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:14498282G>A	ENST00000344204.4	+	52	8156	c.8132G>A	c.(8131-8133)cGc>cAc	p.R2711H	TRIO_ENST00000344135.5_Missense_Mutation_p.R210H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2711	Ig-like C2-type.				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)					GTCTGTGGCCGCCCCAAAGCC	0.542																																						ENST00000344204.4																			0				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						c.(8131-8133)cGc>cAc		trio Rho guanine nucleotide exchange factor		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	137	121	127		8132	5.2	1	5		127	0,8600		0,0,4300	no	missense	TRIO	NM_007118.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2711/3098	14498282	1,13005	2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14498282G>A	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.8132G>A	5.37:g.14498282G>A	ENSP00000339299:p.Arg2711His					TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H|TRIO_ENST00000344135.5_Missense_Mutation_p.R210H	p.R2711H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			52	8156	+	Lung NSC(4;0.000742)		2711			Ig-like C2-type.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8132G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884370	0.91814	2.27E-4	0.0	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.67345	-0.26;-0.26;-0.26	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	N	0.12637	0.245	0.31193	N	0.700727	D	0.89917	1.0	D	0.91635	0.999	T	0.72554	-0.4258	10	0.46703	T	0.11	.	19.0249	0.92929	0.0:0.0:1.0:0.0	.	2711	O75962	TRIO_HUMAN	H	2711;2535;2398;210	ENSP00000339299:R2711H;ENSP00000446348:R2535H;ENSP00000339291:R210H	ENSP00000339291:R210H	R	+	2	0	TRIO	14551282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.710000	0.74670	2.573000	0.86826	0.655000	0.94253	CGC		0.542	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	74	0	0	0	1	0	3	74					A	14498282	G	A	14498282	3	1	267	1	0	0	0	0	1	0	0	0	16549	1087	38	1	8338	1	TRIO	5	14498282	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		14498282	166416978	20	29310											
FCHSD1	89848	broad.mit.edu	37	chr5	141023973	141023973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctctgcactctgtcCggtgtagctgtacagggcct	11	14	2	0	rs199678864		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:141023973C>T	ENST00000435817.2	-	17	1725	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	559	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTCTGTCCGGTGTAGCTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16351	0.0		0.001	False		,,,				2504	0.0					ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1675-1677)Gga>Aga		FCH and double SH3 domains 1		C	ARG/GLY	0,3932		0,0,1966	33	36	35		1675	5.4	0.3	5		35	2,8320		0,2,4159	yes	missense	FCHSD1	NM_033449.2	125	0,2,6125	TT,TC,CC		0.024,0.0,0.0163	probably-damaging	559/691	141023973	2,12252	1966	4161	6127	SO:0001583	missense	89848							g.chr5:141023973C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1675G>A	5.37:g.141023973C>T	ENSP00000399259:p.Gly559Arg					FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R	p.G559R	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1725	-			559			SH3 2.		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1675G>A	CCDS47295.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.9	4.778900	0.90195	0.0	2.4E-4	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.51325	0.71;0.71	5.41	5.41	0.78517	Src homology-3 domain (3);Variant SH3 (1);	0.209985	0.37809	N	0.001926	T	0.66479	0.2793	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67288	-0.5708	10	0.87932	D	0	-22.1406	19.0358	0.92978	0.0:1.0:0.0:0.0	.	239;559	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	R	559;485	ENSP00000399259:G559R;ENSP00000428677:G485R	ENSP00000399259:G559R	G	-	1	0	FCHSD1	141004157	0.893000	0.30496	0.340000	0.25575	0.971000	0.66376	7.200000	0.77838	2.833000	0.97629	0.650000	0.86243	GGA		0.622	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		20	23	0	0	0	1	0	20	23					T	141023973	C	T	141023973	3	4	267	1	0	0	0	0	1	0	0	0	5789	661	23	1	413	1	FCHSD1	5	141023973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	126525691	141023973	39891287	21	29311											
SLC36A3	285641	broad.mit.edu	37	chr5	150663635	150663635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagttgagggtgatgctgGcctgggtgtctgacccaaac	15	9	1	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:150663635G>A	ENST00000335230.3	-	8	1355	c.944C>T	c.(943-945)gCc>gTc	p.A315V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	315						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGATGCTGGCCTGGGTGTC	0.498																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(943-945)gCc>gTc		solute carrier family 36, member 3							183	156	165					5																	150663635		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150663635G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.944C>T	5.37:g.150663635G>A	ENSP00000334750:p.Ala315Val					SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V	p.A315V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1355	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	315					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.944C>T	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177938	0.78564	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.2	3.33	0.38152	.	0.232691	0.43416	N	0.000572	T	0.12390	0.0301	M	0.84433	2.695	0.38534	D	0.949047	D;D;D	0.71674	0.995;0.996;0.998	D;D;D	0.71656	0.948;0.969;0.974	T	0.02098	-1.1214	10	0.59425	D	0.04	.	12.1572	0.54083	0.083:0.0:0.917:0.0	.	356;315;300	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	315;356	ENSP00000334750:A315V;ENSP00000366942:A356V	ENSP00000334750:A315V	A	-	2	0	SLC36A3	150643828	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.847000	0.62867	1.133000	0.42147	0.655000	0.94253	GCC		0.498	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		5	160	0	0	0	1	0	5	160					A	150663635	G	A	150663635	3	1	267	1	0	0	0	0	1	0	0	0	14595	1203	42	2	480	2	SLC36A3	5	150663635	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	9639662	150663635	30251625	22	29312											
RREB1	6239	broad.mit.edu	37	chr6	7211105	7211105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatctcctctgaaacGtaggcgattgtcctccaaga	7	15	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:7211105G>A	ENST00000349384.6	+	7	808	c.494G>A	c.(493-495)cGt>cAt	p.R165H	RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000379938.2_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	165					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)				CCTCTGAAACGTAGGCGATTG	0.502																																						ENST00000379938.2																			0				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						c.(493-495)cGt>cAt		ras responsive element binding protein 1							136	128	131					6																	7211105		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7211105G>A	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.494G>A	6.37:g.7211105G>A	ENSP00000305560:p.Arg165His					RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H|RREB1_ENST00000349384.6_Missense_Mutation_p.R165H	p.R165H	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			7	1031	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	165					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.494G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245365	0.80024	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12672	2.79;2.75;2.79;2.66;2.79	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000032	T	0.25827	0.0629	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.975;0.97;0.996	T	0.01424	-1.1358	10	0.23302	T	0.38	-48.4868	17.7287	0.88371	0.0:0.0:1.0:0.0	.	165;165;165	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	H	165	ENSP00000369265:R165H;ENSP00000369270:R165H;ENSP00000305560:R165H;ENSP00000335574:R165H;ENSP00000419511:R165H	ENSP00000335574:R165H	R	+	2	0	RREB1	7156104	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	7.145000	0.77365	2.484000	0.83849	0.585000	0.79938	CGT		0.502	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	190	0	0	0	1	0	5	190					A	7211105	G	A	7211105	3	1	267	1	0	0	0	0	1	0	0	0	13679	1145	40	1	508	1	RREB1	6	7211105	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		7211105	163903962	23	29313											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975227	32975227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatagaagctggtctgggcCactccctcagtgacagtttg	12	10	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:32975227C>T	ENST00000229829.5	-	3	549	c.474G>A	c.(472-474)gtG>gtA	p.V158V	HLA-DOA_ENST00000450833.2_Silent_p.V128V|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	158	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGGTCTGGGCCACTCCCTCAG	0.577																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(472-474)gtG>gtA		major histocompatibility complex, class II, DO alpha							188	178	182					6																	32975227		1511	2709	4220	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975227C>T	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.474G>A	6.37:g.32975227C>T						HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.V128V	p.V158V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			3	549	-			158			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.474G>A	CCDS4763.1																																																																																				0.577	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		91	186	0	0	0	1	0	91	186					T	32975227	C	T	32975227	2	4	267	1	0	0	0	0	0	0	0	1	7200	581	21	2		2	HLA-DOA	6	32975227	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	25764122	32975227	138139840	24	29314											
OPN5	221391	broad.mit.edu	37	chr6	47775993	47775993	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agactccattcccatacagcTctctgtggtgccaaccctac	6	16	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:47775993T>A	ENST00000371211.2	+	5	888	c.860T>A	c.(859-861)cTc>cAc	p.L287H	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000489301.2_Missense_Mutation_p.L287H	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	287					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCCATACAGCTCTCTGTGGTG	0.463																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(859-861)cTc>cAc		opsin 5							289	258	268					6																	47775993		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47775993T>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.860T>A	6.37:g.47775993T>A	ENSP00000360255:p.Leu287His					OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000371211.2_Missense_Mutation_p.L287H	p.L287H			Q6U736	OPN5_HUMAN			5	945	+			287					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.860T>A	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758229	0.89843	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.41065	1.01;1.01;1.01	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.165679	0.53938	D	0.000046	T	0.39462	0.1079	L	0.39898	1.24	0.42735	D	0.993724	D	0.59767	0.986	P	0.56343	0.796	T	0.21999	-1.0229	10	0.44086	T	0.13	.	15.5564	0.76196	0.0:0.0:0.0:1.0	.	287	Q6U736	OPN5_HUMAN	H	287	ENSP00000426991:L287H;ENSP00000360255:L287H;ENSP00000377302:L287H	ENSP00000360255:L287H	L	+	2	0	OPN5	47883952	0.984000	0.35163	0.998000	0.56505	0.990000	0.78478	4.722000	0.61958	2.137000	0.66172	0.533000	0.62120	CTC		0.463	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		63	112	0	0	0	1	0	63	112					A	47775993	T	A	47775993	3	1	267	1	0	0	0	0	1	0	0	0	10883	1551	54	5	878	5	OPN5	6	47775993	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	14800766	47775993	123339074	25	29315											
ZNF292	23036	broad.mit.edu	37	chr6	87968456	87968457	+	Frame_Shift_Del	DEL	AG	AG	-													ttatttatgactgatgtaaaAgagaatttcaaaaccagtct							TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:87968456_87968457delAG	ENST00000369577.3	+	8	5152_5153	c.5109_5110delAG	c.(5107-5112)aaagagfs	p.E1704fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E1699fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1704						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)		CTGATGTAAAAGAGAATTTCAA	0.327																																						ENST00000369577.3																			0				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						c.(5107-5112)aaagfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968456_87968457delAG	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.5109_5110delAG	6.37:g.87968458_87968459delAG	ENSP00000358590:p.Glu1704fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KE1698fs	p.KE1703fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5152_5153	+		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)	1703					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.5109_5110delAG	CCDS47457.1																																																																																				0.327	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		12	31						12	31	---	---	---	---	-	87968457	AG	-	87968456	7	5	267	1	0	1	0	1	0	0	0	0	17823	69	3	0	5139	0	ZNF292	6	87968456	Frame_Shift_Del	DEL	AG	TCGA-HT-7687-01A-11D-2253-08	40192463	87968456	83146611	26	29316											
C6orf58	352999	broad.mit.edu	37	chr6	127911321	127911321	+	Frame_Shift_Del	DEL	C	C	-													tgcagtcctctttcctacaaCcttgattagatcatataagt							TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:127911321delC	ENST00000329722.7	+	5	776	c.764delC	c.(763-765)accfs	p.T255fs		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	255						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTCCTACAACCTTGATTAGA	0.388																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(763-765)acfs		chromosome 6 open reading frame 58							150	149	149					6																	127911321		2203	4300	6503	SO:0001589	frameshift_variant	352999					extracellular region		g.chr6:127911321delC	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.764delC	6.37:g.127911321delC	ENSP00000328069:p.Thr255fs						p.T255fs	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	776	+			255					B4E1I0|Q5VUP2	Frame_Shift_Del	DEL	ENST00000329722.7	37	c.764delC	CCDS34533.1																																																																																				0.388	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		7	190						7	190	---	---	---	---	-	127911321	C	-	127911321	7	5	267	1	0	1	0	1	0	0	0	0	2367	507	18	0	782	0	C6orf58	6	127911321	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	39942865	127911321	43203746	27	29317											
AHI1	54806	broad.mit.edu	37	chr6	135787392	135787392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcagttgctaactgtgtGttcctcaatttgtttttagt	7	6	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:135787392G>A	ENST00000367800.4	-	5	525	c.309C>T	c.(307-309)aaC>aaT	p.N103N	AHI1_ENST00000457866.2_Silent_p.N103N|AHI1_ENST00000327035.6_Silent_p.N103N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	103					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAACTGTGTGTTCCTCAATT	0.393																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(307-309)aaC>aaT		Abelson helper integration site 1							245	225	231					6																	135787392		1900	4126	6026	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787392G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.309C>T	6.37:g.135787392G>A						AHI1_ENST00000327035.6_Silent_p.N103N|AHI1_ENST00000457866.2_Silent_p.N103N	p.N103N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	525	-	Breast(56;0.239)|Colorectal(23;0.24)		103					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.309C>T	CCDS47483.1																																																																																				0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		85	95	0	0	0	1	0	85	95					A	135787392	G	A	135787392	2	1	267	1	0	0	0	0	0	0	0	1	413	1368	48	2		2	AHI1	6	135787392	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7876071	135787392	35327675	28	29318											
PKD1L1	168507	broad.mit.edu	37	chr7	47933628	47933628	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccacacagtagttgCtgtacaccacactgccttca	7	16	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:47933628C>G	ENST00000289672.2	-	15	2350	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	767	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						ACAGTAGTTGCTGTACACCAC	0.572																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(2299-2301)aGc>aCc		polycystic kidney disease 1 like 1							90	68	75					7																	47933628		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933628C>G	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.2300G>C	7.37:g.47933628C>G	ENSP00000289672:p.Ser767Thr						p.S767T	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2350	-			767			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2300G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	16.77	3.215128	0.58452	.	.	ENSG00000158683	ENST00000289672	T	0.68765	-0.35	5.23	4.35	0.52113	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.104209	0.42682	D	0.000675	T	0.78604	0.4309	M	0.63843	1.955	0.25474	N	0.987794	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	10	0.54805	T	0.06	-11.3743	13.6843	0.62506	0.0:0.8439:0.1561:0.0	.	767	Q8TDX9	PK1L1_HUMAN	T	767	ENSP00000289672:S767T	ENSP00000289672:S767T	S	-	2	0	PKD1L1	47900153	1.000000	0.71417	0.179000	0.23059	0.558000	0.35554	3.411000	0.52672	1.197000	0.43143	0.543000	0.68304	AGC		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		33	68	0	0	0	1	0	33	68					G	47933628	C	G	47933628	3	3	267	1	0	0	0	0	1	0	0	0	11964	797	28	4	6421	4	PKD1L1	7	47933628	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		47933628	111205035	29	29319											
ABCA13	154664	broad.mit.edu	37	chr7	48411941	48411941	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggattttgggatgtcAgtcgtcatgctgagctacct	11	9	3	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:48411941A>T	ENST00000435803.1	+	33	11004	c.10980A>T	c.(10978-10980)tcA>tcT	p.S3660S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					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						TTGGGATGTCAGTCGTCATGC	0.458																																						ENST00000435803.1																			0				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						c.(10978-10980)tcA>tcT		ATP-binding cassette, sub-family A (ABC1), member 13							285	278	280					7																	48411941		2030	4197	6227	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411941A>T	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.10980A>T	7.37:g.48411941A>T							p.S3660S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	11004	+			3660					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.10980A>T	CCDS47584.1																																																																																				0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	266	0	0	0	1	0	6	266					T	48411941	A	T	48411941	2	4	267	1	0	0	0	0	0	0	0	1	31	175	7	5		5	ABCA13	7	48411941	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	478313	48411941	110726722	30	29320											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	8	10	1	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					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						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	ENST00000405086.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		GTF2I repeat domain containing 2							141	117	125					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	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.1473A>G	7.37:g.74212378T>C						GTF2IRD2_ENST00000451013.2_Silent_p.K38K	p.K491K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN			16	1662	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		3	106	0	0	0	1	0	3	106					C	74212378	T	C	74212378	2	2	267	1	0	0	0	0	0	0	0	1	6869	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08	25800437	74212378	84926285	31	29321											
CROT	54677	broad.mit.edu	37	chr7	86990776	86990776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaattgaatgtcaactttgCgggtcctgcagctcattttg	9	9	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:86990776C>T	ENST00000331536.3	+	5	496	c.311C>T	c.(310-312)gCg>gTg	p.A104V	CROT_ENST00000419147.2_Missense_Mutation_p.A132V|CROT_ENST00000442291.1_Missense_Mutation_p.A104V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	104					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTCAACTTTGCGGGTCCTGCA	0.423																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(310-312)gCg>gTg		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						128	116	120					7																	86990776		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86990776C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.311C>T	7.37:g.86990776C>T	ENSP00000331981:p.Ala104Val					CROT_ENST00000419147.2_Missense_Mutation_p.A132V|CROT_ENST00000442291.1_Missense_Mutation_p.A104V	p.A104V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			5	496	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		104					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.311C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121098	0.37436	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89415	-2.51;-2.51;-2.51	5.86	-0.991	0.10235	.	0.321963	0.37136	N	0.002225	T	0.76709	0.4025	N	0.21373	0.66	0.20403	N	0.9999	B;B	0.18968	0.018;0.032	B;B	0.16722	0.016;0.01	T	0.59994	-0.7349	10	0.15499	T	0.54	-0.0951	9.7906	0.40704	0.0:0.3379:0.455:0.2071	.	132;104	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	132;104;104	ENSP00000413575:A132V;ENSP00000331981:A104V;ENSP00000411983:A104V	ENSP00000331981:A104V	A	+	2	0	CROT	86828712	0.359000	0.24955	0.102000	0.21198	0.997000	0.91878	0.680000	0.25306	-0.109000	0.12044	0.655000	0.94253	GCG		0.423	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		4	145	0	0	0	1	0	4	145					T	86990776	C	T	86990776	3	4	267	1	0	0	0	0	1	0	0	0	3894	768	27	1	409	1	CROT	7	86990776	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	12778398	86990776	72147887	32	29322											
MUC17	140453	broad.mit.edu	37	chr7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtatacctgtcagcaccaCgccggtactcagttctgagg	10	12	3	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:100679973C>T	ENST00000306151.4	+	3	5340	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1759	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)					GTCAGCACCACGCCGGTACTC	0.502																																						ENST00000306151.4																			0				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						c.(5275-5277)aCg>aTg		mucin 17, cell surface associated							285	298	294					7																	100679973		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679973C>T	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.5276C>T	7.37:g.100679973C>T	ENSP00000302716:p.Thr1759Met						p.T1759M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5340	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1759			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5276C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.930901	0.00053	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	B	0.37451	0.25	T	0.46428	-0.9192	8	0.49607	T	0.09	.	.	.	.	.	1759	Q685J3	MUC17_HUMAN	M	1759	ENSP00000302716:T1759M	ENSP00000302716:T1759M	T	+	2	0	MUC17	100466693	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	0.219000	0.17641	-3.552000	0.00142	-3.604000	0.00028	ACG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		223	351	0	0	0	1	0	223	351					T	100679973	C	T	100679973	3	4	267	1	0	0	0	0	1	0	0	0	9974	536	19	1	5286	1	MUC17	7	100679973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13689197	100679973	58458690	33	29323											
NUP205	23165	broad.mit.edu	37	chr7	135298930	135298930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatatcagttatgtgcatgCtctgatacatctggtcctac	7	9	3	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:135298930C>T	ENST00000285968.6	+	23	3245	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1073					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						TATGTGCATGCTCTGATACAT	0.358																																						ENST00000285968.6																			0				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						c.(3217-3219)tgC>tgT		nucleoporin 205kDa							176	162	167					7																	135298930		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135298930C>T	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.3219C>T	7.37:g.135298930C>T							p.C1073C	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			23	3245	+			1073					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.3219C>T	CCDS34759.1																																																																																				0.358	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	87	0	0	0	1	0	4	87					T	135298930	C	T	135298930	2	4	267	1	0	0	0	0	0	0	0	1	10759	805	28	2		2	NUP205	7	135298930	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	34618957	135298930	23839733	34	29324											
OR2A14	135941	broad.mit.edu	37	chr7	143826799	143826799	+	Frame_Shift_Del	DEL	C	C	-													tggctcaaccaggtggtcatCtttgcagcctgcgtgttcat							TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:143826799delC	ENST00000408899.2	+	1	649	c.594delC	c.(592-594)atcfs	p.I198fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGTGGTCATCTTTGCAGCCT	0.577																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(592-594)atfs		olfactory receptor, family 2, subfamily A, member 14							157	163	161					7																	143826799		2026	4189	6215	SO:0001589	frameshift_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826799delC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.594delC	7.37:g.143826799delC	ENSP00000386137:p.Ile198fs						p.I198fs	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	649	+	Melanoma(164;0.0783)		198					Q6IF41|Q8NGT8	Frame_Shift_Del	DEL	ENST00000408899.2	37	c.594delC	CCDS43672.1																																																																																				0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			184	245						184	245	---	---	---	---	-	143826799	C	-	143826799	7	5	267	1	0	1	0	1	0	0	0	0	10976	903	32	0	596	0	OR2A14	7	143826799	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	8527869	143826799	15311864	35	29325											
SSPO	23145	broad.mit.edu	37	chr7	149493511	149493511	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgtatggactttcggccGcatggtgcaggcgaggtttg	16	9	0	0	rs569350279		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							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)			ACTTTCGGCCGCATGGTGCAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19119	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							98	113	108					7																	149493511		2143	4242	6385			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493511G>A	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.149493511G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6587	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	174	0	0	0	1	0	4	174					A	149493511	G	A	149493511	1	1	267	0	1	0	0	0	0	0	0	0	15188	1087	38	1		1	SSPO	7	149493511	RNA	SNP	G	TCGA-HT-7687-01A-11D-2253-08	5666712	149493511	9645152	36	29326											
MLL3	58508	broad.mit.edu	37	chr7	151970801	151970801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaacttacatctttcaggaGcttggtcaatgtgttctgga	9	7	4	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:151970801G>T	ENST00000262189.6	-	7	1219	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	KMT2C_ENST00000355193.2_Missense_Mutation_p.A334D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	334					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)										TCTTTCAGGAGCTTGGTCAAT	0.383																																						ENST00000355193.2																			0											c.(1000-1002)gCt>gAt		lysine (K)-specific methyltransferase 2C							236	219	225					7																	151970801		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970801G>T	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.1001C>A	7.37:g.151970801G>T	ENSP00000262189:p.Ala334Asp					KMT2C_ENST00000262189.6_Missense_Mutation_p.A334D	p.A334D							7	1219	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1001C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813298	0.70912	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85773	-2.02;-2.03	4.78	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43260	U	0.000588	D	0.91365	0.7276	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92390	0.5920	10	0.87932	D	0	.	18.1678	0.89734	0.0:0.0:1.0:0.0	.	334	Q8NEZ4	MLL3_HUMAN	D	334	ENSP00000262189:A334D;ENSP00000347325:A334D	ENSP00000262189:A334D	A	-	2	0	MLL3	151601734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.781000	0.99029	2.375000	0.81037	0.585000	0.79938	GCT		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	357	1	0	0.00198382	1	0.00204713	5	357					T	151970801	G	T	151970801	3	4	267	1	0	0	0	0	1	0	0	0	9622	971	34	4	13946	4	MLL3	7	151970801	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	2477290	151970801	7167862	37	29327											
TSTA3	7264	broad.mit.edu	37	chr8	144696860	144696860	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttgtggggaggcccaTtgtggatctgcgggcgtggg	20	7	1	0	rs199822261		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:144696860T>C	ENST00000425753.2	-	5	501	c.398A>G	c.(397-399)aAt>aGt	p.N133S	TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	133					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGAGGCCCATTGTGGATCTG	0.662																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(397-399)aAt>aGt		tissue specific transplantation antigen P35B	NADH(DB00157)						119	105	110					8																	144696860		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696860T>C	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.398A>G	8.37:g.144696860T>C	ENSP00000398803:p.Asn133Ser					TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S	p.N133S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	501	-	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)		133					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.398A>G	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	T	7.734	0.699825	0.15106	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	.	.	.	4.68	4.68	0.58851	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.152030	0.64402	D	0.000015	T	0.43523	0.1251	L	0.28649	0.875	0.43708	D	0.996177	B	0.20368	0.044	B	0.24974	0.057	T	0.36432	-0.9748	9	0.39692	T	0.17	-26.4949	7.8442	0.29417	0.0:0.095:0.0:0.905	.	133	Q13630	FCL_HUMAN	S	133	.	ENSP00000398803:N133S	N	-	2	0	TSTA3	144768003	0.502000	0.26107	0.946000	0.38457	0.195000	0.23768	1.122000	0.31295	1.748000	0.51833	0.383000	0.25322	AAT		0.662	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		3	128	0	0	0	1	0	3	128					C	144696860	T	C	144696860	3	2	267	1	0	0	0	0	1	0	0	0	16671	1493	52	3	595	3	TSTA3	8	144696860	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		144696860	1667162	38	29328											
SH3GL2	6456	broad.mit.edu	37	chr9	17795580	17795580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgctgccgagctctgtacGactttgaacctgaaaatgaa	9	11	1	3	rs139383722		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:17795580G>A	ENST00000380607.4	+	9	1018	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.D300N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGCTCTGTACGACTTTGAACC	0.463																																						ENST00000380607.4																			1	Substitution - Missense(1)	p.D300N(1)	skin(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(898-900)Gac>Aac		SH3-domain GRB2-like 2							97	92	93					9																	17795580		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17795580G>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.898G>A	9.37:g.17795580G>A	ENSP00000369981:p.Asp300Asn					SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N	p.D300N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	9	1018	+			300			SH3.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.898G>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664370	0.88251	.	.	ENSG00000107295	ENST00000541215;ENST00000380607;ENST00000537391	T;T	0.56776	0.44;0.44	5.7	4.81	0.61882	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);Variant SH3 (1);	0.276491	0.37715	N	0.001970	T	0.67192	0.2867	M	0.73217	2.22	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	T	0.70934	-0.4737	10	0.56958	D	0.05	.	14.7852	0.69796	0.0693:0.0:0.9307:0.0	.	300	Q99962	SH3G2_HUMAN	N	129;300;253	ENSP00000369981:D300N;ENSP00000443365:D253N	ENSP00000369981:D300N	D	+	1	0	SH3GL2	17785580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.937000	0.87672	1.419000	0.47118	0.561000	0.74099	GAC		0.463	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		25	36	0	0	0	1	0	25	36					A	17795580	G	A	17795580	3	1	267	1	0	0	0	0	1	0	0	0	14251	1058	37	1	932	1	SH3GL2	9	17795580	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		17795580	123417851	39	29329											
ROR2	4920	broad.mit.edu	37	chr9	94499693	94499693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgattcggttttcaatcTccccctgcatctgaagcgag	9	12	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:94499693T>C	ENST00000375708.3	-	5	800	c.602A>G	c.(601-603)gAg>gGg	p.E201G	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E61G	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	201	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTTTTCAATCTCCCCCTGCAT	0.537																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(601-603)gAg>gGg		receptor tyrosine kinase-like orphan receptor 2							160	124	136					9																	94499693		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94499693T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.602A>G	9.37:g.94499693T>C	ENSP00000364860:p.Glu201Gly					ROR2_ENST00000375715.1_Missense_Mutation_p.E61G|ROR2_ENST00000550066.1_5'UTR	p.E201G	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			5	800	-			201			FZ.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.602A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167459	0.78339	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.79033	-1.23;-1.23	4.42	4.42	0.53409	Frizzled domain (2);	0.000000	0.42548	D	0.000688	D	0.83216	0.5206	L	0.47716	1.5	0.80722	D	1	P;D;P	0.89917	0.933;1.0;0.943	P;D;P	0.83275	0.707;0.996;0.739	T	0.82078	-0.0635	10	0.34782	T	0.22	.	14.1308	0.65253	0.0:0.0:0.0:1.0	.	201;201;61	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	G	61;201	ENSP00000364867:E61G;ENSP00000364860:E201G	ENSP00000364860:E201G	E	-	2	0	ROR2	93539514	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	7.731000	0.84895	1.969000	0.57287	0.533000	0.62120	GAG		0.537	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			3	146	0	0	0	1	0	3	146					C	94499693	T	C	94499693	3	2	267	1	0	0	0	0	1	0	0	0	13527	1551	54	3	2249	3	ROR2	9	94499693	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	76704113	94499693	46713738	40	29330											
ECM2	1842	broad.mit.edu	37	chr9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctcctcctcctcatcCtcctcctcctcccttccttg	1	24	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:95277148C>A	ENST00000344604.5	-	4	968	c.819G>T	c.(817-819)gaG>gaT	p.E273D	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E251D	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				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						cctcctcatcctcctcctcct	0.607																																						ENST00000344604.5																			0				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						c.(817-819)gaG>gaT		extracellular matrix protein 2, female organ and adipocyte specific							233	178	197					9																	95277148		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277148C>A	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.819G>T	9.37:g.95277148C>A	ENSP00000344758:p.Glu273Asp					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E251D	p.E273D	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.819G>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150863	0.37923	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51071	0.72;0.74	4.31	-1.15	0.09709	.	0.388711	0.26424	N	0.024459	T	0.25606	0.0623	L	0.31926	0.97	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.09377	0.002;0.002;0.004	T	0.06862	-1.0803	10	0.31617	T	0.26	.	0.4051	0.00432	0.2638:0.2764:0.1301:0.3297	.	273;251;251	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	D	251;273	ENSP00000393971:E251D;ENSP00000344758:E273D	ENSP00000344758:E273D	E	-	3	2	ECM2	94316969	0.000000	0.05858	0.002000	0.10522	0.433000	0.31745	-0.835000	0.04386	-0.326000	0.08564	0.650000	0.86243	GAG		0.607	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		4	118	1	0	0.00024832	1	0.000259	4	118					A	95277148	C	A	95277148	3	1	267	1	0	0	0	0	1	0	0	0	4898	680	24	4	1308	4	ECM2	9	95277148	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	777455	95277148	45936283	41	29331											
PAPPA	5069	broad.mit.edu	37	chr9	118949845	118949845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacatggaaacccatggCgcccacactgctctacctca	7	16	3	1	rs115729347	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:118949845C>T	ENST00000328252.3	+	2	1197	c.828C>T	c.(826-828)ggC>ggT	p.G276G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	276	Metalloprotease.				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						AAACCCATGGCGCCCACACTG	0.572													C|||	15	0.00299521	0.0113	0.0	5008	,	,		19146	0.0		0.0	False		,,,				2504	0.0					ENST00000328252.3																			0				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						c.(826-828)ggC>ggT		pregnancy-associated plasma protein A, pappalysin 1		C		19,4387	27.2+/-55.0	0,19,2184	109	101	104		828	1.7	0.9	9	dbSNP_132	104	0,8600		0,0,4300	no	coding-synonymous	PAPPA	NM_002581.3		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		276/1628	118949845	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949845C>T		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.828C>T	9.37:g.118949845C>T							p.G276G	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1197	+			276			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.828C>T	CCDS6813.1																																																																																				0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	144	0	0	0	1	0	4	144					T	118949845	C	T	118949845	2	4	267	1	0	0	0	0	0	0	0	1	11432	755	27	1		1	PAPPA	9	118949845	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23672697	118949845	22263586	42	29332											
C9orf98	158067	broad.mit.edu	37	chr9	135730311	135730311	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagcgcgctgggaactGtctgaaggaaaaaggacaca	14	9	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135730311G>A	ENST00000298545.3	-	5	856	c.335C>T	c.(334-336)aCa>aTa	p.T112I	AK8_ENST00000477396.1_5'UTR|RNU6-357P_ENST00000515914.1_RNA	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	112	Adenylate kinase 1.|NMPbind 1. {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						GCTGGGAACTGTCTGAAGGAA	0.567																																						ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.e5-1		adenylate kinase 8							114	89	97					9																	135730311		2203	4300	6503	SO:0001630	splice_region_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135730311G>A	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.334-1C>T	9.37:g.135730311G>A						AK8_ENST00000477396.1_5'UTR	p.T112_splice	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			5	856	-			112					A8K821|Q8N9W9	Splice_Site	SNP	ENST00000298545.3	37	c.333_splice	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	G	4.766	0.142460	0.09083	.	.	ENSG00000165695	ENST00000298545	T	0.74632	-0.86	3.49	-6.99	0.01605	.	1.563310	0.04102	N	0.313039	T	0.53932	0.1827	N	0.25485	0.75	0.09310	N	1	B	0.13145	0.007	B	0.17979	0.02	T	0.35649	-0.9780	10	0.39692	T	0.17	-0.1219	0.6199	0.00776	0.2645:0.1993:0.1265:0.4097	.	112	Q96MA6	KAD8_HUMAN	I	112	ENSP00000298545:T112I	ENSP00000298545:T112I	T	-	2	0	AK8	134720132	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.427000	0.01026	-2.746000	0.00377	-0.424000	0.05967	ACA		0.567	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	Missense_Mutation	4	64	0	0	0	1	0	4	64					A	135730311	G	A	135730311	5	1	267	1	0	0	0	0	0	0	1	0	2509	1391	48	2	1140	2	C9orf98	9	135730311	Splice_Site	SNP	G	TCGA-HT-7687-01A-11D-2253-08	16780466	135730311	5483120	43	29333											
RALGDS	5900	broad.mit.edu	37	chr9	135979652	135979652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgggcactctcaccgTctccttcggccgtttctggg	12	15	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135979652T>C	ENST00000372050.3	-	10	1690	c.1669A>G	c.(1669-1671)Acg>Gcg	p.T557A	RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A|RALGDS_ENST00000393160.3_Missense_Mutation_p.T502A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	557	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		ACTCTCACCGTCTCCTTCGGC	0.657			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1504-1506)Acg>Gcg		ral guanine nucleotide dissociation stimulator							76	70	72					9																	135979652		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135979652T>C	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.1669A>G	9.37:g.135979652T>C	ENSP00000361120:p.Thr557Ala					RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A|RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.T557A|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A	p.T502A	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	10	1857	-			557			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1504A>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	T	0.043	-1.274960	0.01410	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.56	0.731	0.18277	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.503297	0.19029	N	0.124612	T	0.09818	0.0241	N	0.04787	-0.16	0.28203	N	0.927255	B;B;B;B;B;B;B;B	0.27416	0.0;0.009;0.178;0.018;0.002;0.074;0.074;0.044	B;B;B;B;B;B;B;B	0.20955	0.002;0.017;0.032;0.03;0.017;0.02;0.02;0.017	T	0.30327	-0.9982	10	0.08599	T	0.76	.	4.3035	0.10935	0.3466:0.0924:0.0:0.561	.	628;528;557;545;502;556;545;557	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	A	557;545;502;254;556;628;528;117	ENSP00000361120:T557A;ENSP00000361117:T545A;ENSP00000376867:T502A;ENSP00000376864:T556A;ENSP00000437518:T628A;ENSP00000361132:T528A;ENSP00000391814:T117A	ENSP00000361117:T545A	T	-	1	0	RALGDS	134969473	0.999000	0.42202	0.045000	0.18777	0.042000	0.13812	0.336000	0.19823	0.016000	0.14998	0.482000	0.46254	ACG		0.657	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		28	33	0	0	0	1	0	28	33					C	135979652	T	C	135979652	3	2	267	1	0	0	0	0	1	0	0	0	13016	1667	58	3	1111	3	RALGDS	9	135979652	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	249341	135979652	5233779	44	29334											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggctgcacccttggCggaaagaacacctgacacag	12	11	0	4	rs529585679		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:37430688C>T	ENST00000602533.1	+	7	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A232V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A232V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A232V(1)	large_intestine(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(694-696)gCg>gTg		ankyrin repeat domain 30A							34	35	35					10																	37430688		1876	4105	5981	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430688C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.695C>T	10.37:g.37430688C>T	ENSP00000473551:p.Ala232Val					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V	p.A232V			Q9BXX3	AN30A_HUMAN			7	794	+			288					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.695C>T		.	.	.	.	.	.	.	.	.	.	.	5.177	0.218204	0.09810	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06294	3.32;3.32	0.566	-1.13	0.09775	.	.	.	.	.	T	0.04497	0.0123	L	0.43152	1.355	0.09310	N	1	P	0.42993	0.797	B	0.37692	0.256	T	0.33599	-0.9862	8	0.23302	T	0.38	.	.	.	.	.	288	Q9BXX3	AN30A_HUMAN	V	232	ENSP00000354432:A232V;ENSP00000363792:A232V	ENSP00000354432:A232V	A	+	2	0	ANKRD30A	37470694	0.749000	0.28305	0.037000	0.18230	0.177000	0.22998	-1.289000	0.02780	-1.015000	0.03375	-0.749000	0.03505	GCG		0.483	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	68	0	0	0	1	0	5	68					T	37430688	C	T	37430688	3	4	267	1	0	0	0	0	1	0	0	0	658	768	27	1	721	1	ANKRD30A	10	37430688	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		37430688	98104059	45	29335											
GDF10	2662	broad.mit.edu	37	chr10	48426631	48426631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagaaccacattccgaTtctcatccaggaagaggacc	7	14	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:48426631T>C	ENST00000224605.2	-	3	1641	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	459					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACATTCCGATTCTCATCCAG	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1375-1377)aAt>aGt		growth differentiation factor 10							140	139	140					10																	48426631		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48426631T>C	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1376A>G	10.37:g.48426631T>C	ENSP00000224605:p.Asn459Ser		OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954		p.N459S	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			3	1641	-			459					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1376A>G	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	t	11.94	1.788836	0.31685	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.63255	-0.03	5.92	3.55	0.40652	Transforming growth factor-beta, C-terminal (3);	0.409339	0.32328	N	0.006252	T	0.40040	0.1101	N	0.16098	0.37	0.25631	N	0.986307	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.18745	-1.0327	10	0.21540	T	0.41	.	8.4586	0.32915	0.0:0.2124:0.0:0.7876	.	269;459	Q8N6T2;P55107	.;BMP3B_HUMAN	S	269;459	ENSP00000224605:N459S	ENSP00000224605:N459S	N	-	2	0	GDF10	48046637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.619000	0.36965	0.480000	0.27534	-0.266000	0.10368	AAT		0.582	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		9	203	0	0	0	1	0	9	203					C	48426631	T	C	48426631	3	2	267	1	0	0	0	0	1	0	0	0	6311	1493	52	3	64	3	GDF10	10	48426631	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	10995943	48426631	87108116	46	29336											
ERCC6	2074	broad.mit.edu	37	chr10	50667030	50667030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggccatcagtgtgggccTggaaagcgatgaagtttctc	13	10	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:50667030T>C	ENST00000355832.5	-	21	4391	c.4313A>G	c.(4312-4314)cAg>cGg	p.Q1438R	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1438					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						AGTGTGGGCCTGGAAAGCGAT	0.517								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				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						c.(4312-4314)cAg>cGg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							105	96	99					10																	50667030		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667030T>C	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.4313A>G	10.37:g.50667030T>C	ENSP00000348089:p.Gln1438Arg					ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R|RP11-123B3.2_ENST00000423283.1_RNA	p.Q1438R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			21	4391	-			1438					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4313A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.400787	0.42613	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83335	-1.71;-1.43	5.48	5.48	0.80851	.	.	.	.	.	T	0.75547	0.3864	M	0.68593	2.085	0.58432	D	0.999998	P;B	0.36599	0.56;0.128	B;B	0.31547	0.132;0.045	T	0.72481	-0.4280	9	0.05833	T	0.94	-21.0349	11.0062	0.47635	0.0:0.0729:0.0:0.9271	.	1438;815	Q03468;Q59FF6	ERCC6_HUMAN;.	R	1438;815;808	ENSP00000348089:Q1438R;ENSP00000445134:Q808R	ENSP00000348089:Q1438R	Q	-	2	0	ERCC6	50337036	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.657000	0.61490	2.207000	0.71202	0.460000	0.39030	CAG		0.517	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		3	118	0	0	0	1	0	3	118					C	50667030	T	C	50667030	3	2	267	1	0	0	0	0	1	0	0	0	5217	1580	55	3	172	3	ERCC6	10	50667030	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	2240399	50667030	84867717	47	29337											
VAX1	11023	broad.mit.edu	37	chr10	118896039	118896039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctctcgcggcccaccaCgtactggcagcgctggaact	12	16	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:118896039C>T	ENST00000369206.5	-	2	372	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	VAX1_ENST00000277905.2_Missense_Mutation_p.V125M	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	125					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCCCACCACGTACTGGCAG	0.667																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(373-375)Gtg>Atg		ventral anterior homeobox 1							38	38	38					10																	118896039		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118896039C>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.373G>A	10.37:g.118896039C>T	ENSP00000358207:p.Val125Met					VAX1_ENST00000369206.5_Missense_Mutation_p.V125M	p.V125M	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	617	-			125					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.373G>A	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478466	0.63849	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96265	-3.96;-3.96	3.88	3.88	0.44766	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.96182	0.8755	L	0.31526	0.94	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.71870	0.954;0.975	D	0.95912	0.8924	10	0.40728	T	0.16	-7.2586	16.0214	0.80499	0.0:1.0:0.0:0.0	.	125;125	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	M	125	ENSP00000277905:V125M;ENSP00000358207:V125M	ENSP00000277905:V125M	V	-	1	0	VAX1	118886029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.571000	0.67404	1.996000	0.58369	0.455000	0.32223	GTG		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		16	41	0	0	0	1	0	16	41					T	118896039	C	T	118896039	3	4	267	1	0	0	0	0	1	0	0	0	17131	536	19	1	779	1	VAX1	10	118896039	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	68229009	118896039	16638708	48	29338											
C11orf42	160298	broad.mit.edu	37	chr11	6231500	6231500	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcatctatgtcatctaccagGtcttctcttgttcctggctg	8	12	5	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:6231500G>C	ENST00000316375.2	+	2	543	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	165										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTACCAGGTCTTCTCTTG	0.587																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.(493-495)Gtc>Ctc		chromosome 11 open reading frame 42							104	106	105					11																	6231500		2201	4296	6497	SO:0001583	missense	160298							g.chr11:6231500G>C	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.493G>C	11.37:g.6231500G>C	ENSP00000321021:p.Val165Leu						p.V165L	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	543	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	165						Missense_Mutation	SNP	ENST00000316375.2	37	c.493G>C	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830524	0.32329	.	.	ENSG00000180878	ENST00000316375	T	0.55234	0.53	5.35	4.44	0.53790	.	0.000000	0.50627	D	0.000104	T	0.37237	0.0996	N	0.24115	0.695	0.30555	N	0.765105	P	0.35348	0.496	B	0.34242	0.178	T	0.47573	-0.9107	10	0.66056	D	0.02	-11.1753	9.9372	0.41559	0.0918:0.0:0.9082:0.0	.	165	Q8N5U0	CK042_HUMAN	L	165	ENSP00000321021:V165L	ENSP00000321021:V165L	V	+	1	0	C11orf42	6188076	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.416000	0.44644	1.491000	0.48482	0.585000	0.79938	GTC		0.587	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		11	156	0	0	0	1	0	11	156					C	6231500	G	C	6231500	3	2	267	1	0	0	0	0	1	0	0	0	1641	1261	44	4	499	4	C11orf42	11	6231500	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6231500	128775016	49	29339											
UEVLD	55293	broad.mit.edu	37	chr11	18568522	18568522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgctctgtaccacaTcaaggtacgactgagaacta	7	12	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:18568522T>A	ENST00000396197.3	-	8	819	c.791A>T	c.(790-792)gAt>gTt	p.D264V	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGTACCACATCAAGGTACGA	0.458																																						ENST00000396197.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(790-792)gAt>gTt		UEV and lactate/malate dehyrogenase domains							150	135	140					11																	18568522		2199	4293	6492	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18568522T>A	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.791A>T	11.37:g.18568522T>A	ENSP00000379500:p.Asp264Val					UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V	p.D264V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			8	819	-			264						Missense_Mutation	SNP	ENST00000396197.3	37	c.791A>T	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281171	0.59758	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.75	5.75	0.90469	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.145437	0.64402	D	0.000006	D	0.94453	0.8215	M	0.84585	2.705	0.80722	D	1	P;B;B;P	0.37781	0.608;0.442;0.027;0.608	P;B;B;P	0.48795	0.59;0.132;0.031;0.59	D	0.94700	0.7882	10	0.87932	D	0	-9.6078	10.4059	0.44256	0.0:0.0723:0.0:0.9277	.	242;242;264;264	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	V	264;226;264;242;242;41	ENSP00000442974:D264V;ENSP00000441092:D226V;ENSP00000379500:D264V;ENSP00000323353:D242V;ENSP00000368697:D242V	ENSP00000323353:D242V	D	-	2	0	UEVLD	18525098	1.000000	0.71417	0.898000	0.35279	0.935000	0.57460	2.604000	0.46274	2.201000	0.70794	0.533000	0.62120	GAT		0.458	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		10	99	0	0	0	1	0	10	99					A	18568522	T	A	18568522	3	1	267	1	0	0	0	0	1	0	0	0	16930	1435	50	5	644	5	UEVLD	11	18568522	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	12337022	18568522	116437994	50	29340											
OR4A16	81327	broad.mit.edu	37	chr11	55111416	55111416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcattgtggttgcccTcgtttttgttccctgtattt	7	11	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:55111416T>C	ENST00000314721.2	+	1	790	c.740T>C	c.(739-741)cTc>cCc	p.L247P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCCTCGTTTTTGTT	0.398																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(739-741)cTc>cCc		olfactory receptor, family 4, subfamily A, member 16							166	155	159					11																	55111416		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111416T>C	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.740T>C	11.37:g.55111416T>C	ENSP00000325128:p.Leu247Pro						p.L247P	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	790	+			247					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.740T>C	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	9.719	1.159246	0.21454	.	.	ENSG00000181961	ENST00000314721	T	0.00302	8.2	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.98295	4.195	0.20489	N	0.999897	D	0.89917	1.0	D	0.87578	0.998	T	0.23833	-1.0177	9	0.87932	D	0	.	9.1065	0.36701	0.0:0.0:0.0:1.0	.	247	Q8NH70	O4A16_HUMAN	P	247	ENSP00000325128:L247P	ENSP00000325128:L247P	L	+	2	0	OR4A16	54867992	0.023000	0.18921	0.665000	0.29768	0.241000	0.25554	2.238000	0.43070	1.312000	0.45043	0.346000	0.21813	CTC		0.398	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		16	41	0	0	0	1	0	16	41					C	55111416	T	C	55111416	3	2	267	1	0	0	0	0	1	0	0	0	11041	1551	54	3	742	3	OR4A16	11	55111416	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	36542894	55111416	79895100	51	29341											
SLC22A10	387775	broad.mit.edu	37	chr11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtttactgtgtactaCgcttcttggcaggtttttct	8	10	2	0	rs200183991		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:63064875C>T	ENST00000332793.6	+	3	609	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_ENST00000544661.1_Missense_Mutation_p.R48C|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	203						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTGTGTACTACGCTTCTTGGC	0.408																																						ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(142-144)Cgc>Tgc		solute carrier family 22, member 10		C	CYS/ARG	2,4092		0,2,2045	170	169	169		607	2.3	0.3	11		169	0,8428		0,0,4214	yes	missense	SLC22A10	NM_001039752.3	180	0,2,6259	TT,TC,CC		0.0,0.0489,0.016	probably-damaging	203/542	63064875	2,12520	2047	4214	6261	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63064875C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.607C>T	11.37:g.63064875C>T	ENSP00000327569:p.Arg203Cys					SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R203C	p.R48C			Q63ZE4	S22AA_HUMAN			4	570	+			203					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.142C>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306314	0.60305	4.89E-4	0.0	ENSG00000184999	ENST00000544661;ENST00000332793	D;D	0.90261	-2.64;-2.64	3.26	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.066213	0.64402	N	0.000009	D	0.93341	0.7877	M	0.92077	3.27	0.80722	D	1	P	0.50819	0.939	P	0.50352	0.638	D	0.92539	0.6040	10	0.72032	D	0.01	.	8.4548	0.32893	0.0:0.8776:0.0:0.1224	.	203	Q63ZE4	S22AA_HUMAN	C	48;203	ENSP00000445667:R48C;ENSP00000327569:R203C	ENSP00000327569:R203C	R	+	1	0	SLC22A10	62821451	0.772000	0.28567	0.265000	0.24526	0.132000	0.20833	1.238000	0.32707	0.751000	0.32900	0.447000	0.29281	CGC		0.408	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		4	130	0	0	0	1	0	4	130					T	63064875	C	T	63064875	3	4	267	1	0	0	0	0	1	0	0	0	14441	536	19	1	617	1	SLC22A10	11	63064875	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	7953459	63064875	71941641	52	29342											
DCN	1634	broad.mit.edu	37	chr12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcaagatgtaattccGtaagggaaggaggaagacct	12	7	1	2	rs144174426		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:91546948G>A	ENST00000052754.5	-	6	1172	c.671C>T	c.(670-672)aCg>aTg	p.T224M	DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T224M	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	224					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.T224M(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGTAATTCCGTAAGGGAAGG	0.348																																						ENST00000052754.5																			1	Substitution - Missense(1)	p.T224M(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(670-672)aCg>aTg		decorin		G	MET/THR,MET/THR,MET/THR,MET/THR,,	0,4406		0,0,2203	124	118	120		671,671,344,230,,	3.4	0.9	12	dbSNP_134	120	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,intron,intron	DCN	NM_001920.3,NM_133503.2,NM_133504.2,NM_133505.2,NM_133506.2,NM_133507.2	81,81,81,81,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	224/360,224/360,115/251,77/213,,	91546948	3,13003	2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91546948G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.671C>T	12.37:g.91546948G>A	ENSP00000052754:p.Thr224Met					DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T224M|DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M	p.T224M	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			6	1172	-			224					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.671C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881672	0.51908	0.0	3.49E-4	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.33	3.44	0.39384	.	0.219992	0.47455	D	0.000223	T	0.70806	0.3266	M	0.62016	1.91	0.46028	D	0.998829	D;D;D	0.89917	0.993;0.998;1.0	P;D;D	0.66716	0.709;0.933;0.946	T	0.68914	-0.5283	10	0.33940	T	0.23	.	15.7442	0.77926	0.0:0.2576:0.7424:0.0	.	224;77;115	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	M	224;115;224;77;224;115;77;77	ENSP00000052754:T224M;ENSP00000228329:T115M;ENSP00000376862:T224M;ENSP00000401021:T77M;ENSP00000447654:T224M;ENSP00000413723:T115M;ENSP00000447674:T77M;ENSP00000446530:T77M	ENSP00000052754:T224M	T	-	2	0	DCN	90071079	1.000000	0.71417	0.939000	0.37840	0.920000	0.55202	4.746000	0.62133	0.580000	0.29522	0.591000	0.81541	ACG		0.348	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		7	122	0	0	0	1	0	7	122					A	91546948	G	A	91546948	3	1	267	1	0	0	0	0	1	0	0	0	4297	1145	40	1	420	1	DCN	12	91546948	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		91546948	42304947	53	29343											
MYO1H	283446	broad.mit.edu	37	chr12	109835562	109835562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaatgccagaacgctccGgaatgacaactccagcagat	10	11	0	3	rs201793413		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:109835562G>A	ENST00000431443.2	+	4	467	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MYO1H_ENST00000310903.5_Missense_Mutation_p.R156Q	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	156	Myosin motor.					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						AGAACGCTCCGGAATGACAAC	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18864	0.0		0.0	False		,,,				2504	0.0					ENST00000310903.5																			0				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						c.(466-468)cGg>cAg		myosin IH		G	GLN/ARG	1,3797		0,1,1898	75	73	73		467	4.9	1	12		73	1,8331		0,1,4165	yes	missense	MYO1H	NM_001101421.3	43	0,2,6063	AA,AG,GG		0.012,0.0263,0.0165	probably-damaging	156/1023	109835562	2,12128	1899	4166	6065	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109835562G>A		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.467G>A	12.37:g.109835562G>A	ENSP00000444076:p.Arg156Gln					MYO1H_ENST00000431443.2_Missense_Mutation_p.R156Q	p.R156Q			B4DNW6	B4DNW6_HUMAN			5	573	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.875340	0.91664	2.63E-4	1.2E-4	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.88664	-2.41;-2.41	4.92	4.92	0.64577	.	.	.	.	.	D	0.93828	0.8026	H	0.96269	3.795	0.38284	D	0.9425	D	0.57899	0.981	P	0.46253	0.509	D	0.96914	0.9669	9	0.87932	D	0	.	17.5061	0.87746	0.0:0.0:1.0:0.0	.	156	F5H3C6	.	Q	156	ENSP00000439182:R156Q;ENSP00000444076:R156Q	ENSP00000439182:R156Q	R	+	2	0	MYO1H	108319945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.497000	0.81536	2.445000	0.82738	0.650000	0.86243	CGG		0.408	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		3	40	0	0	0	1	0	3	40					A	109835562	G	A	109835562	3	1	267	1	0	0	0	0	1	0	0	0	10075	1116	39	1	481	1	MYO1H	12	109835562	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	18288614	109835562	24016333	54	29344											
CUX2	23316	broad.mit.edu	37	chr12	111729277	111729277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacagactgcagcccccCagctttgaccccagtgggca	11	16	0	2	rs372694667		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:111729277C>T	ENST00000261726.6	+	5	511	c.357C>T	c.(355-357)ccC>ccT	p.P119P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	119					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCAGCCCCCCAGCTTTGACC	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(355-357)ccC>ccT		cut-like homeobox 2							50	56	54					12																	111729277		1958	4145	6103	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729277C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.357C>T	12.37:g.111729277C>T							p.P119P	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			5	511	+			119					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.357C>T	CCDS41837.1																																																																																				0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	108	0	0	0	1	0	8	108					T	111729277	C	T	111729277	2	4	267	1	0	0	0	0	0	0	0	1	4065	581	21	2		2	CUX2	12	111729277	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	1893715	111729277	22122618	55	29345											
PRKD1	5587	broad.mit.edu	37	chr14	30105555	30105555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcatctcgccactgtcGttctggcactctgccattgc	8	15	4	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:30105555G>A	ENST00000331968.5	-	7	1360	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	PRKD1_ENST00000415220.2_Silent_p.N385N|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	377					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)		CGCCACTGTCGTTCTGGCACT	0.542																																						ENST00000331968.5																			0				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						c.(1129-1131)aaC>aaT		protein kinase D1							380	283	316					14																	30105555		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105555G>A		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.1131C>T	14.37:g.30105555G>A						PRKD1_ENST00000415220.2_Silent_p.N385N	p.N377N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1360	-	Hepatocellular(127;0.0604)		377					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1131C>T	CCDS9637.1																																																																																				0.542	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		97	173	0	0	0	1	0	97	173					A	30105555	G	A	30105555	2	1	267	1	0	0	0	0	0	0	0	1	12518	1136	40	1		1	PRKD1	14	30105555	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		30105555	77243985	56	29346											
CLEC14A	161198	broad.mit.edu	37	chr14	38724727	38724727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacttgcacaggtagccGttggcgcgcaggtggcatcg	16	10	0	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:38724727G>A	ENST00000342213.2	-	1	847	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N167N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682																																						ENST00000342213.2																			1	Substitution - coding silent(1)	p.N167N(1)	endometrium(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(499-501)aaC>aaT		C-type lectin domain family 14, member A							44	39	41					14																	38724727		2199	4290	6489	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724727G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.501C>T	14.37:g.38724727G>A							p.N167N	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	847	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		167			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.501C>T	CCDS9667.1																																																																																				0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		4	74	0	0	0	1	0	4	74					A	38724727	G	A	38724727	2	1	267	1	0	0	0	0	0	0	0	1	3499	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	8619172	38724727	68624813	57	29347											
NEO1	4756	broad.mit.edu	37	chr15	73541990	73541990	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatacagagtatagtttcCgagtggtggcctacaataaa	9	6	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:73541990C>T	ENST00000339362.5	+	12	2269	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*			Q92859	NEO1_HUMAN	neogenin 1	608	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GTATAGTTTCCGAGTGGTGGC	0.378																																						ENST00000339362.5																			0				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						c.(1822-1824)Cga>Tga		neogenin 1							148	138	141					15																	73541990		2198	4297	6495	SO:0001587	stop_gained	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541990C>T	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.1822C>T	15.37:g.73541990C>T	ENSP00000341198:p.Arg608*					NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608*	p.R608*			Q92859	NEO1_HUMAN			12	2269	+			608			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	ENST00000339362.5	37	c.1822C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	38	7.057674	0.98032	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.207	14.4834	0.67599	0.147:0.853:0.0:0.0	.	.	.	.	X	608;346;608	.	ENSP00000261908:R608X	R	+	1	2	NEO1	71329043	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.506000	0.60428	2.722000	0.93159	0.655000	0.94253	CGA		0.378	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	117	0	0	0	1	0	4	117					T	73541990	C	T	73541990	4	4	267	1	0	0	0	0	0	1	0	0	10336	644	23	1	1864	1	NEO1	15	73541990	Nonsense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		73541990	28989402	58	29348											
NAGPA	51172	broad.mit.edu	37	chr16	5081777	5081777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgtcacactctgtggcTtggctctcgttgatgtagat	11	10	4	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:5081777T>C	ENST00000312251.3	-	3	670	c.651A>G	c.(649-651)caA>caG	p.Q217Q	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.Q217Q	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	217					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTCTGTGGCTTGGCTCTCGT	0.572																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(649-651)caA>caG		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						241	210	220					16																	5081777		2197	4300	6497	SO:0001819	synonymous_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5081777T>C	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.651A>G	16.37:g.5081777T>C						NAGPA_ENST00000381955.3_Silent_p.Q217Q|RP11-165E7.1_ENST00000588778.1_RNA	p.Q217Q	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			3	670	-			217					B2RAS1|Q96EJ8	Silent	SNP	ENST00000312251.3	37	c.651A>G	CCDS10527.1																																																																																				0.572	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		147	222	0	0	0	1	0	147	222					C	5081777	T	C	5081777	2	2	267	1	0	0	0	0	0	0	0	1	10144	1606	56	3		3	NAGPA	16	5081777	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		5081777	85272976	59	29349											
PDP2	57546	broad.mit.edu	37	chr16	66919576	66919576	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaggaaagccagcgggctCcacgaggctgaccaaaatgc	13	12	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:66919576C>T	ENST00000311765.2	+	2	1723	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	463					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)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGCGGGCTCCACGAGGCTG	0.617																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(1387-1389)ctC>ctT		pyruvate dehyrogenase phosphatase catalytic subunit 2							32	32	32					16																	66919576		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919576C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1389C>T	16.37:g.66919576C>T						PDP2_ENST00000568720.1_Intron	p.L463L	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1723	+		Ovarian(137;0.0563)	463					A8K924	Silent	SNP	ENST00000311765.2	37	c.1389C>T	CCDS10822.1																																																																																				0.617	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		9	10	0	0	0	1	0	9	10					T	66919576	C	T	66919576	2	4	267	1	0	0	0	0	0	0	0	1	11686	842	30	2		2	PDP2	16	66919576	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	61837799	66919576	23435177	60	29350											
PKD1L2	114780	broad.mit.edu	37	chr16	81161555	81161555	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccagggaatatggtgcacGgcatccgttgagatatgcct	12	9	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:81161555G>T	ENST00000534142.1	-	0	548				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATGGTGCACGGCATCCGTTG	0.567																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							60	58	59					16																	81161555		2011	4183	6194			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161555G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161555G>T						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	4215	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.567	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			3	44	1	0	0.00909568	1	0.00928717	3	44					T	81161555	G	T	81161555	1	4	267	0	1	0	0	0	0	0	0	0	11965	1116	39	4		4	PKD1L2	16	81161555	RNA	SNP	G	TCGA-HT-7687-01A-11D-2253-08	14241979	81161555	9193198	61	29351											
MINK1	50488	broad.mit.edu	37	chr17	4797498	4797498	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcggaacctgctgcaTgctgacagcaatgggtacac	14	10	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:4797498T>C	ENST00000355280.6	+	23	2896	c.2700T>C	c.(2698-2700)caT>caC	p.H900H	MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTGCTGCATGCTGACAGCA	0.622																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2698-2700)caT>caC		misshapen-like kinase 1							91	101	98					17																	4797498		2167	4262	6429	SO:0001819	synonymous_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4797498T>C	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2700T>C	17.37:g.4797498T>C						MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H	p.H900H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			23	2896	+			900			Mediates interaction with RAP2A.			Silent	SNP	ENST00000355280.6	37	c.2700T>C	CCDS45588.1																																																																																				0.622	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		40	99	0	0	0	1	0	40	99					C	4797498	T	C	4797498	2	2	267	1	0	0	0	0	0	0	0	1	9587	1461	51	3		3	MINK1	17	4797498	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		4797498	76397712	62	29352											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-													tcaagagttctcccaaacttAcagacaatgttttcccagat							TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Intron|DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e4+1		DEAD (Asp-Glu-Ala-Asp) box helicase 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.L149_splice	p.L149_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	841_843	-	Breast(5;2.15e-14)		149			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	118	248						118	248	---	---	---	---	-	62500102	ACAG	-	62500099	8	5	267	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-HT-7687-01A-11D-2253-08	57702601	62500099	18695111	63	29353											
MYOM1	8736	broad.mit.edu	37	chr18	3135615	3135615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcagaattagaacaGcggacacggaaacagtagga	11	9	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:3135615G>A	ENST00000356443.4	-	15	2472	c.2139C>T	c.(2137-2139)cgC>cgT	p.R713R	MYOM1_ENST00000400569.3_Silent_p.R713R|MYOM1_ENST00000261606.7_Silent_p.R713R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTAGAACAGCGGACACGGA	0.512																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2137-2139)cgC>cgT		myomesin 1							46	49	48					18																	3135615		1941	4138	6079	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3135615G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2139C>T	18.37:g.3135615G>A						MYOM1_ENST00000261606.7_Silent_p.R713R|MYOM1_ENST00000400569.3_Silent_p.R713R	p.R713R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			15	2472	-			713			Fibronectin type-III 2.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2139C>T	CCDS45824.1																																																																																				0.512	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		3	52	0	0	0	1	0	3	52					A	3135615	G	A	3135615	2	1	267	1	0	0	0	0	0	0	0	1	10091	958	34	2		2	MYOM1	18	3135615	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3135615	74941633	64	29354											
AQP4	361	broad.mit.edu	37	chr18	24442317	24442317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggttgatgtggccaccGctgatatggccaaagcactg	14	10	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:24442317G>A	ENST00000383168.4	-	2	404	c.276C>T	c.(274-276)agC>agT	p.S92S	AQP4_ENST00000583022.1_5'Flank|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000568797.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	92					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGTGGCCACCGCTGATATGGC	0.557																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(274-276)agC>agT		aquaporin 4							125	106	113					18																	24442317		2203	4300	6503	SO:0001819	synonymous_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24442317G>A	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.276C>T	18.37:g.24442317G>A						AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S	p.S92S	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			2	404	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		92					P78564	Silent	SNP	ENST00000383168.4	37	c.276C>T	CCDS11889.1																																																																																				0.557	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		5	130	0	0	0	1	0	5	130					A	24442317	G	A	24442317	2	1	267	1	0	0	0	0	0	0	0	1	828	1078	38	1		1	AQP4	18	24442317	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	21306702	24442317	53634931	65	29355											
FAM59A	64762	broad.mit.edu	37	chr18	29848207	29848207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgacccagacttggggtctTcctcagcaccatcaattttc	8	13	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:29848207T>C	ENST00000269209.6	-	6	2261	c.2258A>G	c.(2257-2259)gAa>gGa	p.E753G	GAREM_ENST00000399218.4_Missense_Mutation_p.E752G			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	753					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CTTGGGGTCTTCCTCAGCACC	0.522																																						ENST00000399218.4																			0											c.(2254-2256)gAa>gGa		GRB2 associated, regulator of MAPK1							76	75	75					18																	29848207		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29848207T>C	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2258A>G	18.37:g.29848207T>C	ENSP00000269209:p.Glu753Gly					GAREM_ENST00000269209.6_Missense_Mutation_p.E753G	p.E752G	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2310	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.2255A>G	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424618	0.25639	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.32	5.32	0.75619	.	0.360549	0.33023	N	0.005366	T	0.10766	0.0263	N	0.08118	0	0.42745	D	0.993758	B;B	0.17268	0.002;0.021	B;B	0.15484	0.004;0.013	T	0.11131	-1.0600	10	0.48119	T	0.1	-18.2788	15.3194	0.74109	0.0:0.0:0.0:1.0	.	753;752	Q9H706;Q9H706-3	FA59A_HUMAN;.	G	752;753	ENSP00000382165:E752G;ENSP00000269209:E753G	ENSP00000269209:E753G	E	-	2	0	FAM59A	28102205	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.437000	0.34991	2.011000	0.59026	0.529000	0.55759	GAA		0.522	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		38	48	0	0	0	1	0	38	48					C	29848207	T	C	29848207	3	2	267	1	0	0	0	0	1	0	0	0	5592	1783	62	3	376	3	FAM59A	18	29848207	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	5405890	29848207	48229041	66	29356											
TNFSF14	8740	broad.mit.edu	37	chr19	6670062	6670062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacaaacactgagggccGtacgacactctcctccatgc	7	17	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:6670062G>A	ENST00000599359.1	-	2	400	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W|TNFSF14_ENST00000326176.9_Missense_Mutation_p.R7W			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	7					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACTGAGGGCCGTACGACACTC	0.602																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(19-21)Cgg>Tgg		tumor necrosis factor (ligand) superfamily, member 14							105	80	88					19																	6670062		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6670062G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.19C>T	19.37:g.6670062G>A	ENSP00000469049:p.Arg7Trp					TNFSF14_ENST00000599359.1_Missense_Mutation_p.R7W|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W	p.R7W	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			2	400	-			7					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.19C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.085940	0.55861	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T;T	0.36157	1.27;1.27	5.04	1.5	0.22942	.	2.013580	0.02837	N	0.127495	T	0.51278	0.1665	L	0.57536	1.79	0.09310	N	1	D;D	0.65815	0.991;0.995	P;P	0.53861	0.549;0.736	T	0.42682	-0.9437	10	0.59425	D	0.04	-2.3783	11.0599	0.47942	0.0:0.0:0.4536:0.5464	.	7;7	O43557;O43557-2	TNF14_HUMAN;.	W	7	ENSP00000245912:R7W;ENSP00000326940:R7W	ENSP00000245912:R7W	R	-	1	2	TNFSF14	6621062	0.001000	0.12720	0.010000	0.14722	0.022000	0.10575	0.737000	0.26144	0.160000	0.19432	0.563000	0.77884	CGG		0.602	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			4	89	0	0	0	1	0	4	89					A	6670062	G	A	6670062	3	1	267	1	0	0	0	0	1	0	0	0	16304	1144	40	1	719	1	TNFSF14	19	6670062	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6670062	52458921	67	29357											
LPHN1	22859	broad.mit.edu	37	chr19	14271032	14271032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcacagaggaggagacGtcccccgcgtagatggagcc	14	12	1	3	rs150872915		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:14271032G>A	ENST00000340736.6	-	9	2004	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	569					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGGAGACGTCCCCCGCGT	0.662																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1705-1707)gaC>gaT		latrophilin 1		G	,	1,4405	2.1+/-5.4	0,1,2202	50	61	57		1707,1692	-10.5	0.1	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPHN1	NM_001008701.2,NM_014921.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	569/1475,564/1470	14271032	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14271032G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1707C>T	19.37:g.14271032G>A						LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.D569D	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			9	2004	-			569					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.1707C>T	CCDS32928.1																																																																																				0.662	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		4	134	0	0	0	1	0	4	134					A	14271032	G	A	14271032	2	1	267	1	0	0	0	0	0	0	0	1	8915	1136	40	1		1	LPHN1	19	14271032	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7600970	14271032	44857951	68	29358											
LRRC4B	94030	broad.mit.edu	37	chr19	51022537	51022537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaccgtggtcagccGgttgtcaaaaagctccagcg	14	12	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:51022537G>A	ENST00000599957.1	-	3	630	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	145					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)		GTGGTCAGCCGGTTGTCAAAA	0.622																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(433-435)Cgg>Tgg		leucine rich repeat containing 4B							52	57	55					19																	51022537		2200	4298	6498	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022537G>A	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.433C>T	19.37:g.51022537G>A	ENSP00000471502:p.Arg145Trp					LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W	p.R145W			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	630	-		all_neural(266;0.131)	145					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.433C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645346	0.47258	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.91631	-2.88	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000011	D	0.94440	0.8211	M	0.85777	2.775	0.52501	D	0.999959	D	0.62365	0.991	P	0.53649	0.731	D	0.94339	0.7569	10	0.45353	T	0.12	.	13.9104	0.63864	0.0:0.0:1.0:0.0	.	145	Q9NT99	LRC4B_HUMAN	W	145	ENSP00000373853:R145W	ENSP00000373853:R145W	R	-	1	2	LRRC4B	55714349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.902000	0.56310	2.235000	0.73313	0.491000	0.48974	CGG		0.622	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		46	25	0	0	0	1	0	46	25					A	51022537	G	A	51022537	3	1	267	1	0	0	0	0	1	0	0	0	9007	1115	39	1	1712	1	LRRC4B	19	51022537	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	36751505	51022537	8106446	69	29359											
DEFB119	245932	broad.mit.edu	37	chr20	29976970	29976970	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtttacgatttcggcagCgtatgatgctgtcttcacca	9	11	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29976970C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.R42H	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTCGGCAGCGTATGATGCT	0.453																																						ENST00000376315.2																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(124-126)cGc>cAc		defensin, beta 119							214	182	193					20																	29976970		2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976970C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1255G>A	20.37:g.29976970C>T						DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron	p.R42H	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	124	-	all_hematologic(12;0.158)		48					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.125G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208032	0.95033	.	.	ENSG00000180483	ENST00000376315	T	0.11385	2.78	3.71	3.71	0.42584	.	1.313780	0.05190	N	0.502908	T	0.32071	0.0817	.	.	.	0.25537	N	0.987212	D	0.89917	1.0	D	0.71870	0.975	T	0.17107	-1.0380	9	0.87932	D	0	-17.3563	11.2726	0.49148	0.0:1.0:0.0:0.0	.	42	Q8N690-2	.	H	42	ENSP00000365492:R42H	ENSP00000365492:R42H	R	-	2	0	DEFB119	29440631	0.394000	0.25246	0.799000	0.32177	0.909000	0.53808	0.854000	0.27791	2.377000	0.81083	0.563000	0.77884	CGC		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		13	177	0	0	0	1	0	13	177					T	29976970	C	T	29976970	1	4	267	0	1	0	0	0	0	0	0	0	4407	768	27	1		1	DEFB119	20	29976970	Intron	SNP	C	TCGA-HT-7687-01A-11D-2253-08		29976970	33048550	70	29360											
FAM83D	81610	broad.mit.edu	37	chr20	37580213	37580213	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatggcaaattaaacagcAgtaacttggtaattctgtct	9	7	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:37580213A>C	ENST00000217429.4	+	4	939	c.898A>C	c.(898-900)Agt>Cgt	p.S300R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	270					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTAAACAGCAGTAACTTGGT	0.428																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(898-900)Agt>Cgt		family with sequence similarity 83, member D							104	99	101					20																	37580213		1913	4121	6034	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580213A>C	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.898A>C	20.37:g.37580213A>C	ENSP00000217429:p.Ser300Arg						p.S300R	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	939	+		Myeloproliferative disorder(115;0.00878)	270					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.898A>C	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824959	0.90955	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.13901	2.55	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42932	-0.9422	10	0.87932	D	0	.	16.0893	0.81082	1.0:0.0:0.0:0.0	.	270	Q9H4H8	FA83D_HUMAN	R	300;254	ENSP00000217429:S300R	ENSP00000217429:S300R	S	+	1	0	FAM83D	37013627	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.021000	0.76425	2.279000	0.76181	0.533000	0.62120	AGT		0.428	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			4	75	0	0	0	1	0	4	75					C	37580213	A	C	37580213	3	2	267	1	0	0	0	0	1	0	0	0	5636	188	7	5	912	5	FAM83D	20	37580213	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	7603243	37580213	25445307	71	29361											
CSTF1	1477	broad.mit.edu	37	chr20	54974333	54974333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattttttccaaaaattctaAatacattctctcaagtggaa	3	8	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:54974333A>G	ENST00000217109.4	+	5	1308	c.956A>G	c.(955-957)aAa>aGa	p.K319R	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	319					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 processing (GO:0006396)|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)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAAAATTCTAAATACATTCTC	0.388																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(955-957)aAa>aGa		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							104	101	102					20																	54974333		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54974333A>G		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.956A>G	20.37:g.54974333A>G	ENSP00000217109:p.Lys319Arg					CSTF1_ENST00000493039.1_3'UTR	p.K319R	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		5	1308	+			319					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.956A>G	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122632	0.77436	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000425890;ENST00000452950	T;T;T	0.81247	-1.47;-1.47;-1.47	5.93	5.93	0.95920	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	0.78007	0.4216	L	0.56769	1.78	0.80722	D	1	B	0.29716	0.255	B	0.27796	0.083	T	0.74976	-0.3480	10	0.34782	T	0.22	-12.3028	16.3943	0.83563	1.0:0.0:0.0:0.0	.	319	Q05048	CSTF1_HUMAN	R	319;319;306;319	ENSP00000387968:K319R;ENSP00000217109:K319R;ENSP00000409035:K319R	ENSP00000217109:K319R	K	+	2	0	CSTF1	54407740	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.143000	0.94623	2.281000	0.76405	0.533000	0.62120	AAA		0.388	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		6	84	0	0	0	1	0	6	84					G	54974333	A	G	54974333	3	3	267	1	0	0	0	0	1	0	0	0	3983	14	1	3	970	3	CSTF1	20	54974333	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	17394120	54974333	8051187	72	29362											
TIAM1	7074	broad.mit.edu	37	chr21	32589897	32589897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggccgtccctgcttcTttttggaggtagtatccaga	11	10	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:32589897T>C	ENST00000286827.3	-	10	2585	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	705					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						TCCCTGCTTCTTTTTGGAGGT	0.522																																						ENST00000286827.3																			0				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						c.(2113-2115)aAg>aGg		T-cell lymphoma invasion and metastasis 1							185	165	172					21																	32589897		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589897T>C		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.2114A>G	21.37:g.32589897T>C	ENSP00000286827:p.Lys705Arg					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R	p.K705R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2585	-			705					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2114A>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145706	0.57044	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.42131	0.98;0.98	5.41	5.41	0.78517	.	0.213846	0.47852	D	0.000209	T	0.46308	0.1386	N	0.14661	0.345	0.58432	D	0.999997	B;D;B;D	0.69078	0.025;0.997;0.034;0.997	B;D;B;D	0.75020	0.022;0.985;0.012;0.985	T	0.42682	-0.9437	10	0.27785	T	0.31	.	15.6039	0.76646	0.0:0.0:0.0:1.0	.	705;705;546;705	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	R	705;546;705	ENSP00000286827:K705R;ENSP00000441570:K705R	ENSP00000286827:K705R	K	-	2	0	TIAM1	31511768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.261000	0.74972	0.533000	0.62120	AAG		0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		84	91	0	0	0	1	0	84	91					C	32589897	T	C	32589897	3	2	267	1	0	0	0	0	1	0	0	0	15887	1609	56	3	2741	3	TIAM1	21	32589897	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		32589897	15539998	73	29363											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032410	46032410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccaactgctgcaagccCgtgtgctgcgtgtccatctg	11	13	1	0	rs587687321		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:46032410C>T	ENST00000334662.2	+	1	415	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	131	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						GCTGCAAGCCCGTGTGCTGCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20954	0.0		0.0	False		,,,				2504	0.001					ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(391-393)ccC>ccT		keratin associated protein 10-8							169	134	146					21																	46032410		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032410C>T	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.393C>T	21.37:g.46032410C>T						TSPEAR_ENST00000323084.4_Intron	p.P131P	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	415	+			131			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.393C>T	CCDS13713.1																																																																																				0.632	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		6	272	0	0	0	1	0	6	272					T	46032410	C	T	46032410	2	4	267	1	0	0	0	0	0	0	0	1	8515	639	23	1		1	KRTAP10-8	21	46032410	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13442513	46032410	2097485	74	29364											
CDKL5	6792	broad.mit.edu	37	chrX	18646678	18646678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccggcaggaacccgcacCgaagggcaggccagccctcc	12	18	0	0	rs587783157		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:18646678C>A	ENST00000379989.3	+	19	2969	c.2684C>A	c.(2683-2685)cCg>cAg	p.P895Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	895					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)					GAACCCGCACCGAAGGGCAGG	0.577																																						ENST00000379989.3																			0				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						c.(2683-2685)cCg>cAg		cyclin-dependent kinase-like 5							52	52	52					X																	18646678		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646678C>A	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.2684C>A	X.37:g.18646678C>A	ENSP00000369325:p.Pro895Gln					CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q	p.P895Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			19	2969	+	Hepatocellular(33;0.183)		895					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2684C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304676	0.23736	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.72167	-0.63;-0.63	5.8	5.8	0.92144	.	0.108538	0.64402	D	0.000006	T	0.75693	0.3884	L	0.32530	0.975	0.46586	D	0.99911	D	0.61080	0.989	P	0.58013	0.831	T	0.78342	-0.2241	10	0.87932	D	0	-7.7295	18.9959	0.92812	0.0:1.0:0.0:0.0	.	895	O76039	CDKL5_HUMAN	Q	895	ENSP00000369332:P895Q;ENSP00000369325:P895Q	ENSP00000369325:P895Q	P	+	2	0	CDKL5	18556599	0.725000	0.28048	0.887000	0.34795	0.126000	0.20510	5.353000	0.66034	2.434000	0.82447	0.600000	0.82982	CCG		0.577	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		3	64	1	0	1	1	1	3	64					A	18646678	C	A	18646678	3	1	267	1	0	0	0	0	1	0	0	0	3157	652	23	4	2750	4	CDKL5	23	18646678	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		18646678	136623882	75	29365											
IL13RA1	3597	broad.mit.edu	37	chrX	117900529	117900529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaatccagaatttgagAgaaatgtggaggtcagtaaa	13	3	1	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:117900529A>G	ENST00000371666.3	+	7	932	c.865A>G	c.(865-867)Aga>Gga	p.R289G	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	289	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						AGAATTTGAGAGAAATGTGGA	0.338																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(865-867)Aga>Gga		interleukin 13 receptor, alpha 1							94	89	90					X																	117900529		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117900529A>G	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.865A>G	X.37:g.117900529A>G	ENSP00000360730:p.Arg289Gly					IL13RA1_ENST00000481868.1_3'UTR	p.R289G	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			7	932	+			289					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.865A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	2.627	-0.287240	0.05605	.	.	ENSG00000131724	ENST00000371666	D	0.89939	-2.59	4.16	3.18	0.36537	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.221100	0.05659	N	0.586519	T	0.79423	0.4443	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62623	-0.6815	10	0.15499	T	0.54	0.0203	3.1441	0.06466	0.3727:0.0:0.6273:0.0	.	289;289	Q5JSL4;P78552	.;I13R1_HUMAN	G	289	ENSP00000360730:R289G	ENSP00000360730:R289G	R	+	1	2	IL13RA1	117784557	1.000000	0.71417	0.239000	0.24122	0.568000	0.35870	1.286000	0.33273	0.570000	0.29347	0.412000	0.27726	AGA		0.338	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		5	55	0	0	0	1	0	5	55					G	117900529	A	G	117900529	3	3	267	1	0	0	0	0	1	0	0	0	7629	296	11	3	891	3	IL13RA1	23	117900529	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	99253851	117900529	37370031	76	29366											
PRAMEF11	440560	broad.mit.edu	37	chr1	12885051	12885051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcaggttctccagggTggccatgcagatgggatttc	14	10	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:12885051T>C	ENST00000535591.1	-	4	1255	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	354					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(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTCCAGGGTGGCCATGCAG	0.532																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1060-1062)Acc>Gcc		PRAME family member 11							34	29	31					1																	12885051		692	1588	2280	SO:0001583	missense	440560							g.chr1:12885051T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1060A>G	1.37:g.12885051T>C	ENSP00000439551:p.Thr354Ala						p.T354A	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1255	-			354						Missense_Mutation	SNP	ENST00000535591.1	37	c.1060A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.035765	0.00406	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.08634	3.07;3.07	1.52	-0.681	0.11342	.	2.132850	0.01994	N	0.045767	T	0.02571	0.0078	N	0.01505	-0.83	0.09310	N	1	B	0.21753	0.06	B	0.17433	0.018	T	0.35748	-0.9776	10	0.02654	T	1	.	4.1238	0.10118	0.0:0.5567:0.0:0.4433	.	354	O60813	PRA11_HUMAN	A	354;395;354	ENSP00000439551:T354A;ENSP00000391839:T354A	ENSP00000328783:T395A	T	-	1	0	PRAMEF11	12807638	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.493000	0.06459	-0.190000	0.10465	-0.534000	0.04291	ACC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		12	163	0	0	0	1	0	12	163					C	12885051	T	C	12885051	3	2	268	1	0	0	0	0	1	0	0	0	12427	1696	59	3	254	3	PRAMEF11	1	12885051	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		12885051	236365570	1	29367											
TAS1R2	80834	broad.mit.edu	37	chr1	19181078	19181078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaggcgatccacacggCgccagtgaagttctggcgca	14	13	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:19181078C>T	ENST00000375371.3	-	3	907	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	296					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)	ATCCACACGGCGCCAGTGAAG	0.637																																						ENST00000375371.3																			0				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						c.(886-888)Gcc>Acc		taste receptor, type 1, member 2	Aspartame(DB00168)						55	53	54					1																	19181078		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181078C>T		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.886G>A	1.37:g.19181078C>T	ENSP00000364520:p.Ala296Thr					RP13-279N23.2_ENST00000494072.3_3'UTR	p.A296T	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		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)	3	907	-		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)	296					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.886G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	6.826	0.521544	0.13005	.	.	ENSG00000179002	ENST00000375371	D	0.82526	-1.62	4.89	-4.99	0.03010	Extracellular ligand-binding receptor (1);	2.484110	0.01813	N	0.033595	T	0.67050	0.2852	N	0.19112	0.55	0.09310	N	1	B	0.22346	0.068	B	0.17433	0.018	T	0.52548	-0.8561	10	0.29301	T	0.29	.	3.4977	0.07661	0.1074:0.1192:0.1023:0.6712	.	296	Q8TE23	TS1R2_HUMAN	T	296	ENSP00000364520:A296T	ENSP00000364520:A296T	A	-	1	0	TAS1R2	19053665	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.309000	0.08145	-1.054000	0.03214	0.561000	0.74099	GCC		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			11	43	0	0	0	1	0	11	43					T	19181078	C	T	19181078	3	4	268	1	0	0	0	0	1	0	0	0	15560	768	27	1	1649	1	TAS1R2	1	19181078	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	6296027	19181078	230069543	2	29368											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-													atgtattctcctagccgctaCcccccgcagcagcagcagca					rs377622327		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:27100176delC	ENST00000324856.7	+	16	4343	c.3972delC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y941fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1324fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					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)	p.Y1324*(1)	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)		CTAGCCGCTACCCCCCgcagc	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.Y1324*(1)	endometrium(1)	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						c.(3970-3972)tafs		AT rich interactive domain 1A (SWI-like)							53	59	57					1																	27100176		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100176delC	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.3972delC	1.37:g.27100176delC	ENSP00000320485:p.Tyr1324fs					ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1324fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y941fs	p.Y1324fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	16	4343	+		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)	1324					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3972delC	CCDS285.1																																																																																				0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	131						23	131	---	---	---	---	-	27100176	C	-	27100176	7	5	268	1	0	1	0	1	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-HT-7688-01A-11D-2253-08	7919098	27100176	222150445	3	29369											
SNRNP40	9410	broad.mit.edu	37	chr1	31744294	31744294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcaggccagtcactgaaTctgcatggcctctcatggtg	10	12	4	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:31744294T>C	ENST00000263694.4	-	6	725	c.707A>G	c.(706-708)gAt>gGt	p.D236G	SNRNP40_ENST00000446633.2_Missense_Mutation_p.D236G|SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000373720.3_5'Flank	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	236					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)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCACTGAATCTGCATGGCC	0.448																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(706-708)gAt>gGt		small nuclear ribonucleoprotein 40kDa (U5)							80	81	80					1																	31744294		2203	4300	6503	SO:0001583	missense	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31744294T>C	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.707A>G	1.37:g.31744294T>C	ENSP00000263694:p.Asp236Gly					SNRNP40_ENST00000446633.2_Missense_Mutation_p.D236G|SNRNP40_ENST00000489853.1_5'UTR	p.D236G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			6	725	-			236					B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.707A>G	CCDS340.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.014257	0.93404	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.58797	0.31;0.31	5.76	5.76	0.90799	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	0.67487	0.2898	L	0.38953	1.18	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.75484	0.986;0.954	T	0.66256	-0.5969	10	0.38643	T	0.18	.	16.087	0.81065	0.0:0.0:0.0:1.0	.	236;236	B4DQJ1;Q96DI7	.;SNR40_HUMAN	G	236	ENSP00000263694:D236G;ENSP00000406841:D236G	ENSP00000263694:D236G	D	-	2	0	SNRNP40	31516881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.979000	0.88103	2.202000	0.70862	0.533000	0.62120	GAT		0.448	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		7	51	0	0	0	1	0	7	51					C	31744294	T	C	31744294	3	2	268	1	0	0	0	0	1	0	0	0	14856	1435	50	3	386	3	SNRNP40	1	31744294	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4644118	31744294	217506327	4	29370											
RLF	6018	broad.mit.edu	37	chr1	40702367	40702367	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaaattagaagattgccacCtgcaagacagagatttgtat	9	7	0	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:40702367C>G	ENST00000372771.4	+	8	2020	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	665					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)			AGATTGCCACCTGCAAGACAG	0.418																																						ENST00000372771.4																			0				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						c.(1993-1995)Ctg>Gtg		rearranged L-myc fusion							121	120	120					1																	40702367		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702367C>G		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.1993C>G	1.37:g.40702367C>G	ENSP00000361857:p.Leu665Val						p.L665V	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	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)		8	2020	+	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)	665					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.1993C>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234241	0.22626	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.53423	0.62	6.17	6.17	0.99709	.	0.064498	0.64402	D	0.000006	T	0.53578	0.1805	L	0.32530	0.975	0.54753	D	0.99998	P;D	0.57899	0.508;0.981	B;P	0.53490	0.234;0.727	T	0.40515	-0.9559	10	0.37606	T	0.19	-4.7098	20.8794	0.99867	0.0:1.0:0.0:0.0	.	358;665	F5H2M5;Q13129	.;RLF_HUMAN	V	665;358	ENSP00000361857:L665V	ENSP00000361857:L665V	L	+	1	2	RLF	40474954	0.885000	0.30320	1.000000	0.80357	0.996000	0.88848	0.840000	0.27600	2.941000	0.99782	0.655000	0.94253	CTG		0.418	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		39	88	0	0	0	1	0	39	88					G	40702367	C	G	40702367	3	3	268	1	0	0	0	0	1	0	0	0	13389	680	24	4	2023	4	RLF	1	40702367	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8958073	40702367	208548254	5	29371											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533183	47533183	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggagccctcctggcttcaGgaactcatggctcacccctt	9	15	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:47533183G>C	ENST00000334194.3	+	1	24	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGGCTTCAGGAACTCATGG	0.522																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(19-21)caG>caC		cytochrome P450, family 4, subfamily Z, polypeptide 1							50	46	48					1																	47533183		2203	4298	6501	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533183G>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.21G>C	1.37:g.47533183G>C	ENSP00000334246:p.Gln7His						p.Q7H	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	24	+			7					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.21G>C	CCDS545.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993865	0.19043	.	.	ENSG00000186160	ENST00000334194	T	0.70164	-0.46	2.99	2.04	0.26737	.	3.808310	0.01903	U	0.039303	T	0.46908	0.1417	N	0.08118	0	0.09310	N	1	P	0.49253	0.921	B	0.39027	0.288	T	0.48990	-0.8985	10	0.54805	T	0.06	.	6.3533	0.21387	0.1509:0.0:0.8491:0.0	.	7	Q86W10	CP4Z1_HUMAN	H	7	ENSP00000334246:Q7H	ENSP00000334246:Q7H	Q	+	3	2	CYP4Z1	47305770	0.004000	0.15560	0.004000	0.12327	0.174000	0.22865	0.526000	0.22971	0.544000	0.28883	0.461000	0.40582	CAG		0.522	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		11	16	0	0	0	1	0	11	16					C	47533183	G	C	47533183	3	2	268	1	0	0	0	0	1	0	0	0	4194	991	35	4	23	4	CYP4Z1	1	47533183	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6830816	47533183	201717438	6	29372											
PTGER3	5733	broad.mit.edu	37	chr1	71418728	71418728	+	3'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtatctgagagttctgCaaactgcagattaactaacc	7	10	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:71418728C>A	ENST00000414819.1	-	0	1441				PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000351052.5_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000356595.4_Missense_Mutation_p.L373F	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gagagttctgcaaactgcaga	0.338																																						ENST00000356595.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1117-1119)ttG>ttT		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						141	125	131					1																	71418728		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418728C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*38G>T	1.37:g.71418728C>A						PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370931.3_Intron	p.L373F	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN			4	1329	-			0					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000414819.1	37	c.1119G>T	CCDS656.1	.	.	.	.	.	.	.	.	.	.	C	4.047	0.006401	0.07866	.	.	ENSG00000050628	ENST00000356595	T	0.13307	2.6	0.587	0.587	0.17439	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B	0.33583	0.418	B	0.17979	0.02	T	0.45833	-0.9234	8	0.22109	T	0.4	.	.	.	.	.	373	B1AK19	.	F	373	ENSP00000349003:L373F	ENSP00000349003:L373F	L	-	3	2	PTGER3	71191316	0.048000	0.20356	0.031000	0.17742	0.395000	0.30598	0.685000	0.25378	0.561000	0.29186	0.305000	0.20034	TTG		0.338	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957		3	74	1	0	1	1	1	3	74					A	71418728	C	A	71418728	1	1	268	0	1	0	0	0	0	0	0	0	12744	709	25	4		4	PTGER3	1	71418728	3'UTR	SNP	C	TCGA-HT-7688-01A-11D-2253-08	23885545	71418728	177831893	7	29373											
AGL	178	broad.mit.edu	37	chr1	100353559	100353559	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctccagattaactttggctGagctaaatcagatcctttac	6	11	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:100353559G>A	ENST00000294724.4	+	21	3185	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	AGL_ENST00000361915.3_Missense_Mutation_p.E903K|AGL_ENST00000370161.2_Missense_Mutation_p.E887K|AGL_ENST00000361522.4_Missense_Mutation_p.E886K|AGL_ENST00000370165.3_Missense_Mutation_p.E903K|AGL_ENST00000361302.3_Missense_Mutation_p.E887K|AGL_ENST00000370163.3_Missense_Mutation_p.E903K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	903					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AACTTTGGCTGAGCTAAATCA	0.373																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2707-2709)Gag>Aag		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							95	91	92					1																	100353559		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100353559G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2707G>A	1.37:g.100353559G>A	ENSP00000294724:p.Glu903Lys					AGL_ENST00000370163.3_Missense_Mutation_p.E903K|AGL_ENST00000370161.2_Missense_Mutation_p.E887K|AGL_ENST00000361915.3_Missense_Mutation_p.E903K|AGL_ENST00000361522.4_Missense_Mutation_p.E886K|AGL_ENST00000361302.3_Missense_Mutation_p.E887K|AGL_ENST00000370165.3_Missense_Mutation_p.E903K	p.E903K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	21	3185	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	903					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2707G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124933	0.77436	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.049346	0.85682	D	0.000000	T	0.17704	0.0425	L	0.34521	1.04	0.52099	D	0.999948	B;B;B	0.23249	0.082;0.082;0.049	B;B;B	0.25614	0.062;0.062;0.028	T	0.03306	-1.1050	10	0.54805	T	0.06	.	19.1783	0.93612	0.0:0.0:1.0:0.0	.	886;887;903	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	K	903;903;903;903;887;887;886	ENSP00000355106:E903K;ENSP00000359184:E903K;ENSP00000359182:E903K;ENSP00000294724:E903K;ENSP00000354971:E887K;ENSP00000359180:E887K;ENSP00000354635:E886K	ENSP00000294724:E903K	E	+	1	0	AGL	100126147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.869000	0.92326	2.595000	0.87683	0.544000	0.68410	GAG		0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		5	44	0	0	0	1	0	5	44					A	100353559	G	A	100353559	3	1	268	1	0	0	0	0	1	0	0	0	384	1291	45	2	2854	2	AGL	1	100353559	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	28934831	100353559	148897062	8	29374											
SYCP1	6847	broad.mit.edu	37	chr1	115487052	115487052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgaggacaaaaagatAtcagaagaaaatcttttgga	9	3	2	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:115487052A>G	ENST00000369522.3	+	24	2259	c.2019A>G	c.(2017-2019)atA>atG	p.I673M	SYCP1_ENST00000369518.1_Missense_Mutation_p.I673M	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	673					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)		ACAAAAAGATATCAGAAGAAA	0.279																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				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						c.(2017-2019)atA>atG		synaptonemal complex protein 1							31	35	34					1																	115487052		2201	4281	6482	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115487052A>G	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.2019A>G	1.37:g.115487052A>G	ENSP00000358535:p.Ile673Met					SYCP1_ENST00000369518.1_Missense_Mutation_p.I673M	p.I673M	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		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)	24	2259	+	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)	673					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2019A>G	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474237	0.26423	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56275	0.47;0.47;0.47	4.24	0.369	0.16151	.	0.993065	0.08200	N	0.982476	T	0.23171	0.0560	L	0.54323	1.7	0.20703	N	0.999867	B;B	0.12630	0.006;0.006	B;B	0.19666	0.026;0.026	T	0.33163	-0.9879	10	0.44086	T	0.13	0.0291	4.0177	0.09652	0.6736:0.0:0.1747:0.1517	.	673;673	B7ZLS9;Q15431	.;SYCP1_HUMAN	M	673	ENSP00000358535:I673M;ENSP00000410011:I673M;ENSP00000358531:I673M	ENSP00000358531:I673M	I	+	3	3	SYCP1	115288575	0.002000	0.14202	0.994000	0.49952	0.978000	0.69477	0.166000	0.16583	-0.143000	0.11334	0.533000	0.62120	ATA		0.279	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		4	23	0	0	0	1	0	4	23					G	115487052	A	G	115487052	3	3	268	1	0	0	0	0	1	0	0	0	15428	439	16	3	2109	3	SYCP1	1	115487052	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15133493	115487052	133763569	9	29375											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859423	149859423	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggacgagcgcgacttgGccttagcgcgggccttgcct	16	14	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:149859423G>C	ENST00000331128.3	-	1	43	c.44C>G	c.(43-45)gCc>gGc	p.A15G	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	15						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)			GCGCGACTTGGCCTTAGCGCG	0.602																																						ENST00000331128.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(43-45)gCc>gGc		histone cluster 2, H2ab							56	63	61					1																	149859423		2203	4294	6497	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859423G>C	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.44C>G	1.37:g.149859423G>C	ENSP00000332790:p.Ala15Gly						p.A15G	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	43	-	Breast(34;0.0124)|all_hematologic(923;0.127)		15						Missense_Mutation	SNP	ENST00000331128.3	37	c.44C>G	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900623	0.52227	.	.	ENSG00000184270	ENST00000331128	T	0.42131	0.98	5.27	5.27	0.74061	Histone-fold (2);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.64567	1.98	0.58432	D	0.999997	P	0.35242	0.492	P	0.49421	0.61	T	0.50457	-0.8826	10	0.66056	D	0.02	.	16.7454	0.85470	0.0:0.0:1.0:0.0	.	15	Q8IUE6	H2A2B_HUMAN	G	15	ENSP00000332790:A15G	ENSP00000332790:A15G	A	-	2	0	HIST2H2AB	148126047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.019000	0.88732	2.621000	0.88768	0.655000	0.94253	GCC		0.602	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		4	164	0	0	0	1	0	4	164					C	149859423	G	C	149859423	3	2	268	1	0	0	0	0	1	0	0	0	7177	1203	42	4	352	4	HIST2H2AB	1	149859423	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	34372371	149859423	99391198	10	29376											
FLG2	388698	broad.mit.edu	37	chr1	152323513	152323513	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cactgtggccagatccccttCttccagttgtcctggaccct	8	16	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:152323513C>G	ENST00000388718.5	-	3	6821	c.6749G>C	c.(6748-6750)aGa>aCa	p.R2250T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2250					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)			AGATCCCCTTCTTCCAGTTGT	0.522																																						ENST00000388718.5																			0				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						c.(6748-6750)aGa>aCa		filaggrin family member 2							362	341	348					1																	152323513		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323513C>G	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.6749G>C	1.37:g.152323513C>G	ENSP00000373370:p.Arg2250Thr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R2250T	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6821	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2250					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6749G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745630	0.15710	.	.	ENSG00000143520	ENST00000388718	T	0.09538	2.97	3.93	2.02	0.26589	.	.	.	.	.	T	0.12689	0.0308	M	0.81942	2.565	0.09310	N	1	D	0.67145	0.996	D	0.75020	0.985	T	0.14337	-1.0476	9	0.13470	T	0.59	-4.6618	6.8023	0.23758	0.0:0.7693:0.0:0.2307	.	2250	Q5D862	FILA2_HUMAN	T	2250	ENSP00000373370:R2250T	ENSP00000373370:R2250T	R	-	2	0	FLG2	150590137	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.414000	0.07114	0.438000	0.26450	0.549000	0.68633	AGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		14	638	0	0	0	1	0	14	638					G	152323513	C	G	152323513	3	3	268	1	0	0	0	0	1	0	0	0	5923	913	32	4	430	4	FLG2	1	152323513	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2464090	152323513	96927108	11	29377											
SPRR2F	6705	broad.mit.edu	37	chr1	153085129	153085129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcacttcgggggtggAcatggctctgggcactttgg	17	9	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:153085129A>G	ENST00000468739.1	-	2	141	c.81T>C	c.(79-81)tgT>tgC	p.C27C	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	27	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	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)			TCGGGGGTGGACATGGCTCTG	0.607																																						ENST00000468739.1																			0				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4						c.(79-81)tgT>tgC		small proline-rich protein 2F							135	118	124					1																	153085129		2203	4297	6500	SO:0001819	synonymous_variant	0				keratinization	cornified envelope|cytoplasm		g.chr1:153085129A>G	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.81T>C	1.37:g.153085129A>G						SPRR2B_ENST00000368752.4_Intron	p.C27C	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	141	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		27			3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.		Q5T9T3	Silent	SNP	ENST00000468739.1	37	c.81T>C	CCDS30867.1																																																																																				0.607	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1			6	333	0	0	0	1	0	6	333					G	153085129	A	G	153085129	2	3	268	1	0	0	0	0	0	0	0	1	15100	273	10	3		3	SPRR2F	1	153085129	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	761616	153085129	96165492	12	29378											
CD1B	910	broad.mit.edu	37	chr1	158299224	158299224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgacaggacaggccagcCgcctccccatctgccacatc	8	20	1	0	rs367979289		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158299224C>T	ENST00000368168.3	-	4	929	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	274	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAGGCCAGCCGCCTCCCCAT	0.582																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(820-822)gcG>gcA		CD1b molecule		C		1,4405	2.1+/-5.4	0,1,2202	94	88	90		822	-8.1	0	1		90	0,8600		0,0,4300	no	coding-synonymous	CD1B	NM_001764.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		274/334	158299224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299224C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.822G>A	1.37:g.158299224C>T							p.A274A	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			4	929	-	all_hematologic(112;0.0378)		274			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.822G>A	CCDS1176.1																																																																																				0.582	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		5	214	0	0	0	1	0	5	214					T	158299224	C	T	158299224	2	4	268	1	0	0	0	0	0	0	0	1	2975	639	23	1		1	CD1B	1	158299224	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5214095	158299224	90951397	13	29379											
CD1E	913	broad.mit.edu	37	chr1	158325321	158325321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctcgatttctagcggGgctcatggaagcaggggagt	15	10	2	0	rs142840776		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158325321G>A	ENST00000368167.3	+	3	826	c.587G>A	c.(586-588)gGg>gAg	p.G196E	CD1E_ENST00000434258.1_Missense_Mutation_p.G194E|CD1E_ENST00000368163.3_Missense_Mutation_p.G196E|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.G97E|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G196E|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G196E|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	196	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.G196E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTAGCGGGGCTCATGGAA	0.473																																						ENST00000444681.2																			1	Substitution - Missense(1)	p.G196E(1)	skin(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(289-291)gGg>gAg		CD1e molecule							45	45	45					1																	158325321		1911	4132	6043	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325321G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.587G>A	1.37:g.158325321G>A	ENSP00000357149:p.Gly196Glu					CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G196E|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G194E|CD1E_ENST00000368160.3_Missense_Mutation_p.G196E|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G196E|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G196E|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron	p.G97E	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	583	+	all_hematologic(112;0.0378)		196					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.290G>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803525	0.50315	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	4.53	3.62	0.41486	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.300108	0.24262	N	0.040073	T	0.21022	0.0506	M	0.92784	3.345	0.09310	N	1	D;D;P;D;D;D;D	0.89917	0.998;0.985;0.886;0.997;0.979;1.0;0.999	D;P;P;D;P;D;D	0.78314	0.944;0.778;0.79;0.963;0.589;0.991;0.985	T	0.10917	-1.0609	10	0.66056	D	0.02	-7.9638	8.7344	0.34519	0.105:0.0:0.895:0.0	.	97;194;97;196;196;196;196	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	E	194;97;196;196;196;196	ENSP00000401957:G194E;ENSP00000402906:G97E;ENSP00000357149:G196E;ENSP00000357145:G196E;ENSP00000357142:G196E;ENSP00000357143:G196E	ENSP00000357142:G196E	G	+	2	0	CD1E	156591945	0.007000	0.16637	0.004000	0.12327	0.012000	0.07955	1.709000	0.37909	1.264000	0.44198	0.563000	0.77884	GGG		0.473	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		4	38	0	0	0	1	0	4	38					A	158325321	G	A	158325321	3	1	268	1	0	0	0	0	1	0	0	0	2978	1232	43	2	597	2	CD1E	1	158325321	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26097	158325321	90925300	14	29380											
SCYL3	57147	broad.mit.edu	37	chr1	169823532	169823532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagcagcagaaggcttaAtttctgggatcatatcagca	10	7	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:169823532A>G	ENST00000367770.1	-	12	2095	c.2048T>C	c.(2047-2049)aTt>aCt	p.I683T	SCYL3_ENST00000367771.6_Missense_Mutation_p.I629T|SCYL3_ENST00000367772.4_Missense_Mutation_p.I683T			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	683	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2047-2049)aTt>aCt		SCY1-like 3 (S. cerevisiae)							135	139	138					1																	169823532		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169823532A>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.2048T>C	1.37:g.169823532A>G	ENSP00000356744:p.Ile683Thr					SCYL3_ENST00000367770.1_Missense_Mutation_p.I683T|SCYL3_ENST00000367771.5_Missense_Mutation_p.I629T	p.I683T	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			13	2245	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		683			Interaction with EZR.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.2048T>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510162	0.85282	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770	T;T;T	0.60171	0.21;0.21;0.21	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.991	T	0.73953	-0.3820	10	0.87932	D	0	-24.0871	15.7969	0.78420	1.0:0.0:0.0:0.0	.	275;629;683	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	T	683;629;683	ENSP00000356746:I683T;ENSP00000356745:I629T;ENSP00000356744:I683T	ENSP00000356744:I683T	I	-	2	0	SCYL3	168090156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.919000	0.92770	2.207000	0.71202	0.533000	0.62120	ATT		0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		6	109	0	0	0	1	0	6	109					G	169823532	A	G	169823532	3	3	268	1	0	0	0	0	1	0	0	0	13949	101	4	3	188	3	SCYL3	1	169823532	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11498211	169823532	79427089	15	29381											
C1orf129	80133	broad.mit.edu	37	chr1	170928725	170928725	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcagttatgagtacaTtgaggacatggaggtaaaat	15	3	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:170928725T>C	ENST00000367758.3	+	5	374	c.275T>C	c.(274-276)aTt>aCt	p.I92T	MROH9_ENST00000367759.4_Missense_Mutation_p.I92T	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	92																	TATGAGTACATTGAGGACATG	0.363																																						ENST00000367759.4																			0											c.(274-276)aTt>aCt		maestro heat-like repeat family member 9							114	107	109					1																	170928725		1853	4103	5956	SO:0001583	missense	80133							g.chr1:170928725T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.275T>C	1.37:g.170928725T>C	ENSP00000356732:p.Ile92Thr					MROH9_ENST00000367758.3_Missense_Mutation_p.I92T	p.I92T	NM_001163629.1	NP_001157101.1					5	429	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.275T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	4.376	0.069386	0.08436	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.13778	4.16;2.56	5.61	-6.53	0.01866	.	2.213880	0.01733	N	0.028996	T	0.01320	0.0043	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32693	-0.9897	10	0.17832	T	0.49	11.0206	8.0028	0.30308	0.3112:0.4538:0.0:0.235	.	92;92	F5GWX6;Q5TGP6	.;CA129_HUMAN	T	92	ENSP00000356733:I92T;ENSP00000356732:I92T	ENSP00000356732:I92T	I	+	2	0	C1orf129	169195349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.135000	0.01306	-1.521000	0.01771	-1.027000	0.02421	ATT		0.363	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		6	43	0	0	0	1	0	6	43					C	170928725	T	C	170928725	3	2	268	1	0	0	0	0	1	0	0	0	1996	1493	52	3	289	3	C1orf129	1	170928725	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	1105193	170928725	78321896	16	29382											
OR2M7	391196	broad.mit.edu	37	chr1	248486965	248486965	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgccctttcctaagattttCattaatgctctggtcacttc	5	11	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:248486965C>A	ENST00000317965.2	-	1	934	c.906G>T	c.(904-906)atG>atT	p.M302I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M302I(1)		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)			CTAAGATTTTCATTAATGCTC	0.403																																						ENST00000317965.2																			1	Substitution - Missense(1)	p.M302I(1)	lung(1)	breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(904-906)atG>atT		olfactory receptor, family 2, subfamily M, member 7							66	67	67					1																	248486965		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248486965C>A	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.906G>T	1.37:g.248486965C>A	ENSP00000324557:p.Met302Ile						p.M302I	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	934	-	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)		302					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.906G>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675690	0.14841	.	.	ENSG00000177186	ENST00000317965	T	0.35973	1.28	1.88	-0.801	0.10893	.	.	.	.	.	T	0.17492	0.0420	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	9	0.52906	T	0.07	.	2.7367	0.05242	0.2407:0.4691:0.0:0.2902	.	302	Q8NG81	OR2M7_HUMAN	I	302	ENSP00000324557:M302I	ENSP00000324557:M302I	M	-	3	0	OR2M7	246553588	0.001000	0.12720	0.006000	0.13384	0.008000	0.06430	-0.152000	0.10159	0.732000	0.32470	0.184000	0.17185	ATG		0.403	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		6	52	1	0	0.000274275	1	0.000279516	6	52					A	248486965	C	A	248486965	3	1	268	1	0	0	0	0	1	0	0	0	11014	826	29	4	35	4	OR2M7	1	248486965	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	77558240	248486965	763656	17	29383											
CAD	790	broad.mit.edu	37	chr2	27462334	27462334	+	Frame_Shift_Del	DEL	G	G	-													gggaggttgcctatatcgatGggcaggtacgcaagtagccc							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:27462334delG	ENST00000403525.1	+	32	5344	c.5200delG	c.(5200-5202)gggfs	p.G1734fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.G1797fs			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)					CTATATCGATGGGCAGGTACG	0.567																																						ENST00000264705.4																			0				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						c.(5389-5391)ggfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						71	61	64					2																	27462334		2203	4300	6503	SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27462334delG	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.5200delG	2.37:g.27462334delG	ENSP00000384510:p.Gly1734fs					CAD_ENST00000403525.1_Frame_Shift_Del_p.G1734fs	p.G1797fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			33	5551	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1797			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37	c.5389delG																																																																																					0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			25	69						25	69	---	---	---	---	-	27462334	G	-	27462334	7	5	268	1	0	1	0	1	0	0	0	0	2565	1348	47	0	5519	0	CAD	2	27462334	Frame_Shift_Del	DEL	G	TCGA-HT-7688-01A-11D-2253-08		27462334	215737039	18	29384											
ANTXR1	84168	broad.mit.edu	37	chr2	69297779	69297779	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtctttggatttcagAgaacaaatccgtcaaggcct	10	8	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:69297779A>G	ENST00000303714.4	+	4	619	c.297A>G	c.(295-297)agA>agG	p.R99R	ANTXR1_ENST00000409829.3_Splice_Site_p.R99R|ANTXR1_ENST00000409349.3_Splice_Site_p.R99R	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	99	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGATTTCAGAGAACAAATCC	0.378									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.e4-1		anthrax toxin receptor 1							82	83	83					2																	69297779		2203	4300	6503	SO:0001630	splice_region_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69297779A>G	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.297-1A>G	2.37:g.69297779A>G						ANTXR1_ENST00000409829.3_Splice_Site_p.R99_splice|ANTXR1_ENST00000409349.3_Splice_Site_p.R99_splice	p.R99_splice	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			4	619	+			99			VWFA.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Splice_Site	SNP	ENST00000303714.4	37	c.296_splice	CCDS1892.1																																																																																				0.378	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	Silent	3	63	0	0	0	1	0	3	63					G	69297779	A	G	69297779	5	3	268	1	0	0	0	0	0	0	1	0	711	318	11	3	311	3	ANTXR1	2	69297779	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	41835445	69297779	173901594	19	29385											
MXD1	4084	broad.mit.edu	37	chr2	70164431	70164431	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagcgagagcagcgacAcctgaagaggcagctggaga	15	10	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:70164431A>T	ENST00000264444.2	+	5	643	c.383A>T	c.(382-384)cAc>cTc	p.H128L	MXD1_ENST00000540449.1_Missense_Mutation_p.H118L	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	128					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGCAGCGACACCTGAAGAGG	0.577																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(382-384)cAc>cTc		MAX dimerization protein 1							100	102	101					2																	70164431		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70164431A>T		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.383A>T	2.37:g.70164431A>T	ENSP00000264444:p.His128Leu					MXD1_ENST00000540449.1_Missense_Mutation_p.H118L	p.H128L	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN			5	643	+			128					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.383A>T	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047255	0.55110	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.42513	1.66;1.66;0.97	5.95	5.95	0.96441	Helix-loop-helix DNA-binding (2);	0.045494	0.85682	D	0.000000	T	0.38772	0.1053	M	0.67953	2.075	0.80722	D	1	P;P;P	0.47409	0.895;0.895;0.895	B;B;B	0.36666	0.23;0.23;0.23	T	0.33420	-0.9869	10	0.18276	T	0.48	.	15.2477	0.73517	1.0:0.0:0.0:0.0	.	118;128;128	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	L	96;128;118	ENSP00000410672:H96L;ENSP00000264444:H128L;ENSP00000443935:H118L	ENSP00000264444:H128L	H	+	2	0	MXD1	70017935	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.412000	0.80091	2.279000	0.76181	0.533000	0.62120	CAC		0.577	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		5	113	0	0	0	1	0	5	113					T	70164431	A	T	70164431	3	4	268	1	0	0	0	0	1	0	0	0	9999	159	6	5	401	5	MXD1	2	70164431	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	866652	70164431	173034942	20	29386											
EIF2AK3	9451	broad.mit.edu	37	chr2	88913303	88913303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatccaaatcccactgcTttttaccatgattttcagga	4	13	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:88913303T>C	ENST00000303236.3	-	2	678	c.377A>G	c.(376-378)aAg>aGg	p.K126R	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	126					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ATCCCACTGCTTTTTACCATG	0.353																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(376-378)aAg>aGg		eukaryotic translation initiation factor 2-alpha kinase 3							123	109	114					2																	88913303		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913303T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.377A>G	2.37:g.88913303T>C	ENSP00000307235:p.Lys126Arg					EIF2AK3_ENST00000419748.1_5'UTR	p.K126R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			2	678	-			126					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.377A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471166	0.63625	.	.	ENSG00000172071	ENST00000303236	T	0.30448	1.53	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	M	0.72118	2.19	0.47862	D	0.999533	D	0.69078	0.997	D	0.75020	0.985	T	0.48399	-0.9039	10	0.14252	T	0.57	-23.781	15.3963	0.74798	0.0:0.0:0.0:1.0	.	126	Q9NZJ5	E2AK3_HUMAN	R	126	ENSP00000307235:K126R	ENSP00000307235:K126R	K	-	2	0	EIF2AK3	88694418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.597000	0.82733	2.028000	0.59812	0.533000	0.62120	AAG		0.353	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		10	95	0	0	0	1	0	10	95					C	88913303	T	C	88913303	3	2	268	1	0	0	0	0	1	0	0	0	4998	1609	56	3	3037	3	EIF2AK3	2	88913303	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	18748872	88913303	154286070	21	29387											
PTPN4	5775	broad.mit.edu	37	chr2	120709680	120709680	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagagacattctggggaActcatgcttctagttcgacc	11	9	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:120709680A>G	ENST00000263708.2	+	19	2559	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	PTPN4_ENST00000544261.1_Silent_p.E229E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	596					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCTGGGGAACTCATGCTTC	0.403																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1786-1788)gaA>gaG		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						168	157	161					2																	120709680		2203	4300	6503	SO:0001819	synonymous_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120709680A>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1788A>G	2.37:g.120709680A>G						PTPN4_ENST00000544261.1_Silent_p.E229E	p.E596E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			19	2559	+			596					B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	c.1788A>G	CCDS2129.1																																																																																				0.403	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			6	99	0	0	0	1	0	6	99					G	120709680	A	G	120709680	2	3	268	1	0	0	0	0	0	0	0	1	12790	40	2	3		3	PTPN4	2	120709680	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	31796377	120709680	122489693	22	29388											
TTN	7273	broad.mit.edu	37	chr2	179431332	179431332	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccatcatagatgggtttAccccaggcaagtgtgattga	11	10	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179431332A>G	ENST00000591111.1	-	276	74828	c.74604T>C	c.(74602-74604)ggT>ggC	p.G24868G	TTN_ENST00000589042.1_Silent_p.G26509G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G23941G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G17636G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.G17569G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G17444G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24868	Fibronectin type-III 81. {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)			AGATGGGTTTACCCCAGGCAA	0.433																																						ENST00000589042.1																			0				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						c.(79525-79527)ggT>ggC		titin							192	192	192					2																	179431332		1865	4096	5961	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431332A>G	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.74604T>C	2.37:g.179431332A>G						TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.G17636G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.G24868G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.G23941G|TTN_ENST00000359218.5_Silent_p.G17569G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G17444G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.G26509G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79751	-			24868					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	ENST00000591111.1	37	c.79527T>C																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	191	0	0	0	1	0	4	191					G	179431332	A	G	179431332	2	3	268	1	0	0	0	0	0	0	0	1	16732	378	14	3		3	TTN	2	179431332	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	58721652	179431332	63768041	23	29389											
TTN	7273	broad.mit.edu	37	chr2	179463964	179463964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcggaatacatattcatgGccttctagcaatttgggaat	8	7	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179463964G>A	ENST00000591111.1	-	240	51857	c.51633C>T	c.(51631-51633)ggC>ggT	p.G17211G	TTN_ENST00000589042.1_Silent_p.G18852G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.G16284G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G9979G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.G9912G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G9787G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17211	Fibronectin type-III 24. {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)			CATATTCATGGCCTTCTAGCA	0.428																																						ENST00000589042.1																			0				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						c.(56554-56556)ggC>ggT		titin							206	196	199					2																	179463964		1901	4116	6017	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463964G>A	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.51633C>T	2.37:g.179463964G>A						TTN_ENST00000342175.6_Silent_p.G9979G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.G17211G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.G16284G|TTN_ENST00000359218.5_Silent_p.G9912G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.G9787G|TTN-AS1_ENST00000585451.1_RNA	p.G18852G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	56780	-			17211			Ig-like 107.		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	ENST00000591111.1	37	c.56556C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	118	0	0	0	1	0	26	118					A	179463964	G	A	179463964	2	1	268	1	0	0	0	0	0	0	0	1	16732	1190	42	2		2	TTN	2	179463964	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32632	179463964	63735409	24	29390											
TMEFF2	23671	broad.mit.edu	37	chr2	192818453	192818453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgacagcaatctgaattgttCcaatcacagctgcgattaag	8	9	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:192818453C>G	ENST00000272771.5	-	9	2164	c.980G>C	c.(979-981)gGa>gCa	p.G327A	TMEFF2_ENST00000392314.1_Missense_Mutation_p.G327A|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	327						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGAATTGTTCCAATCACAGC	0.428																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(979-981)gGa>gCa		transmembrane protein with EGF-like and two follistatin-like domains 2							126	109	115					2																	192818453		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192818453C>G	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.980G>C	2.37:g.192818453C>G	ENSP00000272771:p.Gly327Ala					AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.G327A|AC098617.1_ENST00000428980.2_RNA	p.G327A			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		9	1371	-			327					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.980G>C	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930442	0.92389	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.59224	0.28;1.01	5.86	5.86	0.93980	.	0.053167	0.85682	D	0.000000	T	0.57577	0.2063	N	0.20986	0.625	0.80722	D	1	D	0.60575	0.988	P	0.52309	0.695	T	0.54892	-0.8225	10	0.36615	T	0.2	-13.5554	20.1986	0.98248	0.0:1.0:0.0:0.0	.	327	Q9UIK5	TEFF2_HUMAN	A	327	ENSP00000376128:G327A;ENSP00000272771:G327A	ENSP00000272771:G327A	G	-	2	0	TMEFF2	192526698	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.436000	0.80404	2.781000	0.95711	0.650000	0.86243	GGA		0.428	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		3	66	0	0	0	1	0	3	66					G	192818453	C	G	192818453	3	3	268	1	0	0	0	0	1	0	0	0	16011	855	30	4	152	4	TMEFF2	2	192818453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13354489	192818453	50380920	25	29391											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	52	0	0	0	1	0	23	52					T	209113112	C	T	209113112	3	4	268	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16294659	209113112	34086261	26	29392											
BTD	686	broad.mit.edu	37	chr3	15686764	15686764	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtgtgggggtcttggCttcgacacctgtggacagga	17	8	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:15686764C>A	ENST00000303498.5	+	4	1510	c.1401C>A	c.(1399-1401)ggC>ggA	p.G467G	BTD_ENST00000437172.1_Silent_p.G469G|BTD_ENST00000449107.1_Silent_p.G469G|BTD_ENST00000383778.4_Silent_p.G447G	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	467					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGGGTCTTGGCTTCGACACCT	0.507																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(1339-1341)ggC>ggA		biotinidase							99	103	101					3																	15686764		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686764C>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1401C>A	3.37:g.15686764C>A						BTD_ENST00000437172.1_Silent_p.G469G|BTD_ENST00000449107.1_Silent_p.G469G|BTD_ENST00000303498.5_Silent_p.G467G	p.G447G			P43251	BTD_HUMAN			4	1699	+			467					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.1341C>A	CCDS2628.1																																																																																				0.507	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		4	121	1	0	0.00909568	1	0.00921082	4	121					A	15686764	C	A	15686764	2	1	268	1	0	0	0	0	0	0	0	1	1550	784	28	4		4	BTD	3	15686764	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08		15686764	182335666	27	29393											
NEK4	6787	broad.mit.edu	37	chr3	52802575	52802575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgttcagcagctcgccGctctcggctagaggcatttc	10	14	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:52802575G>A	ENST00000233027.5	-	2	341	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NEK4_ENST00000383721.4_Missense_Mutation_p.R47W|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCAGCTCGCCGCTCTCGGCTA	0.453																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(139-141)Cgg>Tgg		NIMA-related kinase 4							107	104	105					3																	52802575		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52802575G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.139C>T	3.37:g.52802575G>A	ENSP00000233027:p.Arg47Trp					NEK4_ENST00000383721.4_Missense_Mutation_p.R47W|NEK4_ENST00000535191.1_Intron	p.R47W	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	2	341	-			47			Protein kinase.		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.139C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809774	0.31961	.	.	ENSG00000114904	ENST00000233027;ENST00000383721	T;T	0.67171	-0.25;-0.25	5.73	4.82	0.62117	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	0.000003	D	0.82365	0.5021	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85102	0.0958	10	0.87932	D	0	.	13.7533	0.62921	0.0:0.0:0.664:0.336	.	47;47	P51957-2;P51957	.;NEK4_HUMAN	W	47	ENSP00000233027:R47W;ENSP00000373227:R47W	ENSP00000233027:R47W	R	-	1	2	NEK4	52777615	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	2.970000	0.49240	1.355000	0.45865	0.563000	0.77884	CGG		0.453	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		5	106	0	0	0	1	0	5	106					A	52802575	G	A	52802575	3	1	268	1	0	0	0	0	1	0	0	0	10326	1086	38	1	2446	1	NEK4	3	52802575	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	37115811	52802575	145219855	28	29394											
PLXNA1	5361	broad.mit.edu	37	chr3	126748802	126748802	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacctggagagcggcaccaaGctgtggcacctggtgaagaa	15	10	0	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:126748802G>C	ENST00000393409.2	+	27	4956	c.4956G>C	c.(4954-4956)aaG>aaC	p.K1652N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1629N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1652					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)		GCGGCACCAAGCTGTGGCACC	0.657																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4885-4887)aaG>aaC		plexin A1							89	86	87					3																	126748802		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748802G>C	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.4956G>C	3.37:g.126748802G>C	ENSP00000377061:p.Lys1652Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1652N	p.K1629N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	4956	+			1652						Missense_Mutation	SNP	ENST00000393409.2	37	c.4887G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141408	0.57044	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14391	2.51;2.51	3.71	2.81	0.32909	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.39358	0.1075	M	0.90145	3.09	0.53688	D	0.999979	P;D	0.89917	0.87;1.0	P;D	0.97110	0.777;1.0	T	0.28364	-1.0046	10	0.87932	D	0	.	7.4366	0.27158	0.206:0.0:0.794:0.0	.	266;1652	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	N	1652;1629	ENSP00000377061:K1652N;ENSP00000251772:K1629N	ENSP00000251772:K1629N	K	+	3	2	PLXNA1	128231492	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.468000	0.35332	0.866000	0.35629	0.313000	0.20887	AAG		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	110	0	0	0	1	0	3	110					C	126748802	G	C	126748802	3	2	268	1	0	0	0	0	1	0	0	0	12119	962	34	4	5062	4	PLXNA1	3	126748802	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	73946227	126748802	71273628	29	29395											
TMCC1	23023	broad.mit.edu	37	chr3	129547187	129547187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcctccaggatcagggTcctcaaataactgttcactg	8	11	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:129547187T>G	ENST00000393238.3	-	3	375	c.35A>C	c.(34-36)gAc>gCc	p.D12A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	12						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						AGGATCAGGGTCCTCAAATAA	0.393																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(34-36)gAc>gCc		transmembrane and coiled-coil domain family 1							72	75	74					3																	129547187		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129547187T>G	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.35A>C	3.37:g.129547187T>G	ENSP00000376930:p.Asp12Ala					TMCC1_ENST00000426664.2_Intron	p.D12A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	375	-			12					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.35A>C	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399462	0.42512	.	.	ENSG00000172765	ENST00000393238	T	0.35048	1.33	5.16	5.16	0.70880	.	0.144240	0.45361	D	0.000364	T	0.27663	0.0680	L	0.44542	1.39	0.80722	D	1	P	0.37781	0.608	B	0.27500	0.08	T	0.06409	-1.0828	10	0.25751	T	0.34	-22.0929	15.3226	0.74135	0.0:0.0:0.0:1.0	.	12	O94876	TMCC1_HUMAN	A	12	ENSP00000376930:D12A	ENSP00000376930:D12A	D	-	2	0	TMCC1	131029877	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.607000	0.82883	2.087000	0.62958	0.397000	0.26171	GAC		0.393	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	130	0	0	0	1	0	5	130					G	129547187	T	G	129547187	3	3	268	1	0	0	0	0	1	0	0	0	15989	1667	58	5	1942	5	TMCC1	3	129547187	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2798385	129547187	68475243	30	29396											
PHC3	80012	broad.mit.edu	37	chr3	169815126	169815126	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaagagaagggcctgTccatcaatctcctgtgctct	9	12	4	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:169815126T>C	ENST00000494943.1	-	15	2912	c.2844A>G	c.(2842-2844)ggA>ggG	p.G948G	PHC3_ENST00000495893.2_Silent_p.G960G			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	948	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655)			GAAGGGCCTGTCCATCAATCT	0.448																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2842-2844)ggA>ggG		polyhomeotic homolog 3 (Drosophila)							171	167	169					3																	169815126		2072	4257	6329	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169815126T>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2844A>G	3.37:g.169815126T>C						PHC3_ENST00000495893.1_Silent_p.G960G	p.G948G			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		15	2912	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		948			SAM.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.2844A>G		.	.	.	.	.	.	.	.	.	.	T	9.408	1.079761	0.20309	.	.	ENSG00000173889	ENST00000484068	.	.	.	5.68	3.19	0.36642	.	.	.	.	.	T	0.52693	0.1750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46721	-0.9171	4	.	.	.	-12.6371	5.1076	0.14793	0.0:0.1557:0.2782:0.5662	.	.	.	.	G	126	.	.	D	-	2	0	PHC3	171297820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.610000	0.24253	0.995000	0.38917	0.482000	0.46254	GAC		0.448	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		3	104	0	0	0	1	0	3	104					C	169815126	T	C	169815126	2	2	268	1	0	0	0	0	0	0	0	1	11818	1654	58	3		3	PHC3	3	169815126	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	40267939	169815126	28207304	31	29397											
TMEM175	84286	broad.mit.edu	37	chr4	944293	944293	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgtgacagtggcctggGcagcacacacaaggtggggg	16	10	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:944293G>C	ENST00000264771.4	+	4	462	c.277G>C	c.(277-279)Gca>Cca	p.A93P	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.A11P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	93						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)			AGTGGCCTGGGCAGCACACAC	0.597																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(277-279)Gca>Cca		transmembrane protein 175							84	79	81					4																	944293		2203	4300	6503	SO:0001583	missense	84286					integral to membrane		g.chr4:944293G>C	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.277G>C	4.37:g.944293G>C	ENSP00000264771:p.Ala93Pro					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Missense_Mutation_p.A11P|TMEM175_ENST00000515740.1_5'UTR	p.A93P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	462	+			93					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.277G>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970715	0.53614	.	.	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000515492;ENST00000359768;ENST00000509508;ENST00000508204;ENST00000510493;ENST00000514546	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.38	2.53	0.30540	.	0.149518	0.44285	D	0.000475	T	0.56411	0.1983	L	0.60455	1.87	0.37655	D	0.92257	D;D;D	0.69078	0.971;0.977;0.997	P;P;D	0.68621	0.9;0.816;0.959	T	0.56098	-0.8035	10	0.33940	T	0.23	-8.4511	6.6108	0.22751	0.2398:0.0:0.7602:0.0	.	11;93;11	D6RBE5;Q9BSA9;B3KR27	.;TM175_HUMAN;.	P	92;93;80;11;11;11;11;11;93	ENSP00000424746:A92P;ENSP00000264771:A93P;ENSP00000425181:A80P;ENSP00000425867:A11P;ENSP00000421750:A11P;ENSP00000423669:A11P;ENSP00000424208:A11P;ENSP00000425763:A93P	ENSP00000264771:A93P	A	+	1	0	TMEM175	934293	1.000000	0.71417	0.714000	0.30535	0.263000	0.26337	4.418000	0.59828	0.437000	0.26423	0.549000	0.68633	GCA		0.597	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		10	92	0	0	0	1	0	10	92					C	944293	G	C	944293	3	2	268	1	0	0	0	0	1	0	0	0	16088	1203	42	4	287	4	TMEM175	4	944293	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		944293	190209983	32	29398											
CWH43	80157	broad.mit.edu	37	chr4	49000535	49000535	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccatcttgtttgtggtttCgtggtactggtttgatctgg	12	6	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:49000535C>G	ENST00000226432.4	+	6	955	c.772C>G	c.(772-774)Cgt>Ggt	p.R258G	CWH43_ENST00000513409.1_Missense_Mutation_p.R231G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	258					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443																																						ENST00000226432.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(772-774)Cgt>Ggt		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							561	430	474					4																	49000535		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49000535C>G		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.772C>G	4.37:g.49000535C>G	ENSP00000226432:p.Arg258Gly					CWH43_ENST00000513409.1_Missense_Mutation_p.R231G	p.R258G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN			6	955	+			258					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.772C>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.023471	0.02061	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.44881	1.48;0.91	4.16	2.42	0.29668	.	0.756295	0.11956	N	0.513270	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	9	.	.	.	.	3.2787	0.06907	0.1837:0.5149:0.0:0.3013	.	258	Q9H720	PG2IP_HUMAN	G	258;231	ENSP00000226432:R258G;ENSP00000422802:R231G	.	R	+	1	0	CWH43	48695292	0.058000	0.20735	0.356000	0.25785	0.008000	0.06430	0.130000	0.15850	0.701000	0.31803	0.591000	0.81541	CGT		0.443	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		11	126	0	0	0	1	0	11	126					G	49000535	C	G	49000535	3	3	268	1	0	0	0	0	1	0	0	0	4073	884	31	4	794	4	CWH43	4	49000535	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	48056242	49000535	142153741	33	29399											
KDR	3791	broad.mit.edu	37	chr4	55981079	55981079	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acataatagactggtaacttTcatcattaatttttgcttca	4	7	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:55981079T>C	ENST00000263923.4	-	5	915	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	207	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 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 MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGTAACTTTCATCATTAAT	0.373			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(619-621)gAa>gGa		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						86	86	86					4																	55981079		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981079T>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.620A>G	4.37:g.55981079T>C	ENSP00000263923:p.Glu207Gly	TSP Lung(20;0.16)					p.E207G	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		5	915	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		207			Ig-like C2-type 2.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.620A>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721633	0.89298	.	.	ENSG00000128052	ENST00000263923	T	0.04970	3.52	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00402	-1.1762	10	0.51188	T	0.08	.	16.315	0.82915	0.0:0.0:0.0:1.0	.	207;207	P35968-2;P35968	.;VGFR2_HUMAN	G	207	ENSP00000263923:E207G	ENSP00000263923:E207G	E	-	2	0	KDR	55675836	1.000000	0.71417	0.977000	0.42913	0.930000	0.56654	7.361000	0.79497	2.250000	0.74265	0.533000	0.62120	GAA		0.373	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	48	0	0	0	1	0	3	48					C	55981079	T	C	55981079	3	2	268	1	0	0	0	0	1	0	0	0	8139	1783	62	3	3554	3	KDR	4	55981079	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	6980544	55981079	135173197	34	29400											
OTUD4	54726	broad.mit.edu	37	chr4	146058891	146058891	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttgcactctgctatcAacagagttggccccagggct	11	12	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:146058891A>C	ENST00000447906.2	-	21	3223	c.3036T>G	c.(3034-3036)gtT>gtG	p.V1012V	OTUD4_ENST00000454497.2_Silent_p.V947V|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1012					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2839-2841)gtT>gtG		OTU domain containing 4							142	149	146					4																	146058891		2203	4299	6502	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058891A>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3036T>G	4.37:g.146058891A>C						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	p.V947V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2978	-	all_hematologic(180;0.151)		1011					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2841T>G																																																																																					0.388	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		3	122	0	0	0	1	0	3	122					C	146058891	A	C	146058891	2	2	268	1	0	0	0	0	0	0	0	1	11314	117	5	5		5	OTUD4	4	146058891	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	90077812	146058891	45095385	35	29401											
DNAH5	1767	broad.mit.edu	37	chr5	13792273	13792273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattttgtcacagaatctcTcacttcttctgagaaacccc	4	13	5	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:13792273T>C	ENST00000265104.4	-	50	8382	c.8278A>G	c.(8278-8280)Aga>Gga	p.R2760G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2760	AAA 3. {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)					ACAGAATCTCTCACTTCTTCT	0.423									Kartagener syndrome																													ENST00000265104.4																			0				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						c.(8278-8280)Aga>Gga		dynein, axonemal, heavy chain 5							111	107	108					5																	13792273		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13792273T>C	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.8278A>G	5.37:g.13792273T>C	ENSP00000265104:p.Arg2760Gly						p.R2760G	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			50	8382	-	Lung NSC(4;0.00476)		2760			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8278A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	4.012	-0.000388	0.07819	.	.	ENSG00000039139	ENST00000265104	T	0.35973	1.28	5.51	1.59	0.23543	ATPase, AAA+ type, core (1);	0.479994	0.24587	N	0.037260	T	0.31670	0.0804	M	0.70595	2.14	0.26051	N	0.981476	B	0.02656	0.0	B	0.13407	0.009	T	0.28776	-1.0033	10	0.15499	T	0.54	.	8.3166	0.32104	0.0:0.0686:0.2566:0.6748	.	2760	Q8TE73	DYH5_HUMAN	G	2760	ENSP00000265104:R2760G	ENSP00000265104:R2760G	R	-	1	2	DNAH5	13845273	0.101000	0.21875	0.974000	0.42286	0.200000	0.23975	1.005000	0.29834	0.413000	0.25759	0.533000	0.62120	AGA		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		3	55	0	0	0	1	0	3	55					C	13792273	T	C	13792273	3	2	268	1	0	0	0	0	1	0	0	0	4604	1559	54	3	5716	3	DNAH5	5	13792273	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		13792273	167122987	36	29402											
PDZD2	23037	broad.mit.edu	37	chr5	32090257	32090257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctcaagccattttggaCgggagggtcaccccccacac	10	14	2	0	rs147353592	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:32090257C>T	ENST00000438447.1	+	20	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W			O15018	PDZD2_HUMAN	PDZ domain containing 2	2235					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R2235W(1)		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						CCATTTTGGACGGGAGGGTCA	0.632																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.R2235W(1)	urinary_tract(1)	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						c.(6703-6705)Cgg>Tgg		PDZ domain containing 2		C	TRP/ARG	0,4406		0,0,2203	160	173	168		6703	4.2	1	5	dbSNP_134	168	3,8597	2.2+/-6.3	0,3,4297	yes	missense	PDZD2	NM_178140.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	2235/2840	32090257	3,13003	2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090257C>T	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.6703C>T	5.37:g.32090257C>T	ENSP00000402033:p.Arg2235Trp					PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W	p.R2235W			O15018	PDZD2_HUMAN			20	7091	+			2235					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.6703C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389537	0.61956	0.0	3.49E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07327	3.2;3.2	5.04	4.15	0.48705	.	0.300128	0.24339	N	0.039397	T	0.14485	0.0350	L	0.59436	1.845	0.33822	D	0.629156	D	0.76494	0.999	P	0.53689	0.732	T	0.09640	-1.0665	10	0.66056	D	0.02	.	6.0917	0.19999	0.0:0.6412:0.2499:0.1089	.	2235	O15018	PDZD2_HUMAN	W	2235;2036;2235	ENSP00000402033:R2235W;ENSP00000282493:R2235W	ENSP00000282493:R2235W	R	+	1	2	PDZD2	32126014	0.999000	0.42202	0.972000	0.41901	0.597000	0.36814	3.260000	0.51523	2.323000	0.78572	0.561000	0.74099	CGG		0.632	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			40	360	0	0	0	1	0	40	360					T	32090257	C	T	32090257	3	4	268	1	0	0	0	0	1	0	0	0	11701	527	19	1	6777	1	PDZD2	5	32090257	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	18297984	32090257	148825003	37	29403											
BDP1	55814	broad.mit.edu	37	chr5	70806830	70806830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtgttactgaggaaaAggtggcagaattgaaacaaa	12	4	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:70806830A>G	ENST00000358731.4	+	17	4174	c.3911A>G	c.(3910-3912)aAg>aGg	p.K1304R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1304	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGAGGAAAAGGTGGCAGAA	0.393																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3910-3912)aAg>aGg		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							100	100	100					5																	70806830		1872	4103	5975	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806830A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3911A>G	5.37:g.70806830A>G	ENSP00000351575:p.Lys1304Arg					BDP1_ENST00000380675.2_5'UTR	p.K1304R	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	4174	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1304			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3911A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911873	0.33721	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11169	2.8	3.32	-6.65	0.01795	.	1.221250	0.06011	N	0.649496	T	0.03305	0.0096	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.29037	0.231;0.013;0.005	B;B;B	0.20955	0.032;0.014;0.002	T	0.33929	-0.9849	10	0.08837	T	0.75	.	3.4545	0.07510	0.2554:0.4779:0.1156:0.151	.	1304;1304;1304	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	R	1304;884	ENSP00000351575:K1304R	ENSP00000351575:K1304R	K	+	2	0	BDP1	70842586	0.002000	0.14202	0.000000	0.03702	0.862000	0.49288	-1.688000	0.01925	-2.663000	0.00418	-0.973000	0.02599	AAG		0.393	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		3	57	0	0	0	1	0	3	57					G	70806830	A	G	70806830	3	3	268	1	0	0	0	0	1	0	0	0	1395	72	3	3	3977	3	BDP1	5	70806830	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	38716573	70806830	110108430	38	29404											
MAP1B	4131	broad.mit.edu	37	chr5	71493611	71493611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagactttggccaagaaaagAaaactgatgatgttgaagcc	10	6	0	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:71493611A>G	ENST00000296755.7	+	5	4727	c.4429A>G	c.(4429-4431)Aaa>Gaa	p.K1477E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1477					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)		CCAAGAAAAGAAAACTGATGA	0.403																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(4429-4431)Aaa>Gaa		microtubule-associated protein 1B							82	81	81					5																	71493611		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493611A>G	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.4429A>G	5.37:g.71493611A>G	ENSP00000296755:p.Lys1477Glu						p.K1477E	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4727	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1477					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4429A>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.229618	0.39399	.	.	ENSG00000131711	ENST00000296755	T	0.04119	3.7	5.54	4.4	0.53042	.	0.162190	0.43747	D	0.000540	T	0.03827	0.0108	N	0.24115	0.695	0.33746	D	0.619997	B;B	0.10296	0.003;0.001	B;B	0.08055	0.002;0.003	T	0.11036	-1.0604	10	0.48119	T	0.1	-17.0295	8.2401	0.31654	0.8507:0.0:0.1493:0.0	.	1351;1477	A2BDK6;P46821	.;MAP1B_HUMAN	E	1477	ENSP00000296755:K1477E	ENSP00000296755:K1477E	K	+	1	0	MAP1B	71529367	1.000000	0.71417	0.983000	0.44433	0.884000	0.51177	5.635000	0.67841	2.119000	0.64992	0.454000	0.30748	AAA		0.403	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		16	32	0	0	0	1	0	16	32					G	71493611	A	G	71493611	3	3	268	1	0	0	0	0	1	0	0	0	9228	247	9	3	4447	3	MAP1B	5	71493611	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	686781	71493611	109421649	39	29405											
AQPEP	206338	broad.mit.edu	37	chr5	115298645	115298645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcactacgatctggagCtgtggccgcagctgaggccc	14	14	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:115298645C>T	ENST00000357872.4	+	1	455	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		111						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CGATCTGGAGCTGTGGCCGCA	0.701																																						ENST00000357872.4																			0											c.(331-333)Ctg>Ttg									36	42	40					5																	115298645		2200	4296	6496	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298645C>T																												ENST00000357872.4:c.331C>T	5.37:g.115298645C>T						AQPEP_ENST00000395528.2_5'UTR	p.L111L	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			1	455	+			111					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.331C>T	CCDS4124.1																																																																																				0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			17	77	0	0	0	1	0	17	77					T	115298645	C	T	115298645	2	4	268	1	0	0	0	0	0	0	0	1	834	796	28	2		2	AQPEP	5	115298645	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	43805034	115298645	65616615	40	29406											
FBN2	2201	broad.mit.edu	37	chr5	127782200	127782203	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													atttctgagtagtttcactcTgtttgtgaccagcagggcat							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:127782200_127782203delTGTT	ENST00000508053.1	-	13	1897_1900	c.923_926delAACA	c.(922-927)aaacagfs	p.KQ308fs	FBN2_ENST00000508989.1_Frame_Shift_Del_p.KQ275fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.KQ308fs			P35556	FBN2_HUMAN	fibrillin 2	308	EGF-like 4; 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)		AGTTTCACTCTGTTTGTGACCAGC	0.426																																						ENST00000508053.1																			0				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						c.(922-927)agfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127782200_127782203delTGTT	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.923_926delAACA	5.37:g.127782200_127782203delTGTT	ENSP00000424571:p.Lys308fs					FBN2_ENST00000262464.4_Frame_Shift_Del_p.KQ308fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.KQ275fs	p.KQ308fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	13	1897_1900	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	308			EGF-like 4; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.923_926delAACA	CCDS34222.1																																																																																				0.426	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		16	75						16	75	---	---	---	---	-	127782203	TGTT	-	127782200	7	5	268	1	0	1	0	1	0	0	0	0	5703	1580	55	0	8048	0	FBN2	5	127782200	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7688-01A-11D-2253-08	12483555	127782200	53133060	41	29407											
CLK4	57396	broad.mit.edu	37	chr5	178045583	178045583	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgactgatgacttgaacagtGtctattgcgcttccttttag	9	8	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:178045583G>C	ENST00000316308.4	-	3	526	c.358C>G	c.(358-360)Cac>Gac	p.H120D	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	120					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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;0.235)		CTTGAACAGTGTCTATTGCGC	0.403																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(358-360)Cac>Gac		CDC-like kinase 4							227	213	218					5																	178045583		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178045583G>C	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.358C>G	5.37:g.178045583G>C	ENSP00000316948:p.His120Asp					CLK4_ENST00000522749.1_5'UTR	p.H120D	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	3	526	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	120						Missense_Mutation	SNP	ENST00000316308.4	37	c.358C>G	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549117	0.27652	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.68025	-0.3	5.85	4.99	0.66335	.	0.198226	0.53938	D	0.000051	T	0.61999	0.2392	M	0.69823	2.125	0.80722	D	1	B;B;B;P;B	0.38922	0.065;0.003;0.018;0.651;0.001	B;B;B;B;B	0.30401	0.023;0.005;0.043;0.115;0.001	T	0.65772	-0.6087	10	0.51188	T	0.08	.	12.7983	0.57571	0.0792:0.0:0.9208:0.0	.	120;120;120;120;120	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	D	120	ENSP00000316948:H120D	ENSP00000316948:H120D	H	-	1	0	CLK4	177978189	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.512000	0.53407	1.483000	0.48342	-0.140000	0.14226	CAC		0.403	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			4	195	0	0	0	1	0	4	195					C	178045583	G	C	178045583	3	2	268	1	0	0	0	0	1	0	0	0	3539	1377	48	4	1131	4	CLK4	5	178045583	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	50263383	178045583	2869677	42	29408											
FOXQ1	94234	broad.mit.edu	37	chr6	1313391	1313391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaacgagtacctcatggGcaagttcccctttttccgcg	9	13	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:1313391G>A	ENST00000296839.2	+	1	717	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	151					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TACCTCATGGGCAAGTTCCCC	0.652																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(451-453)gGc>gAc		forkhead box Q1							37	38	38					6																	1313391		2198	4291	6489	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313391G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.452G>A	6.37:g.1313391G>A	ENSP00000296839:p.Gly151Asp						p.G151D	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	717	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	151					Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.452G>A	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	G	4.140	0.024242	0.08006	.	.	ENSG00000164379	ENST00000296839	D	0.95001	-3.58	3.87	0.879	0.19155	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.290116	0.28821	U	0.014040	T	0.59487	0.2197	N	0.00980	-1.08	0.32136	N	0.586073	P	0.35944	0.529	B	0.38921	0.285	T	0.67461	-0.5665	10	0.02654	T	1	.	5.1247	0.14878	0.1908:0.3273:0.4819:0.0	.	151	Q9C009	FOXQ1_HUMAN	D	151	ENSP00000296839:G151D	ENSP00000296839:G151D	G	+	2	0	FOXQ1	1258391	0.734000	0.28142	0.476000	0.27291	0.445000	0.32107	0.427000	0.21379	-0.151000	0.11176	0.184000	0.17185	GGC		0.652	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		4	65	0	0	0	1	0	4	65					A	1313391	G	A	1313391	3	1	268	1	0	0	0	0	1	0	0	0	6030	1203	42	2	454	2	FOXQ1	6	1313391	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		1313391	169801676	43	29409											
CAP2	10486	broad.mit.edu	37	chr6	17421817	17421817	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggactggtggaaagaCtggaacgagctgtcagccgc	16	9	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:17421817C>G	ENST00000229922.2	+	2	563	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CAP2_ENST00000489374.1_Missense_Mutation_p.L11V|CAP2_ENST00000465994.1_Missense_Mutation_p.L11V|CAP2_ENST00000493172.1_Missense_Mutation_p.L11V|CAP2_ENST00000378990.2_Missense_Mutation_p.L11V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	11					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGTGGAAAGACTGGAACGAGC	0.567																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(31-33)Ctg>Gtg		CAP, adenylate cyclase-associated protein, 2 (yeast)							110	109	109					6																	17421817		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17421817C>G	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.31C>G	6.37:g.17421817C>G	ENSP00000229922:p.Leu11Val					CAP2_ENST00000465994.1_Missense_Mutation_p.L11V|CAP2_ENST00000489374.1_Missense_Mutation_p.L11V|CAP2_ENST00000493172.1_Missense_Mutation_p.L11V|CAP2_ENST00000378990.2_Missense_Mutation_p.L11V	p.L11V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		2	563	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	11					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.31C>G	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367654	0.24771	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.42	4.55	0.56014	Adenylate cyclase-associated CAP, N-terminal (1);CAP, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.94142	3.5	0.32486	N	0.540909	D;D;D;D;D	0.89917	0.997;0.992;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.987;0.992;0.999;0.999	T	0.64875	-0.6304	10	0.87932	D	0	-14.8178	10.5384	0.45018	0.0:0.9097:0.0:0.0903	.	11;11;11;11;11	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	V	11	ENSP00000229922:L11V;ENSP00000417705:L11V;ENSP00000368275:L11V;ENSP00000417208:L11V;ENSP00000418604:L11V	ENSP00000229922:L11V	L	+	1	2	CAP2	17529796	0.996000	0.38824	0.981000	0.43875	0.100000	0.18952	1.073000	0.30691	1.421000	0.47157	0.655000	0.94253	CTG		0.567	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			4	123	0	0	0	1	0	4	123					G	17421817	C	G	17421817	3	3	268	1	0	0	0	0	1	0	0	0	2620	564	20	4	33	4	CAP2	6	17421817	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16108426	17421817	153693250	44	29410											
NKAPL	222698	broad.mit.edu	37	chr6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggattggggaattgggagCgcctgaagtgtgggggccgt	21	5	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(397-399)gCg>gTg		NFKB activating protein-like							99	106	104					6																	28227547		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227547C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.398C>T	6.37:g.28227547C>T	ENSP00000345716:p.Ala133Val						p.A133V	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN			1	450	+			133					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.398C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873503	0.33069	.	.	ENSG00000189134	ENST00000343684	T	0.11930	2.73	5.1	4.23	0.50019	.	0.110110	0.64402	D	0.000008	T	0.04861	0.0131	M	0.79475	2.455	0.09310	N	1	P	0.48998	0.918	B	0.33799	0.17	T	0.31052	-0.9957	10	0.15066	T	0.55	-12.5193	9.4232	0.38563	0.0:0.9047:0.0:0.0953	.	133	Q5M9Q1	NKAPL_HUMAN	V	133	ENSP00000345716:A133V	ENSP00000345716:A133V	A	+	2	0	NKAPL	28335526	0.971000	0.33674	0.007000	0.13788	0.809000	0.45718	2.535000	0.45685	1.530000	0.49136	0.655000	0.94253	GCG		0.537	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			4	148	0	0	0	1	0	4	148					T	28227547	C	T	28227547	3	4	268	1	0	0	0	0	1	0	0	0	10440	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	10805730	28227547	142887520	45	29411											
TRIM15	89870	broad.mit.edu	37	chr6	30138337	30138337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccttgtcaagaagaTccgtgatttccacaggaaaa	8	10	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:30138337T>C	ENST00000376694.4	+	5	1260	c.791T>C	c.(790-792)aTc>aCc	p.I264T	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	264					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAAGAAGATCCGTGATTTC	0.483																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(790-792)aTc>aCc		tripartite motif containing 15							113	110	111					6																	30138337		2203	4300	6503	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138337T>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.791T>C	6.37:g.30138337T>C	ENSP00000365884:p.Ile264Thr					TRIM15_ENST00000376688.1_Intron	p.I264T	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			5	1260	+			264					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.791T>C	CCDS4677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.74|15.74	2.922776|2.922776	0.52653|0.52653	.|.	.|.	ENSG00000204610|ENSG00000204610	ENST00000376695;ENST00000376694|ENST00000433744	T|.	0.55760|.	0.5|.	5.62|5.62	4.46|4.46	0.54185|0.54185	.|.	0.110550|.	0.40144|.	N|.	0.001179|.	T|T	0.40119|0.40119	0.1104|0.1104	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	B|.	0.32031|.	0.352|.	B|.	0.29440|.	0.102|.	T|T	0.33343|0.33343	-0.9872|-0.9872	10|5	0.46703|.	T|.	0.11|.	.|.	8.2697|8.2697	0.31836|0.31836	0.0:0.0902:0.0:0.9098|0.0:0.0902:0.0:0.9098	.|.	264|.	Q9C019|.	TRI15_HUMAN|.	T|P	195;264|101	ENSP00000365884:I264T|.	ENSP00000365884:I264T|.	I|S	+|+	2|1	0|0	TRIM15|TRIM15	30246316|30246316	0.018000|0.018000	0.18449|0.18449	0.877000|0.877000	0.34402|0.34402	0.817000|0.817000	0.46193|0.46193	1.308000|1.308000	0.33528|0.33528	0.956000|0.956000	0.37904|0.37904	0.472000|0.472000	0.43445|0.43445	ATC|TCC		0.483	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		3	89	0	0	0	1	0	3	89					C	30138337	T	C	30138337	3	2	268	1	0	0	0	0	1	0	0	0	16487	1435	50	3	809	3	TRIM15	6	30138337	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	1910790	30138337	140976730	46	29412											
ZNF76	7629	broad.mit.edu	37	chr6	35255527	35255527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagagcaccatcctggccGtacagacagaggtgggcttg	15	11	0	3	rs547214677		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:35255527G>A	ENST00000373953.3	+	5	603	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87I|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					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						CATCCTGGCCGTACAGACAGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19851	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(337-339)Gta>Ata		zinc finger protein 76							106	92	96					6																	35255527		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255527G>A	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.337G>A	6.37:g.35255527G>A	ENSP00000363064:p.Val113Ile					ZNF76_ENST00000339411.5_Missense_Mutation_p.V113I|ZNF76_ENST00000440666.2_Missense_Mutation_p.V87I	p.V113I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	603	+			113					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.337G>A	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839308	0.02692	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.08546	3.1;3.17;3.08;3.16	5.17	4.31	0.51392	.	0.000000	0.38897	N	0.001531	T	0.01627	0.0052	L	0.31420	0.93	0.39574	D	0.969323	B;P;P;P	0.47677	0.05;0.88;0.899;0.861	B;B;B;B	0.38225	0.011;0.113;0.268;0.146	T	0.24870	-1.0148	10	0.05721	T	0.95	.	9.288	0.37769	0.1623:0.0:0.8377:0.0	.	113;113;113;113	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	I	113;113;113;113;87;113	ENSP00000419106:V113I;ENSP00000363064:V113I;ENSP00000392243:V87I;ENSP00000344097:V113I	ENSP00000229405:V113I	V	+	1	0	ZNF76	35363505	1.000000	0.71417	0.887000	0.34795	0.001000	0.01503	4.095000	0.57728	1.411000	0.46957	-0.140000	0.14226	GTA		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		4	56	0	0	0	1	0	4	56					A	35255527	G	A	35255527	3	1	268	1	0	0	0	0	1	0	0	0	18132	1145	40	1	351	1	ZNF76	6	35255527	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5117190	35255527	135859540	47	29413											
TREML2	79865	broad.mit.edu	37	chr6	41160191	41160191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtagacttccacataggGctctggtcttccaggtgggt	12	10	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:41160191G>A	ENST00000483722.1	-	5	1125	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	314					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACATAGGGCTCTGGTCTT	0.587																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(940-942)Ccc>Tcc		triggering receptor expressed on myeloid cells-like 2							114	96	102					6																	41160191		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41160191G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.940C>T	6.37:g.41160191G>A	ENSP00000418767:p.Pro314Ser						p.P314S	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			5	1125	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		314					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.940C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884539	0.33255	.	.	ENSG00000112195	ENST00000483722	T	0.09163	3.01	4.45	1.53	0.23141	.	1.231110	0.05662	N	0.587196	T	0.03871	0.0109	L	0.56769	1.78	0.24546	N	0.994045	B	0.30584	0.286	B	0.25884	0.064	T	0.43212	-0.9405	10	0.62326	D	0.03	0.0017	4.3394	0.11103	0.2019:0.0:0.6137:0.1844	.	314	Q5T2D2	TRML2_HUMAN	S	314	ENSP00000418767:P314S	ENSP00000418767:P314S	P	-	1	0	TREML2	41268169	0.993000	0.37304	0.074000	0.20217	0.077000	0.17291	0.971000	0.29396	0.165000	0.19558	0.462000	0.41574	CCC		0.587	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		6	38	0	0	0	1	0	6	38					A	41160191	G	A	41160191	3	1	268	1	0	0	0	0	1	0	0	0	16470	1203	42	2	29	2	TREML2	6	41160191	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5904664	41160191	129954876	48	29414											
DDX43	55510	broad.mit.edu	37	chr6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacgtacaccgaatagggCgcacgggaagagcagggtaa	14	8	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:74124393C>T	ENST00000370336.4	+	14	1887	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	577	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						CCGAATAGGGCGCACGGGAAG	0.428																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1729-1731)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							121	109	113					6																	74124393		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74124393C>T		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.1729C>T	6.37:g.74124393C>T	ENSP00000359361:p.Arg577Cys					MB21D1_ENST00000370318.1_Intron	p.R577C	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			14	1887	+			577			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1729C>T	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633676	0.47049	.	.	ENSG00000080007	ENST00000370336	D	0.99150	-5.49	4.15	3.28	0.37604	Helicase, C-terminal (3);	0.099513	0.64402	D	0.000002	D	0.99539	0.9835	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98235	1.0485	10	0.87932	D	0	-15.7117	11.7588	0.51890	0.0:0.9113:0.0:0.0886	.	577	Q9NXZ2	DDX43_HUMAN	C	577	ENSP00000359361:R577C	ENSP00000359361:R577C	R	+	1	0	DDX43	74181114	0.996000	0.38824	0.935000	0.37517	0.251000	0.25915	2.561000	0.45905	1.061000	0.40601	0.650000	0.86243	CGC		0.428	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		4	105	0	0	0	1	0	4	105					T	74124393	C	T	74124393	3	4	268	1	0	0	0	0	1	0	0	0	4363	768	27	1	1783	1	DDX43	6	74124393	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	32964202	74124393	96990674	49	29415											
PRDM1	639	broad.mit.edu	37	chr6	106553291	106553291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcttgcccccctacgGcatgaattgtaatggcctga	9	13	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:106553291G>A	ENST00000369096.4	+	5	1490	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	PRDM1_ENST00000369089.3_Missense_Mutation_p.G285D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G383D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	419					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCCTACGGCATGAATTGT	0.587			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1255-1257)gGc>gAc		PR domain containing 1, with ZNF domain							75	58	64					6																	106553291		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553291G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1256G>A	6.37:g.106553291G>A	ENSP00000358092:p.Gly419Asp					PRDM1_ENST00000369089.3_Missense_Mutation_p.G285D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G383D	p.G419D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1490	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	419					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1256G>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407857	0.42715	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07216	3.23;3.21;3.21	5.32	5.32	0.75619	.	0.336949	0.36002	N	0.002858	T	0.04679	0.0127	M	0.63428	1.95	0.37659	D	0.922688	B;B	0.34181	0.236;0.44	B;B	0.30029	0.11;0.075	T	0.27088	-1.0084	10	0.29301	T	0.29	-18.0932	12.8014	0.57588	0.0854:0.0:0.9146:0.0	.	285;419	Q86WM7;O75626	.;PRDM1_HUMAN	D	383;419;383;285	ENSP00000358087:G383D;ENSP00000358092:G419D;ENSP00000358085:G285D	ENSP00000358085:G285D	G	+	2	0	PRDM1	106659984	1.000000	0.71417	0.906000	0.35671	0.966000	0.64601	4.173000	0.58249	2.492000	0.84095	0.655000	0.94253	GGC		0.587	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			8	56	0	0	0	1	0	8	56					A	106553291	G	A	106553291	3	1	268	1	0	0	0	0	1	0	0	0	12450	1203	42	2	1287	2	PRDM1	6	106553291	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32428898	106553291	64561776	50	29416											
TRDN	10345	broad.mit.edu	37	chr6	123759208	123759209	+	Splice_Site	INS	-	-	T													aacaaagaaagtgcaataccINSttttttttccacatcaatgg							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:123759208_123759209insT	ENST00000398178.3	-	12	1071_1072	c.1050_1051insA	c.(1048-1053)aaagag>aaaAgag	p.E351fs	RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Splice_Site_p.E351fs|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	351					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e12+1		triadin																																				SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123759208_123759209insT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1051+1->A	6.37:g.123759216_123759216dupT						TRDN_ENST00000398178.3_Splice_Site_p.A351_splice	p.A351_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	12	1367_1368	-			351					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	INS	ENST00000398178.3	37	c.1051_splice	CCDS55053.1																																																																																				0.337	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Frame_Shift_Ins	4	7						4	7	---	---	---	---	T	123759209	-	T	123759208	8	5	268	1	0	1	1	0	0	0	1	0	16465	695	24	0	1258	0	TRDN	6	123759208	Splice_Site	INS	-	TCGA-HT-7688-01A-11D-2253-08	17205917	123759208	47355859	51	29417											
EPB41L2	2037	broad.mit.edu	37	chr6	131229973	131229976	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													atacttacttctcagttgtcTctttatttctttagcaggat							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:131229973_131229976delTCTT	ENST00000337057.3	-	5	1019_1022	c.838_841delAAGA	c.(838-843)aagagafs	p.KR280fs	EPB41L2_ENST00000527411.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000528282.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525271.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000445890.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527659.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530481.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000368128.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000529208.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525193.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000392427.3_Frame_Shift_Del_p.KR280fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	280	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCAGTTGTCTCTTTATTTCTTTA	0.284																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(838-843)gafs		erythrocyte membrane protein band 4.1-like 2																																				SO:0001589	frameshift_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131229973_131229976delTCTT	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.838_841delAAGA	6.37:g.131229973_131229976delTCTT	ENSP00000338481:p.Lys280fs					EPB41L2_ENST00000527659.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527411.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525271.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000368128.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000530481.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000445890.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000529208.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000392427.3_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000528282.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525193.1_Frame_Shift_Del_p.KR280fs	p.KR280fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	5	1019_1022	-	Breast(56;0.0639)		280			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Frame_Shift_Del	DEL	ENST00000337057.3	37	c.838_841delAAGA	CCDS5141.1																																																																																				0.284	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			16	39						16	39	---	---	---	---	-	131229976	TCTT	-	131229973	7	5	268	1	0	1	0	1	0	0	0	0	5153	1559	54	0	2236	0	EPB41L2	6	131229973	Frame_Shift_Del	DEL	TCTT	TCGA-HT-7688-01A-11D-2253-08	7470765	131229973	39885094	52	29418											
ARID1B	57492	broad.mit.edu	37	chr6	157522373	157522373	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccaccgtcactgccaaatCacatctccagggcgcccagc	8	19	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:157522373C>G	ENST00000350026.5	+	17	4607	c.4606C>G	c.(4606-4608)Cac>Gac	p.H1536D	ARID1B_ENST00000346085.5_Missense_Mutation_p.H1549D|ARID1B_ENST00000275248.4_Missense_Mutation_p.H1531D|ARID1B_ENST00000367148.1_Missense_Mutation_p.H1589D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1536	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGCCAAATCACATCTCCAG	0.597																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4645-4647)Cac>Gac		AT rich interactive domain 1B (SWI1-like)							135	131	132					6																	157522373		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522373C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4606C>G	6.37:g.157522373C>G	ENSP00000055163:p.His1536Asp					ARID1B_ENST00000275248.4_Missense_Mutation_p.H1531D|ARID1B_ENST00000367148.1_Missense_Mutation_p.H1589D|ARID1B_ENST00000350026.5_Missense_Mutation_p.H1536D	p.H1549D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4646	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1536			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4645C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443029	0.63067	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02301	4.66;4.67;4.66;4.66;4.35	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	T	0.19679	-1.0298	10	0.59425	D	0.04	.	18.5459	0.91045	0.0:1.0:0.0:0.0	.	1536;1549;1531	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	D	1549;1536;1589;1531;1058	ENSP00000344546:H1549D;ENSP00000055163:H1536D;ENSP00000356116:H1589D;ENSP00000275248:H1531D;ENSP00000412835:H1058D	ENSP00000275248:H1531D	H	+	1	0	ARID1B	157564065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.354000	0.79424	2.459000	0.83118	0.655000	0.94253	CAC		0.597	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	106	0	0	0	1	0	5	106					G	157522373	C	G	157522373	3	3	268	1	0	0	0	0	1	0	0	0	914	826	29	4	4715	4	ARID1B	6	157522373	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	26292400	157522373	13592694	53	29419											
IL6	3569	broad.mit.edu	37	chr7	22769188	22769188	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttgaggtatacctagAgtacctccagaacagatttg	11	7	0	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:22769188A>T	ENST00000404625.1	+	5	839	c.380A>T	c.(379-381)gAg>gTg	p.E127V	IL6_ENST00000406575.1_Missense_Mutation_p.E127V|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401630.3_Missense_Mutation_p.E104V|IL6_ENST00000420258.2_Missense_Mutation_p.E181V|IL6_ENST00000407492.1_Missense_Mutation_p.E51V|IL6_ENST00000258743.5_Missense_Mutation_p.E127V|IL6_ENST00000401651.1_Missense_Mutation_p.E51V			P05231	IL6_HUMAN	interleukin 6	127					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|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 immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	GTATACCTAGAGTACCTCCAG	0.458																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(379-381)gAg>gTg		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						154	153	153					7																	22769188		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22769188A>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.380A>T	7.37:g.22769188A>T	ENSP00000385675:p.Glu127Val					IL6_ENST00000401630.3_Missense_Mutation_p.E104V|IL6_ENST00000258743.5_Missense_Mutation_p.E127V|IL6_ENST00000420258.2_Missense_Mutation_p.E181V|IL6_ENST00000401651.1_Missense_Mutation_p.E51V|IL6_ENST00000407492.1_Missense_Mutation_p.E51V|IL6_ENST00000406575.1_Missense_Mutation_p.E127V	p.E127V			P05231	IL6_HUMAN			5	839	+			127					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.380A>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077358	0.55753	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000401651;ENST00000258743;ENST00000420258;ENST00000407492;ENST00000401630;ENST00000406575	T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.87	3.49	0.39957	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.204080	0.05394	N	0.539489	T	0.47451	0.1446	L	0.32530	0.975	0.09310	N	1	D;D;D	0.65815	0.992;0.989;0.995	P;D;D	0.65684	0.845;0.916;0.937	T	0.24333	-1.0163	10	0.72032	D	0.01	-1.1131	6.305	0.21133	0.7591:0.1598:0.0811:0.0	.	181;127;127	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	V	127;127;51;127;181;51;104;127	ENSP00000385675:E127V;ENSP00000405150:E127V;ENSP00000385718:E51V;ENSP00000258743:E127V;ENSP00000405994:E181V;ENSP00000385043:E51V;ENSP00000384928:E104V;ENSP00000385227:E127V	ENSP00000258743:E127V	E	+	2	0	IL6	22735713	0.018000	0.18449	0.000000	0.03702	0.002000	0.02628	3.020000	0.49643	0.556000	0.29098	-0.316000	0.08728	GAG		0.458	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		11	65	0	0	0	1	0	11	65					T	22769188	A	T	22769188	3	4	268	1	0	0	0	0	1	0	0	0	7701	304	11	5	394	5	IL6	7	22769188	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		22769188	136369475	54	29420											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124392	31124392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccctctacacggttgGctacagcacatccctcgtca	9	15	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124392G>C	ENST00000304166.4	+	8	768	c.479G>C	c.(478-480)gGc>gCc	p.G160A	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G160A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G139A|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G160A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	160					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACACGGTTGGCTACAGCACA	0.562																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(478-480)gGc>gCc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							298	222	248					7																	31124392		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124392G>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.479G>C	7.37:g.31124392G>C	ENSP00000306620:p.Gly160Ala					ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G139A|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G160A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G160A	p.G160A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			8	768	+			160					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.479G>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991500	0.93106	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	D;T;D;D	0.84660	-1.88;-0.13;-1.88;-1.88	5.8	5.8	0.92144	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	M	0.93062	3.375	0.80722	D	1	P;P;P;P;P	0.52316	0.951;0.951;0.952;0.951;0.951	P;D;P;D;D	0.67900	0.818;0.915;0.898;0.954;0.954	D	0.94848	0.8011	10	0.72032	D	0.01	.	17.5569	0.87894	0.0:0.0:1.0:0.0	.	160;160;160;139;160	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	A	160;139;160;160	ENSP00000306620:G160A;ENSP00000387335:G139A;ENSP00000379514:G160A;ENSP00000386395:G160A	ENSP00000306620:G160A	G	+	2	0	ADCYAP1R1	31090917	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.780000	0.99024	2.735000	0.93741	0.655000	0.94253	GGC		0.562	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		5	189	0	0	0	1	0	5	189					C	31124392	G	C	31124392	3	2	268	1	0	0	0	0	1	0	0	0	303	1203	42	4	505	4	ADCYAP1R1	7	31124392	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	8355204	31124392	128014271	55	29421											
PURB	5814	broad.mit.edu	37	chr7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgactcttcgccgccgcCgctgcccccaccacgtcgct	8	22	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(895-897)Ggc>Agc		purine-rich element binding protein B							72	77	76					7																	44924053		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924053C>T		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.895G>A	7.37:g.44924053C>T	ENSP00000379051:p.Gly299Ser						p.G299S	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	907	-			299					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.895G>A	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923148	0.52653	.	.	ENSG00000146676	ENST00000395699	T	0.29655	1.56	3.06	3.06	0.35304	.	0.137657	0.27549	U	0.018864	T	0.31104	0.0786	N	0.14661	0.345	0.35690	D	0.81476	D	0.89917	1.0	D	0.65684	0.937	T	0.19063	-1.0317	10	0.16896	T	0.51	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	299	Q96QR8	PURB_HUMAN	S	299	ENSP00000379051:G299S	ENSP00000379051:G299S	G	-	1	0	PURB	44890578	0.980000	0.34600	0.998000	0.56505	0.984000	0.73092	3.212000	0.51145	1.998000	0.58463	0.591000	0.81541	GGC		0.587	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		5	212	0	0	0	1	0	5	212					T	44924053	C	T	44924053	3	4	268	1	0	0	0	0	1	0	0	0	12828	652	23	1	47	1	PURB	7	44924053	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13799661	44924053	114214610	56	29422											
PKD1L1	168507	broad.mit.edu	37	chr7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtatggcttgattgTcactgtctgttctgtaatac	10	7	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	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						GGCTTGATTGTCACTGTCTGT	0.468																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(3463-3465)Aca>Gca		polycystic kidney disease 1 like 1							181	140	154					7																	47920383		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920383T>C	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.3463A>G	7.37:g.47920383T>C	ENSP00000289672:p.Thr1155Ala						p.T1155A	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			21	3513	-			1155			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3463A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661784	0.47572	.	.	ENSG00000158683	ENST00000289672	T	0.68765	-0.35	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.316248	0.25741	N	0.028601	T	0.72187	0.3429	L	0.59436	1.845	0.24382	N	0.994781	D	0.56968	0.978	P	0.57620	0.824	T	0.64093	-0.6488	10	0.42905	T	0.14	-10.5118	10.4175	0.44331	0.0:0.0:0.0:1.0	.	1155	Q8TDX9	PK1L1_HUMAN	A	1155	ENSP00000289672:T1155A	ENSP00000289672:T1155A	T	-	1	0	PKD1L1	47886908	0.999000	0.42202	0.843000	0.33291	0.180000	0.23129	3.387000	0.52501	1.792000	0.52537	0.529000	0.55759	ACA		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		3	83	0	0	0	1	0	3	83					C	47920383	T	C	47920383	3	2	268	1	0	0	0	0	1	0	0	0	11964	1667	58	3	5234	3	PKD1L1	7	47920383	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2996330	47920383	111218280	57	29423											
GRB10	2887	broad.mit.edu	37	chr7	50686969	50686969	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaccaccagctcatggtcTtccaagcacctctctgcagg	9	15	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:50686969T>C	ENST00000401949.1	-	9	1144	c.675A>G	c.(673-675)gaA>gaG	p.E225E	GRB10_ENST00000398810.2_Silent_p.E167E|GRB10_ENST00000357271.5_Silent_p.E225E|GRB10_ENST00000406641.1_Silent_p.E167E|GRB10_ENST00000335866.3_Silent_p.E167E|GRB10_ENST00000439599.1_Silent_p.E219E|GRB10_ENST00000402578.1_Silent_p.E167E|GRB10_ENST00000398812.2_Silent_p.E225E|GRB10_ENST00000407526.1_Silent_p.E167E|GRB10_ENST00000402497.1_Silent_p.E167E|GRB10_ENST00000403097.1_Silent_p.E219E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	225	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|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 phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTCATGGTCTTCCAAGCACC	0.443									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(655-657)gaA>gaG		growth factor receptor-bound protein 10							89	91	90					7																	50686969		1988	4171	6159	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50686969T>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.675A>G	7.37:g.50686969T>C						GRB10_ENST00000335866.3_Silent_p.E167E|GRB10_ENST00000439599.1_Silent_p.E219E|GRB10_ENST00000402497.1_Silent_p.E167E|GRB10_ENST00000398812.2_Silent_p.E225E|GRB10_ENST00000407526.1_Silent_p.E167E|GRB10_ENST00000406641.1_Silent_p.E167E|GRB10_ENST00000398810.2_Silent_p.E167E|GRB10_ENST00000357271.5_Silent_p.E225E|GRB10_ENST00000401949.1_Silent_p.E225E|GRB10_ENST00000402578.1_Silent_p.E167E	p.E219E			Q13322	GRB10_HUMAN			8	1437	-	Glioma(55;0.08)|all_neural(89;0.245)		225			Ras-associating.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.657A>G	CCDS43582.1																																																																																				0.443	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			5	101	0	0	0	1	0	5	101					C	50686969	T	C	50686969	2	2	268	1	0	0	0	0	0	0	0	1	6756	1606	56	3		3	GRB10	7	50686969	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2766586	50686969	108451694	58	29424											
TRIM24	8805	broad.mit.edu	37	chr7	138268733	138268733	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgatctttcaaaactgtgctGaattcaatgaggtgaggcta	10	6	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:138268733G>A	ENST00000343526.4	+	18	3147	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E944K			O15164	TIF1A_HUMAN	tripartite motif containing 24	978	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAACTGTGCTGAATTCAATGA	0.388																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2932-2934)Gaa>Aaa		tripartite motif containing 24							75	85	82					7																	138268733		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138268733G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2932G>A	7.37:g.138268733G>A	ENSP00000340507:p.Glu978Lys					TRIM24_ENST00000415680.2_Missense_Mutation_p.E944K	p.E978K			O15164	TIF1A_HUMAN			18	3147	+			978			Bromo.		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2932G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105636	0.37145	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.27557	1.66;1.66	5.85	5.85	0.93711	Bromodomain (6);Bromodomain, conserved site (1);	0.136846	0.64402	D	0.000003	T	0.11367	0.0277	N	0.00754	-1.215	0.58432	D	0.999999	B;B	0.23591	0.088;0.016	B;B	0.24394	0.053;0.031	T	0.30504	-0.9976	10	0.02654	T	1	-26.1559	19.7539	0.96283	0.0:0.0:1.0:0.0	.	978;944	O15164;O15164-2	TIF1A_HUMAN;.	K	978;370;889;944	ENSP00000340507:E978K;ENSP00000390829:E944K	ENSP00000340507:E978K	E	+	1	0	TRIM24	137919273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.976000	0.63785	2.770000	0.95276	0.563000	0.77884	GAA		0.388	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		3	60	0	0	0	1	0	3	60					A	138268733	G	A	138268733	3	1	268	1	0	0	0	0	1	0	0	0	16495	1291	45	2	3002	2	TRIM24	7	138268733	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	87581764	138268733	20869930	59	29425											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884337	143884337	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctgcccccatcccaactCtctggctctttcgcctcctg	6	20	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:143884337C>T	ENST00000378115.2	-	2	1269	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ARHGEF35_ENST00000543357.1_Silent_p.E380E	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	380	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CATCCCAACTCTCTGGCTCTT	0.557																																						ENST00000378115.2																			0				kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						c.(1138-1140)gaG>gaA		Rho guanine nucleotide exchange factor (GEF) 35							21	22	21					7																	143884337		1911	3653	5564	SO:0001819	synonymous_variant	445328							g.chr7:143884337C>T	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"Rho guanine nucleotide exchange factors"	33846	protein-coding gene	gene with protein product			"Rho guanine nucleotide exchange factor (GEF) 5-like"	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1140G>A	7.37:g.143884337C>T						ARHGEF35_ENST00000543357.1_Silent_p.E380E	p.E380E	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN			2	1269	-			380			Glu-rich.		Q6ZUI2	Silent	SNP	ENST00000378115.2	37	c.1140G>A	CCDS34770.1																																																																																				0.557	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		10	76	0	0	0	1	0	10	76					T	143884337	C	T	143884337	2	4	268	1	0	0	0	0	0	0	0	1	905	912	32	2		2	ARHGEF35	7	143884337	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5615604	143884337	15254326	60	29426											
INTS9	55756	broad.mit.edu	37	chr8	28625815	28625815	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atggcccttggctgtgtcctCcaccttaatatcactgaagc	8	13	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:28625815C>G	ENST00000521022.1	-	17	1906	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	INTS9_ENST00000416984.2_Missense_Mutation_p.E588Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E503Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E585Q	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	609					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGTGTCCTCCACCTTAATA	0.502																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1762-1764)Gag>Cag		integrator complex subunit 9							198	190	193					8																	28625815		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28625815C>G	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1825G>C	8.37:g.28625815C>G	ENSP00000429065:p.Glu609Gln					INTS9_ENST00000397363.4_Missense_Mutation_p.E503Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E585Q|INTS9_ENST00000521022.1_Missense_Mutation_p.E609Q	p.E588Q	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	16	2121	-		Ovarian(32;0.0439)	609					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1762G>C	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.039865|4.039865	0.75732|0.75732	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363|ENST00000517383	T;T;T;T|.	0.51817|.	0.69;0.7;0.69;0.7|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73450|0.73450	0.3588|0.3588	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;P|.	0.55800|.	0.973;0.656|.	P;B|.	0.49528|.	0.614;0.275|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.37606|.	T|.	0.19|.	-19.5542|-19.5542	18.5577|18.5577	0.91090|0.91090	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	588;609|.	B7Z6M5;Q9NV88|.	.;INT9_HUMAN|.	Q|C	609;588;453;585;503|100	ENSP00000429065:E609Q;ENSP00000398208:E588Q;ENSP00000430943:E585Q;ENSP00000380520:E503Q|.	ENSP00000380520:E503Q|.	E|W	-|-	1|3	0|0	INTS9|INTS9	28681734|28681734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.703000|7.703000	0.84585|0.84585	2.366000|2.366000	0.80165|0.80165	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.502	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		10	170	0	0	0	1	0	10	170					G	28625815	C	G	28625815	3	3	268	1	0	0	0	0	1	0	0	0	7785	864	30	4	155	4	INTS9	8	28625815	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28625815	117738207	61	29427											
PI15	51050	broad.mit.edu	37	chr8	75737530	75737530	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcactcctgttctcccttCtctgtgaagcaagtaccgtc	8	14	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:75737530C>T	ENST00000260113.2	+	2	225	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16F|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	16						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.L16I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463																																						ENST00000260113.2																			1	Substitution - Missense(1)	p.L16I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(46-48)Ctc>Ttc		peptidase inhibitor 15							237	234	235					8																	75737530		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737530C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.46C>T	8.37:g.75737530C>T	ENSP00000260113:p.Leu16Phe					RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16F|RP11-758M4.4_ENST00000518128.1_RNA	p.L16F	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	225	+	Breast(64;0.137)		16					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.46C>T	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998105	0.35226	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08984	3.03;3.03	4.77	3.89	0.44902	.	0.237373	0.37393	N	0.002112	T	0.08403	0.0209	L	0.51422	1.61	0.45490	D	0.998453	B	0.34015	0.435	B	0.30029	0.11	T	0.18178	-1.0345	10	0.39692	T	0.17	.	10.1927	0.43037	0.0:0.7887:0.136:0.0753	.	16	O43692	PI15_HUMAN	F	16	ENSP00000260113:L16F;ENSP00000428567:L16F	ENSP00000260113:L16F	L	+	1	0	PI15	75900085	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.040000	0.41203	1.365000	0.46057	0.561000	0.74099	CTC		0.463	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		9	256	0	0	0	1	0	9	256					T	75737530	C	T	75737530	3	4	268	1	0	0	0	0	1	0	0	0	11868	913	32	2	48	2	PI15	8	75737530	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	47111715	75737530	70626492	62	29428											
TG	7038	broad.mit.edu	37	chr8	133912511	133912511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgccaggctgcaggcatcGggggctggcacctggtgtgt	17	10	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:133912511G>A	ENST00000220616.4	+	15	3400	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	TG_ENST00000377869.1_Silent_p.S1120S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1120	Thyroglobulin type-1 9. {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)		TGCAGGCATCGGGGGCTGGCA	0.622																																						ENST00000220616.4																			0				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						c.(3358-3360)tcG>tcA		thyroglobulin							60	52	54					8																	133912511		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133912511G>A	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.3360G>A	8.37:g.133912511G>A						TG_ENST00000377869.1_Silent_p.S1120S	p.S1120S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	15	3400	+	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)	1120			Thyroglobulin type-1 9.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3360G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126999	0.01770	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	.	10.2821	0.43545	0.5849:0.263:0.1521:0.0	.	.	.	.	Q	87	.	.	R	+	2	0	TG	133981693	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.924000	0.01565	-3.693000	0.00120	-2.069000	0.00389	CGG		0.622	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	48	0	0	0	1	0	5	48					A	133912511	G	A	133912511	2	1	268	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TG	8	133912511	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	58174981	133912511	12451511	63	29429											
IFNA7	3444	broad.mit.edu	37	chr9	21201904	21201904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgaagagattgaaGgtctgctggatcatctcatg	12	7	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:21201904G>A	ENST00000239347.3	-	1	300	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	87					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|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)|response to virus (GO:0009615)|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(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTGAAGGTCTGCTGGA	0.478																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(259-261)acC>acT		interferon, alpha 7							81	80	80					9																	21201904		2203	4297	6500	SO:0001819	synonymous_variant	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201904G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.261C>T	9.37:g.21201904G>A							p.T87T	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	300	-			87					Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	c.261C>T	CCDS34995.1																																																																																				0.478	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		3	67	0	0	0	1	0	3	67					A	21201904	G	A	21201904	2	1	268	1	0	0	0	0	0	0	0	1	7542	987	35	2		2	IFNA7	9	21201904	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08		21201904	120011527	64	29430											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177705	70177705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccgccgcagaccttggCggtgccctgaacttggtgcc	15	14	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:70177705C>T	ENST00000377420.1	-	1	1110	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P93P(2)		endometrium(5)|lung(2)	7						CAGACCTTGGCGGTGCCCTGA	0.677																																						ENST00000377420.1																			2	Substitution - coding silent(2)	p.P93P(2)	endometrium(2)	endometrium(5)|lung(2)	7						c.(277-279)ccG>ccA		forkhead box D4-like 5							42	66	59					9																	70177705		692	1581	2273	SO:0001819	synonymous_variant	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177705C>T		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.279G>A	9.37:g.70177705C>T							p.P93P	NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN			1	1110	-			93						Silent	SNP	ENST00000377420.1	37	c.279G>A	CCDS47977.1																																																																																				0.677	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		5	270	0	0	0	1	0	5	270					T	70177705	C	T	70177705	2	4	268	1	0	0	0	0	0	0	0	1	6002	755	27	1		1	FOXD4L5	9	70177705	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	48975801	70177705	71035726	65	29431											
RORB	6096	broad.mit.edu	37	chr9	77257632	77257632	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatcaaacagataaagCaagaacctatctatgacctc	6	10	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:77257632C>T	ENST00000396204.2	+	4	571	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	RORB_ENST00000376896.3_Nonsense_Mutation_p.Q180*			Q92753	RORB_HUMAN	RAR-related orphan receptor B	191	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	ACAGATAAAGCAAGAACCTAT	0.468																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(538-540)Caa>Taa		RAR-related orphan receptor B							81	76	78					9																	77257632		2203	4300	6503	SO:0001587	stop_gained	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77257632C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.571C>T	9.37:g.77257632C>T	ENSP00000379507:p.Gln191*					RORB_ENST00000396204.2_Nonsense_Mutation_p.Q191*	p.Q180*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			4	1150	+			191			Hinge (Potential).		Q8WX73	Nonsense_Mutation	SNP	ENST00000396204.2	37	c.538C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.187082	0.97357	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	.	.	.	X	180;191	.	ENSP00000366093:Q180X	Q	+	1	0	RORB	76447452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.719000	0.93026	0.655000	0.94253	CAA		0.468	RORB-201	KNOWN	basic	protein_coding	protein_coding				10	60	0	0	0	1	0	10	60					T	77257632	C	T	77257632	4	4	268	1	0	0	0	0	0	1	0	0	13529	711	25	2	552	2	RORB	9	77257632	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	7079927	77257632	63955799	66	29432											
PCSK5	5125	broad.mit.edu	37	chr9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgtgttgaaggagtgCgaatgctggacggagatgtc	15	6	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78686647C>T	ENST00000545128.1	+	7	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_ENST00000376767.3_Nonsense_Mutation_p.R243*|PCSK5_ENST00000376752.4_Nonsense_Mutation_p.R243*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	243	Peptidase S8.				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						TGAAGGAGTGCGAATGCTGGA	0.512																																						ENST00000545128.1																			0				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						c.(727-729)Cga>Tga		proprotein convertase subtilisin/kexin type 5							136	132	133					9																	78686647		2203	4300	6503	SO:0001587	stop_gained	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686647C>T		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.727C>T	9.37:g.78686647C>T	ENSP00000446280:p.Arg243*					PCSK5_ENST00000376752.4_Nonsense_Mutation_p.R243*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.R243*	p.R243*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1265	+			243			Catalytic.		F5H2G7|Q13527|Q96EP4	Nonsense_Mutation	SNP	ENST00000545128.1	37	c.727C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	42	9.411060	0.99163	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	.	.	.	5.69	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5789	0.68271	0.3833:0.6167:0.0:0.0	.	.	.	.	X	243	.	ENSP00000365943:R243X	R	+	1	2	PCSK5	77876467	0.998000	0.40836	0.559000	0.28332	0.822000	0.46500	3.849000	0.55910	0.271000	0.22005	0.655000	0.94253	CGA		0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	129	0	0	0	1	0	4	129					T	78686647	C	T	78686647	4	4	268	1	0	0	0	0	0	1	0	0	11603	760	27	1	753	1	PCSK5	9	78686647	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	1429015	78686647	62526784	67	29433											
TNC	3371	broad.mit.edu	37	chr9	117849482	117849482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctttccagccaggttcGcagacacagccacatccttc	9	16	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:117849482G>A	ENST00000350763.4	-	3	939	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TNC_ENST00000542877.1_Silent_p.C176C|TNC_ENST00000537320.1_Silent_p.C176C|TNC_ENST00000535648.1_Silent_p.C176C|TNC_ENST00000345230.3_Silent_p.C176C|TNC_ENST00000423613.2_Silent_p.C176C|TNC_ENST00000341037.4_Silent_p.C176C|TNC_ENST00000340094.3_Silent_p.C176C|TNC_ENST00000346706.3_Silent_p.C176C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	176	EGF-like 1; incomplete. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.C176C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCAGGTTCGCAGACACAGC	0.582																																						ENST00000350763.4																			1	Substitution - coding silent(1)	p.C176C(1)	large_intestine(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(526-528)tgC>tgT		tenascin C							82	76	78					9																	117849482		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849482G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.528C>T	9.37:g.117849482G>A						TNC_ENST00000423613.2_Silent_p.C176C|TNC_ENST00000535648.1_Silent_p.C176C|TNC_ENST00000542877.1_Silent_p.C176C|TNC_ENST00000341037.4_Silent_p.C176C|TNC_ENST00000345230.3_Silent_p.C176C|TNC_ENST00000340094.3_Silent_p.C176C|TNC_ENST00000537320.1_Silent_p.C176C|TNC_ENST00000346706.3_Silent_p.C176C	p.C176C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	939	-			176			EGF-like 1; incomplete.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.528C>T	CCDS6811.1																																																																																				0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		4	141	0	0	0	1	0	4	141					A	117849482	G	A	117849482	2	1	268	1	0	0	0	0	0	0	0	1	16267	1079	38	1		1	TNC	9	117849482	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	39162835	117849482	23363949	68	29434											
ASTN2	23245	broad.mit.edu	37	chr9	119413978	119413978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacacctgaaatgagctgGtcatctgacagcatctgggc	10	12	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:119413978G>A	ENST00000313400.4	-	17	3001	c.2901C>T	c.(2899-2901)gaC>gaT	p.D967D	ASTN2_ENST00000358637.4_Silent_p.D19D|ASTN2_ENST00000373996.3_Silent_p.D963D|ASTN2_ENST00000361477.3_Silent_p.D19D|ASTN2_ENST00000288520.5_Silent_p.D68D|ASTN2_ENST00000361209.2_Silent_p.D916D|ASTN2_ENST00000341734.4_Silent_p.D19D			O75129	ASTN2_HUMAN	astrotactin 2	967					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						AAATGAGCTGGTCATCTGACA	0.582																																						ENST00000313400.4																			0				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						c.(2899-2901)gaC>gaT		astrotactin 2							103	91	95					9																	119413978		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119413978G>A	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.2901C>T	9.37:g.119413978G>A						ASTN2_ENST00000358637.4_Silent_p.D19D|ASTN2_ENST00000341734.4_Silent_p.D19D|ASTN2_ENST00000361477.3_Silent_p.D19D|ASTN2_ENST00000361209.2_Silent_p.D916D|ASTN2_ENST00000373996.3_Silent_p.D963D|ASTN2_ENST00000288520.5_Silent_p.D68D	p.D967D			O75129	ASTN2_HUMAN			17	3001	-			967					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2901C>T																																																																																					0.582	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	109	0	0	0	1	0	5	109					A	119413978	G	A	119413978	2	1	268	1	0	0	0	0	0	0	0	1	1065	1252	44	2		2	ASTN2	9	119413978	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1564496	119413978	21799453	69	29435											
NUP188	23511	broad.mit.edu	37	chr9	131760453	131760453	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatataatgcacctgactgaCtctgtggtgcgtcgccagct	11	11	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:131760453C>G	ENST00000372577.2	+	31	3396	c.3375C>G	c.(3373-3375)gaC>gaG	p.D1125E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1125					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						ACCTGACTGACTCTGTGGTGC	0.463																																						ENST00000372577.2																			0				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						c.(3373-3375)gaC>gaG		nucleoporin 188kDa							209	213	212					9																	131760453		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760453C>G	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.3375C>G	9.37:g.131760453C>G	ENSP00000361658:p.Asp1125Glu						p.D1125E	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			31	3396	+			1125					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3375C>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978079	0.34942	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32753	1.44	5.67	-1.64	0.08318	.	0.143965	0.64402	N	0.000008	T	0.23965	0.0580	M	0.62723	1.935	0.30493	N	0.771131	B;B	0.12013	0.005;0.001	B;B	0.11329	0.006;0.003	T	0.09618	-1.0666	10	0.51188	T	0.08	-24.2189	4.9518	0.14019	0.0:0.2149:0.3072:0.4779	.	458;1125	E9PET9;Q5SRE5	.;NU188_HUMAN	E	1014;1125	ENSP00000361658:D1125E	ENSP00000349125:D1014E	D	+	3	2	NUP188	130800274	0.000000	0.05858	0.006000	0.13384	0.724000	0.41520	-0.719000	0.04974	-0.151000	0.11176	0.561000	0.74099	GAC		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	266	0	0	0	1	0	4	266					G	131760453	C	G	131760453	3	3	268	1	0	0	0	0	1	0	0	0	10758	564	20	4	3497	4	NUP188	9	131760453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	12346475	131760453	9452978	70	29436											
SOHLH1	402381	broad.mit.edu	37	chr9	138589373	138589373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcccgctggacgctcccGtcccagggtctggcacacct	12	17	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:138589373G>A	ENST00000298466.5	-	4	506	c.446C>T	c.(445-447)aCg>aTg	p.T149M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.T149M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	149					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)		GGACGCTCCCGTCCCAGGGTC	0.597																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(445-447)aCg>aTg		spermatogenesis and oogenesis specific basic helix-loop-helix 1							64	55	58					9																	138589373		2201	4300	6501	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138589373G>A	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.446C>T	9.37:g.138589373G>A	ENSP00000298466:p.Thr149Met					SOHLH1_ENST00000425225.1_Missense_Mutation_p.T149M	p.T149M	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	4	506	-		Myeloproliferative disorder(178;0.0511)	149					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.446C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731698	0.30684	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.32988	1.43;1.45	4.24	-7.09	0.01553	.	2.210090	0.02532	N	0.093742	T	0.21550	0.0519	L	0.34521	1.04	0.09310	N	1	B;B	0.24675	0.109;0.066	B;B	0.22386	0.039;0.012	T	0.14587	-1.0467	10	0.36615	T	0.2	-0.3747	8.994	0.36041	0.6587:0.1138:0.2276:0.0	.	149;149	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	M	149	ENSP00000298466:T149M;ENSP00000404438:T149M	ENSP00000298466:T149M	T	-	2	0	SOHLH1	137729194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.705000	0.01896	-1.622000	0.01560	-0.258000	0.10820	ACG		0.597	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		3	41	0	0	0	1	0	3	41					A	138589373	G	A	138589373	3	1	268	1	0	0	0	0	1	0	0	0	14923	1145	40	1	778	1	SOHLH1	9	138589373	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6828920	138589373	2624058	71	29437											
MYO3A	53904	broad.mit.edu	37	chr10	26463288	26463288	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttacaagagaaggcagcaGttgaggaaggacaagatgtc	15	5	0	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:26463288G>T	ENST00000265944.5	+	30	4261	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1365	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGGCAGCAGTTGAGGAAGG	0.438																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4093-4095)caG>caT		myosin IIIA							147	134	139					10																	26463288		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463288G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4095G>T	10.37:g.26463288G>T	ENSP00000265944:p.Gln1365His					MYO3A_ENST00000543632.1_Intron	p.Q1365H	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4261	+			1365			IQ 3.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4095G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790568	0.50102	.	.	ENSG00000095777	ENST00000265944	T	0.78816	-1.21	5.73	-0.0819	0.13701	.	0.265537	0.43579	D	0.000547	T	0.79203	0.4406	L	0.39898	1.24	0.39229	D	0.963647	D	0.67145	0.996	D	0.64877	0.93	T	0.77619	-0.2520	10	0.72032	D	0.01	.	10.6713	0.45760	0.5169:0.0:0.4831:0.0	.	1365	Q8NEV4	MYO3A_HUMAN	H	1365	ENSP00000265944:Q1365H	ENSP00000265944:Q1365H	Q	+	3	2	MYO3A	26503294	0.059000	0.20769	0.023000	0.16930	0.152000	0.21847	-0.176000	0.09811	-0.311000	0.08754	-0.253000	0.11424	CAG		0.438	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		19	97	1	0	1.96292e-10	1	2.01325e-10	19	97					T	26463288	G	T	26463288	3	4	268	1	0	0	0	0	1	0	0	0	10076	1020	36	4	4205	4	MYO3A	10	26463288	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26463288	109071459	72	29438											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486405	37486405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaacaaacattgagaGcaggtacatttttcaatgta	8	5	1	3	rs373533252		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:37486405G>A	ENST00000602533.1	+	29	2644	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A968T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A849T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	905					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACATTGAGAGCAGGTACATT	0.328																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2902-2904)Gca>Aca		ankyrin repeat domain 30A		G	THR/ALA	1,3635		0,1,1817	112	98	102		2545	-2.7	0	10		102	1,8157		0,1,4078	no	missense	ANKRD30A	NM_052997.2	58	0,2,5895	AA,AG,GG		0.0123,0.0275,0.017	probably-damaging	849/1342	37486405	2,11792	1818	4079	5897	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486405G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2545G>A	10.37:g.37486405G>A	ENSP00000473551:p.Ala849Thr					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A849T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A849T	p.A968T			Q9BXX3	AN30A_HUMAN			35	3001	+			1010					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2902G>A		.	.	.	.	.	.	.	.	.	.	.	2.013	-0.426563	0.04701	2.75E-4	1.23E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.10668	2.85;2.85	1.36	-2.73	0.05950	.	.	.	.	.	T	0.07503	0.0189	N	0.11201	0.11	0.09310	N	1	P	0.49447	0.924	P	0.57776	0.827	T	0.08207	-1.0733	9	0.08837	T	0.75	.	2.4593	0.04537	0.0:0.2204:0.2981:0.4815	.	905	Q9BXX3	AN30A_HUMAN	T	849;968	ENSP00000354432:A849T;ENSP00000363792:A968T	ENSP00000354432:A849T	A	+	1	0	ANKRD30A	37526411	0.694000	0.27738	0.010000	0.14722	0.005000	0.04900	0.084000	0.14891	-1.101000	0.03027	-1.434000	0.01081	GCA		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	69	0	0	0	1	0	7	69					A	37486405	G	A	37486405	3	1	268	1	0	0	0	0	1	0	0	0	658	971	34	2	2659	2	ANKRD30A	10	37486405	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	11023117	37486405	98048342	73	29439											
NCOA4	8031	broad.mit.edu	37	chr10	51585027	51585029	+	In_Frame_Del	DEL	AAG	AAG	-													tgaatgaccacttggaggccAagaaaccattgtccaccccc							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:51585027_51585029delAAG	ENST00000443446.1	+	8	1355_1357	c.1126_1128delAAG	c.(1126-1128)aagdel	p.K377del	NCOA4_ENST00000414907.2_In_Frame_Del_p.K211del|NCOA4_ENST00000344348.6_In_Frame_Del_p.K377del|NCOA4_ENST00000430396.2_In_Frame_Del_p.K277del|NCOA4_ENST00000374082.1_In_Frame_Del_p.K377del|NCOA4_ENST00000438493.1_In_Frame_Del_p.K393del|NCOA4_ENST00000452682.1_In_Frame_Del_p.K393del|NCOA4_ENST00000374087.4_In_Frame_Del_p.K377del	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	377					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						CTTGGAGGCCAAGAAACCATTGT	0.522			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1174-1176)del		nuclear receptor coactivator 4																																				SO:0001651	inframe_deletion	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51585027_51585029delAAG	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.1126_1128delAAG	10.37:g.51585027_51585029delAAG	ENSP00000390713:p.Lys377del					NCOA4_ENST00000344348.6_In_Frame_Del_p.K377del|NCOA4_ENST00000374082.1_In_Frame_Del_p.K377del|NCOA4_ENST00000443446.1_In_Frame_Del_p.K377del|NCOA4_ENST00000374087.4_In_Frame_Del_p.K377del|NCOA4_ENST00000414907.2_In_Frame_Del_p.K211del|NCOA4_ENST00000430396.2_In_Frame_Del_p.K277del|NCOA4_ENST00000438493.1_In_Frame_Del_p.K393del	p.K393del	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			9	1426_1428	+			377					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	In_Frame_Del	DEL	ENST00000443446.1	37	c.1174_1176delAAG	CCDS7237.1																																																																																				0.522	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		13	22						13	22	---	---	---	---	-	51585029	AAG	-	51585027	7	5	268	1	0	1	0	1	0	0	0	0	10231	131	5	0	1204	0	NCOA4	10	51585027	In_Frame_Del	DEL	AAG	TCGA-HT-7688-01A-11D-2253-08	14098622	51585027	83949720	74	29440											
MBL2	4153	broad.mit.edu	37	chr10	54531233	54531233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccttttctcccttggTgccatcacgcccatctttgc	5	18	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:54531233T>C	ENST00000373968.3	-	1	227	c.163A>G	c.(163-165)Acc>Gcc	p.T55A		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	55	Collagen-like.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCCTTGGTGCCATCACGC	0.537																																						ENST00000373968.3																			0				breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(163-165)Acc>Gcc		mannose-binding lectin (protein C) 2, soluble							137	123	128					10																	54531233		2203	4300	6503	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531233T>C	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.163A>G	10.37:g.54531233T>C	ENSP00000363079:p.Thr55Ala						p.T55A	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN			1	227	-			55			Collagen-like.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.163A>G	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.853802	0.00558	.	.	ENSG00000165471	ENST00000373968	D	0.83506	-1.73	3.99	-5.58	0.02512	.	2.420760	0.01340	N	0.011544	T	0.51702	0.1690	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.54316	-0.8312	10	0.11794	T	0.64	0.3178	0.1657	0.00108	0.2504:0.1803:0.2482:0.3211	.	55	P11226	MBL2_HUMAN	A	55	ENSP00000363079:T55A	ENSP00000363079:T55A	T	-	1	0	MBL2	54201239	0.235000	0.23794	0.001000	0.08648	0.495000	0.33615	-0.219000	0.09228	-1.235000	0.02545	-1.093000	0.02169	ACC		0.537	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		10	81	0	0	0	1	0	10	81					C	54531233	T	C	54531233	3	2	268	1	0	0	0	0	1	0	0	0	9350	1696	59	3	599	3	MBL2	10	54531233	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2946206	54531233	81003514	75	29441											
ARID5B	84159	broad.mit.edu	37	chr10	63845531	63845531	+	Frame_Shift_Del	DEL	A	A	-													tgcctccaatcaaacctcggAaacaggagaacagttcacag							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:63845531delA	ENST00000279873.7	+	9	1680	c.1270delA	c.(1270-1272)aaafs	p.K424fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K181fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	424					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)					CAAACCTCGGAAACAGGAGAA	0.358																																						ENST00000279873.7																			0				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						c.(1270-1272)aafs		AT rich interactive domain 5B (MRF1-like)							124	131	129					10																	63845531		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63845531delA	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.1270delA	10.37:g.63845531delA	ENSP00000279873:p.Lys424fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K181fs	p.K424fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			9	1680	+	Prostate(12;0.016)|all_hematologic(501;0.215)		424					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.1270delA	CCDS31208.1																																																																																				0.358	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		58	92						58	92	---	---	---	---	-	63845531	A	-	63845531	7	5	268	1	0	1	0	1	0	0	0	0	922	247	9	0	1304	0	ARID5B	10	63845531	Frame_Shift_Del	DEL	A	TCGA-HT-7688-01A-11D-2253-08	9314298	63845531	71689216	76	29442											
KIAA0913	23053	broad.mit.edu	37	chr10	75557692	75557693	+	Frame_Shift_Del	DEL	AG	AG	-													ttcacacatccatcttcctcAgggggccaccagggtcctca							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:75557692_75557693delAG	ENST00000605216.1	+	19	4018_4019	c.3801_3802delAG	c.(3799-3804)tcagggfs	p.G1269fs	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.G1274fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.G1269fs|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.G1236fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.G1274fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1269							zinc ion binding (GO:0008270)										CATCTTCCTCAGGGGGCCACCA	0.564																																						ENST00000604729.1																			0											c.(3814-3819)tcggfs		zinc finger, SWIM-type containing 8																																				SO:0001589	frameshift_variant	23053							g.chr10:75557692_75557693delAG	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.3801_3802delAG	10.37:g.75557692_75557693delAG	ENSP00000474748:p.Gly1269fs					ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.SG1267fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.SG1234fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.SG1267fs|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.SG1272fs	p.SG1272fs							19	4113_4114	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.3816_3817delAG																																																																																					0.564	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		30	211						30	211	---	---	---	---	-	75557693	AG	-	75557692	7	5	268	1	0	1	0	1	0	0	0	0	8200	175	7	0	3890	0	KIAA0913	10	75557692	Frame_Shift_Del	DEL	AG	TCGA-HT-7688-01A-11D-2253-08	11712161	75557692	59977055	77	29443											
CYP2C19	1557	broad.mit.edu	37	chr10	96535297	96535297	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgagaaaaaccaaggGtgggtgaacatactctctat	12	6	1	2	rs77576043		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96535297G>C	ENST00000371321.3	+	3	563		c.e3+1		CYP2C19_ENST00000464755.1_Splice_Site	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AAAACCAAGGGTGGGTGAACA	0.498																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.e3+1		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						161	156	158					10																	96535297		2203	4300	6503	SO:0001630	splice_region_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535297G>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"Cytochrome P450s"	2621	protein-coding gene	gene with protein product		124020	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.481+1G>C	10.37:g.96535297G>C						CYP2C19_ENST00000464755.1_Splice_Site		NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	3	563	+		Colorectal(252;0.09)						P33259|Q8WZB1|Q8WZB2|Q9UCD4	Splice_Site	SNP	ENST00000371321.3	37		CCDS7436.1	.	.	.	.	.	.	.	.	.	.	-	8.181	0.793795	0.16327	.	.	ENSG00000165841	ENST00000371321	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2773	0.37707	0.0:0.0:0.7845:0.2155	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C19	96525287	1.000000	0.71417	0.507000	0.27676	0.196000	0.23810	7.725000	0.84808	1.888000	0.54679	0.405000	0.27470	.		0.498	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	Intron	9	150	0	0	0	1	0	9	150					C	96535297	G	C	96535297	5	2	268	1	0	0	0	0	0	0	1	0	4166	1275	44	4	492	4	CYP2C19	10	96535297	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	20977605	96535297	38999450	78	29444											
CYP2C8	1558	broad.mit.edu	37	chr10	96824603	96824603	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttttcattgaatcttTtcatcagggtgagaaaattc	8	5	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96824603T>A	ENST00000371270.3	-	4	690	c.596A>T	c.(595-597)aAa>aTa	p.K199I	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K97I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.K113I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	199					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ATTGAATCTTTTCATCAGGGT	0.408																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(595-597)aAa>aTa		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						79	76	77					10																	96824603		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96824603T>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.596A>T	10.37:g.96824603T>A	ENSP00000360317:p.Lys199Ile					CYP2C8_ENST00000535898.1_Missense_Mutation_p.K97I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.K113I	p.K199I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	4	690	-		Colorectal(252;0.0397)	199					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.596A>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359634	0.41801	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.70749	-0.51;-0.51;-0.51	4.45	-0.583	0.11706	.	1.190660	0.06324	U	0.705045	T	0.71745	0.3376	M	0.80183	2.485	0.09310	N	1	B;B;B;B	0.21520	0.057;0.039;0.021;0.011	B;B;B;B	0.28139	0.074;0.086;0.078;0.054	T	0.62186	-0.6907	10	0.56958	D	0.05	.	7.5644	0.27870	0.0:0.3407:0.0:0.6593	.	113;97;167;199	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	I	199;166;97;113	ENSP00000360317:K199I;ENSP00000445062:K97I;ENSP00000442343:K113I	ENSP00000360317:K199I	K	-	2	0	CYP2C8	96814593	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	0.716000	0.25836	0.015000	0.14971	0.260000	0.18958	AAA		0.408	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	64	0	0	0	1	0	4	64					A	96824603	T	A	96824603	3	1	268	1	0	0	0	0	1	0	0	0	4167	1841	64	5	900	5	CYP2C8	10	96824603	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	289306	96824603	38710144	79	29445											
C10orf79	80217	broad.mit.edu	37	chr10	105990460	105990460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgttagttgccatgacGcccacaattccattactaca	8	11	0	1	rs374123628		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:105990460G>A	ENST00000357060.3	-	2	322	c.207C>T	c.(205-207)ggC>ggT	p.G69G	WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.G69G|WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000278064.2_5'UTR	NM_025145.5	NP_079421.5												p.G69G(2)		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						TTGCCATGACGCCCACAATTC	0.408																																						ENST00000357060.3																			2	Substitution - coding silent(2)	p.G69G(2)	large_intestine(2)	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						c.(205-207)ggC>ggT		WD repeat domain 96		G		0,4406		0,0,2203	144	132	136		207	1.3	1	10		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR96	NM_025145.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		69/1666	105990460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105990460G>A																												ENST00000357060.3:c.207C>T	10.37:g.105990460G>A						WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.G69G|WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000278064.2_5'UTR	p.G69G	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			2	322	-			69						Silent	SNP	ENST00000357060.3	37	c.207C>T	CCDS31281.1																																																																																				0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	68	0	0	0	1	0	4	68					A	105990460	G	A	105990460	2	1	268	1	0	0	0	0	0	0	0	1	1618	1074	38	1		1	C10orf79	10	105990460	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	9165857	105990460	29544287	80	29446											
MKI67	4288	broad.mit.edu	37	chr10	129923863	129923863	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaagcaggtgctgagGctcaggggaaagtggggacc	16	9	1	1	rs549241601		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:129923863G>C	ENST00000368654.3	-	2	444	c.69C>G	c.(67-69)agC>agG	p.S23R	MKI67_ENST00000368653.3_Missense_Mutation_p.S23R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	23					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)				AGGTGCTGAGGCTCAGGGGAA	0.517																																						ENST00000368654.3																			0				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						c.(67-69)agC>agG		marker of proliferation Ki-67							79	91	87					10																	129923863		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129923863G>C	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.69C>G	10.37:g.129923863G>C	ENSP00000357643:p.Ser23Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.S23R	p.S23R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			2	444	-		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)	23					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.69C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492886	0.44352	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652;ENST00000538447	T;T	0.01335	5.0;5.08	3.91	0.642	0.17765	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.366803	0.24226	N	0.040393	T	0.02571	0.0078	L	0.34521	1.04	0.09310	N	1	D;P	0.71674	0.998;0.936	D;B	0.65684	0.937;0.262	T	0.47446	-0.9117	9	.	.	.	.	3.6319	0.08135	0.4371:0.1961:0.3669:0.0	.	23;23	P46013-2;P46013	.;KI67_HUMAN	R	23	ENSP00000357643:S23R;ENSP00000357642:S23R	.	S	-	3	2	MKI67	129813853	1.000000	0.71417	0.153000	0.22517	0.272000	0.26649	0.889000	0.28282	0.039000	0.15632	0.655000	0.94253	AGC		0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		11	104	0	0	0	1	0	11	104					C	129923863	G	C	129923863	3	2	268	1	0	0	0	0	1	0	0	0	9598	1194	42	4	9757	4	MKI67	10	129923863	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	23933403	129923863	5610884	81	29447											
DCHS1	8642	broad.mit.edu	37	chr11	6645159	6645159	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtgactggcacgactgagCtttggggtggctgcccacgg	16	11	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645159C>G	ENST00000299441.3	-	21	8159	c.7748G>C	c.(7747-7749)aGc>aCc	p.S2583T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2583	Cadherin 24. {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)		CACGACTGAGCTTTGGGGTGG	0.537																																						ENST00000299441.3																			0				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						c.(7747-7749)aGc>aCc		dachsous cadherin-related 1							109	98	102					11																	6645159		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645159C>G	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.7748G>C	11.37:g.6645159C>G	ENSP00000299441:p.Ser2583Thr						p.S2583T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8159	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2583			Cadherin 24.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7748G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848311	0.32699	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.03	5.03	0.67393	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000052	T	0.56156	0.1966	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.52305	-0.8593	10	0.32370	T	0.25	.	17.1275	0.86718	0.0:1.0:0.0:0.0	.	2583	Q96JQ0	PCD16_HUMAN	T	2583	ENSP00000299441:S2583T	ENSP00000299441:S2583T	S	-	2	0	DCHS1	6601735	1.000000	0.71417	0.987000	0.45799	0.053000	0.15095	5.887000	0.69751	2.626000	0.88956	0.650000	0.86243	AGC		0.537	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	163	0	0	0	1	0	9	163					G	6645159	C	G	6645159	3	3	268	1	0	0	0	0	1	0	0	0	4287	797	28	4	2152	4	DCHS1	11	6645159	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		6645159	128361357	82	29448											
DCHS1	8642	broad.mit.edu	37	chr11	6645181	6645181	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggggtggctgcccacggtCagctgcagccactgttagat	14	11	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645181C>G	ENST00000299441.3	-	21	8137	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2576	Cadherin 24. {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)		TGCCCACGGTCAGCTGCAGCC	0.562																																						ENST00000299441.3																			0				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						c.(7726-7728)Gac>Cac		dachsous cadherin-related 1							72	68	69					11																	6645181		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645181C>G	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.7726G>C	11.37:g.6645181C>G	ENSP00000299441:p.Asp2576His						p.D2576H	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8137	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2576			Cadherin 24.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7726G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578145	0.28180	.	.	ENSG00000166341	ENST00000299441	T	0.68903	-0.36	5.03	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000204	D	0.86661	0.5986	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90164	0.4230	10	0.87932	D	0	.	12.3353	0.55062	0.0:0.9181:0.0:0.0819	.	2576	Q96JQ0	PCD16_HUMAN	H	2576	ENSP00000299441:D2576H	ENSP00000299441:D2576H	D	-	1	0	DCHS1	6601757	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	7.629000	0.83207	1.363000	0.46019	-0.145000	0.13849	GAC		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	111	0	0	0	1	0	5	111					G	6645181	C	G	6645181	3	3	268	1	0	0	0	0	1	0	0	0	4287	826	29	4	2174	4	DCHS1	11	6645181	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	22	6645181	128361335	83	29449											
EXPH5	23086	broad.mit.edu	37	chr11	108381248	108381248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttcttcacatgctttccGttctcactcaacctgctttc	4	14	4	0	rs201992262		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:108381248G>A	ENST00000265843.4	-	6	5096	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.N1586N|EXPH5_ENST00000443411.1_Silent_p.N1474N	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1662					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)		CATGCTTTCCGTTCTCACTCA	0.473																																						ENST00000265843.4																			0				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						c.(4984-4986)aaC>aaT		exophilin 5							204	198	200					11																	108381248		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381248G>A		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.4986C>T	11.37:g.108381248G>A						EXPH5_ENST00000428840.1_Silent_p.N1586N|EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000443411.1_Silent_p.N1474N	p.N1662N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	6	5096	-		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)	1662					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4986C>T	CCDS8341.1																																																																																				0.473	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		7	187	0	0	0	1	0	7	187					A	108381248	G	A	108381248	2	1	268	1	0	0	0	0	0	0	0	1	5322	1136	40	1		1	EXPH5	11	108381248	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	101736067	108381248	26625268	84	29450											
SORL1	6653	broad.mit.edu	37	chr11	121429381	121429381	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgctgcctatcacctGgtgtctgaggatgtgaagtg	14	8	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:121429381G>C	ENST00000260197.7	+	20	2874	c.2745G>C	c.(2743-2745)ctG>ctC	p.L915L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	915					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)		CCTATCACCTGGTGTCTGAGG	0.532																																						ENST00000260197.7																			0				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						c.(2743-2745)ctG>ctC		sortilin-related receptor, L(DLR class) A repeats containing							235	207	216					11																	121429381		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429381G>C	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.2745G>C	11.37:g.121429381G>C							p.L915L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2874	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	915					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.2745G>C	CCDS8436.1																																																																																				0.532	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		8	200	0	0	0	1	0	8	200					C	121429381	G	C	121429381	2	2	268	1	0	0	0	0	0	0	0	1	14934	1335	47	4		4	SORL1	11	121429381	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	13048133	121429381	13577135	85	29451											
CDON	50937	broad.mit.edu	37	chr11	125891236	125891237	+	Frame_Shift_Del	DEL	AA	AA	-													caaaagagaggagttgagagAaagaattgtcagagtcccct							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:125891236_125891237delAA	ENST00000392693.3	-	3	382_383	c.255_256delTT	c.(253-258)ctttctfs	p.S86fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.S86fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	86	Ig-like C2-type 1.				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)		GAGTTGAGAGAAAGAATTGTCA	0.475																																						ENST00000392693.3																			0				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						c.(253-258)ctctfs		cell adhesion associated, oncogene regulated																																				SO:0001589	frameshift_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125891236_125891237delAA	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.255_256delTT	11.37:g.125891236_125891237delAA	ENSP00000376458:p.Ser86fs					CDON_ENST00000263577.7_Frame_Shift_Del_p.LS85fs	p.LS85fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	3	382_383	-	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)	85			Ig-like C2-type 1.		O14631	Frame_Shift_Del	DEL	ENST00000392693.3	37	c.255_256delTT	CCDS58192.1																																																																																				0.475	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		19	74						19	74	---	---	---	---	-	125891237	AA	-	125891236	7	5	268	1	0	1	0	1	0	0	0	0	3170	246	9	0	3610	0	CDON	11	125891236	Frame_Shift_Del	DEL	AA	TCGA-HT-7688-01A-11D-2253-08	4461855	125891236	9115280	86	29452											
RPUSD4	84881	broad.mit.edu	37	chr11	126075477	126075477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactttcaccattttcccatCgtccatgcggtagctcgggg	9	14	1	0	rs143531642		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:126075477C>T	ENST00000298317.4	-	5	735	c.682G>A	c.(682-684)Gat>Aat	p.D228N	RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	228					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTTCCCATCGTCCATGCGG	0.557																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(682-684)Gat>Aat		RNA pseudouridylate synthase domain containing 4							121	109	113					11																	126075477		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075477C>T	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.682G>A	11.37:g.126075477C>T	ENSP00000298317:p.Asp228Asn					RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'UTR	p.D228N	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	735	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	228					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.682G>A	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	3.700	-0.061676	0.07317	.	.	ENSG00000165526	ENST00000298317	T	0.14516	2.5	5.72	-0.435	0.12279	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.902722	0.09786	N	0.756001	T	0.12135	0.0295	L	0.48218	1.51	0.23411	N	0.997736	B	0.06786	0.001	B	0.04013	0.001	T	0.35226	-0.9797	10	0.27785	T	0.31	-1.3144	9.4769	0.38878	0.0:0.5043:0.0:0.4957	.	228	Q96CM3	RUSD4_HUMAN	N	228	ENSP00000298317:D228N	ENSP00000298317:D228N	D	-	1	0	RPUSD4	125580687	0.000000	0.05858	0.223000	0.23860	0.107000	0.19398	-0.024000	0.12435	-0.096000	0.12329	-1.004000	0.02495	GAT		0.557	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		8	102	0	0	0	1	0	8	102					T	126075477	C	T	126075477	3	4	268	1	0	0	0	0	1	0	0	0	13669	884	31	1	463	1	RPUSD4	11	126075477	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	184241	126075477	8931039	87	29453											
ITPR2	3709	broad.mit.edu	37	chr12	26985677	26985677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtacagggacacgatgTcccctatgtagaggaagctg	13	11	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:26985677T>C	ENST00000381340.3	-	1	454	c.38A>G	c.(37-39)gAc>gGc	p.D13G	ITPR2_ENST00000242737.5_Missense_Mutation_p.D13G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	13					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGACACGATGTCCCCTATGTA	0.622																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(37-39)gAc>gGc		inositol 1,4,5-trisphosphate receptor, type 2							88	102	97					12																	26985677		2189	4300	6489	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26985677T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.38A>G	12.37:g.26985677T>C	ENSP00000370744:p.Asp13Gly					ITPR2_ENST00000242737.5_Missense_Mutation_p.D13G	p.D13G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			1	454	-	Colorectal(261;0.0847)		13					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.38A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793047	0.90453	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.99121	-5.45;-5.45	4.08	4.08	0.47627	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.048843	0.85682	D	0.000000	D	0.99342	0.9769	M	0.92833	3.35	0.58432	D	0.999992	D;D	0.71674	0.998;0.967	D;P	0.74674	0.984;0.847	D	0.98771	1.0728	10	0.72032	D	0.01	.	12.4962	0.55929	0.0:0.0:0.0:1.0	.	13;13	Q14571-2;Q14571	.;ITPR2_HUMAN	G	13	ENSP00000370744:D13G;ENSP00000242737:D13G	ENSP00000242737:D13G	D	-	2	0	ITPR2	26876944	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.958000	0.76025	1.851000	0.53745	0.477000	0.44152	GAC		0.622	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		3	104	0	0	0	1	0	3	104					C	26985677	T	C	26985677	3	2	268	1	0	0	0	0	1	0	0	0	7921	1667	58	3	8295	3	ITPR2	12	26985677	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		26985677	106866218	88	29454											
C12orf40	283461	broad.mit.edu	37	chr12	40076514	40076514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagactacattactgaaaAacactcaatacagcatattt	4	9	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:40076514A>C	ENST00000324616.5	+	8	942	c.788A>C	c.(787-789)aAa>aCa	p.K263T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K263T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K186T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	263										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTACTGAAAAACACTCAATA	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(787-789)aAa>aCa		chromosome 12 open reading frame 40							134	135	134					12																	40076514		1840	4087	5927	SO:0001583	missense	283461							g.chr12:40076514A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.788A>C	12.37:g.40076514A>C	ENSP00000317671:p.Lys263Thr					C12orf40_ENST00000405531.3_Missense_Mutation_p.K263T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K186T	p.K263T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	942	+			263					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.788A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717650	0.30413	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.59083	0.29;0.31	5.26	2.91	0.33838	.	0.925820	0.09127	N	0.844909	T	0.43211	0.1237	L	0.32530	0.975	0.09310	N	1	B	0.27882	0.192	B	0.25759	0.063	T	0.41502	-0.9505	10	0.72032	D	0.01	.	3.6804	0.08308	0.6404:0.2149:0.1447:0.0	.	263	Q86WS4	CL040_HUMAN	T	263;186;263	ENSP00000383897:K263T;ENSP00000317671:K263T	ENSP00000317671:K263T	K	+	2	0	C12orf40	38362781	0.337000	0.24766	0.004000	0.12327	0.012000	0.07955	1.736000	0.38187	1.055000	0.40461	0.482000	0.46254	AAA		0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		3	79	0	0	0	1	0	3	79					C	40076514	A	C	40076514	3	2	268	1	0	0	0	0	1	0	0	0	1686	14	1	5	818	5	C12orf40	12	40076514	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	13090837	40076514	93775381	89	29455											
HOXC4	3221	broad.mit.edu	37	chr12	54447735	54447735	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagctcgtatttgatggactCtaactacatcgatccgaaat	8	9	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54447735C>G	ENST00000430889.2	+	1	75	c.29C>G	c.(28-30)tCt>tGt	p.S10C	HOXC4_ENST00000609810.1_Missense_Mutation_p.S10C|HOXC4_ENST00000303406.4_Missense_Mutation_p.S10C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	10					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)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTGATGGACTCTAACTACATC	0.423																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(28-30)tCt>tGt		homeobox C4							93	92	92					12																	54447735		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447735C>G		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.29C>G	12.37:g.54447735C>G	ENSP00000399808:p.Ser10Cys					HOXC4_ENST00000303406.4_Missense_Mutation_p.S10C	p.S10C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			1	75	+			10						Missense_Mutation	SNP	ENST00000430889.2	37	c.29C>G	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650783	0.67472	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.49432	0.78;0.78	3.41	3.41	0.39046	.	0.066141	0.64402	D	0.000008	T	0.68476	0.3005	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.75365	-0.3343	10	0.87932	D	0	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	10	P09017	HXC4_HUMAN	C	10	ENSP00000305973:S10C;ENSP00000399808:S10C	ENSP00000305973:S10C	S	+	2	0	HOXC4	52734002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.240000	0.78192	2.187000	0.69744	0.462000	0.41574	TCT		0.423	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			10	70	0	0	0	1	0	10	70					G	54447735	C	G	54447735	3	3	268	1	0	0	0	0	1	0	0	0	7313	913	32	4	31	4	HOXC4	12	54447735	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	14371221	54447735	79404160	90	29456											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917243	54917243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaccaggaagcagagGcagactcccagaaaaggaga	12	8	0	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54917243G>A	ENST00000293373.6	+	19	2023	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	NCKAP1L_ENST00000545638.2_Silent_p.R598R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	648					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAAGCAGAGGCAGACTCCCA	0.522																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1942-1944)agG>agA		NCK-associated protein 1-like							114	119	117					12																	54917243		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917243G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1944G>A	12.37:g.54917243G>A						NCKAP1L_ENST00000545638.2_Silent_p.R598R	p.R648R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			19	2023	+			648					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.1944G>A	CCDS31813.1																																																																																				0.522	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	96	0	0	0	1	0	6	96					A	54917243	G	A	54917243	2	1	268	1	0	0	0	0	0	0	0	1	10222	1194	42	2		2	NCKAP1L	12	54917243	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	469508	54917243	78934652	91	29457											
PTPRR	5801	broad.mit.edu	37	chr12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-													gcttagtgcatccacaactcCttcttctttcagctgttgac							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:71050530_71050532delCTT	ENST00000283228.2	-	13	2284_2286	c.1832_1834delAAG	c.(1831-1836)gaagga>gga	p.E611del	PTPRR_ENST00000549308.1_In_Frame_Del_p.E366del|PTPRR_ENST00000378778.1_In_Frame_Del_p.E405del|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_In_Frame_Del_p.E499del|PTPRR_ENST00000440835.2_In_Frame_Del_p.E366del	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	611	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		TCCACAACTCCTTCTTCTTTCAG	0.433																																						ENST00000283228.2																			0				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						c.(1831-1836)gga>g		protein tyrosine phosphatase, receptor type, R																																				SO:0001651	inframe_deletion	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71050530_71050532delCTT	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.1832_1834delAAG	12.37:g.71050536_71050538delCTT	ENSP00000283228:p.Glu611del					PTPRR_ENST00000378778.1_In_Frame_Del_p.EG405del|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_In_Frame_Del_p.EG366del|PTPRR_ENST00000440835.2_In_Frame_Del_p.EG366del|PTPRR_ENST00000342084.4_In_Frame_Del_p.EG499del	p.EG611del	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	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)	13	2284_2286	-			611			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	In_Frame_Del	DEL	ENST00000283228.2	37	c.1832_1834delAAG	CCDS8998.1																																																																																				0.433	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		43	159						43	159	---	---	---	---	-	71050532	CTT	-	71050530	7	5	268	1	0	1	0	1	0	0	0	0	12810	690	24	0	147	0	PTPRR	12	71050530	In_Frame_Del	DEL	CTT	TCGA-HT-7688-01A-11D-2253-08	16133287	71050530	62801365	92	29458											
CLIP1	6249	broad.mit.edu	37	chr12	122773037	122773037	+	Splice_Site	DEL	T	T	-													caataaacagaaagcttaccTttttttcatttctaacaact							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:122773037delT	ENST00000540338.1	-	20	3687	c.3646delA	c.(3646-3648)aga>ga	p.R1216fs	CLIP1_ENST00000361654.4_Splice_Site_p.R1094fs|CLIP1_ENST00000358808.2_Splice_Site_p.R1205fs|CLIP1_ENST00000545889.1_Splice_Site_p.R791fs|CLIP1_ENST00000537178.1_Splice_Site_p.R1170fs|CLIP1_ENST00000302528.7_Splice_Site_p.R1205fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1216					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)		AAAGCTTACCTTTTTTTCATT	0.333																																						ENST00000358808.2																			0				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						c.e20+1		CAP-GLY domain containing linker protein 1			,	78,4184		37,4,2090	115	115	115		,	5.2	1	12		113	183,8065		89,5,4030	no	frameshift-near-splice,frameshift-near-splice	CLIP1	NM_198240.1,NM_002956.2	,	126,9,6120	A1A1,A1R,RR		2.2187,1.8301,2.0863	,	,	122773037	261,12249	2202	4297	6499	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122773037delT		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.3647+1A>-	12.37:g.122773037delT						CLIP1_ENST00000540338.1_Splice_Site_p.R1216_splice|CLIP1_ENST00000361654.4_Splice_Site_p.R1094_splice|CLIP1_ENST00000302528.7_Splice_Site_p.R1205_splice|CLIP1_ENST00000545889.1_Splice_Site_p.R791_splice|CLIP1_ENST00000537178.1_Splice_Site_p.R1170_splice	p.R1205_splice	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	20	3767	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1216					A0AVD3|Q17RS4|Q29RG0	Splice_Site	DEL	ENST00000540338.1	37	c.3614_splice	CCDS58285.1																																																																																				0.333	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Frame_Shift_Del	7	16						7	16	---	---	---	---	-	122773037	T	-	122773037	8	5	268	1	0	1	0	1	0	0	1	0	3532	1623	56	0	694	0	CLIP1	12	122773037	Splice_Site	DEL	T	TCGA-HT-7688-01A-11D-2253-08	51722507	122773037	11078858	93	29459											
RNF6	6049	broad.mit.edu	37	chr13	26788671	26788671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggttcgaatacctgaccGctctaaacgagaaatggttc	9	9	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:26788671G>A	ENST00000381588.4	-	5	2100	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RNF6_ENST00000346166.3_Missense_Mutation_p.R450W|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R450W|RNF6_ENST00000399762.2_Missense_Mutation_p.R94W	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	450					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R450W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATACCTGACCGCTCTAAACGA	0.438																																						ENST00000381588.4																			1	Substitution - Missense(1)	p.R450W(1)	ovary(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23						c.(1348-1350)Cgg>Tgg		ring finger protein (C3H2C3 type) 6							101	100	101					13																	26788671		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26788671G>A	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1348C>T	13.37:g.26788671G>A	ENSP00000371000:p.Arg450Trp					RNF6_ENST00000346166.3_Missense_Mutation_p.R450W|RNF6_ENST00000399762.2_Missense_Mutation_p.R94W|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R450W	p.R450W	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	2100	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	450					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.1348C>T	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342944	0.61073	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	T;T;T;T	0.21734	2.51;2.51;2.51;1.99	4.49	2.7	0.31948	.	0.076217	0.53938	D	0.000047	T	0.42921	0.1224	M	0.68593	2.085	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.952	T	0.35475	-0.9787	10	0.87932	D	0	-6.4837	13.028	0.58827	0.0:0.0:0.7067:0.2933	.	94;450	B4DDP0;Q9Y252	.;RNF6_HUMAN	W	450;450;450;94	ENSP00000342121:R450W;ENSP00000371000:R450W;ENSP00000370982:R450W;ENSP00000382665:R94W	ENSP00000342121:R450W	R	-	1	2	RNF6	25686671	1.000000	0.71417	0.926000	0.36857	0.993000	0.82548	3.483000	0.53194	0.473000	0.27368	0.455000	0.32223	CGG		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		3	68	0	0	0	1	0	3	68					A	26788671	G	A	26788671	3	1	268	1	0	0	0	0	1	0	0	0	13498	1086	38	1	713	1	RNF6	13	26788671	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26788671	88381207	94	29460											
CUL4A	8451	broad.mit.edu	37	chr13	113891149	113891149	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatataggaaaccactgatTgcttgtgtggagaaacagct	10	6	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:113891149T>C	ENST00000375440.4	+	9	945	c.861T>C	c.(859-861)atT>atC	p.I287I	CUL4A_ENST00000375441.3_Silent_p.I187I|CUL4A_ENST00000451881.1_Silent_p.I187I|CUL4A_ENST00000326335.4_Silent_p.I187I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	287					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)			AACCACTGATTGCTTGTGTGG	0.358																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(559-561)atT>atC		cullin 4A							106	106	106					13																	113891149		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113891149T>C	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.861T>C	13.37:g.113891149T>C						CUL4A_ENST00000375441.3_Silent_p.I187I|CUL4A_ENST00000326335.4_Silent_p.I187I|CUL4A_ENST00000375440.4_Silent_p.I287I	p.I187I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		9	810	+	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)	287					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.561T>C	CCDS41908.1																																																																																				0.358	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		3	56	0	0	0	1	0	3	56					C	113891149	T	C	113891149	2	2	268	1	0	0	0	0	0	0	0	1	4057	1800	63	3		3	CUL4A	13	113891149	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	87102478	113891149	1278729	95	29461											
SUPT16H	11198	broad.mit.edu	37	chr14	21838616	21838616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttaatggcttcaatcAttttgtcaaagctactctta	4	8	5	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21838616A>G	ENST00000216297.2	-	4	700	c.362T>C	c.(361-363)aTg>aCg	p.M121T		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	121					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)		GGCTTCAATCATTTTGTCAAA	0.383																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(361-363)aTg>aCg		suppressor of Ty 16 homolog (S. cerevisiae)							136	125	129					14																	21838616		2202	4300	6502	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21838616A>G	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.362T>C	14.37:g.21838616A>G	ENSP00000216297:p.Met121Thr						p.M121T	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	4	700	-	all_cancers(95;0.00115)		121					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.362T>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181100	0.57800	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	.	.	.	5.87	5.87	0.94306	.	0.038047	0.85682	D	0.000000	T	0.59945	0.2231	L	0.54323	1.7	0.80722	D	1	B	0.16802	0.019	B	0.18263	0.021	T	0.57653	-0.7774	9	0.56958	D	0.05	-23.2946	15.2599	0.73613	1.0:0.0:0.0:0.0	.	121	Q9Y5B9	SP16H_HUMAN	T	121	.	ENSP00000216297:M121T	M	-	2	0	SUPT16H	20908456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.778000	0.91785	2.247000	0.74100	0.482000	0.46254	ATG		0.383	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	53	0	0	0	1	0	4	53					G	21838616	A	G	21838616	3	3	268	1	0	0	0	0	1	0	0	0	15393	217	8	3	2873	3	SUPT16H	14	21838616	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		21838616	85510924	96	29462											
CHD8	57680	broad.mit.edu	37	chr14	21861840	21861840	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgcatctcatagtcttgTggggttggtcggctcctggc	13	11	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21861840T>G	ENST00000557364.1	-	32	6377	c.6114A>C	c.(6112-6114)ccA>ccC	p.P2038P	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000399982.2_Silent_p.P2038P|CHD8_ENST00000430710.3_Silent_p.P1759P|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2038					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|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)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATAGTCTTGTGGGGTTGGTC	0.547																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6112-6114)ccA>ccC		chromodomain helicase DNA binding protein 8							57	59	58					14																	21861840		1999	4169	6168	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861840T>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6114A>C	14.37:g.21861840T>G						CHD8_ENST00000430710.3_Silent_p.P1759P|CHD8_ENST00000557364.1_Silent_p.P2038P	p.P2038P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6178	-	all_cancers(95;0.00121)		2038					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6114A>C	CCDS53885.1																																																																																				0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		5	51	0	0	0	1	0	5	51					G	21861840	T	G	21861840	2	3	268	1	0	0	0	0	0	0	0	1	3331	1683	59	5		5	CHD8	14	21861840	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	23224	21861840	85487700	97	29463											
TRIM9	114088	broad.mit.edu	37	chr14	51446210	51446210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaatgtcaagtttttTctatttaagtcgaggaggac	8	4	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:51446210T>C	ENST00000298355.3	-	9	3086	c.1965A>G	c.(1963-1965)agA>agG	p.R655R	TRIM9_ENST00000338969.5_Silent_p.R736R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	655	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)					TCAAGTTTTTTCTATTTAAGT	0.453																																						ENST00000298355.3																			0				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						c.(1963-1965)agA>agG		tripartite motif containing 9							197	215	209					14																	51446210		2203	4300	6503	SO:0001819	synonymous_variant	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446210T>C	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.1965A>G	14.37:g.51446210T>C						TRIM9_ENST00000338969.5_Silent_p.R736R	p.R655R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			9	3086	-	all_epithelial(31;0.00418)|Breast(41;0.148)		655			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Silent	SNP	ENST00000298355.3	37	c.1965A>G	CCDS9703.1																																																																																				0.453	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		11	186	0	0	0	1	0	11	186					C	51446210	T	C	51446210	2	2	268	1	0	0	0	0	0	0	0	1	16546	1780	62	3		3	TRIM9	14	51446210	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	29584370	51446210	55903330	98	29464											
C14orf37	145407	broad.mit.edu	37	chr14	58605972	58605974	+	In_Frame_Del	DEL	CCT	CCT	-													gcatgaacatgtgctatctcCctcctcctttctattttggg							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:58605972_58605974delCCT	ENST00000267485.7	-	2	297_299	c.103_105delAGG	c.(103-105)aggdel	p.R35del	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	35						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGCTATCTCCCTCCTCCTTTCT	0.478																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(103-105)del		chromosome 14 open reading frame 37																																				SO:0001651	inframe_deletion	145407					integral to membrane	binding	g.chr14:58605972_58605974delCCT		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.103_105delAGG	14.37:g.58605978_58605980delCCT	ENSP00000267485:p.Arg35del					C14orf37_ENST00000334342.5_5'UTR	p.R35del	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	297_299	-			35					A8K8Z8|Q6P5Q1|Q86TY1	In_Frame_Del	DEL	ENST00000267485.7	37	c.103_105delAGG	CCDS32089.1																																																																																				0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		36	110						36	110	---	---	---	---	-	58605974	CCT	-	58605972	7	5	268	1	0	1	0	1	0	0	0	0	1771	622	22	0	2247	0	C14orf37	14	58605972	In_Frame_Del	DEL	CCT	TCGA-HT-7688-01A-11D-2253-08	7159762	58605972	48743568	99	29465											
PCNX	22990	broad.mit.edu	37	chr14	71492954	71492954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttcaaattatatggaAtaactttcaccaatccactg	4	10	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:71492954A>C	ENST00000304743.2	+	14	3750	c.3304A>C	c.(3304-3306)Ata>Cta	p.I1102L	PCNX_ENST00000439984.3_Missense_Mutation_p.I991L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1102L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1102						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)		ATTATATGGAATAACTTTCAC	0.338																																						ENST00000304743.2																			0				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						c.(3304-3306)Ata>Cta		pecanex homolog (Drosophila)							96	89	91					14																	71492954		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71492954A>C	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.3304A>C	14.37:g.71492954A>C	ENSP00000304192:p.Ile1102Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.I991L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1102L	p.I1102L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	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)	14	3750	+			1102					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3304A>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.38|10.38	1.334395|1.334395	0.24253|0.24253	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.59083	.|0.29;0.29;0.29	5.64|5.64	3.23|3.23	0.37069|0.37069	.|.	.|0.200527	.|0.52532	.|D	.|0.000077	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.01146|0.01146	-0.985|-0.985	0.29069|0.29069	N|N	0.883404|0.883404	.|B;B	.|0.10296	.|0.0;0.003	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.30794|0.30794	-0.9966|-0.9966	5|10	.|0.02654	.|T	.|1	.|.	10.085|10.085	0.42412|0.42412	0.8628:0.0:0.1372:0.0|0.8628:0.0:0.1372:0.0	.|.	.|991;1102	.|B2RTR6;Q96RV3	.|.;PCX1_HUMAN	D|L	160|1102;1102;991	.|ENSP00000304192:I1102L;ENSP00000238570:I1102L;ENSP00000396617:I991L	.|ENSP00000238570:I1102L	E|I	+|+	3|1	2|0	PCNX|PCNX	70562707|70562707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.305000|2.305000	0.43664|0.43664	0.400000|0.400000	0.25396|0.25396	0.533000|0.533000	0.62120|0.62120	GAA|ATA		0.338	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		3	23	0	0	0	1	0	3	23					C	71492954	A	C	71492954	3	2	268	1	0	0	0	0	1	0	0	0	11591	101	4	5	3358	5	PCNX	14	71492954	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12886982	71492954	35856586	100	29466											
C15orf2	23742	broad.mit.edu	37	chr15	24923452	24923452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagcagtgcctctgcagCatcgttatccaagcctgcca	10	13	1	1	rs369894572		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:24923452C>T	ENST00000329468.2	+	1	2912	c.2438C>T	c.(2437-2439)gCa>gTa	p.A813V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	813					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCCTCTGCAGCATCGTTATCC	0.522																																						ENST00000329468.2																			0											c.(2437-2439)gCa>gTa		nuclear pore associated protein 1							136	131	132					15																	24923452		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923452C>T	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.2438C>T	15.37:g.24923452C>T	ENSP00000333735:p.Ala813Val						p.A813V	NM_018958.2	NP_061831.2					1	2912	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2438C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.688	1.151111	0.21371	.	.	ENSG00000185823	ENST00000329468	T	0.07688	3.17	1.26	-2.52	0.06346	.	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.30584	0.286	B	0.20577	0.03	T	0.37244	-0.9714	9	0.33141	T	0.24	.	0.3484	0.00345	0.2464:0.302:0.2455:0.2061	.	813	Q9NZP6	CO002_HUMAN	V	813	ENSP00000333735:A813V	ENSP00000333735:A813V	A	+	2	0	C15orf2	22474545	0.008000	0.16893	0.000000	0.03702	0.002000	0.02628	-0.172000	0.09868	-1.205000	0.02645	-0.310000	0.09108	GCA		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	160	0	0	0	1	0	5	160					T	24923452	C	T	24923452	3	4	268	1	0	0	0	0	1	0	0	0	1784	710	25	2	2440	2	C15orf2	15	24923452	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		24923452	77607940	101	29467											
GATM	2628	broad.mit.edu	37	chr15	45658331	45658331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgcatgggattgggatcTttaaaggagatgatatgcac	12	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:45658331T>C	ENST00000396659.3	-	6	1230	c.891A>G	c.(889-891)aaA>aaG	p.K297K	GATM_ENST00000558336.1_Silent_p.K297K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	297					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GATTGGGATCTTTAAAGGAGA	0.428																																						ENST00000396659.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(889-891)aaA>aaG		glycine amidinotransferase (L-arginine:glycine amidinotransferase)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						173	154	160					15																	45658331		2198	4298	6496	SO:0001819	synonymous_variant	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45658331T>C	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.891A>G	15.37:g.45658331T>C						GATM_ENST00000558336.1_Silent_p.K297K	p.K297K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	6	1230	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	297					B4DH99|B4DPI3|Q53EQ4	Silent	SNP	ENST00000396659.3	37	c.891A>G	CCDS10122.1																																																																																				0.428	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		21	59	0	0	0	1	0	21	59					C	45658331	T	C	45658331	2	2	268	1	0	0	0	0	0	0	0	1	6263	1606	56	3		3	GATM	15	45658331	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	20734879	45658331	56873061	102	29468											
SEMA6D	80031	broad.mit.edu	37	chr15	48052514	48052514	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagattcaaggcaataTccggtttttagaggacgccc	10	10	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:48052514T>A	ENST00000316364.5	+	3	562	c.123T>A	c.(121-123)taT>taA	p.Y41*	SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.Y41*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	41	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)		CAAGGCAATATCCGGTTTTTA	0.418																																						ENST00000316364.5																			0				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						c.(121-123)taT>taA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							101	91	94					15																	48052514		2198	4297	6495	SO:0001587	stop_gained	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052514T>A	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.123T>A	15.37:g.48052514T>A	ENSP00000324857:p.Tyr41*					SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Y41*	p.Y41*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	3	562	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	41			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Nonsense_Mutation	SNP	ENST00000316364.5	37	c.123T>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	39	7.305995	0.98200	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	.	.	.	5.76	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2119	0.48804	0.0:0.0711:0.0:0.9289	.	.	.	.	X	41	.	ENSP00000324857:Y41X	Y	+	3	2	SEMA6D	45839806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.787000	0.55439	2.202000	0.70862	0.533000	0.62120	TAT		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		3	53	0	0	0	1	0	3	53					A	48052514	T	A	48052514	4	1	268	1	0	0	0	0	0	1	0	0	14042	1442	50	5	129	5	SEMA6D	15	48052514	Nonsense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2394183	48052514	54478878	103	29469											
ALDH1A2	8854	broad.mit.edu	37	chr15	58254315	58254315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacattccagcttggcGccctcagccacaccactctg	6	20	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:58254315G>A	ENST00000249750.4	-	10	1913	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	ALDH1A2_ENST00000559517.1_Silent_p.G286G|ALDH1A2_ENST00000347587.3_Silent_p.G344G|ALDH1A2_ENST00000537372.1_Silent_p.G361G|ALDH1A2_ENST00000558231.1_Silent_p.G353G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	382					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGCTTGGCGCCCTCAGCCA	0.473																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1144-1146)ggC>ggT		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						98	92	94					15																	58254315		2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58254315G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1146C>T	15.37:g.58254315G>A						ALDH1A2_ENST00000347587.3_Silent_p.G344G|ALDH1A2_ENST00000559517.1_Silent_p.G286G|ALDH1A2_ENST00000537372.1_Silent_p.G361G|ALDH1A2_ENST00000558231.1_Silent_p.G353G	p.G382G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	10	1913	-			382					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.1146C>T	CCDS10163.1																																																																																				0.473	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			4	91	0	0	0	1	0	4	91					A	58254315	G	A	58254315	2	1	268	1	0	0	0	0	0	0	0	1	491	1074	38	1		1	ALDH1A2	15	58254315	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	10201801	58254315	44277077	104	29470											
RASGRF1	5923	broad.mit.edu	37	chr15	79296193	79296193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctcaggggtcgtatcGccctcatctggaatcttgtt	11	11	4	0	rs111385391	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:79296193G>A	ENST00000419573.3	-	16	2722	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000558480.2_Silent_p.G800G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	816					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612													G|||	24	0.00479233	0.0	0.0014	5008	,	,		18754	0.0		0.004	False		,,,				2504	0.0194					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2446-2448)ggC>ggT		Ras protein-specific guanine nucleotide-releasing factor 1		G	,,	5,4387	9.9+/-24.2	0,5,2191	57	47	51		2400,2448,96	-9.9	0	15	dbSNP_132	51	33,8553	22.8+/-68.1	0,33,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	,,	0,38,6451	AA,AG,GG		0.3843,0.1138,0.2928	,,	800/1258,816/1274,32/490	79296193	38,12940	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296193G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2448C>T	15.37:g.79296193G>A						RASGRF1_ENST00000558480.2_Silent_p.G800G|RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR	p.G816G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			16	2722	-			818					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2448C>T	CCDS10309.1																																																																																				0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		5	62	0	0	0	1	0	5	62					A	79296193	G	A	79296193	2	1	268	1	0	0	0	0	0	0	0	1	13072	1074	38	1		1	RASGRF1	15	79296193	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	21041878	79296193	23235199	105	29471											
PDE8A	5151	broad.mit.edu	37	chr15	85619979	85619979	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggtggatagagaagaGttgtccgtaatgcctttcat	13	5	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:85619979G>C	ENST00000310298.4	+	6	759	c.507G>C	c.(505-507)gaG>gaC	p.E169D	PDE8A_ENST00000339708.5_Missense_Mutation_p.E169D|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Missense_Mutation_p.E97D|PDE8A_ENST00000394553.1_Missense_Mutation_p.E169D			O60658	PDE8A_HUMAN	phosphodiesterase 8A	169					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	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)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATAGAGAAGAGTTGTCCGTAA	0.294																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(505-507)gaG>gaC		phosphodiesterase 8A							206	198	201					15																	85619979		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85619979G>C	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.507G>C	15.37:g.85619979G>C	ENSP00000311453:p.Glu169Asp					PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.E169D|PDE8A_ENST00000557957.1_Missense_Mutation_p.E97D|PDE8A_ENST00000339708.5_Missense_Mutation_p.E169D	p.E169D			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		6	759	+	Colorectal(223;0.227)		169					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.507G>C	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877091	0.17395	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.42900	0.96;0.96;0.96	4.19	-2.56	0.06268	Signal transduction response regulator, receiver domain (1);	0.253429	0.38111	N	0.001802	T	0.45478	0.1344	L	0.48877	1.53	0.32264	N	0.569725	D;D	0.76494	0.997;0.999	D;D	0.83275	0.961;0.996	T	0.51228	-0.8732	10	0.27082	T	0.32	.	5.7001	0.17877	0.5435:0.1509:0.3056:0.0	.	169;169	O60658-2;O60658	.;PDE8A_HUMAN	D	169	ENSP00000311453:E169D;ENSP00000378056:E169D;ENSP00000340679:E169D	ENSP00000311453:E169D	E	+	3	2	PDE8A	83420983	0.136000	0.22515	0.050000	0.19076	0.338000	0.28826	0.308000	0.19314	-0.351000	0.08249	-0.908000	0.02827	GAG		0.294	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		10	107	0	0	0	1	0	10	107					C	85619979	G	C	85619979	3	2	268	1	0	0	0	0	1	0	0	0	11653	1020	36	4	525	4	PDE8A	15	85619979	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6323786	85619979	16911413	106	29472											
ATXN2L	11273	broad.mit.edu	37	chr16	28846954	28846954	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggccctgacaggcacgccgCcctctctgccaccgggacct	12	19	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:28846954C>G	ENST00000336783.4	+	21	2937	c.2770C>G	c.(2770-2772)Ccc>Gcc	p.P924A	ATXN2L_ENST00000340394.8_Missense_Mutation_p.P924A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P924A|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P924A|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P930A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P924A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P924A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	924					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGCACGCCGCCCTCTCTGCC	0.677																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2770-2772)Ccc>Gcc		ataxin 2-like							42	41	41					16																	28846954		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846954C>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2770C>G	16.37:g.28846954C>G	ENSP00000338718:p.Pro924Ala					ATXN2L_ENST00000564304.1_Missense_Mutation_p.P930A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P924A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P924A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P924A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P924A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P924A	p.P924A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			21	2937	+			924					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2770C>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	16.51	3.142768	0.57044	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;D;T;T;T	0.81499	-1.33;-1.5;-1.44;-1.36;-1.39	5.82	4.87	0.63330	.	0.081904	0.51477	D	0.000087	T	0.74061	0.3667	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.24533	0.063;0.063;0.105;0.105;0.063;0.105	B;B;B;B;B;B	0.27715	0.038;0.038;0.082;0.082;0.038;0.082	T	0.71314	-0.4630	10	0.49607	T	0.09	-11.7313	13.8513	0.63499	0.0:0.9254:0.0:0.0746	.	924;924;924;924;924;924	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	A	924	ENSP00000341459:P924A;ENSP00000378917:P924A;ENSP00000338718:P924A;ENSP00000372133:P924A;ENSP00000315650:P924A	ENSP00000315650:P924A	P	+	1	0	ATXN2L	28754455	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.899000	0.69846	1.465000	0.48006	0.467000	0.42956	CCC		0.677	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		5	61	0	0	0	1	0	5	61					G	28846954	C	G	28846954	3	3	268	1	0	0	0	0	1	0	0	0	1212	739	26	4	2852	4	ATXN2L	16	28846954	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28846954	61507799	107	29473											
ITGAM	3684	broad.mit.edu	37	chr16	31308840	31308840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtctctttcagatcggCgcctacttcggggcctccct	9	16	2	1	rs369936883		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:31308840C>T	ENST00000287497.8	+	13	1437	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000544665.3_Silent_p.G454G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					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						TTCAGATCGGCGCCTACTTCG	0.582																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1360-1362)ggC>ggT		integrin, alpha M (complement component 3 receptor 3 subunit)		C	,	1,4379	2.1+/-5.4	0,1,2189	119	130	126		1362,1362	1.8	1	16		126	0,8578		0,0,4289	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6478	TT,TC,CC		0.0,0.0228,0.0077	,	454/1153,454/1154	31308840	1,12957	2190	4289	6479	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308840C>T	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.1362C>T	16.37:g.31308840C>T						ITGAM_ENST00000287497.8_Silent_p.G454G	p.G454G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			13	1433	+			454					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1362C>T	CCDS45470.1																																																																																				0.582	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		6	228	0	0	0	1	0	6	228					T	31308840	C	T	31308840	2	4	268	1	0	0	0	0	0	0	0	1	7887	755	27	1		1	ITGAM	16	31308840	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2461886	31308840	59045913	108	29474											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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)				TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	37	0	0	0	1	0	52	37					C	7578394	T	C	7578394	3	2	268	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		7578394	73616816	109	29475											
ALDH3A1	218	broad.mit.edu	37	chr17	19646621	19646621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgacgaggaccacGcccagtggctccgagtggat	14	12	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:19646621G>A	ENST00000457500.2	-	2	647	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALDH3A1_ENST00000395555.3_Silent_p.G106G|ALDH3A1_ENST00000494157.2_Silent_p.G33G|ALDH3A1_ENST00000225740.6_Silent_p.G106G|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000444455.1_Silent_p.G106G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	106					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CGAGGACCACGCCCAGTGGCT	0.627																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(316-318)ggC>ggT		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						112	97	102					17																	19646621		2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19646621G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.318C>T	17.37:g.19646621G>A						ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Silent_p.G106G|ALDH3A1_ENST00000444455.1_Silent_p.G106G|ALDH3A1_ENST00000494157.2_Silent_p.G33G|ALDH3A1_ENST00000225740.6_Silent_p.G106G	p.G106G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	2	647	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		106					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.318C>T	CCDS11212.1																																																																																				0.627	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		4	80	0	0	0	1	0	4	80					A	19646621	G	A	19646621	2	1	268	1	0	0	0	0	0	0	0	1	497	1074	38	1		1	ALDH3A1	17	19646621	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	12068227	19646621	61548589	110	29476											
TRAF4	9618	broad.mit.edu	37	chr17	27076467	27076468	+	Frame_Shift_Del	DEL	GA	GA	-													cgtggcggggctccctggatGagagttctctgggctttggt							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:27076467_27076468delGA	ENST00000262395.5	+	7	1414_1415	c.1285_1286delGA	c.(1285-1287)gagfs	p.E429fs	TRAF4_ENST00000444415.3_Intron|AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Splice_Site	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	429	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTCCCTGGATGAGAGTTCTCTG	0.554																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1285-1287)gfs		TNF receptor-associated factor 4																																				SO:0001589	frameshift_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076467_27076468delGA	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1285_1286delGA	17.37:g.27076469_27076470delGA	ENSP00000262395:p.Glu429fs					TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Splice_Site	p.E429fs	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1414_1415	+	Lung NSC(42;0.01)		429			MATH.		O75615|Q14848|Q2KJU4|Q2PJN8	Frame_Shift_Del	DEL	ENST00000262395.5	37	c.1285_1286delGA	CCDS11243.1																																																																																				0.554	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		8	92						8	92	---	---	---	---	-	27076468	GA	-	27076467	7	5	268	1	0	1	0	1	0	0	0	0	16440	1291	45	0	1311	0	TRAF4	17	27076467	Frame_Shift_Del	DEL	GA	TCGA-HT-7688-01A-11D-2253-08	7429846	27076467	54118743	111	29477											
CPD	1362	broad.mit.edu	37	chr17	28706125	28706125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggaggcgactaccacaActacgagcgcgggcgccgag	16	13	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:28706125A>G	ENST00000225719.4	+	1	203	c.127A>G	c.(127-129)Act>Gct	p.T43A	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	43	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTACCACAACTACGAGCGC	0.706																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(127-129)Act>Gct		carboxypeptidase D							3	4	4					17																	28706125		1887	3914	5801	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28706125A>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.127A>G	17.37:g.28706125A>G	ENSP00000225719:p.Thr43Ala						p.T43A	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN			1	203	+			43			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.127A>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	7.343	0.621329	0.14193	.	.	ENSG00000108582	ENST00000225719	T	0.17854	2.25	4.28	0.511	0.16989	.	0.386991	0.20357	N	0.093923	T	0.05181	0.0138	N	0.08118	0	0.26974	N	0.96553	B	0.02656	0.0	B	0.01281	0.0	T	0.32666	-0.9898	10	0.09843	T	0.71	.	0.8846	0.01241	0.4852:0.2044:0.1132:0.1972	.	43	O75976	CBPD_HUMAN	A	43	ENSP00000225719:T43A	ENSP00000225719:T43A	T	+	1	0	CPD	25730251	0.934000	0.31675	0.956000	0.39512	0.157000	0.22087	1.665000	0.37449	0.623000	0.30267	0.467000	0.42956	ACT		0.706	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		2	2	0	0	0	1	0	2	2					G	28706125	A	G	28706125	3	3	268	1	0	0	0	0	1	0	0	0	3798	43	2	3	129	3	CPD	17	28706125	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	1629658	28706125	52489085	112	29478											
ZNF207	7756	broad.mit.edu	37	chr17	30696691	30696691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgtatgggcagggaccGccaatggtgcccccttacca	11	17	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:30696691G>A	ENST00000321233.6	+	11	1504	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P	ZNF207_ENST00000342555.6_Silent_p.P469P|ZNF207_ENST00000341711.6_Silent_p.P367P|ZNF207_ENST00000394673.2_Silent_p.P435P|ZNF207_ENST00000394670.4_Silent_p.P466P|ZNF207_ENST00000577908.1_Silent_p.P466P	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	450					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGGGACCGCCAATGGTGC	0.527																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1396-1398)ccG>ccA		zinc finger protein 207							71	63	66					17																	30696691		2203	4300	6503	SO:0001819	synonymous_variant	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30696691G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1350G>A	17.37:g.30696691G>A						ZNF207_ENST00000342555.6_Silent_p.P469P|ZNF207_ENST00000394673.2_Silent_p.P435P|ZNF207_ENST00000341711.6_Silent_p.P367P|ZNF207_ENST00000321233.6_Silent_p.P450P|ZNF207_ENST00000577908.1_Silent_p.P466P	p.P466P	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		12	1567	+		Breast(31;0.116)|Ovarian(249;0.182)	450					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Silent	SNP	ENST00000321233.6	37	c.1398G>A	CCDS11271.1																																																																																				0.527	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			7	57	0	0	0	1	0	7	57					A	30696691	G	A	30696691	2	1	268	1	0	0	0	0	0	0	0	1	17762	1074	38	1		1	ZNF207	17	30696691	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1990566	30696691	50498519	113	29479											
CCR7	1236	broad.mit.edu	37	chr17	38715155	38715155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcacctggaaaatgAcaaggagagccaccaccagc	9	13	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:38715155A>G	ENST00000246657.2	-	2	112	c.50T>C	c.(49-51)gTc>gCc	p.V17A	CCR7_ENST00000579344.1_Missense_Mutation_p.V11A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	17					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTGGAAAATGACAAGGAGAGC	0.498																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(49-51)gTc>gCc		chemokine (C-C motif) receptor 7							73	66	69					17																	38715155		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38715155A>G		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.50T>C	17.37:g.38715155A>G	ENSP00000246657:p.Val17Ala					CCR7_ENST00000579344.1_Missense_Mutation_p.V11A	p.V17A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			2	112	-		Breast(137;0.000496)	17						Missense_Mutation	SNP	ENST00000246657.2	37	c.50T>C	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	A	9.910	1.209132	0.22205	.	.	ENSG00000126353	ENST00000246657	T	0.61158	0.13	4.9	4.9	0.64082	.	0.583336	0.16150	N	0.227324	T	0.49712	0.1573	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39375	-0.9617	10	0.39692	T	0.17	.	10.8408	0.46715	1.0:0.0:0.0:0.0	.	17	P32248	CCR7_HUMAN	A	17	ENSP00000246657:V17A	ENSP00000246657:V17A	V	-	2	0	CCR7	35968681	0.069000	0.21087	0.063000	0.19743	0.577000	0.36160	4.633000	0.61318	2.053000	0.61076	0.402000	0.26972	GTC		0.498	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			4	48	0	0	0	1	0	4	48					G	38715155	A	G	38715155	3	3	268	1	0	0	0	0	1	0	0	0	2946	275	10	3	1094	3	CCR7	17	38715155	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	8018464	38715155	42480055	114	29480											
KRT33A	3883	broad.mit.edu	37	chr17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	8	16	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(742-744)Gcc>Acc		keratin 33A							65	59	61					17																	39503321		2203	4296	6499	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503321C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.742G>A	17.37:g.39503321C>T	ENSP00000007735:p.Ala248Thr						p.A248T	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			4	786	-		Breast(137;0.000496)	248			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.742G>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	1.714	-0.498453	0.04291	.	.	ENSG00000006059	ENST00000007735	D	0.88741	-2.42	4.41	-0.427	0.12310	Filament (1);	0.385342	0.25264	N	0.031925	T	0.65037	0.2653	N	0.01505	-0.83	0.28797	N	0.898975	B	0.06786	0.001	B	0.06405	0.002	T	0.57423	-0.7814	10	0.17369	T	0.5	.	5.9195	0.19073	0.0:0.3508:0.1481:0.5011	.	248	O76009	KT33A_HUMAN	T	248	ENSP00000007735:A248T	ENSP00000007735:A248T	A	-	1	0	KRT33A	36756847	0.000000	0.05858	0.695000	0.30226	0.567000	0.35839	-1.415000	0.02469	-0.209000	0.10156	-0.471000	0.05019	GCC		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		5	58	0	0	0	1	0	5	58					T	39503321	C	T	39503321	3	4	268	1	0	0	0	0	1	0	0	0	8469	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	788166	39503321	41691889	115	29481											
KRT17	3872	broad.mit.edu	37	chr17	39779208	39779208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctaggactcacttggtgCggaagtcatcagcagccaga	12	11	3	1	rs560599599		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39779208C>T	ENST00000311208.8	-	2	576	c.509G>A	c.(508-510)cGc>cAc	p.R170H	JUP_ENST00000540235.1_Missense_Mutation_p.R329H	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	170	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCACTTGGTGCGGAAGTCATC	0.587													c|||	1	0.000199681	0.0	0.0	5008	,	,		19918	0.0		0.0	False		,,,				2504	0.001				Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(985-987)cGc>cAc		junction plakoglobin							109	94	99					17																	39779208		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39779208C>T	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.509G>A	17.37:g.39779208C>T	ENSP00000308452:p.Arg170His					KRT17_ENST00000311208.8_Missense_Mutation_p.R170H	p.R329H			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	5	985	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.986G>A	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734773	0.89482	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91180	-2.8;-2.8	4.33	4.33	0.51752	Filament (1);	0.000000	0.43919	D	0.000513	D	0.92763	0.7699	H	0.94925	3.6	0.30134	N	0.804527	B	0.26708	0.157	B	0.29524	0.103	D	0.91201	0.4991	10	0.66056	D	0.02	.	11.9368	0.52878	0.0:0.9154:0.0:0.0846	.	170	Q04695	K1C17_HUMAN	H	170;329	ENSP00000308452:R170H;ENSP00000441751:R329H	ENSP00000441751:R329H	R	-	2	0	JUP;KRT17	37032734	0.927000	0.31430	0.993000	0.49108	0.995000	0.86356	2.043000	0.41231	2.420000	0.82092	0.561000	0.74099	CGC		0.587	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		7	163	0	0	0	1	0	7	163					T	39779208	C	T	39779208	3	4	268	1	0	0	0	0	1	0	0	0	8454	768	27	1	817	1	KRT17	17	39779208	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	275887	39779208	41416002	116	29482											
PHB	5245	broad.mit.edu	37	chr17	47486775	47486775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctggtgaagatgcgaGgaagctggctggcgacaggc	18	8	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:47486775G>A	ENST00000300408.3	-	4	383	c.311C>T	c.(310-312)cCt>cTt	p.P104L	PHB_ENST00000511832.1_Missense_Mutation_p.P104L|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	104					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAAGATGCGAGGAAGCTGGCT	0.512																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(310-312)cCt>cTt		prohibitin							88	85	86					17																	47486775		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486775G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.311C>T	17.37:g.47486775G>A	ENSP00000300408:p.Pro104Leu					RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Missense_Mutation_p.P104L|PHB_ENST00000508009.1_5'UTR	p.P104L	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		4	383	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		104					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.311C>T	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440032	0.83993	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735;ENST00000434917	D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	5.07	5.07	0.68467	.	0.050697	0.85682	D	0.000000	D	0.97876	0.9302	M	0.92077	3.27	0.80722	D	1	D	0.59767	0.986	D	0.70487	0.969	D	0.99044	1.0825	10	0.87932	D	0	.	18.026	0.89269	0.0:0.0:1.0:0.0	.	104	P35232	PHB_HUMAN	L	104	ENSP00000300408:P104L;ENSP00000425035:P104L;ENSP00000393320:P104L;ENSP00000426433:P104L;ENSP00000422182:P104L;ENSP00000407828:P104L;ENSP00000410680:P104L	ENSP00000300408:P104L	P	-	2	0	PHB	44841774	1.000000	0.71417	0.628000	0.29241	0.580000	0.36256	9.775000	0.98995	2.350000	0.79820	0.462000	0.41574	CCT		0.512	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		3	137	0	0	0	1	0	3	137					A	47486775	G	A	47486775	3	1	268	1	0	0	0	0	1	0	0	0	11814	1000	35	2	523	2	PHB	17	47486775	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	7707567	47486775	33708435	117	29483											
C17orf47	284083	broad.mit.edu	37	chr17	56620229	56620229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccggtgttgtcagctggCtttggggtgtttcaacttca	12	8	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:56620229C>T	ENST00000321691.3	-	1	1500	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	440										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)					TGTCAGCTGGCTTTGGGGTGT	0.507																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1318-1320)aGc>aAc		chromosome 17 open reading frame 47							130	140	136					17																	56620229		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620229C>T		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.1319G>A	17.37:g.56620229C>T	ENSP00000354874:p.Ser440Asn					RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.S440N	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1500	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		440					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1319G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446510	0.25987	.	.	ENSG00000181013	ENST00000321691	T	0.39997	1.05	5.62	3.58	0.41010	.	0.233302	0.38605	N	0.001637	T	0.27027	0.0662	N	0.17082	0.46	0.09310	N	1	P	0.44816	0.844	P	0.44772	0.46	T	0.06427	-1.0827	10	0.25106	T	0.35	-6.6392	6.981	0.24704	0.0:0.7286:0.1763:0.0951	.	440	Q8NEP4	CQ047_HUMAN	N	440	ENSP00000354874:S440N	ENSP00000354874:S440N	S	-	2	0	C17orf47	53975228	0.241000	0.23857	0.209000	0.23619	0.358000	0.29455	1.082000	0.30803	0.677000	0.31305	0.561000	0.74099	AGC		0.507	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		43	72	0	0	0	1	0	43	72					T	56620229	C	T	56620229	3	4	268	1	0	0	0	0	1	0	0	0	1858	797	28	2	401	2	C17orf47	17	56620229	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	9133454	56620229	24574981	118	29484											
ABCA6	23460	broad.mit.edu	37	chr17	67080574	67080574	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacacaccgcacgtaccTttctcgtgattcctgctgtt	6	15	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:67080574T>C	ENST00000284425.2	-	33	4433	c.4259A>G	c.(4258-4260)aAg>aGg	p.K1420R	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1420	ABC transporter 2. {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)					CGCACGTACCTTTCTCGTGAT	0.453																																						ENST00000284425.2																			0				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						c.e33+1		ATP-binding cassette, sub-family A (ABC1), member 6							355	306	323					17																	67080574		2203	4300	6503	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67080574T>C	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.4260+1A>G	17.37:g.67080574T>C						ABCA6_ENST00000446604.2_5'UTR	p.K1420_splice	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			33	4433	-	Breast(10;5.65e-12)		1420			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Splice_Site	SNP	ENST00000284425.2	37	c.4260_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066577	0.55539	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.06608	3.28	5.7	3.43	0.39272	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.241301	0.28566	N	0.014891	T	0.11537	0.0281	N	0.25094	0.71	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.06881	-1.0802	10	0.87932	D	0	.	7.1555	0.25635	0.2783:0.0:0.1242:0.5975	.	1420	Q8N139	ABCA6_HUMAN	R	1420;280	ENSP00000284425:K1420R	ENSP00000284425:K1420R	K	-	2	0	ABCA6	64592169	1.000000	0.71417	0.970000	0.41538	0.266000	0.26442	3.973000	0.56845	0.386000	0.24997	0.533000	0.62120	AAG		0.453	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation	126	286	0	0	0	1	0	126	286					C	67080574	T	C	67080574	5	2	268	1	0	0	0	0	0	0	1	0	36	1623	56	3	622	3	ABCA6	17	67080574	Splice_Site	SNP	T	TCGA-HT-7688-01A-11D-2253-08	10460345	67080574	14114636	119	29485											
SLC26A11	284129	broad.mit.edu	37	chr17	78199637	78199637	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctctgtgtttggacagaAcctgctgggactacagaaca	10	10	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:78199637A>G	ENST00000361193.3	+	6	795	c.515A>G	c.(514-516)aAc>aGc	p.N172S	SLC26A11_ENST00000572725.1_Splice_Site_p.N172S|SLC26A11_ENST00000411502.3_Splice_Site_p.N172S|SLC26A11_ENST00000546047.2_Splice_Site_p.N172S	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)			TTTGGACAGAACCTGCTGGGA	0.587																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.e6-1		solute carrier family 26 (anion exchanger), member 11							189	154	166					17																	78199637		2203	4300	6503	SO:0001630	splice_region_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78199637A>G		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.514-1A>G	17.37:g.78199637A>G						SLC26A11_ENST00000411502.3_Splice_Site_p.N172_splice|SLC26A11_ENST00000572725.1_Splice_Site_p.N172_splice|SLC26A11_ENST00000546047.2_Splice_Site_p.N172_splice	p.N172_splice	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		6	795	+	all_neural(118;0.0538)		172						Splice_Site	SNP	ENST00000361193.3	37	c.513_splice	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323931	0.24080	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92752	-3.1;-3.1;-3.1	3.56	3.56	0.40772	Sulphate transporter (1);	0.099482	0.64402	D	0.000003	T	0.82250	0.4996	N	0.16066	0.365	0.49213	D	0.99976	B	0.24132	0.098	B	0.27076	0.076	T	0.74569	-0.3622	10	0.14252	T	0.57	-19.0658	9.0998	0.36662	0.8155:0.1844:0.0:0.0	.	172	Q86WA9	S2611_HUMAN	S	172	ENSP00000403998:N172S;ENSP00000440724:N172S;ENSP00000355384:N172S	ENSP00000355384:N172S	N	+	2	0	SLC26A11	75814232	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.604000	0.67626	1.477000	0.48234	0.383000	0.25322	AAC		0.587	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1		Missense_Mutation	19	135	0	0	0	1	0	19	135					G	78199637	A	G	78199637	5	3	268	1	0	0	0	0	0	0	1	0	14516	57	2	3	529	3	SLC26A11	17	78199637	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11119063	78199637	2995573	120	29486											
ASXL3	80816	broad.mit.edu	37	chr18	31325552	31325552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcagaacctatttcatgttGacaagaatggcggcttccac	9	10	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:31325552G>C	ENST00000269197.5	+	12	5740	c.5740G>C	c.(5740-5742)Gac>Cac	p.D1914H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1914					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						ATTTCATGTTGACAAGAATGG	0.532																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5740-5742)Gac>Cac		additional sex combs like 3 (Drosophila)							103	106	105					18																	31325552		1985	4150	6135	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325552G>C	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.5740G>C	18.37:g.31325552G>C	ENSP00000269197:p.Asp1914His						p.D1914H	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5740	+			1914					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5740G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803142	0.50315	.	.	ENSG00000141431	ENST00000269197	T	0.19669	2.13	5.59	4.71	0.59529	.	.	.	.	.	T	0.23094	0.0558	N	0.19112	0.55	0.33088	D	0.537568	D	0.61697	0.99	P	0.52031	0.688	T	0.30851	-0.9964	9	0.72032	D	0.01	.	13.5689	0.61834	0.0758:0.0:0.9242:0.0	.	1914	Q9C0F0	ASXL3_HUMAN	H	1914	ENSP00000269197:D1914H	ENSP00000269197:D1914H	D	+	1	0	ASXL3	29579550	1.000000	0.71417	0.856000	0.33681	0.881000	0.50899	5.402000	0.66332	1.323000	0.45263	0.655000	0.94253	GAC		0.532	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			4	105	0	0	0	1	0	4	105					C	31325552	G	C	31325552	3	2	268	1	0	0	0	0	1	0	0	0	1068	1290	45	4	5786	4	ASXL3	18	31325552	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		31325552	46751696	121	29487											
MC4R	4160	broad.mit.edu	37	chr18	58038877	58038877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatattggcaccttggcGgatggcaccagtgccgggga	14	11	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:58038877G>A	ENST00000299766.3	-	1	1124	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GCACCTTGGCGGATGGCACCA	0.517																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(706-708)Cgc>Tgc		melanocortin 4 receptor							72	66	68					18																	58038877		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038877G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.706C>T	18.37:g.58038877G>A	ENSP00000299766:p.Arg236Cys						p.R236C	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	1124	-		Colorectal(73;0.0946)	236					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.706C>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752621	0.49362	.	.	ENSG00000166603	ENST00000299766	T	0.46451	0.87	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.165998	0.56097	D	0.000036	T	0.48537	0.1505	M	0.73598	2.24	0.58432	D	0.999999	B	0.25441	0.126	B	0.24848	0.056	T	0.47774	-0.9091	10	0.66056	D	0.02	.	17.6572	0.88181	0.0:0.0:1.0:0.0	.	236	P32245	MC4R_HUMAN	C	236	ENSP00000299766:R236C	ENSP00000299766:R236C	R	-	1	0	MC4R	56189857	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.762000	0.74950	2.773000	0.95371	0.655000	0.94253	CGC		0.517	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		11	48	0	0	0	1	0	11	48					A	58038877	G	A	58038877	3	1	268	1	0	0	0	0	1	0	0	0	9366	1116	39	1	296	1	MC4R	18	58038877	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26713325	58038877	20038371	122	29488											
KRI1	65095	broad.mit.edu	37	chr19	10671046	10671046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctcctcctcatagcGtttgttgaggatgtaatccc	7	13	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:10671046G>A	ENST00000312962.6	-	9	779	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.R250C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	248	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tcctcATAGCGTTTGTTGAGG	0.552																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(760-762)Cgc>Tgc		KRI1 homolog (S. cerevisiae)							76	65	69					19																	10671046		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10671046G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.760C>T	19.37:g.10671046G>A	ENSP00000320917:p.Arg254Cys					KRI1_ENST00000361821.5_Missense_Mutation_p.R250C	p.R254C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		9	779	-			254			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.760C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492169	0.84962	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09538	3.14;2.97	5.36	3.06	0.35304	.	0.575472	0.17428	N	0.174578	T	0.29588	0.0738	M	0.73962	2.25	0.38175	D	0.939454	D;D	0.89917	1.0;1.0	P;P	0.62184	0.828;0.899	T	0.28618	-1.0038	10	0.54805	T	0.06	-14.9221	14.3394	0.66614	0.0:0.4219:0.578:0.0	.	254;250	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	254;250;254	ENSP00000320917:R254C;ENSP00000355366:R250C	ENSP00000320917:R254C	R	-	1	0	KRI1	10532046	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.774000	0.26675	1.197000	0.43143	0.563000	0.77884	CGC		0.552	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	50	0	0	0	1	0	6	50					A	10671046	G	A	10671046	3	1	268	1	0	0	0	0	1	0	0	0	8444	1145	40	1	1413	1	KRI1	19	10671046	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		10671046	48457937	123	29489											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-													gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:11106926_11106928delAGA	ENST00000429416.3	+	11	1912_1914	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546			Missing (in MRD16). {ECO:0000269|PubMed:22426308}.		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)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(1630-1635)cag>c		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001651	inframe_deletion	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11106926_11106928delAGA	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.1631_1633delAGA	19.37:g.11106929_11106931delAGA	ENSP00000395654:p.Lys546del					SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK544del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK544del	p.QK544del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	1915_1917	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	544					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	c.1631_1633delAGA	CCDS12253.1																																																																																				0.576	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		29	146						29	146	---	---	---	---	-	11106928	AGA	-	11106926	7	5	268	1	0	1	0	1	0	0	0	0	14770	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7688-01A-11D-2253-08	435880	11106926	48022057	124	29490											
CYP4F22	126410	broad.mit.edu	37	chr19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacggcggcgggcactgcGtcagcagggggccgaggcct	20	12	1	0	rs146265982		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:15651449G>A	ENST00000269703.3	+	8	1059	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	287						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(859-861)cGt>cAt		cytochrome P450, family 4, subfamily F, polypeptide 22							52	49	50					19																	15651449		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651449G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.860G>A	19.37:g.15651449G>A	ENSP00000269703:p.Arg287His					CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			8	1059	+			287					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.860G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770824	0.15983	.	.	ENSG00000171954	ENST00000269703	T	0.69435	-0.4	5.39	-8.26	0.01021	.	0.837839	0.11097	N	0.600125	T	0.41811	0.1175	N	0.16790	0.44	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26710	-1.0095	10	0.49607	T	0.09	.	8.7882	0.34835	0.628:0.2224:0.1495:0.0	.	287	Q6NT55	CP4FN_HUMAN	H	287	ENSP00000269703:R287H	ENSP00000269703:R287H	R	+	2	0	CYP4F22	15512449	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.885000	0.01620	-1.278000	0.02408	-0.476000	0.04901	CGT		0.632	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		21	66	0	0	0	1	0	21	66					A	15651449	G	A	15651449	3	1	268	1	0	0	0	0	1	0	0	0	4189	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	4544523	15651449	43477534	125	29491											
ISYNA1	51477	broad.mit.edu	37	chr19	18545911	18545911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatgtggttctgtggcgGgagccccacgcaggccctgg	17	12	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:18545911G>A	ENST00000338128.8	-	11	1706	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	ISYNA1_ENST00000578963.1_Missense_Mutation_p.P369S|ISYNA1_ENST00000457269.4_Missense_Mutation_p.P443S|ISYNA1_ENST00000317018.6_Missense_Mutation_p.P295S|ISYNA1_ENST00000545187.1_Missense_Mutation_p.P347S	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	497					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTGTGGCGGGAGCCCCACG	0.627																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(1039-1041)Ccg>Tcg		inositol-3-phosphate synthase 1							41	40	41					19																	18545911		2203	4299	6502	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18545911G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1489C>T	19.37:g.18545911G>A	ENSP00000337746:p.Pro497Ser					ISYNA1_ENST00000338128.7_Missense_Mutation_p.P497S|ISYNA1_ENST00000578963.1_Missense_Mutation_p.P369S|ISYNA1_ENST00000317018.6_Missense_Mutation_p.P295S|ISYNA1_ENST00000457269.3_Missense_Mutation_p.P443S	p.P347S			Q9NPH2	INO1_HUMAN			8	1325	-			497					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.1039C>T	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917283	0.33815	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.09	2.96	0.34315	.	0.068022	0.64402	D	0.000014	T	0.34250	0.0891	L	0.39245	1.2	0.47949	D	0.999555	B;B;P;B	0.35982	0.106;0.079;0.531;0.07	B;B;B;B	0.26969	0.018;0.058;0.075;0.03	T	0.24693	-1.0153	9	0.44086	T	0.13	-35.9399	6.2493	0.20837	0.1112:0.1911:0.6977:0.0	.	295;443;497;347	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	S	497;443;347;295	.	ENSP00000315147:P295S	P	-	1	0	ISYNA1	18406911	0.994000	0.37717	0.978000	0.43139	0.538000	0.34931	2.494000	0.45329	2.023000	0.59567	0.561000	0.74099	CCG		0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		3	57	0	0	0	1	0	3	57					A	18545911	G	A	18545911	3	1	268	1	0	0	0	0	1	0	0	0	7867	1232	43	2	191	2	ISYNA1	19	18545911	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	2894462	18545911	40583072	126	29492											
ZNF599	148103	broad.mit.edu	37	chr19	35250972	35250972	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtatgaagcctcataTgtcgaatgacatcagccata	7	12	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:35250972T>G	ENST00000329285.8	-	4	1107	c.734A>C	c.(733-735)cAt>cCt	p.H245P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	245					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)			AAGCCTCATATGTCGAATGAC	0.488																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(733-735)cAt>cCt		zinc finger protein 599							139	143	142					19																	35250972		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250972T>G	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.734A>C	19.37:g.35250972T>G	ENSP00000333802:p.His245Pro						p.H245P	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1107	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		245					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.734A>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766826	0.31320	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	D	0.86865	-2.18	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93805	0.8019	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92039	0.5639	9	0.87932	D	0	.	4.5871	0.12287	0.2873:0.0:0.0:0.7127	.	245	Q96NL3	ZN599_HUMAN	P	244;245;47	ENSP00000333802:H245P	ENSP00000333802:H245P	H	-	2	0	ZNF599	39942812	1.000000	0.71417	0.991000	0.47740	0.614000	0.37383	6.199000	0.72112	1.297000	0.44761	0.260000	0.18958	CAT		0.488	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		3	92	0	0	0	1	0	3	92					G	35250972	T	G	35250972	3	3	268	1	0	0	0	0	1	0	0	0	18026	1464	51	5	1036	5	ZNF599	19	35250972	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	16705061	35250972	23878011	127	29493											
NPHS1	4868	broad.mit.edu	37	chr19	36340183	36340183	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattaccccctcgggccacGcacggcagctccaagctctg	11	17	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:36340183G>A	ENST00000378910.5	-	7	794	c.795C>T	c.(793-795)tgC>tgT	p.C265C	NPHS1_ENST00000353632.6_Silent_p.C265C|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	265	Ig-like C2-type 3.		C -> R (in NPHS1). {ECO:0000269|PubMed:17290294}.		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)			CTCGGGCCACGCACGGCAGCT	0.657																																						ENST00000378910.5																			0				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						c.(793-795)tgC>tgT		nephrosis 1, congenital, Finnish type (nephrin)							28	27	27					19																	36340183		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340183G>A		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.795C>T	19.37:g.36340183G>A						NPHS1_ENST00000353632.6_Silent_p.C265C	p.C265C	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	794	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		265		C -> R (in NPHS1).	Ig-like C2-type 3.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.795C>T	CCDS32996.1																																																																																				0.657	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			13	31	0	0	0	1	0	13	31					A	36340183	G	A	36340183	2	1	268	1	0	0	0	0	0	0	0	1	10582	1079	38	1		1	NPHS1	19	36340183	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1089211	36340183	22788800	128	29494											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643516	38643516	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccccctgctatctcttgaTccccacttcagccacgatgg	6	18	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:38643516T>C	ENST00000222345.6	+	13	4079	c.3570T>C	c.(3568-3570)gaT>gaC	p.D1190D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1190					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)			TATCTCTTGATCCCCACTTCA	0.617																																						ENST00000222345.6																			0				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						c.(3568-3570)gaT>gaC		signal-induced proliferation-associated 1 like 3							155	145	148					19																	38643516		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643516T>C	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.3570T>C	19.37:g.38643516T>C							p.D1190D	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4079	+			1190					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.3570T>C	CCDS33007.1																																																																																				0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		39	149	0	0	0	1	0	39	149					C	38643516	T	C	38643516	2	2	268	1	0	0	0	0	0	0	0	1	14331	1432	50	3		3	SIPA1L3	19	38643516	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2303333	38643516	20485467	129	29495											
PSG6	5675	broad.mit.edu	37	chr19	43411958	43411958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctaacacatccttcttcTccctggggtttaagttgttg	9	10	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43411958T>C	ENST00000292125.2	-	4	799	c.755A>G	c.(754-756)gAg>gGg	p.E252G	PSG6_ENST00000187910.2_Missense_Mutation_p.E252G|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	252	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)				ATCCTTCTTCTCCCTGGGGTT	0.502																																						ENST00000187910.2																			0				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						c.(754-756)gAg>gGg		pregnancy specific beta-1-glycoprotein 6							290	276	281					19																	43411958		2201	4298	6499	SO:0001583	missense	5675							g.chr19:43411958T>C		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.755A>G	19.37:g.43411958T>C	ENSP00000292125:p.Glu252Gly					PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.E252G	p.E252G	NM_001031850.3	NP_001027020.1					4	820	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.755A>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	10.43	1.348532	0.24426	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.36699	1.24;1.26	1.42	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66577	0.2803	H	0.96970	3.915	0.18873	N	0.999988	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.52990	-0.8501	9	0.51188	T	0.08	.	4.9767	0.14144	0.0:0.0:0.0:1.0	.	252;252	Q00889;Q00889-2	PSG6_HUMAN;.	G	252	ENSP00000187910:E252G;ENSP00000292125:E252G	ENSP00000187910:E252G	E	-	2	0	PSG6	48103798	0.009000	0.17119	0.006000	0.13384	0.029000	0.11900	0.768000	0.26590	0.660000	0.30964	0.113000	0.15668	GAG		0.502	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		5	219	0	0	0	1	0	5	219					C	43411958	T	C	43411958	3	2	268	1	0	0	0	0	1	0	0	0	12659	1551	54	3	603	3	PSG6	19	43411958	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4768442	43411958	15717025	130	29496											
PTPRH	5794	broad.mit.edu	37	chr19	55708772	55708772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcattctggagatctgtgAcctcattgggagctgagaag	12	7	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:55708772A>C	ENST00000376350.3	-	9	1725	c.1703T>G	c.(1702-1704)gTc>gGc	p.V568G	PTPRH_ENST00000263434.5_Missense_Mutation_p.V390G|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	568	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)		GAGATCTGTGACCTCATTGGG	0.552																																						ENST00000376350.3																			0				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						c.(1702-1704)gTc>gGc		protein tyrosine phosphatase, receptor type, H							61	65	64					19																	55708772		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708772A>C		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.1703T>G	19.37:g.55708772A>C	ENSP00000365528:p.Val568Gly					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V390G	p.V568G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1725	-		Renal(1328;0.245)	568			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1703T>G	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867495	0.51588	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.59772	0.24;0.24	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75671	0.3881	M	0.81802	2.56	0.29804	N	0.832212	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.99;0.998	T	0.73541	-0.3950	9	0.87932	D	0	.	11.1201	0.48284	1.0:0.0:0.0:0.0	.	390;390;568	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	G	568;390	ENSP00000365528:V568G;ENSP00000263434:V390G	ENSP00000263434:V390G	V	-	2	0	PTPRH	60400584	0.304000	0.24472	0.043000	0.18650	0.005000	0.04900	2.474000	0.45154	1.963000	0.57068	0.533000	0.62120	GTC		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			3	77	0	0	0	1	0	3	77					C	55708772	A	C	55708772	3	2	268	1	0	0	0	0	1	0	0	0	12803	275	10	5	1692	5	PTPRH	19	55708772	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12296814	55708772	3420211	131	29497											
ZNF17	7565	broad.mit.edu	37	chr19	57932608	57932608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactagggaaagaacttacaAatgcagcaaatgtgggaaat	10	6	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:57932608A>G	ENST00000601808.1	+	3	1961	c.1748A>G	c.(1747-1749)aAa>aGa	p.K583R	ZNF17_ENST00000307658.7_Missense_Mutation_p.K585R|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	583					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(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGAACTTACAAATGCAGCAAA	0.428																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1753-1755)aAa>aGa		zinc finger protein 17							53	54	53					19																	57932608		2084	4246	6330	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932608A>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1748A>G	19.37:g.57932608A>G	ENSP00000471905:p.Lys583Arg					AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.K583R	p.K585R			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	2017	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	583					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1754A>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609717	0.46527	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.35	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36717	0.0977	L	0.58969	1.84	0.09310	N	1	P;P	0.48694	0.914;0.478	P;B	0.49252	0.604;0.16	T	0.20571	-1.0271	8	0.48119	T	0.1	.	2.6185	0.04910	0.6302:0.0:0.1382:0.2316	.	585;583	P17021-2;P17021	.;ZNF17_HUMAN	R	583	.	ENSP00000302455:K583R	K	+	2	0	ZNF17	62624420	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.104000	0.10923	0.127000	0.18452	0.383000	0.25322	AAA		0.428	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		9	31	0	0	0	1	0	9	31					G	57932608	A	G	57932608	3	3	268	1	0	0	0	0	1	0	0	0	17740	14	1	3	1758	3	ZNF17	19	57932608	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	2223836	57932608	1196375	132	29498											
TGM6	343641	broad.mit.edu	37	chr20	2411182	2411182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgccatgtgccttgTcaccaaaggagagaagcttc	12	10	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:2411182T>C	ENST00000202625.2	+	11	1830	c.1769T>C	c.(1768-1770)gTc>gCc	p.V590A	TGM6_ENST00000381423.1_Missense_Mutation_p.V590A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	590					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGCCTTGTCACCAAAGGA	0.458																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1768-1770)gTc>gCc		transglutaminase 6	L-Glutamine(DB00130)						104	87	93					20																	2411182		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411182T>C	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1769T>C	20.37:g.2411182T>C	ENSP00000202625:p.Val590Ala					TGM6_ENST00000381423.1_Missense_Mutation_p.V590A	p.V590A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			11	1830	+			590					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1769T>C	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991716	0.54041	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.78246	-1.16;-1.16	5.88	5.88	0.94601	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.205007	0.43416	D	0.000577	T	0.75525	0.3861	M	0.66939	2.045	0.31558	N	0.657886	B;B	0.33266	0.404;0.4	B;B	0.33254	0.16;0.103	T	0.79327	-0.1849	10	0.44086	T	0.13	-46.5442	12.6797	0.56914	0.0:0.0:0.0:1.0	.	590;590	O95932-2;O95932	.;TGM3L_HUMAN	A	590	ENSP00000202625:V590A;ENSP00000370831:V590A	ENSP00000202625:V590A	V	+	2	0	TGM6	2359182	0.844000	0.29557	0.999000	0.59377	0.591000	0.36615	2.941000	0.49011	2.242000	0.73789	0.533000	0.62120	GTC		0.458	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	57	0	0	0	1	0	4	57					C	2411182	T	C	2411182	3	2	268	1	0	0	0	0	1	0	0	0	15831	1667	58	3	1811	3	TGM6	20	2411182	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		2411182	60614338	133	29499											
TPX2	22974	broad.mit.edu	37	chr20	30388772	30388772	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taacttttccttactttgcaGgtgcataaggcaaatccaat	6	9	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:30388772G>C	ENST00000300403.6	+	18	2661		c.e18-1		TPX2_ENST00000340513.4_Splice_Site	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated						activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTACTTTGCAGGTGCATAAGG	0.398																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.e19-1		TPX2, microtubule-associated							177	158	164					20																	30388772		2203	4300	6503	SO:0001630	splice_region_variant	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30388772G>C	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2134-1G>C	20.37:g.30388772G>C						TPX2_ENST00000300403.6_Splice_Site				Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		19	2769	+								Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Splice_Site	SNP	ENST00000300403.6	37		CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632855	0.67015	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9537	0.89062	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPX2	29852433	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.797000	0.85911	2.714000	0.92807	0.561000	0.74099	.		0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		Intron	9	142	0	0	0	1	0	9	142					C	30388772	G	C	30388772	5	2	268	1	0	0	0	0	0	0	1	0	16429	1014	35	4	2195	4	TPX2	20	30388772	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	27977590	30388772	32636748	134	29500											
COL20A1	57642	broad.mit.edu	37	chr20	61960983	61960983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccctgggcagcagggGgctagcacccagggcctctg	17	14	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:61960983G>A	ENST00000358894.6	+	35	3928	c.3828G>A	c.(3826-3828)ggG>ggA	p.G1276G	COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000422202.1_Silent_p.G1289G|COL20A1_ENST00000326996.6_Silent_p.G1308G|COL20A1_ENST00000435874.1_Silent_p.G1289G	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1276					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)					GGCAGCAGGGGGCTAGCACCC	0.662																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3865-3867)ggG>ggA		collagen, type XX, alpha 1							26	30	29					20																	61960983		1983	4144	6127	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61960983G>A	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.3828G>A	20.37:g.61960983G>A						COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000435874.1_Silent_p.G1289G|COL20A1_ENST00000358894.6_Silent_p.G1276G|COL20A1_ENST00000326996.6_Silent_p.G1308G	p.G1289G			Q9P218	COKA1_HUMAN			34	3935	+	all_cancers(38;1.39e-10)		1276					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3867G>A	CCDS46628.1																																																																																				0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		4	21	0	0	0	1	0	4	21					A	61960983	G	A	61960983	2	1	268	1	0	0	0	0	0	0	0	1	3679	1219	43	2		2	COL20A1	20	61960983	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	31572211	61960983	1064537	135	29501											
ZNF512B	57473	broad.mit.edu	37	chr20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcttttggccgccccTttttcttcccttctgtcttg	7	15	4	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(220-222)aAg>aGg		zinc finger protein 512B							132	131	131					20																	62598777		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598777T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.221A>G	20.37:g.62598777T>C	ENSP00000393795:p.Lys74Arg					ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R	p.K74R			Q96KM6	Z512B_HUMAN			3	281	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		74					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.221A>G	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861503	0.91433	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.052827	0.64402	D	0.000001	T	0.54351	0.1853	L	0.29908	0.895	0.35311	D	0.783854	D	0.76494	0.999	D	0.63283	0.913	T	0.67473	-0.5662	10	0.87932	D	0	-24.5009	13.9406	0.64052	0.0:0.0:0.0:1.0	.	74	Q96KM6	Z512B_HUMAN	R	74	ENSP00000358904:K74R;ENSP00000393795:K74R;ENSP00000217130:K74R	ENSP00000217130:K74R	K	-	2	0	ZNF512B	62069221	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	6.885000	0.75606	2.032000	0.59987	0.459000	0.35465	AAG		0.632	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		4	150	0	0	0	1	0	4	150					C	62598777	T	C	62598777	3	2	268	1	0	0	0	0	1	0	0	0	17954	1609	56	3	2517	3	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	637794	62598777	426743	136	29502											
OSBP2	23762	broad.mit.edu	37	chr22	31137232	31137232	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acggaggactcttgtggtatCttgctgaccagtggggccag	15	9	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:31137232C>G	ENST00000332585.6	+	2	833	c.729C>G	c.(727-729)atC>atG	p.I243M	OSBP2_ENST00000382310.3_Missense_Mutation_p.I243M|OSBP2_ENST00000403222.3_Missense_Mutation_p.I78M|OSBP2_ENST00000407373.1_Missense_Mutation_p.I70M|OSBP2_ENST00000446658.2_Missense_Mutation_p.I243M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	243	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTTGTGGTATCTTGCTGACCA	0.597																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(727-729)atC>atG		oxysterol binding protein 2							47	51	50					22																	31137232		2037	4176	6213	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31137232C>G		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.729C>G	22.37:g.31137232C>G	ENSP00000332576:p.Ile243Met					OSBP2_ENST00000446658.2_Missense_Mutation_p.I243M|OSBP2_ENST00000407373.1_Missense_Mutation_p.I70M|OSBP2_ENST00000403222.3_Missense_Mutation_p.I78M|OSBP2_ENST00000382310.3_Missense_Mutation_p.I243M	p.I243M	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			2	833	+			243			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.729C>G	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182143	0.57800	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.76316	0.84;0.85;-1.01;-1.01;-1.01	5.17	1.86	0.25419	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.66297	2.02	0.80722	D	1	D;P;P;D;D	0.63046	0.992;0.93;0.93;0.983;0.983	D;P;P;D;D	0.68483	0.937;0.753;0.753;0.958;0.958	T	0.81918	-0.0713	10	0.54805	T	0.06	-30.9013	8.1574	0.31178	0.0:0.6205:0.0:0.3795	.	243;78;70;243;243	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	M	78;78;70;243;243;243	ENSP00000384213:I78M;ENSP00000385237:I70M;ENSP00000332576:I243M;ENSP00000371747:I243M;ENSP00000392080:I243M	ENSP00000332576:I243M	I	+	3	3	OSBP2	29467232	0.115000	0.22152	0.948000	0.38648	0.943000	0.58893	-0.297000	0.08276	1.111000	0.41721	0.462000	0.41574	ATC		0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		4	65	0	0	0	1	0	4	65					G	31137232	C	G	31137232	3	3	268	1	0	0	0	0	1	0	0	0	11274	903	32	4	735	4	OSBP2	22	31137232	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		31137232	20167334	137	29503											
APOBEC3F	200316	broad.mit.edu	37	chr22	39439012	39439012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagacccatcctttctcgtCggaataccgtctggctgtgc	9	13	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:39439012C>T	ENST00000308521.5	+	2	445	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.R30W	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	30					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|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)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTTTCTCGTCGGAATACCGT	0.488																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(88-90)Cgg>Tgg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							62	58	59					22																	39439012		2203	4297	6500	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39439012C>T	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.88C>T	22.37:g.39439012C>T	ENSP00000309749:p.Arg30Trp					APOBEC3F_ENST00000381565.2_Missense_Mutation_p.R30W|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	p.R30W	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			2	445	+	Melanoma(58;0.04)		30					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.88C>T	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	7.458	0.644087	0.14451	.	.	ENSG00000128394	ENST00000308521;ENST00000381565	T;T	0.68765	-0.35;1.06	1.82	0.695	0.18070	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.78033	0.4220	M	0.81179	2.53	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.984	T	0.63180	-0.6695	9	0.59425	D	0.04	.	5.2123	0.15325	0.3424:0.6576:0.0:0.0	.	30;30	Q8IUX4;Q6ICH3	ABC3F_HUMAN;.	W	30	ENSP00000309749:R30W;ENSP00000370977:R30W	ENSP00000309749:R30W	R	+	1	2	APOBEC3F	37768958	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.562000	0.05950	0.282000	0.22254	0.561000	0.74099	CGG		0.488	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		5	23	0	0	0	1	0	5	23					T	39439012	C	T	39439012	3	4	268	1	0	0	0	0	1	0	0	0	793	875	31	1	94	1	APOBEC3F	22	39439012	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8301780	39439012	11865554	138	29504											
MSL3	10943	broad.mit.edu	37	chrX	11783854	11783854	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctggaaaagagtaggTtcattctcgggtgccccagg	13	10	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:11783854T>C	ENST00000312196.4	+	9	1276				MSL3_ENST00000380693.3_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000337339.2_Missense_Mutation_p.F393L|MSL3_ENST00000361672.2_Intron	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AAAGAGTAGGTTCATTCTCGG	0.587																																						ENST00000337339.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1177-1179)Ttc>Ctc		male-specific lethal 3 homolog (Drosophila)							107	92	97					X																	11783854		2203	4300	6503	SO:0001627	intron_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783854T>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+6T>C	X.37:g.11783854T>C						MSL3_ENST00000312196.4_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron	p.F393L	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1204	+			0					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1177T>C	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	T	6.813	0.519126	0.13005	.	.	ENSG00000005302	ENST00000337339	T	0.05855	3.38	4.32	4.32	0.51571	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	8	.	.	.	.	13.0401	0.58895	0.0:0.0:0.0:1.0	.	393	A6NHW8	.	L	393	ENSP00000338078:F393L	.	F	+	1	0	MSL3	11693775	0.998000	0.40836	0.915000	0.36163	0.812000	0.45895	2.345000	0.44018	1.515000	0.48885	0.486000	0.48141	TTC		0.587	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		22	100	0	0	0	1	0	22	100					C	11783854	T	C	11783854	1	2	268	0	1	0	0	0	0	0	0	0	9879	1725	60	3		3	MSL3	23	11783854	Intron	SNP	T	TCGA-HT-7688-01A-11D-2253-08		11783854	143486706	139	29505											
ATRX	546	broad.mit.edu	37	chrX	76875860	76875861	+	Splice_Site	DEL	CA	CA	-													cataatcagagatattaactCacactcaattaggttatttt							TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:76875860_76875861delCA	ENST00000373344.5	-	20	5487		c.e20+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						GATATTAACTCACACTCAATTA	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e20+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875860_76875861delCA	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.5272+1TG>-	X.37:g.76875862_76875863delCA						ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5487	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL	ENST00000373344.5	37		CCDS14434.1																																																																																				0.317	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	9	34						9	34	---	---	---	---	-	76875861	CA	-	76875860	8	5	268	1	0	1	0	1	0	0	1	0	1208	841	29	0		0	ATRX	23	76875860	Splice_Site	DEL	CA	TCGA-HT-7688-01A-11D-2253-08	65092006	76875860	78394700	140	29506											
LHFPL1	340596	broad.mit.edu	37	chrX	111914407	111914407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgggatggcattgaagctgGcatagcgcccacattcttcc	11	11	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:111914407G>C	ENST00000371968.3	-	2	451	c.212C>G	c.(211-213)gCc>gGc	p.A71G	LHFPL1_ENST00000536453.1_Missense_Mutation_p.A71G|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	71						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATTGAAGCTGGCATAGCGCCC	0.592																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(211-213)gCc>gGc		lipoma HMGIC fusion partner-like 1							134	118	124					X																	111914407		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914407G>C	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.212C>G	X.37:g.111914407G>C	ENSP00000361036:p.Ala71Gly					LHFPL1_ENST00000536453.1_Missense_Mutation_p.A71G|LHFPL1_ENST00000478229.1_Intron	p.A71G	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	451	-			71					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.212C>G	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393041	0.83011	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73575	-0.76;-0.76	5.29	5.29	0.74685	.	0.051060	0.85682	D	0.000000	D	0.85383	0.5684	M	0.77820	2.39	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.79108	0.986;0.992	D	0.84888	0.0835	10	0.38643	T	0.18	-32.508	15.1347	0.72555	0.0:0.0:1.0:0.0	.	71;71	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	G	71	ENSP00000361036:A71G;ENSP00000444573:A71G	ENSP00000361036:A71G	A	-	2	0	LHFPL1	111801063	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.456000	0.83038	0.600000	0.82982	GCC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		3	57	0	0	0	1	0	3	57					C	111914407	G	C	111914407	3	2	268	1	0	0	0	0	1	0	0	0	8764	1203	42	4	462	4	LHFPL1	23	111914407	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	35038547	111914407	43356153	141	29507											
FRMD7	90167	broad.mit.edu	37	chrX	131212491	131212491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctacatagctatgtggActtgtcctttcctctgctct	8	12	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:131212491A>G	ENST00000298542.4	-	12	1729	c.1554T>C	c.(1552-1554)agT>agC	p.S518S	FRMD7_ENST00000370879.1_Silent_p.S398S|FRMD7_ENST00000464296.1_Silent_p.S503S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	518					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTATGTGGACTTGTCCTTT	0.493																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1552-1554)agT>agC		FERM domain containing 7							162	158	159					X																	131212491		2203	4300	6503	SO:0001819	synonymous_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212491A>G	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1554T>C	X.37:g.131212491A>G						FRMD7_ENST00000370879.1_Silent_p.S398S|FRMD7_ENST00000464296.1_Silent_p.S503S	p.S518S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1729	-	Acute lymphoblastic leukemia(192;0.000127)		518					C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	c.1554T>C	CCDS35397.1																																																																																				0.493	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		3	84	0	0	0	1	0	3	84					G	131212491	A	G	131212491	2	3	268	1	0	0	0	0	0	0	0	1	6055	272	10	3		3	FRMD7	23	131212491	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	19298084	131212491	24058069	142	29508											
FMR1NB	158521	broad.mit.edu	37	chrX	147084823	147084823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcattggaagctttgctgaAttttttctttccaacaagta	7	8	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:147084823A>G	ENST00000370467.3	+	2	454	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTT	0.373																																						ENST00000370467.3																			1	Insertion - Frameshift(1)	p.F130fs*17(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(379-381)aAt>aGt		fragile X mental retardation 1 neighbor							98	89	92					X																	147084823		2203	4299	6502	SO:0001583	missense	158521					integral to membrane		g.chrX:147084823A>G		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.380A>G	X.37:g.147084823A>G	ENSP00000359498:p.Asn127Ser						p.N127S	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			2	454	+	Acute lymphoblastic leukemia(192;6.56e-05)		127			P-type.		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.380A>G	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	A	8.613	0.889635	0.17540	.	.	ENSG00000176988	ENST00000370467	T	0.45276	0.9	4.94	-9.88	0.00467	.	2.316320	0.01768	N	0.031027	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.10520	-1.0626	10	0.17832	T	0.49	0.5734	9.7741	0.40607	0.7094:0.0:0.1067:0.1839	.	127	Q8N0W7	FMR1N_HUMAN	S	127	ENSP00000359498:N127S	ENSP00000359498:N127S	N	+	2	0	FMR1NB	146892515	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.497000	0.06428	-2.799000	0.00353	-1.033000	0.02402	AAT		0.373	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		5	22	0	0	0	1	0	5	22					G	147084823	A	G	147084823	3	3	268	1	0	0	0	0	1	0	0	0	5961	101	4	3	386	3	FMR1NB	23	147084823	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15872332	147084823	8185737	143	29509											
UTY	7404	broad.mit.edu	37	chrY	15522901	15522901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagacttgtagtctgtgttcActttgaacatgagcccaagt	9	8	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrY:15522901A>G	ENST00000331397.4	-	6	1534	c.527T>C	c.(526-528)gTg>gCg	p.V176A	UTY_ENST00000382893.1_Missense_Mutation_p.V176A|UTY_ENST00000540140.1_Missense_Mutation_p.V176A|UTY_ENST00000545955.1_Missense_Mutation_p.V176A|UTY_ENST00000329134.5_Missense_Mutation_p.V176A|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000538878.1_Missense_Mutation_p.V176A|UTY_ENST00000537580.1_Missense_Mutation_p.V176A|UTY_ENST00000382896.4_Missense_Mutation_p.V176A|UTY_ENST00000362096.4_Missense_Mutation_p.V176A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	176					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GTCTGTGTTCACTTTGAACAT	0.413																																					Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.(526-528)gTg>gCg		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked																																				SO:0001583	missense	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15522901A>G	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.527T>C	Y.37:g.15522901A>G	ENSP00000328939:p.Val176Ala					UTY_ENST00000538878.1_Missense_Mutation_p.V176A|UTY_ENST00000329134.5_Missense_Mutation_p.V176A|UTY_ENST00000545955.1_Missense_Mutation_p.V176A|UTY_ENST00000537580.1_Missense_Mutation_p.V176A|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000540140.1_Missense_Mutation_p.V176A|UTY_ENST00000382893.1_Missense_Mutation_p.V176A|UTY_ENST00000382896.4_Missense_Mutation_p.V176A|UTY_ENST00000362096.4_Missense_Mutation_p.V176A	p.V176A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			6	1534	-			176					A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.527T>C	CCDS14783.1																																																																																				0.413	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660		18	29	0	0	0	1	0	18	29					G	15522901	A	G	15522901	3	3	268	1	0	0	0	0	1	0	0	0	17104	159	6	3	3871	3	UTY	24	15522901	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		15522901	43850665	144	29510											
ATAD3C	219293	broad.mit.edu	37	chr1	1386075	1386075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccatgtcaaaggaCgccctgaatctggcgcagat	12	12	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	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;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)		TGTCAAAGGACGCCCTGAATC	0.642																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(10-12)gaC>gaT		ATPase family, AAA domain containing 3C							31	28	29					1																	1386075		692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1386075C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T							p.D4D	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		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)	1	1007	+	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)	4					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.12C>T	CCDS44039.1																																																																																				0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		4	18	0	0	0	1	0	4	18					T	1386075	C	T	1386075	2	4	269	1	0	0	0	0	0	0	0	1	1075	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08		1386075	247864546	1	29511											
OBSCN	84033	broad.mit.edu	37	chr1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtggagggggatgacCgcgccttcgaggtgtggcag	19	9	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	ENST00000422127.1	+	74	17943	c.17899C>T	c.(17899-17901)Cgc>Tgc	p.R5967C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6924C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				GGGGGATGACCGCGCCTTCGA	0.637																																						ENST00000570156.2																			0				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						c.(20770-20772)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							35	44	41					1																	228529180		2120	4219	6339	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228529180C>T	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.17899C>T	1.37:g.228529180C>T	ENSP00000409493:p.Arg5967Cys					OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967C	p.R6924C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			85	20844	+		Prostate(94;0.0405)	5967					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20770C>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.760478|3.760478	0.69763|0.69763	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|T;T;T;T	.|0.11063	.|2.81;2.81;2.81;2.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069794	.|0.64402	.|D	.|0.000018	T|T	0.23014|0.23014	0.0556|0.0556	L|L	0.37630|0.37630	1.12|1.12	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.69307	.|0.92;0.963	T|T	0.00197|0.00197	-1.1930|-1.1930	5|10	.|0.66056	.|D	.|0.02	.|.	14.4604|14.4604	0.67445|0.67445	0.1471:0.8529:0.0:0.0|0.1471:0.8529:0.0:0.0	.|.	.|5967;5967	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	L|C	583|5967;5967;3601;3086	.|ENSP00000284548:R5967C;ENSP00000409493:R5967C;ENSP00000355668:R3601C;ENSP00000355670:R3086C	.|ENSP00000284548:R5967C	P|R	+|+	2|1	0|0	OBSCN|OBSCN	226595803|226595803	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.199000|0.199000	0.23934|0.23934	2.916000|2.916000	0.48813|0.48813	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	21	0	0	0	1	0	12	21					T	228529180	C	T	228529180	3	4	269	1	0	0	0	0	1	0	0	0	10812	652	23	1	18189	1	OBSCN	1	228529180	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	227143105	228529180	20721441	2	29512											
EIF2B4	8890	broad.mit.edu	37	chr2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgcttggctcgacGctcagcccgaagttcggcct	12	16	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	ENST00000347454.4	-	4	481	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000542478.1_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C|SNX17_ENST00000537606.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000493344.2_Missense_Mutation_p.R125C|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	104					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|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)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(373-375)Cgt>Tgt		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							80	77	78					2																	27591981		2203	4300	6503	SO:0001583	missense	0				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27591981G>A	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.310C>T	2.37:g.27591981G>A	ENSP00000233552:p.Arg104Cys					EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R104C	p.R125C			Q9UI10	EI2BD_HUMAN			3	685	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		104					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.373C>T	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812342	0.70912	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.27	2.37	0.29283	.	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999	D;P;P;P;P	0.69307	0.963;0.781;0.781;0.609;0.855	D	0.96740	0.9546	10	0.87932	D	0	-15.954	13.2573	0.60087	0.0:0.0:0.4368:0.5632	.	97;101;103;104;124	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	C	104;101;103;124;125	ENSP00000233552:R104C;ENSP00000394397:R103C;ENSP00000394869:R124C;ENSP00000429323:R125C	ENSP00000233552:R104C	R	-	1	0	EIF2B4	27445485	1.000000	0.71417	0.962000	0.40283	0.704000	0.40688	1.271000	0.33098	0.316000	0.23135	0.561000	0.74099	CGT		0.602	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			59	108	0	0	0	1	0	59	108					A	27591981	G	A	27591981	3	1	269	1	0	0	0	0	1	0	0	0	5003	1087	38	1	1301	1	EIF2B4	2	27591981	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		27591981	215607392	3	29513											
PROKR1	10887	broad.mit.edu	37	chr2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgccctgctggccatcGccattgacaggtgagtgcag	12	13	0	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	ENST00000303786.3	+	2	895	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	159					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						GCTGGCCATCGCCATTGACAG	0.592																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(475-477)Gcc>Acc		prokineticin receptor 1							66	62	63					2																	68873428		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873428G>A	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.475G>A	2.37:g.68873428G>A	ENSP00000303775:p.Ala159Thr					PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T	p.A159T			Q8TCW9	PKR1_HUMAN			2	895	+			159					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.475G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665439	0.88251	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.76186	-1.0;-1.0	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.142971	0.64402	D	0.000006	D	0.83390	0.5244	L	0.58302	1.8	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.84252	0.0478	10	0.66056	D	0.02	.	16.3321	0.83039	0.0:0.0:1.0:0.0	.	159	Q8TCW9	PKR1_HUMAN	T	159	ENSP00000303775:A159T;ENSP00000377874:A159T	ENSP00000303775:A159T	A	+	1	0	PROKR1	68726932	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	7.559000	0.82265	2.814000	0.96858	0.650000	0.86243	GCC		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			20	95	0	0	0	1	0	20	95					A	68873428	G	A	68873428	3	1	269	1	0	0	0	0	1	0	0	0	12552	1087	38	1	477	1	PROKR1	2	68873428	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	41281447	68873428	174325945	4	29514											
TTN	7273	broad.mit.edu	37	chr2	179641277	179641277	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagtaatgataccacTgtctctagaatatgcaacgc	7	10	2	2	rs150725992	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:179641277T>A	ENST00000591111.1	-	28	5538	c.5314A>T	c.(5314-5316)Agt>Tgt	p.S1772C	TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C|TTN_ENST00000589042.1_Missense_Mutation_p.S1772C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C			Q8WZ42	TITIN_HUMAN	titin	12606	Ig-like 8.		S -> G. {ECO:0000269|PubMed:17344846}.		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)			ATGATACCACTGTCTCTAGAA	0.428																																						ENST00000589042.1																			0				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						c.(5314-5316)Agt>Tgt		titin							88	78	81					2																	179641277		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641277T>A	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.5314A>T	2.37:g.179641277T>A	ENSP00000465570:p.Ser1772Cys					TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C|TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN_ENST00000591111.1_Missense_Mutation_p.S1772C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C	p.S1772C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5538	-			1525		S -> G.	Ig-like 8.		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	ENST00000591111.1	37	c.5314A>T		.	.	.	.	.	.	.	.	.	.	T	11.16	1.558031	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	4.95	4.95	0.65309	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87533	0.6201	H	0.96662	3.86	0.38608	D	0.950822	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.92629	0.6114	9	0.87932	D	0	.	14.6015	0.68445	0.0:0.0:0.0:1.0	.	1726;1726;1726;1772;1772	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1772;1726;1726;1726;1726;1772	ENSP00000343764:S1772C;ENSP00000434586:S1726C;ENSP00000340554:S1726C;ENSP00000352154:S1726C;ENSP00000354117:S1772C	ENSP00000340554:S1726C	S	-	1	0	TTN	179349522	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.915000	0.87484	1.869000	0.54173	0.459000	0.35465	AGT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	75	0	0	0	1	0	3	75					A	179641277	T	A	179641277	3	1	269	1	0	0	0	0	1	0	0	0	16732	1580	55	5	106014	5	TTN	2	179641277	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	110767849	179641277	63558096	5	29515											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	72	0	0	0	1	0	30	72					T	209113112	C	T	209113112	3	4	269	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29471835	209113112	34086261	6	29516											
MLPH	79083	broad.mit.edu	37	chr2	238449504	238449504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccccaggaccctggggaCcccgtccagtacaacaggac	11	17	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	ENST00000264605.3	+	11	1644	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000409373.1_Intron|MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000410032.1_Silent_p.D307D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	450					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)		ACCCTGGGGACCCCGTCCAGT	0.607																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1348-1350)gaC>gaT		melanophilin							52	52	52					2																	238449504		2203	4298	6501	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238449504C>T	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.1350C>T	2.37:g.238449504C>T						MLPH_ENST00000409373.1_Intron|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000410032.1_Silent_p.D307D|MLPH_ENST00000468178.1_3'UTR	p.D450D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		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)	11	1644	+		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)	450					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.1350C>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	3.888	-0.024652	0.07589	.	.	ENSG00000115648	ENST00000436965	.	.	.	4.86	1.7	0.24286	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.18650	-1.0330	4	.	.	.	-9.8058	2.3097	0.04183	0.3588:0.386:0.1554:0.0998	.	.	.	.	I	171	.	.	T	+	2	0	MLPH	238114243	0.002000	0.14202	0.002000	0.10522	0.036000	0.12997	-0.169000	0.09911	1.026000	0.39733	0.655000	0.94253	ACC		0.607	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		8	24	0	0	0	1	0	8	24					T	238449504	C	T	238449504	2	4	269	1	0	0	0	0	0	0	0	1	9633	506	18	2		2	MLPH	2	238449504	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29336392	238449504	4749869	7	29517											
RAB17	64284	broad.mit.edu	37	chr2	238483770	238483770	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctgcagtagctcttgGgctgtgaacagcaagaggag	13	9	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	ENST00000264601.3	-	6	1160	c.531C>T	c.(529-531)gcC>gcT	p.A177A	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Splice_Site_p.A50A|RAB17_ENST00000409822.1_Splice_Site_p.A50A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.e6-1		RAB17, member RAS oncogene family							30	32	31					2																	238483770		2203	4300	6503	SO:0001630	splice_region_variant	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238483770G>A	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.530-1C>T	2.37:g.238483770G>A						RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.A50_splice|RAB17_ENST00000538644.1_Splice_Site_p.A50_splice	p.A177_splice	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	6	1160	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	177					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Splice_Site	SNP	ENST00000264601.3	37	c.529_splice	CCDS2520.1																																																																																				0.667	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2		Silent	16	31	0	0	0	1	0	16	31					A	238483770	G	A	238483770	5	1	269	1	0	0	0	0	0	0	1	0	12902	1246	43	2	111	2	RAB17	2	238483770	Splice_Site	SNP	G	TCGA-HT-7689-01A-11D-2253-08	34266	238483770	4715603	8	29518											
BSN	8927	broad.mit.edu	37	chr3	49692138	49692138	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagcccttggttatcAacctcaatgcccaggagcat	9	14	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	ENST00000296452.4	+	5	5263	c.5149A>T	c.(5149-5151)Aac>Tac	p.N1717Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1717					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)		CTTGGTTATCAACCTCAATGC	0.567																																						ENST00000296452.4																			0				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						c.(5149-5151)Aac>Tac		bassoon presynaptic cytomatrix protein							150	143	145					3																	49692138		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692138A>T	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.5149A>T	3.37:g.49692138A>T	ENSP00000296452:p.Asn1717Tyr						p.N1717Y	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5263	+			1717					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5149A>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597525	0.46318	.	.	ENSG00000164061	ENST00000296452	T	0.47177	0.85	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75266	-0.3378	10	0.72032	D	0.01	.	15.0022	0.71483	1.0:0.0:0.0:0.0	.	1717	Q9UPA5	BSN_HUMAN	Y	1717	ENSP00000296452:N1717Y	ENSP00000296452:N1717Y	N	+	1	0	BSN	49667142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.960000	0.56953	0.459000	0.35465	AAC		0.567	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	261	0	0	0	1	0	10	261					T	49692138	A	T	49692138	3	4	269	1	0	0	0	0	1	0	0	0	1530	130	5	5	5167	5	BSN	3	49692138	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		49692138	148330292	9	29519											
ITIH4	3700	broad.mit.edu	37	chr3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccttccacttgtacgcaGagcttcttcggttccgagtc	8	14	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	ENST00000266041.4	-	21	2525	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	810					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2428-2430)tCt>tTt		inter-alpha-trypsin inhibitor heavy chain family, member 4							176	177	177					3																	52850942		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52850942G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2429C>T	3.37:g.52850942G>A	ENSP00000266041:p.Ser810Phe					ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F	p.S810F	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	21	2525	-			810					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.2429C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899467	0.33535	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.47	4.59	0.56863	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.343274	0.25414	N	0.030854	T	0.28366	0.0701	L	0.59436	1.845	0.25589	N	0.986719	D;D;D;P	0.60575	0.988;0.957;0.979;0.889	P;P;P;P	0.59056	0.851;0.851;0.851;0.673	T	0.05649	-1.0872	10	0.72032	D	0.01	-10.533	12.4188	0.55508	0.0:0.1685:0.8315:0.0	.	780;815;810;794	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	F	810;794;815;780;768	ENSP00000266041:S810F;ENSP00000340520:S794F;ENSP00000417824:S815F;ENSP00000384425:S780F	ENSP00000266041:S810F	S	-	2	0	ITIH4	52825982	0.219000	0.23619	0.019000	0.16419	0.028000	0.11728	1.409000	0.34680	1.274000	0.44362	0.561000	0.74099	TCT		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		32	212	0	0	0	1	0	32	212					A	52850942	G	A	52850942	3	1	269	1	0	0	0	0	1	0	0	0	7906	942	33	2	379	2	ITIH4	3	52850942	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3158804	52850942	145171488	10	29520											
PLXNA1	5361	broad.mit.edu	37	chr3	126708270	126708270	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccgccggcgagcacttcttCacgtccaagatcgtgcggct	12	15	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:126708270C>A	ENST00000393409.2	+	1	834	c.834C>A	c.(832-834)ttC>ttA	p.F278L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.F255L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	278	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		AGCACTTCTTCACGTCCAAGA	0.587																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(763-765)ttC>ttA		plexin A1							118	116	117					3																	126708270		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708270C>A	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.834C>A	3.37:g.126708270C>A	ENSP00000377061:p.Phe278Leu					PLXNA1_ENST00000393409.2_Missense_Mutation_p.F278L	p.F255L			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	834	+			278			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.765C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746883	0.69418	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.09911	2.93;2.93	4.25	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	M	0.65677	2.01	0.50467	D	0.999877	D	0.89917	1.0	D	0.79108	0.992	T	0.00740	-1.1586	10	0.51188	T	0.08	.	8.5796	0.33621	0.0:0.8244:0.0:0.1755	.	278	Q9UIW2	PLXA1_HUMAN	L	278;255	ENSP00000377061:F278L;ENSP00000251772:F255L	ENSP00000251772:F255L	F	+	3	2	PLXNA1	128190960	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.853000	0.55941	1.015000	0.39444	0.491000	0.48974	TTC		0.587	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	185	1	0	1	1	1	4	185					A	126708270	C	A	126708270	3	1	269	1	0	0	0	0	1	0	0	0	12119	825	29	4	836	4	PLXNA1	3	126708270	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	73857328	126708270	71314160	11	29521											
PPP2R3A	5523	broad.mit.edu	37	chr3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaccggtttgccgctgagGagtatgagacgcttgttgca	16	8	0	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	ENST00000264977.3	+	13	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1093					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						TGCCGCTGAGGAGTATGAGAC	0.463																																						ENST00000264977.3																			0				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						c.(3277-3279)Gag>Aag		protein phosphatase 2, regulatory subunit B'', alpha							75	76	76					3																	135825112		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135825112G>A	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.3277G>A	3.37:g.135825112G>A	ENSP00000264977:p.Glu1093Lys					PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	p.E1093K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			13	3894	+			1093					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.3277G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	37	6.048081	0.97236	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.42900	0.96;0.96;0.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.76433	2.335	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.67231	0.95;0.911	T	0.66118	-0.6003	10	0.62326	D	0.03	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	472;1093	Q06190-2;Q06190	.;P2R3A_HUMAN	K	1093;357;472	ENSP00000264977:E1093K;ENSP00000419344:E357K;ENSP00000334748:E472K	ENSP00000264977:E1093K	E	+	1	0	PPP2R3A	137307802	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.850000	0.98022	0.650000	0.86243	GAG		0.463	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		28	58	0	0	0	1	0	28	58					A	135825112	G	A	135825112	3	1	269	1	0	0	0	0	1	0	0	0	12388	1175	41	2	3459	2	PPP2R3A	3	135825112	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9116842	135825112	62197318	12	29522											
ATR	545	broad.mit.edu	37	chr3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctaattgcactgactcCggccactccatcaggttcat	6	14	3	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	ENST00000350721.4	-	29	5192	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R	ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1691	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)			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						GCACTGACTCCGGCCACTCCA	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			0				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						c.(5071-5073)Gga>Aga	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							198	198	198					3																	142224106		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142224106C>T	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.5071G>A	3.37:g.142224106C>T	ENSP00000343741:p.Gly1691Arg					ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	p.G1691R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			29	5192	-			1691			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5071G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010810	0.93346	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.59364	0.27;0.27	5.54	5.54	0.83059	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84504	0.0618	10	0.87932	D	0	-21.6109	19.4874	0.95035	0.0:1.0:0.0:0.0	.	1691	Q13535	ATR_HUMAN	R	1691;1627	ENSP00000343741:G1691R;ENSP00000372581:G1627R	ENSP00000343741:G1691R	G	-	1	0	ATR	143706796	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GGA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		29	229	0	0	0	1	0	29	229					T	142224106	C	T	142224106	3	4	269	1	0	0	0	0	1	0	0	0	1204	661	23	1	2939	1	ATR	3	142224106	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	6398994	142224106	55798324	13	29523											
PPP2R2C	5522	broad.mit.edu	37	chr4	6380248	6380248	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactccggctcgtggctctGgaaagtgctgtacacgtcgt	12	11	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:6380248G>A	ENST00000382599.4	-	3	436	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	PPP2R2C_ENST00000335585.5_Nonsense_Mutation_p.Q74*|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	74					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)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCGTGGCTCTGGAAAGTGCTG	0.577																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(220-222)Cag>Tag		protein phosphatase 2, regulatory subunit B, gamma							141	133	136					4																	6380248		2203	4300	6503	SO:0001587	stop_gained	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380248G>A	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.220C>T	4.37:g.6380248G>A	ENSP00000372042:p.Gln74*					PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000382599.4_Nonsense_Mutation_p.Q74*	p.Q74*	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			3	243	-			74					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Nonsense_Mutation	SNP	ENST00000382599.4	37	c.220C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.321095	0.97471	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-62.0485	17.0219	0.86436	0.0:0.0:1.0:0.0	.	.	.	.	X	74;67;57;74;67	.	ENSP00000335083:Q74X	Q	-	1	0	PPP2R2C	6431149	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	8.870000	0.92336	2.576000	0.86940	0.313000	0.20887	CAG		0.577	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		4	140	0	0	0	1	0	4	140					A	6380248	G	A	6380248	4	1	269	1	0	0	0	0	0	1	0	0	12386	1357	47	2	1151	2	PPP2R2C	4	6380248	Nonsense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		6380248	184774028	14	29524											
DRD5	1816	broad.mit.edu	37	chr4	9784872	9784872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcttccacaaggaaatcGcagctgcctacatccacatg	7	14	1	0	rs370199592		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	ENST00000304374.2	+	1	1615	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	407					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAAGGAAATCGCAGCTGCCTA	0.582																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1219-1221)Gca>Aca		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	G	THR/ALA	0,4406		0,0,2203	97	78	85		1219	2.1	0	4		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	DRD5	NM_000798.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	407/478	9784872	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784872G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1219G>A	4.37:g.9784872G>A	ENSP00000306129:p.Ala407Thr						p.A407T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1615	+			407					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1219G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	2.206	-0.381815	0.04966	0.0	1.16E-4	ENSG00000169676	ENST00000304374	T	0.66460	-0.21	4.73	2.12	0.27331	.	0.830667	0.10646	N	0.650402	T	0.48786	0.1519	N	0.24115	0.695	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.27400	-1.0075	10	0.15066	T	0.55	.	9.441	0.38668	0.231:0.0:0.769:0.0	.	407	P21918	DRD5_HUMAN	T	407	ENSP00000306129:A407T	ENSP00000306129:A407T	A	+	1	0	DRD5	9393970	0.933000	0.31639	0.005000	0.12908	0.112000	0.19704	3.695000	0.54749	0.245000	0.21373	-1.502000	0.00957	GCA		0.582	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	68	0	0	0	1	0	4	68					A	9784872	G	A	9784872	3	1	269	1	0	0	0	0	1	0	0	0	4760	1087	38	1	1221	1	DRD5	4	9784872	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3404624	9784872	181369404	15	29525											
SPATA18	132671	broad.mit.edu	37	chr4	52927044	52927044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggaaaatctgttgacaGcaaggtcccctctctgcagg	11	12	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:52927044G>A	ENST00000295213.4	+	3	664	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	97					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTGTTGACAGCAAGGTCCCC	0.478																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(289-291)aGc>aAc		spermatogenesis associated 18							131	106	115					4																	52927044		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52927044G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.290G>A	4.37:g.52927044G>A	ENSP00000295213:p.Ser97Asn					SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N|SPATA18_ENST00000506829.1_Intron	p.S97N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	664	+			97					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.290G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	6.798	0.516211	0.12944	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;D	0.88818	1.98;-2.43	4.67	1.78	0.24846	.	0.362131	0.33217	N	0.005157	T	0.80623	0.4658	L	0.42245	1.32	0.09310	N	1	B;B;B	0.18461	0.004;0.004;0.028	B;B;B	0.16722	0.004;0.004;0.016	T	0.67086	-0.5759	10	0.41790	T	0.15	-4.8611	2.9628	0.05897	0.1:0.1793:0.5358:0.185	.	97;97;97	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	97	ENSP00000295213:S97N;ENSP00000415309:S97N	ENSP00000295213:S97N	S	+	2	0	SPATA18	52621801	0.000000	0.05858	0.003000	0.11579	0.622000	0.37654	0.026000	0.13599	0.211000	0.20683	0.462000	0.41574	AGC		0.478	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		3	51	0	0	0	1	0	3	51					A	52927044	G	A	52927044	3	1	269	1	0	0	0	0	1	0	0	0	15002	971	34	2	300	2	SPATA18	4	52927044	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43142172	52927044	138227232	16	29526											
FAT4	79633	broad.mit.edu	37	chr4	126240610	126240610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgtgaattctcgatTctttaaagtacaagcttctg	7	8	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	ENST00000394329.3	+	1	3057	c.3044T>C	c.(3043-3045)tTc>tCc	p.F1015S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10. {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						AATTCTCGATTCTTTAAAGTA	0.388																																						ENST00000394329.3																			0				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						c.(3043-3045)tTc>tCc		FAT atypical cadherin 4							99	93	95					4																	126240610		1864	4099	5963	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240610T>C	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.3044T>C	4.37:g.126240610T>C	ENSP00000377862:p.Phe1015Ser						p.F1015S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3057	+			1015			Cadherin 10.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3044T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453608	0.63290	.	.	ENSG00000196159	ENST00000394329	T	0.61510	0.1	5.0	5.0	0.66597	Cadherin (3);Cadherin-like (1);	0.000000	0.36268	U	0.002699	T	0.78065	0.4225	M	0.85462	2.755	0.80722	D	1	D	0.62365	0.991	D	0.79108	0.992	T	0.82184	-0.0583	10	0.72032	D	0.01	.	14.9061	0.70721	0.0:0.0:0.0:1.0	.	1015	Q6V0I7	FAT4_HUMAN	S	1015	ENSP00000377862:F1015S	ENSP00000377862:F1015S	F	+	2	0	FAT4	126460060	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.708000	0.84633	2.100000	0.63781	0.533000	0.62120	TTC		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	118	0	0	0	1	0	5	118					C	126240610	T	C	126240610	3	2	269	1	0	0	0	0	1	0	0	0	5692	1783	62	3	3046	3	FAT4	4	126240610	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	73313566	126240610	64913666	17	29527											
SH3RF1	57630	broad.mit.edu	37	chr4	170043326	170043326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctcggtcccattccaGcagcagcagcagcggcggtg	15	14	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	ENST00000284637.9	-	7	1612	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	424	Poly-Ala.				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)		TCCCATTCCAGCAGCAGCAGC	0.597																																						ENST00000284637.9																			0				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						c.(1270-1272)gCt>gTt		SH3 domain containing ring finger 1							53	49	50					4																	170043326		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043326G>A	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.1271C>T	4.37:g.170043326G>A	ENSP00000284637:p.Ala424Val					SH3RF1_ENST00000508685.1_5'UTR	p.A424V	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1612	-		Prostate(90;0.00267)|Renal(120;0.0183)	424			Poly-Ala.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1271C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639876	0.47153	.	.	ENSG00000154447	ENST00000284637	T	0.14766	2.48	5.26	5.26	0.73747	.	0.690550	0.14881	N	0.292952	T	0.17408	0.0418	L	0.50333	1.59	0.20489	N	0.999898	B	0.21821	0.061	B	0.23275	0.045	T	0.14254	-1.0479	10	0.23302	T	0.38	-0.8461	18.8436	0.92194	0.0:0.0:1.0:0.0	.	424	Q7Z6J0	SH3R1_HUMAN	V	424	ENSP00000284637:A424V	ENSP00000284637:A424V	A	-	2	0	SH3RF1	170279901	0.031000	0.19500	0.331000	0.25455	0.684000	0.39900	0.820000	0.27323	2.441000	0.82636	0.484000	0.47621	GCT		0.597	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		4	49	0	0	0	1	0	4	49					A	170043326	G	A	170043326	3	1	269	1	0	0	0	0	1	0	0	0	14258	971	34	2	1419	2	SH3RF1	4	170043326	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43802716	170043326	21110950	18	29528											
KLKB1	3818	broad.mit.edu	37	chr4	187173298	187173298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggagggtcactcatAggacaccagtgggtcctcac	13	11	3	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:187173298A>G	ENST00000264690.6	+	11	1459	c.1272A>G	c.(1270-1272)atA>atG	p.I424M	KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	424	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTCACTCATAGGACACCAGT	0.522																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1270-1272)atA>atG		kallikrein B, plasma (Fletcher factor) 1							95	83	87					4																	187173298		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173298A>G	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1272A>G	4.37:g.187173298A>G	ENSP00000264690:p.Ile424Met					KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	p.I424M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1459	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	424			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1272A>G	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.41|12.41	1.928725|1.928725	0.34002|0.34002	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.96830|.	-4.14;-4.14|.	5.67|5.67	-5.23|-5.23	0.02798|0.02798	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.073356|.	0.56097|.	D|.	0.000026|.	T|.	0.70369|.	0.3216|.	H|H	0.95079|0.95079	3.62|3.62	0.22787|0.22787	N|N	0.998735|0.998735	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;1.0|.	T|.	0.68254|.	-0.5457|.	10|.	0.87932|.	D|.	0|.	.|.	8.4909|8.4909	0.33100|0.33100	0.2161:0.5038:0.0:0.2801|0.2161:0.5038:0.0:0.2801	.|.	386;424;424|.	E7EQA8;A8K9A9;P03952|.	.;.;KLKB1_HUMAN|.	M|W	424;424;386|472	ENSP00000264690:I424M;ENSP00000424469:I424M|.	ENSP00000264690:I424M|.	I|X	+|+	3|2	3|0	KLKB1|KLKB1	187410292|187410292	0.000000|0.000000	0.05858|0.05858	0.039000|0.039000	0.18376|0.18376	0.210000|0.210000	0.24377|0.24377	-1.108000|-1.108000	0.03313|0.03313	-1.053000|-1.053000	0.03218|0.03218	-1.436000|-1.436000	0.01078|0.01078	ATA|TAG		0.522	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		3	105	0	0	0	1	0	3	105					G	187173298	A	G	187173298	3	3	269	1	0	0	0	0	1	0	0	0	8412	410	15	3	1310	3	KLKB1	4	187173298	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	17129972	187173298	3980978	19	29529											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058222	41058222	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggttcaggagccagggcacCtggcccagggcgtatccacg	15	13	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:41058222C>G	ENST00000399564.4	-	7	1149	c.699G>C	c.(697-699)caG>caC	p.Q233H	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	233																	GCCAGGGCACCTGGCCCAGGG	0.532																																						ENST00000399564.4																			0											c.(697-699)caG>caC		maestro heat-like repeat family member 2B							75	74	75					5																	41058222		1911	4112	6023	SO:0001583	missense	133558							g.chr5:41058222C>G		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.699G>C	5.37:g.41058222C>G	ENSP00000382476:p.Gln233His					MROH2B_ENST00000506092.2_5'UTR	p.Q233H	NM_173489.4	NP_775760.3					7	1149	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.699G>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773444	0.31411	.	.	ENSG00000171495	ENST00000399564	T	0.06528	3.29	5.27	3.32	0.38043	Armadillo-type fold (1);	0.131532	0.35179	N	0.003381	T	0.04543	0.0124	L	0.29908	0.895	0.28485	N	0.914766	B	0.14805	0.011	B	0.14578	0.011	T	0.22626	-1.0211	10	0.34782	T	0.22	.	5.1201	0.14856	0.2204:0.6732:0.0:0.1065	.	233	Q7Z745	HTRB2_HUMAN	H	233	ENSP00000382476:Q233H	ENSP00000382476:Q233H	Q	-	3	2	HEATR7B2	41093979	0.962000	0.33011	0.989000	0.46669	0.879000	0.50718	0.510000	0.22723	1.419000	0.47118	0.650000	0.86243	CAG		0.532	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	23	0	0	0	1	0	3	23					G	41058222	C	G	41058222	3	3	269	1	0	0	0	0	1	0	0	0	7035	680	24	4	4202	4	HEATR7B2	5	41058222	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		41058222	139857038	20	29530											
HSD17B4	3295	broad.mit.edu	37	chr5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccaatgactcctgaggcaGtcaaggctaactggaagaag	11	10	1	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	ENST00000256216.6	+	11	938	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000504811.1_Missense_Mutation_p.V294L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000509514.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				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)		TCCTGAGGCAGTCAAGGCTAA	0.473																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(880-882)Gtc>Ctc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						88	86	87					5																	118829578		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118829578G>C		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.805G>C	5.37:g.118829578G>C	ENSP00000256216:p.Val269Leu					HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V269L	p.V294L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	12	1064	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	269			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.880G>C	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177301	0.78564	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.38	5.38	0.77491	.	0.056465	0.64402	D	0.000001	D	0.88463	0.6443	M	0.75150	2.29	0.80722	D	1	B;B;B;B	0.31054	0.101;0.082;0.042;0.306	B;B;B;B	0.24394	0.051;0.018;0.023;0.053	D	0.87438	0.2393	10	0.49607	T	0.09	-15.8602	17.9051	0.88916	0.0:0.0:1.0:0.0	.	294;251;245;269	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	L	269;251;245;294;129;132	ENSP00000256216:V269L;ENSP00000424613:V251L;ENSP00000424940:V245L;ENSP00000420914:V294L;ENSP00000411960:V129L;ENSP00000425993:V132L	ENSP00000256216:V269L	V	+	1	0	HSD17B4	118857477	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	7.536000	0.82023	2.506000	0.84524	0.563000	0.77884	GTC		0.473	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		5	62	0	0	0	1	0	5	62					C	118829578	G	C	118829578	3	2	269	1	0	0	0	0	1	0	0	0	7386	1029	36	4	847	4	HSD17B4	5	118829578	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	77771356	118829578	62085682	21	29531											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtaagtgcaagatgagTattattcctcaaaatttcaa	6	7	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	ENST00000509018.1	-	15	2009	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T652A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	602	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143, ECO:0000305}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1804-1806)Act>Gct		Rap guanine nucleotide exchange factor (GEF) 6							69	73	71					5																	130825275		2202	4291	6493	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130825275T>C	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1804A>G	5.37:g.130825275T>C	ENSP00000421684:p.Thr602Ala					RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|FNIP1_ENST00000514667.1_Missense_Mutation_p.T652A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A	p.T602A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	15	2009	-			602			PDZ.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1804A>G	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870345	0.91587	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.32753	2.28;2.28;2.28;2.28;2.28;2.28;1.44;2.28	5.73	5.73	0.89815	PDZ/DHR/GLGF (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.37466	1.105	0.80722	D	1	P;P;P;D;P;P;P	0.63046	0.846;0.927;0.712;0.992;0.846;0.953;0.774	P;P;B;D;P;P;P	0.66497	0.781;0.781;0.396;0.944;0.781;0.674;0.705	T	0.42137	-0.9469	10	0.72032	D	0.01	.	16.0152	0.80434	0.0:0.0:0.0:1.0	.	602;602;602;317;652;602;602	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	A	602;602;602;602;602;317;602;602;652	ENSP00000421684:T602A;ENSP00000309298:T602A;ENSP00000426081:T602A;ENSP00000296859:T602A;ENSP00000426910:T317A;ENSP00000311419:T602A;ENSP00000425389:T602A;ENSP00000426948:T652A	ENSP00000426948:T652A	T	-	1	0	RAPGEF6;FNIP1	130853174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.180000	0.69256	0.533000	0.62120	ACT		0.269	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	13	0	0	0	1	0	7	13					C	130825275	T	C	130825275	3	2	269	1	0	0	0	0	1	0	0	0	13048	1638	57	3	3543	3	RAPGEF6	5	130825275	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11995697	130825275	50089985	22	29532											
PCDHA11	56138	broad.mit.edu	37	chr5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgactcaggtgtcaacGgacaggtgacctgctcgctg	13	12	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	ENST00000398640.2	+	1	1144	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	382	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTCAACGGACAGGTGAC	0.602																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1144-1146)Gga>Aga									109	99	102					5																	140249832		2203	4300	6503	SO:0001583	missense	0							g.chr5:140249832G>A	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.1144G>A	5.37:g.140249832G>A	ENSP00000381636:p.Gly382Arg					PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.G382R	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1144	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1144G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623917	0.46840	.	.	ENSG00000249158	ENST00000398640	T	0.24538	1.85	5.85	5.85	0.93711	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58836	0.2150	M	0.85777	2.775	0.42234	D	0.991905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62431	-0.6856	9	0.62326	D	0.03	.	19.7493	0.96261	0.0:0.0:1.0:0.0	.	382;382	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	R	382	ENSP00000381636:G382R	ENSP00000381636:G382R	G	+	1	0	PCDHA11	140230016	1.000000	0.71417	0.979000	0.43373	0.254000	0.26022	4.502000	0.60400	2.767000	0.95098	0.563000	0.77884	GGA		0.602	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		16	113	0	0	0	1	0	16	113					A	140249832	G	A	140249832	3	1	269	1	0	0	0	0	1	0	0	0	11521	1117	39	1	1146	1	PCDHA11	5	140249832	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9424557	140249832	40665428	23	29533											
PCDHB6	56130	broad.mit.edu	37	chr5	140531706	140531706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcacaatggcgaggtgcGcaccgccaggctgctgagcg	17	13	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140531706G>T	ENST00000231136.1	+	1	1868	c.1868G>T	c.(1867-1869)cGc>cTc	p.R623L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	623	Cadherin 6. {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)			GGCGAGGTGCGCACCGCCAGG	0.687																																						ENST00000231136.1																			0				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						c.(1867-1869)cGc>cTc									27	29	28					5																	140531706		2056	4095	6151	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531706G>T	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.1868G>T	5.37:g.140531706G>T	ENSP00000231136:p.Arg623Leu					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	p.R623L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1868	+			623			Cadherin 6.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1868G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475617	0.63737	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.52754	0.65;0.65	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72439	0.3460	M	0.89287	3.02	0.48288	D	0.999621	D	0.61080	0.989	D	0.67103	0.949	T	0.79761	-0.1667	9	0.87932	D	0	.	16.2179	0.82239	0.0:0.0:1.0:0.0	.	623	Q9Y5E3	PCDB6_HUMAN	L	487;623	ENSP00000438466:R487L;ENSP00000231136:R623L	ENSP00000231136:R623L	R	+	2	0	PCDHB6	140511890	0.940000	0.31905	1.000000	0.80357	0.250000	0.25880	4.655000	0.61476	2.223000	0.72356	0.556000	0.70494	CGC		0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		4	86	1	0	0.150653	1	0.153965	4	86					T	140531706	G	T	140531706	3	4	269	1	0	0	0	0	1	0	0	0	11546	1087	38	4	1870	4	PCDHB6	5	140531706	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	281874	140531706	40383554	24	29534											
FAT2	2196	broad.mit.edu	37	chr5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctgatcaaactgcaagCttttgtcaagcacttgggtc	8	11	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	ENST00000261800.5	-	9	5906	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1965					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)			AAACTGCAAGCTTTTGTCAAG	0.483																																						ENST00000261800.5																			0				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						c.(5893-5895)aGc>aTc		FAT atypical cadherin 2							55	58	57					5																	150924794		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924794C>A	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.5894G>T	5.37:g.150924794C>A	ENSP00000261800:p.Ser1965Ile						p.S1965I	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5906	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1965					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5894G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164070	0.21538	.	.	ENSG00000086570	ENST00000261800	T	0.61627	0.09	5.08	1.76	0.24704	Cadherin (2);Cadherin-like (1);	0.700945	0.13462	N	0.386021	T	0.48187	0.1486	L	0.58810	1.83	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.33904	-0.9850	10	0.48119	T	0.1	.	9.5374	0.39231	0.0:0.5032:0.3891:0.1078	.	1965	Q9NYQ8	FAT2_HUMAN	I	1965	ENSP00000261800:S1965I	ENSP00000261800:S1965I	S	-	2	0	FAT2	150904987	0.003000	0.15002	0.575000	0.28536	0.948000	0.59901	0.591000	0.23969	0.365000	0.24400	0.491000	0.48974	AGC		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	40	1	0	0.307466	1	0.310808	7	40					A	150924794	C	A	150924794	3	1	269	1	0	0	0	0	1	0	0	0	5690	797	28	4	7215	4	FAT2	5	150924794	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	10393088	150924794	29990466	25	29535											
TIMD4	91937	broad.mit.edu	37	chr5	156378737	156378737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcatttgtcgggtggtGgtggggcttgttgttgttgt	18	3	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:156378737G>A	ENST00000274532.2	-	3	521	c.465C>T	c.(463-465)acC>acT	p.T155T	TIMD4_ENST00000407087.3_Silent_p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	155	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGGTGGTGGTGGGGCTTG	0.532																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(463-465)acC>acT		T-cell immunoglobulin and mucin domain containing 4							769	639	683					5																	156378737		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156378737G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.465C>T	5.37:g.156378737G>A						TIMD4_ENST00000407087.3_Silent_p.T155T	p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	521	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	155			Thr-rich.		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.465C>T	CCDS4332.1																																																																																				0.532	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		10	367	0	0	0	1	0	10	367					A	156378737	G	A	156378737	2	1	269	1	0	0	0	0	0	0	0	1	15900	1335	47	2		2	TIMD4	5	156378737	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	5453943	156378737	24536523	26	29536											
BAT3	7917	broad.mit.edu	37	chr6	31612931	31612931	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcattgggagttggggggggCcgagtcccatttcctgtcat	16	9	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:31612931C>G	ENST00000375964.6	-	10	1492	c.1179G>C	c.(1177-1179)cgG>cgC	p.R393R	BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000404765.2_Silent_p.R387R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Silent_p.R387R	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|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)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGGGGGGGGCCGAGTCCCAT	0.557																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1159-1161)cgG>cgC		BCL2-associated athanogene 6							77	93	87					6																	31612931		1509	2707	4216	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31612931C>G	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.1179G>C	6.37:g.31612931C>G						BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R	p.R387R			P46379	BAG6_HUMAN			10	1450	-			393			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1161G>C	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	4.577	0.107223	0.08780	.	.	ENSG00000204463	ENST00000453833	.	.	.	4.82	2.82	0.32997	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.24084	N	0.995931	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	.	4.0915	0.09972	0.1802:0.579:0.1505:0.0903	.	.	.	.	P	48	.	.	A	-	1	0	BAG6	31720910	0.270000	0.24152	0.998000	0.56505	0.520000	0.34377	-0.411000	0.07142	0.947000	0.37659	0.650000	0.86243	GCC		0.557	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		3	151	0	0	0	1	0	3	151					G	31612931	C	G	31612931	2	3	269	1	0	0	0	0	0	0	0	1	1322	726	26	4		4	BAT3	6	31612931	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08		31612931	139502136	27	29537											
ITPR3	3710	broad.mit.edu	37	chr6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggaggaaaccaagcaccGgctcttcaccactactgagc	10	14	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	ENST00000374316.5	+	49	7521	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2154					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)	ACCAAGCACCGGCTCTTCACC	0.597																																						ENST00000374316.5																			0				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						c.(6460-6462)cGg>cAg		inositol 1,4,5-trisphosphate receptor, type 3							110	93	99					6																	33656101		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656101G>A	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.6461G>A	6.37:g.33656101G>A	ENSP00000363435:p.Arg2154Gln					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q	p.R2154Q			Q14573	ITPR3_HUMAN			49	7521	+			2154					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6461G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981936	0.97168	.	.	ENSG00000096433	ENST00000374316	D	0.91945	-2.94	5.53	5.53	0.82687	.	0.066724	0.64402	D	0.000012	D	0.91801	0.7406	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.63046	0.992;0.85	P;B	0.53035	0.716;0.123	D	0.92048	0.5646	10	0.59425	D	0.04	-37.1723	19.4641	0.94931	0.0:0.0:1.0:0.0	.	2154;1824	Q14573;Q59ES2	ITPR3_HUMAN;.	Q	2154	ENSP00000363435:R2154Q	ENSP00000363435:R2154Q	R	+	2	0	ITPR3	33764079	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.854000	0.99522	2.594000	0.87642	0.650000	0.86243	CGG		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		46	105	0	0	0	1	0	46	105					A	33656101	G	A	33656101	3	1	269	1	0	0	0	0	1	0	0	0	7922	1116	39	1	6651	1	ITPR3	6	33656101	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2043170	33656101	137458966	28	29538											
SLC17A5	26503	broad.mit.edu	37	chr6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagaatgctctggacacgCcttggaagttctattatctt	9	9	3	1	rs199727701		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	ENST00000355773.5	-	2	512	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGACACGCCTTGGAAGTT	0.348																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(244-246)Gcg>Tcg		solute carrier family 17 (acidic sugar transporter), member 5							75	73	74					6																	74354177		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74354177C>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.244G>T	6.37:g.74354177C>A	ENSP00000348019:p.Ala82Ser					SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S	p.A82S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			2	512	-			82					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.244G>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403341	0.42613	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.81078	-0.22;-1.45	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.367176	0.27991	N	0.017039	T	0.33089	0.0851	N	0.01515	-0.825	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.09400	-1.0676	10	0.09590	T	0.72	.	12.0062	0.53261	0.0:0.9214:0.0:0.0785	.	82	Q9NRA2	S17A5_HUMAN	S	82	ENSP00000348019:A82S;ENSP00000376742:A82S	ENSP00000348019:A82S	A	-	1	0	SLC17A5	74410898	0.256000	0.24012	0.780000	0.31762	0.700000	0.40528	2.143000	0.42187	2.625000	0.88918	0.591000	0.81541	GCG		0.348	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			10	35	1	0	2.27111e-07	1	2.37318e-07	10	35					A	74354177	C	A	74354177	3	1	269	1	0	0	0	0	1	0	0	0	14420	739	26	4	1283	4	SLC17A5	6	74354177	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	40698076	74354177	96760890	29	29539											
ENPP3	5169	broad.mit.edu	37	chr6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacagatgtggctgacaGcaatgtatcaaggtttaaaa	9	6	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	ENST00000414305.1	+	10	1103	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T|ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	259	Phosphodiesterase.				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)		GTGGCTGACAGCAATGTATCA	0.388																																						ENST00000414305.1																			0				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						c.(775-777)Gca>Aca		ectonucleotide pyrophosphatase/phosphodiesterase 3							88	84	85					6																	131996232		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131996232G>A	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.775G>A	6.37:g.131996232G>A	ENSP00000406261:p.Ala259Thr					ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T|ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T	p.A259T			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	10	1103	+	Breast(56;0.0753)		259			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.775G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702392	0.88924	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000358229	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000004	D	0.86892	0.6042	M	0.83852	2.665	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	D	0.87253	0.2274	10	0.52906	T	0.07	-20.5185	18.2047	0.89851	0.0:0.0:1.0:0.0	.	259	O14638	ENPP3_HUMAN	T	259;259;225;259	ENSP00000406261:A259T;ENSP00000350265:A259T;ENSP00000440810:A225T;ENSP00000350964:A259T	ENSP00000350265:A259T	A	+	1	0	ENPP3	132037925	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.696000	0.84270	2.585000	0.87301	0.442000	0.29010	GCA		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			11	40	0	0	0	1	0	11	40					A	131996232	G	A	131996232	3	1	269	1	0	0	0	0	1	0	0	0	5131	971	34	2	809	2	ENPP3	6	131996232	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	57642055	131996232	39118835	30	29540											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-													tatcatggcttacggatcccTttttcacttgccccctgcca							TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)aagfs	p.K141fs	REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)agfs		RALBP1 associated Eps domain containing 1							196	180	186					6																	139266690		2203	4300	6503	SO:0001589	frameshift_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690delT		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422delA	6.37:g.139266690delT	ENSP00000392065:p.Lys141fs					REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs	p.K141fs			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Frame_Shift_Del	DEL	ENST00000450536.2	37	c.422delA																																																																																					0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			8	327						8	327	---	---	---	---	-	139266690	T	-	139266690	7	5	269	1	0	1	0	1	0	0	0	0	13228	1609	56	0	2040	0	REPS1	6	139266690	Frame_Shift_Del	DEL	T	TCGA-HT-7689-01A-11D-2253-08	7270458	139266690	31848377	31	29541											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	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.Q73Q(1)		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)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	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.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	17	0	0	0	1	0	3	17					A	170871043	G	A	170871043	2	1	269	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	31604353	170871043	244024	32	29542											
SFRP4	6424	broad.mit.edu	37	chr7	37955897	37955897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggtgcaaatgggcgcGtacatggcacagaggaagaa	15	8	0	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:37955897G>A	ENST00000436072.2	-	1	620	c.243C>T	c.(241-243)taC>taT	p.Y81Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	81	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAATGGGCGCGTACATGGCAC	0.622																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(241-243)taC>taT		secreted frizzled-related protein 4							121	97	105					7																	37955897		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955897G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.243C>T	7.37:g.37955897G>A						EPDR1_ENST00000476620.1_Intron	p.Y81Y	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	620	-			81			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.243C>T	CCDS5453.1																																																																																				0.622	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		3	53	0	0	0	1	0	3	53					A	37955897	G	A	37955897	2	1	269	1	0	0	0	0	0	0	0	1	14163	1140	40	1		1	SFRP4	7	37955897	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		37955897	121182766	33	29543											
ABCA13	154664	broad.mit.edu	37	chr7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaatcagtttcaaaatatTtggcttcatttaataacact	3	8	3	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	ENST00000435803.1	+	17	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1543					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						TTCAAAATATTTGGCTTCATT	0.299																																						ENST00000435803.1																			0				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						c.(4627-4629)atT>atG		ATP-binding cassette, sub-family A (ABC1), member 13							44	45	44					7																	48313892		1803	4051	5854	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313892T>G	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.4629T>G	7.37:g.48313892T>G	ENSP00000411096:p.Ile1543Met						p.I1543M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4653	+			1543					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4629T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950430	0.34377	.	.	ENSG00000179869	ENST00000435803	D	0.86694	-2.16	5.28	-4.13	0.03904	.	1.014930	0.07910	N	0.974119	T	0.81118	0.4756	L	0.56769	1.78	0.23636	N	0.997233	P	0.35982	0.531	B	0.39185	0.293	T	0.69716	-0.5070	9	.	.	.	.	2.416	0.04436	0.1248:0.3567:0.128:0.3905	.	1543	Q86UQ4	ABCAD_HUMAN	M	1543	ENSP00000411096:I1543M	.	I	+	3	3	ABCA13	48284438	0.002000	0.14202	0.652000	0.29579	0.491000	0.33493	-0.301000	0.08232	-0.265000	0.09352	0.460000	0.39030	ATT		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	56	0	0	0	1	0	6	56					G	48313892	T	G	48313892	3	3	269	1	0	0	0	0	1	0	0	0	31	1829	64	5	4524	5	ABCA13	7	48313892	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	10357995	48313892	110824771	34	29544											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	AAAT	-													ttttactctaagaaacacaaAaataaaaaaggtgagtcaac							TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	ENST00000393386.2	+	20	6038_6041	c.5627_5630delAAAT	c.(5626-5631)aaaatafs	p.KI1876fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1876	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						AGAAACACAAAAATAAAAAAGGTG	0.382																																						ENST00000393386.2																			0				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						c.(5626-5631)aafs		protein tyrosine phosphatase, receptor-type, Z polypeptide 1																																				SO:0001589	frameshift_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121679632_121679635delAAAT	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.5627_5630delAAAT	7.37:g.121679632_121679635delAAAT	ENSP00000377047:p.Lys1876fs					PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	p.KI1876fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			20	6038_6041	+			1876			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Frame_Shift_Del	DEL	ENST00000393386.2	37	c.5627_5630delAAAT	CCDS34740.1																																																																																				0.382	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	45						8	45	---	---	---	---	-	121679635	AAAT	-	121679632	7	5	269	1	0	1	0	1	0	0	0	0	12814	14	1	0	5705	0	PTPRZ1	7	121679632	Frame_Shift_Del	DEL	AAAT	TCGA-HT-7689-01A-11D-2253-08	73365740	121679632	37459031	35	29545											
ANK1	286	broad.mit.edu	37	chr8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgatcacgaagtacagcGggaagtcggtggtgatgatt	14	6	1	3	rs267601925		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	ENST00000347528.4	-	28	3262	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000396942.1_Missense_Mutation_p.P1060L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1060	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3178-3180)cCg>cTg		ankyrin 1, erythrocytic							181	146	158					8																	41552258		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41552258G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3179C>T	8.37:g.41552258G>A	ENSP00000339620:p.Pro1060Leu					ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1060L	p.P1060L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		28	3262	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1060					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3179C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647346	0.87958	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.71579	-0.55;-0.54;-0.52;-0.51;-0.52;-0.5;-0.58	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.79258	2.445	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	0.86873	0.2037	10	0.87932	D	0	.	18.7799	0.91928	0.0:0.0:1.0:0.0	.	1101;1060;1060;1060;1060;376	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	L	1060;1060;1060;1060;1060;1060;1101;1060	ENSP00000339620:P1060L;ENSP00000289734:P1060L;ENSP00000369082:P1060L;ENSP00000380149:P1060L;ENSP00000380147:P1060L;ENSP00000309131:P1060L;ENSP00000265709:P1101L	ENSP00000265709:P1101L	P	-	2	0	ANK1	41671415	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	9.813000	0.99286	2.495000	0.84180	0.462000	0.41574	CCG		0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		12	66	0	0	0	1	0	12	66					A	41552258	G	A	41552258	3	1	269	1	0	0	0	0	1	0	0	0	620	1116	39	1	2852	1	ANK1	8	41552258	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		41552258	104811764	36	29546											
ZNF484	83744	broad.mit.edu	37	chr9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttaatgaagacaacaCgacttaaaggtttgttctgg	9	6	2	2	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	ENST00000375495.3	-	5	561	c.413G>A	c.(412-414)cGt>cAt	p.R138H	ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R102H|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	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)|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						GAAGACAACACGACTTAAAGG	0.368																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(304-306)cGt>cAt		zinc finger protein 484		C	HIS/ARG,HIS/ARG	1,4405		0,1,2202	216	210	212		305,413	-3.9	0	9	dbSNP_134	212	1,8599		0,1,4299	no	missense,missense	ZNF484	NM_001007101.1,NM_031486.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	102/817,138/853	95610656	2,13004	2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610656C>T	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.413G>A	9.37:g.95610656C>T	ENSP00000364645:p.Arg138His					ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138H|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H	p.R102H	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	397	-			138					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.305G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.216339	0.00286	2.27E-4	1.16E-4	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06294	3.32;3.42;3.44;3.32	2.94	-3.86	0.04230	.	.	.	.	.	T	0.02083	0.0065	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.44620	-0.9316	9	0.37606	T	0.19	.	5.4162	0.16376	0.0:0.477:0.1881:0.3349	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	H	102;140;138;102	ENSP00000378881:R102H;ENSP00000378882:R140H;ENSP00000364645:R138H;ENSP00000364646:R102H	ENSP00000364646:R102H	R	-	2	0	ZNF484	94650477	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.335000	0.07873	-0.941000	0.03700	-1.047000	0.02352	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		41	60	0	0	0	1	0	41	60					T	95610656	C	T	95610656	3	4	269	1	0	0	0	0	1	0	0	0	17934	536	19	1	2149	1	ZNF484	9	95610656	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		95610656	45602775	37	29547											
LAMC3	10319	broad.mit.edu	37	chr9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatccgcccggccagggCtttccccgccagcctcctgg	10	20	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	ENST00000361069.4	+	12	2120	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	663	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1987-1989)Ctt>Ttt		laminin, gamma 3							68	74	72					9																	133932363		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133932363C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1987C>T	9.37:g.133932363C>T	ENSP00000354360:p.Leu663Phe					LAMC3_ENST00000480883.1_Intron	p.L663F	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	12	2120	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	663			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1987C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329939	0.41297	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.35973	1.28	4.95	4.05	0.47172	Laminin B type IV (2);	0.736619	0.12956	N	0.425434	T	0.38453	0.1041	M	0.63428	1.95	0.09310	N	1	B	0.17465	0.022	B	0.23852	0.049	T	0.34104	-0.9842	10	0.56958	D	0.05	.	11.0247	0.47739	0.1444:0.7164:0.1392:0.0	.	663	Q9Y6N6	LAMC3_HUMAN	F	663	ENSP00000354360:L663F	ENSP00000347156:L663F	L	+	1	0	LAMC3	132922184	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	0.932000	0.28884	1.086000	0.41228	0.650000	0.86243	CTT		0.607	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		18	126	0	0	0	1	0	18	126					T	133932363	C	T	133932363	3	4	269	1	0	0	0	0	1	0	0	0	8616	797	28	2	2033	2	LAMC3	9	133932363	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	38321707	133932363	7281068	38	29548											
TUBB2C	10383	broad.mit.edu	37	chr9	140137441	140137441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggaagctggctgtgaacatGgtcccgtttccccggctgca	13	13	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:140137441G>C	ENST00000340384.4	+	4	919	c.771G>C	c.(769-771)atG>atC	p.M257I		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	257					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	CTGTGAACATGGTCCCGTTTC	0.652																																						ENST00000340384.4																			0											c.(769-771)atG>atC		tubulin, beta 4B class IVb							32	33	32					9																	140137441		2202	4298	6500	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137441G>C	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.771G>C	9.37:g.140137441G>C	ENSP00000341289:p.Met257Ile						p.M257I	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	919	+			257					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.771G>C	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630774	0.28978	.	.	ENSG00000188229	ENST00000340384	D	0.83837	-1.77	5.57	5.57	0.84162	.	0.051329	0.64402	D	0.000001	D	0.89656	0.6778	H	0.95950	3.745	0.80722	D	1	B	0.13145	0.007	B	0.22880	0.042	D	0.88420	0.3028	10	0.87932	D	0	.	18.1378	0.89627	0.0:0.0:1.0:0.0	.	257	P68371	TBB4B_HUMAN	I	257	ENSP00000341289:M257I	ENSP00000341289:M257I	M	+	3	0	TUBB2C	139257262	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.809000	0.86057	2.625000	0.88918	0.655000	0.94253	ATG		0.652	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		5	36	0	0	0	1	0	5	36					C	140137441	G	C	140137441	3	2	269	1	0	0	0	0	1	0	0	0	16753	1348	47	4	785	4	TUBB2C	9	140137441	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	6205078	140137441	1075990	39	29549											
NEURL	9148	broad.mit.edu	37	chr10	105349295	105349295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatcctggccgagcgggGtatcccatcactcccctgct	9	17	1	0	rs551936679	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:105349295G>A	ENST00000369780.4	+	5	1773	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	NEURL_ENST00000369777.2_Missense_Mutation_p.G438D|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		455					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)		GCCGAGCGGGGTATCCCATCA	0.652																																						ENST00000369780.4																			0				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						c.(1363-1365)gGt>gAt									56	58	58					10																	105349295		2203	4300	6503	SO:0001583	missense	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105349295G>A																												ENST00000369780.4:c.1364G>A	10.37:g.105349295G>A	ENSP00000358795:p.Gly455Asp					NEURL_ENST00000369777.2_Missense_Mutation_p.G438D|SH3PXD2A_ENST00000427662.2_Intron	p.G455D	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	5	1773	+			455					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.1364G>A	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746897	0.30955	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	4.94	2.98	0.34508	.	0.443061	0.25146	N	0.032791	T	0.38054	0.1026	L	0.36672	1.1	0.80722	D	1	P	0.42827	0.791	B	0.37650	0.255	T	0.06752	-1.0809	9	0.32370	T	0.25	-29.2316	9.2489	0.37543	0.0:0.2431:0.5639:0.193	.	455	O76050	NEU1A_HUMAN	D	455;438	.	ENSP00000358792:G438D	G	+	2	0	NEURL	105339285	1.000000	0.71417	0.995000	0.50966	0.746000	0.42486	2.908000	0.48750	0.442000	0.26555	0.561000	0.74099	GGT		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			11	112	0	0	0	1	0	11	112					A	105349295	G	A	105349295	3	1	269	1	0	0	0	0	1	0	0	0	10345	1261	44	2	1382	2	NEURL	10	105349295	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		105349295	30185452	40	29550											
NRAP	4892	broad.mit.edu	37	chr10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcctttcatccacttcaCatctgccctgtattggttct	5	14	4	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	ENST00000359988.3	-	25	3032	c.2788G>A	c.(2788-2790)Gtg>Atg	p.V930M	NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000369358.4_Missense_Mutation_p.V938M|NRAP_ENST00000360478.3_Missense_Mutation_p.V895M	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											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)		ATCCACTTCACATCTGCCCTG	0.478																																						ENST00000369358.4																			0				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						c.(2812-2814)Gtg>Atg		nebulin-related anchoring protein							136	126	129					10																	115380449		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115380449C>T		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.2788G>A	10.37:g.115380449C>T	ENSP00000353078:p.Val930Met					NRAP_ENST00000360478.3_Missense_Mutation_p.V895M|NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000359988.3_Missense_Mutation_p.V930M	p.V938M			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	25	3056	-		Colorectal(252;0.0233)|Breast(234;0.188)	930						Missense_Mutation	SNP	ENST00000359988.3	37	c.2812G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943704	0.34283	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	6.17	3.77	0.43336	.	0.190896	0.47455	N	0.000239	T	0.10465	0.0256	N	0.02539	-0.55	0.28533	N	0.912489	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.19391	0.011;0.025;0.011	T	0.07481	-1.0770	10	0.35671	T	0.21	.	2.1481	0.03792	0.281:0.4704:0.1169:0.1316	.	930;895;930	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	M	938;903;930;895	ENSP00000358365:V938M;ENSP00000358367:V903M;ENSP00000353078:V930M;ENSP00000353666:V895M	ENSP00000353078:V930M	V	-	1	0	NRAP	115370439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.241000	0.43097	1.277000	0.44412	0.655000	0.94253	GTG		0.478	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		28	165	0	0	0	1	0	28	165					T	115380449	C	T	115380449	3	4	269	1	0	0	0	0	1	0	0	0	10638	478	17	2	2476	2	NRAP	10	115380449	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	10031154	115380449	20154298	41	29551											
DMBT1	1755	broad.mit.edu	37	chr10	124389482	124389482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgaattctggttatcGcataaacctgggcttcagta	10	7	2	2	rs376854088		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:124389482G>A	ENST00000338354.3	+	44	5514	c.5408G>A	c.(5407-5409)cGc>cAc	p.R1803H	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1803H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1803	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)				TCTGGTTATCGCATAAACCTG	0.473																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(5407-5409)cGc>cAc		deleted in malignant brain tumors 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3955		0,1,1977	161	158	159		3524,5408,5378	0	0	10		159	0,8310		0,0,4155	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	29,29,29	0,1,6132	AA,AG,GG		0.0,0.0253,0.0082	probably-damaging,probably-damaging,probably-damaging	1175/1786,1803/2414,1793/2404	124389482	1,12265	1978	4155	6133	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124389482G>A		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.5408G>A	10.37:g.124389482G>A	ENSP00000342210:p.Arg1803His					DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1803H	p.R1803H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			44	5514	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1803			CUB 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.5408G>A		.	.	.	.	.	.	.	.	.	.	G	14.33	2.504651	0.44558	2.53E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	4.43	-0.0285	0.13922	CUB (5);	.	.	.	.	T	0.24812	0.0602	L	0.48877	1.53	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.994;0.999;0.98;0.999;0.999;1.0;0.998	P;D;P;D;D;D;D	0.75020	0.738;0.985;0.656;0.965;0.957;0.969;0.952	T	0.23119	-1.0197	9	0.11794	T	0.64	.	5.9769	0.19385	0.0939:0.0:0.4365:0.4696	.	523;1783;1052;1932;1175;1793;1803	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1803;1932;1803;1803;1803;1803;1175;1793;1175;1175;1803;1793;1175;523	ENSP00000342210:R1803H;ENSP00000343175:R1793H;ENSP00000327747:R1175H;ENSP00000357905:R1803H;ENSP00000357951:R1793H;ENSP00000357952:R1175H;ENSP00000352593:R523H	ENSP00000331522:R1175H	R	+	2	0	DMBT1	124379472	0.000000	0.05858	0.003000	0.11579	0.386000	0.30323	0.139000	0.16036	-0.067000	0.12976	0.655000	0.94253	CGC		0.473	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	142	0	0	0	1	0	5	142					A	124389482	G	A	124389482	3	1	269	1	0	0	0	0	1	0	0	0	4577	1087	38	1	5582	1	DMBT1	10	124389482	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9009033	124389482	11145265	42	29552											
OR4A16	81327	broad.mit.edu	37	chr11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A													tcactcaagatcctgatgtgINSaaaaaaacattatttgtcat					rs77509752|rs368036675|rs78513473	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(64-66)aaafs	p.K22fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416																																						ENST00000314721.2																			1	Substitution - coding silent(1)	p.V21V(1)	lung(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(61-66)gtaaaafs		olfactory receptor, family 4, subfamily A, member 16																																				SO:0001589	frameshift_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110739_55110740insA	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.70dupA	11.37:g.55110746_55110746dupA	ENSP00000325128:p.Lys22fs						p.VK21fs	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	113_114	+			21					Q6IFL3	Frame_Shift_Ins	INS	ENST00000314721.2	37	c.63_64insA	CCDS31499.1																																																																																				0.416	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		18	62						18	62	---	---	---	---	A	55110740	-	A	55110739	7	5	269	1	0	1	1	0	0	0	0	0	11041	1277	45	0	65	0	OR4A16	11	55110739	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08		55110739	79895777	43	29553											
MPEG1	219972	broad.mit.edu	37	chr11	58979065	58979065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtaaccctcctcgtggAtctgggataacaggtgcacc	12	11	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:58979065A>G	ENST00000361050.3	-	1	1359	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	425						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTCCTCGTGGATCTGGGATAA	0.537																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1273-1275)aTc>aCc		macrophage expressed 1							75	72	73					11																	58979065		1933	4148	6081	SO:0001583	missense	219972					integral to membrane		g.chr11:58979065A>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"macrophage expressed gene 1"	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1274T>C	11.37:g.58979065A>G	ENSP00000354335:p.Ile425Thr						p.I425T	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1359	-		all_epithelial(135;0.125)	425					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1274T>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	0.063	-1.218851	0.01542	.	.	ENSG00000197629	ENST00000361050	T	0.40225	1.04	5.73	-3.95	0.04118	.	0.730141	0.13369	N	0.393022	T	0.11623	0.0283	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37549	-0.9701	10	0.08381	T	0.77	-7.5056	10.8278	0.46643	0.2331:0.0:0.6378:0.1292	.	425	Q2M385	MPEG1_HUMAN	T	425	ENSP00000354335:I425T	ENSP00000354335:I425T	I	-	2	0	MPEG1	58735641	0.293000	0.24371	0.069000	0.20011	0.001000	0.01503	-0.043000	0.12043	-0.765000	0.04645	-1.009000	0.02473	ATC		0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		3	97	0	0	0	1	0	3	97					G	58979065	A	G	58979065	3	3	269	1	0	0	0	0	1	0	0	0	9723	333	12	3	880	3	MPEG1	11	58979065	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	3868326	58979065	76027451	44	29554											
PLAC1L	219990	broad.mit.edu	37	chr11	59810975	59810975	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggactggttgatggTctcagttatcccagttgcag	11	10	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:59810975T>A	ENST00000278855.2	+	2	283	c.98T>A	c.(97-99)gTc>gAc	p.V33D	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V2D	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		33				V -> A (in Ref. 1; BAC04191). {ECO:0000305}.		extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGGTTGATGGTCTCAGTTATC	0.393																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(97-99)gTc>gAc									126	124	124					11																	59810975		2201	4295	6496	SO:0001583	missense	0					extracellular region		g.chr11:59810975T>A																												ENST00000278855.2:c.98T>A	11.37:g.59810975T>A	ENSP00000278855:p.Val33Asp					PLAC1L_ENST00000532905.1_Missense_Mutation_p.V2D	p.V33D	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			2	283	+			33	V -> A (in Ref. 1; BAC04191).				E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.98T>A	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414344	0.42817	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	.	.	.	3.18	3.18	0.36537	.	0.236875	0.21880	N	0.067747	T	0.52549	0.1741	L	0.60455	1.87	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.37244	-0.9714	9	0.87932	D	0	-2.7039	8.1135	0.30928	0.0:0.0:0.0:1.0	.	33	Q86WS3	PLACL_HUMAN	D	33;2	.	ENSP00000278855:V33D	V	+	2	0	PLAC1L	59567551	0.957000	0.32711	0.014000	0.15608	0.050000	0.14768	2.521000	0.45563	1.686000	0.51046	0.455000	0.32223	GTC		0.393	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			9	41	0	0	0	1	0	9	41					A	59810975	T	A	59810975	3	1	269	1	0	0	0	0	1	0	0	0	12013	1667	58	5	104	5	PLAC1L	11	59810975	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	831910	59810975	75195541	45	29555											
AHNAK	79026	broad.mit.edu	37	chr11	62290017	62290017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagacgtcaaggtcagcctTgggcaggttcacatccactt	11	11	3	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:62290017T>C	ENST00000378024.4	-	5	12146	c.11872A>G	c.(11872-11874)Aag>Gag	p.K3958E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3958					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)				AGGTCAGCCTTGGGCAGGTTC	0.498																																						ENST00000378024.4																			0				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						c.(11872-11874)Aag>Gag		AHNAK nucleoprotein							234	243	240					11																	62290017		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290017T>C	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.11872A>G	11.37:g.62290017T>C	ENSP00000367263:p.Lys3958Glu					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3958E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12146	-		Melanoma(852;0.155)	3958					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11872A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.84	1.759729	0.31137	.	.	ENSG00000124942	ENST00000378024	T	0.02552	4.25	4.9	4.9	0.64082	.	0.000000	0.35466	U	0.003182	T	0.13329	0.0323	M	0.86028	2.79	0.38468	D	0.947393	D	0.58268	0.982	P	0.58013	0.831	T	0.06516	-1.0822	10	0.36615	T	0.2	-9.5935	14.185	0.65601	0.0:0.0:0.0:1.0	.	3958	Q09666	AHNK_HUMAN	E	3958	ENSP00000367263:K3958E	ENSP00000367263:K3958E	K	-	1	0	AHNAK	62046593	0.151000	0.22747	1.000000	0.80357	0.437000	0.31866	0.815000	0.27253	1.827000	0.53221	0.408000	0.27601	AAG		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	412	0	0	0	1	0	6	412					C	62290017	T	C	62290017	3	2	269	1	0	0	0	0	1	0	0	0	414	1821	63	3	5920	3	AHNAK	11	62290017	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	2479042	62290017	72716499	46	29556											
SHANK2	22941	broad.mit.edu	37	chr11	70333471	70333471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctcttgttgcggaagTtggcttgcgggccggcattc	15	11	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:70333471T>C	ENST00000423696.2	-	15	1826	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000338508.4_Missense_Mutation_p.N977S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	597					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCGGAAGTTGGCTTGCGG	0.592																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2929-2931)aAc>aGc		SH3 and multiple ankyrin repeat domains 2							110	113	112					11																	70333471		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333471T>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1790A>G	11.37:g.70333471T>C	ENSP00000394536:p.Asn597Ser					SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N597S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S	p.N977S			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	2929	-			597					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2930A>G		.	.	.	.	.	.	.	.	.	.	T	0.048	-1.259134	0.01445	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.37915	2.47;2.47;3.19;1.17;2.59;2.59	4.85	-9.7	0.00521	.	0.371554	0.28989	N	0.013498	T	0.14657	0.0354	L	0.29908	0.895	0.41441	D	0.987929	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.11329	0.001;0.006;0.004	T	0.49082	-0.8976	10	0.02654	T	1	.	9.6236	0.39737	0.0:0.2473:0.504:0.2486	.	597;976;381	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	381;380;255;977;597;615;600	ENSP00000399423:N381S;ENSP00000386491:N380S;ENSP00000402944:N255S;ENSP00000345193:N977S;ENSP00000394536:N597S;ENSP00000294018:N600S	ENSP00000294018:N600S	N	-	2	0	SHANK2	70011119	0.643000	0.27269	0.146000	0.22360	0.069000	0.16628	-0.182000	0.09726	-2.407000	0.00574	-1.046000	0.02355	AAC		0.592	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	170	0	0	0	1	0	5	170					C	70333471	T	C	70333471	3	2	269	1	0	0	0	0	1	0	0	0	14265	1725	60	3	2630	3	SHANK2	11	70333471	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	8043454	70333471	64673045	47	29557											
NUMA1	4926	broad.mit.edu	37	chr11	71726290	71726290	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttccagctcctttcgTtcccgcttatgctgctccac	5	17	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:71726290T>C	ENST00000393695.3	-	15	2590	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E|RP11-849H4.4_ENST00000502284.1_RNA	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						GCTCCTTTCGTTCCCGCTTAT	0.612			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				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						c.(2257-2259)gaA>gaG		nuclear mitotic apparatus protein 1							65	65	65					11																	71726290		2200	4293	6493	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726290T>C	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.2259A>G	11.37:g.71726290T>C						NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E|RP11-849H4.4_ENST00000502284.1_RNA	p.E753E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	2590	-			753						Silent	SNP	ENST00000393695.3	37	c.2259A>G	CCDS31633.1																																																																																				0.612	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			3	94	0	0	0	1	0	3	94					C	71726290	T	C	71726290	2	2	269	1	0	0	0	0	0	0	0	1	10750	1722	60	3		3	NUMA1	11	71726290	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	1392819	71726290	63280226	48	29558											
EXPH5	23086	broad.mit.edu	37	chr11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactctttgaacgatagagGtgtggctcaggttcccactc	10	10	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	ENST00000265843.4	-	6	5480	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q|EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1790					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)		AACGATAGAGGTGTGGCTCAG	0.463																																						ENST00000265843.4																			0				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						c.(5368-5370)caC>caA		exophilin 5							91	99	96					11																	108380864		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380864G>T		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.5370C>A	11.37:g.108380864G>T	ENSP00000265843:p.His1790Gln					EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q	p.H1790Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	6	5480	-		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)	1790					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5370C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351968	0.41700	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.02944	4.33;4.25;4.1;4.33;4.17	6.17	-6.62	0.01813	.	0.929457	0.09177	N	0.837997	T	0.06371	0.0164	M	0.67953	2.075	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.11792	-1.0573	10	0.23302	T	0.38	2.7778	0.763	0.01010	0.3028:0.2823:0.2261:0.1888	.	1790	Q8NEV8	EXPH5_HUMAN	Q	1790;1714;1602;1783;620;1714	ENSP00000265843:H1790Q;ENSP00000391966:H1714Q;ENSP00000411390:H1602Q;ENSP00000432546:H1783Q;ENSP00000432683:H1714Q	ENSP00000265843:H1790Q	H	-	3	2	EXPH5	107886074	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-1.461000	0.02366	-1.023000	0.03342	0.655000	0.94253	CAC		0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		13	123	1	0	2.48551e-13	1	2.62673e-13	13	123					T	108380864	G	T	108380864	3	4	269	1	0	0	0	0	1	0	0	0	5322	1252	44	4	603	4	EXPH5	11	108380864	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	36654574	108380864	26625652	49	29559											
ARHGEF12	23365	broad.mit.edu	37	chr11	120355176	120355176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagttacaccattctttgCcaaaggctggctggatcagc	10	10	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	ENST00000397843.2	+	40	4750	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					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)		CCATTCTTTGCCAAAGGCTGG	0.378			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4582-4584)tgC>tgT		Rho guanine nucleotide exchange factor (GEF) 12							90	82	84					11																	120355176		1863	4103	5966	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120355176C>T	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.4584C>T	11.37:g.120355176C>T						ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	p.C1528C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	40	4750	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1528					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.4584C>T	CCDS41727.1																																																																																				0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	92	0	0	0	1	0	5	92					T	120355176	C	T	120355176	2	4	269	1	0	0	0	0	0	0	0	1	897	747	26	2		2	ARHGEF12	11	120355176	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	11974312	120355176	14651340	50	29560											
PYROXD1	79912	broad.mit.edu	37	chr12	21615672	21615672	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgaggaatgttgtttAgtttgatctaggagaagatg	13	2	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	ENST00000240651.9	+	10	1047		c.e10-1		PYROXD1_ENST00000538582.1_Splice_Site	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.e10-1		pyridine nucleotide-disulphide oxidoreductase domain 1							143	131	135					12																	21615672		2203	4300	6503	SO:0001630	splice_region_variant	79912						oxidoreductase activity	g.chr12:21615672A>G	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.994-1A>G	12.37:g.21615672A>G						PYROXD1_ENST00000240651.9_Splice_Site				Q8WU10	PYRD1_HUMAN			10	1533	+								A6NKI6|B3KWN8|Q9H6P1	Splice_Site	SNP	ENST00000240651.9	37		CCDS31755.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318582	0.40996	.	.	ENSG00000121350	ENST00000536935;ENST00000240651;ENST00000538582	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.149	0.54040	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PYROXD1	21506939	1.000000	0.71417	0.998000	0.56505	0.470000	0.32858	8.273000	0.89887	1.867000	0.54127	0.533000	0.62120	.		0.373	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854	Intron	20	70	0	0	0	1	0	20	70					G	21615672	A	G	21615672	5	3	269	1	0	0	0	0	0	0	1	0	12866	434	15	3	1030	3	PYROXD1	12	21615672	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08		21615672	112236223	51	29561											
KIF21A	55605	broad.mit.edu	37	chr12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtataaattcctccaGttgaatcttcatgaattctt	4	10	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	ENST00000361418.5	-	4	560	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_ENST00000395670.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	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)				AATTCCTCCAGTTGAATCTTC	0.313																																						ENST00000395670.3																			0				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						c.(544-546)aCt>aGt		kinesin family member 21A							98	111	107					12																	39761740		2202	4293	6495	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39761740G>C	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.545C>G	12.37:g.39761740G>C	ENSP00000354878:p.Thr182Ser					KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361418.5_Missense_Mutation_p.T182S|KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S	p.T182S			Q7Z4S6	KI21A_HUMAN			4	964	-		Lung NSC(34;0.179)|all_lung(34;0.213)	182			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.545C>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045447	0.07452	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.236117	0.29616	N	0.011645	T	0.55609	0.1931	N	0.05158	-0.105	0.24364	N	0.994864	B;B;B;B;B	0.28128	0.002;0.201;0.001;0.002;0.005	B;B;B;B;B	0.31442	0.012;0.13;0.012;0.005;0.001	T	0.31530	-0.9940	10	0.02654	T	1	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	182;182;182;182;182	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	S	182	ENSP00000354851:T182S;ENSP00000379029:T182S;ENSP00000445606:T182S;ENSP00000354878:T182S;ENSP00000438075:T182S	ENSP00000344501:T182S	T	-	2	0	KIF21A	38048007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.657000	0.54474	2.732000	0.93576	0.650000	0.86243	ACT		0.313	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		17	171	0	0	0	1	0	17	171					C	39761740	G	C	39761740	3	2	269	1	0	0	0	0	1	0	0	0	8288	1029	36	4	4619	4	KIF21A	12	39761740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	18146068	39761740	94090155	52	29562											
CSRP2	1466	broad.mit.edu	37	chr12	77253345	77253347	+	In_Frame_Del	DEL	CTT	CTT	-													acctttacaatagatttcacCttctttttcagtcagagttg							TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	ENST00000311083.5	-	5	608_610	c.485_487delAAG	c.(484-489)gaaggt>ggt	p.E162del	CSRP2_ENST00000546966.1_In_Frame_Del_p.E162del|CSRP2_ENST00000547435.1_In_Frame_Del_p.E162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.E212del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	162	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TAGATTTCACCTTCTTTTTCAGT	0.374																																						ENST00000311083.5																			0				kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						c.(484-489)ggt>g		cysteine and glycine-rich protein 2																																				SO:0001651	inframe_deletion	1466				multicellular organismal development	nucleus	zinc ion binding	g.chr12:77253345_77253347delCTT	BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.485_487delAAG	12.37:g.77253348_77253350delCTT	ENSP00000310901:p.Glu162del					CSRP2_ENST00000547435.1_In_Frame_Del_p.EG162del|CSRP2_ENST00000546966.1_In_Frame_Del_p.EG162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.EG212del	p.EG162del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN			5	608_610	-			162			LIM zinc-binding 2.		Q93030	In_Frame_Del	DEL	ENST00000311083.5	37	c.485_487delAAG	CCDS9015.1																																																																																				0.374	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406572.1	NM_001321		9	25						9	25	---	---	---	---	-	77253347	CTT	-	77253345	7	5	269	1	0	1	0	1	0	0	0	0	3967	681	24	0	102	0	CSRP2	12	77253345	In_Frame_Del	DEL	CTT	TCGA-HT-7689-01A-11D-2253-08	37491605	77253345	56598550	53	29563											
RILPL1	353116	broad.mit.edu	37	chr12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggtctgcaggtctgcctCcagctccaccttctgttcga	9	15	3	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	ENST00000376874.4	-	4	923	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230					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)				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)		AGGTCTGCCTCCAGCTCCACC	0.627																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(688-690)Gag>Aag		Rab interacting lysosomal protein-like 1							90	94	93					12																	123983204		2071	4214	6285	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:123983204C>T	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.688G>A	12.37:g.123983204C>T	ENSP00000366070:p.Glu230Lys					RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	p.E230K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	4	923	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		230					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.688G>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788990	0.96945	.	.	ENSG00000188026	ENST00000376874;ENST00000340724	T;T	0.23147	1.92;1.92	5.23	5.23	0.72850	.	0.112995	0.64402	D	0.000018	T	0.40956	0.1138	M	0.80422	2.495	0.80722	D	1	P;P;P	0.45531	0.86;0.717;0.86	P;B;P	0.44561	0.453;0.211;0.453	T	0.46843	-0.9162	10	0.56958	D	0.05	-8.5385	19.184	0.93635	0.0:1.0:0.0:0.0	.	206;230;79	Q5EBL4-2;Q5EBL4;Q5EBL4-3	.;RIPL1_HUMAN;.	K	230;78	ENSP00000366070:E230K;ENSP00000345874:E78K	ENSP00000345874:E78K	E	-	1	0	RILPL1	122549157	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.041000	0.70988	2.614000	0.88457	0.561000	0.74099	GAG		0.627	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		34	141	0	0	0	1	0	34	141					T	123983204	C	T	123983204	3	4	269	1	0	0	0	0	1	0	0	0	13361	864	30	2	539	2	RILPL1	12	123983204	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	46729859	123983204	9868691	54	29564											
FUT8	2530	broad.mit.edu	37	chr14	66028460	66028460	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacagaatgaagactTgaggcgaatggccgaatctc	10	8	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:66028460T>A	ENST00000360689.5	+	3	1906	c.179T>A	c.(178-180)tTg>tAg	p.L60*	FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	60					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)			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)		AATGAAGACTTGAGGCGAATG	0.428																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(178-180)tTg>tAg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							64	63	63					14																	66028460		2203	4299	6502	SO:0001587	stop_gained	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028460T>A	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.179T>A	14.37:g.66028460T>A	ENSP00000353910:p.Leu60*					FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*|FUT8_ENST00000358307.2_Intron	p.L60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1906	+			60					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	ENST00000360689.5	37	c.179T>A	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	T	41	8.965259	0.99019	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000394585	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6041	14.1824	0.65583	0.0:0.0:0.0:1.0	.	.	.	.	X	60	.	ENSP00000345865:L60X	L	+	2	0	FUT8	65098213	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.698000	0.84413	2.233000	0.73108	0.533000	0.62120	TTG		0.428	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		3	48	0	0	0	1	0	3	48					A	66028460	T	A	66028460	4	1	269	1	0	0	0	0	0	1	0	0	6110	1821	63	5	181	5	FUT8	14	66028460	Nonsense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08		66028460	41321080	55	29565											
KCNK13	56659	broad.mit.edu	37	chr14	90650849	90650849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattggctttggggacctGgtcagcagccagaacgccca	12	13	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	ENST00000282146.4	+	2	1170	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(727-729)ctG>ctA		potassium channel, subfamily K, member 13							119	107	111					14																	90650849		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650849G>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.729G>A	14.37:g.90650849G>A							p.L243L	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1170	+		all_cancers(154;0.186)	243					B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.729G>A	CCDS9889.1																																																																																				0.532	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		19	33	0	0	0	1	0	19	33					A	90650849	G	A	90650849	2	1	269	1	0	0	0	0	0	0	0	1	8061	1335	47	2		2	KCNK13	14	90650849	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	24622389	90650849	16698691	56	29566											
DMXL2	23312	broad.mit.edu	37	chr15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagttttacaccgcctcCaaaaacagcagcccacattc	4	15	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	ENST00000251076.5	-	28	7443	c.7156G>A	c.(7156-7158)Gga>Aga	p.G2386R	DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						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)		ACACCGCCTCCAAAAACAGCA	0.368																																						ENST00000251076.5																			0				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						c.(7156-7158)Gga>Aga		Dmx-like 2							58	63	61					15																	51766595		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51766595C>T	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.7156G>A	15.37:g.51766595C>T	ENSP00000251076:p.Gly2386Arg					DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R|RP11-707P17.1_ENST00000561007.1_RNA	p.G2386R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	28	7443	-			2386					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7156G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107236	0.94292	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.59906	0.3;0.3;0.23	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.81341	2.54	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;0.998;0.999;0.993	T	0.81178	-0.1051	10	0.87932	D	0	.	19.5897	0.95503	0.0:1.0:0.0:0.0	.	2387;1750;2386;2387	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2386;2387;1750	ENSP00000251076:G2386R;ENSP00000441858:G2387R;ENSP00000400855:G1750R	ENSP00000251076:G2386R	G	-	1	0	DMXL2	49553887	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.635000	0.89317	0.655000	0.94253	GGA		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	87	0	0	0	1	0	8	87					T	51766595	C	T	51766595	3	4	269	1	0	0	0	0	1	0	0	0	4595	603	21	2	2018	2	DMXL2	15	51766595	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		51766595	50764797	57	29567											
TLN2	83660	broad.mit.edu	37	chr15	63042617	63042617	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagactgtgaaggggatgtTggacaatcctaatgaacctg	13	6	0	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:63042617T>C	ENST00000561311.1	+	33	4366	c.4136T>C	c.(4135-4137)tTg>tCg	p.L1379S	TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S			Q9Y4G6	TLN2_HUMAN	talin 2	1379					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						AAGGGGATGTTGGACAATCCT	0.403																																						ENST00000561311.1																			0				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						c.(4135-4137)tTg>tCg		talin 2							261	238	246					15																	63042617		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63042617T>C	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.4136T>C	15.37:g.63042617T>C	ENSP00000453508:p.Leu1379Ser					TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S	p.L1379S			Q9Y4G6	TLN2_HUMAN			33	4366	+			1379					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4136T>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465955	0.84425	.	.	ENSG00000171914	ENST00000306829	T	0.74421	-0.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89585	0.3823	10	0.87932	D	0	-12.5922	16.3421	0.83085	0.0:0.0:0.0:1.0	.	1379	Q9Y4G6	TLN2_HUMAN	S	1379	ENSP00000303476:L1379S	ENSP00000303476:L1379S	L	+	2	0	TLN2	60829909	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.997000	0.88414	2.261000	0.74972	0.533000	0.62120	TTG		0.403	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	127	0	0	0	1	0	3	127					C	63042617	T	C	63042617	3	2	269	1	0	0	0	0	1	0	0	0	15945	1821	63	3	4258	3	TLN2	15	63042617	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11276022	63042617	39488775	58	29568											
MTFMT	123263	broad.mit.edu	37	chr15	65312542	65312542	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccttcactcaccgtaagtCgccccctccattggctgctg	8	17	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	ENST00000220058.4	-	5	727	c.714G>A	c.(712-714)gcG>gcA	p.A238A	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(712-714)gcG>gcA		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						36	40	39					15																	65312542		1972	4174	6146	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65312542C>T	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.714G>A	15.37:g.65312542C>T							p.A238A	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			5	727	-			238					B7Z734	Silent	SNP	ENST00000220058.4	37	c.714G>A	CCDS45280.1																																																																																				0.413	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		4	24	0	0	0	1	0	4	24					T	65312542	C	T	65312542	2	4	269	1	0	0	0	0	0	0	0	1	9924	871	31	1		1	MTFMT	15	65312542	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2269925	65312542	37218850	59	29569											
C16orf73	254528	broad.mit.edu	37	chr16	1889339	1889339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcagtcagatcaatcaGcacatggaaactgagaaaga	10	7	4	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:1889339G>A	ENST00000397344.3	-	12	1329	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000470044.1_Silent_p.L172L|MEIOB_ENST00000452149.2_Silent_p.L379L|FAHD1_ENST00000382668.4_3'UTR|FAHD1_ENST00000382666.4_3'UTR|MEIOB_ENST00000412554.2_Silent_p.L379L|MEIOB_ENST00000325962.3_Silent_p.L379L	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	379					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										AGATCAATCAGCACATGGAAA	0.423																																						ENST00000412554.2																			0											c.(1135-1137)Ctg>Ttg		meiosis specific with OB domains							95	90	92					16																	1889339		2199	4300	6499	SO:0001819	synonymous_variant	254528							g.chr16:1889339G>A	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1135C>T	16.37:g.1889339G>A						MEIOB_ENST00000470044.1_Silent_p.L172L|MEIOB_ENST00000452149.2_Silent_p.L379L|MEIOB_ENST00000397344.3_Silent_p.L379L|FAHD1_ENST00000382666.4_3'UTR|FAHD1_ENST00000382668.4_3'UTR|MEIOB_ENST00000325962.3_Silent_p.L379L	p.L379L	NM_001163560.2	NP_001157032.1					12	1329	-								B1AK39|C9J0S1|Q96RY0	Silent	SNP	ENST00000397344.3	37	c.1135C>T	CCDS10449.2																																																																																				0.423	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		3	44	0	0	0	1	0	3	44					A	1889339	G	A	1889339	2	1	269	1	0	0	0	0	0	0	0	1	1832	962	34	2		2	C16orf73	16	1889339	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		1889339	88465414	60	29570											
SRCAP	10847	broad.mit.edu	37	chr16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccaccacagcagtgccagctCcgactcctgcaccacagcgc	8	20	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	ENST00000262518.4	+	21	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1162	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)			AGTGCCAGCTCCGACTCCTGC	0.612																																						ENST00000262518.4																			0				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						c.(3484-3486)Ccg>Gcg		Snf2-related CREBBP activator protein							96	82	87					16																	30732740		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732740C>G	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.3484C>G	16.37:g.30732740C>G	ENSP00000262518:p.Pro1162Ala					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	p.P1162A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3869	+			1162			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3484C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	7.457	0.643831	0.14451	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.91686	-2.87;-2.89	5.26	3.32	0.38043	.	.	.	.	.	D	0.83431	0.5253	N	0.19112	0.55	0.80722	D	1	B;B	0.22683	0.073;0.044	B;B	0.23716	0.048;0.022	T	0.75808	-0.3187	9	0.41790	T	0.15	-1.5322	5.6643	0.17687	0.1442:0.6388:0.1395:0.0774	.	1162;1162	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	A	1162	ENSP00000262518:P1162A;ENSP00000378499:P1162A	ENSP00000262518:P1162A	P	+	1	0	SRCAP	30640241	0.007000	0.16637	0.976000	0.42696	0.456000	0.32438	0.438000	0.21559	0.790000	0.33803	0.563000	0.77884	CCG		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		32	80	0	0	0	1	0	32	80					G	30732740	C	G	30732740	3	3	269	1	0	0	0	0	1	0	0	0	15134	855	30	4	3558	4	SRCAP	16	30732740	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	28843401	30732740	59622013	61	29571											
SRCAP	10847	broad.mit.edu	37	chr16	30734516	30734516	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actctggtgaggcctcttctCaagctggtccacagtccttc	9	14	3	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	ENST00000262518.4	+	24	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	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)	p.L1375L(1)		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)			GGCCTCTTCTCAAGCTGGTCC	0.602																																						ENST00000262518.4																			1	Substitution - coding silent(1)	p.L1375L(1)	kidney(1)	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						c.(4123-4125)ctC>ctG		Snf2-related CREBBP activator protein							91	85	87					16																	30734516		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30734516C>G	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.4125C>G	16.37:g.30734516C>G						SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	p.L1375L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		24	4510	+			1375			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.4125C>G	CCDS10689.2																																																																																				0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		70	164	0	0	0	1	0	70	164					G	30734516	C	G	30734516	2	3	269	1	0	0	0	0	0	0	0	1	15134	813	29	4		4	SRCAP	16	30734516	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1776	30734516	59620237	62	29572											
C16orf46	123775	broad.mit.edu	37	chr16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctgttttcctgcttggCctttgggagaacatgctttc	12	10	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	ENST00000299578.5	-	4	1307	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	C16orf46_ENST00000378611.4_Missense_Mutation_p.A358T|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	358						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(1072-1074)Gcc>Acc		chromosome 16 open reading frame 46							156	148	151					16																	81094882		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81094882C>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.1072G>A	16.37:g.81094882C>T	ENSP00000299578:p.Ala358Thr					RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.A358T	p.A358T	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	1187	-			358					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.1072G>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945494	0.53079	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.20069	2.1;2.1	5.05	0.713	0.18173	.	0.207876	0.33895	N	0.004455	T	0.13157	0.0319	L	0.34521	1.04	0.27937	N	0.937667	B;B	0.31705	0.336;0.336	B;B	0.35353	0.201;0.201	T	0.12760	-1.0535	10	0.37606	T	0.19	.	3.4518	0.07501	0.3053:0.442:0.0:0.2527	.	358;358	Q6P387-2;Q6P387	.;CP046_HUMAN	T	358;85;358	ENSP00000367874:A358T;ENSP00000299578:A358T	ENSP00000299578:A358T	A	-	1	0	C16orf46	79652383	0.254000	0.23992	0.442000	0.26870	0.596000	0.36781	-0.053000	0.11846	-0.021000	0.14009	0.563000	0.77884	GCC		0.498	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		12	113	0	0	0	1	0	12	113					T	81094882	C	T	81094882	3	4	269	1	0	0	0	0	1	0	0	0	1815	739	26	2	147	2	C16orf46	16	81094882	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	50360366	81094882	9259871	63	29573											
ANKRD11	29123	broad.mit.edu	37	chr16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttcttttctgtagtccTttttcaataggtgcttgtcg	8	8	3	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369					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)		TCTGTAGTCCTTTTTCAATAG	0.453																																						ENST00000301030.4																			0				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						c.(1105-1107)aAg>aGg		ankyrin repeat domain 11							158	162	160					16																	89351844		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351844T>C	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.1106A>G	16.37:g.89351844T>C	ENSP00000301030:p.Lys369Arg					ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	1566	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	369					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1106A>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112102	0.56398	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.046390	0.85682	N	0.000000	T	0.63189	0.2490	M	0.71581	2.175	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.66666	-0.5866	10	0.62326	D	0.03	.	15.4164	0.74974	0.0:0.0:0.0:1.0	.	369	Q6UB99	ANR11_HUMAN	R	369;369;383	ENSP00000301030:K369R;ENSP00000367581:K369R	ENSP00000301030:K369R	K	-	2	0	ANKRD11	87879345	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.836000	0.86788	2.052000	0.61016	0.460000	0.39030	AAG		0.453	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		3	141	0	0	0	1	0	3	141					C	89351844	T	C	89351844	3	2	269	1	0	0	0	0	1	0	0	0	639	1609	56	3	6905	3	ANKRD11	16	89351844	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	8256962	89351844	1002909	64	29574											
PITPNM3	83394	broad.mit.edu	37	chr17	6381927	6381927	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtagacctggttggcTcgctcgatgacggtggcgac	14	11	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	ENST00000262483.8	-	7	804	c.717A>T	c.(715-717)cgA>cgT	p.R239R	PITPNM3_ENST00000421306.3_Silent_p.R203R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	239					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)		CCTGGTTGGCTCGCTCGATGA	0.632																																						ENST00000262483.8																			0											c.(715-717)cgA>cgT									81	70	74					17																	6381927		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr17:6381927T>A	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.717A>T	17.37:g.6381927T>A						ACKR6_ENST00000421306.3_Silent_p.R203R	p.R239R	NM_031220.3	NP_112497.2					7	804	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.717A>T	CCDS11076.1																																																																																				0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		10	50	0	0	0	1	0	10	50					A	6381927	T	A	6381927	2	1	269	1	0	0	0	0	0	0	0	1	11952	1538	54	5		5	PITPNM3	17	6381927	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08		6381927	74813283	65	29575											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	9	0	0	0	1	0	18	9					A	7577121	G	A	7577121	3	1	269	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	1195194	7577121	73618089	66	29576											
MPRIP	23164	broad.mit.edu	37	chr17	16979036	16979036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctaggcaaaacccattTatggcggttggctgctcctg	10	12	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:16979036T>C	ENST00000341712.4	+	2	136	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395811.5_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR|MPRIP-AS1_ENST00000428367.2_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	46	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAAACCCATTTATGGCGGTTG	0.547																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(136-138)Tat>Cat		myosin phosphatase Rho interacting protein							126	124	125					17																	16979036		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:16979036T>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.136T>C	17.37:g.16979036T>C	ENSP00000342379:p.Tyr46His					MPRIP_ENST00000341712.4_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR|MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H	p.Y46H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			2	225	+			46			Interaction with F-actin (By similarity).|PH 1.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.136T>C	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462584	0.84425	.	.	ENSG00000133030	ENST00000444976;ENST00000395807;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.38	5.38	0.77491	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.81541	0.4844	L	0.45581	1.43	0.48288	D	0.999624	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.993	T	0.81588	-0.0864	9	0.46703	T	0.11	.	13.6487	0.62297	0.0:0.0:0.0:1.0	.	46;46	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	H	46	ENSP00000400189:Y46H;ENSP00000379156:Y46H;ENSP00000379149:Y46H;ENSP00000342379:Y46H	ENSP00000342379:Y46H	Y	+	1	0	MPRIP	16919761	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.621000	0.74228	2.172000	0.68678	0.533000	0.62120	TAT		0.547	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		5	121	0	0	0	1	0	5	121					C	16979036	T	C	16979036	3	2	269	1	0	0	0	0	1	0	0	0	9743	1754	61	3	142	3	MPRIP	17	16979036	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	9401915	16979036	64216174	67	29577											
SGSH	6448	broad.mit.edu	37	chr17	78184761	78184761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcgagccaaagatggcGtagctggggtacgggatcga	16	8	1	1	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	ENST00000326317.6	-	8	1085	c.999C>T	c.(997-999)taC>taT	p.Y333Y	SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000534910.1_Silent_p.Y130Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	333					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAAAGATGGCGTAGCTGGGGT	0.652																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(997-999)taC>taT		N-sulfoglucosamine sulfohydrolase				5,4401	9.9+/-24.2	0,5,2198	71	54	60		999	-5.1	0.7	17	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	SGSH	NM_000199.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		333/503	78184761	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184761G>A	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.999C>T	17.37:g.78184761G>A						SGSH_ENST00000534910.1_Silent_p.Y130Y	p.Y333Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1085	-	all_neural(118;0.0952)		333					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.999C>T	CCDS11770.1																																																																																				0.652	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	80	0	0	0	1	0	4	80					A	78184761	G	A	78184761	2	1	269	1	0	0	0	0	0	0	0	1	14221	1140	40	1		1	SGSH	17	78184761	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	61205725	78184761	3010449	68	29578											
MUC16	94025	broad.mit.edu	37	chr19	9087885	9087885	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgttagtctctccAggagctgtcatctcaggtga	10	11	3	1	rs374700399		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	ENST00000397910.4	-	1	4133	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1310	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						TAGTCTCTCCAGGAGCTGTCA	0.507																																						ENST00000397910.4																			0				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						c.(3928-3930)ccT>ccC		mucin 16, cell surface associated		A		2,4118		0,2,2058	129	126	127		3930	0.4	0	19		127	0,8428		0,0,4214	no	coding-synonymous	MUC16	NM_024690.2		0,2,6272	GG,GA,AA		0.0,0.0485,0.0159		1310/14508	9087885	2,12546	2060	4214	6274	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087885A>G	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.3930T>C	19.37:g.9087885A>G							p.P1310P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4133	-			1310			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3930T>C	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	62	0	0	0	1	0	4	62					G	9087885	A	G	9087885	2	3	269	1	0	0	0	0	0	0	0	1	9973	175	7	3		3	MUC16	19	9087885	Silent	SNP	A	TCGA-HT-7689-01A-11D-2253-08		9087885	50041098	69	29579											
MUC16	94025	broad.mit.edu	37	chr19	9089322	9089322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgctaggactctctgaCgattctgaagtcagtgtccc	11	10	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	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						GACTCTCTGACGATTCTGAAG	0.498																																						ENST00000397910.4																			0				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						c.(2491-2493)tcG>tcA		mucin 16, cell surface associated							198	188	191					19																	9089322		2009	4174	6183	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089322C>T	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.2493G>A	19.37:g.9089322C>T							p.S831S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2696	-			831			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2493G>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	217	0	0	0	1	0	40	217					T	9089322	C	T	9089322	2	4	269	1	0	0	0	0	0	0	0	1	9973	523	19	1		1	MUC16	19	9089322	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1437	9089322	50039661	70	29580											
DOCK6	57572	broad.mit.edu	37	chr19	11347158	11347158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcagctcctgctccacGttgccctcgctcagcacagt	9	19	1	0	rs534173253	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	ENST00000294618.7	-	20	2267	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DOCK6_ENST00000319867.7_Silent_p.N56N|RN7SL298P_ENST00000581369.1_RNA|C19orf80_ENST00000591200.1_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752					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						CCTGCTCCACGTTGCCCTCGC	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		18929	0.0		0.0	False		,,,				2504	0.002					ENST00000294618.7																			0				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						c.(2254-2256)aaC>aaT		dedicator of cytokinesis 6							32	38	36					19																	11347158		2116	4219	6335	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11347158G>A		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.2256C>T	19.37:g.11347158G>A						DOCK6_ENST00000319867.7_Silent_p.N56N	p.N752N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			20	2267	-			752			DHR-1.		A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.2256C>T	CCDS45975.1																																																																																				0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	9	0	0	0	1	0	3	9					A	11347158	G	A	11347158	2	1	269	1	0	0	0	0	0	0	0	1	4691	1136	40	1		1	DOCK6	19	11347158	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2257836	11347158	47781825	71	29581											
GRAMD1A	57655	broad.mit.edu	37	chr19	35502409	35502409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttggggcccgtgaccGctgcttcctcctcatcttcc	8	17	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:35502409G>A	ENST00000317991.5	+	7	749	c.557G>A	c.(556-558)cGc>cAc	p.R186H	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	186						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCCGTGACCGCTGCTTCCTC	0.617																																						ENST00000504615.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19								GRAM domain containing 1A							83	91	89					19																	35502409		1973	4132	6105	SO:0001583	missense	57655					integral to membrane		g.chr19:35502409G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.557G>A	19.37:g.35502409G>A	ENSP00000441032:p.Arg186His					GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R186H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H				Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		0	713	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)							A6NKY7|Q8NC77|Q9P1Z5	Translation_Start_Site	SNP	ENST00000317991.5	37		CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030617	0.93575	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.26957	1.7;1.72	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.973	D;D;D;P	0.80764	0.992;0.994;0.992;0.689	T	0.40850	-0.9541	10	0.72032	D	0.01	.	14.7684	0.69657	0.0:0.0:1.0:0.0	.	186;186;179;273	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	273;186;179	ENSP00000441032:R186H;ENSP00000439267:R179H	ENSP00000441032:R186H	R	+	2	0	GRAMD1A	40194249	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.363000	0.97131	2.338000	0.79540	0.561000	0.74099	CGC		0.617	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		4	185	0	0	0	1	0	4	185					A	35502409	G	A	35502409	3	1	269	1	0	0	0	0	1	0	0	0	6747	1087	38	1	583	1	GRAMD1A	19	35502409	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	24155251	35502409	23626574	72	29582											
JAG1	182	broad.mit.edu	37	chr20	10624439	10624439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttacttattctgcagtcGggcccagcaaaacccggggc	10	14	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	ENST00000254958.5	-	20	2960	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_ENST00000423891.2_Silent_p.P656P|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	815	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCTGCAGTCGGGCCCAGCAA	0.498									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2443-2445)ccC>ccT		jagged 1							69	55	60					20																	10624439		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10624439G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2445C>T	20.37:g.10624439G>A						JAG1_ENST00000423891.2_Silent_p.P656P	p.P815P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			20	2960	-			815			EGF-like 15; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2445C>T	CCDS13112.1																																																																																				0.498	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		19	39	0	0	0	1	0	19	39					A	10624439	G	A	10624439	2	1	269	1	0	0	0	0	0	0	0	1	7934	1103	39	1		1	JAG1	20	10624439	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		10624439	52401081	73	29583											
SPTLC3	55304	broad.mit.edu	37	chr20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaatgggattcattAtctatggcaatgagaatgct	11	5	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	ENST00000399002.2	+	10	1628	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	452					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGGATTCATTATCTATGGCAA	0.428																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1354-1356)Atc>Gtc		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						170	161	164					20																	13134724		1934	4138	6072	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13134724A>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1354A>G	20.37:g.13134724A>G	ENSP00000381968:p.Ile452Val					SPTLC3_ENST00000378194.4_3'UTR	p.I452V	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			10	1628	+			452					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1354A>G	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	3.611	-0.079654	0.07141	.	.	ENSG00000172296	ENST00000399002	D	0.88586	-2.4	5.91	1.16	0.20824	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.194767	0.53938	N	0.000041	T	0.74336	0.3703	N	0.17345	0.48	0.80722	D	1	B	0.13594	0.008	B	0.17722	0.019	T	0.61412	-0.7068	10	0.02654	T	1	-4.7363	9.1142	0.36746	0.7036:0.0:0.2964:0.0	.	452	Q9NUV7	SPTC3_HUMAN	V	452	ENSP00000381968:I452V	ENSP00000381968:I452V	I	+	1	0	SPTLC3	13082724	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	1.839000	0.39220	-0.062000	0.13088	0.454000	0.30748	ATC		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		7	54	0	0	0	1	0	7	54					G	13134724	A	G	13134724	3	3	269	1	0	0	0	0	1	0	0	0	15124	449	16	3	1392	3	SPTLC3	20	13134724	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	2510285	13134724	49890796	74	29584											
SEL1L2	80343	broad.mit.edu	37	chr20	13912352	13912352	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agattttctcttttattgatTacattactagatgttctttg	5	5	2	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	ENST00000284951.5	-	3	254	c.180A>C	c.(178-180)gtA>gtC	p.V60V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.V60V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	60						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTGATTACATTACTAG	0.274																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(178-180)gtA>gtC		sel-1 suppressor of lin-12-like 2 (C. elegans)							75	69	70					20																	13912352		1785	4047	5832	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13912352T>G	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.180A>C	20.37:g.13912352T>G						SEL1L2_ENST00000378072.5_Silent_p.V60V|SEL1L2_ENST00000486903.1_5'UTR	p.V60V			Q5TEA6	SE1L2_HUMAN			3	254	-			60					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.180A>C																																																																																					0.274	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	34	0	0	0	1	0	3	34					G	13912352	T	G	13912352	2	3	269	1	0	0	0	0	0	0	0	1	14011	1741	61	5		5	SEL1L2	20	13912352	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	777628	13912352	49113168	75	29585											
GEMIN8	54960	broad.mit.edu	37	chrX	14027048	14027048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagaacttcagggggAtgaccggccagtacttgggc	15	10	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:14027048A>G	ENST00000380523.4	-	5	1031	c.713T>C	c.(712-714)aTc>aCc	p.I238T	GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	238					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						CTTCAGGGGGATGACCGGCCA	0.552																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(712-714)aTc>aCc		gem (nuclear organelle) associated protein 8							75	70	71					X																	14027048		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14027048A>G	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.713T>C	X.37:g.14027048A>G	ENSP00000369895:p.Ile238Thr					GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			5	1031	-			238					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.713T>C	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.485332	0.84854	.	.	ENSG00000046647	ENST00000380523;ENST00000398355	T;T	0.64260	-0.09;-0.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81284	-0.1002	10	0.87932	D	0	-9.4574	13.8801	0.63678	1.0:0.0:0.0:0.0	.	238	Q9NWZ8	GEMI8_HUMAN	T	238	ENSP00000369895:I238T;ENSP00000381398:I238T	ENSP00000369895:I238T	I	-	2	0	GEMIN8	13936969	1.000000	0.71417	0.829000	0.32907	0.904000	0.53231	9.115000	0.94336	1.875000	0.54330	0.430000	0.28490	ATC		0.552	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		3	101	0	0	0	1	0	3	101					G	14027048	A	G	14027048	3	3	269	1	0	0	0	0	1	0	0	0	6334	333	12	3	19	3	GEMIN8	23	14027048	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		14027048	141243512	76	29586											
GDPD2	54857	broad.mit.edu	37	chrX	69652260	69652260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggattcggtcaccaccaacGactgccagctgctgcagcag	11	14	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	ENST00000374382.3	+	13	1662	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.D522N	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	471	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1564-1566)Gac>Aac		glycerophosphodiester phosphodiesterase domain containing 2							177	141	153					X																	69652260		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652260G>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1411G>A	X.37:g.69652260G>A	ENSP00000363503:p.Asp471Asn					GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000374382.3_Missense_Mutation_p.D471N	p.D522N	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			14	1925	+	Renal(35;0.156)		471					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1564G>A	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724991	0.48833	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.193007	0.45867	D	0.000340	T	0.27866	0.0686	N	0.04994	-0.135	0.31017	N	0.718534	P;P	0.52692	0.955;0.866	B;B	0.41440	0.357;0.15	T	0.14671	-1.0464	9	.	.	.	-10.4626	15.4956	0.75646	0.0:0.0:1.0:0.0	.	522;471	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	N	522;392;392;471	ENSP00000414019:D522N;ENSP00000445982:D392N;ENSP00000444601:D392N;ENSP00000363503:D471N	.	D	+	1	0	GDPD2	69568985	1.000000	0.71417	0.943000	0.38184	0.988000	0.76386	3.137000	0.50562	2.214000	0.71695	0.468000	0.43344	GAC		0.512	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		49	106	0	0	0	1	0	49	106					A	69652260	G	A	69652260	3	1	269	1	0	0	0	0	1	0	0	0	6324	1058	37	1	1614	1	GDPD2	23	69652260	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	55625212	69652260	85618300	77	29587											
DLG3	1741	broad.mit.edu	37	chrX	69717042	69717042	+	Intron	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcttgcagagggagtgacatCcaacaccagtgacagcgaaa	12	10	0	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69717042C>G	ENST00000374360.3	+	14	2052				DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C|DLG3_ENST00000194900.4_Missense_Mutation_p.S629C|DLG3_ENST00000461646.1_3'UTR	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)						axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.S292C(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGAGTGACATCCAACACCAGT	0.498																																						ENST00000194900.4																			1	Substitution - Missense(1)	p.S292C(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(1885-1887)tCc>tGc		discs, large homolog 3 (Drosophila)							175	171	172					X																	69717042		2135	4237	6372	SO:0001627	intron_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69717042C>G	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1820-1328C>G	X.37:g.69717042C>G						DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000374360.3_Intron|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C	p.S629C			Q92796	DLG3_HUMAN			15	2227	+	Renal(35;0.156)		606			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.1886C>G	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055883	0.76074	.	.	ENSG00000082458	ENST00000194900;ENST00000374355;ENST00000542398	T;T;T	0.17528	2.58;2.27;3.01	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.42899	0.1223	.	.	.	0.80722	D	1	D;B	0.76494	0.999;0.022	D;B	0.77557	0.99;0.021	T	0.27088	-1.0084	8	.	.	.	.	16.6183	0.84922	0.0:1.0:0.0:0.0	.	146;292	B4E0H1;Q5JUW6	.;.	C	629;292;146	ENSP00000194900:S629C;ENSP00000363475:S292C;ENSP00000441393:S146C	.	S	+	2	0	DLG3	69633767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.601000	0.67606	2.387000	0.81309	0.594000	0.82650	TCC		0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		4	111	0	0	0	1	0	4	111					G	69717042	C	G	69717042	1	3	269	0	1	0	0	0	0	0	0	0	4556	855	30	4		4	DLG3	23	69717042	Intron	SNP	C	TCGA-HT-7689-01A-11D-2253-08	64782	69717042	85553518	78	29588											
ATRX	546	broad.mit.edu	37	chrX	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T													cctgctttaaaaatttaacaINStaactggagttcatgttggc					rs371831155		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	ENST00000373344.5	-	9	1323_1324	c.1109_1110insA	c.(1108-1110)tatfs	p.Y370fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.Y332fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	370					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						AAAATTTAACATAACTGGAGTT	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1108-1110)tgtfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939638_76939639insT	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.1110dupA	X.37:g.76939639_76939639dupT	ENSP00000362441:p.Tyr370fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C332fs|ATRX_ENST00000480283.1_5'UTR	p.C370fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1323_1324	-			370					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1109_1110insA	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		64	130						64	130	---	---	---	---	T	76939639	-	T	76939638	7	5	269	1	0	1	1	0	0	0	0	0	1208	224	8	0	6476	0	ATRX	23	76939638	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08	7222596	76939638	78330922	79	29589											
MCTS1	28985	broad.mit.edu	37	chrX	119739938	119739938	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacatttgtcttacagccatGaacatatagaaatccttaca	5	9	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	ENST00000371317.5	+	3	426	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	MCTS1_ENST00000371315.3_Missense_Mutation_p.E58K|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	57					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299																																						ENST00000371315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						c.(172-174)Gaa>Aaa		malignant T cell amplified sequence 1							45	42	43					X																	119739938		2200	4285	6485	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119739938G>A	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.169G>A	X.37:g.119739938G>A	ENSP00000360367:p.Glu57Lys					MCTS1_ENST00000371317.5_Missense_Mutation_p.E57K|MCTS1_ENST00000487133.1_3'UTR	p.E58K	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN			3	705	+			57					B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.172G>A	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005321	0.74932	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.45276	0.9;0.9	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.73962	2.25	0.80722	D	1	B;B	0.32031	0.352;0.158	B;B	0.31751	0.135;0.064	T	0.40079	-0.9582	9	.	.	.	-29.4474	12.7119	0.57094	0.0827:0.0:0.9173:0.0	.	58;57	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	K	57;58	ENSP00000360367:E57K;ENSP00000360365:E58K	.	E	+	1	0	MCTS1	119623966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.830000	0.86741	2.264000	0.75181	0.600000	0.82982	GAA		0.299	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1	NM_014060		4	50	0	0	0	1	0	4	50					A	119739938	G	A	119739938	3	1	269	1	0	0	0	0	1	0	0	0	9402	1291	45	2	197	2	MCTS1	23	119739938	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	42800300	119739938	35530622	80	29590											
GRIA3	2892	broad.mit.edu	37	chrX	122538740	122538740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactaaaatatggaacgGcatggttggggaacttgtct	13	5	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	ENST00000371251.1	+	10	1527	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D|GRIA3_ENST00000264357.5_Missense_Mutation_p.G492D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	492					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)	ATATGGAACGGCATGGTTGGG	0.378																																						ENST00000264357.5																			0				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						c.(1474-1476)gGc>gAc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						201	178	186					X																	122538740		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122538740G>A	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.1475G>A	X.37:g.122538740G>A	ENSP00000360297:p.Gly492Asp					GRIA3_ENST00000371251.1_Missense_Mutation_p.G492D|GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D	p.G492D	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			10	1767	+			492					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1475G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800993	0.90538	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	5.53	5.53	0.82687	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.91635	0.969;0.999;0.998	D	0.99683	1.0999	10	0.87932	D	0	.	17.5436	0.87855	0.0:0.0:1.0:0.0	.	476;492;492	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	D	492;492;492;492;476	ENSP00000264357:G492D;ENSP00000446146:G492D;ENSP00000360302:G492D;ENSP00000360297:G492D;ENSP00000446440:G476D	ENSP00000264357:G492D	G	+	2	0	GRIA3	122366421	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.813000	0.99286	2.445000	0.82738	0.594000	0.82650	GGC		0.378	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		31	242	0	0	0	1	0	31	242					A	122538740	G	A	122538740	3	1	269	1	0	0	0	0	1	0	0	0	6769	1203	42	2	1513	2	GRIA3	23	122538740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2798802	122538740	32731820	81	29591											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299120	125299120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccagggcccgtaccttgCggttgctggggttggtgctg	18	10	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	ENST00000360028.2	-	1	814	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R263H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										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						CCGTACCTTGCGGTTGCTGGG	0.637																																						ENST00000538699.1																			0				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						c.(787-789)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							38	43	41					X																	125299120		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299120C>T	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.788G>A	X.37:g.125299120C>T	ENSP00000353128:p.Arg263His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	868	-			263					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.788G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953815	0.18431	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63255	-0.03;-0.03	3.72	1.94	0.25998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.549990	0.13431	N	0.388455	T	0.52837	0.1759	L	0.57536	1.79	0.21697	N	0.999583	B	0.15719	0.014	B	0.10450	0.005	T	0.45308	-0.9270	10	0.40728	T	0.16	.	5.2143	0.15334	0.0:0.7235:0.0:0.2765	.	263	Q5VW00	DC122_HUMAN	H	263	ENSP00000441489:R263H;ENSP00000353128:R263H	ENSP00000353128:R263H	R	-	2	0	DCAF12L2	125126801	1.000000	0.71417	0.018000	0.16275	0.687000	0.40016	3.728000	0.54991	0.382000	0.24878	0.544000	0.68410	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		5	54	0	0	0	1	0	5	54					T	125299120	C	T	125299120	3	4	269	1	0	0	0	0	1	0	0	0	4265	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2760380	125299120	29971440	82	29592											
SLITRK2	84631	broad.mit.edu	37	chrX	144904329	144904329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagatattgagggaggacaCcttcctaggcctggagagcc	14	9	0	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:144904329C>A	ENST00000370490.1	+	1	4641	c.386C>A	c.(385-387)aCc>aAc	p.T129N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGACACCTTCCTAGGC	0.502																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(385-387)aCc>aAc		SLIT and NTRK-like family, member 2							82	64	70					X																	144904329		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904329C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.386C>A	X.37:g.144904329C>A	ENSP00000359521:p.Thr129Asn					SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N	p.T129N			Q9H156	SLIK2_HUMAN			1	4641	+	Acute lymphoblastic leukemia(192;6.56e-05)		129					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.386C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291203	0.80914	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	4.88	4.0	0.46444	.	0.000000	0.85682	U	0.000000	T	0.65729	0.2719	L	0.37697	1.125	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.66901	-0.5806	10	0.72032	D	0.01	-5.9442	11.9121	0.52745	0.0:0.8272:0.1728:0.0	.	129	Q9H156	SLIK2_HUMAN	N	129	ENSP00000334374:T129N;ENSP00000411681:T129N;ENSP00000359521:T129N;ENSP00000397015:T129N;ENSP00000407347:T129N;ENSP00000412010:T129N	ENSP00000334374:T129N	T	+	2	0	SLITRK2	144712021	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	4.946000	0.63576	0.819000	0.34492	0.600000	0.82982	ACC		0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		4	58	1	0	0.00909568	1	0.00939887	4	58					A	144904329	C	A	144904329	3	1	269	1	0	0	0	0	1	0	0	0	14743	507	18	4	388	4	SLITRK2	23	144904329	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	19605209	144904329	10366231	83	29593											
AFF2	2334	broad.mit.edu	37	chrX	148048318	148048318	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtcctcctttttcccAggagggagacactccaaaaa	7	11	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:148048318A>C	ENST00000370460.2	+	14	3392		c.e14-1		AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000286437.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTTTCCCAGGAGGGAGAC	0.443																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e14-1		AF4/FMR2 family, member 2							123	107	112					X																	148048318		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048318A>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2914-1A>C	X.37:g.148048318A>C						AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000286437.5_Splice_Site		NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3392	+	Acute lymphoblastic leukemia(192;6.56e-05)							A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37		CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270344	0.40194	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9368	0.41556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AFF2	147856012	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.926000	0.56491	1.806000	0.52798	0.417000	0.27973	.		0.443	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Intron	5	155	0	0	0	1	0	5	155					C	148048318	A	C	148048318	5	2	269	1	0	0	0	0	0	0	1	0	357	202	7	5	3021	5	AFF2	23	148048318	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08	3143989	148048318	7222242	84	29594											
GABRA3	2556	broad.mit.edu	37	chrX	151336862	151336862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcagtcgggctgtcctgCacgtaggtggccttgggtga	16	10	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	ENST00000370314.4	-	10	1555	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Silent_p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	439					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCTGTCCTGCACGTAGGTGG	0.522																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1315-1317)gtG>gtA		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						293	230	251					X																	151336862		2203	4300	6503	SO:0001819	synonymous_variant	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336862C>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1317G>A	X.37:g.151336862C>T						GABRA3_ENST00000535043.1_Silent_p.V439V|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.V439V	p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			10	1555	-	Acute lymphoblastic leukemia(192;6.56e-05)		439					Q8TAF9	Silent	SNP	ENST00000370314.4	37	c.1317G>A	CCDS14706.1																																																																																				0.522	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		80	203	0	0	0	1	0	80	203					T	151336862	C	T	151336862	2	4	269	1	0	0	0	0	0	0	0	1	6162	697	25	2		2	GABRA3	23	151336862	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	3288544	151336862	3933698	85	29595											
SLC30A2	7780	broad.mit.edu	37	chr1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggctacatacagctggcGctgggccttccccttcttgg	12	13	1	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:26371545G>A	ENST00000374278.3	-	2	430	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	72					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.R72C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532																																						ENST00000374278.3																			1	Substitution - Missense(1)	p.R72C(1)	lung(1)	cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13						c.(214-216)Cgc>Tgc		solute carrier family 30 (zinc transporter), member 2							140	137	138					1																	26371545		2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26371545G>A	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.214C>T	1.37:g.26371545G>A	ENSP00000363396:p.Arg72Cys					SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C	p.R72C	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	2	430	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	72					Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.214C>T	CCDS272.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549061	0.86127	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.68025	-0.3;-0.3	5.73	3.81	0.43845	.	0.081519	0.52532	D	0.000073	T	0.76521	0.3999	M	0.68593	2.085	0.80722	D	1	D;D	0.62365	0.991;0.978	P;P	0.58077	0.75;0.832	T	0.79186	-0.1907	10	0.87932	D	0	-15.4878	14.9558	0.71113	0.0:0.0:0.8057:0.1943	.	72;72	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	C	72	ENSP00000363396:R72C;ENSP00000363394:R72C	ENSP00000363394:R72C	R	-	1	0	SLC30A2	26244132	0.962000	0.33011	0.995000	0.50966	0.851000	0.48451	1.625000	0.37029	0.720000	0.32209	0.655000	0.94253	CGC		0.532	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		91	115	0	0	0	1	0	91	115					A	26371545	G	A	26371545	3	1	270	1	0	0	0	0	1	0	0	0	14555	1087	38	1	932	1	SLC30A2	1	26371545	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		26371545	222879076	1	29596											
NOTCH2	4853	broad.mit.edu	37	chr1	120510154	120510154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatgtccatctcacaaCgaggtcctgcataacccttc	6	14	1	1	rs587595062		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:120510154C>T	ENST00000256646.2	-	8	1574	c.1355G>A	c.(1354-1356)cGt>cAt	p.R452H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	452	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTCACAACGAGGTCCTGC	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		20444	0.0		0.0	False		,,,				2504	0.001					ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1354-1356)cGt>cAt		notch 2							189	156	167					1																	120510154		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510154C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1355G>A	1.37:g.120510154C>T	ENSP00000256646:p.Arg452His						p.R452H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1574	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	452			EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1355G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278331	0.95459	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.94092	-3.35	5.68	5.68	0.88126	EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.35970	U	0.002869	D	0.94162	0.8127	L	0.38838	1.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.996;0.999	D	0.93672	0.6991	10	0.44086	T	0.13	.	18.7702	0.91888	0.0:1.0:0.0:0.0	.	413;452;452	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	H	452;413	ENSP00000256646:R452H	ENSP00000256646:R452H	R	-	2	0	NOTCH2	120311677	1.000000	0.71417	0.977000	0.42913	0.909000	0.53808	7.487000	0.81328	2.672000	0.90937	0.650000	0.86243	CGT		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	111	0	0	0	1	0	10	111					T	120510154	C	T	120510154	3	4	270	1	0	0	0	0	1	0	0	0	10548	536	19	1	6168	1	NOTCH2	1	120510154	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	94138609	120510154	128740467	2	29597											
XCL1	6375	broad.mit.edu	37	chr1	168550354	168550354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatgggtgagagacgtgGtcaggagcatggacaggaaa	16	7	1	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:168550354G>A	ENST00000367818.3	+	3	406	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	81					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGAGACGTGGTCAGGAGCAT	0.483																																						ENST00000367818.3																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(241-243)Gtc>Atc		chemokine (C motif) ligand 1							209	189	196					1																	168550354		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168550354G>A	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"Endogenous ligands"	10645	protein-coding gene	gene with protein product		600250	"small inducible cytokine subfamily C, member 1 (lymphotactin)"	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.241G>A	1.37:g.168550354G>A	ENSP00000356792:p.Val81Ile						p.V81I	NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN			3	406	+	all_hematologic(923;0.208)		81					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.241G>A	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	G	0.234	-1.018733	0.02078	.	.	ENSG00000143184	ENST00000367818	T	0.03860	3.78	4.83	-2.56	0.06268	Chemokine interleukin-8-like domain (3);	0.836448	0.10746	N	0.638859	T	0.00580	0.0019	N	0.05078	-0.115	0.24240	N	0.995364	B	0.23442	0.085	B	0.23574	0.047	T	0.44112	-0.9349	9	0.02654	T	1	-12.6962	10.178	0.42950	0.7398:0.0:0.2602:0.0	.	81	P47992	XCL1_HUMAN	I	81	ENSP00000356792:V81I	ENSP00000356792:V81I	V	+	1	0	XCL1	166816978	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.026000	0.12392	-0.345000	0.08325	-0.140000	0.14226	GTC		0.483	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		21	40	0	0	0	1	0	21	40					A	168550354	G	A	168550354	3	1	270	1	0	0	0	0	1	0	0	0	17420	1261	44	2	251	2	XCL1	1	168550354	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	48040200	168550354	80700267	3	29598											
MIA3	375056	broad.mit.edu	37	chr1	222828024	222828024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaattggaagatgaccGcaactcactacaagctgcca	8	10	1	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:222828024G>A	ENST00000344922.5	+	18	4521	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1499					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)		GAAGATGACCGCAACTCACTA	0.448																																						ENST00000344922.5																			0				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						c.(4495-4497)cGc>cAc		melanoma inhibitory activity family, member 3							85	81	82					1																	222828024		1944	4144	6088	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222828024G>A		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.4496G>A	1.37:g.222828024G>A	ENSP00000340900:p.Arg1499His					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H|MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H	p.R1499H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	18	4521	+			1499					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4496G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194151	0.58017	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.42900	0.97;0.97;0.96	5.32	2.25	0.28309	.	.	.	.	.	T	0.37598	0.1009	N	0.22421	0.69	0.09310	N	1	D;D	0.76494	0.994;0.999	P;P	0.60236	0.729;0.871	T	0.17379	-1.0371	9	0.14252	T	0.57	.	5.7201	0.17982	0.0851:0.1989:0.6032:0.1128	.	377;1499	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	H	1499;1499;1440;377;377	ENSP00000340900:R1499H;ENSP00000340587:R1499H;ENSP00000345866:R377H	ENSP00000284471:R377H	R	+	2	0	MIA3	220894647	0.002000	0.14202	0.015000	0.15790	0.809000	0.45718	1.373000	0.34272	1.360000	0.45960	0.655000	0.94253	CGC		0.448	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		3	72	0	0	0	1	0	3	72					A	222828024	G	A	222828024	3	1	270	1	0	0	0	0	1	0	0	0	9565	1087	38	1	4566	1	MIA3	1	222828024	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	54277670	222828024	26422597	4	29599											
AOX1	316	broad.mit.edu	37	chr2	201524011	201524011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatctcaacggtttggcaGtaaaggtaacagtcactgca	10	9	2	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:201524011G>A	ENST00000374700.2	+	28	3536	c.3295G>A	c.(3295-3297)Gta>Ata	p.V1099I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1099					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.V1099I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGGTTTGGCAGTAAAGGTAAC	0.498																																						ENST00000374700.2																			1	Substitution - Missense(1)	p.V1099I(1)	pancreas(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3295-3297)Gta>Ata		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						160	143	149					2																	201524011		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201524011G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3295G>A	2.37:g.201524011G>A	ENSP00000363832:p.Val1099Ile					AOX1_ENST00000485106.1_3'UTR	p.V1099I	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			28	3536	+			1099					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3295G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123272	0.77436	.	.	ENSG00000138356	ENST00000374700	T	0.43688	0.94	5.15	3.27	0.37495	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.059207	0.64402	N	0.000003	T	0.58680	0.2139	M	0.79343	2.45	0.58432	D	0.999999	P	0.40000	0.698	P	0.55508	0.777	T	0.61108	-0.7129	10	0.51188	T	0.08	-43.9851	10.8169	0.46583	0.0715:0.1306:0.7979:0.0	.	1099	Q06278	ADO_HUMAN	I	1099	ENSP00000363832:V1099I	ENSP00000363832:V1099I	V	+	1	0	AOX1	201232256	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.671000	0.54576	1.405000	0.46838	-0.258000	0.10820	GTA		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	132	0	0	0	1	0	4	132					A	201524011	G	A	201524011	3	1	270	1	0	0	0	0	1	0	0	0	729	1029	36	2	3405	2	AOX1	2	201524011	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		201524011	41675362	5	29600											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	61	0	0	0	1	0	34	61					T	209113112	C	T	209113112	3	4	270	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	7589101	209113112	34086261	6	29601											
CNOT6L	246175	broad.mit.edu	37	chr4	78665985	78665985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatatagctgccgggtagCgtatttatcacataacacat	8	10	1	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:78665985C>T	ENST00000504123.1	-	7	734	c.604G>A	c.(604-606)Gct>Act	p.A202T	CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	202	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						TGCCGGGTAGCGTATTTATCA	0.393																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(604-606)Gct>Act		CCR4-NOT transcription complex, subunit 6-like							71	65	67					4																	78665985		1947	4154	6101	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78665985C>T	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.604G>A	4.37:g.78665985C>T	ENSP00000424896:p.Ala202Thr					CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T	p.A202T			Q96LI5	CNO6L_HUMAN			7	734	-			202					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.604G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.575657|5.575657	0.96553|0.96553	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485|ENST00000515506	T;T;T|.	0.40476|.	1.03;1.03;1.16|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Endonuclease/exonuclease/phosphatase (2);|.	0.049510|.	0.85682|.	D|.	0.000000|.	D|D	0.85057|0.85057	0.5610|0.5610	M|M	0.89658|0.89658	3.05|3.05	0.80722|0.80722	D|D	1|1	D;P|.	0.69078|.	0.997;0.95|.	P;P|.	0.58331|.	0.837;0.564|.	D|D	0.87576|0.87576	0.2481|0.2481	10|5	0.52906|.	T|.	0.07|.	-6.0694|-6.0694	19.0165|19.0165	0.92897|0.92897	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	175;202|.	Q96LI5-2;Q96LI5|.	.;CNO6L_HUMAN|.	T|H	202;202;209|230	ENSP00000424896:A202T;ENSP00000264903:A202T;ENSP00000425571:A209T|.	ENSP00000264903:A202T|.	A|R	-|-	1|2	0|0	CNOT6L|CNOT6L	78885009|78885009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.792000|7.792000	0.85828|0.85828	2.584000|2.584000	0.87258|0.87258	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			13	13	0	0	0	1	0	13	13					T	78665985	C	T	78665985	3	4	270	1	0	0	0	0	1	0	0	0	3623	768	27	1	1087	1	CNOT6L	4	78665985	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		78665985	112488291	7	29602											
NHEDC1	150159	broad.mit.edu	37	chr4	103822448	103822448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggttccaagtggggtgcGgagactcttgctgtttctag	14	7	2	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:103822448G>A	ENST00000296422.7	-	12	1515	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	458					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTGGGGTGCGGAGACTCTTG	0.428																																						ENST00000296422.7																			0											c.(1372-1374)tcC>tcT		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							81	84	83					4																	103822448		2181	4255	6436	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822448G>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1374C>T	4.37:g.103822448G>A						SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	p.S458S	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			12	1515	-			458					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.1374C>T	CCDS34041.1																																																																																				0.428	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		15	216	0	0	0	1	0	15	216					A	103822448	G	A	103822448	2	1	270	1	0	0	0	0	0	0	0	1	10400	1103	39	1		1	NHEDC1	4	103822448	Silent	SNP	G	TCGA-HT-7690-01A-11D-2253-08	25156463	103822448	87331828	8	29603											
ADRA1B	147	broad.mit.edu	37	chr5	159344767	159344767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtcaaactttttaaGttctccagggaaaagaaagc	8	7	2	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr5:159344767G>T	ENST00000306675.3	+	1	978	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	285					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)	AACTTTTTAAGTTCTCCAGGG	0.498																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(853-855)aaG>aaT		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						98	99	98					5																	159344767		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344767G>T	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.855G>T	5.37:g.159344767G>T	ENSP00000306662:p.Lys285Asn						p.K285N	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	978	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	285					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.855G>T	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708521	0.48517	.	.	ENSG00000170214	ENST00000306675	D	0.84146	-1.81	5.93	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	M	0.69248	2.105	0.42288	D	0.992126	D	0.89917	1.0	D	0.85130	0.997	D	0.89140	0.3516	10	0.87932	D	0	.	8.2508	0.31717	0.2481:0.0:0.7519:0.0	.	285	P35368	ADA1B_HUMAN	N	285	ENSP00000306662:K285N	ENSP00000306662:K285N	K	+	3	2	ADRA1B	159277345	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.506000	0.22658	0.821000	0.34540	0.655000	0.94253	AAG		0.498	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			43	48	1	0	2.61675e-31	1	2.85464e-31	43	48					T	159344767	G	T	159344767	3	4	270	1	0	0	0	0	1	0	0	0	335	1020	36	4	857	4	ADRA1B	5	159344767	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		159344767	21570493	9	29604											
PKHD1	5314	broad.mit.edu	37	chr6	51747892	51747892	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacactaaggcacttaccTtgtgggcaaaatgaccaagt	8	11	0	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr6:51747892T>C	ENST00000371117.3	-	46	7624	c.7349A>G	c.(7348-7350)aAg>aGg	p.K2450R	PKHD1_ENST00000340994.4_Splice_Site_p.K2450R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2450					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)					GGCACTTACCTTGTGGGCAAA	0.388																																						ENST00000371117.3																			0				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						c.e46+1		polycystic kidney and hepatic disease 1 (autosomal recessive)							79	62	68					6																	51747892		2202	4300	6502	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51747892T>C	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.7350+1A>G	6.37:g.51747892T>C						PKHD1_ENST00000340994.4_Splice_Site_p.K2450_splice	p.K2450_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			46	7624	-	Lung NSC(77;0.0605)		2450					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37	c.7350_splice	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035726	0.54896	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.05;-2.24	5.6	5.6	0.85130	.	0.130908	0.52532	D	0.000070	T	0.80513	0.4637	M	0.72479	2.2	0.80722	D	1	B;B;B	0.27971	0.191;0.196;0.191	B;B;B	0.35470	0.122;0.203;0.1	T	0.77616	-0.2521	10	0.14252	T	0.57	.	13.148	0.59474	0.0:0.0:0.0:1.0	.	2450;2450;2450	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2450	ENSP00000360158:K2450R;ENSP00000341097:K2450R	ENSP00000341097:K2450R	K	-	2	0	PKHD1	51855851	0.994000	0.37717	0.948000	0.38648	0.910000	0.53928	2.001000	0.40825	2.143000	0.66587	0.482000	0.46254	AAG		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Missense_Mutation	12	19	0	0	0	1	0	12	19					C	51747892	T	C	51747892	5	2	270	1	0	0	0	0	0	0	1	0	11971	1623	56	3	5002	3	PKHD1	6	51747892	Splice_Site	SNP	T	TCGA-HT-7690-01A-11D-2253-08		51747892	119367175	10	29605											
KEL	3792	broad.mit.edu	37	chr7	142658506	142658506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaaggagcaggcccAaaatcaggatagctgtcagc	10	9	2	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr7:142658506A>C	ENST00000355265.2	-	3	638	c.164T>G	c.(163-165)tTg>tGg	p.L55W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	55					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCAGGCCCAAAATCAGGAT	0.567																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(163-165)tTg>tGg		Kell blood group, metallo-endopeptidase							47	45	46					7																	142658506		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658506A>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.164T>G	7.37:g.142658506A>C	ENSP00000347409:p.Leu55Trp					KEL_ENST00000479768.2_5'UTR	p.L55W	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			3	638	-	Melanoma(164;0.059)		55					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.164T>G	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.12|15.12	2.739383|2.739383	0.49045|0.49045	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;T;D	.|0.87887	.|-1.93;0.51;-2.31	4.41|4.41	3.24|3.24	0.37175|0.37175	.|.	.|1.370480	.|0.04983	.|N	.|0.465969	T|T	0.81870|0.81870	0.4914|0.4914	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P	.|0.46327	.|0.876	.|B	.|0.43360	.|0.417	T|T	0.70868|0.70868	-0.4755|-0.4755	5|10	.|0.62326	.|D	.|0.03	-12.3088|-12.3088	7.7121|7.7121	0.28684|0.28684	0.7734:0.2266:0.0:0.0|0.7734:0.2266:0.0:0.0	.|.	.|55	.|P23276	.|KELL_HUMAN	L|W	65|55;55;36	.|ENSP00000347409:L55W;ENSP00000419889:L55W;ENSP00000420011:L36W	.|ENSP00000347409:L55W	F|L	-|-	3|2	2|0	KEL|KEL	142368628|142368628	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.864000|0.864000	0.27926|0.27926	0.734000|0.734000	0.32515|0.32515	0.529000|0.529000	0.55759|0.55759	TTT|TTG		0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		14	12	0	0	0	1	0	14	12					C	142658506	A	C	142658506	3	2	270	1	0	0	0	0	1	0	0	0	8142	131	5	5	2102	5	KEL	7	142658506	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		142658506	16480157	11	29606											
KCNB2	9312	broad.mit.edu	37	chr8	73848875	73848875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttacaaggagcagaaaCgccaagagaaagcaattaaa	9	6	0	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:73848875C>T	ENST00000523207.1	+	3	1873	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					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)	GGAGCAGAAACGCCAAGAGAA	0.438																																						ENST00000523207.1																			0				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						c.(1285-1287)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 2							61	65	64					8																	73848875		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848875C>T	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.1285C>T	8.37:g.73848875C>T	ENSP00000430846:p.Arg429Cys						p.R429C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1873	+	Breast(64;0.137)		429					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1285C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234429	0.58886	.	.	ENSG00000182674	ENST00000523207	D	0.97598	-4.45	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000294	D	0.98083	0.9368	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98727	1.0711	10	0.87932	D	0	.	15.3411	0.74296	0.1482:0.8518:0.0:0.0	.	429	Q92953	KCNB2_HUMAN	C	429	ENSP00000430846:R429C	ENSP00000430846:R429C	R	+	1	0	KCNB2	74011429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.090000	0.57693	2.633000	0.89246	0.563000	0.77884	CGC		0.438	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	56	0	0	0	1	0	4	56					T	73848875	C	T	73848875	3	4	270	1	0	0	0	0	1	0	0	0	8013	536	19	1	1291	1	KCNB2	8	73848875	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		73848875	72515147	12	29607											
EPPK1	83481	broad.mit.edu	37	chr8	144946590	144946590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaccctccaggtagcgccGcacctcggcacgtgcactca	11	17	1	0	rs377622455		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:144946590G>A	ENST00000525985.1	-	2	903	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W				P58107	EPIPL_HUMAN	epiplakin 1	278						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)			AGGTAGCGCCGCACCTCGGCA	0.682																																						ENST00000525985.1																			0				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						c.(832-834)Cgg>Tgg		epiplakin 1		G	TRP/ARG	2,4340		0,2,2169	19	23	21		832	1.9	0.1	8		21	0,8506		0,0,4253	no	missense	EPPK1	NM_031308.1	101	0,2,6422	AA,AG,GG		0.0,0.0461,0.0156	probably-damaging	278/2420	144946590	2,12846	2171	4253	6424	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946590G>A	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.832C>T	8.37:g.144946590G>A	ENSP00000436337:p.Arg278Trp						p.R278W			P58107	EPIPL_HUMAN	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)		2	903	-	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)		278					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.832C>T		.	.	.	.	.	.	.	.	.	.	G	10.42	1.346285	0.24426	4.61E-4	0.0	ENSG00000227184	ENST00000525985	T	0.69435	-0.4	4.81	1.89	0.25635	.	.	.	.	.	T	0.61311	0.2337	L	0.52011	1.625	0.09310	N	1	D	0.69078	0.997	P	0.44477	0.451	T	0.51325	-0.8720	9	0.35671	T	0.21	.	12.055	0.53529	0.0:0.0:0.3651:0.6349	.	278	E9PPU0	.	W	278	ENSP00000436337:R278W	ENSP00000436337:R278W	R	-	1	2	EPPK1	145018578	0.000000	0.05858	0.064000	0.19789	0.079000	0.17450	-0.001000	0.12947	0.181000	0.19994	0.511000	0.50034	CGG		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	20	0	0	0	1	0	3	20					A	144946590	G	A	144946590	3	1	270	1	0	0	0	0	1	0	0	0	5190	1086	38	1	6434	1	EPPK1	8	144946590	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	71097715	144946590	1417432	13	29608											
SLIT1	6585	broad.mit.edu	37	chr10	98819232	98819232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagcgagttcagggagCggaggccctggaaggcgtcg	17	11	2	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr10:98819232C>T	ENST00000266058.4	-	11	1315	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	357					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCAGGGAGCGGAGGCCCTG	0.622																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1069-1071)cGc>cAc		slit homolog 1 (Drosophila)							86	78	81					10																	98819232		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98819232C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1070G>A	10.37:g.98819232C>T	ENSP00000266058:p.Arg357His					SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H	p.R357H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	11	1315	-		Colorectal(252;0.162)	357					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1070G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649110	0.87958	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.59638	0.45;0.45;0.45;0.25	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	L	0.55834	1.745	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.74137	-0.3762	10	0.72032	D	0.01	.	14.9576	0.71127	0.1433:0.8567:0.0:0.0	.	367;357	E7EWQ8;O75093	.;SLIT1_HUMAN	H	357;367;333;357;350;333;357	ENSP00000266058:R357H;ENSP00000360109:R357H;ENSP00000315005:R350H;ENSP00000360080:R357H	ENSP00000266058:R357H	R	-	2	0	SLIT1	98809222	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.485000	0.60279	2.385000	0.81259	0.561000	0.74099	CGC		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		19	53	0	0	0	1	0	19	53					T	98819232	C	T	98819232	3	4	270	1	0	0	0	0	1	0	0	0	14739	768	27	1	3642	1	SLIT1	10	98819232	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		98819232	36715515	14	29609											
CDC42BPG	55561	broad.mit.edu	37	chr11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcctcacccccatgcGcaggctgcgtcggccctccg	10	20	1	0	rs200874110		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:64601218G>A	ENST00000342711.5	-	22	2556	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C	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						ACCCCCATGCGCAGGCTGCGT	0.687																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(2557-2559)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							36	40	39					11																	64601218		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64601218G>A	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.2557C>T	11.37:g.64601218G>A	ENSP00000345133:p.Arg853Cys						p.R853C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			22	2556	-			853						Missense_Mutation	SNP	ENST00000342711.5	37	c.2557C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530481	0.64860	.	.	ENSG00000171219	ENST00000342711	T	0.68765	-0.35	5.18	5.18	0.71444	.	0.320083	0.22057	N	0.065235	T	0.57388	0.2050	N	0.08118	0	0.52501	D	0.999951	D	0.76494	0.999	P	0.51806	0.68	T	0.65417	-0.6173	10	0.62326	D	0.03	.	14.5737	0.68229	0.0:0.0:1.0:0.0	.	853	Q6DT37	MRCKG_HUMAN	C	853	ENSP00000345133:R853C	ENSP00000345133:R853C	R	-	1	0	CDC42BPG	64357794	0.969000	0.33509	0.998000	0.56505	0.184000	0.23303	5.003000	0.63959	2.595000	0.87683	0.561000	0.74099	CGC		0.687	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		3	40	0	0	0	1	0	3	40					A	64601218	G	A	64601218	3	1	270	1	0	0	0	0	1	0	0	0	3074	1087	38	1	2162	1	CDC42BPG	11	64601218	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		64601218	70405298	15	29610											
ABCC11	85320	broad.mit.edu	37	chr16	48211013	48211013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgtgtaaaggagcttcCgagacacacatcttgttttt	8	9	1	1	rs552190839		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr16:48211013C>T	ENST00000394747.1	-	24	3709	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000394748.1_Silent_p.S1120S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1120					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)	AAGGAGCTTCCGAGACACACA	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21293	0.0		0.0	False		,,,				2504	0.0					ENST00000394747.1																			0				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						c.(3358-3360)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							113	105	107					16																	48211013		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48211013C>T	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.3360G>A	16.37:g.48211013C>T						ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S1120S	p.S1120S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			24	3709	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1120					Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3360G>A	CCDS10732.1																																																																																				0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		14	27	0	0	0	1	0	14	27					T	48211013	C	T	48211013	2	4	270	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48211013	Silent	SNP	C	TCGA-HT-7690-01A-11D-2253-08		48211013	42143740	16	29611											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	14	4	0	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(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	GRCh37	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126	100	109					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		66	17	0	0	0	1	0	66	17					C	7577574	T	C	7577574	3	2	270	1	0	0	0	0	1	0	0	0	16378	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		7577574	73617636	17	29612											
EVI2B	2124	broad.mit.edu	37	chr17	29631309	29631309	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcaggtggaggtggcAgggattcattaagatcttga	15	5	3	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:29631309A>T	ENST00000330927.4	-	2	1473	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	440						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGAGGTGGCAGGGATTCATT	0.363																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(1318-1320)cTg>cAg		ecotropic viral integration site 2B							89	88	89					17																	29631309		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631309A>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.1319T>A	17.37:g.29631309A>T	ENSP00000333779:p.Leu440Gln					EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q	p.L440Q	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1473	-		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)	440					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.1319T>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959394	0.74016	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.65364	-0.14;-0.15	5.63	5.63	0.86233	.	0.000000	0.37483	N	0.002061	T	0.70211	0.3198	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	0.73225	-0.4050	10	0.87932	D	0	-3.4078	12.225	0.54455	1.0:0.0:0.0:0.0	.	455;440	B7Z4A7;P34910	.;EVI2B_HUMAN	Q	440;455	ENSP00000333779:L440Q;ENSP00000439738:L455Q	ENSP00000333779:L440Q	L	-	2	0	EVI2B	26655435	0.999000	0.42202	0.997000	0.53966	0.970000	0.65996	4.977000	0.63792	2.145000	0.66743	0.528000	0.53228	CTG		0.363	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		3	64	0	0	0	1	0	3	64					T	29631309	A	T	29631309	3	4	270	1	0	0	0	0	1	0	0	0	5288	188	7	5	31	5	EVI2B	17	29631309	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	22053735	29631309	51563901	18	29613											
SLFN11	91607	broad.mit.edu	37	chr17	33690253	33690273	+	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	GGTCAGCAGGATCCGAGTTTG	-													atagtctttttggaaaattaGgtcagcaggatccgagtttg							TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	ENST00000394566.1	-	4	826_846	c.554_574delCAAACTCGGATCCTGCTGACC	c.(553-576)ccaaactcggatcctgctgaccta>cta	p.PNSDPAD185del	SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPAD185del	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	185					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)	p.S187S(1)		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)		TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG	0.412																																						ENST00000394566.1																			1	Substitution - coding silent(1)	p.S187S(1)	kidney(1)	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						c.(553-576)cta>c		schlafen family member 11																																				SO:0001651	inframe_deletion	91607					nucleus	ATP binding	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	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.554_574delCAAACTCGGATCCTGCTGACC	17.37:g.33690253_33690273delGGTCAGCAGGATCCGAGTTTG	ENSP00000378067:p.Pro185_Asp191del					SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPADL185del	p.PNSDPADL185del	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		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	826_846	-		Ovarian(249;0.17)	185					E1P643|Q8N3S8|Q8N762|Q8TEE0	In_Frame_Del	DEL	ENST00000394566.1	37	c.554_574delCAAACTCGGATCCTGCTGACC	CCDS11294.1																																																																																				0.412	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		20	134						20	134	---	---	---	---	-	33690273	GGTCAGCAGGATCCGAGTTTG	-	33690253	7	5	270	1	0	1	0	1	0	0	0	0	14733	991	35	0	2147	0	SLFN11	17	33690253	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	TCGA-HT-7690-01A-11D-2253-08	4058944	33690253	47504957	19	29614											
RNF43	54894	broad.mit.edu	37	chr17	56435582	56435582	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggctgcatgtccactcGctggggatcccctttagggc	12	13	0	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:56435582G>A	ENST00000584437.1	-	8	3510	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	519					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCCACTCGCTGGGGATCC	0.592																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1555-1557)Cga>Tga		ring finger protein 43							89	85	87					17																	56435582		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435582G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1555C>T	17.37:g.56435582G>A	ENSP00000463069:p.Arg519*					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478*	p.R519*			Q68DV7	RNF43_HUMAN			8	3510	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		519					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.1555C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876427	0.97904	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	3.73	-3.41	0.04839	.	0.735547	0.12440	N	0.468721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-9.4689	11.6545	0.51309	0.0:0.2965:0.6143:0.0892	.	.	.	.	X	519;478	.	ENSP00000385328:R519X	R	-	1	2	RNF43	53790581	0.000000	0.05858	0.000000	0.03702	0.433000	0.31745	-0.620000	0.05565	-0.501000	0.06605	0.174000	0.16983	CGA		0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		62	72	0	0	0	1	0	62	72					A	56435582	G	A	56435582	4	1	270	1	0	0	0	0	0	1	0	0	13495	1095	38	1	804	1	RNF43	17	56435582	Nonsense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	22745329	56435582	24759628	20	29615											
MARCH10	162333	broad.mit.edu	37	chr17	60879010	60879010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttctgcaattacctgAtactcagagtccaccttatg	6	11	2	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:60879010A>G	ENST00000311269.5	-	2	361	c.87T>C	c.(85-87)taT>taC	p.Y29Y	MARCH10_ENST00000544856.2_Silent_p.Y29Y|MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000456609.2_Silent_p.Y29Y	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	29					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAATTACCTGATACTCAGAGT	0.428																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(85-87)taT>taC		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							180	137	152					17																	60879010		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60879010A>G	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.87T>C	17.37:g.60879010A>G						MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000311269.5_Silent_p.Y29Y|MARCH10_ENST00000456609.2_Silent_p.Y29Y	p.Y29Y			Q8NA82	MARHA_HUMAN			3	465	-			29					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.87T>C	CCDS11635.1																																																																																				0.428	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		19	137	0	0	0	1	0	19	137					G	60879010	A	G	60879010	2	3	270	1	0	0	0	0	0	0	0	1	9299	340	12	3		3	MARCH10	17	60879010	Silent	SNP	A	TCGA-HT-7690-01A-11D-2253-08	4443428	60879010	20316200	21	29616											
MOBKL2A	126308	broad.mit.edu	37	chr19	2076843	2076843	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttggtgtcgatgaggccGaactccttgacgaaatagta	11	9	0	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:2076843G>A	ENST00000357066.3	-	4	970	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MOB3A_ENST00000592280.1_Silent_p.F197F|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	197						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CGATGAGGCCGAACTCCTTGA	0.622																																						ENST00000357066.3																			0											c.(589-591)ttC>ttT		MOB kinase activator 3A							80	68	72					19																	2076843		2203	4300	6503	SO:0001819	synonymous_variant	126308					intracellular	metal ion binding	g.chr19:2076843G>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.591C>T	19.37:g.2076843G>A						MOB3A_ENST00000592280.1_Silent_p.F197F|MOB3A_ENST00000592143.1_Intron	p.F197F	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	970	-			197					B3KTF1|O75249|Q8TF69	Silent	SNP	ENST00000357066.3	37	c.591C>T	CCDS12081.1																																																																																				0.622	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		22	28	0	0	0	1	0	22	28					A	2076843	G	A	2076843	2	1	270	1	0	0	0	0	0	0	0	1	9684	1049	37	1		1	MOBKL2A	19	2076843	Silent	SNP	G	TCGA-HT-7690-01A-11D-2253-08		2076843	57052140	22	29617											
MATK	4145	broad.mit.edu	37	chr19	3779721	3779721	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgtctcgtccaggaAggcctgggctgtcacatcac	13	14	3	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:3779721A>C	ENST00000310132.6	-	9	1215	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	MATK_ENST00000585778.1_Missense_Mutation_p.F273V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000395045.2_Missense_Mutation_p.F274V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	273	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)		TCGTCCAGGAAGGCCTGGGCT	0.687																																						ENST00000310132.6																			0				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						c.(817-819)Ttc>Gtc		megakaryocyte-associated tyrosine kinase							64	62	62					19																	3779721		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3779721A>C	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.817T>G	19.37:g.3779721A>C	ENSP00000308734:p.Phe273Val					MATK_ENST00000585778.1_Missense_Mutation_p.F273V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000395045.2_Missense_Mutation_p.F274V	p.F273V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1215	-		Hepatocellular(1079;0.137)	273			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.817T>G	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173087	0.57584	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.84730	-1.89;-1.89;-1.89	4.07	4.07	0.47477	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	U	0.000000	D	0.92489	0.7615	M	0.86343	2.81	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.966;1.0	D	0.93517	0.6858	10	0.87932	D	0	-26.6718	12.5364	0.56144	1.0:0.0:0.0:0.0	.	273;274;273	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	V	274;273;232	ENSP00000378485:F274V;ENSP00000308734:F273V;ENSP00000378481:F232V	ENSP00000308734:F273V	F	-	1	0	MATK	3730721	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	8.648000	0.91062	1.629000	0.50426	0.254000	0.18369	TTC		0.687	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		43	63	0	0	0	1	0	43	63					C	3779721	A	C	3779721	3	2	270	1	0	0	0	0	1	0	0	0	9332	72	3	5	730	5	MATK	19	3779721	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	1702878	3779721	55349262	23	29618											
MPND	84954	broad.mit.edu	37	chr19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctctgcaggacatcgacGcacagatggactaccagctg	10	13	1	1	rs61730129	byFrequency	TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:4357346G>A	ENST00000262966.8	+	9	1160	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_ENST00000359935.4_Missense_Mutation_p.A315T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Missense_Mutation_p.A365T	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16087	0.0		0.0	False		,,,				2504	0.0					ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1093-1095)Gca>Aca		MPN domain containing		G	THR/ALA,THR/ALA	17,4019		0,17,2001	22	24	23		943,1093	-4.9	0	19	dbSNP_129	23	1,8365		0,1,4182	yes	missense,missense	MPND	NM_001159846.1,NM_032868.4	58,58	0,18,6183	AA,AG,GG		0.012,0.4212,0.1451	benign,benign	315/452,365/472	4357346	18,12384	2018	4183	6201	SO:0001583	missense	84954						peptidase activity	g.chr19:4357346G>A		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1093G>A	19.37:g.4357346G>A	ENSP00000262966:p.Ala365Thr					MPND_ENST00000262966.8_Missense_Mutation_p.A365T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.A315T	p.A365T			Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1128	+			365			MPN.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.1093G>A	CCDS42470.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	N	0.170	-1.072349	0.01918	0.004212	1.2E-4	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.43294	0.95;0.95	3.67	-4.9	0.03094	.	0.547987	0.18785	N	0.131202	T	0.11196	0.0273	N	0.04669	-0.19	0.09310	N	1	B;B;B	0.29188	0.236;0.137;0.147	B;B;B	0.22753	0.016;0.041;0.029	T	0.36040	-0.9764	10	0.05833	T	0.94	-2.8931	4.9433	0.13976	0.4547:0.0:0.4064:0.1388	.	315;365;365	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	T	365;315	ENSP00000262966:A365T;ENSP00000353015:A315T	ENSP00000262966:A365T	A	+	1	0	MPND	4308346	0.014000	0.17966	0.006000	0.13384	0.254000	0.26022	0.231000	0.17872	-0.982000	0.03515	-0.448000	0.05591	GCA		0.672	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		3	48	0	0	0	1	0	3	48					A	4357346	G	A	4357346	3	1	270	1	0	0	0	0	1	0	0	0	9731	1087	38	1	1127	1	MPND	19	4357346	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	577625	4357346	54771637	24	29619											
TBC1D17	79735	broad.mit.edu	37	chr19	50387777	50387777	+	Frame_Shift_Del	DEL	G	G	-													tacgtcattcagaacgaggtGgatgctttctggtgtttctg							TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:50387777delG	ENST00000221543.5	+	12	1604	c.1305delG	c.(1303-1305)gtgfs	p.V435fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	435	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACGAGGTGGATGCTTTCT	0.597																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1303-1305)gtfs		TBC1 domain family, member 17							191	187	189					19																	50387777		2203	4300	6503	SO:0001589	frameshift_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50387777delG	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1305delG	19.37:g.50387777delG	ENSP00000221543:p.Val435fs					TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	p.V435fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	12	1604	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	435			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Frame_Shift_Del	DEL	ENST00000221543.5	37	c.1305delG	CCDS12785.1																																																																																				0.597	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		40	113						40	113	---	---	---	---	-	50387777	G	-	50387777	7	5	270	1	0	1	0	1	0	0	0	0	15603	1335	47	0	1351	0	TBC1D17	19	50387777	Frame_Shift_Del	DEL	G	TCGA-HT-7690-01A-11D-2253-08	46030431	50387777	8741206	25	29620											
ZNF667	63934	broad.mit.edu	37	chr19	56953384	56953384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatttaaaaggattcTctaaatggtgacttctttgc	7	7	3	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:56953384T>C	ENST00000504904.3	-	7	1699	c.980A>G	c.(979-981)gAg>gGg	p.E327G	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G|ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	327					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAAAGGATTCTCTAAATGGTG	0.373																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(979-981)gAg>gGg		zinc finger protein 667							98	102	101					19																	56953384		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953384T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.980A>G	19.37:g.56953384T>C	ENSP00000439402:p.Glu327Gly					ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G	p.E327G			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1699	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	327					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.980A>G	CCDS12944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.73|12.73	2.024518|2.024518	0.35701|0.35701	.|.	.|.	ENSG00000198046|ENSG00000198046	ENST00000360227|ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	.|T;T;T	.|0.06142	.|3.34;3.39;3.39	4.88|4.88	2.69|2.69	0.31865|0.31865	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.153499	.|0.30311	.|N	.|0.009903	.|T	.|0.10852	.|0.0265	M|M	0.83223|0.83223	2.63|2.63	0.30623|0.30623	N|N	0.758284|0.758284	.|B;B	.|0.33477	.|0.413;0.056	.|B;B	.|0.36186	.|0.219;0.067	.|T	.|0.03443	.|-1.1036	.|10	.|0.72032	.|D	.|0.01	.|-8.4833	6.1944|6.1944	0.20542|0.20542	0.0:0.0882:0.1609:0.7509|0.0:0.0882:0.1609:0.7509	.|.	.|455;327	.|E7EPS0;Q5HYK9	.|.;ZN667_HUMAN	.|G	-1|455;327;327;109	.|ENSP00000344699:E455G;ENSP00000439402:E327G;ENSP00000292069:E327G	.|ENSP00000292069:E327G	.|E	-|-	.|2	.|0	ZNF667|ZNF667	61645196|61645196	1.000000|1.000000	0.71417|0.71417	0.761000|0.761000	0.31378|0.31378	0.754000|0.754000	0.42855|0.42855	3.564000|3.564000	0.53791|0.53791	0.895000|0.895000	0.36342|0.36342	0.383000|0.383000	0.25322|0.25322	.|GAG		0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		8	119	0	0	0	1	0	8	119					C	56953384	T	C	56953384	3	2	270	1	0	0	0	0	1	0	0	0	18071	1551	54	3	856	3	ZNF667	19	56953384	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08	6565607	56953384	2175599	26	29621											
ZNF749	388567	broad.mit.edu	37	chr19	57956845	57956845	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataattcatactggaaaaAggccttagtggagtgaatgc	11	5	1	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:57956845A>G	ENST00000334181.4	+	3	2579	c.2329A>G	c.(2329-2331)Agg>Ggg	p.R777G	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	777					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(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		TACTGGAAAAAGGCCTTAGTG	0.393																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2329-2331)Agg>Ggg		zinc finger protein 749							73	78	76					19																	57956845		2201	4298	6499	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956845A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.2329A>G	19.37:g.57956845A>G	ENSP00000333980:p.Arg777Gly					AC004076.9_ENST00000596831.1_Intron	p.R777G	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2579	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	777						Missense_Mutation	SNP	ENST00000334181.4	37	c.2329A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	8.701	0.909743	0.17833	.	.	ENSG00000186230	ENST00000334181	T	0.01887	4.58	1.52	0.455	0.16649	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04679	0.0127	M	0.87038	2.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28618	-1.0038	9	0.87932	D	0	.	4.9118	0.13825	0.6602:0.0:0.3398:0.0	.	777	O43361	ZN749_HUMAN	G	777	ENSP00000333980:R777G	ENSP00000333980:R777G	R	+	1	2	ZNF749	62648657	0.042000	0.20092	0.001000	0.08648	0.007000	0.05969	1.906000	0.39887	0.067000	0.16545	0.172000	0.16884	AGG		0.393	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		3	97	0	0	0	1	0	3	97					G	57956845	A	G	57956845	3	3	270	1	0	0	0	0	1	0	0	0	18128	63	3	3	2339	3	ZNF749	19	57956845	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	1003461	57956845	1172138	27	29622											
PI3	5266	broad.mit.edu	37	chr20	43804672	43804672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattatcttgatccggtgcGccatgttgaatccccctaac	7	14	1	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:43804672G>C	ENST00000243924.3	+	2	297	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	84	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512																																						ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(250-252)Gcc>Ccc		peptidase inhibitor 3, skin-derived							127	111	117					20																	43804672		2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804672G>C	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"WAP four-disulfide core domain containing"	8947	protein-coding gene	gene with protein product	"skin-derived antileukoproteinase", "trappin-2"	182257	"protease inhibitor 3, skin-derived (SKALP)"			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.250G>C	20.37:g.43804672G>C	ENSP00000243924:p.Ala84Pro						p.A84P	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	297	+		Myeloproliferative disorder(115;0.0122)	84			WAP.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.250G>C	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969213	0.18659	.	.	ENSG00000124102	ENST00000243924	T	0.71817	-0.6	4.23	0.985	0.19779	Whey acidic protein, 4-disulphide core (5);	0.340802	0.21535	N	0.072998	T	0.49660	0.1570	N	0.21324	0.655	0.09310	N	1	B	0.24368	0.102	B	0.30179	0.112	T	0.27938	-1.0059	10	0.27082	T	0.32	.	2.9748	0.05934	0.1042:0.1768:0.537:0.182	.	84	P19957	ELAF_HUMAN	P	84	ENSP00000243924:A84P	ENSP00000243924:A84P	A	+	1	0	PI3	43238086	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.443000	0.06862	0.115000	0.18071	0.650000	0.86243	GCC		0.512	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		29	55	0	0	0	1	0	29	55					C	43804672	G	C	43804672	3	2	270	1	0	0	0	0	1	0	0	0	11870	1087	38	4	256	4	PI3	20	43804672	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		43804672	19220848	28	29623											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044326	51044326	+	Frame_Shift_Del	DEL	C	C	-													tccgtggaggtgccctgccaCcagggcaacggcatcctgtg							TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr22:51044326delC	ENST00000399908.2	+	6	2006	c.1290delC	c.(1288-1290)cacfs	p.H430fs	MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs|MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	696	Necessary for interaction with FGF13.|Pro-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTGCCACCAGGGCAACG	0.682																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1288-1290)cafs		mitogen-activated protein kinase 8 interacting protein 2							14	17	16					22																	51044326		2094	4218	6312	SO:0001589	frameshift_variant	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044326delC	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1290delC	22.37:g.51044326delC	ENSP00000382792:p.His430fs					MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs	p.H430fs	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	2006	+		all_cancers(38;8.8e-15)|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)	696			Pro-rich.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Frame_Shift_Del	DEL	ENST00000399908.2	37	c.1290delC																																																																																					0.682	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		2	4						2	4	---	---	---	---	-	51044326	C	-	51044326	7	5	270	1	0	1	0	1	0	0	0	0	9285	506	18	0	2207	0	MAPK8IP2	22	51044326	Frame_Shift_Del	DEL	C	TCGA-HT-7690-01A-11D-2253-08		51044326	260240	29	29624											
ATRX	546	broad.mit.edu	37	chrX	76849221	76849221	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaagtaccatttTcccagaatgctctaaaacct	5	10	2	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019	Interaction with MECP2.				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						AGTACCATTTTCCCAGAATGC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6055-6057)Aaa>Gaa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						74	70	72					X																	76849221		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849221T>C	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.6055A>G	X.37:g.76849221T>C	ENSP00000362441:p.Lys2019Glu					ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR	p.K2019E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			26	6269	-			2019					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6055A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558756	0.65538	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.96396	-4.0;-4.0	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.98049	0.9357	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.989	D	0.98965	1.0799	10	0.87932	D	0	-13.5885	14.5755	0.68243	0.0:0.0:0.0:1.0	.	1981;2019	P46100-4;P46100	.;ATRX_HUMAN	E	2019;1981	ENSP00000362441:K2019E;ENSP00000378967:K1981E	ENSP00000362441:K2019E	K	-	1	0	ATRX	76735877	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.646000	0.83445	1.823000	0.53134	0.430000	0.28490	AAA		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	9	0	0	0	1	0	44	9					C	76849221	T	C	76849221	3	2	270	1	0	0	0	0	1	0	0	0	1208	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		76849221	78421339	30	29625											
AMOT	154796	broad.mit.edu	37	chrX	112022266	112022266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacttggtatagacaaaCgatgtggtccaggaccggta	11	8	1	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:112022266C>A	ENST00000524145.1	-	11	3190	c.3116G>T	c.(3115-3117)cGt>cTt	p.R1039L	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.R1039L|AMOT_ENST00000371962.1_Missense_Mutation_p.R807L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L			Q4VCS5	AMOT_HUMAN	angiomotin	1039					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						TATAGACAAACGATGTGGTCC	0.488																																						ENST00000371959.3																			0				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						c.(3115-3117)cGt>cTt		angiomotin							146	140	142					X																	112022266		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022266C>A	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.3116G>T	X.37:g.112022266C>A	ENSP00000429013:p.Arg1039Leu					AMOT_ENST00000371962.1_Missense_Mutation_p.R807L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L|AMOT_ENST00000524145.1_Missense_Mutation_p.R1039L	p.R1039L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	3115	-			1039					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.3116G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078947	0.36662	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.25749	1.78;1.83;2.07;1.83	5.14	2.19	0.27852	.	0.223495	0.32608	N	0.005877	T	0.13243	0.0321	N	0.19112	0.55	0.33265	D	0.560281	B	0.28082	0.2	B	0.28465	0.09	T	0.15752	-1.0426	10	0.27785	T	0.31	-1.2035	5.3342	0.15949	0.0:0.5606:0.1517:0.2877	.	1039	Q4VCS5	AMOT_HUMAN	L	630;1039;807;1039	ENSP00000305557:R630L;ENSP00000361027:R1039L;ENSP00000361030:R807L;ENSP00000429013:R1039L	ENSP00000305557:R630L	R	-	2	0	AMOT	111908922	0.997000	0.39634	0.431000	0.26735	0.930000	0.56654	1.011000	0.29911	0.561000	0.29186	0.529000	0.55759	CGT		0.488	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	125	1	0	1	1	1	4	125					A	112022266	C	A	112022266	3	1	270	1	0	0	0	0	1	0	0	0	582	536	19	4	146	4	AMOT	23	112022266	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	35173045	112022266	43248294	31	29626											
ATP11C	286410	broad.mit.edu	37	chrX	138857058	138857058	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccagtgagcacccagacTttcaggcctgctgcatgcag	10	15	1	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:138857058T>C	ENST00000327569.3	-	19	2114	c.2016A>G	c.(2014-2016)aaA>aaG	p.K672K	ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000370557.1_Silent_p.K669K	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	672					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)					GCACCCAGACTTTCAGGCCTG	0.483																																						ENST00000370557.1																			0				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						c.(2005-2007)aaA>aaG		ATPase, class VI, type 11C							107	93	98					X																	138857058		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138857058T>C	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.2016A>G	X.37:g.138857058T>C						ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000327569.3_Silent_p.K672K|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR	p.K669K			Q8NB49	AT11C_HUMAN			19	3034	-	Acute lymphoblastic leukemia(192;0.000127)		672					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.2007A>G	CCDS14668.1																																																																																				0.483	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		5	46	0	0	0	1	0	5	46					C	138857058	T	C	138857058	2	2	270	1	0	0	0	0	0	0	0	1	1121	1606	56	3		3	ATP11C	23	138857058	Silent	SNP	T	TCGA-HT-7690-01A-11D-2253-08	26834792	138857058	16413502	32	29627											
SLC6A17	388662	broad.mit.edu	37	chr1	110740737	110740737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccccaactgggccatgGcactcctgatcaccctcatc	6	17	2	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr1:110740737G>A	ENST00000331565.4	+	12	2340	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	619					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGGCCATGGCACTCCTGAT	0.657																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1855-1857)Gca>Aca		solute carrier family 6 (neutral amino acid transporter), member 17							86	76	79					1																	110740737		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110740737G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1855G>A	1.37:g.110740737G>A	ENSP00000330199:p.Ala619Thr						p.A619T	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2340	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	619					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1855G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383390	0.82792	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74947	-0.89	4.63	4.63	0.57726	.	0.242352	0.40818	N	0.001020	T	0.68988	0.3061	M	0.68728	2.09	0.36989	D	0.894673	B	0.26445	0.149	B	0.39419	0.299	T	0.74494	-0.3647	10	0.62326	D	0.03	.	12.56	0.56275	0.0:0.0:0.8334:0.1666	.	619	Q9H1V8	S6A17_HUMAN	T	619	ENSP00000330199:A619T	ENSP00000330199:A619T	A	+	1	0	SLC6A17	110542260	1.000000	0.71417	0.993000	0.49108	0.860000	0.49131	5.227000	0.65305	2.114000	0.64651	0.455000	0.32223	GCA		0.657	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		3	32	0	0	0	1	0	3	32					A	110740737	G	A	110740737	3	1	271	1	0	0	0	0	1	0	0	0	14680	1203	42	2	1897	2	SLC6A17	1	110740737	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		110740737	138509884	1	29628											
FLNB	2317	broad.mit.edu	37	chr3	58149024	58149024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccctgccctggtgtccGcctatggcacgggactcgaa	13	14	0	0	rs572964946	byFrequency	TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr3:58149024G>A	ENST00000295956.4	+	43	7330	c.7165G>A	c.(7165-7167)Gcc>Acc	p.A2389T	FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB-AS1_ENST00000472922.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T|FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2389	Interaction with INPPL1.				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)	p.A2389T(1)		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)		CCTGGTGTCCGCCTATGGCAC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18702	0.0		0.0	False		,,,				2504	0.002					ENST00000295956.4																			1	Substitution - Missense(1)	p.A2389T(1)	large_intestine(1)	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						c.(7165-7167)Gcc>Acc		filamin B, beta							70	63	65					3																	58149024		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58149024G>A	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.7165G>A	3.37:g.58149024G>A	ENSP00000295956:p.Ala2389Thr					FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T	p.A2389T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	43	7330	+			2389			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7165G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214689	0.79352	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.095107	0.64402	D	0.000001	D	0.95030	0.8391	H	0.94620	3.56	0.80722	D	1	P;D;P;P;P;P	0.62365	0.605;0.991;0.606;0.73;0.846;0.83	B;P;B;B;B;B	0.60473	0.27;0.875;0.355;0.404;0.311;0.39	D	0.96165	0.9118	10	0.87932	D	0	.	19.2174	0.93783	0.0:0.0:1.0:0.0	.	2365;2420;2196;2209;2378;2389	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	2389;2420;2365;2378;2348;2196;2209	ENSP00000295956:A2389T;ENSP00000420213:A2420T;ENSP00000351339:A2365T;ENSP00000415599:A2378T;ENSP00000232447:A2348T;ENSP00000418510:A2196T;ENSP00000414532:A2209T	ENSP00000295956:A2389T	A	+	1	0	FLNB	58124064	1.000000	0.71417	0.942000	0.38095	0.373000	0.29922	9.869000	0.99810	2.602000	0.87976	0.655000	0.94253	GCC		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		3	66	0	0	0	1	0	3	66					A	58149024	G	A	58149024	3	1	271	1	0	0	0	0	1	0	0	0	5934	1087	38	1	7432	1	FLNB	3	58149024	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		58149024	139873406	2	29629											
PCDHB10	56126	broad.mit.edu	37	chr5	140572688	140572688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattagtggcggtgatgaagGcatgatatatccagagctag	13	6	0	4			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr5:140572688G>T	ENST00000239446.4	+	1	747	c.563G>T	c.(562-564)gGc>gTc	p.G188V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	188	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)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGATGAAGGCATGATATAT	0.498																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(562-564)gGc>gTc									116	137	129					5																	140572688		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572688G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.563G>T	5.37:g.140572688G>T	ENSP00000239446:p.Gly188Val						p.G188V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	747	+			188			Cadherin 2.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.563G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046514	0.55110	.	.	ENSG00000120324	ENST00000239446	T	0.04502	3.61	3.52	2.64	0.31445	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28400	0.0702	H	0.95470	3.675	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.28713	-1.0035	9	0.87932	D	0	.	10.8847	0.46960	0.0956:0.0:0.9044:0.0	.	188	Q9UN67	PCDBA_HUMAN	V	188	ENSP00000239446:G188V	ENSP00000239446:G188V	G	+	2	0	PCDHB10	140552872	0.990000	0.36364	0.605000	0.28930	0.774000	0.43823	2.439000	0.44846	0.831000	0.34780	0.556000	0.70494	GGC		0.498	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		53	137	1	0	3.10202e-16	1	3.47426e-16	53	137					T	140572688	G	T	140572688	3	4	271	1	0	0	0	0	1	0	0	0	11535	1203	42	4	565	4	PCDHB10	5	140572688	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		140572688	40342572	3	29630											
KLC4	89953	broad.mit.edu	37	chr6	43042382	43042382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggggcctcagtgccaGcaccatggacctctcttcaa	9	17	3	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr6:43042382G>A	ENST00000394056.2	+	17	2327	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	KLC4_ENST00000259708.3_Missense_Mutation_p.S629N|PTK7_ENST00000481273.1_5'Flank|PTK7_ENST00000345201.2_5'Flank|KLC4_ENST00000453940.2_Missense_Mutation_p.S534N|KLC4_ENST00000479388.1_Missense_Mutation_p.S611N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.S611N|PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.S611N|PTK7_ENST00000471863.1_5'Flank|PTK7_ENST00000352931.2_5'Flank|PTK7_ENST00000349241.2_5'Flank|PTK7_ENST00000230419.4_5'Flank			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	611						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)			CTCAGTGCCAGCACCATGGAC	0.617																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1831-1833)aGc>aAc		kinesin light chain 4							116	103	107					6																	43042382		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43042382G>A	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.1832G>A	6.37:g.43042382G>A	ENSP00000377620:p.Ser611Asn					KLC4_ENST00000347162.5_Missense_Mutation_p.S611N|KLC4_ENST00000479388.1_Missense_Mutation_p.S611N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000259708.3_Missense_Mutation_p.S629N|KLC4_ENST00000453940.2_Missense_Mutation_p.S534N|KLC4_ENST00000394058.1_Missense_Mutation_p.S611N	p.S611N			Q9NSK0	KLC4_HUMAN	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)		17	2327	+			611					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.1832G>A	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582681	0.46006	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.85861	-1.93;-2.04;-1.97;-1.93;-1.93;-1.93	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.89757	0.6807	M	0.68593	2.085	0.54753	D	0.999985	D;D;D	0.61080	0.967;0.989;0.967	P;D;P	0.72982	0.827;0.979;0.827	D	0.89761	0.3947	10	0.52906	T	0.07	-21.9621	16.1531	0.81636	0.0:0.0:1.0:0.0	.	534;629;611	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	N	611;534;629;611;611;611	ENSP00000340221:S611N;ENSP00000395806:S534N;ENSP00000259708:S629N;ENSP00000418031:S611N;ENSP00000377620:S611N;ENSP00000377622:S611N	ENSP00000259708:S629N	S	+	2	0	KLC4	43150360	1.000000	0.71417	0.998000	0.56505	0.322000	0.28314	7.834000	0.86773	2.549000	0.85964	0.462000	0.41574	AGC		0.617	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		3	84	0	0	0	1	0	3	84					A	43042382	G	A	43042382	3	1	271	1	0	0	0	0	1	0	0	0	8336	971	34	2	2017	2	KLC4	6	43042382	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		43042382	128072685	4	29631											
C7orf27	221927	broad.mit.edu	37	chr7	2583295	2583295	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctctccagcagacaggcCacgcggggactcagccgcac	11	17	3	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr7:2583295C>A	ENST00000340611.4	-	5	988	c.732G>T	c.(730-732)gtG>gtT	p.V244V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	244					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCAGACAGGCCACGCGGGGAC	0.701																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(730-732)gtG>gtT		BRCA1-associated ATM activator 1							31	39	37					7																	2583295		2203	4296	6499	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583295C>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.732G>T	7.37:g.2583295C>A							p.V244V	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			5	988	-			244					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.732G>T	CCDS5334.1																																																																																				0.701	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		7	63	1	0	3.09899e-07	1	3.33737e-07	7	63					A	2583295	C	A	2583295	2	1	271	1	0	0	0	0	0	0	0	1	2382	581	21	4		4	C7orf27	7	2583295	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		2583295	156555368	5	29632											
TAF5	6877	broad.mit.edu	37	chr10	105145230	105145230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattattttgtgtcagggggCcatgaccgagtagctcggta	13	7	1	1	rs145434074		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr10:105145230C>T	ENST00000369839.3	+	8	1835	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	604					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)		TGTCAGGGGGCCATGACCGAG	0.413																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1810-1812)ggC>ggT		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa		C		1,4405	2.1+/-5.4	0,1,2202	72	63	66		1812	0.9	1	10	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	TAF5	NM_006951.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		604/801	105145230	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105145230C>T	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.1812C>T	10.37:g.105145230C>T						TAF5_ENST00000351396.4_Intron	p.G604G	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	8	1835	+		Colorectal(252;0.0747)|Breast(234;0.128)	604					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.1812C>T	CCDS7547.1																																																																																				0.413	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			3	36	0	0	0	1	0	3	36					T	105145230	C	T	105145230	2	4	271	1	0	0	0	0	0	0	0	1	15525	726	26	2		2	TAF5	10	105145230	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		105145230	30389517	6	29633											
MTL5	9633	broad.mit.edu	37	chr11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-													gctccccgccgtcgctgtcgCcccccgcgagcttcgccttg							TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:68517872delC	ENST00000255087.5	-	2	440	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_ENST00000443940.2_Frame_Shift_Del_p.G86fs|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(256-258)gcfs		metallothionein-like 5, testis-specific (tesmin)							8	8	8					11																	68517872		2153	4189	6342	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517872delC	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.257delG	11.37:g.68517872delC	ENSP00000255087:p.Gly86fs					MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs|MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs	p.G86fs			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	343	-	Esophageal squamous(3;4.37e-12)		86					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.257delG	CCDS8184.1																																																																																				0.751	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		2	4						2	4	---	---	---	---	-	68517872	C	-	68517872	7	5	271	1	0	1	0	1	0	0	0	0	9936	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-HT-7691-01A-11D-2253-08		68517872	66488644	7	29634											
RELT	84957	broad.mit.edu	37	chr11	73101914	73101914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttggaggaggctggagGcccaggtgggcatggcaact	18	9	0	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:73101914G>A	ENST00000064780.2	+	4	496	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	RELT_ENST00000393580.2_Missense_Mutation_p.A79T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	79						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGGCTGGAGGCCCAGGTGGG	0.652																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(235-237)Gcc>Acc		RELT tumor necrosis factor receptor							46	49	48					11																	73101914		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101914G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.235G>A	11.37:g.73101914G>A	ENSP00000064780:p.Ala79Thr					RELT_ENST00000393580.2_Missense_Mutation_p.A79T	p.A79T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			4	496	+			79					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.235G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898268	0.52227	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	T;T;T	0.81078	-0.97;-1.45;-0.97	5.31	5.31	0.75309	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.616410	0.16811	N	0.198544	T	0.79191	0.4404	M	0.64997	1.995	0.30841	N	0.735632	B	0.16802	0.019	B	0.18871	0.023	T	0.76375	-0.2982	10	0.48119	T	0.1	-4.7681	14.8893	0.70594	0.0:0.0:1.0:0.0	.	79	Q969Z4	TR19L_HUMAN	T	79	ENSP00000064780:A79T;ENSP00000439352:A79T;ENSP00000377207:A79T	ENSP00000064780:A79T	A	+	1	0	RELT	72779562	0.252000	0.23972	0.999000	0.59377	0.588000	0.36517	1.322000	0.33689	2.652000	0.90054	0.638000	0.83543	GCC		0.652	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		3	74	0	0	0	1	0	3	74					A	73101914	G	A	73101914	3	1	271	1	0	0	0	0	1	0	0	0	13221	1203	42	2	245	2	RELT	11	73101914	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	4584042	73101914	61904602	8	29635											
B4GALNT1	2583	broad.mit.edu	37	chr12	58025769	58025769	+	Frame_Shift_Del	DEL	G	G	-													ggagcaagatctggcagctcGggcctgcgggggctttgcgg							TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr12:58025769delG	ENST00000341156.4	-	2	731	c.147delC	c.(145-147)cccfs	p.P49fs	B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.P49fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	49					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGCAGCTCGGGCCTGCGGG	0.726																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(145-147)ccfs		beta-1,4-N-acetyl-galactosaminyl transferase 1							7	7	7					12																	58025769		2177	4231	6408	SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025769delG	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.147delC	12.37:g.58025769delG	ENSP00000341562:p.Pro49fs					B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.P49fs	p.P49fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		2	731	-	Melanoma(17;0.122)		49					B4DE26|Q8N636	Frame_Shift_Del	DEL	ENST00000341156.4	37	c.147delC	CCDS8950.1																																																																																				0.726	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		2	4						2	4	---	---	---	---	-	58025769	G	-	58025769	7	5	271	1	0	1	0	1	0	0	0	0	1266	1103	39	0	1494	0	B4GALNT1	12	58025769	Frame_Shift_Del	DEL	G	TCGA-HT-7691-01A-11D-2253-08		58025769	75826126	9	29636											
SACS	26278	broad.mit.edu	37	chr13	23908606	23908606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcatctttaaaacaataatCaactaaaagttttaaactat	2	6	2	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr13:23908606C>T	ENST00000382292.3	-	9	9682	c.9409G>A	c.(9409-9411)Gat>Aat	p.D3137N	SACS_ENST00000402364.1_Missense_Mutation_p.D2387N|SACS_ENST00000382298.3_Missense_Mutation_p.D3137N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3137					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)		AAACAATAATCAACTAAAAGT	0.373																																						ENST00000382298.3																			0				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						c.(9409-9411)Gat>Aat		spastic ataxia of Charlevoix-Saguenay (sacsin)							31	33	32					13																	23908606		2201	4294	6495	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908606C>T	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.9409G>A	13.37:g.23908606C>T	ENSP00000371729:p.Asp3137Asn					SACS_ENST00000382292.3_Missense_Mutation_p.D3137N|SACS_ENST00000402364.1_Missense_Mutation_p.D2387N	p.D3137N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9997	-		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)	3137					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9409G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472705	0.84640	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86562	-2.0;-2.14;-2.0	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.27053	0.805	0.51233	D	0.999915	D	0.71674	0.998	D	0.68621	0.959	D	0.90260	0.4300	10	0.56958	D	0.05	.	19.9379	0.97147	0.0:1.0:0.0:0.0	.	3137	Q9NZJ4	SACS_HUMAN	N	3137;2387;3137	ENSP00000371729:D3137N;ENSP00000385844:D2387N;ENSP00000371735:D3137N	ENSP00000371729:D3137N	D	-	1	0	SACS	22806606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.710000	0.92621	0.555000	0.69702	GAT		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		11	19	0	0	0	1	0	11	19					T	23908606	C	T	23908606	3	4	271	1	0	0	0	0	1	0	0	0	13804	826	29	2	4334	2	SACS	13	23908606	Missense_Mutation	SNP	C	TCGA-HT-7691-01A-11D-2253-08		23908606	91261272	10	29637											
HCN4	10021	broad.mit.edu	37	chr15	73615170	73615170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcagggctggctgagaCgcggagatgagcttgaggtc	19	7	0	5			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr15:73615170C>T	ENST00000261917.3	-	8	4257	c.3264G>A	c.(3262-3264)gcG>gcA	p.A1088A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1088					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)		CTGGCTGAGACGCGGAGATGA	0.726																																						ENST00000261917.3																			0				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						c.(3262-3264)gcG>gcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							8	12	10					15																	73615170		2144	4218	6362	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615170C>T	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.3264G>A	15.37:g.73615170C>T							p.A1088A	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4257	-			1088					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.3264G>A	CCDS10248.1																																																																																				0.726	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		4	3	0	0	0	1	0	4	3					T	73615170	C	T	73615170	2	4	271	1	0	0	0	0	0	0	0	1	6999	523	19	1		1	HCN4	15	73615170	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		73615170	28916222	11	29638											
FBXL16	146330	broad.mit.edu	37	chr16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-													gggtgggtgggggtggtggcTggcaggggcggttcttggtg							TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W|FBXL16_ENST00000562563.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(139-144)tgg>tg		F-box and leucine-rich repeat protein 16																																				SO:0001651	inframe_deletion	146330							g.chr16:747263_747265delTGG	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.141_143delCCA	16.37:g.747263_747265delTGG	ENSP00000380746:p.Cys47_Gln48delinsTrp					FBXL16_ENST00000324361.5_In_Frame_Del_p.CQ47del	p.CQ47del	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN			2	472_474	-		Hepatocellular(780;0.0218)	47			Pro-rich.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	In_Frame_Del	DEL	ENST00000397621.1	37	c.141_143delCCA	CCDS10421.1																																																																																				0.729	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		2	4						2	4	---	---	---	---	-	747265	TGG	-	747263	7	5	271	1	0	1	0	1	0	0	0	0	5712	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-HT-7691-01A-11D-2253-08		747263	89607490	12	29639											
CTNS	1497	broad.mit.edu	37	chr17	3560060	3560060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcggttgtcctcacgctgAtcatcatcgtgcagtgctgc	11	13	3	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:3560060A>G	ENST00000046640.3	+	9	1245	c.652A>G	c.(652-654)Atc>Gtc	p.I218V	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Missense_Mutation_p.I110V|CTNS_ENST00000381870.3_Missense_Mutation_p.I218V|CTNS_ENST00000414524.2_Missense_Mutation_p.I71V	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	218					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CCTCACGCTGATCATCATCGT	0.592																																						ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(652-654)Atc>Gtc		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)						121	96	105					17																	3560060		2203	4300	6503	SO:0001583	missense	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3560060A>G	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.652A>G	17.37:g.3560060A>G	ENSP00000046640:p.Ile218Val					CTNS_ENST00000441220.2_Missense_Mutation_p.I110V|CTNS_ENST00000414524.2_Missense_Mutation_p.I71V|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000381870.3_Missense_Mutation_p.I218V	p.I218V	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	9	1245	+			218					D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	c.652A>G	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	a	5.117	0.207271	0.09704	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.96685	-3.62;-3.66;-4.09;-3.91	4.92	3.91	0.45181	.	0.192581	0.45606	N	0.000359	D	0.85678	0.5752	N	0.04787	-0.16	0.35227	D	0.776554	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.77667	-0.2502	10	0.06365	T	0.9	-11.1631	2.9994	0.06009	0.3624:0.2739:0.3637:0.0	.	110;218;218	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	V	218;218;110;71	ENSP00000046640:I218V;ENSP00000371294:I218V;ENSP00000411465:I110V;ENSP00000395471:I71V	ENSP00000046640:I218V	I	+	1	0	CTNS	3506809	0.965000	0.33210	0.963000	0.40424	0.374000	0.29953	0.139000	0.16036	1.036000	0.39998	0.398000	0.26397	ATC		0.592	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		24	80	0	0	0	1	0	24	80					G	3560060	A	G	3560060	3	3	271	1	0	0	0	0	1	0	0	0	4021	333	12	3	678	3	CTNS	17	3560060	Missense_Mutation	SNP	A	TCGA-HT-7691-01A-11D-2253-08		3560060	77635150	13	29640											
TMC6	11322	broad.mit.edu	37	chr17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccatgatgaaggccaccaGcagcagcagcaggagggcat	14	12	0	2			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:76120700G>C	ENST00000590602.1	-	8	955	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V|TMC6_ENST00000392467.3_Missense_Mutation_p.L266V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874). {ECO:0000305}.	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)			AAGGCCACCAGCAGCAGCAGC	0.672																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(796-798)Ctg>Gtg		transmembrane channel-like 6							19	19	19					17																	76120700		2183	4244	6427	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120700G>C	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.796C>G	17.37:g.76120700G>C	ENSP00000465261:p.Leu266Val					TMC6_ENST00000392467.3_Missense_Mutation_p.L266V|TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V	p.L266V			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	955	-			266	L -> P (in Ref. 2; AAP69874).				O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.796C>G	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650996	0.29336	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.54279	0.58;0.58;0.58	3.64	1.38	0.22167	.	1.022600	0.07798	N	0.955959	T	0.53498	0.1800	L	0.53249	1.67	0.33038	D	0.531028	P;D;D;D;B	0.58268	0.713;0.981;0.981;0.982;0.23	B;P;P;P;B	0.57101	0.246;0.813;0.761;0.664;0.082	T	0.56974	-0.7890	10	0.06891	T	0.86	-10.1151	4.5808	0.12257	0.211:0.184:0.605:0.0	.	103;266;39;266;266	B4E003;Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;.;TMC6_HUMAN	V	266	ENSP00000313408:L266V;ENSP00000376260:L266V;ENSP00000306405:L266V	ENSP00000306405:L266V	L	-	1	2	TMC6	73632295	0.228000	0.23718	0.981000	0.43875	0.146000	0.21551	0.651000	0.24873	0.497000	0.27926	0.462000	0.41574	CTG		0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			2	16	0	0	0	1	0	2	16					C	76120700	G	C	76120700	3	2	271	1	0	0	0	0	1	0	0	0	15986	962	34	4	1673	4	TMC6	17	76120700	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	72560640	76120700	5074510	14	29641											
IL12RB1	3594	broad.mit.edu	37	chr19	18183118	18183118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtgacctccgtgccaggCgccagcccttgacagccttc	10	16	0	2	rs141737618		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:18183118C>T	ENST00000600835.2	-	10	1123	c.825G>A	c.(823-825)gcG>gcA	p.A275A	IL12RB1_ENST00000322153.7_Silent_p.A275A|IL12RB1_ENST00000593993.2_Silent_p.A275A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	275	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|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)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTGCCAGGCGCCAGCCCTT	0.587																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(823-825)gcG>gcA		interleukin 12 receptor, beta 1		C	,	0,4406		0,0,2203	57	48	51		825,825	-5	0	19	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL12RB1	NM_005535.1,NM_153701.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	275/663,275/382	18183118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18183118C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.825G>A	19.37:g.18183118C>T						IL12RB1_ENST00000593993.1_Silent_p.A275A|IL12RB1_ENST00000322153.6_Silent_p.A275A|IL12RB1_ENST00000430026.2_Silent_p.A275A	p.A275A			P42701	I12R1_HUMAN			10	1128	-			275			Fibronectin type-III 3.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.825G>A	CCDS54232.1																																																																																				0.587	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			9	19	0	0	0	1	0	9	19					T	18183118	C	T	18183118	2	4	271	1	0	0	0	0	0	0	0	1	7626	755	27	1		1	IL12RB1	19	18183118	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		18183118	40945865	15	29642											
MCAT	27349	broad.mit.edu	37	chr22	43529209	43529209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgggggaaccccctgcccTttttcctttcgtatatggca	9	12	0	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr22:43529209T>C	ENST00000290429.6	-	4	1058	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	338					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCCCCTGCCCTTTTTCCTTTC	0.587																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1012-1014)aAg>aGg		malonyl CoA:ACP acyltransferase (mitochondrial)							139	141	141					22																	43529209		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529209T>C	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1013A>G	22.37:g.43529209T>C	ENSP00000290429:p.Lys338Arg					MCAT_ENST00000327555.5_3'UTR	p.K338R	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1058	-		Ovarian(80;0.0694)	338					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.1013A>G	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	T	4.035	0.004129	0.07866	.	.	ENSG00000100294	ENST00000290429	T	0.47177	0.85	5.46	2.22	0.28083	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase domain (1);	0.228467	0.45126	D	0.000387	T	0.36248	0.0960	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22312	-1.0220	10	0.22109	T	0.4	-20.3472	9.4072	0.38469	0.0:0.1946:0.0:0.8054	.	338	Q8IVS2	FABD_HUMAN	R	338	ENSP00000290429:K338R	ENSP00000290429:K338R	K	-	2	0	MCAT	41859153	0.463000	0.25799	0.001000	0.08648	0.042000	0.13812	1.314000	0.33597	0.074000	0.16767	-0.254000	0.11334	AAG		0.587	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		4	223	0	0	0	1	0	4	223					C	43529209	T	C	43529209	3	2	271	1	0	0	0	0	1	0	0	0	9372	1609	56	3	163	3	MCAT	22	43529209	Missense_Mutation	SNP	T	TCGA-HT-7691-01A-11D-2253-08		43529209	7775357	16	29643											
FOXR2	139628	broad.mit.edu	37	chrX	55650390	55650390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatctgtggatgtgggtGgaccccaatatcctgtgccc	11	13	1	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:55650390G>A	ENST00000339140.3	+	1	558	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	82					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						GGATGTGGGTGGACCCCAATA	0.552																																						ENST00000339140.3																			0				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						c.(244-246)gtG>gtA		forkhead box R2							68	62	64					X																	55650390		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650390G>A	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.246G>A	X.37:g.55650390G>A							p.V82V	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	558	+			82						Silent	SNP	ENST00000339140.3	37	c.246G>A	CCDS35308.1																																																																																				0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		3	58	0	0	0	1	0	3	58					A	55650390	G	A	55650390	2	1	271	1	0	0	0	0	0	0	0	1	6032	1335	47	2		2	FOXR2	23	55650390	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08		55650390	99620170	17	29644											
BRWD3	254065	broad.mit.edu	37	chrX	79932312	79932312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgtcctgaaaacatGgtatcaaattcatcatctgc	6	10	4	2			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:79932312G>A	ENST00000373275.4	-	41	5421	c.5205C>T	c.(5203-5205)acC>acT	p.T1735T	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1735					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						CTGAAAACATGGTATCAAATT	0.443																																						ENST00000373275.4																			0				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						c.(5203-5205)acC>acT		bromodomain and WD repeat domain containing 3							146	113	124					X																	79932312		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79932312G>A		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.5205C>T	X.37:g.79932312G>A							p.T1735T	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5421	-			1735					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.5205C>T	CCDS14447.1																																																																																				0.443	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	86	0	0	0	1	0	5	86					A	79932312	G	A	79932312	2	1	271	1	0	0	0	0	0	0	0	1	1526	1335	47	2		2	BRWD3	23	79932312	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08	24281922	79932312	75338248	18	29645											
NES	10763	broad.mit.edu	37	chr1	156642351	156642351	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagagacttcagggtttcTttttccaaaggaacctggga	10	10	2	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:156642351T>C	ENST00000368223.3	-	4	1761	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	543	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGGTTTCTTTTTCCAAAG	0.468																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1627-1629)aaA>aaG		nestin							65	69	68					1																	156642351		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642351T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1629A>G	1.37:g.156642351T>C							p.K543K	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1761	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		543			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1629A>G	CCDS1151.1																																																																																				0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	38	0	0	0	1	0	5	38					C	156642351	T	C	156642351	2	2	272	1	0	0	0	0	0	0	0	1	10337	1606	56	3		3	NES	1	156642351	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		156642351	92608270	1	29646											
HMCN1	83872	broad.mit.edu	37	chr1	185964003	185964003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtccaagttggtcaaagaGtggatattccatgtaatgct	10	6	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:185964003G>T	ENST00000271588.4	+	24	3791	c.3562G>T	c.(3562-3564)Gtg>Ttg	p.V1188L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1188	Ig-like C2-type 9.				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						TGGTCAAAGAGTGGATATTCC	0.413																																						ENST00000271588.4																			0				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						c.(3562-3564)Gtg>Ttg		hemicentin 1							135	128	131					1																	185964003		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185964003G>T	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.3562G>T	1.37:g.185964003G>T	ENSP00000271588:p.Val1188Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			24	3791	+			1188			Ig-like C2-type 9.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3562G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847145	0.32606	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.33216	1.42;1.42	5.35	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.472749	0.23720	N	0.045228	T	0.21674	0.0522	L	0.28504	0.86	0.35551	D	0.803899	B	0.24618	0.107	B	0.33454	0.164	T	0.17137	-1.0379	10	0.10636	T	0.68	.	8.5355	0.33360	0.08:0.0:0.7709:0.1491	.	1188	Q96RW7	HMCN1_HUMAN	L	1188	ENSP00000271588:V1188L;ENSP00000356462:V1188L	ENSP00000271588:V1188L	V	+	1	0	HMCN1	184230626	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	1.812000	0.38952	1.314000	0.45095	0.650000	0.86243	GTG		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	83	1	0	0.014758	1	0.014758	5	83					T	185964003	G	T	185964003	3	4	272	1	0	0	0	0	1	0	0	0	7220	1029	36	4	3656	4	HMCN1	1	185964003	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	29321652	185964003	63286618	2	29647											
OR2C3	81472	broad.mit.edu	37	chr1	247695072	247695072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtaaaacagagacaccaCagccacgtgggaagaacagg	11	12	0	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:247695072C>T	ENST00000366487.3	-	2	1103	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	248						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)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGACACCACAGCCACGTGG	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(742-744)Gtg>Atg		olfactory receptor, family 2, subfamily C, member 3							130	118	122					1																	247695072		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695072C>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.742G>A	1.37:g.247695072C>T	ENSP00000355443:p.Val248Met					GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron	p.V248M	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1103	-	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;0.0242)	248					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.742G>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621065	0.28889	.	.	ENSG00000196242	ENST00000366487	T	0.00277	8.34	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.280692	0.18424	U	0.141660	T	0.00998	0.0033	H	0.94964	3.605	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.16188	-1.0411	10	0.87932	D	0	.	13.4629	0.61237	0.0:1.0:0.0:0.0	.	248	Q8N628	OR2C3_HUMAN	M	248	ENSP00000355443:V248M	ENSP00000355443:V248M	V	-	1	0	OR2C3	245761695	0.170000	0.23016	0.034000	0.17996	0.103000	0.19146	1.594000	0.36697	2.074000	0.62210	0.650000	0.86243	GTG		0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		39	78	0	0	0	1	0	39	78					T	247695072	C	T	247695072	3	4	272	1	0	0	0	0	1	0	0	0	10993	478	17	2	224	2	OR2C3	1	247695072	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	61731069	247695072	1555549	3	29648											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	52	0	0	0	1	0	16	52					T	209113112	C	T	209113112	3	4	272	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		209113112	34086261	4	29649											
SLC25A38	54977	broad.mit.edu	37	chr3	39432956	39432956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagatgtgtccctggcGttggaatctactttggcact	12	8	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:39432956G>A	ENST00000273158.4	+	4	678	c.301G>A	c.(301-303)Gtt>Att	p.V101I		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTCCCTGGCGTTGGAATCTA	0.488																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(301-303)Gtt>Att		solute carrier family 25, member 38							325	352	343					3																	39432956		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39432956G>A	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.301G>A	3.37:g.39432956G>A	ENSP00000273158:p.Val101Ile						p.V101I	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	678	+			101						Missense_Mutation	SNP	ENST00000273158.4	37	c.301G>A	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.482707	0.44147	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.79247	-1.25;-1.17	5.17	1.08	0.20341	Mitochondrial carrier domain (2);	0.177675	0.49916	N	0.000138	T	0.72795	0.3505	M	0.69523	2.12	0.41935	D	0.990589	B	0.21753	0.06	B	0.26770	0.073	T	0.63225	-0.6685	10	0.40728	T	0.16	-4.4575	8.0448	0.30542	0.3906:0.0:0.6094:0.0	.	101	Q96DW6	S2538_HUMAN	I	101;97	ENSP00000273158:V101I;ENSP00000394244:V97I	ENSP00000273158:V101I	V	+	1	0	SLC25A38	39407960	1.000000	0.71417	0.028000	0.17463	0.995000	0.86356	5.001000	0.63946	-0.095000	0.12351	0.655000	0.94253	GTT		0.488	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		9	558	0	0	0	1	0	9	558					A	39432956	G	A	39432956	3	1	272	1	0	0	0	0	1	0	0	0	14502	1145	40	1	315	1	SLC25A38	3	39432956	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		39432956	158589474	5	29650											
PTX3	5806	broad.mit.edu	37	chr3	157154729	157154731	+	In_Frame_Del	DEL	CTC	CTC	-													gcgtctctccagcaatgcatCtccttgcgattctgttttgt							TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:157154729_157154731delCTC	ENST00000295927.3	+	1	152_154	c.7_9delCTC	c.(7-9)ctcdel	p.L4del	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	4					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)			AGCAATGCATCTCCTTGCGATTC	0.493																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.(7-9)del		pentraxin 3, long																																				SO:0001651	inframe_deletion	5806				inflammatory response	extracellular region		g.chr3:157154729_157154731delCTC	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.7_9delCTC	3.37:g.157154729_157154731delCTC	ENSP00000295927:p.Leu4del					VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron	p.L4del	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	152_154	+			4					B2R6T6|Q38M82	In_Frame_Del	DEL	ENST00000295927.3	37	c.7_9delCTC	CCDS3180.1																																																																																				0.493	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		64	97						64	97	---	---	---	---	-	157154731	CTC	-	157154729	7	5	272	1	0	1	0	1	0	0	0	0	12822	913	32	0	9	0	PTX3	3	157154729	In_Frame_Del	DEL	CTC	TCGA-HT-7692-01A-12D-2253-08	117721773	157154729	40867701	6	29651											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	9	7	4	4	rs397517201		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (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.Q546R(30)|p.Q546P(18)|p.Q546L(5)		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)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		53	Substitution - Missense(53)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	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						c.(1636-1638)cAg>cGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61	61	61					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936095A>G		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.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1794	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	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	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	31	0	0	0	1	0	13	31					G	178936095	A	G	178936095	3	3	272	1	0	0	0	0	1	0	0	0	11913	188	7	3	1671	3	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	21781366	178936095	19086335	7	29652											
SH3RF1	57630	broad.mit.edu	37	chr4	170017683	170017690	+	Frame_Shift_Del	DEL	ACAAAGCT	ACAAAGCT	-													agtctcctcatatgttttccAcaaagcttcctgggaaaagg							TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr4:170017683_170017690delACAAAGCT	ENST00000284637.9	-	12	2988_2995	c.2647_2654delAGCTTTGT	c.(2647-2655)agctttgtgfs	p.SFV883fs		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	883	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		TATGTTTTCCACAAAGCTTCCTGGGAAA	0.389																																						ENST00000284637.9																			0				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						c.(2647-2655)gfs		SH3 domain containing ring finger 1																																				SO:0001589	frameshift_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170017683_170017690delACAAAGCT	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.2647_2654delAGCTTTGT	4.37:g.170017683_170017690delACAAAGCT	ENSP00000284637:p.Ser883fs						p.SFV883fs	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	12	2988_2995	-		Prostate(90;0.00267)|Renal(120;0.0183)	883			SH3 4.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Frame_Shift_Del	DEL	ENST00000284637.9	37	c.2647_2654delAGCTTTGT	CCDS34099.1																																																																																				0.389	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		9	77						9	77	---	---	---	---	-	170017690	ACAAAGCT	-	170017683	7	5	272	1	0	1	0	1	0	0	0	0	14258	159	6	0	16	0	SH3RF1	4	170017683	Frame_Shift_Del	DEL	ACAAAGCT	TCGA-HT-7692-01A-12D-2253-08		170017683	21136593	8	29653											
HAVCR2	84868	broad.mit.edu	37	chr5	156535950	156535950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttacttgtaagtagtagCagcagcagcagcaggacaca	11	9	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:156535950C>T	ENST00000307851.4	-	1	775	c.45G>A	c.(43-45)ctG>ctA	p.L15L	HAVCR2_ENST00000517358.1_5'Flank|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L18delL(1)|p.L15L(1)		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)			TAAGTAGTAGCAGCAGCAGCA	0.443																																						ENST00000307851.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.L18delL(1)|p.L15L(1)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(43-45)ctG>ctA		hepatitis A virus cellular receptor 2							135	120	126					5																	156535950		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156535950C>T	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.45G>A	5.37:g.156535950C>T						HAVCR2_ENST00000522593.1_Silent_p.L15L|CTB-120L21.1_ENST00000517708.1_RNA	p.L15L	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	775	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	15					B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.45G>A	CCDS4333.1																																																																																				0.443	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			4	101	0	0	0	1	0	4	101					T	156535950	C	T	156535950	2	4	272	1	0	0	0	0	0	0	0	1	6974	697	25	2		2	HAVCR2	5	156535950	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08		156535950	24379310	9	29654											
BNIP1	662	broad.mit.edu	37	chr5	172587005	172587005	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctcatggggatcagcagGatgatggcccagcaggtcca	14	11	2	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:172587005G>A	ENST00000351486.5	+	5	472	c.441G>A	c.(439-441)agG>agA	p.R147R	BNIP1_ENST00000231668.9_Silent_p.R190R|BNIP1_ENST00000393770.4_Silent_p.R113R|BNIP1_ENST00000352523.6_Silent_p.R156R	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	147					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCAGGATGATGGCCC	0.562																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(568-570)agG>agA		BCL2/adenovirus E1B 19kDa interacting protein 1							167	172	170					5																	172587005		2203	4300	6503	SO:0001819	synonymous_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172587005G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.441G>A	5.37:g.172587005G>A						BNIP1_ENST00000393770.4_Silent_p.R113R|BNIP1_ENST00000352523.6_Silent_p.R156R|BNIP1_ENST00000351486.5_Silent_p.R147R	p.R190R	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		6	674	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	147					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Silent	SNP	ENST00000351486.5	37	c.570G>A	CCDS4384.1																																																																																				0.562	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		84	118	0	0	0	1	0	84	118					A	172587005	G	A	172587005	2	1	272	1	0	0	0	0	0	0	0	1	1476	1165	41	2		2	BNIP1	5	172587005	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08	16051055	172587005	8328255	10	29655											
MAGI2	9863	broad.mit.edu	37	chr7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtcatcatggacgggcGgtggatacgtgccgtctagc	14	10	3	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527																																						ENST00000354212.4																			1	Substitution - Missense(1)	p.P584L(1)	urinary_tract(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1750-1752)cCg>cTg		membrane associated guanylate kinase, WW and PDZ domain containing 2							101	88	92					7																	77885556		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885556G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1751C>T	7.37:g.77885556G>A	ENSP00000346151:p.Pro584Leu					MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L	p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	2004	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	584					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1751C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826926	0.50739	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10860	2.93;2.93;2.83;3.71;3.73	5.85	5.85	0.93711	PDZ/DHR/GLGF (1);	0.000000	0.36374	U	0.002622	T	0.26304	0.0642	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;1.0;1.0	P;P;D;D;D;D	0.91635	0.905;0.8;0.998;0.998;0.999;0.998	T	0.01795	-1.1272	10	0.12103	T	0.63	.	19.1657	0.93557	0.0:0.0:1.0:0.0	.	421;416;584;584;584;584	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	L	584;584;584;584;416;421	ENSP00000405766:P584L;ENSP00000346151:P584L;ENSP00000428389:P584L;ENSP00000441584:P416L;ENSP00000441603:P421L	ENSP00000346151:P584L	P	-	2	0	MAGI2	77723492	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	6.824000	0.75288	2.771000	0.95319	0.561000	0.74099	CCG		0.527	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		3	54	0	0	0	1	0	3	54					A	77885556	G	A	77885556	3	1	272	1	0	0	0	0	1	0	0	0	9191	1116	39	1	2668	1	MAGI2	7	77885556	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		77885556	81253107	11	29656											
BAI1	575	broad.mit.edu	37	chr8	143623472	143623472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctgcacggctcacccCgctatcccggcgggcccctg	11	20	1	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr8:143623472C>T	ENST00000517894.1	+	28	4771	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1293					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCTCACCCCGCTATCCCGG	0.652																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3877-3879)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31	37	35					8																	143623472		2067	4201	6268	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623472C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3877C>T	8.37:g.143623472C>T	ENSP00000430945:p.Arg1293Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C	p.R1293C			O14514	BAI1_HUMAN			28	4771	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1293						Missense_Mutation	SNP	ENST00000517894.1	37	c.3877C>T		.	.	.	.	.	.	.	.	.	.	c	15.36	2.811265	0.50527	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.27402	1.67;1.67	4.26	4.26	0.50523	.	0.274240	0.24917	U	0.034572	T	0.17789	0.0427	N	0.08118	0	0.32217	N	0.575763	D	0.63880	0.993	B	0.41299	0.353	T	0.12041	-1.0563	10	0.44086	T	0.13	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	1293	E9PBK0	.	C	1293	ENSP00000430945:R1293C;ENSP00000313046:R1293C	ENSP00000313046:R1293C	R	+	1	0	BAI1	143620474	0.988000	0.35896	0.873000	0.34254	0.639000	0.38242	2.624000	0.46444	1.910000	0.55303	0.586000	0.80456	CGC		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	32	0	0	0	1	0	3	32					T	143623472	C	T	143623472	3	4	272	1	0	0	0	0	1	0	0	0	1298	652	23	1	3983	1	BAI1	8	143623472	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		143623472	2740550	12	29657											
C9orf79	286234	broad.mit.edu	37	chr9	90501843	90501843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcatcctggaggggtgGgaaagcccacgtgaacacct	15	11	0	1	rs376492433		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr9:90501843G>A	ENST00000325643.5	+	4	2507	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	814					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGAGGGGTGGGAAAGCCCAC	0.572																																						ENST00000325643.5																			0											c.(2440-2442)gGg>gAg		SPATA31 subfamily E, member 1							65	71	69					9																	90501843		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90501843G>A	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.2441G>A	9.37:g.90501843G>A	ENSP00000322640:p.Gly814Glu						p.G814E	NM_178828.4	NP_849150.3					4	2507	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2441G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	7.506	0.653698	0.14580	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03242	4.0	2.32	-4.64	0.03349	.	3.455730	0.00589	N	0.000345	T	0.02767	0.0083	N	0.16743	0.435	0.09310	N	1	P;P	0.51933	0.949;0.571	P;B	0.48952	0.596;0.118	T	0.46219	-0.9207	10	0.05525	T	0.97	.	1.9544	0.03373	0.1981:0.1701:0.4623:0.1694	.	814;466	Q6ZUB1;Q8NA33	CI079_HUMAN;.	E	814;466	ENSP00000322640:G814E	ENSP00000322640:G814E	G	+	2	0	C9orf79	89691663	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.007000	0.13174	-1.786000	0.01269	-0.484000	0.04775	GGG		0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		22	18	0	0	0	1	0	22	18					A	90501843	G	A	90501843	3	1	272	1	0	0	0	0	1	0	0	0	2497	1232	43	2	2455	2	C9orf79	9	90501843	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		90501843	50711588	13	29658											
FBXO18	84893	broad.mit.edu	37	chr10	5979128	5979128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcctgtgcggagcagcGcatcgggcccctggcgttcc	13	17	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:5979128G>A	ENST00000362091.4	+	21	3132	c.3017G>A	c.(3016-3018)cGc>cAc	p.R1006H	FBXO18_ENST00000379999.5_Missense_Mutation_p.R1057H|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H|RP11-536K7.3_ENST00000397264.4_RNA	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1006					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCGGAGCAGCGCATCGGGCCC	0.622																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(3169-3171)cGc>cAc		F-box protein, helicase, 18							37	42	40					10																	5979128		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5979128G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3017G>A	10.37:g.5979128G>A	ENSP00000355415:p.Arg1006His					RP11-536K7.3_ENST00000397264.3_RNA|FBXO18_ENST00000362091.4_Missense_Mutation_p.R1006H|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H	p.R1057H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			22	3274	+			1006					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.3170G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.349907	0.82132	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.24	4.33	0.51752	.	0.109688	0.64402	D	0.000018	T	0.66228	0.2768	L	0.32530	0.975	0.47245	D	0.999363	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.981;0.981	T	0.69771	-0.5055	9	0.72032	D	0.01	-13.8651	14.7741	0.69703	0.0:0.1457:0.8543:0.0	.	1057;1006;932	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	H	510;1006;1057	.	ENSP00000355415:R1006H	R	+	2	0	FBXO18	6019134	1.000000	0.71417	0.402000	0.26371	0.972000	0.66771	5.473000	0.66774	1.187000	0.43000	0.536000	0.68110	CGC		0.622	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		12	27	0	0	0	1	0	12	27					A	5979128	G	A	5979128	3	1	272	1	0	0	0	0	1	0	0	0	5731	1087	38	1	3261	1	FBXO18	10	5979128	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		5979128	129555619	14	29659											
NFKB2	4791	broad.mit.edu	37	chr10	104160083	104160083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacgagtgtggtgagcTttctgctgcgggtaggtgca	18	7	1	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:104160083T>C	ENST00000369966.3	+	16	1883	c.1633T>C	c.(1633-1635)Ttt>Ctt	p.F545L	NFKB2_ENST00000189444.6_Missense_Mutation_p.F545L|NFKB2_ENST00000428099.1_Missense_Mutation_p.F545L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	545					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TGTGGTGAGCTTTCTGCTGCG	0.652			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(1633-1635)Ttt>Ctt		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							65	69	67					10																	104160083		2119	4223	6342	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104160083T>C	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1633T>C	10.37:g.104160083T>C	ENSP00000358983:p.Phe545Leu					NFKB2_ENST00000189444.6_Missense_Mutation_p.F545L|NFKB2_ENST00000428099.1_Missense_Mutation_p.F545L	p.F545L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	16	1883	+		Colorectal(252;0.00957)	545					A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.1633T>C	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	T	6.269	0.417788	0.11870	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.60548	0.18;0.18;0.18	4.51	4.51	0.55191	Ankyrin repeat-containing domain (3);	0.451973	0.25366	N	0.031191	T	0.26919	0.0659	N	0.01668	-0.77	0.30137	N	0.804281	B;B	0.18741	0.03;0.03	B;B	0.28011	0.05;0.085	T	0.25398	-1.0133	10	0.07990	T	0.79	.	9.6274	0.39759	0.0:0.0857:0.0:0.9143	.	545;545	Q00653;A8K9D9	NFKB2_HUMAN;.	L	545	ENSP00000410256:F545L;ENSP00000358983:F545L;ENSP00000189444:F545L	ENSP00000189444:F545L	F	+	1	0	NFKB2	104150073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.073000	0.30691	2.029000	0.59856	0.459000	0.35465	TTT		0.652	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			3	114	0	0	0	1	0	3	114					C	104160083	T	C	104160083	3	2	272	1	0	0	0	0	1	0	0	0	10376	1609	56	3	1691	3	NFKB2	10	104160083	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	98180955	104160083	31374664	15	29660											
FGFR2	2263	broad.mit.edu	37	chr10	123256167	123256167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagtactccatcccgggtGgcctccgggctcggaggtat	15	12	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:123256167G>T	ENST00000358487.5	-	13	2014	c.1742C>A	c.(1741-1743)cCa>cAa	p.P581Q	FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATCCCGGGTGGCCTCCGGGC	0.532		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1741-1743)cCa>cAa		fibroblast growth factor receptor 2	Palifermin(DB00039)						143	141	142					10																	123256167		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256167G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1742C>A	10.37:g.123256167G>T	ENSP00000351276:p.Pro581Gln					FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q	p.P581Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	2014	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	581			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1742C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897567	0.91962	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.28	5.28	0.74379	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	0.93465	0.7915	L	0.45051	1.395	0.80722	D	1	P;P;P;D;D;B;D;D	0.76494	0.877;0.94;0.918;0.994;0.997;0.137;0.999;0.997	P;P;P;D;D;B;D;D	0.69824	0.822;0.907;0.808;0.91;0.927;0.082;0.938;0.966	D	0.94171	0.7423	10	0.87932	D	0	.	18.9702	0.92712	0.0:0.0:1.0:0.0	.	598;580;492;464;581;493;582;484	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	Q	492;582;469;581;464;465;467;173;579;582;579;493;582;582;490	ENSP00000350166:P492Q;ENSP00000358057:P469Q;ENSP00000351276:P581Q;ENSP00000348559:P464Q;ENSP00000358056:P465Q;ENSP00000358055:P467Q;ENSP00000404219:P173Q;ENSP00000263451:P579Q;ENSP00000410294:P582Q;ENSP00000309878:P579Q;ENSP00000353262:P493Q;ENSP00000358052:P582Q;ENSP00000358054:P582Q;ENSP00000337665:P490Q	ENSP00000337665:P490Q	P	-	2	0	FGFR2	123246157	1.000000	0.71417	0.953000	0.39169	0.962000	0.63368	9.743000	0.98849	2.464000	0.83262	0.549000	0.68633	CCA		0.532	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		57	73	1	0	9.16383e-17	1	9.37695e-17	57	73					T	123256167	G	T	123256167	3	4	272	1	0	0	0	0	1	0	0	0	5866	1348	47	4	851	4	FGFR2	10	123256167	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	19096084	123256167	12278580	16	29661											
MUC5B	727897	broad.mit.edu	37	chr11	1270916	1270916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggatccacggccacccCgtcctccaccccgggaacag	9	20	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:1270916C>T	ENST00000529681.1	+	31	12864	c.12806C>T	c.(12805-12807)cCg>cTg	p.P4269L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P4272L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4269	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)		ACGGCCACCCCGTCCTCCACC	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12814-12816)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming							121	141	134					11																	1270916		2093	4190	6283	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270916C>T	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.12806C>T	11.37:g.1270916C>T	ENSP00000436812:p.Pro4269Leu					MUC5B_ENST00000529681.1_Missense_Mutation_p.P4269L	p.P4272L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12873	+		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)	4269			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12815C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.001	0.185957	0.09495	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19532	2.14;2.33	2.59	-1.08	0.09936	.	.	.	.	.	T	0.18882	0.0453	M	0.64404	1.975	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.33420	-0.9869	9	0.87932	D	0	.	4.2221	0.10563	0.1575:0.5137:0.0:0.3288	.	4742;4272	A7Y9J9;E9PBJ0	.;.	L	4269;4272;4213;4119;48	ENSP00000436812:P4269L;ENSP00000415793:P4272L	ENSP00000343037:P4213L	P	+	2	0	MUC5B	1227492	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.482000	0.00981	-0.157000	0.11059	0.064000	0.15345	CCG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		42	162	0	0	0	1	0	42	162					T	1270916	C	T	1270916	3	4	272	1	0	0	0	0	1	0	0	0	9979	652	23	1	12937	1	MUC5B	11	1270916	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		1270916	133735600	17	29662											
SAA4	6291	broad.mit.edu	37	chr11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagatagaccctggaaCggctgcaacccaaagaaagg	11	11	0	4	rs201435531		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	78					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488																																						ENST00000278222.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						c.(232-234)cGt>cAt		serum amyloid A4, constitutive							54	53	53					11																	18253209		2199	4293	6492	SO:0001583	missense	6291							g.chr11:18253209C>T	M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.233G>A	11.37:g.18253209C>T	ENSP00000278222:p.Arg78His					SAA2-SAA4_ENST00000524555.1_RNA	p.R78H	NM_006512.3	NP_006503.2					4	413	-								Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	c.233G>A	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111533	0.20714	.	.	ENSG00000148965	ENST00000278222	T	0.09445	2.98	2.86	0.199	0.15175	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	P	0.47350	0.894	B	0.36567	0.228	T	0.32348	-0.9910	9	0.56958	D	0.05	.	3.0811	0.06262	0.0:0.1712:0.267:0.5617	.	78	P35542	SAA4_HUMAN	H	78	ENSP00000278222:R78H	ENSP00000278222:R78H	R	-	2	0	SAA4	18209785	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.464000	0.21988	-0.093000	0.12396	-0.373000	0.07131	CGT		0.488	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		16	31	0	0	0	1	0	16	31					T	18253209	C	T	18253209	3	4	272	1	0	0	0	0	1	0	0	0	13800	536	19	1	163	1	SAA4	11	18253209	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	16982293	18253209	116753307	18	29663											
OR4A15	81328	broad.mit.edu	37	chr11	55136117	55136118	+	Frame_Shift_Del	DEL	TT	TT	-													tggggtcatattacactctcTtaagactcagagtttggaag							TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:55136117_55136118delTT	ENST00000314706.3	+	1	758_759	c.758_759delTT	c.(757-759)cttfs	p.L253fs		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	253						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(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTACACTCTCTTAAGACTCAGA	0.436																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(757-759)cfs		olfactory receptor, family 4, subfamily A, member 15																																				SO:0001589	frameshift_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136117_55136118delTT	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.758_759delTT	11.37:g.55136117_55136118delTT	ENSP00000325065:p.Leu253fs						p.L253fs	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	758_759	+			253					Q6IFL4|Q96R65	Frame_Shift_Del	DEL	ENST00000314706.3	37	c.758_759delTT	CCDS31500.1																																																																																				0.436	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		7	80						7	80	---	---	---	---	-	55136118	TT	-	55136117	7	5	272	1	0	1	0	1	0	0	0	0	11040	1609	56	0	760	0	OR4A15	11	55136117	Frame_Shift_Del	DEL	TT	TCGA-HT-7692-01A-12D-2253-08	36882908	55136117	79870399	19	29664											
OR5A1	219982	broad.mit.edu	37	chr11	59211422	59211422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgggacagcccttttcGtgtacttgcgacccagctcc	10	13	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:59211422G>A	ENST00000302030.2	+	1	806	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	261						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCCCTTTTCGTGTACTTGCG	0.537																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(781-783)Gtg>Atg		olfactory receptor, family 5, subfamily A, member 1							266	216	233					11																	59211422		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211422G>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.781G>A	11.37:g.59211422G>A	ENSP00000303096:p.Val261Met						p.V261M	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	806	+			261					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.781G>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	0.279	-0.987373	0.02180	.	.	ENSG00000172320	ENST00000302030	T	0.00051	8.81	5.98	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.328676	0.26847	N	0.022182	T	0.00073	0.0002	N	0.11870	0.19	0.18873	N	0.999987	B	0.06786	0.001	B	0.08055	0.003	T	0.28170	-1.0052	10	0.02654	T	1	-14.1546	5.7187	0.17974	0.6697:0.0:0.0703:0.2599	.	261	Q8NGJ0	OR5A1_HUMAN	M	261	ENSP00000303096:V261M	ENSP00000303096:V261M	V	+	1	0	OR5A1	58967998	0.010000	0.17322	1.000000	0.80357	0.857000	0.48899	0.791000	0.26915	0.492000	0.27815	-0.295000	0.09555	GTG		0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		100	144	0	0	0	1	0	100	144					A	59211422	G	A	59211422	3	1	272	1	0	0	0	0	1	0	0	0	11139	1145	40	1	783	1	OR5A1	11	59211422	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4075305	59211422	75795094	20	29665											
SUV420H1	51111	broad.mit.edu	37	chr11	67941292	67941292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttttgttgcaactattTtggctccattttgttctgat	6	8	2	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:67941292T>C	ENST00000304363.4	-	6	985	c.632A>G	c.(631-633)aAa>aGa	p.K211R	SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	211	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAACTATTTTGGCTCCATT	0.299																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(631-633)aAa>aGa		suppressor of variegation 4-20 homolog 1 (Drosophila)							114	105	108					11																	67941292		2198	4293	6491	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67941292T>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.632A>G	11.37:g.67941292T>C	ENSP00000305899:p.Lys211Arg					SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R	p.K211R	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			6	985	-			211			SET.		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.632A>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954599	0.92726	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.33	5.33	0.75918	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	L	0.48260	1.515	0.80722	D	1	D;P;D;D	0.89917	0.992;0.85;0.996;1.0	D;P;D;D	0.87578	0.948;0.775;0.987;0.998	D	0.90193	0.4251	10	0.54805	T	0.06	-34.2585	15.6036	0.76646	0.0:0.0:0.0:1.0	.	188;211;211;211	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	R	211;211;211;211;188;39	ENSP00000305899:K211R;ENSP00000385965:K211R;ENSP00000385640:K211R;ENSP00000385005:K211R;ENSP00000384724:K188R;ENSP00000433589:K39R	ENSP00000305899:K211R	K	-	2	0	SUV420H1	67697868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.256000	0.72473	2.157000	0.67596	0.482000	0.46254	AAA		0.299	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		6	63	0	0	0	1	0	6	63					C	67941292	T	C	67941292	3	2	272	1	0	0	0	0	1	0	0	0	15411	1841	64	3	2057	3	SUV420H1	11	67941292	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	8729870	67941292	67065224	21	29666											
SAPS3	55291	broad.mit.edu	37	chr11	68337357	68337357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactggtgataatttgttaTtaaaacatgtaagcttattt	6	5	0	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:68337357T>C	ENST00000393800.2	+	11	1524	c.1270T>C	c.(1270-1272)Tta>Cta	p.L424L	PPP6R3_ENST00000527403.2_Silent_p.L424L|PPP6R3_ENST00000534534.1_Silent_p.L192L|PPP6R3_ENST00000265636.5_Silent_p.L373L|PPP6R3_ENST00000393799.2_Silent_p.L424L|PPP6R3_ENST00000393801.3_Silent_p.L424L|PPP6R3_ENST00000524904.1_Silent_p.L424L|PPP6R3_ENST00000529710.1_Silent_p.L373L|PPP6R3_ENST00000265637.4_Silent_p.L424L|PPP6R3_ENST00000524845.1_Silent_p.L424L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	424					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAATTTGTTATTAAAACATGT	0.373																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1270-1272)Tta>Cta		protein phosphatase 6, regulatory subunit 3							163	152	156					11																	68337357		2200	4294	6494	SO:0001819	synonymous_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68337357T>C	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1270T>C	11.37:g.68337357T>C						PPP6R3_ENST00000265637.4_Silent_p.L424L|PPP6R3_ENST00000393801.3_Silent_p.L424L|PPP6R3_ENST00000534534.1_Silent_p.L192L|PPP6R3_ENST00000529710.1_Silent_p.L373L|PPP6R3_ENST00000527403.2_Silent_p.L424L|PPP6R3_ENST00000524904.1_Silent_p.L424L|PPP6R3_ENST00000265636.5_Silent_p.L373L|PPP6R3_ENST00000393800.2_Silent_p.L424L|PPP6R3_ENST00000524845.1_Silent_p.L424L	p.L424L			Q5H9R7	PP6R3_HUMAN			11	1537	+			424					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	c.1270T>C	CCDS53672.1																																																																																				0.373	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		64	77	0	0	0	1	0	64	77					C	68337357	T	C	68337357	2	2	272	1	0	0	0	0	0	0	0	1	13838	1490	52	3		3	SAPS3	11	68337357	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08	396065	68337357	66669159	22	29667											
OR10G8	219869	broad.mit.edu	37	chr11	123901193	123901193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccctgttgtgtacacCctgaggaacaaggaggtgaa	11	10	1	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:123901193C>T	ENST00000431524.1	+	1	897	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	288						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TTGTGTACACCCTGAGGAACA	0.468																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(862-864)acC>acT		olfactory receptor, family 10, subfamily G, member 8							111	106	108					11																	123901193		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901193C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.864C>T	11.37:g.123901193C>T							p.T288T	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	897	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	288					B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.864C>T	CCDS31704.1																																																																																				0.468	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	77	0	0	0	1	0	7	77					T	123901193	C	T	123901193	2	4	272	1	0	0	0	0	0	0	0	1	10903	610	22	2		2	OR10G8	11	123901193	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08	55563836	123901193	11105323	23	29668											
NAV3	89795	broad.mit.edu	37	chr12	78591057	78591057	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatatctagctaacctggctGaacagtgcagtgctgataat	9	8	1	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr12:78591057G>A	ENST00000397909.2	+	35	6495	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2108						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						TAACCTGGCTGAACAGTGCAG	0.338										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(6322-6324)Gaa>Aaa		neuron navigator 3							116	106	109					12																	78591057		1844	4089	5933	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78591057G>A	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.6322G>A	12.37:g.78591057G>A	ENSP00000381007:p.Glu2108Lys	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K|NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K	p.E2108K			Q8IVL0	NAV3_HUMAN			35	6495	+			2108					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6322G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.105835	0.94292	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.49	5.49	0.81192	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.40818	U	0.001009	D	0.91068	0.7189	L	0.46947	1.48	0.80722	D	1	D;P;D;P	0.76494	0.961;0.59;0.999;0.925	P;B;D;P	0.74348	0.852;0.158;0.983;0.54	D	0.87856	0.2661	10	0.23302	T	0.38	-23.4767	19.745	0.96248	0.0:0.0:1.0:0.0	.	2086;1909;2108;2086	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	K	2086;2108;2086;1909;700;708	ENSP00000446132:E2086K;ENSP00000381007:E2108K;ENSP00000228327:E2086K;ENSP00000266692:E1909K;ENSP00000448303:E708K	ENSP00000228327:E2086K	E	+	1	0	NAV3	77115188	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.813000	0.99286	2.736000	0.93811	0.655000	0.94253	GAA		0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	43	0	0	0	1	0	3	43					A	78591057	G	A	78591057	3	1	272	1	0	0	0	0	1	0	0	0	10185	1291	45	2	6390	2	NAV3	12	78591057	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		78591057	55260838	24	29669											
DISP2	85455	broad.mit.edu	37	chr15	40656656	40656656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgagtggccagtggccGtgctgatgctgtgtctggct	16	9	1	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr15:40656656G>A	ENST00000267889.3	+	4	601	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	172					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)		GCCAGTGGCCGTGCTGATGCT	0.602																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(514-516)Gtg>Atg		dispatched homolog 2 (Drosophila)							103	91	95					15																	40656656		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40656656G>A	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.514G>A	15.37:g.40656656G>A	ENSP00000267889:p.Val172Met						p.V172M	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		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)	4	601	+		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)	172					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.514G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395813	0.62177	.	.	ENSG00000140323	ENST00000267889	T	0.20881	2.04	5.01	-0.644	0.11479	.	0.380247	0.28470	N	0.015237	T	0.21227	0.0511	M	0.78456	2.415	0.44611	D	0.997584	P	0.43352	0.804	B	0.36959	0.237	T	0.07966	-1.0745	10	0.66056	D	0.02	-1.194	9.0476	0.36356	0.4226:0.0:0.5774:0.0	.	172	A7MBM2	DISP2_HUMAN	M	172	ENSP00000267889:V172M	ENSP00000267889:V172M	V	+	1	0	DISP2	38443948	0.998000	0.40836	0.814000	0.32528	0.956000	0.61745	2.612000	0.46343	-0.252000	0.09528	0.462000	0.41574	GTG		0.602	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		4	139	0	0	0	1	0	4	139					A	40656656	G	A	40656656	3	1	272	1	0	0	0	0	1	0	0	0	4540	1145	40	1	528	1	DISP2	15	40656656	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		40656656	61874736	25	29670											
SHBG	6462	broad.mit.edu	37	chr17	7535330	7535330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtctccacctccaagaTcaagtaaagggggacagtgg	11	11	3	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:7535330T>C	ENST00000380450.4	+	6	880	c.849T>C	c.(847-849)gaT>gaC	p.D283D	SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000572262.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000416273.3_Silent_p.D283D|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	283	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	ACCTCCAAGATCAAGTAAAGG	0.542																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(847-849)gaT>gaC		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						99	103	102					17																	7535330		2203	4300	6503	SO:0001819	synonymous_variant	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7535330T>C		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"androgen binding protein"	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.849T>C	17.37:g.7535330T>C						SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000416273.3_Silent_p.D283D|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Silent_p.D171D	p.D283D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	6	880	+		all_cancers(10;0.0867)	283			Laminin G-like 2.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	c.849T>C	CCDS11117.1																																																																																				0.542	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		21	120	0	0	0	1	0	21	120					C	7535330	T	C	7535330	2	2	272	1	0	0	0	0	0	0	0	1	14269	1432	50	3		3	SHBG	17	7535330	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		7535330	73659880	26	29671											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16852148	16852148	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccgctgtctcctgagctCtggtggaaggttcactgggc	13	12	3	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:16852148C>T	ENST00000261652.2	-	3	361	c.349G>A	c.(349-351)Gag>Aag	p.E117K	TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.E71K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000581616.2_5'UTR	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	117					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCCTGAGCTCTGGTGGAAGG	0.522									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(211-213)Gag>Aag		tumor necrosis factor receptor superfamily, member 13B							202	183	190					17																	16852148		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16852148C>T	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"Tumor necrosis factor receptor superfamily", "CD molecules"	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.349G>A	17.37:g.16852148C>T	ENSP00000261652:p.Glu117Lys					TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K	p.E71K			O14836	TR13B_HUMAN			2	219	-			117					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.211G>A	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577084	0.28092	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93247	-3.19;-3.14	4.96	2.86	0.33363	.	0.835188	0.10440	N	0.674420	D	0.91885	0.7431	M	0.64997	1.995	0.09310	N	1	B;P;P	0.38677	0.267;0.642;0.51	B;B;B	0.38458	0.058;0.274;0.142	T	0.82499	-0.0427	10	0.51188	T	0.08	-9.3972	12.1779	0.54196	0.0:0.6387:0.3613:0.0	.	117;71;117	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	K	71;117	ENSP00000413453:E71K;ENSP00000261652:E117K	ENSP00000261652:E117K	E	-	1	0	TNFRSF13B	16792873	0.008000	0.16893	0.017000	0.16124	0.181000	0.23173	0.785000	0.26830	0.541000	0.28827	0.650000	0.86243	GAG		0.522	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			71	105	0	0	0	1	0	71	105					T	16852148	C	T	16852148	3	4	272	1	0	0	0	0	1	0	0	0	16284	922	32	2	544	2	TNFRSF13B	17	16852148	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	9316818	16852148	64343062	27	29672											
OR7D2	162998	broad.mit.edu	37	chr19	9296887	9296887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccacctctgtggcctcCtggtttttgtcacctggctc	8	17	2	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:9296887C>T	ENST00000344248.2	+	1	609	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	144					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGCCTCCTGGTTTTTGT	0.478																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(430-432)Ctg>Ttg		olfactory receptor, family 7, subfamily D, member 2							147	141	143					19																	9296887		2203	4300	6503	SO:0001819	synonymous_variant	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296887C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.430C>T	19.37:g.9296887C>T							p.L144L	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	609	+			144					Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	c.430C>T	CCDS32900.1																																																																																				0.478	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			19	187	0	0	0	1	0	19	187					T	9296887	C	T	9296887	2	4	272	1	0	0	0	0	0	0	0	1	11219	680	24	2		2	OR7D2	19	9296887	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08		9296887	49832096	28	29673											
FDX1L	112812	broad.mit.edu	37	chr19	10421614	10421614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggaggcttcacaggCccctaggggtgggaagtgaa	18	9	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10421614C>T	ENST00000393708.3	-	4	328	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A104T|ZGLP1_ENST00000403903.3_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	104	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCTTCACAGGCCCCTAGGGGT	0.617																																						ENST00000452032.2																			0											c.(310-312)Gcc>Acc									39	35	36					19																	10421614		2203	4300	6503	SO:0001583	missense	0							g.chr19:10421614C>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.310G>A	19.37:g.10421614C>T	ENSP00000377311:p.Ala104Thr					FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.A104T	p.A104T							4	322	-								Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.310G>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992894	0.74703	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.8	4.8	0.61643	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82084	-0.0632	9	0.66056	D	0.02	-20.803	15.3471	0.74346	0.0:1.0:0.0:0.0	.	104	Q6P4F2	ADXL_HUMAN	T	107;104	.	ENSP00000377311:A104T	A	-	1	0	FDX1L	10282614	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	6.590000	0.74085	2.211000	0.71520	0.561000	0.74099	GCC		0.617	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			8	38	0	0	0	1	0	8	38					T	10421614	C	T	10421614	3	4	272	1	0	0	0	0	1	0	0	0	5805	739	26	2	249	2	FDX1L	19	10421614	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	1124727	10421614	48707369	29	29674											
SLC4A11	83959	broad.mit.edu	37	chr20	3209830	3209830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgaggcccatggcaccGctgacggccctcagggacag	14	15	1	1	rs533752647		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:3209830G>A	ENST00000380056.3	-	15	2024	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	SLC4A11_ENST00000380059.3_Silent_p.S686S|SLC4A11_ENST00000539553.2_Silent_p.S643S|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	659	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATGGCACCGCTGACGGCCC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11412	0.0		0.0	False		,,,				2504	0.0				NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2056-2058)agC>agT		solute carrier family 4, sodium borate transporter, member 11							60	60	60					20																	3209830		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209830G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1977C>T	20.37:g.3209830G>A						SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.S659S|SLC4A11_ENST00000539553.1_Silent_p.S643S	p.S686S	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			16	2159	-			659			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.2058C>T	CCDS13052.1																																																																																				0.617	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			6	58	0	0	0	1	0	6	58					A	3209830	G	A	3209830	2	1	272	1	0	0	0	0	0	0	0	1	14652	1078	38	1		1	SLC4A11	20	3209830	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		3209830	59815690	30	29675											
CSRP2BP	57325	broad.mit.edu	37	chr20	18168088	18168088	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtaaacacgcattctttctGaggctccggcgctgatgcga	11	11	2	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:18168088G>A	ENST00000435364.3	+	10	2675	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	CSRP2BP_ENST00000377681.3_Silent_p.L777L|CSRP2BP_ENST00000489634.2_Silent_p.L650L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	778	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTCTTTCTGAGGCTCCGGC	0.413																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(2332-2334)ctG>ctA		CSRP2 binding protein							81	82	82					20																	18168088		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18168088G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2334G>A	20.37:g.18168088G>A						CSRP2BP_ENST00000377681.2_Silent_p.L777L|CSRP2BP_ENST00000435364.2_Silent_p.L778L|CSRP2BP_ENST00000489634.2_Silent_p.L650L	p.L778L			Q9H8E8	CSR2B_HUMAN			11	2984	+			778			N-acetyltransferase.		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.2334G>A	CCDS13133.1																																																																																				0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		49	60	0	0	0	1	0	49	60					A	18168088	G	A	18168088	2	1	272	1	0	0	0	0	0	0	0	1	3968	1277	45	2		2	CSRP2BP	20	18168088	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08	14958258	18168088	44857432	31	29676											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	21	3	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:22562677G>C	ENST00000377115.4	-	3	1366	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H401Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2. {ECO:0000250}.				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)			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)					TGTGGGGTtggtggtggtggt	0.612																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1183-1185)caC>caG		forkhead box A2							160	156	158					20																	22562677		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22562677G>C	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.1185C>G	20.37:g.22562677G>C	ENSP00000366319:p.His395Gln					FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1387	-	Lung NSC(19;0.188)		395			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.1185C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336270	0.11013	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89485	-2.51;-2.51;-2.52	4.15	-0.0701	0.13748	Forkhead box protein, C-terminal (1);	.	.	.	.	T	0.81451	0.4825	L	0.36672	1.1	0.32494	N	0.539792	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.74278	-0.3717	9	0.40728	T	0.16	.	8.4046	0.32608	0.4526:0.0:0.5474:0.0	.	395;401	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	395;395;401;281	ENSP00000366319:H395Q;ENSP00000400341:H395Q;ENSP00000315955:H401Q	ENSP00000315955:H401Q	H	-	3	2	FOXA2	22510677	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.203000	0.32284	0.134000	0.18681	-0.348000	0.07805	CAC		0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			3	37	0	0	0	1	0	3	37					C	22562677	G	C	22562677	3	2	272	1	0	0	0	0	1	0	0	0	5990	1252	44	4	192	4	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4394589	22562677	40462843	32	29677											
C20orf152	140894	broad.mit.edu	37	chr20	34618499	34618499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttatggcaccccagaaaTacctccccccattgaggatt	6	13	0	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:34618499T>C	ENST00000373973.3	+	12	1833	c.1660T>C	c.(1660-1662)Tac>Cac	p.Y554H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.Y550H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	554																	ACCCCAGAAATACCTCCCCCC	0.463																																						ENST00000373973.3																			0											c.(1660-1662)Tac>Cac		cyclic nucleotide binding domain containing 2							223	217	219					20																	34618499		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34618499T>C	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.1660T>C	20.37:g.34618499T>C	ENSP00000363084:p.Tyr554His					CNBD2_ENST00000349339.1_Missense_Mutation_p.Y550H|CNBD2_ENST00000538900.1_3'UTR	p.Y554H							12	1833	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1660T>C		.	.	.	.	.	.	.	.	.	.	T	10.70	1.424028	0.25639	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.12039	2.72;2.72	5.43	-0.927	0.10451	.	1.939760	0.02168	N	0.059438	T	0.11495	0.0280	L	0.43923	1.385	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.25082	-1.0142	10	0.25106	T	0.35	-0.1038	2.7615	0.05307	0.3228:0.2731:0.0:0.4041	.	550	Q96M20-2	.	H	554;550	ENSP00000363084:Y554H;ENSP00000340954:Y550H	ENSP00000340954:Y550H	Y	+	1	0	C20orf152	34081913	0.002000	0.14202	0.375000	0.26029	0.437000	0.31866	-0.033000	0.12246	0.114000	0.18032	0.459000	0.35465	TAC		0.463	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		133	168	0	0	0	1	0	133	168					C	34618499	T	C	34618499	3	2	272	1	0	0	0	0	1	0	0	0	2092	1406	49	3	1694	3	C20orf152	20	34618499	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	12055822	34618499	28407021	33	29678											
SLC5A3	6526	broad.mit.edu	37	chr21	35468232	35468232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgtctcccctaagaaAgaagccctgaaaatgctgcg	9	10	1	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr21:35468232A>G	ENST00000381151.3	+	2	1247	c.735A>G	c.(733-735)aaA>aaG	p.K245K	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Silent_p.K245K|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	245					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCTAAGAAAGAAGCCCTGA	0.453																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(733-735)aaA>aaG		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							119	118	118					21																	35468232		2203	4300	6503	SO:0001819	synonymous_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468232A>G		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"Solute carriers"	11038	protein-coding gene	gene with protein product		600444	"solute carrier family 5 (inositol transporter), member 3"			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.735A>G	21.37:g.35468232A>G						MRPS6_ENST00000399312.2_Intron	p.K245K	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1247	+			245					O43489	Silent	SNP	ENST00000381151.3	37	c.735A>G	CCDS33549.1																																																																																				0.453	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			49	74	0	0	0	1	0	49	74					G	35468232	A	G	35468232	2	3	272	1	0	0	0	0	0	0	0	1	14666	69	3	3		3	SLC5A3	21	35468232	Silent	SNP	A	TCGA-HT-7692-01A-12D-2253-08		35468232	12661663	34	29679											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808237	18808237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgcatcagcaggagggCgcccccaactcctcctatac	8	18	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:18808237C>T	ENST00000400664.1	+	1	814	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	254						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGAGGGCGCCCCCAACT	0.612																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(760-762)ggC>ggT		kelch domain containing 7A							60	63	62					1																	18808237		2203	4300	6503	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18808237C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.762C>T	1.37:g.18808237C>T							p.G254G	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	814	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	254					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.762C>T	CCDS185.2																																																																																				0.612	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		6	138	0	0	0	1	0	6	138					T	18808237	C	T	18808237	2	4	273	1	0	0	0	0	0	0	0	1	8360	755	27	1		1	KLHDC7A	1	18808237	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		18808237	230442384	1	29680											
OR6N2	81442	broad.mit.edu	37	chr1	158747181	158747181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcactgagaatattagacAacatcttagggatagtggta	9	6	2	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:158747181A>G	ENST00000339258.1	-	1	244	c.245T>C	c.(244-246)tTg>tCg	p.L82S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	82						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(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATATTAGACAACATCTTAGG	0.448																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(244-246)tTg>tCg		olfactory receptor, family 6, subfamily N, member 2							156	149	151					1																	158747181		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747181A>G	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.245T>C	1.37:g.158747181A>G	ENSP00000344101:p.Leu82Ser						p.L82S	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	244	-	all_hematologic(112;0.0378)		82					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.245T>C	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846918	0.71603	.	.	ENSG00000188340	ENST00000339258	T	0.00428	7.44	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30419	N	0.009661	T	0.01189	0.0039	H	0.96333	3.805	0.38858	D	0.956418	D	0.89917	1.0	D	0.87578	0.998	T	0.15549	-1.0433	10	0.87932	D	0	-6.0412	14.1215	0.65189	1.0:0.0:0.0:0.0	.	82	Q8NGY6	OR6N2_HUMAN	S	82	ENSP00000344101:L82S	ENSP00000344101:L82S	L	-	2	0	OR6N2	157013805	0.891000	0.30450	0.989000	0.46669	0.903000	0.53119	7.180000	0.77674	2.169000	0.68431	0.528000	0.53228	TTG		0.448	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			9	149	0	0	0	1	0	9	149					G	158747181	A	G	158747181	3	3	273	1	0	0	0	0	1	0	0	0	11207	131	5	3	711	3	OR6N2	1	158747181	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	139938944	158747181	90503440	2	29681											
SELE	6401	broad.mit.edu	37	chr1	169699643	169699643	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtctccatgctgcttggCaggtaacccctatcacagct	9	13	2	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:169699643C>A	ENST00000333360.7	-	5	784	c.645G>T	c.(643-645)ctG>ctT	p.L215L	SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L|SELE_ENST00000367781.4_Silent_p.L215L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367782.4_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367775.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	215	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	TGCTGCTTGGCAGGTAACCCC	0.512																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(643-645)ctG>ctT		selectin E							128	117	121					1																	169699643		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169699643C>A	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.645G>T	1.37:g.169699643C>A						SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L|SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Silent_p.L215L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.L215L|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367780.4_Intron	p.L215L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			5	784	-	all_hematologic(923;0.208)		215			Sushi 1.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.645G>T	CCDS1283.1																																																																																				0.512	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		5	130	1	0	2.7689e-08	1	2.90287e-08	5	130					A	169699643	C	A	169699643	2	1	273	1	0	0	0	0	0	0	0	1	14013	697	25	4		4	SELE	1	169699643	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08	10952462	169699643	79550978	3	29682											
COLEC11	78989	broad.mit.edu	37	chr2	3691639	3691639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagatggtggcctcgggCggctggaacgacgtggcctg	20	9	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:3691639C>T	ENST00000349077.4	+	7	850	c.747C>T	c.(745-747)ggC>ggT	p.G249G	COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000418971.2_Silent_p.G263G|COLEC11_ENST00000403096.3_Silent_p.G223G|COLEC11_ENST00000402794.1_Silent_p.G199G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000487365.1_3'UTR	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	249	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)		TGGCCTCGGGCGGCTGGAACG	0.617																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(667-669)ggC>ggT		collectin sub-family member 11							58	61	60					2																	3691639		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691639C>T	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.747C>T	2.37:g.3691639C>T						COLEC11_ENST00000418971.2_Silent_p.G263G|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000349077.4_Silent_p.G249G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000402794.1_Silent_p.G199G	p.G223G	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	1160	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		249			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.669C>T	CCDS1649.1																																																																																				0.617	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		47	59	0	0	0	1	0	47	59					T	3691639	C	T	3691639	2	4	273	1	0	0	0	0	0	0	0	1	3711	755	27	1		1	COLEC11	2	3691639	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		3691639	239507734	4	29683											
XDH	7498	broad.mit.edu	37	chr2	31589846	31589846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaagtgctcttggccacCgatgtatatctcccctgggg	12	11	2	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:31589846C>T	ENST00000379416.3	-	21	2260	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	738					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)	TCTTGGCCACCGATGTATATC	0.537																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				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						c.(2212-2214)Ggt>Agt		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						131	104	113					2																	31589846		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31589846C>T	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.2212G>A	2.37:g.31589846C>T	ENSP00000368727:p.Gly738Ser						p.G738S	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			21	2260	-	Acute lymphoblastic leukemia(172;0.155)		738					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2212G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472564	0.96274	.	.	ENSG00000158125	ENST00000379416	T	0.46451	0.87	5.84	5.84	0.93424	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73956	-0.3819	10	0.72032	D	0.01	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	738	P47989	XDH_HUMAN	S	738	ENSP00000368727:G738S	ENSP00000368727:G738S	G	-	1	0	XDH	31443350	1.000000	0.71417	0.873000	0.34254	0.835000	0.47333	7.703000	0.84585	2.765000	0.95021	0.655000	0.94253	GGT		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		8	117	0	0	0	1	0	8	117					T	31589846	C	T	31589846	3	4	273	1	0	0	0	0	1	0	0	0	17423	652	23	1	1853	1	XDH	2	31589846	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	27898207	31589846	211609527	5	29684											
STEAP3	55240	broad.mit.edu	37	chr2	120003112	120003112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccactgatcagcctccacCtggtggacagcgatagtagc	11	13	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:120003112C>A	ENST00000354888.5	+	3	544	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	14					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAGCCTCCACCTGGTGGACAG	0.612																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(40-42)Ctg>Atg		STEAP family member 3, metalloreductase							45	49	48					2																	120003112		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003112C>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.40C>A	2.37:g.120003112C>A	ENSP00000346961:p.Leu14Met					STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M	p.L14M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	544	+			14					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.40C>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	4.276	0.050448	0.08243	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.09163	3.22;3.22;3.01;3.21;3.22;3.01;3.22;3.22	4.69	1.76	0.24704	.	0.382752	0.23232	N	0.050447	T	0.09069	0.0224	L	0.52266	1.64	0.09310	N	1	P;P;B	0.36438	0.553;0.545;0.214	B;B;B	0.38056	0.204;0.264;0.135	T	0.17745	-1.0359	9	.	.	.	-8.9884	2.9912	0.05983	0.1228:0.5279:0.1201:0.2292	.	14;24;14	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	M	14;14;14;24;14;14;14;14	ENSP00000376820:L14M;ENSP00000346961:L14M;ENSP00000396873:L14M;ENSP00000376822:L24M;ENSP00000376818:L14M;ENSP00000386510:L14M;ENSP00000376819:L14M;ENSP00000396214:L14M	.	L	+	1	2	STEAP3	119719582	0.000000	0.05858	0.652000	0.29579	0.147000	0.21601	0.192000	0.17096	0.557000	0.29117	0.655000	0.94253	CTG		0.612	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		3	73	1	0	1	1	1	3	73					A	120003112	C	A	120003112	3	1	273	1	0	0	0	0	1	0	0	0	15278	680	24	4	76	4	STEAP3	2	120003112	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	88413266	120003112	123196261	6	29685											
LRP2	4036	broad.mit.edu	37	chr2	170026253	170026253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catccaaacagtcagcggatCcatcgcatttcagttcactg	7	13	3	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:170026253C>A	ENST00000263816.3	-	60	11741	c.11456G>T	c.(11455-11457)gGa>gTa	p.G3819V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3819	LDL-receptor class A 33. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	GTCAGCGGATCCATCGCATTT	0.428																																						ENST00000263816.3																			0				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						c.(11455-11457)gGa>gTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						221	173	189					2																	170026253		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170026253C>A		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.11456G>T	2.37:g.170026253C>A	ENSP00000263816:p.Gly3819Val						p.G3819V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	60	11741	-			3819			LDL-receptor class A 33.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11456G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969617	0.74246	.	.	ENSG00000081479	ENST00000263816	D	0.96913	-4.17	6.03	6.03	0.97812	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	3819	P98164	LRP2_HUMAN	V	3819	ENSP00000263816:G3819V	ENSP00000263816:G3819V	G	-	2	0	LRP2	169734499	1.000000	0.71417	0.931000	0.37212	0.176000	0.22953	5.912000	0.69948	2.861000	0.98227	0.655000	0.94253	GGA		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		17	108	1	0	1.67942e-08	1	1.78954e-08	17	108					A	170026253	C	A	170026253	3	1	273	1	0	0	0	0	1	0	0	0	8956	855	30	4	2591	4	LRP2	2	170026253	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	50023141	170026253	73173120	7	29686											
MAP1D	254042	broad.mit.edu	37	chr2	172930372	172930372	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatagatgctcttgttcatcGggaaatcatcagtcataatg	9	7	5	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:172930372G>T	ENST00000315796.4	+	4	776	c.389G>T	c.(388-390)cGg>cTg	p.R130L	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						CTTGTTCATCGGGAAATCATC	0.368																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(388-390)cGg>cTg		methionyl aminopeptidase type 1D (mitochondrial)							212	173	186					2																	172930372		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172930372G>T	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.389G>T	2.37:g.172930372G>T	ENSP00000315152:p.Arg130Leu					METAP1D_ENST00000488581.1_Intron	p.R130L	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			4	776	+			130					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.389G>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	G	5.039	0.192835	0.09599	.	.	ENSG00000172878	ENST00000315796	T	0.76709	-1.04	5.68	1.77	0.24775	Peptidase M24, structural domain (3);	0.314175	0.39615	N	0.001313	T	0.62196	0.2408	L	0.33710	1.025	0.23776	N	0.996878	B	0.12630	0.006	B	0.11329	0.006	T	0.48811	-0.9002	10	0.35671	T	0.21	-8.3285	5.7714	0.18255	0.7353:0.0:0.1401:0.1246	.	130	Q6UB28	AMP1D_HUMAN	L	130	ENSP00000315152:R130L	ENSP00000315152:R130L	R	+	2	0	METAP1D	172638618	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	4.660000	0.61511	0.153000	0.19213	-1.348000	0.01239	CGG		0.368	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		3	92	1	0	1	1	1	3	92					T	172930372	G	T	172930372	3	4	273	1	0	0	0	0	1	0	0	0	9229	1116	39	4	403	4	MAP1D	2	172930372	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	2904119	172930372	70269001	8	29687											
HOXD3	3232	broad.mit.edu	37	chr2	177033896	177033896	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcctgagtgcacaatgcaGaaggctgcttactatgaaaa	9	9	0	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:177033896G>A	ENST00000468418.3	+	3	2144	c.54G>A	c.(52-54)caG>caA	p.Q18Q	HOXD3_ENST00000410016.1_Silent_p.Q18Q|HOXD3_ENST00000249440.3_Silent_p.Q18Q			P31249	HXD3_HUMAN	homeobox D3	18					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)		GCACAATGCAGAAGGCTGCTT	0.527																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(52-54)caG>caA		homeobox D3							103	100	101					2																	177033896		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177033896G>A		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.54G>A	2.37:g.177033896G>A						HOXD3_ENST00000410016.1_Silent_p.Q18Q|HOXD3_ENST00000249440.3_Silent_p.Q18Q	p.Q18Q			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2144	+			18					Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.54G>A	CCDS2270.1																																																																																				0.527	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			3	74	0	0	0	1	0	3	74					A	177033896	G	A	177033896	2	1	273	1	0	0	0	0	0	0	0	1	7323	933	33	2		2	HOXD3	2	177033896	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08	4103524	177033896	66165477	9	29688											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	46	0	0	0	1	0	40	46					A	209113113	G	A	209113113	3	1	273	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	32079217	209113113	34086260	10	29689											
CDCP1	64866	broad.mit.edu	37	chr3	45152168	45152168	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcctccttcctctcaCagttggagaggttgaagttg	10	13	1	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:45152168C>G	ENST00000296129.1	-	4	955	c.821G>C	c.(820-822)tGt>tCt	p.C274S	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	274						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTCCTCTCACAGTTGGAGAG	0.592																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(820-822)tGt>tCt		CUB domain containing protein 1							114	110	111					3																	45152168		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45152168C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.821G>C	3.37:g.45152168C>G	ENSP00000296129:p.Cys274Ser					CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S	p.C274S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	4	955	-			274					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.821G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692471	0.88735	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.28069	1.63;1.63	5.87	5.87	0.94306	CUB (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.71581	2.175	0.48762	D	0.999705	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58002	-0.7713	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	274;274	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	S	274	ENSP00000296129:C274S;ENSP00000399342:C274S	ENSP00000296129:C274S	C	-	2	0	CDCP1	45127172	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.634000	0.67833	2.941000	0.99782	0.655000	0.94253	TGT		0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		3	137	0	0	0	1	0	3	137					G	45152168	C	G	45152168	3	3	273	1	0	0	0	0	1	0	0	0	3093	478	17	4	1721	4	CDCP1	3	45152168	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		45152168	152870262	11	29690											
FYCO1	79443	broad.mit.edu	37	chr3	46023170	46023170	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagttctgtcacagcatcTttaagacaacaaataggaac	6	9	3	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:46023170T>C	ENST00000296137.2	-	3	261		c.e3-2		FYCO1_ENST00000535325.1_Splice_Site	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCACAGCATCTTTAAGACAAC	0.408																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.e3-2		FYVE and coiled-coil domain containing 1							115	112	113					3																	46023170		2203	4300	6503	SO:0001630	splice_region_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46023170T>C	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.56-2A>G	3.37:g.46023170T>C						FYCO1_ENST00000535325.1_Splice_Site		NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	3	261	-								B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Splice_Site	SNP	ENST00000296137.2	37		CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405671	0.83230	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7731	0.69693	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYCO1	45998174	1.000000	0.71417	0.939000	0.37840	0.982000	0.71751	7.627000	0.83176	2.285000	0.76669	0.533000	0.62120	.		0.408	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	Intron	26	33	0	0	0	1	0	26	33					C	46023170	T	C	46023170	5	2	273	1	0	0	0	0	0	0	1	0	6125	1623	56	3	4446	3	FYCO1	3	46023170	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	871002	46023170	151999260	12	29691											
PHF7	51533	broad.mit.edu	37	chr3	52454349	52454349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgtgtgcaagaaaaAgggagctgctatcaactgcc	11	9	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:52454349A>G	ENST00000327906.3	+	6	971	c.311A>G	c.(310-312)aAg>aGg	p.K104R	PHF7_ENST00000347025.2_Missense_Mutation_p.K104R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	104						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGCAAGAAAAAGGGAGCTGCT	0.453																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(310-312)aAg>aGg		PHD finger protein 7							144	143	143					3																	52454349		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52454349A>G	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.311A>G	3.37:g.52454349A>G	ENSP00000333024:p.Lys104Arg					PHF7_ENST00000478707.1_Missense_Mutation_p.K104R|PHF7_ENST00000347025.2_Missense_Mutation_p.K104R	p.K104R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	6	971	+			104					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.311A>G	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.74|16.74	3.205791|3.205791	0.58234|0.58234	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916|ENST00000454052;ENST00000461861	T;T;T|.	0.71222|.	-0.55;-0.55;-0.55|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);|.	0.170104|.	0.53938|.	D|.	0.000050|.	T|T	0.51550|0.51550	0.1681|0.1681	L|L	0.35723|0.35723	1.085|1.085	0.34093|0.34093	D|D	0.660913|0.660913	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.63363|0.63363	-0.6654|-0.6654	10|6	0.18276|0.36615	T|T	0.48|0.2	-11.2602|-11.2602	12.457|12.457	0.55710|0.55710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	104;104|.	A8K856;Q9BWX1|.	.;PHF7_HUMAN|.	R|G	104;104;104;12|69;64	ENSP00000419316:K104R;ENSP00000333024:K104R;ENSP00000246282:K104R|.	ENSP00000333024:K104R|ENSP00000399257:R69G	K|R	+|+	2|1	0|2	PHF7|PHF7	52429389|52429389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.718000|2.718000	0.47236|0.47236	2.187000|2.187000	0.69744|0.69744	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.453	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		3	154	0	0	0	1	0	3	154					G	52454349	A	G	52454349	3	3	273	1	0	0	0	0	1	0	0	0	11839	72	3	3	329	3	PHF7	3	52454349	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6431179	52454349	145568081	13	29692											
EPHA3	2042	broad.mit.edu	37	chr3	89480429	89480429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaacatcttgatcaacAgtaacttggtgtgtaaggtt	10	7	2	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:89480429A>G	ENST00000336596.2	+	13	2491	c.2266A>G	c.(2266-2268)Agt>Ggt	p.S756G	EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTGATCAACAGTAACTTGGT	0.478										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2266-2268)Agt>Ggt		EPH receptor A3							168	152	157					3																	89480429		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480429A>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2266A>G	3.37:g.89480429A>G	ENSP00000337451:p.Ser756Gly	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G	p.S756G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2491	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	756			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2266A>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420760	0.62622	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83250	-1.7;-1.7	5.33	5.33	0.75918	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	0.83972	0.5370	N	0.17764	0.52	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.83367	0.0005	9	.	.	.	.	15.5821	0.76452	1.0:0.0:0.0:0.0	.	756	P29320	EPHA3_HUMAN	G	756	ENSP00000337451:S756G;ENSP00000419190:S756G	.	S	+	1	0	EPHA3	89563119	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.287000	0.95975	2.139000	0.66308	0.477000	0.44152	AGT		0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		18	37	0	0	0	1	0	18	37					G	89480429	A	G	89480429	3	3	273	1	0	0	0	0	1	0	0	0	5168	188	7	3	2342	3	EPHA3	3	89480429	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	37026080	89480429	108542001	14	29693											
SULT1E1	6783	broad.mit.edu	37	chr4	70709895	70709895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccctttctcatgaagggCgacaatttctggttcataat	7	10	4	1	rs376968582		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	TCATGAAGGGCGACAATTTCT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		18143	0.0		0.0	False		,,,				2504	0.001					ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(754-756)tcG>tcA		sulfotransferase family 1E, estrogen-preferring, member 1		C		0,4406		0,0,2203	265	233	244		756	-7.9	0.1	4		244	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SULT1E1	NM_005420.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		252/295	70709895	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70709895C>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.756G>A	4.37:g.70709895C>T							p.S252S	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			7	868	-			252					Q8N6X5	Silent	SNP	ENST00000226444.3	37	c.756G>A	CCDS3531.1																																																																																				0.393	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		58	124	0	0	0	1	0	58	124					T	70709895	C	T	70709895	2	4	273	1	0	0	0	0	0	0	0	1	15377	755	27	1		1	SULT1E1	4	70709895	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		70709895	120444381	15	29694											
GPR98	84059	broad.mit.edu	37	chr5	90106491	90106491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatggatatttccttcccCgagacaactgtggctgtagc	11	10	0	1	rs547006152		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:90106491C>T	ENST00000405460.2	+	74	15510	c.15414C>T	c.(15412-15414)ccC>ccT	p.P5138P	GPR98_ENST00000425867.2_Silent_p.P799P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5138					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)		TTTCCTTCCCCGAGACAACTG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20668	0.0		0.0	False		,,,				2504	0.0					ENST00000405460.2																			0				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						c.(15412-15414)ccC>ccT		G protein-coupled receptor 98							175	173	174					5																	90106491		1955	4155	6110	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106491C>T	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.15414C>T	5.37:g.90106491C>T						GPR98_ENST00000425867.2_Silent_p.P799P	p.P5138P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15510	+		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)	5138					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15414C>T	CCDS47246.1																																																																																				0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	216	0	0	0	1	0	6	216					T	90106491	C	T	90106491	2	4	273	1	0	0	0	0	0	0	0	1	6721	639	23	1		1	GPR98	5	90106491	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		90106491	90808769	16	29695											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631898	101631898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttgggagggcgacgcagaCaagcggcgcaggatgtctgg	18	8	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:101631898C>G	ENST00000310954.6	-	1	355	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCGACGCAGACAAGCGGCGCA	0.577																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(67-69)ttG>ttC		solute carrier organic anion transporter family, member 4C1							74	83	80					5																	101631898		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101631898C>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.69G>C	5.37:g.101631898C>G	ENSP00000309741:p.Leu23Phe						p.L23F	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	1	355	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	23						Missense_Mutation	SNP	ENST00000310954.6	37	c.69G>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093572	0.20471	.	.	ENSG00000173930	ENST00000310954	T	0.40476	1.03	4.11	-0.0722	0.13740	.	4.406720	0.00531	N	0.000211	T	0.29491	0.0735	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05582	-1.0876	10	0.09843	T	0.71	.	3.6401	0.08163	0.1483:0.4116:0.3446:0.0955	.	23	Q6ZQN7	SO4C1_HUMAN	F	23	ENSP00000309741:L23F	ENSP00000309741:L23F	L	-	3	2	SLCO4C1	101659797	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.322000	0.08007	0.010000	0.14839	-0.282000	0.10007	TTG		0.577	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		21	31	0	0	0	1	0	21	31					G	101631898	C	G	101631898	3	3	273	1	0	0	0	0	1	0	0	0	14730	477	17	4	2157	4	SLCO4C1	5	101631898	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	11525407	101631898	79283362	17	29696											
TRIM41	90933	broad.mit.edu	37	chr5	180651435	180651435	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatggaggaggaggacctgAggggggaggatgaggaggac	22	4	0	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:180651435A>T	ENST00000315073.5	+	1	1146	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	146	Glu-rich.				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)			ggaggacctgaggggggagga	0.627																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(436-438)Agg>Tgg		tripartite motif containing 41							91	94	93					5																	180651435		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651435A>T	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.436A>T	5.37:g.180651435A>T	ENSP00000320869:p.Arg146Trp					TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W	p.R146W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1146	+	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)	146			Glu-rich.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.436A>T	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928948	0.34002	.	.	ENSG00000146063	ENST00000351937;ENST00000315073	T;T	0.56275	0.96;0.47	4.45	1.99	0.26369	Zinc finger, RING-type (1);	0.413845	0.20089	N	0.099500	T	0.35219	0.0924	L	0.29908	0.895	0.29703	N	0.839987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.26430	-1.0103	10	0.66056	D	0.02	.	4.7059	0.12849	0.7375:0.0:0.0949:0.1676	.	146;146;146	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	W	146	ENSP00000336749:R146W;ENSP00000320869:R146W	ENSP00000320869:R146W	R	+	1	2	TRIM41	180584041	0.101000	0.21875	0.998000	0.56505	0.912000	0.54170	-0.019000	0.12546	0.227000	0.20999	-0.415000	0.06103	AGG		0.627	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		28	47	0	0	0	1	0	28	47					T	180651435	A	T	180651435	3	4	273	1	0	0	0	0	1	0	0	0	16513	295	11	5	438	5	TRIM41	5	180651435	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	79019537	180651435	263825	18	29697											
FILIP1	27145	broad.mit.edu	37	chr6	76024718	76024718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcttctcttcttctTccctcagcttctgagtaaga	6	12	5	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:76024718T>C	ENST00000237172.7	-	5	1160	c.830A>G	c.(829-831)gAa>gGa	p.E277G	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.E277G|FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	277										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						CTCTTCTTCTTCCCTCAGCTT	0.423																																						ENST00000393004.2																			0				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						c.(829-831)gAa>gGa		filamin A interacting protein 1							189	177	181					6																	76024718		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024718T>C	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.830A>G	6.37:g.76024718T>C	ENSP00000237172:p.Glu277Gly					FILIP1_ENST00000237172.7_Missense_Mutation_p.E277G|FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G|FILIP1_ENST00000498523.1_5'UTR	p.E277G			Q7Z7B0	FLIP1_HUMAN			5	1051	-			277					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.830A>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415046	0.62511	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21932	1.99;1.98;2.03	5.75	5.75	0.90469	.	0.049718	0.85682	D	0.000000	T	0.19287	0.0463	M	0.61703	1.905	0.80722	D	1	P;B;B	0.34562	0.457;0.288;0.411	B;B;B	0.39503	0.11;0.158;0.301	T	0.02042	-1.1224	10	0.72032	D	0.01	-29.53	16.3473	0.83146	0.0:0.0:0.0:1.0	.	277;277;277	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	G	277;277;178	ENSP00000376728:E277G;ENSP00000237172:E277G;ENSP00000359037:E178G	ENSP00000237172:E277G	E	-	2	0	FILIP1	76081438	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.945000	0.70226	2.320000	0.78422	0.528000	0.53228	GAA		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		4	87	0	0	0	1	0	4	87					C	76024718	T	C	76024718	3	2	273	1	0	0	0	0	1	0	0	0	5894	1783	62	3	2819	3	FILIP1	6	76024718	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		76024718	95090349	19	29698											
LPA	4018	broad.mit.edu	37	chr6	161016555	161016555	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctggattcctgcagtagttCctggtcaggccactgcaaat	10	11	2	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:161016555C>G	ENST00000316300.5	-	21	3344	c.3300G>C	c.(3298-3300)agG>agC	p.R1100S	LPA_ENST00000447678.1_Missense_Mutation_p.R1100S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3608	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCCTGGTCAGGC	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3298-3300)agG>agC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						68	66	67					6																	161016555		2055	4214	6269	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161016555C>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3300G>C	6.37:g.161016555C>G	ENSP00000321334:p.Arg1100Ser					LPA_ENST00000316300.5_Missense_Mutation_p.R1100S	p.R1100S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	22	3420	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3608			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3300G>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	9.668	1.145921	0.21288	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61742	0.08;0.08	2.31	1.39	0.22231	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.24586	0.0596	N	0.04387	-0.21	0.09310	N	0.999998	B	0.27416	0.178	P	0.50570	0.644	T	0.54275	-0.8318	9	0.13108	T	0.6	.	4.2332	0.10613	0.0:0.7889:0.0:0.2111	.	3608	P08519	APOA_HUMAN	S	1100	ENSP00000321334:R1100S;ENSP00000395608:R1100S	ENSP00000321334:R1100S	R	-	3	2	LPA	160936545	0.681000	0.27614	0.769000	0.31535	0.627000	0.37826	0.723000	0.25939	1.265000	0.44215	0.205000	0.17691	AGG		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	66	0	0	0	1	0	6	66					G	161016555	C	G	161016555	3	3	273	1	0	0	0	0	1	0	0	0	8903	854	30	4	2898	4	LPA	6	161016555	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	84991837	161016555	10098512	20	29699											
C8orf47	203111	broad.mit.edu	37	chr8	99101917	99101917	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctagaaacaatttccaaagaGaatgaatctccagaaatatt	5	7	1	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:99101917G>C	ENST00000318528.3	+	2	1031	c.672G>C	c.(670-672)gaG>gaC	p.E224D	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		224	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTTCCAAAGAGAATGAATCTC	0.483																																						ENST00000318528.3																			0				kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13						c.(670-672)gaG>gaC		chromosome 8 open reading frame 47							30	30	30					8																	99101917		2203	4298	6501	SO:0001583	missense	203111							g.chr8:99101917G>C																												ENST00000318528.3:c.672G>C	8.37:g.99101917G>C	ENSP00000315614:p.Glu224Asp					C8orf47_ENST00000545282.1_Intron	p.E224D	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	1031	+	Breast(36;2.31e-06)		224			Glu-rich.		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.672G>C	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560750	0.65538	.	.	ENSG00000177459	ENST00000318528	T	0.50548	0.74	5.23	2.36	0.29203	.	0.242590	0.29246	N	0.012709	T	0.45377	0.1339	L	0.56769	1.78	0.09310	N	1	P	0.52316	0.952	P	0.49301	0.606	T	0.33574	-0.9863	10	0.51188	T	0.08	-2.6275	4.223	0.10567	0.1864:0.0:0.6313:0.1823	.	224	Q6P6B1	CH047_HUMAN	D	224	ENSP00000315614:E224D	ENSP00000315614:E224D	E	+	3	2	C8orf47	99171093	0.013000	0.17824	0.022000	0.16811	0.322000	0.28314	0.301000	0.19174	1.435000	0.47434	0.655000	0.94253	GAG		0.483	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			17	33	0	0	0	1	0	17	33					C	99101917	G	C	99101917	3	2	273	1	0	0	0	0	1	0	0	0	2432	933	33	4	678	4	C8orf47	8	99101917	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		99101917	47262105	21	29700											
ZFAT	57623	broad.mit.edu	37	chr8	135649705	135649705	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctttggcagcatttaccTgcttctccttcctcctcacc	5	18	2	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:135649705T>C	ENST00000377838.3	-	3	621	c.447A>G	c.(445-447)gcA>gcG	p.A149A	ZFAT_ENST00000429442.2_Splice_Site_p.A137A|ZFAT_ENST00000520356.1_Splice_Site_p.A137A|ZFAT_ENST00000520727.1_Splice_Site_p.A137A|ZFAT_ENST00000523399.1_Splice_Site_p.A149A|ZFAT_ENST00000520214.1_Splice_Site_p.A137A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	149					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)			AGCATTTACCTGCTTCTCCTT	0.468																																						ENST00000520727.1																			0				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						c.e4+1		zinc finger and AT hook domain containing							99	104	102					8																	135649705		2035	4194	6229	SO:0001630	splice_region_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649705T>C	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.448+1A>G	8.37:g.135649705T>C						ZFAT_ENST00000429442.2_Splice_Site_p.A137_splice|ZFAT_ENST00000377838.3_Splice_Site_p.A149_splice|ZFAT_ENST00000520356.1_Splice_Site_p.A137_splice|ZFAT_ENST00000520214.1_Splice_Site_p.A137_splice|ZFAT_ENST00000523399.1_Splice_Site_p.A149_splice	p.A137_splice	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	710	-	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)		149					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Splice_Site	SNP	ENST00000377838.3	37	c.412_splice	CCDS47924.1																																																																																				0.468	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	Silent	75	105	0	0	0	1	0	75	105					C	135649705	T	C	135649705	5	2	273	1	0	0	0	0	0	0	1	0	17629	1594	55	3	3340	3	ZFAT	8	135649705	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	36547788	135649705	10714317	22	29701											
PTCH1	5727	broad.mit.edu	37	chr9	98270593	98270595	+	In_Frame_Del	DEL	GCC	GCC	-													ggggcaccgatacagccgctGccgccgccgccgcggtcctg							TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:98270593_98270595delGCC	ENST00000331920.6	-	1	348_350	c.49_51delGGC	c.(49-51)ggcdel	p.G17del	PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000429896.2_5'Flank|PTCH1_ENST00000418258.1_5'Flank|PTCH1_ENST00000421141.1_5'Flank|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000437951.1_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	17	Gly-rich.				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)				TACAGCCGCTGCCGCCGCCGCCG	0.813																																						ENST00000331920.6																			0				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						c.(49-51)del		patched 1			,,	4,318		2,0,159					,,	-0.8	0.9			2	16,1124		5,6,559	no	intron,intron,coding	PTCH1	NM_001083603.1,NM_001083602.1,NM_000264.3	,,	7,6,718	A1A1,A1R,RR		1.4035,1.2422,1.368	,,	,,		20,1442				SO:0001651	inframe_deletion	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98270593_98270595delGCC	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.49_51delGGC	9.37:g.98270602_98270604delGCC	ENSP00000332353:p.Gly17del					PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000430669.2_Intron	p.G17del	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN			1	348_350	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	17			Gly-rich.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	In_Frame_Del	DEL	ENST00000331920.6	37	c.49_51delGGC	CCDS6714.1																																																																																				0.813	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		2	4						2	4	---	---	---	---	-	98270595	GCC	-	98270593	7	5	273	1	0	1	0	1	0	0	0	0	12730	1306	46	0	4384	0	PTCH1	9	98270593	In_Frame_Del	DEL	GCC	TCGA-HT-7693-01A-11D-2253-08		98270593	42942838	23	29702											
OR5C1	392391	broad.mit.edu	37	chr9	125551909	125551909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgtgatccacatgcGctcggtcgagggcagtcggc	17	11	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:125551909G>A	ENST00000373680.2	+	1	760	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	233						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)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATCCACATGCGCTCGGTCGAG	0.592																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(697-699)cGc>cAc		olfactory receptor, family 5, subfamily C, member 1							74	69	71					9																	125551909		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551909G>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.698G>A	9.37:g.125551909G>A	ENSP00000362784:p.Arg233His						p.R233H	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	760	+			233					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.698G>A	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	0.414	-0.912010	0.02415	.	.	ENSG00000148215	ENST00000373680	T	0.39229	1.09	5.46	-2.97	0.05530	GPCR, rhodopsin-like superfamily (1);	1.106120	0.07134	N	0.846175	T	0.20007	0.0481	N	0.12443	0.215	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29518	-1.0009	10	0.09590	T	0.72	.	7.9826	0.30192	0.5388:0.112:0.3492:0.0	.	233	Q8NGR4	OR5C1_HUMAN	H	233	ENSP00000362784:R233H	ENSP00000362784:R233H	R	+	2	0	OR5C1	124591730	0.000000	0.05858	0.553000	0.28255	0.039000	0.13416	-1.092000	0.03366	-0.391000	0.07763	-0.137000	0.14449	CGC		0.592	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			6	77	0	0	0	1	0	6	77					A	125551909	G	A	125551909	3	1	273	1	0	0	0	0	1	0	0	0	11153	1087	38	1	700	1	OR5C1	9	125551909	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27281316	125551909	15661522	24	29703											
CACNB2	783	broad.mit.edu	37	chr10	18787332	18787332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatgtcagctacagtgcgGcccatgaagatgatgttcca	10	10	1	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr10:18787332G>A	ENST00000324631.7	+	4	442	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T|CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000396576.2_Missense_Mutation_p.A73T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	128	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTACAGTGCGGCCCATGAAGA	0.423																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(217-219)Gcc>Acc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						144	126	132					10																	18787332		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787332G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.382G>A	10.37:g.18787332G>A	ENSP00000320025:p.Ala128Thr					CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000324631.7_Missense_Mutation_p.A128T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T|CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T	p.A73T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			3	718	+			128					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.217G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081037	0.55753	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.74	5.74	0.90152	Src homology-3 domain (3);	0.159276	0.56097	D	0.000036	T	0.71978	0.3404	N	0.16037	0.36	0.50313	D	0.999861	B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B	0.40731	0.039;0.001;0.001;0.002;0.001;0.728;0.005;0.038;0.001;0.001;0.107;0.007;0.001;0.204;0.013;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.35114	0.08;0.002;0.003;0.001;0.0;0.196;0.003;0.036;0.003;0.002;0.061;0.024;0.001;0.082;0.053;0.001	T	0.73636	-0.3920	10	0.38643	T	0.18	-15.68	19.9145	0.97053	0.0:0.0:1.0:0.0	.	80;80;74;74;100;128;80;74;74;84;73;100;100;128;128;128	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	T	128;128;128;100;100;73;73;74;80	ENSP00000320025:A128T;ENSP00000344474:A128T;ENSP00000366545:A128T;ENSP00000282343:A100T;ENSP00000366548:A100T;ENSP00000379821:A73T;ENSP00000366536:A73T;ENSP00000366546:A74T;ENSP00000366532:A80T	ENSP00000282343:A100T	A	+	1	0	CACNB2	18827338	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.888000	0.63164	2.709000	0.92574	0.655000	0.94253	GCC		0.423	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		4	81	0	0	0	1	0	4	81					A	18787332	G	A	18787332	3	1	273	1	0	0	0	0	1	0	0	0	2553	1203	42	2	616	2	CACNB2	10	18787332	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		18787332	116747415	25	29704											
CD248	57124	broad.mit.edu	37	chr11	66084109	66084109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctccagggccacacaGcgctgggccgggcaggggcc	16	16	0	0	rs574387936		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:66084109G>A	ENST00000311330.3	-	1	406	c.390C>T	c.(388-390)cgC>cgT	p.R130R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGGCCACACAGCGCTGGGCCG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		15904	0.0		0.0	False		,,,				2504	0.001					ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(388-390)cgC>cgT		CD248 molecule, endosialin	Cefalotin(DB00456)						19	19	19					11																	66084109		2161	4236	6397	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084109G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.390C>T	11.37:g.66084109G>A						RP11-867G23.13_ENST00000534065.1_RNA	p.R130R	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	406	-			130			C-type lectin.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.390C>T	CCDS8134.1																																																																																				0.701	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		31	17	0	0	0	1	0	31	17					A	66084109	G	A	66084109	2	1	273	1	0	0	0	0	0	0	0	1	2989	958	34	2		2	CD248	11	66084109	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		66084109	68922407	26	29705											
FAM76B	143684	broad.mit.edu	37	chr11	95512812	95512812	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gattccaatttgggctttttCtttggagtttcattctgaat	8	6	3	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:95512812C>G	ENST00000358780.5	-	7	963	c.651G>C	c.(649-651)aaG>aaC	p.K217N	FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	217						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGCTTTTTCTTTGGAGTTT	0.308																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(649-651)aaG>aaC		family with sequence similarity 76, member B							126	121	123					11																	95512812		1792	4063	5855	SO:0001583	missense	143684							g.chr11:95512812C>G		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.651G>C	11.37:g.95512812C>G	ENSP00000351631:p.Lys217Asn					FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N	p.K217N	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			7	963	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	217					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.651G>C	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272360	0.59649	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	L	0.48642	1.525	0.80722	D	1	B	0.27732	0.187	B	0.24155	0.051	T	0.52298	-0.8594	9	0.25106	T	0.35	1.3526	19.5534	0.95331	0.0:1.0:0.0:0.0	.	217	Q5HYJ3	FA76B_HUMAN	N	217	.	ENSP00000351631:K217N	K	-	3	2	FAM76B	95152460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.683000	0.91414	0.650000	0.86243	AAG		0.308	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		14	126	0	0	0	1	0	14	126					G	95512812	C	G	95512812	3	3	273	1	0	0	0	0	1	0	0	0	5625	912	32	4	384	4	FAM76B	11	95512812	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	29428703	95512812	39493704	27	29706											
MGAT4C	25834	broad.mit.edu	37	chr12	86373270	86373270	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cataacgttttccccaacatCtagggctccatgatgcaaaa	6	12	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr12:86373270C>G	ENST00000604798.1	-	8	2438	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	412					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCCCAACATCTAGGGCTCCA	0.318																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1234-1236)Gat>Cat		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							88	88	88					12																	86373270		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373270C>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1234G>C	12.37:g.86373270C>G	ENSP00000474896:p.Asp412His					MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H	p.D412H			Q9UBM8	MGT4C_HUMAN			8	2438	-			412					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1234G>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875886	0.33162	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.30981	1.52;1.51;1.52;1.52;1.52	5.76	5.76	0.90799	.	0.168546	0.49916	D	0.000121	T	0.36496	0.0969	L	0.40543	1.245	0.58432	D	0.999993	P;P	0.43287	0.802;0.694	P;B	0.45037	0.467;0.444	T	0.07673	-1.0760	10	0.62326	D	0.03	-7.2935	19.9607	0.97248	0.0:1.0:0.0:0.0	.	441;412	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	412;441;412;412;412;412	ENSP00000331664:D412H;ENSP00000376900:D441H;ENSP00000449022:D412H;ENSP00000446647:D412H;ENSP00000447253:D412H	ENSP00000331664:D412H	D	-	1	0	MGAT4C	84897401	1.000000	0.71417	0.999000	0.59377	0.040000	0.13550	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	GAT		0.318	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		4	52	0	0	0	1	0	4	52					G	86373270	C	G	86373270	3	3	273	1	0	0	0	0	1	0	0	0	9547	913	32	4	206	4	MGAT4C	12	86373270	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		86373270	47478625	28	29707											
SDR39U1	23351	broad.mit.edu	37	chr14	24909470	24909470	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcggcggcccagggcaGcacccaaggtctgggcaaac	15	14	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:24909470G>A	ENST00000251343.5	+	0	5155				SDR39U1_ENST00000554698.1_Missense_Mutation_p.A126V|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V|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						GCCCAGGGCAGCACCCAAGGT	0.622																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(376-378)gCt>gTt		short chain dehydrogenase/reductase family 39U, member 1							42	51	48					14																	24909470		2077	4206	6283	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909470G>A	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.*2979G>A	14.37:g.24909470G>A						SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V	p.A126V			Q9NRG7	D39U1_HUMAN			4	884	-			260					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.377C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749207	0.30955	.	.	ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225;ENST00000555355	T;T;T;T;T;T;T;T;T	0.32988	2.19;1.88;1.85;1.88;1.89;1.89;1.88;1.44;1.43	4.71	3.8	0.43715	NAD(P)-binding domain (1);	0.540563	0.18577	N	0.137150	T	0.34454	0.0898	M	0.62088	1.915	0.09310	N	1	P;B;B;P;B	0.40211	0.637;0.098;0.262;0.707;0.04	B;B;B;B;B	0.43103	0.408;0.107;0.147;0.234;0.04	T	0.11518	-1.0584	10	0.32370	T	0.25	-15.7999	11.2395	0.48962	0.0:0.3588:0.6412:0.0	.	109;234;260;152;126	G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5	.;.;D39U1_HUMAN;.;.	V	234;260;139;109;152;126;67;128;67;109	ENSP00000382327:A234V;ENSP00000382322:A139V;ENSP00000452499:A109V;ENSP00000446077:A152V;ENSP00000452438:A126V;ENSP00000451903:A67V;ENSP00000452076:A128V;ENSP00000451593:A67V;ENSP00000450946:A109V	ENSP00000336854:A260V	A	-	2	0	SDR39U1	23979310	0.094000	0.21725	0.062000	0.19696	0.712000	0.41017	2.828000	0.48120	1.161000	0.42604	0.563000	0.77884	GCT		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			3	54	0	0	0	1	0	3	54					A	24909470	G	A	24909470	1	1	273	0	1	0	0	0	0	0	0	0	13972	971	34	2		2	SDR39U1	14	24909470	3'UTR	SNP	G	TCGA-HT-7693-01A-11D-2253-08		24909470	82440070	29	29708											
HECTD1	25831	broad.mit.edu	37	chr14	31590686	31590686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcgggagccagctcgaCgttgcagggatgggcgtctc	17	11	1	1	rs370774239		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:31590686C>T	ENST00000399332.1	-	28	5629	c.5141G>A	c.(5140-5142)cGt>cAt	p.R1714H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1714					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)		GCCAGCTCGACGTTGCAGGGA	0.507																																						ENST00000399332.1																			0				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						c.(5140-5142)cGt>cAt		HECT domain containing E3 ubiquitin protein ligase 1		C	HIS/ARG	1,3875		0,1,1937	63	68	66		5141	4.6	1	14		66	0,8262		0,0,4131	no	missense	HECTD1	NM_015382.2	29	0,1,6068	TT,TC,CC		0.0,0.0258,0.0082	benign	1714/2611	31590686	1,12137	1938	4131	6069	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31590686C>T	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.5141G>A	14.37:g.31590686C>T	ENSP00000382269:p.Arg1714His					HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H	p.R1714H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	28	5629	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1714					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5141G>A	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276533|1.276533	0.23307|0.23307	2.58E-4|2.58E-4	0.0|0.0	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957|ENST00000554882	T;T;T|.	0.08102|.	3.13;3.13;3.13|.	5.5|5.5	4.61|4.61	0.57282|0.57282	.|.	0.373597|.	0.17807|.	U|.	0.161334|.	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.08118|0.08118	0|0	0.27686|0.27686	N|N	0.946275|0.946275	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.21014|.	T|.	0.42|.	-8.564|-8.564	10.4469|10.4469	0.44499|0.44499	0.0:0.9099:0.0:0.0901|0.0:0.9099:0.0:0.0901	.|.	1714;1714|.	D3DS86;Q9ULT8|.	.;HECD1_HUMAN|.	H|I	1714;1716;1714;1141|80	ENSP00000450697:R1714H;ENSP00000382269:R1714H;ENSP00000451860:R1141H|.	ENSP00000261312:R1716H|.	R|V	-|-	2|1	0|0	HECTD1|HECTD1	30660437|30660437	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.016000|0.016000	0.09150|0.09150	3.549000|3.549000	0.53681|0.53681	1.317000|1.317000	0.45149|0.45149	-0.150000|-0.150000	0.13652|0.13652	CGT|GTC		0.507	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			15	31	0	0	0	1	0	15	31					T	31590686	C	T	31590686	3	4	273	1	0	0	0	0	1	0	0	0	7039	536	19	1	2755	1	HECTD1	14	31590686	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6681216	31590686	75758854	30	29709											
PNN	5411	broad.mit.edu	37	chr14	39648579	39648579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattaaatatataagaactAagacaaagccccatttgttt	4	6	0	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:39648579A>G	ENST00000216832.4	+	8	773	c.706A>G	c.(706-708)Aag>Gag	p.K236E	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	236	Glu-rich.|Necessary for interaction with RNPS1.|Sufficient for PSAP complex assembly.				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)		TATAAGAACTAAGACAAAGCC	0.338																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(706-708)Aag>Gag		pinin, desmosome associated protein							60	63	62					14																	39648579		2202	4299	6501	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39648579A>G	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.706A>G	14.37:g.39648579A>G	ENSP00000216832:p.Lys236Glu					PNN_ENST00000557680.1_3'UTR	p.K236E	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	8	773	+	Hepatocellular(127;0.213)		236			Glu-rich.|Necessary for interaction with RNPS1.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.706A>G	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746867	0.89663	.	.	ENSG00000100941	ENST00000216832	T	0.39406	1.08	5.96	5.96	0.96718	Pinin/SDK/MemA protein (1);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	M	0.76433	2.335	0.80722	D	1	D	0.57571	0.98	P	0.56474	0.799	T	0.63655	-0.6588	10	0.56958	D	0.05	-17.7915	16.4338	0.83864	1.0:0.0:0.0:0.0	.	236	Q9H307	PININ_HUMAN	E	236	ENSP00000216832:K236E	ENSP00000216832:K236E	K	+	1	0	PNN	38718330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.058000	0.93896	2.270000	0.75569	0.533000	0.62120	AAG		0.338	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		3	24	0	0	0	1	0	3	24					G	39648579	A	G	39648579	3	3	273	1	0	0	0	0	1	0	0	0	12160	363	13	3	736	3	PNN	14	39648579	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	8057893	39648579	67700961	31	29710											
TP53BP1	7158	broad.mit.edu	37	chr15	43701105	43701105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatacttaccagtccagaaTtctttgctcctcaaggctgt	6	11	2	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:43701105T>C	ENST00000263801.3	-	26	5827	c.5575A>G	c.(5575-5577)Att>Gtt	p.I1859V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1859					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)		CAGTCCAGAATTCTTTGCTCC	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				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						c.(5575-5577)Att>Gtt	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							89	84	85					15																	43701105		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43701105T>C	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.5575A>G	15.37:g.43701105T>C	ENSP00000263801:p.Ile1859Val					TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V	p.I1859V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5827	-		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)	1859					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5575A>G	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625339	0.66901	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.34	4.21	0.49690	BRCT (1);	0.233446	0.38548	N	0.001650	D	0.84101	0.5398	N	0.21097	0.63	0.40492	D	0.980554	B;P;B	0.47910	0.296;0.902;0.42	B;P;B	0.57620	0.041;0.824;0.09	T	0.82190	-0.0580	10	0.35671	T	0.21	-12.7552	6.8316	0.23913	0.1446:0.0766:0.0:0.7789	.	1859;1864;1862	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	V	1859;1864;1814;1862	ENSP00000263801:I1859V;ENSP00000371475:I1864V;ENSP00000371470:I1814V;ENSP00000393497:I1862V	ENSP00000263801:I1859V	I	-	1	0	TP53BP1	41488397	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.160000	0.31761	2.148000	0.66965	0.528000	0.53228	ATT		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	91	0	0	0	1	0	6	91					C	43701105	T	C	43701105	3	2	273	1	0	0	0	0	1	0	0	0	16380	1493	52	3	355	3	TP53BP1	15	43701105	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		43701105	58830287	32	29711											
SBK1	388228	broad.mit.edu	37	chr16	28331453	28331453	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgggcctggcgctGgacttcatgcacgggcggca	16	13	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr16:28331453G>C	ENST00000341901.4	+	4	1275	c.486G>C	c.(484-486)ctG>ctC	p.L162L		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GCCTGGCGCTGGACTTCATGC	0.692																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(484-486)ctG>ctC		SH3 domain binding kinase 1							8	9	8					16																	28331453		2163	4247	6410	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331453G>C		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"SH3-binding domain kinase 1"				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.486G>C	16.37:g.28331453G>C							p.L162L	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1275	+			162			Protein kinase.			Silent	SNP	ENST00000341901.4	37	c.486G>C	CCDS32416.1																																																																																				0.692	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		2	9	0	0	0	1	0	2	9					C	28331453	G	C	28331453	2	2	273	1	0	0	0	0	0	0	0	1	13860	1335	47	4		4	SBK1	16	28331453	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		28331453	62023300	33	29712											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	2	0	0	0	1	0	28	2					A	7577121	G	A	7577121	3	1	273	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		7577121	73618089	34	29713											
NOS2	4843	broad.mit.edu	37	chr17	26116671	26116671	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggggactcattctgctGcttgctgaggttgtgatact	13	9	2	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:26116671G>A	ENST00000313735.6	-	3	387	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	52					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCATTCTGCTGCTTGCTGAGG	0.567																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(154-156)Cag>Tag		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						203	163	177					17																	26116671		2203	4300	6503	SO:0001587	stop_gained	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116671G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.154C>T	17.37:g.26116671G>A	ENSP00000327251:p.Gln52*						p.Q52*	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			3	387	-			52					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	ENST00000313735.6	37	c.154C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396258	0.96009	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	4.99	4.01	0.46588	.	1.133310	0.06563	N	0.747114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8704	0.18801	0.0973:0.0:0.7105:0.1923	.	.	.	.	X	52	.	ENSP00000305638:Q52X	Q	-	1	0	NOS2	23140798	0.970000	0.33590	0.237000	0.24090	0.344000	0.29017	2.050000	0.41297	2.497000	0.84241	0.455000	0.32223	CAG		0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		8	184	0	0	0	1	0	8	184					A	26116671	G	A	26116671	4	1	273	1	0	0	0	0	0	1	0	0	10543	1328	46	2	3407	2	NOS2	17	26116671	Nonsense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	18539550	26116671	55078539	35	29714											
TUBG1	7283	broad.mit.edu	37	chr17	40765009	40765009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactcagtgtttcccaaccAggacgagatgagcgatgtgg	12	9	1	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:40765009A>G	ENST00000251413.3	+	6	586	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	175					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	TTTCCCAACCAGGACGAGATG	0.537																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(523-525)cAg>cGg		tubulin, gamma 1							188	151	163					17																	40765009		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40765009A>G	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.524A>G	17.37:g.40765009A>G	ENSP00000251413:p.Gln175Arg						p.Q175R	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	6	586	+		Breast(137;0.00116)	175					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.524A>G	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656633	0.47467	.	.	ENSG00000131462	ENST00000251413	T	0.66995	-0.24	4.81	4.81	0.61882	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.62088	1.915	0.80722	D	1	P	0.42357	0.777	P	0.45099	0.469	T	0.72805	-0.4182	10	0.54805	T	0.06	-2.4999	14.5448	0.68020	1.0:0.0:0.0:0.0	.	175	P23258	TBG1_HUMAN	R	175	ENSP00000251413:Q175R	ENSP00000251413:Q175R	Q	+	2	0	TUBG1	38018535	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	9.137000	0.94496	2.023000	0.59567	0.482000	0.46254	CAG		0.537	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		5	181	0	0	0	1	0	5	181					G	40765009	A	G	40765009	3	3	273	1	0	0	0	0	1	0	0	0	16761	188	7	3	546	3	TUBG1	17	40765009	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	14648338	40765009	40430201	36	29715											
FAM38B	63895	broad.mit.edu	37	chr18	10691360	10691360	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtaccaaagctgggcAaccaggttctggctgaattt	10	9	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr18:10691360A>C	ENST00000503781.3	-	44	6872	c.6873T>G	c.(6871-6873)gtT>gtG	p.V2291V	PIEZO2_ENST00000285141.4_Silent_p.V146V|PIEZO2_ENST00000302079.6_Silent_p.V2291V|PIEZO2_ENST00000580640.1_Silent_p.V2316V|PIEZO2_ENST00000538948.1_Silent_p.V248V	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2291					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)										AAAGCTGGGCAACCAGGTTCT	0.428																																						ENST00000302079.6																			0											c.(6871-6873)gtT>gtG		piezo-type mechanosensitive ion channel component 2							82	74	76					18																	10691360		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10691360A>C	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.6873T>G	18.37:g.10691360A>C						PIEZO2_ENST00000285141.4_Silent_p.V146V|PIEZO2_ENST00000580640.1_Silent_p.V2316V|PIEZO2_ENST00000503781.3_Silent_p.V2291V|PIEZO2_ENST00000538948.1_Silent_p.V248V	p.V2291V			Q9H5I5	PIEZ2_HUMAN			44	6872	-			2291					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.6873T>G																																																																																					0.428	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		4	71	0	0	0	1	0	4	71					C	10691360	A	C	10691360	2	2	273	1	0	0	0	0	0	0	0	1	5555	117	5	5		5	FAM38B	18	10691360	Silent	SNP	A	TCGA-HT-7693-01A-11D-2253-08		10691360	67385888	37	29716											
NLRP5	126206	broad.mit.edu	37	chr19	56539141	56539141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagctcacccctcgaggCgtggtccggcgctgtctcaa	11	16	3	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:56539141C>T	ENST00000390649.3	+	7	1542	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	514	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)		CCCCTCGAGGCGTGGTCCGGC	0.592																																						ENST00000390649.3																			0				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						c.(1540-1542)ggC>ggT		NLR family, pyrin domain containing 5							41	42	42					19																	56539141		2123	4230	6353	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539141C>T	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.1542C>T	19.37:g.56539141C>T							p.G514G	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1542	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	514			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1542C>T	CCDS12938.1																																																																																				0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		14	16	0	0	0	1	0	14	16					T	56539141	C	T	56539141	2	4	273	1	0	0	0	0	0	0	0	1	10480	755	27	1		1	NLRP5	19	56539141	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		56539141	2589842	38	29717											
C20orf117	140710	broad.mit.edu	37	chr20	35445842	35445842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttatcggccttccccaGggagcgggttcctcttttct	9	14	3	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr20:35445842G>A	ENST00000357779.3	-	4	714	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000279034.6_Silent_p.L130L|SOGA1_ENST00000237536.4_Silent_p.L368L			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	130					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						GCCTTCCCCAGGGAGCGGGTT	0.453																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1102-1104)Ctg>Ttg		suppressor of glucose, autophagy associated 1							38	36	37					20																	35445842		1815	4069	5884	SO:0001819	synonymous_variant	140710							g.chr20:35445842G>A	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.388C>T	20.37:g.35445842G>A						SOGA1_ENST00000279034.5_Silent_p.L130L|SOGA1_ENST00000357779.3_Silent_p.L130L	p.L368L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			4	1443	-			130					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1102C>T																																																																																					0.453	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		9	10	0	0	0	1	0	9	10					A	35445842	G	A	35445842	2	1	273	1	0	0	0	0	0	0	0	1	2083	991	35	2		2	C20orf117	20	35445842	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		35445842	27579678	39	29718											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798186	31798186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtgcaagtaacccccGtgggagcaggaggagaagtt	17	7	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:31798186G>A	ENST00000390690.2	-	1	100	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	15						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTAACCCCCGTGGGAGCAGG	0.542																																						ENST00000390690.2																			0				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(43-45)caC>caT		keratin associated protein 13-3							83	86	85					21																	31798186		2203	4300	6503	SO:0001819	synonymous_variant	337960					intermediate filament		g.chr21:31798186G>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"Keratin associated proteins"	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.45C>T	21.37:g.31798186G>A							p.H15H	NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN			1	100	-			15					Q3LI78	Silent	SNP	ENST00000390690.2	37	c.45C>T	CCDS13591.1																																																																																				0.542	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			67	83	0	0	0	1	0	67	83					A	31798186	G	A	31798186	2	1	273	1	0	0	0	0	0	0	0	1	8524	1136	40	1		1	KRTAP13-3	21	31798186	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		31798186	16331709	40	29719											
CELSR1	9620	broad.mit.edu	37	chr22	46793715	46793715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatgttcagggtggcgaCgttggtgggcgtccccccca	15	12	2	0	rs370579193		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr22:46793715C>T	ENST00000262738.3	-	12	5556	c.5557G>A	c.(5557-5559)Gtc>Atc	p.V1853I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1853	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		AGGGTGGCGACGTTGGTGGGC	0.602																																						ENST00000262738.3																			0				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						c.(5557-5559)Gtc>Atc		cadherin, EGF LAG seven-pass G-type receptor 1		C	ILE/VAL	0,4404		0,0,2202	117	71	87		5557	0.6	1	22		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR1	NM_014246.1	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	1853/3015	46793715	1,13003	2202	4300	6502	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46793715C>T	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.5557G>A	22.37:g.46793715C>T	ENSP00000262738:p.Val1853Ile						p.V1853I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	5556	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1853			Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5557G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	4.544	0.100918	0.08731	0.0	1.16E-4	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	3.98	0.547	0.17202	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.309767	0.25897	N	0.027588	T	0.29288	0.0729	N	0.01168	-0.975	0.80722	D	1	B;B	0.24618	0.107;0.006	B;B	0.14578	0.011;0.001	T	0.05468	-1.0883	10	0.12430	T	0.62	.	8.3492	0.32292	0.0:0.3457:0.0:0.6543	.	174;1853	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	I	1853	ENSP00000262738:V1853I	ENSP00000262738:V1853I	V	-	1	0	CELSR1	45172379	0.868000	0.29978	0.984000	0.44739	0.534000	0.34807	0.054000	0.14205	-0.162000	0.10964	-0.339000	0.08088	GTC		0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		14	16	0	0	0	1	0	14	16					T	46793715	C	T	46793715	3	4	273	1	0	0	0	0	1	0	0	0	3221	536	19	1	3583	1	CELSR1	22	46793715	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		46793715	4510851	41	29720											
PAGE1	8712	broad.mit.edu	37	chrX	49455852	49455852	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttaatggactacctacCttctgcgggcagtttcatct	8	11	3	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:49455852C>T	ENST00000376150.3	-	4	424	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	98					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GACTACCTACCTTCTGCGGGC	0.468																																						ENST00000376150.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.e4+1		P antigen family, member 1 (prostate associated)							142	112	122					X																	49455852		2203	4300	6503	SO:0001630	splice_region_variant	8712				cellular defense response			g.chrX:49455852C>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.292+1G>A	X.37:g.49455852C>T							p.G98_splice	NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN			4	424	-	Ovarian(276;0.236)		98					Q6FGM3|Q9BSS7	Splice_Site	SNP	ENST00000376150.3	37	c.292_splice	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.898741	0.33535	.	.	ENSG00000068985	ENST00000376150	T	0.16324	2.35	1.47	1.47	0.22746	.	.	.	.	.	T	0.38904	0.1058	M	0.82323	2.585	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.06991	-1.0796	8	.	.	.	.	5.8786	0.18842	0.0:1.0:0.0:0.0	.	98	O75459	GAGB1_HUMAN	R	98	ENSP00000365320:G98R	.	G	-	1	0	PAGE1	49342556	0.483000	0.25956	0.040000	0.18447	0.049000	0.14656	0.723000	0.25939	1.027000	0.39758	0.462000	0.41574	GGG		0.468	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1		Missense_Mutation	13	52	0	0	0	1	0	13	52					T	49455852	C	T	49455852	5	4	273	1	0	0	0	0	0	0	1	0	11389	695	24	2	160	2	PAGE1	23	49455852	Splice_Site	SNP	C	TCGA-HT-7693-01A-11D-2253-08		49455852	105814708	42	29721											
TSR2	90121	broad.mit.edu	37	chrX	54470611	54470611	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatgtggacagtgtggaagaGatggaggtgaagtgggtgcc	20	3	0	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:54470611G>C	ENST00000375151.4	+	4	456	c.435G>C	c.(433-435)gaG>gaC	p.E145D		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	145					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						GTGTGGAAGAGATGGAGGTGA	0.498																																						ENST00000375151.4																			0				breast(1)|endometrium(3)|lung(2)	6						c.(433-435)gaG>gaC		TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)							108	85	93					X																	54470611		2203	4300	6503	SO:0001583	missense	90121				rRNA processing		protein binding	g.chrX:54470611G>C	BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"WGG motif containing 1"					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.435G>C	X.37:g.54470611G>C	ENSP00000364293:p.Glu145Asp						p.E145D	NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN			4	456	+			145						Missense_Mutation	SNP	ENST00000375151.4	37	c.435G>C	CCDS14358.1	.	.	.	.	.	.	.	.	.	.	g	11.56	1.674565	0.29693	.	.	ENSG00000158526	ENST00000375151	.	.	.	6.07	2.34	0.29019	.	0.371203	0.28140	N	0.016458	T	0.34483	0.0899	L	0.29908	0.895	0.36821	D	0.886386	D	0.56521	0.976	P	0.47603	0.551	T	0.28396	-1.0045	9	0.10111	T	0.7	-23.2551	8.6503	0.34031	0.3245:0.0:0.6755:0.0	.	145	Q969E8	TSR2_HUMAN	D	145	.	ENSP00000364293:E145D	E	+	3	2	TSR2	54487336	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.441000	0.21611	0.295000	0.22570	-0.196000	0.12772	GAG		0.498	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163		65	86	0	0	0	1	0	65	86					C	54470611	G	C	54470611	3	2	273	1	0	0	0	0	1	0	0	0	16662	933	33	4	449	4	TSR2	23	54470611	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	5014759	54470611	100799949	43	29722											
ARHGEF9	23229	broad.mit.edu	37	chrX	62917174	62917174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttctcttccggcactgcTtcagatagccctgtagacaa	7	15	2	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:62917174T>G	ENST00000253401.6	-	4	1192	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						CCGGCACTGCTTCAGATAGCC	0.453																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(391-393)aAg>aCg		Cdc42 guanine nucleotide exchange factor (GEF) 9							75	65	68					X																	62917174		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917174T>G	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.392A>C	X.37:g.62917174T>G	ENSP00000253401:p.Lys131Thr					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T	p.K131T	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			4	1192	-			131			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.392A>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452988	0.43531	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.058413	0.64402	D	0.000002	T	0.54481	0.1861	L	0.41124	1.26	0.48135	D	0.99959	B;B;B	0.23891	0.093;0.093;0.093	B;B;B	0.27380	0.072;0.079;0.05	T	0.50833	-0.8781	10	0.31617	T	0.26	.	13.4906	0.61393	0.0:0.0:0.0:1.0	.	78;129;131	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	T	131;129;78;29;110	ENSP00000253401:K131T;ENSP00000364012:K129T;ENSP00000399994:K78T;ENSP00000364004:K29T;ENSP00000364006:K110T	ENSP00000253401:K131T	K	-	2	0	ARHGEF9	62833899	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.426000	0.59882	1.865000	0.54081	0.417000	0.27973	AAG		0.453	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			4	76	0	0	0	1	0	4	76					G	62917174	T	G	62917174	3	3	273	1	0	0	0	0	1	0	0	0	912	1609	56	5	1186	5	ARHGEF9	23	62917174	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	8446563	62917174	92353386	44	29723											
TAF1	6872	broad.mit.edu	37	chrX	70618475	70618475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagatgcgaaaagaacGgcggaggattcaagagcaac	15	6	1	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:70618475G>A	ENST00000373790.4	+	24	3722	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R1224Q	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	1224					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)			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)				CGAAAAGAACGGCGGAGGATT	0.473																																						ENST00000449580.1																			0				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						c.(3670-3672)cGg>cAg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							89	76	80					X																	70618475		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70618475G>A		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.3671G>A	X.37:g.70618475G>A	ENSP00000362895:p.Arg1224Gln					TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R1224Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q	p.R1224Q			P21675	TAF1_HUMAN			24	3722	+	Renal(35;0.156)	all_lung(315;0.000321)	1224					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3671G>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.661902|5.661902	0.96734|0.96734	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.105596	.|0.64402	.|D	.|0.000005	T|T	0.69904|0.69904	0.3163|0.3163	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.988;0.998	.|P;P;P	.|0.59948	.|0.809;0.57;0.866	T|T	0.72232|0.72232	-0.4353|-0.4353	5|10	.|0.59425	.|D	.|0.04	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1224;1224;1245	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	S|Q	135|1224;1224;1245;1245	.|ENSP00000362895:R1224Q;ENSP00000389000:R1224Q;ENSP00000406549:R1245Q;ENSP00000276072:R1245Q	.|ENSP00000276072:R1245Q	G|R	+|+	1|2	0|0	TAF1|TAF1	70535200|70535200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.473000|9.473000	0.97714|0.97714	2.321000|2.321000	0.78463|0.78463	0.468000|0.468000	0.43344|0.43344	GGC|CGG		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		24	34	0	0	0	1	0	24	34					A	70618475	G	A	70618475	3	1	273	1	0	0	0	0	1	0	0	0	15510	1116	39	1	3828	1	TAF1	23	70618475	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	7701301	70618475	84652085	45	29724											
ATRX	546	broad.mit.edu	37	chrX	76813058	76813058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgctgctgatcaacaactCgaaaagacagtgactgctta	8	11	1	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:76813058C>T	ENST00000373344.5	-	30	6777	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2188	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						ATCAACAACTCGAAAAGACAG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6562-6564)cGa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						143	130	135					X																	76813058		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813058C>T	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.6563G>A	X.37:g.76813058C>T	ENSP00000362441:p.Arg2188Gln					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q	p.R2188Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6777	-			2188			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6563G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253862	0.80135	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.91945	-2.94;-2.94	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.95004	0.8383	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.95483	0.8562	10	0.87932	D	0	-4.7575	18.5479	0.91054	0.0:1.0:0.0:0.0	.	2150;2188	P46100-4;P46100	.;ATRX_HUMAN	Q	2188;2150	ENSP00000362441:R2188Q;ENSP00000378967:R2150Q	ENSP00000362441:R2188Q	R	-	2	0	ATRX	76699714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.323000	0.78572	0.600000	0.82982	CGA		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		53	59	0	0	0	1	0	53	59					T	76813058	C	T	76813058	3	4	273	1	0	0	0	0	1	0	0	0	1208	884	31	1	939	1	ATRX	23	76813058	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6194583	76813058	78457502	46	29725											
HDX	139324	broad.mit.edu	37	chrX	83723854	83723854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccattgcaatggacaaacAatttccttctgctgagctag	7	11	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:83723854A>G	ENST00000297977.5	-	3	988	c.877T>C	c.(877-879)Tgt>Cgt	p.C293R	HDX_ENST00000506585.2_Missense_Mutation_p.C235R|HDX_ENST00000373177.2_Missense_Mutation_p.C293R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	293						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGGACAAACAATTTCCTTCT	0.473																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(877-879)Tgt>Cgt		highly divergent homeobox							117	103	108					X																	83723854		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723854A>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.877T>C	X.37:g.83723854A>G	ENSP00000297977:p.Cys293Arg					HDX_ENST00000506585.2_Missense_Mutation_p.C235R|HDX_ENST00000373177.2_Missense_Mutation_p.C293R	p.C293R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	988	-			293					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.877T>C	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.246894	0.22796	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.31769	1.5;1.48;1.5	4.94	4.94	0.65067	.	0.239138	0.43747	D	0.000532	T	0.27134	0.0665	L	0.43152	1.355	0.58432	D	0.999992	P	0.37015	0.578	B	0.33042	0.157	T	0.09684	-1.0663	10	0.72032	D	0.01	-19.276	13.9638	0.64196	1.0:0.0:0.0:0.0	.	293	Q7Z353	HDX_HUMAN	R	293;235;293	ENSP00000297977:C293R;ENSP00000362272:C235R;ENSP00000423670:C293R	ENSP00000297977:C293R	C	-	1	0	HDX	83610510	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	4.438000	0.59961	1.743000	0.51761	0.345000	0.21793	TGT		0.473	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		9	121	0	0	0	1	0	9	121					G	83723854	A	G	83723854	3	3	273	1	0	0	0	0	1	0	0	0	7026	130	5	3	1227	3	HDX	23	83723854	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6910796	83723854	71546706	47	29726											
ALG13	79868	broad.mit.edu	37	chrX	110952273	110952273	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaacaaacttttgaGtctgtaagtagaatacatac	6	6	2	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:110952273G>C	ENST00000394780.3	+	5	843	c.831G>C	c.(829-831)gaG>gaC	p.E277D	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.E173D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	277	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				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						AAACTTTTGAGTCTGTAAGTA	0.388																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(829-831)gaG>gaC		ALG13, UDP-N-acetylglucosaminyltransferase subunit							92	75	80					X																	110952273		1567	3577	5144	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110952273G>C	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.831G>C	X.37:g.110952273G>C	ENSP00000378260:p.Glu277Asp					ALG13_ENST00000251943.4_Missense_Mutation_p.E173D|ALG13-AS1_ENST00000430794.1_RNA	p.E277D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			5	843	+			277			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.831G>C	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086733	0.76642	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.33654	1.4;1.4;1.4	5.41	1.66	0.24008	Ovarian tumour, otubain (2);	0.000000	0.64402	U	0.000020	T	0.57592	0.2064	M	0.87269	2.87	0.34799	D	0.73656	D;D;D	0.63046	0.99;0.992;0.99	P;D;P	0.63488	0.861;0.915;0.861	T	0.68322	-0.5439	10	0.72032	D	0.01	-9.3363	9.0041	0.36100	0.412:0.0:0.588:0.0	.	199;277;173	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	173;277;173	ENSP00000251943:E173D;ENSP00000378260:E277D;ENSP00000427093:E173D	ENSP00000251943:E173D	E	+	3	2	ALG13	110838929	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.402000	0.20965	0.222000	0.20900	0.600000	0.82982	GAG		0.388	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		3	7	0	0	0	1	0	3	7					C	110952273	G	C	110952273	3	2	273	1	0	0	0	0	1	0	0	0	515	1020	36	4	991	4	ALG13	23	110952273	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27228419	110952273	44318287	48	29727											
MMGT1	93380	broad.mit.edu	37	chrX	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagaatttgctgtatccGaaggccggaaaagtactcga	11	7	0	2	rs150859420		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:135047268G>A	ENST00000305963.2	-	4	698	c.311C>T	c.(310-312)tCg>tTg	p.S104L	MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	104					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						TGCTGTATCCGAAGGCCGGAA	0.358																																						ENST00000305963.2																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(310-312)tCg>tTg		membrane magnesium transporter 1		G	LEU/SER	1,3834		0,1,1631,571	190	176	181		311	4.8	1	X	dbSNP_134	181	1,6727		0,1,2427,1872	yes	missense	MMGT1	NM_173470.1	145	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189	possibly-damaging	104/132	135047268	2,10561	2203	4300	6503	SO:0001583	missense	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135047268G>A	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"ER membrane protein complex subunit 5"		"transmembrane protein 32"	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.311C>T	X.37:g.135047268G>A	ENSP00000306220:p.Ser104Leu					MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L	p.S104L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN			4	698	-			104					B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	c.311C>T	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176274	0.78564	2.61E-4	1.49E-4	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.67	4.81	0.61882	.	0.113599	0.64402	D	0.000013	T	0.45518	0.1346	N	0.14661	0.345	0.34242	D	0.677799	D;P	0.76494	0.999;0.553	P;B	0.61940	0.896;0.043	T	0.49360	-0.8948	9	0.10111	T	0.7	.	14.9912	0.71390	0.0:0.139:0.861:0.0	.	169;104	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	L	104;169	.	ENSP00000306220:S104L	S	-	2	0	MMGT1	134874934	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	7.352000	0.79404	1.264000	0.44198	0.600000	0.82982	TCG		0.358	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		31	213	0	0	0	1	0	31	213					A	135047268	G	A	135047268	3	1	273	1	0	0	0	0	1	0	0	0	9647	1059	37	1	88	1	MMGT1	23	135047268	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	24094995	135047268	20223292	49	29728											
AFF2	2334	broad.mit.edu	37	chrX	148035253	148035253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatctaatgaggcacctcGtgtggcaactccagaggtga	12	10	1	3	rs369100046		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:148035253G>A	ENST00000370460.2	+	10	2020	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	AFF2_ENST00000286437.5_Missense_Mutation_p.R155H|AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	514					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCTCGTGTGGCAACT	0.567																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1540-1542)cGt>cAt		AF4/FMR2 family, member 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,0,1,1632,570	104	96	99		1442,1511,1436,1424,464,1541	4.2	0.9	X		99	0,6728		0,0,0,2428,1872	no	missense,missense,missense,missense,missense,missense	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	29,29,29,29,29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	481/1277,504/1302,479/1277,475/1273,155/953,514/1312	148035253	1,10562	2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035253G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1541G>A	X.37:g.148035253G>A	ENSP00000359489:p.Arg514His					AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H|AFF2_ENST00000286437.5_Missense_Mutation_p.R155H	p.R514H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			10	2020	+	Acute lymphoblastic leukemia(192;6.56e-05)		514					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1541G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118873	0.56505	2.61E-4	0.0	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.12	4.24	0.50183	.	0.060464	0.64402	D	0.000005	T	0.69369	0.3103	L	0.41027	1.25	0.51767	D	0.999932	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	0.69824	0.966;0.942;0.942;0.942;0.942;0.966	T	0.65825	-0.6074	10	0.28530	T	0.3	.	14.3204	0.66482	0.0:0.0:0.8505:0.1495	.	155;479;481;475;504;514	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	514;481;481;155	ENSP00000359489:R514H;ENSP00000359486:R481H;ENSP00000345459:R481H;ENSP00000286437:R155H	ENSP00000286437:R155H	R	+	2	0	AFF2	147842953	0.997000	0.39634	0.851000	0.33527	0.893000	0.52053	3.371000	0.52379	1.020000	0.39573	0.600000	0.82982	CGT		0.567	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		75	100	0	0	0	1	0	75	100					A	148035253	G	A	148035253	3	1	273	1	0	0	0	0	1	0	0	0	357	1145	40	1	1634	1	AFF2	23	148035253	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	12987985	148035253	7235307	50	29729											
F8	2157	broad.mit.edu	37	chrX	154159216	154159216	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaggtccaccagacTcagtaaggggagatgacttt	12	9	2	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154159216T>C	ENST00000360256.4	-	14	3049	c.2849A>G	c.(2848-2850)gAg>gGg	p.E950G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	950	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACCAGACTCAGTAAGGGG	0.373																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(2848-2850)gAg>gGg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						76	76	76					X																	154159216		2202	4299	6501	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159216T>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2849A>G	X.37:g.154159216T>C	ENSP00000353393:p.Glu950Gly						p.E950G	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3049	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		950			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2849A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	1.436	-0.568944	0.03910	.	.	ENSG00000185010	ENST00000360256	D	0.99080	-5.4	5.19	-2.98	0.05513	.	0.758830	0.12399	N	0.472309	D	0.93618	0.7962	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.89639	0.3861	10	0.24483	T	0.36	-0.0338	5.6023	0.17361	0.1526:0.2277:0.0:0.6197	.	950	P00451	FA8_HUMAN	G	950	ENSP00000353393:E950G	ENSP00000353393:E950G	E	-	2	0	F8	153812410	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.279000	0.08479	-0.264000	0.09365	-0.377000	0.06932	GAG		0.373	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	110	0	0	0	1	0	5	110					C	154159216	T	C	154159216	3	2	273	1	0	0	0	0	1	0	0	0	5350	1551	54	3	4286	3	F8	23	154159216	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	6123963	154159216	1111344	51	29730											
F8	2157	broad.mit.edu	37	chrX	154250803	154250803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaaaaggcacagaaagaAgcaggtggagagctctattt	12	7	1	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154250803A>G	ENST00000360256.4	-	1	225	c.25T>C	c.(25-27)Ttc>Ctc	p.F9L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	9					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACAGAAAGAAGCAGGTGGAG	0.433																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(25-27)Ttc>Ctc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						167	143	151					X																	154250803		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154250803A>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.25T>C	X.37:g.154250803A>G	ENSP00000353393:p.Phe9Leu						p.F9L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			1	225	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		9					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.25T>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522273	0.27211	.	.	ENSG00000185010	ENST00000360256	D	0.98987	-5.3	5.18	2.72	0.32119	.	0.547442	0.20457	N	0.091973	D	0.95943	0.8679	L	0.43923	1.385	0.26021	N	0.981863	B	0.12013	0.005	B	0.12156	0.007	D	0.88036	0.2778	10	0.12103	T	0.63	-1.5335	3.9911	0.09537	0.7135:0.0:0.1013:0.1852	.	9	P00451	FA8_HUMAN	L	9	ENSP00000353393:F9L	ENSP00000353393:F9L	F	-	1	0	F8	153903997	1.000000	0.71417	0.773000	0.31616	0.313000	0.28021	0.716000	0.25836	0.235000	0.21160	0.430000	0.28490	TTC		0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			3	129	0	0	0	1	0	3	129					G	154250803	A	G	154250803	3	3	273	1	0	0	0	0	1	0	0	0	5350	72	3	3	7162	3	F8	23	154250803	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	91587	154250803	1019757	52	29731											
EIF2C1	26523	broad.mit.edu	37	chr1	36359738	36359739	+	Frame_Shift_Del	DEL	CT	CT	-													cagcccaagcccctcacggaCtctcagcgcgttcgcttcac							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:36359738_36359739delCT	ENST00000373204.4	+	6	963_964	c.750_751delCT	c.(748-753)gactctfs	p.S251fs	AGO1_ENST00000373206.1_Frame_Shift_Del_p.S176fs	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	251	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCCTCACGGACTCTCAGCGCGT	0.55																																						ENST00000373204.4																			0											c.(748-753)gactfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36359738_36359739delCT	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.750_751delCT	1.37:g.36359740_36359741delCT	ENSP00000362300:p.Ser251fs					AGO1_ENST00000373206.1_Frame_Shift_Del_p.DS175fs	p.DS250fs	NM_012199.2	NP_036331.1					6	963_964	+								Q5TA57|Q6P4S0	Frame_Shift_Del	DEL	ENST00000373204.4	37	c.750_751delCT	CCDS398.1																																																																																				0.55	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			11	49						11	49	---	---	---	---	-	36359739	CT	-	36359738	7	5	274	1	0	1	0	1	0	0	0	0	5005	564	20	0	772	0	EIF2C1	1	36359738	Frame_Shift_Del	DEL	CT	TCGA-HT-7694-01A-11D-2253-08		36359738	212890883	1	29732											
FUBP1	8880	broad.mit.edu	37	chr1	78422330	78422331	+	Frame_Shift_Del	DEL	AT	AT	-													ggctgtgcttgctgttgataAtagtgagcgtaataagcagc							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:78422330_78422331delAT	ENST00000370768.2	-	17	1712_1713	c.1631_1632delAT	c.(1630-1632)tatfs	p.Y545fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.Y545fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	545	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGTTGATAATAGTGAGCGTA	0.431			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1630-1632)tfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422330_78422331delAT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1631_1632delAT	1.37:g.78422330_78422331delAT	ENSP00000359804:p.Tyr545fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y545fs	p.Y545fs			Q96AE4	FUBP1_HUMAN			17	1718_1719	-			545			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1631_1632delAT	CCDS683.1																																																																																				0.431	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		36	74						36	74	---	---	---	---	-	78422331	AT	-	78422330	7	5	274	1	0	1	0	1	0	0	0	0	6092	108	4	0	318	0	FUBP1	1	78422330	Frame_Shift_Del	DEL	AT	TCGA-HT-7694-01A-11D-2253-08	42062592	78422330	170828291	2	29733											
ELTD1	64123	broad.mit.edu	37	chr1	79383689	79383689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcacatccatgcaaaagcaGctaaaaagaagtagtgtagc	9	8	0	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:79383689G>C	ENST00000370742.3	-	11	1571	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	503					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)		TGCAAAAGCAGCTAAAAAGAA	0.333																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1507-1509)gCt>gGt		EGF, latrophilin and seven transmembrane domain containing 1							125	118	120					1																	79383689		1885	4114	5999	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383689G>C	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.1508C>G	1.37:g.79383689G>C	ENSP00000359778:p.Ala503Gly						p.A503G	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1571	-			503					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1508C>G	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130941	0.94473	.	.	ENSG00000162618	ENST00000370742	T	0.50813	0.73	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68405	-0.5417	9	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	503	Q9HBW9	ELTD1_HUMAN	G	503	ENSP00000359778:A503G	.	A	-	2	0	ELTD1	79156277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GCT		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		13	102	0	0	0	1	0	13	102					C	79383689	G	C	79383689	3	2	274	1	0	0	0	0	1	0	0	0	5084	971	34	4	584	4	ELTD1	1	79383689	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	961359	79383689	169866932	3	29734											
NBPF9	400818	broad.mit.edu	37	chr1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatataaagtcctggttcacGctcaggaacgagagctgacc	10	10	2	2	rs202229831	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	372						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													.|||	28	0.00559105	0.0174	0.0029	5008	,	,		21849	0.001		0.002	False		,,,				2504	0.0					ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(340-342)Gct>Tct		neuroblastoma breakpoint family, member 9							74	58	63					1																	144814702		692	1588	2280	SO:0001583	missense	400818							g.chr1:144814702G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.340G>T	1.37:g.144814702G>T	ENSP00000390934:p.Ala114Ser					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	p.A114S	NM_001037675.2	NP_001032764.1					3	340	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.251443	0.00022	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.03468	3.92;3.94	0.618	-1.24	0.09435	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.49995	-0.8879	8	0.02654	T	1	.	6.752	0.23491	0.1656:0.0:0.6575:0.177	.	372;112	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	S	114	ENSP00000342975:A114S;ENSP00000390934:A114S	ENSP00000342975:A114S	A	+	1	0	NBPF9	143526059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-4.662000	0.00037	-3.692000	0.00024	GCT		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		5	185	1	0	0.0215528	1	0.0229285	5	185					T	144814702	G	T	144814702	3	4	274	1	0	0	0	0	1	0	0	0	10199	1087	38	4	1142	4	NBPF9	1	144814702	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	65431013	144814702	104435919	4	29735											
CFH	3075	broad.mit.edu	37	chr1	196694339	196694341	+	In_Frame_Del	DEL	CTC	CTC	-													gttggagaggtgttgaaattCtcctgcaaaccaggatttac							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:196694339_196694341delCTC	ENST00000367429.4	+	12	2025_2027	c.1785_1787delCTC	c.(1783-1788)ttctcc>ttc	p.S596del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	596	Sushi 10. {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						TGTTGAAATTCTCCTGCAAACCA	0.394																																						ENST00000367429.4																			0				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						c.(1783-1788)ttc>tt		complement factor H																																				SO:0001651	inframe_deletion	3075				complement activation, alternative pathway	extracellular space		g.chr1:196694339_196694341delCTC	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.1785_1787delCTC	1.37:g.196694339_196694341delCTC	ENSP00000356399:p.Ser596del						p.FS595del	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			12	2025_2027	+			595			Sushi 10.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	In_Frame_Del	DEL	ENST00000367429.4	37	c.1785_1787delCTC	CCDS1385.1																																																																																				0.394	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		24	99						24	99	---	---	---	---	-	196694341	CTC	-	196694339	7	5	274	1	0	1	0	1	0	0	0	0	3283	912	32	0	1849	0	CFH	1	196694339	In_Frame_Del	DEL	CTC	TCGA-HT-7694-01A-11D-2253-08	51879637	196694339	52556282	5	29736											
RNF144A	9781	broad.mit.edu	37	chr2	7164513	7164513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtgctgctttcaaaAtggaagaagatgacgcgccc	10	12	1	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:7164513A>G	ENST00000320892.6	+	7	965	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	175					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCTTTCAAAATGGAAGAAGA	0.567																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(523-525)Atg>Gtg		ring finger protein 144A							78	73	75					2																	7164513		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7164513A>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.523A>G	2.37:g.7164513A>G	ENSP00000321330:p.Met175Val					RNF144A_ENST00000467276.1_3'UTR	p.M175V	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	7	965	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	175					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.523A>G	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	A	8.581	0.882374	0.17467	.	.	ENSG00000151692	ENST00000320892;ENST00000427092	T	0.62105	0.05	5.87	0.397	0.16314	Zinc finger, C6HC-type (1);	0.700705	0.15567	N	0.255623	T	0.37758	0.1015	N	0.12471	0.22	0.22819	N	0.998696	B	0.02656	0.0	B	0.04013	0.001	T	0.19095	-1.0316	10	0.13108	T	0.6	.	10.3336	0.43837	0.7343:0.1869:0.0788:0.0	.	175	P50876	R144A_HUMAN	V	175	ENSP00000321330:M175V	ENSP00000321330:M175V	M	+	1	0	RNF144A	7081964	1.000000	0.71417	0.321000	0.25320	0.865000	0.49528	1.374000	0.34283	-0.170000	0.10816	0.533000	0.62120	ATG		0.567	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		20	65	0	0	0	1	0	20	65					G	7164513	A	G	7164513	3	3	274	1	0	0	0	0	1	0	0	0	13445	101	4	3	541	3	RNF144A	2	7164513	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		7164513	236034860	6	29737											
NBAS	51594	broad.mit.edu	37	chr2	15523366	15523366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcagaatctagacaTgtgtatacattctgctgcat	8	9	3	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:15523366T>C	ENST00000281513.5	-	29	3358	c.3333A>G	c.(3331-3333)acA>acG	p.T1111T	NBAS_ENST00000441750.1_Silent_p.T991T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1111					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						AATCTAGACATGTGTATACAT	0.348																																						ENST00000281513.5																			0				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						c.(3331-3333)acA>acG		neuroblastoma amplified sequence							94	93	93					2																	15523366		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15523366T>C	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.3333A>G	2.37:g.15523366T>C						NBAS_ENST00000441750.1_Silent_p.T991T	p.T1111T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			29	3358	-			1111					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.3333A>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	6.860	0.527955	0.13127	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.89	-11.8	0.00035	.	.	.	.	.	T	0.54695	0.1874	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68205	-0.5470	4	.	.	.	.	12.7384	0.57238	0.0:0.2083:0.4937:0.298	.	.	.	.	R	159	.	.	H	-	2	0	NBAS	15440817	0.000000	0.05858	0.067000	0.19924	0.741000	0.42261	-6.140000	0.00079	-2.496000	0.00513	0.460000	0.39030	CAT		0.348	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		30	90	0	0	0	1	0	30	90					C	15523366	T	C	15523366	2	2	274	1	0	0	0	0	0	0	0	1	10186	1451	51	3		3	NBAS	2	15523366	Silent	SNP	T	TCGA-HT-7694-01A-11D-2253-08	8358853	15523366	227676007	7	29738											
APOB	338	broad.mit.edu	37	chr2	21230343	21230343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaaggtagacgcatttcagGaattgttaaaggaatgttta	11	3	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:21230343G>A	ENST00000233242.1	-	26	9524	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3133					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)					CGCATTTCAGGAATTGTTAAA	0.373																																						ENST00000233242.1																			0				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						c.(9397-9399)Cct>Tct		apolipoprotein B	Atorvastatin(DB01076)						110	114	113					2																	21230343		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230343G>A	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.9397C>T	2.37:g.21230343G>A	ENSP00000233242:p.Pro3133Ser						p.P3133S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9524	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3133					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9397C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245519	0.80024	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.43294	0.95	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000006	T	0.73401	0.3582	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77960	-0.2391	10	0.87932	D	0	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	3133	P04114	APOB_HUMAN	S	3133	ENSP00000233242:P3133S	ENSP00000233242:P3133S	P	-	1	0	APOB	21083848	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.804000	0.99143	2.780000	0.95670	0.655000	0.94253	CCT		0.373	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			34	119	0	0	0	1	0	34	119					A	21230343	G	A	21230343	3	1	274	1	0	0	0	0	1	0	0	0	785	1174	41	2	4310	2	APOB	2	21230343	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	5706977	21230343	221969030	8	29739											
PTCD3	55037	broad.mit.edu	37	chr2	86355071	86355074	+	Frame_Shift_Del	DEL	GCTT	GCTT	-													ctggtaatttgagaaccctcGcttgcaacatatcaccatat					rs189849692	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:86355071_86355074delGCTT	ENST00000254630.7	+	14	1170_1173	c.1104_1107delGCTT	c.(1102-1107)tcgcttfs	p.SL368fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACATATC	0.333																																						ENST00000254630.7																			0				NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						c.(1102-1107)tcfs		pentatricopeptide repeat domain 3																																				SO:0001589	frameshift_variant	55037					mitochondrion	protein binding	g.chr2:86355071_86355074delGCTT		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1104_1107delGCTT	2.37:g.86355071_86355074delGCTT	ENSP00000254630:p.Ser368fs						p.SL368fs	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN			14	1170_1173	+			368					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Frame_Shift_Del	DEL	ENST00000254630.7	37	c.1104_1107delGCTT	CCDS33235.1																																																																																				0.333	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		23	189						23	189	---	---	---	---	-	86355074	GCTT	-	86355071	7	5	274	1	0	1	0	1	0	0	0	0	12729	1074	38	0	1158	0	PTCD3	2	86355071	Frame_Shift_Del	DEL	GCTT	TCGA-HT-7694-01A-11D-2253-08	65124728	86355071	156844302	9	29740											
IL1RL2	8808	broad.mit.edu	37	chr2	102808543	102808543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgtcatctgcacttccCgaagagttgtgttttgggtc	10	10	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:102808543C>T	ENST00000264257.2	+	4	578	c.452C>T	c.(451-453)cCg>cTg	p.P151L	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	151	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.P151Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTGCACTTCCCGAAGAGTTGT	0.328																																						ENST00000264257.2																			1	Substitution - Missense(1)	p.P151Q(1)	lung(1)	breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(451-453)cCg>cTg		interleukin 1 receptor-like 2							94	90	92					2																	102808543		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102808543C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.452C>T	2.37:g.102808543C>T	ENSP00000264257:p.Pro151Leu					IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L|IL1RL2_ENST00000481806.1_Intron	p.P151L	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			4	578	+			151			Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.452C>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	8.827	0.939025	0.18281	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.76448	-1.02;1.55;-1.02	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.163640	0.01589	N	0.021473	T	0.78387	0.4275	M	0.78344	2.41	0.48571	D	0.999675	P	0.37663	0.604	B	0.28784	0.094	T	0.64728	-0.6339	10	0.11485	T	0.65	.	15.0204	0.71627	0.0:1.0:0.0:0.0	.	151	Q9HB29	ILRL2_HUMAN	L	151	ENSP00000264257:P151L;ENSP00000387611:P151L;ENSP00000442184:P151L	ENSP00000264257:P151L	P	+	2	0	IL1RL2	102174975	0.983000	0.35010	0.850000	0.33497	0.016000	0.09150	3.439000	0.52878	2.692000	0.91855	0.655000	0.94253	CCG		0.328	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		3	78	0	0	0	1	0	3	78					T	102808543	C	T	102808543	3	4	274	1	0	0	0	0	1	0	0	0	7664	652	23	1	462	1	IL1RL2	2	102808543	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	16453472	102808543	140390830	10	29741											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	88	0	0	0	1	0	27	88					T	209113112	C	T	209113112	3	4	274	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	106304569	209113112	34086261	11	29742											
TRIP12	9320	broad.mit.edu	37	chr2	230723871	230723871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagcttggtaggtttcGcagatctctcttctgcacca	9	12	3	1	rs374836613		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:230723871G>A	ENST00000283943.5	-	3	696	c.518C>T	c.(517-519)gCg>gTg	p.A173V	TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	173					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)		GGTAGGTTTCGCAGATCTCTC	0.507																																						ENST00000283943.5																			0				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						c.(517-519)gCg>gTg		thyroid hormone receptor interactor 12		G	VAL/ALA	0,4406		0,0,2203	59	57	58		518	4.8	1	2		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	173/1993	230723871	1,13005	2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230723871G>A	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.518C>T	2.37:g.230723871G>A	ENSP00000283943:p.Ala173Val					TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V	p.A173V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	696	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	173					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.518C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289683	0.59976	0.0	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	T;T	0.51325	0.71;0.82	5.71	4.84	0.62591	.	0.051005	0.85682	D	0.000000	T	0.28962	0.0719	N	0.08118	0	0.51482	D	0.999927	B;B;B	0.23249	0.002;0.082;0.002	B;B;B	0.21151	0.001;0.033;0.001	T	0.05886	-1.0858	10	0.29301	T	0.29	.	14.674	0.68964	0.0696:0.0:0.9304:0.0	.	173;215;173	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	173;215;215;215;43	ENSP00000283943:A173V;ENSP00000373696:A215V	ENSP00000283943:A173V	A	-	2	0	TRIP12	230432115	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.350000	0.73017	1.429000	0.47314	-0.259000	0.10710	GCG		0.507	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		17	45	0	0	0	1	0	17	45					A	230723871	G	A	230723871	3	1	274	1	0	0	0	0	1	0	0	0	16553	1087	38	1	5616	1	TRIP12	2	230723871	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	21610759	230723871	12475502	12	29743											
RAF1	5894	broad.mit.edu	37	chr3	12653552	12653552	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagctcattccatttcGcacattgacctacaaacaaa	4	12	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:12653552G>A	ENST00000251849.4	-	3	656	c.217C>T	c.(217-219)Cga>Tga	p.R73*	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000534997.1_5'Flank|RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73*	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	73	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|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)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATTCCATTTCGCACATTGACC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(217-219)Cga>Tga		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						140	123	128					3																	12653552		2203	4300	6503	SO:0001587	stop_gained	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12653552G>A	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.217C>T	3.37:g.12653552G>A	ENSP00000251849:p.Arg73*					RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73*	p.R73*	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			3	656	-			73			RBD.		B0LPH8|B2R5N3|Q15278|Q9UC20	Nonsense_Mutation	SNP	ENST00000251849.4	37	c.217C>T	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	40	8.319998	0.98759	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	.	.	.	5.74	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1332	0.72542	0.0:0.0:0.7415:0.2585	.	.	.	.	X	73	.	ENSP00000251849:R73X	R	-	1	2	RAF1	12628552	1.000000	0.71417	0.988000	0.46212	0.751000	0.42716	4.542000	0.60677	0.760000	0.33108	-0.414000	0.06135	CGA		0.498	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		5	109	0	0	0	1	0	5	109					A	12653552	G	A	12653552	4	1	274	1	0	0	0	0	0	1	0	0	13002	1095	38	1	1789	1	RAF1	3	12653552	Nonsense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		12653552	185368878	13	29744											
FBLN2	2199	broad.mit.edu	37	chr3	13679124	13679124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcgccagcgcgcatcaCgcactaccagctcaacttcc	7	18	2	0	rs199626220		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:13679124C>T	ENST00000295760.7	+	17	3329	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000404922.3_Missense_Mutation_p.T1134M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1087	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCGCATCACGCACTACCAG	0.657																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3400-3402)aCg>aTg		fibulin 2							43	47	46					3																	13679124		2183	4280	6463	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679124C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3260C>T	3.37:g.13679124C>T	ENSP00000295760:p.Thr1087Met					FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M|FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1087M	p.T1134M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3520	+			1087			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3401C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626984	0.46840	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80214	-1.35;-1.34;-1.26;-1.34	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.83603	2.65	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.90804	0.4696	10	0.87932	D	0	.	13.2007	0.59765	0.0:0.9233:0.0:0.0767	.	1087;1134;1113	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	M	1113;1134;1087;1134	ENSP00000445705:T1113M;ENSP00000384169:T1134M;ENSP00000295760:T1087M;ENSP00000420042:T1134M	ENSP00000295760:T1087M	T	+	2	0	FBLN2	13654125	1.000000	0.71417	0.847000	0.33407	0.019000	0.09904	7.584000	0.82572	1.282000	0.44496	-0.136000	0.14681	ACG		0.657	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		7	81	0	0	0	1	0	7	81					T	13679124	C	T	13679124	3	4	274	1	0	0	0	0	1	0	0	0	5699	536	19	1	2157	1	FBLN2	3	13679124	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1025572	13679124	184343306	14	29745											
C3orf35	339883	broad.mit.edu	37	chr3	37458938	37458938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagatgggcctgcagggcAgtgctcagcatttcaacatc	12	11	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:37458938A>G	ENST00000328376.5	+	5	1160	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	61						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGCAGGGCAGTGCTCAGCA	0.463																																						ENST00000328376.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(181-183)Agt>Ggt		chromosome 3 open reading frame 35							117	113	114					3																	37458938		1902	4110	6012	SO:0001583	missense	339883					integral to membrane		g.chr3:37458938A>G	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"AP20 region protein", "APRG1 tumor suppressor candidate"	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.181A>G	3.37:g.37458938A>G	ENSP00000331625:p.Ser61Gly					C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G	p.S61G	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN			5	1160	+			61					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.181A>G	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089165	0.20390	.	.	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.54071	0.59	3.32	2.13	0.27403	.	.	.	.	.	T	0.27798	0.0684	N	0.08118	0	0.19575	N	0.999963	B;P	0.45474	0.386;0.859	B;B	0.38755	0.086;0.281	T	0.07578	-1.0765	9	0.52906	T	0.07	.	5.4976	0.16811	0.7055:0.0:0.0:0.2945	.	61;61	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	G	61	ENSP00000331625:S61G	ENSP00000331625:S61G	S	+	1	0	C3orf35	37433942	0.001000	0.12720	0.625000	0.29200	0.917000	0.54804	-0.141000	0.10327	0.627000	0.30340	0.460000	0.39030	AGT		0.463	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		26	77	0	0	0	1	0	26	77					G	37458938	A	G	37458938	3	3	274	1	0	0	0	0	1	0	0	0	2225	188	7	3	183	3	C3orf35	3	37458938	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	23779814	37458938	160563492	15	29746											
MYD88	30	broad.mit.edu	37	chr3	38180395	38180395	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaactggagacacaagcGgaccccactggcaggctgct	13	14	0	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:38180395G>A	ENST00000333167.8	-	0	0				ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A|ACAA1_ENST00000544624.1_5'Flank|MYD88_ENST00000417037.2_Silent_p.A81A|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000396334.3_Silent_p.A81A|MYD88_ENST00000443433.2_Silent_p.A81A|ACAA1_ENST00000444607.2_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGACACAAGCGGACCCCACTG	0.657																																						ENST00000417037.2										Mis							ABC-DLBCL		0				breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(241-243)gcG>gcA		myeloid differentiation primary response 88							49	58	55					3																	38180395		2203	4300	6503	SO:0001631	upstream_gene_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38180395G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38180395G>A	Exception_encountered					MYD88_ENST00000443433.2_Silent_p.A81A|MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000396334.3_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A	p.A81A	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	427	+			68			Death.		G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	c.243G>A	CCDS2673.1																																																																																				0.657	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		3	92	0	0	0	1	0	3	92					A	38180395	G	A	38180395	1	1	274	0	1	0	0	0	0	0	0	0	10023	1103	39	1		1	MYD88	3	38180395	5'Flank	SNP	G	TCGA-HT-7694-01A-11D-2253-08	721457	38180395	159842035	16	29747											
RFT1	91869	broad.mit.edu	37	chr3	53126463	53126463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcaggccagccaggggCctgtgggggctccttcggta	18	11	0	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:53126463C>T	ENST00000296292.3	-	12	1441	c.1380G>A	c.(1378-1380)agG>agA	p.R460R	RFT1_ENST00000394738.3_Silent_p.R421R|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	460					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)		CAGCCAGGGGCCTGTGGGGGC	0.592																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.(1378-1380)agG>agA		RFT1 homolog (S. cerevisiae)							37	39	39					3																	53126463		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53126463C>T	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.1380G>A	3.37:g.53126463C>T						RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Silent_p.R421R	p.R460R	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		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)	12	1441	-			460					Q96J03	Silent	SNP	ENST00000296292.3	37	c.1380G>A	CCDS2869.1																																																																																				0.592	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		6	10	0	0	0	1	0	6	10					T	53126463	C	T	53126463	2	4	274	1	0	0	0	0	0	0	0	1	13257	738	26	2		2	RFT1	3	53126463	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	14946068	53126463	144895967	17	29748											
TMEM14E	645843	broad.mit.edu	37	chr3	152058574	152058574	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaagaagaatccagcAgaaggggactggacagaacc	12	9	1	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:152058574A>G	ENST00000408960.3	-	1	205	c.120T>C	c.(118-120)tcT>tcC	p.S40S	MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000463374.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	40						integral component of membrane (GO:0016021)				lung(1)	1						AGAATCCAGCAGAAGGGGACT	0.488																																						ENST00000408960.3																			0				lung(1)	1						c.(118-120)tcT>tcC		transmembrane protein 14E							87	79	82					3																	152058574		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058574A>G		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.120T>C	3.37:g.152058574A>G						MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Intron	p.S40S	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN			1	205	-			40						Silent	SNP	ENST00000408960.3	37	c.120T>C	CCDS43161.1																																																																																				0.488	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		21	79	0	0	0	1	0	21	79					G	152058574	A	G	152058574	2	3	274	1	0	0	0	0	0	0	0	1	16063	175	7	3		3	TMEM14E	3	152058574	Silent	SNP	A	TCGA-HT-7694-01A-11D-2253-08	98932111	152058574	45963856	18	29749											
ACTL6A	86	broad.mit.edu	37	chr3	179301185	179301186	+	Frame_Shift_Del	DEL	AC	AC	-													gcaggaggaaacacactaatAcagagttttactgacaggtt							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:179301185_179301186delAC	ENST00000429709.2	+	12	1284_1285	c.1071_1072delAC	c.(1069-1074)atacagfs	p.Q358fs	ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.Q316fs|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.Q316fs|RP11-15L13.4_ENST00000608818.1_RNA|RP11-145M9.6_ENST00000610007.1_RNA	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	358					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACACACTAATACAGAGTTTTAC	0.347																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(1069-1074)atagfs		actin-like 6A																																				SO:0001589	frameshift_variant	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179301185_179301186delAC	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1071_1072delAC	3.37:g.179301185_179301186delAC	ENSP00000397552:p.Gln358fs					ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.IQ315fs|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.IQ315fs	p.IQ357fs	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		12	1284_1285	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		357					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Frame_Shift_Del	DEL	ENST00000429709.2	37	c.1071_1072delAC	CCDS3231.1																																																																																				0.347	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		16	298						16	298	---	---	---	---	-	179301186	AC	-	179301185	7	5	274	1	0	1	0	1	0	0	0	0	198	381	14	0	1117	0	ACTL6A	3	179301185	Frame_Shift_Del	DEL	AC	TCGA-HT-7694-01A-11D-2253-08	27242611	179301185	18721245	19	29750											
GNRHR	2798	broad.mit.edu	37	chr4	68606313	68606313	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacatttcaggatcaaacCaataccaaattcctaggaca	4	10	2	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:68606313C>T	ENST00000226413.4	-	3	896	c.872G>A	c.(871-873)tGg>tAg	p.W291*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	291					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGGATCAAACCAATACCAAAT	0.403																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(871-873)tGg>tAg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						177	183	181					4																	68606313		2203	4300	6503	SO:0001587	stop_gained	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68606313C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.872G>A	4.37:g.68606313C>T	ENSP00000226413:p.Trp291*					RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L|RP11-453E17.1_ENST00000502758.1_RNA	p.W291*	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			3	896	-			291					O75793|Q14D13|Q92644	Nonsense_Mutation	SNP	ENST00000226413.4	37	c.872G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641414	0.87859	.	.	ENSG00000109163	ENST00000226413	.	.	.	5.43	4.58	0.56647	.	0.144591	0.33419	N	0.004923	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.239	14.2636	0.66102	0.0:0.8497:0.1503:0.0	.	.	.	.	X	291	.	ENSP00000226413:W291X	W	-	2	0	GNRHR	68288908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	1.406000	0.46857	0.585000	0.79938	TGG		0.403	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			17	279	0	0	0	1	0	17	279					T	68606313	C	T	68606313	4	4	274	1	0	0	0	0	0	1	0	0	6549	595	21	2	118	2	GNRHR	4	68606313	Nonsense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		68606313	122547963	20	29751											
ANKRD17	26057	broad.mit.edu	37	chr4	73963819	73963820	+	Frame_Shift_Del	DEL	TC	TC	-													gccttgccagaaacagatttTctctcttcctttggaaatgt							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:73963819_73963820delTC	ENST00000358602.4	-	26	5107_5108	c.4991_4992delGA	c.(4990-4992)agafs	p.R1664fs	ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1664	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACAGATTTTCTCTCTTCCTT	0.361																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4990-4992)afs		ankyrin repeat domain 17																																				SO:0001589	frameshift_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73963819_73963820delTC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4991_4992delGA	4.37:g.73963823_73963824delTC	ENSP00000351416:p.Arg1664fs					ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs	p.R1664fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	5107_5108	-	Breast(15;0.000295)		1664			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Frame_Shift_Del	DEL	ENST00000358602.4	37	c.4991_4992delGA	CCDS34004.1																																																																																				0.361	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		34	183						34	183	---	---	---	---	-	73963820	TC	-	73963819	7	5	274	1	0	1	0	1	0	0	0	0	646	1780	62	0	2855	0	ANKRD17	4	73963819	Frame_Shift_Del	DEL	TC	TCGA-HT-7694-01A-11D-2253-08	5357506	73963819	117190457	21	29752											
KLKB1	3818	broad.mit.edu	37	chr4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaacaaaaacaagcacacGcattgttggaggaacaaact	7	10	0	0	rs369481447		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:187173195G>A	ENST00000264690.6	+	11	1356	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R390H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502																																						ENST00000264690.6																			2	Substitution - Missense(2)	p.R390H(2)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1168-1170)cGc>cAc		kallikrein B, plasma (Fletcher factor) 1		G	HIS/ARG	0,4406		0,0,2203	103	99	100		1169	5.6	1	4		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLKB1	NM_000892.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	390/639	187173195	1,13005	2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173195G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1169G>A	4.37:g.187173195G>A	ENSP00000264690:p.Arg390His					KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	11	1356	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	390					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1169G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.4|22.4	4.284263|4.284263	0.80803|0.80803	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.94966	.|-3.57;-3.57	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.|0.188357	.|0.36167	.|N	.|0.002753	D|D	0.97433|0.97433	0.9160|0.9160	M|M	0.81341|0.81341	2.54|2.54	0.51012|0.51012	D|D	0.999901|0.999901	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.994;0.983;0.998	D|D	0.97628|0.97628	1.0140|1.0140	5|10	.|0.87932	.|D	.|0	.|.	19.9477|19.9477	0.97189|0.97189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|352;390;390	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	T|H	438|390;390;352	.|ENSP00000264690:R390H;ENSP00000424469:R390H	.|ENSP00000264690:R390H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187410189|187410189	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.177000|0.177000	0.22998|0.22998	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.645000|0.645000	0.84053|0.84053	GCA|CGC		0.502	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		5	131	0	0	0	1	0	5	131					A	187173195	G	A	187173195	3	1	274	1	0	0	0	0	1	0	0	0	8412	1087	38	1	1207	1	KLKB1	4	187173195	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	113209376	187173195	3981081	22	29753											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	8	3	1	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	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.G376R(5)|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)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(5)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(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						c.(1126-1128)Gga>Aga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						52	58	56					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	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.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R	p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1742	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	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;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		9	60	0	0	0	1	0	9	60					A	67589138	G	A	67589138	3	1	274	1	0	0	0	0	1	0	0	0	11918	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		67589138	113326122	23	29754											
TREML2	79865	broad.mit.edu	37	chr6	41165998	41165998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctgcagcaagtagcgGggccctttcacccagactcg	11	15	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:41165998G>A	ENST00000483722.1	-	2	410	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	75	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTAGCGGGGCCCTTTCA	0.572																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(223-225)ccC>ccT		triggering receptor expressed on myeloid cells-like 2							124	119	121					6																	41165998		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41165998G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.225C>T	6.37:g.41165998G>A							p.P75P	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	410	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		75			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.225C>T	CCDS4853.2																																																																																				0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		11	177	0	0	0	1	0	11	177					A	41165998	G	A	41165998	2	1	274	1	0	0	0	0	0	0	0	1	16470	1219	43	2		2	TREML2	6	41165998	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41165998	129949069	24	29755											
FILIP1	27145	broad.mit.edu	37	chr6	76023092	76023092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtatgaatacagctggcGtttcttcctctgctgcttca	8	12	3	1	rs370823048		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:76023092G>A	ENST00000237172.7	-	5	2786	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M|FILIP1_ENST00000393004.2_Missense_Mutation_p.T819M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	819										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						TACAGCTGGCGTTTCTTCCTC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19297	0.0		0.001	False		,,,				2504	0.0					ENST00000393004.2																			0				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						c.(2455-2457)aCg>aTg		filamin A interacting protein 1		G	MET/THR	0,4406		0,0,2203	150	161	157		2456	5.3	0.8	6		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	FILIP1	NM_015687.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	819/1214	76023092	1,13005	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023092G>A	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.2456C>T	6.37:g.76023092G>A	ENSP00000237172:p.Thr819Met					FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M|FILIP1_ENST00000237172.7_Missense_Mutation_p.T819M|FILIP1_ENST00000498523.1_5'UTR	p.T819M			Q7Z7B0	FLIP1_HUMAN			5	2677	-			819					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2456C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206622	0.39003	0.0	1.16E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20200	2.1;2.09;2.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.67900	0.914;0.901;0.954	T	0.05178	-1.0901	10	0.72032	D	0.01	-16.8092	19.1041	0.93285	0.0:0.0:1.0:0.0	.	819;819;819	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	819;819;720	ENSP00000376728:T819M;ENSP00000237172:T819M;ENSP00000359037:T720M	ENSP00000237172:T819M	T	-	2	0	FILIP1	76079812	1.000000	0.71417	0.782000	0.31804	0.478000	0.33099	6.087000	0.71362	2.758000	0.94735	0.563000	0.77884	ACG		0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		9	288	0	0	0	1	0	9	288					A	76023092	G	A	76023092	3	1	274	1	0	0	0	0	1	0	0	0	5894	1145	40	1	1193	1	FILIP1	6	76023092	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	34857094	76023092	95091975	25	29756											
SLC35A1	10559	broad.mit.edu	37	chr6	88187186	88187186	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggacatcagacaaagaactCtacttttcaaccacagccgt	6	12	3	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:88187186C>G	ENST00000369552.4	+	2	150	c.123C>G	c.(121-123)ctC>ctG	p.L41L	SLC35A1_ENST00000369556.3_Silent_p.L41L|C6orf165_ENST00000506888.1_3'UTR|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000544441.1_5'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	41					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)		ACAAAGAACTCTACTTTTCAA	0.358																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)	ENST00000369552.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.(121-123)ctC>ctG		solute carrier family 35 (CMP-sialic acid transporter), member A1							106	100	102					6																	88187186		2203	4300	6503	SO:0001819	synonymous_variant	10559				carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr6:88187186C>G	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.123C>G	6.37:g.88187186C>G						SLC35A1_ENST00000544441.1_5'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.L41L|SLC35A1_ENST00000464978.1_3'UTR	p.L41L	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	150	+		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)	41					Q5W1L8	Silent	SNP	ENST00000369552.4	37	c.123C>G	CCDS5010.1																																																																																				0.358	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			6	114	0	0	0	1	0	6	114					G	88187186	C	G	88187186	2	3	274	1	0	0	0	0	0	0	0	1	14570	900	32	4		4	SLC35A1	6	88187186	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	12164094	88187186	82927881	26	29757											
COQ3	51805	broad.mit.edu	37	chr6	99817516	99817516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagctggattggtgcagGcattagcttggagctcttct	13	9	2	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:99817516G>A	ENST00000254759.3	-	7	1094	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	COQ3_ENST00000369240.1_Missense_Mutation_p.A129V|COQ3_ENST00000369242.1_Missense_Mutation_p.A129V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	357					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATTGGTGCAGGCATTAGCTTG	0.403																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(1069-1071)gCc>gTc		coenzyme Q3 methyltransferase							151	155	153					6																	99817516		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817516G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.1070C>T	6.37:g.99817516G>A	ENSP00000254759:p.Ala357Val					COQ3_ENST00000369242.1_Missense_Mutation_p.A129V|COQ3_ENST00000369240.1_Missense_Mutation_p.A129V	p.A357V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	1094	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	357					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.1070C>T	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133965	0.21123	.	.	ENSG00000132423	ENST00000254759;ENST00000369242;ENST00000369240	T;T;T	0.33865	1.78;1.39;1.39	4.88	0.886	0.19194	.	1.093350	0.06914	N	0.808128	T	0.07143	0.0181	N	0.16478	0.41	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37731	-0.9693	10	0.23891	T	0.37	-2.5976	5.6138	0.17420	0.1487:0.0:0.5763:0.275	.	357	Q9NZJ6	COQ3_HUMAN	V	357;129;129	ENSP00000254759:A357V;ENSP00000358245:A129V;ENSP00000358243:A129V	ENSP00000254759:A357V	A	-	2	0	COQ3	99924237	0.001000	0.12720	0.000000	0.03702	0.059000	0.15707	0.474000	0.22148	-0.060000	0.13132	-0.145000	0.13849	GCC		0.403	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		42	182	0	0	0	1	0	42	182					A	99817516	G	A	99817516	3	1	274	1	0	0	0	0	1	0	0	0	3746	1203	42	2	43	2	COQ3	6	99817516	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	11630330	99817516	71297551	27	29758											
HDAC2	3066	broad.mit.edu	37	chr6	114270202	114270203	+	Frame_Shift_Del	DEL	TG	TG	-													ataatgagtctgcaccacacTgtaataccacagcactaggt							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:114270202_114270203delTG	ENST00000519065.1	-	8	1157_1158	c.781_782delCA	c.(781-783)cagfs	p.Q261fs	HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	261	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|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 protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|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)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q261P(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TGCACCACACTGTAATACCACA	0.371																																						ENST00000519065.1																			1	Substitution - Missense(1)	p.Q261P(1)	central_nervous_system(1)	biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(781-783)gfs		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001589	frameshift_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114270202_114270203delTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.781_782delCA	6.37:g.114270202_114270203delTG	ENSP00000430432:p.Gln261fs					HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs	p.Q261fs			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	8	1157_1158	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	261			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Frame_Shift_Del	DEL	ENST00000519065.1	37	c.781_782delCA	CCDS43493.2																																																																																				0.371	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			7	322						7	322	---	---	---	---	-	114270203	TG	-	114270202	7	5	274	1	0	1	0	1	0	0	0	0	7007	1580	55	0	712	0	HDAC2	6	114270202	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	14452686	114270202	56844865	28	29759											
FUCA2	2519	broad.mit.edu	37	chr6	143823670	143823670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctaccagctccccaaCgatcattggtgactactgtg	9	12	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:143823670C>T	ENST00000002165.6	-	4	840	c.785G>A	c.(784-786)cGt>cAt	p.R262H	FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	262					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)		AGCTCCCCAACGATCATTGGT	0.403																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(784-786)cGt>cAt		fucosidase, alpha-L- 2, plasma							101	92	95					6																	143823670		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823670C>T	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.785G>A	6.37:g.143823670C>T	ENSP00000002165:p.Arg262His					FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA	p.R262H	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	4	840	-			262					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.785G>A	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442404	0.96187	.	.	ENSG00000001036	ENST00000002165	T	0.70869	-0.52	5.8	5.8	0.92144	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93183	0.6576	10	0.49607	T	0.09	-16.1633	20.0706	0.97721	0.0:1.0:0.0:0.0	.	262	Q9BTY2	FUCO2_HUMAN	H	262	ENSP00000002165:R262H	ENSP00000002165:R262H	R	-	2	0	FUCA2	143865363	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	7.487000	0.81328	2.744000	0.94065	0.655000	0.94253	CGT		0.403	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		16	121	0	0	0	1	0	16	121					T	143823670	C	T	143823670	3	4	274	1	0	0	0	0	1	0	0	0	6095	536	19	1	634	1	FUCA2	6	143823670	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	29553468	143823670	27291397	29	29760											
NEUROD6	63974	broad.mit.edu	37	chr7	31378576	31378577	+	Frame_Shift_Del	DEL	CG	CG	-													gccgtgcatcctgttcctctCgcgcgcgttcgcttcctgtc							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:31378576_31378577delCG	ENST00000297142.3	-	2	628_629	c.306_307delCG	c.(304-309)cgcgagfs	p.E103fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	103	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTCG	0.47																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(304-309)cgagfs		neuronal differentiation 6																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378576_31378577delCG	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.306_307delCG	7.37:g.31378582_31378583delCG	ENSP00000297142:p.Glu103fs						p.RE102fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	628_629	-			102					Q548T9|Q9H3H6	Frame_Shift_Del	DEL	ENST00000297142.3	37	c.306_307delCG	CCDS5434.1																																																																																				0.47	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		8	316						8	316	---	---	---	---	-	31378577	CG	-	31378576	7	5	274	1	0	1	0	1	0	0	0	0	10351	893	31	0	710	0	NEUROD6	7	31378576	Frame_Shift_Del	DEL	CG	TCGA-HT-7694-01A-11D-2253-08		31378576	127760087	30	29761											
CLIP2	7461	broad.mit.edu	37	chr7	73795186	73795187	+	Frame_Shift_Del	DEL	TG	TG	-													acgatcaggacgaaggaaacTgtggagggtgagtggccacc							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:73795186_73795187delTG	ENST00000395060.1	+	10	2472_2473	c.2472_2473delTG	c.(2470-2475)actgtgfs	p.V825fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.V790fs|CLIP2_ENST00000223398.6_Frame_Shift_Del_p.V825fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	825						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGGAAACTGTGGAGGGTGA	0.579																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2470-2475)actgfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73795186_73795187delTG	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2472_2473delTG	7.37:g.73795188_73795189delTG	ENSP00000378500:p.Val825fs					CLIP2_ENST00000361545.5_Frame_Shift_Del_p.TV789fs|CLIP2_ENST00000395060.1_Frame_Shift_Del_p.TV824fs	p.TV824fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			11	2799_2800	+			824					O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	37	c.2472_2473delTG	CCDS5569.1																																																																																				0.579	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		63	199						63	199	---	---	---	---	-	73795187	TG	-	73795186	7	5	274	1	0	1	0	1	0	0	0	0	3533	1567	55	0	2510	0	CLIP2	7	73795186	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	42416610	73795186	85343477	31	29762											
TSC22D4	81628	broad.mit.edu	37	chr7	100064672	100064672	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgggctggccagggcGcgcagcagcccattctcctg	14	16	1	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:100064672G>T	ENST00000300181.2	-	5	1852	c.1098C>A	c.(1096-1098)cgC>cgA	p.R366R	TSC22D4_ENST00000496728.1_Intron|C7orf61_ENST00000332375.3_5'Flank|TSC22D4_ENST00000393991.1_Silent_p.R127R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCAGGGCGCGCAGCAGCC	0.697																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1096-1098)cgC>cgA		TSC22 domain family, member 4							29	29	29					7																	100064672		2203	4300	6503	SO:0001819	synonymous_variant	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100064672G>T	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.1098C>A	7.37:g.100064672G>T						TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Silent_p.R127R	p.R366R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			5	1852	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		366					A4D2C3|A8MWR6|D6W5V9	Silent	SNP	ENST00000300181.2	37	c.1098C>A	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.474839	0.01035	.	.	ENSG00000166925	ENST00000423266	.	.	.	4.16	-8.32	0.00996	.	.	.	.	.	T	0.33702	0.0872	.	.	.	0.40042	D	0.975669	.	.	.	.	.	.	T	0.39840	-0.9594	4	.	.	.	-2.3734	1.7794	0.03028	0.2588:0.3521:0.2261:0.163	.	.	.	.	E	182	.	.	A	-	2	0	TSC22D4	99902608	0.000000	0.05858	0.406000	0.26421	0.000000	0.00434	-0.801000	0.04550	-2.920000	0.00305	-3.401000	0.00039	GCG		0.697	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		4	22	1	0	0.150653	1	0.156931	4	22					T	100064672	G	T	100064672	2	4	274	1	0	0	0	0	0	0	0	1	16607	1074	38	4		4	TSC22D4	7	100064672	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	26269486	100064672	59073991	32	29763											
MYL10	93408	broad.mit.edu	37	chr7	101267513	101267513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgttggagctggcggtgCcttctgctcttttccgagct	13	11	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:101267513C>T	ENST00000223167.4	-	2	287	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	37						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTGGCGGTGCCTTCTGCTCT	0.587																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(109-111)gGc>gAc		myosin, light chain 10, regulatory							125	121	123					7																	101267513		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101267513C>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.110G>A	7.37:g.101267513C>T	ENSP00000223167:p.Gly37Asp						p.G37D	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			2	287	-			37						Missense_Mutation	SNP	ENST00000223167.4	37	c.110G>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388619	0.42308	.	.	ENSG00000106436	ENST00000223167	T	0.73469	-0.75	4.85	4.85	0.62838	.	0.174679	0.36778	N	0.002404	T	0.75997	0.3926	L	0.28400	0.85	0.41446	D	0.98795	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.25106	T	0.35	.	10.5557	0.45117	0.0:0.9099:0.0:0.0901	.	37	Q9BUA6	MYL10_HUMAN	D	37	ENSP00000223167:G37D	ENSP00000223167:G37D	G	-	2	0	MYL10	101054233	0.986000	0.35501	0.862000	0.33874	0.145000	0.21501	2.244000	0.43124	2.409000	0.81822	0.655000	0.94253	GGC		0.587	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		21	64	0	0	0	1	0	21	64					T	101267513	C	T	101267513	3	4	274	1	0	0	0	0	1	0	0	0	10044	739	26	2	598	2	MYL10	7	101267513	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1202841	101267513	57871150	33	29764											
OLFML2A	169611	broad.mit.edu	37	chr9	127572530	127572530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaaggccaggtcgccTacgctttcgacacgcacacg	12	14	0	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:127572530T>C	ENST00000373580.3	+	8	1798	c.1798T>C	c.(1798-1800)Tac>Cac	p.Y600H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	600	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAGGTCGCCTACGCTTTCGA	0.637																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1798-1800)Tac>Cac		olfactomedin-like 2A							151	121	131					9																	127572530		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572530T>C	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1798T>C	9.37:g.127572530T>C	ENSP00000362682:p.Tyr600His					OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H	p.Y600H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1798	+			600			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1798T>C	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110792	0.77210	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	D;D	0.91180	-2.8;-2.8	5.39	5.39	0.77823	Olfactomedin-like (3);	0.067793	0.64402	D	0.000010	D	0.94912	0.8355	M	0.78223	2.4	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.78314	0.82;0.991	D	0.95446	0.8530	10	0.87932	D	0	.	14.2266	0.65863	0.0:0.0:0.0:1.0	.	386;600	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	H	292;600;386	ENSP00000362682:Y600H;ENSP00000288815:Y386H	ENSP00000288815:Y386H	Y	+	1	0	OLFML2A	126612351	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	8.040000	0.89188	2.037000	0.60232	0.459000	0.35465	TAC		0.637	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		19	59	0	0	0	1	0	19	59					C	127572530	T	C	127572530	3	2	274	1	0	0	0	0	1	0	0	0	10857	1522	53	3	1828	3	OLFML2A	9	127572530	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		127572530	13640901	34	29765											
FCN1	2219	broad.mit.edu	37	chr9	137804960	137804960	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcaggaaatacccccGgtctagcaggtccttgcagt	11	14	2	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:137804960G>T	ENST00000371806.3	-	6	461	c.370C>A	c.(370-372)Cgg>Agg	p.R124R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(370-372)Cgg>Agg		ficolin (collagen/fibrinogen domain containing) 1							44	42	43					9																	137804960		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137804960G>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.370C>A	9.37:g.137804960G>T							p.R124R	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	6	461	-		Myeloproliferative disorder(178;0.0333)	124			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.370C>A	CCDS6985.1																																																																																				0.682	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		3	44	1	0	1	1	1	3	44					T	137804960	G	T	137804960	2	4	274	1	0	0	0	0	0	0	0	1	5791	1115	39	4		4	FCN1	9	137804960	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	10232430	137804960	3408471	35	29766											
VDAC2	7417	broad.mit.edu	37	chr10	76980618	76980618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgtctttggttatgaGggctggcttgctggctacca	13	9	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:76980618G>A	ENST00000332211.6	+	7	687	c.474G>A	c.(472-474)gaG>gaA	p.E158E	VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000535553.1_Silent_p.E119E|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_Silent_p.E173E	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	158					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGGTTATGAGGGCTGGCTTG	0.468																																						ENST00000535553.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10						c.(355-357)gaG>gaA		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						83	82	82					10																	76980618		2202	4281	6483	SO:0001819	synonymous_variant	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76980618G>A	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"Voltage-dependent anion channels"	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.474G>A	10.37:g.76980618G>A						VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000313132.4_Silent_p.E173E|VDAC2_ENST00000332211.6_Silent_p.E158E	p.E119E			P45880	VDAC2_HUMAN			8	713	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		158					Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Silent	SNP	ENST00000332211.6	37	c.357G>A	CCDS7348.1																																																																																				0.468	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		12	44	0	0	0	1	0	12	44					A	76980618	G	A	76980618	2	1	274	1	0	0	0	0	0	0	0	1	17144	991	35	2		2	VDAC2	10	76980618	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		76980618	58554129	36	29767											
GLUD1	2746	broad.mit.edu	37	chr10	88835744	88835744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatagttcttgggattgAtcttaacaccagctttagca	8	8	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:88835744A>C	ENST00000277865.4	-	3	659	c.563T>G	c.(562-564)aTc>aGc	p.I188S	GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S|GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	188					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)	CTTGGGATTGATCTTAACACC	0.353																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(562-564)aTc>aGc		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						150	151	151					10																	88835744		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88835744A>C	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.563T>G	10.37:g.88835744A>C	ENSP00000277865:p.Ile188Ser					GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S|GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S	p.I188S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			3	659	-			188					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.563T>G	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889784	0.72524	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.96967	-4.19;-4.14;-4.14	5.44	5.44	0.79542	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99605	1.0979	10	0.87932	D	0	.	15.1455	0.72647	1.0:0.0:0.0:0.0	.	55;188	B4DGN5;P00367	.;DHE3_HUMAN	S	188;145;21;120;55	ENSP00000277865:I188S;ENSP00000439291:I21S;ENSP00000444732:I55S	ENSP00000277865:I188S	I	-	2	0	GLUD1	88825724	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	8.903000	0.92573	2.066000	0.61787	0.397000	0.26171	ATC		0.353	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		22	127	0	0	0	1	0	22	127					C	88835744	A	C	88835744	3	2	274	1	0	0	0	0	1	0	0	0	6476	333	12	5	1157	5	GLUD1	10	88835744	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	11855126	88835744	46699003	37	29768											
ANO3	63982	broad.mit.edu	37	chr11	26663556	26663556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaaccttcatggactgaTggatgagtacttagaaatgg	11	6	1	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:26663556T>C	ENST00000256737.3	+	22	3107	c.2255T>C	c.(2254-2256)aTg>aCg	p.M752T	ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T|ANO3_ENST00000531568.1_Missense_Mutation_p.M606T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	752					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATGGACTGATGGATGAGTAC	0.413																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2254-2256)aTg>aCg		anoctamin 3							111	104	107					11																	26663556		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26663556T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2255T>C	11.37:g.26663556T>C	ENSP00000256737:p.Met752Thr					ANO3_ENST00000531568.1_Missense_Mutation_p.M606T|ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T	p.M752T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			22	3107	+			752					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2255T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966620	0.53507	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.07	6.07	0.98685	.	0.079633	0.85682	D	0.000000	T	0.48696	0.1514	N	0.08118	0	0.53688	D	0.999976	B;B	0.33345	0.27;0.409	B;B	0.38755	0.281;0.281	T	0.52749	-0.8534	10	0.40728	T	0.16	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	654;752	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	736;736;752;654;606	ENSP00000440737:M736T;ENSP00000432576:M736T;ENSP00000256737:M752T;ENSP00000432394:M606T	ENSP00000256737:M752T	M	+	2	0	ANO3	26620132	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.948000	0.87774	2.326000	0.78906	0.533000	0.62120	ATG		0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		4	105	0	0	0	1	0	4	105					C	26663556	T	C	26663556	3	2	274	1	0	0	0	0	1	0	0	0	698	1464	51	3	2341	3	ANO3	11	26663556	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		26663556	108342960	38	29769											
OTUB1	55611	broad.mit.edu	37	chr11	63764577	63764579	+	In_Frame_Del	DEL	CCT	CCT	-													ctctgtcgccgacctgctggCctccttcaatgaccagagca							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:63764577_63764579delCCT	ENST00000538426.1	+	6	523_525	c.479_481delCCT	c.(478-483)gcctcc>gcc	p.S161del	OTUB1_ENST00000543004.1_In_Frame_Del_p.S170del|OTUB1_ENST00000541478.1_In_Frame_Del_p.S60del|OTUB1_ENST00000543988.1_In_Frame_Del_p.S131del|OTUB1_ENST00000428192.2_In_Frame_Del_p.S161del|OTUB1_ENST00000422031.2_In_Frame_Del_p.S198del|OTUB1_ENST00000535715.1_In_Frame_Del_p.S161del	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	161	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GACCTGCTGGCCTCCTTCAATGA	0.591																																						ENST00000541478.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(175-180)gcc>g		OTU domain, ubiquitin aldehyde binding 1																																				SO:0001651	inframe_deletion	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764577_63764579delCCT	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.479_481delCCT	11.37:g.63764580_63764582delCCT	ENSP00000444357:p.Ser161del					OTUB1_ENST00000538426.1_In_Frame_Del_p.AS160del|OTUB1_ENST00000422031.2_In_Frame_Del_p.AS197del|OTUB1_ENST00000428192.2_In_Frame_Del_p.AS160del|OTUB1_ENST00000535715.1_In_Frame_Del_p.AS160del|OTUB1_ENST00000543988.1_In_Frame_Del_p.AS130del|OTUB1_ENST00000543004.1_In_Frame_Del_p.AS169del	p.AS59del			Q96FW1	OTUB1_HUMAN			3	636_638	+			160					Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	In_Frame_Del	DEL	ENST00000538426.1	37	c.176_178delCCT	CCDS8055.1																																																																																				0.591	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		50	258						50	258	---	---	---	---	-	63764579	CCT	-	63764577	7	5	274	1	0	1	0	1	0	0	0	0	11311	739	26	0	501	0	OTUB1	11	63764577	In_Frame_Del	DEL	CCT	TCGA-HT-7694-01A-11D-2253-08	37101021	63764577	71241939	39	29770											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-													tccagccccatcacgtactcCttcttcttcagtcgattaag							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		13	219						13	219	---	---	---	---	-	85375244	CTT	-	85375242	7	5	274	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-HT-7694-01A-11D-2253-08	21610665	85375242	49631274	40	29771											
H3F3C	440093	broad.mit.edu	37	chr12	31944718	31944718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctccccgtatccggCgagccaactggatgtctttg	9	15	3	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:31944718C>T	ENST00000340398.3	-	1	457	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	128					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCGTATCCGGCGAGCCAACTG	0.443										HNSCC(67;0.2)																												ENST00000340398.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						c.(382-384)cGc>cAc		H3 histone, family 3C							125	120	122					12																	31944718		2203	4298	6501	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944718C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"Histones / Replication-independent"	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.383G>A	12.37:g.31944718C>T	ENSP00000339835:p.Arg128His	HNSCC(67;0.2)					p.R128H	NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN			1	457	-			128					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.383G>A	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.357039	0.24598	.	.	ENSG00000188375	ENST00000340398	T	0.70164	-0.46	1.34	1.34	0.21922	Histone-fold (2);Histone core (1);	0.000000	0.49305	U	0.000142	T	0.65523	0.2699	M	0.82323	2.585	0.36861	D	0.888417	B	0.14805	0.011	B	0.22601	0.04	T	0.68104	-0.5497	10	0.59425	D	0.04	.	8.3287	0.32173	0.0:1.0:0.0:0.0	.	128	Q6NXT2	H3C_HUMAN	H	128	ENSP00000339835:R128H	ENSP00000339835:R128H	R	-	2	0	H3F3C	31835985	1.000000	0.71417	0.952000	0.39060	0.905000	0.53344	5.404000	0.66344	0.755000	0.32990	0.413000	0.27773	CGC		0.443	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		27	151	0	0	0	1	0	27	151					T	31944718	C	T	31944718	3	4	274	1	0	0	0	0	1	0	0	0	6935	768	27	1	28	1	H3F3C	12	31944718	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		31944718	101907177	41	29772											
HAUS4	54930	broad.mit.edu	37	chr14	23416936	23416936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtgaggcagcggagaAgcacctgagcccaagatgga	15	9	0	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr14:23416936A>C	ENST00000206474.7	-	8	965	c.713T>G	c.(712-714)cTt>cGt	p.L238R	RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	238					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)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCAGCGGAGAAGCACCTGAGC	0.507																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(712-714)cTt>cGt		HAUS augmin-like complex, subunit 4							77	79	78					14																	23416936		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23416936A>C	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"HAUS augmin-like complex subunits"	20163	protein-coding gene	gene with protein product		613431	"chromosome 14 open reading frame 94"	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.713T>G	14.37:g.23416936A>C	ENSP00000206474:p.Leu238Arg					HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A	p.L238R			Q9H6D7	HAUS4_HUMAN			8	965	-			238					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.713T>G	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085637	0.76642	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.63843	1.955	0.49798	D	0.999821	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.78142	-0.2319	9	0.87932	D	0	-6.8347	12.4076	0.55449	1.0:0.0:0.0:0.0	.	193;112;238	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	R	238;114;238;193;112;112;193;193;238;15	.	ENSP00000206474:L238R	L	-	2	0	RP11-298I3.5;HAUS4	22486776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.237000	0.65360	1.919000	0.55581	0.477000	0.44152	CTT		0.507	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			27	85	0	0	0	1	0	27	85					C	23416936	A	C	23416936	3	2	274	1	0	0	0	0	1	0	0	0	6968	72	3	5	390	5	HAUS4	14	23416936	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		23416936	83932604	42	29773											
SIN3A	25942	broad.mit.edu	37	chr15	75682071	75682090	+	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	ATCTTCATACTGTGATGAGT	-													gtgaacatctctctcagtgaAtcttcatactgtgatgagtc							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	ENST00000394947.3	-	16	3238_3257	c.2924_2943delACTCATCACAGTATGAAGAT	c.(2923-2943)gactcatcacagtatgaagatfs	p.DSSQYED975fs	SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs	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						CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC	0.491																																						ENST00000394947.3																			0				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						c.(2923-2943)gfs		SIN3 transcription regulator family member A																																				SO:0001589	frameshift_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	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.2924_2943delACTCATCACAGTATGAAGAT	15.37:g.75682071_75682090delATCTTCATACTGTGATGAGT	ENSP00000378402:p.Asp975fs					SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs	p.DSSQYED975fs	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			16	3238_3257	-			975						Frame_Shift_Del	DEL	ENST00000394947.3	37	c.2924_2943delACTCATCACAGTATGAAGAT	CCDS10279.1																																																																																				0.491	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		10	188						10	188	---	---	---	---	-	75682090	ATCTTCATACTGTGATGAGT	-	75682071	7	5	274	1	0	1	0	1	0	0	0	0	14325	98	4	0	902	0	SIN3A	15	75682071	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	TCGA-HT-7694-01A-11D-2253-08		75682071	26849321	43	29774											
KIAA1024	23251	broad.mit.edu	37	chr15	79748620	79748620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcgacctgtcgcagcttgCcaaactgagaagtgtgctct	11	11	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:79748620C>A	ENST00000305428.3	+	2	206	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	44						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGCAGCTTGCCAAACTGAGA	0.468																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(130-132)gCc>gAc		KIAA1024							121	114	117					15																	79748620		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748620C>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.131C>A	15.37:g.79748620C>A	ENSP00000307461:p.Ala44Asp						p.A44D	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	206	+			44					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.131C>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267190	0.80469	.	.	ENSG00000169330	ENST00000305428	T	0.35048	1.33	5.88	5.88	0.94601	.	0.468182	0.25352	N	0.031294	T	0.46054	0.1373	M	0.67953	2.075	0.50039	D	0.999844	P	0.39216	0.664	B	0.41860	0.368	T	0.28459	-1.0043	9	.	.	.	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	44	Q9UPX6	K1024_HUMAN	D	44	ENSP00000307461:A44D	.	A	+	2	0	KIAA1024	77535675	0.976000	0.34144	0.035000	0.18076	0.992000	0.81027	3.467000	0.53078	2.781000	0.95711	0.591000	0.81541	GCC		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		34	104	1	0	4.32679e-17	1	4.80755e-17	34	104					A	79748620	C	A	79748620	3	1	274	1	0	0	0	0	1	0	0	0	8205	739	26	4	133	4	KIAA1024	15	79748620	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	4066549	79748620	22782772	44	29775											
PDP2	57546	broad.mit.edu	37	chr16	66919405	66919405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggccccaggataagttCcttgtgctggcctcagatgg	13	11	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:66919405C>T	ENST00000311765.2	+	2	1552	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	406					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)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGATAAGTTCCTTGTGCTGG	0.567																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(1216-1218)ttC>ttT		pyruvate dehyrogenase phosphatase catalytic subunit 2							114	102	106					16																	66919405		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919405C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1218C>T	16.37:g.66919405C>T						PDP2_ENST00000568720.1_Intron	p.F406F	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1552	+		Ovarian(137;0.0563)	406					A8K924	Silent	SNP	ENST00000311765.2	37	c.1218C>T	CCDS10822.1																																																																																				0.567	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		38	94	0	0	0	1	0	38	94					T	66919405	C	T	66919405	2	4	274	1	0	0	0	0	0	0	0	1	11686	854	30	2		2	PDP2	16	66919405	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		66919405	23435348	45	29776											
NCOR1	9611	broad.mit.edu	37	chr17	15978996	15978996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctctgttggtatgccagtCtggggcagagccggggtgcc	17	11	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:15978996C>T	ENST00000268712.3	-	27	3779	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1174	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)		GTATGCCAGTCTGGGGCAGAG	0.493																																						ENST00000268712.3																			0				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						c.(3520-3522)caG>caA		nuclear receptor corepressor 1							80	77	78					17																	15978996		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15978996C>T	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.3522G>A	17.37:g.15978996C>T						NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron	p.Q1174Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	27	3779	-			1174			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3522G>A	CCDS11175.1																																																																																				0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	114	0	0	0	1	0	5	114					T	15978996	C	T	15978996	2	4	274	1	0	0	0	0	0	0	0	1	10235	912	32	2		2	NCOR1	17	15978996	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		15978996	65216214	46	29777											
RBBP8	5932	broad.mit.edu	37	chr18	20602227	20602227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccactcagacttgtatgGaaagaggtgagagtatagat	11	6	1	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr18:20602227G>A	ENST00000399722.2	+	18	2941	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K|RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.W831*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	864					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)			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)			GACTTGTATGGAAAGAGGTGA	0.418								Homologous recombination																														ENST00000399725.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2491-2493)tgG>tgA	Homologous recombination	retinoblastoma binding protein 8							100	101	101					18																	20602227		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20602227G>A	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.2590G>A	18.37:g.20602227G>A	ENSP00000382628:p.Glu864Lys					RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K|RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399722.2_Missense_Mutation_p.E864K	p.W831*	NM_203292.1	NP_976037.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		17	2910	+	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)		0					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	ENST00000399722.2	37	c.2493G>A	CCDS11875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.151752|5.151752	0.94645|0.94645	.|.	.|.	ENSG00000101773|ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790|ENST00000399725;ENST00000399721	T;T;T|.	0.34472|.	1.36;1.36;1.37|.	6.02|6.02	5.13|5.13	0.70059|0.70059	.|.	0.579902|.	0.18293|.	N|.	0.145662|.	T|.	0.56321|.	0.1977|.	N|N	0.24115|0.24115	0.695|0.695	0.43164|0.43164	D|D	0.994959|0.994959	P;P|.	0.43094|.	0.799;0.651|.	B;B|.	0.38378|.	0.272;0.15|.	T|.	0.62077|.	-0.6930|.	10|.	0.66056|0.66056	D|D	0.02|0.02	-9.654|-9.654	16.1959|16.1959	0.82024|0.82024	0.0:0.1331:0.8669:0.0|0.0:0.1331:0.8669:0.0	.|.	869;864|.	E7ETY1;Q99708|.	.;COM1_HUMAN|.	K|X	864;864;869|831	ENSP00000323050:E864K;ENSP00000382628:E864K;ENSP00000354024:E869K|.	ENSP00000323050:E864K|ENSP00000382627:W831X	E|W	+|+	1|3	0|0	RBBP8|RBBP8	18856225|18856225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.269000|5.269000	0.65542|0.65542	1.487000|1.487000	0.48415|0.48415	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.418	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		22	96	0	0	0	1	0	22	96					A	20602227	G	A	20602227	3	1	274	1	0	0	0	0	1	0	0	0	13105	1184	41	2	2656	2	RBBP8	18	20602227	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		20602227	57475021	47	29778											
LTBP4	8425	broad.mit.edu	37	chr19	41125346	41125346	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgccccaacagcccGgaagagtttgaccccatgac	10	14	1	3	rs371166802		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:41125346G>T	ENST00000308370.7	+	26	3363	c.3363G>T	c.(3361-3363)ccG>ccT	p.P1121P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000243562.9_Silent_p.P175P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1122	Pro-rich.				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)			CCAACAGCCCGGAAGAGTTTG	0.532																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3361-3363)ccG>ccT		latent transforming growth factor beta binding protein 4							96	97	97					19																	41125346		1982	4153	6135	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125346G>T	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.3363G>T	19.37:g.41125346G>T						LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000243562.9_Silent_p.P175P	p.P1121P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3363	+			1122			Pro-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3363G>T																																																																																					0.532	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	67	1	0	1	1	1	3	67					T	41125346	G	T	41125346	2	4	274	1	0	0	0	0	0	0	0	1	9076	1103	39	4		4	LTBP4	19	41125346	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41125346	18003637	48	29779											
CIC	23152	broad.mit.edu	37	chr19	42793443	42793444	+	Frame_Shift_Ins	INS	-	-	C													ccttggcggccactgggcggINScccccgctgctgcccacccg							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:42793443_42793444insC	ENST00000575354.2	+	8	1285_1286	c.1245_1246insC	c.(1246-1248)cccfs	p.P416fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.P1325fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P416fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	416					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)				CCACTGGGCGGCCCCCGCTGCT	0.644			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3970-3975)cgccccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793443_42793444insC	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.1250dupC	19.37:g.42793448_42793448dupC	ENSP00000458663:p.Pro416fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.RP415fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.RP415fs	p.RP1324fs			Q96RK0	CIC_HUMAN			9	4040_4041	+		Prostate(69;0.00682)	415					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.3972_3973insC	CCDS12601.1																																																																																				0.644	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			14	45						14	45	---	---	---	---	C	42793444	-	C	42793443	7	5	274	1	0	1	1	0	0	0	0	0	3424	1190	42	0	1275	0	CIC	19	42793443	Frame_Shift_Ins	INS	-	TCGA-HT-7694-01A-11D-2253-08	1668097	42793443	16335540	49	29780											
GIPR	2696	broad.mit.edu	37	chr19	46180213	46180213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccctccctaggccctcGctgcctgccgcacggcccag	11	21	0	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:46180213G>A	ENST00000590918.1	+	8	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	214					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)		CTAGGCCCTCGCTGCCTGCCG	0.662																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(640-642)Gct>Act		gastric inhibitory polypeptide receptor							52	49	50					19																	46180213		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46180213G>A		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.640G>A	19.37:g.46180213G>A	ENSP00000467494:p.Ala214Thr					GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T	p.A214T	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	8	739	+		Ovarian(192;0.051)|all_neural(266;0.112)	214					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.640G>A	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327179	0.60743	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.58060	0.36;1.15	4.55	4.55	0.56014	GPCR, family 2-like (1);	0.128952	0.35378	N	0.003245	T	0.41604	0.1166	L	0.35487	1.065	0.23411	N	0.997733	B;P;B	0.50528	0.378;0.936;0.194	B;B;B	0.41374	0.039;0.355;0.039	T	0.35871	-0.9771	10	0.28530	T	0.3	.	14.8431	0.70240	0.0:0.0:1.0:0.0	.	178;214;214	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	T	214;178	ENSP00000263281:A214T;ENSP00000305321:A178T	ENSP00000263281:A214T	A	+	1	0	GIPR	50872053	0.125000	0.22332	0.884000	0.34674	0.941000	0.58515	2.639000	0.46570	2.336000	0.79503	0.561000	0.74099	GCT		0.662	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			3	62	0	0	0	1	0	3	62					A	46180213	G	A	46180213	3	1	274	1	0	0	0	0	1	0	0	0	6395	1087	38	1	666	1	GIPR	19	46180213	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	3386770	46180213	12948770	50	29781											
PANK2	80025	broad.mit.edu	37	chr20	3891325	3891328	+	Frame_Shift_Del	DEL	TTAC	TTAC	-													aatggacggtcacagtgctaTtactttgaaaaccctgctga							TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:3891325_3891328delTTAC	ENST00000316562.4	+	3	1089_1092	c.1083_1086delTTAC	c.(1081-1086)tattacfs	p.YY361fs	PANK2_ENST00000497424.1_Frame_Shift_Del_p.YY70fs|PANK2_ENST00000610179.1_Frame_Shift_Del_p.YY238fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	361					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACAGTGCTATTACTTTGAAAACC	0.402																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	GRCh37	CD014273	PANK2	D		c.(208-213)tafs		pantothenate kinase 2																																				SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3891325_3891328delTTAC	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1083_1086delTTAC	20.37:g.3891325_3891328delTTAC	ENSP00000313377:p.Tyr361fs					PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.YY361fs	p.YY70fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			3	521_524	+			361					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.210_213delTTAC	CCDS13071.2																																																																																				0.402	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		11	155						11	155	---	---	---	---	-	3891328	TTAC	-	3891325	7	5	274	1	0	1	0	1	0	0	0	0	11417	1500	52	0	1093	0	PANK2	20	3891325	Frame_Shift_Del	DEL	TTAC	TCGA-HT-7694-01A-11D-2253-08		3891325	59134195	51	29782											
C20orf177	63939	broad.mit.edu	37	chr20	58520040	58520040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaaaacacaagcacatGcacatcctaggaaaaaggga	7	12	0	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:58520040G>A	ENST00000358293.3	+	5	1457	c.1042G>A	c.(1042-1044)Gca>Aca	p.A348T	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.A348T	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	348																	ACAAGCACATGCACATCCTAG	0.458																																						ENST00000358293.3																			0											c.(1042-1044)Gca>Aca		family with sequence similarity 217, member B							70	73	72					20																	58520040		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58520040G>A	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1042G>A	20.37:g.58520040G>A	ENSP00000351040:p.Ala348Thr					FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.A348T	p.A348T	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1457	+			348					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.1042G>A	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914888	0.33815	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.32515	1.45;1.45	5.35	0.591	0.17465	.	1.020620	0.07844	N	0.963579	T	0.16085	0.0387	N	0.17082	0.46	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.32640	-0.9899	10	0.19147	T	0.46	-4.9373	4.4803	0.11764	0.221:0.1161:0.5567:0.1062	.	348	Q9NTX9	CT177_HUMAN	T	348	ENSP00000351040:A348T;ENSP00000354056:A348T	ENSP00000351040:A348T	A	+	1	0	C20orf177	57953435	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.140000	0.10342	0.219000	0.20840	0.591000	0.81541	GCA		0.458	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		15	76	0	0	0	1	0	15	76					A	58520040	G	A	58520040	3	1	274	1	0	0	0	0	1	0	0	0	2096	1319	46	2	1044	2	C20orf177	20	58520040	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	54628715	58520040	4505480	52	29783											
MAST2	23139	broad.mit.edu	37	chr1	46497240	46497240	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcctcagccacagccctctCactcctcattccttcgggtg	7	19	3	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:46497240C>A	ENST00000361297.2	+	24	3453	c.3170C>A	c.(3169-3171)tCa>tAa	p.S1057*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S987*	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)					ACAGCCCTCTCACTCCTCATT	0.607																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3169-3171)tCa>tAa		microtubule associated serine/threonine kinase 2							30	33	32					1																	46497240		2025	4196	6221	SO:0001587	stop_gained	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497240C>A	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.3170C>A	1.37:g.46497240C>A	ENSP00000354671:p.Ser1057*					MAST2_ENST00000372009.2_Nonsense_Mutation_p.S987*|MAST2_ENST00000372008.1_Intron	p.S1057*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			24	3453	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1057						Nonsense_Mutation	SNP	ENST00000361297.2	37	c.3170C>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	42	9.694062	0.99240	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2014	17.4778	0.87664	0.0:1.0:0.0:0.0	.	.	.	.	X	1057;987	.	ENSP00000354671:S1057X	S	+	2	0	MAST2	46269827	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.609000	0.82925	2.523000	0.85059	0.655000	0.94253	TCA		0.607	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		3	42	1	0	0.00909568	1	0.00909568	3	42					A	46497240	C	A	46497240	4	1	275	1	0	0	0	0	0	1	0	0	9325	838	29	4	3264	4	MAST2	1	46497240	Nonsense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		46497240	202753381	1	29784											
GBP5	115362	broad.mit.edu	37	chr1	89730624	89730624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgatggcattgacAtaggtcagcaccaggttctt	10	11	2	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:89730624A>G	ENST00000370459.3	-	7	1021	c.894T>C	c.(892-894)taT>taC	p.Y298Y	GBP5_ENST00000343435.5_Silent_p.Y298Y|GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	298	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGGCATTGACATAGGTCAGCA	0.448																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(892-894)taT>taC		guanylate binding protein 5							86	78	81					1																	89730624		2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730624A>G	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.894T>C	1.37:g.89730624A>G						GBP5_ENST00000370459.3_Silent_p.Y298Y|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	p.Y298Y	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1430	-			298					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.894T>C	CCDS722.1																																																																																				0.448	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		31	18	0	0	0	1	0	31	18					G	89730624	A	G	89730624	2	3	275	1	0	0	0	0	0	0	0	1	6277	224	8	3		3	GBP5	1	89730624	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	43233384	89730624	159519997	2	29785											
ASXL2	55252	broad.mit.edu	37	chr2	25972673	25972673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattctcagtgacacgtggCctcttctcccagctcacagg	9	15	4	1	rs187456689		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:25972673C>T	ENST00000435504.4	-	12	2045	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ASXL2_ENST00000404843.1_Silent_p.R324R|ASXL2_ENST00000272341.4_Silent_p.R324R|ASXL2_ENST00000336112.4_Silent_p.R556R			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	584					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)					TGACACGTGGCCTCTTCTCCC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0					ENST00000435504.4																			0				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						c.(1750-1752)agG>agA		additional sex combs like 2 (Drosophila)							70	72	71					2																	25972673		2013	4168	6181	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25972673C>T			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.1752G>A	2.37:g.25972673C>T						ASXL2_ENST00000336112.4_Silent_p.R556R|ASXL2_ENST00000272341.4_Silent_p.R324R|ASXL2_ENST00000404843.1_Silent_p.R324R	p.R584R			Q76L83	ASXL2_HUMAN			12	2045	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		584					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.1752G>A																																																																																					0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	28	0	0	0	1	0	9	28					T	25972673	C	T	25972673	2	4	275	1	0	0	0	0	0	0	0	1	1067	738	26	2		2	ASXL2	2	25972673	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		25972673	217226700	3	29786											
OTOF	9381	broad.mit.edu	37	chr2	26688556	26688556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgtggagtaggtctgggCgatgccgcaggtggcgcggt	19	8	1	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:26688556C>T	ENST00000272371.2	-	38	4909	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	OTOF_ENST00000402415.3_Missense_Mutation_p.A905T|OTOF_ENST00000403946.3_Missense_Mutation_p.A1595T|OTOF_ENST00000338581.6_Missense_Mutation_p.A828T|OTOF_ENST00000339598.3_Missense_Mutation_p.A828T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1595					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTGGGCGATGCCGCAG	0.582																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4783-4785)Gcc>Acc		otoferlin							107	90	96					2																	26688556		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26688556C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4783G>A	2.37:g.26688556C>T	ENSP00000272371:p.Ala1595Thr					OTOF_ENST00000403946.3_Missense_Mutation_p.A1595T|OTOF_ENST00000402415.3_Missense_Mutation_p.A905T|OTOF_ENST00000339598.3_Missense_Mutation_p.A828T|OTOF_ENST00000338581.6_Missense_Mutation_p.A828T	p.A1595T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			38	4909	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1595					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4783G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337770	0.41398	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.34	1.46	0.22682	C2 calcium/lipid-binding domain, CaLB (1);	0.368291	0.31167	N	0.008135	T	0.39911	0.1096	L	0.55103	1.725	0.38257	D	0.94178	B;B;B;B	0.32893	0.106;0.389;0.17;0.217	B;B;B;B	0.33254	0.015;0.16;0.041;0.105	T	0.29518	-1.0009	10	0.56958	D	0.05	-10.6944	1.4243	0.02320	0.2338:0.4304:0.1188:0.217	.	1595;828;905;828	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	T	828;828;905;1595;1595	ENSP00000345137:A828T;ENSP00000344521:A828T;ENSP00000383906:A905T;ENSP00000272371:A1595T;ENSP00000385255:A1595T	ENSP00000272371:A1595T	A	-	1	0	OTOF	26542060	0.973000	0.33851	0.988000	0.46212	0.946000	0.59487	0.400000	0.20932	-0.011000	0.14247	-0.258000	0.10820	GCC		0.582	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			5	131	0	0	0	1	0	5	131					T	26688556	C	T	26688556	3	4	275	1	0	0	0	0	1	0	0	0	11303	768	27	1	1431	1	OTOF	2	26688556	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	715883	26688556	216510817	4	29787											
HEATR5B	54497	broad.mit.edu	37	chr2	37268386	37268386	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataacgatgcaaacaaccaaGagccaatgaatgaccagtcc	7	11	0	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:37268386G>C	ENST00000233099.5	-	19	2841	c.2746C>G	c.(2746-2748)Ctt>Gtt	p.L916V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L916V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	916						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)				AAACAACCAAGAGCCAATGAA	0.418																																						ENST00000233099.5																			0				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						c.(2746-2748)Ctt>Gtt		HEAT repeat containing 5B							179	155	163					2																	37268386		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37268386G>C	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.2746C>G	2.37:g.37268386G>C	ENSP00000233099:p.Leu916Val					HEATR5B_ENST00000354531.2_Missense_Mutation_p.L916V	p.L916V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			19	2841	-		all_hematologic(82;0.21)	916					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2746C>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461134	0.84317	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.76316	-1.01;-1.01	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90342	0.6978	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91193	0.4985	10	0.56958	D	0.05	-12.9423	19.3907	0.94581	0.0:0.0:1.0:0.0	.	916	Q9P2D3	HTR5B_HUMAN	V	916	ENSP00000233099:L916V;ENSP00000346531:L916V	ENSP00000233099:L916V	L	-	1	0	HEATR5B	37121890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.655000	0.67981	2.569000	0.86673	0.655000	0.94253	CTT		0.418	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		32	56	0	0	0	1	0	32	56					C	37268386	G	C	37268386	3	2	275	1	0	0	0	0	1	0	0	0	7032	942	33	4	3541	4	HEATR5B	2	37268386	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	10579830	37268386	205930987	5	29788											
AFF3	3899	broad.mit.edu	37	chr2	100175384	100175384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atactttacagcgtggtcccTtttgagtcgaaacatccgcc	8	12	0	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:100175384T>C	ENST00000409236.2	-	20	3350	c.3238A>G	c.(3238-3240)Agg>Ggg	p.R1080G	AFF3_ENST00000356421.2_Missense_Mutation_p.R1105G|AFF3_ENST00000317233.4_Missense_Mutation_p.R1080G|AFF3_ENST00000409579.1_Missense_Mutation_p.R1105G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1080					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGTGGTCCCTTTTGAGTCGA	0.483											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3238-3240)Agg>Ggg		AF4/FMR2 family, member 3							116	109	111					2																	100175384		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100175384T>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3238A>G	2.37:g.100175384T>C	ENSP00000387207:p.Arg1080Gly		OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AFF3_ENST00000409236.1_Missense_Mutation_p.R1080G|AFF3_ENST00000409579.1_Missense_Mutation_p.R1105G|AFF3_ENST00000356421.2_Missense_Mutation_p.R1105G	p.R1080G	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			21	3473	-			1080					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3238A>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.040201	0.93630	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.72	5.72	0.89469	.	0.054950	0.64402	D	0.000001	T	0.81517	0.4839	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.67145	0.99;0.996	D;D	0.67548	0.952;0.922	D	0.84139	0.0416	10	0.87932	D	0	.	16.0204	0.80478	0.0:0.0:0.0:1.0	.	1080;1105	P51826;P51826-2	AFF3_HUMAN;.	G	1080;1105;1105;1080;122	ENSP00000317421:R1080G;ENSP00000348793:R1105G;ENSP00000386834:R1105G;ENSP00000387207:R1080G;ENSP00000416685:R122G	ENSP00000317421:R1080G	R	-	1	2	AFF3	99541816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.174000	0.68829	0.533000	0.62120	AGG		0.483	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		3	92	0	0	0	1	0	3	92					C	100175384	T	C	100175384	3	2	275	1	0	0	0	0	1	0	0	0	358	1608	56	3	458	3	AFF3	2	100175384	Missense_Mutation	SNP	T	TCGA-HT-7695-01A-11D-2253-08	62906998	100175384	143023989	6	29789											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797874	131797874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgcgcagacatgttcaGcgaggagcagctgcgtacca	13	12	1	1	rs117266463	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:131797874G>A	ENST00000326016.5	+	8	1484	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S322N|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.S322N|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.S251N|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	322	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACATGTTCAGCGAGGAGCAG	0.682													G|||	6	0.00119808	0.0	0.0	5008	,	,		16431	0.006		0.0	False		,,,				2504	0.0					ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(964-966)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 4							39	37	38					2																	131797874		2202	4300	6502	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797874G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.965G>A	2.37:g.131797874G>A	ENSP00000316845:p.Ser322Asn					ARHGEF4_ENST00000355771.3_Missense_Mutation_p.S251N|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.S322N|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S322N	p.S322N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	8	1484	+		Prostate(154;0.055)	322			DH.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.965G>A	CCDS2165.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	18.36	3.606703	0.66558	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000355771	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.05	4.15	0.48705	Dbl homology (DH) domain (5);	0.051396	0.85682	D	0.000000	T	0.51415	0.1673	L	0.49778	1.585	0.37956	D	0.932818	B;B	0.23490	0.086;0.04	B;B	0.25291	0.059;0.058	T	0.62483	-0.6845	10	0.54805	T	0.06	.	10.8108	0.46547	0.0:0.3531:0.6469:0.0	.	322;322	Q9NR80-4;Q9NR80	.;ARHG4_HUMAN	N	322;322;322;251	ENSP00000316845:S322N;ENSP00000376680:S322N;ENSP00000432267:S322N;ENSP00000348017:S251N	ENSP00000316845:S322N	S	+	2	0	ARHGEF4	131514344	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.166000	0.50785	2.343000	0.79666	0.491000	0.48974	AGC		0.682	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			3	47	0	0	0	1	0	3	47					A	131797874	G	A	131797874	3	1	275	1	0	0	0	0	1	0	0	0	908	971	34	2	987	2	ARHGEF4	2	131797874	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	31622490	131797874	111401499	7	29790											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	44	0	0	0	1	0	23	44					T	209113112	C	T	209113112	3	4	275	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	77315238	209113112	34086261	8	29791											
CELSR3	1951	broad.mit.edu	37	chr3	48684252	48684252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtccccctaaggtgcgGtaaacgaggagaatgataat	12	8	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:48684252G>A	ENST00000164024.4	-	21	7519	c.7239C>T	c.(7237-7239)taC>taT	p.Y2413Y	CELSR3_ENST00000544264.1_Silent_p.Y2418Y|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2413					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)		CTAAGGTGCGGTAAACGAGGA	0.602																																						ENST00000544264.1																			0				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						c.(7252-7254)taC>taT		cadherin, EGF LAG seven-pass G-type receptor 3							42	43	42					3																	48684252		2194	4289	6483	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48684252G>A	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.7239C>T	3.37:g.48684252G>A						CELSR3_ENST00000164024.4_Silent_p.Y2413Y	p.Y2418Y			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	22	7534	-			2413					O75092	Silent	SNP	ENST00000164024.4	37	c.7254C>T	CCDS2775.1																																																																																				0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		3	44	0	0	0	1	0	3	44					A	48684252	G	A	48684252	2	1	275	1	0	0	0	0	0	0	0	1	3223	1256	44	2		2	CELSR3	3	48684252	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		48684252	149338178	9	29792											
ITIH1	3697	broad.mit.edu	37	chr3	52812973	52812973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtacagcagatggaaaCgcatttatcggagacataaa	10	7	0	2	rs151186293	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:52812973C>T	ENST00000273283.2	+	4	345	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000542827.1_Silent_p.N107N|ITIH1_ENST00000540715.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	107	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				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)		CAGATGGAAACGCATTTATCG	0.547																																						ENST00000273283.2																			0				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						c.(319-321)aaC>aaT		inter-alpha-trypsin inhibitor heavy chain 1		C	,	0,4406		0,0,2203	121	106	111		,321	-10.7	0	3	dbSNP_134	111	4,8596	3.7+/-12.6	0,4,4296	no	utr-5,coding-synonymous	ITIH1	NM_001166434.1,NM_002215.2	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	,107/912	52812973	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52812973C>T		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.321C>T	3.37:g.52812973C>T						ITIH1_ENST00000542827.1_Silent_p.N107N|ITIH1_ENST00000540715.1_5'UTR	p.N107N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		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)	4	345	+			107			VIT.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.321C>T	CCDS2864.1																																																																																				0.547	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		18	67	0	0	0	1	0	18	67					T	52812973	C	T	52812973	2	4	275	1	0	0	0	0	0	0	0	1	7903	535	19	1		1	ITIH1	3	52812973	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	4128721	52812973	145209457	10	29793											
BMP2K	55589	broad.mit.edu	37	chr4	79832652	79832652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtcctctcgccaaaggcGcacaaagcaggatatgtcca	9	13	1	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:79832652G>A	ENST00000335016.5	+	16	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	984					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGCCAAAGGCGCACAAAGCAG	0.502																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(2950-2952)cGc>cAc		BMP2 inducible kinase							68	66	66					4																	79832652		1917	4121	6038	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832652G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2951G>A	4.37:g.79832652G>A	ENSP00000334836:p.Arg984His					PAQR3_ENST00000295462.3_Intron	p.R984H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			16	3117	+			984					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.2951G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085377	0.55861	.	.	ENSG00000138756	ENST00000335016	T	0.48201	0.82	5.41	5.41	0.78517	.	0.072944	0.52532	D	0.000070	T	0.66406	0.2786	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.66448	-0.5921	10	0.51188	T	0.08	-10.6605	19.1973	0.93695	0.0:0.0:1.0:0.0	.	984	Q9NSY1	BMP2K_HUMAN	H	984	ENSP00000334836:R984H	ENSP00000334836:R984H	R	+	2	0	BMP2K	80051676	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.840000	0.75369	2.538000	0.85594	0.484000	0.47621	CGC		0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	63	0	0	0	1	0	3	63					A	79832652	G	A	79832652	3	1	275	1	0	0	0	0	1	0	0	0	1460	1087	38	1	3051	1	BMP2K	4	79832652	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		79832652	111321624	11	29794											
PCDHA13	56136	broad.mit.edu	37	chr5	140263554	140263554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgctccggcgctgctgacGcccggggctggcagcgcggg	18	15	0	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr5:140263554G>A	ENST00000289272.2	+	1	1701	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T567T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	567					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)			CGCTGCTGACGCCCGGGGCTG	0.711																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				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						c.(1699-1701)acG>acA									45	53	51					5																	140263554		2202	4295	6497	SO:0001819	synonymous_variant	0							g.chr5:140263554G>A	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.1701G>A	5.37:g.140263554G>A						PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.T567T|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.T567T	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1701	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1701G>A	CCDS4240.1																																																																																				0.711	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		6	146	0	0	0	1	0	6	146					A	140263554	G	A	140263554	2	1	275	1	0	0	0	0	0	0	0	1	11523	1074	38	1		1	PCDHA13	5	140263554	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		140263554	40651706	12	29795											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	18	1	1	6			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		zinc finger and BTB domain containing 9							61	61	61					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A							p.E215E	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	76	0	0	0	1	0	3	76					A	33423522	G	A	33423522	2	1	275	1	0	0	0	0	0	0	0	1	17555	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		33423522	137691545	13	29796											
CNR1	1268	broad.mit.edu	37	chr6	88854091	88854091	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcggacggcgtggctgtgAgccttccagagaatatacat	13	9	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:88854091A>G	ENST00000537554.1	-	2	4465	c.903T>C	c.(901-903)gcT>gcC	p.A301A	CNR1_ENST00000468898.1_Silent_p.A268A|CNR1_ENST00000369501.2_Silent_p.A301A|CNR1_ENST00000549890.1_Silent_p.A301A|CNR1_ENST00000369499.2_Silent_p.A301A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A301A|CNR1_ENST00000549716.1_Silent_p.A240A|CNR1_ENST00000535130.1_Silent_p.A301A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	301					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGGCTGTGAGCCTTCCAGA	0.537																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(901-903)gcT>gcC		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						87	79	81					6																	88854091		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854091A>G	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.903T>C	6.37:g.88854091A>G						CNR1_ENST00000549890.1_Silent_p.A301A|CNR1_ENST00000549716.1_Silent_p.A240A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A301A|CNR1_ENST00000535130.1_Silent_p.A301A|CNR1_ENST00000369499.2_Silent_p.A301A|CNR1_ENST00000369501.2_Silent_p.A301A|CNR1_ENST00000468898.1_Silent_p.A268A	p.A301A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4465	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	301					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.903T>C	CCDS5015.1																																																																																				0.537	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			11	80	0	0	0	1	0	11	80					G	88854091	A	G	88854091	2	3	275	1	0	0	0	0	0	0	0	1	3631	291	11	3		3	CNR1	6	88854091	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	55430569	88854091	82260976	14	29797											
CDK19	23097	broad.mit.edu	37	chr6	110953281	110953281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcaaaagttctggagcccGataccaaaatgtcacaacta	7	10	2	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:110953281G>A	ENST00000368911.3	-	6	777	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	CDK19_ENST00000413605.2_Missense_Mutation_p.R76W|CDK19_ENST00000323817.3_Missense_Mutation_p.R140W	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGAGCCCGATACCAAAAT	0.358																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(598-600)Cgg>Tgg		cyclin-dependent kinase 19							94	90	92					6																	110953281		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110953281G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.598C>T	6.37:g.110953281G>A	ENSP00000357907:p.Arg200Trp					CDK19_ENST00000413605.2_Missense_Mutation_p.R76W|CDK19_ENST00000323817.3_Missense_Mutation_p.R140W	p.R200W	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			6	777	-			200			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.598C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981622	0.74474	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.3	4.37	0.52481	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	0.67702	0.2921	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74337	-0.3698	10	0.87932	D	0	-6.7692	11.3629	0.49655	0.0:0.0:0.6371:0.3629	.	76;200	B4DUB1;Q9BWU1	.;CDK19_HUMAN	W	200;140;139;76;140	ENSP00000357907:R200W;ENSP00000317665:R140W;ENSP00000410604:R76W;ENSP00000415621:R140W	ENSP00000317665:R140W	R	-	1	2	CDK19	111059974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.250000	0.43178	2.478000	0.83669	0.655000	0.94253	CGG		0.358	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		8	87	0	0	0	1	0	8	87					A	110953281	G	A	110953281	3	1	275	1	0	0	0	0	1	0	0	0	3135	1057	37	1	942	1	CDK19	6	110953281	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	22099190	110953281	60161786	15	29798											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189480	11189480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcgctgtcctgcattccGaggtggttgtggcccttata	13	10	0	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:11189480G>A	ENST00000382435.4	+	1	1084	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	289	EamA 2.					integral component of membrane (GO:0016021)											CCTGCATTCCGAGGTGGTTGT	0.582																																						ENST00000382435.4																			0											c.(865-867)Gag>Aag		solute carrier family 35, member G5							132	121	125					8																	11189480		2203	4299	6502	SO:0001583	missense	83650					integral to membrane		g.chr8:11189480G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.865G>A	8.37:g.11189480G>A	ENSP00000371872:p.Glu289Lys						p.E289K	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1084	+			289			DUF6 2.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.865G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.456732	0.43634	.	.	ENSG00000177710	ENST00000382435	T	0.54675	0.56	.	.	.	.	0.000000	0.44902	D	0.000402	T	0.53932	0.1827	L	0.32530	0.975	0.44587	D	0.997551	D	0.89917	1.0	D	0.81914	0.995	T	0.50415	-0.8831	9	0.54805	T	0.06	-6.6001	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	289	Q96KT7	S35G5_HUMAN	K	289	ENSP00000371872:E289K	ENSP00000371872:E289K	E	+	1	0	SLC35G5	11226890	1.000000	0.71417	0.129000	0.21949	0.130000	0.20726	3.766000	0.55280	0.064000	0.16427	0.064000	0.15345	GAG		0.582	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		37	178	0	0	0	1	0	37	178					A	11189480	G	A	11189480	3	1	275	1	0	0	0	0	1	0	0	0	560	1059	37	1	867	1	AMAC1L2	8	11189480	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		11189480	135174542	16	29799											
LRRCC1	85444	broad.mit.edu	37	chr8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctctagcccaaaatcGtggaaaattggaggctcaaa	8	9	3	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:86049720G>A	ENST00000360375.3	+	15	2500	c.2351G>A	c.(2350-2352)cGt>cAt	p.R784H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R764H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	784					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2290-2292)cGt>cAt		leucine rich repeat and coiled-coil centrosomal protein 1							76	74	75					8																	86049720		1813	4073	5886	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86049720G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2351G>A	8.37:g.86049720G>A	ENSP00000353538:p.Arg784His					LRRCC1_ENST00000360375.3_Missense_Mutation_p.R784H	p.R764H			Q9C099	LRCC1_HUMAN			14	3180	+			784					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2291G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812762	0.50527	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.48522	0.81;0.82	5.89	1.9	0.25705	.	0.394312	0.18851	N	0.129413	T	0.31734	0.0806	L	0.37850	1.14	0.51767	D	0.99993	B;B;B;P	0.42757	0.078;0.066;0.131;0.789	B;B;B;B	0.32289	0.029;0.017;0.029;0.143	T	0.11891	-1.0569	10	0.66056	D	0.02	-0.9894	10.7016	0.45931	0.2746:0.0:0.7254:0.0	.	691;764;691;784	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	H	784;764	ENSP00000353538:R784H;ENSP00000394695:R764H	ENSP00000353538:R784H	R	+	2	0	LRRCC1	86236972	1.000000	0.71417	0.349000	0.25694	0.752000	0.42762	2.639000	0.46570	0.339000	0.23719	-0.157000	0.13467	CGT		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		18	28	0	0	0	1	0	18	28					A	86049720	G	A	86049720	3	1	275	1	0	0	0	0	1	0	0	0	9026	1145	40	1	2409	1	LRRCC1	8	86049720	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	74860240	86049720	60314302	17	29800											
FAM189A2	9413	broad.mit.edu	37	chr9	71992346	71992346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtctgcttggtggccGctgccctccgctacctccag	10	19	1	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:71992346G>A	ENST00000257515.8	+	5	733	c.313G>A	c.(313-315)Gct>Act	p.A105T	FAM189A2_ENST00000455972.1_Missense_Mutation_p.A105T|FAM189A2_ENST00000303068.7_De_novo_Start_OutOfFrame	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	105						integral component of membrane (GO:0016021)		p.A105T(1)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTGGTGGCCGCTGCCCTCCG	0.557																																						ENST00000303068.7																			1	Substitution - Missense(1)	p.A105T(1)	large_intestine(1)	endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12								family with sequence similarity 189, member A2							157	131	140					9																	71992346		2203	4300	6503	SO:0001583	missense	9413					integral to membrane		g.chr9:71992346G>A	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.313G>A	9.37:g.71992346G>A	ENSP00000257515:p.Ala105Thr					FAM189A2_ENST00000257515.8_Missense_Mutation_p.A105T|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A105T				Q15884	F1892_HUMAN			0	360	+								Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Translation_Start_Site	SNP	ENST00000257515.8	37		CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530004	0.64860	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.02631	4.22;4.22	5.41	5.41	0.78517	.	0.125053	0.52532	D	0.000072	T	0.06690	0.0171	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48103	-0.9064	10	0.05959	T	0.93	-21.2771	18.7934	0.91983	0.0:0.0:1.0:0.0	.	105	Q15884	F1892_HUMAN	T	105;105;104	ENSP00000395675:A105T;ENSP00000257515:A105T	ENSP00000257515:A105T	A	+	1	0	FAM189A2	71182166	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	6.570000	0.73996	2.538000	0.85594	0.561000	0.74099	GCT		0.557	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		4	142	0	0	0	1	0	4	142					A	71992346	G	A	71992346	3	1	275	1	0	0	0	0	1	0	0	0	5516	1087	38	1	327	1	FAM189A2	9	71992346	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		71992346	69221085	18	29801											
CORO2A	7464	broad.mit.edu	37	chr9	100897160	100897160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaggcctactctgcgCgcgtggcccacgagttcctt	10	17	1	0	rs147316581		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:100897160C>T	ENST00000343933.5	-	4	653	c.396G>A	c.(394-396)gcG>gcA	p.A132A	CORO2A_ENST00000375077.4_Silent_p.A132A	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	132					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.A132A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTACTCTGCGCGCGTGGCCCA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19472	0.0		0.001	False		,,,				2504	0.0					ENST00000343933.5																			1	Substitution - coding silent(1)	p.A132A(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(394-396)gcG>gcA		coronin, actin binding protein, 2A		C	,	1,4405	2.1+/-5.4	0,1,2202	74	64	68		396,396	-10.7	0	9	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CORO2A	NM_003389.3,NM_052820.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	132/526,132/526	100897160	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100897160C>T	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.396G>A	9.37:g.100897160C>T						CORO2A_ENST00000375077.4_Silent_p.A132A	p.A132A	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			4	653	-		Acute lymphoblastic leukemia(62;0.0559)	132					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.396G>A	CCDS6735.1																																																																																				0.602	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		25	42	0	0	0	1	0	25	42					T	100897160	C	T	100897160	2	4	275	1	0	0	0	0	0	0	0	1	3756	755	27	1		1	CORO2A	9	100897160	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	28904814	100897160	40316271	19	29802											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455699	134455699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttgaactgctgccaccGcttggagaagttcactttcc	10	11	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:134455699G>A	ENST00000372189.3	-	23	3157	c.3034C>T	c.(3034-3036)Cgg>Tgg	p.R1012W	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R1030W|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.R1029W	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1012	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		R -> Q (found in a patient with mental retardation, frontal epilepsy and mild facial dysmorphism). {ECO:0000269|PubMed:23033978}.		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)		TGCTGCCACCGCTTGGAGAAG	0.632																																						ENST00000372195.1																			0				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						c.(3085-3087)Cgg>Tgg		Rap guanine nucleotide exchange factor (GEF) 1							75	82	80					9																	134455699		2121	4234	6355	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134455699G>A	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.3034C>T	9.37:g.134455699G>A	ENSP00000361263:p.Arg1012Trp					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R1012W|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R1030W	p.R1029W			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	23	3328	-		Myeloproliferative disorder(178;0.204)	1012			Ras-GEF.		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.3085C>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813659	0.90790	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.34275	1.37;1.37;1.37	4.65	4.65	0.58169	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82180	-0.0585	10	0.87932	D	0	.	16.4952	0.84238	0.0:0.0:1.0:0.0	.	1012;1030	Q13905;Q13905-3	RPGF1_HUMAN;.	W	1012;1029;958;1012;1030;992;990;1029	ENSP00000361269:R1029W;ENSP00000361263:R1012W;ENSP00000361264:R1030W	ENSP00000266110:R1012W	R	-	1	2	RAPGEF1	133445520	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.328000	0.96403	2.120000	0.65058	0.561000	0.74099	CGG		0.632	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		25	44	0	0	0	1	0	25	44					A	134455699	G	A	134455699	3	1	275	1	0	0	0	0	1	0	0	0	13043	1086	38	1	207	1	RAPGEF1	9	134455699	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	33558539	134455699	6757732	20	29803											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-													cagcagggcctgggccctccGggggggtgaaccaccatcat					rs188153920	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	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)		TGGGCCCTCCGGGGGGGTGAA	0.587																																						ENST00000299441.3																			0				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						c.(703-705)ggfs		dachsous cadherin-related 1							100	101	101					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662142delG	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.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs						p.R236fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	236			Cadherin 2.		O15098	Frame_Shift_Del	DEL	ENST00000299441.3	37	c.703delC	CCDS7771.1																																																																																				0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	273						8	273	---	---	---	---	-	6662142	G	-	6662142	7	5	275	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-HT-7695-01A-11D-2253-08		6662142	128344374	21	29804											
SPATA5L1	79029	broad.mit.edu	37	chr15	45713342	45713342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaaccgtcgttaagttgCaaggacttggctttatatga	10	6	0	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:45713342C>T	ENST00000305560.6	+	8	2295	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	732						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGTTAAGTTGCAAGGACTTGG	0.353																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2194-2196)tgC>tgT		spermatogenesis associated 5-like 1							68	69	69					15																	45713342		2198	4298	6496	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45713342C>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2196C>T	15.37:g.45713342C>T						SPATA5L1_ENST00000533841.1_3'UTR	p.C732C	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	8	2295	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	732					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.2196C>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	2.494	-0.316807	0.05386	.	.	ENSG00000171763	ENST00000531624	.	.	.	5.46	-1.88	0.07713	.	.	.	.	.	T	0.18718	0.0449	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25641	-1.0126	4	.	.	.	-36.785	1.3685	0.02206	0.131:0.2104:0.2562:0.4024	.	.	.	.	V	237	.	.	A	+	2	0	SPATA5L1	43500634	0.000000	0.05858	0.312000	0.25196	0.519000	0.34347	-0.829000	0.04415	0.002000	0.14630	0.561000	0.74099	GCA		0.353	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	22	0	0	0	1	0	7	22					T	45713342	C	T	45713342	2	4	275	1	0	0	0	0	0	0	0	1	15011	718	25	2		2	SPATA5L1	15	45713342	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		45713342	56818050	22	29805											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897045	29897045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatcacgggggatagggGgctgccccctgagcgcacca	15	12	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:29897045G>A	ENST00000308713.5	-	8	1761	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P342S|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P368S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P298S|SEZ6L2_ENST00000562159.1_5'Flank	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	412	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGATAGGGGGCTGCCCCCT	0.602																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1234-1236)Ccc>Tcc		seizure related 6 homolog (mouse)-like 2							52	48	49					16																	29897045		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29897045G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1234C>T	16.37:g.29897045G>A	ENSP00000312550:p.Pro412Ser					SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P368S|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P342S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P298S	p.P412S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			8	1761	-			412			CUB 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1234C>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.727398	0.48833	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.30714	1.71;1.52;1.66;1.69	5.85	5.85	0.93711	CUB (4);	0.000000	0.53938	D	0.000043	T	0.17280	0.0415	N	0.13098	0.295	0.30719	N	0.748411	B;B;B;B;B;B	0.19583	0.01;0.015;0.037;0.025;0.015;0.025	B;B;B;B;B;B	0.17433	0.018;0.007;0.01;0.015;0.007;0.015	T	0.11421	-1.0588	10	0.09843	T	0.71	.	12.6727	0.56876	0.0:0.0:0.8353:0.1647	.	368;412;298;342;412;342	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	S	342;412;298;368	ENSP00000310206:P342S;ENSP00000312550:P412S;ENSP00000319215:P298S;ENSP00000439412:P368S	ENSP00000312550:P412S	P	-	1	0	SEZ6L2	29804546	0.993000	0.37304	0.995000	0.50966	0.992000	0.81027	2.387000	0.44389	2.785000	0.95823	0.645000	0.84053	CCC		0.602	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		16	74	0	0	0	1	0	16	74					A	29897045	G	A	29897045	3	1	275	1	0	0	0	0	1	0	0	0	14144	1232	43	2	1581	2	SEZ6L2	16	29897045	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		29897045	60457708	23	29806											
RLTPR	146206	broad.mit.edu	37	chr16	67688719	67688719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaacagaactggctccAtcctttgaacagcgggtaca	11	10	0	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:67688719A>G	ENST00000334583.6	+	32	3949	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	RLTPR_ENST00000545661.1_Silent_p.P1171P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1207					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)		AACTGGCTCCATCCTTTGAAC	0.622																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3619-3621)ccA>ccG		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							65	77	73					16																	67688719		2029	4174	6203	SO:0001819	synonymous_variant	146206							g.chr16:67688719A>G	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.3621A>G	16.37:g.67688719A>G						RLTPR_ENST00000545661.1_Silent_p.P1171P	p.P1207P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	32	3949	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1207					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.3621A>G	CCDS45513.1																																																																																				0.622	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		54	154	0	0	0	1	0	54	154					G	67688719	A	G	67688719	2	3	275	1	0	0	0	0	0	0	0	1	13394	204	8	3		3	RLTPR	16	67688719	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	37791674	67688719	22666034	24	29807											
MYH3	4621	broad.mit.edu	37	chr17	10533673	10533673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctcggcctcatctagacGatgctgcaggtccttcaccg	10	15	3	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:10533673G>A	ENST00000583535.1	-	37	5476	c.5389C>T	c.(5389-5391)Cgt>Tgt	p.R1797C	MYH3_ENST00000226209.7_Missense_Mutation_p.R1797C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1797					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						TCATCTAGACGATGCTGCAGG	0.607																																						ENST00000583535.1																			0				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						c.(5389-5391)Cgt>Tgt		myosin, heavy chain 3, skeletal muscle, embryonic							125	117	120					17																	10533673		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533673G>A		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.5389C>T	17.37:g.10533673G>A	ENSP00000464317:p.Arg1797Cys					MYH3_ENST00000226209.7_Missense_Mutation_p.R1797C	p.R1797C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			37	5476	-			1797					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5389C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410966	0.83340	.	.	ENSG00000109063	ENST00000226209	D	0.82711	-1.64	4.56	4.56	0.56223	Myosin tail (1);	.	.	.	.	D	0.94699	0.8290	H	0.98178	4.165	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.96755	0.9557	9	0.87932	D	0	.	17.8754	0.88824	0.0:0.0:1.0:0.0	.	1797	P11055	MYH3_HUMAN	C	1797	ENSP00000226209:R1797C	ENSP00000226209:R1797C	R	-	1	0	MYH3	10474398	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.656000	0.83736	2.509000	0.84616	0.655000	0.94253	CGT		0.607	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		17	157	0	0	0	1	0	17	157					A	10533673	G	A	10533673	3	1	275	1	0	0	0	0	1	0	0	0	10036	1058	37	1	453	1	MYH3	17	10533673	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		10533673	70661537	25	29808											
SCN4A	6329	broad.mit.edu	37	chr17	62043903	62043903	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccaggaagtagaagttCcctttgggagtcagaggcca	12	11	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62043903C>T	ENST00000435607.1	-	7	1114	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	SCN4A_ENST00000578147.1_Splice_Site_p.G346G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	346					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)	AGTAGAAGTTCCCTTTGGGAG	0.582																																						ENST00000578147.1																			0				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						c.e7-1		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						50	54	53					17																	62043903		2179	4270	6449	SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62043903C>T	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.1037-1G>A	17.37:g.62043903C>T						SCN4A_ENST00000435607.1_Splice_Site_p.G346_splice	p.G346_splice			P35499	SCN4A_HUMAN			7	1114	-			346					Q15478|Q16447|Q7Z6B1	Splice_Site	SNP	ENST00000435607.1	37	c.1036_splice	CCDS45761.1																																																																																				0.582	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Silent	8	39	0	0	0	1	0	8	39					T	62043903	C	T	62043903	5	4	275	1	0	0	0	0	0	0	1	0	13920	869	30	2	4544	2	SCN4A	17	62043903	Splice_Site	SNP	C	TCGA-HT-7695-01A-11D-2253-08	51510230	62043903	19151307	26	29809											
CIC	23152	broad.mit.edu	37	chr19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaccctggaccagcgccGggccctggtcatgcagctct	13	17	2	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr19:42798840G>A	ENST00000575354.2	+	19	4452	c.4412G>A	c.(4411-4413)cGg>cAg	p.R1471Q	CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000572681.2_Missense_Mutation_p.R2377Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					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)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7129-7131)cGg>cAg		capicua transcriptional repressor							72	71	71					19																	42798840		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798840G>A	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.4412G>A	19.37:g.42798840G>A	ENSP00000458663:p.Arg1471Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q	p.R2377Q			Q96RK0	CIC_HUMAN			20	7198	+		Prostate(69;0.00682)	1471					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7130G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986595	0.93106	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.64125	0.2570	L	0.29908	0.895	0.45403	D	0.998388	D	0.71674	0.998	D	0.66602	0.945	T	0.67979	-0.5530	8	0.87932	D	0	-10.608	15.2728	0.73717	0.0:0.0:1.0:0.0	.	1471	Q96RK0	CIC_HUMAN	Q	1471	.	ENSP00000160740:R1471Q	R	+	2	0	CIC	47490680	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.532000	0.90613	2.570000	0.86706	0.491000	0.48974	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	67	0	0	0	1	0	17	67					A	42798840	G	A	42798840	3	1	275	1	0	0	0	0	1	0	0	0	3424	1116	39	1	4486	1	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		42798840	16330143	27	29810											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	17	4	0	5			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3																			0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164	128	140					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	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.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			3	68	0	0	0	1	0	3	68					T	44258532	A	T	44258532	3	4	275	1	0	0	0	0	1	0	0	0	17344	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-HT-7695-01A-11D-2253-08		44258532	18766988	28	29811											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578623	37578623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccgtcttgcggcccaCtgagaaggcgaagaagcgct	15	12	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:37578623C>T	ENST00000337843.2	-	3	517	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	C1QTNF6_ENST00000255836.6_Splice_Site|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V148M|C1QTNF6_ENST00000470655.1_Splice_Site|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	129	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGCGGCCCACTGAGAAGGCG	0.657																																						ENST00000337843.2																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(442-444)Gtg>Atg		C1q and tumor necrosis factor related protein 6							39	44	42					22																	37578623		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578623C>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.442G>A	22.37:g.37578623C>T	ENSP00000338812:p.Val148Met					C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V148M|C1QTNF6_ENST00000470655.1_Splice_Site|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Splice_Site	p.V148M	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	517	-			129			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.442G>A	CCDS13943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.197895|3.197895	0.58126|0.58126	.|.	.|.	ENSG00000133466|ENSG00000133466	ENST00000255836|ENST00000397110;ENST00000337843	.|T;T	.|0.29917	.|1.55;1.55	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Tumour necrosis factor-like (2);Complement C1q protein (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.65026	.|0.2652	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|T	.|0.73883	.|-0.3842	.|10	.|0.87932	.|D	.|0	.|.	18.6158|18.6158	0.91302|0.91302	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|148;129	.|Q9BXI9-2;Q9BXI9	.|.;C1QT6_HUMAN	.|M	-1|148	.|ENSP00000380299:V148M;ENSP00000338812:V148M	.|ENSP00000338812:V148M	.|V	-|-	.|1	.|0	C1QTNF6|C1QTNF6	35908569|35908569	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.535000|0.535000	0.34838|0.34838	7.818000|7.818000	0.86416|0.86416	2.393000|2.393000	0.81446|0.81446	0.555000|0.555000	0.69702|0.69702	.|GTG		0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		4	84	0	0	0	1	0	4	84					T	37578623	C	T	37578623	3	4	275	1	0	0	0	0	1	0	0	0	1967	565	20	2	398	2	C1QTNF6	22	37578623	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		37578623	13725943	29	29812											
SHROOM2	357	broad.mit.edu	37	chrX	9905237	9905237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcaagatcgtgcactcGgagagccagccagagaagga	12	12	1	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:9905237G>A	ENST00000380913.3	+	7	3741	c.3651G>A	c.(3649-3651)tcG>tcA	p.S1217S	SHROOM2_ENST00000418909.2_Silent_p.S52S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1217					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)				TCGTGCACTCGGAGAGCCAGC	0.587																																						ENST00000380913.3																			0				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						c.(3649-3651)tcG>tcA		shroom family member 2							44	32	36					X																	9905237		2199	4296	6495	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905237G>A	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.3651G>A	X.37:g.9905237G>A						SHROOM2_ENST00000418909.2_Silent_p.S52S	p.S1217S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			7	3741	+		Hepatocellular(5;0.000888)	1217					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.3651G>A	CCDS14135.1																																																																																				0.587	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		5	17	0	0	0	1	0	5	17					A	9905237	G	A	9905237	2	1	275	1	0	0	0	0	0	0	0	1	14294	1103	39	1		1	SHROOM2	23	9905237	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		9905237	145365323	30	29813											
FIGF	2277	broad.mit.edu	37	chrX	15365420	15365420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttacagacacactcgcaAcgatcttcgtcaaacatcat	5	12	3	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:15365420A>G	ENST00000297904.3	-	6	1233	c.804T>C	c.(802-804)cgT>cgC	p.R268R	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	268	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|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)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CACACTCGCAACGATCTTCGT	0.473																																						ENST00000297904.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(802-804)cgT>cgC		c-fos induced growth factor (vascular endothelial growth factor D)							159	134	143					X																	15365420		2203	4300	6503	SO:0001819	synonymous_variant	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15365420A>G	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.804T>C	X.37:g.15365420A>G						FIGF_ENST00000488351.1_5'UTR	p.R268R	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN			6	1233	-	Hepatocellular(33;0.183)		268			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R7Z3	Silent	SNP	ENST00000297904.3	37	c.804T>C	CCDS14166.1																																																																																				0.473	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		12	104	0	0	0	1	0	12	104					G	15365420	A	G	15365420	2	3	275	1	0	0	0	0	0	0	0	1	5889	30	2	3		3	FIGF	23	15365420	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	5460183	15365420	139905140	31	29814											
HEPH	9843	broad.mit.edu	37	chrX	65427079	65427079	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggatgggctcctgggTtccagatacaagaaagctgt	12	8	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:65427079T>A	ENST00000343002.2	+	13	2998	c.2334T>A	c.(2332-2334)ggT>ggA	p.G778G	HEPH_ENST00000374727.3_Silent_p.G781G|HEPH_ENST00000519389.1_Silent_p.G832G|HEPH_ENST00000419594.1_Silent_p.G589G|HEPH_ENST00000441993.2_Silent_p.G781G|HEPH_ENST00000336279.5_Silent_p.G511G			Q9BQS7	HEPH_HUMAN	hephaestin	778	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTCCTGGGTTCCAGATACA	0.463																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2494-2496)ggT>ggA		hephaestin							117	98	104					X																	65427079		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427079T>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2334T>A	X.37:g.65427079T>A						HEPH_ENST00000419594.1_Silent_p.G589G|HEPH_ENST00000374727.3_Silent_p.G781G|HEPH_ENST00000441993.2_Silent_p.G781G|HEPH_ENST00000336279.5_Silent_p.G511G|HEPH_ENST00000343002.2_Silent_p.G778G	p.G832G			Q9BQS7	HEPH_HUMAN			14	2675	+			778			Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2496T>A																																																																																					0.463	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	37	0	0	0	1	0	8	37					A	65427079	T	A	65427079	2	1	275	1	0	0	0	0	0	0	0	1	7054	1712	60	5		5	HEPH	23	65427079	Silent	SNP	T	TCGA-HT-7695-01A-11D-2253-08	50061659	65427079	89843481	32	29815											
CXCR3	2833	broad.mit.edu	37	chrX	70837109	70837109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacggctgccaccgcgccGttgcccagcagccccagcag	12	19	0	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:70837109G>A	ENST00000373693.3	-	2	280	c.213C>T	c.(211-213)aaC>aaT	p.N71N	CXCR3_ENST00000373691.4_Silent_p.N118N	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	71					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACCGCGCCGTTGCCCAGCA	0.667																																						ENST00000373691.4																			0				breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10						c.(352-354)aaC>aaT		chemokine (C-X-C motif) receptor 3							21	21	21					X																	70837109		2199	4291	6490	SO:0001819	synonymous_variant	0				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70837109G>A	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.213C>T	X.37:g.70837109G>A						CXCR3_ENST00000373693.3_Silent_p.N71N	p.N118N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN			2	517	-	Renal(35;0.156)		71					B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	c.354C>T	CCDS14416.1																																																																																				0.667	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			3	14	0	0	0	1	0	3	14					A	70837109	G	A	70837109	2	1	275	1	0	0	0	0	0	0	0	1	4092	1136	40	1		1	CXCR3	23	70837109	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	5410030	70837109	84433451	33	29816											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	12	10	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557																																						ENST00000310164.2																			1	Substitution - Missense(1)	p.V71I(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(211-213)Gtc>Atc		zinc finger, CCHC domain containing 12							72	72	72					X																	117959418		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959418G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.211G>A	X.37:g.117959418G>A	ENSP00000308921:p.Val71Ile						p.V71I	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	718	+			71					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.211G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005467	0.19199	.	.	ENSG00000174460	ENST00000310164	T	0.09630	2.96	3.09	2.22	0.28083	.	0.295815	0.18444	N	0.141049	T	0.07052	0.0179	L	0.35854	1.095	0.23988	N	0.996251	B	0.18013	0.025	B	0.17979	0.02	T	0.39702	-0.9601	10	0.14656	T	0.56	-6.9045	5.1616	0.15064	0.1673:0.0:0.8327:0.0	.	71	Q6PEW1	ZCH12_HUMAN	I	71	ENSP00000308921:V71I	ENSP00000308921:V71I	V	+	1	0	ZCCHC12	117843446	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	1.020000	0.30027	0.687000	0.31509	0.594000	0.82650	GTC		0.557	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		5	97	0	0	0	1	0	5	97					A	117959418	G	A	117959418	3	1	275	1	0	0	0	0	1	0	0	0	17578	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	47122309	117959418	37311142	34	29817											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	55	0	0	0	1	0	5	55					A	150156360	G	A	150156360	2	1	275	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	32196942	150156360	5114200	35	29818											
WDR78	79819	broad.mit.edu	37	chr1	67371036	67371037	+	Frame_Shift_Ins	INS	-	-	A													gcaaaaaagctaatagacttINSctttggttgtgtggcattgt							TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:67371036_67371037insA	ENST00000371026.3	-	2	247_248	c.192_193insT	c.(190-195)aagaagfs	p.K65fs	WDR78_ENST00000371022.3_Frame_Shift_Ins_p.K65fs|WDR78_ENST00000488333.1_5'UTR|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Frame_Shift_Ins_p.K65fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	65					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTAATAGACTTCTTTGGTTGTG	0.322																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(190-195)aaagtcfs		WD repeat domain 78																																				SO:0001589	frameshift_variant	79819							g.chr1:67371036_67371037insA	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.192_193insT	1.37:g.67371036_67371037insA	ENSP00000360065:p.Lys65fs					WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Ins_p.KV64fs|WDR78_ENST00000488333.1_5'UTR|WDR78_ENST00000371023.3_Frame_Shift_Ins_p.KV64fs	p.KV64fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			2	247_248	-			64					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Frame_Shift_Ins	INS	ENST00000371026.3	37	c.192_193insT	CCDS635.1																																																																																				0.322	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		16	16						16	16	---	---	---	---	A	67371037	-	A	67371036	7	5	276	1	0	1	1	0	0	0	0	0	17325	1792	62	0	2474	0	WDR78	1	67371036	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		67371036	181879585	1	29819											
AMPD2	271	broad.mit.edu	37	chr1	110168798	110168798	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctaggctggagccagacatcCtgcttcgggccaagcaagat	12	12	0	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:110168798C>G	ENST00000256578.3	+	4	892	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	AMPD2_ENST00000528454.1_Missense_Mutation_p.L60V|AMPD2_ENST00000393688.3_Missense_Mutation_p.L59V|AMPD2_ENST00000342115.4_Missense_Mutation_p.L97V|AMPD2_ENST00000358729.4_Missense_Mutation_p.L103V|AMPD2_ENST00000528667.1_Missense_Mutation_p.L178V|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	178					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|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)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGACATCCTGCTTCGGGC	0.632																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(532-534)Ctg>Gtg		adenosine monophosphate deaminase 2							71	56	61					1																	110168798		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110168798C>G	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"AMPD isoform L"	102771	"adenosine monophosphate deaminase 2 (isoform L)"			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.532C>G	1.37:g.110168798C>G	ENSP00000256578:p.Leu178Val					AMPD2_ENST00000528454.1_Missense_Mutation_p.L60V|AMPD2_ENST00000528667.1_Missense_Mutation_p.L178V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.L59V|AMPD2_ENST00000358729.4_Missense_Mutation_p.L103V|AMPD2_ENST00000342115.4_Missense_Mutation_p.L97V	p.L178V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	4	892	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	178					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.532C>G	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.340455|3.340455	0.60963|0.60963	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;T;T;D|.	0.85955|.	-2.0;-2.05;-2.05;1.22;1.22;-1.99|.	5.21|5.21	4.3|4.3	0.51218|0.51218	.|.	0.081143|.	0.46758|.	D|.	0.000267|.	T|T	0.31796|0.31796	0.0808|0.0808	L|L	0.36672|0.36672	1.1|1.1	0.38968|0.38968	D|D	0.958687|0.958687	D;B;B;B|.	0.67145|.	0.996;0.319;0.236;0.208|.	D;B;B;B|.	0.72625|.	0.978;0.069;0.069;0.047|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.30078|.	T|.	0.28|.	-19.3336|-19.3336	6.0092|6.0092	0.19565|0.19565	0.0:0.7454:0.0:0.2546|0.0:0.7454:0.0:0.2546	.|.	103;59;178;97|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	V|R	97;97;178;60;178;103;145;60;59|148	ENSP00000345498:L97V;ENSP00000436541:L178V;ENSP00000256578:L178V;ENSP00000351573:L103V;ENSP00000437164:L60V;ENSP00000377292:L59V|.	ENSP00000256578:L178V|.	L|P	+|+	1|2	2|0	AMPD2|AMPD2	109970321|109970321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.777000|1.777000	0.38604|0.38604	2.425000|2.425000	0.82216|0.82216	0.462000|0.462000	0.41574|0.41574	CTG|CCT		0.632	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			10	38	0	0	0	1	0	10	38					G	110168798	C	G	110168798	3	3	276	1	0	0	0	0	1	0	0	0	586	680	24	4	587	4	AMPD2	1	110168798	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	42797762	110168798	139081823	2	29820											
LCE2B	26239	broad.mit.edu	37	chr1	152659476	152659476	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgctgtggtcccatctctGggggctgctgtggtcccagc	14	13	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:152659476G>T	ENST00000368780.3	+	2	211	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	LCE2B_ENST00000417924.2_Missense_Mutation_p.G53W	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	53	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCTCTGGGGGCTGCTG	0.642																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(157-159)Ggg>Tgg		late cornified envelope 2B							117	131	126					1																	152659476		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659476G>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.157G>T	1.37:g.152659476G>T	ENSP00000357769:p.Gly53Trp					LCE2B_ENST00000417924.2_Missense_Mutation_p.G53W	p.G53W	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	211	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		53			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.157G>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792359	0.02884	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.05996	3.36;3.36	2.26	2.26	0.28386	.	.	.	.	.	T	0.11793	0.0287	M	0.77313	2.365	0.24992	N	0.991525	D	0.89917	1.0	D	0.87578	0.998	T	0.05099	-1.0906	9	0.87932	D	0	.	7.6436	0.28309	0.0:0.0:1.0:0.0	.	53	O14633	LCE2B_HUMAN	W	53	ENSP00000414043:G53W;ENSP00000357769:G53W	ENSP00000357769:G53W	G	+	1	0	LCE2B	150926100	0.242000	0.23868	0.783000	0.31826	0.031000	0.12232	0.505000	0.22642	1.082000	0.41137	0.313000	0.20887	GGG		0.642	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		11	248	1	0	0.000978159	1	0.00102069	11	248					T	152659476	G	T	152659476	3	4	276	1	0	0	0	0	1	0	0	0	8666	1348	47	4	159	4	LCE2B	1	152659476	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	42490678	152659476	96591145	3	29821											
FCRL3	115352	broad.mit.edu	37	chr1	157665876	157665876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggatggggctgtgaacGttatcagctgcacagtagta	14	7	1	2	rs368325573		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:157665876G>A	ENST00000368184.3	-	7	1377	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.N362N|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	362	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTGTGAACGTTATCAGCTG	0.532																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1084-1086)aaC>aaT		Fc receptor-like 3							131	114	119					1																	157665876		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665876G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1086C>T	1.37:g.157665876G>A						FCRL3_ENST00000368186.5_Silent_p.N362N|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.N362N	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1377	-	all_hematologic(112;0.0378)		362			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1086C>T	CCDS1167.1																																																																																				0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		7	75	0	0	0	1	0	7	75					A	157665876	G	A	157665876	2	1	276	1	0	0	0	0	0	0	0	1	5796	1136	40	1		1	FCRL3	1	157665876	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	5006400	157665876	91584745	4	29822											
PRG4	10216	broad.mit.edu	37	chr1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggagccttcacccaccactCccaaggagcctgcacccacc	7	20	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:186276406C>A	ENST00000445192.2	+	7	1600	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	PRG4_ENST00000367486.3_Missense_Mutation_p.P476T|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				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						ACCCACCACTCCCAAGGAGCC	0.642																																						ENST00000445192.2																			0				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						c.(1555-1557)Ccc>Acc		proteoglycan 4							128	118	121					1																	186276406		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276406C>A	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.1555C>A	1.37:g.186276406C>A	ENSP00000399679:p.Pro519Thr					PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T	p.P519T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1600	+			519			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1555C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	2.625	-0.287646	0.05605	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.51;3.47;3.54	2.92	0.7	0.18099	.	.	.	.	.	T	0.05502	0.0145	L	0.46885	1.475	0.09310	N	0.999997	B;B;B;B	0.32573	0.376;0.376;0.259;0.376	B;B;B;B	0.25140	0.058;0.058;0.026;0.058	T	0.37753	-0.9692	8	.	.	.	.	7.2645	0.26222	0.3378:0.5079:0.1544:0.0	.	385;426;519;478	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	476;385;478;426;519	ENSP00000356456:P476T;ENSP00000356453:P478T;ENSP00000356455:P426T;ENSP00000399679:P519T	.	P	+	1	0	PRG4	184543029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.218000	0.02976	-0.122000	0.11766	0.186000	0.17326	CCC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	121	1	0	0.248553	1	0.248553	5	121					A	186276406	C	A	186276406	3	1	276	1	0	0	0	0	1	0	0	0	12481	855	30	4	1577	4	PRG4	1	186276406	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	28610530	186276406	62974215	5	29823											
ASPRV1	151516	broad.mit.edu	37	chr2	70188202	70188202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtccaccaggaacctcaCgggcactttgccaatcttcc	8	15	2	1	rs199802764		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr2:70188202C>T	ENST00000320256.4	-	1	1195	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAACCTCACGGGCACTTTG	0.597																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(619-621)Gtg>Atg		aspartic peptidase, retroviral-like 1							84	87	86					2																	70188202		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188202C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.619G>A	2.37:g.70188202C>T	ENSP00000315383:p.Val207Met						p.V207M	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1195	-			207			Peptidase A2.			Missense_Mutation	SNP	ENST00000320256.4	37	c.619G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875304	0.72180	.	.	ENSG00000244617	ENST00000320256	T	0.56103	0.48	5.56	5.56	0.83823	Peptidase aspartic (1);Peptidase A2A, retrovirus, catalytic (1);Peptidase aspartic, eukaryotic predicted (1);	0.443550	0.16781	N	0.199768	T	0.57989	0.2091	N	0.14661	0.345	0.36811	D	0.885868	D	0.89917	1.0	D	0.91635	0.999	T	0.66945	-0.5795	10	0.87932	D	0	-19.711	15.0262	0.71671	0.0:1.0:0.0:0.0	.	207	Q53RT3	APRV1_HUMAN	M	207	ENSP00000315383:V207M	ENSP00000315383:V207M	V	-	1	0	ASPRV1	70041706	0.913000	0.31002	0.991000	0.47740	0.925000	0.55904	1.650000	0.37292	2.607000	0.88179	0.561000	0.74099	GTG		0.597	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		4	72	0	0	0	1	0	4	72					T	70188202	C	T	70188202	3	4	276	1	0	0	0	0	1	0	0	0	1058	536	19	1	416	1	ASPRV1	2	70188202	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		70188202	173011171	6	29824											
PHLDB2	90102	broad.mit.edu	37	chr3	111604041	111604042	+	Frame_Shift_Ins	INS	-	-	CAGA													ttcacttcttgctggagagtINScagacagagtttttgcgacc							TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:111604041_111604042insCAGA	ENST00000431670.2	+	2	1528_1529	c.1117_1118insCAGA	c.(1117-1119)tcafs	p.-374fs	PHLDB2_ENST00000393925.3_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000481953.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000393923.3_Frame_Shift_Ins_p.-401fs|PHLDB2_ENST00000477695.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000478922.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000412622.1_Frame_Shift_Ins_p.-374fs	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							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						TGCTGGAGAGTCAGACAGAGTT	0.515																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1117-1119)agafs		pleckstrin homology-like domain, family B, member 2																																				SO:0001589	frameshift_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111604041_111604042insCAGA		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.1122_1125dupCAGA	3.37:g.111604046_111604049dupCAGA	ENSP00000405405:p.Asp374fs					PHLDB2_ENST00000412622.1_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000481953.1_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000393925.3_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000477695.1_Frame_Shift_Ins_p.R373fs|PHLDB2_ENST00000393923.3_Frame_Shift_Ins_p.R400fs|PHLDB2_ENST00000478922.1_Frame_Shift_Ins_p.R373fs	p.R373fs	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1528_1529	+			373					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Frame_Shift_Ins	INS	ENST00000431670.2	37	c.1117_1118insCAGA	CCDS46886.1																																																																																				0.515	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		23	80						23	80	---	---	---	---	CAGA	111604042	-	CAGA	111604041	7	5	276	1	0	1	1	0	0	0	0	0	11852	1667	58	0	1204	0	PHLDB2	3	111604041	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		111604041	86418389	7	29825											
GRID2	2895	broad.mit.edu	37	chr4	94436513	94436513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcggatgatcaaccgaaGcaatggatcggagaacaatg	14	7	1	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:94436513G>A	ENST00000282020.4	+	13	2402	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	GRID2_ENST00000510992.1_Missense_Mutation_p.S620N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	715					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCAACCGAAGCAATGGATCG	0.473																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2143-2145)aGc>aAc		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						136	116	123					4																	94436513		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94436513G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2144G>A	4.37:g.94436513G>A	ENSP00000282020:p.Ser715Asn					GRID2_ENST00000510992.1_Missense_Mutation_p.S620N	p.S715N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	13	2402	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	715					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2144G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441703	0.25900	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11930	2.73;2.73	5.31	5.31	0.75309	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.040787	0.85682	D	0.000000	T	0.07098	0.0180	N	0.02751	-0.505	0.51012	D	0.999907	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.38112	-0.9676	10	0.13470	T	0.59	.	19.33	0.94281	0.0:0.0:1.0:0.0	.	620;715	E9PH24;O43424	.;GRID2_HUMAN	N	715;620	ENSP00000282020:S715N;ENSP00000421257:S620N	ENSP00000282020:S715N	S	+	2	0	GRID2	94655536	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.995000	0.63908	2.639000	0.89480	0.585000	0.79938	AGC		0.473	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			20	74	0	0	0	1	0	20	74					A	94436513	G	A	94436513	3	1	276	1	0	0	0	0	1	0	0	0	6772	971	34	2	2194	2	GRID2	4	94436513	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		94436513	96717763	8	29826											
PDE4D	5144	broad.mit.edu	37	chr5	58489358	58489358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacaatcaagtcatctcCgtgtctgaaaaataaaccaa	5	10	5	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:58489358C>T	ENST00000340635.6	-	3	827	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R|PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000503947.1_5'UTR	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	218					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGTCATCTCCGTGTCTGAAA	0.398																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(652-654)Gga>Aga		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						75	71	72					5																	58489358		1880	4130	6010	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58489358C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.652G>A	5.37:g.58489358C>T	ENSP00000345502:p.Gly218Arg					PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R	p.G218R	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	827	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	218					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.652G>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826670	0.71143	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;D	0.82344	-0.32;-0.33;-0.34;-0.32;-0.34;-0.34;-0.34;-1.6	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D;D	0.87578	0.977;0.996;0.998;0.997;0.998;0.98;0.98;0.998	D	0.89095	0.3485	10	0.72032	D	0.01	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	98;154;157;218;154;81;96;88	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	R	218;87;82;154;88;96;157;157;154	ENSP00000345502:G218R;ENSP00000353152:G82R;ENSP00000424852:G154R;ENSP00000425605:G88R;ENSP00000384806:G96R;ENSP00000423094:G157R;ENSP00000442734:G157R;ENSP00000425917:G154R	ENSP00000308485:G154R	G	-	1	0	PDE4D	58525115	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.622000	0.67750	2.885000	0.99019	0.655000	0.94253	GGA		0.398	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			6	25	0	0	0	1	0	6	25					T	58489358	C	T	58489358	3	4	276	1	0	0	0	0	1	0	0	0	11642	661	23	1	1829	1	PDE4D	5	58489358	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		58489358	122425902	9	29827											
GPR98	84059	broad.mit.edu	37	chr5	90119413	90119413	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaactcaaaccagaaaaGgtaagaaatgaagagacaca	8	6	1	5			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:90119413G>A	ENST00000405460.2	+	76	16464	c.16368G>A	c.(16366-16368)aaG>aaA	p.K5456K	GPR98_ENST00000425867.2_Splice_Site_p.K1117K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5456	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				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)		AACCAGAAAAGGTAAGAAATG	0.363																																						ENST00000405460.2																			0				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						c.e76+1		G protein-coupled receptor 98							81	77	79					5																	90119413		1844	4092	5936	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90119413G>A	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.16368+1G>A	5.37:g.90119413G>A						GPR98_ENST00000425867.2_Splice_Site_p.K1117_splice	p.K5456_splice	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	76	16464	+		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)	5456			Calx-beta 35.		O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	c.16368_splice	CCDS47246.1																																																																																				0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Silent	10	13	0	0	0	1	0	10	13					A	90119413	G	A	90119413	5	1	276	1	0	0	0	0	0	0	1	0	6721	1014	35	2	16670	2	GPR98	5	90119413	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	31630055	90119413	90795847	10	29828											
PCDHB1	29930	broad.mit.edu	37	chr5	140432731	140432731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagatgacaatgacaatcGtccaatgatcttatacccac	5	12	1	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:140432731G>A	ENST00000306549.3	+	1	1753	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	559	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)	p.R559H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAATCGTCCAATGATC	0.502																																						ENST00000306549.3																			1	Substitution - Missense(1)	p.R559H(1)	large_intestine(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(1675-1677)cGt>cAt									108	101	103					5																	140432731		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432731G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1676G>A	5.37:g.140432731G>A	ENSP00000307234:p.Arg559His						p.R559H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1753	+			559			Cadherin 5.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1676G>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851559	0.32699	.	.	ENSG00000171815	ENST00000306549	T	0.59502	0.26	6.08	4.22	0.49857	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.457422	0.18413	N	0.141992	T	0.40694	0.1127	N	0.26092	0.79	0.09310	N	1	P	0.49358	0.923	B	0.38156	0.266	T	0.44817	-0.9303	10	0.87932	D	0	.	9.9289	0.41510	0.0:0.2071:0.5853:0.2075	.	559	Q9Y5F3	PCDB1_HUMAN	H	559	ENSP00000307234:R559H	ENSP00000307234:R559H	R	+	2	0	PCDHB1	140412915	0.002000	0.14202	0.994000	0.49952	0.993000	0.82548	1.132000	0.31418	2.894000	0.99253	0.655000	0.94253	CGT		0.502	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		22	44	0	0	0	1	0	22	44					A	140432731	G	A	140432731	3	1	276	1	0	0	0	0	1	0	0	0	11534	1145	40	1	1678	1	PCDHB1	5	140432731	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50313318	140432731	40482529	11	29829											
ATP10B	23120	broad.mit.edu	37	chr5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcccatgatggtgcaaCgtcggaacaccatcttgttc	10	13	1	1	rs376023056		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:160061402C>T	ENST00000327245.5	-	12	2186	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447					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)			GATGGTGCAACGTCGGAACAC	0.507																																						ENST00000327245.5																			0				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						c.(1339-1341)cGt>cAt		ATPase, class V, type 10B		C	HIS/ARG	1,3919		0,1,1959	129	130	130		1340	5.5	0.1	5		130	0,8290		0,0,4145	no	missense	ATP10B	NM_025153.2	29	0,1,6104	TT,TC,CC		0.0,0.0255,0.0082	probably-damaging	447/1462	160061402	1,12209	1960	4145	6105	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061402C>T	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.1340G>A	5.37:g.160061402C>T	ENSP00000313600:p.Arg447His					CTC-348L5.1_ENST00000523598.1_RNA	p.R447H	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2186	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	447					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1340G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182278	0.94885	2.55E-4	0.0	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.64803	-0.12;-0.12	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.80864	0.4705	M	0.81682	2.555	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	0.91635	0.998;0.983;0.998;0.978;0.999	T	0.81400	-0.0950	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	491;447;419;55;447	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	H	447;55	ENSP00000313600:R447H;ENSP00000431081:R55H	.	R	-	2	0	ATP10B	159993980	1.000000	0.71417	0.087000	0.20705	0.910000	0.53928	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	CGT		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		26	45	0	0	0	1	0	26	45					T	160061402	C	T	160061402	3	4	276	1	0	0	0	0	1	0	0	0	1117	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	19628671	160061402	20853858	12	29830											
FGFR4	2264	broad.mit.edu	37	chr5	176519745	176519745	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctcgcaggcaattccatCggcctctcctaccagtctgc	8	17	2	0	rs375390888		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:176519745C>T	ENST00000292408.4	+	8	1262	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_ENST00000292410.3_Silent_p.I339I|FGFR4_ENST00000393637.1_Silent_p.I339I|FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	339	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	GCAATTCCATCGGCCTCTCCT	0.632										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1015-1017)atC>atT		fibroblast growth factor receptor 4	Palifermin(DB00039)	C	,,	0,4406		0,0,2203	64	60	62		1017,1017,1017	-1.5	1	5		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	339/803,339/763,339/803	176519745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176519745C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1017C>T	5.37:g.176519745C>T		TSP Lung(9;0.080)				FGFR4_ENST00000292410.3_Silent_p.I339I|FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I|FGFR4_ENST00000393637.1_Silent_p.I339I	p.I339I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1262	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	339			Ig-like C2-type 3.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.1017C>T	CCDS4410.1																																																																																				0.632	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			5	124	0	0	0	1	0	5	124					T	176519745	C	T	176519745	2	4	276	1	0	0	0	0	0	0	0	1	5868	874	31	1		1	FGFR4	5	176519745	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	16458343	176519745	4395515	13	29831											
TRIM15	89870	broad.mit.edu	37	chr6	30131720	30131720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttactgcgaggagcacGgcgagaagatctacttcttc	10	10	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:30131720G>A	ENST00000376694.4	+	1	728	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	TRIM15_ENST00000376688.1_Missense_Mutation_p.G87S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	87					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGAGCACGGCGAGAAGAT	0.632																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(259-261)Ggc>Agc		tripartite motif containing 15							96	60	73					6																	30131720		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131720G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.259G>A	6.37:g.30131720G>A	ENSP00000365884:p.Gly87Ser					TRIM15_ENST00000376688.1_Missense_Mutation_p.G87S	p.G87S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			1	728	+			87					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.259G>A	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521272	0.64747	.	.	ENSG00000204610	ENST00000376695;ENST00000376694;ENST00000376688	T;T	0.57752	0.38;1.02	5.68	3.81	0.43845	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.127121	0.35677	N	0.003055	T	0.57080	0.2029	M	0.72118	2.19	0.30414	N	0.778806	D	0.89917	1.0	D	0.78314	0.991	T	0.56751	-0.7927	10	0.72032	D	0.01	.	9.0465	0.36349	0.082:0.1491:0.7688:0.0	.	87	Q9C019	TRI15_HUMAN	S	18;87;87	ENSP00000365884:G87S;ENSP00000365878:G87S	ENSP00000365878:G87S	G	+	1	0	TRIM15	30239699	0.000000	0.05858	0.818000	0.32626	0.575000	0.36095	-0.283000	0.08433	1.406000	0.46857	-0.271000	0.10264	GGC		0.632	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		3	46	0	0	0	1	0	3	46					A	30131720	G	A	30131720	3	1	276	1	0	0	0	0	1	0	0	0	16487	1116	39	1	261	1	TRIM15	6	30131720	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30131720	140983347	14	29832											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127	100	109					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.E376E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			3	30	0	0	0	1	0	3	30					T	33287900	C	T	33287900	2	4	276	1	0	0	0	0	0	0	0	1	4243	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	3156180	33287900	137827167	15	29833											
ABCA13	154664	broad.mit.edu	37	chr7	48506641	48506641	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagatttaaacccacgcCagtaagtgtcaggtgctctc	10	11	2	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:48506641C>T	ENST00000435803.1	+	44	12928	c.12904C>T	c.(12904-12906)Cag>Tag	p.Q4302*	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4302			Q -> R (in dbSNP:rs4917153).		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						AAACCCACGCCAGTAAGTGTC	0.473																																						ENST00000435803.1																			0				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						c.e44+1		ATP-binding cassette, sub-family A (ABC1), member 13							108	111	110					7																	48506641		1957	4167	6124	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48506641C>T	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.12905+1C>T	7.37:g.48506641C>T						ABCA13_ENST00000544596.1_Intron	p.Q4302_splice	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			44	12928	+			4302		Q -> R (in dbSNP:rs4917153).			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37	c.12905_splice	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	53	21.098307	0.99937	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.29	-0.295	0.12828	.	2.536950	0.02036	N	0.048937	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	3.3893	0.07283	0.3024:0.4368:0.0:0.2608	.	.	.	.	X	4302	.	ENSP00000411096:Q4302X	Q	+	1	0	ABCA13	48477187	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.309000	0.08145	0.018000	0.15052	-0.140000	0.14226	CAG		0.473	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Nonsense_Mutation	28	104	0	0	0	1	0	28	104					T	48506641	C	T	48506641	5	4	276	1	0	0	0	0	0	0	1	0	31	608	21	2	12907	2	ABCA13	7	48506641	Splice_Site	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48506641	110632022	16	29834											
ABCB1	5243	broad.mit.edu	37	chr7	87183111	87183111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatagaatattcccctgagAggaccaaggtggtcccatac	9	11	0	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:87183111A>G	ENST00000265724.3	-	10	1382	c.965T>C	c.(964-966)cTc>cCc	p.L322P	ABCB1_ENST00000543898.1_Missense_Mutation_p.L258P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	322	ABC transmembrane type-1 1. {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)	TTCCCCTGAGAGGACCAAGGT	0.393																																						ENST00000265724.3																			0				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						c.(964-966)cTc>cCc		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						132	123	126					7																	87183111		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87183111A>G	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.965T>C	7.37:g.87183111A>G	ENSP00000265724:p.Leu322Pro					ABCB1_ENST00000543898.1_Missense_Mutation_p.L258P	p.L322P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			10	1382	-	Esophageal squamous(14;0.00164)		322			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.965T>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.439109	0.43326	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.83075	-1.68;-1.68	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.267525	0.37437	N	0.002099	D	0.90813	0.7115	M	0.79805	2.47	0.80722	D	1	D;D	0.64830	0.971;0.994	P;D	0.67900	0.838;0.954	D	0.92043	0.5642	10	0.72032	D	0.01	-0.303	15.716	0.77670	1.0:0.0:0.0:0.0	.	258;322	B5AK60;P08183	.;MDR1_HUMAN	P	103;322;258	ENSP00000265724:L322P;ENSP00000444095:L258P	ENSP00000265724:L322P	L	-	2	0	ABCB1	87021047	0.993000	0.37304	0.683000	0.30040	0.377000	0.30045	7.274000	0.78538	2.167000	0.68274	0.528000	0.53228	CTC		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		19	42	0	0	0	1	0	19	42					G	87183111	A	G	87183111	3	3	276	1	0	0	0	0	1	0	0	0	40	304	11	3	2957	3	ABCB1	7	87183111	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	38676470	87183111	71955552	17	29835											
MUC17	140453	broad.mit.edu	37	chr7	100676700	100676700	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacttcaactgaagccacttCatcttctacaactgcggaag	6	13	4	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:100676700C>A	ENST00000306151.4	+	3	2067	c.2003C>A	c.(2002-2004)tCa>tAa	p.S668*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	668	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)					GAAGCCACTTCATCTTCTACA	0.502																																						ENST00000306151.4																			0				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						c.(2002-2004)tCa>tAa		mucin 17, cell surface associated							294	298	297					7																	100676700		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676700C>A	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.2003C>A	7.37:g.100676700C>A	ENSP00000302716:p.Ser668*						p.S668*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2067	+	Lung NSC(181;0.136)|all_lung(186;0.182)		668			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.2003C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916972	0.92249	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.33	0.343	0.16001	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3447	0.26656	0.0:0.7236:0.2764:0.0	.	.	.	.	X	668	.	ENSP00000302716:S668X	S	+	2	0	MUC17	100463420	0.000000	0.05858	0.006000	0.13384	0.107000	0.19398	-0.780000	0.04654	0.130000	0.18549	0.395000	0.25975	TCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	323	1	0	0.0293803	1	0.0300055	6	323					A	100676700	C	A	100676700	4	1	276	1	0	0	0	0	0	1	0	0	9974	838	29	4	2013	4	MUC17	7	100676700	Nonsense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	13493589	100676700	58461963	18	29836											
RNF208	727800	broad.mit.edu	37	chr9	140114928	140114928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcacgtggcaggtgcacGcggccccacagtactgccgg	14	16	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr9:140114928G>A	ENST00000392827.1	-	2	905	c.737C>T	c.(736-738)gCg>gTg	p.A246V	RNF208_ENST00000391553.1_Missense_Mutation_p.A246V			Q9H0X6	RN208_HUMAN	ring finger protein 208	246					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGCGGCCCCACA	0.706																																						ENST00000392827.1																			0				lung(1)	1						c.(736-738)gCg>gTg		ring finger protein 208							18	23	21					9																	140114928		2171	4285	6456	SO:0001583	missense	727800						zinc ion binding	g.chr9:140114928G>A	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.737C>T	9.37:g.140114928G>A	ENSP00000376572:p.Ala246Val					RNF208_ENST00000391553.1_Missense_Mutation_p.A246V	p.A246V			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	905	-	all_cancers(76;0.0926)		246					A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	c.737C>T	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087253	0.76642	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.32753	1.44;1.44	4.22	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	L	0.36672	1.1	0.58432	D	0.999994	B	0.22983	0.078	B	0.15052	0.012	T	0.05750	-1.0866	10	0.56958	D	0.05	-2.1412	9.0562	0.36408	0.1052:0.0:0.8948:0.0	.	246	Q9H0X6	RN208_HUMAN	V	246	ENSP00000376572:A246V;ENSP00000375397:A246V	ENSP00000375397:A246V	A	-	2	0	RNF208	139234749	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	5.322000	0.65852	0.983000	0.38602	0.491000	0.48974	GCG		0.706	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		3	13	0	0	0	1	0	3	13					A	140114928	G	A	140114928	3	1	276	1	0	0	0	0	1	0	0	0	13475	1087	38	1	52	1	RNF208	9	140114928	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		140114928	1098503	19	29837											
CPN1	1369	broad.mit.edu	37	chr10	101841262	101841262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcgtgatgccggggcattCgttttgcaccttgtacagcg	13	12	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr10:101841262C>T	ENST00000370418.3	-	1	372	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	41	Catalytic.				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)		CCGGGGCATTCGTTTTGCACC	0.597																																						ENST00000370418.3																			0				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						c.(121-123)Gaa>Aaa		carboxypeptidase N, polypeptide 1							76	66	70					10																	101841262		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101841262C>T	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.121G>A	10.37:g.101841262C>T	ENSP00000359446:p.Glu41Lys						p.E41K	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	1	372	-		Colorectal(252;0.234)	41			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.121G>A	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805504	0.50315	.	.	ENSG00000120054	ENST00000370418	T	0.10573	2.86	5.45	3.54	0.40534	Peptidase M14, carboxypeptidase A (2);	0.160456	0.53938	D	0.000045	T	0.07052	0.0179	N	0.21097	0.63	0.44719	D	0.997713	B	0.22983	0.078	B	0.17722	0.019	T	0.19484	-1.0304	10	0.09590	T	0.72	-10.0074	12.8936	0.58087	0.1044:0.3247:0.5709:0.0	.	41	P15169	CBPN_HUMAN	K	41	ENSP00000359446:E41K	ENSP00000359446:E41K	E	-	1	0	CPN1	101831252	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	1.111000	0.31159	0.605000	0.29947	0.555000	0.69702	GAA		0.597	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		4	87	0	0	0	1	0	4	87					T	101841262	C	T	101841262	3	4	276	1	0	0	0	0	1	0	0	0	3809	893	31	1	1291	1	CPN1	10	101841262	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		101841262	33693485	20	29838											
NTF3	4908	broad.mit.edu	37	chr12	5603797	5603797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcacggcggaaacggtaCgcggagcataagagtcaccg	13	11	2	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:5603797C>T	ENST00000331010.6	+	1	500	c.417C>T	c.(415-417)taC>taT	p.Y139Y	NTF3_ENST00000423158.3_Silent_p.Y152Y|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	139					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|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 glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGAAACGGTACGCGGAGCATA	0.602																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(454-456)taC>taT		neurotrophin 3							90	85	87					12																	5603797		2203	4300	6503	SO:0001819	synonymous_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603797C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.417C>T	12.37:g.5603797C>T						NTF3_ENST00000331010.6_Silent_p.Y139Y|NTF3_ENST00000535299.1_Intron	p.Y152Y	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	668	+			139					B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	c.456C>T	CCDS8538.1																																																																																				0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			35	106	0	0	0	1	0	35	106					T	5603797	C	T	5603797	2	4	276	1	0	0	0	0	0	0	0	1	10696	547	19	1		1	NTF3	12	5603797	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		5603797	128248098	21	29839											
ATN1	1822	broad.mit.edu	37	chr12	7050146	7050146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaaccccctgcttcctcaCcctctgcacgagaacgaagt	6	18	2	1	rs370442635		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:7050146C>T	ENST00000356654.4	+	8	3555	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000544681.1_5'Flank|U47924.31_ENST00000607421.1_RNA|ATN1_ENST00000396684.2_Silent_p.H1106H|C12orf57_ENST00000537087.1_5'Flank	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1106					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						TGCTTCCTCACCCTCTGCACG	0.567																																						ENST00000356654.4																			0				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						c.(3316-3318)caC>caT		atrophin 1							118	97	104					12																	7050146		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7050146C>T	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.3318C>T	12.37:g.7050146C>T						ATN1_ENST00000396684.2_Silent_p.H1106H	p.H1106H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			8	3555	+			1106					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.3318C>T	CCDS31734.1																																																																																				0.567	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		16	51	0	0	0	1	0	16	51					T	7050146	C	T	7050146	2	4	276	1	0	0	0	0	0	0	0	1	1111	506	18	2		2	ATN1	12	7050146	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	1446349	7050146	126801749	22	29840											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	141	0	0	0	1	0	4	141					A	57111705	G	A	57111705	2	1	276	1	0	0	0	0	0	0	0	1	10133	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50061559	57111705	76740190	23	29841											
TMTC2	160335	broad.mit.edu	37	chr12	83379779	83379779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactgagatccaagactgAccacatccctgctcatctca	5	15	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:83379779A>G	ENST00000321196.3	+	8	2731	c.2024A>G	c.(2023-2025)gAc>gGc	p.D675G	TMTC2_ENST00000549919.1_Missense_Mutation_p.D669G	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	675					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCAAGACTGACCACATCCCT	0.458																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(2005-2007)gAc>gGc		transmembrane and tetratricopeptide repeat containing 2							199	162	175					12																	83379779		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83379779A>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2024A>G	12.37:g.83379779A>G	ENSP00000322300:p.Asp675Gly					TMTC2_ENST00000321196.3_Missense_Mutation_p.D675G	p.D669G			Q8N394	TMTC2_HUMAN			9	3811	+			675					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.2006A>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694610	0.88830	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.64991	-0.13;-0.13	5.4	5.4	0.78164	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.82517	2.595	0.80722	D	1	D;D	0.67145	0.996;0.968	D;P	0.65573	0.936;0.79	T	0.82099	-0.0625	10	0.59425	D	0.04	-24.25	14.5446	0.68020	1.0:0.0:0.0:0.0	.	675;430	Q8N394;F8VRQ2	TMTC2_HUMAN;.	G	675;669;430	ENSP00000322300:D675G;ENSP00000447609:D669G	ENSP00000322300:D675G	D	+	2	0	TMTC2	81903910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.460000	0.90369	2.181000	0.69327	0.533000	0.62120	GAC		0.458	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		31	65	0	0	0	1	0	31	65					G	83379779	A	G	83379779	3	3	276	1	0	0	0	0	1	0	0	0	16258	275	10	3	2054	3	TMTC2	12	83379779	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	26268074	83379779	50472116	24	29842											
PTPN11	5781	broad.mit.edu	37	chr12	112915523	112915523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagattacatcaatgcaAatatcatcatggtaagcttt	5	7	4	1	rs28933386		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:112915523A>G	ENST00000351677.2	+	8	1120	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	308	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> D (in NS1; common mutation). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12960218}.|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue). {ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.N308D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CATCAATGCAAATATCATCAT	0.378			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		1	Substitution - Missense(1)	p.N308D(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM013422	PTPN11	M	rs28933386	c.(922-924)Aat>Gat		protein tyrosine phosphatase, non-receptor type 11		A	ASP/ASN	0,4406		0,0,2203	206	178	188	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	922	4.5	1	12	dbSNP_125	188	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN11	NM_002834.3	23	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	308/594	112915523	1,13005	2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112915523A>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.922A>G	12.37:g.112915523A>G	ENSP00000340944:p.Asn308Asp					PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D	p.N308D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			8	1120	+			308		N -> D (in NS1; common mutation).|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.922A>G	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834908	0.71373	0.0	1.16E-4	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99479	-5.98;-5.98	5.64	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.96430	3.82	0.80722	A	1	B;B	0.31910	0.229;0.346	B;B	0.39840	0.167;0.311	D	0.99958	1.1671	9	0.72032	D	0.01	.	11.3384	0.49518	0.9292:0.0:0.0708:0.0	rs28933386	308;308	Q06124-2;Q06124-3	.;.	D	308	ENSP00000376376:N308D;ENSP00000340944:N308D	ENSP00000340944:N308D	N	+	1	0	PTPN11	111399906	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	8.869000	0.92326	0.998000	0.38996	0.524000	0.50904	AAT		0.378	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			12	37	0	0	0	1	0	12	37					G	112915523	A	G	112915523	3	3	276	1	0	0	0	0	1	0	0	0	12780	14	1	3	952	3	PTPN11	12	112915523	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	29535744	112915523	20936372	25	29843											
NCOR2	9612	broad.mit.edu	37	chr12	124817682	124817683	+	Frame_Shift_Ins	INS	-	-	C													cccacagaagtacctgggctINSccgtctgttccccatcccgg							TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:124817682_124817683insC	ENST00000405201.1	-	42	6748_6749	c.6748_6749insG	c.(6748-6750)gagfs	p.E2250fs	NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.E1811fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.E2240fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.E2257fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.E2240fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.E2241fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					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)		GTACCTGGGCTCCGTCTGTTCC	0.644																																						ENST00000356219.3																			0				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						c.(6769-6771)gccfs		nuclear receptor corepressor 2																																				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124817682_124817683insC	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.6749dupG	12.37:g.124817684_124817684dupC	ENSP00000384018:p.Glu2250fs					NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A2240fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A2240fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A1811fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.A2250fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A2241fs	p.A2257fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		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)	43	6924_6925	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2261					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.6769_6770insG	CCDS41858.2																																																																																				0.644	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		32	86						32	86	---	---	---	---	C	124817683	-	C	124817682	7	5	276	1	0	1	1	0	0	0	0	0	10236	1551	54	0	819	0	NCOR2	12	124817682	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08	11902159	124817682	9034213	26	29844											
IL16	3603	broad.mit.edu	37	chr15	81571959	81571959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgacggcgcctccttccCtgtgcagccacctgtctccc	9	20	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr15:81571959C>T	ENST00000302987.4	+	7	925	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	IL16_ENST00000394660.2_Silent_p.L309L			Q14005	IL16_HUMAN	interleukin 16	309	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCTCCTTCCCTGTGCAGCCA	0.612																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(925-927)Ctg>Ttg		interleukin 16							34	37	36					15																	81571959		1949	4142	6091	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81571959C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.925C>T	15.37:g.81571959C>T						IL16_ENST00000302987.4_Silent_p.L309L	p.L309L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			8	1285	+			309			Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.925C>T	CCDS42069.1																																																																																				0.612	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		17	23	0	0	0	1	0	17	23					T	81571959	C	T	81571959	2	4	276	1	0	0	0	0	0	0	0	1	7633	680	24	2		2	IL16	15	81571959	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		81571959	20959433	27	29845											
MAPK3	5595	broad.mit.edu	37	chr16	30134372	30134372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcacctgaccatgccGtacgcgccctcgccgatgta	8	20	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:30134372G>A	ENST00000263025.4	-	1	243	c.159C>T	c.(157-159)taC>taT	p.Y53Y	MAPK3_ENST00000395200.1_Silent_p.Y24Y|MAPK3_ENST00000322266.5_Silent_p.Y53Y|MAPK3_ENST00000395199.3_Silent_p.Y53Y|MAPK3_ENST00000484663.1_5'Flank|MAPK3_ENST00000403394.1_Silent_p.Y53Y|MAPK3_ENST00000395202.1_Silent_p.Y53Y	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	53	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|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 I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	TGACCATGCCGTACGCGCCCT	0.726																																						ENST00000403394.1																			0											c.(157-159)taC>taT		mitogen-activated protein kinase 3	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						19	17	18					16																	30134372		2186	4286	6472	SO:0001819	synonymous_variant	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30134372G>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.159C>T	16.37:g.30134372G>A						MAPK3_ENST00000395202.1_Silent_p.Y53Y|MAPK3_ENST00000395200.1_Silent_p.Y24Y|MAPK3_ENST00000322266.5_Silent_p.Y53Y|MAPK3_ENST00000263025.4_Silent_p.Y53Y|MAPK3_ENST00000395199.3_Silent_p.Y53Y	p.Y53Y	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN			1	258	-			53			Protein kinase.		A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	ENST00000263025.4	37	c.159C>T	CCDS10672.1																																																																																				0.726	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			3	50	0	0	0	1	0	3	50					A	30134372	G	A	30134372	2	1	276	1	0	0	0	0	0	0	0	1	9279	1140	40	1		1	MAPK3	16	30134372	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30134372	60220381	28	29846											
PLCG2	5336	broad.mit.edu	37	chr16	81944259	81944259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgcgagacgcacctgcGctgcgccgagttcgagctgc	13	16	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:81944259G>A	ENST00000359376.3	+	18	2082	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	623	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.			R -> P (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815). {ECO:0000305}.	B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACGCACCTGCGCTGCGCCGAG	0.632																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1867-1869)cGc>cAc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							154	169	164					16																	81944259		2149	4254	6403	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944259G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1868G>A	16.37:g.81944259G>A	ENSP00000352336:p.Arg623His						p.R623H	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			18	2082	+			623	R -> P (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).		SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1868G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219828	0.95139	.	.	ENSG00000197943	ENST00000359376	D	0.93019	-3.15	4.97	4.97	0.65823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.96950	0.9004	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.938;0.979	D	0.97715	1.0193	10	0.87932	D	0	.	18.2248	0.89914	0.0:0.0:1.0:0.0	.	490;623	B4E3H3;P16885	.;PLCG2_HUMAN	H	623	ENSP00000352336:R623H	ENSP00000352336:R623H	R	+	2	0	PLCG2	80501760	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.760000	0.98935	2.320000	0.78422	0.491000	0.48974	CGC		0.632	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			7	420	0	0	0	1	0	7	420					A	81944259	G	A	81944259	3	1	276	1	0	0	0	0	1	0	0	0	12036	1087	38	1	1934	1	PLCG2	16	81944259	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	51809887	81944259	8410494	29	29847											
KRT20	54474	broad.mit.edu	37	chr17	39041184	39041184	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtccgcaccttttctAggtagctcgctagacggtca	11	13	2	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:39041184A>T	ENST00000167588.3	-	1	295	c.254T>A	c.(253-255)cTa>cAa	p.L85Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	85	Coil 1A.|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)				CACCTTTTCTAGGTAGCTCGC	0.542																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(253-255)cTa>cAa		keratin 20							93	82	86					17																	39041184		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041184A>T	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.254T>A	17.37:g.39041184A>T	ENSP00000167588:p.Leu85Gln						p.L85Q	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	295	-		Breast(137;0.000301)|Ovarian(249;0.15)	85			Coil 1A.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.254T>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985957	0.74589	.	.	ENSG00000171431	ENST00000167588	D	0.91521	-2.86	5.79	5.79	0.91817	Filament (1);	0.000000	0.46758	D	0.000272	D	0.96716	0.8928	H	0.94886	3.595	0.50632	D	0.999882	D	0.89917	1.0	D	0.91635	0.999	D	0.97781	1.0232	10	0.87932	D	0	.	16.1272	0.81404	1.0:0.0:0.0:0.0	.	85	P35900	K1C20_HUMAN	Q	85	ENSP00000167588:L85Q	ENSP00000167588:L85Q	L	-	2	0	KRT20	36294710	1.000000	0.71417	0.917000	0.36280	0.300000	0.27592	9.006000	0.93592	2.210000	0.71456	0.533000	0.62120	CTA		0.542	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			6	53	0	0	0	1	0	6	53					T	39041184	A	T	39041184	3	4	276	1	0	0	0	0	1	0	0	0	8458	420	15	5	1052	5	KRT20	17	39041184	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08		39041184	42154026	30	29848											
KCNH6	81033	broad.mit.edu	37	chr17	61621618	61621618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcctgcagatgcagccCctcccctgagcatctcagat	7	18	1	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:61621618C>T	ENST00000583023.1	+	12	2361	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	KCNH6_ENST00000314672.5_Missense_Mutation_p.P748S|KCNH6_ENST00000581784.1_Missense_Mutation_p.P695S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P695S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	784					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGATGCAGCCCCTCCCCTGAG	0.612																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2350-2352)Cct>Tct		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)																																			SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61621618C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2350C>T	17.37:g.61621618C>T	ENSP00000463533:p.Pro784Ser					KCNH6_ENST00000581784.1_Missense_Mutation_p.P695S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P748S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P695S	p.P784S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			12	2361	+			784					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2350C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	8.765	0.924638	0.18056	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99232	-5.6	5.63	2.32	0.28847	.	0.212616	0.28809	U	0.014076	D	0.95762	0.8621	L	0.47716	1.5	0.09310	N	0.999999	B;P;B;B	0.38922	0.146;0.651;0.066;0.048	B;B;B;B	0.30401	0.057;0.115;0.019;0.012	D	0.91635	0.5322	10	0.05436	T	0.98	.	4.5804	0.12255	0.318:0.4879:0.1166:0.0776	.	625;748;695;784	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	S	784;695	ENSP00000396900:P695S	ENSP00000318212:P784S	P	+	1	0	KCNH6	58975350	0.000000	0.05858	0.921000	0.36526	0.466000	0.32739	-0.396000	0.07278	0.821000	0.34540	0.655000	0.94253	CCT		0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		16	33	0	0	0	1	0	16	33					T	61621618	C	T	61621618	3	4	276	1	0	0	0	0	1	0	0	0	8036	623	22	2	2396	2	KCNH6	17	61621618	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	22580434	61621618	19573592	31	29849											
CD300A	11314	broad.mit.edu	37	chr17	72473594	72473594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccgctgctcctctccCtgctggcattgttgctgctt	10	16	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:72473594C>T	ENST00000360141.3	+	4	841	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.L55L|CD300A_ENST00000310828.5_Silent_p.L72L|CD300A_ENST00000392625.3_Silent_p.L72L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	185					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						GCTCCTCTCCCTGCTGGCATT	0.512																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(553-555)Ctg>Ttg		CD300a molecule							74	63	67					17																	72473594		2203	4300	6503	SO:0001819	synonymous_variant	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72473594C>T	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.553C>T	17.37:g.72473594C>T						CD300A_ENST00000577511.1_Silent_p.L55L|CD300A_ENST00000310828.5_Silent_p.L72L|CD300A_ENST00000392625.3_Silent_p.L72L|CD300A_ENST00000361933.3_Intron	p.L185L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			4	841	+			185					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	c.553C>T	CCDS32720.1																																																																																				0.512	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		17	67	0	0	0	1	0	17	67					T	72473594	C	T	72473594	2	4	276	1	0	0	0	0	0	0	0	1	2996	680	24	2		2	CD300A	17	72473594	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	10851976	72473594	8721616	32	29850											
MAPK4	5596	broad.mit.edu	37	chr18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggagaccgacctggcaCgcctgctggagcagggcacg	15	13	0	1	rs186595195		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					ENST00000400384.2																			1	Substitution - Missense(1)	p.R114C(1)	skin(1)	lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(340-342)Cgc>Tgc		mitogen-activated protein kinase 4							68	70	69					18																	48190668		2198	4296	6494	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190668C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.340C>T	18.37:g.48190668C>T	ENSP00000383234:p.Arg114Cys					MAPK4_ENST00000587823.1_Intron|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1376	+		Colorectal(6;0.0297)	114			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.340C>T	CCDS42437.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.13	2.443101	0.43326	.	.	ENSG00000141639	ENST00000400384	T	0.45276	0.9	5.87	3.1	0.35709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.374522	0.26522	N	0.023911	T	0.41026	0.1141	M	0.73430	2.235	0.41683	D	0.989308	B;B	0.18863	0.031;0.031	B;B	0.19391	0.025;0.025	T	0.27226	-1.0080	10	0.51188	T	0.08	-13.1557	7.513	0.27585	0.1353:0.7181:0.0:0.1466	.	114;114	Q0VG04;P31152	.;MK04_HUMAN	C	114	ENSP00000383234:R114C	ENSP00000383234:R114C	R	+	1	0	MAPK4	46444666	0.980000	0.34600	0.006000	0.13384	0.992000	0.81027	2.624000	0.46444	0.381000	0.24851	-0.215000	0.12644	CGC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		10	69	0	0	0	1	0	10	69					T	48190668	C	T	48190668	3	4	276	1	0	0	0	0	1	0	0	0	9280	536	19	1	342	1	MAPK4	18	48190668	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48190668	29886580	33	29851											
ABCA7	10347	broad.mit.edu	37	chr19	1056395	1056395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagccagcaacgcaatcCtccgtgctcacctgccccca	7	20	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:1056395C>T	ENST00000263094.6	+	33	4714	c.4483C>T	c.(4483-4485)Ctc>Ttc	p.L1495F	ABCA7_ENST00000433129.1_Missense_Mutation_p.L1495F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L1357F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1495					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)		CAACGCAATCCTCCGTGCTCA	0.612																																						ENST00000263094.6																			0				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						c.(4483-4485)Ctc>Ttc		ATP-binding cassette, sub-family A (ABC1), member 7							120	106	111					19																	1056395		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056395C>T	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.4483C>T	19.37:g.1056395C>T	ENSP00000263094:p.Leu1495Phe					ABCA7_ENST00000435683.2_Missense_Mutation_p.L1357F|ABCA7_ENST00000433129.1_Missense_Mutation_p.L1495F	p.L1495F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		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)	33	4714	+		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)	1495					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4483C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949240	0.53186	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88741	-2.42;-2.42	3.59	3.59	0.41128	.	.	.	.	.	D	0.92466	0.7608	M	0.72353	2.195	0.42349	D	0.99236	D	0.89917	1.0	D	0.97110	1.0	D	0.92276	0.5829	9	0.87932	D	0	.	8.0496	0.30570	0.0:0.8835:0.0:0.1165	.	1495	Q8IZY2	ABCA7_HUMAN	F	1495	ENSP00000263094:L1495F;ENSP00000414062:L1495F	ENSP00000263094:L1495F	L	+	1	0	ABCA7	1007395	1.000000	0.71417	0.761000	0.31378	0.348000	0.29142	4.656000	0.61483	1.856000	0.53863	0.555000	0.69702	CTC		0.612	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		23	66	0	0	0	1	0	23	66					T	1056395	C	T	1056395	3	4	276	1	0	0	0	0	1	0	0	0	37	681	24	2	4609	2	ABCA7	19	1056395	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		1056395	58072588	34	29852											
FCHO1	23149	broad.mit.edu	37	chr19	17895689	17895689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagatcctgctgcctgtGggggagcctgtgaccaacgt	14	12	0	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:17895689G>A	ENST00000596536.1	+	26	2665	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	FCHO1_ENST00000594202.1_Silent_p.V794V|FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000596951.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V|FCHO1_ENST00000597512.1_Silent_p.V801V	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	794	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2380-2382)gtG>gtA		FCH domain only 1							59	57	58					19																	17895689		2203	4300	6503	SO:0001819	synonymous_variant	23149							g.chr19:17895689G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2382G>A	19.37:g.17895689G>A			OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V|FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000596536.1_Silent_p.V794V|FCHO1_ENST00000596951.1_Silent_p.V794V|FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000597512.1_Silent_p.V801V	p.V794V	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			26	2661	+			794					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	c.2382G>A	CCDS32955.1																																																																																				0.652	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		18	118	0	0	0	1	0	18	118					A	17895689	G	A	17895689	2	1	276	1	0	0	0	0	0	0	0	1	5787	1335	47	2		2	FCHO1	19	17895689	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	16839294	17895689	41233294	35	29853											
MYH14	79784	broad.mit.edu	37	chr19	50812434	50812434	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacactgaggaaccggcttcGgtatggtcatcccacgtaca	10	13	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:50812434G>T	ENST00000596571.1	+	39	5837	c.5837G>T	c.(5836-5838)cGa>cTa	p.R1946L	MYH14_ENST00000598205.1_Splice_Site_p.R1954L|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000440075.2_Splice_Site_p.R1987L|MYH14_ENST00000262269.8_Splice_Site_p.R1987L|MYH14_ENST00000425460.1_Splice_Site_p.R1954L|MYH14_ENST00000376970.2_Splice_Site_p.R1979L|MYH14_ENST00000601313.1_Splice_Site_p.R1987L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1946					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)		AACCGGCTTCGGTATGGTCAT	0.632																																						ENST00000440075.2																			0				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						c.e42+1		myosin, heavy chain 14, non-muscle							93	92	92					19																	50812434		2100	4224	6324	SO:0001630	splice_region_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812434G>T	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.5837+1G>T	19.37:g.50812434G>T						MYH14_ENST00000601313.1_Splice_Site_p.R1987_splice|MYH14_ENST00000598205.1_Splice_Site_p.R1954_splice|MYH14_ENST00000596571.1_Splice_Site_p.R1946_splice|MYH14_ENST00000425460.1_Splice_Site_p.R1954_splice|MYH14_ENST00000376970.2_Splice_Site_p.R1979_splice|MYH14_ENST00000262269.8_Splice_Site_p.R1987_splice	p.R1987_splice			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	42	6007	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1946					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Splice_Site	SNP	ENST00000596571.1	37	c.5960_splice	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991438	0.74703	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	3.69	3.69	0.42338	Myosin tail (1);	.	.	.	.	D	0.91061	0.7187	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.71414	0.954;0.973;0.972	D	0.92557	0.6055	9	0.87932	D	0	.	13.3071	0.60359	0.0:0.0:1.0:0.0	.	1987;1946;1954	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	L	1987;1979;1954;1730;1987	ENSP00000406273:R1987L;ENSP00000366169:R1979L;ENSP00000407879:R1954L;ENSP00000262269:R1987L	ENSP00000262269:R1987L	R	+	2	0	MYH14	55504246	1.000000	0.71417	0.997000	0.53966	0.499000	0.33736	9.004000	0.93583	2.086000	0.62901	0.313000	0.20887	CGA		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	Missense_Mutation	7	133	1	0	7.48243e-07	1	8.16265e-07	7	133					T	50812434	G	T	50812434	5	4	276	1	0	0	0	0	0	0	1	0	10033	1130	39	4	6122	4	MYH14	19	50812434	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	32916745	50812434	8316549	36	29854											
C20orf26	26074	broad.mit.edu	37	chr20	20271009	20271009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgccattccaactcccttgGaggtacaaatggcacagcct	8	14	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:20271009G>A	ENST00000245957.5	+	24	3266	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	C20orf26_ENST00000377309.2_Nonsense_Mutation_p.W310*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1064										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)		AACTCCCTTGGAGGTACAAAT	0.348																																						ENST00000377309.2																			0				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						c.(928-930)tgG>tgA		chromosome 20 open reading frame 26							71	78	75					20																	20271009		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20271009G>A																												ENST00000245957.5:c.3190G>A	20.37:g.20271009G>A	ENSP00000245957:p.Glu1064Lys					C20orf26_ENST00000245957.5_Missense_Mutation_p.E1064K	p.W310*			Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2976	+			0					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Nonsense_Mutation	SNP	ENST00000245957.5	37	c.930G>A	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	18.191983|18.191983	0.99901|0.99901	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957|ENST00000377309	T|.	0.09073|.	3.02|.	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	0.815237|.	0.11693|.	N|.	0.538638|.	T|.	0.39279|.	0.1072|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.24823|.	0.112|.	B|.	0.20955|.	0.032|.	T|.	0.19811|.	-1.0294|.	10|.	0.33940|.	T|.	0.23|.	.|.	10.9075|10.9075	0.47088|0.47088	0.1458:0.0:0.8542:0.0|0.1458:0.0:0.8542:0.0	.|.	1064|.	Q8NHU2|.	CT026_HUMAN|.	K|X	1004;1030;1064|310	ENSP00000245957:E1064K|.	ENSP00000245957:E1064K|.	E|W	+|+	1|3	0|0	C20orf26|C20orf26	20219009|20219009	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.379000|0.379000	0.30106|0.30106	4.197000|4.197000	0.58413|0.58413	1.297000|1.297000	0.44761|0.44761	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.348	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			14	40	0	0	0	1	0	14	40					A	20271009	G	A	20271009	3	1	276	1	0	0	0	0	1	0	0	0	2106	1175	41	2	3312	2	C20orf26	20	20271009	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		20271009	42754511	37	29855											
ACOT8	10005	broad.mit.edu	37	chr20	44472287	44472287	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccactggtgaggcagCagtgcagtgcccaagaaggc	15	11	0	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:44472287C>G	ENST00000217455.4	-	5	810	c.720G>C	c.(718-720)ctG>ctC	p.L240L		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	240					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAGGCAGCAGTGCAGTGC	0.597																																						ENST00000217455.4																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(718-720)ctG>ctC		acyl-CoA thioesterase 8							69	59	63					20																	44472287		2203	4300	6503	SO:0001819	synonymous_variant	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44472287C>G	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"Acyl CoA thioesterases"	15919	protein-coding gene	gene with protein product	"choloyl-CoA hydrolase"	608123	"peroxisomal acyl-CoA thioesterase", "peroxisomal acyl-CoA thioesterase 1"	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.720G>C	20.37:g.44472287C>G							p.L240L	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN			5	810	-		Myeloproliferative disorder(115;0.0122)	240					O15261|Q17RX4	Silent	SNP	ENST00000217455.4	37	c.720G>C	CCDS13378.1																																																																																				0.597	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		15	46	0	0	0	1	0	15	46					G	44472287	C	G	44472287	2	3	276	1	0	0	0	0	0	0	0	1	156	697	25	4		4	ACOT8	20	44472287	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	24201278	44472287	18553233	38	29856											
ITSN1	6453	broad.mit.edu	37	chr21	35094910	35094910	+	Frame_Shift_Del	DEL	T	T	-													caggtgatcaagctagaaacTttttttttcaatctgggtta							TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:35094910delT	ENST00000381318.3	+	4	427	c.139delT	c.(139-141)tttfs	p.F49fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F49fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	49	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTAGAAACTTTTTTTTTCA	0.279																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(139-141)ttfs		intersectin 1 (SH3 domain protein)							67	69	68					21																	35094910		2201	4291	6492	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35094910delT	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.139delT	21.37:g.35094910delT	ENSP00000370719:p.Phe49fs					ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F49fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.F49fs	p.F49fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			4	427	+			49			EH 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.139delT	CCDS33545.1																																																																																				0.279	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		3	3						3	3	---	---	---	---	-	35094910	T	-	35094910	7	5	276	1	0	1	0	1	0	0	0	0	7926	1609	56	0	149	0	ITSN1	21	35094910	Frame_Shift_Del	DEL	T	TCGA-HT-7854-01A-11D-2253-08		35094910	13034985	39	29857											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011553	46011553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccagagcagacgggcacAcagcaggcgtgctggcaggg	17	13	0	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:46011553A>G	ENST00000400368.1	-	1	833	c.813T>C	c.(811-813)tgT>tgC	p.C271C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	271	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACGGGCACACAGCAGGCGT	0.647																																						ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(811-813)tgT>tgC		keratin associated protein 10-6							115	116	116					21																	46011553		2203	4300	6503	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011553A>G	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"Keratin associated proteins"	20523	protein-coding gene	gene with protein product			"keratin associated protein 18-6"	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.813T>C	21.37:g.46011553A>G						TSPEAR_ENST00000323084.4_Intron	p.C271C	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	833	-			271			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.813T>C	CCDS42959.1																																																																																				0.647	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		6	269	0	0	0	1	0	6	269					G	46011553	A	G	46011553	2	3	276	1	0	0	0	0	0	0	0	1	8513	157	6	3		3	KRTAP10-6	21	46011553	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08	10916643	46011553	2118342	40	29858											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	12	11	1	2	rs141527317	byFrequency	TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.S1192S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74	68	70		3576	-9.2	0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		5	91	0	0	0	1	0	5	91					G	50659212	A	G	50659212	2	3	276	1	0	0	0	0	0	0	0	1	16767	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08		50659212	645354	41	29859											
TAF1	6872	broad.mit.edu	37	chrX	70621406	70621406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggggcatgtggtgccattgGacacatgaggactaacaaat	13	7	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:70621406G>T	ENST00000373790.4	+	25	3863	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	TAF1_ENST00000423759.1_Missense_Mutation_p.G1292V|TAF1_ENST00000449580.1_Missense_Mutation_p.G1271V|TAF1_ENST00000276072.3_Missense_Mutation_p.G1292V	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	1271					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)			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)				GGTGCCATTGGACACATGAGG	0.458																																						ENST00000449580.1																			0				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						c.(3811-3813)gGa>gTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							89	75	79					X																	70621406		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70621406G>T		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.3812G>T	X.37:g.70621406G>T	ENSP00000362895:p.Gly1271Val					TAF1_ENST00000373790.4_Missense_Mutation_p.G1271V|TAF1_ENST00000276072.3_Missense_Mutation_p.G1292V|TAF1_ENST00000423759.1_Missense_Mutation_p.G1292V	p.G1271V			P21675	TAF1_HUMAN			25	3863	+	Renal(35;0.156)	all_lung(315;0.000321)	1271					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3812G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.586111|4.586111	0.86851|0.86851	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|D;D;D;D	.|0.91295	.|-2.82;-2.82;-2.82;-2.82	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95617|0.95617	0.8575|0.8575	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.96029|0.96029	0.9015|0.9015	5|10	.|0.87932	.|D	.|0	.|.	18.6033|18.6033	0.91257|0.91257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1271;1271;1292	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	Y|V	182|1271;1271;1292;1292	.|ENSP00000362895:G1271V;ENSP00000389000:G1271V;ENSP00000406549:G1292V;ENSP00000276072:G1292V	.|ENSP00000276072:G1292V	D|G	+|+	1|2	0|0	TAF1|TAF1	70538131|70538131	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.975000|0.975000	0.68041|0.68041	9.472000|9.472000	0.97709|0.97709	2.337000|2.337000	0.79520|0.79520	0.418000|0.418000	0.28097|0.28097	GAC|GGA		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		14	14	1	0	1.3612e-06	1	1.45195e-06	14	14					T	70621406	G	T	70621406	3	4	276	1	0	0	0	0	1	0	0	0	15510	1174	41	4	3973	4	TAF1	23	70621406	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		70621406	84649154	42	29860											
TCEB3	6924	broad.mit.edu	37	chr1	24077560	24077561	+	Frame_Shift_Del	DEL	AA	AA	-													catgagaggagagatgagagAaagaggtgtcacagaatgtc							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:24077560_24077561delAA	ENST00000418390.2	+	4	814_815	c.543_544delAA	c.(541-546)agaaagfs	p.K182fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K156fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	182					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		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;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGATGAGAGAAAGAGGTGTCA	0.48																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(541-546)agagfs		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)																																				SO:0001589	frameshift_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077560_24077561delAA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.543_544delAA	1.37:g.24077560_24077561delAA	ENSP00000395574:p.Lys182fs						p.RK181fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	814_815	+		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)	181					B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	c.543_544delAA	CCDS239.2																																																																																				0.48	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		50	121						50	121	---	---	---	---	-	24077561	AA	-	24077560	7	5	277	1	0	1	0	1	0	0	0	0	15678	243	9	0	557	0	TCEB3	1	24077560	Frame_Shift_Del	DEL	AA	TCGA-HT-7855-01A-11D-2395-08		24077560	225173061	1	29861											
GBP2	2634	broad.mit.edu	37	chr1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-													aaaatgttccctgcttgacaTcttcttctaaagggccaaat							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89578261_89578263delTCT	ENST00000370466.3	-	8	1522_1524	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	418					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E418delE(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438																																						ENST00000370466.3																			1	Deletion - In frame(1)	p.E418delE(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(1252-1257)gat>ga		guanylate binding protein 2, interferon-inducible																																				SO:0001651	inframe_deletion	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89578261_89578263delTCT	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1254_1256delAGA	1.37:g.89578267_89578269delTCT	ENSP00000359497:p.Glu418del					GBP2_ENST00000463660.1_5'UTR	p.ED418del	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	8	1522_1524	-		Lung NSC(277;0.0908)	418					Q6GPH0|Q6IAU2|Q86TB0	In_Frame_Del	DEL	ENST00000370466.3	37	c.1254_1256delAGA	CCDS719.1																																																																																				0.438	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		40	192						40	192	---	---	---	---	-	89578263	TCT	-	89578261	7	5	277	1	0	1	0	1	0	0	0	0	6274	1435	50	0	535	0	GBP2	1	89578261	In_Frame_Del	DEL	TCT	TCGA-HT-7855-01A-11D-2395-08	65500701	89578261	159672360	2	29862											
GBP7	388646	broad.mit.edu	37	chr1	89615082	89615083	+	Frame_Shift_Del	DEL	GT	GT	-													cacgtccagcagctcctggaGtgtgtctgtggggaatctca							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89615082_89615083delGT	ENST00000294671.2	-	7	1182_1183	c.1044_1045delAC	c.(1042-1047)acactcfs	p.L349fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	349						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTCCTGGAGTGTGTCTGTGG	0.535																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1042-1047)actcfs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89615082_89615083delGT	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1044_1045delAC	1.37:g.89615086_89615087delGT	ENSP00000294671:p.Leu349fs						p.TL348fs	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	7	1182_1183	-		Lung NSC(277;0.0908)	348						Frame_Shift_Del	DEL	ENST00000294671.2	37	c.1044_1045delAC	CCDS720.1																																																																																				0.535	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		11	147						11	147	---	---	---	---	-	89615083	GT	-	89615082	7	5	277	1	0	1	0	1	0	0	0	0	6279	1029	36	0	891	0	GBP7	1	89615082	Frame_Shift_Del	DEL	GT	TCGA-HT-7855-01A-11D-2395-08	36821	89615082	159635539	3	29863											
FLG	2312	broad.mit.edu	37	chr1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggaaagaccctgaacgtCgagacctttcccctgaccgg	11	13	0	5	rs142483068	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:152284999C>T	ENST00000368799.1	-	3	2398	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	788	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)			CCCTGAACGTCGAGACCTTTC	0.567									Ichthyosis																													ENST00000368799.1																			0				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						c.(2362-2364)cGa>cAa		filaggrin		C	GLN/ARG	0,4406		0,0,2203	308	295	300		2363	-0.5	0	1	dbSNP_134	300	3,8597		0,3,4297	no	missense	FLG	NM_002016.1	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	788/4062	152284999	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284999C>T	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.2363G>A	1.37:g.152284999C>T	ENSP00000357789:p.Arg788Gln					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R788Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2398	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		788			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2363G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.134	1.012209	0.19277	0.0	3.49E-4	ENSG00000143631	ENST00000368799	T	0.04234	3.67	3.04	-0.509	0.11977	.	.	.	.	.	T	0.00608	0.0020	N	0.24115	0.695	0.09310	N	1	P	0.39404	0.672	B	0.18561	0.022	T	0.46400	-0.9194	9	0.13853	T	0.58	.	5.0933	0.14720	0.0:0.4563:0.4109:0.1328	.	788	P20930	FILA_HUMAN	Q	788	ENSP00000357789:R788Q	ENSP00000357789:R788Q	R	-	2	0	FLG	150551623	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.262000	0.08682	0.039000	0.15632	0.479000	0.44913	CGA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		147	385	0	0	0	1	0	147	385					T	152284999	C	T	152284999	3	4	277	1	0	0	0	0	1	0	0	0	5922	884	31	1	9826	1	FLG	1	152284999	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	62669917	152284999	96965622	4	29864											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931587	155931587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtccatgcggttgtagaTctcctgcagacgggcccctt	13	12	1	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:155931587T>C	ENST00000361247.4	-	11	1432	c.1333A>G	c.(1333-1335)Atc>Gtc	p.I445V	ARHGEF2_ENST00000462460.2_Missense_Mutation_p.I490V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.I417V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.I417V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.I446V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.I444V|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	445					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)					CGGTTGTAGATCTCCTGCAGA	0.607																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1249-1251)Atc>Gtc		Rho/Rac guanine nucleotide exchange factor (GEF) 2							71	71	71					1																	155931587		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931587T>C	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.1333A>G	1.37:g.155931587T>C	ENSP00000354837:p.Ile445Val					ARHGEF2_ENST00000368315.3_Missense_Mutation_p.I446V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.I445V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.I417V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.I444V	p.I417V			Q92974	ARHG2_HUMAN			15	1719	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		445			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1249A>G	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.581266	0.65992	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	4.95	4.95	0.65309	Dbl homology (DH) domain (2);	0.000000	0.49305	D	0.000160	T	0.70072	0.3182	M	0.62723	1.935	0.43103	D	0.994793	P;P;P;P	0.49358	0.874;0.874;0.705;0.923	B;P;P;P	0.54270	0.338;0.562;0.632;0.747	T	0.72268	-0.4343	10	0.45353	T	0.12	-27.8373	12.8802	0.58012	0.0:0.0:0.0:1.0	.	490;489;445;444	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	417;445;446;417;490;418;444	ENSP00000315325:I417V;ENSP00000354837:I445V;ENSP00000357298:I446V;ENSP00000357299:I417V;ENSP00000314787:I444V	ENSP00000314787:I444V	I	-	1	0	ARHGEF2	154198211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.824000	0.39072	2.199000	0.70637	0.533000	0.62120	ATC		0.607	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		43	48	0	0	0	1	0	43	48					C	155931587	T	C	155931587	3	2	277	1	0	0	0	0	1	0	0	0	903	1435	50	3	1675	3	ARHGEF2	1	155931587	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	3646588	155931587	93319034	5	29865											
IFI16	3428	broad.mit.edu	37	chr1	158988254	158988254	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagaaaatcatcatcatatCagattatttggaatatgata	5	4	4	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:158988254C>T	ENST00000295809.7	+	5	1040	c.785C>T	c.(784-786)tCa>tTa	p.S262L	IFI16_ENST00000340979.6_Missense_Mutation_p.S262L|IFI16_ENST00000368131.4_Missense_Mutation_p.S262L|IFI16_ENST00000359709.3_Missense_Mutation_p.S206L|IFI16_ENST00000430894.2_Missense_Mutation_p.S210L|IFI16_ENST00000368132.3_Missense_Mutation_p.S262L|IFI16_ENST00000448393.2_Missense_Mutation_p.S262L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	262	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATCATCATATCAGATTATTTG	0.368																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(784-786)tCa>tTa		interferon, gamma-inducible protein 16							67	69	68					1																	158988254		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988254C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.785C>T	1.37:g.158988254C>T	ENSP00000295809:p.Ser262Leu					IFI16_ENST00000368131.4_Missense_Mutation_p.S262L|IFI16_ENST00000368132.3_Missense_Mutation_p.S262L|IFI16_ENST00000359709.3_Missense_Mutation_p.S206L|IFI16_ENST00000340979.6_Missense_Mutation_p.S262L|IFI16_ENST00000448393.2_Missense_Mutation_p.S262L|IFI16_ENST00000430894.2_Missense_Mutation_p.S210L	p.S262L			Q16666	IF16_HUMAN			5	1040	+	all_hematologic(112;0.0429)		262			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.785C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.327660|1.327660	0.24080|0.24080	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9;1.9	2.9|2.9	1.93|1.93	0.25924|0.25924	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|.	.|.	.|.	.|.	.|T	.|0.29749	.|0.0743	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76575	.|0.988;0.98;0.988	.|T	.|0.04216	.|-1.0968	.|8	.|.	.|.	.|.	.|.	7.0069|7.0069	0.24842|0.24842	0.2715:0.7285:0.0:0.0|0.2715:0.7285:0.0:0.0	.|.	.|210;262;262	.|E7EPR3;Q16666-2;Q16666	.|.;.;IF16_HUMAN	X|L	83|262;262;262;262;210	.|ENSP00000295809:S262L;ENSP00000342741:S262L;ENSP00000357113:S262L;ENSP00000357114:S262L;ENSP00000394935:S210L	.|.	Q|S	+|+	1|2	0|0	IFI16|IFI16	157254878|157254878	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.050000|0.050000	0.14768|0.14768	0.727000|0.727000	0.25999|0.25999	0.491000|0.491000	0.27793|0.27793	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.368	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		10	65	0	0	0	1	0	10	65					T	158988254	C	T	158988254	3	4	277	1	0	0	0	0	1	0	0	0	7511	838	29	2	799	2	IFI16	1	158988254	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	3056667	158988254	90262367	6	29866											
IPO9	55705	broad.mit.edu	37	chr1	201817721	201817721	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagccatgcgtgtgctgacAggtaccagaagcccttttcc	12	12	0	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:201817721A>G	ENST00000361565.4	+	4	582	c.513A>G	c.(511-513)acA>acG	p.T171T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	171					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						GTGTGCTGACAGGTACCAGAA	0.512																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.e4+1		importin 9							114	94	101					1																	201817721		2203	4300	6503	SO:0001630	splice_region_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201817721A>G	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.514+1A>G	1.37:g.201817721A>G						IPO9_ENST00000464348.1_3'UTR	p.T171_splice	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			4	582	+			171					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Splice_Site	SNP	ENST00000361565.4	37	c.514_splice	CCDS1415.1																																																																																				0.512	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	Silent	19	25	0	0	0	1	0	19	25					G	201817721	A	G	201817721	5	3	277	1	0	0	0	0	0	0	1	0	7799	202	7	3	527	3	IPO9	1	201817721	Splice_Site	SNP	A	TCGA-HT-7855-01A-11D-2395-08	42829467	201817721	47432900	7	29867											
IL18R1	8809	broad.mit.edu	37	chr2	102984511	102984511	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagttgaatgacacaggatcTtactttttccaaatgaagtg	9	6	1	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:102984511T>A	ENST00000409599.1	+	4	641	c.285T>A	c.(283-285)tcT>tcA	p.S95S	IL18R1_ENST00000334376.3_Silent_p.S95S|IL18R1_ENST00000233957.1_Silent_p.S95S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	95	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACACAGGATCTTACTTTTTCC	0.403																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(283-285)tcT>tcA		interleukin 18 receptor 1							170	170	170					2																	102984511		2203	4300	6503	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102984511T>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.285T>A	2.37:g.102984511T>A						IL18R1_ENST00000233957.1_Silent_p.S95S|IL18R1_ENST00000334376.3_Silent_p.S95S	p.S95S			Q13478	IL18R_HUMAN			4	641	+			95			Ig-like C2-type 1.		B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.285T>A	CCDS2060.1																																																																																				0.403	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		12	128	0	0	0	1	0	12	128					A	102984511	T	A	102984511	2	1	277	1	0	0	0	0	0	0	0	1	7647	1596	56	5		5	IL18R1	2	102984511	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		102984511	140214862	8	29868											
UXS1	80146	broad.mit.edu	37	chr2	106710502	106710505	+	Frame_Shift_Del	DEL	CTTT	CTTT	-													tcagctgtggcgagtccgtcCtttctttattctggcaggct							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:106710502_106710505delCTTT	ENST00000409501.3	-	15	1297_1300	c.1240_1243delAAAG	c.(1240-1245)aaaggafs	p.KG414fs	UXS1_ENST00000409032.1_Frame_Shift_Del_p.KG246fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.KG357fs|UXS1_ENST00000283148.7_Frame_Shift_Del_p.KG419fs			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	414					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGAGTCCGTCCTTTCTTTATTCTG	0.412																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1255-1260)gafs		UDP-glucuronate decarboxylase 1																																				SO:0001589	frameshift_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710502_106710505delCTTT	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1240_1243delAAAG	2.37:g.106710506_106710509delCTTT	ENSP00000387019:p.Lys414fs					UXS1_ENST00000409032.1_Frame_Shift_Del_p.KG246fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.KG357fs|UXS1_ENST00000409501.3_Frame_Shift_Del_p.KG414fs	p.KG419fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			15	1352_1355	-			414					Q8NBX3|Q9H5C2	Frame_Shift_Del	DEL	ENST00000409501.3	37	c.1255_1258delAAAG	CCDS46378.1																																																																																				0.412	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		35	32						35	32	---	---	---	---	-	106710505	CTTT	-	106710502	7	5	277	1	0	1	0	1	0	0	0	0	17106	690	24	0	23	0	UXS1	2	106710502	Frame_Shift_Del	DEL	CTTT	TCGA-HT-7855-01A-11D-2395-08	3725991	106710502	136488871	9	29869											
CCNYL1	151195	broad.mit.edu	37	chr2	208605430	208605433	+	Splice_Site	DEL	AGTA	AGTA	-													gagagatcacatccacttacAgtaagtgtcactttttttga							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:208605430_208605433delAGTA	ENST00000295414.3	+	6	730	c.519delAGTA	c.(517-519)aca>ac	p.T173fs	CCNYL1_ENST00000392209.3_Splice_Site_p.T103fs|CCNYL1_ENST00000339882.5_Intron			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	173	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		ATCCACTTACAGTAAGTGTCACTT	0.289																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.e6+1		cyclin Y-like 1																																				SO:0001630	splice_region_variant	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208605430_208605433delAGTA	AK095479	CCDS2377.1, CCDS46503.1	2q33.3	2008-02-05			ENSG00000163249	ENSG00000163249			26868	protein-coding gene	gene with protein product							Standard	NM_152523		Approved	FLJ40432	uc002vci.3	Q8N7R7	OTTHUMG00000132946	ENST00000295414.3:c.519+1AGTA>-	2.37:g.208605430_208605433delAGTA						CCNYL1_ENST00000339882.5_Intron|CCNYL1_ENST00000392209.3_Splice_Site_p.103_splice	p.173_splice			Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	6	730	+			173			Cyclin N-terminal.		Q6NX60	Splice_Site	DEL	ENST00000295414.3	37	c.519_splice																																																																																					0.289	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523	Frame_Shift_Del	7	37						7	37	---	---	---	---	-	208605433	AGTA	-	208605430	8	5	277	1	0	1	0	1	0	0	1	0	2937	202	7	0	541	0	CCNYL1	2	208605430	Splice_Site	DEL	AGTA	TCGA-HT-7855-01A-11D-2395-08	101894928	208605430	34593943	10	29870											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	47	0	0	0	1	0	40	47					A	209113113	G	A	209113113	3	1	277	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	507683	209113113	34086260	11	29871											
ABCA12	26154	broad.mit.edu	37	chr2	215843555	215843555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtggtatctgaaatgccGtagcacccgatgttgaggtc	13	9	1	2	rs371166748		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:215843555G>A	ENST00000272895.7	-	32	5169	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y	ABCA12_ENST00000389661.4_Silent_p.Y1332Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1650					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)		CTGAAATGCCGTAGCACCCGA	0.458																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				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						c.(4948-4950)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 12							136	121	126					2																	215843555		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843555G>A	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.4950C>T	2.37:g.215843555G>A						ABCA12_ENST00000389661.4_Silent_p.Y1332Y	p.Y1650Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	32	5169	-		Renal(323;0.127)	1650					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.4950C>T	CCDS33372.1																																																																																				0.458	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		7	135	0	0	0	1	0	7	135					A	215843555	G	A	215843555	2	1	277	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215843555	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	6730442	215843555	27355818	12	29872											
SEC22A	26984	broad.mit.edu	37	chr3	122944084	122944085	+	Frame_Shift_Ins	INS	-	-	CCGATGGAGT													catgtgcgaactggggtcagINSccaatggagtcacatcagca							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:122944084_122944085insCCGATGGAGT	ENST00000309934.4	+	3	1377_1378	c.481_482insCCGATGGAGT	c.(481-483)gccfs	p.-161fs	SEC22A_ENST00000492595.1_Frame_Shift_Ins_p.-161fs|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACTGGGGTCAGCCAATGGAGTC	0.396																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(481-483)caafs		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122944084_122944085insCCGATGGAGT	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	Exception_encountered	3.37:g.122944084_122944085insCCGATGGAGT	ENSP00000310521:p.Ala161fs					SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Frame_Shift_Ins_p.Q161fs	p.Q161fs	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	3	1377_1378	+			161					B2RE26|Q9Y682	Frame_Shift_Ins	INS	ENST00000309934.4	37	c.481_482insCCGATGGAGT	CCDS3021.1																																																																																				0.396	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		18	164						18	164	---	---	---	---	CCGATGGAGT	122944085	-	CCGATGGAGT	122944084	7	5	277	1	0	1	1	0	0	0	0	0	13988	971	34	0	491	0	SEC22A	3	122944084	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		122944084	75078346	13	29873											
ZXDC	79364	broad.mit.edu	37	chr3	126191130	126191133	+	Frame_Shift_Del	DEL	ATAA	ATAA	-													aaaacagggcactcactgtgAtaaatgtcttctcacagcct							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:126191130_126191133delATAA	ENST00000389709.3	-	2	976_979	c.923_926delTTAT	c.(922-927)tttatcfs	p.FI308fs	ZXDC_ENST00000336332.5_Frame_Shift_Del_p.FI308fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	308					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACTCACTGTGATAAATGTCTTCTC	0.475																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(922-927)tcfs		ZXD family zinc finger C																																				SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126191130_126191133delATAA	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.923_926delTTAT	3.37:g.126191130_126191133delATAA	ENSP00000374359:p.Phe308fs					ZXDC_ENST00000336332.5_Frame_Shift_Del_p.FI308fs	p.FI308fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	976_979	-			308					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.923_926delTTAT	CCDS43145.1																																																																																				0.475	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		44	77						44	77	---	---	---	---	-	126191133	ATAA	-	126191130	7	5	277	1	0	1	0	1	0	0	0	0	18249	333	12	0	1692	0	ZXDC	3	126191130	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7855-01A-11D-2395-08	3247046	126191130	71831300	14	29874											
SLCO2A1	6578	broad.mit.edu	37	chr3	133654661	133654661	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtaggcgcaggcccctcGcctccccaagcacagcgagt	11	16	0	0			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:133654661G>A	ENST00000310926.4	-	13	2044	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.R515*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	591					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)	CAGGCCCCTCGCCTCCCCAAG	0.602																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1771-1773)Cga>Tga		solute carrier organic anion transporter family, member 2A1							73	62	65					3																	133654661		2203	4300	6503	SO:0001587	stop_gained	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133654661G>A		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.1771C>T	3.37:g.133654661G>A	ENSP00000311291:p.Arg591*					SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.R515*	p.R591*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			13	2044	-			591					Q86V98|Q8IUN2	Nonsense_Mutation	SNP	ENST00000310926.4	37	c.1771C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128034	0.77549	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.4	2.32	0.28847	.	0.242115	0.38897	N	0.001527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4451	0.32836	0.0:0.1758:0.323:0.5012	.	.	.	.	X	591;515	.	ENSP00000311291:R591X	R	-	1	2	SLCO2A1	135137351	0.998000	0.40836	0.989000	0.46669	0.134000	0.20937	2.169000	0.42434	0.795000	0.33922	0.561000	0.74099	CGA		0.602	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		4	28	0	0	0	1	0	4	28					A	133654661	G	A	133654661	4	1	277	1	0	0	0	0	0	1	0	0	14726	1095	38	1	168	1	SLCO2A1	3	133654661	Nonsense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	7463531	133654661	64367769	15	29875											
ATP13A5	344905	broad.mit.edu	37	chr3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttacaggaaacttcagtgtgGataagtagaggcagaatacc	11	6	1	2	rs12637558	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:193081122G>T	ENST00000342358.4	-	3	404	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96			S -> Y (in dbSNP:rs12637558). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S96F(1)|p.S96Y(1)		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)		CTTCAGTGTGGATAAGTAGAG	0.398													G|||	2083	0.415935	0.2133	0.4337	5008	,	,		18153	0.5764		0.4125	False		,,,				2504	0.5153					ENST00000342358.4																			2	Substitution - Missense(2)	p.S96F(1)|p.S96Y(1)	ovary(1)|NS(1)	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						c.(286-288)tCc>tAc		ATPase type 13A5		G	TYR/SER	1146,3260	409.1+/-334.9	155,836,1212	98	96	97		287	4.2	1	3	dbSNP_120	97	3666,4934	527.1+/-381.1	807,2052,1441	yes	missense	ATP13A5	NM_198505.2	144	962,2888,2653	TT,TG,GG		42.6279,26.01,36.9983	probably-damaging	96/1219	193081122	4812,8194	2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193081122G>T	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.287C>A	3.37:g.193081122G>T	ENSP00000341942:p.Ser96Tyr						p.S96Y	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	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)	3	404	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		96		S -> Y (in dbSNP:rs12637558).			Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.287C>A	CCDS33914.1	893	0.4088827838827839	119	0.241869918699187	143	0.39502762430939226	323	0.5646853146853147	308	0.40633245382585753	G	16.92	3.255259	0.59321	0.2601	0.426279	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.44881	0.91;0.91	5.06	4.17	0.49024	.	0.195010	0.36893	N	0.002353	T	0.00012	0.0000	M	0.73962	2.25	0.29320	P	0.867429	P	0.36733	0.567	B	0.41764	0.366	T	0.48980	-0.8986	9	0.59425	D	0.04	-6.0887	13.2983	0.60311	0.0:0.0:0.84:0.16	rs12637558;rs59613984	96	Q4VNC0	AT135_HUMAN	Y	96;118	ENSP00000341942:S96Y;ENSP00000389416:S118Y	ENSP00000341942:S96Y	S	-	2	0	ATP13A5	194563816	1.000000	0.71417	0.987000	0.45799	0.953000	0.61014	3.546000	0.53656	1.428000	0.47296	0.655000	0.94253	TCC		0.398	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		5	60	1	0	0.014758	1	0.0150313	5	60					T	193081122	G	T	193081122	3	4	277	1	0	0	0	0	1	0	0	0	1127	1174	41	4	3479	4	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	59426461	193081122	4941308	16	29876											
RHOH	399	broad.mit.edu	37	chr4	40245505	40245505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtgtttgagtgcgccGtccgaactgccgtcaaccag	13	12	1	1	rs200653414		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:40245505G>A	ENST00000381799.5	+	3	1223	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	RHOH_ENST00000505618.1_Missense_Mutation_p.V167I	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	167					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						TGAGTGCGCCGTCCGAACTGC	0.542																																						ENST00000381799.4																			0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(499-501)Gtc>Atc		ras homolog family member H							38	39	38					4																	40245505		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245505G>A	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.499G>A	4.37:g.40245505G>A	ENSP00000371219:p.Val167Ile					RHOH_ENST00000505618.1_Missense_Mutation_p.V167I	p.V167I	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN			3	1223	+			167						Missense_Mutation	SNP	ENST00000381799.5	37	c.499G>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	10.21	1.288823	0.23478	.	.	ENSG00000168421	ENST00000505618;ENST00000381799	T;T	0.69806	-0.43;-0.43	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	N	0.01188	-0.97	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.58289	-0.7662	10	0.02654	T	1	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	167	Q15669	RHOH_HUMAN	I	167	ENSP00000425010:V167I;ENSP00000371219:V167I	ENSP00000371219:V167I	V	+	1	0	RHOH	39921900	1.000000	0.71417	0.990000	0.47175	0.175000	0.22909	9.434000	0.97515	2.814000	0.96858	0.591000	0.81541	GTC		0.542	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		34	26	0	0	0	1	0	34	26					A	40245505	G	A	40245505	3	1	277	1	0	0	0	0	1	0	0	0	13340	1145	40	1	501	1	RHOH	4	40245505	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		40245505	150908771	17	29877											
YTHDC1	91746	broad.mit.edu	37	chr4	69203308	69203310	+	In_Frame_Del	DEL	AGG	AGG	-													acctcagaaccatctggcgtAggagatttggccctcctttc							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:69203308_69203310delAGG	ENST00000344157.4	-	3	774_776	c.439_441delCCT	c.(439-441)cctdel	p.P147del	YTHDC1_ENST00000579690.1_In_Frame_Del_p.P147del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.P147del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	147					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CATCTGGCGTAGGAGATTTGGCC	0.404																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(439-441)del		YTH domain containing 1																																				SO:0001651	inframe_deletion	91746							g.chr4:69203308_69203310delAGG	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.439_441delCCT	4.37:g.69203308_69203310delAGG	ENSP00000339245:p.Pro147del					YTHDC1_ENST00000355665.3_In_Frame_Del_p.P147del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.P147del	p.P147del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			3	774_776	-			147					Q4W5Q3|Q7Z622|Q8TF35	In_Frame_Del	DEL	ENST00000344157.4	37	c.439_441delCCT	CCDS33992.1																																																																																				0.404	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		21	37						21	37	---	---	---	---	-	69203310	AGG	-	69203308	7	5	277	1	0	1	0	1	0	0	0	0	17493	407	15	0	1802	0	YTHDC1	4	69203308	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	28957803	69203308	121950968	18	29878											
ANK2	287	broad.mit.edu	37	chr4	114277079	114277080	+	Frame_Shift_Del	DEL	CT	CT	-													ttagcagtgagccacaaagaCtctctggaagccagccctgt							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:114277079_114277080delCT	ENST00000357077.4	+	38	7358_7359	c.7305_7306delCT	c.(7303-7308)gactctfs	p.S2436fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.S2403fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2436					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)		GCCACAAAGACTCTCTGGAAGC	0.51																																						ENST00000357077.4																			0				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						c.(7303-7308)gactfs		ankyrin 2, neuronal																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114277079_114277080delCT	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.7305_7306delCT	4.37:g.114277083_114277084delCT	ENSP00000349588:p.Ser2436fs					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.DS2402fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.DS2435fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7358_7359	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2402					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	37	c.7305_7306delCT	CCDS3702.1																																																																																				0.51	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		45	66						45	66	---	---	---	---	-	114277080	CT	-	114277079	7	5	277	1	0	1	0	1	0	0	0	0	621	564	20	0	7520	0	ANK2	4	114277079	Frame_Shift_Del	DEL	CT	TCGA-HT-7855-01A-11D-2395-08	45073771	114277079	76877197	19	29879											
SLC6A3	6531	broad.mit.edu	37	chr5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctggtggaggtgcagcaCgccacgtctgcagaggggag	18	10	2	1	rs138948519		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:1422122C>T	ENST00000270349.9	-	5	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V221M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	221					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.V221M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGGTGCAGCACGCCACGTCTG	0.662																																						ENST00000270349.9																			1	Substitution - Missense(1)	p.V221M(1)	pancreas(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(661-663)Gtg>Atg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	C	MET/VAL	0,4406		0,0,2203	64	62	63		661	3.5	0.9	5	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC6A3	NM_001044.4	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	221/621	1422122	1,13005	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422122C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.661G>A	5.37:g.1422122C>T	ENSP00000270349:p.Val221Met					SLC6A3_ENST00000453492.2_Missense_Mutation_p.V221M	p.V221M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	788	-			221					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.661G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673830	0.47781	0.0	1.16E-4	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.77489	-1.1;-1.1;-1.1	4.4	3.53	0.40419	.	0.220952	0.37530	N	0.002060	D	0.85279	0.5660	M	0.89658	3.05	0.54753	D	0.999989	P	0.47191	0.891	P	0.53006	0.715	D	0.85139	0.0979	10	0.42905	T	0.14	.	10.424	0.44367	0.0:0.9015:0.0:0.0985	.	221	Q01959	SC6A3_HUMAN	M	221;221;147	ENSP00000270349:V221M;ENSP00000399806:V221M;ENSP00000429101:V147M	ENSP00000270349:V221M	V	-	1	0	SLC6A3	1475122	1.000000	0.71417	0.886000	0.34754	0.782000	0.44232	5.434000	0.66526	0.968000	0.38212	0.462000	0.41574	GTG		0.662	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		7	86	0	0	0	1	0	7	86					T	1422122	C	T	1422122	3	4	277	1	0	0	0	0	1	0	0	0	14685	536	19	1	1245	1	SLC6A3	5	1422122	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		1422122	179493138	20	29880											
C5orf34	375444	broad.mit.edu	37	chr5	43488036	43488036	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttctgtatcttttcaagTtcagaagcaacagacctgtc	6	10	4	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:43488036T>C	ENST00000306862.2	-	12	2070	c.1695A>G	c.(1693-1695)gaA>gaG	p.E565E	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	565										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TCTTTTCAAGTTCAGAAGCAA	0.318																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(1693-1695)gaA>gaG		chromosome 5 open reading frame 34							65	63	64					5																	43488036		2199	4290	6489	SO:0001819	synonymous_variant	375444							g.chr5:43488036T>C	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1695A>G	5.37:g.43488036T>C						RP11-159F24.3_ENST00000505645.1_RNA	p.E565E	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			12	2070	-	Lung NSC(6;2.07e-05)		565						Silent	SNP	ENST00000306862.2	37	c.1695A>G	CCDS3946.1																																																																																				0.318	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		3	15	0	0	0	1	0	3	15					C	43488036	T	C	43488036	2	2	277	1	0	0	0	0	0	0	0	1	2293	1722	60	3		3	C5orf34	5	43488036	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08	42065914	43488036	137427224	21	29881											
SLC12A2	6558	broad.mit.edu	37	chr5	127449952	127449952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttttcattagattgTcatggattgtgggtcaagct	11	5	3	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:127449952T>C	ENST00000262461.2	+	3	1114	c.925T>C	c.(925-927)Tca>Cca	p.S309P	SLC12A2_ENST00000343225.4_Missense_Mutation_p.S309P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	309					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CATTAGATTGTCATGGATTGT	0.373																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(925-927)Tca>Cca		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						335	315	322					5																	127449952		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127449952T>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.925T>C	5.37:g.127449952T>C	ENSP00000262461:p.Ser309Pro					SLC12A2_ENST00000343225.4_Missense_Mutation_p.S309P	p.S309P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	3	1114	+		all_cancers(142;0.0972)|Prostate(80;0.151)	309					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.925T>C	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753650	0.49362	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98862	-5.19;-5.19	5.54	5.54	0.83059	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	L	0.61218	1.895	0.80722	D	1	B;P	0.35050	0.427;0.482	B;B	0.41412	0.243;0.356	D	0.97781	1.0232	10	0.23302	T	0.38	.	14.7954	0.69873	0.0:0.0:0.0:1.0	.	309;309	P55011-3;P55011	.;S12A2_HUMAN	P	309	ENSP00000262461:S309P;ENSP00000340878:S309P	ENSP00000262461:S309P	S	+	1	0	SLC12A2	127477851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.250000	0.51445	2.323000	0.78572	0.528000	0.53228	TCA		0.373	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		51	128	0	0	0	1	0	51	128					C	127449952	T	C	127449952	3	2	277	1	0	0	0	0	1	0	0	0	14383	1667	58	3	935	3	SLC12A2	5	127449952	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	83961916	127449952	53465308	22	29882											
RELL2	285613	broad.mit.edu	37	chr5	141018562	141018564	+	In_Frame_Del	DEL	AGG	AGG	-													gagatgctgggggacagtgaAggagaagggacagtgcagct							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:141018562_141018564delAGG	ENST00000297164.3	+	3	1491_1493	c.291_293delAGG	c.(289-294)gaagga>gaa	p.G98del	RELL2_ENST00000444782.1_In_Frame_Del_p.G98del|RELL2_ENST00000521367.1_In_Frame_Del_p.G32del|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000518025.1_Intron|RELL2_ENST00000518856.1_In_Frame_Del_p.G32del|HDAC3_ENST00000305264.3_5'Flank	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	98					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)			GGGACAGTGAAGGAGAAGGGACA	0.557																																						ENST00000297164.3																			0				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(289-294)gaa>ga		RELT-like 2																																				SO:0001651	inframe_deletion	285613					integral to membrane|plasma membrane		g.chr5:141018562_141018564delAGG	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.291_293delAGG	5.37:g.141018562_141018564delAGG	ENSP00000297164:p.Gly98del					RELL2_ENST00000521367.1_In_Frame_Del_p.EG33del|RELL2_ENST00000518856.1_In_Frame_Del_p.EG33del|RELL2_ENST00000518025.1_Intron|RELL2_ENST00000444782.1_In_Frame_Del_p.EG99del	p.EG99del	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1491_1493	+			99					D3DQE2|Q6P4E7|Q6UXY2	In_Frame_Del	DEL	ENST00000297164.3	37	c.291_293delAGG	CCDS4265.1																																																																																				0.557	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		7	31						7	31	---	---	---	---	-	141018564	AGG	-	141018562	7	5	277	1	0	1	0	1	0	0	0	0	13219	69	3	0	301	0	RELL2	5	141018562	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	13568610	141018562	39896698	23	29883											
GEMIN5	25929	broad.mit.edu	37	chr5	154315435	154315438	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													atcttcatgatgaggtgaacAagtaagacagaaaattgtcc							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:154315435_154315438delAAGT	ENST00000285873.7	-	3	547_550	c.472_475delACTT	c.(472-477)acttgtfs	p.TC158fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	158					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)			TGAGGTGAACAAGTAAGACAGAAA	0.353																																						ENST00000285873.7																			0				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						c.(472-477)gtfs		gem (nuclear organelle) associated protein 5																																				SO:0001589	frameshift_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154315435_154315438delAAGT	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.472_475delACTT	5.37:g.154315435_154315438delAAGT	ENSP00000285873:p.Thr158fs						p.TC158fs	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		3	547_550	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	158					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Frame_Shift_Del	DEL	ENST00000285873.7	37	c.472_475delACTT	CCDS4330.1																																																																																				0.353	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			7	90						7	90	---	---	---	---	-	154315438	AAGT	-	154315435	7	5	277	1	0	1	0	1	0	0	0	0	6331	130	5	0	4155	0	GEMIN5	5	154315435	Frame_Shift_Del	DEL	AAGT	TCGA-HT-7855-01A-11D-2395-08	13296873	154315435	26599825	24	29884											
CCNJL	79616	broad.mit.edu	37	chr5	159707584	159707584	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagagctgcttggaggtggtGacgttgtagcgatccatgaa	15	6	0	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:159707584G>A	ENST00000393977.3	-	3	513	c.228C>T	c.(226-228)gtC>gtT	p.V76V	CCNJL_ENST00000541762.1_Silent_p.V75V|CCNJL_ENST00000257536.7_Silent_p.V76V|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000519673.1_Silent_p.V76V|CCNJL_ENST00000505287.2_Silent_p.V121V	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	76	Cyclin N-terminal.					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)			TGGAGGTGGTGACGTTGTAGC	0.622																																						ENST00000393977.3																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(226-228)gtC>gtT		cyclin J-like							88	91	90					5																	159707584		2167	4250	6417	SO:0001819	synonymous_variant	79616					nucleus		g.chr5:159707584G>A	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.228C>T	5.37:g.159707584G>A						CCNJL_ENST00000257536.7_Silent_p.V76V|CCNJL_ENST00000505287.2_Silent_p.V121V|CCNJL_ENST00000519673.1_Silent_p.V76V|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000541762.1_Silent_p.V75V	p.V76V	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	513	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	76			Cyclin N-terminal.		Q6ZN43|Q9H7W8	Silent	SNP	ENST00000393977.3	37	c.228C>T	CCDS4350.2																																																																																				0.622	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		5	99	0	0	0	1	0	5	99					A	159707584	G	A	159707584	2	1	277	1	0	0	0	0	0	0	0	1	2929	1277	45	2		2	CCNJL	5	159707584	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	5392149	159707584	21207676	25	29885											
BMP6	654	broad.mit.edu	37	chr6	7727731	7727731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgggcgccgcgcacccGctcaaccgcaagagccttct	10	21	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:7727731G>A	ENST00000283147.6	+	1	702	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	181					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCGCACCCGCTCAACCGCA	0.741																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(541-543)ccG>ccA		bone morphogenetic protein 6							7	9	8					6																	7727731		2068	4083	6151	SO:0001819	synonymous_variant	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727731G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.543G>A	6.37:g.7727731G>A							p.P181P	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	702	+	Ovarian(93;0.0721)		181					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.543G>A	CCDS4503.1																																																																																				0.741	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	13	0	0	0	1	0	3	13					A	7727731	G	A	7727731	2	1	277	1	0	0	0	0	0	0	0	1	1464	1074	38	1		1	BMP6	6	7727731	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7727731	163387336	26	29886											
ACAT2	39	broad.mit.edu	37	chr6	160199292	160199292	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcaatagttaaagaaCttggattaaacccagagaag	9	7	0	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:160199292C>G	ENST00000367048.4	+	8	2763	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	ACAT2_ENST00000541436.1_Missense_Mutation_p.L364V|ACAT2_ENST00000472052.1_3'UTR|SNORA20_ENST00000384662.1_RNA	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	335					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTTAAAGAACTTGGATTAAA	0.388																																						ENST00000367048.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(1003-1005)Ctt>Gtt		acetyl-CoA acetyltransferase 2							60	60	60					6																	160199292		2203	4300	6503	SO:0001583	missense	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160199292C>G	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	100678	"acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)", "acetyl-Coenzyme A acetyltransferase 2"			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.1003C>G	6.37:g.160199292C>G	ENSP00000356015:p.Leu335Val					ACAT2_ENST00000541436.1_Missense_Mutation_p.L364V|ACAT2_ENST00000472052.1_3'UTR	p.L335V	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	8	2763	+		Breast(66;0.000776)|Ovarian(120;0.0303)	335					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	c.1003C>G	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517000	0.44763	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.93712	-3.27;-3.27	5.38	4.52	0.55395	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.96435	0.9322	10	0.72032	D	0.01	-10.7471	10.5693	0.45192	0.0:0.8518:0.0:0.1482	.	364;335	B7Z233;Q9BWD1	.;THIC_HUMAN	V	335;364	ENSP00000356015:L335V;ENSP00000437850:L364V	ENSP00000356015:L335V	L	+	1	0	ACAT2	160119282	1.000000	0.71417	0.984000	0.44739	0.151000	0.21798	3.722000	0.54948	1.411000	0.46957	0.313000	0.20887	CTT		0.388	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		13	21	0	0	0	1	0	13	21					G	160199292	C	G	160199292	3	3	277	1	0	0	0	0	1	0	0	0	122	565	20	4	1033	4	ACAT2	6	160199292	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	152471561	160199292	10915775	27	29887											
STK31	56164	broad.mit.edu	37	chr7	23871943	23871943	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acggagaacttggataaatgTatggagaagacaagaaatgg	13	3	0	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr7:23871943T>A	ENST00000355870.3	+	24	3137	c.3018T>A	c.(3016-3018)tgT>tgA	p.C1006*	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonsense_Mutation_p.C983*|STK31_ENST00000428484.1_Nonsense_Mutation_p.C983*|STK31_ENST00000433467.2_Nonsense_Mutation_p.C983*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1006	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATAAATGTATGGAGAAGA	0.333																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2947-2949)tgT>tgA		serine/threonine kinase 31							70	78	75					7																	23871943		2203	4299	6502	SO:0001587	stop_gained	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871943T>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.3018T>A	7.37:g.23871943T>A	ENSP00000348132:p.Cys1006*					STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Nonsense_Mutation_p.C1006*|STK31_ENST00000428484.1_Nonsense_Mutation_p.C983*|STK31_ENST00000433467.2_Nonsense_Mutation_p.C983*	p.C983*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			24	3413	+			1006			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	c.2949T>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	38	6.857334	0.97889	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.82	0.993	0.19825	.	0.763910	0.11947	N	0.514054	.	.	.	.	.	.	0.49389	D	0.999784	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	1.6194	2.8975	0.05694	0.1849:0.2045:0.0:0.6106	.	.	.	.	X	1006;983;983;983	.	ENSP00000346660:C983X	C	+	3	2	STK31	23838468	0.899000	0.30636	0.045000	0.18777	0.444000	0.32077	0.801000	0.27055	0.247000	0.21414	0.260000	0.18958	TGT		0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		55	50	0	0	0	1	0	55	50					A	23871943	T	A	23871943	4	1	277	1	0	0	0	0	0	1	0	0	15295	1644	57	5	3112	5	STK31	7	23871943	Nonsense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08		23871943	135266720	28	29888											
PABPC1	26986	broad.mit.edu	37	chr8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A													tttgttttccattgagctccINStttccgttcatctcatccac					rs140822921		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|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)|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)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|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)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(760-762)agafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724994_101724995insA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.761_762insT	8.37:g.101724994_101724995insA	ENSP00000313007:p.Lys254fs					PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	p.R254fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		6	1889_1890	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		254			CSDE1-binding.|RRM 3.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.761_762insT	CCDS6289.1																																																																																				0.371	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		8	85						8	85	---	---	---	---	A	101724995	-	A	101724994	7	5	277	1	0	1	1	0	0	0	0	0	11363	680	24	0	1184	0	PABPC1	8	101724994	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		101724994	44639028	29	29889											
OR1J4	26219	broad.mit.edu	37	chr9	125281597	125281599	+	In_Frame_Del	DEL	TTC	TTC	-													ctcaccttcacacccccatgTtcttcttcctcagccacttg					rs559675076		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr9:125281597_125281599delTTC	ENST00000340750.1	+	1	178_180	c.178_180delTTC	c.(178-180)ttcdel	p.F62del		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCCCCATGTTCTTCTTCCTCA	0.498																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(178-180)del		olfactory receptor, family 1, subfamily J, member 4																																				SO:0001651	inframe_deletion	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281597_125281599delTTC	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"GPCR / Class A : Olfactory receptors"	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.178_180delTTC	9.37:g.125281603_125281605delTTC	ENSP00000343521:p.Phe62del						p.F62del	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	178_180	+			62					A3KFM0|Q6IEZ3|Q96R89	In_Frame_Del	DEL	ENST00000340750.1	37	c.178_180delTTC	CCDS35122.1																																																																																				0.498	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			133	175						133	175	---	---	---	---	-	125281599	TTC	-	125281597	7	5	277	1	0	1	0	1	0	0	0	0	10961	1725	60	0	180	0	OR1J4	9	125281597	In_Frame_Del	DEL	TTC	TCGA-HT-7855-01A-11D-2395-08		125281597	15931834	30	29890											
PTER	9317	broad.mit.edu	37	chr10	16553190	16553190	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaatgttgctgagaggcAtaactgagaatgtgcttgat	11	5	0	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr10:16553190A>C	ENST00000378000.1	+	6	1231	c.985A>C	c.(985-987)Ata>Cta	p.I329L	PTER_ENST00000298942.3_Missense_Mutation_p.I329L|PTER_ENST00000535784.2_Missense_Mutation_p.I329L|PTER_ENST00000423462.2_Missense_Mutation_p.I282L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	329					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GCTGAGAGGCATAACTGAGAA	0.383																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(985-987)Ata>Cta		phosphotriesterase related							170	162	165					10																	16553190		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16553190A>C	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.985A>C	10.37:g.16553190A>C	ENSP00000367239:p.Ile329Leu					PTER_ENST00000535784.2_Missense_Mutation_p.I329L|PTER_ENST00000298942.3_Missense_Mutation_p.I329L|PTER_ENST00000423462.2_Missense_Mutation_p.I282L	p.I329L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			6	1231	+			329					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.985A>C	CCDS7111.1	.	.	.	.	.	.	.	.	.	.	A	9.305	1.054204	0.19907	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.47177	1.22;0.85;1.22;1.22	5.86	0.706	0.18133	.	0.145725	0.64402	N	0.000009	T	0.39358	0.1075	L	0.58101	1.795	0.49915	D	0.999835	B;B	0.10296	0.003;0.003	B;B	0.15052	0.011;0.012	T	0.17018	-1.0383	10	0.36615	T	0.2	-6.683	8.7115	0.34387	0.5506:0.3838:0.0656:0.0	.	282;329	Q96BW5-2;Q96BW5	.;PTER_HUMAN	L	329;329;282;329;329	ENSP00000439485:I329L;ENSP00000389535:I282L;ENSP00000367239:I329L;ENSP00000298942:I329L	ENSP00000298942:I329L	I	+	1	0	PTER	16593196	0.980000	0.34600	0.034000	0.17996	0.116000	0.19942	2.698000	0.47068	0.094000	0.17404	0.491000	0.48974	ATA		0.383	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		7	136	0	0	0	1	0	7	136					C	16553190	A	C	16553190	3	2	277	1	0	0	0	0	1	0	0	0	12739	217	8	5	999	5	PTER	10	16553190	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		16553190	118981557	31	29891											
OR51B2	79345	broad.mit.edu	37	chr11	5345181	5345181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaacaatcatatgccAttgccaggagggaacctgat	9	9	1	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:5345181A>G	ENST00000328813.2	-	1	401	c.347T>C	c.(346-348)aTg>aCg	p.M116T	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATATGCCATTGCCAGGAG	0.458																																						ENST00000328813.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(346-348)aTg>aCg		olfactory receptor, family 51, subfamily B, member 2							94	81	86					11																	5345181		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345181A>G	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.347T>C	11.37:g.5345181A>G	ENSP00000327540:p.Met116Thr					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.M116T	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	401	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	116					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.347T>C	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.639942	0.29157	.	.	ENSG00000184881	ENST00000328813	T	0.47177	0.85	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	U	0.000280	T	0.65852	0.2731	H	0.97918	4.105	0.37088	D	0.899322	B	0.32245	0.361	B	0.34590	0.186	T	0.78344	-0.2240	10	0.87932	D	0	.	12.5391	0.56158	1.0:0.0:0.0:0.0	.	116	Q9Y5P1	O51B2_HUMAN	T	116	ENSP00000327540:M116T	ENSP00000327540:M116T	M	-	2	0	OR51B2	5301757	1.000000	0.71417	0.994000	0.49952	0.369000	0.29798	8.085000	0.89518	1.827000	0.53221	0.524000	0.50904	ATG		0.458	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		7	85	0	0	0	1	0	7	85					G	5345181	A	G	5345181	3	3	277	1	0	0	0	0	1	0	0	0	11089	217	8	3	595	3	OR51B2	11	5345181	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		5345181	129661335	32	29892											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-													caacctggtgtctctgagacAgaagaagtggccttgcagcc							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:57466855_57466857delAGA	ENST00000287169.3	+	11	3309_3311	c.1947_1949delAGA	c.(1945-1950)acagaa>aca	p.E651del	ZDHHC5_ENST00000527985.1_In_Frame_Del_p.E598del	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	651					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						TCTCTGAGACAGAAGAAGTGGCC	0.512																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1945-1950)aca>ac		zinc finger, DHHC-type containing 5																																				SO:0001651	inframe_deletion	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466855_57466857delAGA	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.1947_1949delAGA	11.37:g.57466858_57466860delAGA	ENSP00000287169:p.Glu651del					ZDHHC5_ENST00000527985.1_In_Frame_Del_p.TE596del	p.TE649del	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	3309_3311	+			649					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	In_Frame_Del	DEL	ENST00000287169.3	37	c.1947_1949delAGA	CCDS7965.1																																																																																				0.512	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		11	107						11	107	---	---	---	---	-	57466857	AGA	-	57466855	7	5	277	1	0	1	0	1	0	0	0	0	17615	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	52121674	57466855	77539661	33	29893											
SCGB2A2	4250	broad.mit.edu	37	chr11	62037739	62037739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctctcccagcactgctaCgcaggtgagttctgtgcagg	12	14	2	1	rs137975337	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:62037739C>T	ENST00000227918.2	+	1	113	c.51C>T	c.(49-51)taC>taT	p.Y17Y	SCGB2A2_ENST00000525380.1_Silent_p.Y17Y	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	17										large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGCACTGCTACGCAGGTGAGT	0.592																																						ENST00000525380.1																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(49-51)taC>taT		secretoglobin, family 2A, member 2		C		2,4402	4.2+/-10.8	0,2,2200	104	100	101		51	-3.3	0.7	11	dbSNP_134	101	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	SCGB2A2	NM_002411.2		0,4,6497	TT,TC,CC		0.0233,0.0454,0.0308		17/94	62037739	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	4250					extracellular region	steroid binding	g.chr11:62037739C>T	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"Secretoglobins"	7050	protein-coding gene	gene with protein product	"mammaglobin A"	605562	"mammaglobin 1"	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.51C>T	11.37:g.62037739C>T						SCGB2A2_ENST00000227918.2_Silent_p.Y17Y	p.Y17Y			Q13296	SG2A2_HUMAN			1	110	+			17					A1A522|Q86WH8	Silent	SNP	ENST00000227918.2	37	c.51C>T	CCDS8018.1																																																																																				0.592	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		94	109	0	0	0	1	0	94	109					T	62037739	C	T	62037739	2	4	277	1	0	0	0	0	0	0	0	1	13900	547	19	1		1	SCGB2A2	11	62037739	Silent	SNP	C	TCGA-HT-7855-01A-11D-2395-08	4570884	62037739	72968777	34	29894											
C12orf71	728858	broad.mit.edu	37	chr12	27234398	27234398	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggcggttgcctggcttatCatctgccatgaaaatgaagg	12	9	2	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:27234398C>A	ENST00000429849.2	-	2	549	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	173										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCTGGCTTATCATCTGCCATG	0.463																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(517-519)atG>atT		chromosome 12 open reading frame 71							110	100	103					12																	27234398		1986	4160	6146	SO:0001583	missense	728858							g.chr12:27234398C>A		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.519G>T	12.37:g.27234398C>A	ENSP00000413728:p.Met173Ile						p.M173I	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			2	549	-			173						Missense_Mutation	SNP	ENST00000429849.2	37	c.519G>T	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	4.639	0.118708	0.08881	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.39229	1.09	2.07	-2.22	0.06952	.	1.992770	0.03076	N	0.157900	T	0.22781	0.0550	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.06991	-1.0796	10	0.21540	T	0.41	.	3.5236	0.07751	0.0:0.5025:0.2192:0.2783	.	173	A8MTZ7	CL071_HUMAN	I	205;173	ENSP00000413728:M173I	ENSP00000381796:M205I	M	-	3	0	C12orf71	27125665	0.000000	0.05858	0.002000	0.10522	0.246000	0.25737	-0.522000	0.06237	-0.597000	0.05813	0.205000	0.17691	ATG		0.463	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		38	61	1	0	4.92203e-23	1	5.20599e-23	38	61					A	27234398	C	A	27234398	3	1	277	1	0	0	0	0	1	0	0	0	1712	826	29	4	294	4	C12orf71	12	27234398	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		27234398	106617497	35	29895											
CALCOCO1	57658	broad.mit.edu	37	chr12	54110173	54110175	+	In_Frame_Del	DEL	CTC	CTC	-													tccaaatttaagtgatggttCtcctgttgtgccacttggag							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:54110173_54110175delCTC	ENST00000550804.1	-	8	934_936	c.874_876delGAG	c.(874-876)gagdel	p.E292del	CALCOCO1_ENST00000548263.1_In_Frame_Del_p.E292del|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_In_Frame_Del_p.E292del			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	292					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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTGATGGTTCTCCTGTTGTGCC	0.542																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(874-876)del		calcium binding and coiled-coil domain 1																																				SO:0001651	inframe_deletion	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54110173_54110175delCTC	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.874_876delGAG	12.37:g.54110173_54110175delCTC	ENSP00000449960:p.Glu292del					CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_In_Frame_Del_p.E292del|CALCOCO1_ENST00000550804.1_In_Frame_Del_p.E292del	p.E292del			Q9P1Z2	CACO1_HUMAN			8	922_924	-			292					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	In_Frame_Del	DEL	ENST00000550804.1	37	c.874_876delGAG	CCDS8864.1																																																																																				0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		40	50						40	50	---	---	---	---	-	54110175	CTC	-	54110173	7	5	277	1	0	1	0	1	0	0	0	0	2577	912	32	0	1231	0	CALCOCO1	12	54110173	In_Frame_Del	DEL	CTC	TCGA-HT-7855-01A-11D-2395-08	26875775	54110173	79741722	36	29896											
OR10G3	26533	broad.mit.edu	37	chr14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatagtacacggtgaccaCggttacatgggctccacaag	10	12	0	1	rs142649226	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:22038134C>T	ENST00000303532.1	-	1	741	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248M(1)|p.V248L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577													C|||	8	0.00159744	0.0045	0.0014	5008	,	,		17010	0.001		0.0	False		,,,				2504	0.0					ENST00000303532.1																			2	Substitution - Missense(2)	p.V248M(1)|p.V248L(1)	large_intestine(1)|endometrium(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(742-744)Gtg>Atg		olfactory receptor, family 10, subfamily G, member 3		C	MET/VAL	17,4389	25.3+/-52.1	0,17,2186	80	86	84		742	0.8	0.6	14	dbSNP_134	84	0,8600		0,0,4300	yes	missense	OR10G3	NM_001005465.1	21	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	benign	248/314	22038134	17,12989	2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038134C>T		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"GPCR / Class A : Olfactory receptors"	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.742G>A	14.37:g.22038134C>T	ENSP00000302437:p.Val248Met						p.V248M	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	741	-	all_cancers(95;0.000987)		248					Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.742G>A	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454128	0.26161	0.003858	0.0	ENSG00000169208	ENST00000303532	T	0.00277	8.34	5.11	0.809	0.18725	GPCR, rhodopsin-like superfamily (1);	0.418145	0.17713	N	0.164506	T	0.00328	0.0010	M	0.89601	3.045	0.27113	N	0.962321	B	0.29378	0.243	B	0.34452	0.183	T	0.30090	-0.9990	10	0.62326	D	0.03	-0.2701	4.7223	0.12924	0.2979:0.5262:0.0:0.1759	.	248	Q8NGC4	O10G3_HUMAN	M	248	ENSP00000302437:V248M	ENSP00000302437:V248M	V	-	1	0	OR10G3	21107974	0.002000	0.14202	0.615000	0.29064	0.627000	0.37826	0.178000	0.16820	0.237000	0.21200	-0.291000	0.09656	GTG		0.577	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			20	110	0	0	0	1	0	20	110					T	22038134	C	T	22038134	3	4	277	1	0	0	0	0	1	0	0	0	10900	536	19	1	202	1	OR10G3	14	22038134	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		22038134	85311406	37	29897											
FBXO33	254170	broad.mit.edu	37	chr14	39870639	39870639	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttaacatatcttcactcttGatatcaaaagccattatata	2	8	4	1	rs144987416		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:39870639G>A	ENST00000298097.7	-	3	1474	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	379					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)		CTTCACTCTTGATATCAAAAG	0.398																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(1135-1137)atC>atT		F-box protein 33		G		5,4401	9.9+/-24.2	0,5,2198	84	81	82		1137	2.9	1	14	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	FBXO33	NM_203301.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		379/556	39870639	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	254170							g.chr14:39870639G>A	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.1137C>T	14.37:g.39870639G>A						FBXO33_ENST00000554190.1_Intron	p.I379I	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1474	-	Hepatocellular(127;0.213)		379					Q6PIR2|Q86TR2|Q86YE0	Silent	SNP	ENST00000298097.7	37	c.1137C>T	CCDS9677.1																																																																																				0.398	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			43	53	0	0	0	1	0	43	53					A	39870639	G	A	39870639	2	1	277	1	0	0	0	0	0	0	0	1	5743	1280	45	2		2	FBXO33	14	39870639	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	17832505	39870639	67478901	38	29898											
SLC28A2	9153	broad.mit.edu	37	chr15	45561537	45561537	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatctctctttcactcaggTcatctgctcctatctcctaa	3	14	7	0			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr15:45561537T>C	ENST00000347644.3	+	14	1435	c.1370T>C	c.(1369-1371)gTc>gCc	p.V457A	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	457					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)	TTCACTCAGGTCATCTGCTCC	0.478																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e14-1		solute carrier family 28 (concentrative nucleoside transporter), member 2							165	151	156					15																	45561537		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45561537T>C	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.1369-1T>C	15.37:g.45561537T>C						CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	p.V457_splice	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	14	1435	+		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)	457					A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37	c.1368_splice	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921711	0.73213	.	.	ENSG00000137860	ENST00000347644	T	0.05996	3.36	6.04	6.04	0.98038	Na dependent nucleoside transporter, C-terminal (1);	0.205863	0.42420	D	0.000712	T	0.06826	0.0174	N	0.20574	0.59	0.43714	D	0.996182	P	0.42871	0.792	B	0.42959	0.403	T	0.39375	-0.9617	10	0.48119	T	0.1	-24.1095	14.5284	0.67905	0.0:0.0:0.0:1.0	.	457	O43868	S28A2_HUMAN	A	457	ENSP00000315006:V457A	ENSP00000315006:V457A	V	+	2	0	SLC28A2	43348829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.317000	0.78254	0.459000	0.35465	GTC		0.478	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Missense_Mutation	32	112	0	0	0	1	0	32	112					C	45561537	T	C	45561537	5	2	277	1	0	0	0	0	0	0	1	0	14532	1681	58	3	1420	3	SLC28A2	15	45561537	Splice_Site	SNP	T	TCGA-HT-7855-01A-11D-2395-08		45561537	56969855	39	29899											
KIAA0556	23247	broad.mit.edu	37	chr16	27640072	27640072	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctatgtcaacggtgccaaTtcggagctgaaatcatcacc	9	11	4	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr16:27640072T>C	ENST00000261588.4	+	4	250	c.231T>C	c.(229-231)aaT>aaC	p.N77N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	77						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						ACGGTGCCAATTCGGAGCTGA	0.522																																						ENST00000261588.4																			0				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						c.(229-231)aaT>aaC		KIAA0556							146	130	135					16																	27640072		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27640072T>C	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.231T>C	16.37:g.27640072T>C							p.N77N	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			4	250	+			77					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.231T>C	CCDS32415.1																																																																																				0.522	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		43	142	0	0	0	1	0	43	142					C	27640072	T	C	27640072	2	2	277	1	0	0	0	0	0	0	0	1	8183	1490	52	3		3	KIAA0556	16	27640072	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		27640072	62714681	40	29900											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	15	5	1	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:7578542G>C	ENST00000269305.4	-	5	577	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.L130V|TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V|TP53_ENST00000420246.2_Missense_Mutation_p.L130V	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	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(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)	ATCTTGTTGAGGGCAGGGGAG	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	p.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(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						c.(388-390)Ctc>Gtc	Other conserved DNA damage response genes	tumor protein p53							45	46	45					17																	7578542		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578542G>C	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.388C>G	17.37:g.7578542G>C	ENSP00000269305:p.Leu130Val	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)				TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000269305.4_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V|TP53_ENST00000359597.4_Missense_Mutation_p.L130V	p.L130V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	520	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	130		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.388C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640631	0.67244	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.48	5.48	0.80851	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	0.99869	0.9938	M	0.86953	2.85	0.58432	D	0.999992	D;D;D;P;D;D;D	0.76494	0.996;0.998;0.995;0.924;0.998;0.997;0.999	P;D;D;B;D;D;D	0.91635	0.899;0.999;0.98;0.388;0.999;0.999;0.989	D	0.96621	0.9459	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130V;ENSP00000352610:L130V;ENSP00000269305:L130V;ENSP00000398846:L130V;ENSP00000391127:L130V;ENSP00000391478:L130V;ENSP00000423862:L37V;ENSP00000424104:L130V	ENSP00000269305:L130V	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	3	0	0	0	1	0	30	3					C	7578542	G	C	7578542	3	2	277	1	0	0	0	0	1	0	0	0	16378	1000	35	4	910	4	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7578542	73616668	41	29901											
MYO1F	4542	broad.mit.edu	37	chr19	8620581	8620581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgcttccggaggttggCggcaatggcgtcttcggtga	17	9	1	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:8620581C>T	ENST00000338257.8	-	2	370	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	35	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGAGGTTGGCGGCAATGGCG	0.617																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(103-105)Gcc>Acc		myosin IF							100	107	105					19																	8620581		2052	4180	6232	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8620581C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.103G>A	19.37:g.8620581C>T	ENSP00000344871:p.Ala35Thr						p.A35T	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			2	370	-			35			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.103G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432703	0.25813	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87650	-2.28	4.09	-0.418	0.12344	Myosin head, motor domain (2);	0.304713	0.29594	N	0.011716	T	0.69333	0.3099	N	0.04669	-0.19	0.23506	N	0.997537	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.14023	0.007;0.01;0.01	T	0.62310	-0.6881	10	0.62326	D	0.03	.	8.6835	0.34223	0.0:0.5913:0.0:0.4087	.	35;35;35	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	T	80;35	ENSP00000344871:A35T	ENSP00000304899:A80T	A	-	1	0	MYO1F	8526581	1.000000	0.71417	0.867000	0.34043	0.027000	0.11550	1.393000	0.34497	0.122000	0.18314	0.455000	0.32223	GCC		0.617	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			26	61	0	0	0	1	0	26	61					T	8620581	C	T	8620581	3	4	277	1	0	0	0	0	1	0	0	0	10073	768	27	1	3301	1	MYO1F	19	8620581	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		8620581	50508402	42	29902											
ICAM3	3385	broad.mit.edu	37	chr19	10445307	10445307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgtcactctcggtagcAtttagctgaagttgagctgg	12	10	2	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:10445307A>G	ENST00000160262.5	-	5	1297	c.1089T>C	c.(1087-1089)aaT>aaC	p.N363N	ICAM3_ENST00000589261.1_Silent_p.N286N|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	363	Ig-like C2-type 4.				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)			TCTCGGTAGCATTTAGCTGAA	0.632																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(856-858)aaT>aaC		intercellular adhesion molecule 3							59	59	59					19																	10445307		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445307A>G		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.1089T>C	19.37:g.10445307A>G						ICAM3_ENST00000160262.5_Silent_p.N363N	p.N286N			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		5	1390	-			363			Ig-like C2-type 3.		Q6PD68	Silent	SNP	ENST00000160262.5	37	c.858T>C	CCDS12235.1																																																																																				0.632	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			35	55	0	0	0	1	0	35	55					G	10445307	A	G	10445307	2	3	277	1	0	0	0	0	0	0	0	1	7481	214	8	3		3	ICAM3	19	10445307	Silent	SNP	A	TCGA-HT-7855-01A-11D-2395-08	1824726	10445307	48683676	43	29903											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-													gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:11106926_11106928delAGA	ENST00000429416.3	+	11	1912_1914	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546			Missing (in MRD16). {ECO:0000269|PubMed:22426308}.		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)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(1630-1635)cag>c		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001651	inframe_deletion	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11106926_11106928delAGA	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.1631_1633delAGA	19.37:g.11106929_11106931delAGA	ENSP00000395654:p.Lys546del					SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK544del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK544del	p.QK544del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	1915_1917	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	544					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	c.1631_1633delAGA	CCDS12253.1																																																																																				0.576	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		42	160						42	160	---	---	---	---	-	11106928	AGA	-	11106926	7	5	277	1	0	1	0	1	0	0	0	0	14770	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	661619	11106926	48022057	44	29904											
EID2B	126272	broad.mit.edu	37	chr19	40023429	40023429	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggacatctccaacagcccaGtcggctccgccatagtccca	8	18	1	0			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:40023429G>C	ENST00000326282.4	-	1	65	c.14C>G	c.(13-15)aCt>aGt	p.T5S	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_5'UTR	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACAGCCCAGTCGGCTCCGC	0.647											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326282.4																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(13-15)aCt>aGt		EP300 interacting inhibitor of differentiation 2B							22	25	24					19																	40023429		2135	4154	6289	SO:0001583	missense	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023429G>C	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.14C>G	19.37:g.40023429G>C	ENSP00000317564:p.Thr5Ser		OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_5'UTR	p.T5S	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	65	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		5						Missense_Mutation	SNP	ENST00000326282.4	37	c.14C>G	CCDS12539.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869199	0.32977	.	.	ENSG00000176401	ENST00000326282	T	0.32272	1.46	1.02	-0.149	0.13420	.	.	.	.	.	T	0.13372	0.0324	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.18561	0.022	T	0.28681	-1.0036	9	0.08837	T	0.75	.	4.8998	0.13769	0.0:0.3918:0.6082:0.0	.	5	Q96D98	EID2B_HUMAN	S	5	ENSP00000317564:T5S	ENSP00000317564:T5S	T	-	2	0	EID2B	44715269	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.652000	0.05366	0.008000	0.14787	0.456000	0.33151	ACT		0.647	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		10	19	0	0	0	1	0	10	19					C	40023429	G	C	40023429	3	2	277	1	0	0	0	0	1	0	0	0	4988	1029	36	4	475	4	EID2B	19	40023429	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	28916503	40023429	19105554	45	29905											
TMPRSS6	164656	broad.mit.edu	37	chr22	37469676	37469676	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctttgcactggaatgtgGctctgcaaactgtgtgggga	13	9	2	0			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:37469676G>C	ENST00000346753.3	-	13	1594	c.1478C>G	c.(1477-1479)gCc>gGc	p.A493G	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A484G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A484G|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A484G	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	493	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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						CTGGAATGTGGCTCTGCAAAC	0.587																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1450-1452)gCc>gGc		transmembrane protease, serine 6							171	143	152					22																	37469676		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37469676G>C	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.1478C>G	22.37:g.37469676G>C	ENSP00000334962:p.Ala493Gly					TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A484G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A493G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A484G	p.A484G			Q8IU80	TMPS6_HUMAN			13	1591	-			493			LDL-receptor class A 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1451C>G	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602542	0.46423	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.79	4.79	0.61399	.	0.063724	0.64402	D	0.000009	D	0.90086	0.6903	N	0.17082	0.46	0.45822	D	0.99869	B;B	0.25048	0.037;0.117	B;B	0.29524	0.024;0.103	D	0.86812	0.1999	10	0.27785	T	0.31	.	12.4026	0.55422	0.0:0.1695:0.8305:0.0	.	484;493	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	G	484;493;484;484	ENSP00000371211:A484G;ENSP00000334962:A493G;ENSP00000385453:A484G;ENSP00000384964:A484G	ENSP00000334962:A493G	A	-	2	0	TMPRSS6	35799622	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.444000	0.73452	2.216000	0.71823	0.478000	0.44815	GCC		0.587	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		11	96	0	0	0	1	0	11	96					C	37469676	G	C	37469676	3	2	277	1	0	0	0	0	1	0	0	0	16248	1203	42	4	981	4	TMPRSS6	22	37469676	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		37469676	13834890	46	29906											
ATRX	546	broad.mit.edu	37	chrX	76918950	76918951	+	Frame_Shift_Del	DEL	CA	CA	-													tctccagattctccgtcactCacagtcaatttgtgccgcaa							TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chrX:76918950_76918951delCA	ENST00000373344.5	-	12	4254_4255	c.4040_4041delTG	c.(4039-4041)gtgfs	p.V1347fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1309fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1347					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						CTCCGTCACTCACAGTCAATTT	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4039-4041)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918950_76918951delCA	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.4040_4041delTG	X.37:g.76918952_76918953delCA	ENSP00000362441:p.Val1347fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1309fs|ATRX_ENST00000480283.1_5'UTR	p.V1347fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4254_4255	-			1347					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4040_4041delTG	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		27	5						27	5	---	---	---	---	-	76918951	CA	-	76918950	7	5	277	1	0	1	0	1	0	0	0	0	1208	813	29	0	3533	0	ATRX	23	76918950	Frame_Shift_Del	DEL	CA	TCGA-HT-7855-01A-11D-2395-08		76918950	78351610	47	29907											
CLCNKB	1188	broad.mit.edu	37	chr1	16377498	16377498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggaatggtaccacccGcggttcaccatctttgggac	13	11	2	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr1:16377498G>A	ENST00000375679.4	+	12	1293	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P	CLCNKB_ENST00000375667.3_Silent_p.P225P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	394					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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		GGTACCACCCGCGGTTCACCA	0.632																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(1180-1182)ccG>ccA		chloride channel, voltage-sensitive Kb							91	96	94					1																	16377498		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16377498G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1182G>A	1.37:g.16377498G>A						CLCNKB_ENST00000375667.3_Silent_p.P225P	p.P394P	NM_000085.4	NP_000076.2				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)	12	1293	+		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)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1182G>A	CCDS168.1																																																																																				0.632	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		10	49	0	0	0	1	0	10	49					A	16377498	G	A	16377498	2	1	278	1	0	0	0	0	0	0	0	1	3470	1074	38	1		1	CLCNKB	1	16377498	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		16377498	232873123	1	29908											
C1orf89	79363	broad.mit.edu	37	chr1	16559499	16559499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctggccaaaataccacGgtggtctggatgcctgaggg	15	9	1	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr1:16559499G>A	ENST00000375599.3	-	3	698	c.279C>T	c.(277-279)acC>acT	p.T93T		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	93	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						AAAATACCACGGTGGTCTGGA	0.552																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(277-279)acC>acT		REM2 and RAB-like small GTPase 1							75	79	78					1																	16559499		2203	4300	6503	SO:0001819	synonymous_variant	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559499G>A	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.279C>T	1.37:g.16559499G>A							p.T93T	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			3	698	-			93			Small GTPase-like.		Q5TEV7	Silent	SNP	ENST00000375599.3	37	c.279C>T	CCDS171.1																																																																																				0.552	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		11	71	0	0	0	1	0	11	71					A	16559499	G	A	16559499	2	1	278	1	0	0	0	0	0	0	0	1	2066	1103	39	1		1	C1orf89	1	16559499	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08	182001	16559499	232691122	2	29909											
MERTK	10461	broad.mit.edu	37	chr2	112777090	112777090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcgagatttagctgctcGaaactgcatgtaagagtcct	9	9	1	2			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr2:112777090G>A	ENST00000295408.4	+	16	2437	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	MERTK_ENST00000409780.1_Missense_Mutation_p.R551Q|MERTK_ENST00000421804.2_Missense_Mutation_p.R727Q			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	727	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTAGCTGCTCGAAACTGCATG	0.458																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2179-2181)cGa>cAa		c-mer proto-oncogene tyrosine kinase							136	127	130					2																	112777090		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112777090G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2180G>A	2.37:g.112777090G>A	ENSP00000295408:p.Arg727Gln					MERTK_ENST00000421804.2_Missense_Mutation_p.R727Q|MERTK_ENST00000409780.1_Missense_Mutation_p.R551Q	p.R727Q			Q12866	MERTK_HUMAN			16	2437	+			727			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2180G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687545	0.96784	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.28146	U	0.016425	D	0.94584	0.8255	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95102	0.8231	10	0.87932	D	0	-17.8662	19.3044	0.94155	0.0:0.0:1.0:0.0	.	727	Q12866	MERTK_HUMAN	Q	727;727;363;551;34	ENSP00000295408:R727Q;ENSP00000389152:R727Q;ENSP00000387277:R551Q;ENSP00000412660:R34Q	ENSP00000295408:R727Q	R	+	2	0	MERTK	112493561	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.756000	0.98918	2.631000	0.89168	0.655000	0.94253	CGA		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			6	43	0	0	0	1	0	6	43					A	112777090	G	A	112777090	3	1	278	1	0	0	0	0	1	0	0	0	9479	1058	37	1	2242	1	MERTK	2	112777090	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		112777090	130422283	3	29910											
GOLGA4	2803	broad.mit.edu	37	chr3	37363363	37363363	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggaccttcagcaagaagcaGagacttacagaactgtaagt	11	8	1	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:37363363G>A	ENST00000361924.2	+	13	2061	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E585K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	563	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						GCAAGAAGCAGAGACTTACAG	0.348																																						ENST00000361924.2																			0				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						c.(1687-1689)Gag>Aag		golgin A4							49	53	52					3																	37363363		2203	4299	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37363363G>A	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.1687G>A	3.37:g.37363363G>A	ENSP00000354486:p.Glu563Lys					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E585K	p.E563K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			13	2061	+			563			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.1687G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041572	0.93685	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.31247	1.56;1.56;1.5	6.08	5.19	0.71726	.	0.000000	0.36932	N	0.002339	T	0.58736	0.2143	M	0.79475	2.455	0.50632	D	0.999885	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.83275	0.927;0.927;0.927;0.996	T	0.64373	-0.6423	10	0.62326	D	0.03	.	17.3022	0.87185	0.0:0.1254:0.8746:0.0	.	563;563;585;563	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	563;585;124;434	ENSP00000354486:E563K;ENSP00000349305:E585K;ENSP00000405842:E434K	ENSP00000349305:E585K	E	+	1	0	GOLGA4	37338367	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	7.256000	0.78350	1.546000	0.49388	0.655000	0.94253	GAG		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		5	32	0	0	0	1	0	5	32					A	37363363	G	A	37363363	3	1	278	1	0	0	0	0	1	0	0	0	6555	943	33	2	1807	2	GOLGA4	3	37363363	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		37363363	160659067	4	29911											
POU1F1	5449	broad.mit.edu	37	chr3	87325590	87325590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtataaaggtatcagccGaagtaaaagcttggcaactc	11	7	1	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:87325590G>A	ENST00000350375.2	-	1	147	c.23C>T	c.(22-24)tCg>tTg	p.S8L	POU1F1_ENST00000344265.3_Missense_Mutation_p.S8L|POU1F1_ENST00000560656.1_Missense_Mutation_p.S8L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	8					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)		GGTATCAGCCGAAGTAAAAGC	0.458																																						ENST00000350375.2																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(22-24)tCg>tTg		POU class 1 homeobox 1							90	92	91					3																	87325590		2203	4300	6503	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325590G>A	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.23C>T	3.37:g.87325590G>A	ENSP00000263781:p.Ser8Leu					POU1F1_ENST00000560656.1_Missense_Mutation_p.S8L|POU1F1_ENST00000344265.3_Missense_Mutation_p.S8L	p.S8L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	1	147	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	8					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.23C>T	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902062	0.92035	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	T;T	0.67171	-0.25;-0.25	5.16	5.16	0.70880	.	869.327000	0.00166	N	0.000001	T	0.74007	0.3660	L	0.54323	1.7	0.42006	D	0.990912	D;P	0.54772	0.968;0.614	P;B	0.44860	0.462;0.041	T	0.67325	-0.5699	10	0.87932	D	0	.	19.0088	0.92863	0.0:0.0:1.0:0.0	.	8;8	P28069-2;P28069	.;PIT1_HUMAN	L	8	ENSP00000263781:S8L;ENSP00000342931:S8L	ENSP00000342931:S8L	S	-	2	0	POU1F1	87408280	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	5.254000	0.65457	2.559000	0.86315	0.591000	0.81541	TCG		0.458	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		10	23	0	0	0	1	0	10	23					A	87325590	G	A	87325590	3	1	278	1	0	0	0	0	1	0	0	0	12269	1059	37	1	954	1	POU1F1	3	87325590	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	49962227	87325590	110696840	5	29912											
RINT1	60561	broad.mit.edu	37	chr7	105177177	105177177	+	Missense_Mutation	SNP	A	A	C													agaacagaggacagtaagtaAaatgcagttagaagaacagg							TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177177A>C	ENST00000257700.2	+	3	485	c.254A>C	c.(253-255)aAa>aCa	p.K85T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGTAAGTAAAATGCAGTTA	0.284																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(253-255)aAa>aCa		RAD50 interactor 1							61	61	61					7																	105177177		2203	4299	6502	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177177A>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.254A>C	7.37:g.105177177A>C	ENSP00000257700:p.Lys85Thr						p.K85T	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			3	485	+			85					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.254A>C	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740465	0.69304	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.25579	1.79	5.2	5.2	0.72013	.	0.045171	0.85682	D	0.000000	T	0.32615	0.0835	L	0.55481	1.735	0.51767	D	0.999938	P	0.50443	0.935	P	0.49528	0.614	T	0.04621	-1.0938	10	0.18710	T	0.47	-10.6671	14.7113	0.69235	1.0:0.0:0.0:0.0	.	85	Q6NUQ1	RINT1_HUMAN	T	85;54	ENSP00000257700:K85T	ENSP00000257700:K85T	K	+	2	0	RINT1	104964413	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.052000	0.71080	1.953000	0.56701	0.402000	0.26972	AAA		0.284	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		4	24	0	0	0	1	0	4	24					C	105177177	A	C	105177177	3	2	278	1	0	0	0	0	1	0	0	0	13376	14	1	5	264	5	RINT1	7	105177177	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08		105177177	53961486	6	29913	138	3									
RINT1	60561	broad.mit.edu	37	chr7	105177178	105177178	+	Missense_Mutation	SNP	A	A	T													gaacagaggacagtaagtaaAatgcagttagaagaacaggt							TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177178A>T	ENST00000257700.2	+	3	486	c.255A>T	c.(253-255)aaA>aaT	p.K85N		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTAAGTAAAATGCAGTTAG	0.279																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(253-255)aaA>aaT		RAD50 interactor 1							61	60	61					7																	105177178		2203	4299	6502	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177178A>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.255A>T	7.37:g.105177178A>T	ENSP00000257700:p.Lys85Asn						p.K85N	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			3	486	+			85					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.255A>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020589	0.54576	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.25250	1.81	5.2	5.2	0.72013	.	0.045171	0.85682	D	0.000000	T	0.19604	0.0471	L	0.44542	1.39	0.48901	D	0.999725	B	0.26902	0.163	B	0.20384	0.029	T	0.06215	-1.0839	10	0.22706	T	0.39	-10.6671	9.3027	0.37856	0.9183:0.0:0.0817:0.0	.	85	Q6NUQ1	RINT1_HUMAN	N	85;54	ENSP00000257700:K85N	ENSP00000257700:K85N	K	+	3	2	RINT1	104964414	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.082000	0.41605	1.953000	0.56701	0.402000	0.26972	AAA		0.279	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		4	22	0	0	0	1	0	4	22					T	105177178	A	T	105177178	3	4	278	1	0	0	0	0	1	0	0	0	13376	11	1	5	265	5	RINT1	7	105177178	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08	1	105177178	53961485	7	29914	138	3									
RINT1	60561	broad.mit.edu	37	chr7	105177182	105177182	+	Missense_Mutation	SNP	C	C	G													agaggacagtaagtaaaatgCagttagaagaacaggtaagt							TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177182C>G	ENST00000257700.2	+	3	490	c.259C>G	c.(259-261)Cag>Gag	p.Q87E		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	87					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGTAAAATGCAGTTAGAAGA	0.264																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(259-261)Cag>Gag		RAD50 interactor 1							59	58	59					7																	105177182		2203	4299	6502	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177182C>G	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.259C>G	7.37:g.105177182C>G	ENSP00000257700:p.Gln87Glu						p.Q87E	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			3	490	+			87					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.259C>G	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	9.725	1.160598	0.21454	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.22945	1.93	5.2	3.28	0.37604	.	0.545369	0.20693	N	0.087437	T	0.17492	0.0420	L	0.38175	1.15	0.31517	N	0.662884	B	0.13145	0.007	B	0.13407	0.009	T	0.29761	-1.0001	10	0.02654	T	1	-1.3121	13.1088	0.59261	0.4201:0.5799:0.0:0.0	.	87	Q6NUQ1	RINT1_HUMAN	E	87;56	ENSP00000257700:Q87E	ENSP00000257700:Q87E	Q	+	1	0	RINT1	104964418	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	1.864000	0.39469	0.494000	0.27859	0.491000	0.48974	CAG		0.264	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		4	21	0	0	0	1	0	4	21					G	105177182	C	G	105177182	3	3	278	1	0	0	0	0	1	0	0	0	13376	711	25	4	269	4	RINT1	7	105177182	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08	4	105177182	53961481	8	29915	138	3									
IMPDH1	3614	broad.mit.edu	37	chr7	128040207	128040207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtcacacctgctggagcCaccaccagttcaatccttgg	8	15	2	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:128040207C>T	ENST00000480861.1	-	6	623	c.546G>A	c.(544-546)gtG>gtA	p.V182V	IMPDH1_ENST00000343214.4_Silent_p.V162V|IMPDH1_ENST00000338791.6_Silent_p.V272V|IMPDH1_ENST00000348127.6_Silent_p.V236V|IMPDH1_ENST00000470772.1_Silent_p.V186V|IMPDH1_ENST00000354269.5_Silent_p.V262V|IMPDH1_ENST00000496200.1_Silent_p.V162V|IMPDH1_ENST00000378717.4_Silent_p.V203V|IMPDH1_ENST00000419067.2_Silent_p.V239V	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CTGCTGGAGCCACCACCAGTT	0.567																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(814-816)gtG>gtA		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						166	156	160					7																	128040207		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128040207C>T		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.546G>A	7.37:g.128040207C>T						IMPDH1_ENST00000470772.1_Silent_p.V186V|IMPDH1_ENST00000496200.1_Silent_p.V162V|IMPDH1_ENST00000480861.1_Silent_p.V182V|IMPDH1_ENST00000419067.2_Silent_p.V239V|IMPDH1_ENST00000378717.4_Silent_p.V203V|IMPDH1_ENST00000354269.5_Silent_p.V262V|IMPDH1_ENST00000343214.4_Silent_p.V162V|IMPDH1_ENST00000348127.6_Silent_p.V236V	p.V272V	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN			9	1166	-			187						Silent	SNP	ENST00000480861.1	37	c.816G>A	CCDS55161.1																																																																																				0.567	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		21	129	0	0	0	1	0	21	129					T	128040207	C	T	128040207	2	4	278	1	0	0	0	0	0	0	0	1	7726	581	21	2		2	IMPDH1	7	128040207	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	22863025	128040207	31098456	9	29916											
SLC1A2	6506	broad.mit.edu	37	chr11	35336644	35336644	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatatcccctgggaagGctattaacataaccacatca	7	10	1	1	rs377633002		TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:35336644G>C	ENST00000278379.3	-	3	518	c.236C>G	c.(235-237)gCc>gGc	p.A79G	SLC1A2_ENST00000395750.1_Missense_Mutation_p.A70G|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A79G|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A70G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	79					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			CCCTGGGAAGGCTATTAACAT	0.478																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(235-237)gCc>gGc		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)	G	GLY/ALA,GLY/ALA	0,4404		0,0,2202	119	112	114		236,209	5.7	1	11		114	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	SLC1A2	NM_004171.3,NM_001195728.1	60,60	0,1,6499	CC,CG,GG		0.0116,0.0,0.0077	benign,benign	79/575,70/566	35336644	1,12999	2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35336644G>C	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.236C>G	11.37:g.35336644G>C	ENSP00000278379:p.Ala79Gly					SLC1A2_ENST00000395753.1_Missense_Mutation_p.A70G|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A79G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A70G	p.A79G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		3	518	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	79					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.236C>G	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200428	0.58126	0.0	1.16E-4	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.66	5.66	0.87406	.	0.090866	0.85682	D	0.000000	T	0.39937	0.1097	N	0.05158	-0.105	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.006	T	0.19712	-1.0297	10	0.23302	T	0.38	-16.4722	19.7318	0.96183	0.0:0.0:1.0:0.0	.	79;79	B4DQE9;P43004	.;EAA2_HUMAN	G	79;70;70;75	ENSP00000278379:A79G;ENSP00000379099:A70G;ENSP00000379102:A70G;ENSP00000406133:A75G	ENSP00000278379:A79G	A	-	2	0	SLC1A2	35293220	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.822000	0.99363	2.674000	0.91012	0.561000	0.74099	GCC		0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		5	56	0	0	0	1	0	5	56					C	35336644	G	C	35336644	3	2	278	1	0	0	0	0	1	0	0	0	14432	1203	42	4	1524	4	SLC1A2	11	35336644	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		35336644	99669872	10	29917											
JAM3	83700	broad.mit.edu	37	chr11	134018707	134018707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaactacatccgcactgaCgaggaggtaatcatttagta	9	8	1	1	rs150992119		TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:134018707C>T	ENST00000299106.4	+	8	1050	c.891C>T	c.(889-891)gaC>gaT	p.D297D	JAM3_ENST00000441717.3_Silent_p.D246D|NCAPD3_ENST00000526787.2_5'Flank|JAM3_ENST00000529443.2_Silent_p.D342D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	297					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCGCACTGACGAGGAGGTAA	0.463																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(889-891)gaC>gaT		junctional adhesion molecule 3		C	,	2,4400	4.2+/-10.8	0,2,2199	69	65	67		738,891	-11.4	0	11	dbSNP_134	67	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	JAM3	NM_001205329.1,NM_032801.4	,	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	,	246/260,297/311	134018707	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134018707C>T	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.891C>T	11.37:g.134018707C>T						JAM3_ENST00000441717.3_Silent_p.D246D|JAM3_ENST00000529443.2_Silent_p.D342D	p.D297D			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	8	1050	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	297					B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	c.891C>T	CCDS8494.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.722	-0.783042	0.02907	4.54E-4	0.0	ENSG00000166086	ENST00000529443	.	.	.	6.04	-11.4	0.00090	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2596	0.37603	0.0:0.3689:0.1731:0.458	.	.	.	.	X	251	.	.	R	+	1	2	JAM3	133523917	0.072000	0.21174	0.028000	0.17463	0.082000	0.17680	-0.886000	0.04157	-2.598000	0.00452	-1.993000	0.00448	CGA		0.463	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		6	29	0	0	0	1	0	6	29					T	134018707	C	T	134018707	2	4	278	1	0	0	0	0	0	0	0	1	7944	535	19	1		1	JAM3	11	134018707	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	98682063	134018707	987809	11	29918											
AMHR2	269	broad.mit.edu	37	chr12	53825209	53825209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcagcgttcagcaaggCccttgttccaggaatcctca	8	14	3	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:53825209C>T	ENST00000257863.4	+	11	1754	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Silent_p.G463G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	558					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TTCAGCAAGGCCCTTGTTCCA	0.517																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1672-1674)ggC>ggT		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						138	115	123					12																	53825209		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53825209C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1674C>T	12.37:g.53825209C>T						AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Silent_p.G463G	p.G558G	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			11	1754	+			558					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.1674C>T	CCDS8858.1																																																																																				0.517	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		11	95	0	0	0	1	0	11	95					T	53825209	C	T	53825209	2	4	278	1	0	0	0	0	0	0	0	1	573	726	26	2		2	AMHR2	12	53825209	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08		53825209	80026686	12	29919											
ANKRD52	283373	broad.mit.edu	37	chr12	56645997	56645997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcgtagtggaggggAgagcagcctttacagtcggc	18	9	0	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:56645997A>G	ENST00000267116.7	-	14	1594	c.1473T>C	c.(1471-1473)tcT>tcC	p.S491S		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	491										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTGGAGGGGAGAGCAGCCTT	0.577																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1471-1473)tcT>tcC		ankyrin repeat domain 52							96	103	101					12																	56645997		2077	4200	6277	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56645997A>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1473T>C	12.37:g.56645997A>G							p.S491S	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			14	1594	-			491					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1473T>C	CCDS44920.1																																																																																				0.577	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		12	87	0	0	0	1	0	12	87					G	56645997	A	G	56645997	2	3	278	1	0	0	0	0	0	0	0	1	678	291	11	3		3	ANKRD52	12	56645997	Silent	SNP	A	TCGA-HT-7856-01A-11D-2395-08	2820788	56645997	77205898	13	29920											
PGF	5228	broad.mit.edu	37	chr14	75416122	75416122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcatcgccgcagcagcCggtgcagcgcagcagggaga	14	13	1	1	rs368317769		TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr14:75416122C>T	ENST00000405431.2	-	3	252	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	PGF_ENST00000555567.1_Missense_Mutation_p.G85S|PGF_ENST00000238607.6_Missense_Mutation_p.G84S|PGF_ENST00000553716.1_Missense_Mutation_p.G85S			P49763	PLGF_HUMAN	placental growth factor	85					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	CCGCAGCAGCCGGTGCAGCGC	0.652																																					GBM(127;389 2301 5452 48547)	ENST00000555567.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(253-255)Ggc>Agc		placental growth factor		C	SER/GLY,SER/GLY	0,4406		0,0,2203	70	59	63		253,253	4.3	0.9	14		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PGF	NM_001207012.1,NM_002632.5	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	85/150,85/171	75416122	1,13005	2203	4300	6503	SO:0001583	missense	5228				angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	g.chr14:75416122C>T	S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"placenta growth factor"	601121	"placental growth factor-like", "placental growth factor, vascular endothelial growth factor-related protein"	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.253G>A	14.37:g.75416122C>T	ENSP00000385365:p.Gly85Ser					PGF_ENST00000405431.2_Missense_Mutation_p.G85S|PGF_ENST00000553716.1_Missense_Mutation_p.G85S|PGF_ENST00000238607.6_Missense_Mutation_p.G84S	p.G85S	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00668)	3	794	-			85					Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	ENST00000405431.2	37	c.253G>A	CCDS9835.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522986	0.96431	0.0	1.16E-4	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.33	4.33	0.51752	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.91090	3.175	0.53005	D	0.999966	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	0.89297	0.3623	9	0.87932	D	0	.	16.6541	0.85224	0.0:1.0:0.0:0.0	.	85;85;84;85	P49763;P49763-2;G3XA84;Q53XY6	PLGF_HUMAN;.;.;.	S	85;85;84;85	.	ENSP00000238607:G85S	G	-	1	0	PGF	74485875	1.000000	0.71417	0.931000	0.37212	0.995000	0.86356	7.651000	0.83577	2.241000	0.73720	0.561000	0.74099	GGC		0.652	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		9	63	0	0	0	1	0	9	63					T	75416122	C	T	75416122	3	4	278	1	0	0	0	0	1	0	0	0	11788	652	23	1	279	1	PGF	14	75416122	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08		75416122	31933418	14	29921											
SIN3A	25942	broad.mit.edu	37	chr15	75688839	75688839	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctaaaactacatcaagcTgaagaggaagacaaagaagg	9	7	2	4			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:75688839T>C	ENST00000394947.3	-	13	2169		c.e13-2		SIN3A_ENST00000394949.4_Splice_Site|SIN3A_ENST00000360439.4_Splice_Site	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						TACATCAAGCTGAAGAGGAAG	0.413																																						ENST00000394947.3																			0				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						c.e13-2		SIN3 transcription regulator family member A							57	57	57					15																	75688839		2197	4294	6491	SO:0001630	splice_region_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75688839T>C	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.1855-2A>G	15.37:g.75688839T>C						SIN3A_ENST00000394949.4_Splice_Site|SIN3A_ENST00000360439.4_Splice_Site		NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			13	2169	-									Splice_Site	SNP	ENST00000394947.3	37		CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663488	0.88251	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8218	0.78654	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIN3A	73475892	1.000000	0.71417	0.979000	0.43373	0.958000	0.62258	7.999000	0.88496	2.326000	0.78906	0.533000	0.62120	.		0.413	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	Intron	5	42	0	0	0	1	0	5	42					C	75688839	T	C	75688839	5	2	278	1	0	0	0	0	0	0	1	0	14325	1594	55	3	2004	3	SIN3A	15	75688839	Splice_Site	SNP	T	TCGA-HT-7856-01A-11D-2395-08		75688839	26842553	15	29922											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	17	10	0	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:90631839T>A	ENST00000330062.3	-	4	627	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		14	Substitution - Missense(14)	p.R172W(12)|p.R172G(2)	central_nervous_system(9)|biliary_tract(5)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)Agg>Tgg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							86	81	83					15																	90631839		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631839T>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.514A>T	15.37:g.90631839T>A	ENSP00000331897:p.Arg172Trp					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W	p.R172W	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	627	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.514A>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495142	0.44352	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	0.717	0.18196	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	H	0.98487	4.245	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.95508	0.8583	10	0.87932	D	0	.	13.7144	0.62687	0.0:0.0:0.4915:0.5085	.	172	P48735	IDHP_HUMAN	W	172;42;120	ENSP00000331897:R172W;ENSP00000438457:R42W;ENSP00000446147:R120W	ENSP00000331897:R172W	R	-	1	2	IDH2	88432843	1.000000	0.71417	0.032000	0.17829	0.002000	0.02628	1.525000	0.35953	-0.113000	0.11958	-0.466000	0.05196	AGG		0.627	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			9	57	0	0	0	1	0	9	57					A	90631839	T	A	90631839	3	1	278	1	0	0	0	0	1	0	0	0	7495	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-7856-01A-11D-2395-08	14943000	90631839	11899553	16	29923											
MAST3	23031	broad.mit.edu	37	chr19	18248097	18248097	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttcctggccctggactGggcagggcttctccgacaca	11	14	1	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:18248097G>A	ENST00000262811.6	+	18	1934	c.1934G>A	c.(1933-1935)tGg>tAg	p.W645*		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	645	AGC-kinase C-terminal.						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						GCCCTGGACTGGGCAGGGCTT	0.622																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1933-1935)tGg>tAg		microtubule associated serine/threonine kinase 3							62	69	67					19																	18248097		2037	4178	6215	SO:0001587	stop_gained	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18248097G>A	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.1934G>A	19.37:g.18248097G>A	ENSP00000262811:p.Trp645*						p.W645*	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			18	1934	+			645			AGC-kinase C-terminal.		Q7LDZ8|Q9UPI0	Nonsense_Mutation	SNP	ENST00000262811.6	37	c.1934G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	39	7.428624	0.98279	.	.	ENSG00000099308	ENST00000262811	.	.	.	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6613	15.4848	0.75557	0.0:0.0:1.0:0.0	.	.	.	.	X	645	.	ENSP00000262811:W645X	W	+	2	0	MAST3	18109097	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.798000	0.99111	1.897000	0.54924	0.491000	0.48974	TGG		0.622	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		6	61	0	0	0	1	0	6	61					A	18248097	G	A	18248097	4	1	278	1	0	0	0	0	0	1	0	0	9326	1357	47	2	2004	2	MAST3	19	18248097	Nonsense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		18248097	40880886	17	29924											
RYR1	6261	broad.mit.edu	37	chr19	39026681	39026681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacagaacaaggccgaggGgctgggcatggtgaatgagg	19	6	0	4			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:39026681G>A	ENST00000359596.3	+	82	11561	c.11561G>A	c.(11560-11562)gGg>gAg	p.G3854E	RYR1_ENST00000355481.4_Missense_Mutation_p.G3849E|RYR1_ENST00000360985.3_Missense_Mutation_p.G3854E|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3854					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)	AAGGCCGAGGGGCTGGGCATG	0.577																																						ENST00000355481.4																			0				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						c.(11545-11547)gGg>gAg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						132	116	121					19																	39026681		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39026681G>A	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.11561G>A	19.37:g.39026681G>A	ENSP00000352608:p.Gly3854Glu					RYR1_ENST00000359596.3_Missense_Mutation_p.G3854E|RYR1_ENST00000360985.3_Missense_Mutation_p.G3854E|AC067969.2_ENST00000595853.1_RNA	p.G3849E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		81	11677	+	all_cancers(60;7.91e-06)		3854					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11546G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415270	0.42817	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90261	-2.64;-2.64;-2.64	4.38	4.38	0.52667	.	0.075271	0.51477	U	0.000088	D	0.94843	0.8334	M	0.80746	2.51	0.49582	D	0.999804	D;D;D	0.69078	0.997;0.997;0.995	D;D;P	0.65987	0.94;0.94;0.873	D	0.95602	0.8664	10	0.87932	D	0	.	15.8873	0.79261	0.0:0.0:1.0:0.0	.	3854;3849;3854	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	E	3854;3849;3854	ENSP00000352608:G3854E;ENSP00000347667:G3849E;ENSP00000354254:G3854E	ENSP00000347667:G3849E	G	+	2	0	RYR1	43718521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.172000	0.94808	2.266000	0.75297	0.655000	0.94253	GGG		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	17	0	0	0	1	0	4	17					A	39026681	G	A	39026681	3	1	278	1	0	0	0	0	1	0	0	0	13768	1232	43	2	11887	2	RYR1	19	39026681	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	20778584	39026681	20102302	18	29925											
TAB1	10454	broad.mit.edu	37	chr22	39814843	39814843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctcttccgtctttcGcagctgggtgagtggggaga	16	8	2	3	rs143506704	byFrequency	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr22:39814843G>A	ENST00000216160.6	+	6	719	c.657G>A	c.(655-657)tcG>tcA	p.S219S	TAB1_ENST00000331454.3_Silent_p.S219S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	219	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCGTCTTTCGCAGCTGGGTG	0.587													G|||	7	0.00139776	0.0	0.0	5008	,	,		20029	0.0		0.007	False		,,,				2504	0.0					ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(655-657)tcG>tcA		TGF-beta activated kinase 1/MAP3K7 binding protein 1		G	,	0,4406		0,0,2203	115	88	97		657,657	-9.8	0.6	22	dbSNP_134	97	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous,coding-synonymous	TAB1	NM_006116.2,NM_153497.2	,	0,13,6490	AA,AG,GG		0.1512,0.0,0.1	,	219/505,219/463	39814843	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39814843G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"TAK1-binding protein 1", "mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	602615	"mitogen-activated protein kinase kinase kinase 7 interacting protein 1"	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.657G>A	22.37:g.39814843G>A						TAB1_ENST00000331454.3_Silent_p.S219S	p.S219S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			6	719	+			219			PP2C-like.		Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.657G>A	CCDS13993.1																																																																																				0.587	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		5	60	0	0	0	1	0	5	60					A	39814843	G	A	39814843	2	1	278	1	0	0	0	0	0	0	0	1	15492	1074	38	1		1	TAB1	22	39814843	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		39814843	11489723	19	29926											
FUCA1	2517	broad.mit.edu	37	chr1	24194728	24194728	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggaagagcagcagcaGcaacagcgcgggacccgccg	15	14	0	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:24194728G>C	ENST00000374479.3	-	1	56	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	17					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCAGCAGCAGCAACAGCGCG	0.746																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(49-51)Ctg>Gtg		fucosidase, alpha-L- 1, tissue							4	7	6					1																	24194728		1950	3898	5848	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24194728G>C	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.49C>G	1.37:g.24194728G>C	ENSP00000363603:p.Leu17Val						p.L17V	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	1	56	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	17					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.49C>G	CCDS244.2	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502229	0.64298	.	.	ENSG00000179163	ENST00000374479	T	0.52057	0.68	4.91	3.03	0.35002	.	1.451400	0.04248	N	0.338180	T	0.41696	0.1170	L	0.32530	0.975	0.19300	N	0.999974	P	0.40000	0.698	B	0.40825	0.341	T	0.30736	-0.9968	10	0.36615	T	0.2	-15.7037	7.7808	0.29064	0.0827:0.0:0.7563:0.161	.	17	P04066	FUCO_HUMAN	V	17	ENSP00000363603:L17V	ENSP00000363603:L17V	L	-	1	2	FUCA1	24067315	0.086000	0.21541	0.017000	0.16124	0.148000	0.21650	1.525000	0.35953	0.666000	0.31087	0.561000	0.74099	CTG		0.746	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		2	2	0	0	0	1	0	2	2					C	24194728	G	C	24194728	3	2	279	1	0	0	0	0	1	0	0	0	6094	962	34	4	1383	4	FUCA1	1	24194728	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08		24194728	225055893	1	29927											
ABCA4	24	broad.mit.edu	37	chr1	94528252	94528252	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagataggcaaacccGccccagatgtaccggaaatc	9	14	0	2	rs377164833		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:94528252G>T	ENST00000370225.3	-	13	1904	c.1818C>A	c.(1816-1818)ggC>ggA	p.G606G	ABCA4_ENST00000535735.1_Silent_p.G606G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	606					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGCAAACCCGCCCCAGATGT	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1816-1818)ggC>ggA		ATP-binding cassette, sub-family A (ABC1), member 4							65	64	65					1																	94528252		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528252G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1818C>A	1.37:g.94528252G>T						ABCA4_ENST00000535735.1_Silent_p.G606G	p.G606G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	13	1904	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	606					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.1818C>A	CCDS747.1																																																																																				0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		10	30	1	0	0.000442599	1	0.000442599	10	30					T	94528252	G	T	94528252	2	4	279	1	0	0	0	0	0	0	0	1	34	1074	38	4		4	ABCA4	1	94528252	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08	70333524	94528252	154722369	2	29928											
PSME4	23198	broad.mit.edu	37	chr2	54148047	54148049	+	In_Frame_Del	DEL	AGG	AGG	-													ttgataggaaagtattcagaAggaggcttgtcaaagccacc							TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr2:54148047_54148049delAGG	ENST00000404125.1	-	18	2294_2296	c.2239_2241delCCT	c.(2239-2241)cctdel	p.P747del	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	747					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTATTCAGAAGGAGGCTTGTCA	0.374																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2239-2241)del		proteasome (prosome, macropain) activator subunit 4																																				SO:0001651	inframe_deletion	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54148047_54148049delAGG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2239_2241delCCT	2.37:g.54148050_54148052delAGG	ENSP00000384211:p.Pro747del					PSME4_ENST00000421748.2_Intron	p.P747del	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		18	2294_2296	-			747					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	In_Frame_Del	DEL	ENST00000404125.1	37	c.2239_2241delCCT	CCDS33197.2																																																																																				0.374	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		22	75						22	75	---	---	---	---	-	54148049	AGG	-	54148047	7	5	279	1	0	1	0	1	0	0	0	0	12709	59	3	0	3406	0	PSME4	2	54148047	In_Frame_Del	DEL	AGG	TCGA-HT-7857-01A-11D-2395-08		54148047	189051326	3	29929											
C4orf17	84103	broad.mit.edu	37	chr4	100443784	100443785	+	Frame_Shift_Ins	INS	-	-	G													ccaattgcagttacccctccINSagcactgcagtccaggagag					rs200176388|rs36110345|rs386677740|rs61732380	byFrequency	TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:100443784_100443785insG	ENST00000326581.4	+	3	617_618	c.255_256insG	c.(256-258)agcfs	p.S86fs	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000514652.1_Frame_Shift_Ins_p.S86fs	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	86										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GTTACCCCTCCAGCACTGCAGT	0.5																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(253-258)tcgcacfs		chromosome 4 open reading frame 17																																				SO:0001589	frameshift_variant	84103							g.chr4:100443784_100443785insG	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	Exception_encountered	4.37:g.100443784_100443785insG	ENSP00000322582:p.Ser86fs					C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.H86fs	p.H86fs			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	3	609_610	+			86					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Frame_Shift_Ins	INS	ENST00000326581.4	37	c.255_256insG	CCDS3649.1																																																																																				0.5	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		7	93						7	93	---	---	---	---	G	100443785	-	G	100443784	7	5	279	1	0	1	1	0	0	0	0	0	2252	581	21	0	261	0	C4orf17	4	100443784	Frame_Shift_Ins	INS	-	TCGA-HT-7857-01A-11D-2395-08		100443784	90710492	4	29930											
TET2	54790	broad.mit.edu	37	chr4	106155166	106155166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattcctgataccatcacctCccatttgccagacagaacct	4	16	1	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:106155166C>T	ENST00000540549.1	+	3	927	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	TET2_ENST00000394764.1_Missense_Mutation_p.P23S|TET2_ENST00000513237.1_Missense_Mutation_p.P44S|TET2_ENST00000305737.2_Missense_Mutation_p.P23S|TET2_ENST00000413648.2_Missense_Mutation_p.P23S|TET2_ENST00000545826.1_Missense_Mutation_p.P23S|TET2_ENST00000380013.4_Missense_Mutation_p.P23S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	23					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)		ACCATCACCTCCCATTTGCCA	0.527			"Mis N, F"		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				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						c.(67-69)Ccc>Tcc		tet methylcytosine dioxygenase 2							76	65	68					4																	106155166		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155166C>T	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.67C>T	4.37:g.106155166C>T	ENSP00000442788:p.Pro23Ser					TET2_ENST00000394764.1_Missense_Mutation_p.P23S|TET2_ENST00000305737.2_Missense_Mutation_p.P23S|TET2_ENST00000413648.2_Missense_Mutation_p.P23S|TET2_ENST00000380013.4_Missense_Mutation_p.P23S|TET2_ENST00000513237.1_Missense_Mutation_p.P44S|TET2_ENST00000545826.1_Missense_Mutation_p.P23S	p.P23S			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	927	+		Myeloproliferative disorder(5;0.0393)	23					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.67C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473141	0.26423	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110;ENST00000514870	T;T;T;T;T;T;T;T	0.28454	3.91;4.57;3.91;4.57;4.57;3.91;3.92;1.61	5.4	3.65	0.41850	.	0.675928	0.12153	U	0.494685	T	0.20088	0.0483	N	0.19112	0.55	0.24770	N	0.992871	B;B;B	0.18610	0.01;0.01;0.029	B;B;B	0.18561	0.01;0.01;0.022	T	0.22382	-1.0218	10	0.31617	T	0.26	.	9.2917	0.37791	0.0:0.5779:0.3454:0.0767	.	44;23;23	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	S	23;23;23;44;23;23;23;23;23	ENSP00000306705:P23S;ENSP00000442788:P23S;ENSP00000442867:P23S;ENSP00000425443:P44S;ENSP00000369351:P23S;ENSP00000378245:P23S;ENSP00000391448:P23S;ENSP00000426885:P23S	ENSP00000265149:P23S	P	+	1	0	TET2	106374615	0.996000	0.38824	0.699000	0.30290	0.980000	0.70556	1.624000	0.37018	0.613000	0.30089	0.591000	0.81541	CCC		0.527	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		11	43	0	0	0	1	0	11	43					T	106155166	C	T	106155166	3	4	279	1	0	0	0	0	1	0	0	0	15767	855	30	2	69	2	TET2	4	106155166	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	5711382	106155166	84999110	5	29931											
NAA15	80155	broad.mit.edu	37	chr4	140262069	140262069	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaactaaattctttaggttGgcacgtttatggccttcttc	7	8	2	0			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:140262069G>A	ENST00000296543.5	+	4	571	c.248G>A	c.(247-249)tGg>tAg	p.W83*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.W83*|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	83					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						TCTTTAGGTTGGCACGTTTAT	0.363																																						ENST00000296543.5																			0				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						c.(247-249)tGg>tAg		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							68	62	64					4																	140262069		1828	4089	5917	SO:0001587	stop_gained	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140262069G>A	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.248G>A	4.37:g.140262069G>A	ENSP00000296543:p.Trp83*					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.W83*	p.W83*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			4	571	+			83					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	c.248G>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	38	6.666260	0.97747	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0146	19.6544	0.95831	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000296543:W83X	W	+	2	0	NAA15	140481519	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.378000	0.97191	2.647000	0.89833	0.467000	0.42956	TGG		0.363	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		26	51	0	0	0	1	0	26	51					A	140262069	G	A	140262069	4	1	279	1	0	0	0	0	0	1	0	0	10118	1357	47	2	262	2	NAA15	4	140262069	Nonsense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	34106903	140262069	50892207	6	29932											
DUSP22	56940	broad.mit.edu	37	chr6	348272	348272	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgagaagcatgaggtccatCaggtaagcagttcttagggg	14	6	2	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:348272C>T	ENST00000344450.5	+	6	876	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	DUSP22_ENST00000605315.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605035.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000419235.2_Nonsense_Mutation_p.Q145*|DUSP22_ENST00000603453.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000604971.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605863.1_Nonsense_Mutation_p.Q42*	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	145					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGAGGTCCATCAGGTAAGCAG	0.577																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(124-126)Cag>Tag		dual specificity phosphatase 22							93	84	87					6																	348272		2203	4300	6503	SO:0001587	stop_gained	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348272C>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.433C>T	6.37:g.348272C>T	ENSP00000345281:p.Gln145*					DUSP22_ENST00000344450.5_Nonsense_Mutation_p.Q145*|DUSP22_ENST00000605315.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000603453.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000419235.2_Nonsense_Mutation_p.Q145*|DUSP22_ENST00000605035.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605863.1_Nonsense_Mutation_p.Q42*	p.Q42*			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1237	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	145					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Nonsense_Mutation	SNP	ENST00000344450.5	37	c.124C>T	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.964370|4.964370	0.92791|0.92791	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000344450|ENST00000419235	.|.	.|.	.|.	5.82|5.82	4.94|4.94	0.65067|0.65067	.|.	0.146075|.	0.48767|.	D|.	0.000169|.	.|T	.|0.62258	.|0.2413	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64398	.|-0.6417	.|3	0.09843|.	T|.	0.71|.	.|.	15.9672|15.9672	0.79984|0.79984	0.0:0.7454:0.2546:0.0|0.0:0.7454:0.2546:0.0	.|.	.|.	.|.	.|.	X|L	145|82	.|.	ENSP00000345281:Q145X|.	Q|S	+|+	1|2	0|0	DUSP22|DUSP22	293272|293272	0.956000|0.956000	0.32656|0.32656	0.898000|0.898000	0.35279|0.35279	0.857000|0.857000	0.48899|0.48899	2.170000|2.170000	0.42443|0.42443	1.434000|1.434000	0.47414|0.47414	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.577	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		14	132	0	0	0	1	0	14	132					T	348272	C	T	348272	4	4	279	1	0	0	0	0	0	1	0	0	4821	827	29	2	455	2	DUSP22	6	348272	Nonsense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		348272	170766795	7	29933											
OR10C1	442194	broad.mit.edu	37	chr6	29407957	29407957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccactgatgctgccctccaGtcccctatgtacttcttcct	5	17	1	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:29407957G>T	ENST00000444197.2	+	1	875	c.165G>T	c.(163-165)caG>caT	p.Q55H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	55						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)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCCCTCCAGTCCCCTATGT	0.567																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(163-165)caG>caT		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							193	164	174					6																	29407957		1510	2708	4218	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407957G>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.165G>T	6.37:g.29407957G>T	ENSP00000419119:p.Gln55His					OR11A1_ENST00000377149.1_Intron	p.Q55H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	875	+			55					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.165G>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	1.598	-0.527357	0.04141	.	.	ENSG00000206474	ENST00000444197	T	0.00705	5.81	3.6	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	0.227458	0.22242	U	0.062675	T	0.00073	0.0002	N	0.00385	-1.57	0.18873	N	0.999989	B	0.02656	0.0	B	0.04013	0.001	T	0.09640	-1.0665	10	0.02654	T	1	.	6.5302	0.22322	0.3368:0.4973:0.1659:0.0	.	55	Q96KK4	O10C1_HUMAN	H	55	ENSP00000419119:Q55H	ENSP00000419119:Q55H	Q	+	3	2	OR10C1	29515936	0.000000	0.05858	0.000000	0.03702	0.402000	0.30811	-0.330000	0.07925	-0.388000	0.07797	-0.450000	0.05554	CAG		0.567	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			20	159	1	0	5.35267e-07	1	5.59056e-07	20	159					T	29407957	G	T	29407957	3	4	279	1	0	0	0	0	1	0	0	0	10898	1020	36	4	167	4	OR10C1	6	29407957	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	29059685	29407957	141707110	8	29934											
DNAH8	1769	broad.mit.edu	37	chr6	38810444	38810444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctttctgaaagatgtcGtaaacttccaaaaggactta	6	8	2	2	rs375507271		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:38810444G>A	ENST00000359357.3	+	33	4213	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1320					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						GAAAGATGTCGTAAACTTCCA	0.323																																						ENST00000359357.3																			0				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						c.(3958-3960)cGt>cAt		dynein, axonemal, heavy chain 8		G	HIS/ARG	0,4402		0,0,2201	53	59	57		4610	4.6	1	6		57	2,8598	1.2+/-3.3	0,2,4298	no	missense	DNAH8	NM_001206927.1	29	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1537/4708	38810444	2,13000	2201	4300	6501	SO:0001583	missense	1769							g.chr6:38810444G>A	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.3959G>A	6.37:g.38810444G>A	ENSP00000352312:p.Arg1320His					DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537H	p.R1320H							33	4213	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3959G>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.407189	0.83230	0.0	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.61859	0.07;0.07;0.07	5.46	4.59	0.56863	Dynein heavy chain, domain-2 (1);	0.055231	0.64402	D	0.000001	T	0.55337	0.1914	M	0.75777	2.31	0.80722	D	1	D	0.56968	0.978	P	0.48982	0.597	T	0.62124	-0.6920	10	0.49607	T	0.09	.	14.8197	0.70062	0.0698:0.0:0.9302:0.0	.	1320	Q96JB1	DYH8_HUMAN	H	1525;1525;1320;1320	ENSP00000333363:R1525H;ENSP00000352312:R1320H;ENSP00000402294:R1320H	ENSP00000333363:R1525H	R	+	2	0	DNAH8	38918422	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.747000	0.68689	1.433000	0.47394	0.650000	0.86243	CGT		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	67	0	0	0	1	0	24	67					A	38810444	G	A	38810444	3	1	279	1	0	0	0	0	1	0	0	0	4607	1145	40	1	4081	1	DNAH8	6	38810444	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	9402487	38810444	132304623	9	29935											
POU6F2	11281	broad.mit.edu	37	chr7	39500263	39500263	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccagactcaggtgggacAggctctcagtgctacagagg	14	11	2	2	rs200235640	byFrequency	TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:39500263A>C	ENST00000403058.1	+	10	1674	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452P|POU6F2_ENST00000518318.2_Missense_Mutation_p.Q507P	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	507	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q507L(1)|p.Q507R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602																																						ENST00000518318.2																			2	Substitution - Missense(2)	p.Q507L(1)|p.Q507R(1)	kidney(1)|endometrium(1)	NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1519-1521)cAg>cCg		POU class 6 homeobox 2							33	29	30					7																	39500263		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500263A>C	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1520A>C	7.37:g.39500263A>C	ENSP00000384004:p.Gln507Pro					POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452P|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q507P	p.Q507P			P78424	PO6F2_HUMAN			9	1562	+			507			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.1520A>C	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	A	15.71	2.914873	0.52546	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.83837	-1.77;-1.77	5.48	5.48	0.80851	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	M	0.66939	2.045	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	D	0.90952	0.4806	10	0.72032	D	0.01	.	15.5731	0.76354	1.0:0.0:0.0:0.0	.	507	P78424	PO6F2_HUMAN	P	507	ENSP00000384004:Q507P;ENSP00000430514:Q507P	ENSP00000384004:Q507P	Q	+	2	0	POU6F2	39466788	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.249000	0.95470	2.080000	0.62538	0.418000	0.28097	CAG		0.602	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		6	11	0	0	0	1	0	6	11					C	39500263	A	C	39500263	3	2	279	1	0	0	0	0	1	0	0	0	12285	188	7	5	1554	5	POU6F2	7	39500263	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08		39500263	119638400	10	29936											
EXOC4	60412	broad.mit.edu	37	chr7	133749244	133749244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagcaggctgccatcaAgcaagccaccaaggacaaga	11	13	1	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:133749244A>G	ENST00000253861.4	+	18	2917	c.2888A>G	c.(2887-2889)aAg>aGg	p.K963R	EXOC4_ENST00000545148.1_Missense_Mutation_p.K573R|EXOC4_ENST00000539845.1_Missense_Mutation_p.K862R|EXOC4_ENST00000541309.1_Missense_Mutation_p.K251R	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	963					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCTGCCATCAAGCAAGCCACC	0.572																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2887-2889)aAg>aGg		exocyst complex component 4							89	79	82					7																	133749244		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133749244A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2888A>G	7.37:g.133749244A>G	ENSP00000253861:p.Lys963Arg					EXOC4_ENST00000539845.1_Missense_Mutation_p.K862R|EXOC4_ENST00000545148.1_Missense_Mutation_p.K573R|EXOC4_ENST00000541309.1_Missense_Mutation_p.K251R	p.K963R	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			18	2917	+		Esophageal squamous(399;0.129)	963					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2888A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	31	5.076827	0.94000	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	N	0.14661	0.345	0.54753	D	0.999983	D;D;P	0.71674	0.974;0.998;0.956	D;D;D	0.78314	0.969;0.991;0.931	T	0.59408	-0.7460	9	0.27785	T	0.31	.	15.0802	0.72108	1.0:0.0:0.0:0.0	.	495;573;963	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	R	963;582;862;573;251	.	ENSP00000253861:K963R	K	+	2	0	EXOC4	133399784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.719000	0.91436	2.135000	0.66039	0.528000	0.53228	AAG		0.572	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		21	68	0	0	0	1	0	21	68					G	133749244	A	G	133749244	3	3	279	1	0	0	0	0	1	0	0	0	5306	72	3	3	2967	3	EXOC4	7	133749244	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08	94248981	133749244	25389419	11	29937											
UBR5	51366	broad.mit.edu	37	chr8	103266680	103266680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcttattgtgattgaGggcataggctggaatccttc	14	6	1	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr8:103266680G>A	ENST00000520539.1	-	59	8856	c.8250C>T	c.(8248-8250)ccC>ccT	p.P2750P	KB-431C1.4_ENST00000499653.1_RNA|UBR5_ENST00000518205.1_Silent_p.P478P|UBR5_ENST00000220959.4_Silent_p.P2749P|KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Silent_p.P2743P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2750	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.|Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGTGATTGAGGGCATAGGCT	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(8248-8250)ccC>ccT		ubiquitin protein ligase E3 component n-recognin 5							191	172	178					8																	103266680		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103266680G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8250C>T	8.37:g.103266680G>A						UBR5_ENST00000518205.1_Silent_p.P478P|UBR5_ENST00000220959.4_Silent_p.P2749P|UBR5_ENST00000521922.1_Silent_p.P2743P	p.P2750P	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		59	8856	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2750			HECT.|Pro-rich.		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.8250C>T	CCDS34933.1																																																																																				0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		10	68	0	0	0	1	0	10	68					A	103266680	G	A	103266680	2	1	279	1	0	0	0	0	0	0	0	1	16902	987	35	2		2	UBR5	8	103266680	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08		103266680	43097342	12	29938											
ST8SIA6	338596	broad.mit.edu	37	chr10	17495614	17495614	+	Frame_Shift_Del	DEL	G	G	-													cggagcgtcctcagcgctgcGggggtgccgtgggtggcctc							TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr10:17495614delG	ENST00000377602.4	-	2	218	c.144delC	c.(142-144)cccfs	p.P48fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	48					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAGCGCTGCGGGGGTGCCGT	0.697																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(142-144)ccfs		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							8	11	10					10																	17495614		2178	4280	6458	SO:0001589	frameshift_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17495614delG		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"Sialyltransferases"	23317	protein-coding gene	gene with protein product	"ST8Sia VI"	610139	"sialyltransferase 8F (alpha-2, 8-sialyltransferase)"	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.144delC	10.37:g.17495614delG	ENSP00000366827:p.Pro48fs						p.P48fs	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			2	218	-			48					B0YJ97|B9EH72|Q5VZH4	Frame_Shift_Del	DEL	ENST00000377602.4	37	c.144delC	CCDS31158.1																																																																																				0.697	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		2	4						2	4	---	---	---	---	-	17495614	G	-	17495614	7	5	279	1	0	1	0	1	0	0	0	0	15235	1103	39	0	1080	0	ST8SIA6	10	17495614	Frame_Shift_Del	DEL	G	TCGA-HT-7857-01A-11D-2395-08		17495614	118039133	13	29939											
ANKK1	255239	broad.mit.edu	37	chr11	113267965	113267965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacattaccatcgagacagaCatactgctgtcactgctgca	8	12	1	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr11:113267965C>T	ENST00000303941.3	+	6	952	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCGAGACAGACATACTGCTGT	0.582																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(856-858)gaC>gaT		ankyrin repeat and kinase domain containing 1							58	62	61					11																	113267965		2131	4233	6364	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113267965C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.858C>T	11.37:g.113267965C>T							p.D286D	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	6	952	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	286			Protein kinase.			Silent	SNP	ENST00000303941.3	37	c.858C>T	CCDS44734.1																																																																																				0.582	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		10	37	0	0	0	1	0	10	37					T	113267965	C	T	113267965	2	4	279	1	0	0	0	0	0	0	0	1	631	477	17	2		2	ANKK1	11	113267965	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		113267965	21738551	14	29940											
FMNL3	91010	broad.mit.edu	37	chr12	50043069	50043069	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctctggagcttgaagccAtacacagctccccgcttgct	10	14	1	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:50043069A>G	ENST00000293590.5	-	20	2591	c.2358T>C	c.(2356-2358)taT>taC	p.Y786Y	FMNL3_ENST00000335154.5_Silent_p.Y786Y|FMNL3_ENST00000550488.1_Silent_p.Y786Y|FMNL3_ENST00000352151.5_Silent_p.Y735Y			Q8IVF7	FMNL3_HUMAN	formin-like 3	786	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTTGAAGCCATACACAGCTC	0.572																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2356-2358)taT>taC		formin-like 3							80	86	84					12																	50043069		2124	4257	6381	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50043069A>G	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2358T>C	12.37:g.50043069A>G						FMNL3_ENST00000550488.1_Silent_p.Y786Y|FMNL3_ENST00000352151.5_Silent_p.Y735Y|FMNL3_ENST00000293590.5_Silent_p.Y786Y	p.Y786Y	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			20	2591	-			786			FH2.		B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.2358T>C																																																																																					0.572	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		14	94	0	0	0	1	0	14	94					G	50043069	A	G	50043069	2	3	279	1	0	0	0	0	0	0	0	1	5953	224	8	3		3	FMNL3	12	50043069	Silent	SNP	A	TCGA-HT-7857-01A-11D-2395-08		50043069	83808826	15	29941											
PTPN11	5781	broad.mit.edu	37	chr12	112888197	112888197	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatggaggggagaaattTgccactttggctgagttggt	15	5	0	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:112888197T>A	ENST00000351677.2	+	3	411	c.213T>A	c.(211-213)ttT>ttA	p.F71L	PTPN11_ENST00000392597.1_Missense_Mutation_p.F71L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	71	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12717436}.|F -> L (in myelodysplastic syndrome). {ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.F71L(5)|p.F71K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGGAGAAATTTGCCACTTTGG	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		6	Substitution - Missense(6)	p.F71L(5)|p.F71K(1)	haematopoietic_and_lymphoid_tissue(6)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(211-213)ttT>ttA		protein tyrosine phosphatase, non-receptor type 11							154	142	146					12																	112888197		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888197T>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.213T>A	12.37:g.112888197T>A	ENSP00000340944:p.Phe71Leu					PTPN11_ENST00000392597.1_Missense_Mutation_p.F71L	p.F71L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			3	411	+			71		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions).|F -> L (in myelodysplastic syndrome).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.213T>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577946	0.86645	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.98313	-4.86;-4.86	5.9	3.57	0.40892	.	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	H	0.96175	3.78	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.77557	0.864;0.99	D	0.98808	1.0742	10	0.87932	D	0	.	10.0515	0.42219	0.0:0.1351:0.0:0.8649	.	71;71	Q06124-2;Q06124-3	.;.	L	71	ENSP00000376376:F71L;ENSP00000340944:F71L	ENSP00000340944:F71L	F	+	3	2	PTPN11	111372580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.314000	0.43743	0.503000	0.28060	0.528000	0.53228	TTT		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			50	97	0	0	0	1	0	50	97					A	112888197	T	A	112888197	3	1	279	1	0	0	0	0	1	0	0	0	12780	1809	63	5	223	5	PTPN11	12	112888197	Missense_Mutation	SNP	T	TCGA-HT-7857-01A-11D-2395-08	62845128	112888197	20963698	16	29942											
C15orf2	23742	broad.mit.edu	37	chr15	24921605	24921605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagggcacccagggagaCgtggcctccttcagatgcag	13	14	1	2	rs371279086		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr15:24921605C>T	ENST00000329468.2	+	1	1065	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	197					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCCAGGGAGACGTGGCCTCCT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18068	0.0		0.0	False		,,,				2504	0.001					ENST00000329468.2																			0											c.(589-591)gaC>gaT		nuclear pore associated protein 1		C		0,4406		0,0,2203	44	38	40		591	-0.1	0	15		40	1,8599		0,1,4299	no	coding-synonymous	C15orf2	NM_018958.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		197/1157	24921605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24921605C>T	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.591C>T	15.37:g.24921605C>T							p.D197D	NM_018958.2	NP_061831.2					1	1065	+									Silent	SNP	ENST00000329468.2	37	c.591C>T	CCDS10015.1																																																																																				0.592	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	44	0	0	0	1	0	6	44					T	24921605	C	T	24921605	2	4	279	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921605	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		24921605	77609787	17	29943											
KLHL25	64410	broad.mit.edu	37	chr15	86311637	86311637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgatcgtccacctgttctCcgaggggtcatagcactgga	11	12	2	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr15:86311637C>T	ENST00000337975.5	-	2	1679	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E469K|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	469					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCTGTTCTCCGAGGGGTCA	0.602																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1405-1407)Gag>Aag		kelch-like family member 25							94	83	87					15																	86311637		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86311637C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1405G>A	15.37:g.86311637C>T	ENSP00000336800:p.Glu469Lys					KLHL25_ENST00000536947.1_Missense_Mutation_p.E469K|KLHL25_ENST00000559131.1_Intron	p.E469K	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	1679	-			469					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1405G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922708	0.33908	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.77877	-1.13;-1.13	5.56	4.59	0.56863	Kelch-type beta propeller (1);	0.346209	0.29233	N	0.012755	T	0.67636	0.2914	L	0.27944	0.81	0.48185	D	0.999601	B	0.14805	0.011	B	0.25759	0.063	T	0.62163	-0.6912	10	0.29301	T	0.29	.	14.9943	0.71418	0.0:0.8572:0.1428:0.0	.	469	Q9H0H3	ENC2_HUMAN	K	469;438;469	ENSP00000336800:E469K;ENSP00000444739:E469K	ENSP00000336800:E469K	E	-	1	0	KLHL25	84112641	0.991000	0.36638	0.951000	0.38953	0.457000	0.32468	3.204000	0.51082	2.619000	0.88677	0.462000	0.41574	GAG		0.602	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		18	137	0	0	0	1	0	18	137					T	86311637	C	T	86311637	3	4	279	1	0	0	0	0	1	0	0	0	8380	864	30	2	368	2	KLHL25	15	86311637	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	61390032	86311637	16219755	18	29944											
PLA2G15	23659	broad.mit.edu	37	chr16	68293167	68293171	+	Frame_Shift_Del	DEL	CGTGC	CGTGC	-													tggtcacctgagaaggtgttCgtgcagacacccacaatcaa					rs200562766|rs142263893		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr16:68293167_68293171delCGTGC	ENST00000219345.5	+	6	929_933	c.846_850delCGTGC	c.(844-852)ttcgtgcagfs	p.FVQ282fs	PLA2G15_ENST00000444212.2_Frame_Shift_Del_p.FVQ82fs|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.FVQ188fs|PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	282					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGAAGGTGTTCGTGCAGACACCCAC	0.58																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(844-852)ttagfs		phospholipase A2, group XV																																				SO:0001589	frameshift_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293167_68293171delCGTGC	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.846_850delCGTGC	16.37:g.68293167_68293171delCGTGC	ENSP00000219345:p.Phe282fs					PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Frame_Shift_Del_p.FVQ82fs|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.FVQ188fs	p.FVQ282fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	929_933	+			282					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Del	DEL	ENST00000219345.5	37	c.846_850delCGTGC	CCDS10864.1																																																																																				0.58	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		16	67						16	67	---	---	---	---	-	68293171	CGTGC	-	68293167	7	5	279	1	0	1	0	1	0	0	0	0	11992	883	31	0	868	0	PLA2G15	16	68293167	Frame_Shift_Del	DEL	CGTGC	TCGA-HT-7857-01A-11D-2395-08		68293167	22061586	19	29945											
C16orf7	9605	broad.mit.edu	37	chr16	89785502	89785502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcctcaggtattccgtGtatgcctcctgtgtccagga	10	12	1	0	rs375598205		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr16:89785502G>A	ENST00000389386.3	-	2	232	c.108C>T	c.(106-108)taC>taT	p.Y36Y	ZNF276_ENST00000443381.2_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_5'UTR|ZNF276_ENST00000568064.1_5'Flank|ZNF276_ENST00000289816.5_5'Flank|ZNF276_ENST00000446326.2_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	36					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GGTATTCCGTGTATGCCTCCT	0.552																																						ENST00000389386.3																			0											c.(106-108)taC>taT		VPS9 domain containing 1		G		1,3883		0,1,1941	114	118	116		108	-3.5	0	16		116	0,8264		0,0,4132	no	coding-synonymous	C16orf7	NM_004913.2		0,1,6073	AA,AG,GG		0.0,0.0257,0.0082		36/632	89785502	1,12147	1942	4132	6074	SO:0001819	synonymous_variant	9605							g.chr16:89785502G>A	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.108C>T	16.37:g.89785502G>A						VPS9D1_ENST00000561976.1_5'UTR	p.Y36Y	NM_004913.2	NP_004904.2					2	232	-									Silent	SNP	ENST00000389386.3	37	c.108C>T	CCDS42220.1																																																																																				0.552	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913		17	107	0	0	0	1	0	17	107					A	89785502	G	A	89785502	2	1	279	1	0	0	0	0	0	0	0	1	1828	1372	48	2		2	C16orf7	16	89785502	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08	21492335	89785502	569251	20	29946											
NF1	4763	broad.mit.edu	37	chr17	29576001	29576001	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttttatttttttgtaGgttagaaccatcagagagcc	7	5	1	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr17:29576001G>A	ENST00000358273.4	+	30	4357		c.e30-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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.?(4)	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)		TTTTTTTGTAGGTTAGAACCA	0.368			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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						c.e30-1		neurofibromin 1							73	71	72					17																	29576001		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576001G>A		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.3975-1G>A	17.37:g.29576001G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	30	4357	+		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)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994304	0.54041	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26600127	1.000000	0.71417	0.429000	0.26710	0.370000	0.29829	9.378000	0.97191	2.873000	0.98535	0.563000	0.77884	.		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	48	36	0	0	0	1	0	48	36					A	29576001	G	A	29576001	5	1	279	1	0	0	0	0	0	0	1	0	10356	1014	35	2	4153	2	NF1	17	29576001	Splice_Site	SNP	G	TCGA-HT-7857-01A-11D-2395-08		29576001	51619209	21	29947											
C19orf63	284361	broad.mit.edu	37	chr19	50981247	50981247	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggctgctgctggagcactCatttgagatcggtgagtcag	16	8	2	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr19:50981247C>G	ENST00000334976.6	+	2	222	c.176C>G	c.(175-177)tCa>tGa	p.S59*	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Nonsense_Mutation_p.S59*|FAM71E1_ENST00000595790.1_5'Flank|EMC10_ENST00000376918.3_Nonsense_Mutation_p.S59*|FAM71E1_ENST00000600100.1_5'Flank	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	59						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CTGGAGCACTCATTTGAGATC	0.607																																						ENST00000376918.3																			0											c.(175-177)tCa>tGa		ER membrane protein complex subunit 10							115	106	109					19																	50981247		2203	4300	6503	SO:0001587	stop_gained	284361							g.chr19:50981247C>G	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.176C>G	19.37:g.50981247C>G	ENSP00000334037:p.Ser59*					EMC10_ENST00000334976.6_Nonsense_Mutation_p.S59*|EMC10_ENST00000598585.1_Nonsense_Mutation_p.S59*	p.S59*	NM_175063.4	NP_778233.4					2	222	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Nonsense_Mutation	SNP	ENST00000334976.6	37	c.176C>G	CCDS12796.1	.	.	.	.	.	.	.	.	.	.	C	37	6.178158	0.97352	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.4	4.4	0.53042	.	0.151315	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.0784	14.7052	0.69186	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000334037:S59X	S	+	2	0	C19orf63	55673059	0.997000	0.39634	0.975000	0.42487	0.988000	0.76386	4.573000	0.60893	2.359000	0.80004	0.491000	0.48974	TCA		0.607	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		3	34	0	0	0	1	0	3	34					G	50981247	C	G	50981247	4	3	279	1	0	0	0	0	0	1	0	0	1945	838	29	4	182	4	C19orf63	19	50981247	Nonsense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		50981247	8147736	22	29948											
RIBC1	158787	broad.mit.edu	37	chrX	53455598	53455598	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagcccggccctccagaCtcagagacctgaggcctagt	11	15	1	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:53455598C>T	ENST00000375327.3	+	5	697				RIBC1_ENST00000457095.1_Silent_p.D189D|RIBC1_ENST00000490702.1_Intron|RIBC1_ENST00000414955.2_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1											lung(2)	2						GCCCTCCAGACTCAGAGACCT	0.552																																						ENST00000457095.1																			0				lung(2)	2						c.(565-567)gaC>gaT		RIB43A domain with coiled-coils 1							36	35	35					X																	53455598		2203	4299	6502	SO:0001627	intron_variant	158787							g.chrX:53455598C>T	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.544+23C>T	X.37:g.53455598C>T						RIBC1_ENST00000375327.3_Intron|RIBC1_ENST00000490702.1_Intron|RIBC1_ENST00000414955.2_Intron	p.D189D	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN			5	771	+			0					B4E297|E9PDU2|Q5H931|Q96A80	Silent	SNP	ENST00000375327.3	37	c.567C>T	CCDS35299.1																																																																																				0.552	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		5	19	0	0	0	1	0	5	19					T	53455598	C	T	53455598	1	4	279	0	1	0	0	0	0	0	0	0	13352	564	20	2		2	RIBC1	23	53455598	Intron	SNP	C	TCGA-HT-7857-01A-11D-2395-08		53455598	101814962	23	29949											
APEX2	27301	broad.mit.edu	37	chrX	55033116	55033116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtcactggcgcccgcCatctcaactatggctcccgg	10	17	2	0	rs145122391		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:55033116C>T	ENST00000374987.3	+	6	871	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	APEX2_ENST00000471758.1_3'UTR|ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	269			H -> Y (identified in a patient with mtDNA maintenance disorders). {ECO:0000269|PubMed:20843780}.		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						TGGCGCCCGCCATCTCAACTA	0.597								Other BER factors					C|||	5	0.0013245	0.0	0.0	3775	,	,		13750	0.0		0.001	False		,,,				2504	0.0041					ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(805-807)Cat>Tat	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2		C	TYR/HIS	0,3835		0,0,0,1632,571	32	31	31		805	1.6	1	X	dbSNP_134	31	2,6725		0,1,1,2427,1870	no	missense	APEX2	NM_014481.2	83	0,1,1,4059,2441	TT,TC,T,CC,C		0.0297,0.0,0.0189	benign	269/519	55033116	2,10560	2203	4299	6502	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033116C>T	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.805C>T	X.37:g.55033116C>T	ENSP00000364126:p.His269Tyr					APEX2_ENST00000471758.1_3'UTR	p.H269Y	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	871	+			269		H -> Y (identified in a patient with mtDNA maintenance disorders).			Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.805C>T	CCDS14365.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.180	0.793691	0.16327	0.0	2.97E-4	ENSG00000169188	ENST00000374987	T	0.62498	0.02	4.38	1.58	0.23477	Endonuclease/exonuclease/phosphatase (2);	0.552228	0.21055	N	0.080934	T	0.45438	0.1342	L	0.31065	0.9	0.28891	N	0.893829	P	0.41546	0.754	B	0.37888	0.26	T	0.38929	-0.9638	10	0.48119	T	0.1	-0.2556	8.9318	0.35675	0.0:0.7372:0.0:0.2628	.	269	Q9UBZ4	APEX2_HUMAN	Y	269	ENSP00000364126:H269Y	ENSP00000364126:H269Y	H	+	1	0	APEX2	55049841	1.000000	0.71417	0.969000	0.41365	0.948000	0.59901	2.991000	0.49409	0.080000	0.16959	0.600000	0.82982	CAT		0.597	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			3	22	0	0	0	1	0	3	22					T	55033116	C	T	55033116	3	4	279	1	0	0	0	0	1	0	0	0	770	594	21	2	827	2	APEX2	23	55033116	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	1577518	55033116	100237444	24	29950											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-													atcctgctttagtagaaatgAtaaataatcgtcctctgaaa							TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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.F2113fs*9(1)|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						AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(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						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	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.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		18	68						18	68	---	---	---	---	-	76814306	ATAA	-	76814303	7	5	279	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7857-01A-11D-2395-08	21781187	76814303	78456257	25	29951											
IPO13	9670	broad.mit.edu	37	chr1	44415398	44415398	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tggcactggcctcactggctCtcagcatgatgcctgacgct	11	14	2	2	rs138977771	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr1:44415398C>G	ENST00000372343.3	+	2	1056	c.394C>G	c.(394-396)Ctc>Gtc	p.L132V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	132					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)				CTCACTGGCTCTCAGCATGAT	0.587																																						ENST00000372343.3																			0				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						c.(394-396)Ctc>Gtc		importin 13							87	74	79					1																	44415398		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415398C>G	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.394C>G	1.37:g.44415398C>G	ENSP00000361418:p.Leu132Val						p.L132V	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1056	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	132					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.394C>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291620	0.80914	.	.	ENSG00000117408	ENST00000372343	T	0.47177	0.85	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.70787	2.145	0.80722	D	1	P	0.41498	0.752	P	0.46479	0.518	T	0.53592	-0.8417	10	0.26408	T	0.33	-3.2425	19.3078	0.94171	0.0:1.0:0.0:0.0	.	132	O94829	IPO13_HUMAN	V	132	ENSP00000361418:L132V	ENSP00000361418:L132V	L	+	1	0	IPO13	44187985	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.783000	0.85696	2.583000	0.87209	0.491000	0.48974	CTC		0.587	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		17	31	0	0	0	1	0	17	31					G	44415398	C	G	44415398	3	3	280	1	0	0	0	0	1	0	0	0	7794	913	32	4	400	4	IPO13	1	44415398	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		44415398	204835223	1	29952											
SRBD1	55133	broad.mit.edu	37	chr2	45646937	45646937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctcaccttaacaaaaCttctgaacagatgttaatat	4	8	2	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:45646937C>T	ENST00000263736.4	-	17	2208	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I	SRBD1_ENST00000535761.1_Missense_Mutation_p.V235I|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	716					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)			CTTAACAAAACTTCTGAACAG	0.428																																						ENST00000263736.4																			0				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						c.(2146-2148)Gtt>Att		S1 RNA binding domain 1							142	132	136					2																	45646937		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45646937C>T	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.2146G>A	2.37:g.45646937C>T	ENSP00000263736:p.Val716Ile					SRBD1_ENST00000535761.1_Missense_Mutation_p.V235I|SRBD1_ENST00000490133.1_5'UTR	p.V716I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		17	2208	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	716					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2146G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270120	0.40194	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.29397	1.98;1.57	5.74	4.75	0.60458	Tex RuvX-like domain (1);	0.274224	0.35525	N	0.003158	T	0.14227	0.0344	N	0.13098	0.295	0.32302	N	0.564957	B	0.14438	0.01	B	0.17433	0.018	T	0.15206	-1.0445	10	0.18276	T	0.48	.	3.7756	0.08659	0.0:0.6671:0.0:0.3329	.	716	Q8N5C6	SRBD1_HUMAN	I	716;235	ENSP00000263736:V716I;ENSP00000441272:V235I	ENSP00000263736:V716I	V	-	1	0	SRBD1	45500441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.893000	0.69798	2.716000	0.92895	0.563000	0.77884	GTT		0.428	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		24	60	0	0	0	1	0	24	60					T	45646937	C	T	45646937	3	4	280	1	0	0	0	0	1	0	0	0	15132	565	20	2	861	2	SRBD1	2	45646937	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		45646937	197552436	2	29953											
HECW2	57520	broad.mit.edu	37	chr2	197183694	197183694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgcaggagctgtcagcGcattccaggtcactctctcc	9	14	4	0	rs370830289		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:197183694G>A	ENST00000260983.3	-	9	2102	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	HECW2_ENST00000409111.1_Silent_p.C284C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	640					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCTGTCAGCGCATTCCAGGT	0.587																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1918-1920)tgC>tgT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							98	75	83					2																	197183694		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183694G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1920C>T	2.37:g.197183694G>A						HECW2_ENST00000409111.1_Silent_p.C284C	p.C640C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2102	-			640					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1920C>T	CCDS33354.1																																																																																				0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		3	48	0	0	0	1	0	3	48					A	197183694	G	A	197183694	2	1	280	1	0	0	0	0	0	0	0	1	7043	1079	38	1		1	HECW2	2	197183694	Silent	SNP	G	TCGA-HT-7858-01A-11D-2395-08	151536757	197183694	46015679	3	29954											
SGOL2	151246	broad.mit.edu	37	chr2	201400804	201400804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaataagaagcttatagAcatagaagctctcatgaaca	8	7	1	5			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:201400804A>G	ENST00000357799.4	+	4	424	c.326A>G	c.(325-327)gAc>gGc	p.D109G	SGOL2_ENST00000409203.3_Missense_Mutation_p.D109G|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	109					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGCTTATAGACATAGAAGCT	0.299																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(325-327)gAc>gGc		shugoshin-like 2 (S. pombe)							119	117	118					2																	201400804		1805	4059	5864	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201400804A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.326A>G	2.37:g.201400804A>G	ENSP00000350447:p.Asp109Gly					SGOL2_ENST00000409203.3_Missense_Mutation_p.D109G|SGOL2_ENST00000469840.1_3'UTR	p.D109G	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			4	424	+			109					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.326A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.835747	0.50951	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.21932	1.98;1.98	5.34	5.34	0.76211	.	0.199965	0.34906	N	0.003585	T	0.14743	0.0356	N	0.22421	0.69	0.32150	N	0.584297	P;P;P;B	0.41265	0.744;0.744;0.744;0.152	B;B;B;B	0.35770	0.21;0.21;0.21;0.107	T	0.11641	-1.0579	10	0.56958	D	0.05	-9.1729	13.7021	0.62616	1.0:0.0:0.0:0.0	.	109;109;109;109	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	G	109	ENSP00000350447:D109G;ENSP00000386249:D109G	ENSP00000350447:D109G	D	+	2	0	SGOL2	201109049	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.519000	0.53458	2.248000	0.74166	0.533000	0.62120	GAC		0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	95	0	0	0	1	0	4	95					G	201400804	A	G	201400804	3	3	280	1	0	0	0	0	1	0	0	0	14217	275	10	3	336	3	SGOL2	2	201400804	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08	4217110	201400804	41798569	4	29955											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	64	1	0	0.000566183	1	0.000610882	18	64					T	209113113	G	T	209113113	3	4	280	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08	7712309	209113113	34086260	5	29956											
UGT2B28	54490	broad.mit.edu	37	chr4	70152589	70152589	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attgcaacagcccttgccaaGatcccacaaaaggtaagata	7	11	0	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr4:70152589G>C	ENST00000335568.5	+	3	992	c.990G>C	c.(988-990)aaG>aaC	p.K330N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.K330N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	330					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CCCTTGCCAAGATCCCACAAA	0.423																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(988-990)aaG>aaC		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						123	132	129					4																	70152589		2039	4244	6283	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152589G>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.990G>C	4.37:g.70152589G>C	ENSP00000334276:p.Lys330Asn					UGT2B28_ENST00000511240.1_Missense_Mutation_p.K330N	p.K330N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	992	+			330					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.990G>C	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	3.375	-0.127621	0.06753	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.61158	0.13;0.13	1.85	0.9	0.19278	.	0.078138	0.52532	U	0.000067	T	0.52108	0.1714	L	0.49126	1.545	0.24173	N	0.995617	P;B	0.42010	0.768;0.026	P;B	0.47299	0.543;0.015	T	0.47548	-0.9109	10	0.87932	D	0	.	4.564	0.12173	0.3753:0.0:0.6247:0.0	.	330;330	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	N	330	ENSP00000334276:K330N;ENSP00000427399:K330N	ENSP00000334276:K330N	K	+	3	2	UGT2B28	70187178	0.972000	0.33761	0.873000	0.34254	0.049000	0.14656	1.602000	0.36783	0.074000	0.16767	0.184000	0.17185	AAG		0.423	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		11	124	0	0	0	1	0	11	124					C	70152589	G	C	70152589	3	2	280	1	0	0	0	0	1	0	0	0	16957	933	33	4	1000	4	UGT2B28	4	70152589	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		70152589	121001687	6	29957											
FYB	2533	broad.mit.edu	37	chr5	39203057	39203057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccccccgtgttatatttCgccatgagggactttacatc	8	12	0	1			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr5:39203057C>T	ENST00000351578.6	-	2	196	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	2					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(4-6)gcG>gcA		FYN binding protein							86	80	82					5																	39203057		1858	4097	5955	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39203057C>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.6G>A	5.37:g.39203057C>T						FYB_ENST00000512982.1_Silent_p.A2A|FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000505428.1_Silent_p.A2A	p.A2A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	196	-	all_lung(31;0.000343)		2					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.6G>A	CCDS47200.1																																																																																				0.433	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		30	55	0	0	0	1	0	30	55					T	39203057	C	T	39203057	2	4	280	1	0	0	0	0	0	0	0	1	6124	871	31	1		1	FYB	5	39203057	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		39203057	141712203	7	29958											
HOXA1	3198	broad.mit.edu	37	chr7	27134952	27134952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatgtctccgatgcggGggagcgacaggcttcttggt	16	8	2	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:27134952G>A	ENST00000343060.4	-	1	641	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.P126L|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	194					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCGATGCGGGGGAGCGACAG	0.552																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(580-582)Ccc>Tcc		homeobox A1							75	85	81					7																	27134952		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134952G>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.580C>T	7.37:g.27134952G>A	ENSP00000343246:p.Pro194Ser					HOXA1_ENST00000355633.5_Missense_Mutation_p.P126L	p.P194S	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	641	-			194					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.580C>T	CCDS5401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.729050|3.729050	0.69074|0.69074	.|.	.|.	ENSG00000105991|ENSG00000105991	ENST00000355633|ENST00000343060	T|T	0.59224|0.36520	0.28|1.25	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.269862|0.269862	0.43260|0.43260	D|N	0.000600|0.000600	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B|D	0.30361|0.89917	0.277|1.0	B|D	0.27380|0.80764	0.079|0.994	T|T	0.61372|0.61372	-0.7076|-0.7076	10|10	0.87932|0.62326	D|D	0|0.03	.|.	17.2416|17.2416	0.87014|0.87014	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	126|194	E7ERT8|P49639	.|HXA1_HUMAN	L|S	126|194	ENSP00000347851:P126L|ENSP00000343246:P194S	ENSP00000347851:P126L|ENSP00000343246:P194S	P|P	-|-	2|1	0|0	HOXA1|HOXA1	27101477|27101477	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.584000|0.584000	0.36387|0.36387	8.975000|8.975000	0.93437|0.93437	2.612000|2.612000	0.88384|0.88384	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.552	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			36	89	0	0	0	1	0	36	89					A	27134952	G	A	27134952	3	1	280	1	0	0	0	0	1	0	0	0	7288	1232	43	2	435	2	HOXA1	7	27134952	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		27134952	132003711	8	29959											
SSPO	23145	broad.mit.edu	37	chr7	149481078	149481078	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggactgtggagagctgGgcagctgtgtggctggttgt	19	6	0	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:149481078G>A	ENST00000378016.2	+	0	2560							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)			TGGAGAGCTGGGCAGCTGTGT	0.647																																						ENST00000378016.2																			0													SCO-spondin							50	57	55					7																	149481078		2076	4220	6296			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149481078G>A	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.149481078G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2560	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	13	0	0	0	1	0	6	13					A	149481078	G	A	149481078	1	1	280	0	1	0	0	0	0	0	0	0	15188	1232	43	2		2	SSPO	7	149481078	RNA	SNP	G	TCGA-HT-7858-01A-11D-2395-08	122346126	149481078	9657585	9	29960											
PLA2G12B	84647	broad.mit.edu	37	chr10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatcgagtggagacaccatCggaattttgcatcacagcga	11	9	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr10:74700992C>T	ENST00000373032.3	-	3	493	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	134					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)					GAGACACCATCGGAATTTTGC	0.502																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(400-402)cGa>cAa		phospholipase A2, group XIIB							218	200	206					10																	74700992		2203	4300	6503	SO:0001583	missense	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74700992C>T	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.401G>A	10.37:g.74700992C>T	ENSP00000362123:p.Arg134Gln						p.R134Q	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			3	493	-	Prostate(51;0.0198)		134					B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	ENST00000373032.3	37	c.401G>A	CCDS7319.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895316	0.72639	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.51	5.51	0.81932	Phospholipase A2 (2);	0.052956	0.85682	D	0.000000	T	0.66356	0.2781	L	0.39245	1.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	T	0.57528	-0.7796	9	0.06236	T	0.91	0.1822	19.4178	0.94709	0.0:1.0:0.0:0.0	.	134;134	B7ZL23;Q9BX93	.;PG12B_HUMAN	Q	134	.	ENSP00000362123:R134Q	R	-	2	0	PLA2G12B	74370998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.214000	0.77958	2.601000	0.87937	0.655000	0.94253	CGA		0.502	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		10	168	0	0	0	1	0	10	168					T	74700992	C	T	74700992	3	4	280	1	0	0	0	0	1	0	0	0	11991	884	31	1	194	1	PLA2G12B	10	74700992	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		74700992	60833755	10	29961											
OR6C2	341416	broad.mit.edu	37	chr12	55846753	55846753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttccattgcctatggaagCtgcatcttcatctatatcaa	6	10	4	0			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr12:55846753C>T	ENST00000322678.1	+	1	756	c.756C>T	c.(754-756)agC>agT	p.S252S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	252					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTATGGAAGCTGCATCTTCA	0.428																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(754-756)agC>agT		olfactory receptor, family 6, subfamily C, member 2							126	124	125					12																	55846753		2203	4299	6502	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846753C>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.756C>T	12.37:g.55846753C>T						RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.S252S	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	756	+			252						Silent	SNP	ENST00000322678.1	37	c.756C>T	CCDS31824.1																																																																																				0.428	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		5	110	0	0	0	1	0	5	110					T	55846753	C	T	55846753	2	4	280	1	0	0	0	0	0	0	0	1	11191	796	28	2		2	OR6C2	12	55846753	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		55846753	78005142	11	29962											
CNOT1	23019	broad.mit.edu	37	chr16	58564252	58564252	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcatacataggccacccCtgaaagaaagaaatgtacat	8	9	0	3			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr16:58564252C>A	ENST00000317147.5	-	43	6510		c.e43-1		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000245138.4_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						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)		TAGGCCACCCCTGAAAGAAAG	0.393																																						ENST00000317147.5																			0				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						c.e43-1		CCR4-NOT transcription complex, subunit 1							49	50	50					16																	58564252		2198	4300	6498	SO:0001630	splice_region_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58564252C>A	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.6178-1G>T	16.37:g.58564252C>A						CNOT1_ENST00000245138.4_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site		NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	43	6510	-								Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	SNP	ENST00000317147.5	37		CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539951	0.85917	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT1	57121753	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	6.045000	0.71020	2.814000	0.96858	0.650000	0.86243	.		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Intron	6	55	1	0	0.00198382	1	0.00208555	6	55					A	58564252	C	A	58564252	5	1	280	1	0	0	0	0	0	0	1	0	3617	695	24	4	981	4	CNOT1	16	58564252	Splice_Site	SNP	C	TCGA-HT-7858-01A-11D-2395-08		58564252	31790501	12	29963											
PITPNM3	83394	broad.mit.edu	37	chr17	6358837	6358837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgcgcttccgcaggaActctggctgcgcgtgcagcc	15	13	1	0			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:6358837A>C	ENST00000262483.8	-	20	2833	c.2746T>G	c.(2746-2748)Ttc>Gtc	p.F916V	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.F880V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	916					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)		TTCCGCAGGAACTCTGGCTGC	0.697																																						ENST00000262483.8																			0											c.(2746-2748)Ttc>Gtc									23	28	26					17																	6358837		2196	4297	6493	SO:0001583	missense	0							g.chr17:6358837A>C	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.2746T>G	17.37:g.6358837A>C	ENSP00000262483:p.Phe916Val					ACKR6_ENST00000421306.3_Missense_Mutation_p.F880V|ACKR6_ENST00000576664.1_5'UTR	p.F916V	NM_031220.3	NP_112497.2					20	2833	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2746T>G	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335494	0.81801	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.45668	0.89;0.89	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.79926	2.475	0.43819	D	0.996386	B;D	0.63880	0.365;0.993	B;P	0.52598	0.126;0.703	T	0.55636	-0.8110	10	0.09590	T	0.72	.	12.5741	0.56354	1.0:0.0:0.0:0.0	.	880;916	F8WEW5;Q9BZ71	.;PITM3_HUMAN	V	916;880	ENSP00000262483:F916V;ENSP00000407882:F880V	ENSP00000262483:F916V	F	-	1	0	PITPNM3	6299561	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.222000	0.78025	1.921000	0.55644	0.414000	0.27820	TTC		0.697	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		3	37	0	0	0	1	0	3	37					C	6358837	A	C	6358837	3	2	280	1	0	0	0	0	1	0	0	0	11952	43	2	5	182	5	PITPNM3	17	6358837	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		6358837	74836373	13	29964											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	16	0	0	0	1	0	31	16					T	7578406	C	T	7578406	3	4	280	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	1219569	7578406	73616804	14	29965											
CD300LB	124599	broad.mit.edu	37	chr17	72521999	72521999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatggtcacagtgaaCgtgcggtctttctgattgtc	10	12	3	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:72521999C>T	ENST00000392621.1	-	2	373	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_ENST00000314401.3_Silent_p.T123T	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(367-369)acG>acA		CD300 molecule-like family member b							254	225	235					17																	72521999		2203	4300	6503	SO:0001819	synonymous_variant	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72521999C>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.369G>A	17.37:g.72521999C>T						CD300LB_ENST00000314401.3_Silent_p.T123T	p.T123T	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	373	-			86					Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	c.369G>A	CCDS11700.1																																																																																				0.517	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		69	156	0	0	0	1	0	69	156					T	72521999	C	T	72521999	2	4	280	1	0	0	0	0	0	0	0	1	2999	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	64943593	72521999	8673211	15	29966											
CYTH1	9267	broad.mit.edu	37	chr17	76694917	76694917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacccggaggagctcctcCggcaggtctcccccatcatt	9	17	2	0	rs201122386		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:76694917C>T	ENST00000446868.3	-	8	754	c.684G>A	c.(682-684)ccG>ccA	p.P228P	RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Silent_p.P169P|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Silent_p.P228P|CYTH1_ENST00000361101.4_Silent_p.P228P|CYTH1_ENST00000589297.1_Silent_p.P169P			Q15438	CYH1_HUMAN	cytohesin 1	228					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						GGAGCTCCTCCGGCAGGTCTC	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18383	0.0		0.0	False		,,,				2504	0.0					ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(505-507)ccG>ccA		cytohesin 1							158	162	161					17																	76694917		2203	4300	6503	SO:0001819	synonymous_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694917C>T	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.684G>A	17.37:g.76694917C>T						CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Silent_p.P228P|CYTH1_ENST00000585509.1_Silent_p.P169P|CYTH1_ENST00000591455.1_Silent_p.P228P|CYTH1_ENST00000361101.4_Silent_p.P228P	p.P169P			Q15438	CYH1_HUMAN			8	1199	-			228			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Silent	SNP	ENST00000446868.3	37	c.507G>A																																																																																					0.488	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		41	196	0	0	0	1	0	41	196					T	76694917	C	T	76694917	2	4	280	1	0	0	0	0	0	0	0	1	4203	639	23	1		1	CYTH1	17	76694917	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	4172918	76694917	4500293	16	29967											
DSC3	1825	broad.mit.edu	37	chr18	28574169	28574169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcatgcttctgctaatGtaataaatttgggttccaaa	8	6	1	0			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr18:28574169G>C	ENST00000360428.4	-	16	2743	c.2663C>G	c.(2662-2664)aCa>aGa	p.T888R	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	888					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGCTAATGTAATAAATTT	0.388																																						ENST00000360428.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2662-2664)aCa>aGa		desmocollin 3							75	78	77					18																	28574169		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28574169G>C	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2663C>G	18.37:g.28574169G>C	ENSP00000353608:p.Thr888Arg					DSC3_ENST00000434452.1_3'UTR	p.T888R	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		16	2743	-			888					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2663C>G	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955805	0.73902	.	.	ENSG00000134762	ENST00000360428	T	0.76968	-1.06	4.92	4.92	0.64577	Cadherin, cytoplasmic domain (1);	0.678770	0.11717	N	0.536271	T	0.79661	0.4484	L	0.54965	1.715	0.80722	D	1	B	0.28971	0.229	B	0.35899	0.213	T	0.76672	-0.2873	10	0.66056	D	0.02	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	888	Q14574	DSC3_HUMAN	R	888	ENSP00000353608:T888R	ENSP00000353608:T888R	T	-	2	0	DSC3	26828167	1.000000	0.71417	0.734000	0.30879	0.990000	0.78478	6.148000	0.71788	2.711000	0.92665	0.563000	0.77884	ACA		0.388	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		13	48	0	0	0	1	0	13	48					C	28574169	G	C	28574169	3	2	280	1	0	0	0	0	1	0	0	0	4767	1377	48	4	31	4	DSC3	18	28574169	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		28574169	49503079	17	29968											
CACNG8	59283	broad.mit.edu	37	chr19	54466583	54466583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcacggccggcggcgacGacgggaccccccaccgcggg	15	19	1	0			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr19:54466583G>A	ENST00000270458.2	+	1	290	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	63					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGGCGACGACGGGACCCC	0.701																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(187-189)Gac>Aac		calcium channel, voltage-dependent, gamma subunit 8							18	19	19					19																	54466583		2197	4290	6487	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466583G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.187G>A	19.37:g.54466583G>A	ENSP00000270458:p.Asp63Asn						p.D63N	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	290	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		63					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.187G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246924	0.39697	.	.	ENSG00000142408	ENST00000270458	T	0.46451	0.87	3.66	2.51	0.30379	.	0.237373	0.33691	U	0.004644	T	0.38665	0.1049	M	0.66939	2.045	0.25006	N	0.99144	B	0.25743	0.133	B	0.16722	0.016	T	0.57406	-0.7817	9	0.66056	D	0.02	-4.1434	10.662	0.45708	0.0:0.0:0.8095:0.1905	.	63	Q8WXS5	CCG8_HUMAN	N	63	ENSP00000270458:D63N	ENSP00000270458:D63N	D	+	1	0	CACNG8	59158395	0.890000	0.30428	0.116000	0.21606	0.759000	0.43091	3.947000	0.56652	1.778000	0.52293	0.297000	0.19635	GAC		0.701	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			4	27	0	0	0	1	0	4	27					A	54466583	G	A	54466583	3	1	280	1	0	0	0	0	1	0	0	0	2563	1058	37	1	189	1	CACNG8	19	54466583	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		54466583	4662400	18	29969											
GZF1	64412	broad.mit.edu	37	chr20	23345745	23345745	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctaaaaagaaatatacgaGaagactccgagagcagcaga	9	9	0	5			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr20:23345745G>C	ENST00000338121.5	+	2	802	c.725G>C	c.(724-726)aGa>aCa	p.R242T	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R242T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	242					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	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 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 (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAATATACGAGAAGACTCCGA	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(724-726)aGa>aCa		GDNF-inducible zinc finger protein 1							43	51	48					20																	23345745		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345745G>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.725G>C	20.37:g.23345745G>C	ENSP00000338290:p.Arg242Thr					GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R242T|GZF1_ENST00000542987.1_Intron	p.R242T			Q9H116	GZF1_HUMAN			2	802	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		242					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.725G>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853196	0.32699	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10668	2.85;2.85	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000015	T	0.24236	0.0587	L	0.36672	1.1	0.50813	D	0.99989	D	0.76494	0.999	D	0.78314	0.991	T	0.01341	-1.1380	10	0.52906	T	0.07	.	16.6771	0.85282	0.0:0.0:1.0:0.0	.	242	Q9H116	GZF1_HUMAN	T	242	ENSP00000338290:R242T;ENSP00000366250:R242T	ENSP00000338290:R242T	R	+	2	0	GZF1	23293745	0.993000	0.37304	0.344000	0.25628	0.236000	0.25371	5.314000	0.65804	2.245000	0.73994	0.544000	0.68410	AGA		0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		25	50	0	0	0	1	0	25	50					C	23345745	G	C	23345745	3	2	280	1	0	0	0	0	1	0	0	0	6914	942	33	4	727	4	GZF1	20	23345745	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		23345745	39679775	19	29970											
NCOA3	8202	broad.mit.edu	37	chr20	46264191	46264191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggcttacagatgccgaGcagcagggcctatggcttgg	14	11	0	1			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr20:46264191G>A	ENST00000371998.3	+	11	1429	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	NCOA3_ENST00000372004.3_Missense_Mutation_p.S413N|NCOA3_ENST00000371997.3_Missense_Mutation_p.S423N|NCOA3_ENST00000341724.6_Missense_Mutation_p.S423N			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	413					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGATGCCGAGCAGCAGGGCC	0.552																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1237-1239)aGc>aAc		nuclear receptor coactivator 3							66	56	60					20																	46264191		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264191G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1238G>A	20.37:g.46264191G>A	ENSP00000361066:p.Ser413Asn					NCOA3_ENST00000371997.3_Missense_Mutation_p.S423N|NCOA3_ENST00000371998.3_Missense_Mutation_p.S413N|NCOA3_ENST00000341724.6_Missense_Mutation_p.S423N	p.S413N	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			11	1454	+			413					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1238G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	6.270	0.417892	0.11870	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.02395	4.32;4.48;4.48;4.31	5.46	-4.88	0.03113	.	1.008400	0.07944	N	0.979798	T	0.01940	0.0061	N	0.16743	0.435	0.21325	N	0.999722	B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.10450	0.003;0.002;0.003;0.003;0.005;0.001	T	0.48007	-0.9072	10	0.39692	T	0.17	-0.7124	7.84	0.29393	0.6129:0.2442:0.1429:0.0	.	413;423;417;413;413;413	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	N	413;423;413;413;423;179	ENSP00000342123:S423N;ENSP00000361073:S413N;ENSP00000361066:S413N;ENSP00000361065:S423N	ENSP00000345671:S413N	S	+	2	0	NCOA3	45697598	0.998000	0.40836	0.681000	0.30009	0.031000	0.12232	0.126000	0.15769	-0.462000	0.06984	-0.768000	0.03414	AGC		0.552	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	46	0	0	0	1	0	3	46					A	46264191	G	A	46264191	3	1	280	1	0	0	0	0	1	0	0	0	10230	971	34	2	1302	2	NCOA3	20	46264191	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08	22918446	46264191	16761329	20	29971											
DSCAM	1826	broad.mit.edu	37	chr21	41710291	41710291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttttcattggtcgaAtgcttgcaggccctggagag	13	7	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr21:41710291A>C	ENST00000400454.1	-	8	1997	c.1520T>G	c.(1519-1521)aTt>aGt	p.I507S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	507	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTGGTCGAATGCTTGCAGG	0.403																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1519-1521)aTt>aGt		Down syndrome cell adhesion molecule							132	124	127					21																	41710291		1911	4126	6037	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710291A>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1520T>G	21.37:g.41710291A>C	ENSP00000383303:p.Ile507Ser						p.I507S	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	1997	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	507			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1520T>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187678	0.78789	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.78126	-1.15;-1.15	5.77	5.77	0.91146	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059840	0.64402	D	0.000003	D	0.87120	0.6098	M	0.92784	3.345	0.58432	D	0.999997	P	0.47191	0.891	P	0.49012	0.598	D	0.90230	0.4278	10	0.87932	D	0	.	16.086	0.81049	1.0:0.0:0.0:0.0	.	507	O60469	DSCAM_HUMAN	S	507;259	ENSP00000383303:I507S;ENSP00000385342:I259S	ENSP00000383303:I507S	I	-	2	0	DSCAM	40632161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.142000	0.94618	2.198000	0.70561	0.533000	0.62120	ATT		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	21	0	0	0	1	0	11	21					C	41710291	A	C	41710291	3	2	280	1	0	0	0	0	1	0	0	0	4768	101	4	5	4622	5	DSCAM	21	41710291	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		41710291	6419604	21	29972											
MTMR3	8897	broad.mit.edu	37	chr22	30416522	30416522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacacccaatgggcattgCgccaatggggaggctggtag	14	12	0	0	rs147400483	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30416522C>T	ENST00000401950.2	+	17	3216	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	MTMR3_ENST00000323630.5_Silent_p.C822C|MTMR3_ENST00000333027.3_Silent_p.C958C|MTMR3_ENST00000406629.1_Silent_p.C958C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Silent_p.C958C|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	958					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)	p.C958C(2)		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)			ATGGGCATTGCGCCAATGGGG	0.582																																						ENST00000333027.3																			2	Substitution - coding silent(2)	p.C958C(2)	ovary(2)	breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2872-2874)tgC>tgT		myotubularin related protein 3		T	,,	3,4403	6.2+/-15.9	0,3,2200	77	66	70		2874,2874,2874	-1.8	0.6	22	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,	958/1199,958/1171,958/1162	30416522	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416522C>T	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.2874C>T	22.37:g.30416522C>T						CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.C958C|MTMR3_ENST00000323630.5_Silent_p.C822C|MTMR3_ENST00000401950.2_Silent_p.C958C|MTMR3_ENST00000351488.3_Silent_p.C958C	p.C958C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3202	+			958					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2874C>T	CCDS13870.1																																																																																				0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		22	56	0	0	0	1	0	22	56					T	30416522	C	T	30416522	2	4	280	1	0	0	0	0	0	0	0	1	9945	776	27	1		1	MTMR3	22	30416522	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		30416522	20888044	22	29973											
SEC14L4	284904	broad.mit.edu	37	chr22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catccggctgtaggtgttgtCgaagcgcaggacatctgcag	14	10	1	0	rs564814217		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30886219C>T	ENST00000255858.7	-	12	1179	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000381982.3_Intron|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.D351N|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		24192	0.001		0.0	False		,,,				2504	0.0					ENST00000540456.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(1051-1053)Gac>Aac		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						144	108	120					22																	30886219		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30886219C>T	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1096G>A	22.37:g.30886219C>T	ENSP00000255858:p.Asp366Asn					SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000381982.3_Intron	p.D351N			Q9UDX3	S14L4_HUMAN			13	1244	-			366			GOLD.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.1051G>A	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896318	0.91962	.	.	ENSG00000133488	ENST00000255858;ENST00000540456	T;T	0.58652	0.32;0.32	4.34	4.34	0.51931	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89127	0.3507	10	0.72032	D	0.01	0.2618	15.9892	0.80188	0.0:1.0:0.0:0.0	.	351;366	G3V1L4;Q9UDX3	.;S14L4_HUMAN	N	366;351	ENSP00000255858:D366N;ENSP00000440848:D351N	ENSP00000255858:D366N	D	-	1	0	SEC14L4	29216219	1.000000	0.71417	0.980000	0.43619	0.870000	0.49936	7.269000	0.78482	2.151000	0.67156	0.491000	0.48974	GAC		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		6	68	0	0	0	1	0	6	68					T	30886219	C	T	30886219	3	4	280	1	0	0	0	0	1	0	0	0	13984	884	31	1	134	1	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	469697	30886219	20418347	23	29974											
ATRX	546	broad.mit.edu	37	chrX	76939540	76939540	+	Frame_Shift_Del	DEL	T	T	-													ccaatgcaagatgagccttcTtaatatcagccaacacagac							TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chrX:76939540delT	ENST00000373344.5	-	9	1422	c.1208delA	c.(1207-1209)aagfs	p.K404fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K366fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	404					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						ATGAGCCTTCTTAATATCAGC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1207-1209)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						195	204	201					X																	76939540		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939540delT	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.1208delA	X.37:g.76939540delT	ENSP00000362441:p.Lys404fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K366fs	p.K404fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1422	-			404					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1208delA	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		176	103						176	103	---	---	---	---	-	76939540	T	-	76939540	7	5	280	1	0	1	0	1	0	0	0	0	1208	1609	56	0	6378	0	ATRX	23	76939540	Frame_Shift_Del	DEL	T	TCGA-HT-7858-01A-11D-2395-08		76939540	78331020	24	29975											
GRHL3	57822	broad.mit.edu	37	chr1	24671385	24671385	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttttcacttcattgcAggcagccccctcggcaggac	9	14	3	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:24671385A>C	ENST00000350501.5	+	12	1546		c.e12-1		GRHL3_ENST00000361548.4_Splice_Site|GRHL3_ENST00000236255.4_Splice_Site|GRHL3_ENST00000356046.2_Splice_Site|GRHL3_ENST00000342072.4_Splice_Site	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)						central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACTTCATTGCAGGCAGCCCCC	0.572																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.e12-1		grainyhead-like 3 (Drosophila)							106	106	106					1																	24671385		2203	4300	6503	SO:0001630	splice_region_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24671385A>C	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"transcription factor CP2-like 4"	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1420-1A>C	1.37:g.24671385A>C						GRHL3_ENST00000356046.2_Splice_Site|GRHL3_ENST00000350501.5_Splice_Site|GRHL3_ENST00000342072.4_Splice_Site|GRHL3_ENST00000236255.4_Splice_Site		NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	12	1649	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)						A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Splice_Site	SNP	ENST00000350501.5	37		CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044867	0.36085	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.73	0.51730	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRHL3	24543972	0.571000	0.26659	1.000000	0.80357	0.324000	0.28378	0.637000	0.24659	2.202000	0.70862	0.533000	0.62120	.		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	Intron	24	45	0	0	0	1	0	24	45					C	24671385	A	C	24671385	5	2	281	1	0	0	0	0	0	0	1	0	6765	202	7	5	1500	5	GRHL3	1	24671385	Splice_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08		24671385	224579236	1	29976											
WDR65	149465	broad.mit.edu	37	chr1	43675514	43675514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgggaaccattcGtgccatgaagtaccctctgc	10	14	1	1	rs181283378	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:43675514G>A	ENST00000372492.4	+	11	2180	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H	WDR65_ENST00000528956.1_Missense_Mutation_p.R619H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		619										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)				GGAACCATTCGTGCCATGAAG	0.552													g|||	6	0.00119808	0.0	0.0	5008	,	,		19298	0.006		0.0	False		,,,				2504	0.0					ENST00000372492.4																			0				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						c.(1855-1857)cGt>cAt		WD repeat domain 65							176	145	155					1																	43675514		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43675514G>A																												ENST00000372492.4:c.1856G>A	1.37:g.43675514G>A	ENSP00000361570:p.Arg619His					WDR65_ENST00000528956.1_Missense_Mutation_p.R619H	p.R619H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			11	2180	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	619					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1856G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	32	5.130458	0.94473	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.48836	0.8;3.26	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.132801	0.50627	D	0.000103	T	0.71736	0.3375	M	0.81802	2.56	0.47009	D	0.999282	D;D	0.89917	1.0;1.0	D;D	0.76575	0.985;0.988	T	0.69781	-0.5052	10	0.38643	T	0.18	.	19.9425	0.97170	0.0:0.0:1.0:0.0	.	619;619	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	619	ENSP00000361570:R619H;ENSP00000435310:R619H	ENSP00000361570:R619H	R	+	2	0	WDR65	43448101	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.301000	0.78850	2.721000	0.93114	0.543000	0.68304	CGT		0.552	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			38	61	0	0	0	1	0	38	61					A	43675514	G	A	43675514	3	1	281	1	0	0	0	0	1	0	0	0	17313	1145	40	1	1894	1	WDR65	1	43675514	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	19004129	43675514	205575107	2	29977											
TTC4	7268	broad.mit.edu	37	chr1	55181589	55181589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatcagctatggaacAacctgggcaggatcccacct	11	13	1	0	rs552735985	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:55181589A>G	ENST00000371281.3	+	1	95	c.8A>G	c.(7-9)cAa>cGa	p.Q3R	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_Intron	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	3										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GCTATGGAACAACCTGGGCAG	0.642																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(7-9)cAa>cGa		tetratricopeptide repeat domain 4							54	40	45					1																	55181589		2203	4299	6502	SO:0001583	missense	7268						binding	g.chr1:55181589A>G		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"Tetratricopeptide (TTC) repeat domain containing"	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.8A>G	1.37:g.55181589A>G	ENSP00000360329:p.Gln3Arg					MROH7_ENST00000414150.2_Intron|TTC4_ENST00000371284.5_3'UTR	p.Q3R	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			1	95	+			3					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.8A>G	CCDS596.1	.	.	.	.	.	.	.	.	.	.	A	7.184	0.590184	0.13812	.	.	ENSG00000243725	ENST00000371281	T	0.13420	2.59	4.83	-9.66	0.00534	.	.	.	.	.	T	0.03651	0.0104	N	0.03050	-0.425	0.20563	N	0.99989	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	9	0.10636	T	0.68	.	8.2361	0.31627	0.4825:0.3731:0.1444:0.0	.	3	O95801	TTC4_HUMAN	R	3	ENSP00000360329:Q3R	ENSP00000360329:Q3R	Q	+	2	0	TTC4	54954177	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.443000	0.01013	-2.479000	0.00524	-1.272000	0.01410	CAA		0.642	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		8	15	0	0	0	1	0	8	15					G	55181589	A	G	55181589	3	3	281	1	0	0	0	0	1	0	0	0	16707	130	5	3	10	3	TTC4	1	55181589	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08	11506075	55181589	194069032	3	29978											
LCE2A	353139	broad.mit.edu	37	chr1	152671462	152671462	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgtcctccaaagtgcCgacctcagtgcccagcccca	8	18	1	0	rs200493380		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:152671462C>T	ENST00000368779.1	+	2	136	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	29	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGTGCCGACCTCAGTG	0.637																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(85-87)Cga>Tga		late cornified envelope 2A							71	86	81					1																	152671462		2203	4300	6503	SO:0001587	stop_gained	353139				keratinization			g.chr1:152671462C>T		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.85C>T	1.37:g.152671462C>T	ENSP00000357768:p.Arg29*						p.R29*	NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	136	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Cys-rich.		A4QMZ9	Nonsense_Mutation	SNP	ENST00000368779.1	37	c.85C>T	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	c	11.83	1.756424	0.31137	.	.	ENSG00000187173	ENST00000368779	.	.	.	4.66	0.581	0.17407	.	.	.	.	.	.	.	.	.	.	.	0.36171	D	0.848779	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	3.6239	0.08105	0.1729:0.5349:0.0:0.2922	.	.	.	.	X	29	.	ENSP00000357768:R29X	R	+	1	2	LCE2A	150938086	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-1.119000	0.03276	-0.175000	0.10725	-0.175000	0.13238	CGA		0.637	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		71	123	0	0	0	1	0	71	123					T	152671462	C	T	152671462	4	4	281	1	0	0	0	0	0	1	0	0	8665	644	23	1	87	1	LCE2A	1	152671462	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	97489873	152671462	96579159	4	29979											
DDR2	4921	broad.mit.edu	37	chr1	162746049	162746049	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgggtaagaactacacaatCaagatagctgactttggaat	10	6	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:162746049C>A	ENST00000367922.3	+	17	2610	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	DDR2_ENST00000367921.3_Silent_p.I724I|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	724	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)	ACTACACAATCAAGATAGCTG	0.488																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2170-2172)atC>atA		discoidin domain receptor tyrosine kinase 2							144	142	143					1																	162746049		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162746049C>A	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.2172C>A	1.37:g.162746049C>A						DDR2_ENST00000367921.3_Silent_p.I724I	p.I724I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		17	2610	+	all_hematologic(112;0.115)		724			Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.2172C>A	CCDS1241.1																																																																																				0.488	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		72	162	1	0	5.97199e-22	1	6.27825e-22	72	162					A	162746049	C	A	162746049	2	1	281	1	0	0	0	0	0	0	0	1	4337	816	29	4		4	DDR2	1	162746049	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	10074587	162746049	86504572	5	29980											
PTPRC	5788	broad.mit.edu	37	chr1	198687263	198687263	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtctccatgacatcAgataatagtatgcatgtcaa	7	8	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:198687263A>T	ENST00000367376.2	+	14	1656	c.1485A>T	c.(1483-1485)tcA>tcT	p.S495S	PTPRC_ENST00000352140.3_Silent_p.S447S|PTPRC_ENST00000594404.1_Silent_p.S334S|PTPRC_ENST00000442510.2_Silent_p.S497S|PTPRC_ENST00000348564.6_Silent_p.S336S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	495	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CCATGACATCAGATAATAGTA	0.388																																						ENST00000367376.2																			0				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						c.(1483-1485)tcA>tcT		protein tyrosine phosphatase, receptor type, C							76	72	73					1																	198687263		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198687263A>T	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.1485A>T	1.37:g.198687263A>T						PTPRC_ENST00000348564.6_Silent_p.S336S|PTPRC_ENST00000442510.2_Silent_p.S497S|PTPRC_ENST00000352140.3_Silent_p.S447S|PTPRC_ENST00000594404.1_Silent_p.S334S	p.S495S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			14	1656	+			495			Fibronectin type-III 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.1485A>T																																																																																					0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				23	35	0	0	0	1	0	23	35					T	198687263	A	T	198687263	2	4	281	1	0	0	0	0	0	0	0	1	12797	175	7	5		5	PTPRC	1	198687263	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08	35941214	198687263	50563358	6	29981											
PLXNA2	5362	broad.mit.edu	37	chr1	208272302	208272302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcctgttggcatttgtcCctgcgggagcacctgccata	12	13	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:208272302C>A	ENST00000367033.3	-	6	2377	c.1620G>T	c.(1618-1620)agG>agT	p.R540S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	540					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)		GGCATTTGTCCCTGCGGGAGC	0.557																																						ENST00000367033.3																			0				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						c.(1618-1620)agG>agT		plexin A2							63	51	55					1																	208272302		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208272302C>A	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.1620G>T	1.37:g.208272302C>A	ENSP00000356000:p.Arg540Ser						p.R540S	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	6	2377	-			540					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1620G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539258	0.45176	.	.	ENSG00000076356	ENST00000367033	T	0.17370	2.28	4.42	3.21	0.36854	.	0.094116	0.64402	D	0.000001	T	0.22975	0.0555	M	0.82132	2.575	0.54753	D	0.999986	B	0.22346	0.068	B	0.22753	0.041	T	0.05500	-1.0881	10	0.87932	D	0	.	9.9109	0.41406	0.0:0.8713:0.0:0.1287	.	540	O75051	PLXA2_HUMAN	S	540	ENSP00000356000:R540S	ENSP00000356000:R540S	R	-	3	2	PLXNA2	206338925	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.124000	0.31320	0.748000	0.32831	0.561000	0.74099	AGG		0.557	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		13	17	1	0	5.50884e-06	1	5.59989e-06	13	17					A	208272302	C	A	208272302	3	1	281	1	0	0	0	0	1	0	0	0	12120	622	22	4	4172	4	PLXNA2	1	208272302	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	9585039	208272302	40978319	7	29982											
C2orf71	388939	broad.mit.edu	37	chr2	29295046	29295046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagctttgccttgttcGtcctcaggatggggattgca	11	11	1	0	rs376411163		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:29295046G>A	ENST00000331664.5	-	1	2081	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	694					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCTTGTTCGTCCTCAGGAT	0.532																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(2080-2082)gaC>gaT		chromosome 2 open reading frame 71		G		1,4153		0,1,2076	129	125	126		2082	-10.5	0	2		126	0,8452		0,0,4226	no	coding-synonymous	C2orf71	NM_001029883.1		0,1,6302	AA,AG,GG		0.0,0.0241,0.0079		694/1289	29295046	1,12605	2077	4226	6303	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295046G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2082C>T	2.37:g.29295046G>A							p.D694D	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	2081	-			694						Silent	SNP	ENST00000331664.5	37	c.2082C>T	CCDS42669.1																																																																																				0.532	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		42	93	0	0	0	1	0	42	93					A	29295046	G	A	29295046	2	1	281	1	0	0	0	0	0	0	0	1	2191	1136	40	1		1	C2orf71	2	29295046	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		29295046	213904327	8	29983											
EHBP1	23301	broad.mit.edu	37	chr2	63182658	63182658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcttttaagcatcgaTtgttatctagacaagaagaa	7	6	2	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:63182658T>C	ENST00000263991.5	+	15	2910	c.2428T>C	c.(2428-2430)Ttg>Ctg	p.L810L	EHBP1_ENST00000354487.3_Silent_p.L775L|EHBP1_ENST00000405015.3_Silent_p.L775L|EHBP1_ENST00000405289.1_Silent_p.L775L|EHBP1_ENST00000431489.1_Silent_p.L775L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	810						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGCATCGATTGTTATCTAG	0.358																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(2428-2430)Ttg>Ctg		EH domain binding protein 1							73	69	70					2																	63182658		2203	4300	6503	SO:0001819	synonymous_variant	23301					cytoplasm|membrane		g.chr2:63182658T>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2428T>C	2.37:g.63182658T>C						EHBP1_ENST00000354487.3_Silent_p.L775L|EHBP1_ENST00000405015.3_Silent_p.L775L|EHBP1_ENST00000431489.1_Silent_p.L775L|EHBP1_ENST00000405289.1_Silent_p.L775L	p.L810L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		15	2910	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		810					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.2428T>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	T	9.183	1.024196	0.19433	.	.	ENSG00000115504	ENST00000444311	.	.	.	5.73	3.32	0.38043	.	.	.	.	.	T	0.61874	0.2382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56938	-0.7896	4	.	.	.	.	11.3991	0.49860	0.7566:0.0:0.0:0.2434	.	.	.	.	T	34	.	.	I	+	2	0	EHBP1	63036162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.875000	0.48491	0.498000	0.27948	-0.275000	0.10095	ATT		0.358	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		7	17	0	0	0	1	0	7	17					C	63182658	T	C	63182658	2	2	281	1	0	0	0	0	0	0	0	1	4975	1490	52	3		3	EHBP1	2	63182658	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	33887612	63182658	180016715	9	29984											
ZNF638	27332	broad.mit.edu	37	chr2	71576931	71576931	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtcctccaataatcggTcctttttctcagttgagagt	9	9	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:71576931T>A	ENST00000409544.1	+	2	1477	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.S283T|ZNF638_ENST00000355812.3_Missense_Mutation_p.S283T|ZNF638_ENST00000377802.2_Missense_Mutation_p.S283T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	283					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						CAATAATCGGTCCTTTTTCTC	0.428																																						ENST00000409544.1																			0				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						c.(847-849)Tcc>Acc		zinc finger protein 638							141	137	139					2																	71576931		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576931T>A	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.847T>A	2.37:g.71576931T>A	ENSP00000386433:p.Ser283Thr					ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.S283T|ZNF638_ENST00000377802.2_Missense_Mutation_p.S283T|ZNF638_ENST00000264447.4_Missense_Mutation_p.S283T	p.S283T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			2	1477	+			283					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.847T>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531447	0.45073	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.73152	-0.13;-0.72;0.45;-0.11;1.45;1.45	5.77	2.19	0.27852	.	0.456975	0.24007	N	0.042411	T	0.66317	0.2777	N	0.24115	0.695	0.29962	N	0.819279	D;D;D;D;D	0.61697	0.982;0.982;0.99;0.982;0.982	D;D;D;D;D	0.72982	0.961;0.961;0.979;0.952;0.961	T	0.59799	-0.7386	10	0.12430	T	0.62	-0.4382	6.5136	0.22236	0.0:0.2734:0.0:0.7266	.	389;283;283;283;283	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	T	283;389;283;283;283;283	ENSP00000386669:S283T;ENSP00000438189:S389T;ENSP00000348066:S283T;ENSP00000367033:S283T;ENSP00000264447:S283T;ENSP00000386433:S283T	ENSP00000264447:S283T	S	+	1	0	ZNF638	71430439	0.989000	0.36119	0.992000	0.48379	0.953000	0.61014	0.744000	0.26245	0.461000	0.27071	0.533000	0.62120	TCC		0.428	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		58	115	0	0	0	1	0	58	115					A	71576931	T	A	71576931	3	1	281	1	0	0	0	0	1	0	0	0	18052	1667	58	5	849	5	ZNF638	2	71576931	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8394273	71576931	171622442	10	29985											
SNRNP200	23020	broad.mit.edu	37	chr2	96962796	96962796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactttggcagcttttccaCtggaagcagttgctagaaga	10	8	0	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:96962796C>T	ENST00000323853.5	-	12	1467	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	SNRNP200_ENST00000349783.5_Missense_Mutation_p.V464M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	464					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGCTTTTCCACTGGAAGCAGT	0.483																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1390-1392)Gtg>Atg		small nuclear ribonucleoprotein 200kDa (U5)							61	62	62					2																	96962796		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96962796C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1390G>A	2.37:g.96962796C>T	ENSP00000317123:p.Val464Met					SNRNP200_ENST00000349783.5_Missense_Mutation_p.V464M	p.V464M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			12	1467	-			464					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1390G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763630	0.69878	.	.	ENSG00000144028	ENST00000323853;ENST00000349783;ENST00000540328	T;T	0.37235	1.21;1.21	5.74	5.74	0.90152	.	0.056675	0.64402	D	0.000001	T	0.42291	0.1196	M	0.72894	2.215	0.58432	D	0.999994	P	0.37061	0.58	B	0.34180	0.177	T	0.46775	-0.9167	10	0.87932	D	0	-18.8641	18.6945	0.91596	0.0:1.0:0.0:0.0	.	464	O75643	U520_HUMAN	M	464;464;139	ENSP00000317123:V464M;ENSP00000326937:V464M	ENSP00000317123:V464M	V	-	1	0	SNRNP200	96326523	1.000000	0.71417	0.990000	0.47175	0.809000	0.45718	4.171000	0.58236	2.717000	0.92951	0.655000	0.94253	GTG		0.483	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		28	42	0	0	0	1	0	28	42					T	96962796	C	T	96962796	3	4	281	1	0	0	0	0	1	0	0	0	14852	565	20	2	5156	2	SNRNP200	2	96962796	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	25385865	96962796	146236577	11	29986											
CNGA3	1261	broad.mit.edu	37	chr2	98999852	98999852	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctaccttcccgcagcGcctggcccctggccaaatgc	8	19	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:98999852G>A	ENST00000272602.2	+	4	436	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000393504.1_Splice_Site_p.A133T|CNGA3_ENST00000409937.1_Splice_Site_p.A137T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	133					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						TTCCCGCAGCGCCTGGCCCCT	0.587																																						ENST00000393504.1																			0				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						c.e5-1		cyclic nucleotide gated channel alpha 3							104	93	97					2																	98999852		2203	4300	6503	SO:0001630	splice_region_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999852G>A	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.396-1G>A	2.37:g.98999852G>A						CNGA3_ENST00000409937.1_Splice_Site_p.A137_splice|CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Splice_Site_p.A133_splice	p.A133_splice	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			5	814	+			133					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Splice_Site	SNP	ENST00000272602.2	37	c.395_splice	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	g	5.864	0.343634	0.11126	.	.	ENSG00000144191	ENST00000393504;ENST00000272602;ENST00000409937	D;D;D	0.97480	-4.27;-4.27;-4.4	4.76	2.01	0.26516	.	1.357460	0.04976	N	0.464775	D	0.91257	0.7244	N	0.14661	0.345	0.09310	N	1	B;B	0.26318	0.001;0.146	B;B	0.17098	0.001;0.017	D	0.83488	0.0068	10	0.14252	T	0.57	.	5.5645	0.17163	0.2727:0.1383:0.589:0.0	.	137;133	E9PF93;Q16281	.;CNGA3_HUMAN	T	133;133;137	ENSP00000377140:A133T;ENSP00000272602:A133T;ENSP00000386761:A137T	ENSP00000272602:A133T	A	+	1	0	CNGA3	98366284	0.003000	0.15002	0.029000	0.17559	0.018000	0.09664	0.914000	0.28624	0.015000	0.14971	-1.978000	0.00458	GCC		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	Missense_Mutation	20	54	0	0	0	1	0	20	54					A	98999852	G	A	98999852	5	1	281	1	0	0	0	0	0	0	1	0	3598	1101	38	1	411	1	CNGA3	2	98999852	Splice_Site	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2037056	98999852	144199521	12	29987											
TTN	7273	broad.mit.edu	37	chr2	179577501	179577501	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtatattctccactttgtGatgtatctacatcgaacaac	5	9	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:179577501G>T	ENST00000591111.1	-	92	26524	c.26300C>A	c.(26299-26301)tCa>tAa	p.S8767*	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S9084*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7840*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12923	Ig-like 70.				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)			TCCACTTTGTGATGTATCTAC	0.423																																						ENST00000589042.1																			0				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						c.(27250-27252)tCa>tAa		titin							89	85	87					2																	179577501		1922	4118	6040	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577501G>T	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.26300C>A	2.37:g.179577501G>T	ENSP00000465570:p.Ser8767*					TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8767*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7840*	p.S9084*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	27475	-			8767			Ig-like 74.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.27251C>A		.	.	.	.	.	.	.	.	.	.	G	59	37.137888	0.99984	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.48	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0056	0.30323	0.269:0.0:0.731:0.0	.	.	.	.	X	7840	.	ENSP00000343764:S7840X	S	-	2	0	TTN	179285746	0.997000	0.39634	0.273000	0.24645	0.967000	0.64934	3.654000	0.54453	1.449000	0.47699	0.655000	0.94253	TCA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	38	1	0	2.68362e-12	1	2.75071e-12	13	38					T	179577501	G	T	179577501	4	4	281	1	0	0	0	0	0	1	0	0	16732	1294	45	4	77354	4	TTN	2	179577501	Nonsense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	80577649	179577501	63621872	13	29988											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693519	187693519	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatacacttcctgtgaaacTttaaaaaaaaggtaagctaa	5	7	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:187693519T>A	ENST00000295131.2	-	9	1135		c.e9-2			NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2						apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTGTGAAACTTTAAAAAAAA	0.279																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.e9-2		zinc finger, SWIM-type containing 2							26	26	26					2																	187693519		2193	4296	6489	SO:0001630	splice_region_variant	151112				apoptosis		zinc ion binding	g.chr2:187693519T>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1096-2A>T	2.37:g.187693519T>A								NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1135	-								B3KXV6|Q53SI3|Q57ZY3	Splice_Site	SNP	ENST00000295131.2	37		CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253095	0.59212	.	.	ENSG00000163012	ENST00000295131	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.278	0.54747	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZSWIM2	187401764	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.122000	0.64697	1.957000	0.56846	0.482000	0.46254	.		0.279	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	Intron	5	10	0	0	0	1	0	5	10					A	187693519	T	A	187693519	5	1	281	1	0	0	0	0	0	0	1	0	18238	1623	56	5	811	5	ZSWIM2	2	187693519	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8116018	187693519	55505854	14	29989											
SPEG	10290	broad.mit.edu	37	chr2	220299748	220299748	+	Frame_Shift_Del	DEL	C	C	-													aggatgcgggcacgagggcaCcccccagccccggagtgccc							TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:220299748delC	ENST00000312358.7	+	1	181	c.49delC	c.(49-51)cccfs	p.P18fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	18					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)		CACGAGGGCACCCCCCAGCCC	0.766																																						ENST00000312358.7																			0				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						c.(49-51)ccfs		SPEG complex locus							2	2	2					2																	220299748		1173	2804	3977	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220299748delC	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.49delC	2.37:g.220299748delC	ENSP00000311684:p.Pro18fs						p.P18fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	1	181	+		Renal(207;0.0183)	18					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.49delC	CCDS42824.1																																																																																				0.766	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4						2	4	---	---	---	---	-	220299748	C	-	220299748	7	5	281	1	0	1	0	1	0	0	0	0	15035	507	18	0	51	0	SPEG	2	220299748	Frame_Shift_Del	DEL	C	TCGA-HT-7860-01A-11D-2395-08	32606229	220299748	22899625	15	29990											
UGT1A4	54657	broad.mit.edu	37	chr2	234627498	234627498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaggttcccctgccgcGgctggccacaggactgctgc	12	17	0	0	rs149314940		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:234627498G>A	ENST00000373409.3	+	1	75	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	11			R -> W (in dbSNP:rs3892221).		cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	CCCCTGCCGCGGCTGGCCACA	0.627											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0	0.0	5008	,	,		17489	0.001		0.0	False		,,,				2504	0.0				Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(31-33)cGg>cAg				G	,GLN/ARG,,,,,,	0,4406		0,0,2203	47	46	46		,32,,,,,,	-8.9	0	2	dbSNP_134	46	1,8599	2.2+/-6.3	0,1,4299	no	intron,missense,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,43,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	,11/535,,,,,,	234627498	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr2:234627498G>A	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.32G>A	2.37:g.234627498G>A	ENSP00000362508:p.Arg11Gln		OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2375	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	p.R11Q	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	75	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.32G>A	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	G	2.874	-0.233262	0.05983	0.0	1.16E-4	ENSG00000244474	ENST00000373409	T	0.58940	0.3	4.44	-8.88	0.00789	.	.	.	.	.	T	0.33818	0.0876	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.13045	-1.0524	9	0.19147	T	0.46	.	1.8113	0.03091	0.1928:0.2095:0.4234:0.1743	.	11;11	B8K288;P22310	.;UD14_HUMAN	Q	11	ENSP00000362508:R11Q	ENSP00000362508:R11Q	R	+	2	0	UGT1A4	234292237	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.988000	0.01482	-5.410000	0.00015	-3.859000	0.00018	CGG		0.627	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		22	60	0	0	0	1	0	22	60					A	234627498	G	A	234627498	3	1	281	1	0	0	0	0	1	0	0	0	16944	1116	39	1	34	1	UGT1A4	2	234627498	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	14327750	234627498	8571875	16	29991											
IQCF1	132141	broad.mit.edu	37	chr3	51929217	51929217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttggacagtatcagccGccaccagcactgaatgatgc	9	12	2	2	rs200134435		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:51929217G>A	ENST00000310914.5	-	4	369	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	103										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTATCAGCCGCCACCAGCAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17108	0.0		0.001	False		,,,				2504	0.0					ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(307-309)Cgg>Tgg		IQ motif containing F1		G	TRP/ARG	0,4406		0,0,2203	43	43	43		307	2.7	0.6	3		43	4,8596	3.0+/-9.4	0,4,4296	yes	missense	IQCF1	NM_152397.2	101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	103/206	51929217	4,13002	2203	4300	6503	SO:0001583	missense	132141							g.chr3:51929217G>A	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.307C>T	3.37:g.51929217G>A	ENSP00000307958:p.Arg103Trp						p.R103W	NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	369	-			103					Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.307C>T	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694212	0.68386	0.0	4.65E-4	ENSG00000173389	ENST00000310914	D	0.87029	-2.2	4.75	2.74	0.32292	.	0.391809	0.22113	N	0.064442	D	0.91556	0.7333	M	0.73598	2.24	0.29020	N	0.886334	D	0.89917	1.0	D	0.72625	0.978	D	0.85858	0.1408	10	0.87932	D	0	-17.6743	9.417	0.38528	0.0:0.0:0.4667:0.5333	.	103	Q8N6M8	IQCF1_HUMAN	W	103	ENSP00000307958:R103W	ENSP00000307958:R103W	R	-	1	2	IQCF1	51904257	0.864000	0.29904	0.638000	0.29380	0.953000	0.61014	0.921000	0.28718	0.572000	0.29383	0.549000	0.68633	CGG		0.637	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		59	82	0	0	0	1	0	59	82					A	51929217	G	A	51929217	3	1	281	1	0	0	0	0	1	0	0	0	7807	1086	38	1	314	1	IQCF1	3	51929217	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		51929217	146093213	17	29992											
ST3GAL6	10402	broad.mit.edu	37	chr3	98503881	98503881	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgactcctatgatgtaataaTaaggtaaatatattttctat	5	5	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:98503881T>A	ENST00000483910.1	+	6	717	c.428T>A	c.(427-429)aTa>aAa	p.I143K	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.I143K|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	143					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						GATGTAATAATAAGGTAAATA	0.348																																						ENST00000394162.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(427-429)aTa>aAa		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							58	63	61					3																	98503881		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98503881T>A	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.428T>A	3.37:g.98503881T>A	ENSP00000417376:p.Ile143Lys					ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.I143K	p.I143K	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN			7	895	+			143					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.428T>A	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283073	0.80803	.	.	ENSG00000064225	ENST00000483910;ENST00000486334;ENST00000394162;ENST00000492254;ENST00000477574;ENST00000485145	T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	M	0.91717	3.235	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.78336	-0.2243	10	0.87932	D	0	-8.8464	13.9323	0.64003	0.0:0.0:0.0:1.0	.	166;143	C9J480;Q9Y274	.;SIA10_HUMAN	K	143;143;143;166;108;57	ENSP00000417376:I143K;ENSP00000418896:I143K;ENSP00000377717:I143K;ENSP00000417201:I166K;ENSP00000419987:I108K;ENSP00000419202:I57K	ENSP00000377717:I143K	I	+	2	0	ST3GAL6	99986571	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.461000	0.66699	2.225000	0.72522	0.528000	0.53228	ATA		0.348	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		14	24	0	0	0	1	0	14	24					A	98503881	T	A	98503881	3	1	281	1	0	0	0	0	1	0	0	0	15218	1406	49	5	446	5	ST3GAL6	3	98503881	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	46574664	98503881	99518549	18	29993											
TRIM42	287015	broad.mit.edu	37	chr3	140401985	140401985	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctcactcttcagcgccatCgccaagttcaaagcaggtcc	8	16	4	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:140401985C>T	ENST00000286349.3	+	2	1214	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	341						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGCGCCATCGCCAAGTTCA	0.542																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1021-1023)atC>atT		tripartite motif containing 42							116	110	112					3																	140401985		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140401985C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1023C>T	3.37:g.140401985C>T							p.I341I	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	1214	+			341					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1023C>T	CCDS3113.1																																																																																				0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		21	54	0	0	0	1	0	21	54					T	140401985	C	T	140401985	2	4	281	1	0	0	0	0	0	0	0	1	16514	874	31	1		1	TRIM42	3	140401985	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	41898104	140401985	57620445	19	29994											
PCDH7	5099	broad.mit.edu	37	chr4	30725552	30725552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacgactctggtgcaCgtgtttgtcaatgaaagtgt	10	10	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr4:30725552C>A	ENST00000361762.2	+	1	3516	c.2508C>A	c.(2506-2508)caC>caA	p.H836Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.H836Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	836	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTCTGGTGCACGTGTTTGTCA	0.493																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2506-2508)caC>caA		protocadherin 7							68	66	66					4																	30725552		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725552C>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2508C>A	4.37:g.30725552C>A	ENSP00000355243:p.His836Gln					PCDH7_ENST00000543491.1_Missense_Mutation_p.H836Q	p.H836Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3516	+			836			Cadherin 7.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2508C>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.87|12.87	2.067347|2.067347	0.36470|0.36470	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.50277|.	0.75;0.75|.	4.96|4.96	0.651|0.651	0.17817|0.17817	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.58969|0.58969	1.84|1.84	0.41768|0.41768	D|D	0.989752|0.989752	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.55592|0.55592	-0.8117|-0.8117	9|5	0.72032|.	D|.	0.01|.	.|.	9.6776|9.6776	0.40050|0.40050	0.0:0.3001:0.0:0.6999|0.0:0.3001:0.0:0.6999	.|.	836;789;836|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Q|S	836;836;789|526	ENSP00000355243:H836Q;ENSP00000441802:H836Q|.	ENSP00000330302:H789Q|.	H|R	+|+	3|1	2|0	PCDH7|PCDH7	30334650|30334650	0.711000|0.711000	0.27906|0.27906	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	-0.168000|-0.168000	0.09925|0.09925	0.283000|0.283000	0.22279|0.22279	-0.294000|-0.294000	0.09567|0.09567	CAC|CGT		0.493	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		24	33	1	0	3.10358e-05	1	3.12902e-05	24	33					A	30725552	C	A	30725552	3	1	281	1	0	0	0	0	1	0	0	0	11516	535	19	4	2510	4	PCDH7	4	30725552	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		30725552	160428724	20	29995											
SPEF2	79925	broad.mit.edu	37	chr5	35697831	35697831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgcaaaatcagaacagTtgctgaagaaaggaaagagc	12	5	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:35697831T>C	ENST00000356031.3	+	15	2231	c.2077T>C	c.(2077-2079)Ttg>Ctg	p.L693L	SPEF2_ENST00000509059.1_Silent_p.L688L|SPEF2_ENST00000440995.2_Silent_p.L688L|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	693					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAGAACAGTTGCTGAAGAA	0.353																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2062-2064)Ttg>Ctg		sperm flagellar 2							132	125	127					5																	35697831		1927	4125	6052	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35697831T>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2077T>C	5.37:g.35697831T>C						SPEF2_ENST00000509059.1_Silent_p.L688L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.L693L	p.L688L			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		15	2062	+	all_lung(31;7.56e-05)		693					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.2062T>C	CCDS43309.1																																																																																				0.353	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		23	43	0	0	0	1	0	23	43					C	35697831	T	C	35697831	2	2	281	1	0	0	0	0	0	0	0	1	15034	1722	60	3		3	SPEF2	5	35697831	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08		35697831	145217429	21	29996											
PPIP5K2	23262	broad.mit.edu	37	chr5	102513667	102513667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catctggctatggatatagaCcagcttccagagaggtaatg	11	8	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:102513667C>G	ENST00000358359.3	+	23	3249	c.2740C>G	c.(2740-2742)Cca>Gca	p.P914A	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P914A|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.P914A	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	914					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						TGGATATAGACCAGCTTCCAG	0.378																																						ENST00000321521.9																			0				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						c.(2740-2742)Cca>Gca		diphosphoinositol pentakisphosphate kinase 2							78	77	78					5																	102513667		2201	4297	6498	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102513667C>G	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.2740C>G	5.37:g.102513667C>G	ENSP00000351126:p.Pro914Ala					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P914A|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P914A	p.P914A			O43314	VIP2_HUMAN			23	3313	+			914					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.2740C>G		.	.	.	.	.	.	.	.	.	.	C	26.9	4.785625	0.90282	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.26660	2.44;2.44;2.44;1.72	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.50411	0.1614	M	0.77486	2.375	0.80722	D	1	B;P;D	0.55172	0.023;0.938;0.97	B;P;P	0.56700	0.073;0.804;0.77	T	0.51301	-0.8723	10	0.72032	D	0.01	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	929;914;914	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	A	914;914;929;914;188	ENSP00000313070:P914A;ENSP00000351126:P914A;ENSP00000416016:P914A;ENSP00000424948:P188A	ENSP00000313070:P914A	P	+	1	0	PPIP5K2	102541566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.768000	0.85345	2.770000	0.95276	0.655000	0.94253	CCA		0.378	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		21	76	0	0	0	1	0	21	76					G	102513667	C	G	102513667	3	3	281	1	0	0	0	0	1	0	0	0	12333	507	18	4	2826	4	PPIP5K2	5	102513667	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	66815836	102513667	78401593	22	29997											
APBB3	10307	broad.mit.edu	37	chr5	139941733	139941733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacggatgtgcaccagaggcTggcagtggatcagactgtgg	16	9	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:139941733T>A	ENST00000357560.4	-	6	1021	c.578A>T	c.(577-579)cAg>cTg	p.Q193L	SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000354402.5_Missense_Mutation_p.Q193L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q193L|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.Q193L|APBB3_ENST00000358580.5_Missense_Mutation_p.Q193L|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.Q193L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	193	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGAGGCTGGCAGTGGAT	0.602																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(577-579)cAg>cTg		amyloid beta (A4) precursor protein-binding, family B, member 3							79	73	75					5																	139941733		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139941733T>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.578A>T	5.37:g.139941733T>A	ENSP00000350171:p.Gln193Leu					APBB3_ENST00000511201.2_Missense_Mutation_p.Q193L|APBB3_ENST00000356738.2_Missense_Mutation_p.Q193L|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.Q193L|APBB3_ENST00000358580.5_Missense_Mutation_p.Q193L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q193L	p.Q193L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1021	-			193			PID 1.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.578A>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879619	0.72294	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.80422	2.495	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.48927	-0.8991	9	.	.	.	-5.674	11.7792	0.52003	0.0:0.0699:0.0:0.9301	.	193;193	O95704-2;O95704-3	.;.	L	193	ENSP00000351389:Q193L;ENSP00000349177:Q193L;ENSP00000346378:Q193L;ENSP00000350171:Q193L;ENSP00000402591:Q193L;ENSP00000424317:Q193L	.	Q	-	2	0	APBB3	139921917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.924000	0.56476	2.164000	0.68074	0.533000	0.62120	CAG		0.602	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		28	53	0	0	0	1	0	28	53					A	139941733	T	A	139941733	3	1	281	1	0	0	0	0	1	0	0	0	762	1580	55	5	931	5	APBB3	5	139941733	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	37428066	139941733	40973527	23	29998											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869027	140869027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaggagaatgggcgcTatttttccctgagcttgatg	13	8	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:140869027T>C	ENST00000252087.1	+	1	220	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGGGCGCTATTTTTCCCT	0.562																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(220-222)Tat>Cat									94	97	96					5																	140869027		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869027T>C	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.220T>C	5.37:g.140869027T>C	ENSP00000252087:p.Tyr74His					PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron	p.Y74H	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	220	+			74			Cadherin 1.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.220T>C	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	T	7.429	0.638343	0.14386	.	.	ENSG00000240764	ENST00000252087	T	0.30182	1.54	5.53	4.35	0.52113	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.158118	0.30043	N	0.010556	T	0.39436	0.1078	M	0.70787	2.145	0.32703	N	0.512577	P;P	0.41008	0.661;0.735	B;P	0.48598	0.338;0.583	T	0.51849	-0.8653	10	0.37606	T	0.19	.	7.0692	0.25169	0.1335:0.0732:0.0:0.7932	.	74;74	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	H	74	ENSP00000252087:Y74H	ENSP00000252087:Y74H	Y	+	1	0	PCDHGC5	140849211	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	3.398000	0.52579	0.898000	0.36418	-0.333000	0.08304	TAT		0.562	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		56	57	0	0	0	1	0	56	57					C	140869027	T	C	140869027	3	2	281	1	0	0	0	0	1	0	0	0	11571	1522	53	3	222	3	PCDHGC5	5	140869027	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	927294	140869027	40046233	24	29999											
CD74	972	broad.mit.edu	37	chr5	149782733	149782733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggggacctccgtgccGttggggaagacacaccagca	15	11	0	1	rs377610250		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:149782733G>A	ENST00000009530.7	-	7	769	c.768C>T	c.(766-768)aaC>aaT	p.N256N	CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	256	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTGCCGTTGGGGAAGA	0.597			T	ROS1	NSCLC								G|||	1	0.000199681	0.0	0.0	5008	,	,		20955	0.0		0.0	False		,,,				2504	0.001					ENST00000009530.7				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(766-768)aaC>aaT		CD74 molecule, major histocompatibility complex, class II invariant chain		G	,,	2,4196		0,2,2097	84	93	90		,768,	2.5	1	5		90	0,8456		0,0,4228	no	intron,coding-synonymous,intron	CD74	NM_001025158.2,NM_001025159.2,NM_004355.3	,,	0,2,6325	AA,AG,GG		0.0,0.0476,0.0158	,,	,256/297,	149782733	2,12652	2099	4228	6327	SO:0001819	synonymous_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149782733G>A		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.768C>T	5.37:g.149782733G>A						CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Intron	p.N256N			P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	769	-		all_hematologic(541;0.224)	256			Thyroglobulin type-1.		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Silent	SNP	ENST00000009530.7	37	c.768C>T	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281351	0.23392	4.76E-4	0.0	ENSG00000019582	ENST00000518797	.	.	.	5.61	2.47	0.30058	.	.	.	.	.	T	0.52451	0.1735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	-36.4467	5.429	0.16442	0.512:0.0:0.488:0.0	.	.	.	.	W	251	.	.	R	-	1	2	CD74	149762926	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.485000	0.35519	0.726000	0.32339	0.561000	0.74099	CGG		0.597	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		22	66	0	0	0	1	0	22	66					A	149782733	G	A	149782733	2	1	281	1	0	0	0	0	0	0	0	1	3035	1136	40	1		1	CD74	5	149782733	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8913706	149782733	31132527	25	30000											
HAVCR1	26762	broad.mit.edu	37	chr5	156476111	156476111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgctccctgcagtgtcGtagggtgggtttctgctggc	14	9	1	0	rs201642411		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:156476111G>A	ENST00000339252.3	-	4	1251	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000517644.1_5'UTR	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	235					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCAGTGTCGTAGGGTGGGT	0.483													g|||	1	0.000199681	0.0	0.0	5008	,	,		17628	0.001		0.0	False		,,,				2504	0.0					ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(718-720)aCg>aTg		hepatitis A virus cellular receptor 1		A	MET/THR,MET/THR,MET/THR	3,4075		0,3,2036	222	217	218		719,719,719	-1.9	0	5		218	1,8387		0,1,4193	yes	missense,missense,missense	HAVCR1	NM_012206.2,NM_001173393.1,NM_001099414.1	81,81,81	0,4,6229	AA,AG,GG		0.0119,0.0736,0.0321	benign,benign,benign	240/365,240/365,240/365	156476111	4,12462	2039	4194	6233	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156476111G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.719C>T	5.37:g.156476111G>A	ENSP00000344844:p.Thr240Met					HAVCR1_ENST00000522693.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T240M	p.T240M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	1251	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	235					O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.719C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	g	2.773	-0.255306	0.05829	7.36E-4	1.19E-4	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.16597	2.33;2.41;2.41;2.33;2.41	3.43	-1.85	0.07784	.	.	.	.	.	T	0.07593	0.0191	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30146	0.166;0.27;0.27	B;B;B	0.16289	0.007;0.015;0.015	T	0.33497	-0.9866	9	0.25106	T	0.35	0.0046	5.0107	0.14312	0.3864:0.0:0.4571:0.1565	.	240;235;235	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	M	240	ENSP00000428524:T240M;ENSP00000427898:T240M;ENSP00000344844:T240M;ENSP00000403333:T240M;ENSP00000440258:T240M	ENSP00000344844:T240M	T	-	2	0	HAVCR1	156408689	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.904000	0.04080	-0.780000	0.04553	-2.811000	0.00111	ACG		0.483	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			47	91	0	0	0	1	0	47	91					A	156476111	G	A	156476111	3	1	281	1	0	0	0	0	1	0	0	0	6973	1145	40	1	395	1	HAVCR1	5	156476111	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6693378	156476111	24439149	26	30001											
PWWP2A	114825	broad.mit.edu	37	chr5	159546021	159546022	+	Frame_Shift_Ins	INS	-	-	G													cctcgcgctcctcgggagccINSgggggctgctccggcggcga							TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:159546021_159546022insG	ENST00000307063.7	-	1	408_409	c.374_375insC	c.(373-375)ccgfs	p.P125fs	PWWP2A_ENST00000523662.1_Frame_Shift_Ins_p.P125fs|PWWP2A_ENST00000456329.3_Frame_Shift_Ins_p.P125fs	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	125	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	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)			CCTCGGGAGCCGGGGGCTGCTC	0.748																																						ENST00000456329.3																			0				kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(373-375)cgcfs		PWWP domain containing 2A																																				SO:0001589	frameshift_variant	114825							g.chr5:159546021_159546022insG		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.375dupC	5.37:g.159546026_159546026dupG	ENSP00000305151:p.Pro125fs					PWWP2A_ENST00000307063.7_Frame_Shift_Ins_p.R125fs|PWWP2A_ENST00000523662.1_Frame_Shift_Ins_p.R125fs	p.R125fs	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	408_409	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	125			Pro-rich.		G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Frame_Shift_Ins	INS	ENST00000307063.7	37	c.374_375insC	CCDS47332.1																																																																																				0.748	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			14	37						14	37	---	---	---	---	G	159546022	-	G	159546021	7	5	281	1	0	1	1	0	0	0	0	0	12845	639	23	0	2042	0	PWWP2A	5	159546021	Frame_Shift_Ins	INS	-	TCGA-HT-7860-01A-11D-2395-08	3069910	159546021	21369239	27	30002											
TFAP2D	83741	broad.mit.edu	37	chr6	50683145	50683145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttattaacctgcacaatgCgcgggcgctcaagtcgtcct	9	13	1	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr6:50683145C>A	ENST00000008391.3	+	2	584	c.356C>A	c.(355-357)gCg>gAg	p.A119E		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGCACAATGCGCGGGCGCTC	0.622																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(355-357)gCg>gAg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							83	81	82					6																	50683145		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683145C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.356C>A	6.37:g.50683145C>A	ENSP00000008391:p.Ala119Glu						p.A119E	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	584	+	Lung NSC(77;0.0334)		119						Missense_Mutation	SNP	ENST00000008391.3	37	c.356C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749480	0.49257	.	.	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.21	5.21	0.72293	.	0.115877	0.64402	D	0.000018	D	0.95121	0.8419	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.94732	0.7910	10	0.27785	T	0.31	-18.5246	19.1268	0.93388	0.0:1.0:0.0:0.0	.	119	Q7Z6R9	AP2D_HUMAN	E	119	ENSP00000008391:A119E	ENSP00000008391:A119E	A	+	2	0	TFAP2D	50791104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.590000	0.87494	0.655000	0.94253	GCG		0.622	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		58	105	1	0	6.60958e-23	1	7.00843e-23	58	105					A	50683145	C	A	50683145	3	1	281	1	0	0	0	0	1	0	0	0	15787	768	27	4	362	4	TFAP2D	6	50683145	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		50683145	120431922	28	30003											
MACC1	346389	broad.mit.edu	37	chr7	20198442	20198442	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatagcctggcagattcgaGagtctttttaggtttggggt	13	5	1	2	rs149661432	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:20198442G>T	ENST00000400331.5	-	5	1850	c.1542C>A	c.(1540-1542)ctC>ctA	p.L514L	MACC1_ENST00000589011.1_Silent_p.L514L|MACC1_ENST00000332878.4_Silent_p.L514L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	514					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCAGATTCGAGAGTCTTTTTA	0.393																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1540-1542)ctC>ctA		metastasis associated in colon cancer 1							102	110	108					7																	20198442		2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198442G>T		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1542C>A	7.37:g.20198442G>T						MACC1_ENST00000589011.1_Silent_p.L514L|MACC1_ENST00000332878.4_Silent_p.L514L	p.L514L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1850	-			514					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.1542C>A	CCDS5369.1																																																																																				0.393	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		53	129	1	0	4.17463e-26	1	4.46504e-26	53	129					T	20198442	G	T	20198442	2	4	281	1	0	0	0	0	0	0	0	1	9143	929	33	4		4	MACC1	7	20198442	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		20198442	138940221	29	30004											
KEL	3792	broad.mit.edu	37	chr7	142658923	142658923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattccacctgcctggctgcGttccctcggctcttcctcac	7	19	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:142658923G>A	ENST00000355265.2	-	2	514	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	14					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCTGGCTGCGTTCCCTCGGC	0.542																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(40-42)Cgc>Tgc		Kell blood group, metallo-endopeptidase							259	220	233					7																	142658923		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658923G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.40C>T	7.37:g.142658923G>A	ENSP00000347409:p.Arg14Cys					KEL_ENST00000479768.2_5'UTR	p.R14C	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			2	514	-	Melanoma(164;0.059)		14					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.40C>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.93|11.93	1.785412|1.785412	0.31593|0.31593	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000355265;ENST00000476829|ENST00000460479	D;T|.	0.83335|.	-1.71;0.78|.	4.67|4.67	0.533|0.533	0.17121|0.17121	.|.	5.372630|.	0.00508|.	N|.	0.000168|.	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|.	0.36616|.	0.561|.	B|.	0.31547|.	0.132|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.38643|.	T|.	0.18|.	22.4756|22.4756	2.9706|2.9706	0.05922|0.05922	0.0964:0.3194:0.4006:0.1836|0.0964:0.3194:0.4006:0.1836	.|.	14|.	P23276|.	KELL_HUMAN|.	C|M	14|24	ENSP00000347409:R14C;ENSP00000419889:R14C|.	ENSP00000347409:R14C|.	R|T	-|-	1|2	0|0	KEL|KEL	142369045|142369045	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.289000|1.289000	0.33307|0.33307	-0.082000|-0.082000	0.12640|0.12640	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		107	346	0	0	0	1	0	107	346					A	142658923	G	A	142658923	3	1	281	1	0	0	0	0	1	0	0	0	8142	1145	40	1	2230	1	KEL	7	142658923	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	122460481	142658923	16479740	30	30005											
NOBOX	135935	broad.mit.edu	37	chr7	144096940	144096940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcgccacttggcccggCgattctggaaccacacctat	8	14	1	0	rs201947677		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:144096940C>T	ENST00000467773.1	-	6	1063	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R238H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R323H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	355			R -> H (in POF5). {ECO:0000269|PubMed:17701902}.		oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTGGCCCGGCGATTCTGGAA	0.542																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	GRCh37	CM073237	NOBOX	M		c.(1063-1065)cGc>cAc		NOBOX oogenesis homeobox							73	76	75					7																	144096940		1955	4147	6102	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096940C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1064G>A	7.37:g.144096940C>T	ENSP00000419457:p.Arg355His					NOBOX_ENST00000223140.5_Missense_Mutation_p.R238H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R323H	p.R355H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			6	1063	-	Melanoma(164;0.14)		355		R -> H (in POF5).			A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.1064G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.257133	0.80246	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97553	-4.43;-4.42;-4.43	5.55	4.67	0.58626	Homeodomain-related (1);Homeobox (2);	0.060082	0.64402	D	0.000006	D	0.98695	0.9562	M	0.93241	3.395	0.40731	A	0.982749	D	0.89917	1.0	D	0.87578	0.998	D	0.99930	1.1311	9	0.87932	D	0	-29.6398	12.3015	0.54876	0.0:0.918:0.0:0.082	.	355	O60393	NOBOX_HUMAN	H	323;355;238;112	ENSP00000419565:R323H;ENSP00000419457:R355H;ENSP00000223140:R238H	ENSP00000223140:R238H	R	-	2	0	NOBOX	143727873	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	5.277000	0.65586	1.352000	0.45808	0.650000	0.86243	CGC		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		10	24	0	0	0	1	0	10	24					T	144096940	C	T	144096940	3	4	281	1	0	0	0	0	1	0	0	0	10512	768	27	1	1031	1	NOBOX	7	144096940	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1438017	144096940	15041723	31	30006											
MSR1	4481	broad.mit.edu	37	chr8	16026364	16026364	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaattcttcgtttccCacttcaggagttgagctgta	9	10	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:16026364C>T	ENST00000262101.5	-	4	354	c.233G>A	c.(232-234)tGg>tAg	p.W78*	MSR1_ENST00000355282.2_Nonsense_Mutation_p.W78*|MSR1_ENST00000350896.3_Nonsense_Mutation_p.W78*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.W96*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.W78*|MSR1_ENST00000536385.1_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	78	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCGTTTCCCACTTCAGGAG	0.388																																						ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(232-234)tGg>tAg		macrophage scavenger receptor 1							113	107	109					8																	16026364		2203	4300	6503	SO:0001587	stop_gained	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026364C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.233G>A	8.37:g.16026364C>T	ENSP00000262101:p.Trp78*					MSR1_ENST00000262101.5_Nonsense_Mutation_p.W78*|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Nonsense_Mutation_p.W96*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.W78*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.W78*	p.W78*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	430	-			78			Spacer (Probable).		D3DSP3|O60505|P21759|Q45F10	Nonsense_Mutation	SNP	ENST00000262101.5	37	c.233G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135481	0.77662	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	.	.	.	5.05	2.06	0.26882	.	0.308076	0.24343	N	0.039341	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.0299	0.14404	0.3776:0.5246:0.0:0.0978	.	.	.	.	X	78;78;96;78;78	.	ENSP00000262101:W78X	W	-	2	0	MSR1	16070735	0.644000	0.27277	0.989000	0.46669	0.188000	0.23474	0.855000	0.27805	1.263000	0.44181	0.650000	0.86243	TGG		0.388	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			25	53	0	0	0	1	0	25	53					T	16026364	C	T	16026364	4	4	281	1	0	0	0	0	0	1	0	0	9886	595	21	2	1198	2	MSR1	8	16026364	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		16026364	130337658	32	30007											
PSD3	23362	broad.mit.edu	37	chr8	18490301	18490301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgagggagactttttTttctcttcatcatctctaaa	5	9	5	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:18490301T>C	ENST00000327040.8	-	11	2334	c.2232A>G	c.(2230-2232)aaA>aaG	p.K744K	PSD3_ENST00000523619.1_Silent_p.K679K|PSD3_ENST00000440756.2_Silent_p.K746K|PSD3_ENST00000428502.2_Silent_p.K73K|PSD3_ENST00000286485.8_Silent_p.K210K	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	745					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGACTTTTTTTTCTCTTCAT	0.358																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2236-2238)aaA>aaG		pleckstrin and Sec7 domain containing 3							125	103	110					8																	18490301		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18490301T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2232A>G	8.37:g.18490301T>C						PSD3_ENST00000523619.1_Silent_p.K679K|PSD3_ENST00000428502.2_Silent_p.K73K|PSD3_ENST00000286485.8_Silent_p.K210K|PSD3_ENST00000327040.8_Silent_p.K744K	p.K746K			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	11	2340	-			745					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.2238A>G	CCDS43720.1																																																																																				0.358	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		21	24	0	0	0	1	0	21	24					C	18490301	T	C	18490301	2	2	281	1	0	0	0	0	0	0	0	1	12648	1838	64	3		3	PSD3	8	18490301	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	2463937	18490301	127873721	33	30008											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22969288	22969288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttccccagcagacagTggccccacagcaacagaggc	12	14	0	2	rs569858474		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:22969288T>C	ENST00000356864.3	+	2	648	c.116T>C	c.(115-117)gTg>gCg	p.V39A	TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	39					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCAGACAGTGGCCCCACAG	0.507																																						ENST00000356864.3																			0				endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15						c.(115-117)gTg>gCg		tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain							82	69	73					8																	22969288		2203	4300	6503	SO:0001583	missense	8794				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22969288T>C	AF012536	CCDS6037.1	8p22-p21	2006-02-22			ENSG00000173535	ENSG00000173535		"Tumor necrosis factor receptor superfamily", "CD molecules"	11906	protein-coding gene	gene with protein product		603613				9314565, 9325248	Standard	NM_003841		Approved	DcR1, TRAILR3, LIT, TRID, CD263	uc003xcy.3	O14798	OTTHUMG00000097844	ENST00000356864.3:c.116T>C	8.37:g.22969288T>C	ENSP00000349324:p.Val39Ala					TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR	p.V39A	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	2	648	+		Prostate(55;0.0421)|Breast(100;0.067)	39					O14755|Q08AS6|Q6FH98|Q6UXM5	Missense_Mutation	SNP	ENST00000356864.3	37	c.116T>C	CCDS6037.1	.	.	.	.	.	.	.	.	.	.	T	1.601	-0.526510	0.04141	.	.	ENSG00000173535	ENST00000356864;ENST00000544885	T	0.61510	0.1	1.63	-0.405	0.12392	.	3.247740	0.03328	U	0.192904	T	0.35711	0.0941	N	0.25890	0.77	0.09310	N	1	B	0.29862	0.259	B	0.19666	0.026	T	0.09930	-1.0652	10	0.06494	T	0.89	.	3.8876	0.09105	0.0:0.5201:0.0:0.4799	.	39	O14798	TR10C_HUMAN	A	39	ENSP00000349324:V39A	ENSP00000349324:V39A	V	+	2	0	TNFRSF10C	23025233	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.020000	0.12525	-0.133000	0.11537	-0.548000	0.04221	GTG		0.507	TNFRSF10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215134.3			26	47	0	0	0	1	0	26	47					C	22969288	T	C	22969288	3	2	281	1	0	0	0	0	1	0	0	0	16279	1696	59	3	122	3	TNFRSF10C	8	22969288	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	4478987	22969288	123394734	34	30009											
GPR124	25960	broad.mit.edu	37	chr8	37686441	37686441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcagcacagtgcagcCgggcgccttcctgggcctgg	13	15	2	0	rs567572116		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:37686441C>T	ENST00000412232.2	+	3	387	c.374C>T	c.(373-375)cCg>cTg	p.P125L	GPR124_ENST00000315215.7_Missense_Mutation_p.P125L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	125					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)			ACAGTGCAGCCGGGCGCCTTC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		10191	0.0		0.0	False		,,,				2504	0.001					ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(373-375)cCg>cTg		G protein-coupled receptor 124							64	62	62					8																	37686441		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37686441C>T	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.374C>T	8.37:g.37686441C>T	ENSP00000406367:p.Pro125Leu					GPR124_ENST00000412232.2_Missense_Mutation_p.P125L	p.P125L			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		3	737	+			125					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.374C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172690	0.78452	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	T;T;T	0.60424	0.19;0.19;0.19	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81640	-0.0841	10	0.66056	D	0.02	-15.5061	14.7945	0.69868	0.1434:0.8566:0.0:0.0	.	125;125	Q96PE1-2;Q96PE1	.;GP124_HUMAN	L	83;118;125;125	ENSP00000400860:P83L;ENSP00000323508:P125L;ENSP00000406367:P125L	ENSP00000323508:P125L	P	+	2	0	GPR124	37805599	1.000000	0.71417	0.964000	0.40570	0.532000	0.34746	6.533000	0.73829	2.771000	0.95319	0.561000	0.74099	CCG		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			37	65	0	0	0	1	0	37	65					T	37686441	C	T	37686441	3	4	281	1	0	0	0	0	1	0	0	0	6638	652	23	1	363	1	GPR124	8	37686441	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	14717153	37686441	108677581	35	30010											
AIFM2	84883	broad.mit.edu	37	chr10	71883202	71883202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctggttcttcaggtctaTccccactactagcccctgcc	6	17	4	0	rs140958169		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:71883202T>C	ENST00000307864.1	-	3	466	c.253A>G	c.(253-255)Ata>Gta	p.I85V	AIFM2_ENST00000373248.1_Missense_Mutation_p.I85V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	85					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TTCAGGTCTATCCCCACTACT	0.597																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(253-255)Ata>Gta		apoptosis-inducing factor, mitochondrion-associated, 2		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	117	107	111		253,253	2.6	0.6	10	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AIFM2	NM_001198696.1,NM_032797.5	29,29	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign	85/374,85/374	71883202	2,13004	2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71883202T>C	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.253A>G	10.37:g.71883202T>C	ENSP00000312370:p.Ile85Val					AIFM2_ENST00000373248.1_Missense_Mutation_p.I85V	p.I85V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			3	466	-			85					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.253A>G	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330497	0.41297	0.0	2.33E-4	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.50277	0.75;0.75	5.13	2.62	0.31277	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.096470	0.64402	N	0.000002	T	0.33876	0.0878	N	0.13327	0.33	0.33869	D	0.634725	P	0.44521	0.837	P	0.49276	0.605	T	0.39272	-0.9622	10	0.20519	T	0.43	-12.8639	8.2354	0.31622	0.0:0.0736:0.1328:0.7935	.	85	Q9BRQ8	AIFM2_HUMAN	V	85	ENSP00000362345:I85V;ENSP00000312370:I85V	ENSP00000312370:I85V	I	-	1	0	AIFM2	71553208	0.989000	0.36119	0.596000	0.28811	0.531000	0.34715	2.160000	0.42348	0.898000	0.36418	0.459000	0.35465	ATA		0.597	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		5	73	0	0	0	1	0	5	73					C	71883202	T	C	71883202	3	2	281	1	0	0	0	0	1	0	0	0	427	1435	50	3	896	3	AIFM2	10	71883202	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		71883202	63651545	36	30011											
SFTPA1	653509	broad.mit.edu	37	chr10	81373779	81373779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggggagcccgcaggtcgGggaaaagagcagtgtgtgga	20	7	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:81373779G>A	ENST00000398636.3	+	6	795	c.657G>A	c.(655-657)cgG>cgA	p.R219R	SFTPA1_ENST00000419470.2_Silent_p.R234R|SFTPA1_ENST00000372308.3_Silent_p.R219R|SFTPA1_ENST00000428376.2_Silent_p.R219R|SFTPA1_ENST00000372313.5_Silent_p.R160R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	219	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.		R -> W (associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); dbSNP:rs4253527). {ECO:0000269|PubMed:13680361, ECO:0000269|PubMed:19100526, ECO:0000269|PubMed:20693318, ECO:0000269|Ref.5}.		lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	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)			CCGCAGGTCGGGGAAAAGAGC	0.562																																						ENST00000398636.3																			0				endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(655-657)cgG>cgA		surfactant protein A1							178	172	174					10																	81373779		2203	4296	6499	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373779G>A	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.657G>A	10.37:g.81373779G>A						SFTPA1_ENST00000372313.5_Silent_p.R160R|SFTPA1_ENST00000419470.2_Silent_p.R234R|SFTPA1_ENST00000372308.3_Silent_p.R219R|SFTPA1_ENST00000428376.2_Silent_p.R219R	p.R219R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	795	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		219		R -> W (associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); dbSNP:rs4253527).	C-type lectin.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.657G>A	CCDS44445.1																																																																																				0.562	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		88	78	0	0	0	1	0	88	78					A	81373779	G	A	81373779	2	1	281	1	0	0	0	0	0	0	0	1	14189	1219	43	2		2	SFTPA1	10	81373779	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9490577	81373779	54160968	37	30012											
PTEN	5728	broad.mit.edu	37	chr10	89717727	89717727	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagccgttacctgtgtgtgGtgatatcaaagtagagttct	11	7	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:89717727G>C	ENST00000371953.3	+	7	2109	c.752G>C	c.(751-753)gGt>gCt	p.G251A	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	251	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		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.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(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)		CCTGTGTGTGGTGATATCAAA	0.398		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(1)	prostate(16)|central_nervous_system(11)|skin(7)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(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						c.(751-753)gGt>gCt		phosphatase and tensin homolog							122	108	113					10																	89717727		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717727G>C	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.752G>C	10.37:g.89717727G>C	ENSP00000361021:p.Gly251Ala	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.G251A	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	7	2109	+		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)	251		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.752G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919163	0.92249	.	.	ENSG00000171862	ENST00000371953	D	0.96300	-3.97	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.100158	0.64402	D	0.000002	D	0.97876	0.9302	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.58721	0.844	D	0.98208	1.0471	9	.	.	.	-10.5796	18.6161	0.91303	0.0:0.0:1.0:0.0	.	251	P60484	PTEN_HUMAN	A	251	ENSP00000361021:G251A	.	G	+	2	0	PTEN	89707707	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.429000	0.97481	2.380000	0.81148	0.585000	0.79938	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		19	20	0	0	0	1	0	19	20					C	89717727	G	C	89717727	3	2	281	1	0	0	0	0	1	0	0	0	12738	1261	44	4	778	4	PTEN	10	89717727	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8343948	89717727	45817020	38	30013											
PKD2L1	9033	broad.mit.edu	37	chr10	102057297	102057297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtagtagccacctccGctgtagcttgtgagcctgcc	11	14	0	1	rs200290739	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:102057297G>A	ENST00000318222.3	-	5	1180	c.798C>T	c.(796-798)agC>agT	p.S266S	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.S266S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	266					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)		AGCCACCTCCGCTGTAGCTTG	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14345	0.0		0.0	False		,,,				2504	0.0					ENST00000318222.3																			0				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						c.(796-798)agC>agT		polycystic kidney disease 2-like 1		G		1,4405	2.1+/-5.4	0,1,2202	54	49	51		798	-3.2	1	10		51	0,8600		0,0,4300	no	coding-synonymous	PKD2L1	NM_016112.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		266/806	102057297	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057297G>A	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.798C>T	10.37:g.102057297G>A						PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.S266S	p.S266S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1180	-		Colorectal(252;0.117)	266					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.798C>T	CCDS7492.1																																																																																				0.627	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		19	25	0	0	0	1	0	19	25					A	102057297	G	A	102057297	2	1	281	1	0	0	0	0	0	0	0	1	11967	1078	38	1		1	PKD2L1	10	102057297	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	12339570	102057297	33477450	39	30014											
MUC6	4588	broad.mit.edu	37	chr11	1025338	1025338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccccggtgaccgtgtaGtttctgtccgccagcaccac	9	17	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:1025338G>A	ENST00000421673.2	-	23	2879	c.2829C>T	c.(2827-2829)aaC>aaT	p.N943N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	943	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)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCGTGTAGTTTCTGTCCG	0.677																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2827-2829)aaC>aaT		mucin 6, oligomeric mucus/gel-forming							48	56	53					11																	1025338		2045	4202	6247	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025338G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2829C>T	11.37:g.1025338G>A							p.N943N	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	2879	-		all_cancers(49;3.3e-08)|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;0.229)	943			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.2829C>T	CCDS44513.1																																																																																				0.677	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		54	94	0	0	0	1	0	54	94					A	1025338	G	A	1025338	2	1	281	1	0	0	0	0	0	0	0	1	9980	1020	36	2		2	MUC6	11	1025338	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		1025338	133981178	40	30015											
OR8J3	81168	broad.mit.edu	37	chr11	55904779	55904779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccagcaggaggcagagcCgccgagacaccaccaccatg	11	16	0	2	rs373232843		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:55904779C>T	ENST00000301529.1	-	1	415	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139L(1)|p.R139Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473																																						ENST00000301529.1																			2	Substitution - Missense(2)	p.R139L(1)|p.R139Q(1)	kidney(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(415-417)cGg>cAg		olfactory receptor, family 8, subfamily J, member 3		C	GLN/ARG	0,4402		0,0,2201	111	107	109		416	-2.9	0	11		109	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR8J3	NM_001004064.1	43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	139/316	55904779	1,12993	2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904779C>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.416G>A	11.37:g.55904779C>T	ENSP00000301529:p.Arg139Gln						p.R139Q	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	415	-	Esophageal squamous(21;0.00693)		139					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.416G>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417544	0.42918	0.0	1.16E-4	ENSG00000167822	ENST00000301529	T	0.41758	0.99	3.26	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	1.003870	0.08023	N	0.992227	T	0.26521	0.0648	L	0.28458	0.855	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.32981	-0.9886	10	0.12430	T	0.62	.	9.911	0.41406	0.0:0.4758:0.0:0.5242	.	139	Q8NGG0	OR8J3_HUMAN	Q	139	ENSP00000301529:R139Q	ENSP00000301529:R139Q	R	-	2	0	OR8J3	55661355	0.000000	0.05858	0.000000	0.03702	0.705000	0.40729	-1.311000	0.02723	-0.450000	0.07107	0.289000	0.19496	CGG		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		33	78	0	0	0	1	0	33	78					T	55904779	C	T	55904779	3	4	281	1	0	0	0	0	1	0	0	0	11242	652	23	1	533	1	OR8J3	11	55904779	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	54879441	55904779	79101737	41	30016											
HSPA8	3312	broad.mit.edu	37	chr11	122928498	122928498	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accaccagagggaggagctcCaccaccaggaaatcccccag	10	16	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:122928498C>G	ENST00000532636.1	-	9	2004	c.1885G>C	c.(1885-1887)Gga>Cga	p.G629R	HSPA8_ENST00000453788.2_Missense_Mutation_p.G476R|HSPA8_ENST00000533540.1_Missense_Mutation_p.G483R|HSPA8_ENST00000526110.1_Missense_Mutation_p.G610R|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.G393R|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.G629R|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.G629R			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	629					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)		GGAGGAGCTCCACCACCAGGA	0.512																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1885-1887)Gga>Cga		heat shock 70kDa protein 8							101	106	104					11																	122928498		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928498C>G	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.1885G>C	11.37:g.122928498C>G	ENSP00000437125:p.Gly629Arg					HSPA8_ENST00000227378.3_Missense_Mutation_p.G629R|HSPA8_ENST00000453788.2_Missense_Mutation_p.G476R|HSPA8_ENST00000533540.1_Missense_Mutation_p.G483R|HSPA8_ENST00000532636.1_Missense_Mutation_p.G629R|HSPA8_ENST00000534319.1_Missense_Mutation_p.G393R|HSPA8_ENST00000526110.1_Missense_Mutation_p.G610R	p.G629R	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	2161	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	629					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1885G>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666600	0.88251	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T;T	0.03889	5.32;4.74;5.32;4.63;5.32;4.33;5.34;3.77	4.65	4.65	0.58169	.	0.065683	0.64402	D	0.000019	T	0.26702	0.0653	M	0.86805	2.84	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	D;D;D	0.77557	0.953;0.979;0.99	T	0.11397	-1.0589	10	0.66056	D	0.02	-14.1654	17.8802	0.88838	0.0:1.0:0.0:0.0	.	629;476;629	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	R	629;483;629;476;629;393;610;220	ENSP00000437125:G629R;ENSP00000437189:G483R;ENSP00000432083:G629R;ENSP00000404372:G476R;ENSP00000227378:G629R;ENSP00000433316:G393R;ENSP00000433584:G610R;ENSP00000435908:G220R	ENSP00000227378:G629R	G	-	1	0	HSPA8	122433708	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.122000	0.77169	2.285000	0.76669	0.561000	0.74099	GGA		0.512	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			52	99	0	0	0	1	0	52	99					G	122928498	C	G	122928498	3	3	281	1	0	0	0	0	1	0	0	0	7416	603	21	4	59	4	HSPA8	11	122928498	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	67023719	122928498	12078018	42	30017											
OR10G4	390264	broad.mit.edu	37	chr11	123886716	123886716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgccctcctggccacCggcacttggctcagtggctc	13	15	1	0	rs144654389		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:123886716C>T	ENST00000320891.4	+	1	435	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	145						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)		TCCTGGCCACCGGCACTTGGC	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		24221	0.0		0.001	False		,,,				2504	0.0					ENST00000320891.4																			0				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						c.(433-435)acC>acT		olfactory receptor, family 10, subfamily G, member 4							158	159	159					11																	123886716		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886716C>T	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.435C>T	11.37:g.123886716C>T							p.T145T	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	435	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	145					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.435C>T	CCDS31702.1																																																																																				0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		95	182	0	0	0	1	0	95	182					T	123886716	C	T	123886716	2	4	281	1	0	0	0	0	0	0	0	1	10901	639	23	1		1	OR10G4	11	123886716	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	958218	123886716	11119800	43	30018											
ATF7IP	55729	broad.mit.edu	37	chr12	14576907	14576907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcgaaaaacgatgagaGtgagtgatcgtcagcaactt	12	7	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:14576907G>A	ENST00000540793.1	+	1	213	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	ATF7IP_ENST00000543189.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V20M|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000544627.1_Missense_Mutation_p.V28M			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	20					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AACGATGAGAGTGAGTGATCG	0.358																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(82-84)Gtg>Atg		activating transcription factor 7 interacting protein							77	69	72					12																	14576907		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14576907G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.58G>A	12.37:g.14576907G>A	ENSP00000444589:p.Val20Met					ATF7IP_ENST00000543189.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V20M|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V20M	p.V28M			Q6VMQ6	MCAF1_HUMAN			2	402	+			20					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.82G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018773	0.75275	.	.	ENSG00000171681	ENST00000261168;ENST00000545723;ENST00000543189;ENST00000536444;ENST00000542967;ENST00000534828;ENST00000535132;ENST00000544627;ENST00000542991;ENST00000541056;ENST00000539057;ENST00000545769;ENST00000428217;ENST00000396279;ENST00000542514;ENST00000536279;ENST00000542508;ENST00000540793	T;T;T;T;T;T	0.28895	1.95;1.95;1.94;1.95;1.59;1.95	5.44	5.44	0.79542	.	0.363987	0.23175	N	0.051090	T	0.43366	0.1244	L	0.40543	1.245	0.25832	N	0.984157	D;D;D;D;D	0.63880	0.993;0.993;0.986;0.986;0.986	P;P;P;P;P	0.61592	0.891;0.891;0.814;0.814;0.8	T	0.28396	-1.0045	10	0.62326	D	0.03	-2.0529	13.8794	0.63674	0.0733:0.0:0.9267:0.0	.	28;20;20;20;20	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	M	20;20;20;20;20;20;20;28;20;20;20;20;20;20;20;20;20;20	ENSP00000261168:V20M;ENSP00000443179:V20M;ENSP00000445955:V20M;ENSP00000440440:V28M;ENSP00000379575:V20M;ENSP00000444589:V20M	ENSP00000261168:V20M	V	+	1	0	ATF7IP	14468174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.308000	0.51896	2.707000	0.92482	0.563000	0.77884	GTG		0.358	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		20	50	0	0	0	1	0	20	50					A	14576907	G	A	14576907	3	1	281	1	0	0	0	0	1	0	0	0	1087	1029	36	2	60	2	ATF7IP	12	14576907	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		14576907	119274988	44	30019											
ARHGDIB	397	broad.mit.edu	37	chr12	15103604	15103604	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgctgtccagctcatcatCatcatcctcctccacatgtg	5	16	4	0	rs149654565		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:15103604C>T	ENST00000228945.4	-	2	187	c.43G>A	c.(43-45)Gat>Aat	p.D15N	ARHGDIB_ENST00000539131.1_5'Flank|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D15N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D15N	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	15					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|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)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						AGCTCATCATCATCATCCTCC	0.438																																						ENST00000228945.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						c.(43-45)Gat>Aat		Rho GDP dissociation inhibitor (GDI) beta		C	ASN/ASP	1,4405		0,1,2202	155	143	147		43	0.6	0	12	dbSNP_134	147	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARHGDIB	NM_001175.4	23	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	15/202	15103604	3,13003	2203	4300	6503	SO:0001583	missense	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15103604C>T	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"Endogenous ligands"	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.43G>A	12.37:g.15103604C>T	ENSP00000228945:p.Asp15Asn					ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D15N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D15N	p.D15N	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN			2	187	-			15					B5BU79	Missense_Mutation	SNP	ENST00000228945.4	37	c.43G>A	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.386555	0.01194	2.27E-4	2.33E-4	ENSG00000111348	ENST00000228945;ENST00000541644;ENST00000541546;ENST00000545895;ENST00000541380;ENST00000542276	.	.	.	0.603	0.603	0.17541	Immunoglobulin E-set (1);	0.512553	0.20968	N	0.082445	T	0.28566	0.0707	L	0.39898	1.24	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.15723	-1.0427	8	0.33940	T	0.23	-0.6847	.	.	.	.	15	P52566	GDIR2_HUMAN	N	15	.	ENSP00000228945:D15N	D	-	1	0	ARHGDIB	14994871	0.236000	0.23804	0.002000	0.10522	0.103000	0.19146	0.441000	0.21611	0.585000	0.29608	0.591000	0.81541	GAT		0.438	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		39	59	0	0	0	1	0	39	59					T	15103604	C	T	15103604	3	4	281	1	0	0	0	0	1	0	0	0	891	826	29	2	582	2	ARHGDIB	12	15103604	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	526697	15103604	118748291	45	30020											
ABCC9	10060	broad.mit.edu	37	chr12	22001088	22001088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaagatctaccttcGtcttcgtcctccatctgggc	7	12	3	2	rs2291550	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:22001088G>A	ENST00000261201.4	-	23	2861	c.2862C>T	c.(2860-2862)gaC>gaT	p.D954D	ABCC9_ENST00000345162.2_Silent_p.D918D|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.D954D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	954					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)	ATCTACCTTCGTCTTCGTCCT	0.433													G|||	9	0.00179712	0.0008	0.0	5008	,	,		19609	0.0079		0.0	False		,,,				2504	0.0					ENST00000261200.4																			0				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						c.(2860-2862)gaC>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	,	1,4405	2.1+/-5.4	0,1,2202	137	127	131		2862,2862	-1.7	1	12	dbSNP_100	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCC9	NM_005691.2,NM_020297.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	954/1550,954/1550	22001088	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22001088G>A	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.2862C>T	12.37:g.22001088G>A						ABCC9_ENST00000345162.2_Silent_p.D918D|ABCC9_ENST00000261201.4_Silent_p.D954D|RP11-729I10.2_ENST00000539874.1_RNA	p.D954D	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			23	2861	-			954					O60707	Silent	SNP	ENST00000261201.4	37	c.2862C>T	CCDS8694.1																																																																																				0.433	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		24	32	0	0	0	1	0	24	32					A	22001088	G	A	22001088	2	1	281	1	0	0	0	0	0	0	0	1	59	1136	40	1		1	ABCC9	12	22001088	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6897484	22001088	111850807	46	30021											
ACVRL1	94	broad.mit.edu	37	chr12	52309035	52309035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctcagacatgacctccCgcaactcgagcacgcagctg	9	17	1	2	rs148640185		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52309035C>T	ENST00000388922.4	+	7	1082	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R281C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93C	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	267	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)	CATGACCTCCCGCAACTCGAG	0.612																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(841-843)Cgc>Tgc		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	63	55	57		799,799	5.4	1	12	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	ACVRL1	NM_000020.2,NM_001077401.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	267/504,267/504	52309035	1,13005	2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309035C>T	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.799C>T	12.37:g.52309035C>T	ENSP00000373574:p.Arg267Cys					ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93C|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R267C	p.R281C	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	942	+			267			Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.841C>T	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241813	0.79912	2.27E-4	0.0	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93659	-3.26;-3.26;-3.26	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000385	D	0.93776	0.8010	L	0.28504	0.86	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.85130	0.895;0.997	D	0.93560	0.6894	10	0.72032	D	0.01	.	11.9421	0.52907	0.2811:0.7189:0.0:0.0	.	93;267	E7EN07;P37023	.;ACVL1_HUMAN	C	267;267;281;93;93	ENSP00000373574:R267C;ENSP00000447884:R281C;ENSP00000392492:R93C	ENSP00000267008:R267C	R	+	1	0	ACVRL1	50595302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.319000	0.59197	2.824000	0.97209	0.655000	0.94253	CGC		0.612	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			18	62	0	0	0	1	0	18	62					T	52309035	C	T	52309035	3	4	281	1	0	0	0	0	1	0	0	0	225	652	23	1	821	1	ACVRL1	12	52309035	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	30307947	52309035	81542860	47	30022											
KRT83	3889	broad.mit.edu	37	chr12	52714809	52714809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgcttcacgcactgcGcgttggggtctatctccagg	11	15	3	0	rs201909879		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52714809G>A	ENST00000293670.3	-	1	373	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	104	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCACTGCGCGTTGGGGTC	0.627																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(310-312)gCg>gTg		keratin 83							178	161	167					12																	52714809		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52714809G>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.311C>T	12.37:g.52714809G>A	ENSP00000293670:p.Ala104Val						p.A104V	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	373	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		104			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.311C>T	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702237	0.30232	.	.	ENSG00000170523	ENST00000293670	T	0.75154	-0.91	4.69	4.69	0.59074	.	0.000000	0.37437	N	0.002094	T	0.57858	0.2082	L	0.49640	1.575	0.33274	D	0.561452	P	0.41345	0.746	B	0.30495	0.116	T	0.67841	-0.5566	10	0.38643	T	0.18	.	3.6396	0.08162	0.2025:0.0:0.5901:0.2074	.	104	P78385	KRT83_HUMAN	V	104	ENSP00000293670:A104V	ENSP00000293670:A104V	A	-	2	0	KRT83	51001076	0.889000	0.30405	1.000000	0.80357	0.997000	0.91878	4.210000	0.58500	2.588000	0.87417	0.650000	0.86243	GCG		0.627	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		105	180	0	0	0	1	0	105	180					A	52714809	G	A	52714809	3	1	281	1	0	0	0	0	1	0	0	0	8497	1087	38	1	1206	1	KRT83	12	52714809	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	405774	52714809	81137086	48	30023											
SART3	9733	broad.mit.edu	37	chr12	108919286	108919286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtccttcacggtgccaTgagccttacagatttcttct	9	11	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:108919286T>C	ENST00000228284.3	-	17	2705	c.2471A>G	c.(2470-2472)cAt>cGt	p.H824R	FICD_ENST00000546448.1_Intron|SART3_ENST00000431469.2_Missense_Mutation_p.H788R	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	824	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						CACGGTGCCATGAGCCTTACA	0.507									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(2470-2472)cAt>cGt		squamous cell carcinoma antigen recognized by T cells 3							140	118	126					12																	108919286		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108919286T>C	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.2471A>G	12.37:g.108919286T>C	ENSP00000228284:p.His824Arg					SART3_ENST00000431469.2_Missense_Mutation_p.H788R|FICD_ENST00000546448.1_Intron	p.H824R	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			17	2705	-			824			RRM 2.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.2471A>G	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895757	0.91962	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000547397	T;T;T	0.35789	2.37;1.29;1.29	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.093695	0.64402	D	0.000001	T	0.58438	0.2122	M	0.79011	2.435	0.80722	D	1	D;D	0.67145	0.996;0.996	P;D	0.66847	0.894;0.947	T	0.57359	-0.7825	10	0.27785	T	0.31	-27.4222	14.5409	0.67995	0.0:0.0:0.0:1.0	.	788;824	B7ZKM0;Q15020	.;SART3_HUMAN	R	824;788;389;63	ENSP00000228284:H824R;ENSP00000414453:H788R;ENSP00000447875:H63R	ENSP00000228284:H824R	H	-	2	0	SART3	107443416	1.000000	0.71417	0.950000	0.38849	0.987000	0.75469	7.698000	0.84413	2.183000	0.69458	0.533000	0.62120	CAT		0.507	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			22	56	0	0	0	1	0	22	56					C	108919286	T	C	108919286	3	2	281	1	0	0	0	0	1	0	0	0	13847	1464	51	3	432	3	SART3	12	108919286	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	56204477	108919286	24932609	49	30024											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	15	6	0	2	rs121918454		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		A -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.|A -> S (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|A -> T (in JMML). {ECO:0000269|PubMed:12717436}.|A -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		38	Substitution - Missense(38)	p.A72V(35)|p.A72D(3)	haematopoietic_and_lymphoid_tissue(38)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM013417	PTPN11	M	rs121918454	c.(214-216)gCc>gAc		protein tyrosine phosphatase, non-receptor type 11							154	142	146					12																	112888199		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888199C>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.215C>A	12.37:g.112888199C>A	ENSP00000340944:p.Ala72Asp					PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			3	413	+			72		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.215C>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940643	0.92526	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96073	-3.9;-3.9	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	L	0.33624	1.015	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71184	0.938;0.972	D	0.96297	0.9218	10	0.62326	D	0.03	.	14.8021	0.69924	0.0:0.9312:0.0:0.0688	.	72;72	Q06124-2;Q06124-3	.;.	D	72	ENSP00000376376:A72D;ENSP00000340944:A72D	ENSP00000340944:A72D	A	+	2	0	PTPN11	111372582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	1.496000	0.48567	0.650000	0.86243	GCC		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			42	78	1	0	2.95478e-19	1	3.07998e-19	42	78					A	112888199	C	A	112888199	3	1	281	1	0	0	0	0	1	0	0	0	12780	739	26	4	225	4	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3968913	112888199	20963696	50	30025											
MORN3	283385	broad.mit.edu	37	chr12	122091089	122091089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccttcaaacagctggccGtggtccagatggaagaaacg	12	10	1	2	rs200057950		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:122091089G>A	ENST00000355329.3	-	4	710	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	180						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)		ACAGCTGGCCGTGGTCCAGAT	0.607																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(538-540)caC>caT		MORN repeat containing 3							69	59	63					12																	122091089		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122091089G>A	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.540C>T	12.37:g.122091089G>A							p.H180H	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	4	710	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		180					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.540C>T	CCDS31917.1																																																																																				0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		30	70	0	0	0	1	0	30	70					A	122091089	G	A	122091089	2	1	281	1	0	0	0	0	0	0	0	1	9709	1136	40	1		1	MORN3	12	122091089	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9202890	122091089	11760806	51	30026											
FANCM	57697	broad.mit.edu	37	chr14	45623200	45623200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttatgaattattgcagcaAatgggaatgagatcattata	10	3	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr14:45623200A>G	ENST00000267430.5	+	6	1213	c.1128A>G	c.(1126-1128)caA>caG	p.Q376Q	FANCM_ENST00000556036.1_Silent_p.Q376Q|FANCM_ENST00000542564.2_Silent_p.Q350Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	376					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTGCAGCAAATGGGAATGA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1126-1128)caA>caG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							138	141	140					14																	45623200		2203	4299	6502	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45623200A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1128A>G	14.37:g.45623200A>G						FANCM_ENST00000542564.2_Silent_p.Q350Q|FANCM_ENST00000556036.1_Silent_p.Q376Q	p.Q376Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			6	1213	+			376					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.1128A>G	CCDS32070.1																																																																																				0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		29	66	0	0	0	1	0	29	66					G	45623200	A	G	45623200	2	3	281	1	0	0	0	0	0	0	0	1	5671	11	1	3		3	FANCM	14	45623200	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08		45623200	61726340	52	30027											
HEXA	3073	broad.mit.edu	37	chr15	72638890	72638891	+	Frame_Shift_Del	DEL	TA	TA	-													tcaaatgccaggggttccacTatgtagaaatccttccagtc							TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:72638890_72638891delTA	ENST00000268097.5	-	11	1810_1811	c.1307_1308delTA	c.(1306-1308)atafs	p.I436fs	HEXA_ENST00000429918.2_Frame_Shift_Del_p.I263fs|HEXA_ENST00000566304.1_Frame_Shift_Del_p.I447fs|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Frame_Shift_Del_p.I436fs|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	436			I -> V (in dbSNP:rs1800431). {ECO:0000269|PubMed:1532289, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:1833974, ECO:0000269|PubMed:21269460, ECO:0000269|PubMed:2933746, ECO:0000269|PubMed:2952641, ECO:0000269|PubMed:3013851, ECO:0000269|Ref.5}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|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)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGGGTTCCACTATGTAGAAATC	0.579																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(1306-1308)afs		hexosaminidase A (alpha polypeptide)																																				SO:0001589	frameshift_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72638890_72638891delTA	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1307_1308delTA	15.37:g.72638890_72638891delTA	ENSP00000268097:p.Ile436fs					HEXA_ENST00000457859.2_Intron|HEXA_ENST00000429918.2_Frame_Shift_Del_p.I263fs|HEXA_ENST00000566304.1_Frame_Shift_Del_p.I447fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Frame_Shift_Del_p.I436fs|RP11-106M3.3_ENST00000570175.1_RNA	p.I436fs	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			11	1810_1811	-			436		I -> V (in dbSNP:rs1800431).			B4DKE7|E7ENH7|Q53HS8|Q6AI32	Frame_Shift_Del	DEL	ENST00000268097.5	37	c.1307_1308delTA	CCDS10243.1																																																																																				0.579	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		9	257						9	257	---	---	---	---	-	72638891	TA	-	72638890	7	5	281	1	0	1	0	1	0	0	0	0	7073	1512	53	0	297	0	HEXA	15	72638890	Frame_Shift_Del	DEL	TA	TCGA-HT-7860-01A-11D-2395-08		72638890	29892502	53	30028											
HCN4	10021	broad.mit.edu	37	chr15	73616057	73616057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtggtgggtgagggctaTggccacagaagtggtggcag	21	5	0	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:73616057T>C	ENST00000261917.3	-	8	3370	c.2377A>G	c.(2377-2379)Ata>Gta	p.I793V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	793					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)		GTGAGGGCTATGGCCACAGAA	0.697																																						ENST00000261917.3																			0				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						c.(2377-2379)Ata>Gta		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							25	29	27					15																	73616057		2197	4295	6492	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616057T>C	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.2377A>G	15.37:g.73616057T>C	ENSP00000261917:p.Ile793Val						p.I793V	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3370	-			793					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2377A>G	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	T	7.721	0.697227	0.15106	.	.	ENSG00000138622	ENST00000261917	T	0.80393	-1.37	3.45	2.29	0.28610	.	.	.	.	.	T	0.71626	0.3362	L	0.52364	1.645	0.35702	D	0.81573	B	0.26744	0.158	B	0.22880	0.042	T	0.66300	-0.5958	9	0.22706	T	0.39	.	9.7188	0.40291	0.0:0.0:0.1749:0.8251	.	793	Q9Y3Q4	HCN4_HUMAN	V	793	ENSP00000261917:I793V	ENSP00000261917:I793V	I	-	1	0	HCN4	71403110	1.000000	0.71417	0.979000	0.43373	0.777000	0.43975	0.784000	0.26816	0.391000	0.25143	0.254000	0.18369	ATA		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		19	28	0	0	0	1	0	19	28					C	73616057	T	C	73616057	3	2	281	1	0	0	0	0	1	0	0	0	6999	1464	51	3	1238	3	HCN4	15	73616057	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	977167	73616057	28915335	54	30029											
ADAMTS17	170691	broad.mit.edu	37	chr15	100657167	100657167	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcagggcaggttctcgcaGaccgcatgttctacactggc	14	12	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:100657167G>A	ENST00000268070.4	-	13	1878	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	591	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTTCTCGCAGACCGCATGTT	0.627																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(1771-1773)gtC>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							51	41	44					15																	100657167		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100657167G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1773C>T	15.37:g.100657167G>A							p.V591V	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	13	1878	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		591			TSP type-1 1.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.1773C>T	CCDS10383.1																																																																																				0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		18	27	0	0	0	1	0	18	27					A	100657167	G	A	100657167	2	1	281	1	0	0	0	0	0	0	0	1	262	929	33	2		2	ADAMTS17	15	100657167	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	27041110	100657167	1874225	55	30030											
TNRC6A	27327	broad.mit.edu	37	chr16	24817937	24817937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcaaatgatgcaacaatctCgtcaacttgatccaaacctg	6	11	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:24817937C>T	ENST00000395799.3	+	17	4501	c.4372C>T	c.(4372-4374)Cgt>Tgt	p.R1458C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1409C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1458					cellular response to starvation (GO:0009267)|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)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAACAATCTCGTCAACTTGA	0.443																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4372-4374)Cgt>Tgt		trinucleotide repeat containing 6A							147	133	138					16																	24817937		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24817937C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4372C>T	16.37:g.24817937C>T	ENSP00000379144:p.Arg1458Cys					CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1409C	p.R1458C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	17	4501	+			1458					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4372C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.81|18.81	3.702920|3.702920	0.68501|0.68501	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799|ENST00000450465	T;T|.	0.15017|.	2.5;2.46|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.30664|.	0.219;0.271;0.238;0.289|.	B;B;B;B|.	0.22601|.	0.034;0.03;0.04;0.032|.	T|T	0.65364|0.65364	-0.6186|-0.6186	10|6	0.49607|0.11794	T|T	0.09|0.64	-8.6644|-8.6644	14.9398|14.9398	0.70983|0.70983	0.0:0.9325:0.0:0.0675|0.0:0.9325:0.0:0.0675	.|.	125;597;1409;1458|.	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7|.	.;.;.;TNR6A_HUMAN|.	C|L	1409;1458|348	ENSP00000326900:R1409C;ENSP00000379144:R1458C|.	ENSP00000326900:R1409C|ENSP00000404278:S348L	R|S	+|+	1|2	0|0	TNRC6A|TNRC6A	24725438|24725438	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	4.512000|4.512000	0.60469|0.60469	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.443	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		44	71	0	0	0	1	0	44	71					T	24817937	C	T	24817937	3	4	281	1	0	0	0	0	1	0	0	0	16337	884	31	1	4438	1	TNRC6A	16	24817937	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		24817937	65536816	56	30031											
KCTD19	146212	broad.mit.edu	37	chr16	67327473	67327473	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtcctctgcttgctcCagtccttcagggtgccagct	10	15	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:67327473C>T	ENST00000304372.5	-	12	2247	c.2192G>A	c.(2191-2193)tGg>tAg	p.W731*		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	731					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCTTGCTCCAGTCCTTCAG	0.547																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2191-2193)tGg>tAg		potassium channel tetramerization domain containing 19							107	113	111					16																	67327473		2014	4175	6189	SO:0001587	stop_gained	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327473C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2192G>A	16.37:g.67327473C>T	ENSP00000305702:p.Trp731*						p.W731*	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2247	-		Ovarian(137;0.192)	731					B4DZ49|Q8N804	Nonsense_Mutation	SNP	ENST00000304372.5	37	c.2192G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	38	6.784942	0.97837	.	.	ENSG00000168676	ENST00000304372	.	.	.	5.86	4.86	0.63082	.	0.255835	0.28482	N	0.015192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.369	11.4614	0.50213	0.1793:0.8207:0.0:0.0	.	.	.	.	X	731	.	ENSP00000305702:W731X	W	-	2	0	KCTD19	65884974	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.243000	0.43115	2.779000	0.95612	0.563000	0.77884	TGG		0.547	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		13	158	0	0	0	1	0	13	158					T	67327473	C	T	67327473	4	4	281	1	0	0	0	0	0	1	0	0	8106	595	21	2	608	2	KCTD19	16	67327473	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	42509536	67327473	23027280	57	30032											
PKD1L2	114780	broad.mit.edu	37	chr16	81155301	81155301	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggctctgcagggccgCgtgcgtaaaaaaggtgcctg	17	10	1	0	rs543579504		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81155301C>T	ENST00000534142.1	-	0	889				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCAGGGCCGCGTGCGTAAAA	0.597													c|||	1	0.000199681	0.0	0.0	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.001					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							47	59	55					16																	81155301		2025	4155	6180			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81155301C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155301C>T						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	4556	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.597	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			4	14	0	0	0	1	0	4	14					T	81155301	C	T	81155301	1	4	281	0	1	0	0	0	0	0	0	0	11965	768	27	1		1	PKD1L2	16	81155301	RNA	SNP	C	TCGA-HT-7860-01A-11D-2395-08	13827828	81155301	9199452	58	30033											
PKD1L2	114780	broad.mit.edu	37	chr16	81171126	81171126	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagtgcaaagaaagcagCgaatcccagcacctgaaaaa	9	11	0	2	rs371765077		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81171126C>T	ENST00000534142.1	-	0	0				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAAAGCAGCGAATCCCAGC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.0					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2		C	THR/ALA	0,4030		0,0,2015	61	63	63		5635	5.6	0.9	16		63	1,8367		0,1,4183	no	missense	PKD1L2	NM_052892.3	58	0,1,6198	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1879/2460	81171126	1,12397	2015	4184	6199			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81171126C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81171126C>T						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	3690	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.577	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			7	10	0	0	0	1	0	7	10					T	81171126	C	T	81171126	1	4	281	0	1	0	0	0	0	0	0	0	11965	768	27	1		1	PKD1L2	16	81171126	RNA	SNP	C	TCGA-HT-7860-01A-11D-2395-08	15825	81171126	9183627	59	30034											
MYH8	4626	broad.mit.edu	37	chr17	10318643	10318643	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattcctcacagttttgGcattgccaaaggcctccagt	8	12	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:10318643G>C	ENST00000403437.2	-	8	801	c.707C>G	c.(706-708)gCc>gGc	p.A236G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	236	Myosin motor.				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						CACAGTTTTGGCATTGCCAAA	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(706-708)gCc>gGc		myosin, heavy chain 8, skeletal muscle, perinatal							134	137	136					17																	10318643		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10318643G>C		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.707C>G	17.37:g.10318643G>C	ENSP00000384330:p.Ala236Gly					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A236G	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			8	801	-			236			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.707C>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441942	0.83993	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83992	-1.79	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.000000	0.41396	U	0.000883	D	0.93180	0.7828	H	0.97611	4.04	0.80722	D	1	B	0.29646	0.253	P	0.46850	0.529	D	0.94446	0.7663	10	0.87932	D	0	.	17.2389	0.87007	0.0:0.0:1.0:0.0	.	236	P13535	MYH8_HUMAN	G	236	ENSP00000384330:A236G	ENSP00000252173:A236G	A	-	2	0	MYH8	10259368	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.488000	0.97947	2.308000	0.77769	0.591000	0.81541	GCC		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		57	117	0	0	0	1	0	57	117					C	10318643	G	C	10318643	3	2	281	1	0	0	0	0	1	0	0	0	10041	1203	42	4	5238	4	MYH8	17	10318643	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		10318643	70876567	60	30035											
GRAP	10750	broad.mit.edu	37	chr17	18927576	18927576	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatctgccgcttcttggcGatggtggtggtgcggtagaa	16	7	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:18927576G>A	ENST00000284154.5	-	4	1130	c.420C>T	c.(418-420)atC>atT	p.I140I	GRAP_ENST00000573099.1_Intron|GRAP_ENST00000395635.1_Silent_p.I111I	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	140	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					GCTTCTTGGCGATGGTGGTGG	0.622																																						ENST00000284154.5																			0				large_intestine(1)|urinary_tract(1)	2						c.(418-420)atC>atT		GRB2-related adaptor protein							40	31	34					17																	18927576		2203	4297	6500	SO:0001819	synonymous_variant	10750				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity	g.chr17:18927576G>A	U52518	CCDS11202.1	17p11.2	2013-02-14			ENSG00000154016	ENSG00000154016		"SH2 domain containing"	4562	protein-coding gene	gene with protein product		604330				8647802, 8995379	Standard	NM_006613		Approved		uc002guy.3	Q13588	OTTHUMG00000059436	ENST00000284154.5:c.420C>T	17.37:g.18927576G>A						GRAP_ENST00000573099.1_Intron|GRAP_ENST00000395635.1_Silent_p.I111I	p.I140I	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN			4	1130	-	all_cancers(12;0.0183)		140			SH2.			Silent	SNP	ENST00000284154.5	37	c.420C>T	CCDS11202.1																																																																																				0.622	GRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132176.2	NM_006613		6	17	0	0	0	1	0	6	17					A	18927576	G	A	18927576	2	1	281	1	0	0	0	0	0	0	0	1	6753	1048	37	1		1	GRAP	17	18927576	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8608933	18927576	62267634	61	30036											
NF1	4763	broad.mit.edu	37	chr17	29483060	29483064	+	Frame_Shift_Del	DEL	GGAAT	GGAAT	-													gtcagtactgagcacaacaaGgaatgtctaatcaatatttc							TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29483060_29483064delGGAAT	ENST00000358273.4	+	2	503_507	c.120_124delGGAAT	c.(118-126)aaggaatgtfs	p.EC41fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.EC41fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.EC41fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	41					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.?(3)	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)		AGCACAACAAGGAATGTCTAATCAA	0.332			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(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						c.(118-126)aagtfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29483060_29483064delGGAAT		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.120_124delGGAAT	17.37:g.29483060_29483064delGGAAT	ENSP00000351015:p.Glu41fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.KEC40fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.KEC40fs	p.KEC40fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	2	503_507	+		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)	40					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.120_124delGGAAT	CCDS42292.1																																																																																				0.332	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		13	32						13	32	---	---	---	---	-	29483064	GGAAT	-	29483060	7	5	281	1	0	1	0	1	0	0	0	0	10356	991	35	0	126	0	NF1	17	29483060	Frame_Shift_Del	DEL	GGAAT	TCGA-HT-7860-01A-11D-2395-08	10555484	29483060	51712150	62	30037											
NF1	4763	broad.mit.edu	37	chr17	29664446	29664446	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcattacccaaattttactTgctgtttggcattagcaaag	6	9	1	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664446T>A	ENST00000358273.4	+	43	6871	c.6488T>A	c.(6487-6489)tTg>tAg	p.L2163*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L2142*|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2163					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.?(3)	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)		AAATTTTACTTGCTGTTTGGC	0.423			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(6487-6489)tTg>tAg		neurofibromin 1							110	96	101					17																	29664446		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29664446T>A		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.6488T>A	17.37:g.29664446T>A	ENSP00000351015:p.Leu2163*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.L2142*	p.L2163*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	43	6871	+		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)	2163					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.6488T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	49	15.755996	0.99844	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9917	0.80211	0.0:0.0:0.0:1.0	.	.	.	.	X	2163;2142;1808	.	ENSP00000348498:L2142X	L	+	2	0	NF1	26688572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.540000	0.82074	2.222000	0.72286	0.533000	0.62120	TTG		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	36	0	0	0	1	0	20	36					A	29664446	T	A	29664446	4	1	281	1	0	0	0	0	0	1	0	0	10356	1821	63	5	6719	5	NF1	17	29664446	Nonsense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	181386	29664446	51530764	63	30038			1	28		2	2	21	N	T_G	5.814399e-05
NF1	4763	broad.mit.edu	37	chr17	29664466	29664466	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtttggcattagcaaaGtcaagtcagctgctgtcatt	10	8	3	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664466G>C	ENST00000358273.4	+	43	6891	c.6508G>C	c.(6508-6510)Gtc>Ctc	p.V2170L	NF1_ENST00000356175.3_Missense_Mutation_p.V2149L|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2170					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.?(3)	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)		CATTAGCAAAGTCAAGTCAGC	0.443			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(6508-6510)Gtc>Ctc		neurofibromin 1							134	116	122					17																	29664466		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29664466G>C		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.6508G>C	17.37:g.29664466G>C	ENSP00000351015:p.Val2170Leu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.V2149L	p.V2170L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	43	6891	+		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)	2170					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.6508G>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979471	0.92982	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.85339	-1.97;-1.97;-1.97	5.55	5.55	0.83447	Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.76574	2.34	0.80722	D	1	P;D	0.53151	0.902;0.958	D;P	0.64595	0.927;0.867	D	0.89521	0.3778	10	0.32370	T	0.25	.	19.8683	0.96840	0.0:0.0:1.0:0.0	.	2149;2170	P21359-2;P21359	.;NF1_HUMAN	L	2170;2149;1815	ENSP00000351015:V2170L;ENSP00000348498:V2149L;ENSP00000389907:V1815L	ENSP00000348498:V2149L	V	+	1	0	NF1	26688592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	2.753000	0.94483	0.655000	0.94253	GTC		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		26	43	0	0	0	1	0	26	43					C	29664466	G	C	29664466	3	2	281	1	0	0	0	0	1	0	0	0	10356	1029	36	4	6739	4	NF1	17	29664466	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	20	29664466	51530744	64	30039			1	28		2	2	21	N	T_G	5.814399e-05
KIAA1267	284058	broad.mit.edu	37	chr17	44110778	44110780	+	In_Frame_Del	DEL	CTC	CTC	-													caggccattacctcttcattCtcctcatcaggactcccctt					rs551968687	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:44110778_44110780delCTC	ENST00000262419.6	-	12	3183_3185	c.2713_2715delGAG	c.(2713-2715)gagdel	p.E905del	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000572904.1_In_Frame_Del_p.E905del|KANSL1_ENST00000432791.1_In_Frame_Del_p.E905del|KANSL1_ENST00000393476.3_In_Frame_Del_p.E199del|KANSL1_ENST00000574590.1_In_Frame_Del_p.E905del|KANSL1_ENST00000575318.1_In_Frame_Del_p.E841del	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	905	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCTCTTCATTCTCCTCATCAGGA	0.483														10	0.00199681	0.0076	0.0	5008	,	,		22321	0.0		0.0	False		,,,				2504	0.0					ENST00000262419.6																			0											c.(2713-2715)del		KAT8 regulatory NSL complex subunit 1			,,	13,4251		0,13,2119					,,	5.7	1			66	0,8254		0,0,4127	no	coding,coding,coding	KIAA1267	NM_015443.3,NM_001193466.1,NM_001193465.1	,,	0,13,6246	A1A1,A1R,RR		0.0,0.3049,0.1039	,,	,,		13,12505				SO:0001651	inframe_deletion	284058					MLL1 complex	protein binding	g.chr17:44110778_44110780delCTC	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2713_2715delGAG	17.37:g.44110781_44110783delCTC	ENSP00000262419:p.Glu905del					KANSL1_ENST00000575318.1_In_Frame_Del_p.E841del|KANSL1_ENST00000574590.1_In_Frame_Del_p.E905del|KANSL1_ENST00000572904.1_In_Frame_Del_p.E905del|KANSL1_ENST00000432791.1_In_Frame_Del_p.E905del|KANSL1_ENST00000393476.3_In_Frame_Del_p.E199del	p.E905del	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			12	3183_3185	-			905					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	In_Frame_Del	DEL	ENST00000262419.6	37	c.2713_2715delGAG	CCDS11503.1																																																																																				0.483	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		19	69						19	69	---	---	---	---	-	44110780	CTC	-	44110778	7	5	281	1	0	1	0	1	0	0	0	0	8219	912	32	0	618	0	KIAA1267	17	44110778	In_Frame_Del	DEL	CTC	TCGA-HT-7860-01A-11D-2395-08	14446312	44110778	37084432	65	30040											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60052048	60052048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgatgaacttcaagggCgacatcatcgtggtctacgt	12	9	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr18:60052048C>T	ENST00000586569.1	+	10	1670	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	TNFRSF11A_ENST00000269485.7_Silent_p.G227G	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	544					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ACTTCAAGGGCGACATCATCG	0.652																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1630-1632)ggC>ggT		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							44	35	38					18																	60052048		2203	4300	6503	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60052048C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1632C>T	18.37:g.60052048C>T						TNFRSF11A_ENST00000269485.7_Silent_p.G227G	p.G544G	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			10	1670	+		Colorectal(73;0.188)	544					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.1632C>T	CCDS11980.1																																																																																				0.652	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			10	23	0	0	0	1	0	10	23					T	60052048	C	T	60052048	2	4	281	1	0	0	0	0	0	0	0	1	16281	755	27	1		1	TNFRSF11A	18	60052048	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08		60052048	18025200	66	30041											
LMNB2	84823	broad.mit.edu	37	chr19	2433894	2433894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgatgctgacgctacccGaggccgaggcctgctgggcc	14	16	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:2433894G>A	ENST00000582871.1	-	8	1438	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Missense_Mutation_p.S471L	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	451	LTD.|Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). {ECO:0000305}.		lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GACGCTACCCGAGGCCGAGGC	0.667																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1411-1413)tCg>tTg		lamin B2							59	57	58					19																	2433894		2201	4300	6501	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2433894G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1352C>T	19.37:g.2433894G>A	ENSP00000462730:p.Ser451Leu					LMNB2_ENST00000582871.1_Missense_Mutation_p.S451L	p.S471L			Q03252	LMNB2_HUMAN		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)	8	1474	-		Hepatocellular(1079;0.137)	451			Tail.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.1412C>T		.	.	.	.	.	.	.	.	.	.	G	13.93	2.383762	0.42308	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.27	0.743	0.18347	Intermediate filament, C-terminal (1);	0.387129	0.26048	N	0.026656	T	0.32102	0.0818	L	0.42744	1.35	0.09310	N	0.999999	P	0.45768	0.866	P	0.47744	0.556	T	0.14364	-1.0475	9	0.59425	D	0.04	.	5.6338	0.17526	0.1769:0.0:0.6671:0.156	.	451	Q03252	LMNB2_HUMAN	L	451	.	ENSP00000327054:S451L	S	-	2	0	LMNB2	2384894	0.951000	0.32395	0.002000	0.10522	0.756000	0.42949	1.615000	0.36922	-0.035000	0.13691	-0.291000	0.09656	TCG		0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		46	130	0	0	0	1	0	46	130					A	2433894	G	A	2433894	3	1	281	1	0	0	0	0	1	0	0	0	8850	1059	37	1	470	1	LMNB2	19	2433894	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2433894	56695089	67	30042											
KHSRP	8570	broad.mit.edu	37	chr19	6416895	6416895	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctgggggaccactcTgcaagacaagaggaggagga	17	8	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:6416895T>G	ENST00000398148.3	-	13	1275		c.e13-2		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						GGGACCACTCTGCAAGACAAG	0.687																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.e13-2		KH-type splicing regulatory protein							20	24	23					19																	6416895		1945	4122	6067	SO:0001630	splice_region_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416895T>G	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.1183-2A>C	19.37:g.6416895T>G								NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			13	1275	-								O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Splice_Site	SNP	ENST00000398148.3	37		CCDS45936.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750859	0.49257	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	.	.	.	5.53	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7733	0.40603	0.0:0.0837:0.0:0.9162	.	.	.	.	.	-1	.	.	.	-	.	.	KHSRP	6367895	1.000000	0.71417	0.978000	0.43139	0.531000	0.34715	4.604000	0.61112	0.939000	0.37446	0.533000	0.62120	.		0.687	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		Intron	24	62	0	0	0	1	0	24	62					G	6416895	T	G	6416895	5	3	281	1	0	0	0	0	0	0	1	0	8151	1594	55	5	986	5	KHSRP	19	6416895	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	3983001	6416895	52712088	68	30043											
STXBP2	6813	broad.mit.edu	37	chr19	7705819	7705819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcagtgagctaggccGctctcgtctggcaaaggtgg	14	11	3	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:7705819G>A	ENST00000221283.5	+	6	390	c.359G>A	c.(358-360)cGc>cAc	p.R120H	STXBP2_ENST00000441779.2_Missense_Mutation_p.R131H|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Missense_Mutation_p.R117H	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	120					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGCTAGGCCGCTCTCGTCTG	0.662																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(391-393)cGc>cAc		syntaxin binding protein 2							85	81	82					19																	7705819		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7705819G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.359G>A	19.37:g.7705819G>A	ENSP00000221283:p.Arg120His					STXBP2_ENST00000414284.2_Missense_Mutation_p.R117H|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000221283.5_Missense_Mutation_p.R120H	p.R131H	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			6	429	+			120					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.392G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248345	0.22880	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902;ENST00000320400	T;T;T	0.80393	-1.37;-1.37;-1.37	4.58	1.1	0.20463	.	0.264028	0.34853	N	0.003622	T	0.69860	0.3158	L	0.53249	1.67	0.30270	N	0.792329	B;B;B	0.28900	0.227;0.19;0.064	B;B;B	0.24701	0.055;0.022;0.037	T	0.65833	-0.6072	10	0.62326	D	0.03	-12.0825	4.2177	0.10542	0.2861:0.1704:0.5435:0.0	.	131;117;120	E7EQD5;Q15833-2;Q15833	.;.;STXB2_HUMAN	H	120;117;131;120;310	ENSP00000221283:R120H;ENSP00000409471:R117H;ENSP00000413606:R131H	ENSP00000221283:R120H	R	+	2	0	STXBP2	7611819	0.999000	0.42202	0.951000	0.38953	0.142000	0.21351	3.475000	0.53136	0.554000	0.29061	-0.148000	0.13756	CGC		0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		47	159	0	0	0	1	0	47	159					A	7705819	G	A	7705819	3	1	281	1	0	0	0	0	1	0	0	0	15352	1087	38	1	381	1	STXBP2	19	7705819	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1288924	7705819	51423164	69	30044											
MUC16	94025	broad.mit.edu	37	chr19	9063480	9063480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagatgctctctggtaatGtggaggaaacaggagaaggt	15	4	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9063480G>A	ENST00000397910.4	-	3	24169	c.23966C>T	c.(23965-23967)aCa>aTa	p.T7989I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7991	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.T7989R(2)|p.T3622R(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						CTCTGGTAATGTGGAGGAAAC	0.468																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.T7989R(2)|p.T3622R(1)	lung(3)	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						c.(23965-23967)aCa>aTa		mucin 16, cell surface associated							92	88	89					19																	9063480		2004	4176	6180	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063480G>A	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.23966C>T	19.37:g.9063480G>A	ENSP00000381008:p.Thr7989Ile						p.T7989I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24169	-			7991			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23966C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.613	-0.079149	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.28069	1.63	2.62	-1.11	0.09840	.	.	.	.	.	T	0.29061	0.0722	M	0.61703	1.905	.	.	.	B	0.27594	0.182	B	0.35607	0.206	T	0.46048	-0.9219	8	0.87932	D	0	.	2.1371	0.03765	0.3281:0.0:0.4213:0.2506	.	7989	B5ME49	.	I	7989	ENSP00000381008:T7989I	ENSP00000381008:T7989I	T	-	2	0	MUC16	8924480	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.012000	0.12699	-0.146000	0.11274	-0.362000	0.07510	ACA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	53	0	0	0	1	0	21	53					A	9063480	G	A	9063480	3	1	281	1	0	0	0	0	1	0	0	0	9973	1377	48	2	19885	2	MUC16	19	9063480	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1357661	9063480	50065503	70	30045											
MUC16	94025	broad.mit.edu	37	chr19	9065959	9065959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttgccagtggtcaGtctctcatctgaagtgtggc	13	10	4	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9065959G>T	ENST00000397910.4	-	3	21690	c.21487C>A	c.(21487-21489)Ctg>Atg	p.L7163M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7165	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)				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						CCAGTGGTCAGTCTCTCATCT	0.512																																						ENST00000397910.4																			0				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						c.(21487-21489)Ctg>Atg		mucin 16, cell surface associated							188	173	178					19																	9065959		2096	4229	6325	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065959G>T	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.21487C>A	19.37:g.9065959G>T	ENSP00000381008:p.Leu7163Met						p.L7163M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21690	-			7165			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21487C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.699	-0.271425	0.05716	.	.	ENSG00000181143	ENST00000397910	T	0.26957	1.7	2.39	0.0656	0.14357	.	.	.	.	.	T	0.20820	0.0501	L	0.55481	1.735	.	.	.	B	0.14438	0.01	B	0.18263	0.021	T	0.29610	-1.0006	8	0.87932	D	0	.	2.8495	0.05553	0.173:0.0:0.5085:0.3185	.	7163	B5ME49	.	M	7163	ENSP00000381008:L7163M	ENSP00000381008:L7163M	L	-	1	2	MUC16	8926959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.285000	0.08410	0.071000	0.16664	0.394000	0.25966	CTG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		51	109	1	0	4.44712e-29	1	4.79821e-29	51	109					T	9065959	G	T	9065959	3	4	281	1	0	0	0	0	1	0	0	0	9973	1020	36	4	22364	4	MUC16	19	9065959	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2479	9065959	50063024	71	30046											
AP1M2	10053	broad.mit.edu	37	chr19	10687903	10687903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaatactccaaatcacgaCgtttctctccggcacatact	4	14	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:10687903C>T	ENST00000250244.6	-	9	1100	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	AP1M2_ENST00000590923.1_Missense_Mutation_p.V342I	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	340	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|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)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAAATCACGACGTTTCTCTCC	0.597																																						ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(1024-1026)Gtc>Atc		adaptor-related protein complex 1, mu 2 subunit							48	46	46					19																	10687903		1958	4154	6112	SO:0001583	missense	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10687903C>T	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.1018G>A	19.37:g.10687903C>T	ENSP00000250244:p.Val340Ile					AP1M2_ENST00000250244.6_Missense_Mutation_p.V340I	p.V342I			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		9	1107	-			340			MHD.		B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	c.1024G>A	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	c	8.991	0.977710	0.18812	.	.	ENSG00000129354	ENST00000250244	T	0.20200	2.09	5.24	1.8	0.24995	Clathrin adaptor, mu subunit, C-terminal (3);	0.506841	0.20514	N	0.090827	T	0.12732	0.0309	L	0.31804	0.96	0.27565	N	0.950078	B;P	0.35456	0.084;0.502	B;B	0.29663	0.015;0.105	T	0.11567	-1.0582	10	0.52906	T	0.07	-15.1146	8.784	0.34809	0.0:0.7274:0.0:0.2726	.	342;340	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	I	340	ENSP00000250244:V340I	ENSP00000250244:V340I	V	-	1	0	AP1M2	10548903	0.000000	0.05858	0.056000	0.19401	0.080000	0.17528	0.122000	0.15687	0.517000	0.28361	0.555000	0.69702	GTC		0.597	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			6	29	0	0	0	1	0	6	29					T	10687903	C	T	10687903	3	4	281	1	0	0	0	0	1	0	0	0	735	536	19	1	269	1	AP1M2	19	10687903	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1621944	10687903	48441080	72	30047											
MAST1	22983	broad.mit.edu	37	chr19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagcccgtggaaatcCgccagttctcttcctgctct	11	13	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:12977541C>T	ENST00000251472.4	+	18	2143	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2104-2106)Cgc>Tgc		microtubule associated serine/threonine kinase 1							86	57	67					19																	12977541		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977541C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2104C>T	19.37:g.12977541C>T	ENSP00000251472:p.Arg702Cys						p.R702C	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			18	2143	+			702			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2104C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183731	0.78677	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.25085	1.82	4.84	4.84	0.62591	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.162179	0.41097	D	0.000952	T	0.47637	0.1456	M	0.79805	2.47	0.50467	D	0.999876	D	0.89917	1.0	P	0.62184	0.899	T	0.49925	-0.8887	10	0.56958	D	0.05	-28.4494	10.9883	0.47534	0.1866:0.8134:0.0:0.0	.	702	Q9Y2H9	MAST1_HUMAN	C	702	ENSP00000251472:R702C	ENSP00000251472:R702C	R	+	1	0	MAST1	12838541	0.012000	0.17670	1.000000	0.80357	0.997000	0.91878	0.222000	0.17699	2.405000	0.81733	0.557000	0.71058	CGC		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		12	29	0	0	0	1	0	12	29					T	12977541	C	T	12977541	3	4	281	1	0	0	0	0	1	0	0	0	9324	652	23	1	2174	1	MAST1	19	12977541	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	2289638	12977541	46151442	73	30048											
MED26	9441	broad.mit.edu	37	chr19	16687579	16687579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccctgccttgcagccCggccccgccagccgctggtg	13	19	0	0	rs199699902	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:16687579C>T	ENST00000263390.3	-	3	1324	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Silent_p.P362P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	354					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCTTGCAGCCCGGCCCCGCCA	0.706													C|||	2	0.000399361	0.0	0.0029	5008	,	,		11105	0.0		0.0	False		,,,				2504	0.0					ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1060-1062)ccG>ccA		mediator complex subunit 26							10	11	11					19																	16687579		2196	4287	6483	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687579C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1062G>A	19.37:g.16687579C>T						CTD-3222D19.2_ENST00000409035.1_Silent_p.P362P	p.P354P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1324	-			354					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.1062G>A	CCDS12347.1																																																																																				0.706	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		13	25	0	0	0	1	0	13	25					T	16687579	C	T	16687579	2	4	281	1	0	0	0	0	0	0	0	1	9444	639	23	1		1	MED26	19	16687579	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3710038	16687579	42441404	74	30049											
ACTN4	81	broad.mit.edu	37	chr19	39212280	39212280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgagagcgacctggctgCgcaccaggaccgcgtggagc	15	14	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:39212280C>T	ENST00000252699.2	+	12	1470	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	ACTN4_ENST00000390009.3_Missense_Mutation_p.A246V|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	465					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCTGGCTGCGCACCAGGAC	0.617																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(1393-1395)gCg>gTg		actinin, alpha 4							107	82	90					19																	39212280		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39212280C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1394C>T	19.37:g.39212280C>T	ENSP00000252699:p.Ala465Val					ACTN4_ENST00000390009.3_Missense_Mutation_p.A246V|ACTN4_ENST00000424234.2_Intron	p.A465V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	1470	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		465					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1394C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288827	0.95517	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.50001	0.76;0.76	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.72112	0.3420	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.78314	0.991;0.869	T	0.78904	-0.2020	10	0.87932	D	0	.	15.8417	0.78852	0.0:1.0:0.0:0.0	.	465;465	E7EV83;O43707	.;ACTN4_HUMAN	V	465;465;246	ENSP00000252699:A465V;ENSP00000439497:A246V	ENSP00000252699:A465V	A	+	2	0	ACTN4	43904120	1.000000	0.71417	0.822000	0.32727	0.963000	0.63663	7.651000	0.83577	2.340000	0.79590	0.462000	0.41574	GCG		0.617	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			29	90	0	0	0	1	0	29	90					T	39212280	C	T	39212280	3	4	281	1	0	0	0	0	1	0	0	0	207	768	27	1	1440	1	ACTN4	19	39212280	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	22524701	39212280	19916703	75	30050											
IRGC	56269	broad.mit.edu	37	chr19	44222962	44222962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgaggaccctggcgcGgctctcacgggcgtcatgga	17	13	2	0	rs571682513		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:44222962G>A	ENST00000244314.5	+	2	451	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	84	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.A84A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACCCTGGCGCGGCTCTCACGG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14655	0.0		0.001	False		,,,				2504	0.0				Colon(189;350 2037 11447 13433 38914)	ENST00000244314.5																			1	Substitution - coding silent(1)	p.A84A(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25						c.(250-252)gcG>gcA		immunity-related GTPase family, cinema							39	40	39					19																	44222962		2203	4298	6501	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222962G>A	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.252G>A	19.37:g.44222962G>A							p.A84A	NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN			2	451	+		Prostate(69;0.0435)	84					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.252G>A	CCDS12629.1																																																																																				0.682	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		44	152	0	0	0	1	0	44	152					A	44222962	G	A	44222962	2	1	281	1	0	0	0	0	0	0	0	1	7838	1103	39	1		1	IRGC	19	44222962	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5010682	44222962	14906021	76	30051											
RUVBL2	10856	broad.mit.edu	37	chr19	49518835	49518835	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctccccctccagggtacaGaagtgcaggtggatgacatc	11	14	0	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:49518835G>A	ENST00000595090.1	+	14	1722	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	RUVBL2_ENST00000601968.1_Silent_p.Q331Q|CTB-60B18.10_ENST00000600007.1_lincRNA|RUVBL2_ENST00000413176.2_Missense_Mutation_p.E375K	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	420					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGGGTACAGAAGTGCAGGT	0.602																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(1123-1125)Gaa>Aaa		RuvB-like AAA ATPase 2							75	81	79					19																	49518835		2110	4226	6336	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49518835G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1258G>A	19.37:g.49518835G>A	ENSP00000473172:p.Glu420Lys					RUVBL2_ENST00000595090.1_Missense_Mutation_p.E420K|RUVBL2_ENST00000601968.1_Silent_p.Q331Q	p.E375K			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	14	2271	+		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)	420					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.1123G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302970	0.60195	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.44881	0.91	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	M	0.63169	1.94	0.80722	D	1	B	0.17038	0.02	B	0.09377	0.004	T	0.25433	-1.0132	10	0.33141	T	0.24	-36.6508	16.4412	0.83901	0.0:0.0:1.0:0.0	.	420	Q9Y230	RUVB2_HUMAN	K	420;375	ENSP00000413890:E375K	ENSP00000221413:E420K	E	+	1	0	RUVBL2	54210647	1.000000	0.71417	0.969000	0.41365	0.940000	0.58332	8.731000	0.91529	2.550000	0.86006	0.561000	0.74099	GAA		0.602	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			40	109	0	0	0	1	0	40	109					A	49518835	G	A	49518835	3	1	281	1	0	0	0	0	1	0	0	0	13753	943	33	2	1312	2	RUVBL2	19	49518835	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5295873	49518835	9610148	77	30052											
MYBPC2	4606	broad.mit.edu	37	chr19	50939931	50939931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggaccgtgggtattacCgcctcgaggtcaaagccaag	15	10	1	0	rs369957056		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:50939931C>T	ENST00000357701.5	+	5	454	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	135	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)		TGGGTATTACCGCCTCGAGGT	0.612																																						ENST00000357701.5																			0				breast(1)	1						c.(403-405)Cgc>Tgc		myosin binding protein C, fast type		C	CYS/ARG	0,4108		0,0,2054	107	107	107		403	3.2	1	19		107	1,8339		0,1,4169	no	missense	MYBPC2	NM_004533.3	180	0,1,6223	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	135/1142	50939931	1,12447	2054	4170	6224	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939931C>T		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.403C>T	19.37:g.50939931C>T	ENSP00000350332:p.Arg135Cys						p.R135C	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	5	454	+		all_neural(266;0.057)	135			Ig-like C2-type 1.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.403C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.685151	0.68157	0.0	1.2E-4	ENSG00000086967	ENST00000357701	T	0.44482	0.92	3.24	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.29660	U	0.011540	T	0.63082	0.2481	M	0.82517	2.595	0.58432	D	0.999997	D	0.89917	1.0	D	0.76071	0.987	T	0.67776	-0.5583	10	0.87932	D	0	.	9.8626	0.41123	0.2054:0.7945:0.0:0.0	.	135	Q14324	MYPC2_HUMAN	C	135	ENSP00000350332:R135C	ENSP00000350332:R135C	R	+	1	0	MYBPC2	55631743	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	3.005000	0.49521	2.142000	0.66516	0.450000	0.29827	CGC		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		42	146	0	0	0	1	0	42	146					T	50939931	C	T	50939931	3	4	281	1	0	0	0	0	1	0	0	0	10012	652	23	1	421	1	MYBPC2	19	50939931	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1421096	50939931	8189052	78	30053											
LILRA6	79168	broad.mit.edu	37	chr19	54746595	54746595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggctgtgagggcgggCgtcatggcgtctccttccgg	18	11	2	1	rs369456930		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:54746595C>T	ENST00000396365.2	-	1	45	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRA6_ENST00000245621.5_Silent_p.T2T|LILRA6_ENST00000270464.5_Silent_p.T2T|LILRA6_ENST00000419410.2_Silent_p.T2T|LILRA6_ENST00000440558.2_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	2					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(4-6)acG>acA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6		G		1,4283		0,1,2141	68	60	63		6	-0.5	0	19		63	1,8525		0,1,4262	no	coding-synonymous	LILRA6	NM_024318.2		0,2,6403	TT,TC,CC		0.0117,0.0233,0.0156		2/482	54746595	2,12808	2142	4263	6405	SO:0001819	synonymous_variant	79168							g.chr19:54746595C>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.6G>A	19.37:g.54746595C>T						LILRA6_ENST00000396365.2_Silent_p.T2T|LILRA6_ENST00000419410.2_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T|LILRA6_ENST00000245621.5_Silent_p.T2T|LILRA6_ENST00000270464.5_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T	p.T2T						GBM - Glioblastoma multiforme(193;0.105)	1	54	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.6G>A	CCDS42610.1																																																																																				0.647	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		13	130	0	0	0	1	0	13	130					T	54746595	C	T	54746595	2	4	281	1	0	0	0	0	0	0	0	1	8789	755	27	1		1	LILRA6	19	54746595	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3806664	54746595	4382388	79	30054											
NLRP5	126206	broad.mit.edu	37	chr19	56539531	56539531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcctcgtgagcgaagaCgtaaggaggccactggaggt	16	8	0	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:56539531C>T	ENST00000390649.3	+	7	1932	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	644					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)		TGAGCGAAGACGTAAGGAGGC	0.552																																						ENST00000390649.3																			0				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						c.(1930-1932)gaC>gaT		NLR family, pyrin domain containing 5							61	63	62					19																	56539531		1976	4149	6125	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539531C>T	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.1932C>T	19.37:g.56539531C>T							p.D644D	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1932	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	644					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1932C>T	CCDS12938.1																																																																																				0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		37	114	0	0	0	1	0	37	114					T	56539531	C	T	56539531	2	4	281	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56539531	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1792936	56539531	2589452	80	30055											
C20orf185	359710	broad.mit.edu	37	chr20	31654682	31654682	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagctttgctccctgAggtgagtgacgctctcatgg	13	12	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:31654682A>G	ENST00000375494.3	+	9	977	c.977A>G	c.(976-978)gAg>gGg	p.E326G		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	326					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTGCTCCCTGAGGTGAGTGAC	0.522																																						ENST00000375494.3																			0											c.e9+1		BPI fold containing family B, member 3							180	142	155					20																	31654682		2203	4300	6503	SO:0001630	splice_region_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31654682A>G	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.978+1A>G	20.37:g.31654682A>G							p.E326_splice	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			9	977	+			326					Q5TDX7	Splice_Site	SNP	ENST00000375494.3	37	c.978_splice	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456695	0.63401	.	.	ENSG00000186190	ENST00000375494	T	0.09445	2.98	5.45	3.1	0.35709	.	0.212620	0.33057	N	0.005334	T	0.12646	0.0307	M	0.72894	2.215	0.33807	D	0.627428	B	0.17465	0.022	B	0.19946	0.027	T	0.06303	-1.0834	10	0.72032	D	0.01	-27.5709	5.5934	0.17313	0.7393:0.172:0.0888:0.0	.	326	P59826	BPIB3_HUMAN	G	326	ENSP00000364643:E326G	ENSP00000364643:E326G	E	+	2	0	BPIFB3	31118343	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	1.625000	0.37029	1.092000	0.41356	0.459000	0.35465	GAG		0.522	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	Missense_Mutation	27	105	0	0	0	1	0	27	105					G	31654682	A	G	31654682	5	3	281	1	0	0	0	0	0	0	1	0	2097	318	11	3	1011	3	C20orf185	20	31654682	Splice_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08		31654682	31370838	81	30056											
PFDN4	5203	broad.mit.edu	37	chr20	52831957	52831957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcaagaagaaacgcAagaaatgttagaagaagcaa	8	7	1	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:52831957A>C	ENST00000371419.2	+	3	505	c.251A>C	c.(250-252)cAa>cCa	p.Q84P	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	84					'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)			GAAGAAACGCAAGAAATGTTA	0.313																																						ENST00000371419.2																			0				endometrium(1)|kidney(2)	3						c.(250-252)cAa>cCa		prefoldin subunit 4							84	79	81					20																	52831957		2203	4300	6503	SO:0001583	missense	5203				'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	g.chr20:52831957A>C	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.251A>C	20.37:g.52831957A>C	ENSP00000360473:p.Gln84Pro					PFDN4_ENST00000487129.1_3'UTR	p.Q84P	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		3	505	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		84					Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	c.251A>C	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167820	0.78339	.	.	ENSG00000101132	ENST00000371419	T	0.44881	0.91	5.27	5.27	0.74061	Prefoldin beta-like (1);Prefoldin (1);	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.86502	2.82	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	T	0.70114	-0.4961	10	0.41790	T	0.15	-18.6702	14.6758	0.68978	1.0:0.0:0.0:0.0	.	84	Q9NQP4	PFD4_HUMAN	P	84	ENSP00000360473:Q84P	ENSP00000360473:Q84P	Q	+	2	0	PFDN4	52265364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.554000	0.90689	2.122000	0.65172	0.533000	0.62120	CAA		0.313	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623		12	47	0	0	0	1	0	12	47					C	52831957	A	C	52831957	3	2	281	1	0	0	0	0	1	0	0	0	11757	130	5	5	261	5	PFDN4	20	52831957	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08	21177275	52831957	10193563	82	30057											
C20orf108	116151	broad.mit.edu	37	chr20	54941327	54941327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggattttttaaacctcCagctgcaaaaccttaatgaa	7	8	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:54941327C>T	ENST00000371384.3	+	3	654	c.563C>T	c.(562-564)cCa>cTa	p.P188L		NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B	188	DUF1279.					integral component of membrane (GO:0016021)											TTTAAACCTCCAGCTGCAAAA	0.398																																						ENST00000371384.3																			0											c.(562-564)cCa>cTa		family with sequence similarity 210, member B							98	98	98					20																	54941327		2203	4300	6503	SO:0001583	missense	116151					integral to membrane		g.chr20:54941327C>T	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793	ENST00000371384.3:c.563C>T	20.37:g.54941327C>T	ENSP00000360437:p.Pro188Leu						p.P188L	NM_080821.2	NP_543011.2	Q96KR6	CT108_HUMAN			3	654	+			188			DUF1279.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.563C>T	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175309	0.94807	.	.	ENSG00000124098	ENST00000371384	T	0.36699	1.24	5.56	5.56	0.83823	.	0.123452	0.56097	D	0.000038	T	0.62829	0.2460	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.63703	-0.6577	10	0.54805	T	0.06	-4.1184	19.5255	0.95203	0.0:1.0:0.0:0.0	.	188	Q96KR6	CT108_HUMAN	L	188	ENSP00000360437:P188L	ENSP00000360437:P188L	P	+	2	0	C20orf108	54374734	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.658000	0.68003	2.595000	0.87683	0.650000	0.86243	CCA		0.398	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		23	90	0	0	0	1	0	23	90					T	54941327	C	T	54941327	3	4	281	1	0	0	0	0	1	0	0	0	2078	594	21	2	573	2	C20orf108	20	54941327	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	2109370	54941327	8084193	83	30058											
HRH3	11255	broad.mit.edu	37	chr20	60793682	60793682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcggcctgtcagcacGtagggtacatacagtgggat	14	10	1	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:60793682G>A	ENST00000340177.5	-	2	566	c.282C>T	c.(280-282)taC>taT	p.Y94Y	HRH3_ENST00000317393.6_Silent_p.Y94Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	94					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)	CTGTCAGCACGTAGGGTACAT	0.632																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(280-282)taC>taT		histamine receptor H3	Histamine Phosphate(DB00667)						46	37	40					20																	60793682		2202	4300	6502	SO:0001819	synonymous_variant	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60793682G>A	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.282C>T	20.37:g.60793682G>A						HRH3_ENST00000317393.6_Silent_p.Y94Y	p.Y94Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		2	566	-	Breast(26;7.76e-09)		94					Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	ENST00000340177.5	37	c.282C>T	CCDS13493.1																																																																																				0.632	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		14	50	0	0	0	1	0	14	50					A	60793682	G	A	60793682	2	1	281	1	0	0	0	0	0	0	0	1	7357	1140	40	1		1	HRH3	20	60793682	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5852355	60793682	2231838	84	30059											
TMPRSS3	64699	broad.mit.edu	37	chr21	43810090	43810090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcccaatgacgatgaTtggaaaaaacttcaatggca	8	7	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr21:43810090T>C	ENST00000291532.3	-	3	1106	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.I135V|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.I49V|TMPRSS3_ENST00000474596.1_5'Flank|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.I51V|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.I51V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	51				LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012). {ECO:0000305}.	cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATGACGATGATTGGAAAAAAC	0.433																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(151-153)Atc>Gtc		transmembrane protease, serine 3							103	90	95					21																	43810090		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43810090T>C	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.151A>G	21.37:g.43810090T>C	ENSP00000291532:p.Ile51Val					TMPRSS3_ENST00000380399.1_Missense_Mutation_p.I135V|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.I51V|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.I49V|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.I51V	p.I51V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			3	1106	-			51	LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012).				D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.151A>G	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	T	4.738	0.137172	0.09032	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88431	-2.34;-2.28;-2.36;-2.36;-2.38	5.08	-0.0207	0.13955	.	0.424990	0.22466	N	0.059687	T	0.72162	0.3426	N	0.12182	0.205	0.19575	N	0.999961	B;B;B	0.20887	0.049;0.004;0.002	B;B;B	0.17433	0.018;0.006;0.003	T	0.57087	-0.7871	9	.	.	.	.	4.3205	0.11015	0.1905:0.3502:0.0:0.4593	.	51;51;51	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	V	51;51;49;135;51	ENSP00000291532:I51V;ENSP00000411013:I51V;ENSP00000381442:I49V;ENSP00000369762:I135V;ENSP00000381434:I51V	.	I	-	1	0	TMPRSS3	42683159	0.641000	0.27251	0.118000	0.21660	0.187000	0.23431	0.613000	0.24299	-0.014000	0.14175	0.459000	0.35465	ATC		0.433	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			28	54	0	0	0	1	0	28	54					C	43810090	T	C	43810090	3	2	281	1	0	0	0	0	1	0	0	0	16245	1493	52	3	1340	3	TMPRSS3	21	43810090	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		43810090	4319805	85	30060											
ARSD	414	broad.mit.edu	37	chrX	2836028	2836028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccggtgactgctctcGcggagacagagaagaaaccg	13	12	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:2836028G>A	ENST00000381154.1	-	5	755	c.680C>T	c.(679-681)gCg>gTg	p.A227V	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	227					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)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		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)				GACTGCTCTCGCGGAGACAGA	0.622																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(679-681)gCg>gTg		arylsulfatase D							19	23	22					X																	2836028		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2836028G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.680C>T	X.37:g.2836028G>A	ENSP00000370546:p.Ala227Val					ARSD_ENST00000217890.6_5'UTR	p.A227V	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			5	755	-		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)	227					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.680C>T	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	6.938	0.542850	0.13250	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93547	-3.24	3.47	0.53	0.17102	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.531871	0.16718	U	0.202361	D	0.84665	0.5522	L	0.27053	0.805	0.09310	N	1	P;B	0.38420	0.63;0.107	B;B	0.32805	0.153;0.069	T	0.74028	-0.3796	10	0.36615	T	0.2	.	7.9101	0.29785	0.0:0.6096:0.2989:0.0915	.	227;227	E9PAW5;P51689	.;ARSD_HUMAN	V	227	ENSP00000370546:A227V	ENSP00000217890:A227V	A	-	2	0	ARSD	2846028	0.752000	0.28338	0.000000	0.03702	0.002000	0.02628	1.798000	0.38814	-0.348000	0.08286	-1.853000	0.00566	GCG		0.622	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			9	23	0	0	0	1	0	9	23					A	2836028	G	A	2836028	3	1	281	1	0	0	0	0	1	0	0	0	989	1087	38	1	1278	1	ARSD	23	2836028	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2836028	152434532	86	30061											
MAGEB2	4113	broad.mit.edu	37	chrX	30237647	30237647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaagatgaagagaaagCcggagtctgagccagagttg	14	5	1	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:30237647C>T	ENST00000378988.4	+	2	1051	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	317										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAAGAGAAAGCCGGAGTCTGA	0.498																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(949-951)gCc>gTc		melanoma antigen family B, 2							35	39	38					X																	30237647		2201	4299	6500	SO:0001583	missense	4113						protein binding	g.chrX:30237647C>T	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.950C>T	X.37:g.30237647C>T	ENSP00000368273:p.Ala317Val						p.A317V	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	1051	+			317					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.950C>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439431	0.25900	.	.	ENSG00000099399	ENST00000378988	T	0.01685	4.69	3.27	0.762	0.18454	.	0.976288	0.08383	N	0.954275	T	0.02494	0.0076	L	0.60012	1.86	0.09310	N	1	P	0.42735	0.788	B	0.37239	0.244	T	0.45366	-0.9266	10	0.66056	D	0.02	.	7.1447	0.25577	0.5096:0.4904:0.0:0.0	.	317	O15479	MAGB2_HUMAN	V	317	ENSP00000368273:A317V	ENSP00000368273:A317V	A	+	2	0	MAGEB2	30147568	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	-0.450000	0.06803	0.059000	0.16252	-0.568000	0.04159	GCC		0.498	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		23	43	0	0	0	1	0	23	43					T	30237647	C	T	30237647	3	4	281	1	0	0	0	0	1	0	0	0	9176	739	26	2	952	2	MAGEB2	23	30237647	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	27401619	30237647	125032913	87	30062											
MED14	9282	broad.mit.edu	37	chrX	40518771	40518771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttagctgaagcgtttggTtggttttgggactaagagct	13	5	0	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:40518771T>C	ENST00000324817.1	-	27	3891	c.3773A>G	c.(3772-3774)aAc>aGc	p.N1258S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1258					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)	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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGCGTTTGGTTGGTTTTGGG	0.398																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3772-3774)aAc>aGc		mediator complex subunit 14							196	170	179					X																	40518771		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40518771T>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3773A>G	X.37:g.40518771T>C	ENSP00000323720:p.Asn1258Ser						p.N1258S	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			27	3891	-			1258					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3773A>G	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747865	0.49257	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.53640	0.61;0.61	5.37	5.37	0.77165	.	0.044715	0.85682	D	0.000000	T	0.25005	0.0607	N	0.03608	-0.345	0.49299	D	0.999779	B;B	0.28470	0.213;0.213	B;B	0.23852	0.049;0.049	T	0.11518	-1.0584	10	0.23302	T	0.38	.	14.4515	0.67389	0.0:0.0:0.0:1.0	.	1258;1258	A8KAK5;O60244	.;MED14_HUMAN	S	1258;157	ENSP00000323720:N1258S;ENSP00000411357:N157S	ENSP00000323720:N1258S	N	-	2	0	MED14	40403715	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.763000	0.68818	1.792000	0.52537	0.486000	0.48141	AAC		0.398	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		39	61	0	0	0	1	0	39	61					C	40518771	T	C	40518771	3	2	281	1	0	0	0	0	1	0	0	0	9432	1725	60	3	611	3	MED14	23	40518771	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	10281124	40518771	114751789	88	30063											
DDX26B	203522	broad.mit.edu	37	chrX	134715064	134715064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttaccatcaaggaagccGcaaggtaggtataaacagga	10	7	1	0	rs143980255		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:134715064G>A	ENST00000370752.4	+	16	2807	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	825										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAAGCCGCAAGGTAGGT	0.383																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2473-2475)Gca>Aca		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B		G	THR/ALA	1,3832		0,1,1631,569	34	32	33		2473	3.6	1	X	dbSNP_134	33	0,6728		0,0,2428,1872	no	missense	DDX26B	NM_182540.4	58	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging	825/862	134715064	1,10560	2201	4300	6501	SO:0001583	missense	203522							g.chrX:134715064G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2473G>A	X.37:g.134715064G>A	ENSP00000359788:p.Ala825Thr					DDX26B_ENST00000493637.1_3'UTR	p.A825T	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			16	2807	+	Acute lymphoblastic leukemia(192;6.56e-05)		825					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2473G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630511	0.28978	2.61E-4	0.0	ENSG00000165359	ENST00000370752	T	0.33654	1.4	4.5	3.61	0.41365	.	0.098474	0.64402	D	0.000001	T	0.26122	0.0637	L	0.45137	1.4	0.42879	D	0.994164	P;B	0.51351	0.944;0.343	B;B	0.38755	0.281;0.052	T	0.05273	-1.0895	10	0.13853	T	0.58	-10.1692	12.5492	0.56218	0.0:0.0:0.8319:0.1681	.	825;825	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	T	825	ENSP00000359788:A825T	ENSP00000359788:A825T	A	+	1	0	DDX26B	134542730	1.000000	0.71417	0.982000	0.44146	0.060000	0.15804	4.205000	0.58466	0.933000	0.37291	0.594000	0.82650	GCA		0.383	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		5	13	0	0	0	1	0	5	13					A	134715064	G	A	134715064	3	1	281	1	0	0	0	0	1	0	0	0	4353	1087	38	1	2535	1	DDX26B	23	134715064	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	94196293	134715064	20555496	89	30064											
AVPR2	554	broad.mit.edu	37	chrX	153172155	153172155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaccaccgccagctcCtccctggccaaggacacttc	7	20	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:153172155C>T	ENST00000358927.2	+	4	1298	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000337474.5_Silent_p.S363S|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	363					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCGCCAGCTCCTCCCTGGCCA	0.642																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(1087-1089)tcC>tcT		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						36	35	35					X																	153172155		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153172155C>T	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1089C>T	X.37:g.153172155C>T						AVPR2_ENST00000337474.5_Silent_p.S363S|AVPR2_ENST00000370049.1_3'UTR	p.S363S			P30518	V2R_HUMAN			4	1298	+	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)		363					C5HF20|O43192|Q3MJD3|Q9UCV9	Silent	SNP	ENST00000358927.2	37	c.1089C>T	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	c	17.40	3.379798	0.61845	.	.	ENSG00000126895	ENST00000430697	T	0.77620	-1.11	4.16	3.29	0.37713	.	.	.	.	.	D	0.82346	0.5017	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82402	-0.0475	6	0.87932	D	0	-12.4993	10.4059	0.44256	0.0:0.8964:0.0:0.1036	.	.	.	.	L	334	ENSP00000393513:P334L	ENSP00000393513:P334L	P	+	2	0	AVPR2	152825349	1.000000	0.71417	0.997000	0.53966	0.688000	0.40055	1.714000	0.37961	0.698000	0.31739	0.418000	0.28097	CCT		0.642	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			18	71	0	0	0	1	0	18	71					T	153172155	C	T	153172155	2	4	281	1	0	0	0	0	0	0	0	1	1233	668	24	2		2	AVPR2	23	153172155	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	18457091	153172155	2098405	90	30065											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809173	18809173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctacaacccgctcacGgggatctggagcgaggtgtg	14	11	3	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	ENST00000400664.1	+	1	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	566						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1696-1698)acG>acA		kelch domain containing 7A							11	14	13					1																	18809173		2171	4274	6445	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809173G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1698G>A	1.37:g.18809173G>A							p.T566T	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1750	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	566					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1698G>A	CCDS185.2																																																																																				0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		15	29	0	0	0	1	0	15	29					A	18809173	G	A	18809173	2	1	282	1	0	0	0	0	0	0	0	1	8360	1103	39	1		1	KLHDC7A	1	18809173	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		18809173	230441448	1	30066											
SLC9A1	6548	broad.mit.edu	37	chr1	27440680	27440680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaggggggtgtctcGcctacacccttgatcaggcc	14	12	2	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	ENST00000263980.3	-	2	1025	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_ENST00000374086.3_Silent_p.G150G|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	150					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)	p.G150G(1)		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)	GGGGTGTCTCGCCTACACCCT	0.617																																						ENST00000263980.3																			1	Substitution - coding silent(1)	p.G150G(1)	endometrium(1)	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						c.(448-450)ggC>ggT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						64	63	63					1																	27440680		2203	4300	6503	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27440680G>A	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.450C>T	1.37:g.27440680G>A						SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.G150G	p.G150G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		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)	2	1025	-			150					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.450C>T	CCDS295.1																																																																																				0.617	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		28	40	0	0	0	1	0	28	40					A	27440680	G	A	27440680	2	1	282	1	0	0	0	0	0	0	0	1	14709	1074	38	1		1	SLC9A1	1	27440680	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08	8631507	27440680	221809941	2	30067											
CYP4B1	1580	broad.mit.edu	37	chr1	47279204	47279204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcctttgacatcttctgCgatgtgggtcacatggcgct	11	10	3	1	rs147120348	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	ENST00000271153.4	+	5	582	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_ENST00000452782.2_Silent_p.C19C|CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000371923.4_Silent_p.C182C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	182					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACATCTTCTGCGATGTGGGTC	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		22030	0.0		0.0	False		,,,				2504	0.002					ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(544-546)tgC>tgT		cytochrome P450, family 4, subfamily B, polypeptide 1		C	,	0,4406		0,0,2203	120	114	116		546,546	0	0.9	1	dbSNP_134	116	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	CYP4B1	NM_000779.3,NM_001099772.1	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	182/512,182/513	47279204	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279204C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.546C>T	1.37:g.47279204C>T						CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000452782.2_Silent_p.C19C|CYP4B1_ENST00000371923.4_Silent_p.C182C	p.C182C			P13584	CP4B1_HUMAN			5	582	+	Acute lymphoblastic leukemia(166;0.155)		182					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.546C>T	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		28	36	0	0	0	1	0	28	36					T	47279204	C	T	47279204	2	4	282	1	0	0	0	0	0	0	0	1	4185	776	27	1		1	CYP4B1	1	47279204	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	19838524	47279204	201971417	3	30068											
LPHN2	23266	broad.mit.edu	37	chr1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctatctgcatcttcaccTtctgctttttccgtggccta	7	13	4	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	ENST00000370728.1	+	17	3250	c.2605T>C	c.(2605-2607)Ttc>Ctc	p.F869L	LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L			O95490	LPHN2_HUMAN	latrophilin 2	869					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)		CATCTTCACCTTCTGCTTTTT	0.393																																						ENST00000370728.1																			0				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						c.(2605-2607)Ttc>Ctc		latrophilin 2							306	268	281					1																	82434955		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82434955T>C	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.2605T>C	1.37:g.82434955T>C	ENSP00000359763:p.Phe869Leu					LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000469377.2_Intron	p.F869L			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	17	3250	+			869					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2605T>C		.	.	.	.	.	.	.	.	.	.	T	25.9	4.680305	0.88542	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.55481	1.735	0.80722	D	1	P;B;P	0.43477	0.521;0.257;0.808	P;B;P	0.46452	0.457;0.147;0.517	T	0.13124	-1.0521	10	0.39692	T	0.17	.	15.1257	0.72481	0.0:0.0:0.0:1.0	.	856;856;856	O95490-3;O95490-4;O95490-2	.;.;.	L	794;869;869;869;869;856;856;856;856;856;869;856;869;869	ENSP00000359756:F794L;ENSP00000359763:F869L;ENSP00000359765:F869L;ENSP00000359762:F869L;ENSP00000359760:F869L;ENSP00000359758:F856L;ENSP00000353006:F856L;ENSP00000359750:F856L;ENSP00000359748:F856L;ENSP00000322270:F856L;ENSP00000359752:F869L;ENSP00000378344:F856L;ENSP00000271029:F869L;ENSP00000337306:F869L	ENSP00000271029:F869L	F	+	1	0	LPHN2	82207543	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	1.971000	0.57363	0.477000	0.44152	TTC		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		47	120	0	0	0	1	0	47	120					C	82434955	T	C	82434955	3	2	282	1	0	0	0	0	1	0	0	0	8916	1609	56	3	2612	3	LPHN2	1	82434955	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	35155751	82434955	166815666	4	30069											
ETV3	2117	broad.mit.edu	37	chr1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagcctggggatgacTctgttttgtaggcccagtca	15	10	2	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	ENST00000368192.4	-	3	144	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_ENST00000326786.4_Missense_Mutation_p.E27V|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	27					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(79-81)gAg>gTg		ets variant 3							115	110	112					1																	157105467		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105467T>A	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.80A>T	1.37:g.157105467T>A	ENSP00000357175:p.Glu27Val					ETV3_ENST00000326786.4_Missense_Mutation_p.E27V|ETV3_ENST00000460850.1_5'UTR	p.E27V	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	144	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	27					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.80A>T	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365979	0.82463	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.19806	2.24;2.12	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.20210	0.0486	L	0.27053	0.805	0.80722	D	1	P;D	0.71674	0.936;0.998	P;D	0.67900	0.69;0.954	T	0.03463	-1.1034	10	0.30854	T	0.27	.	14.5454	0.68027	0.0:0.0:0.0:1.0	.	27;27	P41162-2;P41162	.;ETV3_HUMAN	V	27	ENSP00000357175:E27V;ENSP00000327316:E27V	ENSP00000327316:E27V	E	-	2	0	ETV3	155372091	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.891000	0.69782	2.138000	0.66242	0.533000	0.62120	GAG		0.527	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		44	70	0	0	0	1	0	44	70					A	157105467	T	A	157105467	3	1	282	1	0	0	0	0	1	0	0	0	5279	1551	54	5	1502	5	ETV3	1	157105467	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	74670512	157105467	92145154	5	30070											
SIPA1L2	57568	broad.mit.edu	37	chr1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggtcggtctggagttgtCgaagaattaattccagctga	13	6	1	2	rs368811235		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	ENST00000366630.1	-	21	5355	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1666					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)				CTGGAGTTGTCGAAGAATTAA	0.393																																						ENST00000366630.1																			0				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						c.(4996-4998)cGa>cAa		signal-induced proliferation-associated 1 like 2		C	GLN/ARG	0,3692		0,0,1846	139	131	134		4997	5.5	0.4	1		134	2,8180		0,2,4089	no	missense	SIPA1L2	NM_020808.3	43	0,2,5935	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	1666/1723	232538163	2,11872	1846	4091	5937	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232538163C>T	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.4997G>A	1.37:g.232538163C>T	ENSP00000355589:p.Arg1666Gln					SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q	p.R1666Q			Q9P2F8	SI1L2_HUMAN			21	5355	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1666					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4997G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.350912	0.61183	0.0	2.44E-4	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.35048	1.33;1.33;1.33	5.47	5.47	0.80525	.	0.063176	0.64402	D	0.000006	T	0.51109	0.1655	L	0.58101	1.795	0.34667	D	0.723291	D;D	0.64830	0.994;0.976	P;P	0.53450	0.726;0.587	T	0.61148	-0.7121	10	0.59425	D	0.04	-5.1055	19.5817	0.95469	0.0:1.0:0.0:0.0	.	1666;722	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1666;1666;722	ENSP00000355589:R1666Q;ENSP00000262861:R1666Q;ENSP00000309102:R722Q	ENSP00000262861:R1666Q	R	-	2	0	SIPA1L2	230604786	1.000000	0.71417	0.384000	0.26145	0.096000	0.18686	3.703000	0.54808	2.850000	0.98022	0.650000	0.86243	CGA		0.393	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		20	24	0	0	0	1	0	20	24					T	232538163	C	T	232538163	3	4	282	1	0	0	0	0	1	0	0	0	14330	884	31	1	179	1	SIPA1L2	1	232538163	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	75432696	232538163	16712458	6	30071											
TANC1	85461	broad.mit.edu	37	chr2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctcaccttggccacgagGaagttgtcactctgctcctg	10	13	3	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	ENST00000263635.6	+	17	3082	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2845-2847)Gaa>Aaa		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							73	75	74					2																	160050870		2088	4214	6302	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050870G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2845G>A	2.37:g.160050870G>A	ENSP00000263635:p.Glu949Lys					TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	p.E949K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			17	3082	+			949					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2845G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579418	0.96565	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.19532	2.14;2.14	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.28274	0.84	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.97	D;P;P	0.81914	0.995;0.84;0.846	T	0.15122	-1.0448	10	0.66056	D	0.02	.	19.4918	0.95052	0.0:0.0:1.0:0.0	.	941;843;949	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	843;949	ENSP00000396339:E843K;ENSP00000263635:E949K	ENSP00000263635:E949K	E	+	1	0	TANC1	159759116	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	9.865000	0.99609	2.616000	0.88540	0.558000	0.71614	GAA		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			25	45	0	0	0	1	0	25	45					A	160050870	G	A	160050870	3	1	282	1	0	0	0	0	1	0	0	0	15541	1175	41	2	2903	2	TANC1	2	160050870	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08		160050870	83148503	7	30072											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	57	0	0	0	1	0	20	57					T	209113112	C	T	209113112	3	4	282	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	49062242	209113112	34086261	8	30073											
FEV	54738	broad.mit.edu	37	chr2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaactgccacagctggatctGtccgctgcctgtggggaggg	15	11	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	ENST00000295727.1	-	3	717	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	46					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697			T	"EWSR1,  FUS"	Ewing sarcoma																																NSCLC(198;941 2228 4658 24163 34665)	ENST00000295727.1				Dom	yes		2	2q36	54738	T	FEV protein - (HSRNAFEV)			M	"EWSR1,  FUS"		Ewing sarcoma	EWSR1/FEV(11)|FUS/FEV(2)	0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(136-138)Cag>Gag		FEV (ETS oncogene family)							5	6	5					2																	219846970		2111	4165	6276	SO:0001583	missense	54738				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:219846970G>C		CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"FEV (fifth Ewing variant)"			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.136C>G	2.37:g.219846970G>C	ENSP00000295727:p.Gln46Glu						p.Q46E	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	717	-		Renal(207;0.0474)	46						Missense_Mutation	SNP	ENST00000295727.1	37	c.136C>G	CCDS2428.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641615	0.87859	.	.	ENSG00000163497	ENST00000295727	T	0.55413	0.52	3.59	3.59	0.41128	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.000000	0.64402	U	0.000003	T	0.76357	0.3976	M	0.90977	3.165	0.52099	D	0.999942	D	0.53885	0.963	D	0.68621	0.959	T	0.83048	-0.0154	10	0.87932	D	0	.	14.1321	0.65260	0.0:0.0:1.0:0.0	.	46	Q99581	FEV_HUMAN	E	46	ENSP00000295727:Q46E	ENSP00000295727:Q46E	Q	-	1	0	FEV	219555214	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	1.849000	0.53698	0.462000	0.41574	CAG		0.697	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1			8	6	0	0	0	1	0	8	6					C	219846970	G	C	219846970	3	2	282	1	0	0	0	0	1	0	0	0	5822	1386	48	4	584	4	FEV	2	219846970	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	10733858	219846970	23352403	9	30074											
TRIP12	9320	broad.mit.edu	37	chr2	230724205	230724206	+	Frame_Shift_Ins	INS	-	-	C													ttgtctttcttaggcacctgINSccccgttttttgtctttctg							TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:230724205_230724206insC	ENST00000283943.5	-	3	361_362	c.183_184insG	c.(181-186)gggcagfs	p.Q62fs	TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.Q104fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	62					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)		TTAGGCACCTGCCCCGTTTTTT	0.45																																						ENST00000283943.5																			0				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						c.(181-186)ggaggtfs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724205_230724206insC	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.184dupG	2.37:g.230724209_230724209dupC	ENSP00000283943:p.Gln62fs					TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.G104fs	p.G62fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	361_362	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	62					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	c.183_184insG	CCDS33391.1																																																																																				0.45	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	266						7	266	---	---	---	---	C	230724206	-	C	230724205	7	5	282	1	0	1	1	0	0	0	0	0	16553	1328	46	0	5950	0	TRIP12	2	230724205	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08	10877235	230724205	12475168	10	30075											
SP140	11262	broad.mit.edu	37	chr2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggccaggtggtctccagtGaaaagaaggcgaacgtgaat	14	8	1	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000343805.6_Missense_Mutation_p.E474K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	534					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		GGTCTCCAGTGAAAAGAAGGC	0.458																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1600-1602)Gaa>Aaa		SP140 nuclear body protein							161	161	161					2																	231150502		1862	4096	5958	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231150502G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1600G>A	2.37:g.231150502G>A	ENSP00000375899:p.Glu534Lys					SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000343805.6_Missense_Mutation_p.E474K	p.E534K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	17	1714	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	534					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1600G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	1.233	-0.623552	0.03636	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.56611	0.65;0.93;0.73;0.45;0.73	1.58	-1.58	0.08479	.	.	.	.	.	T	0.52058	0.1711	L	0.48642	1.525	0.09310	N	1	P;P;D;B	0.56035	0.956;0.956;0.974;0.279	P;P;D;B	0.70487	0.525;0.899;0.969;0.081	T	0.46871	-0.9160	9	0.02654	T	1	-0.0255	5.0546	0.14525	0.5991:0.0:0.4009:0.0	.	507;420;474;534	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	K	458;403;534;420;474;507	ENSP00000440107:E458K;ENSP00000345846:E403K;ENSP00000375899:E534K;ENSP00000342096:E474K;ENSP00000398210:E507K	ENSP00000342096:E474K	E	+	1	0	SP140	230858746	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.659000	0.01975	-0.528000	0.06366	0.306000	0.20318	GAA		0.458	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		51	80	0	0	0	1	0	51	80					A	231150502	G	A	231150502	3	1	282	1	0	0	0	0	1	0	0	0	14962	1291	45	2	1783	2	SP140	2	231150502	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	426297	231150502	12048871	11	30076											
CADM2	253559	broad.mit.edu	37	chr3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttatttctagatacaccatCagttaagattataccatcga	4	8	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	ENST00000407528.2	+	6	745	c.683C>G	c.(682-684)tCa>tGa	p.S228*	CADM2_ENST00000383699.3_Nonsense_Mutation_p.S237*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	228	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(709-711)tCa>tGa		cell adhesion molecule 2							97	103	101					3																	85984926		2203	4297	6500	SO:0001587	stop_gained	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85984926C>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.683C>G	3.37:g.85984926C>G	ENSP00000384575:p.Ser228*					CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.S228*	p.S237*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	7	1337	+		Lung NSC(201;0.0148)	228			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	c.710C>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384475	0.95967	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.65	5.65	0.86999	.	0.413977	0.27231	N	0.020311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	13.4181	0.60980	0.0:0.9187:0.0:0.0813	.	.	.	.	X	237;228;230	.	ENSP00000373200:S237X	S	+	2	0	CADM2	86067616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.807000	0.55591	2.665000	0.90641	0.650000	0.86243	TCA		0.328	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		56	83	0	0	0	1	0	56	83					G	85984926	C	G	85984926	4	3	282	1	0	0	0	0	0	1	0	0	2567	838	29	4	776	4	CADM2	3	85984926	Nonsense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		85984926	112037504	12	30077											
C7	730	broad.mit.edu	37	chr5	40955639	40955639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgactaatcttcctcAagtcataaaacaaaaggtat	5	8	4	1	rs370190257		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:40955639A>G	ENST00000313164.9	+	10	1603	c.1244A>G	c.(1243-1245)cAa>cGa	p.Q415R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	415	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				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)							Ovarian(839;0.0112)				AATCTTCCTCAAGTCATAAAA	0.413																																						ENST00000313164.9																			0											c.(1243-1245)cAa>cGa		complement component 7		A	ARG/GLN	0,3712		0,0,1856	89	87	88		1244	1.4	0	5		88	1,8205		0,1,4102	no	missense	C7	NM_000587.2	43	0,1,5958	GG,GA,AA		0.0122,0.0,0.0084	benign	415/844	40955639	1,11917	1856	4103	5959	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40955639A>G	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.1244A>G	5.37:g.40955639A>G	ENSP00000322061:p.Gln415Arg						p.Q415R	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			10	1603	+		Ovarian(839;0.0112)	415			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1244A>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	0.217	-1.031414	0.02029	0.0	1.22E-4	ENSG00000112936	ENST00000313164;ENST00000440677	D	0.84589	-1.87	5.26	1.36	0.22044	Membrane attack complex component/perforin (MACPF) domain (3);	1.223620	0.05497	N	0.557770	T	0.75064	0.3799	L	0.41415	1.275	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.52305	-0.8593	10	0.14656	T	0.56	2.3304	1.0066	0.01488	0.3614:0.2846:0.2164:0.1376	.	415	P10643	CO7_HUMAN	R	415;255	ENSP00000322061:Q415R	ENSP00000322061:Q415R	Q	+	2	0	C7	40991396	0.003000	0.15002	0.006000	0.13384	0.133000	0.20885	0.764000	0.26532	0.045000	0.15804	0.533000	0.62120	CAA		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	90	0	0	0	1	0	4	90					G	40955639	A	G	40955639	3	3	282	1	0	0	0	0	1	0	0	0	2375	130	5	3	1282	3	C7	5	40955639	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		40955639	139959621	13	30078											
ALDH7A1	501	broad.mit.edu	37	chr5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagttgtacccaagccagcGaaagattctgcccagatctt	8	11	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	ENST00000409134.3	-	15	1624	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	469					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCAAGCCAGCGAAAGATTCTG	0.348																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1405-1407)Cgc>Tgc		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						106	105	105					5																	125885898		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125885898G>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1405C>T	5.37:g.125885898G>A	ENSP00000387123:p.Arg469Cys					ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C	p.R469C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	15	1624	-		all_cancers(142;0.24)|Prostate(80;0.081)	469					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1405C>T	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951390	0.73787	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	T;T;T	0.78924	-1.22;-1.22;-1.22	4.59	4.59	0.56863	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.051244	0.85682	D	0.000000	D	0.90611	0.7056	M	0.93507	3.425	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.924	D	0.93040	0.6456	10	0.72032	D	0.01	.	17.543	0.87853	0.0:0.0:1.0:0.0	.	432;469	E7EPT3;P49419	.;AL7A1_HUMAN	C	469;405;432;277	ENSP00000387123:R469C;ENSP00000448593:R405C;ENSP00000414132:R432C	ENSP00000387123:R469C	R	-	1	0	ALDH7A1	125913797	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.355000	0.66046	2.552000	0.86080	0.561000	0.74099	CGC		0.348	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		22	61	0	0	0	1	0	22	61					A	125885898	G	A	125885898	3	1	282	1	0	0	0	0	1	0	0	0	504	1058	37	1	230	1	ALDH7A1	5	125885898	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	84930259	125885898	55029362	14	30079											
MRAP2	112609	broad.mit.edu	37	chr6	84799071	84799071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaacaggctcatgaaGtttgacatccccaactttgt	9	10	1	3	rs375536731		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	ENST00000257776.4	+	4	624	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	163					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|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)|identical protein binding (GO:0042802)|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)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493																																						ENST00000257776.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(487-489)aaG>aaA		melanocortin 2 receptor accessory protein 2		G		0,4406		0,0,2203	123	122	122		489	-0.8	1	6		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MRAP2	NM_138409.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		163/206	84799071	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799071G>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"chromosome 6 open reading frame 117"	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.489G>A	6.37:g.84799071G>A							p.K163K	NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN			4	624	+			163					A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	c.489G>A	CCDS5001.1																																																																																				0.493	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		44	58	0	0	0	1	0	44	58					A	84799071	G	A	84799071	2	1	282	1	0	0	0	0	0	0	0	1	9754	1020	36	2		2	MRAP2	6	84799071	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		84799071	86315996	15	30080											
ABCA13	154664	broad.mit.edu	37	chr7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagatatggtcctcgccgaAtcagctaaattgtgaaagtc	9	8	1	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	ENST00000435803.1	+	21	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2995					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						TCCTCGCCGAATCAGCTAAAT	0.393																																						ENST00000435803.1																			0				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						c.(8983-8985)aAt>aCt		ATP-binding cassette, sub-family A (ABC1), member 13							126	128	127					7																	48335325		1884	4111	5995	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48335325A>C	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.8984A>C	7.37:g.48335325A>C	ENSP00000411096:p.Asn2995Thr						p.N2995T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			21	9008	+			2995					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8984A>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030893	0.07543	.	.	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	5.49	-11.0	0.00169	.	1.492070	0.04181	N	0.326422	T	0.68495	0.3007	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.11329	0.001;0.006	T	0.57934	-0.7725	10	0.48119	T	0.1	.	2.9173	0.05757	0.1247:0.3813:0.1301:0.3639	.	697;2995	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	2995	ENSP00000411096:N2995T	ENSP00000411096:N2995T	N	+	2	0	ABCA13	48305871	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.781000	0.01774	-3.324000	0.00187	-0.290000	0.09829	AAT		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		43	93	0	0	0	1	0	43	93					C	48335325	A	C	48335325	3	2	282	1	0	0	0	0	1	0	0	0	31	101	4	5	8895	5	ABCA13	7	48335325	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		48335325	110803338	16	30081											
TRPA1	8989	broad.mit.edu	37	chr8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagataaatacaactgtagaCctcaacaaagttttcaaaat	4	7	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	ENST00000262209.4	-	22	2823	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	872					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2614-2616)agG>agT		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						74	76	75					8																	72946552		2203	4298	6501	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72946552C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2616G>T	8.37:g.72946552C>A	ENSP00000262209:p.Arg872Ser					RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.R872S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		22	2823	-			872					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2616G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955293	0.34471	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.32023	1.47;1.47	5.84	1.01	0.19927	Ion transport (1);	0.187139	0.56097	D	0.000022	T	0.36248	0.0960	M	0.69185	2.1	0.39422	D	0.966939	P	0.45283	0.855	P	0.48524	0.58	T	0.12785	-1.0534	10	0.46703	T	0.11	-19.3515	8.8148	0.34989	0.0:0.5273:0.0:0.4727	.	872	O75762	TRPA1_HUMAN	S	724;872	ENSP00000428151:R724S;ENSP00000262209:R872S	ENSP00000262209:R872S	R	-	3	2	TRPA1	73109106	1.000000	0.71417	0.188000	0.23233	0.797000	0.45037	0.559000	0.23485	-0.104000	0.12154	-0.345000	0.07892	AGG		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		26	34	1	0	7.92952e-12	1	8.59032e-12	26	34					A	72946552	C	A	72946552	3	1	282	1	0	0	0	0	1	0	0	0	16574	506	18	4	767	4	TRPA1	8	72946552	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		72946552	73417470	17	30082											
WWP1	11059	broad.mit.edu	37	chr8	87443690	87443690	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatcataacacaaaaacAacccagtgggaagatccaag	8	9	1	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	ENST00000517970.1	+	13	1750	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000265428.4_Silent_p.T481T|WWP1_ENST00000341922.2_Silent_p.T351T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	481	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1441-1443)acA>acC		WW domain containing E3 ubiquitin protein ligase 1							72	72	72					8																	87443690		2203	4300	6503	SO:0001819	synonymous_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87443690A>C	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1443A>C	8.37:g.87443690A>C						WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000341922.2_Silent_p.T351T|WWP1_ENST00000265428.4_Silent_p.T481T	p.T481T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			13	1750	+			481			WW 3.		O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	c.1443A>C	CCDS6242.1																																																																																				0.348	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	67	0	0	0	1	0	22	67					C	87443690	A	C	87443690	2	2	282	1	0	0	0	0	0	0	0	1	17412	117	5	5		5	WWP1	8	87443690	Silent	SNP	A	TCGA-HT-7873-01B-11D-2395-08	14497138	87443690	58920332	18	30083											
KIAA0649	9858	broad.mit.edu	37	chr9	138379182	138379182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgccgcccaggagcacCagcggcggtgtctccgccaa	14	17	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr9:138379182C>T	ENST00000356818.2	+	4	3375	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000605660.1_Silent_p.T942T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	942					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCAGGAGCACCAGCGGCGGTG	0.652																																						ENST00000356818.2																			0											c.(2824-2826)acC>acT		protein phosphatase 1, regulatory subunit 26							31	37	35					9																	138379182		1972	3913	5885	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379182C>T	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.2826C>T	9.37:g.138379182C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.T942T|PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000604351.1_Silent_p.T942T	p.T942T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3375	+			942					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2826C>T	CCDS6988.1																																																																																				0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		59	53	0	0	0	1	0	59	53					T	138379182	C	T	138379182	2	4	282	1	0	0	0	0	0	0	0	1	8187	581	21	2		2	KIAA0649	9	138379182	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08		138379182	2834249	19	30084											
A1CF	29974	broad.mit.edu	37	chr10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T													gatttcttctctctttttggINStttttgggatgcccccaaca							TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	ENST00000373993.1	-	4	480_481	c.436_437insA	c.(436-438)accfs	p.T146fs	A1CF_ENST00000374001.2_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000395489.2_Frame_Shift_Ins_p.T139fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.T154fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.T146fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	146	RRM 2. {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						TCTCTTTTTGGTTTTTGGGATG	0.446																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(415-417)caafs		APOBEC1 complementation factor																																				SO:0001589	frameshift_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52596001_52596002insT	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.437dupA	10.37:g.52596006_52596006dupT	ENSP00000363105:p.Thr146fs					A1CF_ENST00000282641.2_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.Q154fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.Q146fs	p.Q139fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	811_812	-			146			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Ins	INS	ENST00000373993.1	37	c.415_416insA	CCDS7242.1																																																																																				0.446	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		39	103						39	103	---	---	---	---	T	52596002	-	T	52596001	7	5	282	1	0	1	1	0	0	0	0	0	2	1261	44	0	1379	0	A1CF	10	52596001	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08		52596001	82938746	20	30085											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-													aatcactggtggtggggtagCatcatcatcatcatcatcct							TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				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)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	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.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	170						7	170	---	---	---	---	-	77069992	CAT	-	77069990	7	5	282	1	0	1	0	1	0	0	0	0	11399	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-HT-7873-01B-11D-2395-08		77069990	57936526	21	30086											
MAB21L1	4081	broad.mit.edu	37	chr13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttcgggttggtcaggatctCtcttgccagtcgccacgttt	11	11	3	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	ENST00000379919.4	-	1	1598	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	348					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)		GTCAGGATCTCTCTTGCCAGT	0.433																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1042-1044)Gag>Cag		mab-21-like 1 (C. elegans)							86	91	89					13																	36049234		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049234C>G	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.1042G>C	13.37:g.36049234C>G	ENSP00000369251:p.Glu348Gln					NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	p.E348Q	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		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)	1	1598	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	348					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.1042G>C	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384724	0.42308	.	.	ENSG00000180660	ENST00000379919	T	0.19394	2.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.45581	1.43	0.80722	D	1	B	0.28378	0.209	B	0.23275	0.045	T	0.02232	-1.1191	10	0.26408	T	0.33	-14.9806	19.9576	0.97228	0.0:1.0:0.0:0.0	.	348	Q13394	MB211_HUMAN	Q	348	ENSP00000369251:E348Q	ENSP00000369251:E348Q	E	-	1	0	MAB21L1	34947234	1.000000	0.71417	0.965000	0.40720	0.966000	0.64601	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GAG		0.433	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		37	84	0	0	0	1	0	37	84					G	36049234	C	G	36049234	3	3	282	1	0	0	0	0	1	0	0	0	9141	922	32	4	41	4	MAB21L1	13	36049234	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		36049234	79120644	22	30087											
POTEG	404785	broad.mit.edu	37	chr14	19562088	19562088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatttaaatgcactggAtagatatggaaggtatagtt	10	3	0	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:19562088A>G	ENST00000409832.3	+	4	957	c.905A>G	c.(904-906)gAt>gGt	p.D302G	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	302										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCACTGGATAGATATGGA	0.328																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(904-906)gAt>gGt		POTE ankyrin domain family, member G							13	13	13					14																	19562088		1179	1378	2557	SO:0001583	missense	404785							g.chr14:19562088A>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.905A>G	14.37:g.19562088A>G	ENSP00000386971:p.Asp302Gly						p.D302G	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			4	957	+			302					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.905A>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	11.13	1.547450	0.27652	.	.	ENSG00000222036	ENST00000409832	T	0.61274	0.12	1.54	1.54	0.23209	Ankyrin repeat-containing domain (4);	0.190488	0.24833	U	0.035235	T	0.72953	0.3525	M	0.86953	2.85	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.59783	-0.7389	10	0.72032	D	0.01	.	5.2251	0.15389	1.0:0.0:0.0:0.0	.	302	Q6S5H5	POTEG_HUMAN	G	302	ENSP00000386971:D302G	ENSP00000386971:D302G	D	+	2	0	POTEG	18632088	0.519000	0.26242	0.004000	0.12327	0.025000	0.11179	2.397000	0.44477	0.967000	0.38186	0.155000	0.16302	GAT		0.328	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		17	3	0	0	0	1	0	17	3					G	19562088	A	G	19562088	3	3	282	1	0	0	0	0	1	0	0	0	12266	333	12	3	919	3	POTEG	14	19562088	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		19562088	87787452	23	30088											
ADCY4	196883	broad.mit.edu	37	chr14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaccttgatgacaccccGgctgtagcaggtgtagccca	10	13	1	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	ENST00000310677.4	-	26	3249	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					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)		ATGACACCCCGGCTGTAGCAG	0.562																																						ENST00000310677.4																			0				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						c.(3136-3138)Cgg>Tgg		adenylate cyclase 4							113	102	106					14																	24787720		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787720G>A	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.3136C>T	14.37:g.24787720G>A	ENSP00000312126:p.Arg1046Trp					ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	26	3249	-			1046					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.3136C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032896	0.75504	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.34472	1.36;1.36;1.36	5.52	3.6	0.41247	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.41500	D	0.000873	T	0.75525	0.3861	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85481	0.1179	10	0.87932	D	0	.	12.945	0.58367	0.0:0.0:0.7086:0.2914	.	1046	Q8NFM4	ADCY4_HUMAN	W	1046	ENSP00000312126:R1046W;ENSP00000452250:R1046W;ENSP00000393177:R1046W	ENSP00000312126:R1046W	R	-	1	2	ADCY4	23857560	0.988000	0.35896	0.987000	0.45799	0.945000	0.59286	1.048000	0.30379	1.280000	0.44463	0.655000	0.94253	CGG		0.562	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			27	59	0	0	0	1	0	27	59					A	24787720	G	A	24787720	3	1	282	1	0	0	0	0	1	0	0	0	296	1115	39	1	101	1	ADCY4	14	24787720	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	5225632	24787720	82561820	24	30089											
ALKBH1	8846	broad.mit.edu	37	chr14	78161070	78161102	+	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-													ttaacacttcattctgattgAcaagacttacctcaggaact					rs372795735|rs369190213|rs201927341|rs374787102		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ENST00000216489.3	-	3	449_471	c.434_456delAACAGAGCAAAGAGTTCCTGAGGTAAGTCTTGT	c.(433-456)gaacagagcaaagagttcctgagg>g	p.EQSKEFLR145del	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	145					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC	0.403																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.e3+1		alkB, alkylation repair homolog 1 (E. coli)																																				SO:0001630	splice_region_variant	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.455+1AACAGAGCAAAGAGTTCCTGAGGTAAGTCTTGT>-	14.37:g.78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT						ALKBH1_ENST00000554097.1_5'UTR	p.145_splice	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	3	449_471	-			145					Q8TAU1|Q9ULA7	Splice_Site	DEL	ENST00000216489.3	37	c.455_splice	CCDS32127.1																																																																																				0.403	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020	In_Frame_Del	8	142						8	142	---	---	---	---	-	78161102	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-	78161070	8	5	282	1	0	1	0	1	0	0	1	0	526	290	10	0		0	ALKBH1	14	78161070	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	TCGA-HT-7873-01B-11D-2395-08	53373350	78161070	29188470	25	30090											
MYO9A	4649	broad.mit.edu	37	chr15	72172772	72172772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatagaatccaaagccacGttgctaatcttcacacttcg	6	12	2	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	ENST00000356056.5	-	29	5998	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000444904.1_Silent_p.N1823N|MYO9A_ENST00000564571.1_Silent_p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1842	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5524-5526)aaC>aaT		myosin IXA							138	129	132					15																	72172772		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72172772G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5526C>T	15.37:g.72172772G>A						MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N|MYO9A_ENST00000444904.1_Silent_p.N1823N	p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			29	5998	-			1842			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.5526C>T	CCDS10239.1																																																																																				0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		45	100	0	0	0	1	0	45	100					A	72172772	G	A	72172772	2	1	282	1	0	0	0	0	0	0	0	1	10084	1136	40	1		1	MYO9A	15	72172772	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		72172772	30358620	26	30091											
ALDH1A3	220	broad.mit.edu	37	chr15	101425495	101425495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcaacaatgaatggcaCgaatccaagagtgggaaaaa	9	6	1	2	rs2229182	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	ENST00000329841.5	+	2	655	c.123C>T	c.(121-123)caC>caT	p.H41H	ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000346623.6_Silent_p.H41H	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	41					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(121-123)caC>caT		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						96	95	96					15																	101425495		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425495C>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.123C>T	15.37:g.101425495C>T						ALDH1A3_ENST00000346623.6_Silent_p.H41H|ALDH1A3_ENST00000560555.1_3'UTR	p.H41H	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	655	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		41					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.123C>T	CCDS10389.1																																																																																				0.348	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			18	36	0	0	0	1	0	18	36					T	101425495	C	T	101425495	2	4	282	1	0	0	0	0	0	0	0	1	492	535	19	1		1	ALDH1A3	15	101425495	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	29252723	101425495	1105897	27	30092											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1	rs190057031	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	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						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				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						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3	5	4					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	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.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	13	0	0	0	1	0	3	13					C	18937330	T	C	18937330	3	2	282	1	0	0	0	0	1	0	0	0	14795	1580	55	3	11203	3	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		18937330	71417423	28	30093											
NFAT5	10725	broad.mit.edu	37	chr16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagcagttatcttcaGttttattttctgctccagat	6	10	3	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	ENST00000354436.2	+	12	2749	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I|NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000349945.1_Missense_Mutation_p.V735I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	811					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						GTTATCTTCAGTTTTATTTTC	0.448																																						ENST00000349945.1																			0				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						c.(2203-2205)Gtt>Att		nuclear factor of activated T-cells 5, tonicity-responsive							107	107	107					16																	69726213		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726213G>A	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.2431G>A	16.37:g.69726213G>A	ENSP00000346420:p.Val811Ile					NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000354436.2_Missense_Mutation_p.V811I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I	p.V735I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3755	+			811					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2203G>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656154	0.67586	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.55052	0.54;0.63;0.62;0.63	6.08	6.08	0.98989	.	0.086924	0.48767	D	0.000177	T	0.69931	0.3166	M	0.61703	1.905	0.50813	D	0.999895	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.70716	0.97;0.97;0.97	T	0.60042	-0.7340	10	0.17832	T	0.49	-3.0662	20.6634	0.99662	0.0:0.0:1.0:0.0	.	828;811;829	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	829;828;735;811;735	ENSP00000396538:V829I;ENSP00000338806:V735I;ENSP00000346420:V811I;ENSP00000377343:V735I	ENSP00000338806:V735I	V	+	1	0	NFAT5	68283714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.894000	0.99253	0.655000	0.94253	GTT		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		44	86	0	0	0	1	0	44	86					A	69726213	G	A	69726213	3	1	282	1	0	0	0	0	1	0	0	0	10360	1029	36	2	2535	2	NFAT5	16	69726213	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	50788883	69726213	20628540	29	30094											
TP53	7157	broad.mit.edu	37	chr17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-													tgagttccaaggcctcattcAgctctcggaacatctcgaag					rs375573770|rs375338359|rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	ENST00000269305.4	-	10	1213_1220	c.1024_1031delCGAGAGCT	c.(1024-1032)cgagagctgfs	p.REL342fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(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)	GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		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)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		112	Substitution - Nonsense(78)|Deletion - Frameshift(12)|Substitution - Missense(10)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(1)	upper_aerodigestive_tract(18)|breast(17)|lung(12)|large_intestine(10)|central_nervous_system(9)|ovary(9)|liver(5)|skin(5)|pancreas(5)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|urinary_tract(3)|stomach(2)|biliary_tract(2)|peritoneum(1)|kidney(1)|endometrium(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	GRCh37	CM004908|CM961377	TP53	M	rs121912662	c.(1024-1032)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573996_7574003delAGCTCTCG	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.1024_1031delCGAGAGCT	17.37:g.7573996_7574003delAGCTCTCG	ENSP00000269305:p.Arg342fs	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)				TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000455263.2_3'UTR	p.REL342fs	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213_1220	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1024_1031delCGAGAGCT	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	10						16	10	---	---	---	---	-	7574003	AGCTCTCG	-	7573996	7	5	282	1	0	1	0	1	0	0	0	0	16378	188	7	0	158	0	TP53	17	7573996	Frame_Shift_Del	DEL	AGCTCTCG	TCGA-HT-7873-01B-11D-2395-08		7573996	73621214	30	30095											
LPO	4025	broad.mit.edu	37	chr17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcagaagtggataccccCatatcaaggctacagtgaat	9	10	1	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	ENST00000262290.4	+	10	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_ENST00000421678.2_Missense_Mutation_p.P361L|LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	444					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						TGGATACCCCCATATCAAGGC	0.478																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1330-1332)cCa>cTa		lactoperoxidase							103	103	103					17																	56342147		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342147C>T	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.1331C>T	17.37:g.56342147C>T	ENSP00000262290:p.Pro444Leu					LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L|LPO_ENST00000421678.2_Missense_Mutation_p.P361L	p.P444L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			10	1647	+			444					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1331C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.798989	0.16397	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.69040	-0.37;-0.37;-0.37	5.95	4.94	0.65067	.	0.341736	0.31809	N	0.007027	T	0.44891	0.1315	L	0.31420	0.93	0.18873	N	0.999983	B;B	0.21520	0.001;0.057	B;B	0.21917	0.002;0.037	T	0.31586	-0.9938	10	0.08599	T	0.76	-10.5889	3.2061	0.06666	0.2196:0.5438:0.1421:0.0945	.	361;444	E7EMJ3;P22079	.;PERL_HUMAN	L	444;361;385;189	ENSP00000262290:P444L;ENSP00000400245:P361L;ENSP00000445344:P385L	ENSP00000262290:P444L	P	+	2	0	LPO	53697146	0.000000	0.05858	0.956000	0.39512	0.384000	0.30261	-0.501000	0.06398	2.824000	0.97209	0.655000	0.94253	CCA		0.478	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			35	47	0	0	0	1	0	35	47					T	56342147	C	T	56342147	3	4	282	1	0	0	0	0	1	0	0	0	8922	594	21	2	1365	2	LPO	17	56342147	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	48768151	56342147	24853063	31	30096											
PCSK4	148223	broad.mit.edu	37	chr19	1481915	1481915	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccgaggctgggcagCggtggtggggacaggcggca	21	10	0	0	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.R704H|C19orf25_ENST00000588849.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000591027.1_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														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)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGGCAGCGGTGGTGGGG	0.711																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(2110-2112)cGc>cAc		proprotein convertase subtilisin/kexin type 4		C	HIS/ARG	3,4379		0,3,2188	15	18	17		2111	-3.4	0	19	dbSNP_134	17	0,8562		0,0,4281	no	missense	PCSK4	NM_017573.3	29	0,3,6469	TT,TC,CC		0.0,0.0685,0.0232	benign	704/756	1481915	3,12941	2191	4281	6472	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1481915C>T	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481915C>T	Exception_encountered						p.R704H	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		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)	15	2172	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	704					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.2111G>A	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298080	0.23650	6.85E-4	0.0	ENSG00000115257	ENST00000300954	T	0.70164	-0.46	3.73	-3.36	0.04913	Growth factor, receptor (1);	.	.	.	.	T	0.42517	0.1206	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20438	-1.0275	9	0.21540	T	0.41	.	3.7635	0.08613	0.255:0.3608:0.0:0.3842	.	704	Q6UW60	PCSK4_HUMAN	H	704	ENSP00000300954:R704H	ENSP00000300954:R704H	R	-	2	0	PCSK4	1432915	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.876000	0.00717	-0.161000	0.10983	0.313000	0.20887	CGC		0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		8	16	0	0	0	1	0	8	16					T	1481915	C	T	1481915	1	4	282	0	1	0	0	0	0	0	0	0	11602	768	27	1		1	PCSK4	19	1481915	5'Flank	SNP	C	TCGA-HT-7873-01B-11D-2395-08		1481915	57647068	32	30097											
ZNF256	10172	broad.mit.edu	37	chr19	58453810	58453810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgtaattgtttcctacaTgccccgtctgtatacagttt	6	9	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	ENST00000282308.3	-	3	562	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	122					multicellular organismal development (GO:0007275)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		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;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(364-366)gcA>gcG		zinc finger protein 256							246	213	224					19																	58453810		2203	4300	6503	SO:0001819	synonymous_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453810T>C	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.366A>G	19.37:g.58453810T>C						ZNF256_ENST00000598928.1_3'UTR	p.A122A	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	562	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	122					B2RA92|Q53Y85|Q9BV71	Silent	SNP	ENST00000282308.3	37	c.366A>G	CCDS12966.1																																																																																				0.458	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			50	93	0	0	0	1	0	50	93					C	58453810	T	C	58453810	2	2	282	1	0	0	0	0	0	0	0	1	17796	1451	51	3		3	ZNF256	19	58453810	Silent	SNP	T	TCGA-HT-7873-01B-11D-2395-08	56971895	58453810	675173	33	30098											
SSTR4	6754	broad.mit.edu	37	chr20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctctccgacaacttcCgccgattcttccagcgggtt	8	16	2	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	ENST00000255008.3	+	1	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	319					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(955-957)Cgc>Tgc		somatostatin receptor 4							85	91	89					20																	23017075		2199	4300	6499	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017075C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.955C>T	20.37:g.23017075C>T	ENSP00000255008:p.Arg319Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.R319C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	1019	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		319					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.955C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701640	0.30142	.	.	ENSG00000132671	ENST00000255008	T	0.58358	0.34	3.65	2.64	0.31445	.	0.000000	0.64402	U	0.000006	T	0.62221	0.2410	L	0.55990	1.75	0.45690	D	0.998607	D	0.89917	1.0	D	0.67231	0.95	T	0.65142	-0.6240	10	0.87932	D	0	.	9.5473	0.39288	0.3639:0.6361:0.0:0.0	.	319	P31391	SSR4_HUMAN	C	319	ENSP00000255008:R319C	ENSP00000255008:R319C	R	+	1	0	SSTR4	22965075	0.071000	0.21146	0.988000	0.46212	0.235000	0.25334	0.158000	0.16422	1.852000	0.53769	0.655000	0.94253	CGC		0.587	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			44	52	0	0	0	1	0	44	52					T	23017075	C	T	23017075	3	4	282	1	0	0	0	0	1	0	0	0	15199	652	23	1	957	1	SSTR4	20	23017075	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		23017075	40008445	34	30099											
POTEH	23784	broad.mit.edu	37	chr22	16279207	16279207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactataccttccatatctaTccagtgcatttaaatttgct	3	10	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr22:16279207T>C	ENST00000343518.6	-	4	1067	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	339										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATATCTATCCAGTGCATT	0.318																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1015-1017)gAt>gGt		POTE ankyrin domain family, member H																																				SO:0001583	missense	23784							g.chr22:16279207T>C	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.1016A>G	22.37:g.16279207T>C	ENSP00000340610:p.Asp339Gly						p.D339G	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1067	-			339					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1016A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.615587	0.28801	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.61274	0.12	1.38	1.38	0.22167	Ankyrin repeat-containing domain (4);	0.190488	0.24833	U	0.035235	T	0.69468	0.3114	M	0.78344	2.41	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.993;0.998	T	0.55736	-0.8094	10	0.62326	D	0.03	.	4.9438	0.13978	0.0:0.0:0.0:1.0	.	339;302	Q6S545;A6NKF6	POTEH_HUMAN;.	G	302;339	ENSP00000340610:D339G	ENSP00000340610:D339G	D	-	2	0	POTEH	14659207	0.144000	0.22641	0.007000	0.13788	0.033000	0.12548	2.026000	0.41069	0.890000	0.36211	0.147000	0.16070	GAT		0.318	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		15	258	0	0	0	1	0	15	258					C	16279207	T	C	16279207	3	2	282	1	0	0	0	0	1	0	0	0	12267	1435	50	3	649	3	POTEH	22	16279207	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		16279207	35025359	35	30100											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-													ttgctgcttcttaggaagtcGatctcttaattccatgatgg							TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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						TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)|p.R907*(1)	lung(1)|bone(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						c.(2719-2721)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						189	173	179					X																	76938029		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938029delG	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.2719delC	X.37:g.76938029delG	ENSP00000362441:p.Arg907fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	p.R907fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2933	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2719delC	CCDS14434.1																																																																																				0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		154	38						154	38	---	---	---	---	-	76938029	G	-	76938029	7	5	282	1	0	1	0	1	0	0	0	0	1208	1066	37	0	4867	0	ATRX	23	76938029	Frame_Shift_Del	DEL	G	TCGA-HT-7873-01B-11D-2395-08		76938029	78332531	36	30101											
SPANXD	64648	broad.mit.edu	37	chrX	140785749	140785749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcttttaaagttcctcCtgtagcgaaccactagtatg	7	9	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:140785749C>T	ENST00000370515.3	-	2	500	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	56						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AAAGTTCCTCCTGTAGCGAAC	0.488																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(166-168)aGg>aAg		SPANX family, member D							238	181	200					X																	140785749		2202	4288	6490	SO:0001583	missense	64648							g.chrX:140785749C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.167G>A	X.37:g.140785749C>T	ENSP00000359546:p.Arg56Lys						p.R56K	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	500	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.167G>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	4.657	0.122232	0.08931	.	.	ENSG00000196406	ENST00000370515	T	0.09350	2.99	.	.	.	.	.	.	.	.	T	0.06188	0.0160	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41910	-0.9482	6	0.23891	T	0.37	.	.	.	.	.	56	Q9BXN6	SPNXD_HUMAN	K	56	ENSP00000359546:R56K	ENSP00000359546:R56K	R	-	2	0	SPANXD	140613415	0.011000	0.17503	0.008000	0.14137	0.011000	0.07611	0.064000	0.14437	0.431000	0.26258	0.068000	0.15388	AGG		0.488	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			6	169	0	0	0	1	0	6	169					T	140785749	C	T	140785749	3	4	282	1	0	0	0	0	1	0	0	0	14988	681	24	2	130	2	SPANXD	23	140785749	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	63847720	140785749	14484811	37	30102											
CLCA2	9635	broad.mit.edu	37	chr1	86919122	86919122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaaagtggggctttagCcgagtcagctcaggaggctc	16	9	2	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr1:86919122C>T	ENST00000370565.4	+	13	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	742					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2224-2226)agC>agT		chloride channel accessory 2							75	78	77					1																	86919122		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919122C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2226C>T	1.37:g.86919122C>T						CLCA2_ENST00000498802.1_3'UTR	p.S742S	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2388	+		Lung NSC(277;0.238)	742					A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.2226C>T	CCDS708.1																																																																																				0.463	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		4	51	0	0	0	1	0	4	51					T	86919122	C	T	86919122	2	4	283	1	0	0	0	0	0	0	0	1	3458	738	26	2		2	CLCA2	1	86919122	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		86919122	162331499	1	30103											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	76	0	0	0	1	0	15	76					T	209113112	C	T	209113112	3	4	283	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		209113112	34086261	2	30104											
PLSCR2	57047	broad.mit.edu	37	chr3	146173222	146173222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgatttcatacatgTtactactttcaaaactgaat	4	7	3	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:146173222T>C	ENST00000497985.1	-	6	783	c.344A>G	c.(343-345)aAc>aGc	p.N115S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	115					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCATACATGTTACTACTTTC	0.323																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(343-345)aAc>aGc		phospholipid scramblase 2							67	72	71					3																	146173222		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173222T>C		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.344A>G	3.37:g.146173222T>C	ENSP00000420132:p.Asn115Ser					PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S	p.N115S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			6	783	-			42					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.344A>G	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228263	0.58777	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.51574	0.7;0.7;0.7	3.1	3.1	0.35709	.	0.000000	0.38663	U	0.001604	T	0.73916	0.3648	M	0.93462	3.42	0.45946	D	0.998777	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80779	-0.1230	10	0.62326	D	0.03	.	12.3575	0.55184	0.0:0.0:0.0:1.0	.	135;42	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	S	42;134;115;42	ENSP00000338707:N42S;ENSP00000420132:N115S;ENSP00000418444:N42S	ENSP00000338707:N42S	N	-	2	0	PLSCR2	147655912	1.000000	0.71417	0.020000	0.16555	0.007000	0.05969	1.995000	0.40767	1.653000	0.50694	0.455000	0.32223	AAC		0.323	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		5	96	0	0	0	1	0	5	96					C	146173222	T	C	146173222	3	2	283	1	0	0	0	0	1	0	0	0	12110	1725	60	3	565	3	PLSCR2	3	146173222	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		146173222	51849208	3	30105											
PIK3CA	5290	broad.mit.edu	37	chr3	178952073	178952073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatttcatgaaacaaaTgaatgatgcacatcatggtg	10	5	2	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:178952073T>C	ENST00000263967.3	+	21	3285	c.3128T>C	c.(3127-3129)aTg>aCg	p.M1043T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, 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.M1043T(4)		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)	ATGAAACAAATGAATGATGCA	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Substitution - Missense(4)	p.M1043T(4)	ovary(2)|stomach(1)|central_nervous_system(1)	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						c.(3127-3129)aTg>aCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							98	88	91					3																	178952073		1907	4122	6029	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952073T>C		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.3128T>C	3.37:g.178952073T>C	ENSP00000263967:p.Met1043Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3285	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3128T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210682	0.39102	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	N	0.16266	0.395	0.80722	D	1	P	0.37500	0.597	B	0.32624	0.149	T	0.73091	-0.4092	10	0.62326	D	0.03	-20.5202	16.6512	0.85203	0.0:0.0:0.0:1.0	.	1043	P42336	PK3CA_HUMAN	T	1043	ENSP00000263967:M1043T	ENSP00000263967:M1043T	M	+	2	0	PIK3CA	180434767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			18	84	0	0	0	1	0	18	84					C	178952073	T	C	178952073	3	2	283	1	0	0	0	0	1	0	0	0	11913	1464	51	3	3206	3	PIK3CA	3	178952073	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	32778851	178952073	19070357	4	30106											
KDR	3791	broad.mit.edu	37	chr4	55960997	55960997	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttctacatcactgagggaCttctcctccacaaatccaga	5	14	4	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:55960997C>G	ENST00000263923.4	-	21	3238	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	981	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 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 MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGAGGGACTTCTCCTCCA	0.522			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2941-2943)aaG>aaC		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						148	143	144					4																	55960997		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55960997C>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2943G>C	4.37:g.55960997C>G	ENSP00000263923:p.Lys981Asn	TSP Lung(20;0.16)					p.K981N	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3238	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		981			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2943G>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199370	0.58126	.	.	ENSG00000128052	ENST00000263923	T	0.77750	-1.12	5.87	-7.14	0.01527	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.276305	0.40554	N	0.001074	T	0.62612	0.2442	L	0.33339	1.005	0.36586	D	0.873802	P	0.34743	0.466	B	0.33960	0.173	T	0.51044	-0.8755	10	0.23891	T	0.37	.	18.7732	0.91900	0.0:0.6535:0.0:0.3465	.	981	P35968	VGFR2_HUMAN	N	981	ENSP00000263923:K981N	ENSP00000263923:K981N	K	-	3	2	KDR	55655754	0.084000	0.21492	0.854000	0.33618	0.987000	0.75469	-0.690000	0.05138	-1.365000	0.02158	-0.150000	0.13652	AAG		0.522	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			26	123	0	0	0	1	0	26	123					G	55960997	C	G	55960997	3	3	283	1	0	0	0	0	1	0	0	0	8139	564	20	4	1167	4	KDR	4	55960997	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		55960997	135193279	5	30107											
UGT2B11	10720	broad.mit.edu	37	chr4	70070265	70070265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgttatcaggttgaTcaaaaaacaatggaatgccc	9	7	2	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:70070265T>C	ENST00000446444.1	-	5	1201	c.1193A>G	c.(1192-1194)gAt>gGt	p.D398G	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	398					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAGGTTGATCAAAAAACAA	0.448																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1192-1194)gAt>gGt		UDP glucuronosyltransferase 2 family, polypeptide B11							173	167	169					4																	70070265		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070265T>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1193A>G	4.37:g.70070265T>C	ENSP00000387683:p.Asp398Gly					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.D398G	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1201	-			398					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1193A>G	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	7.146	0.582722	0.13749	.	.	ENSG00000213759	ENST00000446444	T	0.80214	-1.35	1.96	1.96	0.26148	.	0.070456	0.53938	U	0.000047	D	0.85071	0.5613	M	0.93375	3.41	0.30570	N	0.763598	P	0.42456	0.78	P	0.45310	0.476	D	0.84157	0.0426	10	0.87932	D	0	.	7.5503	0.27793	0.0:0.0:0.0:1.0	.	398	O75310	UDB11_HUMAN	G	398	ENSP00000387683:D398G	ENSP00000387683:D398G	D	-	2	0	UGT2B11	70104854	1.000000	0.71417	0.227000	0.23927	0.008000	0.06430	6.830000	0.75319	0.898000	0.36418	0.155000	0.16302	GAT		0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		14	211	0	0	0	1	0	14	211					C	70070265	T	C	70070265	3	2	283	1	0	0	0	0	1	0	0	0	16954	1435	50	3	404	3	UGT2B11	4	70070265	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	14109268	70070265	121084011	6	30108											
GAR1	54433	broad.mit.edu	37	chr4	110745576	110745576	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattttctcttaatcagggAgaggacattaagtgaaacag	9	5	2	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:110745576A>G	ENST00000226796.6	+	7	907	c.643A>G	c.(643-645)Aga>Gga	p.R215G	GAR1_ENST00000394631.3_Missense_Mutation_p.R215G	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	215	RGG-box 2.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAATCAGGGAGAGGACATTA	0.328																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(643-645)Aga>Gga		GAR1 ribonucleoprotein							110	104	106					4																	110745576		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110745576A>G	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.643A>G	4.37:g.110745576A>G	ENSP00000226796:p.Arg215Gly					GAR1_ENST00000394631.3_Missense_Mutation_p.R215G	p.R215G	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			7	907	+			215			RGG-box 2.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.643A>G	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906707	0.33628	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	5.1	5.1	0.69264	.	0.271361	0.34906	N	0.003589	T	0.32763	0.0840	N	0.08118	0	0.38204	D	0.940279	B;B	0.33238	0.403;0.281	B;B	0.30855	0.121;0.057	T	0.44544	-0.9321	9	0.72032	D	0.01	.	12.8593	0.57903	1.0:0.0:0.0:0.0	.	197;215	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	G	215	.	ENSP00000226796:R215G	R	+	1	2	GAR1	110965025	0.998000	0.40836	0.995000	0.50966	0.227000	0.25037	4.405000	0.59741	2.146000	0.66826	0.482000	0.46254	AGA		0.328	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			4	65	0	0	0	1	0	4	65					G	110745576	A	G	110745576	3	3	283	1	0	0	0	0	1	0	0	0	6240	296	11	3	665	3	GAR1	4	110745576	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	40675311	110745576	80408700	7	30109											
HEATR7B2	133558	broad.mit.edu	37	chr5	41015559	41015559	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcctgcaaaccctgcagtCtttccacttccaagtgaatg	6	14	1	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:41015559C>A	ENST00000399564.4	-	29	3356	c.2906G>T	c.(2905-2907)aGa>aTa	p.R969I	MROH2B_ENST00000506092.2_Missense_Mutation_p.R524I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	969																	ACCCTGCAGTCTTTCCACTTC	0.413																																						ENST00000399564.4																			0											c.(2905-2907)aGa>aTa		maestro heat-like repeat family member 2B							79	79	79					5																	41015559		1864	4094	5958	SO:0001583	missense	133558							g.chr5:41015559C>A		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.2906G>T	5.37:g.41015559C>A	ENSP00000382476:p.Arg969Ile					MROH2B_ENST00000506092.2_Missense_Mutation_p.R524I	p.R969I	NM_173489.4	NP_775760.3					29	3356	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2906G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169879	0.57584	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.61274	0.12;0.12	5.9	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.34411	U	0.003990	T	0.48095	0.1481	N	0.19112	0.55	0.44595	D	0.997566	D	0.53151	0.958	P	0.51135	0.66	T	0.49163	-0.8968	10	0.62326	D	0.03	.	6.8974	0.24262	0.0:0.8591:0.0:0.1409	.	969	Q7Z745	HTRB2_HUMAN	I	524;674;969	ENSP00000441504:R524I;ENSP00000382476:R969I	ENSP00000296803:R674I	R	-	2	0	HEATR7B2	41051316	0.999000	0.42202	0.903000	0.35520	0.334000	0.28698	1.350000	0.34010	2.806000	0.96561	0.655000	0.94253	AGA		0.413	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		9	36	1	0	0.00621372	1	0.00621372	9	36					A	41015559	C	A	41015559	3	1	283	1	0	0	0	0	1	0	0	0	7035	913	32	4	1907	4	HEATR7B2	5	41015559	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		41015559	139899701	8	30110											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089402	137089402	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccacggtgccaaactgcgaGaagtgctcgatcaggtcgcc	12	13	1	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:137089402G>T	ENST00000314940.4	-	1	637	c.354C>A	c.(352-354)ttC>ttA	p.F118L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	118	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAACTGCGAGAAGTGCTCGA	0.587																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(352-354)ttC>ttA		heterogeneous nuclear ribonucleoprotein A0							77	76	76					5																	137089402		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089402G>T	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.354C>A	5.37:g.137089402G>T	ENSP00000316042:p.Phe118Leu						p.F118L	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	637	-			118			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.354C>A	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401756	0.83120	.	.	ENSG00000177733	ENST00000314940	T	0.43294	0.95	4.97	4.1	0.47936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.67655	0.2916	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.74188	-0.3746	10	0.87932	D	0	.	13.4837	0.61353	0.0766:0.0:0.9234:0.0	.	118	Q13151	ROA0_HUMAN	L	118	ENSP00000316042:F118L	ENSP00000316042:F118L	F	-	3	2	HNRNPA0	137117301	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.546000	0.36179	1.087000	0.41251	0.305000	0.20034	TTC		0.587	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		31	71	1	0	1.06801e-11	1	1.17071e-11	31	71					T	137089402	G	T	137089402	3	4	283	1	0	0	0	0	1	0	0	0	7256	933	33	4	567	4	HNRNPA0	5	137089402	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08	96073843	137089402	43825858	9	30111											
PCDHA3	56145	broad.mit.edu	37	chr5	140181778	140181778	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatcccccaatgtcagaTcactgcacagttctactcga	7	13	3	1	rs548656877		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:140181778T>G	ENST00000522353.2	+	1	996	c.996T>G	c.(994-996)gaT>gaG	p.D332E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	332	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(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)			CAATGTCAGATCACTGCACAG	0.378																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(994-996)gaT>gaG									175	173	174					5																	140181778		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181778T>G	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.996T>G	5.37:g.140181778T>G	ENSP00000429808:p.Asp332Glu					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	p.D332E	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	996	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.996T>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	8.598	0.886161	0.17540	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50277	0.75;0.75	4.79	2.08	0.27032	Cadherin (4);Cadherin-like (1);	0.571421	0.14305	U	0.328016	T	0.31482	0.0798	L	0.31294	0.92	0.09310	N	0.999994	B;B	0.06786	0.001;0.001	B;B	0.21151	0.01;0.033	T	0.27088	-1.0084	10	0.72032	D	0.01	.	3.0934	0.06301	0.2873:0.2595:0.0:0.4532	.	332;332	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	332	ENSP00000429808:D332E;ENSP00000434086:D332E	ENSP00000429808:D332E	D	+	3	2	PCDHA3	140161962	0.000000	0.05858	0.994000	0.49952	0.653000	0.38743	-2.220000	0.01217	0.795000	0.33922	-0.456000	0.05471	GAT		0.378	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		21	99	0	0	0	1	0	21	99					G	140181778	T	G	140181778	3	3	283	1	0	0	0	0	1	0	0	0	11525	1432	50	5	998	5	PCDHA3	5	140181778	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	3092376	140181778	40733482	10	30112											
ARAP3	64411	broad.mit.edu	37	chr5	141035828	141035828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttccaaaggccactcccGttctggtttagagctctgag	9	13	2	2	rs539283748		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:141035828G>A	ENST00000239440.4	-	28	3870	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1269	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCACTCCCGTTCTGGTTTA	0.522																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3805-3807)Cgg>Tgg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							77	83	81					5																	141035828		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035828G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3805C>T	5.37:g.141035828G>A	ENSP00000239440:p.Arg1269Trp					ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W	p.R1269W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			28	3870	-			1269			PH 3.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3805C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957612	0.73902	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.12672	2.66;2.66;2.66	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.058853	0.64402	D	0.000004	T	0.31606	0.0802	L	0.55481	1.735	0.49130	D	0.999755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.969;0.952;0.98	T	0.01172	-1.1429	10	0.87932	D	0	.	13.5137	0.61528	0.0:0.0:0.8435:0.1564	.	931;1100;1269	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	W	1100;1269;931	ENSP00000421826:R1100W;ENSP00000239440:R1269W;ENSP00000421468:R931W	ENSP00000239440:R1269W	R	-	1	2	ARAP3	141016012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.927000	0.48900	2.547000	0.85894	0.591000	0.81541	CGG		0.522	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	111	0	0	0	1	0	7	111					A	141035828	G	A	141035828	3	1	283	1	0	0	0	0	1	0	0	0	840	1144	40	1	853	1	ARAP3	5	141035828	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08	854050	141035828	39879432	11	30113											
HFE	3077	broad.mit.edu	37	chr6	26094421	26094421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctccacaggaggagcCatggggcactacgtcttagc	12	12	2	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:26094421C>T	ENST00000357618.5	+	6	1136	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	HFE_ENST00000353147.5_Silent_p.A158A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000470149.1_Silent_p.A335A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000309234.6_Intron|HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000349999.4_Silent_p.A250A	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	338					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAGGAGCCATGGGGCACT	0.502									Hemochromatosis																													ENST00000357618.5																			0				endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1012-1014)gcC>gcT		hemochromatosis							134	109	117					6																	26094421		2203	4300	6503	SO:0001819	synonymous_variant	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26094421C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.1014C>T	6.37:g.26094421C>T						HFE_ENST00000309234.6_Intron|HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000349999.4_Silent_p.A250A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000470149.1_Silent_p.A335A|HFE_ENST00000353147.5_Silent_p.A158A	p.A338A	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN			6	1136	+			338					B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Silent	SNP	ENST00000357618.5	37	c.1014C>T	CCDS4578.1																																																																																				0.502	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			10	50	0	0	0	1	0	10	50					T	26094421	C	T	26094421	2	4	283	1	0	0	0	0	0	0	0	1	7081	581	21	2		2	HFE	6	26094421	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		26094421	145020646	12	30114											
IP6K3	117283	broad.mit.edu	37	chr6	33690730	33690730	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tggggctctttctggtggttCctgcccatcatagatgacaa	11	10	3	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:33690730C>G	ENST00000293756.4	-	6	1326	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	IP6K3_ENST00000451316.1_Missense_Mutation_p.E334Q	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	334					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|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 hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						TCTGGTGGTTCCTGCCCATCA	0.602																																						ENST00000451316.1																			0				skin(1)	1						c.(1000-1002)Gaa>Caa		inositol hexakisphosphate kinase 3							64	67	66					6																	33690730		2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690730C>G	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1000G>C	6.37:g.33690730C>G	ENSP00000293756:p.Glu334Gln					IP6K3_ENST00000293756.4_Missense_Mutation_p.E334Q	p.E334Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			7	1535	-			334					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.1000G>C	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148935	0.37923	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.14022	2.54;2.54	5.99	1.54	0.23209	.	0.629507	0.15696	N	0.249154	T	0.03871	0.0109	L	0.45581	1.43	0.25927	N	0.98305	B	0.24768	0.111	B	0.23275	0.045	T	0.41698	-0.9494	10	0.17832	T	0.49	-26.5173	11.2071	0.48775	0.0:0.5397:0.3846:0.0757	.	334	Q96PC2	IP6K3_HUMAN	Q	334	ENSP00000398861:E334Q;ENSP00000293756:E334Q	ENSP00000293756:E334Q	E	-	1	0	IP6K3	33798708	1.000000	0.71417	0.931000	0.37212	0.758000	0.43043	3.652000	0.54439	0.373000	0.24621	-0.175000	0.13238	GAA		0.602	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		12	71	0	0	0	1	0	12	71					G	33690730	C	G	33690730	3	3	283	1	0	0	0	0	1	0	0	0	7790	864	30	4	236	4	IP6K3	6	33690730	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	7596309	33690730	137424337	13	30115											
REPS1	85021	broad.mit.edu	37	chr6	139229869	139229869	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtcttttgtgtatgttcatCaacttctggccttaattcat	6	9	5	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:139229869C>G	ENST00000450536.2	-	18	2726	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000258062.5_Missense_Mutation_p.D717H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H|REPS1_ENST00000415951.2_Missense_Mutation_p.D659H			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	718	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTATGTTCATCAACTTCTGGC	0.388																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(2152-2154)Gat>Cat		RALBP1 associated Eps domain containing 1							194	174	181					6																	139229869		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139229869C>G		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2152G>C	6.37:g.139229869C>G	ENSP00000392065:p.Asp718His					REPS1_ENST00000415951.2_Missense_Mutation_p.D659H|REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H|REPS1_ENST00000258062.5_Missense_Mutation_p.D717H	p.D718H			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	18	2726	-			718			Interaction with RALBP1 (By similarity).		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.2152G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.765633|3.765633	0.69878|0.69878	.|.	.|.	ENSG00000135597|ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668|ENST00000478483;ENST00000526022	T;T;T;T;T;T|.	0.30714|.	1.54;1.53;1.52;1.52;1.54;1.52|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.105347|.	0.64402|.	D|.	0.000005|.	T|T	0.39489|0.39489	0.1080|0.1080	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999991|0.999991	P;P;D;P;P|.	0.76494|.	0.937;0.771;0.999;0.895;0.8|.	P;P;D;P;B|.	0.71870|.	0.694;0.498;0.975;0.498;0.417|.	T|T	0.30031|0.30031	-0.9992|-0.9992	10|5	0.59425|.	D|.	0.04|.	-16.7409|-16.7409	19.2467|19.2467	0.93905|0.93905	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	717;666;627;718;659|.	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1|.	.;.;.;REPS1_HUMAN;.|.	H|F	718;691;676;627;717;659;666|96;2	ENSP00000392065:D718H;ENSP00000356635:D691H;ENSP00000434251:D676H;ENSP00000386699:D627H;ENSP00000258062:D717H;ENSP00000397941:D659H|.	ENSP00000258062:D717H|.	D|L	-|-	1|3	0|2	REPS1|REPS1	139271562|139271562	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.896000|0.896000	0.52359|0.52359	7.063000|7.063000	0.76714|0.76714	2.784000|2.784000	0.95788|0.95788	0.585000|0.585000	0.79938|0.79938	GAT|TTG		0.388	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			7	80	0	0	0	1	0	7	80					G	139229869	C	G	139229869	3	3	283	1	0	0	0	0	1	0	0	0	13228	826	29	4	250	4	REPS1	6	139229869	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	105539139	139229869	31885198	14	30116											
BAZ1B	9031	broad.mit.edu	37	chr7	72925148	72925148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttgcacgtccaaatgcGctcactgtacctttccaagc	6	15	2	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:72925148G>A	ENST00000339594.4	-	2	480	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	48	Mediates the tyrosine-protein kinase activity.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCAAATGCGCTCACTGTAC	0.463																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(142-144)Cgc>Tgc		bromodomain adjacent to zinc finger domain, 1B							230	193	205					7																	72925148		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72925148G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.142C>T	7.37:g.72925148G>A	ENSP00000342434:p.Arg48Cys					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C	p.R48C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			2	480	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	48			Mediates the tyrosine-protein kinase activity.|WAC.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.142C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288184	0.80803	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.61158	0.13;0.13	5.5	5.5	0.81552	WSTF/Acf1/Cbp146 (2);	0.056531	0.64402	D	0.000001	T	0.75064	0.3799	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76699	-0.2863	10	0.59425	D	0.04	-15.4419	13.2218	0.59892	0.0:0.0:0.7327:0.2673	.	48	Q9UIG0	BAZ1B_HUMAN	C	48	ENSP00000342434:R48C;ENSP00000385442:R48C	ENSP00000342434:R48C	R	-	1	0	BAZ1B	72563084	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.958000	0.63660	2.748000	0.94277	0.655000	0.94253	CGC		0.463	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		30	87	0	0	0	1	0	30	87					A	72925148	G	A	72925148	3	1	283	1	0	0	0	0	1	0	0	0	1330	1087	38	1	4381	1	BAZ1B	7	72925148	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		72925148	86213515	15	30117											
LIMK1	3984	broad.mit.edu	37	chr7	73513495	73513495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcaagcgtggacttTcagtctccattgaccccccg	9	15	3	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:73513495T>C	ENST00000336180.2	+	5	586	c.535T>C	c.(535-537)Tca>Cca	p.S179P	LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P|LIMK1_ENST00000418310.1_Missense_Mutation_p.S209P|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	179	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GCGTGGACTTTCAGTCTCCAT	0.677																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(625-627)Tca>Cca		LIM domain kinase 1							149	117	128					7																	73513495		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73513495T>C	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.535T>C	7.37:g.73513495T>C	ENSP00000336740:p.Ser179Pro					LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P|LIMK1_ENST00000336180.2_Missense_Mutation_p.S179P	p.S209P			P53667	LIMK1_HUMAN			5	727	+		Lung NSC(55;0.137)	179			PDZ.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.625T>C	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443386	0.83993	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.48	5.48	0.80851	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.71581	2.175	0.80722	D	1	D;P	0.76494	0.999;0.736	D;B	0.75020	0.985;0.445	T	0.56450	-0.7977	10	0.59425	D	0.04	-15.7839	13.5726	0.61856	0.0:0.0:0.0:1.0	.	145;179	B7Z6I8;P53667	.;LIMK1_HUMAN	P	209;179;179;145;145	ENSP00000409717:S209P;ENSP00000336740:S179P;ENSP00000396480:S145P;ENSP00000444452:S145P	ENSP00000336740:S179P	S	+	1	0	LIMK1	73151431	1.000000	0.71417	0.876000	0.34364	0.752000	0.42762	5.833000	0.69349	2.106000	0.64143	0.529000	0.55759	TCA		0.677	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		31	132	0	0	0	1	0	31	132					C	73513495	T	C	73513495	3	2	283	1	0	0	0	0	1	0	0	0	8801	1783	62	3	553	3	LIMK1	7	73513495	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	588347	73513495	85625168	16	30118											
MYOF	26509	broad.mit.edu	37	chr10	95072807	95072807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgccatctttctctgcGtagcatggccaccatccttt	9	15	2	0	rs192250227		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr10:95072807G>A	ENST00000359263.4	-	51	5858	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000371501.4_Silent_p.Y1953Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21475	0.001		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5857-5859)taC>taT		myoferlin							352	336	341					10																	95072807		1935	4132	6067	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072807G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5859C>T	10.37:g.95072807G>A						MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y	p.Y1953Y			Q9NZM1	MYOF_HUMAN			51	5981	-			1953					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5859C>T	CCDS41551.1																																																																																				0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		28	436	0	0	0	1	0	28	436					A	95072807	G	A	95072807	2	1	283	1	0	0	0	0	0	0	0	1	10089	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		95072807	40461940	17	30119											
CCDC88B	283234	broad.mit.edu	37	chr11	64112395	64112395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagcaagcccggctgcgGgaggcagtggaggctgctgg	21	9	0	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:64112395G>A	ENST00000356786.5	+	14	2426	c.2382G>A	c.(2380-2382)cgG>cgA	p.R794R	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	794						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						CCCGGCTGCGGGAGGCAGTGG	0.741																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2380-2382)cgG>cgA		coiled-coil domain containing 88B							8	10	10					11																	64112395		2120	4150	6270	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112395G>A	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.2382G>A	11.37:g.64112395G>A						CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.R794R	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2426	+			794					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.2382G>A	CCDS8072.2																																																																																				0.741	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	6	0	0	0	1	0	3	6					A	64112395	G	A	64112395	2	1	283	1	0	0	0	0	0	0	0	1	2864	1219	43	2		2	CCDC88B	11	64112395	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		64112395	70894121	18	30120											
EP400	57634	broad.mit.edu	37	chr12	132466834	132466834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagtttgcacagcaGccgcaagtggtagaggccca	14	12	0	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr12:132466834G>A	ENST00000333577.4	+	6	1957	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000330386.6_Silent_p.Q580Q|EP400_ENST00000389561.2_Silent_p.Q580Q			Q96L91	EP400_HUMAN	E1A binding protein p400	616					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGCACAGCAGCCGCAAGTGG	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1846-1848)caG>caA		E1A binding protein p400							90	87	88					12																	132466834		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466834G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1848G>A	12.37:g.132466834G>A						EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000330386.6_Silent_p.Q580Q|EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000389561.2_Silent_p.Q580Q	p.Q616Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1957	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	616					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1848G>A																																																																																					0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	99	0	0	0	1	0	18	99					A	132466834	G	A	132466834	2	1	283	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132466834	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		132466834	1385061	19	30121											
CYP4F3	4051	broad.mit.edu	37	chr19	15769595	15769595	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggtcacctctggcttTtattcccttctcagcagggc	11	12	3	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:15769595T>A	ENST00000221307.8	+	12	1420	c.1373T>A	c.(1372-1374)tTt>tAt	p.F458Y	CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.2_Missense_Mutation_p.F458Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	458					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						CCTCTGGCTTTTATTCCCTTC	0.592																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1372-1374)tTt>tAt		cytochrome P450, family 4, subfamily F, polypeptide 3							106	111	109					19																	15769595		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769595T>A	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.1373T>A	19.37:g.15769595T>A	ENSP00000221307:p.Phe458Tyr					CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.1_Missense_Mutation_p.F458Y	p.F458Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			12	1421	+			458					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1373T>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	19.31	3.803662	0.70682	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.68479	-0.33	3.68	3.68	0.42216	.	0.000000	0.64402	U	0.000002	T	0.62962	0.2471	N	0.26092	0.79	0.52501	D	0.999954	B;B;B	0.24823	0.025;0.066;0.112	B;B;B	0.44044	0.17;0.215;0.439	T	0.62609	-0.6818	10	0.42905	T	0.14	.	10.3661	0.44024	0.0:0.0:0.0:1.0	.	168;458;458	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	Y	385;458	ENSP00000221307:F458Y	ENSP00000221307:F458Y	F	+	2	0	CYP4F3	15630595	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.968000	0.63728	1.543000	0.49345	0.254000	0.18369	TTT		0.592	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		7	135	0	0	0	1	0	7	135					A	15769595	T	A	15769595	3	1	283	1	0	0	0	0	1	0	0	0	4190	1841	64	5	1415	5	CYP4F3	19	15769595	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		15769595	43359388	20	30122											
CCDC97	90324	broad.mit.edu	37	chr19	41826329	41826329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagttcaccagccgcAtgcaccagcgcttcctagat	11	13	1	2	rs367824945		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:41826329A>G	ENST00000269967.3	+	4	987	c.865A>G	c.(865-867)Atg>Gtg	p.M289V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	289										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCAGCCGCATGCACCAGCG	0.637																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(865-867)Atg>Gtg		coiled-coil domain containing 97		A	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	101	86	91		865	4.5	1	19		91	0,8600		0,0,4300	no	missense	CCDC97	NM_052848.1	21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	289/344	41826329	1,13005	2203	4300	6503	SO:0001583	missense	90324							g.chr19:41826329A>G	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.865A>G	19.37:g.41826329A>G	ENSP00000269967:p.Met289Val						p.M289V	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			4	987	+			289					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.865A>G	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362219	0.82353	2.27E-4	0.0	ENSG00000142039	ENST00000269967	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.83483	2.645	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.82448	-0.0452	9	0.72032	D	0.01	-17.893	12.8463	0.57831	1.0:0.0:0.0:0.0	.	289	Q96F63	CCD97_HUMAN	V	289	.	ENSP00000269967:M289V	M	+	1	0	CCDC97	46518169	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.667000	0.83888	1.874000	0.54306	0.379000	0.24179	ATG		0.637	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		10	44	0	0	0	1	0	10	44					G	41826329	A	G	41826329	3	3	283	1	0	0	0	0	1	0	0	0	2875	217	8	3	879	3	CCDC97	19	41826329	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	26056734	41826329	17302654	21	30123											
PRKCG	5582	broad.mit.edu	37	chr19	54395814	54395814	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgtggaggtgtgggaCtgggaccggacctcccgcaa	16	12	1	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:54395814C>G	ENST00000263431.3	+	7	1020	c.738C>G	c.(736-738)gaC>gaG	p.D246E	PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E|PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	246	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	AGGTGTGGGACTGGGACCGGA	0.672																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(736-738)gaC>gaG		protein kinase C, gamma							57	43	48					19																	54395814		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395814C>G	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.738C>G	19.37:g.54395814C>G	ENSP00000263431:p.Asp246Glu					PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E|PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E	p.D246E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1020	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		246			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.738C>G	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026307	0.54683	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.24	0.842	0.18927	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.69620	0.3131	M	0.75615	2.305	0.40199	D	0.977496	P;P;D;D;B	0.89917	0.601;0.542;1.0;0.963;0.226	B;P;D;P;B	0.76575	0.288;0.517;0.988;0.839;0.339	T	0.68021	-0.5519	9	0.56958	D	0.05	.	7.0799	0.25225	0.0:0.67:0.0:0.33	.	133;246;246;246;246	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	E	246;246;246;133	ENSP00000440541:D246E;ENSP00000443493:D246E;ENSP00000263431:D246E;ENSP00000438090:D133E	ENSP00000263431:D246E	D	+	3	2	PRKCG	59087626	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	2.136000	0.42121	0.333000	0.23563	-0.266000	0.10368	GAC		0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	19	0	0	0	1	0	4	19					G	54395814	C	G	54395814	3	3	283	1	0	0	0	0	1	0	0	0	12512	564	20	4	764	4	PRKCG	19	54395814	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	12569485	54395814	4733169	22	30124											
NFATC2	4773	broad.mit.edu	37	chr20	50139839	50139839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggggggatcccacaaggcGagtccgtggcgaggctgttc	18	10	0	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr20:50139839G>A	ENST00000396009.3	-	2	1160	c.941C>T	c.(940-942)tCg>tTg	p.S314L	NFATC2_ENST00000610033.1_Missense_Mutation_p.S95L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S294L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S95L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S314L	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	314					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)					CCCACAAGGCGAGTCCGTGGC	0.687																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(940-942)tCg>tTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							17	22	20					20																	50139839		2197	4293	6490	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139839G>A	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.941C>T	20.37:g.50139839G>A	ENSP00000379330:p.Ser314Leu					NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S314L	p.S314L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	1160	-	Hepatocellular(150;0.248)		314					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.941C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931569	0.34096	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.15603	2.41;2.42;2.42	5.67	5.67	0.87782	.	0.263584	0.38326	N	0.001721	T	0.14313	0.0346	L	0.34521	1.04	0.28413	N	0.918071	B;B;B;B	0.29909	0.242;0.261;0.242;0.242	B;B;B;B	0.21708	0.036;0.024;0.036;0.036	T	0.09509	-1.0671	10	0.51188	T	0.08	-9.1617	14.5976	0.68417	0.0:0.0:0.8541:0.1459	.	294;294;314;314	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	314;314;95;294	ENSP00000360619:S314L;ENSP00000379330:S314L;ENSP00000396471:S294L	ENSP00000360619:S314L	S	-	2	0	NFATC2	49573246	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	4.132000	0.57977	2.680000	0.91292	0.305000	0.20034	TCG		0.687	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	21	0	0	0	1	0	5	21					A	50139839	G	A	50139839	3	1	283	1	0	0	0	0	1	0	0	0	10362	1059	37	1	1920	1	NFATC2	20	50139839	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		50139839	12885681	23	30125											
BTG3	10950	broad.mit.edu	37	chr21	18966541	18966541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatttggataaccaaatGgaacaggaggaggatagtga	13	5	0	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr21:18966541G>A	ENST00000348354.6	-	5	885	c.629C>T	c.(628-630)cCa>cTa	p.P210L	BTG3_ENST00000339775.6_Missense_Mutation_p.P254L	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	210					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ATAACCAAATGGAACAGGAGG	0.458																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(760-762)cCa>cTa		BTG family, member 3							145	127	133					21																	18966541		2203	4299	6502	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18966541G>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.629C>T	21.37:g.18966541G>A	ENSP00000284879:p.Pro210Leu					BTG3_ENST00000348354.6_Missense_Mutation_p.P210L	p.P254L	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	6	914	-			210					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.761C>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945287	0.34283	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	4.12	4.12	0.48240	.	0.596067	0.16016	N	0.233545	T	0.46737	0.1408	N	0.14661	0.345	0.38541	D	0.949229	P;D	0.64830	0.6;0.994	B;P	0.62885	0.233;0.908	T	0.28618	-1.0038	9	0.02654	T	1	-3.403	12.1744	0.54178	0.0:0.0:1.0:0.0	.	254;210	Q14201-2;Q14201	.;BTG3_HUMAN	L	254;210	.	ENSP00000344609:P254L	P	-	2	0	BTG3	17888412	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.169000	0.58223	2.587000	0.87381	0.591000	0.81541	CCA		0.458	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		5	67	0	0	0	1	0	5	67					A	18966541	G	A	18966541	3	1	283	1	0	0	0	0	1	0	0	0	1555	1348	47	2	133	2	BTG3	21	18966541	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		18966541	29163354	24	30126											
SAMM50	25813	broad.mit.edu	37	chr22	44377307	44377307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggcggaatgttggtaCccattggtgataagccgtca	14	8	2	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr22:44377307C>T	ENST00000350028.4	+	11	1130	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	325					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AATGTTGGTACCCATTGGTGA	0.388																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(973-975)Ccc>Tcc		SAMM50 sorting and assembly machinery component							215	191	199					22																	44377307		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44377307C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.973C>T	22.37:g.44377307C>T	ENSP00000345445:p.Pro325Ser					SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	p.P325S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			11	1130	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	325					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.973C>T	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669612	0.47677	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.41065	1.01;1.01	4.95	4.95	0.65309	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.54323	1.7	0.80722	D	1	B;B	0.32968	0.392;0.387	B;B	0.35859	0.173;0.212	T	0.19976	-1.0289	10	0.21014	T	0.42	-27.2941	15.7342	0.77831	0.0:1.0:0.0:0.0	.	130;325	B3KUE6;Q9Y512	.;SAM50_HUMAN	S	325;115	ENSP00000345445:P325S;ENSP00000379505:P115S	ENSP00000345445:P325S	P	+	1	0	SAMM50	42708640	1.000000	0.71417	0.983000	0.44433	0.514000	0.34195	4.664000	0.61540	2.458000	0.83093	0.557000	0.71058	CCC		0.388	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		6	75	0	0	0	1	0	6	75					T	44377307	C	T	44377307	3	4	283	1	0	0	0	0	1	0	0	0	13829	507	18	2	1015	2	SAMM50	22	44377307	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		44377307	6927259	25	30127											
ZNF645	158506	broad.mit.edu	37	chrX	22291314	22291314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctattaaaatctatgggcGaataattccgtgcaagcatg	9	8	1	0	rs571107659		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(205-207)cGa>cAa		zinc finger protein 645							70	65	67					X																	22291314		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291314G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.206G>A	X.37:g.22291314G>A	ENSP00000323348:p.Arg69Gln						p.R69Q	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	250	+			69					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.206G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595259	0.66219	.	.	ENSG00000175809	ENST00000323684	T	0.59364	0.27	3.23	0.391	0.16282	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	U	0.000001	T	0.52075	0.1712	M	0.72894	2.215	0.33244	D	0.557639	D	0.55172	0.97	P	0.44732	0.459	T	0.61407	-0.7069	10	0.87932	D	0	.	4.5768	0.12238	0.2382:0.1823:0.5795:0.0	.	69	Q8N7E2	ZN645_HUMAN	Q	69	ENSP00000323348:R69Q	ENSP00000323348:R69Q	R	+	2	0	ZNF645	22201235	0.111000	0.22076	0.002000	0.10522	0.374000	0.29953	1.423000	0.34837	-0.026000	0.13895	0.436000	0.28706	CGA		0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		24	93	0	0	0	1	0	24	93					A	22291314	G	A	22291314	3	1	283	1	0	0	0	0	1	0	0	0	18058	1058	37	1	208	1	ZNF645	23	22291314	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		22291314	132979246	26	30128											
DGKK	139189	broad.mit.edu	37	chrX	50127815	50127815	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgtctgctttcctcAtccagagctatagagaaaag	8	9	3	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50127815A>C	ENST00000376025.2	-	0	2414							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)					TGCTTTCCTCATCCAGAGCTA	0.453																																						ENST00000376025.2																			0				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								diacylglycerol kinase, kappa							92	84	87					X																	50127815		1864	4088	5952			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50127815A>C	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.50127815A>C										Q5KSL6	DGKK_HUMAN			0	2414	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.453	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		13	92	0	0	0	1	0	13	92					C	50127815	A	C	50127815	1	2	283	0	1	0	0	0	0	0	0	0	4472	214	8	5		5	DGKK	23	50127815	RNA	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27836501	50127815	105142745	27	30129											
SHROOM4	57477	broad.mit.edu	37	chrX	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G													ggtcatgggttcctcctgtaINSggggggcatggacttttctt							TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50377684_50377685insG	ENST00000289292.7	-	4	1671_1672	c.1388_1389insC	c.(1387-1389)cctfs	p.P463fs	SHROOM4_ENST00000376020.2_Frame_Shift_Ins_p.P463fs|SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.P347fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					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)					TTCCTCCTGTAGGGGGGCATGG	0.554																																						ENST00000376020.2																			0				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						c.(1387-1389)cacfs		shroom family member 4																																				SO:0001589	frameshift_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377684_50377685insG	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.1389dupC	X.37:g.50377690_50377690dupG	ENSP00000289292:p.Pro463fs					SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.H347fs|SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.H463fs	p.H463fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1413_1414	-	Ovarian(276;0.236)		463					A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Ins	INS	ENST00000289292.7	37	c.1388_1389insC	CCDS35277.1																																																																																				0.554	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		13	135						13	135	---	---	---	---	G	50377685	-	G	50377684	7	5	283	1	0	1	1	0	0	0	0	0	14296	407	15	0	3116	0	SHROOM4	23	50377684	Frame_Shift_Ins	INS	-	TCGA-HT-7874-01A-11D-2395-08	249869	50377684	104892876	28	30130											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913195	77913195	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatctccactgaaggttaaAgtgtattgcagggggaaatc	12	6	1	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:77913195A>T	ENST00000321110.1	-	2	1018	c.723T>A	c.(721-723)acT>acA	p.T241T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	241							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						TGAAGGTTAAAGTGTATTGCA	0.502																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(721-723)acT>acA		zinc finger, CCHC domain containing 5							26	25	25					X																	77913195		2203	4300	6503	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913195A>T	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.723T>A	X.37:g.77913195A>T							p.T241T	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1018	-			241					B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.723T>A	CCDS14440.1																																																																																				0.502	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		9	33	0	0	0	1	0	9	33					T	77913195	A	T	77913195	2	4	283	1	0	0	0	0	0	0	0	1	17588	59	3	5		5	ZCCHC5	23	77913195	Silent	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27535511	77913195	77357365	29	30131											
PCDH19	57526	broad.mit.edu	37	chrX	99662610	99662610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctgacggtgaccttgcagTgtgccgggatggaattgggc	17	9	0	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:99662610T>C	ENST00000373034.4	-	1	2661	c.986A>G	c.(985-987)cAc>cGc	p.H329R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	329	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						GACCTTGCAGTGTGCCGGGAT	0.592																																						ENST00000373034.4																			0				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						c.(985-987)cAc>cGc		protocadherin 19							47	52	50					X																	99662610		2189	4272	6461	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662610T>C	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.986A>G	X.37:g.99662610T>C	ENSP00000362125:p.His329Arg					PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R	p.H329R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2661	-			329			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.986A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546931	0.65198	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.48836	0.8;0.8;0.8	5.65	5.65	0.86999	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.65619	-0.6124	10	0.42905	T	0.14	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	329;329;329	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	R	329	ENSP00000400327:H329R;ENSP00000362125:H329R;ENSP00000255531:H329R	ENSP00000255531:H329R	H	-	2	0	PCDH19	99549266	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.997000	0.88414	1.995000	0.58328	0.417000	0.27973	CAC		0.592	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		18	64	0	0	0	1	0	18	64					C	99662610	T	C	99662610	3	2	283	1	0	0	0	0	1	0	0	0	11514	1696	59	3	2484	3	PCDH19	23	99662610	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	21749415	99662610	55607950	30	30132											
MAGEC1	9947	broad.mit.edu	37	chrX	140994428	140994428	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctctccagattcctatgaCctcctccttctcctctactt	2	18	3	2	rs201520870		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:140994428C>A	ENST00000285879.4	+	4	1524	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	413										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTATGACCTCCTCCTTC	0.463										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1237-1239)aCc>aAc		melanoma antigen family C, 1							117	128	124					X																	140994428		2198	4290	6488	SO:0001583	missense	9947						protein binding	g.chrX:140994428C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1238C>A	X.37:g.140994428C>A	ENSP00000285879:p.Thr413Asn	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.T413N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1524	+	Acute lymphoblastic leukemia(192;6.56e-05)		413					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1238C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.302443	0.00243	.	.	ENSG00000155495	ENST00000285879	T	0.02421	4.3	.	.	.	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.45891	-0.9230	7	0.49607	T	0.09	.	.	.	.	.	413	O60732	MAGC1_HUMAN	N	413	ENSP00000285879:T413N	ENSP00000285879:T413N	T	+	2	0	MAGEC1	140822094	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.523000	0.00949	-1.935000	0.01049	-1.943000	0.00494	ACC		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		11	316	1	0	2.80697e-09	1	3.01882e-09	11	316					A	140994428	C	A	140994428	3	1	283	1	0	0	0	0	1	0	0	0	9180	507	18	4	1244	4	MAGEC1	23	140994428	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	41331818	140994428	14276132	31	30133											
TCEB3	6924	broad.mit.edu	37	chr1	24080638	24080638	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctggatttactgggcgcaGaatgaattccaagatgcagg	13	7	0	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:24080638G>A	ENST00000418390.2	+	6	1935	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	TCEB3_ENST00000609199.1_Missense_Mutation_p.R529K	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	555	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		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;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTGGGCGCAGAATGAATTCC	0.448																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1663-1665)aGa>aAa		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							130	117	121					1																	24080638		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080638G>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1664G>A	1.37:g.24080638G>A	ENSP00000395574:p.Arg555Lys						p.R555K	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	6	1935	+		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)	555			Activation domain (By similarity).		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1664G>A	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	36	5.843942	0.97016	.	.	ENSG00000011007	ENST00000418390	T	0.10192	2.9	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000005	T	0.38825	0.1055	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.16276	-1.0408	10	0.87932	D	0	-22.1753	19.854	0.96750	0.0:0.0:1.0:0.0	.	555	Q14241	ELOA1_HUMAN	K	555	ENSP00000395574:R555K	ENSP00000395574:R555K	R	+	2	0	TCEB3	23953225	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.835000	0.99442	2.699000	0.92147	0.462000	0.41574	AGA		0.448	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		45	7	0	0	0	1	0	45	7					A	24080638	G	A	24080638	3	1	284	1	0	0	0	0	1	0	0	0	15678	942	33	2	1686	2	TCEB3	1	24080638	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		24080638	225169983	1	30134											
ZNF683	257101	broad.mit.edu	37	chr1	26691295	26691295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagggtctcccaccgagCgctggggtgccccagctcat	13	15	2	0	rs144078461|rs372936882	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:26691295C>T	ENST00000436292.1	-	4	862	c.742G>A	c.(742-744)Gct>Act	p.A248T	ZNF683_ENST00000374204.1_Missense_Mutation_p.A248T|ZNF683_ENST00000349618.3_Missense_Mutation_p.A248T|ZNF683_ENST00000403843.1_Missense_Mutation_p.A248T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	248					natural killer cell differentiation (GO:0001779)|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.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCCCACCGAGCGCTGGGGTGC	0.642																																						ENST00000436292.1																			2	Deletion - In frame(2)	p.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)	large_intestine(2)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(742-744)Gct>Act		zinc finger protein 683							33	44	40					1																	26691295		1996	4267	6263	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691295C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.742G>A	1.37:g.26691295C>T	ENSP00000388792:p.Ala248Thr					ZNF683_ENST00000403843.1_Missense_Mutation_p.A248T|ZNF683_ENST00000374204.1_Missense_Mutation_p.A248T|ZNF683_ENST00000349618.3_Missense_Mutation_p.A248T	p.A248T			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	862	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	248					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.742G>A		.	.	.	.	.	.	.	.	.	.	C	1.905	-0.452032	0.04540	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801	T;T;T;T;T;T	0.19394	3.01;3.01;2.98;2.98;2.15;2.16	4.74	-9.48	0.00591	.	1.566820	0.03789	N	0.262592	T	0.08447	0.0210	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.22277	-1.0221	10	0.19147	T	0.46	-5.0E-4	0.9764	0.01426	0.1715:0.2424:0.2243:0.3618	.	248;248	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	T	248;248;248;248;256;248	ENSP00000384782:A248T;ENSP00000388792:A248T;ENSP00000363320:A248T;ENSP00000344095:A248T;ENSP00000411289:A256T;ENSP00000411290:A248T	ENSP00000344095:A248T	A	-	1	0	ZNF683	26563882	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.393000	0.02521	-3.454000	0.00160	-2.069000	0.00389	GCT		0.642	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		51	7	0	0	0	1	0	51	7					T	26691295	C	T	26691295	3	4	284	1	0	0	0	0	1	0	0	0	18087	768	27	1	784	1	ZNF683	1	26691295	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2610657	26691295	222559326	2	30135											
FLG	2312	broad.mit.edu	37	chr1	152286155	152286155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcagatgaagcttgccCgcgcccagtggctgagtgtc	14	12	0	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:152286155C>T	ENST00000368799.1	-	3	1242	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	403	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)			GAAGCTTGCCCGCGCCCAGTG	0.562									Ichthyosis																													ENST00000368799.1																			0				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						c.(1207-1209)Ggg>Agg		filaggrin							240	244	243					1																	152286155		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286155C>T	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.1207G>A	1.37:g.152286155C>T	ENSP00000357789:p.Gly403Arg					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G403R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1242	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		403			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1207G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.65	1.702544	0.30232	.	.	ENSG00000143631	ENST00000368799	T	0.04015	3.73	4.17	0.0271	0.14153	.	.	.	.	.	T	0.03915	0.0110	L	0.41824	1.3	0.09310	N	1	D	0.69078	0.997	D	0.73708	0.981	T	0.35025	-0.9805	9	0.46703	T	0.11	.	3.9384	0.09316	0.0:0.5099:0.1784:0.3117	.	403	P20930	FILA_HUMAN	R	403	ENSP00000357789:G403R	ENSP00000357789:G403R	G	-	1	0	FLG	150552779	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.689000	0.05144	-0.081000	0.12662	0.499000	0.49734	GGG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		116	499	0	0	0	1	0	116	499					T	152286155	C	T	152286155	3	4	284	1	0	0	0	0	1	0	0	0	5922	652	23	1	10982	1	FLG	1	152286155	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	125594860	152286155	96964466	3	30136											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	12	9	2	1	rs149372418	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299	234	256		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		4	82	0	0	0	1	0	4	82					A	168510202	G	A	168510202	2	1	284	1	0	0	0	0	0	0	0	1	17421	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16224047	168510202	80740419	4	30137											
ARID4B	51742	broad.mit.edu	37	chr1	235345098	235345098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccagtggttctgatactgTtacagaagactgctgccggc	12	10	1	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:235345098T>C	ENST00000264183.3	-	20	3633	c.3136A>G	c.(3136-3138)Aca>Gca	p.T1046A	ARID4B_ENST00000366603.2_Missense_Mutation_p.T1046A|ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.T960A	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1046					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGATACTGTTACAGAAGAC	0.473																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(3136-3138)Aca>Gca		AT rich interactive domain 4B (RBP1-like)							103	89	94					1																	235345098		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345098T>C	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3136A>G	1.37:g.235345098T>C	ENSP00000264183:p.Thr1046Ala					ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000366603.2_Missense_Mutation_p.T1046A|ARID4B_ENST00000349213.3_Missense_Mutation_p.T960A	p.T1046A	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3633	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1046					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.3136A>G	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	T	3.856	-0.030776	0.07543	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.21543	2.0;2.0;2.0	4.92	3.78	0.43462	.	0.426958	0.24022	N	0.042279	T	0.08626	0.0214	N	0.03115	-0.41	0.18873	N	0.999983	B;B;B;B	0.12013	0.001;0.001;0.005;0.0	B;B;B;B	0.12156	0.004;0.003;0.007;0.001	T	0.20338	-1.0278	10	0.49607	T	0.09	-12.911	5.7446	0.18112	0.2614:0.0741:0.0:0.6645	.	727;1046;960;1046	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	A	1046;960;1046;1046	ENSP00000264184:T960A;ENSP00000355562:T1046A;ENSP00000264183:T1046A	ENSP00000264183:T1046A	T	-	1	0	ARID4B	233411721	0.213000	0.23551	0.397000	0.26308	0.980000	0.70556	0.429000	0.21412	0.873000	0.35799	0.477000	0.44152	ACA		0.473	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		34	28	0	0	0	1	0	34	28					C	235345098	T	C	235345098	3	2	284	1	0	0	0	0	1	0	0	0	920	1725	60	3	822	3	ARID4B	1	235345098	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	66834896	235345098	13905523	5	30138											
TPO	7173	broad.mit.edu	37	chr2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcaccttggatctggCgtccatcaacctgcagaggg	11	13	2	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:1491722C>A	ENST00000345913.4	+	10	1818	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E|TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000349624.3_Missense_Mutation_p.A403E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A576E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	576					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.A576E(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)	TTGGATCTGGCGTCCATCAAC	0.592																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.A576E(1)	ovary(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						c.(1726-1728)gCg>gAg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						116	103	107					2																	1491722		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1491722C>A		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.1727C>A	2.37:g.1491722C>A	ENSP00000318820:p.Ala576Glu					TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A403E|TPO_ENST00000337415.3_Missense_Mutation_p.A576E|TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E	p.A576E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	10	1818	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	576					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1727C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824933	0.90955	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.79784	0.98;0.991;0.993	D	0.93095	0.6503	10	0.87932	D	0	-23.2278	17.8262	0.88666	0.0:1.0:0.0:0.0	.	576;403;576	P07202-4;P07202-5;P07202	.;.;PERT_HUMAN	E	576;576;576;403;576;403;505	ENSP00000337263:A576E;ENSP00000318820:A576E;ENSP00000263886:A576E;ENSP00000332044:A403E;ENSP00000329869:A576E;ENSP00000371633:A403E;ENSP00000405788:A505E	ENSP00000329869:A576E	A	+	2	0	TPO	1470729	0.998000	0.40836	0.922000	0.36590	0.923000	0.55619	3.799000	0.55529	2.191000	0.70037	0.591000	0.81541	GCG		0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		59	63	1	0	2.44813e-32	1	2.66415e-32	59	63					A	1491722	C	A	1491722	3	1	284	1	0	0	0	0	1	0	0	0	16407	768	27	4	1761	4	TPO	2	1491722	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		1491722	241707651	6	30139											
MBD5	55777	broad.mit.edu	37	chr2	149227787	149227787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctttaagaggggaagccGtgcactgccacaatgcaaac	10	11	0	1	rs377604964		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:149227787G>A	ENST00000407073.1	+	9	3272	c.2275G>A	c.(2275-2277)Gtg>Atg	p.V759M	MBD5_ENST00000404807.1_Missense_Mutation_p.V759M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	759					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)		AGGGGAAGCCGTGCACTGCCA	0.448																																						ENST00000407073.1																			0				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						c.(2275-2277)Gtg>Atg		methyl-CpG binding domain protein 5		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	117	108	111		2275	2.2	1	2		111	2,8598	2.2+/-6.3	0,2,4298	no	missense	MBD5	NM_018328.4	21	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	759/1495	149227787	3,13003	2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227787G>A	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.2275G>A	2.37:g.149227787G>A	ENSP00000386049:p.Val759Met					MBD5_ENST00000404807.1_Missense_Mutation_p.V759M	p.V759M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3272	+			759					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2275G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238426	0.01493	2.27E-4	2.33E-4	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.46063	0.9;0.88	4.96	2.2	0.27929	.	0.333204	0.25132	N	0.032887	T	0.16685	0.0401	N	0.04508	-0.205	0.31434	N	0.672803	B;B	0.14805	0.001;0.011	B;B	0.09377	0.0;0.004	T	0.06058	-1.0848	10	0.34782	T	0.22	-0.1977	3.7052	0.08398	0.3658:0.1814:0.4529:0.0	.	759;759	Q9P267-2;Q9P267	.;MBD5_HUMAN	M	759	ENSP00000386049:V759M;ENSP00000384672:V759M	ENSP00000384672:V759M	V	+	1	0	MBD5	148944257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.878000	0.28126	0.812000	0.34326	0.655000	0.94253	GTG		0.448	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			51	57	0	0	0	1	0	51	57					A	149227787	G	A	149227787	3	1	284	1	0	0	0	0	1	0	0	0	9347	1145	40	1	2289	1	MBD5	2	149227787	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	147736065	149227787	93971586	7	30140											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	47	0	0	0	1	0	25	47					T	209113112	C	T	209113112	3	4	284	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	59885325	209113112	34086261	8	30141											
FAM124B	79843	broad.mit.edu	37	chr2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggtagcactgccatggcGaatgctggagagagtccagg	17	8	0	1	rs181816086		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:225266211G>A	ENST00000409685.3	-	1	540	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_ENST00000389874.3_Missense_Mutation_p.S92L|FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	92										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18416	0.0		0.0	False		,,,				2504	0.0					ENST00000389874.3																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(274-276)tCg>tTg		family with sequence similarity 124B							60	56	57					2																	225266211		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266211G>A	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.275C>T	2.37:g.225266211G>A	ENSP00000386895:p.Ser92Leu					FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000409685.3_Missense_Mutation_p.S92L	p.S92L	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	500	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	92					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.275C>T	CCDS46527.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.33	2.502052	0.44455	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.44881	0.91;0.91;0.91	5.69	4.81	0.61882	.	0.273838	0.41938	D	0.000784	T	0.27798	0.0684	N	0.22421	0.69	0.25126	N	0.990606	P;P	0.47106	0.89;0.89	B;B	0.34418	0.182;0.088	T	0.15780	-1.0425	10	0.72032	D	0.01	-1.9118	15.3105	0.74028	0.0:0.1794:0.8206:0.0	.	92;92	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	L	92	ENSP00000374524:S92L;ENSP00000386895:S92L;ENSP00000243806:S92L	ENSP00000243806:S92L	S	-	2	0	FAM124B	224974455	1.000000	0.71417	0.152000	0.22495	0.155000	0.21991	7.377000	0.79668	1.399000	0.46721	0.655000	0.94253	TCG		0.582	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		31	36	0	0	0	1	0	31	36					A	225266211	G	A	225266211	3	1	284	1	0	0	0	0	1	0	0	0	5426	1059	37	1	1191	1	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16153099	225266211	17933162	9	30142											
IQSEC1	9922	broad.mit.edu	37	chr3	12977072	12977072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctgagcgtctgctcccGcaggctgtcacgggacgatg	14	13	2	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:12977072G>A	ENST00000273221.4	-	3	1702	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	496					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGCTCCCGCAGGCTGTCA	0.582																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1486-1488)Cgg>Tgg		IQ motif and Sec7 domain 1							153	135	141					3																	12977072		2202	4300	6502	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977072G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1486C>T	3.37:g.12977072G>A	ENSP00000273221:p.Arg496Trp						p.R496W	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	1702	-			496					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.1486C>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.420584|3.420584	0.62622|0.62622	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.45276	.|0.9;0.9	4.58|4.58	3.69|3.69	0.42338|0.42338	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61135|0.61135	0.2323|0.2323	.|.	.|.	.|.	0.51482|0.51482	D|D	0.999927|0.999927	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.72075	.|0.974;0.974;0.976	T|T	0.63598|0.63598	-0.6601|-0.6601	4|9	.|0.66056	.|D	.|0.02	.|.	9.3906|9.3906	0.38370|0.38370	0.0:0.1302:0.6666:0.2032|0.0:0.1302:0.6666:0.2032	.|.	.|482;482;496	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|W	496|496;482;482	.|ENSP00000273221:R496W;ENSP00000402299:R482W	.|ENSP00000273221:R496W	A|R	-|-	2|1	0|2	IQSEC1|IQSEC1	12952072|12952072	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.342000|1.342000	0.33919|0.33919	1.124000|1.124000	0.41980|0.41980	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.582	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		4	128	0	0	0	1	0	4	128					A	12977072	G	A	12977072	3	1	284	1	0	0	0	0	1	0	0	0	7817	1086	38	1	1998	1	IQSEC1	3	12977072	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		12977072	185045358	10	30143											
COL7A1	1294	broad.mit.edu	37	chr3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccacctcaccttctcgcctCgcggccctggcagtcctcgg	9	21	2	0	rs201011691		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:48609570C>T	ENST00000328333.8	-	90	7120	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2338	Triple-helical region.				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)	p.R2338Q(1)		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)		CTTCTCGCCTCGCGGCCCTGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17445	0.0		0.001	False		,,,				2504	0.0					ENST00000328333.8																			1	Substitution - Missense(1)	p.R2338Q(1)	urinary_tract(1)	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						c.(7012-7014)cGa>cAa		collagen, type VII, alpha 1							38	33	35					3																	48609570		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48609570C>T	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.7013G>A	3.37:g.48609570C>T	ENSP00000332371:p.Arg2338Gln					COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	p.R2338Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	90	7120	-			2338			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7013G>A	CCDS2773.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.23	1.875940	0.33162	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93307	-3.2;-3.2	6.07	6.07	0.98685	.	0.000000	0.42821	D	0.000651	D	0.91287	0.7253	N	0.16201	0.385	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	D	0.83377	0.0010	10	0.22109	T	0.4	.	12.4372	0.55606	0.0:0.9178:0.0:0.0822	.	2338	Q02388	CO7A1_HUMAN	Q	2338;2306	ENSP00000332371:R2338Q;ENSP00000412569:R2306Q	ENSP00000332371:R2338Q	R	-	2	0	COL7A1	48584574	0.000000	0.05858	0.908000	0.35775	0.637000	0.38172	0.365000	0.20348	2.884000	0.98904	0.655000	0.94253	CGA		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		25	29	0	0	0	1	0	25	29					T	48609570	C	T	48609570	3	4	284	1	0	0	0	0	1	0	0	0	3704	884	31	1	1937	1	COL7A1	3	48609570	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	35632498	48609570	149412860	11	30144											
UBA7	7318	broad.mit.edu	37	chr3	49848836	49848836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggctcttcctctgtcCgcttcagtggttccaggtcc	10	15	3	0	rs12486358	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:49848836C>T	ENST00000333486.3	-	9	1150	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	331	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)		ttccTCTGTCCGCTTCAGTGG	0.602																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(991-993)cGg>cAg		ubiquitin-like modifier activating enzyme 7							108	82	91					3																	49848836		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49848836C>T	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.992G>A	3.37:g.49848836C>T	ENSP00000333266:p.Arg331Gln						p.R331Q	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	9	1150	-			331			2 approximate repeats.		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.992G>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	4.743	0.138237	0.09083	.	.	ENSG00000182179	ENST00000333486	T	0.28895	1.59	5.36	2.62	0.31277	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.827450	0.11496	N	0.558212	T	0.12518	0.0304	N	0.04787	-0.16	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36138	-0.9760	10	0.11794	T	0.64	-6.9979	5.4915	0.16779	0.0:0.6626:0.1635:0.1739	rs12486358;rs52827209;rs12486358	331	P41226	UBA7_HUMAN	Q	331	ENSP00000333266:R331Q	ENSP00000333266:R331Q	R	-	2	0	UBA7	49823840	0.063000	0.20901	0.010000	0.14722	0.373000	0.29922	1.338000	0.33873	0.405000	0.25532	-0.215000	0.12644	CGG		0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		5	34	0	0	0	1	0	5	34					T	49848836	C	T	49848836	3	4	284	1	0	0	0	0	1	0	0	0	16830	652	23	1	2110	1	UBA7	3	49848836	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	1239266	49848836	148173594	12	30145											
VGLL3	389136	broad.mit.edu	37	chr3	87018080	87018080	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcagacacagcagggggAggggctgggccagtctgatg	18	9	2	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:87018080A>G	ENST00000398399.2	-	3	960	c.597T>C	c.(595-597)ccT>ccC	p.P199P	VGLL3_ENST00000383698.3_Silent_p.P199P	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)		CAGCAGGGGGAGGGGCTGGGC	0.587																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(595-597)ccT>ccC		vestigial like 3 (Drosophila)							71	74	73					3																	87018080		2084	4227	6311	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018080A>G	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.597T>C	3.37:g.87018080A>G						VGLL3_ENST00000383698.3_Silent_p.P199P	p.P199P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	960	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	199						Silent	SNP	ENST00000398399.2	37	c.597T>C	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	A	7.174	0.588142	0.13812	.	.	ENSG00000206538	ENST00000494229	.	.	.	5.81	3.27	0.37495	.	.	.	.	.	T	0.60470	0.2271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57177	-0.7856	4	.	.	.	-10.0885	10.7033	0.45939	0.7387:0.0:0.0:0.2613	.	.	.	.	P	133	.	.	S	-	1	0	VGLL3	87100770	0.995000	0.38212	1.000000	0.80357	0.764000	0.43329	0.314000	0.19432	0.988000	0.38734	0.418000	0.28097	TCC		0.587	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		6	189	0	0	0	1	0	6	189					G	87018080	A	G	87018080	2	3	284	1	0	0	0	0	0	0	0	1	17157	291	11	3		3	VGLL3	3	87018080	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	37169244	87018080	111004350	13	30146											
ZNF654	55279	broad.mit.edu	37	chr3	88188745	88188748	+	Frame_Shift_Del	DEL	ACTT	ACTT	-													aaggatttggaagtggagacActtactgcttctagtgaagg							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:88188745_88188748delACTT	ENST00000309495.5	+	1	492_495	c.285_288delACTT	c.(283-288)acacttfs	p.TL95fs	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	95					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(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAGTGGAGACACTTACTGCTTCTA	0.358																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(283-288)acfs		zinc finger protein 654																																				SO:0001589	frameshift_variant	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188745_88188748delACTT	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.285_288delACTT	3.37:g.88188745_88188748delACTT	ENSP00000312141:p.Thr95fs					CGGBP1_ENST00000462901.1_Intron	p.TL95fs	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	492_495	+		Lung NSC(201;0.0283)	95					Q9H791|Q9NV14	Frame_Shift_Del	DEL	ENST00000309495.5	37	c.285_288delACTT	CCDS46874.1																																																																																				0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		8	43						8	43	---	---	---	---	-	88188748	ACTT	-	88188745	7	5	284	1	0	1	0	1	0	0	0	0	18064	146	6	0	287	0	ZNF654	3	88188745	Frame_Shift_Del	DEL	ACTT	TCGA-HT-7875-01A-11D-2395-08	1170665	88188745	109833685	14	30147											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-													tcgagtccctcaagtccttcCagcagcagcagcagcagcag					rs71180116|rs374076986	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(52-54)del		huntingtin																																				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076604_3076606delCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_54delCAG	4.37:g.3076613_3076615delCAG	ENSP00000347184:p.Gln38del						p.Q38del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	197_199	+		all_epithelial(65;0.18)	38			Poly-Gln.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.52_54delCAG	CCDS43206.1																																																																																				0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	4						3	4	---	---	---	---	-	3076606	CAG	-	3076604	7	5	284	1	0	1	0	1	0	0	0	0	7457	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-HT-7875-01A-11D-2395-08		3076604	188077672	15	30148											
GABRA4	2557	broad.mit.edu	37	chr4	46979112	46979112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggcatgcatgaccatcCatgggaaaatccaccaatct	8	11	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:46979112C>T	ENST00000264318.3	-	5	1525	c.543G>A	c.(541-543)atG>atA	p.M181I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	181					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)	CATGACCATCCATGGGAAAAT	0.333																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(541-543)atG>atA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						57	55	56					4																	46979112		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979112C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.543G>A	4.37:g.46979112C>T	ENSP00000264318:p.Met181Ile						p.M181I	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			5	1525	-			181					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.543G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270244	0.95429	.	.	ENSG00000109158	ENST00000264318	T	0.79454	-1.27	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.93493	0.6837	10	0.87932	D	0	.	18.1472	0.89661	0.0:1.0:0.0:0.0	.	181	P48169	GBRA4_HUMAN	I	181	ENSP00000264318:M181I	ENSP00000264318:M181I	M	-	3	0	GABRA4	46673869	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.755000	0.94549	0.650000	0.86243	ATG		0.333	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			7	35	0	0	0	1	0	7	35					T	46979112	C	T	46979112	3	4	284	1	0	0	0	0	1	0	0	0	6163	594	21	2	1141	2	GABRA4	4	46979112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	43902508	46979112	144175164	16	30149											
CLOCK	9575	broad.mit.edu	37	chr4	56301648	56301648	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccggctgagttgctgctgTtgctgagactgatgttgctg	15	8	0	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:56301648T>C	ENST00000309964.4	-	22	2725	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	CLOCK_ENST00000381322.1_Silent_p.Q825Q|CLOCK_ENST00000513440.1_Silent_p.Q825Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	825	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Poly-Gln.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTTGCTGCTGTTGCTGAGACT	0.527																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2473-2475)caA>caG		clock circadian regulator							272	228	243					4																	56301648		2203	4300	6503	SO:0001819	synonymous_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56301648T>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2475A>G	4.37:g.56301648T>C						CLOCK_ENST00000381322.1_Silent_p.Q825Q|CLOCK_ENST00000513440.1_Silent_p.Q825Q	p.Q825Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		22	2725	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		825			Poly-Gln.		A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	c.2475A>G	CCDS3500.1																																																																																				0.527	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		55	76	0	0	0	1	0	55	76					C	56301648	T	C	56301648	2	2	284	1	0	0	0	0	0	0	0	1	3549	1722	60	3		3	CLOCK	4	56301648	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	9322536	56301648	134852628	17	30150											
NPFFR2	10886	broad.mit.edu	37	chr4	72994632	72994632	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acactgctggacaatattatAgcaggtatgttggcttttgt	10	6	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:72994632A>T	ENST00000308744.6	+	2	728	c.630A>T	c.(628-630)atA>atT	p.I210I	NPFFR2_ENST00000395999.1_Silent_p.I111I|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Silent_p.I108I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	210					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)			ACAATATTATAGCAGGTATGT	0.368																																						ENST00000308744.6																			0				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						c.(628-630)atA>atT		neuropeptide FF receptor 2							92	89	90					4																	72994632		2203	4300	6503	SO:0001819	synonymous_variant	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994632A>T	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.630A>T	4.37:g.72994632A>T						NPFFR2_ENST00000358749.3_Silent_p.I108I|NPFFR2_ENST00000395999.1_Silent_p.I111I|NPFFR2_ENST00000344413.5_Intron	p.I210I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	728	+			210					Q96RV1|Q9NR49	Silent	SNP	ENST00000308744.6	37	c.630A>T	CCDS3551.1																																																																																				0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		37	55	0	0	0	1	0	37	55					T	72994632	A	T	72994632	2	4	284	1	0	0	0	0	0	0	0	1	10578	410	15	5		5	NPFFR2	4	72994632	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	16692984	72994632	118159644	18	30151											
INPP4B	8821	broad.mit.edu	37	chr4	143094941	143094941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgttttcaggtgaataGtaaataaactggtatccggt	11	5	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:143094941G>A	ENST00000513000.1	-	17	1636	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	INPP4B_ENST00000308502.4_Silent_p.Y401Y|INPP4B_ENST00000509777.1_Silent_p.Y401Y|INPP4B_ENST00000508116.1_Silent_p.Y401Y|INPP4B_ENST00000262992.4_Silent_p.Y401Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	401					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)					CAGGTGAATAGTAAATAAACT	0.368																																						ENST00000513000.1																			0				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						c.(1201-1203)taC>taT		inositol polyphosphate-4-phosphatase, type II, 105kDa							266	251	256					4																	143094941		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143094941G>A	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.1203C>T	4.37:g.143094941G>A						INPP4B_ENST00000262992.4_Silent_p.Y401Y|INPP4B_ENST00000509777.1_Silent_p.Y401Y|INPP4B_ENST00000308502.4_Silent_p.Y401Y|INPP4B_ENST00000508116.1_Silent_p.Y401Y	p.Y401Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			17	1636	-	all_hematologic(180;0.158)		401					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1203C>T	CCDS3757.1																																																																																				0.368	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		7	117	0	0	0	1	0	7	117					A	143094941	G	A	143094941	2	1	284	1	0	0	0	0	0	0	0	1	7753	1024	36	2		2	INPP4B	4	143094941	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	70100309	143094941	48059335	19	30152											
MARCH6	10299	broad.mit.edu	37	chr5	10426541	10426541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaacattgaccttcactatAttgttcgtaaactggcagct	8	9	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:10426541A>T	ENST00000274140.5	+	24	2545	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	MARCH6_ENST00000503788.1_Missense_Mutation_p.I700F|MARCH6_ENST00000449913.2_Missense_Mutation_p.I757F|MARCH6_ENST00000510792.1_Missense_Mutation_p.I503F	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	805					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTTCACTATATTGTTCGTAA	0.403																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2413-2415)Att>Ttt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							430	367	388					5																	10426541		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426541A>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2413A>T	5.37:g.10426541A>T	ENSP00000274140:p.Ile805Phe					MARCH6_ENST00000503788.1_Missense_Mutation_p.I700F|MARCH6_ENST00000510792.1_Missense_Mutation_p.I503F|MARCH6_ENST00000449913.2_Missense_Mutation_p.I757F	p.I805F	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2545	+			805					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2413A>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092126	0.76756	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.43688	1.94;0.95;1.94;0.94	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58977	0.2160	L	0.57536	1.79	0.80722	D	1	P;D;D;D	0.67145	0.674;0.99;0.996;0.987	B;P;P;P	0.62298	0.363;0.67;0.9;0.571	T	0.61138	-0.7123	10	0.62326	D	0.03	-20.5014	16.1485	0.81594	1.0:0.0:0.0:0.0	.	700;757;385;805	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	F	757;700;805;503	ENSP00000414643:I757F;ENSP00000425930:I700F;ENSP00000274140:I805F;ENSP00000424512:I503F	ENSP00000274140:I805F	I	+	1	0	MARCH6	10479541	1.000000	0.71417	0.973000	0.42090	0.972000	0.66771	6.902000	0.75699	2.281000	0.76405	0.533000	0.62120	ATT		0.403	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		17	153	0	0	0	1	0	17	153					T	10426541	A	T	10426541	3	4	284	1	0	0	0	0	1	0	0	0	9305	449	16	5	2507	5	MARCH6	5	10426541	Missense_Mutation	SNP	A	TCGA-HT-7875-01A-11D-2395-08		10426541	170488719	20	30153											
FGFR4	2264	broad.mit.edu	37	chr5	176520245	176520245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcctgctgctggccggGctgtatcgagggcaggcgct	17	12	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:176520245G>A	ENST00000292408.4	+	9	1409	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000502906.1_Silent_p.G388G|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000292410.3_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	388			G -> R (prolonged FGFR4 activity, increased cell motility and tumor cell invasion, possibly due to increased stability of the protease MMP14; dbSNP:rs351855). {ECO:0000269|PubMed:11781352, ECO:0000269|PubMed:21882254, ECO:0000269|Ref.8}.		alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	TGCTGGCCGGGCTGTATCGAG	0.701										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1162-1164)ggG>ggA		fibroblast growth factor receptor 4	Palifermin(DB00039)						35	32	33					5																	176520245		2202	4297	6499	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520245G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1164G>A	5.37:g.176520245G>A		TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000502906.1_Silent_p.G388G|FGFR4_ENST00000292410.3_Intron	p.G388G	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1409	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	388		G -> R (in dbSNP:rs351855).			G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.1164G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	9.030	0.987053	0.18889	.	.	ENSG00000160867	ENST00000511076	.	.	.	4.18	2.31	0.28768	.	.	.	.	.	T	0.58666	0.2138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52064	-0.8625	4	.	.	.	.	9.8018	0.40768	0.0:0.4683:0.3901:0.1416	.	.	.	.	T	24	.	.	A	+	1	0	FGFR4	176452851	0.936000	0.31750	0.802000	0.32245	0.777000	0.43975	0.852000	0.27764	0.362000	0.24319	0.561000	0.74099	GCT		0.701	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			4	67	0	0	0	1	0	4	67					A	176520245	G	A	176520245	2	1	284	1	0	0	0	0	0	0	0	1	5868	1190	42	2		2	FGFR4	5	176520245	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	166093704	176520245	4395015	21	30154											
SYCP2L	221711	broad.mit.edu	37	chr6	10955433	10955436	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													atcccctttctcaataacagAagaaagagagttgccaggta							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr6:10955433_10955436delAAGA	ENST00000283141.6	+	24	2335_2338	c.2039_2042delAAGA	c.(2038-2043)gaagaafs	p.EE680fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	680						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAATAACAGAAGAAAGAGAGTTG	0.451											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2038-2043)gafs		synaptonemal complex protein 2-like																																				SO:0001589	frameshift_variant	221711					nucleus		g.chr6:10955433_10955436delAAGA	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2039_2042delAAGA	6.37:g.10955437_10955440delAAGA	ENSP00000283141:p.Glu680fs		OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	668		p.EE680fs	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		24	2335_2338	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	680					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Frame_Shift_Del	DEL	ENST00000283141.6	37	c.2039_2042delAAGA	CCDS43423.1																																																																																				0.451	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		27	101						27	101	---	---	---	---	-	10955436	AAGA	-	10955433	7	5	284	1	0	1	0	1	0	0	0	0	15430	246	9	0	2133	0	SYCP2L	6	10955433	Frame_Shift_Del	DEL	AAGA	TCGA-HT-7875-01A-11D-2395-08		10955433	160159634	22	30155											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		12	55						12	55	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	284	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HT-7875-01A-11D-2395-08		1586662	157552001	23	30156											
MUC17	140453	broad.mit.edu	37	chr7	100678653	100678653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgaagtcagttcatctcCtacacctgctgaaggtacca	7	11	3	2	rs144372503		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:100678653C>T	ENST00000306151.4	+	3	4020	c.3956C>T	c.(3955-3957)cCt>cTt	p.P1319L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1319	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)					AGTTCATCTCCTACACCTGCT	0.478													N|||	1	0.000199681	0.0008	0.0	5008	,	,		28792	0.0		0.0	False		,,,				2504	0.0					ENST00000306151.4																			0				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						c.(3955-3957)cCt>cTt		mucin 17, cell surface associated		C	LEU/PRO	6,4400	11.4+/-27.6	0,6,2197	245	231	235		3956	-0.9	0	7	dbSNP_134	235	0,8600		0,0,4300	yes	missense	MUC17	NM_001040105.1	98	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	1319/4494	100678653	6,13000	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678653C>T	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.3956C>T	7.37:g.100678653C>T	ENSP00000302716:p.Pro1319Leu						p.P1319L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4020	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1319			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3956C>T	CCDS34711.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.524	-0.860781	0.02610	0.001362	0.0	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.471	-0.942	0.10398	.	.	.	.	.	T	0.02418	0.0074	L	0.29908	0.895	0.09310	N	1	B	0.23854	0.092	B	0.12837	0.008	T	0.48559	-0.9025	8	0.18710	T	0.47	.	.	.	.	.	1319	Q685J3	MUC17_HUMAN	L	1319	ENSP00000302716:P1319L	ENSP00000302716:P1319L	P	+	2	0	MUC17	100465373	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.000000	0.12993	-0.556000	0.06134	0.134000	0.15878	CCT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		32	451	0	0	0	1	0	32	451					T	100678653	C	T	100678653	3	4	284	1	0	0	0	0	1	0	0	0	9974	681	24	2	3966	2	MUC17	7	100678653	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	99091991	100678653	58460010	24	30157											
PRSS2	154754	broad.mit.edu	37	chr7	142481316	142481316	+	RNA	SNP	T	T	C													tccaccatctctctgcccacTgcccctccagctgctggcac					rs201020184		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:142481316T>C	ENST00000603901.1	+	0	390					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CTCTGCCCACTGCCCCTCCAG	0.547																																						ENST00000603901.1																			0																				146	106	119					7																	142481316		689	1515	2204			0							g.chr7:142481316T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481316T>C								NR_001296.3						0	390	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.547	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	36	0	0	0	1	0	6	36					C	142481316	T	C	142481316	1	2	284	0	1	0	0	0	0	0	0	0	12617	1567	55	3		3	PRSS2	7	142481316	RNA	SNP	T	TCGA-HT-7875-01A-11D-2395-08	41802663	142481316	16657347	25	30158	139	2									
PRSS2	154754	broad.mit.edu	37	chr7	142481317	142481317	+	RNA	SNP	G	G	A													ccaccatctctctgcccactGcccctccagctgctggcacc					rs201986742		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:142481317G>A	ENST00000603901.1	+	0	391					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCTGCCCACTGCCCCTCCAGC	0.547																																						ENST00000603901.1																			0																				144	105	117					7																	142481317		689	1515	2204			0							g.chr7:142481317G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481317G>A								NR_001296.3						0	391	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.547	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	36	0	0	0	1	0	6	36					A	142481317	G	A	142481317	1	1	284	0	1	0	0	0	0	0	0	0	12617	1319	46	2		2	PRSS2	7	142481317	RNA	SNP	G	TCGA-HT-7875-01A-11D-2395-08	1	142481317	16657346	26	30159	139	2									
CLU	1191	broad.mit.edu	37	chr8	27472227	27472227	+	5'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacgccgcgttgtgggcActgggaggcgccgtatttat	17	10	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr8:27472227A>G	ENST00000316403.10	-	0	321				CLU_ENST00000560366.1_Silent_p.S24S|CLU_ENST00000546343.1_5'Flank			P10909	CLUS_HUMAN	clusterin						blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGTTGTGGGCACTGGGAGGCG	0.652											OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000560366.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(70-72)agT>agC		clusterin							49	54	52					8																	27472227		2203	4298	6501	SO:0001623	5_prime_UTR_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27472227A>G	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.-85T>C	8.37:g.27472227A>G			OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	794	CLU_ENST00000316403.10_5'UTR	p.S24S	NM_001831.3	NP_001822.3	P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	1	100	-		Ovarian(32;2.61e-05)	0					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	c.72T>C	CCDS47832.1																																																																																				0.652	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		106	104	0	0	0	1	0	106	104					G	27472227	A	G	27472227	1	3	284	0	1	0	0	0	0	0	0	0	3568	156	6	3		3	CLU	8	27472227	5'UTR	SNP	A	TCGA-HT-7875-01A-11D-2395-08		27472227	118891795	27	30160											
FAM166B	730112	broad.mit.edu	37	chr9	35563276	35563276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggaggcagaagtgtgCggtggacagggggccaggct	21	6	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:35563276C>T	ENST00000399742.2	-	2	243	c.173G>A	c.(172-174)cGc>cAc	p.R58H	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	58										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CAGAAGTGTGCGGTGGACAGG	0.617																																						ENST00000399742.2																			0				kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						c.(172-174)cGc>cAc		family with sequence similarity 166, member B							96	103	101					9																	35563276		2088	4221	6309	SO:0001583	missense	730112							g.chr9:35563276C>T	BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.173G>A	9.37:g.35563276C>T	ENSP00000382646:p.Arg58His					FAM166B_ENST00000492890.1_5'UTR	p.R58H	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN			2	243	-			58					A1L3B2|B7ZBJ0	Missense_Mutation	SNP	ENST00000399742.2	37	c.173G>A	CCDS56572.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056643	0.55325	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	.	.	.	5.9	4.07	0.47477	.	0.000000	0.32970	U	0.005427	T	0.25754	0.0627	L	0.38838	1.175	0.30440	N	0.776273	P;B;B;B	0.37276	0.589;0.081;0.018;0.333	B;B;B;B	0.30105	0.111;0.029;0.01;0.061	T	0.15636	-1.0430	9	0.20046	T	0.44	-9.5129	8.2989	0.32001	0.0:0.8258:0.0:0.1742	.	58;58;58;58	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	H	58	.	ENSP00000382646:R58H	R	-	2	0	FAM166B	35553276	0.686000	0.27661	0.987000	0.45799	0.973000	0.67179	0.859000	0.27858	1.501000	0.48654	-0.137000	0.14449	CGC		0.617	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1	NM_001099951		4	171	0	0	0	1	0	4	171					T	35563276	C	T	35563276	3	4	284	1	0	0	0	0	1	0	0	0	5482	768	27	1	493	1	FAM166B	9	35563276	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		35563276	105650155	28	30161											
ZNF618	114991	broad.mit.edu	37	chr9	116811917	116811917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccaaggccaacgacgcaGgcactgtcagcaagctctgc	12	15	2	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:116811917G>A	ENST00000374126.5	+	15	2434	c.2335G>A	c.(2335-2337)Ggc>Agc	p.G779S	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.G686S			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	779					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(4)|lung(10)|urinary_tract(1)	16						CAACGACGCAGGCACTGTCAG	0.627																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2056-2058)Ggc>Agc		zinc finger protein 618							49	53	52					9																	116811917		2153	4253	6406	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811917G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2335G>A	9.37:g.116811917G>A	ENSP00000363241:p.Gly779Ser					ZNF618_ENST00000374126.5_Missense_Mutation_p.G779S|ZNF618_ENST00000470105.1_3'UTR	p.G686S	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2155	+			779					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2056G>A		.	.	.	.	.	.	.	.	.	.	G	19.88	3.909914	0.72983	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22134	1.97;1.97	5.24	4.34	0.51931	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.998;1.0	T	0.49952	-0.8884	9	0.62326	D	0.03	-29.2413	12.9532	0.58413	0.0782:0.0:0.9218:0.0	.	746;779;686	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	S	779;686	ENSP00000363241:G779S;ENSP00000288466:G686S	ENSP00000288466:G686S	G	+	1	0	ZNF618	115851738	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.515000	0.81761	1.348000	0.45733	0.561000	0.74099	GGC		0.627	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		12	117	0	0	0	1	0	12	117					A	116811917	G	A	116811917	3	1	284	1	0	0	0	0	1	0	0	0	18039	1000	35	2	2110	2	ZNF618	9	116811917	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	81248641	116811917	24401514	29	30162											
SPTAN1	6709	broad.mit.edu	37	chr9	131388217	131388217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggccaactcagccgcccGcaagaagaagcttctggagg	12	13	3	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:131388217G>A	ENST00000372731.4	+	47	6334	c.6224G>A	c.(6223-6225)cGc>cAc	p.R2075H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2080H|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2080H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2075					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						TCAGCCGCCCGCAAGAAGAAG	0.617																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				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						c.(6238-6240)cGc>cAc		spectrin, alpha, non-erythrocytic 1							58	64	62					9																	131388217		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388217G>A	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.6224G>A	9.37:g.131388217G>A	ENSP00000361816:p.Arg2075His					SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2075H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2080H	p.R2080H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			48	6349	+			2075					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6239G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504439	0.64410	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.61392	0.11;0.11;0.11	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.74258	2.255	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.796	D;D;P	0.91635	0.999;0.984;0.564	T	0.75453	-0.3312	10	0.38643	T	0.18	.	18.9597	0.92673	0.0:0.0:1.0:0.0	.	2055;2080;2075	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	2080;2075;2080;2055;324	ENSP00000350882:R2080H;ENSP00000361816:R2075H;ENSP00000361824:R2080H	ENSP00000350882:R2080H	R	+	2	0	SPTAN1	130428038	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.465000	0.97660	2.480000	0.83734	0.561000	0.74099	CGC		0.617	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		5	172	0	0	0	1	0	5	172					A	131388217	G	A	131388217	3	1	284	1	0	0	0	0	1	0	0	0	15116	1087	38	1	6425	1	SPTAN1	9	131388217	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	14576300	131388217	9825214	30	30163											
NOTCH1	4851	broad.mit.edu	37	chr9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcccgcatgctcgcaggGgttggcacctggcgagggca	16	13	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; 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)	p.P422S(2)		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)		TGCTCGCAGGGGTTGGCACCT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.P422S(2)	upper_aerodigestive_tract(2)	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						c.(1264-1266)Ccc>Tcc		notch 1							31	35	34					9																	139412381		2190	4285	6475	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412381G>A	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.1264C>T	9.37:g.139412381G>A	ENSP00000277541:p.Pro422Ser	HNSCC(8;0.001)					p.P422S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1339	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	422			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1264C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516376	0.85495	.	.	ENSG00000148400	ENST00000277541	D	0.96041	-3.89	4.69	4.69	0.59074	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	0.97337	0.9129	M	0.83852	2.665	0.80722	D	1	P	0.50710	0.938	P	0.59643	0.861	D	0.97827	1.0260	10	0.56958	D	0.05	.	16.5828	0.84718	0.0:0.0:1.0:0.0	.	422	P46531	NOTC1_HUMAN	S	422	ENSP00000277541:P422S	ENSP00000277541:P422S	P	-	1	0	NOTCH1	138532202	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.635000	0.98437	2.161000	0.67846	0.462000	0.41574	CCC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	67	0	0	0	1	0	5	67					A	139412381	G	A	139412381	3	1	284	1	0	0	0	0	1	0	0	0	10547	1232	43	2	6511	2	NOTCH1	9	139412381	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	8024164	139412381	1801050	31	30164											
PRPF18	8559	broad.mit.edu	37	chr10	13655742	13655744	+	Splice_Site	DEL	TTC	TTC	-													ttacccatcctttcaacagtTtcttcttggcgtttgggcta							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr10:13655742_13655744delTTC	ENST00000378572.3	+	7	741_743	c.581_583delTTC	c.(580-585)tttctt>ttt	p.L196del		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	196					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTCAACAGTTTCTTCTTGGCGT	0.429																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.e7-1		pre-mRNA processing factor 18																																				SO:0001630	splice_region_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13655742_13655744delTTC	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.580-1TTC>-	10.37:g.13655745_13655747delTTC							p.FL194_splice	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			7	741_743	+			194					Q5T9P9|Q9BUI9	Splice_Site	DEL	ENST00000378572.3	37	c.579_splice	CCDS7100.1																																																																																				0.429	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1		In_Frame_Del	16	72						16	72	---	---	---	---	-	13655744	TTC	-	13655742	8	5	284	1	0	1	0	1	0	0	1	0	12563	1855	64	0	607	0	PRPF18	10	13655742	Splice_Site	DEL	TTC	TCGA-HT-7875-01A-11D-2395-08		13655742	121879005	32	30165											
OR5D18	219438	broad.mit.edu	37	chr11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttttattagctgtgatgGcctatgaccgcttcgtggcc	10	11	0	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120						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(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(358-360)Gcc>Acc		olfactory receptor, family 5, subfamily D, member 18							167	162	164					11																	55587463		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587463G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.358G>A	11.37:g.55587463G>A	ENSP00000335025:p.Ala120Thr						p.A120T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	378	+		all_epithelial(135;0.208)	120					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.358G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036021	0.75617	.	.	ENSG00000186119	ENST00000333976	T	0.54071	0.59	4.84	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001428	T	0.68869	0.3048	H	0.96365	3.81	0.35287	D	0.781833	P	0.50369	0.934	P	0.44696	0.458	D	0.84873	0.0826	10	0.87932	D	0	-38.6253	13.543	0.61686	0.0:0.0:0.8427:0.1573	.	120	Q8NGL1	OR5DI_HUMAN	T	120	ENSP00000335025:A120T	ENSP00000335025:A120T	A	+	1	0	OR5D18	55344039	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	3.767000	0.55288	1.190000	0.43042	0.560000	0.71715	GCC		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		6	212	0	0	0	1	0	6	212					A	55587463	G	A	55587463	3	1	284	1	0	0	0	0	1	0	0	0	11157	1203	42	2	360	2	OR5D18	11	55587463	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		55587463	79419053	33	30166											
OR1S1	219959	broad.mit.edu	37	chr11	57982884	57982884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcagttatcatcttccCctttacactcagcttctttt	2	12	5	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:57982884C>T	ENST00000309433.6	+	1	668	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	223						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCATCTTCCCCTTTACACTC	0.443																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(667-669)cCc>cTc		olfactory receptor, family 1, subfamily S, member 1							165	130	142					11																	57982884		2201	4295	6496	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982884C>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.668C>T	11.37:g.57982884C>T	ENSP00000311688:p.Pro223Leu						p.P223L	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	668	+		Breast(21;0.0589)	223					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.668C>T	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505111	0.44558	.	.	ENSG00000172774	ENST00000309433	T	0.56103	0.48	3.23	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000168	T	0.75539	0.3863	M	0.90309	3.105	0.28552	N	0.911578	D	0.89917	1.0	D	0.97110	1.0	T	0.72606	-0.4242	10	0.87932	D	0	.	13.1923	0.59717	0.0:1.0:0.0:0.0	.	223	Q8NH92	OR1S1_HUMAN	L	223	ENSP00000311688:P223L	ENSP00000311688:P223L	P	+	2	0	OR1S1	57739460	0.001000	0.12720	0.693000	0.30195	0.500000	0.33767	1.589000	0.36644	1.647000	0.50633	0.479000	0.44913	CCC		0.443	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		8	97	0	0	0	1	0	8	97					T	57982884	C	T	57982884	3	4	284	1	0	0	0	0	1	0	0	0	10972	623	22	2	670	2	OR1S1	11	57982884	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2395421	57982884	77023632	34	30167											
FUT4	2526	broad.mit.edu	37	chr11	94278274	94278274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctaccgggcggactcggaCgtctttgtgccttatggcta	12	12	1	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:94278274C>T	ENST00000358752.2	+	1	1258	c.975C>T	c.(973-975)gaC>gaT	p.D325D	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	325					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	cell periphery (GO:0071944)|cell surface (GO:0009986)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGACTCGGACGTCTTTGTGC	0.647																																						ENST00000358752.2																			0				central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(973-975)gaC>gaT		fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)							27	32	30					11																	94278274		2193	4289	6482	SO:0001819	synonymous_variant	2526				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	g.chr11:94278274C>T		CCDS8301.1	11q21	2013-02-26			ENSG00000196371	ENSG00000196371		"CD molecules", "Fucosyltransferases"	4015	protein-coding gene	gene with protein product	"ELAM ligand fucosyltransferase", "galactoside 3-L-fucosyltransferase"	104230		CD15, FCT3A, ELFT		1702034	Standard	NM_002033		Approved	FUC-TIV	uc001pez.3	P22083	OTTHUMG00000167795	ENST00000358752.2:c.975C>T	11.37:g.94278274C>T							p.D325D	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN			1	1258	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	325					B2RMS0	Silent	SNP	ENST00000358752.2	37	c.975C>T	CCDS8301.1																																																																																				0.647	FUT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396327.2	NM_002033		24	61	0	0	0	1	0	24	61					T	94278274	C	T	94278274	2	4	284	1	0	0	0	0	0	0	0	1	6106	535	19	1		1	FUT4	11	94278274	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08	36295390	94278274	40728242	35	30168											
TRPC6	7225	broad.mit.edu	37	chr11	101342947	101342947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccatcgtaacattatagactCcataaagaacgtaaccaatg	5	10	0	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:101342947C>A	ENST00000344327.3	-	8	2550	c.2126G>T	c.(2125-2127)gGa>gTa	p.G709V	TRPC6_ENST00000532133.1_Missense_Mutation_p.G631V|TRPC6_ENST00000360497.4_Missense_Mutation_p.G654V|TRPC6_ENST00000348423.4_Missense_Mutation_p.G593V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	709					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTATAGACTCCATAAAGAAC	0.328																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2125-2127)gGa>gTa		transient receptor potential cation channel, subfamily C, member 6							94	95	95					11																	101342947		2203	4297	6500	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101342947C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2126G>T	11.37:g.101342947C>A	ENSP00000340913:p.Gly709Val					TRPC6_ENST00000360497.4_Missense_Mutation_p.G654V|TRPC6_ENST00000532133.1_Missense_Mutation_p.G631V|TRPC6_ENST00000348423.4_Missense_Mutation_p.G593V	p.G709V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	8	2550	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	709					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2126G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563943	0.86335	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.81	5.81	0.92471	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	M	0.90977	3.165	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	0.99421	1.0933	10	0.87932	D	0	-10.2244	20.0784	0.97758	0.0:1.0:0.0:0.0	.	654;593;709	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	V	709;631;593;654	ENSP00000340913:G709V;ENSP00000435574:G631V;ENSP00000343672:G593V;ENSP00000353687:G654V	ENSP00000340913:G709V	G	-	2	0	TRPC6	100848157	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	6.097000	0.71452	2.736000	0.93811	0.655000	0.94253	GGA		0.328	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		4	85	1	0	0.00909568	1	0.00922028	4	85					A	101342947	C	A	101342947	3	1	284	1	0	0	0	0	1	0	0	0	16580	855	30	4	693	4	TRPC6	11	101342947	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	7064673	101342947	33663569	36	30169											
NCAM1	4684	broad.mit.edu	37	chr11	113126648	113126649	+	Frame_Shift_Del	DEL	CT	CT	-													cagatgggagaggatggaaaCtctattaaagtgaacctgat							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:113126648_113126649delCT	ENST00000533760.1	+	15	2093_2094	c.1494_1495delCT	c.(1492-1497)aactctfs	p.S499fs	NCAM1_ENST00000316851.7_Frame_Shift_Del_p.S617fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	627	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGATGGAAACTCTATTAAAGT	0.5																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1846-1851)aactfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113126648_113126649delCT		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1494_1495delCT	11.37:g.113126650_113126651delCT	ENSP00000473281:p.Ser499fs					NCAM1_ENST00000533760.1_Frame_Shift_Del_p.NS498fs|NCAM1_ENST00000397957.4_3'UTR	p.NS616fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	14	1848_1849	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	626			Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Del	DEL	ENST00000533760.1	37	c.1848_1849delCT																																																																																					0.5	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		12	17						12	17	---	---	---	---	-	113126649	CT	-	113126648	7	5	284	1	0	1	0	1	0	0	0	0	10202	564	20	0	2054	0	NCAM1	11	113126648	Frame_Shift_Del	DEL	CT	TCGA-HT-7875-01A-11D-2395-08	11783701	113126648	21879868	37	30170											
PHLDB1	23187	broad.mit.edu	37	chr11	118499068	118499068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttctccctgacgctggGggcacggggccgtaggacac	16	13	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:118499068G>A	ENST00000361417.2	+	7	1940	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G510E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	510										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGACGCTGGGGGCACGGGGC	0.662																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1528-1530)gGg>gAg		pleckstrin homology-like domain, family B, member 1							15	18	17					11																	118499068		2199	4288	6487	SO:0001583	missense	23187							g.chr11:118499068G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1529G>A	11.37:g.118499068G>A	ENSP00000354498:p.Gly510Glu					PHLDB1_ENST00000356063.5_Missense_Mutation_p.G510E	p.G510E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1940	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	510					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1529G>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401554	0.42613	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.35048	1.35;1.33	5.42	5.42	0.78866	.	0.186652	0.46758	D	0.000275	T	0.47488	0.1448	L	0.55481	1.735	0.24738	N	0.993057	D;P;D	0.69078	0.996;0.782;0.997	P;B;P	0.61874	0.89;0.324;0.895	T	0.43782	-0.9370	10	0.44086	T	0.13	-36.3456	7.9017	0.29738	0.0851:0.1634:0.7515:0.0	.	510;510;510	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	E	510;269;510	ENSP00000354498:G510E;ENSP00000348359:G510E	ENSP00000348359:G510E	G	+	2	0	PHLDB1	118004278	0.996000	0.38824	0.712000	0.30502	0.988000	0.76386	2.596000	0.46205	2.543000	0.85770	0.561000	0.74099	GGG		0.662	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		4	39	0	0	0	1	0	4	39					A	118499068	G	A	118499068	3	1	284	1	0	0	0	0	1	0	0	0	11851	1232	43	2	1547	2	PHLDB1	11	118499068	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	5372420	118499068	16507448	38	30171											
TAS2R13	50838	broad.mit.edu	37	chr12	11061883	11061883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagagtgaagatactcggCagggcactttccatgtcaga	11	9	1	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:11061883C>T	ENST00000390677.2	-	1	278	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	5					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGATACTCGGCAGGGCACTTT	0.383																																						ENST00000390677.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(13-15)ctG>ctA		taste receptor, type 2, member 13							33	33	33					12																	11061883		2201	4297	6498	SO:0001819	synonymous_variant	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061883C>T	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.15G>A	12.37:g.11061883C>T						PRR4_ENST00000536668.1_Intron	p.L5L	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	278	-			5					Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	c.15G>A	CCDS8635.1																																																																																				0.383	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			7	41	0	0	0	1	0	7	41					T	11061883	C	T	11061883	2	4	284	1	0	0	0	0	0	0	0	1	15564	697	25	2		2	TAS2R13	12	11061883	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		11061883	122790012	39	30172											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860093	42860093	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatatacctctgtccTcccaggaccgtttcacactc	5	15	3	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:42860093T>A	ENST00000455697.1	-	6	963	c.678A>T	c.(676-678)ggA>ggT	p.G226G	PRICKLE1_ENST00000445766.2_Silent_p.G226G|PRICKLE1_ENST00000552240.1_Silent_p.G226G|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Silent_p.G226G|PRICKLE1_ENST00000548696.1_Silent_p.G226G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	226	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACCTCTGTCCTCCCAGGACCG	0.488																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(676-678)ggA>ggT		prickle homolog 1 (Drosophila)							99	83	89					12																	42860093		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860093T>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.678A>T	12.37:g.42860093T>A						PRICKLE1_ENST00000445766.2_Silent_p.G226G|PRICKLE1_ENST00000345127.3_Silent_p.G226G|PRICKLE1_ENST00000552240.1_Silent_p.G226G|PRICKLE1_ENST00000548696.1_Silent_p.G226G	p.G226G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	963	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		226			LIM zinc-binding 2.		Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	c.678A>T	CCDS8742.1																																																																																				0.488	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			10	82	0	0	0	1	0	10	82					A	42860093	T	A	42860093	2	1	284	1	0	0	0	0	0	0	0	1	12486	1538	54	5		5	PRICKLE1	12	42860093	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	31798210	42860093	90991802	40	30173											
DCTN2	10540	broad.mit.edu	37	chr12	57928086	57928086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccacttagccagggcGccatcggggtcggtaaggtt	15	11	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:57928086G>A	ENST00000548249.1	-	6	780	c.513C>T	c.(511-513)ggC>ggT	p.G171G	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000434715.3_Silent_p.G176G|DCTN2_ENST00000543672.1_Silent_p.G176G|DCTN2_ENST00000537439.1_Silent_p.G148G	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	171					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TAGCCAGGGCGCCATCGGGGT	0.562																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(511-513)ggC>ggT		dynactin 2 (p50)							59	60	60					12																	57928086		1994	4153	6147	SO:0001819	synonymous_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57928086G>A	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.513C>T	12.37:g.57928086G>A						DCTN2_ENST00000434715.3_Silent_p.G176G|DCTN2_ENST00000543672.1_Silent_p.G176G|DCTN2_ENST00000537439.1_Silent_p.G148G	p.G171G	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN			6	780	-			171					B2RBK5|Q86YN2|Q9BW17	Silent	SNP	ENST00000548249.1	37	c.513C>T	CCDS58245.1																																																																																				0.562	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		5	103	0	0	0	1	0	5	103					A	57928086	G	A	57928086	2	1	284	1	0	0	0	0	0	0	0	1	4307	1074	38	1		1	DCTN2	12	57928086	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	15067993	57928086	75923809	41	30174											
ZMYM2	7750	broad.mit.edu	37	chr13	20577051	20577052	+	Frame_Shift_Del	DEL	TT	TT	-													aaacaaccaggggtggactcTttatcaccagtggcctcact							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr13:20577051_20577052delTT	ENST00000382874.2	+	5	1099_1100	c.909_910delTT	c.(907-912)tctttafs	p.L304fs	ZMYM2_ENST00000382883.3_5'Flank|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.L304fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.L217fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.L304fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	304				L -> V (in Ref. 4; CAB66556). {ECO:0000305}.	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)		GGGTGGACTCTTTATCACCAGT	0.421																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(907-912)tctafs		zinc finger, MYM-type 2																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20577051_20577052delTT	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.909_910delTT	13.37:g.20577051_20577052delTT	ENSP00000372327:p.Leu304fs					ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.SL303fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.SL216fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.SL303fs	p.SL303fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		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)	4	1160_1161	+		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)	303					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	ENST00000382874.2	37	c.909_910delTT	CCDS45016.1																																																																																				0.421	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		100	109						100	109	---	---	---	---	-	20577052	TT	-	20577051	7	5	284	1	0	1	0	1	0	0	0	0	17697	1596	56	0	915	0	ZMYM2	13	20577051	Frame_Shift_Del	DEL	TT	TCGA-HT-7875-01A-11D-2395-08		20577051	94592827	42	30175											
GPR68	8111	broad.mit.edu	37	chr14	91700786	91700786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggatgccctggtaggaCgccagcagcaggcagatggg	17	11	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr14:91700786C>T	ENST00000531499.2	-	2	948	c.609G>A	c.(607-609)gcG>gcA	p.A203A	GPR68_ENST00000535815.1_Silent_p.A203A|GPR68_ENST00000238699.3_Silent_p.A213A|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	203					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTGGTAGGACGCCAGCAGCA	0.652																																						ENST00000535815.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(607-609)gcG>gcA		G protein-coupled receptor 68							40	31	34					14																	91700786		2202	4300	6502	SO:0001819	synonymous_variant	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700786C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.609G>A	14.37:g.91700786C>T						GPR68_ENST00000531499.2_Silent_p.A203A|GPR68_ENST00000238699.3_Silent_p.A213A	p.A203A	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	949	-		all_cancers(154;0.0555)	203					Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.609G>A	CCDS9894.2																																																																																				0.652	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			9	29	0	0	0	1	0	9	29					T	91700786	C	T	91700786	2	4	284	1	0	0	0	0	0	0	0	1	6707	523	19	1		1	GPR68	14	91700786	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		91700786	15648754	43	30176											
TCF12	6938	broad.mit.edu	37	chr15	57526268	57526269	+	Frame_Shift_Del	DEL	CA	CA	-													agggaatgctgctggaagctCacagacaggtgatgcacttg							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57526268_57526269delCA	ENST00000267811.5	+	12	1302_1303	c.998_999delCA	c.(997-999)tcafs	p.S333fs	TCF12_ENST00000543579.1_Frame_Shift_Del_p.S163fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S333fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S97fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S333fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S329fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S333fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S163fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	333					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTGGAAGCTCACAGACAGGTG	0.356			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(997-999)tfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57526268_57526269delCA	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.998_999delCA	15.37:g.57526270_57526271delCA	ENSP00000267811:p.Ser333fs					TCF12_ENST00000452095.2_Frame_Shift_Del_p.S329fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S97fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S163fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S163fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S333fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S333fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S333fs	p.S333fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	12	1302_1303	+		Colorectal(260;0.0907)	333					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.998_999delCA	CCDS10159.1																																																																																				0.356	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		15	59						15	59	---	---	---	---	-	57526269	CA	-	57526268	7	5	284	1	0	1	0	1	0	0	0	0	15684	838	29	0	1113	0	TCF12	15	57526268	Frame_Shift_Del	DEL	CA	TCGA-HT-7875-01A-11D-2395-08		57526268	45005124	44	30177											
TCF12	6938	broad.mit.edu	37	chr15	57565414	57565416	+	In_Frame_Del	DEL	TCA	TCA	-													caaacaaaactccttattctTcatcaagccgtggcagtcat							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57565414_57565416delTCA	ENST00000267811.5	+	18	2164_2166	c.1860_1862delTCA	c.(1858-1863)cttcat>ctt	p.H621del	TCF12_ENST00000559703.1_In_Frame_Del_p.H278del|TCF12_ENST00000543579.1_In_Frame_Del_p.H475del|TCF12_ENST00000557843.1_In_Frame_Del_p.H621del|TCF12_ENST00000537840.1_In_Frame_Del_p.H385del|TCF12_ENST00000333725.5_In_Frame_Del_p.H645del|TCF12_ENST00000559710.1_In_Frame_Del_p.H255del|TCF12_ENST00000452095.2_In_Frame_Del_p.H641del|TCF12_ENST00000438423.2_In_Frame_Del_p.H645del|TCF12_ENST00000343827.3_In_Frame_Del_p.H451del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	621	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCCTTATTCTTCATCAAGCCGTG	0.448			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1858-1863)ctt>ct		transcription factor 12																																				SO:0001651	inframe_deletion	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565414_57565416delTCA	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1860_1862delTCA	15.37:g.57565417_57565419delTCA	ENSP00000267811:p.His621del					TCF12_ENST00000452095.2_In_Frame_Del_p.LH640del|TCF12_ENST00000537840.1_In_Frame_Del_p.LH384del|TCF12_ENST00000343827.3_In_Frame_Del_p.LH450del|TCF12_ENST00000543579.1_In_Frame_Del_p.LH474del|TCF12_ENST00000438423.2_In_Frame_Del_p.LH644del|TCF12_ENST00000333725.5_In_Frame_Del_p.LH644del|TCF12_ENST00000557843.1_In_Frame_Del_p.LH620del|TCF12_ENST00000559710.1_In_Frame_Del_p.LH254del|TCF12_ENST00000559703.1_In_Frame_Del_p.LH277del	p.LH620del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2164_2166	+		Colorectal(260;0.0907)	620			Helix-loop-helix motif.		Q7Z3D9|Q86TC1|Q86VM2	In_Frame_Del	DEL	ENST00000267811.5	37	c.1860_1862delTCA	CCDS10159.1																																																																																				0.448	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		39	21						39	21	---	---	---	---	-	57565416	TCA	-	57565414	7	5	284	1	0	1	0	1	0	0	0	0	15684	1770	62	0	2075	0	TCF12	15	57565414	In_Frame_Del	DEL	TCA	TCGA-HT-7875-01A-11D-2395-08	39146	57565414	44965978	45	30178											
ITGAL	3683	broad.mit.edu	37	chr16	30485546	30485546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctacaacctggacgtgCggggcgcgcggagcttctcc	15	14	1	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30485546C>T	ENST00000356798.6	+	2	271	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ITGAL_ENST00000358164.5_Missense_Mutation_p.R31W|Y_RNA_ENST00000410769.1_RNA|ITGAL_ENST00000433423.2_Missense_Mutation_p.R31W|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Missense_Mutation_p.R31W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	31					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)	CCTGGACGTGCGGGGCGCGCG	0.706																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				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						c.(91-93)Cgg>Tgg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						17	20	19					16																	30485546		2190	4281	6471	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30485546C>T		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.91C>T	16.37:g.30485546C>T	ENSP00000349252:p.Arg31Trp					ITGAL_ENST00000454514.2_Missense_Mutation_p.R31W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R31W|ITGAL_ENST00000358164.5_Missense_Mutation_p.R31W	p.R31W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			2	271	+			31					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.91C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874624	0.72180	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514;ENST00000433423	T;T;D;T	0.92299	-0.68;-0.68;-3.01;1.69	4.73	-2.77	0.05877	.	1.151710	0.06520	N	0.739556	D	0.89354	0.6691	M	0.76328	2.33	0.09310	N	1	B;B;D	0.63046	0.013;0.013;0.992	B;B;B	0.42386	0.003;0.002;0.386	T	0.80906	-0.1173	10	0.87932	D	0	.	3.7092	0.08413	0.4155:0.3454:0.0:0.2391	.	31;31;31	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	W	31	ENSP00000349252:R31W;ENSP00000350886:R31W;ENSP00000408615:R31W;ENSP00000409377:R31W	ENSP00000349252:R31W	R	+	1	2	ITGAL	30393047	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.456000	0.06754	-0.193000	0.10415	0.467000	0.42956	CGG		0.706	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	15	0	0	0	1	0	7	15					T	30485546	C	T	30485546	3	4	284	1	0	0	0	0	1	0	0	0	7886	759	27	1	97	1	ITGAL	16	30485546	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		30485546	59869207	46	30179											
ZNF689	115509	broad.mit.edu	37	chr16	30616099	30616101	+	In_Frame_Del	DEL	GAG	GAG	-													gccggtgactgaccaggcgaGaggaggaggagaagcgccgc							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30616099_30616101delGAG	ENST00000287461.3	-	3	1324_1326	c.987_989delCTC	c.(985-990)tcctct>tct	p.329_330SS>S	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	329					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)			GACCAGGCGAGAGGAGGAGGAGA	0.7																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(985-990)tct>tc		zinc finger protein 689																																				SO:0001651	inframe_deletion	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616099_30616101delGAG	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.987_989delCTC	16.37:g.30616108_30616110delGAG	ENSP00000287461:p.Ser330del					RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	p.SS329del	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	1324_1326	-			329					Q658J5	In_Frame_Del	DEL	ENST00000287461.3	37	c.987_989delCTC	CCDS10686.1																																																																																				0.7	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		14	39						14	39	---	---	---	---	-	30616101	GAG	-	30616099	7	5	284	1	0	1	0	1	0	0	0	0	18091	942	33	0	517	0	ZNF689	16	30616099	In_Frame_Del	DEL	GAG	TCGA-HT-7875-01A-11D-2395-08	130553	30616099	59738654	47	30180											
BCMO1	53630	broad.mit.edu	37	chr16	81324040	81324040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagctttacggaattggCccgtgcctctgttgatgtcg	11	10	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:81324040C>T	ENST00000258168.2	+	11	1963	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	BCMO1_ENST00000425577.2_Missense_Mutation_p.A432V	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACGGAATTGGCCCGTGCCTCT	0.458																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(1501-1503)gCc>gTc		beta-carotene 15,15'-monooxygenase 1							98	92	94					16																	81324040		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81324040C>T																												ENST00000258168.2:c.1502C>T	16.37:g.81324040C>T	ENSP00000258168:p.Ala501Val					BCMO1_ENST00000425577.2_Missense_Mutation_p.A432V	p.A501V	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			11	1963	+			501						Missense_Mutation	SNP	ENST00000258168.2	37	c.1502C>T	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343141	0.61073	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.97161	-4.27;-4.27	6.14	6.14	0.99180	.	0.109610	0.64402	D	0.000009	D	0.98695	0.9562	M	0.91140	3.18	0.46725	D	0.999174	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.977	D	0.99136	1.0854	10	0.87932	D	0	-16.9631	15.1512	0.72700	0.0:0.859:0.141:0.0	.	432;501	E7EM88;Q9HAY6	.;BCDO1_HUMAN	V	501;432	ENSP00000258168:A501V;ENSP00000400586:A432V	ENSP00000258168:A501V	A	+	2	0	BCMO1	79881541	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	2.187000	0.42602	2.937000	0.99478	0.650000	0.86243	GCC		0.458	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			4	126	0	0	0	1	0	4	126					T	81324040	C	T	81324040	3	4	284	1	0	0	0	0	1	0	0	0	1384	739	26	2	1544	2	BCMO1	16	81324040	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	50707941	81324040	9030713	48	30181											
MED1	5469	broad.mit.edu	37	chr17	37565972	37565972	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agatcagctggatcagtgtaTggattttcattattgttagt	10	4	3	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:37565972T>A	ENST00000300651.6	-	17	2725	c.2502A>T	c.(2500-2502)ccA>ccT	p.P834P	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)		GATCAGTGTATGGATTTTCAT	0.433										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				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						c.(2500-2502)ccA>ccT		mediator complex subunit 1							62	64	63					17																	37565972		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565972T>A	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.2502A>T	17.37:g.37565972T>A		HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.P834P	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	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)	17	2725	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	834			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.2502A>T	CCDS11336.1																																																																																				0.433	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		20	84	0	0	0	1	0	20	84					A	37565972	T	A	37565972	2	1	284	1	0	0	0	0	0	0	0	1	9425	1451	51	5		5	MED1	17	37565972	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08		37565972	43629238	49	30182											
SMURF2	64750	broad.mit.edu	37	chr17	62574689	62574689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgttgcgttgtccTctgttctgtaaaattaataa	8	8	2	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:62574689T>C	ENST00000262435.9	-	9	965	c.778A>G	c.(778-780)Agg>Ggg	p.R260G	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	260	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|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)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCGTTGTCCTCTGTTCTGTA	0.373																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(778-780)Agg>Ggg		SMAD specific E3 ubiquitin protein ligase 2							123	103	110					17																	62574689		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62574689T>C	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.778A>G	17.37:g.62574689T>C	ENSP00000262435:p.Arg260Gly					SMURF2_ENST00000578200.1_Intron	p.R260G	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		9	965	-	Breast(5;1.32e-14)		260			WW 2.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.778A>G	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954901	0.34471	.	.	ENSG00000108854	ENST00000262435	D	0.83914	-1.78	5.63	5.63	0.86233	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92471	0.5985	10	0.87932	D	0	.	16.1339	0.81465	0.0:0.0:0.0:1.0	.	260	Q9HAU4	SMUF2_HUMAN	G	260	ENSP00000262435:R260G	ENSP00000262435:R260G	R	-	1	2	SMURF2	60005151	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.543000	0.53633	2.271000	0.75665	0.533000	0.62120	AGG		0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		15	26	0	0	0	1	0	15	26					C	62574689	T	C	62574689	3	2	284	1	0	0	0	0	1	0	0	0	14820	1550	54	3	1512	3	SMURF2	17	62574689	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	25008717	62574689	18620521	50	30183											
CCDC123	84902	broad.mit.edu	37	chr19	33392289	33392292	+	Frame_Shift_Del	DEL	CTTT	CTTT	-													tcaactcctccatctcagccCtttctttctcttcttccttc							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:33392289_33392292delCTTT	ENST00000305768.5	-	15	1680_1683	c.1592_1595delAAAG	c.(1591-1596)gaaaggfs	p.ER531fs		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	531					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CATCTCAGCCCTTTCTTTCTCTTC	0.451																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1591-1596)ggfs		centrosomal protein 89kDa																																				SO:0001589	frameshift_variant	84902					centrosome|spindle pole		g.chr19:33392289_33392292delCTTT	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1592_1595delAAAG	19.37:g.33392293_33392296delCTTT	ENSP00000306105:p.Glu531fs						p.ER531fs	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			15	1680_1683	-			531					B9EGA6|Q8N5J8	Frame_Shift_Del	DEL	ENST00000305768.5	37	c.1592_1595delAAAG	CCDS32987.1																																																																																				0.451	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		27	67						27	67	---	---	---	---	-	33392292	CTTT	-	33392289	7	5	284	1	0	1	0	1	0	0	0	0	2759	681	24	0	776	0	CCDC123	19	33392289	Frame_Shift_Del	DEL	CTTT	TCGA-HT-7875-01A-11D-2395-08		33392289	25736694	51	30184											
CIC	23152	broad.mit.edu	37	chr19	42796331	42796331	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggacccacctctcagcctCagaaggtcctgttgccctcc	8	18	2	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796331C>T	ENST00000575354.2	+	12	3020	c.2980C>T	c.(2980-2982)Cag>Tag	p.Q994*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1903*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q994*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	994	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q994*(1)		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)				CTCTCAGCCTCAGAAGGTCCT	0.662			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Nonsense(1)	p.Q994*(1)	central_nervous_system(1)	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						c.(5707-5709)Cag>Tag		capicua transcriptional repressor							49	57	54					19																	42796331		2203	4299	6502	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796331C>T	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.2980C>T	19.37:g.42796331C>T	ENSP00000458663:p.Gln994*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q994*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q994*	p.Q1903*			Q96RK0	CIC_HUMAN			13	5775	+		Prostate(69;0.00682)	994					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.5707C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293305	0.60086	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9252	16.1439	0.81551	0.0:1.0:0.0:0.0	.	.	.	.	X	994	.	ENSP00000160740:Q994X	Q	+	1	0	CIC	47488171	0.999000	0.42202	1.000000	0.80357	0.360000	0.29518	5.065000	0.64344	2.686000	0.91538	0.561000	0.74099	CAG		0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			24	38	0	0	0	1	0	24	38					T	42796331	C	T	42796331	4	4	284	1	0	0	0	0	0	1	0	0	3424	827	29	2	3026	2	CIC	19	42796331	Nonsense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	9404042	42796331	16332652	52	30185											
CIC	23152	broad.mit.edu	37	chr19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-													cccccaagcctggtctacacTgtggccaccagcacaacccc							TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796905_42796906delTG	ENST00000575354.2	+	14	3403_3404	c.3363_3364delTG	c.(3361-3366)actgtgfs	p.V1122fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V2030fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1121fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1122	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)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(6085-6090)actgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796905_42796906delTG	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.3363_3364delTG	19.37:g.42796907_42796908delTG	ENSP00000458663:p.Val1122fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TV1121fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV1120fs	p.TV2029fs			Q96RK0	CIC_HUMAN			15	6155_6156	+		Prostate(69;0.00682)	1121					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6087_6088delTG	CCDS12601.1																																																																																				0.668	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			19	79						19	79	---	---	---	---	-	42796906	TG	-	42796905	7	5	284	1	0	1	0	1	0	0	0	0	3424	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-HT-7875-01A-11D-2395-08	574	42796905	16332078	53	30186											
CBLC	23624	broad.mit.edu	37	chr19	45281321	45281321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgagtcccccttcgctgCgggacctgctgccccgcaca	11	19	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:45281321C>T	ENST00000270279.3	+	1	196	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	CBLC_ENST00000341505.4_Missense_Mutation_p.R45W	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	45	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				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)				CCCTTCGCTGCGGGACCTGCT	0.746			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(133-135)Cgg>Tgg		Cbl proto-oncogene C, E3 ubiquitin protein ligase							18	21	20					19																	45281321		2105	4129	6234	SO:0001583	missense	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45281321C>T	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.133C>T	19.37:g.45281321C>T	ENSP00000270279:p.Arg45Trp					CBLC_ENST00000341505.4_Missense_Mutation_p.R45W	p.R45W	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			1	196	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	45			4H.|Cbl-PTB.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	c.133C>T	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	16.35	3.097878	0.56075	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.76448	-1.02;-1.02	3.45	2.29	0.28610	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.126578	0.33959	N	0.004384	D	0.82912	0.5140	M	0.72479	2.2	0.33582	D	0.600025	D;D	0.76494	0.999;0.999	D;P	0.63488	0.915;0.872	D	0.85983	0.1484	10	0.72032	D	0.01	-25.8667	8.0425	0.30529	0.0:0.7478:0.2522:0.0	.	45;45	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	W	45	ENSP00000270279:R45W;ENSP00000340250:R45W	ENSP00000270279:R45W	R	+	1	2	CBLC	49973161	0.887000	0.30362	0.988000	0.46212	0.325000	0.28411	0.044000	0.13992	1.930000	0.55929	0.556000	0.70494	CGG		0.746	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		5	45	0	0	0	1	0	5	45					T	45281321	C	T	45281321	3	4	284	1	0	0	0	0	1	0	0	0	2702	759	27	1	135	1	CBLC	19	45281321	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2484416	45281321	13847662	54	30187											
SMARCB1	6598	broad.mit.edu	37	chr22	24176338	24176338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttccaggcggatgaggCgtcttgccaacacggccccg	12	16	2	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:24176338C>T	ENST00000263121.7	+	9	1325	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SMARCB1_ENST00000407082.3_Missense_Mutation_p.R331C|SMARCB1_ENST00000344921.6_Missense_Mutation_p.R386C|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R368C	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	377			R -> H (in MRD15). {ECO:0000269|PubMed:22426308}.		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.?(2)|p.L266_*386del(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)				GCGGATGAGGCGTCTTGCCAA	0.647			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"D, N, F, S"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"			M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	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						c.(1156-1158)Cgt>Tgt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							35	27	30					22																	24176338		2194	4298	6492	SO:0001583	missense	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24176338C>T	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.1129C>T	22.37:g.24176338C>T	ENSP00000263121:p.Arg377Cys					SMARCB1_ENST00000407082.3_Missense_Mutation_p.R331C|SMARCB1_ENST00000263121.7_Missense_Mutation_p.R377C|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R368C	p.R386C			Q12824	SNF5_HUMAN			9	1363	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	377					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.1156C>T	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021178	0.54576	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97731	-4.43;-4.51;-4.46;-4.3	5.07	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;P	0.66084	0.941;0.751;0.875	D	0.98789	1.0735	10	0.87932	D	0	-2.1511	12.9974	0.58654	0.0:0.9214:0.0:0.0786	.	386;368;377	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	C	386;377;368;331	ENSP00000340883:R386C;ENSP00000263121:R377C;ENSP00000383984:R368C;ENSP00000385226:R331C	ENSP00000263121:R377C	R	+	1	0	SMARCB1	22506338	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	5.759000	0.68785	1.293000	0.44690	-0.284000	0.09977	CGT		0.647	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		3	8	0	0	0	1	0	3	8					T	24176338	C	T	24176338	3	4	284	1	0	0	0	0	1	0	0	0	14774	768	27	1	1163	1	SMARCB1	22	24176338	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		24176338	27128228	55	30188											
XPNPEP3	63929	broad.mit.edu	37	chr22	41322384	41322384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctctcatcctttctgCagactgtcccaaagagatga	6	14	3	3	rs144166618		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:41322384C>T	ENST00000357137.4	+	10	1553	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A467V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	490					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATCCTTTCTGCAGACTGTCCC	0.498																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1468-1470)gCa>gTa		X-prolyl aminopeptidase (aminopeptidase P) 3, putative		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	197	183	188		1469	5.5	1	22	dbSNP_134	188	0,8600		0,0,4300	no	missense	XPNPEP3	NM_022098.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	490/508	41322384	2,13004	2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41322384C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1469C>T	22.37:g.41322384C>T	ENSP00000349658:p.Ala490Val					XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A467V	p.A490V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			10	1553	+			490					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1469C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724859	0.68959	4.54E-4	0.0	ENSG00000196236	ENST00000357137;ENST00000544094;ENST00000465561	T;T	0.76839	-1.05;-1.05	5.47	5.47	0.80525	Peptidase M24, structural domain (2);	0.301335	0.35151	N	0.003409	D	0.83492	0.5266	L	0.49699	1.58	0.58432	D	0.999999	D	0.71674	0.998	P	0.57425	0.82	D	0.84723	0.0741	10	0.66056	D	0.02	-15.1791	19.3384	0.94329	0.0:1.0:0.0:0.0	.	490	Q9NQH7	XPP3_HUMAN	V	490;467;11	ENSP00000349658:A490V;ENSP00000441942:A467V	ENSP00000349658:A490V	A	+	2	0	XPNPEP3	39652330	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.512000	0.45485	2.559000	0.86315	0.563000	0.77884	GCA		0.498	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		5	231	0	0	0	1	0	5	231					T	41322384	C	T	41322384	3	4	284	1	0	0	0	0	1	0	0	0	17441	710	25	2	1507	2	XPNPEP3	22	41322384	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	17146046	41322384	9982182	56	30189											
GPR25	2848	broad.mit.edu	37	chr1	200842872	200842872	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgacggccgccgcacgtggGtcgggcccggaggaactcgc	18	15	0	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr1:200842872G>T	ENST00000304244.2	+	1	790	c.707G>T	c.(706-708)gGt>gTt	p.G236V		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	236					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCGCACGTGGGTCGGGCCCGG	0.682																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(706-708)gGt>gTt		G protein-coupled receptor 25							27	32	30					1																	200842872		2187	4287	6474	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200842872G>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.707G>T	1.37:g.200842872G>T	ENSP00000301917:p.Gly236Val						p.G236V	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	790	+			236					A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.707G>T	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151148	0.38021	.	.	ENSG00000170128	ENST00000304244	T	0.43688	0.94	4.52	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.243054	0.20275	U	0.095583	T	0.46908	0.1417	L	0.50919	1.6	0.20638	N	0.999876	P	0.41624	0.757	P	0.50617	0.646	T	0.34129	-0.9841	10	0.62326	D	0.03	-0.7626	8.7369	0.34534	0.0:0.1656:0.6632:0.1712	.	236	O00155	GPR25_HUMAN	V	236	ENSP00000301917:G236V	ENSP00000301917:G236V	G	+	2	0	GPR25	199109495	0.000000	0.05858	0.866000	0.34008	0.464000	0.32679	0.413000	0.21148	0.845000	0.35118	0.462000	0.41574	GGT		0.682	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		6	95	1	0	0.0293803	1	0.0303935	6	95					T	200842872	G	T	200842872	3	4	285	1	0	0	0	0	1	0	0	0	6683	1261	44	4	709	4	GPR25	1	200842872	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		200842872	48407749	1	30190											
SNRNP200	23020	broad.mit.edu	37	chr2	96959095	96959116	+	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TAGAAAGGTGGCTACATCTTCA	-													cccttggcagggtcaacacgTagaaaggtggctacatcttc							TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:96959095_96959116delTAGAAAGGTGGCTACATCTTCA	ENST00000323853.5	-	15	2051_2072	c.1974_1995delTGAAGATGTAGCCACCTTTCTA	c.(1972-1995)tatgaagatgtagccacctttctafs	p.YEDVATFL658fs	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	658	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTA	0.495																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(1972-1995)tafs		small nuclear ribonucleoprotein 200kDa (U5)																																				SO:0001589	frameshift_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96959095_96959116delTAGAAAGGTGGCTACATCTTCA	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1974_1995delTGAAGATGTAGCCACCTTTCTA	2.37:g.96959095_96959116delTAGAAAGGTGGCTACATCTTCA	ENSP00000317123:p.Tyr658fs					SNRNP200_ENST00000349783.5_Intron	p.YEDVATFL658fs	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			15	2051_2072	-			658			Helicase ATP-binding 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Frame_Shift_Del	DEL	ENST00000323853.5	37	c.1974_1995delTGAAGATGTAGCCACCTTTCTA	CCDS2020.1																																																																																				0.495	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		17	114						17	114	---	---	---	---	-	96959116	TAGAAAGGTGGCTACATCTTCA	-	96959095	7	5	285	1	0	1	0	1	0	0	0	0	14852	1625	57	0	4539	0	SNRNP200	2	96959095	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TCGA-HT-7877-01A-11D-2395-08		96959095	146240278	2	30191											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	24	0	0	0	1	0	21	24					T	209113112	C	T	209113112	3	4	285	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	112154017	209113112	34086261	3	30192											
NIPAL1	152519	broad.mit.edu	37	chr4	48037778	48037778	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtttacaaacatccGctggtctttgttttgctggc	9	10	1	0	rs200487407		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr4:48037778G>T	ENST00000295461.5	+	6	888	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20631	0.0		0.0	False		,,,				2504	0.0					ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(820-822)ccG>ccT		NIPA-like domain containing 1		G		0,4406		0,0,2203	100	90	94		822	-11.3	0	4		94	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	NIPAL1	NM_207330.1		0,5,6498	TT,TG,GG		0.0581,0.0,0.0384		274/411	48037778	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	152519					integral to membrane		g.chr4:48037778G>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.822G>T	4.37:g.48037778G>T							p.P274P	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			6	888	+			274					B3KTB0|Q68DA9	Silent	SNP	ENST00000295461.5	37	c.822G>T	CCDS3479.1																																																																																				0.428	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		4	60	1	0	1	1	1	4	60					T	48037778	G	T	48037778	2	4	285	1	0	0	0	0	0	0	0	1	10424	1074	38	4		4	NIPAL1	4	48037778	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		48037778	143116498	4	30193											
AARS2	57505	broad.mit.edu	37	chr6	44270856	44270856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcttgggaggctgggtcCaatgcatgggccacgggcac	18	11	0	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr6:44270856C>T	ENST00000244571.4	-	16	2204	c.2202G>A	c.(2200-2202)ttG>ttA	p.L734L	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)			AGGCTGGGTCCAATGCATGGG	0.627																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2200-2202)ttG>ttA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						56	60	59					6																	44270856		2203	4300	6503	SO:0001819	synonymous_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270856C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2202G>A	6.37:g.44270856C>T						TMEM151B_ENST00000438774.2_Intron	p.L734L	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2204	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		734						Silent	SNP	ENST00000244571.4	37	c.2202G>A	CCDS34464.1																																																																																				0.627	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		6	83	0	0	0	1	0	6	83					T	44270856	C	T	44270856	2	4	285	1	0	0	0	0	0	0	0	1	20	593	21	2		2	AARS2	6	44270856	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		44270856	126844211	5	30194											
IDE	3416	broad.mit.edu	37	chr10	94333744	94333744	+	Frame_Shift_Del	DEL	G	G	-													cggaaggtgctgggcagtgcGgggtgcagaagccacgctag							TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr10:94333744delG	ENST00000265986.6	-	1	89	c.33delC	c.(31-33)cccfs	p.P11fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	11					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)"	TGGGCAGTGCGGGGTGCAGAA	0.716																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(31-33)ccfs		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						15	16	16					10																	94333744		1905	3743	5648	SO:0001589	frameshift_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94333744delG	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.33delC	10.37:g.94333744delG	ENSP00000265986:p.Pro11fs						p.P11fs	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			1	89	-			11					B2R721|B7ZAU2|D3DR35|Q5T5N2	Frame_Shift_Del	DEL	ENST00000265986.6	37	c.33delC	CCDS7421.1																																																																																				0.716	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		2	4						2	4	---	---	---	---	-	94333744	G	-	94333744	7	5	285	1	0	1	0	1	0	0	0	0	7493	1103	39	0	3126	0	IDE	10	94333744	Frame_Shift_Del	DEL	G	TCGA-HT-7877-01A-11D-2395-08		94333744	41201003	6	30195											
ARHGDIB	397	broad.mit.edu	37	chr12	15095522	15095522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtcttgcttgtcatcGtcggtgaagaaggacttgtt	14	6	2	2			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|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)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567																																						ENST00000228945.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						c.(538-540)gaC>gaT		Rho GDP dissociation inhibitor (GDI) beta							266	198	221					12																	15095522		2203	4300	6503	SO:0001819	synonymous_variant	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15095522G>A	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"Endogenous ligands"	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.540C>T	12.37:g.15095522G>A						ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000541546.1_Silent_p.D180D	p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN			6	684	-			180					B5BU79	Silent	SNP	ENST00000228945.4	37	c.540C>T	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814158	0.16537	.	.	ENSG00000111348	ENST00000536592	.	.	.	4.73	-9.03	0.00737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6554	19.0707	0.93134	0.8544:0.0:0.1456:0.0	.	.	.	.	X	174	.	.	R	-	1	2	ARHGDIB	14986789	0.273000	0.24181	0.064000	0.19789	0.971000	0.66376	-0.294000	0.08309	-2.089000	0.00860	-0.145000	0.13849	CGA		0.567	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		63	142	0	0	0	1	0	63	142					A	15095522	G	A	15095522	2	1	285	1	0	0	0	0	0	0	0	1	891	1136	40	1		1	ARHGDIB	12	15095522	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		15095522	118756373	7	30196											
MYO1A	4640	broad.mit.edu	37	chr12	57423554	57423554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgattgaccttcttcacGgcctctgccatcagaacagg	8	15	4	2			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:57423554G>A	ENST00000442789.2	-	26	2981	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	MYO1A_ENST00000300119.3_Silent_p.A898A|TAC3_ENST00000415231.1_5'Flank|MYO1A_ENST00000544473.1_Silent_p.A736A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	898	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTCTTCACGGCCTCTGCCA	0.587																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(2692-2694)gcC>gcT		myosin IA							149	135	140					12																	57423554		2203	4300	6503	SO:0001819	synonymous_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57423554G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2694C>T	12.37:g.57423554G>A						MYO1A_ENST00000300119.3_Silent_p.A898A|MYO1A_ENST00000544473.1_Silent_p.A736A	p.A898A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			26	2981	-			898					Q9UQD7	Silent	SNP	ENST00000442789.2	37	c.2694C>T	CCDS8929.1																																																																																				0.587	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		14	180	0	0	0	1	0	14	180					A	57423554	G	A	57423554	2	1	285	1	0	0	0	0	0	0	0	1	10068	1103	39	1		1	MYO1A	12	57423554	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	42328032	57423554	76428341	8	30197											
FARP1	10160	broad.mit.edu	37	chr13	99076871	99076871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagattaccaaagaatcggCgatgtcatgctgaagaacat	10	7	1	4			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr13:99076871C>T	ENST00000319562.6	+	17	2137	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	FARP1_ENST00000595437.1_Silent_p.G624G|FARP1_ENST00000376586.2_Silent_p.G624G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	624	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)			AAAGAATCGGCGATGTCATGC	0.502																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1870-1872)ggC>ggT		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							133	112	119					13																	99076871		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99076871C>T	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.1872C>T	13.37:g.99076871C>T						FARP1_ENST00000595437.1_Silent_p.G624G|FARP1_ENST00000319562.6_Silent_p.G624G	p.G624G			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		17	2208	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		624			DH.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1872C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637131	0.14386	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.45	-10.9	0.00192	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	.	3.0467	0.06155	0.1742:0.2255:0.3974:0.203	.	.	.	.	V	153	.	.	A	+	2	0	FARP1	97874872	0.000000	0.05858	0.054000	0.19295	0.938000	0.57974	-6.717000	0.00056	-3.115000	0.00240	-0.955000	0.02649	GCG		0.502	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		8	34	0	0	0	1	0	8	34					T	99076871	C	T	99076871	2	4	285	1	0	0	0	0	0	0	0	1	5676	755	27	1		1	FARP1	13	99076871	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		99076871	16093007	9	30198											
PLCB2	5330	broad.mit.edu	37	chr15	40590542	40590542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagagagcagcacctggCggtacatctcagccgaggag	14	12	1	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:40590542C>T	ENST00000260402.3	-	11	1286	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.R346H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R346H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	346	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCACCTGGCGGTACATCTC	0.627																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1036-1038)cGc>cAc		phospholipase C, beta 2							39	44	42					15																	40590542		2109	4250	6359	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40590542C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1037G>A	15.37:g.40590542C>T	ENSP00000260402:p.Arg346His					PLCB2_ENST00000557821.1_Missense_Mutation_p.R346H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R346H	p.R346H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	11	1286	-		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)	346			PI-PLC X-box.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1037G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781418	0.90282	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.66099	-0.19;-0.19	4.38	4.38	0.52667	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.089829	0.51477	D	0.000089	T	0.80914	0.4715	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.97110	1.0;0.756;0.995	D	0.84593	0.0668	10	0.87932	D	0	.	17.4798	0.87670	0.0:1.0:0.0:0.0	.	346;346;346	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	H	346	ENSP00000260402:R346H;ENSP00000411991:R346H	ENSP00000260402:R346H	R	-	2	0	PLCB2	38377834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.775000	0.62346	2.438000	0.82558	0.563000	0.77884	CGC		0.627	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			40	59	0	0	0	1	0	40	59					T	40590542	C	T	40590542	3	4	285	1	0	0	0	0	1	0	0	0	12028	768	27	1	2608	1	PLCB2	15	40590542	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		40590542	61940850	10	30199											
SPTBN5	51332	broad.mit.edu	37	chr15	42178327	42178327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggttctgggcttggagtgCtgtctgtagccggaagagca	17	8	2	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:42178327C>T	ENST00000320955.6	-	7	1353	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	376					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)		GCTTGGAGTGCTGTCTGTAGC	0.667																																						ENST00000320955.6																			0				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						c.(1126-1128)Gca>Aca		spectrin, beta, non-erythrocytic 5							15	17	16					15																	42178327		1977	4141	6118	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178327C>T	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.1126G>A	15.37:g.42178327C>T	ENSP00000317790:p.Ala376Thr						p.A376T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	7	1353	-		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)	376						Missense_Mutation	SNP	ENST00000320955.6	37	c.1126G>A		.	.	.	.	.	.	.	.	.	.	C	3.009	-0.204303	0.06180	.	.	ENSG00000137877	ENST00000320955	T	0.53206	0.63	4.84	1.84	0.25277	.	0.837485	0.10618	N	0.653704	T	0.25938	0.0632	N	0.04880	-0.145	0.09310	N	1	B	0.18310	0.027	B	0.22152	0.038	T	0.23119	-1.0197	10	0.38643	T	0.18	.	7.7053	0.28646	0.0:0.5005:0.0:0.4995	.	376	Q9NRC6	SPTN5_HUMAN	T	376	ENSP00000317790:A376T	ENSP00000317790:A376T	A	-	1	0	SPTBN5	39965619	0.000000	0.05858	0.004000	0.12327	0.078000	0.17371	0.863000	0.27913	0.448000	0.26722	0.655000	0.94253	GCA		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		13	29	0	0	0	1	0	13	29					T	42178327	C	T	42178327	3	4	285	1	0	0	0	0	1	0	0	0	15121	797	28	2	10146	2	SPTBN5	15	42178327	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	1587785	42178327	60353065	11	30200											
PER1	5187	broad.mit.edu	37	chr17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggtgggccagggggTggagggtggcacgggtgagg	27	4	0	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:8047060T>G	ENST00000317276.4	-	19	2833	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	866	Pro-rich.				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)	p.T866P(1)		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						GGCCAGGGGGTGGAGGGTGGC	0.667			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		1	Substitution - Missense(1)	p.T866P(1)	central_nervous_system(1)	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						c.(2596-2598)Acc>Ccc	Other conserved DNA damage response genes	period circadian clock 1																																				SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047060T>G	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.2596A>C	17.37:g.8047060T>G	ENSP00000314420:p.Thr866Pro					PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P	p.T866P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			19	2833	-			866			Pro-rich.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2596A>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	7.008	0.556287	0.13436	.	.	ENSG00000179094	ENST00000317276	T	0.14893	2.47	5.42	1.94	0.25998	.	0.240541	0.41823	D	0.000811	T	0.12774	0.0310	L	0.58510	1.815	0.80722	D	1	B	0.21381	0.055	B	0.15052	0.012	T	0.19976	-1.0289	10	0.42905	T	0.14	-6.4874	0.9995	0.01474	0.1839:0.4226:0.1778:0.2157	.	866	O15534	PER1_HUMAN	P	866	ENSP00000314420:T866P	ENSP00000314420:T866P	T	-	1	0	PER1	7987785	0.361000	0.24972	1.000000	0.80357	0.452000	0.32318	-0.124000	0.10595	1.268000	0.44264	-0.468000	0.05107	ACC		0.667	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			6	21	0	0	0	1	0	6	21					G	8047060	T	G	8047060	3	3	285	1	0	0	0	0	1	0	0	0	11729	1696	59	5	1296	5	PER1	17	8047060	Missense_Mutation	SNP	T	TCGA-HT-7877-01A-11D-2395-08		8047060	73148150	12	30201											
VPS25	84313	broad.mit.edu	37	chr17	40926665	40926665	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttaaccttaaaccaggAaagcttcctgtggagtcgat	8	11	0	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:40926665A>G	ENST00000253794.2	+	3	241	c.201A>G	c.(199-201)cgA>cgG	p.R67R		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	67					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTAAACCAGGAAAGCTTCCTG	0.453																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.e3-1		vacuolar protein sorting 25 homolog (S. cerevisiae)							116	111	113					17																	40926665		2203	4300	6503	SO:0001630	splice_region_variant	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40926665A>G	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.200-1A>G	17.37:g.40926665A>G							p.R67_splice	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	3	241	+		Breast(137;0.00104)	67					B2R581	Splice_Site	SNP	ENST00000253794.2	37	c.199_splice	CCDS11438.1																																																																																				0.453	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353	Silent	7	22	0	0	0	1	0	7	22					G	40926665	A	G	40926665	5	3	285	1	0	0	0	0	0	0	1	0	17193	260	9	3	211	3	VPS25	17	40926665	Splice_Site	SNP	A	TCGA-HT-7877-01A-11D-2395-08	32879605	40926665	40268545	13	30202											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	13	13	0	2			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000572681.2_Missense_Mutation_p.R1110W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		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)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	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						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65	70	68					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	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.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	77	0	0	0	1	0	18	77					T	42791715	C	T	42791715	3	4	285	1	0	0	0	0	1	0	0	0	3424	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		42791715	16337268	14	30203											
TPTE	7179	broad.mit.edu	37	chr21	10906911	10906911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggagctatacttaatcGgatccagctacaacatcact	9	10	1	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:10906911G>A	ENST00000361285.4	-	24	1979	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_ENST00000298232.7_Silent_p.S532S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.S512S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	550					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398																																						ENST00000298232.7																			2	Substitution - coding silent(2)	p.S550S(1)|p.S532S(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1594-1596)tcC>tcT		transmembrane phosphatase with tensin homology							129	114	119					21																	10906911		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906911G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1650C>T	21.37:g.10906911G>A						TPTE_ENST00000342420.5_Silent_p.S512S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.S550S	p.S532S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1963	-			550			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1596C>T	CCDS13560.2																																																																																				0.398	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	69	0	0	0	1	0	5	69					A	10906911	G	A	10906911	2	1	285	1	0	0	0	0	0	0	0	1	16427	1103	39	1		1	TPTE	21	10906911	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		10906911	37222984	15	30204											
NOL12	79159	broad.mit.edu	37	chr22	38087302	38087302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtaccagcaaggcccagCgccgccgtctcacaggcaaa	10	17	1	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr22:38087302C>T	ENST00000359114.4	+	6	671	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	201						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAAGGCCCAGCGCCGCCGTCT	0.632																																						ENST00000359114.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(601-603)Cgc>Tgc		nucleolar protein 12							44	45	45					22																	38087302		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38087302C>T	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.601C>T	22.37:g.38087302C>T	ENSP00000352021:p.Arg201Cys					NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	p.R201C	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			6	671	+	Melanoma(58;0.0574)		201						Missense_Mutation	SNP	ENST00000359114.4	37	c.601C>T	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846169	0.71603	.	.	ENSG00000256872	ENST00000359114	D	0.84298	-1.83	6.08	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	M	0.66939	2.045	0.80722	D	1	B	0.23128	0.08	B	0.15052	0.012	T	0.81765	-0.0783	10	0.87932	D	0	-7.6498	13.3568	0.60633	0.0:0.927:0.0:0.073	.	201	Q9UGY1	NOL12_HUMAN	C	201	ENSP00000352021:R201C	ENSP00000352021:R201C	R	+	1	0	Z83844.2	36417248	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	2.595000	0.46197	1.595000	0.50050	-0.229000	0.12294	CGC		0.632	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		23	41	0	0	0	1	0	23	41					T	38087302	C	T	38087302	3	4	285	1	0	0	0	0	1	0	0	0	10522	768	27	1	623	1	NOL12	22	38087302	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		38087302	13217264	16	30205											
ARHGEF9	23229	broad.mit.edu	37	chrX	62893977	62893977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatattctctaaacgtcGcttgcgttcgttgatctgct	8	10	3	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:62893977G>A	ENST00000253401.6	-	6	1665	c.865C>T	c.(865-867)Cga>Tga	p.R289*	ARHGEF9_ENST00000374870.4_Nonsense_Mutation_p.R187*|ARHGEF9-IT1_ENST00000420917.1_RNA|ARHGEF9_ENST00000374872.1_Nonsense_Mutation_p.R268*|ARHGEF9_ENST00000437457.2_Nonsense_Mutation_p.R236*|ARHGEF9_ENST00000433323.2_Nonsense_Mutation_p.R60*|ARHGEF9_ENST00000374878.1_Nonsense_Mutation_p.R287*|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	289					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)	p.R287*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCTAAACGTCGCTTGCGTTCG	0.458																																						ENST00000253401.6																			1	Substitution - Nonsense(1)	p.R287*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(865-867)Cga>Tga		Cdc42 guanine nucleotide exchange factor (GEF) 9							115	87	96					X																	62893977		2203	4300	6503	SO:0001587	stop_gained	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62893977G>A	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.865C>T	X.37:g.62893977G>A	ENSP00000253401:p.Arg289*					ARHGEF9_ENST00000374872.1_Nonsense_Mutation_p.R268*|ARHGEF9_ENST00000374878.1_Nonsense_Mutation_p.R287*|ARHGEF9_ENST00000433323.2_Nonsense_Mutation_p.R60*|ARHGEF9_ENST00000437457.2_Nonsense_Mutation_p.R236*|ARHGEF9_ENST00000374870.4_Nonsense_Mutation_p.R187*|ARHGEF9_ENST00000495564.1_5'UTR	p.R289*	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			6	1665	-			289					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Nonsense_Mutation	SNP	ENST00000253401.6	37	c.865C>T	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	46	12.897766	0.99704	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	.	.	.	5.61	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8884	0.52615	0.0:0.0:0.5501:0.4498	.	.	.	.	X	289;287;236;187;60;268	.	ENSP00000253401:R289X	R	-	1	2	ARHGEF9	62810702	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	1.470000	0.35354	1.085000	0.41206	0.600000	0.82982	CGA		0.458	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			4	63	0	0	0	1	0	4	63					A	62893977	G	A	62893977	4	1	285	1	0	0	0	0	0	1	0	0	912	1095	38	1	705	1	ARHGEF9	23	62893977	Nonsense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		62893977	92376583	17	30206											
RAB33A	9363	broad.mit.edu	37	chrX	129306042	129306042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggtccgggggagatggcGcagcccatcctgggccatgg	17	12	0	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:129306042G>A	ENST00000257017.4	+	1	420	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	2					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGATGGCGCAGCCCATCC	0.692																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(4-6)gcG>gcA		RAB33A, member RAS oncogene family							18	17	17					X																	129306042		2197	4296	6493	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129306042G>A	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.6G>A	X.37:g.129306042G>A							p.A2A	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			1	420	+			2					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.6G>A	CCDS14621.1																																																																																				0.692	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		16	32	0	0	0	1	0	16	32					A	129306042	G	A	129306042	2	1	285	1	0	0	0	0	0	0	0	1	12922	1074	38	1		1	RAB33A	23	129306042	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	66412065	129306042	25964518	18	30207											
MAMLD1	10046	broad.mit.edu	37	chrX	149638921	149638921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgccaccaccaccaccccCattcagcccccagagcctca	4	23	2	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:149638921C>G	ENST00000370401.2	+	4	1386	c.1076C>G	c.(1075-1077)cCa>cGa	p.P359R	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	359	Poly-Pro.		P -> S (in dbSNP:rs41313406). {ECO:0000269|PubMed:17086185}.		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)					ccaccacccccaTTCAGCCCC	0.612																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1075-1077)cCa>cGa		mastermind-like domain containing 1							82	66	72					X																	149638921		2202	4300	6502	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638921C>G	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.1076C>G	X.37:g.149638921C>G	ENSP00000359428:p.Pro359Arg					MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359R	p.P359R			Q13495	MAMD1_HUMAN			4	1386	+	Acute lymphoblastic leukemia(192;6.56e-05)		359		P -> S (in dbSNP:rs41313406).	Poly-Pro.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1076C>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	2.342	-0.350972	0.05173	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	1.18	0.111	0.14619	.	0.161882	0.29699	N	0.011432	T	0.74023	0.3662	M	0.71581	2.175	0.09310	N	1	D;D;B;P	0.89917	1.0;1.0;0.386;0.923	D;D;B;P	0.91635	0.999;0.998;0.167;0.504	T	0.62053	-0.6935	9	.	.	.	-0.7732	4.5658	0.12186	0.0:0.5867:0.4133:0.0	.	321;334;334;359	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	R	321;359;334;359;334	ENSP00000359428:P359R;ENSP00000414517:P334R;ENSP00000262858:P359R;ENSP00000397438:P334R	.	P	+	2	0	MAMLD1	149389579	0.086000	0.21541	0.000000	0.03702	0.094000	0.18550	3.358000	0.52284	-0.025000	0.13918	0.600000	0.82982	CCA		0.612	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		45	166	0	0	0	1	0	45	166					G	149638921	C	G	149638921	3	3	285	1	0	0	0	0	1	0	0	0	9208	594	21	4	1086	4	MAMLD1	23	149638921	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	20332879	149638921	5631639	19	30208											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		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)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	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						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	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.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	172						8	172	---	---	---	---	-	150817144	GCT	-	150817142	7	5	285	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-HT-7877-01A-11D-2395-08	1178221	150817142	4453418	20	30209											
G6PD	2539	broad.mit.edu	37	chrX	153762634	153762634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcctcacggaacagggagGagatgtggttggacagccgg	18	8	1	1	rs5030868	byFrequency	TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:153762634G>A	ENST00000393564.2	-	6	675	c.563C>T	c.(562-564)tCc>tTc	p.S188F	G6PD_ENST00000369620.2_Missense_Mutation_p.S188F|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000393562.2_Missense_Mutation_p.S218F	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	188			S -> F (in Sassari/Cagliari; class II; frequent in the Mediterranean; dbSNP:rs5030868). {ECO:0000269|PubMed:2912069}.		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)					GAACAGGGAGGAGATGTGGTT	0.632													G|||	3	0.000794702	0.0	0.0	3775	,	,		14000	0.0		0.0	False		,,,				2504	0.0031					ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	GRCh37	CM880032	G6PD	M	rs5030868	c.(652-654)tCc>tTc		glucose-6-phosphate dehydrogenase		G	PHE/SER,PHE/SER	2,3833		0,2,0,1630,571	99	81	87	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	653,563	5.7	0.8	X	dbSNP_113	87	5,6723		0,3,2,2425,1870	yes	missense,missense	G6PD	NM_000402.3,NM_001042351.1	155,155	0,5,2,4055,2441	AA,AG,A,GG,G		0.0743,0.0522,0.0663	benign,benign	218/546,188/516	153762634	7,10556	2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762634G>A	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.563C>T	X.37:g.153762634G>A	ENSP00000377194:p.Ser188Phe					G6PD_ENST00000369620.2_Missense_Mutation_p.S188F|G6PD_ENST00000393564.2_Missense_Mutation_p.S188F	p.S218F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			6	1036	-	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)		188					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.653C>T	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642734	0.67244	5.22E-4	7.43E-4	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.65	5.65	0.86999	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.177639	0.50627	D	0.000101	D	0.97977	0.9334	M	0.89214	3.015	0.80722	D	1	B;B	0.17465	0.022;0.018	B;B	0.22386	0.039;0.023	D	0.96766	0.9565	10	0.59425	D	0.04	.	15.9286	0.79644	0.0:0.0:1.0:0.0	rs5030868	188;218	P11413;P11413-3	G6PD_HUMAN;.	F	218;188;188;188;189;189;188	ENSP00000377192:S218F;ENSP00000377194:S188F;ENSP00000358633:S188F;ENSP00000395599:S189F;ENSP00000400648:S189F;ENSP00000394690:S188F	ENSP00000291567:S188F	S	-	2	0	G6PD	153415828	1.000000	0.71417	0.835000	0.33067	0.972000	0.66771	6.312000	0.72840	2.361000	0.80049	0.513000	0.50165	TCC		0.632	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		43	106	0	0	0	1	0	43	106					A	153762634	G	A	153762634	3	1	285	1	0	0	0	0	1	0	0	0	6146	1174	41	2	1016	2	G6PD	23	153762634	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08	2945492	153762634	1507926	21	30210											
FAM128A	653784	broad.mit.edu	37	chr2	132241765	132241765	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgccagggccaatactccccCgagggcagcgctgcctttgt	12	16	0	0			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:132241765C>G	ENST00000309451.6	-	3	391	c.346G>C	c.(346-348)Ggg>Cgg	p.G116R	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	116						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)		p.G116R(1)		breast(1)|lung(1)	2						AATACTCCCCCGAGGGCAGCG	0.632																																						ENST00000309451.6																			1	Substitution - Missense(1)	p.G116R(1)	breast(1)	breast(1)|lung(1)	2						c.(346-348)Ggg>Cgg		mitotic spindle organizing protein 2A							48	57	54					2																	132241765		2203	4300	6503	SO:0001583	missense	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132241765C>G	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"	613449	"family with sequence similarity 128, member A"	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.346G>C	2.37:g.132241765C>G	ENSP00000311500:p.Gly116Arg					MZT2A_ENST00000410036.2_5'UTR	p.G116R	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN			3	391	-			116					Q3SWV8|Q8WVB2	Missense_Mutation	SNP	ENST00000309451.6	37	c.346G>C	CCDS42758.1	.	.	.	.	.	.	.	.	.	.	c	6.803	0.517124	0.13005	.	.	ENSG00000173272	ENST00000309451	T	0.35789	1.29	1.47	-2.05	0.07321	.	1.117920	0.06575	N	0.749265	T	0.39064	0.1064	L	0.47716	1.5	0.09310	N	1	P	0.49961	0.93	P	0.51582	0.674	T	0.39375	-0.9617	10	0.66056	D	0.02	-0.1203	6.0671	0.19870	0.0:0.4392:0.0:0.5608	.	116	Q6P582	MZT2A_HUMAN	R	116	ENSP00000311500:G116R	ENSP00000311500:G116R	G	-	1	0	MZT2A	131958235	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.860000	0.04272	-0.625000	0.05604	0.194000	0.17425	GGG		0.632	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			9	104	0	0	0	1	0	9	104					G	132241765	C	G	132241765	3	3	286	1	0	0	0	0	1	0	0	0	5434	652	23	4	134	4	FAM128A	2	132241765	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		132241765	110957608	1	30211											
STAM2	10254	broad.mit.edu	37	chr2	153003685	153003685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctctcacctgagaaccTgctggaggaaaagtaattcc	8	10	2	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:153003685T>C	ENST00000263904.4	-	5	787	c.438A>G	c.(436-438)gcA>gcG	p.A146A	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	146					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CCTGAGAACCTGCTGGAGGAA	0.373																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(436-438)gcA>gcG		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							106	110	109					2																	153003685		2203	4300	6503	SO:0001819	synonymous_variant	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153003685T>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.438A>G	2.37:g.153003685T>C						STAM2_ENST00000465460.1_5'UTR	p.A146A	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	5	787	-			146					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	ENST00000263904.4	37	c.438A>G	CCDS2196.1																																																																																				0.373	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		49	63	0	0	0	1	0	49	63					C	153003685	T	C	153003685	2	2	286	1	0	0	0	0	0	0	0	1	15248	1567	55	3		3	STAM2	2	153003685	Silent	SNP	T	TCGA-HT-7879-01A-11D-2395-08	20761920	153003685	90195688	2	30212											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	66	0	0	0	1	0	17	66					T	209113112	C	T	209113112	3	4	286	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08	56109427	209113112	34086261	3	30213											
TBC1D9	23158	broad.mit.edu	37	chr4	141677165	141677165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcggtgatccacagcgcgTtggccagcaacacctcctcc	9	17	1	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr4:141677165T>C	ENST00000442267.2	-	1	109	c.35A>G	c.(34-36)aAc>aGc	p.N12S	RP11-102N12.3_ENST00000609937.1_lincRNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	12							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)				CCACAGCGCGTTGGCCAGCAA	0.701																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(34-36)aAc>aGc		TBC1 domain family, member 9 (with GRAM domain)							27	32	30					4																	141677165		2101	4242	6343	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141677165T>C	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.35A>G	4.37:g.141677165T>C	ENSP00000411197:p.Asn12Ser						p.N12S	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			1	109	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	12					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.35A>G	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.273815	0.40194	.	.	ENSG00000109436	ENST00000442267	T	0.21932	1.98	2.19	2.19	0.27852	.	0.353829	0.26352	U	0.024878	T	0.17450	0.0419	L	0.42581	1.335	0.42268	D	0.992042	B	0.14012	0.009	B	0.23018	0.043	T	0.06320	-1.0833	10	0.33141	T	0.24	.	10.106	0.42533	0.0:0.0:0.0:1.0	.	12	Q6ZT07	TBCD9_HUMAN	S	12	ENSP00000411197:N12S	ENSP00000411197:N12S	N	-	2	0	TBC1D9	141896615	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.374000	0.59543	0.996000	0.38943	0.254000	0.18369	AAC		0.701	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		7	19	0	0	0	1	0	7	19					C	141677165	T	C	141677165	3	2	286	1	0	0	0	0	1	0	0	0	15624	1725	60	3	3849	3	TBC1D9	4	141677165	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		141677165	49477111	4	30214											
CDC20B	166979	broad.mit.edu	37	chr5	54429276	54429276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtaatatgaatcttcaCctctggttggagtatggaat	9	7	3	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr5:54429276C>T	ENST00000381375.2	-	6	806	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CDC20B_ENST00000296733.1_Missense_Mutation_p.V221M|CDC20B_ENST00000334206.5_Missense_Mutation_p.V221M|CDC20B_ENST00000322374.6_Missense_Mutation_p.V221M			Q86Y33	CD20B_HUMAN	cell division cycle 20B	221										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGAATCTTCACCTCTGGTTGG	0.368																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(661-663)Gtg>Atg		cell division cycle 20B							121	123	122					5																	54429276		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54429276C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.661G>A	5.37:g.54429276C>T	ENSP00000370781:p.Val221Met					CDC20B_ENST00000381375.2_Missense_Mutation_p.V221M|CDC20B_ENST00000322374.6_Missense_Mutation_p.V221M|CDC20B_ENST00000296733.1_Missense_Mutation_p.V221M	p.V221M			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		6	837	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	221					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.661G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583233	0.46006	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.97	3.2	0.36748	.	0.541427	0.15393	N	0.264701	T	0.09423	0.0232	N	0.25647	0.755	0.80722	D	1	P;P;P;P	0.47545	0.897;0.859;0.779;0.859	P;P;B;P	0.51355	0.667;0.487;0.293;0.592	T	0.22906	-1.0203	10	0.72032	D	0.01	-36.7133	4.2436	0.10660	0.0:0.5065:0.1613:0.3321	.	221;221;221;221	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	M	221	ENSP00000335664:V221M;ENSP00000296733:V221M;ENSP00000370781:V221M;ENSP00000315720:V221M	ENSP00000296733:V221M	V	-	1	0	CDC20B	54465033	0.547000	0.26465	0.994000	0.49952	0.723000	0.41478	-0.030000	0.12308	0.683000	0.31428	-0.157000	0.13467	GTG		0.368	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		36	53	0	0	0	1	0	36	53					T	54429276	C	T	54429276	3	4	286	1	0	0	0	0	1	0	0	0	3060	507	18	2	926	2	CDC20B	5	54429276	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		54429276	126485984	5	30215											
PKHD1	5314	broad.mit.edu	37	chr6	51897948	51897948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacagtcacattcacaaTgcgtccatctttcccctgaa	5	14	4	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr6:51897948T>C	ENST00000371117.3	-	29	3519	c.3244A>G	c.(3244-3246)Att>Gtt	p.I1082V	PKHD1_ENST00000340994.4_Missense_Mutation_p.I1082V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1082	IPT/TIG 5.				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)					ACATTCACAATGCGTCCATCT	0.368																																						ENST00000371117.3																			0				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						c.(3244-3246)Att>Gtt		polycystic kidney and hepatic disease 1 (autosomal recessive)							91	88	89					6																	51897948		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51897948T>C	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.3244A>G	6.37:g.51897948T>C	ENSP00000360158:p.Ile1082Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.I1082V	p.I1082V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			29	3519	-	Lung NSC(77;0.0605)		1082			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3244A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	0.184	-1.059579	0.01950	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.75704	-0.96;-0.96	5.99	-6.46	0.01908	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.488110	0.03594	N	0.232265	T	0.24624	0.0597	N	0.03324	-0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12837	-1.0532	10	0.32370	T	0.25	.	7.2055	0.25905	0.0972:0.5113:0.0992:0.2923	.	1082;1082	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1082	ENSP00000360158:I1082V;ENSP00000341097:I1082V	ENSP00000341097:I1082V	I	-	1	0	PKHD1	52005907	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-2.217000	0.01220	-0.606000	0.05746	-0.342000	0.07992	ATT		0.368	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	45	0	0	0	1	0	27	45					C	51897948	T	C	51897948	3	2	286	1	0	0	0	0	1	0	0	0	11971	1464	51	3	9175	3	PKHD1	6	51897948	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		51897948	119217119	6	30216											
DOCK4	9732	broad.mit.edu	37	chr7	111405275	111405275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacaaagaggcttccaTcatctagaaagcacaggaaa	8	9	3	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr7:111405275T>C	ENST00000437633.1	-	38	4148	c.3892A>G	c.(3892-3894)Atg>Gtg	p.M1298V	DOCK4_ENST00000494651.2_Missense_Mutation_p.M181V|DOCK4_ENST00000428084.1_Missense_Mutation_p.M1307V	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1298	DHR-2.				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)				GAGGCTTCCATCATCTAGAAA	0.313																																						ENST00000428084.1																			0				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						c.(3919-3921)Atg>Gtg		dedicator of cytokinesis 4							38	36	37					7																	111405275		1819	4061	5880	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111405275T>C		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.3892A>G	7.37:g.111405275T>C	ENSP00000404179:p.Met1298Val					DOCK4_ENST00000437633.1_Missense_Mutation_p.M1298V|DOCK4_ENST00000494651.2_Missense_Mutation_p.M181V	p.M1307V			Q8N1I0	DOCK4_HUMAN			39	4191	-		Acute lymphoblastic leukemia(1;0.0441)	1298			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3919A>G	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.534375|3.534375	0.64972|0.64972	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156|ENST00000423057;ENST00000445943	T;T;T;T;T|.	0.43294|.	4.11;3.37;4.12;0.96;0.95|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76033|.	0.3931|.	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B|.	0.31790|.	0.23;0.34;0.23;0.23;0.34|.	B;B;B;B;B|.	0.36845|.	0.118;0.234;0.05;0.05;0.155|.	T|.	0.76977|.	-0.2759|.	10|.	0.36615|.	T|.	0.2|.	.|.	15.8422|15.8422	0.78857|0.78857	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	205;181;1343;1298;1307|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	V|W	1286;1307;181;1298;1295;172;181|758;1330	ENSP00000410746:M1307V;ENSP00000440944:M181V;ENSP00000404179:M1298V;ENSP00000406298:M172V;ENSP00000406468:M181V|.	ENSP00000345432:M1295V|.	M|X	-|-	1|3	0|0	DOCK4|DOCK4	111192511|111192511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.800000|7.800000	0.85949|0.85949	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ATG|TGA		0.313	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		2	7	0	0	0	1	0	2	7					C	111405275	T	C	111405275	3	2	286	1	0	0	0	0	1	0	0	0	4689	1435	50	3	2068	3	DOCK4	7	111405275	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		111405275	47733388	7	30217											
ROD1	9991	broad.mit.edu	37	chr9	114989706	114989706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacggaatgttggaaagaTgcagagtggctgatggtgga	16	4	0	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr9:114989706T>C	ENST00000374255.2	-	13	1580	c.1433A>G	c.(1432-1434)cAt>cGt	p.H478R	PTBP3_ENST00000334318.6_Missense_Mutation_p.H481R|PTBP3_ENST00000343327.2_Missense_Mutation_p.H383R|PTBP3_ENST00000374257.1_Missense_Mutation_p.H450R|PTBP3_ENST00000458258.1_Missense_Mutation_p.H484R			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	478	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GTTGGAAAGATGCAGAGTGGC	0.368																																						ENST00000334318.6																			0											c.(1441-1443)cAt>cGt		polypyrimidine tract binding protein 3							114	119	117					9																	114989706		2203	4300	6503	SO:0001583	missense	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:114989706T>C	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1433A>G	9.37:g.114989706T>C	ENSP00000363373:p.His478Arg					PTBP3_ENST00000374257.1_Missense_Mutation_p.H450R|PTBP3_ENST00000374255.2_Missense_Mutation_p.H478R|PTBP3_ENST00000343327.2_Missense_Mutation_p.H383R|PTBP3_ENST00000458258.1_Missense_Mutation_p.H484R	p.H481R	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN			13	1628	-			478			RRM 4.		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	c.1442A>G	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555142	0.86231	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.80847	2.515	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	1.0;1.0;1.0;0.992;1.0;0.999	T	0.01956	-1.1240	10	0.87932	D	0	-8.5003	15.8776	0.79178	0.0:0.0:0.0:1.0	.	450;450;383;481;478;484	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	R	450;481;484;478;383	ENSP00000363375:H450R;ENSP00000334499:H481R;ENSP00000414921:H484R;ENSP00000363373:H478R;ENSP00000340705:H383R	ENSP00000334499:H481R	H	-	2	0	ROD1	114029527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.146000	0.66826	0.482000	0.46254	CAT		0.368	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			49	62	0	0	0	1	0	49	62					C	114989706	T	C	114989706	3	2	286	1	0	0	0	0	1	0	0	0	13519	1464	51	3	237	3	ROD1	9	114989706	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		114989706	26223725	8	30218											
CACNB2	783	broad.mit.edu	37	chr10	18690025	18690025	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgaagaattctgataTctgtgtaagcgcaagggctt	12	6	2	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:18690025T>C	ENST00000324631.7	+	3	273				CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377315.4_Missense_Mutation_p.I22T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AATTCTGATATCTGTGTAAGC	0.507																																						ENST00000377315.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(64-66)aTc>aCc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						129	127	128					10																	18690025		2203	4300	6503	SO:0001627	intron_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690025T>C	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.214-828T>C	10.37:g.18690025T>C						CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron	p.I22T	NM_201570.2	NP_963864.1	Q08289	CACB2_HUMAN			1	284	+			0					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.65T>C	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696882	0.30142	.	.	ENSG00000165995	ENST00000377315	D	0.83673	-1.75	5.67	5.67	0.87782	.	.	.	.	.	T	0.73164	0.3552	N	0.22421	0.69	0.34590	D	0.715435	B;B;B	0.23540	0.087;0.016;0.039	B;B;B	0.23716	0.048;0.011;0.015	T	0.73075	-0.4097	9	0.15066	T	0.55	.	15.9005	0.79373	0.0:0.0:0.0:1.0	.	22;22;22	B7Z1U5;B7Z2U3;Q5VVH1	.;.;.	T	22	ENSP00000366532:I22T	ENSP00000366532:I22T	I	+	2	0	CACNB2	18730031	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	3.685000	0.54678	2.155000	0.67459	0.460000	0.39030	ATC		0.507	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		36	45	0	0	0	1	0	36	45					C	18690025	T	C	18690025	1	2	286	0	1	0	0	0	0	0	0	0	2553	1435	50	3		3	CACNB2	10	18690025	Intron	SNP	T	TCGA-HT-7879-01A-11D-2395-08		18690025	116844722	9	30219											
GAD2	2572	broad.mit.edu	37	chr10	26589805	26589805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaaggtcaatttcttccGcatggtcatctcaaacccag	7	12	4	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:26589805G>A	ENST00000376261.3	+	16	2176	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	GAD2_ENST00000259271.3_Missense_Mutation_p.R558H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	558					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AATTTCTTCCGCATGGTCATC	0.463																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1672-1674)cGc>cAc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						198	177	184					10																	26589805		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589805G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1673G>A	10.37:g.26589805G>A	ENSP00000365437:p.Arg558His					GAD2_ENST00000259271.3_Missense_Mutation_p.R558H	p.R558H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			16	2176	+			558					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1673G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641027	0.87859	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.68479	-0.33;-0.33	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049815	0.85682	N	0.000000	D	0.87748	0.6255	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90484	0.4462	10	0.87932	D	0	-16.611	19.8579	0.96771	0.0:0.0:1.0:0.0	.	558	Q05329	DCE2_HUMAN	H	558	ENSP00000365437:R558H;ENSP00000259271:R558H	ENSP00000259271:R558H	R	+	2	0	GAD2	26629811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	CGC		0.463	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		89	102	0	0	0	1	0	89	102					A	26589805	G	A	26589805	3	1	286	1	0	0	0	0	1	0	0	0	6180	1087	38	1	1735	1	GAD2	10	26589805	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08	7899780	26589805	108944942	10	30220											
SILV	6490	broad.mit.edu	37	chr12	56350746	56350746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttacctgtaatactttcCgtagacatgattgagctggc	8	10	1	3	rs149851365	byFrequency	TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr12:56350746C>T	ENST00000548747.1	-	6	2003	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000536427.1_Silent_p.T405T|PMEL_ENST00000539511.1_Silent_p.T361T|PMEL_ENST00000552882.1_Silent_p.T447T|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.T361T|PMEL_ENST00000548493.1_Silent_p.T447T|PMEL_ENST00000360714.4_Silent_p.T447T|PMEL_ENST00000449260.2_Silent_p.T447T			P40967	PMEL_HUMAN	premelanosome protein	447					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						TAATACTTTCCGTAGACATGA	0.502													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22164	0.0		0.0	False		,,,				2504	0.0					ENST00000548747.1																			0				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						c.(1339-1341)acG>acA		premelanosome protein		C	,,	13,4393	21.2+/-45.6	0,13,2190	153	132	139		1083,1341,1341	-0.2	0.9	12	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PMEL	NM_001200053.1,NM_001200054.1,NM_006928.4	,,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,,	361/576,447/669,447/662	56350746	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56350746C>T	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.1341G>A	12.37:g.56350746C>T						PMEL_ENST00000360714.4_Silent_p.T447T|PMEL_ENST00000449260.2_Silent_p.T447T|PMEL_ENST00000548493.1_Silent_p.T447T|PMEL_ENST00000550464.1_Silent_p.T361T|PMEL_ENST00000552882.1_Silent_p.T447T|PMEL_ENST00000536427.1_Silent_p.T405T|PMEL_ENST00000539511.1_Silent_p.T361T|PMEL_ENST00000550447.1_Intron	p.T447T			P40967	PMEL_HUMAN			6	2003	-			447					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	c.1341G>A	CCDS8897.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.877	-0.458915	0.04508	0.002951	0.0	ENSG00000185664	ENST00000549404	.	.	.	5.56	-0.198	0.13224	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	-4.1855	4.3743	0.11263	0.0:0.2849:0.1649:0.5502	.	.	.	.	R	293	.	.	G	-	1	0	PMEL	54637013	0.957000	0.32711	0.925000	0.36789	0.198000	0.23893	0.016000	0.13377	0.122000	0.18314	-0.290000	0.09829	GGA		0.502	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		34	51	0	0	0	1	0	34	51					T	56350746	C	T	56350746	2	4	286	1	0	0	0	0	0	0	0	1	14322	639	23	1		1	SILV	12	56350746	Silent	SNP	C	TCGA-HT-7879-01A-11D-2395-08		56350746	77501149	11	30221											
CACNA1H	8912	broad.mit.edu	37	chr16	1265549	1265549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgaagatggctacgGgcatgcgcgccctgctggac	15	12	0	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr16:1265549G>A	ENST00000348261.5	+	30	5448	c.5200G>A	c.(5200-5202)Ggc>Agc	p.G1734S	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1728S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1728S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1734					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)	p.G1734C(1)|p.G1728C(1)		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)	GATGGCTACGGGCATGCGCGC	0.721																																						ENST00000348261.5																			2	Substitution - Missense(2)	p.G1734C(1)|p.G1728C(1)	lung(2)	breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5200-5202)Ggc>Agc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						30	35	34					16																	1265549		2056	4185	6241	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1265549G>A	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.5200G>A	16.37:g.1265549G>A	ENSP00000334198:p.Gly1734Ser					CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1728S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1728S	p.G1734S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			30	5448	+		Hepatocellular(780;0.00369)	1734					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.5200G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985435	0.74589	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98585	-5.01;-5.01	3.65	3.65	0.41850	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98485	0.9495	M	0.64997	1.995	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.996;0.999	D;D;D;D;D	0.87578	0.998;0.986;0.979;0.978;0.994	D	0.99278	1.0895	10	0.87932	D	0	.	14.8334	0.70164	0.0:0.0:1.0:0.0	.	480;469;475;1728;1734	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	S	1734;1728	ENSP00000334198:G1734S;ENSP00000351401:G1728S	ENSP00000334198:G1734S	G	+	1	0	CACNA1H	1205550	1.000000	0.71417	0.994000	0.49952	0.810000	0.45777	7.551000	0.82182	2.035000	0.60131	0.491000	0.48974	GGC		0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		12	15	0	0	0	1	0	12	15					A	1265549	G	A	1265549	3	1	286	1	0	0	0	0	1	0	0	0	2545	1232	43	2	5314	2	CACNA1H	16	1265549	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08		1265549	89089204	12	30222											
TP53	7157	broad.mit.edu	37	chr17	7577150	7577151	+	Frame_Shift_Del	DEL	TT	TT	-													agctgttccgtcccagtagaTtaccactactcaggatagga					rs72661119		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7577150_7577151delTT	ENST00000269305.4	-	8	976_977	c.787_788delAA	c.(787-789)aatfs	p.N263fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|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	263	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (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.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.G262fs*2(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)	TCCCAGTAGATTACCACTACTC	0.52		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		29	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(6)|Deletion - In frame(4)|Unknown(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.0?(8)|p.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.G262fs*2(1)	upper_aerodigestive_tract(5)|large_intestine(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|central_nervous_system(2)|stomach(2)|ovary(2)|eye(1)|urinary_tract(1)|breast(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						c.(787-789)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577150_7577151delTT	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.787_788delAA	17.37:g.7577150_7577151delTT	ENSP00000269305:p.Asn263fs	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)				TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.N263fs	p.N263fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	919_920	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	263		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.787_788delAA	CCDS11118.1																																																																																				0.52	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	23						17	23	---	---	---	---	-	7577151	TT	-	7577150	7	5	286	1	0	1	0	1	0	0	0	0	16378	1493	52	0	498	0	TP53	17	7577150	Frame_Shift_Del	DEL	TT	TCGA-HT-7879-01A-11D-2395-08		7577150	73618060	13	30223											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	12	11	0	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cTt	Other conserved DNA damage response genes	tumor protein p53							97	87	90					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>A	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.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	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)				TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	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	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	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;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	44	0	0	0	1	0	22	44					A	7578271	T	A	7578271	3	1	286	1	0	0	0	0	1	0	0	0	16378	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08	1121	7578271	73616939	14	30224											
MLLT1	4298	broad.mit.edu	37	chr19	6270683	6270683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggccgcggacaaacaCcatccagtcgtgagtgaacc	12	14	0	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr19:6270683C>A	ENST00000252674.7	-	2	263	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	34	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACAAACACCATCCAGTCG	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(100-102)Gtg>Ttg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							124	92	103					19																	6270683		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270683C>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.100G>T	19.37:g.6270683C>A	ENSP00000252674:p.Val34Leu		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.V34L	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	263	-			34			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.100G>T	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307719	0.95629	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.71581	2.175	0.80722	D	1	B	0.28880	0.226	B	0.41236	0.351	T	0.69774	-0.5054	9	0.31617	T	0.26	-28.5391	16.6911	0.85322	0.0:1.0:0.0:0.0	.	34	Q03111	ENL_HUMAN	L	34	.	ENSP00000252674:V34L	V	-	1	0	MLLT1	6221683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.537000	0.85549	0.561000	0.74099	GTG		0.622	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		5	46	1	0	0.00198382	1	0.00203743	5	46					A	6270683	C	A	6270683	3	1	286	1	0	0	0	0	1	0	0	0	9625	507	18	4	1623	4	MLLT1	19	6270683	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		6270683	52858300	15	30225											
MYL9	10398	broad.mit.edu	37	chr20	35177631	35177631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcatcctcaaacatggCgccaaggataaagacgacta	8	13	1	1	rs529494337		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr20:35177631C>T	ENST00000279022.2	+	4	602	c.498C>T	c.(496-498)ggC>ggT	p.G166G	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.G112G|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	166	EF-hand 3. {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)				TCAAACATGGCGCCAAGGATA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		9258	0.0		0.0	False		,,,				2504	0.001					ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(496-498)ggC>ggT		myosin, light chain 9, regulatory							87	73	78					20																	35177631		2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177631C>T	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.498C>T	20.37:g.35177631C>T						MYL9_ENST00000346786.2_Silent_p.G112G|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA	p.G166G	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			4	602	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	166			EF-hand 3.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.498C>T	CCDS13276.1																																																																																				0.602	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		4	30	0	0	0	1	0	4	30					T	35177631	C	T	35177631	2	4	286	1	0	0	0	0	0	0	0	1	10054	755	27	1		1	MYL9	20	35177631	Silent	SNP	C	TCGA-HT-7879-01A-11D-2395-08		35177631	27847889	16	30226											
EWSR1	2130	broad.mit.edu	37	chr22	29694857	29694857	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaaacgtccagcacCgagctggagactggcagtgt	16	9	0	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr22:29694857C>T	ENST00000397938.2	+	14	1871	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	EWSR1_ENST00000332050.6_Nonsense_Mutation_p.R445*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.R462*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.R517*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.R480*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.R523*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTCCAGCACCGAGCTGGAGA	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1552-1554)Cga>Tga		EWS RNA-binding protein 1							67	67	67					22																	29694857		2203	4300	6503	SO:0001587	stop_gained	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29694857C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1552C>T	22.37:g.29694857C>T	ENSP00000381031:p.Arg518*					EWSR1_ENST00000406548.1_Nonsense_Mutation_p.R517*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.R523*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.R462*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.R445*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.R480*	p.R518*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			14	1871	+			518					B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Nonsense_Mutation	SNP	ENST00000397938.2	37	c.1552C>T	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.891717|5.891717	0.97074|0.97074	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000360091|ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	.|.	.|.	.|.	5.52|5.52	4.43|4.43	0.53597|0.53597	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|.	0.31918|.	0.0812|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30357|.	-0.9981|.	3|.	.|0.02654	.|T	.|1	.|.	12.7306|12.7306	0.57195|0.57195	0.259:0.741:0.0:0.0|0.259:0.741:0.0:0.0	.|.	.|.	.|.	.|.	L|X	173|445;518;517;480;523;462	.|.	.|ENSP00000330516:R480X	P|R	+|+	2|1	0|2	EWSR1|EWSR1	28024857|28024857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	2.841000|2.841000	0.48223|0.48223	2.598000|2.598000	0.87819|0.87819	0.462000|0.462000	0.41574|0.41574	CCG|CGA		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		51	88	0	0	0	1	0	51	88					T	29694857	C	T	29694857	4	4	286	1	0	0	0	0	0	1	0	0	5296	644	23	1	1723	1	EWSR1	22	29694857	Nonsense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		29694857	21609709	17	30227											
OGT	8473	broad.mit.edu	37	chrX	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtagcttggagtaaTcttggctgtgttttcaatgc	11	6	2	0	rs200109331		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					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)	p.N196K(1)|p.N186K(1)		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)					CTTGGAGTAATCTTGGCTGTG	0.378																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.N196K(1)|p.N186K(1)	prostate(2)	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						c.(586-588)aaT>aaG		O-linked N-acetylglucosamine (GlcNAc) transferase							145	134	138					X																	70767813		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70767813T>G	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.588T>G	X.37:g.70767813T>G	ENSP00000362824:p.Asn196Lys					OGT_ENST00000373701.3_Missense_Mutation_p.N186K	p.N196K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			5	805	+	Renal(35;0.156)		196					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.588T>G	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.16|18.16	3.562560|3.562560	0.65538|0.65538	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701	.|T;T	.|0.69306	.|-0.39;-0.39	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.98;1.0	.|D;P;D	.|0.97110	.|0.998;0.693;1.0	T|T	0.78094|0.78094	-0.2338|-0.2338	5|10	.|0.56958	.|D	.|0.05	-5.9626|-5.9626	9.2858|9.2858	0.37755|0.37755	0.0:0.0844:0.0:0.9156|0.0:0.0844:0.0:0.9156	.|.	.|70;186;196	.|Q548W1;O15294-3;O15294	.|.;.;OGT1_HUMAN	S|K	156|196;186	.|ENSP00000362824:N196K;ENSP00000362805:N186K	.|ENSP00000362805:N186K	I|N	+|+	2|3	0|2	OGT|OGT	70684538|70684538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.894000|2.894000	0.48640|0.48640	1.878000|1.878000	0.54408|0.54408	0.478000|0.478000	0.44815|0.44815	ATC|AAT		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		73	9	0	0	0	1	0	73	9					G	70767813	T	G	70767813	3	3	286	1	0	0	0	0	1	0	0	0	10847	1432	50	5	606	5	OGT	23	70767813	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		70767813	84502747	18	30228											
ATRX	546	broad.mit.edu	37	chrX	76938001	76938001	+	Frame_Shift_Del	DEL	G	G	-													tatcgacaccatcagtggaaGcacttgcttgctgcttctta							TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:76938001delG	ENST00000373344.5	-	9	2961	c.2747delC	c.(2746-2748)gctfs	p.A916fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.A878fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	916					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						ATCAGTGGAAGCACTTGCTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2746-2748)gtfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						164	153	157					X																	76938001		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938001delG	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.2747delC	X.37:g.76938001delG	ENSP00000362441:p.Ala916fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.A878fs|ATRX_ENST00000480283.1_5'UTR	p.A916fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2961	-			916					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2747delC	CCDS14434.1																																																																																				0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		122	35						122	35	---	---	---	---	-	76938001	G	-	76938001	7	5	286	1	0	1	0	1	0	0	0	0	1208	971	34	0	4839	0	ATRX	23	76938001	Frame_Shift_Del	DEL	G	TCGA-HT-7879-01A-11D-2395-08	6170188	76938001	78332559	19	30229											
TRIM33	51592	broad.mit.edu	37	chr1	114968295	114968295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaacttgcccaactaCaacattaggagtataaccag	9	9	0	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:114968295C>T	ENST00000358465.2	-	9	1554	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	TRIM33_ENST00000450349.2_Missense_Mutation_p.V99I|TRIM33_ENST00000369543.2_Missense_Mutation_p.V491I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	491					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TGCCCAACTACAACATTAGGA	0.368			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	" tripartite motif-containing 33 (PTC7,TIF1G)"			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1471-1473)Gta>Ata		tripartite motif containing 33							155	140	145					1																	114968295		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968295C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1471G>A	1.37:g.114968295C>T	ENSP00000351250:p.Val491Ile					TRIM33_ENST00000369543.2_Missense_Mutation_p.V491I|TRIM33_ENST00000450349.2_Missense_Mutation_p.V99I	p.V491I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		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)	9	1554	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	491					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.1471G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506039	0.44558	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.74842	-0.72;-0.63;-0.88	5.23	5.23	0.72850	.	0.049039	0.85682	D	0.000000	T	0.75236	0.3822	L	0.36672	1.1	0.53005	D	0.999969	P;P;P	0.50156	0.932;0.6;0.65	P;B;B	0.61592	0.891;0.316;0.244	T	0.73534	-0.3952	10	0.38643	T	0.18	-11.6738	19.1786	0.93614	0.0:1.0:0.0:0.0	.	99;491;491	E7EN20;Q9UPN9-2;Q9UPN9	.;.;TRI33_HUMAN	I	491;491;99	ENSP00000351250:V491I;ENSP00000358556:V491I;ENSP00000412077:V99I	ENSP00000351250:V491I	V	-	1	0	TRIM33	114769818	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.156000	0.64905	2.610000	0.88304	0.650000	0.86243	GTA		0.368	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		4	100	0	0	0	1	0	4	100					T	114968295	C	T	114968295	3	4	287	1	0	0	0	0	1	0	0	0	16504	478	17	2	1960	2	TRIM33	1	114968295	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		114968295	134282326	1	30230											
PTPN14	5784	broad.mit.edu	37	chr1	214557534	214557534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcttaagcatgtgggccGtgctgtagttatggctgccc	13	9	1	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:214557534G>A	ENST00000366956.5	-	13	1858	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	555					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1663-1665)aCg>aTg		protein tyrosine phosphatase, non-receptor type 14							67	68	68					1																	214557534		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557534G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1664C>T	1.37:g.214557534G>A	ENSP00000355923:p.Thr555Met					PTPN14_ENST00000543945.1_3'UTR	p.T555M	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1858	-			555					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1664C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742422	0.49151	.	.	ENSG00000152104	ENST00000366956	T	0.69175	-0.38	5.51	4.59	0.56863	.	0.268663	0.42420	D	0.000701	T	0.61776	0.2374	L	0.56769	1.78	0.80722	D	1	P	0.52316	0.952	B	0.39068	0.289	T	0.68205	-0.5470	10	0.62326	D	0.03	.	14.5053	0.67748	0.0711:0.0:0.9289:0.0	.	555	Q15678	PTN14_HUMAN	M	555	ENSP00000355923:T555M	ENSP00000355923:T555M	T	-	2	0	PTPN14	212624157	0.575000	0.26692	0.008000	0.14137	0.766000	0.43426	3.875000	0.56108	1.457000	0.47850	0.650000	0.86243	ACG		0.637	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		10	118	0	0	0	1	0	10	118					A	214557534	G	A	214557534	3	1	287	1	0	0	0	0	1	0	0	0	12783	1145	40	1	1927	1	PTPN14	1	214557534	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08	99589239	214557534	34693087	2	30231											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			13	50	0	0	0	1	0	13	50					T	209113112	C	T	209113112	3	4	287	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		209113112	34086261	3	30232											
TMEM198	130612	broad.mit.edu	37	chr2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggccccgcccactcaccAccctggccaccgccgtgact	9	22	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:220412578A>C	ENST00000344458.2	+	4	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P|MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	173	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(517-519)Acc>Ccc		transmembrane protein 198							10	11	11					2																	220412578		2165	4265	6430	SO:0001583	missense	130612					integral to membrane		g.chr2:220412578A>C	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.517A>C	2.37:g.220412578A>C	ENSP00000343507:p.Thr173Pro					TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P	p.T173P			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1102	+		Renal(207;0.0376)	173			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.517A>C	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.426537	0.62733	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.83	3.83	0.44106	.	0.048787	0.85682	D	0.000000	T	0.52141	0.1716	L	0.51422	1.61	0.31599	N	0.652939	D	0.61697	0.99	P	0.56434	0.798	T	0.61182	-0.7114	9	0.87932	D	0	-16.8248	7.6951	0.28590	0.9011:0.0:0.0989:0.0	.	173	Q66K66	TM198_HUMAN	P	173	.	ENSP00000343507:T173P	T	+	1	0	TMEM198	220120822	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.938000	0.48987	1.735000	0.51646	0.482000	0.46254	ACC		0.697	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		6	15	0	0	0	1	0	6	15					C	220412578	A	C	220412578	3	2	287	1	0	0	0	0	1	0	0	0	16116	159	6	5	523	5	TMEM198	2	220412578	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	11299466	220412578	22786795	4	30233											
PCDHB2	56133	broad.mit.edu	37	chr5	140476767	140476767	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggaagagctttgaattcaCttaagtgttaataaggatct	9	5	2	2	rs461653	byFrequency	TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr5:140476767C>G	ENST00000194155.4	+	1	2541	c.2393C>G	c.(2392-2394)aCt>aGt	p.T798S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	798					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)			TTTGAATTCACTTAAGTGTTA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		17655	0.001		0.0	False		,,,				2504	0.001					ENST00000194155.4																			0				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						c.(2392-2394)aCt>aGt									151	155	154					5																	140476767		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476767C>G	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.2393C>G	5.37:g.140476767C>G	ENSP00000194155:p.Thr798Ser						p.T798S	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2541	+			798					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2393C>G	CCDS4244.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.003	-2.575107	0.00131	.	.	ENSG00000112852	ENST00000194155	T	0.47177	0.85	4.34	-1.02	0.10135	.	.	.	.	.	T	0.11495	0.0280	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	9	0.02654	T	1	.	2.1345	0.03758	0.4333:0.1242:0.3164:0.126	rs461653	798	Q9Y5E7	PCDB2_HUMAN	S	798	ENSP00000194155:T798S	ENSP00000194155:T798S	T	+	2	0	PCDHB2	140456951	0.005000	0.15991	0.320000	0.25306	0.037000	0.13140	-1.127000	0.03251	-0.315000	0.08703	-0.125000	0.14975	ACT		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		4	155	0	0	0	1	0	4	155					G	140476767	C	G	140476767	3	3	287	1	0	0	0	0	1	0	0	0	11542	565	20	4	2395	4	PCDHB2	5	140476767	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		140476767	40438493	5	30234											
POM121	9883	broad.mit.edu	37	chr7	72413479	72413479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcagccaccgggggccGccaagccggcccttgccccc	15	19	0	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr7:72413479G>A	ENST00000434423.2	+	11	2947	c.2947G>A	c.(2947-2949)Gcc>Acc	p.A983T	POM121_ENST00000358357.3_Missense_Mutation_p.A718T|POM121_ENST00000257622.4_Missense_Mutation_p.A718T|POM121_ENST00000395270.1_Missense_Mutation_p.A718T|POM121_ENST00000446813.1_Missense_Mutation_p.A718T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	983	Pore side. {ECO:0000255}.				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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACCGGGGGCCGCCAAGCCGGC	0.652																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2152-2154)Gcc>Acc		POM121 transmembrane nucleoporin							32	45	40					7																	72413479		2202	4298	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413479G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2947G>A	7.37:g.72413479G>A	ENSP00000405562:p.Ala983Thr					POM121_ENST00000257622.4_Missense_Mutation_p.A718T|POM121_ENST00000446813.1_Missense_Mutation_p.A718T|POM121_ENST00000434423.2_Missense_Mutation_p.A983T|POM121_ENST00000358357.3_Missense_Mutation_p.A718T	p.A718T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3193	+		Lung NSC(55;0.163)	983			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2152G>A		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.561425	0.00903	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.4;3.38;3.4;3.64	2.33	-2.65	0.06095	.	0.581381	0.14180	N	0.336064	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	B;B	0.27450	0.179;0.115	B;B	0.17098	0.011;0.017	T	0.45411	-0.9263	10	0.05833	T	0.94	.	6.1669	0.20396	0.6152:0.0:0.3848:0.0	.	718;983	A8MXF9;Q96HA1	.;P121A_HUMAN	T	718;718;718;718;983	ENSP00000393020:A718T;ENSP00000257622:A718T;ENSP00000378687:A718T;ENSP00000351124:A718T;ENSP00000405562:A983T	ENSP00000257622:A718T	A	+	1	0	POM121	72051415	0.007000	0.16637	0.001000	0.08648	0.019000	0.09904	-0.094000	0.11094	-0.694000	0.05113	0.173000	0.16961	GCC		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	250	0	0	0	1	0	5	250					A	72413479	G	A	72413479	3	1	287	1	0	0	0	0	1	0	0	0	12239	1087	38	1	2190	1	POM121	7	72413479	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		72413479	86725184	6	30235											
PKN3	29941	broad.mit.edu	37	chr9	131475882	131475882	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacaatgcctgtcaccaactGtccctcagcctggtaccgca	8	16	2	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr9:131475882G>C	ENST00000291906.4	+	9	1590	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	399					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTCACCAACTGTCCCTCAGCC	0.632																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1195-1197)ctG>ctC		protein kinase N3							95	84	87					9																	131475882		2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131475882G>C	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1197G>C	9.37:g.131475882G>C							p.L399L	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			9	1590	+			399					Q9UM03	Silent	SNP	ENST00000291906.4	37	c.1197G>C	CCDS6908.1																																																																																				0.632	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		6	85	0	0	0	1	0	6	85					C	131475882	G	C	131475882	2	2	287	1	0	0	0	0	0	0	0	1	11981	1364	48	4		4	PKN3	9	131475882	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08		131475882	9737549	7	30236											
SPOCK2	9806	broad.mit.edu	37	chr10	73827431	73827431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggagttctcatgaaggaGctggaaccagtcccgcagcc	12	12	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr10:73827431G>T	ENST00000373109.2	-	7	1093	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	SPOCK2_ENST00000317376.4_Missense_Mutation_p.L217I|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L217I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	217					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCATGAAGGAGCTGGAACCAG	0.607																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(649-651)Ctc>Atc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							44	43	43					10																	73827431		2203	4300	6503	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73827431G>T	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.649C>A	10.37:g.73827431G>T	ENSP00000362201:p.Leu217Ile					SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L217I|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L217I	p.L217I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			7	1093	-			217					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.649C>A	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911797	0.92178	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.53640	0.61;0.61	5.82	5.82	0.92795	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.063428	0.64402	D	0.000004	T	0.66626	0.2808	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57900	-0.7731	10	0.20519	T	0.43	.	19.6956	0.96023	0.0:0.0:1.0:0.0	.	217	Q92563	TICN2_HUMAN	I	214;217;217	ENSP00000321108:L217I;ENSP00000439445:L217I	ENSP00000321108:L217I	L	-	1	0	SPOCK2	73497437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.297000	0.72757	2.756000	0.94617	0.561000	0.74099	CTC		0.607	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			3	38	1	0	6.4e-05	1	7.168e-05	3	38					T	73827431	G	T	73827431	3	4	287	1	0	0	0	0	1	0	0	0	15079	971	34	4	645	4	SPOCK2	10	73827431	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		73827431	61707316	8	30237											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	10	22	0	1	rs138454470	byFrequency	TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687													a|||	16	0.00319489	0.0113	0.0014	5008	,	,		7650	0.0		0.0	False		,,,				2504	0.0					ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(103-105)Cgt>Tgt		keratin associated protein 5-2							28	36	33					11																	1619378		2153	4213	6366	SO:0001583	missense	440021					keratin filament		g.chr11:1619378G>A	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.103C>T	11.37:g.1619378G>A	ENSP00000400041:p.Arg35Cys					KRTAP5-AS1_ENST00000424148.1_RNA	p.R35C	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	146	-		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)	35					A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.103C>T	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.373233	0.42105	.	.	ENSG00000205867	ENST00000412090	T	0.00655	5.95	1.5	1.5	0.22942	.	.	.	.	.	T	0.00384	0.0012	N	0.01352	-0.895	0.30628	N	0.757796	.	.	.	.	.	.	T	0.38628	-0.9652	7	0.44086	T	0.13	.	4.9464	0.13991	0.8126:0.0:0.1874:0.0	.	35	Q701N4	KRA52_HUMAN	C	35	ENSP00000400041:R35C	ENSP00000400041:R35C	R	-	1	0	KRTAP5-2	1575954	0.000000	0.05858	0.659000	0.29680	0.640000	0.38277	-0.254000	0.08781	0.123000	0.18342	0.000000	0.15137	CGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		6	153	0	0	0	1	0	6	153					A	1619378	G	A	1619378	3	1	287	1	0	0	0	0	1	0	0	0	8561	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		1619378	133387138	9	30238											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-													agcagccaccgccacctcaaCagcagcagcagcagcagcag					rs372118289		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.64	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		7	76						7	76	---	---	---	---	-	8200560	CAG	-	8200558	7	5	287	1	0	1	0	1	0	0	0	0	6012	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-HT-7880-01A-11D-2395-08		8200558	125651337	10	30239											
ALX1	8092	broad.mit.edu	37	chr12	85677519	85677519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatccagcagtaagaaAcggaggcaccgaaccacctt	9	11	0	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:85677519A>T	ENST00000316824.3	+	2	551	c.396A>T	c.(394-396)aaA>aaT	p.K132N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	132					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|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)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCAGTAAGAAACGGAGGCACC	0.478																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(394-396)aaA>aaT		ALX homeobox 1							134	129	131					12																	85677519		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677519A>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.396A>T	12.37:g.85677519A>T	ENSP00000315417:p.Lys132Asn						p.K132N	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	551	+			132					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.396A>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001408	0.74818	.	.	ENSG00000180318	ENST00000316824	D	0.95690	-3.78	5.59	2.5	0.30297	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	N	0.24115	0.695	0.80722	D	1	B	0.22211	0.066	B	0.23419	0.046	D	0.84604	0.0674	10	0.72032	D	0.01	.	10.9166	0.47139	0.2182:0.0:0.7818:0.0	.	132	Q15699	ALX1_HUMAN	N	132	ENSP00000315417:K132N	ENSP00000315417:K132N	K	+	3	2	ALX1	84201650	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.418000	0.44662	0.313000	0.23062	-0.140000	0.14226	AAA		0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		4	154	0	0	0	1	0	4	154					T	85677519	A	T	85677519	3	4	287	1	0	0	0	0	1	0	0	0	556	40	2	5	402	5	ALX1	12	85677519	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	77476961	85677519	48174376	11	30240											
MYO1E	4643	broad.mit.edu	37	chr15	59445849	59445849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctctggcgtctgtgacactCggtctgaactggtagactgc	12	11	3	3	rs564470291		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr15:59445849C>A	ENST00000288235.4	-	26	3419	c.3020G>T	c.(3019-3021)cGa>cTa	p.R1007L	AC092757.1_ENST00000408169.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1007					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)		CTGTGACACTCGGTCTGAACT	0.592																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(3019-3021)cGa>cTa		myosin IE							92	90	90					15																	59445849		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59445849C>A	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.3020G>T	15.37:g.59445849C>A	ENSP00000288235:p.Arg1007Leu						p.R1007L	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	26	3419	-			1007					Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.3020G>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170875	0.38315	.	.	ENSG00000157483	ENST00000288235	D	0.87179	-2.22	5.54	5.54	0.83059	.	0.055483	0.64402	D	0.000001	T	0.81269	0.4787	L	0.41961	1.31	0.44359	D	0.997258	B	0.02656	0.0	B	0.06405	0.002	T	0.74562	-0.3624	10	0.26408	T	0.33	.	10.9355	0.47243	0.0:0.8813:0.0:0.1187	.	1007	Q12965	MYO1E_HUMAN	L	1007	ENSP00000288235:R1007L	ENSP00000288235:R1007L	R	-	2	0	MYO1E	57233141	0.310000	0.24527	0.990000	0.47175	0.402000	0.30811	0.843000	0.27640	2.607000	0.88179	0.655000	0.94253	CGA		0.592	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		4	103	1	0	0.150653	1	0.150653	4	103					A	59445849	C	A	59445849	3	1	287	1	0	0	0	0	1	0	0	0	10072	884	31	4	318	4	MYO1E	15	59445849	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		59445849	43085543	12	30241											
FAH	2184	broad.mit.edu	37	chr15	80452128	80452128	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagcttcatgggcctgggtCaggctgcctggaaggaggcg	17	10	2	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr15:80452128C>T	ENST00000407106.1	+	4	378	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	FAH_ENST00000539156.1_Nonsense_Mutation_p.Q5*|FAH_ENST00000561421.1_Nonsense_Mutation_p.Q75*|FAH_ENST00000261755.5_Nonsense_Mutation_p.Q75*			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	75					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						GGGCCTGGGTCAGGCTGCCTG	0.527									Tyrosinemia, type 1																													ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(13-15)Cag>Tag		fumarylacetoacetate hydrolase (fumarylacetoacetase)							178	142	154					15																	80452128		2203	4300	6503	SO:0001587	stop_gained	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80452128C>T	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.223C>T	15.37:g.80452128C>T	ENSP00000385080:p.Gln75*					FAH_ENST00000407106.1_Nonsense_Mutation_p.Q75*|FAH_ENST00000261755.5_Nonsense_Mutation_p.Q75*|FAH_ENST00000561421.1_Nonsense_Mutation_p.Q75*	p.Q5*			P16930	FAAA_HUMAN			2	2251	+			75					B2R9X1|D3DW95|Q53XA7	Nonsense_Mutation	SNP	ENST00000407106.1	37	c.13C>T	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207283	0.97376	.	.	ENSG00000103876	ENST00000407106;ENST00000537726;ENST00000261755;ENST00000539156	.	.	.	4.51	3.5	0.40072	.	0.495465	0.21601	N	0.071947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-11.6407	7.8567	0.29487	0.0:0.8289:0.0:0.1711	.	.	.	.	X	75;75;75;5	.	ENSP00000261755:Q75X	Q	+	1	0	FAH	78239183	0.064000	0.20934	0.902000	0.35471	0.985000	0.73830	1.329000	0.33770	2.358000	0.79984	0.591000	0.81541	CAG		0.527	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			4	93	0	0	0	1	0	4	93					T	80452128	C	T	80452128	4	4	287	1	0	0	0	0	0	1	0	0	5371	827	29	2	233	2	FAH	15	80452128	Nonsense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08	21006279	80452128	22079264	13	30242											
TP53	7157	broad.mit.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	14	12	1	0	rs483352695|rs397516437		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000420246.2_Missense_Mutation_p.M246V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in 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.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	CTCCGGTTCATGCCGCCCATG	0.577		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	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	GRCh37	CM942294	TP53	M		c.(736-738)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							152	113	126					17																	7577545		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577545T>C	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.736A>G	17.37:g.7577545T>C	ENSP00000269305:p.Met246Val	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)				TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V	p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	868	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.736A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	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	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	76	0	0	0	1	0	10	76					C	7577545	T	C	7577545	3	2	287	1	0	0	0	0	1	0	0	0	16378	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		7577545	73617665	14	30243											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													agctcgagttctggttactcTgtttgattctcggcatttac							TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	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.?(4)|p.F1247fs*16(1)	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)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	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	GRCh37	CD000973|CD972354	NF1	D		c.(3736-3741)ctfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562657_29562660delTGTT		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.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	28	4120_4123	+		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)	1246			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3737_3740delTGTT	CCDS42292.1																																																																																				0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	226						20	226	---	---	---	---	-	29562660	TGTT	-	29562657	7	5	287	1	0	1	0	1	0	0	0	0	10356	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7880-01A-11D-2395-08	21985112	29562657	51632553	15	30244											
KAT2A	2648	broad.mit.edu	37	chr17	40269492	40269492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccccacgagccacagCaacacccgccggttggcctt	10	18	0	0	rs374631275		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:40269492C>T	ENST00000225916.5	-	10	1604	c.1551G>A	c.(1549-1551)ttG>ttA	p.L517L		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	517	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				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						CGAGCCACAGCAACACCCGCC	0.647																																						ENST00000225916.5																			0				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						c.(1549-1551)ttG>ttA		K(lysine) acetyltransferase 2A		C		0,4314		0,0,2157	23	23	23		1551	3.8	1	17		23	1,8499		0,1,4249	no	coding-synonymous	KAT2A	NM_021078.2		0,1,6406	TT,TC,CC		0.0118,0.0,0.0078		517/838	40269492	1,12813	2157	4250	6407	SO:0001819	synonymous_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40269492C>T	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.1551G>A	17.37:g.40269492C>T							p.L517L	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			10	1604	-			517			N-acetyltransferase.		Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.1551G>A	CCDS11417.1																																																																																				0.647	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		4	44	0	0	0	1	0	4	44					T	40269492	C	T	40269492	2	4	287	1	0	0	0	0	0	0	0	1	7981	709	25	2		2	KAT2A	17	40269492	Silent	SNP	C	TCGA-HT-7880-01A-11D-2395-08	10706835	40269492	40925718	16	30245											
ATRX	546	broad.mit.edu	37	chrX	76937900	76937900	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacatgttttggtttTgagatgcttgctcttttctt	7	5	2	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76937900T>A	ENST00000373344.5	-	9	3062	c.2848A>T	c.(2848-2850)Aaa>Taa	p.K950*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K912*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	950					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						GTTTTGGTTTTGAGATGCTTG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2848-2850)Aaa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						129	140	136					X																	76937900		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937900T>A	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.2848A>T	X.37:g.76937900T>A	ENSP00000362441:p.Lys950*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.K912*|ATRX_ENST00000480283.1_5'UTR	p.K950*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3062	-			950					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2848A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	41	8.779828	0.98950	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	3.4	0.38934	.	0.508000	0.19206	N	0.120059	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2379	6.4475	0.21885	0.0:0.1379:0.1344:0.7278	.	.	.	.	X	950;912;877	.	ENSP00000362441:K950X	K	-	1	0	ATRX	76824556	0.067000	0.21026	0.005000	0.12908	0.720000	0.41350	1.106000	0.31098	0.790000	0.33803	0.417000	0.27973	AAA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	76	0	0	0	1	0	17	76					A	76937900	T	A	76937900	4	1	287	1	0	0	0	0	0	1	0	0	1208	1821	63	5	4738	5	ATRX	23	76937900	Nonsense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		76937900	78332660	17	30246											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	8	9	3	2			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76938788G>T	ENST00000373344.5	-	9	2174	c.1960C>A	c.(1960-1962)Cga>Aga	p.R654R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.R616R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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						GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1960-1962)Cga>Aga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						130	138	135					X																	76938788		2203	4291	6494	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938788G>T	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.1960C>A	X.37:g.76938788G>T						ATRX_ENST00000395603.3_Silent_p.R616R|ATRX_ENST00000480283.1_5'UTR	p.R654R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2174	-			654					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1960C>A	CCDS14434.1																																																																																				0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		19	114	1	0	7.07596e-05	1	7.62026e-05	19	114					T	76938788	G	T	76938788	2	4	287	1	0	0	0	0	0	0	0	1	1208	1066	37	4		4	ATRX	23	76938788	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08	888	76938788	78331772	18	30247											
AFF2	2334	broad.mit.edu	37	chrX	148037448	148037448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacagtgtctcaaaggAcaattgggaaaaaacagccc	11	8	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:148037448A>G	ENST00000370460.2	+	11	2352	c.1873A>G	c.(1873-1875)Aca>Gca	p.T625A	AFF2_ENST00000370457.5_Missense_Mutation_p.T592A|AFF2_ENST00000286437.5_Missense_Mutation_p.T266A|AFF2_ENST00000342251.3_Missense_Mutation_p.T592A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	625					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCAAAGGACAATTGGGAA	0.443																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1873-1875)Aca>Gca		AF4/FMR2 family, member 2							89	95	93					X																	148037448		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037448A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1873A>G	X.37:g.148037448A>G	ENSP00000359489:p.Thr625Ala					AFF2_ENST00000370457.5_Missense_Mutation_p.T592A|AFF2_ENST00000286437.5_Missense_Mutation_p.T266A|AFF2_ENST00000342251.3_Missense_Mutation_p.T592A	p.T625A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2352	+	Acute lymphoblastic leukemia(192;6.56e-05)		625					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1873A>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114255	0.56505	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.5	5.5	0.81552	.	0.176362	0.47852	D	0.000212	T	0.55737	0.1939	M	0.61703	1.905	0.34571	D	0.713482	B;B;B;B;B;B	0.33171	0.4;0.347;0.347;0.347;0.347;0.4	B;B;B;B;B;B	0.30251	0.113;0.069;0.069;0.069;0.069;0.113	T	0.67055	-0.5767	10	0.40728	T	0.16	.	9.2427	0.37506	0.9184:0.0:0.0816:0.0	.	266;590;592;586;615;625	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	A	625;592;592;266	ENSP00000359489:T625A;ENSP00000359486:T592A;ENSP00000345459:T592A;ENSP00000286437:T266A	ENSP00000286437:T266A	T	+	1	0	AFF2	147845148	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.260000	0.72502	1.836000	0.53414	0.451000	0.29950	ACA		0.443	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		16	104	0	0	0	1	0	16	104					G	148037448	A	G	148037448	3	3	287	1	0	0	0	0	1	0	0	0	357	275	10	3	1970	3	AFF2	23	148037448	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	71098660	148037448	7233112	19	30248											
PRAMEF17	391004	broad.mit.edu	37	chr1	13718582	13718582	+	Frame_Shift_Del	DEL	G	G	-													ctctgctagagaaagttgctGctactctcgagatcctcacg							TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:13718582delG	ENST00000376098.4	+	3	1071	c.1045delG	c.(1045-1047)gctfs	p.A349fs		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	349					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)					kidney(1)|lung(2)	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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTGCTGCTACTCTCGA	0.547																																						ENST00000376098.4																			0				kidney(1)|lung(2)	3						c.(1045-1047)ctfs		PRAME family member 17							13	33	28					1																	13718582		707	2215	2922	SO:0001589	frameshift_variant	391004							g.chr1:13718582delG		CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"-"	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.1045delG	1.37:g.13718582delG	ENSP00000365266:p.Ala349fs						p.A349fs	NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1071	+	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)	349					B2RUU4	Frame_Shift_Del	DEL	ENST00000376098.4	37	c.1045delG	CCDS41264.1																																																																																				0.547	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021780.2	NM_001099851		6	7						6	7	---	---	---	---	-	13718582	G	-	13718582	7	5	288	1	0	1	0	1	0	0	0	0	12432	1319	46	0	1055	0	PRAMEF17	1	13718582	Frame_Shift_Del	DEL	G	TCGA-HT-7881-01A-11D-2395-08		13718582	235532039	1	30249											
C1orf114	57821	broad.mit.edu	37	chr1	169394121	169394121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttttcaaagtcatcttcGtattcttcacttttctttga	3	10	6	1	rs199771563		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:169394121G>A	ENST00000367806.3	-	2	197	c.45C>T	c.(43-45)taC>taT	p.Y15Y	CCDC181_ENST00000367805.3_Silent_p.Y15Y|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Silent_p.Y15Y	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	15						nucleus (GO:0005634)											AGTCATCTTCGTATTCTTCAC	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16372	0.001		0.0	False		,,,				2504	0.0					ENST00000545005.1																			0											c.(43-45)taC>taT		coiled-coil domain containing 181							152	144	147					1																	169394121		2202	4297	6499	SO:0001819	synonymous_variant	57821							g.chr1:169394121G>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.45C>T	1.37:g.169394121G>A						CCDC181_ENST00000367805.3_Silent_p.Y15Y|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Silent_p.Y15Y	p.Y15Y							3	552	-								O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.45C>T																																																																																					0.289	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		13	66	0	0	0	1	0	13	66					A	169394121	G	A	169394121	2	1	288	1	0	0	0	0	0	0	0	1	1987	1140	40	1		1	C1orf114	1	169394121	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	155675539	169394121	79856500	2	30250											
HSPD1	3329	broad.mit.edu	37	chr2	198352636	198352636	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaaaatctccagccatAgcatcataaccaacttctga	3	13	4	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198352636A>T	ENST00000388968.3	-	11	1782	c.1515T>A	c.(1513-1515)gcT>gcA	p.A505A	HSPD1_ENST00000345042.2_Silent_p.A505A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	505					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|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-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTCCAGCCATAGCATCATAAC	0.348																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1513-1515)gcT>gcA		heat shock 60kDa protein 1 (chaperonin)							75	74	74					2																	198352636		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198352636A>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"Heat Shock Proteins / Chaperonins"	5261	protein-coding gene	gene with protein product		118190	"heat shock 60kD protein 1 (chaperonin)", "spastic paraplegia 13 (autosomal dominant)"	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1515T>A	2.37:g.198352636A>T						HSPD1_ENST00000345042.2_Silent_p.A505A	p.A505A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		11	1782	-			505					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.1515T>A	CCDS33357.1																																																																																				0.348	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		5	78	0	0	0	1	0	5	78					T	198352636	A	T	198352636	2	4	288	1	0	0	0	0	0	0	0	1	7428	407	15	5		5	HSPD1	2	198352636	Silent	SNP	A	TCGA-HT-7881-01A-11D-2395-08		198352636	44846737	3	30251											
PLCL1	5334	broad.mit.edu	37	chr2	198950679	198950679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtttatagggcaatataCgataccatttgaatgtttgc	9	5	0	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198950679C>T	ENST00000428675.1	+	2	2836	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	813	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	p.T715M(1)		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)	GGGCAATATACGATACCATTT	0.443																																						ENST00000428675.1																			1	Substitution - Missense(1)	p.T715M(1)	prostate(1)	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						c.(2437-2439)aCg>aTg		phospholipase C-like 1	Quinacrine(DB01103)						203	185	191					2																	198950679		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950679C>T	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.2438C>T	2.37:g.198950679C>T	ENSP00000402861:p.Thr813Met					PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M	p.T813M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2836	+			813			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2438C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291111	0.59976	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.14766	2.48;2.48	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.170853	0.41712	D	0.000836	T	0.53126	0.1777	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.66677	-0.5863	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	813;739	Q15111;B4DYZ4	PLCL1_HUMAN;.	M	813;715	ENSP00000402861:T813M;ENSP00000414138:T715M	.	T	+	2	0	PLCL1	198658924	1.000000	0.71417	0.224000	0.23877	0.930000	0.56654	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	ACG		0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		15	124	0	0	0	1	0	15	124					T	198950679	C	T	198950679	3	4	288	1	0	0	0	0	1	0	0	0	12039	536	19	1	2444	1	PLCL1	2	198950679	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	598043	198950679	44248694	4	30252											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	97	0	0	0	1	0	14	97					T	209113112	C	T	209113112	3	4	288	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	10162433	209113112	34086261	5	30253											
ZBTB20	26137	broad.mit.edu	37	chr3	114070191	114070191	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggagcacgcgtagagtgccGagtagatcctgtccacgctg	14	11	0	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:114070191G>C	ENST00000474710.1	-	4	912	c.734C>G	c.(733-735)tCg>tGg	p.S245W	ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(514-516)tCg>tGg		zinc finger and BTB domain containing 20							86	77	80					3																	114070191		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070191G>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.734C>G	3.37:g.114070191G>C	ENSP00000419153:p.Ser245Trp					ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245W	p.S172W	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1336	-			245					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.515C>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647945	0.67358	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11277	2.82;2.82;2.82;2.82;2.79;2.82;2.82	5.52	5.52	0.82312	.	0.062557	0.64402	D	0.000003	T	0.20577	0.0495	N	0.24115	0.695	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.00875	-1.1531	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	245	Q9HC78	ZBT20_HUMAN	W	172;172;172;172;245;172;172	ENSP00000420324:S172W;ENSP00000377375:S172W;ENSP00000418092:S172W;ENSP00000419902:S172W;ENSP00000419153:S245W;ENSP00000349803:S172W;ENSP00000417307:S172W	ENSP00000349803:S172W	S	-	2	0	ZBTB20	115552881	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	9.017000	0.93651	2.878000	0.98634	0.650000	0.86243	TCG		0.672	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		13	104	0	0	0	1	0	13	104					C	114070191	G	C	114070191	3	2	288	1	0	0	0	0	1	0	0	0	17526	1059	37	4	1499	4	ZBTB20	3	114070191	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		114070191	83952239	6	30254											
MAN2B2	23324	broad.mit.edu	37	chr4	6599987	6599987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagagacatgtacgcaacGcacctggcctcggggatgct	14	11	0	2	rs373027055		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr4:6599987G>A	ENST00000285599.3	+	9	1347	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	MAN2B2_ENST00000504248.1_Silent_p.T386T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	437					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTACGCAACGCACCTGGCCT	0.632																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1309-1311)acG>acA		mannosidase, alpha, class 2B, member 2		G		4,4402	8.1+/-20.4	0,4,2199	93	81	85		1311	3	1	4		85	0,8600		0,0,4300	no	coding-synonymous	MAN2B2	NM_015274.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		437/1010	6599987	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6599987G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1311G>A	4.37:g.6599987G>A						MAN2B2_ENST00000504248.1_Silent_p.T386T	p.T437T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			9	1347	+			437					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.1311G>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	3.333	-0.136334	0.06711	9.08E-4	0.0	ENSG00000013288	ENST00000505907	.	.	.	4.86	2.95	0.34219	.	.	.	.	.	T	0.44808	0.1311	.	.	.	0.44985	D	0.998	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	-16.8918	2.5046	0.04642	0.1978:0.1547:0.5072:0.1404	.	.	.	.	H	436	.	.	R	+	2	0	MAN2B2	6650888	0.779000	0.28652	0.969000	0.41365	0.334000	0.28698	0.094000	0.15107	0.987000	0.38709	0.655000	0.94253	CGC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		6	95	0	0	0	1	0	6	95					A	6599987	G	A	6599987	2	1	288	1	0	0	0	0	0	0	0	1	9217	1074	38	1		1	MAN2B2	4	6599987	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		6599987	184554289	7	30255											
CDH12	1010	broad.mit.edu	37	chr5	21975457	21975457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcctgagagggtgtatTtcacagtgccctctcccttg	9	13	3	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr5:21975457T>C	ENST00000382254.1	-	6	1355	c.269A>G	c.(268-270)aAa>aGa	p.K90R	CDH12_ENST00000522262.1_Missense_Mutation_p.K90R|CDH12_ENST00000504376.2_Missense_Mutation_p.K90R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	90	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGGGTGTATTTCACAGTGCC	0.463										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(268-270)aAa>aGa		cadherin 12, type 2 (N-cadherin 2)							67	68	67					5																	21975457		2046	3890	5936	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975457T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.269A>G	5.37:g.21975457T>C	ENSP00000371689:p.Lys90Arg	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.K90R|CDH12_ENST00000522262.1_Missense_Mutation_p.K90R	p.K90R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1355	-			90			Cadherin 1.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.269A>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754923	0.49362	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.50277	0.75;0.75;0.75	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	N	0.17800	0.525	0.46222	D	0.998933	B;B	0.30033	0.026;0.266	B;B	0.36418	0.044;0.224	T	0.34378	-0.9831	10	0.56958	D	0.05	.	11.6254	0.51142	0.0:0.0:0.1486:0.8514	.	90;90	B7Z2U6;P55289	.;CAD12_HUMAN	R	90	ENSP00000423577:K90R;ENSP00000371689:K90R;ENSP00000428786:K90R	ENSP00000371689:K90R	K	-	2	0	CDH12	22011214	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.824000	0.69279	1.954000	0.56735	0.397000	0.26171	AAA		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	148	0	0	0	1	0	14	148					C	21975457	T	C	21975457	3	2	288	1	0	0	0	0	1	0	0	0	3098	1841	64	3	2155	3	CDH12	5	21975457	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		21975457	158939803	8	30256											
TBP	6908	broad.mit.edu	37	chr6	170871094	170871094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacaggcagt	13	13	0	0			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	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)			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)		agcagcagcagcagcagcagc	0.622																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(268-270)caG>caA		TATA box binding protein							22	28	26					6																	170871094		1899	3721	5620	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871094G>A	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.270G>A	6.37:g.170871094G>A						TBP_ENST00000540980.1_Silent_p.Q70Q|TBP_ENST00000230354.6_Silent_p.Q90Q	p.Q90Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	549	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	90			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.270G>A	CCDS5315.1																																																																																				0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	58	0	0	0	1	0	4	58					A	170871094	G	A	170871094	2	1	288	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871094	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		170871094	243973	9	30257											
AHR	196	broad.mit.edu	37	chr7	17379139	17379139	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaaaaatttttcagaAatgatttttctggtgaggtt	9	2	2	5			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:17379139A>T	ENST00000242057.4	+	10	2333	c.1690A>T	c.(1690-1692)Aat>Tat	p.N564Y	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	564					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATTTTTCAGAAATGATTTTTC	0.353																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1690-1692)Aat>Tat		aryl hydrocarbon receptor							56	64	61					7																	17379139		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379139A>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1690A>T	7.37:g.17379139A>T	ENSP00000242057:p.Asn564Tyr					AHR_ENST00000492120.1_3'UTR	p.N564Y	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2333	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		564					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1690A>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308494	0.40895	.	.	ENSG00000106546	ENST00000242057	T	0.24538	1.85	6.02	-2.33	0.06724	.	0.550751	0.19833	N	0.105055	T	0.18045	0.0433	L	0.48362	1.52	0.09310	N	1	B	0.34103	0.437	B	0.35859	0.212	T	0.13415	-1.0510	10	0.72032	D	0.01	.	4.5288	0.11995	0.5462:0.0:0.2422:0.2116	.	564	P35869	AHR_HUMAN	Y	564	ENSP00000242057:N564Y	ENSP00000242057:N564Y	N	+	1	0	AHR	17345664	0.009000	0.17119	0.349000	0.25694	0.923000	0.55619	0.341000	0.19909	-0.375000	0.07955	0.528000	0.53228	AAT		0.353	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		33	112	0	0	0	1	0	33	112					T	17379139	A	T	17379139	3	4	288	1	0	0	0	0	1	0	0	0	416	14	1	5	1728	5	AHR	7	17379139	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		17379139	141759524	10	30258											
ZNF425	155054	broad.mit.edu	37	chr7	148801044	148801044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttttgccgcacatcacaCaagagaatggcttttggcca	8	11	1	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:148801044C>T	ENST00000378061.2	-	4	2051	c.1919G>A	c.(1918-1920)tGt>tAt	p.C640Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	640					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACATCACACAAGAGAATGG	0.537																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1918-1920)tGt>tAt		zinc finger protein 425							151	141	145					7																	148801044		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801044C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1919G>A	7.37:g.148801044C>T	ENSP00000367300:p.Cys640Tyr						p.C640Y	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2051	-	Melanoma(164;0.15)		640					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1919G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333071	0.60853	.	.	ENSG00000204947	ENST00000378061	D	0.85088	-1.94	3.16	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93697	0.7986	H	0.94582	3.555	0.40544	D	0.981051	D	0.89917	1.0	D	0.97110	1.0	D	0.94998	0.8140	9	0.87932	D	0	.	12.1153	0.53861	0.0:1.0:0.0:0.0	.	640	Q6IV72	ZN425_HUMAN	Y	640	ENSP00000367300:C640Y	ENSP00000367300:C640Y	C	-	2	0	ZNF425	148431977	1.000000	0.71417	0.012000	0.15200	0.044000	0.14063	6.358000	0.73055	1.766000	0.52107	0.655000	0.94253	TGT		0.537	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		17	185	0	0	0	1	0	17	185					T	148801044	C	T	148801044	3	4	288	1	0	0	0	0	1	0	0	0	17896	478	17	2	343	2	ZNF425	7	148801044	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	131421905	148801044	10337619	11	30259											
FAM86B2	653333	broad.mit.edu	37	chr8	12287928	12287928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgagcacctcgtacagTttgtccaaaggctccgtgtg	11	13	0	0	rs369679736	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr8:12287928T>C	ENST00000262365.4	-	4	272	c.273A>G	c.(271-273)aaA>aaG	p.K91K	FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	91										endometrium(1)|kidney(2)	3						CCTCGTACAGTTTGTCCAAAG	0.547													t|||	12	0.00239617	0.0076	0.0	5008	,	,		30016	0.0		0.002	False		,,,				2504	0.0					ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(271-273)aaA>aaG		family with sequence similarity 86, member B2							54	49	51					8																	12287928		691	1589	2280	SO:0001819	synonymous_variant	653333							g.chr8:12287928T>C		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.273A>G	8.37:g.12287928T>C						FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000393715.3_Intron|FAM86B2_ENST00000309608.5_Intron	p.K91K	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN			4	272	-			91						Silent	SNP	ENST00000262365.4	37	c.273A>G	CCDS59092.1																																																																																				0.547	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		4	52	0	0	0	1	0	4	52					C	12287928	T	C	12287928	2	2	288	1	0	0	0	0	0	0	0	1	5645	1722	60	3		3	FAM86B2	8	12287928	Silent	SNP	T	TCGA-HT-7881-01A-11D-2395-08		12287928	134076094	12	30260											
C10orf82	143379	broad.mit.edu	37	chr10	118424279	118424279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccagactcactcttcatAtggtttcagatgtgccttct	7	11	5	2	rs201735695		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr10:118424279A>G	ENST00000369210.3	-	4	508	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	152										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CACTCTTCATATGGTTTCAGA	0.527													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19224	0.0		0.0	False		,,,				2504	0.0					ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(454-456)Tat>Cat		chromosome 10 open reading frame 82		A	HIS/TYR	2,4404	4.2+/-10.8	0,2,2201	164	131	143		454	6.1	0.8	10		143	0,8600		0,0,4300	no	missense	C10orf82	NM_144661.2	83	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	152/155	118424279	2,13004	2203	4300	6503	SO:0001583	missense	143379							g.chr10:118424279A>G	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.454T>C	10.37:g.118424279A>G	ENSP00000358212:p.Tyr152His					C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H	p.Y152H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	508	-			152					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.454T>C	CCDS7596.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	19.91	3.915110	0.73098	4.54E-4	0.0	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.46063	0.88	6.08	6.08	0.98989	.	0.102926	0.44097	D	0.000481	T	0.62756	0.2454	M	0.70595	2.14	0.30790	N	0.741067	D	0.89917	1.0	D	0.74674	0.984	T	0.68918	-0.5282	10	0.87932	D	0	-16.2097	13.0356	0.58870	1.0:0.0:0.0:0.0	.	152	Q8WW14	CJ082_HUMAN	H	152	ENSP00000358212:Y152H	ENSP00000358212:Y152H	Y	-	1	0	C10orf82	118414269	0.335000	0.24748	0.761000	0.31378	0.876000	0.50452	4.190000	0.58365	2.333000	0.79357	0.533000	0.62120	TAT		0.527	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		7	143	0	0	0	1	0	7	143					G	118424279	A	G	118424279	3	3	288	1	0	0	0	0	1	0	0	0	1620	449	16	3	18	3	C10orf82	10	118424279	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		118424279	17110468	13	30261											
NUP98	4928	broad.mit.edu	37	chr11	3716782	3716782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcatggtgagcagctccCggactgactggctacccaca	11	14	0	2	rs144659895	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr11:3716782C>T	ENST00000324932.7	-	26	4484	c.4064G>A	c.(4063-4065)cGg>cAg	p.R1355Q	NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q|NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1372					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAGCAGCTCCCGGACTGACTG	0.473			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C|||	2	0.000399361	0.0	0.0	5008	,	,		16995	0.0		0.002	False		,,,				2504	0.0					ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4063-4065)cGg>cAg		nucleoporin 98kDa		C	GLN/ARG,GLN/ARG	0,4402		0,0,2201	118	116	117		4064,4064	4.3	1	11	dbSNP_134	117	8,8588	6.4+/-24.3	0,8,4290	yes	missense,missense	NUP98	NM_016320.4,NM_139132.3	43,43	0,8,6491	TT,TC,CC		0.0931,0.0,0.0615	probably-damaging,probably-damaging	1355/1801,1355/1727	3716782	8,12990	2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3716782C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4064G>A	11.37:g.3716782C>T	ENSP00000316032:p.Arg1355Gln					NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q	p.R1355Q	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	26	4484	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1372					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4064G>A	CCDS7746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.5	4.304812	0.81247	0.0	9.31E-4	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.25	4.33	0.51752	.	0.059710	0.64402	N	0.000002	T	0.52041	0.1710	M	0.74881	2.28	0.44018	D	0.996739	P;B;P	0.42039	0.769;0.316;0.641	B;B;B	0.30029	0.08;0.04;0.11	T	0.59204	-0.7498	9	0.48119	T	0.1	-9.6206	13.1234	0.59340	0.0:0.9225:0.0:0.0775	.	1355;1355;1269	P52948-2;P52948-5;P52948-6	.;.;.	Q	1355	.	ENSP00000316032:R1355Q	R	-	2	0	NUP98	3673358	0.997000	0.39634	1.000000	0.80357	0.880000	0.50808	4.468000	0.60162	1.350000	0.45770	0.558000	0.71614	CGG		0.473	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	145	0	0	0	1	0	9	145					T	3716782	C	T	3716782	3	4	288	1	0	0	0	0	1	0	0	0	10773	652	23	1	1370	1	NUP98	11	3716782	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		3716782	131289734	14	30262											
ADCY4	196883	broad.mit.edu	37	chr14	24788316	24788316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcacccactcgcaggcGgaagttgttgaatgaatgct	10	11	2	2	rs61741640	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:24788316G>A	ENST00000310677.4	-	24	3057	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C|ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	982					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)		ACTCGCAGGCGGAAGTTGTTG	0.567																																						ENST00000310677.4																			0				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						c.(2944-2946)Cgc>Tgc		adenylate cyclase 4		G	CYS/ARG,CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	131	127	128		2944,2944,2944	5	1	14	dbSNP_129	128	8,8592	5.7+/-21.5	0,8,4292	yes	missense,missense,missense	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	180,180,180	0,10,6493	AA,AG,GG		0.093,0.0454,0.0769	probably-damaging,probably-damaging,probably-damaging	982/1078,982/1078,982/1078	24788316	10,12996	2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788316G>A	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.2944C>T	14.37:g.24788316G>A	ENSP00000312126:p.Arg982Cys					ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C	p.R982C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	24	3057	-			982					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2944C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353216	0.61293	4.54E-4	9.3E-4	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.82081	-1.57;-1.57;-1.57	5.04	5.04	0.67666	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.138044	0.33875	N	0.004469	D	0.90205	0.6938	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.90733	0.4644	10	0.66056	D	0.02	.	10.8862	0.46968	0.0:0.0:0.8126:0.1874	.	982	Q8NFM4	ADCY4_HUMAN	C	982	ENSP00000312126:R982C;ENSP00000452250:R982C;ENSP00000393177:R982C	ENSP00000312126:R982C	R	-	1	0	ADCY4	23858156	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.852000	0.55934	2.594000	0.87642	0.655000	0.94253	CGC		0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			7	124	0	0	0	1	0	7	124					A	24788316	G	A	24788316	3	1	288	1	0	0	0	0	1	0	0	0	296	1116	39	1	301	1	ADCY4	14	24788316	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		24788316	82561224	15	30263											
ENTPD5	957	broad.mit.edu	37	chr14	74442654	74442654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctatgtgtatagagcTtataagtgctgttaaacatc	7	8	1	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:74442654T>C	ENST00000334696.6	-	10	1026	c.707A>G	c.(706-708)aAg>aGg	p.K236R	ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	236					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGTATAGAGCTTATAAGTGCT	0.378																																						ENST00000334696.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(706-708)aAg>aGg		ectonucleoside triphosphate diphosphohydrolase 5							97	94	95					14																	74442654		2203	4300	6503	SO:0001583	missense	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74442654T>C	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.707A>G	14.37:g.74442654T>C	ENSP00000335246:p.Lys236Arg					ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R	p.K236R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	10	1026	-			236					A1L4C5|Q96RX0	Missense_Mutation	SNP	ENST00000334696.6	37	c.707A>G	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750869	0.49257	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.12569	2.67;2.67	5.53	5.53	0.82687	.	0.226087	0.45867	D	0.000332	T	0.07593	0.0191	N	0.16066	0.365	0.80722	D	1	B;B	0.22800	0.075;0.061	B;B	0.19666	0.026;0.015	T	0.32771	-0.9894	10	0.12430	T	0.62	-15.9412	10.1855	0.42995	0.0:0.0734:0.0:0.9266	.	236;236	O75356;G3V4I0	ENTP5_HUMAN;.	R	236	ENSP00000451810:K236R;ENSP00000335246:K236R	ENSP00000335246:K236R	K	-	2	0	ENTPD5	73512407	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.300000	0.65721	2.324000	0.78689	0.533000	0.62120	AAG		0.378	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249		9	120	0	0	0	1	0	9	120					C	74442654	T	C	74442654	3	2	288	1	0	0	0	0	1	0	0	0	5142	1609	56	3	607	3	ENTPD5	14	74442654	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08	49654338	74442654	32906886	16	30264											
C14orf4	64207	broad.mit.edu	37	chr14	77492681	77492681	+	Frame_Shift_Del	DEL	G	G	-													gcgccgggcacgccctccttGaagaagcgcacggcttcggg							TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:77492681delG	ENST00000238647.3	-	1	2353	c.1455delC	c.(1453-1455)ttcfs	p.F485fs		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	485					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						CGCCCTCCTTGAAGAAGCGCA	0.662																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(1453-1455)ttfs		interferon regulatory factor 2 binding protein-like							9	9	9					14																	77492681		2193	4273	6466	SO:0001589	frameshift_variant	64207					nucleus		g.chr14:77492681delG	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.1455delC	14.37:g.77492681delG	ENSP00000238647:p.Phe485fs						p.F485fs	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	2353	-			485					Q8NDQ2|Q96JG2|Q9H3I7	Frame_Shift_Del	DEL	ENST00000238647.3	37	c.1455delC	CCDS9854.1																																																																																				0.662	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		5	9						5	9	---	---	---	---	-	77492681	G	-	77492681	7	5	288	1	0	1	0	1	0	0	0	0	1773	1281	45	0	939	0	C14orf4	14	77492681	Frame_Shift_Del	DEL	G	TCGA-HT-7881-01A-11D-2395-08	3050027	77492681	29856859	17	30265											
PLD4	122618	broad.mit.edu	37	chr14	105399118	105399118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcacctccaactggtcGgaggattacttcagcagcac	11	13	1	0			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:105399118G>A	ENST00000392593.4	+	11	1506	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	PLD4_ENST00000540372.1_Silent_p.S453S|PLD4_ENST00000553861.1_Silent_p.S15S	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	446	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CCAACTGGTCGGAGGATTACT	0.736																																						ENST00000540372.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(1357-1359)tcG>tcA		phospholipase D family, member 4	Choline(DB00122)						9	12	11					14																	105399118		1934	4120	6054	SO:0001819	synonymous_variant	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105399118G>A		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1338G>A	14.37:g.105399118G>A						PLD4_ENST00000553861.1_Silent_p.S15S|PLD4_ENST00000392593.4_Silent_p.S446S	p.S453S			Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		11	1551	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	446					Q6UWD2	Silent	SNP	ENST00000392593.4	37	c.1359G>A	CCDS9995.2																																																																																				0.736	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		2	7	0	0	0	1	0	2	7					A	105399118	G	A	105399118	2	1	288	1	0	0	0	0	0	0	0	1	12048	1103	39	1		1	PLD4	14	105399118	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	27906437	105399118	1950422	18	30266											
PKD1	5310	broad.mit.edu	37	chr16	2139950	2139950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacgtcctctgtggcctgGttgagtcggtcaaactgggt	14	9	2	2	rs148433208	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:2139950G>A	ENST00000262304.4	-	46	12898	c.12690C>T	c.(12688-12690)aaC>aaT	p.N4230N	PKD1_ENST00000423118.1_Silent_p.N4229N|RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4230					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						CTGTGGCCTGGTTGAGTCGGT	0.687													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14851	0.0		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				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						c.(12688-12690)aaC>aaT		polycystic kidney disease 1 (autosomal dominant)		G	,	10,4376	15.5+/-35.6	0,10,2183	35	33	33		12687,12690	2.8	1	16	dbSNP_134	33	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,10,6479	AA,AG,GG		0.0,0.228,0.0771	,	4229/4303,4230/4304	2139950	10,12968	2193	4296	6489	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2139950G>A	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.12690C>T	16.37:g.2139950G>A						PKD1_ENST00000423118.1_Silent_p.N4229N	p.N4230N	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			46	12898	-			4230					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.12690C>T	CCDS32369.1																																																																																				0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	22	0	0	0	1	0	4	22					A	2139950	G	A	2139950	2	1	288	1	0	0	0	0	0	0	0	1	11963	1252	44	2		2	PKD1	16	2139950	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		2139950	88214803	19	30267											
P2RX1	5023	broad.mit.edu	37	chr17	3801122	3801122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagcatcaggatgtcctcaTgttctcctgcaggcccaggg	12	13	3	0	rs34617528	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:3801122T>C	ENST00000225538.3	-	12	1460	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	396			M -> V (in dbSNP:rs34617528).		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)		GATGTCCTCATGTTCTCCTGC	0.647													T|||	38	0.00758786	0.0287	0.0	5008	,	,		7004	0.0		0.0	False		,,,				2504	0.0					ENST00000225538.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13						c.(1186-1188)Atg>Gtg		purinergic receptor P2X, ligand-gated ion channel, 1		T	VAL/MET	96,4310	78.8+/-117.2	3,90,2110	85	75	78		1186	0.9	1	17	dbSNP_126	78	2,8598	1.2+/-3.3	0,2,4298	yes	missense	P2RX1	NM_002558.2	21	3,92,6408	CC,CT,TT		0.0233,2.1788,0.7535	benign	396/400	3801122	98,12908	2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3801122T>C	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.1186A>G	17.37:g.3801122T>C	ENSP00000225538:p.Met396Val						p.M396V	NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	12	1460	-			396		M -> V (in dbSNP:rs34617528).			Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.1186A>G	CCDS11040.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	T	7.222	0.597515	0.13875	0.021788	2.33E-4	ENSG00000108405	ENST00000225538	T	0.03951	3.75	4.74	0.921	0.19403	.	0.153918	0.42420	D	0.000701	T	0.01661	0.0053	L	0.36672	1.1	0.29771	N	0.834759	B	0.06786	0.001	B	0.06405	0.002	T	0.25745	-1.0123	10	0.37606	T	0.19	-24.6451	5.1163	0.14836	0.0:0.0967:0.3566:0.5467	rs34617528	396	P51575	P2RX1_HUMAN	V	396	ENSP00000225538:M396V	ENSP00000225538:M396V	M	-	1	0	P2RX1	3747871	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	0.566000	0.23593	0.350000	0.24002	-0.707000	0.03653	ATG		0.647	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		4	29	0	0	0	1	0	4	29					C	3801122	T	C	3801122	3	2	288	1	0	0	0	0	1	0	0	0	11339	1464	51	3	17	3	P2RX1	17	3801122	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		3801122	77394088	20	30268											
ABHD15	116236	broad.mit.edu	37	chr17	27893250	27893250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgcactcgcccaggtaGgacaggagcagcgccgagcc	15	15	0	0			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:27893250G>A	ENST00000307201.4	-	1	905	c.735C>T	c.(733-735)tcC>tcT	p.S245S	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	245						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						CGCCCAGGTAGGACAGGAGCA	0.711																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(733-735)tcC>tcT		abhydrolase domain containing 15							13	16	15					17																	27893250		2192	4283	6475	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27893250G>A	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.735C>T	17.37:g.27893250G>A						RP11-68I3.2_ENST00000581474.1_RNA	p.S245S	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			1	905	-			245					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.735C>T	CCDS32602.1																																																																																				0.711	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		3	31	0	0	0	1	0	3	31					A	27893250	G	A	27893250	2	1	288	1	0	0	0	0	0	0	0	1	81	987	35	2		2	ABHD15	17	27893250	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	24092128	27893250	53301960	21	30269											
ARHGAP33	115703	broad.mit.edu	37	chr19	36268762	36268762	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccttcccgcggctggcTgactgcgcccatttccacta	10	18	0	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:36268762T>G	ENST00000007510.4	+	3	285	c.141T>G	c.(139-141)gcT>gcG	p.A47A	ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.A47A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	47					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGCGGCTGGCTGACTGCGCCC	0.592																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(139-141)gcT>gcG		Rho GTPase activating protein 33							86	90	88					19																	36268762		2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36268762T>G	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.141T>G	19.37:g.36268762T>G						ARHGAP33_ENST00000314737.5_Silent_p.A47A|ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR	p.A47A			O14559	RHG33_HUMAN			3	285	+			47					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.141T>G																																																																																					0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		5	92	0	0	0	1	0	5	92					G	36268762	T	G	36268762	2	3	288	1	0	0	0	0	0	0	0	1	882	1567	55	5		5	ARHGAP33	19	36268762	Silent	SNP	T	TCGA-HT-7881-01A-11D-2395-08		36268762	22860221	22	30270											
LTBP4	8425	broad.mit.edu	37	chr19	41123027	41123027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacgaatgccggaaccGgtccttctgcggtgcccacg	14	13	1	0	rs35089561	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:41123027G>A	ENST00000308370.7	+	24	3167	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1056	Cys-rich.|EGF-like 12; 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)			TGCCGGAACCGGTCCTTCTGC	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17907	0.0		0.0	False		,,,				2504	0.0					ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3166-3168)cGg>cAg		latent transforming growth factor beta binding protein 4							65	71	69					19																	41123027		2082	4223	6305	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41123027G>A	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.3167G>A	19.37:g.41123027G>A	ENSP00000311905:p.Arg1056Gln					LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR	p.R1056Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		24	3167	+			1056			Cys-rich.|EGF-like 12; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3167G>A		.	.	.	.	.	.	.	.	.	.	G	16.94	3.261750	0.59431	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D	0.95482	-2.93;-3.72;-2.93;-3.72	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36200	N	0.002733	D	0.90916	0.7145	N	0.02802	-0.49	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.917;0.917	D	0.86168	0.1598	10	0.13470	T	0.59	.	6.1177	0.20136	0.1021:0.193:0.7049:0.0	rs35089561	989;1056;1019	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	1019;1056;989;110	ENSP00000204005:R1019Q;ENSP00000311905:R1056Q;ENSP00000380031:R989Q;ENSP00000243562:R110Q	ENSP00000204005:R1019Q	R	+	2	0	LTBP4	45814867	0.655000	0.27376	1.000000	0.80357	0.992000	0.81027	0.952000	0.29149	2.330000	0.79161	0.563000	0.77884	CGG		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	30	0	0	0	1	0	3	30					A	41123027	G	A	41123027	3	1	288	1	0	0	0	0	1	0	0	0	9076	1116	39	1	3554	1	LTBP4	19	41123027	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08	4854265	41123027	18005956	23	30271											
CD93	22918	broad.mit.edu	37	chr20	23065825	23065825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgactcgagtccagCtggtacccttgggggcagcg	14	13	0	1	rs199653820	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr20:23065825C>T	ENST00000246006.4	-	1	1152	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	335	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCGAGTCCAGCTGGTACCCTT	0.637													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17579	0.0		0.0	False		,,,				2504	0.0					ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1003-1005)caG>caA		CD93 molecule		C		2,4402	4.2+/-10.8	0,2,2200	30	33	32		1005	1.7	1	20		32	0,8600		0,0,4300	no	coding-synonymous	CD93	NM_012072.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		335/653	23065825	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065825C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1005G>A	20.37:g.23065825C>T							p.Q335Q	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1152	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		335			EGF-like 2.		O00274	Silent	SNP	ENST00000246006.4	37	c.1005G>A	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		4	63	0	0	0	1	0	4	63					T	23065825	C	T	23065825	2	4	288	1	0	0	0	0	0	0	0	1	3047	796	28	2		2	CD93	20	23065825	Silent	SNP	C	TCGA-HT-7881-01A-11D-2395-08		23065825	39959695	24	30272											
CLDN14	23562	broad.mit.edu	37	chr21	37833827	37833827	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagatgcctgtgctgtgcCacacacactccatccagagc	10	14	0	2	rs371100799		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr21:37833827C>T	ENST00000399137.1	-	3	1033	c.167G>A	c.(166-168)tGg>tAg	p.W56*	AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|AP000695.4_ENST00000454980.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	56					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|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(5)|skin(1)	7						TGTGCTGTGCCACACACACTC	0.637																																						ENST00000399137.1																			0				endometrium(1)|lung(5)|skin(1)	7						c.(166-168)tGg>tAg		claudin 14		C	stop/TRP,stop/TRP,stop/TRP,stop/TRP,stop/TRP	1,4405		0,1,2202	58	39	45		167,167,167,167,167	5.5	1	21		45	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	56/240,56/240,56/240,56/240,56/240	37833827	1,13005	2203	4300	6503	SO:0001587	stop_gained	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833827C>T	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.167G>A	21.37:g.37833827C>T	ENSP00000382090:p.Trp56*					AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56*	p.W56*	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN			3	1033	-			56						Nonsense_Mutation	SNP	ENST00000399137.1	37	c.167G>A	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592285	0.86953	2.27E-4	0.0	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.4085	0.94658	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000339292:W56X	W	-	2	0	CLDN14	36755697	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	2.573000	0.46007	2.576000	0.86940	0.561000	0.74099	TGG		0.637	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492		5	41	0	0	0	1	0	5	41					T	37833827	C	T	37833827	4	4	288	1	0	0	0	0	0	1	0	0	3475	595	21	2	556	2	CLDN14	21	37833827	Nonsense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		37833827	10296068	25	30273											
SBF1	6305	broad.mit.edu	37	chr22	50898008	50898008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgccagcagaccacGgggaagcggttctggcggta	16	13	1	1	rs374190021		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr22:50898008G>A	ENST00000390679.3	-	27	3763	c.3579C>T	c.(3577-3579)ccC>ccT	p.P1193P	SBF1_ENST00000348911.6_Silent_p.P1194P|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Silent_p.P1193P			O95248	MTMR5_HUMAN	SET binding factor 1	1193	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGACCACGGGGAAGCGGT	0.677																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3577-3579)ccC>ccT		SET binding factor 1		G		5,4221		0,5,2108	19	22	21		3579	-9.4	0.9	22		21	3,8431		0,3,4214	no	coding-synonymous	SBF1	NM_002972.2		0,8,6322	AA,AG,GG		0.0356,0.1183,0.0632		1193/1894	50898008	8,12652	2113	4217	6330	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898008G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3579C>T	22.37:g.50898008G>A						SBF1_ENST00000390679.3_Silent_p.P1193P|SBF1_ENST00000348911.6_Silent_p.P1194P	p.P1193P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	27	3762	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1193			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3579C>T																																																																																					0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	48	0	0	0	1	0	4	48					A	50898008	G	A	50898008	2	1	288	1	0	0	0	0	0	0	0	1	13858	1103	39	1		1	SBF1	22	50898008	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		50898008	406558	26	30274											
TAS1R2	80834	broad.mit.edu	37	chr1	19181133	19181133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggtacagggtcaggtcGggcgagaacacgaccacgac	15	10	1	1	rs201166508		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:19181133G>A	ENST00000375371.3	-	3	852	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	277					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)	GGGTCAGGTCGGGCGAGAACA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18803	0.0		0.001	False		,,,				2504	0.0					ENST00000375371.3																			0				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						c.(829-831)ccC>ccT		taste receptor, type 1, member 2	Aspartame(DB00168)	G		0,4406		0,0,2203	65	58	60		831	-10	0	1		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		277/840	19181133	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181133G>A		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.831C>T	1.37:g.19181133G>A						RP13-279N23.2_ENST00000494072.3_3'UTR	p.P277P	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		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)	3	852	-		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)	277					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.831C>T	CCDS187.1																																																																																				0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			6	45	0	0	0	1	0	6	45					A	19181133	G	A	19181133	2	1	289	1	0	0	0	0	0	0	0	1	15560	1103	39	1		1	TAS1R2	1	19181133	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		19181133	230069488	1	30275											
GLIS1	148979	broad.mit.edu	37	chr1	53995560	53995560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtacggcttctcgccCgtgtggctcctcaggtggat	13	13	2	0	rs376177881		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:53995560C>T	ENST00000312233.2	-	4	1427	c.861G>A	c.(859-861)acG>acA	p.T287T		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTCTCGCCCGTGTGGCTCC	0.637																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(859-861)acG>acA		GLIS family zinc finger 1		C		1,4405	2.1+/-5.4	0,1,2202	63	66	65		861	-3.4	1	1		65	0,8600		0,0,4300	no	coding-synonymous	GLIS1	NM_147193.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		287/621	53995560	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53995560C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.861G>A	1.37:g.53995560C>T							p.T287T	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			4	1427	-			287						Silent	SNP	ENST00000312233.2	37	c.861G>A	CCDS582.1																																																																																				0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		9	65	0	0	0	1	0	9	65					T	53995560	C	T	53995560	2	4	289	1	0	0	0	0	0	0	0	1	6445	639	23	1		1	GLIS1	1	53995560	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	34814427	53995560	195255061	2	30276											
SFRS11	9295	broad.mit.edu	37	chr1	70715634	70715634	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttgcacatttgtgattctaGagagagacgacgacgaagaa	11	6	1	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:70715634G>C	ENST00000370950.3	+	11	1104		c.e11-1		SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TGTGATTCTAGAGAGAGACGA	0.418																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.e11-1		serine/arginine-rich splicing factor 11							77	83	81					1																	70715634		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70715634G>C	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1023-1G>C	1.37:g.70715634G>C						SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site				Q05519	SRS11_HUMAN			11	1104	+								Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37		CCDS647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.06|19.06	3.753326|3.753326	0.69648|0.69648	.|.	.|.	ENSG00000116754|ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949|ENST00000395136	.|T	.|0.14640	.|2.49	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04634	.|0.0126	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.38504	.|0.634	.|B	.|0.30572	.|0.117	.|T	.|0.41893	.|-0.9483	.|8	.|0.18276	.|T	.|0.48	.|.	19.2521|19.2521	0.93929|0.93929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|348	.|Q6PJB9	.|.	.|T	-1|348	.|ENSP00000378568:R348T	.|ENSP00000378568:R348T	.|R	+|+	.|2	.|0	SRSF11|SRSF11	70488222|70488222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	4.925000|4.925000	0.63425|0.63425	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	.|AGA		0.418	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	5	37	0	0	0	1	0	5	37					C	70715634	G	C	70715634	5	2	289	1	0	0	0	0	0	0	1	0	14166	956	33	4	1060	4	SFRS11	1	70715634	Splice_Site	SNP	G	TCGA-HT-7882-01A-11D-2395-08	16720074	70715634	178534987	3	30277											
FMO3	2328	broad.mit.edu	37	chr1	171079965	171079965	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcagttccagaagtggctcCtgggtgatgagccgggtctg	15	9	2	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:171079965C>G	ENST00000367755.4	+	6	765	c.654C>G	c.(652-654)tcC>tcG	p.S218S	FMO3_ENST00000538429.1_Silent_p.S155S|FMO3_ENST00000542847.1_Silent_p.S198S|FMO3_ENST00000392085.2_Silent_p.S218S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	218					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAAGTGGCTCCTGGGTGATGA	0.473																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(652-654)tcC>tcG		flavin containing monooxygenase 3							183	165	171					1																	171079965		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171079965C>G	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.654C>G	1.37:g.171079965C>G						FMO3_ENST00000542847.1_Silent_p.S198S|FMO3_ENST00000392085.2_Silent_p.S218S|FMO3_ENST00000538429.1_Silent_p.S155S	p.S218S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			6	765	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		218					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.654C>G	CCDS1292.1																																																																																				0.473	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		10	96	0	0	0	1	0	10	96					G	171079965	C	G	171079965	2	3	289	1	0	0	0	0	0	0	0	1	5956	668	24	4		4	FMO3	1	171079965	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	100364331	171079965	78170656	4	30278											
CFH	3075	broad.mit.edu	37	chr1	196716352	196716352	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcagttgaatttgtgtgtaAacggggatatcgtctttcat	10	5	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:196716352A>T	ENST00000367429.4	+	22	3845	c.3605A>T	c.(3604-3606)aAa>aTa	p.K1202I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1202	Sushi 20. {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						TTTGTGTGTAAACGGGGATAT	0.383																																						ENST00000367429.4																			0				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						c.(3604-3606)aAa>aTa		complement factor H							219	196	204					1																	196716352		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196716352A>T	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.3605A>T	1.37:g.196716352A>T	ENSP00000356399:p.Lys1202Ile						p.K1202I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			22	3845	+			1202			Sushi 20.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3605A>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.653953	0.29425	.	.	ENSG00000000971	ENST00000367429	D	0.85773	-2.03	4.17	-3.4	0.04853	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75975	0.3923	L	0.60904	1.88	0.09310	N	0.999999	B	0.26400	0.148	B	0.25506	0.061	T	0.58679	-0.7594	9	0.17832	T	0.49	.	4.3752	0.11267	0.4994:0.0:0.1591:0.3414	.	1202	P08603	CFAH_HUMAN	I	1202	ENSP00000356399:K1202I	ENSP00000356399:K1202I	K	+	2	0	CFH	194982975	0.126000	0.22350	0.002000	0.10522	0.000000	0.00434	0.058000	0.14301	-0.725000	0.04901	-1.815000	0.00603	AAA		0.383	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		15	85	0	0	0	1	0	15	85					T	196716352	A	T	196716352	3	4	289	1	0	0	0	0	1	0	0	0	3283	14	1	5	3709	5	CFH	1	196716352	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	25636387	196716352	52534269	5	30279											
KDM5B	10765	broad.mit.edu	37	chr1	202702739	202702739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggaggcgagcaggggCagaattttctctaatggagg	17	5	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:202702739C>T	ENST00000367265.3	-	23	4863	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	KDM5B_ENST00000367264.2_Silent_p.L1269L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1233					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						CGAGCAGGGGCAGAATTTTCT	0.532																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3697-3699)ctG>ctA		lysine (K)-specific demethylase 5B							60	61	60					1																	202702739		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702739C>T	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.3699G>A	1.37:g.202702739C>T						KDM5B_ENST00000367264.2_Silent_p.L1269L	p.L1233L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			23	4863	-			1233					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.3699G>A	CCDS30974.1																																																																																				0.532	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		14	68	0	0	0	1	0	14	68					T	202702739	C	T	202702739	2	4	289	1	0	0	0	0	0	0	0	1	8134	697	25	2		2	KDM5B	1	202702739	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	5986387	202702739	46547882	6	30280											
OR13G1	441933	broad.mit.edu	37	chr1	247835492	247835492	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctggaagctgtacaccatCgggtttaatgtgggagtcac	12	8	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:247835492C>T	ENST00000359688.2	-	1	873	c.852G>A	c.(850-852)ccG>ccA	p.P284P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	284						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(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(850-852)ccG>ccA		olfactory receptor, family 13, subfamily G, member 1							108	113	111					1																	247835492		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835492C>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.852G>A	1.37:g.247835492C>T						RP11-634B7.4_ENST00000449298.1_RNA	p.P284P	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	873	-	all_cancers(71;3.24e-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)		284					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.852G>A	CCDS31094.1																																																																																				0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		16	81	0	0	0	1	0	16	81					T	247835492	C	T	247835492	2	4	289	1	0	0	0	0	0	0	0	1	10942	871	31	1		1	OR13G1	1	247835492	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	45132753	247835492	1415129	7	30281											
DPP10	57628	broad.mit.edu	37	chr2	116497433	116497433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctcggtttactggagcGttgtatcccaaaggaaagca	10	10	0	0	rs573090640		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:116497433G>A	ENST00000410059.1	+	9	1296	c.816G>A	c.(814-816)gcG>gcA	p.A272A	DPP10_ENST00000409163.1_Silent_p.A222A|DPP10_ENST00000310323.8_Silent_p.A265A|DPP10_ENST00000393147.2_Silent_p.A276A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	272						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						TTACTGGAGCGTTGTATCCCA	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.0					ENST00000410059.1																			0				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						c.(814-816)gcG>gcA		dipeptidyl-peptidase 10 (non-functional)							235	206	216					2																	116497433		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497433G>A	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.816G>A	2.37:g.116497433G>A						DPP10_ENST00000393147.2_Silent_p.A276A|DPP10_ENST00000310323.8_Silent_p.A265A|DPP10_ENST00000409163.1_Silent_p.A222A	p.A272A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			9	1296	+			272					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.816G>A	CCDS46400.1																																																																																				0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		19	119	0	0	0	1	0	19	119					A	116497433	G	A	116497433	2	1	289	1	0	0	0	0	0	0	0	1	4727	1132	40	1		1	DPP10	2	116497433	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		116497433	126701940	8	30282											
POTEE	445582	broad.mit.edu	37	chr2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccaggtaccacgtccGtggagaagatctggacaagc	14	11	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:131976382G>A	ENST00000356920.5	+	1	501	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TACCACGTCCGTGGAGAAGAT	0.592																																						ENST00000356920.5																			0											c.(406-408)cGt>cAt		POTE ankyrin domain family, member E							64	67	66					2																	131976382		2202	4300	6502	SO:0001583	missense	445582						ATP binding	g.chr2:131976382G>A	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.407G>A	2.37:g.131976382G>A	ENSP00000439189:p.Arg136His					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H	p.R136H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	501	+			136					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.407G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578417	0.28180	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.05	-2.11	0.07187	.	.	.	.	.	T	0.32645	0.0836	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.47744	0.556	T	0.16778	-1.0391	9	0.44086	T	0.13	.	2.6334	0.04951	0.2337:0.3068:0.4596:0.0	.	136	Q6S8J3	POTEE_HUMAN	H	136	ENSP00000439189:R136H;ENSP00000443049:R136H	ENSP00000439189:R136H	R	+	2	0	AC131180.1	131692852	0.000000	0.05858	0.002000	0.10522	0.096000	0.18686	-0.035000	0.12205	-0.514000	0.06488	-1.597000	0.00832	CGT		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		13	90	0	0	0	1	0	13	90					A	131976382	G	A	131976382	3	1	289	1	0	0	0	0	1	0	0	0	12264	1145	40	1	409	1	POTEE	2	131976382	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	15478949	131976382	111222991	9	30283											
CWC22	57703	broad.mit.edu	37	chr2	180810177	180810177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcttggtctctgtcAttcgcaactctactgtagtt	7	10	4	0	rs572443430		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:180810177A>G	ENST00000410053.3	-	20	2705	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	CWC22_ENST00000295749.6_Silent_p.N802N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	802					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGTCTCTGTCATTCGCAACTC	0.353																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2404-2406)aaT>aaC		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							234	223	226					2																	180810177		1858	4098	5956	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810177A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2406T>C	2.37:g.180810177A>G						CWC22_ENST00000295749.6_Silent_p.N802N	p.N802N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2705	-			802					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.2406T>C	CCDS46465.1																																																																																				0.353	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		9	117	0	0	0	1	0	9	117					G	180810177	A	G	180810177	2	3	289	1	0	0	0	0	0	0	0	1	4068	214	8	3		3	CWC22	2	180810177	Silent	SNP	A	TCGA-HT-7882-01A-11D-2395-08	48833795	180810177	62389196	10	30284											
CEP97	79598	broad.mit.edu	37	chr3	101476897	101476897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagaaagctggactattaCcttgtcctgagccaacaata	8	9	0	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:101476897C>T	ENST00000341893.3	+	9	2199	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	CEP97_ENST00000327230.4_Missense_Mutation_p.P483S|CEP97_ENST00000494050.1_Missense_Mutation_p.P424S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	483	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGACTATTACCTTGTCCTGA	0.378																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1447-1449)Cct>Tct		centrosomal protein 97kDa							110	111	111					3																	101476897		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476897C>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1447C>T	3.37:g.101476897C>T	ENSP00000342510:p.Pro483Ser					CEP97_ENST00000494050.1_Missense_Mutation_p.P424S|CEP97_ENST00000327230.4_Missense_Mutation_p.P483S	p.P483S			Q8IW35	CEP97_HUMAN			9	2199	+			483			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1447C>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	0.292	-0.979209	0.02197	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.52754	0.81;0.76;0.65	5.37	4.48	0.54585	.	0.753475	0.12531	N	0.460832	T	0.34890	0.0913	L	0.32530	0.975	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.001	B;B;B	0.12156	0.001;0.007;0.001	T	0.20438	-1.0275	10	0.27785	T	0.31	-10.8681	7.572	0.27913	0.0:0.7201:0.1505:0.1293	.	424;483;483	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	S	483;483;424	ENSP00000342510:P483S;ENSP00000325881:P483S;ENSP00000418185:P424S	ENSP00000325881:P483S	P	+	1	0	CEP97	102959587	0.000000	0.05858	0.612000	0.29024	0.007000	0.05969	-0.189000	0.09629	1.210000	0.43336	0.305000	0.20034	CCT		0.378	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		16	75	0	0	0	1	0	16	75					T	101476897	C	T	101476897	3	4	289	1	0	0	0	0	1	0	0	0	3263	507	18	2	1481	2	CEP97	3	101476897	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		101476897	96545533	11	30285											
PIK3CA	5290	broad.mit.edu	37	chr3	178922364	178922364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacactcaaagagtaccttGttccaatcccaggtaaggaa	8	10	1	1	rs397514565		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:178922364G>A	ENST00000263967.3	+	6	1290	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> Y (in MCAP). {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.C378Y(2)|p.C378F(1)		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)	AGAGTACCTTGTTCCAATCCC	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		3	Substitution - Missense(3)	p.C378Y(2)|p.C378F(1)	endometrium(2)|central_nervous_system(1)	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						c.(1132-1134)tGt>tAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							190	150	162					3																	178922364		1837	4093	5930	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922364G>A		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.1133G>A	3.37:g.178922364G>A	ENSP00000263967:p.Cys378Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C378Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1290	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		378			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1133G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145088	0.57044	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.61	5.61	0.85477	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.46157	1.445	0.80722	D	1	P	0.45957	0.869	B	0.42916	0.402	T	0.67055	-0.5767	10	0.05620	T	0.96	-17.9134	19.6274	0.95684	0.0:0.0:1.0:0.0	.	378	P42336	PK3CA_HUMAN	Y	378	ENSP00000263967:C378Y	ENSP00000263967:C378Y	C	+	2	0	PIK3CA	180405058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.382000	0.97209	2.643000	0.89663	0.650000	0.86243	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	49	0	0	0	1	0	4	49					A	178922364	G	A	178922364	3	1	289	1	0	0	0	0	1	0	0	0	11913	1377	48	2	1151	2	PIK3CA	3	178922364	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	77445467	178922364	19100066	12	30286											
B3GNT5	84002	broad.mit.edu	37	chr3	182988131	182988131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcagttgggcaaatacctAttgtccacatgccaaatttc	7	10	1	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:182988131A>G	ENST00000326505.3	+	2	1075	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	182					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACCTATTGTCCACAT	0.333																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(544-546)tAt>tGt		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							94	93	94					3																	182988131		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988131A>G	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"Beta 3-glycosyltransferases"	15684	protein-coding gene	gene with protein product	"lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.545A>G	3.37:g.182988131A>G	ENSP00000316173:p.Tyr182Cys					B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	p.Y182C	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1075	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		182					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.545A>G	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598341	0.46318	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.44083	0.93;0.93;0.93	5.91	1.73	0.24493	.	0.273852	0.36665	N	0.002479	T	0.59715	0.2214	M	0.89658	3.05	0.39485	D	0.96795	D	0.56968	0.978	P	0.53722	0.733	T	0.68364	-0.5428	10	0.56958	D	0.05	.	11.4792	0.50316	0.578:0.0:0.0:0.422	.	182	Q9BYG0	B3GN5_HUMAN	C	182	ENSP00000316173:Y182C;ENSP00000420778:Y182C;ENSP00000417868:Y182C	ENSP00000316173:Y182C	Y	+	2	0	B3GNT5	184470825	1.000000	0.71417	0.858000	0.33744	0.985000	0.73830	2.639000	0.46570	0.399000	0.25367	-0.451000	0.05528	TAT		0.333	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		19	82	0	0	0	1	0	19	82					G	182988131	A	G	182988131	3	3	289	1	0	0	0	0	1	0	0	0	1260	449	16	3	547	3	B3GNT5	3	182988131	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	4065767	182988131	15034299	13	30287											
PDGFRA	5156	broad.mit.edu	37	chr4	55131161	55131161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacgattgtggtcacctGtgctgtttttaacaatgagg	12	6	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:55131161G>A	ENST00000257290.5	+	5	1035	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	235	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.C235Y(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		1	Substitution - Missense(1)	p.C235Y(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(703-705)tGt>tAt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						168	160	163					4																	55131161		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131161G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.704G>A	4.37:g.55131161G>A	ENSP00000257290:p.Cys235Tyr	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	p.C235Y	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1035	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		235			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.704G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468445	0.84533	.	.	ENSG00000134853	ENST00000257290	T	0.73789	-0.78	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34700	U	0.003745	D	0.87767	0.6260	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89420	0.3709	10	0.87932	D	0	.	18.8692	0.92306	0.0:0.0:1.0:0.0	.	235;235	P16234-3;P16234	.;PGFRA_HUMAN	Y	235	ENSP00000257290:C235Y	ENSP00000257290:C235Y	C	+	2	0	PDGFRA	54825918	1.000000	0.71417	0.969000	0.41365	0.816000	0.46133	7.968000	0.87980	2.470000	0.83445	0.491000	0.48974	TGT		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		510	129	0	0	0	1	0	510	129					A	55131161	G	A	55131161	3	1	289	1	0	0	0	0	1	0	0	0	11661	1377	48	2	718	2	PDGFRA	4	55131161	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		55131161	136023115	14	30288											
TET2	54790	broad.mit.edu	37	chr4	106157894	106157894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtttttcctgtgcctgAccagggaggaagtcacactc	10	10	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:106157894A>G	ENST00000540549.1	+	3	3655	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000513237.1_Missense_Mutation_p.D953G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000380013.4_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	932	Gln-rich.				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)		CCTGTGCCTGACCAGGGAGGA	0.453			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				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						c.(2857-2859)gAc>gGc		tet methylcytosine dioxygenase 2							69	60	63					4																	106157894		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157894A>G	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.2795A>G	4.37:g.106157894A>G	ENSP00000442788:p.Asp932Gly					TET2_ENST00000380013.4_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G|TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000540549.1_Missense_Mutation_p.D932G	p.D953G			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3655	+		Myeloproliferative disorder(5;0.0393)	932			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2858A>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666626	0.29604	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.04317	3.65;4.32;3.68;4.32;4.32;3.65;3.66	5.79	2.02	0.26589	.	0.765224	0.11080	U	0.601938	T	0.03348	0.0097	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.14023	0.002;0.002;0.01	T	0.42430	-0.9452	10	0.62326	D	0.03	.	6.5453	0.22402	0.732:0.1318:0.1362:0.0	.	953;932;932	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	G	932;932;932;953;932;932;932	ENSP00000306705:D932G;ENSP00000442788:D932G;ENSP00000442867:D932G;ENSP00000425443:D953G;ENSP00000369351:D932G;ENSP00000378245:D932G;ENSP00000391448:D932G	ENSP00000265149:D932G	D	+	2	0	TET2	106377343	0.184000	0.23200	0.006000	0.13384	0.916000	0.54674	3.258000	0.51507	0.433000	0.26313	0.533000	0.62120	GAC		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		12	37	0	0	0	1	0	12	37					G	106157894	A	G	106157894	3	3	289	1	0	0	0	0	1	0	0	0	15767	275	10	3	2797	3	TET2	4	106157894	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	51026733	106157894	84996382	15	30289											
SLC6A3	6531	broad.mit.edu	37	chr5	1406358	1406358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccagtacaggctgggcCgctgcccggtcatctgctgg	15	15	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406358C>T	ENST00000270349.9	-	12	1671	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	515					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGGCTGGGCCGCTGCCCGGT	0.652																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1543-1545)cGg>cAg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						65	64	64					5																	1406358		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406358C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1544G>A	5.37:g.1406358C>T	ENSP00000270349:p.Arg515Gln					SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q	p.R515Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1671	-			515					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1544G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.762468	0.49574	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75938	-0.98;-0.98	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	T	0.72566	0.3476	M	0.72353	2.195	0.36613	D	0.875315	B	0.33044	0.395	B	0.33620	0.167	T	0.77242	-0.2660	10	0.35671	T	0.21	.	14.03	0.64609	0.0:1.0:0.0:0.0	.	515	Q01959	SC6A3_HUMAN	Q	515	ENSP00000270349:R515Q;ENSP00000399806:R515Q	ENSP00000270349:R515Q	R	-	2	0	SLC6A3	1459358	0.111000	0.22076	1.000000	0.80357	0.912000	0.54170	1.942000	0.40243	1.904000	0.55121	0.298000	0.19748	CGG		0.652	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		9	114	0	0	0	1	0	9	114					T	1406358	C	T	1406358	3	4	289	1	0	0	0	0	1	0	0	0	14685	652	23	1	334	1	SLC6A3	5	1406358	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1406358	179508902	16	30290			1	29		2	2	29	C		5.245892e-05
SLC6A3	6531	broad.mit.edu	37	chr5	1406386	1406386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcatctgctggatgtcgtCgctgaactgcccaacacctg	11	13	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406386C>T	ENST00000270349.9	-	12	1643	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	506					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGATGTCGTCGCTGAACTGC	0.642																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1516-1518)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						76	71	73					5																	1406386		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406386C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1516G>A	5.37:g.1406386C>T	ENSP00000270349:p.Asp506Asn					SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N	p.D506N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1643	-			506					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1516G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	9.262	1.043413	0.19748	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74737	-0.87;-0.87	4.19	4.19	0.49359	.	0.149864	0.48767	U	0.000173	T	0.66356	0.2781	L	0.45352	1.415	0.52099	D	0.999947	B	0.18741	0.03	B	0.17979	0.02	T	0.62941	-0.6747	10	0.30078	T	0.28	.	14.03	0.64609	0.0:1.0:0.0:0.0	.	506	Q01959	SC6A3_HUMAN	N	506	ENSP00000270349:D506N;ENSP00000399806:D506N	ENSP00000270349:D506N	D	-	1	0	SLC6A3	1459386	0.995000	0.38212	0.958000	0.39756	0.425000	0.31504	3.350000	0.52224	1.904000	0.55121	0.298000	0.19748	GAC		0.642	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		11	117	0	0	0	1	0	11	117					T	1406386	C	T	1406386	3	4	289	1	0	0	0	0	1	0	0	0	14685	884	31	1	362	1	SLC6A3	5	1406386	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	28	1406386	179508874	17	30291			1	29		2	2	29	C		5.245892e-05
CDC20B	166979	broad.mit.edu	37	chr5	54424345	54424345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtgagacttaagtctatGttttcaatcccattgtggtt	8	7	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:54424345G>T	ENST00000381375.2	-	7	943	c.798C>A	c.(796-798)aaC>aaA	p.N266K	CDC20B_ENST00000334206.5_Missense_Mutation_p.N266K|CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K			Q86Y33	CD20B_HUMAN	cell division cycle 20B	266										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTAAGTCTATGTTTTCAATCC	0.448																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(796-798)aaC>aaA		cell division cycle 20B							159	162	161					5																	54424345		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54424345G>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.798C>A	5.37:g.54424345G>T	ENSP00000370781:p.Asn266Lys					CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000381375.2_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K	p.N266K			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		7	974	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	266					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.798C>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.886659	0.00527	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.6	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.422460	0.19914	N	0.103239	T	0.14527	0.0351	N	0.17474	0.49	0.43808	D	0.996362	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.002;0.0;0.001	T	0.11131	-1.0600	10	0.51188	T	0.08	-13.9184	1.6593	0.02788	0.2003:0.1616:0.4733:0.1649	.	266;266;266;266	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	K	266	ENSP00000335664:N266K;ENSP00000296733:N266K;ENSP00000370781:N266K;ENSP00000315720:N266K	ENSP00000296733:N266K	N	-	3	2	CDC20B	54460102	0.935000	0.31712	0.850000	0.33497	0.261000	0.26267	-0.049000	0.11924	0.063000	0.16370	0.650000	0.86243	AAC		0.448	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		8	68	1	0	0.00448238	1	0.00460034	8	68					T	54424345	G	T	54424345	3	4	289	1	0	0	0	0	1	0	0	0	3060	1368	48	4	785	4	CDC20B	5	54424345	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	53017959	54424345	126490915	18	30292											
GPR98	84059	broad.mit.edu	37	chr5	89979459	89979459	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattggaacatagactcTgatcctgatggtgatctcgc	10	9	2	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:89979459T>C	ENST00000405460.2	+	28	5817	c.5721T>C	c.(5719-5721)tcT>tcC	p.S1907S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1907	Calx-beta 13. {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)		ACATAGACTCTGATCCTGATG	0.403																																						ENST00000405460.2																			0				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						c.(5719-5721)tcT>tcC		G protein-coupled receptor 98							63	63	63					5																	89979459		1950	4140	6090	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979459T>C	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.5721T>C	5.37:g.89979459T>C							p.S1907S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	5817	+		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)	1907					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.5721T>C	CCDS47246.1																																																																																				0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	25	0	0	0	1	0	3	25					C	89979459	T	C	89979459	2	2	289	1	0	0	0	0	0	0	0	1	6721	1567	55	3		3	GPR98	5	89979459	Silent	SNP	T	TCGA-HT-7882-01A-11D-2395-08	35555114	89979459	90935801	19	30293											
SLCO4C1	353189	broad.mit.edu	37	chr5	101582955	101582955	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctcaacgtgctacataCcttaggatagacacagttat	6	9	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:101582955C>A	ENST00000310954.6	-	10	2098		c.e10+1			NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTGCTACATACCTTAGGATAG	0.378																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.e10+1		solute carrier organic anion transporter family, member 4C1							67	70	69					5																	101582955		2203	4299	6502	SO:0001630	splice_region_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101582955C>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1811+1G>T	5.37:g.101582955C>A								NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	2098	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)							Splice_Site	SNP	ENST00000310954.6	37		CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442008	0.63067	.	.	ENSG00000173930	ENST00000310954	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO4C1	101610854	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.996000	0.63914	2.906000	0.99361	0.655000	0.94253	.		0.378	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	Intron	9	48	1	0	3.09899e-07	1	3.2665e-07	9	48					A	101582955	C	A	101582955	5	1	289	1	0	0	0	0	0	0	1	0	14730	521	18	4	378	4	SLCO4C1	5	101582955	Splice_Site	SNP	C	TCGA-HT-7882-01A-11D-2395-08	11603496	101582955	79332305	20	30294											
C6orf10	10665	broad.mit.edu	37	chr6	32261388	32261388	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtacaaccaacccactcttCgttacttgggcttcttgtcc	6	14	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:32261388C>T	ENST00000447241.2	-	23	1234	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000527965.1_Silent_p.T338T|C6orf10_ENST00000375015.4_Silent_p.T353T|C6orf10_ENST00000533191.1_Silent_p.T352T|C6orf10_ENST00000375007.4_Silent_p.T352T	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	354						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						ACCCACTCTTCGTTACTTGGG	0.468																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1057-1059)acG>acA		chromosome 6 open reading frame 10							200	193	195					6																	32261388		1511	2709	4220	SO:0001819	synonymous_variant	10665					integral to membrane		g.chr6:32261388C>T	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.1062G>A	6.37:g.32261388C>T						C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000375007.4_Silent_p.T352T|C6orf10_ENST00000447241.2_Silent_p.T354T|C6orf10_ENST00000533191.1_Silent_p.T352T|C6orf10_ENST00000527965.1_Silent_p.T338T	p.T353T			Q5SRN2	CF010_HUMAN			26	1259	-			354					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	c.1059G>A	CCDS34422.1																																																																																				0.468	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		20	124	0	0	0	1	0	20	124					T	32261388	C	T	32261388	2	4	289	1	0	0	0	0	0	0	0	1	2317	871	31	1		1	C6orf10	6	32261388	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		32261388	138853679	21	30295											
TEAD3	7005	broad.mit.edu	37	chr6	35445110	35445110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtcggcggcaggggCggctggatggggtaggctgg	23	8	0	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:35445110C>T	ENST00000402886.3	-	6	543	c.390G>A	c.(388-390)ccG>ccA	p.P130P	TEAD3_ENST00000338863.7_Silent_p.P190P			Q99594	TEAD3_HUMAN	TEA domain family member 3	190					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCGGCAGGGGCGGCTGGATGG	0.627																																						ENST00000338863.7																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(568-570)ccG>ccA		TEA domain family member 3							35	45	41					6																	35445110		2028	4180	6208	SO:0001819	synonymous_variant	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35445110C>T	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.390G>A	6.37:g.35445110C>T						TEAD3_ENST00000402886.3_Silent_p.P130P	p.P190P	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			8	797	-			190			Pro-rich.|Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Silent	SNP	ENST00000402886.3	37	c.570G>A																																																																																					0.627	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			3	20	0	0	0	1	0	3	20					T	35445110	C	T	35445110	2	4	289	1	0	0	0	0	0	0	0	1	15737	755	27	1		1	TEAD3	6	35445110	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	3183722	35445110	135669957	22	30296											
PRSS35	167681	broad.mit.edu	37	chr6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattccgaagggctgggcaCgaggaggcatgggggacgct	18	9	0	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:84233953C>T	ENST00000369700.3	+	2	970	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.R265*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	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)		GGGCTGGGCACGAGGAGGCAT	0.527																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(793-795)Cga>Tga		protease, serine, 35							57	61	59					6																	84233953		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233953C>T	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.793C>T	6.37:g.84233953C>T	ENSP00000358714:p.Arg265*					PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R265*	p.R265*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1138	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	265			Peptidase S1.		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.793C>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452436	0.63290	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.91	3.48	0.39840	.	0.260062	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5274	12.8076	0.57622	0.7302:0.2698:0.0:0.0	.	.	.	.	X	265	.	ENSP00000358714:R265X	R	+	1	2	PRSS35	84290672	0.984000	0.35163	0.001000	0.08648	0.161000	0.22273	2.817000	0.48034	0.474000	0.27392	-0.521000	0.04368	CGA		0.527	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		8	60	0	0	0	1	0	8	60					T	84233953	C	T	84233953	4	4	289	1	0	0	0	0	0	1	0	0	12624	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	48788843	84233953	86881114	23	30297											
SAMD3	154075	broad.mit.edu	37	chr6	130497110	130497110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcatcttctatgggtcttCgaacatatttaaagcgatct	6	9	5	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:130497110C>T	ENST00000368134.2	-	10	1306	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000532763.1_Missense_Mutation_p.R231Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	233										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATGGGTCTTCGAACATATTT	0.343																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(691-693)cGa>cAa		sterile alpha motif domain containing 3							113	111	112					6																	130497110		2203	4299	6502	SO:0001583	missense	154075							g.chr6:130497110C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.698G>A	6.37:g.130497110C>T	ENSP00000357116:p.Arg233Gln					SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q	p.R231Q			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	821	-			233					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.692G>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798084	0.90538	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.79141	-1.14;-1.24;-1.14;-1.14;-0.42	5.69	5.69	0.88448	.	0.000000	0.53938	D	0.000052	T	0.72471	0.3464	M	0.76002	2.32	0.80722	D	1	D	0.58620	0.983	P	0.44422	0.449	T	0.78513	-0.2175	10	0.66056	D	0.02	.	12.3161	0.54958	0.0:0.9226:0.0:0.0774	.	233	Q8N6K7	SAMD3_HUMAN	Q	233;257;233;233;231	ENSP00000357116:R233Q;ENSP00000402092:R257Q;ENSP00000403565:R233Q;ENSP00000391163:R233Q;ENSP00000436088:R231Q	ENSP00000357116:R233Q	R	-	2	0	SAMD3	130538803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.483000	0.53194	2.677000	0.91161	0.655000	0.94253	CGA		0.343	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		9	43	0	0	0	1	0	9	43					T	130497110	C	T	130497110	3	4	289	1	0	0	0	0	1	0	0	0	13820	884	31	1	884	1	SAMD3	6	130497110	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	46263157	130497110	40617957	24	30298											
PDE7B	27115	broad.mit.edu	37	chr6	136494954	136494954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgtctgtgctggagaAtcatcactggcgatctacaa	10	8	4	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:136494954A>G	ENST00000308191.6	+	9	1034	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	244	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTGCTGGAGAATCATCACTGG	0.428																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(730-732)aAt>aGt		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						111	98	102					6																	136494954		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136494954A>G	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.731A>G	6.37:g.136494954A>G	ENSP00000310661:p.Asn244Ser					RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	p.N244S	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	9	1034	+	Colorectal(23;0.24)		244			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.731A>G	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619809	0.46736	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	D	0.83250	-1.7	5.48	5.48	0.80851	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043524	0.85682	D	0.000000	T	0.72342	0.3448	L	0.51914	1.62	0.53005	D	0.999969	P;P	0.37636	0.495;0.603	B;B	0.35931	0.091;0.214	T	0.77115	-0.2707	10	0.51188	T	0.08	.	15.8657	0.79063	1.0:0.0:0.0:0.0	.	296;244	A1E5M1;Q9NP56	.;PDE7B_HUMAN	S	244;380	ENSP00000310661:N244S	ENSP00000310661:N244S	N	+	2	0	PDE7B	136536647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.441000	0.80485	2.207000	0.71202	0.460000	0.39030	AAT		0.428	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			10	40	0	0	0	1	0	10	40					G	136494954	A	G	136494954	3	3	289	1	0	0	0	0	1	0	0	0	11652	101	4	3	765	3	PDE7B	6	136494954	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	5997844	136494954	34620113	25	30299											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517983	113517983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgactttcctcaacaGgaagactagtagaagcagag	11	8	1	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:113517983G>A	ENST00000284601.3	-	4	3232	c.3164C>T	c.(3163-3165)cCt>cTt	p.P1055L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1055					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						TTCCTCAACAGGAAGACTAGT	0.363																																						ENST00000284601.3																			0				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						c.(3163-3165)cCt>cTt		protein phosphatase 1, regulatory subunit 3A							172	171	171					7																	113517983		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113517983G>A	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.3164C>T	7.37:g.113517983G>A	ENSP00000284601:p.Pro1055Leu						p.P1055L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3232	-			1055					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3164C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	6.039	0.375558	0.11409	.	.	ENSG00000154415	ENST00000284601	T	0.17691	2.26	5.71	2.95	0.34219	.	0.915169	0.09292	N	0.822179	T	0.33030	0.0849	M	0.69823	2.125	0.09310	N	1	D	0.65815	0.995	P	0.60345	0.873	T	0.13361	-1.0512	10	0.59425	D	0.04	4.0E-4	4.2866	0.10858	0.1345:0.1257:0.6096:0.1303	.	1055	Q16821	PPR3A_HUMAN	L	1055	ENSP00000284601:P1055L	ENSP00000284601:P1055L	P	-	2	0	PPP1R3A	113305219	0.027000	0.19231	0.000000	0.03702	0.016000	0.09150	1.180000	0.32005	0.349000	0.23975	-0.133000	0.14855	CCT		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		18	150	0	0	0	1	0	18	150					A	113517983	G	A	113517983	3	1	289	1	0	0	0	0	1	0	0	0	12371	1000	35	2	208	2	PPP1R3A	7	113517983	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		113517983	45620680	26	30300											
ASZ1	136991	broad.mit.edu	37	chr7	117067417	117067417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccgctacctgagacGtccggtcgagatacccaatc	8	17	0	2	rs113501399		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:117067417G>A	ENST00000284629.2	-	1	160	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TACCTGAGACGTCCGGTCGAG	0.657																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(97-99)aCg>aTg		ankyrin repeat, SAM and basic leucine zipper domain containing 1							106	100	102					7																	117067417		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067417G>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.98C>T	7.37:g.117067417G>A	ENSP00000284629:p.Thr33Met						p.T33M	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	160	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		33						Missense_Mutation	SNP	ENST00000284629.2	37	c.98C>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269416	0.40095	.	.	ENSG00000154438	ENST00000284629	T	0.67865	-0.29	5.06	3.24	0.37175	.	1.265160	0.05020	N	0.472573	T	0.50905	0.1643	N	0.22421	0.69	0.09310	N	1	P;P	0.41710	0.76;0.76	B;B	0.34873	0.191;0.191	T	0.46624	-0.9178	10	0.56958	D	0.05	-6.8874	6.5903	0.22644	0.0906:0.0:0.7327:0.1767	.	33;33	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	M	33	ENSP00000284629:T33M	ENSP00000284629:T33M	T	-	2	0	ASZ1	116854653	0.011000	0.17503	0.020000	0.16555	0.213000	0.24496	1.408000	0.34668	0.819000	0.34492	-0.150000	0.13652	ACG		0.657	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		24	148	0	0	0	1	0	24	148					A	117067417	G	A	117067417	3	1	289	1	0	0	0	0	1	0	0	0	1069	1145	40	1	1381	1	ASZ1	7	117067417	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	3549434	117067417	42071246	27	30301											
JHDM1D	80853	broad.mit.edu	37	chr7	139810958	139810958	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctaacattgtctggAatttcaaaggcatgttcaga	9	8	4	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:139810958A>C	ENST00000397560.2	-	11	1462	c.1365T>G	c.(1363-1365)atT>atG	p.I455M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I455M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		455					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CATTGTCTGGAATTTCAAAGG	0.294																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1363-1365)atT>atG									116	107	110					7																	139810958		1810	4075	5885	SO:0001583	missense	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139810958A>C																												ENST00000397560.2:c.1365T>G	7.37:g.139810958A>C	ENSP00000380692:p.Ile455Met					JHDM1D_ENST00000006967.5_Missense_Mutation_p.I455M	p.I455M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			11	1462	-	Melanoma(164;0.0142)		455					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1365T>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153987	0.57259	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.55413	0.52;0.52	5.4	4.23	0.50019	.	0.172377	0.51477	D	0.000085	T	0.54271	0.1848	L	0.52905	1.665	0.42695	D	0.993598	D	0.55172	0.97	P	0.50708	0.648	T	0.57365	-0.7824	10	0.87932	D	0	-18.6431	8.2379	0.31638	0.8393:0.0:0.1607:0.0	.	455	Q6ZMT4	KDM7_HUMAN	M	455	ENSP00000380692:I455M;ENSP00000006967:I455M	ENSP00000006967:I455M	I	-	3	3	JHDM1D	139457427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.248000	0.32827	0.966000	0.38159	0.533000	0.62120	ATT		0.294	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			6	35	0	0	0	1	0	6	35					C	139810958	A	C	139810958	3	2	289	1	0	0	0	0	1	0	0	0	7948	242	9	5	1500	5	JHDM1D	7	139810958	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	22743541	139810958	19327705	28	30302											
TAS2R40	259286	broad.mit.edu	37	chr7	142919425	142919425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattttcagtctgctattccGaattgtttataaccaaaact	4	9	2	0	rs374345239		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:142919425G>A	ENST00000408947.3	+	1	296	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTGCTATTCCGAATTGTTTAT	0.433																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(253-255)cGa>cAa		taste receptor, type 2, member 40		G	GLN/ARG	1,3789		0,1,1894	134	130	131		254	-9.7	0	7		131	0,8262		0,0,4131	no	missense	TAS2R40	NM_176882.1	43	0,1,6025	AA,AG,GG		0.0,0.0264,0.0083	benign	85/324	142919425	1,12051	1895	4131	6026	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919425G>A	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.254G>A	7.37:g.142919425G>A	ENSP00000386210:p.Arg85Gln						p.R85Q	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	296	+	Melanoma(164;0.059)		85					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.254G>A	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537388	0.27475	2.64E-4	0.0	ENSG00000221937	ENST00000408947	T	0.37058	1.22	4.95	-9.74	0.00509	.	2.041890	0.02853	U	0.129314	T	0.21307	0.0513	L	0.31664	0.95	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.07083	-1.0791	10	0.22706	T	0.39	.	7.8451	0.29421	0.1769:0.6043:0.1267:0.0921	.	85	P59535	T2R40_HUMAN	Q	85	ENSP00000386210:R85Q	ENSP00000386210:R85Q	R	+	2	0	TAS2R40	142629547	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-3.847000	0.00351	-1.597000	0.01609	-0.211000	0.12701	CGA		0.433	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			12	113	0	0	0	1	0	12	113					A	142919425	G	A	142919425	3	1	289	1	0	0	0	0	1	0	0	0	15575	1058	37	1	256	1	TAS2R40	7	142919425	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	3108467	142919425	16219238	29	30303											
EFCAB1	79645	broad.mit.edu	37	chr8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcacatgcaggatgtttcGaaatgcattacgatccagtc	9	9	1	0	rs201706002		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.001		0.0	False		,,,				2504	0.0					ENST00000262103.3																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(160-162)Cga>Tga		EF-hand calcium binding domain 1							127	114	118					8																	49643961		2203	4300	6503	SO:0001587	stop_gained	79645						calcium ion binding	g.chr8:49643961G>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.160C>T	8.37:g.49643961G>A	ENSP00000262103:p.Arg54*					EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron	p.R54*	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN			2	240	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	54					B4DSB4|E7EVN7	Nonsense_Mutation	SNP	ENST00000262103.3	37	c.160C>T	CCDS6145.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.154769	0.94686	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	.	.	.	4.89	1.95	0.26073	.	0.052062	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.917	0.52771	0.0:0.0:0.386:0.614	.	.	.	.	X	54	.	ENSP00000262103:R54X	R	-	1	2	EFCAB1	49806514	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	1.451000	0.35145	0.285000	0.22329	-0.188000	0.12872	CGA		0.393	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		6	31	0	0	0	1	0	6	31					A	49643961	G	A	49643961	4	1	289	1	0	0	0	0	0	1	0	0	4933	1066	37	1	495	1	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49643961	96720061	30	30304											
ASS1	445	broad.mit.edu	37	chr9	133333962	133333962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaagtatgtgtcccacGgcgccacaggaaaggtgagg	16	10	0	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:133333962G>A	ENST00000372394.1	+	5	830	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	ASS1_ENST00000372393.3_Missense_Mutation_p.G117S|ASS1_ENST00000352480.5_Missense_Mutation_p.G117S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	117			G -> D (in CTLN1). {ECO:0000269|PubMed:11708871, ECO:0000269|PubMed:12815590}.|G -> S (in CTLN1). {ECO:0000269|PubMed:12815590}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTGTCCCACGGCGCCACAGG	0.657																																						ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17	GRCh37	CM031623	ASS1	M		c.(349-351)Ggc>Agc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						17	17	17					9																	133333962		2202	4300	6502	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133333962G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.349G>A	9.37:g.133333962G>A	ENSP00000361471:p.Gly117Ser					ASS1_ENST00000352480.5_Missense_Mutation_p.G117S|ASS1_ENST00000372393.3_Missense_Mutation_p.G117S	p.G117S			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	5	830	+			117		G -> D (in CTLN1).|G -> S (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.349G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316936	0.81469	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.99541	-6.12;-6.12;-6.12;-6.12;-6.12	4.95	4.95	0.65309	Rossmann-like alpha/beta/alpha sandwich fold (1);Argininosuccinate synthase, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99670	0.9877	H	0.94462	3.54	0.80722	D	1	P;P;P	0.47106	0.89;0.89;0.89	P;P;P	0.57502	0.822;0.822;0.822	D	0.97321	0.9944	10	0.87932	D	0	.	17.1716	0.86832	0.0:0.0:1.0:0.0	.	117;117;117	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	S	117	ENSP00000253004:G117S;ENSP00000361471:G117S;ENSP00000361469:G117S;ENSP00000394212:G117S;ENSP00000397785:G117S	ENSP00000361470:G117S	G	+	1	0	ASS1	132323783	1.000000	0.71417	0.719000	0.30619	0.546000	0.35178	8.492000	0.90471	2.280000	0.76307	0.650000	0.86243	GGC		0.657	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		5	22	0	0	0	1	0	5	22					A	133333962	G	A	133333962	3	1	289	1	0	0	0	0	1	0	0	0	1061	1116	39	1	359	1	ASS1	9	133333962	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		133333962	7879469	31	30305											
SURF2	6835	broad.mit.edu	37	chr9	136227174	136227174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaggaccttggaagcaCggaggatggggatggcactg	17	7	0	1	rs587600299	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:136227174C>T	ENST00000371964.4	+	5	592	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	184						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTTGGAAGCACGGAGGATGGG	0.527													c|||	2	0.000399361	0.0	0.0	5008	,	,		22016	0.002		0.0	False		,,,				2504	0.0					ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(550-552)aCg>aTg		surfeit 2							122	114	116					9																	136227174		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227174C>T		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.551C>T	9.37:g.136227174C>T	ENSP00000361032:p.Thr184Met						p.T184M	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	5	592	+			184					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.551C>T	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508402	0.27036	.	.	ENSG00000148291	ENST00000371964	T	0.31510	1.49	4.04	4.04	0.47022	.	0.624222	0.15379	N	0.265435	T	0.30230	0.0758	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.16100	-1.0414	10	0.48119	T	0.1	-0.3918	14.2023	0.65712	0.0:1.0:0.0:0.0	.	184	Q15527	SURF2_HUMAN	M	184	ENSP00000361032:T184M	ENSP00000361032:T184M	T	+	2	0	SURF2	135216995	0.002000	0.14202	0.005000	0.12908	0.013000	0.08279	1.629000	0.37071	2.177000	0.69029	0.455000	0.32223	ACG		0.527	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		4	49	0	0	0	1	0	4	49					T	136227174	C	T	136227174	3	4	289	1	0	0	0	0	1	0	0	0	15401	536	19	1	569	1	SURF2	9	136227174	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	2893212	136227174	4986257	32	30306											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118364948	118364948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagtttgatgcaaagcTggatgttggaacaattgaga	12	4	0	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:118364948T>C	ENST00000528052.1	+	12	1294	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	408	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGCAAAGCTGGATGTTGGA	0.413																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(1222-1224)cTg>cCg		pancreatic lipase-related protein 1							148	146	147					10																	118364948		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118364948T>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1223T>C	10.37:g.118364948T>C	ENSP00000433933:p.Leu408Pro					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P	p.L408P			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	12	1294	+			408			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.1223T>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	-	19.95	3.921093	0.73213	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.64085	-0.08;-0.08;-0.08	5.53	5.53	0.82687	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.603585	0.16428	N	0.214840	T	0.73674	0.3617	M	0.77820	2.39	0.32740	N	0.507842	D	0.61080	0.989	P	0.58013	0.831	T	0.80412	-0.1393	10	0.52906	T	0.07	-2.7852	9.2307	0.37434	0.0:0.082:0.0:0.918	.	408	P54315	LIPR1_HUMAN	P	408	ENSP00000351695:L408P;ENSP00000433933:L408P;ENSP00000434159:L408P	ENSP00000351695:L408P	L	+	2	0	PNLIPRP1	118354938	0.012000	0.17670	0.004000	0.12327	0.969000	0.65631	1.954000	0.40362	2.092000	0.63282	0.449000	0.29647	CTG		0.413	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		6	89	0	0	0	1	0	6	89					C	118364948	T	C	118364948	3	2	289	1	0	0	0	0	1	0	0	0	12150	1580	55	3	1265	3	PNLIPRP1	10	118364948	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08		118364948	17169799	33	30307											
MKI67	4288	broad.mit.edu	37	chr10	129902797	129902797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctttgaagccaaccaggTcctctagagcctcagccttt	8	13	3	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:129902797T>C	ENST00000368654.3	-	13	7682	c.7307A>G	c.(7306-7308)gAc>gGc	p.D2436G	MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2436	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)				GCCAACCAGGTCCTCTAGAGC	0.473																																						ENST00000368654.3																			0				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						c.(7306-7308)gAc>gGc		marker of proliferation Ki-67							142	135	137					10																	129902797		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902797T>C	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.7307A>G	10.37:g.129902797T>C	ENSP00000357643:p.Asp2436Gly					MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G	p.D2436G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7682	-		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)	2436			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7307A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.956969	0.53293	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.06371	3.31;3.31	3.85	3.85	0.44370	.	0.846639	0.10080	N	0.718586	T	0.22936	0.0554	M	0.70595	2.14	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.953;0.995;0.999	T	0.08889	-1.0700	10	0.33141	T	0.24	.	11.5098	0.50486	0.0:0.0:0.0:1.0	.	2435;2076;2436	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	2436;2076;2435	ENSP00000357643:D2436G;ENSP00000357642:D2076G	ENSP00000357642:D2076G	D	-	2	0	MKI67	129792787	0.265000	0.24102	0.008000	0.14137	0.014000	0.08584	0.994000	0.29693	1.508000	0.48769	0.379000	0.24179	GAC		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		25	101	0	0	0	1	0	25	101					C	129902797	T	C	129902797	3	2	289	1	0	0	0	0	1	0	0	0	9598	1667	58	3	2475	3	MKI67	10	129902797	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08	11537849	129902797	5631950	34	30308											
CCKBR	887	broad.mit.edu	37	chr11	6292257	6292257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggctgttcaccagaaCgggcgttgccggcctgagac	15	12	2	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:6292257C>T	ENST00000334619.2	+	5	1021	c.828C>T	c.(826-828)aaC>aaT	p.N276N	CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Silent_p.N345N	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	276					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)			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)	TTCACCAGAACGGGCGTTGCC	0.662																																						ENST00000525462.1																			0				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						c.(1033-1035)aaC>aaT		cholecystokinin B receptor	Pentagastrin(DB00183)						45	47	47					11																	6292257		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292257C>T	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.828C>T	11.37:g.6292257C>T						CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000334619.2_Silent_p.N276N	p.N345N			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1038	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	276					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.1035C>T	CCDS7761.1																																																																																				0.662	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		13	110	0	0	0	1	0	13	110					T	6292257	C	T	6292257	2	4	289	1	0	0	0	0	0	0	0	1	2881	535	19	1		1	CCKBR	11	6292257	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		6292257	128714259	35	30309											
MADD	8567	broad.mit.edu	37	chr11	47304014	47304014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaccctgcgcctctttcctCggcctgtggtagcttttcaa	9	14	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:47304014C>T	ENST00000311027.5	+	9	1717	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000342922.4_Missense_Mutation_p.R518W|MADD_ENST00000402192.2_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000349238.3_Missense_Mutation_p.R518W	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)		CCTCTTTCCTCGGCCTGTGGT	0.562																																						ENST00000342922.4																			0				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						c.(1552-1554)Cgg>Tgg		MAP-kinase activating death domain							113	109	111					11																	47304014		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47304014C>T	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.1552C>T	11.37:g.47304014C>T	ENSP00000310933:p.Arg518Trp					MADD_ENST00000402192.2_Missense_Mutation_p.R518W|MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000349238.3_Missense_Mutation_p.R518W|MADD_ENST00000311027.5_Missense_Mutation_p.R518W|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W	p.R518W	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	9	1909	+			518			dDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.1552C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608697	0.96626	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.77	5.77	0.91146	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.68317	2.08	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;0.999;0.999;0.999;1.0;1.0	T	0.70197	-0.4938	10	0.87932	D	0	-17.4453	20.3473	0.98799	0.0:1.0:0.0:0.0	.	518;518;518;518;518;518;518;518;518;518	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	W	518	ENSP00000343902:R518W;ENSP00000385585:R518W;ENSP00000384435:R518W;ENSP00000304505:R518W;ENSP00000310933:R518W;ENSP00000384204:R518W;ENSP00000378753:R518W;ENSP00000378745:R518W;ENSP00000384287:R518W	ENSP00000310933:R518W	R	+	1	2	MADD	47260590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.419000	0.80179	2.884000	0.98904	0.655000	0.94253	CGG		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			10	85	0	0	0	1	0	10	85					T	47304014	C	T	47304014	3	4	289	1	0	0	0	0	1	0	0	0	9152	875	31	1	1582	1	MADD	11	47304014	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41011757	47304014	87702502	36	30310											
OR4P4	81300	broad.mit.edu	37	chr11	55406511	55406511	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtataccatcagagcataCtctgcagagagacgcagcaa	9	10	2	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55406511C>A	ENST00000314612.2	+	1	678	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	226						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAGAGCATACTCTGCAGAGA	0.388																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(676-678)taC>taA		olfactory receptor, family 4, subfamily P, member 4							176	125	143					11																	55406511		2181	4027	6208	SO:0001587	stop_gained	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406511C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.678C>A	11.37:g.55406511C>A	ENSP00000324831:p.Tyr226*						p.Y226*	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	678	+			226						Nonsense_Mutation	SNP	ENST00000314612.2	37	c.678C>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	2.589	-0.295740	0.05532	.	.	ENSG00000181927	ENST00000314612	.	.	.	5.51	-4.79	0.03200	.	0.212728	0.23881	N	0.043641	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.8421	15.5286	0.75932	0.0:0.5182:0.0:0.4818	.	.	.	.	X	226	.	ENSP00000324831:Y226X	Y	+	3	2	OR4P4	55163087	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-8.878000	0.00016	-1.211000	0.02624	-0.847000	0.03039	TAC		0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		6	62	1	0	3.59834e-05	1	3.74227e-05	6	62					A	55406511	C	A	55406511	4	1	289	1	0	0	0	0	0	1	0	0	11080	576	20	4	680	4	OR4P4	11	55406511	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	8102497	55406511	79600005	37	30311											
OR5L1	219437	broad.mit.edu	37	chr11	55579059	55579059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatctatggagtcacgttGttagccaacctgggcatgat	10	10	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55579059G>T	ENST00000333973.2	+	1	206	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	39						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)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAACC	0.507																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(115-117)ttG>ttT		olfactory receptor, family 5, subfamily L, member 1							312	274	287					11																	55579059		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579059G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.117G>T	11.37:g.55579059G>T	ENSP00000335529:p.Leu39Phe						p.L39F	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	206	+		all_epithelial(135;0.208)	39					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.117G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	3.594	-0.083070	0.07141	.	.	ENSG00000186117	ENST00000333973	T	0.00558	6.61	4.32	-8.64	0.00874	.	0.380249	0.19348	N	0.116465	T	0.00496	0.0016	M	0.64630	1.985	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.48305	-0.9047	10	0.62326	D	0.03	-23.9225	7.2171	0.25965	0.146:0.2406:0.5121:0.1013	.	39	Q8NGL2	OR5L1_HUMAN	F	39	ENSP00000335529:L39F	ENSP00000335529:L39F	L	+	3	2	OR5L1	55335635	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.428000	0.00235	-4.564000	0.00042	-2.449000	0.00209	TTG		0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		33	209	1	0	4.74835e-14	1	5.07358e-14	33	209					T	55579059	G	T	55579059	3	4	289	1	0	0	0	0	1	0	0	0	11170	1368	48	4	119	4	OR5L1	11	55579059	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	172548	55579059	79427457	38	30312											
DYNC2H1	79659	broad.mit.edu	37	chr11	102995846	102995846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtattgaggctagtagtcGaattatggaattggattcta	11	3	1	1	rs561232842		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:102995846G>A	ENST00000375735.2	+	12	1823	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	560	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTAGTCGAATTATGGAA	0.333																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(1678-1680)cGa>cAa		dynein, cytoplasmic 2, heavy chain 1							81	77	78					11																	102995846		1823	4083	5906	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102995846G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1679G>A	11.37:g.102995846G>A	ENSP00000364887:p.Arg560Gln					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q	p.R560Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	12	1823	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	560			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1679G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285966	0.40394	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.34472	1.62;1.36;1.63	5.42	3.55	0.40652	Dynein heavy chain, domain-1 (1);	0.858079	0.09020	U	0.860377	T	0.31575	0.0801	L	0.45581	1.43	0.28334	N	0.921672	B;B;B	0.15473	0.013;0.002;0.001	B;B;B	0.12837	0.006;0.005;0.008	T	0.31194	-0.9952	10	0.59425	D	0.04	.	5.7322	0.18047	0.2424:0.185:0.5725:0.0	.	560;560;560	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Q	560	ENSP00000364887:R560Q;ENSP00000334021:R560Q;ENSP00000381167:R560Q	ENSP00000334021:R560Q	R	+	2	0	DYNC2H1	102501056	0.996000	0.38824	0.999000	0.59377	0.947000	0.59692	2.464000	0.45067	0.657000	0.30906	0.650000	0.86243	CGA		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	14	0	0	0	1	0	7	14					A	102995846	G	A	102995846	3	1	289	1	0	0	0	0	1	0	0	0	4846	1058	37	1	1725	1	DYNC2H1	11	102995846	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	47416787	102995846	32010670	39	30313											
NAV3	89795	broad.mit.edu	37	chr12	78401085	78401105	+	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	CCAAGCTTCTCCTTCTGGTTC	-													ttggaaggaagggaagctggCcaagcttctccttctggttc							TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	ENST00000397909.2	+	8	1940_1960	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC	c.(1765-1788)ggccaagcttctccttctggttcc>ggc	p.QASPSGS590del	NAV3_ENST00000266692.7_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000536525.2_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000228327.6_In_Frame_Del_p.QASPSGS590del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	590						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						GGGAAGCTGGCCAAGCTTCTCCTTCTGGTTCCTGTACCATG	0.534										HNSCC(70;0.22)																												ENST00000397909.2																			0				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						c.(1765-1788)ggc>gg		neuron navigator 3																																				SO:0001651	inframe_deletion	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	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.1767_1787delCCAAGCTTCTCCTTCTGGTTC	12.37:g.78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	ENSP00000381007:p.Gln590_Ser596del	HNSCC(70;0.22)				NAV3_ENST00000228327.6_In_Frame_Del_p.GQASPSGS589del|NAV3_ENST00000266692.7_In_Frame_Del_p.GQASPSGS589del|NAV3_ENST00000536525.2_In_Frame_Del_p.GQASPSGS589del	p.GQASPSGS589del			Q8IVL0	NAV3_HUMAN			8	1940_1960	+			589					Q8NFW7|Q9Y2E7	In_Frame_Del	DEL	ENST00000397909.2	37	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC																																																																																					0.534	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	119						7	119	---	---	---	---	-	78401105	CCAAGCTTCTCCTTCTGGTTC	-	78401085	7	5	289	1	0	1	0	1	0	0	0	0	10185	726	26	0	1797	0	NAV3	12	78401085	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	TCGA-HT-7882-01A-11D-2395-08		78401085	55450810	40	30314											
RASAL1	8437	broad.mit.edu	37	chr12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccacctgagctggtcccGccccaggagcagctgccgat	11	18	0	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:113539707G>A	ENST00000261729.5	-	20	2524	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	RASAL1_ENST00000418411.2_5'Flank|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000546530.1_Missense_Mutation_p.R739W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					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						AGCTGGTCCCGCCCCAGGAGC	0.627																																						ENST00000546530.1																			0				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						c.(2215-2217)Cgg>Tgg		RAS protein activator like 1 (GAP1 like)							50	44	46					12																	113539707		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113539707G>A	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.2209C>T	12.37:g.113539707G>A	ENSP00000261729:p.Arg737Trp					RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W	p.R739W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			20	2500	-			737					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2215C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	g	19.80	3.895478	0.72639	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.47;-0.39;-0.48;-0.47	5.16	4.19	0.49359	.	0.196943	0.41712	D	0.000840	T	0.76521	0.3999	M	0.70275	2.135	0.30704	N	0.750018	D;D;D;D	0.71674	0.996;0.998;0.992;0.998	P;P;P;P	0.55824	0.721;0.785;0.614;0.702	T	0.76296	-0.3011	10	0.46703	T	0.11	.	10.0546	0.42237	0.0:0.0:0.6026:0.3974	.	738;739;737;709	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	W	739;737;709;738	ENSP00000450244:R739W;ENSP00000261729:R737W;ENSP00000395920:R709W;ENSP00000448510:R738W	ENSP00000261729:R737W	R	-	1	2	RASAL1	112024090	0.875000	0.30112	1.000000	0.80357	0.989000	0.77384	1.172000	0.31908	2.393000	0.81446	0.556000	0.70494	CGG		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		5	47	0	0	0	1	0	5	47					A	113539707	G	A	113539707	3	1	289	1	0	0	0	0	1	0	0	0	13063	1086	38	1	217	1	RASAL1	12	113539707	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	35138622	113539707	20312188	41	30315											
BRF1	2972	broad.mit.edu	37	chr14	105688184	105688184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcaggtggctggccgcGgcttccagctcctcgtcctc	12	15	1	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:105688184G>A	ENST00000546474.1	-	11	16075	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	BRF1_ENST00000392557.4_Silent_p.A168A|BRF1_ENST00000446501.2_Silent_p.A134A|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'Flank|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379937.2_Silent_p.A345A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	372					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCTGGCCGCGGCTTCCAGCT	0.637																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1114-1116)gcC>gcT		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							26	17	20					14																	105688184		2197	4291	6488	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105688184G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1116C>T	14.37:g.105688184G>A						BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000392557.4_Silent_p.A168A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Silent_p.A345A|BRF1_ENST00000446501.2_Silent_p.A134A	p.A372A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	11	16075	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	372					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.1116C>T	CCDS10001.1																																																																																				0.637	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		4	21	0	0	0	1	0	4	21					A	105688184	G	A	105688184	2	1	289	1	0	0	0	0	0	0	0	1	1510	1103	39	1		1	BRF1	14	105688184	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		105688184	1661356	42	30316											
C15orf2	23742	broad.mit.edu	37	chr15	24921092	24921092	+	Silent	SNP	T	T	A													ccagggcgtggcgcccccgcTcccctgtcccgggacgcctc							TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:24921092T>A	ENST00000329468.2	+	1	552	c.78T>A	c.(76-78)gcT>gcA	p.A26A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCGCCCCCGCTCCCCTGTCCC	0.701																																						ENST00000329468.2																			0											c.(76-78)gcT>gcA		nuclear pore associated protein 1							6	8	7					15																	24921092		1876	3767	5643	SO:0001819	synonymous_variant	23742							g.chr15:24921092T>A	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.78T>A	15.37:g.24921092T>A							p.A26A	NM_018958.2	NP_061831.2					1	552	+									Silent	SNP	ENST00000329468.2	37	c.78T>A	CCDS10015.1																																																																																				0.701	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	19	0	0	0	1	0	5	19					A	24921092	T	A	24921092	2	1	289	1	0	0	0	0	0	0	0	1	1784	1538	54	5		5	C15orf2	15	24921092	Silent	SNP	T	TCGA-HT-7882-01A-11D-2395-08		24921092	77610300	43	30317	140	2									
C15orf2	23742	broad.mit.edu	37	chr15	24921093	24921093	+	Missense_Mutation	SNP	C	C	A													cagggcgtggcgcccccgctCccctgtcccgggacgcctcc							TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:24921093C>A	ENST00000329468.2	+	1	553	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGCCCCCGCTCCCCTGTCCCG	0.701																																						ENST00000329468.2																			0											c.(79-81)Ccc>Acc		nuclear pore associated protein 1							6	8	7					15																	24921093		1890	3792	5682	SO:0001583	missense	23742							g.chr15:24921093C>A	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.79C>A	15.37:g.24921093C>A	ENSP00000333735:p.Pro27Thr						p.P27T	NM_018958.2	NP_061831.2					1	553	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.79C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.309	0.821747	0.16678	.	.	ENSG00000185823	ENST00000329468	T	0.07327	3.2	2.42	-1.94	0.07571	.	.	.	.	.	T	0.04363	0.0120	L	0.29908	0.895	0.09310	N	1	P	0.35821	0.523	B	0.29598	0.104	T	0.44034	-0.9354	9	0.16420	T	0.52	.	6.1182	0.20137	0.0:0.5342:0.0:0.4658	.	27	Q9NZP6	CO002_HUMAN	T	27	ENSP00000333735:P27T	ENSP00000333735:P27T	P	+	1	0	C15orf2	22472186	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.137000	0.01304	-0.411000	0.07530	0.484000	0.47621	CCC		0.701	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	18	1	0	0.0215528	1	0.0218327	6	18					A	24921093	C	A	24921093	3	1	289	1	0	0	0	0	1	0	0	0	1784	855	30	4	81	4	C15orf2	15	24921093	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	1	24921093	77610299	44	30318	140	2									
ATP10A	57194	broad.mit.edu	37	chr15	25959052	25959052	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtaggctctggccgcatAcaccagtgcggcctcatccg	12	14	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:25959052A>G	ENST00000356865.6	-	10	2224	c.2113T>C	c.(2113-2115)Tat>Cat	p.Y705H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	705					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)		CTGGCCGCATACACCAGTGCG	0.662																																						ENST00000356865.6																			0				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						c.(2113-2115)Tat>Cat		ATPase, class V, type 10A							52	50	51					15																	25959052		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959052A>G	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.2113T>C	15.37:g.25959052A>G	ENSP00000349325:p.Tyr705His						p.Y705H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2224	-		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)	705					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2113T>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	5.242	0.230190	0.09969	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	4.5	0.85	0.18980	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.180613	0.50627	N	0.000116	T	0.45955	0.1368	N	0.26042	0.785	0.43771	D	0.996293	B	0.11235	0.004	B	0.13407	0.009	T	0.14671	-1.0464	10	0.14656	T	0.56	-11.4232	8.2853	0.31924	0.7618:0.0:0.2382:0.0	.	705	O60312	AT10A_HUMAN	H	705	ENSP00000349325:Y705H	ENSP00000349325:Y705H	Y	-	1	0	ATP10A	23510145	1.000000	0.71417	0.380000	0.26093	0.240000	0.25518	5.014000	0.64029	0.215000	0.20761	0.459000	0.35465	TAT		0.662	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		21	86	0	0	0	1	0	21	86					G	25959052	A	G	25959052	3	3	289	1	0	0	0	0	1	0	0	0	1116	391	14	3	2434	3	ATP10A	15	25959052	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	1037959	25959052	76572340	45	30319											
HS3ST6	64711	broad.mit.edu	37	chr16	1962006	1962006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcggaaggccagggcgCggaagctgggcaggcccggg	22	11	0	0	rs534111598	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr16:1962006C>T	ENST00000293937.3	-	2	613	c.614G>A	c.(613-615)cGc>cAc	p.R205H	HS3ST6_ENST00000454677.2_Missense_Mutation_p.R222H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	205					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 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGCCAGGGCGCGGAAGCTGGG	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13153	0.0		0.0	False		,,,				2504	0.001					ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(664-666)cGc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 6							14	19	17					16																	1962006		2174	4281	6455	SO:0001583	missense	64711							g.chr16:1962006C>T			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.614G>A	16.37:g.1962006C>T	ENSP00000293937:p.Arg205His					HS3ST6_ENST00000293937.3_Missense_Mutation_p.R205H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H	p.R222H			C9JH64	C9JH64_HUMAN			2	730	-			174					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.665G>A		.	.	.	.	.	.	.	.	.	.	C	10.31	1.315208	0.23908	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	D;D	0.82255	-1.59;-1.59	4.84	1.4	0.22301	Sulfotransferase domain (1);	0.312565	0.34986	N	0.003539	T	0.61862	0.2381	N	0.04705	-0.18	0.33852	D	0.632808	B	0.06786	0.001	B	0.13407	0.009	T	0.59742	-0.7397	10	0.72032	D	0.01	.	5.4069	0.16326	0.0:0.4231:0.0:0.5769	.	205	Q96QI5	HS3S6_HUMAN	H	205;174;244	ENSP00000293937:R205H;ENSP00000390354:R174H	ENSP00000293937:R205H	R	-	2	0	HS3ST6	1902007	0.940000	0.31905	0.615000	0.29064	0.741000	0.42261	1.677000	0.37576	0.490000	0.27771	-0.304000	0.09214	CGC		0.716	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		9	42	0	0	0	1	0	9	42					T	1962006	C	T	1962006	3	4	289	1	0	0	0	0	1	0	0	0	7369	768	27	1	418	1	HS3ST6	16	1962006	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1962006	88392747	46	30320											
ZZEF1	23140	broad.mit.edu	37	chr17	3937518	3937518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcattcaggtggcctgcGtttgagatgacaacctgaaa	11	8	2	3	rs35511240	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:3937518G>A	ENST00000381638.2	-	40	6499	c.6375C>T	c.(6373-6375)aaC>aaT	p.N2125N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2125							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTGGCCTGCGTTTGAGATGA	0.527													G|||	7	0.00139776	0.0008	0.0014	5008	,	,		20378	0.0		0.003	False		,,,				2504	0.002					ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6373-6375)aaC>aaT		zinc finger, ZZ-type with EF-hand domain 1		G		4,4402	8.1+/-20.4	0,4,2199	101	88	92		6375	-8.9	0.3	17	dbSNP_126	92	80,8520	46.7+/-105.8	1,78,4221	no	coding-synonymous	ZZEF1	NM_015113.3		1,82,6420	AA,AG,GG		0.9302,0.0908,0.6459		2125/2962	3937518	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3937518G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6375C>T	17.37:g.3937518G>A							p.N2125N	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			40	6499	-			2125					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.6375C>T	CCDS11043.1																																																																																				0.527	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	72	0	0	0	1	0	6	72					A	3937518	G	A	3937518	2	1	289	1	0	0	0	0	0	0	0	1	18252	1136	40	1		1	ZZEF1	17	3937518	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		3937518	77257692	47	30321											
FBXW10	10517	broad.mit.edu	37	chr17	18675863	18675866	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													gaaaatagtctcatggaaatTctctctaagtgtaatattca					rs377314029		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:18675863_18675866delTCTC	ENST00000395665.4	+	12	2366_2369	c.2145_2148delTCTC	c.(2143-2148)attctcfs	p.IL715fs	FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000308799.4_Frame_Shift_Del_p.IL744fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	715										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCATGGAAATTCTCTCTAAGTGTA	0.417																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2230-2235)atfs		F-box and WD repeat domain containing 10																																				SO:0001589	frameshift_variant	10517							g.chr17:18675863_18675866delTCTC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2145_2148delTCTC	17.37:g.18675863_18675866delTCTC	ENSP00000379025:p.Ile715fs					FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs	p.IL744fs			Q5XX13	FBW10_HUMAN			11	2451_2454	+			715					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Frame_Shift_Del	DEL	ENST00000395665.4	37	c.2232_2235delTCTC	CCDS11199.3																																																																																				0.417	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		28	170						28	170	---	---	---	---	-	18675866	TCTC	-	18675863	7	5	289	1	0	1	0	1	0	0	0	0	5763	1771	62	0	2191	0	FBXW10	17	18675863	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7882-01A-11D-2395-08	14738345	18675863	62519347	48	30322											
LPO	4025	broad.mit.edu	37	chr17	56343663	56343663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgccatcaacacacagCgttgccgggaccatgggcaa	12	13	1	0	rs200102644		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:56343663C>T	ENST00000262290.4	+	11	1985	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	LPO_ENST00000543544.1_Missense_Mutation_p.R498C|LPO_ENST00000421678.2_Missense_Mutation_p.R474C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	557					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						CAACACACAGCGTTGCCGGGA	0.502																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1669-1671)Cgt>Tgt		lactoperoxidase							52	47	49					17																	56343663		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343663C>T	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.1669C>T	17.37:g.56343663C>T	ENSP00000262290:p.Arg557Cys					LPO_ENST00000543544.1_Missense_Mutation_p.R498C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C|LPO_ENST00000421678.2_Missense_Mutation_p.R474C	p.R557C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1985	+			557					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1669C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023920	0.75390	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	D;D;D	0.84516	-1.86;-1.86;-1.86	5.82	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97039	0.9756	10	0.87932	D	0	-22.8419	16.7827	0.85567	0.1373:0.8627:0.0:0.0	.	474;557	E7EMJ3;P22079	.;PERL_HUMAN	C	557;474;498;302	ENSP00000262290:R557C;ENSP00000400245:R474C;ENSP00000445344:R498C	ENSP00000262290:R557C	R	+	1	0	LPO	53698662	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.979000	0.49313	2.756000	0.94617	0.655000	0.94253	CGT		0.502	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			7	53	0	0	0	1	0	7	53					T	56343663	C	T	56343663	3	4	289	1	0	0	0	0	1	0	0	0	8922	768	27	1	1707	1	LPO	17	56343663	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	37667800	56343663	24851547	49	30323											
EVPL	2125	broad.mit.edu	37	chr17	74003773	74003775	+	In_Frame_Del	DEL	TTG	TTG	-													cggccgtcttgatgctgcacTtgttgtctgtggttgtgtca							TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:74003773_74003775delTTG	ENST00000301607.3	-	22	5764_5766	c.5511_5513delCAA	c.(5509-5514)aacaag>aag	p.N1837del	EVPL_ENST00000586740.1_In_Frame_Del_p.N1859del|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1837	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GATGCTGCACTTGTTGTCTGTGG	0.611																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5509-5514)aag>aa		envoplakin				0,4264		0,0,2132						0.8	1			141	1,8253		0,1,4126	no	coding	EVPL	NM_001988.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003773_74003775delTTG	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5511_5513delCAA	17.37:g.74003776_74003778delTTG	ENSP00000301607:p.Asn1837del					EVPL_ENST00000586740.1_In_Frame_Del_p.NK1859del	p.NK1837del	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5764_5766	-			1837			Globular 2.		A0AUV5	In_Frame_Del	DEL	ENST00000301607.3	37	c.5511_5513delCAA	CCDS11737.1																																																																																				0.611	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		29	215						29	215	---	---	---	---	-	74003775	TTG	-	74003773	7	5	289	1	0	1	0	1	0	0	0	0	5292	1609	56	0	592	0	EVPL	17	74003773	In_Frame_Del	DEL	TTG	TCGA-HT-7882-01A-11D-2395-08	17660110	74003773	7191437	50	30324											
DSC3	1825	broad.mit.edu	37	chr18	28581601	28581601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccactctatcgtctccagGtgcttctgtgtttgatataa	7	10	3	1	rs114935867	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr18:28581601G>A	ENST00000360428.4	-	14	2298	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	DSC3_ENST00000434452.1_Missense_Mutation_p.P740S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	740					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCGTCTCCAGGTGCTTCTGTG	0.308													G|||	6	0.00119808	0.0	0.0043	5008	,	,		13667	0.0		0.003	False		,,,				2504	0.0					ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2218-2220)Cct>Tct		desmocollin 3		G	SER/PRO,SER/PRO	4,4402	8.1+/-20.4	0,4,2199	87	90	89		2218,2218	4.5	1	18	dbSNP_132	89	32,8564	22.8+/-68.1	0,32,4266	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	74,74	0,36,6465	AA,AG,GG		0.3723,0.0908,0.2769	probably-damaging,probably-damaging	740/897,740/840	28581601	36,12966	2203	4298	6501	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28581601G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2218C>T	18.37:g.28581601G>A	ENSP00000353608:p.Pro740Ser					DSC3_ENST00000360428.4_Missense_Mutation_p.P740S	p.P740S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		14	2372	-			740					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2218C>T	CCDS32810.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	G	12.32	1.903980	0.33628	9.08E-4	0.003723	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.57436	0.4;0.42	4.48	4.48	0.54585	.	0.000000	0.32935	N	0.005475	T	0.70081	0.3183	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.78861	-0.2037	10	0.59425	D	0.04	.	17.3066	0.87197	0.0:0.0:1.0:0.0	.	740;740	Q14574;Q14574-2	DSC3_HUMAN;.	S	740	ENSP00000353608:P740S;ENSP00000392068:P740S	ENSP00000353608:P740S	P	-	1	0	DSC3	26835599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.271000	0.72569	2.479000	0.83701	0.557000	0.71058	CCT		0.308	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		5	65	0	0	0	1	0	5	65					A	28581601	G	A	28581601	3	1	289	1	0	0	0	0	1	0	0	0	4767	1261	44	2	515	2	DSC3	18	28581601	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		28581601	49495647	51	30325											
MAP1S	55201	broad.mit.edu	37	chr19	17845112	17845112	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccccactttcgactcggtgGccatgcatacgtggtacgca	10	14	0	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:17845112G>C	ENST00000324096.4	+	7	3206	c.3055G>C	c.(3055-3057)Gcc>Ccc	p.A1019P	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1019	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGACTCGGTGGCCATGCATAC	0.657																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(3055-3057)Gcc>Ccc		microtubule-associated protein 1S							99	70	80					19																	17845112		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17845112G>C	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.3055G>C	19.37:g.17845112G>C	ENSP00000325313:p.Ala1019Pro					CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P	p.A1019P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			7	3206	+			1019			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.3055G>C	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.240137	0.22711	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18338	2.22;2.22	4.59	3.55	0.40652	.	0.294585	0.24242	N	0.040250	T	0.12860	0.0312	L	0.29908	0.895	0.23533	N	0.997471	B;B	0.29341	0.242;0.093	B;B	0.27170	0.077;0.054	T	0.18053	-1.0349	10	0.66056	D	0.02	-23.0477	10.6107	0.45421	0.0969:0.0:0.9031:0.0	.	993;1019	B4DH53;Q66K74	.;MAP1S_HUMAN	P	1019;993	ENSP00000325313:A1019P;ENSP00000439243:A993P	ENSP00000325313:A1019P	A	+	1	0	MAP1S	17706112	1.000000	0.71417	0.099000	0.21106	0.131000	0.20780	4.448000	0.60027	1.045000	0.40225	0.561000	0.74099	GCC		0.657	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		6	56	0	0	0	1	0	6	56					C	17845112	G	C	17845112	3	2	289	1	0	0	0	0	1	0	0	0	9234	1203	42	4	3081	4	MAP1S	19	17845112	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		17845112	41283871	52	30326											
ZNF536	9745	broad.mit.edu	37	chr19	31040081	31040081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagaggatgttgaaacCgaaccggaaatgatgaccaa	12	6	0	5	rs373198343		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:31040081C>T	ENST00000355537.3	+	4	3702	c.3555C>T	c.(3553-3555)acC>acT	p.T1185T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1185					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)					ATGTTGAAACCGAACCGGAAA	0.572																																						ENST00000355537.3																			0				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						c.(3553-3555)acC>acT		zinc finger protein 536		C		0,4406		0,0,2203	66	67	66		3555	-11.2	0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1185/1301	31040081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040081C>T		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.3555C>T	19.37:g.31040081C>T							p.T1185T	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3702	+	Esophageal squamous(110;0.0834)		1185					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3555C>T	CCDS32984.1																																																																																				0.572	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	70	0	0	0	1	0	8	70					T	31040081	C	T	31040081	2	4	289	1	0	0	0	0	0	0	0	1	17971	639	23	1		1	ZNF536	19	31040081	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	13194969	31040081	28088902	53	30327											
LILRB2	10288	broad.mit.edu	37	chr19	54783825	54783825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttttctccctatatagaCggtactcctgggcttcaagg	8	10	2	1	rs141797988		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54783825C>T	ENST00000391749.4	-	4	447	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391748.1_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	59	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTATATAGACGGTACTCCTG	0.547																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(175-177)cGt>cAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2		T	HIS/ARG,HIS/ARG	0,4406		0,0,2203	192	188	189		176,176	-4.8	0	19	dbSNP_134	189	4,8596	819.1+/-406.8	0,4,4296	yes	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	59/598,59/599	54783825	4,13002	2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783825C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.176G>A	19.37:g.54783825C>T	ENSP00000375629:p.Arg59His					LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.R59H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H|LILRB2_ENST00000434421.1_Intron	p.R59H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	303	-	Ovarian(34;0.19)		59			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.176G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.771308	0.00645	0.0	4.65E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.41	-4.83	0.03161	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.899010	0.00927	N	0.002675	T	0.06142	0.0159	N	0.12422	0.21	0.09310	N	1	B;B;B	0.23937	0.094;0.025;0.022	B;B;B	0.19391	0.025;0.025;0.007	T	0.35724	-0.9777	10	0.02654	T	1	.	4.8189	0.13381	0.3445:0.4077:0.0:0.2478	.	59;76;59	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	59	ENSP00000375628:R59H;ENSP00000319960:R59H;ENSP00000375629:R59H;ENSP00000375626:R59H	ENSP00000319960:R59H	R	-	2	0	LILRB2	59475637	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-7.069000	0.00045	-4.623000	0.00039	-2.181000	0.00316	CGT		0.547	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			24	178	0	0	0	1	0	24	178					T	54783825	C	T	54783825	3	4	289	1	0	0	0	0	1	0	0	0	8791	536	19	1	1664	1	LILRB2	19	54783825	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	23743744	54783825	4345158	54	30328											
LILRA3	11026	broad.mit.edu	37	chr19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgggctcacggggcccaCggagaagatggcccgggatg	17	11	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54803127C>T	ENST00000251390.3	-	4	641	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRA3_ENST00000391745.1_Missense_Mutation_p.V201M|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	184	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567																																						ENST00000391745.1																			1	Substitution - Missense(1)	p.V184M(1)	upper_aerodigestive_tract(1)	NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(601-603)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							130	110	117					19																	54803127		2195	4163	6358	SO:0001583	missense	0							g.chr19:54803127C>T	U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.550G>A	19.37:g.54803127C>T	ENSP00000251390:p.Val184Met					LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M	p.V201M						GBM - Glioblastoma multiforme(193;0.105)	8	917	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.601G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713240	0.30413	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00792	5.69;5.69	2.21	0.0188	0.14118	Immunoglobulin-like fold (1);	0.499376	0.16837	N	0.197508	T	0.01189	0.0039	L	0.39514	1.22	0.09310	N	1	D	0.65815	0.995	P	0.53518	0.728	T	0.52866	-0.8518	10	0.48119	T	0.1	.	4.2498	0.10689	0.0:0.6373:0.0:0.3627	.	184	Q8N6C8	LIRA3_HUMAN	M	184;201	ENSP00000251390:V184M;ENSP00000375625:V201M	ENSP00000251390:V184M	V	-	1	0	LILRA3	59494939	0.007000	0.16637	0.028000	0.17463	0.014000	0.08584	0.231000	0.17872	0.085000	0.17107	-0.236000	0.12185	GTG		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			23	177	0	0	0	1	0	23	177					T	54803127	C	T	54803127	3	4	289	1	0	0	0	0	1	0	0	0	8786	536	19	1	785	1	LILRA3	19	54803127	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	19302	54803127	4325856	55	30329											
XKR7	343702	broad.mit.edu	37	chr20	30584347	30584347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtgtctctggcctggaCgctggcctcctaccagaagg	12	15	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30584347C>T	ENST00000562532.2	+	3	1001	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	276						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTGGACGCTGGCCTCC	0.701																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(826-828)aCg>aTg		XK, Kell blood group complex subunit-related family, member 7							19	18	18					20																	30584347		2200	4298	6498	SO:0001583	missense	343702					integral to membrane		g.chr20:30584347C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.827C>T	20.37:g.30584347C>T	ENSP00000477059:p.Thr276Met						p.T276M	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1001	+			276					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.827C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	c	11.94	1.789412	0.31685	.	.	ENSG00000101321	ENST00000217299	T	0.63417	-0.04	5.04	3.99	0.46301	.	0.084536	0.85682	D	0.000000	T	0.19967	0.0480	N	0.00538	-1.39	0.36704	D	0.88025	B	0.31241	0.315	B	0.15870	0.014	T	0.17561	-1.0365	10	0.25106	T	0.35	.	3.6615	0.08240	0.0:0.6523:0.0:0.3477	.	276	Q5GH72	XKR7_HUMAN	M	276	ENSP00000217299:T276M	ENSP00000217299:T276M	T	+	2	0	XKR7	30048008	1.000000	0.71417	0.982000	0.44146	0.960000	0.62799	3.459000	0.53021	2.350000	0.79820	0.556000	0.70494	ACG		0.701	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		6	35	0	0	0	1	0	6	35					T	30584347	C	T	30584347	3	4	289	1	0	0	0	0	1	0	0	0	17433	536	19	1	837	1	XKR7	20	30584347	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		30584347	32441173	56	30330											
HCK	3055	broad.mit.edu	37	chr20	30667667	30667667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcatgatccgggatagCgagaccactaaaggtgacac	10	11	1	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30667667C>T	ENST00000520553.1	+	6	702	c.456C>T	c.(454-456)agC>agT	p.S152S	HCK_ENST00000534862.1_Silent_p.S153S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000375852.2_Silent_p.S173S|HCK_ENST00000375862.2_Silent_p.S172S	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	173	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	TCCGGGATAGCGAGACCACTA	0.612																																						ENST00000534862.1																			0				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						c.(457-459)agC>agT		hemopoietic cell kinase							46	41	43					20																	30667667		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30667667C>T	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.456C>T	20.37:g.30667667C>T						HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000375862.2_Silent_p.S172S|HCK_ENST00000375852.2_Silent_p.S173S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000520553.1_Silent_p.S152S	p.S153S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	822	+			173			SH2.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.459C>T	CCDS54455.1																																																																																				0.612	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			4	25	0	0	0	1	0	4	25					T	30667667	C	T	30667667	2	4	289	1	0	0	0	0	0	0	0	1	6994	767	27	1		1	HCK	20	30667667	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	83320	30667667	32357853	57	30331											
AKAP4	8852	broad.mit.edu	37	chrX	49958224	49958224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaagaatcaatcaaatcGgacacaatctccttggtgtg	8	9	3	1	rs140947270		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:49958224G>A	ENST00000376056.2	-	5	1263	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	AKAP4_ENST00000376064.3_Silent_p.S371S|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.S380S|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4									p.S380S(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CAATCAAATCGGACACAATCT	0.463																																						ENST00000376056.2																			2	Substitution - coding silent(2)	p.S380S(2)	large_intestine(1)|endometrium(1)	NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1111-1113)tcC>tcT		A kinase (PRKA) anchor protein 4		G	,	2,3833		0,1,1,1631,570	70	59	63		1140,1113	-6.4	1	X	dbSNP_134	63	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	AKAP4	NM_003886.2,NM_139289.1	,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	,	380/855,371/846	49958224	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958224G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1113C>T	X.37:g.49958224G>A						AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.S380S|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.S371S	p.S371S			Q5JQC9	AKAP4_HUMAN			5	1263	-	Ovarian(276;0.236)		380						Silent	SNP	ENST00000376056.2	37	c.1113C>T	CCDS14330.1																																																																																				0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		7	20	0	0	0	1	0	7	20					A	49958224	G	A	49958224	2	1	289	1	0	0	0	0	0	0	0	1	453	1103	39	1		1	AKAP4	23	49958224	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49958224	105312336	58	30332											
PCDH11X	27328	broad.mit.edu	37	chrX	91133911	91133911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcactattgaagaaaCtaaggcagatgatgttgaca	9	5	1	5			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:91133911C>A	ENST00000373094.1	+	2	3517	c.2672C>A	c.(2671-2673)aCt>aAt	p.T891N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	891					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						ATTGAAGAAACTAAGGCAGAT	0.373																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				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						c.(2671-2673)aCt>aAt		protocadherin 11 X-linked							105	96	99					X																	91133911		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133911C>A	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.2672C>A	X.37:g.91133911C>A	ENSP00000362186:p.Thr891Asn					PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N	p.T891N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3517	+			891					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2672C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.943	0.966375	0.18659	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.16	4.27	0.50696	Protocadherin (1);	0.294842	0.38164	N	0.001800	T	0.23806	0.0576	N	0.25647	0.755	0.27636	N	0.947869	B;B;B;B;B;B;B;B	0.14805	0.009;0.009;0.009;0.009;0.009;0.011;0.009;0.009	B;B;B;B;B;B;B;B	0.19666	0.008;0.008;0.015;0.015;0.015;0.026;0.008;0.008	T	0.15925	-1.0420	10	0.52906	T	0.07	.	12.9561	0.58427	0.1629:0.8371:0.0:0.0	.	891;891;891;891;891;891;891;891	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	891	ENSP00000378746:T891N;ENSP00000362186:T891N;ENSP00000362189:T891N;ENSP00000355040:T891N;ENSP00000362180:T891N;ENSP00000423762:T891N;ENSP00000355105:T891N;ENSP00000384758:T891N;ENSP00000298274:T891N	ENSP00000298274:T891N	T	+	2	0	PCDH11X	91020567	1.000000	0.71417	0.137000	0.22149	0.894000	0.52154	4.415000	0.59809	0.893000	0.36288	0.600000	0.82982	ACT		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		15	44	1	0	4.29497e-23	1	4.65288e-23	15	44					A	91133911	C	A	91133911	3	1	289	1	0	0	0	0	1	0	0	0	11508	565	20	4	2678	4	PCDH11X	23	91133911	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41175687	91133911	64136649	59	30333											
PANK4	55229	broad.mit.edu	37	chr1	2444388	2444388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggcctttcaccagcgCcagctgccgttcctcccagc	10	18	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:2444388C>T	ENST00000378466.3	-	13	1678	c.1666G>A	c.(1666-1668)Gcg>Acg	p.A556T	PANK4_ENST00000435556.3_Missense_Mutation_p.A517T	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	556					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTCACCAGCGCCAGCTGCCGT	0.682																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(1666-1668)Gcg>Acg		pantothenate kinase 4							66	75	72					1																	2444388		2202	4298	6500	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2444388C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1666G>A	1.37:g.2444388C>T	ENSP00000367727:p.Ala556Thr					PANK4_ENST00000435556.3_Missense_Mutation_p.A517T	p.A556T	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	13	1678	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	556					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.1666G>A	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380862	0.82792	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06218	3.33;3.33	5.33	5.33	0.75918	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	L	0.52206	1.635	0.80722	D	1	P;P	0.39326	0.668;0.668	B;B	0.42245	0.381;0.381	T	0.21381	-1.0247	10	0.23302	T	0.38	-40.1448	17.9869	0.89158	0.0:1.0:0.0:0.0	.	517;556	E9PHT6;Q9NVE7	.;PANK4_HUMAN	T	556;517	ENSP00000367727:A556T;ENSP00000421433:A517T	ENSP00000367727:A556T	A	-	1	0	PANK4	2434248	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.321000	0.79088	2.485000	0.83878	0.561000	0.74099	GCG		0.682	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			6	137	0	0	0	1	0	6	137					T	2444388	C	T	2444388	3	4	290	1	0	0	0	0	1	0	0	0	11419	739	26	2	683	2	PANK4	1	2444388	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		2444388	246806233	1	30334											
AHDC1	27245	broad.mit.edu	37	chr1	27875777	27875777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgggccatggctgagggCgggggcaccagcttggggaa	21	9	0	1	rs151218177		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:27875777C>T	ENST00000247087.5	-	5	3446	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	AHDC1_ENST00000374011.2_Silent_p.P950P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	950							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)		TGGCTGAGGGCGGGGGCACCA	0.672																																						ENST00000374011.2																			0				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						c.(2848-2850)ccG>ccA		AT hook, DNA binding motif, containing 1		C		1,4405	2.1+/-5.4	0,1,2202	48	58	54		2850	-10.5	0	1	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	AHDC1	NM_001029882.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		950/1604	27875777	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27875777C>T	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.2850G>A	1.37:g.27875777C>T						AHDC1_ENST00000247087.5_Silent_p.P950P|AHDC1_ENST00000482400.2_Intron	p.P950P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		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)	6	3818	-		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)	950					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.2850G>A	CCDS30652.1																																																																																				0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			55	61	0	0	0	1	0	55	61					T	27875777	C	T	27875777	2	4	290	1	0	0	0	0	0	0	0	1	412	755	27	1		1	AHDC1	1	27875777	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	25431389	27875777	221374844	2	30335											
YIPF1	54432	broad.mit.edu	37	chr1	54331952	54331952	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacgcgtcggttatcctcaCgaacagctggccaaaatgtc	9	13	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:54331952C>G	ENST00000072644.1	-	9	1088	c.752G>C	c.(751-753)cGt>cCt	p.R251P	YIPF1_ENST00000371399.1_Missense_Mutation_p.R68P|YIPF1_ENST00000539954.1_Missense_Mutation_p.R276P|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	251						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.R251H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483																																						ENST00000072644.1																			1	Substitution - Missense(1)	p.R251H(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						c.(751-753)cGt>cCt		Yip1 domain family, member 1							103	88	93					1																	54331952		2203	4300	6503	SO:0001583	missense	54432					integral to membrane|transport vesicle		g.chr1:54331952C>G	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"Yip1 domain family"	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.752G>C	1.37:g.54331952C>G	ENSP00000072644:p.Arg251Pro					YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_Missense_Mutation_p.R68P|YIPF1_ENST00000539954.1_Missense_Mutation_p.R276P	p.R251P	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN			9	1088	-			251					B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	c.752G>C	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553366	0.86127	.	.	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83682	0.0172	9	0.56958	D	0.05	-28.9557	19.7096	0.96089	0.0:1.0:0.0:0.0	.	251	Q9Y548	YIPF1_HUMAN	P	68;251;276	.	ENSP00000072644:R251P	R	-	2	0	YIPF1	54104540	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	7.636000	0.83301	2.652000	0.90054	0.655000	0.94253	CGT		0.483	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		44	64	0	0	0	1	0	44	64					G	54331952	C	G	54331952	3	3	290	1	0	0	0	0	1	0	0	0	17474	536	19	4	176	4	YIPF1	1	54331952	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	26456175	54331952	194918669	3	30336											
REG1A	5967	broad.mit.edu	37	chr2	79348733	79348733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcccggatcagctgccCagaaggcaccaatgcctatc	10	16	1	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:79348733C>T	ENST00000233735.1	+	3	213	c.110C>T	c.(109-111)cCa>cTa	p.P37L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCAGCTGCCCAGAAGGCACC	0.527																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(109-111)cCa>cTa		regenerating islet-derived 1 alpha							177	180	179					2																	79348733		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348733C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.110C>T	2.37:g.79348733C>T	ENSP00000233735:p.Pro37Leu						p.P37L	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			3	213	+			37			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.110C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.980120	0.74474	.	.	ENSG00000115386	ENST00000233735	T	0.12255	2.7	2.85	1.96	0.26148	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.38778	N	0.001568	T	0.36413	0.0966	M	0.88310	2.945	0.23082	N	0.998321	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.08617	-1.0713	10	0.87932	D	0	.	5.6612	0.17670	0.0:0.8448:0.0:0.1552	.	37;37	A8K7G6;P05451	.;REG1A_HUMAN	L	37	ENSP00000233735:P37L	ENSP00000233735:P37L	P	+	2	0	REG1A	79202241	0.084000	0.21492	0.211000	0.23655	0.897000	0.52465	1.630000	0.37081	0.750000	0.32877	0.563000	0.77884	CCA		0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		62	272	0	0	0	1	0	62	272					T	79348733	C	T	79348733	3	4	290	1	0	0	0	0	1	0	0	0	13210	594	21	2	116	2	REG1A	2	79348733	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		79348733	163850640	4	30337											
RND3	390	broad.mit.edu	37	chr2	151328168	151328168	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggacactggcgtctgcctGtgattggagagctctactaa	12	9	2	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:151328168G>A	ENST00000375734.2	-	4	705	c.456C>T	c.(454-456)caC>caT	p.H152H	RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_Silent_p.H23H|RND3_ENST00000263895.4_Silent_p.H152H	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	152					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCGTCTGCCTGTGATTGGAGA	0.418																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(454-456)caC>caT		Rho family GTPase 3							111	106	108					2																	151328168		2203	4300	6503	SO:0001819	synonymous_variant	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151328168G>A		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"ras homolog gene family, member E"	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.456C>T	2.37:g.151328168G>A						RND3_ENST00000409557.1_Silent_p.H23H|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Silent_p.H152H	p.H152H	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	4	705	-			152					D3DP95|P52199	Silent	SNP	ENST00000375734.2	37	c.456C>T	CCDS2190.1																																																																																				0.418	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		5	114	0	0	0	1	0	5	114					A	151328168	G	A	151328168	2	1	290	1	0	0	0	0	0	0	0	1	13421	1368	48	2		2	RND3	2	151328168	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	71979435	151328168	91871205	5	30338											
SCN2A	6326	broad.mit.edu	37	chr2	166179921	166179921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgcccatgaatgggAagatgcatagcgctgtggac	12	11	0	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:166179921A>G	ENST00000375437.2	+	12	2217	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SCN2A_ENST00000283256.6_Missense_Mutation_p.K643E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K643E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K643E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	643					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)	CATGAATGGGAAGATGCATAG	0.617																																						ENST00000375437.2																			0				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						c.(1927-1929)Aag>Gag		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						54	48	50					2																	166179921		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166179921A>G	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.1927A>G	2.37:g.166179921A>G	ENSP00000364586:p.Lys643Glu					SCN2A_ENST00000357398.3_Missense_Mutation_p.K643E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K643E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K643E	p.K643E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			12	2217	+			643					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1927A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523906	0.85600	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.557474	0.18199	N	0.148598	D	0.96549	0.8874	M	0.86864	2.845	0.46609	D	0.999129	B;D	0.76494	0.162;0.999	B;D	0.87578	0.071;0.998	D	0.96926	0.9677	10	0.72032	D	0.01	.	15.8587	0.79005	1.0:0.0:0.0:0.0	.	643;643	Q99250-2;Q99250	.;SCN2A_HUMAN	E	643	ENSP00000364586:K643E;ENSP00000349973:K643E;ENSP00000283256:K643E;ENSP00000364576:K643E	ENSP00000283256:K643E	K	+	1	0	SCN2A	165888167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.401000	0.79962	2.153000	0.67306	0.519000	0.50382	AAG		0.617	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		6	46	0	0	0	1	0	6	46					G	166179921	A	G	166179921	3	3	290	1	0	0	0	0	1	0	0	0	13916	247	9	3	2065	3	SCN2A	2	166179921	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	14851753	166179921	77019452	6	30339											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			45	58	0	0	0	1	0	45	58					T	209113112	C	T	209113112	3	4	290	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	42933191	209113112	34086261	7	30340											
STXBP5L	9515	broad.mit.edu	37	chr3	120628568	120628569	+	In_Frame_Ins	INS	-	-	CGC													actgcaggggttctcagagaINSggaaattcaggaaactttga							TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:120628568_120628569insCGC	ENST00000273666.6	+	2	414_415	c.143_144insCGC	c.(142-147)gaggaa>gaCGCggaa	p.48_48E>DA	STXBP5L_ENST00000497029.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000472879.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000471454.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000492541.1_In_Frame_Ins_p.48_48E>DA	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	48					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTCAGAGAGGAAATTCAGG	0.48																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(142-144)gga>gCGCga		syntaxin binding protein 5-like																																				SO:0001652	inframe_insertion	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120628568_120628569insCGC	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	Exception_encountered	3.37:g.120628568_120628569insCGC	ENSP00000273666:p.Glu48delinsAspAla					STXBP5L_ENST00000471454.1_In_Frame_Ins_p.48_48G>AR|STXBP5L_ENST00000472879.1_In_Frame_Ins_p.48_48G>AR|STXBP5L_ENST00000497029.1_In_Frame_Ins_p.48_48G>AR|STXBP5L_ENST00000492541.1_In_Frame_Ins_p.48_48G>AR	p.48_48G>AR	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	2	414_415	+			48					Q4G1B4|Q6PIC3	In_Frame_Ins	INS	ENST00000273666.6	37	c.143_144insCGC	CCDS43137.1																																																																																				0.48	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	30						17	30	---	---	---	---	CGC	120628569	-	CGC	120628568	7	5	290	1	0	1	1	0	0	0	0	0	15356	304	11	0	145	0	STXBP5L	3	120628568	In_Frame_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08		120628568	77393862	8	30341											
PLCH1	23007	broad.mit.edu	37	chr3	155215187	155215187	+	Frame_Shift_Del	DEL	T	T	-													ttctcggcagagcttcatggTtttccttcggcgacccaatc							TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:155215187delT	ENST00000340059.7	-	14	1779	c.1780delA	c.(1780-1782)accfs	p.T594fs	PLCH1_ENST00000460012.1_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000447496.2_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.T594fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	594					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)			AGCTTCATGGTTTTCCTTCGG	0.468																																						ENST00000460012.1																			0				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						c.(1726-1728)ccfs		phospholipase C, eta 1							122	111	114					3																	155215187		2203	4300	6503	SO:0001589	frameshift_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155215187delT	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.1780delA	3.37:g.155215187delT	ENSP00000345988:p.Thr594fs					PLCH1_ENST00000334686.6_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000447496.2_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.T594fs	p.T576fs			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2083	-			594					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Del	DEL	ENST00000340059.7	37	c.1726delA	CCDS46939.1																																																																																				0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		56	82						56	82	---	---	---	---	-	155215187	T	-	155215187	7	5	290	1	0	1	0	1	0	0	0	0	12037	1725	60	0	3356	0	PLCH1	3	155215187	Frame_Shift_Del	DEL	T	TCGA-HT-7884-01B-11D-2395-08	34586619	155215187	42807243	9	30342											
PDHA2	5161	broad.mit.edu	37	chr4	96761529	96761529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcatggaattgaaggcAgatcagctgtacaaacagaa	11	9	1	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:96761529A>G	ENST00000295266.4	+	1	291	c.228A>G	c.(226-228)gcA>gcG	p.A76A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	76					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATTGAAGGCAGATCAGCTGT	0.537																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(226-228)gcA>gcG		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						106	91	96					4																	96761529		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761529A>G		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.228A>G	4.37:g.96761529A>G							p.A76A	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	291	+		Hepatocellular(203;0.114)	76					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.228A>G	CCDS3644.1																																																																																				0.537	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			6	133	0	0	0	1	0	6	133					G	96761529	A	G	96761529	2	3	290	1	0	0	0	0	0	0	0	1	11665	175	7	3		3	PDHA2	4	96761529	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08		96761529	94392747	10	30343											
NEUROG2	63973	broad.mit.edu	37	chr4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagggtctcggtgagtgcCcagatgtagttgtgggcgaa	17	8	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:113436146C>T	ENST00000313341.3	-	2	812	c.486G>A	c.(484-486)tgG>tgA	p.W162*	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	162	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(484-486)tgG>tgA		neurogenin 2							40	40	40					4																	113436146		2203	4300	6503	SO:0001587	stop_gained	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436146C>T	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.486G>A	4.37:g.113436146C>T	ENSP00000317333:p.Trp162*						p.W162*	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	812	-		Ovarian(17;0.156)	162			Helix-loop-helix motif.		Q8N416	Nonsense_Mutation	SNP	ENST00000313341.3	37	c.486G>A	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	C	38	6.969561	0.97971	.	.	ENSG00000178403	ENST00000313341	.	.	.	3.76	3.76	0.43208	.	0.000000	0.45126	D	0.000399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9758	13.1517	0.59492	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000317333:W162X	W	-	3	0	NEUROG2	113655595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.931000	0.55961	0.563000	0.77884	TGG		0.711	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		9	37	0	0	0	1	0	9	37					T	113436146	C	T	113436146	4	4	290	1	0	0	0	0	0	1	0	0	10353	624	22	2	336	2	NEUROG2	4	113436146	Nonsense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	16674617	113436146	77718130	11	30344											
PCDHB16	57717	broad.mit.edu	37	chr5	140563635	140563635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacccgcacctgcccctcGcctccctggtctccatcaac	7	21	2	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:140563635G>A	ENST00000361016.2	+	1	2656	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	501	Cadherin 5. {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)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.677																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1501-1503)Gcc>Acc									32	33	32					5																	140563635		2153	4194	6347	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563635G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1501G>A	5.37:g.140563635G>A	ENSP00000354293:p.Ala501Thr						p.A501T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2656	+			501			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1501G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	5.435	0.265471	0.10294	.	.	ENSG00000196963	ENST00000361016	T	0.01821	4.62	4.26	1.11	0.20524	Cadherin (4);Cadherin-like (1);	0.761933	0.10751	N	0.638316	T	0.01189	0.0039	N	0.05124	-0.11	0.09310	N	0.999999	B	0.15930	0.015	B	0.15870	0.014	T	0.47433	-0.9118	10	0.39692	T	0.17	.	8.7897	0.34843	0.0:0.1303:0.576:0.2937	.	501	Q9NRJ7	PCDBG_HUMAN	T	501	ENSP00000354293:A501T	ENSP00000354293:A501T	A	+	1	0	PCDHB16	140543819	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-0.289000	0.08365	0.788000	0.33755	-0.230000	0.12252	GCC		0.677	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		9	139	0	0	0	1	0	9	139					A	140563635	G	A	140563635	3	1	290	1	0	0	0	0	1	0	0	0	11541	1087	38	1	1503	1	PCDHB16	5	140563635	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		140563635	40351625	12	30345											
SPINK5	11005	broad.mit.edu	37	chr5	147484546	147484546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcaagagcaaaggctAaaagagaagctgcaaaggta	12	5	0	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:147484546A>G	ENST00000256084.7	+	16	1504	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E	SPINK5_ENST00000359874.3_Missense_Mutation_p.K488E|SPINK5_ENST00000398454.1_Missense_Mutation_p.K488E	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	488	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAGGCTAAAAGAGAAGC	0.328																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1462-1464)Aaa>Gaa		serine peptidase inhibitor, Kazal type 5							97	100	99					5																	147484546		1813	4088	5901	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147484546A>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1462A>G	5.37:g.147484546A>G	ENSP00000256084:p.Lys488Glu					SPINK5_ENST00000398454.1_Missense_Mutation_p.K488E|SPINK5_ENST00000256084.7_Missense_Mutation_p.K488E	p.K488E	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	1535	+			488			Kazal-like 7.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1462A>G	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.063112	0.55432	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.51817	0.71;0.69;0.82;0.69	3.91	3.91	0.45181	Proteinase inhibitor I1, Kazal (1);	0.000000	0.47093	D	0.000242	T	0.59074	0.2167	M	0.75447	2.3	0.26152	N	0.980126	D;D;D;P	0.76494	0.996;0.997;0.999;0.46	D;D;D;B	0.73708	0.972;0.953;0.981;0.279	T	0.53858	-0.8379	10	0.06236	T	0.91	-34.0529	9.4193	0.38541	1.0:0.0:0.0:0.0	.	469;488;488;488	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	E	488;488;469;488	ENSP00000381472:K488E;ENSP00000352936:K488E;ENSP00000421519:K469E;ENSP00000256084:K488E	ENSP00000256084:K488E	K	+	1	0	SPINK5	147464739	0.991000	0.36638	1.000000	0.80357	0.758000	0.43043	3.500000	0.53318	2.012000	0.59069	0.260000	0.18958	AAA		0.328	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		4	28	0	0	0	1	0	4	28					G	147484546	A	G	147484546	3	3	290	1	0	0	0	0	1	0	0	0	15061	363	13	3	1524	3	SPINK5	5	147484546	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	6920911	147484546	33430714	13	30346											
CLINT1	9685	broad.mit.edu	37	chr5	157240156	157240156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcgctcttcacgaagCctgtcgtcatcctgggcaaa	8	13	4	0	rs201156217		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:157240156C>G	ENST00000411809.2	-	5	636	c.432G>C	c.(430-432)agG>agC	p.R144S	CLINT1_ENST00000523908.1_Missense_Mutation_p.R144S|CLINT1_ENST00000523094.1_Missense_Mutation_p.R126S|CLINT1_ENST00000530742.1_Missense_Mutation_p.R126S|CLINT1_ENST00000296951.5_Missense_Mutation_p.R126S	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	144	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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)			CTTCACGAAGCCTGTCGTCAT	0.418																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(376-378)agG>agC		clathrin interactor 1							210	200	203					5																	157240156		1907	4118	6025	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157240156C>G	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.432G>C	5.37:g.157240156C>G	ENSP00000388340:p.Arg144Ser					CLINT1_ENST00000530742.1_Missense_Mutation_p.R126S|CLINT1_ENST00000523908.1_Missense_Mutation_p.R144S|CLINT1_ENST00000411809.2_Missense_Mutation_p.R144S|CLINT1_ENST00000296951.5_Missense_Mutation_p.R126S	p.R126S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	583	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	144			ENTH.		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.378G>C	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640714	0.47153	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	6.03	-2.31	0.06765	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.982	T	0.57033	-0.7880	10	0.87932	D	0	-16.7978	4.6875	0.12764	0.0917:0.3561:0.0908:0.4615	.	144;144	B7Z6F8;Q14677	.;EPN4_HUMAN	S	126;126;144;126;144	ENSP00000429345:R126S;ENSP00000433419:R126S;ENSP00000388340:R144S;ENSP00000296951:R126S;ENSP00000429824:R144S	ENSP00000296951:R126S	R	-	3	2	CLINT1	157172734	0.244000	0.23889	0.959000	0.39883	0.747000	0.42532	-0.311000	0.08124	-0.584000	0.05913	-0.797000	0.03246	AGG		0.418	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		4	88	0	0	0	1	0	4	88					G	157240156	C	G	157240156	3	3	290	1	0	0	0	0	1	0	0	0	3531	738	26	4	1477	4	CLINT1	5	157240156	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	9755610	157240156	23675104	14	30347											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975791	32975791	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagggagggccggtaccGttgatggctctgctgcggtt	18	9	1	2	rs138032675		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:32975791G>A	ENST00000229829.5	-	2	405	c.330C>T	c.(328-330)aaC>aaT	p.N110N	HLA-DOA_ENST00000450833.2_Splice_Site_p.N80N|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	110	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCGGTACCGTTGATGGCTC	0.657																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.e2+1		major histocompatibility complex, class II, DO alpha		G		0,3018		0,0,1509	53	65	61		330	-2.1	0.2	6	dbSNP_134	61	2,5416		0,2,2707	no	coding-synonymous-near-splice	HLA-DOA	NM_002119.3		0,2,4216	AA,AG,GG		0.0369,0.0,0.0237		110/251	32975791	2,8434	1509	2709	4218	SO:0001630	splice_region_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975791G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.331+1C>T	6.37:g.32975791G>A						HLA-DOA_ENST00000450833.2_Splice_Site_p.N80_splice|HLA-DOA_ENST00000495532.1_5'UTR	p.N110_splice	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			2	405	-			110			Alpha-1.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Splice_Site	SNP	ENST00000229829.5	37	c.331_splice	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	3.773	-0.047323	0.07407	0.0	3.69E-4	ENSG00000204252	ENST00000374813	.	.	.	4.35	-2.09	0.07232	.	.	.	.	.	T	0.49609	0.1567	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	T	0.59558	-0.7432	5	0.87932	D	0	.	8.979	0.35953	0.6297:0.0:0.3703:0.0	.	.	.	.	C	55	.	ENSP00000363946:R55C	R	-	1	0	HLA-DOA	33083769	0.007000	0.16637	0.191000	0.23289	0.268000	0.26511	-0.641000	0.05434	-0.334000	0.08463	-0.367000	0.07326	CGT		0.657	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119	Silent	5	62	0	0	0	1	0	5	62					A	32975791	G	A	32975791	5	1	290	1	0	0	0	0	0	0	1	0	7200	1159	40	1	438	1	HLA-DOA	6	32975791	Splice_Site	SNP	G	TCGA-HT-7884-01B-11D-2395-08		32975791	138139276	15	30348											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	31	0	0	0	1	0	4	31					G	45390466	A	G	45390466	2	3	290	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08	12414675	45390466	125724601	16	30349											
SYNE1	23345	broad.mit.edu	37	chr6	152697565	152697565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttatattttgaggtataTcaaaacacttggcggtagtg	9	6	1	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:152697565T>C	ENST00000367255.5	-	58	9876	c.9275A>G	c.(9274-9276)gAt>gGt	p.D3092G	SYNE1_ENST00000423061.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3131G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3092G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3099G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3092					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)		TTGAGGTATATCAAAACACTT	0.358										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(9274-9276)gAt>gGt		spectrin repeat containing, nuclear envelope 1							103	110	108					6																	152697565		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152697565T>C	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.9275A>G	6.37:g.152697565T>C	ENSP00000356224:p.Asp3092Gly	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.D3092G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3131G	p.D3092G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	58	9876	-		Ovarian(120;0.0955)	3092					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9275A>G	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.8|25.8	4.673992|4.673992	0.88445|0.88445	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.58652|.	1.13;0.33;1.13;0.32;1.13|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.67401|0.67401	0.2889|0.2889	M|M	0.71581|0.71581	2.175|2.175	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;0.997;0.999;1.0|.	T|T	0.68262|0.68262	-0.5455|-0.5455	10|5	0.37606|.	T|.	0.19|.	.|.	15.9822|15.9822	0.80121|0.80121	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3092;209;3092;3099|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	G|V	3092;3099;3092;3099;3131|209	ENSP00000356224:D3092G;ENSP00000396024:D3099G;ENSP00000265368:D3092G;ENSP00000390975:D3099G;ENSP00000341887:D3131G|.	ENSP00000265368:D3092G|.	D|I	-|-	2|1	0|0	SYNE1|SYNE1	152739258|152739258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.635000|7.635000	0.83286|0.83286	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		43	44	0	0	0	1	0	43	44					C	152697565	T	C	152697565	3	2	290	1	0	0	0	0	1	0	0	0	15442	1435	50	3	17547	3	SYNE1	6	152697565	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	107307099	152697565	18417502	17	30350											
ITGB8	3696	broad.mit.edu	37	chr7	20441726	20441726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacttttcttgtccatAtcaccatggaaatctgtgtg	9	8	3	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:20441726A>G	ENST00000222573.4	+	10	2348	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	ITGB8_ENST00000537992.1_Missense_Mutation_p.Y420C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	555	Cysteine-rich tandem repeats.				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						TCTTGTCCATATCACCATGGA	0.363																																						ENST00000222573.3																			0				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						c.(1663-1665)tAt>tGt		integrin, beta 8							90	94	93					7																	20441726		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441726A>G		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.1664A>G	7.37:g.20441726A>G	ENSP00000222573:p.Tyr555Cys					ITGB8_ENST00000537992.1_Missense_Mutation_p.Y420C	p.Y555C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			10	2348	+			555			Cysteine-rich tandem repeats.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1664A>G	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118414	0.77323	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92595	-3.07;-3.07	6.06	6.06	0.98353	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000002	D	0.95217	0.8449	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95560	0.8628	10	0.87932	D	0	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	555	P26012	ITB8_HUMAN	C	420;555	ENSP00000441561:Y420C;ENSP00000222573:Y555C	ENSP00000222573:Y555C	Y	+	2	0	ITGB8	20408251	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.190000	0.72057	2.315000	0.78130	0.533000	0.62120	TAT		0.363	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		9	131	0	0	0	1	0	9	131					G	20441726	A	G	20441726	3	3	290	1	0	0	0	0	1	0	0	0	7901	449	16	3	1702	3	ITGB8	7	20441726	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		20441726	138696937	18	30351											
AVL9	23080	broad.mit.edu	37	chr7	32599062	32599062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtatggcatgcccctgGccatcttcacaaaggtaaag	9	11	3	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:32599062G>A	ENST00000318709.4	+	10	1422	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AVL9_ENST00000404479.1_Missense_Mutation_p.A401T|AVL9_ENST00000409301.1_Missense_Mutation_p.A401T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	401					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATGCCCCTGGCCATCTTCAC	0.388																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1201-1203)Gcc>Acc		AVL9 homolog (S. cerevisiase)							50	52	51					7																	32599062		2093	3951	6044	SO:0001583	missense	23080					integral to membrane		g.chr7:32599062G>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1201G>A	7.37:g.32599062G>A	ENSP00000315568:p.Ala401Thr					AVL9_ENST00000404479.1_Missense_Mutation_p.A401T|AVL9_ENST00000409301.1_Missense_Mutation_p.A401T	p.A401T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			10	1422	+			401					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1201G>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671095	0.67814	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.41	5.41	0.78517	.	0.103818	0.64402	D	0.000003	T	0.57373	0.2049	L	0.59436	1.845	0.47862	D	0.999532	D;D;P	0.58268	0.982;0.976;0.939	P;P;P	0.57620	0.824;0.542;0.795	T	0.50701	-0.8797	10	0.36615	T	0.2	-14.8706	19.3887	0.94570	0.0:0.0:1.0:0.0	.	401;401;401	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	T	401;401;401;401;332	ENSP00000315568:A401T;ENSP00000387011:A401T;ENSP00000385242:A401T;ENSP00000395134:A332T	ENSP00000315568:A401T	A	+	1	0	AVL9	32565587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.113000	0.57851	2.826000	0.97356	0.655000	0.94253	GCC		0.388	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		28	40	0	0	0	1	0	28	40					A	32599062	G	A	32599062	3	1	290	1	0	0	0	0	1	0	0	0	1228	1203	42	2	1239	2	AVL9	7	32599062	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	12157336	32599062	126539601	19	30352											
IMMP2L	83943	broad.mit.edu	37	chr7	110303732	110303732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgccagcgctctggggGccacaggatatgtgtggcat	14	10	2	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:110303732G>A	ENST00000405709.2	-	6	896	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	IMMP2L_ENST00000331762.3_Missense_Mutation_p.P152S|IMMP2L_ENST00000452895.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000450877.1_Missense_Mutation_p.P134S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	152					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CGCTCTGGGGGCCACAGGATA	0.448																																						ENST00000405709.2																			0				endometrium(3)|large_intestine(6)|lung(5)	14						c.(454-456)Ccc>Tcc		IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)							72	73	72					7																	110303732		2203	4300	6503	SO:0001583	missense	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110303732G>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.454C>T	7.37:g.110303732G>A	ENSP00000384966:p.Pro152Ser					IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000450877.1_Missense_Mutation_p.P134S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000452895.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000331762.3_Missense_Mutation_p.P152S	p.P152S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	6	896	-			152					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	c.454C>T	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686701	0.88639	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.5	5.5	0.81552	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84888	0.0835	9	0.87932	D	0	-5.5709	18.5467	0.91048	0.0:0.0:1.0:0.0	.	152	Q96T52	IMP2L_HUMAN	S	152;152;152;134;152	.	ENSP00000329553:P152S	P	-	1	0	IMMP2L	110090968	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.003000	0.70701	2.756000	0.94617	0.563000	0.77884	CCC		0.448	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		5	93	0	0	0	1	0	5	93					A	110303732	G	A	110303732	3	1	290	1	0	0	0	0	1	0	0	0	7717	1203	42	2	77	2	IMMP2L	7	110303732	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	77704670	110303732	48834931	20	30353											
PCM1	5108	broad.mit.edu	37	chr8	17794714	17794714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtttggtgtagaaagTgataaaagagtaaccaatga	10	2	0	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr8:17794714T>C	ENST00000519253.1	+	4	419	c.168T>C	c.(166-168)agT>agC	p.S56S	PCM1_ENST00000518936.1_3'UTR|PCM1_ENST00000325083.8_Silent_p.S56S|PCM1_ENST00000524226.1_Silent_p.S56S|PCM1_ENST00000518537.1_Silent_p.S56S			Q15154	PCM1_HUMAN	pericentriolar material 1	56					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)		GTGTAGAAAGTGATAAAAGAG	0.373			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(166-168)agT>agC		pericentriolar material 1							58	57	57					8																	17794714		1971	4143	6114	SO:0001819	synonymous_variant	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17794714T>C		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.168T>C	8.37:g.17794714T>C						PCM1_ENST00000519253.1_Silent_p.S56S|PCM1_ENST00000518537.1_Silent_p.S56S|PCM1_ENST00000524226.1_Silent_p.S56S|PCM1_ENST00000518936.1_3'UTR	p.S56S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	4	607	+			56					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Silent	SNP	ENST00000519253.1	37	c.168T>C																																																																																					0.373	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		4	15	0	0	0	1	0	4	15					C	17794714	T	C	17794714	2	2	290	1	0	0	0	0	0	0	0	1	11584	1693	59	3		3	PCM1	8	17794714	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		17794714	128569308	21	30354											
FAM164A	51101	broad.mit.edu	37	chr8	79598805	79598805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccctcaaagagggtgGcaaacttcctcctcctcctc	8	16	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr8:79598805G>A	ENST00000263849.4	+	4	416	c.314G>A	c.(313-315)gGc>gAc	p.G105D	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	105							metal ion binding (GO:0046872)										AAAGAGGGTGGCAAACTTCCT	0.398																																						ENST00000263849.4																			0											c.(313-315)gGc>gAc		zinc finger, C2HC-type containing 1A							67	63	65					8																	79598805		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79598805G>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.314G>A	8.37:g.79598805G>A	ENSP00000263849:p.Gly105Asp					ZC2HC1A_ENST00000521176.1_3'UTR	p.G105D	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			4	416	+			105					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.314G>A	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913743	0.92178	.	.	ENSG00000104427	ENST00000263849	T	0.51817	0.69	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.77107	-0.2710	9	.	.	.	-10.464	19.429	0.94756	0.0:0.0:1.0:0.0	.	105	Q96GY0	F164A_HUMAN	D	105	ENSP00000263849:G105D	.	G	+	2	0	FAM164A	79761360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.231000	0.78106	2.667000	0.90743	0.585000	0.79938	GGC		0.398	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		3	43	0	0	0	1	0	3	43					A	79598805	G	A	79598805	3	1	290	1	0	0	0	0	1	0	0	0	5478	1203	42	2	328	2	FAM164A	8	79598805	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	61804091	79598805	66765217	22	30355											
OR4C16	219428	broad.mit.edu	37	chr11	55339961	55339961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcacggctgttgacCgctatgtggacatctgtaag	10	11	3	1	rs201401810		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:55339961C>T	ENST00000314634.3	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	120						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)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGCTGTTGACCGCTATGTGGA	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19529	0.0		0.0	False		,,,				2504	0.0					ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(358-360)Cgc>Tgc		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							193	184	187					11																	55339961		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339961C>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.358C>T	11.37:g.55339961C>T	ENSP00000324913:p.Arg120Cys						p.R120C	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	358	+		all_epithelial(135;0.0748)	120					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.358C>T	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682286	0.47991	.	.	ENSG00000181935	ENST00000314634	T	0.77358	-1.09	4.98	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.76891	0.4051	M	0.78285	2.405	0.43255	D	0.995185	B	0.23058	0.079	B	0.21546	0.035	T	0.76575	-0.2909	10	0.72032	D	0.01	.	11.2485	0.49010	0.0:0.9107:0.0:0.0893	.	120	Q8NGL9	OR4CG_HUMAN	C	120	ENSP00000324913:R120C	ENSP00000324913:R120C	R	+	1	0	OR4C16	55096537	0.990000	0.36364	0.999000	0.59377	0.955000	0.61496	3.648000	0.54410	1.333000	0.45449	0.549000	0.68633	CGC		0.517	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		105	135	0	0	0	1	0	105	135					T	55339961	C	T	55339961	3	4	290	1	0	0	0	0	1	0	0	0	11049	652	23	1	360	1	OR4C16	11	55339961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		55339961	79666555	23	30356											
OR4D6	219983	broad.mit.edu	37	chr11	59224594	59224594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactattacctgtgagtcccGcctacacactcctatgtact	5	15	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:59224594G>A	ENST00000300127.2	+	1	184	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGAGTCCCGCCTACACACT	0.458																																						ENST00000300127.2																			1	Substitution - Missense(1)	p.R54H(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(160-162)cGc>cAc		olfactory receptor, family 4, subfamily D, member 6							156	133	141					11																	59224594		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224594G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.161G>A	11.37:g.59224594G>A	ENSP00000300127:p.Arg54His						p.R54H	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	184	+			54					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.161G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.874879	0.02550	.	.	ENSG00000166884	ENST00000300127	T	0.01139	5.28	6.0	-1.7	0.08159	GPCR, rhodopsin-like superfamily (1);	0.233058	0.30235	N	0.010095	T	0.00845	0.0028	N	0.20530	0.585	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48115	-0.9063	10	0.12430	T	0.62	-0.5658	12.7298	0.57191	0.4874:0.0:0.5126:0.0	.	54	Q8NGJ1	OR4D6_HUMAN	H	54	ENSP00000300127:R54H	ENSP00000300127:R54H	R	+	2	0	OR4D6	58981170	0.000000	0.05858	0.007000	0.13788	0.072000	0.16883	-2.041000	0.01415	-0.424000	0.07382	-0.827000	0.03088	CGC		0.458	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		7	112	0	0	0	1	0	7	112					A	59224594	G	A	59224594	3	1	290	1	0	0	0	0	1	0	0	0	11058	1087	38	1	163	1	OR4D6	11	59224594	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	3884633	59224594	75781922	24	30357											
ZNF259	8882	broad.mit.edu	37	chr11	116657243	116657243	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacccttcgtgcaggctggTcctgctccaggccagagata	11	13	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:116657243T>C	ENST00000227322.3	-	4	538	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		160					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGCAGGCTGGTCCTGCTCCAG	0.478																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(478-480)gAc>gGc		zinc finger protein 259							92	80	84					11																	116657243		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116657243T>C																												ENST00000227322.3:c.479A>G	11.37:g.116657243T>C	ENSP00000227322:p.Asp160Gly						p.D160G	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	4	538	-	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)	160					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.479A>G	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.415307|4.415307	0.83449|0.83449	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000444935	T|.	0.45668|.	0.89|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Zinc finger, ZPR1-type (3);|.	0.128592|.	0.64402|.	D|.	0.000001|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	P;P|.	0.40794|.	0.729;0.725|.	P;P|.	0.53102|.	0.718;0.658|.	T|T	0.56986|0.56986	-0.7888|-0.7888	10|5	0.48119|.	T|.	0.1|.	-30.0377|-30.0377	15.6027|15.6027	0.76636|0.76636	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	109;160|.	B4DVT8;O75312|.	.;ZPR1_HUMAN|.	G|A	160|160	ENSP00000227322:D160G|.	ENSP00000227322:D160G|.	D|T	-|-	2|1	0|0	ZNF259|ZNF259	116162453|116162453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.980000|6.980000	0.76160|0.76160	2.142000|2.142000	0.66516|0.66516	0.459000|0.459000	0.35465|0.35465	GAC|ACC		0.478	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			20	50	0	0	0	1	0	20	50					C	116657243	T	C	116657243	3	2	290	1	0	0	0	0	1	0	0	0	17798	1667	58	3	944	3	ZNF259	11	116657243	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	57432649	116657243	18349273	25	30358											
FKBP4	2288	broad.mit.edu	37	chr12	2910516	2910516	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaggctggctgaggaggaGaacaaggtgaggattggggt	21	3	0	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:2910516G>A	ENST00000001008.4	+	9	1453	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	422					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)			CTGAGGAGGAGAACAAGGTGA	0.557																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1264-1266)gaG>gaA		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						61	66	64					12																	2910516		2203	4300	6503	SO:0001819	synonymous_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2910516G>A	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.1266G>A	12.37:g.2910516G>A						RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.E422E	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		9	1453	+			422					D3DUQ1|Q9UCP1|Q9UCV7	Silent	SNP	ENST00000001008.4	37	c.1266G>A	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	G	7.204	0.594071	0.13875	.	.	ENSG00000004478	ENST00000539181	.	.	.	5.57	0.246	0.15516	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22452	-1.0216	4	.	.	.	-13.3303	1.8199	0.03109	0.3294:0.2434:0.3199:0.1073	.	.	.	.	K	58	.	.	R	+	2	0	FKBP4	2780777	0.001000	0.12720	0.705000	0.30386	0.961000	0.63080	-0.541000	0.06099	0.012000	0.14892	0.561000	0.74099	AGA		0.557	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			33	190	0	0	0	1	0	33	190					A	2910516	G	A	2910516	2	1	290	1	0	0	0	0	0	0	0	1	5910	933	33	2		2	FKBP4	12	2910516	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2910516	130941379	26	30359											
KIAA0748	9840	broad.mit.edu	37	chr12	55356531	55356531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagggtaccttggggttcGaatccagagtttgggatggt	15	6	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:55356531G>A	ENST00000449076.1	-	9	1283	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	TESPA1_ENST00000532804.1_Missense_Mutation_p.S246L|TESPA1_ENST00000531122.1_Missense_Mutation_p.S246L|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.S384L|TESPA1_ENST00000524622.1_Missense_Mutation_p.S246L	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	384					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)		p.S246L(1)|p.S384L(1)									CTTGGGGTTCGAATCCAGAGT	0.507																																						ENST00000524622.1																			2	Substitution - Missense(2)	p.S246L(1)|p.S384L(1)	prostate(2)								c.(736-738)tCg>tTg		thymocyte expressed, positive selection associated 1							85	84	84					12																	55356531		2002	4176	6178	SO:0001583	missense	9840							g.chr12:55356531G>A	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.1151C>T	12.37:g.55356531G>A	ENSP00000400892:p.Ser384Leu					TESPA1_ENST00000532804.1_Missense_Mutation_p.S246L|TESPA1_ENST00000531122.1_Missense_Mutation_p.S246L|TESPA1_ENST00000316577.8_Missense_Mutation_p.S384L|TESPA1_ENST00000449076.1_Missense_Mutation_p.S384L	p.S246L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1398	-			384					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.737C>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.107012	0.01813	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	3.92	2.11	0.27256	.	0.612725	0.14756	N	0.300303	T	0.22205	0.0535	N	0.24115	0.695	0.19300	N	0.999975	P	0.35700	0.516	B	0.24974	0.057	T	0.09314	-1.0680	10	0.46703	T	0.11	0.0505	6.2833	0.21019	0.2236:0.0:0.7764:0.0	.	384	A2RU30	K0748_HUMAN	L	246;246;384;384;246	ENSP00000435622:S246L;ENSP00000432030:S246L;ENSP00000400892:S384L;ENSP00000312679:S384L;ENSP00000433098:S246L	ENSP00000312679:S384L	S	-	2	0	KIAA0748	53642798	0.062000	0.20869	0.414000	0.26521	0.019000	0.09904	0.254000	0.18314	0.633000	0.30452	-0.140000	0.14226	TCG		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		33	34	0	0	0	1	0	33	34					A	55356531	G	A	55356531	3	1	290	1	0	0	0	0	1	0	0	0	8190	1059	37	1	422	1	KIAA0748	12	55356531	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	52446015	55356531	78495364	27	30360											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112327906	112327906	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagtataaccgggaaTgcaaactcctaagagatact	9	8	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:112327906T>G	ENST00000551404.2	+	13	1393	c.1285T>G	c.(1285-1287)Tgc>Ggc	p.C429G	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.C427G			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	429					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TAACCGGGAATGCAAACTCCT	0.428																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(1279-1281)Tgc>Ggc		mitogen-activated protein kinase-activated protein kinase 5							67	65	65					12																	112327906		1896	4122	6018	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112327906T>G	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1285T>G	12.37:g.112327906T>G	ENSP00000449381:p.Cys429Gly					MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.C429G	p.C427G	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			13	2035	+			429					B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.1279T>G	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103939	0.56291	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111;ENST00000547067	T;T	0.55930	0.49;0.49	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	N	0.19112	0.55	0.80722	D	1	B;P;D	0.53462	0.435;0.932;0.96	B;P;D	0.66351	0.064;0.879;0.943	T	0.54275	-0.8318	10	0.25106	T	0.35	.	16.2498	0.82475	0.0:0.0:0.0:1.0	.	423;429;427	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	G	427;429;427;429;110;90	ENSP00000449667:C427G;ENSP00000449381:C429G	ENSP00000202788:C429G	C	+	1	0	MAPKAPK5	110812289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.237000	0.73441	0.477000	0.44152	TGC		0.428	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		4	6	0	0	0	1	0	4	6					G	112327906	T	G	112327906	3	3	290	1	0	0	0	0	1	0	0	0	9291	1464	51	5	1335	5	MAPKAPK5	12	112327906	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	56971375	112327906	21523989	28	30361											
PXMP2	5827	broad.mit.edu	37	chr12	133277886	133277886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagggggggcttctggccGgcgctgaggatgaactggcg	20	8	1	3	rs139134478	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:133277886G>A	ENST00000317479.3	+	4	515	c.450G>A	c.(448-450)ccG>ccA	p.P150P	RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.G22S|PXMP2_ENST00000428960.2_Silent_p.P57P|PXMP2_ENST00000539093.1_Missense_Mutation_p.G22S|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000545677.1_Missense_Mutation_p.G22S	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	150						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)		GCTTCTGGCCGGCGCTGAGGA	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15494	0.001		0.0	False		,,,				2504	0.0					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(64-66)Ggc>Agc		peroxisomal membrane protein 2, 22kDa		G		4,4402	9.9+/-24.2	0,4,2199	60	66	64		450	-10.6	0	12	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	PXMP2	NM_018663.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		150/196	133277886	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277886G>A		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.450G>A	12.37:g.133277886G>A						PXMP2_ENST00000317479.3_Silent_p.P150P|PXMP2_ENST00000428960.2_Silent_p.P57P|PXMP2_ENST00000539093.1_Missense_Mutation_p.G22S|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.G22S|PXMP2_ENST00000543589.1_Intron	p.G22S			Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	267	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000317479.3	37	c.64G>A	CCDS9279.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	6.041	0.375973	0.11409	9.08E-4	0.0	ENSG00000176894;ENSG00000176894;ENSG00000256632	ENST00000545677;ENST00000539093;ENST00000537262	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.41875	-0.9484	5	0.87932	D	0	.	2.2502	0.04042	0.4072:0.0682:0.2457:0.279	.	.	.	.	S	22	.	ENSP00000444486:G22S	G	+	1	0	RP13-672B3.2;PXMP2	131787959	0.013000	0.17824	0.011000	0.14972	0.110000	0.19582	-1.439000	0.02414	-3.080000	0.00251	-1.541000	0.00910	GGC		0.612	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		6	115	0	0	0	1	0	6	115					A	133277886	G	A	133277886	2	1	290	1	0	0	0	0	0	0	0	1	12850	1103	39	1		1	PXMP2	12	133277886	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	20949980	133277886	574009	29	30362											
SLC39A9	55334	broad.mit.edu	37	chr14	69908908	69908908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcatgcctatattggtGtttccctcgttctgggcttc	10	11	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr14:69908908G>A	ENST00000336643.5	+	3	1006	c.328G>A	c.(328-330)Gtt>Att	p.V110I	SLC39A9_ENST00000556605.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000557046.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	110					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTATATTGGTGTTTCCCTCGT	0.483																																						ENST00000336643.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(328-330)Gtt>Att		solute carrier family 39, member 9							389	320	343					14																	69908908		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69908908G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.328G>A	14.37:g.69908908G>A	ENSP00000336887:p.Val110Ile					SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000557046.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V110I	p.V110I	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	3	1006	+			110					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.328G>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210341	0.39003	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.62639	1.58;0.01;0.74	5.41	5.41	0.78517	.	0.054433	0.64402	D	0.000001	T	0.47173	0.1431	N	0.15975	0.35	0.58432	D	0.999998	B;B;B	0.12013	0.001;0.005;0.003	B;B;B	0.15052	0.012;0.011;0.011	T	0.36744	-0.9735	10	0.16420	T	0.52	-17.1673	19.561	0.95373	0.0:0.0:1.0:0.0	.	110;110;110	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	I	110	ENSP00000452385:V110I;ENSP00000336887:V110I;ENSP00000451833:V110I	ENSP00000031146:V110I	V	+	1	0	SLC39A9	68978661	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	7.230000	0.78097	2.696000	0.92011	0.655000	0.94253	GTT		0.483	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		31	193	0	0	0	1	0	31	193					A	69908908	G	A	69908908	3	1	290	1	0	0	0	0	1	0	0	0	14625	1377	48	2	338	2	SLC39A9	14	69908908	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		69908908	37440632	30	30363											
LTK	4058	broad.mit.edu	37	chr15	41796600	41796600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagggcggagctcaggctcGtgctgccaacactgggtcat	14	12	2	0	rs556097894		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr15:41796600G>A	ENST00000263800.6	-	19	2382	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	LTK_ENST00000355166.5_Silent_p.H701H|LTK_ENST00000561619.1_Silent_p.H460H|LTK_ENST00000453182.2_Silent_p.H632H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		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;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTCAGGCTCGTGCTGCCAAC	0.592										TSP Lung(18;0.14)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.0					ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(2284-2286)caC>caT		leukocyte receptor tyrosine kinase							80	70	73					15																	41796600		2203	4300	6503	SO:0001819	synonymous_variant	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41796600G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2286C>T	15.37:g.41796600G>A		TSP Lung(18;0.14)				LTK_ENST00000355166.5_Silent_p.H701H|LTK_ENST00000453182.2_Silent_p.H632H|LTK_ENST00000561619.1_Silent_p.H460H	p.H762H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	19	2382	-		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)	762			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	c.2286C>T	CCDS10077.1																																																																																				0.592	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			6	67	0	0	0	1	0	6	67					A	41796600	G	A	41796600	2	1	290	1	0	0	0	0	0	0	0	1	9080	1136	40	1		1	LTK	15	41796600	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		41796600	60734792	31	30364											
SRRM2	23524	broad.mit.edu	37	chr16	2816330	2816330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccagtaacccgccgtcGttcaaggtctagaacgccaa	9	15	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:2816330G>A	ENST00000301740.8	+	11	6350	c.5801G>A	c.(5800-5802)cGt>cAt	p.R1934H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1934	Arg-rich.|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						ACCCGCCGTCGTTCAAGGTCT	0.582																																						ENST00000301740.8																			0				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						c.(5800-5802)cGt>cAt		serine/arginine repetitive matrix 2							76	79	78					16																	2816330		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816330G>A	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.5801G>A	16.37:g.2816330G>A	ENSP00000301740:p.Arg1934His						p.R1934H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6350	+			1934			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5801G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707022	0.30232	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.25579	1.79	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000020	T	0.29458	0.0734	N	0.08118	0	0.34950	D	0.751166	D	0.76494	0.999	P	0.62435	0.902	T	0.49781	-0.8903	10	0.72032	D	0.01	-7.8039	16.3084	0.82859	0.0:0.0:1.0:0.0	.	1934	Q9UQ35	SRRM2_HUMAN	H	1934;1934;1186	ENSP00000301740:R1934H	ENSP00000301740:R1934H	R	+	2	0	SRRM2	2756331	0.230000	0.23740	0.987000	0.45799	0.985000	0.73830	2.620000	0.46410	2.454000	0.82982	0.650000	0.86243	CGT		0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			57	71	0	0	0	1	0	57	71					A	2816330	G	A	2816330	3	1	290	1	0	0	0	0	1	0	0	0	15168	1145	40	1	5839	1	SRRM2	16	2816330	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2816330	87538423	32	30365											
ZNF319	57567	broad.mit.edu	37	chr16	58030901	58030901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgaagggccgctcggcCgcgccgggcaggcacttgtg	16	14	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:58030901C>T	ENST00000299237.2	-	2	1891	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCGCTCGGCCGCGCCGGGCA	0.657																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1267-1269)gcG>gcA		zinc finger protein 319							27	29	28					16																	58030901		2195	4297	6492	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030901C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1269G>A	16.37:g.58030901C>T							p.A423A	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1891	-			423					Q52LH8	Silent	SNP	ENST00000299237.2	37	c.1269G>A	CCDS32462.1																																																																																				0.657	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			14	40	0	0	0	1	0	14	40					T	58030901	C	T	58030901	2	4	290	1	0	0	0	0	0	0	0	1	17834	639	23	1		1	ZNF319	16	58030901	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	55214571	58030901	32323852	33	30366											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840572	1840572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagactccacagcttgttgcCgtggagaaacaggtggctga	13	10	0	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:1840572C>T	ENST00000331238.6	-	2	1023	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGCTTGTTGCCGTGGAGAAAC	0.602																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(544-546)Ggc>Agc		reticulon 4 receptor-like 1							37	43	41					17																	1840572		2036	4182	6218	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840572C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.544G>A	17.37:g.1840572C>T	ENSP00000330631:p.Gly182Ser						p.G182S	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	562	-			182						Missense_Mutation	SNP	ENST00000331238.6	37	c.544G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775990	0.90195	.	.	ENSG00000185924	ENST00000331238	T	0.02525	4.26	5.72	5.72	0.89469	.	0.000000	0.40064	N	0.001189	T	0.08358	0.0208	L	0.31157	0.91	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	T	0.28364	-1.0046	10	0.46703	T	0.11	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	182	Q86UN2	R4RL1_HUMAN	S	182	ENSP00000330631:G182S	ENSP00000330631:G182S	G	-	1	0	RTN4RL1	1787322	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	7.814000	0.86154	2.717000	0.92951	0.644000	0.83932	GGC		0.602	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		8	63	0	0	0	1	0	8	63					T	1840572	C	T	1840572	3	4	290	1	0	0	0	0	1	0	0	0	13731	652	23	1	785	1	RTN4RL1	17	1840572	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		1840572	79354638	34	30367											
TP53	7157	broad.mit.edu	37	chr17	7577076	7577077	+	Frame_Shift_Ins	INS	-	-	C													tcccctttcttgcggagattINSctcttcctctgtgcgccggt							TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577076_7577077insC	ENST00000269305.4	-	8	1050_1051	c.861_862insG	c.(859-864)gagaatfs	p.N288fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N288fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N288fs	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	288	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N288Y(3)|p.N288fs*18(3)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.N288fs*57(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287fs*17(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.N288D(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.N288fs*17(1)|p.N288fs*15(1)|p.E285_L289delEEENL(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)	TTGCGGAGATTCTCTTCCTCTG	0.569		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		58	Deletion - Frameshift(28)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Substitution - coding silent(5)|Insertion - Frameshift(3)|Unknown(2)	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.N288Y(3)|p.N288fs*18(3)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.N288fs*57(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287fs*17(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.N288D(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.N288fs*17(1)|p.N288fs*15(1)|p.E285_L289delEEENL(1)	upper_aerodigestive_tract(20)|urinary_tract(5)|breast(5)|liver(5)|large_intestine(4)|stomach(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|soft_tissue(1)|oesophagus(1)|lung(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						c.(859-864)gaatctfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577076_7577077insC	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.862dupG	17.37:g.7577077_7577077dupC	ENSP00000269305:p.Asn288fs	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)				TP53_ENST00000455263.2_Frame_Shift_Ins_p.S288fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S288fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S288fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S288fs	p.S288fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	993_994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	288		N -> D (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.861_862insG	CCDS11118.1																																																																																				0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	42						33	42	---	---	---	---	C	7577077	-	C	7577076	7	5	290	1	0	1	1	0	0	0	0	0	16378	1783	62	0	424	0	TP53	17	7577076	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	5736504	7577076	73618134	35	30368			1	30		2	2	46	N	G_-	6.977233e-05
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	17	0	0	0	1	0	14	17					A	7577121	G	A	7577121	3	1	290	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	45	7577121	73618089	36	30369			1	30		2	2	46	N	G_-	6.977233e-05
LRRC37A3	374819	broad.mit.edu	37	chr17	62856443	62856443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatagcgtgggttaagTctttccatctgtctctcacc	9	10	4	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:62856443T>C	ENST00000584306.1	-	11	4351	c.3821A>G	c.(3820-3822)gAc>gGc	p.D1274G	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D392G|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1274G|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D251G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D312G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1274						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						GTGGGTTAAGTCTTTCCATCT	0.458																																						ENST00000584306.1																			0				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						c.(3820-3822)gAc>gGc		leucine rich repeat containing 37, member A3							78	81	80					17																	62856443		2203	4297	6500	SO:0001583	missense	374819					integral to membrane		g.chr17:62856443T>C	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.3821A>G	17.37:g.62856443T>C	ENSP00000464535:p.Asp1274Gly					LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D312G|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D392G|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D251G|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1274G	p.D1274G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4351	-			1274					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3821A>G	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.584544	0.28268	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.73469	0.73;0.73;-0.75	2.26	-0.14	0.13456	.	.	.	.	.	T	0.77082	0.4078	L	0.53249	1.67	0.09310	N	1	P;D	0.57571	0.512;0.98	B;D	0.68192	0.228;0.956	T	0.63301	-0.6668	9	0.66056	D	0.02	.	1.7073	0.02884	0.2882:0.1789:0.0:0.5329	.	392;1274	B4DG20;O60309	.;L37A3_HUMAN	G	355;312;251;1274	ENSP00000383674:D312G;ENSP00000335617:D251G;ENSP00000325713:D1274G	ENSP00000325713:D1274G	D	-	2	0	LRRC37A3	60286905	0.090000	0.21635	0.099000	0.21106	0.013000	0.08279	0.694000	0.25512	0.133000	0.18654	-1.987000	0.00451	GAC		0.458	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		21	154	0	0	0	1	0	21	154					C	62856443	T	C	62856443	3	2	290	1	0	0	0	0	1	0	0	0	8993	1667	58	3	1099	3	LRRC37A3	17	62856443	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	55279322	62856443	18338767	37	30370											
USH1G	124590	broad.mit.edu	37	chr17	72916511	72916511	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgcgccgctccgcctcgcgGaaggccttgtccttcagctt	11	16	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:72916511G>C	ENST00000319642.1	-	2	602	c.420C>G	c.(418-420)ttC>ttG	p.F140L		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	140					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCGCCTCGCGGAAGGCCTTGT	0.672																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(418-420)ttC>ttG		Usher syndrome 1G (autosomal recessive)							82	60	67					17																	72916511		2203	4300	6503	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916511G>C	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.420C>G	17.37:g.72916511G>C	ENSP00000320076:p.Phe140Leu						p.F140L	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	602	-	all_lung(278;0.172)|Lung NSC(278;0.207)		140					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.420C>G	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297856	0.23650	.	.	ENSG00000182040	ENST00000319642	T	0.70282	-0.47	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	L	0.49350	1.555	0.58432	D	0.999998	B	0.24721	0.11	B	0.19148	0.024	T	0.52328	-0.8590	10	0.05525	T	0.97	-18.2349	11.8856	0.52600	0.0899:0.0:0.9101:0.0	.	140	Q495M9	USH1G_HUMAN	L	140	ENSP00000320076:F140L	ENSP00000320076:F140L	F	-	3	2	USH1G	70428106	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.630000	0.46494	2.118000	0.64928	0.313000	0.20887	TTC		0.672	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		4	67	0	0	0	1	0	4	67					C	72916511	G	C	72916511	3	2	290	1	0	0	0	0	1	0	0	0	17032	1165	41	4	973	4	USH1G	17	72916511	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	10060068	72916511	8278699	38	30371											
CNDP1	84735	broad.mit.edu	37	chr18	72201914	72201914	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctaatggatcccaaActcgggagaatggtgagtag	12	9	0	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr18:72201914A>T	ENST00000358821.3	+	1	240	c.12A>T	c.(10-12)aaA>aaT	p.K4N	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Missense_Mutation_p.K4N	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	4						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)		TGGATCCCAAACTCGGGAGAA	0.537																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				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						c.(10-12)aaA>aaT		carnosine dipeptidase 1 (metallopeptidase M20 family)							101	91	94					18																	72201914		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72201914A>T		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.12A>T	18.37:g.72201914A>T	ENSP00000351682:p.Lys4Asn					CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000358821.3_Missense_Mutation_p.K4N	p.K4N			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	1	78	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	0					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.12A>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	8.322	0.824601	0.16678	.	.	ENSG00000150656	ENST00000358821	T	0.15017	2.46	3.98	2.82	0.32997	.	2.345130	0.01753	N	0.030072	T	0.08626	0.0214	N	0.08118	0	0.19300	N	0.999977	P	0.37781	0.608	B	0.29598	0.104	T	0.23440	-1.0188	10	0.28530	T	0.3	.	5.9114	0.19031	0.8752:0.0:0.1248:0.0	.	4	Q96KN2	CNDP1_HUMAN	N	4	ENSP00000351682:K4N	ENSP00000351682:K4N	K	+	3	2	CNDP1	70352894	0.475000	0.25894	0.035000	0.18076	0.055000	0.15305	-0.257000	0.08745	0.439000	0.26476	0.528000	0.53228	AAA		0.537	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		13	33	0	0	0	1	0	13	33					T	72201914	A	T	72201914	3	4	290	1	0	0	0	0	1	0	0	0	3593	40	2	5	14	5	CNDP1	18	72201914	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		72201914	5875334	39	30372											
MAST3	23031	broad.mit.edu	37	chr19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggttagcttcgatgagcCgcaggaggaggccactgggc	18	9	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1277							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						TTCGATGAGCCGCAGGAGGAG	0.667																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(3829-3831)cCg>cTg		microtubule associated serine/threonine kinase 3							18	21	20					19																	18260436		2098	4216	6314	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18260436C>T	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.3830C>T	19.37:g.18260436C>T	ENSP00000262811:p.Pro1277Leu					AC007192.6_ENST00000600364.1_RNA	p.P1277L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			27	3830	+			1277					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.3830C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965291	0.34659	.	.	ENSG00000099308	ENST00000262811	T	0.70516	-0.49	4.56	3.28	0.37604	.	0.286267	0.32655	N	0.005808	T	0.57475	0.2056	L	0.32530	0.975	0.43368	D	0.995457	B	0.06786	0.001	B	0.04013	0.001	T	0.48736	-0.9009	10	0.25106	T	0.35	-8.5681	12.3184	0.54971	0.4035:0.5965:0.0:0.0	.	1277	O60307	MAST3_HUMAN	L	1277	ENSP00000262811:P1277L	ENSP00000262811:P1277L	P	+	2	0	MAST3	18121436	0.844000	0.29557	0.894000	0.35097	0.772000	0.43724	0.398000	0.20899	0.674000	0.31244	0.313000	0.20887	CCG		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		8	32	0	0	0	1	0	8	32					T	18260436	C	T	18260436	3	4	290	1	0	0	0	0	1	0	0	0	9326	652	23	1	3936	1	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		18260436	40868547	40	30373											
IL29	282618	broad.mit.edu	37	chr19	39788648	39788648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgagctggccctgacGctgaaggtcctggaggccgc	17	12	0	3	rs150964916	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:39788648G>A	ENST00000333625.2	+	3	391	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	98					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										TGGCCCTGACGCTGAAGGTCC	0.642													G|||	20	0.00399361	0.0008	0.0058	5008	,	,		15004	0.0		0.0119	False		,,,				2504	0.0031					ENST00000333625.2																			0											c.(292-294)acG>acA		interferon, lambda 1		G		7,4399	12.9+/-30.5	0,7,2196	51	53	52		294	-9.1	0	19	dbSNP_134	52	102,8498	55.6+/-116.7	1,100,4199	no	coding-synonymous	IL29	NM_172140.1		1,107,6395	AA,AG,GG		1.186,0.1589,0.8381		98/201	39788648	109,12897	2203	4300	6503	SO:0001819	synonymous_variant	282618							g.chr19:39788648G>A	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.294G>A	19.37:g.39788648G>A							p.T98T	NM_172140.1	NP_742152.1					3	391	+								A0AV25|Q17R34	Silent	SNP	ENST00000333625.2	37	c.294G>A	CCDS12531.1																																																																																				0.642	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		5	75	0	0	0	1	0	5	75					A	39788648	G	A	39788648	2	1	290	1	0	0	0	0	0	0	0	1	7685	1074	38	1		1	IL29	19	39788648	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	21528212	39788648	19340335	41	30374											
DIDO1	11083	broad.mit.edu	37	chr20	61511961	61511961	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttagaagcgatattctcttCtggaaacggaggggctggcc	14	8	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511961C>T	ENST00000266070.4	-	16	5672	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1783K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1783	Pro-rich.				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)					ATATTCTCTTCTGGAAACGGA	0.612																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(5347-5349)Gaa>Aaa		death inducer-obliterator 1							63	76	72					20																	61511961		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511961C>T	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.5347G>A	20.37:g.61511961C>T	ENSP00000266070:p.Glu1783Lys					DIDO1_ENST00000395343.1_Missense_Mutation_p.E1783K	p.E1783K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5672	-	Breast(26;5.68e-08)		1783			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5347G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182345	0.38511	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10288	2.89;2.89	5.02	5.02	0.67125	.	0.000000	0.44285	D	0.000462	T	0.15912	0.0383	M	0.63428	1.95	0.80722	D	1	P	0.43094	0.799	B	0.38562	0.276	T	0.02398	-1.1165	10	0.62326	D	0.03	-24.6877	18.3426	0.90311	0.0:1.0:0.0:0.0	.	1783	Q9BTC0	DIDO1_HUMAN	K	1783	ENSP00000266070:E1783K;ENSP00000378752:E1783K	ENSP00000266070:E1783K	E	-	1	0	DIDO1	60982406	1.000000	0.71417	0.131000	0.22000	0.051000	0.14879	4.266000	0.58871	2.301000	0.77427	0.555000	0.69702	GAA		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		16	197	0	0	0	1	0	16	197					T	61511961	C	T	61511961	3	4	290	1	0	0	0	0	1	0	0	0	4522	922	32	2	1379	2	DIDO1	20	61511961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		61511961	1513559	42	30375			2	31		2	2	32	C		4.806591e-05
DIDO1	11083	broad.mit.edu	37	chr20	61511992	61511992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctggcccccttggtccCgggaaattggggccgtgaag	18	11	0	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511992C>T	ENST00000266070.4	-	16	5641	c.5316G>A	c.(5314-5316)ccG>ccA	p.P1772P	DIDO1_ENST00000395343.1_Silent_p.P1772P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1772	Pro-rich.				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)					CCCTTGGTCCCGGGAAATTGG	0.632																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(5314-5316)ccG>ccA		death inducer-obliterator 1							51	61	58					20																	61511992		2203	4298	6501	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511992C>T	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.5316G>A	20.37:g.61511992C>T						DIDO1_ENST00000395343.1_Silent_p.P1772P	p.P1772P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5641	-	Breast(26;5.68e-08)		1772			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5316G>A	CCDS33506.1																																																																																				0.632	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		11	198	0	0	0	1	0	11	198					T	61511992	C	T	61511992	2	4	290	1	0	0	0	0	0	0	0	1	4522	639	23	1		1	DIDO1	20	61511992	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	31	61511992	1513528	43	30376			2	31		2	2	32	C		4.806591e-05
USP16	10600	broad.mit.edu	37	chr21	30419419	30419419	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaatatagagattctgaaTgatagtcatactcctggaac	7	6	2	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:30419419T>C	ENST00000334352.4	+	15	2019	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	USP16_ENST00000399976.2_Silent_p.N596N|USP16_ENST00000535828.1_Silent_p.N225N|USP16_ENST00000399975.3_Silent_p.N595N	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTCTGAATGATAGTCATA	0.378																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1786-1788)aaT>aaC		ubiquitin specific peptidase 16							85	89	88					21																	30419419		2203	4300	6503	SO:0001819	synonymous_variant	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419419T>C	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1788T>C	21.37:g.30419419T>C						USP16_ENST00000399976.2_Silent_p.N596N|USP16_ENST00000535828.1_Silent_p.N225N|USP16_ENST00000399975.3_Silent_p.N595N	p.N596N	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	2019	+			596						Silent	SNP	ENST00000334352.4	37	c.1788T>C	CCDS13583.1																																																																																				0.378	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			25	131	0	0	0	1	0	25	131					C	30419419	T	C	30419419	2	2	290	1	0	0	0	0	0	0	0	1	17044	1461	51	3		3	USP16	21	30419419	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		30419419	17710476	44	30377											
FRMPD4	9758	broad.mit.edu	37	chrX	12736148	12736148	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtaaatttggtactgTgtcttcacgagacagtcaac	10	8	3	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:12736148T>C	ENST00000380682.1	+	16	3709	c.3203T>C	c.(3202-3204)gTg>gCg	p.V1068A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1068					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTTGGTACTGTGTCTTCACGA	0.507																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3202-3204)gTg>gCg		FERM and PDZ domain containing 4							116	98	104					X																	12736148		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736148T>C	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3203T>C	X.37:g.12736148T>C	ENSP00000370057:p.Val1068Ala						p.V1068A	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3709	+			1068					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3203T>C	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238936	0.39598	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06142	3.34	5.49	5.49	0.81192	.	0.308092	0.31290	N	0.007908	T	0.07369	0.0186	L	0.44542	1.39	0.27836	N	0.941274	B;P	0.35174	0.339;0.488	B;B	0.30029	0.11;0.11	T	0.11494	-1.0585	10	0.52906	T	0.07	-11.8998	14.6555	0.68831	0.0:0.0:0.0:1.0	.	1060;1068	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	A	1068;1059;1057	ENSP00000370057:V1068A	ENSP00000304583:V1057A	V	+	2	0	FRMPD4	12646069	1.000000	0.71417	0.956000	0.39512	0.807000	0.45602	4.306000	0.59117	1.841000	0.53522	0.486000	0.48141	GTG		0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		7	157	0	0	0	1	0	7	157					C	12736148	T	C	12736148	3	2	290	1	0	0	0	0	1	0	0	0	6059	1696	59	3	3265	3	FRMPD4	23	12736148	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08		12736148	142534412	45	30378											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142309	49142309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggtttctgacgttcCgatgactggcaaccccgcag	11	14	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:49142309C>T	ENST00000055335.6	+	4	1173	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P57L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P40L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	386					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCTGACGTTCCGATGACTGGC	0.577																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1156-1158)cCg>cTg		protein phosphatase 1, regulatory subunit 3F							42	41	41					X																	49142309		2203	4300	6503	SO:0001583	missense	89801					integral to membrane		g.chrX:49142309C>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1157C>T	X.37:g.49142309C>T	ENSP00000055335:p.Pro386Leu					PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P57L	p.P386L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	1173	+	Ovarian(276;0.236)		386					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1157C>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	4.854	0.158749	0.09236	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.51817	1.12;1.12;0.69;1.12;1.12	5.27	3.45	0.39498	.	0.474638	0.17946	N	0.156696	T	0.29028	0.0721	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.20505	-1.0273	10	0.62326	D	0.03	1.3044	8.1842	0.31328	0.0:0.7989:0.0:0.2011	.	57;71;386	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	L	40;57;386;40;40	ENSP00000420687:P40L;ENSP00000415548:P57L;ENSP00000055335:P386L;ENSP00000417535:P40L;ENSP00000365359:P40L	ENSP00000055335:P386L	P	+	2	0	PPP1R3F	49029253	0.113000	0.22115	0.152000	0.22495	0.405000	0.30901	0.262000	0.18460	0.977000	0.38444	0.529000	0.55759	CCG		0.577	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		23	38	0	0	0	1	0	23	38					T	49142309	C	T	49142309	3	4	290	1	0	0	0	0	1	0	0	0	12375	652	23	1	1171	1	PPP1R3F	23	49142309	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	36406161	49142309	106128251	46	30379											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T													ttggctgtggtctcaatcagINStttttttgccttcttaatca							TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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						GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1072-1077)aatgatfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939673_76939674insT	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.1075dupA	X.37:g.76939680_76939680dupT	ENSP00000362441:p.Leu359fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.ND320fs	p.ND358fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1288_1289	-			358					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1074_1075insA	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	136						71	136	---	---	---	---	T	76939674	-	T	76939673	7	5	290	1	0	1	1	0	0	0	0	0	1208	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	27797364	76939673	78330887	47	30380											
SERPINA7	6906	broad.mit.edu	37	chrX	105280577	105280577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagtcggtagaaaagActtcagtctcatagagggtc	13	6	2	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:105280577A>G	ENST00000327674.4	-	1	808	c.473T>C	c.(472-474)gTc>gCc	p.V158A	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.V158A			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V158D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGTAGAAAAGACTTCAGTCTC	0.438																																						ENST00000327674.4																			1	Substitution - Missense(1)	p.V158D(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(472-474)gTc>gCc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						166	155	159					X																	105280577		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280577A>G	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.473T>C	X.37:g.105280577A>G	ENSP00000329374:p.Val158Ala					SERPINA7_ENST00000372563.1_Missense_Mutation_p.V158A	p.V158A			P05543	THBG_HUMAN			1	808	-			158					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.473T>C	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	0.891	-0.725510	0.03158	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.85484	-1.99;-1.99	4.7	2.36	0.29203	Serpin domain (3);	0.395100	0.23646	N	0.045961	T	0.60932	0.2307	N	0.04162	-0.26	0.09310	N	1	B	0.31730	0.337	B	0.33521	0.165	T	0.58352	-0.7651	10	0.02654	T	1	.	5.1423	0.14965	0.6673:0.0:0.3327:0.0	.	158	P05543	THBG_HUMAN	A	158	ENSP00000329374:V158A;ENSP00000361644:V158A	ENSP00000329374:V158A	V	-	2	0	SERPINA7	105167233	0.000000	0.05858	0.001000	0.08648	0.472000	0.32918	0.106000	0.15354	0.741000	0.32674	0.481000	0.45027	GTC		0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		15	281	0	0	0	1	0	15	281					G	105280577	A	G	105280577	3	3	290	1	0	0	0	0	1	0	0	0	14094	275	10	3	790	3	SERPINA7	23	105280577	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	28340904	105280577	49989983	48	30381											
HIVEP3	59269	broad.mit.edu	37	chr1	41990504	41990504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctgggcttcttgcagCgaattccacactcctcacaa	8	14	2	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:41990504C>T	ENST00000372583.1	-	6	6170	c.5285G>A	c.(5284-5286)cGc>cAc	p.R1762H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1762H|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1762H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1762H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1762	ZAS2.				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)				CTTCTTGCAGCGAATTCCACA	0.493																																						ENST00000372584.1																			0				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						c.(5284-5286)cGc>cAc		human immunodeficiency virus type I enhancer binding protein 3							180	142	155					1																	41990504		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990504C>T	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.5285G>A	1.37:g.41990504C>T	ENSP00000361664:p.Arg1762His					HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1762H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1762H|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1762H	p.R1762H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6299	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1762			ZAS2.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5285G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300234	0.95574	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000105	T	0.59555	0.2202	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65602	-0.6128	10	0.87932	D	0	-18.96	17.7486	0.88428	0.0:1.0:0.0:0.0	.	1762;1762	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	1762	ENSP00000361665:R1762H;ENSP00000361664:R1762H;ENSP00000247584:R1762H;ENSP00000410828:R1762H	ENSP00000247584:R1762H	R	-	2	0	HIVEP3	41763091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.520000	0.84964	0.561000	0.74099	CGC		0.493	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		19	94	0	0	0	1	0	19	94					T	41990504	C	T	41990504	3	4	291	1	0	0	0	0	1	0	0	0	7188	768	27	1	1951	1	HIVEP3	1	41990504	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		41990504	207260117	1	30382											
SELENBP1	8991	broad.mit.edu	37	chr1	151338898	151338898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatctcatggcgctgccaGtcccatacatataagtggct	8	12	1	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:151338898G>A	ENST00000368868.5	-	7	787	c.696C>T	c.(694-696)gaC>gaT	p.D232D	SELENBP1_ENST00000447402.3_Silent_p.D170D|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Silent_p.D168D|SELENBP1_ENST00000426705.2_Silent_p.D274D	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	232					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GGCGCTGCCAGTCCCATACAT	0.572																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(820-822)gaC>gaT		selenium binding protein 1							96	101	100					1																	151338898		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338898G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.696C>T	1.37:g.151338898G>A						SELENBP1_ENST00000435071.1_Silent_p.D168D|SELENBP1_ENST00000447402.3_Silent_p.D170D|SELENBP1_ENST00000368868.5_Silent_p.D232D	p.D274D	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	966	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		232					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.822C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923216	0.18056	.	.	ENSG00000143416	ENST00000424475	.	.	.	4.32	3.38	0.38709	.	.	.	.	.	T	0.45875	0.1364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42498	-0.9448	4	.	.	.	-23.8312	8.2268	0.31572	0.1877:0.0:0.8123:0.0	.	.	.	.	I	193	.	.	T	-	2	0	SELENBP1	149605522	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.408000	0.59761	2.239000	0.73571	0.407000	0.27541	ACT		0.572	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			6	178	0	0	0	1	0	6	178					A	151338898	G	A	151338898	2	1	291	1	0	0	0	0	0	0	0	1	14014	1020	36	2		2	SELENBP1	1	151338898	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08	109348394	151338898	97911723	2	30383											
PAPPA2	60676	broad.mit.edu	37	chr1	176668593	176668593	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatagagattgatgcagcacTcctgacttctcagccccaca	8	13	1	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:176668593T>A	ENST00000367662.3	+	8	4268	c.3104T>A	c.(3103-3105)cTc>cAc	p.L1035H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1035					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						GATGCAGCACTCCTGACTTCT	0.557																																						ENST00000367662.3																			0				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						c.(3103-3105)cTc>cAc		pappalysin 2							118	125	122					1																	176668593		2083	4233	6316	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668593T>A	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.3104T>A	1.37:g.176668593T>A	ENSP00000356634:p.Leu1035His						p.L1035H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	4268	+			1035					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3104T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375472	0.61735	.	.	ENSG00000116183	ENST00000367662	T	0.42513	0.97	5.38	5.38	0.77491	Fibronectin, type III (2);	0.055041	0.64402	D	0.000001	T	0.60881	0.2303	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.64753	-0.6333	10	0.87932	D	0	-24.0935	11.0642	0.47966	0.1388:0.0:0.0:0.8612	.	1035	Q9BXP8	PAPP2_HUMAN	H	1035	ENSP00000356634:L1035H	ENSP00000356634:L1035H	L	+	2	0	PAPPA2	174935216	1.000000	0.71417	0.993000	0.49108	0.589000	0.36550	5.472000	0.66768	2.254000	0.74563	0.533000	0.62120	CTC		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			9	159	0	0	0	1	0	9	159					A	176668593	T	A	176668593	3	1	291	1	0	0	0	0	1	0	0	0	11433	1551	54	5	3183	5	PAPPA2	1	176668593	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	25329695	176668593	72582028	3	30384											
USH2A	7399	broad.mit.edu	37	chr1	215960035	215960035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagagtacgtgtttacaCtccctgtatgaatggtttct	9	7	1	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:215960035C>T	ENST00000307340.3	-	52	10750	c.10364G>A	c.(10363-10365)aGt>aAt	p.S3455N	USH2A_ENST00000366943.2_Missense_Mutation_p.S3455N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3455	Fibronectin type-III 19. {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)		CGTGTTTACACTCCCTGTATG	0.433										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(10363-10365)aGt>aAt		Usher syndrome 2A (autosomal recessive, mild)							179	147	158					1																	215960035		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960035C>T	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.10364G>A	1.37:g.215960035C>T	ENSP00000305941:p.Ser3455Asn	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S3455N	p.S3455N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10750	-			3455			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10364G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.119722	0.00346	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13089	2.63;2.62	4.88	-0.445	0.12242	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.545549	0.16271	N	0.221792	T	0.08179	0.0204	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40961	-0.9535	10	0.14656	T	0.56	.	9.0954	0.36636	0.0:0.5484:0.0:0.4516	.	3455	O75445	USH2A_HUMAN	N	3455	ENSP00000305941:S3455N;ENSP00000355910:S3455N	ENSP00000305941:S3455N	S	-	2	0	USH2A	214026658	0.000000	0.05858	0.003000	0.11579	0.116000	0.19942	-0.092000	0.11129	0.024000	0.15214	-0.150000	0.13652	AGT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	89	0	0	0	1	0	13	89					T	215960035	C	T	215960035	3	4	291	1	0	0	0	0	1	0	0	0	17033	565	20	2	5328	2	USH2A	1	215960035	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	39291442	215960035	33290586	4	30385											
ATAD2B	54454	broad.mit.edu	37	chr2	23985167	23985167	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcgactctagtttctgtcttCcgagctccagtactatgagg	9	11	3	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:23985167C>G	ENST00000238789.5	-	24	3649	c.3306G>C	c.(3304-3306)cgG>cgC	p.R1102R	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1102						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGTCTTCCGAGCTCCAG	0.388																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(3304-3306)cgG>cgC		ATPase family, AAA domain containing 2B							197	168	177					2																	23985167		1878	4105	5983	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23985167C>G	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3306G>C	2.37:g.23985167C>G						ATAD2B_ENST00000474583.1_5'UTR	p.R1102R	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			24	3649	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1102					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.3306G>C	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	9.664	1.144804	0.21288	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.23	-2.53	0.06326	.	.	.	.	.	T	0.51924	0.1703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47724	-0.9095	4	.	.	.	.	8.199	0.31413	0.0:0.446:0.3382:0.2158	.	.	.	.	A	378	.	.	G	-	2	0	ATAD2B	23838671	0.966000	0.33281	0.991000	0.47740	0.998000	0.95712	-0.036000	0.12185	-0.336000	0.08438	0.655000	0.94253	GGA		0.388	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		5	22	0	0	0	1	0	5	22					G	23985167	C	G	23985167	2	3	291	1	0	0	0	0	0	0	0	1	1072	842	30	4		4	ATAD2B	2	23985167	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08		23985167	219214206	5	30386											
VWA3B	200403	broad.mit.edu	37	chr2	98744704	98744704	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccactgttttgcagatTgaatccatttactactttgt	7	9	0	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:98744704T>C	ENST00000477737.1	+	6	909	c.705T>C	c.(703-705)atT>atC	p.I235I	VWA3B_ENST00000435344.1_Silent_p.I235I|VWA3B_ENST00000451075.2_Silent_p.I85I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	235										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						TTTTGCAGATTGAATCCATTT	0.468																																						ENST00000477737.1																			0				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						c.(703-705)atT>atC		von Willebrand factor A domain containing 3B							237	234	235					2																	98744704		1936	4138	6074	SO:0001819	synonymous_variant	200403							g.chr2:98744704T>C	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.705T>C	2.37:g.98744704T>C						VWA3B_ENST00000435344.1_Silent_p.I235I|VWA3B_ENST00000451075.2_Silent_p.I85I	p.I235I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			6	909	+			235					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.705T>C	CCDS42718.1																																																																																				0.468	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	162	0	0	0	1	0	5	162					C	98744704	T	C	98744704	2	2	291	1	0	0	0	0	0	0	0	1	17238	1800	63	3		3	VWA3B	2	98744704	Silent	SNP	T	TCGA-HT-7902-01A-12D-2395-08	74759537	98744704	144454669	6	30387											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			12	52	0	0	0	1	0	12	52					T	209113112	C	T	209113112	3	4	291	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	110368408	209113112	34086261	7	30388											
PECR	55825	broad.mit.edu	37	chr2	216904042	216904042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccttcatctttttgaCaacagaaaggtcccctgctc	7	13	3	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:216904042C>T	ENST00000265322.7	-	8	942	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	290					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ATCTTTTTGACAACAGAAAGG	0.483																																						ENST00000265322.7																			0				endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(868-870)Gtc>Atc		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						145	142	143					2																	216904042		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216904042C>T	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18281	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 29C, member 1"	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.868G>A	2.37:g.216904042C>T	ENSP00000265322:p.Val290Ile						p.V290I	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	942	-		Renal(323;0.0327)	290					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.868G>A	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989918	0.54041	.	.	ENSG00000115425	ENST00000265322	D	0.83506	-1.73	5.38	4.49	0.54785	.	0.363223	0.30528	N	0.009436	T	0.74824	0.3767	N	0.19112	0.55	0.30114	N	0.806345	B;B	0.20459	0.012;0.045	B;B	0.36092	0.015;0.217	T	0.69247	-0.5195	10	0.30078	T	0.28	.	10.7675	0.46303	0.0:0.9102:0.0:0.0898	.	290;144	Q9BY49;Q9BY49-2	PECR_HUMAN;.	I	290	ENSP00000265322:V290I	ENSP00000265322:V290I	V	-	1	0	PECR	216612287	0.311000	0.24536	0.381000	0.26106	0.393000	0.30537	0.403000	0.20982	1.373000	0.46208	0.561000	0.74099	GTC		0.483	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		17	67	0	0	0	1	0	17	67					T	216904042	C	T	216904042	3	4	291	1	0	0	0	0	1	0	0	0	11717	478	17	2	47	2	PECR	2	216904042	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7790930	216904042	26295331	8	30389											
ECEL1	9427	broad.mit.edu	37	chr2	233348787	233348787	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagtggcgattggccTggcccaagcagacccgggcc	14	14	0	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:233348787T>G	ENST00000304546.1	-	7	1541	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q444P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	444					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCGATTGGCCTGGCCCAAGCA	0.617																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1330-1332)cAg>cCg		endothelin converting enzyme-like 1							75	79	78					2																	233348787		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233348787T>G	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1331A>C	2.37:g.233348787T>G	ENSP00000302051:p.Gln444Pro					ECEL1_ENST00000409941.1_Missense_Mutation_p.Q444P	p.Q444P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	7	1541	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	444					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1331A>C	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131228	0.56828	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.74737	-0.87;-0.87	5.33	4.15	0.48705	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.058041	0.64402	D	0.000001	T	0.79034	0.4378	M	0.64404	1.975	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.54815	0.61;0.761	T	0.78663	-0.2116	10	0.52906	T	0.07	-6.3215	11.5195	0.50543	0.1345:0.0:0.0:0.8655	.	444;444	O95672-2;O95672	.;ECEL1_HUMAN	P	444	ENSP00000302051:Q444P;ENSP00000386333:Q444P	ENSP00000302051:Q444P	Q	-	2	0	ECEL1	233057031	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.040000	0.89188	0.843000	0.35070	0.455000	0.32223	CAG		0.617	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		11	152	0	0	0	1	0	11	152					G	233348787	T	G	233348787	3	3	291	1	0	0	0	0	1	0	0	0	4891	1580	55	5	1044	5	ECEL1	2	233348787	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	16444745	233348787	9850586	9	30390											
RNPEPL1	57140	broad.mit.edu	37	chr2	241513688	241513688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcggcaacgctgtcaccaAcgccacgtgggaagagatgt	13	11	1	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:241513688A>G	ENST00000270357.4	+	5	997	c.404A>G	c.(403-405)aAc>aGc	p.N135S		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	135					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)		GCTGTCACCAACGCCACGTGG	0.632																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(403-405)aAc>aGc		arginyl aminopeptidase (aminopeptidase B)-like 1							96	81	86					2																	241513688		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513688A>G			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.404A>G	2.37:g.241513688A>G	ENSP00000270357:p.Asn135Ser						p.N135S	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		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)	5	997	+		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)	135					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.404A>G		.	.	.	.	.	.	.	.	.	.	a	17.11	3.306756	0.60305	.	.	ENSG00000142327	ENST00000270357	T	0.04917	3.53	5.05	3.9	0.45041	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	M	0.77712	2.385	0.45594	D	0.998539	D	0.56746	0.977	D	0.63877	0.919	T	0.00273	-1.1858	10	0.51188	T	0.08	-3.862	8.5815	0.33632	0.9067:0.0:0.0933:0.0	.	135	Q9HAU8	RNPL1_HUMAN	S	135	ENSP00000270357:N135S	ENSP00000270357:N135S	N	+	2	0	RNPEPL1	241162361	1.000000	0.71417	0.914000	0.36105	0.472000	0.32918	8.528000	0.90598	0.775000	0.33450	0.478000	0.44815	AAC		0.632	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		22	69	0	0	0	1	0	22	69					G	241513688	A	G	241513688	3	3	291	1	0	0	0	0	1	0	0	0	13510	43	2	3	414	3	RNPEPL1	2	241513688	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	8164901	241513688	1685685	10	30391											
DNAH1	25981	broad.mit.edu	37	chr3	52406256	52406256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggtgctgtgcattgGgccaacaggcacggggaaga	16	10	0	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:52406256G>T	ENST00000420323.2	+	43	6941	c.6680G>T	c.(6679-6681)gGg>gTg	p.G2227V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2227	AAA 3. {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)		CTGTGCATTGGGCCAACAGGC	0.612																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6679-6681)gGg>gTg		dynein, axonemal, heavy chain 1							59	64	62					3																	52406256		2140	4259	6399	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52406256G>T	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.6680G>T	3.37:g.52406256G>T	ENSP00000401514:p.Gly2227Val						p.G2227V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		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)	43	6941	+			2227			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6680G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883561	0.72410	.	.	ENSG00000114841	ENST00000420323	D	0.93604	-3.25	4.36	4.36	0.52297	.	0.000000	0.42420	U	0.000703	D	0.98182	0.9399	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99372	1.0920	10	0.87932	D	0	.	15.2404	0.73465	0.0:0.0:1.0:0.0	.	2227	C9JXH6	.	V	2227	ENSP00000401514:G2227V	ENSP00000401514:G2227V	G	+	2	0	DNAH1	52381296	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	9.239000	0.95389	2.271000	0.75665	0.467000	0.42956	GGG		0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	45	1	0	1	1	1	3	45					T	52406256	G	T	52406256	3	4	291	1	0	0	0	0	1	0	0	0	4597	1232	43	4	6846	4	DNAH1	3	52406256	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		52406256	145616174	11	30392											
PTPRG	5793	broad.mit.edu	37	chr3	62248553	62248553	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacaagcacaaaaacagataCatcaacattttagcatgtga	5	8	1	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:62248553C>G	ENST00000474889.1	+	17	3017	c.2640C>G	c.(2638-2640)taC>taG	p.Y880*	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000469148.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Y851*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	880	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAAACAGATACATCAACATTT	0.393																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2638-2640)taC>taG		protein tyrosine phosphatase, receptor type, G							141	127	132					3																	62248553		2203	4300	6503	SO:0001587	stop_gained	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62248553C>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2640C>G	3.37:g.62248553C>G	ENSP00000418112:p.Tyr880*					PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Y851*|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	p.Y880*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	17	3017	+			880			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	ENST00000474889.1	37	c.2640C>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	44	10.918276	0.99489	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8085	0.52169	0.0:0.8666:0.0:0.1334	.	.	.	.	X	880;851	.	ENSP00000295874:Y851X	Y	+	3	2	PTPRG	62223593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	2.857000	0.98124	0.650000	0.86243	TAC		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		4	29	0	0	0	1	0	4	29					G	62248553	C	G	62248553	4	3	291	1	0	0	0	0	0	1	0	0	12802	489	17	4	2706	4	PTPRG	3	62248553	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	9842297	62248553	135773877	12	30393											
ANXA3	306	broad.mit.edu	37	chr4	79512710	79512710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcagtatacaagaagaGtcttggagatgacattagtt	11	4	2	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr4:79512710G>T	ENST00000264908.6	+	7	795	c.416G>T	c.(415-417)aGt>aTt	p.S139I	ANXA3_ENST00000512884.1_Missense_Mutation_p.S100I|ANXA3_ENST00000503570.2_Missense_Mutation_p.S100I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	139					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACAAGAAGAGTCTTGGAGAT	0.338																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(415-417)aGt>aTt		annexin A3							119	124	122					4																	79512710		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79512710G>T	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"Annexins"	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.416G>T	4.37:g.79512710G>T	ENSP00000264908:p.Ser139Ile					ANXA3_ENST00000503570.2_Missense_Mutation_p.S100I|ANXA3_ENST00000512884.1_Missense_Mutation_p.S100I	p.S139I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			7	795	+			139					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.416G>T	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996882	0.74818	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000514171	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	4.95	4.1	0.47936	Annexin repeat, conserved site (1);	0.426684	0.26411	N	0.024540	T	0.19805	0.0476	M	0.89095	3.005	0.49130	D	0.999753	P	0.47106	0.89	P	0.54590	0.756	T	0.01524	-1.1333	10	0.62326	D	0.03	.	12.6985	0.57018	0.082:0.0:0.918:0.0	.	139	P12429	ANXA3_HUMAN	I	139;100;100;139	ENSP00000264908:S139I;ENSP00000423068:S100I;ENSP00000421015:S100I;ENSP00000421512:S139I	ENSP00000264908:S139I	S	+	2	0	ANXA3	79731734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.799000	0.47892	1.273000	0.44346	0.585000	0.79938	AGT		0.338	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		5	117	1	0	2.7689e-08	1	3.32268e-08	5	117					T	79512710	G	T	79512710	3	4	291	1	0	0	0	0	1	0	0	0	719	1029	36	4	438	4	ANXA3	4	79512710	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		79512710	111641566	13	30394											
PLCXD3	345557	broad.mit.edu	37	chr5	41313757	41313757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcaaagacatagttgaGctttatgacagtgctgataa	8	6	2	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr5:41313757G>T	ENST00000377801.3	-	3	1002	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.L310I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	310					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACATAGTTGAGCTTTATGACA	0.433																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(928-930)Ctc>Atc		phosphatidylinositol-specific phospholipase C, X domain containing 3							126	111	116					5																	41313757		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313757G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.928C>A	5.37:g.41313757G>T	ENSP00000367032:p.Leu310Ile					PLCXD3_ENST00000328457.3_Missense_Mutation_p.L310I	p.L310I			Q63HM9	PLCX3_HUMAN			3	1002	-			310					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.928C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110441	0.94292	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.121389	0.56097	D	0.000036	T	0.77336	0.4115	M	0.70275	2.135	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.73585	-0.3936	9	0.32370	T	0.25	-15.8859	19.7362	0.96205	0.0:0.0:1.0:0.0	.	310	Q63HM9	PLCX3_HUMAN	I	310	.	ENSP00000333751:L310I	L	-	1	0	PLCXD3	41349514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.395000	0.97266	2.678000	0.91216	0.655000	0.94253	CTC		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		4	73	1	0	2.56e-06	1	2.95385e-06	4	73					T	41313757	G	T	41313757	3	4	291	1	0	0	0	0	1	0	0	0	12043	971	34	4	41	4	PLCXD3	5	41313757	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		41313757	139601503	14	30395											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-													caaaagccgccttctgagccTtttgcctctgttgttcctcc							TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	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)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				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						c.(3412-3414)agfs		transcriptional regulating factor 1							245	274	264					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	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.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	656						7	656	---	---	---	---	-	42196333	T	-	42196333	7	5	291	1	0	1	0	1	0	0	0	0	16472	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-HT-7902-01A-12D-2395-08		42196333	128918734	15	30396											
MUC17	140453	broad.mit.edu	37	chr7	100677107	100677107	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatctcaactcctagtgaaGgaagtcctttattaacaagt	6	9	1	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr7:100677107G>T	ENST00000306151.4	+	3	2474	c.2410G>T	c.(2410-2412)Gga>Tga	p.G804*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	804	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)					TCCTAGTGAAGGAAGTCCTTT	0.478																																						ENST00000306151.4																			0				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						c.(2410-2412)Gga>Tga		mucin 17, cell surface associated							278	284	282					7																	100677107		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677107G>T	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.2410G>T	7.37:g.100677107G>T	ENSP00000302716:p.Gly804*						p.G804*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2474	+	Lung NSC(181;0.136)|all_lung(186;0.182)		804			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.2410G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433358	0.83776	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.08	-1.52	0.08637	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	5.1936	0.15223	0.6003:0.0:0.3997:0.0	.	.	.	.	X	804	.	ENSP00000302716:G804X	G	+	1	0	MUC17	100463827	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.265000	0.18515	-0.448000	0.07128	-1.368000	0.01194	GGA		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		22	524	1	0	3.73194e-20	1	4.56972e-20	22	524					T	100677107	G	T	100677107	4	4	291	1	0	0	0	0	0	1	0	0	9974	1001	35	4	2420	4	MUC17	7	100677107	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		100677107	58461556	16	30397											
ZNF485	220992	broad.mit.edu	37	chr10	44112250	44112250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgggaaagccttcgctcaGaatgcagctcttactcgtca	10	11	3	1	rs575365214		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr10:44112250G>T	ENST00000361807.3	+	5	953	c.759G>T	c.(757-759)caG>caT	p.Q253H	ZNF485_ENST00000374437.2_Missense_Mutation_p.Q162H|ZNF485_ENST00000374435.3_Missense_Mutation_p.Q253H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	253					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CCTTCGCTCAGAATGCAGCTC	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001					ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(757-759)caG>caT		zinc finger protein 485							71	75	74					10																	44112250		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112250G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.759G>T	10.37:g.44112250G>T	ENSP00000354694:p.Gln253His					ZNF485_ENST00000374435.3_Missense_Mutation_p.Q253H|ZNF485_ENST00000374437.2_Missense_Mutation_p.Q162H	p.Q253H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	953	+			253					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.759G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.439751	0.01098	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.05513	3.43;3.43;3.43	2.46	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	N	0.25957	0.775	0.09310	N	1	B	0.27013	0.166	B	0.35353	0.201	T	0.47749	-0.9093	9	0.09843	T	0.71	.	3.7097	0.08414	0.15:0.2644:0.5857:0.0	.	253	Q8NCK3	ZN485_HUMAN	H	253;162;253	ENSP00000354694:Q253H;ENSP00000363560:Q162H;ENSP00000363558:Q253H	ENSP00000354694:Q253H	Q	+	3	2	ZNF485	43432256	0.000000	0.05858	0.007000	0.13788	0.066000	0.16364	-1.278000	0.02809	0.572000	0.29383	0.462000	0.41574	CAG		0.398	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		4	79	1	0	0.000602214	1	0.000656961	4	79					T	44112250	G	T	44112250	3	4	291	1	0	0	0	0	1	0	0	0	17935	933	33	4	773	4	ZNF485	10	44112250	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		44112250	91422497	17	30398											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagagccacagccccccttgGagcccccacaggagccacaa	9	18	0	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(313-315)tCc>tGc		keratin associated protein 5-1							35	50	45					11																	1606166		2143	4251	6394	SO:0001583	missense	387264					keratin filament		g.chr11:1606166G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.314C>G	11.37:g.1606166G>C	ENSP00000371606:p.Ser105Cys					KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	p.S105C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	347	-		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)	105			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.314C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543703	0.04053	.	.	ENSG00000205869	ENST00000382171	T	0.04603	3.59	3.68	-4.47	0.03525	.	.	.	.	.	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36187	-0.9758	9	0.72032	D	0.01	.	18.0282	0.89275	0.0:0.7506:0.2494:0.0	.	105	Q6L8H4	KRA51_HUMAN	C	105	ENSP00000371606:S105C	ENSP00000371606:S105C	S	-	2	0	KRTAP5-1	1562742	0.023000	0.18921	0.001000	0.08648	0.004000	0.04260	0.000000	0.12993	-0.646000	0.05452	-0.643000	0.03959	TCC		0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		4	84	0	0	0	1	0	4	84					C	1606166	G	C	1606166	3	2	291	1	0	0	0	0	1	0	0	0	8558	1174	41	4	526	4	KRTAP5-1	11	1606166	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		1606166	133400350	18	30399											
OR4C16	219428	broad.mit.edu	37	chr11	55339753	55339753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattagtgtcaagaccagCcaggcacttaagaacccaat	7	10	1	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:55339753C>T	ENST00000314634.3	+	1	150	c.150C>T	c.(148-150)agC>agT	p.S50S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	50						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)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAAGACCAGCCAGGCACTTA	0.388																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(148-150)agC>agT		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							258	239	245					11																	55339753		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339753C>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.150C>T	11.37:g.55339753C>T							p.S50S	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	150	+		all_epithelial(135;0.0748)	50					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.150C>T	CCDS31502.1																																																																																				0.388	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		35	96	0	0	0	1	0	35	96					T	55339753	C	T	55339753	2	4	291	1	0	0	0	0	0	0	0	1	11049	738	26	2		2	OR4C16	11	55339753	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08	53733587	55339753	79666763	19	30400											
MS4A14	84689	broad.mit.edu	37	chr11	60164158	60164158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcatagctctctgctggAttttctgaagggagagccaa	10	10	3	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:60164158A>G	ENST00000300187.6	+	1	384	c.107A>G	c.(106-108)gAt>gGt	p.D36G	MS4A14_ENST00000395005.2_Missense_Mutation_p.D36G|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.D36G	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	36						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCTCTGCTGGATTTTCTGAAG	0.443																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(106-108)gAt>gGt		membrane-spanning 4-domains, subfamily A, member 14							88	76	80					11																	60164158		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60164158A>G	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.107A>G	11.37:g.60164158A>G	ENSP00000300187:p.Asp36Gly					MS4A14_ENST00000531783.1_Missense_Mutation_p.D36G|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.D36G|MS4A14_ENST00000531787.1_Intron	p.D36G	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			1	384	+			36					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.107A>G	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325012	0.41197	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.32023	2.74;1.47;1.5;3.08	4.85	4.85	0.62838	.	0.712513	0.13633	N	0.373588	T	0.39627	0.1085	N	0.20986	0.625	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72338	0.977;0.949	T	0.10894	-1.0610	10	0.46703	T	0.11	-7.1644	10.7622	0.46272	1.0:0.0:0.0:0.0	.	36;36	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	G	36	ENSP00000300187:D36G;ENSP00000378453:D36G;ENSP00000435764:D36G;ENSP00000433761:D36G	ENSP00000300187:D36G	D	+	2	0	MS4A14	59920734	0.935000	0.31712	0.956000	0.39512	0.825000	0.46686	2.389000	0.44407	2.035000	0.60131	0.533000	0.62120	GAT		0.443	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			5	36	0	0	0	1	0	5	36					G	60164158	A	G	60164158	3	3	291	1	0	0	0	0	1	0	0	0	9858	333	12	3	109	3	MS4A14	11	60164158	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	4824405	60164158	74842358	20	30401											
MARK2	2011	broad.mit.edu	37	chr11	63668064	63668064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtactgaggggaaaatacCgtattccattctacatgtcc	10	9	1	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:63668064C>T	ENST00000509502.2	+	9	1166	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	MARK2_ENST00000377810.3_Missense_Mutation_p.R235C|MARK2_ENST00000425897.2_Missense_Mutation_p.R235C|MARK2_ENST00000377809.4_Missense_Mutation_p.R268C|MARK2_ENST00000350490.7_Missense_Mutation_p.R268C|MARK2_ENST00000361128.5_Missense_Mutation_p.R268C|MARK2_ENST00000402010.2_Missense_Mutation_p.R268C|MARK2_ENST00000502399.3_Missense_Mutation_p.R268C|MARK2_ENST00000408948.3_Missense_Mutation_p.R235C|MARK2_ENST00000315032.8_Missense_Mutation_p.R268C|MARK2_ENST00000508192.1_Missense_Mutation_p.R268C|MARK2_ENST00000513765.2_Missense_Mutation_p.R235C|MARK2_ENST00000413835.2_Missense_Mutation_p.R268C	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R235S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGAAAATACCGTATTCCATT	0.468																																						ENST00000402010.2																			1	Substitution - Missense(1)	p.R235S(1)	lung(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(802-804)Cgt>Tgt		MAP/microtubule affinity-regulating kinase 2							167	191	183					11																	63668064		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668064C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.703C>T	11.37:g.63668064C>T	ENSP00000423974:p.Arg235Cys					MARK2_ENST00000502399.3_Missense_Mutation_p.R268C|MARK2_ENST00000361128.5_Missense_Mutation_p.R268C|MARK2_ENST00000513765.2_Missense_Mutation_p.R235C|MARK2_ENST00000377809.4_Missense_Mutation_p.R268C|MARK2_ENST00000377810.3_Missense_Mutation_p.R235C|MARK2_ENST00000408948.3_Missense_Mutation_p.R235C|MARK2_ENST00000508192.1_Missense_Mutation_p.R268C|MARK2_ENST00000350490.7_Missense_Mutation_p.R268C|MARK2_ENST00000413835.2_Missense_Mutation_p.R268C|MARK2_ENST00000315032.8_Missense_Mutation_p.R268C|MARK2_ENST00000509502.2_Missense_Mutation_p.R235C|MARK2_ENST00000425897.2_Missense_Mutation_p.R235C	p.R268C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			9	1381	+			268			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.802C>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136559	0.77662	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.17	5.17	0.71159	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	0.76997	0.4066	L	0.45137	1.4	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;P	0.81914	0.995;0.929;0.978;0.986;0.994;0.875	T	0.78797	-0.2063	10	0.87932	D	0	.	17.5918	0.87999	0.0:1.0:0.0:0.0	.	235;235;268;268;268;268	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	C	268;268;268;268;235;268;268;268;268;235;235;235;235	ENSP00000385751:R268C;ENSP00000326632:R268C;ENSP00000367040:R268C;ENSP00000389184:R268C;ENSP00000367041:R235C;ENSP00000425765:R268C;ENSP00000355091:R268C;ENSP00000294247:R268C;ENSP00000423974:R235C;ENSP00000421075:R235C;ENSP00000386128:R235C;ENSP00000415494:R235C	ENSP00000326632:R268C	R	+	1	0	MARK2	63424640	1.000000	0.71417	0.992000	0.48379	0.880000	0.50808	1.385000	0.34408	2.685000	0.91497	0.557000	0.71058	CGT		0.468	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		6	350	0	0	0	1	0	6	350					T	63668064	C	T	63668064	3	4	291	1	0	0	0	0	1	0	0	0	9313	652	23	1	836	1	MARK2	11	63668064	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	3503906	63668064	71338452	21	30402											
C11orf30	56946	broad.mit.edu	37	chr11	76255366	76255366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaactgaggagggcgagGttgaagagatggacacttta	16	4	0	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:76255366G>A	ENST00000529032.1	+	18	2773	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	C11orf30_ENST00000524490.1_Missense_Mutation_p.V827I|C11orf30_ENST00000343878.3_Missense_Mutation_p.V925I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V925I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V926I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V940I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V834I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V926I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	925					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						GGAGGGCGAGGTTGAAGAGAT	0.463																																						ENST00000529032.1																			0				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						c.(2773-2775)Gtt>Att		chromosome 11 open reading frame 30							117	99	105					11																	76255366		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255366G>A	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.2773G>A	11.37:g.76255366G>A	ENSP00000432327:p.Val925Ile					C11orf30_ENST00000334736.3_Missense_Mutation_p.V925I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V827I|C11orf30_ENST00000343878.3_Missense_Mutation_p.V925I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V940I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V926I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V926I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V834I	p.V925I			Q7Z589	EMSY_HUMAN			18	2773	+			925					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2773G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374830	0.42105	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000524451;ENST00000532719	.	.	.	6.03	6.03	0.97812	.	0.197480	0.45606	D	0.000348	T	0.64875	0.2638	L	0.27053	0.805	0.46798	D	0.999203	P;P;P;P;P;P;P	0.50156	0.932;0.767;0.767;0.919;0.807;0.767;0.807	P;B;B;B;B;B;B	0.61592	0.891;0.344;0.344;0.444;0.294;0.344;0.294	T	0.58423	-0.7639	9	0.30078	T	0.28	-8.0454	20.5666	0.99351	0.0:0.0:1.0:0.0	.	834;926;940;279;926;827;925	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	I	827;925;925;607;940;834;926;926;925;197;65	.	ENSP00000334130:V925I	V	+	1	0	C11orf30	75933014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.369000	0.59511	2.854000	0.98071	0.655000	0.94253	GTT		0.463	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		4	86	0	0	0	1	0	4	86					A	76255366	G	A	76255366	3	1	291	1	0	0	0	0	1	0	0	0	1636	1261	44	2	2843	2	C11orf30	11	76255366	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	12587302	76255366	58751150	22	30403											
SLC2A14	144195	broad.mit.edu	37	chr12	7984329	7984329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggcatttgccttgtccGtcaaagttttattgataaat	10	6	1	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:7984329G>A	ENST00000543909.1	-	9	971	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T71M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T86M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T48M|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T48M|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	71					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCCTTGTCCGTCAAAGTTTT	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(211-213)aCg>aTg		solute carrier family 2 (facilitated glucose transporter), member 14							102	96	98					12																	7984329		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984329G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.212C>T	12.37:g.7984329G>A	ENSP00000440480:p.Thr71Met		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000340749.5_Missense_Mutation_p.T48M|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T71M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T86M|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T48M	p.T71M			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	971	-			71					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.212C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	7.211	0.595377	0.13875	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916	D;D;D;D;D;D;D;D;D;D;T	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-0.85	3.6	-5.46	0.02608	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.095130	0.06835	N	0.794707	T	0.57036	0.2026	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.17098	0.001;0.003;0.017	T	0.41360	-0.9513	10	0.33940	T	0.23	.	1.0447	0.01567	0.2816:0.0945:0.2904:0.3335	.	86;48;71	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	M	48;71;48;71;86;48;48;48;71;71;48	ENSP00000340450:T48M;ENSP00000440480:T71M;ENSP00000407287:T48M;ENSP00000379834:T71M;ENSP00000445929:T86M;ENSP00000440043:T48M;ENSP00000438312:T48M;ENSP00000443217:T48M;ENSP00000440044:T71M;ENSP00000437653:T71M;ENSP00000442402:T48M	ENSP00000340450:T48M	T	-	2	0	SLC2A14	7875596	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.226000	0.09139	-0.955000	0.03636	-1.691000	0.00728	ACG		0.448	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		4	100	0	0	0	1	0	4	100					A	7984329	G	A	7984329	3	1	291	1	0	0	0	0	1	0	0	0	14543	1145	40	1	1382	1	SLC2A14	12	7984329	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		7984329	125867566	23	30404											
GPRC5D	55507	broad.mit.edu	37	chr12	13103216	13103216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtagcagaattgtgaccaCgatgccaagtatggccaggg	14	8	0	2	rs201926763		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:13103216C>T	ENST00000228887.1	-	1	102	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	RP11-392P7.6_ENST00000394742.3_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V35M|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATTGTGACCACGATGCCAAGT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20773	0.001		0.0	False		,,,				2504	0.0					ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(103-105)Gtg>Atg		G protein-coupled receptor, family C, group 5, member D							109	100	103					12																	13103216		2203	4300	6503	SO:0001583	missense	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13103216C>T	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.103G>A	12.37:g.13103216C>T	ENSP00000228887:p.Val35Met					RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V35M|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA	p.V35M	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	102	-		Prostate(47;0.183)	35					Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	c.103G>A	CCDS8658.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.92	3.507559	0.64410	.	.	ENSG00000111291	ENST00000228887;ENST00000396333;ENST00000541128	D;D;D	0.89617	-2.54;-2.54;-2.54	6.17	5.29	0.74685	GPCR, family 3, C-terminal (1);	0.382625	0.24463	N	0.038302	D	0.92629	0.7658	M	0.78456	2.415	0.19575	N	0.999965	D	0.64830	0.994	P	0.59703	0.862	D	0.86787	0.1983	10	0.49607	T	0.09	.	11.4171	0.49958	0.0:0.7703:0.1589:0.0707	.	35	Q9NZD1	GPC5D_HUMAN	M	35	ENSP00000228887:V35M;ENSP00000379624:V35M;ENSP00000440530:V35M	ENSP00000228887:V35M	V	-	1	0	GPRC5D	12994483	0.927000	0.31430	0.995000	0.50966	0.854000	0.48673	1.383000	0.34385	1.635000	0.50512	0.655000	0.94253	GTG		0.532	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			22	114	0	0	0	1	0	22	114					T	13103216	C	T	13103216	3	4	291	1	0	0	0	0	1	0	0	0	6727	536	19	1	944	1	GPRC5D	12	13103216	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	5118887	13103216	120748679	24	30405											
FLJ10357	55701	broad.mit.edu	37	chr14	21552188	21552188	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagacctgctggccgtGgaggcggtgcgtggctgtga	20	9	0	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr14:21552188G>T	ENST00000298694.4	+	17	3895	c.3768G>T	c.(3766-3768)gtG>gtT	p.V1256V	ARHGEF40_ENST00000298693.3_Silent_p.V1256V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1256						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCTGGCCGTGGAGGCGGTGC	0.652																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(3766-3768)gtG>gtT		Rho guanine nucleotide exchange factor (GEF) 40							15	18	17					14																	21552188		2199	4300	6499	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21552188G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3768G>T	14.37:g.21552188G>T						ARHGEF40_ENST00000298693.3_Silent_p.V1256V	p.V1256V			Q8TER5	ARH40_HUMAN			17	3895	+			1256					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.3768G>T	CCDS32041.1																																																																																				0.652	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			3	23	1	0	1	1	1	3	23					T	21552188	G	T	21552188	2	4	291	1	0	0	0	0	0	0	0	1	5926	1335	47	4		4	FLJ10357	14	21552188	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08		21552188	85797352	25	30406											
NKX2-1	7080	broad.mit.edu	37	chr14	36988289	36988289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcagctcgctcatgttgcCcaggttgccgttgcagtagc	13	13	1	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr14:36988289C>A	ENST00000518149.1	-	2	879	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G122C|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G92C|NKX2-1_ENST00000522719.2_Missense_Mutation_p.G92C			P43699	NKX21_HUMAN	NK2 homeobox 1	92					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCATGTTGCCCAGGTTGCCG	0.721			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(274-276)Ggc>Tgc		NK2 homeobox 1							10	15	13					14																	36988289		2088	4220	6308	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988289C>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.274G>T	14.37:g.36988289C>A	ENSP00000428341:p.Gly92Cys					NKX2-1_ENST00000522719.2_Missense_Mutation_p.G92C|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G92C|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G122C	p.G92C			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	879	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		92					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.274G>T	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366106	0.61513	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.91631	-2.88;-2.84;-2.84;-2.84	4.7	3.72	0.42706	.	0.056339	0.64402	D	0.000001	D	0.95532	0.8548	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.68483	0.958;0.817	D	0.95130	0.8254	10	0.52906	T	0.07	.	12.3252	0.55007	0.0:0.9038:0.0:0.0962	.	122;92	P43699-3;P43699	.;NKX21_HUMAN	C	122;92;92;92	ENSP00000346879:G122C;ENSP00000429607:G92C;ENSP00000428341:G92C;ENSP00000429519:G92C	ENSP00000346879:G122C	G	-	1	0	NKX2-1	36058040	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.215000	0.65241	2.442000	0.82660	0.455000	0.32223	GGC		0.721	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		5	23	1	0	0.184627	1	0.190994	5	23					A	36988289	C	A	36988289	3	1	291	1	0	0	0	0	1	0	0	0	10449	623	22	4	849	4	NKX2-1	14	36988289	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	15436101	36988289	70361251	26	30407											
TGM5	9333	broad.mit.edu	37	chr15	43545093	43545093	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtctgtgtaattctcactCcagtttccattgagcacccc	6	15	2	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:43545093C>T	ENST00000220420.5	-	6	733	c.726G>A	c.(724-726)tgG>tgA	p.W242*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.W160*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	242					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTCTCACTCCAGTTTCCAT	0.532																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(724-726)tgG>tgA		transglutaminase 5	L-Glutamine(DB00130)						90	78	82					15																	43545093		2202	4299	6501	SO:0001587	stop_gained	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545093C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.726G>A	15.37:g.43545093C>T	ENSP00000220420:p.Trp242*					TGM5_ENST00000349114.4_Nonsense_Mutation_p.W160*	p.W242*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	733	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	242					O43549|Q0VF40|Q9UEZ4	Nonsense_Mutation	SNP	ENST00000220420.5	37	c.726G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026503	0.93518	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0189	15.3576	0.74440	0.0:1.0:0.0:0.0	.	.	.	.	X	242;160;241	.	ENSP00000220420:W242X	W	-	3	0	TGM5	41332385	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.477000	0.81069	2.281000	0.76405	0.561000	0.74099	TGG		0.532	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		15	72	0	0	0	1	0	15	72					T	43545093	C	T	43545093	4	4	291	1	0	0	0	0	0	1	0	0	15830	856	30	2	1468	2	TGM5	15	43545093	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		43545093	58986299	27	30408											
SYNM	23336	broad.mit.edu	37	chr15	99673028	99673028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtgtgtctgaccgtgGttcctggagagacgcggaca	15	10	2	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:99673028G>T	ENST00000560674.1	+	5	3138	c.2669G>T	c.(2668-2670)gGt>gTt	p.G890V	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.G1487V|SYNM_ENST00000328642.7_Missense_Mutation_p.G1175V			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1488	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGACCGTGGTTCCTGGAGA	0.567																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4459-4461)gGt>gTt		synemin, intermediate filament protein							128	134	132					15																	99673028		2022	4187	6209	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673028G>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2669G>T	15.37:g.99673028G>T	ENSP00000453040:p.Gly890Val					SYNM_ENST00000328642.7_Missense_Mutation_p.G1175V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.G890V	p.G1487V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4580	+			1488			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.4460G>T		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913836	0.52439	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;D	0.85484	2.43;-1.99	4.94	1.98	0.26296	.	.	.	.	.	D	0.88463	0.6443	.	.	.	0.09310	N	1	D;P	0.76494	0.999;0.62	D;B	0.63488	0.915;0.142	T	0.77191	-0.2678	8	0.87932	D	0	.	3.8769	0.09061	0.0759:0.2527:0.4125:0.2588	.	1488;1175	O15061;C9JIE4	SYNEM_HUMAN;.	V	1487;1175	ENSP00000336775:G1487V;ENSP00000330469:G1175V	ENSP00000330469:G1175V	G	+	2	0	SYNM	97490551	0.049000	0.20398	0.001000	0.08648	0.618000	0.37518	0.779000	0.26746	0.248000	0.21435	0.655000	0.94253	GGT		0.567	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		11	181	1	0	1.58986e-06	1	1.87043e-06	11	181					T	99673028	G	T	99673028	3	4	291	1	0	0	0	0	1	0	0	0	15452	1261	44	4	4476	4	SYNM	15	99673028	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	56127935	99673028	2858364	28	30409											
CACNG3	10368	broad.mit.edu	37	chr16	24372952	24372952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaggcggtcaagttctcgctCcaccgagcccagatcccgag	12	15	2	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:24372952C>A	ENST00000005284.3	+	4	1918	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	239					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGTTCTCGCTCCACCGAGCCC	0.577																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(715-717)tCc>tAc		calcium channel, voltage-dependent, gamma subunit 3							92	93	93					16																	24372952		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372952C>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.716C>A	16.37:g.24372952C>A	ENSP00000005284:p.Ser239Tyr						p.S239Y	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1918	+			239						Missense_Mutation	SNP	ENST00000005284.3	37	c.716C>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.228782	0.79576	.	.	ENSG00000006116	ENST00000005284	T	0.60299	0.2	4.95	4.95	0.65309	.	0.114681	0.64402	D	0.000010	T	0.76543	0.4002	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78605	-0.2139	10	0.49607	T	0.09	-21.2314	17.8274	0.88669	0.0:1.0:0.0:0.0	.	239	O60359	CCG3_HUMAN	Y	239	ENSP00000005284:S239Y	ENSP00000005284:S239Y	S	+	2	0	CACNG3	24280453	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.485000	0.81204	2.270000	0.75569	0.651000	0.88453	TCC		0.577	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		8	106	1	0	0.000442599	1	0.000501056	8	106					A	24372952	C	A	24372952	3	1	291	1	0	0	0	0	1	0	0	0	2558	855	30	4	730	4	CACNG3	16	24372952	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		24372952	65981801	29	30410											
C16orf46	123775	broad.mit.edu	37	chr16	81095242	81095242	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccacatccagcaccttctCttctgactgcaagaaagagt	6	13	2	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:81095242C>A	ENST00000299578.5	-	4	947	c.712G>T	c.(712-714)Gag>Tag	p.E238*	C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Nonsense_Mutation_p.E238*|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	238						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGCACCTTCTCTTCTGACTGC	0.478																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(712-714)Gag>Tag		chromosome 16 open reading frame 46							147	141	143					16																	81095242		2202	4300	6502	SO:0001587	stop_gained	123775							g.chr16:81095242C>A	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.712G>T	16.37:g.81095242C>A	ENSP00000299578:p.Glu238*					RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Nonsense_Mutation_p.E238*	p.E238*	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	827	-			238					Q96MA7	Nonsense_Mutation	SNP	ENST00000299578.5	37	c.712G>T	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624563	0.46840	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	.	.	.	5.55	3.6	0.41247	.	0.299401	0.28677	N	0.014506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5545	0.39330	0.0:0.8352:0.0:0.1648	.	.	.	.	X	238	.	ENSP00000299578:E238X	E	-	1	0	C16orf46	79652743	0.942000	0.31987	0.989000	0.46669	0.179000	0.23085	1.583000	0.36579	0.707000	0.31934	0.462000	0.41574	GAG		0.478	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		5	276	1	0	0.014758	1	0.0155347	5	276					A	81095242	C	A	81095242	4	1	291	1	0	0	0	0	0	1	0	0	1815	922	32	4	507	4	C16orf46	16	81095242	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	56722290	81095242	9259511	30	30411											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	45	0	0	0	1	0	5	45					C	7578190	T	C	7578190	3	2	291	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08		7578190	73617020	31	30412											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	13	15	2	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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						c.(526-528)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>T	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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	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)				TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	659	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	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;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	61	0	0	0	1	0	16	61					T	7578403	C	T	7578403	3	4	291	1	0	0	0	0	1	0	0	0	16378	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	213	7578403	73616807	32	30413											
ZNF287	57336	broad.mit.edu	37	chr17	16456736	16456736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcttgggctttagtttcCcattctgaaataaaaaatat	6	7	1	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:16456736C>A	ENST00000395824.1	-	6	1337	c.720G>T	c.(718-720)tgG>tgT	p.W240C	ZNF287_ENST00000395825.3_Missense_Mutation_p.W240C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	233					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTAGTTTCCCATTCTGaaa	0.318																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(718-720)tgG>tgT		zinc finger protein 287							53	54	54					17																	16456736		2084	4221	6305	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456736C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.720G>T	17.37:g.16456736C>A	ENSP00000379168:p.Trp240Cys					ZNF287_ENST00000395825.3_Missense_Mutation_p.W240C	p.W240C			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1337	-			233					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.720G>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	0.418	-0.909947	0.02434	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.06371	3.31;3.31	4.35	2.32	0.28847	.	0.301150	0.24604	N	0.037119	T	0.03871	0.0109	N	0.24115	0.695	0.45806	D	0.998684	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.49607	T	0.09	.	3.0642	0.06209	0.1836:0.5415:0.178:0.0969	.	233	Q9HBT7	ZN287_HUMAN	C	240	ENSP00000379169:W240C;ENSP00000379168:W240C	ENSP00000379168:W240C	W	-	3	0	ZNF287	16397461	0.000000	0.05858	0.977000	0.42913	0.327000	0.28475	0.224000	0.17738	0.756000	0.33013	-0.237000	0.12165	TGG		0.318	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			5	102	1	0	0.000602214	1	0.000656961	5	102					A	16456736	C	A	16456736	3	1	291	1	0	0	0	0	1	0	0	0	17822	624	22	4	1569	4	ZNF287	17	16456736	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	8878333	16456736	64738474	33	30414											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	12	14	1	2	rs149195822		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000309185.3_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.R435H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCACGGGCGCATTTCCCGT	0.622																																						ENST00000309156.4																			1	Substitution - Missense(1)	p.R435H(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1303-1305)cGc>cAc		growth factor receptor-bound protein 7		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	103	108	106		1304,1373,1304,1304	4.2	1	17	dbSNP_134	106	0,8600		0,0,4300	yes	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	29,29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	435/533,458/556,435/533,435/533	37902199	2,13004	2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902199G>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1304G>A	17.37:g.37902199G>A	ENSP00000310771:p.Arg435His					GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron	p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1561	+	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)		435			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1304G>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338073	0.41398	4.54E-4	0.0	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.21	4.24	0.50183	SH2 motif (5);	0.106801	0.64402	D	0.000004	D	0.84844	0.5562	L	0.48935	1.535	0.80722	D	1	B	0.20261	0.043	B	0.25987	0.065	T	0.80926	-0.1164	10	0.51188	T	0.08	-21.3321	9.6741	0.40030	0.1692:0.0:0.8308:0.0	.	435	Q14451	GRB7_HUMAN	H	435;435;435;458	ENSP00000310771:R435H;ENSP00000377761:R435H;ENSP00000377759:R435H;ENSP00000403459:R458H	ENSP00000310771:R435H	R	+	2	0	GRB7	35155725	0.990000	0.36364	0.998000	0.56505	0.072000	0.16883	4.130000	0.57964	1.200000	0.43188	0.655000	0.94253	CGC		0.622	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		5	291	0	0	0	1	0	5	291					A	37902199	G	A	37902199	3	1	291	1	0	0	0	0	1	0	0	0	6759	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	21445463	37902199	43293011	34	30415											
GZMM	3004	broad.mit.edu	37	chr19	549133	549133	+	Frame_Shift_Del	DEL	C	C	-													cttctggaacggcagcctctCccccagcatggtctgcctgg					rs373974834		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:549133delC	ENST00000264553.3	+	4	598	c.560delC	c.(559-561)tccfs	p.S187fs		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	187	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		GGCAGCCTCTCCCCCAGCATG	0.706																																						ENST00000264553.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(559-561)tcfs		granzyme M (lymphocyte met-ase 1)							12	9	10					19																	549133		2157	4212	6369	SO:0001589	frameshift_variant	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:549133delC		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.560delC	19.37:g.549133delC	ENSP00000264553:p.Ser187fs						p.S187fs	NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_HUMAN		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)	4	598	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)	187			Peptidase S1.			Frame_Shift_Del	DEL	ENST00000264553.3	37	c.560delC	CCDS12031.1																																																																																				0.706	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		2	4						2	4	---	---	---	---	-	549133	C	-	549133	7	5	291	1	0	1	0	1	0	0	0	0	6919	855	30	0	574	0	GZMM	19	549133	Frame_Shift_Del	DEL	C	TCGA-HT-7902-01A-12D-2395-08		549133	58579850	35	30416											
TIMM44	10469	broad.mit.edu	37	chr19	7997604	7997604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaggatctccgtgagcaCctccgacatctctgtcttgg	11	14	3	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:7997604C>T	ENST00000270538.3	-	9	1163	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	299					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCCGTGAGCACCTCCGACATC	0.652																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(895-897)Gtg>Atg		translocase of inner mitochondrial membrane 44 homolog (yeast)							59	62	61					19																	7997604		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7997604C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.895G>A	19.37:g.7997604C>T	ENSP00000270538:p.Val299Met						p.V299M	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			9	1163	-			299					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.895G>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736547	0.89482	.	.	ENSG00000104980	ENST00000270538	T	0.77877	-1.13	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89874	0.4025	10	0.62326	D	0.03	-30.3963	16.2918	0.82756	0.0:1.0:0.0:0.0	.	299	O43615	TIM44_HUMAN	M	299	ENSP00000270538:V299M	ENSP00000270538:V299M	V	-	1	0	TIMM44	7903604	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.124000	0.77185	2.529000	0.85273	0.561000	0.74099	GTG		0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			18	95	0	0	0	1	0	18	95					T	7997604	C	T	7997604	3	4	291	1	0	0	0	0	1	0	0	0	15909	507	18	2	483	2	TIMM44	19	7997604	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7448471	7997604	51131379	36	30417											
MUC16	94025	broad.mit.edu	37	chr19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatatctgggaactttGttgactgagcaggagttggt	13	4	1	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:9073488G>T	ENST00000397910.4	-	3	14161	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4655	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						TGGGAACTTTGTTGACTGAGC	0.458																																						ENST00000397910.4																			0				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						c.(13957-13959)aCa>aAa		mucin 16, cell surface associated							114	110	111					19																	9073488		1898	4114	6012	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073488G>T	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.13958C>A	19.37:g.9073488G>T	ENSP00000381008:p.Thr4653Lys						p.T4653K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14161	-			4655			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13958C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.527	-0.096451	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.79	-0.602	0.11634	.	.	.	.	.	T	0.03095	0.0091	L	0.28115	0.83	.	.	.	P	0.44344	0.833	P	0.47744	0.556	T	0.40664	-0.9551	8	0.87932	D	0	.	3.017	0.06063	0.1907:0.2904:0.5189:0.0	.	4653	B5ME49	.	K	4653	ENSP00000381008:T4653K	ENSP00000381008:T4653K	T	-	2	0	MUC16	8934488	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.936000	0.28938	-0.081000	0.12662	0.313000	0.20887	ACA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	119	1	0	0.00307968	1	0.00329966	8	119					T	9073488	G	T	9073488	3	4	291	1	0	0	0	0	1	0	0	0	9973	1377	48	4	29893	4	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	1075884	9073488	50055495	37	30418											
SBF1	6305	broad.mit.edu	37	chr22	50903540	50903540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtcctctaccagcccacGctggcccaggaaggctgcct	10	17	1	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:50903540G>A	ENST00000390679.3	-	12	1406	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	SBF1_ENST00000348911.6_Missense_Mutation_p.R409C|SBF1_ENST00000380817.3_Missense_Mutation_p.R408C			O95248	MTMR5_HUMAN	SET binding factor 1	408	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAGCCCACGCTGGCCCAGG	0.632																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1222-1224)Cgt>Tgt		SET binding factor 1							62	67	65					22																	50903540		2124	4240	6364	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903540G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1222C>T	22.37:g.50903540G>A	ENSP00000375097:p.Arg408Cys					SBF1_ENST00000348911.6_Missense_Mutation_p.R409C|SBF1_ENST00000390679.3_Missense_Mutation_p.R408C	p.R408C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	12	1405	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	408			dDENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1222C>T		.	.	.	.	.	.	.	.	.	.	G	17.82	3.482608	0.63962	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.51325	0.71;0.71;0.71	3.93	2.84	0.33178	dDENN (3);	0.145320	0.41823	D	0.000802	T	0.65460	0.2693	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.997	T	0.70428	-0.4874	10	0.87932	D	0	.	11.8014	0.52128	0.0:0.0:0.7113:0.2886	.	408;409;408	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	C	408;409;419;418;408	ENSP00000370196:R408C;ENSP00000252027:R409C;ENSP00000375097:R408C	ENSP00000336522:R418C	R	-	1	0	SBF1	49250406	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.626000	0.24492	2.028000	0.59812	0.655000	0.94253	CGT		0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	46	0	0	0	1	0	4	46					A	50903540	G	A	50903540	3	1	291	1	0	0	0	0	1	0	0	0	13858	1087	38	1	4579	1	SBF1	22	50903540	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		50903540	401026	38	30419											
ATRX	546	broad.mit.edu	37	chrX	76849196	76849196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctctgccattcgaAgaatttcaaagagaagtacc	6	10	2	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:76849196A>G	ENST00000373344.5	-	26	6294	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2027	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						TGCCATTCGAAGAATTTCAAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6079-6081)cTt>cCt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						72	69	70					X																	76849196		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849196A>G	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.6080T>C	X.37:g.76849196A>G	ENSP00000362441:p.Leu2027Pro					ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P|ATRX_ENST00000480283.1_5'UTR	p.L2027P	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			26	6294	-			2027			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6080T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948058	0.53186	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94862	-3.54;-3.54	5.45	5.45	0.79879	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000010	D	0.97804	0.9279	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98781	1.0732	10	0.87932	D	0	-5.4506	14.5755	0.68243	1.0:0.0:0.0:0.0	.	1989;2027	P46100-4;P46100	.;ATRX_HUMAN	P	2027;1989	ENSP00000362441:L2027P;ENSP00000378967:L1989P	ENSP00000362441:L2027P	L	-	2	0	ATRX	76735852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	1.823000	0.53134	0.430000	0.28490	CTT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		18	68	0	0	0	1	0	18	68					G	76849196	A	G	76849196	3	3	291	1	0	0	0	0	1	0	0	0	1208	72	3	3	1438	3	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08		76849196	78421364	39	30420											
ODZ1	10178	broad.mit.edu	37	chrX	123517776	123517776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgacctgacctcggctGctgaacacagctagtggggt	12	10	0	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:123517776G>A	ENST00000371130.3	-	29	7047	c.6984C>T	c.(6982-6984)agC>agT	p.S2328S	TENM1_ENST00000422452.2_Silent_p.S2335S|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2328					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)										GACCTCGGCTGCTGAACACAG	0.423																																						ENST00000422452.2																			0											c.(7003-7005)agC>agT		teneurin transmembrane protein 1							93	83	87					X																	123517776		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123517776G>A	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.6984C>T	X.37:g.123517776G>A						TENM1_ENST00000371130.3_Silent_p.S2328S|STAG2_ENST00000469481.1_Intron	p.S2335S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	7068	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7005C>T	CCDS14609.1																																																																																				0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		8	129	0	0	0	1	0	8	129					A	123517776	G	A	123517776	2	1	291	1	0	0	0	0	0	0	0	1	10834	1310	46	2		2	ODZ1	23	123517776	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08	46668580	123517776	31752784	40	30421											
SMARCA1	6594	broad.mit.edu	37	chrX	128633716	128633716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatagctcaccattctcGttgcatcttactcagcccca	5	14	4	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:128633716G>A	ENST00000371122.4	-	10	1399	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R424*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R424*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	424					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CACCATTCTCGTTGCATCTTA	0.318																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1270-1272)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							106	108	107					X																	128633716		2203	4299	6502	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128633716G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1270C>T	X.37:g.128633716G>A	ENSP00000360163:p.Arg424*					SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R424*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R424*	p.R424*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			10	1399	-			424					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.1270C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	39	7.289142	0.98189	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.28	3.3	0.37823	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9403	13.1125	0.59281	0.0:0.0:0.7262:0.2738	.	.	.	.	X	424;424;424;403	.	ENSP00000360162:R424X	R	-	1	2	SMARCA1	128461397	0.997000	0.39634	0.978000	0.43139	0.986000	0.74619	2.133000	0.42093	2.169000	0.68431	0.513000	0.50165	CGA		0.318	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		31	94	0	0	0	1	0	31	94					A	128633716	G	A	128633716	4	1	291	1	0	0	0	0	0	1	0	0	14768	1153	40	1	1954	1	SMARCA1	23	128633716	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	5115940	128633716	26636844	41	30422											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884981	12884981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaccataactttccTgcggggcaggatacagctcc	9	14	1	0	rs4989318	byFrequency	TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr1:12884981T>C	ENST00000535591.1	-	4	1325	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	377					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(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATAACTTTCCTGCGGGGCAGG	0.507													.|||	76	0.0151757	0.0008	0.0231	5008	,	,		22853	0.003		0.0507	False		,,,				2504	0.0051					ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1129-1131)cAg>cGg		PRAME family member 11		C	ARG/GLN	9,1375		0,9,683	96	71	78		1130	-1.2	0	1	dbSNP_113	78	165,3015		10,145,1435	no	missense	PRAMEF11	NM_001146344.1	43	10,154,2118	CC,CT,TT		5.1887,0.6503,3.8124	benign	377/437	12884981	174,4390	692	1590	2282	SO:0001583	missense	440560							g.chr1:12884981T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1130A>G	1.37:g.12884981T>C	ENSP00000439551:p.Gln377Arg						p.Q377R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1325	-			377						Missense_Mutation	SNP	ENST00000535591.1	37	c.1130A>G	CCDS53268.1	61	0.027930402930402932	1	0.0020325203252032522	12	0.03314917127071823	5	0.008741258741258742	43	0.05672823218997362	.	1.215	-0.628591	0.03610	0.006503	0.051887	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.56103	0.48;0.48	1.76	-1.18	0.09617	.	0.329023	0.24884	N	0.034831	T	0.02230	0.0069	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05616	-1.0874	10	0.21540	T	0.41	.	2.7367	0.05242	0.308:0.2838:0.0:0.4082	rs4989318	377	O60813	PRA11_HUMAN	R	377;418;377	ENSP00000439551:Q377R;ENSP00000391839:Q377R	ENSP00000328783:Q418R	Q	-	2	0	PRAMEF11	12807568	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-1.124000	0.03260	-1.008000	0.03404	-0.479000	0.04858	CAG		0.507	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	86	0	0	0	1	0	6	86					C	12884981	T	C	12884981	3	2	292	1	0	0	0	0	1	0	0	0	12427	1580	55	3	184	3	PRAMEF11	1	12884981	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		12884981	236365640	1	30423											
CCDC88A	55704	broad.mit.edu	37	chr2	55582839	55582839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagatgaagaggcatGgggtagaaaatggagaccat	15	5	0	5			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:55582839G>A	ENST00000436346.1	-	8	1517	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	226					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						GAAGAGGCATGGGGTAGAAAA	0.443																																						ENST00000436346.1																			0				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						c.(676-678)Cat>Tat		coiled-coil domain containing 88A							97	82	87					2																	55582839		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55582839G>A	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.676C>T	2.37:g.55582839G>A	ENSP00000410608:p.His226Tyr					CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y	p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			8	1517	-			226					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.676C>T		.	.	.	.	.	.	.	.	.	.	G	8.177	0.792970	0.16327	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.05	5.05	0.67936	.	0.131264	0.34411	U	0.004000	T	0.34600	0.0903	N	0.14661	0.345	0.80722	D	1	B;P;P	0.36125	0.261;0.478;0.538	B;B;B	0.40602	0.334;0.134;0.192	T	0.29671	-1.0004	10	0.51188	T	0.08	-15.073	18.7498	0.91809	0.0:0.0:1.0:0.0	.	226;226;226	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	226	ENSP00000338728:H226Y;ENSP00000263630:H226Y;ENSP00000410608:H226Y;ENSP00000404431:H226Y	ENSP00000263630:H226Y	H	-	1	0	CCDC88A	55436343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.315000	0.78998	2.518000	0.84900	0.591000	0.81541	CAT		0.443	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		18	50	0	0	0	1	0	18	50					A	55582839	G	A	55582839	3	1	292	1	0	0	0	0	1	0	0	0	2863	1348	47	2	5039	2	CCDC88A	2	55582839	Missense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		55582839	187616534	2	30424											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	58	0	0	0	1	0	24	58					T	209113112	C	T	209113112	3	4	292	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	153530273	209113112	34086261	3	30425											
DST	667	broad.mit.edu	37	chr6	56420389	56420389	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtttattatccaagtcacTcagtttatcagaaaggcttc	7	8	3	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr6:56420389T>C	ENST00000361203.3	-	56	14264	c.14257A>G	c.(14257-14259)Agt>Ggt	p.S4753G	DST_ENST00000370788.2_Missense_Mutation_p.S2667G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000370754.5_Missense_Mutation_p.S4933G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000421834.2_Missense_Mutation_p.S2667G			Q03001	DYST_HUMAN	dystonin	4753					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)			TCCAAGTCACTCAGTTTATCA	0.453																																						ENST00000370754.5																			0				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						c.(14797-14799)Agt>Ggt		dystonin							95	92	93					6																	56420389		1912	4149	6061	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56420389T>C	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.14257A>G	6.37:g.56420389T>C	ENSP00000354508:p.Ser4753Gly					DST_ENST00000361203.3_Missense_Mutation_p.S4753G|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000370788.2_Missense_Mutation_p.S2667G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2667G	p.S4933G			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		60	14796	-	Lung NSC(77;0.103)		4753					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	ENST00000361203.3	37	c.14797A>G		.	.	.	.	.	.	.	.	.	.	T	9.763	1.170608	0.21621	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.42513	1.15;1.32;1.32;1.32;0.97;1.32;1.32	5.66	-0.901	0.10540	.	0.625591	0.15512	N	0.258473	T	0.14227	0.0344	L	0.43152	1.355	0.25322	N	0.989109	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.13407	0.001;0.002;0.009;0.001;0.0	T	0.22730	-1.0208	9	0.22706	T	0.39	.	11.1476	0.48440	0.0:0.3532:0.0:0.6468	.	2667;4755;4933;4753;2341	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	2341;4933;4755;2667;4429;2667;4753	ENSP00000244364:S2341G;ENSP00000359790:S4933G;ENSP00000359805:S4755G;ENSP00000400883:S2667G;ENSP00000393645:S4429G;ENSP00000359824:S2667G;ENSP00000354508:S4753G	ENSP00000244364:S2341G	S	-	1	0	DST	56528348	0.011000	0.17503	0.035000	0.18076	0.991000	0.79684	0.304000	0.19228	-0.291000	0.09012	0.528000	0.53228	AGT		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	63	0	0	0	1	0	7	63					C	56420389	T	C	56420389	3	2	292	1	0	0	0	0	1	0	0	0	4783	1551	54	3	8670	3	DST	6	56420389	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		56420389	114694678	4	30426											
ABP1	26	broad.mit.edu	37	chr7	150555013	150555013	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcatgccactggctacgtCcacgccaccttctacacccc	6	19	1	0			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr7:150555013C>T	ENST00000493429.1	+	4	2039	c.1455C>T	c.(1453-1455)gtC>gtT	p.V485V	AOC1_ENST00000467291.1_Silent_p.V485V|AOC1_ENST00000416793.2_Silent_p.V485V|AOC1_ENST00000360937.4_Silent_p.V485V			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	485					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGGCTACGTCCACGCCACCT	0.552																																						ENST00000493429.1																			0											c.(1453-1455)gtC>gtT		amine oxidase, copper containing 1							70	77	75					7																	150555013		2164	4253	6417	SO:0001819	synonymous_variant	26							g.chr7:150555013C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1455C>T	7.37:g.150555013C>T						AOC1_ENST00000360937.4_Silent_p.V485V|AOC1_ENST00000416793.2_Silent_p.V485V|AOC1_ENST00000467291.1_Silent_p.V485V	p.V485V							4	2039	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.1455C>T	CCDS43679.1																																																																																				0.552	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		23	83	0	0	0	1	0	23	83					T	150555013	C	T	150555013	2	4	292	1	0	0	0	0	0	0	0	1	98	842	30	2		2	ABP1	7	150555013	Silent	SNP	C	TCGA-HT-8010-01A-11D-2395-08		150555013	8583650	5	30427											
TMEM68	137695	broad.mit.edu	37	chr8	56663637	56663637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgagatagctaacaaGtggccactcctcagaatttc	9	11	1	2			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr8:56663637G>A	ENST00000434581.2	-	5	772	c.573C>T	c.(571-573)caC>caT	p.H191H	TMEM68_ENST00000519784.1_Silent_p.H77H|TMEM68_ENST00000334667.2_Silent_p.H191H|TMEM68_ENST00000523073.1_Silent_p.H77H			Q96MH6	TMM68_HUMAN	transmembrane protein 68	191						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAGCTAACAAGTGGCCACTCC	0.418																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(571-573)caC>caT		transmembrane protein 68							94	93	94					8																	56663637		2203	4300	6503	SO:0001819	synonymous_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56663637G>A	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.573C>T	8.37:g.56663637G>A						TMEM68_ENST00000519784.1_Silent_p.H77H|TMEM68_ENST00000523073.1_Silent_p.H77H|TMEM68_ENST00000334667.2_Silent_p.H191H	p.H191H			Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		5	772	-			191					Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37	c.573C>T																																																																																					0.418	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		20	86	0	0	0	1	0	20	86					A	56663637	G	A	56663637	2	1	292	1	0	0	0	0	0	0	0	1	16194	1020	36	2		2	TMEM68	8	56663637	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		56663637	89700385	6	30428											
SLC4A8	9498	broad.mit.edu	37	chr12	51882579	51882579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctcttctctgtactAtcttgatattcatggatcag	6	11	5	1	rs138940118		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr12:51882579A>G	ENST00000453097.2	+	18	2600	c.2383A>G	c.(2383-2385)Atc>Gtc	p.I795V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	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)		TCTCTGTACTATCTTGATATT	0.453																																						ENST00000453097.2																			0				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						c.(2383-2385)Atc>Gtc		solute carrier family 4, sodium bicarbonate cotransporter, member 8		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	120	100	107		2383,2383	4.3	1	12	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SLC4A8	NM_001039960.1,NM_004858.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	795/1094,795/1045	51882579	1,13005	2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51882579A>G	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.2383A>G	12.37:g.51882579A>G	ENSP00000405812:p.Ile795Val					SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	p.I795V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	18	2600	+			795						Missense_Mutation	SNP	ENST00000453097.2	37	c.2383A>G	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048654	0.75846	2.27E-4	0.0	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.83591	-1.74;-1.74	4.26	4.26	0.50523	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.84433	2.695	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.994	D;D;D	0.91635	0.966;0.999;0.998	D	0.92480	0.5992	10	0.87932	D	0	.	13.0695	0.59053	1.0:0.0:0.0:0.0	.	822;795;795	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	V	822;795;795;742	ENSP00000351483:I822V;ENSP00000405812:I795V	ENSP00000315789:I795V	I	+	1	0	SLC4A8	50168846	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.284000	0.95882	1.871000	0.54225	0.377000	0.23210	ATC		0.453	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		6	86	0	0	0	1	0	6	86					G	51882579	A	G	51882579	3	3	292	1	0	0	0	0	1	0	0	0	14659	449	16	3	2453	3	SLC4A8	12	51882579	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		51882579	81969316	7	30429											
ITGAL	3683	broad.mit.edu	37	chr16	30500576	30500576	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccttccctgggcaggGccatgcagtcgtgggggcag	15	13	1	0			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr16:30500576G>A	ENST00000356798.6	+	11	1262	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278D|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)	361					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)	CCTGGGCAGGGCCATGCAGTC	0.622																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				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						c.e11-1		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						60	58	59					16																	30500576		2197	4300	6497	SO:0001630	splice_region_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30500576G>A		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.1081-1G>A	16.37:g.30500576G>A						RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278_splice|ITGAL_ENST00000568012.1_Intron	p.G361_splice	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			11	1262	+			361					O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	ENST00000356798.6	37	c.1080_splice	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082109	0.36758	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.83591	-1.74;-1.74	5.58	0.224	0.15297	.	0.613258	0.15546	N	0.256718	T	0.63850	0.2546	N	0.16903	0.455	0.31012	N	0.719069	B;B	0.19200	0.034;0.004	B;B	0.21917	0.037;0.01	T	0.54397	-0.8300	10	0.02654	T	1	.	8.9205	0.35607	0.4694:0.0:0.5306:0.0	.	278;361	Q96HB1;P20701	.;ITAL_HUMAN	D	361;278	ENSP00000349252:G361D;ENSP00000350886:G278D	ENSP00000349252:G361D	G	+	2	0	ITGAL	30408077	0.082000	0.21442	0.280000	0.24747	0.924000	0.55760	0.065000	0.14466	-0.152000	0.11156	-0.136000	0.14681	GGC		0.622	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		Missense_Mutation	20	54	0	0	0	1	0	20	54					A	30500576	G	A	30500576	5	1	292	1	0	0	0	0	0	0	1	0	7886	1217	42	2	1124	2	ITGAL	16	30500576	Splice_Site	SNP	G	TCGA-HT-8010-01A-11D-2395-08		30500576	59854177	8	30430											
NF1	4763	broad.mit.edu	37	chr17	29556985	29556985	+	Frame_Shift_Del	DEL	C	C	-													ttgaaacaatgatgttaaatCtggtcaggtaagcattctac							TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:29556985delC	ENST00000358273.4	+	22	3366	c.2983delC	c.(2983-2985)ctgfs	p.L995fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	995					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.?(4)	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)		GATGTTAAATCTGGTCAGGTA	0.348			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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						c.(2983-2985)tgfs		neurofibromin 1							91	91	91					17																	29556985		2202	4298	6500	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556985delC		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.2983delC	17.37:g.29556985delC	ENSP00000351015:p.Leu995fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	22	3366	+		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)	995					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.2983delC	CCDS42292.1																																																																																				0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		41	120						41	120	---	---	---	---	-	29556985	C	-	29556985	7	5	292	1	0	1	0	1	0	0	0	0	10356	912	32	0	3130	0	NF1	17	29556985	Frame_Shift_Del	DEL	C	TCGA-HT-8010-01A-11D-2395-08		29556985	51638225	9	30431											
SLC25A39	51629	broad.mit.edu	37	chr17	42400903	42400903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatttgctggagggggcTgatgcccgcagggtcctggt	16	11	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:42400903T>C	ENST00000377095.5	-	2	147	c.28A>G	c.(28-30)Agc>Ggc	p.S10G	SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000225308.8_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	10					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGAGGGGGCTGATGCCCGCA	0.612																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(28-30)Agc>Ggc		solute carrier family 25, member 39							17	17	17					17																	42400903		2197	4295	6492	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42400903T>C	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.28A>G	17.37:g.42400903T>C	ENSP00000366299:p.Ser10Gly					SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000377095.5_Missense_Mutation_p.S10G|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron	p.S10G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	2	202	-		Prostate(33;0.0233)	10					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.28A>G	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250098	0.39797	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79454	-1.27;-1.27;-1.27	4.48	4.48	0.54585	Mitochondrial carrier domain (2);	0.170491	0.50627	D	0.000107	T	0.78149	0.4238	N	0.25094	0.71	0.39117	D	0.961589	D;D;B;P;B	0.69078	0.991;0.997;0.18;0.949;0.334	D;D;B;P;B	0.66351	0.911;0.943;0.178;0.842;0.251	T	0.78303	-0.2256	10	0.32370	T	0.25	-2.2901	13.6319	0.62200	0.0:0.0:0.0:1.0	.	10;10;10;10;10	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	G	10	ENSP00000225308:S10G;ENSP00000366299:S10G;ENSP00000444540:S10G	ENSP00000225308:S10G	S	-	1	0	SLC25A39	39756429	0.992000	0.36948	0.934000	0.37439	0.023000	0.10783	2.301000	0.43628	1.896000	0.54893	0.533000	0.62120	AGC		0.612	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		2	11	0	0	0	1	0	2	11					C	42400903	T	C	42400903	3	2	292	1	0	0	0	0	1	0	0	0	14503	1580	55	3	1095	3	SLC25A39	17	42400903	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08	12843918	42400903	38794307	10	30432											
FFAR3	2865	broad.mit.edu	37	chr19	35850686	35850686	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggttgtgtgggctctgGggccagtggcagcaggagag	21	6	1	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:35850686G>A	ENST00000327809.4	+	2	1095	c.894G>A	c.(892-894)tgG>tgA	p.W298*	FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	298					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)			GTGGGCTCTGGGGCCAGTGGC	0.587																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(892-894)tgG>tgA		free fatty acid receptor 3							27	22	24					19																	35850686		2200	4274	6474	SO:0001587	stop_gained	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850686G>A	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.894G>A	19.37:g.35850686G>A	ENSP00000328230:p.Trp298*					FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298*	p.W298*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	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)		2	1095	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		298					B2RWM8|Q14CM7	Nonsense_Mutation	SNP	ENST00000327809.4	37	c.894G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685439	0.47991	.	.	ENSG00000185897	ENST00000327809	.	.	.	4.5	-0.717	0.11208	.	1.253580	0.05772	U	0.606881	.	.	.	.	.	.	0.50813	D	0.999897	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-4.4155	7.1009	0.25336	0.0:0.1874:0.3498:0.4628	.	.	.	.	X	298	.	ENSP00000328230:W298X	W	+	3	0	FFAR3	40542526	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.410000	0.07151	-0.224000	0.09928	-0.493000	0.04662	TGG		0.587	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		7	48	0	0	0	1	0	7	48					A	35850686	G	A	35850686	4	1	292	1	0	0	0	0	0	1	0	0	5829	1241	43	2	896	2	FFAR3	19	35850686	Nonsense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		35850686	23278297	11	30433											
NKPD1	284353	broad.mit.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-													gtggggcccccaaagtccccCtgctgctgctgctgctgcag							TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:45655769_45655771delCTG	ENST00000438936.2	-	3	1469_1471	c.1258_1260delCAG	c.(1258-1260)cagdel	p.Q420del	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000317951.4_In_Frame_Del_p.Q642del			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1924-1926)del		NTPase, KAP family P-loop domain containing 1				80,72,3002		15,0,50,16,40,1456						2.5	0.9			7	8,143,6913		1,0,6,18,107,3400	no	codingComplex	NKPD1	NM_198478.3		16,0,56,34,147,4856	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1376,4.8193,2.9654				88,215,9915				SO:0001651	inframe_deletion	284353							g.chr19:45655769_45655771delCTG	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1258_1260delCAG	19.37:g.45655778_45655780delCTG	ENSP00000401739:p.Gln420del					NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del	p.Q642del	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1923_1925	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	In_Frame_Del	DEL	ENST00000438936.2	37	c.1924_1926delCAG																																																																																					0.704	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		2	4						2	4	---	---	---	---	-	45655771	CTG	-	45655769	7	5	292	1	0	1	0	1	0	0	0	0	10446	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-HT-8010-01A-11D-2395-08	9805083	45655769	13473214	12	30434											
POFUT2	23275	broad.mit.edu	37	chr21	46685545	46685545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagactgaggtgccaataAaaaacctgcaaaggatcaca	9	8	1	2			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr21:46685545A>C	ENST00000349485.5	-	9	1168	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTGCCAATAAAAAACCTGCA	0.498																																						ENST00000349485.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1141-1143)tTt>tGt		protein O-fucosyltransferase 2							54	59	57					21																	46685545		2203	4300	6503	SO:0001583	missense	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46685545A>C	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1142T>G	21.37:g.46685545A>C	ENSP00000339613:p.Phe381Cys					POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	p.F381C	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	9	1168	-			381					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	c.1142T>G	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033579	0.75504	.	.	ENSG00000186866	ENST00000349485	T	0.61980	0.06	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85306	0.1076	10	0.72032	D	0.01	-17.678	12.571	0.56337	1.0:0.0:0.0:0.0	.	381	Q9Y2G5	OFUT2_HUMAN	C	381	ENSP00000339613:F381C	ENSP00000339613:F381C	F	-	2	0	POFUT2	45509973	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.477000	0.90424	1.934000	0.56057	0.533000	0.62120	TTT		0.498	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		12	28	0	0	0	1	0	12	28					C	46685545	A	C	46685545	3	2	292	1	0	0	0	0	1	0	0	0	12184	14	1	5	151	5	POFUT2	21	46685545	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		46685545	1444350	13	30435											
MFNG	4242	broad.mit.edu	37	chr22	37882152	37882152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtggtaccgcagacacaGgagccccatgcacaggaggg	14	12	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:37882152G>A	ENST00000356998.3	-	1	287	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	MFNG_ENST00000416983.3_Silent_p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	22					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CGCAGACACAGGAGCCCCATG	0.682																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(64-66)Ctg>Ttg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							23	27	26					22																	37882152		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882152G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.64C>T	22.37:g.37882152G>A						MFNG_ENST00000416983.3_Silent_p.L22L	p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			1	287	-	Melanoma(58;0.0574)		22					B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.64C>T	CCDS13947.1																																																																																				0.682	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		9	41	0	0	0	1	0	9	41					A	37882152	G	A	37882152	2	1	292	1	0	0	0	0	0	0	0	1	9525	991	35	2		2	MFNG	22	37882152	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		37882152	13422414	14	30436											
PHF16	9767	broad.mit.edu	37	chrX	46884202	46884202	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctccagcccagacaccAcagagcctggctacatcaac	7	17	1	2			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:46884202A>G	ENST00000218343.4	+	5	659	c.361A>G	c.(361-363)Aca>Gca	p.T121A	PHF16_ENST00000397189.1_Missense_Mutation_p.T121A	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCAGACACCACAGAGCCTGG	0.463																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(361-363)Aca>Gca									122	95	104					X																	46884202		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46884202A>G																												ENST00000218343.4:c.361A>G	X.37:g.46884202A>G	ENSP00000218343:p.Thr121Ala					PHF16_ENST00000397189.1_Missense_Mutation_p.T121A	p.T121A	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			5	659	+			121						Missense_Mutation	SNP	ENST00000218343.4	37	c.361A>G	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	A	4.549	0.101964	0.08731	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T;T	0.41758	0.99;0.99;0.99	5.79	-11.6	0.00059	Enhancer of polycomb-like, N-terminal (1);	0.649316	0.16270	N	0.221810	T	0.16041	0.0386	N	0.15975	0.35	0.20926	N	0.99983	B	0.02656	0.0	B	0.04013	0.001	T	0.11767	-1.0574	10	0.11485	T	0.65	.	11.3873	0.49793	0.1801:0.0:0.5721:0.2478	.	121	Q92613	JADE3_HUMAN	A	121	ENSP00000391009:T121A;ENSP00000380373:T121A;ENSP00000218343:T121A	ENSP00000218343:T121A	T	+	1	0	PHF16	46769146	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.510000	0.06328	-3.884000	0.00095	-0.443000	0.05667	ACA		0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			19	56	0	0	0	1	0	19	56					G	46884202	A	G	46884202	3	3	292	1	0	0	0	0	1	0	0	0	11827	159	6	3	375	3	PHF16	23	46884202	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		46884202	108386358	15	30437											
USP11	8237	broad.mit.edu	37	chrX	47101902	47101902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctctgtccaaacacaCgggcatctcgccagagaggg	13	12	2	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47101902C>T	ENST00000218348.3	+	11	1598	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	USP11_ENST00000377107.2_Missense_Mutation_p.T490M	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533	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						TCCAAACACACGGGCATCTCG	0.567																																						ENST00000377107.2																			0				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						c.(1468-1470)aCg>aTg		ubiquitin specific peptidase 11							85	69	75					X																	47101902		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101902C>T	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.1598C>T	X.37:g.47101902C>T	ENSP00000218348:p.Thr533Met					USP11_ENST00000218348.3_Missense_Mutation_p.T533M	p.T490M			P51784	UBP11_HUMAN			11	1823	+			533					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1469C>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234718	0.58886	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21734	2.0;1.99	5.63	4.74	0.60224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.125517	0.52532	D	0.000078	T	0.33381	0.0861	L	0.44542	1.39	0.43617	D	0.995999	P;D	0.69078	0.763;0.997	P;P	0.58780	0.667;0.845	T	0.04017	-1.0984	10	0.62326	D	0.03	-14.0357	13.6734	0.62438	0.1558:0.8442:0.0:0.0	.	260;533	B3KP28;P51784	.;UBP11_HUMAN	M	490;533	ENSP00000366311:T490M;ENSP00000218348:T533M	ENSP00000218348:T533M	T	+	2	0	USP11	46986846	0.667000	0.27484	0.727000	0.30756	0.659000	0.38960	3.248000	0.51430	1.083000	0.41159	0.500000	0.49745	ACG		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		12	45	0	0	0	1	0	12	45					T	47101902	C	T	47101902	3	4	292	1	0	0	0	0	1	0	0	0	17039	536	19	1	1640	1	USP11	23	47101902	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	217700	47101902	108168658	16	30438											
ZNF182	7569	broad.mit.edu	37	chrX	47836606	47836606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgaaggcttttccacattCaggacactcaaagggtctct	8	11	4	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47836606C>T	ENST00000396965.1	-	7	1230	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	294					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						TTTCCACATTCAGGACACTCA	0.398																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(880-882)Gaa>Aaa		zinc finger protein 182							88	77	81					X																	47836606		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836606C>T	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.880G>A	X.37:g.47836606C>T	ENSP00000380165:p.Glu294Lys					ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K	p.E294K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	1230	-			294					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.880G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269928	0.59540	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07327	3.2;3.2;3.2	4.53	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	N	0.05199	-0.095	0.26960	N	0.965821	P;D;P	0.57899	0.633;0.981;0.933	P;D;P	0.64144	0.679;0.922;0.497	T	0.27739	-1.0065	9	0.62326	D	0.03	.	11.5562	0.50750	0.0:0.8223:0.1777:0.0	.	274;275;294	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	275;294;294	ENSP00000366142:E275K;ENSP00000380165:E294K;ENSP00000306351:E294K	ENSP00000306351:E294K	E	-	1	0	ZNF182	47721550	0.000000	0.05858	0.914000	0.36105	0.993000	0.82548	-0.062000	0.11674	1.032000	0.39892	0.594000	0.82650	GAA		0.398	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		36	87	0	0	0	1	0	36	87					T	47836606	C	T	47836606	3	4	292	1	0	0	0	0	1	0	0	0	17747	835	29	2	1043	2	ZNF182	23	47836606	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	734704	47836606	107433954	17	30439											
ATP11C	286410	broad.mit.edu	37	chrX	138886675	138886675	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgtagtgacataacaGgttccatcagtggtgcaaga	12	8	1	2			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:138886675G>C	ENST00000327569.3	-	6	617	c.519C>G	c.(517-519)acC>acG	p.T173T	ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000370557.1_Silent_p.T170T|ATP11C_ENST00000359686.2_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	173					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)					TGACATAACAGGTTCCATCAG	0.393																																						ENST00000370557.1																			0				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						c.(508-510)acC>acG		ATPase, class VI, type 11C							218	192	200					X																	138886675		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138886675G>C	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.519C>G	X.37:g.138886675G>C						ATP11C_ENST00000327569.3_Silent_p.T173T|ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T|ATP11C_ENST00000359686.2_Silent_p.T173T	p.T170T			Q8NB49	AT11C_HUMAN			6	1537	-	Acute lymphoblastic leukemia(192;0.000127)		173					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.510C>G	CCDS14668.1																																																																																				0.393	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		74	182	0	0	0	1	0	74	182					C	138886675	G	C	138886675	2	2	292	1	0	0	0	0	0	0	0	1	1121	987	35	4		4	ATP11C	23	138886675	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08	91050069	138886675	16383885	18	30440											
KIAA0090	23065	broad.mit.edu	37	chr1	19563721	19563721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccttcttcaagaacacCtggatatacagctataagcc	5	12	3	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:19563721C>T	ENST00000477853.1	-	12	1266	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.Q407Q|EMC1_ENST00000375208.3_Silent_p.Q386Q	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	408						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCAAGAACACCTGGATATACA	0.502																																						ENST00000477853.1																			0											c.(1222-1224)caG>caA		ER membrane protein complex subunit 1							177	169	172					1																	19563721		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19563721C>T		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.1224G>A	1.37:g.19563721C>T						EMC1_ENST00000375199.3_Silent_p.Q407Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.Q386Q	p.Q408Q	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					12	1266	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1224G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047351	0.19827	.	.	ENSG00000127463	ENST00000375197	.	.	.	6.07	4.19	0.49359	.	.	.	.	.	T	0.60856	0.2301	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59263	-0.7487	4	.	.	.	-25.2842	10.6732	0.45770	0.0:0.8488:0.0:0.1512	.	.	.	.	S	142	.	.	G	-	1	0	KIAA0090	19436308	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.534000	0.23098	1.581000	0.49865	0.655000	0.94253	GGT		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		44	81	0	0	0	1	0	44	81					T	19563721	C	T	19563721	2	4	293	1	0	0	0	0	0	0	0	1	8153	680	24	2		2	KIAA0090	1	19563721	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19563721	229686900	1	30441											
WDR63	126820	broad.mit.edu	37	chr1	85551533	85551533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattacatatatgatttctcGaaaacgaagtgaatttggtg	9	4	1	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:85551533G>A	ENST00000294664.6	+	7	740	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	WDR63_ENST00000370596.1_Missense_Mutation_p.R187Q|WDR63_ENST00000326813.8_Missense_Mutation_p.R187Q	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	187										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATGATTTCTCGAAAACGAAGT	0.373																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(559-561)cGa>cAa		WD repeat domain 63							98	89	92					1																	85551533		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85551533G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.560G>A	1.37:g.85551533G>A	ENSP00000294664:p.Arg187Gln					WDR63_ENST00000326813.8_Missense_Mutation_p.R187Q|WDR63_ENST00000370596.1_Missense_Mutation_p.R187Q	p.R187Q	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	7	740	+			187					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.560G>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011645	0.54468	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.55413	0.52;0.52;0.67	5.71	4.81	0.61882	.	0.190176	0.44483	D	0.000454	T	0.42268	0.1195	M	0.83012	2.62	0.41707	D	0.989438	P;P	0.40431	0.717;0.573	B;B	0.34242	0.178;0.067	T	0.54282	-0.8317	10	0.51188	T	0.08	-0.694	14.9255	0.70875	0.0689:0.0:0.931:0.0	.	187;187	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	Q	187	ENSP00000359628:R187Q;ENSP00000317463:R187Q;ENSP00000294664:R187Q	ENSP00000294664:R187Q	R	+	2	0	WDR63	85324121	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	3.164000	0.50770	1.423000	0.47198	-0.216000	0.12614	CGA		0.373	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		12	7	0	0	0	1	0	12	7					A	85551533	G	A	85551533	3	1	293	1	0	0	0	0	1	0	0	0	17311	1058	37	1	582	1	WDR63	1	85551533	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	65987812	85551533	163699088	2	30442											
AGL	178	broad.mit.edu	37	chr1	100361871	100361871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttcttctggtattttcCgctgctggggaagggatact	11	7	2	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:100361871C>T	ENST00000294724.4	+	25	3767	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	AGL_ENST00000370163.3_Missense_Mutation_p.R1097C|AGL_ENST00000370165.3_Missense_Mutation_p.R1097C|AGL_ENST00000361302.3_Missense_Mutation_p.R1081C|AGL_ENST00000361522.4_Missense_Mutation_p.R1080C|AGL_ENST00000370161.2_Missense_Mutation_p.R1081C|AGL_ENST00000361915.3_Missense_Mutation_p.R1097C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1097					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTATTTTCCGCTGCTGGGG	0.373																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3289-3291)Cgc>Tgc		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							230	204	213					1																	100361871		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100361871C>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3289C>T	1.37:g.100361871C>T	ENSP00000294724:p.Arg1097Cys					AGL_ENST00000370161.2_Missense_Mutation_p.R1081C|AGL_ENST00000361302.3_Missense_Mutation_p.R1081C|AGL_ENST00000361522.4_Missense_Mutation_p.R1080C|AGL_ENST00000370163.3_Missense_Mutation_p.R1097C|AGL_ENST00000361915.3_Missense_Mutation_p.R1097C|AGL_ENST00000370165.3_Missense_Mutation_p.R1097C	p.R1097C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	25	3767	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1097					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3289C>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348586	0.95807	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.94	5.94	0.96194	Six-hairpin glycosidase-like (1);	0.048779	0.85682	D	0.000000	D	0.88526	0.6460	M	0.94142	3.5	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	0.90453	0.4440	10	0.87932	D	0	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	1080;1081;1097	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	1097;1097;1097;1097;1081;1081;1080	ENSP00000355106:R1097C;ENSP00000359184:R1097C;ENSP00000359182:R1097C;ENSP00000294724:R1097C;ENSP00000354971:R1081C;ENSP00000359180:R1081C;ENSP00000354635:R1080C	ENSP00000294724:R1097C	R	+	1	0	AGL	100134459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.766000	0.68843	2.820000	0.97059	0.650000	0.86243	CGC		0.373	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		29	44	0	0	0	1	0	29	44					T	100361871	C	T	100361871	3	4	293	1	0	0	0	0	1	0	0	0	384	652	23	1	3452	1	AGL	1	100361871	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	14810338	100361871	148888750	3	30443											
OR2M7	391196	broad.mit.edu	37	chr1	248487786	248487786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagatggccaggaccagaaAgaagaggaaggtgtgggtgg	18	4	0	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:248487786A>T	ENST00000317965.2	-	1	113	c.85T>A	c.(85-87)Ttt>Att	p.F29I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	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)|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)			AGGACCAGAAAGAAGAGGAAG	0.502																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(85-87)Ttt>Att		olfactory receptor, family 2, subfamily M, member 7							220	223	222					1																	248487786		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487786A>T	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.85T>A	1.37:g.248487786A>T	ENSP00000324557:p.Phe29Ile						p.F29I	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	113	-	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)		29					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.85T>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	A	6.121	0.390594	0.11581	.	.	ENSG00000177186	ENST00000317965	T	0.00631	6.09	1.55	-2.48	0.06423	.	0.561270	0.13373	U	0.392738	T	0.00356	0.0011	N	0.04245	-0.25	0.09310	N	1	B	0.23591	0.088	B	0.23275	0.045	T	0.41070	-0.9529	10	0.10902	T	0.67	.	9.1151	0.36753	0.401:0.5989:0.0:0.0	.	29	Q8NG81	OR2M7_HUMAN	I	29	ENSP00000324557:F29I	ENSP00000324557:F29I	F	-	1	0	OR2M7	246554409	0.000000	0.05858	0.246000	0.24233	0.537000	0.34900	-1.516000	0.02250	-0.131000	0.11578	0.163000	0.16589	TTT		0.502	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		106	126	0	0	0	1	0	106	126					T	248487786	A	T	248487786	3	4	293	1	0	0	0	0	1	0	0	0	11014	72	3	5	856	5	OR2M7	1	248487786	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	148125915	248487786	762835	4	30444											
QPCT	25797	broad.mit.edu	37	chr2	37594451	37594451	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaggcttttcttcactggtCtcctcaagattctctctatg	7	11	6	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:37594451C>G	ENST00000338415.3	+	4	781	c.623C>G	c.(622-624)tCt>tGt	p.S208C	QPCT_ENST00000537448.1_Missense_Mutation_p.S159C	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	208					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTTCACTGGTCTCCTCAAGAT	0.488																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(622-624)tCt>tGt		glutaminyl-peptide cyclotransferase							118	114	115					2																	37594451		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37594451C>G	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.623C>G	2.37:g.37594451C>G	ENSP00000344829:p.Ser208Cys					QPCT_ENST00000537448.1_Missense_Mutation_p.S159C	p.S208C	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			4	781	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	208					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.623C>G	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870071	0.91587	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.23552	1.9;1.9;1.9	5.61	5.61	0.85477	Peptidase M28 (1);	0.051257	0.85682	D	0.000000	T	0.61375	0.2342	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.978;0.987	T	0.68819	-0.5308	10	0.72032	D	0.01	-14.6594	19.6372	0.95737	0.0:1.0:0.0:0.0	.	159;208	Q16769-2;Q16769	.;QPCT_HUMAN	C	208;159;159	ENSP00000344829:S208C;ENSP00000385391:S159C;ENSP00000441606:S159C	ENSP00000344829:S208C	S	+	2	0	QPCT	37447955	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.687000	0.84139	2.642000	0.89623	0.561000	0.74099	TCT		0.488	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			28	46	0	0	0	1	0	28	46					G	37594451	C	G	37594451	3	3	293	1	0	0	0	0	1	0	0	0	12874	913	32	4	637	4	QPCT	2	37594451	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		37594451	205604922	5	30445											
COL6A3	1293	broad.mit.edu	37	chr2	238249144	238249144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcatcaaaggctcctcGttgagctcggtggacttgtc	12	11	1	1	rs375442243		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:238249144G>A	ENST00000295550.4	-	38	8867	c.8415C>T	c.(8413-8415)aaC>aaT	p.N2805N	COL6A3_ENST00000353578.4_Silent_p.N2599N|COL6A3_ENST00000347401.3_Silent_p.N2604N|COL6A3_ENST00000346358.4_Silent_p.N2605N|COL6A3_ENST00000409809.1_Silent_p.N2599N|COL6A3_ENST00000472056.1_Silent_p.N2198N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2805	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.		N -> T (in dbSNP:rs35848091).		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)		AAGGCTCCTCGTTGAGCTCGG	0.557																																						ENST00000295550.4																			0				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						c.(8413-8415)aaC>aaT		collagen, type VI, alpha 3		G	,,	0,4406		0,0,2203	88	79	82		8415,6594,7797	0.8	1	2		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	2805/3178,2198/2571,2599/2972	238249144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249144G>A	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.8415C>T	2.37:g.238249144G>A						COL6A3_ENST00000353578.4_Silent_p.N2599N|COL6A3_ENST00000347401.3_Silent_p.N2604N|COL6A3_ENST00000346358.4_Silent_p.N2605N|COL6A3_ENST00000472056.1_Silent_p.N2198N|COL6A3_ENST00000409809.1_Silent_p.N2599N	p.N2805N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	38	8867	-		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)	2805		N -> T (in dbSNP:rs35848091).	Nonhelical region.|VWFA 12.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.8415C>T	CCDS33412.1																																																																																				0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		34	47	0	0	0	1	0	34	47					A	238249144	G	A	238249144	2	1	293	1	0	0	0	0	0	0	0	1	3701	1136	40	1		1	COL6A3	2	238249144	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	200654693	238249144	4950229	6	30446											
KCNH8	131096	broad.mit.edu	37	chr3	19575087	19575087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctacacttgcaaacaggCggggctgcttatacccaagc	10	13	0	0	rs151258565	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:19575087C>T	ENST00000328405.2	+	16	3086	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	940					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		18580	0.0		0.001	False		,,,				2504	0.0				NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2818-2820)ggC>ggT		potassium voltage-gated channel, subfamily H (eag-related), member 8		C		2,4404	4.2+/-10.8	0,2,2201	81	79	79		2820	-7.2	0	3	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	KCNH8	NM_144633.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		940/1108	19575087	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19575087C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2820C>T	3.37:g.19575087C>T							p.G940G	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3086	+			940					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.2820C>T	CCDS2632.1																																																																																				0.542	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		33	44	0	0	0	1	0	33	44					T	19575087	C	T	19575087	2	4	293	1	0	0	0	0	0	0	0	1	8038	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19575087	178447343	7	30447											
PLD1	5337	broad.mit.edu	37	chr3	171330202	171330202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctttcccagcatgctgcGgtcatttatgttggcagagc	11	11	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:171330202G>A	ENST00000351298.4	-	25	2875	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	PLD1_ENST00000356327.5_Missense_Mutation_p.R879C|PLD1_ENST00000340989.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	917	Catalytic.|PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(2635-2637)Cgc>Tgc		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						107	93	98					3																	171330202		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171330202G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2749C>T	3.37:g.171330202G>A	ENSP00000342793:p.Arg917Cys					PLD1_ENST00000340989.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.R917C	p.R879C	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	2705	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		917			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2635C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120228	0.77323	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.32023	1.47;1.47;1.47	5.57	4.61	0.57282	Phospholipase D/Transphosphatidylase (2);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	H	0.98682	4.3	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	0.84180	0.0439	10	0.87932	D	0	-12.4302	17.1449	0.86764	0.0:0.0:0.8651:0.1349	.	917;902;917	Q13393-4;Q59EA4;Q13393	.;.;PLD1_HUMAN	C	879;917;917	ENSP00000348681:R879C;ENSP00000342793:R917C;ENSP00000340326:R917C	ENSP00000340326:R917C	R	-	1	0	PLD1	172812896	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.060000	0.49955	2.606000	0.88127	0.650000	0.86243	CGC		0.493	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		7	49	0	0	0	1	0	7	49					A	171330202	G	A	171330202	3	1	293	1	0	0	0	0	1	0	0	0	12045	1116	39	1	487	1	PLD1	3	171330202	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	151755115	171330202	26692228	8	30448											
QDPR	5860	broad.mit.edu	37	chr4	17513644	17513644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccgtacaccagcacccGgcgcgcctcgcctgcagccg	12	21	0	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:17513644G>A	ENST00000281243.5	-	1	213	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	QDPR_ENST00000428702.2_Missense_Mutation_p.R12W|QDPR_ENST00000513615.1_Missense_Mutation_p.R12W|QDPR_ENST00000508623.1_Missense_Mutation_p.R12W	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	12					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						ACCAGCACCCGGCGCGCCTCG	0.756																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(34-36)Cgg>Tgg		quinoid dihydropteridine reductase	NADH(DB00157)						9	14	12					4																	17513644		1890	3850	5740	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17513644G>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.34C>T	4.37:g.17513644G>A	ENSP00000281243:p.Arg12Trp					QDPR_ENST00000513615.1_Missense_Mutation_p.R12W|QDPR_ENST00000428702.2_Missense_Mutation_p.R12W|QDPR_ENST00000508623.1_Missense_Mutation_p.R12W	p.R12W	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			1	213	-			12					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.34C>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996329	0.54147	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.01	1.11	0.20524	NAD(P)-binding domain (1);	0.125442	0.50627	D	0.000112	D	0.96682	0.8917	M	0.86343	2.81	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.924	D	0.95396	0.8486	10	0.66056	D	0.02	-10.1967	9.1494	0.36953	0.0:0.121:0.4054:0.4736	.	12;12	B3KW71;P09417	.;DHPR_HUMAN	W	12	ENSP00000422759:R12W;ENSP00000281243:R12W;ENSP00000390944:R12W;ENSP00000426377:R12W	ENSP00000281243:R12W	R	-	1	2	QDPR	17122742	1.000000	0.71417	0.998000	0.56505	0.301000	0.27625	1.463000	0.35277	0.347000	0.23924	-0.127000	0.14921	CGG		0.756	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		19	19	0	0	0	1	0	19	19					A	17513644	G	A	17513644	3	1	293	1	0	0	0	0	1	0	0	0	12872	1115	39	1	728	1	QDPR	4	17513644	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		17513644	173640632	9	30449											
TECRL	253017	broad.mit.edu	37	chr4	65180375	65180375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatcacttactgtaccactGggtggcgtaatcttctagca	9	10	3	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:65180375G>T	ENST00000381210.3	-	5	652	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P181Q	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(541-543)cCa>cAa		trans-2,3-enoyl-CoA reductase-like							93	86	89					4																	65180375		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65180375G>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.542C>A	4.37:g.65180375G>T	ENSP00000370607:p.Pro181Gln					TECRL_ENST00000507440.1_Missense_Mutation_p.P181Q|TECRL_ENST00000513125.1_5'UTR	p.P181Q	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			5	652	-			181						Missense_Mutation	SNP	ENST00000381210.3	37	c.542C>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077401	0.36662	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.40476	1.03;1.03	5.7	4.86	0.63082	.	0.254563	0.39210	N	0.001435	T	0.45115	0.1326	L	0.49571	1.57	0.36869	D	0.888806	P;P	0.48503	0.911;0.8	P;P	0.50896	0.653;0.467	T	0.47935	-0.9078	10	0.20519	T	0.43	-0.5415	11.737	0.51771	0.0823:0.0:0.9177:0.0	.	181;181	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	Q	181	ENSP00000426043:P181Q;ENSP00000370607:P181Q	ENSP00000370607:P181Q	P	-	2	0	TECRL	64862970	1.000000	0.71417	0.953000	0.39169	0.498000	0.33706	3.129000	0.50500	1.411000	0.46957	0.591000	0.81541	CCA		0.438	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		7	18	1	0	0.00198382	1	0.00203817	7	18					T	65180375	G	T	65180375	3	4	293	1	0	0	0	0	1	0	0	0	15743	1348	47	4	581	4	TECRL	4	65180375	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	47666731	65180375	125973901	10	30450											
CSN3	1448	broad.mit.edu	37	chr4	71114862	71114862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatccatatgtgcctcgcAcatattatgcaaacccagct	5	12	0	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:71114862A>G	ENST00000304954.3	+	4	321	c.235A>G	c.(235-237)Aca>Gca	p.T79A		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTGCCTCGCACATATTATGC	0.448																																						ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(235-237)Aca>Gca		casein kappa							122	111	115					4																	71114862		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114862A>G	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.235A>G	4.37:g.71114862A>G	ENSP00000304822:p.Thr79Ala						p.T79A	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			4	321	+			79					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.235A>G	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	A	9.821	1.185876	0.21870	.	.	ENSG00000171209	ENST00000304954	T	0.21734	1.99	4.51	0.484	0.16825	.	0.977836	0.08396	N	0.952140	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.32798	-0.9893	10	0.72032	D	0.01	-24.2922	7.7706	0.29006	0.4759:0.3825:0.1416:0.0	.	79	P07498	CASK_HUMAN	A	79	ENSP00000304822:T79A	ENSP00000304822:T79A	T	+	1	0	CSN3	71149451	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.097000	0.11042	0.057000	0.16193	-1.301000	0.01330	ACA		0.448	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		29	33	0	0	0	1	0	29	33					G	71114862	A	G	71114862	3	3	293	1	0	0	0	0	1	0	0	0	3949	159	6	3	245	3	CSN3	4	71114862	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	5934487	71114862	120039414	11	30451											
BTC	685	broad.mit.edu	37	chr4	75673309	75673309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttatatctttacccagaGtttccatttcttcttctttc	4	10	4	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:75673309G>T	ENST00000395743.3	-	5	839	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	160					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 apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTACCCAGAGTTTCCATTTC	0.353																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(478-480)aCt>aAt		betacellulin							143	144	144					4																	75673309		2202	4299	6501	SO:0001583	missense	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75673309G>T	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.479C>A	4.37:g.75673309G>T	ENSP00000379092:p.Thr160Asn						p.T160N	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		5	839	-			160					Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	c.479C>A	CCDS3566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.728|8.728	0.915867|0.915867	0.17907|0.17907	.|.	.|.	ENSG00000174808|ENSG00000174808	ENST00000512743|ENST00000395743	.|T	.|0.10099	.|2.91	4.84|4.84	3.98|3.98	0.46160|0.46160	.|.	.|0.434135	.|0.23930	.|N	.|0.043150	T|T	0.08088|0.08088	0.0202|0.0202	L|L	0.29908|0.29908	0.895|0.895	0.32294|0.32294	N|N	0.565932|0.565932	.|B	.|0.19073	.|0.033	.|B	.|0.19946	.|0.027	T|T	0.14420|0.14420	-1.0473|-1.0473	5|10	.|0.15952	.|T	.|0.53	-14.5819|-14.5819	11.0113|11.0113	0.47665|0.47665	0.0:0.0:0.8128:0.1872|0.0:0.0:0.8128:0.1872	.|.	.|160	.|P35070	.|BTC_HUMAN	I|N	90|160	.|ENSP00000379092:T160N	.|ENSP00000379092:T160N	L|T	-|-	1|2	0|0	BTC|BTC	75892333|75892333	0.910000|0.910000	0.30920|0.30920	0.971000|0.971000	0.41717|0.41717	0.133000|0.133000	0.20885|0.20885	0.877000|0.877000	0.28106|0.28106	1.305000|1.305000	0.44909|0.44909	0.655000|0.655000	0.94253|0.94253	CTC|ACT		0.353	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			7	13	1	0	8.12818e-05	1	8.46686e-05	7	13					T	75673309	G	T	75673309	3	4	293	1	0	0	0	0	1	0	0	0	1549	1029	36	4	61	4	BTC	4	75673309	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	4558447	75673309	115480967	12	30452											
PPEF2	5470	broad.mit.edu	37	chr4	76787356	76787356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttacctcgcgactcagttGttccttggccaagttcttca	8	13	3	0	rs539493453	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:76787356G>T	ENST00000286719.7	-	15	2262	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	636					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)			CGACTCAGTTGTTCCTTGGCC	0.493													G|||	8	0.00159744	0.0	0.0	5008	,	,		21576	0.0		0.0	False		,,,				2504	0.0082				NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				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						c.(1906-1908)Caa>Aaa		protein phosphatase, EF-hand calcium binding domain 2							263	217	233					4																	76787356		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76787356G>T	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.1906C>A	4.37:g.76787356G>T	ENSP00000286719:p.Gln636Lys						p.Q636K	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	2262	-			636					O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1906C>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303960	0.01353	.	.	ENSG00000156194	ENST00000286719	T	0.41400	1.0	4.67	3.82	0.43975	.	0.237586	0.34507	U	0.003910	T	0.22704	0.0548	N	0.13098	0.295	0.18873	N	0.999988	B	0.09022	0.002	B	0.06405	0.002	T	0.15378	-1.0439	10	0.08179	T	0.78	-9.2524	11.9221	0.52797	0.0:0.0:0.8249:0.1751	.	636	O14830	PPE2_HUMAN	K	636	ENSP00000286719:Q636K	ENSP00000286719:Q636K	Q	-	1	0	PPEF2	77006380	0.776000	0.28616	0.071000	0.20095	0.637000	0.38172	1.612000	0.36889	1.168000	0.42723	0.491000	0.48974	CAA		0.493	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		65	85	1	0	1.05635e-38	1	1.23791e-38	65	85					T	76787356	G	T	76787356	3	4	293	1	0	0	0	0	1	0	0	0	12308	1386	48	4	367	4	PPEF2	4	76787356	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	1114047	76787356	114366920	13	30453											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99300314	99300314	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactatagcaatgagaatGgtaaacaaaactgaaaactt	7	5	0	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:99300314G>A	ENST00000408927.3	+	5	621	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000453712.2_Splice_Site_p.D171N|RAP1GDS1_ENST00000339360.5_Splice_Site_p.D171N|RAP1GDS1_ENST00000512857.1_Intron	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	170					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAATGAGAATGGTAAACAAAA	0.333			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"RAP1, GTP-GDP dissociation stimulator 1"			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.e5+1		RAP1, GTP-GDP dissociation stimulator 1							148	141	143					4																	99300314		1860	4094	5954	SO:0001630	splice_region_variant	5910						binding|GTPase activator activity	g.chr4:99300314G>A		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.508+1G>A	4.37:g.99300314G>A						RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000453712.2_Splice_Site_p.D171_splice|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000339360.5_Splice_Site_p.D171_splice	p.D170_splice	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	5	621	+			170					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Splice_Site	SNP	ENST00000408927.3	37	c.508_splice	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853728	0.71719	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T;T	0.69435	0.7;-0.4;-0.4;0.7;-0.4	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	L	0.36672	1.1	0.80722	D	1	D;B;P;B	0.69078	0.997;0.446;0.944;0.446	D;B;P;B	0.77004	0.989;0.289;0.548;0.195	T	0.71097	-0.4691	10	0.29301	T	0.29	-13.8944	19.5251	0.95201	0.0:0.0:1.0:0.0	.	170;171;171;170	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	N	129;170;171;129;171	ENSP00000426096:D129N;ENSP00000386153:D170N;ENSP00000407157:D171N;ENSP00000421599:D129N;ENSP00000340454:D171N	ENSP00000340454:D171N	D	+	1	0	RAP1GDS1	99519337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.678000	0.91216	0.655000	0.94253	GAT		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	Missense_Mutation	23	50	0	0	0	1	0	23	50					A	99300314	G	A	99300314	5	1	293	1	0	0	0	0	0	0	1	0	13039	1362	47	2	529	2	RAP1GDS1	4	99300314	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	22512958	99300314	91853962	14	30454											
SPEF2	79925	broad.mit.edu	37	chr5	35692734	35692734	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagctatccaagcatttcatGacaatgaaaaagtcagtgag	8	7	2	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:35692734G>A	ENST00000356031.3	+	12	1961	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SPEF2_ENST00000509059.1_Missense_Mutation_p.D603N|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.D603N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	603					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATTTCATGACAATGAAAA	0.343																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1807-1809)Gac>Aac		sperm flagellar 2							91	95	94					5																	35692734		1835	4076	5911	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35692734G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1807G>A	5.37:g.35692734G>A	ENSP00000348314:p.Asp603Asn					SPEF2_ENST00000509059.1_Missense_Mutation_p.D603N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D603N|CTD-2113L7.1_ENST00000510433.1_RNA	p.D603N			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	1807	+	all_lung(31;7.56e-05)		603					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1807G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401624	0.25291	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.81	0.394	0.16299	.	0.684388	0.14217	N	0.333670	T	0.16642	0.0400	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.007	B;B;B	0.11329	0.002;0.006;0.005	T	0.31696	-0.9934	10	0.10111	T	0.7	.	10.89	0.46990	0.3516:0.0:0.6484:0.0	.	603;603;603	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	N	603;603;603;114	ENSP00000348314:D603N;ENSP00000421593:D603N;ENSP00000412125:D603N;ENSP00000421744:D114N	ENSP00000348314:D603N	D	+	1	0	SPEF2	35728491	0.392000	0.25229	0.045000	0.18777	0.904000	0.53231	0.329000	0.19698	0.111000	0.17947	0.585000	0.79938	GAC		0.343	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		27	34	0	0	0	1	0	27	34					A	35692734	G	A	35692734	3	1	293	1	0	0	0	0	1	0	0	0	15034	1290	45	2	1874	2	SPEF2	5	35692734	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35692734	145222526	15	30455											
FAT2	2196	broad.mit.edu	37	chr5	150948306	150948306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcccactgtggctccgCgaggtagatgcccattttct	10	14	1	1	rs201874812		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:150948306C>T	ENST00000261800.5	-	1	199	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	63	Cadherin 1. {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)			TGTGGCTCCGCGAGGTAGATG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		21738	0.0		0.001	False		,,,				2504	0.0					ENST00000261800.5																			0				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						c.(187-189)Gcg>Acg		FAT atypical cadherin 2							155	156	156					5																	150948306		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150948306C>T	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.187G>A	5.37:g.150948306C>T	ENSP00000261800:p.Ala63Thr						p.A63T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	199	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	63			Cadherin 1.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.187G>A	CCDS4317.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.065	-1.213866	0.01555	.	.	ENSG00000086570	ENST00000261800	T	0.69806	-0.43	5.36	2.53	0.30540	Cadherin (3);Cadherin-like (1);	0.469539	0.21631	N	0.071488	T	0.31040	0.0784	N	0.02985	-0.445	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.25117	-1.0141	10	0.06236	T	0.91	.	3.6824	0.08316	0.1633:0.4542:0.0:0.3825	.	63	Q9NYQ8	FAT2_HUMAN	T	63	ENSP00000261800:A63T	ENSP00000261800:A63T	A	-	1	0	FAT2	150928499	0.000000	0.05858	0.001000	0.08648	0.930000	0.56654	-0.025000	0.12413	0.214000	0.20742	-0.314000	0.08810	GCG		0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		56	105	0	0	0	1	0	56	105					T	150948306	C	T	150948306	3	4	293	1	0	0	0	0	1	0	0	0	5690	768	27	1	12954	1	FAT2	5	150948306	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	115255572	150948306	29966954	16	30456											
C6orf97	80129	broad.mit.edu	37	chr6	151914325	151914325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgacatgcggctggaCgtggttttagctcgaacaga	14	8	0	2	rs113968720	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr6:151914325C>T	ENST00000239374.7	+	8	1476	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	CCDC170_ENST00000367290.5_Silent_p.D459D	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	459								p.D459E(1)									TGCGGCTGGACGTGGTTTTAG	0.453													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.001					ENST00000367290.5																			1	Substitution - Missense(1)	p.D459E(1)	urinary_tract(1)								c.(1375-1377)gaC>gaT		coiled-coil domain containing 170		C		1,3849		0,1,1924	102	95	97		1377	-3	0.3	6	dbSNP_132	97	0,8292		0,0,4146	no	coding-synonymous	C6orf97	NM_025059.3		0,1,6070	TT,TC,CC		0.0,0.026,0.0082		459/716	151914325	1,12141	1925	4146	6071	SO:0001819	synonymous_variant	80129							g.chr6:151914325C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1377C>T	6.37:g.151914325C>T						CCDC170_ENST00000239374.7_Silent_p.D459D	p.D459D			Q8IYT3	CF097_HUMAN			8	1466	+			459					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1377C>T	CCDS43515.1																																																																																				0.453	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		23	31	0	0	0	1	0	23	31					T	151914325	C	T	151914325	2	4	293	1	0	0	0	0	0	0	0	1	2374	535	19	1		1	C6orf97	6	151914325	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		151914325	19200742	17	30457											
TNRC18	84629	broad.mit.edu	37	chr7	5372548	5372548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctggggtcgggaccgCgggcgccaggcgtgggtgcg	23	11	0	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:5372548C>T	ENST00000430969.1	-	19	6200	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1951H	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1951							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)		GTCGGGACCGCGGGCGCCAGG	0.751																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(5851-5853)cGc>cAc		trinucleotide repeat containing 18							3	4	4					7																	5372548		1380	3142	4522	SO:0001583	missense	84629						DNA binding	g.chr7:5372548C>T	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.5852G>A	7.37:g.5372548C>T	ENSP00000395538:p.Arg1951His					TNRC18_ENST00000430969.1_Missense_Mutation_p.R1951H	p.R1951H			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	19	6200	-		Ovarian(82;0.142)	1951					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.5852G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	.	2.720	-0.266842	0.05754	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.12879	2.64;2.64	3.86	2.84	0.33178	.	0.573708	0.13191	N	0.406756	T	0.09949	0.0244	L	0.36672	1.1	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.17592	-1.0364	10	0.56958	D	0.05	.	3.9891	0.09529	0.3665:0.4955:0.0:0.138	.	1951	O15417	TNC18_HUMAN	H	1951;1951;1006	ENSP00000382452:R1951H;ENSP00000395538:R1951H	ENSP00000382452:R1951H	R	-	2	0	TNRC18	5339074	1.000000	0.71417	0.039000	0.18376	0.064000	0.16182	1.682000	0.37628	1.694000	0.51137	0.313000	0.20887	CGC		0.751	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	21	0	0	0	1	0	6	21					T	5372548	C	T	5372548	3	4	293	1	0	0	0	0	1	0	0	0	16336	768	27	1	3102	1	TNRC18	7	5372548	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5372548	153766115	18	30458											
VWC2	375567	broad.mit.edu	37	chr7	49842318	49842318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttcaggtgtctccatgCgagaggtgtcgctgtgaagc	15	8	2	2	rs201624892		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	236	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(706-708)tgC>tgT		von Willebrand factor C domain containing 2		C		0,4406		0,0,2203	235	190	205		708	-2.6	0.9	7		205	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	VWC2	NM_198570.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		236/326	49842318	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842318C>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.708C>T	7.37:g.49842318C>T							p.C236C	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			3	1264	+			236			VWFC 2.		Q6UXE2	Silent	SNP	ENST00000340652.4	37	c.708C>T	CCDS5508.1																																																																																				0.507	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		33	181	0	0	0	1	0	33	181					T	49842318	C	T	49842318	2	4	293	1	0	0	0	0	0	0	0	1	17240	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	44469770	49842318	109296345	19	30459											
COBL	23242	broad.mit.edu	37	chr7	51097053	51097053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctcagcttgaagtggCgccagggagtctctcctgct	13	12	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:51097053C>T	ENST00000265136.7	-	10	1905	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	COBL_ENST00000395542.2_Silent_p.A662A	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	580					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGAAGTGGCGCCAGGGAGT	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1984-1986)gcG>gcA		cordon-bleu WH2 repeat protein							63	52	56					7																	51097053		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51097053C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1740G>A	7.37:g.51097053C>T						COBL_ENST00000265136.7_Silent_p.A580A	p.A662A			O75128	COBL_HUMAN			12	2170	-	Glioma(55;0.08)		580					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1986G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	5.692	0.312205	0.10789	.	.	ENSG00000106078	ENST00000452534	T	0.21932	1.98	5.73	-9.42	0.00610	.	1.771380	0.03110	N	0.162290	T	0.06872	0.0175	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20075	-1.0286	7	0.09338	T	0.73	.	4.5312	0.12006	0.0729:0.2147:0.2641:0.4482	.	.	.	.	T	556	ENSP00000405059:A556T	ENSP00000405059:A556T	A	-	1	0	COBL	51064547	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.030000	0.01429	-2.206000	0.00741	-0.781000	0.03364	GCC		0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		19	61	0	0	0	1	0	19	61					T	51097053	C	T	51097053	2	4	293	1	0	0	0	0	0	0	0	1	3653	755	27	1		1	COBL	7	51097053	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1254735	51097053	108041610	20	30460											
ZNF679	168417	broad.mit.edu	37	chr7	63726330	63726330	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctaggcataaaagattcaCtccaaaaagtaataccaaga	6	8	1	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:63726330C>G	ENST00000421025.1	+	5	588	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	ZNF679_ENST00000255746.4_Missense_Mutation_p.L107V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	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)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAAAGATTCACTCCAAAAAGT	0.378																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(319-321)Ctc>Gtc		zinc finger protein 679							110	95	99					7																	63726330		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726330C>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.319C>G	7.37:g.63726330C>G	ENSP00000416809:p.Leu107Val					ZNF679_ENST00000255746.4_Missense_Mutation_p.L107V	p.L107V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	588	+			107						Missense_Mutation	SNP	ENST00000421025.1	37	c.319C>G	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	5.630	0.300923	0.10678	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.06294	3.32;3.32	0.819	0.819	0.18785	.	.	.	.	.	T	0.12860	0.0312	L	0.40543	1.245	0.09310	N	1	D	0.69078	0.997	D	0.72625	0.978	T	0.17684	-1.0361	9	0.66056	D	0.02	.	4.7943	0.13265	0.0:1.0:0.0:0.0	.	107	Q8IYX0	ZN679_HUMAN	V	107	ENSP00000416809:L107V;ENSP00000255746:L107V	ENSP00000255746:L107V	L	+	1	0	ZNF679	63363765	0.000000	0.05858	0.032000	0.17829	0.032000	0.12392	-0.812000	0.04496	0.191000	0.20236	0.194000	0.17425	CTC		0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		8	17	0	0	0	1	0	8	17					G	63726330	C	G	63726330	3	3	293	1	0	0	0	0	1	0	0	0	18083	565	20	4	333	4	ZNF679	7	63726330	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	12629277	63726330	95412333	21	30461											
DLC1	10395	broad.mit.edu	37	chr8	12957837	12957837	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagcttcaggctctccatcCgtttcagcagactgcgcgtc	10	14	3	2	rs574001055		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr8:12957837C>G	ENST00000276297.4	-	9	2418	c.2009G>C	c.(2008-2010)cGg>cCg	p.R670P	DLC1_ENST00000358919.2_Missense_Mutation_p.R233P|DLC1_ENST00000512044.2_Missense_Mutation_p.R267P|DLC1_ENST00000520226.1_Missense_Mutation_p.R159P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	670					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						GCTCTCCATCCGTTTCAGCAG	0.562																																						ENST00000276297.4																			0				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						c.(2008-2010)cGg>cCg		deleted in liver cancer 1							124	113	117					8																	12957837		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957837C>G	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.2009G>C	8.37:g.12957837C>G	ENSP00000276297:p.Arg670Pro					DLC1_ENST00000520226.1_Missense_Mutation_p.R159P|DLC1_ENST00000358919.2_Missense_Mutation_p.R233P|DLC1_ENST00000512044.2_Missense_Mutation_p.R267P	p.R670P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2418	-			670					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2009G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407574	0.83340	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.13089	2.9;2.64;2.62;2.63	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.985;0.988;0.994	T	0.46005	-0.9222	10	0.87932	D	0	.	18.5404	0.91025	0.0:1.0:0.0:0.0	.	670;267;233	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	P	670;233;267;159	ENSP00000276297:R670P;ENSP00000351797:R233P;ENSP00000422595:R267P;ENSP00000428028:R159P	ENSP00000276297:R670P	R	-	2	0	DLC1	13002208	1.000000	0.71417	0.729000	0.30791	0.997000	0.91878	5.879000	0.69690	2.683000	0.91414	0.655000	0.94253	CGG		0.562	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		105	88	0	0	0	1	0	105	88					G	12957837	C	G	12957837	3	3	293	1	0	0	0	0	1	0	0	0	4550	652	23	4	2617	4	DLC1	8	12957837	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		12957837	133406185	22	30462											
DOCK8	81704	broad.mit.edu	37	chr9	463659	463659	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattccagaactgtacaagCcaatattcagagttgagagt	8	7	1	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:463659C>A	ENST00000453981.1	+	47	6323	c.6211C>A	c.(6211-6213)Cca>Aca	p.P2071T	DOCK8_ENST00000469391.1_Missense_Mutation_p.P1971T|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1538T|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000432829.2_Missense_Mutation_p.P2003T|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2071					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)		ACTGTACAAGCCAATATTCAG	0.478																																						ENST00000432829.2																			0				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						c.(6007-6009)Cca>Aca		dedicator of cytokinesis 8							52	54	54					9																	463659		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:463659C>A	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.6211C>A	9.37:g.463659C>A	ENSP00000408464:p.Pro2071Thr					DOCK8_ENST00000469391.1_Missense_Mutation_p.P1971T|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.P2071T|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1538T|RP11-165F24.3_ENST00000589287.1_RNA	p.P2003T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	47	6323	+		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)	2071					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.6007C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877175	0.51801	.	.	ENSG00000107099	ENST00000453981;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.67345	2.6;2.6;2.63;-0.26	5.16	5.16	0.70880	.	0.112689	0.64402	D	0.000008	T	0.60495	0.2273	L	0.46157	1.445	0.58432	D	0.999994	B;B;B	0.19706	0.038;0.008;0.008	B;B;B	0.19148	0.024;0.024;0.024	T	0.59920	-0.7363	10	0.59425	D	0.04	.	13.5753	0.61870	0.1556:0.8444:0.0:0.0	.	1971;1538;2071	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	T	2071;2003;1971;1538	ENSP00000408464:P2071T;ENSP00000394888:P2003T;ENSP00000419438:P1971T;ENSP00000371766:P1538T	ENSP00000371766:P1538T	P	+	1	0	DOCK8	453659	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.310000	0.59141	2.577000	0.86979	0.655000	0.94253	CCA		0.478	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		4	29	1	0	0.00909568	1	0.00921859	4	29					A	463659	C	A	463659	3	1	293	1	0	0	0	0	1	0	0	0	4693	739	26	4	6397	4	DOCK8	9	463659	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		463659	140749772	23	30463											
RRAGA	10670	broad.mit.edu	37	chr9	19049841	19049841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acctggtgctgaacctgtggGactgtggcggtcaggacacc	15	11	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:19049841G>T	ENST00000380527.1	+	1	470	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_006570.4	NP_006561.1			Ras-related GTP binding A											endometrium(1)|large_intestine(1)|lung(1)	3						GAACCTGTGGGACTGTGGCGG	0.542																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(184-186)Gac>Tac		Ras-related GTP binding A							70	64	66					9																	19049841		2203	4300	6503	SO:0001583	missense	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19049841G>T	BC006433	CCDS6488.1	9p21.3	2008-02-05			ENSG00000155876	ENSG00000155876			16963	protein-coding gene	gene with protein product		612194				7499430, 8995684	Standard	NM_006570		Approved	RAGA, FIP-1	uc003znj.3	Q7L523	OTTHUMG00000019621	ENST00000380527.1:c.184G>T	9.37:g.19049841G>T	ENSP00000369899:p.Asp62Tyr						p.D62Y	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	470	+			62						Missense_Mutation	SNP	ENST00000380527.1	37	c.184G>T	CCDS6488.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937397	0.73557	.	.	ENSG00000155876	ENST00000380527	D	0.83163	-1.69	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95812	0.8842	10	0.87932	D	0	0.1484	15.0921	0.72204	0.0:0.0:1.0:0.0	.	62	Q7L523	RRAGA_HUMAN	Y	62	ENSP00000369899:D62Y	ENSP00000369899:D62Y	D	+	1	0	RRAGA	19039841	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.197000	0.94985	2.700000	0.92200	0.561000	0.74099	GAC		0.542	RRAGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051824.1	NM_006570		16	7	1	0	1.99824e-07	1	2.23683e-07	16	7					T	19049841	G	T	19049841	3	4	293	1	0	0	0	0	1	0	0	0	13672	1174	41	4	186	4	RRAGA	9	19049841	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	18586182	19049841	122163590	24	30464											
RUSC2	9853	broad.mit.edu	37	chr9	35560371	35560371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaagaggaagaggaagaagAggagacagaagaggtggcag	19	2	0	8			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:35560371A>T	ENST00000455600.1	+	10	4303	c.3734A>T	c.(3733-3735)gAg>gTg	p.E1245V	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1245	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			gaggaagaagaggagacagaa	0.682																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3733-3735)gAg>gTg		RUN and SH3 domain containing 2							23	29	27					9																	35560371		2199	4289	6488	SO:0001583	missense	9853					cytosol		g.chr9:35560371A>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3734A>T	9.37:g.35560371A>T	ENSP00000393922:p.Glu1245Val						p.E1245V	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4303	+			1245			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3734A>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	A	7.609	0.674408	0.14841	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.24350	1.86;1.86	4.88	3.7	0.42460	.	0.562162	0.15364	N	0.266216	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	B	0.31153	0.31	B	0.28638	0.092	T	0.17745	-1.0359	10	0.42905	T	0.14	-6.1482	5.5333	0.16997	0.5695:0.3406:0.0899:0.0	.	1245	Q8N2Y8	RUSC2_HUMAN	V	1245	ENSP00000355177:E1245V;ENSP00000393922:E1245V	ENSP00000355177:E1245V	E	+	2	0	RUSC2	35550371	0.835000	0.29415	0.105000	0.21289	0.878000	0.50629	0.348000	0.20031	0.684000	0.31448	0.254000	0.18369	GAG		0.682	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		24	35	0	0	0	1	0	24	35					T	35560371	A	T	35560371	3	4	293	1	0	0	0	0	1	0	0	0	13751	304	11	5	3768	5	RUSC2	9	35560371	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	16510530	35560371	105653060	25	30465											
OR13C3	138803	broad.mit.edu	37	chr9	107298219	107298219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaatcaggtcttgagacttCggtttcgcatacataaagaa	8	9	2	2	rs145221004	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292						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(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													c|||	8	0.00159744	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.0082				GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(874-876)ccG>ccA		olfactory receptor, family 13, subfamily C, member 3		C		0,4406		0,0,2203	142	134	137		876	-1.6	0.1	9	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C3	NM_001001961.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		292/348	107298219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298219C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.876G>A	9.37:g.107298219C>T							p.P292P	NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN			1	918	-			292					Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.876G>A	CCDS35089.1																																																																																				0.438	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			39	68	0	0	0	1	0	39	68					T	107298219	C	T	107298219	2	4	293	1	0	0	0	0	0	0	0	1	10935	871	31	1		1	OR13C3	9	107298219	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	71737848	107298219	33915212	26	30466											
ANK3	288	broad.mit.edu	37	chr10	61835813	61835813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccagcccttttaagggcGtagcttccgtgactgctgga	12	11	0	1	rs148024054	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:61835813G>A	ENST00000280772.2	-	37	5017	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1609	Ser-rich.				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						TTTTAAGGGCGTAGCTTCCGT	0.473													G|||	6	0.00119808	0.0038	0.0	5008	,	,		19100	0.0		0.0	False		,,,				2504	0.001					ENST00000280772.1																			0				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						c.(4825-4827)aCg>aTg		ankyrin 3, node of Ranvier (ankyrin G)		G	,,,MET/THR	6,4400	11.4+/-27.6	0,6,2197	112	109	110		,,,4826	2.7	0.1	10	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	yes	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,81	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	,,,probably-damaging	,,,1609/4378	61835813	7,12999	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835813G>A	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.4826C>T	10.37:g.61835813G>A	ENSP00000280772:p.Thr1609Met					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.T1609M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5017	-			1609			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4826C>T	CCDS7258.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.778	0.512395	0.12944	0.001362	1.16E-4	ENSG00000151150	ENST00000280772	T	0.64085	-0.08	5.79	2.69	0.31865	.	1.215670	0.06388	N	0.716462	T	0.57257	0.2041	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49670	-0.8915	10	0.59425	D	0.04	.	11.1778	0.48610	0.204:0.0:0.796:0.0	.	1609	Q12955	ANK3_HUMAN	M	1609	ENSP00000280772:T1609M	ENSP00000280772:T1609M	T	-	2	0	ANK3	61505819	0.995000	0.38212	0.059000	0.19551	0.962000	0.63368	3.181000	0.50903	0.281000	0.22233	0.591000	0.81541	ACG		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		52	22	0	0	0	1	0	52	22					A	61835813	G	A	61835813	3	1	293	1	0	0	0	0	1	0	0	0	622	1145	40	1	8648	1	ANK3	10	61835813	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		61835813	73698934	27	30467											
CDHR1	92211	broad.mit.edu	37	chr10	85970774	85970774	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagctcctggctgttgaagtGaacaccccagagaagttcag	11	11	1	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:85970774G>A	ENST00000372117.3	+	13	1441	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	CDHR1_ENST00000332904.3_Silent_p.V446V|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	446	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						CTGTTGAAGTGAACACCCCAG	0.552																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1336-1338)gtG>gtA		cadherin-related family member 1							143	142	142					10																	85970774		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85970774G>A	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.1338G>A	10.37:g.85970774G>A						CDHR1_ENST00000332904.3_Silent_p.V446V|CDHR1_ENST00000440770.2_Intron	p.V446V	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			13	1441	+			446			Cadherin 4.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1338G>A	CCDS7372.1																																																																																				0.552	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		5	112	0	0	0	1	0	5	112					A	85970774	G	A	85970774	2	1	293	1	0	0	0	0	0	0	0	1	3118	1277	45	2		2	CDHR1	10	85970774	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	24134961	85970774	49563973	28	30468											
PTEN	5728	broad.mit.edu	37	chr10	89685307	89685307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaccattacaagataTacaatctgtaagtatgtttt	4	5	1	1	rs398123317		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:89685307T>C	ENST00000371953.3	+	3	1559	c.202T>C	c.(202-204)Tac>Cac	p.Y68H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> H (in CWS1 and BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9600246}.		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.0?(37)|p.Y68H(8)|p.?(6)|p.R55fs*1(5)|p.Y68N(2)|p.Y68fs*5(2)|p.Y27fs*1(2)|p.I67_Y68insY(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(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)		TTACAAGATATACAATCTGTA	0.274		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		66	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(10)|Unknown(6)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(37)|p.Y68H(8)|p.?(6)|p.R55fs*1(5)|p.Y68N(2)|p.Y68fs*5(2)|p.Y27fs*1(2)|p.I67_Y68insY(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(15)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(4)|urinary_tract(2)|breast(2)|large_intestine(1)|soft_tissue(1)|kidney(1)|pancreas(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	GRCh37	CM061927|CM981667	PTEN	M		c.(202-204)Tac>Cac		phosphatase and tensin homolog							41	42	42					10																	89685307		2186	4275	6461	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685307T>C	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.202T>C	10.37:g.89685307T>C	ENSP00000361021:p.Tyr68His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y68H	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	3	1559	+		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)	68		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.202T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403642	0.83230	.	.	ENSG00000171862	ENST00000371953	D	0.98633	-5.04	5.46	5.46	0.80206	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98514	1.0620	9	.	.	.	-6.2149	15.5246	0.75894	0.0:0.0:0.0:1.0	.	68	P60484	PTEN_HUMAN	H	68	ENSP00000361021:Y68H	.	Y	+	1	0	PTEN	89675287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.448000	0.80631	2.072000	0.62099	0.533000	0.62120	TAC		0.274	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		2	2	0	0	0	1	0	2	2					C	89685307	T	C	89685307	3	2	293	1	0	0	0	0	1	0	0	0	12738	1406	49	3	212	3	PTEN	10	89685307	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	3714533	89685307	45849440	29	30469											
HBD	3045	broad.mit.edu	37	chr11	5255603	5255603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaccaactgcatccaCgttcactttgccccacaggg	6	18	2	0	rs369305779	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:5255603C>T	ENST00000380299.3	-	1	275	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	HBD_ENST00000292901.3_Missense_Mutation_p.V21M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	21			V -> E (in Roosevelt; dbSNP:rs34093840). {ECO:0000269|PubMed:952968}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCATCCACGTTCACTTTG	0.507													C|||	8	0.00159744	0.0	0.0	5008	,	,		22904	0.0		0.0	False		,,,				2504	0.0082					ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(61-63)Gtg>Atg		hemoglobin, delta		C	MET/VAL	0,4402		0,0,2201	177	150	159		61	2.7	0	11		159	1,8595	1.2+/-3.3	0,1,4297	no	missense	HBD	NM_000519.3	21	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	21/148	5255603	1,12997	2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255603C>T	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.61G>A	11.37:g.5255603C>T	ENSP00000369654:p.Val21Met					HBD_ENST00000292901.3_Missense_Mutation_p.V21M	p.V21M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	275	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	21		V -> E (in Roosevelt; dbSNP:rs34093840).			Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.61G>A	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994853	0.35226	0.0	1.16E-4	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000417377;ENST00000429817	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.61	2.68	0.31781	Globin-like (1);Globin, structural domain (1);	0.538297	0.19269	N	0.118464	D	0.84179	0.5415	M	0.77313	2.365	0.09310	N	1	P	0.44776	0.843	B	0.31337	0.128	T	0.77895	-0.2417	10	0.87932	D	0	5.7425	6.6476	0.22945	0.3204:0.5958:0.0:0.0839	.	21	P02042	HBD_HUMAN	M	21	ENSP00000292901:V21M;ENSP00000369654:V21M;ENSP00000414741:V21M;ENSP00000393810:V21M	ENSP00000292901:V21M	V	-	1	0	HBD	5212179	0.000000	0.05858	0.001000	0.08648	0.113000	0.19764	0.033000	0.13754	0.627000	0.30340	0.591000	0.81541	GTG		0.507	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		19	37	0	0	0	1	0	19	37					T	5255603	C	T	5255603	3	4	293	1	0	0	0	0	1	0	0	0	6979	536	19	1	394	1	HBD	11	5255603	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5255603	129750913	30	30470											
OR5M1	390168	broad.mit.edu	37	chr11	56380663	56380663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactcagtgatcaccagggCgatgaagagaagacactgtg	12	8	2	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:56380663C>T	ENST00000526538.1	-	1	315	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448																																						ENST00000526538.1																			2	Substitution - Missense(2)	p.A106T(2)	ovary(1)|endometrium(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(316-318)Gcc>Acc		olfactory receptor, family 5, subfamily M, member 1							175	160	165					11																	56380663		1987	4163	6150	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380663C>T	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.316G>A	11.37:g.56380663C>T	ENSP00000435416:p.Ala106Thr						p.A106T	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	315	-			106					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.316G>A	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391105	0.11581	.	.	ENSG00000255012	ENST00000526538	T	0.02140	4.43	3.71	0.674	0.17946	GPCR, rhodopsin-like superfamily (1);	0.403660	0.18179	N	0.149211	T	0.01592	0.0051	N	0.20530	0.585	0.09310	N	1	B	0.19073	0.033	B	0.15052	0.012	T	0.48068	-0.9067	10	0.25751	T	0.34	-20.489	7.8354	0.29368	0.0:0.6151:0.0:0.3849	.	106	Q8NGP8	OR5M1_HUMAN	T	106	ENSP00000435416:A106T	ENSP00000435416:A106T	A	-	1	0	OR5M1	56137239	0.000000	0.05858	0.994000	0.49952	0.854000	0.48673	-2.965000	0.00670	0.293000	0.22520	0.280000	0.19369	GCC		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		20	30	0	0	0	1	0	20	30					T	56380663	C	T	56380663	3	4	293	1	0	0	0	0	1	0	0	0	11172	768	27	1	635	1	OR5M1	11	56380663	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	51125060	56380663	78625853	31	30471											
TUBA3C	7278	broad.mit.edu	37	chr13	19752430	19752430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgacgatctccttgcCgatggtgtaatggcctctgg	13	11	2	0	rs140107190		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr13:19752430C>T	ENST00000400113.3	-	3	435	c.331G>A	c.(331-333)Ggc>Agc	p.G111S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	111					'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)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G111S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCCTTGCCGATGGTGTAA	0.542																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.G111S(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(331-333)Ggc>Agc		tubulin, alpha 3c		C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	221	188	199		331	1.5	1	13	dbSNP_134	199	0,8600		0,0,4300	no	missense	TUBA3C	NM_006001.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	111/451	19752430	2,13004	2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752430C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.331G>A	13.37:g.19752430C>T	ENSP00000382982:p.Gly111Ser						p.G111S	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	435	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	111					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.331G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.974183	0.53720	4.54E-4	0.0	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.75050	-0.9	1.53	1.53	0.23141	.	0.000000	0.48286	U	0.000197	T	0.77909	0.4201	.	.	.	0.46927	D	0.999252	.	.	.	.	.	.	T	0.78991	-0.1985	7	0.87932	D	0	.	9.0464	0.36349	0.0:1.0:0.0:0.0	.	.	.	.	S	111	ENSP00000382982:G111S	ENSP00000354037:G111S	G	-	1	0	TUBA3C	18650430	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.331000	0.72929	1.161000	0.42604	0.423000	0.28283	GGC		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		50	86	0	0	0	1	0	50	86					T	19752430	C	T	19752430	3	4	293	1	0	0	0	0	1	0	0	0	16743	652	23	1	1033	1	TUBA3C	13	19752430	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19752430	95417448	32	30472											
TMEM229B	161145	broad.mit.edu	37	chr14	67940541	67940541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagttcaagttcaccaCgaactcccaggccgctgtga	8	15	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:67940541C>T	ENST00000557006.1	-	4	382	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM229B_ENST00000357461.2_Missense_Mutation_p.V34M			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	34						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGTTCACCACGAACTCCCAG	0.617																																						ENST00000357461.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(100-102)Gtg>Atg		transmembrane protein 229B							52	32	38					14																	67940541		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940541C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.100G>A	14.37:g.67940541C>T	ENSP00000451774:p.Val34Met					TMEM229B_ENST00000557006.1_Missense_Mutation_p.V34M	p.V34M	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN			3	509	-			34						Missense_Mutation	SNP	ENST00000557006.1	37	c.100G>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.162251	0.78226	.	.	ENSG00000198133	ENST00000557006;ENST00000357461;ENST00000554278;ENST00000554480;ENST00000555994;ENST00000557779	.	.	.	4.8	3.91	0.45181	.	0.060032	0.64402	D	0.000003	T	0.73560	0.3602	M	0.66939	2.045	0.58432	D	0.999998	D	0.71674	0.998	D	0.63033	0.91	T	0.74777	-0.3550	9	0.51188	T	0.08	-22.5971	12.8299	0.57740	0.0:0.9205:0.0:0.0795	.	34	Q8NBD8	T229B_HUMAN	M	34	.	ENSP00000350050:V34M	V	-	1	0	TMEM229B	67010294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.917000	0.69989	1.029000	0.39812	0.450000	0.29827	GTG		0.617	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		13	14	0	0	0	1	0	13	14					T	67940541	C	T	67940541	3	4	293	1	0	0	0	0	1	0	0	0	16145	536	19	1	407	1	TMEM229B	14	67940541	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		67940541	39408999	33	30473											
LTBP2	4053	broad.mit.edu	37	chr14	75022287	75022287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtcccgggggcagggCgttggaagagagctggctac	19	10	0	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:75022287C>T	ENST00000261978.4	-	4	1326	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A314T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	314					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGGCAGGGCGTTGGAAGAG	0.652																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(940-942)Gcc>Acc		latent transforming growth factor beta binding protein 2							78	70	72					14																	75022287		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75022287C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.940G>A	14.37:g.75022287C>T	ENSP00000261978:p.Ala314Thr					LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.A314T	p.A314T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	4	1326	-			314					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.940G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	9.076	0.998015	0.19043	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78924	-1.22;-1.22	4.98	4.08	0.47627	.	0.197004	0.24750	U	0.035905	T	0.60894	0.2304	L	0.36672	1.1	0.33502	D	0.590038	D	0.58620	0.983	B	0.37239	0.244	T	0.66416	-0.5929	10	0.16420	T	0.52	.	9.2179	0.37360	0.0:0.774:0.1465:0.0795	.	314	Q14767	LTBP2_HUMAN	T	314	ENSP00000261978:A314T;ENSP00000451477:A314T	ENSP00000261978:A314T	A	-	1	0	LTBP2	74092040	0.996000	0.38824	0.996000	0.52242	0.021000	0.10359	2.647000	0.46639	1.278000	0.44430	-0.492000	0.04666	GCC		0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		10	109	0	0	0	1	0	10	109					T	75022287	C	T	75022287	3	4	293	1	0	0	0	0	1	0	0	0	9074	768	27	1	4657	1	LTBP2	14	75022287	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	7081746	75022287	32327253	34	30474											
ESRRB	2103	broad.mit.edu	37	chr14	76905888	76905888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccacccatgtttgcaggCgccgggctgggaggcacccc	14	16	0	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:76905888C>T	ENST00000509242.1	+	3	290	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ESRRB_ENST00000261532.7_Silent_p.G64G|ESRRB_ENST00000556177.1_Silent_p.G64G|ESRRB_ENST00000380887.2_Silent_p.G64G|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	64					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)		TGTTTGCAGGCGCCGGGCTGG	0.677																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(190-192)ggC>ggT		estrogen-related receptor beta							38	37	37					14																	76905888		2203	4299	6502	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905888C>T	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.192C>T	14.37:g.76905888C>T						ESRRB_ENST00000556177.1_Silent_p.G64G|ESRRB_ENST00000509242.1_Silent_p.G64G|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.G64G	p.G64G			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	264	+			64					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.192C>T	CCDS9850.2																																																																																				0.677	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			20	53	0	0	0	1	0	20	53					T	76905888	C	T	76905888	2	4	293	1	0	0	0	0	0	0	0	1	5261	755	27	1		1	ESRRB	14	76905888	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1883601	76905888	30443652	35	30475											
TCF12	6938	broad.mit.edu	37	chr15	57554314	57554315	+	Frame_Shift_Ins	INS	-	-	T													ggaactcatcgggaagactcINStgtcagtctcaatggcaatc							TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:57554314_57554315insT	ENST00000267811.5	+	16	1722_1723	c.1418_1419insT	c.(1417-1422)tctgtcfs	p.V474fs	TCF12_ENST00000452095.2_Frame_Shift_Ins_p.V494fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.V498fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.V474fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.V498fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.V328fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V238fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.V132fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.V108fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.V304fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	474					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.S497fs*12(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGGGAAGACTCTGTCAGTCTCA	0.351			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	1	Deletion - Frameshift(1)	p.S497fs*12(1)	central_nervous_system(1)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1417-1419)tgtfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57554314_57554315insT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1419dupT	15.37:g.57554315_57554315dupT	ENSP00000267811:p.Val474fs					TCF12_ENST00000343827.3_Frame_Shift_Ins_p.C303fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.C327fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.C497fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.C131fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.C473fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.C493fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.C237fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.C107fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.C497fs	p.C473fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	16	1722_1723	+		Colorectal(260;0.0907)	473					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.1418_1419insT	CCDS10159.1																																																																																				0.351	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		6	10						6	10	---	---	---	---	T	57554315	-	T	57554314	7	5	293	1	0	1	1	0	0	0	0	0	15684	913	32	0	1625	0	TCF12	15	57554314	Frame_Shift_Ins	INS	-	TCGA-HT-8011-01A-11D-2395-08		57554314	44977078	36	30476											
HS3ST6	64711	broad.mit.edu	37	chr16	1962140	1962140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggcggggggcctctcgCgtcacgaagtagctgggggt	19	10	2	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:1962140C>T	ENST00000293937.3	-	2	479	c.480G>A	c.(478-480)acG>acA	p.T160T	HS3ST6_ENST00000454677.2_Silent_p.T177T|HS3ST6_ENST00000443547.1_Silent_p.T129T			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	160					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 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGGCCTCTCGCGTCACGAAGT	0.672																																						ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(529-531)acG>acA		heparan sulfate (glucosamine) 3-O-sulfotransferase 6							15	18	17					16																	1962140		2193	4295	6488	SO:0001819	synonymous_variant	64711							g.chr16:1962140C>T			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"Sulfotransferases, membrane-bound"	14178	protein-coding gene	gene with protein product			"heparan sulfate (glucosamine) 3-O-sulfotransferase 5"	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.480G>A	16.37:g.1962140C>T						HS3ST6_ENST00000443547.1_Silent_p.T129T|HS3ST6_ENST00000293937.3_Silent_p.T160T	p.T177T			C9JH64	C9JH64_HUMAN			2	596	-			129					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.531G>A																																																																																					0.672	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		17	23	0	0	0	1	0	17	23					T	1962140	C	T	1962140	2	4	293	1	0	0	0	0	0	0	0	1	7369	755	27	1		1	HS3ST6	16	1962140	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		1962140	88392613	37	30477											
CREBBP	1387	broad.mit.edu	37	chr16	3828795	3828795	+	Frame_Shift_Del	DEL	G	G	-													cctttagagctgcgggatcaGgtgttgggaagatggcttgg							TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:3828795delG	ENST00000262367.5	-	9	2656	c.1847delC	c.(1846-1848)cctfs	p.P616fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P578fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	616	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				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.P616R(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)		TGCGGGATCAGGTGTTGGGAA	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		1	Substitution - Missense(1)	p.P616R(1)	lung(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						c.(1846-1848)ctfs		CREB binding protein							170	155	160					16																	3828795		2197	4300	6497	SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828795delG	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.1847delC	16.37:g.3828795delG	ENSP00000262367:p.Pro616fs					CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P578fs	p.P616fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	9	2656	-		Ovarian(90;0.0266)	616			KIX.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	c.1847delC	CCDS10509.1																																																																																				0.468	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		46	87						46	87	---	---	---	---	-	3828795	G	-	3828795	7	5	293	1	0	1	0	1	0	0	0	0	3861	1000	35	0	5573	0	CREBBP	16	3828795	Frame_Shift_Del	DEL	G	TCGA-HT-8011-01A-11D-2395-08	1866655	3828795	86525958	38	30478											
NFAT5	10725	broad.mit.edu	37	chr16	69689703	69689703	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacaacatgacactggcGtaagtacttagtaagaattt	8	7	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:69689703G>A	ENST00000354436.2	+	5	1460		c.e5+1		NFAT5_ENST00000393742.2_Splice_Site|NFAT5_ENST00000567239.1_Splice_Site|NFAT5_ENST00000349945.1_Splice_Site|NFAT5_ENST00000566899.1_Splice_Site|NFAT5_ENST00000432919.1_Splice_Site	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive						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						TGACACTGGCGTAAGTACTTA	0.353																																						ENST00000349945.1																			0				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						c.e7+1		nuclear factor of activated T-cells 5, tonicity-responsive							83	79	80					16																	69689703		2198	4300	6498	SO:0001630	splice_region_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69689703G>A	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.1142+1G>A	16.37:g.69689703G>A						NFAT5_ENST00000567239.1_Splice_Site|NFAT5_ENST00000432919.1_Splice_Site|NFAT5_ENST00000393742.2_Splice_Site|NFAT5_ENST00000354436.2_Splice_Site|NFAT5_ENST00000566899.1_Splice_Site		NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			7	2466	+								A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Splice_Site	SNP	ENST00000354436.2	37		CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765524	0.90020	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5696	0.95406	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFAT5	68247204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.763000	0.98947	2.638000	0.89438	0.467000	0.42956	.		0.353	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714	Intron	15	27	0	0	0	1	0	15	27					A	69689703	G	A	69689703	5	1	293	1	0	0	0	0	0	0	1	0	10360	1159	40	1	1219	1	NFAT5	16	69689703	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	65860908	69689703	20665050	39	30479											
TMEM99	147184	broad.mit.edu	37	chr17	38991040	38991040	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttgcggtcatcggtTgagagaaggacttcttcttc	12	8	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:38991040T>A	ENST00000301665.3	+	3	576	c.272T>A	c.(271-273)tTg>tAg	p.L91*		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	91						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTCATCGGTTGAGAGAAGGA	0.458																																						ENST00000301665.3																			0				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10						c.(271-273)tTg>tAg		transmembrane protein 99							215	213	214					17																	38991040		1933	4144	6077	SO:0001587	stop_gained	147184					integral to membrane		g.chr17:38991040T>A	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.272T>A	17.37:g.38991040T>A	ENSP00000301665:p.Leu91*						p.L91*	NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN			3	576	+		Breast(137;0.000301)	91					B4DQ34|Q96BP9	Nonsense_Mutation	SNP	ENST00000301665.3	37	c.272T>A	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574069	0.28092	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	91	.	ENSP00000301665:L91X	L	+	2	0	TMEM99	36244566	0.014000	0.17966	0.028000	0.17463	0.029000	0.11900	0.286000	0.18902	0.263000	0.21812	0.260000	0.18958	TTG		0.458	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274		79	90	0	0	0	1	0	79	90					A	38991040	T	A	38991040	4	1	293	1	0	0	0	0	0	1	0	0	16223	1821	63	5	274	5	TMEM99	17	38991040	Nonsense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08		38991040	42204170	40	30480											
ACE	1636	broad.mit.edu	37	chr17	61557154	61557154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaacatcctggcttcctCgcgaagctacgccatgctcc	7	18	0	0	rs374910265		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:61557154C>T	ENST00000290866.4	+	4	560	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ACE_ENST00000428043.1_Missense_Mutation_p.S179L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S179L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	179	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)			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)	CTGGCTTCCTCGCGAAGCTAC	0.602																																						ENST00000290866.4																			0				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						c.(535-537)tCg>tTg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	C	LEU/SER	0,4406		0,0,2203	122	87	99		536	3.9	0.1	17		99	1,8599	2.2+/-6.3	0,1,4299	no	missense	ACE	NM_000789.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	179/1307	61557154	1,13005	2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61557154C>T	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.536C>T	17.37:g.61557154C>T	ENSP00000290866:p.Ser179Leu					ACE_ENST00000428043.1_Missense_Mutation_p.S179L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.S179L	p.S179L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			4	560	+			179			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.536C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997283	0.93167	0.0	1.16E-4	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.47869	0.83;0.83;0.83	3.88	3.88	0.44766	.	0.088369	0.53938	N	0.000043	T	0.78654	0.4317	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	D	0.87222	0.2254	10	0.87932	D	0	-2.0513	16.0326	0.80588	0.0:1.0:0.0:0.0	.	179;179	F5H1K1;P12821	.;ACE_HUMAN	L	179	ENSP00000439591:S179L;ENSP00000290866:S179L;ENSP00000397593:S179L	ENSP00000290866:S179L	S	+	2	0	ACE	58910886	1.000000	0.71417	0.121000	0.21740	0.843000	0.47879	7.609000	0.82925	2.000000	0.58554	0.561000	0.74099	TCG		0.602	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			34	53	0	0	0	1	0	34	53					T	61557154	C	T	61557154	3	4	293	1	0	0	0	0	1	0	0	0	136	893	31	1	550	1	ACE	17	61557154	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	22566114	61557154	19638056	41	30481											
DSG3	1830	broad.mit.edu	37	chr18	29038477	29038477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgggaatcgatcagccgCcttttggaatctttgttgtt	12	7	2	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:29038477C>A	ENST00000257189.4	+	4	369	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	96	Cadherin 1. {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)			CGATCAGCCGCCTTTTGGAAT	0.443																																						ENST00000257189.4																			0				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						c.(286-288)Cct>Act		desmoglein 3							97	95	96					18																	29038477		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29038477C>A	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.286C>A	18.37:g.29038477C>A	ENSP00000257189:p.Pro96Thr						p.P96T	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	369	+			96			Cadherin 1.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.286C>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574521	0.86542	.	.	ENSG00000134757	ENST00000257189	T	0.61980	0.06	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000164	D	0.85013	0.5600	M	0.93106	3.38	0.52099	D	0.999946	D	0.89917	1.0	D	0.97110	1.0	D	0.87527	0.2450	10	0.87932	D	0	.	19.9381	0.97149	0.0:1.0:0.0:0.0	.	96	P32926	DSG3_HUMAN	T	96	ENSP00000257189:P96T	ENSP00000257189:P96T	P	+	1	0	DSG3	27292475	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	5.915000	0.69973	2.880000	0.98712	0.650000	0.86243	CCT		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		17	33	1	0	3.52763e-06	1	3.83438e-06	17	33					A	29038477	C	A	29038477	3	1	293	1	0	0	0	0	1	0	0	0	4778	739	26	4	300	4	DSG3	18	29038477	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		29038477	49038771	42	30482											
TCEB3C	162699	broad.mit.edu	37	chr18	44555313	44555313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggagcgctggcgcggAgagtgcttctgggtttgcct	16	11	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:44555313A>G	ENST00000330682.2	-	1	1136	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	301				S -> C (in Ref. 1; BAC01113). {ECO:0000305}.	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)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCTGGCGCGGAGAGTGCTTCT	0.632																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(901-903)Tcc>Ccc		transcription elongation factor B polypeptide 3C (elongin A3)							319	322	321					18																	44555313		1884	3673	5557	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555313A>G	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.901T>C	18.37:g.44555313A>G	ENSP00000328232:p.Ser301Pro					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.S301P	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1136	-			301	S -> C (in Ref. 1; BAC01113).					Missense_Mutation	SNP	ENST00000330682.2	37	c.901T>C	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	a	7.250	0.603136	0.13939	.	.	ENSG00000183791	ENST00000330682	T	0.13657	2.57	1.1	-0.232	0.13082	.	0.456124	0.18651	N	0.135006	T	0.08044	0.0201	L	0.52573	1.65	0.09310	N	1	P	0.38565	0.637	B	0.23852	0.049	T	0.23583	-1.0184	10	0.59425	D	0.04	-2.8963	3.3382	0.07108	0.6407:0.0:0.0:0.3593	.	301	Q8NG57	ELOA3_HUMAN	P	301	ENSP00000328232:S301P	ENSP00000328232:S301P	S	-	1	0	TCEB3C	42809311	0.806000	0.28996	0.000000	0.03702	0.002000	0.02628	0.499000	0.22546	-0.069000	0.12931	-1.108000	0.02087	TCC		0.632	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		59	1863	0	0	0	1	0	59	1863					G	44555313	A	G	44555313	3	3	293	1	0	0	0	0	1	0	0	0	15680	304	11	3	2386	3	TCEB3C	18	44555313	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	15516836	44555313	33521935	43	30483											
ZNF560	147741	broad.mit.edu	37	chr19	9578276	9578276	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccattatgaactctcaaatgTccaaaaagagatgggtaaga	8	7	1	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:9578276T>A	ENST00000301480.4	-	10	1560	c.1347A>T	c.(1345-1347)ggA>ggT	p.G449G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	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)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTCAAATGTCCAAAAAGAG	0.398																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1345-1347)ggA>ggT		zinc finger protein 560							134	147	143					19																	9578276		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578276T>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1347A>T	19.37:g.9578276T>A							p.G449G	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1560	-			449					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1347A>T	CCDS12214.1																																																																																				0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		41	48	0	0	0	1	0	41	48					A	9578276	T	A	9578276	2	1	293	1	0	0	0	0	0	0	0	1	17988	1654	58	5		5	ZNF560	19	9578276	Silent	SNP	T	TCGA-HT-8011-01A-11D-2395-08		9578276	49550707	44	30484											
CRTC1	23373	broad.mit.edu	37	chr19	18888133	18888133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgcacatgctcaacgacCccgacatggttctggccgac	10	15	2	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:18888133C>A	ENST00000321949.8	+	14	1872	c.1846C>A	c.(1846-1848)Ccc>Acc	p.P616T	CRTC1_ENST00000338797.6_Missense_Mutation_p.P632T|CRTC1_ENST00000594658.1_Missense_Mutation_p.P575T|CRTC1_ENST00000601916.1_Missense_Mutation_p.P374T	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						GCTCAACGACCCCGACATGGT	0.682																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1894-1896)Ccc>Acc		CREB regulated transcription coactivator 1							195	205	202					19																	18888133		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888133C>A	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		ENST00000321949.8:c.1846C>A	19.37:g.18888133C>A	ENSP00000323332:p.Pro616Thr					CRTC1_ENST00000321949.8_Missense_Mutation_p.P616T|CRTC1_ENST00000601916.1_Missense_Mutation_p.P374T|CRTC1_ENST00000594658.1_Missense_Mutation_p.P575T	p.P632T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1919	+			616						Missense_Mutation	SNP	ENST00000321949.8	37	c.1894C>A	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465094	0.84425	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.20463	2.07;2.11	3.67	3.67	0.42095	Transducer of regulated CREB activity, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.17137	-1.0379	9	.	.	.	-14.2344	14.5495	0.68057	0.0:1.0:0.0:0.0	.	632;616	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	T	632;616	ENSP00000345001:P632T;ENSP00000323332:P616T	.	P	+	1	0	CRTC1	18749133	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	7.323000	0.79105	1.898000	0.54952	0.467000	0.42956	CCC		0.682	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		168	288	1	0	5.35467e-60	1	6.3746e-60	168	288					A	18888133	C	A	18888133	3	1	293	1	0	0	0	0	1	0	0	0	3899	623	22	4	1952	4	CRTC1	19	18888133	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	9309857	18888133	40240850	45	30485											
ZNF681	148213	broad.mit.edu	37	chr19	23926730	23926730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaatggttaaaggctTtgccacattcttcacatgtg	11	7	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:23926730T>A	ENST00000402377.3	-	4	1763	c.1622A>T	c.(1621-1623)aAa>aTa	p.K541I	ZNF681_ENST00000395385.3_Missense_Mutation_p.K472I	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	541					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(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTAAAGGCTTTGCCACATTC	0.393																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1621-1623)aAa>aTa		zinc finger protein 681							47	50	49					19																	23926730		2202	4298	6500	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926730T>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1622A>T	19.37:g.23926730T>A	ENSP00000384000:p.Lys541Ile					ZNF681_ENST00000395385.3_Missense_Mutation_p.K472I	p.K541I	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1763	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	541					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1622A>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	10.71	1.426590	0.25726	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.28255	1.62;1.62	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57169	0.2035	M	0.89968	3.075	0.29426	N	0.860199	D	0.76494	0.999	D	0.85130	0.997	T	0.51647	-0.8679	9	0.87932	D	0	.	6.6698	0.23062	0.0:0.0:0.0:1.0	.	541	Q96N22	ZN681_HUMAN	I	541;472	ENSP00000384000:K541I;ENSP00000378783:K472I	ENSP00000378783:K472I	K	-	2	0	ZNF681	23718570	0.999000	0.42202	0.723000	0.30687	0.098000	0.18820	3.791000	0.55469	0.663000	0.31027	0.260000	0.18958	AAA		0.393	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		13	13	0	0	0	1	0	13	13					A	23926730	T	A	23926730	3	1	293	1	0	0	0	0	1	0	0	0	18085	1841	64	5	319	5	ZNF681	19	23926730	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	5038597	23926730	35202253	46	30486											
PSG8	440533	broad.mit.edu	37	chr19	43258728	43258728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggtaaattctggggaGgtctggaccatctggagcaa	15	6	3	1	rs138526624	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:43258728G>T	ENST00000306511.4	-	5	1097	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG8_ENST00000406636.3_Missense_Mutation_p.L212I|PSG8_ENST00000404209.4_Missense_Mutation_p.L334I|PSG8_ENST00000401467.2_Missense_Mutation_p.L241I|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	334						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)				ATTCTGGGGAGGTCTGGACCA	0.502																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1000-1002)Ctc>Atc		pregnancy specific beta-1-glycoprotein 8							39	47	44					19																	43258728		2163	4244	6407	SO:0001583	missense	0					extracellular region		g.chr19:43258728G>T	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.1000C>A	19.37:g.43258728G>T	ENSP00000305005:p.Leu334Ile					PSG8_ENST00000401467.2_Missense_Mutation_p.L241I|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.L334I|PSG8_ENST00000406636.3_Missense_Mutation_p.L212I	p.L334I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			5	1096	-		Prostate(69;0.00899)	334					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1000C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.021	-1.431750	0.01108	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	1.38	-2.76	0.05896	.	.	.	.	.	T	0.50616	0.1626	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.33583	0.389;0.137;0.379;0.418;0.032;0.04	B;B;B;B;B;B	0.40329	0.198;0.115;0.326;0.145;0.03;0.05	T	0.40887	-0.9539	9	0.33940	T	0.23	.	0.0992	0.00046	0.2365:0.1888:0.2255:0.3492	.	212;241;334;241;334;334	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	I	334;116;212;241;146;241;334	ENSP00000385869:L334I;ENSP00000385081:L212I;ENSP00000386090:L241I;ENSP00000305005:L334I	ENSP00000292109:L116I	L	-	1	0	PSG8	47950568	0.000000	0.05858	0.003000	0.11579	0.038000	0.13279	-2.965000	0.00670	-2.216000	0.00732	-0.856000	0.03024	CTC		0.502	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			5	82	1	0	1.23904e-05	1	1.32754e-05	5	82					T	43258728	G	T	43258728	3	4	293	1	0	0	0	0	1	0	0	0	12661	1000	35	4	305	4	PSG8	19	43258728	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	19331998	43258728	15870255	47	30487											
GPR32	2854	broad.mit.edu	37	chr19	51274118	51274118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccacctggcccttgcCgatttcatgctctcactgtc	6	16	3	0	rs375835721		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:51274118C>T	ENST00000270590.4	+	1	398	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	87					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCCTTGCCGATTTCATGC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20379	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(259-261)gcC>gcT		G protein-coupled receptor 32		C		2,4404	4.2+/-10.8	0,2,2201	166	130	143		261	0.1	0	19		143	0,8600		0,0,4300	no	coding-synonymous	GPR32	NM_001506.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		87/357	51274118	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274118C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.261C>T	19.37:g.51274118C>T							p.A87A	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	398	+		all_neural(266;0.131)	87					Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.261C>T	CCDS12801.1																																																																																				0.562	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			26	46	0	0	0	1	0	26	46					T	51274118	C	T	51274118	2	4	293	1	0	0	0	0	0	0	0	1	6688	639	23	1		1	GPR32	19	51274118	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	8015390	51274118	7854865	48	30488											
LILRB2	10288	broad.mit.edu	37	chr19	54778558	54778558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggatggccagggtggcGtagatgctgggctcagctgg	19	7	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54778558G>A	ENST00000391749.4	-	14	2047	c.1776C>T	c.(1774-1776)taC>taT	p.Y592Y	LILRB2_ENST00000434421.1_Silent_p.Y476Y|LILRB2_ENST00000391748.1_Silent_p.Y591Y|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Silent_p.Y591Y	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	592					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGGCGTAGATGCTGG	0.617																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1771-1773)taC>taT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							117	101	106					19																	54778558		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778558G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1776C>T	19.37:g.54778558G>A						LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Silent_p.Y476Y|LILRB2_ENST00000391749.4_Silent_p.Y592Y|LILRB2_ENST00000314446.5_Silent_p.Y591Y	p.Y591Y	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1900	-	Ovarian(34;0.19)		592					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1773C>T	CCDS12886.1																																																																																				0.617	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			36	67	0	0	0	1	0	36	67					A	54778558	G	A	54778558	2	1	293	1	0	0	0	0	0	0	0	1	8791	1140	40	1		1	LILRB2	19	54778558	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	3504440	54778558	4350425	49	30489											
LILRB2	10288	broad.mit.edu	37	chr19	54780127	54780127	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcactcacagaggttttCttcctgggcgtcggcagctg	11	13	3	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54780127C>A	ENST00000391749.4	-	12	1859	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E414*|LILRB2_ENST00000391748.1_Nonsense_Mutation_p.E529*|LILRB2_ENST00000391746.1_Missense_Mutation_p.K504N|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E529*	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	530					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGTTTTCTTCCTGGGCG	0.627																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1585-1587)Gaa>Taa		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							70	84	79					19																	54780127		2203	4300	6503	SO:0001587	stop_gained	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780127C>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1588G>T	19.37:g.54780127C>A	ENSP00000375629:p.Glu530*					LILRB2_ENST00000391746.1_Missense_Mutation_p.K504N|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E414*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.E530*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E529*	p.E529*	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	12	1712	-	Ovarian(34;0.19)		530					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Nonsense_Mutation	SNP	ENST00000391749.4	37	c.1585G>T	CCDS12886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.816105|5.816105	0.96982|0.96982	.|.	.|.	ENSG00000131042|ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421|ENST00000391746	.|T	.|0.00502	.|6.95	1.82|1.82	-0.771|-0.771	0.11002|0.11002	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00356	.|0.0011	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.16802	.|0.019	.|B	.|0.04013	.|0.001	.|T	.|0.18461	.|-1.0336	.|7	0.87932|0.51188	D|T	0|0.08	.|.	7.4805|7.4805	0.27402|0.27402	0.0:0.4723:0.5277:0.0|0.0:0.4723:0.5277:0.0	.|.	.|504	.|A8MU67	.|.	X|N	529;529;530;414|504	.|ENSP00000375626:K504N	ENSP00000319960:E529X|ENSP00000375626:K504N	E|K	-|-	1|3	0|2	LILRB2|LILRB2	59471939|59471939	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	0.630000|0.630000	0.24553|0.24553	-0.049000|-0.049000	0.13379|0.13379	0.297000|0.297000	0.19635|0.19635	GAA|AAG		0.627	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			17	111	1	0	6.49762e-13	1	7.38366e-13	17	111					A	54780127	C	A	54780127	4	1	293	1	0	0	0	0	0	1	0	0	8791	922	32	4	220	4	LILRB2	19	54780127	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1569	54780127	4348856	50	30490											
WISP2	8839	broad.mit.edu	37	chr20	43344046	43344046	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggacatgagaggcacaccGaagacccacctcctggcctt	12	14	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:43344046G>A	ENST00000372868.2	+	2	358	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.P5P|WISP2_ENST00000372865.4_Silent_p.P5P|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	5					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGGCACACCGAAGACCCACC	0.612																																						ENST00000372868.2																			0				skin(1)	1						c.(13-15)ccG>ccA		WNT1 inducible signaling pathway protein 2							57	49	52					20																	43344046		2202	4300	6502	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43344046G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.15G>A	20.37:g.43344046G>A						WISP2_ENST00000190983.4_Silent_p.P5P|WISP2_ENST00000372865.4_Silent_p.P5P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA	p.P5P			O76076	WISP2_HUMAN			2	358	+		Myeloproliferative disorder(115;0.0122)	5					B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	c.15G>A	CCDS13336.1																																																																																				0.612	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		5	7	0	0	0	1	0	5	7					A	43344046	G	A	43344046	2	1	293	1	0	0	0	0	0	0	0	1	17370	1045	37	1		1	WISP2	20	43344046	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08		43344046	19681474	51	30491											
GNAS	2778	broad.mit.edu	37	chr20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaacgagcccatccccGtcgagaatgatggcgaggcc	11	15	1	2	rs587778390		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000306120.3_5'Flank|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					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)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				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						c.(181-183)Gtc>Atc		GNAS complex locus							21	24	23					20																	57428501		1883	4116	5999	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428501G>A	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	ENST00000371100.4:c.181G>A	20.37:g.57428501G>A	ENSP00000360141:p.Val61Ile	TSP Lung(22;0.16)				GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron	p.V61I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	733	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.181G>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.343714	0.00222	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88431	-2.38;-2.38	4.42	-8.85	0.00799	.	.	.	.	.	T	0.70500	0.3231	N	0.03115	-0.41	0.42993	D	0.994497	B	0.02656	0.0	B	0.01281	0.0	T	0.51857	-0.8652	9	0.33940	T	0.23	.	12.2115	0.54381	0.2247:0.2022:0.5731:0.0	.	61	Q5JWF2	GNAS1_HUMAN	I	61	ENSP00000360141:V61I;ENSP00000360143:V61I	ENSP00000360140:V61I	V	+	1	0	GNAS	56861896	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-3.235000	0.00546	-3.510000	0.00150	-2.264000	0.00278	GTC		0.642	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		10	14	0	0	0	1	0	10	14					A	57428501	G	A	57428501	3	1	293	1	0	0	0	0	1	0	0	0	6510	1145	40	1	925	1	GNAS	20	57428501	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	14084455	57428501	5597019	52	30492											
TEF	7008	broad.mit.edu	37	chr22	41791868	41791868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcctggagaaggagaaCacagccctgcggacggaggt	15	11	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:41791868C>T	ENST00000266304.4	+	4	932	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEF_ENST00000406644.3_Silent_p.N242N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	272	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGAAGGAGAACACAGCCCTGC	0.587																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(814-816)aaC>aaT		thyrotrophic embryonic factor							123	106	112					22																	41791868		2203	4300	6503	SO:0001819	synonymous_variant	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41791868C>T		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"basic leucine zipper proteins"	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.816C>T	22.37:g.41791868C>T						TEF_ENST00000406644.3_Silent_p.N242N	p.N272N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			4	932	+			272			Leucine-zipper.		B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	37	c.816C>T	CCDS14014.1																																																																																				0.587	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		56	80	0	0	0	1	0	56	80					T	41791868	C	T	41791868	2	4	293	1	0	0	0	0	0	0	0	1	15747	477	17	2		2	TEF	22	41791868	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		41791868	9512698	53	30493											
MAGEB16	139604	broad.mit.edu	37	chrX	35821247	35821247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccatctcagtatgcggaaGctctgaaagaggaagaagag	12	8	2	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:35821247G>T	ENST00000399989.1	+	2	1213	c.934G>T	c.(934-936)Gct>Tct	p.A312S	MAGEB16_ENST00000399992.1_Missense_Mutation_p.A344S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399987.1_Missense_Mutation_p.A312S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	312	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTATGCGGAAGCTCTGAAAGA	0.488																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(934-936)Gct>Tct		melanoma antigen family B, 16							19	20	19					X																	35821247		2168	4283	6451	SO:0001583	missense	139604							g.chrX:35821247G>T		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.934G>T	X.37:g.35821247G>T	ENSP00000382871:p.Ala312Ser					MAGEB16_ENST00000399987.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A344S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A312S	p.A312S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	1213	+			312			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.934G>T	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873013	0.33069	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.03889	3.87;3.77;3.87;3.87;3.87	3.13	3.13	0.36017	.	0.055325	0.64402	D	0.000001	T	0.24470	0.0593	M	0.92833	3.35	0.09310	N	1	D	0.59357	0.985	D	0.76071	0.987	T	0.03296	-1.1051	10	0.62326	D	0.03	.	9.0295	0.36249	0.0:0.0:1.0:0.0	.	312	A2A368	MAGBG_HUMAN	S	312;344;312;312;312	ENSP00000382870:A312S;ENSP00000382874:A344S;ENSP00000382869:A312S;ENSP00000382871:A312S;ENSP00000382867:A312S	ENSP00000382867:A312S	A	+	1	0	MAGEB16	35731168	0.855000	0.29742	0.019000	0.16419	0.103000	0.19146	2.163000	0.42377	1.864000	0.54056	0.521000	0.50471	GCT		0.488	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			5	1	1	0	0.184627	1	0.184627	5	1					T	35821247	G	T	35821247	3	4	293	1	0	0	0	0	1	0	0	0	9174	971	34	4	936	4	MAGEB16	23	35821247	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35821247	119449313	54	30494											
STAG2	10735	broad.mit.edu	37	chrX	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcacaagtcagagcatttCgacatacaagcaccctggca	7	13	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:123179197C>T	ENST00000371160.1	+	8	936	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					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						CAGAGCATTTCGACATACAAG	0.343																																						ENST00000371160.1																			0				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						c.(646-648)Cga>Tga		stromal antigen 2							133	126	129					X																	123179197		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179197C>T	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.646C>T	X.37:g.123179197C>T	ENSP00000360202:p.Arg216*					STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*	p.R216*			Q8N3U4	STAG2_HUMAN			8	936	+			216					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.646C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	37	6.052955	0.97241	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	4.95	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.371	14.3204	0.66482	0.1482:0.8518:0.0:0.0	.	.	.	.	X	216;216;147;216;216;216;216	.	ENSP00000218089:R216X	R	+	1	2	STAG2	123006878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.163000	0.50763	2.167000	0.68274	0.422000	0.28245	CGA		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		44	13	0	0	0	1	0	44	13					T	123179197	C	T	123179197	4	4	293	1	0	0	0	0	0	1	0	0	15242	876	31	1	668	1	STAG2	23	123179197	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	87357950	123179197	32091363	55	30495											
CCDC27	148870	broad.mit.edu	37	chr1	3677958	3677958	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaatgccttctgaaaggCaaaggccaagagacatccat	9	10	1	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:3677958C>G	ENST00000294600.2	+	5	909	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	275										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCTGAAAGGCAAAGGCCAAG	0.567																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(823-825)ggC>ggG		coiled-coil domain containing 27							73	71	72					1																	3677958		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3677958C>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.825C>G	1.37:g.3677958C>G							p.G275G	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	5	909	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	275					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.825C>G	CCDS50.1																																																																																				0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		4	53	0	0	0	1	0	4	53					G	3677958	C	G	3677958	2	3	294	1	0	0	0	0	0	0	0	1	2801	697	25	4		4	CCDC27	1	3677958	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		3677958	245572663	1	30496											
OMA1	115209	broad.mit.edu	37	chr1	58999969	58999969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtatcgggcatctttcTcagttagcatatcattttta	7	9	3	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:58999969T>C	ENST00000371226.3	-	4	877	c.764A>G	c.(763-765)gAg>gGg	p.E255G	OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.E255G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	255					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)					GGCATCTTTCTCAGTTAGCAT	0.338																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(763-765)gAg>gGg		OMA1 zinc metallopeptidase							62	61	61					1																	58999969		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58999969T>C	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.764A>G	1.37:g.58999969T>C	ENSP00000360270:p.Glu255Gly					OMA1_ENST00000358603.2_Missense_Mutation_p.E255G|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR	p.E255G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			4	877	-	all_cancers(7;6.54e-05)		255					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.764A>G	CCDS608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.85|13.85	2.359519|2.359519	0.41801|0.41801	.|.	.|.	ENSG00000162600|ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242|ENST00000421528	T;T;T;T|.	0.40756|.	2.36;2.35;1.72;1.02|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.178491|.	0.48767|.	D|.	0.000174|.	T|.	0.72819|.	0.3508|.	M|M	0.70595|0.70595	2.14|2.14	0.37105|0.37105	D|D	0.900089|0.900089	P;D|.	0.54047|.	0.931;0.964|.	P;P|.	0.48166|.	0.569;0.503|.	T|.	0.77498|.	-0.2565|.	10|.	0.38643|.	T|.	0.18|.	-16.2606|-16.2606	14.9819|14.9819	0.71316|0.71316	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	255;255|.	Q96E52;Q96E52-2|.	OMA1_HUMAN;.|.	G|W	255|96	ENSP00000351417:E255G;ENSP00000360270:E255G;ENSP00000395053:E255G;ENSP00000409589:E255G|.	ENSP00000351417:E255G|.	E|X	-|-	2|3	0|0	OMA1|OMA1	58772557|58772557	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.981000|0.981000	0.71138|0.71138	2.989000|2.989000	0.49393|0.49393	2.187000|2.187000	0.69744|0.69744	0.460000|0.460000	0.39030|0.39030	GAG|TGA		0.338	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		19	3	0	0	0	1	0	19	3					C	58999969	T	C	58999969	3	2	294	1	0	0	0	0	1	0	0	0	10864	1551	54	3	834	3	OMA1	1	58999969	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08	55322011	58999969	190250652	2	30497											
HRNR	388697	broad.mit.edu	37	chr1	152187080	152187080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgagctagactcgtggtgaCcaaatccagaagactgacct	10	10	0	6			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:152187080C>A	ENST00000368801.2	-	3	7100	c.7025G>T	c.(7024-7026)gGt>gTt	p.G2342V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2342					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)			CTCGTGGTGACCAAATCCAGA	0.577																																						ENST00000368801.2																			0				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						c.(7024-7026)gGt>gTt		hornerin							375	595	520					1																	152187080		2183	4297	6480	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187080C>A	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.7025G>T	1.37:g.152187080C>A	ENSP00000357791:p.Gly2342Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2342V	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7100	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2342					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.7025G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.814	0.334537	0.11013	.	.	ENSG00000197915	ENST00000368801	T	0.06849	3.25	3.18	2.24	0.28232	.	.	.	.	.	T	0.07143	0.0181	L	0.39020	1.185	0.09310	N	0.999999	D	0.69078	0.997	P	0.61397	0.888	T	0.22417	-1.0217	9	0.59425	D	0.04	.	9.0149	0.36164	0.0:0.8816:0.0:0.1184	.	2342	Q86YZ3	HORN_HUMAN	V	2342	ENSP00000357791:G2342V	ENSP00000357791:G2342V	G	-	2	0	HRNR	150453704	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.869000	0.27996	0.880000	0.35969	0.650000	0.86243	GGT		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		12	1126	1	0	0.000673444	1	0.000729564	12	1126					A	152187080	C	A	152187080	3	1	294	1	0	0	0	0	1	0	0	0	7359	507	18	4	1531	4	HRNR	1	152187080	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	93187111	152187080	97063541	3	30498											
NTRK1	4914	broad.mit.edu	37	chr1	156841489	156841489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacaggaagaacgtgacGtgctgggcagagaacgatgt	14	8	1	3	rs201110800		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:156841489G>A	ENST00000524377.1	+	7	833	c.792G>A	c.(790-792)acG>acA	p.T264T	NTRK1_ENST00000358660.3_Silent_p.T264T|NTRK1_ENST00000368196.3_Silent_p.T264T|NTRK1_ENST00000392302.2_Silent_p.T234T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	264	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGAACGTGACGTGCTGGGCAG	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15797	0.001		0.0	False		,,,				2504	0.0					ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(790-792)acG>acA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						100	84	90					1																	156841489		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841489G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.792G>A	1.37:g.156841489G>A		TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Silent_p.T234T|NTRK1_ENST00000524377.1_Silent_p.T264T|NTRK1_ENST00000358660.3_Silent_p.T264T	p.T264T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			7	912	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		264			Ig-like C2-type 1.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.792G>A	CCDS1161.1																																																																																				0.592	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	108	0	0	0	1	0	9	108					A	156841489	G	A	156841489	2	1	294	1	0	0	0	0	0	0	0	1	10706	1132	40	1		1	NTRK1	1	156841489	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	4654409	156841489	92409132	4	30499											
IL1RL1	9173	broad.mit.edu	37	chr2	102959762	102959762	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggcttgtctagacatggTtttaagaatagctgacgtga	12	6	1	4			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:102959762T>A	ENST00000233954.1	+	8	1128	c.857T>A	c.(856-858)gTt>gAt	p.V286D	IL1RL1_ENST00000311734.2_Missense_Mutation_p.V286D|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	286	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGACATGGTTTTAAGAATA	0.453																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(856-858)gTt>gAt		interleukin 1 receptor-like 1							187	173	178					2																	102959762		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102959762T>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.857T>A	2.37:g.102959762T>A	ENSP00000233954:p.Val286Asp					IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V286D|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D	p.V286D			Q01638	ILRL1_HUMAN			8	1196	+			286			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.857T>A	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371113	0.42003	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.14516	4.02;4.02;4.02;2.5	5.19	-0.299	0.12808	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.620140	0.03210	N	0.176119	T	0.21718	0.0523	L	0.57536	1.79	0.09310	N	1	P;P;P	0.51537	0.946;0.933;0.904	P;P;B	0.53062	0.717;0.595;0.446	T	0.16129	-1.0413	10	0.54805	T	0.06	.	1.0359	0.01548	0.3267:0.0925:0.1693:0.4114	.	169;286;286	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	D	286;169;286;272	ENSP00000233954:V286D;ENSP00000384822:V169D;ENSP00000310371:V286D;ENSP00000386618:V272D	ENSP00000233954:V286D	V	+	2	0	IL1RL1	102326194	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.302000	0.08221	0.371000	0.24564	0.477000	0.44152	GTT		0.453	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		45	130	0	0	0	1	0	45	130					A	102959762	T	A	102959762	3	1	294	1	0	0	0	0	1	0	0	0	7663	1725	60	5	883	5	IL1RL1	2	102959762	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		102959762	140239611	5	30500											
RANBP2	5903	broad.mit.edu	37	chr2	109365585	109365585	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgactagatacgatgttGgtaagttatatgtttcagag	10	3	1	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:109365585G>T	ENST00000283195.6	+	9	1399	c.1273G>T	c.(1273-1275)Ggt>Tgt	p.G425C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	425					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)	p.G425C(2)	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						ATACGATGTTGGTAAGTTATA	0.343																																						ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - Missense(2)	p.G425C(2)	lung(2)	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						c.e9+1		RAN binding protein 2							134	142	139					2																	109365585		2203	4300	6503	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365585G>T	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.1273+1G>T	2.37:g.109365585G>T							p.G425_splice	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1399	+			425					Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.1273_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760250	0.69763	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.84516	-1.86	5.4	5.4	0.78164	.	.	.	.	.	D	0.91683	0.7371	M	0.62723	1.935	0.47214	D	0.999351	D	0.89917	1.0	D	0.97110	1.0	D	0.91956	0.5575	9	0.72032	D	0.01	-26.4724	19.5298	0.95223	0.0:0.0:1.0:0.0	.	425	P49792	RBP2_HUMAN	C	425	ENSP00000283195:G425C	ENSP00000283195:G425C	G	+	1	0	RANBP2	108732017	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.505000	0.81655	2.678000	0.91216	0.557000	0.71058	GGT		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	4	191	1	0	0.014758	1	0.0150474	4	191					T	109365585	G	T	109365585	5	4	294	1	0	0	0	0	0	0	1	0	13028	1362	47	4	1307	4	RANBP2	2	109365585	Splice_Site	SNP	G	TCGA-HT-8012-01A-11D-2395-08	6405823	109365585	133833788	6	30501											
TFCP2L1	29842	broad.mit.edu	37	chr2	122005806	122005806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcattcagctgggtcggGctggccctggggtccaagat	15	11	1	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:122005806G>A	ENST00000263707.5	-	5	535	c.438C>T	c.(436-438)agC>agT	p.S146S		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	146					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)					GCTGGGTCGGGCTGGCCCTGG	0.527																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(436-438)agC>agT		transcription factor CP2-like 1							59	55	56					2																	122005806		2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122005806G>A	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.438C>T	2.37:g.122005806G>A							p.S146S	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			5	535	-	Renal(3;0.01)		146					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.438C>T	CCDS2134.1																																																																																				0.527	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		3	35	0	0	0	1	0	3	35					A	122005806	G	A	122005806	2	1	294	1	0	0	0	0	0	0	0	1	15793	1194	42	2		2	TFCP2L1	2	122005806	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	12640221	122005806	121193567	7	30502											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	37	0	0	0	1	0	27	37					T	209113112	C	T	209113112	3	4	294	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	87107306	209113112	34086261	8	30503											
SLC19A3	80704	broad.mit.edu	37	chr2	228560683	228560683	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgcccagatattggctgtgTaatgcatgagaaataaagaa	10	6	0	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:228560683T>A	ENST00000258403.3	-	4	1165	c.1094A>T	c.(1093-1095)tAc>tTc	p.Y365F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	365					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|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)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1093-1095)tAc>tTc		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						82	91	88					2																	228560683		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560683T>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1094A>T	2.37:g.228560683T>A	ENSP00000258403:p.Tyr365Phe					SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361F|SLC19A3_ENST00000409287.1_Intron	p.Y365F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1165	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	365						Missense_Mutation	SNP	ENST00000258403.3	37	c.1094A>T	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	2.076	-0.411908	0.04799	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.79033	-1.23;-1.23	5.03	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.104953	0.64402	D	0.000003	T	0.56891	0.2016	N	0.13272	0.32	0.19300	N	0.999975	B;B	0.12630	0.006;0.001	B;B	0.14023	0.01;0.006	T	0.32719	-0.9896	10	0.09843	T	0.71	-6.9152	10.2409	0.43312	0.2384:0.0:0.0:0.7616	.	361;365	F5H2M8;Q9BZV2	.;S19A3_HUMAN	F	365;361	ENSP00000258403:Y365F;ENSP00000445519:Y361F	ENSP00000258403:Y365F	Y	-	2	0	SLC19A3	228268927	1.000000	0.71417	0.995000	0.50966	0.682000	0.39822	3.277000	0.51654	2.111000	0.64477	0.533000	0.62120	TAC		0.443	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			4	121	0	0	0	1	0	4	121					A	228560683	T	A	228560683	3	1	294	1	0	0	0	0	1	0	0	0	14430	1638	57	5	408	5	SLC19A3	2	228560683	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08	19447571	228560683	14638690	9	30504											
CHRND	1144	broad.mit.edu	37	chr2	233393356	233393356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgactggcagaactgctccCtcaagttcaggtgtgccctt	10	13	2	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:233393356C>T	ENST00000258385.3	+	5	531	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	CHRND_ENST00000536614.1_Missense_Mutation_p.L167F|CHRND_ENST00000457943.2_Silent_p.P76P|CHRND_ENST00000543200.1_Missense_Mutation_p.L152F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	167					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|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 binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GAACTGCTCCCTCAAGTTCAG	0.592																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(499-501)Ctc>Ttc		cholinergic receptor, nicotinic, delta (muscle)							124	110	115					2																	233393356		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393356C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.499C>T	2.37:g.233393356C>T	ENSP00000258385:p.Leu167Phe					CHRND_ENST00000536614.1_Missense_Mutation_p.L167F|CHRND_ENST00000543200.1_Missense_Mutation_p.L152F|CHRND_ENST00000457943.2_Silent_p.P76P	p.L167F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	531	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	167					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.499C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252582	0.59212	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.46	4.46	0.54185	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.89206	0.6649	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.99;0.987	D;D	0.67382	0.938;0.951	D	0.89586	0.3824	10	0.87932	D	0	.	8.699	0.34314	0.0:0.8317:0.0:0.1683	.	152;167	B4DT92;Q07001	.;ACHD_HUMAN	F	152;152;167;167	ENSP00000404950:L152F;ENSP00000438380:L152F;ENSP00000258385:L167F;ENSP00000437740:L167F	ENSP00000258385:L167F	L	+	1	0	CHRND	233101600	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.190000	0.32126	2.494000	0.84150	0.561000	0.74099	CTC		0.592	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			4	110	0	0	0	1	0	4	110					T	233393356	C	T	233393356	3	4	294	1	0	0	0	0	1	0	0	0	3394	681	24	2	517	2	CHRND	2	233393356	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	4832673	233393356	9806017	10	30505											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	14	0	0	0	1	0	4	14					G	149075976	T	G	149075976	2	3	294	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-8012-01A-11D-2395-08		149075976	42078300	11	30506											
SC4MOL	6307	broad.mit.edu	37	chr4	166263064	166263064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtataatgcctataatgAaaagaggaagaagtttgaga	10	3	1	4			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:166263064A>G	ENST00000261507.6	+	6	1021	c.848A>G	c.(847-849)gAa>gGa	p.E283G	MSMO1_ENST00000393766.2_Missense_Mutation_p.E152G	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	283					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										GCCTATAATGAAAAGAGGAAG	0.343																																						ENST00000261507.6																			0											c.(847-849)gAa>gGa		methylsterol monooxygenase 1	NADH(DB00157)						67	70	69					4																	166263064		2203	4300	6503	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166263064A>G	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"Fatty acid hydroxylase domain containing"	10545	protein-coding gene	gene with protein product		607545	"sterol-C4-methyl oxidase-like"	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.848A>G	4.37:g.166263064A>G	ENSP00000261507:p.Glu283Gly					MSMO1_ENST00000393766.2_Missense_Mutation_p.E152G	p.E283G	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN			6	1021	+			283					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.848A>G	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433908	0.25813	.	.	ENSG00000052802	ENST00000261507;ENST00000393766	T;T	0.78364	-0.2;-1.17	6.06	4.89	0.63831	.	0.290828	0.39083	N	0.001467	T	0.67543	0.2904	L	0.36672	1.1	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.60419	-0.7267	10	0.26408	T	0.33	-10.2911	11.9234	0.52806	0.9328:0.0:0.0672:0.0	.	283	Q15800	MSMO1_HUMAN	G	283;152	ENSP00000261507:E283G;ENSP00000377361:E152G	ENSP00000261507:E283G	E	+	2	0	SC4MOL	166482514	1.000000	0.71417	0.992000	0.48379	0.136000	0.21042	4.915000	0.63355	1.126000	0.42016	0.533000	0.62120	GAA		0.343	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		24	27	0	0	0	1	0	24	27					G	166263064	A	G	166263064	3	3	294	1	0	0	0	0	1	0	0	0	13865	246	9	3	866	3	SC4MOL	4	166263064	Missense_Mutation	SNP	A	TCGA-HT-8012-01A-11D-2395-08	17187088	166263064	24891212	12	30507											
PARK2	5071	broad.mit.edu	37	chr6	161781238	161781238	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatcgactctgtaggcCtggggaaacaaagaggaaag	12	8	2	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr6:161781238C>T	ENST00000366898.1	-	11	1270		c.e11-1		PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|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)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGTAGGCCTGGGGAAACA	0.507																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.e11-1		parkin RBR E3 ubiquitin protein ligase							105	103	103					6																	161781238		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161781238C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1168-1G>A	6.37:g.161781238C>T						PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site		NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	11	1270	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)						A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	37		CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112294	0.37242	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9985	0.71451	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	161701228	1.000000	0.71417	0.994000	0.49952	0.142000	0.21351	5.469000	0.66749	2.245000	0.73994	0.643000	0.83706	.		0.507	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Intron	5	116	0	0	0	1	0	5	116					T	161781238	C	T	161781238	5	4	294	1	0	0	0	0	0	0	1	0	11449	695	24	2	238	2	PARK2	6	161781238	Splice_Site	SNP	C	TCGA-HT-8012-01A-11D-2395-08		161781238	9333829	13	30508											
PMPCB	9512	broad.mit.edu	37	chr7	102948108	102948109	+	Frame_Shift_Del	DEL	AA	AA	-													gtgactctttatgcacacacAaaggagaaataccagctctg					rs141254128		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:102948108_102948109delAA	ENST00000249269.4	+	7	840_841	c.802_803delAA	c.(802-804)aaafs	p.K268fs	PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs|PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	268					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCACACACAAAGGAGAAATA	0.396																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(802-804)afs		peptidase (mitochondrial processing) beta																																				SO:0001589	frameshift_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102948108_102948109delAA	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.802_803delAA	7.37:g.102948108_102948109delAA	ENSP00000249269:p.Lys268fs					PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs|PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs	p.K268fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			7	840_841	+			268					O60416|Q96FV4	Frame_Shift_Del	DEL	ENST00000249269.4	37	c.802_803delAA	CCDS5730.1																																																																																				0.396	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		10	41						10	41	---	---	---	---	-	102948109	AA	-	102948108	7	5	294	1	0	1	0	1	0	0	0	0	12141	131	5	0	828	0	PMPCB	7	102948108	Frame_Shift_Del	DEL	AA	TCGA-HT-8012-01A-11D-2395-08		102948108	56190555	14	30509											
PTK2B	2185	broad.mit.edu	37	chr8	27310644	27310644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcagtggagttcacaggGcccccacagaagcccccgag	12	14	1	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000346049.5_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				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)	AGTTCACAGGGCCCCCACAGA	0.542																																						ENST00000397501.1																			0				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						c.(2560-2562)ggG>ggA		protein tyrosine kinase 2 beta							65	67	66					8																	27310644		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27310644G>A	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.2562G>A	8.37:g.27310644G>A						PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000346049.5_Silent_p.G854G	p.G854G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	33	3370	+		Ovarian(32;2.72e-05)	854			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2562G>A	CCDS6057.1																																																																																				0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		39	58	0	0	0	1	0	39	58					A	27310644	G	A	27310644	2	1	294	1	0	0	0	0	0	0	0	1	12763	1190	42	2		2	PTK2B	8	27310644	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		27310644	119053378	15	30510											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-													gccatggggacactcgcagtAgaaggaggccacacggtcat							TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; 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)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	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						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	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.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	43						8	43	---	---	---	---	-	139413072	AGA	-	139413070	7	5	294	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-HT-8012-01A-11D-2395-08		139413070	1800361	16	30511											
DLG5	9231	broad.mit.edu	37	chr10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcagctcatggtggatcGcctcaaacctggcaagagag	12	10	3	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr10:79601943G>A	ENST00000372391.2	-	7	1138	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	DLG5_ENST00000372388.2_Missense_Mutation_p.A378V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	378					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)			ATGGTGGATCGCCTCAAACCT	0.652																																						ENST00000372391.2																			0				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						c.(1132-1134)gCg>gTg		discs, large homolog 5 (Drosophila)							72	71	72					10																	79601943		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79601943G>A	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.1133C>T	10.37:g.79601943G>A	ENSP00000361467:p.Ala378Val					DLG5_ENST00000372388.2_Missense_Mutation_p.A378V	p.A378V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		7	1138	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		378					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1133C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402638	0.83230	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04360	3.64;3.64	5.71	5.71	0.89125	.	0.208186	0.24249	N	0.040191	T	0.03390	0.0098	N	0.08118	0	0.33538	D	0.594452	B;B	0.34061	0.436;0.229	B;B	0.24269	0.033;0.052	T	0.47275	-0.9130	10	0.33940	T	0.23	.	19.8534	0.96748	0.0:0.0:1.0:0.0	.	378;378	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	V	378	ENSP00000361467:A378V;ENSP00000361464:A378V	ENSP00000361464:A378V	A	-	2	0	DLG5	79271949	1.000000	0.71417	0.960000	0.40013	0.826000	0.46750	6.292000	0.72725	2.711000	0.92665	0.563000	0.77884	GCG		0.652	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			53	60	0	0	0	1	0	53	60					A	79601943	G	A	79601943	3	1	294	1	0	0	0	0	1	0	0	0	4558	1087	38	1	4730	1	DLG5	10	79601943	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		79601943	55932804	17	30512											
MUC5B	727897	broad.mit.edu	37	chr11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccatcccggggaccAcccacaccgccacagtgctg	8	21	0	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:1264405A>C	ENST00000529681.1	+	31	6353	c.6295A>C	c.(6295-6297)Acc>Ccc	p.T2099P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2102P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	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)		CCCGGGGACCACCCACACCGC	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6304-6306)Acc>Ccc		mucin 5B, oligomeric mucus/gel-forming							19	25	23					11																	1264405		1719	3860	5579	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264405A>C	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.6295A>C	11.37:g.1264405A>C	ENSP00000436812:p.Thr2099Pro					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P	p.T2102P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6362	+		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)	2099	A -> P (in Ref. 4; CAA96577).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6304A>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	5.942	0.357883	0.11239	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19938	2.11;2.28	2.33	-0.436	0.12275	.	.	.	.	.	T	0.32526	0.0832	M	0.68317	2.08	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.16660	-1.0395	9	0.87932	D	0	.	2.7688	0.05328	0.5758:0.0:0.2337:0.1905	.	2792;2102	A7Y9J9;E9PBJ0	.;.	P	2099;2102;2100;2169	ENSP00000436812:T2099P;ENSP00000415793:T2102P	ENSP00000343037:T2100P	T	+	1	0	MUC5B	1220981	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-0.417000	0.07088	-0.258000	0.09446	0.164000	0.16699	ACC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	19	0	0	0	1	0	12	19					C	1264405	A	C	1264405	3	2	294	1	0	0	0	0	1	0	0	0	9979	159	6	5	6426	5	MUC5B	11	1264405	Missense_Mutation	SNP	A	TCGA-HT-8012-01A-11D-2395-08		1264405	133742111	18	30513											
IGF2	3481	broad.mit.edu	37	chr11	2154242	2154242	+	Frame_Shift_Del	DEL	G	G	-													tccgattgctggccatctctGggggggcgcccccgtgggcg					rs1050342		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:2154242delG	ENST00000416167.2	-	4	1684	c.518delC	c.(517-519)ccafs	p.P173fs	IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs			P01344	IGF2_HUMAN	insulin-like growth factor 2	173			P -> Q (in dbSNP:rs1050342).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|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 steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGCCATCTCTGGGGGGGCGCC	0.657																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(517-519)cafs		insulin-like growth factor 2 (somatomedin A)							57	74	68					11																	2154242		2200	4296	6496	SO:0001589	frameshift_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154242delG	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.518delC	11.37:g.2154242delG	ENSP00000414497:p.Pro173fs					IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000337883.6_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs	p.P173fs			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1684	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	173		P -> Q (in dbSNP:rs1050342).			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Frame_Shift_Del	DEL	ENST00000416167.2	37	c.518delC	CCDS7728.1																																																																																				0.657	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		7	298						7	298	---	---	---	---	-	2154242	G	-	2154242	7	5	294	1	0	1	0	1	0	0	0	0	7572	1348	47	0	28	0	IGF2	11	2154242	Frame_Shift_Del	DEL	G	TCGA-HT-8012-01A-11D-2395-08	889837	2154242	132852274	19	30514											
OR1S2	219958	broad.mit.edu	37	chr11	57970843	57970843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggggaaaaagtacaCgcctacagtggttccgtaga	15	7	0	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:57970843C>T	ENST00000302592.6	-	1	810	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAAAAGTACACGCCTACAGTG	0.498																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(811-813)Gtg>Atg		olfactory receptor, family 1, subfamily S, member 2							159	135	143					11																	57970843		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970843C>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.811G>A	11.37:g.57970843C>T	ENSP00000305469:p.Val271Met						p.V271M	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	810	-		Breast(21;0.0589)	271					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.811G>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975057	0.18736	.	.	ENSG00000197887	ENST00000302592	T	0.00051	8.81	4.75	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.189725	0.26369	N	0.024766	T	0.00241	0.0007	L	0.31578	0.945	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.57522	-0.7797	10	0.72032	D	0.01	.	9.3599	0.38190	0.1632:0.6793:0.1576:0.0	.	271	Q8NGQ3	OR1S2_HUMAN	M	271	ENSP00000305469:V271M	ENSP00000305469:V271M	V	-	1	0	OR1S2	57727419	0.000000	0.05858	0.189000	0.23252	0.078000	0.17371	0.210000	0.17455	1.331000	0.45412	0.655000	0.94253	GTG		0.498	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		4	94	0	0	0	1	0	4	94					T	57970843	C	T	57970843	3	4	294	1	0	0	0	0	1	0	0	0	10973	536	19	1	169	1	OR1S2	11	57970843	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	55816601	57970843	77035673	20	30515											
B4GALNT3	283358	broad.mit.edu	37	chr12	657235	657235	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcgaggtgctgcacaagcaGaatgaggagggcaccgacca	14	10	0	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:657235G>C	ENST00000266383.5	+	8	766	c.753G>C	c.(751-753)caG>caC	p.Q251H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	251					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCACAAGCAGAATGAGGAGG	0.622																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(751-753)caG>caC		beta-1,4-N-acetyl-galactosaminyl transferase 3							67	61	63					12																	657235		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657235G>C	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.753G>C	12.37:g.657235G>C	ENSP00000266383:p.Gln251His					B4GALNT3_ENST00000544638.1_3'UTR	p.Q251H	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		8	766	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		251					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.753G>C	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719132	0.68844	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.21932	1.98;1.98	4.97	3.09	0.35607	PA14 (2);	0.178554	0.49916	D	0.000135	T	0.46833	0.1413	M	0.85630	2.765	0.43988	D	0.99668	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.50329	-0.8841	10	0.87932	D	0	-26.8968	9.5806	0.39486	0.2297:0.0:0.7703:0.0	.	153;251	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	251;153	ENSP00000266383:Q251H;ENSP00000322953:Q153H	ENSP00000266383:Q251H	Q	+	3	2	B4GALNT3	527496	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.475000	0.45162	1.034000	0.39945	0.561000	0.74099	CAG		0.622	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		20	29	0	0	0	1	0	20	29					C	657235	G	C	657235	3	2	294	1	0	0	0	0	1	0	0	0	1268	933	33	4	783	4	B4GALNT3	12	657235	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		657235	133194660	21	30516											
B4GALNT3	283358	broad.mit.edu	37	chr12	665815	665815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggaacaaggccagcgCgtggtgcggctctcggagta	16	10	1	0	rs150429681	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:665815C>T	ENST00000266383.5	+	15	2176	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	721					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2161-2163)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 3		C		4,4402	8.1+/-20.4	0,4,2199	64	63	63		2163	0	0.9	12	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	B4GALNT3	NM_173593.3		0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461		721/999	665815	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665815C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2163C>T	12.37:g.665815C>T							p.R721R	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2176	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		721					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2163C>T	CCDS8504.1																																																																																				0.622	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		38	55	0	0	0	1	0	38	55					T	665815	C	T	665815	2	4	294	1	0	0	0	0	0	0	0	1	1268	755	27	1		1	B4GALNT3	12	665815	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	8580	665815	133186080	22	30517											
C12orf64	283310	broad.mit.edu	37	chr12	80770981	80770981	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtatgagccaaagccCtgtaagtggaaaaatgtcat	11	7	1	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:80770981C>A	ENST00000547103.1	+	57	6803	c.6797C>A	c.(6796-6798)cCt>cAt	p.P2266H	OTOGL_ENST00000458043.2_Splice_Site_p.P2278H|OTOGL_ENST00000546620.1_Splice_Site_p.P297H			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2266	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				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						AGCCAAAGCCCTGTAAGTGGA	0.353																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e57+1		otogelin-like							74	76	75					12																	80770981		2203	4299	6502	SO:0001630	splice_region_variant	283310							g.chr12:80770981C>A	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.6798+1C>A	12.37:g.80770981C>A						OTOGL_ENST00000546620.1_Splice_Site_p.P297_splice|OTOGL_ENST00000547103.1_Splice_Site_p.P2266_splice	p.P2278_splice	NM_173591.3	NP_775862.3					57	6839	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37	c.6834_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498181|2.498181	0.44455|0.44455	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620	.|T;T;T	.|0.19669	.|2.22;2.21;2.13	5.48|5.48	4.6|4.6	0.57074|0.57074	.|Cystine knot, C-terminal (2);	.|0.198864	.|0.42682	.|D	.|0.000669	T|T	0.38054|0.38054	0.1026|0.1026	M|M	0.69823|0.69823	2.125|2.125	0.27696|0.27696	N|N	0.945941|0.945941	.|P	.|0.48764	.|0.915	.|P	.|0.53062	.|0.717	T|T	0.29366|0.29366	-1.0014|-1.0014	5|10	.|0.56958	.|D	.|0.05	.|.	14.876|14.876	0.70493|0.70493	0.0:0.9306:0.0:0.0694|0.0:0.9306:0.0:0.0694	.|.	.|643	.|Q3ZCN5	.|OTOGL_HUMAN	I|H	686|2266;2278;297	.|ENSP00000447211:P2266H;ENSP00000400895:P2278H;ENSP00000449094:P297H	.|ENSP00000400895:P2278H	L|P	+|+	1|2	2|0	OTOGL|OTOGL	79295112|79295112	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.026000|0.026000	0.11368|0.11368	4.078000|4.078000	0.57606|0.57606	1.461000|1.461000	0.47929|0.47929	-0.194000|-0.194000	0.12790|0.12790	CTA|CCT		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Missense_Mutation	3	38	1	0	1	1	1	3	38					A	80770981	C	A	80770981	5	1	294	1	0	0	0	0	0	0	1	0	1707	695	24	4	7059	4	C12orf64	12	80770981	Splice_Site	SNP	C	TCGA-HT-8012-01A-11D-2395-08	80105166	80770981	53080914	23	30518											
RNF17	56163	broad.mit.edu	37	chr13	25399896	25399896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagatggaatttggtaccGagcaaaagttatcggtagga	13	4	0	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:25399896G>A	ENST00000255324.5	+	16	2283	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	744	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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)		ATTTGGTACCGAGCAAAAGTT	0.378																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2230-2232)cGa>cAa		ring finger protein 17							102	98	99					13																	25399896		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399896G>A	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.2231G>A	13.37:g.25399896G>A	ENSP00000255324:p.Arg744Gln					RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q	p.R744Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2283	+		Lung SC(185;0.0225)|Breast(139;0.077)	744			Tudor 1.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2231G>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037652	0.75617	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	D;D;D	0.84298	-1.83;-1.83;-1.83	4.69	4.69	0.59074	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.311562	0.28560	N	0.014901	D	0.94411	0.8202	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.98;0.995	D	0.95866	0.8887	10	0.87932	D	0	.	14.9002	0.70672	0.0:0.0:1.0:0.0	.	744;744	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	Q	744;744;603;68	ENSP00000255324:R744Q;ENSP00000371346:R744Q;ENSP00000388892:R68Q	ENSP00000255324:R744Q	R	+	2	0	RNF17	24297896	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.098000	0.57748	2.312000	0.78011	0.491000	0.48974	CGA		0.378	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		17	81	0	0	0	1	0	17	81					A	25399896	G	A	25399896	3	1	294	1	0	0	0	0	1	0	0	0	13461	1058	37	1	2293	1	RNF17	13	25399896	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		25399896	89769982	24	30519											
BEGAIN	57596	broad.mit.edu	37	chr14	101005290	101005290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcctcctcggcCgcgctgtcagtggagttctg	11	17	2	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:101005290C>T	ENST00000355173.2	-	7	869	c.798G>A	c.(796-798)gcG>gcA	p.A266A	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Silent_p.A202A|BEGAIN_ENST00000443071.2_Silent_p.A266A	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	266						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTCCTCGGCCGCGCTGTCAG	0.726																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(604-606)gcG>gcA		brain-enriched guanylate kinase-associated							11	15	14					14																	101005290		2187	4286	6473	SO:0001819	synonymous_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101005290C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.798G>A	14.37:g.101005290C>T						BEGAIN_ENST00000443071.2_Silent_p.A266A|BEGAIN_ENST00000355173.2_Silent_p.A266A|CTD-2062F14.3_ENST00000553301.1_lincRNA	p.A202A			Q9BUH8	BEGIN_HUMAN			5	4010	-		Melanoma(154;0.212)	266					Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	c.606G>A	CCDS9962.1																																																																																				0.726	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		11	27	0	0	0	1	0	11	27					T	101005290	C	T	101005290	2	4	294	1	0	0	0	0	0	0	0	1	1397	639	23	1		1	BEGAIN	14	101005290	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		101005290	6344250	25	30520											
POLR3K	51728	broad.mit.edu	37	chr16	97470	97470	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacactgagcattgcagcacTtgtagaaggtggtcatcggc	12	10	1	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:97470T>C	ENST00000293860.5	-	3	328	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	96					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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATTGCAGCACTTGTAGAAGGT	0.557																																						ENST00000293860.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(286-288)aAg>aGg		polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa							106	89	95					16																	97470		2203	4300	6503	SO:0001583	missense	51728				innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr16:97470T>C	AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"RNA polymerase subunits"	14121	protein-coding gene	gene with protein product		606007	"polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.287A>G	16.37:g.97470T>C	ENSP00000293860:p.Lys96Arg						p.K96R	NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN			3	328	-		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	96					Q1W6H4|Q96S35	Missense_Mutation	SNP	ENST00000293860.5	37	c.287A>G	CCDS10395.1	.	.	.	.	.	.	.	.	.	.	.	16.45	3.126404	0.56721	.	.	ENSG00000161980	ENST00000293860	T	0.46063	0.88	4.59	4.59	0.56863	Zinc finger, TFIIS-type (4);	0.043867	0.85682	D	0.000000	T	0.30823	0.0777	L	0.28344	0.845	0.58432	D	0.999999	B	0.16396	0.017	B	0.18263	0.021	T	0.07654	-1.0761	10	0.33141	T	0.24	-32.3182	13.2266	0.59919	0.0:0.0:0.0:1.0	.	96	Q9Y2Y1	RPC10_HUMAN	R	96	ENSP00000293860:K96R	ENSP00000293860:K96R	K	-	2	0	POLR3K	37470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.697000	0.74603	1.862000	0.54008	0.369000	0.22263	AAG		0.557	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134192.1	NM_016310		44	61	0	0	0	1	0	44	61					C	97470	T	C	97470	3	2	294	1	0	0	0	0	1	0	0	0	12237	1609	56	3	43	3	POLR3K	16	97470	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		97470	90257283	26	30521											
ACSM5	54988	broad.mit.edu	37	chr16	20435257	20435257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacggtgggtggccttgaccGaatctgacatcttctggaac	13	10	3	2	rs368337782		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:20435257G>A	ENST00000331849.4	+	6	934	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	263					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						GGCCTTGACCGAATCTGACAT	0.458																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(787-789)Gaa>Aaa		acyl-CoA synthetase medium-chain family member 5		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	195	183	187		787	1.4	0.1	16		187	0,8600		0,0,4300	no	missense	ACSM5	NM_017888.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	263/580	20435257	1,13005	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20435257G>A		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.787G>A	16.37:g.20435257G>A	ENSP00000327916:p.Glu263Lys						p.E263K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			6	934	+			263					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.787G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	7.810	0.715544	0.15306	2.27E-4	0.0	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.56	1.35	0.21983	AMP-dependent synthetase/ligase (1);	0.985279	0.08272	N	0.971277	T	0.41143	0.1146	L	0.58669	1.825	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.35226	-0.9797	10	0.38643	T	0.18	-5.0599	4.7342	0.12979	0.3617:0.2533:0.385:0.0	.	263	Q6NUN0	ACSM5_HUMAN	K	263	ENSP00000327916:E263K	ENSP00000327916:E263K	E	+	1	0	ACSM5	20342758	0.001000	0.12720	0.095000	0.20976	0.286000	0.27126	0.541000	0.23207	0.482000	0.27582	-0.136000	0.14681	GAA		0.458	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		4	153	0	0	0	1	0	4	153					A	20435257	G	A	20435257	3	1	294	1	0	0	0	0	1	0	0	0	187	1059	37	1	805	1	ACSM5	16	20435257	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08	20337787	20435257	69919496	27	30522											
WWOX	51741	broad.mit.edu	37	chr16	78458905	78458905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaggatgttttgtgCcgctcagctcctgcccgtgt	10	15	1	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:78458905C>T	ENST00000566780.1	+	7	1110	c.744C>T	c.(742-744)tgC>tgT	p.C248C	WWOX_ENST00000408984.3_Silent_p.C248C|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	248	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {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)	p.C248C(1)|p.A91V(1)		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)		ATGTTTTGTGCCGCTCAGCTC	0.507																																						ENST00000566780.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.C248C(1)|p.A91V(1)	urinary_tract(2)	large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(742-744)tgC>tgT		WW domain containing oxidoreductase							148	148	148					16																	78458905		2011	4186	6197	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78458905C>T	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.744C>T	16.37:g.78458905C>T						WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Silent_p.C248C	p.C248C	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		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)	7	1110	+		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)	248			Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.744C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	4.877	0.163070	0.09287	.	.	ENSG00000186153	ENST00000299644	.	.	.	5.66	2.26	0.28386	.	.	.	.	.	T	0.59500	0.2198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59021	-0.7532	5	0.66056	D	0.02	.	5.0119	0.14317	0.1435:0.5341:0.0:0.3224	.	.	.	.	V	91	.	ENSP00000299644:A91V	A	+	2	0	WWOX	77016406	0.801000	0.28930	1.000000	0.80357	0.871000	0.50021	-0.221000	0.09202	0.719000	0.32188	0.655000	0.94253	GCC		0.507	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			5	181	0	0	0	1	0	5	181					T	78458905	C	T	78458905	2	4	294	1	0	0	0	0	0	0	0	1	17411	747	26	2		2	WWOX	16	78458905	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	58023648	78458905	11895848	28	30523											
GEMIN4	50628	broad.mit.edu	37	chr17	650531	650531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcgtcctctgtcagcGcaaacacagtcagcatgtca	12	12	4	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					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)				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)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(718-720)gCg>gTg		gem (nuclear organelle) associated protein 4							87	95	92					17																	650531		2176	4267	6443	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650531G>A	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.752C>T	17.37:g.650531G>A	ENSP00000321706:p.Ala251Val					GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V|GEMIN4_ENST00000437269.1_Intron	p.A240V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2060	-		Myeloproliferative disorder(207;0.204)	251					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.719C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	195	0	0	0	1	0	6	195					A	650531	G	A	650531	3	1	294	1	0	0	0	0	1	0	0	0	6330	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		650531	80544679	29	30524											
KIAA0664	23277	broad.mit.edu	37	chr17	2595751	2595751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtcgtactccatcaccCcgtgcagcaccagcccgatg	9	17	1	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:2595751C>T	ENST00000570628.2	-	22	3452	c.3347G>A	c.(3346-3348)gGg>gAg	p.G1116E	CLUH_ENST00000538975.1_Missense_Mutation_p.G1116E|CLUH_ENST00000435359.1_Missense_Mutation_p.G1116E			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1116					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CTCCATCACCCCGTGCAGCAC	0.701																																						ENST00000570628.1																			0											c.(3346-3348)gGg>gAg		clustered mitochondria (cluA/CLU1) homolog							22	25	24					17																	2595751		2004	4165	6169	SO:0001583	missense	23277							g.chr17:2595751C>T	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.3347G>A	17.37:g.2595751C>T	ENSP00000458986:p.Gly1116Glu					CLUH_ENST00000435359.1_Missense_Mutation_p.G1116E|CLUH_ENST00000575014.1_Missense_Mutation_p.G1049E|CLUH_ENST00000538975.1_Missense_Mutation_p.G1116E	p.G1116E							22	3452	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.3347G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903299	0.92035	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.93307	-3.2;-3.2	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	L	0.44542	1.39	0.80722	D	1	P;D	0.60160	0.813;0.987	P;D	0.66497	0.714;0.944	D	0.90801	0.4694	10	0.08837	T	0.75	.	16.9919	0.86356	0.0:1.0:0.0:0.0	.	1116;1117	O75153;C9J6D7	K0664_HUMAN;.	E	1116;1117;1116	ENSP00000388872:G1116E;ENSP00000439628:G1116E	ENSP00000320468:G1117E	G	-	2	0	KIAA0664	2542501	1.000000	0.71417	0.637000	0.29366	0.938000	0.57974	7.651000	0.83577	2.494000	0.84150	0.561000	0.74099	GGG		0.701	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		11	51	0	0	0	1	0	11	51					T	2595751	C	T	2595751	3	4	294	1	0	0	0	0	1	0	0	0	8189	623	22	2	602	2	KIAA0664	17	2595751	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	1945220	2595751	78599459	30	30525											
FASN	2194	broad.mit.edu	37	chr17	80051592	80051592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccgaggtctcagagccGctcacgcccacccagacgcc	10	20	2	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:80051592G>A	ENST00000306749.2	-	4	554	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	112	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)			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)	TCTCAGAGCCGCTCACGCCCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				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						c.(334-336)agC>agT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						67	62	63					17																	80051592		2202	4296	6498	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80051592G>A	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.336C>T	17.37:g.80051592G>A							p.S112S	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		4	554	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		112			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.336C>T	CCDS11801.1																																																																																				0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		36	59	0	0	0	1	0	36	59					A	80051592	G	A	80051592	2	1	294	1	0	0	0	0	0	0	0	1	5683	1078	38	1		1	FASN	17	80051592	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	77455841	80051592	1143618	31	30526											
CIC	23152	broad.mit.edu	37	chr19	42791207	42791208	+	Frame_Shift_Del	DEL	AG	AG	-													gaacggccaccaggtgggacAgggagtgctgaccctgagcg							TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42791207_42791208delAG	ENST00000575354.2	+	3	307_308	c.267_268delAG	c.(265-270)acagggfs	p.G90fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.G999fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.G90fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	90	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)				CAGGTGGGACAGGGAGTGCTGA	0.649			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(2992-2997)acggfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791207_42791208delAG	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.267_268delAG	19.37:g.42791207_42791208delAG	ENSP00000458663:p.Gly90fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TG89fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TG89fs	p.TG998fs			Q96RK0	CIC_HUMAN			4	3062_3063	+		Prostate(69;0.00682)	89			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.2994_2995delAG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	102						8	102	---	---	---	---	-	42791208	AG	-	42791207	7	5	294	1	0	1	0	1	0	0	0	0	3424	175	7	0	277	0	CIC	19	42791207	Frame_Shift_Del	DEL	AG	TCGA-HT-8012-01A-11D-2395-08		42791207	16337776	32	30527			1	32		3	3	5348	N	TG_CAGT_AG	2.74401e-05
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-													ctggacggcggagaagtagaCagtcaggcgctacaggaact							TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42793215_42793218delCAGT	ENST00000575354.2	+	7	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.DS369fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.DS1278fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					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)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3832-3837)gafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793215_42793218delCAGT	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.1107_1110delCAGT	19.37:g.42793215_42793218delCAGT	ENSP00000458663:p.Asp369fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	p.DS1278fs			Q96RK0	CIC_HUMAN			8	3902_3905	+		Prostate(69;0.00682)	369			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3834_3837delCAGT	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			28	59						28	59	---	---	---	---	-	42793218	CAGT	-	42793215	7	5	294	1	0	1	0	1	0	0	0	0	3424	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-HT-8012-01A-11D-2395-08	2008	42793215	16335768	33	30528			1	32		3	3	5348	N	TG_CAGT_AG	2.74401e-05
CIC	23152	broad.mit.edu	37	chr19	42796554	42796555	+	Frame_Shift_Del	DEL	TG	TG	-													tcgtacgggcccacgagctcTgtagctctaggcttcacctc							TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42796554_42796555delTG	ENST00000575354.2	+	13	3151_3152	c.3111_3112delTG	c.(3109-3114)tctgtafs	p.V1038fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1947fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1038fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1038	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)				CCACGAGCTCTGTAGCTCTAGG	0.703			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5836-5841)tctafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796554_42796555delTG	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.3111_3112delTG	19.37:g.42796554_42796555delTG	ENSP00000458663:p.Val1038fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1037fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1037fs	p.SV1946fs			Q96RK0	CIC_HUMAN			14	5906_5907	+		Prostate(69;0.00682)	1037					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5838_5839delTG	CCDS12601.1																																																																																				0.703	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			11	46						11	46	---	---	---	---	-	42796555	TG	-	42796554	7	5	294	1	0	1	0	1	0	0	0	0	3424	1567	55	0	3161	0	CIC	19	42796554	Frame_Shift_Del	DEL	TG	TCGA-HT-8012-01A-11D-2395-08	3339	42796554	16332429	34	30529			1	32		3	3	5348	N	TG_CAGT_AG	2.74401e-05
ZNF587	84914	broad.mit.edu	37	chr19	58370971	58370971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaagggcaacctcgttcaCcatcagcgaggtcatactgg	10	12	3	0	rs201126888		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:58370971C>A	ENST00000339656.5	+	3	1373	c.1191C>A	c.(1189-1191)caC>caA	p.H397Q	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H354Q|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000423137.1_Missense_Mutation_p.H396Q	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	397					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)		ACCTCGTTCACCATCAGCGAG	0.463																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1189-1191)caC>caA		zinc finger protein 587							181	170	174					19																	58370971		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370971C>A	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.1191C>A	19.37:g.58370971C>A	ENSP00000345479:p.His397Gln					ZNF587_ENST00000423137.1_Missense_Mutation_p.H396Q|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H354Q|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	p.H397Q	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1373	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	397					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.1191C>A	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.784180	0.00079	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.17054	2.3;2.3;2.3	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.00661	-1.28	0.21064	N	0.999796	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36359	-0.9751	8	0.02654	T	1	.	5.6124	0.17412	0.2839:0.187:0.5291:0.0	.	396;397	G3V0H5;Q96SQ5	.;ZN587_HUMAN	Q	354;396;397;397;354	ENSP00000393865:H396Q;ENSP00000345479:H397Q;ENSP00000406999:H354Q	ENSP00000345479:H397Q	H	+	3	2	ZNF587	63062783	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-5.616000	0.00109	-1.444000	0.01950	-1.206000	0.01644	CAC		0.463	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		4	126	1	0	0.000602214	1	0.00066628	4	126					A	58370971	C	A	58370971	3	1	294	1	0	0	0	0	1	0	0	0	18017	506	18	4	1201	4	ZNF587	19	58370971	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	15574417	58370971	758012	35	30530											
MYH7B	57644	broad.mit.edu	37	chr20	33583356	33583358	+	In_Frame_Del	DEL	AGG	AGG	-													gacactggccaaagctgagaAggagaagcaagccactgaga							TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:33583356_33583358delAGG	ENST00000262873.7	+	26	3136_3138	c.3044_3046delAGG	c.(3043-3048)aaggag>aag	p.E1016del		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	974						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAAGCTGAGAAGGAGAAGCAAGC	0.645																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3043-3048)aag>a		myosin, heavy chain 7B, cardiac muscle, beta																																				SO:0001651	inframe_deletion	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33583356_33583358delAGG	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3044_3046delAGG	20.37:g.33583356_33583358delAGG	ENSP00000262873:p.Glu1016del						p.KE1015del	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		26	3136_3138	+			973					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	In_Frame_Del	DEL	ENST00000262873.7	37	c.3044_3046delAGG	CCDS42869.1																																																																																				0.645	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		19	29						19	29	---	---	---	---	-	33583358	AGG	-	33583356	7	5	294	1	0	1	0	1	0	0	0	0	10040	72	3	0	3146	0	MYH7B	20	33583356	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08		33583356	29442164	36	30531											
EYA2	2139	broad.mit.edu	37	chr20	45644820	45644820	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccctcttccttcaaagGcatcaagacagaagacagct	6	14	3	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:45644820G>A	ENST00000327619.5	+	5	673	c.299G>A	c.(298-300)aGc>aAc	p.S100N	EYA2_ENST00000357410.3_Splice_Site_p.S100N|EYA2_ENST00000317304.6_Splice_Site_p.S100N	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	100					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCCTTCAAAGGCATCAAGACA	0.507																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.e5-1		eyes absent homolog 2 (Drosophila)							170	160	163					20																	45644820		2203	4300	6503	SO:0001630	splice_region_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45644820G>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.299-1G>A	20.37:g.45644820G>A						EYA2_ENST00000317304.6_Splice_Site_p.S100_splice|EYA2_ENST00000357410.3_Splice_Site_p.S100_splice	p.S100_splice	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			5	673	+		Myeloproliferative disorder(115;0.0241)	100					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Splice_Site	SNP	ENST00000327619.5	37	c.298_splice	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041126	0.55003	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91631	-2.88;-2.47;-2.8;-0.64	5.82	5.82	0.92795	.	0.138463	0.64402	D	0.000004	D	0.86543	0.5958	N	0.22421	0.69	0.58432	D	0.999997	P;B;B;B	0.37663	0.604;0.041;0.052;0.013	B;B;B;B	0.34991	0.193;0.016;0.015;0.015	D	0.84806	0.0787	9	.	.	.	.	18.8705	0.92311	0.0:0.0:1.0:0.0	.	100;100;100;100	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	N	100;100;100;100;53	ENSP00000333640:S100N;ENSP00000349986:S100N;ENSP00000321590:S100N;ENSP00000395427:S53N	.	S	+	2	0	EYA2	45078227	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.572000	0.67411	2.752000	0.94435	0.655000	0.94253	AGC		0.507	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	Missense_Mutation	6	156	0	0	0	1	0	6	156					A	45644820	G	A	45644820	5	1	294	1	0	0	0	0	0	0	1	0	5329	1217	42	2	313	2	EYA2	20	45644820	Splice_Site	SNP	G	TCGA-HT-8012-01A-11D-2395-08	12061464	45644820	17380700	37	30532											
BAGE2	85319	broad.mit.edu	37	chr21	11058183	11058183	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaggagcttggtcaatGtgttctggacaaagcaggaa	12	7	3	0	rs542191279	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr21:11058183G>A	ENST00000470054.1	-	0	464							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGGTCAATGTGTTCTGGAC	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							97	78	84					21																	11058183		692	1591	2283			85319							g.chr21:11058183G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058183G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	464	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	91	0	0	0	1	0	4	91					A	11058183	G	A	11058183	1	1	294	0	1	0	0	0	0	0	0	0	1292	1377	48	2		2	BAGE2	21	11058183	RNA	SNP	G	TCGA-HT-8012-01A-11D-2395-08		11058183	37071712	38	30533											
ARR3	407	broad.mit.edu	37	chrX	69500075	69500075	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggacaaagagctgctGgggatcctggtgtcctacaa	14	8	0	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:69500075G>T	ENST00000307959.8	+	13	987	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ARR3_ENST00000374495.3_Silent_p.L312L|RAB41_ENST00000276066.4_5'Flank|RAB41_ENST00000374473.2_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	312					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AAGAGCTGCTGGGGATCCTGG	0.502																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(934-936)ctG>ctT		arrestin 3, retinal (X-arrestin)							236	182	200					X																	69500075		2203	4300	6503	SO:0001819	synonymous_variant	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69500075G>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.936G>T	X.37:g.69500075G>T						ARR3_ENST00000307959.8_Silent_p.L312L	p.L312L			P36575	ARRC_HUMAN			13	1034	+			312					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	c.936G>T	CCDS14399.1																																																																																				0.502	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		51	79	1	0	2.84144e-21	1	3.28344e-21	51	79					T	69500075	G	T	69500075	2	4	294	1	0	0	0	0	0	0	0	1	979	1335	47	4		4	ARR3	23	69500075	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		69500075	85770485	39	30534											
TAF1	6872	broad.mit.edu	37	chrX	70679529	70679529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggaagatgctgggaGtgatgaagaaggagacaatc	16	3	0	7			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:70679529G>T	ENST00000373790.4	+	36	5240	c.5189G>T	c.(5188-5190)aGt>aTt	p.S1730I	TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I|TAF1_ENST00000449580.1_Missense_Mutation_p.S1764I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000461764.1_3'UTR	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	1730	Asp/Glu-rich (acidic tail).|Protein kinase 2.				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)			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)				GATGCTGGGAGTGATGAAGAA	0.468																																						ENST00000449580.1																			0				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						c.(5290-5292)aGt>aTt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							268	196	220					X																	70679529		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70679529G>T		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.5189G>T	X.37:g.70679529G>T	ENSP00000362895:p.Ser1730Ile					TAF1_ENST00000373790.4_Missense_Mutation_p.S1730I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I	p.S1764I			P21675	TAF1_HUMAN			37	5342	+	Renal(35;0.156)	all_lung(315;0.000321)	1730			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.5291G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882635|3.882635	0.72410|0.72410	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.12361|.	2.69;2.87;2.75;2.69|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59528|0.59528	0.2200|0.2200	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.998;0.997;0.99;0.994|.	D;D;D;D|.	0.80764|.	0.994;0.994;0.962;0.983|.	T|T	0.56420|0.56420	-0.7982|-0.7982	10|5	0.44086|.	T|.	0.13|.	.|.	17.1356|17.1356	0.86738|0.86738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	420;1764;1730;1751|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	I|L	1730;1764;1753;472;1751|419	ENSP00000362895:S1730I;ENSP00000389000:S1764I;ENSP00000406549:S1753I;ENSP00000276072:S1751I|.	ENSP00000276072:S1751I|.	S|V	+|+	2|1	0|0	TAF1|TAF1	70596254|70596254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.955000|8.955000	0.93058|0.93058	2.224000|2.224000	0.72417|0.72417	0.529000|0.529000	0.55759|0.55759	AGT|GTG		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		5	124	1	0	0.00116845	1	0.00123998	5	124					T	70679529	G	T	70679529	3	4	294	1	0	0	0	0	1	0	0	0	15510	1029	36	4	5394	4	TAF1	23	70679529	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08	1179454	70679529	84591031	40	30535											
DOCK11	139818	broad.mit.edu	37	chrX	117752578	117752578	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttcttggttggtctacttCtgagggaaacttccattgct	9	9	3	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:117752578C>A	ENST00000276202.7	+	31	3421	c.3358C>A	c.(3358-3360)Ctg>Atg	p.L1120M	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1120M	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1120					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						TGGTCTACTTCTGAGGGAAAC	0.333																																						ENST00000276204.6																			0				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						c.(3358-3360)Ctg>Atg		dedicator of cytokinesis 11							111	96	101					X																	117752578		2203	4299	6502	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117752578C>A	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.3358C>A	X.37:g.117752578C>A	ENSP00000276202:p.Leu1120Met					DOCK11_ENST00000276202.7_Missense_Mutation_p.L1120M	p.L1120M			Q5JSL3	DOC11_HUMAN			31	3432	+			1120					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3358C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532483	0.64972	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.97303	-4.33;-4.33	5.68	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.77712	2.385	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96949	0.9693	10	0.38643	T	0.18	-8.3181	11.7923	0.52075	0.0:0.8537:0.0:0.1463	.	1120;1120	A6NIW2;Q5JSL3	.;DOC11_HUMAN	M	1120	ENSP00000276204:L1120M;ENSP00000276202:L1120M	ENSP00000276202:L1120M	L	+	1	2	DOCK11	117636606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.461000	0.53035	0.661000	0.30985	0.544000	0.68410	CTG		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		4	101	1	0	0.00909568	1	0.00945951	4	101					A	117752578	C	A	117752578	3	1	294	1	0	0	0	0	1	0	0	0	4686	912	32	4	3480	4	DOCK11	23	117752578	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	47073049	117752578	37517982	41	30536											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	193						7	193	---	---	---	---	-	151303908	AGG	-	151303906	7	5	294	1	0	1	0	1	0	0	0	0	9164	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08	33551328	151303906	3966654	42	30537											
CTAG2	30848	broad.mit.edu	37	chrX	153881577	153881577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggcaccttccatcctgCgcagaagcggcaccgccatg	12	16	0	1	rs140132753		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:153881577C>T	ENST00000247306.4	-	1	276	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTAG2_ENST00000369585.3_Silent_p.A71A	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	71	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					TTCCATCCTGCGCAGAAGCGG	0.711																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(211-213)gcG>gcA		cancer/testis antigen 2		C	,	1,3819		0,1,1627,564	26	26	26		213,213	-3.8	0	X	dbSNP_134	26	1,6712		0,1,2423,1865	no	coding-synonymous,coding-synonymous	CTAG2	NM_020994.3,NM_172377.3	,	0,2,4050,2429	TT,TC,CC,C		0.0149,0.0262,0.019	,	71/211,71/181	153881577	2,10531	2192	4289	6481	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153881577C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"CTL-recognized antigen on melanoma", "LAGE-1a protein", "cancer/testis antigen family 6, member 2a", "cancer/testis antigen family 6, member 2b"	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.213G>A	X.37:g.153881577C>T						CTAG2_ENST00000369585.3_Silent_p.A71A	p.A71A	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			1	276	-	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)		71			Gly-rich.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.213G>A	CCDS14759.1																																																																																				0.711	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		19	57	0	0	0	1	0	19	57					T	153881577	C	T	153881577	2	4	294	1	0	0	0	0	0	0	0	1	3991	755	27	1		1	CTAG2	23	153881577	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	2577671	153881577	1388983	43	30538											
KANK4	163782	broad.mit.edu	37	chr1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacttccggctggagacgCggaaccactcttgactgatg	12	12	1	3	rs374086260		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000354381.3_Missense_Mutation_p.R158H|KANK4_ENST00000371150.1_Missense_Mutation_p.R142H|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774). {ECO:0000305}.		cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(2356-2358)cGc>cAc		KN motif and ankyrin repeat domains 4		C	HIS/ARG	0,4406		0,0,2203	69	55	60		2357	5.3	1	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	786/996	62728946	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62728946C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2357G>A	1.37:g.62728946C>T	ENSP00000360195:p.Arg786His					KANK4_ENST00000371150.1_Missense_Mutation_p.R142H|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H	p.R786H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			7	2735	-			786	R -> H (in Ref. 1; BAC03774).				B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2357G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008210	0.93346	0.0	1.16E-4	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.57752	0.38;0.47;0.48	5.3	5.3	0.74995	.	0.000000	0.35378	N	0.003260	T	0.73273	0.3566	M	0.85777	2.775	0.50313	D	0.999866	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.943	T	0.77281	-0.2646	10	0.72032	D	0.01	-13.7329	13.1198	0.59318	0.0:0.9161:0.0:0.0839	.	158;786	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	H	786;158;142	ENSP00000360195:R786H;ENSP00000346352:R158H;ENSP00000360192:R142H	ENSP00000346352:R158H	R	-	2	0	KANK4	62501534	0.971000	0.33674	0.960000	0.40013	0.984000	0.73092	2.379000	0.44318	2.654000	0.90174	0.561000	0.74099	CGC		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		17	13	0	0	0	1	0	17	13					T	62728946	C	T	62728946	3	4	295	1	0	0	0	0	1	0	0	0	7979	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		62728946	186521675	1	30539											
RYR2	6262	broad.mit.edu	37	chr1	237730050	237730050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttggctcagatgaacGtgcctttgcctttgatggct	13	9	1	3	rs374397612		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:237730050G>A	ENST00000366574.2	+	28	3715	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1133	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			TCAGATGAACGTGCCTTTGCC	0.527																																						ENST00000366574.2																			0				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						c.(3397-3399)cGt>cAt		ryanodine receptor 2 (cardiac)		G	HIS/ARG	1,4191		0,1,2095	191	191	191		3398	-1	0.3	1		191	0,8436		0,0,4218	no	missense	RYR2	NM_001035.2	29	0,1,6313	AA,AG,GG		0.0,0.0239,0.0079	benign	1133/4968	237730050	1,12627	2096	4218	6314	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730050G>A	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.3398G>A	1.37:g.237730050G>A	ENSP00000355533:p.Arg1133His					RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H	p.R1133H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3715	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1133			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3398G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319022	0.23994	2.39E-4	0.0	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.59906	0.23;0.23;0.23	5.29	-0.961	0.10337	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.829817	0.10249	N	0.697444	T	0.27798	0.0684	N	0.04090	-0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15292	-1.0442	10	0.15952	T	0.53	.	5.7522	0.18152	0.5671:0.0:0.2929:0.14	.	1133	Q92736	RYR2_HUMAN	H	1133;1131;1117	ENSP00000355533:R1133H;ENSP00000353174:R1131H;ENSP00000443798:R1117H	ENSP00000353174:R1131H	R	+	2	0	RYR2	235796673	0.932000	0.31603	0.316000	0.25252	0.975000	0.68041	1.239000	0.32719	0.001000	0.14605	0.655000	0.94253	CGT		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		88	126	0	0	0	1	0	88	126					A	237730050	G	A	237730050	3	1	295	1	0	0	0	0	1	0	0	0	13769	1145	40	1	3508	1	RYR2	1	237730050	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	175001104	237730050	11520571	2	30540											
RGPD3	653489	broad.mit.edu	37	chr2	107041183	107041183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttaagttccccaagccCctttctttccactgacttac	3	14	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:107041183C>T	ENST00000409886.3	-	20	3327	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R	RGPD3_ENST00000304514.7_Silent_p.R1080R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1080	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCCAAGCCCCTTTCTTTCC	0.378																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3238-3240)agG>agA		RANBP2-like and GRIP domain containing 3							6	8	7					2																	107041183		675	1544	2219	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107041183C>T		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.3240G>A	2.37:g.107041183C>T						RGPD3_ENST00000304514.7_Silent_p.R1080R	p.R1080R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3327	-			1080			RanBD1 1.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.3240G>A	CCDS46379.1																																																																																				0.378	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		175	268	0	0	0	1	0	175	268					T	107041183	C	T	107041183	2	4	295	1	0	0	0	0	0	0	0	1	13287	622	22	2		2	RGPD3	2	107041183	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08		107041183	136158190	3	30541											
TTN	7273	broad.mit.edu	37	chr2	179443923	179443923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcatcagatttttggcaatCgtacactataagagttgtgt	9	6	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:179443923C>T	ENST00000591111.1	-	270	63135	c.62911G>A	c.(62911-62913)Gat>Aat	p.D20971N	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22612N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20971	Ig-like 112.				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)			TTTTGGCAATCGTACACTATA	0.443																																						ENST00000589042.1																			0				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						c.(67834-67836)Gat>Aat		titin							130	126	127					2																	179443923		1935	4123	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443923C>T	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.62911G>A	2.37:g.179443923C>T	ENSP00000465570:p.Asp20971Asn					TTN_ENST00000591111.1_Missense_Mutation_p.D20971N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N	p.D22612N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	68058	-			20971			Fibronectin type-III 64.		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	ENST00000591111.1	37	c.67834G>A		.	.	.	.	.	.	.	.	.	.	C	16.87	3.242397	0.58995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53818	0.1820	N	0.19112	0.55	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;0.999;0.999	T	0.57625	-0.7779	9	0.87932	D	0	.	20.4293	0.99080	0.0:1.0:0.0:0.0	.	13547;13672;13739;20971	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20044;13547;13739;13672;13545	ENSP00000343764:D20044N;ENSP00000434586:D13547N;ENSP00000340554:D13739N;ENSP00000352154:D13672N	ENSP00000340554:D13739N	D	-	1	0	TTN	179152169	1.000000	0.71417	0.755000	0.31263	0.956000	0.61745	7.770000	0.85390	2.833000	0.97629	0.655000	0.94253	GAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	50	0	0	0	1	0	38	50					T	179443923	C	T	179443923	3	4	295	1	0	0	0	0	1	0	0	0	16732	884	31	1	40317	1	TTN	2	179443923	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	72402740	179443923	63755450	4	30542											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	33	0	0	0	1	0	30	33					T	209113112	C	T	209113112	3	4	295	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	29669189	209113112	34086261	5	30543											
ZCWPW2	152098	broad.mit.edu	37	chr3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattaaaagctggagaatGtattgaggatataactaata	8	2	0	2	rs527953274		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:28566121G>A	ENST00000383768.2	+	10	1201	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	338							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13528	0.0		0.0	False		,,,				2504	0.0					ENST00000383768.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						c.(1012-1014)tGt>tAt		zinc finger, CW type with PWWP domain 2							61	70	67					3																	28566121		2199	4298	6497	SO:0001583	missense	152098						zinc ion binding	g.chr3:28566121G>A	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.1013G>A	3.37:g.28566121G>A	ENSP00000373278:p.Cys338Tyr					ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y	p.C338Y			Q504Y3	ZCPW2_HUMAN			10	1201	+			338						Missense_Mutation	SNP	ENST00000383768.2	37	c.1013G>A	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.265730|3.265730	0.59540|0.59540	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	T;T|.	0.51071|.	0.72;0.72|.	6.03|6.03	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.40670|0.40670	0.1126|0.1126	L|L	0.34521|0.34521	1.04|1.04	0.32374|0.32374	N|N	0.55549|0.55549	B|.	0.17465|.	0.022|.	B|.	0.14578|.	0.011|.	T|T	0.47018|0.47018	-0.9149|-0.9149	10|5	0.87932|.	D|.	0|.	-18.8087|-18.8087	9.7617|9.7617	0.40537|0.40537	0.2195:0.0:0.7805:0.0|0.2195:0.0:0.7805:0.0	.|.	338|.	Q504Y3|.	ZCPW2_HUMAN|.	Y|I	338|222	ENSP00000373278:C338Y;ENSP00000412386:C338Y|.	ENSP00000373278:C338Y|.	C|M	+|+	2|3	0|0	ZCWPW2|ZCWPW2	28541125|28541125	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	2.944000|2.944000	0.49034|0.49034	0.436000|0.436000	0.26393|0.26393	-0.123000|-0.123000	0.14984|0.14984	TGT|ATG		0.303	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		8	56	0	0	0	1	0	8	56					A	28566121	G	A	28566121	3	1	295	1	0	0	0	0	1	0	0	0	17595	1377	48	2	1043	2	ZCWPW2	3	28566121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		28566121	169456309	6	30544											
TKT	7086	broad.mit.edu	37	chr3	53276168	53276168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacaaagcggtcattgtgCggattccgggggtcctggga	16	9	1	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:53276168C>T	ENST00000462138.1	-	2	286	c.198G>A	c.(196-198)ccG>ccA	p.P66P	TKT_ENST00000423516.1_Silent_p.P66P|TKT_ENST00000296289.6_Silent_p.P19P|TKT_ENST00000423525.2_Silent_p.P66P			P29401	TKT_HUMAN	transketolase	66					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)		GGTCATTGTGCGGATTCCGGG	0.617																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(196-198)ccG>ccA		transketolase	Thiamine(DB00152)						106	104	105					3																	53276168		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53276168C>T		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.198G>A	3.37:g.53276168C>T						TKT_ENST00000423525.2_Silent_p.P66P|TKT_ENST00000423516.1_Silent_p.P66P|TKT_ENST00000296289.6_Silent_p.P19P	p.P66P			P29401	TKT_HUMAN		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)	2	286	-		Prostate(884;0.0959)	66					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.198G>A	CCDS2871.1																																																																																				0.617	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			4	103	0	0	0	1	0	4	103					T	53276168	C	T	53276168	2	4	295	1	0	0	0	0	0	0	0	1	15931	755	27	1		1	TKT	3	53276168	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08	24710047	53276168	144746262	7	30545											
POLQ	10721	broad.mit.edu	37	chr3	121158888	121158888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcctggcaaatatctaCgccttcccaaaatggtctga	7	11	2	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:121158888C>T	ENST00000264233.5	-	27	7468	c.7340G>A	c.(7339-7341)cGt>cAt	p.R2447H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2447					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)		CAAATATCTACGCCTTCCCAA	0.328								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				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						c.(7339-7341)cGt>cAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							127	124	125					3																	121158888		2201	4300	6501	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121158888C>T	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.7340G>A	3.37:g.121158888C>T	ENSP00000264233:p.Arg2447His						p.R2447H	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	27	7468	-			2447					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.7340G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445164	0.83993	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97752	-4.52	5.05	4.17	0.49024	DNA-directed DNA polymerase, family A, palm domain (2);	0.119263	0.56097	D	0.000030	D	0.98485	0.9495	M	0.81942	2.565	0.31784	N	0.630567	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98342	1.0539	10	0.87932	D	0	.	13.0077	0.58715	0.0:0.9216:0.0:0.0784	.	2447;1619	O75417;O75417-2	DPOLQ_HUMAN;.	H	2070;2447;2583	ENSP00000264233:R2447H	ENSP00000264233:R2447H	R	-	2	0	POLQ	122641578	0.785000	0.28726	0.998000	0.56505	0.993000	0.82548	1.938000	0.40203	1.363000	0.46019	0.563000	0.77884	CGT		0.328	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		19	32	0	0	0	1	0	19	32					T	121158888	C	T	121158888	3	4	295	1	0	0	0	0	1	0	0	0	12208	536	19	1	448	1	POLQ	3	121158888	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	67882720	121158888	76863542	8	30546											
ESYT3	83850	broad.mit.edu	37	chr3	138192428	138192428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagattcagctcacagtgcGctatgtgtgtctgcggcgct	13	10	3	1	rs369262503		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:138192428G>A	ENST00000389567.4	+	19	2474	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	763	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCACAGTGCGCTATGTGTGT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18081	0.0		0.0	False		,,,				2504	0.001					ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2287-2289)cGc>cAc		extended synaptotagmin-like protein 3		G	HIS/ARG	1,4159		0,1,2079	102	110	107		2288	4.8	1	3		107	0,8426		0,0,4213	no	missense	ESYT3	NM_031913.3	29	0,1,6292	AA,AG,GG		0.0,0.024,0.0079	probably-damaging	763/887	138192428	1,12585	2080	4213	6293	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138192428G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2288G>A	3.37:g.138192428G>A	ENSP00000374218:p.Arg763His					ESYT3_ENST00000460133.1_3'UTR	p.R763H	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			19	2474	+			763			C2 3.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2288G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964455	0.92791	2.4E-4	0.0	ENSG00000158220	ENST00000389567	T	0.08634	3.07	5.66	4.77	0.60923	C2 calcium/lipid-binding domain, CaLB (1);	0.074664	0.53938	D	0.000043	T	0.09423	0.0232	M	0.69358	2.11	0.80722	D	1	P	0.37207	0.587	B	0.22152	0.038	T	0.03784	-1.1004	10	0.54805	T	0.06	-15.6985	12.8763	0.57991	0.0812:0.0:0.9188:0.0	.	763	A0FGR9	ESYT3_HUMAN	H	763	ENSP00000374218:R763H	ENSP00000374218:R763H	R	+	2	0	ESYT3	139675118	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.234000	0.65343	2.665000	0.90641	0.650000	0.86243	CGC		0.562	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		62	93	0	0	0	1	0	62	93					A	138192428	G	A	138192428	3	1	295	1	0	0	0	0	1	0	0	0	5266	1087	38	1	2362	1	ESYT3	3	138192428	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	17033540	138192428	59830002	9	30547											
GLP1R	2740	broad.mit.edu	37	chr6	39046913	39046913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcatctttgttcgggTcatctgcatcgtggtatcca	8	12	4	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:39046913T>C	ENST00000373256.4	+	10	1023	c.980T>C	c.(979-981)gTc>gCc	p.V327A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	327					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)			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)	TTTGTTCGGGTCATCTGCATC	0.557																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(979-981)gTc>gCc		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						139	136	137					6																	39046913		2203	4300	6503	SO:0001583	missense	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39046913T>C		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.980T>C	6.37:g.39046913T>C	ENSP00000362353:p.Val327Ala						p.V327A	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			10	1023	+			327					Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.980T>C	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778289	0.90195	.	.	ENSG00000112164	ENST00000373256	T	0.51574	0.7	5.15	5.15	0.70609	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000018	T	0.55465	0.1922	M	0.73217	2.22	0.47778	D	0.999518	P	0.46578	0.88	P	0.56960	0.81	T	0.62348	-0.6873	10	0.87932	D	0	.	14.9711	0.71235	0.0:0.0:0.0:1.0	.	327	P43220	GLP1R_HUMAN	A	327	ENSP00000362353:V327A	ENSP00000362353:V327A	V	+	2	0	GLP1R	39154891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.154000	0.71826	1.946000	0.56461	0.459000	0.35465	GTC		0.557	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			4	158	0	0	0	1	0	4	158					C	39046913	T	C	39046913	3	2	295	1	0	0	0	0	1	0	0	0	6452	1667	58	3	1018	3	GLP1R	6	39046913	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08		39046913	132068154	10	30548											
FAM71F2	346653	broad.mit.edu	37	chr7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagggtctgccaccGtgatcctcggggtcacctcc	12	14	3	2	rs562611087		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(229-231)Gtg>Atg		family with sequence similarity 71, member F2							56	57	57					7																	128315777		1964	4156	6120	SO:0001583	missense	346653							g.chr7:128315777G>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.229G>A	7.37:g.128315777G>A	ENSP00000420140:p.Val77Met					FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M	p.V77M			Q6NXP2	F71F2_HUMAN			2	335	+			77					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.229G>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002714	0.07819	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.36699	2.7;2.7;2.7;2.7;1.24	4.67	-0.317	0.12736	.	0.673556	0.12970	N	0.424223	T	0.19406	0.0466	L	0.28556	0.865	0.09310	N	1	B;B	0.34181	0.422;0.44	B;B	0.21151	0.033;0.015	T	0.09207	-1.0685	10	0.32370	T	0.25	-6.2493	7.8121	0.29237	0.3615:0.0:0.6385:0.0	.	68;77	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	M	68;77;68;68;77	ENSP00000418907:V68M;ENSP00000420140:V77M;ENSP00000367976:V68M;ENSP00000401654:V68M;ENSP00000419649:V77M	ENSP00000367976:V68M	V	+	1	0	FAM71F2	128103013	0.066000	0.20996	0.033000	0.17914	0.699000	0.40488	0.062000	0.14389	-0.162000	0.10964	-0.484000	0.04775	GTG		0.582	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			3	44	0	0	0	1	0	3	44					A	128315777	G	A	128315777	3	1	295	1	0	0	0	0	1	0	0	0	5613	1145	40	1	235	1	FAM71F2	7	128315777	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		128315777	30822886	11	30549											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829342	146829342	+	Frame_Shift_Del	DEL	T	T	-													ctttctattttacagggaaaTttgagcttttcttgtgtgga							TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:146829342delT	ENST00000361727.3	+	8	1605	c.1089delT	c.(1087-1089)aatfs	p.N363fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	363	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)			TACAGGGAAATTTGAGCTTTT	0.428										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(1087-1089)aafs		contactin associated protein-like 2							106	107	107					7																	146829342		2203	4300	6503	SO:0001589	frameshift_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829342delT	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.1089delT	7.37:g.146829342delT	ENSP00000354778:p.Asn363fs	HNSCC(39;0.1)					p.N363fs	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1605	+	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)	363			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Frame_Shift_Del	DEL	ENST00000361727.3	37	c.1089delT	CCDS5889.1																																																																																				0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			64	54						64	54	---	---	---	---	-	146829342	T	-	146829342	7	5	295	1	0	1	0	1	0	0	0	0	3647	1490	52	0	1119	0	CNTNAP2	7	146829342	Frame_Shift_Del	DEL	T	TCGA-HT-8013-01A-11D-2395-08	18513565	146829342	12309321	12	30550											
C8orf40	114926	broad.mit.edu	37	chr8	42401645	42401645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttatggagtgatgggtgaCgatggttctattgattatac	14	3	1	3			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:42401645C>T	ENST00000438528.3	+	2	79	c.30C>T	c.(28-30)gaC>gaT	p.D10D	SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000490331.2_Silent_p.D10D|SMIM19_ENST00000417410.2_Silent_p.D10D|SMIM19_ENST00000414154.2_Silent_p.D10D|SMIM19_ENST00000416469.2_Silent_p.D10D	NM_001135676.1	NP_001129148.1	Q96E16	SMI19_HUMAN	small integral membrane protein 19	10						integral component of membrane (GO:0016021)											TGATGGGTGACGATGGTTCTA	0.433																																						ENST00000438528.3																			0											c.(28-30)gaC>gaT		small integral membrane protein 19							185	159	168					8																	42401645		2203	4300	6503	SO:0001819	synonymous_variant	114926							g.chr8:42401645C>T	BC013035	CCDS6133.2	8p11.21	2013-03-08	2013-03-08	2013-03-08	ENSG00000176209	ENSG00000176209			25166	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 40"	C8orf40		12477932	Standard	NM_001135674		Approved		uc011lcv.2	Q96E16	OTTHUMG00000157060	ENST00000438528.3:c.30C>T	8.37:g.42401645C>T						SMIM19_ENST00000417410.2_Silent_p.D10D|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000416469.2_Silent_p.D10D|SMIM19_ENST00000414154.2_Silent_p.D10D|SMIM19_ENST00000490331.2_Silent_p.D10D	p.D10D	NM_001135676.1	NP_001129148.1					2	79	+								B2R4S6|D3DSY4	Silent	SNP	ENST00000438528.3	37	c.30C>T	CCDS6133.2																																																																																				0.433	SMIM19-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347309.2	NM_138436		42	107	0	0	0	1	0	42	107					T	42401645	C	T	42401645	2	4	295	1	0	0	0	0	0	0	0	1	2426	535	19	1		1	C8orf40	8	42401645	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08		42401645	103962377	13	30551											
RBM12B	389677	broad.mit.edu	37	chr8	94745679	94745679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccaactggcctatcaTttagatctttaatagcagcc	9	11	2	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:94745679T>C	ENST00000399300.2	-	3	3173	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	987	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)			TGGCCTATCATTTAGATCTTT	0.378																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2959-2961)aAt>aGt		RNA binding motif protein 12B							41	39	40					8																	94745679		1828	4092	5920	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94745679T>C		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.2960A>G	8.37:g.94745679T>C	ENSP00000382239:p.Asn987Ser					RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	p.N987S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	3173	-	Breast(36;4.14e-07)		987			RRM 4.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2960A>G	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058575	0.55325	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.08634	3.07;3.07	5.45	4.3	0.51218	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	4.592560	0.00589	N	0.000359	T	0.15478	0.0373	L	0.58428	1.81	0.22975	N	0.99849	B	0.32283	0.362	B	0.34301	0.179	T	0.38735	-0.9647	10	0.62326	D	0.03	1.0726	10.4768	0.44670	0.0:0.0775:0.0:0.9225	.	987	Q8IXT5	RB12B_HUMAN	S	987;867	ENSP00000382239:N987S;ENSP00000427729:N867S	ENSP00000382239:N987S	N	-	2	0	RBM12B	94814855	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	2.831000	0.48144	0.924000	0.37069	0.460000	0.39030	AAT		0.378	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		23	29	0	0	0	1	0	23	29					C	94745679	T	C	94745679	3	2	295	1	0	0	0	0	1	0	0	0	13114	1493	52	3	49	3	RBM12B	8	94745679	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	52344034	94745679	51618343	14	30552											
ZNF438	220929	broad.mit.edu	37	chr10	31134429	31134429	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagtaatctgacaacgacCacatttgatttgtaatttga	7	7	1	3			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:31134429C>G	ENST00000361310.3	-	7	2277	c.1948G>C	c.(1948-1950)Ggt>Cgt	p.G650R	ZNF438_ENST00000452305.1_Missense_Mutation_p.G640R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G601R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	650					negative regulation of transcription, DNA-templated (GO:0045892)|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(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGACAACGACCACATTTGATT	0.393																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1801-1803)Ggt>Cgt		zinc finger protein 438							73	74	74					10																	31134429		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31134429C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1948G>C	10.37:g.31134429C>G	ENSP00000354663:p.Gly650Arg					ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G640R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G650R	p.G601R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			8	2555	-		Prostate(175;0.0587)	650					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1801G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562377	0.86335	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.73;2.73;2.73;2.73;2.72;2.72;2.72;2.75	5.95	5.05	0.67936	Zinc finger, C2H2-like (1);	0.043382	0.85682	D	0.000000	T	0.36496	0.0969	M	0.72894	2.215	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.12142	-1.0559	10	0.56958	D	0.05	-23.1325	14.0015	0.64436	0.0:0.9283:0.0:0.0717	.	650;640	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	640;650;650;650;650;640;640;601;369;214	ENSP00000333571:G640R;ENSP00000354663:G650R;ENSP00000406934:G650R;ENSP00000412363:G650R;ENSP00000387546:G650R;ENSP00000413060:G640R;ENSP00000410898:G640R;ENSP00000445461:G601R;ENSP00000364460:G214R	ENSP00000333571:G640R	G	-	1	0	ZNF438	31174435	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.174000	0.58256	1.530000	0.49136	0.655000	0.94253	GGT		0.393	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		29	62	0	0	0	1	0	29	62					G	31134429	C	G	31134429	3	3	295	1	0	0	0	0	1	0	0	0	17907	594	21	4	542	4	ZNF438	10	31134429	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		31134429	104400318	15	30553											
STK32C	10570	broad.mit.edu	37	chr10	134021578	134021578	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcggagcgttccgcctcgTcctccacaggctccgcagca	13	17	0	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:134021578T>C	ENST00000338492.4	+	0	2729				STK32C_ENST00000368625.4_Missense_Mutation_p.D479G|STK32C_ENST00000368622.1_Missense_Mutation_p.D349G	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTCCGCCTCGTCCTCCACAGG	0.706																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(1045-1047)gAc>gGc		serine/threonine kinase 32C							34	36	36					10																	134021578		2194	4298	6492	SO:0001628	intergenic_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134021578T>C	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283		10.37:g.134021578T>C						STK32C_ENST00000368625.4_Missense_Mutation_p.D479G	p.D349G			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	12	1427	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	466			Protein kinase.		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1046A>G	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387489	0.42308	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.68479	-0.33;-0.19;-0.26	4.81	4.81	0.61882	.	1.427760	0.05032	U	0.474717	T	0.61813	0.2377	L	0.36672	1.1	0.09310	N	1	B;B;P	0.48162	0.003;0.329;0.906	B;B;B	0.43386	0.003;0.065;0.418	T	0.49437	-0.8940	10	0.25751	T	0.34	.	10.7907	0.46432	0.0:0.0:0.0:1.0	.	479;466;349	B7Z7J1;Q86UX6;Q86UX6-2	.;ST32C_HUMAN;.	G	349;466;479	ENSP00000357611:D349G;ENSP00000298630:D466G;ENSP00000357614:D479G	ENSP00000298630:D466G	D	-	2	0	STK32C	133871568	0.810000	0.29049	0.038000	0.18304	0.119000	0.20118	1.306000	0.33505	1.806000	0.52798	0.397000	0.26171	GAC		0.706	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			3	30	0	0	0	1	0	3	30					C	134021578	T	C	134021578	1	2	295	0	1	0	0	0	0	0	0	0	15298	1667	58	3		3	STK32C	10	134021578	IGR	SNP	T	TCGA-HT-8013-01A-11D-2395-08	102887149	134021578	1513169	16	30554											
ZNF215	7762	broad.mit.edu	37	chr11	6977476	6977476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccgacgtacaaaccttaCtaagcatcaaaaacttcatg	4	12	2	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:6977476C>T	ENST00000278319.5	+	7	1856	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	423					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACAAACCTTACTAAGCATCAA	0.408																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1267-1269)aCt>aTt		zinc finger protein 215							80	78	78					11																	6977476		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977476C>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1268C>T	11.37:g.6977476C>T	ENSP00000278319:p.Thr423Ile					ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I|ZNF215_ENST00000529903.1_Intron	p.T423I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1856	+			423					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1268C>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	C	8.073	0.770679	0.15983	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.60299	0.2;0.2	4.85	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.822427	0.10475	N	0.670347	T	0.27832	0.0685	N	0.12746	0.255	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.19386	-1.0307	10	0.11485	T	0.65	0.6941	1.3047	0.02086	0.2617:0.3913:0.1159:0.2311	.	423	Q9UL58	ZN215_HUMAN	I	423	ENSP00000278319:T423I;ENSP00000393202:T423I	ENSP00000278319:T423I	T	+	2	0	ZNF215	6934052	0.000000	0.05858	0.319000	0.25293	0.500000	0.33767	-3.426000	0.00475	-0.213000	0.10094	-0.140000	0.14226	ACT		0.408	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			7	31	0	0	0	1	0	7	31					T	6977476	C	T	6977476	3	4	295	1	0	0	0	0	1	0	0	0	17768	565	20	2	1286	2	ZNF215	11	6977476	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		6977476	128029040	17	30555											
PCNXL3	399909	broad.mit.edu	37	chr11	65397113	65397113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggccctggtgactgcttcGtcctggcctctgactacctc	10	15	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:65397113G>T	ENST00000355703.3	+	26	4662	c.4123G>T	c.(4123-4125)Gtc>Ttc	p.V1375F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1375						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACTGCTTCGTCCTGGCCTC	0.617																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(4123-4125)Gtc>Ttc		pecanex-like 3 (Drosophila)							51	56	54					11																	65397113		2184	4278	6462	SO:0001583	missense	399909					integral to membrane		g.chr11:65397113G>T	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.4123G>T	11.37:g.65397113G>T	ENSP00000347931:p.Val1375Phe						p.V1375F	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			26	4662	+			1375					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4123G>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328497	0.81690	.	.	ENSG00000197136	ENST00000355703	T	0.09163	3.01	5.13	3.12	0.35913	.	0.066820	0.64402	D	0.000015	T	0.23289	0.0563	M	0.73962	2.25	0.41234	D	0.986592	D;P	0.53619	0.961;0.933	P;B	0.58820	0.846;0.349	T	0.01334	-1.1382	10	0.87932	D	0	.	5.6347	0.17530	0.3012:0.0:0.6988:0.0	.	262;1375	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	F	1375	ENSP00000347931:V1375F	ENSP00000347931:V1375F	V	+	1	0	PCNXL3	65153689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.114000	0.77103	1.418000	0.47098	0.555000	0.69702	GTC		0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	14	1	0	0.00198382	1	0.00202056	7	14					T	65397113	G	T	65397113	3	4	295	1	0	0	0	0	1	0	0	0	11593	1145	40	4	4225	4	PCNXL3	11	65397113	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	58419637	65397113	69609403	18	30556											
HTR3A	3359	broad.mit.edu	37	chr11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcaacatctctttgtggCgcttgccagaaaaggtgaaa	9	9	2	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					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)	p.R191G(1)		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)	CTCTTTGTGGCGCTTGCCAGA	0.527																																						ENST00000504030.2																			1	Substitution - Missense(1)	p.R191G(1)	central_nervous_system(1)	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						c.(571-573)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						195	205	202					11																	113856763		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856763C>T	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.571C>T	11.37:g.113856763C>T	ENSP00000424189:p.Arg191Cys					HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C	p.R191C			P46098	5HT3A_HUMAN		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)	6	1016	+		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)	191					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.571C>T		.	.	.	.	.	.	.	.	.	.	C	15.83	2.948095	0.53186	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	M	0.62209	1.925	0.80722	D	1	P;D;P	0.69078	0.928;0.997;0.928	P;P;P	0.59056	0.565;0.851;0.565	D	0.86792	0.1986	10	0.66056	D	0.02	-14.1102	13.5593	0.61779	0.1557:0.8443:0.0:0.0	.	176;197;197	B4DSY6;G5E986;Q7KZM7	.;.;.	C	191;197;197;191;176	ENSP00000424189:R191C;ENSP00000347754:R197C;ENSP00000364648:R197C;ENSP00000424776:R191C;ENSP00000299961:R176C	ENSP00000299961:R176C	R	+	1	0	HTR3A	113361973	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	2.731000	0.47343	2.457000	0.83068	0.655000	0.94253	CGC		0.527	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		13	291	0	0	0	1	0	13	291					T	113856763	C	T	113856763	3	4	295	1	0	0	0	0	1	0	0	0	7444	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	48459650	113856763	21149753	19	30557											
MON2	23041	broad.mit.edu	37	chr12	62986483	62986483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcactagttccttttaaggAtttcatgcagccaccagcat	8	11	1	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr12:62986483A>G	ENST00000393632.2	+	35	5499	c.5108A>G	c.(5107-5109)gAt>gGt	p.D1703G	MON2_ENST00000552738.1_Missense_Mutation_p.D1674G|MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393630.3_Missense_Mutation_p.D1704G	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1703					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTTTAAGGATTTCATGCAG	0.393																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(5110-5112)gAt>gGt		MON2 homolog (S. cerevisiae)							118	109	112					12																	62986483		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62986483A>G		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.5108A>G	12.37:g.62986483A>G	ENSP00000377252:p.Asp1703Gly					MON2_ENST00000393632.2_Missense_Mutation_p.D1703G|MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D1674G	p.D1704G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	36	5502	+			1704					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.5111A>G	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760000	0.69763	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000551397	T;T;T;T	0.60040	0.23;0.23;0.22;0.23	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.981;1.0	D;D;P;D	0.73708	0.948;0.977;0.795;0.981	T	0.72855	-0.4166	9	.	.	.	-18.9567	15.7423	0.77910	1.0:0.0:0.0:0.0	.	1697;1674;572;1703	B9EGP5;F8VWA6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.	G	1703;1704;666;1674;1697;77	ENSP00000377252:D1703G;ENSP00000377250:D1704G;ENSP00000449215:D1674G;ENSP00000377249:D1697G	.	D	+	2	0	MON2	61272750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.107000	0.64212	0.528000	0.53228	GAT		0.393	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		26	43	0	0	0	1	0	26	43					G	62986483	A	G	62986483	3	3	295	1	0	0	0	0	1	0	0	0	9700	333	12	3	5246	3	MON2	12	62986483	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08		62986483	70865412	20	30558											
SETD3	84193	broad.mit.edu	37	chr14	99865219	99865219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctgcactccagcctcctCctcgaggtttctcaagacca	6	17	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr14:99865219C>T	ENST00000331768.5	-	13	1741	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	528					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGCCTCCTCCTCGAGGTTT	0.532																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1582-1584)Gag>Aag		SET domain containing 3							214	192	200					14																	99865219		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865219C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1582G>A	14.37:g.99865219C>T	ENSP00000327436:p.Glu528Lys						p.E528K	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1741	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	528					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1582G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108443	0.77096	.	.	ENSG00000183576	ENST00000331768	T	0.15487	2.42	5.3	5.3	0.74995	.	0.424909	0.26662	N	0.023153	T	0.16811	0.0404	L	0.38175	1.15	0.80722	D	1	B	0.24258	0.1	B	0.15870	0.014	T	0.02901	-1.1096	10	0.34782	T	0.22	-1.4036	18.9741	0.92728	0.0:1.0:0.0:0.0	.	528	Q86TU7	SETD3_HUMAN	K	528	ENSP00000327436:E528K	ENSP00000327436:E528K	E	-	1	0	SETD3	98934972	0.994000	0.37717	0.997000	0.53966	0.955000	0.61496	3.877000	0.56123	2.490000	0.84030	0.655000	0.94253	GAG		0.532	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		69	92	0	0	0	1	0	69	92					T	99865219	C	T	99865219	3	4	295	1	0	0	0	0	1	0	0	0	14132	864	30	2	206	2	SETD3	14	99865219	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		99865219	7484321	21	30559											
ERN2	5347	broad.mit.edu	37	chr16	23703565	23703565	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgaggatgtttgcctggcGataaagactgtctccaaagg	13	7	1	2	rs373315072		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:23703565G>A	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Missense_Mutation_p.R678C|ERN2_ENST00000256797.4_Missense_Mutation_p.R778C	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTTGCCTGGCGATAAAGACTG	0.612																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2332-2334)Cgc>Tgc		endoplasmic reticulum to nucleus signaling 2		G	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	88	89	89		2332	5.7	1	16		89	0,8600		0,0,4300	no	missense	ERN2	NM_033266.3	180	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	778/975	23703565	1,12993	2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23703565G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703565G>A						ERN2_ENST00000457008.2_Missense_Mutation_p.R678C	p.R778C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	18	2500	-			730			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2332C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889997	0.72524	2.28E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82748	-0.0304	10	0.87932	D	0	.	12.2154	0.54404	0.0:0.0:0.8299:0.1701	.	678;730	E7ETG2;A5YM65	.;.	C	778;678	ENSP00000256797:R778C;ENSP00000413812:R678C	ENSP00000256797:R778C	R	-	1	0	ERN2	23611066	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.009000	0.57110	2.655000	0.90218	0.655000	0.94253	CGC		0.612	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		55	77	0	0	0	1	0	55	77					A	23703565	G	A	23703565	1	1	295	0	1	0	0	0	0	0	0	0	5238	1058	37	1		1	ERN2	16	23703565	IGR	SNP	G	TCGA-HT-8013-01A-11D-2395-08		23703565	66651188	22	30560											
OR1A2	26189	broad.mit.edu	37	chr17	3100860	3100860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggattttattctcctgggAgttactagtcagcaagaaca	9	8	2	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:3100860A>G	ENST00000381951.1	+	1	48	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					positive regulation of cytokinesis (GO:0032467)	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)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTCCTGGGAGTTACTAGTC	0.398																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(46-48)ggA>ggG		olfactory receptor, family 1, subfamily A, member 2							129	122	124					17																	3100860		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3100860A>G	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.48A>G	17.37:g.3100860A>G							p.G16G	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	48	+			16					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.48A>G	CCDS11021.1																																																																																				0.398	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		52	62	0	0	0	1	0	52	62					G	3100860	A	G	3100860	2	3	295	1	0	0	0	0	0	0	0	1	10950	291	11	3		3	OR1A2	17	3100860	Silent	SNP	A	TCGA-HT-8013-01A-11D-2395-08		3100860	78094350	23	30561											
KIAA0753	9851	broad.mit.edu	37	chr17	6526324	6526324	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cttacaccgagcaggaagtgGatgctcccctcggtcagtaa	11	12	1	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:6526324G>C	ENST00000361413.3	-	6	1340	c.982C>G	c.(982-984)Cca>Gca	p.P328A	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	328						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCAGGAAGTGGATGCTCCCCT	0.522																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(982-984)Cca>Gca		KIAA0753							73	70	71					17																	6526324		1923	4130	6053	SO:0001583	missense	9851					centrosome		g.chr17:6526324G>C		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.982C>G	17.37:g.6526324G>C	ENSP00000355250:p.Pro328Ala					KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A	p.P328A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	6	1340	-			328					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.982C>G	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.671821	0.00758	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.08546	3.08;3.08	5.7	3.53	0.40419	.	0.478331	0.22595	N	0.058027	T	0.07954	0.0199	L	0.46157	1.445	0.09310	N	0.999999	B	0.17268	0.021	B	0.15484	0.013	T	0.37384	-0.9708	10	0.06236	T	0.91	-3.665	14.6731	0.68958	0.0:0.3259:0.674:0.0	.	328	Q2KHM9	K0753_HUMAN	A	328;29	ENSP00000355250:P328A;ENSP00000444634:P29A	ENSP00000355250:P328A	P	-	1	0	KIAA0753	6467048	0.142000	0.22610	0.712000	0.30502	0.077000	0.17291	1.753000	0.38359	1.569000	0.49696	0.650000	0.86243	CCA		0.522	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		4	61	0	0	0	1	0	4	61					C	6526324	G	C	6526324	3	2	295	1	0	0	0	0	1	0	0	0	8191	1174	41	4	1977	4	KIAA0753	17	6526324	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	3425464	6526324	74668886	24	30562											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	13	0	0	0	1	0	10	13					A	7577121	G	A	7577121	3	1	295	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	1050797	7577121	73618089	25	30563											
TP53	7157	broad.mit.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	14	12	1	0	rs483352695|rs397516437		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000420246.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in 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.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	CTCCGGTTCATGCCGCCCATG	0.577		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	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	GRCh37	CM942294	TP53	M		c.(736-738)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							152	113	126					17																	7577545		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577545T>C	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.736A>G	17.37:g.7577545T>C	ENSP00000269305:p.Met246Val	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)				TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V	p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	868	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	246		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.736A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	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	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	50	0	0	0	1	0	25	50					C	7577545	T	C	7577545	3	2	295	1	0	0	0	0	1	0	0	0	16378	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	424	7577545	73617665	26	30564											
MCART2	147407	broad.mit.edu	37	chr18	29340011	29340011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatgagcactgtgagtcGttgcggtaggcagatgctcc	13	10	0	3	rs201141859		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr18:29340011G>A	ENST00000579441.2	-	1	613	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SLC25A52_ENST00000269205.5_Missense_Mutation_p.T215M			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	205					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											ACTGTGAGTCGTTGCGGTAGG	0.453																																						ENST00000269205.5																			0											c.(643-645)aCg>aTg		solute carrier family 25, member 52							82	80	81					18																	29340011		2203	4300	6503	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340011G>A		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.614C>T	18.37:g.29340011G>A	ENSP00000462754:p.Thr205Met					SLC25A52_ENST00000579441.2_Missense_Mutation_p.T205M	p.T215M	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	832	-			205						Missense_Mutation	SNP	ENST00000579441.2	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	G	6.760	0.509051	0.12883	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.78595	-1.19	1.22	-2.44	0.06502	Mitochondrial carrier domain (2);	0.739373	0.12911	N	0.428908	T	0.61788	0.2375	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.22753	0.041	T	0.48875	-0.8996	10	0.56958	D	0.05	.	2.2956	0.04149	0.3396:0.0:0.2567:0.4037	.	205	Q3SY17	MCAR2_HUMAN	M	215;205	ENSP00000372612:T215M	ENSP00000372612:T215M	T	-	2	0	MCART2	27594009	0.649000	0.27322	0.002000	0.10522	0.466000	0.32739	0.823000	0.27366	-1.163000	0.02793	-0.424000	0.05967	ACG		0.453	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		8	62	0	0	0	1	0	8	62					A	29340011	G	A	29340011	3	1	295	1	0	0	0	0	1	0	0	0	9370	1145	40	1	283	1	MCART2	18	29340011	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		29340011	48737237	27	30565											
ANKRD24	170961	broad.mit.edu	37	chr19	4202046	4202046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgccctccacctggccGccaaatacgggcacccacag	8	18	0	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:4202046G>A	ENST00000600132.1	+	6	643	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCACCTGGCCGCCAAATACGG	0.522																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(367-369)Gcc>Acc		ankyrin repeat domain 24							107	98	101					19																	4202046		1912	4127	6039	SO:0001583	missense	170961							g.chr19:4202046G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.367G>A	19.37:g.4202046G>A	ENSP00000471252:p.Ala123Thr					ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T	p.A123T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	6	643	+			123					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.367G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830746	0.71258	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Ankyrin repeat-containing domain (4);	0.000000	0.33875	N	0.004464	T	0.80341	0.4605	M	0.64260	1.97	0.36756	D	0.883041	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.946	D	0.84458	0.0592	10	0.72032	D	0.01	-19.2372	11.4128	0.49935	0.0:0.0:0.8196:0.1804	.	123;213	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	T	123;213	ENSP00000321731:A123T;ENSP00000262970:A213T	ENSP00000262970:A213T	A	+	1	0	ANKRD24	4153046	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	5.544000	0.67231	2.512000	0.84698	0.462000	0.41574	GCC		0.522	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		4	87	0	0	0	1	0	4	87					A	4202046	G	A	4202046	3	1	295	1	0	0	0	0	1	0	0	0	653	1087	38	1	385	1	ANKRD24	19	4202046	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		4202046	54926937	28	30566											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	20	6	0	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121	130	127					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		5	251	0	0	0	1	0	5	251					A	16006353	G	A	16006353	2	1	295	1	0	0	0	0	0	0	0	1	4188	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-HT-8013-01A-11D-2395-08	11804307	16006353	43122630	29	30567											
DBNDD2	55861	broad.mit.edu	37	chr20	44037441	44037441	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacttcttgatccgcagCccccataggtagtatctcat	7	15	2	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:44037441C>A	ENST00000372720.3	+	3	665	c.434C>A	c.(433-435)cCc>cAc	p.P145H	DBNDD2_ENST00000360981.4_Splice_Site_p.P47H|DBNDD2_ENST00000357275.2_Splice_Site_p.P47H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372722.3_Splice_Site_p.P47H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372717.1_Splice_Site_p.P47H|DBNDD2_ENST00000372723.3_Splice_Site_p.P47H|DBNDD2_ENST00000372712.2_Splice_Site_p.P47H|DBNDD2_ENST00000372710.3_Splice_Site_p.P149H|TP53TG5_ENST00000494455.1_5'Flank	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	145					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGATCCGCAGCCCCCATAGGT	0.517																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.e3-1		dysbindin (dystrobrevin binding protein 1) domain containing 2							53	56	55					20																	44037441		2033	4191	6224	SO:0001630	splice_region_variant	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037441C>A	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.434-1C>A	20.37:g.44037441C>A						SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Splice_Site_p.P47_splice|DBNDD2_ENST00000372722.3_Splice_Site_p.P47_splice|DBNDD2_ENST00000360981.4_Splice_Site_p.P47_splice|DBNDD2_ENST00000372723.3_Splice_Site_p.P47_splice|DBNDD2_ENST00000372717.1_Splice_Site_p.P47_splice|DBNDD2_ENST00000372720.3_Splice_Site_p.P145_splice|DBNDD2_ENST00000372710.3_Splice_Site_p.P149_splice|SYS1-DBNDD2_ENST00000452133.1_3'UTR	p.P47_splice			Q9BQY9	DBND2_HUMAN			3	721	+		Myeloproliferative disorder(115;0.0122)	145					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Splice_Site	SNP	ENST00000372720.3	37	c.139_splice	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.431327|4.431327	0.83776|0.83776	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710|ENST00000443296	T;T;T;T;T;T;T;T|T	0.32753|0.31769	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44|1.48	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.064304|0.064304	0.64402|0.64402	D|D	0.000006|0.000006	T|T	0.48589|0.48589	0.1508|0.1508	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.35674|0.35674	-0.9779|-0.9779	9|7	.|.	.|.	.|.	.|.	16.4323|16.4323	0.83853|0.83853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	47;145|.	Q5QPV4;Q9BQY9|.	.;DBND2_HUMAN|.	H|T	47;47;47;145;47;47;47;149|107	ENSP00000361808:P47H;ENSP00000361807:P47H;ENSP00000349822:P47H;ENSP00000361805:P145H;ENSP00000361802:P47H;ENSP00000354250:P47H;ENSP00000361797:P47H;ENSP00000361795:P149H|ENSP00000414161:P107T	.|.	P|P	+|+	2|1	0|0	DBNDD2|DBNDD2	43470855|43470855	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.886000|2.886000	0.48578|0.48578	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	CCC|CCC		0.517	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478	Missense_Mutation	17	21	1	0	3.45872e-05	1	3.58923e-05	17	21					A	44037441	C	A	44037441	5	1	295	1	0	0	0	0	0	0	1	0	4254	753	26	4	146	4	DBNDD2	20	44037441	Splice_Site	SNP	C	TCGA-HT-8013-01A-11D-2395-08		44037441	18988079	30	30568											
ITIH5L	347365	broad.mit.edu	37	chrX	54784549	54784549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggggagatgaccttgggcAccaaggctggctgagctgtg	18	8	0	3			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:54784549A>G	ENST00000218436.6	-	8	1987	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	653					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GACCTTGGGCACCAAGGCTGG	0.532																																						ENST00000218436.6																			0											c.(1957-1959)gTg>gCg		inter-alpha-trypsin inhibitor heavy chain family, member 6							76	60	65					X																	54784549		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784549A>G	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.1958T>C	X.37:g.54784549A>G	ENSP00000218436:p.Val653Ala						p.V653A	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1987	-			653					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1958T>C	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	A	3.358	-0.131054	0.06753	.	.	ENSG00000102313	ENST00000218436	T	0.02280	4.36	4.12	-0.657	0.11432	.	4.303020	0.01307	U	0.010484	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.45716	-0.9242	10	0.10902	T	0.67	.	5.9754	0.19375	0.5683:0.324:0.1078:0.0	.	653	Q6UXX5	ITH5L_HUMAN	A	653	ENSP00000218436:V653A	ENSP00000218436:V653A	V	-	2	0	ITIH5L	54801274	0.032000	0.19561	0.001000	0.08648	0.259000	0.26198	0.796000	0.26986	-0.057000	0.13199	0.483000	0.47432	GTG		0.532	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		6	69	0	0	0	1	0	6	69					G	54784549	A	G	54784549	3	3	295	1	0	0	0	0	1	0	0	0	7908	159	6	3	2007	3	ITIH5L	23	54784549	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08		54784549	100486011	31	30569											
ATRX	546	broad.mit.edu	37	chrX	76939235	76939235	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagaagtgttggcaggttCatattgaggttcttcttttc	10	6	4	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:76939235C>A	ENST00000373344.5	-	9	1727	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	505					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						TTGGCAGGTTCATATTGAGGT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1513-1515)Gaa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						201	203	202					X																	76939235		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939235C>A	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.1513G>T	X.37:g.76939235C>A	ENSP00000362441:p.Glu505*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*	p.E505*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1727	-			505					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1513G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	39	7.500174	0.98322	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.02	5.02	0.67125	.	0.166784	0.39687	U	0.001296	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.6407	17.6011	0.88025	0.0:1.0:0.0:0.0	.	.	.	.	X	505;467;461	.	ENSP00000362441:E505X	E	-	1	0	ATRX	76825891	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.257000	0.78362	2.085000	0.62840	0.496000	0.49642	GAA		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		112	172	1	0	1.45418e-49	1	1.53807e-49	112	172					A	76939235	C	A	76939235	4	1	295	1	0	0	0	0	0	1	0	0	1208	835	29	4	6073	4	ATRX	23	76939235	Nonsense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	22154686	76939235	78331325	32	30570											
PGK1	5230	broad.mit.edu	37	chrX	77380495	77380495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcccggggaaccaaagCtctcatggatgaggtggtga	14	8	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:77380495C>T	ENST00000373316.4	+	9	1228	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000442431.1_Missense_Mutation_p.A218V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	354					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GGAACCAAAGCTCTCATGGAT	0.493																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1060-1062)gCt>gTt		phosphoglycerate kinase 1							92	83	86					X																	77380495		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77380495C>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1061C>T	X.37:g.77380495C>T	ENSP00000362413:p.Ala354Val					PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A218V	p.A354V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			9	1228	+			354					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.1061C>T	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499574	0.44455	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92752	-3.1;-3.1;-3.1	5.24	4.32	0.51571	Phosphoglycerate kinase, C-terminal (1);	0.276333	0.40385	N	0.001112	D	0.92116	0.7501	M	0.85630	2.765	0.34108	D	0.662684	B	0.14012	0.009	B	0.06405	0.002	D	0.93827	0.7124	10	0.66056	D	0.02	-12.9981	13.847	0.63474	0.1522:0.8478:0.0:0.0	.	354	P00558	PGK1_HUMAN	V	354;218;179;326	ENSP00000362413:A354V;ENSP00000405452:A218V;ENSP00000444708:A326V	ENSP00000362413:A354V	A	+	2	0	PGK1	77267151	0.993000	0.37304	0.986000	0.45419	0.985000	0.73830	3.055000	0.49916	2.315000	0.78130	0.513000	0.50165	GCT		0.493	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			12	68	0	0	0	1	0	12	68					T	77380495	C	T	77380495	3	4	295	1	0	0	0	0	1	0	0	0	11790	797	28	2	1095	2	PGK1	23	77380495	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	441260	77380495	77890065	33	30571											
MAMLD1	10046	broad.mit.edu	37	chrX	149638129	149638129	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgtcacccttgcaaTgggcccaggtgctcatccta	10	12	2	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:149638129T>A	ENST00000370401.2	+	4	594	c.284T>A	c.(283-285)aTg>aAg	p.M95K	MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	95					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)					ACCCTTGCAATGGGCCCAGGT	0.517																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(283-285)aTg>aAg		mastermind-like domain containing 1							115	111	113					X																	149638129		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638129T>A	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.284T>A	X.37:g.149638129T>A	ENSP00000359428:p.Met95Lys					MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K	p.M95K			Q13495	MAMD1_HUMAN			4	594	+	Acute lymphoblastic leukemia(192;6.56e-05)		95					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.284T>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006818	0.35415	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.70045	0.01;-0.45;0.01;0.0	5.25	5.25	0.73442	.	0.108809	0.64402	D	0.000005	T	0.71584	0.3357	L	0.55481	1.735	0.80722	D	1	D;P;D;P	0.62365	0.991;0.744;0.978;0.744	P;B;P;B	0.53593	0.73;0.275;0.647;0.359	T	0.74447	-0.3662	10	0.59425	D	0.04	-3.9836	13.3445	0.60564	0.0:0.0:0.0:1.0	.	57;70;70;95	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	K	57;95;70;95;95;70	ENSP00000359428:M95K;ENSP00000414517:M70K;ENSP00000262858:M95K;ENSP00000397438:M70K	ENSP00000262858:M95K	M	+	2	0	MAMLD1	149388787	1.000000	0.71417	0.845000	0.33349	0.453000	0.32348	5.921000	0.70028	1.745000	0.51790	0.486000	0.48141	ATG		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		17	133	0	0	0	1	0	17	133					A	149638129	T	A	149638129	3	1	295	1	0	0	0	0	1	0	0	0	9208	1464	51	5	294	5	MAMLD1	23	149638129	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	72257634	149638129	5632431	34	30572											
IL9R	3581	broad.mit.edu	37	chrX	155234153	155234153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcatcctgacctggagcAtcagtcctgccttggagcca	10	14	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:155234153A>G	ENST00000244174.5	+	5	681	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	IL9R_ENST00000424344.3_Missense_Mutation_p.I147V|IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	168	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					GACCTGGAGCATCAGTCCTGC	0.547																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(439-441)Atc>Gtc		interleukin 9 receptor							129	109	116					X																	155234153		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155234153A>G	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.502A>G	X.37:g.155234153A>G	ENSP00000244174:p.Ile168Val					IL9R_ENST00000244174.5_Missense_Mutation_p.I168V|IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V	p.I147V			Q01113	IL9R_HUMAN			6	806	+	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)		168					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.439A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	7.599	0.672310	0.14776	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	1.44	-2.88	0.05682	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.976863	0.08410	N	0.950095	T	0.57770	0.2076	.	.	.	0.09310	N	1	B;B;P	0.46327	0.013;0.017;0.876	B;B;P	0.61800	0.01;0.008;0.894	T	0.46721	-0.9171	9	0.02654	T	1	-21.3837	3.102	0.06329	0.326:0.2624:0.4116:0.0	.	147;168;203	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	V	168;147;147;203;193	ENSP00000244174:I168V;ENSP00000388918:I147V;ENSP00000358431:I203V;ENSP00000438112:I193V	ENSP00000244174:I168V	I	+	1	0	IL9R	154887347	0.000000	0.05858	0.017000	0.16124	0.755000	0.42902	-0.779000	0.04659	-1.137000	0.02888	0.238000	0.17879	ATC		0.547	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		10	72	0	0	0	1	0	10	72					G	155234153	A	G	155234153	3	3	295	1	0	0	0	0	1	0	0	0	7708	217	8	3	520	3	IL9R	23	155234153	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08	5596024	155234153	36407	35	30573											
KIAA1383	54627	broad.mit.edu	37	chr1	232941067	232941067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacaccgcccgagacccGctggagcgcttccgcaaatc	11	17	0	2			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr1:232941067G>A	ENST00000418460.1	+	1	425	c.298G>A	c.(298-300)Gct>Act	p.A100T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CCCGAGACCCGCTGGAGCGCT	0.562																																						ENST00000418460.1																			0											c.(298-300)Gct>Act		microtubule-associated protein 10							48	52	50					1																	232941067		1949	4151	6100	SO:0001583	missense	54627							g.chr1:232941067G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.298G>A	1.37:g.232941067G>A	ENSP00000403208:p.Ala100Thr						p.A100T	NM_019090.2	NP_061963.2					1	425	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.298G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931029	0.52866	.	.	ENSG00000212916	ENST00000418460	.	.	.	1.95	-1.9	0.07665	.	.	.	.	.	T	0.33000	0.0848	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34875	-0.9811	5	0.48119	T	0.1	.	4.6413	0.12550	0.1662:0.5122:0.3217:0.0	.	.	.	.	T	100	.	ENSP00000403208:A100T	A	+	1	0	KIAA1383	231007690	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.314000	0.01125	-0.446000	0.07149	0.313000	0.20887	GCT		0.562	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		5	94	0	0	0	1	0	5	94					A	232941067	G	A	232941067	3	1	296	1	0	0	0	0	1	0	0	0	8228	1087	38	1	300	1	KIAA1383	1	232941067	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		232941067	16309554	1	30574											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			10	207						10	207	---	---	---	---	A	31939830	-	A	31939829	7	5	296	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-8015-01B-11D-A289-08		31939829	139175238	2	30575											
DAGLB	221955	broad.mit.edu	37	chr7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacgctgtccaaggcccGcatcaggatgtctggcatgt	12	13	2	0	rs138713047	byFrequency	TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19416	0.0		0.003	False		,,,				2504	0.0					ENST00000297056.6																			1	Substitution - Missense(1)	p.R646W(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1936-1938)Cgg>Tgg		diacylglycerol lipase, beta		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	118	112	114		1549,1936	-0.9	0.2	7	dbSNP_134	114	4,8596		0,4,4296	yes	missense,missense	DAGLB	NM_001142936.1,NM_139179.3	101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	517/544,646/673	6449551	4,13002	2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449551G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1936C>T	7.37:g.6449551G>A	ENSP00000297056:p.Arg646Trp					DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	p.R646W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	15	2105	-		Ovarian(82;0.232)	646					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1936C>T	CCDS5350.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	15.79	2.936977	0.52972	0.0	4.65E-4	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.37584	1.19;1.19;1.19	5.79	-0.949	0.10376	.	0.310453	0.33005	N	0.005381	T	0.56688	0.2002	M	0.73598	2.24	0.24550	N	0.994027	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;P;P;P	0.66847	0.947;0.739;0.65;0.798	T	0.61202	-0.7110	10	0.62326	D	0.03	-22.8734	17.4647	0.87629	0.0:0.0:0.6315:0.3685	.	517;460;646;343	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	W	646;517;605	ENSP00000297056:R646W;ENSP00000391171:R517W;ENSP00000404785:R605W	ENSP00000297056:R646W	R	-	1	2	DAGLB	6416076	0.141000	0.22595	0.240000	0.24138	0.416000	0.31233	1.347000	0.33975	-0.397000	0.07691	-0.271000	0.10264	CGG		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		4	117	0	0	0	1	0	4	117					A	6449551	G	A	6449551	3	1	296	1	0	0	0	0	1	0	0	0	4227	1086	38	1	86	1	DAGLB	7	6449551	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		6449551	152689112	3	30576											
SCRN1	9805	broad.mit.edu	37	chr7	29983623	29983623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcagcccagtacttccCtatggtctcgagcacccagg	10	16	1	0			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:29983623C>A	ENST00000426154.1	-	4	690	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192W|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTACTTCCCTATGGTCTCG	0.527																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(514-516)Ggg>Tgg		secernin 1							159	132	141					7																	29983623		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983623C>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.514G>T	7.37:g.29983623C>A	ENSP00000409068:p.Gly172Trp					SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W	p.G172W	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	690	-			172					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.514G>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813348	0.90707	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;2.16;-0.13;-0.13	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	W	172;172;104;172;63;192;172	ENSP00000242059:G172W;ENSP00000409068:G172W;ENSP00000414245:G104W;ENSP00000386872:G172W;ENSP00000407460:G63W;ENSP00000388942:G192W;ENSP00000413184:G172W	.	G	-	1	0	SCRN1	29950148	1.000000	0.71417	0.965000	0.40720	0.812000	0.45895	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG		0.527	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		4	111	1	0	2.56e-06	1	2.89391e-06	4	111					A	29983623	C	A	29983623	3	1	296	1	0	0	0	0	1	0	0	0	13938	681	24	4	750	4	SCRN1	7	29983623	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	23534072	29983623	129155040	4	30577											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	5	13	2	2	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112	104	107					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	59	0	0	0	1	0	5	59					T	140453136	A	T	140453136	3	4	296	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08	110469513	140453136	18685527	5	30578											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	7	0	0	0	1	0	7	7					G	41790659	T	G	41790659	2	3	296	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-HT-8015-01B-11D-A289-08		41790659	104573363	6	30579											
ARNT2	9915	broad.mit.edu	37	chr15	80845028	80845028	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaatgggatgtcggtgccCacagagttcttatcccggca	12	10	1	2			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr15:80845028C>A	ENST00000303329.4	+	10	1167	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	ARNT2_ENST00000527771.1_Silent_p.P323P|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.P323P	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	334	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			TGTCGGTGCCCACAGAGTTCT	0.498																																						ENST00000533983.1																			0				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						c.(967-969)ccC>ccA		aryl-hydrocarbon receptor nuclear translocator 2							171	142	152					15																	80845028		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845028C>A	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.1002C>A	15.37:g.80845028C>A						ARNT2_ENST00000527771.1_Silent_p.P323P|ARNT2_ENST00000303329.4_Silent_p.P334P	p.P323P			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1308	+			334			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.969C>A	CCDS32307.1																																																																																				0.498	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			4	91	1	0	0.00024832	1	0.000258253	4	91					A	80845028	C	A	80845028	2	1	296	1	0	0	0	0	0	0	0	1	966	581	21	4		4	ARNT2	15	80845028	Silent	SNP	C	TCGA-HT-8015-01B-11D-A289-08		80845028	21686364	7	30580											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagaaggtgtattggAcctgccgggaccaggcccgc	17	11	0	1			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:2983818A>C	ENST00000253928.9	+	6	1756	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	451						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1351-1353)Acc>Ccc		FLYWCH-type zinc finger 1							14	19	17					16																	2983818		1914	4090	6004	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983818A>C	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1351A>C	16.37:g.2983818A>C	ENSP00000253928:p.Thr451Pro					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P	p.T451P			Q4VC44	FWCH1_HUMAN			6	1714	+			451					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1351A>C		.	.	.	.	.	.	.	.	.	.	A	13.64	2.298727	0.40694	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.64	3.64	0.41730	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.56514	0.1990	L	0.40543	1.245	0.30391	N	0.78095	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.996;0.992;0.998	T	0.53704	-0.8401	8	0.54805	T	0.06	.	8.9563	0.35820	1.0:0.0:0.0:0.0	.	451;451;450	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	P	451;451;450	.	ENSP00000253928:T451P	T	+	1	0	FLYWCH1	2923819	0.982000	0.34865	0.998000	0.56505	0.220000	0.24768	2.685000	0.46959	1.884000	0.54569	0.379000	0.24179	ACC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		4	12	0	0	0	1	0	4	12					C	2983818	A	C	2983818	3	2	296	1	0	0	0	0	1	0	0	0	5947	275	10	5	1362	5	FLYWCH1	16	2983818	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08		2983818	87370935	8	30581											
DNAH3	55567	broad.mit.edu	37	chr16	21073899	21073899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattgtctgtaaactcaagCttggcaattccttcaaagca	7	9	3	1			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:21073899C>A	ENST00000261383.3	-	25	3623	c.3624G>T	c.(3622-3624)aaG>aaT	p.K1208N	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1208	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)		TAAACTCAAGCTTGGCAATTC	0.448																																						ENST00000261383.3																			0				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						c.(3622-3624)aaG>aaT		dynein, axonemal, heavy chain 3							136	125	129					16																	21073899		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21073899C>A	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.3624G>T	16.37:g.21073899C>A	ENSP00000261383:p.Lys1208Asn					DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N	p.K1208N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	25	3623	-			1208			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3624G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568963	0.45798	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61742	0.08;0.08	5.9	2.39	0.29439	Dynein heavy chain, domain-2 (1);	0.349593	0.28847	N	0.013949	T	0.66257	0.2771	M	0.66378	2.025	0.47441	D	0.999429	D	0.60575	0.988	P	0.58660	0.843	T	0.67126	-0.5749	10	0.56958	D	0.05	.	9.9295	0.41514	0.0:0.6198:0.0:0.3802	.	1208	Q8TD57	DYH3_HUMAN	N	1208	ENSP00000261383:K1208N;ENSP00000394245:K1208N	ENSP00000261383:K1208N	K	-	3	2	DNAH3	20981400	0.983000	0.35010	0.999000	0.59377	0.896000	0.52359	0.307000	0.19296	0.811000	0.34303	0.655000	0.94253	AAG		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	82	1	0	0.00024832	1	0.000258253	4	82					A	21073899	C	A	21073899	3	1	296	1	0	0	0	0	1	0	0	0	4603	796	28	4	8877	4	DNAH3	16	21073899	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	18090081	21073899	69280854	9	30582											
HN1	51155	broad.mit.edu	37	chr17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccaccacctggaggccGcaaaactctgcaaataatgg	10	12	1	0			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|RP11-649A18.4_ENST00000579554.1_RNA|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR|Y_RNA_ENST00000516233.1_RNA|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000476258.1_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393																																						ENST00000409753.3																		HN1/USH1G(2)	0				breast(1)	1						c.(64-66)Cgg>Tgg		hematological and neurological expressed 1							65	59	61					17																	73144759		2203	4300	6503	SO:0001583	missense	51155					nucleus		g.chr17:73144759G>A	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.64C>T	17.37:g.73144759G>A	ENSP00000387059:p.Arg22Trp					HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000476258.1_5'UTR	p.R22W	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN			2	349	-	all_lung(278;0.14)|Lung NSC(278;0.168)		22					B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	c.64C>T	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702560	0.30232	.	.	ENSG00000189159	ENST00000409753;ENST00000356033;ENST00000409135	.	.	.	4.55	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68483	0.736;0.958;0.941	T	0.77720	-0.2482	9	0.87932	D	0	-27.1706	9.6699	0.40006	0.0:0.1517:0.6916:0.1568	.	22;22;22	B8ZZT7;Q9UK76-2;Q9UK76	.;.;HN1_HUMAN	W	22	.	ENSP00000348316:R22W	R	-	1	2	HN1	70656354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.275000	0.51639	2.364000	0.80123	0.563000	0.77884	CGG		0.393	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		3	33	0	0	0	1	0	3	33					A	73144759	G	A	73144759	3	1	296	1	0	0	0	0	1	0	0	0	7249	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		73144759	8050451	10	30583											
RNF126	55658	broad.mit.edu	37	chr19	649708	649708	+	Frame_Shift_Del	DEL	C	C	-													gatggcatccaggccgttggCcccccaggcgtagtccatag							TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:649708delC	ENST00000292363.5	-	6	702	c.547delG	c.(547-549)gccfs	p.A183fs		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)		AGGCCGTTGGCCCCCCAGGCG	0.672																																						ENST00000292363.5																			0				lung(1)	1						c.(547-549)ccfs		ring finger protein 126							87	61	70					19																	649708		2194	4287	6481	SO:0001589	frameshift_variant	55658						protein binding|zinc ion binding	g.chr19:649708delC	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.547delG	19.37:g.649708delC	ENSP00000292363:p.Ala183fs						p.A183fs	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		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)	6	702	-		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)	183						Frame_Shift_Del	DEL	ENST00000292363.5	37	c.547delG	CCDS12039.1																																																																																				0.672	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		4	7						4	7	---	---	---	---	-	649708	C	-	649708	7	5	296	1	0	1	0	1	0	0	0	0	13435	739	26	0	404	0	RNF126	19	649708	Frame_Shift_Del	DEL	C	TCGA-HT-8015-01B-11D-A289-08		649708	58479275	11	30584											
LRFN3	79414	broad.mit.edu	37	chr19	36430512	36430512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctggaccgccgggcagCcgagctgcggctggcagaca	16	15	0	1			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:36430512C>A	ENST00000588831.1	+	3	1239	c.185C>A	c.(184-186)gCc>gAc	p.A62D	LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	62					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)			CGCCGGGCAGCCGAGCTGCGG	0.701																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(184-186)gCc>gAc		leucine rich repeat and fibronectin type III domain containing 3							13	15	14					19																	36430512		2136	4169	6305	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430512C>A	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.185C>A	19.37:g.36430512C>A	ENSP00000466989:p.Ala62Asp					LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D	p.A62D			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1239	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		62					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.185C>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057702	0.55325	.	.	ENSG00000126243	ENST00000246529	T	0.52526	0.66	4.62	4.62	0.57501	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.36482	N	0.002580	T	0.57651	0.2068	L	0.55017	1.72	0.40546	D	0.981071	D	0.64830	0.994	D	0.66847	0.947	T	0.55976	-0.8055	10	0.33940	T	0.23	.	9.0757	0.36519	0.0:0.8985:0.0:0.1015	.	62	Q9BTN0	LRFN3_HUMAN	D	62	ENSP00000246529:A62D	ENSP00000246529:A62D	A	+	2	0	LRFN3	41122352	0.009000	0.17119	0.981000	0.43875	0.931000	0.56810	0.142000	0.16096	2.305000	0.77605	0.557000	0.71058	GCC		0.701	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		4	64	1	0	1	1	1	4	64					A	36430512	C	A	36430512	3	1	296	1	0	0	0	0	1	0	0	0	8939	739	26	4	187	4	LRFN3	19	36430512	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	35780804	36430512	22698471	12	30585											
ERCC2	2068	broad.mit.edu	37	chr19	45855771	45855771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagctgcaccttgtcgGcaaagaccatgaggccgtag	12	12	0	3			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:45855771G>A	ENST00000391945.4	-	21	2116	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	680					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|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)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACCTTGTCGGCAAAGACCAT	0.612			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(2038-2040)gCc>gTc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							79	68	72					19																	45855771		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855771G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2039C>T	19.37:g.45855771G>A	ENSP00000375809:p.Ala680Val					ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V	p.A680V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	21	2116	-		Ovarian(192;0.0728)|all_neural(266;0.112)	680					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.2039C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044794	0.75732	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.91577	-2.87;-2.87	5.14	5.14	0.70334	Helicase, ATP-dependent, c2 type (1);	0.114408	0.64402	D	0.000018	D	0.92912	0.7745	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	0.988;0.971;1.0	P;D;D	0.97110	0.836;0.951;1.0	D	0.93169	0.6564	10	0.52906	T	0.07	-16.7895	16.0952	0.81114	0.0:0.0:1.0:0.0	.	602;680;373	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	V	630;656;680;602	ENSP00000375809:A680V;ENSP00000375808:A602V	ENSP00000375805:A630V	A	-	2	0	ERCC2	50547611	1.000000	0.71417	0.221000	0.23827	0.446000	0.32137	8.727000	0.91480	2.391000	0.81399	0.561000	0.74099	GCC		0.612	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		4	113	0	0	0	1	0	4	113					A	45855771	G	A	45855771	3	1	296	1	0	0	0	0	1	0	0	0	5213	1203	42	2	255	2	ERCC2	19	45855771	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08	9425259	45855771	13273212	13	30586											
SELENBP1	8991	broad.mit.edu	37	chr1	151338256	151338256	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcactcacctggcatttcggGcagcagccagcccttcactt	9	16	2	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:151338256G>C	ENST00000368868.5	-	8	1001	c.910C>G	c.(910-912)Ccc>Gcc	p.P304A	SELENBP1_ENST00000435071.1_Missense_Mutation_p.P240A|SELENBP1_ENST00000426705.2_Missense_Mutation_p.P346A|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P242A	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	304					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GGCATTTCGGGCAGCAGCCAG	0.577																																						ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(718-720)Ccc>Gcc		selenium binding protein 1							144	143	143					1																	151338256		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338256G>C	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.910C>G	1.37:g.151338256G>C	ENSP00000357861:p.Pro304Ala					SELENBP1_ENST00000426705.2_Missense_Mutation_p.P346A|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P242A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P304A	p.P240A			Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	1180	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		304					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.718C>G	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.726269|4.726269	0.89298|0.89298	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000424475|ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705	.|T;T;T	.|0.33654	.|1.4;1.4;1.4	5.54|5.54	5.54|5.54	0.83059|0.83059	.|WD40/YVTN repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62696|0.62696	0.2449|0.2449	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D;D	.|0.89917	.|1.0;0.999;0.996;0.997;0.952;0.991;0.997	.|D;D;D;D;P;P;D	.|0.87578	.|0.998;0.991;0.968;0.991;0.842;0.894;0.964	T|T	0.69942|0.69942	-0.5008|-0.5008	5|10	.|0.87932	.|D	.|0	-25.0333|-25.0333	18.0513|18.0513	0.89349|0.89349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|242;346;264;288;157;240;304	.|B4E1F3;A6PVW9;A6PVW8;A6PVX1;B4DPI7;Q13228-2;Q13228	.|.;.;.;.;.;.;SBP1_HUMAN	W|A	264|304;242;240;288;346	.|ENSP00000357861:P304A;ENSP00000413960:P242A;ENSP00000408263:P240A	.|ENSP00000357861:P304A	C|P	-|-	3|1	2|0	SELENBP1|SELENBP1	149604880|149604880	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.965000|0.965000	0.64279|0.64279	7.550000|7.550000	0.82173|0.82173	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	TGC|CCC		0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			11	275	0	0	0	1	0	11	275					C	151338256	G	C	151338256	3	2	297	1	0	0	0	0	1	0	0	0	14014	1203	42	4	528	4	SELENBP1	1	151338256	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		151338256	97912365	1	30587											
KCNT2	343450	broad.mit.edu	37	chr1	196274364	196274364	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgataatgtggggtcttacCttttccagttttgaaagagc	10	6	1	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:196274364C>T	ENST00000294725.9	-	22	3510	c.2595G>A	c.(2593-2595)aaG>aaA	p.K865K	KCNT2_ENST00000367431.4_Splice_Site_p.K791K|KCNT2_ENST00000367433.5_Splice_Site_p.K841K|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Splice_Site_p.K791K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e21+1		potassium channel, subfamily T, member 2							115	107	110					1																	196274364		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274364C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2595+1G>A	1.37:g.196274364C>T						KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Splice_Site_p.K865_splice|KCNT2_ENST00000367431.4_Splice_Site_p.K791_splice|KCNT2_ENST00000498426.1_5'UTR	p.K841_splice			Q6UVM3	KCNT2_HUMAN			21	2624	-			865					Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.2523_splice	CCDS1384.1																																																																																				0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Silent	3	40	0	0	0	1	0	3	40					T	196274364	C	T	196274364	5	4	297	1	0	0	0	0	0	0	1	0	8092	695	24	2	840	2	KCNT2	1	196274364	Splice_Site	SNP	C	TCGA-HT-8018-01A-11D-2395-08	44936108	196274364	52976257	2	30588											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	80	0	0	0	1	0	14	80					T	209113112	C	T	209113112	3	4	297	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		209113112	34086261	3	30589											
RBMS3	27303	broad.mit.edu	37	chr3	29323193	29323193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggcaaacgcctggatcaGccacaaatgtacccccagta	9	13	1	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:29323193G>A	ENST00000383767.2	+	1	357	c.21G>A	c.(19-21)caG>caA	p.Q7Q	RBMS3_ENST00000452462.1_Silent_p.Q7Q|RBMS3_ENST00000434693.2_Silent_p.Q7Q|RBMS3_ENST00000383766.2_Silent_p.Q7Q|RBMS3_ENST00000456853.1_Silent_p.Q7Q|RBMS3_ENST00000273139.9_Silent_p.Q7Q|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000396583.3_Silent_p.Q7Q|RBMS3_ENST00000445033.1_Silent_p.Q7Q			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	7					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTGGATCAGCCACAAATGT	0.522																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(19-21)caG>caA		RNA binding motif, single stranded interacting protein 3							168	135	146					3																	29323193		2203	4300	6503	SO:0001819	synonymous_variant	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:29323193G>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.21G>A	3.37:g.29323193G>A						RBMS3_ENST00000383767.2_Silent_p.Q7Q|RBMS3_ENST00000445033.1_Silent_p.Q7Q|RBMS3_ENST00000383766.2_Silent_p.Q7Q|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000396583.3_Silent_p.Q7Q|RBMS3_ENST00000273139.9_Silent_p.Q7Q|RBMS3_ENST00000456853.1_Silent_p.Q7Q|RBMS3_ENST00000452462.1_Silent_p.Q7Q	p.Q7Q	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN			1	721	+		Ovarian(412;0.0956)	7					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	c.21G>A	CCDS33724.1																																																																																				0.522	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		9	67	0	0	0	1	0	9	67					A	29323193	G	A	29323193	2	1	297	1	0	0	0	0	0	0	0	1	13150	962	34	2		2	RBMS3	3	29323193	Silent	SNP	G	TCGA-HT-8018-01A-11D-2395-08		29323193	168699237	4	30590											
QRICH1	54870	broad.mit.edu	37	chr3	49070172	49070172	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggagaaggccagctTcatgtgctggtccactgtct	12	11	2	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:49070172T>C	ENST00000395443.2	-	8	2402	c.1930A>G	c.(1930-1932)Aag>Gag	p.K644E	QRICH1_ENST00000424300.1_Missense_Mutation_p.K644E|QRICH1_ENST00000479449.1_5'Flank|QRICH1_ENST00000357496.2_Missense_Mutation_p.K644E	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	644						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCCAGCTTCATGTGCTGG	0.502																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1930-1932)Aag>Gag		glutamine-rich 1							118	113	115					3																	49070172		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49070172T>C		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1930A>G	3.37:g.49070172T>C	ENSP00000378830:p.Lys644Glu					QRICH1_ENST00000424300.1_Missense_Mutation_p.K644E|QRICH1_ENST00000357496.2_Missense_Mutation_p.K644E	p.K644E	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	2402	-			644					Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1930A>G	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910711	0.72983	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.5	5.5	0.81552	.	0.041428	0.85682	D	0.000000	T	0.57403	0.2051	L	0.40543	1.245	0.80722	D	1	B	0.30763	0.294	B	0.34652	0.187	T	0.57021	-0.7882	9	0.41790	T	0.15	-5.3034	15.6618	0.77193	0.0:0.0:0.0:1.0	.	644	Q2TAL8	QRIC1_HUMAN	E	644	.	ENSP00000350094:K644E	K	-	1	0	QRICH1	49045176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.106000	0.64143	0.529000	0.55759	AAG		0.502	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		22	100	0	0	0	1	0	22	100					C	49070172	T	C	49070172	3	2	297	1	0	0	0	0	1	0	0	0	12879	1792	62	3	412	3	QRICH1	3	49070172	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	19746979	49070172	148952258	5	30591											
RGS12	6002	broad.mit.edu	37	chr4	3319342	3319342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgtccggaccccgaagGgagccccccatttgaggccg	12	16	1	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr4:3319342G>A	ENST00000344733.5	+	2	2349	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	RGS12_ENST00000336727.3_Missense_Mutation_p.G482E|RGS12_ENST00000543385.1_Missense_Mutation_p.G482E|RGS12_ENST00000382788.3_Missense_Mutation_p.G482E	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	482					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCCGAAGGGAGCCCCCCA	0.677																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1444-1446)gGg>gAg		regulator of G-protein signaling 12							44	52	49					4																	3319342		2203	4299	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319342G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1445G>A	4.37:g.3319342G>A	ENSP00000339381:p.Gly482Glu					RGS12_ENST00000543385.1_Missense_Mutation_p.G482E|RGS12_ENST00000382788.3_Missense_Mutation_p.G482E|RGS12_ENST00000344733.5_Missense_Mutation_p.G482E	p.G482E	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2349	+			482					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.1445G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116931	0.08881	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.32023	1.47;1.58;1.59;1.59	4.64	2.82	0.32997	.	0.162233	0.39020	N	0.001485	T	0.24812	0.0602	L	0.38175	1.15	0.80722	D	1	B;P;B	0.46706	0.017;0.883;0.016	B;B;B	0.44224	0.003;0.444;0.017	T	0.01566	-1.1323	10	0.48119	T	0.1	-18.1494	7.6552	0.28371	0.0876:0.3339:0.5785:0.0	.	482;482;482	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	E	482	ENSP00000440566:G482E;ENSP00000339381:G482E;ENSP00000338509:G482E;ENSP00000372238:G482E	ENSP00000338509:G482E	G	+	2	0	RGS12	3289140	0.994000	0.37717	0.055000	0.19348	0.116000	0.19942	1.082000	0.30803	0.336000	0.23639	0.491000	0.48974	GGG		0.677	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		26	120	0	0	0	1	0	26	120					A	3319342	G	A	3319342	3	1	297	1	0	0	0	0	1	0	0	0	13295	1232	43	2	1447	2	RGS12	4	3319342	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		3319342	187834934	6	30592											
SLC26A8	116369	broad.mit.edu	37	chr6	35960439	35960439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagcccaaacccaataCgcccattattagctgcagag	7	12	0	2	rs150075304		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:35960439C>T	ENST00000490799.1	-	6	993	c.640G>A	c.(640-642)Gta>Ata	p.V214I	SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Missense_Mutation_p.V214I	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						AAACCCAATACGCCCATTATT	0.493																																						ENST00000490799.1																			0				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						c.(640-642)Gta>Ata		solute carrier family 26 (anion exchanger), member 8		C	ILE/VAL,ILE/VAL,	0,4406		0,0,2203	109	108	108		640,640,	-10.5	0	6	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,	214/971,214/971,	35960439	1,13005	2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35960439C>T	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.640G>A	6.37:g.35960439C>T	ENSP00000417638:p.Val214Ile					SLC26A8_ENST00000355574.2_Missense_Mutation_p.V214I|SLC26A8_ENST00000394602.2_Intron	p.V214I	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			6	993	-			214						Missense_Mutation	SNP	ENST00000490799.1	37	c.640G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553462	0.27739	0.0	1.16E-4	ENSG00000112053	ENST00000490799;ENST00000355574	D;D	0.92595	-3.07;-3.07	5.26	-10.5	0.00291	Sulphate transporter (1);	1.460270	0.04038	N	0.302685	T	0.68997	0.3062	L	0.41824	1.3	0.09310	N	1	B	0.24576	0.106	B	0.19391	0.025	T	0.63202	-0.6690	10	0.15066	T	0.55	.	7.6213	0.28187	0.2619:0.1427:0.0:0.5953	.	214	Q96RN1	S26A8_HUMAN	I	214	ENSP00000417638:V214I;ENSP00000347778:V214I	ENSP00000347778:V214I	V	-	1	0	SLC26A8	36068417	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.915000	0.00335	-2.527000	0.00494	-0.768000	0.03414	GTA		0.493	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			5	96	0	0	0	1	0	5	96					T	35960439	C	T	35960439	3	4	297	1	0	0	0	0	1	0	0	0	14523	536	19	1	2332	1	SLC26A8	6	35960439	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		35960439	135154628	7	30593											
TMEM63B	55362	broad.mit.edu	37	chr6	44118317	44118317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctggacctcttcttcCgctggctctttgataagaaa	8	13	3	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:44118317C>T	ENST00000259746.9	+	18	1807	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R542C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	542					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)			CCTCTTCTTCCGCTGGCTCTT	0.572																																						ENST00000259746.9																			0				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						c.(1624-1626)Cgc>Tgc		transmembrane protein 63B							89	79	83					6																	44118317		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44118317C>T	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.1624C>T	6.37:g.44118317C>T	ENSP00000259746:p.Arg542Cys					TMEM63B_ENST00000323267.6_Missense_Mutation_p.R542C	p.R542C			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		18	1807	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		542					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1624C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178343	0.94846	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.20200	2.09;2.09	5.0	5.0	0.66597	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55270	-0.8167	10	0.87932	D	0	.	17.4507	0.87591	0.0:1.0:0.0:0.0	.	542	Q5T3F8	TM63B_HUMAN	C	542	ENSP00000259746:R542C;ENSP00000327154:R542C	ENSP00000259746:R542C	R	+	1	0	TMEM63B	44226295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.590000	0.82653	2.597000	0.87782	0.655000	0.94253	CGC		0.572	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		17	71	0	0	0	1	0	17	71					T	44118317	C	T	44118317	3	4	297	1	0	0	0	0	1	0	0	0	16188	652	23	1	1690	1	TMEM63B	6	44118317	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	8157878	44118317	126996750	8	30594											
IFRD1	3475	broad.mit.edu	37	chr7	112112278	112112278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccattggttaggaacGggattttccaacagaaacca	8	9	1	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr7:112112278G>A	ENST00000403825.3	+	10	1307	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	IFRD1_ENST00000535603.1_Missense_Mutation_p.R299Q|IFRD1_ENST00000005558.4_Missense_Mutation_p.R349Q	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	349					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGTTAGGAACGGGATTTTCCA	0.383																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1045-1047)cGg>cAg		interferon-related developmental regulator 1							117	116	116					7																	112112278		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112278G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1046G>A	7.37:g.112112278G>A	ENSP00000384477:p.Arg349Gln					IFRD1_ENST00000005558.4_Missense_Mutation_p.R349Q|IFRD1_ENST00000535603.1_Missense_Mutation_p.R299Q	p.R349Q	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			10	1307	+			349					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.1046G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649066	0.67358	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000421296;ENST00000462155	T;T;T	0.42900	0.96;0.96;0.97	5.93	5.93	0.95920	.	0.060000	0.64402	D	0.000001	T	0.26629	0.0651	N	0.11427	0.14	0.44454	D	0.997381	B;B	0.14012	0.009;0.009	B;B	0.06405	0.002;0.002	T	0.04976	-1.0914	10	0.41790	T	0.15	-9.0037	14.4924	0.67660	0.0699:0.0:0.9301:0.0	.	349;349	A4D0U1;O00458	.;IFRD1_HUMAN	Q	349;349;84;299;84;12	ENSP00000005558:R349Q;ENSP00000384477:R349Q;ENSP00000439188:R299Q	ENSP00000005558:R349Q	R	+	2	0	IFRD1	111899514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.448000	0.73469	2.810000	0.96702	0.655000	0.94253	CGG		0.383	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		18	67	0	0	0	1	0	18	67					A	112112278	G	A	112112278	3	1	297	1	0	0	0	0	1	0	0	0	7553	1116	39	1	1084	1	IFRD1	7	112112278	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		112112278	47026385	9	30595											
NOS1	4842	broad.mit.edu	37	chr12	117724027	117724027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctagtggtgtcgatctctTtgttcacctcttccagcctt	8	12	3	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr12:117724027T>C	ENST00000338101.4	-	5	1176	c.1172A>G	c.(1171-1173)aAa>aGa	p.K391R	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.K391R			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTCGATCTCTTTGTTCACCTC	0.532																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1171-1173)aAa>aGa		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						173	168	170					12																	117724027		2135	4279	6414	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117724027T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1172A>G	12.37:g.117724027T>C	ENSP00000337459:p.Lys391Arg					NOS1_ENST00000338101.4_Missense_Mutation_p.K391R|NOS1_ENST00000344089.3_3'UTR	p.K391R	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1857	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		391						Missense_Mutation	SNP	ENST00000338101.4	37	c.1172A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333895	0.41297	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.24538	1.85;1.85	4.93	1.31	0.21738	Nitric oxide synthase, oxygenase domain (3);	0.143817	0.64402	N	0.000008	T	0.14056	0.0340	N	0.17312	0.475	0.80722	D	1	B	0.09022	0.002	B	0.15484	0.013	T	0.08289	-1.0729	10	0.40728	T	0.16	-7.5741	8.6722	0.34156	0.0:0.219:0.0:0.781	.	391	P29475	NOS1_HUMAN	R	391	ENSP00000320758:K391R;ENSP00000337459:K391R	ENSP00000320758:K391R	K	-	2	0	NOS1	116208410	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.167000	0.42415	0.070000	0.16634	0.482000	0.46254	AAA		0.532	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			3	37	0	0	0	1	0	3	37					C	117724027	T	C	117724027	3	2	297	1	0	0	0	0	1	0	0	0	10541	1841	64	3	3228	3	NOS1	12	117724027	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08		117724027	16127868	10	30596											
NLGN2	57555	broad.mit.edu	37	chr17	7318355	7318355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccgctcaagtacacgCggctgctggcagccaaggtg	13	14	1	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7318355C>T	ENST00000302926.2	+	5	998	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NLGN2_ENST00000575301.1_Missense_Mutation_p.R309W	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	309					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGTACACGCGGCTGCTGGC	0.652																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(925-927)Cgg>Tgg		neuroligin 2							38	38	38					17																	7318355		2203	4299	6502	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7318355C>T	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.925C>T	17.37:g.7318355C>T	ENSP00000305288:p.Arg309Trp					NLGN2_ENST00000575301.1_Missense_Mutation_p.R309W	p.R309W	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			5	998	+		Prostate(122;0.157)	309					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.925C>T	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607611	0.66558	.	.	ENSG00000169992	ENST00000302926	T	0.68903	-0.36	5.17	5.17	0.71159	Carboxylesterase, type B (1);	0.154288	0.45606	D	0.000352	D	0.82664	0.5086	M	0.83223	2.63	0.45015	D	0.998035	D	0.89917	1.0	D	0.74348	0.983	D	0.84901	0.0842	10	0.72032	D	0.01	.	16.2209	0.82257	0.0:1.0:0.0:0.0	.	309	Q8NFZ4	NLGN2_HUMAN	W	309	ENSP00000305288:R309W	ENSP00000305288:R309W	R	+	1	2	NLGN2	7259079	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	1.537000	0.36083	2.711000	0.92665	0.561000	0.74099	CGG		0.652	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		4	80	0	0	0	1	0	4	80					T	7318355	C	T	7318355	3	4	297	1	0	0	0	0	1	0	0	0	10462	759	27	1	943	1	NLGN2	17	7318355	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		7318355	73876855	11	30597											
TP53	7157	broad.mit.edu	37	chr17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccaggacaggcacaaAcacgcacctcaaagctgttc	7	16	2	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7577117A>C	ENST00000269305.4	-	8	1010	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_ENST00000420246.2_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000445888.2_Missense_Mutation_p.V274G	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	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(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)	ACAGGCACAAACACGCACCTC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		52	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(1)	p.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(1)	breast(8)|upper_aerodigestive_tract(6)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|stomach(1)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|pancreas(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						c.(820-822)gTt>gGt	Other conserved DNA damage response genes	tumor protein p53							70	60	64					17																	7577117		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577117A>C	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.821T>G	17.37:g.7577117A>C	ENSP00000269305:p.Val274Gly	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)				TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000269305.4_Missense_Mutation_p.V274G	p.V274G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	953	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	274		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.821T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257582	0.80246	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99802	0.9915	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.61697	0.99;0.983;0.97;0.977	D;D;D;D	0.91635	0.998;0.996;0.999;0.998	D	0.96805	0.9592	10	0.87932	D	0	-10.2267	12.5624	0.56288	1.0:0.0:0.0:0.0	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	274;274;274;274;274;263;142	ENSP00000352610:V274G;ENSP00000269305:V274G;ENSP00000398846:V274G;ENSP00000391127:V274G;ENSP00000391478:V274G;ENSP00000425104:V142G	ENSP00000269305:V274G	V	-	2	0	TP53	7517842	0.970000	0.33590	0.681000	0.30009	0.775000	0.43874	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	GTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	42	0	0	0	1	0	13	42					C	7577117	A	C	7577117	3	2	297	1	0	0	0	0	1	0	0	0	16378	43	2	5	465	5	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08	258762	7577117	73618093	12	30598											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	35	0	0	0	1	0	6	35					A	7578212	G	A	7578212	4	1	297	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	1095	7578212	73616998	13	30599											
NPHS1	4868	broad.mit.edu	37	chr19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatggtgaatccgcaggCgccccgttggtcccctggat	14	13	0	1	rs146400394		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				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)	p.R800H(1)		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)			AATCCGCAGGCGCCCCGTTGG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0					ENST00000378910.5																			1	Substitution - Missense(1)	p.R800H(1)	ovary(1)	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						c.(2398-2400)cGc>cAc		nephrosis 1, congenital, Finnish type (nephrin)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	90	92		2399	3.4	0.2	19	dbSNP_134	92	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/1242	36333388	1,13005	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333388C>T		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.2399G>A	19.37:g.36333388C>T	ENSP00000368190:p.Arg800His					NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		18	2398	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		800			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2399G>A	CCDS32996.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.629	-0.818010	0.02776	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78707	-1.2;-1.2	4.46	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340502	0.29791	N	0.011187	T	0.76912	0.4054	M	0.65498	2.005	0.09310	N	0.999992	D	0.55385	0.971	P	0.49597	0.616	T	0.65990	-0.6034	10	0.25751	T	0.34	-1.0032	8.212	0.31488	0.0:0.8912:0.0:0.1088	.	800	O60500	NPHN_HUMAN	H	800	ENSP00000368190:R800H;ENSP00000343634:R800H	ENSP00000343634:R800H	R	-	2	0	NPHS1	41025228	0.000000	0.05858	0.179000	0.23059	0.016000	0.09150	0.127000	0.15790	1.117000	0.41842	0.558000	0.71614	CGC		0.607	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			15	92	0	0	0	1	0	15	92					T	36333388	C	T	36333388	3	4	297	1	0	0	0	0	1	0	0	0	10582	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		36333388	22795595	14	30600											
PRX	57716	broad.mit.edu	37	chr19	40902431	40902431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatcgggcacggccatctCgggcaccttcgggagttgca	13	14	1	0	rs537664679		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:40902431C>T	ENST00000324001.7	-	7	2098	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	610	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGCCATCTCGGGCACCTTC	0.532																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1828-1830)Gag>Aag		periaxin							101	114	109					19																	40902431		2202	4300	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902431C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1828G>A	19.37:g.40902431C>T	ENSP00000326018:p.Glu610Lys					PRX_ENST00000291825.7_3'UTR	p.E610K	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2098	-			610			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1828G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068341	0.20067	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01871	4.59	4.77	3.73	0.42828	.	.	.	.	.	T	0.02807	0.0084	L	0.51422	1.61	0.80722	D	1	B	0.22909	0.077	B	0.13407	0.009	T	0.45920	-0.9228	9	0.48119	T	0.1	-24.5149	7.9372	0.29937	0.0:0.7494:0.164:0.0866	.	610	Q9BXM0	PRAX_HUMAN	K	610	ENSP00000326018:E610K	ENSP00000326018:E610K	E	-	1	0	PRX	45594271	.	.	0.977000	0.42913	0.067000	0.16453	.	.	1.233000	0.43693	-0.155000	0.13514	GAG		0.532	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		10	273	0	0	0	1	0	10	273					T	40902431	C	T	40902431	3	4	297	1	0	0	0	0	1	0	0	0	12642	893	31	1	2561	1	PRX	19	40902431	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	4569043	40902431	18226552	15	30601											
SHKBP1	92799	broad.mit.edu	37	chr19	41094661	41094661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcggcagatgggcatggcGgctgcagtgctggcaatgac	17	9	0	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:41094661G>A	ENST00000291842.5	+	14	1517	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G465S|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	490					protein homooligomerization (GO:0051260)			p.G490S(1)		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)			TGGGCATGGCGGCTGCAGTGC	0.617																																						ENST00000291842.5																			1	Substitution - Missense(1)	p.G490S(1)	pancreas(1)	breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1468-1470)Ggc>Agc		SH3KBP1 binding protein 1							57	55	56					19																	41094661		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41094661G>A	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.1468G>A	19.37:g.41094661G>A	ENSP00000291842:p.Gly490Ser					SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.G465S	p.G490S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	1517	+			490					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1468G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	5.363	0.252303	0.10185	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.37235	1.21	4.21	3.17	0.36434	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	N	0.02539	-0.55	0.54753	D	0.999987	P;P;D;P;D;P	0.89917	0.913;0.911;1.0;0.704;1.0;0.89	B;B;D;B;D;B	0.91635	0.436;0.369;0.999;0.142;0.999;0.119	T	0.14924	-1.0455	10	0.02654	T	1	-7.2876	11.1437	0.48417	0.0927:0.0:0.9073:0.0	.	368;270;413;327;490;490	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	S	490;270	ENSP00000291842:G490S	ENSP00000291842:G490S	G	+	1	0	SHKBP1	45786501	0.986000	0.35501	0.955000	0.39395	0.964000	0.63967	1.949000	0.40313	0.989000	0.38761	0.462000	0.41574	GGC		0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		9	63	0	0	0	1	0	9	63					A	41094661	G	A	41094661	3	1	297	1	0	0	0	0	1	0	0	0	14284	1116	39	1	1522	1	SHKBP1	19	41094661	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	192230	41094661	18034322	16	30602											
VPS16	64601	broad.mit.edu	37	chr20	2840757	2840759	+	In_Frame_Del	DEL	ATA	ATA	-													tagtgtgaggccagtgctcgAtatatactctgcttccggca							TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:2840757_2840759delATA	ENST00000380445.3	+	3	272_274	c.200_202delATA	c.(199-204)gatata>gta	p.67_68DI>V	VPS16_ENST00000380469.3_In_Frame_Del_p.67_68DI>V|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	67					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						CCAGTGCTCGATATATACTCTGC	0.591																																						ENST00000380445.3																			0				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						c.(199-204)gta>g		vacuolar protein sorting 16 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2840757_2840759delATA	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.200_202delATA	20.37:g.2840757_2840759delATA	ENSP00000369810:p.Asp67_Ile68delinsVal					VPS16_ENST00000380469.3_In_Frame_Del_p.DI67del	p.DI67del	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			3	272_274	+			67					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	In_Frame_Del	DEL	ENST00000380445.3	37	c.200_202delATA	CCDS13036.1																																																																																				0.591	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		22	88						22	88	---	---	---	---	-	2840759	ATA	-	2840757	7	5	297	1	0	1	0	1	0	0	0	0	17190	333	12	0	210	0	VPS16	20	2840757	In_Frame_Del	DEL	ATA	TCGA-HT-8018-01A-11D-2395-08		2840757	60184763	17	30603											
MYT1	4661	broad.mit.edu	37	chr20	62839768	62839768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcctgccgagcagagcCagctgggcctgggagagcca	16	15	0	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:62839768C>T	ENST00000328439.1	+	7	1583	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	MYT1_ENST00000536311.1_Nonsense_Mutation_p.Q407*|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Interaction with PIN1.				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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGCAGAGCCAGCTGGGCCT	0.672																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1219-1221)Cag>Tag		myelin transcription factor 1							21	23	22					20																	62839768		2202	4295	6497	SO:0001587	stop_gained	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839768C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1219C>T	20.37:g.62839768C>T	ENSP00000327465:p.Gln407*					MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q407*|MYT1_ENST00000360149.4_Intron	p.Q407*			Q01538	MYT1_HUMAN			7	1583	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		407					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	ENST00000328439.1	37	c.1219C>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	c	33	5.260466	0.95368	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	.	.	.	3.86	1.61	0.23674	.	0.473110	0.19762	U	0.106648	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-0.1476	6.3341	0.21287	0.5625:0.3105:0.1271:0.0	.	.	.	.	X	407	.	ENSP00000327465:Q407X	Q	+	1	0	MYT1	62310212	0.988000	0.35896	0.282000	0.24776	0.171000	0.22731	2.116000	0.41930	0.594000	0.29761	-0.509000	0.04479	CAG		0.672	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		18	45	0	0	0	1	0	18	45					T	62839768	C	T	62839768	4	4	297	1	0	0	0	0	0	1	0	0	10106	595	21	2	1237	2	MYT1	20	62839768	Nonsense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	59999011	62839768	185752	18	30604											
GGT5	2687	broad.mit.edu	37	chr22	24622165	24622165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtagtggctgagctggtggtCcccccggccatcgatctgtt	14	12	1	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:24622165C>A	ENST00000327365.4	-	8	1524	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y	GGT5_ENST00000418439.2_Missense_Mutation_p.D293Y|GGT5_ENST00000398292.3_Missense_Mutation_p.D370Y|GGT5_ENST00000263112.7_Missense_Mutation_p.D338Y	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	370					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|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(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCTGGTGGTCCCCCCGGCCA	0.697																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1108-1110)Gac>Tac		gamma-glutamyltransferase 5							29	32	31					22																	24622165		2202	4299	6501	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622165C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1108G>T	22.37:g.24622165C>A	ENSP00000330080:p.Asp370Tyr					GGT5_ENST00000398292.3_Missense_Mutation_p.D370Y|GGT5_ENST00000418439.2_Missense_Mutation_p.D293Y|GGT5_ENST00000263112.7_Missense_Mutation_p.D338Y	p.D370Y	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1524	-			370					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1108G>T	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677466	0.68042	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.51	3.24	0.37175	.	0.166220	0.53938	D	0.000052	T	0.17746	0.0426	L	0.53249	1.67	0.30633	N	0.757247	D;P;P;P;P	0.69078	0.997;0.811;0.843;0.855;0.843	D;P;P;P;P	0.72982	0.979;0.725;0.873;0.652;0.873	T	0.01945	-1.1242	10	0.66056	D	0.02	-46.4137	4.7026	0.12834	0.0:0.7168:0.0:0.2832	.	293;338;370;370;370	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	Y	370;338;285;370;293	ENSP00000330080:D370Y;ENSP00000263112:D338Y;ENSP00000381340:D370Y;ENSP00000392146:D293Y	ENSP00000263112:D338Y	D	-	1	0	GGT5	22952165	0.478000	0.25917	0.987000	0.45799	0.883000	0.51084	0.740000	0.26188	2.262000	0.75019	0.485000	0.47835	GAC		0.697	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		10	45	1	0	0.00136819	1	0.00140001	10	45					A	24622165	C	A	24622165	3	1	297	1	0	0	0	0	1	0	0	0	6362	855	30	4	675	4	GGT5	22	24622165	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		24622165	26682401	19	30605											
BPIL2	254240	broad.mit.edu	37	chr22	32833775	32833775	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtcaaggtagttctcaGtaatttctggagaactgatt	10	6	4	2	rs539918991		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:32833775G>C	ENST00000397452.1	-	8	829	c.719C>G	c.(718-720)aCt>aGt	p.T240S	BPIFC_ENST00000300399.3_Missense_Mutation_p.T240S|BPIFC_ENST00000432451.2_Missense_Mutation_p.T54S|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	240						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GTAGTTCTCAGTAATTTCTGG	0.358																																						ENST00000397452.1																			0											c.(718-720)aCt>aGt		BPI fold containing family C							108	99	102					22																	32833775		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833775G>C	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.719C>G	22.37:g.32833775G>C	ENSP00000380594:p.Thr240Ser					BPIFC_ENST00000300399.3_Missense_Mutation_p.T240S|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Missense_Mutation_p.T54S	p.T240S			Q8NFQ6	BPIL2_HUMAN			8	829	-			240					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.719C>G	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622151	0.28889	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	T;T;T	0.05319	3.46;3.46;3.46	5.68	3.43	0.39272	.	0.546700	0.20873	N	0.084127	T	0.05731	0.0150	L	0.54965	1.715	0.80722	D	1	B;B	0.32939	0.391;0.038	B;B	0.24394	0.053;0.01	T	0.21143	-1.0254	10	0.08837	T	0.75	-8.4836	10.8688	0.46870	0.0:0.0:0.6578:0.3422	.	54;240	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	S	240;240;54	ENSP00000380594:T240S;ENSP00000300399:T240S;ENSP00000408920:T54S	ENSP00000300399:T240S	T	-	2	0	BPIFC	31163775	0.986000	0.35501	0.997000	0.53966	0.995000	0.86356	1.315000	0.33608	1.511000	0.48818	0.655000	0.94253	ACT		0.358	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		8	29	0	0	0	1	0	8	29					C	32833775	G	C	32833775	3	2	297	1	0	0	0	0	1	0	0	0	1492	1029	36	4	840	4	BPIL2	22	32833775	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	8211610	32833775	18470791	20	30606											
NHS	4810	broad.mit.edu	37	chrX	17743968	17743968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaattaagtgagaggggaaGgtcacgtctgtcccgaatgg	14	7	2	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:17743968G>T	ENST00000380060.3	+	6	2017	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	NHS_ENST00000398097.3_Missense_Mutation_p.R404M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	581					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)					GAGAGGGGAAGGTCACGTCTG	0.597																																						ENST00000380060.3																			0				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						c.(1678-1680)aGg>aTg		Nance-Horan syndrome (congenital cataracts and dental anomalies)							74	61	65					X																	17743968		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743968G>T		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.1679G>T	X.37:g.17743968G>T	ENSP00000369400:p.Arg560Met					NHS_ENST00000398097.3_Missense_Mutation_p.R404M	p.R560M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2017	+	Hepatocellular(33;0.183)		560					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1679G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000391	0.54147	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.51574	0.7;0.72	5.86	5.86	0.93980	.	0.042998	0.85682	D	0.000000	T	0.69287	0.3094	M	0.68952	2.095	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.988;0.988;0.998	T	0.70761	-0.4784	10	0.66056	D	0.02	-17.5221	19.1452	0.93463	0.0:0.0:1.0:0.0	.	581;402;404;560	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	M	560;404;402	ENSP00000369400:R560M;ENSP00000381170:R404M	ENSP00000369397:R402M	R	+	2	0	NHS	17653889	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.639000	0.83342	2.471000	0.83476	0.600000	0.82982	AGG		0.597	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		5	111	1	0	0.184627	1	0.184627	5	111					T	17743968	G	T	17743968	3	4	297	1	0	0	0	0	1	0	0	0	10411	1000	35	4	1806	4	NHS	23	17743968	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		17743968	137526592	21	30607											
VSIG4	11326	broad.mit.edu	37	chrX	65253439	65253439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgctcaattggagggAtacatctcctggaaccttgt	12	9	2	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:65253439A>G	ENST00000374737.4	-	2	397	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	VSIG4_ENST00000412866.2_Missense_Mutation_p.S97P|VSIG4_ENST00000455586.2_Missense_Mutation_p.S97P	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	97	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATTGGAGGGATACATCTCCT	0.537																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(289-291)Tcc>Ccc		V-set and immunoglobulin domain containing 4							143	120	128					X																	65253439		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253439A>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.289T>C	X.37:g.65253439A>G	ENSP00000363869:p.Ser97Pro					VSIG4_ENST00000412866.2_Missense_Mutation_p.S97P|VSIG4_ENST00000374737.4_Missense_Mutation_p.S97P	p.S97P	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	415	-			97			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.289T>C	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.99|12.99	2.103046|2.103046	0.37145|0.37145	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.70282	.|-0.47;-0.47;-0.47	4.79|4.79	3.53|3.53	0.40419|0.40419	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.108992	.|0.41712	.|D	.|0.000838	T|T	0.80929|0.80929	0.4718|0.4718	M|M	0.79258|0.79258	2.445|2.445	0.31479|0.31479	N|N	0.667386|0.667386	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D	.|0.91635	.|0.993;0.987;0.999;0.958;0.992	T|T	0.80786|0.80786	-0.1227|-0.1227	5|10	.|0.87932	.|D	.|0	-16.0059|-16.0059	7.0216|7.0216	0.24916|0.24916	0.7703:0.2297:0.0:0.0|0.7703:0.2297:0.0:0.0	.|.	.|97;97;87;97;97	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	T|P	23|97	.|ENSP00000363869:S97P;ENSP00000411581:S97P;ENSP00000394143:S97P	.|ENSP00000363869:S97P	I|S	-|-	2|1	0|0	VSIG4|VSIG4	65170164|65170164	0.964000|0.964000	0.33143|0.33143	0.916000|0.916000	0.36221|0.36221	0.038000|0.038000	0.13279|0.13279	2.570000|2.570000	0.45981|0.45981	1.568000|1.568000	0.49683|0.49683	0.481000|0.481000	0.45027|0.45027	ATC|TCC		0.537	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		9	205	0	0	0	1	0	9	205					G	65253439	A	G	65253439	3	3	297	1	0	0	0	0	1	0	0	0	17222	333	12	3	942	3	VSIG4	23	65253439	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08	47509471	65253439	90017121	22	30608											
ATRX	546	broad.mit.edu	37	chrX	76931745	76931745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggatcattgtcgtcaTcatcatcatccactgtgaca	6	12	6	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:76931745T>C	ENST00000373344.5	-	10	3999	c.3785A>G	c.(3784-3786)gAt>gGt	p.D1262G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1224G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1262	Interaction with DAXX.|Poly-Asp.				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						ATTGTCGTCATCATCATCATC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3784-3786)gAt>gGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						143	115	125					X																	76931745		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76931745T>C	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.3785A>G	X.37:g.76931745T>C	ENSP00000362441:p.Asp1262Gly					ATRX_ENST00000395603.3_Missense_Mutation_p.D1224G|ATRX_ENST00000480283.1_5'UTR	p.D1262G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			10	3999	-			1262			Poly-Asp.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3785A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159545	0.38119	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92965	-3.14;-3.14	4.74	4.74	0.60224	.	0.233503	0.33813	N	0.004531	D	0.91436	0.7297	L	0.47716	1.5	0.80722	D	1	P;P;P	0.49559	0.873;0.925;0.651	B;P;B	0.49597	0.306;0.616;0.212	D	0.91729	0.5395	10	0.56958	D	0.05	-8.5264	13.6244	0.62155	0.0:0.0:0.0:1.0	.	1194;1224;1262	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	G	1262;1224;1189	ENSP00000362441:D1262G;ENSP00000378967:D1224G	ENSP00000362441:D1262G	D	-	2	0	ATRX	76818401	1.000000	0.71417	0.678000	0.29963	0.817000	0.46193	6.565000	0.73974	1.659000	0.50751	0.412000	0.27726	GAT		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	93	0	0	0	1	0	6	93					C	76931745	T	C	76931745	3	2	297	1	0	0	0	0	1	0	0	0	1208	1435	50	3	3797	3	ATRX	23	76931745	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	11678306	76931745	78338815	23	30609											
PCDH11X	27328	broad.mit.edu	37	chrX	91134295	91134295	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtatccaagtttctaacaCaactttctaactattttttt	3	8	2	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:91134295C>A	ENST00000373094.1	+	2	3878				PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T1019K|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						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						GTTTCTAACACAACTTTCTAA	0.378																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000361724.1																			0				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						c.(3055-3057)aCa>aAa		protocadherin 11 X-linked							55	50	52					X																	91134295		2203	4297	6500	SO:0001627	intron_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134295C>A	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.3033+23C>A	X.37:g.91134295C>A						PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000298274.8_Intron	p.T1019K	NM_014522.1	NP_055337.1	Q9BZA7	PC11X_HUMAN			2	3901	+			0					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3056C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545155	0.27652	.	.	ENSG00000102290	ENST00000361724	T	0.52057	0.68	4.93	-2.14	0.07123	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15983	-1.0418	7	.	.	.	.	2.0627	0.03596	0.1256:0.3472:0.2839:0.2434	.	1019	Q9BZA7-7	.	K	1019	ENSP00000355040:T1019K	.	T	+	2	0	PCDH11X	91020951	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.056000	0.11787	-0.977000	0.03537	-0.315000	0.08773	ACA		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	123	1	0	0.00116845	1	0.00122409	5	123					A	91134295	C	A	91134295	1	1	297	0	1	0	0	0	0	0	0	0	11508	478	17	4		4	PCDH11X	23	91134295	Intron	SNP	C	TCGA-HT-8018-01A-11D-2395-08	14202550	91134295	64136265	24	30610											
TBC1D8B	54885	broad.mit.edu	37	chrX	106061970	106061970	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcatcctacaccagacaCcagattctcaagtttacttg	5	13	1	2	rs143630640	byFrequency	TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:106061970C>G	ENST00000357242.5	+	2	382	c.208C>G	c.(208-210)Cca>Gca	p.P70A	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P70A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P70A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	70							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACACCAGACACCAGATTCTCA	0.363																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(208-210)Cca>Gca		TBC1 domain family, member 8B (with GRAM domain)							164	136	145					X																	106061970		2203	4299	6502	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106061970C>G	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.208C>G	X.37:g.106061970C>G	ENSP00000349781:p.Pro70Ala					TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P70A	p.P70A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			2	382	+			70					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.208C>G	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550474	0.86127	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.994	T	0.47497	-0.9113	10	0.51188	T	0.08	-12.5539	17.4823	0.87675	0.0:1.0:0.0:0.0	.	70;70;70	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	A	70	ENSP00000349781:P70A;ENSP00000310675:P70A;ENSP00000421375:P70A;ENSP00000276175:P70A	ENSP00000276175:P70A	P	+	1	0	TBC1D8B	105948626	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.677000	0.68142	2.449000	0.82847	0.600000	0.82982	CCA		0.363	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		5	120	0	0	0	1	0	5	120					G	106061970	C	G	106061970	3	3	297	1	0	0	0	0	1	0	0	0	15623	507	18	4	214	4	TBC1D8B	23	106061970	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	14927675	106061970	49208590	25	30611											
PDZD4	57595	broad.mit.edu	37	chrX	153069212	153069212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcacgggccgcttggccaCgtagcgggttccgtcgctgc	15	15	0	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:153069212C>T	ENST00000164640.4	-	8	2097	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M	PDZD4_ENST00000544474.1_Missense_Mutation_p.V527M|PDZD4_ENST00000393758.2_Missense_Mutation_p.V561M|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	636						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)					CGCTTGGCCACGTAGCGGGTT	0.701																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1906-1908)Gtg>Atg		PDZ domain containing 4							39	38	38					X																	153069212		2200	4289	6489	SO:0001583	missense	57595					cell cortex		g.chrX:153069212C>T	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.1906G>A	X.37:g.153069212C>T	ENSP00000164640:p.Val636Met					PDZD4_ENST00000393758.2_Missense_Mutation_p.V561M|PDZD4_ENST00000544474.1_Missense_Mutation_p.V527M	p.V636M	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2097	-	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)		636					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1906G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882152	0.51908	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.58060	0.36;0.36;0.36	5.67	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.65975	2.015	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.978;0.99;0.997;0.999;0.978	T	0.72337	-0.4324	10	0.87932	D	0	-44.8591	12.6855	0.56946	0.0:0.9172:0.0:0.0828	.	527;642;636;561;540	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	M	636;561;540;527	ENSP00000164640:V636M;ENSP00000377355:V561M;ENSP00000442033:V527M	ENSP00000164640:V636M	V	-	1	0	PDZD4	152722406	1.000000	0.71417	0.936000	0.37596	0.670000	0.39368	2.095000	0.41729	1.163000	0.42636	-0.297000	0.09499	GTG		0.701	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		8	150	0	0	0	1	0	8	150					T	153069212	C	T	153069212	3	4	297	1	0	0	0	0	1	0	0	0	11703	536	19	1	407	1	PDZD4	23	153069212	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	47007242	153069212	2201348	26	30612											
MICA	100507436	broad.mit.edu	37	chr6	31378387	31378387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagtcagggtttctTgctgaggtacatctggatgg	14	7	4	1	rs1063631|rs386699190	byFrequency	TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													c|||	1829	0.365216	0.4788	0.4078	5008	,	,		19543	0.3016		0.3141	False		,,,				2504	0.2996					ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(136-138)ctT>ctC		MHC class I polypeptide-related sequence A		C		573,811		132,309,251	19	21	21		138	-5.8	0	6	dbSNP_86	21	881,2301		126,629,836	no	coding-synonymous	MICA	NM_001177519.1		258,938,1087	CC,CT,TT		27.687,41.4017,31.8441		46/333	31378387	1454,3112	692	1591	2283	SO:0001819	synonymous_variant	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31378387T>C	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.138T>C	6.37:g.31378387T>C						HCP5_ENST00000414046.2_RNA	p.L46L	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			2	192	+		Ovarian(999;0.0253)	46						Silent	SNP	ENST00000449934.2	37	c.138T>C	CCDS56412.1																																																																																				0.532	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		5	39	0	0	0	1	0	5	39					C	31378387	T	C	31378387	2	2	298	1	0	0	0	0	0	0	0	1	9568	1799	63	3		3	MICA	6	31378387	Silent	SNP	T	TCGA-HT-8019-01A-21D-2395-08		31378387	139736680	1	30613											
EXOC6	54536	broad.mit.edu	37	chr10	94700482	94700482	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttgtattttAgggttatggttttccagtga	8	2	0	1			TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr10:94700482A>T	ENST00000260762.6	+	13	1226		c.e13-1		EXOC6_ENST00000443748.2_Splice_Site|EXOC6_ENST00000371552.4_Splice_Site|EXOC6_ENST00000371547.4_Splice_Site	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6						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)				TTTGTATTTTAGGGTTATGGT	0.313																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.e13-1		exocyst complex component 6							42	45	44					10																	94700482		2202	4296	6498	SO:0001630	splice_region_variant	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94700482A>T	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.1213-1A>T	10.37:g.94700482A>T						EXOC6_ENST00000443748.2_Splice_Site|EXOC6_ENST00000260762.6_Splice_Site|EXOC6_ENST00000371547.4_Splice_Site		NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			13	1226	+		Colorectal(252;0.123)						E9PHI3|Q5VXH8|Q9NZ24	Splice_Site	SNP	ENST00000260762.6	37		CCDS7424.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429008	0.83667	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EXOC6	94690462	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	9.310000	0.96267	2.326000	0.78906	0.533000	0.62120	.		0.313	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	Intron	4	26	0	0	0	1	0	4	26					T	94700482	A	T	94700482	5	4	298	1	0	0	0	0	0	0	1	0	5308	434	15	5	1351	5	EXOC6	10	94700482	Splice_Site	SNP	A	TCGA-HT-8019-01A-21D-2395-08		94700482	40834265	2	30614											
PLOD1	5351	broad.mit.edu	37	chr1	12024322	12024322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctactatgcccgttcCgaggactacgtggacattgt	12	10	0	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:12024322C>T	ENST00000196061.4	+	12	1320	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	PLOD1_ENST00000376369.3_Silent_p.S478S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	431					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	ATGCCCGTTCCGAGGACTACG	0.627																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1291-1293)tcC>tcT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						147	146	147					1																	12024322		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024322C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1293C>T	1.37:g.12024322C>T						PLOD1_ENST00000376369.3_Silent_p.S478S	p.S431S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1320	+	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)	431					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.1293C>T	CCDS142.1																																																																																				0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		8	213	0	0	0	1	0	8	213					T	12024322	C	T	12024322	2	4	299	1	0	0	0	0	0	0	0	1	12101	639	23	1		1	PLOD1	1	12024322	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08		12024322	237226299	1	30615											
ZNF683	257101	broad.mit.edu	37	chr1	26691676	26691676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgactgtgaatttctTgtcatcggtggagctggcct	12	8	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	ENST00000436292.1	-	4	481	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E|ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	121					natural killer cell differentiation (GO:0001779)|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(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(361-363)Aag>Gag		zinc finger protein 683							29	28	28					1																	26691676		2200	4298	6498	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691676T>C	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.361A>G	1.37:g.26691676T>C	ENSP00000388792:p.Lys121Glu					ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E|ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E	p.K121E			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	481	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	121					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.361A>G		.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798865	0.02841	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T	0.25912	3.27;3.27;3.21;3.21;2.43;2.44;1.77;2.11;2.13	4.87	-1.12	0.09808	.	1.288130	0.05415	N	0.543232	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32508	-0.9904	10	0.02654	T	1	-2.6909	6.0105	0.19573	0.0:0.2846:0.501:0.2144	.	121;121	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	E	121;121;121;121;129;121;71;129;121	ENSP00000384782:K121E;ENSP00000388792:K121E;ENSP00000363320:K121E;ENSP00000344095:K121E;ENSP00000411289:K129E;ENSP00000411290:K121E;ENSP00000412881:K71E;ENSP00000391584:K129E;ENSP00000401961:K121E	ENSP00000344095:K121E	K	-	1	0	ZNF683	26564263	0.001000	0.12720	0.033000	0.17914	0.002000	0.02628	-0.443000	0.06862	-0.035000	0.13691	-0.375000	0.07067	AAG		0.577	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		4	9	0	0	0	1	0	4	9					C	26691676	T	C	26691676	3	2	299	1	0	0	0	0	1	0	0	0	18087	1821	63	3	1165	3	ZNF683	1	26691676	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	14667354	26691676	222558945	2	30616											
ZNF642	339559	broad.mit.edu	37	chr1	40960602	40960602	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttctttcagacttgaagaGtaaaatagaaaccattgagt	7	5	2	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:40960602G>C	ENST00000372706.1	+	6	1458	c.452G>C	c.(451-453)aGt>aCt	p.S151T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.S151T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	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)										GACTTGAAGAGTAAAATAGAA	0.333																																						ENST00000372706.1																			0											c.(451-453)aGt>aCt		ZFP69 zinc finger protein							44	47	46					1																	40960602		2197	4295	6492	SO:0001583	missense	339559							g.chr1:40960602G>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.452G>C	1.37:g.40960602G>C	ENSP00000361791:p.Ser151Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.S151T	p.S151T							6	1458	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.452G>C	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.492390	0.00159	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04317	3.65;3.65	4.24	-0.877	0.10621	.	0.690911	0.12660	N	0.449720	T	0.02610	0.0079	N	0.25332	0.735	0.21527	N	0.999652	B	0.02656	0.0	B	0.04013	0.001	T	0.48103	-0.9064	10	0.06099	T	0.92	-2.7544	5.0722	0.14613	0.2552:0.2907:0.4541:0.0	.	151	Q49AA0	ZN642_HUMAN	T	151	ENSP00000361791:S151T;ENSP00000361790:S151T	ENSP00000361790:S151T	S	+	2	0	ZNF642	40733189	0.971000	0.33674	0.803000	0.32268	0.055000	0.15305	0.367000	0.20382	-0.129000	0.11620	0.563000	0.77884	AGT		0.333	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		3	81	0	0	0	1	0	3	81					C	40960602	G	C	40960602	3	2	299	1	0	0	0	0	1	0	0	0	18055	1029	36	4	470	4	ZNF642	1	40960602	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	14268926	40960602	208290019	3	30617											
C8A	731	broad.mit.edu	37	chr1	57378109	57378109	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtgctgcggcacacaAgcctggggcctctggaggcc	16	13	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	ENST00000361249.3	+	10	1510	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	472	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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1414-1416)Agc>Tgc		complement component 8, alpha polypeptide							47	50	49					1																	57378109		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378109A>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1414A>T	1.37:g.57378109A>T	ENSP00000354458:p.Ser472Cys						p.S472C	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			10	1510	+			472			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1414A>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773922	0.49786	.	.	ENSG00000157131	ENST00000361249	D	0.85013	-1.93	5.55	3.12	0.35913	Membrane attack complex component/perforin (MACPF) domain (3);	0.474665	0.26612	N	0.023408	T	0.81969	0.4935	L	0.38175	1.15	0.09310	N	1	D	0.55385	0.971	P	0.56474	0.799	T	0.72191	-0.4365	10	0.59425	D	0.04	-15.8693	1.7589	0.02988	0.5702:0.1404:0.1539:0.1354	.	472	P07357	CO8A_HUMAN	C	472	ENSP00000354458:S472C	ENSP00000354458:S472C	S	+	1	0	C8A	57150697	0.040000	0.19996	0.725000	0.30721	0.501000	0.33797	1.071000	0.30666	0.952000	0.37798	0.533000	0.62120	AGC		0.602	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		36	70	0	0	0	1	0	36	70					T	57378109	A	T	57378109	3	4	299	1	0	0	0	0	1	0	0	0	2416	72	3	5	1452	5	C8A	1	57378109	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	16417507	57378109	191872512	4	30618											
RPF1	80135	broad.mit.edu	37	chr1	84961976	84961976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattcaggaacttggaccaCgttttaccttaaaattaagg	8	7	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	ENST00000370654.5	+	8	946	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	311	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.|RNA-binding. {ECO:0000250}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(931-933)Cgt>Tgt		ribosome production factor 1 homolog (S. cerevisiae)							88	92	91					1																	84961976		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961976C>T	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.931C>T	1.37:g.84961976C>T	ENSP00000359688:p.Arg311Cys						p.R311C	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			8	946	+			311			Brix.|RNA-binding (By similarity).		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.931C>T	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347006	0.82022	.	.	ENSG00000117133	ENST00000370654	T	0.35236	1.32	6.07	4.14	0.48551	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77948	-0.2396	10	0.87932	D	0	-13.0208	13.6364	0.62225	0.1242:0.7567:0.1192:0.0	.	311	Q9H9Y2	RPF1_HUMAN	C	311	ENSP00000359688:R311C	ENSP00000359688:R311C	R	+	1	0	RPF1	84734564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	1.563000	0.49615	0.655000	0.94253	CGT		0.328	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		34	40	0	0	0	1	0	34	40					T	84961976	C	T	84961976	3	4	299	1	0	0	0	0	1	0	0	0	13546	536	19	1	961	1	RPF1	1	84961976	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	27583867	84961976	164288645	5	30619											
ATP1A2	477	broad.mit.edu	37	chr1	160099056	160099056	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttgtctcttctggcagCgggacacagctggtgatgcc	12	11	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	ENST00000361216.3	+	11	1416	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	ATP1A2_ENST00000392233.3_Splice_Site_p.R443W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	443					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|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)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|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)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.e11-1		ATPase, Na+/K+ transporting, alpha 2 polypeptide							153	153	153					1																	160099056		2203	4300	6503	SO:0001630	splice_region_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099056C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1327-1C>T	1.37:g.160099056C>T						ATP1A2_ENST00000392233.3_Splice_Site_p.R443_splice|ATP1A2_ENST00000472488.1_3'UTR	p.R443_splice	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		11	1416	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		443					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Splice_Site	SNP	ENST00000361216.3	37	c.1326_splice	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824677	0.71143	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.96554	-4.05;-4.05	4.66	4.66	0.58398	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054442	0.64402	D	0.000001	D	0.91280	0.7251	L	0.33293	1	0.58432	D	0.999998	P;P;P	0.46656	0.882;0.857;0.882	P;B;P	0.46237	0.508;0.374;0.508	D	0.90290	0.4322	9	.	.	.	.	10.6605	0.45700	0.3085:0.6915:0.0:0.0	.	443;343;443	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	W	443;443;146	ENSP00000354490:R443W;ENSP00000376066:R443W	.	R	+	1	2	ATP1A2	158365680	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	0.550000	0.23345	2.306000	0.77630	0.561000	0.74099	CGG		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	Missense_Mutation	84	163	0	0	0	1	0	84	163					T	160099056	C	T	160099056	5	4	299	1	0	0	0	0	0	0	1	0	1129	782	27	1	1369	1	ATP1A2	1	160099056	Splice_Site	SNP	C	TCGA-HT-8104-01A-11D-2395-08	75137080	160099056	89151565	6	30620											
FASLG	356	broad.mit.edu	37	chr1	172628551	172628551	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccactaccgctgccaccCctgaagaagagagggaacca	9	16	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	ENST00000367721.2	+	1	394	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_ENST00000340030.3_Silent_p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	70	Pro-rich.				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)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|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 neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(208-210)ccC>ccA		Fas ligand (TNF superfamily, member 6)							102	94	97					1																	172628551		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628551C>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11936	protein-coding gene	gene with protein product		134638	"tumor necrosis factor (ligand) superfamily, member 6"	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.210C>A	1.37:g.172628551C>A						FASLG_ENST00000340030.3_Silent_p.P70P	p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			1	394	+			70			Pro-rich.		Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.210C>A	CCDS1304.1																																																																																				0.617	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			9	20	1	0	3.86212e-05	1	3.98571e-05	9	20					A	172628551	C	A	172628551	2	1	299	1	0	0	0	0	0	0	0	1	5682	610	22	4		4	FASLG	1	172628551	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12529495	172628551	76622070	7	30621											
MIA3	375056	broad.mit.edu	37	chr1	222835662	222835662	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttcccctaccagggtactCgatgaaggcaaggtaaatgc	10	11	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:222835662C>T	ENST00000344922.5	+	26	5275	c.5250C>T	c.(5248-5250)ctC>ctT	p.L1750L	MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Silent_p.L628L|MIA3_ENST00000344441.6_Silent_p.L1750L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1750	Pro-rich.				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)		CCAGGGTACTCGATGAAGGCA	0.423																																						ENST00000344922.5																			0				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						c.(5248-5250)ctC>ctT		melanoma inhibitory activity family, member 3							160	155	156					1																	222835662		1895	4110	6005	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835662C>T		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.5250C>T	1.37:g.222835662C>T						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L1750L|MIA3_ENST00000340535.7_Silent_p.L628L	p.L1750L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	26	5275	+			1750			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.5250C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065809	0.08388	.	.	ENSG00000154305	ENST00000450260	.	.	.	5.77	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.45342	D	0.99833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9538	0.30029	0.1435:0.1334:0.7231:0.0	.	.	.	.	X	35	.	.	R	+	1	2	MIA3	220902285	0.985000	0.35326	0.014000	0.15608	0.028000	0.11728	1.886000	0.39688	0.459000	0.27016	-0.153000	0.13522	CGA		0.423	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		3	117	0	0	0	1	0	3	117					T	222835662	C	T	222835662	2	4	299	1	0	0	0	0	0	0	0	1	9565	871	31	1		1	MIA3	1	222835662	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	50207111	222835662	26414959	8	30622											
TRIM58	25893	broad.mit.edu	37	chr1	248039261	248039261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcttgaccgccgacctgCgcagtgtgcaggatggagaa	14	11	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248039261C>T	ENST00000366481.3	+	6	979	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R311C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGCCGACCTGCGCAGTGTGCA	0.572																																						ENST00000366481.3																			2	Substitution - Missense(2)	p.R311C(2)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(931-933)Cgc>Tgc		tripartite motif containing 58							85	79	81					1																	248039261		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039261C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.931C>T	1.37:g.248039261C>T	ENSP00000355437:p.Arg311Cys					OR2W3_ENST00000537741.1_5'UTR	p.R311C	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	979	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	311			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.931C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170489	0.38315	.	.	ENSG00000162722	ENST00000366481	T	0.13538	2.58	3.82	3.82	0.43975	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.256461	0.28187	N	0.016276	T	0.30166	0.0756	M	0.64404	1.975	0.21579	N	0.999634	D	0.89917	1.0	D	0.80764	0.994	T	0.01889	-1.1253	10	0.87932	D	0	.	9.0026	0.36092	0.2201:0.7799:0.0:0.0	.	311	Q8NG06	TRI58_HUMAN	C	311	ENSP00000355437:R311C	ENSP00000355437:R311C	R	+	1	0	TRIM58	246105884	0.019000	0.18553	0.330000	0.25442	0.375000	0.29983	1.530000	0.36007	2.443000	0.82685	0.555000	0.69702	CGC		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		3	64	0	0	0	1	0	3	64					T	248039261	C	T	248039261	3	4	299	1	0	0	0	0	1	0	0	0	16528	768	27	1	953	1	TRIM58	1	248039261	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	25203599	248039261	1211360	9	30623											
OR2G6	391211	broad.mit.edu	37	chr1	248685544	248685544	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttcaacgaggcagaactCtttgtggccagtgtagtctt	10	9	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	ENST00000343414.4	+	1	629	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(595-597)ctC>ctT		olfactory receptor, family 2, subfamily G, member 6							128	133	131					1																	248685544		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685544C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.597C>T	1.37:g.248685544C>T							p.L199L	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629	+	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)	all_cancers(173;0.0156)	199					B2RP33	Silent	SNP	ENST00000343414.4	37	c.597C>T	CCDS31119.1																																																																																				0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		29	70	0	0	0	1	0	29	70					T	248685544	C	T	248685544	2	4	299	1	0	0	0	0	0	0	0	1	11000	900	32	2		2	OR2G6	1	248685544	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	646283	248685544	565077	10	30624											
TTC27	55622	broad.mit.edu	37	chr2	32858959	32858959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcagacaacagttgatatttCtacttggtgtgagcagtttg	11	6	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	ENST00000317907.4	+	3	514	c.283C>G	c.(283-285)Cta>Gta	p.L95V	MIR4765_ENST00000585007.1_RNA	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	95										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						GTTGATATTTCTACTTGGTGT	0.368																																						ENST00000317907.4																			0				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						c.(283-285)Cta>Gta		tetratricopeptide repeat domain 27							121	120	121					2																	32858959		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32858959C>G	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.283C>G	2.37:g.32858959C>G	ENSP00000313953:p.Leu95Val						p.L95V	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			3	514	+			95					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.283C>G	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071496	0.20147	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.61158	0.13	5.59	3.79	0.43588	.	0.410543	0.22883	N	0.054496	T	0.48484	0.1502	L	0.56199	1.76	0.35846	D	0.826429	B	0.26902	0.163	B	0.26416	0.069	T	0.51060	-0.8753	10	0.15066	T	0.55	-7.5544	10.5972	0.45345	0.0:0.8425:0.0:0.1575	.	95	Q6P3X3	TTC27_HUMAN	V	45;95	ENSP00000313953:L95V	ENSP00000313953:L95V	L	+	1	2	TTC27	32712463	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	1.667000	0.37471	1.355000	0.45865	0.563000	0.77884	CTA		0.368	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		22	97	0	0	0	1	0	22	97					G	32858959	C	G	32858959	3	3	299	1	0	0	0	0	1	0	0	0	16692	912	32	4	293	4	TTC27	2	32858959	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		32858959	210340414	11	30625											
THSD7B	80731	broad.mit.edu	37	chr2	138378230	138378230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgcttggtggaatgcGtggtcaactgtcagctctca	11	11	3	0	rs370520413		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	ENST00000409968.1	+	20	3911	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1247	TSP type-1 15. {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)		GGTGGAATGCGTGGTCAACTG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1																			0				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						c.(3733-3735)Gtg>Atg		thrombospondin, type I, domain containing 7B		G	MET/VAL	7,3857		0,7,1925	196	188	191		3646	3.8	1	2		191	0,8314		0,0,4157	no	missense	THSD7B	NM_001080427.1	21	0,7,6082	AA,AG,GG		0.0,0.1812,0.0575	probably-damaging	1216/1578	138378230	7,12171	1932	4157	6089	SO:0001583	missense	80731							g.chr2:138378230G>A			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.3733G>A	2.37:g.138378230G>A	ENSP00000387145:p.Val1245Met					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M	p.V1245M						BRCA - Breast invasive adenocarcinoma(221;0.19)	20	3911	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3733G>A		.	.	.	.	.	.	.	.	.	.	G	10.68	1.419463	0.25552	0.001812	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22945	2.45;2.33;1.93	4.71	3.82	0.43975	.	0.395303	0.28436	N	0.015344	T	0.24044	0.0582	L	0.44542	1.39	0.80722	D	1	B	0.25809	0.135	B	0.17098	0.017	T	0.02958	-1.1089	10	0.59425	D	0.04	.	15.302	0.73958	0.0777:0.0:0.9223:0.0	.	1217	C9JKN6	.	M	1245;1248;1217	ENSP00000387145:V1245M;ENSP00000272643:V1248M;ENSP00000413841:V1217M	ENSP00000272643:V1248M	V	+	1	0	THSD7B	138094700	0.997000	0.39634	0.998000	0.56505	0.677000	0.39632	1.903000	0.39858	0.715000	0.32103	-0.813000	0.03139	GTG		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		59	104	0	0	0	1	0	59	104					A	138378230	G	A	138378230	3	1	299	1	0	0	0	0	1	0	0	0	15877	1145	40	1	3719	1	THSD7B	2	138378230	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	105519271	138378230	104821143	12	30626											
LRP1B	53353	broad.mit.edu	37	chr2	141072598	141072598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaataactgggccaacagtgAcacctcaaatcacctttctc	6	13	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:141072598A>C	ENST00000389484.3	-	83	13682	c.12711T>G	c.(12709-12711)tgT>tgG	p.C4237W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GCCAACAGTGACACCTCAAAT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(12709-12711)tgT>tgG		low density lipoprotein receptor-related protein 1B							154	139	144					2																	141072598		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072598A>C	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.12711T>G	2.37:g.141072598A>C	ENSP00000374135:p.Cys4237Trp	TSP Lung(27;0.18)					p.C4237W	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	83	13682	-		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)	4237			EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12711T>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.54|18.54	3.647119|3.647119	0.67358|0.67358	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.88201|.	-2.35|.	6.06|6.06	3.72|3.72	0.42706|0.42706	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.124659|.	0.56097|.	D|.	0.000035|.	T|T	0.63105|0.63105	0.2483|0.2483	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.58962|0.58962	-0.7543|-0.7543	10|5	0.66056|.	D|.	0.02|.	.|.	8.9582|8.9582	0.35832|0.35832	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	4237|.	Q9NZR2|.	LRP1B_HUMAN|.	W|G	4237;4175|469	ENSP00000374135:C4237W|.	ENSP00000374135:C4237W|.	C|V	-|-	3|2	2|0	LRP1B|LRP1B	140789068|140789068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.417000|1.417000	0.34770|0.34770	0.552000|0.552000	0.29026|0.29026	0.533000|0.533000	0.62120|0.62120	TGT|GTC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	85	0	0	0	1	0	3	85					C	141072598	A	C	141072598	3	2	299	1	0	0	0	0	1	0	0	0	8955	273	10	5	1124	5	LRP1B	2	141072598	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	2694368	141072598	102126775	13	30627											
EPC2	26122	broad.mit.edu	37	chr2	149528637	149528637	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatggaccgaatatccacAgaacatgacccagtcctgaa	7	11	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	ENST00000258484.6	+	10	1435	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	467					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1399-1401)acA>acG		enhancer of polycomb homolog 2 (Drosophila)							45	42	43					2																	149528637		1837	4105	5942	SO:0001819	synonymous_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528637A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1401A>G	2.37:g.149528637A>G							p.T467T	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1435	+			467					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.1401A>G	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		18	22	0	0	0	1	0	18	22					G	149528637	A	G	149528637	2	3	299	1	0	0	0	0	0	0	0	1	5161	175	7	3		3	EPC2	2	149528637	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	8456039	149528637	93670736	14	30628											
LRP2	4036	broad.mit.edu	37	chr2	170038807	170038807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaagaggccatccaggcGggcatccaaccagtagagct	12	12	0	2	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	ENST00000263816.3	-	51	10153	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3290					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)	p.R3290C(1)		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)"	CCATCCAGGCGGGCATCCAAC	0.502																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.R3290C(1)	prostate(1)	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						c.(9868-9870)Cgc>Tgc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	CYS/ARG	0,4406		0,0,2203	108	112	111		9868	-12.1	0	2	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3290/4656	170038807	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038807G>A		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.9868C>T	2.37:g.170038807G>A	ENSP00000263816:p.Arg3290Cys					LRP2_ENST00000461418.1_5'UTR	p.R3290C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	51	10153	-			3290					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9868C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888098	0.33348	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96365	-3.99	6.03	-12.1	0.00011	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	1.295090	0.04551	N	0.389880	D	0.88463	0.6443	L	0.36672	1.1	0.32218	N	0.575648	B	0.28900	0.227	B	0.19148	0.024	T	0.73043	-0.4107	10	0.40728	T	0.16	.	0.3943	0.00415	0.3835:0.1711:0.1592:0.2862	.	3290	P98164	LRP2_HUMAN	C	3290	ENSP00000263816:R3290C	ENSP00000263816:R3290C	R	-	1	0	LRP2	169747053	0.003000	0.15002	0.000000	0.03702	0.322000	0.28314	0.138000	0.16016	-2.310000	0.00650	-0.140000	0.14226	CGC		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		30	104	0	0	0	1	0	30	104					A	170038807	G	A	170038807	3	1	299	1	0	0	0	0	1	0	0	0	8956	1116	39	1	4215	1	LRP2	2	170038807	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	20510170	170038807	73160566	15	30629											
SF3B1	23451	broad.mit.edu	37	chr2	198267364	198267364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatctgttgtacaatcttaaTaccagtgtgtctcgcttgcc	7	10	3	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	ENST00000335508.6	-	14	2084	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	665					anterior/posterior pattern specification (GO:0009952)|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)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1993-1995)Att>Ttt		splicing factor 3b, subunit 1, 155kDa							120	119	120					2																	198267364		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267364T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1993A>T	2.37:g.198267364T>A	ENSP00000335321:p.Ile665Phe						p.I665F	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2084	-			665					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1993A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934376	0.92458	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	H	0.94847	3.59	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.88934	0.3375	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	665	O75533	SF3B1_HUMAN	F	665	ENSP00000335321:I665F	ENSP00000335321:I665F	I	-	1	0	SF3B1	197975609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	ATT		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			13	68	0	0	0	1	0	13	68					A	198267364	T	A	198267364	3	1	299	1	0	0	0	0	1	0	0	0	14149	1406	49	5	1969	5	SF3B1	2	198267364	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	28228557	198267364	44932009	16	30630											
MAP2	4133	broad.mit.edu	37	chr2	210558554	210558554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggagttggagctgcaAcatcagctgagcttgatatg	13	6	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:210558554A>G	ENST00000360351.4	+	7	2166	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	554					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)	TGGAGCTGCAACATCAGCTGA	0.368																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				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						c.(1660-1662)Aca>Gca		microtubule-associated protein 2	Estramustine(DB01196)						108	106	106					2																	210558554		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558554A>G		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.1660A>G	2.37:g.210558554A>G	ENSP00000353508:p.Thr554Ala					MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	p.T554A	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		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)	7	2166	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	554					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1660A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	0.661	-0.805700	0.02819	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.22539	1.95;1.95	6.16	-7.17	0.01511	MAP2/Tau projection (1);	0.735264	0.13023	N	0.419955	T	0.09291	0.0229	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30060	-0.9991	10	0.27785	T	0.31	0.3342	11.2713	0.49140	0.1698:0.2381:0.5921:0.0	.	550;554	P11137-3;P11137	.;MAP2_HUMAN	A	554;550	ENSP00000353508:T554A;ENSP00000392164:T550A	ENSP00000353508:T554A	T	+	1	0	MAP2	210266799	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	-1.368000	0.02580	-0.890000	0.03945	-0.256000	0.11100	ACA		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	142	0	0	0	1	0	5	142					G	210558554	A	G	210558554	3	3	299	1	0	0	0	0	1	0	0	0	9235	43	2	3	1674	3	MAP2	2	210558554	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	12291190	210558554	32640819	17	30631											
IQCA1	79781	broad.mit.edu	37	chr2	237308067	237308067	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaactgacctttgtatgcgTtacatccttccttcattgca	5	11	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	ENST00000409907.3	-	9	1473	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	400	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1198-1200)aAc>aGc		IQ motif containing with AAA domain 1							155	152	153					2																	237308067		1962	4161	6123	SO:0001583	missense	79781						ATP binding	g.chr2:237308067T>C	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1199A>G	2.37:g.237308067T>C	ENSP00000387347:p.Asn400Ser					IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S	p.N400S			Q86XH1	IQCA1_HUMAN			9	1473	-			400			Lys-rich.		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1199A>G	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.553340	0.00918	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.93366	-3.08;-3.08;-3.21	3.74	1.38	0.22167	.	0.330956	0.25827	N	0.028050	D	0.83271	0.5218	N	0.16656	0.425	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.67960	-0.5535	10	0.19147	T	0.46	.	6.6776	0.23103	0.0:0.3201:0.0:0.6799	.	359;407;400	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	S	400;407;396;359;396	ENSP00000387347:N400S;ENSP00000311951:N396S;ENSP00000407213:N359S	ENSP00000254653:N400S	N	-	2	0	IQCA1	236972806	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.101000	0.15251	0.293000	0.22520	0.533000	0.62120	AAC		0.463	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		5	109	0	0	0	1	0	5	109					C	237308067	T	C	237308067	3	2	299	1	0	0	0	0	1	0	0	0	7802	1725	60	3	1313	3	IQCA1	2	237308067	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	26749513	237308067	5891306	18	30632											
COL6A3	1293	broad.mit.edu	37	chr2	238274357	238274357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccttcacgctgtccggcGaggactgtctgaacttgttc	11	12	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	ENST00000295550.4	-	12	6274	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1941	Nonhelical region.|VWFA 10. {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)		GCTGTCCGGCGAGGACTGTCT	0.552																																						ENST00000295550.4																			0				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						c.(5821-5823)tCg>tTg		collagen, type VI, alpha 3							69	68	68					2																	238274357		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274357G>A	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.5822C>T	2.37:g.238274357G>A	ENSP00000295550:p.Ser1941Leu					COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L	p.S1941L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	12	6274	-		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)	1941			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5822C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082176	0.20309	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.06	5.06	0.68205	von Willebrand factor, type A (2);	0.185154	0.27991	N	0.017023	T	0.59702	0.2213	M	0.65975	2.015	0.22468	N	0.999073	D;D;P	0.71674	0.998;0.998;0.804	P;P;B	0.59889	0.805;0.865;0.113	T	0.55736	-0.8094	10	0.59425	D	0.04	.	17.0589	0.86541	0.0:0.0:1.0:0.0	.	1334;1735;1941	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	1941;1740;1735;1334;1735;1741	ENSP00000295550:S1941L;ENSP00000315609:S1740L;ENSP00000315873:S1735L;ENSP00000418285:S1334L;ENSP00000386844:S1735L;ENSP00000295546:S1741L	ENSP00000295550:S1941L	S	-	2	0	COL6A3	237939096	0.958000	0.32768	0.153000	0.22517	0.431000	0.31685	4.515000	0.60489	2.545000	0.85829	0.650000	0.86243	TCG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		31	52	0	0	0	1	0	31	52					A	238274357	G	A	238274357	3	1	299	1	0	0	0	0	1	0	0	0	3701	1059	37	1	3843	1	COL6A3	2	238274357	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	966290	238274357	4925016	19	30633											
HDLBP	3069	broad.mit.edu	37	chr2	242194885	242194885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgagggtgggatctcaacGgaaactccagttctctcaag	11	10	4	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:242194885G>A	ENST00000391975.1	-	8	1211	c.984C>T	c.(982-984)tcC>tcT	p.S328S	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.S328S|HDLBP_ENST00000391976.2_Silent_p.S328S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	328	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGATCTCAACGGAAACTCCAG	0.473																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(982-984)tcC>tcT		high density lipoprotein binding protein							155	143	147					2																	242194885		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242194885G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.984C>T	2.37:g.242194885G>A						HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.S328S|HDLBP_ENST00000391976.2_Silent_p.S328S	p.S328S	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	8	1211	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	328			KH 3.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.984C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	0.149	-1.093417	0.01858	.	.	ENSG00000115677	ENST00000453141	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53464	-0.8435	4	.	.	.	-26.8416	2.7833	0.05367	0.5074:0.1969:0.1136:0.1821	.	.	.	.	L	206	.	.	P	-	2	0	HDLBP	241843558	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.588000	0.00901	-4.360000	0.00054	-2.398000	0.00225	CCG		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		4	150	0	0	0	1	0	4	150					A	242194885	G	A	242194885	2	1	299	1	0	0	0	0	0	0	0	1	7025	1103	39	1		1	HDLBP	2	242194885	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	3920528	242194885	1004488	20	30634											
GRK7	131890	broad.mit.edu	37	chr3	141497220	141497220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacagcaaagagctgcagCggcggcggcgtagcctggcc	17	13	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	ENST00000264952.2	+	1	231	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	32					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						AGAGCTGCAGCGGCGGCGGCG	0.682																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(94-96)Cgg>Tgg		G protein-coupled receptor kinase 7							21	27	25					3																	141497220		2197	4296	6493	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497220C>T		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.94C>T	3.37:g.141497220C>T	ENSP00000264952:p.Arg32Trp						p.R32W	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	231	+			32						Missense_Mutation	SNP	ENST00000264952.2	37	c.94C>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224758	0.58668	.	.	ENSG00000114124	ENST00000264952	T	0.62364	0.03	4.33	1.02	0.19986	.	0.119797	0.56097	N	0.000038	T	0.52208	0.1720	L	0.29908	0.895	0.28950	N	0.890478	D	0.69078	0.997	P	0.50378	0.639	T	0.52253	-0.8600	10	0.87932	D	0	-18.6382	6.552	0.22440	0.6018:0.2948:0.0:0.1033	.	32	Q8WTQ7	GRK7_HUMAN	W	32	ENSP00000264952:R32W	ENSP00000264952:R32W	R	+	1	2	GRK7	142979910	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	1.691000	0.37721	0.278000	0.22164	-0.140000	0.14226	CGG		0.682	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		15	47	0	0	0	1	0	15	47					T	141497220	C	T	141497220	3	4	299	1	0	0	0	0	1	0	0	0	6794	759	27	1	96	1	GRK7	3	141497220	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		141497220	56525210	21	30635											
MCF2L2	23101	broad.mit.edu	37	chr3	183107495	183107495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccttacctgaaagaatgGcaaattgtctgtgaagttgt	10	8	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:183107495G>A	ENST00000328913.3	-	2	446	c.149C>T	c.(148-150)gCc>gTc	p.A50V	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	50	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAGAATGGCAAATTGTCT	0.433																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(148-150)gCc>gTc		MCF.2 cell line derived transforming sequence-like 2							127	117	120					3																	183107495		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183107495G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.149C>T	3.37:g.183107495G>A	ENSP00000328118:p.Ala50Val					MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V	p.A50V	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	446	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		50			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.149C>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462203	0.84425	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.58652	3.9;3.93;3.01;2.75;0.32	4.79	3.91	0.45181	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.073354	0.52532	D	0.000075	T	0.68888	0.3050	L	0.52573	1.65	0.42150	D	0.991558	D;D;P	0.89917	0.998;1.0;0.945	D;D;D	0.83275	0.952;0.996;0.941	T	0.71616	-0.4539	10	0.87932	D	0	.	11.8439	0.52371	0.0872:0.0:0.9128:0.0	.	50;50;50	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	V	50;50;50;50;22	ENSP00000328118:A50V;ENSP00000420070:A50V;ENSP00000388190:A50V;ENSP00000414131:A50V;ENSP00000417345:A22V	ENSP00000328118:A50V	A	-	2	0	MCF2L2	184590189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.004000	0.63966	1.129000	0.42072	0.557000	0.71058	GCC		0.433	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		3	93	0	0	0	1	0	3	93					A	183107495	G	A	183107495	3	1	299	1	0	0	0	0	1	0	0	0	9380	1203	42	2	3311	2	MCF2L2	3	183107495	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	41610275	183107495	14914935	22	30636											
KIAA0232	9778	broad.mit.edu	37	chr4	6865324	6865324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagccccagttttaaacCgaaatcaatcctctgttctg	5	12	4	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	ENST00000307659.5	+	7	3670	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1072							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						AGTTTTAAACCGAAATCAATC	0.418																																						ENST00000307659.5																			0				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						c.(3214-3216)cCg>cTg		KIAA0232							96	90	92					4																	6865324		1875	4103	5978	SO:0001583	missense	9778						ATP binding	g.chr4:6865324C>T	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.3215C>T	4.37:g.6865324C>T	ENSP00000303928:p.Pro1072Leu					KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	3670	+			1072					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3215C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083345	0.76642	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79633	-0.1722	9	0.87932	D	0	-16.4125	18.8694	0.92306	0.0:1.0:0.0:0.0	.	1072	Q92628	K0232_HUMAN	L	1072	.	ENSP00000303928:P1072L	P	+	2	0	KIAA0232	6916225	1.000000	0.71417	0.947000	0.38551	0.996000	0.88848	7.237000	0.78164	2.765000	0.95021	0.655000	0.94253	CCG		0.418	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		38	100	0	0	0	1	0	38	100					T	6865324	C	T	6865324	3	4	299	1	0	0	0	0	1	0	0	0	8163	652	23	1	3233	1	KIAA0232	4	6865324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6865324	184288952	23	30637											
GABRA4	2557	broad.mit.edu	37	chr4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgccaggcacaggaagCgcaggagggcgaaactgacc	14	12	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	ENST00000264318.3	-	1	1047	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	22					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)	GCACAGGAAGCGCAGGAGGGC	0.592																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(64-66)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						112	108	109					4																	46995377		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46995377C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.65G>A	4.37:g.46995377C>T	ENSP00000264318:p.Arg22His					GABRA4_ENST00000509316.1_5'UTR	p.R22H	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			1	1047	-			22					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.65G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541364	0.27563	.	.	ENSG00000109158	ENST00000264318	T	0.79845	-1.31	4.72	-6.48	0.01896	.	0.508381	0.21690	N	0.070586	T	0.46190	0.1380	N	0.03608	-0.345	0.20975	N	0.999818	B	0.02656	0.0	B	0.01281	0.0	T	0.50268	-0.8848	10	0.13108	T	0.6	.	4.731	0.12964	0.2317:0.2026:0.0:0.5658	.	22	P48169	GBRA4_HUMAN	H	22	ENSP00000264318:R22H	ENSP00000264318:R22H	R	-	2	0	GABRA4	46690134	1.000000	0.71417	0.070000	0.20053	0.930000	0.56654	0.689000	0.25437	-1.379000	0.02118	-0.291000	0.09656	CGC		0.592	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			51	85	0	0	0	1	0	51	85					T	46995377	C	T	46995377	3	4	299	1	0	0	0	0	1	0	0	0	6163	768	27	1	1635	1	GABRA4	4	46995377	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	40130053	46995377	144158899	24	30638											
LNX1	84708	broad.mit.edu	37	chr4	54327127	54327127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagtaattcttcctttaaGttctttcagcagtcttgcca	6	9	4	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	ENST00000263925.7	-	11	2448	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.L616F	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	712	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			CTTCCTTTAAGTTCTTTCAGC	0.343																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(1846-1848)Ctt>Ttt		ligand of numb-protein X 1, E3 ubiquitin protein ligase							109	110	110					4																	54327127		2203	4300	6503	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54327127G>A	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.2134C>T	4.37:g.54327127G>A	ENSP00000263925:p.Leu712Phe					FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.L712F	p.L616F	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		10	2097	-	all_neural(26;0.153)		712					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.1846C>T	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550299	0.65311	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.27890	1.64;1.64	4.93	3.15	0.36227	PDZ/DHR/GLGF (4);	0.070363	0.64402	D	0.000015	T	0.42494	0.1205	L	0.47190	1.495	0.52099	D	0.999944	D;D	0.67145	0.996;0.975	D;P	0.70935	0.971;0.861	T	0.26608	-1.0098	10	0.54805	T	0.06	.	8.1182	0.30955	0.0755:0.0:0.6419:0.2826	.	712;616	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	F	616;550;712	ENSP00000302879:L616F;ENSP00000263925:L712F	ENSP00000263925:L712F	L	-	1	0	LNX1	54021884	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.749000	0.62155	1.402000	0.46780	0.460000	0.39030	CTT		0.343	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			33	54	0	0	0	1	0	33	54					A	54327127	G	A	54327127	3	1	299	1	0	0	0	0	1	0	0	0	8865	1029	36	2	56	2	LNX1	4	54327127	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	7331750	54327127	136827149	25	30639											
KDR	3791	broad.mit.edu	37	chr4	55961110	55961110	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcccttgacggaatcGtgcccctttggtctataaaa	8	11	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	ENST00000263923.4	-	21	3125	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	944	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 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 MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R944R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		1	Substitution - coding silent(1)	p.R944R(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2830-2832)Cga>Tga		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						75	70	71					4																	55961110		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961110G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2830C>T	4.37:g.55961110G>A	ENSP00000263923:p.Arg944*	TSP Lung(20;0.16)					p.R944*	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3125	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		944			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.2830C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	41	8.536951	0.98854	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.87	5.87	0.94306	.	0.209202	0.41712	D	0.000834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9428	0.58354	0.0:0.0:0.7978:0.2022	.	.	.	.	X	944	.	ENSP00000263923:R944X	R	-	1	2	KDR	55655867	0.996000	0.38824	0.880000	0.34516	0.291000	0.27294	3.590000	0.53979	2.780000	0.95670	0.655000	0.94253	CGA		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			31	61	0	0	0	1	0	31	61					A	55961110	G	A	55961110	4	1	299	1	0	0	0	0	0	1	0	0	8139	1153	40	1	1280	1	KDR	4	55961110	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1633983	55961110	135193166	26	30640											
ADH1B	125	broad.mit.edu	37	chr4	100237088	100237088	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgcagacccataaccagtCgagaatccacagccaatgag	8	13	0	3	rs142861273		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:100237088C>T	ENST00000305046.8	-	5	601	c.534G>A	c.(532-534)tcG>tcA	p.S178S	ADH1B_ENST00000394887.3_Silent_p.S138S|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	178					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATAACCAGTCGAGAATCCAC	0.498																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(532-534)tcG>tcA		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)	C		0,4406		0,0,2203	125	120	122		534	-7.9	0	4	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADH1B	NM_000668.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		178/376	100237088	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237088C>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.534G>A	4.37:g.100237088C>T						ADH1B_ENST00000394887.3_Silent_p.S138S	p.S178S			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	601	-			178					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.534G>A	CCDS34033.1																																																																																				0.498	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		4	152	0	0	0	1	0	4	152					T	100237088	C	T	100237088	2	4	299	1	0	0	0	0	0	0	0	1	308	871	31	1		1	ADH1B	4	100237088	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	44275978	100237088	90917188	27	30641											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683148	33683148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttcgagtagaatgagcCgaaccacaacaatgtgaatt	8	9	1	3	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	ENST00000504830.1	-	5	1225	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						TAGAATGAGCCGAACCACAAC	0.433										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(889-891)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110	100	103		890	5.6	1	5	dbSNP_129	103	0,8600		0,0,4300	no	missense	ADAMTS12	NM_030955.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	297/1595	33683148	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683148C>T	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.890G>A	5.37:g.33683148C>T	ENSP00000422554:p.Arg297Gln	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q	p.R297Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			5	1225	-			297			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.890G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807041	0.96967	2.27E-4	0.0	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87179	-2.22;-2.22	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96075	0.9049	10	0.66056	D	0.02	.	19.5316	0.95231	0.0:1.0:0.0:0.0	rs61754760	297;297	P58397-3;P58397	.;ATS12_HUMAN	Q	297	ENSP00000422554:R297Q;ENSP00000344847:R297Q	ENSP00000344847:R297Q	R	-	2	0	ADAMTS12	33718905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.494000	0.81503	2.615000	0.88500	0.637000	0.83480	CGG		0.433	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		21	49	0	0	0	1	0	21	49					T	33683148	C	T	33683148	3	4	299	1	0	0	0	0	1	0	0	0	257	652	23	1	3974	1	ADAMTS12	5	33683148	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		33683148	147232112	28	30642											
SPEF2	79925	broad.mit.edu	37	chr5	35646854	35646854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaaacctgcatcaaatcGtactttgaaagcactcgagg	7	11	1	1	rs370674250		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	ENST00000356031.3	+	5	825	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_ENST00000440995.2_Missense_Mutation_p.R224H|SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	224					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCAAATCGTACTTTGAAA	0.333																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(670-672)cGt>cAt		sperm flagellar 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	94	92		671,671	4	1	5		92	0,8600		0,0,4300	no	missense,missense	SPEF2	NM_144722.3,NM_024867.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	224/515,224/1823	35646854	1,13005	2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35646854G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.671G>A	5.37:g.35646854G>A	ENSP00000348314:p.Arg224His					SPEF2_ENST00000356031.3_Missense_Mutation_p.R224H|SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H	p.R224H			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	671	+	all_lung(31;7.56e-05)		224					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.671G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453886	0.26161	2.27E-4	0.0	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.31247	2.29;3.25;2.29;1.5;3.25	5.76	3.97	0.46021	.	0.614429	0.16968	N	0.192217	T	0.24470	0.0593	L	0.52364	1.645	0.80722	D	1	B;B;B	0.28850	0.225;0.036;0.017	B;B;B	0.17722	0.019;0.005;0.007	T	0.05068	-1.0908	10	0.49607	T	0.09	.	6.5831	0.22607	0.2549:0.1265:0.6186:0.0	.	224;224;224	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	H	224;224;224;167;224	ENSP00000282469:R224H;ENSP00000348314:R224H;ENSP00000421593:R224H;ENSP00000426259:R167H;ENSP00000412125:R224H	ENSP00000282469:R224H	R	+	2	0	SPEF2	35682611	0.160000	0.22878	0.996000	0.52242	0.333000	0.28666	1.308000	0.33528	0.782000	0.33613	-0.140000	0.14226	CGT		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		42	81	0	0	0	1	0	42	81					A	35646854	G	A	35646854	3	1	299	1	0	0	0	0	1	0	0	0	15034	1145	40	1	689	1	SPEF2	5	35646854	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1963706	35646854	145268406	29	30643											
GZMK	3003	broad.mit.edu	37	chr5	54329739	54329739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaagcaaccttgtcccGcctcatacaaattaagttac	4	12	2	0	rs547276524	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	ENST00000231009.2	+	5	850	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	260						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P260P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408													G|||	4	0.000798722	0.0	0.0	5008	,	,		17596	0.0		0.001	False		,,,				2504	0.0031					ENST00000231009.2																			1	Substitution - coding silent(1)	p.P260P(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(778-780)ccG>ccA		granzyme K (granzyme 3; tryptase II)							92	87	89					5																	54329739		2203	4300	6503	SO:0001819	synonymous_variant	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329739G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.780G>A	5.37:g.54329739G>A						CTD-2313F11.1_ENST00000595218.1_RNA	p.P260P	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			5	850	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	260					B2R563	Silent	SNP	ENST00000231009.2	37	c.780G>A	CCDS3964.1																																																																																				0.408	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		17	47	0	0	0	1	0	17	47					A	54329739	G	A	54329739	2	1	299	1	0	0	0	0	0	0	0	1	6918	1074	38	1		1	GZMK	5	54329739	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18682885	54329739	126585521	30	30644											
GPR98	84059	broad.mit.edu	37	chr5	89954001	89954001	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtatatggaggagctcGtatttcggaagaaaatacta	10	5	1	1	rs369994629		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	ENST00000405460.2	+	21	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1553					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)		GGAGGAGCTCGTATTTCGGAA	0.348																																						ENST00000405460.2																			0				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						c.(4657-4659)cGt>cCt		G protein-coupled receptor 98							92	92	92					5																	89954001		1817	4079	5896	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89954001G>C	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.4658G>C	5.37:g.89954001G>C	ENSP00000384582:p.Arg1553Pro						p.R1553P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4754	+		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)	1553					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4658G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560548	0.65538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28895	1.59	5.86	4.94	0.65067	.	0.146153	0.64402	D	0.000008	T	0.42177	0.1191	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36261	-0.9755	10	0.72032	D	0.01	.	11.8879	0.52613	0.0903:0.0:0.9097:0.0	.	1553	Q8WXG9	GPR98_HUMAN	P	1553	ENSP00000384582:R1553P	ENSP00000296619:R1553P	R	+	2	0	GPR98	89989757	1.000000	0.71417	0.993000	0.49108	0.414000	0.31173	6.452000	0.73485	1.322000	0.45245	0.650000	0.86243	CGT		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		37	83	0	0	0	1	0	37	83					C	89954001	G	C	89954001	3	2	299	1	0	0	0	0	1	0	0	0	6721	1145	40	4	4740	4	GPR98	5	89954001	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	35624262	89954001	90961259	31	30645											
FBN2	2201	broad.mit.edu	37	chr5	127714467	127714467	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaactgccttaccaaTgcatgcttgcttggtaggag	10	9	0	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:127714467T>A	ENST00000508053.1	-	18	2694	c.1720A>T	c.(1720-1722)Att>Ttt	p.I574F	FBN2_ENST00000511489.1_5'Flank|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F|FBN2_ENST00000508989.1_Missense_Mutation_p.I541F			P35556	FBN2_HUMAN	fibrillin 2	574	EGF-like 7; 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)		GCCTTACCAATGCATGCTTGC	0.363																																						ENST00000508053.1																			0				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						c.(1720-1722)Att>Ttt		fibrillin 2							93	88	89					5																	127714467		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127714467T>A	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.1720A>T	5.37:g.127714467T>A	ENSP00000424571:p.Ile574Phe					FBN2_ENST00000508989.1_Missense_Mutation_p.I541F|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F	p.I574F			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	18	2694	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	574			EGF-like 7; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1720A>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081357	0.55753	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87966	-2.32;-2.32;-2.32	4.26	4.26	0.50523	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.92231	0.7536	M	0.79475	2.455	0.58432	D	0.999993	D;D	0.55800	0.963;0.973	P;D	0.64042	0.655;0.921	D	0.92507	0.6013	10	0.49607	T	0.09	.	14.4375	0.67293	0.0:0.0:0.0:1.0	.	541;574	D6RJI3;P35556	.;FBN2_HUMAN	F	574;574;541	ENSP00000262464:I574F;ENSP00000424571:I574F;ENSP00000425596:I541F	ENSP00000262464:I574F	I	-	1	0	FBN2	127742366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.244000	0.43124	2.145000	0.66743	0.533000	0.62120	ATT		0.363	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	139	0	0	0	1	0	4	139					A	127714467	T	A	127714467	3	1	299	1	0	0	0	0	1	0	0	0	5703	1464	51	5	7234	5	FBN2	5	127714467	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	37760466	127714467	53200793	32	30646											
FAT2	2196	broad.mit.edu	37	chr5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagataggggtcaattcGgaaatatgtgtaatcttctg	10	7	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18. {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.R2117*(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)			GGGTCAATTCGGAAATATGTG	0.428																																						ENST00000261800.5																			1	Substitution - Nonsense(1)	p.R2117*(1)	endometrium(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						c.(6349-6351)Cga>Tga		FAT atypical cadherin 2							120	125	123					5																	150924339		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924339G>A	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.6349C>T	5.37:g.150924339G>A	ENSP00000261800:p.Arg2117*						p.R2117*	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6361	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2117			Cadherin 18.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.6349C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.437382	0.99667	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.63	4.57	0.56435	.	0.234724	0.30649	N	0.009163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.3985	0.26950	0.1313:0.0:0.6995:0.1692	.	.	.	.	X	2117	.	ENSP00000261800:R2117X	R	-	1	2	FAT2	150904532	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.740000	0.26188	2.658000	0.90341	0.561000	0.74099	CGA		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		62	139	0	0	0	1	0	62	139					A	150924339	G	A	150924339	4	1	299	1	0	0	0	0	0	1	0	0	5690	1124	39	1	6760	1	FAT2	5	150924339	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	23209872	150924339	29990921	33	30647											
FAM71B	153745	broad.mit.edu	37	chr5	156590151	156590151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtaatactgcctgcaaaCgccgcactcaagctgctgtc	9	14	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						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)			TGCCTGCAAACGCCGCACTCA	0.582																																						ENST00000302938.4																			0				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						c.(1123-1125)gcG>gcA		family with sequence similarity 71, member B							41	43	42					5																	156590151		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590151C>T		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.1125G>A	5.37:g.156590151C>T							p.A375A	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1220	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	375					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1125G>A	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		21	54	0	0	0	1	0	21	54					T	156590151	C	T	156590151	2	4	299	1	0	0	0	0	0	0	0	1	5608	523	19	1		1	FAM71B	5	156590151	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	5665812	156590151	24325109	34	30648											
EBF1	1879	broad.mit.edu	37	chr5	158158158	158158158	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataatcgatggtgggttcGttgagcgctgcaataaagaa	12	7	0	2	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	ENST00000313708.6	-	11	1326	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N317N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	348					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448			T	HMGA2	lipoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		21030	0.0		0.0	False		,,,				2504	0.0					ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1042-1044)aaC>aaT		early B-cell factor 1		G		1,4405	2.1+/-5.4	0,1,2202	59	60	60		1044	-11	0.3	5	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	EBF1	NM_024007.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		348/592	158158158	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158158158G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1044C>T	5.37:g.158158158G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000380654.4_Silent_p.N317N	p.N348N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1326	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	348					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1044C>T	CCDS4343.1																																																																																				0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		10	32	0	0	0	1	0	10	32					A	158158158	G	A	158158158	2	1	299	1	0	0	0	0	0	0	0	1	4880	1136	40	1		1	EBF1	5	158158158	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1568007	158158158	22757102	35	30649											
TLX3	30012	broad.mit.edu	37	chr5	170738554	170738554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgcagaatctgcagcCctgggaggaggatagttcca	13	10	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	ENST00000296921.5	+	3	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	276					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	ENST00000296921.5				Dom	yes		5	5q35.1	30012	T	"T-cell leukemia, homeobox 3 (HOX11L2)"			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(826-828)cCc>cAc		T-cell leukemia homeobox 3							64	51	55					5																	170738554		2203	4300	6503	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170738554C>A	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.827C>A	5.37:g.170738554C>A	ENSP00000296921:p.Pro276His						p.P276H	NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	909	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	276					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.827C>A	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297041	0.81025	.	.	ENSG00000164438	ENST00000296921	D	0.95103	-3.61	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.85710	2.77	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.98331	1.0533	10	0.87932	D	0	.	16.334	0.83052	0.0:1.0:0.0:0.0	.	276	O43711	TLX3_HUMAN	H	276	ENSP00000296921:P276H	ENSP00000296921:P276H	P	+	2	0	TLX3	170671159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.350000	0.79385	1.986000	0.57962	0.491000	0.48974	CCC		0.637	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			11	15	1	0	4.3838e-07	1	4.67364e-07	11	15					A	170738554	C	A	170738554	3	1	299	1	0	0	0	0	1	0	0	0	15959	623	22	4	837	4	TLX3	5	170738554	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12580396	170738554	10176706	36	30650											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611199	62611199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcctctaatacctctGccacgaccagagtcctctga	6	17	4	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:62611199G>A	ENST00000281156.4	-	5	839	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAATACCTCTGCCACGACCAG	0.403																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(559-561)ggC>ggT		KH domain containing, RNA binding, signal transduction associated 2							114	113	113					6																	62611199		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611199G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.561C>T	6.37:g.62611199G>A							p.G187G	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	839	-			187					A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.561C>T	CCDS4963.1																																																																																				0.403	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		4	121	0	0	0	1	0	4	121					A	62611199	G	A	62611199	2	1	299	1	0	0	0	0	0	0	0	1	8147	1306	46	2		2	KHDRBS2	6	62611199	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		62611199	108503868	37	30651											
RNGTT	8732	broad.mit.edu	37	chr6	89511325	89511325	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatccatttcatggctcacTtctttggcaaaatttccttc	4	13	3	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:89511325T>G	ENST00000369485.4	-	12	1482	c.1296A>C	c.(1294-1296)gaA>gaC	p.E432D	RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000538899.1_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	432	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)		CATGGCTCACTTCTTTGGCAA	0.323																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1294-1296)gaA>gaC		RNA guanylyltransferase and 5'-phosphatase							90	81	84					6																	89511325		2202	4299	6501	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89511325T>G	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.1296A>C	6.37:g.89511325T>G	ENSP00000358497:p.Glu432Asp					RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000538899.1_Intron	p.E432D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	12	1482	-		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)	432			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.1296A>C	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266985	0.40095	.	.	ENSG00000111880	ENST00000369485;ENST00000536746;ENST00000369475	D;D	0.84370	-1.84;-1.84	5.32	5.32	0.75619	mRNA capping enzyme (1);	0.101382	0.64402	D	0.000002	T	0.65974	0.2743	N	0.24115	0.695	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.17722	0.019;0.019	T	0.64457	-0.6403	10	0.32370	T	0.25	.	14.2797	0.66202	0.0:0.0:0.0:1.0	.	432;432	Q5TCW7;O60942	.;MCE1_HUMAN	D	432;403;432	ENSP00000358497:E432D;ENSP00000358487:E432D	ENSP00000358487:E432D	E	-	3	2	RNGTT	89568044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.381000	0.66208	2.005000	0.58758	0.533000	0.62120	GAA		0.323	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			3	57	0	0	0	1	0	3	57					G	89511325	T	G	89511325	3	3	299	1	0	0	0	0	1	0	0	0	13503	1606	56	5	517	5	RNGTT	6	89511325	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	26900126	89511325	81603742	38	30652											
NMBR	4829	broad.mit.edu	37	chr6	142397176	142397176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattttagccaggcgtttcCgtgtttccatctgcaaatat	7	10	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	ENST00000258042.1	-	3	922	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	261					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(781-783)cGg>cAg		neuromedin B receptor							62	53	56					6																	142397176		2203	4299	6502	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397176C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.782G>A	6.37:g.142397176C>T	ENSP00000258042:p.Arg261Gln						p.R261Q	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	922	-	Breast(32;0.155)		261					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.782G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608004	0.87258	.	.	ENSG00000135577	ENST00000258042	T	0.72394	-0.65	5.3	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.049561	0.85682	D	0.000000	T	0.81569	0.4850	M	0.89353	3.025	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.84903	0.0843	10	0.87932	D	0	-13.1294	12.3253	0.55007	0.0:0.8609:0.0:0.1391	.	261	P28336	NMBR_HUMAN	Q	261	ENSP00000258042:R261Q	ENSP00000258042:R261Q	R	-	2	0	NMBR	142438869	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.735000	0.68587	0.730000	0.32425	0.655000	0.94253	CGG		0.378	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			24	50	0	0	0	1	0	24	50					T	142397176	C	T	142397176	3	4	299	1	0	0	0	0	1	0	0	0	10487	652	23	1	394	1	NMBR	6	142397176	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	52885851	142397176	28717891	39	30653											
EGFR	1956	broad.mit.edu	37	chr7	55241722	55241722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggctccggtgcgttcGgcacggtgtataaggtaagg	17	8	0	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55241722G>A	ENST00000275493.2	+	18	2347	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	EGFR_ENST00000454757.2_Missense_Mutation_p.G671S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G679S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> S (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		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)	p.G724S(3)		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)	CGGTGCGTTCGGCACGGTGTA	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.G724S(3)	lung(2)|large_intestine(1)	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						c.(2170-2172)Ggc>Agc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53	55	54					7																	55241722		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241722G>A		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.2170G>A	7.37:g.55241722G>A	ENSP00000275493:p.Gly724Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Missense_Mutation_p.G679S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G671S	p.G724S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		18	2347	+	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)		724		G -> S (found in a lung cancer sample).	Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2170G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835979	0.71373	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78246	-1.16;-1.16;-1.16	5.5	5.5	0.81552	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	0.89536	0.6743	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90913	0.4777	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	679;724	Q504U8;P00533	.;EGFR_HUMAN	S	679;594;724;671	ENSP00000415559:G679S;ENSP00000275493:G724S;ENSP00000395243:G671S	ENSP00000275493:G724S	G	+	1	0	EGFR	55209216	1.000000	0.71417	0.919000	0.36401	0.007000	0.05969	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		123	1881	0	0	0	1	0	123	1881					A	55241722	G	A	55241722	3	1	299	1	0	0	0	0	1	0	0	0	4967	1116	39	1	2504	1	EGFR	7	55241722	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55241722	103896941	40	30654											
EGFR	1956	broad.mit.edu	37	chr7	55260473	55260473	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaaggtgcctatcaagtgGatggcattggaatcaatttt	10	8	2	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55260473G>A	ENST00000275493.2	+	22	2817	c.2640G>A	c.(2638-2640)tgG>tgA	p.W880*	EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	880	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)	CTATCAAGTGGATGGCATTGG	0.433		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(2638-2640)tgG>tgA		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						122	108	113					7																	55260473		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55260473G>A		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.2640G>A	7.37:g.55260473G>A	ENSP00000275493:p.Trp880*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*	p.W880*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		22	2817	+	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)		880			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.2640G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	40	8.489075	0.98834	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3896	0.90478	0.0:0.0:1.0:0.0	.	.	.	.	X	835;750;880;827	.	ENSP00000275493:W880X	W	+	3	0	EGFR	55227967	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	9.712000	0.98738	2.680000	0.91292	0.561000	0.74099	TGG		0.433	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		44	1857	0	0	0	1	0	44	1857					A	55260473	G	A	55260473	4	1	299	1	0	0	0	0	0	1	0	0	4967	1183	41	2	2990	2	EGFR	7	55260473	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18751	55260473	103878190	41	30655											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138713589	138713589	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatgggaccgtttgcAggtctgaagtttgcattctc	12	8	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:138713589A>T	ENST00000275766.1	-	3	630	c.619T>A	c.(619-621)Tgc>Agc	p.C207S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	207										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GACCGTTTGCAGGTCTGAAGT	0.433																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(619-621)Tgc>Agc		zinc finger CCCH-type, antiviral 1-like							109	100	103					7																	138713589		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138713589A>T	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 39"	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.619T>A	7.37:g.138713589A>T	ENSP00000275766:p.Cys207Ser						p.C207S	NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			3	630	-			207					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.619T>A	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277335	0.80580	.	.	ENSG00000146858	ENST00000275766	T	0.47177	0.85	5.62	5.62	0.85841	.	0.114632	0.40302	N	0.001139	T	0.52725	0.1752	L	0.29908	0.895	0.40939	D	0.984452	D	0.69078	0.997	P	0.58928	0.848	T	0.58216	-0.7675	10	0.87932	D	0	.	14.0747	0.64882	1.0:0.0:0.0:0.0	.	207	Q96H79	ZCCHL_HUMAN	S	207	ENSP00000275766:C207S	ENSP00000275766:C207S	C	-	1	0	ZC3HAV1L	138364129	1.000000	0.71417	0.862000	0.33874	0.880000	0.50808	5.554000	0.67294	2.271000	0.75665	0.528000	0.53228	TGC		0.433	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		3	87	0	0	0	1	0	3	87					T	138713589	A	T	138713589	3	4	299	1	0	0	0	0	1	0	0	0	17573	188	7	5	295	5	ZC3HAV1L	7	138713589	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	83453116	138713589	20425074	42	30656											
RP1	6101	broad.mit.edu	37	chr8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaatggcgacccgaagaCgaggcgtgcggttcttctga	15	10	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)	p.T166M(1)		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)			GACCCGAAGACGAGGCGTGCG	0.642																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.T166M(1)	lung(1)	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						c.(496-498)aCg>aTg		retinitis pigmentosa 1 (autosomal dominant)							83	85	84					8																	55534023		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534023C>T	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.497C>T	8.37:g.55534023C>T	ENSP00000220676:p.Thr166Met						p.T166M	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	645	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	166			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.497C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709586	0.30322	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	5.14	1.26	0.21427	Doublecortin domain (4);	0.635417	0.14570	N	0.311486	T	0.72930	0.3522	L	0.38175	1.15	0.09310	N	1	P	0.47604	0.898	B	0.30029	0.11	T	0.65496	-0.6154	10	0.62326	D	0.03	6.4508	4.3984	0.11374	0.1478:0.4103:0.0:0.4419	.	166	P56715	RP1_HUMAN	M	166	ENSP00000220676:T166M	ENSP00000220676:T166M	T	+	2	0	RP1	55696576	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.050000	0.13356	0.650000	0.86243	ACG		0.642	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		48	98	0	0	0	1	0	48	98					T	55534023	C	T	55534023	3	4	299	1	0	0	0	0	1	0	0	0	13532	536	19	1	499	1	RP1	8	55534023	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		55534023	90829999	43	30657											
CA13	377677	broad.mit.edu	37	chr8	86180769	86180769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgggactactggacAtatcctggttctcttacagt	8	12	1	0	rs143754749		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:86180769A>G	ENST00000321764.3	+	6	884	c.582A>G	c.(580-582)acA>acG	p.T194T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	194					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	ACTACTGGACATATCCTGGTT	0.403																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(580-582)acA>acG		carbonic anhydrase XIII		A		0,4406		0,0,2203	179	163	168		582	-4.6	1	8	dbSNP_134	168	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CA13	NM_198584.2		0,2,6501	GG,GA,AA		0.0233,0.0,0.0154		194/263	86180769	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86180769A>G	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"Carbonic anhydrases"	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.582A>G	8.37:g.86180769A>G						CA13_ENST00000517298.1_3'UTR	p.T194T	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			6	884	+			194						Silent	SNP	ENST00000321764.3	37	c.582A>G	CCDS6236.1																																																																																				0.403	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		7	137	0	0	0	1	0	7	137					G	86180769	A	G	86180769	2	3	299	1	0	0	0	0	0	0	0	1	2514	204	8	3		3	CA13	8	86180769	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30646746	86180769	60183253	44	30658											
PARP10	84875	broad.mit.edu	37	chr8	145057683	145057683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcttctgcctccaacgGgggctgctccagcagggaga	15	13	2	1	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	ENST00000313028.7	-	8	2168	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_ENST00000524918.1_Missense_Mutation_p.P683S|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.P704S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	692	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17958	0.0		0.0	False		,,,				2504	0.0					ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2074-2076)Ccg>Tcg		poly (ADP-ribose) polymerase family, member 10			SER/PRO	22,4378		0,22,2178	12	14	13		2074	1.3	0	8	dbSNP_134	13	0,8596		0,0,4298	yes	missense	PARP10	NM_032789.3	74	0,22,6476	AA,AG,GG		0.0,0.5,0.1693	benign	692/1026	145057683	22,12974	2200	4298	6498	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057683G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2074C>T	8.37:g.145057683G>A	ENSP00000325618:p.Pro692Ser					PARP10_ENST00000525773.1_Missense_Mutation_p.P704S|PARP10_ENST00000524918.1_Missense_Mutation_p.P683S	p.P692S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2168	-	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)		692			Glu-rich.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2074C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130040	0.01756	0.005	0.0	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.08807	3.05;3.05;3.05	3.22	1.26	0.21427	Ubiquitin interacting motif (1);	1.737490	0.03523	N	0.221362	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.13407	0.009;0.009	T	0.36890	-0.9729	10	0.49607	T	0.09	.	7.7504	0.28894	0.0:0.0:0.5457:0.4543	.	704;692	E9PNI7;Q53GL7	.;PAR10_HUMAN	S	683;398;692;704	ENSP00000431620:P683S;ENSP00000325618:P692S;ENSP00000434776:P704S	ENSP00000325618:P692S	P	-	1	0	PARP10	145129671	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.170000	0.16663	0.329000	0.23460	0.574000	0.79327	CCG		0.677	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		6	23	0	0	0	1	0	6	23					A	145057683	G	A	145057683	3	1	299	1	0	0	0	0	1	0	0	0	11455	1232	43	2	1019	2	PARP10	8	145057683	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	58876914	145057683	1306339	45	30659											
GPR172A	79581	broad.mit.edu	37	chr8	145583729	145583729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccttgagcgttttcccGccagcaccttcttctgggca	8	15	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145583729G>A	ENST00000532887.1	+	3	1160	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	193					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GCGTTTTCCCGCCAGCACCTT	0.662																																						ENST00000532887.1																			0											c.(577-579)Gcc>Acc		solute carrier family 52 (riboflavin transporter), member 2							53	56	55					8																	145583729		2203	4298	6501	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583729G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.577G>A	8.37:g.145583729G>A	ENSP00000436768:p.Ala193Thr					SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T	p.A193T			Q9HAB3	RFT3_HUMAN			3	1160	+			193					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.577G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458299	0.26248	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.62	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	L	0.36672	1.1	0.58432	D	0.999997	D	0.58620	0.983	B	0.41917	0.37	T	0.66019	-0.6027	9	.	.	.	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	193	Q9HAB3	RFT3_HUMAN	T	193;193;193;193;193;105	ENSP00000435820:A193T;ENSP00000434728:A193T;ENSP00000385961:A193T;ENSP00000436768:A193T;ENSP00000333638:A193T;ENSP00000440400:A105T	.	A	+	1	0	GPR172A	145554537	0.999000	0.42202	0.850000	0.33497	0.234000	0.25298	3.833000	0.55790	1.966000	0.57179	0.462000	0.41574	GCC		0.662	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		8	138	0	0	0	1	0	8	138					A	145583729	G	A	145583729	3	1	299	1	0	0	0	0	1	0	0	0	6669	1087	38	1	583	1	GPR172A	8	145583729	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	526046	145583729	780293	46	30660											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	12	3	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:70993121C>T	ENST00000396396.1	+	2	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(268-270)Cga>Tga		phosphoglucomutase 5							38	42	41					9																	70993121		2196	4290	6486	SO:0001587	stop_gained	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993121C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.268C>T	9.37:g.70993121C>T	ENSP00000379678:p.Arg90*					PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			2	497	+			90					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	ENST00000396396.1	37	c.268C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	37	6.608886	0.97701	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.9035	0.52697	0.1751:0.8249:0.0:0.0	.	.	.	.	X	90;90;90;56	.	ENSP00000366531:R90X	R	+	1	2	PGM5	70182941	0.938000	0.31826	0.982000	0.44146	0.973000	0.67179	2.126000	0.42026	2.131000	0.65755	0.544000	0.68410	CGA		0.443	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		20	56	0	0	0	1	0	20	56					T	70993121	C	T	70993121	4	4	299	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		70993121	70220310	47	30661											
GOLGA2	2801	broad.mit.edu	37	chr9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A													atcattctcgtcagcccggtINSaaaaaaaaggaatgcagggg							TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564																																						ENST00000421699.2																			2	Deletion - Frameshift(2)	p.Y977fs*9(2)	ovary(1)|large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2965-2967)ccgfs		golgin A2																																				SO:0001589	frameshift_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019389_131019390insA	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2966dupT	9.37:g.131019397_131019397dupA	ENSP00000416097:p.Tyr989fs						p.P989fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2977_2978	-			989					Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Ins	INS	ENST00000421699.2	37	c.2965_2966insT	CCDS6896.2																																																																																				0.564	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		7	220						7	220	---	---	---	---	A	131019390	-	A	131019389	7	5	299	1	0	1	1	0	0	0	0	0	6552	1638	57	0	46	0	GOLGA2	9	131019389	Frame_Shift_Ins	INS	-	TCGA-HT-8104-01A-11D-2395-08	60026268	131019389	10194042	48	30662											
PTEN	5728	broad.mit.edu	37	chr10	89624301	89624301	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatggattcgacttagacttGacctgtatccatttctgcgg	10	9	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	ENST00000371953.3	+	1	1432	c.75G>T	c.(73-75)ttG>ttT	p.L25F	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(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)		ACTTAGACTTGACCTGTATCC	0.458		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		52	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(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						c.(73-75)ttG>ttT		phosphatase and tensin homolog							160	152	155					10																	89624301		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624301G>T	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.75G>T	10.37:g.89624301G>T	ENSP00000361021:p.Leu25Phe	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L25F	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	1	1432	+		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)	25			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.75G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256616	0.80246	.	.	ENSG00000171862	ENST00000371953	D	0.98684	-5.07	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.164389	0.41605	D	0.000848	D	0.98661	0.9551	M	0.79693	2.465	0.80722	D	1	P	0.51240	0.943	P	0.52109	0.69	D	0.99191	1.0870	9	.	.	.	-0.0822	17.6706	0.88216	0.0:0.0:1.0:0.0	.	25	P60484	PTEN_HUMAN	F	25	ENSP00000361021:L25F	.	L	+	3	2	PTEN	89614281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.031000	0.49728	2.467000	0.83353	0.561000	0.74099	TTG		0.458	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		38	28	1	0	1.30015e-28	1	1.44586e-28	38	28					T	89624301	G	T	89624301	3	4	299	1	0	0	0	0	1	0	0	0	12738	1281	45	4	77	4	PTEN	10	89624301	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		89624301	45910446	49	30663											
DMBT1	1755	broad.mit.edu	37	chr10	124345695	124345695	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacagctgggacaccaatGatgccaatgtggtctgcagg	13	9	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:124345695G>A	ENST00000338354.3	+	16	1685	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4. {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)	p.D527Y(3)		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)				GGACACCAATGATGCCAATGT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			3	Substitution - Missense(3)	p.D527Y(3)	cervix(3)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1579-1581)Gat>Aat		deleted in malignant brain tumors 1							293	225	248					10																	124345695		2062	4180	6242	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345695G>A		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.1579G>A	10.37:g.124345695G>A	ENSP00000342210:p.Asp527Asn					DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.D527N	p.D527N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			16	1685	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	527			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1579G>A		.	.	.	.	.	.	.	.	.	.	G	16.95	3.264109	0.59431	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.5	4.5	0.54988	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.59783	0.2219	M	0.84585	2.705	0.80722	D	1	D;D;D	0.60160	0.983;0.983;0.987	P;P;P	0.56916	0.71;0.71;0.809	T	0.69390	-0.5158	9	0.62326	D	0.03	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	527;517;527	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	N	527;527;527;527;527;527;517;527;517	ENSP00000342210:D527N;ENSP00000343175:D517N;ENSP00000357905:D527N;ENSP00000357951:D517N	ENSP00000342210:D527N	D	+	1	0	DMBT1	124335685	1.000000	0.71417	0.043000	0.18650	0.790000	0.44656	6.170000	0.71920	2.067000	0.61834	0.456000	0.33151	GAT		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	323	0	0	0	1	0	6	323					A	124345695	G	A	124345695	3	1	299	1	0	0	0	0	1	0	0	0	4577	1290	45	2	1641	2	DMBT1	10	124345695	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	34721394	124345695	11189052	50	30664											
MUC6	4588	broad.mit.edu	37	chr11	1026378	1026378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccagggtaggagacccccGagaactcacatgggcactcc	11	15	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	ENST00000421673.2	-	20	2545	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	832					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2494-2496)tCg>tTg		mucin 6, oligomeric mucus/gel-forming							37	43	41					11																	1026378		1979	4150	6129	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1026378G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2495C>T	11.37:g.1026378G>A	ENSP00000406861:p.Ser832Leu						p.S832L	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	20	2545	-		all_cancers(49;3.3e-08)|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;0.229)	832					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.2495C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804440	0.16467	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	3.48	2.47	0.30058	.	.	.	.	.	T	0.17365	0.0417	L	0.55213	1.73	0.09310	N	0.99999	P	0.39665	0.682	B	0.26094	0.066	T	0.07849	-1.0751	9	0.52906	T	0.07	.	11.3995	0.49862	0.0:0.618:0.382:0.0	.	832	Q6W4X9	MUC6_HUMAN	L	832	ENSP00000406861:S832L	ENSP00000406861:S832L	S	-	2	0	MUC6	1016378	0.010000	0.17322	0.017000	0.16124	0.009000	0.06853	0.561000	0.23515	0.782000	0.33613	0.561000	0.74099	TCG		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		17	22	0	0	0	1	0	17	22					A	1026378	G	A	1026378	3	1	299	1	0	0	0	0	1	0	0	0	9980	1059	37	1	4880	1	MUC6	11	1026378	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1026378	133980138	51	30665											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278294	126278294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaatctgcccacttcgaccCcaaagtagaaaacaacccag	6	14	1	2	rs201328069		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:126278294C>G	ENST00000526727.1	+	7	904	c.530C>G	c.(529-531)cCc>cGc	p.P177R	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	177					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACTTCGACCCCAAAGTAGAA	0.532																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(529-531)cCc>cGc		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							144	112	123					11																	126278294		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278294C>G	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.530C>G	11.37:g.126278294C>G	ENSP00000436047:p.Pro177Arg					ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R	p.P177R			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	7	904	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	177					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.530C>G	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506520	0.85282	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.78	4.78	0.61160	.	0.048770	0.85682	D	0.000000	T	0.55289	0.1911	M	0.69823	2.125	0.80722	D	1	P;D;D	0.76494	0.642;0.999;0.999	P;D;D	0.74348	0.753;0.983;0.983	T	0.53746	-0.8395	10	0.41790	T	0.15	-0.1745	18.3543	0.90352	0.0:1.0:0.0:0.0	.	126;173;177	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	R	173;177;183;173;177;177;177;177;166;176;172;13	ENSP00000227495:P173R;ENSP00000394354:P177R;ENSP00000348451:P183R;ENSP00000433989:P173R;ENSP00000433318:P177R;ENSP00000432424:P177R;ENSP00000376437:P177R;ENSP00000436047:P177R;ENSP00000399444:P166R;ENSP00000434349:P176R;ENSP00000434668:P172R;ENSP00000431170:P13R	ENSP00000227495:P173R	P	+	2	0	ST3GAL4	125783504	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.878000	0.75567	2.633000	0.89246	0.561000	0.74099	CCC		0.532	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		3	91	0	0	0	1	0	3	91					G	126278294	C	G	126278294	3	3	299	1	0	0	0	0	1	0	0	0	15216	623	22	4	544	4	ST3GAL4	11	126278294	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	125251916	126278294	8728222	52	30666											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995491	1995491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatactgccgctcacGtccaccaaaatcactatgtc	4	17	3	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	ENST00000382722.5	-	8	1253	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.D297D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	297	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(889-891)gaC>gaT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							115	113	113					12																	1995491		2087	4211	6298	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995491G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.891C>T	12.37:g.1995491G>A						CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000586184.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron	p.D297D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	8	1253	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	297			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.891C>T	CCDS44785.1																																																																																				0.488	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			28	41	0	0	0	1	0	28	41					A	1995491	G	A	1995491	2	1	299	1	0	0	0	0	0	0	0	1	2551	1136	40	1		1	CACNA2D4	12	1995491	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1995491	131856404	53	30667											
DIP2B	57609	broad.mit.edu	37	chr12	51086786	51086786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgggctgtggcacgGcatgtttgcggtaagctact	16	8	0	0	rs558372817	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:51086786G>A	ENST00000301180.5	+	14	1743	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	570						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						CTGTGGCACGGCATGTTTGCG	0.388																																						ENST00000301180.5																			0				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						c.(1708-1710)gGc>gAc		DIP2 disco-interacting protein 2 homolog B (Drosophila)							112	110	111					12																	51086786		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51086786G>A	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.1709G>A	12.37:g.51086786G>A	ENSP00000301180:p.Gly570Asp						p.G570D	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			14	1743	+			570					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1709G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199627	0.94997	.	.	ENSG00000066084	ENST00000301180	T	0.41758	0.99	4.93	4.93	0.64822	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.72118	2.19	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	T	0.67711	-0.5600	10	0.87932	D	0	-12.3393	18.3443	0.90315	0.0:0.0:1.0:0.0	.	570	Q9P265	DIP2B_HUMAN	D	570	ENSP00000301180:G570D	ENSP00000301180:G570D	G	+	2	0	DIP2B	49373053	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.158000	0.64917	2.577000	0.86979	0.650000	0.86243	GGC		0.388	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		3	64	0	0	0	1	0	3	64					A	51086786	G	A	51086786	3	1	299	1	0	0	0	0	1	0	0	0	4528	1203	42	2	1763	2	DIP2B	12	51086786	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	49091295	51086786	82765109	54	30668											
TRHDE	29953	broad.mit.edu	37	chr12	72893328	72893328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagtgatgctgctggaCggtttggccagttcccatcc	12	11	0	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	ENST00000261180.4	+	6	1596	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	500					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D500D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458																																						ENST00000261180.4																			1	Substitution - coding silent(1)	p.D500D(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1498-1500)gaC>gaT		thyrotropin-releasing hormone degrading enzyme							176	137	150					12																	72893328		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72893328C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1500C>T	12.37:g.72893328C>T							p.D500D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			6	1596	+			500					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.1500C>T	CCDS9004.1																																																																																				0.458	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		34	50	0	0	0	1	0	34	50					T	72893328	C	T	72893328	2	4	299	1	0	0	0	0	0	0	0	1	16476	535	19	1		1	TRHDE	12	72893328	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	21806542	72893328	60958567	55	30669											
SLC6A15	55117	broad.mit.edu	37	chr12	85267059	85267059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacctaaggcaaagaacaCttgagtagcagcttctctcc	8	12	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:85267059C>A	ENST00000266682.5	-	7	1457	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L|SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	306					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAAGAACACTTGAGTAGCA	0.403																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(916-918)Gtg>Ttg		solute carrier family 6 (neutral amino acid transporter), member 15							143	142	142					12																	85267059		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85267059C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.916G>T	12.37:g.85267059C>A	ENSP00000266682:p.Val306Leu					SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L|SLC6A15_ENST00000551388.1_Intron	p.V306L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			7	1457	-			306					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.916G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508187	0.96386	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	6.17	6.17	0.99709	.	0.055231	0.64402	D	0.000001	D	0.88753	0.6522	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.87713	0.2568	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	14;306	F8WJN6;Q9H2J7	.;S6A15_HUMAN	L	14;306;22;199;14;22	ENSP00000311645:V14L;ENSP00000266682:V306L;ENSP00000450145:V199L;ENSP00000449263:V22L	ENSP00000266682:V306L	V	-	1	0	SLC6A15	83791190	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GTG		0.403	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	158	1	0	0.217242	1	0.218939	5	158					A	85267059	C	A	85267059	3	1	299	1	0	0	0	0	1	0	0	0	14678	565	20	4	1300	4	SLC6A15	12	85267059	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12373731	85267059	48584836	56	30670											
WSCD2	9671	broad.mit.edu	37	chr12	108589925	108589925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagagagccaagcttggcGactacggtggagcctggagc	16	9	0	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	ENST00000332082.4	+	3	1134	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	106						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(316-318)Gac>Aac		WSC domain containing 2							58	60	60					12																	108589925		2017	4177	6194	SO:0001583	missense	9671					integral to membrane		g.chr12:108589925G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.316G>A	12.37:g.108589925G>A	ENSP00000331933:p.Asp106Asn					WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N	p.D106N			Q2TBF2	WSCD2_HUMAN			3	1134	+			106					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.316G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879298	0.51801	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30448	1.54;1.53;1.54;1.53	5.74	5.74	0.90152	.	0.317663	0.37053	N	0.002266	T	0.26919	0.0659	L	0.56769	1.78	0.51482	D	0.999924	P	0.47545	0.897	B	0.29663	0.105	T	0.13495	-1.0507	10	0.25106	T	0.35	-38.5661	18.8897	0.92395	0.0:0.0:1.0:0.0	.	106	Q2TBF2	WSCD2_HUMAN	N	106	ENSP00000448047:D106N;ENSP00000261400:D106N;ENSP00000331933:D106N;ENSP00000447272:D106N	ENSP00000261400:D106N	D	+	1	0	WSCD2	107114055	1.000000	0.71417	0.992000	0.48379	0.487000	0.33371	5.607000	0.67648	2.704000	0.92352	0.655000	0.94253	GAC		0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		31	54	0	0	0	1	0	31	54					A	108589925	G	A	108589925	3	1	299	1	0	0	0	0	1	0	0	0	17404	1058	37	1	318	1	WSCD2	12	108589925	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	23322866	108589925	25261970	57	30671											
FARP1	10160	broad.mit.edu	37	chr13	99083337	99083337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacagcgaggccttggAggccctggagaatggaatca	15	9	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr13:99083337A>G	ENST00000319562.6	+	18	2211	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	FARP1_ENST00000595437.1_Missense_Mutation_p.E649G|FARP1_ENST00000376586.2_Missense_Mutation_p.E649G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	649	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)			GAGGCCTTGGAGGCCCTGGAG	0.582																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1945-1947)gAg>gGg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							47	52	50					13																	99083337		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99083337A>G	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.1946A>G	13.37:g.99083337A>G	ENSP00000322926:p.Glu649Gly					FARP1_ENST00000319562.6_Missense_Mutation_p.E649G|FARP1_ENST00000595437.1_Missense_Mutation_p.E649G	p.E649G			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		18	2282	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		649			DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1946A>G	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846442	0.32606	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.65364	-0.15;-0.15	5.42	2.49	0.30216	Dbl homology (DH) domain (5);	0.519066	0.19723	N	0.107534	T	0.51907	0.1702	L	0.48642	1.525	0.28580	N	0.910177	B;P	0.34699	0.213;0.464	B;B	0.38880	0.162;0.284	T	0.48514	-0.9029	10	0.42905	T	0.14	.	4.8852	0.13699	0.3852:0.2318:0.0:0.383	.	649;649	Q9Y4F1;C9JME2	FARP1_HUMAN;.	G	649	ENSP00000365771:E649G;ENSP00000322926:E649G	ENSP00000322926:E649G	E	+	2	0	FARP1	97881338	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	3.348000	0.52209	0.948000	0.37687	0.528000	0.53228	GAG		0.582	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		3	73	0	0	0	1	0	3	73					G	99083337	A	G	99083337	3	3	299	1	0	0	0	0	1	0	0	0	5676	304	11	3	2235	3	FARP1	13	99083337	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08		99083337	16086541	58	30672											
ADCY4	196883	broad.mit.edu	37	chr14	24793338	24793338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctattctcagtcctggtCgtgtggccaccaggccagac	12	13	1	1	rs374008973		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	ENST00000310677.4	-	17	2089	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	659					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)		CAGTCCTGGTCGTGTGGCCAC	0.622																																						ENST00000310677.4																			0				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						c.(1975-1977)cGa>cAa		adenylate cyclase 4		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	69	63	65		1976,1976,1976	4	1	14		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	659/1078,659/1078,659/1078	24793338	1,13005	2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793338C>T	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.1976G>A	14.37:g.24793338C>T	ENSP00000312126:p.Arg659Gln					ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q	p.R659Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	17	2089	-			659					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1976G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236286	0.39498	0.0	1.16E-4	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.80393	-1.13;-1.13;-1.13;-1.37	4.93	4.04	0.47022	.	0.170847	0.27223	N	0.020345	T	0.75110	0.3805	L	0.61387	1.9	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60444	-0.7262	10	0.22109	T	0.4	.	10.8351	0.46683	0.0:0.9084:0.0:0.0916	.	659	Q8NFM4	ADCY4_HUMAN	Q	659;659;659;352	ENSP00000312126:R659Q;ENSP00000452250:R659Q;ENSP00000393177:R659Q;ENSP00000379971:R352Q	ENSP00000312126:R659Q	R	-	2	0	ADCY4	23863178	0.000000	0.05858	0.981000	0.43875	0.995000	0.86356	0.289000	0.18957	1.313000	0.45069	0.563000	0.77884	CGA		0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			18	46	0	0	0	1	0	18	46					T	24793338	C	T	24793338	3	4	299	1	0	0	0	0	1	0	0	0	296	884	31	1	1297	1	ADCY4	14	24793338	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		24793338	82556202	59	30673											
PML	5371	broad.mit.edu	37	chr15	74315324	74315324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggagcaggatagtgCctttggcgcggttcacgcgc	16	11	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	ENST00000268058.3	+	3	854	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D|PML_ENST00000565898.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000395135.3_Missense_Mutation_p.A253D	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	253					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						CAGGATAGTGCCTTTGGCGCG	0.687			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				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						c.(757-759)gCc>gAc		promyelocytic leukemia							25	21	22					15																	74315324		2197	4295	6492	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315324C>A	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.758C>A	15.37:g.74315324C>A	ENSP00000268058:p.Ala253Asp					PML_ENST00000395135.3_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D|PML_ENST00000268058.3_Missense_Mutation_p.A253D|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D	p.A253D			P29590	PML_HUMAN			3	842	+			253					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.758C>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	8.583	0.882806	0.17467	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.47177	0.85	4.82	2.9	0.33743	.	1.012730	0.07911	N	0.974317	T	0.50684	0.1630	L	0.47716	1.5	0.09310	N	0.999992	D;B;P;B;P;P;P;P;B;D;P;D;B	0.65815	0.959;0.12;0.946;0.143;0.682;0.692;0.801;0.914;0.134;0.985;0.496;0.995;0.098	P;B;P;B;B;B;B;P;B;P;B;P;B	0.55577	0.681;0.123;0.702;0.071;0.281;0.281;0.398;0.5;0.074;0.668;0.261;0.779;0.122	T	0.39542	-0.9609	10	0.36615	T	0.2	-16.4834	5.0404	0.14456	0.0:0.6413:0.189:0.1697	.	253;203;253;253;253;253;253;253;253;253;253;253;256	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	D	253	ENSP00000268058:A253D	ENSP00000268058:A253D	A	+	2	0	PML	72102377	0.000000	0.05858	0.508000	0.27688	0.037000	0.13140	-0.663000	0.05299	2.224000	0.72417	0.313000	0.20887	GCC		0.687	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		13	20	1	0	4.3838e-07	1	4.67364e-07	13	20					A	74315324	C	A	74315324	3	1	299	1	0	0	0	0	1	0	0	0	12135	739	26	4	768	4	PML	15	74315324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		74315324	28216068	60	30674											
CYP1A2	1544	broad.mit.edu	37	chr15	75042332	75042332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcattggctccacgcccGtgctggtgctgagccgcctg	13	16	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	ENST00000343932.4	+	2	316	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	85					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CTCCACGCCCGTGCTGGTGCT	0.667																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(253-255)Gtg>Atg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						50	45	47					15																	75042332		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042332G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.253G>A	15.37:g.75042332G>A	ENSP00000342007:p.Val85Met						p.V85M	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	316	+			85					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.253G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405816	0.83230	.	.	ENSG00000140505	ENST00000343932	T	0.69175	-0.38	4.98	4.98	0.66077	.	0.054494	0.64402	D	0.000001	D	0.83046	0.5169	M	0.88775	2.98	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.85526	0.1206	10	0.72032	D	0.01	.	11.8463	0.52387	0.0799:0.0:0.92:0.0	.	85	P05177-2	.	M	85	ENSP00000342007:V85M	ENSP00000342007:V85M	V	+	1	0	CYP1A2	72829385	1.000000	0.71417	0.958000	0.39756	0.913000	0.54294	7.541000	0.82084	2.580000	0.87095	0.561000	0.74099	GTG		0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		30	57	0	0	0	1	0	30	57					A	75042332	G	A	75042332	3	1	299	1	0	0	0	0	1	0	0	0	4150	1145	40	1	255	1	CYP1A2	15	75042332	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	727008	75042332	27489060	61	30675											
IREB2	3658	broad.mit.edu	37	chr15	78778046	78778046	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtttgttggctgtgcaGgtcttttggctaaaaaggct	12	6	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:78778046G>A	ENST00000258886.8	+	13	1722		c.e13-1			NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2						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)		TGGCTGTGCAGGTCTTTTGGC	0.363																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				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						c.e13-1		iron-responsive element binding protein 2							138	127	131					15																	78778046		2196	4293	6489	SO:0001630	splice_region_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78778046G>A	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.1574-1G>A	15.37:g.78778046G>A								NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	13	1722	+								A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Splice_Site	SNP	ENST00000258886.8	37		CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758773	0.89843	.	.	ENSG00000136381	ENST00000258886	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IREB2	76565101	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.367000	0.97148	2.840000	0.97914	0.655000	0.94253	.		0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	Intron	3	150	0	0	0	1	0	3	150					A	78778046	G	A	78778046	5	1	299	1	0	0	0	0	0	0	1	0	7826	1014	35	2	1623	2	IREB2	15	78778046	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	3735714	78778046	23753346	62	30676											
ASB7	140460	broad.mit.edu	37	chr15	101170214	101170214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagtatttctggaagtagtCgaccatgtttggatttctta	9	5	2	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	ENST00000332783.7	+	5	1569	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	262					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358																																						ENST00000332783.7																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16						c.(784-786)Cga>Tga		ankyrin repeat and SOCS box containing 7							50	50	50					15																	101170214		2203	4300	6503	SO:0001587	stop_gained	140460				intracellular signal transduction			g.chr15:101170214C>T		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"Ankyrin repeat domain containing"	17182	protein-coding gene	gene with protein product		615052	"ankyrin repeat and SOCS box-containing 7"				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.784C>T	15.37:g.101170214C>T	ENSP00000328327:p.Arg262*					ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*	p.R262*	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	1569	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		262					A8K1E5|Q6GSJ6|Q7Z4S3	Nonsense_Mutation	SNP	ENST00000332783.7	37	c.784C>T	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	43	10.089410	0.99333	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	.	.	.	5.68	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-0.1492	15.1408	0.72609	0.2583:0.7416:0.0:0.0	.	.	.	.	X	262	.	ENSP00000328327:R262X	R	+	1	2	ASB7	98987737	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.430000	0.59907	0.816000	0.34421	-0.188000	0.12872	CGA		0.358	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		30	46	0	0	0	1	0	30	46					T	101170214	C	T	101170214	4	4	299	1	0	0	0	0	0	1	0	0	1028	876	31	1	790	1	ASB7	15	101170214	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	22392168	101170214	1361178	63	30677											
IFT140	9742	broad.mit.edu	37	chr16	1568282	1568282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagacgtccccgatgcggaTggtgctgtccaggtctggtt	14	10	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	ENST00000426508.2	-	30	4480	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1373					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)				CCGATGCGGATGGTGCTGTCC	0.602																																						ENST00000426508.2																			0				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						c.(4117-4119)Atc>Gtc		intraflagellar transport 140 homolog (Chlamydomonas)							113	81	92					16																	1568282		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1568282T>C	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.4117A>G	16.37:g.1568282T>C	ENSP00000406012:p.Ile1373Val					IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	p.I1373V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			30	4480	-		Hepatocellular(780;0.219)	1373					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.4117A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.296942	0.00245	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.53640	1.74;0.61	4.68	-3.88	0.04205	.	0.507715	0.20030	N	0.100733	T	0.18882	0.0453	N	0.05510	-0.035	0.30062	N	0.810792	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.36456	-0.9747	10	0.02654	T	1	.	11.3699	0.49694	0.0:0.3841:0.0:0.6159	.	1373;1060	Q96RY7;B4DR58	IF140_HUMAN;.	V	1373;567;1373	ENSP00000354895:I567V;ENSP00000406012:I1373V	ENSP00000354895:I567V	I	-	1	0	IFT140	1508283	0.000000	0.05858	0.004000	0.12327	0.031000	0.12232	-0.597000	0.05713	-1.401000	0.02058	-1.162000	0.01777	ATC		0.602	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		20	37	0	0	0	1	0	20	37					C	1568282	T	C	1568282	3	2	299	1	0	0	0	0	1	0	0	0	7556	1464	51	3	279	3	IFT140	16	1568282	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08		1568282	88786471	64	30678											
DNAH3	55567	broad.mit.edu	37	chr16	21049263	21049263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagaggacagttgttcCgagcacaggcggtaggtcgc	16	9	0	1	rs536529487		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	ENST00000261383.3	-	34	4769	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S	DNAH3_ENST00000415178.1_Silent_p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1590	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)|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)		ACAGTTGTTCCGAGCACAGGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		22454	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				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						c.(4768-4770)tcG>tcA		dynein, axonemal, heavy chain 3							106	82	90					16																	21049263		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049263C>T	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.4770G>A	16.37:g.21049263C>T						DNAH3_ENST00000415178.1_Silent_p.S1590S	p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4769	-			1590			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4770G>A	CCDS10594.1																																																																																				0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		16	29	0	0	0	1	0	16	29					T	21049263	C	T	21049263	2	4	299	1	0	0	0	0	0	0	0	1	4603	639	23	1		1	DNAH3	16	21049263	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	19480981	21049263	69305490	65	30679											
HIRIP3	8479	broad.mit.edu	37	chr16	30006762	30006762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctaagtacctccgccGcacgatggaatgcgtaagcg	13	11	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:30006762G>A	ENST00000279392.3	-	2	918	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000566471.1_Intron|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'UTR|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	30					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TACCTCCGCCGCACGATGGAA	0.652																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(88-90)Cgg>Tgg		HIRA interacting protein 3							42	44	43					16																	30006762		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006762G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.88C>T	16.37:g.30006762G>A	ENSP00000279392:p.Arg30Trp					HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W|INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron	p.R30W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			2	918	-			30					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.88C>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700356	0.88924	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.37752	1.18	5.25	4.26	0.50523	.	0.072624	0.52532	D	0.000068	T	0.56292	0.1975	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	T	0.58792	-0.7574	10	0.87932	D	0	-14.4619	13.1118	0.59277	0.0:0.0:0.8399:0.1601	.	30;30	B2R6A9;Q9BW71	.;HIRP3_HUMAN	W	30	ENSP00000279392:R30W	ENSP00000279392:R30W	R	-	1	2	HIRIP3	29914263	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.465000	0.53064	2.730000	0.93505	0.650000	0.86243	CGG		0.652	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		3	85	0	0	0	1	0	3	85					A	30006762	G	A	30006762	3	1	299	1	0	0	0	0	1	0	0	0	7121	1086	38	1	1606	1	HIRIP3	16	30006762	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	8957499	30006762	60347991	66	30680											
AMFR	267	broad.mit.edu	37	chr16	56396893	56396893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgacgcagggtcacgggGtcagaggacgcaccttccga	14	13	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	ENST00000290649.5	-	14	2070	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	620	VCP/p97-interacting motif (VIM).				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1858-1860)gaC>gaT		autocrine motility factor receptor, E3 ubiquitin protein ligase							49	43	45					16																	56396893		2198	4300	6498	SO:0001819	synonymous_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56396893G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1860C>T	16.37:g.56396893G>A							p.D620D	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			14	2070	-			620					P26442|Q8IZ70	Silent	SNP	ENST00000290649.5	37	c.1860C>T	CCDS10758.1																																																																																				0.567	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			29	16	0	0	0	1	0	29	16					A	56396893	G	A	56396893	2	1	299	1	0	0	0	0	0	0	0	1	571	1252	44	2		2	AMFR	16	56396893	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	26390131	56396893	33957860	67	30681											
MYH13	8735	broad.mit.edu	37	chr17	10223518	10223518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaactgtggacttgttcGtcatctattttggcttgtaa	9	7	2	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	ENST00000418404.3	-	25	3463	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.D1100D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1100					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						GGACTTGTTCGTCATCTATTT	0.388																																						ENST00000418404.3																			0				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						c.(3298-3300)gaC>gaT		myosin, heavy chain 13, skeletal muscle							97	87	90					17																	10223518		1845	4089	5934	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10223518G>A	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.3300C>T	17.37:g.10223518G>A						MYH13_ENST00000570743.1_Silent_p.D1100D|MYH13_ENST00000252172.4_Silent_p.D1100D	p.D1100D			Q9UKX3	MYH13_HUMAN			25	3463	-			1100					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3300C>T	CCDS45613.1																																																																																				0.388	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	11	0	0	0	1	0	6	11					A	10223518	G	A	10223518	2	1	299	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10223518	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		10223518	70971692	68	30682											
MYH13	8735	broad.mit.edu	37	chr17	10248554	10248554	+	Frame_Shift_Del	DEL	T	T	-													gatgcaggcagccaggtccaTtccgaagtcaatgaactccc							TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10248554delT	ENST00000418404.3	-	14	1712	c.1549delA	c.(1549-1551)atgfs	p.M517fs	MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	517	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						GCCAGGTCCATTCCGAAGTCA	0.522																																						ENST00000418404.3																			0				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						c.(1549-1551)tgfs		myosin, heavy chain 13, skeletal muscle							192	167	176					17																	10248554		2203	4300	6503	SO:0001589	frameshift_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248554delT	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.1549delA	17.37:g.10248554delT	ENSP00000404570:p.Met517fs					MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs|MYH13_ENST00000570743.1_Frame_Shift_Del_p.M517fs	p.M517fs			Q9UKX3	MYH13_HUMAN			14	1712	-			517			Myosin head-like.		O95252|Q9P0U8	Frame_Shift_Del	DEL	ENST00000418404.3	37	c.1549delA	CCDS45613.1																																																																																				0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		13	181						13	181	---	---	---	---	-	10248554	T	-	10248554	7	5	299	1	0	1	0	1	0	0	0	0	10032	1493	52	0	4375	0	MYH13	17	10248554	Frame_Shift_Del	DEL	T	TCGA-HT-8104-01A-11D-2395-08	25036	10248554	70946656	69	30683											
SUZ12	23512	broad.mit.edu	37	chr17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttccagccagaagaaaaCgaaatcgtgaggatggggaa	13	7	0	3	rs372162318		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R286*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	1	Substitution - Nonsense(1)	p.R286*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(856-858)Cga>Tga		SUZ12 polycomb repressive complex 2 subunit							82	80	81					17																	30303572		2203	4300	6503	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30303572C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.856C>T	17.37:g.30303572C>T	ENSP00000316578:p.Arg286*					SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	p.R286*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			8	1085	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	286					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.856C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	C	38	6.852282	0.97885	.	.	ENSG00000178691	ENST00000322652	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.208	13.7539	0.62923	0.1543:0.8457:0.0:0.0	.	.	.	.	X	286	.	ENSP00000316578:R286X	R	+	1	2	SUZ12	27327685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.451000	0.44952	2.257000	0.74773	0.603000	0.83216	CGA		0.343	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		3	49	0	0	0	1	0	3	49					T	30303572	C	T	30303572	4	4	299	1	0	0	0	0	0	1	0	0	15413	528	19	1	886	1	SUZ12	17	30303572	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	20055018	30303572	50891638	70	30684											
KRT16	3868	broad.mit.edu	37	chr17	39768742	39768742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagccaccgccatagcCgccccccagcccgcaggctc	10	21	0	1	rs62066634	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:39768742C>T	ENST00000301653.4	-	1	263	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	67	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCGCCATAGCCGCCCCCCAGC	0.692													c|||	8	0.00159744	0.0	0.0	5008	,	,		15014	0.0		0.008	False		,,,				2504	0.0					ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(199-201)Ggc>Agc		keratin 16		C	SER/GLY	9,4359		0,9,2175	32	37	35		199	2.3	1	17	dbSNP_129	35	50,8502		0,50,4226	no	missense	KRT16	NM_005557.3	56	0,59,6401	TT,TC,CC		0.5847,0.206,0.4567	benign	67/474	39768742	59,12861	2184	4276	6460	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768742C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	6423	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.199G>A	17.37:g.39768742C>T	ENSP00000301653:p.Gly67Ser						p.G67S	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	263	-		Breast(137;0.000307)	67			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.199G>A	CCDS11401.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	C	3.350	-0.132743	0.06711	0.00206	0.005847	ENSG00000186832	ENST00000301653	D	0.85088	-1.94	4.33	2.34	0.29019	.	0.000000	0.46442	D	0.000299	T	0.62925	0.2468	N	0.19112	0.55	0.43793	D	0.996331	B	0.18166	0.026	B	0.14578	0.011	T	0.55477	-0.8135	10	0.27785	T	0.31	.	5.7728	0.18263	0.1373:0.6286:0.0:0.2341	rs62066634	67	P08779	K1C16_HUMAN	S	67	ENSP00000301653:G67S	ENSP00000301653:G67S	G	-	1	0	KRT16	37022268	0.840000	0.29493	0.960000	0.40013	0.400000	0.30750	1.638000	0.37165	0.578000	0.29487	-0.448000	0.05591	GGC		0.692	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		5	14	0	0	0	1	0	5	14					T	39768742	C	T	39768742	3	4	299	1	0	0	0	0	1	0	0	0	8453	652	23	1	1254	1	KRT16	17	39768742	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	9465170	39768742	41426468	71	30685											
ARHGAP28	79822	broad.mit.edu	37	chr18	6873483	6873483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagacatgaagaaaatcCgccatctctctctgattgaa	7	10	2	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:6873483C>T	ENST00000383472.4	+	8	1134	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R185C|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	344					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)				GAAGAAAATCCGCCATCTCTC	0.368																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(553-555)Cgc>Tgc		Rho GTPase activating protein 28							154	155	154					18																	6873483		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6873483C>T	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.1030C>T	18.37:g.6873483C>T	ENSP00000372964:p.Arg344Cys					ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R344C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|RP11-146G7.2_ENST00000583659.1_RNA	p.R185C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			7	770	+		Colorectal(10;0.168)	167					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.553C>T		.	.	.	.	.	.	.	.	.	.	C	15.25	2.777025	0.49786	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09723	3.12;3.07;3.02;3.03;3.02;2.95	5.26	5.26	0.73747	.	0.050237	0.85682	D	0.000000	T	0.06917	0.0176	L	0.34521	1.04	0.58432	D	0.999994	P;B;B;P	0.40197	0.706;0.238;0.351;0.698	B;B;B;B	0.31614	0.059;0.029;0.133;0.106	T	0.30387	-0.9980	10	0.30854	T	0.27	.	8.5948	0.33710	0.1525:0.7707:0.0:0.0768	.	344;176;185;292	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	344;292;185;180;185;185;176;167	ENSP00000382963:R344C;ENSP00000262227:R292C;ENSP00000392660:R185C;ENSP00000437262:R180C;ENSP00000313506:R185C;ENSP00000406907:R185C	ENSP00000262227:R292C	R	+	1	0	ARHGAP28	6863483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.161000	0.42358	2.614000	0.88457	0.650000	0.86243	CGC		0.368	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		3	94	0	0	0	1	0	3	94					T	6873483	C	T	6873483	3	4	299	1	0	0	0	0	1	0	0	0	877	652	23	1	575	1	ARHGAP28	18	6873483	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6873483	71203765	72	30686											
GATA6	2627	broad.mit.edu	37	chr18	19751314	19751314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcgacacggaggcggCggccggacccccggcccgct	15	18	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:19751314C>A	ENST00000269216.3	+	2	486	c.209C>A	c.(208-210)gCg>gAg	p.A70E	GATA6_ENST00000581694.1_Missense_Mutation_p.A70E|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	70					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACGGAGGCGGCGGCCGGACCC	0.761																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(208-210)gCg>gAg		GATA binding protein 6							5	6	6					18																	19751314		1727	3676	5403	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751314C>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.209C>A	18.37:g.19751314C>A	ENSP00000269216:p.Ala70Glu					GATA6_ENST00000581694.1_Missense_Mutation_p.A70E	p.A70E	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	486	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		70					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.209C>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105593	0.20632	.	.	ENSG00000141448	ENST00000269216	D	0.98044	-4.68	3.17	0.647	0.17796	.	0.732852	0.12207	U	0.489712	D	0.90868	0.7131	N	0.08118	0	0.25264	N	0.989571	B	0.31100	0.308	B	0.27262	0.078	D	0.86292	0.1674	10	0.56958	D	0.05	-26.702	4.6898	0.12776	0.0:0.6144:0.2149:0.1706	.	70	Q92908	GATA6_HUMAN	E	70	ENSP00000269216:A70E	ENSP00000269216:A70E	A	+	2	0	GATA6	18005312	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	2.690000	0.47001	0.498000	0.27948	0.455000	0.32223	GCG		0.761	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		6	17	1	0	5.9392e-07	1	6.27997e-07	6	17					A	19751314	C	A	19751314	3	1	299	1	0	0	0	0	1	0	0	0	6258	768	27	4	211	4	GATA6	18	19751314	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12877831	19751314	58325934	73	30687											
DSG2	1829	broad.mit.edu	37	chr18	29126335	29126335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagagtaatacagcctcatGggggtggatcgaatcctctg	12	8	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:29126335G>T	ENST00000261590.8	+	15	3195	c.2986G>T	c.(2986-2988)Ggg>Tgg	p.G996W	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	996					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)			ACAGCCTCATGGGGGTGGATC	0.498																																						ENST00000261590.8																			0				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						c.(2986-2988)Ggg>Tgg		desmoglein 2							83	85	84					18																	29126335		1967	4150	6117	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126335G>T	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.2986G>T	18.37:g.29126335G>T	ENSP00000261590:p.Gly996Trp					RP11-75N4.2_ENST00000583706.1_RNA	p.G996W	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3195	+			996					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2986G>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737671	0.30774	.	.	ENSG00000046604	ENST00000261590	T	0.77098	-1.07	5.16	5.16	0.70880	.	0.098116	0.45126	D	0.000391	D	0.84474	0.5480	L	0.52573	1.65	0.42806	D	0.993948	D	0.76494	0.999	D	0.76575	0.988	D	0.85494	0.1187	10	0.87932	D	0	.	14.7098	0.69222	0.0:0.0:0.8549:0.1451	.	996	Q14126	DSG2_HUMAN	W	996	ENSP00000261590:G996W	ENSP00000261590:G996W	G	+	1	0	DSG2	27380333	0.017000	0.18338	0.028000	0.17463	0.072000	0.16883	1.255000	0.32909	2.840000	0.97914	0.655000	0.94253	GGG		0.498	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		5	77	1	0	0.014758	1	0.0149904	5	77					T	29126335	G	T	29126335	3	4	299	1	0	0	0	0	1	0	0	0	4777	1348	47	4	3044	4	DSG2	18	29126335	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9375021	29126335	48950913	74	30688											
MKNK2	2872	broad.mit.edu	37	chr19	2043519	2043519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtgtccctggcactgGtacagcatctccacctccct	7	17	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	ENST00000591601.1	-	5	437	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.Y134Y|MKNK2_ENST00000250896.3_Silent_p.Y134Y			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		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)		CCTGGCACTGGTACAGCATCT	0.587																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(400-402)taC>taT		MAP kinase interacting serine/threonine kinase 2							159	109	126					19																	2043519		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043519G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.402C>T	19.37:g.2043519G>A						MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591601.1_Silent_p.Y134Y|MKNK2_ENST00000309340.7_Silent_p.Y134Y	p.Y134Y	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		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)	6	646	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	134			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.402C>T	CCDS12080.1																																																																																				0.587	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		19	59	0	0	0	1	0	19	59					A	2043519	G	A	2043519	2	1	299	1	0	0	0	0	0	0	0	1	9605	1256	44	2		2	MKNK2	19	2043519	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		2043519	57085464	75	30689											
RNASEH2A	10535	broad.mit.edu	37	chr19	12920991	12920991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcagatgccctctaccCggtggttagtgctgccagca	11	13	1	1	rs369355807		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	ENST00000221486.4	+	5	612	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	173					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582																																						ENST00000221486.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(517-519)cCg>cTg		ribonuclease H2, subunit A		C	LEU/PRO	0,4406		0,0,2203	126	108	114		518	5.3	0.1	19		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNASEH2A	NM_006397.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	173/300	12920991	1,13005	2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12920991C>T	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.518C>T	19.37:g.12920991C>T	ENSP00000221486:p.Pro173Leu						p.P173L	NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN			5	612	+			173					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.518C>T	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458752	0.63401	0.0	1.16E-4	ENSG00000104889	ENST00000221486	D	0.84589	-1.87	5.31	5.31	0.75309	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.055211	0.64402	D	0.000001	D	0.90998	0.7169	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91712	0.5382	10	0.72032	D	0.01	-8.1204	17.7294	0.88373	0.0:1.0:0.0:0.0	.	173	O75792	RNH2A_HUMAN	L	173	ENSP00000221486:P173L	ENSP00000221486:P173L	P	+	2	0	RNASEH2A	12781991	1.000000	0.71417	0.063000	0.19743	0.044000	0.14063	6.952000	0.75989	2.473000	0.83533	0.561000	0.74099	CCG		0.582	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		35	112	0	0	0	1	0	35	112					T	12920991	C	T	12920991	3	4	299	1	0	0	0	0	1	0	0	0	13412	652	23	1	536	1	RNASEH2A	19	12920991	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	10877472	12920991	46207992	76	30690											
CYP2S1	29785	broad.mit.edu	37	chr19	41703792	41703792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgaggagctgatccaggCggaggcccggtgtctggtgg	20	9	1	1	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	ENST00000310054.4	+	3	668	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	151					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)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(451-453)gCg>gTg		cytochrome P450, family 2, subfamily S, polypeptide 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58	57	57		452	1.2	0.5	19	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP2S1	NM_030622.6	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	151/505	41703792	2,13004	2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41703792C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.452C>T	19.37:g.41703792C>T	ENSP00000308032:p.Ala151Val					CYP2S1_ENST00000542619.1_Intron	p.A151V	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			3	668	+			151					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.452C>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177587	0.57692	2.27E-4	1.16E-4	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68903	-0.36	4.87	1.2	0.21068	.	0.276657	0.32386	N	0.006179	T	0.61874	0.2382	L	0.58428	1.81	0.80722	D	1	P	0.51653	0.947	B	0.43889	0.435	T	0.65245	-0.6215	10	0.66056	D	0.02	.	11.3497	0.49581	0.6607:0.3393:0.0:0.0	.	151	Q96SQ9	CP2S1_HUMAN	V	151	ENSP00000308032:A151V	ENSP00000301173:A151V	A	+	2	0	CYP2S1	46395632	0.352000	0.24895	0.475000	0.27278	0.366000	0.29705	1.636000	0.37144	0.440000	0.26502	0.485000	0.47835	GCG		0.622	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			9	44	0	0	0	1	0	9	44					T	41703792	C	T	41703792	3	4	299	1	0	0	0	0	1	0	0	0	4174	768	27	1	462	1	CYP2S1	19	41703792	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	28782801	41703792	17425191	77	30691											
ZNF665	79788	broad.mit.edu	37	chr19	53668011	53668011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaatgtacactaaatgCtttgccgcactcattacact	6	10	1	1	rs201975096		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	ENST00000600412.1	-	2	1652	c.1537G>C	c.(1537-1539)Gca>Cca	p.A513P	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	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)			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)		ACACTAAATGCTTTGCCGCAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21436	0.0		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1537-1539)Gca>Cca		zinc finger protein 665		C	PRO/ALA	3,4403	6.2+/-15.9	0,3,2200	119	122	121		1732	-0.9	0	19		121	0,8600		0,0,4300	yes	missense	ZNF665	NM_024733.3	27	0,3,6500	GG,GC,CC		0.0,0.0681,0.0231	possibly-damaging	578/679	53668011	3,13003	2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668011C>G		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.1537G>C	19.37:g.53668011C>G	ENSP00000469154:p.Ala513Pro					ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P	p.A513P			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1652	-			513					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1537G>C		.	.	.	.	.	.	.	.	.	.	C	12.63	1.995297	0.35226	6.81E-4	0.0	ENSG00000197497	ENST00000396424	T	0.37752	1.18	2.55	-0.877	0.10621	.	.	.	.	.	T	0.41236	0.1150	L	0.39085	1.19	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.24225	-1.0166	9	0.72032	D	0.01	.	2.9711	0.05923	0.2112:0.2823:0.0:0.5065	.	578	Q9H7R5-2	.	P	578	ENSP00000379702:A578P	ENSP00000379702:A578P	A	-	1	0	ZNF665	58359823	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.077000	0.03416	0.005000	0.14708	-0.300000	0.09419	GCA		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		24	164	0	0	0	1	0	24	164					G	53668011	C	G	53668011	3	3	299	1	0	0	0	0	1	0	0	0	18070	797	28	4	308	4	ZNF665	19	53668011	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	11964219	53668011	5460972	78	30692											
NLRP11	204801	broad.mit.edu	37	chr19	56320376	56320376	+	Missense_Mutation	SNP	G	G	T													cgtcaacttttccgggtcacGgtccaaatgtttcatgtatc					rs115243845		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320376G>T	ENST00000589093.1	-	3	1693	c.1600C>A	c.(1600-1602)Cgt>Agt	p.R534S	NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000443188.1_Missense_Mutation_p.R534S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	534							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.R534C(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)		TCCGGGTCACGGTCCAAATGT	0.448																																						ENST00000443188.1																			1	Substitution - Missense(1)	p.R534C(1)	upper_aerodigestive_tract(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						c.(1600-1602)Cgt>Agt		NLR family, pyrin domain containing 11							160	150	153					19																	56320376		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320376G>T	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.1600C>A	19.37:g.56320376G>T	ENSP00000466285:p.Arg534Ser					NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000589093.1_Missense_Mutation_p.R534S	p.R534S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2310	-		Colorectal(82;0.0002)	534					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1600C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	0.418	-0.909620	0.02434	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74526	-0.85;-0.78	1.74	-3.47	0.04753	.	.	.	.	.	T	0.51092	0.1654	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.23018	0.013;0.043	T	0.36407	-0.9749	9	0.12103	T	0.63	.	3.6745	0.08287	0.0:0.2911:0.2226:0.4863	.	534;534	P59045;P59045-2	NAL11_HUMAN;.	S	534	ENSP00000409898:R534S;ENSP00000353251:R534S	ENSP00000353251:R534S	R	-	1	0	NLRP11	61012188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.971000	0.03564	-1.075000	0.02238	CGT		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		4	312	1	0	3.59834e-05	1	3.74343e-05	4	312					T	56320376	G	T	56320376	3	4	299	1	0	0	0	0	1	0	0	0	10473	1116	39	4	1533	4	NLRP11	19	56320376	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	2652365	56320376	2808607	79	30693	141	2									
NLRP11	204801	broad.mit.edu	37	chr19	56320377	56320377	+	Missense_Mutation	SNP	G	G	T													gtcaacttttccgggtcacgGtccaaatgtttcatgtatcc							TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320377G>T	ENST00000589093.1	-	3	1692	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E|NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000443188.1_Missense_Mutation_p.D533E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	533							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)		CCGGGTCACGGTCCAAATGTT	0.448																																						ENST00000443188.1																			0				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						c.(1597-1599)gaC>gaA		NLR family, pyrin domain containing 11							160	150	154					19																	56320377		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320377G>T	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.1599C>A	19.37:g.56320377G>T	ENSP00000466285:p.Asp533Glu					NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E|NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000589093.1_Missense_Mutation_p.D533E	p.D533E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2309	-		Colorectal(82;0.0002)	533					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1599C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	3.964	-0.009646	0.07727	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.73258	-0.73;-0.66	1.74	-2.59	0.06209	.	.	.	.	.	T	0.35856	0.0946	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.001	T	0.31558	-0.9939	9	0.02654	T	1	.	0.0795	0.00030	0.3025:0.2401:0.2198:0.2376	.	533;533	P59045;P59045-2	NAL11_HUMAN;.	E	533	ENSP00000409898:D533E;ENSP00000353251:D533E	ENSP00000353251:D533E	D	-	3	2	NLRP11	61012189	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.666000	0.05280	-0.791000	0.04486	-0.885000	0.02943	GAC		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		4	316	1	0	3.59834e-05	1	3.74343e-05	4	316					T	56320377	G	T	56320377	3	4	299	1	0	0	0	0	1	0	0	0	10473	1252	44	4	1534	4	NLRP11	19	56320377	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1	56320377	2808606	80	30694	141	2									
NLRP11	204801	broad.mit.edu	37	chr19	56321356	56321356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcctggccgtcaggcCagtccttggcgattagctca	14	12	2	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	ENST00000589093.1	-	3	713	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S|NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000443188.1_Missense_Mutation_p.W207S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	207	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)		GCCGTCAGGCCAGTCCTTGGC	0.498																																						ENST00000443188.1																			0				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						c.(619-621)tGg>tCg		NLR family, pyrin domain containing 11							94	89	91					19																	56321356		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321356C>G	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.620G>C	19.37:g.56321356C>G	ENSP00000466285:p.Trp207Ser					NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S|NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000589093.1_Missense_Mutation_p.W207S	p.W207S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1330	-		Colorectal(82;0.0002)	207			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.620G>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389255	0.42410	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.78595	-1.19;-1.19	2.48	2.48	0.30137	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.84629	0.5514	M	0.76938	2.355	0.40883	D	0.98401	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84403	0.0561	9	0.87932	D	0	.	5.2631	0.15584	0.0:0.8374:0.0:0.1626	.	207;207	P59045;P59045-2	NAL11_HUMAN;.	S	207	ENSP00000409898:W207S;ENSP00000353251:W207S	ENSP00000353251:W207S	W	-	2	0	NLRP11	61013168	0.553000	0.26513	0.676000	0.29932	0.045000	0.14185	0.717000	0.25851	1.696000	0.51158	0.609000	0.83330	TGG		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		44	66	0	0	0	1	0	44	66					G	56321356	C	G	56321356	3	3	299	1	0	0	0	0	1	0	0	0	10473	595	21	4	2513	4	NLRP11	19	56321356	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	979	56321356	2807627	81	30695											
ZNF551	90233	broad.mit.edu	37	chr19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgagaaatcctttagccGcaaatttatcctgattcaac	6	9	1	2	rs138423649		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					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)|large_intestine(5)|lung(4)|ovary(1)|prostate(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;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1456-1458)cGc>cAc		zinc finger protein 551		G	HIS/ARG	0,4406		0,0,2203	77	75	76		1409	-3.3	0	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF551	NM_138347.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	470/655	58199100	3,13003	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199100G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1457G>A	19.37:g.58199100G>A	ENSP00000282296:p.Arg486His					ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.R486H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1642	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	486					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1457G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.294|4.294	0.053749|0.053749	0.08291|0.08291	0.0|0.0	3.49E-4|3.49E-4	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.48|2.48	-3.34|-3.34	0.04943|0.04943	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.615670|.	0.00805|.	U|.	0.001456|.	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.06405	.|0.002	T|T	0.32534|0.32534	-0.9903|-0.9903	7|8	0.19590|0.13108	T|T	0.45|0.6	.|.	6.9251|6.9251	0.24410|0.24410	0.4892:0.0:0.5108:0.0|0.4892:0.0:0.5108:0.0	.|.	.|486	.|Q7Z340	.|ZN551_HUMAN	V|H	102|486;470;269	.|.	ENSP00000437781:A102V|ENSP00000282296:R470H	A|R	-|+	2|2	0|0	AC004017.1|ZNF551	62890912|62890912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-4.824000|-4.824000	0.00181|0.00181	-0.805000|-0.805000	0.04404|0.04404	-0.300000|-0.300000	0.09419|0.09419	GCG|CGC		0.423	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		4	147	0	0	0	1	0	4	147					A	58199100	G	A	58199100	3	1	299	1	0	0	0	0	1	0	0	0	17980	1087	38	1	1419	1	ZNF551	19	58199100	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1877744	58199100	929883	82	30696											
AHCY	191	broad.mit.edu	37	chr20	32873405	32873405	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaccctcggccagcaggatGatgcggcgcccattcttcaa	11	15	2	1	rs139344907		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	ENST00000217426.2	-	9	1085	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Silent_p.I308I	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	336					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						CCAGCAGGATGATGCGGCGCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15705	0.0		0.001	False		,,,				2504	0.0					ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(922-924)atC>atT		adenosylhomocysteinase		G	,	1,4405	2.1+/-5.4	0,1,2202	67	57	60		1008,924	4.2	1	20	dbSNP_134	60	16,8584	10.5+/-38.8	0,16,4284	no	coding-synonymous,coding-synonymous	AHCY	NM_000687.2,NM_001161766.1	,	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	,	336/433,308/405	32873405	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32873405G>A	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.1008C>T	20.37:g.32873405G>A						AHCY_ENST00000217426.2_Silent_p.I336I	p.I308I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			9	1310	-			336					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.924C>T	CCDS13233.1																																																																																				0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		9	134	0	0	0	1	0	9	134					A	32873405	G	A	32873405	2	1	299	1	0	0	0	0	0	0	0	1	409	1280	45	2		2	AHCY	20	32873405	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		32873405	30152115	83	30697											
RIPK4	54101	broad.mit.edu	37	chr21	43161012	43161012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagctaggtcttgcttcGccgcaggagcgtggcggcgg	17	12	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:43161012G>A	ENST00000352483.2	-	9	2549	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	829					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						GTCTTGCTTCGCCGCAGGAGC	0.672																																						ENST00000352483.2																			0				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						c.(2485-2487)Cga>Tga		receptor-interacting serine-threonine kinase 4							22	24	23					21																	43161012		2194	4270	6464	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161012G>A	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.2485C>T	21.37:g.43161012G>A	ENSP00000330161:p.Arg829*					RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*|AP001615.9_ENST00000423276.1_RNA	p.R829*			Q96T11	Q96T11_HUMAN			9	2549	-			781					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.2485C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.100704	0.76983	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.	.	.	4.8	1.8	0.24995	.	0.142088	0.31636	N	0.007309	.	.	.	.	.	.	0.21355	N	0.999714	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7071	3.6278	0.08120	0.0831:0.1329:0.4567:0.3272	.	.	.	.	X	781;829;718;718	.	ENSP00000332454:R781X	R	-	1	2	RIPK4	42034081	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.273000	0.18662	0.051000	0.15978	-0.137000	0.14449	CGA		0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		15	40	0	0	0	1	0	15	40					A	43161012	G	A	43161012	4	1	299	1	0	0	0	0	0	1	0	0	13383	1095	38	1	17	1	RIPK4	21	43161012	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		43161012	4968883	84	30698											
TRPM2	7226	broad.mit.edu	37	chr21	45846577	45846577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgacccacccttttacaCggcagagaggaaggacgcgg	12	12	0	2	rs113563173	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:45846577C>T	ENST00000397928.1	+	26	4275	c.3830C>T	c.(3829-3831)aCg>aTg	p.T1277M	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1277					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)	p.T1277M(1)		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						CCCTTTTACACGGCAGAGAGG	0.602													C|||	5	0.000998403	0.0	0.0014	5008	,	,		15705	0.003		0.0	False		,,,				2504	0.001					ENST00000397928.1																			1	Substitution - Missense(1)	p.T1277M(1)	prostate(1)	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						c.(3829-3831)aCg>aTg		transient receptor potential cation channel, subfamily M, member 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83	89	87		3830	4.5	0.6	21	dbSNP_132	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TRPM2	NM_003307.3	81	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	1277/1504	45846577	5,13001	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45846577C>T	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.3830C>T	21.37:g.45846577C>T	ENSP00000381023:p.Thr1277Met					TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M	p.T1277M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			26	4275	+			1277					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3830C>T	CCDS13710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.02	2.410966	0.42817	2.27E-4	4.65E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.46	4.46	0.54185	NUDIX hydrolase domain-like (1);	0.583692	0.16280	N	0.221408	D	0.88526	0.6460	M	0.89287	3.02	0.38009	D	0.934479	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.60886	0.88;0.88;0.88	D	0.91291	0.5059	10	0.54805	T	0.06	-17.7264	16.075	0.80962	0.0:1.0:0.0:0.0	.	1327;1063;1277	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1277;1277;1257;1327;55	ENSP00000300482:T1277M;ENSP00000381023:T1277M;ENSP00000300481:T1257M;ENSP00000381026:T1327M	ENSP00000300481:T1257M	T	+	2	0	TRPM2	44671005	0.133000	0.22466	0.646000	0.29493	0.017000	0.09413	1.393000	0.34497	2.206000	0.71126	0.655000	0.94253	ACG		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		18	107	0	0	0	1	0	18	107					T	45846577	C	T	45846577	3	4	299	1	0	0	0	0	1	0	0	0	16583	536	19	1	3932	1	TRPM2	21	45846577	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	2685565	45846577	2283318	85	30699											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620063	41620063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctttaggcagggcatgCggctggaagtggtggacaag	16	9	0	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:41620063C>T	ENST00000216237.5	+	9	1140	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					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						GCAGGGCATGCGGCTGGAAGT	0.597																																						ENST00000216237.5																			0				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						c.(982-984)Cgg>Tgg		l(3)mbt-like 2 (Drosophila)							119	79	92					22																	41620063		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620063C>T	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.982C>T	22.37:g.41620063C>T	ENSP00000216237:p.Arg328Trp						p.R328W	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1140	+			328					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.982C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587614	0.86851	.	.	ENSG00000100395	ENST00000216237	T	0.33654	1.4	5.41	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67296	-0.5706	10	0.72032	D	0.01	.	13.809	0.63250	0.2782:0.7217:0.0:0.0	.	328;328	Q969R5-3;Q969R5	.;LMBL2_HUMAN	W	328	ENSP00000216237:R328W	ENSP00000216237:R328W	R	+	1	2	L3MBTL2	39950009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.942000	0.40243	1.252000	0.44001	0.655000	0.94253	CGG		0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		3	76	0	0	0	1	0	3	76					T	41620063	C	T	41620063	3	4	299	1	0	0	0	0	1	0	0	0	8592	759	27	1	1016	1	L3MBTL2	22	41620063	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		41620063	9684503	86	30700											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656813	50656813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggaactgcacagagccgGccatgtggctcagcagggct	15	12	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:50656813G>A	ENST00000248846.5	-	23	5077	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1658					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACAGAGCCGGCCATGTGGCT	0.662																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(4972-4974)gCc>gTc		tubulin, gamma complex associated protein 6							35	36	36					22																	50656813		2196	4276	6472	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656813G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4973C>T	22.37:g.50656813G>A	ENSP00000248846:p.Ala1658Val					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR	p.A1658V			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	23	5077	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1658					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4973C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796294	0.50208	.	.	ENSG00000128159	ENST00000248846	T	0.08546	3.08	4.99	4.99	0.66335	.	1.201100	0.06627	U	0.758389	T	0.14227	0.0344	L	0.55481	1.735	0.58432	D	0.999999	P;P	0.38597	0.565;0.639	B;B	0.37015	0.239;0.194	T	0.33979	-0.9847	10	0.33141	T	0.24	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	1650;1658	B2RWN4;Q96RT7	.;GCP6_HUMAN	V	1658	ENSP00000248846:A1658V	ENSP00000248846:A1658V	A	-	2	0	TUBGCP6	48998940	0.961000	0.32948	0.026000	0.17262	0.708000	0.40852	4.924000	0.63418	2.319000	0.78375	0.591000	0.81541	GCC		0.662	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	81	0	0	0	1	0	3	81					A	50656813	G	A	50656813	3	1	299	1	0	0	0	0	1	0	0	0	16767	1203	42	2	498	2	TUBGCP6	22	50656813	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9036750	50656813	647753	87	30701											
SFRS17A	8227	broad.mit.edu	37	chrX	1720261	1720261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggccacgcaaggagcGgcggccccacaagaagcacg	16	14	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:1720261G>A	ENST00000313871.3	+	5	2058	c.1862G>A	c.(1861-1863)cGg>cAg	p.R621Q		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	621	Arg-rich.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGCAAGGAGCGGCGGCCCCAC	0.731																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(1861-1863)cGg>cAg		A kinase (PRKA) anchor protein 17A							18	28	25					X																	1720261		2184	4271	6455	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1720261G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1862G>A	X.37:g.1720261G>A	ENSP00000324827:p.Arg621Gln						p.R621Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			5	2058	+			621			Arg-rich.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1862G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607183	0.28623	.	.	ENSG00000197976	ENST00000313871	T	0.55234	0.53	1.41	1.41	0.22369	.	0.000000	0.34603	U	0.003834	T	0.34019	0.0883	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.17433	0.018	T	0.15694	-1.0428	9	0.44086	T	0.13	.	6.2489	0.20835	0.1668:0.0:0.8332:0.0	.	621	Q02040	AK17A_HUMAN	Q	621	ENSP00000324827:R621Q	ENSP00000324827:R621Q	R	+	2	0	AKAP17A	1680261	0.721000	0.28007	0.482000	0.27366	0.472000	0.32918	0.548000	0.23314	0.367000	0.24454	0.367000	0.22151	CGG		0.731	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	18	0	0	0	1	0	4	18					A	1720261	G	A	1720261	3	1	299	1	0	0	0	0	1	0	0	0	14173	1116	39	1	1876	1	SFRS17A	23	1720261	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1720261	153550299	88	30702											
APEX2	27301	broad.mit.edu	37	chrX	55033742	55033742	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggccacagggagccatgtgtGatgcgtactgtgaagaagcc	15	9	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	ENST00000374987.3	+	6	1497	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	477					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						AGCCATGTGTGATGCGTACTG	0.622								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(1429-1431)gtG>gtT	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							28	23	25					X																	55033742		2203	4300	6503	SO:0001819	synonymous_variant	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033742G>T	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.1431G>T	X.37:g.55033742G>T							p.V477V	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	1497	+			477					Q9Y5X7	Silent	SNP	ENST00000374987.3	37	c.1431G>T	CCDS14365.1																																																																																				0.622	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			21	37	1	0	2.37509e-13	1	2.5965e-13	21	37					T	55033742	G	T	55033742	2	4	299	1	0	0	0	0	0	0	0	1	770	1277	45	4		4	APEX2	23	55033742	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	53313481	55033742	100236818	89	30703											
ZMYM3	9203	broad.mit.edu	37	chrX	70464671	70464671	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcggggaaggtcttgttcaGtagacacatcctcaggccct	11	11	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	ENST00000353904.2	-	19	3267	c.3080C>G	c.(3079-3081)aCt>aGt	p.T1027S	ZMYM3_ENST00000373998.1_Missense_Mutation_p.T1015S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1027					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)	p.T1027fs*9(1)		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)					GTCTTGTTCAGTAGACACATC	0.478																																						ENST00000373998.1																			1	Deletion - Frameshift(1)	p.T1027fs*9(1)	prostate(1)	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						c.(3043-3045)aCt>aGt		zinc finger, MYM-type 3							80	56	64					X																	70464671		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70464671G>C	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.3080C>G	X.37:g.70464671G>C	ENSP00000343909:p.Thr1027Ser					ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.T1027S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S	p.T1015S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			19	3741	-	Renal(35;0.156)		1027					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3044C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	11.25	1.584491	0.28268	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43294	1.53;0.95;1.53;1.53;1.54	5.18	5.18	0.71444	.	0.183165	0.38605	N	0.001625	T	0.22627	0.0546	N	0.03608	-0.345	0.33007	D	0.527051	B;B	0.27117	0.168;0.105	B;B	0.29785	0.107;0.05	T	0.13176	-1.0519	10	0.09084	T	0.74	-2.3617	17.7983	0.88579	0.0:0.0:1.0:0.0	.	1015;1027	Q14202-2;Q14202	.;ZMYM3_HUMAN	S	1027;1015;1027;1029;1029	ENSP00000322845:T1027S;ENSP00000363110:T1015S;ENSP00000343909:T1027S;ENSP00000363096:T1029S;ENSP00000363100:T1029S	ENSP00000322845:T1027S	T	-	2	0	ZMYM3	70381396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.882000	0.75589	2.391000	0.81399	0.506000	0.49869	ACT		0.478	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		8	27	0	0	0	1	0	8	27					C	70464671	G	C	70464671	3	2	299	1	0	0	0	0	1	0	0	0	17698	1029	36	4	1060	4	ZMYM3	23	70464671	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	15430929	70464671	84805889	90	30704											
RPS4X	6191	broad.mit.edu	37	chrX	71493768	71493768	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgggcatcatgagtcaccaGatgagggattccttttgtgc	13	9	2	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	ENST00000316084.6	-	5	519	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	139					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438																																						ENST00000316084.6																			0				NS(1)|large_intestine(1)	2						c.(415-417)Ctg>Atg		ribosomal protein S4, X-linked							61	51	54					X																	71493768		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71493768G>T		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"S ribosomal proteins"	10424	protein-coding gene	gene with protein product	"40S ribosomal protein S4, X isoform", "ribosomal protein S4X isoform", "single-copy abundant mRNA", "cell cycle gene 2"	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.415C>A	X.37:g.71493768G>T	ENSP00000362744:p.Leu139Met					RPS4X_ENST00000486733.1_5'UTR	p.L139M	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN			5	519	-	Renal(35;0.156)		139					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.415C>A	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666767	0.67814	.	.	ENSG00000198034	ENST00000316084	D	0.88277	-2.36	4.34	1.56	0.23342	Ribosomal protein S4e, central (2);	0.000000	0.56097	D	0.000025	D	0.93112	0.7807	M	0.88842	2.985	0.80722	D	1	P	0.49783	0.928	P	0.61132	0.884	D	0.90865	0.4741	10	0.87932	D	0	.	7.368	0.26785	0.3174:0.0:0.6826:0.0	.	139	P62701	RS4X_HUMAN	M	139	ENSP00000362744:L139M	ENSP00000362744:L139M	L	-	1	2	RPS4X	71410493	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	2.305000	0.43664	-0.025000	0.13918	0.600000	0.82982	CTG		0.438	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007		24	48	1	0	1.96895e-08	1	2.13441e-08	24	48					T	71493768	G	T	71493768	3	4	299	1	0	0	0	0	1	0	0	0	13645	933	33	4	388	4	RPS4X	23	71493768	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1029097	71493768	83776792	91	30705											
CYLC1	1538	broad.mit.edu	37	chrX	83129576	83129576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctctaccatcaccaaaGgtcagacgtctttgttggtg	8	12	4	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	ENST00000329312.4	+	4	1897	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	620	Pro-rich.				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						CATCACCAAAGGTCAGACGTC	0.433																																						ENST00000329312.4																			0				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						c.(1858-1860)aaG>aaT		cylicin, basic protein of sperm head cytoskeleton 1							72	61	64					X																	83129576		2202	4299	6501	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129576G>T	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.1860G>T	X.37:g.83129576G>T	ENSP00000331556:p.Lys620Asn						p.K620N	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1897	+			620			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1860G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	1.687	-0.504963	0.04261	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.56941	0.43	3.48	2.6	0.31112	.	.	.	.	.	T	0.57344	0.2047	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.70016	0.952;0.967	T	0.46816	-0.9164	9	0.72032	D	0.01	-0.6308	8.93	0.35663	0.1255:0.0:0.8745:0.0	.	620;620	P35663;F5H4V5	CYLC1_HUMAN;.	N	620	ENSP00000331556:K620N	ENSP00000331556:K620N	K	+	3	2	CYLC1	83016232	0.037000	0.19845	0.003000	0.11579	0.024000	0.10985	0.717000	0.25851	0.317000	0.23160	-1.231000	0.01572	AAG		0.433	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		32	51	1	0	3.86903e-22	1	4.26585e-22	32	51					T	83129576	G	T	83129576	3	4	299	1	0	0	0	0	1	0	0	0	4141	991	35	4	1874	4	CYLC1	23	83129576	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	11635808	83129576	72140984	92	30706											
CPXCR1	53336	broad.mit.edu	37	chrX	88009269	88009269	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccatctgtggaaggctttTtaacacttactctgaattaa	6	9	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	ENST00000276127.4	+	3	1113	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	285							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(853-855)tTt>tAt		CPX chromosome region, candidate 1							43	43	43					X																	88009269		2202	4295	6497	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009269T>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.854T>A	X.37:g.88009269T>A	ENSP00000276127:p.Phe285Tyr					CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	p.F285Y	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	1113	+			285					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.854T>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793074	0.50102	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.03745	3.82;3.82	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.160723	0.29814	N	0.011131	T	0.07593	0.0191	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.21518	-1.0243	9	.	.	.	-6.8672	7.7566	0.28927	0.0:0.0:0.0:1.0	.	285	Q8N123	CPXCR_HUMAN	Y	285	ENSP00000276127:F285Y;ENSP00000362203:F285Y	.	F	+	2	0	CPXCR1	87895925	0.119000	0.22226	0.016000	0.15963	0.003000	0.03518	1.745000	0.38278	1.646000	0.50622	0.481000	0.45027	TTT		0.303	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		26	37	0	0	0	1	0	26	37					A	88009269	T	A	88009269	3	1	299	1	0	0	0	0	1	0	0	0	3836	1841	64	5	856	5	CPXCR1	23	88009269	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	4879693	88009269	67261291	93	30707											
NKRF	55922	broad.mit.edu	37	chrX	118724016	118724016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcggttaaactgagctgTgtcgttcagcgtgcacacgg	12	10	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	ENST00000371527.1	-	2	2024	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	NKRF_ENST00000304449.5_Missense_Mutation_p.T458A|NKRF_ENST00000542113.1_Missense_Mutation_p.T473A|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	458					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						AACTGAGCTGTGTCGTTCAGC	0.428																																						ENST00000371527.1																			0				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						c.(1372-1374)Aca>Gca		NFKB repressing factor							102	95	98					X																	118724016		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724016T>C	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.1372A>G	X.37:g.118724016T>C	ENSP00000360582:p.Thr458Ala					NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.T458A|NKRF_ENST00000542113.1_Missense_Mutation_p.T473A	p.T458A	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2024	-			458					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1372A>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048073	0.36085	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76186	-1.0;-1.0;-1.0	5.49	5.49	0.81192	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.65498	2.005	0.80722	D	1	P	0.39535	0.677	B	0.39904	0.313	T	0.75269	-0.3377	10	0.46703	T	0.11	-14.5382	13.7324	0.62797	0.0:0.0:0.0:1.0	.	458	O15226	NKRF_HUMAN	A	458;458;473	ENSP00000360582:T458A;ENSP00000304803:T458A;ENSP00000442308:T473A	ENSP00000304803:T458A	T	-	1	0	NKRF	118608044	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.661000	0.83786	1.839000	0.53478	0.486000	0.48141	ACA		0.428	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		52	138	0	0	0	1	0	52	138					C	118724016	T	C	118724016	3	2	299	1	0	0	0	0	1	0	0	0	10447	1696	59	3	704	3	NKRF	23	118724016	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	30714747	118724016	36546544	94	30708											
BCORL1	63035	broad.mit.edu	37	chrX	129147463	129147463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattcagggcttgttccaGtccaagttgccacttcggtt	9	13	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	ENST00000218147.7	+	4	912	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_ENST00000540052.1_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I|BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	239	Pro-rich.				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						GCTTGTTCCAGTCCAAGTTGC	0.637																																						ENST00000540052.1																			0				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						c.(715-717)Gtc>Atc		BCL6 corepressor-like 1							152	137	142					X																	129147463		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147463G>A	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.715G>A	X.37:g.129147463G>A	ENSP00000218147:p.Val239Ile					BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I|BCORL1_ENST00000218147.7_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I	p.V239I	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	759	+			239			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.715G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162859	0.38217	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.48836	0.82;1.2;0.8;0.82	3.33	3.33	0.38152	.	0.000000	0.32147	N	0.006508	T	0.23886	0.0578	N	0.08118	0	0.22940	N	0.998532	B;B	0.33171	0.4;0.279	B;B	0.30646	0.118;0.055	T	0.13308	-1.0514	9	.	.	.	-13.4409	10.8201	0.46599	0.0:0.1893:0.8107:0.0	.	239;239	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	I	239	ENSP00000218147:V239I;ENSP00000307541:V239I;ENSP00000352253:V239I;ENSP00000437775:V239I	.	V	+	1	0	BCORL1	128975144	0.003000	0.15002	1.000000	0.80357	0.948000	0.59901	0.835000	0.27531	1.917000	0.55516	0.436000	0.28706	GTC		0.637	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		92	163	0	0	0	1	0	92	163					A	129147463	G	A	129147463	3	1	299	1	0	0	0	0	1	0	0	0	1387	1029	36	2	725	2	BCORL1	23	129147463	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	10423447	129147463	26123097	95	30709											
SLC25A14	9016	broad.mit.edu	37	chrX	129498601	129498601	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcacttgtgtttcgtaGggtgtggttccaactgctca	11	8	2	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	ENST00000218197.5	+	7	821		c.e7-1		SLC25A14_ENST00000467496.1_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000543953.1_Splice_Site	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408																																						ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.e7-1		solute carrier family 25 (mitochondrial carrier, brain), member 14							200	150	167					X																	129498601		2203	4300	6503	SO:0001630	splice_region_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129498601G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.595-1G>A	X.37:g.129498601G>A						SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000467496.1_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000218197.5_Splice_Site				O95258	UCP5_HUMAN			7	538	+								D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Splice_Site	SNP	ENST00000218197.5	37		CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358404	0.61403	.	.	ENSG00000102078	ENST00000545805;ENST00000543953;ENST00000218197;ENST00000361980;ENST00000339231	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2746	0.82638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A14	129326282	1.000000	0.71417	0.994000	0.49952	0.685000	0.39939	8.752000	0.91632	2.361000	0.80049	0.544000	0.68410	.		0.408	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	Intron	36	89	0	0	0	1	0	36	89					A	129498601	G	A	129498601	5	1	299	1	0	0	0	0	0	0	1	0	14476	1014	35	2	620	2	SLC25A14	23	129498601	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	351138	129498601	25771959	96	30710											
IGSF1	3547	broad.mit.edu	37	chrX	130413285	130413285	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgaagagcatggtgacCccttgagctgttcccagcaa	10	11	0	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	ENST00000361420.3	-	10	1756	c.1677G>A	c.(1675-1677)ggG>ggA	p.G559G	IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000370904.1_Silent_p.G550G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	559					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						GCATGGTGACCCCTTGAGCTG	0.617																																						ENST00000370904.1																			0				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						c.(1648-1650)ggG>ggA		immunoglobulin superfamily, member 1							56	50	52					X																	130413285		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130413285C>T	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.1677G>A	X.37:g.130413285C>T						IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000361420.3_Silent_p.G559G	p.G550G			Q8N6C5	IGSF1_HUMAN			16	2560	-			559					B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1650G>A	CCDS14629.1																																																																																				0.617	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			25	56	0	0	0	1	0	25	56					T	130413285	C	T	130413285	2	4	299	1	0	0	0	0	0	0	0	1	7596	610	22	2		2	IGSF1	23	130413285	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	914684	130413285	24857275	97	30711											
IGSF1	3547	broad.mit.edu	37	chrX	130415782	130415782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccgtttactgagaatttTtggaatgtttctctttcttc	6	8	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	ENST00000361420.3	-	8	1462	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q452H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	461	Ig-like C2-type 5.				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						CTGAGAATTTTTGGAATGTTT	0.453																																						ENST00000370904.1																			0				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						c.(1354-1356)caA>caC		immunoglobulin superfamily, member 1							136	103	114					X																	130415782		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130415782T>G	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.1383A>C	X.37:g.130415782T>G	ENSP00000355010:p.Gln461His					IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q461H	p.Q452H			Q8N6C5	IGSF1_HUMAN			14	2266	-			461			Ig-like C2-type 5.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1356A>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	3.811	-0.039752	0.07497	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	4.35	0.42	0.16444	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.781155	0.11656	N	0.542290	T	0.02888	0.0086	L	0.45228	1.405	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.48234	-0.9053	10	0.21014	T	0.42	.	0.8549	0.01180	0.1995:0.1133:0.2028:0.4843	.	452;461	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	452;461;452;461	ENSP00000359947:Q452H;ENSP00000355010:Q461H;ENSP00000359941:Q452H;ENSP00000359940:Q461H	ENSP00000355010:Q461H	Q	-	3	2	IGSF1	130243463	0.807000	0.29009	0.001000	0.08648	0.922000	0.55478	0.423000	0.21313	-0.022000	0.13986	0.481000	0.45027	CAA		0.453	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			41	51	0	0	0	1	0	41	51					G	130415782	T	G	130415782	3	3	299	1	0	0	0	0	1	0	0	0	7596	1838	64	5	2694	5	IGSF1	23	130415782	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	2497	130415782	24854778	98	30712											
AADACL4	343066	broad.mit.edu	37	chr1	12726312	12726312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccattgacctctcctggCgtgacgccatcttgaacggc	11	14	2	3	rs560787141		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:12726312C>T	ENST00000376221.1	+	4	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCTCTCCTGGCGTGACGCCAT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0					ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(790-792)Cgt>Tgt		arylacetamide deacetylase-like 4							141	138	139					1																	12726312		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726312C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.790C>T	1.37:g.12726312C>T	ENSP00000365395:p.Arg264Cys						p.R264C	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	790	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	264						Missense_Mutation	SNP	ENST00000376221.1	37	c.790C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047875	0.36085	.	.	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	-8.76	0.00830	.	3.304730	0.00815	N	0.001532	T	0.37404	0.1002	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.11329	0.006	T	0.15263	-1.0443	10	0.38643	T	0.18	0.0023	4.8917	0.13730	0.4488:0.3735:0.0779:0.0998	.	264	Q5VUY2	ADCL4_HUMAN	C	264	ENSP00000365395:R264C	ENSP00000365395:R264C	R	+	1	0	AADACL4	12648899	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-6.793000	0.00053	-2.115000	0.00831	-1.014000	0.02459	CGT		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		19	102	0	0	0	1	0	19	102					T	12726312	C	T	12726312	3	4	300	1	0	0	0	0	1	0	0	0	13	768	27	1	804	1	AADACL4	1	12726312	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		12726312	236524309	1	30713											
ANGPTL3	27329	broad.mit.edu	37	chr1	63063515	63063517	+	In_Frame_Del	DEL	AAG	AAG	-													gctgcaaaccagtgaaatcaAagaagaagaaaaggaactga					rs537365761	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:63063515_63063517delAAG	ENST00000371129.3	+	1	358_360	c.278_280delAAG	c.(277-282)aaagaa>aaa	p.E96del	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	96					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGTGAAATCAAAGAAGAAGAAAA	0.325														4	0.000798722	0.003	0.0	5008	,	,		18166	0.0		0.0	False		,,,				2504	0.0					ENST00000371129.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(277-282)aaa>a		angiopoietin-like 3			,	14,4250		7,0,2125					,	4.6	1			64	17,8235		7,3,4116	no	intron,coding	ANGPTL3,DOCK7	NM_033407.2,NM_014495.2	,	14,3,6241	A1A1,A1R,RR		0.206,0.3283,0.2477	,	,		31,12485				SO:0001651	inframe_deletion	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63063515_63063517delAAG	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"Fibrinogen C domain containing"	491	protein-coding gene	gene with protein product	"angiopoietin 5"	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.278_280delAAG	1.37:g.63063521_63063523delAAG	ENSP00000360170:p.Glu96del					DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	p.KE93del	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN			1	358_360	+			93					A0JLS0|B1ALJ0|B2RCW1	In_Frame_Del	DEL	ENST00000371129.3	37	c.278_280delAAG	CCDS622.1																																																																																				0.325	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		24	14						24	14	---	---	---	---	-	63063517	AAG	-	63063515	7	5	300	1	0	1	0	1	0	0	0	0	615	14	1	0	280	0	ANGPTL3	1	63063515	In_Frame_Del	DEL	AAG	TCGA-HT-8105-01A-11D-2395-08	50337203	63063515	186187106	2	30714											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-													ctcacaccaatcttttcttcTatgagttgccgagcatagtc					rs369776228		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1327-1329)afs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428470_78428471delTA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	p.I443fs			Q96AE4	FUBP1_HUMAN			14	1415_1416	-			443			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1328_1329delTA	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		30	9						30	9	---	---	---	---	-	78428471	TA	-	78428470	7	5	300	1	0	1	0	1	0	0	0	0	6092	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-HT-8105-01A-11D-2395-08	15364955	78428470	170822151	3	30715											
HSD3B2	3284	broad.mit.edu	37	chr1	119965057	119965057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccaatttactcctatcaAccccccttcaaccgccacac	2	20	2	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:119965057A>C	ENST00000543831.1	+	4	1182	c.933A>C	c.(931-933)caA>caC	p.Q311H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Q311H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	311					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	ACTCCTATCAACCCCCCTTCA	0.483																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(931-933)caA>caC		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						93	94	94					1																	119965057		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965057A>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.933A>C	1.37:g.119965057A>C	ENSP00000445122:p.Gln311His					HSD3B2_ENST00000369416.3_Missense_Mutation_p.Q311H	p.Q311H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	1182	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	311					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.933A>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	1.211	-0.629658	0.03610	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	T;T	0.69685	-0.42;-0.42	4.1	-3.31	0.04988	.	1.015210	0.07893	N	0.971428	T	0.27731	0.0682	L	0.36672	1.1	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	9	.	.	.	-16.5012	6.4546	0.21922	0.2625:0.4216:0.3159:0.0	.	311	P26439	3BHS2_HUMAN	H	311	ENSP00000445122:Q311H;ENSP00000358424:Q311H	.	Q	+	3	2	HSD3B2	119766580	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-2.258000	0.01179	-0.339000	0.08401	0.248000	0.18094	CAA		0.483	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		4	37	0	0	0	1	0	4	37					C	119965057	A	C	119965057	3	2	300	1	0	0	0	0	1	0	0	0	7391	40	2	5	943	5	HSD3B2	1	119965057	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	41536587	119965057	129285564	4	30716											
FLG	2312	broad.mit.edu	37	chr1	152280704	152280704	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccagtgagtgtctagAgctgtcggcccaagaggaag	14	11	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:152280704A>G	ENST00000368799.1	-	3	6693	c.6658T>C	c.(6658-6660)Tct>Cct	p.S2220P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2220	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)			GAGTGTCTAGAGCTGTCGGCC	0.552									Ichthyosis																													ENST00000368799.1																			0				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						c.(6658-6660)Tct>Cct		filaggrin							301	283	289					1																	152280704		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280704A>G	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.6658T>C	1.37:g.152280704A>G	ENSP00000357789:p.Ser2220Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2220P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6693	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2220			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6658T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	4.499	0.092541	0.08632	.	.	ENSG00000143631	ENST00000368799	T	0.09163	3.01	1.91	-1.3	0.09259	.	.	.	.	.	T	0.04048	0.0113	M	0.83312	2.635	0.09310	N	1	P	0.49185	0.92	B	0.36464	0.225	T	0.24905	-1.0147	9	0.48119	T	0.1	.	3.0119	0.06047	0.3244:0.4652:0.0:0.2104	.	2220	P20930	FILA_HUMAN	P	2220	ENSP00000357789:S2220P	ENSP00000357789:S2220P	S	-	1	0	FLG	150547328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.494000	0.22467	-0.272000	0.09259	0.352000	0.21897	TCT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	434	0	0	0	1	0	5	434					G	152280704	A	G	152280704	3	3	300	1	0	0	0	0	1	0	0	0	5922	304	11	3	5531	3	FLG	1	152280704	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	32315647	152280704	96969917	5	30717											
SCYL3	57147	broad.mit.edu	37	chr1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													ggtgtggcctgagaaactttAcaaacagtttccattcctcc							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:169845143_169845146delACAA	ENST00000367770.1	-	3	485_488	c.438_441delTTGT	c.(436-441)gtttgtfs	p.VC146fs	SCYL3_ENST00000367772.4_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Frame_Shift_Del_p.VC146fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(436-441)gtfs		SCY1-like 3 (S. cerevisiae)																																				SO:0001589	frameshift_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169845143_169845146delACAA	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.438_441delTTGT	1.37:g.169845143_169845146delACAA	ENSP00000356744:p.Val146fs					SCYL3_ENST00000367770.1_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000367771.5_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000470238.1_5'UTR	p.VC146fs	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			4	635_638	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		146			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Frame_Shift_Del	DEL	ENST00000367770.1	37	c.438_441delTTGT	CCDS1287.1																																																																																				0.441	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		17	46						17	46	---	---	---	---	-	169845146	ACAA	-	169845143	7	5	300	1	0	1	0	1	0	0	0	0	13949	389	14	0	1831	0	SCYL3	1	169845143	Frame_Shift_Del	DEL	ACAA	TCGA-HT-8105-01A-11D-2395-08	17564439	169845143	79405478	6	30718											
CNTN2	6900	broad.mit.edu	37	chr1	205030440	205030440	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtggaccacagctgagCccaccctgcagatccccagc	10	18	0	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:205030440C>G	ENST00000331830.4	+	8	1149	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	289	Ig-like C2-type 3.				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)			CACAGCTGAGCCCACCCTGCA	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				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						c.(865-867)Ccc>Gcc		contactin 2 (axonal)							86	66	73					1																	205030440		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205030440C>G	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.865C>G	1.37:g.205030440C>G	ENSP00000330633:p.Pro289Ala		OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2149		p.P289A	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		8	1149	+	all_cancers(21;0.144)|Breast(84;0.0437)		289			Ig-like C2-type 3.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.865C>G	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790577	0.16258	.	.	ENSG00000184144	ENST00000331830	T	0.64260	-0.09	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000061	T	0.37156	0.0993	N	0.01686	-0.76	0.58432	D	0.999997	B;B;B	0.17667	0.023;0.023;0.011	B;B;B	0.28991	0.097;0.097;0.049	T	0.42378	-0.9455	10	0.02654	T	1	.	18.6039	0.91259	0.0:1.0:0.0:0.0	.	289;289;180	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	A	289	ENSP00000330633:P289A	ENSP00000330633:P289A	P	+	1	0	CNTN2	203297063	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.625000	0.46452	2.510000	0.84645	0.467000	0.42956	CCC		0.647	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		4	61	0	0	0	1	0	4	61					G	205030440	C	G	205030440	3	3	300	1	0	0	0	0	1	0	0	0	3641	739	26	4	891	4	CNTN2	1	205030440	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	35185297	205030440	44220181	7	30719											
C1orf131	8443	broad.mit.edu	37	chr1	231374902	231374904	+	5'Flank	DEL	TCT	TCT	-													gttttcccttttctttatgaTcttcttctgttctgtttcac							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:231374902_231374904delTCT	ENST00000366647.4	+	0	0				C1orf131_ENST00000366651.3_In_Frame_Del_p.K50del|C1orf131_ENST00000318906.2_In_Frame_Del_p.K50del|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366649.2_In_Frame_Del_p.K50del	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						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)				TTCTTTATGATCTTCTTCTGTTC	0.424																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(148-153)atc>a		chromosome 1 open reading frame 131																																				SO:0001631	upstream_gene_variant	128061							g.chr1:231374902_231374904delTCT	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		1.37:g.231374908_231374910delTCT	Exception_encountered					C1orf131_ENST00000366649.2_In_Frame_Del_p.KI50del|C1orf131_ENST00000366651.3_In_Frame_Del_p.KI50del|C1orf131_ENST00000471936.1_5'UTR	p.KI50del			Q8NDD1	CA131_HUMAN			2	177_179	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	50					B4DNM9|Q5TBH7|Q9BWC2	In_Frame_Del	DEL	ENST00000366647.4	37	c.149_151delAGA	CCDS1592.1																																																																																				0.424	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			10	65						10	65	---	---	---	---	-	231374904	TCT	-	231374902	6	5	300	0	1	1	0	1	0	0	0	0	1998	1435	50	0		0	C1orf131	1	231374902	5'Flank	DEL	TCT	TCGA-HT-8105-01A-11D-2395-08	26344462	231374902	17875719	8	30720											
ALS2	57679	broad.mit.edu	37	chr2	202619251	202619251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcgccgtgccccaGctgcccttccttccctttcc	6	20	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:202619251G>A	ENST00000264276.6	-	6	1987	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	539					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						CCGTGCCCCAGCTGCCCTTCC	0.517																																						ENST00000264276.6																			0				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						c.(1615-1617)Ctg>Ttg		amyotrophic lateral sclerosis 2 (juvenile)							114	117	116					2																	202619251		1973	4150	6123	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202619251G>A	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.1615C>T	2.37:g.202619251G>A							p.L539L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			6	1987	-			539					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.1615C>T	CCDS42800.1																																																																																				0.517	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		11	128	0	0	0	1	0	11	128					A	202619251	G	A	202619251	2	1	300	1	0	0	0	0	0	0	0	1	550	962	34	2		2	ALS2	2	202619251	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		202619251	40580122	9	30721											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	32	0	0	0	1	0	23	32					T	209113112	C	T	209113112	3	4	300	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	6493861	209113112	34086261	10	30722											
KIAA1486	57624	broad.mit.edu	37	chr2	226446836	226446836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccagatgggcagccccGcgggagaccccgaggaagag	16	13	0	3	rs551352616		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:226446836G>A	ENST00000272907.6	+	4	1116	c.703G>A	c.(703-705)Gcg>Acg	p.A235T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	235					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGCAGCCCCGCGGGAGACCC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		14598	0.0		0.0	False		,,,				2504	0.001					ENST00000272907.6																			0											c.(703-705)Gcg>Acg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							98	105	103					2																	226446836		1890	4098	5988	SO:0001583	missense	57624							g.chr2:226446836G>A	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.703G>A	2.37:g.226446836G>A	ENSP00000272907:p.Ala235Thr					NYAP2_ENST00000409269.2_Intron	p.A235T	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1116	+			235					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.703G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790210	0.70337	.	.	ENSG00000144460	ENST00000272907	T	0.42513	0.97	5.9	4.07	0.47477	.	0.176558	0.48767	D	0.000171	T	0.62792	0.2457	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65792	-0.6082	10	0.62326	D	0.03	-16.5714	15.4634	0.75377	0.0:0.0:0.7468:0.2532	.	235	Q9P242	K1486_HUMAN	T	235	ENSP00000272907:A235T	ENSP00000272907:A235T	A	+	1	0	KIAA1486	226155080	0.999000	0.42202	0.997000	0.53966	0.828000	0.46876	4.803000	0.62546	0.814000	0.34374	0.644000	0.83932	GCG		0.597	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		104	105	0	0	0	1	0	104	105					A	226446836	G	A	226446836	3	1	300	1	0	0	0	0	1	0	0	0	8237	1087	38	1	713	1	KIAA1486	2	226446836	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17333724	226446836	16752537	11	30723											
ARMC9	80210	broad.mit.edu	37	chr2	232079592	232079592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagaccagaaggtgttcttcGatctgtgggaggagcacatt	14	7	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:232079592G>T	ENST00000349938.4	+	4	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	76						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)		GGTGTTCTTCGATCTGTGGGA	0.453																																						ENST00000349938.4																			0				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						c.(226-228)Gat>Tat		armadillo repeat containing 9							155	138	144					2																	232079592		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232079592G>T	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.226G>T	2.37:g.232079592G>T	ENSP00000258417:p.Asp76Tyr					ARMC9_ENST00000483477.1_3'UTR	p.D76Y	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	4	420	+		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)	76					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.226G>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737813	0.30774	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.44083	2.25;0.93	5.81	-6.69	0.01772	.	1.588750	0.03448	N	0.210316	T	0.27384	0.0672	N	0.22421	0.69	0.09310	N	1	P	0.40875	0.731	B	0.36922	0.236	T	0.43310	-0.9399	10	0.59425	D	0.04	-3.0E-4	10.4709	0.44635	0.2392:0.3288:0.432:0.0	.	76	Q7Z3E5	ARMC9_HUMAN	Y	76	ENSP00000258417:D76Y;ENSP00000387391:D76Y	ENSP00000258417:D76Y	D	+	1	0	ARMC9	231787836	0.005000	0.15991	0.000000	0.03702	0.101000	0.19017	0.160000	0.16462	-1.414000	0.02025	-1.148000	0.01847	GAT		0.453	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		20	52	1	0	7.41877e-09	1	7.70411e-09	20	52					T	232079592	G	T	232079592	3	4	300	1	0	0	0	0	1	0	0	0	958	1058	37	4	236	4	ARMC9	2	232079592	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	5632756	232079592	11119781	12	30724											
GRM7	2917	broad.mit.edu	37	chr3	7503380	7503380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgggttaccgtctgatcGggcagtggacagacgaactt	13	11	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:7503380G>A	ENST00000357716.4	+	7	1760	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000403881.1_Missense_Mutation_p.G496R|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R|GRM7_ENST00000486284.1_Missense_Mutation_p.G496R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	496					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						CCGTCTGATCGGGCAGTGGAC	0.468																																						ENST00000486284.1																			0				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						c.(1486-1488)Ggg>Agg		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						156	144	148					3																	7503380		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7503380G>A	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.1486G>A	3.37:g.7503380G>A	ENSP00000350348:p.Gly496Arg					GRM7_ENST00000403881.1_Missense_Mutation_p.G496R|GRM7_ENST00000357716.4_Missense_Mutation_p.G496R|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R|GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000458641.2_3'UTR	p.G496R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			7	1760	+			496					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1486G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983214	0.93044	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.81341	2.54	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;0.999;0.967	D	0.98221	1.0478	10	0.87932	D	0	.	18.4043	0.90528	0.0:0.0:1.0:0.0	.	496;251;496;496	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	R	496;496;496;496;496;496;496;153	ENSP00000350348:G496R;ENSP00000417536:G496R;ENSP00000373987:G496R;ENSP00000385664:G496R;ENSP00000384585:G496R;ENSP00000395035:G153R	ENSP00000350348:G496R	G	+	1	0	GRM7	7478380	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GGG		0.468	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		66	106	0	0	0	1	0	66	106					A	7503380	G	A	7503380	3	1	300	1	0	0	0	0	1	0	0	0	6802	1116	39	1	1512	1	GRM7	3	7503380	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7503380	190519050	13	30725											
GOLGA4	2803	broad.mit.edu	37	chr3	37402755	37402755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacttcacctcgcagtggtAtcttctgagtaaaccatcag	7	11	4	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:37402755A>G	ENST00000361924.2	+	23	7059	c.6685A>G	c.(6685-6687)Atc>Gtc	p.I2229V	GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2229					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						TCGCAGTGGTATCTTCTGAGT	0.353																																						ENST00000361924.2																			0				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						c.(6685-6687)Atc>Gtc		golgin A4							185	160	168					3																	37402755		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37402755A>G	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.6685A>G	3.37:g.37402755A>G	ENSP00000354486:p.Ile2229Val					GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	p.I2229V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			23	7059	+			2229					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6685A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673577	0.47781	.	.	ENSG00000144674	ENST00000361924	T	0.24908	1.83	5.7	4.52	0.55395	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	B	0.43950	0.437	T	0.05971	-1.0853	9	0.87932	D	0	.	12.939	0.58331	0.8646:0.1354:0.0:0.0	.	2229	Q13439	GOGA4_HUMAN	V	2229	ENSP00000354486:I2229V	ENSP00000354486:I2229V	I	+	1	0	GOLGA4	37377759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.894000	0.56250	0.971000	0.38288	0.460000	0.39030	ATC		0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		9	57	0	0	0	1	0	9	57					G	37402755	A	G	37402755	3	3	300	1	0	0	0	0	1	0	0	0	6555	449	16	3	6845	3	GOLGA4	3	37402755	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	29899375	37402755	160619675	14	30726											
CELSR3	1951	broad.mit.edu	37	chr3	48699364	48699365	+	Frame_Shift_Ins	INS	-	-	G													agatcccgaggcccctggaaINSgacagttccgccggggggct							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:48699364_48699365insG	ENST00000164024.4	-	1	983_984	c.703_704insC	c.(703-705)cttfs	p.L235fs	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.L235fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	235					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)		GGCCCCTGGAAGACAGTTCCGC	0.658																																						ENST00000544264.1																			0				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						c.(703-705)tccfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699364_48699365insG	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.704dupC	3.37:g.48699365_48699365dupG	ENSP00000164024:p.Leu235fs					CELSR3_ENST00000164024.4_Frame_Shift_Ins_p.S235fs	p.S235fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	983_984	-			235					O75092	Frame_Shift_Ins	INS	ENST00000164024.4	37	c.703_704insC	CCDS2775.1																																																																																				0.658	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		69	120						69	120	---	---	---	---	G	48699365	-	G	48699364	7	5	300	1	0	1	1	0	0	0	0	0	3223	72	3	0	9374	0	CELSR3	3	48699364	Frame_Shift_Ins	INS	-	TCGA-HT-8105-01A-11D-2395-08	11296609	48699364	149323066	15	30727											
PDZRN3	23024	broad.mit.edu	37	chr3	73433161	73433161	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taggcgctgcccagcttctgGctgggcgtggggctccggct	17	13	1	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:73433161G>C	ENST00000263666.4	-	10	2670	c.2556C>G	c.(2554-2556)agC>agG	p.S852R	PDZRN3_ENST00000466780.1_Missense_Mutation_p.S509R|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S574R|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S509R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S569R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	852					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGCTTCTGGCTGGGCGTGG	0.662																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2554-2556)agC>agG		PDZ domain containing ring finger 3							43	48	47					3																	73433161		2202	4300	6502	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433161G>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2556C>G	3.37:g.73433161G>C	ENSP00000263666:p.Ser852Arg					PDZRN3_ENST00000535920.1_Missense_Mutation_p.S574R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S509R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S509R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S569R	p.S852R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2670	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	852					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2556C>G	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.393643	0.01175	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09255	3.0;3.7;3.58;3.58;3.7	4.83	2.92	0.33932	.	1.958330	0.01884	N	0.038032	T	0.08891	0.0220	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.20671	0.005;0.047;0.014;0.013	B;B;B;B	0.19148	0.009;0.024;0.011;0.015	T	0.34453	-0.9828	10	0.15066	T	0.55	.	4.5543	0.12130	0.289:0.1706:0.5404:0.0	.	574;569;569;852	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	R	852;574;509;509;569	ENSP00000263666:S852R;ENSP00000442026:S574R;ENSP00000418168:S509R;ENSP00000418484:S509R;ENSP00000418624:S569R	ENSP00000263666:S852R	S	-	3	2	PDZRN3	73515851	0.000000	0.05858	0.008000	0.14137	0.489000	0.33432	0.191000	0.17076	0.937000	0.37394	0.655000	0.94253	AGC		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	141	0	0	0	1	0	5	141					C	73433161	G	C	73433161	3	2	300	1	0	0	0	0	1	0	0	0	11709	1194	42	4	648	4	PDZRN3	3	73433161	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	24733797	73433161	124589269	16	30728											
ROBO2	6092	broad.mit.edu	37	chr3	77595545	77595545	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgctcaaggtcgaacaGtgacatttccctgtgaaact	9	9	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:77595545G>C	ENST00000461745.1	+	7	1891	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L	ROBO2_ENST00000487694.3_Missense_Mutation_p.V347L|ROBO2_ENST00000332191.8_Missense_Mutation_p.V331L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	331	Ig-like C2-type 4.				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)		AGGTCGAACAGTGACATTTCC	0.433																																						ENST00000461745.1																			0				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						c.(991-993)Gtg>Ctg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							202	194	196					3																	77595545		1852	4101	5953	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77595545G>C	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.991G>C	3.37:g.77595545G>C	ENSP00000417164:p.Val331Leu					ROBO2_ENST00000332191.8_Missense_Mutation_p.V331L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V347L	p.V331L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		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)	7	1891	+			331			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.991G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652569	0.67472	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.76839	-1.05;-1.05;-1.05	5.66	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000906	T	0.79930	0.4531	L	0.49513	1.565	0.41430	D	0.987859	P;P;P	0.40230	0.576;0.521;0.708	P;B;P	0.49477	0.457;0.328;0.612	D	0.84993	0.0895	9	0.62326	D	0.03	.	14.0202	0.64550	0.0723:0.0:0.9277:0.0	.	347;331;331	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	347;347;351;331;331;52	ENSP00000417335:V347L;ENSP00000417164:V331L;ENSP00000327536:V331L	ENSP00000327536:V331L	V	+	1	0	ROBO2	77678235	1.000000	0.71417	0.998000	0.56505	0.264000	0.26372	8.022000	0.88759	2.672000	0.90937	0.591000	0.81541	GTG		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		4	269	0	0	0	1	0	4	269					C	77595545	G	C	77595545	3	2	300	1	0	0	0	0	1	0	0	0	13514	1029	36	4	1019	4	ROBO2	3	77595545	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	4162384	77595545	120426885	17	30729											
OR5H14	403273	broad.mit.edu	37	chr3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcaagatacagttgttttCgtttgcaatcagtgtaacca	8	7	1	1	rs370923244		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393																																						ENST00000437310.1																			1	Substitution - Missense(1)	p.S103L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(307-309)tCg>tTg		olfactory receptor, family 5, subfamily H, member 14		C	LEU/SER	1,4395	2.1+/-5.4	0,1,2197	198	204	202		308	0.9	0	3		202	0,8598		0,0,4299	no	missense	OR5H14	NM_001005514.1	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	103/311	97868537	1,12993	2198	4299	6497	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868537C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.308C>T	3.37:g.97868537C>T	ENSP00000401706:p.Ser103Leu						p.S103L	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	368	+			103					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.308C>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	5.956	0.360362	0.11296	2.27E-4	0.0	ENSG00000236032	ENST00000437310	T	0.00382	7.61	2.49	0.873	0.19118	GPCR, rhodopsin-like superfamily (1);	0.149335	0.31566	N	0.007432	T	0.00109	0.0003	N	0.00760	-1.21	0.09310	N	1	B	0.24317	0.101	B	0.17098	0.017	T	0.30679	-0.9970	10	0.39692	T	0.17	.	4.1872	0.10404	0.0:0.5102:0.0:0.4897	.	103	A6NHG9	O5H14_HUMAN	L	103	ENSP00000401706:S103L	ENSP00000401706:S103L	S	+	2	0	OR5H14	99351227	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	-0.106000	0.10890	0.365000	0.24400	0.195000	0.17529	TCG		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			84	31	0	0	0	1	0	84	31					T	97868537	C	T	97868537	3	4	300	1	0	0	0	0	1	0	0	0	11160	893	31	1	310	1	OR5H14	3	97868537	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	20272992	97868537	100153893	18	30730											
PLCH1	23007	broad.mit.edu	37	chr3	155200026	155200026	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtttcataaactgtgttCgttgcatgtttggtggtctc	11	6	2	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:155200026C>T	ENST00000340059.7	-	23	3812	c.3813G>A	c.(3811-3813)acG>acA	p.T1271T	PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.T1233T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					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)	p.T1233T(1)|p.T1271T(1)		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)			AAACTGTGTTCGTTGCATGTT	0.468																																						ENST00000460012.1																			2	Substitution - coding silent(2)	p.T1233T(1)|p.T1271T(1)	lung(2)	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						c.(3697-3699)acG>acA		phospholipase C, eta 1							172	170	171					3																	155200026		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200026C>T	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.3813G>A	3.37:g.155200026C>T						PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000334686.6_Silent_p.T1233T	p.T1233T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4056	-			1271					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.3699G>A	CCDS46939.1																																																																																				0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		74	90	0	0	0	1	0	74	90					T	155200026	C	T	155200026	2	4	300	1	0	0	0	0	0	0	0	1	12037	871	31	1		1	PLCH1	3	155200026	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	57331489	155200026	42822404	19	30731											
LRRC31	79782	broad.mit.edu	37	chr3	169558001	169558001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctttgaggaaccgcacGttttggcagaacatggtcca	11	10	1	2	rs547156232		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:169558001G>A	ENST00000316428.5	-	9	1485	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	LRRC31_ENST00000264676.5_Silent_p.N420N|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	476										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)			GGAACCGCACGTTTTGGCAGA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18897	0.0		0.0	False		,,,				2504	0.001					ENST00000316428.5																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1426-1428)aaC>aaT		leucine rich repeat containing 31							138	128	131					3																	169558001		1996	4165	6161	SO:0001819	synonymous_variant	79782							g.chr3:169558001G>A	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.1428C>T	3.37:g.169558001G>A						LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Silent_p.N420N	p.N476N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1485	-	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)		476					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	ENST00000316428.5	37	c.1428C>T	CCDS43167.1																																																																																				0.473	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		4	98	0	0	0	1	0	4	98					A	169558001	G	A	169558001	2	1	300	1	0	0	0	0	0	0	0	1	8986	1136	40	1		1	LRRC31	3	169558001	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	14357975	169558001	28464429	20	30732											
SLC6A3	6531	broad.mit.edu	37	chr5	1409222	1409222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatggtccaggagcgTgaagacgtagatgccaccct	12	10	0	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr5:1409222T>G	ENST00000270349.9	-	11	1544	c.1417A>C	c.(1417-1419)Acg>Ccg	p.T473P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	473					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCAGGAGCGTGAAGACGTAG	0.582																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1417-1419)Acg>Ccg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						57	50	52					5																	1409222		2201	4297	6498	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409222T>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1417A>C	5.37:g.1409222T>G	ENSP00000270349:p.Thr473Pro					SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		11	1544	-			473					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1417A>C	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.857024	0.32791	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74632	-0.86;-0.86	3.65	3.65	0.41850	.	0.168606	0.51477	D	0.000096	T	0.77425	0.4128	M	0.86178	2.8	0.52099	D	0.999948	B	0.27700	0.186	B	0.35688	0.208	T	0.77202	-0.2674	10	0.42905	T	0.14	.	10.5502	0.45083	0.0:0.0:0.0:1.0	.	473	Q01959	SC6A3_HUMAN	P	473	ENSP00000270349:T473P;ENSP00000399806:T473P	ENSP00000270349:T473P	T	-	1	0	SLC6A3	1462222	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.249000	0.58766	1.661000	0.50771	0.454000	0.30748	ACG		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		11	13	0	0	0	1	0	11	13					G	1409222	T	G	1409222	3	3	300	1	0	0	0	0	1	0	0	0	14685	1696	59	5	465	5	SLC6A3	5	1409222	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08		1409222	179506038	21	30733											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056630	26056630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaggaggcgcggcagcGggagcggcaggagcagtctc	19	12	1	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:26056630G>C	ENST00000343677.2	-	1	69	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	9					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCGGCAGCGGGAGCGGCAG	0.617																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(25-27)ccC>ccG		histone cluster 1, H1c							29	34	32					6																	26056630		2174	4272	6446	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056630G>C	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.27C>G	6.37:g.26056630G>C							p.P9P	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	69	-			9					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.27C>G	CCDS4577.1																																																																																				0.617	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		32	55	0	0	0	1	0	32	55					C	26056630	G	C	26056630	2	2	300	1	0	0	0	0	0	0	0	1	7124	1103	39	4		4	HIST1H1C	6	26056630	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		26056630	145058437	22	30734											
SIM1	6492	broad.mit.edu	37	chr6	100898211	100898211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccatctggggctaccaCgaagatgaagccatccaggg	11	13	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:100898211C>T	ENST00000369208.3	-	4	1062	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	SIM1_ENST00000262901.4_Missense_Mutation_p.V94M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	94	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		GGGGCTACCACGAAGATGAAG	0.527																																						ENST00000369208.3																			0				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						c.(280-282)Gtg>Atg		single-minded family bHLH transcription factor 1							143	131	135					6																	100898211		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100898211C>T	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.280G>A	6.37:g.100898211C>T	ENSP00000358210:p.Val94Met					SIM1_ENST00000262901.4_Missense_Mutation_p.V94M	p.V94M			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	4	1062	-		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)	94			PAS 1.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.280G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053087	0.93793	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.20738	2.05;2.05	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60281	-0.7294	10	0.87932	D	0	.	18.2737	0.90076	0.0:1.0:0.0:0.0	.	94	P81133	SIM1_HUMAN	M	94	ENSP00000358210:V94M;ENSP00000262901:V94M	ENSP00000262901:V94M	V	-	1	0	SIM1	101004932	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.463000	0.80869	2.326000	0.78906	0.561000	0.74099	GTG		0.527	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		59	114	0	0	0	1	0	59	114					T	100898211	C	T	100898211	3	4	300	1	0	0	0	0	1	0	0	0	14323	536	19	1	2056	1	SIM1	6	100898211	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	74841581	100898211	70216856	23	30735											
LAMA2	3908	broad.mit.edu	37	chr6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-													caccagaacctcgatggcctGaagaagaattacaataaact							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	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)		TCGATGGCCTGAAGAAGAATTAC	0.438																																						ENST00000421865.2																			0				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						c.(6193-6198)ctg>ct		laminin, alpha 2																																				SO:0001651	inframe_deletion	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129762070_129762072delGAA	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.6195_6197delGAA	6.37:g.129762076_129762078delGAA	ENSP00000400365:p.Lys2067del						p.LK2065del	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6244_6246	+			2065			Domain II and I.		Q14736|Q5VUM2|Q93022	In_Frame_Del	DEL	ENST00000421865.2	37	c.6195_6197delGAA	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	41						21	41	---	---	---	---	-	129762072	GAA	-	129762070	7	5	300	1	0	1	0	1	0	0	0	0	8606	1277	45	0	6365	0	LAMA2	6	129762070	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	28863859	129762070	41352997	24	30736											
C1GALT1	56913	broad.mit.edu	37	chr7	7278106	7278109	+	Frame_Shift_Del	DEL	AATT	AATT	-													gatcaactatactggaaaacAattaaagcttttcagtatgt							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:7278106_7278109delAATT	ENST00000223122.3	+	2	503_506	c.441_444delAATT	c.(439-444)acaattfs	p.TI147fs	C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000436587.2_Frame_Shift_Del_p.TI147fs			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	147					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACTGGAAAACAATTAAAGCTTTTC	0.358																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(439-444)acfs		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1																																				SO:0001589	frameshift_variant	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7278106_7278109delAATT	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.441_444delAATT	7.37:g.7278106_7278109delAATT	ENSP00000223122:p.Thr147fs					C1GALT1_ENST00000223122.2_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs	p.TI147fs	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	664_667	+			147					Q96QH4|Q9BTU1	Frame_Shift_Del	DEL	ENST00000223122.3	37	c.441_444delAATT	CCDS5355.1																																																																																				0.358	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		21	56						21	56	---	---	---	---	-	7278109	AATT	-	7278106	7	5	300	1	0	1	0	1	0	0	0	0	1952	117	5	0	447	0	C1GALT1	7	7278106	Frame_Shift_Del	DEL	AATT	TCGA-HT-8105-01A-11D-2395-08		7278106	151860557	25	30737											
JAZF1	221895	broad.mit.edu	37	chr7	27880482	27880482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcctcctcgtcatactcGctgcctgcaggacaagagaa	8	15	1	1	rs142184731		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:27880482G>A	ENST00000283928.5	-	4	555	c.390C>T	c.(388-390)agC>agT	p.S130S	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	130		Breakpoint for translocation to form JAZF1-SUZ12 oncogene.			negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTCATACTCGCTGCCTGCAG	0.592			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(388-390)agC>agT		JAZF zinc finger 1		G		1,4405	2.1+/-5.4	0,1,2202	132	101	111		390	-7.1	0.2	7	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAZF1	NM_175061.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		130/244	27880482	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27880482G>A	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.390C>T	7.37:g.27880482G>A						TAX1BP1_ENST00000488564.1_3'UTR|JAZF1_ENST00000466516.1_5'UTR	p.S130S	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			4	555	-			130				Breakpoint for translocation to form JAZF1-SUZ12 oncogene.	A4D195|Q8N3L7	Silent	SNP	ENST00000283928.5	37	c.390C>T	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.230493	0.01518	2.27E-4	1.16E-4	ENSG00000153814	ENST00000427814	.	.	.	5.85	-7.14	0.01527	.	.	.	.	.	T	0.61627	0.2362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65990	-0.6034	4	.	.	.	-0.3516	14.717	0.69277	0.6726:0.0769:0.2505:0.0	.	.	.	.	V	117	.	.	A	-	2	0	JAZF1	27847007	0.001000	0.12720	0.245000	0.24217	0.043000	0.13939	-1.538000	0.02204	-2.159000	0.00787	-2.578000	0.00169	GCG		0.592	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		4	113	0	0	0	1	0	4	113					A	27880482	G	A	27880482	2	1	300	1	0	0	0	0	0	0	0	1	7946	1078	38	1		1	JAZF1	7	27880482	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20602376	27880482	131258181	26	30738											
WBSCR16	81554	broad.mit.edu	37	chr7	74486566	74486566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgtgaatccatagccGcaagcagcagatgaaatctg	11	9	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:74486566G>A	ENST00000329959.4	-	2	397	c.342C>T	c.(340-342)tgC>tgT	p.C114C	WBSCR16_ENST00000543840.1_Silent_p.C114C|WBSCR16_ENST00000503250.2_Silent_p.C114C	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	114							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATCCATAGCCGCAAGCAGCAG	0.423																																						ENST00000503250.2																			0				kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(340-342)tgC>tgT		Williams-Beuren syndrome chromosome region 16							100	95	97					7																	74486566		2203	4300	6503	SO:0001819	synonymous_variant	81554							g.chr7:74486566G>A	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.342C>T	7.37:g.74486566G>A						WBSCR16_ENST00000543840.1_Silent_p.C114C|WBSCR16_ENST00000329959.4_Silent_p.C114C	p.C114C			Q96I51	WBS16_HUMAN			2	411	-			114					D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	ENST00000329959.4	37	c.342C>T	CCDS5577.1																																																																																				0.423	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252740.1	NM_030798		4	115	0	0	0	1	0	4	115					A	74486566	G	A	74486566	2	1	300	1	0	0	0	0	0	0	0	1	17260	1079	38	1		1	WBSCR16	7	74486566	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	46606084	74486566	84652097	27	30739											
ABCB4	5244	broad.mit.edu	37	chr7	87053254	87053254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatatgactgaaaatgCcggctgaagccccccattgg	11	10	0	4	rs546758628		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:87053254C>T	ENST00000265723.4	-	17	2290	c.2179G>A	c.(2179-2181)Gca>Aca	p.A727T	ABCB4_ENST00000358400.3_Missense_Mutation_p.A727T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A727T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A727T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A727T	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	727	ABC transmembrane type-1 2. {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)	ACTGAAAATGCCGGCTGAAGC	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.0					ENST00000265723.4																			0				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						c.(2179-2181)Gca>Aca		ATP-binding cassette, sub-family B (MDR/TAP), member 4							136	141	139					7																	87053254		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87053254C>T	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.2179G>A	7.37:g.87053254C>T	ENSP00000265723:p.Ala727Thr					ABCB4_ENST00000453593.1_Missense_Mutation_p.A727T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A727T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A727T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A727T	p.A727T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			17	2290	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		727			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2179G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173802	0.38413	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	6.11	5.23	0.72850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.312505	0.32918	N	0.005496	D	0.85371	0.5681	L	0.45137	1.4	0.35393	D	0.790895	B;B;B	0.27068	0.095;0.138;0.167	B;B;B	0.33121	0.065;0.098;0.158	D	0.84676	0.0714	10	0.21540	T	0.41	-14.1621	13.3683	0.60698	0.0:0.8697:0.0:0.1303	.	727;727;727	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	727	ENSP00000352135:A727T;ENSP00000351172:A727T;ENSP00000265723:A727T;ENSP00000392983:A727T;ENSP00000437465:A727T	ENSP00000265723:A727T	A	-	1	0	ABCB4	86891190	0.011000	0.17503	0.126000	0.21872	0.888000	0.51559	0.640000	0.24705	1.602000	0.50124	-0.140000	0.14226	GCA		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		4	164	0	0	0	1	0	4	164					T	87053254	C	T	87053254	3	4	300	1	0	0	0	0	1	0	0	0	43	739	26	2	1729	2	ABCB4	7	87053254	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12566688	87053254	72085409	28	30740											
TTC26	79989	broad.mit.edu	37	chr7	138822611	138822613	+	In_Frame_Del	DEL	GAA	GAA	-													agttcaaacgtcatgttgggGaagaagaagaggatactaat							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:138822611_138822613delGAA	ENST00000464848.1	+	3	240_242	c.160_162delGAA	c.(160-162)gaadel	p.E57del	TTC26_ENST00000474035.2_In_Frame_Del_p.E57del|TTC26_ENST00000495038.1_In_Frame_Del_p.E57del|TTC26_ENST00000430935.1_In_Frame_Del_p.E57del|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000478836.2_In_Frame_Del_p.E57del			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	57					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCATGTTGGGGAAGAAGAAGAGG	0.33																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(160-162)del		tetratricopeptide repeat domain 26																																				SO:0001651	inframe_deletion	79989						binding	g.chr7:138822611_138822613delGAA	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.160_162delGAA	7.37:g.138822617_138822619delGAA	ENSP00000419279:p.Glu57del					TTC26_ENST00000343187.4_Intron|TTC26_ENST00000495038.1_In_Frame_Del_p.E57del|TTC26_ENST00000478836.2_In_Frame_Del_p.E57del|TTC26_ENST00000430935.1_In_Frame_Del_p.E57del|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_In_Frame_Del_p.E57del	p.E57del			A0AVF1	TTC26_HUMAN			3	240_242	+			57					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	In_Frame_Del	DEL	ENST00000464848.1	37	c.160_162delGAA	CCDS5852.1																																																																																				0.33	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		7	142						7	142	---	---	---	---	-	138822613	GAA	-	138822611	7	5	300	1	0	1	0	1	0	0	0	0	16691	1175	41	0	170	0	TTC26	7	138822611	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	51769357	138822611	20316052	29	30741											
AGAP3	116988	broad.mit.edu	37	chr7	150840954	150840954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggagggctgtggcttagCgcctacccccaacagagagc	15	12	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:150840954C>T	ENST00000463381.1	+	16	2163	c.1667C>T	c.(1666-1668)gCg>gTg	p.A556V	AGAP3_ENST00000397238.2_Missense_Mutation_p.A887V	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	851	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGGCTTAGCGCCTACCCCC	0.647																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2659-2661)gCg>gTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							53	57	56					7																	150840954		2011	4178	6189	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840954C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1667C>T	7.37:g.150840954C>T	ENSP00000418016:p.Ala556Val					AGAP3_ENST00000463381.1_Missense_Mutation_p.A556V	p.A887V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			18	2660	+			851					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2660C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.715114|-1.715114	0.00706|0.00706	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.69435|.	4.09;-0.4|.	4.44|4.44	3.55|3.55	0.40652|0.40652	.|.	0.487154|.	0.20811|.	N|.	0.085255|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.19112|0.19112	0.55|0.55	0.19775|0.19775	N|N	0.999959|0.999959	B;B;B;B|.	0.27140|.	0.169;0.103;0.001;0.001|.	B;B;B;B|.	0.20384|.	0.029;0.01;0.003;0.001|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.52906|.	T|.	0.07|.	.|.	11.6714|11.6714	0.51403|0.51403	0.0:0.8388:0.0:0.1612|0.0:0.8388:0.0:0.1612	.|.	851;386;887;556|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	V|C	556;386;887;851|380	ENSP00000418016:A556V;ENSP00000380413:A887V|.	ENSP00000334157:A851V|.	A|R	+|+	2|1	0|0	AGAP3|AGAP3	150471887|150471887	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.532000|0.532000	0.34746|0.34746	0.108000|0.108000	0.15396|0.15396	0.562000|0.562000	0.29204|0.29204	-0.797000|-0.797000	0.03246|0.03246	GCG|CGC		0.647	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		69	82	0	0	0	1	0	69	82					T	150840954	C	T	150840954	3	4	300	1	0	0	0	0	1	0	0	0	369	768	27	1	2797	1	AGAP3	7	150840954	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12018343	150840954	8297709	30	30742											
GPR124	25960	broad.mit.edu	37	chr8	37687461	37687461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagctgtcggaacacaCgctctgtgcttaccccagtg	10	15	1	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:37687461C>T	ENST00000412232.2	+	6	660	c.647C>T	c.(646-648)aCg>aTg	p.T216M	GPR124_ENST00000315215.7_Missense_Mutation_p.T216M	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	216	LRRCT.				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)			TCGGAACACACGCTCTGTGCT	0.662																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(646-648)aCg>aTg		G protein-coupled receptor 124							43	38	39					8																	37687461		2202	4300	6502	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37687461C>T	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.647C>T	8.37:g.37687461C>T	ENSP00000406367:p.Thr216Met					GPR124_ENST00000412232.2_Missense_Mutation_p.T216M	p.T216M			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	1010	+			216			LRRCT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.647C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669132	0.67814	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	D;D;D	0.90261	-2.64;-2.64;-2.64	5.21	5.21	0.72293	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.96558	0.9413	10	0.72032	D	0.01	-16.0467	18.7518	0.91819	0.0:1.0:0.0:0.0	.	216;216	Q96PE1-2;Q96PE1	.;GP124_HUMAN	M	174;209;216;216	ENSP00000400860:T174M;ENSP00000323508:T216M;ENSP00000406367:T216M	ENSP00000323508:T216M	T	+	2	0	GPR124	37806619	1.000000	0.71417	0.952000	0.39060	0.038000	0.13279	7.674000	0.83992	2.434000	0.82447	0.462000	0.41574	ACG		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			3	36	0	0	0	1	0	3	36					T	37687461	C	T	37687461	3	4	300	1	0	0	0	0	1	0	0	0	6638	536	19	1	648	1	GPR124	8	37687461	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		37687461	108676561	31	30743											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-													tagcggtagcggcagcggcgGcagcagcagcagcagcagca					rs62519837		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.S234delS(1)|p.S226G(1)	central_nervous_system(1)|skin(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-678)ggc>g		basic helix-loop-helix family, member e22																																				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494021_65494023delGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.674_676delGCA	8.37:g.65494030_65494032delGCA	ENSP00000318799:p.Ser234del					RP11-21C4.1_ENST00000517909.1_RNA	p.GS225del	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1208_1210	+			225			Gly-rich.|Ser-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.674_676delGCA	CCDS6179.1																																																																																				0.709	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		5	8						5	8	---	---	---	---	-	65494023	GCA	-	65494021	7	5	300	1	0	1	0	1	0	0	0	0	1421	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-HT-8105-01A-11D-2395-08	27806560	65494021	80870001	32	30744											
CREB3	57704	broad.mit.edu	37	chr9	35736657	35736660	+	IGR	DEL	AAGG	AAGG	-													cccctgcaggcaaatctcacAaggaagggaggatggcttcc							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:35736657_35736660delAAGG	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Frame_Shift_Del_p.TR350fs|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	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)			CAAATCTCACAAGGAAGGGAGGAT	0.583											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(1048-1053)acfs		cAMP responsive element binding protein 3																																				SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736657_35736660delAAGG	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.35736661_35736664delAAGG			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.TR350fs	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1488_1491	+	all_epithelial(49;0.167)		374			Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.1050_1053delAAGG	CCDS6589.1																																																																																				0.583	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		65	224						65	224	---	---	---	---	-	35736660	AAGG	-	35736657	6	5	300	0	1	1	0	1	0	0	0	0	3855	117	5	0		0	CREB3	9	35736657	IGR	DEL	AAGG	TCGA-HT-8105-01A-11D-2395-08		35736657	105476774	33	30745											
MEGF9	1955	broad.mit.edu	37	chr9	123374758	123374760	+	In_Frame_Del	DEL	CTT	CTT	-													atcaggactctgataaaatcCttctttacattcttcacagt							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:123374758_123374760delCTT	ENST00000373930.3	-	4	1112_1114	c.1001_1003delAAG	c.(1000-1005)gaagga>gga	p.E334del	MEGF9_ENST00000426959.1_In_Frame_Del_p.E371del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGATAAAATCCTTCTTTACATTC	0.374																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1000-1005)gga>g		multiple EGF-like-domains 9																																				SO:0001651	inframe_deletion	1955					integral to membrane	calcium ion binding	g.chr9:123374758_123374760delCTT	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1001_1003delAAG	9.37:g.123374761_123374763delCTT	ENSP00000363040:p.Glu334del					MEGF9_ENST00000426959.1_In_Frame_Del_p.EG371del	p.EG334del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			4	1112_1114	-			334			Laminin EGF-like 3.		B7Z315|O75098	In_Frame_Del	DEL	ENST00000373930.3	37	c.1001_1003delAAG	CCDS48010.2																																																																																				0.374	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		13	27						13	27	---	---	---	---	-	123374760	CTT	-	123374758	7	5	300	1	0	1	0	1	0	0	0	0	9464	690	24	0	817	0	MEGF9	9	123374758	In_Frame_Del	DEL	CTT	TCGA-HT-8105-01A-11D-2395-08	87638101	123374758	17838673	34	30746											
ZER1	10444	broad.mit.edu	37	chr9	131512920	131512920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggtaggattccatgCcattcagcaccacctggata	8	14	1	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:131512920C>T	ENST00000291900.2	-	8	1740	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	445					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						GGATTCCATGCCATTCAGCAC	0.627																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1333-1335)gGc>gAc		zyg-11 related, cell cycle regulator							74	61	65					9																	131512920		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131512920C>T	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.1334G>A	9.37:g.131512920C>T	ENSP00000291900:p.Gly445Asp						p.G445D	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			8	1740	-			445					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1334G>A	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857026	0.91433	.	.	ENSG00000160445	ENST00000291900	T	0.06449	3.3	4.35	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.057720	0.64402	D	0.000002	T	0.17195	0.0413	M	0.65498	2.005	0.80722	D	1	P	0.39022	0.655	P	0.49361	0.608	T	0.00719	-1.1595	10	0.66056	D	0.02	-39.6271	16.0478	0.80731	0.0:1.0:0.0:0.0	.	445	Q7Z7L7	ZER1_HUMAN	D	445	ENSP00000291900:G445D	ENSP00000291900:G445D	G	-	2	0	ZER1	130552741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.084000	0.76866	2.259000	0.74868	0.467000	0.42956	GGC		0.627	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		38	32	0	0	0	1	0	38	32					T	131512920	C	T	131512920	3	4	300	1	0	0	0	0	1	0	0	0	17622	739	26	2	1002	2	ZER1	9	131512920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	8138162	131512920	9700511	35	30747											
SETX	23064	broad.mit.edu	37	chr9	135211887	135211887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtttcttgcagtcaagaTagcccaacgccgaacctaaa	7	12	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:135211887T>C	ENST00000224140.5	-	6	696	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	SETX_ENST00000372169.2_Missense_Mutation_p.I172V|SETX_ENST00000393220.1_Missense_Mutation_p.I172V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	172					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)		GCAGTCAAGATAGCCCAACGC	0.348																																						ENST00000372169.2																			0				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						c.(514-516)Atc>Gtc		senataxin							77	79	78					9																	135211887		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135211887T>C	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.514A>G	9.37:g.135211887T>C	ENSP00000224140:p.Ile172Val					SETX_ENST00000393220.1_Missense_Mutation_p.I172V|SETX_ENST00000224140.5_Missense_Mutation_p.I172V	p.I172V			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	6	696	-		Myeloproliferative disorder(178;0.204)	172					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.514A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146113	0.77888	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.83075	-1.68;-1.68;-1.68	5.9	5.9	0.94986	.	0.133750	0.48286	D	0.000197	D	0.86314	0.5903	L	0.29908	0.895	0.36015	D	0.838364	D	0.76494	0.999	D	0.76071	0.987	D	0.90118	0.4197	10	0.66056	D	0.02	.	15.5083	0.75760	0.0:0.0:0.0:1.0	.	172	Q7Z333	SETX_HUMAN	V	172	ENSP00000224140:I172V;ENSP00000361242:I172V;ENSP00000376913:I172V	ENSP00000224140:I172V	I	-	1	0	SETX	134201708	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.179000	0.71974	2.250000	0.74265	0.528000	0.53228	ATC		0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		35	60	0	0	0	1	0	35	60					C	135211887	T	C	135211887	3	2	300	1	0	0	0	0	1	0	0	0	14141	1406	49	3	7603	3	SETX	9	135211887	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	3698967	135211887	6001544	36	30748											
NOTCH1	4851	broad.mit.edu	37	chr9	139412725	139412727	+	In_Frame_Del	DEL	GTT	GTT	-													gggttgctgatgcatgcgtcGttgaggtggcacagcagacc					rs368588745		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:139412725_139412727delGTT	ENST00000277541.6	-	7	1192_1194	c.1117_1119delAAC	c.(1117-1119)aacdel	p.N373del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	373	EGF-like 10. {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)		TGCATGCGTCGTTGAGGTGGCAC	0.67			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(1117-1119)del		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412725_139412727delGTT	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.1117_1119delAAC	9.37:g.139412725_139412727delGTT	ENSP00000277541:p.Asn373del	HNSCC(8;0.001)					p.N373del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1192_1194	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	373			EGF-like 10.		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1117_1119delAAC	CCDS43905.1																																																																																				0.67	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	23						13	23	---	---	---	---	-	139412727	GTT	-	139412725	7	5	300	1	0	1	0	1	0	0	0	0	10547	1136	40	0	6660	0	NOTCH1	9	139412725	In_Frame_Del	DEL	GTT	TCGA-HT-8105-01A-11D-2395-08	4200838	139412725	1800706	37	30749											
MYST4	23522	broad.mit.edu	37	chr10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													catcagcctgggaagaaaagAcaaacagaggaagaggaagg							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					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)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	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.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		13	35						13	35	---	---	---	---	-	76784949	ACAA	-	76784946	7	5	300	1	0	1	0	1	0	0	0	0	10105	272	10	0	3661	0	MYST4	10	76784946	Frame_Shift_Del	DEL	ACAA	TCGA-HT-8105-01A-11D-2395-08		76784946	58749801	38	30750											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606210	1606210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttggatcccccacaagaGccacagccccccttgcagcc	7	21	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:1606210G>A	ENST00000382171.2	-	1	303	c.270C>T	c.(268-270)ggC>ggT	p.G90G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	90	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(268-270)ggC>ggT		keratin associated protein 5-1							35	51	46					11																	1606210		2201	4291	6492	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606210G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.270C>T	11.37:g.1606210G>A						KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	p.G90G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	303	-		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)	90			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.270C>T	CCDS31330.1																																																																																				0.667	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		5	129	0	0	0	1	0	5	129					A	1606210	G	A	1606210	2	1	300	1	0	0	0	0	0	0	0	1	8558	958	34	2		2	KRTAP5-1	11	1606210	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1606210	133400306	39	30751											
OR5T3	390154	broad.mit.edu	37	chr11	56020647	56020647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatctatagtttgaggaaCaaagaagtaaaaaaggcagt	9	4	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:56020647C>A	ENST00000303059.3	+	1	972	c.972C>A	c.(970-972)aaC>aaA	p.N324K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTGAGGAACAAAGAAGTAA	0.323																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(970-972)aaC>aaA		olfactory receptor, family 5, subfamily T, member 3							47	45	46					11																	56020647		2201	4293	6494	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020647C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.972C>A	11.37:g.56020647C>A	ENSP00000305403:p.Asn324Lys						p.N324K	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	972	+	Esophageal squamous(21;0.00448)		324					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.972C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	8.123	0.781449	0.16120	.	.	ENSG00000172489	ENST00000303059	T	0.50001	0.76	4.32	1.37	0.22104	.	0.000000	0.51477	D	0.000092	T	0.51702	0.1690	H	0.95151	3.63	0.22933	N	0.998547	B	0.34290	0.447	B	0.26094	0.066	T	0.56335	-0.7996	10	0.87932	D	0	.	6.0491	0.19775	0.1426:0.6319:0.0:0.2255	.	324	Q8NGG3	OR5T3_HUMAN	K	324	ENSP00000305403:N324K	ENSP00000305403:N324K	N	+	3	2	OR5T3	55777223	0.722000	0.28017	1.000000	0.80357	0.175000	0.22909	-0.095000	0.11077	0.551000	0.29008	0.643000	0.83706	AAC		0.323	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		19	31	1	0	1.67942e-08	1	1.72193e-08	19	31					A	56020647	C	A	56020647	3	1	300	1	0	0	0	0	1	0	0	0	11183	477	17	4	974	4	OR5T3	11	56020647	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	54414437	56020647	78985869	40	30752											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-													ggctgaccctgctgaccctcCtgctgctgctgctggctggg							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(133-135)del		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1			,	70,4042		1,68,1987					,	0.6	1			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del	p.L49del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			1	499_501	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.133_135delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		3	5						3	5	---	---	---	---	-	57365776	CTG	-	57365774	7	5	300	1	0	1	0	1	0	0	0	0	14116	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-HT-8105-01A-11D-2395-08	1345127	57365774	77640742	41	30753											
PLEKHB1	58473	broad.mit.edu	37	chr11	73362876	73362877	+	Frame_Shift_Del	DEL	TG	TG	-													agccgagatggcctgctgacTgtgaacctacgggaaggcgg							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:73362876_73362877delTG	ENST00000354190.5	+	4	722_723	c.291_292delTG	c.(289-294)actgtgfs	p.V98fs	PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.V98fs|PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.V28fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.V79fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						GCCTGCTGACTGTGAACCTACG	0.624																																						ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(289-294)actgfs		pleckstrin homology domain containing, family B (evectins) member 1																																				SO:0001589	frameshift_variant	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73362876_73362877delTG	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"Pleckstrin homology (PH) domain containing"	19079	protein-coding gene	gene with protein product		607651	"PH domain containing, retinal 1"	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.291_292delTG	11.37:g.73362878_73362879delTG	ENSP00000346127:p.Val98fs					PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.TV78fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.TV78fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.TV97fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.TV78fs|PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.TV27fs	p.TV97fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN			4	722_723	+			97			PH.		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Frame_Shift_Del	DEL	ENST00000354190.5	37	c.291_292delTG	CCDS44672.1																																																																																				0.624	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			22	35						22	35	---	---	---	---	-	73362877	TG	-	73362876	7	5	300	1	0	1	0	1	0	0	0	0	12064	1567	55	0	305	0	PLEKHB1	11	73362876	Frame_Shift_Del	DEL	TG	TCGA-HT-8105-01A-11D-2395-08	15997102	73362876	61643640	42	30754											
RSF1	51773	broad.mit.edu	37	chr11	77386296	77386296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacacaacaaactcatctTgagatctgtccaagagaaat	6	10	3	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:77386296T>C	ENST00000308488.6	-	14	3649	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R	RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R|RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAACTCATCTTGAGATCTGTC	0.393																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3346-3348)cAa>cGa		remodeling and spacing factor 1							73	70	71					11																	77386296		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77386296T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3347A>G	11.37:g.77386296T>C	ENSP00000311513:p.Gln1116Arg					RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R|RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R	p.Q1116R			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		14	3649	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1116					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.3347A>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339011	0.81911	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	D;D;D;D	0.91577	-2.0;-2.03;-2.0;-2.87	4.97	4.97	0.65823	.	0.000000	0.49305	D	0.000148	D	0.87581	0.6213	N	0.22421	0.69	0.37246	D	0.906338	P	0.51791	0.948	P	0.48738	0.588	D	0.90952	0.4806	10	0.72032	D	0.01	-15.2879	14.4865	0.67622	0.0:0.0:0.0:1.0	.	1116	Q96T23	RSF1_HUMAN	R	1116;864;1085;225	ENSP00000311513:Q1116R;ENSP00000434509:Q864R;ENSP00000353511:Q1085R;ENSP00000433603:Q225R	ENSP00000311513:Q1116R	Q	-	2	0	RSF1	77063944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.436000	0.73417	2.082000	0.62665	0.528000	0.53228	CAA		0.393	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		17	20	0	0	0	1	0	17	20					C	77386296	T	C	77386296	3	2	300	1	0	0	0	0	1	0	0	0	13699	1812	63	3	990	3	RSF1	11	77386296	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	4023420	77386296	57620220	43	30755											
AMOTL1	154810	broad.mit.edu	37	chr11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccattgccttgcagccGcccatgccaacttccgttcc	6	19	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:94554698G>A	ENST00000433060.2	+	4	1265	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	375					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1123-1125)cGc>cAc		angiomotin like 1							27	33	31					11																	94554698		2144	4244	6388	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554698G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1124G>A	11.37:g.94554698G>A	ENSP00000387739:p.Arg375His					AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H	p.R375H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1265	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	375					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1124G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913356	0.52439	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13089	2.62;2.62;2.62	5.68	5.68	0.88126	.	0.076575	0.56097	D	0.000032	T	0.33789	0.0875	M	0.66939	2.045	0.51482	D	0.999926	D;D	0.76494	0.999;0.996	D;P	0.65323	0.934;0.67	T	0.02813	-1.1107	10	0.13853	T	0.58	-25.1937	19.7951	0.96477	0.0:0.0:1.0:0.0	.	325;375	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	H	325;381;375;375	ENSP00000320968:R325H;ENSP00000323474:R375H;ENSP00000387739:R375H	ENSP00000320968:R325H	R	+	2	0	AMOTL1	94194346	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	5.190000	0.65104	2.698000	0.92095	0.561000	0.74099	CGC		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		3	42	0	0	0	1	0	3	42					A	94554698	G	A	94554698	3	1	300	1	0	0	0	0	1	0	0	0	583	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17168402	94554698	40451818	44	30756											
ABCC9	10060	broad.mit.edu	37	chr12	22069947	22069947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcctgtgatgcagaaaCgcaggtttgatatgtccaag	11	8	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:22069947C>T	ENST00000261201.4	-	4	496	c.497G>A	c.(496-498)cGt>cAt	p.R166H	ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H|ABCC9_ENST00000261200.4_Missense_Mutation_p.R166H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	166					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)	GATGCAGAAACGCAGGTTTGA	0.418																																						ENST00000261200.4																			0				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						c.(496-498)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						209	197	201					12																	22069947		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22069947C>T	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.497G>A	12.37:g.22069947C>T	ENSP00000261201:p.Arg166His					ABCC9_ENST00000261201.4_Missense_Mutation_p.R166H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H	p.R166H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			4	496	-			166					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.497G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021333	0.93462	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92545	-3.05;-3.06;-3.04	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	D	0.96604	0.9447	10	0.87932	D	0	-8.0473	18.4944	0.90860	0.0:1.0:0.0:0.0	.	166;166	O60706;O60706-2	ABCC9_HUMAN;.	H	166	ENSP00000261200:R166H;ENSP00000261201:R166H;ENSP00000261202:R166H	ENSP00000261200:R166H	R	-	2	0	ABCC9	21961214	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.625000	0.83145	2.371000	0.80710	0.650000	0.86243	CGT		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		35	182	0	0	0	1	0	35	182					T	22069947	C	T	22069947	3	4	300	1	0	0	0	0	1	0	0	0	59	536	19	1	4434	1	ABCC9	12	22069947	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		22069947	111781948	45	30757											
NAB2	4665	broad.mit.edu	37	chr12	57487287	57487287	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacacatcctgcagcagacActgatggacgaggggctgcg	14	12	0	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:57487287A>G	ENST00000300131.3	+	6	1752	c.1374A>G	c.(1372-1374)acA>acG	p.T458T	NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	458					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						TGCAGCAGACACTGATGGACG	0.687																																						ENST00000300131.3																			0				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						c.(1372-1374)acA>acG		NGFI-A binding protein 2 (EGR1 binding protein 2)							11	12	11					12																	57487287		2157	4227	6384	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57487287A>G	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.1374A>G	12.37:g.57487287A>G						NAB2_ENST00000342556.6_Intron|NAB2_ENST00000357680.4_3'UTR	p.T458T	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			6	1752	+			458					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.1374A>G	CCDS8930.1																																																																																				0.687	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		6	8	0	0	0	1	0	6	8					G	57487287	A	G	57487287	2	3	300	1	0	0	0	0	0	0	0	1	10132	146	6	3		3	NAB2	12	57487287	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08	35417340	57487287	76364608	46	30758											
CAPS2	84698	broad.mit.edu	37	chr12	75692508	75692508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgttttccttttcttcGtccacactgatgactataaa	5	9	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:75692508G>A	ENST00000409445.3	-	12	1256	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_Nonsense_Mutation_p.R122*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000534648.2_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	354							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCTTTTCTTCGTCCACACTGA	0.353																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(364-366)Cga>Tga		calcyphosine 2							147	143	145					12																	75692508		2203	4299	6502	SO:0001587	stop_gained	84698						calcium ion binding	g.chr12:75692508G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1060C>T	12.37:g.75692508G>A	ENSP00000386959:p.Arg354*					CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R354*	p.R122*			Q9BXY5	CAYP2_HUMAN			11	965	-			354					Q6PH84|Q8N242|Q8NAY5	Nonsense_Mutation	SNP	ENST00000409445.3	37	c.364C>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	38	6.815581	0.97861	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	.	.	.	5.49	4.59	0.56863	.	0.386973	0.22483	N	0.059473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.341	15.7485	0.77965	0.0:0.0:0.8626:0.1374	.	.	.	.	X	272;354;90;122	.	ENSP00000367975:R90X	R	-	1	2	CAPS2	73978775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.631000	0.54280	1.307000	0.44944	0.542000	0.68232	CGA		0.353	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			13	28	0	0	0	1	0	13	28					A	75692508	G	A	75692508	4	1	300	1	0	0	0	0	0	1	0	0	2638	1153	40	1	641	1	CAPS2	12	75692508	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	18205221	75692508	58159387	47	30759											
DDX51	317781	broad.mit.edu	37	chr12	132626153	132626153	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggtacccatcagctcTacagaccagagagcagctcg	11	14	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132626153T>C	ENST00000397333.3	-	7	1034		c.e7-2		NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCAGCTCTACAGACCAGA	0.622																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.e7-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							34	44	41					12																	132626153		2119	4231	6350	SO:0001630	splice_region_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626153T>C	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.996-2A>G	12.37:g.132626153T>C								NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	7	1034	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)						A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Splice_Site	SNP	ENST00000397333.3	37		CCDS41865.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320299	0.41096	.	.	ENSG00000185163	ENST00000397333	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.371	0.55254	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX51	131192106	1.000000	0.71417	0.024000	0.17045	0.002000	0.02628	4.854000	0.62918	1.805000	0.52779	0.482000	0.46254	.		0.622	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066	Intron	19	34	0	0	0	1	0	19	34					C	132626153	T	C	132626153	5	2	300	1	0	0	0	0	0	0	1	0	4369	1536	53	3	1042	3	DDX51	12	132626153	Splice_Site	SNP	T	TCGA-HT-8105-01A-11D-2395-08	56933645	132626153	1225742	48	30760											
SLITRK5	26050	broad.mit.edu	37	chr13	88329500	88329500	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgactattcagatgtagtAgtttccacgcccacaccctc	6	15	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:88329500A>G	ENST00000325089.6	+	2	2076	c.1857A>G	c.(1855-1857)gtA>gtG	p.V619V	SLITRK5_ENST00000400028.3_Silent_p.V378V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	619					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)					CAGATGTAGTAGTTTCCACGC	0.592																																						ENST00000325089.6																			0				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						c.(1855-1857)gtA>gtG		SLIT and NTRK-like family, member 5							136	128	131					13																	88329500		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329500A>G	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.1857A>G	13.37:g.88329500A>G						SLITRK5_ENST00000400028.3_Silent_p.V378V	p.V619V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2076	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		619					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1857A>G	CCDS9465.1																																																																																				0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			18	202	0	0	0	1	0	18	202					G	88329500	A	G	88329500	2	3	300	1	0	0	0	0	0	0	0	1	14746	407	15	3		3	SLITRK5	13	88329500	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		88329500	26840378	49	30761											
TMTC4	84899	broad.mit.edu	37	chr13	101294549	101294549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagaaggtggaagaatgCgctccctccttgttacctgc	10	13	0	2	rs373303346		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:101294549C>T	ENST00000376234.3	-	6	789	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TMTC4_ENST00000342624.5_Silent_p.A219A|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.A89A	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAAGAATGCGCTCCCTCCT	0.468																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(655-657)gcG>gcA		transmembrane and tetratricopeptide repeat containing 4		C	,	0,4114		0,0,2057	125	135	132		600,657	-11.4	0	13		132	3,8373		0,3,4185	no	coding-synonymous,coding-synonymous	TMTC4	NM_001079669.1,NM_032813.2	,	0,3,6242	TT,TC,CC		0.0358,0.0,0.024	,	200/742,219/761	101294549	3,12487	2057	4188	6245	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101294549C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.600G>A	13.37:g.101294549C>T						TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.A89A|TMTC4_ENST00000376234.3_Silent_p.A200A	p.A219A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			7	915	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		200					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.657G>A	CCDS41904.1																																																																																				0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		49	108	0	0	0	1	0	49	108					T	101294549	C	T	101294549	2	4	300	1	0	0	0	0	0	0	0	1	16260	755	27	1		1	TMTC4	13	101294549	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12965049	101294549	13875329	50	30762											
TCF12	6938	broad.mit.edu	37	chr15	57484478	57484479	+	Frame_Shift_Del	DEL	CT	CT	-													aggaggagaccactccatgaCtctgcagcgcttggtgagtg							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:57484478_57484479delCT	ENST00000267811.5	+	7	817_818	c.513_514delCT	c.(511-516)gactctfs	p.S172fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.S172fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S172fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S168fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S172fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	172					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACTCCATGACTCTGCAGCGCT	0.46			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(511-516)gactfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57484478_57484479delCT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.513_514delCT	15.37:g.57484480_57484481delCT	ENSP00000267811:p.Ser172fs					TCF12_ENST00000438423.2_Frame_Shift_Del_p.DS171fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.DS171fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.DS171fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.DS167fs	p.DS171fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	7	817_818	+		Colorectal(260;0.0907)	171					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.513_514delCT	CCDS10159.1																																																																																				0.46	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		40	84						40	84	---	---	---	---	-	57484479	CT	-	57484478	7	5	300	1	0	1	0	1	0	0	0	0	15684	564	20	0	535	0	TCF12	15	57484478	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08		57484478	45046914	51	30763											
CCDC33	80125	broad.mit.edu	37	chr15	74623086	74623086	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcatttgcagaatgagctGattcgagtgagctggggctt	14	7	0	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:74623086G>A	ENST00000398814.3	+	13	1970	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000321288.5_Silent_p.L716L|CCDC33_ENST00000558821.1_Silent_p.L106L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	716										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						AGAATGAGCTGATTCGAGTGA	0.567																																						ENST00000321288.5																			0				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						c.(2146-2148)ctG>ctA		coiled-coil domain containing 33							69	71	70					15																	74623086		1985	4160	6145	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74623086G>A	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.1539G>A	15.37:g.74623086G>A						CCDC33_ENST00000558821.1_Silent_p.L106L|CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000398814.3_Silent_p.L513L	p.L716L			Q8N5R6	CCD33_HUMAN			15	2148	+			716					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.2148G>A	CCDS42058.1																																																																																				0.567	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		31	45	0	0	0	1	0	31	45					A	74623086	G	A	74623086	2	1	300	1	0	0	0	0	0	0	0	1	2806	1277	45	2		2	CCDC33	15	74623086	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17138608	74623086	27908306	52	30764											
WDR90	197335	broad.mit.edu	37	chr16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-													cgaccaaagcttccccggggCccccccagcctgcaagacag							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:709106delC	ENST00000293879.4	+	25	3032	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_ENST00000549091.1_Frame_Shift_Del_p.A1011fs|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3031-3033)gcfs		WD repeat domain 90							45	56	53					16																	709106		1960	4181	6141	SO:0001589	frameshift_variant	197335							g.chr16:709106delC	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3032delC	16.37:g.709106delC	ENSP00000293879:p.Ala1011fs					WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			25	3124	+		Hepatocellular(780;0.0218)	1011					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Frame_Shift_Del	DEL	ENST00000293879.4	37	c.3032delC	CCDS42092.1																																																																																				0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		7	148						7	148	---	---	---	---	-	709106	C	-	709106	7	5	300	1	0	1	0	1	0	0	0	0	17334	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Del	DEL	C	TCGA-HT-8105-01A-11D-2395-08		709106	89645647	53	30765											
MYH11	4629	broad.mit.edu	37	chr16	15820745	15820745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgagctccgcccgggccCgctccccatcgctgcacttg	10	19	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:15820745C>T	ENST00000300036.5	-	28	3927	c.3818G>A	c.(3817-3819)cGg>cAg	p.R1273Q	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.R1280Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q|MYH11_ENST00000576790.2_Missense_Mutation_p.R1273Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1273					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCCGGGCCCGCTCCCCATC	0.647			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(3817-3819)cGg>cAg		myosin, heavy chain 11, smooth muscle							75	82	80					16																	15820745		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15820745C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3818G>A	16.37:g.15820745C>T	ENSP00000300036:p.Arg1273Gln					AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.R1280Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q|MYH11_ENST00000576790.1_Missense_Mutation_p.R1273Q|MYH11_ENST00000300036.5_Missense_Mutation_p.R1273Q	p.R1273Q	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			28	3924	-			1273					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3818G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544025	0.65198	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.68	3.72	0.42706	Myosin tail (1);	0.313361	0.28895	N	0.013785	D	0.90031	0.6887	M	0.82923	2.615	0.47094	D	0.999314	D;D;D;D;D	0.69078	0.984;0.997;0.997;0.997;0.997	P;D;D;D;D	0.66351	0.794;0.943;0.943;0.943;0.916	D	0.90465	0.4449	10	0.59425	D	0.04	.	12.2322	0.54495	0.0:0.917:0.0:0.083	.	1280;1273;1280;1273;1280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1273;1273;1280;1280;1280	ENSP00000300036:R1273Q;ENSP00000345136:R1273Q;ENSP00000379616:R1280Q;ENSP00000407821:R1280Q	ENSP00000300036:R1273Q	R	-	2	0	MYH11	15728246	0.991000	0.36638	0.933000	0.37362	0.451000	0.32288	2.725000	0.47294	1.099000	0.41499	0.655000	0.94253	CGG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		87	105	0	0	0	1	0	87	105					T	15820745	C	T	15820745	3	4	300	1	0	0	0	0	1	0	0	0	10031	652	23	1	2191	1	MYH11	16	15820745	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	15111639	15820745	74534008	54	30766											
CNGB1	1258	broad.mit.edu	37	chr16	57918281	57918281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccggggcgcgggtgggtcGgtggcggcctcctttgggtg	22	10	0	0	rs375919369		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:57918281G>A	ENST00000251102.8	-	33	3603	c.3543C>T	c.(3541-3543)acC>acT	p.T1181T	CNGB1_ENST00000564448.1_Silent_p.T1175T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1181					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						CGGGTGGGTCGGTGGCGGCCT	0.716																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				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						c.(3523-3525)acC>acT		cyclic nucleotide gated channel beta 1		G		0,3816		0,0,1908	15	17	17		3543	-4.9	0	16		17	1,8141		0,1,4070	no	coding-synonymous	CNGB1	NM_001297.4		0,1,5978	AA,AG,GG		0.0123,0.0,0.0084		1181/1252	57918281	1,11957	1908	4071	5979	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918281G>A	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.3543C>T	16.37:g.57918281G>A						CNGB1_ENST00000251102.8_Silent_p.T1181T	p.T1175T			Q14028	CNGB1_HUMAN			33	3585	-			1181					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.3525C>T	CCDS42169.1																																																																																				0.716	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	59	0	0	0	1	0	7	59					A	57918281	G	A	57918281	2	1	300	1	0	0	0	0	0	0	0	1	3600	1103	39	1		1	CNGB1	16	57918281	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	42097536	57918281	32436472	55	30767											
KCNG4	93107	broad.mit.edu	37	chr16	84270707	84270707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcaccagcttcccggCcgccaggaagctcacgatca	10	16	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270707C>T	ENST00000308251.4	-	2	453	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	KCNG4_ENST00000568181.1_Missense_Mutation_p.A129T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	129					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCTTCCCGGCCGCCAGGAAG	0.637																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(385-387)Gcc>Acc		potassium voltage-gated channel, subfamily G, member 4							47	50	49					16																	84270707		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270707C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.385G>A	16.37:g.84270707C>T	ENSP00000312129:p.Ala129Thr					KCNG4_ENST00000308251.4_Missense_Mutation_p.A129T	p.A129T			Q8TDN1	KCNG4_HUMAN			2	505	-			129					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.385G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271060	0.80469	.	.	ENSG00000168418	ENST00000308251	T	0.74526	-0.85	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052146	0.85682	D	0.000000	T	0.69333	0.3099	N	0.10972	0.075	0.50467	D	0.999878	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.989	T	0.64943	-0.6288	10	0.02654	T	1	.	14.761	0.69607	0.0:0.8548:0.1452:0.0	.	129;129	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	T	129	ENSP00000312129:A129T	ENSP00000312129:A129T	A	-	1	0	KCNG4	82828208	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.988000	0.70579	1.131000	0.42111	0.549000	0.68633	GCC		0.637	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		28	57	0	0	0	1	0	28	57					T	84270707	C	T	84270707	3	4	300	1	0	0	0	0	1	0	0	0	8030	739	26	2	1180	2	KCNG4	16	84270707	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	26352426	84270707	6084046	56	30768											
KCNG4	93107	broad.mit.edu	37	chr16	84270753	84270755	+	In_Frame_Del	DEL	GAA	GAA	-													aaggcgctggggctcctgtcGaagaagaactcctggctgtc							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270753_84270755delGAA	ENST00000308251.4	-	2	405_407	c.337_339delTTC	c.(337-339)ttcdel	p.F113del	KCNG4_ENST00000568181.1_In_Frame_Del_p.F113del	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	113					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)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTCCTGTCGAAGAAGAACTCC	0.626																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(337-339)del		potassium voltage-gated channel, subfamily G, member 4				2,4262		1,0,2131						5.1	1			60	9,8245		4,1,4122	no	coding	KCNG4	NM_172347.2		5,1,6253	A1A1,A1R,RR		0.109,0.0469,0.0879				11,12507				SO:0001651	inframe_deletion	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270753_84270755delGAA	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.337_339delTTC	16.37:g.84270759_84270761delGAA	ENSP00000312129:p.Phe113del					KCNG4_ENST00000308251.4_In_Frame_Del_p.F113del	p.F113del			Q8TDN1	KCNG4_HUMAN			2	457_459	-			113					Q96H24	In_Frame_Del	DEL	ENST00000308251.4	37	c.337_339delTTC	CCDS10945.1																																																																																				0.626	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		28	73						28	73	---	---	---	---	-	84270755	GAA	-	84270753	7	5	300	1	0	1	0	1	0	0	0	0	8030	1049	37	0	1226	0	KCNG4	16	84270753	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	46	84270753	6084000	57	30769											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	26	0	0	0	1	0	14	26					A	7577121	G	A	7577121	3	1	300	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7577121	73618089	58	30770											
SREBF1	6720	broad.mit.edu	37	chr17	17717630	17717630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactggccttctcacagaTggtcaggctggctggaccag	12	14	2	1	rs571282377		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717630T>C	ENST00000261646.5	-	16	3014	c.2830A>G	c.(2830-2832)Atc>Gtc	p.I944V	SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.I974V	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	944					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTCTCACAGATGGTCAGGCTG	0.657													T|||	1	0.000199681	0.0	0.0	5008	,	,		15883	0.0		0.0	False		,,,				2504	0.001					ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(2920-2922)Atc>Gtc		sterol regulatory element binding transcription factor 1							28	22	24					17																	17717630		2189	4291	6480	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17717630T>C	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2830A>G	17.37:g.17717630T>C	ENSP00000261646:p.Ile944Val					SREBF1_ENST00000261646.5_Missense_Mutation_p.I944V|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V|SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V	p.I974V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			17	3089	-			944					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2920A>G	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.33|11.33	1.607518|1.607518	0.28623|0.28623	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T;T	.|0.15139	.|2.45;2.45;2.45;2.45	5.1|5.1	-2.65|-2.65	0.06095|0.06095	.|.	.|0.835488	.|0.11203	.|N	.|0.588563	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24368	.|0.036;0.102;0.024	.|B;B;B	.|0.25506	.|0.014;0.033;0.061	T|T	0.35599|0.35599	-0.9782|-0.9782	5|10	.|0.16896	.|T	.|0.51	-7.3986|-7.3986	4.8001|4.8001	0.13292|0.13292	0.1241:0.0898:0.5562:0.2299|0.1241:0.0898:0.5562:0.2299	.|.	.|944;974;563	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	R|V	951|944;974;944;690;563;781;870	.|ENSP00000345822:I944V;ENSP00000348069:I974V;ENSP00000261646:I944V;ENSP00000379106:I690V	.|ENSP00000261646:I944V	H|I	-|-	2|1	0|0	SREBF1|SREBF1	17658355|17658355	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	1.066000|1.066000	0.30604|0.30604	-0.212000|-0.212000	0.10109|0.10109	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.657	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	0	0	0	1	0	6	5					C	17717630	T	C	17717630	3	2	300	1	0	0	0	0	1	0	0	0	15140	1464	51	3	629	3	SREBF1	17	17717630	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	10140509	17717630	63477580	59	30771			1	33		2	2	21	N	T_G	4.716148e-05
SREBF1	6720	broad.mit.edu	37	chr17	17717650	17717650	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggtcaggctggctggaccaGactctgccttggcacagccc	13	14	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717650G>C	ENST00000261646.5	-	16	2994	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.S967C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	937					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCTGGACCAGACTCTGCCTT	0.642																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(2899-2901)tCt>tGt		sterol regulatory element binding transcription factor 1							23	18	20					17																	17717650		2189	4289	6478	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17717650G>C	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2810C>G	17.37:g.17717650G>C	ENSP00000261646:p.Ser937Cys					SREBF1_ENST00000261646.5_Missense_Mutation_p.S937C|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C|SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C	p.S967C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			17	3069	-			937					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2900C>G	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960797	0.53400	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.57	3.6	0.41247	.	0.412865	0.26457	N	0.024279	T	0.31327	0.0793	M	0.68593	2.085	0.19575	N	0.999964	B;D;D	0.69078	0.002;0.997;0.995	B;P;P	0.60789	0.003;0.818;0.879	T	0.03969	-1.0988	10	0.72032	D	0.01	-4.9006	7.9956	0.30267	0.0918:0.1658:0.7424:0.0	.	937;967;556	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	C	937;967;937;683;556;774;863	ENSP00000345822:S937C;ENSP00000348069:S967C;ENSP00000261646:S937C;ENSP00000379106:S683C	ENSP00000261646:S937C	S	-	2	0	SREBF1	17658375	0.087000	0.21565	0.032000	0.17829	0.959000	0.62525	2.855000	0.48333	2.544000	0.85801	0.555000	0.69702	TCT		0.642	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	0	0	0	1	0	6	5					C	17717650	G	C	17717650	3	2	300	1	0	0	0	0	1	0	0	0	15140	942	33	4	649	4	SREBF1	17	17717650	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20	17717650	63477560	60	30772			1	33		2	2	21	N	T_G	4.716148e-05
SSH2	85464	broad.mit.edu	37	chr17	27975227	27975227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggttgggcttggttacCgttcgtctttctttcacata	10	9	3	0	rs371829849		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:27975227C>T	ENST00000269033.3	-	13	1432	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.T454T|RP11-68I3.11_ENST00000582881.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	427	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|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)|extracellular space (GO:0005615)	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)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTTGGTTACCGTTCGTCTTT	0.502																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1279-1281)acG>acA		slingshot protein phosphatase 2		C		0,4406		0,0,2203	170	160	164		1281	-9.3	0.8	17		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SSH2	NM_033389.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		427/1424	27975227	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27975227C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1281G>A	17.37:g.27975227C>T						RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.T454T	p.T427T	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			13	1432	-			427			Tyrosine-protein phosphatase.		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.1281G>A	CCDS11253.1																																																																																				0.502	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		4	113	0	0	0	1	0	4	113					T	27975227	C	T	27975227	2	4	300	1	0	0	0	0	0	0	0	1	15184	639	23	1		1	SSH2	17	27975227	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	10257577	27975227	53219983	61	30773											
RPL23	9349	broad.mit.edu	37	chr17	37006642	37006642	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctttattgttcactaTgactcctgcattatcttcaa	4	12	3	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:37006642T>C	ENST00000479035.2	-	4	445	c.313A>G	c.(313-315)Ata>Gta	p.I105V	RPL23_ENST00000394332.1_Missense_Mutation_p.I105V|SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V|RPL23_ENST00000394333.1_Intron|RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|SNORA21_ENST00000362423.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	105					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 protein import into nucleus (GO:0006610)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						TTGTTCACTATGACTCCTGCA	0.423																																						ENST00000479035.2																			0				endometrium(2)|large_intestine(1)	3						c.(313-315)Ata>Gta		ribosomal protein L23							186	152	163					17																	37006642		2203	4300	6503	SO:0001583	missense	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37006642T>C	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"L ribosomal proteins"	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.313A>G	17.37:g.37006642T>C	ENSP00000420311:p.Ile105Val					RPL23_ENST00000394333.1_Intron|RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V|RPL23_ENST00000394332.1_Missense_Mutation_p.I105V	p.I105V	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN			4	445	-			105					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	ENST00000479035.2	37	c.313A>G	CCDS11330.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607038	0.87157	.	.	ENSG00000125691	ENST00000479035;ENST00000394332	.	.	.	5.4	5.4	0.78164	Ribosomal protein L14 conserved site (1);Ribosomal protein L14 domain (2);	0.000000	0.85682	U	0.000000	D	0.83871	0.5348	M	0.87758	2.905	0.80722	D	1	B	0.27450	0.179	P	0.48304	0.573	D	0.84462	0.0594	9	0.59425	D	0.04	-1.0088	14.2406	0.65954	0.0:0.0:0.0:1.0	.	105	P62829	RL23_HUMAN	V	105	.	ENSP00000377865:I105V	I	-	1	0	RPL23	34260168	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.963000	0.87922	2.061000	0.61500	0.397000	0.26171	ATA		0.423	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		42	64	0	0	0	1	0	42	64					C	37006642	T	C	37006642	3	2	300	1	0	0	0	0	1	0	0	0	13570	1464	51	3	117	3	RPL23	17	37006642	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	9031415	37006642	44188568	62	30774											
KRT37	8688	broad.mit.edu	37	chr17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggagcttctgcgtccCgcacttgtccgcctccacca	8	18	1	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|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)				TTCTGCGTCCCGCACTTGTCC	0.627																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(625-627)Ggg>Agg		keratin 37							79	70	73					17																	39579137		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579137C>T	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.625G>A	17.37:g.39579137C>T	ENSP00000225550:p.Gly209Arg					AC003958.2_ENST00000432258.1_RNA	p.G209R	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	624	-		Breast(137;0.000496)	209			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.625G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.567558	0.45694	.	.	ENSG00000108417	ENST00000225550	D	0.89123	-2.47	4.78	2.73	0.32206	Filament (1);	0.000000	0.47455	D	0.000228	D	0.94361	0.8187	M	0.91354	3.2	0.40529	D	0.98091	D	0.89917	1.0	D	0.74023	0.982	D	0.93328	0.6698	10	0.87932	D	0	.	8.4609	0.32927	0.1536:0.764:0.0:0.0825	.	209	O76014	KRT37_HUMAN	R	209	ENSP00000225550:G209R	ENSP00000225550:G209R	G	-	1	0	KRT37	36832663	0.324000	0.24652	0.081000	0.20488	0.042000	0.13812	0.979000	0.29500	0.423000	0.26033	0.655000	0.94253	GGG		0.627	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	140	0	0	0	1	0	4	140					T	39579137	C	T	39579137	3	4	300	1	0	0	0	0	1	0	0	0	8474	652	23	1	744	1	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	2572495	39579137	41616073	63	30775											
NAGLU	4669	broad.mit.edu	37	chr17	40695939	40695939	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggccgaggccgatttctacGagcagaacagccgctaccag	12	13	1	1	rs555145190		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:40695939G>T	ENST00000225927.2	+	6	2016	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	639					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGATTTCTACGAGCAGAACAG	0.617																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12	GRCh37	CM053338	NAGLU	M		c.(1915-1917)Gag>Tag		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						25	21	22					17																	40695939		2201	4295	6496	SO:0001587	stop_gained	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695939G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1915G>T	17.37:g.40695939G>T	ENSP00000225927:p.Glu639*					RP11-400F19.8_ENST00000585572.1_RNA	p.E639*	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2016	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	639						Nonsense_Mutation	SNP	ENST00000225927.2	37	c.1915G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565372	0.98361	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	.	.	.	4.69	4.69	0.59074	.	0.050710	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.478	16.7273	0.85426	0.0:0.0:1.0:0.0	.	.	.	.	X	639;315	.	ENSP00000225927:E639X	E	+	1	0	NAGLU	37949465	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	6.297000	0.72757	2.605000	0.88082	0.561000	0.74099	GAG		0.617	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		5	12	1	0	0.0215528	1	0.0218222	5	12					T	40695939	G	T	40695939	4	4	300	1	0	0	0	0	0	1	0	0	10143	1059	37	4	1937	4	NAGLU	17	40695939	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	1116802	40695939	40499271	64	30776											
G6PC	2538	broad.mit.edu	37	chr17	41063361	41063361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccttctgcaagagtgCggtagtgcccctggcatccg	12	13	1	1	rs149486847	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:41063361C>T	ENST00000253801.2	+	5	1071	c.992C>T	c.(991-993)gCg>gTg	p.A331V	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	331					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.A331V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCAAGAGTGCGGTAGTGCCC	0.572													C|||	6	0.00119808	0.0	0.0	5008	,	,		20686	0.0		0.0	False		,,,				2504	0.0061					ENST00000253801.2																			1	Substitution - Missense(1)	p.A331V(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(991-993)gCg>gTg		glucose-6-phosphatase, catalytic subunit		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	131	128	129		992	4.9	0.9	17	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	yes	missense	G6PC	NM_000151.2	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	331/358	41063361	3,13003	2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063361C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.992C>T	17.37:g.41063361C>T	ENSP00000253801:p.Ala331Val					G6PC_ENST00000585489.1_3'UTR	p.A331V	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1071	+		Breast(137;0.000143)	331					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.992C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658290	0.47467	2.27E-4	2.33E-4	ENSG00000131482	ENST00000253801	T	0.75821	-0.97	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.39397	1.21	0.80722	D	1	P	0.48230	0.907	B	0.33295	0.161	T	0.62863	-0.6764	10	0.36615	T	0.2	.	11.735	0.51759	0.0:0.9197:0.0:0.0803	.	331	P35575	G6PC_HUMAN	V	331	ENSP00000253801:A331V	ENSP00000253801:A331V	A	+	2	0	G6PC	38316887	0.999000	0.42202	0.930000	0.37139	0.781000	0.44180	3.926000	0.56491	2.552000	0.86080	0.637000	0.83480	GCG		0.572	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		91	112	0	0	0	1	0	91	112					T	41063361	C	T	41063361	3	4	300	1	0	0	0	0	1	0	0	0	6143	768	27	1	1010	1	G6PC	17	41063361	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	367422	41063361	40131849	65	30777											
EFTUD2	9343	broad.mit.edu	37	chr17	42949920	42949920	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtggggaaaggatcaggttCtcatcagtggaatacatgct	13	6	3	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:42949920C>A	ENST00000426333.2	-	11	1185	c.888G>T	c.(886-888)gaG>gaT	p.E296D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	296	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATCAGGTTCTCATCAGTGG	0.562																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(886-888)gaG>gaT		elongation factor Tu GTP binding domain containing 2							168	144	152					17																	42949920		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42949920C>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.888G>T	17.37:g.42949920C>A	ENSP00000392094:p.Glu296Asp					EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D	p.E296D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			11	1185	-		Prostate(33;0.109)	296					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.888G>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330993	0.60853	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.76839	-1.05;-1.05	5.94	5.94	0.96194	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	N	0.16903	0.455	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15484	0.013;0.013	T	0.60219	-0.7306	10	0.12766	T	0.61	0.0747	20.3736	0.98901	0.0:1.0:0.0:0.0	.	286;296	B4DMC0;Q15029	.;U5S1_HUMAN	D	296;286;261	ENSP00000392094:E296D;ENSP00000385873:E261D	ENSP00000262414:E286D	E	-	3	2	EFTUD2	40305446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GAG		0.562	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		94	145	1	0	9.15355e-43	1	9.75576e-43	94	145					A	42949920	C	A	42949920	3	1	300	1	0	0	0	0	1	0	0	0	4961	912	32	4	2102	4	EFTUD2	17	42949920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	1886559	42949920	38245290	66	30778											
LAMA3	3909	broad.mit.edu	37	chr18	21437924	21437924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgagccaggagtgtgtgAcccagggaccggggcttgcc	17	11	0	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:21437924A>G	ENST00000313654.9	+	33	4494	c.4253A>G	c.(4252-4254)gAc>gGc	p.D1418G	LAMA3_ENST00000399516.3_Missense_Mutation_p.D1418G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1418	Domain III B.|Laminin EGF-like 12. {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)					GGAGTGTGTGACCCAGGGACC	0.552																																						ENST00000313654.9																			0				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						c.(4252-4254)gAc>gGc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						110	110	110					18																	21437924		2043	4191	6234	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21437924A>G	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.4253A>G	18.37:g.21437924A>G	ENSP00000324532:p.Asp1418Gly					LAMA3_ENST00000399516.3_Missense_Mutation_p.D1418G	p.D1418G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			33	4494	+	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)		1418			Domain III B.|Laminin EGF-like 12.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4253A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742422	0.89573	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.57595	0.39;0.39	5.43	5.43	0.79202	EGF-like, laminin (3);	.	.	.	.	T	0.76652	0.4017	M	0.88031	2.925	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.966	T	0.81788	-0.0772	9	0.72032	D	0.01	.	15.7756	0.78214	1.0:0.0:0.0:0.0	.	1418;1418	Q6VU67;Q16787	.;LAMA3_HUMAN	G	1418;1418;1416	ENSP00000324532:D1418G;ENSP00000382432:D1418G	ENSP00000324532:D1418G	D	+	2	0	LAMA3	19691922	1.000000	0.71417	0.904000	0.35570	0.955000	0.61496	8.672000	0.91181	2.188000	0.69820	0.459000	0.35465	GAC		0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	111	0	0	0	1	0	4	111					G	21437924	A	G	21437924	3	3	300	1	0	0	0	0	1	0	0	0	8607	275	10	3	4383	3	LAMA3	18	21437924	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08		21437924	56639324	67	30779											
ZNF521	25925	broad.mit.edu	37	chr18	22807299	22807299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgttggacgtgtgagTctttaagtggatcttcaagt	13	5	3	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:22807299T>C	ENST00000361524.3	-	4	731	c.583A>G	c.(583-585)Act>Gct	p.T195A	ZNF521_ENST00000538137.2_Missense_Mutation_p.T195A|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	195					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)					GACGTGTGAGTCTTTAAGTGG	0.468			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(583-585)Act>Gct		zinc finger protein 521							106	100	102					18																	22807299		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807299T>C	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.583A>G	18.37:g.22807299T>C	ENSP00000354794:p.Thr195Ala					ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.T195A	p.T195A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	731	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		195					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.583A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629263	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.11930	2.73;2.73	5.98	5.98	0.97165	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	0.33760	0.0874	L	0.55103	1.725	0.41711	D	0.989454	D	0.76494	0.999	D	0.91635	0.999	T	0.01337	-1.1381	10	0.40728	T	0.16	-18.9086	16.4622	0.84064	0.0:0.0:0.0:1.0	.	195	Q96K83	ZN521_HUMAN	A	195;229;195	ENSP00000354794:T195A;ENSP00000382352:T195A	ENSP00000354794:T195A	T	-	1	0	ZNF521	21061297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.289000	0.77006	0.533000	0.62120	ACT		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		5	62	0	0	0	1	0	5	62					C	22807299	T	C	22807299	3	2	300	1	0	0	0	0	1	0	0	0	17962	1667	58	3	3372	3	ZNF521	18	22807299	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	1369375	22807299	55269949	68	30780											
LMAN1	3998	broad.mit.edu	37	chr18	57006123	57006123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgatttcaagatgaatacGattctgtccttcaaagactt	6	8	3	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:57006123G>A	ENST00000251047.5	-	9	1735	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	340					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)	AGATGAATACGATTCTGTCCT	0.373																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(1018-1020)Cgt>Tgt		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						145	137	140					18																	57006123		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57006123G>A	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.1018C>T	18.37:g.57006123G>A	ENSP00000251047:p.Arg340Cys						p.R340C	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			9	1735	-		Colorectal(73;0.0946)	340					Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.1018C>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369961	0.95900	.	.	ENSG00000074695	ENST00000251047	T	0.56941	0.43	5.67	5.67	0.87782	.	0.048972	0.85682	D	0.000000	T	0.67776	0.2929	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	P	0.57324	0.818	T	0.69105	-0.5233	10	0.72032	D	0.01	-8.7651	19.7371	0.96210	0.0:0.0:1.0:0.0	.	340	P49257	LMAN1_HUMAN	C	340	ENSP00000251047:R340C	ENSP00000251047:R340C	R	-	1	0	LMAN1	55157103	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.415000	0.80131	2.836000	0.97738	0.655000	0.94253	CGT		0.373	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		5	104	0	0	0	1	0	5	104					A	57006123	G	A	57006123	3	1	300	1	0	0	0	0	1	0	0	0	8836	1058	37	1	534	1	LMAN1	18	57006123	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	34198824	57006123	21071125	69	30781											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	8	7	3	2	rs200531878		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					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.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		4	105	0	0	0	1	0	4	105					G	14938184	A	G	14938184	2	3	300	1	0	0	0	0	0	0	0	1	11216	456	16	3		3	OR7A5	19	14938184	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		14938184	44190799	70	30782											
CIC	23152	broad.mit.edu	37	chr19	42794910	42794911	+	Frame_Shift_Del	DEL	CT	CT	-													atggggccccagcagctcccCtgtcccgtcctgccgccacc							TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:42794910_42794911delCT	ENST00000575354.2	+	10	2030_2031	c.1990_1991delCT	c.(1990-1992)ctgfs	p.L664fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.L1573fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	664	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)				AGCAGCTCCCCTGTCCCGTCCT	0.688			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(4717-4719)gfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794910_42794911delCT	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.1990_1991delCT	19.37:g.42794910_42794911delCT	ENSP00000458663:p.Leu664fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L664fs	p.L1573fs			Q96RK0	CIC_HUMAN			11	4785_4786	+		Prostate(69;0.00682)	664			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4717_4718delCT	CCDS12601.1																																																																																				0.688	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	9						17	9	---	---	---	---	-	42794911	CT	-	42794910	7	5	300	1	0	1	0	1	0	0	0	0	3424	680	24	0	2028	0	CIC	19	42794910	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08	27856726	42794910	16334073	71	30783											
SIRPD	128646	broad.mit.edu	37	chr20	1517874	1517874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttctctcaggcagggcCgagaggcaggtatgggcatc	15	10	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr20:1517874C>T	ENST00000381623.3	-	3	1693	c.504G>A	c.(502-504)tcG>tcA	p.S168S	SIRPD_ENST00000381621.1_Silent_p.S169S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	168						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGCAGGGCCGAGAGGCAGG	0.592																																						ENST00000381623.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(502-504)tcG>tcA		signal-regulatory protein delta							138	124	129					20																	1517874		2203	4300	6503	SO:0001819	synonymous_variant	128646					extracellular region		g.chr20:1517874C>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16248	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type substrate 1-like 2"	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.504G>A	20.37:g.1517874C>T						SIRPD_ENST00000381621.1_Silent_p.S169S	p.S168S			Q9H106	SIRPD_HUMAN			3	1693	-			168					B3KS88|Q5TFQ6	Silent	SNP	ENST00000381623.3	37	c.504G>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062544	0.07273	.	.	ENSG00000125900	ENST00000429387	.	.	.	2.97	-5.94	0.02247	.	.	.	.	.	T	0.15998	0.0385	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.3117	0.02099	0.3149:0.1136:0.3794:0.1921	.	.	.	.	Q	51	.	.	R	-	2	0	SIRPD	1465874	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.656000	0.05342	-1.371000	0.02141	-0.440000	0.05779	CGG		0.592	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		60	104	0	0	0	1	0	60	104					T	1517874	C	T	1517874	2	4	300	1	0	0	0	0	0	0	0	1	14335	639	23	1		1	SIRPD	20	1517874	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08		1517874	61507646	72	30784											
CRLF2	64109	broad.mit.edu	37	chrX	1317467	1317467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctctgaccagtcgcttgGgtatgtgtctggcccatata	10	12	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:1317467G>T	ENST00000381567.3	-	5	597	c.598C>A	c.(598-600)Cca>Aca	p.P200T	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	200	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CAGTCGCTTGGGTATGTGTCT	0.532			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"																																	ENST00000381567.3				Dom	yes		"X,Y"	Xp22.3; Yp11.3	64109	"Mis, T"	cytokine receptor-like factor 2			L	"P2RY8, IGH@"		"B-ALL, Downs associated ALL"		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(598-600)Cca>Aca		cytokine receptor-like factor 2							417	439	431					X																	1317467		2109	4210	6319	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1317467G>T	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.598C>A	X.37:g.1317467G>T	ENSP00000370979:p.Pro200Thr					CRLF2_ENST00000467626.1_Intron	p.P200T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			5	597	-		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)	200			Fibronectin type-III.		Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.598C>A		.	.	.	.	.	.	.	.	.	.	g	9.379	1.072425	0.20147	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	T;T	0.68765	-0.35;-0.35	1.88	1.88	0.25563	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.290655	0.30177	U	0.010240	T	0.77068	0.4076	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.66060	-0.6017	9	0.72032	D	0.01	-8.1266	9.4951	0.38984	0.0:0.0:1.0:0.0	.	200	Q9HC73	CRLF2_HUMAN	T	200	ENSP00000370979:P200T;ENSP00000383641:P200T	ENSP00000370979:P200T	P	-	1	0	CRLF2	1277467	0.638000	0.27225	0.033000	0.17914	0.016000	0.09150	2.312000	0.43726	0.744000	0.32741	0.360000	0.22052	CCA		0.532	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		67	103	1	0	1.46168e-27	1	1.53761e-27	67	103					T	1317467	G	T	1317467	3	4	300	1	0	0	0	0	1	0	0	0	3887	1232	43	4	183	4	CRLF2	23	1317467	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1317467	153953093	73	30785											
MYCBP	26292	broad.mit.edu	37	chr1	39330370	39330370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcttctcctcctgaggtGgttcatactgagcaagctat	9	12	2	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:39330370G>A	ENST00000397572.2	-	5	1083	c.284C>T	c.(283-285)cCa>cTa	p.P95L	RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	95					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CTCCTGAGGTGGTTCATACTG	0.328																																					Esophageal Squamous(155;912 1855 21572 25911 44247)	ENST00000397572.2																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(283-285)cCa>cTa		MYC binding protein							76	71	73					1																	39330370		2203	4300	6503	SO:0001583	missense	26292				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	mitochondrion|nucleus	protein binding|transcription coactivator activity	g.chr1:39330370G>A	AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"associate of myc-1"	606535	"c-myc binding protein"			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.284C>T	1.37:g.39330370G>A	ENSP00000380702:p.Pro95Leu					GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA	p.P95L	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN			5	1083	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	95					B2R4N0|Q5TA64|Q96HE2	Missense_Mutation	SNP	ENST00000397572.2	37	c.284C>T	CCDS431.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531931	0.45073	.	.	ENSG00000214114	ENST00000397572	.	.	.	5.51	5.51	0.81932	.	0.138665	0.48767	U	0.000169	T	0.54615	0.1869	L	0.29908	0.895	0.80722	D	1	B	0.19073	0.033	B	0.23018	0.043	T	0.52888	-0.8515	9	0.66056	D	0.02	0.7227	17.5956	0.88011	0.0:0.0:1.0:0.0	.	95	Q99417	MYCBP_HUMAN	L	95	.	ENSP00000380702:P95L	P	-	2	0	MYCBP	39102957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.033000	0.64146	2.577000	0.86979	0.563000	0.77884	CCA		0.328	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001209.1	NM_012333		9	47	0	0	0	1	0	9	47					A	39330370	G	A	39330370	3	1	301	1	0	0	0	0	1	0	0	0	10017	1348	47	2	31	2	MYCBP	1	39330370	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		39330370	209920251	1	30786											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	12	7	1	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	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	885	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)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				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						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165	180	175					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	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.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		5	257	0	0	0	1	0	5	257					T	43783268	C	T	43783268	3	4	301	1	0	0	0	0	1	0	0	0	15890	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	4452898	43783268	205467353	2	30787											
SCN1A	6323	broad.mit.edu	37	chr2	166897764	166897764	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctactgtaagcacatTattgaaatggtccgtcattg	8	8	1	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:166897764T>A	ENST00000303395.4	-	13	2391	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.N798Y|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	798					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)	GTAAGCACATTATTGAAATGG	0.363																																						ENST00000423058.2																			0				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						c.(2392-2394)Aat>Tat		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						80	72	75					2																	166897764		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897764T>A	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.2392A>T	2.37:g.166897764T>A	ENSP00000303540:p.Asn798Tyr					AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.N798Y|AC010127.3_ENST00000595268.1_RNA	p.N798Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			13	2409	-			798					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2392A>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	1.021	-0.684857	0.03328	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.39	-2.09	0.07232	.	0.345579	0.28166	N	0.016360	D	0.93703	0.7988	L	0.55481	1.735	0.28406	N	0.918406	B;B;B	0.14805	0.005;0.011;0.0	B;B;B	0.17722	0.019;0.014;0.001	D	0.87483	0.2422	10	0.62326	D	0.03	.	8.5615	0.33514	0.0:0.167:0.5378:0.2951	.	787;770;798	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	798;798;787;770	ENSP00000407030:N798Y;ENSP00000303540:N798Y;ENSP00000364554:N787Y;ENSP00000386312:N770Y	ENSP00000303540:N798Y	N	-	1	0	SCN1A	166606010	0.002000	0.14202	0.926000	0.36857	0.871000	0.50021	-0.571000	0.05889	-0.251000	0.09542	-0.438000	0.05819	AAT		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		18	60	0	0	0	1	0	18	60					A	166897764	T	A	166897764	3	1	301	1	0	0	0	0	1	0	0	0	13914	1754	61	5	3693	5	SCN1A	2	166897764	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		166897764	76301609	3	30788											
TTN	7273	broad.mit.edu	37	chr2	179585690	179585690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggcgtcaccaacacCattatgagcctcacaaatgt	8	13	2	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:179585690C>A	ENST00000591111.1	-	77	22329	c.22105G>T	c.(22105-22107)Ggt>Tgt	p.G7369C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G7686C|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12929	Ig-like 55.				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)			TCACCAACACCATTATGAGCC	0.433																																						ENST00000589042.1																			0				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						c.(23056-23058)Ggt>Tgt		titin							76	77	77					2																	179585690		2051	4206	6257	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585690C>A	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.22105G>T	2.37:g.179585690C>A	ENSP00000465570:p.Gly7369Cys					TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7369C|TTN_ENST00000359218.5_Intron	p.G7686C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	23280	-			7369			Ig-like 59.		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	ENST00000591111.1	37	c.23056G>T		.	.	.	.	.	.	.	.	.	.	C	12.91	2.078282	0.36662	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67487	0.2898	L	0.37897	1.145	0.80722	D	1	P	0.50528	0.936	P	0.50791	0.65	T	0.69610	-0.5099	9	0.87932	D	0	.	15.4294	0.75081	0.1705:0.8295:0.0:0.0	.	7369	Q8WZ42	TITIN_HUMAN	C	6442	ENSP00000343764:G6442C	ENSP00000343764:G6442C	G	-	1	0	TTN	179293935	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.428000	0.52792	2.937000	0.99478	0.650000	0.86243	GGT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	60	1	0	0.014758	1	0.014758	5	60					A	179585690	C	A	179585690	3	1	301	1	0	0	0	0	1	0	0	0	16732	594	21	4	81609	4	TTN	2	179585690	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	12687926	179585690	63613683	4	30789											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			11	48	0	0	0	1	0	11	48					T	209113112	C	T	209113112	3	4	301	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	29527422	209113112	34086261	5	30790											
TRANK1	9881	broad.mit.edu	37	chr3	36875229	36875229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgcagcttctgctaAgcgtttccgagacttcaaga	10	11	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:36875229A>G	ENST00000429976.2	-	21	5960	c.5713T>C	c.(5713-5715)Tta>Cta	p.L1905L	TRANK1_ENST00000301807.6_Silent_p.L1355L|TRANK1_ENST00000428977.2_Silent_p.L1355L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1905							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCTGCTAAGCGTTTCCGA	0.512																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4063-4065)Tta>Cta		tetratricopeptide repeat and ankyrin repeat containing 1							118	117	117					3																	36875229		1968	4159	6127	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875229A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5713T>C	3.37:g.36875229A>G						TRANK1_ENST00000428977.2_Silent_p.L1355L|TRANK1_ENST00000429976.2_Silent_p.L1905L	p.L1355L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	5960	-			1905					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.4063T>C	CCDS46789.2																																																																																				0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		8	107	0	0	0	1	0	8	107					G	36875229	A	G	36875229	2	3	301	1	0	0	0	0	0	0	0	1	16451	69	3	3		3	TRANK1	3	36875229	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08		36875229	161147201	6	30791											
ITIH3	3699	broad.mit.edu	37	chr3	52836815	52836815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaccattgagcagctgctgGagaagcggtgagcagagtcc	14	10	1	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:52836815G>A	ENST00000449956.2	+	13	1708	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	568					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCAGCTGCTGGAGAAGCGGTG	0.622																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1702-1704)Gag>Aag		inter-alpha-trypsin inhibitor heavy chain 3							56	62	60					3																	52836815		2101	4259	6360	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52836815G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1702G>A	3.37:g.52836815G>A	ENSP00000415769:p.Glu568Lys					ITIH3_ENST00000416872.2_Intron	p.E568K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	13	1708	+			568					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.1702G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161124	0.78226	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000449956	T	0.17054	2.3	5.28	5.28	0.74379	.	0.277370	0.39687	N	0.001290	T	0.22704	0.0548	M	0.66439	2.03	0.45867	D	0.998723	P	0.39071	0.658	B	0.37047	0.24	T	0.01810	-1.1269	9	.	.	.	-16.5601	17.8577	0.88771	0.0:0.0:1.0:0.0	.	568	Q06033	ITIH3_HUMAN	K	568;556;563;568	ENSP00000415769:E568K	.	E	+	1	0	ITIH3	52811855	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.730000	0.74780	2.746000	0.94184	0.655000	0.94253	GAG		0.622	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	33	0	0	0	1	0	4	33					A	52836815	G	A	52836815	3	1	301	1	0	0	0	0	1	0	0	0	7905	1175	41	2	1752	2	ITIH3	3	52836815	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	15961586	52836815	145185615	7	30792											
NKX3-2	579	broad.mit.edu	37	chr4	13543758	13543758	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtattgtctctggtcgtcGcgcaccagcacctttacggc	11	13	1	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:13543758G>C	ENST00000382438.5	-	2	1496	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|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 negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647																																						ENST00000382438.5																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(859-861)cgC>cgG		NK3 homeobox 2							34	31	32					4																	13543758		2202	4300	6502	SO:0001819	synonymous_variant	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543758G>C	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.861C>G	4.37:g.13543758G>C							p.R287R	NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN			2	1496	-			287					Q2M2I7	Silent	SNP	ENST00000382438.5	37	c.861C>G	CCDS3410.1																																																																																				0.647	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			7	19	0	0	0	1	0	7	19					C	13543758	G	C	13543758	2	2	301	1	0	0	0	0	0	0	0	1	10456	1074	38	4		4	NKX3-2	4	13543758	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		13543758	177610518	8	30793											
RBPJ	3516	broad.mit.edu	37	chr4	26432517	26432517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaatccttcgagccaAttcaagccaggtgcccccta	9	14	1	0	rs1064404		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:26432517A>G	ENST00000361572.6	+	11	1585	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000342320.4_Missense_Mutation_p.N450S|RBPJ_ENST00000504907.1_3'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	464					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTCGAGCCAATTCAAGCCAG	0.498																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1348-1350)aAt>aGt		recombination signal binding protein for immunoglobulin kappa J region							63	64	64					4																	26432517		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432517A>G	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1391A>G	4.37:g.26432517A>G	ENSP00000354528:p.Asn464Ser					RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000361572.6_Missense_Mutation_p.N464S	p.N450S			Q06330	SUH_HUMAN			11	1525	+		Breast(46;0.0503)	464					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1349A>G	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	A	6.874	0.530669	0.13127	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320	T;T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.43;1.42;1.43;1.42	5.31	0.12	0.14691	.	0.356314	0.35378	N	0.003257	T	0.12008	0.0292	N	0.08118	0	0.30364	N	0.783538	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.34378	-0.9831	10	0.09843	T	0.71	-5.5964	9.144	0.36921	0.7197:0.0:0.2803:0.0	rs1064404;rs1064404	451;450;449;464	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	S	449;464;464;451;450;429;450	ENSP00000305815:N449S;ENSP00000345206:N464S;ENSP00000354528:N464S;ENSP00000339699:N451S;ENSP00000347659:N450S;ENSP00000423907:N429S;ENSP00000340124:N450S	ENSP00000345206:N464S	N	+	2	0	RBPJ	26041615	0.150000	0.22732	0.137000	0.22149	0.996000	0.88848	0.769000	0.26604	-0.179000	0.10654	0.533000	0.62120	AAT		0.498	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		8	84	0	0	0	1	0	8	84					G	26432517	A	G	26432517	3	3	301	1	0	0	0	0	1	0	0	0	13161	101	4	3	1496	3	RBPJ	4	26432517	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12888759	26432517	164721759	9	30794											
FAT4	79633	broad.mit.edu	37	chr4	126239282	126239282	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcccagcttgtagtaactctCctagatgtgaatgatgaaaa	9	8	1	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:126239282C>G	ENST00000394329.3	+	1	1729	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	572	Cadherin 5. {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						TAGTAACTCTCCTAGATGTGA	0.498											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				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						c.(1714-1716)ctC>ctG		FAT atypical cadherin 4							51	53	53					4																	126239282		1954	4156	6110	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239282C>G	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.1716C>G	4.37:g.126239282C>G			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.L572L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	1729	+			572			Cadherin 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.1716C>G	CCDS3732.3																																																																																				0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	58	0	0	0	1	0	6	58					G	126239282	C	G	126239282	2	3	301	1	0	0	0	0	0	0	0	1	5692	842	30	4		4	FAT4	4	126239282	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	99806765	126239282	64914994	10	30795											
DCLK2	166614	broad.mit.edu	37	chr4	151153981	151153981	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaccagagaatctcttgGtatgtcatccctgctttttc	6	11	3	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:151153981G>A	ENST00000296550.7	+	10	2320		c.e10+1		DCLK2_ENST00000302176.8_Splice_Site|DCLK2_ENST00000506325.1_Splice_Site	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATCTCTTGGTATGTCATCC	0.438																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.e10+1		doublecortin-like kinase 2							222	194	203					4																	151153981		2203	4300	6503	SO:0001630	splice_region_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153981G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1566+1G>A	4.37:g.151153981G>A						DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site		NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			10	2320	+	all_hematologic(180;0.151)							C9J5Q9|Q59GC8|Q8N399	Splice_Site	SNP	ENST00000296550.7	37		CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206723	0.95033	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCLK2	151373431	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.729000	0.98795	2.865000	0.98341	0.655000	0.94253	.		0.438	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	Intron	9	112	0	0	0	1	0	9	112					A	151153981	G	A	151153981	5	1	301	1	0	0	0	0	0	0	1	0	4292	1275	44	2	1605	2	DCLK2	4	151153981	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	24914699	151153981	40000295	11	30796											
CRHBP	1393	broad.mit.edu	37	chr5	76259212	76259212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggagactttgtggagctGctgggaggaactggattgga	17	4	0	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:76259212G>A	ENST00000274368.4	+	6	1160	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	246					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTGTGGAGCTGCTGGGAGGAA	0.458																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(736-738)ctG>ctA		corticotropin releasing hormone binding protein							173	175	175					5																	76259212		2203	4300	6503	SO:0001819	synonymous_variant	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259212G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.738G>A	5.37:g.76259212G>A						CRHBP_ENST00000514258.1_3'UTR	p.L246L	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1160	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	246					Q53F32|Q6FHT5	Silent	SNP	ENST00000274368.4	37	c.738G>A	CCDS4034.1																																																																																				0.458	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		9	104	0	0	0	1	0	9	104					A	76259212	G	A	76259212	2	1	301	1	0	0	0	0	0	0	0	1	3870	1306	46	2		2	CRHBP	5	76259212	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		76259212	104656048	12	30797											
PCDHA3	56145	broad.mit.edu	37	chr5	140181052	140181052	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtgaattctcggatAgaccgcgaggaactgtgcgg	14	7	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140181052A>C	ENST00000522353.2	+	1	270	c.270A>C	c.(268-270)atA>atC	p.I90I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	90	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(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)			ATTCTCGGATAGACCGCGAGG	0.592																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(268-270)atA>atC									124	140	135					5																	140181052		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140181052A>C	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.270A>C	5.37:g.140181052A>C						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	p.I90I	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	270	+								O75286	Silent	SNP	ENST00000522353.2	37	c.270A>C	CCDS54915.1																																																																																				0.592	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	292	0	0	0	1	0	5	292					C	140181052	A	C	140181052	2	2	301	1	0	0	0	0	0	0	0	1	11525	410	15	5		5	PCDHA3	5	140181052	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08	63921840	140181052	40734208	13	30798											
PCDHB3	56132	broad.mit.edu	37	chr5	140480508	140480508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaatgagaaattggaccGggaggagctatgcggcccca	14	10	0	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140480508G>A	ENST00000231130.2	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	92	Cadherin 1. {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)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGGACCGGGAGGAGCTA	0.483																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(274-276)cGg>cAg									84	90	88					5																	140480508		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480508G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.275G>A	5.37:g.140480508G>A	ENSP00000231130:p.Arg92Gln					AC005754.7_ENST00000607216.1_RNA	p.R92Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	275	+			92			Cadherin 1.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.275G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404657	0.83230	.	.	ENSG00000113205	ENST00000231130	T	0.53206	0.63	4.7	4.7	0.59300	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82403	0.5029	H	0.99286	4.5	0.35609	D	0.808506	D	0.89917	1.0	D	0.97110	1.0	D	0.92863	0.6307	9	0.87932	D	0	.	17.6382	0.88129	0.0:0.0:1.0:0.0	.	92	Q9Y5E6	PCDB3_HUMAN	Q	92	ENSP00000231130:R92Q	ENSP00000231130:R92Q	R	+	2	0	PCDHB3	140460692	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	9.394000	0.97261	2.305000	0.77605	0.655000	0.94253	CGG		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		10	104	0	0	0	1	0	10	104					A	140480508	G	A	140480508	3	1	301	1	0	0	0	0	1	0	0	0	11543	1116	39	1	277	1	PCDHB3	5	140480508	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	299456	140480508	40434752	14	30799											
LSM11	134353	broad.mit.edu	37	chr5	157178479	157178479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcacatccgcactttcaAgggacttcggggcgtctgta	11	11	3	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:157178479A>G	ENST00000286307.5	+	2	586	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	177	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCACTTTCAAGGGACTTCGG	0.507																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(529-531)aAg>aGg		LSM11, U7 small nuclear RNA associated							139	133	135					5																	157178479		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157178479A>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.530A>G	5.37:g.157178479A>G	ENSP00000286307:p.Lys177Arg						p.K177R	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	586	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	177			SM 1.		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.530A>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.858863	0.91433	.	.	ENSG00000155858	ENST00000286307	T	0.42900	0.96	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	N	0.17872	0.535	0.58432	D	0.999992	D	0.52996	0.957	P	0.55785	0.784	T	0.47058	-0.9146	10	0.62326	D	0.03	-16.256	16.5764	0.84681	1.0:0.0:0.0:0.0	.	177	P83369	LSM11_HUMAN	R	177	ENSP00000286307:K177R	ENSP00000286307:K177R	K	+	2	0	LSM11	157111057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.488000	0.81441	2.371000	0.80710	0.533000	0.62120	AAG		0.507	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		7	90	0	0	0	1	0	7	90					G	157178479	A	G	157178479	3	3	301	1	0	0	0	0	1	0	0	0	9052	72	3	3	536	3	LSM11	5	157178479	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	16697971	157178479	23736781	15	30800											
CRISP1	167	broad.mit.edu	37	chr6	49814258	49814258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtggtcagtagttatgTcatcatccgttgttgtccat	10	7	3	0	rs185407783		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:49814258T>C	ENST00000335847.4	-	5	511	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G|CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	137	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGTTATGTCATCATCCGT	0.403																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(409-411)gAc>gGc		cysteine-rich secretory protein 1							433	341	372					6																	49814258		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814258T>C	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.410A>G	6.37:g.49814258T>C	ENSP00000338276:p.Asp137Gly					CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G|CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G	p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			5	511	-	Lung NSC(77;0.0358)		137					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.410A>G	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	T	3.323	-0.138241	0.06669	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	5.35	-10.7	0.00240	CAP domain (3);	1.042900	0.07610	N	0.925165	T	0.00666	0.0022	N	0.05259	-0.085	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.45160	-0.9280	9	.	.	.	.	4.7286	0.12954	0.2499:0.4711:0.0922:0.1868	.	137;137	P54107-2;P54107	.;CRIS1_HUMAN	G	137	ENSP00000425020:D137G;ENSP00000338276:D137G;ENSP00000348044:D137G;ENSP00000331317:D137G;ENSP00000427589:D137G;ENSP00000441798:D137G	.	D	-	2	0	CRISP1	49922217	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.218000	0.02976	-2.433000	0.00555	-1.054000	0.02325	GAC		0.403	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		6	79	0	0	0	1	0	6	79					C	49814258	T	C	49814258	3	2	301	1	0	0	0	0	1	0	0	0	3879	1667	58	3	355	3	CRISP1	6	49814258	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		49814258	121300809	16	30801											
TINAG	27283	broad.mit.edu	37	chr6	54254705	54254705	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcttggggccaactgacGagttctgatgaaccataaca	11	10	1	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:54254705G>A	ENST00000259782.4	+	11	1509	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCCAACTGACGAGTTCTGATG	0.408																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1411-1413)acG>acA		tubulointerstitial nephritis antigen							126	124	125					6																	54254705		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254705G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1413G>A	6.37:g.54254705G>A							p.T471T	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1509	+	Lung NSC(77;0.0518)		471					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1413G>A	CCDS4955.1																																																																																				0.408	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		9	123	0	0	0	1	0	9	123					A	54254705	G	A	54254705	2	1	301	1	0	0	0	0	0	0	0	1	15918	1045	37	1		1	TINAG	6	54254705	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08	4440447	54254705	116860362	17	30802											
C6orf165	154313	broad.mit.edu	37	chr6	88125415	88125415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caattttagtggaatttctcGaagaacatcaccgggtccta	8	9	2	1	rs377549577		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:88125415G>A	ENST00000507897.1	+	5	378	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	99										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		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;0.0419)		GGAATTTCTCGAAGAACATCA	0.363																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(295-297)Gaa>Aaa		chromosome 6 open reading frame 165		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64	67	66		295	3.8	0.9	6		66	2,8596	1.2+/-3.3	0,2,4297	no	missense	C6orf165	NM_001031743.2	56	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign	99/623	88125415	3,13001	2203	4299	6502	SO:0001583	missense	154313							g.chr6:88125415G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.295G>A	6.37:g.88125415G>A	ENSP00000426769:p.Glu99Lys					C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K	p.E99K			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	5	378	+		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)	99					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.295G>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698468	0.30142	2.27E-4	2.33E-4	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.22336	1.96;1.96	5.6	3.78	0.43462	.	0.300125	0.34777	N	0.003696	T	0.04497	0.0123	L	0.31207	0.915	0.39753	D	0.971913	B;B	0.24576	0.106;0.029	B;B	0.18561	0.022;0.007	T	0.24083	-1.0170	10	0.12430	T	0.62	.	8.2837	0.31915	0.1065:0.3487:0.5448:0.0	.	99;99	Q8IYR0;E1P509	CF165_HUMAN;.	K	99	ENSP00000358575:E99K;ENSP00000422494:E99K	ENSP00000358575:E99K	E	+	1	0	C6orf165	88182134	0.966000	0.33281	0.924000	0.36721	0.928000	0.56348	1.551000	0.36233	0.665000	0.31066	0.585000	0.79938	GAA		0.363	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		3	48	0	0	0	1	0	3	48					A	88125415	G	A	88125415	3	1	301	1	0	0	0	0	1	0	0	0	2341	1059	37	1	309	1	C6orf165	6	88125415	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	33870710	88125415	82989652	18	30803											
TBP	6908	broad.mit.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcaacagcagcagcagca	11	14	0	0	rs71815788|rs55736770	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000540980.1_Silent_p.Q52Q|TBP_ENST00000230354.6_Silent_p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	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.Q72del(3)		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)		agcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)caA>caG		TATA box binding protein							12	14	13					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871040A>G	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.216A>G	6.37:g.170871040A>G						TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	72			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.216A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	68	0	0	0	1	0	4	68					G	170871040	A	G	170871040	2	3	301	1	0	0	0	0	0	0	0	1	15641	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08	82745625	170871040	244027	19	30804											
MUC17	140453	broad.mit.edu	37	chr7	100679992	100679992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccggtactcagttctgaGgctagcaccctttcagcaac	9	14	3	1	rs148096926	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:100679992G>T	ENST00000306151.4	+	3	5359	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1765	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)					TCAGTTCTGAGGCTAGCACCC	0.502																																						ENST00000306151.4																			0				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						c.(5293-5295)gaG>gaT		mucin 17, cell surface associated							290	303	299					7																	100679992		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679992G>T	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.5295G>T	7.37:g.100679992G>T	ENSP00000302716:p.Glu1765Asp						p.E1765D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5359	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1765			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5295G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.171	-0.640978	0.03557	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	0.824	-1.65	0.08291	.	.	.	.	.	T	0.01353	0.0044	L	0.27053	0.805	0.09310	N	1	P	0.50156	0.932	B	0.38954	0.286	T	0.45673	-0.9245	9	0.13108	T	0.6	.	4.0827	0.09934	0.5284:0.0:0.4716:0.0	.	1765	Q685J3	MUC17_HUMAN	D	1765	ENSP00000302716:E1765D	ENSP00000302716:E1765D	E	+	3	2	MUC17	100466712	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-1.344000	0.02639	-0.647000	0.05444	-1.368000	0.01194	GAG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		87	416	1	0	3.62344e-47	1	4.03254e-47	87	416					T	100679992	G	T	100679992	3	4	301	1	0	0	0	0	1	0	0	0	9974	991	35	4	5305	4	MUC17	7	100679992	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		100679992	58458671	20	30805											
ST18	9705	broad.mit.edu	37	chr8	53079464	53079464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaaggctgcggtggtgCgggtagagccctgtcacgtg	17	11	1	1	rs73587538		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:53079464C>T	ENST00000276480.7	-	11	1835	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	384					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)				TGCGGTGGTGCGGGTAGAGCC	0.557																																						ENST00000276480.7																			0				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						c.(1150-1152)ccG>ccA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							105	104	105					8																	53079464		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53079464C>T	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.1152G>A	8.37:g.53079464C>T							p.P384P	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			11	1835	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	384					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1152G>A	CCDS6149.1																																																																																				0.557	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			5	106	0	0	0	1	0	5	106					T	53079464	C	T	53079464	2	4	301	1	0	0	0	0	0	0	0	1	15211	755	27	1		1	ST18	8	53079464	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08		53079464	93284558	21	30806											
NCOA2	10499	broad.mit.edu	37	chr8	71044226	71044226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagtcatctggagaactgCcaaatggctgcctgtaaaga	11	9	2	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:71044226C>T	ENST00000452400.2	-	16	3351	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1057					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)		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)			TGGAGAACTGCCAAATGGCTG	0.453			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"RUNXBP2, HEY1"		"AML, Chondrosarcoma"	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3169-3171)gGc>gAc		nuclear receptor coactivator 2							49	48	49					8																	71044226		1948	4154	6102	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71044226C>T	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.3170G>A	8.37:g.71044226C>T	ENSP00000399968:p.Gly1057Asp					NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	p.G1057D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		16	3351	-	Breast(64;0.201)		1057					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3170G>A	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.83|17.83	3.486411|3.486411	0.63962|0.63962	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06849	.|4.79;3.25	5.81|5.81	4.01|4.01	0.46588|0.46588	.|.	.|0.409870	.|0.28488	.|N	.|0.015180	T|T	0.21631|0.21631	0.0521|0.0521	M|M	0.66939|0.66939	2.045|2.045	0.49915|0.49915	D|D	0.999839|0.999839	.|D;D	.|0.65815	.|0.995;0.968	.|P;P	.|0.60609	.|0.877;0.587	T|T	0.00356|0.00356	-1.1793|-1.1793	5|10	.|0.44086	.|T	.|0.13	.|.	11.601|11.601	0.51003|0.51003	0.0:0.8076:0.1254:0.067|0.0:0.8076:0.1254:0.067	.|.	.|145;1057	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	T|D	158|1057;145	.|ENSP00000399968:G1057D;ENSP00000267974:G145D	.|ENSP00000267974:G145D	A|G	-|-	1|2	0|0	NCOA2|NCOA2	71206780|71206780	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.689000|0.689000	0.40095|0.40095	3.817000|3.817000	0.55668|0.55668	0.802000|0.802000	0.34089|0.34089	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.453	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			3	25	0	0	0	1	0	3	25					T	71044226	C	T	71044226	3	4	301	1	0	0	0	0	1	0	0	0	10229	739	26	2	1256	2	NCOA2	8	71044226	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	17964762	71044226	75319796	22	30807											
ROR2	4920	broad.mit.edu	37	chr9	94486641	94486641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggacagtcatcggggcaaGgcagcacctgccggttccgg	16	13	1	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:94486641G>A	ENST00000375708.3	-	9	2333	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P572L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCGGGGCAAGGCAGCACCTG	0.642																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2134-2136)cCt>cTt		receptor tyrosine kinase-like orphan receptor 2							64	53	57					9																	94486641		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486641G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2135C>T	9.37:g.94486641G>A	ENSP00000364860:p.Pro712Leu					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P572L	p.P712L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2333	-			712			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2135C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398375	0.25205	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83075	-1.68;-1.68	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41938	D	0.000792	T	0.80773	0.4687	L	0.49256	1.55	0.58432	D	0.999992	B;B	0.30526	0.045;0.283	B;B	0.37731	0.014;0.257	T	0.80783	-0.1228	10	0.59425	D	0.04	.	11.2494	0.49017	0.0831:0.0:0.9169:0.0	.	712;572	Q01974;B1APY4	ROR2_HUMAN;.	L	572;712	ENSP00000364867:P572L;ENSP00000364860:P712L	ENSP00000364860:P712L	P	-	2	0	ROR2	93526462	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	5.470000	0.66756	2.415000	0.81967	0.561000	0.74099	CCT		0.642	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			4	55	0	0	0	1	0	4	55					A	94486641	G	A	94486641	3	1	301	1	0	0	0	0	1	0	0	0	13527	1000	35	2	700	2	ROR2	9	94486641	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		94486641	46726790	23	30808											
RNF183	138065	broad.mit.edu	37	chr9	116060197	116060197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccttccaggatgacatGgtggggctccaggcggagca	16	10	0	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:116060197G>A	ENST00000478815.1	-	1	1848	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y|RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y			Q96D59	RN183_HUMAN	ring finger protein 183	90						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						AGGATGACATGGTGGGGCTCC	0.652																																						ENST00000478815.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(268-270)Cat>Tat		ring finger protein 183							37	44	41					9																	116060197		2128	4254	6382	SO:0001583	missense	138065					integral to membrane	zinc ion binding	g.chr9:116060197G>A		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"RING-type (C3HC4) zinc fingers"	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.268C>T	9.37:g.116060197G>A	ENSP00000419454:p.His90Tyr					RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y|RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y	p.H90Y			Q96D59	RN183_HUMAN			1	1848	-			90						Missense_Mutation	SNP	ENST00000478815.1	37	c.268C>T	CCDS43866.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172852	0.57584	.	.	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.17	5.17	0.71159	.	0.600320	0.15215	N	0.274300	T	0.21022	0.0506	N	0.14661	0.345	0.38369	D	0.94482	D	0.62365	0.991	P	0.54544	0.755	T	0.09885	-1.0654	10	0.56958	D	0.05	-34.5331	16.2083	0.82142	0.0:0.0:1.0:0.0	.	90	Q96D59	RN183_HUMAN	Y	90	ENSP00000417176:H90Y;ENSP00000420740:H90Y;ENSP00000419454:H90Y;ENSP00000417943:H90Y	ENSP00000417943:H90Y	H	-	1	0	RNF183	115100018	1.000000	0.71417	0.997000	0.53966	0.295000	0.27426	3.251000	0.51453	2.692000	0.91855	0.655000	0.94253	CAT		0.652	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051		4	122	0	0	0	1	0	4	122					A	116060197	G	A	116060197	3	1	301	1	0	0	0	0	1	0	0	0	13467	1348	47	2	314	2	RNF183	9	116060197	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	21573556	116060197	25153234	24	30809											
GAPVD1	26130	broad.mit.edu	37	chr9	128094894	128094894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactagtccagacatggAtgaaataactcacggtaaga	9	8	2	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:128094894A>G	ENST00000495955.1	+	15	2704	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	805					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						CCAGACATGGATGAAATAACT	0.448																																						ENST00000470056.1																			0				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						c.(2413-2415)gAt>gGt		GTPase activating protein and VPS9 domains 1							88	88	88					9																	128094894		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128094894A>G		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.2414A>G	9.37:g.128094894A>G	ENSP00000419063:p.Asp805Gly					GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G	p.D805G			Q14C86	GAPD1_HUMAN			13	2574	+			805					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2414A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.31|19.31	3.802522|3.802522	0.70682|0.70682	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329	T;T;T;T;T;T;T;T;T|.	0.14266|.	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.049381|.	0.85682|.	D|.	0.000000|.	T|T	0.48205|0.48205	0.1487|0.1487	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999994|0.999994	B;B;B;B;B;P|.	0.39480|.	0.135;0.083;0.135;0.135;0.135;0.675|.	B;B;B;B;B;B|.	0.41813|.	0.157;0.075;0.101;0.101;0.101;0.367|.	T|T	0.45673|0.45673	-0.9245|-0.9245	10|5	0.40728|.	T|.	0.16|.	.|.	15.148|15.148	0.72674|0.72674	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	805;805;805;784;805;805|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	G|V	805;805;805;805;784;805;805;805;784|668	ENSP00000419767:D805G;ENSP00000377665:D805G;ENSP00000377664:D805G;ENSP00000265956:D805G;ENSP00000377645:D784G;ENSP00000419063:D805G;ENSP00000418747:D805G;ENSP00000297933:D805G;ENSP00000309582:D784G|.	ENSP00000265956:D805G|.	D|M	+|+	2|1	0|0	GAPVD1|GAPVD1	127134715|127134715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.339000|9.339000	0.96797|0.96797	2.182000|2.182000	0.69389|0.69389	0.459000|0.459000	0.35465|0.35465	GAT|ATG		0.448	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			14	58	0	0	0	1	0	14	58					G	128094894	A	G	128094894	3	3	301	1	0	0	0	0	1	0	0	0	6239	333	12	3	2460	3	GAPVD1	9	128094894	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12034697	128094894	13118537	25	30810											
MAN1B1	11253	broad.mit.edu	37	chr9	139996094	139996094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagctggagttccgggagctCtcccgtctcacaggggataa	13	12	2	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:139996094C>T	ENST00000371589.4	+	8	1297	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_ENST00000474902.1_Silent_p.L111L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	408					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)		TCCGGGAGCTCTCCCGTCTCA	0.597																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1222-1224)ctC>ctT		mannosidase, alpha, class 1B, member 1							36	35	36					9																	139996094		2203	4300	6503	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139996094C>T	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.1224C>T	9.37:g.139996094C>T						MAN1B1_ENST00000474902.1_Silent_p.L111L	p.L408L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	8	1297	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	408					Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1224C>T	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	4.042	0.005450	0.07866	.	.	ENSG00000177239	ENST00000535144	D	0.94232	-3.38	4.85	-0.939	0.10408	.	0.098846	0.42172	U	0.000759	D	0.92818	0.7716	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88125	0.2834	6	.	.	.	-16.1983	11.413	0.49935	0.137:0.3293:0.5337:0.0	.	.	.	.	F	382	ENSP00000441398:L382F	.	L	+	1	0	MAN1B1	139115915	0.717000	0.27966	0.638000	0.29380	0.357000	0.29423	-0.120000	0.10660	-0.357000	0.08175	-0.314000	0.08810	CTC		0.597	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		5	18	0	0	0	1	0	5	18					T	139996094	C	T	139996094	2	4	301	1	0	0	0	0	0	0	0	1	9212	900	32	2		2	MAN1B1	9	139996094	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	11901200	139996094	1217337	26	30811											
EBF3	253738	broad.mit.edu	37	chr10	131671806	131671806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgttgtgcacaaacatgtTgtctgacacggccagcacgt	10	10	1	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:131671806T>G	ENST00000355311.5	-	8	763	c.691A>C	c.(691-693)Aac>Cac	p.N231H	EBF3_ENST00000368648.3_Missense_Mutation_p.N231H			Q9H4W6	COE3_HUMAN	early B-cell factor 3	231					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)			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)		ACAAACATGTTGTCTGACACG	0.512																																						ENST00000368648.3																			0				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						c.(691-693)Aac>Cac		early B-cell factor 3							64	61	62					10																	131671806		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131671806T>G		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.691A>C	10.37:g.131671806T>G	ENSP00000347463:p.Asn231His					EBF3_ENST00000355311.5_Missense_Mutation_p.N231H	p.N231H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	8	763	-		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)	231					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.691A>C		.	.	.	.	.	.	.	.	.	.	T	24.2	4.500008	0.85176	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.56776	0.44;0.5	4.87	4.87	0.63330	.	0.091794	0.64402	D	0.000001	T	0.74756	0.3758	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80134	-0.1509	10	0.87932	D	0	-20.9951	14.8159	0.70034	0.0:0.0:0.0:1.0	.	231	Q9H4W6-2	.	H	231	ENSP00000347463:N231H;ENSP00000357637:N231H	ENSP00000347463:N231H	N	-	1	0	EBF3	131561796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.936000	0.87665	1.973000	0.57446	0.533000	0.62120	AAC		0.512	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		4	47	0	0	0	1	0	4	47					G	131671806	T	G	131671806	3	3	301	1	0	0	0	0	1	0	0	0	4882	1812	63	5	1000	5	EBF3	10	131671806	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		131671806	3862941	27	30812											
JAKMIP3	282973	broad.mit.edu	37	chr10	133967332	133967332	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatctggagagcgagaagGttggtggcaccttcaccgag	16	8	2	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:133967332G>T	ENST00000298622.4	+	17	2274		c.e17+1		JAKMIP3_ENST00000477275.1_Splice_Site	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							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)		GAGCGAGAAGGTTGGTGGCAC	0.592																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.e17+1		Janus kinase and microtubule interacting protein 3							137	137	137					10																	133967332		2203	4300	6503	SO:0001630	splice_region_variant	282973							g.chr10:133967332G>T	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.2136+1G>T	10.37:g.133967332G>T						JAKMIP3_ENST00000477275.1_Splice_Site		NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	17	2274	+		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)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37		CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547593	0.86022	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7977	0.88578	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133817322	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	9.251000	0.95483	2.185000	0.69588	0.585000	0.79938	.		0.592	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	12	178	1	0	2.80697e-09	1	3.07431e-09	12	178					T	133967332	G	T	133967332	5	4	301	1	0	0	0	0	0	0	1	0	7942	1275	44	4	2203	4	JAKMIP3	10	133967332	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	2295526	133967332	1567415	28	30813											
TH	7054	broad.mit.edu	37	chr11	2190969	2190969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggccttcccctccttctCctcaaaggccacagcctcca	5	21	2	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:2190969C>T	ENST00000381178.1	-	3	334	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_ENST00000352909.3_Missense_Mutation_p.E75K|TH_ENST00000381175.1_Missense_Mutation_p.E102K|TH_ENST00000333684.5_Missense_Mutation_p.E79K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	106					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)	CCCTCCTTCTCCTCAAAGGCC	0.692																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(316-318)Gag>Aag		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						41	43	42					11																	2190969		2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2190969C>T	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.316G>A	11.37:g.2190969C>T	ENSP00000370571:p.Glu106Lys					TH_ENST00000333684.5_Missense_Mutation_p.E79K|TH_ENST00000352909.3_Missense_Mutation_p.E75K|TH_ENST00000381175.1_Missense_Mutation_p.E102K	p.E106K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	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)	3	334	-		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)	106					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.316G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125047	0.77436	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	3.06	2.08	0.27032	.	0.130022	0.49916	D	0.000127	D	0.96140	0.8742	M	0.69823	2.125	0.47245	D	0.999363	P;P;P;B;B;B	0.41041	0.736;0.455;0.455;0.078;0.047;0.135	B;B;B;B;B;B	0.33196	0.159;0.102;0.102;0.099;0.03;0.067	D	0.93907	0.7193	10	0.72032	D	0.01	.	10.9263	0.47193	0.0:0.8073:0.1927:0.0	.	79;79;75;75;106;102	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	K	106;102;75;79	ENSP00000370571:E106K;ENSP00000370567:E102K;ENSP00000325951:E75K;ENSP00000328814:E79K	ENSP00000328814:E79K	E	-	1	0	TH	2147545	1.000000	0.71417	0.002000	0.10522	0.707000	0.40811	5.259000	0.65485	0.572000	0.29383	0.491000	0.48974	GAG		0.692	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		6	53	0	0	0	1	0	6	53					T	2190969	C	T	2190969	3	4	301	1	0	0	0	0	1	0	0	0	15835	864	30	2	1318	2	TH	11	2190969	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		2190969	132815547	29	30814											
MMP26	56547	broad.mit.edu	37	chr11	5012621	5012621	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccatgaagatggttggcccTttgatgggccaggtggtatc	14	9	0	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:5012621T>A	ENST00000380390.1	+	5	706	c.490T>A	c.(490-492)Ttt>Att	p.F164I	MMP26_ENST00000300762.1_Missense_Mutation_p.F164I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	164					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TGGTTGGCCCTTTGATGGGCC	0.463																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(490-492)Ttt>Att		matrix metallopeptidase 26							283	273	276					11																	5012621		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012621T>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.490T>A	11.37:g.5012621T>A	ENSP00000369753:p.Phe164Ile					MMP26_ENST00000300762.1_Missense_Mutation_p.F164I	p.F164I			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	706	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	164					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.490T>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192603	0.78902	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37915	1.17;1.17	3.93	3.93	0.45458	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.41097	U	0.000952	T	0.62258	0.2413	M	0.86420	2.815	0.37385	D	0.912214	D	0.89917	1.0	D	0.97110	1.0	T	0.72481	-0.4280	10	0.87932	D	0	.	10.7633	0.46277	0.0:0.0:0.0:1.0	.	164	Q9NRE1	MMP26_HUMAN	I	164	ENSP00000369753:F164I;ENSP00000300762:F164I	ENSP00000300762:F164I	F	+	1	0	MMP26	4969197	1.000000	0.71417	0.818000	0.32626	0.800000	0.45204	5.494000	0.66905	1.415000	0.47037	0.533000	0.62120	TTT		0.463	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		53	192	0	0	0	1	0	53	192					A	5012621	T	A	5012621	3	1	301	1	0	0	0	0	1	0	0	0	9663	1609	56	5	504	5	MMP26	11	5012621	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08	2821652	5012621	129993895	30	30815											
BEST1	7439	broad.mit.edu	37	chr11	61724345	61724345	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccggcagaacacaagcagTtggagaaactgagcctacca	10	12	0	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:61724345T>C	ENST00000378043.4	+	5	1154	c.511T>C	c.(511-513)Ttg>Ctg	p.L171L	BEST1_ENST00000449131.2_Silent_p.L111L|BEST1_ENST00000526988.1_Silent_p.L65L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Silent_p.L171L	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	171					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						ACACAAGCAGTTGGAGAAACT	0.577																																						ENST00000449131.2																			0				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						c.(331-333)Ttg>Ctg		bestrophin 1							194	192	193					11																	61724345		2202	4299	6501	SO:0001819	synonymous_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61724345T>C	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.511T>C	11.37:g.61724345T>C						BEST1_ENST00000435278.2_Silent_p.L171L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000378043.4_Silent_p.L171L|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Silent_p.L65L	p.L111L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			4	417	+			171					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	c.331T>C	CCDS31580.1																																																																																				0.577	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		29	264	0	0	0	1	0	29	264					C	61724345	T	C	61724345	2	2	301	1	0	0	0	0	0	0	0	1	1404	1722	60	3		3	BEST1	11	61724345	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	56711724	61724345	73282171	31	30816											
GALNT6	11226	broad.mit.edu	37	chr12	51751986	51751986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcaggtaccaggaaaaGttgtgacagtgcagttgttc	13	6	0	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:51751986G>T	ENST00000543196.2	-	8	1633	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	476					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGGAAAAGTTGTGACAGT	0.517																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1426-1428)aaC>aaA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							283	227	246					12																	51751986		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51751986G>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1428C>A	12.37:g.51751986G>T	ENSP00000444171:p.Asn476Lys					GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K	p.N476K			Q8NCL4	GALT6_HUMAN			8	1633	-			476					Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1428C>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	g	15.05	2.718766	0.48622	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.28895	1.59;1.59	4.0	4.0	0.46444	.	0.139109	0.64402	D	0.000005	T	0.29491	0.0735	M	0.62088	1.915	0.48975	D	0.999737	P	0.44260	0.83	B	0.39185	0.293	T	0.14671	-1.0464	10	0.66056	D	0.02	.	10.1076	0.42544	0.0988:0.0:0.9012:0.0	.	476	Q8NCL4	GALT6_HUMAN	K	476;476;457	ENSP00000444171:N476K;ENSP00000348668:N476K	ENSP00000348668:N476K	N	-	3	2	GALNT6	50038253	1.000000	0.71417	0.998000	0.56505	0.743000	0.42351	2.139000	0.42149	2.518000	0.84900	0.457000	0.33378	AAC		0.517	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		21	100	1	0	2.27731e-05	1	2.41745e-05	21	100					T	51751986	G	T	51751986	3	4	301	1	0	0	0	0	1	0	0	0	6217	1020	36	4	456	4	GALNT6	12	51751986	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		51751986	82099909	32	30817											
STAB2	55576	broad.mit.edu	37	chr12	104099417	104099417	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatatttcacagggtaatgAgaagaggagatgcatctata	10	4	2	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:104099417A>G	ENST00000388887.2	+	37	4112	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		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						CAGGGTAATGAGAAGAGGAGA	0.428																																						ENST00000388887.2																			0				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						c.(3907-3909)gAg>gGg		stabilin 2							127	109	115					12																	104099417		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104099417A>G	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.3908A>G	12.37:g.104099417A>G	ENSP00000373539:p.Glu1303Gly						p.E1303G	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			37	4112	+			1303						Missense_Mutation	SNP	ENST00000388887.2	37	c.3908A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685408	0.47991	.	.	ENSG00000136011	ENST00000388887	T	0.64438	-0.1	5.76	5.76	0.90799	Growth factor, receptor (1);	0.614265	0.17467	N	0.173216	T	0.50650	0.1628	N	0.25031	0.7	0.38744	D	0.953956	P	0.46706	0.883	B	0.44224	0.444	T	0.50338	-0.8840	10	0.24483	T	0.36	.	12.3036	0.54889	0.8734:0.0:0.0:0.1266	.	1303	Q8WWQ8	STAB2_HUMAN	G	1303	ENSP00000373539:E1303G	ENSP00000373539:E1303G	E	+	2	0	STAB2	102623547	1.000000	0.71417	0.821000	0.32701	0.019000	0.09904	3.161000	0.50747	2.209000	0.71365	0.533000	0.62120	GAG		0.428	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	30	0	0	0	1	0	7	30					G	104099417	A	G	104099417	3	3	301	1	0	0	0	0	1	0	0	0	15237	304	11	3	4054	3	STAB2	12	104099417	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	52347431	104099417	29752478	33	30818											
PCDH20	64881	broad.mit.edu	37	chr13	61987072	61987072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggactccagaacacttcctCcaatcttactgaaaagttta	6	11	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:61987072C>T	ENST00000409186.1	-	5	3265	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	387	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)|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)		AACACTTCCTCCAATCTTACT	0.398																																						ENST00000409186.1																			0				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						c.(1159-1161)gGa>gAa		protocadherin 20							100	97	98					13																	61987072		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987072C>T	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.1160G>A	13.37:g.61987072C>T	ENSP00000386653:p.Gly387Glu					PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E	p.G387E			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3265	-		Breast(118;0.195)|Prostate(109;0.229)	360			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1160G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439475	0.12104	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.48201	0.82;0.82	5.91	5.06	0.68205	.	0.097560	0.45867	D	0.000327	T	0.31199	0.0789	N	0.16743	0.435	0.34264	D	0.68021	B	0.30146	0.27	B	0.31812	0.136	T	0.45160	-0.9280	10	0.87932	D	0	.	8.0351	0.30488	0.0:0.7614:0.0:0.2386	.	387	A8K1K9	.	E	387;387;133	ENSP00000387250:G387E;ENSP00000386653:G387E	ENSP00000351500:G133E	G	-	2	0	PCDH20	60885073	0.994000	0.37717	0.940000	0.37924	0.178000	0.23041	2.649000	0.46656	2.813000	0.96785	0.655000	0.94253	GGA		0.398	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		8	100	0	0	0	1	0	8	100					T	61987072	C	T	61987072	3	4	301	1	0	0	0	0	1	0	0	0	11515	855	30	2	1699	2	PCDH20	13	61987072	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		61987072	53182806	34	30819											
MYCBP2	23077	broad.mit.edu	37	chr13	77862494	77862494	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatctggtatgattactgtAttctctaagttttcagactg	7	6	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:77862494A>T	ENST00000544440.2	-	3	299	c.282T>A	c.(280-282)aaT>aaA	p.N94K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.N132K					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)		TGATTACTGTATTCTCTAAGT	0.323																																						ENST00000407578.2																			0				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						c.(394-396)aaT>aaA		MYC binding protein 2, E3 ubiquitin protein ligase							88	89	89					13																	77862494		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77862494A>T	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.282T>A	13.37:g.77862494A>T	ENSP00000444596:p.Asn94Lys					MYCBP2_ENST00000544440.2_Missense_Mutation_p.N94K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K	p.N132K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	3	662	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	94						Missense_Mutation	SNP	ENST00000544440.2	37	c.396T>A		.	.	.	.	.	.	.	.	.	.	A	14.02	2.411716	0.42817	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27402	1.68;1.67;1.68	5.87	2.19	0.27852	.	0.126066	0.56097	D	0.000034	T	0.17534	0.0421	N	0.22421	0.69	0.27113	N	0.96233	B	0.20052	0.041	B	0.14023	0.01	T	0.21965	-1.0230	10	0.19590	T	0.45	.	9.3528	0.38149	0.7407:0.0:0.2593:0.0	.	94	O75592	MYCB2_HUMAN	K	94;132;94	ENSP00000349892:N94K;ENSP00000384288:N132K;ENSP00000444596:N94K	ENSP00000349892:N94K	N	-	3	2	MYCBP2	76760495	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	2.378000	0.44309	0.153000	0.19213	0.482000	0.46254	AAT		0.323	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		6	39	0	0	0	1	0	6	39					T	77862494	A	T	77862494	3	4	301	1	0	0	0	0	1	0	0	0	10018	446	16	5	13964	5	MYCBP2	13	77862494	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	15875422	77862494	37307384	35	30820											
AGBL1	123624	broad.mit.edu	37	chr15	86838484	86838484	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctttatttctgctccAgactcatcttgacatcctgg	7	13	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:86838484A>C	ENST00000441037.2	+	16	2177		c.e16-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000421325.2_Splice_Site|AGBL1-AS1_ENST00000566878.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTCTGCTCCAGACTCATCTT	0.398																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.e16-1		ATP/GTP binding protein-like 1							46	46	46					15																	86838484		1877	4104	5981	SO:0001630	splice_region_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838484A>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2083-1A>C	15.37:g.86838484A>C						AGBL1_ENST00000421325.2_Splice_Site|AGBL1_ENST00000389298.3_Splice_Site		NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2177	+								A1A4X5|A6NJH6|C9JHL5	Splice_Site	SNP	ENST00000441037.2	37		CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842447	0.32513	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5211	0.61568	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGBL1	84639488	1.000000	0.71417	0.985000	0.45067	0.180000	0.23129	7.213000	0.77950	2.133000	0.65898	0.528000	0.53228	.		0.398	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Intron	5	28	0	0	0	1	0	5	28					C	86838484	A	C	86838484	5	2	301	1	0	0	0	0	0	0	1	0	375	202	7	5	2139	5	AGBL1	15	86838484	Splice_Site	SNP	A	TCGA-HT-8106-01A-11D-2395-08		86838484	15692908	36	30821											
CIITA	4261	broad.mit.edu	37	chr16	11002910	11002910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgagcgacacggtggcGctgtgggagtccctgcagca	16	12	0	1	rs148091568	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:11002910G>A	ENST00000324288.8	+	12	2815	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	CIITA_ENST00000381835.5_Silent_p.A310A|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	894					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								G|||	5	0.000998403	0.0008	0.0014	5008	,	,		19642	0.003		0.0	False		,,,				2504	0.0					ENST00000324288.8				Dom	yes		16	16p13	4261	T	"class II, major histocompatibility complex, transactivator"			L	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"		"PMBL, Hodgkin Lymphona, "		1	Substitution - coding silent(1)	p.A894A(1)	endometrium(1)	central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2680-2682)gcG>gcA		class II, major histocompatibility complex, transactivator		G		6,4388	11.4+/-27.6	0,6,2191	60	45	50		2682	3.9	0.8	16	dbSNP_134	50	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CIITA	NM_000246.3		0,8,6489	AA,AG,GG		0.0233,0.1365,0.0616		894/1131	11002910	8,12986	2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11002910G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2682G>A	16.37:g.11002910G>A						CIITA_ENST00000381835.5_Silent_p.A310A|CIITA_ENST00000537380.1_Intron	p.A894A	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			12	2815	+			894					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.2682G>A	CCDS10544.1																																																																																				0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		7	56	0	0	0	1	0	7	56					A	11002910	G	A	11002910	2	1	301	1	0	0	0	0	0	0	0	1	3428	1074	38	1		1	CIITA	16	11002910	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		11002910	79351843	37	30822											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)	ENST00000420246.2	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120	106	110					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	64	0	0	0	1	0	27	64					A	7577022	G	A	7577022	4	1	301	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		7577022	73618188	38	30823											
MYOCD	93649	broad.mit.edu	37	chr17	12655919	12655919	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattaccagtcttcctcttcTaccagtgccctgtccaacgg	6	15	3	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:12655919T>A	ENST00000343344.4	+	10	1314	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_ENST00000425538.1_Silent_p.S438S|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.S342S			Q8IZQ8	MYCD_HUMAN	myocardin	438	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTCTTCTACCAGTGCCC	0.582																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1312-1314)tcT>tcA		myocardin							138	121	127					17																	12655919		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655919T>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1314T>A	17.37:g.12655919T>A						MYOCD_ENST00000343344.4_Silent_p.S438S|MYOCD_ENST00000395988.1_Silent_p.S342S	p.S438S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1514	+			438			Ser-rich.		Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1314T>A	CCDS11163.1																																																																																				0.582	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		9	126	0	0	0	1	0	9	126					A	12655919	T	A	12655919	2	1	301	1	0	0	0	0	0	0	0	1	10087	1509	53	5		5	MYOCD	17	12655919	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	5078897	12655919	68539291	39	30824											
MAPK7	5598	broad.mit.edu	37	chr17	19285244	19285244	+	Frame_Shift_Del	DEL	G	G	-													ggagcgggagcgaaaggaacGgggggctggggcctctgggg							TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:19285244delG	ENST00000308406.5	+	5	2014	c.1628delG	c.(1627-1629)cggfs	p.R543fs	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|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)|regulation of angiogenesis (GO:0045765)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					cgaaaggaacggggggctggg	0.677																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1627-1629)cgfs		mitogen-activated protein kinase 7							11	23	19					17																	19285244		2033	4019	6052	SO:0001589	frameshift_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19285244delG	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1628delG	17.37:g.19285244delG	ENSP00000311005:p.Arg543fs					MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs	p.R543fs	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			5	2014	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		543			Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Frame_Shift_Del	DEL	ENST00000308406.5	37	c.1628delG	CCDS11206.1																																																																																				0.677	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		2	4						2	4	---	---	---	---	-	19285244	G	-	19285244	7	5	301	1	0	1	0	1	0	0	0	0	9282	1116	39	0	1642	0	MAPK7	17	19285244	Frame_Shift_Del	DEL	G	TCGA-HT-8106-01A-11D-2395-08	6629325	19285244	61909966	40	30825											
DDX52	11056	broad.mit.edu	37	chr17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcttcaagagctactttcttCttgctgttctgaccagtgac	7	11	5	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:35974371C>G	ENST00000349699.2	-	15	1813	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_ENST00000394367.3_Missense_Mutation_p.K482N|RP11-697E22.1_ENST00000591689.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	590	Lys-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(1768-1770)aaG>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							93	86	88					17																	35974371		2201	4300	6501	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35974371C>G	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1770G>C	17.37:g.35974371C>G	ENSP00000268854:p.Lys590Asn					DDX52_ENST00000394367.3_Missense_Mutation_p.K482N	p.K590N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			15	1813	-		Breast(25;0.00637)|Ovarian(249;0.15)	590			Lys-rich.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.1770G>C	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348810	0.41599	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.15603	2.41;2.43	5.6	2.4	0.29515	.	1.819250	0.02473	N	0.087707	T	0.20659	0.0497	L	0.55834	1.745	0.36411	D	0.863719	B	0.13594	0.008	B	0.09377	0.004	T	0.10451	-1.0629	10	0.41790	T	0.15	.	7.9099	0.29785	0.0:0.6085:0.3079:0.0836	.	590	Q9Y2R4	DDX52_HUMAN	N	590;482	ENSP00000268854:K590N;ENSP00000377893:K482N	ENSP00000268854:K590N	K	-	3	2	DDX52	33048484	1.000000	0.71417	0.955000	0.39395	0.900000	0.52787	1.318000	0.33643	0.357000	0.24183	0.655000	0.94253	AAG		0.323	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		5	26	0	0	0	1	0	5	26					G	35974371	C	G	35974371	3	3	301	1	0	0	0	0	1	0	0	0	4370	912	32	4	33	4	DDX52	17	35974371	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	16689127	35974371	45220839	41	30826											
GAST	2520	broad.mit.edu	37	chr17	39871798	39871798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcacccttaggtacagGggccaacagggacctggagc	14	11	0	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:39871798G>A	ENST00000329402.3	+	2	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTAGGTACAGGGGCCAACAGG	0.627																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(109-111)gGg>gAg		gastrin							85	87	86					17																	39871798		2203	4300	6503	SO:0001583	missense	2520					extracellular region	hormone activity	g.chr17:39871798G>A		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"Endogenous ligands"	4164	protein-coding gene	gene with protein product	"preprogastrin"	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.110G>A	17.37:g.39871798G>A	ENSP00000331358:p.Gly37Glu					JUP_ENST00000540235.1_Intron	p.G37E	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	177	+		Breast(137;0.000307)	37					P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	37	c.110G>A	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616532	0.14129	.	.	ENSG00000184502	ENST00000329402	T	0.26223	1.75	4.56	-8.38	0.00973	Gastrin/cholecystokinin peptide hormone (1);	1.382690	0.04550	N	0.389646	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.27262	-1.0079	10	0.13108	T	0.6	-0.7376	2.181	0.03874	0.1898:0.261:0.3953:0.1539	.	37	P01350	GAST_HUMAN	E	37	ENSP00000331358:G37E	ENSP00000331358:G37E	G	+	2	0	GAST	37125324	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.057000	0.03486	-1.300000	0.02341	-0.262000	0.10625	GGG		0.627	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			8	147	0	0	0	1	0	8	147					A	39871798	G	A	39871798	3	1	301	1	0	0	0	0	1	0	0	0	6252	1232	43	2	112	2	GAST	17	39871798	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3897427	39871798	41323412	42	30827											
GFAP	2670	broad.mit.edu	37	chr17	42989133	42989133	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcggagcagctccgcGttgcgggcagcagcgtctgt	17	13	1	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:42989133G>C	ENST00000253408.5	-	5	878	c.813C>G	c.(811-813)aaC>aaG	p.N271K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K|GFAP_ENST00000591327.1_5'Flank	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	271	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCAGCTCCGCGTTGCGGGCAG	0.662																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(811-813)aaC>aaG		glial fibrillary acidic protein							47	46	46					17																	42989133		2203	4299	6502	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42989133G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.813C>G	17.37:g.42989133G>C	ENSP00000253408:p.Asn271Lys					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K	p.N271K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			5	878	-		Prostate(33;0.0959)	271			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.813C>G	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449126	0.63178	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.89681	-2.55;-2.55	4.42	1.37	0.22104	Filament (1);	0.053490	0.64402	D	0.000001	D	0.93354	0.7881	M	0.85099	2.735	0.41720	D	0.989503	D;D	0.76494	0.998;0.999	D;D	0.71870	0.927;0.975	D	0.92408	0.5935	10	0.72032	D	0.01	.	9.7489	0.40464	0.2284:0.0:0.7716:0.0	.	271;271	E9PAX3;P14136	.;GFAP_HUMAN	K	271;246;271	ENSP00000253408:N271K;ENSP00000403962:N271K	ENSP00000253408:N271K	N	-	3	2	GFAP	40344659	0.453000	0.25721	0.094000	0.20943	0.004000	0.04260	0.726000	0.25984	0.382000	0.24878	0.655000	0.94253	AAC		0.662	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	106	0	0	0	1	0	5	106					C	42989133	G	C	42989133	3	2	301	1	0	0	0	0	1	0	0	0	6337	1136	40	4	634	4	GFAP	17	42989133	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3117335	42989133	38206077	43	30828											
ASXL3	80816	broad.mit.edu	37	chr18	31323665	31323665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atataagcatgttaaaaaccAtccagggaactgacactcca	6	10	0	1	rs548915343		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr18:31323665A>G	ENST00000269197.5	+	12	3853	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1285	Ser-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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAAAACCATCCAGGGAAC	0.408																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3853-3855)Atc>Gtc		additional sex combs like 3 (Drosophila)							84	81	82					18																	31323665		1905	4119	6024	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323665A>G	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.3853A>G	18.37:g.31323665A>G	ENSP00000269197:p.Ile1285Val						p.I1285V	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3853	+			1285			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3853A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041698	0.35989	.	.	ENSG00000141431	ENST00000269197	T	0.17213	2.29	5.92	4.76	0.60689	.	.	.	.	.	T	0.14098	0.0341	L	0.29908	0.895	0.32105	N	0.590129	B	0.06786	0.001	B	0.06405	0.002	T	0.05354	-1.0890	9	0.44086	T	0.13	.	12.0109	0.53286	0.9326:0.0:0.0674:0.0	.	1285	Q9C0F0	ASXL3_HUMAN	V	1285	ENSP00000269197:I1285V	ENSP00000269197:I1285V	I	+	1	0	ASXL3	29577663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.593000	0.46180	1.062000	0.40625	0.533000	0.62120	ATC		0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			17	70	0	0	0	1	0	17	70					G	31323665	A	G	31323665	3	3	301	1	0	0	0	0	1	0	0	0	1068	217	8	3	3899	3	ASXL3	18	31323665	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08		31323665	46753583	44	30829											
MUC16	94025	broad.mit.edu	37	chr19	9069935	9069935	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtttctgtggagatgtaGggtgacattttggaatgatc	14	3	1	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:9069935G>T	ENST00000397910.4	-	3	17714	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5839	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						TGGAGATGTAGGGTGACATTT	0.473																																						ENST00000397910.4																			0				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						c.(17509-17511)ccC>ccA		mucin 16, cell surface associated							212	199	203					19																	9069935		1953	4134	6087	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069935G>T	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.17511C>A	19.37:g.9069935G>T							p.P5837P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17714	-			5839			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17511C>A	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	119	1	0	1.58986e-06	1	1.71407e-06	11	119					T	9069935	G	T	9069935	2	4	301	1	0	0	0	0	0	0	0	1	9973	987	35	4		4	MUC16	19	9069935	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		9069935	50059048	45	30830											
FFAR2	2867	broad.mit.edu	37	chr19	35941277	35941277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggcggcgccgagccGtggggctggctgtggtgacg	20	12	0	2	rs61746520	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:35941277G>A	ENST00000599180.2	+	2	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	221					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|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 interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCGAGCCGTGGGGCTGGC	0.602													G|||	16	0.00319489	0.0121	0.0	5008	,	,		16344	0.0		0.0	False		,,,				2504	0.0				GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(661-663)Gtg>Atg		free fatty acid receptor 2		G	MET/VAL	63,4343	56.8+/-93.2	1,61,2141	63	67	66		661	2.2	0.2	19	dbSNP_129	66	0,8600		0,0,4300	yes	missense	FFAR2	NM_005306.2	21	1,61,6441	AA,AG,GG		0.0,1.4299,0.4844	benign	221/331	35941277	63,12943	2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941277G>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.661G>A	19.37:g.35941277G>A	ENSP00000473159:p.Val221Met					FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron	p.V221M			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	741	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		221					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.661G>A	CCDS12461.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	1.680	-0.506789	0.04231	0.014299	0.0	ENSG00000126262	ENST00000246549	T	0.73469	-0.75	5.49	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.159452	0.47852	N	0.000207	T	0.46308	0.1386	L	0.33710	1.025	0.31513	N	0.663294	P	0.44006	0.824	B	0.31442	0.13	T	0.56739	-0.7929	10	0.41790	T	0.15	-20.6123	8.2567	0.31760	0.3005:0.0:0.6995:0.0	rs61746520	221	O15552	FFAR2_HUMAN	M	221	ENSP00000246549:V221M	ENSP00000246549:V221M	V	+	1	0	FFAR2	40633117	0.992000	0.36948	0.201000	0.23476	0.043000	0.13939	2.473000	0.45145	0.403000	0.25479	-0.219000	0.12488	GTG		0.602	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		9	120	0	0	0	1	0	9	120					A	35941277	G	A	35941277	3	1	301	1	0	0	0	0	1	0	0	0	5828	1145	40	1	663	1	FFAR2	19	35941277	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	26871342	35941277	23187706	46	30831											
BCAM	4059	broad.mit.edu	37	chr19	45322041	45322041	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccatgctgtcgctcagttCtatcaccttcgattccaatg	6	15	3	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:45322041C>T	ENST00000270233.6	+	10	1260	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_ENST00000589651.1_Missense_Mutation_p.S413F	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	413	Ig-like C2-type 2.				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)	p.S413F(1)		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)				TCGCTCAGTTCTATCACCTTC	0.627																																						ENST00000391955.1																			1	Substitution - Missense(1)	p.S413F(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1237-1239)tCt>tTt		basal cell adhesion molecule (Lutheran blood group)							131	113	119					19																	45322041		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322041C>T	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.1238C>T	19.37:g.45322041C>T	ENSP00000270233:p.Ser413Phe					BCAM_ENST00000270233.6_Missense_Mutation_p.S413F	p.S413F			P50895	BCAM_HUMAN			10	1282	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	413			Ig-like C2-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1238C>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	17.84	3.487291	0.63962	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.11277	2.79;2.79	4.6	-2.5	0.06384	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15089	0.0364	M	0.85373	2.75	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.36986	-0.9725	9	0.72032	D	0.01	0.346	7.1033	0.25351	0.5514:0.3606:0.0:0.088	.	413	P50895	BCAM_HUMAN	F	413	ENSP00000270233:S413F;ENSP00000375817:S413F	ENSP00000270233:S413F	S	+	2	0	BCAM	50013881	0.000000	0.05858	0.000000	0.03702	0.347000	0.29111	0.144000	0.16135	-0.122000	0.11766	0.491000	0.48974	TCT		0.627	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		20	138	0	0	0	1	0	20	138					T	45322041	C	T	45322041	3	4	301	1	0	0	0	0	1	0	0	0	1344	913	32	2	1276	2	BCAM	19	45322041	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	9380764	45322041	13806942	47	30832											
RBPJL	11317	broad.mit.edu	37	chr20	43945326	43945326	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggtgctccacccccagGagcccgcggtccctggtgtg	13	18	0	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:43945326G>A	ENST00000343694.3	+	12	1353	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000372741.3_Splice_Site_p.E431K	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	427	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCACCCCCAGGAGCCCGCGGT	0.726																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e12-1		recombination signal binding protein for immunoglobulin kappa J region-like							19	22	21					20																	43945326		2185	4248	6433	SO:0001630	splice_region_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43945326G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1281-1G>A	20.37:g.43945326G>A						RBPJL_ENST00000372741.3_Splice_Site_p.E431_splice|RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000464504.1_3'UTR	p.R427_splice	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			12	1353	+		Myeloproliferative disorder(115;0.0122)	427			IPT/TIG.		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Splice_Site	SNP	ENST00000343694.3	37	c.1280_splice	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397372	0.62177	.	.	ENSG00000124232	ENST00000372741	T	0.57436	0.4	4.94	4.94	0.65067	.	.	.	.	.	T	0.54870	0.1885	.	.	.	0.80722	D	1	P	0.52842	0.956	P	0.47528	0.549	T	0.55302	-0.8162	7	.	.	.	.	15.7304	0.77800	0.0:0.0:1.0:0.0	.	431	Q5QPV1	.	K	431	ENSP00000361826:E431K	.	E	+	1	0	RBPJL	43378740	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.325000	0.65869	2.442000	0.82660	0.549000	0.68633	GAG		0.726	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	Silent	3	14	0	0	0	1	0	3	14					A	43945326	G	A	43945326	5	1	301	1	0	0	0	0	0	0	1	0	13162	1188	41	2	1327	2	RBPJL	20	43945326	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08		43945326	19080194	48	30833											
C20orf151	140893	broad.mit.edu	37	chr20	60990678	60990678	+	Frame_Shift_Del	DEL	T	T	-													cagggtggcccctggggagaTtttggccactggagatgtcc							TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:60990678delT	ENST00000252998.1	-	8	739	c.583delA	c.(583-585)atcfs	p.I195fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	195						extracellular space (GO:0005615)											CCTGGGGAGATTTTGGCCACT	0.677																																						ENST00000252998.1																			0											c.(583-585)tcfs		RBBP8 N-terminal like							60	68	65					20																	60990678		2203	4299	6502	SO:0001589	frameshift_variant	140893							g.chr20:60990678delT	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.583delA	20.37:g.60990678delT	ENSP00000252998:p.Ile195fs						p.I195fs	NM_080833.2	NP_543023.2					8	739	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Del	DEL	ENST00000252998.1	37	c.583delA	CCDS13498.1																																																																																				0.677	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		7	219						7	219	---	---	---	---	-	60990678	T	-	60990678	7	5	301	1	0	1	0	1	0	0	0	0	2091	1493	52	0	1439	0	C20orf151	20	60990678	Frame_Shift_Del	DEL	T	TCGA-HT-8106-01A-11D-2395-08	17045352	60990678	2034842	49	30834											
SMC1B	27127	broad.mit.edu	37	chr22	45779410	45779410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaactctttctcatcccaGcatctagccttgtattttaa	3	11	3	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:45779410G>A	ENST00000357450.4	-	12	1994	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_ENST00000404354.3_Silent_p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	665	Flexible hinge.				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)		TCTCATCCCAGCATCTAGCCT	0.343																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1993-1995)tgC>tgT		structural maintenance of chromosomes 1B							175	158	163					22																	45779410		1823	4080	5903	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45779410G>A	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.1995C>T	22.37:g.45779410G>A						SMC1B_ENST00000404354.3_Silent_p.C665C	p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	1994	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	665			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.1995C>T	CCDS43027.1																																																																																				0.343	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		8	41	0	0	0	1	0	8	41					A	45779410	G	A	45779410	2	1	301	1	0	0	0	0	0	0	0	1	14782	963	34	2		2	SMC1B	22	45779410	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		45779410	5525156	50	30835											
SPEG	10290	broad.mit.edu	37	chr2	220344809	220344809	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatggcacacctgagttTgtagcacccgagattgtcaa	10	10	1	2	rs377721845		TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr2:220344809T>C	ENST00000312358.7	+	25	5421	c.5289T>C	c.(5287-5289)ttT>ttC	p.F1763F	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1763	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CACCTGAGTTTGTAGCACCCG	0.612																																						ENST00000312358.7																			0				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						c.(5287-5289)ttT>ttC		SPEG complex locus		T		2,4244		0,2,2121	84	89	87		5289	-4.3	0.9	2		87	7,8479		0,7,4236	no	coding-synonymous	SPEG	NM_005876.4		0,9,6357	CC,CT,TT		0.0825,0.0471,0.0707		1763/3268	220344809	9,12723	2123	4243	6366	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344809T>C	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.5289T>C	2.37:g.220344809T>C						SPEG_ENST00000485813.1_3'UTR	p.F1763F	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	25	5421	+		Renal(207;0.0183)	1763			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5289T>C	CCDS42824.1																																																																																				0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	100	0	0	0	1	0	4	100					C	220344809	T	C	220344809	2	2	302	1	0	0	0	0	0	0	0	1	15035	1809	63	3		3	SPEG	2	220344809	Silent	SNP	T	TCGA-HT-8107-01A-13D-2395-08		220344809	22854564	1	30836											
GRM1	2911	broad.mit.edu	37	chr6	146480693	146480693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactcctgagcgccatgCggcgccttggcgtcgtgggc	17	13	0	1			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr6:146480693C>T	ENST00000282753.1	+	2	1145	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	GRM1_ENST00000355289.4_Missense_Mutation_p.R304W|GRM1_ENST00000392299.2_Missense_Mutation_p.R304W|GRM1_ENST00000361719.2_Missense_Mutation_p.R304W|GRM1_ENST00000492807.2_Missense_Mutation_p.R304W|GRM1_ENST00000507907.1_Missense_Mutation_p.R304W			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	304					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAGCGCCATGCGGCGCCTTGG	0.557																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(910-912)Cgg>Tgg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						68	65	66					6																	146480693		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480693C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.910C>T	6.37:g.146480693C>T	ENSP00000282753:p.Arg304Trp					GRM1_ENST00000282753.1_Missense_Mutation_p.R304W|GRM1_ENST00000361719.2_Missense_Mutation_p.R304W|GRM1_ENST00000355289.4_Missense_Mutation_p.R304W|GRM1_ENST00000492807.2_Missense_Mutation_p.R304W|GRM1_ENST00000507907.1_Missense_Mutation_p.R304W	p.R304W			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1380	+		Ovarian(120;0.0387)	304					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.910C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138294	0.77775	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.32	0.782	0.18567	Extracellular ligand-binding receptor (1);	0.052126	0.64402	D	0.000001	D	0.88347	0.6412	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.75020	0.975;0.962;0.985;0.975	D	0.90186	0.4246	10	0.87932	D	0	.	15.4188	0.74995	0.6399:0.3601:0.0:0.0	.	304;304;299;304	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	W	304	ENSP00000354896:R304W;ENSP00000376119:R304W;ENSP00000424095:R304W;ENSP00000282753:R304W;ENSP00000347437:R304W;ENSP00000425599:R304W	ENSP00000282753:R304W	R	+	1	2	GRM1	146522386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.127000	0.31357	0.191000	0.20236	0.655000	0.94253	CGG		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	82	0	0	0	1	0	4	82					T	146480693	C	T	146480693	3	4	302	1	0	0	0	0	1	0	0	0	6796	759	27	1	916	1	GRM1	6	146480693	Missense_Mutation	SNP	C	TCGA-HT-8107-01A-13D-2395-08		146480693	24634374	2	30837											
AEBP1	165	broad.mit.edu	37	chr7	44153474	44153474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgcctgcggcttcggGcacagatgcggctgcggcgc	15	15	0	1	rs146344486		TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:44153474G>A	ENST00000223357.3	+	21	3396	c.3091G>A	c.(3091-3093)Gca>Aca	p.A1031T	AEBP1_ENST00000450684.2_Missense_Mutation_p.A606T|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1031	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {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						GCGGCTTCGGGCACAGATGCG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10946	0.0		0.001	False		,,,				2504	0.0					ENST00000223357.3																			0				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						c.(3091-3093)Gca>Aca		AE binding protein 1		G	THR/ALA	4,4402	6.2+/-15.9	0,4,2199	53	59	57		3091	5.3	0.9	7	dbSNP_134	57	32,8566	20.4+/-63.3	0,32,4267	yes	missense	AEBP1	NM_001129.3	58	0,36,6466	AA,AG,GG		0.3722,0.0908,0.2768	benign	1031/1159	44153474	36,12968	2203	4299	6502	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153474G>A	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.3091G>A	7.37:g.44153474G>A	ENSP00000223357:p.Ala1031Thr					AEBP1_ENST00000450684.2_Missense_Mutation_p.A606T	p.A1031T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3396	+			1031			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3091G>A	CCDS5476.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.4	3.988305	0.74589	9.08E-4	0.003722	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.94897	-3.55;-2.97	5.33	5.33	0.75918	.	0.379861	0.26665	N	0.023140	D	0.87869	0.6286	N	0.08118	0	0.30758	N	0.74439	B;B	0.26547	0.152;0.094	B;B	0.24155	0.051;0.023	D	0.86295	0.1676	10	0.72032	D	0.01	-16.8138	15.0823	0.72125	0.0:0.1424:0.8576:0.0	.	606;1031	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	T	1031;606	ENSP00000223357:A1031T;ENSP00000398878:A606T	ENSP00000223357:A1031T	A	+	1	0	AEBP1	44119999	0.239000	0.23836	0.937000	0.37676	0.952000	0.60782	0.834000	0.27518	2.499000	0.84300	0.557000	0.71058	GCA		0.692	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		4	90	0	0	0	1	0	4	90					A	44153474	G	A	44153474	3	1	302	1	0	0	0	0	1	0	0	0	349	1203	42	2	3173	2	AEBP1	7	44153474	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		44153474	114985189	3	30838											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	9	7	2	2			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.R108K(6)		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)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		6	Substitution - Missense(6)	p.R108K(6)	central_nervous_system(6)	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						c.(322-324)aGa>aAa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	119	119					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		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.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K	p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		3	500	+	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)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	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;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		23	127	0	0	0	1	0	23	127					A	55211080	G	A	55211080	3	1	302	1	0	0	0	0	1	0	0	0	4967	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08	11057606	55211080	103927583	4	30839											
KDM4D	55693	broad.mit.edu	37	chr11	94731685	94731685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccttcccactgggcccgGcattccccttggcctatggc	9	19	0	0			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr11:94731685G>A	ENST00000335080.5	+	3	1981	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	KDM4D_ENST00000536741.1_Silent_p.R383R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	383					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTGGGCCCGGCATTCCCCTT	0.632																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1147-1149)cgG>cgA		lysine (K)-specific demethylase 4D							53	44	47					11																	94731685		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731685G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1149G>A	11.37:g.94731685G>A						KDM4D_ENST00000536741.1_Silent_p.R383R	p.R383R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN			3	1981	+			383					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.1149G>A	CCDS8302.1																																																																																				0.632	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		3	49	0	0	0	1	0	3	49					A	94731685	G	A	94731685	2	1	302	1	0	0	0	0	0	0	0	1	8131	1190	42	2		2	KDM4D	11	94731685	Silent	SNP	G	TCGA-HT-8107-01A-13D-2395-08		94731685	40274831	5	30840											
AHNAK2	113146	broad.mit.edu	37	chr14	105420269	105420269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgtggggtactaaggcGcctttctctttctggctctt	11	11	3	0			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr14:105420269G>A	ENST00000333244.5	-	7	1638	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	507						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)			GTACTAAGGCGCCTTTCTCTT	0.532																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1519-1521)Cgc>Tgc		AHNAK nucleoprotein 2							66	70	69					14																	105420269		1940	4129	6069	SO:0001583	missense	113146					nucleus		g.chr14:105420269G>A	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.1519C>T	14.37:g.105420269G>A	ENSP00000353114:p.Arg507Cys						p.R507C	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1638	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	507					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1519C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.90	2.077908	0.36662	.	.	ENSG00000185567	ENST00000333244	T	0.02837	4.14	3.21	-3.73	0.04398	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	P	0.51933	0.949	B	0.41571	0.36	T	0.40021	-0.9585	9	0.56958	D	0.05	.	1.4551	0.02383	0.1401:0.329:0.3:0.2309	.	507	Q8IVF2	AHNK2_HUMAN	C	507	ENSP00000353114:R507C	ENSP00000353114:R507C	R	-	1	0	AHNAK2	104491314	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.187000	0.00278	-0.529000	0.06358	-0.397000	0.06425	CGC		0.532	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	117	0	0	0	1	0	5	117					A	105420269	G	A	105420269	3	1	302	1	0	0	0	0	1	0	0	0	415	1087	38	1	15872	1	AHNAK2	14	105420269	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		105420269	1929271	6	30841											
TBXA2R	6915	broad.mit.edu	37	chr19	3600465	3600465	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggagcgcgtgtgcgaAcccccctgccgcgcgcccgc	15	17	0	0			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr19:3600465A>C	ENST00000375190.4	-	2	561	c.168T>G	c.(166-168)ggT>ggG	p.G56G	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Silent_p.G56G|TBXA2R_ENST00000589966.1_Silent_p.G56G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	56					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GCGTGTGCGAACCCCCCTGCC	0.706																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(166-168)ggT>ggG		thromboxane A2 receptor	Ridogrel(DB01207)						28	43	38					19																	3600465		2153	4216	6369	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600465A>C		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.168T>G	19.37:g.3600465A>C						TBXA2R_ENST00000411851.3_Silent_p.G56G|TBXA2R_ENST00000589966.1_Silent_p.G56G	p.G56G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	561	-		Hepatocellular(1079;0.137)	56					O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	ENST00000375190.4	37	c.168T>G	CCDS42467.1																																																																																				0.706	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			5	26	0	0	0	1	0	5	26					C	3600465	A	C	3600465	2	2	302	1	0	0	0	0	0	0	0	1	15660	30	2	5		5	TBXA2R	19	3600465	Silent	SNP	A	TCGA-HT-8107-01A-13D-2395-08		3600465	55528518	7	30842											
IL1R2	7850	broad.mit.edu	37	chr2	102641101	102641101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatagagagcgcctacccGggaggccgcgtgaccgaggg	16	13	0	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:102641101G>A	ENST00000332549.3	+	7	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000441002.1_Silent_p.P286P|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	286	Ig-like C2-type 3.				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						GCGCCTACCCGGGAGGCCGCG	0.572																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(856-858)ccG>ccA		interleukin 1 receptor, type II	Anakinra(DB00026)						54	51	52					2																	102641101		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102641101G>A	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.858G>A	2.37:g.102641101G>A						IL1R2_ENST00000441002.1_Silent_p.P286P|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.P286P	p.P286P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			7	1087	+			286			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.858G>A	CCDS2054.1																																																																																				0.572	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		4	75	0	0	0	1	0	4	75					A	102641101	G	A	102641101	2	1	303	1	0	0	0	0	0	0	0	1	7659	1103	39	1		1	IL1R2	2	102641101	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		102641101	140558272	1	30843											
IL1F8	27177	broad.mit.edu	37	chr2	113788702	113788702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatctgtcgagaatcaCgaatagcataggatttgggt	10	8	2	1	rs199927949		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:113788702C>T	ENST00000259213.4	-	3	151	c.44G>A	c.(43-45)cGt>cAt	p.R15H	IL36B_ENST00000327407.2_Missense_Mutation_p.R15H	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	15					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						TCGAGAATCACGAATAGCATA	0.478																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(43-45)cGt>cAt		interleukin 36, beta							110	99	102					2																	113788702		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113788702C>T	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.44G>A	2.37:g.113788702C>T	ENSP00000259213:p.Arg15His					IL36B_ENST00000327407.2_Missense_Mutation_p.R15H	p.R15H	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			3	151	-			15					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.44G>A	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191760	0.06299	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.18174	2.23;2.23	3.21	-0.271	0.12922	.	0.697553	0.13089	N	0.414654	T	0.06962	0.0177	N	0.21194	0.64	0.09310	N	1	B;B	0.32051	0.009;0.354	B;B	0.26770	0.012;0.073	T	0.32955	-0.9887	10	0.11794	T	0.64	.	2.1127	0.03707	0.2502:0.4051:0.0:0.3447	.	15;15	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	H	15	ENSP00000259213:R15H;ENSP00000328420:R15H	ENSP00000259213:R15H	R	-	2	0	IL36B	113505173	0.000000	0.05858	0.066000	0.19879	0.076000	0.17211	-0.726000	0.04936	0.156000	0.19299	0.506000	0.49869	CGT		0.478	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		17	40	0	0	0	1	0	17	40					T	113788702	C	T	113788702	3	4	303	1	0	0	0	0	1	0	0	0	7656	536	19	1	683	1	IL1F8	2	113788702	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	11147601	113788702	129410671	2	30844											
TTN	7273	broad.mit.edu	37	chr2	179593263	179593263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcacagctactgcttcCgaagtcattttccaccttga	7	13	2	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	ENST00000591111.1	-	64	18663	c.18439G>A	c.(18439-18441)Gga>Aga	p.G6147R	TTN_ENST00000342992.6_Missense_Mutation_p.G5220R|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G6464R			Q8WZ42	TITIN_HUMAN	titin	12931	Ig-like 42.				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)			CTACTGCTTCCGAAGTCATTT	0.398																																						ENST00000589042.1																			0				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						c.(19390-19392)Gga>Aga		titin							63	56	59					2																	179593263		1898	4132	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593263C>T	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.18439G>A	2.37:g.179593263C>T	ENSP00000465570:p.Gly6147Arg					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5220R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6147R|TTN-AS1_ENST00000585451.1_RNA	p.G6464R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	19614	-			6147			Ig-like 46.		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	ENST00000591111.1	37	c.19390G>A		.	.	.	.	.	.	.	.	.	.	C	11.94	1.789115	0.31685	.	.	ENSG00000155657	ENST00000342992	T	0.74737	-0.87	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91885	0.7431	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.94220	0.7466	9	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	6147	Q8WZ42	TITIN_HUMAN	R	5220	ENSP00000343764:G5220R	ENSP00000343764:G5220R	G	-	1	0	TTN	179301508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.507000	0.60434	2.826000	0.97356	0.655000	0.94253	GGA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	14	0	0	0	1	0	5	14					T	179593263	C	T	179593263	3	4	303	1	0	0	0	0	1	0	0	0	16732	661	23	1	85327	1	TTN	2	179593263	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	65804561	179593263	63606110	3	30845											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	44	0	0	0	1	0	29	44					T	209113112	C	T	209113112	3	4	303	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	29519849	209113112	34086261	4	30846											
EIF4A2	1974	broad.mit.edu	37	chr3	186501406	186501406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtttttcggatcatgtctGgtggctccgcggattataac	12	8	2	0			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	ENST00000323963.5	+	1	71	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	EIF4A2_ENST00000356531.5_5'UTR|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3C|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					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)		GATCATGTCTGGTGGCTCCGC	0.572			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"eukaryotic translation initiation factor 4A, isoform 2"			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(7-9)Ggt>Tgt		eukaryotic translation initiation factor 4A2							141	143	143					3																	186501406		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186501406G>T	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.7G>T	3.37:g.186501406G>T	ENSP00000326381:p.Gly3Cys					RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3C	p.G3C			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	1	71	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		3					D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.7G>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406533	0.62399	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.32988	1.43;1.61;1.61	4.48	4.48	0.54585	.	0.632453	0.16522	N	0.210774	T	0.23014	0.0556	L	0.29908	0.895	0.80722	D	1	B;P	0.45348	0.329;0.856	B;B	0.36418	0.224;0.219	T	0.13361	-1.0512	10	0.72032	D	0.01	-22.682	15.0416	0.71796	0.0:0.0:1.0:0.0	.	3;3	Q14240-2;Q14240	.;IF4A2_HUMAN	C	3	ENSP00000415878:G3C;ENSP00000326381:G3C;ENSP00000398370:G3C	ENSP00000326381:G3C	G	+	1	0	EIF4A2	187984100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	2.475000	0.83589	0.563000	0.77884	GGT		0.572	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		53	86	1	0	7.89702e-26	1	8.75075e-26	53	86					T	186501406	G	T	186501406	3	4	303	1	0	0	0	0	1	0	0	0	5025	1348	47	4	9	4	EIF4A2	3	186501406	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		186501406	11521024	5	30847											
BBS7	55212	broad.mit.edu	37	chr4	122756377	122756377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcggacctgacaggttttgGgttgaattcttggagtcaca	14	7	2	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	ENST00000264499.4	-	14	1616	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	BBS7_ENST00000506636.1_Missense_Mutation_p.P478H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	478					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						ACAGGTTTTGGGTTGAATTCT	0.393									Bardet-Biedl syndrome																													ENST00000264499.4																			0				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						c.(1432-1434)cCc>cAc		Bardet-Biedl syndrome 7							224	205	211					4																	122756377		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122756377G>T	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.1433C>A	4.37:g.122756377G>T	ENSP00000264499:p.Pro478His					BBS7_ENST00000506636.1_Missense_Mutation_p.P478H	p.P478H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			14	1616	-			478					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1433C>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808853	0.90707	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.97016	-4.21;-4.18	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99383	1.0923	10	0.87932	D	0	-8.5228	19.2795	0.94046	0.0:0.0:1.0:0.0	.	478	Q8IWZ6	BBS7_HUMAN	H	478	ENSP00000264499:P478H;ENSP00000423626:P478H	ENSP00000264499:P478H	P	-	2	0	BBS7	122975827	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.748000	0.98867	2.549000	0.85964	0.650000	0.86243	CCC		0.393	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			18	44	1	0	5.3912e-06	1	5.81683e-06	18	44					T	122756377	G	T	122756377	3	4	303	1	0	0	0	0	1	0	0	0	1341	1232	43	4	743	4	BBS7	4	122756377	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		122756377	68397899	6	30848											
ROPN1L	83853	broad.mit.edu	37	chr5	10461352	10461352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacggacgatccggagggCgggcccgctcgcatcccctt	13	17	1	0	rs539286998		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	ENST00000503804.1	+	5	995	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ROPN1L_ENST00000274134.4_Silent_p.G158G|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	158					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCGGAGGGCGGGCCCGCTC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17318	0.0		0.0	False		,,,				2504	0.001					ENST00000503804.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						c.(472-474)ggC>ggT		rhophilin associated tail protein 1-like							104	93	96					5																	10461352		2203	4300	6503	SO:0001819	synonymous_variant	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461352C>T	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"radial spoke head 11 homolog (Chlamydomonas)"	611756	"ropporin 1-like"			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.474C>T	5.37:g.10461352C>T						ROPN1L_ENST00000274134.4_Silent_p.G158G|ROPN1L_ENST00000510520.1_3'UTR	p.G158G			Q96C74	ROP1L_HUMAN			5	995	+			158					D3DTC9|Q9BZX0	Silent	SNP	ENST00000503804.1	37	c.474C>T	CCDS3879.1																																																																																				0.567	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		53	87	0	0	0	1	0	53	87					T	10461352	C	T	10461352	2	4	303	1	0	0	0	0	0	0	0	1	13525	755	27	1		1	ROPN1L	5	10461352	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		10461352	170453908	7	30849											
SIM1	6492	broad.mit.edu	37	chr6	100911318	100911318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctccctcctagtccgCgcagcatttttggacttttc	6	15	1	0			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	ENST00000369208.3	-	2	809	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_ENST00000262901.4_Silent_p.A9A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	9	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)		TCCTAGTCCGCGCAGCATTTT	0.423																																						ENST00000369208.3																			0				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						c.(25-27)gcG>gcA		single-minded family bHLH transcription factor 1							232	239	237					6																	100911318		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100911318C>T	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.27G>A	6.37:g.100911318C>T						SIM1_ENST00000262901.4_Silent_p.A9A	p.A9A			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	809	-		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)	9					Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.27G>A	CCDS5045.1																																																																																				0.423	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		24	148	0	0	0	1	0	24	148					T	100911318	C	T	100911318	2	4	303	1	0	0	0	0	0	0	0	1	14323	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		100911318	70203749	8	30850											
SYNE1	23345	broad.mit.edu	37	chr6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgactcgatgtgagCgagccaggtcctcaggctgc	13	13	2	2	rs372990463		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	ENST00000367255.5	-	131	24305	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7902					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)		TCGATGTGAGCGAGCCAGGTC	0.502										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(23704-23706)Gct>Act		spectrin repeat containing, nuclear envelope 1		C	THR/ALA,THR/ALA	0,4406		0,0,2203	103	92	96		23491,23704	3.4	1	6		96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	7831/8750,7902/8798	152485384	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152485384C>T	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.23704G>A	6.37:g.152485384C>T	ENSP00000356224:p.Ala7902Thr	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T	p.A7902T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	131	24305	-		Ovarian(120;0.0955)	7902					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23704G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998983	0.74818	0.0	2.33E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.26	3.37	0.38596	.	0.252994	0.27549	N	0.018862	T	0.36744	0.0978	N	0.22421	0.69	0.42346	D	0.992356	D;D;D;D;P	0.71674	0.985;0.998;0.998;0.998;0.896	P;D;P;D;B	0.64321	0.821;0.924;0.876;0.924;0.378	T	0.34976	-0.9807	10	0.56958	D	0.05	.	9.5516	0.39313	0.142:0.7837:0.0:0.0743	.	7902;7902;7831;7831;104	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	T	7902;57;548;7831;7902;7831;7514;2426;64;59;824;57	ENSP00000356224:A7902T;ENSP00000441052:A57T;ENSP00000356226:A548T;ENSP00000396024:A7831T;ENSP00000265368:A7902T;ENSP00000390975:A7831T;ENSP00000341887:A7514T;ENSP00000349276:A2426T;ENSP00000356220:A824T;ENSP00000346701:A57T	ENSP00000265368:A7902T	A	-	1	0	SYNE1	152527077	0.775000	0.28604	0.965000	0.40720	0.856000	0.48823	1.510000	0.35790	1.219000	0.43474	-0.225000	0.12378	GCT		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		58	25	0	0	0	1	0	58	25					T	152485384	C	T	152485384	3	4	303	1	0	0	0	0	1	0	0	0	15442	768	27	1	2826	1	SYNE1	6	152485384	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	51574066	152485384	18629683	9	30851											
CYP2C9	1559	broad.mit.edu	37	chr10	96698494	96698494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtttgcttctcctttcaCtctggagacagagctctggg	10	11	4	2	rs67807361	byFrequency	TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr10:96698494C>A	ENST00000260682.6	+	1	67	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	19			L -> I (in allele CYP2C9*7).		arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCCTTTCACTCTGGAGACA	0.473													C|||	7	0.00139776	0.0	0.0	5008	,	,		19674	0.0		0.0	False		,,,				2504	0.0072				Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(55-57)Ctc>Atc		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						227	216	220					10																	96698494		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96698494C>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.55C>A	10.37:g.96698494C>A	ENSP00000260682:p.Leu19Ile					CYP2C9_ENST00000461906.1_3'UTR	p.L19I	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	1	67	+		Colorectal(252;0.0902)	19		L -> I (in allele CYP2C9*7).			P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.55C>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	9.611	1.131392	0.21041	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.70399	-0.48	3.69	0.651	0.17817	.	3.511600	0.03098	U	0.160675	T	0.61800	0.2376	L	0.50333	1.59	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.08055	0.003;0.003;0.003	T	0.27262	-1.0079	10	0.27785	T	0.31	.	2.9293	0.05794	0.378:0.3982:0.0:0.2237	.	19;19;19	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	I	19	ENSP00000260682:L19I	ENSP00000260682:L19I	L	+	1	0	CYP2C9	96688484	0.000000	0.05858	0.001000	0.08648	0.429000	0.31625	-0.675000	0.05227	0.305000	0.22832	0.484000	0.47621	CTC		0.473	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		5	119	1	0	3.59834e-05	1	3.78287e-05	5	119					A	96698494	C	A	96698494	3	1	303	1	0	0	0	0	1	0	0	0	4168	565	20	4	57	4	CYP2C9	10	96698494	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08		96698494	38836253	10	30852											
MS4A3	932	broad.mit.edu	37	chr11	59830060	59830060	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttctacacaggctacccGatttggggtgctgtgtttgt	11	10	1	0	rs376718907		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	ENST00000278865.3	+	3	349	c.276G>A	c.(274-276)ccG>ccA	p.P92P	MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	92						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423																																						ENST00000278865.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(274-276)ccG>ccA		membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)		G	,,	1,4401	2.1+/-5.4	0,1,2200	159	147	151		,,276	-9.2	0	11		151	0,8590		0,0,4295	no	intron,intron,coding-synonymous	MS4A3	NM_001031666.1,NM_001031809.1,NM_006138.4	,,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,,	,,92/215	59830060	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59830060G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.276G>A	11.37:g.59830060G>A						MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000395032.2_Intron	p.P92P	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN			3	349	+		all_epithelial(135;0.245)	92					A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.276G>A	CCDS31567.1																																																																																				0.423	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			47	57	0	0	0	1	0	47	57					A	59830060	G	A	59830060	2	1	303	1	0	0	0	0	0	0	0	1	9861	1045	37	1		1	MS4A3	11	59830060	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		59830060	75176456	11	30853											
IL18	3606	broad.mit.edu	37	chr11	112014361	112014361	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacattatagatctatccccCaattcatcctcttttttcaa	1	12	4	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:112014361C>A	ENST00000280357.7	-	6	759	c.540G>T	c.(538-540)ttG>ttT	p.L180F	IL18_ENST00000528832.1_Missense_Mutation_p.L180F|IL18_ENST00000533858.1_5'Flank|SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Missense_Mutation_p.L176F	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	180					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|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-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATCTATCCCCCAATTCATCCT	0.388																																						ENST00000280357.7																			0											c.(538-540)ttG>ttT		interleukin 18 (interferon-gamma-inducing factor)							50	47	48					11																	112014361		1818	4076	5894	SO:0001583	missense	3606				angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity	g.chr11:112014361C>A	U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"Interleukins and interleukin receptors"	5986	protein-coding gene	gene with protein product	"interferon-gamma-inducing factor"	600953	"interleukin 18 (interferon-gamma-inducing factor)"			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.540G>T	11.37:g.112014361C>A	ENSP00000280357:p.Leu180Phe					SDHD_ENST00000532699.1_Intron|IL18_ENST00000524595.1_Missense_Mutation_p.L176F|IL18_ENST00000528832.1_Missense_Mutation_p.L180F	p.L180F	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)	6	759	-		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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)	180					O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	ENST00000280357.7	37	c.540G>T	CCDS44731.1	.	.	.	.	.	.	.	.	.	.	C	1.899	-0.453505	0.04540	.	.	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	T;T;T	0.18810	2.19;2.19;2.19	4.85	-1.85	0.07784	.	2.565290	0.01303	N	0.010361	T	0.13457	0.0326	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23735	0.072;0.072;0.09	B;B;B	0.28991	0.033;0.033;0.097	T	0.18147	-1.0346	10	0.10111	T	0.7	-30.3423	5.1803	0.15156	0.2828:0.3072:0.0:0.41	.	176;180;180	Q6WWJ7;Q14116;Q96KJ8	.;IL18_HUMAN;.	F	180;176;180	ENSP00000280357:L180F;ENSP00000434561:L176F;ENSP00000434161:L180F	ENSP00000280357:L180F	L	-	3	2	IL18	111519571	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.402000	0.07223	0.026000	0.15269	-1.432000	0.01085	TTG		0.388	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392409.1	NM_001562		6	10	1	0	0.0215528	1	0.0220916	6	10					A	112014361	C	A	112014361	3	1	303	1	0	0	0	0	1	0	0	0	7645	593	21	4	45	4	IL18	11	112014361	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	52184301	112014361	22992155	12	30854											
CADM1	23705	broad.mit.edu	37	chr11	115109342	115109342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcactgctagaaaaaTtcagcaactgaaacctgctg	8	9	2	3			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	ENST00000452722.3	-	3	322	c.302A>G	c.(301-303)aAt>aGt	p.N101S	CADM1_ENST00000536727.1_Missense_Mutation_p.N101S|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_Missense_Mutation_p.N101S|CADM1_ENST00000331581.6_Missense_Mutation_p.N101S|CADM1_ENST00000537058.1_Missense_Mutation_p.N101S	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(301-303)aAt>aGt		cell adhesion molecule 1							82	81	81					11																	115109342		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115109342T>C	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.302A>G	11.37:g.115109342T>C	ENSP00000395359:p.Asn101Ser					CADM1_ENST00000452722.2_Missense_Mutation_p.N101S|CADM1_ENST00000536727.1_Missense_Mutation_p.N101S|CADM1_ENST00000537058.1_Missense_Mutation_p.N101S|CADM1_ENST00000331581.6_Missense_Mutation_p.N101S|CADM1_ENST00000537140.1_5'UTR	p.N101S	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	430	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	101			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.302A>G	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.34|15.34	2.805699|2.805699	0.50315|0.50315	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000543249|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094	.|T;T;T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.81|5.81	5.81|5.81	0.92471|0.92471	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69187|0.69187	0.3083|0.3083	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D	.|0.76494	.|0.998;0.999;0.999;0.236;0.997	.|D;D;D;B;D	.|0.81914	.|0.987;0.995;0.994;0.18;0.983	T|T	0.63808|0.63808	-0.6553|-0.6553	5|10	.|0.06099	.|T	.|0.92	.|.	16.167|16.167	0.81768|0.81768	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|101;101;102;101;101	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	V|S	85|101;101;101;101;60;101;68	.|ENSP00000439176:N101S;ENSP00000395359:N101S;ENSP00000439817:N101S;ENSP00000440322:N101S;ENSP00000329797:N101S;ENSP00000439696:N68S	.|ENSP00000329797:N101S	I|N	-|-	1|2	0|0	CADM1|CADM1	114614552|114614552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.665000|7.665000	0.83852|0.83852	2.214000|2.214000	0.71695|0.71695	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.393	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		27	27	0	0	0	1	0	27	27					C	115109342	T	C	115109342	3	2	303	1	0	0	0	0	1	0	0	0	2566	1493	52	3	1058	3	CADM1	11	115109342	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	3094981	115109342	19897174	13	30855											
KERA	11081	broad.mit.edu	37	chr12	91445220	91445220	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagacggaggtagcgaagaTgaggtccataactgaaggaa	14	7	0	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	ENST00000266719.3	-	3	1209	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	321					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTAGCGAAGATGAGGTCCATA	0.438																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(961-963)cAt>cGt		keratocan							123	103	110					12																	91445220		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91445220T>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.962A>G	12.37:g.91445220T>C	ENSP00000266719:p.His321Arg						p.H321R	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			3	1209	-			321						Missense_Mutation	SNP	ENST00000266719.3	37	c.962A>G	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	T	1.533	-0.543795	0.04053	.	.	ENSG00000139330	ENST00000266719	T	0.17528	2.27	5.62	1.99	0.26369	.	0.198636	0.53938	N	0.000055	T	0.07234	0.0183	N	0.16862	0.45	0.24595	N	0.993802	B	0.02656	0.0	B	0.01281	0.0	T	0.41538	-0.9503	10	0.02654	T	1	-6.5436	6.7997	0.23744	0.0:0.5814:0.0:0.4186	.	321	O60938	KERA_HUMAN	R	321	ENSP00000266719:H321R	ENSP00000266719:H321R	H	-	2	0	KERA	89969351	0.640000	0.27243	0.978000	0.43139	0.415000	0.31203	1.114000	0.31196	0.416000	0.25844	-0.256000	0.11100	CAT		0.438	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		12	28	0	0	0	1	0	12	28					C	91445220	T	C	91445220	3	2	303	1	0	0	0	0	1	0	0	0	8143	1464	51	3	100	3	KERA	12	91445220	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08		91445220	42406675	14	30856											
LRRC43	254050	broad.mit.edu	37	chr12	122684844	122684844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgaaggccttcctgctGgcggggaccaccgtgaccat	12	15	0	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	ENST00000339777.4	+	8	1486	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	LRRC43_ENST00000425921.1_Silent_p.L301L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	486										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1456-1458)ctG>ctA		leucine rich repeat containing 43							77	85	82					12																	122684844		2126	4229	6355	SO:0001819	synonymous_variant	254050							g.chr12:122684844G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1458G>A	12.37:g.122684844G>A						LRRC43_ENST00000425921.1_Silent_p.L301L	p.L486L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	8	1486	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		486					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.1458G>A	CCDS45001.1																																																																																				0.627	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		6	108	0	0	0	1	0	6	108					A	122684844	G	A	122684844	2	1	303	1	0	0	0	0	0	0	0	1	9001	1335	47	2		2	LRRC43	12	122684844	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08	31239624	122684844	11167051	15	30857											
CDK10	8558	broad.mit.edu	37	chr16	89755723	89755723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattggagagggtacctacGgcattgtgtgtgagtggcca	16	7	0	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	ENST00000353379.7	+	2	194	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR|RP11-368I7.4_ENST00000567544.1_5'Flank	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	51	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)		GGGTACCTACGGCATTGTGTG	0.582																																						ENST00000353379.7																			0				ovary(1)	1						c.(151-153)Ggc>Agc		cyclin-dependent kinase 10							193	144	161					16																	89755723		2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89755723G>A	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.151G>A	16.37:g.89755723G>A	ENSP00000338673:p.Gly51Ser					CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron	p.G51S	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	2	194	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	51			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.151G>A	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	G	32	5.174737	0.94807	.	.	ENSG00000185324	ENST00000393082;ENST00000353379	T	0.64085	-0.08	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049590	0.85682	D	0.000000	T	0.79281	0.4419	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.82246	-0.0552	10	0.66056	D	0.02	-29.4107	17.8045	0.88598	0.0:0.0:1.0:0.0	.	51	Q15131	CDK10_HUMAN	S	22;51	ENSP00000338673:G51S	ENSP00000338673:G51S	G	+	1	0	CDK10	88283224	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	8.702000	0.91338	2.202000	0.70862	0.561000	0.74099	GGC		0.582	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			28	41	0	0	0	1	0	28	41					A	89755723	G	A	89755723	3	1	303	1	0	0	0	0	1	0	0	0	3125	1116	39	1	157	1	CDK10	16	89755723	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		89755723	599030	16	30858											
TP53	7157	broad.mit.edu	37	chr17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-													atggcgcggacgcgggtgccGggcgggggtgtggaatcaac					rs137852790|rs137852791|rs72661116		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	ENST00000269305.4	-	5	648	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	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	153	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(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)	CGCGGGTGCCGGGCGGGGGTG	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		48	Deletion - Frameshift(21)|Whole gene deletion(8)|Substitution - coding silent(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Insertion - In frame(1)	p.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(1)	skin(8)|ovary(7)|upper_aerodigestive_tract(5)|stomach(4)|breast(4)|bone(4)|central_nervous_system(3)|urinary_tract(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|large_intestine(1)|soft_tissue(1)|liver(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						c.(457-459)ccfs	Other conserved DNA damage response genes	tumor protein p53							50	51	51					17																	7578471		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578471delG	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.459delC	17.37:g.7578471delG	ENSP00000269305:p.Pro153fs	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)				TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	591	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	153		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.459delC	CCDS11118.1																																																																																				0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		70	28						70	28	---	---	---	---	-	7578471	G	-	7578471	7	5	303	1	0	1	0	1	0	0	0	0	16378	1103	39	0	839	0	TP53	17	7578471	Frame_Shift_Del	DEL	G	TCGA-HT-8108-01A-11D-2395-08		7578471	73616739	17	30859											
GNAL	2774	broad.mit.edu	37	chr18	11880999	11880999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagaggatcagcacGgccaccggtgacggcaaaca	12	13	2	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	ENST00000423027.3	+	12	1332	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	GNAL_ENST00000334049.6_Silent_p.T414T|GNAL_ENST00000602628.1_Silent_p.T130T|GNAL_ENST00000535121.1_Silent_p.T337T|GNAL_ENST00000269162.5_Silent_p.T337T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	337					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)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGATCAGCACGGCCACCGGTG	0.622																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1240-1242)acG>acA		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							93	66	75					18																	11880999		2203	4300	6503	SO:0001819	synonymous_variant	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11880999G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.1011G>A	18.37:g.11880999G>A						GNAL_ENST00000602628.1_Silent_p.T130T|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Silent_p.T337T|GNAL_ENST00000423027.3_Silent_p.T337T|GNAL_ENST00000269162.5_Silent_p.T337T	p.T414T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			12	1850	+			337					B7ZA26|Q86XU3	Silent	SNP	ENST00000423027.3	37	c.1242G>A	CCDS11852.1																																																																																				0.622	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		26	47	0	0	0	1	0	26	47					A	11880999	G	A	11880999	2	1	303	1	0	0	0	0	0	0	0	1	6507	1103	39	1		1	GNAL	18	11880999	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		11880999	66196249	18	30860											
OPHN1	4983	broad.mit.edu	37	chrX	67414334	67414334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgttttgttatagggctgtGgtagatctacaaaagaagat	11	4	1	3			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	ENST00000355520.5	-	13	1752	c.1111C>G	c.(1111-1113)Cac>Gac	p.H371D	OPHN1_ENST00000540071.1_Missense_Mutation_p.H371D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	371					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						ATAGGGCTGTGGTAGATCTAC	0.348																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1111-1113)Cac>Gac		oligophrenin 1							142	121	128					X																	67414334		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67414334G>C	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.1111C>G	X.37:g.67414334G>C	ENSP00000347710:p.His371Asp					OPHN1_ENST00000540071.1_Missense_Mutation_p.H371D	p.H371D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			13	1752	-			371					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1111C>G	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591471	0.46214	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.05855	3.38;3.39	4.98	4.98	0.66077	Rho GTPase-activating protein domain (1);	0.048272	0.85682	D	0.000000	T	0.10294	0.0252	L	0.40543	1.245	0.49389	D	0.999788	P;D	0.61080	0.718;0.989	B;P	0.50970	0.201;0.655	T	0.31280	-0.9949	10	0.21014	T	0.42	.	14.8163	0.70036	0.0:0.0:1.0:0.0	.	371;371	F5H2E3;O60890	.;OPHN1_HUMAN	D	371	ENSP00000347710:H371D;ENSP00000438617:H371D	ENSP00000347710:H371D	H	-	1	0	OPHN1	67331059	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.307000	0.72815	2.471000	0.83476	0.597000	0.82753	CAC		0.348	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		19	25	0	0	0	1	0	19	25					C	67414334	G	C	67414334	3	2	303	1	0	0	0	0	1	0	0	0	10875	1348	47	4	1345	4	OPHN1	23	67414334	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		67414334	87856226	19	30861											
RGAG4	340526	broad.mit.edu	37	chrX	71350844	71350844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacccgctcggcgccccCggggaaatgaacctcatggt	13	16	1	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	ENST00000545866.1	-	1	914	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.G183R	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	183										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(547-549)Ggg>Agg		retrotransposon gag domain containing 4							26	29	28					X																	71350844		1877	4084	5961	SO:0001583	missense	340526							g.chrX:71350844C>T	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.547G>A	X.37:g.71350844C>T	ENSP00000441366:p.Gly183Arg					RGAG4_ENST00000479991.1_Missense_Mutation_p.G183R|NHSL2_ENST00000540800.1_Intron	p.G183R			Q5HYW3	RGAG4_HUMAN			1	914	-	Renal(35;0.156)		183					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.547G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817325	0.50633	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.11821	2.74;2.74	4.59	1.82	0.25136	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.21220	N	0.999758	P	0.34826	0.471	B	0.23716	0.048	T	0.38045	-0.9679	8	.	.	.	-10.2461	4.2256	0.10579	0.0:0.6114:0.1909:0.1976	.	183	Q5HYW3	RGAG4_HUMAN	R	183	ENSP00000441366:G183R;ENSP00000418667:G183R	.	G	-	1	0	RGAG4	71267569	0.767000	0.28508	0.497000	0.27552	0.980000	0.70556	0.496000	0.22499	0.251000	0.21505	0.600000	0.82982	GGG		0.582	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		4	69	0	0	0	1	0	4	69					T	71350844	C	T	71350844	3	4	303	1	0	0	0	0	1	0	0	0	13275	652	23	1	1166	1	RGAG4	23	71350844	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	3936510	71350844	83919716	20	30862											
ATRX	546	broad.mit.edu	37	chrX	76813062	76813063	+	Frame_Shift_Ins	INS	-	-	AG													tgctgatcaacaactcgaaaINSagacagtgactgcttagtta							TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	ENST00000373344.5	-	30	6772_6773	c.6558_6559insCT	c.(6556-6561)tcttttfs	p.F2187fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F2149fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2187	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						ACAACTCGAAAAGACAGTGACT	0.347			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6556-6561)tcttcgfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813062_76813063insAG	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.6557_6558dupCT	X.37:g.76813063_76813064dupAG	ENSP00000362441:p.Phe2187fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S2149fs|ATRX_ENST00000480283.1_5'UTR	p.S2187fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6772_6773	-			2187			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.6558_6559insCT	CCDS14434.1																																																																																				0.347	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		65	100						65	100	---	---	---	---	AG	76813063	-	AG	76813062	7	5	303	1	0	1	1	0	0	0	0	0	1208	14	1	0	943	0	ATRX	23	76813062	Frame_Shift_Ins	INS	-	TCGA-HT-8108-01A-11D-2395-08	5462218	76813062	78457498	21	30863											
IRS4	8471	broad.mit.edu	37	chrX	107979043	107979043	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttctcggccaccatcgCgaagtattcgtcttgggtga	11	12	2	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	ENST00000372129.2	-	1	608	c.532G>C	c.(532-534)Gcg>Ccg	p.A178P	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	178	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						GCCACCATCGCGAAGTATTCG	0.612																																						ENST00000372129.2																			0				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						c.(532-534)Gcg>Ccg		insulin receptor substrate 4							68	56	60					X																	107979043		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979043C>G	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.532G>C	X.37:g.107979043C>G	ENSP00000361202:p.Ala178Pro						p.A178P	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	608	-			178			PH.			Missense_Mutation	SNP	ENST00000372129.2	37	c.532G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448546	0.63178	.	.	ENSG00000133124	ENST00000372129	T	0.72282	-0.64	4.16	4.16	0.48862	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.071102	0.53938	D	0.000043	D	0.83834	0.5340	M	0.78049	2.395	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.86711	0.1936	10	0.72032	D	0.01	-10.7364	15.9303	0.79654	0.0:1.0:0.0:0.0	.	178	O14654	IRS4_HUMAN	P	178	ENSP00000361202:A178P	ENSP00000361202:A178P	A	-	1	0	IRS4	107865699	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	7.525000	0.81892	1.920000	0.55613	0.600000	0.82982	GCG		0.612	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		27	68	0	0	0	1	0	27	68					G	107979043	C	G	107979043	3	3	303	1	0	0	0	0	1	0	0	0	7842	768	27	4	3245	4	IRS4	23	107979043	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	31165981	107979043	47291517	22	30864											
ODZ1	10178	broad.mit.edu	37	chrX	123518058	123518058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttattgtaggctttctgCagcaggccattagaattata	9	8	1	1	rs201176122		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:123518058C>T	ENST00000371130.3	-	29	6765	c.6702G>A	c.(6700-6702)ctG>ctA	p.L2234L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.L2241L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2234					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)										AGGCTTTCTGCAGCAGGCCAT	0.458													C|||	4	0.0010596	0.0	0.0	3775	,	,		15694	0.004		0.0	False		,,,				2504	0.0					ENST00000422452.2																			0											c.(6721-6723)ctG>ctA		teneurin transmembrane protein 1							52	50	51					X																	123518058		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123518058C>T	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.6702G>A	X.37:g.123518058C>T						TENM1_ENST00000371130.3_Silent_p.L2234L|STAG2_ENST00000469481.1_Intron	p.L2241L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6786	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.6723G>A	CCDS14609.1																																																																																				0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		47	65	0	0	0	1	0	47	65					T	123518058	C	T	123518058	2	4	303	1	0	0	0	0	0	0	0	1	10834	697	25	2		2	ODZ1	23	123518058	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08	15539015	123518058	31752502	23	30865											
RENBP	5973	broad.mit.edu	37	chrX	153208518	153208518	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgatctgatccatcatcTccaccgcttccgtctggggg	11	14	4	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	ENST00000393700.3	-	6	556	c.476A>C	c.(475-477)gAg>gCg	p.E159A	RENBP_ENST00000369997.3_Missense_Mutation_p.E145A|RENBP_ENST00000412763.1_Missense_Mutation_p.E159A|RENBP_ENST00000462086.1_5'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	159					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(475-477)gAg>gCg		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						15	12	13					X																	153208518		2190	4281	6471	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153208518T>G		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.476A>C	X.37:g.153208518T>G	ENSP00000377303:p.Glu159Ala					RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.E159A|RENBP_ENST00000369997.3_Missense_Mutation_p.E145A	p.E159A	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			6	556	-	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)		159					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.476A>C	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	T	7.451	0.642716	0.14451	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.32988	1.51;1.43;1.51	3.92	1.35	0.21983	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.473921	0.22547	U	0.058655	T	0.24586	0.0596	L	0.58669	1.825	0.25995	N	0.982192	B;B	0.23990	0.051;0.095	B;B	0.23574	0.023;0.047	T	0.17319	-1.0373	10	0.33141	T	0.24	-8.1491	4.9509	0.14013	0.0:0.1069:0.3541:0.539	.	159;159	P51606-2;P51606	.;RENBP_HUMAN	A	159;159;145	ENSP00000377303:E159A;ENSP00000387811:E159A;ENSP00000359014:E145A	ENSP00000359014:E145A	E	-	2	0	RENBP	152861712	0.972000	0.33761	0.195000	0.23364	0.190000	0.23558	1.204000	0.32296	0.002000	0.14630	0.153000	0.16174	GAG		0.711	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		21	20	0	0	0	1	0	21	20					G	153208518	T	G	153208518	3	3	303	1	0	0	0	0	1	0	0	0	13225	1551	54	5	831	5	RENBP	23	153208518	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	29690460	153208518	2062042	24	30866											
C1orf38	9473	broad.mit.edu	37	chr1	28209255	28209255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctctgacctccttcctgGgcctgcggctggaggagaag	13	14	1	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:28209255G>A	ENST00000373921.3	+	4	1424	c.1420G>A	c.(1420-1422)Ggc>Agc	p.G474S	THEMIS2_ENST00000328928.7_Missense_Mutation_p.G345S|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	474	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCCTTCCTGGGCCTGCGGCT	0.602																																						ENST00000373921.3																			0											c.(1420-1422)Ggc>Agc		thymocyte selection associated family member 2							69	70	69					1																	28209255		2064	4206	6270	SO:0001583	missense	9473							g.chr1:28209255G>A	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.1420G>A	1.37:g.28209255G>A	ENSP00000363031:p.Gly474Ser					THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.G345S	p.G474S	NM_001105556.1	NP_001099026.1					4	1424	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1420G>A	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.536510|1.536510	0.27475|0.27475	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.13538|.	2.58;2.58|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.280340|.	0.38778|.	N|.	0.001563|.	T|.	0.53850|.	0.1822|.	L|L	0.58669|0.58669	1.825|1.825	0.20403|0.20403	N|N	0.99991|0.99991	P;D;P|.	0.89917|.	0.649;1.0;0.63|.	B;D;B|.	0.83275|.	0.256;0.996;0.403|.	T|.	0.47812|.	-0.9088|.	10|.	0.41790|.	T|.	0.15|.	-23.9582|-23.9582	12.448|12.448	0.55662|0.55662	0.0:0.0:0.7225:0.2775|0.0:0.0:0.7225:0.2775	.|.	345;278;474|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	S|X	345;474|221	ENSP00000329862:G345S;ENSP00000363031:G474S|.	ENSP00000329862:G345S|.	G|W	+|+	1|3	0|0	C1orf38|C1orf38	28081842|28081842	0.262000|0.262000	0.24073|0.24073	0.952000|0.952000	0.39060|0.39060	0.090000|0.090000	0.18270|0.18270	1.176000|1.176000	0.31957|0.31957	2.489000|2.489000	0.83994|0.83994	0.555000|0.555000	0.69702|0.69702	GGC|TGG		0.602	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		6	84	0	0	0	1	0	6	84					A	28209255	G	A	28209255	3	1	304	1	0	0	0	0	1	0	0	0	2039	1232	43	2	1434	2	C1orf38	1	28209255	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		28209255	221041366	1	30867											
KTI12	112970	broad.mit.edu	37	chr1	52498859	52498865	+	Frame_Shift_Del	DEL	GAATCCG	GAATCCG	-													catgctttgcagatttctctGaatccggagtcacaagagct					rs2783175	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:52498859_52498865delGAATCCG	ENST00000371614.1	-	1	623_629	c.569_575delCGGATTC	c.(568-576)ccggattcafs	p.PDS190fs	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	190							ATP binding (GO:0005524)	p.D191E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AGATTTCTCTGAATCCGGAGTCACAAG	0.575																																						ENST00000371614.1																			1	Substitution - Missense(1)	p.D191E(1)	stomach(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(568-576)cafs		KTI12 homolog, chromatin associated (S. cerevisiae)																																				SO:0001589	frameshift_variant	112970						ATP binding	g.chr1:52498859_52498865delGAATCCG		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.569_575delCGGATTC	1.37:g.52498859_52498865delGAATCCG	ENSP00000360676:p.Pro190fs					TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	p.PDS190fs	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	623_629	-			190						Frame_Shift_Del	DEL	ENST00000371614.1	37	c.569_575delCGGATTC	CCDS562.1																																																																																				0.575	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		11	97						11	97	---	---	---	---	-	52498865	GAATCCG	-	52498859	7	5	304	1	0	1	0	1	0	0	0	0	8584	1294	45	0	493	0	KTI12	1	52498859	Frame_Shift_Del	DEL	GAATCCG	TCGA-HT-8109-01A-11D-2395-08	24289604	52498859	196751762	2	30868											
KCNA10	3744	broad.mit.edu	37	chr1	111060317	111060317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgccttcagtgtttgccCgaggatctgcagccccttgg	13	13	2	0	rs190117605		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:111060317C>T	ENST00000369771.2	-	1	1480	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	365					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)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGTGTTTGCCCGAGGATCTGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20618	0.0		0.001	False		,,,				2504	0.0					ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1093-1095)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 10							98	95	96					1																	111060317		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060317C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1093G>A	1.37:g.111060317C>T	ENSP00000358786:p.Gly365Arg						p.G365R	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1480	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	365						Missense_Mutation	SNP	ENST00000369771.2	37	c.1093G>A	CCDS826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.76	3.211498	0.58343	.	.	ENSG00000143105	ENST00000369771	D	0.98701	-5.08	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99544	1.0964	10	0.87932	D	0	.	18.3064	0.90184	0.0:1.0:0.0:0.0	.	365	Q16322	KCA10_HUMAN	R	365	ENSP00000358786:G365R	ENSP00000358786:G365R	G	-	1	0	KCNA10	110861840	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	7.815000	0.86186	2.676000	0.91093	0.558000	0.71614	GGG		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		73	59	0	0	0	1	0	73	59					T	111060317	C	T	111060317	3	4	304	1	0	0	0	0	1	0	0	0	8002	652	23	1	446	1	KCNA10	1	111060317	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	58561458	111060317	138190304	3	30869											
DUSP27	92235	broad.mit.edu	37	chr1	167096396	167096396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctgatggggacacgacGtcagtactgagcacccagag	14	11	1	3	rs376593703		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:167096396G>A	ENST00000361200.2	+	6	2194	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	DUSP27_ENST00000271385.5_Silent_p.T676T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T676T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					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						GGGACACGACGTCAGTACTGA	0.637																																						ENST00000361200.2																			0				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						c.(2026-2028)acG>acA		dual specificity phosphatase 27 (putative)		G		0,4406		0,0,2203	48	49	49		2028	-9.1	0	1		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DUSP27	NM_001080426.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		676/1159	167096396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096396G>A	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.2028G>A	1.37:g.167096396G>A						DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T676T|DUSP27_ENST00000271385.5_Silent_p.T676T	p.T676T			Q5VZP5	DUS27_HUMAN			6	2194	+			676					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2028G>A	CCDS30932.1																																																																																				0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	45	0	0	0	1	0	5	45					A	167096396	G	A	167096396	2	1	304	1	0	0	0	0	0	0	0	1	4824	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	56036079	167096396	82154225	4	30870											
PRG4	10216	broad.mit.edu	37	chr1	186276487	186276487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactaccaagtctgcaCccaccactcccaaggagcct	5	20	1	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:186276487C>T	ENST00000445192.2	+	7	1681	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S|PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	546	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				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						CAAGTCTGCACCCACCACTCC	0.642																																						ENST00000445192.2																			0				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						c.(1636-1638)Ccc>Tcc		proteoglycan 4							141	125	130					1																	186276487		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276487C>T	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.1636C>T	1.37:g.186276487C>T	ENSP00000399679:p.Pro546Ser					PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S|PRG4_ENST00000367484.3_Intron	p.P546S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1681	+			546			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1636C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	3.432	-0.115969	0.06881	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07688	3.18;3.27;3.17;3.29	2.25	1.25	0.21368	.	.	.	.	.	T	0.05914	0.0154	L	0.34521	1.04	0.09310	N	0.999995	B;B;B;B	0.26081	0.087;0.087;0.141;0.041	B;B;B;B	0.23574	0.047;0.047;0.021;0.047	T	0.39418	-0.9615	8	.	.	.	.	5.0698	0.14600	0.0:0.6095:0.2425:0.1479	.	412;453;546;505	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	503;412;505;453;546	ENSP00000356456:P503S;ENSP00000356453:P505S;ENSP00000356455:P453S;ENSP00000399679:P546S	.	P	+	1	0	PRG4	184543110	0.000000	0.05858	0.008000	0.14137	0.013000	0.08279	-0.001000	0.12947	0.982000	0.38575	0.437000	0.28790	CCC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		42	81	0	0	0	1	0	42	81					T	186276487	C	T	186276487	3	4	304	1	0	0	0	0	1	0	0	0	12481	507	18	2	1658	2	PRG4	1	186276487	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	19180091	186276487	62974134	5	30871											
ARID4B	51742	broad.mit.edu	37	chr1	235345238	235345244	+	Frame_Shift_Del	DEL	TCTTCAA	TCTTCAA	-													cattgacctctactgtttttTcttcaatgggtttactatcg							TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:235345238_235345244delTCTTCAA	ENST00000264183.3	-	20	3487_3493	c.2990_2996delTTGAAGA	c.(2989-2997)attgaagaafs	p.IEE997fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	997					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTGTTTTTTCTTCAATGGGTTTACT	0.444																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2989-2997)aafs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345238_235345244delTCTTCAA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2990_2996delTTGAAGA	1.37:g.235345238_235345244delTCTTCAA	ENSP00000264183:p.Ile997fs					ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs	p.IEE997fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3487_3493	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	997					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2990_2996delTTGAAGA	CCDS31061.1																																																																																				0.444	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		53	84						53	84	---	---	---	---	-	235345244	TCTTCAA	-	235345238	7	5	304	1	0	1	0	1	0	0	0	0	920	1783	62	0	962	0	ARID4B	1	235345238	Frame_Shift_Del	DEL	TCTTCAA	TCGA-HT-8109-01A-11D-2395-08	49068751	235345238	13905383	6	30872											
OR13G1	441933	broad.mit.edu	37	chr1	247835570	247835570	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtatagctggaagcaggGcggatataggtgtagattac	14	4	0	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:247835570G>T	ENST00000359688.2	-	1	795	c.774C>A	c.(772-774)cgC>cgA	p.R258R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258						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(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGAAGCAGGGCGGATATAGG	0.463																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(772-774)cgC>cgA		olfactory receptor, family 13, subfamily G, member 1							137	124	129					1																	247835570		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835570G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.774C>A	1.37:g.247835570G>T						RP11-634B7.4_ENST00000449298.1_RNA	p.R258R	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	795	-	all_cancers(71;3.24e-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)		258					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.774C>A	CCDS31094.1																																																																																				0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		26	145	1	0	1.75199e-13	1	1.85504e-13	26	145					T	247835570	G	T	247835570	2	4	304	1	0	0	0	0	0	0	0	1	10942	1190	42	4		4	OR13G1	1	247835570	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	12490332	247835570	1415051	7	30873											
CYP26B1	56603	broad.mit.edu	37	chr2	72362274	72362274	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccctgggtgctcaccCgccggtagccactgaagggc	14	16	1	1	rs267599444		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:72362274C>T	ENST00000001146.2	-	3	907	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	CYP26B1_ENST00000412253.1_Splice_Site_p.R44Q|CYP26B1_ENST00000546307.1_Splice_Site_p.R160Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	235					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTCACCCGCCGGTAGCC	0.637																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.e3+1		cytochrome P450, family 26, subfamily B, polypeptide 1							34	38	36					2																	72362274		2203	4300	6503	SO:0001630	splice_region_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72362274C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.705+1G>A	2.37:g.72362274C>T						CYP26B1_ENST00000412253.1_Splice_Site_p.R44_splice|CYP26B1_ENST00000546307.1_Splice_Site_p.R160_splice	p.R235_splice	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			3	907	-			235					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Splice_Site	SNP	ENST00000001146.2	37	c.705_splice	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845697	0.91197	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.03	5.03	0.67393	.	0.052058	0.64402	D	0.000001	T	0.72236	0.3435	L	0.49513	1.565	0.42316	D	0.992237	D;P;P	0.57899	0.981;0.884;0.782	P;P;P	0.53490	0.727;0.603;0.523	T	0.74153	-0.3757	10	0.49607	T	0.09	-11.2762	17.3091	0.87204	0.0:1.0:0.0:0.0	.	160;218;235	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	Q	235;44;160;160	ENSP00000001146:R235Q;ENSP00000401465:R44Q;ENSP00000443304:R160Q;ENSP00000430888:R160Q	ENSP00000001146:R235Q	R	-	2	0	CYP26B1	72215782	0.996000	0.38824	0.992000	0.48379	0.865000	0.49528	2.511000	0.45476	2.504000	0.84457	0.655000	0.94253	CGG		0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	Missense_Mutation	4	55	0	0	0	1	0	4	55					T	72362274	C	T	72362274	5	4	304	1	0	0	0	0	0	0	1	0	4156	666	23	1	850	1	CYP26B1	2	72362274	Splice_Site	SNP	C	TCGA-HT-8109-01A-11D-2395-08		72362274	170837099	8	30874											
FBLN7	129804	broad.mit.edu	37	chr2	112944825	112944825	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaagacgcccatcacgctCttccgcatggccacagcctc	8	18	2	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:112944825C>T	ENST00000331203.2	+	8	1333	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FBLN7_ENST00000409667.3_Silent_p.L220L|FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	354					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATCACGCTCTTCCGCATGG	0.647																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1060-1062)ctC>ctT		fibulin 7							87	90	89					2																	112944825		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944825C>T		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"Fibulins"	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1062C>T	2.37:g.112944825C>T						FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409667.3_Silent_p.L220L|FBLN7_ENST00000409903.1_Intron	p.L354L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			8	1333	+			354					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1062C>T	CCDS2095.1																																																																																				0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		15	176	0	0	0	1	0	15	176					T	112944825	C	T	112944825	2	4	304	1	0	0	0	0	0	0	0	1	5701	900	32	2		2	FBLN7	2	112944825	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	40582551	112944825	130254548	9	30875											
ZNF804A	91752	broad.mit.edu	37	chr2	185802239	185802239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaatggacaatcaaatGcaacaatgatacattctggg	7	6	2	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:185802239G>A	ENST00000302277.6	+	4	2710	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	706							metal ion binding (GO:0046872)			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						ACAATCAAATGCAACAATGAT	0.308																																						ENST00000302277.6																			0				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						c.(2116-2118)Gca>Aca		zinc finger protein 804A							71	65	67					2																	185802239		2198	4292	6490	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802239G>A	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.2116G>A	2.37:g.185802239G>A	ENSP00000303252:p.Ala706Thr						p.A706T	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2710	+			706					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2116G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078721	0.36662	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	5.78	0.841	0.18918	.	0.994182	0.08159	N	0.988731	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.46582	-0.9181	10	0.37606	T	0.19	-0.2926	6.3983	0.21624	0.0:0.411:0.3745:0.2145	.	706	Q7Z570	Z804A_HUMAN	T	706	ENSP00000303252:A706T	ENSP00000303252:A706T	A	+	1	0	ZNF804A	185510484	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-0.101000	0.10973	-0.126000	0.11682	-0.757000	0.03467	GCA		0.308	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		4	98	0	0	0	1	0	4	98					A	185802239	G	A	185802239	3	1	304	1	0	0	0	0	1	0	0	0	18167	1319	46	2	2130	2	ZNF804A	2	185802239	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	72857414	185802239	57397134	10	30876											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	74	0	0	0	1	0	26	74					T	209113112	C	T	209113112	3	4	304	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23310873	209113112	34086261	11	30877											
ACCN5	51802	broad.mit.edu	37	chr4	156764859	156764859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggatggttacccttgCgtgcattcccacaggtgaca	12	11	0	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr4:156764859C>T	ENST00000537611.2	-	5	881	c.835G>A	c.(835-837)Gca>Aca	p.A279T		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	279					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GTTACCCTTGCGTGCATTCCC	0.448																																						ENST00000537611.2																			0											c.(835-837)Gca>Aca		acid-sensing (proton-gated) ion channel family member 5							156	131	139					4																	156764859		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156764859C>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"amiloride-sensitive cation channel 5, intestinal"	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.835G>A	4.37:g.156764859C>T	ENSP00000442477:p.Ala279Thr						p.A279T	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			5	881	-			279						Missense_Mutation	SNP	ENST00000537611.2	37	c.835G>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	4.481	0.089072	0.08583	.	.	ENSG00000256394	ENST00000537611	T	0.58940	0.3	4.4	-1.76	0.08006	.	0.582071	0.16428	N	0.214858	T	0.35248	0.0925	L	0.28344	0.845	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.33954	-0.9848	10	0.02654	T	1	-0.0696	11.6158	0.51090	0.0:0.6517:0.0:0.3483	.	279	Q9NY37	ACCN5_HUMAN	T	279	ENSP00000442477:A279T	ENSP00000264432:A279T	A	-	1	0	ACCN5	156984309	0.001000	0.12720	0.002000	0.10522	0.186000	0.23388	-0.149000	0.10204	-0.588000	0.05882	-1.287000	0.01368	GCA		0.448	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			35	105	0	0	0	1	0	35	105					T	156764859	C	T	156764859	3	4	304	1	0	0	0	0	1	0	0	0	132	768	27	1	706	1	ACCN5	4	156764859	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		156764859	34389417	12	30878											
DNAH5	1767	broad.mit.edu	37	chr5	13919350	13919350	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatccgggcttttcaAttgttccaaaaggtagttaa	7	9	2	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:13919350A>G	ENST00000265104.4	-	7	1014	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	304	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)					GGGCTTTTCAATTGTTCCAAA	0.507									Kartagener syndrome																													ENST00000265104.4																			0				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						c.(910-912)Ttg>Ctg		dynein, axonemal, heavy chain 5							127	138	135					5																	13919350		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919350A>G	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.910T>C	5.37:g.13919350A>G							p.L304L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	1014	-	Lung NSC(4;0.00476)		304			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.910T>C	CCDS3882.1																																																																																				0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		28	218	0	0	0	1	0	28	218					G	13919350	A	G	13919350	2	3	304	1	0	0	0	0	0	0	0	1	4604	98	4	3		3	DNAH5	5	13919350	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		13919350	166995910	13	30879											
CWC27	10283	broad.mit.edu	37	chr5	64096085	64096085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgcagagcatgaaggGcaaaagcaaaagtagtcatg	11	6	2	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:64096085G>A	ENST00000381070.3	+	8	897	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CWC27_ENST00000508024.1_Missense_Mutation_p.G227D	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	227					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCATGAAGGGCAAAAGCAAA	0.358																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(679-681)gGc>gAc		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							180	168	172					5																	64096085		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64096085G>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.680G>A	5.37:g.64096085G>A	ENSP00000370460:p.Gly227Asp					CWC27_ENST00000381070.3_Missense_Mutation_p.G227D	p.G227D			Q6UX04	CWC27_HUMAN			8	881	+			227					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.680G>A	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165385	0.57476	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.55930	0.49;0.49	5.55	5.55	0.83447	.	0.101488	0.64402	D	0.000002	T	0.59918	0.2229	M	0.63169	1.94	0.54753	D	0.999987	P;B;P;P	0.45396	0.512;0.186;0.55;0.857	B;B;P;P	0.49047	0.394;0.12;0.599;0.558	T	0.56135	-0.8029	10	0.30078	T	0.28	.	16.4876	0.84189	0.0:0.0:1.0:0.0	.	227;227;227;227	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	D	227	ENSP00000370460:G227D;ENSP00000426802:G227D	ENSP00000370460:G227D	G	+	2	0	CWC27	64131841	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	6.798000	0.75155	2.622000	0.88805	0.558000	0.71614	GGC		0.358	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		4	94	0	0	0	1	0	4	94					A	64096085	G	A	64096085	3	1	304	1	0	0	0	0	1	0	0	0	4070	1203	42	2	710	2	CWC27	5	64096085	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	50176735	64096085	116819175	14	30880											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81608458	81608458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaattacaacaagttgTccatccagagttggtttagt	7	8	0	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:81608458T>G	ENST00000380167.4	+	9	1485	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	54					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						CAACAAGTTGTCCATCCAGAG	0.413											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(160-162)Tcc>Gcc		ATPase, H+ transporting, lysosomal accessory protein 1-like							178	173	175					5																	81608458		2203	4300	6503	SO:0001583	missense	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608458T>G	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.160T>G	5.37:g.81608458T>G	ENSP00000369513:p.Ser54Ala		OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A	p.S54A			Q52LC2	VAS1L_HUMAN			9	1485	+			54						Missense_Mutation	SNP	ENST00000380167.4	37	c.160T>G	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	T	7.732	0.699430	0.15106	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.58	-1.29	0.09288	.	0.517808	0.20520	N	0.090713	T	0.40619	0.1124	M	0.70903	2.155	0.23396	N	0.997761	B	0.17268	0.021	B	0.20184	0.028	T	0.37384	-0.9708	9	0.51188	T	0.08	.	5.8611	0.18747	0.0:0.1962:0.2255:0.5783	.	54	Q52LC2	VAS1L_HUMAN	A	54	.	ENSP00000369513:S54A	S	+	1	0	ATP6AP1L	81644214	0.997000	0.39634	0.020000	0.16555	0.038000	0.13279	0.589000	0.23939	-0.196000	0.10366	-0.290000	0.09829	TCC		0.413	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		17	213	0	0	0	1	0	17	213					G	81608458	T	G	81608458	3	3	304	1	0	0	0	0	1	0	0	0	1166	1667	58	5	170	5	ATP6AP1L	5	81608458	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	17512373	81608458	99306802	15	30881											
HTR4	3360	broad.mit.edu	37	chr5	147889456	147889456	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgtgacatagatgcgGtaataggccagcaccatgag	12	8	0	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:147889456G>T	ENST00000377888.3	-	6	777	c.639C>A	c.(637-639)taC>taA	p.Y213*	HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000360693.3_Nonsense_Mutation_p.Y213*	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	213					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)	CATAGATGCGGTAATAGGCCA	0.542																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(637-639)taC>taA		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						104	89	94					5																	147889456		2203	4300	6503	SO:0001587	stop_gained	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889456G>T	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.639C>A	5.37:g.147889456G>T	ENSP00000367120:p.Tyr213*					HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000377888.3_Nonsense_Mutation_p.Y213*	p.Y213*	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	777	-			213					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Nonsense_Mutation	SNP	ENST00000377888.3	37	c.639C>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547576	0.13312	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	.	.	.	6.02	-3.32	0.04973	.	0.104499	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2689	0.66140	0.4032:0.0:0.5968:0.0	.	.	.	.	X	213;213;213;213;213;213;213;213;227	.	ENSP00000314906:Y213X	Y	-	3	2	HTR4	147869649	0.853000	0.29707	0.979000	0.43373	0.004000	0.04260	0.069000	0.14552	-0.457000	0.07033	-0.136000	0.14681	TAC		0.542	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		23	38	1	0	2.89027e-11	1	3.01593e-11	23	38					T	147889456	G	T	147889456	4	4	304	1	0	0	0	0	0	1	0	0	7449	1256	44	4	831	4	HTR4	5	147889456	Nonsense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	66280998	147889456	33025804	16	30882											
ODZ2	57451	broad.mit.edu	37	chr5	167674102	167674102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcttgaagatggtcaAcctccaaagtgggggcttct	13	8	3	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:167674102A>G	ENST00000518659.1	+	27	6197	c.6158A>G	c.(6157-6159)aAc>aGc	p.N2053S	TENM2_ENST00000520394.1_Missense_Mutation_p.N1814S|TENM2_ENST00000519204.1_Missense_Mutation_p.N1932S|TENM2_ENST00000545108.1_Missense_Mutation_p.N2052S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1877S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2053					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)										AAGATGGTCAACCTCCAAAGT	0.522																																						ENST00000519204.1																			0											c.(5794-5796)aAc>aGc		teneurin transmembrane protein 2							80	79	80					5																	167674102		1943	4144	6087	SO:0001583	missense	57451							g.chr5:167674102A>G	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.6158A>G	5.37:g.167674102A>G	ENSP00000429430:p.Asn2053Ser					TENM2_ENST00000518659.1_Missense_Mutation_p.N2053S|TENM2_ENST00000545108.1_Missense_Mutation_p.N2052S|TENM2_ENST00000520394.1_Missense_Mutation_p.N1814S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1877S	p.N1932S							26	5913	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5795A>G		.	.	.	.	.	.	.	.	.	.	A	16.01	3.002530	0.54254	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89270	-2.02;-2.01;-2.12;-2.45;-2.49	5.44	3.02	0.34903	.	0.039655	0.85682	N	0.000000	D	0.92688	0.7676	M	0.80028	2.48	0.40758	D	0.982977	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.999;0.997;0.979	D	0.89580	0.3820	10	0.18276	T	0.48	.	9.4562	0.38756	0.8602:0.0:0.1398:0.0	.	2052;2053;1814	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	2053;2052;1932;1814;1877	ENSP00000429430:N2053S;ENSP00000438635:N2052S;ENSP00000428964:N1932S;ENSP00000427874:N1814S;ENSP00000384905:N1877S	ENSP00000384905:N1877S	N	+	2	0	ODZ2	167606680	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.846000	0.55888	0.360000	0.24265	0.459000	0.35465	AAC		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		61	119	0	0	0	1	0	61	119					G	167674102	A	G	167674102	3	3	304	1	0	0	0	0	1	0	0	0	10835	43	2	3	6237	3	ODZ2	5	167674102	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	19784646	167674102	13241158	17	30883											
C6orf10	10665	broad.mit.edu	37	chr6	32261116	32261116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtacacctgcctcactcTtcttttcttggacctcttgt	5	14	6	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:32261116T>G	ENST00000447241.2	-	23	1506	c.1334A>C	c.(1333-1335)aAg>aCg	p.K445T	C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000375015.4_Missense_Mutation_p.K444T|C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	445						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						TGCCTCACTCTTCTTTTCTTG	0.458																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1330-1332)aAg>aCg		chromosome 6 open reading frame 10							248	278	268					6																	32261116		1511	2707	4218	SO:0001583	missense	10665					integral to membrane		g.chr6:32261116T>G	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.1334A>C	6.37:g.32261116T>G	ENSP00000415517:p.Lys445Thr					C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K445T|C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T	p.K444T			Q5SRN2	CF010_HUMAN			26	1531	-			445					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1331A>C	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490621	0.44249	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04194	3.76;3.7;3.71;3.68;3.71;3.7	3.92	-2.06	0.07298	.	.	.	.	.	T	0.05090	0.0136	M	0.67397	2.05	0.09310	N	1	B;D	0.89917	0.395;1.0	B;D	0.87578	0.047;0.998	T	0.20207	-1.0282	9	0.46703	T	0.11	-2.5319	0.8613	0.01194	0.1649:0.3006:0.1698:0.3647	.	445;436	Q5SRN2;C9J9T8	CF010_HUMAN;.	T	436;445;444;443;429;443;442;442	ENSP00000411164:K436T;ENSP00000415517:K445T;ENSP00000364155:K444T;ENSP00000431199:K443T;ENSP00000435103:K429T;ENSP00000364146:K443T	ENSP00000303292:K442T	K	-	2	0	C6orf10	32369094	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.064000	0.14437	-0.450000	0.07107	0.454000	0.30748	AAG		0.458	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		27	345	0	0	0	1	0	27	345					G	32261116	T	G	32261116	3	3	304	1	0	0	0	0	1	0	0	0	2317	1609	56	5	361	5	C6orf10	6	32261116	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08		32261116	138853951	18	30884											
FAM83B	222584	broad.mit.edu	37	chr6	54735129	54735129	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactacaaggaatggtatCgagtagccattgatattctg	9	8	2	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:54735129C>T	ENST00000306858.7	+	2	201	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	29										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAATGGTATCGAGTAGCCAT	0.403																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(85-87)Cga>Tga		family with sequence similarity 83, member B							137	126	129					6																	54735129		2203	4300	6503	SO:0001587	stop_gained	222584							g.chr6:54735129C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.85C>T	6.37:g.54735129C>T	ENSP00000304078:p.Arg29*						p.R29*	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	201	+	Lung NSC(77;0.0178)|Renal(3;0.122)		29					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.85C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365651	0.97507	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.776	14.5555	0.68097	0.1469:0.8531:0.0:0.0	.	.	.	.	X	29	.	ENSP00000304078:R29X	R	+	1	2	FAM83B	54843088	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.614000	0.61183	2.525000	0.85131	0.467000	0.42956	CGA		0.403	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		55	141	0	0	0	1	0	55	141					T	54735129	C	T	54735129	4	4	304	1	0	0	0	0	0	1	0	0	5634	876	31	1	87	1	FAM83B	6	54735129	Nonsense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	22474013	54735129	116379938	19	30885											
TACC1	6867	broad.mit.edu	37	chr8	38678119	38678119	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atcacgttaatgaaatcttaGaatcacccaagaaggcaaag	7	8	3	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:38678119G>C	ENST00000317827.4	+	3	1736	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000379931.3_Missense_Mutation_p.E453Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000330691.6_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	453	SPAZ 2.				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)			TGAAATCTTAGAATCACCCAA	0.453																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1357-1359)Gaa>Caa		transforming, acidic coiled-coil containing protein 1							133	144	140					8																	38678119		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38678119G>C	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.1357G>C	8.37:g.38678119G>C	ENSP00000321703:p.Glu453Gln					TACC1_ENST00000317827.4_Missense_Mutation_p.E453Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520611.1_5'UTR	p.E453Q			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1736	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	453			SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.1357G>C	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.446301|3.446301	0.63178|0.63178	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T|.	0.10192|.	2.93;2.93;3.04;3.05;2.91;3.08;3.02;2.9|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.366777|.	0.28665|.	N|.	0.014559|.	T|.	0.63355|.	0.2504|.	L|L	0.56769|0.56769	1.78|1.78	0.30873|0.30873	N|N	0.732218|0.732218	P;B;B;P;D;B;P;B|.	0.63046|.	0.948;0.046;0.046;0.935;0.992;0.124;0.951;0.08|.	P;B;B;B;P;B;P;B|.	0.58660|.	0.628;0.008;0.008;0.398;0.843;0.051;0.503;0.047|.	T|.	0.63625|.	-0.6595|.	10|.	0.21014|.	T|.	0.42|.	-5.1624|-5.1624	17.9839|17.9839	0.89150|0.89150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258;258;258;469;453;453;258;408|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	Q|Y	258;258;258;469;408;425;453;453;258|227;90	ENSP00000428687:E258Q;ENSP00000428450:E258Q;ENSP00000393647:E469Q;ENSP00000428706:E408Q;ENSP00000430355:E425Q;ENSP00000321703:E453Q;ENSP00000369263:E453Q;ENSP00000430959:E258Q|.	ENSP00000321703:E453Q|.	E|X	+|+	1|3	0|2	TACC1|TACC1	38797276|38797276	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.421000|0.421000	0.31385|0.31385	6.485000|6.485000	0.73625|0.73625	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	GAA|TAG		0.453	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		104	212	0	0	0	1	0	104	212					C	38678119	G	C	38678119	3	2	304	1	0	0	0	0	1	0	0	0	15498	943	33	4	1367	4	TACC1	8	38678119	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		38678119	107685903	20	30886											
KIF24	347240	broad.mit.edu	37	chr9	34257924	34257924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggagtttccagatgtccGatttcgactggtaactgaag	12	7	0	3	rs144983593		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:34257924G>A	ENST00000402558.2	-	10	1705	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	KIF24_ENST00000345050.2_Missense_Mutation_p.R427W|KIF24_ENST00000379166.2_Missense_Mutation_p.R561W|KIF24_ENST00000379174.3_Missense_Mutation_p.R427W			Q5T7B8	KIF24_HUMAN	kinesin family member 24	561					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGATGTCCGATTTCGACTG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		19997	0.0		0.0	False		,,,				2504	0.001					ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1681-1683)Cgg>Tgg		kinesin family member 24							121	131	128					9																	34257924		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257924G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1681C>T	9.37:g.34257924G>A	ENSP00000384433:p.Arg561Trp					KIF24_ENST00000379174.3_Missense_Mutation_p.R427W|KIF24_ENST00000402558.2_Missense_Mutation_p.R561W|KIF24_ENST00000345050.2_Missense_Mutation_p.R427W	p.R561W	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	1800	-			561					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.1681C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244799	0.59103	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.73575	-0.54;-0.76;-0.54;-0.76	5.53	4.62	0.57501	.	0.454742	0.16183	N	0.225744	T	0.77765	0.4179	M	0.67953	2.075	0.21416	N	0.999692	D	0.76494	0.999	P	0.47528	0.549	T	0.71609	-0.4541	10	0.66056	D	0.02	.	15.5999	0.76616	0.0:0.0:0.8611:0.1389	.	561	Q5T7B8	KIF24_HUMAN	W	561;427;561;427;561	ENSP00000384433:R561W;ENSP00000368472:R427W;ENSP00000368464:R561W;ENSP00000340179:R427W	ENSP00000340179:R427W	R	-	1	2	KIF24	34247924	0.967000	0.33354	0.513000	0.27749	0.516000	0.34256	3.145000	0.50623	1.299000	0.44798	0.655000	0.94253	CGG		0.398	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			112	56	0	0	0	1	0	112	56					A	34257924	G	A	34257924	3	1	304	1	0	0	0	0	1	0	0	0	8292	1057	37	1	2437	1	KIF24	9	34257924	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		34257924	106955507	21	30887											
FAM120A	23196	broad.mit.edu	37	chr9	96324505	96324505	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaggcgtccaagaggagtTatttccaccccagtgattag	10	9	0	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:96324505T>A	ENST00000277165.6	+	17	3158	c.2964T>A	c.(2962-2964)gtT>gtA	p.V988V	FAM120A_ENST00000333936.5_Silent_p.V1016V|FAM120A_ENST00000340893.4_Silent_p.V942V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	988	RNA binding.					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						CAAGAGGAGTTATTTCCACCC	0.368																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2962-2964)gtT>gtA		family with sequence similarity 120A							159	138	145					9																	96324505		2203	4300	6503	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96324505T>A	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.2964T>A	9.37:g.96324505T>A						FAM120A_ENST00000340893.4_Silent_p.V942V|FAM120A_ENST00000333936.5_Silent_p.V1016V	p.V988V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			17	3158	+			988			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.2964T>A	CCDS6706.1																																																																																				0.368	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		18	46	0	0	0	1	0	18	46					A	96324505	T	A	96324505	2	1	304	1	0	0	0	0	0	0	0	1	5415	1741	61	5		5	FAM120A	9	96324505	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	62066581	96324505	44888926	22	30888											
GBGT1	26301	broad.mit.edu	37	chr9	136029281	136029281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtggaaacacgcctgcGctcataggggaactgctggc	15	11	1	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:136029281G>A	ENST00000372040.3	-	7	1038	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	243					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACACGCCTGCGCTCATAGGGG	0.602																																						ENST00000372040.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(727-729)Cgc>Tgc		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							79	80	80					9																	136029281		2203	4300	6503	SO:0001583	missense	26301							g.chr9:136029281G>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.727C>T	9.37:g.136029281G>A	ENSP00000361110:p.Arg243Cys					GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C	p.R243C						OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1038	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.727C>T	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469318	0.63625	.	.	ENSG00000148288	ENST00000372040;ENST00000540636	T;T	0.02421	4.3;4.3	5.25	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	M	0.92604	3.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07158	-1.0787	10	0.87932	D	0	-12.131	13.9166	0.63902	0.0:0.0:0.779:0.221	.	226;243	B7Z8S5;Q8N5D6	.;GBGT1_HUMAN	C	243;226	ENSP00000361110:R243C;ENSP00000437663:R226C	ENSP00000361110:R243C	R	-	1	0	GBGT1	135019102	0.311000	0.24536	0.999000	0.59377	0.880000	0.50808	1.623000	0.37008	2.451000	0.82905	0.561000	0.74099	CGC		0.602	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		44	97	0	0	0	1	0	44	97					A	136029281	G	A	136029281	3	1	304	1	0	0	0	0	1	0	0	0	6272	1087	38	1	320	1	GBGT1	9	136029281	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	39704776	136029281	5184150	23	30889											
OGDHL	55753	broad.mit.edu	37	chr10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatctcattgtggccacgcCggcggtaacagacctgcagg	12	14	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:50953529C>T	ENST00000374103.4	-	12	1575	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	497					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						GTGGCCACGCCGGCGGTAACA	0.572																																						ENST00000374103.4																			0				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						c.(1489-1491)cGg>cAg		oxoglutarate dehydrogenase-like							77	72	74					10																	50953529		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953529C>T	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.1490G>A	10.37:g.50953529C>T	ENSP00000363216:p.Arg497Gln					OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q	p.R497Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			12	1575	-			497					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1490G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282234	0.95489	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95885	2.48;2.48;-3.84	5.3	5.3	0.74995	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	M	0.93328	3.405	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.71870	0.957;0.931;0.975	D	0.98705	1.0702	10	0.87932	D	0	.	13.6167	0.62112	0.0:0.9252:0.0:0.0748	.	440;288;497	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	497;440;288	ENSP00000363216:R497Q;ENSP00000401356:R440Q;ENSP00000390240:R288Q	ENSP00000363216:R497Q	R	-	2	0	OGDHL	50623535	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.004000	0.70709	2.647000	0.89833	0.650000	0.86243	CGG		0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		26	73	0	0	0	1	0	26	73					T	50953529	C	T	50953529	3	4	304	1	0	0	0	0	1	0	0	0	10840	652	23	1	1590	1	OGDHL	10	50953529	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		50953529	84581218	24	30890											
ADK	132	broad.mit.edu	37	chr10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagggagagatgacactAtaatggctacaggtacatgt	11	8	0	2	rs541758866		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:76360239A>G	ENST00000286621.2	+	9	915	c.865A>G	c.(865-867)Ata>Gta	p.I289V	ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V|ADK_ENST00000372734.3_Missense_Mutation_p.I272V	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	289				I -> N (in Ref. 1; AA sequence). {ECO:0000305}.	adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													A|||	1	0.000199681	0.0008	0.0	5008	,	,		10929	0.0		0.0	False		,,,				2504	0.0					ENST00000372734.3																			0				breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(814-816)Ata>Gta		adenosine kinase	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)						70	58	62					10																	76360239		2203	4300	6503	SO:0001583	missense	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:76360239A>G	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"adenosine 5'-phosphotransferase"	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.865A>G	10.37:g.76360239A>G	ENSP00000286621:p.Ile289Val					ADK_ENST00000286621.2_Missense_Mutation_p.I289V|ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V	p.I272V	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN			9	1001	+	Prostate(51;0.0112)|Ovarian(15;0.148)		289					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	37	c.814A>G	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	A	0.962	-0.702964	0.03255	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	D;T;T;T	0.88046	-2.33;-1.06;-1.06;-1.06	5.48	1.98	0.26296	Carbohydrate/purine kinase (1);	0.285757	0.38778	N	0.001561	T	0.71341	0.3328	N	0.16833	0.445	0.34041	D	0.655018	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.11329	0.003;0.006;0.003;0.004	T	0.62120	-0.6921	10	0.06365	T	0.9	-6.3834	8.6521	0.34040	0.6935:0.0:0.3065:0.0	.	254;232;272;289	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	V	232;289;272;254	ENSP00000443965:I232V;ENSP00000286621:I289V;ENSP00000361819:I272V;ENSP00000438321:I254V	ENSP00000286621:I289V	I	+	1	0	ADK	76030245	0.412000	0.25392	0.481000	0.27354	0.992000	0.81027	0.894000	0.28350	0.392000	0.25172	0.460000	0.39030	ATA		0.348	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		7	33	0	0	0	1	0	7	33					G	76360239	A	G	76360239	3	3	304	1	0	0	0	0	1	0	0	0	320	449	16	3	917	3	ADK	10	76360239	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	25406710	76360239	59174508	25	30891											
GPR120	338557	broad.mit.edu	37	chr10	95326548	95326548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagccaaccgcacccGctttcccttcttctccgacg	8	18	2	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:95326548G>T	ENST00000371483.4	+	1	127	c.71G>T	c.(70-72)cGc>cTc	p.R24L	FFAR4_ENST00000371481.4_Missense_Mutation_p.R24L|FFAR4_ENST00000604414.1_Missense_Mutation_p.R24L	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	24					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										AACCGCACCCGCTTTCCCTTC	0.701																																						ENST00000371483.4																			0											c.(70-72)cGc>cTc		free fatty acid receptor 4							20	18	18					10																	95326548		2196	4297	6493	SO:0001583	missense	338557							g.chr10:95326548G>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"GPCR / Class A : Fatty acid receptors"	19061	protein-coding gene	gene with protein product		609044	"G protein-coupled receptor 129", "G protein-coupled receptor 120", "omega-3 fatty acid receptor 1"	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.71G>T	10.37:g.95326548G>T	ENSP00000360538:p.Arg24Leu					FFAR4_ENST00000604414.1_Missense_Mutation_p.R24L|FFAR4_ENST00000371481.4_Missense_Mutation_p.R24L	p.R24L	NM_181745.3	NP_859529.2					1	127	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.71G>T	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.923019	0.18056	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.35236	1.32;1.32	5.22	2.84	0.33178	.	0.275476	0.31685	N	0.007232	T	0.18173	0.0436	L	0.27053	0.805	0.27748	N	0.94425	B;B	0.12630	0.001;0.006	B;B	0.10450	0.005;0.004	T	0.12915	-1.0529	10	0.12103	T	0.63	-19.4569	2.8994	0.05700	0.3087:0.0:0.3718:0.3195	.	24;24	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	L	24	ENSP00000360536:R24L;ENSP00000360538:R24L	ENSP00000360536:R24L	R	+	2	0	O3FAR1	95316538	.	.	1.000000	0.80357	0.801000	0.45260	.	.	1.088000	0.41272	0.561000	0.74099	CGC		0.701	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		6	33	1	0	3.59834e-05	1	3.59834e-05	6	33					T	95326548	G	T	95326548	3	4	304	1	0	0	0	0	1	0	0	0	6636	1087	38	4	73	4	GPR120	10	95326548	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	18966309	95326548	40208199	26	30892											
LOXL4	84171	broad.mit.edu	37	chr10	100013489	100013489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaatacagctggctgagCgggcggtcctccaagtaggc	14	12	0	1	rs376068066		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:100013489C>T	ENST00000260702.3	-	11	1806	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	552	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCTGGCTGAGCGGGCGGTCCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17484	0.0		0.0	False		,,,				2504	0.001					ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1654-1656)ccG>ccA		lysyl oxidase-like 4		C		0,4406		0,0,2203	80	76	77		1656	-4.1	0.9	10		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LOXL4	NM_032211.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		552/757	100013489	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100013489C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1656G>A	10.37:g.100013489C>T						RP11-34A14.3_ENST00000433374.1_RNA	p.P552P	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	11	1806	-		Colorectal(252;0.234)	552			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	c.1656G>A	CCDS7473.1																																																																																				0.627	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		23	49	0	0	0	1	0	23	49					T	100013489	C	T	100013489	2	4	304	1	0	0	0	0	0	0	0	1	8902	755	27	1		1	LOXL4	10	100013489	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	4686941	100013489	35521258	27	30893											
ADRBK1	156	broad.mit.edu	37	chr11	67046685	67046685	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcagggtacctgctcttcCgagacttctgcctgaaccac	8	15	3	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr11:67046685C>G	ENST00000308595.5	+	3	495	c.205C>G	c.(205-207)Cga>Gga	p.R69G	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	69	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)	p.R69R(1)		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)	CCTGCTCTTCCGAGACTTCTG	0.592																																						ENST00000308595.5																			1	Substitution - coding silent(1)	p.R69R(1)	lung(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(205-207)Cga>Gga		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						96	88	91					11																	67046685		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67046685C>G	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.205C>G	11.37:g.67046685C>G	ENSP00000312262:p.Arg69Gly					ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G	p.R69G	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	495	+			69			N-terminal.|RGS.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.205C>G	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617891	0.66787	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.02498	4.27;4.27	4.5	3.52	0.40303	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.44285	D	0.000474	T	0.03695	0.0105	L	0.34521	1.04	0.42422	D	0.99264	P;P	0.43633	0.813;0.653	B;B	0.42798	0.349;0.398	T	0.51787	-0.8661	10	0.72032	D	0.01	-12.0751	12.9449	0.58367	0.1611:0.8389:0.0:0.0	.	69;69	P25098;E9PRV7	ARBK1_HUMAN;.	G	69	ENSP00000312262:R69G;ENSP00000434126:R69G	ENSP00000312262:R69G	R	+	1	2	ADRBK1	66803261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.656000	0.37355	2.504000	0.84457	0.655000	0.94253	CGA		0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		6	71	0	0	0	1	0	6	71					G	67046685	C	G	67046685	3	3	304	1	0	0	0	0	1	0	0	0	343	644	23	4	215	4	ADRBK1	11	67046685	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		67046685	67959831	28	30894											
TAPBPL	55080	broad.mit.edu	37	chr12	6567822	6567822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctccagcttcccctaaaGtacgactgagcttggcaaac	7	13	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:6567822G>A	ENST00000266556.7	+	5	1081	c.916G>A	c.(916-918)Gta>Ata	p.V306I	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	306	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TTCCCCTAAAGTACGACTGAG	0.522																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(916-918)Gta>Ata		TAP binding protein-like							125	116	119					12																	6567822		2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6567822G>A	AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.916G>A	12.37:g.6567822G>A	ENSP00000266556:p.Val306Ile					TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	p.V306I	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			5	1081	+			306			Ig-like C1-type.		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.916G>A	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153382	0.38021	.	.	ENSG00000139192	ENST00000266556	T	0.16597	2.33	5.05	2.96	0.34315	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.253646	0.39083	N	0.001461	T	0.23410	0.0566	M	0.86268	2.805	0.28738	N	0.902134	B	0.10296	0.003	B	0.14578	0.011	T	0.16778	-1.0391	10	0.54805	T	0.06	-5.7708	8.5151	0.33242	0.2037:0.0:0.7963:0.0	.	306	Q9BX59	TPSNR_HUMAN	I	306	ENSP00000266556:V306I	ENSP00000266556:V306I	V	+	1	0	TAPBPL	6438083	0.982000	0.34865	0.972000	0.41901	0.717000	0.41224	0.843000	0.27640	0.487000	0.27698	0.650000	0.86243	GTA		0.522	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		11	145	0	0	0	1	0	11	145					A	6567822	G	A	6567822	3	1	304	1	0	0	0	0	1	0	0	0	15550	1029	36	2	934	2	TAPBPL	12	6567822	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		6567822	127284073	29	30895											
ATF7IP	55729	broad.mit.edu	37	chr12	14634097	14634097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttatgcaggctcctgctgtTcggcaggtcaatccccaaaa	10	12	1	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:14634097T>C	ENST00000540793.1	+	12	3413	c.3258T>C	c.(3256-3258)gtT>gtC	p.V1086V	ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000261168.4_Silent_p.V1086V|ATF7IP_ENST00000544627.1_Silent_p.V1094V|ATF7IP_ENST00000536444.1_Silent_p.V1085V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1086					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCCTGCTGTTCGGCAGGTCA	0.453																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3280-3282)gtT>gtC		activating transcription factor 7 interacting protein							63	62	63					12																	14634097		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634097T>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3258T>C	12.37:g.14634097T>C						ATF7IP_ENST00000540793.1_Silent_p.V1086V|ATF7IP_ENST00000536444.1_Silent_p.V1085V|ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000261168.4_Silent_p.V1086V	p.V1094V			Q6VMQ6	MCAF1_HUMAN			13	3602	+			1086					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3282T>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306275	0.23736	.	.	ENSG00000171681	ENST00000535738	.	.	.	5.43	-1.77	0.07982	.	.	.	.	.	T	0.37128	0.0992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33085	-0.9882	4	.	.	.	-12.2358	0.0975	0.00045	0.2825:0.1706:0.2164:0.3305	.	.	.	.	P	100	.	.	S	+	1	0	ATF7IP	14525364	0.961000	0.32948	0.996000	0.52242	0.981000	0.71138	-0.133000	0.10451	0.045000	0.15804	0.528000	0.53228	TCG		0.453	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		7	132	0	0	0	1	0	7	132					C	14634097	T	C	14634097	2	2	304	1	0	0	0	0	0	0	0	1	1087	1770	62	3		3	ATF7IP	12	14634097	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	8066275	14634097	119217798	30	30896											
DDIT3	1649	broad.mit.edu	37	chr12	57911132	57911132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaggtcctcataccaggCttccagctcccagctggaca	9	15	1	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:57911132C>T	ENST00000346473.3	-	3	237	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T|DDIT3_ENST00000551116.1_Missense_Mutation_p.A43T|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	20	N-terminal.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|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 corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCATACCAGGCTTCCAGCTCC	0.493			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	ENST00000551116.1				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	0				central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(127-129)Gcc>Acc		DNA-damage-inducible transcript 3							64	58	60					12																	57911132		2203	4300	6503	SO:0001583	missense	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57911132C>T	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.58G>A	12.37:g.57911132C>T	ENSP00000340671:p.Ala20Thr					DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T|DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T|DDIT3_ENST00000346473.3_Missense_Mutation_p.A20T	p.A43T	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN			3	394	-			20					F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	c.127G>A	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570252	0.65765	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.55234	0.61;0.53;0.61;0.53	5.01	5.01	0.66863	.	0.120501	0.53938	D	0.000049	T	0.58119	0.2100	L	0.32530	0.975	0.38163	D	0.939105	D;P	0.76494	0.999;0.941	D;P	0.65323	0.934;0.527	T	0.62760	-0.6786	10	0.72032	D	0.01	-12.9575	11.1156	0.48258	0.2844:0.7156:0.0:0.0	.	43;20	F8VS99;P35638	.;DDIT3_HUMAN	T	20;43;20;43;43	ENSP00000447188:A20T;ENSP00000448665:A43T;ENSP00000340671:A20T;ENSP00000447803:A43T	ENSP00000340671:A20T	A	-	1	0	DDIT3	56197399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.038000	0.49783	2.776000	0.95493	0.655000	0.94253	GCC		0.493	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		22	39	0	0	0	1	0	22	39					T	57911132	C	T	57911132	3	4	304	1	0	0	0	0	1	0	0	0	4330	797	28	2	459	2	DDIT3	12	57911132	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	43277035	57911132	75940763	31	30897											
FLT3	2322	broad.mit.edu	37	chr13	28609684	28609684	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaagggaattgtatgcAcagcacttgaccaggaaccc	11	11	0	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28609684A>G	ENST00000241453.7	-	12	1626	c.1545T>C	c.(1543-1545)tgT>tgC	p.C515C	FLT3_ENST00000380982.4_Silent_p.C515C|FLT3_ENST00000537084.1_Silent_p.C515C	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	515					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTATGCACAGCACTTGA	0.438			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1543-1545)tgT>tgC		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						203	180	188					13																	28609684		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609684A>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1545T>C	13.37:g.28609684A>G						FLT3_ENST00000241453.7_Silent_p.C515C|FLT3_ENST00000537084.1_Silent_p.C515C	p.C515C			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1626	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	515					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1545T>C	CCDS31953.1																																																																																				0.438	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			18	153	0	0	0	1	0	18	153					G	28609684	A	G	28609684	2	3	304	1	0	0	0	0	0	0	0	1	5942	157	6	3		3	FLT3	13	28609684	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		28609684	86560194	32	30898											
FLT3	2322	broad.mit.edu	37	chr13	28611413	28611413	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtgcttatgattgcaAaacttggatatgctgtttga	12	5	0	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28611413A>G	ENST00000241453.7	-	10	1299	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	FLT3_ENST00000380982.4_Silent_p.F406F|FLT3_ENST00000537084.1_Silent_p.F406F	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	406					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGATTGCAAAACTTGGATA	0.378			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1216-1218)ttT>ttC		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						96	98	97					13																	28611413		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28611413A>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1218T>C	13.37:g.28611413A>G						FLT3_ENST00000241453.7_Silent_p.F406F|FLT3_ENST00000537084.1_Silent_p.F406F	p.F406F			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	10	1299	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	406					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1218T>C	CCDS31953.1																																																																																				0.378	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			9	75	0	0	0	1	0	9	75					G	28611413	A	G	28611413	2	3	304	1	0	0	0	0	0	0	0	1	5942	11	1	3		3	FLT3	13	28611413	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08	1729	28611413	86558465	33	30899											
SDR39U1	23351	broad.mit.edu	37	chr14	24909494	24909494	+	3'UTR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggtctgggcaaactcaGcattagtggcggaggatgga	15	8	2	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:24909494G>T	ENST00000251343.5	+	0	5179				SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D|SDR39U1_ENST00000554698.1_Missense_Mutation_p.A118D			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						GGCAAACTCAGCATTAGTGGC	0.617																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(352-354)gCt>gAt		short chain dehydrogenase/reductase family 39U, member 1							43	51	49					14																	24909494		2049	4202	6251	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909494G>T	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.*3003G>T	14.37:g.24909494G>T						KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D	p.A118D			Q9NRG7	D39U1_HUMAN			4	860	-			252					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.353C>A	CCDS32058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.373303|2.373303	0.42105|0.42105	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225;ENST00000555355;ENST00000556523|ENST00000556249	T;T;T;T;T;T;T;T;T;T|.	0.33865|.	2.12;1.82;1.82;1.81;1.84;1.86;1.83;1.44;1.39;1.41|.	4.71|4.71	3.77|3.77	0.43336|0.43336	NAD(P)-binding domain (1);|.	0.540943|.	0.19594|.	N|.	0.110542|.	T|T	0.60907|0.60907	0.2305|0.2305	M|M	0.68728|0.68728	2.09|2.09	0.32100|0.32100	N|N	0.590771|0.590771	P;P;P;P;B|.	0.46327|.	0.876;0.646;0.67;0.7;0.415|.	P;B;B;B;B|.	0.49301|.	0.606;0.144;0.299;0.207;0.194|.	T|T	0.66520|0.66520	-0.5903|-0.5903	10|5	0.14656|.	T|.	0.56|.	-2.858|-2.858	11.5707|11.5707	0.50832|0.50832	0.0:0.3179:0.6821:0.0|0.0:0.3179:0.6821:0.0	.|.	101;226;252;144;118|.	G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5|.	.;.;D39U1_HUMAN;.;.|.	D|M	226;252;131;101;144;118;59;120;59;101;59|149	ENSP00000382327:A226D;ENSP00000382322:A131D;ENSP00000452499:A101D;ENSP00000446077:A144D;ENSP00000452438:A118D;ENSP00000451903:A59D;ENSP00000452076:A120D;ENSP00000451593:A59D;ENSP00000450946:A101D;ENSP00000451275:A59D|.	ENSP00000336854:A252D|.	A|L	-|-	2|1	0|2	SDR39U1|SDR39U1	23979334|23979334	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	1.900000|1.900000	0.39828|0.39828	2.440000|2.440000	0.82611|0.82611	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.617	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			21	37	1	0	4.96729e-08	1	5.03725e-08	21	37					T	24909494	G	T	24909494	1	4	304	0	1	0	0	0	0	0	0	0	13972	971	34	4		4	SDR39U1	14	24909494	3'UTR	SNP	G	TCGA-HT-8109-01A-11D-2395-08		24909494	82440046	34	30900											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					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						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	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.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	238						7	238	---	---	---	---	-	95921890	CTC	-	95921888	7	5	304	1	0	1	0	1	0	0	0	0	1776	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-HT-8109-01A-11D-2395-08	71012394	95921888	11427652	35	30901											
DUOX2	50506	broad.mit.edu	37	chr15	45398797	45398797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtagcttcttgtgttctCggccccggaaataggccacc	10	12	2	0	rs373620034		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:45398797C>T	ENST00000603300.1	-	16	2076	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R625Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	625					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)		CTTGTGTTCTCGGCCCCGGAA	0.557																																						ENST00000389039.6																			0				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						c.(1873-1875)cGa>cAa		dual oxidase 2		C	GLN/ARG	0,4396		0,0,2198	154	150	151		1874	-1	1	15		151	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOX2	NM_014080.4	43	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	625/1549	45398797	1,12991	2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45398797C>T	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.1874G>A	15.37:g.45398797C>T	ENSP00000475084:p.Arg625Gln					DUOX2_ENST00000603300.1_Missense_Mutation_p.R625Q	p.R625Q			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	16	2259	-		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)	625					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1874G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357373	0.41801	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.42	-1.02	0.10135	.	0.584816	0.18081	N	0.152290	T	0.49287	0.1548	M	0.72894	2.215	0.40470	D	0.980336	B;B	0.31931	0.188;0.347	B;B	0.24701	0.023;0.055	T	0.44467	-0.9326	9	0.42905	T	0.14	-3.1592	9.9682	0.41738	0.0:0.6012:0.0:0.3988	.	625;187	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	625	.	ENSP00000373691:R625Q	R	-	2	0	DUOX2	43186089	0.024000	0.19004	0.990000	0.47175	0.648000	0.38561	-0.235000	0.09016	-0.185000	0.10550	0.455000	0.32223	CGA		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		31	165	0	0	0	1	0	31	165					T	45398797	C	T	45398797	3	4	304	1	0	0	0	0	1	0	0	0	4801	884	31	1	2848	1	DUOX2	15	45398797	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		45398797	57132595	36	30902											
HERC1	8925	broad.mit.edu	37	chr15	63972937	63972937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagaaactccaacacaCgtgccttcattacctctgtt	6	14	2	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:63972937C>T	ENST00000443617.2	-	35	6351	c.6264G>A	c.(6262-6264)acG>acA	p.T2088T	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	2088	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						CTCCAACACACGTGCCTTCAT	0.373																																						ENST00000443617.2																			0				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						c.(6262-6264)acG>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							188	176	180					15																	63972937		1897	4118	6015	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63972937C>T	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.6264G>A	15.37:g.63972937C>T						RP11-317G6.1_ENST00000559303.2_RNA	p.T2088T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			35	6351	-			2088			B30.2/SPRY.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.6264G>A	CCDS45277.1																																																																																				0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		23	168	0	0	0	1	0	23	168					T	63972937	C	T	63972937	2	4	304	1	0	0	0	0	0	0	0	1	7057	523	19	1		1	HERC1	15	63972937	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	18574140	63972937	38558455	37	30903											
MYO9A	4649	broad.mit.edu	37	chr15	72190411	72190411	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattagaagactctgtattcAaagaaggaacaatctgatct	8	6	4	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:72190411A>T	ENST00000356056.5	-	25	4905	c.4433T>A	c.(4432-4434)tTg>tAg	p.L1478*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098*|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1478	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTGTATTCAAAGAAGGAAC	0.393																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4432-4434)tTg>tAg		myosin IXA							103	96	98					15																	72190411		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190411A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4433T>A	15.37:g.72190411A>T	ENSP00000348349:p.Leu1478*					MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098*	p.L1478*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4905	-			1478			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.4433T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355308	0.61293	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.92	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	5.9237	0.19096	0.6659:0.1302:0.2039:0.0	.	.	.	.	X	1478;1478;1459	.	ENSP00000348349:L1478X	L	-	2	0	MYO9A	69977465	0.000000	0.05858	0.439000	0.26833	0.747000	0.42532	0.250000	0.18235	1.074000	0.40909	0.528000	0.53228	TTG		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		10	114	0	0	0	1	0	10	114					T	72190411	A	T	72190411	4	4	304	1	0	0	0	0	0	1	0	0	10084	131	5	5	3285	5	MYO9A	15	72190411	Nonsense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	8217474	72190411	30340981	38	30904											
PALB2	79728	broad.mit.edu	37	chr16	23646265	23646265	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaacaatcgacaggctAgaagttggcaaaagtggttc	11	7	0	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr16:23646265A>G	ENST00000261584.4	-	4	1754	c.1602T>C	c.(1600-1602)tcT>tcC	p.S534S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	534	DNA-binding (with the preference D loop > dsDNA > ssDNA).				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)		TCGACAGGCTAGAAGTTGGCA	0.418			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	"F, N, Mis"	partner and localizer of BRCA2			"L, O, E"		"Wilms tumor, medulloblastoma, AML ,breast"			0				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						c.(1600-1602)tcT>tcC	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							144	134	137					16																	23646265		2197	4300	6497	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646265A>G		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.1602T>C	16.37:g.23646265A>G							p.S534S	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1754	-			534					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.1602T>C	CCDS32406.1																																																																																				0.418	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		5	127	0	0	0	1	0	5	127					G	23646265	A	G	23646265	2	3	304	1	0	0	0	0	0	0	0	1	11406	407	15	3		3	PALB2	16	23646265	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		23646265	66708488	39	30905											
GDPD1	284161	broad.mit.edu	37	chr17	57348316	57348316	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaagaaccacacaccAtgtccagaagtcaaaagttt	7	10	1	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:57348316A>G	ENST00000284116.4	+	8	867	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	244	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACCACACACCATGTCCAGAAG	0.279																																						ENST00000284116.4																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(730-732)Atg>Gtg		glycerophosphodiester phosphodiesterase domain containing 1							105	110	109					17																	57348316		2203	4297	6500	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57348316A>G	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.730A>G	17.37:g.57348316A>G	ENSP00000284116:p.Met244Val					GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V	p.M244V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN			8	867	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		244			GDPD.		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.730A>G	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	A	9.701	1.154470	0.21371	.	.	ENSG00000153982	ENST00000284116	T	0.09538	2.97	5.44	5.44	0.79542	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.230980	0.51477	D	0.000098	T	0.10035	0.0246	L	0.40543	1.245	0.39854	D	0.973289	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17077	-1.0381	10	0.17832	T	0.49	.	13.2241	0.59905	1.0:0.0:0.0:0.0	.	244;244	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	V	244	ENSP00000284116:M244V	ENSP00000284116:M244V	M	+	1	0	GDPD1	54703098	0.998000	0.40836	0.998000	0.56505	0.924000	0.55760	3.530000	0.53539	2.068000	0.61886	0.482000	0.46254	ATG		0.279	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		34	76	0	0	0	1	0	34	76					G	57348316	A	G	57348316	3	3	304	1	0	0	0	0	1	0	0	0	6323	217	8	3	760	3	GDPD1	17	57348316	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08		57348316	23846894	40	30906											
SMARCD2	6603	broad.mit.edu	37	chr17	61911645	61911645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctcgtctgcgtgtgcactCccagcagccttgccaatcgg	10	17	1	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:61911645C>T	ENST00000448276.2	-	8	1230	c.965G>A	c.(964-966)gGa>gAa	p.G322E	SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E|SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	322	SWIB.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGTGTGCACTCCCAGCAGCCT	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(964-966)gGa>gAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							26	27	27					17																	61911645		2014	4165	6179	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911645C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.965G>A	17.37:g.61911645C>T	ENSP00000392617:p.Gly322Glu		OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1057	SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E|SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E	p.G322E	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			8	1230	-			322			SWIB.		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.965G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.484002	0.26598	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.58940	0.3;0.37	5.55	5.55	0.83447	SWIB/MDM2 domain (2);	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.93638	3.44	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	D	0.86256	0.1652	10	0.87932	D	0	-22.3518	17.0466	0.86505	0.0:1.0:0.0:0.0	.	274;285;322	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	E	322;264;285;274	ENSP00000392617:G322E;ENSP00000318451:G274E	ENSP00000225742:G264E	G	-	2	0	SMARCD2	59265377	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	7.651000	0.83577	2.894000	0.99253	0.655000	0.94253	GGA		0.567	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		7	23	0	0	0	1	0	7	23					T	61911645	C	T	61911645	3	4	304	1	0	0	0	0	1	0	0	0	14778	855	30	2	654	2	SMARCD2	17	61911645	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	4563329	61911645	19283565	41	30907											
SMARCA4	6597	broad.mit.edu	37	chr19	11135091	11135091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaagggcgtgctgctgactGatggctccgagaaggacaag	15	10	0	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:11135091G>T	ENST00000429416.3	+	22	3339	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					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)				GCTGCTGACTGATGGCTCCGA	0.627			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(3058-3060)Gat>Tat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							73	59	64					19																	11135091		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11135091G>T	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.3058G>T	19.37:g.11135091G>T	ENSP00000395654:p.Asp1020Tyr					SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y	p.D1020Y	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			21	3342	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1020					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3058G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884577	0.72410	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	4.76	4.76	0.60689	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.74647	2.275	0.58432	D	0.999999	D;D;D;P;D;P;D;D	0.89917	0.999;0.997;1.0;0.944;0.999;0.537;1.0;1.0	D;D;D;D;D;P;D;D	0.77004	0.989;0.981;0.986;0.918;0.989;0.722;0.989;0.989	D	0.90510	0.4480	10	0.87932	D	0	-36.5944	16.6873	0.85312	0.0:0.0:1.0:0.0	.	1020;1020;1020;1020;1020;240;1020;1020	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Y	1020;1020;1084;1020;1020;1020;1020;1020	ENSP00000395654:D1020Y;ENSP00000350720:D1020Y;ENSP00000343896:D1020Y;ENSP00000445036:D1020Y;ENSP00000392837:D1020Y;ENSP00000397783:D1020Y;ENSP00000414727:D1020Y	ENSP00000343896:D1020Y	D	+	1	0	SMARCA4	10996091	1.000000	0.71417	0.933000	0.37362	0.503000	0.33858	9.411000	0.97342	2.468000	0.83385	0.655000	0.94253	GAT		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	33	1	0	9.16793e-09	1	9.42987e-09	18	33					T	11135091	G	T	11135091	3	4	304	1	0	0	0	0	1	0	0	0	14770	1290	45	4	3136	4	SMARCA4	19	11135091	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		11135091	47993892	42	30908											
ZNF490	57474	broad.mit.edu	37	chr19	12692359	12692359	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggtttctgttcagtgtgaGatctcatgtgcctattaagg	11	6	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:12692359G>A	ENST00000311437.6	-	5	652	c.530C>T	c.(529-531)tCt>tTt	p.S177F	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	177					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						TTCAGTGTGAGATCTCATGTG	0.443																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(529-531)tCt>tTt		zinc finger protein 490							218	177	191					19																	12692359		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12692359G>A	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.530C>T	19.37:g.12692359G>A	ENSP00000311521:p.Ser177Phe						p.S177F	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	652	-			177						Missense_Mutation	SNP	ENST00000311437.6	37	c.530C>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.394836	0.01175	.	.	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.18338	2.22;4.71	0.996	-0.188	0.13264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18130	0.0435	L	0.31845	0.965	0.09310	N	1	D	0.54601	0.967	P	0.54856	0.762	T	0.13548	-1.0505	9	0.51188	T	0.08	.	3.8373	0.08899	0.1842:0.2595:0.5564:0.0	.	177	Q9ULM2	ZN490_HUMAN	F	177;124	ENSP00000311521:S177F;ENSP00000404112:S124F	ENSP00000311521:S177F	S	-	2	0	ZNF490	12553359	0.000000	0.05858	0.024000	0.17045	0.017000	0.09413	-0.060000	0.11712	-0.013000	0.14199	0.491000	0.48974	TCT		0.443	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		72	131	0	0	0	1	0	72	131					A	12692359	G	A	12692359	3	1	304	1	0	0	0	0	1	0	0	0	17938	942	33	2	1063	2	ZNF490	19	12692359	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1557268	12692359	46436624	43	30909											
IL27RA	9466	broad.mit.edu	37	chr19	14157294	14157294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatcgctgggagcacGgagctactggtgacctggca	15	11	0	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:14157294G>A	ENST00000263379.2	+	8	1130	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	335	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCACGGAGCTACTGG	0.627																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1003-1005)acG>acA		interleukin 27 receptor, alpha							90	95	93					19																	14157294		2203	4300	6503	SO:0001819	synonymous_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157294G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1005G>A	19.37:g.14157294G>A							p.T335T	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			8	1130	+			335			Fibronectin type-III 2.		A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	c.1005G>A	CCDS12303.1																																																																																				0.627	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		14	203	0	0	0	1	0	14	203					A	14157294	G	A	14157294	2	1	304	1	0	0	0	0	0	0	0	1	7681	1103	39	1		1	IL27RA	19	14157294	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1464935	14157294	44971689	44	30910											
ZNF681	148213	broad.mit.edu	37	chr19	23927189	23927189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtttctctccagtaTgaattatcttatgtgtagta	9	5	2	1	rs145416258	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:23927189T>C	ENST00000402377.3	-	4	1304	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	388					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(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCTCCAGTATGAATTATCTT	0.398																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1162-1164)cAt>cGt		zinc finger protein 681							65	71	69					19																	23927189		2201	4300	6501	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927189T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1163A>G	19.37:g.23927189T>C	ENSP00000384000:p.His388Arg					ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R	p.H388R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1304	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	388					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1163A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642813	0.29246	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.67523	-0.27;-0.27	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77778	0.4181	M	0.76838	2.35	0.33311	D	0.566147	D	0.89917	1.0	D	0.79784	0.993	T	0.79584	-0.1743	9	0.87932	D	0	.	6.6698	0.23062	0.0:0.0:0.0:1.0	.	388	Q96N22	ZN681_HUMAN	R	388;319	ENSP00000384000:H388R;ENSP00000378783:H319R	ENSP00000378783:H319R	H	-	2	0	ZNF681	23719029	1.000000	0.71417	0.114000	0.21550	0.315000	0.28087	3.827000	0.55745	0.663000	0.31027	0.260000	0.18958	CAT		0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		30	56	0	0	0	1	0	30	56					C	23927189	T	C	23927189	3	2	304	1	0	0	0	0	1	0	0	0	18085	1464	51	3	778	3	ZNF681	19	23927189	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	9769895	23927189	35201794	45	30911											
ZNF229	7772	broad.mit.edu	37	chr19	44932761	44932761	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcttctcgccagtgtgcactCtcttatgactaaggagacct	9	12	2	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:44932761C>T	ENST00000588931.1	-	6	2628	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	ZNF229_ENST00000291187.4_Missense_Mutation_p.R726K|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGTGTGCACTCTCTTATGACT	0.517																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(2176-2178)aGa>aAa		zinc finger protein 229							61	67	65					19																	44932761		2178	4292	6470	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932761C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2195G>A	19.37:g.44932761C>T	ENSP00000466519:p.Arg732Lys					ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R732K|CTC-512J12.4_ENST00000588655.1_RNA	p.R726K	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2499	-		Prostate(69;0.0352)	732					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.2177G>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046856	0.75846	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.82	0.165	0.14995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25195	0.0612	L	0.42529	1.33	0.09310	N	1	P	0.36465	0.554	B	0.32928	0.155	T	0.12811	-1.0533	8	0.48119	T	0.1	.	5.8363	0.18609	0.1502:0.6665:0.0:0.1833	.	732	Q9UJW7	ZN229_HUMAN	K	732	.	ENSP00000291187:R732K	R	-	2	0	ZNF229	49624601	0.000000	0.05858	0.025000	0.17156	0.445000	0.32107	0.189000	0.17037	0.109000	0.17891	0.609000	0.83330	AGA		0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		4	45	0	0	0	1	0	4	45					T	44932761	C	T	44932761	3	4	304	1	0	0	0	0	1	0	0	0	17779	913	32	2	286	2	ZNF229	19	44932761	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	21005572	44932761	14196222	46	30912											
IQGAP3	128239	broad.mit.edu	37	chr1	156499981	156499981	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agtcggcgtaggttccgcagGacgcgccgctgcttctctgc	14	14	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	ENST00000361170.2	-	34	4330	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1440					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)					GGTTCCGCAGGACGCGCCGCT	0.647																																						ENST00000361170.2																			0				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						c.(4318-4320)gtC>gtG		IQ motif containing GTPase activating protein 3							52	47	49					1																	156499981		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156499981G>C	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.4320C>G	1.37:g.156499981G>C							p.V1440V	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			34	4330	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1440					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4320C>G	CCDS1144.1																																																																																				0.647	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		6	11	0	0	0	1	0	6	11					C	156499981	G	C	156499981	2	2	305	1	0	0	0	0	0	0	0	1	7816	1161	41	4		4	IQGAP3	1	156499981	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		156499981	92750640	1	30913											
RXRG	6258	broad.mit.edu	37	chr1	165389159	165389159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttaaccagagatccgggGctggtggatgggtagttcat	15	6	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	ENST00000359842.5	-	3	692	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	130	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(388-390)agC>agT		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						143	134	137					1																	165389159		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165389159G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.390C>T	1.37:g.165389159G>A						RXRG_ENST00000470566.1_5'UTR	p.S130S	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			3	692	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		130			Modulating (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.390C>T	CCDS1248.1																																																																																				0.522	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		12	37	0	0	0	1	0	12	37					A	165389159	G	A	165389159	2	1	305	1	0	0	0	0	0	0	0	1	13765	1194	42	2		2	RXRG	1	165389159	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	8889178	165389159	83861462	2	30914											
H3F3A	3020	broad.mit.edu	37	chr1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtctctgtaccatggctCgtacaaagcagactgcccgc	11	13	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	ENST00000366813.1	+	1	382	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Missense_Mutation_p.R3C|H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C			P84243	H33_HUMAN	H3 histone, family 3A	3					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)	p.R3C(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		TACCATGGCTCGTACAAAGCA	0.498			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3				Dom	yes		1	1q42.12	3020	Mis	"H3 histone, family 3A"			O			glioma		1	Substitution - Missense(1)	p.R3C(1)	upper_aerodigestive_tract(1)	central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(7-9)Cgt>Tgt		H3 histone, family 3A							31	33	32					1																	226252059		2202	4300	6502	SO:0001583	missense	3020							g.chr1:226252059C>T	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.7C>T	1.37:g.226252059C>T	ENSP00000355778:p.Arg3Cys		OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C|H3F3A_ENST00000366813.1_Missense_Mutation_p.R3C	p.R3C						GBM - Glioblastoma multiforme(131;0.203)	2	128	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.7C>T	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335723	0.24253	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.001	D;B	0.79784	0.993;0.001	T	0.75382	-0.3337	9	0.72032	D	0.01	.	16.7598	0.85509	0.0:1.0:0.0:0.0	.	3;3	B4DEB1;P84243	.;H33_HUMAN	C	3	ENSP00000355781:R3C;ENSP00000355780:R3C;ENSP00000355779:R3C;ENSP00000355778:R3C	ENSP00000355778:R3C	R	+	1	0	H3F3A	224318682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.535000	0.60629	2.106000	0.64143	0.655000	0.94253	CGT		0.498	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		12	18	0	0	0	1	0	12	18					T	226252059	C	T	226252059	3	4	305	1	0	0	0	0	1	0	0	0	6933	884	31	1	9	1	H3F3A	1	226252059	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	60862900	226252059	22998562	3	30915											
OBSCN	84033	broad.mit.edu	37	chr1	228461596	228461596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacggtgacctggctcaagGatggtgtggagattcgccgc	15	11	1	2	rs369449033		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	ENST00000422127.1	+	18	5307	c.5263G>A	c.(5263-5265)Gat>Aat	p.D1755N	RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000366707.4_De_novo_Start_OutOfFrame|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CTGGCTCAAGGATGGTGTGGA	0.647																																						ENST00000366707.4																			0				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								obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	ASN/ASP,ASN/ASP	0,4176		0,0,2088	21	25	24		5263,5263	5.4	1	1		24	1,8429		0,1,4214	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	23,23	0,1,6302	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging	1755/7969,1755/6621	228461596	1,12605	2088	4215	6303	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228461596G>A	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.5263G>A	1.37:g.228461596G>A	ENSP00000409493:p.Asp1755Asn					OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1755N				Q5VST9	OBSCN_HUMAN			0	5307	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Translation_Start_Site	SNP	ENST00000422127.1	37		CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499880	0.44455	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.75938	-0.98;-0.98;-0.98	5.38	5.38	0.77491	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172227	0.39020	N	0.001493	T	0.81917	0.4924	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.881;0.999	T	0.79264	-0.1875	10	0.30854	T	0.27	.	13.4313	0.61057	0.0777:0.0:0.9223:0.0	.	1755;1755	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	1755;1755;602	ENSP00000284548:D1755N;ENSP00000409493:D1755N;ENSP00000352613:D602N	ENSP00000284548:D1755N	D	+	1	0	OBSCN	226528219	1.000000	0.71417	0.968000	0.41197	0.174000	0.22865	4.114000	0.57858	2.533000	0.85409	0.555000	0.69702	GAT		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	9	0	0	0	1	0	8	9					A	228461596	G	A	228461596	3	1	305	1	0	0	0	0	1	0	0	0	10812	1174	41	2	5329	2	OBSCN	1	228461596	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	2209537	228461596	20789025	4	30916											
HEATR1	55127	broad.mit.edu	37	chr1	236744701	236744701	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttgaataactgaaaaacaTcttctagatgcacctaatta	4	8	2	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	ENST00000366582.3	-	20	2690	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	859					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)			CTGAAAAACATCTTCTAGATG	0.328																																						ENST00000366582.3																			0				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						c.(2575-2577)gAt>gTt		HEAT repeat containing 1							81	81	81					1																	236744701		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744701T>A	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.2576A>T	1.37:g.236744701T>A	ENSP00000355541:p.Asp859Val					HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2690	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	859					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2576A>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705220	0.68615	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.69040	3.42;-0.37	5.85	4.73	0.59995	Armadillo-type fold (1);	0.261755	0.43919	D	0.000520	T	0.71031	0.3292	M	0.67953	2.075	0.80722	D	1	P;D	0.62365	0.949;0.991	P;P	0.52514	0.521;0.701	T	0.72711	-0.4211	10	0.66056	D	0.02	.	8.8985	0.35479	0.0:0.1421:0.0:0.8579	.	859;859	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	859	ENSP00000355541:D859V;ENSP00000355540:D859V	ENSP00000355540:D859V	D	-	2	0	HEATR1	234811324	0.631000	0.27164	0.976000	0.42696	0.985000	0.73830	1.596000	0.36718	1.056000	0.40484	0.533000	0.62120	GAT		0.328	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		9	39	0	0	0	1	0	9	39					A	236744701	T	A	236744701	3	1	305	1	0	0	0	0	1	0	0	0	7027	1435	50	5	3962	5	HEATR1	1	236744701	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08	8283105	236744701	12505920	5	30917											
SRBD1	55133	broad.mit.edu	37	chr2	45620175	45620175	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcaatctttctgcaattttCtccattccttccttttcaag	3	12	4	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	ENST00000263736.4	-	20	2669	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	869					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)			CTGCAATTTTCTCCATTCCTT	0.403																																						ENST00000263736.4																			0				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						c.(2605-2607)gaG>gaA		S1 RNA binding domain 1							360	283	309					2																	45620175		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45620175C>T	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.2607G>A	2.37:g.45620175C>T						SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	p.E869E	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		20	2669	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	869					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.2607G>A	CCDS1823.1																																																																																				0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		26	40	0	0	0	1	0	26	40					T	45620175	C	T	45620175	2	4	305	1	0	0	0	0	0	0	0	1	15132	912	32	2		2	SRBD1	2	45620175	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45620175	197579198	6	30918											
PDK1	5163	broad.mit.edu	37	chr2	173431601	173431601	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagatggctatgaaaatgctAggcgtctgtgtgatttgtat	12	4	1	3	rs148646668	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	ENST00000282077.3	+	6	891	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_ENST00000410055.1_Missense_Mutation_p.R237W|PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W|PDK1_ENST00000544863.1_Missense_Mutation_p.R82W			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	237	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)			TGAAAATGCTAGGCGTCTGTG	0.323									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(709-711)Agg>Tgg		pyruvate dehydrogenase kinase, isozyme 1							142	142	142					2																	173431601		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173431601A>T	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.709A>T	2.37:g.173431601A>T	ENSP00000282077:p.Arg237Trp					PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000282077.2_Missense_Mutation_p.R237W|PDK1_ENST00000544863.1_Missense_Mutation_p.R82W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W	p.R237W	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		6	809	+			237			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.709A>T	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091156	0.76756	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.67171	0.76;-0.23;1.06;1.05;1.06;-0.25	5.49	5.49	0.81192	ATPase-like, ATP-binding domain (2);	0.125660	0.64402	D	0.000001	D	0.82531	0.5057	M	0.86573	2.825	0.58432	D	0.99999	D;D	0.76494	0.999;0.984	P;P	0.62560	0.904;0.832	D	0.86162	0.1594	10	0.87932	D	0	-18.2878	15.5939	0.76562	1.0:0.0:0.0:0.0	.	237;257	Q15118;E9PD65	PDK1_HUMAN;.	W	161;82;237;257;237;155	ENSP00000438567:R161W;ENSP00000437502:R82W;ENSP00000282077:R237W;ENSP00000376352:R257W;ENSP00000386985:R237W;ENSP00000399160:R155W	ENSP00000282077:R237W	R	+	1	2	PDK1	173139847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.007000	0.63984	2.095000	0.63458	0.533000	0.62120	AGG		0.323	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		3	16	0	0	0	1	0	3	16					T	173431601	A	T	173431601	3	4	305	1	0	0	0	0	1	0	0	0	11675	411	15	5	731	5	PDK1	2	173431601	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08	127811426	173431601	69767772	7	30919											
TTN	7273	broad.mit.edu	37	chr2	179443857	179443857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacctttatggagatagttcCttccttggtgccagcaacat	8	10	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:179443857C>G	ENST00000591111.1	-	270	63201	c.62977G>C	c.(62977-62979)Gga>Cga	p.G20993R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G22634R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20993	Ig-like 112.				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)			GAGATAGTTCCTTCCTTGGTG	0.443																																						ENST00000589042.1																			0				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						c.(67900-67902)Gga>Cga		titin							132	123	126					2																	179443857		1936	4145	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443857C>G	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.62977G>C	2.37:g.179443857C>G	ENSP00000465570:p.Gly20993Arg					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20993R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN-AS1_ENST00000586831.1_RNA	p.G22634R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	68124	-			20993			Fibronectin type-III 64.		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	ENST00000591111.1	37	c.67900G>C		.	.	.	.	.	.	.	.	.	.	C	11.68	1.710702	0.30322	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62829	0.2460	N	0.16708	0.43	0.37004	D	0.895391	D;D;D;D	0.54772	0.968;0.968;0.968;0.968	P;P;P;P	0.58331	0.837;0.837;0.837;0.837	T	0.70655	-0.4812	9	0.87932	D	0	.	15.1807	0.72956	0.141:0.859:0.0:0.0	.	13569;13694;13761;20993	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	20066;13569;13761;13694;13567	ENSP00000343764:G20066R;ENSP00000434586:G13569R;ENSP00000340554:G13761R;ENSP00000352154:G13694R	ENSP00000340554:G13761R	G	-	1	0	TTN	179152103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.102000	0.57776	2.833000	0.97629	0.655000	0.94253	GGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	34	0	0	0	1	0	11	34					G	179443857	C	G	179443857	3	3	305	1	0	0	0	0	1	0	0	0	16732	690	24	4	40251	4	TTN	2	179443857	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6012256	179443857	63755516	8	30920											
CCBP2	1238	broad.mit.edu	37	chr3	42907140	42907140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggatgtggggaataaAtcagcctgagtgaccaaatt	13	5	1	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:42907140A>G	ENST00000422265.1	+	3	1321	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	ACKR2_ENST00000273145.2_Silent_p.K382K|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.K382K|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	382	C-terminal cytoplasmic tail.				chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TGGGGAATAAATCAGCCTGAG	0.502																																						ENST00000422265.1																			0											c.(1144-1146)aaA>aaG		atypical chemokine receptor 2							71	74	73					3																	42907140		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42907140A>G	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.1146A>G	3.37:g.42907140A>G						ACKR2_ENST00000442925.1_Silent_p.K382K|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.K382K|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.K382K	NM_001296.4	NP_001287.2					3	1321	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.1146A>G	CCDS2706.1																																																																																				0.502	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		14	24	0	0	0	1	0	14	24					G	42907140	A	G	42907140	2	3	305	1	0	0	0	0	0	0	0	1	2734	98	4	3		3	CCBP2	3	42907140	Silent	SNP	A	TCGA-HT-8110-01A-11D-2395-08		42907140	155115290	9	30921											
IMPDH2	54870	broad.mit.edu	37	chr3	49065256	49065256	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgattgggataccgcAgaaaccatgccgggccttgg	14	10	1	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.C140S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGATACCGCAGAAACCATGC	0.542																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(418-420)Tgc>Agc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						63	62	62					3																	49065256		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065256A>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065256A>T							p.C140S	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	457	-			140			CBS 1.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.418T>A	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.18|11.18	1.563211|1.563211	0.27915|0.27915	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	D;D|.	0.91792|.	-2.91;-2.91|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);|.	0.039454|.	0.85682|.	D|.	0.000000|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.00165|0.00165	-1.945|-1.945	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.39313|0.39313	-0.9620|-0.9620	10|5	0.02654|.	T|.	1|.	-13.3832|-13.3832	16.1911|16.1911	0.81989|0.81989	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	140|.	P12268|.	IMDH2_HUMAN|.	S|Q	140;140;115|71	ENSP00000321584:C140S;ENSP00000403502:C115S|.	ENSP00000321584:C140S|.	C|L	-|-	1|2	0|0	IMPDH2|IMPDH2	49040260|49040260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.233000|9.233000	0.95337|0.95337	2.223000|2.223000	0.72356|0.72356	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.542	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		15	43	0	0	0	1	0	15	43					T	49065256	A	T	49065256	1	4	305	0	1	0	0	0	0	0	0	0	7727	188	7	5		5	IMPDH2	3	49065256	IGR	SNP	A	TCGA-HT-8110-01A-11D-2395-08	6158116	49065256	148957174	10	30922											
FAIM	55179	broad.mit.edu	37	chr3	138341217	138341217	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaaaccaccaatacttGggtattacacatggatggtg	8	8	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	ENST00000393035.2	+	3	408	c.299G>A	c.(298-300)tGg>tAg	p.W100*	FAIM_ENST00000338446.4_Nonsense_Mutation_p.W134*|FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	100					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333																																						ENST00000338446.4																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(400-402)tGg>tAg		Fas apoptotic inhibitory molecule							104	107	106					3																	138341217		2203	4300	6503	SO:0001587	stop_gained	55179				apoptosis	cytoplasm		g.chr3:138341217G>A	AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.299G>A	3.37:g.138341217G>A	ENSP00000376755:p.Trp100*					FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*|FAIM_ENST00000393035.2_Nonsense_Mutation_p.W100*	p.W134*	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN			4	1084	+			100					Q6IAN2	Nonsense_Mutation	SNP	ENST00000393035.2	37	c.401G>A	CCDS3103.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065468	0.97251	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8292	17.6002	0.88024	0.0:0.0:1.0:0.0	.	.	.	.	X	134;122;100;100;100;100	.	ENSP00000342805:W134X	W	+	2	0	FAIM	139823907	1.000000	0.71417	0.650000	0.29550	0.966000	0.64601	9.869000	0.99810	2.745000	0.94114	0.650000	0.86243	TGG		0.333	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032		14	24	0	0	0	1	0	14	24					A	138341217	G	A	138341217	4	1	305	1	0	0	0	0	0	1	0	0	5375	1357	47	2	459	2	FAIM	3	138341217	Nonsense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	89275961	138341217	59681213	11	30923											
BOD1L	259282	broad.mit.edu	37	chr4	13600828	13600828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaatacatttggtggtacTggttttcaagttgtcttcag	10	5	3	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:13600828T>C	ENST00000040738.5	-	10	7831	c.7696A>G	c.(7696-7698)Agt>Ggt	p.S2566G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2566						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGGTGGTACTGGTTTTCAAG	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7696-7698)Agt>Ggt		biorientation of chromosomes in cell division 1-like 1							100	90	94					4																	13600828		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13600828T>C	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.7696A>G	4.37:g.13600828T>C	ENSP00000040738:p.Ser2566Gly		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.S2566G	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7831	-			2566					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7696A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	6.653	0.489012	0.12641	.	.	ENSG00000038219	ENST00000040738	T	0.06933	3.24	4.82	-2.7	0.06004	.	0.707060	0.12868	N	0.432563	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.42155	-0.9468	10	0.25751	T	0.34	.	5.8566	0.18722	0.0:0.2272:0.2359:0.5369	.	2566	Q8NFC6	BOD1L_HUMAN	G	2566	ENSP00000040738:S2566G	ENSP00000040738:S2566G	S	-	1	0	BOD1L	13209926	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.299000	0.08254	-0.780000	0.04553	-1.477000	0.00996	AGT		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	11	0	0	0	1	0	8	11					C	13600828	T	C	13600828	3	2	305	1	0	0	0	0	1	0	0	0	1483	1580	55	3	1527	3	BOD1L	4	13600828	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08		13600828	177553448	12	30924											
SEL1L3	23231	broad.mit.edu	37	chr4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	TA	-													ataaagccacaatgaaacagTaaacctataagagtgagggg							TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	ENST00000399878.3	-	4	986_987	c.864_865delTA	c.(862-867)tttactfs	p.T289fs	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.T136fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.T254fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	289						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(862-867)ttctfs		sel-1 suppressor of lin-12-like 3 (C. elegans)																																				SO:0001589	frameshift_variant	23231					integral to membrane	binding	g.chr4:25835187_25835188delTA	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.864_865delTA	4.37:g.25835187_25835188delTA	ENSP00000382767:p.Thr289fs					SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.FT135fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.FT253fs|SEL1L3_ENST00000513364.1_5'UTR	p.FT288fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			4	986_987	-			288					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	ENST00000399878.3	37	c.864_865delTA	CCDS47037.1																																																																																				0.376	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		2	4						2	4	---	---	---	---	-	25835188	TA	-	25835187	7	5	305	1	0	1	0	1	0	0	0	0	14012	1638	57	0	2617	0	SEL1L3	4	25835187	Frame_Shift_Del	DEL	TA	TCGA-HT-8110-01A-11D-2395-08	12234359	25835187	165319089	13	30925											
HHIP	64399	broad.mit.edu	37	chr4	145636526	145636526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgtctcggcactagtgGgtcctgtagaggctactttt	11	10	2	1	rs199900341		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	ENST00000296575.3	+	10	2277	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	541					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17339	0.0		0.001	False		,,,				2504	0.0					ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1621-1623)gGg>gAg		hedgehog interacting protein							122	112	115					4																	145636526		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145636526G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1622G>A	4.37:g.145636526G>A	ENSP00000296575:p.Gly541Glu						p.G541E	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	10	2277	+	all_hematologic(180;0.151)		541					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1622G>A	CCDS3762.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.1	3.932900	0.73442	.	.	ENSG00000164161	ENST00000296575	T	0.05580	3.42	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.204963	0.53938	D	0.000060	T	0.13713	0.0332	L	0.41710	1.295	0.80722	D	1	D	0.76494	0.999	P	0.55508	0.777	T	0.15150	-1.0447	10	0.12766	T	0.61	-12.855	20.6243	0.99512	0.0:0.0:1.0:0.0	.	541	Q96QV1	HHIP_HUMAN	E	541	ENSP00000296575:G541E	ENSP00000296575:G541E	G	+	2	0	HHIP	145855976	1.000000	0.71417	0.926000	0.36857	0.942000	0.58702	5.868000	0.69605	2.879000	0.98667	0.650000	0.86243	GGG		0.428	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			15	33	0	0	0	1	0	15	33					A	145636526	G	A	145636526	3	1	305	1	0	0	0	0	1	0	0	0	7092	1232	43	2	1660	2	HHIP	4	145636526	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	119801339	145636526	45517750	14	30926											
RNF175	285533	broad.mit.edu	37	chr4	154636798	154636798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagctccttgtaggcaacCggctgacactgtagaactat	9	10	0	2	rs181124344	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	ENST00000347063.4	-	7	1019	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	RNF175_ENST00000274068.4_Missense_Mutation_p.R88Q	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	216						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502													C|||	17	0.00339457	0.0113	0.0	5008	,	,		20329	0.002		0.0	False		,,,				2504	0.0					ENST00000274068.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13						c.(262-264)cGg>cAg		ring finger protein 175		C	GLN/ARG	48,4044		0,48,1998	81	76	78		647	3.5	1	4		78	0,8424		0,0,4212	yes	missense	RNF175	NM_173662.2	43	0,48,6210	TT,TC,CC		0.0,1.173,0.3835	benign	216/329	154636798	48,12468	2046	4212	6258	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154636798C>T	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"RING-type (C3HC4) zinc fingers"	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.647G>A	4.37:g.154636798C>T	ENSP00000340979:p.Arg216Gln					RNF175_ENST00000347063.4_Missense_Mutation_p.R216Q	p.R88Q			Q8N4F7	RN175_HUMAN			6	639	-	all_hematologic(180;0.093)	Renal(120;0.118)	216					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.263G>A	CCDS47149.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.61	1.689217	0.29962	0.01173	0.0	ENSG00000145428	ENST00000347063;ENST00000274068	T;T	0.16597	2.33;2.33	4.35	3.48	0.39840	Zinc finger, RING/FYVE/PHD-type (1);	0.137252	0.46758	D	0.000264	T	0.05868	0.0153	N	0.14661	0.345	0.19575	N	0.999964	B;P	0.35628	0.411;0.513	B;B	0.26416	0.006;0.069	T	0.23440	-1.0188	10	0.35671	T	0.21	-13.4976	11.7585	0.51888	0.1774:0.8226:0.0:0.0	.	88;216	Q8NB61;Q8N4F7	.;RN175_HUMAN	Q	216;88	ENSP00000340979:R216Q;ENSP00000274068:R88Q	ENSP00000274068:R88Q	R	-	2	0	RNF175	154856248	0.987000	0.35691	0.982000	0.44146	0.050000	0.14768	1.865000	0.39479	1.374000	0.46228	0.591000	0.81541	CGG		0.502	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		10	18	0	0	0	1	0	10	18					T	154636798	C	T	154636798	3	4	305	1	0	0	0	0	1	0	0	0	13463	652	23	1	351	1	RNF175	4	154636798	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	9000272	154636798	36517478	15	30927											
PRDM9	56979	broad.mit.edu	37	chr5	23522989	23522989	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccaacaatggatactccTggctggtaagaagagcctgc	11	11	0	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	ENST00000296682.3	+	8	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	293	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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						TGGATACTCCTGGCTGGTAAG	0.493										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(877-879)Tgg>Agg		PR domain containing 9							72	75	74					5																	23522989		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522989T>A	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.877T>A	5.37:g.23522989T>A	ENSP00000296682:p.Trp293Arg	HNSCC(3;0.000094)					p.W293R	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	1059	+			293			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.877T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597463	0.46318	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.81078	-1.45	4.14	4.14	0.48551	SET domain (2);	0.000000	0.34156	N	0.004203	D	0.91192	0.7225	H	0.94462	3.54	0.58432	D	0.999993	D	0.71674	0.998	D	0.81914	0.995	D	0.92269	0.5823	10	0.87932	D	0	-20.5791	9.8586	0.41101	0.0:0.0:0.0:1.0	.	293	Q9NQV7	PRDM9_HUMAN	R	293;87	ENSP00000296682:W293R	ENSP00000253473:W87R	W	+	1	0	PRDM9	23558746	1.000000	0.71417	0.999000	0.59377	0.141000	0.21300	5.340000	0.65958	1.634000	0.50500	0.487000	0.48397	TGG		0.493	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		19	48	0	0	0	1	0	19	48					A	23522989	T	A	23522989	3	1	305	1	0	0	0	0	1	0	0	0	12463	1580	55	5	903	5	PRDM9	5	23522989	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08		23522989	157392271	16	30928											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753227	41753227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgatggacaactctactgCggccgtcatcatgcagagtt	10	11	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	ENST00000394260.1	+	3	411	c.411C>T	c.(409-411)tgC>tgT	p.C137C	PRICKLE4_ENST00000394259.1_Silent_p.C137C|TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Silent_p.C177C|PRICKLE4_ENST00000359201.5_Silent_p.C177C|PRICKLE4_ENST00000458694.1_Silent_p.C177C			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	137	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622																																						ENST00000359201.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(529-531)tgC>tgT		prickle homolog 4 (Drosophila)							46	48	47					6																	41753227		2203	4300	6503	SO:0001819	synonymous_variant	29964					nucleus	zinc ion binding	g.chr6:41753227C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.411C>T	6.37:g.41753227C>T						PRICKLE4_ENST00000458694.1_Silent_p.C177C|PRICKLE4_ENST00000394259.1_Silent_p.C137C|PRICKLE4_ENST00000394260.1_Silent_p.C137C|PRICKLE4_ENST00000394263.1_Silent_p.C177C	p.C177C			Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1120	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		137			LIM zinc-binding 2.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	ENST00000394260.1	37	c.531C>T																																																																																					0.622	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		18	46	0	0	0	1	0	18	46					T	41753227	C	T	41753227	2	4	305	1	0	0	0	0	0	0	0	1	12489	776	27	1		1	PRICKLE4	6	41753227	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		41753227	129361840	17	30929											
KIAA1244	57221	broad.mit.edu	37	chr6	138601169	138601169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtgcagaccagcggcGtgctgatggtcttctctcag	14	11	3	2	rs369625027		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	ENST00000251691.4	+	14	2495	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		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)		GACCAGCGGCGTGCTGATGGT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		21911	0.0		0.0	False		,,,				2504	0.001					ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2329-2331)Gtg>Atg		KIAA1244							134	116	122					6																	138601169		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138601169G>A	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.2329G>A	6.37:g.138601169G>A	ENSP00000251691:p.Val777Met						p.V777M	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	14	2495	+	Breast(32;0.135)		777			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2329G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949765	0.73787	.	.	ENSG00000112379	ENST00000251691	T	0.43294	0.95	5.86	4.99	0.66335	SEC7-like (1);	0.412335	0.28317	N	0.015785	T	0.22282	0.0537	M	0.65498	2.005	0.48830	D	0.99971	P	0.35155	0.487	B	0.21360	0.034	T	0.12344	-1.0551	10	0.51188	T	0.08	-14.9893	10.9793	0.47483	0.1417:0.0:0.8583:0.0	.	777	Q5TH69	BIG3_HUMAN	M	777	ENSP00000251691:V777M	ENSP00000251691:V777M	V	+	1	0	KIAA1244	138642862	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.597000	0.61062	1.493000	0.48517	0.655000	0.94253	GTG		0.547	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		17	26	0	0	0	1	0	17	26					A	138601169	G	A	138601169	3	1	305	1	0	0	0	0	1	0	0	0	8217	1145	40	1	2383	1	KIAA1244	6	138601169	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	96847942	138601169	32513898	18	30930											
CDCA7L	55536	broad.mit.edu	37	chr7	21956473	21956473	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccaacaaactcttcatcatCactgggggcgttaaagatgt	9	10	4	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	ENST00000406877.3	-	2	343	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	22					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(64-66)Gat>Aat		cell division cycle associated 7-like							180	179	179					7																	21956473		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21956473C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.64G>A	7.37:g.21956473C>T	ENSP00000383986:p.Asp22Asn					CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_5'UTR	p.D22N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			2	343	-			22					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.64G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633478	0.87660	.	.	ENSG00000164649	ENST00000406877;ENST00000373934	T;T	0.52754	0.67;0.65	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000016	T	0.66674	0.2813	L	0.56769	1.78	0.40950	D	0.98453	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	T	0.69621	-0.5096	10	0.87932	D	0	0.2358	17.5621	0.87910	0.0:1.0:0.0:0.0	.	22;22;22;22	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	N	22	ENSP00000383986:D22N;ENSP00000363045:D22N	ENSP00000363045:D22N	D	-	1	0	CDCA7L	21922998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.310000	0.65780	2.583000	0.87209	0.555000	0.69702	GAT		0.463	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		30	130	0	0	0	1	0	30	130					T	21956473	C	T	21956473	3	4	305	1	0	0	0	0	1	0	0	0	3091	826	29	2	1336	2	CDCA7L	7	21956473	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		21956473	137182190	19	30931											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	9	7	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.R108K(6)		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)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		6	Substitution - Missense(6)	p.R108K(6)	central_nervous_system(6)	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						c.(322-324)aGa>aAa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118	119	119					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		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.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K	p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		3	500	+	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)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	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;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		692	44	0	0	0	1	0	692	44					A	55211080	G	A	55211080	3	1	305	1	0	0	0	0	1	0	0	0	4967	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	33254607	55211080	103927583	20	30932											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	9	14	0	2	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	ENST00000329008.5	-	3	517	c.219C>T	c.(217-219)agC>agT	p.S73S	CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S|CALN1_ENST00000395275.2_Silent_p.S115S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13808	0.0		0.0	False		,,,				2504	0.0					ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(343-345)agC>agT		calneuron 1		G	,	0,4406		0,0,2203	77	59	65		219,345	-6.3	0.1	7	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CALN1	NM_001017440.2,NM_031468.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	73/220,115/262	71571179	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571179G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.219C>T	7.37:g.71571179G>A						CALN1_ENST00000329008.5_Silent_p.S73S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000405452.2_Silent_p.S73S	p.S115S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			4	733	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	73					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.345C>T	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		10	33	0	0	0	1	0	10	33					A	71571179	G	A	71571179	2	1	305	1	0	0	0	0	0	0	0	1	2591	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	16360099	71571179	87567484	21	30933											
LEP	3952	broad.mit.edu	37	chr7	127892092	127892092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcattggggaaccctgtgCggattcttgtggctttggcc	14	9	1	0	rs201523305		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	ENST00000308868.4	+	2	72	c.21C>T	c.(19-21)tgC>tgT	p.C7C		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	7					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488																																						ENST00000308868.4																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(19-21)tgC>tgT		leptin		C		0,4406		0,0,2203	258	225	236		21	0	0	7		236	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LEP	NM_000230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/168	127892092	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3952				adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space		g.chr7:127892092C>T		CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"leptin (murine obesity homolog)", "leptin (obesity homolog, mouse)"	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.21C>T	7.37:g.127892092C>T							p.C7C	NM_000230.2	NP_000221.1	P41159	LEP_HUMAN			2	72	+			7					O15158|Q56A88	Silent	SNP	ENST00000308868.4	37	c.21C>T	CCDS5800.1																																																																																				0.488	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1			19	87	0	0	0	1	0	19	87					T	127892092	C	T	127892092	2	4	305	1	0	0	0	0	0	0	0	1	8727	776	27	1		1	LEP	7	127892092	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	56320913	127892092	31246571	22	30934											
B4GALT1	2683	broad.mit.edu	37	chr9	33135343	33135343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgggggcatagcggccGcccatcttcacatttgggtt	12	13	2	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	ENST00000379731.4	-	2	678	c.492C>T	c.(490-492)ggC>ggT	p.G164G	B4GALT1_ENST00000535206.1_Silent_p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	164					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(490-492)ggC>ggT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						92	79	83					9																	33135343		2203	4300	6503	SO:0001819	synonymous_variant	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135343G>A	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.492C>T	9.37:g.33135343G>A						B4GALT1_ENST00000535206.1_Silent_p.G164G	p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	678	-			164					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Silent	SNP	ENST00000379731.4	37	c.492C>T	CCDS6535.1																																																																																				0.557	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		12	32	0	0	0	1	0	12	32					A	33135343	G	A	33135343	2	1	305	1	0	0	0	0	0	0	0	1	1270	1074	38	1		1	B4GALT1	9	33135343	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		33135343	108078088	23	30935											
FAM75C1	441452	broad.mit.edu	37	chr9	90535986	90535986	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtagcttgccctgcgtcGcagaataaagtgcaagctct	12	10	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:90535986G>A	ENST00000602681.1	+	0	1890							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCTGCGTCGCAGAATAAAG	0.517																																						ENST00000602681.1																			0																				20	17	18					9																	90535986		692	1591	2283			0							g.chr9:90535986G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535986G>A														0	1890	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		52	158	0	0	0	1	0	52	158					A	90535986	G	A	90535986	1	1	305	0	1	0	0	0	0	0	0	0	5623	1074	38	1		1	FAM75C1	9	90535986	RNA	SNP	G	TCGA-HT-8110-01A-11D-2395-08	57400643	90535986	50677445	24	30936											
C5	727	broad.mit.edu	37	chr9	123812513	123812513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaaaaacaaagtattccCaaaaggcccatggttggagg	9	7	0	0	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	ENST00000223642.1	-	1	41	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	4					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)	AAAGTATTCCCAAAAGGCCCA	0.373																																						ENST00000223642.1																			0				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						c.(10-12)ttG>ttA		complement component 5	Eculizumab(DB01257)						131	136	134					9																	123812513		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123812513C>T	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.12G>A	9.37:g.123812513C>T							p.L4L	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	1	41	-			4					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.12G>A	CCDS6826.1																																																																																				0.373	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		19	44	0	0	0	1	0	19	44					T	123812513	C	T	123812513	2	4	305	1	0	0	0	0	0	0	0	1	2280	593	21	2		2	C5	9	123812513	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	33276527	123812513	17400918	25	30937											
RABEPK	10244	broad.mit.edu	37	chr9	127996226	127996226	+	Frame_Shift_Del	DEL	C	C	-													atgaatacagaaggggaaatCtatgacgattgtattgtgac							TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	ENST00000373538.3	+	8	1396	c.1086delC	c.(1084-1086)atcfs	p.I362fs	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs|RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	362					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						AAGGGGAAATCTATGACGATT	0.388																																						ENST00000373538.3																			0				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						c.(1084-1086)atfs		Rab9 effector protein with kelch motifs							210	204	206					9																	127996226		2203	4300	6503	SO:0001589	frameshift_variant	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996226delC	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.1086delC	9.37:g.127996226delC	ENSP00000362639:p.Ile362fs					RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs	p.I362fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			8	1396	+			362					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Frame_Shift_Del	DEL	ENST00000373538.3	37	c.1086delC	CCDS6862.1																																																																																				0.388	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		32	90						32	90	---	---	---	---	-	127996226	C	-	127996226	7	5	305	1	0	1	0	1	0	0	0	0	12963	903	32	0	1112	0	RABEPK	9	127996226	Frame_Shift_Del	DEL	C	TCGA-HT-8110-01A-11D-2395-08	4183713	127996226	13217205	26	30938											
PLCE1	51196	broad.mit.edu	37	chr10	96053387	96053387	+	Frame_Shift_Del	DEL	T	T	-													cagcatcatttaacaaaacaTctggaaaaagtaaagtcact							TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	ENST00000371380.3	+	22	5393	c.5158delT	c.(5158-5160)tctfs	p.S1720fs	PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000260766.3_Frame_Shift_Del_p.S1720fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1720	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. {ECO:0000250}.				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)				TAACAAAACATCTGGAAAAAG	0.388																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5158-5160)ctfs		phospholipase C, epsilon 1							94	93	93					10																	96053387		1857	4097	5954	SO:0001589	frameshift_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96053387delT		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.5158delT	10.37:g.96053387delT	ENSP00000360431:p.Ser1720fs					PLCE1_ENST00000371380.2_Frame_Shift_Del_p.S1720fs|PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs	p.S1720fs	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			23	5792	+		Colorectal(252;0.0458)	1720			Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Del	DEL	ENST00000371380.3	37	c.5158delT	CCDS41552.1																																																																																				0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		11	25						11	25	---	---	---	---	-	96053387	T	-	96053387	7	5	305	1	0	1	0	1	0	0	0	0	12034	1435	50	0	5530	0	PLCE1	10	96053387	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08		96053387	39481360	27	30939											
IFITM1	8519	broad.mit.edu	37	chr11	314978	314978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcctatgcctccacCgccaagtgcctgaacatctg	9	17	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	ENST00000408968.3	+	2	561	c.243C>T	c.(241-243)acC>acT	p.T81T	IFITM1_ENST00000328221.5_Silent_p.T81T|IFITM1_ENST00000528780.1_Silent_p.T81T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	81					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(241-243)acC>acT		interferon induced transmembrane protein 1							86	85	86					11																	314978		1904	4108	6012	SO:0001819	synonymous_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314978C>T	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.243C>T	11.37:g.314978C>T						IFITM1_ENST00000328221.5_Silent_p.T81T|IFITM1_ENST00000528780.1_Silent_p.T81T	p.T81T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	561	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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)	81					Q15322|Q53XZ0	Silent	SNP	ENST00000408968.3	37	c.243C>T	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	C	1.895	-0.454621	0.04540	.	.	ENSG00000185201;ENSG00000185885	ENST00000399815;ENST00000452428	.	.	.	3.65	-7.3	0.01446	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.24552	N	0.994017	.	.	.	.	.	.	T	0.50083	-0.8869	5	0.72032	D	0.01	.	6.3912	0.21587	0.1302:0.2529:0.0:0.6169	.	.	.	.	C	30;83	.	ENSP00000390466:R83C	R	+	1	0	IFITM1;IFITM2	304978	0.004000	0.15560	0.891000	0.34965	0.186000	0.23388	-2.766000	0.00782	-1.401000	0.02058	-1.088000	0.02184	CGC		0.572	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		16	51	0	0	0	1	0	16	51					T	314978	C	T	314978	2	4	305	1	0	0	0	0	0	0	0	1	7526	639	23	1		1	IFITM1	11	314978	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		314978	134691538	28	30940											
NTN4	59277	broad.mit.edu	37	chr12	96181099	96181099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgacaagtcagatccGtgttctcactgtagaagcag	11	11	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	ENST00000343702.4	-	2	651	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_ENST00000538383.1_Missense_Mutation_p.T31M|NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000344911.4_Missense_Mutation_p.T31M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	68	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.			T -> K (in Ref. 1; AAG30822). {ECO:0000305}.	axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(202-204)aCg>aTg		netrin 4							124	93	104					12																	96181099		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96181099G>A	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.203C>T	12.37:g.96181099G>A	ENSP00000340998:p.Thr68Met					NTN4_ENST00000344911.4_Missense_Mutation_p.T31M|NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000538383.1_Missense_Mutation_p.T31M	p.T68M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			2	651	-			68	T -> K (in Ref. 1; AAG30822).		Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.203C>T	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811480	0.50527	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.77	4.88	0.63580	Laminin, N-terminal (3);	0.470192	0.23349	N	0.049147	T	0.66376	0.2783	L	0.36672	1.1	0.23376	N	0.997809	P;P	0.49961	0.914;0.93	B;B	0.43916	0.42;0.436	T	0.60265	-0.7297	10	0.44086	T	0.13	.	10.7911	0.46434	0.1441:0.0:0.8559:0.0	.	68;68	Q9HB63-2;Q9HB63	.;NET4_HUMAN	M	68;31;31;68;31	ENSP00000340998:T68M;ENSP00000339436:T31M;ENSP00000444432:T31M;ENSP00000447292:T68M;ENSP00000447594:T31M	ENSP00000340998:T68M	T	-	2	0	NTN4	94705230	0.059000	0.20769	0.202000	0.23494	0.743000	0.42351	2.462000	0.45049	1.439000	0.47511	0.555000	0.69702	ACG		0.537	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		11	39	0	0	0	1	0	11	39					A	96181099	G	A	96181099	3	1	305	1	0	0	0	0	1	0	0	0	10702	1145	40	1	1719	1	NTN4	12	96181099	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		96181099	37670796	29	30941											
ACADS	35	broad.mit.edu	37	chr12	121176335	121176335	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccagggcggtccccacaGcaaaccctggacatgggccg	13	15	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	ENST00000242592.4	+	7	946		c.e7-1		ACADS_ENST00000411593.2_Splice_Site|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain						butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GGTCCCCACAGCAAACCCTGG	0.682																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.e7-1		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						29	33	32					12																	121176335		2203	4299	6502	SO:0001630	splice_region_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176335G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.796-1G>A	12.37:g.121176335G>A						ACADS_ENST00000411593.2_Splice_Site		NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			7	946	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)						P78331	Splice_Site	SNP	ENST00000242592.4	37		CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856189	0.91355	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.206	0.89854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADS	119660718	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.465000	0.97660	2.314000	0.78098	0.561000	0.74099	.		0.682	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	Intron	10	34	0	0	0	1	0	10	34					A	121176335	G	A	121176335	5	1	305	1	0	0	0	0	0	0	1	0	114	985	34	2	821	2	ACADS	12	121176335	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08	24995236	121176335	12675560	30	30942											
F7	2155	broad.mit.edu	37	chr13	113770051	113770051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccacacgggcaccaagCgctcctgtcggtgccacgag	13	15	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	ENST00000375581.3	+	6	543	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_ENST00000346342.3_Missense_Mutation_p.R148C|F7_ENST00000541084.1_Missense_Mutation_p.R101C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	170	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM004521	F7	M		c.(508-510)Cgc>Tgc		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						65	54	58					13																	113770051		2203	4300	6503	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113770051C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.508C>T	13.37:g.113770051C>T	ENSP00000364731:p.Arg170Cys					F7_ENST00000346342.3_Missense_Mutation_p.R148C|F7_ENST00000541084.1_Missense_Mutation_p.R101C	p.R170C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		6	543	+	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	170			EGF-like 2.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.508C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318682	0.23994	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.92199	-2.99;-2.85;-2.99	4.3	3.46	0.39613	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.95114	3.625	0.28189	N	0.927829	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.71414	0.961;0.911;0.973;0.941	D	0.91530	0.5241	10	0.37606	T	0.19	.	10.488	0.44733	0.0:0.9096:0.0:0.0904	.	101;101;148;170	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	C	148;101;170	ENSP00000329546:R148C;ENSP00000442051:R101C;ENSP00000364731:R170C	ENSP00000329546:R148C	R	+	1	0	F7	112818052	0.728000	0.28080	0.833000	0.33012	0.021000	0.10359	1.287000	0.33284	1.017000	0.39495	-0.251000	0.11542	CGC		0.617	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		8	27	0	0	0	1	0	8	27					T	113770051	C	T	113770051	3	4	305	1	0	0	0	0	1	0	0	0	5349	768	27	1	530	1	F7	13	113770051	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		113770051	1399827	31	30943											
KCNK10	54207	broad.mit.edu	37	chr14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccggccccttcaggcGcaggttgttgggccggttgt	15	13	1	0	rs373732858		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C|KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1270-1272)Cgc>Tgc		potassium channel, subfamily K, member 10		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	66	69	68		1270,1285,1285	5.7	1	14		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	180,180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	424/539,429/544,429/544	88652226	2,13004	2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652226G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1270C>T	14.37:g.88652226G>A	ENSP00000343104:p.Arg424Cys					KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C|KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C	p.R424C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			7	1721	-			424					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1270C>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106321	0.56291	0.0	2.33E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92965	-3.13;-3.13;-3.14	5.71	5.71	0.89125	.	0.225317	0.42294	D	0.000726	D	0.92443	0.7601	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60609	0.828;0.818;0.877	D	0.91415	0.5154	10	0.39692	T	0.17	.	13.7785	0.63069	0.0:0.0:0.8468:0.1532	.	424;429;429	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	C	424;429;429	ENSP00000343104:R424C;ENSP00000310568:R429C;ENSP00000312811:R429C	ENSP00000310568:R429C	R	-	1	0	KCNK10	87721979	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.823000	0.69272	2.709000	0.92574	0.655000	0.94253	CGC		0.607	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		19	39	0	0	0	1	0	19	39					A	88652226	G	A	88652226	3	1	305	1	0	0	0	0	1	0	0	0	8059	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		88652226	18697314	32	30944											
TGM7	116179	broad.mit.edu	37	chr15	43574758	43574758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccagaacctgccacccGttgtatcctggtgggagatc	13	12	0	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	ENST00000452443.2	-	8	1069	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	355					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1063-1065)aaC>aaT		transglutaminase 7	L-Glutamine(DB00130)						84	72	76					15																	43574758		2202	4299	6501	SO:0001819	synonymous_variant	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574758G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1065C>T	15.37:g.43574758G>A							p.N355N	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	8	1069	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	355						Silent	SNP	ENST00000452443.2	37	c.1065C>T	CCDS32213.1																																																																																				0.562	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	6	0	0	0	1	0	3	6					A	43574758	G	A	43574758	2	1	305	1	0	0	0	0	0	0	0	1	15832	1136	40	1		1	TGM7	15	43574758	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		43574758	58956634	33	30945											
SCAPER	49855	broad.mit.edu	37	chr15	77064287	77064287	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcacatcatccaatgtactCactgtgaactaacaaaacgt	4	11	3	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	ENST00000563290.1	-	10	1139	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	SCAPER_ENST00000324767.7_Silent_p.V348V|SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000538941.2_Silent_p.V102V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	348						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						CCAATGTACTCACTGTGAACT	0.338																																						ENST00000538941.2																			0				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						c.(304-306)gtG>gtA		S-phase cyclin A-associated protein in the ER							91	86	88					15																	77064287		1847	4097	5944	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77064287C>T	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.1044G>A	15.37:g.77064287C>T						SCAPER_ENST00000324767.7_Silent_p.V348V|SCAPER_ENST00000563290.1_Silent_p.V348V	p.V102V	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			10	1245	-			347					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.306G>A	CCDS53962.1																																																																																				0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		7	28	0	0	0	1	0	7	28					T	77064287	C	T	77064287	2	4	305	1	0	0	0	0	0	0	0	1	13878	813	29	2		2	SCAPER	15	77064287	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	33489529	77064287	25467105	34	30946											
CREBBP	1387	broad.mit.edu	37	chr16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgaggaaggcgtcgcGcccatccatgaggtcacagc	16	11	1	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity). {ECO:0000269|PubMed:12566391, ECO:0000269|PubMed:15706485}.		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.R1664C(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)		AAGGCGTCGCGCCCATCCATG	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		1	Substitution - Missense(1)	p.R1664C(1)	urinary_tract(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						c.(4990-4992)Cgc>Tgc		CREB binding protein							60	41	48					16																	3781375		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781375G>A	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.4990C>T	16.37:g.3781375G>A	ENSP00000262367:p.Arg1664Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	p.R1664C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5799	-		Ovarian(90;0.0266)	1664		R -> H (in RSTS1; abolishes acetyltransferase activity).	Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4990C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042873	0.55003	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93189	-3.18;-3.08	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.97498	0.9181	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.98070	1.0398	10	0.87932	D	0	-23.3927	14.9919	0.71396	0.0:0.0:0.8575:0.1425	.	1694;1664	Q4LE28;Q92793	.;CBP_HUMAN	C	1664;1694;1626;199	ENSP00000262367:R1664C;ENSP00000371502:R1626C	ENSP00000262367:R1664C	R	-	1	0	CREBBP	3721376	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.495000	0.60353	2.780000	0.95670	0.655000	0.94253	CGC		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	17	0	0	0	1	0	6	17					A	3781375	G	A	3781375	3	1	305	1	0	0	0	0	1	0	0	0	3861	1087	38	1	2346	1	CREBBP	16	3781375	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		3781375	86573378	35	30947											
CACNG3	10368	broad.mit.edu	37	chr16	24373167	24373167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataataatccggccaacaggCgcaccacgcccgtctgaact	8	15	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	ENST00000005284.3	+	4	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R311C(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCCAACAGGCGCACCACGCC	0.562																																						ENST00000005284.3																			1	Substitution - Missense(1)	p.R311C(1)	prostate(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(931-933)Cgc>Tgc		calcium channel, voltage-dependent, gamma subunit 3							47	48	48					16																	24373167		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373167C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.931C>T	16.37:g.24373167C>T	ENSP00000005284:p.Arg311Cys						p.R311C	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2133	+			311						Missense_Mutation	SNP	ENST00000005284.3	37	c.931C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999709	0.74818	.	.	ENSG00000006116	ENST00000005284	T	0.65178	-0.14	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82643	-0.0356	10	0.87932	D	0	-12.9989	17.8078	0.88607	0.0:1.0:0.0:0.0	.	311	O60359	CCG3_HUMAN	C	311	ENSP00000005284:R311C	ENSP00000005284:R311C	R	+	1	0	CACNG3	24280668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.609000	0.61148	2.266000	0.75297	0.645000	0.84053	CGC		0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		13	41	0	0	0	1	0	13	41					T	24373167	C	T	24373167	3	4	305	1	0	0	0	0	1	0	0	0	2558	768	27	1	945	1	CACNG3	16	24373167	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	20591792	24373167	65981586	36	30948											
ADCY7	113	broad.mit.edu	37	chr16	50325794	50325794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcacgacacccagtgtcCgggtggggctgcaggtgagg	17	11	1	1	rs199712113		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	ENST00000394697.2	+	4	863	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W|ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	175					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)		ACCCAGTGTCCGGGTGGGGCT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17373	0.0		0.001	False		,,,				2504	0.0					ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(523-525)Cgg>Tgg		adenylate cyclase 7	Bromocriptine(DB01200)	C	TRP/ARG	0,4396		0,0,2198	52	51	51		523	0.1	0	16		51	3,8597	2.2+/-6.3	0,3,4297	no	missense	ADCY7	NM_001114.3	101	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	benign	175/1081	50325794	3,12993	2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50325794C>T	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.523C>T	16.37:g.50325794C>T	ENSP00000378187:p.Arg175Trp					ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W	p.R175W			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	4	863	+		all_cancers(37;0.0127)	175					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.523C>T	CCDS10741.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.221	0.802474	0.16397	0.0	3.49E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.82081	-1.07;-1.57;-1.1;-1.57	3.24	0.0766	0.14404	.	2.312940	0.03243	U	0.180657	T	0.64832	0.2634	N	0.14661	0.345	0.09310	N	1	P;D	0.53151	0.84;0.958	B;B	0.38683	0.065;0.279	T	0.60850	-0.7181	10	0.37606	T	0.19	.	0.6173	0.00771	0.1975:0.3734:0.1934:0.2357	.	175;175	P51828;F5H4D1	ADCY7_HUMAN;.	W	175	ENSP00000445046:R175W;ENSP00000378187:R175W;ENSP00000437788:R175W;ENSP00000254235:R175W	ENSP00000254235:R175W	R	+	1	2	ADCY7	48883295	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.497000	0.00969	0.049000	0.15920	0.561000	0.74099	CGG		0.652	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			12	32	0	0	0	1	0	12	32					T	50325794	C	T	50325794	3	4	305	1	0	0	0	0	1	0	0	0	299	643	23	1	533	1	ADCY7	16	50325794	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	25952627	50325794	40028959	37	30949											
CBFA2T3	863	broad.mit.edu	37	chr16	88967963	88967963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccctgggatgcggcagGcggtgggggcggcatgctgg	22	11	0	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	ENST00000268679.4	-	2	649	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	85	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)		GATGCGGCAGGCGGTGGGGGC	0.701			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(253-255)Cct>Tct		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							17	22	20					16																	88967963		2183	4282	6465	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88967963G>A	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.253C>T	16.37:g.88967963G>A	ENSP00000268679:p.Pro85Ser					CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000448839.1_Intron	p.P85S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	2	649	-			85			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.253C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053770	0.36277	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000360302	T;T;T;T	0.52754	1.4;0.87;0.65;1.4	3.95	3.95	0.45737	.	0.122511	0.56097	N	0.000031	T	0.61961	0.2389	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.998;0.999	T	0.65623	-0.6123	10	0.56958	D	0.05	-12.4356	15.9452	0.79787	0.0:0.0:1.0:0.0	.	85;85;85;24	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	S	24;85;85;24	ENSP00000332122:P24S;ENSP00000268679:P85S;ENSP00000395739:P85S;ENSP00000353449:P24S	ENSP00000268679:P85S	P	-	1	0	CBFA2T3	87495464	1.000000	0.71417	0.024000	0.17045	0.106000	0.19336	7.572000	0.82409	1.918000	0.55548	0.491000	0.48974	CCT		0.701	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		16	35	0	0	0	1	0	16	35					A	88967963	G	A	88967963	3	1	305	1	0	0	0	0	1	0	0	0	2698	1203	42	2	1752	2	CBFA2T3	16	88967963	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	38642169	88967963	1386790	38	30950											
NLRP1	22861	broad.mit.edu	37	chr17	5462410	5462410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgagtttttccttccGcttcatctgctgcatcaggc	9	12	3	1	rs201070268		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	ENST00000572272.1	-	4	1605	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_ENST00000345221.3_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)				TTTTCCTTCCGCTTCATCTGC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17204	0.0		0.001	False		,,,				2504	0.0					ENST00000345221.3																			0				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						c.(1606-1608)Cgg>Tgg		NLR family, pyrin domain containing 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	127	107	114		1606,1606,1606,1606,1606	-5	0	17		114	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	101,101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	536/1376,536/1430,536/1474,536/1444,536/1400	5462410	1,13005	2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462410G>A	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.1606C>T	17.37:g.5462410G>A	ENSP00000460475:p.Arg536Trp					NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W	p.R536W	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2160	-		Colorectal(1115;3.48e-05)	536			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1606C>T	CCDS42246.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.39	2.819604	0.50633	2.27E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.71341	-0.56;-0.56;-0.55;-0.53;-0.55	4.38	-5.04	0.02964	NACHT nucleoside triphosphatase (1);	2.205680	0.02159	N	0.058626	T	0.76126	0.3944	M	0.81682	2.555	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.998	P;P;P;P;P	0.56474	0.799;0.799;0.634;0.799;0.719	T	0.67891	-0.5553	10	0.72032	D	0.01	.	0.5597	0.00677	0.2542:0.129:0.2224:0.3944	.	536;536;536;536;536	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	W	536	ENSP00000442029:R536W;ENSP00000262467:R536W;ENSP00000269280:R536W;ENSP00000346390:R536W;ENSP00000324366:R536W	ENSP00000262467:R536W	R	-	1	2	NLRP1	5403134	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.415000	0.07106	-0.549000	0.06191	-0.948000	0.02665	CGG		0.547	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		28	70	0	0	0	1	0	28	70					A	5462410	G	A	5462410	3	1	305	1	0	0	0	0	1	0	0	0	10471	1086	38	1	2946	1	NLRP1	17	5462410	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		5462410	75732800	39	30951											
PIK3R5	23533	broad.mit.edu	37	chr17	8794082	8794082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgcaggcccgggacGtcacagtgggccccaaaggt	15	13	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	ENST00000447110.1	-	7	754	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_ENST00000584803.1_Silent_p.D210D|PIK3R5_ENST00000581552.1_Silent_p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	210					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(628-630)gaC>gaT		phosphoinositide-3-kinase, regulatory subunit 5							79	68	72					17																	8794082		2203	4299	6502	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8794082G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.630C>T	17.37:g.8794082G>A						PIK3R5_ENST00000581552.1_Silent_p.D210D|PIK3R5_ENST00000584803.1_Silent_p.D210D	p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			7	754	-			210					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.630C>T	CCDS11147.1																																																																																				0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	13	0	0	0	1	0	3	13					A	8794082	G	A	8794082	2	1	305	1	0	0	0	0	0	0	0	1	11922	1136	40	1		1	PIK3R5	17	8794082	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	3331672	8794082	72401128	40	30952											
GSDMB	55876	broad.mit.edu	37	chr17	38073447	38073447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagaaagttctcttctcCcccaccagatggaagcagcg	8	14	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	ENST00000394179.1	-	2	253	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G|GSDMB_ENST00000394175.2_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000360317.3_Silent_p.G41G			Q8TAX9	GSDMB_HUMAN	gasdermin B	41						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(121-123)ggG>ggA		gasdermin B							204	184	191					17																	38073447		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073447C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"gasdermin-like"	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.123G>A	17.37:g.38073447C>T						GSDMB_ENST00000360317.3_Silent_p.G41G|GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000394179.1_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G	p.G41G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			1	346	-			41					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.123G>A																																																																																					0.483	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		31	83	0	0	0	1	0	31	83					T	38073447	C	T	38073447	2	4	305	1	0	0	0	0	0	0	0	1	6817	610	22	2		2	GSDMB	17	38073447	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	29279365	38073447	43121763	41	30953											
SHD	56961	broad.mit.edu	37	chr19	4284902	4284902	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggagaaacagccGtgagtggggaagctgaaggt	16	9	0	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	ENST00000543264.2	+	4	2179		c.e4+1		SHD_ENST00000599689.1_Splice_Site|SHD_ENST00000600475.1_Splice_Site	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D											breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.e4+1		Src homology 2 domain containing transforming protein D							39	45	43					19																	4284902		2203	4299	6502	SO:0001630	splice_region_variant	56961							g.chr19:4284902G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.716+1G>A	19.37:g.4284902G>A						SHD_ENST00000600475.1_Splice_Site|SHD_ENST00000599689.1_Splice_Site		NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	4	2179	+								Q96NC2	Splice_Site	SNP	ENST00000543264.2	37		CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609073	0.87258	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5886	0.68347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHD	4235902	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.194000	0.89721	2.306000	0.77630	0.491000	0.48974	.		0.587	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209	Intron	23	43	0	0	0	1	0	23	43					A	4284902	G	A	4284902	5	1	305	1	0	0	0	0	0	0	1	0	14275	1159	40	1	731	1	SHD	19	4284902	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08		4284902	54844081	42	30954											
SPATA2	9825	broad.mit.edu	37	chr20	48522793	48522793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggtggaagcacatccGggctgccgtggggggagctg	21	9	0	0	rs183875038		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	ENST00000422556.1	-	3	1275	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L|SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	309					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14573	0.0		0.001	False		,,,				2504	0.0					ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(925-927)cCg>cTg		spermatogenesis associated 2							41	46	44					20																	48522793		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522793G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.926C>T	20.37:g.48522793G>A	ENSP00000416799:p.Pro309Leu					SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L|SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L	p.P309L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1275	-	Hepatocellular(150;0.133)		309					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.926C>T	CCDS13422.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.65	1.410809	0.25465	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.49432	0.79;0.79;0.78	4.67	4.67	0.58626	.	0.558066	0.17491	N	0.172352	T	0.39489	0.1080	L	0.43152	1.355	0.38942	D	0.958165	B	0.31680	0.335	B	0.28465	0.09	T	0.31447	-0.9943	10	0.10636	T	0.68	-35.1994	17.7489	0.88428	0.0:0.0:1.0:0.0	.	309	Q9UM82	SPAT2_HUMAN	L	309;309;172	ENSP00000289431:P309L;ENSP00000416799:P309L;ENSP00000438855:P172L	ENSP00000289431:P309L	P	-	2	0	SPATA2	47956200	1.000000	0.71417	0.796000	0.32109	0.079000	0.17450	5.911000	0.69939	2.408000	0.81797	0.505000	0.49811	CCG		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		30	65	0	0	0	1	0	30	65					A	48522793	G	A	48522793	3	1	305	1	0	0	0	0	1	0	0	0	15004	1116	39	1	640	1	SPATA2	20	48522793	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		48522793	14502727	43	30955											
CBLN4	140689	broad.mit.edu	37	chr20	54579018	54579018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccgccgagaaggcgacCttggagttggccgcccggac	15	15	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	ENST00000064571.2	-	1	1510	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	70	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(208-210)aaG>aaA		cerebellin 4 precursor							111	116	114					20																	54579018		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54579018C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.210G>A	20.37:g.54579018C>T							p.K70K	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1510	-			70			C1q.		A8K0S5	Silent	SNP	ENST00000064571.2	37	c.210G>A	CCDS13448.1																																																																																				0.637	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		36	104	0	0	0	1	0	36	104					T	54579018	C	T	54579018	2	4	305	1	0	0	0	0	0	0	0	1	2707	680	24	2		2	CBLN4	20	54579018	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6056225	54579018	8446502	44	30956											
LAMA5	3911	broad.mit.edu	37	chr20	60895628	60895628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcctggccgcctagcCgccgtgcgtcctgcccgagg	13	19	0	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	ENST00000252999.3	-	50	6812	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2249	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCGCCTAGCCGCCGTGCGTC	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6745-6747)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						8	10	9					20																	60895628		2132	4224	6356	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895628C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6746G>A	20.37:g.60895628C>T	ENSP00000252999:p.Arg2249Gln						p.R2249Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		50	6812	-	Breast(26;1.57e-08)		2249			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6746G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	7.273	0.607523	0.14002	.	.	ENSG00000130702	ENST00000252999	T	0.09723	2.95	4.23	-8.47	0.00939	Laminin I (1);	1.655650	0.03769	N	0.259495	T	0.07593	0.0191	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24297	-1.0164	10	0.14656	T	0.56	.	12.3952	0.55380	0.0869:0.2099:0.0:0.7032	.	2249	O15230	LAMA5_HUMAN	Q	2249	ENSP00000252999:R2249Q	ENSP00000252999:R2249Q	R	-	2	0	LAMA5	60329023	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.627000	0.00206	-2.707000	0.00395	-2.235000	0.00290	CGG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	6	0	0	0	1	0	4	6					T	60895628	C	T	60895628	3	4	305	1	0	0	0	0	1	0	0	0	8609	652	23	1	4465	1	LAMA5	20	60895628	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6316610	60895628	2129892	45	30957											
TRPM2	7226	broad.mit.edu	37	chr21	45817649	45817649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaggactgcatcgcagCggccttggcctgcagcaaga	14	13	0	1	rs149619816		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	ENST00000397928.1	+	13	2397	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	651					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						TGCATCGCAGCGGCCTTGGCC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19391	0.0		0.0	False		,,,				2504	0.0					ENST00000397928.1																			0				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						c.(1951-1953)gCg>gTg		transient receptor potential cation channel, subfamily M, member 2		C	VAL/ALA	7,4393	12.9+/-30.5	0,7,2193	49	41	44		1952	4.8	0	21	dbSNP_134	44	0,8588		0,0,4294	yes	missense	TRPM2	NM_003307.3	64	0,7,6487	TT,TC,CC		0.0,0.1591,0.0539	probably-damaging	651/1504	45817649	7,12981	2200	4294	6494	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45817649C>T	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.1952C>T	21.37:g.45817649C>T	ENSP00000381023:p.Ala651Val					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V	p.A651V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			13	2397	+			651					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1952C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846215	0.91277	0.001591	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.992;0.999	D	0.88623	0.3164	10	0.72032	D	0.01	-22.9909	17.8764	0.88826	0.0:1.0:0.0:0.0	.	651;437;651	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	V	651;651;631;651	ENSP00000300482:A651V;ENSP00000381023:A651V;ENSP00000300481:A631V;ENSP00000381026:A651V	ENSP00000300481:A631V	A	+	2	0	TRPM2	44642077	1.000000	0.71417	0.045000	0.18777	0.925000	0.55904	4.436000	0.59948	2.206000	0.71126	0.585000	0.79938	GCG		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		7	17	0	0	0	1	0	7	17					T	45817649	C	T	45817649	3	4	305	1	0	0	0	0	1	0	0	0	16583	768	27	1	2002	1	TRPM2	21	45817649	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45817649	2312246	46	30958											
P2RX6	9127	broad.mit.edu	37	chr22	21380124	21380124	+	Frame_Shift_Del	DEL	T	T	-													cactggtgggagcaaccgggTgtggaggcccgcaccctgct							TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	ENST00000413302.2	+	9	1069	c.921delT	c.(919-921)ggtfs	p.G307fs	P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	307					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										AGCAACCGGGTGTGGAGGCCC	0.657																																						ENST00000413302.2																			0											c.(919-921)ggfs		purinergic receptor P2X, ligand-gated ion channel, 6							39	32	35					22																	21380124		2178	4265	6443	SO:0001589	frameshift_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380124delT		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.921delT	22.37:g.21380124delT	ENSP00000416193:p.Gly307fs					P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs	p.G307fs			O15547	P2RX6_HUMAN			9	1069	+			307					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Frame_Shift_Del	DEL	ENST00000413302.2	37	c.921delT	CCDS13788.2																																																																																				0.657	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		2	4						2	4	---	---	---	---	-	21380124	T	-	21380124	7	5	305	1	0	1	0	1	0	0	0	0	11344	1683	59	0	955	0	P2RX6	22	21380124	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08		21380124	29924442	47	30959											
PCDH11X	27328	broad.mit.edu	37	chrX	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctggcaccataactgtcGttgtagttattttcatcact	7	9	2	0	rs377250651		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					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						CATAACTGTCGTTGTAGTTAT	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				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						c.(2473-2475)Gtt>Att		protocadherin 11 X-linked		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3834		0,1,1631,571	52	45	48		2473,2473,2473,2473,2473,2473,2473,2473	-0.9	0	X		48	0,6719		0,0,2425,1869	no	missense,missense,missense,missense,missense,missense,missense,missense	PCDH11X	NM_032969.3,NM_032968.3,NM_032967.2,NM_014522.1,NM_001168363.1,NM_001168362.1,NM_001168361.1,NM_001168360.1	29,29,29,29,29,29,29,29	0,1,4056,2440	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign,benign,benign	825/1338,825/1348,825/1026,825/1022,825/1330,825/1311,825/1066,825/1340	91133712	1,10553	2203	4294	6497	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133712G>A	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.2473G>A	X.37:g.91133712G>A	ENSP00000362186:p.Val825Ile					PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I	p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3318	+			825					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2473G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.097495	0.00034	2.61E-4	0.0	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.15	-0.908	0.10517	Protocadherin (1);	0.222920	0.44097	N	0.000483	T	0.05090	0.0136	N	0.00583	-1.355	0.24408	N	0.994678	B;B;B;B;B;B;B;B	0.12013	0.004;0.004;0.004;0.004;0.004;0.005;0.004;0.002	B;B;B;B;B;B;B;B	0.11329	0.003;0.003;0.003;0.003;0.003;0.006;0.003;0.003	T	0.42982	-0.9419	10	0.02654	T	1	.	9.8467	0.41032	0.6433:0.0:0.3567:0.0	.	825;825;825;825;825;825;825;825	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	825	ENSP00000378746:V825I;ENSP00000362186:V825I;ENSP00000362189:V825I;ENSP00000355040:V825I;ENSP00000362180:V825I;ENSP00000423762:V825I;ENSP00000355105:V825I;ENSP00000384758:V825I;ENSP00000298274:V825I	ENSP00000298274:V825I	V	+	1	0	PCDH11X	91020368	0.848000	0.29623	0.031000	0.17742	0.033000	0.12548	1.274000	0.33132	-0.109000	0.12044	-0.365000	0.07479	GTT		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		21	13	0	0	0	1	0	21	13					A	91133712	G	A	91133712	3	1	305	1	0	0	0	0	1	0	0	0	11508	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		91133712	64136848	48	30960											
IL22RA1	58985	broad.mit.edu	37	chr1	24460805	24460805	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcacggattggcgtggGggtaggatgaacaatcatct	15	8	2	1	rs551283023		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:24460805G>C	ENST00000270800.1	-	4	465	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	143	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)		ATTGGCGTGGGGGTAGGATGA	0.522																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(427-429)Ccc>Gcc		interleukin 22 receptor, alpha 1							112	100	104					1																	24460805		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24460805G>C	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.427C>G	1.37:g.24460805G>C	ENSP00000270800:p.Pro143Ala						p.P143A	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		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)	4	465	-		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)	143			Fibronectin type-III 2.		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.427C>G	CCDS247.1	.	.	.	.	.	.	.	.	.	.	G	4.107	0.017921	0.07959	.	.	ENSG00000142677	ENST00000270800	T	0.40756	1.02	4.98	1.51	0.23008	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.974042	0.08465	N	0.941892	T	0.21590	0.0520	N	0.14661	0.345	0.09310	N	1	B;B	0.18166	0.026;0.003	B;B	0.20577	0.03;0.008	T	0.30504	-0.9976	10	0.13470	T	0.59	-0.4343	3.582	0.07957	0.1977:0.0:0.5598:0.2426	.	35;143	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	143	ENSP00000270800:P143A	ENSP00000270800:P143A	P	-	1	0	IL22RA1	24333392	0.000000	0.05858	0.352000	0.25734	0.513000	0.34164	0.172000	0.16704	0.368000	0.24481	0.561000	0.74099	CCC		0.522	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			12	48	0	0	0	1	0	12	48					C	24460805	G	C	24460805	3	2	306	1	0	0	0	0	1	0	0	0	7673	1232	43	4	1313	4	IL22RA1	1	24460805	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		24460805	224789816	1	30961											
SPAG17	200162	broad.mit.edu	37	chr1	118554864	118554874	+	Frame_Shift_Del	DEL	ATCTGGCAGAA	ATCTGGCAGAA	-													aacatacttgtttcttgatcAtctggcagaataatttgatc							TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:118554864_118554874delATCTGGCAGAA	ENST00000336338.5	-	30	4474_4484	c.4409_4419delTTCTGCCAGAT	c.(4408-4419)attctgccagatfs	p.ILPD1470fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1470						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)		TTTCTTGATCATCTGGCAGAATAATTTGATC	0.336																																						ENST00000336338.5																			0				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						c.(4408-4419)afs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554864_118554874delATCTGGCAGAA		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.4409_4419delTTCTGCCAGAT	1.37:g.118554864_118554874delATCTGGCAGAA	ENSP00000337804:p.Ile1470fs						p.ILPD1470fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4474_4484	-	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)	1470					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.4409_4419delTTCTGCCAGAT	CCDS899.1																																																																																				0.336	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	40						7	40	---	---	---	---	-	118554874	ATCTGGCAGAA	-	118554864	7	5	306	1	0	1	0	1	0	0	0	0	14979	214	8	0	2328	0	SPAG17	1	118554864	Frame_Shift_Del	DEL	ATCTGGCAGAA	TCGA-HT-8111-01A-11D-2395-08	94094059	118554864	130695757	2	30962											
ZNF281	23528	broad.mit.edu	37	chr1	200378559	200378559	+	Frame_Shift_Del	DEL	G	G	-													tcatgtccggggctggcggaGgggggggctcagcggccggg							TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:200378559delG	ENST00000294740.3	-	2	399	c.275delC	c.(274-276)cctfs	p.P94fs	ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs|ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	94	Poly-Pro.				embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|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)|transcription regulatory region DNA binding (GO:0044212)	p.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCTGGCGGAGGGGGGGGCTC	0.706																																						ENST00000294740.2																			1	Insertion - Frameshift(1)	p.P93fs*34(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(274-276)ctfs		zinc finger protein 281				19,2835		5,9,1413	2	2	2			-3.6	1	1		2	67,5707		13,41,2833	no	frameshift	ZNF281	NM_012482.3		18,50,4246	A1A1,A1R,RR		1.1604,0.6657,0.9968			200378559	86,8542	1668	3368	5036	SO:0001589	frameshift_variant	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200378559delG	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.275delC	1.37:g.200378559delG	ENSP00000294740:p.Pro94fs					ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs|ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs	p.P94fs	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	399	-			94			Poly-Pro.		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Frame_Shift_Del	DEL	ENST00000294740.3	37	c.275delC	CCDS1402.1																																																																																				0.706	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		2	4						2	4	---	---	---	---	-	200378559	G	-	200378559	7	5	306	1	0	1	0	1	0	0	0	0	17815	1000	35	0	2416	0	ZNF281	1	200378559	Frame_Shift_Del	DEL	G	TCGA-HT-8111-01A-11D-2395-08	81823695	200378559	48872062	3	30963											
NEB	4703	broad.mit.edu	37	chr2	152534214	152534214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggcctttttaactttttcGacgtcgagactgccaatagg	9	11	0	1	rs74320183	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:152534214G>A	ENST00000172853.10	-	34	3786	c.3639C>T	c.(3637-3639)gtC>gtT	p.V1213V	NEB_ENST00000603639.1_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V|NEB_ENST00000397345.3_Silent_p.V1213V|NEB_ENST00000427231.2_Silent_p.V1213V|NEB_ENST00000604864.1_Silent_p.V1213V			P20929	NEBU_HUMAN	nebulin	1213					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)		TAACTTTTTCGACGTCGAGAC	0.458													G|||	5	0.000998403	0.003	0.0014	5008	,	,		16446	0.0		0.0	False		,,,				2504	0.0					ENST00000427231.2																			0				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						c.(3637-3639)gtC>gtT		nebulin		G	,,	13,3797		0,13,1892	225	214	218		3639,3639,3639	-5.8	0	2	dbSNP_133	218	0,8242		0,0,4121	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,13,6013	AA,AG,GG		0.0,0.3412,0.1079	,,	1213/8526,1213/8526,1213/6670	152534214	13,12039	1905	4121	6026	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534214G>A	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.3639C>T	2.37:g.152534214G>A						NEB_ENST00000604864.1_Silent_p.V1213V|NEB_ENST00000397345.3_Silent_p.V1213V|NEB_ENST00000603639.1_Silent_p.V1213V|NEB_ENST00000172853.10_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V	p.V1213V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3841	-			1213					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3639C>T																																																																																					0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		26	208	0	0	0	1	0	26	208					A	152534214	G	A	152534214	2	1	306	1	0	0	0	0	0	0	0	1	10302	1045	37	1		1	NEB	2	152534214	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08		152534214	90665159	4	30964											
SCN3A	6328	broad.mit.edu	37	chr2	166012411	166012411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtatccttctggacacTggctataagagagagaaatg	11	6	1	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:166012411T>C	ENST00000360093.3	-	10	1525	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	345					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)	TTCTGGACACTGGCTATAAGA	0.408																																						ENST00000360093.3																			0				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						c.(1033-1035)cAg>cGg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						120	115	117					2																	166012411		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166012411T>C	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.1034A>G	2.37:g.166012411T>C	ENSP00000353206:p.Gln345Arg					SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R	p.Q345R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			10	1525	-			345					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1034A>G		.	.	.	.	.	.	.	.	.	.	T	13.68	2.308232	0.40895	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96168	-3.93;-3.92;-3.89;-3.77	5.56	5.56	0.83823	Ion transport (1);	0.534175	0.17499	N	0.172060	D	0.94328	0.8177	L	0.39633	1.23	0.80722	D	1	B;B;B;B;B	0.22003	0.0;0.063;0.051;0.051;0.0	B;B;B;B;B	0.36464	0.001;0.225;0.144;0.144;0.001	D	0.92024	0.5628	10	0.56958	D	0.05	.	15.6989	0.77528	0.0:0.0:0.0:1.0	.	345;345;345;345;345	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	345	ENSP00000353206:Q345R;ENSP00000283254:Q345R;ENSP00000386726:Q345R;ENSP00000403348:Q345R	ENSP00000283254:Q345R	Q	-	2	0	SCN3A	165720657	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	3.254000	0.51477	2.115000	0.64714	0.477000	0.44152	CAG		0.408	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	82	0	0	0	1	0	6	82					C	166012411	T	C	166012411	3	2	306	1	0	0	0	0	1	0	0	0	13918	1580	55	3	5044	3	SCN3A	2	166012411	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08	13478197	166012411	77186962	5	30965											
SSFA2	6744	broad.mit.edu	37	chr2	182780777	182780777	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatcgaccattttcatctctCcatcatctgtgaagaaagaa	5	10	4	3	rs540962657		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:182780777C>G	ENST00000431877.2	+	11	2589	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	804						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2410-2412)Cca>Gca		sperm specific antigen 2							58	61	60					2																	182780777		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780777C>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2410C>G	2.37:g.182780777C>G	ENSP00000388731:p.Pro804Ala					SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A	p.P804A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2589	+			804					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2410C>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068212	0.20067	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.22336	2.2;1.96;2.19;2.18;1.98	5.63	3.82	0.43975	.	0.360553	0.28268	N	0.015962	T	0.19167	0.0460	M	0.69823	2.125	0.39932	D	0.974304	P;P;P;P;P	0.45531	0.767;0.767;0.767;0.767;0.86	B;B;B;B;B	0.41271	0.269;0.269;0.269;0.269;0.352	T	0.20974	-1.0259	10	0.05721	T	0.95	-6.1297	7.9328	0.29912	0.1229:0.6937:0.1184:0.065	.	651;313;804;804;804	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	A	804;804;804;651;313	ENSP00000388731:P804A;ENSP00000314669:P804A;ENSP00000387319:P804A;ENSP00000409867:P651A;ENSP00000386916:P313A	ENSP00000314669:P804A	P	+	1	0	SSFA2	182489022	0.948000	0.32251	0.817000	0.32601	0.273000	0.26683	1.752000	0.38349	0.844000	0.35094	-0.176000	0.13171	CCA		0.502	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		3	56	0	0	0	1	0	3	56					G	182780777	C	G	182780777	3	3	306	1	0	0	0	0	1	0	0	0	15182	855	30	4	2452	4	SSFA2	2	182780777	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	16768366	182780777	60418596	6	30966											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	30	0	0	0	1	0	19	30					T	209113112	C	T	209113112	3	4	306	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	26332335	209113112	34086261	7	30967											
KIAA1109	84162	broad.mit.edu	37	chr4	123107220	123107220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaccaggttatacatcAcagtcaatgactttgaattt	6	8	2	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123107220A>G	ENST00000264501.4	+	7	761	c.388A>G	c.(388-390)Aca>Gca	p.T130A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A			Q2LD37	K1109_HUMAN	KIAA1109	130					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTATACATCACAGTCAATGA	0.333																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(388-390)Aca>Gca		KIAA1109							109	103	105					4																	123107220		1815	4078	5893	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107220A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.388A>G	4.37:g.123107220A>G	ENSP00000264501:p.Thr130Ala					KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A	p.T130A			Q2LD37	K1109_HUMAN			7	761	+			130					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.388A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.988287	0.53934	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.93953	-3.32;-3.32;-3.32	5.19	5.19	0.71726	.	0.134270	0.27052	U	0.021167	D	0.88629	0.6488	L	0.29908	0.895	0.44439	D	0.997364	B	0.22003	0.063	B	0.25614	0.062	D	0.84567	0.0653	10	0.17369	T	0.5	.	15.0365	0.71751	1.0:0.0:0.0:0.0	.	130	Q2LD37	K1109_HUMAN	A	130	ENSP00000264501:T130A;ENSP00000373390:T130A;ENSP00000389925:T130A	ENSP00000264501:T130A	T	+	1	0	KIAA1109	123326670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.282000	0.78630	1.963000	0.57068	0.383000	0.25322	ACA		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		16	56	0	0	0	1	0	16	56					G	123107220	A	G	123107220	3	3	306	1	0	0	0	0	1	0	0	0	8208	159	6	3	406	3	KIAA1109	4	123107220	Missense_Mutation	SNP	A	TCGA-HT-8111-01A-11D-2395-08		123107220	68047056	8	30968											
ADAD1	132612	broad.mit.edu	37	chr4	123336539	123336539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttgctttctaggtgatGggaattgcagtgataccaga	12	5	1	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123336539G>A	ENST00000296513.2	+	11	1440	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R|ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	419	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTAGGTGATGGGAATTGCAG	0.348																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1255-1257)Ggg>Agg		adenosine deaminase domain containing 1 (testis-specific)							84	82	83					4																	123336539		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336539G>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1255G>A	4.37:g.123336539G>A	ENSP00000296513:p.Gly419Arg					ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R|ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R	p.G419R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			11	1440	+			419			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1255G>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327278	0.81690	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93307	-3.2;-3.2;-3.2	5.33	5.33	0.75918	Adenosine deaminase/editase (3);	0.375081	0.26812	N	0.022373	D	0.94892	0.8349	L	0.47716	1.5	0.52099	D	0.999941	B;D	0.76494	0.142;0.999	B;D	0.73380	0.146;0.98	D	0.92260	0.5816	10	0.13470	T	0.59	-3.9126	19.0085	0.92863	0.0:0.0:1.0:0.0	.	408;419	Q96M93-2;Q96M93	.;ADAD1_HUMAN	R	419;408;401	ENSP00000296513:G419R;ENSP00000373376:G408R;ENSP00000373377:G401R	ENSP00000296513:G419R	G	+	1	0	ADAD1	123555989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.324000	0.65863	2.497000	0.84241	0.650000	0.86243	GGG		0.348	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		9	59	0	0	0	1	0	9	59					A	123336539	G	A	123336539	3	1	306	1	0	0	0	0	1	0	0	0	231	1348	47	2	1289	2	ADAD1	4	123336539	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	229319	123336539	67817737	9	30969											
ETFDH	2110	broad.mit.edu	37	chr4	159603573	159603573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagactggaaagagaaGggggtatgaaaaattgtttt	12	4	0	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:159603573G>A	ENST00000511912.1	+	3	734	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ETFDH_ENST00000307738.5_Silent_p.K87K	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	134					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAAAGAGAAGGGGGTATGAA	0.388																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(400-402)aaG>aaA		electron-transferring-flavoprotein dehydrogenase							52	58	56					4																	159603573		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159603573G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.402G>A	4.37:g.159603573G>A						ETFDH_ENST00000307738.5_Silent_p.K87K	p.K134K	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	3	734	+	all_hematologic(180;0.24)	Renal(120;0.0458)	134					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.402G>A	CCDS3800.1																																																																																				0.388	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			21	55	0	0	0	1	0	21	55					A	159603573	G	A	159603573	2	1	306	1	0	0	0	0	0	0	0	1	5271	991	35	2		2	ETFDH	4	159603573	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08	36267034	159603573	31550703	10	30970											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	7	15	2	2	rs200719637		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																						ENST00000305344.4																			2	Substitution - Missense(2)	p.V146I(2)	large_intestine(1)|endometrium(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(436-438)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						108	94	99					6																	87725488		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725488G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile					HTR1E_ENST00000369584.1_Missense_Mutation_p.V146I	p.V146I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	146					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.436G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		8	124	0	0	0	1	0	8	124					A	87725488	G	A	87725488	3	1	306	1	0	0	0	0	1	0	0	0	7439	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		87725488	83389579	11	30971											
MOXD1	26002	broad.mit.edu	37	chr6	132722520	132722520	+	Frame_Shift_Del	DEL	T	T	-													gcccgagccccccgccgccgTcccggggagcagcccccaca					rs577565792	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:132722520delT	ENST00000367963.3	-	1	164	c.46delA	c.(46-48)acgfs	p.T16fs	MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCGCCGCCGTCCCGGGGAGC	0.746																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(46-48)cgfs		monooxygenase, DBH-like 1							4	4	4					6																	132722520		1880	3811	5691	SO:0001589	frameshift_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132722520delT	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.46delA	6.37:g.132722520delT	ENSP00000356940:p.Thr16fs					MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs	p.T16fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	1	164	-	Breast(56;0.0495)		16					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Frame_Shift_Del	DEL	ENST00000367963.3	37	c.46delA	CCDS5152.2																																																																																				0.746	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		2	4						2	4	---	---	---	---	-	132722520	T	-	132722520	7	5	306	1	0	1	0	1	0	0	0	0	9720	1667	58	0	1843	0	MOXD1	6	132722520	Frame_Shift_Del	DEL	T	TCGA-HT-8111-01A-11D-2395-08	44997032	132722520	38392547	12	30972											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	10	0	0	0	1	0	5	10					G	41790659	T	G	41790659	2	3	306	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-HT-8111-01A-11D-2395-08		41790659	104573363	13	30973											
TRPA1	8989	broad.mit.edu	37	chr8	72969169	72969169	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcataaattcaggtcGcagattttttaatccataag	6	8	1	1	rs372339709	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:72969169G>A	ENST00000262209.4	-	10	1384	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	393					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTCAGGTCGCAGATTTTTT	0.294													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14327	0.0		0.0	False		,,,				2504	0.001					ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1177-1179)Cga>Tga		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	G	stop/ARG	0,4398		0,0,2199	39	41	40		1177	3.7	0.8	8		40	1,8581	1.2+/-3.3	0,1,4290	no	stop-gained	TRPA1	NM_007332.2		0,1,6489	AA,AG,GG		0.0117,0.0,0.0077		393/1120	72969169	1,12979	2199	4291	6490	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72969169G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1177C>T	8.37:g.72969169G>A	ENSP00000262209:p.Arg393*						p.R393*	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		10	1384	-			393					A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.1177C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857393	0.71834	0.0	1.17E-4	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.69	3.72	0.42706	.	1.032170	0.07635	N	0.929366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	1.3293	8.6932	0.34280	0.0851:0.0:0.6606:0.2543	.	.	.	.	X	245;393	.	ENSP00000262209:R393X	R	-	1	2	TRPA1	73131723	0.523000	0.26274	0.812000	0.32479	0.529000	0.34654	1.375000	0.34295	1.420000	0.47138	-0.237000	0.12165	CGA		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	10	0	0	0	1	0	7	10					A	72969169	G	A	72969169	4	1	306	1	0	0	0	0	0	1	0	0	16574	1095	38	1	2254	1	TRPA1	8	72969169	Nonsense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	31178510	72969169	73394853	14	30974											
WNK2	65268	broad.mit.edu	37	chr9	96051424	96051424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactccagctccagaggctgCctcaaccagggacgccagtg	11	16	1	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:96051424C>A	ENST00000297954.4	+	20	4499	c.4499C>A	c.(4498-4500)gCc>gAc	p.A1500D	WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D|WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1500					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						CCAGAGGCTGCCTCAACCAGG	0.687																																						ENST00000297954.4																			0				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						c.(4498-4500)gCc>gAc		WNK lysine deficient protein kinase 2							17	18	18					9																	96051424		2202	4296	6498	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051424C>A	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.4499C>A	9.37:g.96051424C>A	ENSP00000297954:p.Ala1500Asp					WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D	p.A1500D			Q9Y3S1	WNK2_HUMAN			20	4499	+			1500					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4499C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.413|8.413|8.413	0.844637|0.844637|0.844637	0.16963|0.16963|0.16963	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624|ENST00000432730;ENST00000448251	T;T;T;T|.|.	0.70164|.|.	-0.46;-0.44;0.13;0.15|.|.	5.46|5.46|5.46	0.159|0.159|0.159	0.14968|0.14968|0.14968	.|.|.	1.228420|.|.	0.05135|.|.	N|.|.	0.493223|.|.	T|.|T	0.15478|.|0.15478	0.0373|.|0.0373	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.19300|0.19300|0.19300	N|N|N	0.999979|0.999979|0.999979	D;D;B;P;P|.|.	0.69078|.|.	0.997;0.995;0.09;0.944;0.956|.|.	D;P;B;P;P|.|.	0.64410|.|.	0.925;0.844;0.021;0.546;0.527|.|.	T|.|T	0.28106|.|0.28106	-1.0054|.|-1.0054	10|.|5	0.22706|.|.	T|.|.	0.39|.|.	.|.|.	5.0336|5.0336|5.0336	0.14423|0.14423|0.14423	0.0:0.4212:0.2656:0.3132|0.0:0.4212:0.2656:0.3132|0.0:0.4212:0.2656:0.3132	.|.|.	1463;1458;1066;1463;1500|.|.	Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	D|X|T	1500;1463;1112;1075|1066|1459;260	ENSP00000297954:A1500D;ENSP00000378860:A1463D;ENSP00000297876:A1112D;ENSP00000411181:A1075D|.|.	ENSP00000297954:A1500D|.|.	A|C|P	+|+|+	2|3|1	0|2|0	WNK2|WNK2|WNK2	95091245|95091245|95091245	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.031000|0.031000|0.031000	0.17742|0.17742|0.17742	0.066000|0.066000|0.066000	0.16364|0.16364|0.16364	-0.957000|-0.957000|-0.957000	0.03861|0.03861|0.03861	0.003000|0.003000|0.003000	0.14656|0.14656|0.14656	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|TGC|CCT		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	31	1	0	0.115264	1	0.115264	3	31					A	96051424	C	A	96051424	3	1	306	1	0	0	0	0	1	0	0	0	17375	739	26	4	4462	4	WNK2	9	96051424	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		96051424	45162007	15	30975											
CALHM2	51063	broad.mit.edu	37	chr10	105209278	105209278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcttccctggccgtgaGtgaggaagggtccacgaact	14	11	1	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:105209278G>A	ENST00000260743.5	-	3	944	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	CALHM2_ENST00000393235.1_Missense_Mutation_p.L141F|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	141					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGCCGTGAGTGAGGAAGGG	0.607																																						ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(421-423)Ctc>Ttc		calcium homeostasis modulator 2							77	68	71					10																	105209278		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209278G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.421C>T	10.37:g.105209278G>A	ENSP00000260743:p.Leu141Phe					CALHM2_ENST00000260743.5_Missense_Mutation_p.L141F|CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F	p.L141F			Q9HA72	CAHM2_HUMAN			3	1618	-			141					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.421C>T	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991285	0.35131	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18016	2.24;2.24;2.24	5.31	5.31	0.75309	.	0.070349	0.64402	D	0.000017	T	0.10121	0.0248	N	0.12961	0.28	0.47584	D	0.999469	B;B;B	0.33448	0.412;0.197;0.037	B;B;B	0.32583	0.148;0.09;0.067	T	0.31138	-0.9954	10	0.19147	T	0.46	-43.6865	12.3379	0.55077	0.0775:0.0:0.9225:0.0	.	141;141;141	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	F	141	ENSP00000358803:L141F;ENSP00000260743:L141F;ENSP00000376927:L141F	ENSP00000260743:L141F	L	-	1	0	CALHM2	105199268	1.000000	0.71417	0.971000	0.41717	0.506000	0.33950	3.651000	0.54431	2.474000	0.83562	0.561000	0.74099	CTC		0.607	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		30	108	0	0	0	1	0	30	108					A	105209278	G	A	105209278	3	1	306	1	0	0	0	0	1	0	0	0	2583	1029	36	2	558	2	CALHM2	10	105209278	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		105209278	30325469	16	30976											
ART1	417	broad.mit.edu	37	chr11	3681544	3681544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccccgcccgcatctaCctccgagccctgggcaagca	11	19	1	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:3681544C>T	ENST00000250693.1	+	3	896	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	265					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCCGCATCTACCTCCGAGCCC	0.607																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(793-795)taC>taT		ADP-ribosyltransferase 1	Becaplermin(DB00102)						44	48	47					11																	3681544		2200	4298	6498	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681544C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.795C>T	11.37:g.3681544C>T							p.Y265Y	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	896	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	265					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.795C>T	CCDS7744.1																																																																																				0.607	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		7	86	0	0	0	1	0	7	86					T	3681544	C	T	3681544	2	4	306	1	0	0	0	0	0	0	0	1	997	518	18	2		2	ART1	11	3681544	Silent	SNP	C	TCGA-HT-8111-01A-11D-2395-08		3681544	131324972	17	30977											
MLL2	8085	broad.mit.edu	37	chr12	49425070	49425070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccccgcccagtgctgagtTgcacattctttgcccggagt	10	15	1	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr12:49425070T>G	ENST00000301067.7	-	39	13417	c.13418A>C	c.(13417-13419)cAa>cCa	p.Q4473P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4473					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)										AGTGCTGAGTTGCACATTCTT	0.617																																						ENST00000301067.7																			0											c.(13417-13419)cAa>cCa		lysine (K)-specific methyltransferase 2D							71	76	74					12																	49425070		2062	4208	6270	SO:0001583	missense	8085							g.chr12:49425070T>G	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.13418A>C	12.37:g.49425070T>G	ENSP00000301067:p.Gln4473Pro						p.Q4473P	NM_003482.3	NP_003473.3					39	13417	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.13418A>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	8.691	0.907334	0.17833	.	.	ENSG00000167548	ENST00000301067	T	0.80994	-1.44	5.57	5.57	0.84162	.	0.000000	0.36972	N	0.002302	T	0.77177	0.4092	N	0.24115	0.695	0.49915	D	0.999839	D	0.67145	0.996	P	0.56788	0.806	T	0.79140	-0.1926	10	0.87932	D	0	.	6.9487	0.24532	0.1468:0.0:0.1529:0.7002	.	4473	O14686	MLL2_HUMAN	P	4473	ENSP00000301067:Q4473P	ENSP00000301067:Q4473P	Q	-	2	0	MLL2	47711337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.357000	0.59436	2.254000	0.74563	0.533000	0.62120	CAA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	105	0	0	0	1	0	25	105					G	49425070	T	G	49425070	3	3	306	1	0	0	0	0	1	0	0	0	9621	1812	63	5	3259	5	MLL2	12	49425070	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08		49425070	84426825	18	30978											
KLHL28	54813	broad.mit.edu	37	chr14	45400708	45400708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgccatggatgcaaccatCtcccaggagtccttacttgg	9	13	2	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:45400708C>A	ENST00000396128.4	-	4	1499	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	460										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCAACCATCTCCCAGGAGT	0.393																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1378-1380)gaG>gaT		kelch-like family member 28							101	96	98					14																	45400708		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45400708C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1380G>T	14.37:g.45400708C>A	ENSP00000379434:p.Glu460Asp					KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D	p.E460D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			4	1499	-			460					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1380G>T	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710954	0.30322	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.81247	-1.47;-1.47	4.72	3.56	0.40772	Kelch-type beta propeller (1);	0.050906	0.85682	D	0.000000	T	0.76205	0.3955	L	0.54323	1.7	0.44899	D	0.997918	B	0.20887	0.049	B	0.28916	0.096	T	0.74034	-0.3794	10	0.40728	T	0.16	.	11.4058	0.49898	0.0:0.8691:0.0:0.1309	.	460	Q9NXS3	KLH28_HUMAN	D	460;474	ENSP00000379434:E460D;ENSP00000347193:E474D	ENSP00000347193:E474D	E	-	3	2	KLHL28	44470458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.049000	0.30392	2.321000	0.78463	0.563000	0.77884	GAG		0.393	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			3	39	1	0	6.4e-05	1	6.78788e-05	3	39					A	45400708	C	A	45400708	3	1	306	1	0	0	0	0	1	0	0	0	8382	912	32	4	343	4	KLHL28	14	45400708	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		45400708	61948832	19	30979											
TP53	7157	broad.mit.edu	37	chr17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgactgcttgtagatggCcatggcgcggacgcgggtgc	17	10	0	2	rs193920817		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr17:7578449C>T	ENST00000269305.4	-	5	670	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000420246.2_Missense_Mutation_p.A161T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T	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	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (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.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)	TTGTAGATGGCCATGGCGCGG	0.632		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		96	Substitution - Missense(63)|Deletion - Frameshift(10)|Deletion - In frame(9)|Whole gene deletion(8)|Complex - frameshift(3)|Insertion - Frameshift(2)|Complex - compound substitution(1)	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)	lung(15)|large_intestine(13)|urinary_tract(8)|stomach(7)|central_nervous_system(7)|upper_aerodigestive_tract(6)|oesophagus(6)|pancreas(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|bone(4)|liver(4)|breast(3)|ovary(3)|thyroid(1)|meninges(1)|peritoneum(1)|skin(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						c.(481-483)Gcc>Acc	Other conserved DNA damage response genes	tumor protein p53							52	53	53					17																	7578449		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578449C>T	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.481G>A	17.37:g.7578449C>T	ENSP00000269305:p.Ala161Thr	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)				TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000269305.4_Missense_Mutation_p.A161T	p.A161T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	613	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	161		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.481G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048421	0.55110	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	5.59	4.62	0.57501	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	0.99816	0.9919	M	0.86420	2.815	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.975;0.998;0.999;1.0;1.0	D	0.96744	0.9549	10	0.72032	D	0.01	-25.6622	14.7187	0.69289	0.0:0.8543:0.1457:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161T;ENSP00000352610:A161T;ENSP00000269305:A161T;ENSP00000398846:A161T;ENSP00000391127:A161T;ENSP00000391478:A161T;ENSP00000425104:A29T;ENSP00000423862:A68T;ENSP00000424104:A161T	ENSP00000269305:A161T	A	-	1	0	TP53	7519174	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.014000	0.29950	1.498000	0.48600	0.655000	0.94253	GCC		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	37	0	0	0	1	0	54	37					T	7578449	C	T	7578449	3	4	306	1	0	0	0	0	1	0	0	0	16378	739	26	2	817	2	TP53	17	7578449	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		7578449	73616761	20	30980											
TRIOBP	11078	broad.mit.edu	37	chr22	38120965	38120965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccagcgggacaatcTcagagcctcctctcccatca	8	17	3	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr22:38120965T>C	ENST00000406386.3	+	7	2657	c.2402T>C	c.(2401-2403)cTc>cCc	p.L801P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	801					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)					CGGGACAATCTCAGAGCCTCC	0.537																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2401-2403)cTc>cCc		TRIO and F-actin binding protein							153	164	160					22																	38120965		1993	4169	6162	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120965T>C	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.2402T>C	22.37:g.38120965T>C	ENSP00000384312:p.Leu801Pro					RP1-37E16.12_ENST00000455236.1_RNA	p.L801P	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2657	+	Melanoma(58;0.0574)		801					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2402T>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.377090	0.24857	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	4.41	1.17	0.20885	.	.	.	.	.	T	0.05960	0.0155	N	0.00864	-1.135	0.25154	N	0.990407	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	9	0.27785	T	0.31	.	6.4686	0.21995	0.0:0.6874:0.0:0.3126	.	801	Q9H2D6	TARA_HUMAN	P	801	ENSP00000384312:L801P	ENSP00000384312:L801P	L	+	2	0	TRIOBP	36450911	0.000000	0.05858	0.006000	0.13384	0.296000	0.27459	-0.508000	0.06344	0.151000	0.19162	-0.424000	0.05967	CTC		0.537	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	119	0	0	0	1	0	4	119					C	38120965	T	C	38120965	3	2	306	1	0	0	0	0	1	0	0	0	16550	1551	54	3	2420	3	TRIOBP	22	38120965	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08		38120965	13183601	21	30981											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309600	1309600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcggtggagccacagtcCctgcggtcccggtatccagt	13	13	0	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr1:1309600C>T	ENST00000338370.3	-	2	678	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	93					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	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)		Epithelial(90;5.82e-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;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCACAGTCCCTGCGGTCCC	0.657																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(277-279)gGg>gAg		aurora kinase A interacting protein 1							51	60	57					1																	1309600		2203	4295	6498	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309600C>T		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.278G>A	1.37:g.1309600C>T	ENSP00000342676:p.Gly93Glu					AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E	p.G93E			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-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;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	678	-	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)	93					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.278G>A	CCDS25.1	.	.	.	.	.	.	.	.	.	.	c	3.351	-0.132465	0.06753	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.71	-9.42	0.00610	.	0.853520	0.10190	N	0.704707	T	0.16896	0.0406	L	0.35723	1.085	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.44421	-0.9329	10	0.02654	T	1	-2.9457	0.5878	0.00723	0.2089:0.1815:0.2566:0.3531	.	93	Q9NWT8	AKIP_HUMAN	E	93	ENSP00000340656:G93E;ENSP00000342676:G93E;ENSP00000319778:G93E;ENSP00000368130:G93E	ENSP00000319778:G93E	G	-	2	0	AURKAIP1	1299463	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.464000	0.02359	-2.200000	0.00747	-0.793000	0.03317	GGG		0.657	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		6	66	0	0	0	1	0	6	66					T	1309600	C	T	1309600	3	4	307	1	0	0	0	0	1	0	0	0	1222	623	22	2	329	2	AURKAIP1	1	1309600	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		1309600	247941021	1	30982											
NRXN1	9378	broad.mit.edu	37	chr2	50723230	50723230	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaatcaaacacgtaatgtaaGtacctgggaaaaaaatgaaa	7	5	1	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:50723230G>C	ENST00000406316.2	-	15	4359	c.2883C>G	c.(2881-2883)taC>taG	p.Y961*	NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.Y1001*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	961	Laminin G-like 5. {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)			CGTAATGTAAGTACCTGGGAA	0.353																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3001-3003)taC>taG		neurexin 1							63	51	55					2																	50723230		1863	4110	5973	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50723230G>C	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.2883C>G	2.37:g.50723230G>C	ENSP00000384311:p.Tyr961*					NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000331040.5_5'UTR	p.Y1001*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		16	4342	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	961			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.3003C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	51	17.563971	0.99889	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4676	0.21990	0.2089:0.0:0.7911:0.0	.	.	.	.	X	1001;961;953;961;1002;953;961	.	.	Y	-	3	2	NRXN1	50576734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.710000	0.37920	2.844000	0.97970	0.650000	0.86243	TAC		0.353	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	11	0	0	0	1	0	4	11					C	50723230	G	C	50723230	4	2	307	1	0	0	0	0	0	1	0	0	10665	1024	36	4	1939	4	NRXN1	2	50723230	Nonsense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		50723230	192476143	2	30983											
MRPS5	64969	broad.mit.edu	37	chr2	95773974	95773974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctccccatgagtttcCactccatcctcgctcccgtt	6	18	0	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:95773974C>T	ENST00000272418.2	-	5	791	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	195					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAGTTTCCACTCCATCCT	0.532																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(583-585)Gga>Aga		mitochondrial ribosomal protein S5							195	159	171					2																	95773974		2203	4300	6503	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95773974C>T	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.583G>A	2.37:g.95773974C>T	ENSP00000272418:p.Gly195Arg						p.G195R	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			5	791	-			195					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.583G>A	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401210	0.62288	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	5.08	0.68730	.	0.049253	0.85682	N	0.000000	T	0.80798	0.4692	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83790	0.0230	9	0.87932	D	0	-21.9676	16.3231	0.82958	0.0:1.0:0.0:0.0	.	195;195	B4DIW8;P82675	.;RT05_HUMAN	R	195	.	ENSP00000272418:G195R	G	-	1	0	MRPS5	95137701	1.000000	0.71417	0.854000	0.33618	0.017000	0.09413	7.183000	0.77697	2.526000	0.85167	0.462000	0.41574	GGA		0.532	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		14	89	0	0	0	1	0	14	89					T	95773974	C	T	95773974	3	4	307	1	0	0	0	0	1	0	0	0	9846	603	21	2	741	2	MRPS5	2	95773974	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	45050744	95773974	147425399	3	30984											
SDPR	8436	broad.mit.edu	37	chr2	192700918	192700918	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcgagggacgcttcggaatGaccctctgcaaaggactcct	13	12	1	1	rs115736105	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:192700918G>A	ENST00000304141.4	-	2	1338	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCTTCGGAATGACCCTCTGCA	0.567													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.0					ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(1009-1011)Cat>Tat		serum deprivation response	Phosphatidylserine(DB00144)	G	TYR/HIS	22,4384	29.0+/-57.7	0,22,2181	104	105	105		1009	2.2	0	2	dbSNP_132	105	0,8600		0,0,4300	yes	missense	SDPR	NM_004657.5	83	0,22,6481	AA,AG,GG		0.0,0.4993,0.1692	benign	337/426	192700918	22,12984	2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192700918G>A	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1009C>T	2.37:g.192700918G>A	ENSP00000305675:p.His337Tyr						p.H337Y	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	1338	-			337						Missense_Mutation	SNP	ENST00000304141.4	37	c.1009C>T	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385454	0.25031	0.004993	0.0	ENSG00000168497	ENST00000304141	T	0.64991	-0.13	5.01	2.15	0.27550	.	1.803300	0.02516	N	0.092034	T	0.47893	0.1470	L	0.38175	1.15	0.09310	N	1	P	0.34757	0.467	B	0.34138	0.176	T	0.33624	-0.9861	10	0.02654	T	1	2.9064	5.2946	0.15745	0.0728:0.2693:0.5187:0.1392	.	337	O95810	SDPR_HUMAN	Y	337	ENSP00000305675:H337Y	ENSP00000305675:H337Y	H	-	1	0	SDPR	192409163	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.410000	0.34691	0.281000	0.22233	0.563000	0.77884	CAT		0.567	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		7	146	0	0	0	1	0	7	146					A	192700918	G	A	192700918	3	1	307	1	0	0	0	0	1	0	0	0	13970	1290	45	2	272	2	SDPR	2	192700918	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	96926944	192700918	50498455	4	30985											
ESYT3	83850	broad.mit.edu	37	chr3	138191379	138191379	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	accctgcttctgatactaagGacgtatccaggagtaccaca	8	12	1	1	rs72976634	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:138191379G>C	ENST00000389567.4	+	18	2101	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	639					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)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGATACTAAGGACGTATCCAG	0.557													G|||	18	0.00359425	0.0136	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.0					ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(1915-1917)Gac>Cac		extended synaptotagmin-like protein 3		G	HIS/ASP	57,4071		1,55,2008	136	151	146		1915	2.7	0	3	dbSNP_130	146	0,8406		0,0,4203	yes	missense	ESYT3	NM_031913.3	81	1,55,6211	CC,CG,GG		0.0,1.3808,0.4548	benign	639/887	138191379	57,12477	2064	4203	6267	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191379G>C	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1915G>C	3.37:g.138191379G>C	ENSP00000374218:p.Asp639His						p.D639H	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2101	+			639					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1915G>C	CCDS3101.2	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	2.856	-0.237215	0.05944	0.013808	0.0	ENSG00000158220	ENST00000389567	T	0.39229	1.09	4.6	2.69	0.31865	.	3.265660	0.01330	N	0.011232	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.28784	0.094	T	0.21211	-1.0252	10	0.46703	T	0.11	-7.9956	6.8374	0.23943	0.0968:0.3675:0.5357:0.0	.	639	A0FGR9	ESYT3_HUMAN	H	639	ENSP00000374218:D639H	ENSP00000374218:D639H	D	+	1	0	ESYT3	139674069	0.009000	0.17119	0.009000	0.14445	0.022000	0.10575	0.526000	0.22971	1.146000	0.42352	0.462000	0.41574	GAC		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		6	139	0	0	0	1	0	6	139					C	138191379	G	C	138191379	3	2	307	1	0	0	0	0	1	0	0	0	5266	1174	41	4	1985	4	ESYT3	3	138191379	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		138191379	59831051	5	30986											
GYG1	2992	broad.mit.edu	37	chr3	148744693	148744693	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gattcctttgacaacatcaaGaggaaacttgacacttacct	6	10	1	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:148744693G>C	ENST00000345003.4	+	8	1326	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	GYG1_ENST00000484197.1_Missense_Mutation_p.R252T|GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Missense_Mutation_p.K325N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	342					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)			ACAACATCAAGAGGAAACTTG	0.458																																						ENST00000345003.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8						c.(1024-1026)aaG>aaC		glycogenin 1							88	89	89					3																	148744693		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148744693G>C	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.1026G>C	3.37:g.148744693G>C	ENSP00000340736:p.Lys342Asn					GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Missense_Mutation_p.K325N|GYG1_ENST00000484197.1_Missense_Mutation_p.R252T	p.K342N	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1326	+			342					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.1026G>C	CCDS3139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060958|3.060958	0.55432|0.55432	.|.	.|.	ENSG00000163754|ENSG00000163754	ENST00000345003;ENST00000296048|ENST00000484197	T;T|T	0.64991|0.78364	-0.13;-0.12|-1.17	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.094736|.	0.64402|.	D|.	0.000001|.	T|T	0.73613|0.73613	0.3609|0.3609	M|M	0.78637|0.78637	2.42|2.42	0.34553|0.34553	D|D	0.711517|0.711517	B;B|B	0.26512|0.32573	0.12;0.151|0.376	B;B|B	0.32022|0.26770	0.139;0.082|0.073	T|T	0.75065|0.75065	-0.3449|-0.3449	10|9	0.49607|0.11794	T|T	0.09|0.64	-10.0079|-10.0079	12.7999|12.7999	0.57580|0.57580	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	325;342|252	P46976-2;P46976|D3DNH0	.;GLYG_HUMAN|.	N|T	342;325|252	ENSP00000340736:K342N;ENSP00000296048:K325N|ENSP00000420683:R252T	ENSP00000296048:K325N|ENSP00000420683:R252T	K|R	+|+	3|2	2|0	GYG1|GYG1	150227383|150227383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.465000|5.465000	0.66725|0.66725	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.458	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		8	99	0	0	0	1	0	8	99					C	148744693	G	C	148744693	3	2	307	1	0	0	0	0	1	0	0	0	6905	942	33	4	1056	4	GYG1	3	148744693	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	10553314	148744693	49277737	6	30987											
TLR6	10333	broad.mit.edu	37	chr4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtatgttcctggccctgCgccgagtctgggtccactgg	15	12	1	0	rs556706627		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:38829218C>T	ENST00000381950.1	-	1	1942	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000436693.2_Missense_Mutation_p.R626H			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|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)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20313	0.0		0.001	False		,,,				2504	0.0					ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1876-1878)cGc>cAc		toll-like receptor 6							98	96	97					4																	38829218		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829218C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1877G>A	4.37:g.38829218C>T	ENSP00000371376:p.Arg626His					TLR6_ENST00000381950.1_Missense_Mutation_p.R626H	p.R626H	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1996	-			626					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1877G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807402	0.00606	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.09723	2.95;2.95	4.29	-8.58	0.00897	.	0.861964	0.10184	N	0.705435	T	0.05640	0.0148	N	0.16903	0.455	0.09310	N	0.999998	B	0.12013	0.005	B	0.10450	0.005	T	0.35748	-0.9776	10	0.23302	T	0.38	.	13.5409	0.61672	0.0869:0.1805:0.0:0.7327	.	626	Q9Y2C9	TLR6_HUMAN	H	626	ENSP00000389600:R626H;ENSP00000371376:R626H	ENSP00000371376:R626H	R	-	2	0	TLR6	38505613	0.000000	0.05858	0.090000	0.20809	0.079000	0.17450	-1.074000	0.03427	-2.583000	0.00461	-1.199000	0.01669	CGC		0.502	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			21	106	0	0	0	1	0	21	106					T	38829218	C	T	38829218	3	4	307	1	0	0	0	0	1	0	0	0	15952	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		38829218	152325058	7	30988											
N4BP2	55728	broad.mit.edu	37	chr4	40104251	40104252	+	Frame_Shift_Ins	INS	-	-	A													tcgcaggttgtagcagtctcINSaatcaaaaacagaaagaact							TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:40104251_40104252insA	ENST00000261435.6	+	4	1202_1203	c.786_787insA	c.(787-789)aatfs	p.N263fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	263					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						GTAGCAGTCTCAATCAAAAACA	0.411																																						ENST00000261435.6																			0				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						c.(784-789)ctatcafs		NEDD4 binding protein 2																																				SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104251_40104252insA	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.788dupA	4.37:g.40104253_40104253dupA	ENSP00000261435:p.Asn263fs						p.S263fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			4	1202_1203	+			263					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Ins	INS	ENST00000261435.6	37	c.786_787insA	CCDS3457.1																																																																																				0.411	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		12	51						12	51	---	---	---	---	A	40104252	-	A	40104251	7	5	307	1	0	1	1	0	0	0	0	0	10110	813	29	0	792	0	N4BP2	4	40104251	Frame_Shift_Ins	INS	-	TCGA-HT-8113-01A-11D-2395-08	1275033	40104251	151050025	8	30989											
PCDHA10	56139	broad.mit.edu	37	chr5	140237337	140237337	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgcgctgctggcgtctccCgctggcagcgcgggcggtgc	17	17	1	0	rs7725388	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr5:140237337C>G	ENST00000307360.5	+	1	1704	c.1704C>G	c.(1702-1704)ccC>ccG	p.P568P	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	568					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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCTCCCGCTGGCAGCG	0.692													.|||	129	0.0257588	0.0946	0.0043	5008	,	,		14471	0.0		0.001	False		,,,				2504	0.0					ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1702-1704)ccC>ccG				C	,,,,,,,,,,,,,	191,2451		11,169,1141	28	29	29		,1704,,,,,,,,,,,1704,	-0.7	0	5	dbSNP_116	29	2,4572		0,2,2285	no	intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,,,,,,,,,,,,,	11,171,3426	GG,GC,CC		0.0437,7.2294,2.6746	,,,,,,,,,,,,,	,568/949,,,,,,,,,,,568/845,	140237337	193,7023	1321	2287	3608	SO:0001819	synonymous_variant	0							g.chr5:140237337C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1704C>G	5.37:g.140237337C>G						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.P568P	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1704	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1704C>G	CCDS54921.1																																																																																				0.692	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	66	0	0	0	1	0	4	66					G	140237337	C	G	140237337	2	3	307	1	0	0	0	0	0	0	0	1	11520	639	23	4		4	PCDHA10	5	140237337	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		140237337	40677923	9	30990											
MLLT4	4301	broad.mit.edu	37	chr6	168352193	168352193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccactatgccggtgatttcGatggaatgtccatggatttg	11	8	0	1	rs78299900	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr6:168352193G>A	ENST00000447894.2	+	29	4138	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N	MLLT4_ENST00000366806.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1380	Pro-rich.				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)		CGGTGATTTCGATGGAATGTC	0.627			T	MLL	AL								G|||	16	0.00319489	0.0121	0.0	5008	,	,		14149	0.0		0.0	False		,,,				2504	0.0					ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				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						c.(4138-4140)Gat>Aat		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4		G	ASN/ASP,ASN/ASP	52,4354	52.3+/-87.9	0,52,2151	74	84	81		4138,4087	5.3	0	6	dbSNP_131	81	0,8600		0,0,4300	yes	missense,missense	MLLT4	NM_001040000.2,NM_001207008.1	23,23	0,52,6451	AA,AG,GG		0.0,1.1802,0.3998	possibly-damaging,possibly-damaging	1380/1652,1363/1744	168352193	52,12954	2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352193G>A	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.4138G>A	6.37:g.168352193G>A	ENSP00000404595:p.Asp1380Asn					MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N	p.D1380N			P55196	AFAD_HUMAN		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)	30	4280	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1380			Pro-rich.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4138G>A		8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	14.92	2.679267	0.47886	0.011802	0.0	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04970	3.74;3.56;3.73;3.65;3.52;3.56;3.56	5.3	5.3	0.74995	.	0.111969	0.64402	D	0.000012	T	0.12008	0.0292	M	0.63428	1.95	0.28701	N	0.904064	D;D;D;D	0.71674	0.993;0.998;0.995;0.995	P;P;P;P	0.61658	0.719;0.892;0.794;0.794	T	0.02758	-1.1114	10	0.34782	T	0.22	-6.2377	18.9971	0.92818	0.0:0.0:1.0:0.0	.	1380;1379;1380;1364	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	1380;1387;1380;1380;1363;1380;1379;1380	ENSP00000341118:D1380N;ENSP00000252692:D1387N;ENSP00000375956:D1380N;ENSP00000355771:D1380N;ENSP00000375960:D1363N;ENSP00000383623:D1379N;ENSP00000404595:D1380N	ENSP00000345834:D1380N	D	+	1	0	MLLT4	168095042	1.000000	0.71417	0.019000	0.16419	0.007000	0.05969	6.411000	0.73298	2.480000	0.83734	0.650000	0.86243	GAT		0.627	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		6	134	0	0	0	1	0	6	134					A	168352193	G	A	168352193	3	1	307	1	0	0	0	0	1	0	0	0	9629	1058	37	1	4252	1	MLLT4	6	168352193	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		168352193	2762874	10	30991											
HERPUD2	64224	broad.mit.edu	37	chr7	35707097	35707097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcagtttgtgcttgTggaagggtacgctgcctcaa	14	8	2	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:35707097T>C	ENST00000396081.1	-	4	1245	c.441A>G	c.(439-441)ccA>ccG	p.P147P	HERPUD2_ENST00000311350.3_Silent_p.P147P|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	147					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTGTGCTTGTGGAAGGGTAC	0.458																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(439-441)ccA>ccG		HERPUD family member 2							180	164	169					7																	35707097		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35707097T>C	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.441A>G	7.37:g.35707097T>C						HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P147P	p.P147P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			4	1245	-			147					A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.441A>G	CCDS5446.1																																																																																				0.458	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		28	110	0	0	0	1	0	28	110					C	35707097	T	C	35707097	2	2	307	1	0	0	0	0	0	0	0	1	7064	1683	59	3		3	HERPUD2	7	35707097	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08		35707097	123431566	11	30992											
PTCD1	26024	broad.mit.edu	37	chr7	99032678	99032678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagagcccaggctgcccGtgttttcctgacgctcctgg	13	14	1	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:99032678G>A	ENST00000292478.4	-	2	438	c.188C>T	c.(187-189)aCg>aTg	p.T63M	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000485746.1_5'Flank|PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	63					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)			CAGGCTGCCCGTGTTTTCCTG	0.642																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(187-189)aCg>aTg		pentatricopeptide repeat domain 1							31	33	32					7																	99032678		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99032678G>A	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.188C>T	7.37:g.99032678G>A	ENSP00000292478:p.Thr63Met					PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M	p.T63M	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	438	-	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)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.188C>T	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330229	0.24167	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	T;T;D;D;D;T;T	0.82711	-0.06;-0.06;-1.64;-1.64;-1.61;-1.04;-0.06	5.84	-8.11	0.01082	.	1.068260	0.07170	N	0.852240	T	0.64338	0.2589	L	0.28192	0.835	0.09310	N	1	B;B	0.25048	0.117;0.071	B;B	0.13407	0.009;0.004	T	0.49204	-0.8964	10	0.31617	T	0.26	-0.1642	5.0883	0.14694	0.5253:0.0893:0.2957:0.0896	.	112;63	G3V325;O75127	.;PTCD1_HUMAN	M	63;112;63;63;63;63;112	ENSP00000292478:T63M;ENSP00000450995:T112M;ENSP00000390530:T63M;ENSP00000408059:T63M;ENSP00000401600:T63M;ENSP00000410697:T63M;ENSP00000400168:T112M	ENSP00000400168:T112M	T	-	2	0	ATP5J2-PTCD1;PTCD1	98870614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.480000	0.02325	-1.426000	0.01994	-0.253000	0.11424	ACG		0.642	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		5	63	0	0	0	1	0	5	63					A	99032678	G	A	99032678	3	1	307	1	0	0	0	0	1	0	0	0	12727	1145	40	1	1942	1	PTCD1	7	99032678	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	63325581	99032678	60105985	12	30993											
QSOX2	169714	broad.mit.edu	37	chr9	139118662	139118662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgtagtcatggcacacGgcctggttcttctcttccat	9	12	3	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr9:139118662G>A	ENST00000358701.5	-	2	424	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)		CATGGCACACGGCCTGGTTCT	0.562											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(385-387)gcC>gcT		quiescin Q6 sulfhydryl oxidase 2							280	235	250					9																	139118662		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139118662G>A	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.387C>T	9.37:g.139118662G>A			OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1646		p.A129A	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	2	424	-		Myeloproliferative disorder(178;0.0511)	129			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.387C>T	CCDS35178.1																																																																																				0.562	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		8	161	0	0	0	1	0	8	161					A	139118662	G	A	139118662	2	1	307	1	0	0	0	0	0	0	0	1	12884	1103	39	1		1	QSOX2	9	139118662	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		139118662	2094769	13	30994											
KIAA1462	57608	broad.mit.edu	37	chr10	30318651	30318651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggacaggcaggctgtgGgcttgggccattcctctggc	16	11	1	0	rs374167700		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:30318651G>A	ENST00000375377.1	-	3	527	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	142					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						GCAGGCTGTGGGCTTGGGCCA	0.572																																						ENST00000375377.1																			0				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						c.(424-426)gcC>gcT		KIAA1462							216	213	214					10																	30318651		2086	4228	6314	SO:0001819	synonymous_variant	57608							g.chr10:30318651G>A	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.426C>T	10.37:g.30318651G>A							p.A142A	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	527	-			142					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.426C>T	CCDS41500.1																																																																																				0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		34	227	0	0	0	1	0	34	227					A	30318651	G	A	30318651	2	1	307	1	0	0	0	0	0	0	0	1	8234	1219	43	2		2	KIAA1462	10	30318651	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		30318651	105216096	14	30995											
NRAP	4892	broad.mit.edu	37	chr10	115380379	115380379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacctcgctaatgagttctCctgccttcttcgcctgctcc	6	17	3	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:115380379C>T	ENST00000359988.3	-	25	3102	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	NRAP_ENST00000360478.3_Missense_Mutation_p.G918E|NRAP_ENST00000369358.4_Missense_Mutation_p.G961E|NRAP_ENST00000369360.3_Missense_Mutation_p.G926E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											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)		AATGAGTTCTCCTGCCTTCTT	0.498																																						ENST00000369358.4																			0				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						c.(2881-2883)gGa>gAa		nebulin-related anchoring protein							151	131	137					10																	115380379		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115380379C>T		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.2858G>A	10.37:g.115380379C>T	ENSP00000353078:p.Gly953Glu					NRAP_ENST00000359988.3_Missense_Mutation_p.G953E|NRAP_ENST00000369360.3_Missense_Mutation_p.G926E|NRAP_ENST00000360478.3_Missense_Mutation_p.G918E	p.G961E			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	25	3126	-		Colorectal(252;0.0233)|Breast(234;0.188)	953						Missense_Mutation	SNP	ENST00000359988.3	37	c.2882G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182464	0.78677	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.17370	2.49;2.5;2.37;2.28	5.96	5.96	0.96718	.	0.107777	0.64402	D	0.000004	T	0.43500	0.1250	M	0.78456	2.415	0.50313	D	0.999864	D;D;D	0.71674	0.998;0.998;0.974	D;D;P	0.72625	0.951;0.978;0.722	T	0.13522	-1.0506	10	0.45353	T	0.12	.	15.8525	0.78943	0.0:0.8652:0.1348:0.0	.	953;918;953	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	961;926;953;918	ENSP00000358365:G961E;ENSP00000358367:G926E;ENSP00000353078:G953E;ENSP00000353666:G918E	ENSP00000353078:G953E	G	-	2	0	NRAP	115370369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.568000	0.67385	2.832000	0.97577	0.655000	0.94253	GGA		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		8	102	0	0	0	1	0	8	102					T	115380379	C	T	115380379	3	4	307	1	0	0	0	0	1	0	0	0	10638	855	30	2	2406	2	NRAP	10	115380379	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	85061728	115380379	20154368	15	30996											
EIF3A	8661	broad.mit.edu	37	chr10	120802275	120802275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcgcccttctccacgTctccactccctacacagcaa	3	20	4	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:120802275T>G	ENST00000369144.3	-	19	2884	c.2757A>C	c.(2755-2757)agA>agC	p.R919S	EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTCCACGTCTCCACTCCC	0.423																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(2755-2757)agA>agC		eukaryotic translation initiation factor 3, subunit A							95	101	99					10																	120802275		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802275T>G	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2757A>C	10.37:g.120802275T>G	ENSP00000358140:p.Arg919Ser					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	p.R919S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	2884	-		Lung NSC(174;0.094)|all_lung(145;0.123)	919					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2757A>C	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227982	0.39399	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24723	1.85;1.84	6.16	2.57	0.30868	.	0.000000	0.40554	N	0.001062	T	0.19046	0.0457	M	0.80746	2.51	0.49915	D	0.999837	P	0.40731	0.728	B	0.31946	0.138	T	0.12993	-1.0526	10	0.18276	T	0.48	-13.9622	0.5004	0.00579	0.2999:0.2738:0.1271:0.2992	.	919	Q14152	EIF3A_HUMAN	S	919;885	ENSP00000358140:R919S;ENSP00000438178:R885S	ENSP00000358140:R919S	R	-	3	2	EIF3A	120792265	0.978000	0.34361	1.000000	0.80357	0.890000	0.51754	-0.002000	0.12924	0.566000	0.29273	0.528000	0.53228	AGA		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		9	144	0	0	0	1	0	9	144					G	120802275	T	G	120802275	3	3	307	1	0	0	0	0	1	0	0	0	5012	1664	58	5	1407	5	EIF3A	10	120802275	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08	5421896	120802275	14732472	16	30997											
OR5M11	219487	broad.mit.edu	37	chr11	56310625	56310625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttgcctagcagggtgaCgaggtaaacaaccagaaaca	12	9	0	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:56310625C>T	ENST00000528616.2	-	1	132	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	37						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(2)|large_intestine(1)|lung(14)	18						AGCAGGGTGACGAGGTAAACA	0.473																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(109-111)Gtc>Atc		olfactory receptor, family 5, subfamily M, member 11							125	124	124					11																	56310625		2108	4257	6365	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310625C>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.109G>A	11.37:g.56310625C>T	ENSP00000432417:p.Val37Ile						p.V37I	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	132	-			37					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.109G>A	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.528204	0.00147	.	.	ENSG00000255223	ENST00000528616	T	0.00578	6.44	5.1	1.09	0.20402	.	.	.	.	.	T	0.00356	0.0011	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45789	-0.9237	9	0.02654	T	1	.	2.0359	0.03539	0.1376:0.4995:0.1337:0.2293	.	37	Q96RB7	OR5MB_HUMAN	I	37	ENSP00000432417:V37I	ENSP00000432417:V37I	V	-	1	0	OR5M11	56067201	0.000000	0.05858	0.017000	0.16124	0.029000	0.11900	-2.413000	0.01038	0.057000	0.16193	-0.181000	0.13052	GTC		0.473	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		5	103	0	0	0	1	0	5	103					T	56310625	C	T	56310625	3	4	307	1	0	0	0	0	1	0	0	0	11174	536	19	1	811	1	OR5M11	11	56310625	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		56310625	78695891	17	30998											
ZFPL1	7542	broad.mit.edu	37	chr11	64855417	64855417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagccgggctgggtctcGgaagcggccgctgaccctgc	17	14	1	1	rs570349109		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:64855417G>A	ENST00000294258.3	+	8	916	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	255					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						GCTGGGTCTCGGAAGCGGCCG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		14689	0.0		0.0	False		,,,				2504	0.001					ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(763-765)cGg>cAg		zinc finger protein-like 1							30	34	33					11																	64855417		2200	4295	6495	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855417G>A		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.764G>A	11.37:g.64855417G>A	ENSP00000294258:p.Arg255Gln						p.R255Q	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			8	916	+			255					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.764G>A	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986456	0.53934	.	.	ENSG00000162300	ENST00000294258	T	0.47177	0.85	5.02	5.02	0.67125	.	0.126462	0.52532	D	0.000070	T	0.51295	0.1666	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	P	0.52710	0.707	T	0.51756	-0.8665	10	0.54805	T	0.06	-12.8953	13.6929	0.62559	0.0:0.0:1.0:0.0	.	255	O95159	ZFPL1_HUMAN	Q	255	ENSP00000294258:R255Q	ENSP00000294258:R255Q	R	+	2	0	ZFPL1	64611993	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	2.947000	0.49058	2.608000	0.88229	0.655000	0.94253	CGG		0.697	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		12	73	0	0	0	1	0	12	73					A	64855417	G	A	64855417	3	1	307	1	0	0	0	0	1	0	0	0	17653	1116	39	1	790	1	ZFPL1	11	64855417	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	8544792	64855417	70151099	18	30999											
SORL1	6653	broad.mit.edu	37	chr11	121358800	121358800	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgtttgacttctgcaacacTcttcaaggcttttccatccc	5	14	3	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:121358800T>A	ENST00000260197.7	+	4	717	c.588T>A	c.(586-588)acT>acA	p.T196T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	196					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)		TCTGCAACACTCTTCAAGGCT	0.517																																						ENST00000260197.7																			0				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						c.(586-588)acT>acA		sortilin-related receptor, L(DLR class) A repeats containing							365	334	344					11																	121358800		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121358800T>A	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.588T>A	11.37:g.121358800T>A						SORL1_ENST00000532451.1_3'UTR	p.T196T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	4	717	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	196					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.588T>A	CCDS8436.1																																																																																				0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		64	275	0	0	0	1	0	64	275					A	121358800	T	A	121358800	2	1	307	1	0	0	0	0	0	0	0	1	14934	1538	54	5		5	SORL1	11	121358800	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08	56503383	121358800	13647716	19	31000											
C12orf64	283310	broad.mit.edu	37	chr12	80749688	80749688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgaagttgtcatgggCatcattgataaatggacctg	12	6	2	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:80749688C>T	ENST00000547103.1	+	46	5709	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Silent_p.G1913G			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1901					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						TTGTCATGGGCATCATTGATA	0.393																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5737-5739)ggC>ggT		otogelin-like							246	230	235					12																	80749688		1917	4140	6057	SO:0001819	synonymous_variant	283310							g.chr12:80749688C>T	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.5703C>T	12.37:g.80749688C>T						OTOGL_ENST00000547103.1_Silent_p.G1901G	p.G1913G	NM_173591.3	NP_775862.3					46	5745	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.5739C>T		.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246507	0.01481	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.18	1.01	0.19927	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21621	-1.0240	4	.	.	.	.	0.7636	0.01011	0.162:0.3201:0.1587:0.3592	.	.	.	.	V	356	.	.	A	+	2	0	OTOGL	79273819	0.971000	0.33674	0.014000	0.15608	0.046000	0.14306	1.022000	0.30052	0.192000	0.20272	0.591000	0.81541	GCA		0.393	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		22	181	0	0	0	1	0	22	181					T	80749688	C	T	80749688	2	4	307	1	0	0	0	0	0	0	0	1	1707	697	25	2		2	C12orf64	12	80749688	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		80749688	53102207	20	31001											
ACACB	32	broad.mit.edu	37	chr12	109690903	109690903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgtctcccacatcacCgtgccagatgactttgaggg	11	11	2	3	rs564550427		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				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)	CCCACATCACCGTGCCAGATG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		5710	0.0		0.0	False		,,,				2504	0.001					ENST00000338432.7																			0				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						c.(5983-5985)acC>acT		acetyl-CoA carboxylase beta	Biotin(DB00121)						345	287	307					12																	109690903		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109690903C>T	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.5985C>T	12.37:g.109690903C>T						ACACB_ENST00000377848.3_Silent_p.T1995T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000543201.1_Silent_p.T661T	p.T1995T			O00763	ACACB_HUMAN			43	6104	+			1995			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5985C>T	CCDS31898.1																																																																																				0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		33	241	0	0	0	1	0	33	241					T	109690903	C	T	109690903	2	4	307	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109690903	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08	28941215	109690903	24160992	21	31002											
LATS2	26524	broad.mit.edu	37	chr13	21557659	21557659	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagtagtagagtttgAccacccactcattgtctgcc	11	10	2	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr13:21557659A>T	ENST00000382592.4	-	5	2591	c.2186T>A	c.(2185-2187)gTc>gAc	p.V729D	LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	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)		GTAGAGTTTGACCACCCACTC	0.537																																						ENST00000382592.4																			0				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						c.(2185-2187)gTc>gAc		large tumor suppressor kinase 2							173	165	168					13																	21557659		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557659A>T	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.2186T>A	13.37:g.21557659A>T	ENSP00000372035:p.Val729Asp					LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	p.V729D	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		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)	5	2591	-		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)	729			Protein kinase.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2186T>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171454	0.78452	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.15603	2.41;2.41	5.19	5.19	0.71726	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	0.000008	T	0.54951	0.1890	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70011	-0.4989	10	0.87932	D	0	.	15.2563	0.73588	1.0:0.0:0.0:0.0	.	729	Q9NRM7	LATS2_HUMAN	D	729	ENSP00000372035:V729D;ENSP00000441817:V729D	ENSP00000372035:V729D	V	-	2	0	LATS2	20455659	1.000000	0.71417	0.987000	0.45799	0.815000	0.46073	9.081000	0.94049	2.188000	0.69820	0.454000	0.30748	GTC		0.537	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			13	172	0	0	0	1	0	13	172					T	21557659	A	T	21557659	3	4	307	1	0	0	0	0	1	0	0	0	8647	275	10	5	1096	5	LATS2	13	21557659	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		21557659	93612219	22	31003											
KIAA0284	283638	broad.mit.edu	37	chr14	105360916	105360916	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactgaggcgggtgcagaaaCagctggaaggtgagtgtggc	18	6	0	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr14:105360916C>A	ENST00000414716.3	+	18	4636	c.4408C>A	c.(4408-4410)Cag>Aag	p.Q1470K	CEP170B_ENST00000453495.1_Missense_Mutation_p.Q1506K|CEP170B_ENST00000556508.1_Missense_Mutation_p.Q1435K|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q1400K	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1505						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGTGCAGAAACAGCTGGAAGG	0.617																																						ENST00000453495.1																			0											c.(4516-4518)Cag>Aag		centrosomal protein 170B							47	61	56					14																	105360916		2106	4204	6310	SO:0001583	missense	283638							g.chr14:105360916C>A	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.4408C>A	14.37:g.105360916C>A	ENSP00000404151:p.Gln1470Lys					CEP170B_ENST00000556508.1_Missense_Mutation_p.Q1435K|CEP170B_ENST00000414716.3_Missense_Mutation_p.Q1470K|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q1400K	p.Q1506K							18	4744	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4516C>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612598	0.66672	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.56776	0.53;0.45;0.44;0.56	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.73962	2.25	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.993;0.998	D;D;D	0.85130	0.997;0.952;0.997	T	0.76305	-0.3008	10	0.72032	D	0.01	-33.2329	16.4836	0.84171	0.0:1.0:0.0:0.0	.	1470;1505;1400	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	K	1435;1470;1506;1400;138	ENSP00000451249:Q1435K;ENSP00000404151:Q1470K;ENSP00000407238:Q1506K;ENSP00000415006:Q1400K	ENSP00000251181:Q122K	Q	+	1	0	KIAA0284	104431961	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	6.789000	0.75110	2.452000	0.82932	0.555000	0.69702	CAG		0.617	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	28	1	0	0.115264	1	0.115264	3	28					A	105360916	C	A	105360916	3	1	307	1	0	0	0	0	1	0	0	0	8166	479	17	4	4474	4	KIAA0284	14	105360916	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		105360916	1988624	23	31004											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			15	66	0	0	0	1	0	15	66					T	90631838	C	T	90631838	3	4	307	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		90631838	11899554	24	31005											
C16orf62	57020	broad.mit.edu	37	chr16	19580757	19580757	+	Frame_Shift_Del	DEL	A	A	-													tcctcacaggtcacagagtcAaagacaaagaaagtgaaccg							TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:19580757delA	ENST00000251143.5	+	3	141	c.129delA	c.(127-129)tcafs	p.S43fs	C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000438132.3_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	43						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						TCACAGAGTCAAAGACAAAGA	0.527																																						ENST00000438132.3																			0				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						c.(394-396)tcfs		chromosome 16 open reading frame 62							49	50	50					16																	19580757		2197	4300	6497	SO:0001589	frameshift_variant	57020					integral to membrane		g.chr16:19580757delA		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.129delA	16.37:g.19580757delA	ENSP00000251143:p.Ser43fs					C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000251143.5_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs	p.S132fs	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			3	444	+			43					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Frame_Shift_Del	DEL	ENST00000251143.5	37	c.396delA																																																																																					0.527	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		8	50						8	50	---	---	---	---	-	19580757	A	-	19580757	7	5	307	1	0	1	0	1	0	0	0	0	1825	117	5	0	139	0	C16orf62	16	19580757	Frame_Shift_Del	DEL	A	TCGA-HT-8113-01A-11D-2395-08		19580757	70773996	25	31006											
ARMC5	79798	broad.mit.edu	37	chr16	31470908	31470908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcgcgcagctcgcggcGgcggccggggaggctctggg	20	14	1	0	rs375181224	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:31470908G>A	ENST00000563544.1	+	2	609	c.63G>A	c.(61-63)gcG>gcA	p.A21A	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.A53A|ARMC5_ENST00000457010.2_Silent_p.A21A|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000268314.4_Silent_p.A21A|ARMC5_ENST00000412665.2_5'Flank			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	21										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTCGCGGCGGCGGCCGGGG	0.711													G|||	16	0.00319489	0.0121	0.0	5008	,	,		11332	0.0		0.0	False		,,,				2504	0.0					ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(61-63)gcG>gcA		armadillo repeat containing 5		G	,	39,3767		0,39,1864	10	15	13		63,63	2.6	1	16		13	0,8180		0,0,4090	no	coding-synonymous,coding-synonymous	ARMC5	NM_001105247.1,NM_024742.2	,	0,39,5954	AA,AG,GG		0.0,1.0247,0.3254	,	21/936,21/726	31470908	39,11947	1903	4090	5993	SO:0001819	synonymous_variant	79798						binding	g.chr16:31470908G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.63G>A	16.37:g.31470908G>A						ARMC5_ENST00000268314.4_Silent_p.A21A|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000538189.1_Silent_p.A53A|ARMC5_ENST00000563544.1_Silent_p.A21A|RP11-452L6.5_ENST00000564629.1_RNA	p.A21A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			1	764	+			21					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.63G>A	CCDS45472.1																																																																																				0.711	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	16	0	0	0	1	0	3	16					A	31470908	G	A	31470908	2	1	307	1	0	0	0	0	0	0	0	1	954	1103	39	1		1	ARMC5	16	31470908	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	11890151	31470908	58883845	26	31007											
TAF1C	9013	broad.mit.edu	37	chr16	84213255	84213255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagccactggctgcagccGgcagtgtcctgggaggtcca	14	13	1	0	rs145273391		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:84213255G>A	ENST00000567759.1	-	14	2084	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000341690.6_Silent_p.A540A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000570117.1_Silent_p.A302A	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	634					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)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCTGCAGCCGGCAGTGTCCT	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15461	0.0		0.0	False		,,,				2504	0.0					ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1900-1902)gcC>gcT		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa		G	,	1,4371		0,1,2185	15	17	17		1902,1620	1.7	0.9	16	dbSNP_134	17	0,8576		0,0,4288	no	coding-synonymous,coding-synonymous	TAF1C	NM_005679.3,NM_139353.2	,	0,1,6473	AA,AG,GG		0.0,0.0229,0.0077	,	634/870,540/776	84213255	1,12947	2186	4288	6474	SO:0001819	synonymous_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213255G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1902C>T	16.37:g.84213255G>A						TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000570117.1_Silent_p.A302A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000341690.6_Silent_p.A540A	p.A634A	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			14	2084	-			634					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	c.1902C>T	CCDS32496.1																																																																																				0.662	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		4	37	0	0	0	1	0	4	37					A	84213255	G	A	84213255	2	1	307	1	0	0	0	0	0	0	0	1	15518	1103	39	1		1	TAF1C	16	84213255	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	52742347	84213255	6141498	27	31008											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240511	39240511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagggctgcagccaagAcctctgtcaggagacctgct	12	13	2	3	rs383835	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:39240511A>T	ENST00000391417.4	+	1	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	18	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		D -> V. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCAGCCAAGACCTCTGTCAG	0.612													a|||	2763	0.551717	0.6445	0.6081	5008	,	,		14149	0.3879		0.6024	False		,,,				2504	0.5031					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(52-54)gAc>gTc		keratin associated protein 4-7							9	17	15					17																	39240511		677	1582	2259	SO:0001583	missense	100132476							g.chr17:39240511A>T	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.53A>T	17.37:g.39240511A>T	ENSP00000375236:p.Asp18Val						p.D18V	NM_033061.3	NP_149050.3					1	53	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.53A>T	CCDS45673.1	1033	0.47298534798534797	274	0.556910569105691	200	0.5524861878453039	184	0.32167832167832167	375	0.4947229551451187	.	0.459	-0.889937	0.02511	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00608	6.25	1.02	-1.55	0.08558	.	0.471385	0.15244	U	0.272684	T	0.00012	0.0000	.	.	.	0.53688	P	2.2999999999995246E-5	B	0.20261	0.043	B	0.12156	0.007	T	0.14924	-1.0455	8	0.45353	T	0.12	.	2.8192	0.05467	0.404:0.251:0.345:0.0	rs62068121	18	Q9BYR0	KRA47_HUMAN	V	18	ENSP00000375236:D18V	ENSP00000375236:D18V	D	+	2	0	KRTAP4-9;KRTAP4-7	36494037	0.086000	0.21541	0.114000	0.21550	0.074000	0.17049	0.065000	0.14466	-0.591000	0.05859	0.260000	0.18958	GAC		0.612	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			5	27	0	0	0	1	0	5	27					T	39240511	A	T	39240511	3	4	307	1	0	0	0	0	1	0	0	0	8555	275	10	5	55	5	KRTAP4-7	17	39240511	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		39240511	41954699	28	31009											
ZNF177	7730	broad.mit.edu	37	chr19	9492389	9492389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcagtgtgaaaaagcctTtagcacaagcactaacctta	6	9	1	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:9492389T>G	ENST00000589262.1	+	6	1448	c.1382T>G	c.(1381-1383)tTt>tGt	p.F461C	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C|ZNF177_ENST00000541595.2_Missense_Mutation_p.F301C|ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	461					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAAAAAGCCTTTAGCACAAGC	0.448																																						ENST00000541595.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(901-903)tTt>tGt		zinc finger protein 177							154	162	159					19																	9492389		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492389T>G	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1382T>G	19.37:g.9492389T>G	ENSP00000468531:p.Phe461Cys					ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.F461C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C	p.F301C	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN			12	1531	+			301					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.902T>G	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958823	0.53400	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.45668	0.89;0.89;0.89	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68796	0.3040	M	0.93241	3.395	0.27508	N	0.951765	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.78828	-0.2050	8	0.87932	D	0	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	461;301	B4DY57;Q13360	.;ZN177_HUMAN	C	301;301;461	ENSP00000445323:F301C;ENSP00000341497:F301C;ENSP00000415070:F461C	ENSP00000341497:F301C	F	+	2	0	ZNF177	9353389	1.000000	0.71417	0.442000	0.26870	0.909000	0.53808	4.809000	0.62591	1.404000	0.46819	0.460000	0.39030	TTT		0.448	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		32	151	0	0	0	1	0	32	151					G	9492389	T	G	9492389	3	3	307	1	0	0	0	0	1	0	0	0	17743	1841	64	5	1400	5	ZNF177	19	9492389	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08		9492389	49636594	29	31010											
KCNK6	9424	broad.mit.edu	37	chr19	38817239	38817239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttactcccctaggctatgGgtacacaacgccactgactg	8	14	0	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:38817239G>A	ENST00000263372.3	+	2	436	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	110					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTAGGCTATGGGTACACAACG	0.572																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(328-330)gGg>gAg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						101	101	101					19																	38817239		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817239G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.329G>A	19.37:g.38817239G>A	ENSP00000263372:p.Gly110Glu						p.G110E	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	436	+	all_cancers(60;5.83e-07)		110					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.329G>A	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567877	0.86439	.	.	ENSG00000099337	ENST00000263372	D	0.82893	-1.66	4.65	4.65	0.58169	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95449	0.8532	10	0.87932	D	0	.	15.0538	0.71897	0.0:0.0:1.0:0.0	.	110	Q9Y257	KCNK6_HUMAN	E	110	ENSP00000263372:G110E	ENSP00000263372:G110E	G	+	2	0	KCNK6	43509079	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.528000	0.98046	2.422000	0.82143	0.491000	0.48974	GGG		0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		8	134	0	0	0	1	0	8	134					A	38817239	G	A	38817239	3	1	307	1	0	0	0	0	1	0	0	0	8070	1232	43	2	335	2	KCNK6	19	38817239	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	29324850	38817239	20311744	30	31011											
C19orf48	84798	broad.mit.edu	37	chr19	51301519	51301519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggggtggctcctcccctaGcctgcaggaagcccttggta	14	14	0	0	rs144495841	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:51301519G>C	ENST00000598463.1	-	5	1285	c.187C>G	c.(187-189)Cta>Gta	p.L63V	SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000595794.1_5'Flank|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V|C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	63										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TCCTCCCCTAGCCTGCAGGAA	0.617													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		20123	0.0		0.0	False		,,,				2504	0.0					ENST00000598463.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(187-189)Cta>Gta		chromosome 19 open reading frame 48		G	VAL/LEU,VAL/LEU	39,4367	45.3+/-79.5	0,39,2164	126	115	119		187,187	0.9	0	19	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C19orf48	NM_199249.1,NM_199250.1	32,32	0,40,6463	CC,CG,GG		0.0116,0.8852,0.3076	probably-damaging,probably-damaging	63/118,63/118	51301519	40,12966	2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301519G>C	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"multidrug resistance-related protein"					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.187C>G	19.37:g.51301519G>C	ENSP00000471463:p.Leu63Val					C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V	p.L63V			Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	5	1285	-		all_neural(266;0.057)	63						Missense_Mutation	SNP	ENST00000598463.1	37	c.187C>G	CCDS12803.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	2.032	-0.422044	0.04734	0.008852	1.16E-4	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.30981	1.51;1.51	2.07	0.895	0.19247	.	.	.	.	.	T	0.19167	0.0460	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	P	0.53146	0.719	T	0.08106	-1.0738	9	0.42905	T	0.14	.	4.1264	0.10129	0.2444:0.0:0.7556:0.0	.	63	Q6RUI8	CS048_HUMAN	V	63	ENSP00000375688:L63V;ENSP00000301419:L63V	ENSP00000301419:L63V	L	-	1	2	C19orf48	55993331	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	0.603000	0.24149	0.355000	0.24131	-0.367000	0.07326	CTA		0.617	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712		6	122	0	0	0	1	0	6	122					C	51301519	G	C	51301519	3	2	307	1	0	0	0	0	1	0	0	0	1931	962	34	4	170	4	C19orf48	19	51301519	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	12484280	51301519	7827464	31	31012											
WNK3	65267	broad.mit.edu	37	chrX	54335536	54335536	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactttaatcaccaatgacaCtcttagcaaatgaggtacgc	6	10	2	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:54335536C>A	ENST00000375159.2	-	3	922	c.923G>T	c.(922-924)aGt>aTt	p.S308I	WNK3_ENST00000375169.3_Missense_Mutation_p.S308I|WNK3_ENST00000354646.2_Missense_Mutation_p.S308I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	308	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						ACCAATGACACTCTTAGCAAA	0.413																																						ENST00000354646.2																			0				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						c.(922-924)aGt>aTt		WNK lysine deficient protein kinase 3							92	73	79					X																	54335536		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54335536C>A	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.923G>T	X.37:g.54335536C>A	ENSP00000364301:p.Ser308Ile					WNK3_ENST00000375169.3_Missense_Mutation_p.S308I|WNK3_ENST00000375159.2_Missense_Mutation_p.S308I	p.S308I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			4	1361	-			308			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.923G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299425	0.81136	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.26223	1.75;1.75;1.75	4.77	4.77	0.60923	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	0.000011	T	0.47154	0.1430	L	0.53671	1.685	0.52099	D	0.999942	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.49072	-0.8977	10	0.87932	D	0	-9.1246	15.9501	0.79827	0.0:1.0:0.0:0.0	.	308;308	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	308	ENSP00000364312:S308I;ENSP00000346667:S308I;ENSP00000364301:S308I	ENSP00000346667:S308I	S	-	2	0	WNK3	54352261	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.688000	0.84153	2.102000	0.63906	0.415000	0.27848	AGT		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		16	48	1	0	9.16793e-09	1	9.72695e-09	16	48					A	54335536	C	A	54335536	3	1	307	1	0	0	0	0	1	0	0	0	17376	565	20	4	4563	4	WNK3	23	54335536	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		54335536	100935024	32	31013											
SAMD13	148418	broad.mit.edu	37	chr1	84764244	84764244	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctcccggcgcggccatgCggggaggtaagtgatctgcc	15	13	1	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:84764244C>T	ENST00000370671.3	+	0	0				SAMD13_ENST00000370673.3_Missense_Mutation_p.R2W			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13											lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CGCGGCCATGCGGGGAGGTAA	0.706																																						ENST00000370673.3																			0				lung(4)	4						c.(4-6)Cgg>Tgg		sterile alpha motif domain containing 13							12	14	13					1																	84764244		2175	4256	6431	SO:0001631	upstream_gene_variant	148418							g.chr1:84764244C>T		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"Sterile alpha motif (SAM) domain containing"	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859		1.37:g.84764244C>T	Exception_encountered						p.R2W	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN		all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)	1	196	+			0					B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	ENST00000370671.3	37	c.4C>T		.	.	.	.	.	.	.	.	.	.	C	15.70	2.910322	0.52439	.	.	ENSG00000203943	ENST00000370673	.	.	.	3.47	0.293	0.15742	.	1.544110	0.04800	U	0.433301	T	0.07413	0.0187	N	0.08118	0	0.25684	N	0.985767	D	0.67145	0.996	P	0.45428	0.48	T	0.10847	-1.0612	9	0.72032	D	0.01	.	5.2423	0.15479	0.0:0.414:0.4544:0.1316	.	2	Q5VXD3-2	.	W	2	.	ENSP00000359707:R2W	R	+	1	2	SAMD13	84536832	0.985000	0.35326	0.150000	0.22450	0.395000	0.30598	0.218000	0.17622	0.067000	0.16545	0.549000	0.68633	CGG		0.706	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		2	3	0	0	0	1	0	2	3					T	84764244	C	T	84764244	1	4	308	0	1	0	0	0	0	0	0	0	13818	759	27	1		1	SAMD13	1	84764244	5'Flank	SNP	C	TCGA-HT-8114-01A-11D-2395-08		84764244	164486377	1	31014											
C1D	10438	broad.mit.edu	37	chr2	68270036	68270036	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttaacttttacttttTcctttattggcaacttttga	4	6	0	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:68270036T>G	ENST00000355848.3	-	5	458	c.411A>C	c.(409-411)ggA>ggC	p.G137G	C1D_ENST00000410067.3_Silent_p.G137G|C1D_ENST00000407324.1_Silent_p.G176G|C1D_ENST00000409302.1_Silent_p.G137G			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	137	Interaction with NCOR1 and NCOR2. {ECO:0000250}.				apoptotic process (GO:0006915)|maturation of 5.8S rRNA (GO:0000460)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)			lung(2)|urinary_tract(1)	3						TTTTACTTTTTCCTTTATTGG	0.423																																						ENST00000355848.3																			0				lung(2)|urinary_tract(1)	3						c.(409-411)ggA>ggC		C1D nuclear receptor corepressor							20	22	22					2																	68270036		2201	4294	6495	SO:0001819	synonymous_variant	10438				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding	g.chr2:68270036T>G		CCDS1883.1	2p13-p12	2010-06-10	2010-06-10		ENSG00000197223	ENSG00000197223			29911	protein-coding gene	gene with protein product	"small unique nuclear receptor co-repressor"	606997	"C1D nuclear receptor co-repressor"			9469821, 17599775, 17412707, 11801738, 9405624	Standard	NM_006333		Approved	SUNCOR, SUN-CoR, LRP1	uc002seb.3	Q13901	OTTHUMG00000129564	ENST00000355848.3:c.411A>C	2.37:g.68270036T>G						C1D_ENST00000410067.3_Silent_p.G137G|C1D_ENST00000409302.1_Silent_p.G137G|C1D_ENST00000407324.1_Silent_p.G176G	p.G137G			Q13901	C1D_HUMAN			5	458	-			137			Interaction with NCOR1 and NCOR2 (By similarity).		A8K336|D6W5F8|Q05D64	Silent	SNP	ENST00000355848.3	37	c.411A>C	CCDS1883.1																																																																																				0.423	C1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251757.3	NM_006333		4	8	0	0	0	1	0	4	8					G	68270036	T	G	68270036	2	3	308	1	0	0	0	0	0	0	0	1	1951	1770	62	5		5	C1D	2	68270036	Silent	SNP	T	TCGA-HT-8114-01A-11D-2395-08		68270036	174929337	2	31015											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	47	0	0	0	1	0	42	47					T	209113112	C	T	209113112	3	4	308	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	140843076	209113112	34086261	3	31016											
GPR98	84059	broad.mit.edu	37	chr5	90086940	90086940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccacatggagtatttgCcctgtattcggatcgccagt	10	11	0	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:90086940C>T	ENST00000405460.2	+	70	14390	c.14294C>T	c.(14293-14295)gCc>gTc	p.A4765V	GPR98_ENST00000425867.2_Missense_Mutation_p.A426V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4765					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)		GGAGTATTTGCCCTGTATTCG	0.448																																						ENST00000405460.2																			0				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						c.(14293-14295)gCc>gTc		G protein-coupled receptor 98							118	106	110					5																	90086940		1913	4118	6031	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90086940C>T	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.14294C>T	5.37:g.90086940C>T	ENSP00000384582:p.Ala4765Val					GPR98_ENST00000425867.2_Missense_Mutation_p.A426V	p.A4765V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14390	+		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)	4765					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.14294C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246043	0.22796	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.36157	1.27;1.27	5.77	5.77	0.91146	.	0.200375	0.52532	D	0.000061	T	0.32734	0.0839	L	0.38953	1.18	0.33166	D	0.547609	B;B;P	0.35155	0.355;0.15;0.487	B;B;B	0.39503	0.158;0.027;0.301	T	0.46569	-0.9182	10	0.39692	T	0.17	.	12.3063	0.54904	0.0:0.9232:0.0:0.0768	.	426;4765;426	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	4765;4765;426	ENSP00000384582:A4765V;ENSP00000392618:A426V	ENSP00000296619:A4765V	A	+	2	0	GPR98	90122696	0.999000	0.42202	0.995000	0.50966	0.126000	0.20510	3.682000	0.54656	2.737000	0.93849	0.561000	0.74099	GCC		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	31	0	0	0	1	0	3	31					T	90086940	C	T	90086940	3	4	308	1	0	0	0	0	1	0	0	0	6721	739	26	2	14572	2	GPR98	5	90086940	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08		90086940	90828320	4	31017											
PCDH12	51294	broad.mit.edu	37	chr5	141325159	141325159	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatctccagcagtgaGctcatctccgagacaaaggt	10	12	3	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:141325159G>C	ENST00000231484.3	-	4	4552	c.3342C>G	c.(3340-3342)agC>agG	p.S1114R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1114					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)			CCAGCAGTGAGCTCATCTCCG	0.662																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(3340-3342)agC>agG		protocadherin 12							52	47	49					5																	141325159		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141325159G>C	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.3342C>G	5.37:g.141325159G>C	ENSP00000231484:p.Ser1114Arg						p.S1114R	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	4552	-		all_hematologic(541;0.0999)	1114					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.3342C>G	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657260	0.88154	.	.	ENSG00000113555	ENST00000231484	T	0.61980	0.06	6.07	6.07	0.98685	.	0.094501	0.64402	D	0.000001	T	0.74076	0.3669	M	0.70275	2.135	0.49389	D	0.99978	D	0.63880	0.993	P	0.60949	0.881	T	0.76011	-0.3115	10	0.72032	D	0.01	.	11.4039	0.49885	0.0811:0.0:0.9189:0.0	.	1114	Q9NPG4	PCD12_HUMAN	R	1114	ENSP00000231484:S1114R	ENSP00000231484:S1114R	S	-	3	2	PCDH12	141305343	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.353000	0.66034	2.884000	0.98904	0.655000	0.94253	AGC		0.662	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	44	0	0	0	1	0	5	44					C	141325159	G	C	141325159	3	2	308	1	0	0	0	0	1	0	0	0	11510	962	34	4	216	4	PCDH12	5	141325159	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	51238219	141325159	39590101	5	31018											
FAT2	2196	broad.mit.edu	37	chr5	150932869	150932869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagagggatggaggacGgccggggccaagggatccac	19	10	0	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:150932869G>A	ENST00000261800.5	-	5	4037	c.4025C>T	c.(4024-4026)cCg>cTg	p.P1342L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1342	Cadherin 11. {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)			GATGGAGGACGGCCGGGGCCA	0.582																																						ENST00000261800.5																			0				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						c.(4024-4026)cCg>cTg		FAT atypical cadherin 2							96	79	85					5																	150932869		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150932869G>A	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.4025C>T	5.37:g.150932869G>A	ENSP00000261800:p.Pro1342Leu						p.P1342L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4037	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1342			Cadherin 11.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4025C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326147	0.60743	.	.	ENSG00000086570	ENST00000261800	T	0.71579	-0.58	5.49	5.49	0.81192	Cadherin (1);	0.097640	0.45606	D	0.000342	T	0.70544	0.3236	L	0.52905	1.665	0.80722	D	1	D	0.58620	0.983	P	0.47102	0.537	T	0.66705	-0.5856	10	0.14656	T	0.56	.	18.3976	0.90504	0.0:0.0:1.0:0.0	.	1342	Q9NYQ8	FAT2_HUMAN	L	1342	ENSP00000261800:P1342L	ENSP00000261800:P1342L	P	-	2	0	FAT2	150913062	1.000000	0.71417	0.991000	0.47740	0.132000	0.20833	9.338000	0.96553	2.583000	0.87209	0.561000	0.74099	CCG		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		21	50	0	0	0	1	0	21	50					A	150932869	G	A	150932869	3	1	308	1	0	0	0	0	1	0	0	0	5690	1116	39	1	9100	1	FAT2	5	150932869	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	9607710	150932869	29982391	6	31019											
BCLAF1	9774	broad.mit.edu	37	chr6	136597485	136597486	+	Frame_Shift_Del	DEL	TT	TT	-													ccccttctgaatcattaaacTtttgttttccagactcttta							TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136597485_136597486delTT	ENST00000531224.1	-	5	1429_1430	c.1177_1178delAA	c.(1177-1179)aagfs	p.K393fs	BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K393fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K391fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	393					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)		ATCATTAAACTTTTGTTTTCCA	0.436																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1177-1179)gfs		BCL2-associated transcription factor 1																																				SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597485_136597486delTT	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.1177_1178delAA	6.37:g.136597487_136597488delTT	ENSP00000435210:p.Lys393fs					BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K393fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K391fs	p.K393fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1429_1430	-	Colorectal(23;0.24)		393					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	c.1177_1178delAA	CCDS5177.1																																																																																				0.436	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		11	574						11	574	---	---	---	---	-	136597486	TT	-	136597485	7	5	308	1	0	1	0	1	0	0	0	0	1383	1609	56	0	1620	0	BCLAF1	6	136597485	Frame_Shift_Del	DEL	TT	TCGA-HT-8114-01A-11D-2395-08		136597485	34517582	7	31020											
MAP7	9053	broad.mit.edu	37	chr6	136682203	136682203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctcctccgcctgccgCtgcagctgctcctccttctc	8	22	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136682203C>T	ENST00000354570.3	-	12	2051	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	MAP7_ENST00000454590.1_Silent_p.Q569Q|MAP7_ENST00000438100.2_Silent_p.Q532Q|MAP7_ENST00000432797.2_Silent_p.Q401Q|MAP7_ENST00000544465.1_Silent_p.Q532Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	547					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCGCCTGCCGCTGCAGCTGCT	0.731																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1639-1641)caG>caA		microtubule-associated protein 7							11	13	12					6																	136682203		2194	4277	6471	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136682203C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1641G>A	6.37:g.136682203C>T						MAP7_ENST00000438100.2_Silent_p.Q532Q|MAP7_ENST00000454590.1_Silent_p.Q569Q|MAP7_ENST00000544465.1_Silent_p.Q532Q|MAP7_ENST00000432797.2_Silent_p.Q401Q	p.Q547Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	12	2051	-	Colorectal(23;0.24)		547					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1641G>A	CCDS5178.1																																																																																				0.731	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		10	6	0	0	0	1	0	10	6					T	136682203	C	T	136682203	2	4	308	1	0	0	0	0	0	0	0	1	9266	796	28	2		2	MAP7	6	136682203	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08	84718	136682203	34432864	8	31021											
ATAD2	29028	broad.mit.edu	37	chr8	124351613	124351613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattaaatcttcaaaaaatTttgtccgttcttctttatcc	3	8	4	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr8:124351613T>C	ENST00000287394.5	-	20	2899	c.2792A>G	c.(2791-2793)aAa>aGa	p.K931R	ATAD2_ENST00000521903.1_Missense_Mutation_p.K249R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	931					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)			TTCAAAAAATTTTGTCCGTTC	0.274																																						ENST00000287394.5																			0				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						c.(2791-2793)aAa>aGa		ATPase family, AAA domain containing 2							51	51	51					8																	124351613		2198	4291	6489	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124351613T>C	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.2792A>G	8.37:g.124351613T>C	ENSP00000287394:p.Lys931Arg					ATAD2_ENST00000521903.1_Missense_Mutation_p.K249R	p.K931R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		20	2899	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		931					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2792A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988404	0.35036	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.82619	-1.63;-1.63	5.49	4.25	0.50352	.	0.578198	0.21060	N	0.080844	T	0.64616	0.2614	N	0.17764	0.52	0.29836	N	0.829652	B	0.12013	0.005	B	0.09377	0.004	T	0.51228	-0.8732	10	0.16420	T	0.52	-17.7913	3.184	0.06594	0.1395:0.077:0.1451:0.6384	.	931	Q6PL18	ATAD2_HUMAN	R	931;249	ENSP00000287394:K931R;ENSP00000429213:K249R	ENSP00000287394:K931R	K	-	2	0	ATAD2	124420794	0.255000	0.24002	1.000000	0.80357	0.987000	0.75469	0.320000	0.19540	2.194000	0.70268	0.533000	0.62120	AAA		0.274	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		11	24	0	0	0	1	0	11	24					C	124351613	T	C	124351613	3	2	308	1	0	0	0	0	1	0	0	0	1071	1841	64	3	1416	3	ATAD2	8	124351613	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		124351613	22012409	9	31022											
AGAP6	414189	broad.mit.edu	37	chr10	51769670	51769670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgctgcgggccacCgctgatgaggacctgcagac	14	14	0	3	rs201151847	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr10:51769670C>T	ENST00000374056.4	+	7	2114	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	AGAP6_ENST00000412531.3_Silent_p.T595T			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	572					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T595T(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGCGGGCCACCGCTGATGAGG	0.627													.|||	331	0.0660942	0.1369	0.0231	5008	,	,		19932	0.0248		0.0586	False		,,,				2504	0.0511					ENST00000374056.4																			1	Substitution - coding silent(1)	p.T595T(1)	stomach(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(1714-1716)acC>acT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51769670C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1716C>T	10.37:g.51769670C>T						AGAP6_ENST00000412531.3_Silent_p.T595T	p.T572T			C9IYN2	C9IYN2_HUMAN			7	2114	+			595						Silent	SNP	ENST00000374056.4	37	c.1716C>T																																																																																					0.627	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		7	116	0	0	0	1	0	7	116					T	51769670	C	T	51769670	2	4	308	1	0	0	0	0	0	0	0	1	372	639	23	1		1	AGAP6	10	51769670	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		51769670	83765077	10	31023											
ROM1	6094	broad.mit.edu	37	chr11	62380964	62380964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgccctggcagcgggcGcggtggctctgggcacagga	19	12	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:62380964G>A	ENST00000278833.3	+	1	752	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	EML3_ENST00000494176.2_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000529309.1_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	71					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GGCAGCGGGCGCGGTGGCTCT	0.667																																						ENST00000278833.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						c.(211-213)Gcg>Acg		retinal outer segment membrane protein 1							51	41	44					11																	62380964		2202	4299	6501	SO:0001583	missense	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62380964G>A	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.211G>A	11.37:g.62380964G>A	ENSP00000278833:p.Ala71Thr					ROM1_ENST00000534093.1_Intron	p.A71T	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN			1	752	+			71					B2R978	Missense_Mutation	SNP	ENST00000278833.3	37	c.211G>A	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	G	4.235	0.042565	0.08196	.	.	ENSG00000149489	ENST00000278833	T	0.80653	-1.4	4.54	-0.629	0.11533	.	0.833081	0.10935	N	0.617945	T	0.63343	0.2503	N	0.20685	0.6	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.49184	-0.8966	10	0.44086	T	0.13	-4.8799	5.076	0.14632	0.4417:0.1475:0.4108:0.0	.	71	Q03395	ROM1_HUMAN	T	71	ENSP00000278833:A71T	ENSP00000278833:A71T	A	+	1	0	ROM1	62137540	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.299000	0.19138	-0.298000	0.08921	-0.643000	0.03959	GCG		0.667	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		5	26	0	0	0	1	0	5	26					A	62380964	G	A	62380964	3	1	308	1	0	0	0	0	1	0	0	0	13521	1087	38	1	213	1	ROM1	11	62380964	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08		62380964	72625552	11	31024											
SRPR	6734	broad.mit.edu	37	chr11	126134414	126134414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgtccaccagcaccaCgtcaaagccttggttacgtg	10	14	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:126134414C>T	ENST00000332118.6	-	12	1700	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SRPR_ENST00000532259.1_Missense_Mutation_p.V488M	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	516					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGCACCACGTCAAAGCCT	0.507																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1546-1548)Gtg>Atg		signal recognition particle receptor (docking protein)							86	72	77					11																	126134414		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134414C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1546G>A	11.37:g.126134414C>T	ENSP00000328023:p.Val516Met					SRPR_ENST00000532259.1_Missense_Mutation_p.V488M	p.V516M	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	12	1700	-	all_hematologic(175;0.145)		516					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1546G>A	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505643	0.85282	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.43	5.43	0.79202	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.88614	0.3158	9	0.87932	D	0	-16.918	19.4521	0.94872	0.0:1.0:0.0:0.0	.	488;516	E9PJS4;P08240	.;SRPR_HUMAN	M	516;488	.	ENSP00000328023:V516M	V	-	1	0	SRPR	125639624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.826000	0.97356	0.637000	0.83480	GTG		0.507	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		7	58	0	0	0	1	0	7	58					T	126134414	C	T	126134414	3	4	308	1	0	0	0	0	1	0	0	0	15161	536	19	1	382	1	SRPR	11	126134414	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	63753450	126134414	8872102	12	31025											
GAS6	2621	broad.mit.edu	37	chr13	114531664	114531664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgatgaccagattccgCgccagctcctcaacagagat	8	14	1	4	rs375788560		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr13:114531664C>T	ENST00000327773.6	-	11	1310	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.A334A|GAS6_ENST00000357389.3_Silent_p.A431A|GAS6_ENST00000418959.3_Silent_p.A89A|GAS6_ENST00000450766.1_Silent_p.A115A	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	431	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				CCAGATTCCGCGCCAGCTCCT	0.537																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1291-1293)gcG>gcA		growth arrest-specific 6			,,	0,4402		0,0,2201	89	87	87		1164,345,267	-9.9	0	13		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	388/679,115/406,89/380	114531664	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114531664C>T		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.1164G>A	13.37:g.114531664C>T						GAS6_ENST00000418959.3_Silent_p.A89A|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.A115A|GAS6_ENST00000327773.6_Silent_p.A388A|GAS6_ENST00000355761.4_Silent_p.A334A	p.A431A			Q14393	GAS6_HUMAN			11	1445	-	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)	431			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.1293G>A	CCDS45072.1																																																																																				0.537	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		13	71	0	0	0	1	0	13	71					T	114531664	C	T	114531664	2	4	308	1	0	0	0	0	0	0	0	1	6249	755	27	1		1	GAS6	13	114531664	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		114531664	638214	13	31026											
ZC3H14	79882	broad.mit.edu	37	chr14	89044401	89044401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaattgctagcagaagtggTccagggacaaagtaggaccc	13	8	0	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:89044401T>C	ENST00000251038.5	+	9	1421	c.1196T>C	c.(1195-1197)gTc>gCc	p.V399A	ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V365A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V399A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V399A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000557607.1_Missense_Mutation_p.V244A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V365A	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	399						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCAGAAGTGGTCCAGGGACAA	0.388																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1195-1197)gTc>gCc		zinc finger CCCH-type containing 14							89	91	90					14																	89044401		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044401T>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"Zinc fingers, CCCH-type domain containing"	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1196T>C	14.37:g.89044401T>C	ENSP00000251038:p.Val399Ala					ZC3H14_ENST00000302216.8_Missense_Mutation_p.V399A|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.V244A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V365A|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V365A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V399A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V399A	p.V399A	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			9	1421	+			399					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1196T>C	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.24|12.24	1.880031|1.880031	0.33162|0.33162	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.51|5.51	1.88|1.88	0.25563|0.25563	.|.	.|0.244651	.|0.41605	.|N	.|0.000859	T|T	0.28797|0.28797	0.0714|0.0714	N|N	0.19112|0.19112	0.55|0.55	0.31501|0.31501	N|N	0.66473|0.66473	.|B;B;B;B;B;B	.|0.10296	.|0.0;0.001;0.0;0.001;0.003;0.001	.|B;B;B;B;B;B	.|0.10450	.|0.001;0.002;0.004;0.005;0.005;0.004	T|T	0.16837|0.16837	-1.0389|-1.0389	5|9	.|0.33940	.|T	.|0.23	-0.3215|-0.3215	8.2353|8.2353	0.31622|0.31622	0.0:0.2216:0.0:0.7784|0.0:0.2216:0.0:0.7784	.|.	.|399;380;399;399;399;399	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	P|A	315|399;399;399;365;399;380;399;244;399;399;365	.|.	.|ENSP00000251038:V399A	S|V	+|+	1|2	0|0	ZC3H14|ZC3H14	88114154|88114154	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	2.706000|2.706000	0.47135|0.47135	0.140000|0.140000	0.18849|0.18849	0.528000|0.528000	0.53228|0.53228	TCC|GTC		0.388	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		27	73	0	0	0	1	0	27	73					C	89044401	T	C	89044401	3	2	308	1	0	0	0	0	1	0	0	0	17563	1667	58	3	1230	3	ZC3H14	14	89044401	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		89044401	18305139	14	31027											
PPP2R5C	5527	broad.mit.edu	37	chr14	102323220	102323220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttacccagaagtagtccatAtggtaagtgattacagttta	8	6	0	2	rs142106753		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:102323220A>G	ENST00000334743.5	+	2	340	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.M98V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.M153V|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.M129V	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	98					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTAGTCCATATGGTAAGTGA	0.418													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.0					ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(385-387)Atg>Gtg		protein phosphatase 2, regulatory subunit B', gamma		A	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	91	80	84		385,457,292,292,292	5.7	1	14	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	PPP2R5C	NM_001161725.1,NM_001161726.1,NM_002719.3,NM_178586.2,NM_178587.2	21,21,21,21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	129/556,153/541,98/525,98/486,98/450	102323220	1,13005	2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102323220A>G	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.292A>G	14.37:g.102323220A>G	ENSP00000333905:p.Met98Val					PPP2R5C_ENST00000557095.1_Missense_Mutation_p.M98V|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.M98V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.M153V	p.M129V	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			4	481	+			98					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.385A>G	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196792	0.58126	2.27E-4	0.0	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.59772	0.31;0.28;0.3;0.28;0.24	5.7	5.7	0.88788	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.93550	3.43	0.80722	D	1	D;P;B;P;P;B	0.56968	0.978;0.954;0.107;0.858;0.458;0.316	P;B;B;B;P;B	0.62089	0.898;0.443;0.104;0.441;0.517;0.398	D	0.85724	0.1327	10	0.62326	D	0.03	-25.0801	15.9707	0.80013	1.0:0.0:0.0:0.0	.	98;129;98;98;98;153	B4DI74;F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	V	129;153;127;98;98;98;98;98	ENSP00000412324:M129V;ENSP00000329009:M153V;ENSP00000450931:M127V;ENSP00000262239:M98V;ENSP00000333905:M98V	ENSP00000329009:M153V	M	+	1	0	PPP2R5C	101392973	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	7.526000	0.81920	2.177000	0.69029	0.459000	0.35465	ATG		0.418	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		5	94	0	0	0	1	0	5	94					G	102323220	A	G	102323220	3	3	308	1	0	0	0	0	1	0	0	0	12394	449	16	3	667	3	PPP2R5C	14	102323220	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08	13278819	102323220	5026320	15	31028											
TP53	7157	broad.mit.edu	37	chr17	7578291	7578291	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggaggggccagaccTaagagcaatcagtgaggaat	15	7	1	4			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578291T>C	ENST00000269305.4	-	6	749		c.e6-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_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						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGCCAGACCTAAGAGCAATC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		30	Unknown(16)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(7)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|liver(3)|central_nervous_system(2)|breast(2)|thyroid(1)|stomach(1)|kidney(1)|urinary_tract(1)|oesophagus(1)|ovary(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	GRCh37	CS941545	TP53	S		c.e6-2	Other conserved DNA damage response genes	tumor protein p53							80	72	75					17																	7578291		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578291T>C	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.560-2A>G	17.37:g.7578291T>C		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)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.581	0.882370	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9475	0.47310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519016	0.998000	0.40836	0.996000	0.52242	0.034000	0.12701	2.807000	0.47955	1.912000	0.55364	0.460000	0.39030	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	28	16	0	0	0	1	0	28	16					C	7578291	T	C	7578291	5	2	308	1	0	0	0	0	0	0	1	0	16378	1536	53	3	736	3	TP53	17	7578291	Splice_Site	SNP	T	TCGA-HT-8114-01A-11D-2395-08		7578291	73616919	16	31029			1	34		2	2	104	T		7.985012e-05
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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)				TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	56	0	0	0	1	0	10	56					C	7578394	T	C	7578394	3	2	308	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08	103	7578394	73616816	17	31030			1	34		2	2	104	T		7.985012e-05
ZNF235	9310	broad.mit.edu	37	chr19	44793178	44793178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgacagggggaatcaTggtgcttggggaactgagag	16	7	1	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr19:44793178T>C	ENST00000291182.4	-	5	512	c.410A>G	c.(409-411)cAt>cGt	p.H137R	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	137					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGGGAATCATGGTGCTTGGG	0.438																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(409-411)cAt>cGt		zinc finger protein 235							97	99	98					19																	44793178		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44793178T>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.410A>G	19.37:g.44793178T>C	ENSP00000291182:p.His137Arg					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.H137R	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	512	-		Prostate(69;0.0352)|all_neural(266;0.116)	137					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.410A>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254204	0.39896	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	T	0.04654	3.58	3.36	-5.69	0.02428	.	2.496480	0.01631	N	0.023532	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.0	B;B	0.25140	0.058;0.0	T	0.40346	-0.9568	10	0.22706	T	0.39	.	3.6493	0.08196	0.1195:0.49:0.1204:0.2702	.	133;137	Q14590-2;Q14590	.;ZN235_HUMAN	R	133;137;137;59	ENSP00000291182:H137R	ENSP00000291182:H137R	H	-	2	0	ZNF235	49485018	0.000000	0.05858	0.000000	0.03702	0.901000	0.52897	-2.617000	0.00881	-1.254000	0.02485	0.379000	0.24179	CAT		0.438	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			9	113	0	0	0	1	0	9	113					C	44793178	T	C	44793178	3	2	308	1	0	0	0	0	1	0	0	0	17785	1464	51	3	1810	3	ZNF235	19	44793178	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		44793178	14335805	18	31031											
PRNP	5621	broad.mit.edu	37	chr20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggggccttggcggctacAtgctgggaagtgccatgagc	18	9	0	1	rs1799990	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGGCGGCTACATGCTGGGAAG	0.547													A|||	1335	0.266573	0.3525	0.4063	5008	,	,		16338	0.0248		0.325	False		,,,				2504	0.2403					ENST00000379440.4																			2	Substitution - Missense(2)	p.M129V(2)	central_nervous_system(1)|skin(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14	GRCh37	CM890104	PRNP	M	rs1799990	c.(385-387)Atg>Gtg		prion protein	Tetracycline(DB00759)	A	VAL/MET,VAL/MET,VAL/MET,VAL/MET,VAL/MET	1504,2902	476.6+/-357.7	261,982,960	72	56	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	385,385,385,385,385	2.9	1	20	dbSNP_89	62	2889,5711	452.0+/-362.8	486,1917,1897	yes	missense,missense,missense,missense,missense	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	21,21,21,21,21	747,2899,2857	GG,GA,AA	http://www.ncbi.nlm.nih.gov/pubmed?term	33.593,34.1353,33.7767	benign,benign,benign,benign,benign	129/254,129/254,129/254,129/254,129/254	4680251	4393,8613	2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680251A>G	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.385A>G	20.37:g.4680251A>G	ENSP00000368752:p.Met129Val					PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	672	+			129		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).	Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.385A>G	CCDS13080.1	576	0.26373626373626374	172	0.34959349593495936	140	0.3867403314917127	12	0.02097902097902098	252	0.3324538258575198	A	11.91	1.778679	0.31502	0.341353	0.33593	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;T	0.91996	-2.95;-2.95;-2.95;-1.42	5.3	2.93	0.34026	Prion/Doppel protein, beta-ribbon domain (2);	0.219208	0.38720	N	0.001589	T	0.00012	0.0000	L	0.47716	1.5	0.30001	P	0.8160000000000001	B;B;B	0.25235	0.009;0.082;0.121	B;B;B	0.22601	0.012;0.036;0.04	T	0.04693	-1.0933	9	0.66056	D	0.02	-2.3944	5.8372	0.18613	0.6585:0.1745:0.0:0.167	rs1799990;rs17850971;rs17858648;rs52800775;rs1799990	129;129;161	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	V	129;129;129;68;129	ENSP00000368752:M129V;ENSP00000399376:M129V;ENSP00000411599:M129V;ENSP00000415284:M129V	ENSP00000368752:M129V	M	+	1	0	PRNP	4628251	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.521000	0.22893	0.281000	0.22233	0.533000	0.62120	ATG		0.547	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		6	79	0	0	0	1	0	6	79					G	4680251	A	G	4680251	3	3	308	1	0	0	0	0	1	0	0	0	12544	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08		4680251	58345269	19	31032											
ITSN1	6453	broad.mit.edu	37	chr21	35183494	35183494	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcttcagagccctccacGacccctaataactgggccga	7	17	2	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T|ITSN1_ENST00000437442.2_Silent_p.T840T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2533-2535)acG>acA		intersectin 1 (SH3 domain protein)							87	81	83					21																	35183494		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183494G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2535G>A	21.37:g.35183494G>A						ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000381291.4_Silent_p.T845T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000399338.4_Silent_p.T840T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Silent_p.T840T	p.T845T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			21	2823	+			845					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.2535G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958029	0.18507	.	.	ENSG00000205726	ENST00000440794	.	.	.	5.9	-9.33	0.00639	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.19451	-1.0305	4	.	.	.	.	5.5602	0.17140	0.4795:0.3105:0.1373:0.0728	.	.	.	.	N	80	.	.	D	+	1	0	ITSN1	34105364	0.005000	0.15991	0.100000	0.21137	0.988000	0.76386	-0.402000	0.07223	-1.853000	0.01165	-0.251000	0.11542	GAC		0.547	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		10	102	0	0	0	1	0	10	102					A	35183494	G	A	35183494	2	1	308	1	0	0	0	0	0	0	0	1	7926	1045	37	1		1	ITSN1	21	35183494	Silent	SNP	G	TCGA-HT-8114-01A-11D-2395-08		35183494	12946401	20	31033											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	42						7	42	---	---	---	---	-	72433666	TCC	-	72433664	7	5	308	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-HT-8114-01A-11D-2395-08		72433664	82836896	21	31034											
ATRX	546	broad.mit.edu	37	chrX	76937602	76937603	+	Frame_Shift_Ins	INS	-	-	T													tttagaagttttatctcttaINStttttttacttttcttttct							TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76937602_76937603insT	ENST00000373344.5	-	9	3359_3360	c.3145_3146insA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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						TTTATCTCTTATTTTTTTACTT	0.327			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3145-3147)aagfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937602_76937603insT	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.3146dupA	X.37:g.76937609_76937609dupT	ENSP00000362441:p.Ile1049fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1011fs|ATRX_ENST00000480283.1_5'UTR	p.K1049fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3359_3360	-			1049					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3145_3146insA	CCDS14434.1																																																																																				0.327	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		36	45						36	45	---	---	---	---	T	76937603	-	T	76937602	7	5	308	1	0	1	1	0	0	0	0	0	1208	449	16	0	4440	0	ATRX	23	76937602	Frame_Shift_Ins	INS	-	TCGA-HT-8114-01A-11D-2395-08	4503938	76937602	78332958	22	31035											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													gccttctgctgaagagaaagTctctctctcttgttttcttt					rs141180098		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					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.E886fs*18(1)|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						GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Unknown(1)|Deletion - Frameshift(1)	p.E886fs*18(1)|p.?(1)	central_nervous_system(1)|bone(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						c.(2656-2661)ctfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938089_76938092delTCTC	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.2656_2659delGAGA	X.37:g.76938093_76938096delTCTC	ENSP00000362441:p.Glu886fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs|ATRX_ENST00000480283.1_5'UTR	p.ET886fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2870_2873	-			886					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2656_2659delGAGA	CCDS14434.1																																																																																				0.412	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		25	208						25	208	---	---	---	---	-	76938092	TCTC	-	76938089	7	5	308	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-HT-8114-01A-11D-2395-08	487	76938089	78332471	23	31036											
HDX	139324	broad.mit.edu	37	chrX	83724060	83724060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacctttgaatcccaactGgttcaattttacaaggtcgg	8	9	1	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:83724060G>T	ENST00000297977.5	-	3	782	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	HDX_ENST00000373177.2_Missense_Mutation_p.P224Q|HDX_ENST00000506585.2_Missense_Mutation_p.P166Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	224						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATCCCAACTGGTTCAATTTT	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(670-672)cCa>cAa		highly divergent homeobox							136	119	125					X																	83724060		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724060G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.671C>A	X.37:g.83724060G>T	ENSP00000297977:p.Pro224Gln					HDX_ENST00000506585.2_Missense_Mutation_p.P166Q|HDX_ENST00000373177.2_Missense_Mutation_p.P224Q	p.P224Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	782	-			224					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.671C>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054287	0.55218	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.55413	1.64;1.24;1.64;0.52	4.92	4.92	0.64577	.	0.057855	0.64402	D	0.000001	T	0.60431	0.2268	L	0.46157	1.445	0.40308	D	0.978681	D	0.64830	0.994	P	0.58077	0.832	T	0.64664	-0.6354	10	0.72032	D	0.01	-17.1276	13.0156	0.58754	0.0826:0.0:0.9174:0.0	.	224	Q7Z353	HDX_HUMAN	Q	224;166;224;166	ENSP00000297977:P224Q;ENSP00000362272:P166Q;ENSP00000423670:P224Q;ENSP00000387790:P166Q	ENSP00000297977:P224Q	P	-	2	0	HDX	83610716	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.519000	0.53458	2.415000	0.81967	0.513000	0.50165	CCA		0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		10	81	1	0	3.86212e-05	1	4.08281e-05	10	81					T	83724060	G	T	83724060	3	4	308	1	0	0	0	0	1	0	0	0	7026	1348	47	4	1433	4	HDX	23	83724060	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	6785971	83724060	71546500	24	31037											
MRPS9	64965	broad.mit.edu	37	chr2	105708997	105708997	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaacctgtacagtatgatGagcaaggaatggcctttagc	11	7	0	3	rs147161518	byFrequency	TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr2:105708997G>A	ENST00000258455.3	+	8	900	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	264					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						ACAGTATGATGAGCAAGGAAT	0.368													G|||	6	0.00119808	0.0	0.0043	5008	,	,		17211	0.0		0.003	False		,,,				2504	0.0					ENST00000258455.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(790-792)Gag>Aag		mitochondrial ribosomal protein S9		G	LYS/GLU	7,4399	12.9+/-30.5	0,7,2196	119	122	121		790	4.7	0.6	2	dbSNP_134	121	54,8546	34.3+/-88.2	0,54,4246	yes	missense	MRPS9	NM_182640.2	56	0,61,6442	AA,AG,GG		0.6279,0.1589,0.469	possibly-damaging	264/397	105708997	61,12945	2203	4300	6503	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105708997G>A		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.790G>A	2.37:g.105708997G>A	ENSP00000258455:p.Glu264Lys						p.E264K	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			8	900	+			264					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.790G>A	CCDS2065.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	G	15.27	2.783817	0.49891	0.001589	0.006279	ENSG00000135972	ENST00000258455	D	0.92348	-3.02	5.61	4.71	0.59529	.	0.359615	0.33438	N	0.004916	D	0.86239	0.5885	L	0.52364	1.645	0.46044	D	0.998836	P	0.36990	0.577	B	0.33568	0.166	D	0.87090	0.2172	10	0.49607	T	0.09	-27.1935	16.6325	0.85037	0.0:0.1301:0.8699:0.0	.	264	P82933	RT09_HUMAN	K	264	ENSP00000258455:E264K	ENSP00000258455:E264K	E	+	1	0	MRPS9	105075429	1.000000	0.71417	0.619000	0.29118	0.989000	0.77384	4.529000	0.60588	1.459000	0.47892	0.655000	0.94253	GAG		0.368	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		4	62	0	0	0	1	0	4	62					A	105708997	G	A	105708997	3	1	309	1	0	0	0	0	1	0	0	0	9849	1291	45	2	820	2	MRPS9	2	105708997	Missense_Mutation	SNP	G	TCGA-HT-8558-01A-21D-2395-08		105708997	137490376	1	31038											
EML5	161436	broad.mit.edu	37	chr14	89154773	89154773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatcattgtgtcattttTccccagtgtgcctatgtagc	7	11	2	0	rs200233124		TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr14:89154773T>C	ENST00000380664.5	-	18	2583	c.2584A>G	c.(2584-2586)Aaa>Gaa	p.K862E	EML5_ENST00000352093.5_Intron|EML5_ENST00000554922.1_Missense_Mutation_p.K862E			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	862						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						GTGTCATTTTTCCCCAGTGTG	0.388																																						ENST00000554922.1																			0				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						c.(2584-2586)Aaa>Gaa		echinoderm microtubule associated protein like 5							263	250	254					14																	89154773		1923	4141	6064	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89154773T>C	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.2584A>G	14.37:g.89154773T>C	ENSP00000370039:p.Lys862Glu					EML5_ENST00000352093.5_Intron|EML5_ENST00000380664.5_Missense_Mutation_p.K862E	p.K862E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			18	2832	-			862					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2584A>G	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066603	0.55539	.	.	ENSG00000165521	ENST00000554922;ENST00000380664	T;T	0.47528	0.84;0.88	5.1	5.1	0.69264	Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.220980	0.31648	N	0.007287	T	0.39708	0.1088	L	0.36672	1.1	0.80722	D	1	B	0.33238	0.403	B	0.35353	0.201	T	0.19549	-1.0302	10	0.22109	T	0.4	-14.3301	14.7154	0.69265	0.0:0.0:0.0:1.0	.	862	Q05BV3	EMAL5_HUMAN	E	862	ENSP00000451998:K862E;ENSP00000370039:K862E	ENSP00000370039:K862E	K	-	1	0	EML5	88224526	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.525000	0.81892	2.130000	0.65690	0.533000	0.62120	AAA		0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			10	174	0	0	0	1	0	10	174					C	89154773	T	C	89154773	3	2	309	1	0	0	0	0	1	0	0	0	5100	1792	62	3	3453	3	EML5	14	89154773	Missense_Mutation	SNP	T	TCGA-HT-8558-01A-21D-2395-08		89154773	18194767	2	31039											
ZNF682	91120	broad.mit.edu	37	chr19	20117231	20117231	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctctccgctatgaattacCttatgttcagtaagaattga	6	8	2	3	rs199794786		TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr19:20117231C>G	ENST00000397165.2	-	4	1240	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	ZNF682_ENST00000358523.5_Missense_Mutation_p.K328N|ZNF682_ENST00000397162.1_Missense_Mutation_p.K328N|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.K366N|ZNF682_ENST00000595736.1_Missense_Mutation_p.K284N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	360					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(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATGAATTACCTTATGTTCAG	0.363																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1078-1080)aaG>aaC		zinc finger protein 682							51	55	53					19																	20117231		2112	4255	6367	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117231C>G	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"Zinc fingers, C2H2-type", "-"	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1080G>C	19.37:g.20117231C>G	ENSP00000380351:p.Lys360Asn					ZNF682_ENST00000397162.1_Missense_Mutation_p.K328N|ZNF682_ENST00000358523.5_Missense_Mutation_p.K328N|ZNF682_ENST00000597972.1_Missense_Mutation_p.K366N|ZNF682_ENST00000595736.1_Missense_Mutation_p.K284N|ZNF682_ENST00000596019.1_Intron	p.K360N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1240	-			360					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.1080G>C	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055901	0.36277	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	T;T;T	0.18657	2.2;2.2;2.2	1.09	-0.0727	0.13738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26882	0.0658	L	0.58669	1.825	0.23758	N	0.996921	P	0.40909	0.732	P	0.48952	0.596	T	0.21518	-1.0243	9	0.87932	D	0	.	4.8624	0.13590	0.0:0.7293:0.0:0.2707	.	360	O95780	ZN682_HUMAN	N	360;328;29;328	ENSP00000380351:K360N;ENSP00000380348:K328N;ENSP00000351324:K328N	ENSP00000340236:K29N	K	-	3	2	ZNF682	19978231	0.000000	0.05858	0.065000	0.19835	0.061000	0.15899	-0.304000	0.08199	0.488000	0.27723	0.491000	0.48974	AAG		0.363	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		5	37	0	0	0	1	0	5	37					G	20117231	C	G	20117231	3	3	309	1	0	0	0	0	1	0	0	0	18086	680	24	4	420	4	ZNF682	19	20117231	Missense_Mutation	SNP	C	TCGA-HT-8558-01A-21D-2395-08		20117231	39011752	3	31040											
SLC44A5	204962	broad.mit.edu	37	chr1	75685524	75685524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgcagattgagagcAaaatgaaagttaaagctgga	11	4	0	3			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	ENST00000370855.5	-	15	1252	c.1139T>C	c.(1138-1140)tTg>tCg	p.L380S	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	380					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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATTGAGAGCAAAATGAAAGT	0.368																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1138-1140)tTg>tCg		solute carrier family 44, member 5							112	104	107					1																	75685524		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75685524A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1139T>C	1.37:g.75685524A>G	ENSP00000359892:p.Leu380Ser					SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S	p.L380S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			15	1252	-			380					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1139T>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148623	0.78001	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26373	1.74;1.74;1.74	5.77	5.77	0.91146	.	0.268275	0.35646	N	0.003071	T	0.39253	0.1071	L	0.60957	1.885	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.998;0.991;0.999;0.999;0.995	D;D;D;D;D	0.81914	0.993;0.984;0.995;0.991;0.972	T	0.22487	-1.0215	10	0.56958	D	0.05	-0.5484	16.086	0.81049	1.0:0.0:0.0:0.0	.	374;419;380;380;419	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	S	380;419;380;250;373	ENSP00000359896:L380S;ENSP00000359892:L380S;ENSP00000443090:L250S	ENSP00000359892:L380S	L	-	2	0	SLC44A5	75458112	1.000000	0.71417	0.274000	0.24659	0.799000	0.45148	9.262000	0.95591	2.198000	0.70561	0.533000	0.62120	TTG		0.368	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		7	35	0	0	0	1	0	7	35					G	75685524	A	G	75685524	3	3	310	1	0	0	0	0	1	0	0	0	14639	131	5	3	1171	3	SLC44A5	1	75685524	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		75685524	173565097	1	31041											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77093225	77093225	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcattcacgtctacgggatgAtaaatgacacctactgcaag	9	10	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	ENST00000328299.3	+	4	860	c.712A>T	c.(712-714)Ata>Tta	p.I238L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	238					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACGGGATGATAAATGACAC	0.413																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(712-714)Ata>Tta		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							165	158	160					1																	77093225		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77093225A>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.712A>T	1.37:g.77093225A>T	ENSP00000329214:p.Ile238Leu						p.I238L	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			4	860	+			238					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.712A>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972924	0.74246	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	T	0.29397	1.57	5.42	5.42	0.78866	.	0.050423	0.85682	D	0.000000	T	0.27489	0.0675	M	0.73962	2.25	0.54753	D	0.99998	P	0.38745	0.645	B	0.43445	0.42	T	0.05099	-1.0906	10	0.25751	T	0.34	-10.4458	14.3437	0.66646	1.0:0.0:0.0:0.0	.	238	Q8NDV1	SIA7C_HUMAN	L	238;237	ENSP00000329214:I238L	ENSP00000329214:I238L	I	+	1	0	ST6GALNAC3	76865813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.099000	0.76981	2.193000	0.70182	0.528000	0.53228	ATA		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		36	148	0	0	0	1	0	36	148					T	77093225	A	T	77093225	3	4	310	1	0	0	0	0	1	0	0	0	15224	333	12	5	740	5	ST6GALNAC3	1	77093225	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	1407701	77093225	172157396	2	31042											
OLFML2B	25903	broad.mit.edu	37	chr1	161967933	161967933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccactgaggcatggttggCgatgctgggatctgaggtcg	16	9	1	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	ENST00000294794.3	-	6	1579	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	386					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1156-1158)Gcc>Acc		olfactomedin-like 2B							156	165	162					1																	161967933		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967933C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1156G>A	1.37:g.161967933C>T	ENSP00000294794:p.Ala386Thr					OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	p.A386T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1579	-	all_hematologic(112;0.156)		386					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1156G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222686	0.22457	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86297	-2.1;-2.1	4.39	-1.98	0.07480	.	.	.	.	.	T	0.39911	0.1096	N	0.08118	0	0.31043	N	0.716135	B;B	0.33494	0.019;0.414	B;B	0.20184	0.003;0.028	T	0.32877	-0.9890	8	0.15066	T	0.55	.	2.03	0.03527	0.113:0.1517:0.3609:0.3744	.	387;386	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	T	386;387	ENSP00000294794:A386T;ENSP00000356917:A387T	ENSP00000294794:A386T	A	-	1	0	OLFML2B	160234557	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.148000	0.10219	-0.558000	0.06118	0.462000	0.41574	GCC		0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		46	157	0	0	0	1	0	46	157					T	161967933	C	T	161967933	3	4	310	1	0	0	0	0	1	0	0	0	10858	768	27	1	1108	1	OLFML2B	1	161967933	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	84874708	161967933	87282688	3	31043											
MGAT5	4249	broad.mit.edu	37	chr2	135180442	135180442	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggactgttgacctcaaCaatcaggaggaagtagagga	14	6	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	ENST00000409645.1	+	14	1998	c.1746C>G	c.(1744-1746)aaC>aaG	p.N582K	MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	582					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1744-1746)aaC>aaG		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							138	139	139					2																	135180442		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135180442C>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1746C>G	2.37:g.135180442C>G	ENSP00000386377:p.Asn582Lys					MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K	p.N582K			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	14	1998	+			582					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1746C>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022006	0.35701	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.91	2.67	0.31697	.	0.557613	0.23444	N	0.048104	T	0.45538	0.1347	M	0.69358	2.11	0.09310	N	1	B	0.19200	0.034	B	0.18561	0.022	T	0.48317	-0.9046	9	0.66056	D	0.02	-1.8187	11.5078	0.50476	0.0:0.6783:0.0:0.3217	.	582	Q09328	MGT5A_HUMAN	K	582	.	ENSP00000281923:N582K	N	+	3	2	MGAT5	134896912	0.588000	0.26799	0.836000	0.33094	0.995000	0.86356	0.001000	0.13038	0.817000	0.34445	0.655000	0.94253	AAC		0.448	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		16	76	0	0	0	1	0	16	76					G	135180442	C	G	135180442	3	3	310	1	0	0	0	0	1	0	0	0	9548	477	17	4	1796	4	MGAT5	2	135180442	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		135180442	108018931	4	31044											
TTN	7273	broad.mit.edu	37	chr2	179413638	179413638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcacttcacagctgtcGccttttccagcaccattgat	6	15	2	1	rs140576051	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	ENST00000591111.1	-	289	88016	c.87792C>T	c.(87790-87792)ggC>ggT	p.G29264G	TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.G30905G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29264	Fibronectin type-III 113. {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)			CACAGCTGTCGCCTTTTCCAG	0.423													G|||	3	0.000599042	0.0	0.0	5008	,	,		23445	0.003		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(92713-92715)ggC>ggT		titin							124	119	121					2																	179413638		1983	4167	6150	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413638G>A	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.87792C>T	2.37:g.179413638G>A						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G29264G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G|TTN-AS1_ENST00000456053.1_RNA	p.G30905G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92939	-			29264			Fibronectin type-III 125.		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	ENST00000591111.1	37	c.92715C>T																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	77	0	0	0	1	0	21	77					A	179413638	G	A	179413638	2	1	310	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179413638	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	44233196	179413638	63785735	5	31045											
DNAJC10	54431	broad.mit.edu	37	chr2	183593668	183593668	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgatagaatgctttgcCgaatgaaaggagtcaacagc	12	6	1	4	rs534541117		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	ENST00000264065.7	+	7	995	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	194	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(580-582)Cga>Tga		DnaJ (Hsp40) homolog, subfamily C, member 10							164	158	160					2																	183593668		2203	4300	6503	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183593668C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.580C>T	2.37:g.183593668C>T	ENSP00000264065:p.Arg194*					DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	995	+			194			Thioredoxin 1.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.580C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	41	8.583509	0.98872	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	.	.	.	6.17	5.3	0.74995	.	0.137792	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2452	0.43336	0.1354:0.7974:0.0:0.0672	.	.	.	.	X	194	.	ENSP00000264065:R194X	R	+	1	2	DNAJC10	183301913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.364000	0.59479	1.633000	0.50488	0.655000	0.94253	CGA		0.378	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		17	94	0	0	0	1	0	17	94					T	183593668	C	T	183593668	4	4	310	1	0	0	0	0	0	1	0	0	4629	644	23	1	598	1	DNAJC10	2	183593668	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	4180030	183593668	59605705	6	31046											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	73	0	0	0	1	0	21	73					T	209113112	C	T	209113112	3	4	310	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	25519444	209113112	34086261	7	31047											
ZBTB20	26137	broad.mit.edu	37	chr3	114070216	114070216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgtccacgctgtgctGtgggtggctctgcaggtagc	15	11	1	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	ENST00000474710.1	-	4	887	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000462705.1_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	237						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(490-492)Cag>Tag		zinc finger and BTB domain containing 20							89	79	83					3																	114070216		2203	4300	6503	SO:0001587	stop_gained	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070216G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.709C>T	3.37:g.114070216G>A	ENSP00000419153:p.Gln237*					ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.Q237*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*	p.Q164*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1311	-			237			BTB.		Q63HP6|Q8N6R5|Q9Y410	Nonsense_Mutation	SNP	ENST00000474710.1	37	c.490C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	39	7.502679	0.98322	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	.	.	.	X	164;164;164;164;237;164;164	.	ENSP00000349803:Q164X	Q	-	1	0	ZBTB20	115552906	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.122000	0.94380	2.878000	0.98634	0.650000	0.86243	CAG		0.657	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		33	85	0	0	0	1	0	33	85					A	114070216	G	A	114070216	4	1	310	1	0	0	0	0	0	1	0	0	17526	1386	48	2	1524	2	ZBTB20	3	114070216	Nonsense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08		114070216	83952214	8	31048											
STK32B	55351	broad.mit.edu	37	chr4	5461892	5461892	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacatacagagcgtgccctaCttggccgacatgaactggga	12	11	0	2	rs372888179		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	ENST00000282908.5	+	9	1268	c.846C>G	c.(844-846)taC>taG	p.Y282*	STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGCCCTACTTGGCCGACA	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(844-846)taC>taG		serine/threonine kinase 32B							154	123	134					4																	5461892		2203	4300	6503	SO:0001587	stop_gained	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5461892C>G	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.846C>G	4.37:g.5461892C>G	ENSP00000282908:p.Tyr282*		OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	626	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*	p.Y282*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			9	1268	+			282			Protein kinase.			Nonsense_Mutation	SNP	ENST00000282908.5	37	c.846C>G	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	c	38	6.842467	0.97877	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	.	.	.	4.65	4.65	0.58169	.	0.000000	0.39146	U	0.001456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5001	0.84255	0.0:1.0:0.0:0.0	.	.	.	.	X	282;205;235	.	ENSP00000282908:Y282X	Y	+	3	2	STK32B	5512793	0.545000	0.26449	1.000000	0.80357	0.902000	0.53008	1.071000	0.30666	2.306000	0.77630	0.550000	0.68814	TAC		0.562	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		9	120	0	0	0	1	0	9	120					G	5461892	C	G	5461892	4	3	310	1	0	0	0	0	0	1	0	0	15297	576	20	4	880	4	STK32B	4	5461892	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		5461892	185692384	9	31049											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815630	23815630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggtagtttggagaattgTtcattactgaaatcactgtc	9	5	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	ENST00000264867.2	-	8	1595	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	492	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1474-1476)gaA>gaG		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							137	129	132					4																	23815630		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815630T>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1476A>G	4.37:g.23815630T>C						PPARGC1A_ENST00000509702.1_5'UTR	p.E492E	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1595	-		Breast(46;0.0503)	492					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1476A>G	CCDS3429.1																																																																																				0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		30	112	0	0	0	1	0	30	112					C	23815630	T	C	23815630	2	2	310	1	0	0	0	0	0	0	0	1	12300	1722	60	3		3	PPARGC1A	4	23815630	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	18353738	23815630	167338646	10	31050											
MPP7	143098	broad.mit.edu	37	chr10	28414006	28414006	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccccggtctgttcatccttCttaatggtagctccctttta	7	13	3	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	ENST00000375732.1	-	7	721	c.462G>A	c.(460-462)aaG>aaA	p.K154K	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000337532.5_Silent_p.K154K			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						GTTCATCCTTCTTAATGGTAG	0.403																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(460-462)aaG>aaA		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							161	136	144					10																	28414006		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28414006C>T	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.462G>A	10.37:g.28414006C>T						MPP7_ENST00000375732.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000481244.1_5'UTR	p.K154K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			8	738	-			154			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.462G>A	CCDS7158.1																																																																																				0.403	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		7	114	0	0	0	1	0	7	114					T	28414006	C	T	28414006	2	4	310	1	0	0	0	0	0	0	0	1	9739	912	32	2		2	MPP7	10	28414006	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		28414006	107120741	11	31051											
C10orf93	54777	broad.mit.edu	37	chr10	134752146	134752146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtctgactcagcacGtttatgatttgggaaaggct	10	9	3	2	rs181449154		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:134752146G>A	ENST00000368586.5	-	5	583	c.483C>T	c.(481-483)aaC>aaT	p.N161N	TTC40_ENST00000368582.2_Silent_p.N161N|TTC40_ENST00000368585.3_Silent_p.N161N	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GACTCAGCACGTTTATGATTT	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20744	0.0		0.0	False		,,,				2504	0.0					ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(481-483)aaC>aaT		tetratricopeptide repeat domain 40							177	147	157					10																	134752146		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134752146G>A																												ENST00000368586.5:c.483C>T	10.37:g.134752146G>A						TTC40_ENST00000368582.2_Silent_p.N161N|TTC40_ENST00000368585.3_Silent_p.N161N	p.N161N	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			5	583	-			0						Silent	SNP	ENST00000368586.5	37	c.483C>T	CCDS58101.1																																																																																				0.577	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			33	71	0	0	0	1	0	33	71					A	134752146	G	A	134752146	2	1	310	1	0	0	0	0	0	0	0	1	1625	1136	40	1		1	C10orf93	10	134752146	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	106338140	134752146	782601	12	31052											
OR5AN1	390195	broad.mit.edu	37	chr11	59132063	59132063	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acatctctggcctggaacctCtccctcattgttttaataag	6	12	3	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	ENST00000313940.2	+	1	179	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	44						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(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCTGGAACCTCTCCCTCATTG	0.428																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(130-132)ctC>ctT		olfactory receptor, family 5, subfamily AN, member 1							190	175	180					11																	59132063		2201	4295	6496	SO:0001819	synonymous_variant	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132063C>T	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.132C>T	11.37:g.59132063C>T							p.L44L	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	179	+			44					B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	c.132C>T	CCDS31559.1																																																																																				0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		49	182	0	0	0	1	0	49	182					T	59132063	C	T	59132063	2	4	310	1	0	0	0	0	0	0	0	1	11143	900	32	2		2	OR5AN1	11	59132063	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		59132063	75874453	13	31053											
MYO7A	4647	broad.mit.edu	37	chr11	76877199	76877199	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatcttccaggccgaTgtcgccatggtaagccgggt	13	11	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	ENST00000409709.3	+	15	2060	c.1788T>A	c.(1786-1788)gaT>gaA	p.D596E	MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E|MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	596	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCAGGCCGATGTCGCCATGG	0.587																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1786-1788)gaT>gaA		myosin VIIA							64	64	64					11																	76877199		1987	4145	6132	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76877199T>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1788T>A	11.37:g.76877199T>A	ENSP00000386331:p.Asp596Glu					MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E	p.D596E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			15	2060	+			596			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1788T>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500269	0.44455	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.53	-6.56	0.01848	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	N	0.13371	0.34	0.53688	D	0.999977	P;B;P	0.50710	0.938;0.077;0.867	P;B;P	0.53224	0.669;0.035;0.721	T	0.78974	-0.1992	10	0.13853	T	0.58	.	18.7627	0.91858	0.0:0.1854:0.0:0.8146	.	596;596;596	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	E	596;596;596;585;595;595;472;595	ENSP00000386331:D596E;ENSP00000386689:D596E;ENSP00000392185:D596E;ENSP00000386635:D585E	ENSP00000345075:D472E	D	+	3	2	MYO7A	76554847	0.000000	0.05858	0.056000	0.19401	0.900000	0.52787	-1.906000	0.01590	-1.693000	0.01427	-0.801000	0.03215	GAT		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		12	38	0	0	0	1	0	12	38					A	76877199	T	A	76877199	3	1	310	1	0	0	0	0	1	0	0	0	10082	1461	51	5	1842	5	MYO7A	11	76877199	Missense_Mutation	SNP	T	TCGA-HT-8563-01A-11D-2395-08	17745136	76877199	58129317	14	31054											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518292	85518292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatattgagcctagtgaAaaaatgtaagatatataaat	6	3	0	3			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	ENST00000393217.2	+	17	4063	c.4002A>G	c.(4000-4002)gaA>gaG	p.E1334E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										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)		AGCCTAGTGAAAAAATGTAAG	0.323																																						ENST00000393217.2																			0				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						c.(4000-4002)gaA>gaG		leucine-rich repeats and IQ motif containing 1							75	88	84					12																	85518292		2201	4291	6492	SO:0001819	synonymous_variant	84125							g.chr12:85518292A>G	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.4002A>G	12.37:g.85518292A>G							p.E1334E	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	4063	+			1334					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4002A>G	CCDS41816.1																																																																																				0.323	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		50	93	0	0	0	1	0	50	93					G	85518292	A	G	85518292	2	3	310	1	0	0	0	0	0	0	0	1	9029	11	1	3		3	LRRIQ1	12	85518292	Silent	SNP	A	TCGA-HT-8563-01A-11D-2395-08		85518292	48333603	15	31055											
KSR2	283455	broad.mit.edu	37	chr12	118199044	118199044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaccgcgtgccgctgcCggggcgatgggggcagggaa	21	11	0	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	ENST00000339824.5	-	4	1485	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	KSR2_ENST00000425217.1_Missense_Mutation_p.R224Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	253	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(670-672)cGg>cAg		kinase suppressor of ras 2							25	34	31					12																	118199044		1801	3971	5772	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199044C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.758G>A	12.37:g.118199044C>T	ENSP00000339952:p.Arg253Gln					KSR2_ENST00000339824.5_Missense_Mutation_p.R253Q	p.R224Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	725	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		253			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.671G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.375718	0.82682	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.57436	0.4;0.4	5.15	4.26	0.50523	.	0.293163	0.33161	N	0.005214	T	0.61924	0.2386	L	0.59436	1.845	0.35251	D	0.778709	D	0.64830	0.994	P	0.61201	0.885	T	0.65940	-0.6046	10	0.14252	T	0.57	.	13.2657	0.60133	0.0:0.9221:0.0:0.0779	.	253	Q6VAB6	KSR2_HUMAN	Q	224;253	ENSP00000389715:R224Q;ENSP00000339952:R253Q	ENSP00000339952:R253Q	R	-	2	0	KSR2	116683427	1.000000	0.71417	0.957000	0.39632	0.867000	0.49689	7.363000	0.79516	1.158000	0.42547	0.484000	0.47621	CGG		0.716	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		83	102	0	0	0	1	0	83	102					T	118199044	C	T	118199044	3	4	310	1	0	0	0	0	1	0	0	0	8582	652	23	1	2162	1	KSR2	12	118199044	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	32680752	118199044	15652851	16	31056											
ANAPC5	51433	broad.mit.edu	37	chr12	121790075	121790075	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccagtccttgatgccgaaCacattggcgtgcacaacccc	8	16	0	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	ENST00000261819.3	-	1	190	c.69G>C	c.(67-69)gtG>gtC	p.V23V	ANAPC5_ENST00000541887.1_Silent_p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	23					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)					TGATGCCGAACACATTGGCGT	0.632																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(67-69)gtG>gtC		anaphase promoting complex subunit 5							85	74	78					12																	121790075		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121790075C>G	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.69G>C	12.37:g.121790075C>G						ANAPC5_ENST00000541887.1_Silent_p.V23V	p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			1	190	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		23					E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	c.69G>C	CCDS9220.1																																																																																				0.632	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			17	84	0	0	0	1	0	17	84					G	121790075	C	G	121790075	2	3	310	1	0	0	0	0	0	0	0	1	605	465	17	4		4	ANAPC5	12	121790075	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	3591031	121790075	12061820	17	31057											
KDM2B	84678	broad.mit.edu	37	chr12	122012481	122012481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgtctcggactgtgAaatcagggtcaggcatcctg	13	9	3	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	ENST00000377071.4	-	4	440	c.368T>G	c.(367-369)tTc>tGc	p.F123C	KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C|KDM2B_ENST00000377069.4_Missense_Mutation_p.F92C|KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	123					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						TCGGACTGTGAAATCAGGGTC	0.567																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(274-276)tTc>tGc		lysine (K)-specific demethylase 2B							84	85	85					12																	122012481		1984	4165	6149	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122012481A>C	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.368T>G	12.37:g.122012481A>C	ENSP00000366271:p.Phe123Cys					KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C|KDM2B_ENST00000377071.4_Missense_Mutation_p.F123C|KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C	p.F92C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			4	681	-			123					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.275T>G	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386565	0.82902	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000539394;ENST00000539371	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.36	5.36	0.76844	.	0.196787	0.36134	N	0.002774	D	0.89220	0.6653	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.998	D	0.91814	0.5462	10	0.87932	D	0	-30.1957	15.5185	0.75846	1.0:0.0:0.0:0.0	.	123;6;123;92	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	C	123;92;123;6;123;123;86;6;92	ENSP00000366269:F92C;ENSP00000366271:F123C;ENSP00000445196:F6C;ENSP00000398279:F86C;ENSP00000440373:F6C	ENSP00000261824:F123C	F	-	2	0	KDM2B	120496864	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.262000	0.89862	2.246000	0.74042	0.533000	0.62120	TTC		0.567	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		31	81	0	0	0	1	0	31	81					C	122012481	A	C	122012481	3	2	310	1	0	0	0	0	1	0	0	0	8125	246	9	5	3774	5	KDM2B	12	122012481	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	222406	122012481	11839414	18	31058											
SOS2	6655	broad.mit.edu	37	chr14	50655245	50655245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagctttctatcagaaagAaaggcttctcgaaacacttt	6	9	3	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	ENST00000216373.5	-	5	958	c.684T>G	c.(682-684)ttT>ttG	p.F228L	SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	228	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					TATCAGAAAGAAAGGCTTCTC	0.338																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(682-684)ttT>ttG		son of sevenless homolog 2 (Drosophila)							73	72	73					14																	50655245		2201	4300	6501	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50655245A>C	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.684T>G	14.37:g.50655245A>C	ENSP00000216373:p.Phe228Leu					SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			5	958	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		228			DH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.684T>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260287	0.23051	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.56444	0.46;0.46	5.82	0.0139	0.14098	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.42245	1.32	0.48571	D	0.999673	B;B	0.22683	0.024;0.073	B;B	0.19148	0.023;0.024	T	0.22800	-1.0206	10	0.11794	T	0.64	.	13.5051	0.61479	0.3752:0.0:0.6248:0.0	.	228;228	B7ZKT6;Q07890	.;SOS2_HUMAN	L	228	ENSP00000216373:F228L;ENSP00000445328:F228L	ENSP00000216373:F228L	F	-	3	2	SOS2	49724995	0.997000	0.39634	0.989000	0.46669	0.985000	0.73830	0.465000	0.22004	-0.314000	0.08716	-0.256000	0.11100	TTT		0.338	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			11	56	0	0	0	1	0	11	56					C	50655245	A	C	50655245	3	2	310	1	0	0	0	0	1	0	0	0	14937	243	9	5	3390	5	SOS2	14	50655245	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		50655245	56694295	19	31059											
C14orf145	145508	broad.mit.edu	37	chr14	81209521	81209521	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttttcagtcaaattcctgaGttgttgtctgcagagcatca	9	8	4	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:81209521G>C	ENST00000555265.1	-	19	3079	c.2704C>G	c.(2704-2706)Ctc>Gtc	p.L902V	CEP128_ENST00000281129.3_Missense_Mutation_p.L902V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	902						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						AAATTCCTGAGTTGTTGTCTG	0.418																																						ENST00000555265.1																			0				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						c.(2704-2706)Ctc>Gtc		centrosomal protein 128kDa							103	90	95					14																	81209521		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81209521G>C	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.2704C>G	14.37:g.81209521G>C	ENSP00000451162:p.Leu902Val					CEP128_ENST00000281129.3_Missense_Mutation_p.L902V	p.L902V			Q6ZU80	CE128_HUMAN			19	3079	-			902					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2704C>G	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277001	0.23307	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.52526	0.66;0.66	5.34	4.45	0.53987	.	0.192365	0.34750	N	0.003710	T	0.58566	0.2131	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.56335	-0.7996	10	0.37606	T	0.19	.	10.5839	0.45271	0.073:0.1351:0.7919:0.0	.	902	Q6ZU80	CE128_HUMAN	V	902;902;902;103	ENSP00000281129:L902V;ENSP00000451162:L902V	ENSP00000281129:L902V	L	-	1	0	CEP128	80279274	0.994000	0.37717	0.098000	0.21074	0.024000	0.10985	1.928000	0.40104	1.403000	0.46800	-0.218000	0.12543	CTC		0.418	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		35	53	0	0	0	1	0	35	53					C	81209521	G	C	81209521	3	2	310	1	0	0	0	0	1	0	0	0	1749	1029	36	4	608	4	C14orf145	14	81209521	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	30554276	81209521	26140019	20	31060											
TSC2	7249	broad.mit.edu	37	chr16	2122981	2122981	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactacctggacaaaaccaaAcaggtaggaggtcagagcag	11	9	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	ENST00000219476.3	+	21	2982	c.2352A>C	c.(2350-2352)aaA>aaC	p.K784N	TSC2_ENST00000568454.1_Missense_Mutation_p.K795N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000401874.2_Missense_Mutation_p.K784N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	784					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)				ACAAAACCAAACAGGTAGGAG	0.547			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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						c.(2350-2352)aaA>aaC		tuberous sclerosis 2							47	45	46					16																	2122981		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2122981A>C	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.2352A>C	16.37:g.2122981A>C	ENSP00000219476:p.Lys784Asn					TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000568454.1_Missense_Mutation_p.K795N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N|TSC2_ENST00000401874.2_Missense_Mutation_p.K784N	p.K784N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			21	2982	+		Hepatocellular(780;0.0202)	784					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2352A>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830847	0.32329	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.61	-4.68	0.03309	Tuberin-type domain (1);	0.203143	0.51477	D	0.000087	D	0.84079	0.5393	L	0.47716	1.5	0.41402	D	0.987681	B;B;B;B;B;P	0.35493	0.101;0.083;0.083;0.161;0.083;0.505	B;B;B;B;B;B	0.43754	0.43;0.24;0.171;0.304;0.248;0.27	T	0.74833	-0.3530	10	0.27082	T	0.32	-9.6132	17.416	0.87500	0.3729:0.0:0.6271:0.0	.	735;747;784;784;784;784	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	N	784;784;784;747;735;784	ENSP00000219476:K784N;ENSP00000384468:K784N;ENSP00000248099:K784N;ENSP00000399232:K747N;ENSP00000371978:K735N;ENSP00000344383:K784N	ENSP00000219476:K784N	K	+	3	2	TSC2	2062982	0.990000	0.36364	0.015000	0.15790	0.684000	0.39900	0.486000	0.22340	-1.050000	0.03230	-0.376000	0.06991	AAA		0.547	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		12	45	0	0	0	1	0	12	45					C	2122981	A	C	2122981	3	2	310	1	0	0	0	0	1	0	0	0	16603	40	2	5	2430	5	TSC2	16	2122981	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		2122981	88231772	21	31061											
ACSM2A	123876	broad.mit.edu	37	chr16	20492162	20492162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaccggattggaccctcGgaggtagagaatgcactgat	14	8	0	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.S248S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1426-1428)tcG>tcA		acyl-CoA synthetase medium-chain family member 2A							105	94	98					16																	20492162		2203	4299	6502	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492162G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1428G>A	16.37:g.20492162G>A						ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000536134.1_Silent_p.S248S	p.S476S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			12	1542	+			476					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1428G>A	CCDS32401.1																																																																																				0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		23	95	0	0	0	1	0	23	95					A	20492162	G	A	20492162	2	1	310	1	0	0	0	0	0	0	0	1	183	1103	39	1		1	ACSM2A	16	20492162	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	18369181	20492162	69862591	22	31062											
POLR2C	5432	broad.mit.edu	37	chr16	57504925	57504925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtggctctctgcgtcCtgaaaccattgtcctgtcag	10	13	2	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57504925C>G	ENST00000219252.5	+	9	1060	c.722C>G	c.(721-723)cCt>cGt	p.P241R		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	241					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)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCTCTGCGTCCTGAAACCATT	0.512																																						ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(721-723)cCt>cGt		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							129	118	122					16																	57504925		2198	4300	6498	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57504925C>G		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.722C>G	16.37:g.57504925C>G	ENSP00000219252:p.Pro241Arg						p.P241R	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			9	1060	+			241					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.722C>G	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588817	0.86851	.	.	ENSG00000102978	ENST00000219252	D	0.89552	-2.53	5.59	5.59	0.84812	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	0.96855	0.8973	H	0.97829	4.085	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.98177	1.0455	10	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	241	P19387	RPB3_HUMAN	R	241	ENSP00000219252:P241R	ENSP00000219252:P241R	P	+	2	0	POLR2C	56062426	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	7.397000	0.79903	2.619000	0.88677	0.655000	0.94253	CCT		0.512	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		6	108	0	0	0	1	0	6	108					G	57504925	C	G	57504925	3	3	310	1	0	0	0	0	1	0	0	0	12216	681	24	4	756	4	POLR2C	16	57504925	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	37012763	57504925	32849828	23	31063											
CCDC135	84229	broad.mit.edu	37	chr16	57741426	57741426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgggtgcactcctggGtccttgtgctatcggggaag	16	11	0	0	rs114224823	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57741426G>A	ENST00000360716.3	+	8	1134	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I|CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I			Q8IY82	CC135_HUMAN		305					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCACTCCTGGGTCCTTGTGCT	0.592													g|||	17	0.00339457	0.0129	0.0	5008	,	,		20520	0.0		0.0	False		,,,				2504	0.0					ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(913-915)Gtc>Atc		coiled-coil domain containing 135		G	ILE/VAL	50,4346		1,48,2149	64	62	63		913	5	1	16	dbSNP_132	63	0,8600		0,0,4300	yes	missense	CCDC135	NM_032269.5	29	1,48,6449	AA,AG,GG		0.0,1.1374,0.3847	probably-damaging	305/875	57741426	50,12946	2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57741426G>A																												ENST00000360716.3:c.913G>A	16.37:g.57741426G>A	ENSP00000353942:p.Val305Ile					CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I|CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I	p.V305I			Q8IY82	CC135_HUMAN			8	1134	+			305					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.913G>A	CCDS10787.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	.	27.2	4.806534	0.90623	0.011374	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.75477	1.65;-0.94;1.65	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.72624	2.21	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.929	T	0.82289	-0.0531	10	0.36615	T	0.2	-38.9632	17.3448	0.87307	0.0:0.0:1.0:0.0	.	240;305	Q8IY82-2;Q8IY82	.;CC135_HUMAN	I	305;240;305	ENSP00000377869:V305I;ENSP00000338938:V240I;ENSP00000353942:V305I	ENSP00000338938:V240I	V	+	1	0	CCDC135	56298927	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.348000	0.97062	2.332000	0.79248	0.637000	0.83480	GTC		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			4	64	0	0	0	1	0	4	64					A	57741426	G	A	57741426	3	1	310	1	0	0	0	0	1	0	0	0	2769	1261	44	2	935	2	CCDC135	16	57741426	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	236501	57741426	32613327	24	31064											
FAM65A	79567	broad.mit.edu	37	chr16	67578714	67578714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcggtgggagatcccGgccagctctgcccaggaagg	17	12	1	1	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	ENST00000379312.3	+	16	2983	c.2862G>A	c.(2860-2862)ccG>ccA	p.P954P	FAM65A_ENST00000540839.3_Silent_p.P969P|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Silent_p.P964P|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000422602.2_Silent_p.P970P	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	954						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2905-2907)ccG>ccA		family with sequence similarity 65, member A		G	,,,	2,4394	4.2+/-10.8	0,2,2196	52	60	58		2862,2910,2892,2850	0.7	0.3	16	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	,,,	0,3,6495	AA,AG,GG		0.0116,0.0455,0.0231	,,,	954/1224,970/1240,964/1234,950/1220	67578714	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67578714G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2862G>A	16.37:g.67578714G>A						FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000428437.2_Silent_p.P964P|FAM65A_ENST00000422602.2_Silent_p.P970P|FAM65A_ENST00000379312.3_Silent_p.P954P	p.P969P			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3127	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	954					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2907G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	1.594	-0.528359	0.04112	4.55E-4	1.16E-4	ENSG00000039523	ENST00000428437	.	.	.	5.65	0.717	0.18196	.	.	.	.	.	T	0.40932	0.1137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25606	-1.0127	4	.	.	.	-4.7731	1.0958	0.01673	0.3021:0.0879:0.2457:0.3643	.	.	.	.	S	944	.	.	G	+	1	0	FAM65A	66136215	0.169000	0.23002	0.278000	0.24718	0.309000	0.27889	0.642000	0.24735	0.413000	0.25759	-0.262000	0.10625	GGC		0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		31	99	0	0	0	1	0	31	99					A	67578714	G	A	67578714	2	1	310	1	0	0	0	0	0	0	0	1	5599	1103	39	1		1	FAM65A	16	67578714	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	9837288	67578714	22776039	25	31065											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	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	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	66	0	0	0	1	0	12	66					T	7577538	C	T	7577538	3	4	310	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		7577538	73617672	26	31066											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	19	12	1	0	rs137852790|rs137852791|rs587782705		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	ENST00000269305.4	-	5	644	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000420246.2_Missense_Mutation_p.P152Q	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGTGCCGGGCGGGGGTGTGGA	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(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	GRCh37	CM941327	TP53	M		c.(454-456)cCg>cAg	Other conserved DNA damage response genes	tumor protein p53							51	52	52					17																	7578475		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475G>T	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.455C>A	17.37:g.7578475G>T	ENSP00000269305:p.Pro152Gln	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)				TP53_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q|TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000269305.4_Missense_Mutation_p.P152Q	p.P152Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.455C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644906	0.67358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51	5.59	5.59	0.84812	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	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.995;0.995;0.999;0.998;0.994	D	0.96428	0.9317	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152Q;ENSP00000352610:P152Q;ENSP00000269305:P152Q;ENSP00000398846:P152Q;ENSP00000391127:P152Q;ENSP00000391478:P152Q;ENSP00000425104:P20Q;ENSP00000423862:P59Q;ENSP00000424104:P152Q	ENSP00000269305:P152Q	P	-	2	0	TP53	7519200	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.901000	0.87382	2.804000	0.96469	0.655000	0.94253	CCG		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	59	1	0	2.94398e-08	1	3.04728e-08	19	59					T	7578475	G	T	7578475	3	4	310	1	0	0	0	0	1	0	0	0	16378	1116	39	4	843	4	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	937	7578475	73616735	27	31067											
TMEM104	54868	broad.mit.edu	37	chr17	72832811	72832811	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acggccaatatcatcctcagCgagaccaagctctgatggca	9	13	3	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	ENST00000335464.5	+	10	1638	c.1476C>G	c.(1474-1476)agC>agG	p.S492R	TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	492						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)					TCATCCTCAGCGAGACCAAGC	0.602																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1474-1476)agC>agG		transmembrane protein 104							44	41	42					17																	72832811		2202	4300	6502	SO:0001583	missense	54868					integral to membrane		g.chr17:72832811C>G	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.1476C>G	17.37:g.72832811C>G	ENSP00000334849:p.Ser492Arg					TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R|TMEM104_ENST00000417024.2_Intron	p.S492R	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1638	+	all_lung(278;0.23)		492					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1476C>G	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290222	0.40494	.	.	ENSG00000109066	ENST00000335464	T	0.31769	1.48	5.17	-1.94	0.07571	.	0.186671	0.56097	D	0.000032	T	0.21590	0.0520	L	0.53249	1.67	0.33191	D	0.550854	B	0.29988	0.264	B	0.27608	0.081	T	0.10042	-1.0647	10	0.36615	T	0.2	-12.9809	6.4218	0.21748	0.0:0.2467:0.2364:0.517	.	492	Q8NE00	TM104_HUMAN	R	492	ENSP00000334849:S492R	ENSP00000334849:S492R	S	+	3	2	TMEM104	70344406	0.000000	0.05858	0.997000	0.53966	0.906000	0.53458	-2.609000	0.00886	-0.200000	0.10300	0.462000	0.41574	AGC		0.602	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		14	41	0	0	0	1	0	14	41					G	72832811	C	G	72832811	3	3	310	1	0	0	0	0	1	0	0	0	16015	767	27	4	1510	4	TMEM104	17	72832811	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	65254336	72832811	8362399	28	31068											
DERL3	91319	broad.mit.edu	37	chr22	24179853	24179853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaggctcacccagcagGtccacgaggatggagttgcc	15	13	1	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	ENST00000318109.7	-	5	532	c.516C>T	c.(514-516)gaC>gaT	p.D172D	DERL3_ENST00000476077.1_Silent_p.D172D|DERL3_ENST00000404056.1_Intron|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Silent_p.D172D			Q96Q80	DERL3_HUMAN	derlin 3	172					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CACCCAGCAGGTCCACGAGGA	0.642																																						ENST00000406855.3																			0				ovary(1)|prostate(1)|skin(1)	3						c.(514-516)gaC>gaT		derlin 3							42	41	41					22																	24179853		2203	4300	6503	SO:0001819	synonymous_variant	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179853G>A	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.516C>T	22.37:g.24179853G>A						DERL3_ENST00000404056.1_Intron|DERL3_ENST00000318109.7_Silent_p.D172D|DERL3_ENST00000476077.1_Silent_p.D172D	p.D172D	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN			5	534	-			172					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	ENST00000318109.7	37	c.516C>T	CCDS33615.1																																																																																				0.642	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		8	30	0	0	0	1	0	8	30					A	24179853	G	A	24179853	2	1	310	1	0	0	0	0	0	0	0	1	4448	1252	44	2		2	DERL3	22	24179853	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08		24179853	27124713	29	31069											
ITIH5L	347365	broad.mit.edu	37	chrX	54784174	54784174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatgcagtggagtaacaCatttcacagtgtcagctttg	11	7	2	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:54784174C>T	ENST00000218436.6	-	8	2362	c.2333G>A	c.(2332-2334)tGt>tAt	p.C778Y		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	778	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGGAGTAACACATTTCACAGT	0.537																																						ENST00000218436.6																			0											c.(2332-2334)tGt>tAt		inter-alpha-trypsin inhibitor heavy chain family, member 6							121	106	111					X																	54784174		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784174C>T	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.2333G>A	X.37:g.54784174C>T	ENSP00000218436:p.Cys778Tyr						p.C778Y	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2362	-			778			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2333G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.269810	0.00021	.	.	ENSG00000102313	ENST00000218436	T	0.02103	4.45	3.07	-3.27	0.05048	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46190	-0.9209	9	0.42905	T	0.14	.	4.3273	0.11046	0.0:0.3045:0.3299:0.3656	.	778	Q6UXX5	ITH5L_HUMAN	Y	778	ENSP00000218436:C778Y	ENSP00000218436:C778Y	C	-	2	0	ITIH5L	54800899	0.006000	0.16342	0.009000	0.14445	0.109000	0.19521	-0.263000	0.08670	-0.532000	0.06332	-0.492000	0.04666	TGT		0.537	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		29	113	0	0	0	1	0	29	113					T	54784174	C	T	54784174	3	4	310	1	0	0	0	0	1	0	0	0	7908	478	17	2	1632	2	ITIH5L	23	54784174	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		54784174	100486386	30	31070											
ATRX	546	broad.mit.edu	37	chrX	76890195	76890195	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcccacataaactgaacacCtaaaaataacagcttcatta	2	11	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	ENST00000373344.5	-	17	4914		c.e17-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						AACTGAACACCTAAAAATAAC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e17-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						113	113	113					X																	76890195		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890195C>G	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.4700-1G>C	X.37:g.76890195C>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4914	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150088	0.78001	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.913	0.92493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76776851	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	.		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	35	128	0	0	0	1	0	35	128					G	76890195	C	G	76890195	5	3	310	1	0	0	0	0	0	0	1	0	1208	695	24	4	2855	4	ATRX	23	76890195	Splice_Site	SNP	C	TCGA-HT-8563-01A-11D-2395-08	22106021	76890195	78380365	31	31071											
GPRASP2	114928	broad.mit.edu	37	chrX	101970909	101970909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccagaaagatgttgAcagtgatagggtcaaacaag	13	7	1	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:101970909A>G	ENST00000535209.1	+	4	1943	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	GPRASP2_ENST00000543253.1_Missense_Mutation_p.D371G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	371						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						AAAGATGTTGACAGTGATAGG	0.483																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1111-1113)gAc>gGc		G protein-coupled receptor associated sorting protein 2							79	74	76					X																	101970909		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970909A>G	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.1112A>G	X.37:g.101970909A>G	ENSP00000437394:p.Asp371Gly					GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G|GPRASP2_ENST00000535209.1_Missense_Mutation_p.D371G	p.D371G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2031	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1112A>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	A	0.251	-1.006529	0.02112	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07216	3.21;3.21;3.21	4.23	4.23	0.50019	.	0.600729	0.14887	N	0.292610	T	0.02970	0.0088	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	10	0.28530	T	0.3	.	8.7521	0.34622	1.0:0.0:0.0:0.0	.	371	Q96D09	GASP2_HUMAN	G	371	ENSP00000437872:D371G;ENSP00000437394:D371G;ENSP00000339057:D371G	ENSP00000339057:D371G	D	+	2	0	GPRASP2	101857565	0.959000	0.32827	0.182000	0.23118	0.071000	0.16799	2.190000	0.42630	1.887000	0.54652	0.486000	0.48141	GAC		0.483	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		14	85	0	0	0	1	0	14	85					G	101970909	A	G	101970909	3	3	310	1	0	0	0	0	1	0	0	0	6723	275	10	3	1114	3	GPRASP2	23	101970909	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	25080714	101970909	53299651	32	31072											
RAB33A	9363	broad.mit.edu	37	chrX	129318702	129318702	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagctaacagtaaaacttcCtgtccttgttgaaaccaaac	6	10	0	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	ENST00000257017.4	+	2	1116	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	234					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTAAAACTTCCTGTCCTTGTT	0.438																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(700-702)tcC>tcG		RAB33A, member RAS oncogene family							41	38	39					X																	129318702		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318702C>G	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.702C>G	X.37:g.129318702C>G							p.S234S	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	1116	+			234					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.702C>G	CCDS14621.1																																																																																				0.438	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		5	55	0	0	0	1	0	5	55					G	129318702	C	G	129318702	2	3	310	1	0	0	0	0	0	0	0	1	12922	668	24	4		4	RAB33A	23	129318702	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	27347793	129318702	25951858	33	31073											
MAGEC1	9947	broad.mit.edu	37	chrX	140995062	140995062	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaattccagtcttcTctccagagccctgtgagcat	12	11	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	ENST00000285879.4	+	4	2158	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	624										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1870-1872)tcT>tcC		melanoma antigen family C, 1							175	187	183					X																	140995062		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995062T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1872T>C	X.37:g.140995062T>C		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S624S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2158	+	Acute lymphoblastic leukemia(192;6.56e-05)		624					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1872T>C	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		142	401	0	0	0	1	0	142	401					C	140995062	T	C	140995062	2	2	310	1	0	0	0	0	0	0	0	1	9180	1538	54	3		3	MAGEC1	23	140995062	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	11676360	140995062	14275498	34	31074											
MMEL1	79258	broad.mit.edu	37	chr1	2524272	2524272	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtggcagcgctcacGttctgttcgtctgccaggtc	14	12	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2524272G>A	ENST00000378412.3	-	20	2162	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	MMEL1_ENST00000288709.6_Splice_Site_p.N658N|MMEL1_ENST00000502556.1_Splice_Site_p.N510N			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	667						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGCTCACGTTCTGTTCGT	0.637																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.e20+1		membrane metallo-endopeptidase-like 1							109	83	92					1																	2524272		2203	4300	6503	SO:0001630	splice_region_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2524272G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2001+1C>T	1.37:g.2524272G>A						MMEL1_ENST00000502556.1_Splice_Site_p.N510_splice|MMEL1_ENST00000378412.3_Splice_Site_p.N667_splice	p.N658_splice	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	20	2214	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	667					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Splice_Site	SNP	ENST00000378412.3	37	c.1974_splice	CCDS30569.2																																																																																				0.637	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	Silent	4	96	0	0	0	1	0	4	96					A	2524272	G	A	2524272	5	1	311	1	0	0	0	0	0	0	1	0	9646	1159	40	1	358	1	MMEL1	1	2524272	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08		2524272	246726349	1	31075											
MMEL1	79258	broad.mit.edu	37	chr1	2541236	2541236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagtcgtcacacggttcCgtggtcgggtccatgttctg	13	10	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	ENST00000378412.3	-	5	488	c.327G>A	c.(325-327)acG>acA	p.T109T	MMEL1_ENST00000288709.6_Silent_p.T100T|MMEL1_ENST00000502556.1_Silent_p.T109T			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	109						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACGGTTCCGTGGTCGGGT	0.602																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(298-300)acG>acA		membrane metallo-endopeptidase-like 1							103	80	88					1																	2541236		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2541236C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.327G>A	1.37:g.2541236C>T						MMEL1_ENST00000502556.1_Silent_p.T109T|MMEL1_ENST00000378412.3_Silent_p.T109T	p.T100T	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	5	540	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	109					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.300G>A	CCDS30569.2																																																																																				0.602	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		49	86	0	0	0	1	0	49	86					T	2541236	C	T	2541236	2	4	311	1	0	0	0	0	0	0	0	1	9646	639	23	1		1	MMEL1	1	2541236	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16964	2541236	246709385	2	31076											
CHD5	26038	broad.mit.edu	37	chr1	6202326	6202326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccacatctcaaactcGcgttcccagttgatgatggt	10	13	1	2	rs566097871		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	ENST00000262450.3	-	15	2397	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	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)				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)		TCTCAAACTCGCGTTCCCAGT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17397	0.001		0.0	False		,,,				2504	0.0					ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2296-2298)cgC>cgT		chromodomain helicase DNA binding protein 5							88	87	87					1																	6202326		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202326G>A	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.2298C>T	1.37:g.6202326G>A						CHD5_ENST00000378021.1_5'UTR	p.R766R	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		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)	15	2397	-	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)	766			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2298C>T	CCDS57.1																																																																																				0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		69	106	0	0	0	1	0	69	106					A	6202326	G	A	6202326	2	1	311	1	0	0	0	0	0	0	0	1	3328	1074	38	1		1	CHD5	1	6202326	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3661090	6202326	243048295	3	31077											
ICMT	23463	broad.mit.edu	37	chr1	6285295	6285295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcagggcatagctgaCgccgcagatggggttacaca	13	11	1	2	rs201101726		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	ENST00000343813.5	-	5	728	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	ICMT_ENST00000495791.1_5'Flank	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	234					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|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;0.182)		GCATAGCTGACGCCGCAGATG	0.517																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(700-702)Gtc>Atc		isoprenylcysteine carboxyl methyltransferase							73	73	73					1																	6285295		2203	4300	6503	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6285295C>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"protein-S-isoprenylcysteine O-methyltransferase"	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.700G>A	1.37:g.6285295C>T	ENSP00000343552:p.Val234Ile						p.V234I	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|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;0.182)	5	728	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	234					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.700G>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183879	0.06340	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.83	3.0	0.34707	.	0.325920	0.33057	N	0.005322	T	0.26557	0.0649	N	0.12746	0.255	0.46317	D	0.99898	B	0.25272	0.122	B	0.20955	0.032	T	0.04178	-1.0971	9	0.12103	T	0.63	.	5.7603	0.18196	0.1349:0.6558:0.0:0.2093	.	234	O60725	ICMT_HUMAN	I	234;138	.	ENSP00000343552:V234I	V	-	1	0	ICMT	6207882	0.243000	0.23878	0.003000	0.11579	0.093000	0.18481	0.788000	0.26872	0.408000	0.25621	-0.793000	0.03317	GTC		0.517	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		44	84	0	0	0	1	0	44	84					T	6285295	C	T	6285295	3	4	311	1	0	0	0	0	1	0	0	0	7485	536	19	1	158	1	ICMT	1	6285295	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	82969	6285295	242965326	4	31078											
ZBTB48	3104	broad.mit.edu	37	chr1	6647351	6647354	+	Splice_Site	DEL	AGTA	AGTA	-													ggagcccccaagccccatgcAgtaagtgacagggagggctg					rs199796538		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	ENST00000377674.4	+	6	1382	c.1224delAGTA	c.(1222-1224)gca>gc	p.A408fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	408					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(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-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(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e6+1		zinc finger and BTB domain containing 48																																				SO:0001630	splice_region_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6647351_6647354delAGTA	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1224+1AGTA>-	1.37:g.6647351_6647354delAGTA							p.408_splice	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-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(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	6	1382	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	408					Q5SY19	Splice_Site	DEL	ENST00000377674.4	37	c.1224_splice	CCDS84.1																																																																																				0.564	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	Frame_Shift_Del	9	66						9	66	---	---	---	---	-	6647354	AGTA	-	6647351	8	5	311	1	0	1	0	1	0	0	1	0	17546	202	7	0	1242	0	ZBTB48	1	6647351	Splice_Site	DEL	AGTA	TCGA-HT-8564-01A-11D-2395-08	362056	6647351	242603270	5	31079											
PHF13	148479	broad.mit.edu	37	chr1	6680127	6680128	+	Frame_Shift_Ins	INS	-	-	G													gcctgggaaagaggggtacaINSgggggggcttgctgaagctg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	ENST00000377648.4	+	3	788_789	c.406_407insG	c.(406-408)aggfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					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)		AGAGGGGTACAGGGGGGGCTTG	0.604																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(406-408)gggfs		PHD finger protein 13																																				SO:0001589	frameshift_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680127_6680128insG	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.413dupG	1.37:g.6680134_6680134dupG	ENSP00000366876:p.Arg136fs					PHF13_ENST00000495385.1_Intron	p.G136fs	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		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)	3	788_789	+	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)	136					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Frame_Shift_Ins	INS	ENST00000377648.4	37	c.406_407insG	CCDS85.1																																																																																				0.604	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		17	153						17	153	---	---	---	---	G	6680128	-	G	6680127	7	5	311	1	0	1	1	0	0	0	0	0	11824	179	7	0	416	0	PHF13	1	6680127	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	32776	6680127	242570494	6	31080											
DNAJC11	55735	broad.mit.edu	37	chr1	6697342	6697342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcaccttcaccttctcGctcttcctgctcttgtcatt	3	16	7	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	ENST00000377577.5	-	14	1563	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_ENST00000542246.1_Silent_p.S442S|DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.S390S|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	480						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(1438-1440)agC>agT		DnaJ (Hsp40) homolog, subfamily C, member 11							278	213	235					1																	6697342		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6697342G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1440C>T	1.37:g.6697342G>A						DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.S390S|DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Silent_p.S442S	p.S480S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	14	1563	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	480					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1440C>T	CCDS87.1																																																																																				0.567	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		68	143	0	0	0	1	0	68	143					A	6697342	G	A	6697342	2	1	311	1	0	0	0	0	0	0	0	1	4630	1078	38	1		1	DNAJC11	1	6697342	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17215	6697342	242553279	7	31081											
RERE	473	broad.mit.edu	37	chr1	8674675	8674675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggctgtgatgccaccGgcagagagcatgctgggggg	20	8	0	2	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	ENST00000337907.3	-	5	1101	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	156	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(466-468)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	76	85	82		467,467	5.3	1	1	dbSNP_134	82	0,8600		0,0,4300	no	missense,missense	RERE	NM_001042681.1,NM_012102.3	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	156/1567,156/1567	8674675	1,13005	2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8674675G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.467C>T	1.37:g.8674675G>A	ENSP00000338629:p.Pro156Leu					RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	5	1101	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	156			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.467C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119773	0.56613	2.27E-4	0.0	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.42131	0.98;0.98	5.33	5.33	0.75918	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.60222	0.2252	L	0.57536	1.79	0.48975	D	0.999733	D	0.89917	1.0	D	0.81914	0.995	T	0.60727	-0.7206	9	0.66056	D	0.02	-21.5608	14.3867	0.66949	0.0:0.0:1.0:0.0	.	156	Q9P2R6	RERE_HUMAN	L	156	ENSP00000338629:P156L;ENSP00000383700:P156L	ENSP00000338629:P156L	P	-	2	0	RERE	8597262	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.819000	0.48049	2.768000	0.95171	0.655000	0.94253	CCG		0.488	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			44	168	0	0	0	1	0	44	168					A	8674675	G	A	8674675	3	1	311	1	0	0	0	0	1	0	0	0	13231	1116	39	1	4313	1	RERE	1	8674675	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1977333	8674675	240575946	8	31082											
DNAJC16	23341	broad.mit.edu	37	chr1	15874846	15874846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggaagagatgacaaggCggtacaacatcaatatctac	11	8	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	ENST00000375847.3	+	7	1110	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	316					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(946-948)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily C, member 16							141	131	135					1																	15874846		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15874846C>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.946C>T	1.37:g.15874846C>T	ENSP00000365007:p.Arg316Trp					DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W	p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	7	1110	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	316					Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.946C>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666531	0.29604	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.18960	2.18;2.18;2.18	6.07	6.07	0.98685	.	0.315101	0.36409	N	0.002611	T	0.14485	0.0350	N	0.19112	0.55	0.24318	N	0.995059	P;P	0.46578	0.88;0.88	B;B	0.32805	0.153;0.153	T	0.17592	-1.0364	10	0.87932	D	0	-18.1585	19.2231	0.93806	0.0:1.0:0.0:0.0	.	316;316	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	W	316	ENSP00000365007:R316W;ENSP00000364998:R316W;ENSP00000365009:R316W	ENSP00000364998:R316W	R	+	1	2	DNAJC16	15747433	0.990000	0.36364	0.441000	0.26858	0.016000	0.09150	2.778000	0.47726	2.885000	0.99019	0.655000	0.94253	CGG		0.428	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		34	43	0	0	0	1	0	34	43					T	15874846	C	T	15874846	3	4	311	1	0	0	0	0	1	0	0	0	4635	759	27	1	968	1	DNAJC16	1	15874846	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7200171	15874846	233375775	9	31083											
SPEN	23013	broad.mit.edu	37	chr1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatattacccgggaggtacGaggcagaaggccagagcgga	16	8	0	3	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	ENST00000375759.3	+	3	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	229	Arg-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)		CGGGAGGTACGAGGCAGAAGG	0.542																																						ENST00000375759.3																			0				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						c.(685-687)cGa>cAa		spen family transcriptional repressor		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78	77	77		686	5.8	1	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	SPEN	NM_015001.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	229/3665	16202978	1,13005	2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16202978G>A		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.686G>A	1.37:g.16202978G>A	ENSP00000364912:p.Arg229Gln					SPEN_ENST00000471538.1_3'UTR	p.R229Q	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		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)	3	890	+		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)	229			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.686G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286192	0.80803	2.27E-4	0.0	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.38240	2.92;1.15	5.78	5.78	0.91487	.	.	.	.	.	T	0.51210	0.1661	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.47636	-0.9102	9	0.51188	T	0.08	-12.1765	20.0118	0.97458	0.0:0.0:1.0:0.0	.	229	Q96T58	MINT_HUMAN	Q	229;188;188	ENSP00000364912:R229Q;ENSP00000388021:R188Q	ENSP00000364906:R188Q	R	+	2	0	SPEN	16075565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.744000	0.94065	0.563000	0.77884	CGA		0.542	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		45	95	0	0	0	1	0	45	95					A	16202978	G	A	16202978	3	1	311	1	0	0	0	0	1	0	0	0	15037	1058	37	1	696	1	SPEN	1	16202978	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	328132	16202978	233047643	10	31084											
UBR4	23352	broad.mit.edu	37	chr1	19501461	19501461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagtaccacagaatcaagtCggttcaaatcatcctctgag	7	11	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	ENST00000375254.3	-	21	2867	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375267.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	947					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)		AGAATCAAGTCGGTTCAAATC	0.438																																						ENST00000375267.2																			0				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						c.(2839-2841)cGa>cAa		ubiquitin protein ligase E3 component n-recognin 4							101	93	96					1																	19501461		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501461C>T	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.2840G>A	1.37:g.19501461C>T	ENSP00000364403:p.Arg947Gln					UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R947Q	p.R947Q			Q5T4S7	UBR4_HUMAN		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)	21	2843	-		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)	947					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2840G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	35	5.591915	0.96590	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.22421	0.69	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.04900	-1.0919	10	0.66056	D	0.02	.	20.0143	0.97474	0.0:1.0:0.0:0.0	.	947	Q5T4S7	UBR4_HUMAN	Q	947;947;947;947;163	ENSP00000364403:R947Q;ENSP00000364416:R947Q;ENSP00000364365:R947Q;ENSP00000364374:R947Q	ENSP00000364365:R947Q	R	-	2	0	UBR4	19374048	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.645000	0.67909	2.831000	0.97527	0.650000	0.86243	CGA		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		51	103	0	0	0	1	0	51	103					T	19501461	C	T	19501461	3	4	311	1	0	0	0	0	1	0	0	0	16901	884	31	1	13055	1	UBR4	1	19501461	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3298483	19501461	229749160	11	31085											
HSPG2	3339	broad.mit.edu	37	chr1	22166340	22166340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagcgcaaggtggcCgtgtgtccagcctccacagt	14	13	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	ENST00000374695.3	-	72	9763	c.9684G>A	c.(9682-9684)acG>acA	p.T3228T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3228	Ig-like C2-type 18.				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)	GCAAGGTGGCCGTGTGTCCAG	0.627																																						ENST00000374695.3																			0				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						c.(9682-9684)acG>acA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						61	60	60					1																	22166340		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22166340C>T	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.9684G>A	1.37:g.22166340C>T							p.T3228T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	72	9763	-		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)	3228			Ig-like C2-type 18.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9684G>A	CCDS30625.1																																																																																				0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		84	102	0	0	0	1	0	84	102					T	22166340	C	T	22166340	2	4	311	1	0	0	0	0	0	0	0	1	7430	639	23	1		1	HSPG2	1	22166340	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2664879	22166340	227084281	12	31086											
HSPG2	3339	broad.mit.edu	37	chr1	22168798	22168798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctcagggcctgggcCgctggctgcacgacacacat	12	14	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	ENST00000374695.3	-	68	9065	c.8986G>A	c.(8986-8988)Ggc>Agc	p.G2996S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2996	Ig-like C2-type 15.				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)	GGGCCTGGGCCGCTGGCTGCA	0.642																																						ENST00000374695.3																			0				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						c.(8986-8988)Ggc>Agc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						50	46	47					1																	22168798		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168798C>T	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.8986G>A	1.37:g.22168798C>T	ENSP00000363827:p.Gly2996Ser						p.G2996S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	68	9065	-		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)	2996			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8986G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	1.205	-0.631274	0.03584	.	.	ENSG00000142798	ENST00000374695	T	0.12039	2.72	4.95	-3.03	0.05429	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.510461	0.15496	N	0.259295	T	0.06917	0.0176	L	0.31578	0.945	0.09310	N	1	B;B	0.33345	0.115;0.409	B;B	0.29598	0.084;0.104	T	0.39981	-0.9587	10	0.07644	T	0.81	.	10.6881	0.45854	0.0:0.4804:0.0:0.5196	.	936;2996	Q59EG0;P98160	.;PGBM_HUMAN	S	2996	ENSP00000363827:G2996S	ENSP00000363827:G2996S	G	-	1	0	HSPG2	22041385	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.562000	0.05950	-1.117000	0.02965	-0.369000	0.07265	GGC		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		12	63	0	0	0	1	0	12	63					T	22168798	C	T	22168798	3	4	311	1	0	0	0	0	1	0	0	0	7430	652	23	1	4309	1	HSPG2	1	22168798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2458	22168798	227081823	13	31087											
KDM1A	23028	broad.mit.edu	37	chr1	23405541	23405541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacctttatttataaatgCgacgcagttctctgtaccct	5	11	1	0	rs549024936		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	ENST00000356634.3	+	15	2003	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000400181.4_Silent_p.C642C|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	618	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.0		0.0	False		,,,				2504	0.001					ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1924-1926)tgC>tgT		lysine (K)-specific demethylase 1A							125	126	126					1																	23405541		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23405541C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1854C>T	1.37:g.23405541C>T						RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000356634.3_Silent_p.C618C	p.C642C	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			17	2030	+			618			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.1926C>T	CCDS30627.1																																																																																				0.507	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		38	204	0	0	0	1	0	38	204					T	23405541	C	T	23405541	2	4	311	1	0	0	0	0	0	0	0	1	8122	776	27	1		1	KDM1A	1	23405541	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1236743	23405541	225845080	14	31088											
HTR1D	3352	broad.mit.edu	37	chr1	23519885	23519885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaagcttgattttcacGtggttgaaaaagagagggga	13	5	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	ENST00000374619.1	-	1	1337	c.828C>T	c.(826-828)caC>caT	p.H276H	HTR1D_ENST00000314113.3_Silent_p.H276H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	276					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATTTTCACGTGGTTGAAAA	0.567																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(826-828)caC>caT		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						73	78	76					1																	23519885		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519885G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.828C>T	1.37:g.23519885G>A						HTR1D_ENST00000314113.3_Silent_p.H276H	p.H276H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1337	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	276						Silent	SNP	ENST00000374619.1	37	c.828C>T	CCDS231.1																																																																																				0.567	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		83	103	0	0	0	1	0	83	103					A	23519885	G	A	23519885	2	1	311	1	0	0	0	0	0	0	0	1	7438	1136	40	1		1	HTR1D	1	23519885	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	114344	23519885	225730736	15	31089											
CLIC4	25932	broad.mit.edu	37	chr1	25167273	25167273	+	Frame_Shift_Del	DEL	A	A	-													ttgtatttcaggtggtggccAaaaaatatcgcaactttgat							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	ENST00000374379.4	+	6	804	c.607delA	c.(607-609)aaafs	p.K204fs		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	204	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(607-609)aafs		chloride intracellular channel 4							100	99	100					1																	25167273		2203	4300	6503	SO:0001589	frameshift_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25167273delA	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.607delA	1.37:g.25167273delA	ENSP00000363500:p.Lys204fs						p.K204fs	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	6	804	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	204			GST C-terminal.		Q9UFW9|Q9UQJ6	Frame_Shift_Del	DEL	ENST00000374379.4	37	c.607delA	CCDS256.1																																																																																				0.373	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		63	108						63	108	---	---	---	---	-	25167273	A	-	25167273	7	5	311	1	0	1	0	1	0	0	0	0	3528	131	5	0	629	0	CLIC4	1	25167273	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	1647388	25167273	224083348	16	31090											
EXTL1	2134	broad.mit.edu	37	chr1	26349416	26349416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacctcaaagtgcaggggCgatggccttaaggtattcgt	13	8	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	ENST00000374280.3	+	1	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	93					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(277-279)ggC>ggT		exostosin-like glycosyltransferase 1							102	103	103					1																	26349416		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349416C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.279C>T	1.37:g.26349416C>T							p.G93G	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1146	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	93					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.279C>T	CCDS271.1																																																																																				0.542	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		26	128	0	0	0	1	0	26	128					T	26349416	C	T	26349416	2	4	311	1	0	0	0	0	0	0	0	1	5325	755	27	1		1	EXTL1	1	26349416	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1182143	26349416	222901205	17	31091											
TRIM63	84676	broad.mit.edu	37	chr1	26387782	26387782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgttgattttctcatcttCgtgctccttgcacatggggt	10	9	2	1	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	ENST00000374272.3	-	3	514	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	126	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582																																						ENST00000374272.3																			0				kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(376-378)Gaa>Aaa		tripartite motif containing 63, E3 ubiquitin protein ligase		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	145	108	120		376	5.3	1	1	dbSNP_134	120	0,8600		0,0,4300	no	missense	TRIM63	NM_032588.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	126/354	26387782	1,13005	2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26387782C>T	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.376G>A	1.37:g.26387782C>T	ENSP00000363390:p.Glu126Lys					TRIM63_ENST00000483052.1_5'UTR	p.E126K	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	3	514	-		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)	126			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.376G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	36	5.786315	0.96937	2.27E-4	0.0	ENSG00000158022	ENST00000374272	T	0.42513	0.97	5.33	5.33	0.75918	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.044258	0.85682	D	0.000000	T	0.46288	0.1385	L	0.55481	1.735	0.80722	D	1	P	0.47302	0.893	B	0.43331	0.416	T	0.51419	-0.8708	10	0.72032	D	0.01	.	18.9836	0.92763	0.0:1.0:0.0:0.0	.	126	Q969Q1	TRI63_HUMAN	K	126	ENSP00000363390:E126K	ENSP00000363390:E126K	E	-	1	0	TRIM63	26260369	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.986000	0.70563	2.652000	0.90054	0.591000	0.81541	GAA		0.582	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		21	77	0	0	0	1	0	21	77					T	26387782	C	T	26387782	3	4	311	1	0	0	0	0	1	0	0	0	16535	893	31	1	713	1	TRIM63	1	26387782	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	38366	26387782	222862839	18	31092											
AIM1L	55057	broad.mit.edu	37	chr1	26650748	26650748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctccacatggtccggCactgccaggaatccccccag	9	17	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26650748C>T	ENST00000308182.5	-	17	1926	c.1497G>A	c.(1495-1497)gtG>gtA	p.V499V	AIM1L_ENST00000527815.1_Silent_p.V670V			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	499	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATGGTCCGGCACTGCCAGGA	0.617																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(2008-2010)gtG>gtA		absent in melanoma 1-like							60	54	56					1																	26650748		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26650748C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1497G>A	1.37:g.26650748C>T						AIM1L_ENST00000308182.5_Silent_p.V499V	p.V670V	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	17	2059	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	499					B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.2010G>A																																																																																					0.617	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		5	98	0	0	0	1	0	5	98					T	26650748	C	T	26650748	2	4	311	1	0	0	0	0	0	0	0	1	431	697	25	2		2	AIM1L	1	26650748	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	262966	26650748	222599873	19	31093											
ARID1A	8289	broad.mit.edu	37	chr1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-													ataggttatatgcagaggaaCccccagatgccccagtacag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	ENST00000324856.7	+	7	2639	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	756					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)		TGCAGAGGAACCCCCAGATGC	0.512			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(2266-2268)aafs		AT rich interactive domain 1A (SWI-like)							86	92	90					1																	27088659		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27088659delC	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.2268delC	1.37:g.27088659delC	ENSP00000320485:p.Asn756fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs	p.N756fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	7	2639	+		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)	756					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.2268delC	CCDS285.1																																																																																				0.512	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		13	225						13	225	---	---	---	---	-	27088659	C	-	27088659	7	5	311	1	0	1	0	1	0	0	0	0	913	506	18	0	2294	0	ARID1A	1	27088659	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	437911	27088659	222161962	20	31094											
PHC2	1912	broad.mit.edu	37	chr1	33837953	33837953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctggagcgccgcGgtctgcagcatgaggtgctg	17	11	1	1	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	ENST00000257118.5	-	2	323	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000431992.1_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	90	Gln-rich.				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)				GGAGCGCCGCGGTCTGCAGCA	0.667																																						ENST00000257118.5																			0				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						c.(268-270)acC>acT		polyhomeotic homolog 2 (Drosophila)		T		1,4405	2.1+/-5.4	0,1,2202	33	33	33		270	-10.4	0	1	dbSNP_134	33	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PHC2	NM_198040.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		90/859	33837953	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33837953G>A	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.270C>T	1.37:g.33837953G>A						PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T90T	p.T90T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			2	323	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	90			Gln-rich.		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.270C>T	CCDS378.1																																																																																				0.667	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		41	58	0	0	0	1	0	41	58					A	33837953	G	A	33837953	2	1	311	1	0	0	0	0	0	0	0	1	11817	1103	39	1		1	PHC2	1	33837953	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6749294	33837953	215412668	21	31095											
CSMD2	114784	broad.mit.edu	37	chr1	34180250	34180250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggcacgtgatgcgggCggtgccctccagacggtacc	14	16	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	ENST00000373381.4	-	21	3519	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1075	CUB 7. {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)				GTGATGCGGGCGGTGCCCTCC	0.632																																						ENST00000373381.4																			0				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						c.(3343-3345)Gcc>Acc		CUB and Sushi multiple domains 2							98	110	106					1																	34180250		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180250C>T	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	ENST00000373381.4:c.3343G>A	1.37:g.34180250C>T	ENSP00000362479:p.Ala1115Thr						p.A1115T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3519	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1075			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3343G>A		.	.	.	.	.	.	.	.	.	.	C	13.92	2.380018	0.42207	.	.	ENSG00000121904	ENST00000373381	T	0.65916	-0.18	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	L	0.41710	1.295	0.80722	D	1	B;B	0.33135	0.399;0.103	B;B	0.36030	0.216;0.09	T	0.46624	-0.9178	10	0.12430	T	0.62	.	14.0418	0.64681	0.1507:0.8493:0.0:0.0	.	1075;1115	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	1115	ENSP00000362479:A1115T	ENSP00000241312:A1075T	A	-	1	0	CSMD2	33952837	0.207000	0.23482	0.998000	0.56505	0.998000	0.95712	0.856000	0.27818	2.753000	0.94483	0.655000	0.94253	GCC		0.632	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		136	245	0	0	0	1	0	136	245					T	34180250	C	T	34180250	3	4	311	1	0	0	0	0	1	0	0	0	3945	768	27	1	7436	1	CSMD2	1	34180250	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342297	34180250	215070371	22	31096											
DLGAP3	58512	broad.mit.edu	37	chr1	35365314	35365314	+	Frame_Shift_Del	DEL	G	G	-													gtagccagggatggagctccGggggtggatccggggtggga							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	ENST00000373347.1	-	5	1610	c.1342delC	c.(1342-1344)cggfs	p.R448fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATGGAGCTCCGGGGGTGGATC	0.577																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1342-1344)ggfs		discs, large (Drosophila) homolog-associated protein 3							77	84	81					1																	35365314		2203	4300	6503	SO:0001589	frameshift_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365314delG	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1342delC	1.37:g.35365314delG	ENSP00000362444:p.Arg448fs					DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs	p.R448fs			O95886	DLGP3_HUMAN			5	1610	-		Myeloproliferative disorder(586;0.0393)	448					Q5TDD5|Q9H3X7	Frame_Shift_Del	DEL	ENST00000373347.1	37	c.1342delC	CCDS30670.1																																																																																				0.577	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		31	205						31	205	---	---	---	---	-	35365314	G	-	35365314	7	5	311	1	0	1	0	1	0	0	0	0	4561	1115	39	0	1629	0	DLGAP3	1	35365314	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1185064	35365314	213885307	23	31097											
ZNF691	51058	broad.mit.edu	37	chr1	43317024	43317024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccgcatccggcacgagcGgatccacctggaagagaaac	11	14	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	ENST00000372506.1	+	4	735	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q|ZNF691_ENST00000372504.1_Missense_Mutation_p.R154Q	NM_001242739.1	NP_001229668.1	Q5VV52	ZN691_HUMAN	zinc finger protein 691	163						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562																																						ENST00000372504.1																			0				large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7						c.(460-462)cGg>cAg		zinc finger protein 691							47	47	47					1																	43317024		2203	4300	6503	SO:0001583	missense	51058					nucleus	DNA binding|zinc ion binding	g.chr1:43317024G>A		CCDS476.1, CCDS55595.1	1p34.2	2013-01-08			ENSG00000164011	ENSG00000164011		"Zinc fingers, C2H2-type"	28028	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001242739		Approved	Zfp691	uc021omh.1	Q5VV52	OTTHUMG00000007623	ENST00000372506.1:c.395G>A	1.37:g.43317024G>A	ENSP00000361584:p.Arg132Gln					ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q|ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372506.1_Missense_Mutation_p.R132Q	p.R154Q			Q5VV52	ZN691_HUMAN			5	811	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	163					A8MXP6|B4DJR7|O95878|Q9NWE8	Missense_Mutation	SNP	ENST00000372506.1	37	c.461G>A	CCDS476.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.443761	0.63067	.	.	ENSG00000164011	ENST00000372508;ENST00000372507;ENST00000372506;ENST00000397044;ENST00000372504;ENST00000372503;ENST00000372502	T;T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09;4.09	5.31	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000087	T	0.10208	0.0250	M	0.62209	1.925	0.30760	N	0.744207	D;D	0.89917	0.997;1.0	P;D	0.63283	0.565;0.913	T	0.00123	-1.2026	10	0.87932	D	0	-23.7682	11.3456	0.49559	0.0878:0.0:0.9122:0.0	.	163;163	B4DJR7;Q5VV52	.;ZN691_HUMAN	Q	132;132;132;163;154;163;154	ENSP00000361586:R132Q;ENSP00000361585:R132Q;ENSP00000361584:R132Q;ENSP00000380237:R163Q;ENSP00000361582:R154Q;ENSP00000361580:R154Q	ENSP00000361580:R154Q	R	+	2	0	ZNF691	43089611	0.001000	0.12720	1.000000	0.80357	0.992000	0.81027	0.668000	0.25127	2.873000	0.98535	0.561000	0.74099	CGG		0.562	ZNF691-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020192.1	NM_015911		40	62	0	0	0	1	0	40	62					A	43317024	G	A	43317024	3	1	311	1	0	0	0	0	1	0	0	0	18093	1116	39	1	397	1	ZNF691	1	43317024	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7951710	43317024	205933597	24	31098											
TIE1	7075	broad.mit.edu	37	chr1	43779639	43779639	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctaccagtcaggctcGgtcagtgacccgccccgccc	9	19	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	ENST00000372476.3	+	14	2488	c.2409G>A	c.(2407-2409)tcG>tcA	p.S803S	TIE1_ENST00000433781.2_Splice_Site_p.S448S|TIE1_ENST00000473014.1_3'UTR	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	803					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)				AGTCAGGCTCGGTCAGTGACC	0.577																																						ENST00000372476.3																			0				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						c.e14+1		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							47	43	44					1																	43779639		2203	4300	6503	SO:0001630	splice_region_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779639G>A	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.2409+1G>A	1.37:g.43779639G>A						TIE1_ENST00000433781.2_Splice_Site_p.S448_splice|TIE1_ENST00000473014.1_3'UTR	p.S803_splice	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			14	2488	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	803					B5A949|B5A950	Splice_Site	SNP	ENST00000372476.3	37	c.2409_splice	CCDS482.1																																																																																				0.577	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	Silent	27	44	0	0	0	1	0	27	44					A	43779639	G	A	43779639	5	1	311	1	0	0	0	0	0	0	1	0	15890	1130	39	1	2463	1	TIE1	1	43779639	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	462615	43779639	205470982	25	31099											
PTPRF	5792	broad.mit.edu	37	chr1	44056971	44056971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggcacgcatgctgagCgccagcaccatgctggtgca	14	13	0	1	rs556161672		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	ENST00000359947.4	+	9	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Silent_p.S426S|PTPRF_ENST00000372414.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	426	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				GCATGCTGAGCGCCAGCACCA	0.726													c|||	1	0.000199681	0.0	0.0	5008	,	,		15073	0.0		0.001	False		,,,				2504	0.0					ENST00000359947.4																			0				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						c.(1276-1278)agC>agT		protein tyrosine phosphatase, receptor type, F							10	9	9					1																	44056971		2080	4071	6151	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056971C>T	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.1278C>T	1.37:g.44056971C>T						PTPRF_ENST00000372413.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S|PTPRF_ENST00000372414.3_Silent_p.S426S	p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			9	1618	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	426			Fibronectin type-III 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.1278C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.850|9.850	1.193433|1.193433	0.22037|0.22037	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568	.|.	.|.	.|.	5.48|5.48	-5.46|-5.46	0.02608|0.02608	.|.	.|.	.|.	.|.	.|.	T|T	0.66086|0.66086	0.2754|0.2754	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66563|0.66563	-0.5892|-0.5892	4|4	.|.	.|.	.|.	.|.	17.6837|17.6837	0.88251|0.88251	0.0:0.2087:0.0:0.7913|0.0:0.2087:0.0:0.7913	.|.	.|.	.|.	.|.	V|C	83|94	.|.	.|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43829558|43829558	0.000000|0.000000	0.05858|0.05858	0.607000|0.607000	0.28956|0.28956	0.904000|0.904000	0.53231|0.53231	-2.287000|-2.287000	0.01151|0.01151	-1.482000|-1.482000	0.01860|0.01860	-0.964000|-0.964000	0.02622|0.02622	GCG|CGC		0.726	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			6	6	0	0	0	1	0	6	6					T	44056971	C	T	44056971	2	4	311	1	0	0	0	0	0	0	0	1	12801	767	27	1		1	PTPRF	1	44056971	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	277332	44056971	205193650	26	31100											
RNF220	55182	broad.mit.edu	37	chr1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	AA	-													gcttcatcatgtgcagcggcAaagagaacccggacagtgat							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	ENST00000355387.2	+	9	1603_1604	c.1153_1154delAA	c.(1153-1155)aaafs	p.K385fs	RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	385					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						GTGCAGCGGCAAAGAGAACCCG	0.599																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(1153-1155)afs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45110396_45110397delAA	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.1153_1154delAA	1.37:g.45110396_45110397delAA	ENSP00000347548:p.Lys385fs					TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs|RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs	p.K385fs			Q5VTB9	RN220_HUMAN			9	1603_1604	+			385					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Del	DEL	ENST00000355387.2	37	c.1153_1154delAA	CCDS510.1																																																																																				0.599	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		49	115						49	115	---	---	---	---	-	45110397	AA	-	45110396	7	5	311	1	0	1	0	1	0	0	0	0	13483	131	5	0	1183	0	RNF220	1	45110396	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1053425	45110396	204140225	27	31101											
RAD54L	8438	broad.mit.edu	37	chr1	46739410	46739410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttgagaagctgtgccGtgcccgaaggtagggaagat	14	8	1	2	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	ENST00000371975.4	+	14	2275	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	534	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> C (in dbSNP:rs28363240). {ECO:0000269|Ref.2}.		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)		AAGCTGTGCCGTGCCCGAAGG	0.512								Direct reversal of damage;Homologous recombination					G|||	10	0.00199681	0.0076	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0					ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1600-1602)cGt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		G	HIS/ARG,HIS/ARG	29,4377	33.5+/-64.1	0,29,2174	47	50	49		1601,1601	4.9	1	1	dbSNP_134	49	0,8600		0,0,4300	yes	missense,missense	RAD54L	NM_001142548.1,NM_003579.3	29,29	0,29,6474	AA,AG,GG		0.0,0.6582,0.223	possibly-damaging,possibly-damaging	534/748,534/748	46739410	29,12977	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739410G>A	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.1601G>A	1.37:g.46739410G>A	ENSP00000361043:p.Arg534His					RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H|RAD54L_ENST00000488942.1_3'UTR	p.R534H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2275	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	534		R -> C (in dbSNP:rs28363240).	Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1601G>A	CCDS532.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.95	3.920978	0.73213	0.006582	0.0	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.76839	-1.05;-1.05	4.94	4.94	0.65067	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	L	0.59436	1.845	0.80722	D	1	B;B	0.17268	0.021;0.006	B;B	0.10450	0.005;0.004	T	0.72776	-0.4191	10	0.72032	D	0.01	-14.3979	18.4203	0.90588	0.0:0.0:1.0:0.0	.	354;534	G3V1N0;Q92698	.;RAD54_HUMAN	H	534;534;354	ENSP00000396113:R534H;ENSP00000361043:R534H	ENSP00000361043:R534H	R	+	2	0	RAD54L	46511997	1.000000	0.71417	0.979000	0.43373	0.875000	0.50365	9.364000	0.97136	2.596000	0.87737	0.558000	0.71614	CGT		0.512	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		7	13	0	0	0	1	0	7	13					A	46739410	G	A	46739410	3	1	311	1	0	0	0	0	1	0	0	0	12993	1145	40	1	1655	1	RAD54L	1	46739410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1629014	46739410	202511211	28	31102											
DMRTB1	63948	broad.mit.edu	37	chr1	53925205	53925205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgtcaagggacacGcgggcaaatgccgctggaag	16	11	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	ENST00000371445.3	+	1	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	27					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)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612																																						ENST00000371445.3																			0				large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						c.(79-81)Gcg>Acg		DMRT-like family B with proline-rich C-terminal, 1							34	31	32					1																	53925205		2203	4300	6503	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925205G>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.79G>A	1.37:g.53925205G>A	ENSP00000360500:p.Ala27Thr						p.A27T	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN			1	134	+			27					Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.79G>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209463	0.58343	.	.	ENSG00000143006	ENST00000371445	.	.	.	4.83	-1.04	0.10068	DM DNA-binding (6);	0.699451	0.12811	N	0.437184	T	0.10723	0.0262	N	0.10874	0.06	0.31125	N	0.708375	P	0.49635	0.926	B	0.33339	0.162	T	0.28902	-1.0029	9	0.36615	T	0.2	-11.1359	6.381	0.21533	0.1398:0.0:0.3408:0.5194	.	27	Q96MA1	DMRTB_HUMAN	T	27	.	ENSP00000360500:A27T	A	+	1	0	DMRTB1	53697793	0.924000	0.31332	0.707000	0.30419	0.964000	0.63967	1.642000	0.37207	-0.376000	0.07943	0.655000	0.94253	GCG		0.612	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			20	39	0	0	0	1	0	20	39					A	53925205	G	A	53925205	3	1	311	1	0	0	0	0	1	0	0	0	4590	1087	38	1	81	1	DMRTB1	1	53925205	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7185795	53925205	195325416	29	31103											
ACOT11	26027	broad.mit.edu	37	chr1	55050400	55050400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggaacgacagtgccatgGcagacggcgagggataccgg	18	10	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55050400G>A	ENST00000371316.3	+	2	188	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.A36T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	36	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.A36T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGTGCCATGGCAGACGGCGA	0.647																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			1	Substitution - Missense(1)	p.A36T(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(106-108)Gca>Aca		acyl-CoA thioesterase 11							106	87	93					1																	55050400		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55050400G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.106G>A	1.37:g.55050400G>A	ENSP00000360366:p.Ala36Thr					ACOT11_ENST00000343744.2_Missense_Mutation_p.A36T|ACOT11_ENST00000481208.1_3'UTR	p.A36T	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			2	188	+			36			Acyl coenzyme A hydrolase 1.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.106G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763838	0.31228	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.11385	2.84;2.78	4.87	3.96	0.45880	.	0.930221	0.09299	N	0.821258	T	0.10337	0.0253	L	0.36672	1.1	0.44603	D	0.997575	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.004	T	0.08310	-1.0728	10	0.28530	T	0.3	-19.3722	10.2886	0.43581	0.0768:0.1357:0.7874:0.0	.	36;36	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	T	36	ENSP00000340260:A36T;ENSP00000360366:A36T	ENSP00000340260:A36T	A	+	1	0	ACOT11	54822988	0.996000	0.38824	0.905000	0.35620	0.096000	0.18686	2.662000	0.46766	1.369000	0.46134	-0.137000	0.14449	GCA		0.647	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		5	130	0	0	0	1	0	5	130					A	55050400	G	A	55050400	3	1	311	1	0	0	0	0	1	0	0	0	149	1203	42	2	112	2	ACOT11	1	55050400	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1125195	55050400	194200221	30	31104											
DHCR24	1718	broad.mit.edu	37	chr1	55337128	55337128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgccgctgggactcGtgggtgaacttggcacagat	13	11	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	ENST00000371269.3	-	5	869	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_ENST00000535035.1_Silent_p.H216H|DHCR24_ENST00000537443.1_Silent_p.H89H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	257					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(769-771)caC>caT		24-dehydrocholesterol reductase							77	70	73					1																	55337128		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55337128G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.771C>T	1.37:g.55337128G>A						DHCR24_ENST00000537443.1_Silent_p.H89H|DHCR24_ENST00000535035.1_Silent_p.H216H	p.H257H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			5	869	-			257					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.771C>T	CCDS600.1																																																																																				0.592	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		8	98	0	0	0	1	0	8	98					A	55337128	G	A	55337128	2	1	311	1	0	0	0	0	0	0	0	1	4476	1136	40	1		1	DHCR24	1	55337128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	286728	55337128	193913493	31	31105											
FAM73A	374986	broad.mit.edu	37	chr1	78280851	78280851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgcaaagagcctatcGtctccaagaggagtttgaag	11	9	2	3	rs576373704		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	ENST00000370791.3	+	7	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	277						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)		AGAGCCTATCGTCTCCAAGAG	0.368																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(829-831)cGt>cAt		family with sequence similarity 73, member A							103	98	100					1																	78280851		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78280851G>A		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.830G>A	1.37:g.78280851G>A	ENSP00000359827:p.Arg277His					FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	p.R277H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	7	862	+			277					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.830G>A	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530553	0.27387	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23552	1.9;1.9	5.04	5.04	0.67666	.	0.172606	0.51477	D	0.000086	T	0.25717	0.0626	L	0.36672	1.1	0.58432	D	0.999998	D;D;D;D	0.69078	0.992;0.996;0.997;0.996	P;P;P;P	0.60886	0.809;0.88;0.804;0.88	T	0.01541	-1.1329	10	0.15952	T	0.53	-21.1548	18.7574	0.91837	0.0:0.0:1.0:0.0	.	239;277;277;277	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	H	277;239	ENSP00000359827:R277H;ENSP00000393675:R239H	ENSP00000359827:R277H	R	+	2	0	FAM73A	78053439	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	8.400000	0.90200	2.501000	0.84356	0.655000	0.94253	CGT		0.368	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		9	66	0	0	0	1	0	9	66					A	78280851	G	A	78280851	3	1	311	1	0	0	0	0	1	0	0	0	5617	1145	40	1	856	1	FAM73A	1	78280851	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	22943723	78280851	170969770	32	31106											
LPHN2	23266	broad.mit.edu	37	chr1	82372829	82372829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctaactatggtcggacGgatgacaagatttgtgatgc	13	7	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:82372829G>A	ENST00000370728.1	+	6	846	c.201G>A	c.(199-201)acG>acA	p.T67T	LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000394879.1_Silent_p.T67T			O95490	LPHN2_HUMAN	latrophilin 2	67	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				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)		ATGGTCGGACGGATGACAAGA	0.453																																						ENST00000370728.1																			0				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						c.(199-201)acG>acA		latrophilin 2							169	155	160					1																	82372829		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82372829G>A	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.201G>A	1.37:g.82372829G>A						LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000271029.4_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T	p.T67T			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	846	+			67			SUEL-type lectin.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.201G>A																																																																																					0.453	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		7	215	0	0	0	1	0	7	215					A	82372829	G	A	82372829	2	1	311	1	0	0	0	0	0	0	0	1	8916	1103	39	1		1	LPHN2	1	82372829	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4091978	82372829	166877792	33	31107											
LPAR3	23566	broad.mit.edu	37	chr1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtccagaagcccctgaCggagaaaccagcggttgaca	11	12	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(313-315)cGt>cAt		lysophosphatidic acid receptor 3							159	167	164					1																	85331490		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331490C>T	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.314G>A	1.37:g.85331490C>T	ENSP00000395389:p.Arg105His					LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR	p.R105H			Q9UBY5	LPAR3_HUMAN			1	352	-			105					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.314G>A	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634027	0.87660	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37058	1.22;1.22	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66842	-0.5821	10	0.72032	D	0.01	.	19.7225	0.96148	0.0:1.0:0.0:0.0	.	105	Q9UBY5	LPAR3_HUMAN	H	105	ENSP00000395389:R105H;ENSP00000359643:R105H	ENSP00000359643:R105H	R	-	2	0	LPAR3	85104078	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.792000	0.85828	2.674000	0.91012	0.655000	0.94253	CGT		0.502	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		155	211	0	0	0	1	0	155	211					T	85331490	C	T	85331490	3	4	311	1	0	0	0	0	1	0	0	0	8906	536	19	1	755	1	LPAR3	1	85331490	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2958661	85331490	163919131	34	31108											
ZNF644	84146	broad.mit.edu	37	chr1	91382483	91382483	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attagcgtttacaatatgtcGttgtaagtgcttaatccagt	8	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	ENST00000370440.1	-	6	4073	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*			Q9H582	ZN644_HUMAN	zinc finger protein 644	1286					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(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3856-3858)Cga>Tga		zinc finger protein 644							107	103	104					1																	91382483		2203	4300	6503	SO:0001587	stop_gained	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91382483G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3856C>T	1.37:g.91382483G>A	ENSP00000359469:p.Arg1286*					ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*|ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000467231.1_5'UTR	p.R1286*			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	6	4073	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1286					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	c.3856C>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414047	0.83449	.	.	ENSG00000122482	ENST00000370440;ENST00000347275;ENST00000337393;ENST00000361321	.	.	.	5.8	3.83	0.44106	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.179	10.7145	0.46005	0.0682:0.0:0.8005:0.1313	.	.	.	.	X	1286;64;1286;64	.	ENSP00000337008:R1286X	R	-	1	2	ZNF644	91155071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.704000	0.61831	1.458000	0.47871	0.655000	0.94253	CGA		0.423	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		27	50	0	0	0	1	0	27	50					A	91382483	G	A	91382483	4	1	311	1	0	0	0	0	0	1	0	0	18057	1153	40	1	131	1	ZNF644	1	91382483	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6050993	91382483	157868138	35	31109											
ABCA4	24	broad.mit.edu	37	chr1	94512531	94512531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcggtgatctggttctcGtagaaggtgatgttcagacg	14	6	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2860-2862)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 4							147	149	148					1																	94512531		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512531G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2862C>T	1.37:g.94512531G>A						ABCA4_ENST00000535735.1_Silent_p.Y880Y	p.Y954Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2948	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	954			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2862C>T	CCDS747.1																																																																																				0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		123	186	0	0	0	1	0	123	186					A	94512531	G	A	94512531	2	1	311	1	0	0	0	0	0	0	0	1	34	1140	40	1		1	ABCA4	1	94512531	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3130048	94512531	154738090	36	31110											
ABCA4	24	broad.mit.edu	37	chr1	94574157	94574157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctctccgggtgagtccGgagggtgtccatgaattggg	15	8	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94574157G>A	ENST00000370225.3	-	4	504	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	140					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGAGTCCGGAGGGTGTCC	0.493																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(418-420)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 4							111	104	106					1																	94574157		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94574157G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.418C>T	1.37:g.94574157G>A	ENSP00000359245:p.Arg140Trp					ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	4	504	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	140					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.418C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722147	0.68959	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91686	-2.77;-2.89	5.55	-4.67	0.03319	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.84511	2.7	0.39374	D	0.966143	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.94717	0.7897	10	0.72032	D	0.01	.	19.2089	0.93746	0.0:0.0:0.3445:0.6555	.	140;140	F5H6E5;P78363	.;ABCA4_HUMAN	W	140	ENSP00000359245:R140W;ENSP00000437682:R140W	ENSP00000359245:R140W	R	-	1	2	ABCA4	94346745	0.521000	0.26258	0.983000	0.44433	0.834000	0.47266	0.739000	0.26173	-0.503000	0.06586	0.557000	0.71058	CGG		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		6	150	0	0	0	1	0	6	150					A	94574157	G	A	94574157	3	1	311	1	0	0	0	0	1	0	0	0	34	1115	39	1	6591	1	ABCA4	1	94574157	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61626	94574157	154676464	37	31111											
ALG14	199857	broad.mit.edu	37	chr1	95492780	95492780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggactgctgaacctcccGgcttcttggaattcggtgaa	11	12	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	ENST00000370205.5	-	3	371	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	109					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)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(325-327)Cgg>Tgg		ALG14, UDP-N-acetylglucosaminyltransferase subunit							75	74	75					1																	95492780		2203	4300	6503	SO:0001583	missense	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95492780G>A		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"asparagine-linked glycosylation 14 homolog (yeast)", "asparagine-linked glycosylation 14 homolog (S. cerevisiae)"			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.325C>T	1.37:g.95492780G>A	ENSP00000359224:p.Arg109Trp						p.R109W	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	3	371	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	109					A8K030	Missense_Mutation	SNP	ENST00000370205.5	37	c.325C>T	CCDS752.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537061	0.85812	.	.	ENSG00000172339	ENST00000370205	T	0.79653	-1.29	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94137	0.7393	9	.	.	.	-17.128	16.8403	0.85967	0.0:0.0:1.0:0.0	.	109	Q96F25	ALG14_HUMAN	W	109	ENSP00000359224:R109W	.	R	-	1	2	ALG14	95265368	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.144000	0.71762	2.789000	0.95967	0.655000	0.94253	CGG		0.453	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		31	57	0	0	0	1	0	31	57					A	95492780	G	A	95492780	3	1	311	1	0	0	0	0	1	0	0	0	516	1115	39	1	333	1	ALG14	1	95492780	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	918623	95492780	153757841	38	31112											
CCDC76	54482	broad.mit.edu	37	chr1	100606421	100606421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcaggcttctattttagGtaacattgaaaatttaaagt	7	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100606421G>A	ENST00000370141.2	+	7	521	c.515G>A	c.(514-516)gGt>gAt	p.G172D		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	172					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCTATTTTAGGTAACATTGAA	0.338																																						ENST00000370141.2																			0											c.(514-516)gGt>gAt		tRNA methyltransferase 13 homolog (S. cerevisiae)							86	87	86					1																	100606421		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100606421G>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.515G>A	1.37:g.100606421G>A	ENSP00000359160:p.Gly172Asp						p.G172D	NM_019083.2	NP_061956.2					7	521	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.515G>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920632	0.92249	.	.	ENSG00000122435	ENST00000370141	T	0.50001	0.76	5.78	5.78	0.91487	Methyltransferase TRM13 (1);	0.090110	0.85682	D	0.000000	T	0.68044	0.2958	M	0.86268	2.805	0.80722	D	1	P;D	0.67145	0.816;0.996	P;D	0.64506	0.477;0.926	T	0.71553	-0.4558	10	0.62326	D	0.03	-20.1578	20.0136	0.97470	0.0:0.0:1.0:0.0	.	158;172	B4DQS9;Q9NUP7	.;TRM13_HUMAN	D	172	ENSP00000359160:G172D	ENSP00000359160:G172D	G	+	2	0	CCDC76	100379009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.820000	0.75267	2.735000	0.93741	0.563000	0.77884	GGT		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		17	46	0	0	0	1	0	17	46					A	100606421	G	A	100606421	3	1	311	1	0	0	0	0	1	0	0	0	2850	1261	44	2	541	2	CCDC76	1	100606421	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5113641	100606421	148644200	39	31113											
DBT	1629	broad.mit.edu	37	chr1	100684291	100684293	+	In_Frame_Del	DEL	TCT	TCT	-													ctgcaggagtttcaacaacaTcttcttctgaatctggtaac							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	ENST00000370132.4	-	5	457_459	c.444_446delAGA	c.(442-447)gaagat>gat	p.E148del	DBT_ENST00000370131.3_In_Frame_Del_p.E148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	148					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)		TTCAACAACATCTTCTTCTGAAT	0.384																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(442-447)gat>ga		dihydrolipoamide branched chain transacylase E2																																				SO:0001651	inframe_deletion	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100684291_100684293delTCT	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.444_446delAGA	1.37:g.100684297_100684299delTCT	ENSP00000359151:p.Glu148del					DBT_ENST00000370131.3_In_Frame_Del_p.ED148del	p.ED148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	457_459	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	148					B2R811|Q5VVL8	In_Frame_Del	DEL	ENST00000370132.4	37	c.444_446delAGA	CCDS767.1																																																																																				0.384	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		69	136						69	136	---	---	---	---	-	100684293	TCT	-	100684291	7	5	311	1	0	1	0	1	0	0	0	0	4258	1435	50	0	1030	0	DBT	1	100684291	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	77870	100684291	148566330	40	31114											
CELSR2	1952	broad.mit.edu	37	chr1	109801232	109801232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccacgccaccggaccaCgtggtggtcttcaacgtaca	11	15	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	ENST00000271332.3	+	2	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1163					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)		CACCGGACCACGTGGTGGTCT	0.716																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(3487-3489)caC>caT		cadherin, EGF LAG seven-pass G-type receptor 2							22	22	22					1																	109801232		2198	4294	6492	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801232C>T	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.3489C>T	1.37:g.109801232C>T							p.H1163H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3550	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1163					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3489C>T	CCDS796.1																																																																																				0.716	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		7	13	0	0	0	1	0	7	13					T	109801232	C	T	109801232	2	4	311	1	0	0	0	0	0	0	0	1	3222	535	19	1		1	CELSR2	1	109801232	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9116941	109801232	139449389	41	31115											
CHIA	27159	broad.mit.edu	37	chr1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtcatcaaattcctgcGccagtatgagtttgacgggc	10	11	3	2	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000353665.6_Intron|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000430615.1_Missense_Mutation_p.R20H	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	128					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)		AAATTCCTGCGCCAGTATGAG	0.547																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(382-384)cGc>cAc		chitinase, acidic		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	110	106	107		59,383	1.8	0.9	1	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHIA	NM_021797.2,NM_201653.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/369,128/477	111857960	1,13005	2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111857960G>A	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.383G>A	1.37:g.111857960G>A	ENSP00000358755:p.Arg128His					CHIA_ENST00000430615.1_Missense_Mutation_p.R20H|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000483391.1_Intron	p.R128H	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		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)	6	486	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	128					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.383G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039601	0.55003	0.0	1.16E-4	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320;ENST00000430615	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.72	1.77	0.24775	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.159070	0.41194	N	0.000933	T	0.05547	0.0146	M	0.79343	2.45	0.80722	D	1	P	0.38642	0.641	B	0.38296	0.27	T	0.10268	-1.0637	10	0.62326	D	0.03	-14.2335	8.9773	0.35944	0.2554:0.0:0.7446:0.0	.	128	Q9BZP6	CHIA_HUMAN	H	72;128;128;20	ENSP00000387671:R72H;ENSP00000358755:R128H;ENSP00000341828:R128H;ENSP00000391132:R20H	ENSP00000341828:R128H	R	+	2	0	CHIA	111659483	0.995000	0.38212	0.854000	0.33618	0.835000	0.47333	1.857000	0.39399	0.160000	0.19432	-0.123000	0.14984	CGC		0.547	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			86	165	0	0	0	1	0	86	165					A	111857960	G	A	111857960	3	1	311	1	0	0	0	0	1	0	0	0	3342	1087	38	1	401	1	CHIA	1	111857960	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2056728	111857960	137392661	42	31116											
FAM46C	54855	broad.mit.edu	37	chr1	118166435	118166435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccttcgcagggtggtgaaCgagagcaccgtgtgtctcat	13	10	1	2	rs374139482		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	ENST00000369448.3	+	2	1192	c.945C>T	c.(943-945)aaC>aaT	p.N315N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"Mis, F, O"	"family with sequence similarity 46, member C"			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(943-945)aaC>aaT		family with sequence similarity 46, member C		C		0,4406		0,0,2203	167	138	148		945	-6.7	0.8	1		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM46C	NM_017709.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		315/392	118166435	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54855							g.chr1:118166435C>T	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.945C>T	1.37:g.118166435C>T		Multiple Myeloma(3;1.13e-06)					p.N315N	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1192	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	315					A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	c.945C>T	CCDS896.1																																																																																				0.527	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		45	62	0	0	0	1	0	45	62					T	118166435	C	T	118166435	2	4	311	1	0	0	0	0	0	0	0	1	5567	535	19	1		1	FAM46C	1	118166435	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6308475	118166435	131084186	43	31117											
ITGA10	8515	broad.mit.edu	37	chr1	145534934	145534934	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccctcagctactttggcCgaagtgtggatggtcggcta	13	10	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	ENST00000369304.3	+	15	2012	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	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)			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)					CTACTTTGGCCGAAGTGTGGA	0.582																																						ENST00000369304.3																			0				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						c.(1837-1839)Cga>Tga		integrin, alpha 10							180	150	160					1																	145534934		2203	4300	6503	SO:0001587	stop_gained	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534934C>T	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.1837C>T	1.37:g.145534934C>T	ENSP00000358310:p.Arg613*					ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	p.R613*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			15	2012	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		613					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Nonsense_Mutation	SNP	ENST00000369304.3	37	c.1837C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	38	7.226739	0.98146	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	.	.	.	5.07	4.15	0.48705	.	0.085098	0.45361	D	0.000373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.081	0.59114	0.1615:0.8385:0.0:0.0	.	.	.	.	X	613;579;470;482	.	ENSP00000358310:R613X	R	+	1	2	ITGA10	144246291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.047000	0.41269	1.261000	0.44149	0.609000	0.83330	CGA		0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		39	194	0	0	0	1	0	39	194					T	145534934	C	T	145534934	4	4	311	1	0	0	0	0	0	1	0	0	7873	644	23	1	1895	1	ITGA10	1	145534934	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	27368499	145534934	103715687	44	31118											
ANXA9	8416	broad.mit.edu	37	chr1	150967084	150967084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaccaagtcctgattcGcatccttatctctcgatgtg	6	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	ENST00000368947.4	+	13	1360	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	295					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCTGATTCGCATCCTTATC	0.468																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(883-885)cGc>cAc		annexin A9							204	188	194					1																	150967084		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150967084G>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.884G>A	1.37:g.150967084G>A	ENSP00000357943:p.Arg295His						p.R295H	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1360	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		295					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.884G>A	CCDS975.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740016	0.89573	.	.	ENSG00000143412	ENST00000368947	T	0.09538	2.97	5.1	5.1	0.69264	.	0.139910	0.48767	D	0.000179	T	0.37945	0.1022	H	0.94698	3.57	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.55101	-0.8193	10	0.87932	D	0	.	16.0098	0.80391	0.0:0.0:1.0:0.0	.	295	O76027	ANXA9_HUMAN	H	295	ENSP00000357943:R295H	ENSP00000357943:R295H	R	+	2	0	ANXA9	149233708	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.645000	0.67909	2.371000	0.80710	0.655000	0.94253	CGC		0.468	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		117	201	0	0	0	1	0	117	201					A	150967084	G	A	150967084	3	1	311	1	0	0	0	0	1	0	0	0	725	1087	38	1	926	1	ANXA9	1	150967084	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5432150	150967084	98283537	45	31119											
SEMA6C	10500	broad.mit.edu	37	chr1	151105813	151105813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgcggagggagagagggCgcgggagccccggagtctcg	20	10	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	ENST00000341697.3	-	19	3631	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGAGAGGGCGCGGGAGCCC	0.726																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1939-1941)cGc>cAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							12	17	15					1																	151105813		2180	4265	6445	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105813C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1940G>A	1.37:g.151105813C>T	ENSP00000344148:p.Arg647His						p.R647H			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3631	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		647					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1940G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467314	0.63625	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	3.89	3.89	0.44902	.	1.906560	0.02651	N	0.106464	T	0.63815	0.2543	L	0.28400	0.85	0.33612	D	0.603726	D;P;D	0.89917	1.0;0.608;0.999	D;B;D	0.79784	0.993;0.119;0.984	T	0.58418	-0.7640	10	0.18276	T	0.48	.	13.4236	0.61011	0.0:1.0:0.0:0.0	.	639;679;647	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	H	647;639;679;647	ENSP00000357910:R647H;ENSP00000357908:R639H;ENSP00000357909:R679H;ENSP00000344148:R647H	ENSP00000344148:R647H	R	-	2	0	SEMA6C	149372437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.824000	0.48088	1.999000	0.58509	0.561000	0.74099	CGC		0.726	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		11	25	0	0	0	1	0	11	25					T	151105813	C	T	151105813	3	4	311	1	0	0	0	0	1	0	0	0	14041	768	27	1	856	1	SEMA6C	1	151105813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	138729	151105813	98144808	46	31120											
ZNF687	57592	broad.mit.edu	37	chr1	151261051	151261051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatcgctgcagcttcagCgcccaccagcgcatgcataa	8	17	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	ENST00000368879.2	+	3	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			GCAGCTTCAGCGCCCACCAGC	0.572																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2161-2163)agC>agT		zinc finger protein 687							100	86	91					1																	151261051		2203	4300	6503	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261051C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2163C>T	1.37:g.151261051C>T							p.S721S	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	2261	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		721					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.2163C>T		.	.	.	.	.	.	.	.	.	.	C	9.458	1.092408	0.20471	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.25	-3.15	0.05233	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	.	8.3588	0.32346	0.0:0.4954:0.1255:0.3791	.	.	.	.	V	324	.	.	A	+	2	0	ZNF687	149527675	0.000000	0.05858	0.964000	0.40570	0.991000	0.79684	-2.123000	0.01319	-0.789000	0.04498	-0.258000	0.10820	GCG		0.572	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		52	116	0	0	0	1	0	52	116					T	151261051	C	T	151261051	2	4	311	1	0	0	0	0	0	0	0	1	18089	767	27	1		1	ZNF687	1	151261051	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	155238	151261051	97989570	47	31121											
FLG	2312	broad.mit.edu	37	chr1	152282395	152282395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggaagtctctgcatgaCgagtgcctgattgtctggag	14	8	2	3	rs139975241	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	ENST00000368799.1	-	3	5002	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1656	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)			CTCTGCATGACGAGTGCCTGA	0.567									Ichthyosis																													ENST00000368799.1																			0				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						c.(4966-4968)cGt>cAt		filaggrin		T	HIS/ARG	0,4406		0,0,2203	286	286	286		4967	-4.3	0	1	dbSNP_134	286	3,8597	3.0+/-9.4	0,3,4297	no	missense	FLG	NM_002016.1	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	1656/4062	152282395	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282395C>T	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.4967G>A	1.37:g.152282395C>T	ENSP00000357789:p.Arg1656His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1656H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5002	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1656			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4967G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.760	0.141260	0.09083	0.0	3.49E-4	ENSG00000143631	ENST00000368799	T	0.00940	5.52	3.48	-4.28	0.03732	.	.	.	.	.	T	0.00241	0.0007	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.41790	T	0.15	.	11.979	0.53109	0.0:0.6958:0.0:0.3042	.	1656	P20930	FILA_HUMAN	H	1656	ENSP00000357789:R1656H	ENSP00000357789:R1656H	R	-	2	0	FLG	150549019	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.650000	0.00403	-1.326000	0.02266	-3.623000	0.00027	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		236	448	0	0	0	1	0	236	448					T	152282395	C	T	152282395	3	4	311	1	0	0	0	0	1	0	0	0	5922	536	19	1	7222	1	FLG	1	152282395	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1021344	152282395	96968226	48	31122											
LCE1A	353131	broad.mit.edu	37	chr1	152800020	152800020	+	Frame_Shift_Del	DEL	C	C	-													cccaagtgccctcccaagtgCcccactcctaagtgcccccc					rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	ENST00000335123.2	+	1	72	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	24	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccccactccta	0.652																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(70-72)tgfs		late cornified envelope 1A							56	62	60					1																	152800020		2203	4300	6503	SO:0001589	frameshift_variant	353131				keratinization			g.chr1:152800020delC		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"Late cornified envelopes"	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.72delC	1.37:g.152800020delC	ENSP00000334869:p.Cys24fs						p.C24fs	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	72	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		24			Cys-rich.			Frame_Shift_Del	DEL	ENST00000335123.2	37	c.72delC	CCDS1028.1																																																																																				0.652	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		41	154						41	154	---	---	---	---	-	152800020	C	-	152800020	7	5	311	1	0	1	0	1	0	0	0	0	8659	747	26	0	74	0	LCE1A	1	152800020	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	517625	152800020	96450601	49	31123											
PGLYRP3	114771	broad.mit.edu	37	chr1	153276410	153276410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggctgaatatacctgggcGacaggtgacccttctggatg	14	9	1	2	rs371637331		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	ENST00000290722.1	-	4	504	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	151					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(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552																																						ENST00000290722.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(451-453)tCg>tTg		peptidoglycan recognition protein 3		G	LEU/SER	0,4406		0,0,2203	92	91	91		452	4.3	1	1		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGLYRP3	NM_052891.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	151/342	153276410	1,13005	2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153276410G>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.452C>T	1.37:g.153276410G>A	ENSP00000290722:p.Ser151Leu						p.S151L	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	504	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		151					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.452C>T	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516409	0.64634	0.0	1.16E-4	ENSG00000159527	ENST00000290722	T	0.15139	2.45	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.43260	D	0.000593	T	0.33323	0.0859	M	0.87547	2.89	0.31148	N	0.705863	D	0.76494	0.999	D	0.68765	0.96	T	0.16719	-1.0393	10	0.54805	T	0.06	-28.5111	12.442	0.55629	0.0:0.0:1.0:0.0	.	151	Q96LB9	PGRP3_HUMAN	L	151	ENSP00000290722:S151L	ENSP00000290722:S151L	S	-	2	0	PGLYRP3	151543034	0.997000	0.39634	1.000000	0.80357	0.816000	0.46133	3.935000	0.56560	2.399000	0.81585	0.650000	0.86243	TCG		0.552	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		55	58	0	0	0	1	0	55	58					A	153276410	G	A	153276410	3	1	311	1	0	0	0	0	1	0	0	0	11795	1059	37	1	589	1	PGLYRP3	1	153276410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476390	153276410	95974211	50	31124											
HCN3	57657	broad.mit.edu	37	chr1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	CT	-													ccactctcagcctcccaaccCtctctgcctcagcgggcaac							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	ENST00000368358.3	+	8	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctctfs	p.S718fs	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.				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)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			CCTCCCAACCCTCTCTGCCTCA	0.698																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2149-2154)ccctfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 3																																				SO:0001589	frameshift_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155258080_155258081delCT	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2151_2152delCT	1.37:g.155258084_155258085delCT	ENSP00000357342:p.Ser718fs					HCN3_ENST00000496230.1_3'UTR	p.PS717fs	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	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)		8	2159_2160	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		717			Pro-rich.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Frame_Shift_Del	DEL	ENST00000368358.3	37	c.2151_2152delCT	CCDS1108.1																																																																																				0.698	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		13	50						13	50	---	---	---	---	-	155258081	CT	-	155258080	7	5	311	1	0	1	0	1	0	0	0	0	6998	668	24	0	2181	0	HCN3	1	155258080	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	1981670	155258080	93992541	51	31125											
C1orf66	51093	broad.mit.edu	37	chr1	156702140	156702140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgccctggcctttaccCggatgcctggctttcagacc	11	15	1	1	rs147288369		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:156702140C>T	ENST00000368216.4	+	3	934	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RRNAD1_ENST00000524343.1_Missense_Mutation_p.P60L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R102W|RRNAD1_ENST00000476229.1_5'UTR	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	102						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						GGCCTTTACCCGGATGCCTGG	0.592																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(304-306)Cgg>Tgg		ribosomal RNA adenine dimethylase domain containing 1		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	55	59	58		304,304	4.6	1	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRNAD1	NM_001142560.1,NM_015997.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	102/278,102/476	156702140	1,13005	2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702140C>T	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.304C>T	1.37:g.156702140C>T	ENSP00000357199:p.Arg102Trp					RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000524343.1_Missense_Mutation_p.P60L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R102W	p.R102W	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			3	934	+			102					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.304C>T	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.12|19.12	3.766602|3.766602	0.69878|0.69878	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143303|ENSG00000143303	ENST00000524343|ENST00000368218;ENST00000368216;ENST00000519086	.|T	.|0.53640	.|0.61	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.61763|0.61763	0.2373|0.2373	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.67130|0.67130	-0.5748|-0.5748	6|10	0.87932|0.87932	D|D	0|0	-25.0114|-25.0114	11.4326|11.4326	0.50050|0.50050	0.1805:0.8195:0.0:0.0|0.1805:0.8195:0.0:0.0	.|.	.|102;102	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	L|W	60|102	.|ENSP00000357199:R102W	ENSP00000429389:P60L|ENSP00000357199:R102W	P|R	+|+	2|1	0|2	RRNAD1|RRNAD1	154968764|154968764	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	2.477000|2.477000	0.45180|0.45180	2.397000|2.397000	0.81536|0.81536	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		45	89	0	0	0	1	0	45	89					T	156702140	C	T	156702140	3	4	311	1	0	0	0	0	1	0	0	0	2056	643	23	1	314	1	C1orf66	1	156702140	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1444060	156702140	92548481	52	31126											
SLAMF8	56833	broad.mit.edu	37	chr1	159802792	159802792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaataacctatagctggcGacgggagacaaccatggact	11	10	0	1	rs267598116		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	ENST00000289707.5	+	3	643	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q|SLAMF8_ENST00000471286.1_3'UTR|C1orf204_ENST00000491974.1_5'Flank	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542																																						ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(493-495)cGa>cAa		SLAM family member 8		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110	105	107		494	2.2	1	1		107	0,8600		0,0,4300	no	missense	SLAMF8	NM_020125.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	165/286	159802792	1,13005	2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159802792G>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.494G>A	1.37:g.159802792G>A	ENSP00000289707:p.Arg165Gln					SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q|SLAMF8_ENST00000471286.1_3'UTR	p.R165Q	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			3	643	+	all_hematologic(112;0.0597)		165			Ig-like C2-type.		Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.494G>A	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103279	0.20632	2.27E-4	0.0	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.37915	4.1;1.17	4.6	2.25	0.28309	Immunoglobulin-like (1);	0.908506	0.09387	N	0.809089	T	0.08980	0.0222	L	0.36672	1.1	0.29000	N	0.887554	B	0.24882	0.113	B	0.17722	0.019	T	0.34428	-0.9829	10	0.13853	T	0.58	-2.4824	6.3651	0.21451	0.2314:0.0:0.7686:0.0	.	165	Q9P0V8	SLAF8_HUMAN	Q	165;56	ENSP00000289707:R165Q;ENSP00000357084:R56Q	ENSP00000289707:R165Q	R	+	2	0	SLAMF8	158069416	0.139000	0.22563	0.980000	0.43619	0.419000	0.31324	0.151000	0.16283	0.553000	0.29044	0.650000	0.86243	CGA		0.542	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		26	143	0	0	0	1	0	26	143					A	159802792	G	A	159802792	3	1	311	1	0	0	0	0	1	0	0	0	14370	1058	37	1	504	1	SLAMF8	1	159802792	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3100652	159802792	89447829	53	31127											
C1orf114	57821	broad.mit.edu	37	chr1	169364358	169364358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgtaactgtttagaaCgcttagcttctagtcggagc	12	8	1	1	rs557950843		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:169364358C>T	ENST00000367806.3	-	6	1609	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	CCDC181_ENST00000367805.3_Missense_Mutation_p.R485H|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000545005.1_Missense_Mutation_p.R485H	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	486						nucleus (GO:0005634)											CTGTTTAGAACGCTTAGCTTC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		17652	0.001		0.0	False		,,,				2504	0.0					ENST00000545005.1																			0											c.(1453-1455)cGt>cAt		coiled-coil domain containing 181							153	141	145					1																	169364358		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169364358C>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1457G>A	1.37:g.169364358C>T	ENSP00000356780:p.Arg486His					CCDC181_ENST00000367806.3_Missense_Mutation_p.R486H|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000367805.3_Missense_Mutation_p.R485H	p.R485H							7	1961	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1454G>A		.	.	.	.	.	.	.	.	.	.	C	13.66	2.303446	0.40795	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.31510	1.49;1.49;1.49	6.07	1.14	0.20703	.	0.157965	0.53938	N	0.000046	T	0.10078	0.0247	L	0.43152	1.355	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.26202	0.067;0.067	T	0.16364	-1.0405	10	0.46703	T	0.11	0.4533	10.8989	0.47040	0.0:0.7022:0.0:0.2978	.	486;485	Q5TID7;Q5TID7-3	CA114_HUMAN;.	H	485;486;485	ENSP00000356779:R485H;ENSP00000356780:R486H;ENSP00000442297:R485H	ENSP00000356779:R485H	R	-	2	0	C1orf114	167630982	0.993000	0.37304	0.008000	0.14137	0.965000	0.64279	0.308000	0.19314	-0.025000	0.13918	-0.122000	0.15005	CGT		0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		39	58	0	0	0	1	0	39	58					T	169364358	C	T	169364358	3	4	311	1	0	0	0	0	1	0	0	0	1987	536	19	1	76	1	C1orf114	1	169364358	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9561566	169364358	79886263	54	31128											
SLC9A11	284525	broad.mit.edu	37	chr1	173551052	173551052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcatattgctaaaaaCgtcagccaatatacactgaa	6	9	2	1	rs4916373	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173551052C>T	ENST00000367714.3	-	7	1158	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.V144I|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	246					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTGCTAAAAACGTCAGCCAAT	0.323																																						ENST00000367714.3																			0											c.(736-738)Gtt>Att		solute carrier family 9, member C2 (putative)							113	101	105					1																	173551052		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173551052C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.736G>A	1.37:g.173551052C>T	ENSP00000356687:p.Val246Ile					SLC9C2_ENST00000536496.1_Missense_Mutation_p.V144I|RP3-436N22.3_ENST00000431459.1_RNA	p.V246I	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			7	1158	-			246					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.736G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.524566	0.00959	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.12361	2.69;2.69	6.11	2.96	0.34315	Cation/H+ exchanger (1);	0.645648	0.14450	N	0.318867	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.48055	-0.9068	10	0.02654	T	1	-5.8249	7.9194	0.29837	0.0:0.141:0.4782:0.3809	rs4916373;rs4916373	246	Q5TAH2	S9A11_HUMAN	I	246;144	ENSP00000356687:V246I;ENSP00000445437:V144I	ENSP00000356687:V246I	V	-	1	0	SLC9A11	171817675	0.998000	0.40836	0.056000	0.19401	0.010000	0.07245	0.587000	0.23909	0.897000	0.36392	-0.147000	0.13772	GTT		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		26	30	0	0	0	1	0	26	30					T	173551052	C	T	173551052	3	4	311	1	0	0	0	0	1	0	0	0	14711	536	19	1	2726	1	SLC9A11	1	173551052	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4186694	173551052	75699569	55	31129											
DARS2	55157	broad.mit.edu	37	chr1	173826739	173826739	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaagtccttccggggacatGacctcatgagcaatacccca	8	14	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	ENST00000361951.4	+	17	2561	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Missense_Mutation_p.D157N	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	612					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)	CCGGGGACATGACCTCATGAG	0.483																																						ENST00000361951.4																			0				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						c.(1834-1836)Gac>Aac		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						142	126	132					1																	173826739		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173826739G>A	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.1834G>A	1.37:g.173826739G>A	ENSP00000355086:p.Asp612Asn					DARS2_ENST00000239457.5_Missense_Mutation_p.D157N|DARS2_ENST00000471476.1_3'UTR	p.D612N	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			17	2561	+			612						Missense_Mutation	SNP	ENST00000361951.4	37	c.1834G>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144990	0.94603	.	.	ENSG00000117593	ENST00000361951;ENST00000239457	D;D	0.92699	-2.14;-3.09	5.65	4.72	0.59763	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94984	0.8128	10	0.19590	T	0.45	-21.8107	14.7061	0.69191	0.0:0.0:0.8536:0.1464	.	612	Q6PI48	SYDM_HUMAN	N	612;157	ENSP00000355086:D612N;ENSP00000239457:D157N	ENSP00000239457:D157N	D	+	1	0	DARS2	172093362	1.000000	0.71417	0.964000	0.40570	0.870000	0.49936	9.869000	0.99810	1.344000	0.45657	0.555000	0.69702	GAC		0.483	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		31	122	0	0	0	1	0	31	122					A	173826739	G	A	173826739	3	1	311	1	0	0	0	0	1	0	0	0	4242	1290	45	2	1900	2	DARS2	1	173826739	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	275687	173826739	75423882	56	31130											
TNN	63923	broad.mit.edu	37	chr1	175097740	175097740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcccagttggtgcccGtttcccacacccttcggact	9	16	0	0	rs377367173		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	ENST00000239462.4	+	15	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1063	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3187-3189)cGt>cAt		tenascin N		G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	86	83	84		3188	3.2	0.9	1		84	1,8599		0,1,4299	no	missense	TNN	NM_022093.1	29	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	possibly-damaging	1063/1300	175097740	5,13001	2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097740G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3188G>A	1.37:g.175097740G>A	ENSP00000239462:p.Arg1063His						p.R1063H	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3301	+		Breast(1374;0.000962)	1063			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3188G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051208	0.55218	9.08E-4	1.16E-4	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.81163	-1.46	5.11	3.22	0.36961	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.377447	0.25839	N	0.027978	T	0.72985	0.3529	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.50970	0.655	T	0.63193	-0.6692	10	0.40728	T	0.16	.	4.1303	0.10146	0.1904:0.0:0.6243:0.1853	.	1063	Q9UQP3	TENN_HUMAN	H	1063;886	ENSP00000239462:R1063H	ENSP00000239462:R1063H	R	+	2	0	TNN	173364363	0.127000	0.22367	0.929000	0.37066	0.918000	0.54935	1.911000	0.39937	1.157000	0.42530	0.462000	0.41574	CGT		0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		37	141	0	0	0	1	0	37	141					A	175097740	G	A	175097740	3	1	311	1	0	0	0	0	1	0	0	0	16320	1145	40	1	3242	1	TNN	1	175097740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1271001	175097740	74152881	57	31131											
SOAT1	6646	broad.mit.edu	37	chr1	179310292	179310292	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcaacattgggccactggCtatagcaagagttctcatcc	8	11	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	ENST00000367619.3	+	7	770	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_ENST00000539888.1_Silent_p.G144G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.G151G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	209					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(625-627)ggC>ggG		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						232	213	220					1																	179310292		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310292C>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.627C>G	1.37:g.179310292C>G						SOAT1_ENST00000540564.1_Silent_p.G151G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.G144G	p.G209G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			7	770	+			209					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.627C>G	CCDS1330.1																																																																																				0.428	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		98	183	0	0	0	1	0	98	183					G	179310292	C	G	179310292	2	3	311	1	0	0	0	0	0	0	0	1	14910	784	28	4		4	SOAT1	1	179310292	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4212552	179310292	69940329	58	31132											
PTGS2	5743	broad.mit.edu	37	chr1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatactctgttgtgttcccGcagccagattgtggcataca	10	11	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTGTGTTCCCGCAGCCAGATT	0.507																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(877-879)Cgg>Tgg		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						142	131	135					1																	186645692		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645692G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.877C>T	1.37:g.186645692G>A	ENSP00000356438:p.Arg293Trp					PTGS2_ENST00000490885.2_5'UTR	p.R293W	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			7	1013	-			293					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.877C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661102	0.67700	.	.	ENSG00000073756	ENST00000367468	D	0.81499	-1.5	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94695	0.7877	10	0.87932	D	0	-21.2931	13.7625	0.62975	0.0:0.0:0.6055:0.3945	.	293;293	Q8IZA9;P35354	.;PGH2_HUMAN	W	293	ENSP00000356438:R293W	ENSP00000356438:R293W	R	-	1	2	PTGS2	184912315	0.980000	0.34600	0.944000	0.38274	0.794000	0.44872	1.795000	0.38784	1.321000	0.45227	-0.158000	0.13435	CGG		0.507	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		70	95	0	0	0	1	0	70	95					A	186645692	G	A	186645692	3	1	311	1	0	0	0	0	1	0	0	0	12756	1086	38	1	953	1	PTGS2	1	186645692	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7335400	186645692	62604929	59	31133											
PTPRC	5788	broad.mit.edu	37	chr1	198671623	198671623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgctgccttacctgcaCgcacctccaacaccaccatc	5	20	1	0	rs561155698		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	ENST00000367376.2	+	6	712	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					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						CTTACCTGCACGCACCTCCAA	0.498																																						ENST00000367376.2																			0				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						c.(541-543)Cgc>Tgc		protein tyrosine phosphatase, receptor type, C							381	305	331					1																	198671623		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198671623C>T	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.541C>T	1.37:g.198671623C>T	ENSP00000356346:p.Arg181Cys					PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000352140.3_Intron	p.R181C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			6	712	+			181					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	C	17.54	3.414662	0.62511	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000271610;ENST00000442510;ENST00000367367	.	.	.	5.84	4.93	0.64822	.	0.871707	0.09802	N	0.754012	T	0.70631	0.3246	M	0.62723	1.935	0.80722	D	1	D;P;D	0.89917	1.0;0.812;0.997	P;B;P	0.60682	0.878;0.093;0.642	T	0.65429	-0.6170	9	0.72032	D	0.01	.	10.6509	0.45647	0.0:0.9125:0.0:0.0875	.	117;222;181	F5GXZ3;Q6Q1P2;P08575	.;.;PTPRC_HUMAN	C	183;117;222;181;115	.	ENSP00000271610:R222C	R	+	1	0	PTPRC	196938246	0.580000	0.26733	0.494000	0.27515	0.675000	0.39556	2.145000	0.42207	1.471000	0.48121	0.650000	0.86243	CGC		0.498	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				125	247	0	0	0	1	0	125	247					T	198671623	C	T	198671623	3	4	311	1	0	0	0	0	1	0	0	0	12797	536	19	1	570	1	PTPRC	1	198671623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12025931	198671623	50578998	60	31134											
IGFN1	91156	broad.mit.edu	37	chr1	201184276	201184276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcgaggccaccctgaccGtccagggtaaggcccagccc	13	16	0	2	rs189723461		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	ENST00000335211.4	+	14	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	540						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						CACCCTGACCGTCCAGGGTAA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19622	0.001		0.0	False		,,,				2504	0.0					ENST00000335211.4																			0				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						c.(8989-8991)Gtc>Atc		immunoglobulin-like and fibronectin type III domain containing 1							53	44	47					1																	201184276		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201184276G>A	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.8989G>A	1.37:g.201184276G>A	ENSP00000334714:p.Val2997Ile					IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	p.V2997I	NM_001164586.1	NP_001158058.1					14	9119	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8989G>A	CCDS53455.1	3|3	0.0013736263736263737|0.0013736263736263737	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	13.47|13.47	2.248277|2.248277	0.39697|0.39697	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000451870;ENST00000295591	.|T;T;T	.|0.62788	.|0.0;0.0;0.0	4.65|4.65	1.55|1.55	0.23275|0.23275	.|.	.|0.162941	.|0.40144	.|N	.|0.001178	T|T	0.64789|0.64789	0.2630|0.2630	L|L	0.54965|0.54965	1.715|1.715	0.09310|0.09310	N|N	1|1	.|P	.|0.48998	.|0.918	.|P	.|0.56278	.|0.795	T|T	0.54200|0.54200	-0.8329|-0.8329	5|10	.|0.30854	.|T	.|0.27	.|.	8.8132|8.8132	0.34981|0.34981	0.2769:0.0:0.7231:0.0|0.2769:0.0:0.7231:0.0	.|.	.|2997	.|F8WAI1	.|.	H|I	414|2997;540;157	.|ENSP00000334714:V2997I;ENSP00000398386:V540I;ENSP00000295591:V157I	.|ENSP00000295591:V157I	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199450899|199450899	0.771000|0.771000	0.28555|0.28555	0.007000|0.007000	0.13788|0.13788	0.329000|0.329000	0.28539|0.28539	1.489000|1.489000	0.35562|0.35562	0.590000|0.590000	0.29694|0.29694	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		26	37	0	0	0	1	0	26	37					A	201184276	G	A	201184276	3	1	311	1	0	0	0	0	1	0	0	0	7590	1145	40	1	9039	1	IGFN1	1	201184276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2512653	201184276	48066345	61	31135											
NAV1	89796	broad.mit.edu	37	chr1	201757608	201757608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagtgagtcccactgCggccaccacgccaagaatca	8	17	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	ENST00000367296.4	+	10	3428	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V|NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1003					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3007-3009)gCg>gTg		neuron navigator 1							96	95	96					1																	201757608		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201757608C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3008C>T	1.37:g.201757608C>T	ENSP00000356265:p.Ala1003Val					NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA	p.A1003V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			10	3428	+			1003					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3008C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160426	0.57368	.	.	ENSG00000134369	ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295	T;T;T;T	0.07216	3.21;3.21;3.24;3.22	5.4	5.4	0.78164	.	0.068684	0.64402	D	0.000011	T	0.16599	0.0399	N	0.24115	0.695	0.80722	D	1	P;P;B;D;P	0.89917	0.891;0.669;0.407;1.0;0.669	B;B;B;D;B	0.76071	0.184;0.059;0.105;0.987;0.059	T	0.02378	-1.1168	10	0.45353	T	0.12	-24.4652	14.4157	0.67148	0.0:0.8524:0.1476:0.0	.	1003;612;1003;511;1003	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;.;NAV1_HUMAN;.;.	V	1003;1003;1003;511;612	ENSP00000356265:A1003V;ENSP00000295624:A1003V;ENSP00000356266:A1003V;ENSP00000356264:A612V	ENSP00000295624:A1003V	A	+	2	0	NAV1	200024231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.995000	0.57001	2.526000	0.85167	0.561000	0.74099	GCG		0.652	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		12	202	0	0	0	1	0	12	202					T	201757608	C	T	201757608	3	4	311	1	0	0	0	0	1	0	0	0	10183	768	27	1	3103	1	NAV1	1	201757608	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	573332	201757608	47493013	62	31136											
ELF3	1999	broad.mit.edu	37	chr1	201982319	201982319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccccacagatggttttcGtgactgcaagaagggggatc	13	10	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	ENST00000359651.3	+	6	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H					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						GATGGTTTTCGTGACTGCAAG	0.597																																						ENST00000359651.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(697-699)cGt>cAt		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							61	61	61					1																	201982319		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982319G>A	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.698G>A	1.37:g.201982319G>A	ENSP00000352673:p.Arg233His					ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H|RP11-510N19.5_ENST00000504773.1_RNA	p.R233H			P78545	ELF3_HUMAN			6	3890	+			233						Missense_Mutation	SNP	ENST00000359651.3	37	c.698G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671306	0.29693	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.44083	2.53;2.53;2.53;0.93	5.37	2.51	0.30379	.	2.080710	0.04561	U	0.391554	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	B	0.21225	0.053	B	0.04013	0.001	T	0.21075	-1.0256	10	0.13470	T	0.59	.	4.4665	0.11691	0.0:0.5344:0.162:0.3036	.	233	P78545	ELF3_HUMAN	H	233;233;233;210;231	ENSP00000352673:R233H;ENSP00000356253:R233H;ENSP00000356252:R233H;ENSP00000405162:R231H	ENSP00000311348:R210H	R	+	2	0	ELF3	200248942	0.000000	0.05858	0.008000	0.14137	0.057000	0.15508	0.607000	0.24209	0.266000	0.21894	-0.228000	0.12330	CGT		0.597	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		44	58	0	0	0	1	0	44	58					A	201982319	G	A	201982319	3	1	311	1	0	0	0	0	1	0	0	0	5055	1145	40	1	720	1	ELF3	1	201982319	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	224711	201982319	47268302	63	31137											
ADIPOR1	51094	broad.mit.edu	37	chr1	202914187	202914187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagctgaggcagagcaCtgcacccaaaaagaacatcc	11	11	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	ENST00000340990.5	-	5	839	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M|ADIPOR1_ENST00000367254.3_Intron	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	181					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(541-543)Gtg>Atg		adiponectin receptor 1							107	112	110					1																	202914187		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202914187C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.541G>A	1.37:g.202914187C>T	ENSP00000341785:p.Val181Met					ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M	p.V181M	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	839	-			181					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.541G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188061	0.57909	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.24661	0.0598	N	0.21617	0.685	0.80722	D	1	B	0.22480	0.07	B	0.32342	0.144	T	0.06391	-1.0829	10	0.20519	T	0.43	.	14.3901	0.66973	0.0:0.9292:0.0:0.0708	.	181	Q96A54	ADR1_HUMAN	M	181	ENSP00000341785:V181M;ENSP00000395469:V181M;ENSP00000402178:V181M;ENSP00000392946:V181M	ENSP00000341785:V181M	V	-	1	0	ADIPOR1	201180810	1.000000	0.71417	0.939000	0.37840	0.997000	0.91878	4.978000	0.63799	1.636000	0.50526	0.655000	0.94253	GTG		0.448	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		52	77	0	0	0	1	0	52	77					T	202914187	C	T	202914187	3	4	311	1	0	0	0	0	1	0	0	0	318	565	20	2	602	2	ADIPOR1	1	202914187	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	931868	202914187	46336434	64	31138											
FMOD	2331	broad.mit.edu	37	chr1	203311549	203311549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgatctcgttcccGtccaggcgcagcacctgcag	11	16	1	1	rs142981560		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	ENST00000354955.4	-	3	1516	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	351					carbohydrate metabolic process (GO:0005975)|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)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0					ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1051-1053)gaC>gaT		fibromodulin		G		6,4400	11.4+/-27.6	0,6,2197	40	39	39		1053	0.2	1	1	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	FMOD	NM_002023.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		351/377	203311549	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203311549G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.1053C>T	1.37:g.203311549G>A			OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2136	FMOD_ENST00000464898.1_5'UTR	p.D351D	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		3	1516	-			351					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.1053C>T	CCDS30976.1																																																																																				0.642	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		32	50	0	0	0	1	0	32	50					A	203311549	G	A	203311549	2	1	311	1	0	0	0	0	0	0	0	1	5959	1136	40	1		1	FMOD	1	203311549	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	397362	203311549	45939072	65	31139											
DSTYK	25778	broad.mit.edu	37	chr1	205138721	205138721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgataaagcggtgatctttcGctctccattctcctggttga	9	11	3	2	rs376327322		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	ENST00000367162.3	-	3	924	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_ENST00000367160.4_Silent_p.S298S|DSTYK_ENST00000367161.3_Silent_p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	298					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	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)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(892-894)agC>agT		dual serine/threonine and tyrosine protein kinase		G	,	0,4406		0,0,2203	93	86	89		894,894	-0.7	0.2	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSTYK	NM_015375.2,NM_199462.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	298/930,298/885	205138721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138721G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.894C>T	1.37:g.205138721G>A						DSTYK_ENST00000367161.3_Silent_p.S298S|DSTYK_ENST00000367160.4_Silent_p.S298S	p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			3	924	-			298					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.894C>T	CCDS1451.1																																																																																				0.483	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		16	75	0	0	0	1	0	16	75					A	205138721	G	A	205138721	2	1	311	1	0	0	0	0	0	0	0	1	4785	1078	38	1		1	DSTYK	1	205138721	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1827172	205138721	44111900	66	31140											
RAB7L1	8934	broad.mit.edu	37	chr1	205740772	205740772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgtcatagaggtgaagCgctcctgccctggggagaaa	14	9	1	3	rs377322888		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	ENST00000367139.3	-	4	509	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000468887.1_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		69					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517																																					Pancreas(25;658 872 27763 34889 38531)	ENST00000367139.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(205-207)cGc>cAc		RAB7, member RAS oncogene family-like 1		C	HIS/ARG,HIS/ARG,,HIS/ARG	0,4406		0,0,2203	111	101	104		206,134,,206	5.3	1	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-5,missense	RAB7L1	NM_001135662.1,NM_001135663.1,NM_001135664.1,NM_003929.2	29,29,,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	69/204,45/180,,69/204	205740772	1,13005	2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205740772C>T																												ENST00000367139.3:c.206G>A	1.37:g.205740772C>T	ENSP00000356107:p.Arg69His					RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H	p.R69H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		4	509	-	Breast(84;0.0799)		69					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.206G>A	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166743	0.78339	0.0	1.16E-4	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000446390;ENST00000414729	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.28	5.28	0.74379	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.92923	3.36	0.52099	D	0.999943	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.958	D	0.92868	0.6312	10	0.87932	D	0	-14.6585	16.679	0.85287	0.0:1.0:0.0:0.0	.	45;69	B4E1K3;O14966	.;RAB7L_HUMAN	H	69;69;45;69	ENSP00000356107:R69H;ENSP00000235932:R69H;ENSP00000389899:R45H;ENSP00000402910:R69H	ENSP00000235932:R69H	R	-	2	0	RAB7L1	204007395	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	5.561000	0.67339	2.452000	0.82932	0.313000	0.20887	CGC		0.517	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1			62	91	0	0	0	1	0	62	91					T	205740772	C	T	205740772	3	4	311	1	0	0	0	0	1	0	0	0	12955	768	27	1	417	1	RAB7L1	1	205740772	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	602051	205740772	43509849	67	31141											
CR1	1378	broad.mit.edu	37	chr1	207793265	207793265	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtttatgaatggaatctcGaaggagttagaaatgaaaaa	10	3	1	3	rs188203769	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	ENST00000367049.4	+	43	7107	c.7107G>A	c.(7105-7107)tcG>tcA	p.S2369S	CR1_ENST00000367051.1_Silent_p.S1919S|CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367053.1_Silent_p.S1919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1919					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21608	0.001		0.0	False		,,,				2504	0.0					ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7105-7107)tcG>tcA		complement component (3b/4b) receptor 1 (Knops blood group)		G	,	6,3894		0,6,1944	46	47	47		5757,7107	2.7	0	1		47	0,8358		0,0,4179	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,6,6123	AA,AG,GG		0.0,0.1538,0.0489	,	1919/2040,2369/2490	207793265	6,12252	1950	4179	6129	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793265G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7107G>A	1.37:g.207793265G>A						CR1_ENST00000367053.1_Silent_p.S1919S|CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367051.1_Silent_p.S1919S	p.S2369S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7107	+			1919					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.7107G>A	CCDS44308.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.020	-1.441225	0.01098	0.001538	0.0	ENSG00000203710	ENST00000529814	.	.	.	4.6	2.69	0.31865	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.19910	-1.0291	4	.	.	.	.	7.4819	0.27411	0.2009:0.0:0.7991:0.0	.	.	.	.	Q	542	.	.	R	+	2	0	CR1	205859888	0.002000	0.14202	0.002000	0.10522	0.075000	0.17131	0.398000	0.20899	0.649000	0.30751	0.650000	0.86243	CGA		0.363	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	14	0	0	0	1	0	6	14					A	207793265	G	A	207793265	2	1	311	1	0	0	0	0	0	0	0	1	3840	1045	37	1		1	CR1	1	207793265	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2052493	207793265	41457356	68	31142											
CR1	1378	broad.mit.edu	37	chr1	207793369	207793369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagccagtgccaggCggatgacagatgggaccctc	14	13	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	ENST00000367049.4	+	43	7211	c.7211C>T	c.(7210-7212)gCg>gTg	p.A2404V	CR1_ENST00000367051.1_Missense_Mutation_p.A1954V|CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367053.1_Missense_Mutation_p.A1954V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1954					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7210-7212)gCg>gTg		complement component (3b/4b) receptor 1 (Knops blood group)							80	88	85					1																	207793369		2112	4266	6378	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793369C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7211C>T	1.37:g.207793369C>T	ENSP00000356016:p.Ala2404Val		OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2170	CR1_ENST00000367053.1_Missense_Mutation_p.A1954V|CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367051.1_Missense_Mutation_p.A1954V	p.A2404V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7211	+			1954					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.7211C>T	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.216|2.216	-0.379526|-0.379526	0.05000|0.05000	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2|.	4.6|4.6	-4.99|-4.99	0.03010|0.03010	Complement control module (2);Sushi/SCR/CCP (3);|.	.|.	.|.	.|.	.|.	T|T	0.37839|0.37839	0.1018|0.1018	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	P;D|.	0.89917|.	0.599;1.0|.	B;D|.	0.70487|.	0.113;0.969|.	T|T	0.42032|0.42032	-0.9475|-0.9475	9|5	0.28530|.	T|.	0.3|.	.|.	4.5927|4.5927	0.12315|0.12315	0.5582:0.2623:0.0944:0.0851|0.5582:0.2623:0.0944:0.0851	.|.	1954;2404|.	P17927;E9PDY4|.	CR1_HUMAN;.|.	V|W	1954;1954;1954;1954;2404|577	ENSP00000356019:A1954V;ENSP00000356018:A1954V;ENSP00000356020:A1954V;ENSP00000383744:A1954V;ENSP00000356016:A2404V|.	ENSP00000356016:A2404V|.	A|R	+|+	2|1	0|2	CR1|CR1	205859992|205859992	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.031000|0.031000	0.12232|0.12232	-0.589000|-0.589000	0.05767|0.05767	-1.050000|-1.050000	0.03230|0.03230	-0.188000|-0.188000	0.12872|0.12872	GCG|CGG		0.468	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		24	34	0	0	0	1	0	24	34					T	207793369	C	T	207793369	3	4	311	1	0	0	0	0	1	0	0	0	3840	768	27	1	7381	1	CR1	1	207793369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	104	207793369	41457252	69	31143											
IARS2	55699	broad.mit.edu	37	chr1	220307791	220307791	+	Frame_Shift_Del	DEL	G	G	-													tggaaggaaaagaccagctcGggggttggtttcagtcatcc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	ENST00000302637.5	+	15	1989	c.1885delG	c.(1885-1887)gggfs	p.G630fs	snoU13_ENST00000459443.1_RNA|IARS2_ENST00000366922.1_Frame_Shift_Del_p.G558fs	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	630					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1669-1671)ggfs		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						81	79	80					1																	220307791		2203	4300	6503	SO:0001589	frameshift_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220307791delG	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1885delG	1.37:g.220307791delG	ENSP00000303279:p.Gly630fs					IARS2_ENST00000302637.5_Frame_Shift_Del_p.G630fs	p.G558fs			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	15	2000	+			630					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Frame_Shift_Del	DEL	ENST00000302637.5	37	c.1669delG	CCDS1523.1																																																																																				0.383	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		8	147						8	147	---	---	---	---	-	220307791	G	-	220307791	7	5	311	1	0	1	0	1	0	0	0	0	7474	1116	39	0	1943	0	IARS2	1	220307791	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	12514422	220307791	28942830	70	31144											
MARK1	4139	broad.mit.edu	37	chr1	220791991	220791991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattaaggaactgcgagagcGagttttacgagggaagtacc	13	6	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	ENST00000366917.4	+	9	1069	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	MARK1_ENST00000402574.1_Missense_Mutation_p.R133Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(397-399)cGa>cAa		MAP/microtubule affinity-regulating kinase 1							99	100	100					1																	220791991		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791991G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.803G>A	1.37:g.220791991G>A	ENSP00000355884:p.Arg268Gln					MARK1_ENST00000366917.4_Missense_Mutation_p.R268Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q	p.R133Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	9	1400	+			268			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.398G>A	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039459	0.75617	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.65364	-0.15;-0.15;-0.15	5.85	4.94	0.65067	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	0.000001	T	0.60222	0.2252	N	0.04297	-0.235	0.80722	D	1	P;P;D;D	0.76494	0.911;0.865;0.999;0.999	B;B;D;D	0.69824	0.341;0.215;0.956;0.966	T	0.71666	-0.4524	10	0.87932	D	0	.	15.0792	0.72103	0.068:0.0:0.932:0.0	.	268;133;268;246	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	Q	133;246;268	ENSP00000386017:R133Q;ENSP00000355885:R246Q;ENSP00000355884:R268Q	ENSP00000355884:R268Q	R	+	2	0	MARK1	218858614	1.000000	0.71417	0.953000	0.39169	0.057000	0.15508	7.954000	0.87848	1.481000	0.48307	0.655000	0.94253	CGA		0.353	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			31	72	0	0	0	1	0	31	72					A	220791991	G	A	220791991	3	1	311	1	0	0	0	0	1	0	0	0	9312	1058	37	1	837	1	MARK1	1	220791991	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	484200	220791991	28458630	71	31145											
DISP1	84976	broad.mit.edu	37	chr1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	TG	-													tgtgattgtccttttagttaTgtgtgtctacaccaagtcca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	ENST00000284476.6	+	8	1717_1718	c.1553_1554delTG	c.(1552-1554)atgfs	p.M518fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	518	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTTAGTTATGTGTGTCTACA	0.361																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1552-1554)afs		dispatched homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176292_223176293delTG	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1553_1554delTG	1.37:g.223176296_223176297delTG	ENSP00000284476:p.Met518fs						p.M518fs	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1717_1718	+			518			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Frame_Shift_Del	DEL	ENST00000284476.6	37	c.1553_1554delTG	CCDS1536.1																																																																																				0.361	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		30	143						30	143	---	---	---	---	-	223176293	TG	-	223176292	7	5	311	1	0	1	0	1	0	0	0	0	4539	1464	51	0	1579	0	DISP1	1	223176292	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	2384301	223176292	26074329	72	31146											
CDC42BPA	8476	broad.mit.edu	37	chr1	227261695	227261695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtttcgcaaaacgacGcattttccagggcatatcct	7	12	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:227261695G>A	ENST00000366769.3	-	19	3896	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCAAAACGACGCATTTTCCAG	0.378																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(2605-2607)Cgt>Tgt		CDC42 binding protein kinase alpha (DMPK-like)							137	135	136					1																	227261695		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261695G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2605C>T	1.37:g.227261695G>A	ENSP00000355731:p.Arg869Cys					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C	p.R869C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			19	3896	-		all_cancers(173;0.156)|Prostate(94;0.0792)	869						Missense_Mutation	SNP	ENST00000366769.3	37	c.2605C>T	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.020335|4.020335	0.75275|0.75275	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.7|5.7	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67571|0.67571	0.2907|0.2907	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|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;0.932;0.999;0.988;0.993;0.987	T|T	0.71751|0.71751	-0.4498|-0.4498	5|10	.|0.87932	.|D	.|0	.|.	13.0331|13.0331	0.58854|0.58854	0.0:0.1232:0.7487:0.1281|0.0:0.1232:0.7487:0.1281	.|.	.|869;869;133;788;869;869;71	.|F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.	V|C	71;162;42|869;788;869;869;869;133;869;869	.|ENSP00000355731:R869C;ENSP00000355729:R788C;ENSP00000335341:R869C;ENSP00000355728:R869C;ENSP00000355726:R869C;ENSP00000443275:R869C;ENSP00000355727:R869C	.|ENSP00000335341:R869C	A|R	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225328318|225328318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.143000|6.143000	0.71756|0.71756	1.396000|1.396000	0.46663|0.46663	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		9	239	0	0	0	1	0	9	239					A	227261695	G	A	227261695	3	1	311	1	0	0	0	0	1	0	0	0	3072	1087	38	1	2626	1	CDC42BPA	1	227261695	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4085403	227261695	21988926	73	31147											
C1orf69	200205	broad.mit.edu	37	chr1	228362946	228362946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggagctgacggcccGcacccaccacatgggcgtca	13	16	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228362946G>A	ENST00000366711.3	+	3	805	c.803G>A	c.(802-804)cGc>cAc	p.R268H	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.R75H	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	268					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						CTGACGGCCCGCACCCACCAC	0.647																																						ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(802-804)cGc>cAc		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)							65	61	62					1																	228362946		2203	4299	6502	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362946G>A	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.803G>A	1.37:g.228362946G>A	ENSP00000355672:p.Arg268His					IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.R75H	p.R268H	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			3	805	+			268						Missense_Mutation	SNP	ENST00000366711.3	37	c.803G>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498802	0.96355	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.69806	-0.43;-0.43	5.08	5.08	0.68730	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93810	0.7109	10	0.87932	D	0	-36.2182	18.654	0.91441	0.0:0.0:1.0:0.0	.	268	Q5T440	CAF17_HUMAN	H	268;75	ENSP00000355672:R268H;ENSP00000437347:R75H	ENSP00000355672:R268H	R	+	2	0	IBA57	226429569	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.040000	0.93783	2.640000	0.89533	0.655000	0.94253	CGC		0.647	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		24	168	0	0	0	1	0	24	168					A	228362946	G	A	228362946	3	1	311	1	0	0	0	0	1	0	0	0	2057	1087	38	1	813	1	C1orf69	1	228362946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1101251	228362946	20887675	74	31148											
OBSCN	84033	broad.mit.edu	37	chr1	228471282	228471282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgttcacgtgcaagaCggagcaccccgcggccacag	13	14	1	1	rs370871187		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	ENST00000422127.1	+	33	8860	c.8816C>T	c.(8815-8817)aCg>aTg	p.T2939M	OBSCN_ENST00000570156.2_Missense_Mutation_p.T3368M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M|OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2939	Ig-like 29.				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)				ACGTGCAAGACGGAGCACCCC	0.632																																						ENST00000570156.2																			0				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						c.(10102-10104)aCg>aTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							38	44	42					1																	228471282		2132	4237	6369	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471282C>T	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.8816C>T	1.37:g.228471282C>T	ENSP00000409493:p.Thr2939Met					OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T2939M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M	p.T3368M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			38	10177	+		Prostate(94;0.0405)	2402			Ig-like 34.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10103C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	17.67	3.447725	0.63178	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069708	0.53938	D	0.000041	T	0.81786	0.4896	M	0.79614	2.46	0.30508	N	0.769726	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.971;0.992;0.988	T	0.80770	-0.1234	10	0.49607	T	0.09	.	16.287	0.82725	0.0:0.8588:0.1412:0.0	.	2939;2939;2939	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	M	2939;2939;58;58;1786;638;345	ENSP00000284548:T2939M;ENSP00000409493:T2939M;ENSP00000355668:T58M;ENSP00000355670:T58M;ENSP00000352613:T1786M	ENSP00000284548:T2939M	T	+	2	0	OBSCN	226537905	1.000000	0.71417	0.678000	0.29963	0.011000	0.07611	6.166000	0.71896	2.673000	0.90976	0.550000	0.68814	ACG		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		30	53	0	0	0	1	0	30	53					T	228471282	C	T	228471282	3	4	311	1	0	0	0	0	1	0	0	0	10812	536	19	1	8942	1	OBSCN	1	228471282	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	108336	228471282	20779339	75	31149											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574983	232574983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggcccagagacgtcgGcagcatcagcccactgctcg	12	16	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	ENST00000366630.1	-	14	4260	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1301					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)				AGAGACGTCGGCAGCATCAGC	0.667																																						ENST00000366630.1																			0				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						c.(3901-3903)gCc>gTc		signal-induced proliferation-associated 1 like 2							35	41	39					1																	232574983		2062	4202	6264	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574983G>A	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.3902C>T	1.37:g.232574983G>A	ENSP00000355589:p.Ala1301Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V	p.A1301V			Q9P2F8	SI1L2_HUMAN			14	4260	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1301					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.3902C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368635	0.11352	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.78707	-1.2;-1.2;2.75	5.04	2.09	0.27110	.	0.565123	0.17668	N	0.166066	T	0.61652	0.2364	L	0.36672	1.1	0.25891	N	0.983476	B;B	0.34015	0.011;0.435	B;B	0.27500	0.01;0.08	T	0.45249	-0.9274	10	0.18276	T	0.48	-4.0131	8.9102	0.35548	0.0771:0.3134:0.6095:0.0	.	1301;375	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	V	1301;1301;375	ENSP00000355589:A1301V;ENSP00000262861:A1301V;ENSP00000309102:A375V	ENSP00000262861:A1301V	A	-	2	0	SIPA1L2	230641606	0.469000	0.25846	0.054000	0.19295	0.008000	0.06430	0.820000	0.27323	0.276000	0.22118	-0.176000	0.13171	GCC		0.667	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		12	137	0	0	0	1	0	12	137					A	232574983	G	A	232574983	3	1	311	1	0	0	0	0	1	0	0	0	14330	1203	42	2	1302	2	SIPA1L2	1	232574983	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4103701	232574983	16675638	76	31150											
KIAA1804	84451	broad.mit.edu	37	chr1	233497841	233497841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agctgactcgggcggctctgCagcagaagtctcaggaggag	16	10	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:233497841C>G	ENST00000366624.3	+	5	1615	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	MLK4_ENST00000366623.3_Missense_Mutation_p.Q452E	NM_032435.2	NP_115811.2																					GGCGGCTCTGCAGCAGAAGTC	0.582																																						ENST00000366624.3																			0											c.(1354-1356)Cag>Gag									21	25	24					1																	233497841		2203	4300	6503	SO:0001583	missense	0							g.chr1:233497841C>G																												ENST00000366624.3:c.1354C>G	1.37:g.233497841C>G	ENSP00000355583:p.Gln452Glu					MLK4_ENST00000366623.3_Missense_Mutation_p.Q452E	p.Q452E	NM_032435.2	NP_115811.2					5	1615	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1354C>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	6.922	0.539875	0.13250	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.74737	-0.81;-0.87	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.58264	0.2110	L	0.28740	0.885	0.80722	D	1	B;B	0.22003	0.063;0.005	B;B	0.17722	0.019;0.013	T	0.53676	-0.8405	10	0.02654	T	1	.	13.6874	0.62524	0.0:0.8454:0.1546:0.0	.	452;452	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	E	452	ENSP00000355582:Q452E;ENSP00000355583:Q452E	ENSP00000355582:Q452E	Q	+	1	0	RP5-862P8.2	231564464	1.000000	0.71417	0.993000	0.49108	0.907000	0.53573	4.680000	0.61656	2.465000	0.83290	0.655000	0.94253	CAG		0.582	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			3	49	0	0	0	1	0	3	49					G	233497841	C	G	233497841	3	3	311	1	0	0	0	0	1	0	0	0	8259	711	25	4	1372	4	KIAA1804	1	233497841	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	922858	233497841	15752780	77	31151											
KIF26B	55083	broad.mit.edu	37	chr1	245848743	245848743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggcggggagagctcctgcGaagaaggccgcatgcgcagg	18	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	ENST00000407071.2	+	12	2898	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	KIF26B_ENST00000366518.4_Missense_Mutation_p.E439K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	820					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)			GAGCTCCTGCGAAGAAGGCCG	0.652																																						ENST00000366518.4																			0				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						c.(1315-1317)Gaa>Aaa		kinesin family member 26B							46	53	51					1																	245848743		2181	4263	6444	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245848743G>A	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.2458G>A	1.37:g.245848743G>A	ENSP00000385545:p.Glu820Lys					KIF26B_ENST00000407071.2_Missense_Mutation_p.E820K	p.E439K			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1419	+	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)		820					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1315G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858515	0.71834	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79352	-1.26;-1.21	5.84	5.84	0.93424	.	.	.	.	.	D	0.88746	0.6520	M	0.83953	2.67	0.80722	D	1	D;P	0.76494	0.999;0.883	D;B	0.63381	0.914;0.293	D	0.89056	0.3459	9	0.62326	D	0.03	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	439;820	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	820;439;436	ENSP00000385545:E820K;ENSP00000355475:E439K	ENSP00000355475:E439K	E	+	1	0	KIF26B	243915366	1.000000	0.71417	0.932000	0.37286	0.384000	0.30261	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	GAA		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		18	36	0	0	0	1	0	18	36					A	245848743	G	A	245848743	3	1	311	1	0	0	0	0	1	0	0	0	8295	1059	37	1	2504	1	KIF26B	1	245848743	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12350902	245848743	3401878	78	31152											
AHCTF1	25909	broad.mit.edu	37	chr1	247021040	247021040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcttcagttccttgaacCgggcttaagtgattcaattc	9	9	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:247021040C>T	ENST00000391829.2	-	30	4332	c.4209G>A	c.(4207-4209)ccG>ccA	p.P1403P	AHCTF1_ENST00000366508.1_Silent_p.P1438P|AHCTF1_ENST00000326225.3_Silent_p.P1412P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1403	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)			TTCCTTGAACCGGGCTTAAGT	0.343																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				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						c.(4312-4314)ccG>ccA		AT hook containing transcription factor 1							59	60	59					1																	247021040		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247021040C>T		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.4209G>A	1.37:g.247021040C>T						AHCTF1_ENST00000391829.2_Silent_p.P1403P|AHCTF1_ENST00000326225.3_Silent_p.P1412P|AHCTF1_ENST00000470300.1_5'UTR	p.P1438P			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		30	4450	-	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)	1403			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.4314G>A																																																																																					0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		4	69	0	0	0	1	0	4	69					T	247021040	C	T	247021040	2	4	311	1	0	0	0	0	0	0	0	1	408	639	23	1		1	AHCTF1	1	247021040	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1172297	247021040	2229581	79	31153											
PXDN	7837	broad.mit.edu	37	chr2	1684083	1684083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtaggttttcagcaaatcCgccaaccacaggatttcaca	8	12	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	ENST00000252804.4	-	7	662	c.612G>A	c.(610-612)gcG>gcA	p.A204A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	204	LRRCT.				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)		TCAGCAAATCCGCCAACCACA	0.587																																						ENST00000252804.4																			0				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						c.(610-612)gcG>gcA		peroxidasin homolog (Drosophila)							91	95	94					2																	1684083		2182	4282	6464	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1684083C>T	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.612G>A	2.37:g.1684083C>T							p.A204A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	7	662	-	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)	204			LRRCT.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.612G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.174|0.174	-1.068862|-1.068862	0.01918|0.01918	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000433670	.|.	.|.	.|.	4.64|4.64	-9.28|-9.28	0.00656|0.00656	.|.	.|.	.|.	.|.	.|.	T|T	0.41811|0.41811	0.1175|0.1175	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45991|0.45991	-0.9223|-0.9223	4|4	.|.	.|.	.|.	-38.1052|-38.1052	4.3391|4.3391	0.11101|0.11101	0.0821:0.2352:0.1645:0.5181|0.0821:0.2352:0.1645:0.5181	.|.	.|.	.|.	.|.	R|Q	128|200	.|.	.|.	G|R	-|-	1|2	0|0	PXDN|PXDN	1663090|1663090	0.000000|0.000000	0.05858|0.05858	0.054000|0.054000	0.19295|0.19295	0.007000|0.007000	0.05969|0.05969	-2.632000|-2.632000	0.00870|0.00870	-2.100000|-2.100000	0.00848|0.00848	-1.749000|-1.749000	0.00680|0.00680	GGA|CGG		0.587	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		22	19	0	0	0	1	0	22	19					T	1684083	C	T	1684083	2	4	311	1	0	0	0	0	0	0	0	1	12847	639	23	1		1	PXDN	2	1684083	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1684083	241515290	80	31154											
ODC1	4953	broad.mit.edu	37	chr2	10582006	10582006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaaatgatccatagacGccatcattcacataatacat	3	10	2	2	rs548861296	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	ENST00000234111.4	-	10	1473	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_ENST00000405333.1_Silent_p.G321G|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		22276	0.0		0.0	False		,,,				2504	0.0031					ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(961-963)ggC>ggT		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						175	169	171					2																	10582006		2203	4300	6503	SO:0001819	synonymous_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582006G>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.963C>T	2.37:g.10582006G>A						ODC1_ENST00000405333.1_Silent_p.G321G	p.G321G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	10	1473	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		321					Q53TU3|Q6LDS9	Silent	SNP	ENST00000234111.4	37	c.963C>T	CCDS1672.1																																																																																				0.378	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			34	236	0	0	0	1	0	34	236					A	10582006	G	A	10582006	2	1	311	1	0	0	0	0	0	0	0	1	10825	1074	38	1		1	ODC1	2	10582006	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8897923	10582006	232617367	81	31155											
PFN4	375189	broad.mit.edu	37	chr2	24344101	24344103	+	In_Frame_Del	DEL	CTT	CTT	-													ttttcccttgaaatacagtcCttctcttcgggcttgcaaag					rs555639473		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	ENST00000313213.4	-	3	556_558	c.185_187delAAG	c.(184-189)gaagga>gga	p.E62del	FAM228B_ENST00000407625.1_5'Flank|PFN4_ENST00000465360.1_5'UTR|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	62					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453																																						ENST00000313213.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						c.(184-189)gga>g		profilin family, member 4																																				SO:0001651	inframe_deletion	375189				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr2:24344101_24344103delCTT	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.185_187delAAG	2.37:g.24344101_24344103delCTT	ENSP00000322170:p.Glu62del					PFN4_ENST00000465360.1_5'UTR	p.EG62del	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN			3	556_558	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62					Q53TL9	In_Frame_Del	DEL	ENST00000313213.4	37	c.185_187delAAG	CCDS1709.1																																																																																				0.453	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2	NM_199346		93	103						93	103	---	---	---	---	-	24344103	CTT	-	24344101	7	5	311	1	0	1	0	1	0	0	0	0	11770	690	24	0	214	0	PFN4	2	24344101	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	13762095	24344101	218855272	82	31156											
DNMT3A	1788	broad.mit.edu	37	chr2	25464537	25464537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctccgaggcaatgtagCggtccacctgaatgcccaag	10	14	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	ENST00000264709.3	-	17	2313	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	659	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)	p.R659H(1)|p.R470H(1)		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)					GGCAATGTAGCGGTCCACCTG	0.627			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)	p.R659H(1)|p.R470H(1)	endometrium(2)	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						c.(1975-1977)cGc>cAc		DNA (cytosine-5-)-methyltransferase 3 alpha							153	90	112					2																	25464537		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25464537C>T		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.1976G>A	2.37:g.25464537C>T	ENSP00000264709:p.Arg659His					DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H	p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			17	2313	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		659					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1976G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649263	0.87958	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.45	5.45	0.79879	.	0.051450	0.85682	D	0.000000	T	0.77691	0.4168	N	0.14661	0.345	0.80722	D	1	B;D	0.57571	0.364;0.98	B;P	0.48227	0.037;0.571	T	0.81607	-0.0856	10	0.59425	D	0.04	-9.1764	17.8435	0.88722	0.0:1.0:0.0:0.0	.	659;470	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	470;659;659;436	ENSP00000370122:R470H;ENSP00000324375:R659H;ENSP00000264709:R659H;ENSP00000384237:R436H	ENSP00000264709:R659H	R	-	2	0	DNMT3A	25318041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.747000	0.47475	2.573000	0.86826	0.561000	0.74099	CGC		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		31	28	0	0	0	1	0	31	28					T	25464537	C	T	25464537	3	4	311	1	0	0	0	0	1	0	0	0	4676	768	27	1	790	1	DNMT3A	2	25464537	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1120436	25464537	217734836	83	31157											
HADHA	3030	broad.mit.edu	37	chr2	26414365	26414365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacctcccagacaaggCgggaagccaagcccaaagac	10	15	0	2	rs186499456		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	ENST00000380649.3	-	19	2262	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	711					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGACAAGGCGGGAAGCCAA	0.552													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19000	0.0		0.0	False		,,,				2504	0.0					ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	GRCh37	CI972619	HADHA	I	rs186499456	c.(2131-2133)ccG>ccA		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						63	57	59					2																	26414365		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26414365C>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.2133G>A	2.37:g.26414365C>T							p.P711P	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			19	2262	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		711					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.2133G>A	CCDS1721.1																																																																																				0.552	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		47	43	0	0	0	1	0	47	43					T	26414365	C	T	26414365	2	4	311	1	0	0	0	0	0	0	0	1	6943	755	27	1		1	HADHA	2	26414365	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	949828	26414365	216785008	84	31158											
OTOF	9381	broad.mit.edu	37	chr2	26700618	26700618	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgttcaggccttcttcCtgtgaatcaggagtgtgggt	13	8	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	ENST00000272371.2	-	19	2341		c.e19-1		OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000402415.3_Silent_p.Q48Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.e19-1		otoferlin							60	44	49					2																	26700618		2195	4292	6487	SO:0001630	splice_region_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26700618C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-1G>A	2.37:g.26700618C>T						OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000402415.3_Silent_p.Q48Q		NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			19	2341	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Splice_Site	SNP	ENST00000272371.2	37		CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726107	0.69074	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	.	.	.	4.83	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3589	0.66757	0.0:0.8504:0.1496:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OTOF	26554122	1.000000	0.71417	0.985000	0.45067	0.926000	0.56050	5.913000	0.69957	0.973000	0.38340	0.561000	0.74099	.		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		Intron	23	42	0	0	0	1	0	23	42					T	26700618	C	T	26700618	5	4	311	1	0	0	0	0	0	0	1	0	11303	695	24	2	4076	2	OTOF	2	26700618	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	286253	26700618	216498755	85	31159											
TRIM54	57159	broad.mit.edu	37	chr2	27529116	27529116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggagctggcagggcGgccggagccaggctatgaga	20	8	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	ENST00000380075.2	+	7	1242	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	TRIM54_ENST00000296098.4_Missense_Mutation_p.R343Q	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	301	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1027-1029)cGg>cAg		tripartite motif containing 54							53	60	57					2																	27529116		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27529116G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.902G>A	2.37:g.27529116G>A	ENSP00000369415:p.Arg301Gln					TRIM54_ENST00000380075.2_Missense_Mutation_p.R301Q	p.R343Q	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			8	1298	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		301					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.1028G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267287	0.80469	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.41758	1.23;0.99	5.1	4.22	0.49857	COS domain (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	L	0.55990	1.75	0.37394	D	0.912567	P;P	0.41848	0.48;0.763	B;B	0.37267	0.031;0.245	T	0.40136	-0.9579	10	0.40728	T	0.16	-23.6807	11.2343	0.48931	0.0903:0.0:0.9097:0.0	.	301;343	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	Q	301;122;343	ENSP00000369415:R301Q;ENSP00000296098:R343Q	ENSP00000296098:R343Q	R	+	2	0	TRIM54	27382620	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	3.255000	0.51484	1.141000	0.42275	0.561000	0.74099	CGG		0.642	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		51	111	0	0	0	1	0	51	111					A	27529116	G	A	27529116	3	1	311	1	0	0	0	0	1	0	0	0	16525	1116	39	1	1058	1	TRIM54	2	27529116	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	828498	27529116	215670257	86	31160											
PLB1	151056	broad.mit.edu	37	chr2	28785936	28785936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccggctgacatcaaCgtaattggagccctgggtga	13	10	1	3	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	ENST00000327757.5	+	18	1220	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	PLB1_ENST00000422425.2_Silent_p.N403N|PLB1_ENST00000329020.6_Silent_p.N80N	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	392	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(1207-1209)aaC>aaT		phospholipase B1		C	,	1,4405	2.1+/-5.4	0,1,2202	79	77	78		1209,1176	-0.9	0.3	2	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLB1	NM_001170585.1,NM_153021.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	403/1448,392/1459	28785936	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28785936C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1176C>T	2.37:g.28785936C>T						PLB1_ENST00000329020.6_Silent_p.N80N|PLB1_ENST00000327757.5_Silent_p.N392N	p.N403N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			18	1253	+	Acute lymphoblastic leukemia(172;0.155)		392			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.1209C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	0.212	-1.035572	0.02029	2.27E-4	0.0	ENSG00000163803	ENST00000404858	.	.	.	5.23	-0.936	0.10419	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.43874	D	0.996482	.	.	.	.	.	.	T	0.25257	-1.0137	4	.	.	.	-9.4253	1.3019	0.02080	0.1597:0.2767:0.2989:0.2647	.	.	.	.	M	402	.	.	T	+	2	0	PLB1	28639440	0.913000	0.31002	0.287000	0.24848	0.093000	0.18481	-0.324000	0.07986	-0.161000	0.10983	-2.118000	0.00350	ACG		0.488	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			20	85	0	0	0	1	0	20	85					T	28785936	C	T	28785936	2	4	311	1	0	0	0	0	0	0	0	1	12024	535	19	1		1	PLB1	2	28785936	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1256820	28785936	214413437	87	31161											
FAM179A	165186	broad.mit.edu	37	chr2	29240816	29240816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccgctttgcccgccacGcctcaggtgggcaggcccga	13	18	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	ENST00000379558.4	+	10	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	452										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						TGCCCGCCACGCCTCAGGTGG	0.672																																						ENST00000379558.4																			0				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						c.(1354-1356)Gcc>Acc		family with sequence similarity 179, member A							10	13	12					2																	29240816		1940	4093	6033	SO:0001583	missense	165186						binding	g.chr2:29240816G>A	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.1354G>A	2.37:g.29240816G>A	ENSP00000368876:p.Ala452Thr					FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	p.A452T	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			10	1705	+			452					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1354G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681473	0.47991	.	.	ENSG00000189350	ENST00000379558	T	0.69561	-0.41	4.26	4.26	0.50523	.	.	.	.	.	T	0.63189	0.2490	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.54759	0.76	T	0.62882	-0.6760	9	0.38643	T	0.18	.	13.0569	0.58986	0.0:0.0:0.8387:0.1612	.	452	Q6ZUX3	F179A_HUMAN	T	452	ENSP00000368876:A452T	ENSP00000368876:A452T	A	+	1	0	FAM179A	29094320	0.975000	0.34042	0.992000	0.48379	0.242000	0.25591	2.808000	0.47963	2.346000	0.79739	0.563000	0.77884	GCC		0.672	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		9	21	0	0	0	1	0	9	21					A	29240816	G	A	29240816	3	1	311	1	0	0	0	0	1	0	0	0	5505	1087	38	1	1388	1	FAM179A	2	29240816	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	454880	29240816	213958557	88	31162											
SRBD1	55133	broad.mit.edu	37	chr2	45812861	45812861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttatcatcattaaagagaCgaatgatgttggcacaaacc	8	7	2	2	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	ENST00000263736.4	-	5	763	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	234					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)			ATTAAAGAGACGAATGATGTT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.0					ENST00000263736.4																			0				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						c.(700-702)cGt>cAt		S1 RNA binding domain 1		C	HIS/ARG	0,4406		0,0,2203	107	111	110		701	5	1	2	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SRBD1	NM_018079.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	234/996	45812861	2,13004	2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45812861C>T	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.701G>A	2.37:g.45812861C>T	ENSP00000263736:p.Arg234His						p.R234H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		5	763	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	234					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.701G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482425	0.63962	0.0	2.33E-4	ENSG00000068784	ENST00000263736	T	0.43688	0.94	5.04	5.04	0.67666	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.222994	0.32258	N	0.006344	T	0.47469	0.1447	M	0.61703	1.905	0.80722	D	1	D	0.59767	0.986	P	0.48901	0.594	T	0.51490	-0.8699	10	0.72032	D	0.01	.	11.6421	0.51240	0.0:0.9181:0.0:0.0819	.	234	Q8N5C6	SRBD1_HUMAN	H	234	ENSP00000263736:R234H	ENSP00000263736:R234H	R	-	2	0	SRBD1	45666365	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.261000	0.32980	2.615000	0.88500	0.557000	0.71058	CGT		0.323	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		31	81	0	0	0	1	0	31	81					T	45812861	C	T	45812861	3	4	311	1	0	0	0	0	1	0	0	0	15132	536	19	1	2354	1	SRBD1	2	45812861	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16572045	45812861	197386512	89	31163											
EPAS1	2034	broad.mit.edu	37	chr2	46574124	46574124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcctctgccccacagtGtgagctcccatctggacaag	10	15	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	ENST00000263734.3	+	2	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)			GCCCCACAGTGTGAGCTCCCA	0.617																																						ENST00000263734.3																			0				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						c.(139-141)Gtg>Atg		endothelial PAS domain protein 1							125	114	118					2																	46574124		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46574124G>A	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.139G>A	2.37:g.46574124G>A	ENSP00000263734:p.Val47Met					EPAS1_ENST00000467888.1_3'UTR	p.V47M	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	649	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	47			Helix-loop-helix motif.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.139G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141278	0.57044	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.22336	1.96;1.96	4.86	3.99	0.46301	Helix-loop-helix DNA-binding (3);	0.221447	0.39146	N	0.001446	T	0.41971	0.1182	M	0.81239	2.535	0.45747	D	0.998648	D	0.62365	0.991	D	0.63877	0.919	T	0.37126	-0.9719	10	0.87932	D	0	.	7.7205	0.28729	0.304:0.0:0.696:0.0	.	47	Q99814	EPAS1_HUMAN	M	47	ENSP00000406137:V47M;ENSP00000263734:V47M	ENSP00000263734:V47M	V	+	1	0	EPAS1	46427628	0.998000	0.40836	0.984000	0.44739	0.984000	0.73092	2.762000	0.47597	1.276000	0.44395	0.561000	0.74099	GTG		0.617	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		13	214	0	0	0	1	0	13	214					A	46574124	G	A	46574124	3	1	311	1	0	0	0	0	1	0	0	0	5150	1377	48	2	145	2	EPAS1	2	46574124	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	761263	46574124	196625249	90	31164											
VPS54	51542	broad.mit.edu	37	chr2	64199337	64199339	+	In_Frame_Del	DEL	AGG	AGG	-													gtcctttcgaaggtatctttAggaggacaaatattcttgca					rs377413431		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	ENST00000272322.4	-	4	572_574	c.418_420delCCT	c.(418-420)cctdel	p.P140del	VPS54_ENST00000354504.3_In_Frame_Del_p.P23del|VPS54_ENST00000409558.4_In_Frame_Del_p.P128del			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	140					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.P140T(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286																																						ENST00000354504.3																			1	Substitution - Missense(1)	p.P140T(1)	ovary(1)	endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(67-69)del		vacuolar protein sorting 54 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64199337_64199339delAGG	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.418_420delCCT	2.37:g.64199340_64199342delAGG	ENSP00000272322:p.Pro140del					VPS54_ENST00000409558.3_In_Frame_Del_p.P128del|VPS54_ENST00000272322.4_In_Frame_Del_p.P140del	p.P23del			Q9P1Q0	VPS54_HUMAN			2	656_658	-			140					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	In_Frame_Del	DEL	ENST00000272322.4	37	c.67_69delCCT	CCDS33208.1																																																																																				0.286	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		14	47						14	47	---	---	---	---	-	64199339	AGG	-	64199337	7	5	311	1	0	1	0	1	0	0	0	0	17213	407	15	0	2593	0	VPS54	2	64199337	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	17625213	64199337	179000036	91	31165											
CLEC4F	165530	broad.mit.edu	37	chr2	71043766	71043766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatagatctcagcattagcGttctttaaactgctattggc	7	9	2	1	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	ENST00000272367.2	-	4	823	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_ENST00000426626.1_Silent_p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	249					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(745-747)aaC>aaT		C-type lectin domain family 4, member F		A		2,4404	4.2+/-10.8	0,2,2201	80	78	79		747	-2.5	0	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	CLEC4F	NM_173535.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		249/590	71043766	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043766G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.747C>T	2.37:g.71043766G>A						CLEC4F_ENST00000426626.1_Silent_p.N249N	p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	823	-			249					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.747C>T	CCDS1910.1																																																																																				0.418	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		31	88	0	0	0	1	0	31	88					A	71043766	G	A	71043766	2	1	311	1	0	0	0	0	0	0	0	1	3516	1136	40	1		1	CLEC4F	2	71043766	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6844429	71043766	172155607	92	31166											
DYSF	8291	broad.mit.edu	37	chr2	71753455	71753455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgcctgaaggtcttcCgggccgaggacttgccgcag	13	13	2	1	rs527435707		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	ENST00000258104.3	+	12	1436	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W|DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	387	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.		FRAED -> Y (in MMD1). {ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		11718	0.0		0.0	False		,,,				2504	0.001					ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1159-1161)Cgg>Tgg		dysferlin							91	101	97					2																	71753455		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71753455C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1159C>T	2.37:g.71753455C>T	ENSP00000258104:p.Arg387Trp					DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W|DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W	p.R387W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			12	1436	+			387		FRAED -> Y (in MMD1).	C2 3.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1159C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198088	0.58126	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.47	-6.83	0.01693	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052440	0.64402	D	0.000001	D	0.89480	0.6727	M	0.89601	3.045	0.45837	D	0.998704	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.997;0.999;0.998;0.999;0.997;0.998;0.999;0.997;0.997;0.998;0.999	D;D;D;P;D;D;D;D;D;D;D;P;D;D	0.75020	0.91;0.91;0.91;0.858;0.985;0.98;0.985;0.97;0.91;0.98;0.91;0.858;0.91;0.946	D	0.90351	0.4366	10	0.87932	D	0	-19.0539	19.8974	0.96972	0.2817:0.7183:0.0:0.0	.	419;419;388;388;419;388;418;387;418;418;387;387;388;387	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	418;418;418;387;387;419;388;388;388;419;419	ENSP00000407046:R418W;ENSP00000387137:R418W;ENSP00000386547:R418W;ENSP00000398305:R387W;ENSP00000258104:R387W;ENSP00000386683:R419W;ENSP00000377678:R388W;ENSP00000386285:R388W;ENSP00000386512:R388W;ENSP00000386881:R419W;ENSP00000386617:R419W	ENSP00000258104:R387W	R	+	1	2	DYSF	71606963	0.994000	0.37717	0.903000	0.35520	0.211000	0.24417	0.422000	0.21296	-0.835000	0.04234	-0.188000	0.12872	CGG		0.672	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		83	246	0	0	0	1	0	83	246					T	71753455	C	T	71753455	3	4	311	1	0	0	0	0	1	0	0	0	4859	643	23	1	1397	1	DYSF	2	71753455	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	709689	71753455	171445918	93	31167											
CYP26B1	56603	broad.mit.edu	37	chr2	72359683	72359683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttcacgtctttgaacacGggcgctgtgtcatgggtgtc	13	10	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1210-1212)ccC>ccT		cytochrome P450, family 26, subfamily B, polypeptide 1							42	38	39					2																	72359683		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359683G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1212C>T	2.37:g.72359683G>A						CYP26B1_ENST00000546307.1_Silent_p.P329P|CYP26B1_ENST00000412253.1_Silent_p.P213P	p.P404P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1415	-			404					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.1212C>T	CCDS1919.1																																																																																				0.612	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		23	37	0	0	0	1	0	23	37					A	72359683	G	A	72359683	2	1	311	1	0	0	0	0	0	0	0	1	4156	1103	39	1		1	CYP26B1	2	72359683	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	606228	72359683	170839690	94	31168											
ALMS1	7840	broad.mit.edu	37	chr2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaaaatcagcaaaggtcttCgaatgccattcgatgaaaag	8	8	3	1	rs549857076		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	ENST00000264448.6	+	10	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2668					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						CAAAGGTCTTCGAATGCCATT	0.378																																						ENST00000264448.6																			0				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						c.(8002-8004)Cga>Tga		Alstrom syndrome 1							125	117	119					2																	73717091		1838	4082	5920	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717091C>T	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.8002C>T	2.37:g.73717091C>T	ENSP00000264448:p.Arg2668*					ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	p.R2668*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8113	+			2668					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.8002C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	36	5.924769	0.97110	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.45	3.53	0.40419	.	0.623002	0.13512	N	0.382420	.	.	.	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.282	0.43545	0.0:0.7074:0.2926:0.0	.	.	.	.	X	2626;2668	.	ENSP00000264448:R2668X	R	+	1	2	ALMS1	73570599	0.914000	0.31030	0.666000	0.29783	0.462000	0.32619	1.201000	0.32259	1.324000	0.45282	0.650000	0.86243	CGA		0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		95	176	0	0	0	1	0	95	176					T	73717091	C	T	73717091	4	4	311	1	0	0	0	0	0	1	0	0	535	876	31	1	8040	1	ALMS1	2	73717091	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1357408	73717091	169482282	95	31169											
DCTN1	1639	broad.mit.edu	37	chr2	74595114	74595114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgctcatagcggtgtaGcgtggcctgcagcaggctca	13	11	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	ENST00000361874.3	-	17	2316	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000409240.1_Silent_p.L630L|DCTN1_ENST00000409438.1_Silent_p.L533L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	667					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						TAGCGGTGTAGCGTGGCCTGC	0.607																																						ENST00000361874.3																			0				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						c.(1999-2001)Cta>Tta		dynactin 1							58	55	56					2																	74595114		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595114G>A		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.1999C>T	2.37:g.74595114G>A						DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Silent_p.L630L|DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409438.1_Silent_p.L533L	p.L667L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			17	2316	-			667					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.1999C>T	CCDS1939.1																																																																																				0.607	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		25	94	0	0	0	1	0	25	94					A	74595114	G	A	74595114	2	1	311	1	0	0	0	0	0	0	0	1	4306	962	34	2		2	DCTN1	2	74595114	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	878023	74595114	168604259	96	31170											
TLX2	3196	broad.mit.edu	37	chr2	74742798	74742798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacgcgccgcataggcCacccctaccaaaaccggacc	10	18	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	ENST00000233638.7	+	2	762	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	147					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(439-441)Cac>Aac		T-cell leukemia homeobox 2							54	62	59					2																	74742798		2203	4300	6503	SO:0001583	missense	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742798C>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"Homeoboxes / ANTP class : NKL subclass"	5057	protein-coding gene	gene with protein product		604240	"homeo box 11-like 1", "T-cell leukemia, homeobox 2"	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.439C>A	2.37:g.74742798C>A	ENSP00000233638:p.His147Asn						p.H147N	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	762	+			147					Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	c.439C>A	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158807	0.57368	.	.	ENSG00000115297	ENST00000233638	D	0.95518	-3.73	4.29	3.41	0.39046	Homeodomain-like (1);	0.221231	0.29609	N	0.011675	D	0.93667	0.7977	M	0.78049	2.395	0.45139	D	0.998155	B	0.32526	0.374	B	0.30716	0.119	D	0.90928	0.4788	10	0.28530	T	0.3	.	11.2182	0.48838	0.1847:0.8153:0.0:0.0	.	147	O43763	TLX2_HUMAN	N	147	ENSP00000233638:H147N	ENSP00000233638:H147N	H	+	1	0	TLX2	74596306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.814000	0.69208	1.006000	0.39211	0.655000	0.94253	CAC		0.652	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			36	116	1	0	4.14481e-20	1	4.26872e-20	36	116					A	74742798	C	A	74742798	3	1	311	1	0	0	0	0	1	0	0	0	15958	594	21	4	445	4	TLX2	2	74742798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	147684	74742798	168456575	97	31171											
HK2	3099	broad.mit.edu	37	chr2	75107689	75107689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtgtgtgctaccccggaCggcacaggtacacggcaggg	15	12	0	0	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	ENST00000290573.2	+	10	2163	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	HK2_ENST00000409174.1_Silent_p.D493D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	521	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)			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						CTACCCCGGACGGCACAGGTA	0.577																																						ENST00000290573.2																			0				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						c.(1561-1563)gaC>gaT		hexokinase 2		C		1,4405	2.1+/-5.4	0,1,2202	50	49	49		1563	-0.3	1	2	dbSNP_134	49	1,8599		0,1,4299	no	coding-synonymous	HK2	NM_000189.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		521/918	75107689	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107689C>T		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.1563C>T	2.37:g.75107689C>T						HK2_ENST00000409174.1_Silent_p.D493D	p.D521D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			10	2163	+			521			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Silent	SNP	ENST00000290573.2	37	c.1563C>T	CCDS1956.1																																																																																				0.577	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		9	31	0	0	0	1	0	9	31					T	75107689	C	T	75107689	2	4	311	1	0	0	0	0	0	0	0	1	7191	535	19	1		1	HK2	2	75107689	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	364891	75107689	168091684	98	31172											
TCF7L1	83439	broad.mit.edu	37	chr2	85531438	85531438	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcacccttaccccgccctCgccatgaacgcctcgatgtc	8	20	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	ENST00000282111.3	+	7	1097	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	274	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(820-822)ctC>ctT		transcription factor 7-like 1 (T-cell specific, HMG-box)							103	93	97					2																	85531438		2203	4300	6503	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85531438C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.822C>T	2.37:g.85531438C>T							p.L274L	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			7	1097	+			274			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.822C>T	CCDS1971.1																																																																																				0.592	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		67	73	0	0	0	1	0	67	73					T	85531438	C	T	85531438	2	4	311	1	0	0	0	0	0	0	0	1	15694	871	31	1		1	TCF7L1	2	85531438	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10423749	85531438	157667935	99	31173											
SMYD1	150572	broad.mit.edu	37	chr2	88387390	88387390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccacaggctggcggcGcgcatcatgtggcgggtgga	16	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(322-324)gcG>gcA		SET and MYND domain containing 1							27	25	26					2																	88387390		2198	4297	6495	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387390G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.324G>A	2.37:g.88387390G>A						SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Silent_p.A108A	p.A108A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	409	+			108					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.324G>A	CCDS33240.1																																																																																				0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		14	18	0	0	0	1	0	14	18					A	88387390	G	A	88387390	2	1	311	1	0	0	0	0	0	0	0	1	14821	1074	38	1		1	SMYD1	2	88387390	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2855952	88387390	154811983	100	31174											
FAHD2B	151313	broad.mit.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-													tcctgaatacaccgacacctGggggggtcccagttaggatg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(841-843)cafs		fumarylacetoacetate hydrolase domain containing 2B							29	31	30					2																	97749725		2203	4297	6500	SO:0001589	frameshift_variant	151313						hydrolase activity|metal ion binding	g.chr2:97749725delG		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.842delC	2.37:g.97749725delG	ENSP00000410470:p.Pro281fs					FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs	p.P281fs			Q6P2I3	FAH2B_HUMAN			8	1112	-			281					D3DXH7|Q8NDK1	Frame_Shift_Del	DEL	ENST00000414820.1	37	c.842delC	CCDS2030.1																																																																																				0.552	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		16	52						16	52	---	---	---	---	-	97749725	G	-	97749725	7	5	311	1	0	1	0	1	0	0	0	0	5374	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	9362335	97749725	145449648	101	31175											
REV1	51455	broad.mit.edu	37	chr2	100022891	100022891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgactgaactgatgggCgactgggacatgtggaaggg	18	6	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	ENST00000258428.3	-	16	2738	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_ENST00000393445.3_Missense_Mutation_p.R836H|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	837					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						AACTGATGGGCGACTGGGACA	0.453								Direct reversal of damage																														ENST00000258428.3																			0				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						c.(2509-2511)cGc>cAc	Direct reversal of damage	REV1, polymerase (DNA directed)							115	111	113					2																	100022891		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100022891C>T	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.2510G>A	2.37:g.100022891C>T	ENSP00000258428:p.Arg837His					REV1_ENST00000393445.3_Missense_Mutation_p.R836H|REV1_ENST00000465835.1_5'UTR	p.R837H	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			16	2738	-			837					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2510G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241806	0.22711	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.27256	1.68;1.68	5.88	-0.93	0.10441	.	0.766070	0.12832	N	0.435552	T	0.08447	0.0210	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.30679	-0.9970	10	0.35671	T	0.21	.	6.8714	0.24123	0.1176:0.3247:0.0:0.5576	.	837;836	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	H	836;837	ENSP00000377091:R836H;ENSP00000258428:R837H	ENSP00000258428:R837H	R	-	2	0	REV1	99389323	0.004000	0.15560	0.001000	0.08648	0.911000	0.54048	-0.886000	0.04157	-0.116000	0.11893	0.655000	0.94253	CGC		0.453	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		22	41	0	0	0	1	0	22	41					T	100022891	C	T	100022891	3	4	311	1	0	0	0	0	1	0	0	0	13239	768	27	1	1277	1	REV1	2	100022891	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2273166	100022891	143176482	102	31176											
IL18R1	8809	broad.mit.edu	37	chr2	103013337	103013337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcttgcctgttctttcCgagtcttaatcttcagaaac	7	10	5	1	rs367837052		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	ENST00000409599.1	+	12	1973	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_ENST00000233957.1_Silent_p.S539S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	539					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1615-1617)tcC>tcT		interleukin 18 receptor 1		C		0,4404		0,0,2202	32	34	33		1617	-1.2	0	2		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL18R1	NM_003855.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		539/542	103013337	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013337C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1617C>T	2.37:g.103013337C>T						IL18R1_ENST00000233957.1_Silent_p.S539S	p.S539S			Q13478	IL18R_HUMAN			12	1973	+			539					B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1617C>T	CCDS2060.1																																																																																				0.413	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		20	42	0	0	0	1	0	20	42					T	103013337	C	T	103013337	2	4	311	1	0	0	0	0	0	0	0	1	7647	639	23	1		1	IL18R1	2	103013337	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2990446	103013337	140186036	103	31177											
RANBP2	5903	broad.mit.edu	37	chr2	109383056	109383056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccagtagttcaaatgcccGaaaaagtagaacttgtaaca	7	8	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	ENST00000283195.6	+	20	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2021	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						TCAAATGCCCGAAAAAGTAGA	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(6061-6063)Gaa>Aaa		RAN binding protein 2							162	190	181					2																	109383056		2201	4296	6497	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383056G>A	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.6061G>A	2.37:g.109383056G>A	ENSP00000283195:p.Glu2021Lys						p.E2021K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6187	+			2021			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6061G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244874	0.79912	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.31247	1.5	5.75	5.75	0.90469	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.47229	0.1434	M	0.63843	1.955	0.48395	D	0.99964	D	0.71674	0.998	P	0.52793	0.709	T	0.35151	-0.9800	9	0.48119	T	0.1	-38.6669	19.9535	0.97211	0.0:0.0:1.0:0.0	.	2021	P49792	RBP2_HUMAN	K	1045;2021	ENSP00000283195:E2021K	ENSP00000283195:E2021K	E	+	1	0	RANBP2	108749488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.864000	0.99589	2.710000	0.92621	0.557000	0.71058	GAA		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		325	373	0	0	0	1	0	325	373					A	109383056	G	A	109383056	3	1	311	1	0	0	0	0	1	0	0	0	13028	1059	37	1	6139	1	RANBP2	2	109383056	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6369719	109383056	133816317	104	31178											
POLR1B	84172	broad.mit.edu	37	chr2	113322007	113322007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccctgtcctgctggaCggtgtcatggttggctgggt	15	10	1	0	rs189967507	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	ENST00000263331.5	+	10	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000541869.1_Silent_p.D597D|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.D348D	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	559					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)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20783	0.0		0.0	False		,,,				2504	0.0				Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1675-1677)gaC>gaT		polymerase (RNA) I polypeptide B, 128kDa							251	216	228					2																	113322007		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113322007C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1677C>T	2.37:g.113322007C>T						POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000537335.1_Silent_p.D348D|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Silent_p.D597D	p.D559D	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			10	2257	+			559					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.1677C>T	CCDS2097.1																																																																																				0.502	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		74	135	0	0	0	1	0	74	135					T	113322007	C	T	113322007	2	4	311	1	0	0	0	0	0	0	0	1	12210	535	19	1		1	POLR1B	2	113322007	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3938951	113322007	129877366	105	31179											
EN1	2019	broad.mit.edu	37	chr2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-													gccgcttgtcctccttctcgTtcttcttcttcttcagcttc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	ENST00000295206.6	-	2	1404_1406	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	298					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.68																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(892-897)aac>aa		engrailed homeobox 1				30,4196		1,28,2084						3.8	1			19	68,8142		2,64,4039	no	coding	EN1	NM_001426.3		3,92,6123	A1A1,A1R,RR		0.8283,0.7099,0.788				98,12338				SO:0001651	inframe_deletion	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600797_119600799delTTC	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.894_896delGAA	2.37:g.119600806_119600808delTTC	ENSP00000295206:p.Lys298del						p.KN298del	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			2	1404_1406	-			298					Q4ZG44	In_Frame_Del	DEL	ENST00000295206.6	37	c.894_896delGAA	CCDS2123.1																																																																																				0.68	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			6	11						6	11	---	---	---	---	-	119600799	TTC	-	119600797	7	5	311	1	0	1	0	1	0	0	0	0	5109	1725	60	0	286	0	EN1	2	119600797	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	6278790	119600797	123598576	106	31180											
TMEM177	80775	broad.mit.edu	37	chr2	120439264	120439264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacacccagcgggaacatcGtccccagacacttgttccga	8	15	0	1	rs562270009		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	ENST00000424086.1	+	2	1308	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	279						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0					ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(835-837)Gtc>Atc		transmembrane protein 177							64	62	63					2																	120439264		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120439264G>A	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.835G>A	2.37:g.120439264G>A	ENSP00000402661:p.Val279Ile					TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I|TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I	p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN			2	1308	+	Colorectal(110;0.196)		279					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.835G>A	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	3.709	-0.059898	0.07317	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521	T;T;T	0.40756	1.02;1.02;1.02	4.84	-8.14	0.01069	.	0.448817	0.25324	N	0.031483	T	0.17066	0.0410	N	0.21583	0.68	0.09310	N	0.999993	B	0.10296	0.003	B	0.09377	0.004	T	0.19549	-1.0302	10	0.16420	T	0.52	-6.89	6.2698	0.20949	0.5263:0.0:0.3173:0.1564	.	279	Q53S58	TM177_HUMAN	I	279	ENSP00000385966:V279I;ENSP00000402661:V279I;ENSP00000272521:V279I	ENSP00000272521:V279I	V	+	1	0	TMEM177	120155734	0.770000	0.28543	0.001000	0.08648	0.327000	0.28475	0.158000	0.16422	-0.988000	0.03489	-1.079000	0.02226	GTC		0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		95	95	0	0	0	1	0	95	95					A	120439264	G	A	120439264	3	1	311	1	0	0	0	0	1	0	0	0	16091	1145	40	1	837	1	TMEM177	2	120439264	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	838467	120439264	122760109	107	31181											
POTEF	728378	broad.mit.edu	37	chr2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-													cctttatcagagctgtcctcTttttgttgtcaaggacatta							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	ENST00000409914.2	-	4	1016	c.617delA	c.(616-618)aagfs	p.K206fs	POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000357462.5_Frame_Shift_Del_p.K206fs	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K206R(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						AGCTGTCCTCTTTTTGTTGTC	0.403																																						ENST00000357462.5																			2	Substitution - Missense(2)	p.K206R(2)	lung(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						c.(616-618)agfs		POTE ankyrin domain family, member F							12	14	13					2																	130872806		1993	3901	5894	SO:0001589	frameshift_variant	728378					cell cortex	ATP binding	g.chr2:130872806delT	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.617delA	2.37:g.130872806delT	ENSP00000386786:p.Lys206fs					POTEF_ENST00000409914.2_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs	p.K206fs			A5A3E0	POTEF_HUMAN			2	710	-			206					A6NC34	Frame_Shift_Del	DEL	ENST00000409914.2	37	c.617delA	CCDS46409.1																																																																																				0.403	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		28	86						28	86	---	---	---	---	-	130872806	T	-	130872806	7	5	311	1	0	1	0	1	0	0	0	0	12265	1609	56	0	2666	0	POTEF	2	130872806	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	10433542	130872806	112326567	108	31182											
POTEE	445582	broad.mit.edu	37	chr2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A													tggaggatattgaaagtgtgINSaaaaaaaagaatgataatct					rs200735283	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	684					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTGAAAGTGTGAAAAAAAAGAA	0.416																																						ENST00000356920.5																			0											c.(2047-2052)gtaaaafs		POTE ankyrin domain family, member E																																				SO:0001589	frameshift_variant	445582						ATP binding	g.chr2:132021077_132021078insA	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.2057dupA	2.37:g.132021085_132021085dupA	ENSP00000439189:p.Lys684fs					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.VK683fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2143_2144	+			683					Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	c.2049_2050insA	CCDS46414.1																																																																																				0.416	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	24						14	24	---	---	---	---	A	132021078	-	A	132021077	7	5	311	1	0	1	1	0	0	0	0	0	12264	1277	45	0	2107	0	POTEE	2	132021077	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1148271	132021077	111178296	109	31183											
R3HDM1	23518	broad.mit.edu	37	chr2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaagatccggtggctcCgggacccccagtcccaacca	11	18	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	ENST00000264160.4	+	26	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(3055-3057)Cgg>Tgg		R3H domain containing 1							66	74	71					2																	136481617		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136481617C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.3055C>T	2.37:g.136481617C>T	ENSP00000264160:p.Arg1019Trp					R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W	p.R1019W	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	26	3425	+			1019					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.3055C>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.17|17.17	3.320227|3.320227	0.60634|0.60634	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|T;T;T;T;T	.|0.33654	.|1.41;1.41;1.41;1.4;1.41	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.153805	.|0.44097	.|D	.|0.000485	T|T	0.55689|0.55689	0.1936|0.1936	L|L	0.60455|0.60455	1.87|1.87	0.39847|0.39847	D|D	0.973199|0.973199	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.76575	.|0.985;0.928;0.976;0.988	T|T	0.58370|0.58370	-0.7648|-0.7648	5|10	.|0.87932	.|D	.|0	-13.4887|-13.4887	13.8153|13.8153	0.63287|0.63287	0.2535:0.7465:0.0:0.0|0.2535:0.7465:0.0:0.0	.|.	.|891;1020;964;1019	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	L|W	742|891;1019;890;964;1020	.|ENSP00000386457:R891W;ENSP00000264160:R1019W;ENSP00000331396:R890W;ENSP00000386877:R964W;ENSP00000387010:R1020W	.|ENSP00000264160:R1019W	P|R	+|+	2|1	0|2	R3HDM1|R3HDM1	136198087|136198087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.553000|2.553000	0.45837|0.45837	2.767000|2.767000	0.95098|0.95098	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.542	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		93	80	0	0	0	1	0	93	80					T	136481617	C	T	136481617	3	4	311	1	0	0	0	0	1	0	0	0	12887	643	23	1	3149	1	R3HDM1	2	136481617	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4460540	136481617	106717756	110	31184											
LRP1B	53353	broad.mit.edu	37	chr2	141816539	141816539	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcagtcccattaaatcGgtttatccttacgatattgt	5	8	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	ENST00000389484.3	-	9	2292	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					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)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(1321-1323)Cga>Tga		low density lipoprotein receptor-related protein 1B							102	105	104					2																	141816539		2203	4299	6502	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816539G>A	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.1321C>T	2.37:g.141816539G>A	ENSP00000374135:p.Arg441*	TSP Lung(27;0.18)					p.R441*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	9	2292	-		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)	441					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.1321C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	46	12.902896	0.99705	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.7	2.14	0.27477	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.2655	0.82577	0.0:0.0:0.6327:0.3673	.	.	.	.	X	441;379	.	ENSP00000374135:R441X	R	-	1	2	LRP1B	141533009	1.000000	0.71417	0.954000	0.39281	0.884000	0.51177	1.208000	0.32345	0.549000	0.28973	0.462000	0.41574	CGA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	89	0	0	0	1	0	7	89					A	141816539	G	A	141816539	4	1	311	1	0	0	0	0	0	1	0	0	8955	1124	39	1	12810	1	LRP1B	2	141816539	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5334922	141816539	101382834	111	31185											
LRP2	4036	broad.mit.edu	37	chr2	170022532	170022532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgattgttgtcacaccGgaaacggtttggtgaattac	12	8	1	1	rs373179621		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	ENST00000263816.3	-	62	11953	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3890	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	TTGTCACACCGGAAACGGTTT	0.388																																						ENST00000263816.3																			0				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						c.(11668-11670)Cgg>Tgg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	TRP/ARG	0,4406		0,0,2203	179	166	170		11668	6.1	1	2		170	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3890/4656	170022532	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170022532G>A		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.11668C>T	2.37:g.170022532G>A	ENSP00000263816:p.Arg3890Trp						p.R3890W	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	62	11953	-			3890			LDL-receptor class A 35.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11668C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630602	0.96682	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96334	-3.98	6.06	6.06	0.98353	.	0.057142	0.64402	D	0.000001	D	0.98381	0.9462	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98537	1.0630	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	3890	P98164	LRP2_HUMAN	W	3890	ENSP00000263816:R3890W	ENSP00000263816:R3890W	R	-	1	2	LRP2	169730778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.954000	0.87848	2.880000	0.98712	0.650000	0.86243	CGG		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		88	104	0	0	0	1	0	88	104					A	170022532	G	A	170022532	3	1	311	1	0	0	0	0	1	0	0	0	8956	1115	39	1	2371	1	LRP2	2	170022532	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28205993	170022532	73176841	112	31186											
LRP2	4036	broad.mit.edu	37	chr2	170060607	170060607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggagagcaaatttgtGgtcattgcaatctgacctga	13	7	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	ENST00000263816.3	-	42	8175	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2630					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)"	GCAAATTTGTGGTCATTGCAA	0.448																																						ENST00000263816.3																			0				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						c.(7888-7890)acC>acT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						205	210	208					2																	170060607		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170060607G>A		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.7890C>T	2.37:g.170060607G>A							p.T2630T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	42	8175	-			2630					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7890C>T	CCDS2232.1																																																																																				0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		69	294	0	0	0	1	0	69	294					A	170060607	G	A	170060607	2	1	311	1	0	0	0	0	0	0	0	1	8956	1335	47	2		2	LRP2	2	170060607	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	38075	170060607	73138766	113	31187											
C2orf77	129881	broad.mit.edu	37	chr2	170502600	170502603	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													tctctggcatagtcctgaaaTtctttctccttttcagccac					rs528660254		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170502600_170502603delTTCT	ENST00000447353.1	-	9	1512_1515	c.1407_1410delAGAA	c.(1405-1410)aaagaafs	p.KE469fs		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	469																	AGTCCTGAAATTCTTTCTCCTTTT	0.373																																						ENST00000447353.1																			0											c.(1405-1410)aafs		coiled-coil domain containing 173				4,3566		2,0,1783						5.7	1			220	38,7788		18,2,3893	no	frameshift	C2orf77	NM_001085447.1		20,2,5676	A1A1,A1R,RR		0.4856,0.112,0.3686				42,11354				SO:0001589	frameshift_variant	129881							g.chr2:170502600_170502603delTTCT	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1407_1410delAGAA	2.37:g.170502604_170502607delTTCT	ENSP00000391504:p.Lys469fs						p.KE469fs	NM_001085447.1	NP_001078916.1					9	1512_1515	-								Q6PJF6	Frame_Shift_Del	DEL	ENST00000447353.1	37	c.1407_1410delAGAA	CCDS46445.1																																																																																				0.373	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		38	352						38	352	---	---	---	---	-	170502603	TTCT	-	170502600	7	5	311	1	0	1	0	1	0	0	0	0	2194	1490	52	0	252	0	C2orf77	2	170502600	Frame_Shift_Del	DEL	TTCT	TCGA-HT-8564-01A-11D-2395-08	441993	170502600	72696773	114	31188											
TTN	7273	broad.mit.edu	37	chr2	179412628	179412628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttactttgggggcaggaCgaccactgattggtacgtca	13	8	1	1	rs369899675		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	ENST00000591111.1	-	289	89026	c.88802G>A	c.(88801-88803)cGt>cAt	p.R29601H	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31242H|TTN_ENST00000342992.6_Missense_Mutation_p.R28674H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H			Q8WZ42	TITIN_HUMAN	titin	29601	Ig-like 135.				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)			GGGGGCAGGACGACCACTGAT	0.448																																						ENST00000589042.1																			0				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						c.(93724-93726)cGt>cAt		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3988		0,0,1994	95	87	90		66530,86021,66905,67106	5.9	1	2		90	1,8311		0,1,4155	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6149	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	22177/26927,28674/33424,22302/27052,22369/27119	179412628	1,12299	1994	4156	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412628C>T	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.88802G>A	2.37:g.179412628C>T	ENSP00000465570:p.Arg29601His					TTN_ENST00000342992.6_Missense_Mutation_p.R28674H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29601H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R31242H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93949	-			29601			Fibronectin type-III 127.		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	ENST00000591111.1	37	c.93725G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.048095	0.75846	0.0	1.2E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80529	0.4640	L	0.55834	1.745	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;0.999;0.999	T	0.80598	-0.1311	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	22177;22302;22369;29601	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28674;22177;22369;22302;22174	ENSP00000343764:R28674H;ENSP00000434586:R22177H;ENSP00000340554:R22369H;ENSP00000352154:R22302H	ENSP00000340554:R22369H	R	-	2	0	TTN	179120874	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.818000	0.86416	2.795000	0.96236	0.655000	0.94253	CGT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	47	0	0	0	1	0	26	47					T	179412628	C	T	179412628	3	4	311	1	0	0	0	0	1	0	0	0	16732	536	19	1	14350	1	TTN	2	179412628	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8910028	179412628	63786745	115	31189											
TTN	7273	broad.mit.edu	37	chr2	179430304	179430304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcattataagccttgacaCggaactgatattcttgtcca	6	10	2	2	rs202149931|rs397517716		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	ENST00000591111.1	-	276	75856	c.75632G>A	c.(75631-75633)cGt>cAt	p.R25211H	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26852H|TTN_ENST00000342992.6_Missense_Mutation_p.R24284H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H			Q8WZ42	TITIN_HUMAN	titin	25211	Fibronectin type-III 83. {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)			AGCCTTGACACGGAACTGATA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22005	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(80554-80556)cGt>cAt		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3760		0,2,1879	190	188	189		53936,53735,72851,53360	3.7	1	2		189	1,8237		0,1,4118	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,5997	TT,TC,CC		0.0121,0.0532,0.025	benign,benign,benign,benign	17979/27119,17912/27052,24284/33424,17787/26927	179430304	3,11997	1881	4119	6000	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430304C>T	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.75632G>A	2.37:g.179430304C>T	ENSP00000465570:p.Arg25211His					TTN_ENST00000342992.6_Missense_Mutation_p.R24284H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25211H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R26852H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80779	-			25211			Fibronectin type-III 95.		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	ENST00000591111.1	37	c.80555G>A		.	.	.	.	.	.	.	.	.	.	C	10.81	1.454795	0.26161	5.32E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.48	3.65	0.41850	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67258	0.2874	H	0.96142	3.775	0.48696	D	0.999696	B;B;B;B	0.29909	0.261;0.261;0.261;0.261	B;B;B;B	0.20184	0.028;0.028;0.028;0.028	T	0.76334	-0.2997	9	0.87932	D	0	.	12.1629	0.54113	0.0:0.8355:0.0:0.1645	.	17787;17912;17979;25211	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24284;17787;17979;17912;17785	ENSP00000343764:R24284H;ENSP00000434586:R17787H;ENSP00000340554:R17979H;ENSP00000352154:R17912H	ENSP00000340554:R17979H	R	-	2	0	TTN	179138550	0.893000	0.30496	1.000000	0.80357	0.631000	0.37964	1.834000	0.39171	2.589000	0.87451	0.484000	0.47621	CGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	193	0	0	0	1	0	74	193					T	179430304	C	T	179430304	3	4	311	1	0	0	0	0	1	0	0	0	16732	536	19	1	27572	1	TTN	2	179430304	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	17676	179430304	63769069	116	31190											
TTN	7273	broad.mit.edu	37	chr2	179598102	179598102	+	Frame_Shift_Del	DEL	T	T	-													tttttaaaacttattcggtaTtttttactggcgaccaaggg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	ENST00000591111.1	-	52	15191	c.14967delA	c.(14965-14967)aaafs	p.K4989fs	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K5306fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12368	Ig-like 30.				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)			TTATTCGGTATTTTTTACTGG	0.468																																						ENST00000589042.1																			0				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						c.(15916-15918)aafs		titin							99	98	98					2																	179598102		1845	4099	5944	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598102delT	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.14967delA	2.37:g.179598102delT	ENSP00000465570:p.Lys4989fs					TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K4989fs	p.K5306fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	16142	-			4989			Ig-like 33.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.15918delA																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		86	109						86	109	---	---	---	---	-	179598102	T	-	179598102	7	5	311	1	0	1	0	1	0	0	0	0	16732	1490	52	0	88847	0	TTN	2	179598102	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	167798	179598102	63601271	117	31191											
TTN	7273	broad.mit.edu	37	chr2	179604439	179604439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaacctgaaaaagaatcCatttcttcttgcaaacttgt	6	8	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179604439C>A	ENST00000591111.1	-	46	12794	c.12570G>T	c.(12568-12570)atG>atT	p.M4190I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M4507I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I			Q8WZ42	TITIN_HUMAN	titin	0					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)			AAAAAGAATCCATTTCTTCTT	0.388																																						ENST00000589042.1																			0				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						c.(13519-13521)atG>atT		titin							159	158	159					2																	179604439		1847	4095	5942	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604439C>A	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.12570G>T	2.37:g.179604439C>A	ENSP00000465570:p.Met4190Ile					TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M4190I	p.M4507I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13745	-			4190			Ig-like 25.		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	ENST00000591111.1	37	c.13521G>T		.	.	.	.	.	.	.	.	.	.	C	1.447	-0.565968	0.03910	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59772	0.3;0.25;0.24	5.11	-2.04	0.07343	.	.	.	.	.	T	0.40119	0.1104	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40813	-0.9543	9	0.87932	D	0	.	0.9884	0.01451	0.3735:0.1621:0.1037:0.3607	.	4144;4269;4336	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4144;4336;4269;4144	ENSP00000434586:M4144I;ENSP00000340554:M4336I;ENSP00000352154:M4269I	ENSP00000340554:M4336I	M	-	3	0	TTN	179312684	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	-0.580000	0.05827	-0.035000	0.13691	-0.152000	0.13540	ATG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	212	1	0	2.85442e-18	1	2.93536e-18	31	212					A	179604439	C	A	179604439	3	1	311	1	0	0	0	0	1	0	0	0	16732	594	21	4	91268	4	TTN	2	179604439	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6337	179604439	63594934	118	31192											
HECW2	57520	broad.mit.edu	37	chr2	197183524	197183524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgcacacggattcctgcGacccttcggcagggccactg	12	15	0	0	rs139251909	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	ENST00000260983.3	-	9	2272	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612													G|||	4	0.000798722	0.0023	0.0	5008	,	,		20920	0.0		0.0	False		,,,				2504	0.001					ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2089-2091)tCg>tTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		G	LEU/SER	7,4399	12.9+/-30.5	0,7,2196	35	37	36		2090	3.9	0	2	dbSNP_134	36	0,8600		0,0,4300	yes	missense	HECW2	NM_020760.1	145	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	697/1573	197183524	7,12999	2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183524G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2090C>T	2.37:g.197183524G>A	ENSP00000260983:p.Ser697Leu					HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	p.S697L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2272	-			697					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2090C>T	CCDS33354.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.861	0.726029	0.15439	0.001589	0.0	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32753	1.45;1.44	4.82	3.9	0.45041	.	3.712340	0.01136	N	0.006091	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.15052	0.012	T	0.14839	-1.0458	10	0.22706	T	0.39	.	15.2642	0.73649	0.0:0.1399:0.8601:0.0	.	697	Q9P2P5	HECW2_HUMAN	L	341;697	ENSP00000386775:S341L;ENSP00000260983:S697L	ENSP00000260983:S697L	S	-	2	0	HECW2	196891769	0.861000	0.29849	0.005000	0.12908	0.014000	0.08584	3.430000	0.52807	2.509000	0.84616	0.561000	0.74099	TCG		0.612	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		6	110	0	0	0	1	0	6	110					A	197183524	G	A	197183524	3	1	311	1	0	0	0	0	1	0	0	0	7043	1059	37	1	2712	1	HECW2	2	197183524	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17579085	197183524	46015849	119	31193											
BZW1	9689	broad.mit.edu	37	chr2	201683504	201683504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatatgtcaaggaggagatGaaaaaaaacaacatcccaga	8	6	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	ENST00000409600.1	+	9	1301	c.846G>A	c.(844-846)atG>atA	p.M282I	BZW1_ENST00000452790.2_Missense_Mutation_p.M314I|BZW1_ENST00000409226.1_Missense_Mutation_p.M286I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-846)atG>atA		basic leucine zipper and W2 domains 1							80	74	76					2																	201683504		1822	4076	5898	SO:0001583	missense	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504G>A	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.846G>A	2.37:g.201683504G>A	ENSP00000386474:p.Met282Ile					BZW1_ENST00000452790.2_Missense_Mutation_p.M314I|BZW1_ENST00000409226.1_Missense_Mutation_p.M286I	p.M282I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	c.846G>A	CCDS56156.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459355	0.63401	.	.	ENSG00000082153	ENST00000410110;ENST00000409600;ENST00000431249;ENST00000409226;ENST00000452790	T;T;T;T	0.79454	0.91;-1.27;-1.27;-1.27	5.56	5.56	0.83823	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	L	0.53671	1.685	0.80722	D	1	B;B	0.16396	0.017;0.005	B;B	0.16289	0.015;0.008	T	0.68352	-0.5431	10	0.24483	T	0.36	-10.8224	19.9052	0.97004	0.0:0.0:1.0:0.0	.	314;282	B4DLZ8;Q7L1Q6	.;BZW1_HUMAN	I	282;282;198;286;314	ENSP00000387086:M282I;ENSP00000386474:M282I;ENSP00000386837:M286I;ENSP00000394316:M314I	ENSP00000386837:M286I	M	+	3	0	BZW1	201391749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.690000	0.98676	2.776000	0.95493	0.655000	0.94253	ATG		0.373	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		19	33	0	0	0	1	0	19	33					A	201683504	G	A	201683504	3	1	311	1	0	0	0	0	1	0	0	0	1578	1290	45	2	876	2	BZW1	2	201683504	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4499980	201683504	41515869	120	31194											
CD28	940	broad.mit.edu	37	chr2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacatgaacatgactcccCgccgccccgggcccacccgc	8	21	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	ENST00000324106.8	+	4	738	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_ENST00000458610.2_Missense_Mutation_p.R211C|CD28_ENST00000374481.3_Missense_Mutation_p.R113C|CD28_ENST00000374478.4_Missense_Mutation_p.R78C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	197					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597																																						ENST00000374481.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(337-339)Cgc>Tgc		CD28 molecule							69	75	73					2																	204599561		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204599561C>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.589C>T	2.37:g.204599561C>T	ENSP00000324890:p.Arg197Cys					CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000324106.7_Missense_Mutation_p.R197C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C	p.R113C			P10747	CD28_HUMAN			5	559	+			197			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.337C>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844155	0.32606	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.75	3.84	0.44239	.	0.235357	0.27700	N	0.018215	D	0.89255	0.6663	M	0.81682	2.555	0.26573	N	0.973524	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.98	T	0.81393	-0.0953	10	0.87932	D	0	-17.9671	7.0568	0.25104	0.1728:0.7376:0.0:0.0896	.	78;197	P10747-2;P10747	.;CD28_HUMAN	C	113;211;197;78	ENSP00000363605:R113C;ENSP00000393648:R211C;ENSP00000324890:R197C;ENSP00000363602:R78C	ENSP00000324890:R197C	R	+	1	0	CD28	204307806	0.737000	0.28175	0.059000	0.19551	0.012000	0.07955	1.123000	0.31308	1.055000	0.40461	0.655000	0.94253	CGC		0.597	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		83	173	0	0	0	1	0	83	173					T	204599561	C	T	204599561	3	4	311	1	0	0	0	0	1	0	0	0	2993	652	23	1	603	1	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2916057	204599561	38599812	121	31195											
ABCA12	26154	broad.mit.edu	37	chr2	215809802	215809802	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaggtgccgtttcgacttCggatccatgccagagctcgg	13	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	ENST00000272895.7	-	49	7485	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	p.P2422P(1)		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)		GTTTCGACTTCGGATCCATGC	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - coding silent(1)	p.P2422P(1)	large_intestine(1)	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						c.(7264-7266)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 12							117	101	106					2																	215809802		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215809802C>T	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.7266G>A	2.37:g.215809802C>T						AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	p.P2422P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	49	7485	-		Renal(323;0.127)	2422			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.7266G>A	CCDS33372.1																																																																																				0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		26	29	0	0	0	1	0	26	29					T	215809802	C	T	215809802	2	4	311	1	0	0	0	0	0	0	0	1	30	871	31	1		1	ABCA12	2	215809802	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11210241	215809802	27389571	122	31196											
ATIC	471	broad.mit.edu	37	chr2	216209588	216209588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtgctacgccaagaaCgggcaggtaagtgggctgtt	15	8	1	1	rs553792539		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	ENST00000236959.9	+	13	1640	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	ATIC_ENST00000435675.1_Silent_p.N437N|ATIC_ENST00000540518.1_Silent_p.N379N	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	438					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488			T	ALK	ALCL								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17118	0.0		0.0	False		,,,				2504	0.0					ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1309-1311)aaC>aaT		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						113	93	100					2																	216209588		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216209588C>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1314C>T	2.37:g.216209588C>T						ATIC_ENST00000236959.9_Silent_p.N438N|ATIC_ENST00000540518.1_Silent_p.N379N	p.N437N			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	12	1702	+		Renal(323;0.229)	438					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.1311C>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	9.767	1.171598	0.21704	.	.	ENSG00000138363	ENST00000446622;ENST00000426233	.	.	.	5.91	-3.79	0.04320	.	.	.	.	.	T	0.62889	0.2465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63125	-0.6707	4	.	.	.	-15.5841	13.6417	0.62255	0.0:0.3646:0.0:0.6354	.	.	.	.	W	132;107	.	.	R	+	1	2	ATIC	215917833	0.120000	0.22244	0.954000	0.39281	0.844000	0.47949	-0.468000	0.06656	-0.482000	0.06782	-1.193000	0.01689	CGG		0.488	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		28	61	0	0	0	1	0	28	61					T	216209588	C	T	216209588	2	4	311	1	0	0	0	0	0	0	0	1	1105	535	19	1		1	ATIC	2	216209588	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	399786	216209588	26989785	123	31197											
SPEG	10290	broad.mit.edu	37	chr2	220334066	220334066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggttccacaatggccaccGcatccagagcagcgacgacc	10	16	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	ENST00000312358.7	+	13	3812	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1227	Ig-like 6.				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)		AATGGCCACCGCATCCAGAGC	0.642																																						ENST00000312358.7																			0				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						c.(3679-3681)cGc>cAc		SPEG complex locus							42	50	48					2																	220334066		2166	4257	6423	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334066G>A	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.3680G>A	2.37:g.220334066G>A	ENSP00000311684:p.Arg1227His					SPEG_ENST00000485813.1_3'UTR	p.R1227H	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	13	3812	+		Renal(207;0.0183)	1227			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3680G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542800	0.65198	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000657	T	0.75642	0.3877	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76828	-0.2815	10	0.66056	D	0.02	.	11.7746	0.51979	0.0799:0.0:0.9201:0.0	.	1227	Q15772	SPEG_HUMAN	H	1227	ENSP00000311684:R1227H	ENSP00000265327:R1227H	R	+	2	0	SPEG	220042310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.232000	0.51302	2.573000	0.86826	0.655000	0.94253	CGC		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		36	37	0	0	0	1	0	36	37					A	220334066	G	A	220334066	3	1	311	1	0	0	0	0	1	0	0	0	15035	1087	38	1	3742	1	SPEG	2	220334066	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4124478	220334066	22865307	124	31198											
CCL20	6364	broad.mit.edu	37	chr2	228678691	228678691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctactccacctctgcGgcgaatcagaaggtaagtgt	11	11	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	ENST00000358813.4	+	1	122	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_ENST00000409189.3_Missense_Mutation_p.G22S			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	22					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		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;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473																																						ENST00000409189.3																			0				cervix(1)|lung(2)	3						c.(64-66)Ggc>Agc		chemokine (C-C motif) ligand 20							169	158	162					2																	228678691		2203	4300	6503	SO:0001583	missense	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228678691G>A	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"Chemokine ligands", "Endogenous ligands"	10619	protein-coding gene	gene with protein product		601960	"small inducible cytokine subfamily A (Cys-Cys), member 20"	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.64G>A	2.37:g.228678691G>A	ENSP00000351671:p.Gly22Ser					CCL20_ENST00000358813.4_Missense_Mutation_p.G22S	p.G22S	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	1	134	+		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)	22					Q53S51|Q99664	Missense_Mutation	SNP	ENST00000358813.4	37	c.64G>A	CCDS2469.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.259751	0.00262	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.03413	4.12;3.94	5.39	0.318	0.15867	.	0.582922	0.18617	N	0.135982	T	0.02455	0.0075	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.47459	-0.9116	9	0.19147	T	0.46	-5.3013	9.7403	0.40413	0.666:0.0:0.334:0.0	.	22;22	P78556-2;P78556	.;CCL20_HUMAN	S	22	ENSP00000386273:G22S;ENSP00000351671:G22S	ENSP00000351671:G22S	G	+	1	0	CCL20	228386935	0.006000	0.16342	0.239000	0.24122	0.000000	0.00434	0.383000	0.20651	-0.109000	0.12044	-3.266000	0.00048	GGC		0.473	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		24	258	0	0	0	1	0	24	258					A	228678691	G	A	228678691	3	1	311	1	0	0	0	0	1	0	0	0	2892	1116	39	1	66	1	CCL20	2	228678691	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8344625	228678691	14520682	125	31199											
HTR2B	3357	broad.mit.edu	37	chr2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	TT	-													ttccatgtttcttgaaaaacTtagagttctctgccattgga							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	ENST00000258400.3	-	4	1788_1789	c.1276_1277delAA	c.(1276-1278)aagfs	p.K426fs	PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	426					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	CTTGAAAAACTTAGAGTTCTCT	0.426																																					Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1276-1278)gfs		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)																																			SO:0001589	frameshift_variant	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973400_231973401delTT		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	protein-coding gene	gene with protein product		601122	"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.1276_1277delAA	2.37:g.231973400_231973401delTT	ENSP00000258400:p.Lys426fs					PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	p.K426fs	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1788_1789	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	426					B2R9D5|Q53TI1|Q62221|Q6P523	Frame_Shift_Del	DEL	ENST00000258400.3	37	c.1276_1277delAA	CCDS2483.1																																																																																				0.426	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		34	69						34	69	---	---	---	---	-	231973401	TT	-	231973400	7	5	311	1	0	1	0	1	0	0	0	0	7442	1609	56	0	172	0	HTR2B	2	231973400	Frame_Shift_Del	DEL	TT	TCGA-HT-8564-01A-11D-2395-08	3294709	231973400	11225973	126	31200											
DIS3L2	129563	broad.mit.edu	37	chr2	233128091	233128091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtcttgaatctccacGgaattgccaagcagttacgc	10	12	2	1	rs375517001		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	ENST00000409307.1	+	12	1600	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.G534R					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1600-1602)Gga>Aga		DIS3 mitotic control homolog (S. cerevisiae)-like 2		G	ARG/GLY	0,4090		0,0,2045	97	101	99		1600	-9.5	0	2		99	1,8423		0,1,4211	no	missense	DIS3L2	NM_152383.4	125	0,1,6256	AA,AG,GG		0.0119,0.0,0.0080	benign	534/886	233128091	1,12513	2045	4212	6257	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233128091G>A	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1600G>A	2.37:g.233128091G>A	ENSP00000386799:p.Gly534Arg					DIS3L2_ENST00000409307.1_Missense_Mutation_p.G534R|DIS3L2_ENST00000273009.6_Intron	p.G534R	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	13	1876	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	534						Missense_Mutation	SNP	ENST00000409307.1	37	c.1600G>A	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.179685	0.01633	0.0	1.19E-4	ENSG00000144535	ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.32753	1.44;1.44;1.44	5.2	-9.46	0.00597	Ribonuclease II/R (2);	1.577580	0.03015	N	0.149990	T	0.09818	0.0241	N	0.01242	-0.935	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24835	-1.0149	9	.	.	.	8.9406	11.8781	0.52558	0.3477:0.4391:0.2132:0.0	.	534	Q8IYB7	DI3L2_HUMAN	R	534;534;534;534;169	ENSP00000315569:G534R;ENSP00000386799:G534R;ENSP00000415419:G169R	.	G	+	1	0	DIS3L2	232836335	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.488000	0.02308	-2.916000	0.00306	-0.810000	0.03169	GGA		0.522	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		17	121	0	0	0	1	0	17	121					A	233128091	G	A	233128091	3	1	311	1	0	0	0	0	1	0	0	0	4537	1117	39	1	1646	1	DIS3L2	2	233128091	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1154691	233128091	10071282	127	31201											
CHRNG	1146	broad.mit.edu	37	chr2	233405401	233405401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaccatggtgtggcggccGgatatcgtgctggagaacaa	14	10	0	1	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	ENST00000389494.3	+	4	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_ENST00000389492.3_Silent_p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	110					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TGTGGCGGCCGGATATCGTGC	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14671	0.0		0.0	False		,,,				2504	0.0					ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(328-330)ccG>ccA		cholinergic receptor, nicotinic, gamma (muscle)		G		1,4405	2.1+/-5.4	0,1,2202	38	29	32		330	-8.6	0	2	dbSNP_134	32	0,8600		0,0,4300	no	coding-synonymous	CHRNG	NM_005199.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		110/518	233405401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233405401G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.330G>A	2.37:g.233405401G>A						CHRNG_ENST00000389492.3_Silent_p.P110P	p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	4	351	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	110					B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.330G>A	CCDS33400.1																																																																																				0.642	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		21	13	0	0	0	1	0	21	13					A	233405401	G	A	233405401	2	1	311	1	0	0	0	0	0	0	0	1	3396	1103	39	1		1	CHRNG	2	233405401	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	277310	233405401	9793972	128	31202											
DGKD	8527	broad.mit.edu	37	chr2	234371341	234371341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataacttcagagctctgcGcagtgagacggagctgctgc	13	10	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	ENST00000264057.2	+	26	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1049					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(3145-3147)cGc>cAc		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						128	132	131					2																	234371341		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371341G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3146G>A	2.37:g.234371341G>A	ENSP00000264057:p.Arg1049His					DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	p.R1049H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3158	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	1049					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.3146G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983906	0.35036	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79141	-1.07;-1.24	4.08	3.19	0.36642	.	0.168242	0.34853	N	0.003637	T	0.47135	0.1429	N	0.02391	-0.57	0.27583	N	0.949535	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24728	-1.0152	10	0.33940	T	0.23	.	3.7986	0.08750	0.3468:0.0:0.6532:0.0	.	1005;1049	Q16760-2;Q16760	.;DGKD_HUMAN	H	1049;1005	ENSP00000264057:R1049H;ENSP00000386455:R1005H	ENSP00000264057:R1049H	R	+	2	0	DGKD	234036080	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.790000	0.62453	2.270000	0.75569	0.655000	0.94253	CGC		0.597	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		38	249	0	0	0	1	0	38	249					A	234371341	G	A	234371341	3	1	311	1	0	0	0	0	1	0	0	0	4467	1087	38	1	3272	1	DGKD	2	234371341	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965940	234371341	8828032	129	31203											
UGT1A8	54658	broad.mit.edu	37	chr2	234526381	234526381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggtggaccagccccAttcccctatgtgtttctctg	10	14	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	ENST00000373450.4	+	1	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GACCAGCCCCATTCCCCTATG	0.572																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(28-30)Att>Gtt									80	67	71					2																	234526381		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526381A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.28A>G	2.37:g.234526381A>G	ENSP00000362549:p.Ile10Val						p.I10V	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	91	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.28A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930862	0.34096	.	.	ENSG00000242366	ENST00000373450	T	0.57907	0.37	3.96	1.04	0.20106	.	.	.	.	.	T	0.21801	0.0525	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16394	-1.0404	9	0.28530	T	0.3	.	3.2411	0.06780	0.1386:0.5698:0.1343:0.1572	.	10;10	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	V	10	ENSP00000362549:I10V	ENSP00000362549:I10V	I	+	1	0	UGT1A8	234191120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.783000	0.04638	-0.136000	0.11475	-2.379000	0.00233	ATT		0.572	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			57	64	0	0	0	1	0	57	64					G	234526381	A	G	234526381	3	3	311	1	0	0	0	0	1	0	0	0	16948	217	8	3	30	3	UGT1A8	2	234526381	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	155040	234526381	8672992	130	31204											
HDAC4	9759	broad.mit.edu	37	chr2	239975226	239975226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtctcggcttcttcgttctCgcaagtctgagcctcgatca	9	14	5	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	ENST00000345617.3	-	26	3936	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1049	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|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)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(3145-3147)Gag>Aag		histone deacetylase 4							42	48	46					2																	239975226		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239975226C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3145G>A	2.37:g.239975226C>T	ENSP00000264606:p.Glu1049Lys					HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	p.E1049K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	26	3936	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	1049			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.3145G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348008	0.82132	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.66638	0.19;-0.22	4.57	4.57	0.56435	.	0.053938	0.64402	D	0.000001	T	0.72269	0.3439	M	0.81497	2.545	0.80722	D	1	P;P	0.48640	0.831;0.913	B;P	0.45276	0.343;0.475	T	0.78422	-0.2210	10	0.56958	D	0.05	.	15.9316	0.79663	0.0:1.0:0.0:0.0	.	1017;1049	Q53SM2;P56524	.;HDAC4_HUMAN	K	1049;937;633	ENSP00000264606:E1049K;ENSP00000440481:E633K	ENSP00000264606:E1049K	E	-	1	0	HDAC4	239640163	1.000000	0.71417	0.994000	0.49952	0.240000	0.25518	6.566000	0.73978	2.254000	0.74563	0.650000	0.86243	GAG		0.662	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		53	63	0	0	0	1	0	53	63					T	239975226	C	T	239975226	3	4	311	1	0	0	0	0	1	0	0	0	7009	893	31	1	117	1	HDAC4	2	239975226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5448845	239975226	3224147	131	31205											
ANKMY1	51281	broad.mit.edu	37	chr2	241468876	241468876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgtcctggctgccatcGgggtaggtctcgacacctgg	13	15	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	ENST00000272972.3	-	4	478	c.264C>T	c.(262-264)ccC>ccT	p.P88P	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000391987.1_Silent_p.P88P|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000406958.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		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;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(262-264)ccC>ccT		ankyrin repeat and MYND domain containing 1							39	44	42					2																	241468876		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468876G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.264C>T	2.37:g.241468876G>A						ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.P88P	p.P88P			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	630	-		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)	88					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.264C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.079896	0.08533	.	.	ENSG00000144504	ENST00000443318	.	.	.	4.91	-7.94	0.01152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.2575	2.8509	0.05558	0.3809:0.1999:0.327:0.0921	.	.	.	.	X	33	.	.	R	-	1	2	ANKMY1	241117549	0.002000	0.14202	0.759000	0.31340	0.309000	0.27889	-3.015000	0.00645	-1.178000	0.02741	-1.152000	0.01820	CGA		0.602	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		27	50	0	0	0	1	0	27	50					A	241468876	G	A	241468876	2	1	311	1	0	0	0	0	0	0	0	1	634	1103	39	1		1	ANKMY1	2	241468876	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1493650	241468876	1730497	132	31206											
GPR35	2859	broad.mit.edu	37	chr2	241570136	241570136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctggagacgatccgtcGcgccctgtacataaccagca	9	16	0	1	rs554457295		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	ENST00000319838.5	+	6	1709	c.767G>A	c.(766-768)cGc>cAc	p.R256H	GPR35_ENST00000430267.1_Missense_Mutation_p.R256H|GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	256					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.001					ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(766-768)cGc>cAc		G protein-coupled receptor 35							145	123	130					2																	241570136		2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241570136G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.767G>A	2.37:g.241570136G>A	ENSP00000322731:p.Arg256His					GPR35_ENST00000430267.1_Missense_Mutation_p.R256H|GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H	p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1709	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	256					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.767G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112721	0.06881	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	3.34	-6.69	0.01772	GPCR, rhodopsin-like superfamily (1);	4.386660	0.00769	N	0.001198	T	0.32315	0.0825	L	0.39245	1.2	0.09310	N	1	D;D;P	0.56521	0.976;0.972;0.925	P;P;B	0.51806	0.68;0.652;0.439	T	0.46148	-0.9212	10	0.14656	T	0.56	0.3407	4.3961	0.11363	0.3557:0.0:0.3151:0.3292	.	341;287;256	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	256;256;287;256;256	ENSP00000322731:R256H;ENSP00000385140:R256H;ENSP00000415890:R287H;ENSP00000384263:R256H;ENSP00000411788:R256H	ENSP00000322731:R256H	R	+	2	0	GPR35	241218809	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.340000	0.00506	-2.252000	0.00699	0.305000	0.20034	CGC		0.622	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		124	145	0	0	0	1	0	124	145					A	241570136	G	A	241570136	3	1	311	1	0	0	0	0	1	0	0	0	6690	1087	38	1	769	1	GPR35	2	241570136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101260	241570136	1629237	133	31207											
KIF1A	547	broad.mit.edu	37	chr2	241680733	241680733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagtagaccagcaggtcGtacttgcagtggcagggtcc	14	10	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	ENST00000320389.7	-	33	3557	c.3399C>T	c.(3397-3399)taC>taT	p.Y1133Y	KIF1A_ENST00000498729.2_Silent_p.Y1234Y	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1133					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)		CCAGCAGGTCGTACTTGCAGT	0.662																																						ENST00000498729.2																			0				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						c.(3700-3702)taC>taT		kinesin family member 1A							31	42	38					2																	241680733		2110	4228	6338	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241680733G>A	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.3399C>T	2.37:g.241680733G>A						KIF1A_ENST00000320389.7_Silent_p.Y1133Y	p.Y1234Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		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)	35	3948	-		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)	1133					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.3702C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811363	0.16537	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.44	-0.612	0.11597	.	.	.	.	.	T	0.55924	0.1951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50189	-0.8857	4	.	.	.	.	9.9169	0.41439	0.6337:0.0:0.3663:0.0	.	.	.	.	M	57	.	.	T	-	2	0	KIF1A	241329406	0.013000	0.17824	0.998000	0.56505	0.813000	0.45954	-1.019000	0.03622	-0.129000	0.11620	-0.384000	0.06662	ACG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	14	0	0	0	1	0	11	14					A	241680733	G	A	241680733	2	1	311	1	0	0	0	0	0	0	0	1	8283	1140	40	1		1	KIF1A	2	241680733	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	110597	241680733	1518640	134	31208											
ANO7	50636	broad.mit.edu	37	chr2	242148714	242148714	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacaggccggccggctgttCgaccacggcggcaccgtgtt	14	16	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	ENST00000274979.8	+	12	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ANO7_ENST00000402430.3_Silent_p.F417F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	418					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						GCCGGCTGTTCGACCACGGCG	0.647																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(1252-1254)ttC>ttT		anoctamin 7							17	15	16					2																	242148714		2177	4248	6425	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242148714C>T	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.1254C>T	2.37:g.242148714C>T						ANO7_ENST00000402430.3_Silent_p.F417F	p.F418F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			12	1357	+			418					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.1254C>T	CCDS33423.1																																																																																				0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		4	12	0	0	0	1	0	4	12					T	242148714	C	T	242148714	2	4	311	1	0	0	0	0	0	0	0	1	702	883	31	1		1	ANO7	2	242148714	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	467981	242148714	1050659	135	31209											
HDLBP	3069	broad.mit.edu	37	chr2	242169651	242169651	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacagtgacgcagttggggtCtggggctccgctctgtggga	17	10	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242169651C>A	ENST00000391975.1	-	26	3735	c.3508G>T	c.(3508-3510)Gac>Tac	p.D1170Y	HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1170	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGTTGGGGTCTGGGGCTCCG	0.557																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3508-3510)Gac>Tac		high density lipoprotein binding protein							54	51	52					2																	242169651		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169651C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3508G>T	2.37:g.242169651C>A	ENSP00000375836:p.Asp1170Tyr					HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y	p.D1170Y	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	26	3735	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1170			KH 14.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3508G>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753674	0.49362	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000442730	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.91	4.13	0.48395	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.040436	0.85682	D	0.000000	T	0.62514	0.2434	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.67791	-0.5579	10	0.87932	D	0	-44.0364	12.6665	0.56846	0.0:0.8677:0.0:0.1323	.	1137;1170	E7EM71;Q00341	.;VIGLN_HUMAN	Y	1170;1170;1170;1137;34	ENSP00000375836:D1170Y;ENSP00000375837:D1170Y;ENSP00000312042:D1170Y;ENSP00000399139:D1137Y;ENSP00000411211:D34Y	ENSP00000312042:D1170Y	D	-	1	0	HDLBP	241818324	1.000000	0.71417	0.084000	0.20598	0.005000	0.04900	5.906000	0.69900	0.845000	0.35118	-0.150000	0.13652	GAC		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		5	118	1	0	0.00198382	1	0.00199832	5	118					A	242169651	C	A	242169651	3	1	311	1	0	0	0	0	1	0	0	0	7025	913	32	4	310	4	HDLBP	2	242169651	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	20937	242169651	1029722	136	31210											
STK25	10494	broad.mit.edu	37	chr2	242437037	242437037	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccccatcctcacctctccGaagacgggccggaccagcgt	10	18	2	1	rs377756155		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	ENST00000316586.4	-	10	1447	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_ENST00000543554.1_Silent_p.F272F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000405585.1_Silent_p.F289F|STK25_ENST00000403346.3_Silent_p.F366F	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	366					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(1096-1098)ttC>ttT		serine/threonine kinase 25		G		0,4406		0,0,2203	68	70	69		1098	-4	1	2		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STK25	NM_006374.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		366/427	242437037	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242437037G>A	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1098C>T	2.37:g.242437037G>A						STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000405585.1_Silent_p.F289F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000403346.3_Silent_p.F366F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000543554.1_Silent_p.F272F	p.F366F	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	10	1447	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	366					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.1098C>T	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825050	0.50739	0.0	1.16E-4	ENSG00000115694	ENST00000423004	.	.	.	5.17	-3.97	0.04094	.	.	.	.	.	T	0.62429	0.2427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62435	-0.6855	4	.	.	.	.	13.4868	0.61371	0.4239:0.0:0.5761:0.0	.	.	.	.	W	210	.	.	R	-	1	2	STK25	242085710	0.775000	0.28604	0.984000	0.44739	0.853000	0.48598	-0.057000	0.11768	-0.598000	0.05806	-0.345000	0.07892	CGG		0.657	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		101	103	0	0	0	1	0	101	103					A	242437037	G	A	242437037	2	1	311	1	0	0	0	0	0	0	0	1	15293	1049	37	1		1	STK25	2	242437037	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267386	242437037	762336	137	31211											
C2orf85	285093	broad.mit.edu	37	chr2	242815361	242815361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctgggtgtccatgaccGtgtgcgtcttctggctgatg	15	9	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242815361G>A	ENST00000343216.3	+	2	1682	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_173821.2	NP_776182.2																					GTCCATGACCGTGTGCGTCTT	0.662																																						ENST00000343216.3																			0											c.(1654-1656)Gtg>Atg		CXXC finger protein 11							107	118	115					2																	242815361		2097	4192	6289	SO:0001583	missense	285093					integral to membrane		g.chr2:242815361G>A																												ENST00000343216.3:c.1654G>A	2.37:g.242815361G>A	ENSP00000345374:p.Val552Met						p.V552M	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1682	+			552						Missense_Mutation	SNP	ENST00000343216.3	37	c.1654G>A	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	17.02	3.281861	0.59758	.	.	ENSG00000188011	ENST00000343216	T	0.26660	1.72	2.12	-1.92	0.07618	.	.	.	.	.	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.66497	0.944	T	0.13522	-1.0506	9	0.87932	D	0	-26.1932	2.3043	0.04170	0.4349:0.0:0.3289:0.2362	.	552	Q14D33	CB085_HUMAN	M	552	ENSP00000345374:V552M	ENSP00000345374:V552M	V	+	1	0	C2orf85	242464034	0.000000	0.05858	0.001000	0.08648	0.869000	0.49853	0.109000	0.15417	-0.532000	0.06332	0.186000	0.17326	GTG		0.662	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			101	214	0	0	0	1	0	101	214					A	242815361	G	A	242815361	3	1	311	1	0	0	0	0	1	0	0	0	2200	1145	40	1	1660	1	C2orf85	2	242815361	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	378324	242815361	384012	138	31212											
NR2C2	7182	broad.mit.edu	37	chr3	15065637	15065637	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatagacaaacaggtcttctTgatccagggatgcttgtgaa	10	7	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	ENST00000425241.1	+	7	1082	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000406272.2_Silent_p.L240L|NR2C2_ENST00000393102.3_Silent_p.L240L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	240					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						CAGGTCTTCTTGATCCAGGGA	0.438																																						ENST00000425241.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(718-720)ctT>ctA		nuclear receptor subfamily 2, group C, member 2							162	137	145					3																	15065637		2203	4300	6503	SO:0001819	synonymous_variant	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15065637T>A	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.720T>A	3.37:g.15065637T>A						NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000393102.3_Silent_p.L240L|NR2C2_ENST00000406272.2_Silent_p.L240L	p.L240L			P49116	NR2C2_HUMAN			7	1082	+			240					A8K3H5|B6ZGT8|P55092	Silent	SNP	ENST00000425241.1	37	c.720T>A																																																																																					0.438	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		31	91	0	0	0	1	0	31	91					A	15065637	T	A	15065637	2	1	311	1	0	0	0	0	0	0	0	1	10623	1799	63	5		5	NR2C2	3	15065637	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08		15065637	182956793	139	31213											
DCLK3	85443	broad.mit.edu	37	chr3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccttgcatcctgcaacttCgctgcagctcttgggggtct	11	13	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	ENST00000416516.2	-	2	683	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(193-195)Gaa>Aaa		doublecortin-like kinase 3							91	95	94					3																	36779958		1952	4136	6088	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779958C>T	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.193G>A	3.37:g.36779958C>T	ENSP00000394484:p.Glu65Lys						p.E65K	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	683	-			65						Missense_Mutation	SNP	ENST00000416516.2	37	c.193G>A	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175598	0.21704	.	.	ENSG00000163673	ENST00000416516	T	0.69175	-0.38	4.7	3.77	0.43336	.	0.259976	0.20264	N	0.095801	T	0.51686	0.1689	L	0.32530	0.975	0.09310	N	1	P	0.39404	0.672	B	0.28553	0.091	T	0.56649	-0.7944	10	0.62326	D	0.03	.	15.1689	0.72854	0.0:0.8589:0.1411:0.0	.	65	Q9C098	DCLK3_HUMAN	K	65	ENSP00000394484:E65K	ENSP00000394484:E65K	E	-	1	0	DCLK3	36754962	0.086000	0.21541	0.010000	0.14722	0.033000	0.12548	1.270000	0.33086	2.339000	0.79563	0.655000	0.94253	GAA		0.612	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		180	45	0	0	0	1	0	180	45					T	36779958	C	T	36779958	3	4	311	1	0	0	0	0	1	0	0	0	4293	893	31	1	1769	1	DCLK3	3	36779958	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21714321	36779958	161242472	140	31214											
MLH1	4292	broad.mit.edu	37	chr3	37038172	37038172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcctgaagttgattcAgatccaagacaatggcaccg	13	9	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	ENST00000231790.2	+	2	395	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	60					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	"D, Mis, N, F, S"	E.coli MutL homolog gene			"E, O"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		0				NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(178-180)cAg>cCg	Mismatch excision repair (MMR)	mutL homolog 1							118	114	115					3																	37038172		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37038172A>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.179A>C	3.37:g.37038172A>C	ENSP00000231790:p.Gln60Pro					MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_5'UTR	p.Q60P	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			2	395	+			60					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.179A>C	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.818606	0.90790	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937	D	0.90133	-2.62	5.85	5.85	0.93711	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.064498	0.64402	D	0.000003	D	0.97337	0.9129	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	D	0.98805	1.0741	10	0.87932	D	0	-17.3785	15.215	0.73258	1.0:0.0:0.0:0.0	.	60;60	Q53GX1;P40692	.;MLH1_HUMAN	P	60;26;26	ENSP00000231790:Q60P	ENSP00000231790:Q60P	Q	+	2	0	MLH1	37013176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.438000	0.90305	2.229000	0.72834	0.519000	0.50382	CAG		0.413	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		51	11	0	0	0	1	0	51	11					C	37038172	A	C	37038172	3	2	311	1	0	0	0	0	1	0	0	0	9617	188	7	5	185	5	MLH1	3	37038172	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	258214	37038172	160984258	141	31215											
PRSS50	29122	broad.mit.edu	37	chr3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggacagcgcccccGgggcttcccctgcgccccag	13	19	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.P44L(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)cCg>cTg		protease, serine, 50							36	40	39					3																	46759103		2202	4298	6500	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759103G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	17910	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.131C>T	3.37:g.46759103G>A	ENSP00000418875:p.Pro44Leu					PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L	p.P44L			Q9UI38	TSP50_HUMAN			7	1801	-			44						Missense_Mutation	SNP	ENST00000460241.1	37	c.131C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014302	0.07959	.	.	ENSG00000206549	ENST00000315170;ENST00000460241	D;D	0.89552	-2.53;-2.53	3.29	-1.01	0.10169	.	1.022730	0.07856	N	0.965422	T	0.76884	0.4050	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.58864	-0.7561	9	.	.	.	.	4.5313	0.12006	0.2662:0.4115:0.3224:0.0	.	44	Q9UI38	TSP50_HUMAN	L	44	ENSP00000326598:P44L;ENSP00000418875:P44L	.	P	-	2	0	PRSS50	46734107	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	-0.241000	0.09681	-1.240000	0.01540	CCG		0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			36	13	0	0	0	1	0	36	13					A	46759103	G	A	46759103	3	1	311	1	0	0	0	0	1	0	0	0	12631	1116	39	1	1046	1	PRSS50	3	46759103	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9720931	46759103	151263327	142	31216											
DHX30	22907	broad.mit.edu	37	chr3	47891361	47891361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccattccctcagatgaCgggcgccgggccaccatctc	9	16	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:47891361C>T	ENST00000445061.1	+	22	3743	c.3336C>T	c.(3334-3336)gaC>gaT	p.D1112D	DHX30_ENST00000348968.4_Silent_p.D1084D|DHX30_ENST00000446256.2_Silent_p.D1073D|DHX30_ENST00000457607.1_Silent_p.D1140D|MIR1226_ENST00000408658.1_RNA	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1112						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)		CCTCAGATGACGGGCGCCGGG	0.692											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3217-3219)gaC>gaT		DEAH (Asp-Glu-Ala-His) box helicase 30							51	55	53					3																	47891361		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891361C>T	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.3336C>T	3.37:g.47891361C>T			OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	950	DHX30_ENST00000445061.1_Silent_p.D1112D|DHX30_ENST00000457607.1_Silent_p.D1140D|DHX30_ENST00000348968.4_Silent_p.D1084D	p.D1073D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	23	3791	+			1112					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.3219C>T	CCDS2759.1																																																																																				0.692	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		5	150	0	0	0	1	0	5	150					T	47891361	C	T	47891361	2	4	311	1	0	0	0	0	0	0	0	1	4504	535	19	1		1	DHX30	3	47891361	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1132258	47891361	150131069	143	31217											
FBXW12	285231	broad.mit.edu	37	chr3	48422276	48422276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacataaattatgtgccagcGcctgctggaccccaaaggtg	10	12	0	0	rs144607752		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	ENST00000296438.5	+	8	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	287										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)		ATGTGCCAGCGCCTGCTGGAC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19716	0.0		0.0	False		,,,				2504	0.0					ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(859-861)Gcc>Acc		F-box and WD repeat domain containing 12		G	THR/ALA,THR/ALA,THR/ALA	5,4401	9.9+/-24.2	0,5,2198	89	89	89		649,802,859	2.4	0	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	FBXW12	NM_001159927.1,NM_001159929.1,NM_207102.2	58,58,58	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	probably-damaging,probably-damaging,probably-damaging	217/395,268/446,287/465	48422276	6,13000	2203	4300	6503	SO:0001583	missense	285231							g.chr3:48422276G>A	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.859G>A	3.37:g.48422276G>A	ENSP00000296438:p.Ala287Thr					FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000468158.1_3'UTR	p.A287T	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1045	+			287					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.859G>A	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979209	0.53827	0.001135	1.16E-4	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.64260	1.34;-0.09;0.95;3.38	4.23	2.38	0.29361	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.186292	0.46145	D	0.000316	T	0.63827	0.2544	M	0.64997	1.995	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	P;P;P;P	0.53224	0.721;0.721;0.529;0.529	T	0.56715	-0.7933	10	0.72032	D	0.01	-5.7963	5.64	0.17559	0.1064:0.0:0.6992:0.1943	.	186;268;217;287	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	T	186;287;130;268;217	ENSP00000296438:A287T;ENSP00000413866:A130T;ENSP00000406139:A268T;ENSP00000414683:A217T	ENSP00000296438:A287T	A	+	1	0	FBXW12	48397280	0.639000	0.27234	0.009000	0.14445	0.012000	0.07955	1.332000	0.33805	0.481000	0.27557	0.650000	0.86243	GCC		0.443	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		116	35	0	0	0	1	0	116	35					A	48422276	G	A	48422276	3	1	311	1	0	0	0	0	1	0	0	0	5765	1087	38	1	922	1	FBXW12	3	48422276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	530915	48422276	149600154	144	31218											
BSN	8927	broad.mit.edu	37	chr3	49699985	49699985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcccattgcgtggtttcCgacagcgaaggtaatggcag	13	9	0	0	rs199525442		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	ENST00000296452.4	+	6	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3569					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)		GCGTGGTTTCCGACAGCGAAG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16532	0.0		0.0	False		,,,				2504	0.001					ENST00000296452.4																			0				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						c.(10705-10707)tcC>tcT		bassoon presynaptic cytomatrix protein							49	53	52					3																	49699985		2202	4294	6496	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699985C>T	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.10707C>T	3.37:g.49699985C>T							p.S3569S	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10821	+			3569					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.10707C>T	CCDS2800.1																																																																																				0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		71	25	0	0	0	1	0	71	25					T	49699985	C	T	49699985	2	4	311	1	0	0	0	0	0	0	0	1	1530	639	23	1		1	BSN	3	49699985	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1277709	49699985	148322445	145	31219											
SEMA3F	6405	broad.mit.edu	37	chr3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaagccaacaagaatgccGtggagtctgtgcagtatggc	12	9	1	1	rs560306002		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	ENST00000002829.3	+	18	2312	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M|SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	610	Ig-like C2-type.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1828-1830)Gtg>Atg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							99	87	91					3																	50224060		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50224060G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1828G>A	3.37:g.50224060G>A	ENSP00000002829:p.Val610Met					SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M|SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M	p.V610M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	18	2312	+			610			Ig-like C2-type.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1828G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448878	0.63178	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.54071	0.66;0.59;0.66	5.89	4.09	0.47781	.	0.407368	0.27554	N	0.018855	T	0.50069	0.1594	L	0.50333	1.59	0.31677	N	0.643629	D;P	0.53885	0.963;0.753	P;B	0.45195	0.473;0.219	T	0.59963	-0.7355	10	0.48119	T	0.1	.	12.6348	0.56677	0.1368:0.0:0.8632:0.0	.	579;610	C9JQ85;Q13275	.;SEM3F_HUMAN	M	511;610;579	ENSP00000388931:V511M;ENSP00000002829:V610M;ENSP00000409859:V579M	ENSP00000002829:V610M	V	+	1	0	SEMA3F	50199064	0.986000	0.35501	0.702000	0.30337	0.990000	0.78478	2.017000	0.40981	0.810000	0.34279	0.655000	0.94253	GTG		0.627	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		22	68	0	0	0	1	0	22	68					A	50224060	G	A	50224060	3	1	311	1	0	0	0	0	1	0	0	0	14029	1145	40	1	1894	1	SEMA3F	3	50224060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	524075	50224060	147798370	146	31220											
IFRD2	7866	broad.mit.edu	37	chr3	50326252	50326252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggagtgcagcacggcGcggaaagtagagcgctggcg	17	11	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	ENST00000429673.2	-	9	1193	c.1194C>T	c.(1192-1194)cgC>cgT	p.R398R	IFRD2_ENST00000417626.2_Silent_p.R334R|IFRD2_ENST00000436390.1_Silent_p.R334R|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.R500R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	398						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)		GCAGCACGGCGCGGAAAGTAG	0.602																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(1000-1002)cgC>cgT		interferon-related developmental regulator 2																																				SO:0001819	synonymous_variant	7866						binding	g.chr3:50326252G>A	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.1194C>T	3.37:g.50326252G>A						IFRD2_ENST00000429673.2_Silent_p.R398R|IFRD2_ENST00000336089.4_Silent_p.R500R|IFRD2_ENST00000417626.2_Silent_p.R334R	p.R334R			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	12	1499	-			398					Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	c.1002C>T	CCDS46831.1																																																																																				0.602	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		26	9	0	0	0	1	0	26	9					A	50326252	G	A	50326252	2	1	311	1	0	0	0	0	0	0	0	1	7554	1074	38	1		1	IFRD2	3	50326252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	102192	50326252	147696178	147	31221											
DNAH1	25981	broad.mit.edu	37	chr3	52380763	52380763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacatggtctggggtgaCgacttaattaacagccccta	11	9	1	2	rs375044038		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem. {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)		TCTGGGGTGACGACTTAATTA	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1930-1932)gaC>gaT		dynein, axonemal, heavy chain 1							45	47	46					3																	52380763		2132	4245	6377	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52380763C>T	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.1932C>T	3.37:g.52380763C>T							p.D644D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		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)	11	2193	+			644			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.1932C>T	CCDS46842.1																																																																																				0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		25	7	0	0	0	1	0	25	7					T	52380763	C	T	52380763	2	4	311	1	0	0	0	0	0	0	0	1	4597	535	19	1		1	DNAH1	3	52380763	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2054511	52380763	145641667	148	31222											
DNAH1	25981	broad.mit.edu	37	chr3	52407044	52407044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagtggatggaccacggCggctggtacgaccgcaagat	15	12	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	ENST00000420323.2	+	44	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2320	AAA 3. {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)		TGGACCACGGCGGCTGGTACG	0.612																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(6958-6960)ggC>ggT		dynein, axonemal, heavy chain 1							44	49	47					3																	52407044		2071	4199	6270	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52407044C>T	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.6960C>T	3.37:g.52407044C>T							p.G2320G	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		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)	44	7221	+			2320			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.6960C>T	CCDS46842.1																																																																																				0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	44	0	0	0	1	0	10	44					T	52407044	C	T	52407044	2	4	311	1	0	0	0	0	0	0	0	1	4597	755	27	1		1	DNAH1	3	52407044	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	26281	52407044	145615386	149	31223											
FLNB	2317	broad.mit.edu	37	chr3	58108831	58108831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaataggtgaaggcccaCggtcccggcctcgaaggtgg	14	12	1	1	rs371901421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	ENST00000295956.4	+	21	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_ENST00000357272.4_Silent_p.H1046H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000348383.5_Silent_p.H1046H|FLNB_ENST00000429972.2_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1046					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)		TGAAGGCCCACGGTCCCGGCC	0.542																																						ENST00000357272.4																			0				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						c.(3136-3138)caC>caT		filamin B, beta		T	,,,	0,4406		0,0,2203	98	101	100		3138,3138,3138,3138	-11	0.3	3		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1046/2634,1046/2592,1046/2579,1046/2603	58108831	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108831C>T	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.3138C>T	3.37:g.58108831C>T						FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000348383.5_Silent_p.H1046H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000295956.4_Silent_p.H1046H|FLNB_ENST00000429972.2_Silent_p.H1046H	p.H1046H			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3303	+			1046					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3138C>T	CCDS2885.1																																																																																				0.542	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		35	157	0	0	0	1	0	35	157					T	58108831	C	T	58108831	2	4	311	1	0	0	0	0	0	0	0	1	5934	535	19	1		1	FLNB	3	58108831	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5701787	58108831	139913599	150	31224											
ADAMTS9	56999	broad.mit.edu	37	chr3	64536656	64536656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcttgctcacgtcacagCgtgccccatgcacctcgttt	9	17	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	ENST00000498707.1	-	31	5123	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1594	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4780-4782)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							208	171	184					3																	64536656		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64536656C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4781G>A	3.37:g.64536656C>T	ENSP00000418735:p.Arg1594His					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	p.R1594H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	31	5123	-		Lung NSC(201;0.00682)	1594			TSP type-1 13.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4781G>A	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.260|3.260	-0.151307|-0.151307	0.06585|0.06585	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.52983	.|0.64;0.64	5.83|5.83	3.42|3.42	0.39159|0.39159	.|.	.|0.255751	.|0.39985	.|N	.|0.001216	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.03154|0.03154	-0.405|-0.405	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.04191|0.04191	-1.0970|-1.0970	5|10	.|0.15499	.|T	.|0.54	.|.	4.328|4.328	0.11050|0.11050	0.1229:0.0691:0.1284:0.6795|0.1229:0.0691:0.1284:0.6795	.|.	.|1566;1594;1594	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	T|H	650|1566;1594	.|ENSP00000295903:R1566H;ENSP00000418735:R1594H	.|ENSP00000295903:R1566H	A|R	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64511696|64511696	0.958000|0.958000	0.32768|0.32768	0.369000|0.369000	0.25952|0.25952	0.021000|0.021000	0.10359|0.10359	1.240000|1.240000	0.32731|0.32731	0.444000|0.444000	0.26612|0.26612	-0.482000|-0.482000	0.04802|0.04802	GCT|CGC		0.552	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			156	64	0	0	0	1	0	156	64					T	64536656	C	T	64536656	3	4	311	1	0	0	0	0	1	0	0	0	273	768	27	1	1062	1	ADAMTS9	3	64536656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6427825	64536656	133485774	151	31225											
SLC9A10	285335	broad.mit.edu	37	chr3	112005610	112005610	+	Frame_Shift_Del	DEL	A	A	-													cagggaggtcctcagtactgAaaaaaaactccttaaatatt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:112005610delA	ENST00000305815.5	-	2	281	c.29delT	c.(28-30)ttcfs	p.F10fs	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					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)										CTCAGTACTGAAAAAAAACTC	0.353																																						ENST00000305815.5																			0											c.(28-30)tcfs		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							57	58	58					3																	112005610		2203	4297	6500	SO:0001589	frameshift_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:112005610delA	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.29delT	3.37:g.112005610delA	ENSP00000306627:p.Phe10fs					SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs	p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			2	281	-			10					Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	ENST00000305815.5	37	c.29delT	CCDS33817.1																																																																																				0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		12	33						12	33	---	---	---	---	-	112005610	A	-	112005610	7	5	311	1	0	1	0	1	0	0	0	0	14710	246	9	0	3616	0	SLC9A10	3	112005610	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	47468954	112005610	86016820	152	31226											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-													cacctgggggtgtgcctgcaGggggggtcccattgctggca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						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)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Deletion - Frameshift(1)	p.P619fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1855-1857)ctfs		zinc finger and BTB domain containing 20							56	55	55					3																	114058003		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058003delG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs					ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs	p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2677	-			692					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1856delC	CCDS54626.1																																																																																				0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		88	28						88	28	---	---	---	---	-	114058003	G	-	114058003	7	5	311	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	2052393	114058003	83964427	153	31227											
ADCY5	111	broad.mit.edu	37	chr3	123036943	123036943	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccacataggcaccaaatcGgtcgtctacctgcttggagt	10	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	ENST00000462833.1	-	11	3490	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|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)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2278-2280)Cga>Tga		adenylate cyclase 5							146	117	127					3																	123036943		2203	4300	6503	SO:0001587	stop_gained	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123036943G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2278C>T	3.37:g.123036943G>A	ENSP00000419361:p.Arg760*					ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*	p.R760*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	11	3490	-			760					B7Z8A6|Q7RTV7|Q8NFM3	Nonsense_Mutation	SNP	ENST00000462833.1	37	c.2278C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	51	17.966695	0.99897	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	.	.	.	5.24	5.24	0.73138	.	0.080168	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.8267	0.70120	0.0:0.0:0.8473:0.1527	.	.	.	.	X	760;393;410;319	.	ENSP00000308685:R410X	R	-	1	2	ADCY5	124519633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.880000	0.48530	2.724000	0.93272	0.491000	0.48974	CGA		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		40	11	0	0	0	1	0	40	11					A	123036943	G	A	123036943	4	1	311	1	0	0	0	0	0	1	0	0	297	1124	39	1	1551	1	ADCY5	3	123036943	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8978940	123036943	74985487	154	31228											
UROC1	131669	broad.mit.edu	37	chr3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgatgtgcacacccagCggaaaggcccaaatccctgg	10	17	0	0	rs200384323		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity). {ECO:0000269|PubMed:19304569}.		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)		GCACACCCAGCGGAAAGGCCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17660	0.0		0.001	False		,,,				2504	0.0					ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1348-1350)cGc>cAc		urocanate hydratase 1		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	144	155	151		1529,1349	3.5	1	3		151	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	510/737,450/677	126216983	3,13003	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126216983C>T	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.1349G>A	3.37:g.126216983C>T	ENSP00000290868:p.Arg450His					UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	p.R450H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	14	1402	-			450		R -> C (in UROD; loss of activity).			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1349G>A	CCDS3038.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.2	4.109398	0.77096	2.27E-4	2.33E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.65916	-0.18;-0.18	4.4	3.52	0.40303	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87253	0.2274	10	0.87932	D	0	-9.3123	10.1803	0.42963	0.0:0.9002:0.0:0.0998	.	510;450	E9PE13;Q96N76	.;HUTU_HUMAN	H	450;510	ENSP00000290868:R450H;ENSP00000373073:R510H	ENSP00000290868:R450H	R	-	2	0	UROC1	127699673	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	0.851000	0.35264	0.491000	0.48974	CGC		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		12	360	0	0	0	1	0	12	360					T	126216983	C	T	126216983	3	4	311	1	0	0	0	0	1	0	0	0	17025	768	27	1	709	1	UROC1	3	126216983	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3180040	126216983	71805447	155	31229											
ACAD11	84129	broad.mit.edu	37	chr3	132361582	132361582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcactgcagtacagtAtaggcttgggaacggggaat	13	6	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	ENST00000264990.6	-	3	1285	c.314T>C	c.(313-315)aTa>aCa	p.I105T	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	105					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						GCAGTACAGTATAGGCTTGGG	0.328																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(313-315)aTa>aCa		acyl-CoA dehydrogenase family, member 11							94	98	97					3																	132361582		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132361582A>G	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.314T>C	3.37:g.132361582A>G	ENSP00000264990:p.Ile105Thr					ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000545291.1_5'UTR	p.I105T	NM_032169.4	NP_115545.3					3	1285	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.314T>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903781	0.72754	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.35048	1.33;1.33;1.33	6.06	6.06	0.98353	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.47040	0.1424	M	0.65677	2.01	0.80722	D	1	P;B	0.34699	0.464;0.222	B;B	0.41412	0.356;0.097	T	0.46428	-0.9192	9	0.62326	D	0.03	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	105;105	D6RDI8;Q709F0	.;ACD11_HUMAN	T	105	ENSP00000347636:I105T;ENSP00000264990:I105T;ENSP00000420907:I105T	ENSP00000264990:I105T	I	-	2	0	ACAD11	133844272	1.000000	0.71417	0.943000	0.38184	0.964000	0.63967	8.492000	0.90471	2.324000	0.78689	0.533000	0.62120	ATA		0.328	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		107	31	0	0	0	1	0	107	31					G	132361582	A	G	132361582	3	3	311	1	0	0	0	0	1	0	0	0	109	449	16	3	2100	3	ACAD11	3	132361582	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	6144599	132361582	65660848	156	31230											
NPHP3	27031	broad.mit.edu	37	chr3	132403500	132403502	+	In_Frame_Del	DEL	TTC	TTC	-													tctaaagctctttcataaagTtcttctgctttatcatactg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	ENST00000337331.5	-	24	3552_3554	c.3466_3468delGAA	c.(3466-3468)gaadel	p.E1156del	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1156					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCATAAAGTTCTTCTGCTTTA	0.419																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3466-3468)del		nephronophthisis 3 (adolescent)																																				SO:0001651	inframe_deletion	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132403500_132403502delTTC	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3466_3468delGAA	3.37:g.132403503_132403505delTTC	ENSP00000338766:p.Glu1156del					NPHP3_ENST00000326682.8_3'UTR	p.E1156del	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			24	3552_3554	-			1156					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	In_Frame_Del	DEL	ENST00000337331.5	37	c.3466_3468delGAA	CCDS3078.1																																																																																				0.419	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		40	20						40	20	---	---	---	---	-	132403502	TTC	-	132403500	7	5	311	1	0	1	0	1	0	0	0	0	10580	1722	60	0	540	0	NPHP3	3	132403500	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	41918	132403500	65618930	157	31231											
ZBTB38	253461	broad.mit.edu	37	chr3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgaagtgttcgatgacGcaagtgaccaggattccact	12	8	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T					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						GTTCGATGACGCAAGTGACCA	0.502																																						ENST00000514251.1																			0				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						c.(2716-2718)Gca>Aca		zinc finger and BTB domain containing 38							57	58	58					3																	141163946		1996	4166	6162	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163946G>A	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.2716G>A	3.37:g.141163946G>A	ENSP00000426387:p.Ala906Thr					ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T	p.A906T			Q8NAP3	ZBT38_HUMAN			4	2995	+			906						Missense_Mutation	SNP	ENST00000514251.1	37	c.2716G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394767	0.25205	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08720	3.06;3.06;3.06	5.28	4.4	0.53042	.	0.616774	0.14640	N	0.307266	T	0.07773	0.0195	L	0.40543	1.245	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.06405	0.002;0.002	T	0.31752	-0.9932	9	.	.	.	-4.0819	9.2626	0.37621	0.0766:0.1457:0.7777:0.0	.	907;906	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	906;906;907	ENSP00000426387:A906T;ENSP00000406955:A906T;ENSP00000372635:A907T	.	A	+	1	0	ZBTB38	142646636	0.034000	0.19679	0.004000	0.12327	0.794000	0.44872	1.838000	0.39211	1.227000	0.43598	0.650000	0.86243	GCA		0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			44	17	0	0	0	1	0	44	17					A	141163946	G	A	141163946	3	1	311	1	0	0	0	0	1	0	0	0	17536	1087	38	1	2718	1	ZBTB38	3	141163946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8760446	141163946	56858484	158	31232											
ZBTB38	253461	broad.mit.edu	37	chr3	141164403	141164403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacttacagaaacatgaacGcatccacctgggcttgaagg	9	10	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	ENST00000514251.1	+	4	3452	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H|ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H					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						AAACATGAACGCATCCACCTG	0.478																																						ENST00000514251.1																			0				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						c.(3172-3174)cGc>cAc		zinc finger and BTB domain containing 38							98	101	100					3																	141164403		2063	4203	6266	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164403G>A	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.3173G>A	3.37:g.141164403G>A	ENSP00000426387:p.Arg1058His					ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H|ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H	p.R1058H			Q8NAP3	ZBT38_HUMAN			4	3452	+			1058						Missense_Mutation	SNP	ENST00000514251.1	37	c.3173G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925247	0.73213	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.25749	1.78;1.78;1.78	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.61489	0.2351	M	0.90542	3.125	0.40741	D	0.982838	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.68209	-0.5469	9	.	.	.	-27.8421	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1059;1058	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	H	1058;1058;1059	ENSP00000426387:R1058H;ENSP00000406955:R1058H;ENSP00000372635:R1059H	.	R	+	2	0	ZBTB38	142647093	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	2.148000	0.42235	2.713000	0.92767	0.655000	0.94253	CGC		0.478	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			71	33	0	0	0	1	0	71	33					A	141164403	G	A	141164403	3	1	311	1	0	0	0	0	1	0	0	0	17536	1087	38	1	3175	1	ZBTB38	3	141164403	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	457	141164403	56858027	159	31233											
AADACL2	344752	broad.mit.edu	37	chr3	151461914	151461914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcctgaatagatggaCggcaaacacgcttgatgctg	11	9	0	4	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	ENST00000356517.3	+	3	504	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	132						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(394-396)aCg>aTg		arylacetamide deacetylase-like 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	171	160	164		395	-2.1	0	3	dbSNP_134	164	0,8600		0,0,4300	no	missense	AADACL2	NM_207365.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	132/402	151461914	1,13005	2203	4300	6503	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151461914C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.395C>T	3.37:g.151461914C>T	ENSP00000348911:p.Thr132Met						p.T132M	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	504	+			132					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.395C>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368687	0.11352	2.27E-4	0.0	ENSG00000197953	ENST00000356517	T	0.58358	0.34	5.18	-2.12	0.07165	Alpha/beta hydrolase fold-3 (1);	0.557546	0.18757	N	0.132003	T	0.44808	0.1311	N	0.20328	0.56	0.21697	N	0.999581	D	0.61080	0.989	P	0.58077	0.832	T	0.49753	-0.8906	10	0.17369	T	0.5	-9.9287	11.611	0.51059	0.0:0.4909:0.0:0.5091	.	132	Q6P093	ADCL2_HUMAN	M	132	ENSP00000348911:T132M	ENSP00000348911:T132M	T	+	2	0	AADACL2	152944604	0.325000	0.24660	0.012000	0.15200	0.185000	0.23345	0.595000	0.24029	-0.300000	0.08895	-0.140000	0.14226	ACG		0.358	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		72	25	0	0	0	1	0	72	25					T	151461914	C	T	151461914	3	4	311	1	0	0	0	0	1	0	0	0	11	536	19	1	405	1	AADACL2	3	151461914	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10297511	151461914	46560516	160	31234											
MCCC1	56922	broad.mit.edu	37	chr3	182740306	182740306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagtctccctcgctgtAaagattaccaaggacttgga	10	10	1	1	rs143892743	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	ENST00000265594.4	-	16	1914	c.1768T>C	c.(1768-1770)Tac>Cac	p.Y590H	MCCC1_ENST00000492597.1_Missense_Mutation_p.Y481H|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	590					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1441-1443)Tac>Cac		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)	A	HIS/TYR	0,4406		0,0,2203	71	70	70		1768	0.5	0	3	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCCC1	NM_020166.3	83	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	590/726	182740306	1,13005	2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182740306A>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1768T>C	3.37:g.182740306A>G	ENSP00000265594:p.Tyr590His					MCCC1_ENST00000265594.4_Missense_Mutation_p.Y590H|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR	p.Y481H			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		15	2143	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		590			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.1441T>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.171919	0.01646	0.0	1.16E-4	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000476176	D;D;D	0.95205	-3.64;-3.58;-3.39	5.67	0.527	0.17084	.	1.690830	0.02444	N	0.084856	D	0.85986	0.5825	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.77027	-0.2740	10	0.15066	T	0.55	.	5.205	0.15285	0.5325:0.2603:0.2072:0.0	.	543;481;590	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	H	590;481;440;543	ENSP00000265594:Y590H;ENSP00000419898:Y481H;ENSP00000420433:Y543H	ENSP00000265594:Y590H	Y	-	1	0	MCCC1	184223000	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.450000	0.21762	-0.064000	0.13043	0.533000	0.62120	TAC		0.313	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		15	57	0	0	0	1	0	15	57					G	182740306	A	G	182740306	3	3	311	1	0	0	0	0	1	0	0	0	9374	362	13	3	425	3	MCCC1	3	182740306	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	31278392	182740306	15282124	161	31235											
DGKQ	1609	broad.mit.edu	37	chr4	960969	960969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcccgcggcagagcccGgatgacccaggcctctggcg	16	16	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	ENST00000273814.3	-	9	1241	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	390					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)			GGCAGAGCCCGGATGACCCAG	0.711																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1168-1170)Cgg>Tgg		diacylglycerol kinase, theta 110kDa							9	14	12					4																	960969		2095	4216	6311	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:960969G>A	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.1168C>T	4.37:g.960969G>A	ENSP00000273814:p.Arg390Trp						p.R390W	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		9	1241	-			390					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1168C>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776377	0.70107	.	.	ENSG00000145214	ENST00000273814	D	0.83673	-1.75	5.02	3.09	0.35607	.	0.059775	0.64402	D	0.000008	T	0.81240	0.4781	N	0.14661	0.345	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.974	T	0.81858	-0.0739	10	0.72032	D	0.01	.	9.3876	0.38352	0.0:0.0:0.5958:0.4042	.	390;390	E9KL49;P52824	.;DGKQ_HUMAN	W	390	ENSP00000273814:R390W	ENSP00000273814:R390W	R	-	1	2	DGKQ	950969	0.119000	0.22226	0.790000	0.31976	0.670000	0.39368	0.370000	0.20433	1.039000	0.40074	0.650000	0.86243	CGG		0.711	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			3	19	0	0	0	1	0	3	19					A	960969	G	A	960969	3	1	311	1	0	0	0	0	1	0	0	0	4473	1115	39	1	1720	1	DGKQ	4	960969	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		960969	190193307	162	31236											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306942	2306942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgcctgggctgccctcCgctcctggcctgtgagctgg	13	18	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	ENST00000290974.2	-	8	1464	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	ZFYVE28_ENST00000515312.1_Silent_p.A305A|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.A345A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	375					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						GGCTGCCCTCCGCTCCTGGCC	0.667																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1123-1125)gcG>gcA		zinc finger, FYVE domain containing 28							37	38	38					4																	2306942		2203	4299	6502	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306942C>T	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.1125G>A	4.37:g.2306942C>T						ZFYVE28_ENST00000511071.1_Silent_p.A345A|ZFYVE28_ENST00000515312.1_Silent_p.A305A|RP11-478C1.7_ENST00000510632.1_RNA	p.A375A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1464	-			375					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1125G>A	CCDS33942.1																																																																																				0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		48	84	0	0	0	1	0	48	84					T	2306942	C	T	2306942	2	4	311	1	0	0	0	0	0	0	0	1	17667	639	23	1		1	ZFYVE28	4	2306942	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1345973	2306942	188847334	163	31237											
NOP14	8602	broad.mit.edu	37	chr4	2943380	2943380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaggccccatgatggCgtggaaggatggcagggacc	18	8	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	ENST00000314262.6	-	15	2176	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_ENST00000507999.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512802.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	710					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						CCCATGATGGCGTGGAAGGAT	0.662																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(2128-2130)Gcc>Acc		NOP14 nucleolar protein							49	50	49					4																	2943380		2202	4300	6502	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|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)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2943380C>T	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.2128G>A	4.37:g.2943380C>T	ENSP00000315674:p.Ala710Thr					NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.A710T|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA	p.A710T			P78316	NOP14_HUMAN			15	2193	-			710					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.2128G>A	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059589	0.08339	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.5	3.74	0.42951	.	0.708848	0.14281	N	0.329535	T	0.15478	0.0373	N	0.04508	-0.205	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.13407	0.009;0.005	T	0.19257	-1.0311	10	0.87932	D	0	-12.7827	10.0943	0.42466	0.0:0.7861:0.1382:0.0757	.	710;710	E9PFK5;P78316	.;NOP14_HUMAN	T	710	ENSP00000405068:A710T;ENSP00000315674:A710T;ENSP00000427415:A710T;ENSP00000381146:A710T	ENSP00000315674:A710T	A	-	1	0	NOP14	2913178	0.183000	0.23186	0.005000	0.12908	0.129000	0.20672	0.548000	0.23314	0.775000	0.33450	0.655000	0.94253	GCC		0.662	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		19	33	0	0	0	1	0	19	33					T	2943380	C	T	2943380	3	4	311	1	0	0	0	0	1	0	0	0	10536	768	27	1	461	1	NOP14	4	2943380	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	636438	2943380	188210896	164	31238											
GRK4	2868	broad.mit.edu	37	chr4	3037185	3037185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtgaagcagcaccccGtgttcaaggacatcaacttc	11	12	2	1	rs547383255		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	ENST00000398052.4	+	13	1685	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000504933.1_Missense_Mutation_p.V448M|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GCAGCACCCCGTGTTCAAGGA	0.582																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1342-1344)Gtg>Atg		G protein-coupled receptor kinase 4							95	86	89					4																	3037185		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3037185G>A		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.1342G>A	4.37:g.3037185G>A	ENSP00000381129:p.Val448Met					GRK4_ENST00000504933.1_Missense_Mutation_p.V448M|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000509545.1_Intron	p.V448M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1685	+			448			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1342G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282944	0.59867	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.55	-1.31	0.09230	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.229917	0.34067	U	0.004300	T	0.19446	0.0467	N	0.16656	0.425	0.80722	D	1	D;P;D;D	0.58268	0.982;0.867;0.982;0.974	P;B;P;P	0.56865	0.596;0.344;0.615;0.808	T	0.18840	-1.0324	10	0.72032	D	0.01	-12.9327	2.1585	0.03819	0.523:0.1435:0.1886:0.145	.	416;416;448;448	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	416;448;416;448	ENSP00000381128:V416M;ENSP00000381129:V448M;ENSP00000264764:V416M;ENSP00000427445:V448M	ENSP00000264764:V416M	V	+	1	0	GRK4	3006983	0.126000	0.22350	0.065000	0.19835	0.942000	0.58702	0.599000	0.24089	-0.007000	0.14345	0.561000	0.74099	GTG		0.582	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		67	121	0	0	0	1	0	67	121					A	3037185	G	A	3037185	3	1	311	1	0	0	0	0	1	0	0	0	6791	1145	40	1	1392	1	GRK4	4	3037185	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	93805	3037185	188117091	165	31239											
MSX1	4487	broad.mit.edu	37	chr4	4864532	4864532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctggagcgcaagttcCgccagaagcagtacctgtcc	13	13	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	ENST00000382723.4	+	2	808	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	192					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)		GCGCAAGTTCCGCCAGAAGCA	0.657																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(574-576)Cgc>Tgc		msh homeobox 1							47	55	52					4																	4864532		2202	4300	6502	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864532C>T	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.574C>T	4.37:g.4864532C>T	ENSP00000372170:p.Arg192Cys					MSX1_ENST00000468421.1_3'UTR	p.R192C	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	808	+			186					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.574C>T	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587735	0.86851	.	.	ENSG00000163132	ENST00000382723	D	0.96459	-4.02	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	L	0.37750	1.13	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.96834	0.9613	10	0.87932	D	0	-7.2992	13.3187	0.60421	0.1581:0.8419:0.0:0.0	.	186	P28360	MSX1_HUMAN	C	192	ENSP00000372170:R192C	ENSP00000372170:R192C	R	+	1	0	MSX1	4915433	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.968000	0.49224	2.391000	0.81399	0.462000	0.41574	CGC		0.657	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			11	168	0	0	0	1	0	11	168					T	4864532	C	T	4864532	3	4	311	1	0	0	0	0	1	0	0	0	9895	652	23	1	580	1	MSX1	4	4864532	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1827347	4864532	186289744	166	31240											
STK32B	55351	broad.mit.edu	37	chr4	5418644	5418644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcttcctccatggctgGcaccaagccctacatgggtg	12	13	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	ENST00000282908.5	+	6	967	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Missense_Mutation_p.G135D	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(544-546)gGc>gAc		serine/threonine kinase 32B							78	66	70					4																	5418644		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5418644G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.545G>A	4.37:g.5418644G>A	ENSP00000282908:p.Gly182Asp					STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Missense_Mutation_p.G135D	p.G182D	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			6	967	+			182			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.545G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940046	0.73557	.	.	ENSG00000152953	ENST00000282908;ENST00000510398	T;T	0.41065	1.01;1.01	4.58	4.58	0.56647	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	0.38436	U	0.001692	T	0.69708	0.3141	H	0.97659	4.05	0.80722	D	1	B	0.29671	0.254	B	0.43867	0.434	T	0.77534	-0.2552	10	0.66056	D	0.02	.	15.1935	0.73067	0.0:0.0:1.0:0.0	.	182	Q9NY57	ST32B_HUMAN	D	182;135	ENSP00000282908:G182D;ENSP00000420984:G135D	ENSP00000282908:G182D	G	+	2	0	STK32B	5469545	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	6.819000	0.75262	2.244000	0.73946	0.655000	0.94253	GGC		0.493	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		3	27	0	0	0	1	0	3	27					A	5418644	G	A	5418644	3	1	311	1	0	0	0	0	1	0	0	0	15297	1203	42	2	567	2	STK32B	4	5418644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	554112	5418644	185735632	167	31241											
JAKMIP1	152789	broad.mit.edu	37	chr4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	CT	-													ggttaaatgctggcgacctcCtctctctctcctggggaaaa							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	ENST00000409021.3	-	14	2265_2266	c.1816_1817delAG	c.(1816-1818)aggfs	p.R607fs	JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0	Mediates interaction with TYK2 and GABBR1.				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						TGGCGACCTCCTCTCTCTCTCC	0.485																																						ENST00000409021.3																			0				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						c.(1816-1818)gfs		janus kinase and microtubule interacting protein 1																																				SO:0001589	frameshift_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6052396_6052397delCT	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.1816_1817delAG	4.37:g.6052404_6052405delCT	ENSP00000386711:p.Arg607fs					JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	p.R607fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			14	2265_2266	-			379			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Frame_Shift_Del	DEL	ENST00000409021.3	37	c.1816_1817delAG	CCDS47005.1																																																																																				0.485	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		3	5						3	5	---	---	---	---	-	6052397	CT	-	6052396	7	5	311	1	0	1	0	1	0	0	0	0	7940	681	24	0	710	0	JAKMIP1	4	6052396	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	633752	6052396	185101880	168	31242											
MAN2B2	23324	broad.mit.edu	37	chr4	6588894	6588894	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgcaggaggcccGggtgagtggtgtgccgcgtc	19	11	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	ENST00000285599.3	+	4	599	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAN2B2_ENST00000504248.1_Splice_Site_p.R188Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	188					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.e4+1		mannosidase, alpha, class 2B, member 2							31	31	31					4																	6588894		2203	4300	6503	SO:0001630	splice_region_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6588894G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.564+1G>A	4.37:g.6588894G>A						MAN2B2_ENST00000504248.1_Splice_Site_p.R188_splice	p.R188_splice	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			4	599	+			188					Q66MP2|Q86T67	Splice_Site	SNP	ENST00000285599.3	37	c.564_splice	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.833|3.833	-0.035439|-0.035439	0.07497|0.07497	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.73047	.|-0.71;-0.71	4.05|4.05	1.1|1.1	0.20463|0.20463	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.431473	.|0.25660	.|N	.|0.029149	T|T	0.36524|0.36524	0.0970|0.0970	N|N	0.01576|0.01576	-0.805|-0.805	0.26766|0.26766	N|N	0.969907|0.969907	.|B;B;B	.|0.09022	.|0.001;0.001;0.002	.|B;B;B	.|0.13407	.|0.005;0.005;0.009	T|T	0.27839|0.27839	-1.0062|-1.0062	5|10	.|0.16896	.|T	.|0.51	-10.1176|-10.1176	7.9454|7.9454	0.29982|0.29982	0.8234:0.0:0.1766:0.0|0.8234:0.0:0.1766:0.0	.|.	.|188;188;188	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	R|Q	187|188	.|ENSP00000285599:R188Q;ENSP00000423129:R188Q	.|ENSP00000285599:R188Q	G|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6639795|6639795	1.000000|1.000000	0.71417|0.71417	0.831000|0.831000	0.32960|0.32960	0.147000|0.147000	0.21601|0.21601	3.280000|3.280000	0.51677|0.51677	0.085000|0.085000	0.17107|0.17107	-1.141000|-1.141000	0.01876|0.01876	GGG|CGG		0.642	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	Missense_Mutation	22	42	0	0	0	1	0	22	42					A	6588894	G	A	6588894	5	1	311	1	0	0	0	0	0	0	1	0	9217	1130	39	1	577	1	MAN2B2	4	6588894	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	536498	6588894	184565382	169	31243											
HTRA3	94031	broad.mit.edu	37	chr4	8293224	8293224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgtcagcactgcccagcGggagggcagggagctgggcc	17	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	ENST00000307358.2	+	4	1040	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	279	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)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(835-837)cGg>cAg		HtrA serine peptidase 3							46	42	44					4																	8293224		2203	4299	6502	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8293224G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.836G>A	4.37:g.8293224G>A	ENSP00000303766:p.Arg279Gln					HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			4	1040	+			279			Serine protease.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.836G>A	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	g	33	5.268300	0.95429	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.90004	-2.6;-2.6	4.08	4.08	0.47627	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.96305	0.9224	10	0.87932	D	0	-27.0406	16.298	0.82784	0.0:0.0:1.0:0.0	.	279;279	P83110;P83110-2	HTRA3_HUMAN;.	Q	279	ENSP00000303766:R279Q;ENSP00000371952:R279Q	ENSP00000303766:R279Q	R	+	2	0	HTRA3	8344124	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.110000	0.94302	1.837000	0.53436	0.454000	0.30748	CGG		0.657	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		38	37	0	0	0	1	0	38	37					A	8293224	G	A	8293224	3	1	311	1	0	0	0	0	1	0	0	0	7455	1116	39	1	850	1	HTRA3	4	8293224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1704330	8293224	182861052	170	31244											
DRD5	1816	broad.mit.edu	37	chr4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcagaccttttcgtggCgctgctggtcatgccctgga	13	12	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	ENST00000304374.2	+	1	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	91					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTTTCGTGGCGCTGCTGGTC	0.632																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(271-273)gCg>gTg		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						54	49	51					4																	9783925		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783925C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.272C>T	4.37:g.9783925C>T	ENSP00000306129:p.Ala91Val						p.A91V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	668	+			91					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.272C>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	26.1	4.702768	0.88924	.	.	ENSG00000169676	ENST00000304374	T	0.37235	1.21	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.057522	0.64402	D	0.000001	T	0.71467	0.3343	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82566	-0.0393	10	0.87932	D	0	.	15.5246	0.75894	0.0:1.0:0.0:0.0	.	91	P21918	DRD5_HUMAN	V	91	ENSP00000306129:A91V	ENSP00000306129:A91V	A	+	2	0	DRD5	9393023	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.297000	0.78799	2.130000	0.65690	0.305000	0.20034	GCG		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			24	101	0	0	0	1	0	24	101					T	9783925	C	T	9783925	3	4	311	1	0	0	0	0	1	0	0	0	4760	768	27	1	274	1	DRD5	4	9783925	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1490701	9783925	181370351	171	31245											
PACRGL	133015	broad.mit.edu	37	chr4	20715162	20715162	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcatctgcttacaagCgtaagtactgcaaagattag	9	8	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	ENST00000503585.1	+	7	1000	c.609C>T	c.(607-609)agC>agT	p.S203S	PACRGL_ENST00000295290.8_Splice_Site_p.S203S|PACRGL_ENST00000502374.1_Splice_Site_p.S150S|PACRGL_ENST00000507634.1_Splice_Site_p.S203S|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000513459.1_Splice_Site_p.S150S|PACRGL_ENST00000444671.2_Splice_Site_p.S105S|PACRGL_ENST00000360916.5_Splice_Site_p.S203S|PACRGL_ENST00000538990.1_Splice_Site_p.S105S	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	203										endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.e7+1		PARK2 co-regulated-like							191	151	165					4																	20715162		2203	4300	6503	SO:0001630	splice_region_variant	133015						binding	g.chr4:20715162C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.609+1C>T	4.37:g.20715162C>T						PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Splice_Site_p.S105_splice|PACRGL_ENST00000503585.1_Splice_Site_p.S203_splice|PACRGL_ENST00000513459.1_Splice_Site_p.S150_splice|PACRGL_ENST00000507634.1_Splice_Site_p.S203_splice|PACRGL_ENST00000295290.8_Splice_Site_p.S203_splice|PACRGL_ENST00000538990.1_Splice_Site_p.S105_splice|PACRGL_ENST00000502374.1_Splice_Site_p.S150_splice	p.S203_splice	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	1000	+			230					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Splice_Site	SNP	ENST00000503585.1	37	c.609_splice	CCDS58895.1																																																																																				0.373	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048	Silent	34	53	0	0	0	1	0	34	53					T	20715162	C	T	20715162	5	4	311	1	0	0	0	0	0	0	1	0	11371	782	27	1	631	1	PACRGL	4	20715162	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10931237	20715162	170439114	172	31246											
TMEM156	80008	broad.mit.edu	37	chr4	38990512	38990512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggccttcaagtattttgCggatagtgaggatgatcaaa	11	6	3	2	rs572792495		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	ENST00000381938.3	-	4	805	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	233						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358																																						ENST00000381938.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(697-699)cGc>cAc		transmembrane protein 156							140	141	141					4																	38990512		2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:38990512C>T	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.698G>A	4.37:g.38990512C>T	ENSP00000371364:p.Arg233His						p.R233H	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN			4	805	-			233					Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.698G>A	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.932017	0.00488	.	.	ENSG00000121895	ENST00000381938	T	0.22539	1.95	5.51	3.1	0.35709	.	1.202610	0.05548	N	0.566930	T	0.08179	0.0204	N	0.02539	-0.55	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	10	0.12766	T	0.61	2.5177	4.26	0.10737	0.1757:0.0941:0.0:0.7302	.	233	Q8N614	TM156_HUMAN	H	233	ENSP00000371364:R233H	ENSP00000371364:R233H	R	-	2	0	TMEM156	38666907	0.140000	0.22579	0.487000	0.27428	0.023000	0.10783	0.025000	0.13577	0.522000	0.28464	-0.367000	0.07326	CGC		0.358	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		83	151	0	0	0	1	0	83	151					T	38990512	C	T	38990512	3	4	311	1	0	0	0	0	1	0	0	0	16070	768	27	1	204	1	TMEM156	4	38990512	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	18275350	38990512	152163764	173	31247											
STAP1	26228	broad.mit.edu	37	chr4	68447189	68447189	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtactgaaccctatgccagCgtaagtgcacaatgaactgc	9	11	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	ENST00000265404.2	+	5	612	c.530C>T	c.(529-531)gCa>gTa	p.A177V	STAP1_ENST00000396225.1_Splice_Site_p.A177V	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	177	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.e5+1		signal transducing adaptor family member 1							203	184	191					4																	68447189		2203	4300	6503	SO:0001630	splice_region_variant	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68447189C>T	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.530+1C>T	4.37:g.68447189C>T						STAP1_ENST00000396225.1_Splice_Site_p.A177_splice	p.A177_splice	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			5	612	+			177			SH2.		B2R980	Splice_Site	SNP	ENST00000265404.2	37	c.530_splice	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093078	0.36952	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.46063	0.88;0.88	5.58	-4.97	0.03029	SH2 motif (2);	0.951223	0.08837	N	0.886357	T	0.20251	0.0487	N	0.21448	0.665	0.23780	N	0.996866	B	0.11235	0.004	B	0.06405	0.002	T	0.24404	-1.0161	10	0.18276	T	0.48	-0.2905	3.8083	0.08786	0.1227:0.2014:0.1144:0.5616	.	177	Q9ULZ2	STAP1_HUMAN	V	177	ENSP00000265404:A177V;ENSP00000379527:A177V	ENSP00000265404:A177V	A	+	2	0	STAP1	68129784	0.034000	0.19679	0.933000	0.37362	0.897000	0.52465	-2.206000	0.01231	-0.678000	0.05224	-0.151000	0.13558	GCA		0.393	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108	Missense_Mutation	56	131	0	0	0	1	0	56	131					T	68447189	C	T	68447189	5	4	311	1	0	0	0	0	0	0	1	0	15251	782	27	1	548	1	STAP1	4	68447189	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	29456677	68447189	122707087	174	31248											
UGT2B11	10720	broad.mit.edu	37	chr4	70079942	70079942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagactgtacacaaaccGtatgttaagtagcgcagcca	11	10	0	1	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	ENST00000446444.1	-	1	507	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R167R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418																																						ENST00000446444.1																			1	Substitution - coding silent(1)	p.R167R(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(499-501)Cgg>Tgg		UDP glucuronosyltransferase 2 family, polypeptide B11		G	TRP/ARG	0,4406		0,0,2203	132	127	129		499	2	0	4	dbSNP_134	129	1,8597		0,1,4298	no	missense	UGT2B11	NM_001073.1	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	167/530	70079942	1,13003	2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079942G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.499C>T	4.37:g.70079942G>A	ENSP00000387683:p.Arg167Trp					RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.R167W	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	507	-			167					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.499C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.176	1.022251	0.19433	0.0	1.16E-4	ENSG00000213759	ENST00000446444	T	0.62105	0.05	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000007	T	0.41465	0.1160	N	0.24115	0.695	0.25163	N	0.990338	P	0.34757	0.467	B	0.26770	0.073	T	0.43782	-0.9370	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.0:1.0:0.0	.	167	O75310	UDB11_HUMAN	W	167	ENSP00000387683:R167W	ENSP00000387683:R167W	R	-	1	2	UGT2B11	70114531	1.000000	0.71417	0.018000	0.16275	0.005000	0.04900	6.465000	0.73538	1.087000	0.41251	0.184000	0.17185	CGG		0.418	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		51	93	0	0	0	1	0	51	93					A	70079942	G	A	70079942	3	1	311	1	0	0	0	0	1	0	0	0	16954	1144	40	1	1114	1	UGT2B11	4	70079942	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1632753	70079942	121074334	175	31249											
SHROOM3	57619	broad.mit.edu	37	chr4	77662039	77662039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagagggagcccgagtggCgggacaggcccggctcgccc	18	14	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	ENST00000296043.6	+	5	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	905					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)			GCCCGAGTGGCGGGACAGGCC	0.711																																						ENST00000296043.6																			0				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						c.(2713-2715)Cgg>Tgg		shroom family member 3							6	8	7					4																	77662039		1951	3930	5881	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662039C>T	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.2713C>T	4.37:g.77662039C>T	ENSP00000296043:p.Arg905Trp						p.R905W	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3666	+			905					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2713C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	8.856	0.945713	0.18356	.	.	ENSG00000138771	ENST00000296043	T	0.43294	0.95	4.92	-1.17	0.09648	Apx/shroom, ASD1 (1);	3.619230	0.01482	N	0.016707	T	0.31358	0.0794	L	0.29908	0.895	0.09310	N	1	P;D;P	0.56035	0.913;0.974;0.913	B;B;B	0.43990	0.438;0.438;0.438	T	0.21895	-1.0232	10	0.72032	D	0.01	0.5028	1.2305	0.01942	0.4434:0.2481:0.1108:0.1976	.	729;905;683	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	905	ENSP00000296043:R905W	ENSP00000296043:R905W	R	+	1	2	SHROOM3	77881063	0.075000	0.21258	0.002000	0.10522	0.002000	0.02628	0.299000	0.19138	-0.136000	0.11475	0.558000	0.71614	CGG		0.711	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		11	19	0	0	0	1	0	11	19					T	77662039	C	T	77662039	3	4	311	1	0	0	0	0	1	0	0	0	14295	759	27	1	2731	1	SHROOM3	4	77662039	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7582097	77662039	113492237	176	31250											
BMP2K	55589	broad.mit.edu	37	chr4	79793824	79793824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctagctcaacatcagccGtctcaacaacaggcatcacc	6	15	4	0	rs185732744	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	ENST00000335016.5	+	13	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_ENST00000502871.1_Silent_p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443													G|||	4	0.000798722	0.0	0.0	5008	,	,		19369	0.004		0.0	False		,,,				2504	0.0					ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1663-1665)ccG>ccA		BMP2 inducible kinase							150	139	143					4																	79793824		2203	4300	6503	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79793824G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1665G>A	4.37:g.79793824G>A						BMP2K_ENST00000502871.1_Silent_p.P555P	p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			13	1831	+			555			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1665G>A	CCDS47083.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	0.037	-1.301566	0.01353	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.79	3.13	0.36017	.	.	.	.	.	T	0.27027	0.0662	.	.	.	0.23056	N	0.998362	.	.	.	.	.	.	T	0.16276	-1.0408	4	.	.	.	-2.3589	7.7377	0.28823	0.1421:0.1335:0.7244:0.0	.	.	.	.	I	248	.	.	V	+	1	0	BMP2K	80012848	0.748000	0.28294	0.069000	0.20011	0.006000	0.05464	1.640000	0.37186	0.368000	0.24481	-0.229000	0.12294	GTC		0.443	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		36	63	0	0	0	1	0	36	63					A	79793824	G	A	79793824	2	1	311	1	0	0	0	0	0	0	0	1	1460	1132	40	1		1	BMP2K	4	79793824	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2131785	79793824	111360452	177	31251											
PRKG2	5593	broad.mit.edu	37	chr4	82026998	82026998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatcaaatcctcaggtcGtcgtgttatcttcctgggaa	9	11	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	ENST00000395578.1	-	16	2148	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	678	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						TCCTCAGGTCGTCGTGTTATC	0.423																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(2032-2034)Cga>Tga		protein kinase, cGMP-dependent, type II							131	125	127					4																	82026998		2203	4300	6503	SO:0001587	stop_gained	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82026998G>A	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.2032C>T	4.37:g.82026998G>A	ENSP00000378945:p.Arg678*					PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*|PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*	p.R678*			Q13237	KGP2_HUMAN			16	2148	-			678			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Nonsense_Mutation	SNP	ENST00000395578.1	37	c.2032C>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	g	39	7.320013	0.98210	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	.	.	.	5.4	1.27	0.21489	.	0.051412	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-6.5308	14.8887	0.70590	0.0:0.0:0.4439:0.5561	.	.	.	.	X	678;678;649;258	.	ENSP00000264399:R678X	R	-	1	2	PRKG2	82246022	0.051000	0.20477	0.863000	0.33907	0.890000	0.51754	-0.100000	0.10990	-0.110000	0.12022	0.484000	0.47621	CGA		0.423	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		28	121	0	0	0	1	0	28	121					A	82026998	G	A	82026998	4	1	311	1	0	0	0	0	0	1	0	0	12523	1153	40	1	272	1	PRKG2	4	82026998	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2233174	82026998	109127278	178	31252											
EGF	1950	broad.mit.edu	37	chr4	110915913	110915913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactccaccccctcacctcaGggaagatgaccaccactatt	5	17	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	ENST00000265171.5	+	20	3327	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_ENST00000509793.1_Missense_Mutation_p.R919M|RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000503392.1_Missense_Mutation_p.R920M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	961					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CCTCACCTCAGGGAAGATGAC	0.428																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2881-2883)aGg>aTg		epidermal growth factor	Sulindac(DB00605)						147	132	137					4																	110915913		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915913G>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2882G>T	4.37:g.110915913G>T	ENSP00000265171:p.Arg961Met					EGF_ENST00000509793.1_Missense_Mutation_p.R919M|EGF_ENST00000503392.1_Missense_Mutation_p.R920M	p.R961M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3327	+		Hepatocellular(203;0.0893)	961					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2882G>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461932	0.26248	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88586	-2.4;-2.32;-2.24	5.35	-1.9	0.07665	.	1.153860	0.05929	N	0.634892	T	0.77274	0.4106	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24368	0.062;0.102;0.062	B;B;B	0.17722	0.009;0.019;0.009	T	0.61633	-0.7023	10	0.34782	T	0.22	.	6.5092	0.22212	0.5185:0.0:0.3594:0.1221	.	920;919;961	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	M	919;961;920	ENSP00000424316:R919M;ENSP00000265171:R961M;ENSP00000421384:R920M	ENSP00000265171:R961M	R	+	2	0	EGF	111135362	0.003000	0.15002	0.005000	0.12908	0.214000	0.24535	0.111000	0.15458	-0.528000	0.06366	-0.140000	0.14226	AGG		0.428	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			35	152	1	0	1.90571e-15	1	1.95683e-15	35	152					T	110915913	G	T	110915913	3	4	311	1	0	0	0	0	1	0	0	0	4962	1000	35	4	2960	4	EGF	4	110915913	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28888915	110915913	80238363	179	31253											
QRFPR	84109	broad.mit.edu	37	chr4	122301462	122301462	+	Splice_Site	DEL	C	C	-													ggagcggggcgcgactcttaCcccccagccagttgtcggaa							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122301462delC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor						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						GCGACTCTTACCCCCCAGCCA	0.542																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.e1+1		pyroglutamylated RFamide peptide receptor																																				SO:0001630	splice_region_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122301462delC	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.340+1G>-	4.37:g.122301462delC						QRFPR_ENST00000334383.5_Splice_Site		NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			1	752	-									Splice_Site	DEL	ENST00000394427.2	37		CCDS3719.1																																																																																				0.542	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	Intron	8	165						8	165	---	---	---	---	-	122301462	C	-	122301462	8	5	311	1	0	1	0	1	0	0	1	0	12878	521	18	0	978	0	QRFPR	4	122301462	Splice_Site	DEL	C	TCGA-HT-8564-01A-11D-2395-08	11385549	122301462	68852814	180	31254											
TRPC3	7222	broad.mit.edu	37	chr4	122835949	122835949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaccctgctgcaaggtgCgatccagtagccaatggcca	11	12	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	ENST00000379645.3	-	4	1400	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000264811.5_Missense_Mutation_p.A370T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	358					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1108-1110)Gca>Aca		transient receptor potential cation channel, subfamily C, member 3							96	75	83					4																	122835949		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122835949C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1327G>A	4.37:g.122835949C>T	ENSP00000368966:p.Ala443Thr					TRPC3_ENST00000379645.3_Missense_Mutation_p.A443T|TRPC3_ENST00000513531.1_Intron	p.A370T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			3	1526	-			358					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1108G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069328	0.55539	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.73047	-0.71;-0.71	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.70850	0.3271	L	0.61218	1.895	0.80722	D	1	B;P	0.43885	0.364;0.82	B;B	0.39379	0.057;0.298	T	0.75545	-0.3280	10	0.62326	D	0.03	-22.9691	19.3937	0.94596	0.0:1.0:0.0:0.0	.	358;443	Q13507;Q5G1L5	TRPC3_HUMAN;.	T	370;443	ENSP00000264811:A370T;ENSP00000368966:A443T	ENSP00000264811:A370T	A	-	1	0	TRPC3	123055399	0.998000	0.40836	0.956000	0.39512	0.678000	0.39670	3.740000	0.55082	2.586000	0.87340	0.655000	0.94253	GCA		0.483	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		29	46	0	0	0	1	0	29	46					T	122835949	C	T	122835949	3	4	311	1	0	0	0	0	1	0	0	0	16576	768	27	1	1474	1	TRPC3	4	122835949	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	534487	122835949	68318327	181	31255											
SLC25A31	83447	broad.mit.edu	37	chr4	128651877	128651877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgaagcagatcagcccCgaggcgcggtacaaaggcat	13	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	ENST00000281154.4	+	1	345	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(175-177)ccC>ccT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							39	37	38					4																	128651877		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128651877C>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"Solute carriers"	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.177C>T	4.37:g.128651877C>T							p.P59P	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			1	345	+			59						Silent	SNP	ENST00000281154.4	37	c.177C>T	CCDS3733.1																																																																																				0.701	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		37	50	0	0	0	1	0	37	50					T	128651877	C	T	128651877	2	4	311	1	0	0	0	0	0	0	0	1	14495	639	23	1		1	SLC25A31	4	128651877	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5815928	128651877	62502399	182	31256											
LRBA	987	broad.mit.edu	37	chr4	151829999	151829999	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgctttctgctttgaatTtaaatgtaccctaagaatta	7	7	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	ENST00000357115.3	-	10	1415	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T|LRBA_ENST00000535741.1_Missense_Mutation_p.K391T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	391						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1171-1173)aAa>aCa		LPS-responsive vesicle trafficking, beach and anchor containing							59	56	57					4																	151829999		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151829999T>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1172A>C	4.37:g.151829999T>G	ENSP00000349629:p.Lys391Thr					LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000357115.3_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T	p.K391T			P50851	LRBA_HUMAN			10	1645	-	all_hematologic(180;0.151)		391					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1172A>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420637	0.83559	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.997;0.997	T	0.82317	-0.0517	10	0.56958	D	0.05	.	15.0673	0.72005	0.0:0.0:0.0:1.0	.	391;391;391	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	T	391	ENSP00000446299:K391T;ENSP00000421552:K391T;ENSP00000349629:K391T;ENSP00000422180:K391T	ENSP00000349629:K391T	K	-	2	0	LRBA	152049449	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.993000	0.88291	2.026000	0.59711	0.460000	0.39030	AAA		0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			19	64	0	0	0	1	0	19	64					G	151829999	T	G	151829999	3	3	311	1	0	0	0	0	1	0	0	0	8931	1841	64	5	7615	5	LRBA	4	151829999	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	23178122	151829999	39324277	183	31257											
LRBA	987	broad.mit.edu	37	chr4	151850067	151850067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcagacttgaagattccGtatgcttttcttcagaatgg	10	7	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	ENST00000357115.3	-	3	610	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W|LRBA_ENST00000535741.1_Missense_Mutation_p.R123W	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	123						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(367-369)Cgg>Tgg		LPS-responsive vesicle trafficking, beach and anchor containing							156	148	151					4																	151850067		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151850067G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.367C>T	4.37:g.151850067G>A	ENSP00000349629:p.Arg123Trp					LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000357115.3_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W	p.R123W			P50851	LRBA_HUMAN			3	840	-	all_hematologic(180;0.151)		123					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.367C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583239	0.86748	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.59772	0.66;0.81;0.66;0.24	5.81	4.89	0.63831	.	0.000000	0.64402	D	0.000004	T	0.77445	0.4131	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.998;0.999	T	0.80226	-0.1470	10	0.72032	D	0.01	.	16.8678	0.86033	0.0:0.0:0.8461:0.1539	.	123;123;123	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	W	123	ENSP00000446299:R123W;ENSP00000421552:R123W;ENSP00000349629:R123W;ENSP00000422180:R123W	ENSP00000349629:R123W	R	-	1	2	LRBA	152069517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.333000	0.65917	2.741000	0.93983	0.655000	0.94253	CGG		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			33	144	0	0	0	1	0	33	144					A	151850067	G	A	151850067	3	1	311	1	0	0	0	0	1	0	0	0	8931	1144	40	1	8448	1	LRBA	4	151850067	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20068	151850067	39304209	184	31258											
SFRP2	6423	broad.mit.edu	37	chr4	154709690	154709690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcgaggcagacgggggCgaagagcgagcacaggaact	17	9	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	ENST00000274063.4	-	1	582	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	100	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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)				CAGACGGGGGCGAAGAGCGAG	0.647																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(298-300)Gcc>Acc		secreted frizzled-related protein 2							115	126	123					4																	154709690		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709690C>T	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.298G>A	4.37:g.154709690C>T	ENSP00000274063:p.Ala100Thr						p.A100T	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	582	-	all_hematologic(180;0.093)	Renal(120;0.117)	100			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.298G>A	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394520	0.83011	.	.	ENSG00000145423	ENST00000274063	T	0.76578	-1.03	4.99	4.99	0.66335	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	L	0.54863	1.705	0.80722	D	1	D	0.65815	0.995	P	0.62491	0.903	D	0.84428	0.0575	10	0.45353	T	0.12	.	18.6303	0.91358	0.0:1.0:0.0:0.0	.	100	Q96HF1	SFRP2_HUMAN	T	100	ENSP00000274063:A100T	ENSP00000274063:A100T	A	-	1	0	SFRP2	154929140	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.685000	0.84117	2.469000	0.83416	0.655000	0.94253	GCC		0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			37	220	0	0	0	1	0	37	220					T	154709690	C	T	154709690	3	4	311	1	0	0	0	0	1	0	0	0	14162	768	27	1	601	1	SFRP2	4	154709690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2859623	154709690	36444586	185	31259											
FGB	2244	broad.mit.edu	37	chr4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggcatgttcttcagcaCgtatgacagagacaatgacg	10	10	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000509493.1_Missense_Mutation_p.T188M|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|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)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1219-1221)aCg>aTg		fibrinogen beta chain	Sucralfate(DB00364)						155	131	139					4																	155490927		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490927C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1220C>T	4.37:g.155490927C>T	ENSP00000306099:p.Thr407Met					FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.T188M	p.T407M	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1283	+	all_hematologic(180;0.215)	Renal(120;0.0458)	407			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1220C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542898	0.86022	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.91237	-2.81;-2.81	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98559	1.0640	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	390;407	B4E1D3;P02675	.;FIBB_HUMAN	M	407;390;188	ENSP00000306099:T407M;ENSP00000426757:T188M	ENSP00000306099:T407M	T	+	2	0	FGB	155710377	1.000000	0.71417	0.970000	0.41538	0.611000	0.37282	7.744000	0.85034	2.861000	0.98227	0.655000	0.94253	ACG		0.423	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		46	76	0	0	0	1	0	46	76					T	155490927	C	T	155490927	3	4	311	1	0	0	0	0	1	0	0	0	5831	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	781237	155490927	35663349	186	31260											
ACSL1	2180	broad.mit.edu	37	chr4	185724474	185724474	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctgggccctccactcacCgccacttccactgactgcat	8	18	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	ENST00000515030.1	-	2	520	c.195G>T	c.(193-195)gcG>gcT	p.A65A	ACSL1_ENST00000507295.1_Splice_Site_p.A65A|ACSL1_ENST00000513317.1_Splice_Site_p.A65A|ACSL1_ENST00000281455.2_Splice_Site_p.A65A|ACSL1_ENST00000504342.1_Splice_Site_p.A65A|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000504900.1_Splice_Site_p.A65A|ACSL1_ENST00000437665.3_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	65					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.e2+1		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						48	47	47					4																	185724474		2203	4300	6503	SO:0001630	splice_region_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185724474C>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.195+1G>T	4.37:g.185724474C>A						ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504900.1_Splice_Site_p.A65_splice|ACSL1_ENST00000281455.2_Splice_Site_p.A65_splice|ACSL1_ENST00000507295.1_Splice_Site_p.A65_splice|ACSL1_ENST00000513317.1_Splice_Site_p.A65_splice|ACSL1_ENST00000504342.1_Splice_Site_p.A65_splice	p.A65_splice			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	2	520	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	65					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Splice_Site	SNP	ENST00000515030.1	37	c.195_splice	CCDS3839.1																																																																																				0.557	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	Silent	12	15	1	0	7.03913e-09	1	7.17449e-09	12	15					A	185724474	C	A	185724474	5	1	311	1	0	0	0	0	0	0	1	0	177	666	23	4	1981	4	ACSL1	4	185724474	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30233547	185724474	5429802	187	31261											
CDH10	1008	broad.mit.edu	37	chr5	24491704	24491706	+	In_Frame_Del	DEL	GAG	GAG	-													cccagtagaatgatgatgcaGaggaggatggcgatcaaggc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	ENST00000264463.4	-	11	2362_2364	c.1855_1857delCTC	c.(1855-1857)ctcdel	p.L619del	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	619					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(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1855-1857)del		cadherin 10, type 2 (T2-cadherin)																																				SO:0001651	inframe_deletion	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491704_24491706delGAG	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1855_1857delCTC	5.37:g.24491707_24491709delGAG	ENSP00000264463:p.Leu619del	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.L619del	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2362_2364	-			619					Q9ULB3	In_Frame_Del	DEL	ENST00000264463.4	37	c.1855_1857delCTC	CCDS3892.1																																																																																				0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		55	110						55	110	---	---	---	---	-	24491706	GAG	-	24491704	7	5	311	1	0	1	0	1	0	0	0	0	3096	929	33	0	517	0	CDH10	5	24491704	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08		24491704	156423556	188	31262											
NPR3	4883	broad.mit.edu	37	chr5	32739001	32739001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagaggagacaaacaCgactttgaagctaagcaagc	12	7	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	ENST00000265074.8	+	3	1267	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_ENST00000415167.2_Silent_p.H308H|NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	308					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.H308H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428																																						ENST00000265074.8																			1	Substitution - coding silent(1)	p.H308H(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(922-924)caC>caT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						133	127	129					5																	32739001		1886	4121	6007	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739001C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.924C>T	5.37:g.32739001C>T						NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H|NPR3_ENST00000415167.2_Silent_p.H308H	p.H308H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			3	1267	+			308					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.924C>T	CCDS56357.1																																																																																				0.428	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		49	90	0	0	0	1	0	49	90					T	32739001	C	T	32739001	2	4	311	1	0	0	0	0	0	0	0	1	10596	535	19	1		1	NPR3	5	32739001	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8247297	32739001	148176259	189	31263											
AGXT2	64902	broad.mit.edu	37	chr5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacattgagggcgcaatgCgaaatgtctgaggagacacc	13	9	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:34998924C>T	ENST00000231420.6	-	14	1645	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	482					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(1444-1446)cGc>cAc		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						139	122	128					5																	34998924		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:34998924C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1445G>A	5.37:g.34998924C>T	ENSP00000231420:p.Arg482His						p.R482H	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	14	1645	-	all_lung(31;4.52e-05)		482					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1445G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776954	0.70107	.	.	ENSG00000113492	ENST00000231420	T	0.23147	1.92	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.93462	3.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.72629	-0.4235	10	0.87932	D	0	-7.0348	16.2556	0.82516	0.0:1.0:0.0:0.0	.	407;482	E9PDL7;Q9BYV1	.;AGT2_HUMAN	H	482	ENSP00000231420:R482H	ENSP00000231420:R482H	R	-	2	0	AGXT2	35034681	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	4.624000	0.61254	2.619000	0.88677	0.557000	0.71058	CGC		0.368	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		26	37	0	0	0	1	0	26	37					T	34998924	C	T	34998924	3	4	311	1	0	0	0	0	1	0	0	0	405	768	27	1	103	1	AGXT2	5	34998924	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2259923	34998924	145916336	190	31264											
CARD6	84674	broad.mit.edu	37	chr5	40854138	40854138	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accctcagtcctttcaaccaGcagcagccacacaaaaacta	4	16	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	ENST00000254691.5	+	3	2903	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	902					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						CTTTCAACCAGCAGCAGCCAC	0.483																																						ENST00000254691.5																			0				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						c.(2704-2706)Gca>Cca		caspase recruitment domain family, member 6							84	90	88					5																	40854138		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854138G>C	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.2704G>C	5.37:g.40854138G>C	ENSP00000254691:p.Ala902Pro					CARD6_ENST00000381677.3_Intron	p.A902P	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2903	+			902					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2704G>C	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260415	0.80246	.	.	ENSG00000132357	ENST00000254691	T	0.13196	2.61	4.05	2.22	0.28083	.	0.281128	0.25768	N	0.028432	T	0.15262	0.0368	L	0.27053	0.805	0.26906	N	0.967012	D	0.64830	0.994	P	0.55824	0.785	T	0.04320	-1.0960	10	0.56958	D	0.05	-3.628	6.8707	0.24119	0.2197:0.0:0.7803:0.0	.	902	Q9BX69	CARD6_HUMAN	P	902	ENSP00000254691:A902P	ENSP00000254691:A902P	A	+	1	0	CARD6	40889895	0.000000	0.05858	0.838000	0.33150	0.789000	0.44602	-0.487000	0.06505	0.459000	0.27016	0.313000	0.20887	GCA		0.483	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			73	119	0	0	0	1	0	73	119					C	40854138	G	C	40854138	3	2	311	1	0	0	0	0	1	0	0	0	2650	971	34	4	2714	4	CARD6	5	40854138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5855214	40854138	140061122	191	31265											
C6	729	broad.mit.edu	37	chr5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggattattgcattctcGggttctcgatctcttataag	10	8	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000337836.5_Nonsense_Mutation_p.R587*|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3. {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)				TTGCATTCTCGGGTTCTCGAT	0.493																																						ENST00000263413.3																			0				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						c.(1759-1761)Cga>Tga		complement component 6							100	105	103					5																	41159281		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159281G>A	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.1759C>T	5.37:g.41159281G>A	ENSP00000263413:p.Arg587*					C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2023	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	587			TSP type-1 3.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1759C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.524488	0.97637	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.53	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5176	13.4668	0.61258	0.0:0.0:0.7152:0.2848	.	.	.	.	X	587	.	ENSP00000263413:R587X	R	-	1	2	C6	41195038	1.000000	0.71417	0.895000	0.35142	0.041000	0.13682	2.721000	0.47260	1.531000	0.49152	0.650000	0.86243	CGA		0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			58	80	0	0	0	1	0	58	80					A	41159281	G	A	41159281	4	1	311	1	0	0	0	0	0	1	0	0	2315	1124	39	1	1073	1	C6	5	41159281	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	305143	41159281	139755979	192	31266											
MIER3	166968	broad.mit.edu	37	chr5	56231270	56231270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttacctttctcattaccatCgtactctccaagataagggg	6	12	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	ENST00000381199.3	-	7	590	c.580G>A	c.(580-582)Gat>Aat	p.D194N	MIER3_ENST00000381213.3_Missense_Mutation_p.D194N|MIER3_ENST00000381226.3_Missense_Mutation_p.D199N|MIER3_ENST00000409421.1_Missense_Mutation_p.D131N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	194	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.(595-597)Gat>Aat		mesoderm induction early response 1, family member 3							119	119	119					5																	56231270		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56231270C>T	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.580G>A	5.37:g.56231270C>T	ENSP00000370596:p.Asp194Asn					MIER3_ENST00000381199.3_Missense_Mutation_p.D194N|MIER3_ENST00000409421.1_Missense_Mutation_p.D131N|MIER3_ENST00000381213.3_Missense_Mutation_p.D194N	p.D199N			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	7	610	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	194			ELM2.		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	C	10.46	1.356103	0.24598	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	6.11	1.0	0.19881	ELM2 domain (2);	0.859126	0.11073	N	0.602728	T	0.11239	0.0274	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.29941	-0.9995	10	0.20046	T	0.44	-23.5309	1.1178	0.01718	0.1631:0.2166:0.1615:0.4588	.	194;199;194	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	N	199;194;194;131	ENSP00000370624:D199N;ENSP00000370611:D194N;ENSP00000370596:D194N;ENSP00000386584:D131N	ENSP00000370596:D194N	D	-	1	0	MIER3	56267027	0.977000	0.34250	0.144000	0.22314	0.731000	0.41821	1.431000	0.34925	0.254000	0.21573	0.655000	0.94253	GAT		0.313	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		26	121	0	0	0	1	0	26	121					T	56231270	C	T	56231270	3	4	311	1	0	0	0	0	1	0	0	0	9582	884	31	1	1097	1	MIER3	5	56231270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	15071989	56231270	124683990	193	31267											
CENPK	64105	broad.mit.edu	37	chr5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcaaggcaattccattaCgcagcagcagctcaacataa	7	12	2	0	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000510693.1_Missense_Mutation_p.R185H|CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000506282.2_5'Flank	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353																																						ENST00000396679.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(742-744)cGt>cAt		centromere protein K		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111	109	109		743	4	1	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	CENPK	NM_022145.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	248/270	64814369	2,13004	2203	4300	6503	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64814369C>T	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.743G>A	5.37:g.64814369C>T	ENSP00000379911:p.Arg248His					CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H	p.R248H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	11	957	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	248					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.743G>A	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582695	0.86748	2.27E-4	1.16E-4	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	3.98	0.46160	.	0.054076	0.64402	D	0.000001	T	0.51432	0.1674	M	0.65498	2.005	0.50171	D	0.999855	P	0.37276	0.589	B	0.30105	0.111	T	0.54636	-0.8264	9	0.72032	D	0.01	-1.8585	11.2414	0.48972	0.1276:0.8065:0.0:0.0659	.	248	Q9BS16	CENPK_HUMAN	H	248;248;248;218;185	.	ENSP00000242872:R248H	R	-	2	0	CENPK	64850125	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	6.220000	0.72237	0.773000	0.33404	0.557000	0.71058	CGT		0.353	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		35	77	0	0	0	1	0	35	77					T	64814369	C	T	64814369	3	4	311	1	0	0	0	0	1	0	0	0	3235	536	19	1	70	1	CENPK	5	64814369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8583099	64814369	116100891	194	31268											
ERBB2IP	55914	broad.mit.edu	37	chr5	65371013	65371014	+	Frame_Shift_Ins	INS	-	-	C													accagcctccatatacacagINSccccattgttctcctagaca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	ENST00000284037.5	+	23	4307_4308	c.3918_3919insC	c.(3919-3921)cccfs	p.P1307fs	ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.P1255fs|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P505fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1314fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1262fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000503913.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1307					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3916-3921)cacccafs		erbb2 interacting protein																																				SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65371013_65371014insC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3922dupC	5.37:g.65371017_65371017dupC	ENSP00000284037:p.Pro1307fs					ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.HP504fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.HP1261fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.HP1254fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.HP1313fs	p.HP1306fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4307_4308	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1306					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Ins	INS	ENST00000284037.5	37	c.3918_3919insC	CCDS58953.1																																																																																				0.421	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		27	230						27	230	---	---	---	---	C	65371014	-	C	65371013	7	5	311	1	0	1	1	0	0	0	0	0	5207	962	34	0	3873	0	ERBB2IP	5	65371013	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	556644	65371013	115544247	195	31269											
SLC30A5	64924	broad.mit.edu	37	chr5	68413208	68413208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaggtggaaagccactcGgattttctcctatgggtagg	14	7	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	ENST00000396591.3	+	11	2034	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	475					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1423-1425)cGg>cAg		solute carrier family 30 (zinc transporter), member 5							137	126	129					5																	68413208		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68413208G>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1424G>A	5.37:g.68413208G>A	ENSP00000379836:p.Arg475Gln					CTC-498J12.3_ENST00000504129.1_RNA	p.R475Q	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	11	2034	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	475					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1424G>A	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589776	0.86851	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.61980	0.06	5.44	5.44	0.79542	.	0.092091	0.64402	D	0.000002	T	0.56001	0.1956	L	0.47078	1.49	0.80722	D	1	B;B;P	0.38551	0.069;0.449;0.636	B;B;B	0.31390	0.094;0.119;0.129	T	0.61724	-0.7004	10	0.59425	D	0.04	.	19.041	0.92999	0.0:0.0:1.0:0.0	.	304;304;475	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	Q	475;88	ENSP00000379836:R475Q	ENSP00000379836:R475Q	R	+	2	0	SLC30A5	68448964	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.802000	0.85969	2.835000	0.97688	0.591000	0.81541	CGG		0.413	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			65	93	0	0	0	1	0	65	93					A	68413208	G	A	68413208	3	1	311	1	0	0	0	0	1	0	0	0	14558	1116	39	1	1554	1	SLC30A5	5	68413208	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3042195	68413208	112502052	196	31270											
MARVELD2	153562	broad.mit.edu	37	chr5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactgaatttggaattaacGttgccttgtttattttgtat	7	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	ENST00000325631.5	+	2	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	298	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(892-894)Gtt>Att		MARVEL domain containing 2							167	159	162					5																	68716104		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68716104G>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.892G>A	5.37:g.68716104G>A	ENSP00000323264:p.Val298Ile					MARVELD2_ENST00000413223.2_Intron	p.V298I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	966	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	298			MARVEL.		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.892G>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449408	0.26074	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803	T;T;T	0.58940	0.3;0.3;0.3	5.37	3.59	0.41128	Marvel (1);MARVEL-like domain (1);	0.210011	0.41938	N	0.000798	T	0.40222	0.1108	N	0.25144	0.715	0.80722	D	1	B;B;B	0.20052	0.041;0.017;0.011	B;B;B	0.15052	0.012;0.009;0.011	T	0.16837	-1.0389	10	0.42905	T	0.14	-44.2595	8.6506	0.34033	0.2391:0.0:0.7609:0.0	.	298;298;298	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	I	298	ENSP00000323264:V298I;ENSP00000396244:V298I;ENSP00000423490:V298I	ENSP00000282886:V298I	V	+	1	0	MARVELD2	68751860	0.432000	0.25554	0.017000	0.16124	0.943000	0.58893	0.786000	0.26844	0.656000	0.30886	0.655000	0.94253	GTT		0.423	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		56	112	0	0	0	1	0	56	112					A	68716104	G	A	68716104	3	1	311	1	0	0	0	0	1	0	0	0	9318	1145	40	1	894	1	MARVELD2	5	68716104	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	302896	68716104	112199156	197	31271											
PDE8B	8622	broad.mit.edu	37	chr5	76649192	76649192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattaggcattttgtctcGctcaagaaactgtgttgtac	8	7	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	ENST00000264917.5	+	10	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000342343.4_Silent_p.S356S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	376					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)	ATTTTGTCTCGCTCAAGAAAC	0.368																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				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						c.(1126-1128)tcG>tcA		phosphodiesterase 8B							204	181	189					5																	76649192		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76649192G>A	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.1128G>A	5.37:g.76649192G>A						PDE8B_ENST00000342343.4_Silent_p.S356S|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron	p.S376S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	10	1173	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	376					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.1128G>A	CCDS4037.1																																																																																				0.368	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		24	43	0	0	0	1	0	24	43					A	76649192	G	A	76649192	2	1	311	1	0	0	0	0	0	0	0	1	11654	1074	38	1		1	PDE8B	5	76649192	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7933088	76649192	104266068	198	31272											
ZCCHC9	84240	broad.mit.edu	37	chr5	80604490	80604490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgggtccacagagcaCgaaataaccaagtgtaaggc	13	8	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	ENST00000254037.2	+	2	3650	c.495C>T	c.(493-495)caC>caT	p.H165H	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.H165H|ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000438268.2_Silent_p.H165H			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	165					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(493-495)caC>caT		zinc finger, CCHC domain containing 9							96	97	97					5																	80604490		2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80604490C>T	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.495C>T	5.37:g.80604490C>T						ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000438268.2_Silent_p.H165H|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.H165H	p.H165H			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	2	3650	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	165					B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.495C>T	CCDS4054.1																																																																																				0.448	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		38	54	0	0	0	1	0	38	54					T	80604490	C	T	80604490	2	4	311	1	0	0	0	0	0	0	0	1	17592	535	19	1		1	ZCCHC9	5	80604490	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3955298	80604490	100310770	199	31273											
PPIP5K2	23262	broad.mit.edu	37	chr5	102537324	102537324	+	Frame_Shift_Del	DEL	A	A	-													aacacaaaaaaaacactgggAaaaagaaatgaaatcttagc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	ENST00000358359.3	+	31	4230	c.3721delA	c.(3721-3723)aaafs	p.K1243fs	PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000321521.9_Frame_Shift_Del_p.K1222fs	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1243					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						AAACACTGGGAAAAAGAAATG	0.313																																						ENST00000321521.9																			0				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						c.(3658-3660)aafs		diphosphoinositol pentakisphosphate kinase 2							64	68	67					5																	102537324		2203	4299	6502	SO:0001589	frameshift_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102537324delA	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.3721delA	5.37:g.102537324delA	ENSP00000351126:p.Lys1243fs					PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000358359.3_Frame_Shift_Del_p.K1243fs	p.K1222fs			O43314	VIP2_HUMAN			30	4231	+			1243					A1NI53|A6NGS8|Q8TB50	Frame_Shift_Del	DEL	ENST00000358359.3	37	c.3658delA																																																																																					0.313	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		13	15						13	15	---	---	---	---	-	102537324	A	-	102537324	7	5	311	1	0	1	0	1	0	0	0	0	12333	247	9	0	3772	0	PPIP5K2	5	102537324	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	21932834	102537324	78377936	200	31274											
MCC	4163	broad.mit.edu	37	chr5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-													ttggtgtgtggcctggagttCtcctcctctagcagagctat							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	ENST00000302475.4	-	17	3015_3017	c.2452_2454delGAG	c.(2452-2454)gagdel	p.E818del	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del|MCC_ENST00000515367.2_In_Frame_Del_p.E755del	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					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)		GCCTGGAGTTCTCCTCCTCTAGC	0.507																																						ENST00000302475.4																			0				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						c.(2452-2454)del		mutated in colorectal cancers																																				SO:0001651	inframe_deletion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112363035_112363037delCTC		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.2452_2454delGAG	5.37:g.112363041_112363043delCTC	ENSP00000305617:p.Glu818del					MCC_ENST00000515367.2_In_Frame_Del_p.E755del|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del|MCC_ENST00000514701.3_5'UTR	p.E818del	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		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)	17	3015_3017	-		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)	818					D3DT05|Q6ZR04	In_Frame_Del	DEL	ENST00000302475.4	37	c.2452_2454delGAG	CCDS4111.1																																																																																				0.507	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		52	90						52	90	---	---	---	---	-	112363037	CTC	-	112363035	7	5	311	1	0	1	0	1	0	0	0	0	9373	912	32	0	39	0	MCC	5	112363035	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	9825711	112363035	68552225	201	31275											
KIF3A	11127	broad.mit.edu	37	chr5	132051569	132051569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagcacgattggcataccGtaatgtactgatagtttcat	8	8	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	ENST00000378746.4	-	8	1227	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	337	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.R337W(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328																																						ENST00000378746.4																			2	Substitution - Missense(2)	p.R337W(2)	large_intestine(2)	endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1009-1011)Cgg>Tgg		kinesin family member 3A							61	58	59					5																	132051569		2202	4297	6499	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132051569G>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1009C>T	5.37:g.132051569G>A	ENSP00000368020:p.Arg337Trp					KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W|AC004237.1_ENST00000431165.1_RNA	p.R337W	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1227	-		all_cancers(142;0.0751)|Breast(839;0.198)	337			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1009C>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411505	0.83340	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.77750	-1.12;-1.12;-1.12	5.82	5.82	0.92795	Kinesin, motor domain (3);	0.051984	0.85682	D	0.000000	D	0.92841	0.7723	H	0.98951	4.38	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;0.999;1.0;0.997	D	0.94909	0.8063	10	0.87932	D	0	.	14.0014	0.64436	0.0:0.0:0.7483:0.2517	.	337;337;337;337	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	W	337;337;337;337;307	ENSP00000368020:R337W;ENSP00000368009:R337W;ENSP00000385808:R337W	ENSP00000368009:R337W	R	-	1	2	KIF3A	132079468	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.717000	0.54911	2.756000	0.94617	0.563000	0.77884	CGG		0.328	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		7	22	0	0	0	1	0	7	22					A	132051569	G	A	132051569	3	1	311	1	0	0	0	0	1	0	0	0	8300	1144	40	1	1130	1	KIF3A	5	132051569	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19688534	132051569	48863691	202	31276											
KDM3B	51780	broad.mit.edu	37	chr5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-													cagtaaaatcttccaaaggaAagaagaagagagaaagcata							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	ENST00000314358.5	+	7	1017_1019	c.817_819delAAG	c.(817-819)aagdel	p.K275del	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	275					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						TTCCAAAGGAAAGAAGAAGAGAG	0.419																																						ENST00000314358.5																			0				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						c.(817-819)del		lysine (K)-specific demethylase 3B																																				SO:0001651	inframe_deletion	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721747_137721749delAAG	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.817_819delAAG	5.37:g.137721753_137721755delAAG	ENSP00000326563:p.Lys275del						p.K275del	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1017_1019	+			275					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	In_Frame_Del	DEL	ENST00000314358.5	37	c.817_819delAAG	CCDS34242.1																																																																																				0.419	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		65	142						65	142	---	---	---	---	-	137721749	AAG	-	137721747	7	5	311	1	0	1	0	1	0	0	0	0	8127	15	1	0	843	0	KDM3B	5	137721747	In_Frame_Del	DEL	AAG	TCGA-HT-8564-01A-11D-2395-08	5670178	137721747	43193513	203	31277											
PSD2	84249	broad.mit.edu	37	chr5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	AA	-													gccagacttgaacattctggAagattcagcggagtccaggc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	ENST00000274710.3	+	2	477_478	c.272_273delAA	c.(271-273)gaafs	p.E91fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	91					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(271-273)gfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189297_139189298delAA	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.272_273delAA	5.37:g.139189297_139189298delAA	ENSP00000274710:p.Glu91fs						p.E91fs	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	477_478	+			91					D3DQD3|Q8N3J8	Frame_Shift_Del	DEL	ENST00000274710.3	37	c.272_273delAA	CCDS4216.1																																																																																				0.619	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		77	150						77	150	---	---	---	---	-	139189298	AA	-	139189297	7	5	311	1	0	1	0	1	0	0	0	0	12647	246	9	0	274	0	PSD2	5	139189297	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1467550	139189297	41725963	204	31278											
TMCO6	55374	broad.mit.edu	37	chr5	140021557	140021557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagctctctcactccgaGcagtccactgttgctgaggc	10	14	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	ENST00000394671.3	+	4	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000252100.6_Silent_p.E139E|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000511410.1_3'UTR	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	139					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(415-417)gaG>gaA		transmembrane and coiled-coil domains 6							76	79	78					5																	140021557		2074	4202	6276	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140021557G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.417G>A	5.37:g.140021557G>A						TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.E139E|TMCO6_ENST00000511410.1_3'UTR	p.E139E	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	518	+			139					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.417G>A	CCDS4233.2																																																																																				0.617	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		36	167	0	0	0	1	0	36	167					A	140021557	G	A	140021557	2	1	311	1	0	0	0	0	0	0	0	1	15997	962	34	2		2	TMCO6	5	140021557	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	832260	140021557	40893703	205	31279											
PCDHA6	56142	broad.mit.edu	37	chr5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcctgctggtcctcaCgctactgctgtacacagcgc	9	16	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_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	714					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)	p.T714M(2)		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)			CTGGTCCTCACGCTACTGCTG	0.706																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.T714M(2)	breast(2)	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						c.(2140-2142)aCg>aTg									56	56	56					5																	140209817		2201	4298	6499	SO:0001583	missense	0							g.chr5:140209817C>T	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.2141C>T	5.37:g.140209817C>T	ENSP00000433378:p.Thr714Met					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	p.T714M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2255	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2141C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601231	0.13939	.	.	ENSG00000081842	ENST00000529310	T	0.14516	2.5	4.12	-1.33	0.09172	.	0.217169	0.21872	U	0.067861	T	0.17023	0.0409	M	0.93978	3.48	0.09310	N	0.999999	B;P	0.51537	0.255;0.946	B;B	0.37304	0.052;0.246	T	0.23547	-1.0185	10	0.72032	D	0.01	.	3.1076	0.06347	0.1215:0.5406:0.1185:0.2195	.	714;714	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	714	ENSP00000433378:T714M	ENSP00000433378:T714M	T	+	2	0	PCDHA6	140190001	.	.	0.240000	0.24138	0.022000	0.10575	.	.	-0.081000	0.12662	-0.683000	0.03753	ACG		0.706	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		81	128	0	0	0	1	0	81	128					T	140209817	C	T	140209817	3	4	311	1	0	0	0	0	1	0	0	0	11528	536	19	1	2143	1	PCDHA6	5	140209817	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	188260	140209817	40705443	206	31280											
PCDHA12	56137	broad.mit.edu	37	chr5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-													ctaaatgagaattttgagctTaaaataaaaacaaaaaaaga							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	ENST00000398631.2	+	1	540_544	c.540_544delTAAAA	c.(538-546)cttaaaatafs	p.KI181fs	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	181	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)	p.L180L(1)		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)			ATTTTGAGCTTAAAATAAAAACAAA	0.366																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			1	Substitution - coding silent(1)	p.L180L(1)	kidney(1)	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						c.(538-546)cttafs																																						SO:0001589	frameshift_variant	0							g.chr5:140255597_140255601delTAAAA	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.540_544delTAAAA	5.37:g.140255602_140255606delTAAAA	ENSP00000381628:p.Lys181fs					PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron	p.LKI180fs	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	540_544	+								O75278|Q2M1N8	Frame_Shift_Del	DEL	ENST00000398631.2	37	c.540_544delTAAAA	CCDS47285.1																																																																																				0.366	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		20	82						20	82	---	---	---	---	-	140255601	TAAAA	-	140255597	7	5	311	1	0	1	0	1	0	0	0	0	11522	1741	61	0	542	0	PCDHA12	5	140255597	Frame_Shift_Del	DEL	TAAAA	TCGA-HT-8564-01A-11D-2395-08	45780	140255597	40659663	207	31281											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769478	140769478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccggatatcactgaccGccccgacccctctgacctcc	8	20	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	ENST00000519479.1	+	1	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	676					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(2026-2028)cGc>cAc									129	140	136					5																	140769478		2155	4250	6405	SO:0001583	missense	0							g.chr5:140769478G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2027G>A	5.37:g.140769478G>A	ENSP00000428288:p.Arg676His					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R676H	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2027	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2027G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.405307	0.25378	.	.	ENSG00000253953	ENST00000519479	T	0.50813	0.73	5.4	-5.79	0.02354	.	.	.	.	.	T	0.32255	0.0823	L	0.49256	1.55	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.002	T	0.30736	-0.9968	9	0.15066	T	0.55	.	6.4245	0.21762	0.5144:0.0:0.2933:0.1923	.	676;676	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	676	ENSP00000428288:R676H	ENSP00000428288:R676H	R	+	2	0	PCDHGB4	140749662	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.187000	0.16998	-1.289000	0.02375	-0.251000	0.11542	CGC		0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		15	279	0	0	0	1	0	15	279					A	140769478	G	A	140769478	3	1	311	1	0	0	0	0	1	0	0	0	11565	1087	38	1	2029	1	PCDHGB4	5	140769478	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	513881	140769478	40145782	208	31282											
ARAP3	64411	broad.mit.edu	37	chr5	141035270	141035270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatagtgccaaacttctgaCgggcaaggtcagaggaggaa	14	8	2	2	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	ENST00000239440.4	-	31	4093	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1343					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(4027-4029)cGt>cAt		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	93	84	87		4028	3.9	1	5	dbSNP_134	87	0,8600		0,0,4300	no	missense	ARAP3	NM_022481.5	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1343/1545	141035270	2,13004	2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035270C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4028G>A	5.37:g.141035270C>T	ENSP00000239440:p.Arg1343His					ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H	p.R1343H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			31	4093	-			1343					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4028G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607261	0.66558	4.54E-4	0.0	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.15017	2.46;3.17;3.01	5.66	3.87	0.44632	.	0.055468	0.64402	D	0.000002	T	0.07954	0.0199	N	0.24115	0.695	0.36709	D	0.880554	B;P;B	0.38745	0.014;0.645;0.078	B;B;B	0.25884	0.003;0.064;0.016	T	0.27468	-1.0073	10	0.42905	T	0.14	.	5.9245	0.19101	0.0:0.6463:0.0:0.3537	.	1005;1174;1343	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	H	1174;1343;1005	ENSP00000421826:R1174H;ENSP00000239440:R1343H;ENSP00000421468:R1005H	ENSP00000239440:R1343H	R	-	2	0	ARAP3	141015454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.544000	0.53640	1.397000	0.46682	0.655000	0.94253	CGT		0.597	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		41	70	0	0	0	1	0	41	70					T	141035270	C	T	141035270	3	4	311	1	0	0	0	0	1	0	0	0	840	536	19	1	618	1	ARAP3	5	141035270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	265792	141035270	39879990	209	31283											
SYNPO	11346	broad.mit.edu	37	chr5	150029450	150029450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcccgaagcccagcccGgaccccgcctgcctccctct	9	22	1	0	rs368637681		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	ENST00000394243.1	+	3	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q|SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	782	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2344-2346)cGg>cAg		synaptopodin		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	52	69	64		1613,2345,2345,1613	5.1	0.5	5		64	0,8596		0,0,4298	no	missense,missense,missense,missense	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	43,43,43,43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	538/686,782/930,782/930,538/904	150029450	1,13001	2203	4298	6501	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029450G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2345G>A	5.37:g.150029450G>A	ENSP00000377789:p.Arg782Gln					SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q|SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q	p.R782Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2719	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	782			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2345G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230516	0.58777	2.27E-4	0.0	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.25749	1.78;1.78;1.83	5.06	5.06	0.68205	.	0.000000	0.44902	D	0.000411	T	0.23649	0.0572	L	0.36672	1.1	0.20196	N	0.999923	P;D	0.56287	0.803;0.975	B;P	0.47941	0.307;0.562	T	0.11060	-1.0603	10	0.15066	T	0.55	-20.9209	11.557	0.50755	0.0832:0.0:0.9168:0.0	.	538;782	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	Q	782;782;538;538	ENSP00000377789:R782Q;ENSP00000428378:R782Q;ENSP00000429268:R538Q	ENSP00000302139:R538Q	R	+	2	0	SYNPO	150009643	0.795000	0.28851	0.508000	0.27688	0.966000	0.64601	2.234000	0.43035	2.363000	0.80096	0.462000	0.41574	CGG		0.687	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		55	211	0	0	0	1	0	55	211					A	150029450	G	A	150029450	3	1	311	1	0	0	0	0	1	0	0	0	15453	1116	39	1	2351	1	SYNPO	5	150029450	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8994180	150029450	30885810	210	31284											
SLC36A1	206358	broad.mit.edu	37	chr5	150856223	150856223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctgggcatggtcatcGtcaccatcctctacatcagc	8	14	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	ENST00000243389.3	+	9	1118	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I|RNA5SP197_ENST00000363357.1_RNA	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	299					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CATGGTCATCGTCACCATCCT	0.517																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(895-897)Gtc>Atc		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						166	135	146					5																	150856223		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150856223G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.895G>A	5.37:g.150856223G>A	ENSP00000243389:p.Val299Ile					SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I	p.V299I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1118	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	299					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.895G>A	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717226	0.15372	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.02525	4.26;4.26;4.26;4.26	5.76	-7.42	0.01388	.	0.559992	0.19689	N	0.108324	T	0.02455	0.0075	N	0.25031	0.7	0.24431	N	0.994573	B;B	0.16603	0.018;0.008	B;B	0.23716	0.048;0.03	T	0.18840	-1.0324	10	0.39692	T	0.17	.	19.4373	0.94801	0.1571:0.0:0.8429:0.0	.	299;299	E7EW39;Q7Z2H8	.;S36A1_HUMAN	I	299;299;299;299;58	ENSP00000428140:V299I;ENSP00000243389:V299I;ENSP00000430305:V299I;ENSP00000428738:V58I	ENSP00000243389:V299I	V	+	1	0	SLC36A1	150836416	0.579000	0.26725	0.002000	0.10522	0.002000	0.02628	0.863000	0.27913	-1.611000	0.01581	-0.136000	0.14681	GTC		0.517	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		54	82	0	0	0	1	0	54	82					A	150856223	G	A	150856223	3	1	311	1	0	0	0	0	1	0	0	0	14593	1145	40	1	925	1	SLC36A1	5	150856223	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	826773	150856223	30059037	211	31285											
ODZ2	57451	broad.mit.edu	37	chr5	167689238	167689238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaagggcgggtgaccaCgggcgtgtccagcatcgcca	15	12	0	2	rs374910592		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:167689238C>T	ENST00000518659.1	+	29	7787	c.7748C>T	c.(7747-7749)aCg>aTg	p.T2583M	TENM2_ENST00000403607.2_Missense_Mutation_p.T2407M|TENM2_ENST00000545108.1_Missense_Mutation_p.T2582M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2344M|TENM2_ENST00000519204.1_Missense_Mutation_p.T2462M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2583					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)										CGGGTGACCACGGGCGTGTCC	0.572																																						ENST00000519204.1																			0											c.(7384-7386)aCg>aTg		teneurin transmembrane protein 2		C	MET/THR	0,4090		0,0,2045	30	34	32		7721	5.4	1	5		32	1,8409		0,1,4204	no	missense	ODZ2	NM_001122679.1	81	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	2574/2766	167689238	1,12499	2045	4205	6250	SO:0001583	missense	57451							g.chr5:167689238C>T	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.7748C>T	5.37:g.167689238C>T	ENSP00000429430:p.Thr2583Met					TENM2_ENST00000545108.1_Missense_Mutation_p.T2582M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2407M|TENM2_ENST00000518659.1_Missense_Mutation_p.T2583M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2344M	p.T2462M							28	7503	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7385C>T		.	.	.	.	.	.	.	.	.	.	C	19.41	3.821440	0.71028	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90069	-2.14;-2.13;-2.24;-2.59;-2.61	5.42	5.42	0.78866	.	0.045731	0.85682	D	0.000000	D	0.93115	0.7808	L	0.52011	1.625	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.76071	0.987;0.97;0.855	D	0.93359	0.6725	10	0.72032	D	0.01	.	19.5868	0.95493	0.0:1.0:0.0:0.0	.	2582;2583;2344	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	2583;2582;2462;2344;2407	ENSP00000429430:T2583M;ENSP00000438635:T2582M;ENSP00000428964:T2462M;ENSP00000427874:T2344M;ENSP00000384905:T2407M	ENSP00000384905:T2407M	T	+	2	0	ODZ2	167621816	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.580000	0.82523	2.694000	0.91930	0.655000	0.94253	ACG		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	11	0	0	0	1	0	4	11					T	167689238	C	T	167689238	3	4	311	1	0	0	0	0	1	0	0	0	10835	536	19	1	7835	1	ODZ2	5	167689238	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16833015	167689238	13226022	212	31286											
HIGD2A	192286	broad.mit.edu	37	chr5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	AG	-													cccactgtttacaggaatccAgagagtttcaaggaaaagtt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	ENST00000274787.2	+	1	169_170	c.96_97delAG	c.(94-99)ccagagfs	p.E33fs	NOP16_ENST00000509257.1_5'Flank|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000389158.5_5'UTR|NOP16_ENST00000510123.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	33	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564																																						ENST00000274787.2																			0				large_intestine(1)	1						c.(94-99)ccagfs		HIG1 hypoxia inducible domain family, member 2A																																				SO:0001589	frameshift_variant	192286					integral to membrane		g.chr5:175815916_175815917delAG	BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"HIG1 domain family, member 2A"			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.96_97delAG	5.37:g.175815920_175815921delAG	ENSP00000274787:p.Glu33fs					NOP16_ENST00000389158.5_5'UTR	p.PE32fs	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	1	169_170	+	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	32			HIG1.			Frame_Shift_Del	DEL	ENST00000274787.2	37	c.96_97delAG	CCDS4401.1																																																																																				0.564	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820		94	154						94	154	---	---	---	---	-	175815917	AG	-	175815916	7	5	311	1	0	1	0	1	0	0	0	0	7109	175	7	0	98	0	HIGD2A	5	175815916	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	8126678	175815916	5099344	213	31287											
GPRIN1	114787	broad.mit.edu	37	chr5	176025905	176025905	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccccggctctgtctttcCtgtggacgcagaatccatgc	11	14	2	1	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	ENST00000303991.4	-	2	1108	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	311					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(931-933)Gga>Tga		G protein regulated inducer of neurite outgrowth 1							64	72	69					5																	176025905		2203	4300	6503	SO:0001587	stop_gained	114787					growth cone|plasma membrane		g.chr5:176025905C>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.931G>T	5.37:g.176025905C>A	ENSP00000305839:p.Gly311*						p.G311*	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1108	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	311					C9JM70|Q8ND74|Q96PZ4	Nonsense_Mutation	SNP	ENST00000303991.4	37	c.931G>T	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075303	0.94000	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	.	.	.	5.14	3.35	0.38373	.	1.289510	0.05834	N	0.618064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	0.3884	9.1578	0.37002	0.0:0.8203:0.0:0.1797	.	.	.	.	X	311	.	ENSP00000305839:G311X	G	-	1	0	GPRIN1	175958511	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.282000	0.33226	0.558000	0.29135	0.462000	0.41574	GGA		0.572	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		64	115	1	0	6.75472e-32	1	6.96707e-32	64	115					A	176025905	C	A	176025905	4	1	311	1	0	0	0	0	0	1	0	0	6729	690	24	4	2099	4	GPRIN1	5	176025905	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	209989	176025905	4889355	214	31288											
SNCB	6620	broad.mit.edu	37	chr5	176056600	176056600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgcttggttttctccGcggctgccacaacgccctcc	8	20	1	0	rs201389179		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	ENST00000310112.3	-	3	306	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_ENST00000393693.2_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V|SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|EIF4E1B_ENST00000318682.6_5'Flank|MIR4281_ENST00000580852.1_RNA	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	19					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		10846	0.0		0.001	False		,,,				2504	0.0					ENST00000310112.3																			0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(55-57)gCg>gTg		synuclein, beta							43	34	37					5																	176056600		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176056600G>A	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.56C>T	5.37:g.176056600G>A	ENSP00000308057:p.Ala19Val					SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V|SNCB_ENST00000393693.2_Missense_Mutation_p.A19V	p.A19V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	306	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	19					Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.56C>T	CCDS4406.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.53	3.844805	0.71603	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	L	0.48642	1.525	0.58432	D	0.999996	D;D	0.76494	0.975;0.999	P;P	0.62560	0.72;0.904	D	0.85144	0.0982	10	0.38643	T	0.18	-16.6009	14.0226	0.64565	0.0:0.0:1.0:0.0	.	19;19	G4Y815;Q16143	.;SYUB_HUMAN	V	19	ENSP00000308057:A19V;ENSP00000377296:A19V;ENSP00000424073:A19V;ENSP00000422223:A19V	ENSP00000308057:A19V	A	-	2	0	SNCB	175989206	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.435000	0.80391	1.879000	0.54435	0.462000	0.41574	GCG		0.677	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		11	52	0	0	0	1	0	11	52					A	176056600	G	A	176056600	3	1	311	1	0	0	0	0	1	0	0	0	14842	1087	38	1	368	1	SNCB	5	176056600	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	30695	176056600	4858660	215	31289											
ADAMTS2	9509	broad.mit.edu	37	chr5	178566910	178566910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttgtcacactggcGggtcctgaacttcacgcccg	13	13	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	ENST00000251582.7	-	11	1857	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	586	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		TCACACTGGCGGGTCCTGAAC	0.642																																						ENST00000251582.7																			0				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						c.(1756-1758)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							86	96	93					5																	178566910		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178566910G>A	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.1756C>T	5.37:g.178566910G>A	ENSP00000251582:p.Arg586Cys						p.R586C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	11	1857	-	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)	586			TSP type-1 1.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1756C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673367	0.88445	.	.	ENSG00000087116	ENST00000251582	T	0.65549	-0.16	5.05	5.05	0.67936	.	0.000000	0.53938	D	0.000057	D	0.89051	0.6605	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94208	0.7456	10	0.87932	D	0	.	17.3886	0.87424	0.0:0.0:1.0:0.0	.	586	O95450	ATS2_HUMAN	C	586	ENSP00000251582:R586C	ENSP00000251582:R586C	R	-	1	0	ADAMTS2	178499516	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.450000	0.80656	2.353000	0.79882	0.561000	0.74099	CGC		0.642	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		107	116	0	0	0	1	0	107	116					A	178566910	G	A	178566910	3	1	311	1	0	0	0	0	1	0	0	0	265	1116	39	1	1927	1	ADAMTS2	5	178566910	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2510310	178566910	2348350	216	31290											
HNRNPH1	3187	broad.mit.edu	37	chr5	179043155	179043155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgctgctctggccaccGtagccgcctccgtaaccccc	8	20	2	0	rs115293737		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	ENST00000356731.5	-	11	2807	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y|HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	424	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18646	0.001		0.0	False		,,,				2504	0.0					ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(1270-1272)taC>taT		heterogeneous nuclear ribonucleoprotein H1 (H)							95	100	98					5																	179043155		2203	4300	6503	SO:0001819	synonymous_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179043155G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1272C>T	5.37:g.179043155G>A						HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y	p.Y424Y			P31943	HNRH1_HUMAN			11	2807	-			424			2 X 16 AA Gly-rich approximate repeats.		B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	c.1272C>T	CCDS4446.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	a	0.223	-1.027336	0.02045	.	.	ENSG00000169045	ENST00000523449;ENST00000523136	.	.	.	4.98	-1.67	0.08238	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52320	-0.8591	4	.	.	.	-6.8867	10.3351	0.43846	0.6062:0.0:0.3938:0.0	.	.	.	.	W	92;44	.	.	R	-	1	2	HNRNPH1	178975761	1.000000	0.71417	0.993000	0.49108	0.254000	0.26022	0.765000	0.26546	-0.169000	0.10834	-1.058000	0.02302	CGG		0.473	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		38	229	0	0	0	1	0	38	229					A	179043155	G	A	179043155	2	1	311	1	0	0	0	0	0	0	0	1	7266	1140	40	1		1	HNRNPH1	5	179043155	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476245	179043155	1872105	217	31291											
MAPK9	5601	broad.mit.edu	37	chr5	179676062	179676062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatgaagttagtgcacGctgtccgggccaggccaaag	12	11	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	ENST00000452135.2	-	6	825	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V|MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	176	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)			GTTAGTGCACGCTGTCCGGGC	0.498																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(526-528)gCg>gTg		mitogen-activated protein kinase 9							147	148	148					5																	179676062		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676062G>A	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.527C>T	5.37:g.179676062G>A	ENSP00000394560:p.Ala176Val					MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V	p.A176V			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	825	-	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)	176			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.527C>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318403	0.40996	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.59	4.72	0.59763	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127260	0.53938	D	0.000058	T	0.68016	0.2955	N	0.11870	0.19	0.80722	D	1	B;B;B;B;B	0.32101	0.356;0.057;0.057;0.097;0.019	B;B;B;B;B	0.17433	0.018;0.008;0.004;0.008;0.006	T	0.70085	-0.4969	10	0.66056	D	0.02	-7.0764	14.4306	0.67246	0.0705:0.0:0.9295:0.0	.	176;176;176;176;176	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	V	176	ENSP00000394560:A176V;ENSP00000377028:A176V;ENSP00000389338:A176V;ENSP00000345524:A176V;ENSP00000321410:A176V;ENSP00000397422:A176V;ENSP00000443149:A176V	ENSP00000345524:A176V	A	-	2	0	MAPK9	179608668	1.000000	0.71417	0.627000	0.29227	0.203000	0.24098	9.731000	0.98807	1.376000	0.46267	0.650000	0.86243	GCG		0.498	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			128	161	0	0	0	1	0	128	161					A	179676062	G	A	179676062	3	1	311	1	0	0	0	0	1	0	0	0	9287	1087	38	1	897	1	MAPK9	5	179676062	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	632907	179676062	1239198	218	31292											
FLT4	2324	broad.mit.edu	37	chr5	180046723	180046723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttgtggatgccgaaagcGgaggcttccaccaccttccc	10	16	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	ENST00000261937.6	-	18	2667	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_ENST00000393347.3_Silent_p.S863S|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Silent_p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2587-2589)tcC>tcT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						63	66	65					5																	180046723		2202	4296	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046723G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2589C>T	5.37:g.180046723G>A						FLT4_ENST00000502649.1_Silent_p.S863S|FLT4_ENST00000393347.3_Silent_p.S863S	p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	18	2667	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	863			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2589C>T	CCDS4457.1																																																																																				0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			84	160	0	0	0	1	0	84	160					A	180046723	G	A	180046723	2	1	311	1	0	0	0	0	0	0	0	1	5944	1103	39	1		1	FLT4	5	180046723	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	370661	180046723	868537	219	31293											
TMEM14C	51522	broad.mit.edu	37	chr6	10725225	10725225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtttggctttggctacGcagcactggttgcttctggt	13	8	1	0	rs202030847		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	ENST00000541412.1	+	3	437	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_ENST00000467415.1_3'UTR|TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	18					heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		22668	0.0		0.001	False		,,,				2504	0.0					ENST00000541412.1																			0				large_intestine(2)|lung(3)	5						c.(52-54)Gca>Aca		transmembrane protein 14C		G	THR/ALA,THR/ALA	0,4406		0,0,2203	471	433	446		52,52	3.7	1	6		446	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TMEM14C	NM_001165258.1,NM_016462.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	18/113,18/113	10725225	1,13005	2203	4300	6503	SO:0001583	missense	51522				heme biosynthetic process	integral to membrane|mitochondrial membrane		g.chr6:10725225G>A	AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"chromosome 6 open reading frame 53"	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.52G>A	6.37:g.10725225G>A	ENSP00000444561:p.Ala18Thr					TMEM14C_ENST00000467415.1_3'UTR|TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T	p.A18T	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	Epithelial(50;0.246)		3	437	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	18					Q5T4I6	Missense_Mutation	SNP	ENST00000541412.1	37	c.52G>A	CCDS4514.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.6	4.014204	0.75161	0.0	1.16E-4	ENSG00000111843	ENST00000541412;ENST00000342277;ENST00000229563	T;T	0.54071	0.59;0.59	3.74	3.74	0.42951	.	0.055841	0.64402	D	0.000001	T	0.43389	0.1245	M	0.62723	1.935	0.80722	D	1	P;P	0.45672	0.864;0.864	P;P	0.45232	0.474;0.474	T	0.49495	-0.8934	10	0.48119	T	0.1	.	14.3071	0.66391	0.0:0.0:1.0:0.0	.	18;18	Q53F27;Q9P0S9	.;TM14C_HUMAN	T	18	ENSP00000444561:A18T;ENSP00000229563:A18T	ENSP00000229563:A18T	A	+	1	0	TMEM14C	10833211	1.000000	0.71417	0.977000	0.42913	0.900000	0.52787	7.978000	0.88095	1.636000	0.50526	0.462000	0.41574	GCA		0.448	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039829.1	NM_016462		87	278	0	0	0	1	0	87	278					A	10725225	G	A	10725225	3	1	311	1	0	0	0	0	1	0	0	0	16062	1087	38	1	58	1	TMEM14C	6	10725225	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		10725225	160389842	220	31294											
ABCF1	23	broad.mit.edu	37	chr6	30552327	30552327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagggggctggcgcatgCgtgtctccctggccaggtgg	17	12	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	ENST00000326195.8	+	14	1487	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	459	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(1375-1377)Cgt>Tgt		ATP-binding cassette, sub-family F (GCN20), member 1							82	74	77					6																	30552327		1507	2709	4216	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30552327C>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1375C>T	6.37:g.30552327C>T	ENSP00000313603:p.Arg459Cys					ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C	p.R459C	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN			14	1487	+			459			ABC transporter 1.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.1375C>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653190	0.67472	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943	D;D	0.95588	-3.75;-3.75	5.27	4.4	0.53042	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.099114	0.64402	D	0.000003	D	0.97945	0.9324	H	0.97440	4.005	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	0.97910	1.0308	10	0.87932	D	0	-7.9918	6.5586	0.22474	0.2732:0.6416:0.0:0.0851	.	421;459;459	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	C	459;421;438	ENSP00000313603:R459C;ENSP00000365728:R421C	ENSP00000313603:R459C	R	+	1	0	ABCF1	30660306	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.843000	0.55865	1.459000	0.47892	0.462000	0.41574	CGT		0.612	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			38	34	0	0	0	1	0	38	34					T	30552327	C	T	30552327	3	4	311	1	0	0	0	0	1	0	0	0	65	768	27	1	1429	1	ABCF1	6	30552327	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	19827102	30552327	140562740	221	31295											
FGD2	221472	broad.mit.edu	37	chr6	36978766	36978766	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagccagagaagaagatCgtccaggagctgctggagac	15	9	0	4	rs367720858		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(316-318)atC>atT		FYVE, RhoGEF and PH domain containing 2		C		0,4406		0,0,2203	73	75	74		318	-2.7	1	6		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FGD2	NM_173558.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/656	36978766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36978766C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.318C>T	6.37:g.36978766C>T							p.I106I	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			3	489	+			106			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.318C>T	CCDS4829.1																																																																																				0.612	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		12	72	0	0	0	1	0	12	72					T	36978766	C	T	36978766	2	4	311	1	0	0	0	0	0	0	0	1	5833	874	31	1		1	FGD2	6	36978766	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6426439	36978766	134136301	222	31296											
PTK7	5754	broad.mit.edu	37	chr6	43044258	43044258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggggatccccggccagacCccgccggttgcctctgctca	13	18	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:43044258C>A	ENST00000230419.4	+	1	253	c.32C>A	c.(31-33)cCc>cAc	p.P11H	RP11-387M24.5_ENST00000606123.1_RNA|PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H|PTK7_ENST00000481273.1_5'Flank|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	11					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGCCAGACCCCGCCGGTTG	0.736																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(31-33)cCc>cAc		protein tyrosine kinase 7							7	10	9					6																	43044258		2096	4142	6238	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43044258C>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.32C>A	6.37:g.43044258C>A	ENSP00000230419:p.Pro11His					PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H	p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		1	253	+			11					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.32C>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533297	0.27387	.	.	ENSG00000112655	ENST00000230419;ENST00000476760;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201	T;T;T;T;T;T	0.74106	-0.71;0.54;0.29;-0.81;-0.62;-0.73	4.3	1.41	0.22369	.	0.944627	0.08697	N	0.907010	T	0.28400	0.0702	N	0.08118	0	0.18873	N	0.999987	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	0.18935	-1.0321	10	0.51188	T	0.08	.	2.6383	0.04964	0.1916:0.5177:0.1857:0.1051	.	11;11;11;11;11	Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;PTK7_HUMAN;.	H	11	ENSP00000230419:P11H;ENSP00000417607:P11H;ENSP00000419037:P11H;ENSP00000325462:P11H;ENSP00000326029:P11H;ENSP00000325992:P11H	ENSP00000230418:P11H	P	+	2	0	PTK7	43152236	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	0.428000	0.21395	0.069000	0.16605	0.407000	0.27541	CCC		0.736	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			19	9	1	0	1.15919e-05	1	1.1728e-05	19	9					A	43044258	C	A	43044258	3	1	311	1	0	0	0	0	1	0	0	0	12765	623	22	4	34	4	PTK7	6	43044258	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6065492	43044258	128070809	223	31297											
TDRD6	221400	broad.mit.edu	37	chr6	46656282	46656282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggtgccggcaggctgCggcgcgggctcaggcgagcc	20	14	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	ENST00000316081.6	+	1	417	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.C139C|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	139					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)			CGGCAGGCTGCGGCGCGGGCT	0.711																																						ENST00000544460.1																			0				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						c.(415-417)tgC>tgT		tudor domain containing 6							5	7	7					6																	46656282		2022	3917	5939	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656282C>T	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.417C>T	6.37:g.46656282C>T						TDRD6_ENST00000316081.6_Silent_p.C139C	p.C139C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	671	+			139					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.417C>T	CCDS34470.1																																																																																				0.711	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	19	0	0	0	1	0	4	19					T	46656282	C	T	46656282	2	4	311	1	0	0	0	0	0	0	0	1	15731	776	27	1		1	TDRD6	6	46656282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3612024	46656282	124458785	224	31298											
SNAP91	9892	broad.mit.edu	37	chr6	84417562	84417563	+	Frame_Shift_Ins	INS	-	-	T													attacttcatgagtagtggcINStttgcagaccgctcttgcta							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	ENST00000439399.2	-	2	400_401	c.84_85insA	c.(82-87)aaagccfs	p.A29fs	SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000428679.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.A29fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	29	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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)		TGAGTAGTGGCTTTGCAGACCG	0.559																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(82-87)aaccacfs		synaptosomal-associated protein, 91kDa																																				SO:0001589	frameshift_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84417562_84417563insT	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.85dupA	6.37:g.84417565_84417565dupT	ENSP00000400459:p.Ala29fs					SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000439399.2_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.NH28fs	p.NH28fs			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	2	677_678	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	28			ENTH.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Ins	INS	ENST00000439399.2	37	c.84_85insA	CCDS47455.1																																																																																				0.559	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			98	57						98	57	---	---	---	---	T	84417563	-	T	84417562	7	5	311	1	0	1	1	0	0	0	0	0	14833	797	28	0	2746	0	SNAP91	6	84417562	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37761280	84417562	86697505	225	31299											
PEX3	8504	broad.mit.edu	37	chr6	143793364	143793364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaaatcagaaatctcGttgagcagcataagtcttct	7	7	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	ENST00000367591.4	+	8	709	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	216					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(646-648)Gtt>Att		peroxisomal biogenesis factor 3							96	101	99					6																	143793364		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143793364G>A	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.646G>A	6.37:g.143793364G>A	ENSP00000356563:p.Val216Ile						p.V216I	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	8	709	+			216					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.646G>A	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080329	0.55753	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.42900	0.96;0.96	5.93	4.96	0.65561	.	0.232087	0.43110	D	0.000618	T	0.14787	0.0357	L	0.31578	0.945	0.54753	D	0.999989	B;B	0.27951	0.005;0.195	B;B	0.18561	0.009;0.022	T	0.03514	-1.1029	10	0.14252	T	0.57	-22.1175	13.5851	0.61926	0.1009:0.0:0.8991:0.0	.	216;216	B4DV31;P56589	.;PEX3_HUMAN	I	172;172;216	ENSP00000356564:V172I;ENSP00000356563:V216I	ENSP00000344195:V172I	V	+	1	0	PEX3	143835057	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.296000	0.51802	2.818000	0.97014	0.591000	0.81541	GTT		0.348	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			38	18	0	0	0	1	0	38	18					A	143793364	G	A	143793364	3	1	311	1	0	0	0	0	1	0	0	0	11747	1145	40	1	676	1	PEX3	6	143793364	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	59375802	143793364	27321703	226	31300											
LATS1	9113	broad.mit.edu	37	chr6	150005515	150005515	+	Frame_Shift_Del	DEL	G	G	-													tccttacttgaggtggtggtGgggggttcactctctgtccg					rs56149740	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	ENST00000543571.1	-	4	1257	c.710delC	c.(709-711)ccafs	p.P240fs	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs	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)		AGGTGGTGGTGGGGGGTTCAC	0.532																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(709-711)cafs		large tumor suppressor kinase 1							124	112	116					6																	150005515		2203	4300	6503	SO:0001589	frameshift_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005515delG	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.710delC	6.37:g.150005515delG	ENSP00000437550:p.Pro240fs					LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs	p.P240fs	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1257	-		Ovarian(120;0.0164)	240						Frame_Shift_Del	DEL	ENST00000543571.1	37	c.710delC	CCDS34551.1																																																																																				0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		18	149						18	149	---	---	---	---	-	150005515	G	-	150005515	7	5	311	1	0	1	0	1	0	0	0	0	8646	1348	47	0	2702	0	LATS1	6	150005515	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	6212151	150005515	21109552	227	31301											
WTAP	9589	broad.mit.edu	37	chr6	160176453	160176453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacgtaaatcaactcagtgCggggtatgaaagtgtagact	11	6	2	2	rs375840138		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	ENST00000358372.4	+	8	2758	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(1000-1002)gCg>gTg		Wilms tumor 1 associated protein		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	107	98	101		1001	4.4	1	6		101	0,8600		0,0,4300	no	missense	WTAP	NM_004906.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	334/397	160176453	1,13005	2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176453C>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1001C>T	6.37:g.160176453C>T	ENSP00000351141:p.Ala334Val					SOD2_ENST00000546087.1_Intron	p.A334V	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2758	+		Breast(66;0.000776)|Ovarian(120;0.0303)	334					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.1001C>T	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729538	0.48833	2.27E-4	0.0	ENSG00000146457	ENST00000358372	T	0.53423	0.62	6.17	4.41	0.53225	.	0.148693	0.64402	N	0.000008	T	0.17323	0.0416	N	0.19112	0.55	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.14578	0.011;0.001	T	0.03374	-1.1043	10	0.33141	T	0.24	-6.4167	13.0344	0.58862	0.0:0.8707:0.0:0.1293	.	334;334	A8K489;Q15007	.;FL2D_HUMAN	V	334	ENSP00000351141:A334V	ENSP00000351141:A334V	A	+	2	0	WTAP	160096443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.686000	0.68211	0.946000	0.37632	0.655000	0.94253	GCG		0.483	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		33	64	0	0	0	1	0	33	64					T	160176453	C	T	160176453	3	4	311	1	0	0	0	0	1	0	0	0	17406	768	27	1	1031	1	WTAP	6	160176453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10170938	160176453	10938614	228	31302											
FRMD1	79981	broad.mit.edu	37	chr6	168463623	168463623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaggatcacggtgggaCgaccttccttcttatcctag	10	13	2	0	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	ENST00000283309.6	-	7	885	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	274	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		R -> C (in dbSNP:rs902393).			cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622													C|||	16	0.00319489	0.0113	0.0014	5008	,	,		16992	0.0		0.0	False		,,,				2504	0.0				GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(820-822)cGt>cAt		FERM domain containing 1		C	HIS/ARG,HIS/ARG	33,4373	38.4+/-70.7	0,33,2170	126	108	114		617,821	-5.8	0	6	dbSNP_132	114	0,8600		0,0,4300	yes	missense,missense	FRMD1	NM_001122841.1,NM_024919.3	29,29	0,33,6470	TT,TC,CC		0.0,0.749,0.2537	benign,benign	206/482,274/550	168463623	33,12973	2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168463623C>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.821G>A	6.37:g.168463623C>T	ENSP00000283309:p.Arg274His					FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H	p.R274H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	885	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	274		R -> C (in dbSNP:rs902393).	FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.821G>A	CCDS5306.1	8	0.003663003663003663	7	0.014227642276422764	1	0.0027624309392265192	0	0.0	0	0.0	C	5.948	0.358866	0.11239	0.00749	0.0	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	D;D;T	0.82984	-1.67;-1.57;1.5	2.89	-5.77	0.02369	FERM domain (1);	0.301075	0.24922	N	0.034532	T	0.56062	0.1960	M	0.61703	1.905	0.09310	N	1	B;B;B;B	0.20459	0.045;0.004;0.006;0.02	B;B;B;B	0.21546	0.035;0.002;0.005;0.013	T	0.43972	-0.9358	10	0.42905	T	0.14	.	6.7172	0.23310	0.1124:0.4555:0.0:0.4321	.	186;274;206;146	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	H	274;206;45	ENSP00000283309:R274H;ENSP00000414115:R206H;ENSP00000440078:R45H	ENSP00000283309:R274H	R	-	2	0	FRMD1	168206472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.276000	0.08514	-2.595000	0.00454	-3.706000	0.00023	CGT		0.622	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		29	58	0	0	0	1	0	29	58					T	168463623	C	T	168463623	3	4	311	1	0	0	0	0	1	0	0	0	6049	536	19	1	848	1	FRMD1	6	168463623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8287170	168463623	2651444	229	31303											
FAM120B	84498	broad.mit.edu	37	chr6	170626760	170626760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgatggcatggtggaGcaggataagagagatgaatg	15	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:170626760G>T	ENST00000476287.1	+	2	390	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D|FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	94					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)		GCATGGTGGAGCAGGATAAGA	0.443																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(280-282)gaG>gaT		family with sequence similarity 120B							88	87	87					6																	170626760		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626760G>T	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.282G>T	6.37:g.170626760G>T	ENSP00000417970:p.Glu94Asp					FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D|FAM120B_ENST00000252510.9_Intron	p.E94D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	390	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	94					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.282G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555701	0.65425	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.56776	0.44;0.44;0.44	5.45	3.7	0.42460	.	0.050864	0.85682	D	0.000000	T	0.52661	0.1748	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66979	0.93;0.948	T	0.54417	-0.8297	10	0.35671	T	0.21	-32.6087	6.265	0.20922	0.3864:0.0:0.6136:0.0	.	94;94	Q96EK7;F2Z2E1	F120B_HUMAN;.	D	106;117;94	ENSP00000444125:E106D;ENSP00000440125:E117D;ENSP00000417970:E94D	ENSP00000436640:E94D	E	+	3	2	FAM120B	170468685	1.000000	0.71417	0.977000	0.42913	0.927000	0.56198	0.913000	0.28611	0.883000	0.36040	0.655000	0.94253	GAG		0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		7	93	1	0	0.0293803	1	0.0294659	7	93					T	170626760	G	T	170626760	3	4	311	1	0	0	0	0	1	0	0	0	5417	962	34	4	284	4	FAM120B	6	170626760	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2163137	170626760	488307	230	31304											
GPER	2852	broad.mit.edu	37	chr7	1132151	1132151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctccgcatgatcctcGcggtggtgctggtcttcttc	13	13	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:1132151G>A	ENST00000297469.3	+	2	1478	c.787G>A	c.(787-789)Gcg>Acg	p.A263T	C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.A263T|GPER1_ENST00000397092.1_Missense_Mutation_p.A263T|GPER1_ENST00000401670.1_Missense_Mutation_p.A263T|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	263					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CATGATCCTCGCGGTGGTGCT	0.687																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(787-789)Gcg>Acg									49	52	51					7																	1132151		2203	4300	6503	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1132151G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.787G>A	7.37:g.1132151G>A	ENSP00000297469:p.Ala263Thr					C7orf50_ENST00000397098.3_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.A263T|GPER_ENST00000397088.3_Missense_Mutation_p.A263T|GPER_ENST00000401670.1_Missense_Mutation_p.A263T|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron	p.A263T	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1671	+		Ovarian(82;0.0253)	263					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.787G>A	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067118	0.55539	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.43	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.291855	0.35772	N	0.002982	T	0.48589	0.1508	L	0.41124	1.26	0.27206	N	0.960035	D	0.67145	0.996	P	0.59948	0.866	T	0.41342	-0.9514	10	0.66056	D	0.02	-20.2984	9.684	0.40087	0.1577:0.0:0.8423:0.0	.	263	Q99527	GPER_HUMAN	T	263	ENSP00000385151:A263T;ENSP00000380281:A263T;ENSP00000297469:A263T;ENSP00000380277:A263T	ENSP00000297469:A263T	A	+	1	0	GPER	1098677	1.000000	0.71417	0.036000	0.18154	0.618000	0.37518	5.223000	0.65283	1.298000	0.44778	0.655000	0.94253	GCG		0.687	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		49	94	0	0	0	1	0	49	94					A	1132151	G	A	1132151	3	1	311	1	0	0	0	0	1	0	0	0	6607	1087	38	1	789	1	GPER	7	1132151	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		1132151	158006512	231	31305											
KIAA0415	9907	broad.mit.edu	37	chr7	4824642	4824642	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcttcgggaggtggccttCgagtactgccagcgcctcat	14	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:4824642C>T	ENST00000348624.4	+	7	988	c.894C>T	c.(892-894)ttC>ttT	p.F298F	AP5Z1_ENST00000401897.1_Silent_p.F298F	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	298					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)											AGGTGGCCTTCGAGTACTGCC	0.682																																						ENST00000348624.4																			0											c.(892-894)ttC>ttT		adaptor-related protein complex 5, zeta 1 subunit							21	26	24					7																	4824642		1932	4114	6046	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824642C>T	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.894C>T	7.37:g.4824642C>T						AP5Z1_ENST00000401897.1_Silent_p.F298F	p.F298F	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	988	+			298					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.894C>T	CCDS47528.1																																																																																				0.682	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			44	63	0	0	0	1	0	44	63					T	4824642	C	T	4824642	2	4	311	1	0	0	0	0	0	0	0	1	8175	883	31	1		1	KIAA0415	7	4824642	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3692491	4824642	154314021	232	31306											
FBXL18	80028	broad.mit.edu	37	chr7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcaggttgcagcaggacGccaccagagtctccaggatg	15	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1138-1140)gCg>gTg		F-box and leucine-rich repeat protein 18							17	25	22					7																	5540761		2164	4263	6427	SO:0001583	missense	80028							g.chr7:5540761G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1139C>T	7.37:g.5540761G>A	ENSP00000371805:p.Ala380Val					FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1262	-		Ovarian(82;0.0607)	380					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1139C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.514|9.514	1.106525|1.106525	0.20632|0.20632	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.01005|.	5.45;5.45|.	5.03|5.03	-4.22|-4.22	0.03800|0.03800	.|.	0.825130|.	0.11372|.	N|.	0.570784|.	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.27191|0.27191	-1.0081|-1.0081	10|5	0.30854|.	T|.	0.27|.	.|.	0.8005|0.8005	0.01074|0.01074	0.3835:0.1244:0.2651:0.227|0.3835:0.1244:0.2651:0.227	.|.	380;380|.	F5H4Z4;Q96ME1-4|.	.;.|.	V|C	380|264	ENSP00000371805:A380V;ENSP00000444797:A380V|.	ENSP00000311990:A380V|.	A|R	-|-	2|1	0|0	FBXL18|FBXL18	5507287|5507287	0.000000|0.000000	0.05858|0.05858	0.117000|0.117000	0.21633|0.21633	0.991000|0.991000	0.79684|0.79684	-0.072000|-0.072000	0.11486|0.11486	-0.613000|-0.613000	0.05694|0.05694	-0.482000|-0.482000	0.04802|0.04802	GCG|CGT		0.687	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		20	105	0	0	0	1	0	20	105					A	5540761	G	A	5540761	3	1	311	1	0	0	0	0	1	0	0	0	5714	1087	38	1	1029	1	FBXL18	7	5540761	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	716119	5540761	153597902	233	31307											
HOXA1	3198	broad.mit.edu	37	chr7	27135248	27135248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagccatagcttggaccaCaacttgagtgggagtaggac	14	8	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	ENST00000343060.4	-	1	345	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	95					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(283-285)tGt>tAt		homeobox A1							76	78	77					7																	27135248		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135248C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.284G>A	7.37:g.27135248C>T	ENSP00000343246:p.Cys95Tyr		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	p.C95Y	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	345	-			95					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.284G>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562471	0.65538	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.31769	1.48;1.48	5.28	5.28	0.74379	.	0.252926	0.32503	N	0.006013	T	0.55940	0.1952	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.83275	0.979;0.996	T	0.58601	-0.7608	10	0.66056	D	0.02	.	16.3954	0.83604	0.0:1.0:0.0:0.0	.	95;95	P49639;E7ERT8	HXA1_HUMAN;.	Y	95	ENSP00000343246:C95Y;ENSP00000347851:C95Y	ENSP00000343246:C95Y	C	-	2	0	HOXA1	27101773	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.586000	0.74067	2.478000	0.83669	0.313000	0.20887	TGT		0.612	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			29	149	0	0	0	1	0	29	149					T	27135248	C	T	27135248	3	4	311	1	0	0	0	0	1	0	0	0	7288	478	17	2	731	2	HOXA1	7	27135248	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21594487	27135248	132003415	234	31308											
GGCT	79017	broad.mit.edu	37	chr7	30538452	30538452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgggggagcactttcGtaatttgtcatcagataact	13	6	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	ENST00000275428.4	-	3	524	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Silent_p.Y45Y	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	130					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.Y130*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338																																						ENST00000275428.4																			1	Substitution - Nonsense(1)	p.Y130*(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(388-390)taC>taT		gamma-glutamylcyclotransferase							155	146	149					7																	30538452		2203	4300	6503	SO:0001819	synonymous_variant	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538452G>A	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"chromosome 7 open reading frame 24"	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.390C>T	7.37:g.30538452G>A						GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Silent_p.Y45Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron	p.Y130Y	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	524	-			130					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Silent	SNP	ENST00000275428.4	37	c.390C>T	CCDS5428.1																																																																																				0.338	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		63	94	0	0	0	1	0	63	94					A	30538452	G	A	30538452	2	1	311	1	0	0	0	0	0	0	0	1	6355	1140	40	1		1	GGCT	7	30538452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3403204	30538452	128600211	235	31309											
FKBP9	11328	broad.mit.edu	37	chr7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-													taatttctagctggtgtgatCccccccaattcagtgcttca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	ENST00000242209.4	+	3	547	c.378delC	c.(376-378)atcfs	p.I126fs	FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)atfs		FK506 binding protein 9, 63 kDa							84	84	84					7																	33014804		2203	4300	6503	SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014804delC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.378delC	7.37:g.33014804delC	ENSP00000242209:p.Ile126fs					FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	p.I126fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Del	DEL	ENST00000242209.4	37	c.378delC	CCDS5439.1																																																																																				0.443	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		33	71						33	71	---	---	---	---	-	33014804	C	-	33014804	7	5	311	1	0	1	0	1	0	0	0	0	5915	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	2476352	33014804	126123859	236	31310											
HECW1	23072	broad.mit.edu	37	chr7	43484733	43484733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgacacgcaccccagcacCgggagcgagagcgactccag	14	16	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	ENST00000395891.2	+	11	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_ENST00000453890.1_Silent_p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	654					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						ACCCCAGCACCGGGAGCGAGA	0.716																																						ENST00000395891.1																			0				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						c.(1960-1962)acC>acT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							17	23	21					7																	43484733		2136	4221	6357	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484733C>T	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.1962C>T	7.37:g.43484733C>T						HECW1_ENST00000453890.1_Silent_p.T654T	p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2567	+			654					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1962C>T	CCDS5469.2																																																																																				0.716	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		33	47	0	0	0	1	0	33	47					T	43484733	C	T	43484733	2	4	311	1	0	0	0	0	0	0	0	1	7042	639	23	1		1	HECW1	7	43484733	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10469929	43484733	115653930	237	31311											
C7orf42	55069	broad.mit.edu	37	chr7	66415965	66415965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcactgtgttcctgacaCgtacagcaacgccacgctct	8	16	1	1	rs200886278		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:66415965C>T	ENST00000341567.4	+	5	878	c.623C>T	c.(622-624)aCg>aTg	p.T208M		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	208						integral component of membrane (GO:0016021)											GTTCCTGACACGTACAGCAAC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18453	0.0		0.0	False		,,,				2504	0.0					ENST00000341567.4																			0											c.(622-624)aCg>aTg		transmembrane protein 248							211	184	193					7																	66415965		2203	4300	6503	SO:0001583	missense	55069							g.chr7:66415965C>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.623C>T	7.37:g.66415965C>T	ENSP00000340668:p.Thr208Met						p.T208M	NM_017994.4	NP_060464.1					5	878	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.623C>T	CCDS5536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.8	4.772286	0.90108	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.52672	0.706	T	0.63739	-0.6569	9	0.87932	D	0	-16.5062	19.5705	0.95413	0.0:1.0:0.0:0.0	.	208	Q9NWD8	CG042_HUMAN	M	208	.	ENSP00000340668:T208M	T	+	2	0	C7orf42	66053400	1.000000	0.71417	0.972000	0.41901	0.700000	0.40528	5.562000	0.67346	2.941000	0.99782	0.655000	0.94253	ACG		0.522	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		60	277	0	0	0	1	0	60	277					T	66415965	C	T	66415965	3	4	311	1	0	0	0	0	1	0	0	0	2392	536	19	1	637	1	C7orf42	7	66415965	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	22931232	66415965	92722698	238	31312											
TYW1B	441250	broad.mit.edu	37	chr7	72281140	72281140	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggtaagttttgccaaatcGaaaatcaatggatgcttcct	8	8	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72281140G>A	ENST00000435769.2	-	0	471				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTGCCAAATCGAAAATCAATG	0.448																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							173	156	161					7																	72281140		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72281140G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72281140G>A										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.448	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		100	132	0	0	0	1	0	100	132					A	72281140	G	A	72281140	1	1	311	0	1	0	0	0	0	0	0	0	16816	1066	37	1		1	TYW1B	7	72281140	RNA	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5865175	72281140	86857523	239	31313											
FKBP6	8468	broad.mit.edu	37	chr7	72754699	72754699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcacctggtggaggcCgccaagcttcctgttctcct	12	14	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	ENST00000252037.4	+	6	717	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_ENST00000413573.2_Silent_p.A186A|RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Silent_p.A211A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	216					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(646-648)gcC>gcT		FK506 binding protein 6, 36kDa							70	75	73					7																	72754699		1976	4155	6131	SO:0001819	synonymous_variant	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72754699C>T	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.648C>T	7.37:g.72754699C>T						FKBP6_ENST00000413573.2_Silent_p.A186A|FKBP6_ENST00000431982.2_Silent_p.A211A	p.A216A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			6	717	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	216					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	ENST00000252037.4	37	c.648C>T	CCDS43595.1																																																																																				0.572	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		24	112	0	0	0	1	0	24	112					T	72754699	C	T	72754699	2	4	311	1	0	0	0	0	0	0	0	1	5912	639	23	1		1	FKBP6	7	72754699	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473559	72754699	86383964	240	31314											
MLXIPL	51085	broad.mit.edu	37	chr7	73013863	73013863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgagctcacctgcagaCggctgtgtccagagaggtgg	18	9	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	ENST00000313375.3	-	8	1111	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	355					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1063-1065)cGt>cAt		MLX interacting protein-like							43	49	47					7																	73013863		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73013863C>T	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1064G>A	7.37:g.73013863C>T	ENSP00000320886:p.Arg355His					MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H	p.R355H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			8	1111	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	355					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1064G>A	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	c	12.30	1.896518	0.33442	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.24350	2.48;2.48;2.48;2.48;1.86;1.87	4.52	3.62	0.41486	.	0.933067	0.08946	U	0.870769	T	0.42653	0.1212	L	0.56769	1.78	0.19300	N	0.999971	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.999;0.999;0.999	P;P;P;P;P;P	0.59487	0.789;0.764;0.725;0.858;0.858;0.858	T	0.18085	-1.0348	10	0.44086	T	0.13	-5.7053	10.5063	0.44836	0.0:0.8025:0.1975:0.0	.	262;262;355;355;355;355	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	H	355;355;355;355;262;262;188	ENSP00000412330:R355H;ENSP00000406296:R355H;ENSP00000320886:R355H;ENSP00000346629:R355H;ENSP00000378616:R262H;ENSP00000392636:R262H	ENSP00000320886:R355H	R	-	2	0	MLXIPL	72651799	0.993000	0.37304	0.928000	0.36995	0.725000	0.41563	0.798000	0.27014	0.867000	0.35654	0.550000	0.68814	CGT		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		47	90	0	0	0	1	0	47	90					T	73013863	C	T	73013863	3	4	311	1	0	0	0	0	1	0	0	0	9637	536	19	1	1534	1	MLXIPL	7	73013863	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	259164	73013863	86124800	241	31315											
PCLO	27445	broad.mit.edu	37	chr7	82584436	82584436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcatcccaccatacaaagGctctttttcaaacacttcat	3	13	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	ENST00000333891.9	-	5	6170	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1945S	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						CCATACAAAGGCTCTTTTTCA	0.373																																						ENST00000423517.2																			0				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						c.(5833-5835)Cct>Tct		piccolo presynaptic cytomatrix protein							67	66	66					7																	82584436		1852	4087	5939	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584436G>A	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.5833C>T	7.37:g.82584436G>A	ENSP00000334319:p.Pro1945Ser					PCLO_ENST00000333891.8_Missense_Mutation_p.P1945S	p.P1945S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6170	-			1876						Missense_Mutation	SNP	ENST00000333891.9	37	c.5833C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888766	0.17540	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.23	5.57	5.57	0.84162	.	.	.	.	.	T	0.20007	0.0481	L	0.27053	0.805	0.80722	D	1	P;P	0.41450	0.75;0.75	P;P	0.48089	0.566;0.566	T	0.00891	-1.1525	9	0.87932	D	0	.	13.2603	0.60101	0.0822:0.0:0.9178:0.0	.	1945;1945	Q9Y6V0-5;Q9Y6V0-6	.;.	S	1876;1945;1945	ENSP00000334319:P1945S;ENSP00000388393:P1945S	ENSP00000334319:P1945S	P	-	1	0	PCLO	82422372	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.732000	0.47352	2.619000	0.88677	0.655000	0.94253	CCT		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	67	0	0	0	1	0	13	67					A	82584436	G	A	82584436	3	1	311	1	0	0	0	0	1	0	0	0	11583	1203	42	2	9696	2	PCLO	7	82584436	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9570573	82584436	76554227	242	31316											
SEMA3A	10371	broad.mit.edu	37	chr7	83823817	83823817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggataatttcagccttggcAcattgttcttcccattctga	7	10	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	ENST00000265362.4	-	1	400	c.86T>C	c.(85-87)gTg>gCg	p.V29A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	29					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						CAGCCTTGGCACATTGTTCTT	0.418																																						ENST00000265362.3																			0				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						c.(85-87)gTg>gCg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							198	195	196					7																	83823817		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823817A>G	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.86T>C	7.37:g.83823817A>G	ENSP00000265362:p.Val29Ala					SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			1	400	-			29						Missense_Mutation	SNP	ENST00000265362.4	37	c.86T>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.812535	0.32053	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879	T;T;T	0.22945	1.93;1.93;1.93	5.64	5.64	0.86602	Semaphorin/CD100 antigen (1);	0.182781	0.48767	D	0.000177	T	0.25568	0.0622	L	0.45581	1.43	0.51482	D	0.999924	B	0.02656	0.0	B	0.04013	0.001	T	0.02581	-1.1138	10	0.30078	T	0.28	.	15.9036	0.79403	1.0:0.0:0.0:0.0	.	29	Q14563	SEM3A_HUMAN	A	29	ENSP00000265362:V29A;ENSP00000415260:V29A;ENSP00000391900:V29A	ENSP00000265362:V29A	V	-	2	0	SEMA3A	83661753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.552000	0.73914	2.157000	0.67596	0.529000	0.55759	GTG		0.418	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		29	210	0	0	0	1	0	29	210					G	83823817	A	G	83823817	3	3	311	1	0	0	0	0	1	0	0	0	14024	159	6	3	2297	3	SEMA3A	7	83823817	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	1239381	83823817	75314846	243	31317											
AKAP9	10142	broad.mit.edu	37	chr7	91737807	91737807	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatatttttaatcctttaGgtacccaggcactccagctg	6	11	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	ENST00000359028.2	+	49	11783		c.e49-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e49-1		A kinase (PRKA) anchor protein 9							103	98	100					7																	91737807		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91737807G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11559-1G>T	7.37:g.91737807G>T						AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site				Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		49	11783	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)							A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37			.	.	.	.	.	.	.	.	.	.	G	17.84	3.487439	0.63962	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91575743	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.054000	0.64275	2.767000	0.95098	0.655000	0.94253	.		0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron	15	98	1	0	1.67942e-08	1	1.70918e-08	15	98					T	91737807	G	T	91737807	5	4	311	1	0	0	0	0	0	0	1	0	459	1014	35	4	11740	4	AKAP9	7	91737807	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7913990	91737807	67400856	244	31318											
PON1	5444	broad.mit.edu	37	chr7	94931546	94931548	+	In_Frame_Del	DEL	AGA	AGA	-													aggaggattctctgagtcatAgaagaagattttcatgccat					rs375067643		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	ENST00000222381.3	-	8	1109_1111	c.878_880delTCT	c.(877-882)ttctat>tat	p.F293del	PON1_ENST00000542556.1_In_Frame_Del_p.F293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	293					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(877-882)tat>t		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)			56,4208		28,0,2104						4.7	0.9			80	129,8125		64,1,4062	no	coding	PON1	NM_000446.5		92,1,6166	A1A1,A1R,RR		1.5629,1.3133,1.4779				185,12333				SO:0001651	inframe_deletion	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94931546_94931548delAGA	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"Paraoxonases"	9204	protein-coding gene	gene with protein product	"esterase A", "arylesterase 1"	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.878_880delTCT	7.37:g.94931552_94931554delAGA	ENSP00000222381:p.Phe293del					PON1_ENST00000542556.1_In_Frame_Del_p.FY293del	p.FY293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	1109_1111	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		293					B2RA40|Q16052|Q6B0J6|Q9UCB1	In_Frame_Del	DEL	ENST00000222381.3	37	c.878_880delTCT	CCDS5638.1																																																																																				0.399	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		20	108						20	108	---	---	---	---	-	94931548	AGA	-	94931546	7	5	311	1	0	1	0	1	0	0	0	0	12248	420	15	0	195	0	PON1	7	94931546	In_Frame_Del	DEL	AGA	TCGA-HT-8564-01A-11D-2395-08	3193739	94931546	64207117	245	31319											
MCM7	4176	broad.mit.edu	37	chr7	99690987	99690989	+	In_Frame_Del	DEL	TCT	TCT	-													gcctgatggcttcattcacaTcttctttctccaccacatcc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	ENST00000303887.5	-	14	2529_2531	c.1884_1886delAGA	c.(1882-1887)gaagat>gat	p.E628del	MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_In_Frame_Del_p.E452del|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	628	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATTCACATCTTCTTTCTCCA	0.527																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1882-1887)gat>ga		minichromosome maintenance complex component 7	Atorvastatin(DB01076)																																			SO:0001651	inframe_deletion	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99690987_99690989delTCT		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1884_1886delAGA	7.37:g.99690990_99690992delTCT	ENSP00000307288:p.Glu628del					MCM7_ENST00000354230.3_In_Frame_Del_p.ED452del|MCM7_ENST00000343023.6_Intron	p.ED628del	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			14	2529_2531	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		628			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	In_Frame_Del	DEL	ENST00000303887.5	37	c.1884_1886delAGA	CCDS5683.1																																																																																				0.527	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			107	209						107	209	---	---	---	---	-	99690989	TCT	-	99690987	7	5	311	1	0	1	0	1	0	0	0	0	9392	1435	50	0	281	0	MCM7	7	99690987	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	4759441	99690987	59447676	246	31320											
ZAN	7455	broad.mit.edu	37	chr7	100390125	100390125	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcctctgccaggaggCgggcgctgccctggctggct	15	16	1	0	rs372977694		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100390125C>T	ENST00000348028.3	+	0	7975				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_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)			TGCCAGGAGGCGGGCGCTGCC	0.672																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							26	29	28					7																	100390125		2095	4195	6290			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100390125C>T	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.100390125C>T						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7956	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.62|10.62	1.401712|1.401712	0.25291|0.25291	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.79141|0.26660	-1.24;-1.24;-1.24|1.72	3.24|3.24	0.258|0.258	0.15578|0.15578	.|.	0.000000|.	0.44097|.	D|.	0.000486|.	T|T	0.09730|0.09730	0.0239|0.0239	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999983|0.999983	P|B	0.36874|0.18310	0.572|0.027	B|B	0.22152|0.08055	0.038|0.003	T|T	0.34054|0.34054	-0.9844|-0.9844	9|8	.|.	.|.	.|.	.|.	2.7794|2.7794	0.05356|0.05356	0.2214:0.5254:0.0:0.2531|0.2214:0.5254:0.0:0.2531	.|.	2603|1020	F5H0T8|F5GX59	.|.	V|W	2603|1020	ENSP00000445943:A2603V;ENSP00000445091:A2603V;ENSP00000444427:A2603V|ENSP00000441117:R1020W	.|.	A|R	+|+	2|1	0|2	ZAN|ZAN	100228061|100228061	0.061000|0.061000	0.20836|0.20836	0.269000|0.269000	0.24586|0.24586	0.106000|0.106000	0.19336|0.19336	0.316000|0.316000	0.19469|0.19469	0.050000|0.050000	0.15949|0.15949	0.555000|0.555000	0.69702|0.69702	GCG|CGG		0.672	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		40	44	0	0	0	1	0	40	44					T	100390125	C	T	100390125	1	4	311	0	1	0	0	0	0	0	0	0	17510	768	27	1		1	ZAN	7	100390125	RNA	SNP	C	TCGA-HT-8564-01A-11D-2395-08	699138	100390125	58748538	247	31321											
FBXL13	222235	broad.mit.edu	37	chr7	102669158	102669158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcattttttcagccaggaCgacattttcatttgtacgag	8	8	3	0	rs147832645		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	ENST00000313221.4	-	4	532	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000393772.2_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	36								p.V36F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		15610	0.0		0.0	False		,,,				2504	0.001					ENST00000393772.2																			1	Substitution - Missense(1)	p.V36F(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(106-108)Gtc>Atc		F-box and leucine-rich repeat protein 13		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	100	91	94		106,106	-3	0	7	dbSNP_134	94	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	FBXL13	NM_001111038.1,NM_145032.3	29,29	0,5,6497	TT,TC,CC		0.0582,0.0,0.0384	benign,benign	36/691,36/736	102669158	5,12999	2203	4299	6502	SO:0001583	missense	222235							g.chr7:102669158C>T	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.106G>A	7.37:g.102669158C>T	ENSP00000321927:p.Val36Ile					FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I|FBXL13_ENST00000313221.4_Missense_Mutation_p.V36I|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I	p.V36I			Q8NEE6	FXL13_HUMAN			4	532	-			36					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.106G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910513	0.17833	0.0	5.82E-4	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	3.94	-2.96	0.05547	.	1.710430	0.03213	N	0.176408	T	0.12987	0.0315	N	0.01048	-1.04	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	0.17471	-1.0368	10	0.09338	T	0.73	.	4.7978	0.13281	0.0:0.3225:0.3612:0.3163	.	36;36;36	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	I	36;36;36;36;36;36;36;36;126	ENSP00000377367:V36I;ENSP00000368610:V36I;ENSP00000368608:V36I;ENSP00000368607:V36I;ENSP00000388608:V36I;ENSP00000321927:V36I;ENSP00000409716:V36I;ENSP00000391550:V36I;ENSP00000390126:V126I	ENSP00000321927:V36I	V	-	1	0	FBXL13	102456394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.503000	0.00965	-0.562000	0.06086	-0.384000	0.06662	GTC		0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		29	41	0	0	0	1	0	29	41					T	102669158	C	T	102669158	3	4	311	1	0	0	0	0	1	0	0	0	5709	536	19	1	2169	1	FBXL13	7	102669158	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2279033	102669158	56469505	248	31322											
TFEC	22797	broad.mit.edu	37	chr7	115590971	115590971	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccaagctccttgattcGgtaattaatattataccttc	6	9	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	ENST00000265440.7	-	6	652	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(472-474)Cga>Tga		transcription factor EC							39	43	41					7																	115590971		2203	4297	6500	SO:0001587	stop_gained	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115590971G>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.472C>T	7.37:g.115590971G>A	ENSP00000265440:p.Arg158*					TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*	p.R158*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		6	652	-			158			Helix-loop-helix motif.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Nonsense_Mutation	SNP	ENST00000265440.7	37	c.472C>T	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687324	0.96784	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	.	.	.	5.43	1.16	0.20824	.	0.054326	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5681	13.5891	0.61948	0.0:0.0:0.4641:0.5358	.	.	.	.	X	158;91;129;129;248	.	ENSP00000265440:R158X	R	-	1	2	TFEC	115378207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.181000	0.42547	0.196000	0.20367	0.655000	0.94253	CGA		0.299	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		15	43	0	0	0	1	0	15	43					A	115590971	G	A	115590971	4	1	311	1	0	0	0	0	0	1	0	0	15799	1124	39	1	583	1	TFEC	7	115590971	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12921813	115590971	43547692	249	31323											
CADPS2	93664	broad.mit.edu	37	chr7	121965555	121965555	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acaatcttgatgagcgtcttCagctggtaaatatggagttg	11	6	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:121965555C>G	ENST00000449022.2	-	29	3712	c.3693G>C	c.(3691-3693)ctG>ctC	p.L1231L	RP5-1101C3.1_ENST00000482375.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000313070.7_Silent_p.L1190L|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000334010.7_Silent_p.L1229L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1231					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						TGAGCGTCTTCAGCTGGTAAA	0.398																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(3685-3687)ctG>ctC		Ca++-dependent secretion activator 2							115	101	106					7																	121965555		1882	4104	5986	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121965555C>G		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.3693G>C	7.37:g.121965555C>G						CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000313070.7_Silent_p.L1190L|CADPS2_ENST00000449022.2_Silent_p.L1231L	p.L1229L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			27	4108	-			1231					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.3687G>C	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.405|7.405	0.633576|0.633576	0.14322|0.14322	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000462699	.|.	.|.	.|.	5.96|5.96	5.09|5.09	0.68999|0.68999	.|.	.|.	.|.	.|.	.|.	T|.	0.62804|.	0.2458|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61476|.	-0.7055|.	4|.	.|.	.|.	.|.	-12.1941|-12.1941	11.0421|11.0421	0.47838|0.47838	0.0:0.8596:0.0:0.1404|0.0:0.8596:0.0:0.1404	.|.	.|.	.|.	.|.	Q|S	834|425	.|.	.|.	E|X	-|-	1|2	0|2	CADPS2|CADPS2	121752791|121752791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.969000|1.969000	0.40510|0.40510	1.537000|1.537000	0.49254|0.49254	0.650000|0.650000	0.86243|0.86243	GAA|TGA		0.398	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		8	15	0	0	0	1	0	8	15					G	121965555	C	G	121965555	2	3	311	1	0	0	0	0	0	0	0	1	2571	813	29	4		4	CADPS2	7	121965555	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6374584	121965555	37173108	250	31324											
FLNC	2318	broad.mit.edu	37	chr7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacactgtcaagtacaccGctgtccagcaggtgcgctct	9	15	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	ENST00000325888.8	+	18	3061	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	934					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						CAAGTACACCGCTGTCCAGCA	0.612																																						ENST00000325888.8																			0				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						c.(2800-2802)Gct>Act		filamin C, gamma							88	95	93					7																	128483620		2145	4219	6364	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128483620G>A	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.2800G>A	7.37:g.128483620G>A	ENSP00000327145:p.Ala934Thr					FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			18	3061	+			934					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2800G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759952	0.69763	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91577	-2.87;-2.87	5.32	4.41	0.53225	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.056620	0.64402	D	0.000001	D	0.94208	0.8141	M	0.63428	1.95	0.50313	D	0.999864	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.764	D	0.94621	0.7813	10	0.87932	D	0	.	15.1961	0.73088	0.0:0.2844:0.7156:0.0	.	934;934	Q14315-2;Q14315	.;FLNC_HUMAN	T	934	ENSP00000327145:A934T;ENSP00000344002:A934T	ENSP00000327145:A934T	A	+	1	0	FLNC	128270856	0.997000	0.39634	0.324000	0.25361	0.557000	0.35523	2.546000	0.45778	1.183000	0.42943	0.561000	0.74099	GCT		0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			43	79	0	0	0	1	0	43	79					A	128483620	G	A	128483620	3	1	311	1	0	0	0	0	1	0	0	0	5935	1087	38	1	2870	1	FLNC	7	128483620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6518065	128483620	30655043	251	31325											
C7orf45	136263	broad.mit.edu	37	chr7	129856218	129856218	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggttggcgcaccattccCgacagaagccttcagtaaca	9	12	1	1	rs146470357		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:129856218C>T	ENST00000297819.3	+	3	694	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	215						integral component of membrane (GO:0016021)		p.R215R(1)									GCACCATTCCCGACAGAAGCC	0.438																																						ENST00000297819.3																			1	Substitution - coding silent(1)	p.R215R(1)	lung(1)								c.(643-645)Cga>Tga		serine-rich single-pass membrane protein 1		C	stop/ARG	0,4406		0,0,2203	136	143	140		643	3.4	0.9	7	dbSNP_134	140	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	C7orf45	NM_145268.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		215/245	129856218	2,13004	2203	4300	6503	SO:0001587	stop_gained	136263							g.chr7:129856218C>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.643C>T	7.37:g.129856218C>T	ENSP00000297819:p.Arg215*						p.R215*	NM_145268.3	NP_660311.1					3	694	+									Nonsense_Mutation	SNP	ENST00000297819.3	37	c.643C>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.690510	0.29962	0.0	2.33E-4	ENSG00000165120	ENST00000297819	.	.	.	5.26	3.43	0.39272	.	1.068870	0.07238	N	0.863758	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-0.0169	4.6353	0.12521	0.1749:0.645:0.0:0.18	.	.	.	.	X	215	.	ENSP00000297819:R215X	R	+	1	2	C7orf45	129643454	0.886000	0.30341	0.868000	0.34077	0.005000	0.04900	1.414000	0.34736	1.354000	0.45846	0.491000	0.48974	CGA		0.438	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		119	192	0	0	0	1	0	119	192					T	129856218	C	T	129856218	4	4	311	1	0	0	0	0	0	1	0	0	2395	644	23	1	653	1	C7orf45	7	129856218	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1372598	129856218	29282445	252	31326											
SLC13A4	26266	broad.mit.edu	37	chr7	135375977	135375977	+	Frame_Shift_Del	DEL	C	C	-													cagaagccagagcatagcctCccccaaccagaatgacaatc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	ENST00000354042.4	-	13	2104	c.1415delG	c.(1414-1416)ggafs	p.G473fs	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	473					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						AGCATAGCCTCCCCCAACCAG	0.507																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1414-1416)gafs		solute carrier family 13 (sodium/sulfate symporter), member 4							101	94	97					7																	135375977		2203	4300	6503	SO:0001589	frameshift_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135375977delC	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.1415delG	7.37:g.135375977delC	ENSP00000297282:p.Gly473fs					C7orf73_ENST00000422968.1_Intron	p.G473fs	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			13	2104	-			473					A4D1Q4|Q8N631	Frame_Shift_Del	DEL	ENST00000354042.4	37	c.1415delG	CCDS5840.1																																																																																				0.507	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		36	62						36	62	---	---	---	---	-	135375977	C	-	135375977	7	5	311	1	0	1	0	1	0	0	0	0	14394	855	30	0	481	0	SLC13A4	7	135375977	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	5519759	135375977	23762686	253	31327											
MGAM	8972	broad.mit.edu	37	chr7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaactaatttgtatggtgCgcagacattcttcttgtgcc	10	9	2	1	rs201997667	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	ENST00000549489.2	+	8	1000	c.905C>T	c.(904-906)gCg>gTg	p.A302V	MGAM_ENST00000475668.2_Missense_Mutation_p.A302V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	302	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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398													C|||	4	0.000798722	0.0	0.0	5008	,	,		19777	0.004		0.0	False		,,,				2504	0.0					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(904-906)gCg>gTg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	C	VAL/ALA	0,3754		0,0,1877	154	145	148		905	2.1	0.1	7		148	4,8234		0,4,4115	yes	missense	MGAM	NM_004668.2	64	0,4,5992	TT,TC,CC		0.0486,0.0,0.0334	benign	302/1858	141724872	4,11988	1877	4119	5996	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141724872C>T	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.905C>T	7.37:g.141724872C>T	ENSP00000447378:p.Ala302Val					MGAM_ENST00000549489.2_Missense_Mutation_p.A302V	p.A302V			O43451	MGA_HUMAN			8	959	+	Melanoma(164;0.0272)		302			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.905C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	8.638	0.895291	0.17613	0.0	4.86E-4	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.85702	-2.02	5.01	2.1	0.27182	Glycoside hydrolase-type carbohydrate-binding (1);	0.780556	0.11251	N	0.583645	T	0.61388	0.2343	N	0.10629	0.01	0.09310	N	1	B	0.32160	0.358	B	0.12156	0.007	T	0.52434	-0.8576	10	0.02654	T	1	.	7.5027	0.27526	0.0:0.6928:0.0:0.3072	.	302	O43451	MGA_HUMAN	V	302;302;179	ENSP00000447378:A302V	ENSP00000316431:A179V	A	+	2	0	MGAM	141371341	0.000000	0.05858	0.114000	0.21550	0.820000	0.46376	0.125000	0.15749	0.242000	0.21303	0.655000	0.94253	GCG		0.398	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			19	44	0	0	0	1	0	19	44					T	141724872	C	T	141724872	3	4	311	1	0	0	0	0	1	0	0	0	9541	768	27	1	931	1	MGAM	7	141724872	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6348895	141724872	17413791	254	31328											
EPHB6	2051	broad.mit.edu	37	chr7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G													gctggctcacctacccaccaINSgggggggtgagtgccactct							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	ENST00000392957.2	+	6	946_947	c.159_160insG	c.(160-162)gggfs	p.G54fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.G54fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	54	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					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)					CCTACCCACCAGGGGGGGTGAG	0.574																																						ENST00000392957.2																			0				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						c.(157-162)ccggggfs		EPH receptor B6																																				SO:0001589	frameshift_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561447_142561448insG	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.165dupG	7.37:g.142561454_142561454dupG	ENSP00000376684:p.Gly54fs					EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.PG53fs|EPHB6_ENST00000411471.2_Intron	p.PG53fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			6	946_947	+	Melanoma(164;0.059)		53					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	c.159_160insG	CCDS5873.2																																																																																				0.574	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	165						7	165	---	---	---	---	G	142561448	-	G	142561447	7	5	311	1	0	1	1	0	0	0	0	0	5178	175	7	0	165	0	EPHB6	7	142561447	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	836575	142561447	16577216	255	31329											
NOBOX	135935	broad.mit.edu	37	chr7	144096159	144096159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggggaaaggaagatcGgcccttcgcacaggtggggg	18	9	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	ENST00000467773.1	-	8	1352	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	NOBOX_ENST00000483238.1_Silent_p.A419A|NOBOX_ENST00000223140.5_Silent_p.A334A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	451	Pro-rich.				oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|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)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(1351-1353)gcC>gcT		NOBOX oogenesis homeobox							11	12	12					7																	144096159		1904	4113	6017	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096159G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1353C>T	7.37:g.144096159G>A						NOBOX_ENST00000223140.5_Silent_p.A334A|NOBOX_ENST00000483238.1_Silent_p.A419A	p.A451A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			8	1352	-	Melanoma(164;0.14)		451			Pro-rich.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.1353C>T																																																																																					0.632	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		11	25	0	0	0	1	0	11	25					A	144096159	G	A	144096159	2	1	311	1	0	0	0	0	0	0	0	1	10512	1103	39	1		1	NOBOX	7	144096159	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1534712	144096159	15042504	256	31330											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600796	147600796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtactactgtaactgcgaCgcggactacaagcaatggtg	11	9	0	0	rs375648820		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	ENST00000361727.3	+	14	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)			GTAACTGCGACGCGGACTACA	0.537										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(2236-2238)gaC>gaT		contactin associated protein-like 2							61	50	54					7																	147600796		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600796C>T	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.2238C>T	7.37:g.147600796C>T		HNSCC(39;0.1)					p.D746D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2754	+	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)	746			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2238C>T	CCDS5889.1																																																																																				0.537	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	26	0	0	0	1	0	15	26					T	147600796	C	T	147600796	2	4	311	1	0	0	0	0	0	0	0	1	3647	535	19	1		1	CNTNAP2	7	147600796	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3504637	147600796	11537867	257	31331											
SLC4A2	6522	broad.mit.edu	37	chr7	150761737	150761737	+	Frame_Shift_Del	DEL	G	G	-													aggcgcccgggagcctccccGactggagaaaccccgaccat					rs570492111		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	ENST00000485713.1	+	4	1382	c.342delG	c.(340-342)ccgfs	p.P114fs	SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	114	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(340-342)ccfs		solute carrier family 4 (anion exchanger), member 2							26	33	30					7																	150761737		2200	4298	6498	SO:0001589	frameshift_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761737delG		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.342delG	7.37:g.150761737delG	ENSP00000419412:p.Pro114fs					SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	p.P114fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	1382	+			114			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	c.342delG	CCDS5917.1																																																																																				0.687	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		35	61						35	61	---	---	---	---	-	150761737	G	-	150761737	7	5	311	1	0	1	0	1	0	0	0	0	14654	1045	37	0	352	0	SLC4A2	7	150761737	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	3160941	150761737	8376926	258	31332											
HTR5A	3361	broad.mit.edu	37	chr7	154862918	154862918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctggtgcacgagctgtcCgggcgccgctggcagctagg	17	13	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	ENST00000287907.2	+	1	885	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HTR5A-AS1_ENST00000543018.1_Silent_p.P32P|HTR5A-AS1_ENST00000395731.2_Silent_p.P32P|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	103					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)	ACGAGCTGTCCGGGCGCCGCT	0.677																																						ENST00000287907.2																			0				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						c.(307-309)tcC>tcT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							49	40	43					7																	154862918		2203	4299	6502	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862918C>T		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.309C>T	7.37:g.154862918C>T						AC093726.4_ENST00000395731.2_Silent_p.P32P|AC093726.4_ENST00000543018.1_Silent_p.P32P|AC093726.4_ENST00000493904.1_5'UTR	p.S103S	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	885	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	103					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.309C>T	CCDS5936.1																																																																																				0.677	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		41	58	0	0	0	1	0	41	58					T	154862918	C	T	154862918	2	4	311	1	0	0	0	0	0	0	0	1	7450	639	23	1		1	HTR5A	7	154862918	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4101181	154862918	4275745	259	31333											
RBM33	155435	broad.mit.edu	37	chr7	155457901	155457901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtttgataagcctggcGcggaacggtcgtggagaaga	15	8	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	ENST00000401878.3	+	2	274	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_ENST00000392759.3_Missense_Mutation_p.A26T|RBM33_ENST00000287912.3_Missense_Mutation_p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(76-78)Gcg>Acg		RNA binding motif protein 33							117	125	122					7																	155457901		2028	4185	6213	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155457901G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.76G>A	7.37:g.155457901G>A	ENSP00000384160:p.Ala26Thr					RBM33_ENST00000287912.3_Missense_Mutation_p.A26T|RBM33_ENST00000392759.3_Missense_Mutation_p.A26T	p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	2	274	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	26					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.76G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552632	0.86127	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759	T;T;T	0.31769	1.48;1.48;1.48	5.95	5.95	0.96441	.	.	.	.	.	T	0.53029	0.1771	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.49011	-0.8983	9	0.72032	D	0.01	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	26;26	Q96EV2;Q96EV2-2	RBM33_HUMAN;.	T	26	ENSP00000287912:A26T;ENSP00000384160:A26T;ENSP00000376513:A26T	ENSP00000287912:A26T	A	+	1	0	RBM33	155150662	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	6.140000	0.71738	2.824000	0.97209	0.655000	0.94253	GCG		0.453	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		41	59	0	0	0	1	0	41	59					A	155457901	G	A	155457901	3	1	311	1	0	0	0	0	1	0	0	0	13130	1087	38	1	82	1	RBM33	7	155457901	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	594983	155457901	3680762	260	31334											
PRSS55	203074	broad.mit.edu	37	chr8	10383214	10383214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctaggggagcccaccGccctcagccccctcatcccc	10	21	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	ENST00000328655.3	+	1	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	40						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(118-120)cGc>cAc		protease, serine, 55							39	34	36					8																	10383214		2202	4300	6502	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383214G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.119G>A	8.37:g.10383214G>A	ENSP00000333003:p.Arg40His					PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H	p.R40H	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			1	159	+			40					E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.119G>A	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	4.157	0.027584	0.08054	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.88818	-2.43;-2.38	3.44	-6.52	0.01872	.	.	.	.	.	T	0.68504	0.3008	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59337	-0.7473	9	0.14656	T	0.56	.	11.5492	0.50711	0.2575:0.0:0.7425:0.0	.	40	Q6UWB4	PRS55_HUMAN	H	40	ENSP00000333003:R40H;ENSP00000430459:R40H	ENSP00000333003:R40H	R	+	2	0	PRSS55	10420624	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.012000	0.03649	-1.474000	0.01879	-1.288000	0.01363	CGC		0.662	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		13	23	0	0	0	1	0	13	23					A	10383214	G	A	10383214	3	1	311	1	0	0	0	0	1	0	0	0	12634	1087	38	1	121	1	PRSS55	8	10383214	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		10383214	135980808	261	31335											
EPB49	2039	broad.mit.edu	37	chr8	21926949	21926949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgtgggcggacagccggtCgcctggaatcatctctcagg	16	11	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:21926949C>T	ENST00000523266.1	+	6	776	c.314C>T	c.(313-315)tCg>tTg	p.S105L	DMTN_ENST00000358242.3_Missense_Mutation_p.S105L|DMTN_ENST00000523782.2_Missense_Mutation_p.S80L|DMTN_ENST00000381470.3_Missense_Mutation_p.S105L|DMTN_ENST00000265800.5_Missense_Mutation_p.S105L|DMTN_ENST00000517600.1_Missense_Mutation_p.S65L|DMTN_ENST00000443491.2_Missense_Mutation_p.S80L|DMTN_ENST00000519907.1_Missense_Mutation_p.S105L|DMTN_ENST00000432128.1_Missense_Mutation_p.S105L|DMTN_ENST00000415253.1_Missense_Mutation_p.S105L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	105					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GACAGCCGGTCGCCTGGAATC	0.657																																						ENST00000358242.3																			0											c.(313-315)tCg>tTg		dematin actin binding protein							49	51	50					8																	21926949		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21926949C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.314C>T	8.37:g.21926949C>T	ENSP00000427866:p.Ser105Leu					DMTN_ENST00000517600.1_Missense_Mutation_p.S65L|DMTN_ENST00000523782.2_Missense_Mutation_p.S80L|DMTN_ENST00000523266.1_Missense_Mutation_p.S105L|DMTN_ENST00000443491.2_Missense_Mutation_p.S80L|DMTN_ENST00000381470.3_Missense_Mutation_p.S105L|DMTN_ENST00000415253.1_Missense_Mutation_p.S105L|DMTN_ENST00000519907.1_Missense_Mutation_p.S105L|DMTN_ENST00000432128.1_Missense_Mutation_p.S105L|DMTN_ENST00000265800.5_Missense_Mutation_p.S105L	p.S105L							6	807	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.314C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856384	0.32791	.	.	ENSG00000158856	ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.7	4.7	0.59300	.	0.368332	0.27193	N	0.020499	T	0.39118	0.1066	M	0.74467	2.265	0.39629	D	0.970147	P;B;B;B;B;B	0.40970	0.734;0.205;0.205;0.125;0.012;0.046	B;B;B;B;B;B	0.29353	0.101;0.015;0.015;0.013;0.006;0.005	T	0.53041	-0.8494	10	0.59425	D	0.04	.	13.0621	0.59012	0.0:1.0:0.0:0.0	.	44;65;105;80;80;105	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	L	80;105;105;105;80;65;65;80;80;105;105;44;105;105;105;105;105	ENSP00000429116:S80L;ENSP00000430600:S105L;ENSP00000370879:S105L;ENSP00000416111:S105L;ENSP00000397904:S80L;ENSP00000430618:S65L;ENSP00000428733:S80L;ENSP00000430382:S80L;ENSP00000428415:S105L;ENSP00000265800:S105L;ENSP00000429948:S105L;ENSP00000350977:S105L;ENSP00000401291:S105L;ENSP00000427866:S105L;ENSP00000429377:S105L	ENSP00000265800:S105L	S	+	2	0	EPB49	21982895	0.948000	0.32251	0.996000	0.52242	0.124000	0.20399	3.939000	0.56591	2.472000	0.83506	0.650000	0.86243	TCG		0.657	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		17	38	0	0	0	1	0	17	38					T	21926949	C	T	21926949	3	4	311	1	0	0	0	0	1	0	0	0	5159	893	31	1	332	1	EPB49	8	21926949	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11543735	21926949	124437073	262	31336											
BMP1	649	broad.mit.edu	37	chr8	22037987	22037987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcatctctgtcacaccCggggagaaggtacgtgtggg	16	10	2	1	rs199556894		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	ENST00000306385.5	+	8	1738	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000397814.3_Silent_p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1. {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)		CTGTCACACCCGGGGAGAAGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.0		0.001	False		,,,				2504	0.0					ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1066-1068)ccC>ccT		bone morphogenetic protein 1		C	,	1,4405	2.1+/-5.4	0,1,2202	164	141	149		1068,1068	-5.4	0.7	8		149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BMP1	NM_001199.3,NM_006129.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	356/731,356/987	22037987	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037987C>T		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.1068C>T	8.37:g.22037987C>T						BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000397814.3_Silent_p.P356P	p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1738	+			356			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1068C>T	CCDS6026.1																																																																																				0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		51	83	0	0	0	1	0	51	83					T	22037987	C	T	22037987	2	4	311	1	0	0	0	0	0	0	0	1	1456	639	23	1		1	BMP1	8	22037987	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	111038	22037987	124326035	263	31337											
CLU	1191	broad.mit.edu	37	chr8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	AG	-													gcagccccacaaacagcagcAgagtcttcatcatgcctcca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	ENST00000316403.10	-	2	418_419	c.13_14delCT	c.(13-15)ctgfs	p.L7fs	CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs|CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs|CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs			P10909	CLUS_HUMAN	clusterin	7					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(13-15)gfs		clusterin																																				SO:0001589	frameshift_variant	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27468075_27468076delAG	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"complement lysis inhibitor", "sulfated glycoprotein 2", "testosterone-repressed prostate message 2", "apolipoprotein J"	185430	"clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.13_14delCT	8.37:g.27468077_27468078delAG	ENSP00000315130:p.Leu7fs					CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs|CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs	p.L7fs			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	2	418_419	-		Ovarian(32;2.61e-05)	7					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Frame_Shift_Del	DEL	ENST00000316403.10	37	c.13_14delCT	CCDS47832.1																																																																																				0.584	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		28	41						28	41	---	---	---	---	-	27468076	AG	-	27468075	7	5	311	1	0	1	0	1	0	0	0	0	3568	188	7	0	1367	0	CLU	8	27468075	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	5430088	27468075	118895947	264	31338											
KIF13B	23303	broad.mit.edu	37	chr8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgtcccgaagactaCgtgtctttgcttggatgatt	9	10	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	ENST00000524189.1	-	23	2965	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					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)		CCGAAGACTACGTGTCTTTGC	0.388																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(2926-2928)cGt>cAt		kinesin family member 13B							85	88	87					8																	28989840		1806	4073	5879	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28989840C>T	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.2927G>A	8.37:g.28989840C>T	ENSP00000427900:p.Arg976His					CTD-2647L4.1_ENST00000523661.1_RNA	p.R976H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	23	2965	-		Ovarian(32;0.000536)	976					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2927G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710779	0.89112	.	.	ENSG00000197892	ENST00000524189	T	0.78924	-1.22	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	M	0.75447	2.3	0.80722	D	1	D	0.53745	0.962	P	0.51806	0.68	D	0.86374	0.1725	10	0.62326	D	0.03	.	17.682	0.88246	0.0:1.0:0.0:0.0	.	976	F8VPJ2	.	H	976	ENSP00000427900:R976H	ENSP00000427900:R976H	R	-	2	0	KIF13B	29045759	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.209000	0.77916	2.410000	0.81850	0.467000	0.42956	CGT		0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			30	70	0	0	0	1	0	30	70					T	28989840	C	T	28989840	3	4	311	1	0	0	0	0	1	0	0	0	8275	536	19	1	2625	1	KIF13B	8	28989840	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1521765	28989840	117374182	265	31339											
HTRA4	203100	broad.mit.edu	37	chr8	38840023	38840023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttcctttccaggaaaggCgttttcaaataagaaatatc	6	8	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	ENST00000302495.4	+	7	1221	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	374					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(1120-1122)gCg>gTg		HtrA serine peptidase 4							154	152	153					8																	38840023		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38840023C>T	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1121C>T	8.37:g.38840023C>T	ENSP00000305919:p.Ala374Val						p.A374V	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		7	1221	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	374					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.1121C>T	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	C	4.011	-0.000581	0.07819	.	.	ENSG00000169495	ENST00000302495	T	0.15834	2.39	5.21	2.23	0.28157	.	0.531484	0.17380	N	0.176327	T	0.14743	0.0356	L	0.48642	1.525	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.19679	-1.0298	10	0.36615	T	0.2	-43.9876	9.1926	0.37209	0.0:0.6491:0.0:0.3509	.	374	P83105	HTRA4_HUMAN	V	374	ENSP00000305919:A374V	ENSP00000305919:A374V	A	+	2	0	HTRA4	38959180	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.441000	0.21611	0.261000	0.21753	-1.134000	0.01955	GCG		0.428	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		16	46	0	0	0	1	0	16	46					T	38840023	C	T	38840023	3	4	311	1	0	0	0	0	1	0	0	0	7456	768	27	1	1147	1	HTRA4	8	38840023	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9850183	38840023	107523999	266	31340											
ANK1	286	broad.mit.edu	37	chr8	41554024	41554024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgcgcacgtccgtggCgggatcaccactcgcaggcc	15	16	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	ENST00000347528.4	-	26	2900	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000289734.7_Silent_p.P939P|ANK1_ENST00000396942.1_Silent_p.P939P|ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000379758.2_Silent_p.P939P	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	939	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2815-2817)ccG>ccA		ankyrin 1, erythrocytic							44	43	43					8																	41554024		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554024C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2817G>A	8.37:g.41554024C>T						ANK1_ENST00000289734.7_Silent_p.P939P|ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000347528.4_Silent_p.P939P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000379758.2_Silent_p.P939P	p.P939P			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	2900	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	939			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2817G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	6.216	0.408059	0.11754	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52253	-0.8600	4	.	.	.	.	2.9397	0.05826	0.1801:0.2443:0.1106:0.4651	.	.	.	.	T	261	.	.	A	-	1	0	ANK1	41673181	0.000000	0.05858	0.007000	0.13788	0.692000	0.40212	-9.007000	0.00014	-4.156000	0.00069	-2.303000	0.00259	GCC		0.677	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		25	45	0	0	0	1	0	25	45					T	41554024	C	T	41554024	2	4	311	1	0	0	0	0	0	0	0	1	620	755	27	1		1	ANK1	8	41554024	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2714001	41554024	104809998	267	31341											
ANK1	286	broad.mit.edu	37	chr8	41577305	41577305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgtctatctctgcgtcGtattgcaacaggagccggac	11	11	2	0	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	ENST00000347528.4	-	10	1064	c.981C>T	c.(979-981)taC>taT	p.Y327Y	ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000289734.7_Silent_p.Y327Y|ANK1_ENST00000396942.1_Silent_p.Y327Y|ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000379758.2_Silent_p.Y327Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	327	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19573	0.0		0.003	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(979-981)taC>taT		ankyrin 1, erythrocytic		G	,,,,	0,4406		0,0,2203	255	214	228		981,1080,981,981,981	5	1	8	dbSNP_129	228	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,,,	327/1881,360/1898,327/1857,327/1882,327/1720	41577305	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41577305G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.981C>T	8.37:g.41577305G>A						ANK1_ENST00000289734.7_Silent_p.Y327Y|ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000347528.4_Silent_p.Y327Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000379758.2_Silent_p.Y327Y	p.Y327Y			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		10	1064	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	327			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.981C>T	CCDS6119.1																																																																																				0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		51	103	0	0	0	1	0	51	103					A	41577305	G	A	41577305	2	1	311	1	0	0	0	0	0	0	0	1	620	1140	40	1		1	ANK1	8	41577305	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	23281	41577305	104786717	268	31342											
MTFR1	9650	broad.mit.edu	37	chr8	66620197	66620197	+	Frame_Shift_Del	DEL	A	A	-													tgatagccaagatgaagttgAaaaaggaattccaaagtctg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	ENST00000262146.4	+	7	1010	c.884delA	c.(883-885)gaafs	p.E295fs	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	295	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)			GATGAAGTTGAAAAAGGAATT	0.443																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(883-885)gafs		mitochondrial fission regulator 1							130	132	131					8																	66620197		2203	4300	6503	SO:0001589	frameshift_variant	9650					mitochondrion|plasma membrane		g.chr8:66620197delA		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.884delA	8.37:g.66620197delA	ENSP00000262146:p.Glu295fs					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs	p.E295fs	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		7	1010	+			295					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Frame_Shift_Del	DEL	ENST00000262146.4	37	c.884delA	CCDS6182.1																																																																																				0.443	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		43	125						43	125	---	---	---	---	-	66620197	A	-	66620197	7	5	311	1	0	1	0	1	0	0	0	0	9925	246	9	0	906	0	MTFR1	8	66620197	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	25042892	66620197	79743825	269	31343											
PI15	51050	broad.mit.edu	37	chr8	75737579	75737579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattccactgactcatcccCgccaaccaataatttcactg	3	16	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	ENST00000260113.2	+	2	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	32						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.P32Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478																																						ENST00000260113.2																			1	Substitution - Missense(1)	p.P32Q(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(94-96)cCg>cTg		peptidase inhibitor 15							150	144	146					8																	75737579		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737579C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.95C>T	8.37:g.75737579C>T	ENSP00000260113:p.Pro32Leu					PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	p.P32L	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	274	+	Breast(64;0.137)		32					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.95C>T	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	2.900	-0.227609	0.06022	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.06933	3.24;3.24	4.77	3.88	0.44766	.	0.725062	0.13590	N	0.376686	T	0.02304	0.0071	N	0.00926	-1.1	0.30860	N	0.733588	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.09084	T	0.74	.	5.939	0.19181	0.0:0.6496:0.1621:0.1882	.	32	O43692	PI15_HUMAN	L	32	ENSP00000260113:P32L;ENSP00000428567:P32L	ENSP00000260113:P32L	P	+	2	0	PI15	75900134	0.947000	0.32204	1.000000	0.80357	0.996000	0.88848	0.583000	0.23849	1.351000	0.45789	0.561000	0.74099	CCG		0.478	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		57	93	0	0	0	1	0	57	93					T	75737579	C	T	75737579	3	4	311	1	0	0	0	0	1	0	0	0	11868	652	23	1	97	1	PI15	8	75737579	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9117382	75737579	70626443	270	31344											
CPNE3	8895	broad.mit.edu	37	chr8	87559941	87559941	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttctcttatttttagatTacagtagaatgcacattcct	5	7	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	ENST00000521271.1	+	11	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_ENST00000198765.4_Silent_p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	274					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(820-822)atT>atC		copine III							73	64	67					8																	87559941		2201	4295	6496	SO:0001819	synonymous_variant	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87559941T>C	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.822T>C	8.37:g.87559941T>C						CPNE3_ENST00000198765.4_Silent_p.I274I	p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			11	984	+			274					A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	c.822T>C	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626508	0.28978	.	.	ENSG00000085719	ENST00000517391	.	.	.	5.8	0.563	0.17296	.	.	.	.	.	T	0.41259	0.1151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	-1.4106	0.6211	0.00778	0.2358:0.2097:0.1219:0.4326	.	.	.	.	S	163	.	.	L	+	2	0	CPNE3	87629057	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	0.683000	0.25349	-0.119000	0.11830	0.533000	0.62120	TTA		0.308	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			7	10	0	0	0	1	0	7	10					C	87559941	T	C	87559941	2	2	311	1	0	0	0	0	0	0	0	1	3813	1742	61	3		3	CPNE3	8	87559941	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	11822362	87559941	58804081	271	31345											
RUNX1T1	862	broad.mit.edu	37	chr8	92972726	92972726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtttcactcgctttaCggccacaattccagcaactc	7	14	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	ENST00000523629.1	-	12	2013	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H	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)	520					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)	p.R483H(2)|p.R520H(2)		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)			ACTCGCTTTACGGCCACAATT	0.458																																						ENST00000523629.1																			4	Substitution - Missense(4)	p.R483H(2)|p.R520H(2)	lung(2)|breast(2)	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						c.(1558-1560)cGt>cAt		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							60	58	59					8																	92972726		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972726C>T	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.1559G>A	8.37:g.92972726C>T	ENSP00000428543:p.Arg520His					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H	p.R520H	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	BRCA - Breast invasive adenocarcinoma(11;0.0141)		12	2013	-			520					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1559G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670730	0.88348	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	6.06	6.06	0.98353	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.74258	2.255	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;1.0;1.0;0.998	T	0.72171	-0.4371	10	0.87932	D	0	-12.6099	20.6208	0.99490	0.0:1.0:0.0:0.0	.	531;483;520;493	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	520;493;520;483;483;483;531;493	ENSP00000428543:R520H;ENSP00000379520:R493H;ENSP00000265814:R520H;ENSP00000353504:R483H;ENSP00000390137:R483H;ENSP00000428742:R483H;ENSP00000402257:R531H;ENSP00000430728:R493H	ENSP00000265814:R520H	R	-	2	0	RUNX1T1	93041902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGT		0.458	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		23	39	0	0	0	1	0	23	39					T	92972726	C	T	92972726	3	4	311	1	0	0	0	0	1	0	0	0	13747	536	19	1	259	1	RUNX1T1	8	92972726	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5412785	92972726	53391296	272	31346											
VPS13B	157680	broad.mit.edu	37	chr8	100796702	100796702	+	Frame_Shift_Del	DEL	C	C	-													ggcgctctcacaaatccccaCaggtatttgagaaacaccct							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	ENST00000358544.2	+	43	8125	c.8014delC	c.(8014-8016)cagfs	p.Q2672fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2672					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)			CAAATCCCCACAGGTATTTGA	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(8014-8016)agfs		vacuolar protein sorting 13 homolog B (yeast)							82	82	82					8																	100796702		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100796702delC	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.8014delC	8.37:g.100796702delC	ENSP00000351346:p.Gln2672fs					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs	p.Q2672fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		43	8125	+	Breast(36;3.73e-07)		2672					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.8014delC	CCDS6280.1																																																																																				0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		39	69						39	69	---	---	---	---	-	100796702	C	-	100796702	7	5	311	1	0	1	0	1	0	0	0	0	17187	479	17	0	8374	0	VPS13B	8	100796702	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	7823976	100796702	45567320	273	31347											
WDR67	93594	broad.mit.edu	37	chr8	124105886	124105886	+	Frame_Shift_Del	DEL	T	T	-													ctgttttaaagataattccaTttttgcctgggaatgtgaca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:124105886delT	ENST00000287380.1	+	5	665	c.575delT	c.(574-576)attfs	p.I192fs	TBC1D31_ENST00000327098.5_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000378080.2_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000309336.3_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000521676.1_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000522420.1_Frame_Shift_Del_p.I87fs	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	192						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GATAATTCCATTTTTGCCTGG	0.348																																						ENST00000287380.1																			0											c.(574-576)atfs		TBC1 domain family, member 31							103	102	103					8																	124105886		2203	4299	6502	SO:0001589	frameshift_variant	93594							g.chr8:124105886delT	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.575delT	8.37:g.124105886delT	ENSP00000287380:p.Ile192fs					TBC1D31_ENST00000521676.1_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000378080.2_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000309336.3_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000327098.5_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000522420.1_Frame_Shift_Del_p.I87fs	p.I192fs	NM_145647.3	NP_663622.2					5	665	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Del	DEL	ENST00000287380.1	37	c.575delT	CCDS6338.1																																																																																				0.348	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		18	42						18	42	---	---	---	---	-	124105886	T	-	124105886	7	5	311	1	0	1	0	1	0	0	0	0	17315	1493	52	0	593	0	WDR67	8	124105886	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	23309184	124105886	22258136	274	31348											
EIF2C2	27161	broad.mit.edu	37	chr8	141595388	141595388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatatccttggatggggggCggcggcgcaggaggtgcaag	20	8	0	0	rs141930048		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:141595388C>T	ENST00000220592.5	-	2	157	c.45G>A	c.(43-45)ccG>ccA	p.P15P	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.P15P	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	15					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)										GGATGGGGGGCGGCGGCGCAG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15219	0.0		0.0	False		,,,				2504	0.001					ENST00000220592.5																			0											c.(43-45)ccG>ccA		argonaute RISC catalytic component 2		C	,	3,4403	6.2+/-15.9	0,3,2200	52	57	56		45,45	-8.1	0	8	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EIF2C2	NM_001164623.1,NM_012154.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	15/826,15/860	141595388	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141595388C>T	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.45G>A	8.37:g.141595388C>T						AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.P15P	p.P15P	NM_012154.3	NP_036286.2					2	157	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.45G>A	CCDS6380.1																																																																																				0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			30	62	0	0	0	1	0	30	62					T	141595388	C	T	141595388	2	4	311	1	0	0	0	0	0	0	0	1	5006	755	27	1		1	EIF2C2	8	141595388	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	17489502	141595388	4768634	275	31349											
GPR20	2843	broad.mit.edu	37	chr8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtagaccacgaggctcGtgtggtgtggcatgtcgggc	18	9	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(820-822)aCg>aTg		G protein-coupled receptor 20							61	47	52					8																	142367203		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367203G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.821C>T	8.37:g.142367203G>A	ENSP00000366970:p.Thr274Met						p.T274M	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	911	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		274					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.821C>T	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223515	0.09863	.	.	ENSG00000204882	ENST00000377741	T	0.72615	-0.67	4.84	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.532577	0.17861	U	0.159536	T	0.55049	0.1896	L	0.31207	0.915	0.09310	N	1	P	0.44344	0.833	B	0.42112	0.376	T	0.43360	-0.9396	10	0.35671	T	0.21	-0.627	6.1711	0.20418	0.4768:0.0:0.5232:0.0	.	274	Q99678	GPR20_HUMAN	M	274	ENSP00000366970:T274M	ENSP00000366970:T274M	T	-	2	0	GPR20	142436385	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	1.024000	0.30077	0.445000	0.26639	0.462000	0.41574	ACG		0.637	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		11	45	0	0	0	1	0	11	45					A	142367203	G	A	142367203	3	1	311	1	0	0	0	0	1	0	0	0	6680	1145	40	1	259	1	GPR20	8	142367203	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	771815	142367203	3996819	276	31350											
ARC	23237	broad.mit.edu	37	chr8	143694472	143694472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtccggtcactggccacGgactcgctgttgggggcggg	19	11	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	ENST00000356613.2	-	1	2361	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701																																						ENST00000356613.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1159-1161)tcC>tcT		activity-regulated cytoskeleton-associated protein							6	8	8					8																	143694472		2155	4243	6398	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694472G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1161C>T	8.37:g.143694472G>A							p.S387S	NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN			1	2361	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	387					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1161C>T	CCDS34950.1																																																																																				0.701	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			11	11	0	0	0	1	0	11	11					A	143694472	G	A	143694472	2	1	311	1	0	0	0	0	0	0	0	1	841	1103	39	1		1	ARC	8	143694472	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1327269	143694472	2669550	277	31351											
ZFP41	286128	broad.mit.edu	37	chr8	144332526	144332526	+	Silent	SNP	C	C	T													cacaccggggagaagccctaCgaatgcacgcactgtgggaa					rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	ENST00000330701.4	+	2	882	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	171					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|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)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(511-513)taC>taT		ZFP41 zinc finger protein		C		3,4403	6.2+/-15.9	0,3,2200	80	89	86		513	-4.9	0	8	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	ZFP41	NM_173832.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		171/199	144332526	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332526C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.513C>T	8.37:g.144332526C>T						ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	p.Y171Y	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	882	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		171					D3DWJ5	Silent	SNP	ENST00000330701.4	37	c.513C>T	CCDS6397.1																																																																																				0.592	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		40	114	0	0	0	1	0	40	114					T	144332526	C	T	144332526	2	4	311	1	0	0	0	0	0	0	0	1	17646	547	19	1		1	ZFP41	8	144332526	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	638054	144332526	2031496	278	31352	142	2									
ZFP41	286128	broad.mit.edu	37	chr8	144332534	144332534	+	Missense_Mutation	SNP	C	C	T													ggagaagccctacgaatgcaCgcactgtgggaaagcctttg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	ENST00000330701.4	+	2	890	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	174					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|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)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(520-522)aCg>aTg		ZFP41 zinc finger protein							78	87	84					8																	144332534		2203	4300	6503	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332534C>T		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.521C>T	8.37:g.144332534C>T	ENSP00000327427:p.Thr174Met					ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	p.T174M	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	890	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		174					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.521C>T	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	C	1.847	-0.466090	0.04476	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.07800	3.16;3.16;3.16	3.3	-3.73	0.04398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	L	0.52266	1.64	0.09310	N	1	B	0.23591	0.088	B	0.23150	0.044	T	0.40403	-0.9565	9	0.56958	D	0.05	-3.3303	2.2953	0.04149	0.2036:0.4482:0.2067:0.1415	.	174	Q8N8Y5	ZFP41_HUMAN	M	174	ENSP00000430465:T174M;ENSP00000327427:T174M;ENSP00000428966:T174M	ENSP00000327427:T174M	T	+	2	0	ZFP41	144403909	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.892000	0.04131	-0.630000	0.05567	-1.510000	0.00946	ACG		0.592	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		42	112	0	0	0	1	0	42	112					T	144332534	C	T	144332534	3	4	311	1	0	0	0	0	1	0	0	0	17646	536	19	1	523	1	ZFP41	8	144332534	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8	144332534	2031488	279	31353	142	2									
PLEC	5339	broad.mit.edu	37	chr8	144991396	144991396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgtactggcgcccggagCggcggtcgatgatcatggac	16	11	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	ENST00000322810.4	-	32	13173	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4335	Globular 2.				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						GCGCCCGGAGCGGCGGTCGAT	0.637																																						ENST00000322810.4																			0				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						c.(13003-13005)cGc>cAc		plectin							49	58	55					8																	144991396		2104	4216	6320	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991396C>T	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.13004G>A	8.37:g.144991396C>T	ENSP00000323856:p.Arg4335His					PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H	p.R4335H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13173	-			4335			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13004G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.421159	0.42918	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.24	5.24	0.73138	.	0.000000	0.64402	U	0.000010	T	0.79003	0.4373	L	0.51422	1.61	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999	T	0.80266	-0.1454	10	0.87932	D	0	.	18.6231	0.91328	0.0:1.0:0.0:0.0	.	4225;4184;4176;4335;4166;4198;4202;4198	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	4198;4202;4198;4166;4335;4176;4184;4225;4221	ENSP00000344848:R4198H;ENSP00000350277:R4202H;ENSP00000346602:R4198H;ENSP00000381756:R4166H;ENSP00000323856:R4335H;ENSP00000347044:R4176H;ENSP00000348702:R4184H;ENSP00000388180:R4225H;ENSP00000434583:R4221H	ENSP00000323856:R4335H	R	-	2	0	PLEC	145063384	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.880000	0.69698	2.726000	0.93360	0.549000	0.68633	CGC		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		21	47	0	0	0	1	0	21	47					T	144991396	C	T	144991396	3	4	311	1	0	0	0	0	1	0	0	0	12052	768	27	1	1054	1	PLEC	8	144991396	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	658862	144991396	1372626	280	31354											
PLEC	5339	broad.mit.edu	37	chr8	144999421	144999421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgtacctgccgcgctCgctccacctcggcctgccgc	9	22	0	0	rs371895113		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	ENST00000322810.4	-	31	5256	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1696	Central fibrous rod domain.				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						CTGCCGCGCTCGCTCCACCTC	0.741																																						ENST00000322810.4																			0				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						c.(5086-5088)cGa>cAa		plectin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3312		0,0,1656	6	6	6		4757,4634,4610,5087,4580,4676,4688,4676	3.7	0.8	8		6	2,6902		0,2,3450	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	43,43,43,43,43,43,43,43	0,2,5106	TT,TC,CC		0.029,0.0,0.0196	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1586/4575,1545/4534,1537/4526,1696/4685,1527/4516,1559/4548,1563/4552,1559/4548	144999421	2,10214	1656	3452	5108	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144999421C>T	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.5087G>A	8.37:g.144999421C>T	ENSP00000323856:p.Arg1696Gln					PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q	p.R1696Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5256	-			1696			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.5087G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627039	0.28978	0.0	2.9E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-0.98;-0.98;-1.02;-1.03;-1.0;-0.99;-1.0;-0.98;-0.98	4.71	3.69	0.42338	.	0.099514	0.39083	U	0.001465	T	0.46541	0.1398	N	0.08118	0	0.30997	N	0.720798	P;P;P;P;P;P;P;P	0.43633	0.813;0.709;0.709;0.716;0.709;0.709;0.813;0.813	B;B;B;B;B;B;B;B	0.31495	0.131;0.131;0.131;0.062;0.131;0.131;0.131;0.131	T	0.51826	-0.8656	10	0.29301	T	0.29	.	3.311	0.07016	0.0:0.5804:0.0:0.4196	.	1586;1545;1537;1696;1527;1559;1563;1559	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1559;1563;1559;1527;1696;1537;1545;1586;1582	ENSP00000344848:R1559Q;ENSP00000350277:R1563Q;ENSP00000346602:R1559Q;ENSP00000381756:R1527Q;ENSP00000323856:R1696Q;ENSP00000347044:R1537Q;ENSP00000348702:R1545Q;ENSP00000388180:R1586Q;ENSP00000434583:R1582Q	ENSP00000323856:R1696Q	R	-	2	0	PLEC	145071409	0.939000	0.31865	0.808000	0.32385	0.052000	0.14988	2.001000	0.40825	2.166000	0.68216	0.542000	0.68232	CGA		0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	15	0	0	0	1	0	4	15					T	144999421	C	T	144999421	3	4	311	1	0	0	0	0	1	0	0	0	12052	884	31	1	8975	1	PLEC	8	144999421	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8025	144999421	1364601	281	31355											
PARP10	84875	broad.mit.edu	37	chr8	145058234	145058234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccacagggtgtgggcGttgccagggagcactgggag	21	8	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	ENST00000313028.7	-	7	1813	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Silent_p.N573N|PARP10_ENST00000525773.1_Silent_p.N585N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	573					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1717-1719)aaC>aaT		poly (ADP-ribose) polymerase family, member 10							54	59	57					8																	145058234		2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058234G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1719C>T	8.37:g.145058234G>A						PARP10_ENST00000524918.1_Silent_p.N573N|PARP10_ENST00000525773.1_Silent_p.N585N	p.N573N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1813	-	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)		573					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.1719C>T	CCDS34960.1																																																																																				0.662	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		13	37	0	0	0	1	0	13	37					A	145058234	G	A	145058234	2	1	311	1	0	0	0	0	0	0	0	1	11455	1136	40	1		1	PARP10	8	145058234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	58813	145058234	1305788	282	31356											
FOXD4	2298	broad.mit.edu	37	chr9	117366	117367	+	Frame_Shift_Ins	INS	-	-	G													agagcgtaagggcgtctcccINSggggccggtgttggggtagg					rs201303152	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	ENST00000382500.2	-	1	1050_1051	c.753_754insC	c.(751-756)cccgggfs	p.G252fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				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)		GGGCGTCTCCCGGGGCCGGTGT	0.728																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(751-756)ccggagfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117366_117367insG	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.754dupC	9.37:g.117370_117370dupG	ENSP00000371940:p.Gly252fs						p.E252fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	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)	1	1050_1051	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	252			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.753_754insC	CCDS34975.1																																																																																				0.728	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		8	69						8	69	---	---	---	---	G	117367	-	G	117366	7	5	311	1	0	1	1	0	0	0	0	0	5999	652	23	0	569	0	FOXD4	9	117366	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08		117366	141096065	283	31357											
KDM4C	23081	broad.mit.edu	37	chr9	6990511	6990511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttgtgaagcagcaggcGccaagtgatgaaggtgagat	14	7	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	ENST00000381309.3	+	12	2338	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Silent_p.A278A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					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						AGCAGCAGGCGCCAAGTGATG	0.408																																						ENST00000381309.3																			0				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						c.(1771-1773)gcG>gcA		lysine (K)-specific demethylase 4C							53	44	47					9																	6990511		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6990511G>A	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.1773G>A	9.37:g.6990511G>A						KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron	p.A591A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			12	2338	+			591					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.1773G>A	CCDS6471.1																																																																																				0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	31	0	0	0	1	0	5	31					A	6990511	G	A	6990511	2	1	311	1	0	0	0	0	0	0	0	1	8130	1074	38	1		1	KDM4C	9	6990511	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6873145	6990511	134222920	284	31358											
PTPRD	5789	broad.mit.edu	37	chr9	8636794	8636794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgaaagaggcaactcCgccagagacccctgtctgat	11	12	1	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	ENST00000381196.4	-	10	658	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	39	Ig-like C2-type 1.				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)	p.G39*(4)		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)		GAGGCAACTCCGCCAGAGACC	0.413										TSP Lung(15;0.13)																												ENST00000381196.4																			4	Substitution - Nonsense(4)	p.G39*(4)	lung(4)	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						c.(115-117)Gga>Aga		protein tyrosine phosphatase, receptor type, D							87	90	89					9																	8636794		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636794C>T	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.115G>A	9.37:g.8636794C>T	ENSP00000370593:p.Gly39Arg	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R	p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		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)	10	658	-		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)	39			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.115G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948245	0.92593	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	L	0.41356	1.27	0.80722	D	1	D;D;D;D;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.607;1.0;1.0;0.995;1.0	D;D;D;D;D;B;D;D;P;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.039;1.0;0.994;0.576;0.997	T	0.79383	-0.1826	9	.	.	.	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	39;39;39;39;39;39;39;39;39;39	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	39	ENSP00000370593:G39R;ENSP00000348812:G39R;ENSP00000353187:G39R;ENSP00000351293:G39R;ENSP00000347373:G39R;ENSP00000380741:G39R;ENSP00000380735:G39R;ENSP00000440515:G39R;ENSP00000438164:G39R;ENSP00000417093:G39R;ENSP00000380731:G39R;ENSP00000417661:G39R;ENSP00000417890:G39R	.	G	-	1	0	PTPRD	8626794	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	GGA		0.413	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			50	96	0	0	0	1	0	50	96					T	8636794	C	T	8636794	3	4	311	1	0	0	0	0	1	0	0	0	12799	661	23	1	5827	1	PTPRD	9	8636794	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1646283	8636794	132576637	285	31359											
CCIN	881	broad.mit.edu	37	chr9	36170732	36170732	+	Frame_Shift_Del	DEL	C	C	-													ctggcaggaaagatgagcatCcccatggatggcaccgccgt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	ENST00000335119.2	+	1	1344	c.1233delC	c.(1231-1233)atcfs	p.I411fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	411					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)			AGATGAGCATCCCCATGGATG	0.552																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1231-1233)atfs		calicin							158	116	130					9																	36170732		2203	4300	6503	SO:0001589	frameshift_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170732delC	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.1233delC	9.37:g.36170732delC	ENSP00000334996:p.Ile411fs						p.I411fs	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1344	+			411					Q9BXG7	Frame_Shift_Del	DEL	ENST00000335119.2	37	c.1233delC	CCDS6599.1																																																																																				0.552	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		21	141						21	141	---	---	---	---	-	36170732	C	-	36170732	7	5	311	1	0	1	0	1	0	0	0	0	2878	845	30	0	1235	0	CCIN	9	36170732	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	27533938	36170732	105042699	286	31360											
ZNF658	26149	broad.mit.edu	37	chr9	40774426	40774426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttattgtattcaacagcGgtggttttgtcacaggatgt	10	6	2	0	rs527598062	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:40774426G>A	ENST00000602553.1	-	5	1143	c.849C>T	c.(847-849)acC>acT	p.T283T	ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	283					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)		ATTCAACAGCGGTGGTTTTGT	0.383													G|||	3	0.000599042	0.0	0.0	5008	,	,		18795	0.002		0.0	False		,,,				2504	0.001					ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(847-849)acC>acT		zinc finger protein 658							119	124	122					9																	40774426		2203	4297	6500	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774426G>A	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.849C>T	9.37:g.40774426G>A						ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T	p.T283T			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1143	-			283					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.849C>T	CCDS35023.1																																																																																				0.383	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		8	185	0	0	0	1	0	8	185					A	40774426	G	A	40774426	2	1	311	1	0	0	0	0	0	0	0	1	18066	1103	39	1		1	ZNF658	9	40774426	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4603694	40774426	100439005	287	31361											
TRPM6	140803	broad.mit.edu	37	chr9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaagggcctgtatctgcGgagaggattgatccaaaagg	15	7	1	2	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	ENST00000360774.1	-	26	4828	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_ENST00000451710.3_Missense_Mutation_p.R1531C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					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						CTGTATCTGCGGAGAGGATTG	0.423																																						ENST00000451710.3																			0				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						c.(4591-4593)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 6		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	93	94		4576,4576,4591	2.4	0	9	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	180,180,180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	1526/2018,1526/2018,1531/2023	77376996	3,13003	2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376996G>A	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.4591C>T	9.37:g.77376996G>A	ENSP00000354006:p.Arg1531Cys					TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531C	p.R1531C			Q9BX84	TRPM6_HUMAN			26	4828	-			1531					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4591C>T	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.163|2.163	-0.391665|-0.391665	0.04932|0.04932	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000119121|ENSG00000119121	ENST00000448641|ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449	.|T;T;T;T;T	.|0.53857	.|0.69;0.69;0.69;0.69;0.6	5.33|5.33	2.44|2.44	0.29823|0.29823	.|.	.|1.118960	.|0.06509	.|N	.|0.737619	.|T	.|0.34250	.|0.0891	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.13594	.|0.004;0.008;0.008	.|B;B;B	.|0.06405	.|0.001;0.002;0.002	.|T	.|0.25916	.|-1.0118	.|10	.|0.49607	.|T	.|0.09	.|.	4.3104|4.3104	0.10967|0.10967	0.4141:0.0:0.4368:0.1491|0.4141:0.0:0.4368:0.1491	.|.	.|1531;1526;1526	.|Q9BX84;Q9BX84-3;Q9BX84-2	.|TRPM6_HUMAN;.;.	.|C	-1|1531;1531;1526;1526;1531;1104	.|ENSP00000354006:R1531C;ENSP00000407341:R1531C;ENSP00000396672:R1526C;ENSP00000354962:R1526C;ENSP00000366060:R1531C	.|ENSP00000309693:R1104C	.|R	-|-	.|1	.|0	TRPM6|TRPM6	76566816|76566816	0.241000|0.241000	0.23857|0.23857	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	0.752000|0.752000	0.26362|0.26362	0.219000|0.219000	0.20840|0.20840	-0.137000|-0.137000	0.14449|0.14449	.|CGC		0.423	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		41	70	0	0	0	1	0	41	70					A	77376996	G	A	77376996	3	1	311	1	0	0	0	0	1	0	0	0	16587	1116	39	1	1533	1	TRPM6	9	77376996	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	36602570	77376996	63836435	288	31362											
TRPM6	140803	broad.mit.edu	37	chr9	77390827	77390827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcaccctcttcttggtcGtgaggagctcgatgacagca	11	12	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	ENST00000360774.1	-	24	3612	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_ENST00000451710.3_Silent_p.H1125H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000449912.2_Silent_p.H1120H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1125					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						CTTCTTGGTCGTGAGGAGCTC	0.537																																						ENST00000451710.3																			0				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						c.(3373-3375)caC>caT		transient receptor potential cation channel, subfamily M, member 6							97	102	100					9																	77390827		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390827G>A	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.3375C>T	9.37:g.77390827G>A						TRPM6_ENST00000449912.2_Silent_p.H1120H|TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000360774.1_Silent_p.H1125H	p.H1125H			Q9BX84	TRPM6_HUMAN			24	3612	-			1125					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.3375C>T	CCDS6647.1																																																																																				0.537	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		68	108	0	0	0	1	0	68	108					A	77390827	G	A	77390827	2	1	311	1	0	0	0	0	0	0	0	1	16587	1136	40	1		1	TRPM6	9	77390827	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13831	77390827	63822604	289	31363											
FLJ46321	389763	broad.mit.edu	37	chr9	84607751	84607751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcacctgttgcatggtcCggagacttcttcagacaagg	11	10	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:84607751C>T	ENST00000344803.2	+	4	2413	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	789					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTGCATGGTCCGGAGACTTCT	0.478																																						ENST00000344803.2																			0											c.(2365-2367)cCg>cTg		SPATA31 subfamily D, member 1							112	103	106					9																	84607751		1916	4124	6040	SO:0001583	missense	389763							g.chr9:84607751C>T		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.2366C>T	9.37:g.84607751C>T	ENSP00000341988:p.Pro789Leu						p.P789L	NM_001001670.2	NP_001001670.1					4	2413	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2366C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	c	6.753	0.507801	0.12883	.	.	ENSG00000214929	ENST00000344803	T	0.04603	3.59	2.84	-1.7	0.08159	.	2.460490	0.01506	N	0.017707	T	0.05731	0.0150	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40664	-0.9551	10	0.40728	T	0.16	1.1029	1.1399	0.01763	0.3866:0.2916:0.1904:0.1314	.	789	Q6ZQQ2	F75D1_HUMAN	L	789	ENSP00000341988:P789L	ENSP00000341988:P789L	P	+	2	0	FAM75D1	83797571	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.062000	0.03468	-0.390000	0.07774	0.455000	0.32223	CCG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		47	88	0	0	0	1	0	47	88					T	84607751	C	T	84607751	3	4	311	1	0	0	0	0	1	0	0	0	5932	652	23	1	2380	1	FLJ46321	9	84607751	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7216924	84607751	56605680	290	31364											
KIF27	55582	broad.mit.edu	37	chr9	86465050	86465050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcaactgcatcttttgttCgtgttccttttgctggaggg	11	8	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	ENST00000297814.2	-	16	3663	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1174					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						ATCTTTTGTTCGTGTTCCTTT	0.423																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3520-3522)Gaa>Aaa		kinesin family member 27							203	177	186					9																	86465050		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86465050C>T	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.3520G>A	9.37:g.86465050C>T	ENSP00000297814:p.Glu1174Lys					RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K	p.E1174K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			16	3663	-			1174					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3520G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895235	0.91962	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74632	-0.85;-0.86;-0.72	4.58	4.58	0.56647	.	0.000000	0.56097	D	0.000021	D	0.85557	0.5724	M	0.72353	2.195	0.51012	D	0.999906	D;D;P	0.89917	1.0;0.958;0.929	D;P;B	0.85130	0.997;0.45;0.203	D	0.87587	0.2488	10	0.87932	D	0	.	17.5592	0.87901	0.0:1.0:0.0:0.0	.	1077;1108;1174	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	1174;1108;1077	ENSP00000297814:E1174K;ENSP00000401688:E1108K;ENSP00000333928:E1077K	ENSP00000297814:E1174K	E	-	1	0	KIF27	85654870	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	6.826000	0.75298	2.369000	0.80426	0.436000	0.28706	GAA		0.423	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		38	161	0	0	0	1	0	38	161					T	86465050	C	T	86465050	3	4	311	1	0	0	0	0	1	0	0	0	8296	893	31	1	697	1	KIF27	9	86465050	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1857299	86465050	54748381	291	31365											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967854	88967854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtcattcatccaagcGggttgactgtagattgggtt	13	7	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	ENST00000375963.3	-	2	433	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Silent_p.P87P|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375960.2_Silent_p.P87P	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	87					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						TCATCCAAGCGGGTTGACTGT	0.433																																						ENST00000375961.2																			0				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						c.(259-261)ccC>ccT		zinc finger, CCHC domain containing 6							177	169	172					9																	88967854		2203	4300	6503	SO:0001819	synonymous_variant	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967854G>A	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.261C>T	9.37:g.88967854G>A						ZCCHC6_ENST00000375960.2_Silent_p.P87P|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.P87P	p.P87P			Q5VYS8	TUT7_HUMAN			2	475	-			87					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	c.261C>T	CCDS35057.1																																																																																				0.433	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		94	184	0	0	0	1	0	94	184					A	88967854	G	A	88967854	2	1	311	1	0	0	0	0	0	0	0	1	17589	1103	39	1		1	ZCCHC6	9	88967854	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2502804	88967854	52245577	292	31366											
SEMA4D	10507	broad.mit.edu	37	chr9	91993634	91993634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctcagtctccatctgcGtctgagtcagcgaacttcag	10	14	6	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	ENST00000450295.1	-	16	3350	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	858					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCTGCGTCTGAGTCAG	0.582																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2572-2574)gaC>gaT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							89	69	76					9																	91993634		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91993634G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2574C>T	9.37:g.91993634G>A						SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D|SEMA4D_ENST00000420987.1_Intron	p.D858D			Q92854	SEM4D_HUMAN			16	3350	-			858					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.2574C>T	CCDS6685.1																																																																																				0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		30	42	0	0	0	1	0	30	42					A	91993634	G	A	91993634	2	1	311	1	0	0	0	0	0	0	0	1	14034	1136	40	1		1	SEMA4D	9	91993634	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3025780	91993634	49219797	293	31367											
FGD3	89846	broad.mit.edu	37	chr9	95738979	95738979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggctgacaaggatgcCggcctggcccaggtaggctt	15	11	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	ENST00000375482.3	+	3	937	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	147					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						ACAAGGATGCCGGCCTGGCCC	0.637																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(439-441)gcC>gcT		FYVE, RhoGEF and PH domain containing 3							17	21	20					9																	95738979		2025	4171	6196	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738979C>T	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.441C>T	9.37:g.95738979C>T						FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000337352.6_Silent_p.A147A	p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			3	937	+			147					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.441C>T	CCDS43849.1																																																																																				0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		13	34	0	0	0	1	0	13	34					T	95738979	C	T	95738979	2	4	311	1	0	0	0	0	0	0	0	1	5834	639	23	1		1	FGD3	9	95738979	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3745345	95738979	45474452	294	31368											
PTPN3	5774	broad.mit.edu	37	chr9	112166752	112166752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggatcagcaccgtcccGctttcgaggcccttctttag	9	14	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	ENST00000374541.2	-	19	2033	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000412145.1_Silent_p.S512S|PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000446349.1_Silent_p.S467S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1534-1536)agC>agT		protein tyrosine phosphatase, non-receptor type 3							100	89	92					9																	112166752		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166752G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1929C>T	9.37:g.112166752G>A						PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S	p.S512S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			14	4089	-			643			PDZ.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1536C>T	CCDS6776.1																																																																																				0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			48	73	0	0	0	1	0	48	73					A	112166752	G	A	112166752	2	1	311	1	0	0	0	0	0	0	0	1	12789	1078	38	1		1	PTPN3	9	112166752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16427773	112166752	29046679	295	31369											
C9orf152	401546	broad.mit.edu	37	chr9	112963591	112963591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaatgcatctccaggtgCgtgtgccatggagacttggg	13	9	1	1	rs376699609		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(355-357)acG>acA		chromosome 9 open reading frame 152							95	87	90					9																	112963591		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963591C>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.357G>A	9.37:g.112963591C>T						C9orf152_ENST00000473442.1_Intron	p.T119T	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	966	-			119					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.357G>A	CCDS35102.2																																																																																				0.587	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		22	142	0	0	0	1	0	22	142					T	112963591	C	T	112963591	2	4	311	1	0	0	0	0	0	0	0	1	2463	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	796839	112963591	28249840	296	31370											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-													gacccggctttccacgagcaCttcttcttgtaagagtctgg					rs559478157		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						TCCACGAGCACTTCTTCTTGTAA	0.473																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(610-615)cac>ca		regulator of G-protein signaling 3																																				SO:0001651	inframe_deletion	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116246504_116246506delCTT	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.612_614delCTT	9.37:g.116246510_116246512delCTT	ENSP00000363255:p.Phe207del					RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del|RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del	p.HF204del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			7	821_823	+			204			C2.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	In_Frame_Del	DEL	ENST00000374140.2	37	c.612_614delCTT	CCDS43869.1																																																																																				0.473	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		38	77						38	77	---	---	---	---	-	116246506	CTT	-	116246504	7	5	311	1	0	1	0	1	0	0	0	0	13306	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	3282913	116246504	24966927	297	31371											
ZNF618	114991	broad.mit.edu	37	chr9	116811427	116811427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagatcaggacagtgtaCgtgacggattgccgggtgag	17	7	1	3	rs573623027		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	ENST00000374126.5	+	15	1944	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ZNF618_ENST00000288466.7_Silent_p.Y522Y|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	615					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(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		23311	0.001		0.0	False		,,,				2504	0.0					ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(1564-1566)taC>taT		zinc finger protein 618							115	114	114					9																	116811427		2196	4279	6475	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811427C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"Zinc fingers, C2H2-type"	29416	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 10"					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1845C>T	9.37:g.116811427C>T						ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.Y615Y	p.Y522Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	1665	+			615					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.1566C>T																																																																																					0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		27	195	0	0	0	1	0	27	195					T	116811427	C	T	116811427	2	4	311	1	0	0	0	0	0	0	0	1	18039	547	19	1		1	ZNF618	9	116811427	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	564923	116811427	24402004	298	31372											
PAPPA	5069	broad.mit.edu	37	chr9	119097282	119097282	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggggtggccctccgttcCttcgacaactttgaccccgt	11	15	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	ENST00000328252.3	+	13	3909	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_ENST00000534838.1_Silent_p.S218S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1180					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						CCCTCCGTTCCTTCGACAACT	0.642																																						ENST00000328252.3																			0				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						c.(3538-3540)tcC>tcA		pregnancy-associated plasma protein A, pappalysin 1							104	90	94					9																	119097282		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119097282C>A		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.3540C>A	9.37:g.119097282C>A						PAPPA_ENST00000534838.1_Silent_p.S218S	p.S1180S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			13	3909	+			1180					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3540C>A	CCDS6813.1																																																																																				0.642	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		62	119	1	0	4.46356e-37	1	4.61078e-37	62	119					A	119097282	C	A	119097282	2	1	311	1	0	0	0	0	0	0	0	1	11432	668	24	4		4	PAPPA	9	119097282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2285855	119097282	22116149	299	31373											
TLR4	7099	broad.mit.edu	37	chr9	120476694	120476694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagtttctgagcagtcGtgctggtatcatcttcattg	11	9	4	1	rs5030723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:120476694G>A	ENST00000355622.6	+	3	2389	c.2288G>A	c.(2287-2289)cGt>cAt	p.R763H	TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	763	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		R -> H (in dbSNP:rs5030723). {ECO:0000269|PubMed:11514453}.		activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|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 interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTGAGCAGTCGTGCTGGTATC	0.527													G|||	5	0.000998403	0.0	0.0	5008	,	,		18704	0.0		0.005	False		,,,				2504	0.0					ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(2287-2289)cGt>cAt		toll-like receptor 4		G	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	69	66	67		2288	-1.5	0	9	dbSNP_113	67	16,8584	11.9+/-42.8	0,16,4284	yes	missense	TLR4	NM_138554.3	29	0,24,6479	AA,AG,GG		0.186,0.1816,0.1845	benign	763/840	120476694	24,12982	2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476694G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2288G>A	9.37:g.120476694G>A	ENSP00000363089:p.Arg763His					TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	p.R763H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	2389	+			763		R -> H (in dbSNP:rs5030723).	TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2288G>A	CCDS6818.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	5.043	0.193585	0.09599	0.001816	0.00186	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.02579	4.24;4.24	6.03	-1.48	0.08745	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.689351	0.14465	N	0.317928	T	0.01765	0.0056	L	0.41492	1.28	0.09310	N	1	B	0.20780	0.048	B	0.18263	0.021	T	0.41088	-0.9528	10	0.36615	T	0.2	.	7.3251	0.26551	0.6332:0.1365:0.2303:0.0	rs5030723	763	O00206	TLR4_HUMAN	H	723;763	ENSP00000377997:R723H;ENSP00000363089:R763H	ENSP00000363089:R763H	R	+	2	0	TLR4	119516515	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-0.039000	0.12124	-0.121000	0.11787	-0.136000	0.14681	CGT		0.527	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		5	94	0	0	0	1	0	5	94					A	120476694	G	A	120476694	3	1	311	1	0	0	0	0	1	0	0	0	15950	1145	40	1	2298	1	TLR4	9	120476694	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1379412	120476694	20736737	300	31374											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215886	123215886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcttgaatctcagcaggtCgccctccgtggccacagtct	10	14	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	ENST00000349780.4	-	21	2820	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	881					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						CTCAGCAGGTCGCCCTCCGTG	0.552																																						ENST00000349780.4																			0				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						c.(2641-2643)Gac>Aac		CDK5 regulatory subunit associated protein 2							149	133	138					9																	123215886		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123215886C>T	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.2641G>A	9.37:g.123215886C>T	ENSP00000343818:p.Asp881Asn					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	p.D881N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			21	2820	-			881					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2641G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	9.920	1.211816	0.22289	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.16457	4.02;3.94;4.0;3.91;2.34	5.6	-3.08	0.05347	.	1.420530	0.04150	N	0.321126	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.51791	0.086;0.948;0.052;0.086	B;B;B;B	0.34418	0.008;0.182;0.003;0.008	T	0.30592	-0.9973	10	0.05436	T	0.98	.	1.2075	0.01898	0.2559:0.1842:0.1155:0.4444	.	650;881;881;275	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	N	849;881;881;881;275	ENSP00000354065:D849N;ENSP00000352258:D881N;ENSP00000343818:D881N;ENSP00000353317:D881N;ENSP00000400395:D275N	ENSP00000343818:D881N	D	-	1	0	CDK5RAP2	122255707	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.304000	0.02741	-0.229000	0.09854	-0.145000	0.13849	GAC		0.552	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		101	158	0	0	0	1	0	101	158					T	123215886	C	T	123215886	3	4	311	1	0	0	0	0	1	0	0	0	3146	884	31	1	3112	1	CDK5RAP2	9	123215886	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2739192	123215886	17997545	301	31375											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253597	123253597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtacctgaagcaacacGtccttctgattggtactttc	7	11	1	2	rs375317489		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	ENST00000349780.4	-	13	1649	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	490					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						GAAGCAACACGTCCTTCTGAT	0.294																																						ENST00000349780.4																			0				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						c.(1468-1470)gaC>gaT		CDK5 regulatory subunit associated protein 2		G	,	0,4406		0,0,2203	208	185	193		1470,1470	2.5	0.7	9		193	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDK5RAP2	NM_001011649.1,NM_018249.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	490/1815,490/1894	123253597	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123253597G>A	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.1470C>T	9.37:g.123253597G>A						CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			13	1649	-			490					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.1470C>T	CCDS6823.1																																																																																				0.294	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		17	30	0	0	0	1	0	17	30					A	123253597	G	A	123253597	2	1	311	1	0	0	0	0	0	0	0	1	3146	1136	40	1		1	CDK5RAP2	9	123253597	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	37711	123253597	17959834	302	31376											
PHF19	26147	broad.mit.edu	37	chr9	123624994	123624996	+	In_Frame_Del	DEL	CTT	CTT	-													atgcgcaggcggaagatgcaCttcttcttcttgatctcctt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	ENST00000373896.3	-	11	1252_1254	c.1000_1002delAAG	c.(1000-1002)aagdel	p.K334del	PHF19_ENST00000419155.1_In_Frame_Del_p.K125del|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	334					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1000-1002)del		PHD finger protein 19																																				SO:0001651	inframe_deletion	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123624994_123624996delCTT	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1000_1002delAAG	9.37:g.123625003_123625005delCTT	ENSP00000363003:p.Lys334del					PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_In_Frame_Del_p.K125del	p.K334del	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			11	1252_1254	-			334					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	In_Frame_Del	DEL	ENST00000373896.3	37	c.1000_1002delAAG	CCDS35116.1																																																																																				0.606	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		64	374						64	374	---	---	---	---	-	123624996	CTT	-	123624994	7	5	311	1	0	1	0	1	0	0	0	0	11829	564	20	0	760	0	PHF19	9	123624994	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	371397	123624994	17588437	303	31377											
CEP110	11064	broad.mit.edu	37	chr9	123858806	123858806	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaagttaaaatctttgCgagtcctcaatttgaaaggc	10	6	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123858806C>T	ENST00000373855.1	+	6	846	c.586C>T	c.(586-588)Cga>Tga	p.R196*	CNTRL_ENST00000373865.2_Nonsense_Mutation_p.R196*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.R196*			Q7Z7A1	CNTRL_HUMAN	centriolin	196					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						AAAATCTTTGCGAGTCCTCAA	0.303																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(586-588)Cga>Tga		centriolin							104	110	108					9																	123858806		2203	4299	6502	SO:0001587	stop_gained	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123858806C>T	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.586C>T	9.37:g.123858806C>T	ENSP00000362962:p.Arg196*					CNTRL_ENST00000373865.2_Nonsense_Mutation_p.R196*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.R196*	p.R196*			Q7Z7A1	CNTRL_HUMAN			6	846	+			196					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	c.586C>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.813214	0.96975	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	.	.	.	5.96	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3022	0.43659	0.4797:0.453:0.0:0.0674	.	.	.	.	X	196	.	ENSP00000238341:R196X	R	+	1	2	CNTRL	122898627	0.311000	0.24536	0.022000	0.16811	0.808000	0.45660	0.614000	0.24314	0.285000	0.22329	0.655000	0.94253	CGA		0.303	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		40	64	0	0	0	1	0	40	64					T	123858806	C	T	123858806	4	4	311	1	0	0	0	0	0	1	0	0	3245	760	27	1	600	1	CEP110	9	123858806	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	233812	123858806	17354625	304	31378											
OR5C1	392391	broad.mit.edu	37	chr9	125551233	125551233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactcagagaacctcaccCgggccgcggttgcccctgct	11	16	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	ENST00000373680.2	+	1	84	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	8						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)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(22-24)Cgg>Tgg		olfactory receptor, family 5, subfamily C, member 1							67	71	69					9																	125551233		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551233C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.22C>T	9.37:g.125551233C>T	ENSP00000362784:p.Arg8Trp						p.R8W	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	84	+			8					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.22C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	0.200	-1.045642	0.01997	.	.	ENSG00000148215	ENST00000373680	T	0.37058	1.22	5.04	-3.75	0.04372	.	2.047450	0.02690	N	0.110500	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07385	-1.0775	10	0.35671	T	0.21	.	1.4283	0.02328	0.1192:0.1871:0.2454:0.4483	.	8	Q8NGR4	OR5C1_HUMAN	W	8	ENSP00000362784:R8W	ENSP00000362784:R8W	R	+	1	2	OR5C1	124591054	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-2.478000	0.00984	-0.929000	0.03757	-4.077000	0.00012	CGG		0.582	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			30	139	0	0	0	1	0	30	139					T	125551233	C	T	125551233	3	4	311	1	0	0	0	0	1	0	0	0	11153	643	23	1	24	1	OR5C1	9	125551233	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1692427	125551233	15662198	305	31379											
CRB2	286204	broad.mit.edu	37	chr9	126128637	126128637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagcttccgctgcctctGttggccaggtgtgtgcgtgc	16	12	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	ENST00000373631.3	+	4	747	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	249	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(745-747)tGt>tTt		crumbs homolog 2 (Drosophila)							11	14	13					9																	126128637		2186	4275	6461	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126128637G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.746G>T	9.37:g.126128637G>T	ENSP00000362734:p.Cys249Phe					CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			4	747	+			249			EGF-like 5.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.746G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883349	0.91740	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.99992	-12.4;-12.4	5.03	5.03	0.67393	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.51477	D	0.000088	D	0.99994	0.9999	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99990	1.4008	10	0.87932	D	0	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	249;249	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	F	249	ENSP00000353092:C249F;ENSP00000362734:C249F	ENSP00000353092:C249F	C	+	2	0	CRB2	125168458	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.154000	0.77437	2.332000	0.79248	0.448000	0.29417	TGT		0.736	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		13	23	1	0	4.7546e-09	1	4.85322e-09	13	23					T	126128637	G	T	126128637	3	4	311	1	0	0	0	0	1	0	0	0	3849	1377	48	4	760	4	CRB2	9	126128637	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	577404	126128637	15084794	306	31380											
SH2D3C	10044	broad.mit.edu	37	chr9	130511902	130511902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctggtgagtgagtcccGgatgaggaagtcgccgttgc	17	9	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	ENST00000314830.8	-	5	840	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	243	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(727-729)Cgg>Tgg		SH2 domain containing 3C							53	43	46					9																	130511902		2201	4297	6498	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511902G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.727C>T	9.37:g.130511902G>A	ENSP00000317817:p.Arg243Trp					SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W	p.R243W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	840	-			243			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.727C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539921	0.85917	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380	D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	5.67	5.67	0.87782	SH2 motif (4);	0.050421	0.85682	D	0.000000	D	0.99697	0.9885	H	0.97983	4.12	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;1.0;0.999;1.0	D	0.97499	1.0059	10	0.66056	D	0.02	-8.0661	18.7488	0.91806	0.0:0.0:1.0:0.0	.	83;243;175;86;85	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	W	86;85;175;83;243;60	ENSP00000362374:R86W;ENSP00000388536:R85W;ENSP00000362373:R175W;ENSP00000362371:R83W;ENSP00000317817:R243W;ENSP00000413760:R60W	ENSP00000317817:R243W	R	-	1	2	SH2D3C	129551723	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.535000	0.60629	2.686000	0.91538	0.561000	0.74099	CGG		0.612	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		6	15	0	0	0	1	0	6	15					A	130511902	G	A	130511902	3	1	311	1	0	0	0	0	1	0	0	0	14234	1115	39	1	1887	1	SH2D3C	9	130511902	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4383265	130511902	10701529	307	31381											
TRUB2	26995	broad.mit.edu	37	chr9	131072049	131072049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagcgtgaagaagccgtcgCgcgtgcgccgcacttgggtg	16	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	ENST00000372890.4	-	8	1109	c.776G>A	c.(775-777)cGc>cAc	p.R259H	TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	259					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						GAAGCCGTCGCGCGTGCGCCG	0.582																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(775-777)cGc>cAc		TruB pseudouridine (psi) synthase family member 2							101	87	92					9																	131072049		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131072049C>T	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.776G>A	9.37:g.131072049C>T	ENSP00000361982:p.Arg259His					TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	p.R259H	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			8	1109	-			259					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.776G>A	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807663	0.70797	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.15834	2.39;2.39	5.68	5.68	0.88126	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.91354	3.2	0.80722	D	1	D	0.64830	0.994	P	0.49047	0.599	T	0.54497	-0.8285	10	0.54805	T	0.06	-20.7905	19.7837	0.96428	0.0:1.0:0.0:0.0	.	259	O95900	TRUB2_HUMAN	H	259;203	ENSP00000361982:R259H;ENSP00000438084:R203H	ENSP00000361982:R259H	R	-	2	0	TRUB2	130111870	0.988000	0.35896	0.053000	0.19242	0.044000	0.14063	6.782000	0.75073	2.672000	0.90937	0.561000	0.74099	CGC		0.582	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		27	54	0	0	0	1	0	27	54					T	131072049	C	T	131072049	3	4	311	1	0	0	0	0	1	0	0	0	16600	768	27	1	223	1	TRUB2	9	131072049	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	560147	131072049	10141382	308	31382											
SPTAN1	6709	broad.mit.edu	37	chr9	131388869	131388869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggccgagctggaccGccagatcaagagcttccgcg	13	15	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	ENST00000372731.4	+	48	6574	c.6464G>A	c.(6463-6465)cGc>cAc	p.R2155H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2160H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2155					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						GAGCTGGACCGCCAGATCAAG	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				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						c.(6478-6480)cGc>cAc		spectrin, alpha, non-erythrocytic 1							37	39	38					9																	131388869		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388869G>A	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.6464G>A	9.37:g.131388869G>A	ENSP00000361816:p.Arg2155His					SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2155H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	p.R2160H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			49	6589	+			2155					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6479G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961029	0.74016	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.51325	0.71;0.71;0.71	5.53	4.64	0.57946	.	0.178101	0.51477	N	0.000086	T	0.51483	0.1677	L	0.49126	1.545	0.58432	D	0.999996	P;B;P	0.44659	0.84;0.001;0.831	P;B;B	0.48189	0.57;0.001;0.283	T	0.54925	-0.8220	10	0.62326	D	0.03	.	14.017	0.64529	0.0723:0.0:0.9277:0.0	.	2135;2160;2155	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	H	2160;2155;2160;2135;404	ENSP00000350882:R2160H;ENSP00000361816:R2155H;ENSP00000361824:R2160H	ENSP00000350882:R2160H	R	+	2	0	SPTAN1	130428690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.080000	0.71299	1.336000	0.45506	0.563000	0.77884	CGC		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		14	62	0	0	0	1	0	14	62					A	131388869	G	A	131388869	3	1	311	1	0	0	0	0	1	0	0	0	15116	1087	38	1	6669	1	SPTAN1	9	131388869	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	316820	131388869	9824562	309	31383											
USP20	10868	broad.mit.edu	37	chr9	132631191	132631191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcgcccctgcagccccGtccaccaccacgagggccat	8	22	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	ENST00000315480.4	+	12	1344	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_ENST00000372429.3_Missense_Mutation_p.V396I|USP20_ENST00000358355.1_Missense_Mutation_p.V396I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	396	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)				CTGCAGCCCCGTCCACCACCA	0.672																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1186-1188)Gtc>Atc		ubiquitin specific peptidase 20							37	45	43					9																	132631191		2130	4234	6364	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132631191G>A	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.1186G>A	9.37:g.132631191G>A	ENSP00000313811:p.Val396Ile					USP20_ENST00000372429.3_Missense_Mutation_p.V396I|USP20_ENST00000358355.1_Missense_Mutation_p.V396I	p.V396I			Q9Y2K6	UBP20_HUMAN			12	1344	+		Ovarian(14;0.00556)	396					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1186G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398260	0.42512	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.18810	2.19;2.19;2.19	4.94	3.08	0.35506	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.650980	0.01002	N	0.003682	T	0.18299	0.0439	L	0.33485	1.01	0.39185	D	0.962851	B	0.32128	0.357	B	0.25140	0.058	T	0.03933	-1.0991	10	0.31617	T	0.26	.	8.7592	0.34665	0.1764:0.0:0.8236:0.0	.	396	Q9Y2K6	UBP20_HUMAN	I	396	ENSP00000361506:V396I;ENSP00000313811:V396I;ENSP00000351122:V396I	ENSP00000313811:V396I	V	+	1	0	USP20	131671012	0.181000	0.23161	0.677000	0.29947	0.943000	0.58893	1.429000	0.34903	0.480000	0.27534	0.561000	0.74099	GTC		0.672	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			15	96	0	0	0	1	0	15	96					A	132631191	G	A	132631191	3	1	311	1	0	0	0	0	1	0	0	0	17049	1145	40	1	1224	1	USP20	9	132631191	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1242322	132631191	8582240	310	31384											
FIBCD1	84929	broad.mit.edu	37	chr9	133780652	133780652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtcagccacggtgagCgggtacccgtcttcctcagg	13	12	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	ENST00000372338.4	-	6	1337	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_ENST00000372337.2_Silent_p.P207P|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.P365P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	365	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1093-1095)ccG>ccA		fibrinogen C domain containing 1							50	44	46					9																	133780652		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133780652C>T	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1095G>A	9.37:g.133780652C>T						FIBCD1_ENST00000372337.2_Silent_p.P207P|FIBCD1_ENST00000448616.1_Silent_p.P365P|FIBCD1_ENST00000253018.4_Intron	p.P365P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	6	1337	-	all_hematologic(7;0.0028)		365			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1095G>A	CCDS6937.1																																																																																				0.657	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		15	46	0	0	0	1	0	15	46					T	133780652	C	T	133780652	2	4	311	1	0	0	0	0	0	0	0	1	5884	755	27	1		1	FIBCD1	9	133780652	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1149461	133780652	7432779	311	31385											
BRD3	8019	broad.mit.edu	37	chr9	136910513	136910513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcagcaaagccctgtgCgtctgggtactctcggccat	11	13	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	ENST00000303407.7	-	7	1302	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_ENST00000371834.2_Missense_Mutation_p.A373T|BRD3_ENST00000357885.2_Missense_Mutation_p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	373	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)	p.A373T(2)	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)		AAGCCCTGTGCGTCTGGGTAC	0.592			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	2	Substitution - Missense(2)	p.A373T(2)	large_intestine(1)|endometrium(1)	kidney(1)|skin(1)|stomach(4)	6						c.(1117-1119)Gca>Aca		bromodomain containing 3							176	144	155					9																	136910513		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136910513C>T		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.1117G>A	9.37:g.136910513C>T	ENSP00000305918:p.Ala373Thr					BRD3_ENST00000357885.2_Missense_Mutation_p.A373T|BRD3_ENST00000371834.2_Missense_Mutation_p.A373T	p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	7	1302	-			373			Bromo 2.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1117G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256591	0.95336	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.33654	1.4;1.4;1.4	4.69	4.69	0.59074	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.49440	0.1557	L	0.35793	1.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67103	0.942;0.949	T	0.50972	-0.8764	10	0.54805	T	0.06	-18.9639	16.5874	0.84731	0.0:1.0:0.0:0.0	.	373;373	Q15059-2;Q15059	.;BRD3_HUMAN	T	373;52;373;373	ENSP00000305918:A373T;ENSP00000360900:A373T;ENSP00000350557:A373T	ENSP00000305918:A373T	A	-	1	0	BRD3	135900334	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.857000	0.69525	2.137000	0.66172	0.561000	0.74099	GCA		0.592	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		38	230	0	0	0	1	0	38	230					T	136910513	C	T	136910513	3	4	311	1	0	0	0	0	1	0	0	0	1503	768	27	1	1087	1	BRD3	9	136910513	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3129861	136910513	4302918	312	31386											
KIAA0649	9858	broad.mit.edu	37	chr9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-													cacacgcagccagagggccaGgggggtcccacatctggccg					rs577235079		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:138379043delG	ENST00000356818.2	+	4	3236	c.2687delG	c.(2686-2688)aggfs	p.R896fs	PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	896					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAGGGCCAGGGGGGTCCCA	0.701																																						ENST00000356818.2																			0											c.(2686-2688)agfs		protein phosphatase 1, regulatory subunit 26							28	36	33					9																	138379043		2103	4123	6226	SO:0001589	frameshift_variant	9858					nucleolus	protein binding	g.chr9:138379043delG	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.2687delG	9.37:g.138379043delG	ENSP00000349274:p.Arg896fs					PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs	p.R896fs	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3236	+			896					Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	ENST00000356818.2	37	c.2687delG	CCDS6988.1																																																																																				0.701	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		71	137						71	137	---	---	---	---	-	138379043	G	-	138379043	7	5	311	1	0	1	0	1	0	0	0	0	8187	1000	35	0	2689	0	KIAA0649	9	138379043	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1468530	138379043	2834388	313	31387											
NOTCH1	4851	broad.mit.edu	37	chr9	139401406	139401406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggattgcagtcgtccacGttgatctcacagtgcacacc	12	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	ENST00000277541.6	-	23	3738	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1221	EGF-like 32; 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)		AGTCGTCCACGTTGATCTCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(3661-3663)aaC>aaT		notch 1							12	14	13					9																	139401406		2020	4162	6182	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401406G>A	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.3663C>T	9.37:g.139401406G>A		HNSCC(8;0.001)					p.N1221N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	23	3738	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1221			EGF-like 32; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.3663C>T	CCDS43905.1																																																																																				0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	24	0	0	0	1	0	14	24					A	139401406	G	A	139401406	2	1	311	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139401406	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1022363	139401406	1812025	314	31388											
CLIC3	9022	broad.mit.edu	37	chr9	139889178	139889178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccgccaggatctcggcGctgtgcggacacgtgtattt	14	11	1	0	rs367720170		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	ENST00000494426.1	-	6	925	c.666C>T	c.(664-666)agC>agT	p.S222S	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	222	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677																																						ENST00000494426.1																			0				lung(1)|skin(1)	2						c.(664-666)agC>agT		chloride intracellular channel 3		G		0,4376		0,0,2188	25	28	27		666	1.3	0	9		27	1,8585		0,1,4292	no	coding-synonymous	CLIC3	NM_004669.2		0,1,6480	AA,AG,GG		0.0116,0.0,0.0077		222/237	139889178	1,12961	2188	4293	6481	SO:0001819	synonymous_variant	9022				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity	g.chr9:139889178G>A	AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"Ion channels / Chloride channels : Intracellular"	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.666C>T	9.37:g.139889178G>A						CLIC3_ENST00000480181.1_5'UTR	p.S222S	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	925	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	222			GST C-terminal.		Q5SPZ7	Silent	SNP	ENST00000494426.1	37	c.666C>T	CCDS7021.1																																																																																				0.677	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055173.2	NM_004669		21	24	0	0	0	1	0	21	24					A	139889178	G	A	139889178	2	1	311	1	0	0	0	0	0	0	0	1	3527	1078	38	1		1	CLIC3	9	139889178	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	487772	139889178	1324253	315	31389											
TUBB2C	10383	broad.mit.edu	37	chr9	140137526	140137526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtaccgggcgctgaccGtgcccgagctcacccagcag	13	16	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140137526G>A	ENST00000340384.4	+	4	1004	c.856G>A	c.(856-858)Gtg>Atg	p.V286M		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	286					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	GGCGCTGACCGTGCCCGAGCT	0.657																																						ENST00000340384.4																			0											c.(856-858)Gtg>Atg		tubulin, beta 4B class IVb							34	37	36					9																	140137526		2201	4285	6486	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137526G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"Tubulins"	20771	protein-coding gene	gene with protein product	"class IVb beta-tubulin"	602660	"tubulin, beta 2C"	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.856G>A	9.37:g.140137526G>A	ENSP00000341289:p.Val286Met						p.V286M	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			4	1004	+			286					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.856G>A	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474849	0.26511	.	.	ENSG00000188229	ENST00000340384	D	0.88046	-2.33	5.57	3.75	0.43078	.	0.000000	0.64402	D	0.000003	D	0.94611	0.8263	H	0.94462	3.54	0.52501	D	0.999957	D	0.76494	0.999	D	0.79108	0.992	D	0.94534	0.7739	10	0.87932	D	0	.	11.2447	0.48990	0.1495:0.0:0.8505:0.0	.	286	P68371	TBB4B_HUMAN	M	286	ENSP00000341289:V286M	ENSP00000341289:V286M	V	+	1	0	TUBB2C	139257347	1.000000	0.71417	0.860000	0.33809	0.167000	0.22549	7.829000	0.86735	0.729000	0.32403	0.655000	0.94253	GTG		0.657	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		31	113	0	0	0	1	0	31	113					A	140137526	G	A	140137526	3	1	311	1	0	0	0	0	1	0	0	0	16753	1145	40	1	870	1	TUBB2C	9	140137526	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	248348	140137526	1075905	316	31390											
EHMT1	79813	broad.mit.edu	37	chr9	140706066	140706066	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccgctacgactgtgtcGtgtgagtgcagtgcttcccc	12	12	0	2	rs181347484	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	ENST00000460843.1	+	19	2893	c.2866G>A	c.(2866-2868)Gtc>Atc	p.V956I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	956					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)		CGACTGTGTCGTGTGAGTGCA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		19788	0.002		0.0	False		,,,				2504	0.0					ENST00000460843.1																			0				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						c.e19+1		euchromatic histone-lysine N-methyltransferase 1							58	48	51					9																	140706066		2203	4300	6503	SO:0001630	splice_region_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140706066G>A	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.2867+1G>A	9.37:g.140706066G>A							p.V956_splice	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	19	2893	+	all_cancers(76;0.164)		956					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Splice_Site	SNP	ENST00000460843.1	37	c.2867_splice	CCDS7050.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.13	2.743035	0.49151	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.63744	-0.06	5.06	4.16	0.48862	Ankyrin repeat-containing domain (4);	0.228773	0.44902	D	0.000420	T	0.44746	0.1308	N	0.21282	0.65	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	T	0.30794	-0.9966	10	0.30078	T	0.28	.	9.2473	0.37534	0.0772:0.1564:0.7664:0.0	.	956	Q9H9B1	EHMT1_HUMAN	I	925;956	ENSP00000417980:V956I	ENSP00000360453:V925I	V	+	1	0	EHMT1	139825887	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.447000	0.60020	1.228000	0.43614	0.655000	0.94253	GTC		0.642	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	Missense_Mutation	41	50	0	0	0	1	0	41	50					A	140706066	G	A	140706066	5	1	311	1	0	0	0	0	0	0	1	0	4983	1159	40	1	2989	1	EHMT1	9	140706066	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	568540	140706066	507365	317	31391											
ITIH5	80760	broad.mit.edu	37	chr10	7618615	7618615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccttctccggttcatcGtcactttgcagccaggagct	9	15	3	0	rs181083224		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:7618615G>A	ENST00000256861.6	-	10	1857	c.1779C>T	c.(1777-1779)gaC>gaT	p.D593D	ITIH5_ENST00000397145.2_Silent_p.D593D|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.D593D|ITIH5_ENST00000298441.6_Silent_p.D379D|ITIH5_ENST00000446830.2_Silent_p.D375D	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	593					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						CCGGTTCATCGTCACTTTGCA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18313	0.0		0.001	False		,,,				2504	0.0					ENST00000256861.6																			0				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						c.(1777-1779)gaC>gaT		inter-alpha-trypsin inhibitor heavy chain family, member 5							45	45	45					10																	7618615		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618615G>A			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.1779C>T	10.37:g.7618615G>A						ITIH5_ENST00000397146.2_Silent_p.D593D|ITIH5_ENST00000397145.2_Silent_p.D593D|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.D379D|ITIH5_ENST00000446830.2_Silent_p.D375D	p.D593D	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1857	-			593					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1779C>T																																																																																					0.647	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	82	0	0	0	1	0	4	82					A	7618615	G	A	7618615	2	1	311	1	0	0	0	0	0	0	0	1	7907	1136	40	1		1	ITIH5	10	7618615	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		7618615	127916132	318	31392											
TAF3	83860	broad.mit.edu	37	chr10	8007427	8007427	+	Frame_Shift_Del	DEL	C	C	-													ataagatgaaagccccagcaCccccactggtgttgccccca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	ENST00000344293.5	+	3	2160	c.1954delC	c.(1954-1956)cccfs	p.P653fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	653	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1954-1956)ccfs		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							54	58	57					10																	8007427		1888	4111	5999	SO:0001589	frameshift_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007427delC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1954delC	10.37:g.8007427delC	ENSP00000340271:p.Pro653fs						p.P653fs	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	2160	+			653			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Frame_Shift_Del	DEL	ENST00000344293.5	37	c.1954delC	CCDS41487.1																																																																																				0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		61	85						61	85	---	---	---	---	-	8007427	C	-	8007427	7	5	311	1	0	1	0	1	0	0	0	0	15522	507	18	0	1964	0	TAF3	10	8007427	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	388812	8007427	127527320	319	31393											
DHTKD1	55526	broad.mit.edu	37	chr10	12142226	12142226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctagactgggccaccgCggaagctcttgccttgggtt	13	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	ENST00000263035.4	+	9	1783	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	574					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1720-1722)gCg>gTg		dehydrogenase E1 and transketolase domain containing 1							143	157	153					10																	12142226		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12142226C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1721C>T	10.37:g.12142226C>T	ENSP00000263035:p.Ala574Val						p.A574V	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		9	1783	+		Renal(717;0.228)	574					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1721C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495661	0.85069	.	.	ENSG00000181192	ENST00000263035	D	0.93763	-3.28	5.39	5.39	0.77823	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97720	0.9252	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98595	1.0656	10	0.87932	D	0	-9.1872	19.1825	0.93629	0.0:1.0:0.0:0.0	.	574	Q96HY7	DHTK1_HUMAN	V	574	ENSP00000263035:A574V	ENSP00000263035:A574V	A	+	2	0	DHTKD1	12182232	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	7.000000	0.76290	2.531000	0.85337	0.484000	0.47621	GCG		0.423	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		47	173	0	0	0	1	0	47	173					T	12142226	C	T	12142226	3	4	311	1	0	0	0	0	1	0	0	0	4500	768	27	1	1755	1	DHTKD1	10	12142226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4134799	12142226	123392521	320	31394											
MKX	283078	broad.mit.edu	37	chr10	28023587	28023587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatttggggggtgccacGtagtcctcactggcccgtga	14	10	1	1	rs200413424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	ENST00000375790.5	-	5	1068	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_ENST00000419761.1_Silent_p.Y212Y			Q8IYA7	MKX_HUMAN	mohawk homeobox	212					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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 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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(634-636)taC>taT		mohawk homeobox							168	160	162					10																	28023587		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023587G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.636C>T	10.37:g.28023587G>A						MKX_ENST00000419761.1_Silent_p.Y212Y	p.Y212Y			Q8IYA7	MKX_HUMAN			5	1068	-			212					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.636C>T	CCDS7156.1																																																																																				0.488	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		88	59	0	0	0	1	0	88	59					A	28023587	G	A	28023587	2	1	311	1	0	0	0	0	0	0	0	1	9610	1140	40	1		1	MKX	10	28023587	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15881361	28023587	107511160	321	31395											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-													ctccccgagtgcaccaccatCcccccctggaaacactgcag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	ENST00000355867.4	-	31	6338	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|SVIL_ENST00000460007.1_5'Flank|SVIL_ENST00000375398.2_Frame_Shift_Del_p.G1862fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5584-5586)ggfs		supervillin							75	62	67					10																	29760116		2203	4300	6503	SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29760116delC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5586delG	10.37:g.29760116delC	ENSP00000348128:p.Gly1862fs					PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	p.G1862fs			O95425	SVIL_HUMAN			33	6035	-		Breast(68;0.103)	1862					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	c.5586delG	CCDS7164.1																																																																																				0.527	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			16	21						16	21	---	---	---	---	-	29760116	C	-	29760116	7	5	311	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1736529	29760116	105774631	322	31396											
SVIL	6840	broad.mit.edu	37	chr10	29822002	29822004	+	In_Frame_Del	DEL	CTT	CTT	-													ttcttctccttctccttcccCttcttcttcttctgcttttg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	ENST00000355867.4	-	8	2044_2046	c.1292_1294delAAG	c.(1291-1296)gaaggg>ggg	p.E431del	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_In_Frame_Del_p.E431del	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	431					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1291-1296)ggg>g		supervillin			,	3,4261		0,3,2129					,	-0.1	0			48	4,8250		0,4,4123	no	coding,intron	SVIL	NM_021738.2,NM_003174.3	,	0,7,6252	A1A1,A1R,RR		0.0485,0.0704,0.0559	,	,		7,12511				SO:0001651	inframe_deletion	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822002_29822004delCTT	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1292_1294delAAG	10.37:g.29822011_29822013delCTT	ENSP00000348128:p.Glu431del					SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_In_Frame_Del_p.EG435del	p.EG435del			O95425	SVIL_HUMAN			10	1741_1743	-		Breast(68;0.103)	435					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	In_Frame_Del	DEL	ENST00000355867.4	37	c.1292_1294delAAG	CCDS7164.1																																																																																				0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			12	48						12	48	---	---	---	---	-	29822004	CTT	-	29822002	7	5	311	1	0	1	0	1	0	0	0	0	15418	681	24	0	5474	0	SVIL	10	29822002	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	61886	29822002	105712745	323	31397											
ARHGAP22	58504	broad.mit.edu	37	chr10	49687793	49687793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggccggcaccttctcccGctccccggcaccacctgcaa	9	20	1	0	rs369383542		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	ENST00000249601.4	-	4	633	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	113	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16834	0.0		0.0	False		,,,				2504	0.0					ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(337-339)Cgg>Tgg		Rho GTPase activating protein 22		G	TRP/ARG	0,4396		0,0,2198	17	17	17		337	3.7	1	10		17	1,8595		0,1,4297	no	missense	ARHGAP22	NM_021226.2	101	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	113/699	49687793	1,12991	2198	4298	6496	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49687793G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.337C>T	10.37:g.49687793G>A	ENSP00000249601:p.Arg113Trp					ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W	p.R113W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			4	633	-			113			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.337C>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643064	0.47153	0.0	1.16E-4	ENSG00000128805	ENST00000249601;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T	0.27890	2.74;1.64;2.37;2.69;2.74	4.57	3.65	0.41850	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.164651	0.41001	D	0.000967	T	0.32436	0.0829	N	0.21373	0.66	0.39263	D	0.96425	B;D;B;D	0.57571	0.211;0.98;0.031;0.972	B;P;B;P	0.54100	0.056;0.502;0.032;0.742	T	0.27365	-1.0076	10	0.72032	D	0.01	.	13.0731	0.59072	0.0:0.0:0.8381:0.1619	.	119;113;113;23	B4DED8;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;RHG22_HUMAN;.	W	113;23;23;119;113	ENSP00000249601:R113W;ENSP00000363285:R23W;ENSP00000410054:R23W;ENSP00000416701:R119W;ENSP00000412461:R113W	ENSP00000249601:R113W	R	-	1	2	ARHGAP22	49357799	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.941000	0.56607	1.122000	0.41944	-0.181000	0.13052	CGG		0.672	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		9	20	0	0	0	1	0	9	20					A	49687793	G	A	49687793	3	1	311	1	0	0	0	0	1	0	0	0	872	1086	38	1	1787	1	ARHGAP22	10	49687793	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19865791	49687793	85846954	324	31398											
STOX1	219736	broad.mit.edu	37	chr10	70645798	70645798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagaatgacgacttacGtcaaatgctgcctggccaca	9	11	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	ENST00000298596.6	+	3	2329	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R639H|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	749						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2245-2247)cGt>cAt		storkhead box 1							100	93	95					10																	70645798		1939	4143	6082	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645798G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2246G>A	10.37:g.70645798G>A	ENSP00000298596:p.Arg749His					STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R639H	p.R749H	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2329	+			749					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2246G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	2.604	-0.292394	0.05568	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.63096	-0.02;-0.02;-0.02	5.76	0.701	0.18104	.	0.696787	0.15878	N	0.240189	T	0.32436	0.0829	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10200	-1.0640	10	0.30078	T	0.28	.	1.8046	0.03078	0.2616:0.212:0.407:0.1194	.	749	Q6ZVD7	STOX1_HUMAN	H	749;749;639	ENSP00000382121:R749H;ENSP00000298596:R749H;ENSP00000394509:R639H	ENSP00000298596:R749H	R	+	2	0	STOX1	70315804	0.001000	0.12720	0.022000	0.16811	0.369000	0.29798	0.342000	0.19926	-0.049000	0.13379	-0.844000	0.03045	CGT		0.438	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		28	78	0	0	0	1	0	28	78					A	70645798	G	A	70645798	3	1	311	1	0	0	0	0	1	0	0	0	15318	1145	40	1	2256	1	STOX1	10	70645798	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20958005	70645798	64888949	325	31399											
TSPAN15	23555	broad.mit.edu	37	chr10	71258152	71258152	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctgcatcaggaacacGgtagacactgctcctgtggg	12	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	ENST00000373290.2	+	5	692	c.570G>A	c.(568-570)acG>acA	p.T190T	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	190					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587																																						ENST00000373290.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						c.e5+1		tetraspanin 15							50	41	44					10																	71258152		2203	4300	6503	SO:0001630	splice_region_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71258152G>A	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"Tetraspanins"	23298	protein-coding gene	gene with protein product		613140	"transmembrane 4 superfamily member 15"	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.570+1G>A	10.37:g.71258152G>A						TSPAN15_ENST00000459981.1_3'UTR	p.T190_splice	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN			5	692	+			190					Q6UW79	Splice_Site	SNP	ENST00000373290.2	37	c.570_splice	CCDS7294.1																																																																																				0.587	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339	Silent	29	43	0	0	0	1	0	29	43					A	71258152	G	A	71258152	5	1	311	1	0	0	0	0	0	0	1	0	16636	1130	39	1	588	1	TSPAN15	10	71258152	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	612354	71258152	64276595	326	31400											
CDH23	64072	broad.mit.edu	37	chr10	73461953	73461953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgatgcgcaaaatcgtcGtctctgttactgactgtatg	10	9	1	2	rs181275139	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	ENST00000224721.6	+	22	2592	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	858	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		18705	0.002		0.0	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2587-2589)Gtc>Atc		cadherin-related 23		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4244		0,0,2122	115	133	127		2572,2572,2572	2.7	0.6	10		127	2,8400		0,2,4199	yes	missense,missense,missense	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	29,29,29	0,2,6321	AA,AG,GG		0.0238,0.0,0.0158	possibly-damaging,possibly-damaging,possibly-damaging	858/1382,858/1062,858/3355	73461953	2,12644	2122	4201	6323	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73461953G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2587G>A	10.37:g.73461953G>A	ENSP00000224721:p.Val863Ile					CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	p.V863I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			22	2592	+			858			Cadherin 8.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2587G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.067	0.567564	0.13560	0.0	2.38E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.56	2.65	0.31530	Cadherin (4);Cadherin-like (1);	0.250608	0.32935	N	0.005479	T	0.24699	0.0599	N	0.03903	-0.33	0.80722	D	1	B;B;B	0.21147	0.052;0.015;0.012	B;B;B	0.18871	0.023;0.004;0.016	T	0.03000	-1.1084	9	0.33141	T	0.24	.	6.2818	0.21011	0.2129:0.1335:0.6536:0.0	.	858;861;858	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	I	863;858;858;861;861;375	.	ENSP00000224721:V863I	V	+	1	0	CDH23	73131959	0.011000	0.17503	0.622000	0.29159	0.136000	0.21042	0.104000	0.15313	0.280000	0.22209	0.561000	0.74099	GTC		0.657	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		40	178	0	0	0	1	0	40	178					A	73461953	G	A	73461953	3	1	311	1	0	0	0	0	1	0	0	0	3108	1145	40	1	2885	1	CDH23	10	73461953	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2203801	73461953	62072794	327	31401											
ZMIZ1	57178	broad.mit.edu	37	chr10	80968196	80968196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgagcagagcctgatggGctgtttgacggtgagtctgc	15	9	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:80968196G>A	ENST00000334512.5	+	6	736	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	55					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCTGATGGGCTGTTTGACG	0.607																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(163-165)gGc>gAc		zinc finger, MIZ-type containing 1							49	41	43					10																	80968196		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:80968196G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.164G>A	10.37:g.80968196G>A	ENSP00000334474:p.Gly55Asp						p.G55D	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		6	736	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		55					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.164G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709183	0.89018	.	.	ENSG00000108175	ENST00000334512;ENST00000394592	T	0.30981	1.51	5.05	5.05	0.67936	.	.	.	.	.	T	0.54351	0.1853	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.964;1.0	P;D	0.97110	0.461;1.0	T	0.57957	-0.7721	9	0.87932	D	0	-15.6541	17.1779	0.86846	0.0:0.0:1.0:0.0	.	55;55	Q9ULJ6;A0JLS3	ZMIZ1_HUMAN;.	D	55	ENSP00000334474:G55D	ENSP00000334474:G55D	G	+	2	0	ZMIZ1	80638202	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.215000	0.95146	2.342000	0.79632	0.462000	0.41574	GGC		0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		4	71	0	0	0	1	0	4	71					A	80968196	G	A	80968196	3	1	311	1	0	0	0	0	1	0	0	0	17693	1203	42	2	170	2	ZMIZ1	10	80968196	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7506243	80968196	54566551	328	31402											
MYOF	26509	broad.mit.edu	37	chr10	95095762	95095762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctgagaagtctgtcagGccctcaaattctgctacatt	8	10	5	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	ENST00000359263.4	-	41	4478	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_ENST00000371502.4_Silent_p.G1512G|MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371501.4_Silent_p.G1493G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1493					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4477-4479)ggC>ggT		myoferlin							173	157	162					10																	95095762		1881	4093	5974	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95095762G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4479C>T	10.37:g.95095762G>A						MYOF_ENST00000359263.4_Silent_p.G1493G|MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371502.4_Silent_p.G1512G	p.G1493G			Q9NZM1	MYOF_HUMAN			41	4601	-			1493					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.4479C>T	CCDS41551.1																																																																																				0.383	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		7	148	0	0	0	1	0	7	148					A	95095762	G	A	95095762	2	1	311	1	0	0	0	0	0	0	0	1	10089	1190	42	2		2	MYOF	10	95095762	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14127566	95095762	40438985	329	31403											
CYP2C18	1562	broad.mit.edu	37	chr10	96480238	96480238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctggaacagagacaaCgagcaccactctgagatatg	13	9	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	ENST00000285979.6	+	6	1104	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	302					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)	ACAGAGACAACGAGCACCACT	0.423																																						ENST00000285979.6																			0				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						c.(904-906)aCg>aTg		cytochrome P450, family 2, subfamily C, polypeptide 18							141	130	134					10																	96480238		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96480238C>T	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.905C>T	10.37:g.96480238C>T	ENSP00000285979:p.Thr302Met					CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M|CYP2C19_ENST00000464755.1_3'UTR	p.T302M	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	6	1104	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.905C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	12.71	2.018311	0.35606	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.78364	-1.17;-1.17	4.2	3.3	0.37823	.	0.131705	0.50627	U	0.000101	D	0.87811	0.6271	M	0.93507	3.425	0.80722	D	1	D;D	0.76494	0.987;0.999	P;D	0.63793	0.672;0.918	D	0.86897	0.2052	10	0.62326	D	0.03	.	6.3186	0.21204	0.0:0.7787:0.0:0.2213	.	243;302	Q4VAT5;P33260	.;CP2CI_HUMAN	M	243;302	ENSP00000341293:T243M;ENSP00000285979:T302M	ENSP00000285979:T302M	T	+	2	0	CYP2C18	96470228	0.857000	0.29778	0.278000	0.24718	0.197000	0.23852	2.432000	0.44784	0.957000	0.37930	0.306000	0.20318	ACG		0.423	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		19	78	0	0	0	1	0	19	78					T	96480238	C	T	96480238	3	4	311	1	0	0	0	0	1	0	0	0	4165	536	19	1	927	1	CYP2C18	10	96480238	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1384476	96480238	39054509	330	31404											
DNTT	1791	broad.mit.edu	37	chr10	98064310	98064310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagagaccccggcagaCgggtgccttgatggcctcct	14	12	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	ENST00000371174.2	+	1	158	c.56C>T	c.(55-57)aCg>aTg	p.T19M	DNTT_ENST00000419175.1_Missense_Mutation_p.T19M|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	19					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.T19M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567																																						ENST00000419175.1																			1	Substitution - Missense(1)	p.T19M(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(55-57)aCg>aTg		DNA nucleotidylexotransferase							50	56	54					10																	98064310		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064310C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.56C>T	10.37:g.98064310C>T	ENSP00000360216:p.Thr19Met					RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.T19M	p.T19M	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	226	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	19					Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.56C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454495	0.26161	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11712	2.75;2.75	5.76	-0.974	0.10293	.	0.613982	0.19384	N	0.115597	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.12837	0.008;0.003	T	0.34254	-0.9836	10	0.38643	T	0.18	-2.9864	10.4253	0.44373	0.0:0.2216:0.0:0.7784	.	19;19	P04053-2;P04053	.;TDT_HUMAN	M	19	ENSP00000401169:T19M;ENSP00000360216:T19M	ENSP00000360216:T19M	T	+	2	0	DNTT	98054300	0.012000	0.17670	0.000000	0.03702	0.082000	0.17680	0.057000	0.14279	-0.444000	0.07170	0.655000	0.94253	ACG		0.567	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		21	84	0	0	0	1	0	21	84					T	98064310	C	T	98064310	3	4	311	1	0	0	0	0	1	0	0	0	4680	536	19	1	58	1	DNTT	10	98064310	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1584072	98064310	37470437	331	31405											
CRTAC1	55118	broad.mit.edu	37	chr10	99696063	99696063	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgcgctcatcgaccgcGatgttcaccagccgcttctg	11	15	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	ENST00000370597.3	-	3	640	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_ENST00000298819.4_Silent_p.I95I|CRTAC1_ENST00000370591.2_Silent_p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	95						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(283-285)atC>atT		cartilage acidic protein 1							58	50	53					10																	99696063		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696063G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.285C>T	10.37:g.99696063G>A						CRTAC1_ENST00000370591.2_Silent_p.I95I|CRTAC1_ENST00000298819.4_Silent_p.I95I	p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	640	-		Colorectal(252;0.24)	95					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.285C>T	CCDS31266.1																																																																																				0.667	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		31	40	0	0	0	1	0	31	40					A	99696063	G	A	99696063	2	1	311	1	0	0	0	0	0	0	0	1	3896	1048	37	1		1	CRTAC1	10	99696063	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1631753	99696063	35838684	332	31406											
GBF1	8729	broad.mit.edu	37	chr10	104141973	104141973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccactgcaggtgggCgtgccacctatgactctgcc	11	17	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	ENST00000369983.3	+	40	5720	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1820	Pro-rich.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5458-5460)ggC>ggT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							91	82	85					10																	104141973		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104141973C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5460C>T	10.37:g.104141973C>T							p.G1820G	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	40	5720	+		Colorectal(252;0.0236)	1820			Pro-rich.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.5460C>T	CCDS7533.1																																																																																				0.682	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			50	158	0	0	0	1	0	50	158					T	104141973	C	T	104141973	2	4	311	1	0	0	0	0	0	0	0	1	6271	755	27	1		1	GBF1	10	104141973	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4445910	104141973	31392774	333	31407											
PDCD11	22984	broad.mit.edu	37	chr10	105184818	105184818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcctccttggtagagacGggccacctggcagctttctc	11	13	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	ENST00000369797.3	+	20	2935	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	947					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2839-2841)acG>acA		programmed cell death 11							111	99	103					10																	105184818		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105184818G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2841G>A	10.37:g.105184818G>A						PDCD11_ENST00000490787.1_3'UTR	p.T947T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	2935	+		Colorectal(252;0.0747)|Breast(234;0.128)	947					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.2841G>A	CCDS31276.1																																																																																				0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			25	102	0	0	0	1	0	25	102					A	105184818	G	A	105184818	2	1	311	1	0	0	0	0	0	0	0	1	11617	1103	39	1		1	PDCD11	10	105184818	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1042845	105184818	30349929	334	31408											
CALHM2	51063	broad.mit.edu	37	chr10	105209166	105209166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcatacctgagcctgCggctgacctcctcccggaag	12	15	1	2	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	ENST00000260743.5	-	3	1056	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000393235.1_Missense_Mutation_p.R178H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	178					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18654	0.0		0.0	False		,,,				2504	0.0					ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(532-534)cGc>cAc		calcium homeostasis modulator 2		C	HIS/ARG	1,4393		0,1,2196	65	67	67		533	5.6	1	10	dbSNP_134	67	2,8586		0,2,4292	yes	missense	CALHM2	NM_015916.4	29	0,3,6488	TT,TC,CC		0.0233,0.0228,0.0231	probably-damaging	178/324	105209166	3,12979	2197	4294	6491	SO:0001583	missense	51063					integral to membrane		g.chr10:105209166C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.533G>A	10.37:g.105209166C>T	ENSP00000260743:p.Arg178His					CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|CALHM2_ENST00000260743.5_Missense_Mutation_p.R178H	p.R178H			Q9HA72	CAHM2_HUMAN			3	1730	-			178					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.533G>A	CCDS7549.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	28.9	4.959377	0.92726	2.28E-4	2.33E-4	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.19394	2.15;2.15;2.15	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.76002	2.32	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.962	T	0.42649	-0.9439	10	0.46703	T	0.11	-36.4433	19.5055	0.95113	0.0:1.0:0.0:0.0	.	178;178;178	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	H	178	ENSP00000358803:R178H;ENSP00000260743:R178H;ENSP00000376927:R178H	ENSP00000260743:R178H	R	-	2	0	CALHM2	105199156	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.789000	0.75110	2.613000	0.88420	0.561000	0.74099	CGC		0.592	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		33	123	0	0	0	1	0	33	123					T	105209166	C	T	105209166	3	4	311	1	0	0	0	0	1	0	0	0	2583	768	27	1	446	1	CALHM2	10	105209166	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24348	105209166	30325581	335	31409											
SLK	9748	broad.mit.edu	37	chr10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-													gtgttgggaggaaaaatgtcCttcttcaatttccgtaagat							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_ENST00000335753.4_In_Frame_Del_p.F4del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	4					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)		GAAAAATGTCCTTCTTCAATTTC	0.483																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(4-9)tcc>tc		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727509_105727511delCTT		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.6_8delCTT	10.37:g.105727512_105727514delCTT	ENSP00000358770:p.Phe4del					SLK_ENST00000335753.4_In_Frame_Del_p.SF2del	p.SF2del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	551_553	+		Colorectal(252;0.178)	2					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.6_8delCTT	CCDS7553.1																																																																																				0.483	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		41	157						41	157	---	---	---	---	-	105727511	CTT	-	105727509	7	5	311	1	0	1	0	1	0	0	0	0	14748	668	24	0	8	0	SLK	10	105727509	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	518343	105727509	29807238	336	31410											
C10orf78	119392	broad.mit.edu	37	chr10	105883598	105883598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccttttcagagaaaccaGcatcttccacagaggaaaac	7	11	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105883598G>A	ENST00000369727.3	+	3	281	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SFR1_ENST00000369729.3_Missense_Mutation_p.A75T|SFR1_ENST00000336358.5_Missense_Mutation_p.A150T	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	88					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											AGAGAAACCAGCATCTTCCAC	0.299																																						ENST00000336358.5																			0											c.(448-450)Gca>Aca		SWI5-dependent recombination repair 1							61	68	66					10																	105883598		2202	4298	6500	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883598G>A	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 78", "MEI5 recombination repair protein homolog (S. cerevisiae)"	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.262G>A	10.37:g.105883598G>A	ENSP00000358742:p.Ala88Thr					SFR1_ENST00000369729.3_Missense_Mutation_p.A75T|SFR1_ENST00000369727.3_Missense_Mutation_p.A88T	p.A150T			Q86XK3	SFR1_HUMAN			2	967	+			88					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.448G>A	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979113	0.18812	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.46819	0.94;0.92;0.86	5.62	-2.63	0.06133	.	1.740710	0.02434	N	0.083877	T	0.28764	0.0713	N	0.25647	0.755	0.09310	N	1	B;B	0.22146	0.053;0.065	B;B	0.24394	0.053;0.042	T	0.05599	-1.0875	10	0.12430	T	0.62	-0.4022	1.6603	0.02790	0.1646:0.2814:0.2923:0.2617	.	150;88	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	T	75;88;150	ENSP00000358744:A75T;ENSP00000358742:A88T;ENSP00000338089:A150T	ENSP00000338089:A150T	A	+	1	0	SFR1	105873588	0.000000	0.05858	0.003000	0.11579	0.983000	0.72400	0.079000	0.14782	-0.110000	0.12022	-0.176000	0.13171	GCA		0.299	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		8	79	0	0	0	1	0	8	79					A	105883598	G	A	105883598	3	1	311	1	0	0	0	0	1	0	0	0	1617	971	34	2	272	2	C10orf78	10	105883598	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	156089	105883598	29651149	337	31411											
EIF3A	340719	broad.mit.edu	37	chr10	120796752	120796752	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcatccctatccctatcGtcccggcgacttgagtctct	8	16	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	ENST00000425699.1	+	0	4627				EIF3A_ENST00000369144.3_Silent_p.D1266D|EIF3A_ENST00000541549.1_Silent_p.D1232D	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TATCCCTATCGTCCCGGCGAC	0.547																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3796-3798)gaC>gaT		eukaryotic translation initiation factor 3, subunit A							144	126	132					10																	120796752		2203	4300	6503	SO:0001628	intergenic_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120796752G>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120796752G>A						EIF3A_ENST00000541549.1_Silent_p.D1232D|EIF3A_ENST00000478852.1_Intron	p.D1266D	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	21	3925	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1266			Asp-rich.			Silent	SNP	ENST00000425699.1	37	c.3798C>T	CCDS7607.1																																																																																				0.547	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			36	136	0	0	0	1	0	36	136					A	120796752	G	A	120796752	1	1	311	0	1	0	0	0	0	0	0	0	5012	1136	40	1		1	EIF3A	10	120796752	IGR	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14913154	120796752	14737995	338	31412											
GPR26	2849	broad.mit.edu	37	chr10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccaagatgcgcctccgcGacgcggcgctcatggtggcc	16	15	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(364-366)Gac>Aac		G protein-coupled receptor 26							10	11	10					10																	125426287		2181	4269	6450	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426287G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.364G>A	10.37:g.125426287G>A	ENSP00000284674:p.Asp122Asn						p.D122N	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	417	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	122					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.364G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724724	0.68959	.	.	ENSG00000154478	ENST00000284674	T	0.36157	1.27	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.48174	1.505	0.80722	D	1	P	0.45011	0.848	B	0.30105	0.111	T	0.22695	-1.0209	10	0.38643	T	0.18	-25.8253	16.5501	0.84470	0.0:0.0:1.0:0.0	.	122	Q8NDV2	GPR26_HUMAN	N	122	ENSP00000284674:D122N	ENSP00000284674:D122N	D	+	1	0	GPR26	125416277	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.508000	0.98000	2.125000	0.65367	0.655000	0.94253	GAC		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			8	16	0	0	0	1	0	8	16					A	125426287	G	A	125426287	3	1	311	1	0	0	0	0	1	0	0	0	6684	1058	37	1	366	1	GPR26	10	125426287	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4629535	125426287	10108460	339	31413											
GPR26	2849	broad.mit.edu	37	chr10	125426409	125426409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgctgtgcagccggcgGccagacgagcgcctgcgctt	15	15	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426409G>A	ENST00000284674.1	+	1	539	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	162					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCAGCCGGCGGCCAGACGAGC	0.682																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(484-486)cgG>cgA		G protein-coupled receptor 26							18	17	17					10																	125426409		2202	4296	6498	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426409G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.486G>A	10.37:g.125426409G>A							p.R162R	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	539	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	162					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.486G>A	CCDS7636.1																																																																																				0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			19	20	0	0	0	1	0	19	20					A	125426409	G	A	125426409	2	1	311	1	0	0	0	0	0	0	0	1	6684	1190	42	2		2	GPR26	10	125426409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122	125426409	10108338	340	31414											
CHST15	51363	broad.mit.edu	37	chr10	125804256	125804256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagtgcttcccgtgcgcGtgcgccaggtggccccagaa	15	14	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	ENST00000346248.5	-	3	1368	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.H242H|CHST15_ENST00000421115.1_Silent_p.H242H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	242					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(724-726)caC>caT		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							89	79	82					10																	125804256		2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804256G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.726C>T	10.37:g.125804256G>A						CHST15_ENST00000421115.1_Silent_p.H242H|CHST15_ENST00000435907.1_Silent_p.H242H	p.H242H	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1368	-			242					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.726C>T	CCDS7638.1																																																																																				0.662	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		15	25	0	0	0	1	0	15	25					A	125804256	G	A	125804256	2	1	311	1	0	0	0	0	0	0	0	1	3403	1136	40	1		1	CHST15	10	125804256	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	377847	125804256	9730491	341	31415											
PWWP2B	170394	broad.mit.edu	37	chr10	134218375	134218375	+	Frame_Shift_Del	DEL	C	C	-													ccctccctacttcgaaggcgCccccttccctcacccgctgt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	ENST00000305233.5	+	2	430	c.371delC	c.(370-372)gccfs	p.A124fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(370-372)gcfs		PWWP domain containing 2B							11	10	10					10																	134218375		1812	3513	5325	SO:0001589	frameshift_variant	170394							g.chr10:134218375delC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.371delC	10.37:g.134218375delC	ENSP00000306324:p.Ala124fs					PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	430	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	124			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Frame_Shift_Del	DEL	ENST00000305233.5	37	c.371delC	CCDS7667.2																																																																																				0.751	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		11	29						11	29	---	---	---	---	-	134218375	C	-	134218375	7	5	311	1	0	1	0	1	0	0	0	0	12846	739	26	0	377	0	PWWP2B	10	134218375	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8414119	134218375	1316372	342	31416											
TUBGCP2	10844	broad.mit.edu	37	chr10	135101799	135101799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccctggtccatgaggaagTagcgcttgatggacctgcgc	14	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	ENST00000252936.3	-	10	1595	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	519					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)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1555-1557)tAc>tGc		tubulin, gamma complex associated protein 2							42	38	40					10																	135101799		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135101799T>C	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1556A>G	10.37:g.135101799T>C	ENSP00000252936:p.Tyr519Cys					TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C	p.Y519C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	11	1912	-		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)	519					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1556A>G	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	t	23.7	4.441835	0.83993	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	5.29	0.74685	.	0.182600	0.50627	D	0.000119	T	0.43233	0.1238	M	0.87456	2.885	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.997	T	0.50423	-0.8830	10	0.87932	D	0	-19.5395	14.4399	0.67309	0.0:0.0:0.0:1.0	.	547;547;519	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	C	519;389;519;112;547	ENSP00000252936:Y519C;ENSP00000395666:Y389C;ENSP00000357551:Y519C;ENSP00000357550:Y112C;ENSP00000446093:Y547C	ENSP00000252936:Y519C	Y	-	2	0	TUBGCP2	134951789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.701000	0.84566	2.148000	0.66965	0.450000	0.29827	TAC		0.682	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	53	0	0	0	1	0	15	53					C	135101799	T	C	135101799	3	2	311	1	0	0	0	0	1	0	0	0	16763	1638	57	3	1184	3	TUBGCP2	10	135101799	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	883424	135101799	432948	343	31417											
TUBGCP2	10844	broad.mit.edu	37	chr10	135103416	135103418	+	In_Frame_Del	DEL	GTT	GTT	-													cgctggtcccagtacttgtcGttgtaatcctcctggatcct					rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	ENST00000252936.3	-	8	1309_1311	c.1270_1272delAAC	c.(1270-1272)aacdel	p.N424del	TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del|TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del|TUBGCP2_ENST00000368563.2_In_Frame_Del_p.N424del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	424					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)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1270-1272)del		tubulin, gamma complex associated protein 2																																				SO:0001651	inframe_deletion	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135103416_135103418delGTT	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1270_1272delAAC	10.37:g.135103416_135103418delGTT	ENSP00000252936:p.Asn424del					TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del|TUBGCP2_ENST00000252936.3_In_Frame_Del_p.N424del|TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del	p.N424del	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	9	1626_1628	-		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)	424					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	In_Frame_Del	DEL	ENST00000252936.3	37	c.1270_1272delAAC	CCDS7676.1																																																																																				0.581	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			15	74						15	74	---	---	---	---	-	135103418	GTT	-	135103416	7	5	311	1	0	1	0	1	0	0	0	0	16763	1136	40	0	1476	0	TUBGCP2	10	135103416	In_Frame_Del	DEL	GTT	TCGA-HT-8564-01A-11D-2395-08	1617	135103416	431331	344	31418											
IFITM1	8519	broad.mit.edu	37	chr11	314210	314210	+	Frame_Shift_Del	DEL	C	C	-													aggtggctgtgctggggccaCcccccagcaccatccttcca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	ENST00000408968.3	+	1	358	c.40delC	c.(40-42)cccfs	p.P15fs	IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	15					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(40-42)ccfs		interferon induced transmembrane protein 1							81	89	86					11																	314210		2018	4164	6182	SO:0001589	frameshift_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314210delC	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.40delC	11.37:g.314210delC	ENSP00000386187:p.Pro15fs					IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs	p.P15fs	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	358	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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)	15					Q15322|Q53XZ0	Frame_Shift_Del	DEL	ENST00000408968.3	37	c.40delC	CCDS41584.1																																																																																				0.562	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		22	136						22	136	---	---	---	---	-	314210	C	-	314210	7	5	311	1	0	1	0	1	0	0	0	0	7526	507	18	0	42	0	IFITM1	11	314210	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		314210	134692306	345	31419											
DEAF1	10522	broad.mit.edu	37	chr11	654033	654033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctcatagcctcccggcCgcagttaacgcaggactgct	10	16	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	ENST00000382409.3	-	11	2006	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	508					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1522-1524)Ggc>Agc		DEAF1 transcription factor							126	96	106					11																	654033		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:654033C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1522G>A	11.37:g.654033C>T	ENSP00000371846:p.Gly508Ser					DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	p.G508S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	11	2006	-		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)	508					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1522G>A	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449428	0.84101	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.70282	-0.47	3.49	3.49	0.39957	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	D	0.84522	0.0628	10	0.66056	D	0.02	-34.81	14.2996	0.66336	0.0:1.0:0.0:0.0	.	508	O75398	DEAF1_HUMAN	S	508;433;494;431	ENSP00000371846:G508S	ENSP00000341902:G433S	G	-	1	0	DEAF1	644033	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.167000	0.77562	1.971000	0.57363	0.455000	0.32223	GGC		0.622	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		12	53	0	0	0	1	0	12	53					T	654033	C	T	654033	3	4	311	1	0	0	0	0	1	0	0	0	4380	652	23	1	183	1	DEAF1	11	654033	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	339823	654033	134352483	346	31420											
LRDD	79751	broad.mit.edu	37	chr11	800359	800359	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacagcctgagcctcccGgtccagagtggtggtcacgt	13	15	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:800359G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Missense_Mutation_p.R712W|PIDD_ENST00000411829.2_Intron	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)		TGAGCCTCCCGGTCCAGAGTG	0.632																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.(2134-2136)Cgg>Tgg		p53-induced death domain protein							54	53	53					11																	800359		2202	4299	6501	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800359G>A	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.800359G>A	Exception_encountered					PIDD_ENST00000411829.2_Intron	p.R712W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			13	2275	-			712					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000531214.1	37	c.2134C>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243288	0.58995	.	.	ENSG00000177595	ENST00000347755	T	0.43294	0.95	4.14	3.14	0.36123	.	0.238566	0.34110	N	0.004243	T	0.46249	0.1383	L	0.27053	0.805	0.33760	D	0.621677	D;D	0.89917	1.0;1.0	D;D	0.72338	0.952;0.977	T	0.58020	-0.7710	10	0.66056	D	0.02	.	9.0707	0.36491	0.0:0.0:0.5968:0.4032	.	712;555	Q9HB75;Q9HB75-3	PIDD_HUMAN;.	W	712	ENSP00000337797:R712W	ENSP00000337797:R712W	R	-	1	2	PIDD	790359	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	2.155000	0.42301	2.135000	0.66039	0.462000	0.41574	CGG		0.632	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			36	81	0	0	0	1	0	36	81					A	800359	G	A	800359	1	1	311	0	1	0	0	0	0	0	0	0	8936	1115	39	1		1	LRDD	11	800359	5'Flank	SNP	G	TCGA-HT-8564-01A-11D-2395-08	146326	800359	134206157	347	31421											
MUC2	4583	broad.mit.edu	37	chr11	1080294	1080294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaggcaccgtatatgaCgacatcggggacagtggctg	14	11	0	1	rs531227250	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	ENST00000441003.2	+	8	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	MUC2_ENST00000359061.5_Silent_p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	338	TIL.				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)	CCGTATATGACGACATCGGGG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		17242	0.0		0.0	False		,,,				2504	0.0041					ENST00000441003.2																			0				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						c.(1012-1014)gaC>gaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						25	29	28					11																	1080294		2134	4235	6369	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080294C>T	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.1014C>T	11.37:g.1080294C>T						MUC2_ENST00000359061.5_Silent_p.D338D	p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1041	+		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)	338			TIL.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1014C>T																																																																																					0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	18	0	0	0	1	0	5	18					T	1080294	C	T	1080294	2	4	311	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1080294	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	279935	1080294	133926222	348	31422											
DUSP8	1850	broad.mit.edu	37	chr11	1578531	1578531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagtgcgctggtcgcCgggggcgtggggggcgcggg	24	10	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	ENST00000397374.3	-	7	1222	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	DUSP8_ENST00000331588.4_Silent_p.P365P|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1093-1095)ccG>ccA		dual specificity phosphatase 8							3	4	4					11																	1578531		1438	3194	4632	SO:0001819	synonymous_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1578531C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1095G>A	11.37:g.1578531C>T						DUSP8_ENST00000331588.4_Silent_p.P365P	p.P365P	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1222	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	365			Pro-rich.|Tyrosine-protein phosphatase.		Q86SS8	Silent	SNP	ENST00000397374.3	37	c.1095G>A	CCDS7724.1																																																																																				0.731	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		6	4	0	0	0	1	0	6	4					T	1578531	C	T	1578531	2	4	311	1	0	0	0	0	0	0	0	1	4831	639	23	1		1	DUSP8	11	1578531	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	498237	1578531	133427985	349	31423											
TRPM5	29850	broad.mit.edu	37	chr11	2428525	2428525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcaccacctggaacGtgtagctgcaggggcacagc	13	14	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	ENST00000155858.6	-	20	2950	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|TRPM5_ENST00000452833.1_Missense_Mutation_p.T983M	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)		CACCTGGAACGTGTAGCTGCA	0.642																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2947-2949)aCg>aTg		transient receptor potential cation channel, subfamily M, member 5							64	46	52					11																	2428525		2201	4298	6499	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2428525G>A	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.2942C>T	11.37:g.2428525G>A	ENSP00000155858:p.Thr981Met					TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000155858.6_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|AC124057.5_ENST00000433035.1_RNA	p.T983M			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	20	2956	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	981						Missense_Mutation	SNP	ENST00000155858.6	37	c.2948C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.910022	0.72983	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	3.26	3.26	0.37387	.	0.131953	0.49916	D	0.000126	T	0.80618	0.4657	M	0.86953	2.85	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	0.85215	0.1023	10	0.87932	D	0	-16.4368	14.3637	0.66789	0.0:0.0:1.0:0.0	.	981;983;981	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	M	975;981;983;981;981	ENSP00000434383:T975M;ENSP00000155858:T981M;ENSP00000387965:T983M;ENSP00000434121:T981M;ENSP00000436809:T981M	ENSP00000155858:T981M	T	-	2	0	TRPM5	2385101	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	6.177000	0.71961	1.780000	0.52325	0.511000	0.50034	ACG		0.642	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		18	15	0	0	0	1	0	18	15					A	2428525	G	A	2428525	3	1	311	1	0	0	0	0	1	0	0	0	16586	1145	40	1	575	1	TRPM5	11	2428525	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	849994	2428525	132577991	350	31424											
OR51G1	79324	broad.mit.edu	37	chr11	4944910	4944910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtgcgaaggatgagggcGtatgagagaaagatgagcag	18	4	0	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	ENST00000321961.2	-	1	727	c.660C>T	c.(658-660)taC>taT	p.Y220Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547																																						ENST00000321961.2																			1	Substitution - Nonsense(1)	p.Y220*(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(658-660)taC>taT		olfactory receptor, family 51, subfamily G, member 1							115	95	102					11																	4944910		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944910G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.660C>T	11.37:g.4944910G>A						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Y220Y	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	727	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	220					B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.660C>T	CCDS31366.1																																																																																				0.547	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		26	89	0	0	0	1	0	26	89					A	4944910	G	A	4944910	2	1	311	1	0	0	0	0	0	0	0	1	11098	1140	40	1		1	OR51G1	11	4944910	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2516385	4944910	130061606	351	31425											
OR51B4	79339	broad.mit.edu	37	chr11	5322671	5322671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgtgtgcaagagggcaCgggaaccacaatatgggtag	14	6	0	1	rs115916434	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	ENST00000380224.1	-	1	555	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	169					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)		CAAGAGGGCACGGGAACCACA	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		23251	0.002		0.0	False		,,,				2504	0.0					ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(505-507)cGt>cAt		olfactory receptor, family 51, subfamily B, member 4		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	118	106	110		506	3.7	1	11	dbSNP_132	110	0,8594		0,0,4297	yes	missense	OR51B4	NM_033179.2	29	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	benign	169/311	5322671	2,12994	2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322671C>T	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.506G>A	11.37:g.5322671C>T	ENSP00000369573:p.Arg169His					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.R169H	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	555	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	169					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.506G>A	CCDS7757.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	0.004	-2.345327	0.00222	4.54E-4	0.0	ENSG00000183251	ENST00000380224	T	0.37235	1.21	4.84	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.108239	0.41294	N	0.000905	T	0.07773	0.0195	N	0.00405	-1.535	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35773	-0.9775	10	0.05620	T	0.96	.	5.819	0.18516	0.0:0.093:0.1682:0.7388	.	169	Q9Y5P0	O51B4_HUMAN	H	169	ENSP00000369573:R169H	ENSP00000369573:R169H	R	-	2	0	OR51B4	5279247	0.000000	0.05858	0.964000	0.40570	0.003000	0.03518	0.158000	0.16422	0.896000	0.36366	-0.302000	0.09304	CGT		0.423	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		52	70	0	0	0	1	0	52	70					T	5322671	C	T	5322671	3	4	311	1	0	0	0	0	1	0	0	0	11090	536	19	1	429	1	OR51B4	11	5322671	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	377761	5322671	129683845	352	31426											
CNGA4	1262	broad.mit.edu	37	chr11	6261503	6261503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaccgcacagagacccGcacagcttacccaaatgcct	7	17	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:6261503G>A	ENST00000379936.2	+	4	594	c.479G>A	c.(478-480)cGc>cAc	p.R160H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	160					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGAGACCCGCACAGCTTAC	0.587																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(478-480)cGc>cAc		cyclic nucleotide gated channel alpha 4							73	76	75					11																	6261503		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261503G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.479G>A	11.37:g.6261503G>A	ENSP00000369268:p.Arg160His					CNGA4_ENST00000533426.1_Intron	p.R160H	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	594	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	160						Missense_Mutation	SNP	ENST00000379936.2	37	c.479G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021284	0.93462	.	.	ENSG00000132259	ENST00000379936	D	0.98862	-5.19	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	M	0.85542	2.76	0.58432	D	0.999993	D;D	0.63046	0.992;0.966	P;P	0.50049	0.581;0.629	D	0.99799	1.1035	10	0.16420	T	0.52	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	160;120	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	H	160	ENSP00000369268:R160H	ENSP00000369268:R160H	R	+	2	0	CNGA4	6218079	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	7.548000	0.82154	2.607000	0.88179	0.655000	0.94253	CGC		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		6	178	0	0	0	1	0	6	178					A	6261503	G	A	6261503	3	1	311	1	0	0	0	0	1	0	0	0	3599	1087	38	1	493	1	CNGA4	11	6261503	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	938832	6261503	128745013	353	31427											
ST5	6764	broad.mit.edu	37	chr11	8752647	8752647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccttgaggagcacccGggagctggagtggctggggt	19	10	0	1	rs369886137		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	ENST00000534127.1	-	6	575	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R64W|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	64	Pro-rich.				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)		AGGAGCACCCGGGAGCTGGAG	0.612																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(190-192)Cgg>Tgg		suppression of tumorigenicity 5		G	,TRP/ARG,TRP/ARG	0,4402		0,0,2201	30	34	33		,190,190	5	1	11		33	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense,missense	ST5	NM_139157.2,NM_213618.1,NM_005418.3	,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign	,64/1138,64/1138	8752647	1,12993	2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752647G>A	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.190C>T	11.37:g.8752647G>A	ENSP00000433528:p.Arg64Trp					ST5_ENST00000357665.1_Missense_Mutation_p.R64W|ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	p.R64W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	575	-			64			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.190C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326238	0.41197	0.0	1.16E-4	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347;ENST00000533016;ENST00000527516;ENST00000527473;ENST00000530938;ENST00000533471	T;T;T	0.07800	3.16;3.16;3.16	5.91	4.98	0.66077	.	0.670897	0.14891	N	0.292389	T	0.10723	0.0262	L	0.43152	1.355	0.33414	D	0.578945	B	0.02656	0.0	B	0.04013	0.001	T	0.03534	-1.1027	10	0.72032	D	0.01	-8.3991	14.9022	0.70687	0.0:0.0:0.6385:0.3615	.	64	P78524	ST5_HUMAN	W	64;64;64;64;94;64;64;64;81;64;64;64;84;64;64;64;64	ENSP00000433528:R64W;ENSP00000319678:R64W;ENSP00000350294:R64W	ENSP00000319678:R64W	R	-	1	2	ST5	8709223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.566000	0.36396	1.441000	0.47550	0.655000	0.94253	CGG		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		6	61	0	0	0	1	0	6	61					A	8752647	G	A	8752647	3	1	311	1	0	0	0	0	1	0	0	0	15219	1115	39	1	3295	1	ST5	11	8752647	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2491144	8752647	126253869	354	31428											
ZNF143	7702	broad.mit.edu	37	chr11	9522711	9522711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatatcagaaaagtgcaCgttaggacacacacaggaga	9	8	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	ENST00000396602.2	+	11	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_ENST00000396604.1_Silent_p.H346H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000396597.3_Silent_p.H316H	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	347					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1039-1041)caC>caT		zinc finger protein 143							140	132	135					11																	9522711		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9522711C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1041C>T	11.37:g.9522711C>T						ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000396604.1_Silent_p.H346H|ZNF143_ENST00000396597.3_Silent_p.H316H	p.H347H	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	11	1160	+			347					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.1041C>T	CCDS7799.2																																																																																				0.433	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		55	115	0	0	0	1	0	55	115					T	9522711	C	T	9522711	2	4	311	1	0	0	0	0	0	0	0	1	17729	535	19	1		1	ZNF143	11	9522711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	770064	9522711	125483805	355	31429											
INSC	387755	broad.mit.edu	37	chr11	15197574	15197574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctgacctgccatgcccGctccatggtcagcgagtaca	11	15	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	ENST00000379554.3	+	3	531	c.485G>A	c.(484-486)cGc>cAc	p.R162H	INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H|INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	162					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(484-486)cGc>cAc		inscuteable homolog (Drosophila)							17	18	18					11																	15197574		2056	4210	6266	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197574G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.485G>A	11.37:g.15197574G>A	ENSP00000368872:p.Arg162His					INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H|INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H	p.R162H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			3	531	+			162					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.485G>A	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310243	0.60414	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.38722	1.12;1.16;1.14;1.12;1.16;1.14	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	L	0.56769	1.78	0.52099	D	0.999944	P;P;P;P	0.47604	0.898;0.552;0.76;0.76	B;B;B;B	0.38327	0.271;0.104;0.147;0.147	T	0.42899	-0.9424	10	0.54805	T	0.06	-23.1518	13.7979	0.63182	0.0762:0.0:0.9238:0.0	.	115;115;115;162	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	162;115;115;115;115;115;115	ENSP00000368872:R162H;ENSP00000368874:R115H;ENSP00000389161:R115H;ENSP00000435022:R115H;ENSP00000436194:R115H;ENSP00000436113:R115H	ENSP00000368872:R162H	R	+	2	0	INSC	15154150	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.424000	0.59868	2.360000	0.80028	0.462000	0.41574	CGC		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		6	10	0	0	0	1	0	6	10					A	15197574	G	A	15197574	3	1	311	1	0	0	0	0	1	0	0	0	7764	1087	38	1	495	1	INSC	11	15197574	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5674863	15197574	119808942	356	31430											
TSG101	7251	broad.mit.edu	37	chr11	18503252	18503252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatagtgtcttcaatagcGttttcttctgcatacagatt	7	7	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	ENST00000251968.3	-	9	1423	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	TSG101_ENST00000536719.1_Silent_p.N336N|TSG101_ENST00000357193.3_Silent_p.N231N	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	336	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1006-1008)aaC>aaT		tumor susceptibility 101							156	148	150					11																	18503252		2199	4293	6492	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503252G>A	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1008C>T	11.37:g.18503252G>A						TSG101_ENST00000357193.3_Silent_p.N231N|TSG101_ENST00000251968.3_Silent_p.N336N	p.N336N			Q99816	TS101_HUMAN			9	1142	-			336			SB.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.1008C>T	CCDS7842.1																																																																																				0.388	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		36	58	0	0	0	1	0	36	58					A	18503252	G	A	18503252	2	1	311	1	0	0	0	0	0	0	0	1	16613	1136	40	1		1	TSG101	11	18503252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3305678	18503252	116503264	357	31431											
TMEM86A	144110	broad.mit.edu	37	chr11	18723160	18723160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacatgttctacgcctcGgcctttggcatgcagccact	8	16	1	0	rs373427296		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	ENST00000280734.2	+	3	423	c.327G>A	c.(325-327)tcG>tcA	p.S109S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	109						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17914	0.0		0.001	False		,,,				2504	0.0					ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(325-327)tcG>tcA		transmembrane protein 86A		G		1,4397	2.1+/-5.4	0,1,2198	92	87	89		327	-6.2	0.9	11		89	0,8586		0,0,4293	no	coding-synonymous	TMEM86A	NM_153347.1		0,1,6491	AA,AG,GG		0.0,0.0227,0.0077		109/241	18723160	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18723160G>A	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.327G>A	11.37:g.18723160G>A						TMEM86A_ENST00000527002.1_3'UTR	p.S109S	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	423	+			109					Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.327G>A	CCDS7844.1																																																																																				0.587	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		92	91	0	0	0	1	0	92	91					A	18723160	G	A	18723160	2	1	311	1	0	0	0	0	0	0	0	1	16205	1103	39	1		1	TMEM86A	11	18723160	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	219908	18723160	116283356	358	31432											
ELP4	26610	broad.mit.edu	37	chr11	31805009	31805009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggatctggcagaatcCgccaagcggctgggcccagg	14	11	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:31805009C>T	ENST00000350638.5	+	10	1247	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	ELP4_ENST00000395934.2_3'UTR|Z83307.3_ENST00000606377.1_lincRNA|ELP4_ENST00000379163.5_Missense_Mutation_p.R452C	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	404					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TGGCAGAATCCGCCAAGCGGC	0.522																																						ENST00000379163.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(1354-1356)Cgc>Tgc		elongator acetyltransferase complex subunit 4							72	79	77					11																	31805009		1922	4137	6059	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805009C>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1212C>T	11.37:g.31805009C>T						ELP4_ENST00000350638.5_Silent_p.S404S|ELP4_ENST00000395934.2_3'UTR	p.R452C			Q96EB1	ELP4_HUMAN			11	1369	+	Lung SC(675;0.225)		349					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1354C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338080	0.60963	.	.	ENSG00000109911	ENST00000379163	T	0.48836	0.8	5.73	1.63	0.23807	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.21827	-1.0234	8	0.87932	D	0	.	6.8463	0.23990	0.1228:0.4561:0.3566:0.0646	.	452	B4E3W0	.	C	452	ENSP00000368461:R452C	ENSP00000368461:R452C	R	+	1	0	ELP4	31761585	0.276000	0.24211	0.024000	0.17045	0.934000	0.57294	-0.073000	0.11468	0.401000	0.25424	0.557000	0.71058	CGC		0.522	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		42	125	0	0	0	1	0	42	125					T	31805009	C	T	31805009	2	4	311	1	0	0	0	0	0	0	0	1	5082	639	23	1		1	ELP4	11	31805009	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13081849	31805009	103201507	359	31433											
QSER1	79832	broad.mit.edu	37	chr11	32997894	32997895	+	Frame_Shift_Ins	INS	-	-	A													tttagatttcttcggtgcagINSaaaaaaaatgaagatttagg					rs529298099|rs553810685		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	ENST00000399302.2	+	13	5417_5418	c.5082_5083insA	c.(5083-5085)aaafs	p.K1695fs	QSER1_ENST00000527788.1_Frame_Shift_Ins_p.K1456fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1695										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(5080-5085)caaaaafs		glutamine and serine rich 1																																				SO:0001589	frameshift_variant	79832							g.chr11:32997894_32997895insA	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5090dupA	11.37:g.32997902_32997902dupA	ENSP00000382241:p.Lys1695fs					QSER1_ENST00000527788.1_Frame_Shift_Ins_p.QK1455fs	p.QK1694fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			13	5417_5418	+	Breast(20;0.158)		1694					Q6ZU30|Q6ZUR5	Frame_Shift_Ins	INS	ENST00000399302.2	37	c.5082_5083insA	CCDS41631.1																																																																																				0.292	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		20	45						20	45	---	---	---	---	A	32997895	-	A	32997894	7	5	311	1	0	1	1	0	0	0	0	0	12882	933	33	0	5124	0	QSER1	11	32997894	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1192885	32997894	102008622	360	31434											
CSTF3	1479	broad.mit.edu	37	chr11	33120307	33120307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccttttcatacttcatgcGactctaaggtggtacagaag	8	9	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	ENST00000323959.4	-	13	1196	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					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						TACTTCATGCGACTCTAAGGT	0.393																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1057-1059)Cgc>Tgc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							171	179	176					11																	33120307		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33120307G>A	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.1057C>T	11.37:g.33120307G>A	ENSP00000315791:p.Arg353Cys					TCP11L1_ENST00000324357.9_Intron	p.R353C	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			13	1196	-			353					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1057C>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448184	0.84101	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.36157	1.27	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.89904	3.07	0.80722	D	1	D	0.58970	0.984	P	0.47744	0.556	T	0.64084	-0.6490	10	0.62326	D	0.03	.	13.1117	0.59277	0.0731:0.0:0.9269:0.0	.	353	Q12996	CSTF3_HUMAN	C	353;286	ENSP00000315791:R353C	ENSP00000315791:R353C	R	-	1	0	CSTF3	33076883	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.863000	0.99569	2.700000	0.92200	0.650000	0.86243	CGC		0.393	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		28	112	0	0	0	1	0	28	112					A	33120307	G	A	33120307	3	1	311	1	0	0	0	0	1	0	0	0	3986	1058	37	1	1132	1	CSTF3	11	33120307	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122413	33120307	101886209	361	31435											
HIPK3	10114	broad.mit.edu	37	chr11	33308890	33308891	+	Frame_Shift_Ins	INS	-	-	A													aacaagtggccactgcactgINSaaaaaattgaaaagtcttgg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	ENST00000303296.4	+	2	1235_1236	c.930_931insA	c.(931-933)aaafs	p.K311fs	HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.K311fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(928-933)ctaaaafs		homeodomain interacting protein kinase 3																																				SO:0001589	frameshift_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308890_33308891insA	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.936dupA	11.37:g.33308896_33308896dupA	ENSP00000304226:p.Lys311fs					HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.LK310fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.LK310fs|HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.LK310fs	p.LK310fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			2	1235_1236	+			310			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Frame_Shift_Ins	INS	ENST00000303296.4	37	c.930_931insA	CCDS7884.1																																																																																				0.391	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		34	168						34	168	---	---	---	---	A	33308891	-	A	33308890	7	5	311	1	0	1	1	0	0	0	0	0	7118	1277	45	0	932	0	HIPK3	11	33308890	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	188583	33308890	101697626	362	31436											
C11orf41	25758	broad.mit.edu	37	chr11	33604946	33604946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctggcgcccattgccGtggtcacggtcatcatcatc	11	14	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33604946G>A	ENST00000321505.4	+	10	3754	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1198M|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1198M			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1192						integral component of membrane (GO:0016021)											GCCCATTGCCGTGGTCACGGT	0.547																																						ENST00000321505.4																			0											c.(3574-3576)Gtg>Atg		KIAA1549-like							40	43	42					11																	33604946		2140	4252	6392	SO:0001583	missense	25758							g.chr11:33604946G>A	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.3574G>A	11.37:g.33604946G>A	ENSP00000315295:p.Val1192Met					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1198M|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1198M	p.V1192M							10	3754	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3574G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044833	0.93685	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.78801	2.425	0.46586	D	0.999119	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84767	0.0765	9	0.87932	D	0	-18.029	19.5469	0.95302	0.0:0.0:1.0:0.0	.	1198;1198	E9PAT2;Q6ZVL6-2	.;.	M	1192;1198;1198;1031	.	ENSP00000265654:V1198M	V	+	1	0	C11orf41	33561522	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.476000	0.97823	2.619000	0.88677	0.561000	0.74099	GTG		0.547	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		9	11	0	0	0	1	0	9	11					A	33604946	G	A	33604946	3	1	311	1	0	0	0	0	1	0	0	0	1640	1145	40	1	3630	1	C11orf41	11	33604946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	296056	33604946	101401570	363	31437											
EXT2	2132	broad.mit.edu	37	chr11	44255740	44255740	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgctcatatgaactgtgaaGatattgccatgaacttcctg	8	8	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	ENST00000343631.3	+	12	2011	c.1882G>C	c.(1882-1884)Gat>Cat	p.D628H	EXT2_ENST00000533608.1_Missense_Mutation_p.D628H|EXT2_ENST00000395673.3_Missense_Mutation_p.D661H|EXT2_ENST00000358681.4_Missense_Mutation_p.D638H			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	628	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1981-1983)Gat>Cat		exostosin glycosyltransferase 2							112	105	107					11																	44255740		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44255740G>C		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1882G>C	11.37:g.44255740G>C	ENSP00000342656:p.Asp628His					EXT2_ENST00000533608.1_Missense_Mutation_p.D628H|EXT2_ENST00000358681.4_Missense_Mutation_p.D638H|EXT2_ENST00000343631.3_Missense_Mutation_p.D628H	p.D661H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			12	2037	+			628					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1981G>C	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889560	0.91889	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.64	5.64	0.86602	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	M	0.91561	3.22	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;1.0;1.0;1.0	D	0.97386	0.9986	10	0.66056	D	0.02	-15.059	19.7174	0.96129	0.0:0.0:1.0:0.0	.	628;638;638;628;641	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	H	628;638;661;628	ENSP00000431173:D628H;ENSP00000351509:D638H;ENSP00000379032:D661H;ENSP00000342656:D628H	ENSP00000342656:D628H	D	+	1	0	EXT2	44212316	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.869000	0.99810	2.653000	0.90120	0.655000	0.94253	GAT		0.428	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		17	41	0	0	0	1	0	17	41					C	44255740	G	C	44255740	3	2	311	1	0	0	0	0	1	0	0	0	5324	942	33	4	2124	4	EXT2	11	44255740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10650794	44255740	90750776	364	31438											
OR8H1	219469	broad.mit.edu	37	chr11	56058354	56058354	+	Frame_Shift_Del	DEL	A	A	-													taaatgacaagtgagtaaggAaaaaatacatgggagtgtga							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	ENST00000313022.2	-	1	212	c.185delT	c.(184-186)ttcfs	p.F62fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62						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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(184-186)tcfs		olfactory receptor, family 8, subfamily H, member 1							250	240	243					11																	56058354		2201	4296	6497	SO:0001589	frameshift_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058354delA	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.185delT	11.37:g.56058354delA	ENSP00000323595:p.Phe62fs						p.F62fs	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	212	-	Esophageal squamous(21;0.00448)		62					B2RNI7|Q6IFC5	Frame_Shift_Del	DEL	ENST00000313022.2	37	c.185delT	CCDS31526.1																																																																																				0.403	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		10	354						10	354	---	---	---	---	-	56058354	A	-	56058354	7	5	311	1	0	1	0	1	0	0	0	0	11237	246	9	0	752	0	OR8H1	11	56058354	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	11802614	56058354	78948162	365	31439											
TCN1	6947	broad.mit.edu	37	chr11	59623424	59623424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagacctgggctgcagcGtttggattgctgaatgctcc	14	9	0	2	rs72550759	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:59623424G>A	ENST00000257264.3	-	6	959	c.855C>T	c.(853-855)aaC>aaT	p.N285N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	285	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)	GGGCTGCAGCGTTTGGATTGC	0.413													g|||	3	0.000599042	0.0	0.0014	5008	,	,		17603	0.0		0.002	False		,,,				2504	0.0					ENST00000257264.3																			0				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						c.(853-855)aaC>aaT		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)			0,4402		0,0,2201	133	133	133		855	-0.9	0.1	11	dbSNP_130	133	7,8583	5.7+/-21.5	0,7,4288	no	coding-synonymous	TCN1	NM_001062.3		0,7,6489	AA,AG,GG		0.0815,0.0,0.0539		285/434	59623424	7,12985	2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59623424G>A	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.855C>T	11.37:g.59623424G>A						TCN1_ENST00000532419.1_Intron	p.N285N	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			6	959	-		all_epithelial(135;0.198)	285					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.855C>T	CCDS7978.1																																																																																				0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		5	126	0	0	0	1	0	5	126					A	59623424	G	A	59623424	2	1	311	1	0	0	0	0	0	0	0	1	15703	1136	40	1		1	TCN1	11	59623424	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3565070	59623424	75383092	366	31440											
INCENP	3619	broad.mit.edu	37	chr11	61912746	61912746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtttgctcagatcgaCgagaagactgagaaggtggg	15	6	1	5	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	ENST00000394818.3	+	13	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_ENST00000278849.4_Silent_p.D603D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	607					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						CTCAGATCGACGAGAAGACTG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0					ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1819-1821)gaC>gaT		inner centromere protein antigens 135/155kDa		C	,	0,4404		0,0,2202	102	106	104		1821,1809	-4.4	0.3	11	dbSNP_134	104	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	INCENP	NM_001040694.1,NM_020238.2	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	607/919,603/915	61912746	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61912746C>T	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.1821C>T	11.37:g.61912746C>T						INCENP_ENST00000278849.4_Silent_p.D603D	p.D607D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			13	2023	+			607					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.1821C>T	CCDS44624.1																																																																																				0.577	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		9	131	0	0	0	1	0	9	131					T	61912746	C	T	61912746	2	4	311	1	0	0	0	0	0	0	0	1	7733	535	19	1		1	INCENP	11	61912746	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2289322	61912746	73093770	367	31441											
MTA2	9219	broad.mit.edu	37	chr11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	GAGA	-													gttggcgctggttgtgtaagGagagagactttgagcttcag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	ENST00000278823.2	-	14	1692_1695	c.1303_1306delTCTC	c.(1303-1308)tctcctfs	p.SP435fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|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)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.51																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1303-1308)ctfs		metastasis associated 1 family, member 2																																				SO:0001589	frameshift_variant	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62362913_62362916delGAGA	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1303_1306delTCTC	11.37:g.62362917_62362920delGAGA	ENSP00000278823:p.Ser435fs					MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	p.SP435fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			14	1692_1695	-			435					Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	ENST00000278823.2	37	c.1303_1306delTCTC	CCDS8022.1																																																																																				0.51	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		36	157						36	157	---	---	---	---	-	62362916	GAGA	-	62362913	7	5	311	1	0	1	0	1	0	0	0	0	9909	1174	41	0	720	0	MTA2	11	62362913	Frame_Shift_Del	DEL	GAGA	TCGA-HT-8564-01A-11D-2395-08	450167	62362913	72643603	368	31442											
GANAB	23193	broad.mit.edu	37	chr11	62397318	62397318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagatgttatgcacatcccGgtgctcccagcccccataat	7	14	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62397318G>A	ENST00000356638.3	-	14	1721	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000346178.4_Missense_Mutation_p.R591W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	569					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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGCACATCCCGGTGCTCCCAG	0.522																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(1771-1773)Cgg>Tgg		glucosidase, alpha; neutral AB							98	87	91					11																	62397318		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62397318G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1705C>T	11.37:g.62397318G>A	ENSP00000349053:p.Arg569Trp					GANAB_ENST00000356638.3_Missense_Mutation_p.R569W|GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	p.R591W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			15	1786	-			569					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.1771C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678823	0.68042	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.31	5.31	0.75309	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.997	D;D;D;D	0.97110	1.0;1.0;0.911;0.915	D	0.97442	1.0022	10	0.87932	D	0	-19.1509	11.4061	0.49898	0.0:0.0:0.82:0.18	.	455;477;569;591	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	W	591;569;477;472	ENSP00000340466:R591W;ENSP00000349053:R569W;ENSP00000435306:R477W;ENSP00000442962:R472W	ENSP00000340466:R591W	R	-	1	2	GANAB	62153894	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.005000	0.63972	2.779000	0.95612	0.655000	0.94253	CGG		0.522	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		5	120	0	0	0	1	0	5	120					A	62397318	G	A	62397318	3	1	311	1	0	0	0	0	1	0	0	0	6233	1115	39	1	1173	1	GANAB	11	62397318	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	34405	62397318	72609198	369	31443											
RASGRP2	10235	broad.mit.edu	37	chr11	64506852	64506852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatggtctcagggctaaCgtggctgtgggtctccttga	14	9	2	2	rs542524220		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	ENST00000354024.3	-	8	1045	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377494.1_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	265	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(793-795)Gtt>Att		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							74	73	74					11																	64506852		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64506852C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.793G>A	11.37:g.64506852C>T	ENSP00000338864:p.Val265Ile					RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000354024.3_Missense_Mutation_p.V265I	p.V265I			Q7LDG7	GRP2_HUMAN			7	1715	-			265			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.793G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	7.736	0.700184	0.15106	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.93	1.94	0.25998	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.338978	0.30392	N	0.009725	T	0.22475	0.0542	L	0.28776	0.89	0.80722	D	1	B;B	0.17852	0.011;0.024	B;B	0.23419	0.023;0.046	T	0.05289	-1.0894	10	0.28530	T	0.3	-1.5348	5.5172	0.16914	0.0:0.4666:0.3527:0.1807	.	265;265	Q7LDG7;A6NDC7	GRP2_HUMAN;.	I	265	ENSP00000366714:V265I;ENSP00000377953:V265I;ENSP00000366717:V265I;ENSP00000338864:V265I	ENSP00000338864:V265I	V	-	1	0	RASGRP2	64263428	0.049000	0.20398	0.155000	0.22561	0.107000	0.19398	0.117000	0.15583	0.195000	0.20347	-0.181000	0.13052	GTT		0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		11	66	0	0	0	1	0	11	66					T	64506852	C	T	64506852	3	4	311	1	0	0	0	0	1	0	0	0	13075	536	19	1	1072	1	RASGRP2	11	64506852	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2109534	64506852	70499664	370	31444											
SF1	7536	broad.mit.edu	37	chr11	64532975	64532975	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctcgggccatcgccGccgcggggagggatcctggc	17	14	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64532975G>A	ENST00000377390.3	-	0	2572				SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000377387.1_Missense_Mutation_p.A658V|SF1_ENST00000334944.5_Silent_p.G601G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCCATCGCCGCCGCGGGGAG	0.637																																						ENST00000377387.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1972-1974)gCg>gTg		splicing factor 1							62	72	69					11																	64532975		2201	4297	6498	SO:0001624	3_prime_UTR_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64532975G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.*315C>T	11.37:g.64532975G>A						SF1_ENST00000377390.3_3'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000334944.5_Silent_p.G601G|SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V	p.A658V	NM_001178030.1	NP_001171501.1	Q15637	SF01_HUMAN			13	2049	-			533					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1973C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662358	0.47572	.	.	ENSG00000168066	ENST00000377387;ENST00000227503;ENST00000422298;ENST00000443908	T;T;T;T	0.51071	0.72;0.88;0.87;0.85	5.54	5.54	0.83059	.	0.541967	0.18100	N	0.151714	T	0.67534	0.2903	.	.	.	0.23640	N	0.997227	D;D;D	0.76494	0.959;0.976;0.999	P;P;D	0.71184	0.499;0.695;0.972	T	0.61898	-0.6968	9	0.87932	D	0	.	14.9859	0.71348	0.0:0.0:1.0:0.0	.	418;533;658	B4DX42;Q15637-4;Q15637-5	.;.;.	V	658;533;418;185	ENSP00000366604:A658V;ENSP00000227503:A533V;ENSP00000413084:A418V;ENSP00000391198:A185V	ENSP00000227503:A533V	A	-	2	0	SF1	64289551	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.235000	0.58666	2.607000	0.88179	0.462000	0.41574	GCG		0.637	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		123	117	0	0	0	1	0	123	117					A	64532975	G	A	64532975	1	1	311	0	1	0	0	0	0	0	0	0	14145	1087	38	1		1	SF1	11	64532975	3'UTR	SNP	G	TCGA-HT-8564-01A-11D-2395-08	26123	64532975	70473541	371	31445											
C11orf2	738	broad.mit.edu	37	chr11	64875676	64875676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcgtgcagggagggcGgctcaggcgccccggagcag	17	15	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64875676G>A	ENST00000279281.3	+	5	825	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	245					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGGAGGGCGGCTCAGGCGC	0.716																																						ENST00000279281.3																			0											c.(733-735)Ggc>Agc		vacuolar protein sorting 51 homolog (S. cerevisiae)							6	7	6					11																	64875676		2079	4061	6140	SO:0001583	missense	738							g.chr11:64875676G>A	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.733G>A	11.37:g.64875676G>A	ENSP00000279281:p.Gly245Ser					VPS51_ENST00000527646.1_3'UTR	p.G245S	NM_013265.2	NP_037397.2					5	825	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.733G>A	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	3.858	-0.030529	0.07543	.	.	ENSG00000149823	ENST00000530773;ENST00000279281;ENST00000529180;ENST00000534557	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.47	2.53	0.30540	Cullin repeat-like-containing domain (1);	0.158991	0.56097	N	0.000029	T	0.52948	0.1766	N	0.12961	0.28	0.47819	D	0.999524	B	0.23650	0.089	B	0.15052	0.012	T	0.34725	-0.9817	10	0.07990	T	0.79	-14.1416	6.7127	0.23286	0.0967:0.0:0.7206:0.1828	.	245	Q9UID3	FFR_HUMAN	S	196;245;270;159	ENSP00000434138:G196S;ENSP00000279281:G245S;ENSP00000435245:G270S;ENSP00000435691:G159S	ENSP00000279281:G245S	G	+	1	0	C11orf2	64632252	0.991000	0.36638	0.998000	0.56505	0.043000	0.13939	2.520000	0.45554	0.469000	0.27268	-0.275000	0.10095	GGC		0.716	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		5	17	0	0	0	1	0	5	17					A	64875676	G	A	64875676	3	1	311	1	0	0	0	0	1	0	0	0	1633	1116	39	1	751	1	C11orf2	11	64875676	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	342701	64875676	70130840	372	31446											
EFEMP2	30008	broad.mit.edu	37	chr11	65635366	65635366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgcgagtttccagcaCggatctgaaaggcattgtag	11	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	ENST00000307998.6	-	10	1366	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	379					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552																																						ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1135-1137)cGt>cAt		EGF containing fibulin-like extracellular matrix protein 2							96	95	95					11																	65635366		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65635366C>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1136G>A	11.37:g.65635366C>T	ENSP00000309953:p.Arg379His					EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	10	1366	-			379					A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.1136G>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153171	0.94645	.	.	ENSG00000172638	ENST00000526911;ENST00000531645;ENST00000528176;ENST00000307998;ENST00000530806	D;D;D;D;T	0.84070	-1.8;-1.55;-1.59;-1.54;-0.85	5.37	5.37	0.77165	.	0.000000	0.53938	D	0.000055	D	0.89880	0.6843	M	0.67953	2.075	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.987	D	0.89631	0.3855	10	0.48119	T	0.1	.	16.5806	0.84714	0.0:1.0:0.0:0.0	.	379;379	E9PRU1;O95967	.;FBLN4_HUMAN	H	38;95;379;379;32	ENSP00000436536:R38H;ENSP00000436521:R95H;ENSP00000434151:R379H;ENSP00000309953:R379H;ENSP00000436526:R32H	ENSP00000309953:R379H	R	-	2	0	EFEMP2	65391942	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	4.605000	0.61119	2.529000	0.85273	0.455000	0.32223	CGT		0.552	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		40	132	0	0	0	1	0	40	132					T	65635366	C	T	65635366	3	4	311	1	0	0	0	0	1	0	0	0	4942	536	19	1	203	1	EFEMP2	11	65635366	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	759690	65635366	69371150	373	31447											
PELI3	246330	broad.mit.edu	37	chr11	66243521	66243521	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagactgcccgctactgggcCcagacaccactgccccacgg	10	18	0	2	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	ENST00000320740.7	+	8	1453	c.1293C>A	c.(1291-1293)gcC>gcA	p.A431A	CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Silent_p.A407A|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	431					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1219-1221)gcC>gcA		pellino E3 ubiquitin protein ligase family member 3							20	19	19					11																	66243521		2186	4239	6425	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66243521C>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1293C>A	11.37:g.66243521C>A						CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Silent_p.A431A	p.A407A	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1505	+			431					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.1221C>A	CCDS31615.1																																																																																				0.672	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		10	18	1	0	2.17888e-05	1	2.20124e-05	10	18					A	66243521	C	A	66243521	2	1	311	1	0	0	0	0	0	0	0	1	11723	610	22	4		4	PELI3	11	66243521	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608155	66243521	68762995	374	31448											
BBS1	582	broad.mit.edu	37	chr11	66297334	66297334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctatacctgctgcgcctaCgtgctgcccgcgcctacctg	9	18	0	0	rs577426256		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66297334C>T	ENST00000318312.7	+	14	1435	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.R365C|BBS1_ENST00000393994.2_Missense_Mutation_p.R333C|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.R499C	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	462					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						GCTGCGCCTACGTGCTGCCCG	0.677									Bardet-Biedl syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16322	0.0		0.001	False		,,,				2504	0.0				GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1495-1497)Cgt>Tgt									87	59	68					11																	66297334		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66297334C>T	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.1384C>T	11.37:g.66297334C>T	ENSP00000317469:p.Arg462Cys					ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.R462C|BBS1_ENST00000455748.2_Missense_Mutation_p.R365C|BBS1_ENST00000393994.2_Missense_Mutation_p.R333C	p.R499C							14	1573	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1495C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820979	0.71028	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96992	-4.12;-4.2;-4.01;-3.93	4.46	4.46	0.54185	.	.	.	.	.	D	0.96324	0.8801	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D	0.71674	0.992;0.998;0.998;0.992;0.992;0.99	P;P;D;P;P;P	0.64042	0.656;0.804;0.921;0.635;0.541;0.556	D	0.95744	0.8786	9	0.56958	D	0.05	.	10.2729	0.43493	0.1976:0.8024:0.0:0.0	.	137;365;333;350;462;499	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	C	499;462;365;333	ENSP00000398526:R499C;ENSP00000317469:R462C;ENSP00000405764:R365C;ENSP00000377563:R333C	ENSP00000317469:R462C	R	+	1	0	BBS1;CTD-3074O7.11	66053910	1.000000	0.71417	0.986000	0.45419	0.825000	0.46686	2.991000	0.49409	2.200000	0.70718	0.655000	0.94253	CGT		0.677	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			30	44	0	0	0	1	0	30	44					T	66297334	C	T	66297334	3	4	311	1	0	0	0	0	1	0	0	0	1335	536	19	1	1438	1	BBS1	11	66297334	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	53813	66297334	68709182	375	31449											
SPTBN2	6712	broad.mit.edu	37	chr11	66460877	66460877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgctccctcaggtccGcgatccggggctcatggccc	13	18	2	0	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	ENST00000533211.1	-	24	4965	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1545					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						CCTCAGGTCCGCGATCCGGGG	0.627																																						ENST00000533211.1																			0				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						c.(4633-4635)gCg>gTg		spectrin, beta, non-erythrocytic 2		G	VAL/ALA	1,4399		0,1,2199	22	24	23		4634	3.4	0.9	11	dbSNP_134	23	5,8585	4.3+/-15.6	0,5,4290	yes	missense	SPTBN2	NM_006946.2	64	0,6,6489	AA,AG,GG		0.0582,0.0227,0.0462	benign	1545/2391	66460877	6,12984	2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460877G>A	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.4634C>T	11.37:g.66460877G>A	ENSP00000432568:p.Ala1545Val					SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V	p.A1545V			O15020	SPTN2_HUMAN			24	4965	-			1545					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4634C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217187	0.58560	2.27E-4	5.82E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50548	0.74;0.74;0.74	4.34	3.4	0.38934	.	0.070003	0.64402	D	0.000018	T	0.27419	0.0673	N	0.20685	0.6	0.36982	D	0.894328	P	0.48089	0.905	B	0.36534	0.227	T	0.21381	-1.0247	10	0.38643	T	0.18	.	10.0278	0.42081	0.0:0.0:0.4979:0.5021	.	1545	O15020	SPTN2_HUMAN	V	1545	ENSP00000432568:A1545V;ENSP00000311489:A1545V;ENSP00000433593:A1545V	ENSP00000311489:A1545V	A	-	2	0	SPTBN2	66217453	0.996000	0.38824	0.898000	0.35279	0.752000	0.42762	3.796000	0.55507	1.004000	0.39156	0.462000	0.41574	GCG		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		9	35	0	0	0	1	0	9	35					A	66460877	G	A	66460877	3	1	311	1	0	0	0	0	1	0	0	0	15119	1087	38	1	2598	1	SPTBN2	11	66460877	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	163543	66460877	68545639	376	31450											
RCE1	9986	broad.mit.edu	37	chr11	66612694	66612696	+	In_Frame_Del	DEL	TCT	TCT	-													ccagagcagcgtggggaacaTcttcttgtctgctggtgagt					rs375531678		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	ENST00000309657.3	+	6	721_723	c.677_679delTCT	c.(676-681)atcttc>atc	p.F227del	RCE1_ENST00000524506.1_In_Frame_Del_p.F227del|RCE1_ENST00000525356.1_In_Frame_Del_p.F104del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	227					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(676-681)atc>a		Ras converting CAAX endopeptidase 1																																				SO:0001651	inframe_deletion	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66612694_66612696delTCT	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.677_679delTCT	11.37:g.66612697_66612699delTCT	ENSP00000309163:p.Phe227del					RCE1_ENST00000525356.1_In_Frame_Del_p.IF103del|RCE1_ENST00000524506.1_In_Frame_Del_p.IF226del	p.IF226del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			6	721_723	+			226					Q52LZ9	In_Frame_Del	DEL	ENST00000309657.3	37	c.677_679delTCT	CCDS8151.1																																																																																				0.527	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		30	52						30	52	---	---	---	---	-	66612696	TCT	-	66612694	7	5	311	1	0	1	0	1	0	0	0	0	13176	1435	50	0	699	0	RCE1	11	66612694	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	151817	66612694	68393822	377	31451											
KDM2A	22992	broad.mit.edu	37	chr11	67012792	67012792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattgtgtcaggagccagaCggagacgagtgcgatgtcga	16	8	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	ENST00000529006.2	+	14	2142	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W|KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	566					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						AGGAGCCAGACGGAGACGAGT	0.552																																						ENST00000529006.2																			0				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						c.(1696-1698)Cgg>Tgg		lysine (K)-specific demethylase 2A							81	88	86					11																	67012792		2113	4233	6346	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012792C>T	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.1696C>T	11.37:g.67012792C>T	ENSP00000432786:p.Arg566Trp					KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W	p.R566W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			14	2142	+			566					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1696C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676972	0.88445	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T;T	0.56611	0.45;1.75;1.34;1.37	5.44	4.49	0.54785	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	T	0.75027	0.3794	M	0.86953	2.85	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79150	-0.1922	10	0.87932	D	0	-15.2345	14.3133	0.66432	0.2572:0.7428:0.0:0.0	.	24;566	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	W	566;566;127;127;24	ENSP00000381640:R566W;ENSP00000432786:R566W;ENSP00000435776:R127W;ENSP00000309302:R24W	ENSP00000309302:R24W	R	+	1	2	KDM2A	66769368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.704000	0.61831	2.832000	0.97577	0.655000	0.94253	CGG		0.552	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		38	86	0	0	0	1	0	38	86					T	67012792	C	T	67012792	3	4	311	1	0	0	0	0	1	0	0	0	8124	527	19	1	1746	1	KDM2A	11	67012792	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	400098	67012792	67993724	378	31452											
TBX10	347853	broad.mit.edu	37	chr11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-													cccaggatcttcacctggaaGggggggaacatcctcctgcg					rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	ENST00000335385.3	-	3	378	c.291delC	c.(289-291)cccfs	p.P97fs		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					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						TCACCTGGAAGGGGGGGAACA	0.677																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(289-291)ccfs		T-box 10							50	49	49					11																	67402373		2200	4294	6494	SO:0001589	frameshift_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402373delG	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.291delC	11.37:g.67402373delG	ENSP00000335191:p.Pro97fs						p.P97fs	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			3	378	-			97					Q14D64|Q86XS3	Frame_Shift_Del	DEL	ENST00000335385.3	37	c.291delC	CCDS31621.1																																																																																				0.677	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		43	58						43	58	---	---	---	---	-	67402373	G	-	67402373	7	5	311	1	0	1	0	1	0	0	0	0	15648	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	389581	67402373	67604143	379	31453											
SUV420H1	51111	broad.mit.edu	37	chr11	67925272	67925272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggaataaaatcGtcttcaaagtcatcatcata	9	6	5	1	rs371668215		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	ENST00000304363.4	-	11	2894	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	847					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2539-2541)gaC>gaT		suppressor of variegation 4-20 homolog 1 (Drosophila)		G		0,4400		0,0,2200	90	92	91		2541	-3.5	0.4	11		91	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	SUV420H1	NM_017635.3		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		847/886	67925272	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925272G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2541C>T	11.37:g.67925272G>A							p.D847D	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2894	-			847					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.2541C>T	CCDS31623.1																																																																																				0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		39	43	0	0	0	1	0	39	43					A	67925272	G	A	67925272	2	1	311	1	0	0	0	0	0	0	0	1	15411	1136	40	1		1	SUV420H1	11	67925272	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	522899	67925272	67081244	380	31454											
MRGPRD	116512	broad.mit.edu	37	chr11	68748335	68748335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgttgcctgccatccCgcacaggcaggtgaacatgg	12	13	0	1	rs144924033	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	ENST00000309106.3	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	41						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(121-123)Ggg>Agg		MAS-related GPR, member D		C	ARG/GLY	0,4400		0,0,2200	63	61	61		121	2.3	0	11	dbSNP_134	61	2,8586	2.2+/-6.3	0,2,4292	yes	missense	MRGPRD	NM_198923.2	125	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	41/322	68748335	2,12986	2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748335C>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.121G>A	11.37:g.68748335C>T	ENSP00000310631:p.Gly41Arg						p.G41R	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	120	-			41					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.121G>A	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841020	0.71488	0.0	2.33E-4	ENSG00000172938	ENST00000309106	T	0.18502	2.21	5.17	2.29	0.28610	.	0.000000	0.45867	U	0.000328	T	0.19127	0.0459	N	0.08118	0	0.42971	D	0.994434	D	0.89917	1.0	D	0.85130	0.997	T	0.07121	-1.0789	10	0.87932	D	0	-31.3446	8.9011	0.35495	0.0:0.7506:0.0:0.2494	.	41	Q8TDS7	MRGRD_HUMAN	R	41	ENSP00000310631:G41R	ENSP00000310631:G41R	G	-	1	0	MRGPRD	68504911	0.933000	0.31639	0.023000	0.16930	0.123000	0.20343	2.540000	0.45727	0.215000	0.20761	0.467000	0.42956	GGG		0.597	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		53	53	0	0	0	1	0	53	53					T	68748335	C	T	68748335	3	4	311	1	0	0	0	0	1	0	0	0	9763	652	23	1	847	1	MRGPRD	11	68748335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	823063	68748335	66258181	381	31455											
PRCP	5547	broad.mit.edu	37	chr11	82550376	82550376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggcatttcacctggcccGaataattgtaatatacattc	6	10	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	ENST00000313010.3	-	7	1207	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_ENST00000393399.2_Missense_Mutation_p.S359L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.S233L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	338					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1012-1014)tCg>tTg		prolylcarboxypeptidase (angiotensinase C)							95	95	95					11																	82550376		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82550376G>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1013C>T	11.37:g.82550376G>A	ENSP00000317362:p.Ser338Leu					PRCP_ENST00000393399.2_Missense_Mutation_p.S359L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.S233L	p.S338L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			7	1207	-			338					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1013C>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427546	0.83667	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801	T;T;T;T	0.32988	2.56;2.56;2.56;1.43	5.48	5.48	0.80851	.	0.059077	0.64402	D	0.000004	T	0.54598	0.1868	M	0.85630	2.765	0.58432	D	0.999996	D;P	0.67145	0.996;0.911	P;P	0.54026	0.74;0.658	T	0.60737	-0.7204	9	.	.	.	-6.187	19.3474	0.94370	0.0:0.0:1.0:0.0	.	338;359	P42785;A8MU24	PCP_HUMAN;.	L	338;359;233;233	ENSP00000317362:S338L;ENSP00000377055:S359L;ENSP00000442077:S233L;ENSP00000432004:S233L	.	S	-	2	0	PRCP	82228024	1.000000	0.71417	0.999000	0.59377	0.300000	0.27592	8.979000	0.93455	2.584000	0.87258	0.561000	0.74099	TCG		0.403	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		27	103	0	0	0	1	0	27	103					A	82550376	G	A	82550376	3	1	311	1	0	0	0	0	1	0	0	0	12449	1059	37	1	489	1	PRCP	11	82550376	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13802041	82550376	52456140	382	31456											
PCF11	51585	broad.mit.edu	37	chr11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	AG	-													aacagaagagtcagaaaaacAggggacaaaaccagggagat					rs577705098	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	ENST00000298281.4	+	5	1852_1853	c.1400_1401delAG	c.(1399-1401)cagfs	p.Q467fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	467					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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 factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1399-1401)cfs		PCF11 cleavage and polyadenylation factor subunit																																				SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877339_82877340delAG	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1400_1401delAG	11.37:g.82877339_82877340delAG	ENSP00000298281:p.Gln467fs						p.Q467fs	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	1852_1853	+			467					A6H8W7|O43671|Q6P0X8	Frame_Shift_Del	DEL	ENST00000298281.4	37	c.1400_1401delAG	CCDS44689.1																																																																																				0.411	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		11	18						11	18	---	---	---	---	-	82877340	AG	-	82877339	7	5	311	1	0	1	0	1	0	0	0	0	11573	188	7	0	1418	0	PCF11	11	82877339	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	326963	82877339	52129177	383	31457											
FAT3	120114	broad.mit.edu	37	chr11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggttatcagtgaagacGccttggtgggagactctgtc	15	8	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31. {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)				CAGTGAAGACGCCTTGGTGGG	0.483										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(10060-10062)Gcc>Acc		FAT atypical cadherin 3							47	48	47					11																	92568224		1939	4145	6084	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568224G>A	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.10060G>A	11.37:g.92568224G>A	ENSP00000298047:p.Ala3354Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T	p.A3354T			Q8TDW7	FAT3_HUMAN			14	10077	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3354			Cadherin 31.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10060G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.467291	0.96257	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02682	4.2;4.2;4.2	5.46	5.46	0.80206	.	.	.	.	.	T	0.12050	0.0293	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02560	-1.1141	9	0.42905	T	0.14	.	19.3231	0.94250	0.0:0.0:1.0:0.0	.	3354	Q8TDW7-3	.	T	3354;3354;3204	ENSP00000298047:A3354T;ENSP00000387040:A3354T;ENSP00000432586:A3204T	ENSP00000298047:A3354T	A	+	1	0	FAT3	92207872	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	6.626000	0.74253	2.539000	0.85634	0.655000	0.94253	GCC		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	33	0	0	0	1	0	3	33					A	92568224	G	A	92568224	3	1	311	1	0	0	0	0	1	0	0	0	5691	1087	38	1	10114	1	FAT3	11	92568224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9690885	92568224	42438292	384	31458											
AMOTL1	154810	broad.mit.edu	37	chr11	94554766	94554766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctcccagacctcttccGccagcgggccactgcactct	8	19	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	ENST00000433060.2	+	4	1333	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	398					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1192-1194)Gcc>Acc		angiomotin like 1							27	33	31					11																	94554766		2116	4237	6353	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94554766G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1192G>A	11.37:g.94554766G>A	ENSP00000387739:p.Ala398Thr					AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T	p.A398T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			4	1333	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	398					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1192G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	1.384	-0.582538	0.03827	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.17854	2.26;2.25	5.68	-0.178	0.13303	.	1.097780	0.06817	N	0.791576	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	B;B	0.22003	0.001;0.063	B;B	0.11329	0.001;0.006	T	0.39165	-0.9627	10	0.16896	T	0.51	-8.2725	2.5962	0.04855	0.4456:0.1165:0.3198:0.1181	.	348;398	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	T	348;404;398	ENSP00000320968:A348T;ENSP00000387739:A398T	ENSP00000320968:A348T	A	+	1	0	AMOTL1	94194414	0.000000	0.05858	0.005000	0.12908	0.264000	0.26372	-0.330000	0.07925	0.051000	0.15978	-0.258000	0.10820	GCC		0.662	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		18	25	0	0	0	1	0	18	25					A	94554766	G	A	94554766	3	1	311	1	0	0	0	0	1	0	0	0	583	1087	38	1	1206	1	AMOTL1	11	94554766	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1986542	94554766	40451750	385	31459											
AASDHPPT	60496	broad.mit.edu	37	chr11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagaagaaattccaataCgaaatggtacaaagtcatga	7	7	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	ENST00000278618.4	+	6	1132	c.910C>T	c.(910-912)Cga>Tga	p.R304*	RP11-677I18.3_ENST00000532422.1_RNA|RP11-677I18.3_ENST00000527594.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	304					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348																																						ENST00000278618.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(910-912)Cga>Tga		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase							68	60	63					11																	105967614		2201	4298	6499	SO:0001587	stop_gained	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105967614C>T	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.910C>T	11.37:g.105967614C>T	ENSP00000278618:p.Arg304*					RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	p.R304*	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	6	1132	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	304					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Nonsense_Mutation	SNP	ENST00000278618.4	37	c.910C>T	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034431	0.75617	.	.	ENSG00000149313	ENST00000278618	.	.	.	5.5	1.46	0.22682	.	0.058865	0.64402	D	0.000004	.	.	.	.	.	.	0.42077	D	0.991237	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.519	0.16921	0.4207:0.4297:0.0:0.1497	.	.	.	.	X	304	.	ENSP00000278618:R304X	R	+	1	2	AASDHPPT	105472824	0.997000	0.39634	0.993000	0.49108	0.244000	0.25665	1.030000	0.30153	0.263000	0.21812	-0.145000	0.13849	CGA		0.348	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		9	29	0	0	0	1	0	9	29					T	105967614	C	T	105967614	4	4	311	1	0	0	0	0	0	1	0	0	23	528	19	1	932	1	AASDHPPT	11	105967614	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11412848	105967614	29038902	386	31460											
PCSK7	9159	broad.mit.edu	37	chr11	117100140	117100140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgttgaagtggacgctgcGcttggcccgccttagcagcc	14	13	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	ENST00000320934.3	-	3	1051	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis. {ECO:0000250}.			peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(421-423)Cgc>Tgc		proprotein convertase subtilisin/kexin type 7							87	91	89					11																	117100140		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117100140G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.421C>T	11.37:g.117100140G>A	ENSP00000325917:p.Arg141Cys						p.R141C	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	3	1051	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	141				Cleavage; by autolysis (By similarity).	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.421C>T	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097102	0.56075	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	T;T	0.64438	-0.1;0.95	4.06	4.06	0.47325	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.81361	0.4806	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.84864	0.0821	10	0.87932	D	0	-24.0593	10.3974	0.44209	0.0:0.0:0.8044:0.1956	.	141	Q16549	PCSK7_HUMAN	C	141	ENSP00000325917:R141C;ENSP00000431181:R141C	ENSP00000325917:R141C	R	-	1	0	PCSK7	116605350	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.830000	0.48136	2.097000	0.63578	0.462000	0.41574	CGC		0.617	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		48	170	0	0	0	1	0	48	170					A	117100140	G	A	117100140	3	1	311	1	0	0	0	0	1	0	0	0	11605	1087	38	1	1996	1	PCSK7	11	117100140	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11132526	117100140	17906376	387	31461											
ABCG4	64137	broad.mit.edu	37	chr11	119029628	119029628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccaagaccatggctgacGtgccctttcaggtgggcctc	13	13	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	ENST00000449422.2	+	12	1614	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M|ABCG4_ENST00000307417.3_Missense_Mutation_p.V476M|AP002956.1_ENST00000599663.1_5'Flank	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	476	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	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)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		CATGGCTGACGTGCCCTTTCA	0.542																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1426-1428)Gtg>Atg		ATP-binding cassette, sub-family G (WHITE), member 4							259	167	198					11																	119029628		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119029628G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1426G>A	11.37:g.119029628G>A	ENSP00000406874:p.Val476Met					ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M|ABCG4_ENST00000449422.2_Missense_Mutation_p.V476M	p.V476M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	12	1790	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	476			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1426G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331467	0.60853	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.73	5.73	0.89815	ABC-2 type transporter (1);	0.051852	0.85682	D	0.000000	T	0.69468	0.3114	L	0.45051	1.395	0.58432	D	0.999994	P	0.46952	0.887	B	0.44163	0.443	T	0.70967	-0.4728	10	0.49607	T	0.09	-24.3139	19.5014	0.95097	0.0:0.0:1.0:0.0	.	476	Q9H172	ABCG4_HUMAN	M	476	ENSP00000304111:V476M;ENSP00000406874:V476M;ENSP00000434318:V476M	ENSP00000304111:V476M	V	+	1	0	ABCG4	118534838	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	6.091000	0.71406	2.693000	0.91896	0.655000	0.94253	GTG		0.542	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		47	136	0	0	0	1	0	47	136					A	119029628	G	A	119029628	3	1	311	1	0	0	0	0	1	0	0	0	70	1145	40	1	1468	1	ABCG4	11	119029628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1929488	119029628	15976888	388	31462											
ZNF202	7753	broad.mit.edu	37	chr11	123596990	123596990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtgcgtcttccggtgCgccaggtaccgcctgtgttc	14	14	1	0	rs376072348		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	ENST00000529691.1	-	7	1881	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000336139.4_Silent_p.A554A			O95125	ZN202_HUMAN	zinc finger protein 202	554					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)		TCTTCCGGTGCGCCAGGTACC	0.577																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1660-1662)gcG>gcA		zinc finger protein 202		C		1,4403	2.1+/-5.4	0,1,2201	73	70	71		1662	-9.2	0.8	11		71	0,8598		0,0,4299	no	coding-synonymous	ZNF202	NM_003455.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		554/649	123596990	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123596990C>T	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.1662G>A	11.37:g.123596990C>T						ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000529691.1_Silent_p.A554A	p.A554A			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	8	2024	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	554					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1662G>A	CCDS8443.1																																																																																				0.577	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		61	69	0	0	0	1	0	61	69					T	123596990	C	T	123596990	2	4	311	1	0	0	0	0	0	0	0	1	17760	755	27	1		1	ZNF202	11	123596990	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4567362	123596990	11409526	389	31463											
OR10G7	390265	broad.mit.edu	37	chr11	123909049	123909049	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccgcaggatggaacagacGatggacacataggacagcac	12	10	0	1	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	ENST00000330487.5	-	1	668	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	220						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)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		TGGAACAGACGATGGACACAT	0.557																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(658-660)atC>atT		olfactory receptor, family 10, subfamily G, member 7							144	125	131					11																	123909049		2201	4298	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909049G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.660C>T	11.37:g.123909049G>A							p.I220I	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	668	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	220					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.660C>T	CCDS31705.1																																																																																				0.557	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		31	106	0	0	0	1	0	31	106					A	123909049	G	A	123909049	2	1	311	1	0	0	0	0	0	0	0	1	10902	1048	37	1		1	OR10G7	11	123909049	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	312059	123909049	11097467	390	31464											
NINJ2	283358	broad.mit.edu	37	chr12	674455	674455	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccctgttttatgtgccccGaaggctgtaatgaaaacatt	8	9	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F|NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000305108.4_Silent_p.F171F	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TATGTGCCCCGAAGGCTGTAA	0.537																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(511-513)ttC>ttT		ninjurin 2							95	83	87					12																	674455		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:674455G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674455G>A						NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F	p.F171F	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		3	793	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		125					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.513C>T	CCDS8504.1																																																																																				0.537	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	91	0	0	0	1	0	9	91					A	674455	G	A	674455	1	1	311	0	1	0	0	0	0	0	0	0	10419	1049	37	1		1	NINJ2	12	674455	IGR	SNP	G	TCGA-HT-8564-01A-11D-2395-08		674455	133177440	391	31465											
KCNA1	3736	broad.mit.edu	37	chr12	5021390	5021390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaggaaaccagaagggCgagcaggccacctccctggc	14	13	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	ENST00000382545.3	+	2	1953	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	282					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(844-846)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						67	71	70					12																	5021390		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021390C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.846C>T	12.37:g.5021390C>T						KCNA1_ENST00000543874.2_Intron	p.G282G	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1953	+			282					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.846C>T	CCDS8535.1																																																																																				0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		54	94	0	0	0	1	0	54	94					T	5021390	C	T	5021390	2	4	311	1	0	0	0	0	0	0	0	1	8001	755	27	1		1	KCNA1	12	5021390	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4346935	5021390	128830505	392	31466											
CLSTN3	9746	broad.mit.edu	37	chr12	7310123	7310123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcatcattgtggtgtgcGtgggcttcctggtgctcatg	13	11	3	0	rs138735435	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	ENST00000266546.6	+	17	3016	c.2566G>A	c.(2566-2568)Gtg>Atg	p.V856M	CLSTN3_ENST00000537408.1_Missense_Mutation_p.V868M|CLSTN3_ENST00000331148.5_3'UTR	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	856					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		-128	0.0		0.002	False		,,,				2504	0.0					ENST00000537408.1																			1	Substitution - Missense(1)	p.V856M(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2602-2604)Gtg>Atg		calsyntenin 3		G	MET/VAL	0,4406		0,0,2203	68	56	60		2566	4.7	1	12	dbSNP_134	60	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CLSTN3	NM_014718.3	21	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	856/957	7310123	5,13001	2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7310123G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2566G>A	12.37:g.7310123G>A	ENSP00000266546:p.Val856Met					CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.V856M	p.V868M			Q9BQT9	CSTN3_HUMAN			16	3140	+			856					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2602G>A	CCDS8575.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.02	3.529693	0.64860	0.0	5.81E-4	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.36520	1.25;1.25	4.72	4.72	0.59763	.	0.076637	0.52532	D	0.000072	T	0.56673	0.2001	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.80764	0.994;0.739;0.981	T	0.58719	-0.7587	10	0.66056	D	0.02	-29.9301	11.693	0.51527	0.0816:0.0:0.9184:0.0	.	198;868;856	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	M	856;868	ENSP00000266546:V856M;ENSP00000440679:V868M	ENSP00000266546:V856M	V	+	1	0	CLSTN3	7201390	1.000000	0.71417	0.992000	0.48379	0.337000	0.28794	7.805000	0.86005	2.619000	0.88677	0.462000	0.41574	GTG		0.667	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		32	43	0	0	0	1	0	32	43					A	7310123	G	A	7310123	3	1	311	1	0	0	0	0	1	0	0	0	3563	1145	40	1	2632	1	CLSTN3	12	7310123	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2288733	7310123	126541772	393	31467											
KLRC2	3822	broad.mit.edu	37	chr12	10584712	10584712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaacttacttatgttTgaaagccaaaccatttattg	5	7	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	ENST00000381902.2	-	5	583	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E|KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|NKG2-E_ENST00000539033.1_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	193	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313																																						ENST00000381902.2																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(577-579)Aaa>Gaa		killer cell lectin-like receptor subfamily C, member 2							56	54	55					12																	10584712		2050	4147	6197	SO:0001583	missense	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10584712T>C	X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"Killer cell lectin-like receptors", "CD molecules"	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.577A>G	12.37:g.10584712T>C	ENSP00000371327:p.Lys193Glu					NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E	p.K193E	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN			5	583	-			193			C-type lectin.		O43802|Q52M74|Q9NR42	Missense_Mutation	SNP	ENST00000381902.2	37	c.577A>G	CCDS31745.1	.	.	.	.	.	.	.	.	.	.	t	12.13	1.847075	0.32606	.	.	ENSG00000205809	ENST00000381902;ENST00000381901;ENST00000396433;ENST00000536833	T;T;T	0.07688	3.17;3.17;3.17	1.87	0.621	0.17643	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40222	N	0.001148	T	0.19208	0.0461	M	0.88842	2.985	0.09310	N	1	P;P	0.41450	0.651;0.75	P;P	0.50570	0.526;0.644	T	0.07009	-1.0795	10	0.87932	D	0	.	3.9089	0.09194	0.3253:0.0:0.0:0.6747	.	179;193	Q3KQS7;P26717	.;NKG2C_HUMAN	E	193;193;86;134	ENSP00000371327:K193E;ENSP00000371326:K193E;ENSP00000444754:K134E	ENSP00000371326:K193E	K	-	1	0	KLRC2	10475979	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.376000	0.20535	0.160000	0.19432	0.397000	0.26171	AAA		0.313	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1	NM_002260		12	51	0	0	0	1	0	12	51					C	10584712	T	C	10584712	3	2	311	1	0	0	0	0	1	0	0	0	8416	1821	63	3	126	3	KLRC2	12	10584712	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	3274589	10584712	123267183	394	31468											
LRP6	4040	broad.mit.edu	37	chr12	12302045	12302045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggtcatagggttgtatttCcaggttctgactcggaactg	13	7	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	ENST00000261349.4	-	14	3113	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1013	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3037-3039)Gaa>Aaa		low density lipoprotein receptor-related protein 6							204	203	203					12																	12302045		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12302045C>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3037G>A	12.37:g.12302045C>T	ENSP00000261349:p.Glu1013Lys					LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3113	-		Prostate(47;0.0865)	1013			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3037G>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001712	0.74932	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91180	-2.8;-2.8	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);	0.088817	0.45867	U	0.000324	D	0.84379	0.5459	N	0.20986	0.625	0.49299	D	0.999777	B;B	0.14805	0.008;0.011	B;B	0.09377	0.003;0.004	T	0.78981	-0.1989	10	0.09084	T	0.74	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	1013;1013	F5H7J9;O75581	.;LRP6_HUMAN	K	1013	ENSP00000261349:E1013K;ENSP00000442472:E1013K	ENSP00000261349:E1013K	E	-	1	0	LRP6	12193312	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.580000	0.67464	2.804000	0.96469	0.650000	0.86243	GAA		0.438	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			147	216	0	0	0	1	0	147	216					T	12302045	C	T	12302045	3	4	311	1	0	0	0	0	1	0	0	0	8962	864	30	2	1844	2	LRP6	12	12302045	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1717333	12302045	121549850	395	31469											
C12orf11	55726	broad.mit.edu	37	chr12	27069110	27069110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttccaataaaacagaaCgacctgtcaaaaacaagatt	6	8	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:27069110C>T	ENST00000261191.7	-	11	1609	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ASUN_ENST00000539625.1_Missense_Mutation_p.R257H	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	358					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)											TAAAACAGAACGACCTGTCAA	0.338																																						ENST00000261191.7																			0											c.(1072-1074)cGt>cAt		asunder spermatogenesis regulator							66	56	59					12																	27069110		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27069110C>T	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.1073G>A	12.37:g.27069110C>T	ENSP00000261191:p.Arg358His					ASUN_ENST00000539625.1_Missense_Mutation_p.R257H	p.R358H	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			11	1609	-			358					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1073G>A	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.415490|5.415490	0.96092|0.96092	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625|ENST00000335745	T;T;T|.	0.65732|.	-0.17;-0.17;-0.17|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.82268|0.82268	0.5000|0.5000	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.82938|0.82938	-0.0209|-0.0209	10|6	0.87932|0.87932	D|D	0|0	-19.7923|-19.7923	20.5471|20.5471	0.99284|0.99284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	358|.	Q9NVM9|.	M89BB_HUMAN|.	H|I	62;358;257|3	ENSP00000445645:R62H;ENSP00000261191:R358H;ENSP00000443724:R257H|.	ENSP00000261191:R358H|ENSP00000336713:V3I	R|V	-|-	2|1	0|0	C12orf11|C12orf11	26960377|26960377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.758000|7.758000	0.85224|0.85224	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.338	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		16	39	0	0	0	1	0	16	39					T	27069110	C	T	27069110	3	4	311	1	0	0	0	0	1	0	0	0	1675	536	19	1	1075	1	C12orf11	12	27069110	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	14767065	27069110	106782785	396	31470											
CACNB3	784	broad.mit.edu	37	chr12	49221502	49221504	+	In_Frame_Del	DEL	GGA	GGA	-													cagcgtagctcccgccacctGgaggaggactatgcagatgc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	ENST00000301050.2	+	13	1474_1476	c.1275_1277delGGA	c.(1273-1278)ctggag>ctg	p.E427del	CACNB3_ENST00000547392.1_In_Frame_Del_p.E400del|CACNB3_ENST00000536187.2_In_Frame_Del_p.E426del|CACNB3_ENST00000547230.1_In_Frame_Del_p.E386del|CACNB3_ENST00000540990.1_In_Frame_Del_p.E414del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	427					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(1273-1278)ctg>ct		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)																																			SO:0001651	inframe_deletion	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221502_49221504delGGA		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1275_1277delGGA	12.37:g.49221508_49221510delGGA	ENSP00000301050:p.Glu427del					CACNB3_ENST00000547392.1_In_Frame_Del_p.LE398del|CACNB3_ENST00000547230.1_In_Frame_Del_p.LE384del|CACNB3_ENST00000540990.1_In_Frame_Del_p.LE412del|CACNB3_ENST00000536187.2_In_Frame_Del_p.LE424del	p.LE425del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN			13	1474_1476	+			425					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	In_Frame_Del	DEL	ENST00000301050.2	37	c.1275_1277delGGA	CCDS8769.1																																																																																				0.631	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			33	148						33	148	---	---	---	---	-	49221504	GGA	-	49221502	7	5	311	1	0	1	0	1	0	0	0	0	2554	1335	47	0	1325	0	CACNB3	12	49221502	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	22152392	49221502	84630393	397	31471											
DDN	23109	broad.mit.edu	37	chr12	49392947	49392947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgactataatgacaggAaatagtcttcacttctatca	8	9	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	ENST00000421952.2	-	1	145	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	42						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(124-126)Tcc>Ccc		dendrin							45	49	47					12																	49392947		2203	4300	6503	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392947A>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.124T>C	12.37:g.49392947A>G	ENSP00000390590:p.Ser42Pro					RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	p.S42P	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			1	145	-			42						Missense_Mutation	SNP	ENST00000421952.2	37	c.124T>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	A	16.45	3.127807	0.56721	.	.	ENSG00000181418	ENST00000421952	T	0.58940	0.3	3.66	3.66	0.41972	.	.	.	.	.	T	0.59797	0.2220	N	0.19112	0.55	0.30540	N	0.766551	D	0.76494	0.999	D	0.80764	0.994	T	0.58934	-0.7548	9	0.87932	D	0	.	9.2419	0.37502	1.0:0.0:0.0:0.0	.	42	O94850	DEND_HUMAN	P	42	ENSP00000390590:S42P	ENSP00000390590:S42P	S	-	1	0	DDN	47679214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.694000	0.37752	1.604000	0.50143	0.379000	0.24179	TCC		0.607	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			27	44	0	0	0	1	0	27	44					G	49392947	A	G	49392947	3	3	311	1	0	0	0	0	1	0	0	0	4333	246	9	3	2019	3	DDN	12	49392947	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	171445	49392947	84458948	398	31472											
MLL2	8085	broad.mit.edu	37	chr12	49422916	49422916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctcccaccggcctgAgcccagatgagggaaacgag	12	14	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49422916A>G	ENST00000301067.7	-	44	14178	c.14179T>C	c.(14179-14181)Tca>Cca	p.S4727P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4727					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)										CACCGGCCTGAGCCCAGATGA	0.617																																						ENST00000301067.7																			0											c.(14179-14181)Tca>Cca		lysine (K)-specific methyltransferase 2D							45	51	49					12																	49422916		1969	4113	6082	SO:0001583	missense	8085							g.chr12:49422916A>G	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.14179T>C	12.37:g.49422916A>G	ENSP00000301067:p.Ser4727Pro						p.S4727P	NM_003482.3	NP_003473.3					44	14178	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14179T>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293680	0.40594	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	4.91	3.67	0.42095	.	0.000000	0.32314	N	0.006264	T	0.51941	0.1704	N	0.08118	0	0.28029	N	0.934207	P	0.45126	0.851	B	0.36289	0.221	T	0.55679	-0.8103	10	0.87932	D	0	.	5.7495	0.18138	0.5639:0.2862:0.0:0.1499	.	4727	O14686	MLL2_HUMAN	P	4727	ENSP00000301067:S4727P	ENSP00000301067:S4727P	S	-	1	0	MLL2	47709183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.410000	0.59774	1.986000	0.57962	0.455000	0.32223	TCA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	59	0	0	0	1	0	12	59					G	49422916	A	G	49422916	3	3	311	1	0	0	0	0	1	0	0	0	9621	304	11	3	2478	3	MLL2	12	49422916	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	29969	49422916	84428979	399	31473											
MLL2	8085	broad.mit.edu	37	chr12	49445202	49445202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtgtggctcctcaggcCggggggacaggtgcggctcc	18	11	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445202C>T	ENST00000301067.7	-	10	2263	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	755	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										CTCCTCAGGCCGGGGGGACAG	0.687																																						ENST00000301067.7																			0											c.(2263-2265)cGg>cAg		lysine (K)-specific methyltransferase 2D							20	23	22					12																	49445202		1721	3769	5490	SO:0001583	missense	8085							g.chr12:49445202C>T	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.2264G>A	12.37:g.49445202C>T	ENSP00000301067:p.Arg755Gln						p.R755Q	NM_003482.3	NP_003473.3					10	2263	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2264G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498285	0.26861	.	.	ENSG00000167548	ENST00000301067	T	0.33216	1.42	3.14	-6.28	0.02020	.	.	.	.	.	T	0.08802	0.0218	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28870	-1.0030	9	0.87932	D	0	.	1.4228	0.02316	0.3089:0.3696:0.1683:0.1531	.	755	O14686	MLL2_HUMAN	Q	755	ENSP00000301067:R755Q	ENSP00000301067:R755Q	R	-	2	0	MLL2	47731469	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-4.403000	0.00239	-2.754000	0.00373	-0.440000	0.05779	CGG		0.687	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			42	73	0	0	0	1	0	42	73					T	49445202	C	T	49445202	3	4	311	1	0	0	0	0	1	0	0	0	9621	652	23	1	14529	1	MLL2	12	49445202	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	22286	49445202	84406693	400	31474											
MLL2	8085	broad.mit.edu	37	chr12	49445921	49445921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacaagggcgactcctcCagtggagaaaaaggtgatga	15	7	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445921C>T	ENST00000301067.7	-	10	1544	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	515	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|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)										GCGACTCCTCCAGTGGAGAAA	0.617																																						ENST00000301067.7																			0											c.(1543-1545)ctG>ctA		lysine (K)-specific methyltransferase 2D							45	51	49					12																	49445921		2043	4188	6231	SO:0001819	synonymous_variant	8085							g.chr12:49445921C>T	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.1545G>A	12.37:g.49445921C>T							p.L515L	NM_003482.3	NP_003473.3					10	1544	-								O14687	Silent	SNP	ENST00000301067.7	37	c.1545G>A	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			38	67	0	0	0	1	0	38	67					T	49445921	C	T	49445921	2	4	311	1	0	0	0	0	0	0	0	1	9621	581	21	2		2	MLL2	12	49445921	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	719	49445921	84405974	401	31475											
KRT83	3889	broad.mit.edu	37	chr12	52713013	52713013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccactgtcagcctccaCgcactcggcctcccgccgca	7	23	1	0	rs181439241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	ENST00000293670.3	-	2	582	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		15494	0.001		0.0	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(520-522)Gtg>Atg		keratin 83							94	103	100					12																	52713013		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52713013C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.520G>A	12.37:g.52713013C>T	ENSP00000293670:p.Val174Met						p.V174M	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	582	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		174			Coil 1B.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.520G>A	CCDS8823.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.79	2.936273	0.52972	.	.	ENSG00000170523	ENST00000293670	T	0.75367	-0.93	4.81	4.81	0.61882	Filament (1);	0.000000	0.38492	U	0.001663	T	0.72423	0.3458	L	0.58583	1.82	0.36156	D	0.847766	B	0.29232	0.238	B	0.38264	0.269	T	0.77981	-0.2383	10	0.72032	D	0.01	.	8.3118	0.32075	0.2607:0.5274:0.2119:0.0	.	174	P78385	KRT83_HUMAN	M	174	ENSP00000293670:V174M	ENSP00000293670:V174M	V	-	1	0	KRT83	50999280	0.953000	0.32496	0.997000	0.53966	0.921000	0.55340	1.933000	0.40153	2.378000	0.81104	0.563000	0.77884	GTG		0.612	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		81	169	0	0	0	1	0	81	169					T	52713013	C	T	52713013	3	4	311	1	0	0	0	0	1	0	0	0	8497	536	19	1	993	1	KRT83	12	52713013	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3267092	52713013	81138882	402	31476											
ITGA7	3679	broad.mit.edu	37	chr12	56094110	56094110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctctccccccgcctcGtagggaccgtcgtccaggtg	10	18	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	ENST00000555728.1	-	5	766	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_ENST00000553804.1_Silent_p.Y246Y|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257880.7_Silent_p.Y246Y|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000257879.6_Intron			Q13683	ITA7_HUMAN	integrin, alpha 7	246					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(736-738)taC>taT		integrin, alpha 7							40	39	39					12																	56094110		1568	3582	5150	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094110G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.738C>T	12.37:g.56094110G>A						ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000553804.1_Silent_p.Y246Y|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000555728.1_Silent_p.Y246Y	p.Y246Y			Q13683	ITA7_HUMAN			5	957	-			246					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.738C>T																																																																																					0.662	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		24	54	0	0	0	1	0	24	54					A	56094110	G	A	56094110	2	1	311	1	0	0	0	0	0	0	0	1	7881	1140	40	1		1	ITGA7	12	56094110	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3381097	56094110	77757785	403	31477											
SMARCC2	6601	broad.mit.edu	37	chr12	56568511	56568511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcttgggggttcagtcGgtaagtgtcaatcataaagt	11	6	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	ENST00000267064.4	-	16	1506	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.R474*	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				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)			GGGTTCAGTCGGTAAGTGTCA	0.468																																						ENST00000394023.3																			0				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						c.(1420-1422)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							120	122	122					12																	56568511		2203	4300	6503	SO:0001587	stop_gained	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56568511G>A	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.1420C>T	12.37:g.56568511G>A	ENSP00000267064:p.Arg474*					SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA	p.R474*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		16	1525	-			474			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	ENST00000267064.4	37	c.1420C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	37	6.369761	0.97511	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.15	3.24	0.37175	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9239	10.9948	0.47569	0.0:0.0:0.6435:0.3565	.	.	.	.	X	474	.	ENSP00000267064:R474X	R	-	1	2	SMARCC2	54854778	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.618000	0.54188	1.303000	0.44873	0.563000	0.77884	CGA		0.468	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			30	166	0	0	0	1	0	30	166					A	56568511	G	A	56568511	4	1	311	1	0	0	0	0	0	1	0	0	14776	1124	39	1	2373	1	SMARCC2	12	56568511	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	474401	56568511	77283384	404	31478											
TIMELESS	8914	broad.mit.edu	37	chr12	56815752	56815752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgatctgcttgcgtgttCgaggaacagtattcaggtgg	15	6	2	1	rs370232505		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	ENST00000553532.1	-	21	2723	c.2573G>A	c.(2572-2574)cGa>cAa	p.R858Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R857Q					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						CTTGCGTGTTCGAGGAACAGT	0.547																																						ENST00000229201.4																			0				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						c.(2569-2571)cGa>cAa		timeless circadian clock		C	GLN/ARG	0,4406		0,0,2203	139	123	128		2573	5.2	0.5	12		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIMELESS	NM_003920.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	858/1209	56815752	1,13005	2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815752C>T	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.2573G>A	12.37:g.56815752C>T	ENSP00000450607:p.Arg858Gln					TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R858Q	p.R857Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			21	2724	-			858						Missense_Mutation	SNP	ENST00000553532.1	37	c.2570G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316353	0.97467	0.0	1.16E-4	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13901	2.55;2.55;2.55	5.19	5.19	0.71726	Timeless C-terminal (1);	0.060686	0.64402	D	0.000003	T	0.38825	0.1055	M	0.80183	2.485	0.38684	D	0.952617	D	0.69078	0.997	P	0.62560	0.904	T	0.40831	-0.9542	10	0.66056	D	0.02	-11.5445	17.8454	0.88729	0.0:1.0:0.0:0.0	.	858	Q9UNS1	TIM_HUMAN	Q	857;858;355	ENSP00000229201:R857Q;ENSP00000450607:R858Q;ENSP00000450848:R355Q	ENSP00000229201:R858Q	R	-	2	0	TIMELESS	55102019	0.999000	0.42202	0.461000	0.27105	0.537000	0.34900	4.678000	0.61641	2.595000	0.87683	0.555000	0.69702	CGA		0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		91	110	0	0	0	1	0	91	110					T	56815752	C	T	56815752	3	4	311	1	0	0	0	0	1	0	0	0	15901	884	31	1	1089	1	TIMELESS	12	56815752	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	247241	56815752	77036143	405	31479											
MARCH9	92979	broad.mit.edu	37	chr12	58152527	58152527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccccacctctggggccacGagccgccccccagctgccca	11	22	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	ENST00000266643.5	+	4	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_ENST00000548358.1_Silent_p.T183T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	296					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)			CTGGGGCCACGAGCCGCCCCC	0.652																																						ENST00000266643.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(1)	4						c.(886-888)acG>acA		membrane-associated ring finger (C3HC4) 9							19	20	20					12																	58152527		2201	4296	6497	SO:0001819	synonymous_variant	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152527G>A	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.888G>A	12.37:g.58152527G>A						MARCH9_ENST00000548358.1_Silent_p.T183T	p.T296T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	1319	+	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)		296					B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	c.888G>A	CCDS31847.1																																																																																				0.652	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396		10	26	0	0	0	1	0	10	26					A	58152527	G	A	58152527	2	1	311	1	0	0	0	0	0	0	0	1	9308	1045	37	1		1	MARCH9	12	58152527	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1336775	58152527	75699368	406	31480											
USP15	9958	broad.mit.edu	37	chr12	62715345	62715345	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacacatttgaaccactgaaTaaaccagacagcaccattca	4	12	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	ENST00000280377.5	+	5	634	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_ENST00000353364.3_Silent_p.N192N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Silent_p.N192N|USP15_ENST00000393654.3_Silent_p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					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)		AACCACTGAATAAACCAGACA	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(574-576)aaT>aaC		ubiquitin specific peptidase 15							79	80	80					12																	62715345		2203	4299	6502	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62715345T>C	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.576T>C	12.37:g.62715345T>C						USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Silent_p.N192N|USP15_ENST00000393654.3_Silent_p.N192N|USP15_ENST00000312635.6_Silent_p.N192N	p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	5	634	+			192					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.576T>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	T	9.720	1.159419	0.21454	.	.	ENSG00000135655	ENST00000549237	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.71617	0.3361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71163	-0.4673	4	.	.	.	-21.3838	15.4568	0.75321	0.0:0.0:0.0:1.0	.	.	.	.	T	188	.	.	I	+	2	0	USP15	61001612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.533000	0.60615	2.056000	0.61249	0.528000	0.53228	ATA		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		24	33	0	0	0	1	0	24	33					C	62715345	T	C	62715345	2	2	311	1	0	0	0	0	0	0	0	1	17043	1403	49	3		3	USP15	12	62715345	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	4562818	62715345	71136550	407	31481											
XPOT	11260	broad.mit.edu	37	chr12	64811871	64811871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagctaattagggagacGctcatatcatggctgcaagc	10	10	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	ENST00000332707.5	+	5	775	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(244-246)acG>acA		exportin, tRNA							85	85	85					12																	64811871		2203	4299	6502	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64811871G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.246G>A	12.37:g.64811871G>A							p.T82T	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	5	775	+			82			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.246G>A	CCDS31852.1																																																																																				0.323	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		32	71	0	0	0	1	0	32	71					A	64811871	G	A	64811871	2	1	311	1	0	0	0	0	0	0	0	1	17447	1074	38	1		1	XPOT	12	64811871	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2096526	64811871	69040024	408	31482											
LEMD3	23592	broad.mit.edu	37	chr12	65637238	65637238	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagattcggaatatgttTgatcccgttatgtaagtatt	8	5	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	ENST00000308330.2	+	10	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2374-2376)ttT>ttC		LEM domain containing 3							130	129	129					12																	65637238		2202	4299	6501	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65637238T>C	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2376T>C	12.37:g.65637238T>C							p.F792F	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	10	2402	+			792			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.2376T>C	CCDS8972.1																																																																																				0.318	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			41	62	0	0	0	1	0	41	62					C	65637238	T	C	65637238	2	2	311	1	0	0	0	0	0	0	0	1	8721	1809	63	3		3	LEMD3	12	65637238	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	825367	65637238	68214657	409	31483											
BEST3	144453	broad.mit.edu	37	chr12	70048984	70048984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatatattttcctcagcGctggctgaaactgtctgggg	11	8	2	2	rs376220817		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1708-1710)agC>agT		bestrophin 3		G	,	1,3703		0,1,1851	42	42	42		1710,1071	-7.7	0	12		42	0,8188		0,0,4094	no	coding-synonymous,coding-synonymous	BEST3	NM_032735.2,NM_152439.2	,	0,1,5945	AA,AG,GG		0.0,0.027,0.0084	,	570/669,357/456	70048984	1,11891	1852	4094	5946	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048984G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1710C>T	12.37:g.70048984G>A						BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Silent_p.S357S	p.S570S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1936	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		570					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.1710C>T	CCDS8992.2																																																																																				0.557	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		22	77	0	0	0	1	0	22	77					A	70048984	G	A	70048984	2	1	311	1	0	0	0	0	0	0	0	1	1406	1078	38	1		1	BEST3	12	70048984	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4411746	70048984	63802911	410	31484											
C12orf12	196477	broad.mit.edu	37	chr12	91348005	91348005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactcatacagcttgaccGgccgcggcagcgtgctcaca	10	16	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:91348005G>A	ENST00000358859.2	-	1	948	c.515C>T	c.(514-516)cCg>cTg	p.P172L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	172																	CAGCTTGACCGGCCGCGGCAG	0.667																																						ENST00000358859.2																			0											c.(514-516)cCg>cTg		coiled-coil glutamate-rich protein 1							38	41	40					12																	91348005		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91348005G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.515C>T	12.37:g.91348005G>A	ENSP00000351727:p.Pro172Leu					CCER1_ENST00000548187.1_Intron	p.P172L	NM_152638.2	NP_689851.1					1	948	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.515C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005641	0.54254	.	.	ENSG00000197651	ENST00000358859	T	0.59638	0.25	4.52	4.52	0.55395	.	0.000000	0.34200	N	0.004177	T	0.66519	0.2797	L	0.32530	0.975	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	T	0.70583	-0.4832	10	0.87932	D	0	-15.187	15.2108	0.73222	0.0:0.0:1.0:0.0	.	172	Q8TC90	CL012_HUMAN	L	172	ENSP00000351727:P172L	ENSP00000351727:P172L	P	-	2	0	C12orf12	89872136	1.000000	0.71417	0.894000	0.35097	0.039000	0.13416	5.389000	0.66255	2.329000	0.79093	0.462000	0.41574	CCG		0.667	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		37	79	0	0	0	1	0	37	79					A	91348005	G	A	91348005	3	1	311	1	0	0	0	0	1	0	0	0	1676	1116	39	1	709	1	C12orf12	12	91348005	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	21299021	91348005	42503890	411	31485											
CCDC41	51134	broad.mit.edu	37	chr12	94769688	94769688	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaatgtatttatttctcGttcagctttatgcaatttat	6	6	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	ENST00000397809.5	-	8	1456	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		295					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(907-909)Cga>Tga		coiled-coil domain containing 41							75	71	72					12																	94769688		1797	4059	5856	SO:0001587	stop_gained	51134							g.chr12:94769688G>A																												ENST00000397809.5:c.907C>T	12.37:g.94769688G>A	ENSP00000380911:p.Arg303*					CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*	p.R303*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			8	1456	-			295					A4FVB1|Q08AP1	Nonsense_Mutation	SNP	ENST00000397809.5	37	c.907C>T	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	38	6.793574	0.97841	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	.	.	.	5.42	-0.268	0.12934	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1391	11.8913	0.52630	0.0:0.1109:0.3191:0.5699	.	.	.	.	X	303;303;270;303	.	ENSP00000344655:R303X	R	-	1	2	CCDC41	93293819	0.998000	0.40836	0.994000	0.49952	0.153000	0.21895	0.569000	0.23638	-0.033000	0.13736	-0.538000	0.04264	CGA		0.259	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	18	0	0	0	1	0	5	18					A	94769688	G	A	94769688	4	1	311	1	0	0	0	0	0	1	0	0	2813	1153	40	1	1238	1	CCDC41	12	94769688	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3421683	94769688	39082207	412	31486											
NT5DC3	51559	broad.mit.edu	37	chr12	104208744	104208744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatgagaaggtcccgtgCagcattaaatatcagcgtgt	11	7	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	ENST00000392876.3	-	2	404	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	122						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(364-366)Gca>Aca		5'-nucleotidase domain containing 3							170	159	162					12																	104208744		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104208744C>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.364G>A	12.37:g.104208744C>T	ENSP00000376615:p.Ala122Thr						p.A122T	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			2	404	-			122					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.364G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253163	0.95336	.	.	ENSG00000111696	ENST00000392876	T	0.22134	1.97	5.87	4.99	0.66335	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35549	-0.9784	10	0.41790	T	0.15	-20.737	15.6177	0.76780	0.0:0.934:0.0:0.066	.	122	Q86UY8	NT5D3_HUMAN	T	122	ENSP00000376615:A122T	ENSP00000376615:A122T	A	-	1	0	NT5DC3	102732874	1.000000	0.71417	0.838000	0.33150	0.961000	0.63080	7.419000	0.80179	1.631000	0.50456	0.655000	0.94253	GCA		0.448	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		74	121	0	0	0	1	0	74	121					T	104208744	C	T	104208744	3	4	311	1	0	0	0	0	1	0	0	0	10692	710	25	2	1334	2	NT5DC3	12	104208744	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9439056	104208744	29643151	413	31487											
TDG	6996	broad.mit.edu	37	chr12	104376688	104376688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatggtggaaaggaccaCgcccggcagcaaagatctct	11	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	ENST00000392872.3	+	5	824	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000266775.9_Missense_Mutation_p.T193M|TDG_ENST00000544861.1_Missense_Mutation_p.T54M|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(589-591)aCg>aTg	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							100	94	96					12																	104376688		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104376688C>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.590C>T	12.37:g.104376688C>T	ENSP00000376611:p.Thr197Met					TDG_ENST00000544861.1_Missense_Mutation_p.T54M|TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000266775.9_Missense_Mutation_p.T193M	p.T197M	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	5	824	+			197					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.590C>T	CCDS9095.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.720127|4.720127	0.89205|0.89205	.|.	.|.	ENSG00000139372|ENSG00000139372	ENST00000542036|ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100	T|T;T;T;T	0.28069|0.48522	1.63|0.81;0.81;0.81;0.81	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Uracil-DNA glycosylase-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D|D;D	0.89917|0.76494	1.0|0.999;0.999	D|P;D	0.65773|0.63113	0.938|0.88;0.911	T|T	0.78170|0.78170	-0.2308|-0.2308	9|10	0.87932|0.87932	D|D	0|0	-14.7677|-14.7677	19.1762|19.1762	0.93603|0.93603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	21|197;197	B4DI29|B2R848;Q13569	.|.;TDG_HUMAN	C|M	21|197;193;54;190	ENSP00000439054:R21C|ENSP00000376611:T197M;ENSP00000266775:T193M;ENSP00000445899:T54M;ENSP00000439825:T190M	ENSP00000439054:R21C|ENSP00000266775:T193M	R|T	+|+	1|2	0|0	TDG|TDG	102900818|102900818	1.000000|1.000000	0.71417|0.71417	0.620000|0.620000	0.29132|0.29132	0.621000|0.621000	0.37620|0.37620	7.762000|7.762000	0.85270|0.85270	2.518000|2.518000	0.84900|0.84900	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.463	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			63	118	0	0	0	1	0	63	118					T	104376688	C	T	104376688	3	4	311	1	0	0	0	0	1	0	0	0	15722	536	19	1	608	1	TDG	12	104376688	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	167944	104376688	29475207	414	31488											
KCTD10	83892	broad.mit.edu	37	chr12	109889453	109889453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgtggatcctccgcaCgcgctcgatccgctcccgct	10	17	0	1	rs369957720		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	ENST00000228495.6	-	7	1170	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	297					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						ATCCTCCGCACGCGCTCGATC	0.716																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(889-891)Gtg>Atg		potassium channel tetramerization domain containing 10		C	MET/VAL	0,4406		0,0,2203	53	48	49		889	5	1	12		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCTD10	NM_031954.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	297/314	109889453	1,13005	2203	4300	6503	SO:0001583	missense	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109889453C>T	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.889G>A	12.37:g.109889453C>T	ENSP00000228495:p.Val297Met					KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M	p.V297M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN			7	1170	-			297					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	ENST00000228495.6	37	c.889G>A	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768114	0.90020	0.0	1.16E-4	ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402	T;T	0.52295	0.71;0.67	4.97	4.97	0.65823	.	0.122763	0.53938	D	0.000047	T	0.70413	0.3221	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.73717	-0.3895	10	0.72032	D	0.01	-27.3041	17.765	0.88475	0.0:1.0:0.0:0.0	.	271;274;297	F5GWA4;Q9H3F6-2;Q9H3F6	.;.;BACD3_HUMAN	M	297;116;139;116;271;116;116;116	ENSP00000228495:V297M;ENSP00000441672:V271M	ENSP00000228495:V297M	V	-	1	0	KCTD10	108373836	1.000000	0.71417	0.974000	0.42286	0.812000	0.45895	7.724000	0.84798	2.757000	0.94681	0.655000	0.94253	GTG		0.716	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		46	80	0	0	0	1	0	46	80					T	109889453	C	T	109889453	3	4	311	1	0	0	0	0	1	0	0	0	8097	536	19	1	56	1	KCTD10	12	109889453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5512765	109889453	23962442	415	31489											
OAS1	4938	broad.mit.edu	37	chr12	113354493	113354494	+	Frame_Shift_Ins	INS	-	-	A													ggacaaagtattatgactttINSaaaaaccccattattgaaaa					rs372813548		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	ENST00000202917.5	+	4	1097_1098	c.834_835insA	c.(835-837)aaafs	p.K279fs	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.K279fs|OAS1_ENST00000551241.1_Frame_Shift_Ins_p.K279fs|OAS1_ENST00000452357.2_Frame_Shift_Ins_p.K279fs	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	279					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431																																						ENST00000452357.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						c.(832-837)ttaaaafs		2'-5'-oligoadenylate synthetase 1, 40/46kDa																																				SO:0001589	frameshift_variant	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113354493_113354494insA	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.839dupA	12.37:g.113354498_113354498dupA	ENSP00000202917:p.Lys279fs					OAS1_ENST00000551241.1_Frame_Shift_Ins_p.LK278fs|OAS1_ENST00000202917.5_Frame_Shift_Ins_p.LK278fs|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.LK278fs|RP1-71H24.1_ENST00000552784.1_RNA	p.LK278fs	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN			4	1024_1025	+			278					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Frame_Shift_Ins	INS	ENST00000202917.5	37	c.834_835insA	CCDS41838.1																																																																																				0.431	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			78	124						78	124	---	---	---	---	A	113354494	-	A	113354493	7	5	311	1	0	1	1	0	0	0	0	0	10799	1751	61	0	848	0	OAS1	12	113354493	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	3465040	113354493	20497402	416	31490											
CIT	11113	broad.mit.edu	37	chr12	120128190	120128190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctggggccttcgggcggCgctgggctggaggccacgcg	21	12	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	ENST00000261833.7	-	46	5878	c.5826G>A	c.(5824-5826)gcG>gcA	p.A1942A	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.A1984A	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1942					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)		CTTCGGGCGGCGCTGGGCTGG	0.706																																						ENST00000392521.2																			0				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						c.(5950-5952)gcG>gcA		citron (rho-interacting, serine/threonine kinase 21)							16	17	16					12																	120128190		2197	4287	6484	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120128190C>T	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.5826G>A	12.37:g.120128190C>T						CIT_ENST00000261833.7_Silent_p.A1942A|CIT_ENST00000537607.1_5'UTR	p.A1984A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	47	6007	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1942					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.5952G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902838	0.17760	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.4	-6.67	0.01783	.	.	.	.	.	T	0.49304	0.1549	.	.	.	0.37064	D	0.898226	.	.	.	.	.	.	T	0.55471	-0.8136	4	.	.	.	.	9.6225	0.39730	0.0:0.351:0.2933:0.3557	.	.	.	.	H	1555	.	.	R	-	2	0	CIT	118612573	0.001000	0.12720	0.128000	0.21923	0.803000	0.45373	-1.637000	0.02015	-0.978000	0.03533	-0.175000	0.13238	CGC		0.706	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		13	22	0	0	0	1	0	13	22					T	120128190	C	T	120128190	2	4	311	1	0	0	0	0	0	0	0	1	3438	755	27	1		1	CIT	12	120128190	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6773697	120128190	13723705	417	31491											
CIT	11113	broad.mit.edu	37	chr12	120189940	120189940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctggctctccagggccGcccgtgcagcctgcagggct	15	15	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	ENST00000261833.7	-	22	2745	c.2693C>T	c.(2692-2694)gCg>gTg	p.A898V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.A940V	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	898					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)		CTCCAGGGCCGCCCGTGCAGC	0.627																																						ENST00000392521.2																			0				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						c.(2818-2820)gCg>gTg		citron (rho-interacting, serine/threonine kinase 21)							45	42	43					12																	120189940		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120189940G>A	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.2693C>T	12.37:g.120189940G>A	ENSP00000261833:p.Ala898Val					CIT_ENST00000261833.7_Missense_Mutation_p.A898V|CIT_ENST00000537607.1_5'UTR	p.A940V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	23	2874	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	898					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2819C>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.76|15.76	2.929402|2.929402	0.52759|0.52759	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.66638|.	-0.15;-0.22|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.391971|.	0.26927|.	N|.	0.021783|.	T|T	0.37461|0.37461	0.1004|0.1004	N|N	0.08118|0.08118	0|0	0.32409|0.32409	N|N	0.550916|0.550916	B;B;B|.	0.22604|.	0.031;0.063;0.072|.	B;B;B|.	0.16722|.	0.006;0.01;0.016|.	T|T	0.40384|0.40384	-0.9566|-0.9566	10|5	0.30078|.	T|.	0.28|.	.|.	19.4232|19.4232	0.94730|0.94730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	940;898;431|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	V|W	940;898|526	ENSP00000376306:A940V;ENSP00000261833:A898V|.	ENSP00000261833:A898V|.	A|R	-|-	2|1	0|2	CIT|CIT	118674323|118674323	0.998000|0.998000	0.40836|0.40836	0.966000|0.966000	0.40874|0.40874	0.937000|0.937000	0.57800|0.57800	4.405000|4.405000	0.59741|0.59741	2.584000|2.584000	0.87258|0.87258	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.627	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		30	58	0	0	0	1	0	30	58					A	120189940	G	A	120189940	3	1	311	1	0	0	0	0	1	0	0	0	3438	1087	38	1	3494	1	CIT	12	120189940	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61750	120189940	13661955	418	31492											
RNF10	9921	broad.mit.edu	37	chr12	121000755	121000755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgttagactcgggAagaggctctgtcgggattgg	16	9	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	ENST00000325954.4	+	8	1597	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	379					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1135-1137)gAa>gGa		ring finger protein 10							142	125	131					12																	121000755		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121000755A>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1136A>G	12.37:g.121000755A>G	ENSP00000322242:p.Glu379Gly					RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			8	1597	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		379					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1136A>G	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.46|16.46	3.129472|3.129472	0.56721|0.56721	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266;ENST00000541955|ENST00000537740	D;D|.	0.90563|.	-2.69;-2.68|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.193924|.	0.53938|.	D|.	0.000049|.	T|T	0.61400|0.61400	0.2344|0.2344	L|L	0.51422|0.51422	1.61|1.61	0.48762|0.48762	D|D	0.999701|0.999701	B;B|.	0.31949|.	0.348;0.124|.	B;B|.	0.36244|.	0.22;0.074|.	T|T	0.59500|0.59500	-0.7443|-0.7443	10|5	0.51188|.	T|.	0.08|.	.|.	11.9251|11.9251	0.52814|0.52814	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	379;379|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	G|E	379;379;109;379;120|57	ENSP00000322242:E379G;ENSP00000415682:E379G|.	ENSP00000322242:E379G|.	E|K	+|+	2|1	0|0	RNF10|RNF10	119485138|119485138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	4.364000|4.364000	0.59479|0.59479	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.547	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			31	66	0	0	0	1	0	31	66					G	121000755	A	G	121000755	3	3	311	1	0	0	0	0	1	0	0	0	13422	246	9	3	1166	3	RNF10	12	121000755	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	810815	121000755	12851140	419	31493											
PITPNM2	57605	broad.mit.edu	37	chr12	123473364	123473364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggaaggccgtgagggcGtcagggcagtacagggcgta	21	7	1	1	rs565639153		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	ENST00000542749.1	-	17	2850	c.2787C>T	c.(2785-2787)gaC>gaT	p.D929D	PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000320201.4_Silent_p.D929D|PITPNM2_ENST00000280562.5_Silent_p.D923D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	929	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.0					ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2767-2769)gaC>gaT		phosphatidylinositol transfer protein, membrane-associated 2							96	67	77					12																	123473364		2198	4298	6496	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123473364G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2787C>T	12.37:g.123473364G>A						PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000542749.1_Silent_p.D929D|PITPNM2_ENST00000320201.4_Silent_p.D929D	p.D923D			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	18	2974	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		860			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2769C>T	CCDS9242.1																																																																																				0.642	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		6	15	0	0	0	1	0	6	15					A	123473364	G	A	123473364	2	1	311	1	0	0	0	0	0	0	0	1	11951	1136	40	1		1	PITPNM2	12	123473364	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2472609	123473364	10378531	420	31494											
PITPNM2	57605	broad.mit.edu	37	chr12	123479976	123479976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctggatggtatccagctCgtaggtggatgagtcgctcc	14	10	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	ENST00000542749.1	-	12	2077	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K|PITPNM2_ENST00000280562.5_Missense_Mutation_p.E672K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	672					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2014-2016)Gag>Aag		phosphatidylinositol transfer protein, membrane-associated 2							71	79	76					12																	123479976		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123479976C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2014G>A	12.37:g.123479976C>T	ENSP00000437611:p.Glu672Lys					PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E672K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K	p.E672K			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	13	2219	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		672					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2014G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496698	0.85069	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.48836	1.16;1.11;0.8;1.11	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.60051	0.2239	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.60789	0.746;0.879	T	0.55811	-0.8082	10	0.16896	T	0.51	-35.8461	17.4891	0.87698	0.0:1.0:0.0:0.0	.	672;672	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	K	672;672;393;672	ENSP00000280562:E672K;ENSP00000322218:E672K;ENSP00000376223:E393K;ENSP00000437611:E672K	ENSP00000280562:E672K	E	-	1	0	PITPNM2	122045929	1.000000	0.71417	0.976000	0.42696	0.446000	0.32137	7.473000	0.81007	2.128000	0.65567	0.561000	0.74099	GAG		0.647	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		27	124	0	0	0	1	0	27	124					T	123479976	C	T	123479976	3	4	311	1	0	0	0	0	1	0	0	0	11951	893	31	1	2087	1	PITPNM2	12	123479976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6612	123479976	10371919	421	31495											
NCOR2	9612	broad.mit.edu	37	chr12	124826571	124826571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagggtgggtacaggtgCgggtaggtggggttgggggc	25	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	ENST00000405201.1	-	34	4986	c.4986G>A	c.(4984-4986)ccG>ccA	p.P1662P	NCOR2_ENST00000429285.2_Silent_p.P1652P|NCOR2_ENST00000356219.3_Silent_p.P1669P|NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000404621.1_Silent_p.P1652P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					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)		GGTACAGGTGCGGGTAGGTGG	0.652																																						ENST00000356219.3																			0				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						c.(5005-5007)ccG>ccA		nuclear receptor corepressor 2							39	48	45					12																	124826571		2068	4192	6260	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124826571C>T	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.4986G>A	12.37:g.124826571C>T						NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000405201.1_Silent_p.P1662P|NCOR2_ENST00000404621.1_Silent_p.P1652P|NCOR2_ENST00000429285.2_Silent_p.P1652P	p.P1669P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		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)	35	5162	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1670					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5007G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530335	0.27387	.	.	ENSG00000196498	ENST00000453428	.	.	.	4.23	-3.6	0.04570	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38520	-0.9657	4	.	.	.	-22.6781	2.6521	0.05002	0.0949:0.2291:0.3258:0.3503	.	.	.	.	T	11	.	.	A	-	1	0	NCOR2	123392524	0.174000	0.23070	0.997000	0.53966	0.997000	0.91878	-0.533000	0.06157	-0.221000	0.09973	0.491000	0.48974	GCA		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		24	55	0	0	0	1	0	24	55					T	124826571	C	T	124826571	2	4	311	1	0	0	0	0	0	0	0	1	10236	755	27	1		1	NCOR2	12	124826571	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1346595	124826571	9025324	422	31496											
DHX37	57647	broad.mit.edu	37	chr12	125434988	125434988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccggtgacacagcaccCgcccccgctcggggcagtat	13	17	0	1	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	ENST00000308736.2	-	23	3190	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16103	0.0		0.001	False		,,,				2504	0.0					ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3091-3093)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	GLN/ARG	3,4397		0,3,2197	24	24	24		3092	4.2	0.5	12	dbSNP_134	24	26,8572		0,26,4273	yes	missense	DHX37	NM_032656.3	43	0,29,6470	TT,TC,CC		0.3024,0.0682,0.2231	benign	1031/1158	125434988	29,12969	2200	4299	6499	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125434988C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3092G>A	12.37:g.125434988C>T	ENSP00000311135:p.Arg1031Gln					DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	p.R1031Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3190	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1031					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3092G>A	CCDS9261.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.18	1.278356	0.23307	6.82E-4	0.003024	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02944	4.15;4.1	5.07	4.17	0.49024	.	0.149951	0.53938	N	0.000059	T	0.03783	0.0107	L	0.43152	1.355	0.42236	D	0.991916	B;B	0.22746	0.069;0.074	B;B	0.17722	0.019;0.005	T	0.44922	-0.9296	10	0.34782	T	0.22	12.7338	13.9079	0.63848	0.0:0.925:0.0:0.075	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	Q	1031;818	ENSP00000311135:R1031Q;ENSP00000439009:R818Q	ENSP00000311135:R1031Q	R	-	2	0	DHX37	124000941	0.999000	0.42202	0.540000	0.28089	0.019000	0.09904	3.957000	0.56730	1.104000	0.41587	0.555000	0.69702	CGG		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		29	32	0	0	0	1	0	29	32					T	125434988	C	T	125434988	3	4	311	1	0	0	0	0	1	0	0	0	4510	652	23	1	401	1	DHX37	12	125434988	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608417	125434988	8416907	423	31497											
TMEM132D	121256	broad.mit.edu	37	chr12	129566505	129566505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggacccgcaccatggcGtgctggtactgcagggtgca	15	12	1	0	rs200675006		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	ENST00000422113.2	-	7	2048	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_ENST00000389441.4_Silent_p.H112H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	574					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)		GCACCATGGCGTGCTGGTACT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		15876	0.0		0.001	False		,,,				2504	0.0					ENST00000422113.2																			0				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						c.(1720-1722)caC>caT		transmembrane protein 132D							47	50	49					12																	129566505		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129566505G>A	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.1722C>T	12.37:g.129566505G>A						TMEM132D_ENST00000389441.4_Silent_p.H112H	p.H574H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2048	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	574					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1722C>T	CCDS9266.1																																																																																				0.657	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		46	79	0	0	0	1	0	46	79					A	129566505	G	A	129566505	2	1	311	1	0	0	0	0	0	0	0	1	16044	1136	40	1		1	TMEM132D	12	129566505	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4131517	129566505	4285390	424	31498											
RIMBP2	23504	broad.mit.edu	37	chr12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttccggggcccacgggcGgctccagcatgtgcccatgc	14	17	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1921-1923)cCg>cTg		RIMS binding protein 2							36	36	36					12																	130921520		2201	4298	6499	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921520G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1922C>T	12.37:g.130921520G>A	ENSP00000261655:p.Pro641Leu					RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	p.P641L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2085	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	641			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1922C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748029	0.30955	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.76;2.76	4.63	4.63	0.57726	.	0.136669	0.49916	D	0.000137	T	0.41673	0.1169	M	0.63843	1.955	0.80722	D	1	B;B;D	0.89917	0.063;0.428;1.0	B;B;D	0.64506	0.008;0.06;0.926	T	0.17167	-1.0378	10	0.29301	T	0.29	-13.3458	17.4987	0.87725	0.0:0.0:1.0:0.0	.	549;549;641	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	L	641;549;549;549	ENSP00000261655:P641L;ENSP00000440347:P549L;ENSP00000439159:P549L	ENSP00000261655:P641L	P	-	2	0	RIMBP2	129487473	1.000000	0.71417	0.910000	0.35882	0.048000	0.14542	5.301000	0.65727	2.121000	0.65114	0.561000	0.74099	CCG		0.711	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		16	16	0	0	0	1	0	16	16					A	130921520	G	A	130921520	3	1	311	1	0	0	0	0	1	0	0	0	13363	1116	39	1	1276	1	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1355015	130921520	2930375	425	31499											
RIMBP2	23504	broad.mit.edu	37	chr12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctgctcgttccccagcGtgcttgccaaccgcgactcg	10	17	0	0	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	ENST00000261655.4	-	8	888	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	242					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(724-726)aCg>aTg		RIMS binding protein 2		G	MET/THR	0,4406		0,0,2203	151	147	148		725	3.5	0	12	dbSNP_134	148	2,8598	2.2+/-6.3	0,2,4298	no	missense	RIMBP2	NM_015347.4	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	242/1053	130927121	2,13004	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130927121G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.725C>T	12.37:g.130927121G>A	ENSP00000261655:p.Thr242Met					RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M	p.T242M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	888	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	242					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.725C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733745	0.30684	0.0	2.33E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.21191	2.02;2.85;2.85	4.42	3.52	0.40303	.	0.611371	0.18094	N	0.151888	T	0.27384	0.0672	M	0.68317	2.08	0.20074	N	0.999935	P;D	0.61080	0.742;0.989	P;P	0.47402	0.467;0.546	T	0.10590	-1.0623	10	0.51188	T	0.08	-11.8359	8.7052	0.34349	0.0846:0.1524:0.763:0.0	.	150;242	O15034-2;O15034	.;RIMB2_HUMAN	M	242;150;150;150	ENSP00000261655:T242M;ENSP00000440347:T150M;ENSP00000439159:T150M	ENSP00000261655:T242M	T	-	2	0	RIMBP2	129493074	0.261000	0.24063	0.008000	0.14137	0.305000	0.27757	1.406000	0.34646	0.835000	0.34877	0.561000	0.74099	ACG		0.592	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		30	118	0	0	0	1	0	30	118					A	130927121	G	A	130927121	3	1	311	1	0	0	0	0	1	0	0	0	13363	1145	40	1	2481	1	RIMBP2	12	130927121	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5601	130927121	2924774	426	31500											
POLE	5426	broad.mit.edu	37	chr12	133214643	133214643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgatggcatcttccacacGgcgcttctttgtacagagga	11	11	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	ENST00000320574.5	-	41	5678	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.R1852C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1879					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTTCCACACGGCGCTTCTTT	0.547								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5635-5637)Cgt>Tgt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							171	138	149					12																	133214643		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133214643G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5635C>T	12.37:g.133214643G>A	ENSP00000322570:p.Arg1879Cys					POLE_ENST00000535270.1_Missense_Mutation_p.R1852C|POLE_ENST00000434528.3_5'UTR	p.R1879C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	41	5678	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1879					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5635C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038116	0.75617	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.23348	1.91;1.91;1.91	5.68	4.78	0.61160	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.163608	0.53938	D	0.000051	T	0.47229	0.1434	M	0.68952	2.095	0.58432	D	0.999997	D;D	0.69078	0.984;0.997	P;P	0.62382	0.773;0.901	T	0.50197	-0.8856	10	0.59425	D	0.04	.	16.0688	0.80909	0.0:0.0:0.8649:0.1351	.	1879;89	Q07864;B3KS74	DPOE1_HUMAN;.	C	89;1879;1890;1852	ENSP00000322570:R1879C;ENSP00000406383:R1890C;ENSP00000445753:R1852C	ENSP00000322570:R1879C	R	-	1	0	POLE	131724716	0.912000	0.30974	0.893000	0.35052	0.729000	0.41735	2.378000	0.44309	1.394000	0.46624	0.655000	0.94253	CGT		0.547	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		21	129	0	0	0	1	0	21	129					A	133214643	G	A	133214643	3	1	311	1	0	0	0	0	1	0	0	0	12196	1116	39	1	1261	1	POLE	12	133214643	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2287522	133214643	637252	427	31501											
POLE	5426	broad.mit.edu	37	chr12	133250239	133250239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcctagcttggccttggcGgccgccttgagattatgact	12	11	0	2	rs371586756		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	ENST00000320574.5	-	13	1324	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_ENST00000535270.1_Silent_p.A400A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	427					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGCCTTGGCGGCCGCCTTGA	0.582								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1279-1281)gcC>gcT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		G		0,4406		0,0,2203	152	142	145		1281	-11.2	0.8	12		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POLE	NM_006231.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		427/2287	133250239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133250239G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1281C>T	12.37:g.133250239G>A						POLE_ENST00000535270.1_Silent_p.A400A	p.A427A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	13	1324	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	427					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.1281C>T	CCDS9278.1																																																																																				0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		124	209	0	0	0	1	0	124	209					A	133250239	G	A	133250239	2	1	311	1	0	0	0	0	0	0	0	1	12196	1103	39	1		1	POLE	12	133250239	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	35596	133250239	601656	428	31502											
POLE	5426	broad.mit.edu	37	chr12	133254167	133254167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctgccccactcaccacGtggatcttcaggtcaatgga	8	15	4	0	rs567612169		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	ENST00000320574.5	-	7	760	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_ENST00000535270.1_Silent_p.H212H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	239					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CACTCACCACGTGGATCTTCA	0.498								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0					ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(715-717)caC>caT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							116	95	102					12																	133254167		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133254167G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.717C>T	12.37:g.133254167G>A						POLE_ENST00000535270.1_Silent_p.H212H	p.H239H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	7	760	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	239					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.717C>T	CCDS9278.1																																																																																				0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		26	57	0	0	0	1	0	26	57					A	133254167	G	A	133254167	2	1	311	1	0	0	0	0	0	0	0	1	12196	1136	40	1		1	POLE	12	133254167	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3928	133254167	597728	429	31503											
CDC16	8881	broad.mit.edu	37	chr13	115016143	115016143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagcagcacagctgaTgaaagggtacggcagagcaa	12	10	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	ENST00000356221.3	+	12	1199	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000360383.3_Missense_Mutation_p.M364T			Q13042	CDC16_HUMAN	cell division cycle 16	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|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 mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1090-1092)aTg>aCg		cell division cycle 16							92	77	82					13																	115016143		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115016143T>C	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1720	protein-coding gene	gene with protein product	"anaphase-promoting complex, subunit 6"	603461	"CDC16 (cell division cycle 16, S. cerevisiae, homolog)", "CDC16 cell division cycle 16 homolog (S. cerevisiae)", "cell division cycle 16 homolog (S. cerevisiae)"			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1091T>C	13.37:g.115016143T>C	ENSP00000348554:p.Met364Thr					CDC16_ENST00000356221.3_Missense_Mutation_p.M364T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T	p.M364T	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		12	1289	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	364					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1091T>C	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161552	0.78226	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T;T;T	0.73469	0.71;-0.75;0.71;0.71;0.71;0.71;-0.75	5.94	4.77	0.60923	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.040488	0.85682	N	0.000000	D	0.84750	0.5541	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.992	D;D;D	0.80764	0.973;0.994;0.931	D	0.84812	0.0791	9	.	.	.	-13.0974	11.8334	0.52309	0.0:0.0678:0.0:0.9322	.	363;363;364	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	T	364;270;364;270;363;270;270	ENSP00000353549:M364T;ENSP00000364461:M270T;ENSP00000348554:M364T;ENSP00000364459:M270T;ENSP00000252457:M363T;ENSP00000364457:M270T;ENSP00000252458:M270T	.	M	+	2	0	CDC16	114034245	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.284000	0.78650	1.087000	0.41251	0.528000	0.53228	ATG		0.428	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		53	17	0	0	0	1	0	53	17					C	115016143	T	C	115016143	3	2	311	1	0	0	0	0	1	0	0	0	3058	1464	51	3	1137	3	CDC16	13	115016143	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08		115016143	153735	430	31504											
TEP1	7011	broad.mit.edu	37	chr14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcagtaactggcaacccGcatgcaggaaaagcgcagca	11	13	1	0	rs553923395		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					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)		CTGGCAACCCGCATGCAGGAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				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						c.(5683-5685)gCg>gTg		telomerase-associated protein 1							82	81	82					14																	20846220		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846220G>A		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.5684C>T	14.37:g.20846220G>A	ENSP00000262715:p.Ala1895Val					TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	p.A1895V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5724	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1895					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.5684C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682249	0.29872	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.51071	0.72;1.6;1.6	5.48	2.64	0.31445	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.670270	0.15490	N	0.259618	T	0.45677	0.1354	L	0.54323	1.7	0.09310	N	1	P;P;D;P	0.56035	0.753;0.89;0.974;0.91	B;B;P;B	0.47251	0.27;0.299;0.542;0.424	T	0.29971	-0.9994	10	0.49607	T	0.09	-2.5231	7.6231	0.28197	0.0766:0.0:0.6329:0.2906	.	233;1787;1238;1895	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1895;1895;1787;233	ENSP00000262715:A1895V;ENSP00000452574:A1787V;ENSP00000438849:A233V	ENSP00000262715:A1895V	A	-	2	0	TEP1	19916060	0.004000	0.15560	0.001000	0.08648	0.103000	0.19146	1.316000	0.33620	0.279000	0.22186	-1.214000	0.01621	GCG		0.592	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		91	34	0	0	0	1	0	91	34					A	20846220	G	A	20846220	3	1	311	1	0	0	0	0	1	0	0	0	15756	1087	38	1	2267	1	TEP1	14	20846220	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		20846220	86503320	431	31505											
NDRG2	57447	broad.mit.edu	37	chr14	21486616	21486616	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaacaggttactgacCttgaggaacgaggtctgggt	14	9	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	ENST00000556147.1	-	13	1801	c.861G>A	c.(859-861)aaG>aaA	p.K287K	NDRG2_ENST00000397851.2_Splice_Site_p.K287K|NDRG2_ENST00000397853.3_Splice_Site_p.K287K|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000553503.1_Splice_Site_p.K273K|NDRG2_ENST00000403829.3_Splice_Site_p.K283K|NDRG2_ENST00000298684.5_Splice_Site_p.K244K|NDRG2_ENST00000360463.3_Splice_Site_p.K273K|NDRG2_ENST00000350792.3_Splice_Site_p.K273K|NDRG2_ENST00000555158.1_Splice_Site_p.K273K|NDRG2_ENST00000554104.1_Splice_Site_p.K200K|NDRG2_ENST00000554143.1_Splice_Site_p.K273K|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000298687.5_Splice_Site_p.K287K|NDRG2_ENST00000397855.3_Splice_Site_p.K244K|NDRG2_ENST00000397858.1_Splice_Site_p.K287K|NDRG2_ENST00000397847.2_Splice_Site_p.K276K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	287					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572																																						ENST00000556147.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23						c.e13+1		NDRG family member 2							94	89	91					14																	21486616		2203	4300	6503	SO:0001630	splice_region_variant	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21486616C>T	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.861+1G>A	14.37:g.21486616C>T						NDRG2_ENST00000298687.5_Splice_Site_p.K287_splice|NDRG2_ENST00000553503.1_Splice_Site_p.K273_splice|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000298684.5_Splice_Site_p.K244_splice|NDRG2_ENST00000403829.3_Splice_Site_p.K283_splice|NDRG2_ENST00000397858.1_Splice_Site_p.K287_splice|NDRG2_ENST00000350792.3_Splice_Site_p.K273_splice|NDRG2_ENST00000397855.3_Splice_Site_p.K244_splice|NDRG2_ENST00000554143.1_Splice_Site_p.K273_splice|NDRG2_ENST00000397851.2_Splice_Site_p.K287_splice|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397847.2_Splice_Site_p.K276_splice|NDRG2_ENST00000360463.3_Splice_Site_p.K273_splice|NDRG2_ENST00000397853.3_Splice_Site_p.K287_splice|NDRG2_ENST00000554104.1_Splice_Site_p.K200_splice|NDRG2_ENST00000555158.1_Splice_Site_p.K273_splice	p.K287_splice			Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	13	1801	-	all_cancers(95;0.00185)		287					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Splice_Site	SNP	ENST00000556147.1	37	c.861_splice	CCDS9565.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144663	0.57044	.	.	ENSG00000165795	ENST00000553593	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	T	0.73853	0.3640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71965	-0.4433	4	.	.	.	-21.3047	17.2897	0.87152	0.0:1.0:0.0:0.0	.	.	.	.	K	203	.	.	R	-	2	0	NDRG2	20556456	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.214000	0.77958	2.689000	0.91719	0.655000	0.94253	AGA		0.572	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		Silent	5	37	0	0	0	1	0	5	37					T	21486616	C	T	21486616	5	4	311	1	0	0	0	0	0	0	1	0	10252	695	24	2	270	2	NDRG2	14	21486616	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	640396	21486616	85862924	432	31506											
RNF31	55072	broad.mit.edu	37	chr14	24629769	24629769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggacagagtatcccccGcaggcggaagtagctgaggg	16	10	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	ENST00000324103.6	+	21	3526	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H|IRF9_ENST00000396864.3_5'Flank|IRF9_ENST00000557894.1_5'Flank|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R544H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	1069	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGTATCCCCCGCAGGCGGAAG	0.562											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000558468.1																			0											c.(1630-1632)cGc>cAc									37	43	41					14																	24629769		1887	4111	5998	SO:0001583	missense	0							g.chr14:24629769G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.3206G>A	14.37:g.24629769G>A	ENSP00000315112:p.Arg1069His		OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	RNF31_ENST00000324103.6_Missense_Mutation_p.R1069H|RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H	p.R544H							13	1631	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1631G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000029	0.93227	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.59772	0.24;0.25	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.996;0.999	T	0.75187	-0.3406	10	0.87932	D	0	-19.6704	16.4924	0.84205	0.0:0.0:1.0:0.0	.	1069;828;1069;918	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	H	502;1069;918	ENSP00000315112:R1069H;ENSP00000372134:R918H	ENSP00000315112:R1069H	R	+	2	0	RNF31	23699609	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.624000	0.74243	2.882000	0.98803	0.655000	0.94253	CGC		0.562	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		22	17	0	0	0	1	0	22	17					A	24629769	G	A	24629769	3	1	311	1	0	0	0	0	1	0	0	0	13487	1087	38	1	3288	1	RNF31	14	24629769	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3143153	24629769	82719771	433	31507											
RABGGTA	5875	broad.mit.edu	37	chr14	24737796	24737796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgttggggcaactggtcGttgagggaggcagcaggcag	19	6	0	1	rs370715682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	ENST00000399409.3	-	9	1413	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_ENST00000216840.6_Silent_p.N310N|RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	310					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(928-930)aaC>aaT		Rab geranylgeranyltransferase, alpha subunit		G	,	0,4152		0,0,2076	89	94	93		930,930	-0.2	1	14		93	1,8411		0,1,4205	no	coding-synonymous,coding-synonymous	RABGGTA	NM_004581.3,NM_182836.1	,	0,1,6281	AA,AG,GG		0.0119,0.0,0.0080	,	310/568,310/568	24737796	1,12563	2076	4206	6282	SO:0001819	synonymous_variant	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737796G>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.930C>T	14.37:g.24737796G>A						RABGGTA_ENST00000216840.6_Silent_p.N310N|RABGGTA_ENST00000560777.1_Intron	p.N310N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	1413	-			310					A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	37	c.930C>T	CCDS45088.1																																																																																				0.552	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		46	21	0	0	0	1	0	46	21					A	24737796	G	A	24737796	2	1	311	1	0	0	0	0	0	0	0	1	12967	1136	40	1		1	RABGGTA	14	24737796	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	108027	24737796	82611744	434	31508											
KHNYN	23351	broad.mit.edu	37	chr14	24901644	24901644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaagcagcagggcatgGcacggggtcgggggcctcaa	18	10	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	ENST00000251343.5	+	3	1316	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T|KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	393							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			0				kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1177-1179)Gca>Aca		KH and NYN domain containing							20	23	22					14																	24901644		2196	4271	6467	SO:0001583	missense	23351							g.chr14:24901644G>A	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.1177G>A	14.37:g.24901644G>A	ENSP00000251343:p.Ala393Thr		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T	p.A393T			O15037	KHNYN_HUMAN			3	1316	+			393					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.1177G>A	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	G	4.255	0.046332	0.08243	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.25414	1.8;1.8;1.8	4.64	1.17	0.20885	.	0.523787	0.21356	N	0.075900	T	0.12860	0.0312	L	0.27053	0.805	0.20873	N	0.999836	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18903	-1.0322	10	0.21540	T	0.41	.	3.4873	0.07625	0.1134:0.1595:0.5644:0.1627	.	434;393	D3DS77;O15037	.;KHNYN_HUMAN	T	393	ENSP00000251343:A393T;ENSP00000451106:A393T;ENSP00000450799:A393T	ENSP00000251343:A393T	A	+	1	0	KHNYN	23971484	0.003000	0.15002	0.621000	0.29145	0.102000	0.19082	0.392000	0.20801	0.523000	0.28482	0.462000	0.41574	GCA		0.667	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			11	51	0	0	0	1	0	11	51					A	24901644	G	A	24901644	3	1	311	1	0	0	0	0	1	0	0	0	8150	1203	42	2	1183	2	KHNYN	14	24901644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	163848	24901644	82447896	435	31509											
FBXO34	55030	broad.mit.edu	37	chr14	55818984	55818984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgggttcgagatccaCgctatagagaggatccttgc	12	11	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	ENST00000313833.4	+	2	2121	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1876-1878)Cgc>Tgc		F-box protein 34							102	93	96					14																	55818984		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818984C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1876C>T	14.37:g.55818984C>T	ENSP00000313159:p.Arg626Cys					FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	2121	+			626					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1876C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625078	0.28889	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.22134	1.97;1.97	5.91	2.05	0.26809	F-box domain, Skp2-like (1);	0.326580	0.28470	N	0.015226	T	0.20251	0.0487	M	0.71581	2.175	0.80722	D	1	B	0.28667	0.219	B	0.16722	0.016	T	0.03394	-1.1041	10	0.66056	D	0.02	.	7.2197	0.25979	0.1212:0.686:0.0:0.1928	.	626	Q9NWN3	FBX34_HUMAN	C	626	ENSP00000313159:R626C;ENSP00000394117:R626C	ENSP00000313159:R626C	R	+	1	0	FBXO34	54888737	0.996000	0.38824	0.989000	0.46669	0.568000	0.35870	3.151000	0.50670	0.109000	0.17891	-0.136000	0.14681	CGC		0.478	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			54	34	0	0	0	1	0	54	34					T	55818984	C	T	55818984	3	4	311	1	0	0	0	0	1	0	0	0	5744	536	19	1	1878	1	FBXO34	14	55818984	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30917340	55818984	51530556	436	31510											
C14orf37	145407	broad.mit.edu	37	chr14	58605364	58605364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctgtggactcagcaCcaggaaaagaagttgtcctg	12	10	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	ENST00000267485.7	-	2	907	c.713G>A	c.(712-714)gGt>gAt	p.G238D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(712-714)gGt>gAt		chromosome 14 open reading frame 37							106	91	96					14																	58605364		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605364C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.713G>A	14.37:g.58605364C>T	ENSP00000267485:p.Gly238Asp					C14orf37_ENST00000334342.5_5'UTR	p.G238D	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	907	-			238					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.713G>A	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899526	0.02472	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.24350	1.86	5.45	1.18	0.20946	.	0.993560	0.08183	N	0.985144	T	0.11623	0.0283	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.15473	0.001;0.013;0.001;0.001	B;B;B;B	0.16722	0.006;0.016;0.006;0.006	T	0.36962	-0.9726	10	0.07325	T	0.83	-5.0E-4	1.9858	0.03436	0.1527:0.4133:0.2673:0.1666	.	276;238;238;238	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	D	238;276	ENSP00000267485:G238D	ENSP00000267485:G238D	G	-	2	0	C14orf37	57675117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.030000	0.12308	0.393000	0.25203	-0.137000	0.14449	GGT		0.498	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		57	32	0	0	0	1	0	57	32					T	58605364	C	T	58605364	3	4	311	1	0	0	0	0	1	0	0	0	1771	507	18	2	1639	2	C14orf37	14	58605364	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2786380	58605364	48744176	437	31511											
SPTB	6710	broad.mit.edu	37	chr14	65253771	65253771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactacctttgtcttgtccGtgatccacttgctggtctcc	7	15	2	1	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	ENST00000389721.5	-	15	2944	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000389722.3_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M|SPTB_ENST00000542895.1_Missense_Mutation_p.T971M	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	971					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)	p.T971M(2)		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)		TGTCTTGTCCGTGATCCACTT	0.592																																						ENST00000389722.3																			2	Substitution - Missense(2)	p.T971M(2)	large_intestine(1)|prostate(1)	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						c.(2911-2913)aCg>aTg		spectrin, beta, erythrocytic			MET/THR,MET/THR	0,4406		0,0,2203	78	74	75		2912,2912	-10.2	0	14	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	971/2138,971/2329	65253771	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253771G>A		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.2912C>T	14.37:g.65253771G>A	ENSP00000374371:p.Thr971Met					SPTB_ENST00000542895.1_Missense_Mutation_p.T971M|SPTB_ENST00000389721.5_Missense_Mutation_p.T971M|SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M	p.T971M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	2965	-		all_lung(585;4.15e-09)	971					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2912C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448583	0.26074	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.09	-10.2	0.00374	.	2.016160	0.01971	N	0.044112	T	0.28732	0.0712	L	0.29908	0.895	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.17098	0.017;0.01	T	0.16867	-1.0388	10	0.51188	T	0.08	.	2.5189	0.04675	0.2341:0.0899:0.3725:0.3035	.	971;975	P11277;Q59FP5	SPTB1_HUMAN;.	M	975;971;971;971;971;971	ENSP00000374372:T971M;ENSP00000451752:T971M;ENSP00000374371:T971M;ENSP00000443882:T971M;ENSP00000374370:T971M	ENSP00000374370:T971M	T	-	2	0	SPTB	64323524	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-3.094000	0.00607	-2.916000	0.00306	-0.275000	0.10095	ACG		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			42	10	0	0	0	1	0	42	10					A	65253771	G	A	65253771	3	1	311	1	0	0	0	0	1	0	0	0	15117	1145	40	1	4227	1	SPTB	14	65253771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6648407	65253771	42095769	438	31512											
PAPLN	89932	broad.mit.edu	37	chr14	73726060	73726060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgaggtgaccccaggggcGaccaaggcacccacctgtca	12	15	1	1	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	ENST00000554301.1	+	15	1955	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_ENST00000427855.1_Missense_Mutation_p.D598N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	598						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)		CCCCAGGGGCGACCAAGGCAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15297	0.0		0.0	False		,,,				2504	0.001					ENST00000427855.1																			0				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						c.(1792-1794)Gac>Aac		papilin, proteoglycan-like sulfated glycoprotein		G	ASN/ASP	0,4406		0,0,2203	52	55	54		1711	-0.3	0	14	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAPLN	NM_173462.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	571/1252	73726060	1,13005	2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73726060G>A	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.1792G>A	14.37:g.73726060G>A	ENSP00000451803:p.Asp598Asn					PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D598N	p.D598N			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	16	1894	+			598					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1792G>A		.	.	.	.	.	.	.	.	.	.	G	0.186	-1.057574	0.01965	0.0	1.16E-4	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.62639	0.01;0.01;0.32;0.01;0.15	0.137	-0.274	0.12910	.	.	.	.	.	T	0.44973	0.1319	L	0.44542	1.39	0.09310	N	1	B;B;B	0.13594	0.003;0.004;0.008	B;B;B	0.06405	0.002;0.001;0.002	T	0.26326	-1.0106	8	0.17369	T	0.5	.	.	.	.	.	598;598;571	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	N	571;598;598;598;598	ENSP00000345395:D571N;ENSP00000403403:D598N;ENSP00000370558:D598N;ENSP00000451803:D598N;ENSP00000451729:D598N	ENSP00000216658:D598N	D	+	1	0	PAPLN	72795813	0.011000	0.17503	0.006000	0.13384	0.031000	0.12232	1.010000	0.29898	-0.750000	0.04740	-0.734000	0.03567	GAC		0.672	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		57	28	0	0	0	1	0	57	28					A	73726060	G	A	73726060	3	1	311	1	0	0	0	0	1	0	0	0	11428	1058	37	1	1765	1	PAPLN	14	73726060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8472289	73726060	33623480	439	31513											
C14orf118	55668	broad.mit.edu	37	chr14	76668169	76668173	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-													tacattttttaaaatgccacAagaaaagagccctggataca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76668169_76668173delAAGAA	ENST00000261530.7	+	10	1490_1494	c.1424_1428delAAGAA	c.(1423-1428)caagaafs	p.QE475fs	GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.QE470fs|GPATCH2L_ENST00000556675.1_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	475								p.E476*(1)									AAAATGCCACAAGAAAAGAGCCCTG	0.488																																						ENST00000261530.7																			1	Substitution - Nonsense(1)	p.E476*(1)	large_intestine(1)								c.(1423-1428)cfs		G patch domain containing 2-like																																				SO:0001589	frameshift_variant	55668							g.chr14:76668169_76668173delAAGAA	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.1424_1428delAAGAA	14.37:g.76668169_76668173delAAGAA	ENSP00000261530:p.Gln475fs					GPATCH2L_ENST00000556675.1_Intron|GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.QE470fs	p.QE475fs	NM_017926.2	NP_060396.2					10	1490_1494	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Frame_Shift_Del	DEL	ENST00000261530.7	37	c.1424_1428delAAGAA	CCDS9848.1																																																																																				0.488	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		40	49						40	49	---	---	---	---	-	76668173	AAGAA	-	76668169	7	5	311	1	0	1	0	1	0	0	0	0	1741	130	5	0	1502	0	C14orf118	14	76668169	Frame_Shift_Del	DEL	AAGAA	TCGA-HT-8564-01A-11D-2395-08	2942109	76668169	30681371	440	31514											
ESRRB	2103	broad.mit.edu	37	chr14	76905826	76905826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtccgacgccagcggcGgctttggcctggccctgggc	16	16	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	ENST00000509242.1	+	3	228	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_ENST00000380887.2_Missense_Mutation_p.G44S|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	44					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)		CGCCAGCGGCGGCTTTGGCCT	0.692																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(130-132)Ggc>Agc		estrogen-related receptor beta							22	24	23					14																	76905826		2184	4273	6457	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905826G>A	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.130G>A	14.37:g.76905826G>A	ENSP00000422488:p.Gly44Ser					ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S|ESRRB_ENST00000509242.1_Missense_Mutation_p.G44S	p.G44S			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	2	202	+			44					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.130G>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	7.563	0.665156	0.14710	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.92397	-3.03;-3.03;-3.0;-3.03;-3.02	5.13	4.2	0.49525	.	0.050091	0.85682	N	0.000000	T	0.78704	0.4325	N	0.05230	-0.09	0.58432	D	0.999999	B;B	0.31949	0.314;0.348	B;B	0.28784	0.094;0.094	T	0.72928	-0.4143	10	0.12430	T	0.62	.	8.8145	0.34987	0.1791:0.0:0.8209:0.0	.	44;49	Q5F0P7;E7EWD9	.;.	S	49;44;44;44;44	ENSP00000424992:G49S;ENSP00000422488:G44S;ENSP00000451658:G44S;ENSP00000370270:G44S;ENSP00000261532:G44S	ENSP00000261532:G44S	G	+	1	0	ESRRB	75975579	1.000000	0.71417	0.872000	0.34217	0.874000	0.50279	4.894000	0.63206	1.078000	0.41014	0.655000	0.94253	GGC		0.692	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			50	20	0	0	0	1	0	50	20					A	76905826	G	A	76905826	3	1	311	1	0	0	0	0	1	0	0	0	5261	1116	39	1	132	1	ESRRB	14	76905826	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	237657	76905826	30443714	441	31515											
CCDC88C	440193	broad.mit.edu	37	chr14	91806240	91806240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcacctcggtgcactcGtcccgctggtcgatgagcct	13	15	0	1	rs368679007		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	ENST00000389857.6	-	7	698	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	204					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)				CGGTGCACTCGTCCCGCTGGT	0.677																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(610-612)gaC>gaT		coiled-coil domain containing 88C		G		0,4052		0,0,2026	10	13	12		612	-0.2	1	14		12	1,8327		0,1,4163	no	coding-synonymous	CCDC88C	NM_001080414.3		0,1,6189	AA,AG,GG		0.012,0.0,0.0081		204/2029	91806240	1,12379	2026	4164	6190	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91806240G>A		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.612C>T	14.37:g.91806240G>A							p.D204D	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			7	698	-		all_cancers(154;0.0468)	204					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.612C>T	CCDS45151.1																																																																																				0.677	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		3	7	0	0	0	1	0	3	7					A	91806240	G	A	91806240	2	1	311	1	0	0	0	0	0	0	0	1	2865	1136	40	1		1	CCDC88C	14	91806240	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14900414	91806240	15543300	442	31516											
RIN3	79890	broad.mit.edu	37	chr14	93118358	93118358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtgcctgccccccacGtcacaccccatgccccaggt	7	23	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	ENST00000216487.7	+	6	1123	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	322	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(964-966)Gtc>Atc		Ras and Rab interactor 3							9	11	10					14																	93118358		1991	3929	5920	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118358G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.964G>A	14.37:g.93118358G>A	ENSP00000216487:p.Val322Ile					RIN3_ENST00000418924.2_3'UTR	p.V322I	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1123	+		all_cancers(154;0.0701)	322			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.964G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382999	0.42207	.	.	ENSG00000100599	ENST00000216487	T	0.05447	3.44	4.33	-4.26	0.03755	.	4.873430	0.00481	N	0.000134	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.10296	0.003;0.003	B;B	0.01281	0.0;0.0	T	0.36648	-0.9739	10	0.22706	T	0.39	-1.1346	1.2425	0.01966	0.2272:0.2071:0.1197:0.4459	.	247;322	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	I	322	ENSP00000216487:V322I	ENSP00000216487:V322I	V	+	1	0	RIN3	92188111	0.000000	0.05858	0.000000	0.03702	0.543000	0.35085	-0.962000	0.03841	-0.571000	0.06014	-0.671000	0.03813	GTC		0.711	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			12	5	0	0	0	1	0	12	5					A	93118358	G	A	93118358	3	1	311	1	0	0	0	0	1	0	0	0	13373	1145	40	1	986	1	RIN3	14	93118358	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1312118	93118358	14231182	443	31517											
KIAA1409	57578	broad.mit.edu	37	chr14	93963615	93963615	+	Frame_Shift_Del	DEL	G	G	-													tggggcaataagcgagtacaGggggttgcagtacacaggta							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93963615delG	ENST00000393151.2	+	7	881	c.881delG	c.(880-882)aggfs	p.R294fs	UNC79_ENST00000256339.4_Frame_Shift_Del_p.R117fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.R294fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.R294fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	294					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						AGCGAGTACAGGGGGTTGCAG	0.493																																						ENST00000553484.1																			0				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						c.(880-882)agfs		unc-79 homolog (C. elegans)							57	54	55					14																	93963615		2203	4300	6503	SO:0001589	frameshift_variant	57578					integral to membrane		g.chr14:93963615delG	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.881delG	14.37:g.93963615delG	ENSP00000376858:p.Arg294fs					UNC79_ENST00000393151.2_Frame_Shift_Del_p.R294fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.R117fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.R294fs	p.R294fs			Q9P2D8	UNC79_HUMAN			7	1035	+			294					B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	ENST00000393151.2	37	c.881delG																																																																																					0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		28	16						28	16	---	---	---	---	-	93963615	G	-	93963615	7	5	311	1	0	1	0	1	0	0	0	0	8230	1000	35	0	364	0	KIAA1409	14	93963615	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	845257	93963615	13385925	444	31518											
AK7	122481	broad.mit.edu	37	chr14	96864584	96864584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgcggcctgactttgCggtggagacgtactctgtaa	13	12	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	ENST00000267584.4	+	2	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	93					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)		CCTGACTTTGCGGTGGAGACG	0.547																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(277-279)gCg>gTg		adenylate kinase 7							85	76	79					14																	96864584		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864584C>T	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.278C>T	14.37:g.96864584C>T	ENSP00000267584:p.Ala93Val					AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	p.A93V	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	322	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	93					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.278C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701701	0.15172	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.52526	0.66	5.18	5.18	0.71444	.	0.272597	0.35151	N	0.003417	T	0.53465	0.1798	L	0.31294	0.92	0.39606	D	0.969801	B;D	0.89917	0.081;1.0	B;D	0.83275	0.015;0.996	T	0.43360	-0.9396	10	0.02654	T	1	-20.8039	18.2805	0.90096	0.0:1.0:0.0:0.0	.	93;93	Q96M32;G3V365	KAD7_HUMAN;.	V	93	ENSP00000267584:A93V	ENSP00000267584:A93V	A	+	2	0	AK7	95934337	0.998000	0.40836	0.233000	0.24025	0.072000	0.16883	4.969000	0.63735	2.445000	0.82738	0.491000	0.48974	GCG		0.547	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			50	34	0	0	0	1	0	50	34					T	96864584	C	T	96864584	3	4	311	1	0	0	0	0	1	0	0	0	444	768	27	1	284	1	AK7	14	96864584	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2900969	96864584	10484956	445	31519											
TDRD9	122402	broad.mit.edu	37	chr14	104490932	104490932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacttccagaagcagaCggtagatcctatgcaagtct	11	9	1	3	rs139118201	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	ENST00000409874.4	+	25	2681	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	878					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)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343													C|||	2	0.000399361	0.0	0.0	5008	,	,		16555	0.002		0.0	False		,,,				2504	0.0					ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2632-2634)aCg>aTg		tudor domain containing 9							150	136	141					14																	104490932		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104490932C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2633C>T	14.37:g.104490932C>T	ENSP00000387303:p.Thr878Met					TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			25	2681	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	878					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2633C>T	CCDS9987.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.96	3.515343	0.64634	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03553	3.89;3.91	5.47	4.58	0.56647	.	0.087183	0.48767	D	0.000176	T	0.03178	0.0093	L	0.29908	0.895	0.49915	D	0.999835	P;P	0.44139	0.827;0.729	B;B	0.34418	0.182;0.053	T	0.57051	-0.7877	10	0.44086	T	0.13	.	13.6597	0.62359	0.0:0.9256:0.0:0.0744	.	878;878	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	M	878	ENSP00000387303:T878M;ENSP00000343545:T878M	ENSP00000343545:T878M	T	+	2	0	TDRD9	103560685	0.950000	0.32346	0.955000	0.39395	0.892000	0.51952	2.049000	0.41288	2.573000	0.86826	0.563000	0.77884	ACG		0.343	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		38	26	0	0	0	1	0	38	26					T	104490932	C	T	104490932	3	4	311	1	0	0	0	0	1	0	0	0	15733	536	19	1	2731	1	TDRD9	14	104490932	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7626348	104490932	2858608	446	31520											
KIAA0284	283638	broad.mit.edu	37	chr14	105354097	105354097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatcctggccatgccccGgaagcgggccggctccttca	13	16	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:105354097G>A	ENST00000414716.3	+	12	3749	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	CEP170B_ENST00000418279.1_Missense_Mutation_p.R1104Q|CEP170B_ENST00000453495.1_Missense_Mutation_p.R1175Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1104Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1174						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCCATGCCCCGGAAGCGGGCC	0.697																																						ENST00000453495.1																			0											c.(3523-3525)cGg>cAg		centrosomal protein 170B							7	10	9					14																	105354097		1924	4089	6013	SO:0001583	missense	283638							g.chr14:105354097G>A	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.3521G>A	14.37:g.105354097G>A	ENSP00000404151:p.Arg1174Gln					CEP170B_ENST00000414716.3_Missense_Mutation_p.R1174Q|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1104Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1104Q	p.R1175Q							12	3752	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3524G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	g	29.8	5.037054	0.93630	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.74106	-0.71;-0.4;-0.81;-0.33	4.03	4.03	0.46877	.	0.000000	0.64402	U	0.000002	D	0.86389	0.5921	M	0.81341	2.54	0.48830	D	0.999717	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.944;0.997	D	0.89104	0.3491	10	0.87932	D	0	-15.4133	16.1565	0.81673	0.0:0.0:1.0:0.0	.	1174;1174;1104	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	Q	1104;1174;1175;1104	ENSP00000451249:R1104Q;ENSP00000404151:R1174Q;ENSP00000407238:R1175Q;ENSP00000415006:R1104Q	ENSP00000404151:R1174Q	R	+	2	0	KIAA0284	104425142	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.520000	0.98027	1.801000	0.52704	0.472000	0.43445	CGG		0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	8	0	0	0	1	0	4	8					A	105354097	G	A	105354097	3	1	311	1	0	0	0	0	1	0	0	0	8166	1116	39	1	3563	1	KIAA0284	14	105354097	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	863165	105354097	1995443	447	31521											
TJP1	7082	broad.mit.edu	37	chr15	30003072	30003072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaatgtatgtggagagaCgcgctggtgacaggctgaga	16	5	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	ENST00000346128.6	-	24	4809	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_ENST00000400011.2_Silent_p.A1369A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000356107.6_Silent_p.A1445A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1445					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4333-4335)gcG>gcA		tight junction protein 1							158	168	164					15																	30003072		2055	4192	6247	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30003072C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4335G>A	15.37:g.30003072C>T						TJP1_ENST00000400011.2_Silent_p.A1369A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000356107.6_Silent_p.A1445A	p.A1445A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	4809	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1445					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.4335G>A	CCDS42007.1																																																																																				0.498	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		56	256	0	0	0	1	0	56	256					T	30003072	C	T	30003072	2	4	311	1	0	0	0	0	0	0	0	1	15926	523	19	1		1	TJP1	15	30003072	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		30003072	72528320	448	31522											
ZNF770	54989	broad.mit.edu	37	chr15	35274621	35274621	+	Frame_Shift_Del	DEL	T	T	-													acgcttaagcttggccaagaTttttttaacaatggttttat							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	ENST00000356321.4	-	3	1359	c.1015delA	c.(1015-1017)atcfs	p.I339fs		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	339					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)		TTGGCCAAGATTTTTTTAACA	0.328																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1015-1017)tcfs		zinc finger protein 770							25	27	26					15																	35274621		2196	4290	6486	SO:0001589	frameshift_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274621delT	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.1015delA	15.37:g.35274621delT	ENSP00000348673:p.Ile339fs						p.I339fs	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1359	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	339					Q6ZMZ6|Q9NWV2	Frame_Shift_Del	DEL	ENST00000356321.4	37	c.1015delA	CCDS10042.1																																																																																				0.328	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		11	26						11	26	---	---	---	---	-	35274621	T	-	35274621	7	5	311	1	0	1	0	1	0	0	0	0	18140	1493	52	0	1064	0	ZNF770	15	35274621	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	5271549	35274621	67256771	449	31523											
ZFYVE19	84936	broad.mit.edu	37	chr15	41102150	41102150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgcctagcacgactcCgccaggagaacaagcccagt	11	15	0	2	rs199947417	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	ENST00000355341.4	+	4	1054	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	185					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)	p.R185C(3)		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)		AGCACGACTCCGCCAGGAGAA	0.602													C|||	3	0.000599042	0.0	0.0029	5008	,	,		20024	0.0		0.001	False		,,,				2504	0.0					ENST00000355341.4																			3	Substitution - Missense(3)	p.R185C(3)	lung(2)|skin(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(553-555)Cgc>Tgc		zinc finger, FYVE domain containing 19		C	CYS/ARG	1,4303		0,1,2151	67	74	72		553	5.7	1	15		72	13,8523		0,13,4255	yes	missense	ZFYVE19	NM_001077268.1	180	0,14,6406	TT,TC,CC		0.1523,0.0232,0.109	probably-damaging	185/472	41102150	14,12826	2152	4268	6420	SO:0001583	missense	84936						zinc ion binding	g.chr15:41102150C>T	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.553C>T	15.37:g.41102150C>T	ENSP00000347498:p.Arg185Cys					ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C	p.R185C	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1054	+		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)	185					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Missense_Mutation	SNP	ENST00000355341.4	37	c.553C>T	CCDS42025.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.0	4.088648	0.76756	2.32E-4	0.001523	ENSG00000166140	ENST00000355341;ENST00000299173;ENST00000336455	T;T;T	0.18174	2.23;2.25;2.23	5.7	5.7	0.88788	.	0.046980	0.85682	D	0.000000	T	0.40119	0.1104	M	0.70275	2.135	0.52099	D	0.999941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.942;0.968	T	0.15607	-1.0431	10	0.87932	D	0	-15.422	12.2983	0.54860	0.1692:0.8308:0.0:0.0	.	175;185;185	Q96K21-2;Q96K21-3;Q96K21	.;.;ZFY19_HUMAN	C	185;185;175	ENSP00000347498:R185C;ENSP00000299173:R185C;ENSP00000337824:R175C	ENSP00000299173:R185C	R	+	1	0	ZFYVE19	38889442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.052000	0.57420	2.692000	0.91855	0.655000	0.94253	CGC		0.602	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		45	72	0	0	0	1	0	45	72					T	41102150	C	T	41102150	3	4	311	1	0	0	0	0	1	0	0	0	17662	652	23	1	567	1	ZFYVE19	15	41102150	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5827529	41102150	61429242	450	31524											
SQRDL	58472	broad.mit.edu	37	chr15	45974846	45974846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttcctacgtcaaagacCgctgctgcagtaggtaagtc	9	12	1	1	rs370801060		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	ENST00000260324.7	+	7	1421	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_ENST00000568606.1_Silent_p.T345T	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	345					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 inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(1033-1035)acC>acT		sulfide quinone reductase-like (yeast)		C		0,4396		0,0,2198	120	105	110		1035	-11.8	0.1	15		110	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	SQRDL	NM_021199.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		345/451	45974846	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45974846C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.1035C>T	15.37:g.45974846C>T						SQRDL_ENST00000568606.1_Silent_p.T345T	p.T345T	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	7	1421	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	345					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.1035C>T	CCDS10127.1																																																																																				0.478	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			51	76	0	0	0	1	0	51	76					T	45974846	C	T	45974846	2	4	311	1	0	0	0	0	0	0	0	1	15128	639	23	1		1	SQRDL	15	45974846	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4872696	45974846	56556546	451	31525											
PIGB	9488	broad.mit.edu	37	chr15	55647590	55647590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatatatgtctatgaacGgaagttaaaagggaaattca	8	5	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	ENST00000164305.5	+	12	1916	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q|CCPG1_ENST00000442196.3_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	542					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|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)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1624-1626)cGg>cAg		phosphatidylinositol glycan anchor biosynthesis, class B							96	95	95					15																	55647590		1816	4068	5884	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55647590G>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1625G>A	15.37:g.55647590G>A	ENSP00000164305:p.Arg542Gln					CCPG1_ENST00000442196.3_3'UTR|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.R542Q	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	12	1916	+			542					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.1625G>A		.	.	.	.	.	.	.	.	.	.	G	19.98	3.927547	0.73327	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.61040	0.44;0.14	6.08	4.22	0.49857	.	0.179629	0.48767	D	0.000167	T	0.70509	0.3232	M	0.71871	2.18	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.71024	-0.4712	10	0.51188	T	0.08	-10.8233	11.176	0.48598	0.204:0.0:0.796:0.0	.	542	Q92521	PIGB_HUMAN	Q	542;347	ENSP00000164305:R542Q;ENSP00000438963:R347Q	ENSP00000164305:R542Q	R	+	2	0	PIGB	53434882	1.000000	0.71417	0.349000	0.25694	0.942000	0.58702	2.328000	0.43867	0.909000	0.36697	0.591000	0.81541	CGG		0.358	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		11	98	0	0	0	1	0	11	98					A	55647590	G	A	55647590	3	1	311	1	0	0	0	0	1	0	0	0	11885	1116	39	1	1671	1	PIGB	15	55647590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9672744	55647590	46883802	452	31526											
IQCH	64799	broad.mit.edu	37	chr15	67629360	67629360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaacatatccagcctcacGgttctgccatcttctcattg	5	14	5	0	rs369068114		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	ENST00000335894.4	+	5	501	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	145										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(433-435)acG>acA		IQ motif containing H		G		0,4402		0,0,2201	148	141	143		435	-11.5	0	15		143	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	IQCH	NM_001031715.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		145/1028	67629360	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67629360G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.435G>A	15.37:g.67629360G>A						IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	p.T145T	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	5	501	+			145					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.435G>A	CCDS32273.1																																																																																				0.383	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		8	134	0	0	0	1	0	8	134					A	67629360	G	A	67629360	2	1	311	1	0	0	0	0	0	0	0	1	7811	1103	39	1		1	IQCH	15	67629360	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11981770	67629360	34902032	453	31527											
UACA	55075	broad.mit.edu	37	chr15	70991907	70991907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttgcctggattgaccccCtttttagcaaggattgaggt	11	8	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	ENST00000322954.6	-	2	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000379983.2_Silent_p.K44K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57					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						GATTGACCCCCTTTTTAGCAA	0.403																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(169-171)aaG>aaA		uveal autoantigen with coiled-coil domains and ankyrin repeats							200	171	181					15																	70991907		2199	4297	6496	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70991907C>T	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.171G>A	15.37:g.70991907C>T						UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000379983.2_Silent_p.K44K	p.K57K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			2	356	-			57					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.171G>A	CCDS10235.1																																																																																				0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			65	90	0	0	0	1	0	65	90					T	70991907	C	T	70991907	2	4	311	1	0	0	0	0	0	0	0	1	16821	680	24	2		2	UACA	15	70991907	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3362547	70991907	31539485	454	31528											
SGK269	79834	broad.mit.edu	37	chr15	77425402	77425402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcagtatagtaaaccGcatcacctgcctcacaacat	6	12	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:77425402G>A	ENST00000560626.2	-	6	4497	c.4022C>T	c.(4021-4023)gCg>gTg	p.A1341V	PEAK1_ENST00000312493.4_Missense_Mutation_p.A1341V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)										ATAGTAAACCGCATCACCTGC	0.413																																						ENST00000560626.2																			0											c.(4021-4023)gCg>gTg		pseudopodium-enriched atypical kinase 1							81	82	82					15																	77425402		1927	4141	6068	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425402G>A		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.4022C>T	15.37:g.77425402G>A	ENSP00000452796:p.Ala1341Val					PEAK1_ENST00000312493.4_Missense_Mutation_p.A1341V	p.A1341V			Q9H792	PEAK1_HUMAN			6	4497	-			1341			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4022C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264488	0.95399	.	.	ENSG00000173517	ENST00000312493	T	0.30981	1.51	5.56	5.56	0.83823	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63563	-0.6609	10	0.87932	D	0	-6.3935	19.5258	0.95206	0.0:0.0:1.0:0.0	.	1341	Q9H792	PEAK1_HUMAN	V	1341	ENSP00000309230:A1341V	ENSP00000309230:A1341V	A	-	2	0	AC087465.1	75212457	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.869000	0.99810	2.612000	0.88384	0.655000	0.94253	GCG		0.413	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	118	0	0	0	1	0	6	118					A	77425402	G	A	77425402	3	1	311	1	0	0	0	0	1	0	0	0	14211	1087	38	1	1226	1	SGK269	15	77425402	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6433495	77425402	25105990	455	31529											
IL16	3603	broad.mit.edu	37	chr15	81592468	81592469	+	Frame_Shift_Ins	INS	-	-	C													cagcccaatcagaaaactctINScccccctggcccggacccgc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	ENST00000302987.4	+	13	2801_2802	c.2801_2802insC	c.(2800-2805)ctccccfs	p.LP934fs	IL16_ENST00000394660.2_Frame_Shift_Ins_p.LP934fs|IL16_ENST00000394652.2_Frame_Shift_Ins_p.LP233fs			Q14005	IL16_HUMAN	interleukin 16	934				L -> F (in Ref. 1; AAD04636). {ECO:0000305}.	immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2800-2802)cccfs		interleukin 16																																				SO:0001589	frameshift_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592468_81592469insC	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2807dupC	15.37:g.81592474_81592474dupC	ENSP00000302935:p.Leu934fs					IL16_ENST00000394652.2_Frame_Shift_Ins_p.P233fs|IL16_ENST00000302987.4_Frame_Shift_Ins_p.P934fs	p.P934fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3161_3162	+			934	L -> F (in Ref. 1; AAD04636).				A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Frame_Shift_Ins	INS	ENST00000302987.4	37	c.2801_2802insC	CCDS42069.1																																																																																				0.644	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		10	157						10	157	---	---	---	---	C	81592469	-	C	81592468	7	5	311	1	0	1	1	0	0	0	0	0	7633	1551	54	0	2851	0	IL16	15	81592468	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	4167066	81592468	20938924	456	31530											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccatggtcttgctgcccccGacatcggcgtgtaccggtgc	12	15	1	0	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2926-2928)Gac>Aac		ADAMTS-like 3		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	80	81	81		2926	5.1	0.9	15	dbSNP_134	81	0,8600		0,0,4300	no	missense	ADAMTSL3	NM_207517.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	976/1692	84651306	1,13005	2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651306G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2926G>A	15.37:g.84651306G>A	ENSP00000286744:p.Asp976Asn					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3150	+			976			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2926G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810721	0.70797	2.27E-4	0.0	ENSG00000156218	ENST00000286744	D	0.85484	-1.99	5.05	5.05	0.67936	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000335	D	0.94712	0.8294	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95906	0.8919	10	0.62326	D	0.03	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	976;976	P82987-2;P82987	.;ATL3_HUMAN	N	976	ENSP00000286744:D976N	ENSP00000286744:D976N	D	+	1	0	ADAMTSL3	82442310	1.000000	0.71417	0.869000	0.34112	0.057000	0.15508	6.786000	0.75094	2.338000	0.79540	0.563000	0.77884	GAC		0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		68	116	0	0	0	1	0	68	116					A	84651306	G	A	84651306	3	1	311	1	0	0	0	0	1	0	0	0	276	1058	37	1	3004	1	ADAMTSL3	15	84651306	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3058838	84651306	17880086	457	31531											
ALPK3	57538	broad.mit.edu	37	chr15	85382932	85382932	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccgctcctacctctaGgtgtcgagaagaagatgccg	10	14	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	ENST00000258888.5	+	5	1195		c.e5-1			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)			CCTACCTCTAGGTGTCGAGAA	0.647																																						ENST00000258888.5																			0				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						c.e5-1		alpha-kinase 3							71	66	68					15																	85382932		2203	4299	6502	SO:0001630	splice_region_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85382932G>A	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.1029-1G>A	15.37:g.85382932G>A								NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1195	+								Q9P2L6	Splice_Site	SNP	ENST00000258888.5	37		CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914330	0.52546	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6289	0.76885	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPK3	83183936	1.000000	0.71417	0.995000	0.50966	0.459000	0.32528	8.771000	0.91751	2.265000	0.75225	0.655000	0.94253	.		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Intron	53	103	0	0	0	1	0	53	103					A	85382932	G	A	85382932	5	1	311	1	0	0	0	0	0	0	1	0	546	1014	35	2	1046	2	ALPK3	15	85382932	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	731626	85382932	17148460	458	31532											
ALPK3	57538	broad.mit.edu	37	chr15	85403041	85403041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcggccttggccatcGtgcaggcctcccccgtagac	14	17	0	1	rs377209768		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	ENST00000258888.5	+	8	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1536	Ig-like 2.				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)			CTTGGCCATCGTGCAGGCCTC	0.657																																						ENST00000258888.5																			0				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						c.(4606-4608)Gtg>Atg		alpha-kinase 3		G	MET/VAL	1,4403	2.1+/-5.4	0,1,2201	30	29	29		4606	5.5	1	15		29	0,8598		0,0,4299	no	missense	ALPK3	NM_020778.4	21	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1536/1908	85403041	1,13001	2202	4299	6501	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403041G>A	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.4606G>A	15.37:g.85403041G>A	ENSP00000258888:p.Val1536Met						p.V1536M	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4773	+			1536			Ig-like 2.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4606G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154194	0.78114	2.27E-4	0.0	ENSG00000136383	ENST00000258888	T	0.42900	0.96	5.52	5.52	0.82312	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.072838	0.53938	D	0.000044	T	0.63628	0.2527	M	0.67397	2.05	0.34862	D	0.742698	D	0.89917	1.0	D	0.72075	0.976	T	0.73792	-0.3871	10	0.87932	D	0	-7.7075	16.929	0.86184	0.0:0.0:1.0:0.0	.	1536	Q96L96	ALPK3_HUMAN	M	1536	ENSP00000258888:V1536M	ENSP00000258888:V1536M	V	+	1	0	ALPK3	83204045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.845000	0.62853	2.599000	0.87857	0.563000	0.77884	GTG		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		36	42	0	0	0	1	0	36	42					A	85403041	G	A	85403041	3	1	311	1	0	0	0	0	1	0	0	0	546	1145	40	1	4636	1	ALPK3	15	85403041	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20109	85403041	17128351	459	31533											
AGBL1	123624	broad.mit.edu	37	chr15	86800128	86800128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgtcatctctgtggtGcttcagatcctgaggcagtg	13	11	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	ENST00000441037.2	+	7	737	c.642G>A	c.(640-642)gtG>gtA	p.V214V	AGBL1_ENST00000421325.2_Silent_p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	214					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(640-642)gtG>gtA		ATP/GTP binding protein-like 1							104	104	104					15																	86800128		2070	4203	6273	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86800128G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.642G>A	15.37:g.86800128G>A						AGBL1_ENST00000421325.2_Silent_p.V214V	p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			7	737	+			214					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.642G>A	CCDS58398.1																																																																																				0.562	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		8	39	0	0	0	1	0	8	39					A	86800128	G	A	86800128	2	1	311	1	0	0	0	0	0	0	0	1	375	1306	46	2		2	AGBL1	15	86800128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1397087	86800128	15731264	460	31534											
KIF7	374654	broad.mit.edu	37	chr15	90176401	90176401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggctgaccacagagcCgttgctgccactgcgcctct	10	16	1	2	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	ENST00000394412.3	-	13	2765	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	897					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)			ACCACAGAGCCGTTGCTGCCA	0.622																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2689-2691)Ggc>Agc		kinesin family member 7		C	SER/GLY	1,4399	2.1+/-5.4	0,1,2199	58	54	55		2689	5	1	15	dbSNP_134	55	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIF7	NM_198525.2	56	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	897/1344	90176401	2,12996	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90176401C>T	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.2689G>A	15.37:g.90176401C>T	ENSP00000377934:p.Gly897Ser						p.G897S	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		13	2765	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		897					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2689G>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734345	0.89482	2.27E-4	1.16E-4	ENSG00000166813	ENST00000394412	T	0.33216	1.42	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.919	T	0.38887	-0.9640	10	0.08599	T	0.76	.	17.8033	0.88595	0.0:1.0:0.0:0.0	.	383;897	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	S	897	ENSP00000377934:G897S	ENSP00000377934:G897S	G	-	1	0	KIF7	87977405	1.000000	0.71417	0.990000	0.47175	0.843000	0.47879	5.676000	0.68131	2.280000	0.76307	0.561000	0.74099	GGC		0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		6	20	0	0	0	1	0	6	20					T	90176401	C	T	90176401	3	4	311	1	0	0	0	0	1	0	0	0	8309	652	23	1	1370	1	KIF7	15	90176401	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3376273	90176401	12354991	461	31535											
MAN2A2	4122	broad.mit.edu	37	chr15	91455396	91455396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacggccggcagctgtccGtcagcaggcacgaagcgttt	14	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	ENST00000559717.1	+	15	2692	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Missense_Mutation_p.V745I|MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	745					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)			GCAGCTGTCCGTCAGCAGGCA	0.647																																						ENST00000360468.3																			0				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						c.(2233-2235)Gtc>Atc		mannosidase, alpha, class 2A, member 2							71	67	68					15																	91455396		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91455396G>A	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.2233G>A	15.37:g.91455396G>A	ENSP00000452948:p.Val745Ile					MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V745I	p.V745I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2251	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		745					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2233G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	g	8.331	0.826460	0.16749	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83075	-1.68;-1.68	5.29	4.38	0.52667	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.309465	0.36409	N	0.002619	T	0.69196	0.3084	L	0.27944	0.81	0.80722	D	1	B;B;B	0.32731	0.382;0.048;0.021	B;B;B	0.25506	0.061;0.036;0.021	T	0.64659	-0.6355	10	0.15499	T	0.54	-38.8665	12.5225	0.56067	0.0776:0.0:0.9224:0.0	.	253;373;745	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	I	745;253	ENSP00000353655:V745I;ENSP00000388221:V253I	ENSP00000353655:V745I	V	+	1	0	MAN2A2	89256400	0.559000	0.26562	0.836000	0.33094	0.147000	0.21601	1.450000	0.35134	1.262000	0.44165	-0.365000	0.07479	GTC		0.647	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		45	170	0	0	0	1	0	45	170					A	91455396	G	A	91455396	3	1	311	1	0	0	0	0	1	0	0	0	9215	1145	40	1	2287	1	MAN2A2	15	91455396	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1278995	91455396	11075996	462	31536											
CHD2	1106	broad.mit.edu	37	chr15	93489391	93489391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaattccagaattgcaTtgacagcttccacagtagga	8	8	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	ENST00000394196.4	+	12	2390	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_ENST00000536619.1_Missense_Mutation_p.I454T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T|CHD2_ENST00000557381.1_Missense_Mutation_p.I441T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	441	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(1321-1323)aTt>aCt		chromodomain helicase DNA binding protein 2							85	86	86					15																	93489391		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489391T>C	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1322T>C	15.37:g.93489391T>C	ENSP00000377747:p.Ile441Thr					CHD2_ENST00000536619.1_Missense_Mutation_p.I454T|CHD2_ENST00000557381.1_Missense_Mutation_p.I441T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T	p.I441T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2390	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		441			Chromo 2.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.1322T>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357829	0.82243	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.57	5.57	0.84162	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.34507	U	0.003915	D	0.89787	0.6816	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	0.994;0.997;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.91398	0.5141	10	0.62326	D	0.03	-12.4802	16.0216	0.80499	0.0:0.0:0.0:1.0	.	454;441;441	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	T	441;441;441;454	ENSP00000377747:I441T;ENSP00000451366:I441T;ENSP00000406581:I441T;ENSP00000443618:I454T	ENSP00000311700:I179T	I	+	2	0	CHD2	91290395	1.000000	0.71417	0.996000	0.52242	0.607000	0.37147	7.698000	0.84413	2.242000	0.73789	0.533000	0.62120	ATT		0.418	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		49	67	0	0	0	1	0	49	67					C	93489391	T	C	93489391	3	2	311	1	0	0	0	0	1	0	0	0	3325	1493	52	3	1364	3	CHD2	15	93489391	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	2033995	93489391	9042001	463	31537											
LRRK1	79705	broad.mit.edu	37	chr15	101567987	101567987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacgacatcaaggactacGaggacctgcagtcaggtggg	13	10	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	ENST00000388948.3	+	19	3030	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	LRRK1_ENST00000284395.5_Missense_Mutation_p.E888K	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)			CAAGGACTACGAGGACCTGCA	0.617																																						ENST00000284395.5																			0				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						c.(2662-2664)Gag>Aag		leucine-rich repeat kinase 1							24	34	31					15																	101567987		2160	4254	6414	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567987G>A	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.2671G>A	15.37:g.101567987G>A	ENSP00000373600:p.Glu891Lys					LRRK1_ENST00000388948.3_Missense_Mutation_p.E891K	p.E888K			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		20	3062	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		891						Missense_Mutation	SNP	ENST00000388948.3	37	c.2662G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575125	0.65878	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.74315	-0.8;-0.83	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.81435	-0.0934	10	0.22706	T	0.39	.	17.5082	0.87753	0.0:0.0:1.0:0.0	.	891	Q38SD2	LRRK1_HUMAN	K	891;888	ENSP00000373600:E891K;ENSP00000284395:E888K	ENSP00000284395:E888K	E	+	1	0	LRRK1	99385510	1.000000	0.71417	0.992000	0.48379	0.524000	0.34500	9.169000	0.94788	2.195000	0.70347	0.563000	0.77884	GAG		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		5	10	0	0	0	1	0	5	10					A	101567987	G	A	101567987	3	1	311	1	0	0	0	0	1	0	0	0	9032	1059	37	1	2741	1	LRRK1	15	101567987	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8078596	101567987	963405	464	31538											
MSLN	10232	broad.mit.edu	37	chr16	814961	814961	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtttcttctcccgcatcacGaaggccaatgtggacctgct	9	14	3	0	rs371797682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	ENST00000382862.3	+	7	530	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_ENST00000566549.1_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	145					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(433-435)acG>acA		mesothelin		G	,,	1,4361	2.1+/-5.4	0,1,2180	30	31	30		435,435,435	-5	0	16		30	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,1,6472	AA,AG,GG		0.0,0.0229,0.0077	,,	145/623,145/623,145/631	814961	1,12945	2181	4292	6473	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814961G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.435G>A	16.37:g.814961G>A						MSLN_ENST00000382862.3_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T	p.T145T			Q13421	MSLN_HUMAN			7	852	+		Hepatocellular(780;0.00335)	145					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.435G>A	CCDS32356.1																																																																																				0.701	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			11	34	0	0	0	1	0	11	34					A	814961	G	A	814961	2	1	311	1	0	0	0	0	0	0	0	1	9881	1045	37	1		1	MSLN	16	814961	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		814961	89539792	465	31539											
RPUSD1	113000	broad.mit.edu	37	chr16	836114	836114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctatcctcggggtcagggtCgggggtggcccgtaaggcct	17	12	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	ENST00000561734.1	-	5	1018	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000565809.1_3'UTR			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	259	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(775-777)Gac>Aac		RNA pseudouridylate synthase domain containing 1							19	25	23					16																	836114		2188	4284	6472	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836114C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.775G>A	16.37:g.836114C>T	ENSP00000455026:p.Asp259Asn					RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N|RPUSD1_ENST00000565809.1_3'UTR	p.D259N			Q9UJJ7	RUSD1_HUMAN			5	1018	-		Hepatocellular(780;0.00335)	259			Pro-rich.		D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.775G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887989	0.33348	.	.	ENSG00000007376	ENST00000007264	T	0.17528	2.27	4.21	4.21	0.49690	.	0.694522	0.14725	N	0.302106	T	0.12518	0.0304	L	0.44542	1.39	0.19300	N	0.999973	P	0.47253	0.892	B	0.30316	0.114	T	0.17653	-1.0362	10	0.54805	T	0.06	-39.2218	12.1355	0.53968	0.0:1.0:0.0:0.0	.	259	Q9UJJ7	RUSD1_HUMAN	N	259	ENSP00000007264:D259N	ENSP00000007264:D259N	D	-	1	0	RPUSD1	776115	0.704000	0.27836	0.895000	0.35142	0.147000	0.21601	0.978000	0.29488	1.920000	0.55613	0.456000	0.33151	GAC		0.726	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		51	38	0	0	0	1	0	51	38					T	836114	C	T	836114	3	4	311	1	0	0	0	0	1	0	0	0	13666	884	31	1	167	1	RPUSD1	16	836114	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21153	836114	89518639	466	31540											
PRR25	388199	broad.mit.edu	37	chr16	855739	855739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcaggaacagcgcagccGctcgcaaatgcagtgtgcga	13	12	1	0	rs544058956		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	ENST00000301698.1	+	1	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17571	0.0		0.0	False		,,,				2504	0.001					ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(295-297)ccG>ccA		proline rich 25							21	27	25					16																	855739		1939	4140	6079	SO:0001819	synonymous_variant	388199							g.chr16:855739G>A	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.297G>A	16.37:g.855739G>A							p.P99P	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			1	297	+			99						Silent	SNP	ENST00000301698.1	37	c.297G>A	CCDS45372.1																																																																																				0.647	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		19	26	0	0	0	1	0	19	26					A	855739	G	A	855739	2	1	311	1	0	0	0	0	0	0	0	1	12597	1074	38	1		1	PRR25	16	855739	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19625	855739	89499014	467	31541											
CACNA1H	8912	broad.mit.edu	37	chr16	1250283	1250283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaccttcctgcggccGtactaccagacggaggaggg	13	13	0	2	rs374861940		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	ENST00000348261.5	+	7	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_ENST00000565831.1_Silent_p.P277P|CACNA1H_ENST00000358590.4_Silent_p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	277					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)	TCCTGCGGCCGTACTACCAGA	0.632																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(829-831)ccG>ccA		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						31	31	31					16																	1250283		2098	4200	6298	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250283G>A	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.831G>A	16.37:g.1250283G>A						CACNA1H_ENST00000565831.1_Silent_p.P277P|CACNA1H_ENST00000358590.4_Silent_p.P277P	p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			7	1079	+		Hepatocellular(780;0.00369)	277					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.831G>A	CCDS45375.1																																																																																				0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		3	25	0	0	0	1	0	3	25					A	1250283	G	A	1250283	2	1	311	1	0	0	0	0	0	0	0	1	2545	1132	40	1		1	CACNA1H	16	1250283	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	394544	1250283	89104470	468	31542											
TPSAB1	7177	broad.mit.edu	37	chr16	1292148	1292148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcgtggtcagctggggCgagggctgtgcccagcccaa	19	12	1	0	rs147278526		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	ENST00000338844.3	+	6	768	c.735C>T	c.(733-735)ggC>ggT	p.G245G	TPSAB1_ENST00000461509.2_Silent_p.G252G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	245	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in allele alpha; dbSNP:rs1060292).		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		7411	0.0		0.001	False		,,,				2504	0.0					ENST00000461509.2																			0				NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(754-756)ggC>ggT		tryptase alpha/beta 1		C		1,4393	2.1+/-5.4	0,1,2196	45	43	44		735	-6.2	0	16	dbSNP_134	44	17,8533	9.8+/-36.6	1,15,4259	no	coding-synonymous	TPSAB1	NM_003294.3		1,16,6455	TT,TC,CC		0.1988,0.0228,0.1391		245/276	1292148	18,12926	2197	4275	6472	SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1292148C>T	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.735C>T	16.37:g.1292148C>T						TPSAB1_ENST00000338844.3_Silent_p.G245G	p.G252G			P20231	TRYB2_HUMAN			5	950	+		Hepatocellular(780;0.00369)	245			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.756C>T	CCDS10431.1																																																																																				0.657	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		11	36	0	0	0	1	0	11	36					T	1292148	C	T	1292148	2	4	311	1	0	0	0	0	0	0	0	1	16420	755	27	1		1	TPSAB1	16	1292148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	41865	1292148	89062605	469	31543											
C16orf42	84572	broad.mit.edu	37	chr16	1400178	1400180	+	5'Flank	DEL	AAG	AAG	-													ggagctggcggttcaggtccAagaagcccttgccccattta							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1400178_1400180delAAG	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_In_Frame_Del_p.F194del	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)				GTTCAGGTCCAAGAAGCCCTTGC	0.591																																						ENST00000007390.2																			0											c.(580-585)ttg>tt		TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	115939							g.chr16:1400178_1400180delAAG	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.1400181_1400183delAAG	Exception_encountered						p.FL194del	NM_001001410.2	NP_001001410.1					4	688_690	-								B2R556|Q6XYD7|Q96L13	In_Frame_Del	DEL	ENST00000204679.4	37	c.582_584delCTT	CCDS10436.1																																																																																				0.591	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		21	44						21	44	---	---	---	---	-	1400180	AAG	-	1400178	6	5	311	0	1	1	0	1	0	0	0	0	1813	131	5	0		0	C16orf42	16	1400178	5'Flank	DEL	AAG	TCGA-HT-8564-01A-11D-2395-08	108030	1400178	88954575	470	31544											
RAB26	25837	broad.mit.edu	37	chr16	2202854	2202854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccacgagtacgcccagCacgacgtggcgctcatgctg	12	14	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	ENST00000210187.6	+	6	662	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	SNORD60_ENST00000383903.1_RNA|TRAF7_ENST00000326181.6_5'Flank|RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y|RP11-304L19.5_ENST00000563192.1_lincRNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	168					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						GTACGCCCAGCACGACGTGGC	0.687																																						ENST00000210187.6																			0				kidney(1)|large_intestine(1)|lung(3)	5						c.(502-504)Cac>Tac		RAB26, member RAS oncogene family							29	29	29					16																	2202854		2193	4288	6481	SO:0001583	missense	25837				exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	g.chr16:2202854C>T	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.502C>T	16.37:g.2202854C>T	ENSP00000210187:p.His168Tyr					RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y	p.H168Y	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN			6	662	+			168					B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	c.502C>T	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331046	0.24167	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.76709	-1.04;-1.04	3.96	0.348	0.16026	Small GTP-binding protein domain (1);	0.554687	0.17044	N	0.189183	T	0.60038	0.2238	N	0.22421	0.69	0.22050	N	0.999399	B	0.17465	0.022	B	0.14578	0.011	T	0.53620	-0.8413	10	0.87932	D	0	.	5.8803	0.18852	0.3208:0.3631:0.3161:0.0	.	168	Q9ULW5	RAB26_HUMAN	Y	102;168	ENSP00000441580:H102Y;ENSP00000210187:H168Y	ENSP00000210187:H168Y	H	+	1	0	RAB26	2142855	0.000000	0.05858	0.600000	0.28864	0.542000	0.35054	-1.139000	0.03213	0.306000	0.22856	0.313000	0.20887	CAC		0.687	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			17	47	0	0	0	1	0	17	47					T	2202854	C	T	2202854	3	4	311	1	0	0	0	0	1	0	0	0	12913	710	25	2	524	2	RAB26	16	2202854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	802676	2202854	88151899	471	31545											
ABCA3	21	broad.mit.edu	37	chr16	2367755	2367755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgagccccatcatgCgcatgtactcctggggagag	13	12	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	ENST00000301732.5	-	9	1584	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	295					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)	CCCCATCATGCGCATGTACTC	0.627																																						ENST00000301732.5																			0				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						c.(883-885)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 3							103	101	101					16																	2367755		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2367755C>T	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.884G>A	16.37:g.2367755C>T	ENSP00000301732:p.Arg295His					ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			9	1584	-		Ovarian(90;0.17)	295					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.884G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373137	0.24857	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.84730	-1.89	4.97	3.01	0.34805	.	0.111846	0.64402	D	0.000017	T	0.79197	0.4405	L	0.52573	1.65	0.80722	D	1	B;B;B	0.17038	0.02;0.017;0.02	B;B;B	0.18561	0.015;0.022;0.015	T	0.71300	-0.4634	10	0.36615	T	0.2	.	9.0699	0.36486	0.0:0.752:0.0:0.248	.	295;357;295	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	H	295;357	ENSP00000301732:R295H	ENSP00000301732:R295H	R	-	2	0	ABCA3	2307756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.847000	0.48270	0.611000	0.30052	0.561000	0.74099	CGC		0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		51	62	0	0	0	1	0	51	62					T	2367755	C	T	2367755	3	4	311	1	0	0	0	0	1	0	0	0	33	768	27	1	4330	1	ABCA3	16	2367755	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	164901	2367755	87986998	472	31546											
NTN3	4917	broad.mit.edu	37	chr16	2522004	2522004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagtccctgcctcgggCgcccctcaacgtgactctca	10	18	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	ENST00000293973.1	+	1	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	101	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(301-303)gCg>gTg		netrin 3							14	17	16					16																	2522004		2160	4239	6399	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522004C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.302C>T	16.37:g.2522004C>T	ENSP00000293973:p.Ala101Val						p.A101V	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	505	+			101			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.302C>T	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	0.809	-0.752670	0.03041	.	.	ENSG00000162068	ENST00000293973	T	0.75477	-0.94	3.82	-2.02	0.07388	Laminin, N-terminal (3);	0.577792	0.17035	N	0.189545	T	0.48502	0.1503	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26710	-1.0095	10	0.23891	T	0.37	.	8.5068	0.33193	0.0:0.5271:0.0:0.4729	.	101	O00634	NET3_HUMAN	V	101	ENSP00000293973:A101V	ENSP00000293973:A101V	A	+	2	0	NTN3	2462005	0.000000	0.05858	0.005000	0.12908	0.058000	0.15608	-0.162000	0.10012	-0.649000	0.05430	-0.379000	0.06801	GCG		0.706	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		15	53	0	0	0	1	0	15	53					T	2522004	C	T	2522004	3	4	311	1	0	0	0	0	1	0	0	0	10701	768	27	1	304	1	NTN3	16	2522004	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	154249	2522004	87832749	473	31547											
NTN3	4917	broad.mit.edu	37	chr16	2522180	2522180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgacctggactatggcCgtctgcctgcccctgccaat	10	15	1	1	rs369956934		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	ENST00000293973.1	+	1	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	160	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(478-480)Cgt>Tgt		netrin 3		C	CYS/ARG	0,4392		0,0,2196	21	25	24		478	3	1	16		24	1,8595		0,1,4297	no	missense	NTN3	NM_006181.2	180	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	160/581	2522180	1,12987	2196	4298	6494	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522180C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.478C>T	16.37:g.2522180C>T	ENSP00000293973:p.Arg160Cys						p.R160C	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN			1	681	+			160			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.478C>T	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021442	0.35701	0.0	1.16E-4	ENSG00000162068	ENST00000293973	T	0.75589	-0.95	4.08	3.05	0.35203	Laminin, N-terminal (3);	0.165133	0.34580	N	0.003842	D	0.83138	0.5189	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.82744	-0.0306	10	0.48119	T	0.1	.	8.8447	0.35164	0.3943:0.6057:0.0:0.0	.	160	O00634	NET3_HUMAN	C	160	ENSP00000293973:R160C	ENSP00000293973:R160C	R	+	1	0	NTN3	2462181	0.994000	0.37717	0.982000	0.44146	0.281000	0.26958	0.446000	0.21694	2.121000	0.65114	0.462000	0.41574	CGT		0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		18	44	0	0	0	1	0	18	44					T	2522180	C	T	2522180	3	4	311	1	0	0	0	0	1	0	0	0	10701	652	23	1	480	1	NTN3	16	2522180	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	176	2522180	87832573	474	31548											
ZNF205	7755	broad.mit.edu	37	chr16	3169669	3169669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgggcgagaagccctaCgcctgcactgactgcgggaa	13	14	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	ENST00000382192.3	+	7	1213	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	336					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1006-1008)taC>taT		zinc finger protein 205							53	59	57					16																	3169669		2197	4300	6497	SO:0001819	synonymous_variant	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3169669C>T	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1008C>T	16.37:g.3169669C>T						RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y|RP11-473M20.14_ENST00000576490.1_RNA	p.Y336Y	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1213	+			336					A8MZK0|D3DUB4|Q9BU95	Silent	SNP	ENST00000382192.3	37	c.1008C>T	CCDS10494.2																																																																																				0.682	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		86	89	0	0	0	1	0	86	89					T	3169669	C	T	3169669	2	4	311	1	0	0	0	0	0	0	0	1	17761	547	19	1		1	ZNF205	16	3169669	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647489	3169669	87185084	475	31549											
ABAT	18	broad.mit.edu	37	chr16	8858658	8858658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgctccaatgaaaacGccttaaagaccatcttcatg	6	13	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	ENST00000396600.2	+	8	1449	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000268251.8_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000569156.1_Missense_Mutation_p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510). {ECO:0000305}.	behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.A171T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592																																						ENST00000396600.2																			1	Substitution - Missense(1)	p.A171T(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(511-513)Gcc>Acc		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						135	110	119					16																	8858658		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8858658G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"4-aminobutyrate transaminase"	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.511G>A	16.37:g.8858658G>A	ENSP00000379845:p.Ala171Thr					ABAT_ENST00000569156.1_Missense_Mutation_p.A171T|ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000268251.8_Missense_Mutation_p.A171T	p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			8	1449	+			171	MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).				A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.511G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467972	0.96257	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.94613	-3.47;-3.47;-3.47	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99466	1.0944	10	0.72032	D	0.01	-13.7999	18.7245	0.91710	0.0:0.0:1.0:0.0	.	171	P80404	GABT_HUMAN	T	171	ENSP00000268251:A171T;ENSP00000379845:A171T;ENSP00000411916:A171T	ENSP00000268251:A171T	A	+	1	0	ABAT	8766159	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	9.331000	0.96430	2.661000	0.90470	0.650000	0.86243	GCC		0.592	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		25	97	0	0	0	1	0	25	97					A	8858658	G	A	8858658	3	1	311	1	0	0	0	0	1	0	0	0	27	1087	38	1	537	1	ABAT	16	8858658	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5688989	8858658	81496095	476	31550											
KIAA0430	9665	broad.mit.edu	37	chr16	15711316	15711316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaggagacacaccagccGtccgtttccttgttcacgga	12	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	ENST00000396368.3	-	14	3003	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	933	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				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						CACACCAGCCGTCCGTTTCCT	0.512																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2797-2799)Cgg>Tgg		KIAA0430							51	55	54					16																	15711316		1920	4119	6039	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15711316G>A	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.2797C>T	16.37:g.15711316G>A	ENSP00000379654:p.Arg933Trp					KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W	p.R933W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			14	3003	-			932					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2797C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780966	0.70222	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.37	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	L	0.58101	1.795	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;P	0.70487	0.916;0.969;0.969;0.826	T	0.78224	-0.2287	9	0.87932	D	0	.	16.5322	0.84364	0.0:0.0:0.7085:0.2915	.	932;930;929;932	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	W	933;768;932;575;930;933;753	.	ENSP00000315718:R932W	R	-	1	2	KIAA0430	15618817	0.302000	0.24454	0.253000	0.24343	0.989000	0.77384	0.647000	0.24812	0.465000	0.27167	0.561000	0.74099	CGG		0.512	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		16	56	0	0	0	1	0	16	56					A	15711316	G	A	15711316	3	1	311	1	0	0	0	0	1	0	0	0	8177	1144	40	1	2487	1	KIAA0430	16	15711316	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6852658	15711316	74643437	477	31551											
NDE1	54820	broad.mit.edu	37	chr16	15758701	15758701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactattggaaagatctggcGatgacctacaaacagaggtc	10	8	1	3	rs143820142	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	ENST00000396353.2	+	3	892	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_ENST00000396355.1_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A|NDE1_ENST00000396354.1_Silent_p.A22A			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	22	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(64-66)gcG>gcA		nudE neurodevelopment protein 1		G	,	2,4392	4.2+/-10.8	0,2,2195	116	114	115		66,66	-10.3	0.1	16	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NDE1	NM_001143979.1,NM_017668.2	,	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	,	22/336,22/336	15758701	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15758701G>A	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.66G>A	16.37:g.15758701G>A						NDE1_ENST00000396354.1_Silent_p.A22A|NDE1_ENST00000396353.2_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A	p.A22A	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			3	892	+			22			Self-association (By similarity).		Q49AQ2	Silent	SNP	ENST00000396353.2	37	c.66G>A																																																																																					0.473	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		90	80	0	0	0	1	0	90	80					A	15758701	G	A	15758701	2	1	311	1	0	0	0	0	0	0	0	1	10243	1045	37	1		1	NDE1	16	15758701	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	47385	15758701	74596052	478	31552											
DNAH3	55567	broad.mit.edu	37	chr16	21049298	21049298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgcaacgatcttctgggCgagactagaagggcaaagac	14	9	2	3	rs202009111		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	ENST00000261383.3	-	34	4734	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1579	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)|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)		ATCTTCTGGGCGAGACTAGAA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21135	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				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						c.(4735-4737)Gcc>Acc		dynein, axonemal, heavy chain 3							78	58	65					16																	21049298		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049298C>T	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.4735G>A	16.37:g.21049298C>T	ENSP00000261383:p.Ala1579Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4734	-			1579			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4735G>A	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.90	3.249258	0.59103	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.14022	2.54;2.54	5.76	3.79	0.43588	.	0.131385	0.49916	D	0.000126	T	0.45276	0.1334	H	0.94620	3.56	0.80722	D	1	D	0.63880	0.993	P	0.60345	0.873	T	0.63382	-0.6650	10	0.87932	D	0	.	15.2184	0.73288	0.2573:0.7427:0.0:0.0	.	1579	Q8TD57	DYH3_HUMAN	T	1579	ENSP00000261383:A1579T;ENSP00000394245:A1579T	ENSP00000261383:A1579T	A	-	1	0	DNAH3	20956799	0.891000	0.30450	0.695000	0.30226	0.267000	0.26476	1.794000	0.38774	0.770000	0.33336	-0.310000	0.09108	GCC		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	45	0	0	0	1	0	4	45					T	21049298	C	T	21049298	3	4	311	1	0	0	0	0	1	0	0	0	4603	768	27	1	7730	1	DNAH3	16	21049298	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5290597	21049298	69305455	479	31553											
IL21R	50615	broad.mit.edu	37	chr16	27445714	27445714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaccgattacctccagacGgtcatctgcatcctggaaat	7	13	2	1	rs187217568	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	ENST00000337929.3	+	3	569	c.96G>A	c.(94-96)acG>acA	p.T32T	IL21R_ENST00000564089.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T|IL21R_ENST00000395755.1_Silent_p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632			T	BCL6	NHL								g|||	3	0.000599042	0.0	0.0029	5008	,	,		16940	0.0		0.0	False		,,,				2504	0.001					ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(94-96)acG>acA		interleukin 21 receptor							117	92	100					16																	27445714		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27445714G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.96G>A	16.37:g.27445714G>A						IL21R_ENST00000564089.1_Silent_p.T32T|IL21R_ENST00000395755.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T	p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			3	569	+			32					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.96G>A	CCDS10630.1																																																																																				0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		46	43	0	0	0	1	0	46	43					A	27445714	G	A	27445714	2	1	311	1	0	0	0	0	0	0	0	1	7671	1103	39	1		1	IL21R	16	27445714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6396416	27445714	62909039	480	31554											
SEZ6L2	26470	broad.mit.edu	37	chr16	29900012	29900012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcacgtccccatgggcCggccggggagggaagccaca	14	15	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	ENST00000308713.5	-	6	1415	c.888G>A	c.(886-888)ccG>ccA	p.P296P	SEZ6L2_ENST00000346932.5_Silent_p.P182P|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	296	Sushi 1. {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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(886-888)ccG>ccA		seizure related 6 homolog (mouse)-like 2							43	41	42					16																	29900012		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29900012C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.888G>A	16.37:g.29900012C>T						SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000346932.5_Silent_p.P182P|SEZ6L2_ENST00000562159.1_5'UTR	p.P296P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			6	1415	-			296			Sushi 1.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.888G>A	CCDS10659.1																																																																																				0.637	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		14	75	0	0	0	1	0	14	75					T	29900012	C	T	29900012	2	4	311	1	0	0	0	0	0	0	0	1	14144	639	23	1		1	SEZ6L2	16	29900012	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2454298	29900012	60454741	481	31555											
C16orf92	146378	broad.mit.edu	37	chr16	30035371	30035371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcttgctggtggtggCgttcttctttctccttttcc	13	10	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	ENST00000300575.2	+	3	362	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	114						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582																																						ENST00000300575.2																			0				breast(3)|lung(3)	6						c.(340-342)gCg>gTg		chromosome 16 open reading frame 92							204	212	209					16																	30035371		2046	4205	6251	SO:0001583	missense	146378					integral to membrane		g.chr16:30035371C>T	AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.341C>T	16.37:g.30035371C>T	ENSP00000300575:p.Ala114Val						p.A114V	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN			3	362	+			114					Q494R8	Missense_Mutation	SNP	ENST00000300575.2	37	c.341C>T	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	C	2.977	-0.211178	0.06140	.	.	ENSG00000167194	ENST00000300575	T	0.30714	1.52	5.29	1.91	0.25777	.	0.148185	0.31734	N	0.007142	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	1	B;B	0.21753	0.06;0.017	B;B	0.17098	0.017;0.017	T	0.28933	-1.0028	10	0.08837	T	0.75	-14.5996	7.483	0.27417	0.0:0.7326:0.0:0.2674	.	114;92	Q96LL3;Q96LL3-2	CP092_HUMAN;.	V	114	ENSP00000300575:A114V	ENSP00000300575:A114V	A	+	2	0	C16orf92	29942872	0.000000	0.05858	0.019000	0.16419	0.007000	0.05969	0.181000	0.16880	0.614000	0.30107	-0.940000	0.02684	GCG		0.582	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659		63	74	0	0	0	1	0	63	74					T	30035371	C	T	30035371	3	4	311	1	0	0	0	0	1	0	0	0	1845	768	27	1	365	1	C16orf92	16	30035371	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	135359	30035371	60319382	482	31556											
TRIM72	260434	broad.mit.edu	37	chr16	31230620	31230620	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgcaggagacagtgcGtcagttccggggggccgtgg	17	11	1	1	rs201331213	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.R166H|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGACAGTGCGTCAGTTCCGG	0.647													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17477	0.001		0.0	False		,,,				2504	0.0					ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(496-498)cGt>cAt		tripartite motif containing 72							48	52	50					16																	31230620		2197	4300	6497	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230620G>A		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230620G>A	Exception_encountered						p.R166H	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			4	781	+			166					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.497G>A	CCDS10710.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.909	0.958253	0.18507	.	.	ENSG00000177238	ENST00000322122	T	0.64618	-0.11	5.37	3.39	0.38822	.	0.416376	0.22060	N	0.065196	T	0.48786	0.1519	L	0.53249	1.67	0.24096	N	0.995899	P	0.43662	0.814	B	0.35859	0.212	T	0.50013	-0.8877	10	0.56958	D	0.05	.	4.4822	0.11773	0.0815:0.2623:0.5128:0.1434	.	166	Q6ZMU5	TRI72_HUMAN	H	166	ENSP00000312675:R166H	ENSP00000312675:R166H	R	+	2	0	TRIM72	31138121	0.271000	0.24162	0.305000	0.25099	0.122000	0.20287	0.991000	0.29654	0.622000	0.30249	-0.182000	0.12963	CGT		0.647	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		40	134	0	0	0	1	0	40	134					A	31230620	G	A	31230620	1	1	311	0	1	0	0	0	0	0	0	0	16542	1145	40	1		1	TRIM72	16	31230620	5'Flank	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1195249	31230620	59124133	483	31557											
C16orf58	64755	broad.mit.edu	37	chr16	31512031	31512031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaggcaaagacgatgCggcccagcatgccagttgaa	11	13	0	2	rs550615888		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	ENST00000327237.2	-	3	476	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H|C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	146						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20800	0.0		0.0	False		,,,				2504	0.001					ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(436-438)cGc>cAc		chromosome 16 open reading frame 58							91	87	88					16																	31512031		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31512031C>T	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.437G>A	16.37:g.31512031C>T	ENSP00000317579:p.Arg146His					C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H|C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H	p.R146H			Q96GQ5	CP058_HUMAN			3	476	-			146					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.437G>A	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348453	0.95807	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000541442;ENST00000430477	T;T	0.47528	0.84;0.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.79327	-0.1849	10	0.56958	D	0.05	-17.7932	17.0016	0.86382	0.0:1.0:0.0:0.0	.	4;146	B4DJP2;Q96GQ5	.;CP058_HUMAN	H	146;100;146;4	ENSP00000317579:R146H;ENSP00000398074:R4H	ENSP00000317579:R146H	R	-	2	0	C16orf58	31419532	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.238000	0.65366	2.591000	0.87537	0.557000	0.71058	CGC		0.542	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		14	54	0	0	0	1	0	14	54					T	31512031	C	T	31512031	3	4	311	1	0	0	0	0	1	0	0	0	1822	768	27	1	1013	1	C16orf58	16	31512031	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	281411	31512031	58842722	484	31558											
CHD9	80205	broad.mit.edu	37	chr16	53190078	53190078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggtttgtcagatgatgCatttgtacaaccaggacctg	11	7	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	ENST00000398510.3	+	1	164	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_ENST00000564845.1_Missense_Mutation_p.A26V|CHD9_ENST00000447540.1_Missense_Mutation_p.A26V|CHD9_ENST00000566029.1_Missense_Mutation_p.A26V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	26					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)				TCAGATGATGCATTTGTACAA	0.388																																						ENST00000566029.1																			0				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						c.(76-78)gCa>gTa		chromodomain helicase DNA binding protein 9							113	102	106					16																	53190078		1876	4093	5969	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190078C>T	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.77C>T	16.37:g.53190078C>T	ENSP00000381522:p.Ala26Val					CHD9_ENST00000398510.3_Missense_Mutation_p.A26V|CHD9_ENST00000564845.1_Missense_Mutation_p.A26V|CHD9_ENST00000447540.1_Missense_Mutation_p.A26V	p.A26V			Q3L8U1	CHD9_HUMAN			2	286	+		all_cancers(37;0.0212)	26					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.77C>T		.	.	.	.	.	.	.	.	.	.	C	12.96	2.095839	0.36952	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.68765	-0.35;-0.35	5.57	5.57	0.84162	.	0.216450	0.31936	N	0.006827	T	0.64560	0.2609	L	0.47716	1.5	0.35878	D	0.828712	B;B;P;B	0.38827	0.137;0.084;0.649;0.137	B;B;B;B	0.38428	0.046;0.021;0.273;0.046	T	0.72534	-0.4264	10	0.51188	T	0.08	-5.5431	19.5623	0.95376	0.0:1.0:0.0:0.0	.	26;26;26;26	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	V	26	ENSP00000396345:A26V;ENSP00000381522:A26V	ENSP00000381522:A26V	A	+	2	0	CHD9	51747579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.586000	0.60984	2.619000	0.88677	0.650000	0.86243	GCA		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		6	45	0	0	0	1	0	6	45					T	53190078	C	T	53190078	3	4	311	1	0	0	0	0	1	0	0	0	3332	710	25	2	79	2	CHD9	16	53190078	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21678047	53190078	37164675	485	31559											
CHD9	80205	broad.mit.edu	37	chr16	53260306	53260307	+	Frame_Shift_Ins	INS	-	-	A													tcaaatcgacaaattaaaagINSaaaaaaatacgcagaagata							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	ENST00000398510.3	+	4	2012_2013	c.1925_1926insA	c.(1924-1929)agaaaafs	p.RK642fs	CHD9_ENST00000564845.1_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000566029.1_Frame_Shift_Ins_p.RK642fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				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)				CAAATTAAAAGAAAAAAATACG	0.292																																						ENST00000566029.1																			0				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						c.(1924-1926)aaafs		chromodomain helicase DNA binding protein 9																																				SO:0001589	frameshift_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53260306_53260307insA	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.1932dupA	16.37:g.53260313_53260313dupA	ENSP00000381522:p.Arg642fs					CHD9_ENST00000564845.1_Frame_Shift_Ins_p.K642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.K642fs|CHD9_ENST00000398510.3_Frame_Shift_Ins_p.K642fs	p.K642fs			Q3L8U1	CHD9_HUMAN			5	2134_2135	+		all_cancers(37;0.0212)	642			Lys-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Ins	INS	ENST00000398510.3	37	c.1925_1926insA																																																																																					0.292	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		8	28						8	28	---	---	---	---	A	53260307	-	A	53260306	7	5	311	1	0	1	1	0	0	0	0	0	3332	942	33	0	1939	0	CHD9	16	53260306	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	70228	53260306	37094447	486	31560											
LPCAT2	54947	broad.mit.edu	37	chr16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaggatggctacataaCggaggaagagttctccacca	12	8	1	3	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	ENST00000262134.5	+	13	1530	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						GGCTACATAACGGAGGAAGAG	0.433													C|||	21	0.00419329	0.0	0.0	5008	,	,		18890	0.0		0.001	False		,,,				2504	0.0204					ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1345-1347)aCg>aTg		lysophosphatidylcholine acyltransferase 2		C	MET/THR	5,4391	9.9+/-24.2	0,5,2193	165	168	167		1346	3.6	0	16	dbSNP_134	167	19,8581	14.0+/-48.4	0,19,4281	yes	missense	LPCAT2	NM_017839.4	81	0,24,6474	TT,TC,CC		0.2209,0.1137,0.1847	probably-damaging	449/545	55613052	24,12972	2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55613052C>T	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.1346C>T	16.37:g.55613052C>T	ENSP00000262134:p.Thr449Met					LPCAT2_ENST00000565056.1_3'UTR	p.T449M	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			13	1530	+			449			EF-hand 2.		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.1346C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530861	0.64972	0.001137	0.002209	ENSG00000087253	ENST00000262134	T	0.74737	-0.87	5.62	3.63	0.41609	EF-hand-like domain (1);	0.147653	0.64402	D	0.000010	D	0.86239	0.5885	M	0.90542	3.125	0.53688	D	0.999977	D	0.89917	1.0	D	0.68943	0.961	D	0.86564	0.1843	10	0.66056	D	0.02	-13.211	9.5934	0.39559	0.0:0.7824:0.1419:0.0757	.	449	Q7L5N7	PCAT2_HUMAN	M	449	ENSP00000262134:T449M	ENSP00000262134:T449M	T	+	2	0	LPCAT2	54170553	0.996000	0.38824	0.035000	0.18076	0.939000	0.58152	3.332000	0.52083	0.820000	0.34516	0.655000	0.94253	ACG		0.433	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		19	131	0	0	0	1	0	19	131					T	55613052	C	T	55613052	3	4	311	1	0	0	0	0	1	0	0	0	8911	536	19	1	1396	1	LPCAT2	16	55613052	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2352746	55613052	34741701	487	31561											
CDH5	1003	broad.mit.edu	37	chr16	66424460	66424460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccattgagacaaacccCgcccacaacgagggcatcat	7	15	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	ENST00000341529.3	+	6	1084	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_ENST00000563425.2_Silent_p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	312	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AGACAAACCCCGCCCACAACG	0.557																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(934-936)ccC>ccT		cadherin 5, type 2 (vascular endothelium)							89	77	81					16																	66424460		2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66424460C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.936C>T	16.37:g.66424460C>T						CDH5_ENST00000563425.2_Silent_p.P312P	p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	6	1084	+		Ovarian(137;0.0955)	312			Cadherin 3.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.936C>T	CCDS10804.1																																																																																				0.557	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		53	47	0	0	0	1	0	53	47					T	66424460	C	T	66424460	2	4	311	1	0	0	0	0	0	0	0	1	3113	639	23	1		1	CDH5	16	66424460	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10811408	66424460	23930293	488	31562											
TRADD	8717	broad.mit.edu	37	chr16	67188655	67188655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcgctgcagcgtggcgCggcggccctcggcctgcacg	17	17	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	ENST00000345057.4	-	5	1304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	279	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.|Interaction with KRT14 and KRT18.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(835-837)cGc>cAc		TNFRSF1A-associated via death domain							15	12	13					16																	67188655		2187	4279	6466	SO:0001583	missense	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67188655C>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.836G>A	16.37:g.67188655C>T	ENSP00000341268:p.Arg279His					TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	p.R279H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	5	1304	-		Ovarian(137;0.0563)	279			Death.|Interaction with KRT14 and KRT18.		B2RDS3|B3KQZ9|Q52NZ1	Missense_Mutation	SNP	ENST00000345057.4	37	c.836G>A	CCDS10829.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814858	0.50527	.	.	ENSG00000102871	ENST00000345057	D	0.85339	-1.97	4.94	4.94	0.65067	Death (3);DEATH-like (2);	0.272209	0.34700	N	0.003751	D	0.84951	0.5586	L	0.34521	1.04	0.31585	N	0.654591	D	0.89917	1.0	D	0.66602	0.945	T	0.83111	-0.0123	10	0.37606	T	0.19	-18.5003	7.3437	0.26652	0.0:0.8243:0.0:0.1757	.	279	Q15628	TRADD_HUMAN	H	279	ENSP00000341268:R279H	ENSP00000341268:R279H	R	-	2	0	TRADD	65746156	0.081000	0.21417	1.000000	0.80357	0.996000	0.88848	1.459000	0.35234	2.584000	0.87258	0.462000	0.41574	CGC		0.706	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			7	19	0	0	0	1	0	7	19					T	67188655	C	T	67188655	3	4	311	1	0	0	0	0	1	0	0	0	16433	768	27	1	106	1	TRADD	16	67188655	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	764195	67188655	23166098	489	31563											
SLC9A5	6553	broad.mit.edu	37	chr16	67289369	67289369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccactgactacctgaaggGagtcggtcagtatttccccg	12	12	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	ENST00000299798.11	+	4	793	c.728G>A	c.(727-729)gGa>gAa	p.G243E	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	243					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)		TACCTGAAGGGAGTCGGTCAG	0.587																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(727-729)gGa>gAa		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							69	71	70					16																	67289369		2088	4211	6299	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289369G>A		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.728G>A	16.37:g.67289369G>A	ENSP00000299798:p.Gly243Glu					SLC9A5_ENST00000561472.2_3'UTR	p.G243E	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	4	793	+		Ovarian(137;0.0563)	243					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.728G>A	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412465	0.96072	.	.	ENSG00000135740	ENST00000299798	T	0.16196	2.36	5.97	5.97	0.96955	Cation/H+ exchanger (1);	0.051701	0.85682	D	0.000000	T	0.49525	0.1562	M	0.89785	3.06	0.80722	D	1	D	0.58620	0.983	P	0.60473	0.875	T	0.56565	-0.7958	10	0.87932	D	0	.	19.4161	0.94700	0.0:0.0:1.0:0.0	.	243	Q14940	SL9A5_HUMAN	E	243	ENSP00000299798:G243E	ENSP00000299798:G243E	G	+	2	0	SLC9A5	65846870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.747000	0.91610	2.837000	0.97791	0.655000	0.94253	GGA		0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			56	60	0	0	0	1	0	56	60					A	67289369	G	A	67289369	3	1	311	1	0	0	0	0	1	0	0	0	14717	1174	41	2	742	2	SLC9A5	16	67289369	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	100714	67289369	23065384	490	31564											
FAM65A	79567	broad.mit.edu	37	chr16	67572573	67572575	+	In_Frame_Del	DEL	AGG	AGG	-													ctgaggacagcctctccttcAggagtttcccggtcttcagc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	ENST00000379312.3	+	3	236_238	c.115_117delAGG	c.(115-117)aggdel	p.R39del	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Splice_Site_p.K35del|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000540839.3_Splice_Site_p.K55del|FAM65A_ENST00000428437.2_Splice_Site_p.K49del|FAM65A_ENST00000422602.2_Splice_Site_p.K55del	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	39						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.66																																						ENST00000379312.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(115-117)del		family with sequence similarity 65, member A																																				SO:0001651	inframe_deletion	79567					cytoplasm	binding	g.chr16:67572573_67572575delAGG	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.115_117delAGG	16.37:g.67572573_67572575delAGG	ENSP00000368614:p.Arg39del					FAM65A_ENST00000540839.3_Splice_Site_p.55_splice|FAM65A_ENST00000428437.2_Splice_Site_p.49_splice|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Splice_Site_p.55_splice|FAM65A_ENST00000042381.4_Splice_Site_p.35_splice|FAM65A_ENST00000566522.1_Intron	p.R39del	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	3	236_238	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	39					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	In_Frame_Del	DEL	ENST00000379312.3	37	c.115_117delAGG	CCDS54028.1																																																																																				0.66	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		87	91						87	91	---	---	---	---	-	67572575	AGG	-	67572573	7	5	311	1	0	1	0	1	0	0	0	0	5599	202	7	0	109	0	FAM65A	16	67572573	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	283204	67572573	22782180	491	31565											
CENPT	80152	broad.mit.edu	37	chr16	67863714	67863714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagatgctcctggcccGtcagcctcagcagtcccctg	10	17	2	2	rs374799764		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000562947.1_5'Flank	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19142	0.001		0.0	False		,,,				2504	0.0					ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1138-1140)gaC>gaT		centromere protein T		G		2,4240		0,2,2119	150	161	157		1140	2.6	0	16		157	0,8474		0,0,4237	no	coding-synonymous	CENPT	NM_025082.3		0,2,6356	AA,AG,GG		0.0,0.0471,0.0157		380/562	67863714	2,12714	2121	4237	6358	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863714G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.1140C>T	16.37:g.67863714G>A						CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron	p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1688	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	380					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1140C>T	CCDS42182.1																																																																																				0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		57	149	0	0	0	1	0	57	149					A	67863714	G	A	67863714	2	1	311	1	0	0	0	0	0	0	0	1	3242	1136	40	1		1	CENPT	16	67863714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	291141	67863714	22491039	492	31566											
DDX19A	55308	broad.mit.edu	37	chr16	70400563	70400563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagatgctgcttttctcCgccacctttgaagactctgt	8	13	2	3	rs375391651		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	ENST00000302243.7	+	9	982	c.819C>T	c.(817-819)tcC>tcT	p.S273S	DDX19A_ENST00000443119.2_Silent_p.S183S|DDX19A_ENST00000417604.2_Silent_p.S242S	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	273	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCTTTTCTCCGCCACCTTTG	0.562																																						ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(817-819)tcC>tcT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A		T		1,4395	825.2+/-416.5	0,1,2197	68	68	68		819	-3.9	1	16		68	0,8594		0,0,4297	no	coding-synonymous	DDX19A	NM_018332.3		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		273/479	70400563	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	55308							g.chr16:70400563C>T	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.819C>T	16.37:g.70400563C>T						DDX19A_ENST00000443119.2_Silent_p.S183S|DDX19A_ENST00000417604.2_Silent_p.S242S	p.S273S	NM_018332.3	NP_060802.1					9	982	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.819C>T	CCDS10889.1																																																																																				0.562	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		43	92	0	0	0	1	0	43	92					T	70400563	C	T	70400563	2	4	311	1	0	0	0	0	0	0	0	1	4346	639	23	1		1	DDX19A	16	70400563	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2536849	70400563	19954190	493	31567											
MARVELD3	91862	broad.mit.edu	37	chr16	71674814	71674814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgatcatgtacggcGccagcgtggtgctggccctg	14	12	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	ENST00000299952.4	+	3	1160	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	376	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597																																						ENST00000299952.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(1117-1119)Gcc>Acc		MARVEL domain containing 3							55	45	49					16																	71674814		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71674814G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1117G>A	16.37:g.71674814G>A	ENSP00000299952:p.Ala373Thr					PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	p.A373T	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN			3	1160	+		Ovarian(137;0.125)	376			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1117G>A	CCDS32478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.258367|2.258367	0.39896|0.39896	.|.	.|.	ENSG00000140832|ENSG00000040199	ENST00000299952|ENST00000299971	D|.	0.86769|.	-2.17|.	5.67|5.67	4.72|4.72	0.59763|0.59763	.|.	0.698477|.	0.14726|.	N|.	0.302056|.	T|T	0.72692|0.72692	0.3492|0.3492	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.31817|.	0.341|.	B|.	0.22386|.	0.039|.	T|T	0.75932|0.75932	-0.3143|-0.3143	9|5	0.49607|0.87932	T|D	0.09|0	-19.0497|-19.0497	12.383|12.383	0.55317|0.55317	0.0809:0.0:0.919:0.0|0.0809:0.0:0.919:0.0	.|.	373|.	Q96A59-2|.	.|.	T|C	373|790	ENSP00000299952:A373T|.	ENSP00000299952:A373T|ENSP00000299971:R790C	A|R	+|-	1|1	0|0	MARVELD3|PHLPP2	70232315|70232315	0.637000|0.637000	0.27216|0.27216	0.098000|0.098000	0.21074|0.21074	0.069000|0.069000	0.16628|0.16628	3.699000|3.699000	0.54778|0.54778	1.411000|1.411000	0.46957|0.46957	-0.136000|-0.136000	0.14681|0.14681	GCC|CGC		0.597	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		35	38	0	0	0	1	0	35	38					A	71674814	G	A	71674814	3	1	311	1	0	0	0	0	1	0	0	0	9319	1087	38	1	1742	1	MARVELD3	16	71674814	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1274251	71674814	18679939	494	31568											
DHX38	9785	broad.mit.edu	37	chr16	72130788	72130788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgaagagttttgggaaCgcagtcggcagagagagcgg	18	6	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	ENST00000268482.3	+	3	900	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	131					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)				GTTTTGGGAACGCAGTCGGCA	0.547																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(391-393)Cgc>Tgc		DEAH (Asp-Glu-Ala-His) box polypeptide 38							181	184	183					16																	72130788		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130788C>T	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.391C>T	16.37:g.72130788C>T	ENSP00000268482:p.Arg131Cys					DHX38_ENST00000536867.1_Intron	p.R131C	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			3	900	+		Ovarian(137;0.125)	131					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.391C>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989043	0.74589	.	.	ENSG00000140829	ENST00000268482	T	0.03635	3.86	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.82517	2.595	0.80722	D	1	D	0.64830	0.994	P	0.44597	0.454	T	0.03354	-1.1045	10	0.87932	D	0	.	18.9235	0.92536	0.0:1.0:0.0:0.0	.	131	Q92620	PRP16_HUMAN	C	131	ENSP00000268482:R131C	ENSP00000268482:R131C	R	+	1	0	DHX38	70688289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.613000	0.54152	2.529000	0.85273	0.561000	0.74099	CGC		0.547	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		148	154	0	0	0	1	0	148	154					T	72130788	C	T	72130788	3	4	311	1	0	0	0	0	1	0	0	0	4511	536	19	1	397	1	DHX38	16	72130788	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	455974	72130788	18223965	495	31569											
DHX38	9785	broad.mit.edu	37	chr16	72133711	72133711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctactcctccgaggactaCgtgaggaggcgggagcagca	15	12	0	1	rs572107563		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	ENST00000268482.3	+	8	1550	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	347					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)				CCGAGGACTACGTGAGGAGGC	0.577											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		23397	0.0		0.0	False		,,,				2504	0.0				Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1039-1041)taC>taT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							80	64	69					16																	72133711		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72133711C>T	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.1041C>T	16.37:g.72133711C>T			OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	DHX38_ENST00000536867.1_Intron	p.Y347Y	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			8	1550	+		Ovarian(137;0.125)	347					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.1041C>T	CCDS10907.1																																																																																				0.577	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		31	19	0	0	0	1	0	31	19					T	72133711	C	T	72133711	2	4	311	1	0	0	0	0	0	0	0	1	4511	547	19	1		1	DHX38	16	72133711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2923	72133711	18221042	496	31570											
ATMIN	23300	broad.mit.edu	37	chr16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	TG	-													agaaaaggaaaatggaaaacTgtgcacaaaaccagaagtta							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	ENST00000299575.4	+	4	721_722	c.697_698delTG	c.(697-699)tgtfs	p.C233fs	ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000566488.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	233	Required for formation of RAD51 foci.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(229-231)tfs		ATM interactor				12,4252		4,4,2124						5.8	0.8			93	8,8246		4,0,4123	no	frameshift	ATMIN	NM_015251.2		8,4,6247	A1A1,A1R,RR		0.0969,0.2814,0.1598				20,12498				SO:0001589	frameshift_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81076800_81076801delTG	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.697_698delTG	16.37:g.81076802_81076803delTG	ENSP00000299575:p.Cys233fs					ATMIN_ENST00000299575.4_Frame_Shift_Del_p.C233fs|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR	p.C77fs			O43313	ATMIN_HUMAN			3	1192_1193	+			233					A8K4H8|Q68DC9	Frame_Shift_Del	DEL	ENST00000299575.4	37	c.229_230delTG	CCDS32494.1																																																																																				0.376	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		22	70						22	70	---	---	---	---	-	81076801	TG	-	81076800	7	5	311	1	0	1	0	1	0	0	0	0	1110	1580	55	0	711	0	ATMIN	16	81076800	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	8943089	81076800	9277953	497	31571											
CDT1	353	broad.mit.edu	37	chr16	88873762	88873762	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcagcggctgcagcGcttagaacggctgcctgagc	16	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.R450H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						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)	CGGCTGCAGCGCTTAGAACGG	0.657																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1348-1350)cGc>cAc		chromatin licensing and DNA replication factor 1							25	28	27					16																	88873762		2191	4287	6478	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88873762G>A		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			16.37:g.88873762G>A							p.R450H	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	1968	+			450					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1349G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154996	0.38021	.	.	ENSG00000167513	ENST00000301019	T	0.78595	-1.19	5.48	-0.491	0.12045	.	0.285757	0.35677	N	0.003059	T	0.74152	0.3679	M	0.72118	2.19	0.09310	N	1	D	0.59357	0.985	P	0.51016	0.656	T	0.63686	-0.6581	10	0.34782	T	0.22	.	1.9783	0.03421	0.2173:0.086:0.3626:0.334	.	450	Q9H211	CDT1_HUMAN	H	450	ENSP00000301019:R450H	ENSP00000301019:R450H	R	+	2	0	CDT1	87401263	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	2.218000	0.42889	0.033000	0.15463	-0.251000	0.11542	CGC		0.657	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		34	41	0	0	0	1	0	34	41					A	88873762	G	A	88873762	1	1	311	0	1	0	0	0	0	0	0	0	3180	1087	38	1		1	CDT1	16	88873762	IGR	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7796962	88873762	1480991	498	31572											
CBFA2T3	863	broad.mit.edu	37	chr16	88958664	88958664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcaccaccaggcccagCaccagtgtgcgcacgcgctc	9	19	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V|CBFA2T3_ENST00000448839.1_Silent_p.V127V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				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)	p.V203V(1)		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)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		1	Substitution - coding silent(1)	p.V203V(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(607-609)gtG>gtA		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							41	43	42					16																	88958664		2198	4298	6496	SO:0001819	synonymous_variant	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88958664C>T	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.609G>A	16.37:g.88958664C>T						CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V	p.V203V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	4	1005	-			203			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	ENST00000268679.4	37	c.609G>A	CCDS10972.1																																																																																				0.627	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		20	63	0	0	0	1	0	20	63					T	88958664	C	T	88958664	2	4	311	1	0	0	0	0	0	0	0	1	2698	697	25	2		2	CBFA2T3	16	88958664	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	84902	88958664	1396089	499	31573											
CDH15	1013	broad.mit.edu	37	chr16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttccaggagaacccacttCggaccagcctagcagagggg	13	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	ENST00000289746.2	+	8	1206	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4. {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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1141-1143)Cgg>Tgg		cadherin 15, type 1, M-cadherin (myotubule)							31	31	31					16																	89256813		2196	4298	6494	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256813C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1141C>T	16.37:g.89256813C>T	ENSP00000289746:p.Arg381Trp						p.R381W	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1206	+			381			Cadherin 4.			Missense_Mutation	SNP	ENST00000289746.2	37	c.1141C>T	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080648	0.36758	.	.	ENSG00000129910	ENST00000289746	T	0.61627	0.09	4.37	1.02	0.19986	Cadherin (2);Cadherin-like (1);	0.332761	0.20912	U	0.083451	T	0.69324	0.3098	M	0.77103	2.36	0.09310	N	0.999999	D	0.89917	1.0	D	0.66351	0.943	T	0.59495	-0.7444	10	0.39692	T	0.17	.	8.5349	0.33357	0.5745:0.2912:0.1342:0.0	.	381	P55291	CAD15_HUMAN	W	381	ENSP00000289746:R381W	ENSP00000289746:R381W	R	+	1	2	CDH15	87784314	0.000000	0.05858	0.983000	0.44433	0.518000	0.34316	-1.255000	0.02872	-0.061000	0.13110	0.555000	0.69702	CGG		0.687	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		6	27	0	0	0	1	0	6	27					T	89256813	C	T	89256813	3	4	311	1	0	0	0	0	1	0	0	0	3100	875	31	1	1171	1	CDH15	16	89256813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	298149	89256813	1097940	500	31574											
ANKRD11	29123	broad.mit.edu	37	chr16	89347172	89347172	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaggtagctgggctcCggggggatgatggcggccgt	20	10	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	ENST00000301030.4	-	9	6238	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_ENST00000378330.2_Silent_p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1926	Pro-rich.				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)		AGCTGGGCTCCGGGGGGATGA	0.711																																						ENST00000301030.4																			0				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						c.(5776-5778)ccG>ccA		ankyrin repeat domain 11							21	26	25					16																	89347172		2071	4093	6164	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347172C>T	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.5778G>A	16.37:g.89347172C>T						ANKRD11_ENST00000378330.2_Silent_p.P1926P	p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		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)	9	6238	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1926			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5778G>A	CCDS32513.1																																																																																				0.711	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	101	0	0	0	1	0	10	101					T	89347172	C	T	89347172	2	4	311	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89347172	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	90359	89347172	1007581	501	31575											
SPG7	6687	broad.mit.edu	37	chr16	89614459	89614459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgctgcacgcggcgcGggagggacacacttccgtgc	17	14	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	ENST00000268704.2	+	12	1616	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	534					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)		CACGCGGCGCGGGAGGGACAC	0.642																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1600-1602)cGg>cAg		spastic paraplegia 7 (pure and complicated autosomal recessive)							116	109	111					16																	89614459		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89614459G>A	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.1601G>A	16.37:g.89614459G>A	ENSP00000268704:p.Arg534Gln						p.R534Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	12	1616	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	534					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1601G>A	CCDS10977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.756538|4.756538	0.89843|0.89843	.|.	.|.	ENSG00000197912|ENSG00000197912	ENST00000312613|ENST00000268704	.|D	.|0.95171	.|-3.63	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Peptidase M41, FtsH (2);	.|0.090008	.|0.85682	.|D	.|0.000000	D|D	0.97399|0.97399	0.9149|0.9149	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58130	.|0.833	D|D	0.98039|0.98039	1.0381|1.0381	6|10	0.87932|0.87932	D|D	0|0	-19.4315|-19.4315	19.3041|19.3041	0.94153|0.94153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|534	.|Q9UQ90	.|SPG7_HUMAN	R|Q	9|534	.|ENSP00000268704:R534Q	ENSP00000310320:G9R|ENSP00000268704:R534Q	G|R	+|+	1|2	0|0	SPG7|SPG7	88141960|88141960	1.000000|1.000000	0.71417|0.71417	0.767000|0.767000	0.31495|0.31495	0.030000|0.030000	0.12068|0.12068	9.472000|9.472000	0.97709|0.97709	2.570000|2.570000	0.86706|0.86706	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.642	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		49	221	0	0	0	1	0	49	221					A	89614459	G	A	89614459	3	1	311	1	0	0	0	0	1	0	0	0	15043	1116	39	1	1797	1	SPG7	16	89614459	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267287	89614459	740294	502	31576											
SGSM2	9905	broad.mit.edu	37	chr17	2265510	2265510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtatgggtacgcacggCgctcatcgagaaagttctgg	13	10	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	ENST00000426855.2	+	4	579	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V|SGSM2_ENST00000268989.3_Missense_Mutation_p.A135V	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	135	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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)		GTACGCACGGCGCTCATCGAG	0.637																																						ENST00000268989.3																			0				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						c.(403-405)gCg>gTg		small G protein signaling modulator 2							88	89	89					17																	2265510		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2265510C>T	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.404C>T	17.37:g.2265510C>T	ENSP00000415107:p.Ala135Val					SGSM2_ENST00000426855.2_Missense_Mutation_p.A135V|SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V|SGSM2_ENST00000574650.1_3'UTR	p.A135V	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	4	581	+			135			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.404C>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965340	0.74131	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.43294	0.95;0.95	4.67	4.67	0.58626	RUN (3);	0.000000	0.85682	D	0.000000	T	0.66327	0.2778	M	0.85777	2.775	0.80722	D	1	D;D;P	0.71674	0.998;0.978;0.921	P;P;B	0.61874	0.895;0.855;0.215	T	0.74191	-0.3745	10	0.87932	D	0	-11.4296	16.9348	0.86200	0.0:1.0:0.0:0.0	.	135;135;135	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	V	135	ENSP00000268989:A135V;ENSP00000415107:A135V	ENSP00000268989:A135V	A	+	2	0	SGSM2	2212260	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.763000	0.85283	2.309000	0.77851	0.205000	0.17691	GCG		0.637	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		46	149	0	0	0	1	0	46	149					T	2265510	C	T	2265510	3	4	311	1	0	0	0	0	1	0	0	0	14223	768	27	1	418	1	SGSM2	17	2265510	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2265510	78929700	503	31577											
OR1D2	4991	broad.mit.edu	37	chr17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagatgtagtggatttttCgtgacccacagaaggtcact	11	7	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	ENST00000331459.1	-	1	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	172					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|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)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(514-516)cGa>cAa		olfactory receptor, family 1, subfamily D, member 2							96	89	91					17																	2995776		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995776C>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.515G>A	17.37:g.2995776C>T	ENSP00000327585:p.Arg172Gln						p.R172Q	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	514	-			172					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.515G>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	6.499	0.460218	0.12342	.	.	ENSG00000184166	ENST00000331459	T	0.00044	8.83	3.21	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.21373	0.66	0.09310	N	1	B	0.22683	0.073	B	0.20184	0.028	T	0.02519	-1.1147	9	0.29301	T	0.29	.	8.9605	0.35845	0.0:0.8836:0.0:0.1164	.	172	P34982	OR1D2_HUMAN	Q	172	ENSP00000327585:R172Q	ENSP00000327585:R172Q	R	-	2	0	OR1D2	2942526	0.000000	0.05858	0.062000	0.19696	0.128000	0.20619	0.121000	0.15667	0.537000	0.28751	0.543000	0.68304	CGA		0.468	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		52	17	0	0	0	1	0	52	17					T	2995776	C	T	2995776	3	4	311	1	0	0	0	0	1	0	0	0	10953	884	31	1	426	1	OR1D2	17	2995776	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	730266	2995776	78199434	504	31578											
ZZEF1	23140	broad.mit.edu	37	chr17	3999984	3999984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctggtttttccagtttcCgtaagaaaacctgaaaaaag	8	8	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	ENST00000381638.2	-	10	1807	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	561							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(1681-1683)acG>acA		zinc finger, ZZ-type with EF-hand domain 1							75	82	80					17																	3999984		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3999984C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1683G>A	17.37:g.3999984C>T						ZZEF1_ENST00000574474.1_5'UTR	p.T561T	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			10	1807	-			561					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.1683G>A	CCDS11043.1																																																																																				0.368	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		89	27	0	0	0	1	0	89	27					T	3999984	C	T	3999984	2	4	311	1	0	0	0	0	0	0	0	1	18252	639	23	1		1	ZZEF1	17	3999984	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1004208	3999984	77195226	505	31579											
GGT6	124975	broad.mit.edu	37	chr17	4461802	4461802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcagggatgggcgccccGgagcgcagggctgcctccaa	18	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	ENST00000574154.1	-	4	1286	c.990C>T	c.(988-990)tcC>tcT	p.S330S	GGT6_ENST00000301395.3_Silent_p.S298S|GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000573591.1_Silent_p.S182S|MYBBP1A_ENST00000254718.4_5'Flank			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	330					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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(892-894)tcC>tcT		gamma-glutamyltransferase 6							15	17	16					17																	4461802		2195	4293	6488	SO:0001819	synonymous_variant	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461802G>A	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"Gamma-glutamyltransferases"	26891	protein-coding gene	gene with protein product		612341	"gamma-glutamyltransferase 6 homolog (rat)"			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.990C>T	17.37:g.4461802G>A						GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000574154.1_Silent_p.S330S|GGT6_ENST00000573591.1_Silent_p.S182S	p.S298S	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			3	953	-			330					B4DUH4|Q8NCM0	Silent	SNP	ENST00000574154.1	37	c.894C>T	CCDS45582.1																																																																																				0.692	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		3	13	0	0	0	1	0	3	13					A	4461802	G	A	4461802	2	1	311	1	0	0	0	0	0	0	0	1	6363	1103	39	1		1	GGT6	17	4461802	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	461818	4461802	76733408	506	31580											
CHRNE	1145	broad.mit.edu	37	chr17	4804399	4804399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgagcgagtagatgaCgtcagtctcccctgggccgt	14	10	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	ENST00000293780.4	-	7	698	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	230					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.V230F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GAGTAGATGACGTCAGTCTCC	0.652																																						ENST00000293780.4																			1	Substitution - Missense(1)	p.V230F(1)	lung(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12	GRCh37	CI991991	CHRNE	I		c.(688-690)Gtc>Atc		cholinergic receptor, nicotinic, epsilon (muscle)							82	89	87					17																	4804399		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4804399C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.688G>A	17.37:g.4804399C>T	ENSP00000293780:p.Val230Ile					C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	p.V230I	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			7	698	-			230					D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.688G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377556	0.24944	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.86	0.51	0.16983	Neurotransmitter-gated ion-channel ligand-binding (3);	0.257039	0.37530	N	0.002045	T	0.43055	0.1230	N	0.03948	-0.315	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.40194	-0.9576	10	0.02654	T	1	.	3.3657	0.07202	0.3062:0.4339:0.0:0.26	.	230	Q04844	ACHE_HUMAN	I	230	ENSP00000293780:V230I	ENSP00000293780:V230I	V	-	1	0	CHRNE	4745178	0.003000	0.15002	0.707000	0.30419	0.835000	0.47333	0.005000	0.13129	0.248000	0.21435	0.655000	0.94253	GTC		0.652	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			114	62	0	0	0	1	0	114	62					T	4804399	C	T	4804399	3	4	311	1	0	0	0	0	1	0	0	0	3395	536	19	1	817	1	CHRNE	17	4804399	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342597	4804399	76390811	507	31581											
GPS2	2874	broad.mit.edu	37	chr17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	AGTG	-													agctggctgtgtgggcccatAgtgaggtgggggctgagcag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	ENST00000380728.2	-	7	886_889	c.586_589delCACT	c.(586-591)cactatfs	p.HY196fs	GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	196					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)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380728.2																			0				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						c.(586-591)atfs		G protein pathway suppressor 2																																				SO:0001589	frameshift_variant	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216932_7216935delAGTG	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.586_589delCACT	17.37:g.7216932_7216935delAGTG	ENSP00000370104:p.His196fs		OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR	p.HY196fs			Q13227	GPS2_HUMAN			7	886_889	-		Prostate(122;0.157)	196					B4DXA1|Q6FHM8	Frame_Shift_Del	DEL	ENST00000380728.2	37	c.586_589delCACT	CCDS11100.1																																																																																				0.574	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		103	38						103	38	---	---	---	---	-	7216935	AGTG	-	7216932	7	5	311	1	0	1	0	1	0	0	0	0	6733	420	15	0	414	0	GPS2	17	7216932	Frame_Shift_Del	DEL	AGTG	TCGA-HT-8564-01A-11D-2395-08	2412533	7216932	73978278	508	31582											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	6	15	1	1	rs587780075		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	ENST00000269305.4	-	8	989	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R267Q|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000455263.2_Missense_Mutation_p.R267Q	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAAGCTGTTCCGTCCCAGTAG	0.527		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(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	GRCh37	CM921040	TP53	M		c.(799-801)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>T	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.800G>A	17.37:g.7577138C>T	ENSP00000269305:p.Arg267Gln	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q|TP53_ENST00000455263.2_Missense_Mutation_p.R267Q|TP53_ENST00000269305.4_Missense_Mutation_p.R267Q	p.R267Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	932	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.800G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525610	0.85600	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99789	0.9911	M	0.82630	2.6	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;0.997;1.0;0.999	D;P;D;D	0.77557	0.973;0.908;0.99;0.984	D	0.97972	1.0344	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Q	267;267;267;267;267;256;135	ENSP00000352610:R267Q;ENSP00000269305:R267Q;ENSP00000398846:R267Q;ENSP00000391127:R267Q;ENSP00000391478:R267Q;ENSP00000425104:R135Q	ENSP00000269305:R267Q	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	14	0	0	0	1	0	40	14					T	7577138	C	T	7577138	3	4	311	1	0	0	0	0	1	0	0	0	16378	652	23	1	486	1	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	360206	7577138	73618072	509	31583											
TP53	7157	broad.mit.edu	37	chr17	7578463	7578463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggccatggcgcggacgCgggtgccgggcgggggtgtg	23	9	0	1	rs371524413		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	ENST00000269305.4	-	5	656	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R156H|TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000420246.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000455263.2_Missense_Mutation_p.R156H	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	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)	GGCGCGGACGCGGGTGCCGGG	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		72	Substitution - Missense(37)|Deletion - In frame(11)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(1)	p.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(1)	breast(9)|lung(8)|ovary(8)|stomach(7)|upper_aerodigestive_tract(6)|large_intestine(5)|skin(5)|bone(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|kidney(2)|liver(2)|oesophagus(2)|biliary_tract(1)|prostate(1)|pancreas(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	GRCh37	CM984589	TP53	M		c.(466-468)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50	52	51		467,467,467,467,71,71,71	3.5	0	17		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	29,29,29,29,29,29,29	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	156/394,156/394,156/347,156/342,24/262,24/210,24/215	7578463	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578463C>T	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.467G>A	17.37:g.7578463C>T	ENSP00000269305:p.Arg156His	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)				TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000445888.2_Missense_Mutation_p.R156H|TP53_ENST00000455263.2_Missense_Mutation_p.R156H|TP53_ENST00000269305.4_Missense_Mutation_p.R156H	p.R156H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	599	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.467G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488046	0.44249	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	5.47	3.45	0.39498	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.99515	0.9827	L	0.61036	1.89	0.09310	N	1	D;D;B;D;D;D;D	0.89917	1.0;0.987;0.122;0.998;0.981;0.999;1.0	D;P;B;D;P;D;P	0.70487	0.969;0.802;0.027;0.92;0.826;0.914;0.897	D	0.98939	1.0790	10	0.72032	D	0.01	-1.0137	6.8349	0.23931	0.3112:0.607:0.0:0.0817	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156H;ENSP00000352610:R156H;ENSP00000269305:R156H;ENSP00000398846:R156H;ENSP00000391127:R156H;ENSP00000391478:R156H;ENSP00000425104:R24H;ENSP00000423862:R63H;ENSP00000424104:R156H	ENSP00000269305:R156H	R	-	2	0	TP53	7519188	0.333000	0.24731	0.002000	0.10522	0.138000	0.21146	4.631000	0.61304	0.779000	0.33543	0.563000	0.77884	CGC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		72	24	0	0	0	1	0	72	24					T	7578463	C	T	7578463	3	4	311	1	0	0	0	0	1	0	0	0	16378	768	27	1	831	1	TP53	17	7578463	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1325	7578463	73616747	510	31584											
KCNAB3	9196	broad.mit.edu	37	chr17	7829255	7829255	+	Frame_Shift_Del	DEL	C	C	-													gggcagccacttactgtcctCcccaaaaaatcttggtagtg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	ENST00000303790.2	-	6	487	c.488delG	c.(487-489)ggafs	p.G164fs	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	164					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(487-489)gafs		potassium voltage-gated channel, shaker-related subfamily, beta member 3							123	119	120					17																	7829255		2203	4300	6503	SO:0001589	frameshift_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7829255delC	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.488delG	17.37:g.7829255delC	ENSP00000302719:p.Gly164fs					RP11-1099M24.7_ENST00000573621.1_3'UTR	p.G164fs	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			6	487	-		Prostate(122;0.157)	164					Q4VAW0	Frame_Shift_Del	DEL	ENST00000303790.2	37	c.488delG	CCDS11124.1																																																																																				0.498	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		10	201						10	201	---	---	---	---	-	7829255	C	-	7829255	7	5	311	1	0	1	0	1	0	0	0	0	8011	855	30	0	762	0	KCNAB3	17	7829255	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	250792	7829255	73365955	511	31585											
PFAS	5198	broad.mit.edu	37	chr17	8167651	8167651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgggcaagatgcctcGgaaggtatgtggggttgagg	20	5	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	ENST00000314666.6	+	16	2046	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	638					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1912-1914)cGg>cAg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						38	41	40					17																	8167651		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8167651G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1913G>A	17.37:g.8167651G>A	ENSP00000313490:p.Arg638Gln					PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	p.R638Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			16	2046	+			638					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1913G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	4.057	0.008330	0.07912	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.29655	1.56;1.56	5.75	-4.33	0.03677	AIR synthase-related protein, C-terminal (1);	0.431426	0.25494	N	0.030292	T	0.16514	0.0397	N	0.20574	0.59	0.32367	N	0.556407	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.04017	-1.0984	10	0.46703	T	0.11	-3.2748	12.2926	0.54827	0.5756:0.0:0.4244:0.0	.	214;638	F5GWT9;O15067	.;PUR4_HUMAN	Q	214;638;47	ENSP00000441706:R214Q;ENSP00000313490:R638Q	ENSP00000313490:R638Q	R	+	2	0	PFAS	8108376	0.002000	0.14202	0.964000	0.40570	0.192000	0.23643	-0.001000	0.12947	-0.772000	0.04602	-0.253000	0.11424	CGG		0.622	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			48	11	0	0	0	1	0	48	11					A	8167651	G	A	8167651	3	1	311	1	0	0	0	0	1	0	0	0	11754	1116	39	1	1971	1	PFAS	17	8167651	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338396	8167651	73027559	512	31586											
MYH8	4626	broad.mit.edu	37	chr17	10299869	10299869	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggactgtgaggactcaCgttgcaagttcttattttct	12	7	3	1	rs556513030		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	ENST00000403437.2	-	32	4623		c.e32+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						TGAGGACTCACGTTGCAAGTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.e32+1		myosin, heavy chain 8, skeletal muscle, perinatal							79	80	80					17																	10299869		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299869C>T		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.4528+1G>A	17.37:g.10299869C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA		NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			32	4623	-								Q14910	Splice_Site	SNP	ENST00000403437.2	37		CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502604	0.85176	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0697	0.93127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10240594	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.525000	0.81892	2.744000	0.94065	0.650000	0.86243	.		0.463	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Intron	33	14	0	0	0	1	0	33	14					T	10299869	C	T	10299869	5	4	311	1	0	0	0	0	0	0	1	0	10041	550	19	1	1320	1	MYH8	17	10299869	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2132218	10299869	70895341	513	31587											
DNAH9	1770	broad.mit.edu	37	chr17	11660881	11660881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcttgtacatcaacccGgcagacttgggatggaaccc	12	11	2	1	rs200875814		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	ENST00000262442.4	+	35	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_ENST00000454412.2_Silent_p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2289	AAA 2. {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)		ACATCAACCCGGCAGACTTGG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20114	0.001		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				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						c.(6865-6867)ccG>ccA		dynein, axonemal, heavy chain 9		G		1,4405	2.1+/-5.4	0,1,2202	88	84	85		6867	-10.5	0.4	17		85	0,8600		0,0,4300	no	coding-synonymous	DNAH9	NM_001372.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2289/4487	11660881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11660881G>A	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.6867G>A	17.37:g.11660881G>A						DNAH9_ENST00000454412.2_Silent_p.P2289P	p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	35	6935	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2289			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.6867G>A	CCDS11160.1																																																																																				0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		16	62	0	0	0	1	0	16	62					A	11660881	G	A	11660881	2	1	311	1	0	0	0	0	0	0	0	1	4608	1103	39	1		1	DNAH9	17	11660881	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1361012	11660881	69534329	514	31588											
DNAH9	1770	broad.mit.edu	37	chr17	11711063	11711063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttagctgccatatcaatcGcatcttggagtccccgcggg	10	13	2	0	rs371741808		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	ENST00000262442.4	+	44	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2812	AAA 4. {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)		CATATCAATCGCATCTTGGAG	0.532																																						ENST00000262442.3																			0				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						c.(8434-8436)cGc>cAc		dynein, axonemal, heavy chain 9		G	HIS/ARG	0,4406		0,0,2203	99	89	92		8435	5.5	1	17		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH9	NM_001372.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2812/4487	11711063	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11711063G>A	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.8435G>A	17.37:g.11711063G>A	ENSP00000262442:p.Arg2812His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	44	8503	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2812			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8435G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130148	0.94473	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.57273	0.41;0.41	5.52	5.52	0.82312	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	H	0.99939	4.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93322	0.6693	10	0.87932	D	0	.	19.4865	0.95030	0.0:0.0:1.0:0.0	.	2812	Q9NYC9	DYH9_HUMAN	H	2812;2812;1394	ENSP00000262442:R2812H;ENSP00000414874:R2812H	ENSP00000262442:R2812H	R	+	2	0	DNAH9	11651788	1.000000	0.71417	0.985000	0.45067	0.853000	0.48598	9.813000	0.99286	2.605000	0.88082	0.644000	0.83932	CGC		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	111	0	0	0	1	0	8	111					A	11711063	G	A	11711063	3	1	311	1	0	0	0	0	1	0	0	0	4608	1087	38	1	8609	1	DNAH9	17	11711063	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	50182	11711063	69484147	515	31589											
TRPV2	51393	broad.mit.edu	37	chr17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgtgatgctgaccGttggcactaagccagatggc	16	9	0	3	rs543529432		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20748	0.0		0.0	False		,,,				2504	0.0					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(2068-2070)Gtt>Att		transient receptor potential cation channel, subfamily V, member 2							140	121	127					17																	16336966		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16336966G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2068G>A	17.37:g.16336966G>A	ENSP00000342222:p.Val690Ile					TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	p.V690I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	13	2467	+			690					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.2068G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846704	0.32606	.	.	ENSG00000187688	ENST00000338560	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.058083	0.64402	D	0.000002	D	0.86322	0.5905	L	0.32530	0.975	0.54753	D	0.999981	P	0.34815	0.47	B	0.33521	0.165	D	0.84716	0.0737	10	0.36615	T	0.2	-24.5954	17.5351	0.87827	0.0:0.0:1.0:0.0	.	690	Q9Y5S1	TRPV2_HUMAN	I	690	ENSP00000342222:V690I	ENSP00000342222:V690I	V	+	1	0	TRPV2	16277691	1.000000	0.71417	0.182000	0.23118	0.116000	0.19942	5.992000	0.70609	2.751000	0.94390	0.650000	0.86243	GTT		0.592	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		39	145	0	0	0	1	0	39	145					A	16336966	G	A	16336966	3	1	311	1	0	0	0	0	1	0	0	0	16593	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4625903	16336966	64858244	516	31590											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-													ctctcaccttggccgggctcGgggggtatctgaccttcagg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	ENST00000457500.2	-	9	1663	c.1334delC	c.(1333-1335)ccgfs	p.P445fs	ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs|ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	445					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GGCCGGGCTCGGGGGGTATCT	0.627																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1333-1335)cgfs		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						57	64	62					17																	19641649		2203	4300	6503	SO:0001589	frameshift_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19641649delG	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1334delC	17.37:g.19641649delG	ENSP00000411821:p.Pro445fs					ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs|ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs	p.P445fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	9	1663	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		445					A8K828|Q9BT37	Frame_Shift_Del	DEL	ENST00000457500.2	37	c.1334delC	CCDS11212.1																																																																																				0.627	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		139	68						139	68	---	---	---	---	-	19641649	G	-	19641649	7	5	311	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	3304683	19641649	61553561	517	31591											
KCNJ12	3768	broad.mit.edu	37	chr17	21319341	21319341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtggaggcccatgtgcgCgcgcagctcatcaagccgcg	14	13	2	0	rs569037483	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	229					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCATGTGCGCGCGCAGCTCA	0.642										Prostate(3;0.18)			.|||	4	0.000798722	0.0	0.0	5008	,	,		38914	0.004		0.0	False		,,,				2504	0.0					ENST00000583088.1																			2	Substitution - coding silent(2)	p.R229R(2)	breast(1)|endometrium(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(685-687)cgC>cgT		potassium inwardly-rectifying channel, subfamily J, member 12							87	70	76					17																	21319341		2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319341C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.687C>T	17.37:g.21319341C>T		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.R229R	p.R229R	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1582	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.687C>T	CCDS11219.1																																																																																				0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		28	65	0	0	0	1	0	28	65					T	21319341	C	T	21319341	2	4	311	1	0	0	0	0	0	0	0	1	8046	755	27	1		1	KCNJ12	17	21319341	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1677692	21319341	59875869	518	31592											
NEK8	284086	broad.mit.edu	37	chr17	27065189	27065189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccccagttcatctcgcGtttcctggagggccagtcgg	12	14	2	0	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	ENST00000268766.6	+	8	1182	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	383					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1147-1149)cGt>cAt		NIMA-related kinase 8		G	HIS/ARG	0,4406		0,0,2203	92	74	80		1148	5.7	1	17	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NEK8	NM_178170.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	383/693	27065189	1,13005	2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27065189G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1148G>A	17.37:g.27065189G>A	ENSP00000268766:p.Arg383His					AC010761.6_ENST00000584779.1_RNA	p.R383H	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			8	1182	+	Lung NSC(42;0.0158)		383					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1148G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	36	5.647273	0.96714	0.0	1.16E-4	ENSG00000160602	ENST00000268766	T	0.80304	-1.36	5.69	5.69	0.88448	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90731	0.7091	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.91676	0.5354	10	0.87932	D	0	.	18.8035	0.92028	0.0:0.0:1.0:0.0	.	383	Q86SG6	NEK8_HUMAN	H	383	ENSP00000268766:R383H	ENSP00000268766:R383H	R	+	2	0	NEK8	24089316	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.185000	0.94900	2.699000	0.92147	0.655000	0.94253	CGT		0.657	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			18	51	0	0	0	1	0	18	51					A	27065189	G	A	27065189	3	1	311	1	0	0	0	0	1	0	0	0	10330	1145	40	1	1178	1	NEK8	17	27065189	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5745848	27065189	54130021	519	31593											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													agctcgagttctggttactcTgtttgattctcggcatttac							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	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.?(4)|p.F1247fs*16(1)	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)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	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	GRCh37	CD000973|CD972354	NF1	D		c.(3736-3741)ctfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562657_29562660delTGTT		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.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	28	4120_4123	+		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)	1246			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3737_3740delTGTT	CCDS42292.1																																																																																				0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		236	87						236	87	---	---	---	---	-	29562660	TGTT	-	29562657	7	5	311	1	0	1	0	1	0	0	0	0	10356	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-8564-01A-11D-2395-08	2497468	29562657	51632553	520	31594											
FBXL20	84961	broad.mit.edu	37	chr17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	AT	-													cgtgtgatttgctggcagtcAtagagttctatccgctcaag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	ENST00000264658.6	-	14	1420_1421	c.1160_1161delAT	c.(1159-1161)tatfs	p.Y387fs	FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	387					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.48																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1159-1161)tfs		F-box and leucine-rich repeat protein 20																																				SO:0001589	frameshift_variant	84961					cytoplasm		g.chr17:37420470_37420471delAT	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1160_1161delAT	17.37:g.37420470_37420471delAT	ENSP00000264658:p.Tyr387fs					FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs	p.Y387fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1420_1421	-			387					A8K729|Q38J52	Frame_Shift_Del	DEL	ENST00000264658.6	37	c.1160_1161delAT	CCDS32640.1																																																																																				0.48	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		166	77						166	77	---	---	---	---	-	37420471	AT	-	37420470	7	5	311	1	0	1	0	1	0	0	0	0	5717	224	8	0	157	0	FBXL20	17	37420470	Frame_Shift_Del	DEL	AT	TCGA-HT-8564-01A-11D-2395-08	7857813	37420470	43774740	521	31595											
ERBB2	2064	broad.mit.edu	37	chr17	37866098	37866098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgatgtgtaagggctccCgctgctggggagagagttct	15	10	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	ENST00000269571.5	+	5	766	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ERBB2_ENST00000406381.2_Missense_Mutation_p.R173C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	203					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)			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)	TAAGGGCTCCCGCTGCTGGGG	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"A, Mis, O"	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"			E			"breast, ovarian, other tumour types, NSCLC, gastric"		0				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						c.(517-519)Cgc>Tgc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						86	78	81					17																	37866098		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866098C>T	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.607C>T	17.37:g.37866098C>T	ENSP00000269571:p.Arg203Cys	TCGA GBM(5;<1E-08)				ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R203C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000445658.2_Intron	p.R173C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	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)	7	1027	+	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)	203					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.517C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687776	0.29962	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.08	-3.87	0.04218	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.81922	0.4925	L	0.52126	1.63	0.09310	N	1	P;P;D;D	0.89917	0.897;0.897;0.98;1.0	B;B;B;P	0.62813	0.354;0.354;0.159;0.907	T	0.69953	-0.5005	9	0.49607	T	0.09	.	1.4207	0.02311	0.2047:0.3703:0.2216:0.2034	.	173;188;203;203	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	C	173;188;203;173;173	ENSP00000385185:R173C;ENSP00000446466:R188C;ENSP00000269571:R203C;ENSP00000443562:R173C;ENSP00000446382:R173C	ENSP00000269571:R203C	R	+	1	0	ERBB2	35119624	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	-0.290000	0.08354	-0.206000	0.10203	0.462000	0.41574	CGC		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			74	18	0	0	0	1	0	74	18					T	37866098	C	T	37866098	3	4	311	1	0	0	0	0	1	0	0	0	5206	652	23	1	625	1	ERBB2	17	37866098	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	445628	37866098	43329112	522	31596											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274307	39274307	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatagactggcagcactgGggcttgcagcagctggacac	13	12	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:39274307G>T	ENST00000391413.2	-	1	299	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	87	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCAGCACTGGGGCTTGCAGC	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(259-261)ccC>ccA		keratin associated protein 4-11							5	10	8					17																	39274307		640	1535	2175	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274307G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.261C>A	17.37:g.39274307G>T							p.P87P	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	299	-		Breast(137;0.000496)	87			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.261C>A	CCDS45675.1																																																																																				0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			17	88	1	0	7.45023e-12	1	7.62735e-12	17	88					T	39274307	G	T	39274307	2	4	311	1	0	0	0	0	0	0	0	1	8549	1219	43	4		4	KRTAP4-11	17	39274307	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1408209	39274307	41920903	523	31597											
TUBG1	7283	broad.mit.edu	37	chr17	40766567	40766567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttggccaacttcatcccGtggggccccgccagcatcca	10	16	1	0	rs558170992		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	ENST00000251413.3	+	10	1112	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	350					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTTCATCCCGTGGGGCCCCG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16356	0.0		0.0	False		,,,				2504	0.0				Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1048-1050)ccG>ccA		tubulin, gamma 1							38	46	43					17																	40766567		2202	4292	6494	SO:0001819	synonymous_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766567G>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"Tubulins"	12417	protein-coding gene	gene with protein product		191135	"tubulin, gamma polypeptide"	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1050G>A	17.37:g.40766567G>A							p.P350P	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	10	1112	+		Breast(137;0.00116)	350					Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	c.1050G>A	CCDS11433.1																																																																																				0.652	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		108	25	0	0	0	1	0	108	25					A	40766567	G	A	40766567	2	1	311	1	0	0	0	0	0	0	0	1	16761	1132	40	1		1	TUBG1	17	40766567	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1492260	40766567	40428643	524	31598											
PLEKHH3	79990	broad.mit.edu	37	chr17	40820242	40820244	+	In_Frame_Del	DEL	GGA	GGA	-													tgtctggcaggtcttggcatGgaggagaagagctgctgcag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	ENST00000591022.1	-	13	2670_2672	c.2283_2285delTCC	c.(2281-2286)cctcca>cca	p.761_762PP>P	PLEKHH3_ENST00000412503.1_In_Frame_Del_p.584_585PP>P|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_In_Frame_Del_p.758_759PP>P	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	761					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)		GTCTTGGCATGGAGGAGAAGAGC	0.65																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(2272-2277)cca>cc		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3																																				SO:0001651	inframe_deletion	79990				signal transduction	cytoskeleton		g.chr17:40820242_40820244delGGA	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.2283_2285delTCC	17.37:g.40820245_40820247delGGA	ENSP00000468678:p.Pro762del					PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_In_Frame_Del_p.PP761del|PLEKHH3_ENST00000412503.1_In_Frame_Del_p.PP584del	p.PP758del			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	13	2704_2706	-		Breast(137;0.00116)	761			Poly-Ser.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	In_Frame_Del	DEL	ENST00000591022.1	37	c.2274_2276delTCC	CCDS11434.1																																																																																				0.65	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		40	15						40	15	---	---	---	---	-	40820244	GGA	-	40820242	7	5	311	1	0	1	0	1	0	0	0	0	12078	1348	47	0	100	0	PLEKHH3	17	40820242	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	53675	40820242	40374968	525	31599											
FMNL1	752	broad.mit.edu	37	chr17	43314943	43314943	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggagctgctggcGgccgtgtgcttggtgcgggg	21	9	0	0	rs373201342		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	ENST00000331495.3	+	9	1167	c.831G>T	c.(829-831)gcG>gcT	p.A277A	FMNL1_ENST00000328118.3_Silent_p.A277A|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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						AGCTGCTGGCGGCCGTGTGCT	0.607																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				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						c.(829-831)gcG>gcT		formin-like 1							135	132	133					17																	43314943		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43314943G>T	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.831G>T	17.37:g.43314943G>T						FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.A277A	p.A277A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			9	1167	+			277			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.831G>T	CCDS11497.1																																																																																				0.607	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		181	80	1	0	1.90661e-81	1	1.97246e-81	181	80					T	43314943	G	T	43314943	2	4	311	1	0	0	0	0	0	0	0	1	5951	1103	39	4		4	FMNL1	17	43314943	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2494701	43314943	37880267	526	31600											
ITGA3	3675	broad.mit.edu	37	chr17	48157736	48157736	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtggaacagcaccttcatCgaggtcagtgcctgggtctg	14	10	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	ENST00000320031.8	+	22	3147	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_ENST00000007722.7_Silent_p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	939					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2815-2817)atC>atT		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							105	73	84					17																	48157736		2203	4300	6503	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48157736C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2817C>T	17.37:g.48157736C>T						ITGA3_ENST00000007722.7_Silent_p.I939I	p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			22	3147	+			939					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2817C>T	CCDS11558.1																																																																																				0.602	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		11	30	0	0	0	1	0	11	30					T	48157736	C	T	48157736	2	4	311	1	0	0	0	0	0	0	0	1	7877	874	31	1		1	ITGA3	17	48157736	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4842793	48157736	33037474	527	31601											
EPN3	55040	broad.mit.edu	37	chr17	48616601	48616601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaatggtgcaggggcCgtggtccaccatcagcggga	16	11	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	ENST00000268933.3	+	5	1395	c.816C>T	c.(814-816)gcC>gcT	p.A272A	EPN3_ENST00000541226.1_Silent_p.A189A|EPN3_ENST00000537145.1_Silent_p.A300A|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	272						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(814-816)gcC>gcT		epsin 3							86	86	86					17																	48616601		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616601C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.816C>T	17.37:g.48616601C>T						EPN3_ENST00000541226.1_Silent_p.A189A|EPN3_ENST00000537145.1_Silent_p.A300A	p.A272A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1395	+	Breast(11;1.23e-18)		272					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.816C>T	CCDS11570.1																																																																																				0.607	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		73	24	0	0	0	1	0	73	24					T	48616601	C	T	48616601	2	4	311	1	0	0	0	0	0	0	0	1	5187	639	23	1		1	EPN3	17	48616601	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	458865	48616601	32578609	528	31602											
TMEM49	81671	broad.mit.edu	37	chr17	57842391	57842391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaattcagttaattttccCgaaccaccctatcctgatca	4	13	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:57842391C>T	ENST00000262291.4	+	6	784	c.474C>T	c.(472-474)ccC>ccT	p.P158P	VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000537567.1_Silent_p.P24P|VMP1_ENST00000536180.1_Silent_p.P61P	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	158					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTAATTTTCCCGAACCACCCT	0.368																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(472-474)ccC>ccT		vacuole membrane protein 1							122	118	119					17																	57842391		2203	4300	6503	SO:0001819	synonymous_variant	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842391C>T		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.474C>T	17.37:g.57842391C>T						VMP1_ENST00000537567.1_Silent_p.P24P|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000536180.1_Silent_p.P61P	p.P158P	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			6	784	+			158					B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	c.474C>T	CCDS11619.1																																																																																				0.368	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		20	83	0	0	0	1	0	20	83					T	57842391	C	T	57842391	2	4	311	1	0	0	0	0	0	0	0	1	16170	639	23	1		1	TMEM49	17	57842391	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9225790	57842391	23352819	529	31603											
USP32	84669	broad.mit.edu	37	chr17	58259033	58259033	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctttgctcctccccaaagtCcgtgggctgctattagggct	10	14	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	ENST00000300896.4	-	32	4394	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_ENST00000592339.1_Silent_p.R1070R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1400	USP.				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)			TCCCCAAAGTCCGTGGGCTGC	0.483																																						ENST00000300896.4																			0				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						c.(4198-4200)cgG>cgA		ubiquitin specific peptidase 32							16	18	18					17																	58259033		2201	4276	6477	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58259033C>T	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.4200G>A	17.37:g.58259033C>T						USP32_ENST00000592339.1_Silent_p.R1070R	p.R1400R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4394	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1400					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.4200G>A	CCDS32697.1																																																																																				0.483	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		16	56	0	0	0	1	0	16	56					T	58259033	C	T	58259033	2	4	311	1	0	0	0	0	0	0	0	1	17060	842	30	2		2	USP32	17	58259033	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	416642	58259033	22936177	530	31604											
ERN1	2081	broad.mit.edu	37	chr17	62144066	62144066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgtctccttggggaaCgggtacttccactttgtgat	11	11	2	1	rs183713088	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	ENST00000433197.3	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P	ERN1_ENST00000577567.1_5'Flank	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0					ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(805-807)ccG>ccA		endoplasmic reticulum to nucleus signaling 1		C		0,4176		0,0,2088	50	53	52		807	-11.1	0	17		52	1,8455		0,1,4227	no	coding-synonymous	ERN1	NM_001433.3		0,1,6315	TT,TC,CC		0.0118,0.0,0.0079		269/978	62144066	1,12631	2088	4228	6316	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62144066C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.807G>A	17.37:g.62144066C>T							p.P269P	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			8	902	-			269						Silent	SNP	ENST00000433197.3	37	c.807G>A	CCDS45762.1																																																																																				0.592	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		33	5	0	0	0	1	0	33	5					T	62144066	C	T	62144066	2	4	311	1	0	0	0	0	0	0	0	1	5237	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3885033	62144066	19051144	531	31605											
BTBD17	388419	broad.mit.edu	37	chr17	72353024	72353024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagctcacgcccgccgcGtcgccgccgctgctggccgg	15	18	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	ENST00000375366.3	-	3	1335	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	403					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771																																						ENST00000375366.3																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(1207-1209)gaC>gaT		BTB (POZ) domain containing 17							2	3	3					17																	72353024		1429	3031	4460	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72353024G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1209C>T	17.37:g.72353024G>A							p.D403D	NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN			3	1335	-			403						Silent	SNP	ENST00000375366.3	37	c.1209C>T	CCDS32719.1																																																																																				0.771	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		10	4	0	0	0	1	0	10	4					A	72353024	G	A	72353024	2	1	311	1	0	0	0	0	0	0	0	1	1542	1136	40	1		1	BTBD17	17	72353024	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10208958	72353024	8842186	532	31606											
BTBD17	388419	broad.mit.edu	37	chr17	72353354	72353354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgcagcggcgacgcggcGtggaactggtaggcctgcag	18	10	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	ENST00000375366.3	-	3	1005	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	293					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731																																						ENST00000375366.3																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(877-879)caC>caT		BTB (POZ) domain containing 17							8	10	10					17																	72353354		2134	4161	6295	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72353354G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.879C>T	17.37:g.72353354G>A							p.H293H	NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN			3	1005	-			293						Silent	SNP	ENST00000375366.3	37	c.879C>T	CCDS32719.1																																																																																				0.731	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		16	3	0	0	0	1	0	16	3					A	72353354	G	A	72353354	2	1	311	1	0	0	0	0	0	0	0	1	1542	1136	40	1		1	BTBD17	17	72353354	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	330	72353354	8841856	533	31607											
QRICH2	84074	broad.mit.edu	37	chr17	74289330	74289330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgatattacacatccaCgctgatccatgccaagtggt	8	12	0	2	rs151086130	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	ENST00000262765.5	-	4	1159	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	327										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498													C|||	5	0.000998403	0.0038	0.0	5008	,	,		27179	0.0		0.0	False		,,,				2504	0.0					ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(979-981)cGt>cAt		glutamine rich 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	209	173	185		980	-9.1	0	17	dbSNP_134	185	0,8600		0,0,4300	yes	missense	QRICH2	NM_032134.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	327/1664	74289330	1,13005	2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289330C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.980G>A	17.37:g.74289330C>T	ENSP00000262765:p.Arg327His						p.R327H	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1159	-			327					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.980G>A	CCDS32741.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.471	0.646703	0.14516	2.27E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.06933	3.24	4.54	-9.07	0.00724	.	.	.	.	.	T	0.01661	0.0053	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.001	T	0.41052	-0.9530	9	0.13853	T	0.58	1.8347	5.0037	0.14277	0.0829:0.1169:0.2681:0.5321	.	327;327	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	327	ENSP00000262765:R327H	ENSP00000262765:R327H	R	-	2	0	QRICH2	71800925	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.495000	0.00225	-2.468000	0.00531	-1.012000	0.02466	CGT		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		147	54	0	0	0	1	0	147	54					T	74289330	C	T	74289330	3	4	311	1	0	0	0	0	1	0	0	0	12880	536	19	1	4075	1	QRICH2	17	74289330	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1935976	74289330	6905880	534	31608											
MGAT5B	146664	broad.mit.edu	37	chr17	74878237	74878237	+	Frame_Shift_Del	DEL	G	G	-													cacactctgcccacagtgatGgggggccccgagtcccgcgg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	ENST00000569840.2	+	3	760	c.186delG	c.(184-186)atgfs	p.M62fs	MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	62					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(184-186)atfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							23	23	23					17																	74878237		2199	4282	6481	SO:0001589	frameshift_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74878237delG	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.186delG	17.37:g.74878237delG	ENSP00000456037:p.Met62fs					MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs	p.M62fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			3	760	+			62					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	ENST00000569840.2	37	c.186delG	CCDS59299.1																																																																																				0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		7	79						7	79	---	---	---	---	-	74878237	G	-	74878237	7	5	311	1	0	1	0	1	0	0	0	0	9549	1348	47	0	297	0	MGAT5B	17	74878237	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	588907	74878237	6316973	535	31609											
DNAH17	8632	broad.mit.edu	37	chr17	76558007	76558007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgactgaatacctgggcGccacctcggcaagaatcagg	12	12	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	ENST00000585328.1	-	12	1749	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_ENST00000389840.5_Missense_Mutation_p.A542V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	542	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATACCTGGGCGCCACCTCGGC	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1624-1626)gCg>gTg		dynein, axonemal, heavy chain 17							34	35	35					17																	76558007		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76558007G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1625C>T	17.37:g.76558007G>A	ENSP00000465516:p.Ala542Val					DNAH17_ENST00000585328.1_Missense_Mutation_p.A542V	p.A542V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		12	1749	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1625C>T		.	.	.	.	.	.	.	.	.	.	G	9.115	1.007525	0.19199	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55588	0.51	5.01	3.91	0.45181	.	0.566586	0.14274	N	0.329982	T	0.23249	0.0562	N	0.02916	-0.46	0.21020	N	0.99981	B	0.06786	0.001	B	0.04013	0.001	T	0.22906	-1.0203	10	0.11485	T	0.65	.	6.2489	0.20835	0.7524:0.0:0.2476:0.0	.	244	Q9UFH2-4	.	V	542	ENSP00000374490:A542V	ENSP00000300671:A542V	A	-	2	0	DNAH17	74069602	0.107000	0.21998	1.000000	0.80357	0.758000	0.43043	1.569000	0.36428	0.755000	0.32990	-0.427000	0.05922	GCG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		60	9	0	0	0	1	0	60	9					A	76558007	G	A	76558007	3	1	311	1	0	0	0	0	1	0	0	0	4601	1087	38	1	12043	1	DNAH17	17	76558007	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1679770	76558007	4637203	536	31610											
SLC38A10	124565	broad.mit.edu	37	chr17	79256073	79256073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttccgctgcaggctgagCgggagcacgatgcacagcga	15	11	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	ENST00000374759.3	-	5	800	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_ENST00000288439.5_Silent_p.P139P|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	139					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(415-417)ccG>ccA		solute carrier family 38, member 10							95	73	80					17																	79256073		2203	4300	6503	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79256073C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.417G>A	17.37:g.79256073C>T						SLC38A10_ENST00000288439.5_Silent_p.P139P	p.P139P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	800	-	all_neural(118;0.0804)|Melanoma(429;0.242)		139					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.417G>A	CCDS42397.1																																																																																				0.662	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		10	58	0	0	0	1	0	10	58					T	79256073	C	T	79256073	2	4	311	1	0	0	0	0	0	0	0	1	14602	755	27	1		1	SLC38A10	17	79256073	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2698066	79256073	1939137	537	31611											
HGS	9146	broad.mit.edu	37	chr17	79660715	79660717	+	In_Frame_Del	DEL	AGG	AGG	-													gagggacgagacggccctgcAggaggaggaggagctgcagc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	ENST00000329138.4	+	10	908_910	c.773_775delAGG	c.(772-777)caggag>cag	p.E262del		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	262	Interaction with SNX1. {ECO:0000250}.				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)			ACGGCCCTGCAGGAGGAGGAGGA	0.729																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(772-777)cag>c		hepatocyte growth factor-regulated tyrosine kinase substrate																																				SO:0001651	inframe_deletion	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79660715_79660717delAGG	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.773_775delAGG	17.37:g.79660724_79660726delAGG	ENSP00000331201:p.Glu262del						p.QE258del	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		10	908_910	+	all_neural(118;0.0878)|all_lung(278;0.23)		258			Interaction with SNX1 (By similarity).		Q9NR36	In_Frame_Del	DEL	ENST00000329138.4	37	c.773_775delAGG	CCDS11784.1																																																																																				0.729	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		6	5						6	5	---	---	---	---	-	79660717	AGG	-	79660715	7	5	311	1	0	1	0	1	0	0	0	0	7087	188	7	0	811	0	HGS	17	79660715	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	404642	79660715	1534495	538	31612											
EPB41L3	23136	broad.mit.edu	37	chr18	5423406	5423406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcgagacatggtataaCgtttgctggatgagcgttca	13	7	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	ENST00000341928.2	-	11	1650	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	437	Hydrophilic.				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						CATGGTATAACGTTTGCTGGA	0.478																																						ENST00000341928.2																			0				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						c.(1309-1311)cGt>cAt		erythrocyte membrane protein band 4.1-like 3							188	143	158					18																	5423406		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5423406C>T	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.1310G>A	18.37:g.5423406C>T	ENSP00000343158:p.Arg437His					EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			11	1650	-			437			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1310G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559070	0.96514	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D;D	0.89270	-2.49;-2.34;-2.49;-2.49;-2.49	6.08	6.08	0.98989	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.92268	3.29	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.999	D	0.96185	0.9133	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	437;328;437;437	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	H	437;328;437;328;437;437	ENSP00000343158:R437H;ENSP00000442091:R328H;ENSP00000441174:R437H;ENSP00000341138:R437H;ENSP00000382981:R437H	ENSP00000343158:R437H	R	-	2	0	EPB41L3	5413406	1.000000	0.71417	0.980000	0.43619	0.880000	0.50808	7.788000	0.85771	2.894000	0.99253	0.591000	0.81541	CGT		0.478	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		32	26	0	0	0	1	0	32	26					T	5423406	C	T	5423406	3	4	311	1	0	0	0	0	1	0	0	0	5154	536	19	1	2001	1	EPB41L3	18	5423406	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		5423406	72653842	539	31613											
NPC1	4864	broad.mit.edu	37	chr18	21114452	21114452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttccgcgcgctccacGcggctgcctttcatgctcac	9	19	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	ENST00000269228.5	-	23	4103	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_ENST00000412552.2_Silent_p.R865R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1183					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)					CGCGCTCCACGCGGCTGCCTT	0.587																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3547-3549)cgC>cgT		Niemann-Pick disease, type C1							68	58	61					18																	21114452		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21114452G>A	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.3549C>T	18.37:g.21114452G>A						NPC1_ENST00000412552.2_Silent_p.R865R	p.R1183R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			23	4103	-	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)		1183					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.3549C>T	CCDS11878.1																																																																																				0.587	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		26	19	0	0	0	1	0	26	19					A	21114452	G	A	21114452	2	1	311	1	0	0	0	0	0	0	0	1	10570	1074	38	1		1	NPC1	18	21114452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15691046	21114452	56962796	540	31614											
RNF125	54941	broad.mit.edu	37	chr18	29648291	29648291	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattgaggaagctcttatcCgaagagtcttagaccggtca	10	8	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	ENST00000217740.3	+	6	1135	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	215					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						AGCTCTTATCCGAAGAGTCTT	0.338																																						ENST00000217740.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(643-645)Cga>Tga		ring finger protein 125, E3 ubiquitin protein ligase							57	60	59					18																	29648291		2201	4300	6501	SO:0001587	stop_gained	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29648291C>T	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.643C>T	18.37:g.29648291C>T	ENSP00000217740:p.Arg215*					RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.R215*	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN			6	1135	+			215					Q9NX39	Nonsense_Mutation	SNP	ENST00000217740.3	37	c.643C>T	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	C	39	7.858494	0.98528	.	.	ENSG00000101695	ENST00000217740	.	.	.	5.89	4.04	0.47022	.	0.148432	0.31156	N	0.008147	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-21.0789	11.4409	0.50096	0.3286:0.6714:0.0:0.0	.	.	.	.	X	215	.	ENSP00000217740:R215X	R	+	1	2	RNF125	27902289	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	0.588000	0.23924	0.761000	0.33130	0.655000	0.94253	CGA		0.338	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		30	26	0	0	0	1	0	30	26					T	29648291	C	T	29648291	4	4	311	1	0	0	0	0	0	1	0	0	13434	644	23	1	665	1	RNF125	18	29648291	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8533839	29648291	48428957	541	31615											
ZNF516	9658	broad.mit.edu	37	chr18	74153957	74153957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtggatggcattgtgggCgttcaagctgtccaggtttg	17	7	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	ENST00000443185.2	-	3	1371	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	352					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(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1054-1056)Gcc>Acc		zinc finger protein 516							31	36	34					18																	74153957		2137	4249	6386	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153957C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1054G>A	18.37:g.74153957C>T	ENSP00000394757:p.Ala352Thr					ZNF516_ENST00000524431.2_5'UTR	p.A352T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1371	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	352						Missense_Mutation	SNP	ENST00000443185.2	37	c.1054G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.344934	0.82022	.	.	ENSG00000101493	ENST00000443185	T	0.27890	1.64	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.073964	0.53938	D	0.000058	T	0.41766	0.1173	.	.	.	0.42321	D	0.992259	D	0.69078	0.997	P	0.51415	0.669	T	0.16867	-1.0388	9	0.33940	T	0.23	-4.5427	18.4339	0.90636	0.0:1.0:0.0:0.0	.	352	Q92618	ZN516_HUMAN	T	352	ENSP00000394757:A352T	ENSP00000394757:A352T	A	-	1	0	ZNF516	72282945	0.776000	0.28616	0.995000	0.50966	0.956000	0.61745	2.968000	0.49224	2.583000	0.87209	0.655000	0.94253	GCC		0.657	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		22	13	0	0	0	1	0	22	13					T	74153957	C	T	74153957	3	4	311	1	0	0	0	0	1	0	0	0	17957	768	27	1	2458	1	ZNF516	18	74153957	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	44505666	74153957	3923291	542	31616											
ADNP2	22850	broad.mit.edu	37	chr18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-													agattttagcattagatcctAaaaaatatgaaggccgttct							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	ENST00000262198.4	+	4	3585	c.3130delA	c.(3130-3132)aaafs	p.K1045fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1045					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3130-3132)aafs		ADNP homeobox 2							42	47	45					18																	77896426		2202	4300	6502	SO:0001589	frameshift_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896426delA	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3130delA	18.37:g.77896426delA	ENSP00000262198:p.Lys1045fs						p.K1045fs	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3585	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	1045					A8K951|O94943|Q9H9P3	Frame_Shift_Del	DEL	ENST00000262198.4	37	c.3130delA	CCDS32853.1																																																																																				0.358	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		34	29						34	29	---	---	---	---	-	77896426	A	-	77896426	7	5	311	1	0	1	0	1	0	0	0	0	324	363	13	0	3140	0	ADNP2	18	77896426	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	3742469	77896426	180822	543	31617											
PALM	5064	broad.mit.edu	37	chr19	746408	746408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggtccacggccggggCggcagagacccggggggctg	22	12	0	1	rs375298878		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	ENST00000338448.5	+	9	804	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PALM_ENST00000264560.7_Missense_Mutation_p.A209V|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	253					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)		ACGGCCGGGGCGGCAGAGACC	0.726																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(625-627)gCg>gTg		paralemmin		C	VAL/ALA,VAL/ALA	0,4396		0,0,2198	14	17	16		626,758	2.6	0.1	19		16	1,8587		0,1,4293	no	missense,missense	PALM	NM_001040134.1,NM_002579.2	64,64	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	209/344,253/388	746408	1,12983	2198	4294	6492	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746408C>T	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.758C>T	19.37:g.746408C>T	ENSP00000341911:p.Ala253Val					PALM_ENST00000338448.5_Missense_Mutation_p.A253V|PALM_ENST00000606643.1_3'UTR	p.A209V	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		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)	8	820	+		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)	253					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.626C>T	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356323	0.24598	0.0	1.16E-4	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.32023	1.94;1.47	4.71	2.58	0.30949	.	1.216660	0.05825	N	0.616542	T	0.28267	0.0698	L	0.60455	1.87	0.09310	N	1	P;P	0.50066	0.931;0.886	B;B	0.41412	0.331;0.356	T	0.17198	-1.0377	10	0.16896	T	0.51	-5.6107	5.126	0.14884	0.1654:0.6593:0.0:0.1753	.	209;253	O75781-2;O75781	.;PALM_HUMAN	V	253;209;118	ENSP00000341911:A253V;ENSP00000264560:A209V	ENSP00000264560:A209V	A	+	2	0	PALM	697408	0.001000	0.12720	0.090000	0.20809	0.297000	0.27493	0.633000	0.24598	0.979000	0.38497	-0.369000	0.07265	GCG		0.726	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		18	35	0	0	0	1	0	18	35					T	746408	C	T	746408	3	4	311	1	0	0	0	0	1	0	0	0	11408	768	27	1	792	1	PALM	19	746408	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		746408	58382575	544	31618											
SHD	56961	broad.mit.edu	37	chr19	4290594	4290594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagggtgccgagcatctGgctctgctgtaccccgtggt	15	12	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	ENST00000543264.2	+	6	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L	SHD_ENST00000599689.1_Silent_p.L289L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	329	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(985-987)ctG>ctA		Src homology 2 domain containing transforming protein D							56	50	52					19																	4290594		2203	4300	6503	SO:0001819	synonymous_variant	56961							g.chr19:4290594G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.987G>A	19.37:g.4290594G>A						SHD_ENST00000599689.1_Silent_p.L289L	p.L329L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	6	2450	+			329			SH2.		Q96NC2	Silent	SNP	ENST00000543264.2	37	c.987G>A	CCDS12125.1																																																																																				0.662	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		36	86	0	0	0	1	0	36	86					A	4290594	G	A	4290594	2	1	311	1	0	0	0	0	0	0	0	1	14275	1335	47	2		2	SHD	19	4290594	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3544186	4290594	54838389	545	31619											
PTPRS	5802	broad.mit.edu	37	chr19	5244109	5244109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagtagacgcggtagccgCggatcaggccgttgggctcc	16	11	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	ENST00000587303.1	-	10	1472	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	PTPRS_ENST00000372412.4_Missense_Mutation_p.R459H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	458	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)	GCGGTAGCCGCGGATCAGGCC	0.682																																						ENST00000372412.4																			0				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						c.(1375-1377)cGc>cAc		protein tyrosine phosphatase, receptor type, S							83	78	80					19																	5244109		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244109C>T	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.1373G>A	19.37:g.5244109C>T	ENSP00000467537:p.Arg458His					PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R458H	p.R459H			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1609	-			458			Fibronectin type-III 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1376G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777583	0.49786	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	3.84	3.84	0.44239	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202030	0.32671	U	0.005783	T	0.69860	0.3158	M	0.71206	2.165	0.22531	N	0.999012	D;D;D;D;D;D	0.89917	0.963;0.961;0.989;1.0;0.999;0.995	P;P;P;D;D;P	0.74023	0.707;0.707;0.615;0.965;0.982;0.823	T	0.63139	-0.6704	10	0.44086	T	0.13	.	15.9215	0.79580	0.0:1.0:0.0:0.0	.	458;445;449;445;458;471	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	H	471;459;458;458;458;454;445;458;449;445	ENSP00000361489:R459H;ENSP00000349932:R458H;ENSP00000262963:R454H;ENSP00000269907:R445H;ENSP00000327313:R445H	ENSP00000262963:R454H	R	-	2	0	PTPRS	5195109	0.999000	0.42202	0.994000	0.49952	0.095000	0.18619	5.447000	0.66606	1.999000	0.58509	0.462000	0.41574	CGC		0.682	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			34	163	0	0	0	1	0	34	163					T	5244109	C	T	5244109	3	4	311	1	0	0	0	0	1	0	0	0	12811	768	27	1	4585	1	PTPRS	19	5244109	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	953515	5244109	53884874	546	31620											
DUS3L	56931	broad.mit.edu	37	chr19	5786850	5786850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgctcccgagagcggcCgtggagctgggggagaagcc	19	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	ENST00000309061.7	-	9	1492	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	466							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						CGAGAGCGGCCGTGGAGCTGG	0.642																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1396-1398)Ggc>Agc		dihydrouridine synthase 3-like (S. cerevisiae)							19	23	22					19																	5786850		2198	4293	6491	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786850C>T		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.1396G>A	19.37:g.5786850C>T	ENSP00000311977:p.Gly466Ser					DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S	p.G466S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			9	1492	-			466					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1396G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333935	0.95758	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.44083	0.93;0.93	5.01	5.01	0.66863	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	H	0.99286	4.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88375	0.2997	10	0.72032	D	0.01	-28.5729	15.8427	0.78861	0.0:1.0:0.0:0.0	.	224;466	Q96G46-3;Q96G46	.;DUS3L_HUMAN	S	466;224	ENSP00000311977:G466S;ENSP00000315558:G224S	ENSP00000311977:G466S	G	-	1	0	DUS3L	5737850	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.080000	0.76837	2.324000	0.78689	0.549000	0.68633	GGC		0.642	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	20	0	0	0	1	0	11	20					T	5786850	C	T	5786850	3	4	311	1	0	0	0	0	1	0	0	0	4807	652	23	1	576	1	DUS3L	19	5786850	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	542741	5786850	53342133	547	31621											
VAV1	7409	broad.mit.edu	37	chr19	6772867	6772867	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctcatccagtgccgggtgCtgccgcccagccaccgcgtg	14	17	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	ENST00000602142.1	+	1	131	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_ENST00000596764.1_Missense_Mutation_p.L17V|VAV1_ENST00000304076.2_Missense_Mutation_p.L17V|VAV1_ENST00000539284.1_5'Flank	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	17	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						GTGCCGGGTGCTGCCGCCCAG	0.677																																						ENST00000304076.2																			0				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						c.(49-51)Ctg>Gtg		vav 1 guanine nucleotide exchange factor							73	56	61					19																	6772867		2201	4299	6500	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6772867C>G		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.49C>G	19.37:g.6772867C>G	ENSP00000472929:p.Leu17Val					VAV1_ENST00000596764.1_Missense_Mutation_p.L17V|VAV1_ENST00000602142.1_Missense_Mutation_p.L17V	p.L17V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			1	143	+			17			CH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.49C>G	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.477602	0.84640	.	.	ENSG00000141968	ENST00000304076	T	0.61274	0.12	4.18	4.18	0.49190	Calponin homology domain (5);	0.000000	0.51477	U	0.000087	T	0.75317	0.3833	M	0.78049	2.395	0.80722	D	1	D;D	0.71674	0.968;0.998	D;D	0.91635	0.988;0.999	T	0.79688	-0.1699	10	0.87932	D	0	.	13.9942	0.64386	0.0:1.0:0.0:0.0	.	17;17	B2R8B5;P15498	.;VAV_HUMAN	V	17	ENSP00000302269:L17V	ENSP00000302269:L17V	L	+	1	2	VAV1	6723867	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.783000	0.47766	1.870000	0.54199	0.306000	0.20318	CTG		0.677	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			15	80	0	0	0	1	0	15	80					G	6772867	C	G	6772867	3	3	311	1	0	0	0	0	1	0	0	0	17128	796	28	4	51	4	VAV1	19	6772867	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	986017	6772867	52356116	548	31622											
MCOLN1	57192	broad.mit.edu	37	chr19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-													ggcgtgatccgctacctgacCttcttccacaactacaatgt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes). {ECO:0000269|PubMed:11030752, ECO:0000269|PubMed:11317355, ECO:0000269|PubMed:12182165}.		calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1216-1221)acc>ac		mucolipin 1																																				SO:0001651	inframe_deletion	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7594070_7594072delCTT	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1218_1220delCTT	19.37:g.7594073_7594075delCTT	ENSP00000264079:p.Phe408del						p.TF406del	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			10	1343_1345	+			406					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	In_Frame_Del	DEL	ENST00000264079.6	37	c.1218_1220delCTT	CCDS12180.1																																																																																				0.581	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		21	83						21	83	---	---	---	---	-	7594072	CTT	-	7594070	7	5	311	1	0	1	0	1	0	0	0	0	9395	668	24	0	1256	0	MCOLN1	19	7594070	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	821203	7594070	51534913	549	31623											
PNPLA6	10908	broad.mit.edu	37	chr19	7619474	7619474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgtcagggtggctggcCcagcaggaggatgcacaccg	17	12	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	ENST00000221249.6	+	24	2816	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000414982.3_Silent_p.A843A|PNPLA6_ENST00000450331.3_Silent_p.A795A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	834					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						GGTGGCTGGCCCAGCAGGAGG	0.652																																						ENST00000221249.6																			0				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						c.(2383-2385)gcC>gcT		patatin-like phospholipase domain containing 6							67	55	59					19																	7619474		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619474C>T	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.2385C>T	19.37:g.7619474C>T						PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000450331.3_Silent_p.A795A|PNPLA6_ENST00000414982.3_Silent_p.A843A	p.A795A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			24	2816	+			834					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.2385C>T	CCDS32891.1																																																																																				0.652	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		26	76	0	0	0	1	0	26	76					T	7619474	C	T	7619474	2	4	311	1	0	0	0	0	0	0	0	1	12169	610	22	2		2	PNPLA6	19	7619474	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	25404	7619474	51509509	550	31624											
FBN3	84467	broad.mit.edu	37	chr19	8188415	8188415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagtggaagctgcccacCgtgtttctgcaggtaccgtg	14	12	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	ENST00000600128.1	-	24	3429	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T	FBN3_ENST00000270509.2_Silent_p.T1005T|FBN3_ENST00000601739.1_Silent_p.T1005T			Q75N90	FBN3_HUMAN	fibrillin 3	1005	EGF-like 12; 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						AGCTGCCCACCGTGTTTCTGC	0.607																																						ENST00000600128.1																			0				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						c.(3013-3015)acG>acA		fibrillin 3							72	69	70					19																	8188415		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188415C>T		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.3015G>A	19.37:g.8188415C>T						FBN3_ENST00000270509.2_Silent_p.T1005T|FBN3_ENST00000601739.1_Silent_p.T1005T	p.T1005T			Q75N90	FBN3_HUMAN			24	3429	-			1005			EGF-like 12; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3015G>A	CCDS12196.1																																																																																				0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		40	35	0	0	0	1	0	40	35					T	8188415	C	T	8188415	2	4	311	1	0	0	0	0	0	0	0	1	5704	639	23	1		1	FBN3	19	8188415	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	568941	8188415	50940568	551	31625											
FBN3	84467	broad.mit.edu	37	chr19	8201185	8201185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggggctgctggtgcattCgtctacatctgaggggagag	17	8	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	ENST00000600128.1	-	12	1768	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	FBN3_ENST00000270509.2_Missense_Mutation_p.E452K|FBN3_ENST00000601739.1_Missense_Mutation_p.E452K			Q75N90	FBN3_HUMAN	fibrillin 3	452	EGF-like 4; 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						CTGGTGCATTCGTCTACATCT	0.677																																						ENST00000600128.1																			0				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						c.(1354-1356)Gaa>Aaa		fibrillin 3							67	57	61					19																	8201185		2203	4299	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201185C>T		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.1354G>A	19.37:g.8201185C>T	ENSP00000470498:p.Glu452Lys					FBN3_ENST00000270509.2_Missense_Mutation_p.E452K|FBN3_ENST00000601739.1_Missense_Mutation_p.E452K	p.E452K			Q75N90	FBN3_HUMAN			12	1768	-			452			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1354G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.971029	0.53614	.	.	ENSG00000142449	ENST00000270509	D	0.98849	-5.18	3.75	2.69	0.31865	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	0.99036	0.9670	M	0.88377	2.95	0.36848	D	0.887732	D	0.89917	1.0	D	0.81914	0.995	D	0.99941	1.1405	10	0.87932	D	0	.	10.9254	0.47187	0.0:0.9057:0.0:0.0943	.	452	Q75N90	FBN3_HUMAN	K	452	ENSP00000270509:E452K	ENSP00000270509:E452K	E	-	1	0	FBN3	8107185	0.995000	0.38212	0.005000	0.12908	0.114000	0.19823	3.344000	0.52174	0.545000	0.28902	0.462000	0.41574	GAA		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		37	103	0	0	0	1	0	37	103					T	8201185	C	T	8201185	3	4	311	1	0	0	0	0	1	0	0	0	5704	893	31	1	7287	1	FBN3	19	8201185	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12770	8201185	50927798	552	31626											
MYO1F	4542	broad.mit.edu	37	chr19	8601249	8601249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcgtccccacgccaccGcggccacgtctcgggggtca	13	18	2	0	rs373423000		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	ENST00000338257.8	-	19	2197	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	644	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1930-1932)Cgg>Tgg		myosin IF		G	TRP/ARG	1,4107		0,1,2053	43	47	46		1930	2.2	0	19		46	0,8404		0,0,4202	no	missense	MYO1F	NM_012335.3	101	0,1,6255	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	644/1099	8601249	1,12511	2054	4202	6256	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601249G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1930C>T	19.37:g.8601249G>A	ENSP00000344871:p.Arg644Trp						p.R644W	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			19	2197	-			644			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1930C>T	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056179	0.55325	2.43E-4	0.0	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87650	-2.28	4.51	2.25	0.28309	Myosin head, motor domain (2);	1.220140	0.05727	N	0.598871	D	0.90082	0.6902	M	0.88105	2.93	0.09310	N	1	D	0.54772	0.968	P	0.48488	0.579	T	0.74287	-0.3714	10	0.52906	T	0.07	.	3.5075	0.07696	0.2004:0.0:0.4523:0.3473	.	644	O00160	MYO1F_HUMAN	W	689;644	ENSP00000344871:R644W	ENSP00000304899:R689W	R	-	1	2	MYO1F	8507249	0.000000	0.05858	0.004000	0.12327	0.852000	0.48524	1.059000	0.30517	0.311000	0.23014	0.454000	0.30748	CGG		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			59	78	0	0	0	1	0	59	78					A	8601249	G	A	8601249	3	1	311	1	0	0	0	0	1	0	0	0	10073	1086	38	1	1406	1	MYO1F	19	8601249	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	400064	8601249	50527734	553	31627											
ZNF559	84527	broad.mit.edu	37	chr19	9453655	9453655	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggtccacatatcttattCgacatctaagaagtcatagt	6	10	3	1	rs147456906	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	ENST00000393883.2	+	6	2176	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	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)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438													c|||	14	0.00279553	0.0	0.0	5008	,	,		23333	0.0139		0.0	False		,,,				2504	0.0					ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1528-1530)Cga>Tga		zinc finger protein 559							109	102	105					19																	9453655		2203	4300	6503	SO:0001587	stop_gained	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453655C>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1528C>T	19.37:g.9453655C>T	ENSP00000377461:p.Arg510*					ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron	p.R510*	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	2176	+			510					K7EMG6	Nonsense_Mutation	SNP	ENST00000393883.2	37	c.1528C>T	CCDS12211.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	c	15.37	2.813366	0.50527	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	.	.	.	2.22	-4.44	0.03557	.	.	.	.	.	.	.	.	.	.	.	0.42382	D	0.992491	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	1.6706	0.02810	0.2717:0.3971:0.0979:0.2333	.	.	.	.	X	510;430;510	.	ENSP00000325393:R510X	R	+	1	2	ZNF559	9314655	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-7.762000	0.00030	-4.640000	0.00038	-0.642000	0.03964	CGA		0.438	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		35	90	0	0	0	1	0	35	90					T	9453655	C	T	9453655	4	4	311	1	0	0	0	0	0	1	0	0	17987	876	31	1	1542	1	ZNF559	19	9453655	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	852406	9453655	49675328	554	31628											
ZGLP1	100125288	broad.mit.edu	37	chr19	10419252	10419252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagggcagtggggtcacGttttcttgggtgactcctgg	17	7	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	ENST00000403903.3	-	1	1304	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	36					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						GTGGGGTCACGTTTTCTTGGG	0.617																																						ENST00000403903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						c.(106-108)Cgt>Tgt		zinc finger, GATA-like protein 1							41	48	46					19																	10419252		1986	4144	6130	SO:0001583	missense	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10419252G>A	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.106C>T	19.37:g.10419252G>A	ENSP00000384434:p.Arg36Cys					CTD-2369P2.10_ENST00000452032.2_Intron|FDX1L_ENST00000541276.1_Intron|ZGLP1_ENST00000403352.1_Intron	p.R36C	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN			1	1304	-			36						Missense_Mutation	SNP	ENST00000403903.3	37	c.106C>T	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869228	0.32977	.	.	ENSG00000220201	ENST00000403903	D	0.98135	-4.74	3.2	-0.524	0.11920	.	.	.	.	.	D	0.91952	0.7451	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	D	0.84650	0.0700	9	0.45353	T	0.12	0.2998	5.1421	0.14965	0.0:0.4531:0.4173:0.1296	.	36	P0C6A0	ZGLP1_HUMAN	C	36	ENSP00000384434:R36C	ENSP00000384434:R36C	R	-	1	0	ZGLP1	10280252	0.000000	0.05858	0.000000	0.03702	0.729000	0.41735	-1.128000	0.03247	-0.109000	0.12044	-1.262000	0.01453	CGT		0.617	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		12	23	0	0	0	1	0	12	23					A	10419252	G	A	10419252	3	1	311	1	0	0	0	0	1	0	0	0	17670	1145	40	1	725	1	ZGLP1	19	10419252	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965597	10419252	48709731	555	31629											
ILF3	3609	broad.mit.edu	37	chr19	10790547	10790547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacagaccgatgggtgCtggcgaggccctgcggagag	18	11	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10790547C>T	ENST00000590261.1	+	7	803	c.803C>T	c.(802-804)gCt>gTt	p.A268V	ILF3_ENST00000420083.1_Missense_Mutation_p.A268V|ILF3_ENST00000592763.1_Missense_Mutation_p.A268V|ILF3_ENST00000407004.3_Missense_Mutation_p.A268V|ILF3_ENST00000449870.1_Missense_Mutation_p.A268V|ILF3_ENST00000588657.1_Missense_Mutation_p.A268V|ILF3_ENST00000589998.1_Missense_Mutation_p.A268V|ILF3_ENST00000318511.3_Missense_Mutation_p.A268V|ILF3_ENST00000250241.8_Missense_Mutation_p.A268V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	268	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGATGGGTGCTGGCGAGGCC	0.612																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(802-804)gCt>gTt		interleukin enhancer binding factor 3, 90kDa							73	65	68					19																	10790547		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10790547C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.803C>T	19.37:g.10790547C>T	ENSP00000468156:p.Ala268Val					ILF3_ENST00000589998.1_Missense_Mutation_p.A268V|ILF3_ENST00000250241.8_Missense_Mutation_p.A268V|ILF3_ENST00000420083.1_Missense_Mutation_p.A268V|ILF3_ENST00000592763.1_Missense_Mutation_p.A268V|ILF3_ENST00000588657.1_Missense_Mutation_p.A268V|ILF3_ENST00000590261.1_Missense_Mutation_p.A268V|ILF3_ENST00000318511.3_Missense_Mutation_p.A268V|ILF3_ENST00000407004.3_Missense_Mutation_p.A268V	p.A268V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		8	1120	+			268			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.803C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092988	0.56075	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.14	4.1	0.47936	DZF (2);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	L	0.48642	1.525	0.80722	D	1	D;D;D;P;D;D	0.76494	0.965;0.993;0.999;0.537;0.975;0.998	P;D;D;B;P;D	0.83275	0.78;0.915;0.996;0.236;0.778;0.994	T	0.50004	-0.8878	10	0.25751	T	0.34	.	14.3232	0.66502	0.1497:0.8503:0.0:0.0	.	268;268;268;268;268;268	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	V	268	ENSP00000404121:A268V;ENSP00000315205:A268V;ENSP00000405436:A268V;ENSP00000384660:A268V;ENSP00000250241:A268V	ENSP00000250241:A268V	A	+	2	0	ILF3	10651547	1.000000	0.71417	0.908000	0.35775	0.973000	0.67179	7.741000	0.84997	1.275000	0.44379	0.650000	0.86243	GCT		0.612	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			4	89	0	0	0	1	0	4	89					T	10790547	C	T	10790547	3	4	311	1	0	0	0	0	1	0	0	0	7712	797	28	2	829	2	ILF3	19	10790547	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	371295	10790547	48338436	556	31630											
CNN1	1264	broad.mit.edu	37	chr19	11660568	11660568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccagagctgggtgagccCgcccacaaccaccacgcaca	9	18	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	ENST00000252456.2	+	7	1063	c.852C>T	c.(850-852)ccC>ccT	p.P284P	CNN1_ENST00000592923.1_Silent_p.P234P|CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000544952.1_Silent_p.P264P	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	284					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632																																						ENST00000592923.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(700-702)ccC>ccT		calponin 1, basic, smooth muscle							95	81	85					19																	11660568		2203	4300	6503	SO:0001819	synonymous_variant	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660568C>T	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.852C>T	19.37:g.11660568C>T						CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P|CNN1_ENST00000544952.1_Silent_p.P264P	p.P234P			P51911	CNN1_HUMAN			8	1279	+			284					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Silent	SNP	ENST00000252456.2	37	c.702C>T	CCDS12263.1																																																																																				0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		27	133	0	0	0	1	0	27	133					T	11660568	C	T	11660568	2	4	311	1	0	0	0	0	0	0	0	1	3609	639	23	1		1	CNN1	19	11660568	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	870021	11660568	47468415	557	31631											
ZNF844	284391	broad.mit.edu	37	chr19	12186611	12186611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactggagagaaaccatatAaatgtaaacaatgtggtaaa	8	5	0	1	rs7259684	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12186611A>G	ENST00000439326.3	+	4	851	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	226			K -> E (in dbSNP:rs7259684).		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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373													.|||	825	0.164736	0.413	0.0663	5008	,	,		21878	0.0665		0.0825	False		,,,				2504	0.0849					ENST00000439326.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(676-678)Aaa>Gaa		zinc finger protein 844		G	GLU/LYS	492,892		95,302,295	40	37	38		676	-1.7	0	19	dbSNP_116	38	236,2946		6,224,1361	no	missense	ZNF844	NM_001136501.1	56	101,526,1656	GG,GA,AA		7.4167,35.5491,15.9439	benign	226/667	12186611	728,3838	692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12186611A>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.676A>G	19.37:g.12186611A>G	ENSP00000392024:p.Lys226Glu					ZNF844_ENST00000441304.2_3'UTR	p.K226E	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	851	+			226		K -> E (in dbSNP:rs7259684).			Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.676A>G	CCDS45985.1	323	0.1478937728937729	190	0.3861788617886179	27	0.07458563535911603	40	0.06993006993006994	66	0.0870712401055409	a	0.261	-0.999373	0.02128	0.355491	0.074167	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	T;T	0.16196	3.1;2.36	2.31	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.44452	-0.9327	8	0.02654	T	1	.	8.289	0.31946	0.5789:0.0:0.4211:0.0	rs7259684;rs7259684	226	Q08AG5	ZN844_HUMAN	E	226;226;201;69	ENSP00000392024:K226E;ENSP00000448588:K69E	ENSP00000392024:K226E	K	+	1	0	ZNF844	12047611	0.000000	0.05858	0.002000	0.10522	0.421000	0.31385	-5.762000	0.00100	-1.016000	0.03371	-0.971000	0.02607	AAA		0.373	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	24	0	0	0	1	0	3	24					G	12186611	A	G	12186611	3	3	311	1	0	0	0	0	1	0	0	0	18187	363	13	3	690	3	ZNF844	19	12186611	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	526043	12186611	46942372	558	31632											
MAN2B1	4125	broad.mit.edu	37	chr19	12768302	12768302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagctggcgcgcgtagtcGttggccacgtgctggcggga	18	11	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	ENST00000456935.2	-	11	1417	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	459					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1375-1377)aaC>aaT		mannosidase, alpha, class 2B, member 1							11	9	10					19																	12768302		2157	4231	6388	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12768302G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1377C>T	19.37:g.12768302G>A						MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	p.N459N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			11	1417	-			459					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1377C>T	CCDS32919.1																																																																																				0.682	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			4	3	0	0	0	1	0	4	3					A	12768302	G	A	12768302	2	1	311	1	0	0	0	0	0	0	0	1	9216	1136	40	1		1	MAN2B1	19	12768302	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	581691	12768302	46360681	559	31633											
TNPO2	30000	broad.mit.edu	37	chr19	12817117	12817117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggcaaagacaagggtgtCcaggatgtagctgaggtagg	16	5	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	ENST00000592287.1	-	14	1669	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	TNPO2_ENST00000425528.1_Missense_Mutation_p.D521N|TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	521					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1561-1563)Gac>Aac		transportin 2							77	85	82					19																	12817117		2112	4238	6350	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817117C>T	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.1561G>A	19.37:g.12817117C>T	ENSP00000468434:p.Asp521Asn					TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N|TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000592287.1_Missense_Mutation_p.D521N	p.D521N			O14787	TNPO2_HUMAN			15	1918	-			521					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1561G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767201	0.69878	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	N	0.20483	0.58	0.80722	D	1	B;B	0.15930	0.004;0.015	B;B	0.16289	0.015;0.015	T	0.49652	-0.8917	10	0.46703	T	0.11	-42.3078	18.8323	0.92145	0.0:1.0:0.0:0.0	.	685;521	Q4LE60;O14787	.;TNPO2_HUMAN	N	685;521;521;521;521;521;521	ENSP00000407182:D521N;ENSP00000389648:D521N;ENSP00000397379:D521N;ENSP00000349321:D521N	ENSP00000349321:D521N	D	-	1	0	TNPO2	12678117	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.461000	0.80834	2.755000	0.94549	0.655000	0.94253	GAC		0.587	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		19	72	0	0	0	1	0	19	72					T	12817117	C	T	12817117	3	4	311	1	0	0	0	0	1	0	0	0	16333	855	30	2	1176	2	TNPO2	19	12817117	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	48815	12817117	46311866	560	31634											
SLC1A6	6511	broad.mit.edu	37	chr19	15072860	15072860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatagcctcattgaggctgtCgaagaagtccctgaggactc	11	10	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	ENST00000221742.3	-	5	896	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N|SLC1A6_ENST00000598504.1_Missense_Mutation_p.D297N|SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	297					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						TTGAGGCTGTCGAAGAAGTCC	0.572																																						ENST00000598504.1																			0				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						c.(889-891)Gac>Aac		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						90	85	86					19																	15072860		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072860C>T		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.889G>A	19.37:g.15072860C>T	ENSP00000221742:p.Asp297Asn					SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000221742.3_Missense_Mutation_p.D297N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N	p.D297N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2248	-			297					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.889G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	9.716	1.158300	0.21454	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.60171	0.21;0.21;0.21	4.33	3.23	0.37069	.	0.101398	0.64402	D	0.000002	T	0.39860	0.1094	L	0.28274	0.84	0.49483	D	0.999796	B;P;B	0.43392	0.088;0.805;0.01	B;P;B	0.44477	0.023;0.451;0.005	T	0.40961	-0.9535	10	0.02654	T	1	-38.4812	9.0412	0.36319	0.0:0.8798:0.0:0.1202	.	233;297;297	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	N	233;297;297	ENSP00000409386:D233N;ENSP00000221742:D297N;ENSP00000446175:D297N	ENSP00000221742:D297N	D	-	1	0	SLC1A6	14933860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.870000	0.48451	2.255000	0.74692	0.460000	0.39030	GAC		0.572	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		75	101	0	0	0	1	0	75	101					T	15072860	C	T	15072860	3	4	311	1	0	0	0	0	1	0	0	0	14436	884	31	1	825	1	SLC1A6	19	15072860	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2255743	15072860	44056123	561	31635											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580456	15580456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaccgcggtgaagtgcGgccaggtgcgcagcaggtcg	17	12	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	ENST00000340880.4	-	4	2108	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P543L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	543					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						GGTGAAGTGCGGCCAGGTGCG	0.721																																						ENST00000292609.4																			0				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						c.(1627-1629)cCg>cTg		peptidoglycan recognition protein 2							9	8	8					19																	15580456		2157	4217	6374	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580456G>A	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.1628C>T	19.37:g.15580456G>A	ENSP00000345968:p.Pro543Leu					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P543L	p.P543L			Q96PD5	PGRP2_HUMAN			4	1757	-			543					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1628C>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735749	0.69189	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.19938	2.11;2.11	5.34	5.34	0.76211	N-acetylmuramoyl-L-alanine amidase domain (2);	0.180437	0.47093	D	0.000255	T	0.25901	0.0631	L	0.59436	1.845	0.43152	D	0.994927	P;P	0.47409	0.87;0.895	P;B	0.44447	0.45;0.29	T	0.02498	-1.1150	10	0.66056	D	0.02	-35.2027	11.595	0.50968	0.0:0.0:0.8217:0.1783	.	543;543	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	543	ENSP00000345968:P543L;ENSP00000292609:P543L	ENSP00000292609:P543L	P	-	2	0	PGLYRP2	15441456	0.979000	0.34478	1.000000	0.80357	0.739000	0.42172	1.857000	0.39399	2.501000	0.84356	0.563000	0.77884	CCG		0.721	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		12	13	0	0	0	1	0	12	13					A	15580456	G	A	15580456	3	1	311	1	0	0	0	0	1	0	0	0	11794	1116	39	1	110	1	PGLYRP2	19	15580456	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	507596	15580456	43548527	562	31636											
OR10H1	26539	broad.mit.edu	37	chr19	15918656	15918656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggagacggagagggcGcacaggaagaggtacatggg	18	7	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	ENST00000334920.2	-	1	280	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	64						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						CGGAGAGGGCGCACAGGAAGA	0.642																																						ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(190-192)tgC>tgT		olfactory receptor, family 10, subfamily H, member 1							112	97	102					19																	15918656		2203	4299	6502	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918656G>A	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.192C>T	19.37:g.15918656G>A							p.C64C	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	280	-			64					Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.192C>T	CCDS12335.1																																																																																				0.642	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			53	118	0	0	0	1	0	53	118					A	15918656	G	A	15918656	2	1	311	1	0	0	0	0	0	0	0	1	10905	1079	38	1		1	OR10H1	19	15918656	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338200	15918656	43210327	563	31637											
KCNN1	3780	broad.mit.edu	37	chr19	18092920	18092920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcatcgcagcctggaccGtgcgcgtctgcgagaggtgc	16	12	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	ENST00000222249.9	+	5	1220	c.901G>A	c.(901-903)Gtg>Atg	p.V301M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	301					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	AGCCTGGACCGTGCGCGTCTG	0.652																																						ENST00000601725.1																			0																				26	19	21					19																	18092920		2202	4299	6501	SO:0001583	missense	0							g.chr19:18092920G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.901G>A	19.37:g.18092920G>A	ENSP00000476519:p.Val301Met													0	536	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	G	18.96	3.734013	0.69189	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	5.11	0.69529	Ion transport 2 (1);	0.000000	0.64402	D	0.000001	T	0.45558	0.1348	L	0.27975	0.815	0.52501	D	0.999953	P	0.42518	0.782	B	0.43386	0.418	T	0.41610	-0.9499	9	0.38643	T	0.18	-24.1848	16.013	0.80417	0.0:0.0:1.0:0.0	.	301	Q92952	KCNN1_HUMAN	M	318;301	.	ENSP00000222249:V318M	V	+	1	0	KCNN1	17953920	1.000000	0.71417	0.968000	0.41197	0.653000	0.38743	9.555000	0.98123	2.378000	0.81104	0.561000	0.74099	GTG		0.652	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		12	7	0	0	0	1	0	12	7					A	18092920	G	A	18092920	3	1	311	1	0	0	0	0	1	0	0	0	8078	1145	40	1	911	1	KCNN1	19	18092920	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2174264	18092920	41036063	564	31638											
TSSK6	51079	broad.mit.edu	37	chr19	19625703	19625703	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggagcacctcgggtgaCgcgtaggcggctgagccgca	16	14	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000512771.3_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_Silent_p.A178A|TSSK6_ENST00000360913.3_Silent_p.A178A|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|YJEFN3_ENST00000608404.1_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						CCTCGGGTGACGCGTAGGCGG	0.662																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(532-534)gcG>gcA		testis-specific serine kinase 6							44	35	38					19																	19625703		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625703C>T	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.19625703C>T	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.A178A	p.A178A			Q9BXA6	TSSK6_HUMAN			1	1135	-			178			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.534G>A	CCDS12404.2																																																																																				0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		8	48	0	0	0	1	0	8	48					T	19625703	C	T	19625703	1	4	311	0	1	0	0	0	0	0	0	0	16669	523	19	1		1	TSSK6	19	19625703	5'Flank	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1532783	19625703	39503280	565	31639											
CILP2	148113	broad.mit.edu	37	chr19	19655182	19655182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcccgggtgacgttcGtggacccccgagacctcacc	14	15	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	ENST00000291495.5	+	8	1913	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	CILP2_ENST00000586018.1_Missense_Mutation_p.V616M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	610						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						GGTGACGTTCGTGGACCCCCG	0.692																																						ENST00000586018.1																			0				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						c.(1846-1848)Gtg>Atg		cartilage intermediate layer protein 2							47	57	53					19																	19655182		2203	4298	6501	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655182G>A	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.1828G>A	19.37:g.19655182G>A	ENSP00000291495:p.Val610Met					CILP2_ENST00000291495.4_Missense_Mutation_p.V610M	p.V616M			Q8IUL8	CILP2_HUMAN			8	1948	+			610					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1846G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812095	0.50527	.	.	ENSG00000160161	ENST00000291495	T	0.52754	0.65	4.37	3.28	0.37604	.	0.143616	0.46145	D	0.000318	T	0.35038	0.0918	N	0.22421	0.69	0.35019	D	0.757693	D;D	0.54964	0.969;0.969	B;P	0.45232	0.406;0.474	T	0.53063	-0.8491	10	0.72032	D	0.01	-24.218	9.8304	0.40939	0.0:0.4051:0.5949:0.0	.	610;610	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	610	ENSP00000291495:V610M	ENSP00000291495:V610M	V	+	1	0	CILP2	19516182	0.737000	0.28175	0.928000	0.36995	0.712000	0.41017	1.081000	0.30791	1.994000	0.58287	0.485000	0.47835	GTG		0.692	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		77	175	0	0	0	1	0	77	175					A	19655182	G	A	19655182	3	1	311	1	0	0	0	0	1	0	0	0	3430	1145	40	1	1858	1	CILP2	19	19655182	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29479	19655182	39473801	566	31640											
CD22	933	broad.mit.edu	37	chr19	35823774	35823774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtcagctggggctgaGgatggagtccaagactgaga	17	7	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	ENST00000085219.5	+	3	425	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_ENST00000594250.1_Missense_Mutation_p.R120M|CD22_ENST00000536635.2_Missense_Mutation_p.R120M|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	120	Ig-like V-type.				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)			CTGGGGCTGAGGATGGAGTCC	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				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						c.(358-360)aGg>aTg		CD22 molecule	OspA lipoprotein(DB00045)						90	79	83					19																	35823774		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35823774G>T	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.359G>T	19.37:g.35823774G>T	ENSP00000085219:p.Arg120Met					CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R120M|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000594250.1_Missense_Mutation_p.R120M	p.R120M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	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)		3	425	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		120			Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.359G>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555079	0.65425	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.26	5.26	0.73747	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.69205	0.3085	M	0.79805	2.47	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;0.998;0.999	T	0.70586	-0.4831	10	0.44086	T	0.13	.	14.3709	0.66838	0.0:0.0:1.0:0.0	.	120;120;120;120	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	M	120	ENSP00000085219:R120M;ENSP00000442279:R120M;ENSP00000339349:R120M;ENSP00000441237:R120M	ENSP00000085219:R120M	R	+	2	0	CD22	40515614	0.997000	0.39634	0.976000	0.42696	0.475000	0.33008	4.489000	0.60309	2.459000	0.83118	0.563000	0.77884	AGG		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		18	71	1	0	0.000132079	1	0.000133239	18	71					T	35823774	G	T	35823774	3	4	311	1	0	0	0	0	1	0	0	0	2985	1000	35	4	365	4	CD22	19	35823774	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16168592	35823774	23305209	567	31641											
MLL4	9757	broad.mit.edu	37	chr19	36216664	36216664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgccatgcataccaccCggcctgtctggggcccagct	11	18	1	0	rs558770050	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:36216664C>T	ENST00000222270.7	+	13	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P1277L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1277					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCATACCACCCGGCCTGTCTG	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18427	0.0		0.0	False		,,,				2504	0.0					ENST00000420124.1																			0											c.(3829-3831)cCg>cTg									22	27	26					19																	36216664		2111	4227	6338	SO:0001583	missense	0							g.chr19:36216664C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3830C>T	19.37:g.36216664C>T	ENSP00000222270:p.Pro1277Leu					WBP7_ENST00000222270.7_Missense_Mutation_p.P1277L|KMT2B_ENST00000607650.1_RNA	p.P1277L							13	3830	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3830C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014830	0.54468	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.86230	-2.09;-2.09	5.32	5.32	0.75619	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44483	D	0.000450	T	0.79458	0.4449	L	0.46157	1.445	0.49299	D	0.999773	B	0.34161	0.439	B	0.25506	0.061	T	0.77250	-0.2657	10	0.42905	T	0.14	.	7.9005	0.29731	0.0:0.8337:0.0:0.1663	.	1277	Q9UMN6	MLL4_HUMAN	L	1277	ENSP00000222270:P1277L;ENSP00000398837:P1277L	ENSP00000222270:P1277L	P	+	2	0	AD000671.1	40908504	0.995000	0.38212	1.000000	0.80357	0.894000	0.52154	3.444000	0.52914	2.771000	0.95319	0.655000	0.94253	CCG		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	12	0	0	0	1	0	4	12					T	36216664	C	T	36216664	3	4	311	1	0	0	0	0	1	0	0	0	9623	652	23	1	3880	1	MLL4	19	36216664	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	392890	36216664	22912319	568	31642											
GGN	199720	broad.mit.edu	37	chr19	38876366	38876366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgggtgcgggcgcGgacacaggcggcgagggctc	21	13	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	ENST00000334928.6	-	3	1668	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	512	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1534-1536)tcC>tcT		gametogenetin							9	10	10					19																	38876366		2107	4124	6231	SO:0001819	synonymous_variant	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876366G>A	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1536C>T	19.37:g.38876366G>A						GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	p.S512S	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1668	-	all_cancers(60;3.4e-06)		512			Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	c.1536C>T	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	6.146	0.395081	0.11638	.	.	ENSG00000179168	ENST00000392116	.	.	.	2.14	-4.28	0.03732	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.37430	-0.9706	5	0.62326	D	0.03	.	1.243	0.01967	0.162:0.3835:0.2544:0.2	.	.	.	.	C	199	.	ENSP00000375963:R199C	R	-	1	0	GGN	43568206	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-3.484000	0.00455	-0.668000	0.05296	0.400000	0.26472	CGC		0.746	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		28	26	0	0	0	1	0	28	26					A	38876366	G	A	38876366	2	1	311	1	0	0	0	0	0	0	0	1	6358	1103	39	1		1	GGN	19	38876366	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2659702	38876366	20252617	569	31643											
RYR1	6261	broad.mit.edu	37	chr19	38974156	38974156	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacatccccgaggagaaccGgtcagggccagcccagctat	12	15	1	1	rs193922778		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	ENST00000359596.3	+	33	4934	c.4934G>A	c.(4933-4935)cGg>cAg	p.R1645Q	RYR1_ENST00000355481.4_Splice_Site_p.R1645Q|RYR1_ENST00000360985.3_Splice_Site_p.R1645Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1645	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)	GAGGAGAACCGGTCAGGGCCA	0.687																																						ENST00000355481.4																			0				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	GRCh37	CS081983	RYR1	S		c.e33+1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						8	8	8					19																	38974156		2158	4225	6383	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38974156G>A	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.4934+1G>A	19.37:g.38974156G>A						RYR1_ENST00000360985.3_Splice_Site_p.R1645_splice|RYR1_ENST00000359596.3_Splice_Site_p.R1645_splice	p.R1645_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		33	5065	+	all_cancers(60;7.91e-06)		1645			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37	c.4934_splice	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248761	0.80024	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97279	-4.32;-4.32;-4.32	5.0	5.0	0.66597	.	0.068370	0.53938	U	0.000057	D	0.98314	0.9441	M	0.78637	2.42	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.78314	0.99;0.991	D	0.99399	1.0927	10	0.66056	D	0.02	.	17.8849	0.88851	0.0:0.0:1.0:0.0	.	1645;1645	P21817-2;P21817	.;RYR1_HUMAN	Q	1645	ENSP00000352608:R1645Q;ENSP00000347667:R1645Q;ENSP00000354254:R1645Q	ENSP00000347667:R1645Q	R	+	2	0	RYR1	43665996	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.772000	0.98984	2.337000	0.79520	0.455000	0.32223	CGG		0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation	5	5	0	0	0	1	0	5	5					A	38974156	G	A	38974156	5	1	311	1	0	0	0	0	0	0	1	0	13768	1130	39	1	5064	1	RYR1	19	38974156	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	97790	38974156	20154827	570	31644											
LGALS4	3960	broad.mit.edu	37	chr19	39299582	39299582	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccaaccacaaagttcacGaagaacctggcgggacacaa	9	13	1	1	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	ENST00000307751.4	-	3	618	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	47	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15538	0.0		0.0	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(139-141)ttC>ttT		lectin, galactoside-binding, soluble, 4		G		0,4404		0,0,2202	54	44	47		141	-4	0	19	dbSNP_134	47	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	LGALS4	NM_006149.3		0,10,6492	AA,AG,GG		0.1163,0.0,0.0769		47/324	39299582	10,12994	2202	4300	6502	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299582G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.141C>T	19.37:g.39299582G>A						LGALS4_ENST00000597803.1_Intron	p.F47F	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	618	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		47			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.141C>T	CCDS12521.1																																																																																				0.642	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		7	19	0	0	0	1	0	7	19					A	39299582	G	A	39299582	2	1	311	1	0	0	0	0	0	0	0	1	8745	1049	37	1		1	LGALS4	19	39299582	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	325426	39299582	19829401	571	31645											
NCCRP1	342897	broad.mit.edu	37	chr19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctggtgggctgcggcGgacacgggtgaccgactcct	18	12	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(781-783)cGg>cAg		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							178	170	172					19																	39691350		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691350G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.782G>A	19.37:g.39691350G>A	ENSP00000342137:p.Arg261Gln						p.R261Q	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			6	804	+			261			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.782G>A	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490394	0.44249	.	.	ENSG00000188505	ENST00000339852	T	0.29655	1.56	4.96	3.91	0.45181	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.486350	0.21241	N	0.077801	T	0.23965	0.0580	L	0.45581	1.43	0.35047	D	0.760259	P	0.48294	0.908	B	0.36335	0.222	T	0.37842	-0.9688	10	0.45353	T	0.12	-24.0817	11.4656	0.50237	0.0899:0.0:0.9101:0.0	.	261	Q6ZVX7	NCRP1_HUMAN	Q	261	ENSP00000342137:R261Q	ENSP00000342137:R261Q	R	+	2	0	NCCRP1	44383190	0.997000	0.39634	0.940000	0.37924	0.053000	0.15095	3.904000	0.56325	1.091000	0.41335	0.484000	0.47621	CGG		0.632	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		196	246	0	0	0	1	0	196	246					A	39691350	G	A	39691350	3	1	311	1	0	0	0	0	1	0	0	0	10213	1116	39	1	804	1	NCCRP1	19	39691350	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	391768	39691350	19437633	572	31646											
PRX	57716	broad.mit.edu	37	chr19	40913824	40913824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcacctcggcactccGgctcctggcctccatggcgt	11	18	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	ENST00000324001.7	-	4	286	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_ENST00000599513.1_5'UTR|PRX_ENST00000291825.7_Missense_Mutation_p.R6W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	6					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627																																						ENST00000291825.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(16-18)Cgg>Tgg		periaxin							61	51	55					19																	40913824		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40913824G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.16C>T	19.37:g.40913824G>A	ENSP00000326018:p.Arg6Trp					PRX_ENST00000324001.7_Missense_Mutation_p.R6W|PRX_ENST00000599513.1_5'UTR	p.R6W	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	284	-			6					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.16C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547778	0.65311	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.50001	4.36;0.76	5.27	5.27	0.74061	.	0.872388	0.09919	N	0.738780	T	0.58722	0.2142	L	0.46157	1.445	0.32376	N	0.555193	D;D	0.76494	0.999;0.999	P;P	0.59288	0.798;0.855	T	0.61153	-0.7120	10	0.72032	D	0.01	-7.747	11.7809	0.52013	0.0:0.0:0.8243:0.1757	.	6;6	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	W	6	ENSP00000326018:R6W;ENSP00000291825:R6W	ENSP00000291825:R6W	R	-	1	2	PRX	45605664	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.491000	0.45303	2.623000	0.88846	0.561000	0.74099	CGG		0.627	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		23	62	0	0	0	1	0	23	62					A	40913824	G	A	40913824	3	1	311	1	0	0	0	0	1	0	0	0	12642	1115	39	1	4448	1	PRX	19	40913824	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1222474	40913824	18215159	573	31647											
LYPD4	147719	broad.mit.edu	37	chr19	42343292	42343292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagccccacaggacataCgaggcagagtggagatggcc	13	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	ENST00000330743.3	-	2	1279		c.e2+1		LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H|LYPD4_ENST00000601246.1_Missense_Mutation_p.R23H	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577																																						ENST00000601246.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(67-69)cGt>cAt		LY6/PLAUR domain containing 4							134	132	133					19																	42343292		2203	4300	6503	SO:0001630	splice_region_variant	147719					anchored to membrane|plasma membrane		g.chr19:42343292C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.67+1G>A	19.37:g.42343292C>T						LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H|LYPD4_ENST00000330743.3_Splice_Site	p.R23H			Q6UWN0	LYPD4_HUMAN			4	438	-			23					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.68G>A	CCDS12587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.18|15.18	2.756003|2.756003	0.49362|0.49362	.|.	.|.	ENSG00000183103|ENSG00000183103	ENST00000330743|ENST00000343055	.|T	.|0.13538	.|2.58	3.9|3.9	3.9|3.9	0.45041|0.45041	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24736	.|0.0600	.|.	.|.	.|.	0.27408|0.27408	N|N	0.954667|0.954667	.|D	.|0.76494	.|0.999	.|P	.|0.57960	.|0.83	.|T	.|0.02307	.|-1.1179	.|8	.|0.38643	.|T	.|0.18	.|.	11.6746|11.6746	0.51422|0.51422	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|23	.|Q6UWN0-2	.|.	.|H	-1|23	.|ENSP00000339568:R23H	.|ENSP00000339568:R23H	.|R	-|-	.|2	.|0	LYPD4|LYPD4	47035132|47035132	0.991000|0.991000	0.36638|0.36638	0.976000|0.976000	0.42696|0.42696	0.861000|0.861000	0.49209|0.49209	1.908000|1.908000	0.39907|0.39907	2.462000|2.462000	0.83206|0.83206	0.551000|0.551000	0.68910|0.68910	.|CGT		0.577	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	Intron	7	147	0	0	0	1	0	7	147					T	42343292	C	T	42343292	5	4	311	1	0	0	0	0	0	0	1	0	9112	550	19	1	688	1	LYPD4	19	42343292	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1429468	42343292	16785691	574	31648											
LIPE	3991	broad.mit.edu	37	chr19	42912409	42912409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtctcgttgcgtttgtaGtgctccccgaaggacaccag	11	13	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	ENST00000244289.4	-	3	1761	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	495					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)				TGCGTTTGTAGTGCTCCCCGA	0.627																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1483-1485)caC>caT		lipase, hormone-sensitive							196	192	194					19																	42912409		2203	4300	6503	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912409G>A	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.1485C>T	19.37:g.42912409G>A						LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	p.H495H	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			3	1761	-		Prostate(69;0.00682)	495					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.1485C>T	CCDS12607.1																																																																																				0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		45	211	0	0	0	1	0	45	211					A	42912409	G	A	42912409	2	1	311	1	0	0	0	0	0	0	0	1	8821	1020	36	2		2	LIPE	19	42912409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	569117	42912409	16216574	575	31649											
PSG8	440533	broad.mit.edu	37	chr19	43259265	43259265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatcctgttttcaatgggtCgctttaccctgggactgacc	11	11	1	1	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	ENST00000306511.4	-	4	960	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000404209.4_Missense_Mutation_p.R288Q|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	288	Ig-like C2-type 2.					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)				TTCAATGGGTCGCTTTACCCT	0.468																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(862-864)cGa>cAa		pregnancy specific beta-1-glycoprotein 8							77	83	81					19																	43259265		2203	4279	6482	SO:0001583	missense	0					extracellular region		g.chr19:43259265C>T	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.863G>A	19.37:g.43259265C>T	ENSP00000305005:p.Arg288Gln					PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q|PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R288Q	p.R288Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	959	-		Prostate(69;0.00899)	288			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.863G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.288	-0.981735	0.02197	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	1.38	-2.76	0.05896	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02888	0.0086	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B	0.32507	0.024;0.132;0.027;0.373;0.005;0.006	B;B;B;B;B;B	0.28784	0.014;0.069;0.007;0.094;0.006;0.01	T	0.32375	-0.9909	9	0.23302	T	0.38	.	3.1578	0.06510	0.3071:0.4435:0.0:0.2494	.	166;195;288;195;288;288	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	Q	288;166;195;100;195;288	ENSP00000385869:R288Q;ENSP00000385081:R166Q;ENSP00000386090:R195Q;ENSP00000305005:R288Q	ENSP00000305005:R288Q	R	-	2	0	PSG8	47951105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-2.408000	0.00573	-2.164000	0.00325	CGA		0.468	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			63	213	0	0	0	1	0	63	213					T	43259265	C	T	43259265	3	4	311	1	0	0	0	0	1	0	0	0	12661	884	31	1	446	1	PSG8	19	43259265	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	346856	43259265	15869718	576	31650											
APOE	348	broad.mit.edu	37	chr19	45411904	45411904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccaaggagctgcaggcGgcgcaggcccggctgggcgc	18	14	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	ENST00000252486.4	+	4	462	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	117	8 X 22 AA approximate tandem repeats.		A -> T (in form E3*; dbSNP:rs28931577).		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	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)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(349-351)gcG>gcA		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						19	16	17					19																	45411904		2187	4289	6476	SO:0001819	synonymous_variant	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411904G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.351G>A	19.37:g.45411904G>A							p.A117A	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	462	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	117		A -> T (in isoform E3*; dbSNP:rs28931577).	8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Silent	SNP	ENST00000252486.4	37	c.351G>A	CCDS12647.1																																																																																				0.682	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		3	13	0	0	0	1	0	3	13					A	45411904	G	A	45411904	2	1	311	1	0	0	0	0	0	0	0	1	802	1103	39	1		1	APOE	19	45411904	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2152639	45411904	13717079	577	31651											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885827	45885827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccctcctggccgtgcagCgcggcccaccaccagtcggt	12	18	0	0	rs377743128		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	ENST00000418234.2	-	12	2484	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_ENST00000360957.5_Silent_p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A802A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			1	Substitution - coding silent(1)	p.A802A(1)	lung(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2404-2406)gcG>gcA		protein phosphatase 1, regulatory subunit 13 like							43	44	43					19																	45885827		2202	4300	6502	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885827C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2406G>A	19.37:g.45885827C>T						PPP1R13L_ENST00000360957.5_Silent_p.A802A	p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2484	-		all_neural(266;0.224)|Ovarian(192;0.231)	802			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2406G>A	CCDS33050.1																																																																																				0.697	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		31	102	0	0	0	1	0	31	102					T	45885827	C	T	45885827	2	4	311	1	0	0	0	0	0	0	0	1	12358	755	27	1		1	PPP1R13L	19	45885827	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473923	45885827	13243156	578	31652											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522887	46522887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctcgtatacgagcccGtcttctccaatcaggaagct	9	15	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	ENST00000008938.4	-	2	349	c.306C>T	c.(304-306)gaC>gaT	p.D102D	CCDC61_ENST00000601763.1_Intron|MIR769_ENST00000390225.1_RNA	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	102					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|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)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592																																						ENST00000008938.4																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10						c.(304-306)gaC>gaT		peptidoglycan recognition protein 1							48	43	45					19																	46522887		2203	4300	6503	SO:0001819	synonymous_variant	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46522887G>A	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"peptidoglycan recognition protein"	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.306C>T	19.37:g.46522887G>A						CCDC61_ENST00000601763.1_Intron	p.D102D	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	2	349	-		all_neural(266;0.113)|Ovarian(192;0.127)	102					Q4VB36	Silent	SNP	ENST00000008938.4	37	c.306C>T	CCDS12680.1																																																																																				0.592	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		28	34	0	0	0	1	0	28	34					A	46522887	G	A	46522887	2	1	311	1	0	0	0	0	0	0	0	1	11793	1136	40	1		1	PGLYRP1	19	46522887	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	637060	46522887	12606096	579	31653											
GRIN2D	2906	broad.mit.edu	37	chr19	48908573	48908573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcggccacgactgtcgcGcccagaaccgcacccaccgc	10	20	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	ENST00000263269.3	+	3	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	350					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGACTGTCGCGCCCAGAACCG	0.652																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1048-1050)Gcc>Acc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						17	19	18					19																	48908573		2200	4295	6495	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908573G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1048G>A	19.37:g.48908573G>A	ENSP00000263269:p.Ala350Thr						p.A350T	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1136	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	350						Missense_Mutation	SNP	ENST00000263269.3	37	c.1048G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156114	0.38021	.	.	ENSG00000105464	ENST00000263269	T	0.05580	3.42	4.3	3.24	0.37175	.	0.370991	0.23098	N	0.051952	T	0.02848	0.0085	N	0.03948	-0.315	0.34029	D	0.65357	B	0.06786	0.001	B	0.01281	0.0	T	0.34428	-0.9829	10	0.12430	T	0.62	.	11.7287	0.51724	0.091:0.0:0.909:0.0	.	350	O15399	NMDE4_HUMAN	T	350	ENSP00000263269:A350T	ENSP00000263269:A350T	A	+	1	0	GRIN2D	53600385	0.796000	0.28864	0.877000	0.34402	0.982000	0.71751	1.885000	0.39678	0.902000	0.36520	0.561000	0.74099	GCC		0.652	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			17	7	0	0	0	1	0	17	7					A	48908573	G	A	48908573	3	1	311	1	0	0	0	0	1	0	0	0	6782	1087	38	1	1054	1	GRIN2D	19	48908573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2385686	48908573	10220410	580	31654											
TSKS	60385	broad.mit.edu	37	chr19	50265270	50265270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccctcaccaggatttcCgtgatgtctgcgtcatccgg	12	13	3	1	rs574376117		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	ENST00000246801.3	-	2	472	c.390G>A	c.(388-390)acG>acA	p.T130T	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	130					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)		CCAGGATTTCCGTGATGTCTG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16540	0.0		0.0	False		,,,				2504	0.0					ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(388-390)acG>acA		testis-specific serine kinase substrate							58	54	56					19																	50265270		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50265270C>T	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.390G>A	19.37:g.50265270C>T							p.T130T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	2	472	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	130					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.390G>A	CCDS12780.1																																																																																				0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		9	111	0	0	0	1	0	9	111					T	50265270	C	T	50265270	2	4	311	1	0	0	0	0	0	0	0	1	16623	639	23	1		1	TSKS	19	50265270	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1356697	50265270	8863713	581	31655											
POLD1	5424	broad.mit.edu	37	chr19	50912844	50912844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatggacggcagctggCgctgaaggtgagcgccaact	16	11	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	ENST00000440232.2	+	17	2128	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	POLD1_ENST00000599857.1_Missense_Mutation_p.A692V|POLD1_ENST00000595904.1_Missense_Mutation_p.A718V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	692					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)		CGGCAGCTGGCGCTGAAGGTG	0.672								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				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						c.(2074-2076)gCg>gTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							57	64	61					19																	50912844		2202	4300	6502	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50912844C>T		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.2075C>T	19.37:g.50912844C>T	ENSP00000406046:p.Ala692Val					POLD1_ENST00000595904.1_Missense_Mutation_p.A718V|POLD1_ENST00000599857.1_Missense_Mutation_p.A692V	p.A692V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	17	2128	+		all_neural(266;0.0571)	692					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2075C>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291279	0.95546	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.32272	1.46	4.38	4.38	0.52667	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85237	0.1036	10	0.87932	D	0	-22.6649	16.0916	0.81094	0.0:1.0:0.0:0.0	.	718;692	E7EVW0;P28340	.;DPOD1_HUMAN	V	692;693	ENSP00000406046:A692V	ENSP00000366129:A693V	A	+	2	0	POLD1	55604656	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	7.047000	0.76599	2.190000	0.69967	0.561000	0.74099	GCG		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			10	194	0	0	0	1	0	10	194					T	50912844	C	T	50912844	3	4	311	1	0	0	0	0	1	0	0	0	12190	768	27	1	2137	1	POLD1	19	50912844	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647574	50912844	8216139	582	31656											
SPIB	6689	broad.mit.edu	37	chr19	50926144	50926144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctatgaagccttcgacccGgcagcagccgcttttagcca	9	16	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	ENST00000595883.1	+	4	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000439922.2_Intron|CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.G198S|SPIB_ENST00000597855.1_Silent_p.P63P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662																																						ENST00000595883.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14						c.(187-189)ccG>ccA		Spi-B transcription factor (Spi-1/PU.1 related)							37	45	42					19																	50926144		2199	4289	6488	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926144G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.189G>A	19.37:g.50926144G>A						SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.P63P|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000596074.1_Intron	p.P63P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	4	214	+		all_neural(266;0.131)	63					A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	c.189G>A	CCDS33080.1																																																																																				0.662	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		50	136	0	0	0	1	0	50	136					A	50926144	G	A	50926144	2	1	311	1	0	0	0	0	0	0	0	1	15049	1103	39	1		1	SPIB	19	50926144	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13300	50926144	8202839	583	31657											
ZNF841	284371	broad.mit.edu	37	chr19	52569526	52569526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtaaggtttctctcCggtatgaattctctgatgta	8	7	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:52569526C>T	ENST00000426391.2	-	5	1812	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.G537R|ZNF841_ENST00000389534.4_Missense_Mutation_p.G537R|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	421					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						GGTTTCTCTCCGGTATGAATT	0.398																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1609-1611)Gga>Aga		zinc finger protein 841							84	79	80					19																	52569526		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569526C>T	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.1261G>A	19.37:g.52569526C>T	ENSP00000415453:p.Gly421Arg					ZNF841_ENST00000426391.2_Missense_Mutation_p.G421R|ZNF841_ENST00000594295.1_Missense_Mutation_p.G537R|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron	p.G537R	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2068	-			421					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1609G>A		.	.	.	.	.	.	.	.	.	.	C	19.43	3.825830	0.71143	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.26223	1.75;4.72	1.85	1.85	0.25348	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40498	0.1119	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.29549	-1.0008	9	0.66056	D	0.02	.	9.3548	0.38159	0.0:1.0:0.0:0.0	.	537;421	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	R	537;421	ENSP00000374185:G537R;ENSP00000415453:G421R	ENSP00000374185:G537R	G	-	1	0	ZNF841	57261338	0.000000	0.05858	0.262000	0.24481	0.796000	0.44982	0.845000	0.27668	1.350000	0.45770	0.313000	0.20887	GGA		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		10	25	0	0	0	1	0	10	25					T	52569526	C	T	52569526	3	4	311	1	0	0	0	0	1	0	0	0	18186	661	23	1	1169	1	ZNF841	19	52569526	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1643382	52569526	6559457	584	31658											
LILRB4	11006	broad.mit.edu	37	chr19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaggctcgggagtaccGtctggataaagaggaaagcc	15	9	1	1	rs377613190		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(175-177)cGt>cAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	186	173	178		176,176	-4.9	0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LILRB4	NM_001081438.1,NM_006847.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	59/448,59/449	55175317	1,13005	2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175317G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.176G>A	19.37:g.55175317G>A	ENSP00000375616:p.Arg59His					LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H	p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	5	491	+			59			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.176G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055662	0.01965	0.0	1.16E-4	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	2.43	-4.87	0.03123	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06416	0.0165	N	0.21097	0.63	0.09310	N	1	B;B;B;B;B;B	0.21381	0.033;0.055;0.027;0.0;0.004;0.045	B;B;B;B;B;B	0.24269	0.052;0.02;0.007;0.002;0.003;0.016	T	0.27502	-1.0072	9	0.29301	T	0.29	.	0.3278	0.00314	0.3454:0.1334:0.1862:0.335	.	59;59;59;59;59;100	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	H	100;59;59;59;59;59;59	ENSP00000375616:R59H;ENSP00000270452:R59H;ENSP00000408995:R59H;ENSP00000375614:R59H;ENSP00000375613:R59H;ENSP00000401962:R59H	ENSP00000270452:R59H	R	+	2	0	LILRB4	59867129	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-8.816000	0.00016	-3.203000	0.00216	-0.513000	0.04457	CGT		0.587	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			85	117	0	0	0	1	0	85	117					A	55175317	G	A	55175317	3	1	311	1	0	0	0	0	1	0	0	0	8793	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2605791	55175317	3953666	585	31659											
NLRP7	199713	broad.mit.edu	37	chr19	55451430	55451430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcagctcatcaaggccatCgaccacgaacaggattctct	7	13	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	ENST00000590030.1	-	3	797	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D253N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	253	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(757-759)Gat>Aat		NLR family, pyrin domain containing 7							102	103	102					19																	55451430		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451430C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.757G>A	19.37:g.55451430C>T	ENSP00000465520:p.Asp253Asn					NLRP7_ENST00000590030.1_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N	p.D253N			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1243	-			253			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.757G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116042	0.56505	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58	1.76	0.692	0.18050	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.98302	0.9437	M	0.87900	2.915	0.38168	D	0.93924	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	0.97487	1.0051	9	0.87932	D	0	.	6.392	0.21591	0.0:0.8285:0.0:0.1715	.	281;253;253;253	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	253;253;253;281	ENSP00000329568:D253N;ENSP00000409137:D253N;ENSP00000339491:D253N;ENSP00000414273:D281N	ENSP00000329568:D253N	D	-	1	0	NLRP7	60143242	0.999000	0.42202	0.005000	0.12908	0.010000	0.07245	5.474000	0.66781	0.306000	0.22856	0.462000	0.41574	GAT		0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		94	98	0	0	0	1	0	94	98					T	55451430	C	T	55451430	3	4	311	1	0	0	0	0	1	0	0	0	10482	884	31	1	2388	1	NLRP7	19	55451430	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	276113	55451430	3677553	586	31660											
NLRP2	55655	broad.mit.edu	37	chr19	55493635	55493635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttatggctgagagatacaAgatgctgatcccattcagca	11	8	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	ENST00000543010.1	+	6	712	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	190					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(568-570)aAg>aTg		NLR family, pyrin domain containing 2							136	143	140					19																	55493635		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493635A>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.569A>T	19.37:g.55493635A>T	ENSP00000445135:p.Lys190Met					NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M	p.K190M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	712	+			190					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.569A>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	4.661	0.122958	0.08931	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75589	-0.93;-0.84;-0.82;-0.93;-0.82;-0.95;-0.84;0.43	2.2	-1.45	0.08828	.	.	.	.	.	T	0.45577	0.1349	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.21606	0.034;0.058;0.034;0.058;0.034	B;B;B;B;B	0.20384	0.021;0.018;0.013;0.029;0.02	T	0.23476	-1.0187	9	0.49607	T	0.09	.	3.1895	0.06612	0.5494:0.0:0.2654:0.1852	.	167;168;187;166;190	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	190;166;168;190;168;167;166;187	ENSP00000445135:K190M;ENSP00000375601:K166M;ENSP00000344074:K168M;ENSP00000409370:K190M;ENSP00000440601:K168M;ENSP00000402474:K167M;ENSP00000441133:K166M;ENSP00000263437:K187M	ENSP00000263437:K187M	K	+	2	0	NLRP2	60185447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.422000	0.07043	-0.948000	0.03668	-2.655000	0.00148	AAG		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		56	168	0	0	0	1	0	56	168					T	55493635	A	T	55493635	3	4	311	1	0	0	0	0	1	0	0	0	10477	72	3	5	587	5	NLRP2	19	55493635	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	42205	55493635	3635348	587	31661											
NLRP2	55655	broad.mit.edu	37	chr19	55494882	55494882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacctgcaggagctcCtcggctgtctgtacgagtct	12	12	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	ENST00000543010.1	+	6	1959	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	606					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1816-1818)Ctc>Ttc		NLR family, pyrin domain containing 2							93	80	84					19																	55494882		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494882C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1816C>T	19.37:g.55494882C>T	ENSP00000445135:p.Leu606Phe					NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F	p.L606F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1959	+			606					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1816C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	6.013	0.370786	0.11409	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	1.94	-3.88	0.04205	.	1.447910	0.05545	N	0.566398	T	0.35248	0.0925	L	0.35793	1.09	0.09310	N	1	P;B;B;B;B	0.41475	0.751;0.375;0.413;0.375;0.413	P;B;B;B;B	0.49301	0.606;0.338;0.294;0.338;0.294	T	0.29027	-1.0025	10	0.02654	T	1	.	0.3227	0.00306	0.225:0.2968:0.1868:0.2914	.	583;584;603;582;606	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	F	606;582;584;606;584;583;582;603	ENSP00000445135:L606F;ENSP00000375601:L582F;ENSP00000344074:L584F;ENSP00000409370:L606F;ENSP00000440601:L584F;ENSP00000402474:L583F;ENSP00000441133:L582F;ENSP00000263437:L603F	ENSP00000263437:L603F	L	+	1	0	NLRP2	60186694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.353000	0.20130	-1.450000	0.01936	-1.036000	0.02392	CTC		0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		31	39	0	0	0	1	0	31	39					T	55494882	C	T	55494882	3	4	311	1	0	0	0	0	1	0	0	0	10477	681	24	2	1834	2	NLRP2	19	55494882	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1247	55494882	3634101	588	31662											
SBK2	646643	broad.mit.edu	37	chr19	56041301	56041301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcccggggctggcccgaCgcctgccagatgaggaagtc	16	14	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	ENST00000413299.1	-	4	883	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SBK2_ENST00000344158.3_Silent_p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(844-846)gcG>gcA		SH3 domain binding kinase family, member 2							3	4	3					19																	56041301		1572	3527	5099	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041301C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.846G>A	19.37:g.56041301C>T						SBK2_ENST00000344158.3_Silent_p.A282A	p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	883	-			282			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.846G>A	CCDS42631.1																																																																																				0.731	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		4	6	0	0	0	1	0	4	6					T	56041301	C	T	56041301	2	4	311	1	0	0	0	0	0	0	0	1	13861	523	19	1		1	SBK2	19	56041301	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	546419	56041301	3087682	589	31663											
ZNF835	90485	broad.mit.edu	37	chr19	57176021	57176021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcgtgcgccagtgggaCgccaggtacgagccctggct	17	12	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	ENST00000537055.2	-	2	777	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(544-546)gcG>gcA		zinc finger protein 835							18	19	18					19																	57176021		2199	4297	6496	SO:0001819	synonymous_variant	90485							g.chr19:57176021C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.546G>A	19.37:g.57176021C>T							p.A182A	NM_001005850.2	NP_001005850.2					2	777	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.546G>A	CCDS56105.1																																																																																				0.716	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		8	21	0	0	0	1	0	8	21					T	57176021	C	T	57176021	2	4	311	1	0	0	0	0	0	0	0	1	18183	523	19	1		1	ZNF835	19	57176021	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1134720	57176021	1952962	590	31664											
ZNF416	55659	broad.mit.edu	37	chr19	58084870	58084870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtcctggtgaaagacCgcacatgccccagtcaagta	10	12	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	ENST00000196489.3	-	4	624	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	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)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		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;0.0259)		GGTGAAAGACCGCACATGCCC	0.502																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(400-402)gcG>gcA		zinc finger protein 416							106	85	92					19																	58084870		2203	4300	6503	SO:0001819	synonymous_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084870C>T	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.402G>A	19.37:g.58084870C>T							p.A134A	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	624	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	134					Q9NWW8	Silent	SNP	ENST00000196489.3	37	c.402G>A	CCDS12954.1																																																																																				0.502	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		14	51	0	0	0	1	0	14	51					T	58084870	C	T	58084870	2	4	311	1	0	0	0	0	0	0	0	1	17890	639	23	1		1	ZNF416	19	58084870	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	908849	58084870	1044113	591	31665											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596148	58596148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggcttcgcgggtggaCggttgggggccccgggcgcc	21	13	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000421612.2_Silent_p.P343P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1435-1437)ccG>ccA		zinc finger and SCAN domain containing 18							10	11	11					19																	58596148		2142	4192	6334	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596148C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1437G>A	19.37:g.58596148C>T						ZSCAN18_ENST00000421612.2_Silent_p.P343P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P	p.P479P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1836	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	479					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1437G>A	CCDS12971.1																																																																																				0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		5	12	0	0	0	1	0	5	12					T	58596148	C	T	58596148	2	4	311	1	0	0	0	0	0	0	0	1	18227	523	19	1		1	ZSCAN18	19	58596148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	511278	58596148	532835	592	31666											
ZNF324B	388569	broad.mit.edu	37	chr19	58967425	58967425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcgtccttatgcttgcGcacagtgtggccgccgcttc	14	13	0	0	rs371577190		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	ENST00000336614.4	+	4	1221	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	ZNF324B_ENST00000391696.1_Missense_Mutation_p.A362T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	372					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)Gca>Aca		zinc finger protein 324B							17	17	17					19																	58967425		2194	4265	6459	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967425G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1114G>A	19.37:g.58967425G>A	ENSP00000337473:p.Ala372Thr					ZNF324B_ENST00000336614.4_Missense_Mutation_p.A372T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T	p.A362T			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	2016	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	372					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1084G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247877	0.39697	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07567	3.18;3.18;3.18	2.66	0.43	0.16515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.361266	0.20400	N	0.093078	T	0.02119	0.0066	N	0.02142	-0.665	0.09310	N	1	B;B	0.30439	0.279;0.017	B;B	0.26094	0.066;0.009	T	0.40942	-0.9536	10	0.23891	T	0.37	.	2.2846	0.04123	0.306:0.0:0.4534:0.2405	.	372;362	Q6AW86;C9JTQ8	Z324B_HUMAN;.	T	372;372;362	ENSP00000337473:A372T;ENSP00000438930:A372T;ENSP00000375578:A362T	ENSP00000337473:A372T	A	+	1	0	ZNF324B	63659237	0.000000	0.05858	0.001000	0.08648	0.938000	0.57974	-0.505000	0.06367	0.165000	0.19558	0.591000	0.81541	GCA		0.657	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		4	54	0	0	0	1	0	4	54					A	58967425	G	A	58967425	3	1	311	1	0	0	0	0	1	0	0	0	17842	1087	38	1	1124	1	ZNF324B	19	58967425	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	371277	58967425	161558	593	31667											
FAM113A	64773	broad.mit.edu	37	chr20	2820527	2820527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgcttcgcagcgggcggCgcggctcctcgctcgacaga	15	15	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:2820527C>T	ENST00000360652.2	-	2	534	c.32G>A	c.(31-33)cGc>cAc	p.R11H	VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R11H|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	11																	CAGCGGGCGGCGCGGCTCCTC	0.637																																						ENST00000360652.2																			0											c.(31-33)cGc>cAc		PC-esterase domain containing 1A							79	72	75					20																	2820527		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2820527C>T	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.32G>A	20.37:g.2820527C>T	ENSP00000353868:p.Arg11His					PCED1A_ENST00000356872.3_Missense_Mutation_p.R11H	p.R11H	NM_022760.3	NP_073597.2					2	534	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.32G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928157	0.34002	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.52057	0.69;0.68;0.73;0.7	3.83	1.58	0.23477	.	0.642678	0.13025	N	0.419754	T	0.22936	0.0554	N	0.08118	0	0.25671	N	0.985895	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.19128	-1.0315	10	0.22109	T	0.4	-1.254	6.0163	0.19605	0.0:0.7786:0.0:0.2214	.	11;11	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	H	11	ENSP00000349334:R11H;ENSP00000353868:R11H;ENSP00000388935:R11H;ENSP00000401711:R11H	ENSP00000349334:R11H	R	-	2	0	FAM113A	2768527	0.797000	0.28877	0.592000	0.28758	0.736000	0.42039	0.482000	0.22276	0.411000	0.25702	0.655000	0.94253	CGC		0.637	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		35	42	0	0	0	1	0	35	42					T	2820527	C	T	2820527	3	4	311	1	0	0	0	0	1	0	0	0	5401	768	27	1	1360	1	FAM113A	20	2820527	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2820527	60204993	594	31668											
MAVS	57506	broad.mit.edu	37	chr20	3845039	3845041	+	In_Frame_Del	DEL	CTC	CTC	-													gtatctactggcacctccttCtcctcctcatcccctggctt							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	ENST00000428216.2	+	6	890_892	c.762_764delCTC	c.(760-765)ttctcc>ttc	p.S258del	MAVS_ENST00000416600.2_In_Frame_Del_p.S117del|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	258					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						GCACCTCCTTCTCCTCCTCATCC	0.626																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(760-765)ttc>tt		mitochondrial antiviral signaling protein																																				SO:0001651	inframe_deletion	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845039_3845041delCTC	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.762_764delCTC	20.37:g.3845045_3845047delCTC	ENSP00000401980:p.Ser258del					MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_In_Frame_Del_p.FS113del	p.FS254del	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	890_892	+			254					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	In_Frame_Del	DEL	ENST00000428216.2	37	c.762_764delCTC	CCDS33437.1																																																																																				0.626	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		53	115						53	115	---	---	---	---	-	3845041	CTC	-	3845039	7	5	311	1	0	1	0	1	0	0	0	0	9338	912	32	0	780	0	MAVS	20	3845039	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	1024512	3845039	59180481	595	31669											
BFSP1	631	broad.mit.edu	37	chr20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggccacctcccgctccGtcaggagcttctcctgcaca	11	18	2	0	rs577981820		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	ENST00000377873.3	-	5	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	214	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16012	0.001		0.0	False		,,,				2504	0.0					ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(640-642)aCg>aTg		beaded filament structural protein 1, filensin							11	11	11					20																	17489628		2199	4280	6479	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17489628G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.641C>T	20.37:g.17489628G>A	ENSP00000367104:p.Thr214Met					BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M|BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M	p.T214M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			5	680	-			214			Coil 2.|Rod.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.641C>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432587	0.25813	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.87256	-2.23;1.44;1.44;1.44	5.35	2.37	0.29283	.	0.364685	0.30940	N	0.008569	T	0.80215	0.4582	M	0.63428	1.95	0.20074	N	0.999935	P;P	0.46859	0.789;0.885	B;B	0.31337	0.128;0.086	T	0.71928	-0.4444	10	0.62326	D	0.03	-10.1934	9.6988	0.40173	0.2284:0.0:0.7716:0.0	.	89;214	Q12934-2;Q12934	.;BFSP1_HUMAN	M	214;89;75;75	ENSP00000367104:T214M;ENSP00000367099:T89M;ENSP00000442522:T75M;ENSP00000439870:T75M	ENSP00000367099:T89M	T	-	2	0	BFSP1	17437628	1.000000	0.71417	0.047000	0.18901	0.664000	0.39144	4.773000	0.62331	0.348000	0.23949	-0.266000	0.10368	ACG		0.647	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		11	17	0	0	0	1	0	11	17					A	17489628	G	A	17489628	3	1	311	1	0	0	0	0	1	0	0	0	1415	1145	40	1	1372	1	BFSP1	20	17489628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13644589	17489628	45535892	596	31670											
PLAGL2	5326	broad.mit.edu	37	chr20	30789887	30789887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgactctccgcctccCggccccgaggcctgggaact	10	18	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	ENST00000246229.4	-	2	359	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	32					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(94-96)cGg>cAg		pleiomorphic adenoma gene-like 2							73	74	74					20																	30789887		2203	4298	6501	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789887C>T		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.95G>A	20.37:g.30789887C>T	ENSP00000246229:p.Arg32Gln						p.R32Q	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	359	-			32					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.95G>A	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619522	0.66787	.	.	ENSG00000126003	ENST00000246229	T	0.08807	3.05	4.55	4.55	0.56014	.	0.247205	0.33610	N	0.004726	T	0.07143	0.0181	L	0.42632	1.34	0.44985	D	0.998009	B	0.32731	0.382	B	0.20384	0.029	T	0.15492	-1.0435	10	0.52906	T	0.07	.	9.6313	0.39780	0.0:0.8953:0.0:0.1047	.	32	Q9UPG8	PLAL2_HUMAN	Q	32	ENSP00000246229:R32Q	ENSP00000246229:R32Q	R	-	2	0	PLAGL2	30253548	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.789000	0.55454	2.334000	0.79466	0.563000	0.77884	CGG		0.567	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		30	111	0	0	0	1	0	30	111					T	30789887	C	T	30789887	3	4	311	1	0	0	0	0	1	0	0	0	12020	652	23	1	1403	1	PLAGL2	20	30789887	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13300259	30789887	32235633	597	31671											
DNMT3B	1789	broad.mit.edu	37	chr20	31368261	31368261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggctatccgcaccccGgagatcagaggtggctgggc	16	12	1	2	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	ENST00000328111.2	+	2	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	44	Interaction with DNMT1 and DNMT3A.				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 on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(130-132)ccG>ccA		DNA (cytosine-5-)-methyltransferase 3 beta		G	,,,,,	0,4404		0,0,2202	22	25	24		132,132,132,132,132,168	-1.6	1	20	dbSNP_134	24	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	44/729,44/695,44/854,44/834,44/771,56/846	31368261	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31368261G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.132G>A	20.37:g.31368261G>A						DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P	p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			2	453	+			44			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.132G>A	CCDS13205.1																																																																																				0.652	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		13	39	0	0	0	1	0	13	39					A	31368261	G	A	31368261	2	1	311	1	0	0	0	0	0	0	0	1	4677	1103	39	1		1	DNMT3B	20	31368261	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	578374	31368261	31657259	598	31672											
C20orf186	149954	broad.mit.edu	37	chr20	31671678	31671678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgtgcaaggcatcacGgggtaaggaggggacgggtt	18	7	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31671678G>A	ENST00000375483.3	+	3	675	c.675G>A	c.(673-675)acG>acA	p.T225T		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	225	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AAGGCATCACGGGGTAAGGAG	0.627																																						ENST00000375483.3																			0											c.(673-675)acG>acA		BPI fold containing family B, member 4							30	34	33					20																	31671678		2173	4244	6417	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671678G>A	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.675G>A	20.37:g.31671678G>A							p.T225T	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	675	+			225			Gly-rich.		Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.675G>A	CCDS13213.2																																																																																				0.627	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		44	52	0	0	0	1	0	44	52					A	31671678	G	A	31671678	2	1	311	1	0	0	0	0	0	0	0	1	2098	1103	39	1		1	C20orf186	20	31671678	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	303417	31671678	31353842	599	31673											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122560	33122560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacgatctcaccttccttCgaattcgctccaagaaaaat	5	12	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	ENST00000357156.2	+	3	258	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_ENST00000417166.2_Nonsense_Mutation_p.R70*|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	70					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537																																						ENST00000417166.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(208-210)Cga>Tga		dynein, light chain, roadblock-type 1							111	89	96					20																	33122560		2203	4300	6503	SO:0001587	stop_gained	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122560C>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.208C>T	20.37:g.33122560C>T	ENSP00000349679:p.Arg70*					DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000357156.2_Nonsense_Mutation_p.R70*	p.R70*			Q9NP97	DLRB1_HUMAN			3	241	+			70					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Nonsense_Mutation	SNP	ENST00000357156.2	37	c.208C>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	37	6.182305	0.97352	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0706	18.2245	0.89913	0.0:1.0:0.0:0.0	.	.	.	.	X	70;70;122	.	ENSP00000349679:R70X	R	+	1	2	DYNLRB1	32586221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.694000	0.61760	2.639000	0.89480	0.655000	0.94253	CGA		0.537	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		45	58	0	0	0	1	0	45	58					T	33122560	C	T	33122560	4	4	311	1	0	0	0	0	0	1	0	0	4850	876	31	1	218	1	DYNLRB1	20	33122560	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1450882	33122560	29902960	600	31674											
EPB41L1	2036	broad.mit.edu	37	chr20	34770234	34770234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacagtcaagttctacccGcctgatcctgcccagctgac	7	16	3	2	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	ENST00000338074.2	+	6	692	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000441639.1_Silent_p.P115P|EPB41L1_ENST00000373950.2_Silent_p.P80P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(529-531)ccG>ccA		erythrocyte membrane protein band 4.1-like 1							99	85	90					20																	34770234		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34770234G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.531G>A	20.37:g.34770234G>A						EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000373950.2_Silent_p.P80P|EPB41L1_ENST00000441639.1_Silent_p.P115P	p.P177P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			6	692	+	Breast(12;0.0239)		177			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.531G>A	CCDS13271.1																																																																																				0.582	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		38	69	0	0	0	1	0	38	69					A	34770234	G	A	34770234	2	1	311	1	0	0	0	0	0	0	0	1	5152	1074	38	1		1	EPB41L1	20	34770234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1647674	34770234	28255286	601	31675											
DHX35	60625	broad.mit.edu	37	chr20	37659354	37659354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgttccaaggaccatcCgtgatgaccatgagctgcac	9	12	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	ENST00000252011.3	+	20	1924	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_ENST00000373325.2_Intron|DHX35_ENST00000373323.4_Missense_Mutation_p.R600C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	631					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1891-1893)Cgt>Tgt		DEAH (Asp-Glu-Ala-His) box polypeptide 35							123	101	109					20																	37659354		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37659354C>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1891C>T	20.37:g.37659354C>T	ENSP00000252011:p.Arg631Cys					DHX35_ENST00000373323.4_Missense_Mutation_p.R600C|DHX35_ENST00000373325.2_Intron	p.R631C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			20	1924	+		Myeloproliferative disorder(115;0.00878)	631					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1891C>T	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279248	0.80692	.	.	ENSG00000101452	ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T	0.34275	3.92;3.92;1.37	5.76	4.81	0.61882	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.90650	3.135	0.80722	D	1	P;D	0.89917	0.874;1.0	B;D	0.73380	0.247;0.98	T	0.75548	-0.3279	10	0.62326	D	0.03	.	16.0891	0.81080	0.0:0.8654:0.1346:0.0	.	600;631	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	C	631;600;111;95	ENSP00000252011:R631C;ENSP00000362420:R600C;ENSP00000397997:R95C	ENSP00000252011:R631C	R	+	1	0	DHX35	37092768	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.636000	0.61339	1.564000	0.49628	0.655000	0.94253	CGT		0.438	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		40	100	0	0	0	1	0	40	100					T	37659354	C	T	37659354	3	4	311	1	0	0	0	0	1	0	0	0	4508	652	23	1	1969	1	DHX35	20	37659354	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2889120	37659354	25366166	602	31676											
GTSF1L	149699	broad.mit.edu	37	chr20	42354972	42354972	+	Frame_Shift_Del	DEL	A	A	-													tcacaaacaaccttttgaggAaaaaaagtcttaaggacaaa							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	ENST00000373003.1	-	1	666	c.363delT	c.(361-363)tttfs	p.F121fs	GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	121							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493																																						ENST00000373003.1																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(361-363)ttfs		gametocyte specific factor 1-like							100	92	94					20																	42354972		2203	4300	6503	SO:0001589	frameshift_variant	149699						metal ion binding	g.chr20:42354972delA	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.363delT	20.37:g.42354972delA	ENSP00000362094:p.Phe121fs					GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	p.F121fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	666	-		Myeloproliferative disorder(115;0.00452)	121					Q5JWH5	Frame_Shift_Del	DEL	ENST00000373003.1	37	c.363delT	CCDS13323.1																																																																																				0.493	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791		18	112						18	112	---	---	---	---	-	42354972	A	-	42354972	7	5	311	1	0	1	0	1	0	0	0	0	6887	243	9	0	87	0	GTSF1L	20	42354972	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	4695618	42354972	20670548	603	31677											
CDH22	64405	broad.mit.edu	37	chr20	44838993	44838993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgcgccgtcaccacgccGaccagggagcccacctgcgc	11	21	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	ENST00000372262.3	-	6	1639	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1237-1239)gtC>gtT		cadherin 22, type 2							2	3	3					20																	44838993		1641	3403	5044	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44838993G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1239C>T	20.37:g.44838993G>A						CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V413V	p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1639	-		Myeloproliferative disorder(115;0.0122)	413			Cadherin 4.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1239C>T	CCDS13395.1																																																																																				0.771	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		6	4	0	0	0	1	0	6	4					A	44838993	G	A	44838993	2	1	311	1	0	0	0	0	0	0	0	1	3107	1045	37	1		1	CDH22	20	44838993	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2484021	44838993	18186527	604	31678											
SLC13A3	64849	broad.mit.edu	37	chr20	45217829	45217829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttctggtattcttccCgaattacagctcgagcccta	8	13	2	0	rs200657221		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	ENST00000279027.4	-	7	1004	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	329					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(985-987)cGg>cAg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						116	118	117					20																	45217829		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45217829C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.986G>A	20.37:g.45217829C>T	ENSP00000279027:p.Arg329Gln					SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q	p.R329Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			7	1004	-		Myeloproliferative disorder(115;0.0122)	329					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.986G>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207716	0.06180	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.10477	4.31;4.31;4.31;4.31;4.31;4.31;4.31;2.87;2.87	5.84	-2.32	0.06745	.	0.994059	0.08185	N	0.984765	T	0.04227	0.0117	N	0.04320	-0.23	0.31234	N	0.695949	B;B;B;B	0.18461	0.028;0.002;0.003;0.01	B;B;B;B	0.14578	0.007;0.004;0.004;0.011	T	0.50189	-0.8857	10	0.11182	T	0.66	-2.8817	8.9573	0.35825	0.0:0.2729:0.1118:0.6153	.	279;282;282;329	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	Q	282;282;329;282;279;282;282;242;279	ENSP00000290317:R282Q;ENSP00000379648:R282Q;ENSP00000279027:R329Q;ENSP00000420177:R282Q;ENSP00000415852:R279Q;ENSP00000419621:R282Q;ENSP00000417784:R282Q;ENSP00000395095:R242Q;ENSP00000361193:R279Q	ENSP00000279027:R329Q	R	-	2	0	SLC13A3	44651236	0.030000	0.19436	0.965000	0.40720	0.576000	0.36127	-0.163000	0.09997	-0.366000	0.08064	0.650000	0.86243	CGG		0.502	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			24	130	0	0	0	1	0	24	130					T	45217829	C	T	45217829	3	4	311	1	0	0	0	0	1	0	0	0	14393	652	23	1	850	1	SLC13A3	20	45217829	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	378836	45217829	17807691	605	31679											
PREX1	57580	broad.mit.edu	37	chr20	47266679	47266679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtccaggccacacagCgggtggggctccaggggggc	18	12	0	1	rs368665525		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	ENST00000371941.3	-	24	2905	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_ENST00000396220.1_Silent_p.P961P	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					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)			GGCCACACAGCGGGTGGGGCT	0.592																																						ENST00000396220.1																			0				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						c.(2881-2883)ccG>ccA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1		C		0,4406		0,0,2203	83	92	89		2883	-11.4	0	20		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PREX1	NM_020820.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		961/1660	47266679	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266679C>T	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.2883G>A	20.37:g.47266679C>T						PREX1_ENST00000371941.3_Silent_p.P961P	p.P961P			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	2905	-			961					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.2883G>A	CCDS13410.1																																																																																				0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		78	163	0	0	0	1	0	78	163					T	47266679	C	T	47266679	2	4	311	1	0	0	0	0	0	0	0	1	12476	755	27	1		1	PREX1	20	47266679	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2048850	47266679	15758841	606	31680											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-													ggaaaccgggagggtaggaaCccccccactctggatcacag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	ENST00000217086.4	-	4	3094	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					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						AGGGTAGGAACCCCCCCACTC	0.562																																						ENST00000217086.4																			0				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						c.(2983-2985)ttfs		spalt-like transcription factor 4							74	70	72					20																	50400983		2203	4300	6503	SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400983delC	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.2983delG	20.37:g.50400983delC	ENSP00000217086:p.Val995fs					SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs	p.V995fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3094	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.2983delG	CCDS13438.1																																																																																				0.562	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			24	116						24	116	---	---	---	---	-	50400983	C	-	50400983	7	5	311	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	3134304	50400983	12624537	607	31681											
ZNF831	128611	broad.mit.edu	37	chr20	57769140	57769140	+	Frame_Shift_Del	DEL	G	G	-													gggagaaaaggggcacagttGgggggggacaagggggacag					rs55786258	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	ENST00000371030.2	+	1	3066	c.3066delG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D1025fs*9(1)		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)					GGGCACAGTTGGGGGGGGACA	0.682																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.D1025fs*9(1)	large_intestine(1)	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						c.(3064-3066)ttfs		zinc finger protein 831				21,3757		2,17,1870	19	23	21			-6.1	0	20		22	131,7817		51,29,3894	no	frameshift	ZNF831	NM_178457.1		53,46,5764	A1A1,A1R,RR		1.6482,0.5558,1.2963			57769140	152,11574	1993	4167	6160	SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769140delG	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.3066delG	20.37:g.57769140delG	ENSP00000360069:p.Leu1022fs						p.L1022fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3066	+	all_lung(29;0.0085)		1022					Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	c.3066delG	CCDS42894.1																																																																																				0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		18	57						18	57	---	---	---	---	-	57769140	G	-	57769140	7	5	311	1	0	1	0	1	0	0	0	0	18182	1339	47	0	3068	0	ZNF831	20	57769140	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	7368157	57769140	5256380	608	31682											
CDH4	1002	broad.mit.edu	37	chr20	60503309	60503309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgacatcaacgacaaCgcccctgagctgctgcccaa	7	16	2	2	rs368405359		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4. {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)			TCAACGACAACGCCCCTGAGC	0.627																																						ENST00000360469.5																			0				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						c.(1831-1833)aaC>aaT		cadherin 4, type 1, R-cadherin (retinal)		C		1,4405	2.1+/-5.4	0,1,2202	131	141	138		1833	-7	0.8	20		138	0,8600		0,0,4300	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		611/917	60503309	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503309C>T	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.1833C>T	20.37:g.60503309C>T						CDH4_ENST00000543233.1_Silent_p.N537N	p.N611N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	1921	+			611			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1833C>T	CCDS13488.1																																																																																				0.627	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		82	354	0	0	0	1	0	82	354					T	60503309	C	T	60503309	2	4	311	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2734169	60503309	2522211	609	31683											
CDH4	1002	broad.mit.edu	37	chr20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgcccaactcagcttgCgcatcctgtacctggaggcc	9	15	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	ENST00000360469.5	+	13	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	677	Cadherin 5. {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)			ACTCAGCTTGCGCATCCTGTA	0.532																																						ENST00000360469.5																			0				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						c.(2029-2031)Cgc>Tgc		cadherin 4, type 1, R-cadherin (retinal)							118	88	98					20																	60504690		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504690C>T	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.2029C>T	20.37:g.60504690C>T	ENSP00000353656:p.Arg677Cys					CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	p.R677C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2117	+			677			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2029C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837098	0.71373	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61392	0.11;0.11	4.14	3.18	0.36537	Cadherin (3);Cadherin-like (1);	0.056069	0.64402	D	0.000002	T	0.76018	0.3929	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.78478	-0.2188	9	.	.	.	.	11.3248	0.49442	0.3281:0.6718:0.0:0.0	.	677	P55283	CADH4_HUMAN	C	677;585;603	ENSP00000353656:R677C;ENSP00000443301:R603C	.	R	+	1	0	CDH4	59938085	0.002000	0.14202	0.994000	0.49952	0.871000	0.50021	-0.065000	0.11617	0.699000	0.31761	0.561000	0.74099	CGC		0.532	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		37	105	0	0	0	1	0	37	105					T	60504690	C	T	60504690	3	4	311	1	0	0	0	0	1	0	0	0	3112	768	27	1	2079	1	CDH4	20	60504690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1381	60504690	2520830	610	31684											
TAF4	6874	broad.mit.edu	37	chr20	60574065	60574065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcatcaggatctcccGctcctgctcatccttcctct	5	19	5	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	ENST00000252996.4	-	12	2886	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	963					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)			AGGATCTCCCGCTCCTGCTCA	0.557																																						ENST00000252996.3																			0				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						c.(2887-2889)Cgg>Tgg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							208	204	205					20																	60574065		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574065G>A	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.2887C>T	20.37:g.60574065G>A	ENSP00000252996:p.Arg963Trp						p.R963W	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2886	-	Breast(26;1e-08)		963					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2887C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092425	0.36952	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.33865	1.4;1.39	5.18	2.62	0.31277	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64279	-0.6445	10	0.87932	D	0	-16.4851	12.8042	0.57603	0.0:0.0:0.4052:0.5948	.	963	O00268	TAF4_HUMAN	W	963;827	ENSP00000252996:R963W;ENSP00000399091:R827W	ENSP00000252996:R963W	R	-	1	2	TAF4	60007460	1.000000	0.71417	0.502000	0.27614	0.003000	0.03518	2.405000	0.44548	0.188000	0.20168	-0.310000	0.09108	CGG		0.557	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		178	279	0	0	0	1	0	178	279					A	60574065	G	A	60574065	3	1	311	1	0	0	0	0	1	0	0	0	15523	1086	38	1	386	1	TAF4	20	60574065	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	69375	60574065	2451455	611	31685											
LAMA5	3911	broad.mit.edu	37	chr20	60905854	60905854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccacagcggtggggggcCgaggtcggggtccagctggg	22	10	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	ENST00000252999.3	-	30	3863	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1266	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTGGGGGGCCGAGGTCGGGG	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(3796-3798)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						9	13	12					20																	60905854		2132	4239	6371	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60905854C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3797G>A	20.37:g.60905854C>T	ENSP00000252999:p.Arg1266Gln						p.R1266Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		30	3863	-	Breast(26;1.57e-08)		1266			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.3797G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893993	0.33442	.	.	ENSG00000130702	ENST00000252999	T	0.18960	2.18	5.15	5.15	0.70609	.	0.201859	0.41294	D	0.000903	T	0.20373	0.0490	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.59546	0.859	T	0.11494	-1.0585	10	0.18276	T	0.48	.	13.5729	0.61858	0.1557:0.8443:0.0:0.0	.	1266	O15230	LAMA5_HUMAN	Q	1266	ENSP00000252999:R1266Q	ENSP00000252999:R1266Q	R	-	2	0	LAMA5	60339249	1.000000	0.71417	0.999000	0.59377	0.129000	0.20672	2.641000	0.46587	2.385000	0.81259	0.655000	0.94253	CGG		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	7	0	0	0	1	0	3	7					T	60905854	C	T	60905854	3	4	311	1	0	0	0	0	1	0	0	0	8609	652	23	1	7494	1	LAMA5	20	60905854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	331789	60905854	2119666	612	31686											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288352	61288352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgctgcttatgggcacGgggtcgctggtgttcgcgct	18	10	0	0	rs147575435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	ENST00000370507.1	+	1	642	c.546G>A	c.(544-546)acG>acA	p.T182T	SLCO4A1_ENST00000217159.1_Silent_p.T182T			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	182					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)	TTATGGGCACGGGGTCGCTGG	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.0				Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(544-546)acG>acA		solute carrier organic anion transporter family, member 4A1							45	41	43					20																	61288352		2202	4298	6500	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288352G>A	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.546G>A	20.37:g.61288352G>A						SLCO4A1_ENST00000370507.1_Silent_p.T182T	p.T182T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	751	+	Breast(26;3.65e-08)		182					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.546G>A	CCDS13501.1																																																																																				0.687	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		13	103	0	0	0	1	0	13	103					A	61288352	G	A	61288352	2	1	311	1	0	0	0	0	0	0	0	1	14729	1103	39	1		1	SLCO4A1	20	61288352	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	382498	61288352	1737168	613	31687											
PRIC285	85441	broad.mit.edu	37	chr20	62195519	62195519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtgctggctgccaccgCagaggcgtgaccgtccgcgt	17	14	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62195519C>T	ENST00000467148.1	-	8	4725	c.4656G>A	c.(4654-4656)ctG>ctA	p.L1552L	HELZ2_ENST00000427522.2_Silent_p.L983L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1552					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)										GCTGCCACCGCAGAGGCGTGA	0.647																																						ENST00000467148.1																			0											c.(4654-4656)ctG>ctA		helicase with zinc finger 2, transcriptional coactivator							23	18	20					20																	62195519		2186	4292	6478	SO:0001819	synonymous_variant	85441							g.chr20:62195519C>T	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.4656G>A	20.37:g.62195519C>T						HELZ2_ENST00000427522.2_Silent_p.L983L	p.L1552L	NM_001037335.2	NP_001032412.2					8	4725	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4656G>A	CCDS33508.1																																																																																				0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		12	35	0	0	0	1	0	12	35					T	62195519	C	T	62195519	2	4	311	1	0	0	0	0	0	0	0	1	12485	697	25	2		2	PRIC285	20	62195519	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	907167	62195519	830001	614	31688											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328415	62328417	+	In_Frame_Del	DEL	GAG	GAG	-													acgtcctctgcggggagcgtGaggaggaggcacgggcttgc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	ENST00000369996.1	+	1	395_397	c.295_297delGAG	c.(295-297)gagdel	p.E101del	RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	101					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.67																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(295-297)del		tumor necrosis factor receptor superfamily, member 6b, decoy																																				SO:0001651	inframe_deletion	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328415_62328417delGAG	AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.295_297delGAG	20.37:g.62328421_62328423delGAG	ENSP00000359013:p.Glu101del					RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del	p.E101del	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		1	395_397	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		101						In_Frame_Del	DEL	ENST00000369996.1	37	c.295_297delGAG	CCDS13532.1																																																																																				0.67	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			9	35						9	35	---	---	---	---	-	62328417	GAG	-	62328415	7	5	311	1	0	1	0	1	0	0	0	0	16295	1291	45	0	297	0	TNFRSF6B	20	62328415	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08	132896	62328415	697105	615	31689											
C20orf135	140701	broad.mit.edu	37	chr20	62493215	62493215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggcccactcgctgggcCgctggctcgtgtaccccggc	14	18	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62493215C>T	ENST00000369916.3	+	1	650	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	C20ORF135_ENST00000601296.1_Silent_p.A1A	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	108							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CTCGCTGGGCCGCTGGCTCGT	0.741																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(322-324)Cgc>Tgc		abhydrolase domain containing 16B							3	4	4					20																	62493215		1577	3253	4830	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493215C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.322C>T	20.37:g.62493215C>T	ENSP00000358932:p.Arg108Cys					C20ORF135_ENST00000601296.1_Silent_p.A1A	p.R108C	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	650	+			108						Missense_Mutation	SNP	ENST00000369916.3	37	c.322C>T	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080288	0.55753	.	.	ENSG00000183260	ENST00000369916	T	0.51325	0.71	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.57932	0.2087	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	P	0.50754	0.649	T	0.64508	-0.6391	10	0.52906	T	0.07	-10.0517	14.578	0.68265	0.0:1.0:0.0:0.0	.	108	Q9H3Z7	ABHGB_HUMAN	C	108	ENSP00000358932:R108C	ENSP00000358932:R108C	R	+	1	0	ABHD16B	61963659	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	2.764000	0.47613	2.023000	0.59567	0.591000	0.81541	CGC		0.741	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			12	10	0	0	0	1	0	12	10					T	62493215	C	T	62493215	3	4	311	1	0	0	0	0	1	0	0	0	2088	652	23	1	324	1	C20orf135	20	62493215	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	164800	62493215	532305	616	31690											
SON	6651	broad.mit.edu	37	chr21	34923567	34923567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtccctggaggtgccctCgacgacagcgctggaatcct	13	14	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	ENST00000356577.4	+	3	2505	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000300278.4_Missense_Mutation_p.S677L|SON_ENST00000290239.6_Missense_Mutation_p.S677L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	677					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCCTCGACGACAGCG	0.557																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2029-2031)tCg>tTg		SON DNA binding protein							78	77	78					21																	34923567		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923567C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2030C>T	21.37:g.34923567C>T	ENSP00000348984:p.Ser677Leu					SON_ENST00000300278.4_Missense_Mutation_p.S677L|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S677L	p.S677L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2505	+			677					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2030C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455345	0.63401	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.29655	2.41;1.56;2.39;1.56	5.83	5.83	0.93111	.	0.000000	0.49305	D	0.000158	T	0.48804	0.1520	L	0.54323	1.7	0.33750	D	0.620485	D;D;D	0.76494	0.999;0.998;0.993	P;P;P	0.61940	0.848;0.896;0.892	T	0.60500	-0.7251	10	0.72032	D	0.01	.	15.6239	0.76833	0.0:1.0:0.0:0.0	.	677;677;677	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	L	677	ENSP00000348984:S677L;ENSP00000290239:S677L;ENSP00000300278:S677L;ENSP00000371095:S677L	ENSP00000290239:S677L	S	+	2	0	SON	33845437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	2.764000	0.94973	0.557000	0.71058	TCG		0.557	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		27	97	0	0	0	1	0	27	97					T	34923567	C	T	34923567	3	4	311	1	0	0	0	0	1	0	0	0	14926	893	31	1	2040	1	SON	21	34923567	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		34923567	13206328	617	31691											
PRDM15	63977	broad.mit.edu	37	chr21	43230535	43230535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcttgcgccgcatgtgtCggctcatggaggccctggtg	17	11	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	ENST00000269844.3	-	28	3835	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q	PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q|PRDM15_ENST00000422911.1_Missense_Mutation_p.R933Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1242					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						CCGCATGTGTCGGCTCATGGA	0.682																																						ENST00000422911.1																			0				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						c.(2797-2799)cGa>cAa		PR domain containing 15							57	45	49					21																	43230535		2202	4300	6502	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230535C>T	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.3725G>A	21.37:g.43230535C>T	ENSP00000269844:p.Arg1242Gln					PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q|PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.R1242Q	p.R933Q			P57071	PRD15_HUMAN			22	2899	-			1242					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2798G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158719	0.78226	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.09350	4.64;4.64;4.64;4.64;2.99	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.18676	0.0448	N	0.24115	0.695	0.49389	D	0.999787	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.10870	-1.0611	9	0.21540	T	0.41	-12.6908	15.3339	0.74234	0.0:1.0:0.0:0.0	.	1242;933;913	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	933;913;896;876;1242	ENSP00000408592:R933Q;ENSP00000381556:R913Q;ENSP00000444044:R896Q;ENSP00000390245:R876Q;ENSP00000269844:R1242Q	ENSP00000269844:R1242Q	R	-	2	0	PRDM15	42103604	1.000000	0.71417	0.995000	0.50966	0.413000	0.31143	7.499000	0.81566	1.836000	0.53414	0.306000	0.20318	CGA		0.682	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		29	27	0	0	0	1	0	29	27					T	43230535	C	T	43230535	3	4	311	1	0	0	0	0	1	0	0	0	12456	884	31	1	814	1	PRDM15	21	43230535	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8306968	43230535	4899360	618	31692											
ICOSLG	23308	broad.mit.edu	37	chr21	45651221	45651221	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcctatggccaccgccacGaccacaagcaggcacaggac	10	17	0	0	rs373630907		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	ENST00000407780.3	-	5	931	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V|ICOSLG_ENST00000400379.3_Silent_p.V268V	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	268					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17071	0.0		0.0	False		,,,				2504	0.0					ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(802-804)gtC>gtT		inducible T-cell co-stimulator ligand		G		0,4322		0,0,2161	86	96	92		804	-1.9	0	21		92	2,8500		0,2,4249	no	coding-synonymous	ICOSLG	NM_015259.4		0,2,6410	AA,AG,GG		0.0235,0.0,0.0156		268/303	45651221	2,12822	2161	4251	6412	SO:0001819	synonymous_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45651221G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.804C>T	21.37:g.45651221G>A						ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V|ICOSLG_ENST00000400379.3_Silent_p.V268V	p.V268V			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	5	931	-			268					A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	37	c.804C>T	CCDS42952.1																																																																																				0.567	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		52	72	0	0	0	1	0	52	72					A	45651221	G	A	45651221	2	1	311	1	0	0	0	0	0	0	0	1	7487	1045	37	1		1	ICOSLG	21	45651221	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2420686	45651221	2478674	619	31693											
SLC19A1	6573	broad.mit.edu	37	chr21	46951531	46951531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaggccacccgcagggCgtgtcccagcttcccgcctg	11	20	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	ENST00000311124.4	-	3	873	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	241					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	ACCCGCAGGGCGTGTCCCAGC	0.716																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(721-723)Gcc>Acc		solute carrier family 19 (folate transporter), member 1							33	40	37					21																	46951531		2199	4298	6497	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951531C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.721G>A	21.37:g.46951531C>T	ENSP00000308895:p.Ala241Thr					SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T	p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	873	-			241					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.721G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	2.734	-0.263656	0.05754	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.85702	-2.02;-2.02;-2.02	3.65	-7.3	0.01446	Major facilitator superfamily domain, general substrate transporter (1);	1.404820	0.04566	N	0.392316	T	0.58708	0.2141	N	0.03608	-0.345	0.09310	N	1	B;B;D;B	0.54601	0.06;0.06;0.967;0.06	B;B;B;B	0.41135	0.017;0.017;0.348;0.009	T	0.63238	-0.6682	10	0.13470	T	0.59	-2.4863	2.5293	0.04699	0.1859:0.1006:0.1851:0.5284	.	201;263;241;241	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	241;241;201	ENSP00000308895:A241T;ENSP00000369347:A241T;ENSP00000441772:A201T	ENSP00000308895:A241T	A	-	1	0	SLC19A1	45775959	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.128000	0.10531	-2.170000	0.00776	0.306000	0.20318	GCC		0.716	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			69	60	0	0	0	1	0	69	60					T	46951531	C	T	46951531	3	4	311	1	0	0	0	0	1	0	0	0	14428	768	27	1	1070	1	SLC19A1	21	46951531	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1300310	46951531	1178364	620	31694											
SLC19A1	6573	broad.mit.edu	37	chr21	46951822	46951822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtagcgcgcgggccgcaCgagagagaagatgtaggagg	19	8	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	ENST00000311124.4	-	3	582	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M|SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	144					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCGGGCCGCACGAGAGAGAAG	0.667																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(430-432)Gtg>Atg		solute carrier family 19 (folate transporter), member 1							21	20	20					21																	46951822		2183	4287	6470	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951822C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.430G>A	21.37:g.46951822C>T	ENSP00000308895:p.Val144Met					SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M|SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M	p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	582	-			144					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.430G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394881	0.62066	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	H	0.94808	3.585	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;0.998;0.998	D	0.97814	1.0252	10	0.87932	D	0	-40.3821	17.1012	0.86651	0.0:1.0:0.0:0.0	.	104;166;144;144	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	M	144;144;104;144;144	ENSP00000308895:V144M;ENSP00000369347:V144M;ENSP00000441772:V104M;ENSP00000401850:V144M;ENSP00000411345:V144M	ENSP00000308895:V144M	V	-	1	0	SLC19A1	45776250	1.000000	0.71417	0.113000	0.21522	0.002000	0.02628	5.683000	0.68189	2.460000	0.83146	0.462000	0.41574	GTG		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			5	9	0	0	0	1	0	5	9					T	46951822	C	T	46951822	3	4	311	1	0	0	0	0	1	0	0	0	14428	536	19	1	1361	1	SLC19A1	21	46951822	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	291	46951822	1178073	621	31695											
COL6A1	1291	broad.mit.edu	37	chr21	47423450	47423450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacggaccccgcccacgaCgtgcgggtggcggtggtgca	18	13	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	ENST00000361866.3	+	35	2724	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	870	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCCCACGACGTGCGGGTGG	0.711																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2608-2610)gaC>gaT		collagen, type VI, alpha 1	Palifermin(DB00039)						19	22	21					21																	47423450		2186	4272	6458	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423450C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2610C>T	21.37:g.47423450C>T						COL6A1_ENST00000498614.1_3'UTR	p.D870D	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2724	+	all_hematologic(128;0.24)		870			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2610C>T	CCDS13727.1																																																																																				0.711	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		21	65	0	0	0	1	0	21	65					T	47423450	C	T	47423450	2	4	311	1	0	0	0	0	0	0	0	1	3699	535	19	1		1	COL6A1	21	47423450	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	471628	47423450	706445	622	31696											
DIP2A	23181	broad.mit.edu	37	chr21	47916995	47916995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctgtccttgtgcattcGtctgtggaaacctacacccc	8	14	2	0	rs181610004	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	ENST00000417564.2	+	4	399	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000318711.7_Silent_p.S126S|DIP2A_ENST00000435722.3_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	126					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)		TTGTGCATTCGTCTGTGGAAA	0.453													G|||	2	0.000399361	0.0	0.0	5008	,	,		15536	0.0		0.002	False		,,,				2504	0.0					ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(376-378)tcG>tcA		DIP2 disco-interacting protein 2 homolog A (Drosophila)		G	,,,,,,	0,3942		0,0,1971	141	131	134		186,378,378,378,378,378,378	-11	0	21		134	8,8288		0,8,4140	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	,,,,,,	0,8,6111	AA,AG,GG		0.0964,0.0,0.0654	,,,,,,	62/1111,126/799,126/1568,126/1572,126/890,126/842,126/813	47916995	8,12230	1971	4148	6119	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47916995G>A	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.378G>A	21.37:g.47916995G>A						DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000435722.3_Silent_p.S126S|DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000417564.2_Silent_p.S126S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S	p.S126S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		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)	4	561	+	Breast(49;0.0933)		126					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.378G>A	CCDS46655.1																																																																																				0.453	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		17	18	0	0	0	1	0	17	18					A	47916995	G	A	47916995	2	1	311	1	0	0	0	0	0	0	0	1	4527	1132	40	1		1	DIP2A	21	47916995	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	493545	47916995	212900	623	31697											
DIP2A	23181	broad.mit.edu	37	chr21	47954526	47954527	+	Frame_Shift_Ins	INS	-	-	G													agcaaagaaggcagtacggtINSgggggtcacagtgtcccacg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	ENST00000417564.2	+	13	1589_1590	c.1568_1569insG	c.(1567-1572)gtggggfs	p.VG523fs	Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.VG459fs|DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.VG480fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000318711.7_Frame_Shift_Ins_p.VG524fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.VG519fs			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	523					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)		GGCAGTACGGTGGGGGTCACAG	0.535																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1570-1572)gggfs		DIP2 disco-interacting protein 2 homolog A (Drosophila)																																				SO:0001589	frameshift_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47954526_47954527insG	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.1573dupG	21.37:g.47954531_47954531dupG	ENSP00000392066:p.Val523fs					DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.G480fs|DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.G459fs|DIP2A_ENST00000417564.2_Frame_Shift_Ins_p.G523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.G519fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.G523fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.G523fs	p.G524fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		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)	13	1754_1755	+	Breast(49;0.0933)		523					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Ins	INS	ENST00000417564.2	37	c.1571_1572insG	CCDS46655.1																																																																																				0.535	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		26	32						26	32	---	---	---	---	G	47954527	-	G	47954526	7	5	311	1	0	1	1	0	0	0	0	0	4527	1696	59	0	1618	0	DIP2A	21	47954526	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37531	47954526	175369	624	31698											
IL17RA	23765	broad.mit.edu	37	chr22	17589817	17589817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaggcagctccgcgccGccctggacaggttccgggac	16	16	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	ENST00000319363.6	+	13	1841	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	570					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1708-1710)Gcc>Acc		interleukin 17 receptor A							14	15	15					22																	17589817		2198	4294	6492	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589817G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"Interleukins and interleukin receptors", "CD molecules"	5985	protein-coding gene	gene with protein product		605461	"interleukin 17 receptor"	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1708G>A	22.37:g.17589817G>A	ENSP00000320936:p.Ala570Thr						p.A570T	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1841	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	570					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1708G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860089	0.71834	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.17528	2.27	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.49072	-0.8977	10	0.87932	D	0	-23.5703	18.8689	0.92305	0.0:0.0:1.0:0.0	.	518;570	D3YTB4;Q96F46	.;I17RA_HUMAN	T	518;570	ENSP00000320936:A570T	ENSP00000320936:A570T	A	+	1	0	IL17RA	15969817	1.000000	0.71417	0.157000	0.22605	0.016000	0.09150	9.400000	0.97290	2.530000	0.85305	0.561000	0.74099	GCC		0.677	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		7	32	0	0	0	1	0	7	32					A	17589817	G	A	17589817	3	1	311	1	0	0	0	0	1	0	0	0	7639	1087	38	1	1758	1	IL17RA	22	17589817	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		17589817	33714749	625	31699											
MICAL3	57553	broad.mit.edu	37	chr22	18387494	18387494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatggccagagatgcaagaCgttgttgcgggagaaggcat	16	6	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	ENST00000441493.2	-	3	728	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I|MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	126	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)		AGATGCAAGACGTTGTTGCGG	0.522																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(376-378)Gtc>Atc		microtubule associated monooxygenase, calponin and LIM domain containing 3							209	184	192					22																	18387494		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387494C>T	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.376G>A	22.37:g.18387494C>T	ENSP00000416015:p.Val126Ile					MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I|MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I	p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	728	-		all_epithelial(15;0.198)	126					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.376G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902219	0.92035	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.62	4.59	0.56863	.	0.054186	0.64402	D	0.000001	T	0.35595	0.0937	L	0.31294	0.92	0.54753	D	0.999987	D;B;P;D;D	0.89917	1.0;0.181;0.888;0.999;0.996	D;B;P;D;D	0.91635	0.999;0.143;0.881;0.999;0.992	T	0.15350	-1.0440	10	0.52906	T	0.07	.	16.5606	0.84565	0.0:0.8694:0.1306:0.0	.	126;126;126;126;126	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	I	126	ENSP00000416015:V126I;ENSP00000414846:V126I;ENSP00000383406:V126I;ENSP00000410315:V126I;ENSP00000391827:V126I;ENSP00000372574:V126I;ENSP00000207726:V126I	ENSP00000207726:V126I	V	-	1	0	XXbac-B461K10.4;MICAL3	16767494	1.000000	0.71417	0.957000	0.39632	0.790000	0.44656	7.818000	0.86416	1.339000	0.45563	-0.176000	0.13171	GTC		0.522	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			36	254	0	0	0	1	0	36	254					T	18387494	C	T	18387494	3	4	311	1	0	0	0	0	1	0	0	0	9571	536	19	1	6489	1	MICAL3	22	18387494	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	797677	18387494	32917072	626	31700											
ARVCF	421	broad.mit.edu	37	chr22	19960526	19960526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacactgtctgcagcacGtgtgacgccgccttcgcttc	9	17	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000344269.3_Silent_p.H761H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000401994.1_Silent_p.H761H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					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)					TCTGCAGCACGTGTGACGCCG	0.672																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2470-2472)caC>caT		armadillo repeat gene deleted in velocardiofacial syndrome							147	127	134					22																	19960526		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960526G>A		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.2472C>T	22.37:g.19960526G>A						ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000344269.3_Silent_p.H761H	p.H824H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			15	2763	-	Colorectal(54;0.0993)		824					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2472C>T	CCDS13771.1																																																																																				0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		49	164	0	0	0	1	0	49	164					A	19960526	G	A	19960526	2	1	311	1	0	0	0	0	0	0	0	1	1003	1136	40	1		1	ARVCF	22	19960526	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1573032	19960526	31344040	627	31701											
PI4KA	5297	broad.mit.edu	37	chr22	21082106	21082106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacggctcccgggtccaaccGaacgagacgggtcacttcgt	12	14	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	ENST00000572273.1	-	40	4785	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	PI4KA_ENST00000255882.6_Missense_Mutation_p.R1577W|AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1519	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)			GGGTCCAACCGAACGAGACGG	0.547																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(4729-4731)Cgg>Tgg		phosphatidylinositol 4-kinase, catalytic, alpha							133	103	113					22																	21082106		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21082106G>A	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.4555C>T	22.37:g.21082106G>A	ENSP00000458238:p.Arg1519Trp					PI4KA_ENST00000572273.1_Missense_Mutation_p.R1519W|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W	p.R1577W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		40	4815	-	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)	1519					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4729C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.734315	0.89482	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.57907	0.37	5.23	5.23	0.72850	Phosphoinositide 3-kinase, accessory (PIK) domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.73962	2.25	0.80722	D	1	D	0.61697	0.99	P	0.59761	0.863	T	0.70077	-0.4971	10	0.56958	D	0.05	-27.0598	13.9127	0.63878	0.0:0.0:0.848:0.152	.	1519	P42356	PI4KA_HUMAN	W	1519;329	ENSP00000402981:R329W	ENSP00000255882:R1519W	R	-	1	2	PI4KA	19412106	1.000000	0.71417	0.986000	0.45419	0.958000	0.62258	4.472000	0.60189	2.728000	0.93425	0.655000	0.94253	CGG		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		46	77	0	0	0	1	0	46	77					A	21082106	G	A	21082106	3	1	311	1	0	0	0	0	1	0	0	0	11873	1057	37	1	1643	1	PI4KA	22	21082106	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1121580	21082106	30222460	628	31702											
PPIL2	23759	broad.mit.edu	37	chr22	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccagcttcatcacgtttCgctcctgtgcctacctggac	7	17	2	0	rs201283292		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	ENST00000335025.8	+	16	1244	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000406385.1_Missense_Mutation_p.R385C|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(1153-1155)Cgc>Tgc		peptidylprolyl isomerase (cyclophilin)-like 2							280	194	223					22																	22048118		2203	4300	6503	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22048118C>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.1153C>T	22.37:g.22048118C>T	ENSP00000334553:p.Arg385Cys					PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R385C	p.R385C			Q13356	PPIL2_HUMAN			16	1213	+	Colorectal(54;0.105)		385			PPIase cyclophilin-type.			Missense_Mutation	SNP	ENST00000335025.8	37	c.1153C>T	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122551	0.77436	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792;ENST00000446951	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	4.65	4.65	0.58169	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.67725	0.953;0.623;0.953	T	0.51188	-0.8737	10	0.87932	D	0	.	14.9799	0.71303	0.0:1.0:0.0:0.0	.	364;385;385	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	C	385;385;385;385;385;364;165	ENSP00000390427:R385C;ENSP00000334553:R385C;ENSP00000381812:R385C;ENSP00000445312:R385C;ENSP00000384299:R385C;ENSP00000396228:R364C;ENSP00000405214:R165C	ENSP00000334553:R385C	R	+	1	0	PPIL2	20378118	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	6.473000	0.73572	2.602000	0.87976	0.555000	0.69702	CGC		0.602	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			116	152	0	0	0	1	0	116	152					T	22048118	C	T	22048118	3	4	311	1	0	0	0	0	1	0	0	0	12327	884	31	1	1215	1	PPIL2	22	22048118	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	966012	22048118	29256448	629	31703											
CABIN1	23523	broad.mit.edu	37	chr22	24479228	24479228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacctctgaagacacGcacccttacaaggaggagct	9	14	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	ENST00000398319.2	+	20	3181	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	932					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2794-2796)acG>acA		calcineurin binding protein 1							94	76	82					22																	24479228		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24479228G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2796G>A	22.37:g.24479228G>A						CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			20	3181	+			932					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2796G>A	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		40	50	0	0	0	1	0	40	50					A	24479228	G	A	24479228	2	1	311	1	0	0	0	0	0	0	0	1	2528	1074	38	1		1	CABIN1	22	24479228	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2431110	24479228	26825338	630	31704											
SUSD2	56241	broad.mit.edu	37	chr22	24581087	24581087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggcgctctggaccaacGaccacgcactggcctggcac	12	16	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	ENST00000358321.3	+	6	1069	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	270					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(808-810)Gac>Aac		sushi domain containing 2							34	34	34					22																	24581087		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581087G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.808G>A	22.37:g.24581087G>A	ENSP00000351075:p.Asp270Asn						p.D270N	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			6	1069	+			270					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.808G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519358	0.85495	.	.	ENSG00000099994	ENST00000358321	T	0.19806	2.12	4.1	4.1	0.47936	.	0.476289	0.22825	N	0.055176	T	0.14700	0.0355	L	0.40543	1.245	0.41929	D	0.990557	P	0.48640	0.913	B	0.36378	0.223	T	0.10706	-1.0618	10	0.14252	T	0.57	-12.7161	14.242	0.65963	0.0:0.0:1.0:0.0	.	270	Q9UGT4	SUSD2_HUMAN	N	270	ENSP00000351075:D270N	ENSP00000351075:D270N	D	+	1	0	SUSD2	22911087	0.999000	0.42202	0.767000	0.31495	0.841000	0.47740	7.210000	0.77924	1.991000	0.58162	0.437000	0.28790	GAC		0.672	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		28	52	0	0	0	1	0	28	52					A	24581087	G	A	24581087	3	1	311	1	0	0	0	0	1	0	0	0	15405	1058	37	1	830	1	SUSD2	22	24581087	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101859	24581087	26723479	631	31705											
ADRBK2	157	broad.mit.edu	37	chr22	26118335	26118335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctattgcgtcgtgcccCgaagttcctcaacaaacctc	9	15	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	ENST00000324198.6	+	21	2177	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	662					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)	CGTCGTGCCCCGAAGTTCCTC	0.542																																						ENST00000324198.5																			0				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						c.(1984-1986)cCg>cTg		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						103	96	98					22																	26118335		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26118335C>T	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.1985C>T	22.37:g.26118335C>T	ENSP00000317578:p.Pro662Leu						p.P662L	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			21	2177	+			662					Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1985C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704940	0.48412	.	.	ENSG00000100077	ENST00000324198	T	0.58210	0.35	5.4	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	N	0.08118	0	0.80722	D	1	D	0.61697	0.99	B	0.43445	0.42	T	0.41893	-0.9483	10	0.72032	D	0.01	-16.4738	13.1904	0.59706	0.0:0.9237:0.0:0.0763	.	662	P35626	ARBK2_HUMAN	L	662	ENSP00000317578:P662L	ENSP00000317578:P662L	P	+	2	0	ADRBK2	24448335	1.000000	0.71417	0.559000	0.28332	0.035000	0.12851	6.938000	0.75904	1.292000	0.44672	-0.142000	0.14014	CCG		0.542	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		40	135	0	0	0	1	0	40	135					T	26118335	C	T	26118335	3	4	311	1	0	0	0	0	1	0	0	0	344	652	23	1	2067	1	ADRBK2	22	26118335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1537248	26118335	25186231	632	31706											
MYO18B	84700	broad.mit.edu	37	chr22	26164580	26164580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaactgtggcactgaaaAaaggcgaggagggtcaaagc	15	6	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	ENST00000407587.2	+	4	866	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E|MYO18B_ENST00000335473.7_Missense_Mutation_p.K233E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	233						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(697-699)Aaa>Gaa		myosin XVIIIB							31	35	34					22																	26164580		1882	4094	5976	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164580A>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.697A>G	22.37:g.26164580A>G	ENSP00000386096:p.Lys233Glu					MYO18B_ENST00000407587.2_Missense_Mutation_p.K233E|MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E	p.K233E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	947	+			233					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.697A>G		.	.	.	.	.	.	.	.	.	.	a	16.24	3.067667	0.55539	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.91180	-2.77;-2.77;-2.8	4.73	1.33	0.21861	.	0.000000	0.33813	U	0.004531	T	0.79868	0.4520	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15141	0.007;0.012;0.012	B;B;B	0.13407	0.004;0.009;0.009	T	0.66642	-0.5872	10	0.45353	T	0.12	.	5.1235	0.14873	0.5491:0.2864:0.1645:0.0	.	233;233;233	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	E	233	ENSP00000441229:K233E;ENSP00000334563:K233E;ENSP00000386096:K233E	ENSP00000334563:K233E	K	+	1	0	MYO18B	24494580	0.155000	0.22806	0.000000	0.03702	0.185000	0.23345	1.842000	0.39250	-0.082000	0.12640	0.248000	0.18094	AAA		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	16	0	0	0	1	0	4	16					G	26164580	A	G	26164580	3	3	311	1	0	0	0	0	1	0	0	0	10066	15	1	3	707	3	MYO18B	22	26164580	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	46245	26164580	25139986	633	31707											
INPP5J	27124	broad.mit.edu	37	chr22	31522443	31522443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacctgggcggtggtgaCgacagcgacggcgcagacat	15	13	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	ENST00000331075.5	+	3	1402	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_ENST00000405300.1_Silent_p.D84D|INPP5J_ENST00000412277.2_Silent_p.D384D|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Silent_p.D84D	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	451	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|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)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	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)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1351-1353)gaC>gaT		inositol polyphosphate-5-phosphatase J							132	140	137					22																	31522443		2169	4251	6420	SO:0001819	synonymous_variant	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522443C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1353C>T	22.37:g.31522443C>T						INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000412277.2_Silent_p.D384D|INPP5J_ENST00000400294.2_Silent_p.D84D|INPP5J_ENST00000405300.1_Silent_p.D84D	p.D451D			Q15735	PI5PA_HUMAN			3	1402	+			451			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37	c.1353C>T																																																																																					0.657	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		109	191	0	0	0	1	0	109	191					T	31522443	C	T	31522443	2	4	311	1	0	0	0	0	0	0	0	1	7759	535	19	1		1	INPP5J	22	31522443	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5357863	31522443	19782123	634	31708											
SFI1	9814	broad.mit.edu	37	chr22	31976293	31976293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctaaaagacaatgtgacCcacgctcatctccagcaaat	6	14	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31976293C>A	ENST00000400288.2	+	12	1296	c.1191C>A	c.(1189-1191)acC>acA	p.T397T	SFI1_ENST00000443326.1_Silent_p.T315T|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443011.1_Silent_p.T244T|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000414585.1_Silent_p.T244T	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	397					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACAATGTGACCCACGCTCATC	0.453																																						ENST00000443326.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(943-945)acC>acA		Sfi1 homolog, spindle assembly associated (yeast)							104	101	102					22																	31976293		2058	4211	6269	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31976293C>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1191C>A	22.37:g.31976293C>A						SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Silent_p.T244T|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400288.2_Silent_p.T397T|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000443011.1_Silent_p.T244T	p.T315T	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN			10	1338	+			397					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.945C>A	CCDS43004.1																																																																																				0.453	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		5	74	1	0	0.184627	1	0.184896	5	74					A	31976293	C	A	31976293	2	1	311	1	0	0	0	0	0	0	0	1	14156	610	22	4		4	SFI1	22	31976293	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	453850	31976293	19328273	635	31709											
SFI1	9814	broad.mit.edu	37	chr22	32000374	32000374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcgtgctgcacagggCgctgcaggcatgggtggtag	18	10	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	ENST00000400288.2	+	19	2066	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000540643.1_Missense_Mutation_p.A599V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000432498.1_Missense_Mutation_p.A623V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000414585.1_Missense_Mutation_p.A501V	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	654	Interaction with CETN2.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(1867-1869)gCg>gTg		Sfi1 homolog, spindle assembly associated (yeast)							12	16	15					22																	32000374		2091	4227	6318	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32000374C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1961C>T	22.37:g.32000374C>T	ENSP00000383145:p.Ala654Val		OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	SFI1_ENST00000414585.1_Missense_Mutation_p.A501V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000400288.2_Missense_Mutation_p.A654V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000540643.1_Missense_Mutation_p.A599V	p.A623V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			18	2261	+			654					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.1868C>T	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684555	0.29872	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.4	-0.804	0.10882	.	0.519621	0.18751	N	0.132180	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	P;B;D;P;B;P	0.89917	0.591;0.217;1.0;0.591;0.398;0.733	B;B;D;B;B;B	0.76071	0.049;0.032;0.987;0.061;0.04;0.23	T	0.10823	-1.0613	10	0.37606	T	0.19	.	4.7647	0.13127	0.0:0.4305:0.1564:0.4131	.	599;572;572;623;654;630	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	V	623;599;572;630;501;501;572;654	ENSP00000402679:A623V;ENSP00000443025:A599V;ENSP00000416469:A572V;ENSP00000397148:A501V;ENSP00000401199:A501V;ENSP00000383146:A572V;ENSP00000383145:A654V	ENSP00000383145:A654V	A	+	2	0	SFI1	30330374	0.000000	0.05858	0.105000	0.21289	0.176000	0.22953	-0.215000	0.09279	0.216000	0.20781	-0.251000	0.11542	GCG		0.602	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		3	7	0	0	0	1	0	3	7					T	32000374	C	T	32000374	3	4	311	1	0	0	0	0	1	0	0	0	14156	768	27	1	2031	1	SFI1	22	32000374	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24081	32000374	19304192	636	31710											
YWHAH	7533	broad.mit.edu	37	chr22	32352168	32352170	+	In_Frame_Del	DEL	CTC	CTC	-													tctccaatgaagatcgaaatCtcctctctgtggcctacaag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	ENST00000248975.5	+	2	403_405	c.130_132delCTC	c.(130-132)ctcdel	p.L45del	snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	45					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438																																					Ovarian(98;460 2060 9263 44007)	ENST00000248975.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(130-132)del		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide																																				SO:0001651	inframe_deletion	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352168_32352170delCTC	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.130_132delCTC	22.37:g.32352171_32352173delCTC	ENSP00000248975:p.Leu45del					YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	p.L45del	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN			2	403_405	+			45						In_Frame_Del	DEL	ENST00000248975.5	37	c.130_132delCTC	CCDS13901.1																																																																																				0.438	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		18	118						18	118	---	---	---	---	-	32352170	CTC	-	32352168	7	5	311	1	0	1	0	1	0	0	0	0	17501	913	32	0	136	0	YWHAH	22	32352168	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	351794	32352168	18952398	637	31711											
APOL5	80831	broad.mit.edu	37	chr22	36122590	36122590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctgggtttggccctaGcacctgtgacagcaggaggc	13	12	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:36122590G>A	ENST00000249044.2	+	3	475	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	159					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTGGCCCTAGCACCTGTGAC	0.547																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(475-477)Gca>Aca		apolipoprotein L, 5							66	67	67					22																	36122590		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122590G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.475G>A	22.37:g.36122590G>A	ENSP00000249044:p.Ala159Thr						p.A159T	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	475	+			159					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.475G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974547	0.53720	.	.	ENSG00000128313	ENST00000249044	T	0.10005	2.92	3.91	2.88	0.33553	.	0.797068	0.10859	U	0.626299	T	0.12603	0.0306	L	0.56769	1.78	0.09310	N	1	P	0.36909	0.573	B	0.37480	0.251	T	0.21861	-1.0233	10	0.62326	D	0.03	.	6.237	0.20768	0.2391:0.0:0.7609:0.0	.	159	Q9BWW9	APOL5_HUMAN	T	159	ENSP00000249044:A159T	ENSP00000249044:A159T	A	+	1	0	APOL5	34452536	0.005000	0.15991	0.002000	0.10522	0.122000	0.20287	0.827000	0.27421	0.632000	0.30432	0.655000	0.94253	GCA		0.547	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		7	177	0	0	0	1	0	7	177					A	36122590	G	A	36122590	3	1	311	1	0	0	0	0	1	0	0	0	809	971	34	2	485	2	APOL5	22	36122590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3770422	36122590	15181976	638	31712											
CSF2RB	1439	broad.mit.edu	37	chr22	37333546	37333546	+	Frame_Shift_Del	DEL	C	C	-													cagatctacccacagagcagCcccccagcccccagccaggc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	ENST00000403662.3	+	14	1918	c.1696delC	c.(1696-1698)cccfs	p.P567fs	CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs|CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000262825.5_Frame_Shift_Del_p.P573fs			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	567					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1714-1716)ccfs		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						29	31	30					22																	37333546		2203	4300	6503	SO:0001589	frameshift_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333546delC	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1696delC	22.37:g.37333546delC	ENSP00000384053:p.Pro567fs					CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000403662.3_Frame_Shift_Del_p.P567fs|CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs	p.P573fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	1931	+			567					Q5JZI1|Q6ICE0	Frame_Shift_Del	DEL	ENST00000403662.3	37	c.1714delC	CCDS13936.1																																																																																				0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		7	52						7	52	---	---	---	---	-	37333546	C	-	37333546	7	5	311	1	0	1	0	1	0	0	0	0	3935	739	26	0	1746	0	CSF2RB	22	37333546	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1210956	37333546	13971020	639	31713											
ELFN2	114794	broad.mit.edu	37	chr22	37770333	37770333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggcagtagtacacGgctcccagcacgataaccat	10	13	0	0	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	ENST00000402918.2	-	3	2027	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	414					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTAGTACACGGCTCCCAGCA	0.607																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1240-1242)gcC>gcT		extracellular leucine-rich repeat and fibronectin type III domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	115	106	109		1242	-6.4	0.3	22	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	ELFN2	NM_052906.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		414/821	37770333	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770333G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1242C>T	22.37:g.37770333G>A						ELFN2_ENST00000349653.3_Silent_p.A414A|RP1-63G5.5_ENST00000430883.1_RNA	p.A414A	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2027	-	Melanoma(58;0.0574)		414					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1242C>T	CCDS33642.1																																																																																				0.607	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		56	115	0	0	0	1	0	56	115					A	37770333	G	A	37770333	2	1	311	1	0	0	0	0	0	0	0	1	5058	1103	39	1		1	ELFN2	22	37770333	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	436787	37770333	13534233	640	31714											
MFNG	4242	broad.mit.edu	37	chr22	37882079	37882079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagcttagggggccccGggttcggctggctcagctcg	17	12	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	ENST00000356998.3	-	1	360	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	46					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(136-138)cCg>cTg		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							38	42	40					22																	37882079		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882079G>A	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.137C>T	22.37:g.37882079G>A	ENSP00000349490:p.Pro46Leu					MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			1	360	-	Melanoma(58;0.0574)		46					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.137C>T	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687315	0.29962	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000424765	T;T	0.55234	0.57;0.53	4.31	-2.5	0.06384	.	1.815870	0.02599	N	0.100870	T	0.38161	0.1030	L	0.38953	1.18	0.18873	N	0.999989	B;B	0.17268	0.004;0.021	B;B	0.09377	0.001;0.004	T	0.07121	-1.0789	10	0.24483	T	0.36	-2.4335	3.8522	0.08960	0.1503:0.3543:0.3836:0.1119	.	46;46	B4DLT6;O00587	.;MFNG_HUMAN	L	46	ENSP00000413855:P46L;ENSP00000349490:P46L	ENSP00000349490:P46L	P	-	2	0	MFNG	36212025	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	0.412000	0.21131	-0.263000	0.09378	-1.957000	0.00481	CCG		0.632	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		22	111	0	0	0	1	0	22	111					A	37882079	G	A	37882079	3	1	311	1	0	0	0	0	1	0	0	0	9525	1116	39	1	867	1	MFNG	22	37882079	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	111746	37882079	13422487	641	31715											
SH3BP1	23616	broad.mit.edu	37	chr22	38051660	38051660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctatcccccctcagccccGccccaggagccttgcctcag	8	21	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	ENST00000357436.4	+	18	2388	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	692					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)					CCTCAGCCCCGCCCCAGGAGC	0.677																																						ENST00000357436.4																			0				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						c.(2074-2076)cGc>cAc		SH3-domain binding protein 1							5	6	6					22																	38051660		2063	3969	6032	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38051660G>A		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.2075G>A	22.37:g.38051660G>A	ENSP00000350018:p.Arg692His					Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	p.R692H	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN			18	2388	+	Melanoma(58;0.0574)		692					Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.2075G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373268	0.24857	.	.	ENSG00000100092	ENST00000357436	T	0.18502	2.21	3.97	2.95	0.34219	.	0.247760	0.20496	U	0.091194	T	0.09291	0.0229	L	0.27053	0.805	0.80722	D	1	B	0.17852	0.024	B	0.09377	0.004	T	0.19418	-1.0306	9	.	.	.	.	3.8232	0.08843	0.2304:0.2046:0.565:0.0	.	692	Q9Y3L3	3BP1_HUMAN	H	692	ENSP00000350018:R692H	.	R	+	2	0	SH3BP1	36381606	1.000000	0.71417	0.973000	0.42090	0.363000	0.29612	2.420000	0.44679	0.878000	0.35920	-0.391000	0.06502	CGC		0.677	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		8	7	0	0	0	1	0	8	7					A	38051660	G	A	38051660	3	1	311	1	0	0	0	0	1	0	0	0	14244	1087	38	1	2145	1	SH3BP1	22	38051660	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	169581	38051660	13252906	642	31716											
CACNA1I	8911	broad.mit.edu	37	chr22	40043868	40043868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgaagggagacatctcGgaagccggcattgccagact	14	9	1	4	rs576135220	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	ENST00000402142.3	+	9	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G502R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	502					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)	gaGACATCTCGGAAGCCGGCA	0.562													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0					ENST00000336649.4																			0				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						c.(1504-1506)Gga>Aga		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						64	68	66					22																	40043868		1924	4111	6035	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40043868G>A	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.1504G>A	22.37:g.40043868G>A	ENSP00000385019:p.Gly502Arg					CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G502R|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R	p.G502R			Q9P0X4	CAC1I_HUMAN			11	1504	+	Melanoma(58;0.0749)		502					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1504G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.207706	0.01568	.	.	ENSG00000100346	ENST00000402142;ENST00000401624;ENST00000336649	D;D;D	0.96651	-4.04;-4.02;-4.08	2.46	-4.92	0.03075	.	87.374900	0.00166	U	0.000003	D	0.87577	0.6212	N	0.04132	-0.27	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.79732	-0.1680	10	0.48119	T	0.1	.	1.2994	0.02076	0.2648:0.1786:0.3809:0.1757	.	502;502	Q9P0X4-2;Q9P0X4	.;CAC1I_HUMAN	R	502	ENSP00000385019:G502R;ENSP00000383887:G502R;ENSP00000337829:G502R	ENSP00000337829:G502R	G	+	1	0	CACNA1I	38373814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.092000	0.11129	-1.466000	0.01897	-2.010000	0.00438	GGA		0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		29	66	0	0	0	1	0	29	66					A	40043868	G	A	40043868	3	1	311	1	0	0	0	0	1	0	0	0	2546	1117	39	1	1538	1	CACNA1I	22	40043868	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1992208	40043868	11260698	643	31717											
TNRC6B	23112	broad.mit.edu	37	chr22	40662440	40662440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggggtggggaggtggaCgccagcccaatcaaggatgg	18	8	2	0	rs570227678	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	ENST00000454349.2	+	5	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R736C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	736	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						GGGAGGTGGACGCCAGCCCAA	0.502													C|||	10	0.00199681	0.0	0.0	5008	,	,		19095	0.0		0.0	False		,,,				2504	0.0102					ENST00000454349.2																			0				breast(1)	1						c.(2206-2208)Cgc>Tgc		trinucleotide repeat containing 6B							34	35	35					22																	40662440		1907	4123	6030	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662440C>T	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.2206C>T	22.37:g.40662440C>T	ENSP00000401946:p.Arg736Cys					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R736C|TNRC6B_ENST00000402203.1_Intron	p.R736C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2417	+			736					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2206C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109066	0.37242	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.12569	2.67;2.68	4.94	4.94	0.65067	.	0.190783	0.47093	D	0.000247	T	0.25005	0.0607	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.988;0.952;0.968	T	0.06232	-1.0838	10	0.59425	D	0.04	-4.4187	18.3377	0.90294	0.0:1.0:0.0:0.0	.	736;736;736	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	736	ENSP00000401946:R736C;ENSP00000338371:R736C	ENSP00000338371:R736C	R	+	1	0	TNRC6B	38992386	1.000000	0.71417	0.996000	0.52242	0.807000	0.45602	2.423000	0.44705	2.575000	0.86900	0.561000	0.74099	CGC		0.502	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	21	0	0	0	1	0	9	21					T	40662440	C	T	40662440	3	4	311	1	0	0	0	0	1	0	0	0	16338	536	19	1	2345	1	TNRC6B	22	40662440	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	618572	40662440	10642126	644	31718											
SGSM3	57591	broad.mit.edu	37	chr22	40803287	40803287	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggaagccatcctgcgCgtggcacgccacttccagtg	12	16	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Silent_p.R441R|SGSM3_ENST00000454798.2_Silent_p.R374R	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCATCCTGCGCGTGGCACGCC	0.617			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1321-1323)cgC>cgT		small G protein signaling modulator 3							52	53	53					22																	40803287		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803287C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803287C>T						SGSM3_ENST00000454798.2_Silent_p.R374R	p.R441R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			12	1512	+			441					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1323C>T	CCDS14003.1																																																																																				0.617	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		43	85	0	0	0	1	0	43	85					T	40803287	C	T	40803287	1	4	311	0	1	0	0	0	0	0	0	0	14224	755	27	1		1	SGSM3	22	40803287	IGR	SNP	C	TCGA-HT-8564-01A-11D-2395-08	140847	40803287	10501279	645	31719											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620136	41620136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacagtaatcgggggtcGcctacggctcctctacgagg	14	12	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	ENST00000216237.5	+	9	1213	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	352					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						ATCGGGGGTCGCCTACGGCTC	0.607																																						ENST00000216237.5																			0				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						c.(1054-1056)cGc>cAc		l(3)mbt-like 2 (Drosophila)							83	70	75					22																	41620136		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620136G>A	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.1055G>A	22.37:g.41620136G>A	ENSP00000216237:p.Arg352His						p.R352H	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1213	+			352					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1055G>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648235	0.96714	.	.	ENSG00000100395	ENST00000216237	T	0.35789	1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78949	-0.2002	10	0.87932	D	0	.	18.8704	0.92311	0.0:0.0:1.0:0.0	.	352;352	Q969R5-3;Q969R5	.;LMBL2_HUMAN	H	352	ENSP00000216237:R352H	ENSP00000216237:R352H	R	+	2	0	L3MBTL2	39950082	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.843000	0.99491	2.481000	0.83766	0.655000	0.94253	CGC		0.607	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		45	88	0	0	0	1	0	45	88					A	41620136	G	A	41620136	3	1	311	1	0	0	0	0	1	0	0	0	8592	1087	38	1	1089	1	L3MBTL2	22	41620136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816849	41620136	9684430	646	31720											
FBLN1	2192	broad.mit.edu	37	chr22	45914668	45914668	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaatccaaagaatgcagGtacgtttgccagtggccact	11	10	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	ENST00000327858.6	+	2	280		c.e2+1		FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000348697.2_Splice_Site	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.e2+1		fibulin 1							69	56	60					22																	45914668		2201	4300	6501	SO:0001630	splice_region_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45914668G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.185+1G>A	22.37:g.45914668G>A						FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site				P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	332	+		Ovarian(80;0.00965)|all_neural(38;0.0416)						B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Splice_Site	SNP	ENST00000327858.6	37		CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292072	0.59976	.	.	ENSG00000077942	ENST00000411478;ENST00000445110;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000439835;ENST00000454279;ENST00000451475	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.529	0.67912	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN1	44293332	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	4.351000	0.59398	2.414000	0.81942	0.655000	0.94253	.		0.567	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Intron	14	14	0	0	0	1	0	14	14					A	45914668	G	A	45914668	5	1	311	1	0	0	0	0	0	0	1	0	5698	1275	44	2	192	2	FBLN1	22	45914668	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4294532	45914668	5389898	647	31721											
CELSR1	9620	broad.mit.edu	37	chr22	46776725	46776725	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcagacaggcttggttcGctcctccacctccagcaggg	11	16	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	ENST00000262738.3	-	22	7215	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2406					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)		GGCTTGGTTCGCTCCTCCACC	0.667																																						ENST00000262738.3																			0				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						c.(7216-7218)Cga>Tga		cadherin, EGF LAG seven-pass G-type receptor 1							51	51	51					22																	46776725		2203	4300	6503	SO:0001587	stop_gained	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46776725G>A	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.7216C>T	22.37:g.46776725G>A	ENSP00000262738:p.Arg2406*						p.R2406*	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	22	7215	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2406					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Nonsense_Mutation	SNP	ENST00000262738.3	37	c.7216C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	47	13.716005	0.99759	.	.	ENSG00000075275	ENST00000262738	.	.	.	4.44	2.05	0.26809	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9457	0.47299	0.0:0.0:0.5895:0.4105	.	.	.	.	X	2406	.	ENSP00000262738:R2406X	R	-	1	2	CELSR1	45155389	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.979000	0.40608	2.043000	0.60533	0.491000	0.48974	CGA		0.667	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		23	102	0	0	0	1	0	23	102					A	46776725	G	A	46776725	4	1	311	1	0	0	0	0	0	1	0	0	3221	1095	38	1	1884	1	CELSR1	22	46776725	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	862057	46776725	4527841	648	31722											
CELSR1	9620	broad.mit.edu	37	chr22	46806347	46806347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtccacatttttgccGtcgactgacaggttccgcat	9	13	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CATTTTTGCCGTCGACTGACA	0.632																																						ENST00000262738.3																			0				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						c.(4879-4881)gaC>gaT		cadherin, EGF LAG seven-pass G-type receptor 1							127	110	116					22																	46806347		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46806347G>A	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.4881C>T	22.37:g.46806347G>A							p.D1627D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4880	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1627			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4881C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		76	132	0	0	0	1	0	76	132					A	46806347	G	A	46806347	2	1	311	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46806347	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29622	46806347	4498219	649	31723											
SAPS2	9701	broad.mit.edu	37	chr22	50882544	50882544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggacagtgacaaaggaCgggtgagcaggttgagtgtg	19	5	0	3	rs201661469		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50882544C>T	ENST00000216061.5	+	24	3220	c.2850C>T	c.(2848-2850)gaC>gaT	p.D950D	PPP6R2_ENST00000359139.3_Silent_p.D917D|PPP6R2_ENST00000395744.3_Silent_p.D916D|PPP6R2_ENST00000395741.3_Silent_p.D917D			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	950						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						TGACAAAGGACGGGTGAGCAG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12649	0.0		0.0	False		,,,				2504	0.0					ENST00000359139.3																			0				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						c.(2749-2751)gaC>gaT		protein phosphatase 6, regulatory subunit 2		C	,,,	1,4405	2.1+/-5.4	0,1,2202	53	60	57		2829,2751,2751,2748	1.5	1	22		57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP6R2	NM_001242898.1,NM_001242899.1,NM_001242900.1,NM_014678.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	943/960,917/934,917/928,916/933	50882544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50882544C>T	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.2850C>T	22.37:g.50882544C>T						PPP6R2_ENST00000395741.3_Silent_p.D917D|PPP6R2_ENST00000395744.3_Silent_p.D916D|PPP6R2_ENST00000216061.5_Silent_p.D950D	p.D917D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			22	3145	+			950					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.2751C>T																																																																																					0.667	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		44	98	0	0	0	1	0	44	98					T	50882544	C	T	50882544	2	4	311	1	0	0	0	0	0	0	0	1	13837	535	19	1		1	SAPS2	22	50882544	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4076197	50882544	422022	650	31724											
TYMP	1890	broad.mit.edu	37	chr22	50967656	50967656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtccacaagctgctggCgccaggcctctggccactcc	11	17	1	0	rs370874256		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	ENST00000252029.3	-	3	488	c.326G>A	c.(325-327)cGc>cAc	p.R109H	TYMP_ENST00000395681.1_Missense_Mutation_p.R109H|TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|SCO2_ENST00000543927.1_5'Flank	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	109					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	AAGCTGCTGGCGCCAGGCCTC	0.642																																						ENST00000252029.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(325-327)cGc>cAc		thymidine phosphorylase	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						41	40	40					22																	50967656		2203	4298	6501	SO:0001583	missense	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967656C>T	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.326G>A	22.37:g.50967656C>T	ENSP00000252029:p.Arg109His					TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|TYMP_ENST00000395681.1_Missense_Mutation_p.R109H	p.R109H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	3	488	-		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)	109					A8MW15|H9KVA0|Q13390|Q8WVB7	Missense_Mutation	SNP	ENST00000252029.3	37	c.326G>A	CCDS14096.1	.	.	.	.	.	.	.	.	.	.	C	7.750	0.703093	0.15172	.	.	ENSG00000025708	ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169	D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.52	4.84	-5.61	0.02489	Glycosyl transferase, family 3 (2);	1.194250	0.06097	N	0.664724	D	0.92899	0.7741	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	D	0.85190	0.1009	10	0.36615	T	0.2	-10.3313	11.0444	0.47850	0.0:0.6654:0.1369:0.1978	.	109;109;109;109	B4DVR2;B2RBL3;E5KRG5;P19971	.;.;.;TYPH_HUMAN	H	109	ENSP00000379037:R109H;ENSP00000379038:R109H;ENSP00000252029:R109H;ENSP00000379036:R109H;ENSP00000395875:R109H	ENSP00000252029:R109H	R	-	2	0	TYMP	49314522	0.000000	0.05858	0.026000	0.17262	0.174000	0.22865	-1.175000	0.03102	-0.725000	0.04901	-1.267000	0.01435	CGC		0.642	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953		38	87	0	0	0	1	0	38	87					T	50967656	C	T	50967656	3	4	311	1	0	0	0	0	1	0	0	0	16808	768	27	1	1154	1	TYMP	22	50967656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	85112	50967656	336910	651	31725											
ASMTL	8623	broad.mit.edu	37	chrX	1536976	1536976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcatacgagggtactcaCgggccagctctcgggccagt	13	14	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	ENST00000381317.3	-	11	1444	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H|ASMTL_ENST00000534940.1_Missense_Mutation_p.R413H|ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	471	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				AGGGTACTCACGGGCCAGCTC	0.612													c|||	8	0.00159744	0.0	0.0	5008	,	,		18428	0.0069		0.0	False		,,,				2504	0.001					ENST00000534940.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(1237-1239)cGt>cAt		acetylserotonin O-methyltransferase-like			HIS/ARG,HIS/ARG,HIS/ARG	0,4216		0,0,2108	109	131	124		1238,1364,1412	1.4	0.1	X		124	1,8419		0,1,4209	yes	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	29,29,29	0,1,6317	TT,TC,CC		0.0119,0.0,0.0079	benign,benign,benign	413/564,455/606,471/622	1536976	1,12635	2108	4210	6318	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1536976C>T	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1412G>A	X.37:g.1536976C>T	ENSP00000370718:p.Arg471His					ASMTL_ENST00000381317.3_Missense_Mutation_p.R471H|ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H|ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H	p.R413H	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			11	1463	-		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)	471			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.1238G>A	CCDS43917.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	8.763	0.924139	0.18056	0.0	1.19E-4	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	1.43	1.43	0.22495	O-methyltransferase, family 2 (1);	0.420513	0.23142	N	0.051447	T	0.09291	0.0229	N	0.19112	0.55	0.20196	N	0.999923	B;B;B	0.24426	0.022;0.084;0.103	B;B;B	0.12837	0.008;0.007;0.007	T	0.17258	-1.0375	10	0.41790	T	0.15	.	5.6479	0.17600	0.0:0.1623:0.0:0.8377	.	395;455;471	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	H	395;413;455;471	ENSP00000410578:R395H;ENSP00000446410:R413H;ENSP00000370734:R455H;ENSP00000370718:R471H	ENSP00000370718:R471H	R	-	2	0	ASMTL	1496976	0.541000	0.26417	0.143000	0.22291	0.000000	0.00434	0.901000	0.28445	-0.439000	0.07222	-0.000000	0.15137	CGT		0.612	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		15	45	0	0	0	1	0	15	45					T	1536976	C	T	1536976	3	4	311	1	0	0	0	0	1	0	0	0	1046	536	19	1	465	1	ASMTL	23	1536976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1536976	153733584	652	31726											
SHROOM2	357	broad.mit.edu	37	chrX	9900853	9900853	+	Frame_Shift_Del	DEL	C	C	-													ctccccctcgccccagttcgCcccccagaaactgacggaca							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	ENST00000380913.3	+	6	3620	c.3530delC	c.(3529-3531)gccfs	p.A1177fs	SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1177					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)				CCCCAGTTCGCCCCCCAGAAA	0.627																																						ENST00000380913.3																			0				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						c.(3529-3531)gcfs		shroom family member 2							39	37	38					X																	9900853		2201	4299	6500	SO:0001589	frameshift_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900853delC	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.3530delC	X.37:g.9900853delC	ENSP00000370299:p.Ala1177fs					SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs|SHROOM2_ENST00000493668.1_3'UTR	p.A1177fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3620	+		Hepatocellular(5;0.000888)	1177					B9EIQ7	Frame_Shift_Del	DEL	ENST00000380913.3	37	c.3530delC	CCDS14135.1																																																																																				0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		23	43						23	43	---	---	---	---	-	9900853	C	-	9900853	7	5	311	1	0	1	0	1	0	0	0	0	14294	739	26	0	3552	0	SHROOM2	23	9900853	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8363877	9900853	145369707	653	31727											
FANCB	2187	broad.mit.edu	37	chrX	14883271	14883271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctagtttaaaactcaaaCgcatttcaaatttattagta	4	7	2	0	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	ENST00000324138.3	-	2	515	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_ENST00000398334.1_Missense_Mutation_p.R121H	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	121					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(361-363)cGt>cAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B		C	HIS/ARG,HIS/ARG	1,3834		0,1,0,1631,571	38	37	37		362,362	3.1	0	X	dbSNP_134	37	1,6726		0,0,1,2428,1870	no	missense,missense	FANCB	NM_001018113.1,NM_152633.2	29,29	0,1,1,4059,2441	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging,probably-damaging	121/860,121/860	14883271	2,10560	2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883271C>T	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.362G>A	X.37:g.14883271C>T	ENSP00000326819:p.Arg121His					FANCB_ENST00000324138.3_Missense_Mutation_p.R121H	p.R121H	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	629	-	Hepatocellular(33;0.183)		121					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.362G>A	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	5.342	0.248475	0.10130	2.61E-4	1.49E-4	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.38077	1.16;1.16;1.16	5.82	3.06	0.35304	.	0.549764	0.21618	N	0.071681	T	0.33702	0.0872	M	0.62723	1.935	0.09310	N	1	D	0.63046	0.992	P	0.49047	0.599	T	0.18555	-1.0333	10	0.15066	T	0.55	0.641	2.3825	0.04357	0.2275:0.4475:0.1807:0.1443	.	121	Q8NB91	FANCB_HUMAN	H	121	ENSP00000326819:R121H;ENSP00000381378:R121H;ENSP00000397849:R121H	ENSP00000326819:R121H	R	-	2	0	FANCB	14793192	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.017000	0.12590	0.212000	0.20703	0.600000	0.82982	CGT		0.313	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		20	7	0	0	0	1	0	20	7					T	14883271	C	T	14883271	3	4	311	1	0	0	0	0	1	0	0	0	5663	536	19	1	2249	1	FANCB	23	14883271	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4982418	14883271	140387289	654	31728											
ACOT9	23597	broad.mit.edu	37	chrX	23723697	23723698	+	Frame_Shift_Ins	INS	-	-	A													aaccaccaaagatccgattgINSaaaatgttccgctcctacag							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	ENST00000336430.7	-	12	1051_1052	c.920_921insT	c.(919-921)ttcfs	p.F307fs	ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.F247fs|ACOT9_ENST00000379303.5_Frame_Shift_Ins_p.F316fs	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	307					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(946-948)taafs		acyl-CoA thioesterase 9																																				SO:0001589	frameshift_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723697_23723698insA	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.921dupT	X.37:g.23723701_23723701dupA	ENSP00000336580:p.Phe307fs					ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.*247fs|ACOT9_ENST00000336430.7_Frame_Shift_Ins_p.*307fs	p.*316fs	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			13	1075_1076	-			307					B3KNC9|B7ZM94	Frame_Shift_Ins	INS	ENST00000336430.7	37	c.947_948insT	CCDS35216.1																																																																																				0.401	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		97	36						97	36	---	---	---	---	A	23723698	-	A	23723697	7	5	311	1	0	1	1	0	0	0	0	0	157	1281	45	0	414	0	ACOT9	23	23723697	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	8840426	23723697	131546863	655	31729											
MAGEB6	158809	broad.mit.edu	37	chrX	26212350	26212350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatgatgtggctgccaaCggccaagatgagaaaagtcc	11	8	0	3	rs183964860		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	ENST00000379034.1	+	2	536	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(385-387)aaC>aaT		melanoma antigen family B, 6							86	78	81					X																	26212350		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212350C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.387C>T	X.37:g.26212350C>T							p.N129N	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	536	+			129			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.387C>T	CCDS14217.1																																																																																				0.557	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		78	18	0	0	0	1	0	78	18					T	26212350	C	T	26212350	2	4	311	1	0	0	0	0	0	0	0	1	9179	535	19	1		1	MAGEB6	23	26212350	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2488653	26212350	129058210	656	31730											
FAM47A	158724	broad.mit.edu	37	chrX	34149532	34149532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaggctctgtgggttcGtcagttgtcttctcccggcc	11	13	4	0	rs375410896		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	ENST00000346193.3	-	1	915	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(862-864)gaC>gaT		family with sequence similarity 47, member A		G		0,3831		0,0,1630,571	25	26	26		864	-0.3	0	X		26	1,6725		0,1,2426,1872	no	coding-synonymous	FAM47A	NM_203408.3		0,1,4056,2443	AA,AG,GG,G		0.0149,0.0,0.0095		288/792	34149532	1,10556	2201	4299	6500	SO:0001819	synonymous_variant	158724							g.chrX:34149532G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.864C>T	X.37:g.34149532G>A							p.D288D	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	915	-			288					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.864C>T	CCDS43926.1																																																																																				0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		13	29	0	0	0	1	0	13	29					A	34149532	G	A	34149532	2	1	311	1	0	0	0	0	0	0	0	1	5569	1136	40	1		1	FAM47A	23	34149532	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7937182	34149532	121121028	657	31731											
RGN	9104	broad.mit.edu	37	chrX	46951573	46951573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgggatgggatggaccccGagggtcttttgaggcaacct	15	11	1	1	rs184658792		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	ENST00000352078.4	+	6	1153	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_ENST00000336169.3_Missense_Mutation_p.E270K|RGN_ENST00000397180.1_Missense_Mutation_p.E270K|RGN_ENST00000457380.1_Missense_Mutation_p.E198K	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	270					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463													G|||	3	0.000794702	0.0	0.0	3775	,	,		12295	0.003		0.0	False		,,,				2504	0.0					ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(808-810)Gag>Aag		regucalcin							62	61	62					X																	46951573		2201	4297	6498	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951573G>A	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"senescence marker protein-30", "gluconolactonase"	300212	"regucalcin (senescence marker protein-30)"			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.808G>A	X.37:g.46951573G>A	ENSP00000253303:p.Glu270Lys					RGN_ENST00000352078.4_Missense_Mutation_p.E270K|RGN_ENST00000457380.1_Missense_Mutation_p.E198K|RGN_ENST00000336169.3_Missense_Mutation_p.E270K	p.E270K	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN			7	1777	+			270					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.808G>A	CCDS14272.1	2	0.0012055455093429777	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.85	2.360906	0.41801	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	.	.	.	5.61	3.79	0.43588	Six-bladed beta-propeller, TolB-like (1);	0.441485	0.25461	N	0.030506	T	0.39226	0.1070	L	0.55990	1.75	0.09310	N	0.999997	B;B	0.29115	0.233;0.003	B;B	0.17979	0.02;0.003	T	0.15235	-1.0444	9	0.23302	T	0.38	-26.2158	11.9421	0.52907	0.0:0.1285:0.7346:0.1369	.	198;270	Q15493-2;Q15493	.;RGN_HUMAN	K	270;198;270;270	.	ENSP00000338400:E270K	E	+	1	0	RGN	46836517	0.759000	0.28416	0.001000	0.08648	0.449000	0.32228	2.494000	0.45329	0.522000	0.28464	0.458000	0.33432	GAG		0.463	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		12	2	0	0	0	1	0	12	2					A	46951573	G	A	46951573	3	1	311	1	0	0	0	0	1	0	0	0	13282	1059	37	1	826	1	RGN	23	46951573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12802041	46951573	108318987	658	31732											
CACNA1F	778	broad.mit.edu	37	chrX	49088267	49088267	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctgtgctggtttcttcGcttaggggtccctaggcctg	13	11	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	ENST00000376265.2	-	2	209	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					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)	TGGTTTCTTCGCTTAGGGGTC	0.652																																						ENST00000376265.2																			0				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	GRCh37	CM010173	CACNA1F	M		c.(148-150)Cga>Tga		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						88	63	71					X																	49088267		2202	4299	6501	SO:0001587	stop_gained	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49088267G>A	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.148C>T	X.37:g.49088267G>A	ENSP00000365441:p.Arg50*					CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*	p.R50*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			2	209	-			50					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	c.148C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883871	0.91814	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	.	.	.	4.42	3.54	0.40534	.	0.549745	0.16739	N	0.201519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.194	0.48703	0.0:0.0:0.6723:0.3277	.	.	.	.	X	50	.	.	R	-	1	2	CACNA1F	48975211	0.282000	0.24268	0.946000	0.38457	0.728000	0.41692	0.634000	0.24614	0.951000	0.37770	0.436000	0.28706	CGA		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		6	17	0	0	0	1	0	6	17					A	49088267	G	A	49088267	4	1	311	1	0	0	0	0	0	1	0	0	2543	1095	38	1	5973	1	CACNA1F	23	49088267	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2136694	49088267	106182293	659	31733											
DGKK	139189	broad.mit.edu	37	chrX	50147116	50147116	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattgcagtgctgggtccGgtggctgtaactggagtacc	14	9	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	ENST00000376025.2	-	0	1068							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)					TGCTGGGTCCGGTGGCTGTAA	0.438																																						ENST00000376025.2																			0				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								diacylglycerol kinase, kappa							80	74	76					X																	50147116		1975	4157	6132			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50147116G>A	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.50147116G>A										Q5KSL6	DGKK_HUMAN			0	1068	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.438	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		19	9	0	0	0	1	0	19	9					A	50147116	G	A	50147116	1	1	311	0	1	0	0	0	0	0	0	0	4472	1115	39	1		1	DGKK	23	50147116	RNA	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1058849	50147116	105123444	660	31734											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857963	62857963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagaatggtgactggctgCgcttgggttcggtgaactca	15	9	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	ENST00000253401.6	-	10	2296	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	499					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)	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493																																						ENST00000253401.6																			3	Substitution - Missense(3)	p.R497H(2)|p.R499H(1)	lung(2)|large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1495-1497)cGc>cAc		Cdc42 guanine nucleotide exchange factor (GEF) 9							72	62	65					X																	62857963		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857963C>T	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.1496G>A	X.37:g.62857963C>T	ENSP00000253401:p.Arg499His					ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H	p.R499H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			10	2296	-			499					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1496G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645618	0.87958	.	.	ENSG00000131089	ENST00000253401;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T	0.76968	-0.91;-1.06;-0.77;-0.61;-1.0	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	L	0.56199	1.76	0.54753	D	0.999989	D;D;D	0.89917	1.0;0.998;0.997	P;P;P	0.62435	0.902;0.902;0.861	D	0.86055	0.1528	10	0.72032	D	0.01	.	16.5115	0.84287	0.0:1.0:0.0:0.0	.	446;499;499	B4DHC7;O43307;A8K1S8	.;ARHG9_HUMAN;.	H	499;446;397;226;478	ENSP00000253401:R499H;ENSP00000399994:R446H;ENSP00000364004:R397H;ENSP00000404478:R226H;ENSP00000364006:R478H	ENSP00000253401:R499H	R	-	2	0	ARHGEF9	62774688	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.271000	0.78506	2.205000	0.71048	0.429000	0.28392	CGC		0.493	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			7	14	0	0	0	1	0	7	14					T	62857963	C	T	62857963	3	4	311	1	0	0	0	0	1	0	0	0	912	768	27	1	58	1	ARHGEF9	23	62857963	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12710847	62857963	92412597	661	31735											
HEPH	9843	broad.mit.edu	37	chrX	65427138	65427138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtacattcaggatccctcGgccaaggactggaccagaag	12	11	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	ENST00000343002.2	+	13	3057	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000519389.1_Missense_Mutation_p.R852Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2554-2556)cGg>cAg		hephaestin							105	87	93					X																	65427138		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427138G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2393G>A	X.37:g.65427138G>A	ENSP00000343939:p.Arg798Gln					HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R798Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q	p.R852Q			Q9BQS7	HEPH_HUMAN			14	2734	+			798			Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2555G>A		.	.	.	.	.	.	.	.	.	.	G	11.26	1.585313	0.28268	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	4.85	-3.47	0.04753	Cupredoxin (2);	0.527347	0.18996	N	0.125498	D	0.92293	0.7555	N	0.10916	0.065	0.09310	N	1	B;B;P;B	0.36495	0.017;0.008;0.556;0.029	B;B;B;B	0.28465	0.007;0.004;0.09;0.004	D	0.87997	0.2753	10	0.35671	T	0.21	.	8.8732	0.35330	0.6789:0.0:0.2:0.1212	.	852;198;609;798	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	Q	852;801;531;801;609;798;755	ENSP00000430620:R852Q;ENSP00000363859:R801Q;ENSP00000337418:R531Q;ENSP00000411687:R801Q;ENSP00000413211:R609Q;ENSP00000343939:R798Q;ENSP00000398078:R755Q	ENSP00000337418:R531Q	R	+	2	0	HEPH	65343863	0.000000	0.05858	0.003000	0.11579	0.910000	0.53928	-0.117000	0.10708	-1.444000	0.01950	-0.498000	0.04607	CGG		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	18	0	0	0	1	0	5	18					A	65427138	G	A	65427138	3	1	311	1	0	0	0	0	1	0	0	0	7054	1116	39	1	2609	1	HEPH	23	65427138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2569175	65427138	89843422	662	31736											
ZMYM3	9203	broad.mit.edu	37	chrX	70464210	70464210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcatattttgactgcacCcagcacttccaagcattgac	7	12	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	ENST00000353904.2	-	20	3409	c.3222G>T	c.(3220-3222)tgG>tgT	p.W1074C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.W1062C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1074					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)					TTGACTGCACCCAGCACTTCC	0.557																																						ENST00000373998.1																			0				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						c.(3184-3186)tgG>tgT		zinc finger, MYM-type 3							103	76	85					X																	70464210		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70464210C>A	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.3222G>T	X.37:g.70464210C>A	ENSP00000343909:p.Trp1074Cys					ZMYM3_ENST00000353904.2_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C	p.W1062C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			20	3883	-	Renal(35;0.156)		1074					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3186G>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.221333	0.79464	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.76448	-0.4;-1.02;-0.4;-0.76;-0.35	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000002	D	0.87613	0.6221	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89063	0.3464	10	0.87932	D	0	-9.5826	17.6344	0.88118	0.0:1.0:0.0:0.0	.	1062;1074	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1074;1062;1074;1076;1076	ENSP00000322845:W1074C;ENSP00000363110:W1062C;ENSP00000343909:W1074C;ENSP00000363096:W1076C;ENSP00000363100:W1076C	ENSP00000322845:W1074C	W	-	3	0	ZMYM3	70380935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.870000	0.75526	2.350000	0.79820	0.529000	0.55759	TGG		0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	22	1	0	4.96729e-08	1	5.04788e-08	19	22					A	70464210	C	A	70464210	3	1	311	1	0	0	0	0	1	0	0	0	17698	624	22	4	914	4	ZMYM3	23	70464210	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5037072	70464210	84806350	663	31737											
POF1B	79983	broad.mit.edu	37	chrX	84563165	84563165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtccaagctcctcccGtatgttgctaaatgtggaca	9	10	0	1	rs200939713		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	ENST00000262753.4	-	10	1160	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339						tight junction (GO:0005923)		p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358													G|||	1	0.000264901	0.0	0.0	3775	,	,		11485	0.0		0.001	False		,,,				2504	0.0					ENST00000262753.4																			1	Substitution - coding silent(1)	p.R339R(1)	lung(1)	central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1015-1017)Cgg>Tgg		premature ovarian failure, 1B							91	79	83					X																	84563165		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84563165G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1015C>T	X.37:g.84563165G>A	ENSP00000262753:p.Arg339Trp					POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			10	1160	-			339					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.1015C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880271	0.72294	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.25579	1.8;1.79	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	L	0.59436	1.845	0.50632	D	0.999888	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47749	-0.9093	10	0.87932	D	0	20.2429	14.1325	0.65263	0.0:0.0:0.8485:0.1515	.	339;339	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	W	339	ENSP00000262753:R339W;ENSP00000362238:R339W	ENSP00000262753:R339W	R	-	1	2	POF1B	84449821	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.942000	0.56614	1.198000	0.43158	0.600000	0.82982	CGG		0.358	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		46	11	0	0	0	1	0	46	11					A	84563165	G	A	84563165	3	1	311	1	0	0	0	0	1	0	0	0	12182	1144	40	1	786	1	POF1B	23	84563165	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14098955	84563165	70707395	664	31738											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999270	104999270	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgctcttgaagtacTgccagatgtcctggaaaaac	10	9	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	ENST00000372582.1	+	10	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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						CTTGAAGTACTGCCAGATGTC	0.378																																						ENST00000372582.1																			0				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						c.(1291-1293)cTg>cAg		interleukin 1 receptor accessory protein-like 2							132	121	125					X																	104999270		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104999270T>A	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.1292T>A	X.37:g.104999270T>A	ENSP00000361663:p.Leu431Gln					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q|IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.L36Q	p.L431Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			10	2048	+			431			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1292T>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822561	0.71028	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.09630	2.96;2.96;2.96	5.62	5.62	0.85841	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.48286	D	0.000186	T	0.42787	0.1218	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55341	-0.8156	10	0.87932	D	0	.	13.9067	0.63841	0.0:0.0:0.0:1.0	.	431	Q9NP60	IRPL2_HUMAN	Q	431;431;36	ENSP00000361663:L431Q;ENSP00000344976:L431Q;ENSP00000445576:L36Q	ENSP00000344976:L431Q	L	+	2	0	IL1RAPL2	104885926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.881000	0.54492	0.486000	0.48141	CTG		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		30	101	0	0	0	1	0	30	101					A	104999270	T	A	104999270	3	1	311	1	0	0	0	0	1	0	0	0	7662	1580	55	5	1326	5	IL1RAPL2	23	104999270	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	20436105	104999270	50271290	665	31739											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	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																																						ENST00000372129.2																			0				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						c.(1771-1773)gaafs		insulin receptor substrate 4				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					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	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						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	564						8	564	---	---	---	---	C	107977803	-	C	107977802	7	5	311	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	2978532	107977802	47292758	666	31740											
SLC6A14	11254	broad.mit.edu	37	chrX	115582769	115582770	+	Frame_Shift_Ins	INS	-	-	T													cgtgtttgctggatttgctaINSttttttctatattgggacac							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	ENST00000371900.4	+	8	1181_1182	c.1093_1094insT	c.(1093-1095)attfs	p.I365fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	365					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TGGATTTGCTATTTTTTCTATA	0.332																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1093-1095)tttfs		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582769_115582770insT	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1099dupT	X.37:g.115582775_115582775dupT	ENSP00000360967:p.Ile365fs						p.F365fs	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN			8	1181_1182	+			365					Q5H942	Frame_Shift_Ins	INS	ENST00000371900.4	37	c.1093_1094insT	CCDS14570.1																																																																																				0.332	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			157	49						157	49	---	---	---	---	T	115582770	-	T	115582769	7	5	311	1	0	1	1	0	0	0	0	0	14677	449	16	0	1123	0	SLC6A14	23	115582769	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	7604967	115582769	39687791	667	31741											
MST4	90167	broad.mit.edu	37	chrX	131208175	131208175	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttataggtgttcagcagaCgaatccccctaagaaactta	7	9	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:131208175C>T	ENST00000298542.4	-	0	3198				MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000481105.1_Silent_p.D435D|MST4_ENST00000394334.2_Silent_p.D413D|MST4_ENST00000394335.2_Silent_p.D336D	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7						regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D413D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363													C|||	1	0.000264901	0.0	0.0014	3775	,	,		11124	0.0		0.0	False		,,,				2504	0.0					ENST00000394334.2																			1	Substitution - coding silent(1)	p.D413D(1)	large_intestine(1)	endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1237-1239)gaC>gaT									99	97	98					X																	131208175		2203	4298	6501	SO:0001628	intergenic_variant	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131208175C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421		X.37:g.131208175C>T						MST4_ENST00000394335.2_Silent_p.D336D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000481105.1_Silent_p.D435D	p.D413D	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			12	1492	+	Acute lymphoblastic leukemia(192;0.000127)		413					C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	c.1239C>T	CCDS35397.1																																																																																				0.363	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		124	21	0	0	0	1	0	124	21					T	131208175	C	T	131208175	1	4	311	0	1	0	0	0	0	0	0	0	9892	535	19	1		1	MST4	23	131208175	IGR	SNP	C	TCGA-HT-8564-01A-11D-2395-08	15625406	131208175	24062385	668	31742											
USP26	83844	broad.mit.edu	37	chrX	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-													tctatattataggtatctttAaaaaaaagtagccgtgccaa					rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348	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)	p.F348fs*7(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)					AGGTATCTTTAAAAAAAAGTA	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			1	Deletion - Frameshift(1)	p.F348fs*7(1)	large_intestine(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	GRCh37	CM077651	USP26	M	rs61758857	c.(1042-1044)ttfs		ubiquitin specific peptidase 26							35	37	36					X																	132161205		2198	4295	6493	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161205delA	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.1044delT	X.37:g.132161205delA	ENSP00000423390:p.Phe348fs					USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1513	-	Acute lymphoblastic leukemia(192;0.000127)		348					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1044delT	CCDS14635.1																																																																																				0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		84	37						84	37	---	---	---	---	-	132161205	A	-	132161205	7	5	311	1	0	1	0	1	0	0	0	0	17054	359	13	0	1700	0	USP26	23	132161205	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	953030	132161205	23109355	669	31743											
ATP11C	286410	broad.mit.edu	37	chrX	138869332	138869334	+	Splice_Site	DEL	TCT	TCT	-													tcaaacacagagctacttacTcttctatttcttttctttgg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	ENST00000327569.3	-	15	1697_1699	c.1599_1601delAGA	c.(1597-1602)gaagaa>gaa	p.533_534EE>E	ATP11C_ENST00000361648.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000370543.1_Splice_Site_p.533_534EE>E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000370557.1_Splice_Site_p.530_531EE>E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	533					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)					AGCTACTTACTCTTCTATTTCTT	0.345																																						ENST00000370557.1																			0				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						c.e15+1		ATPase, class VI, type 11C																																				SO:0001630	splice_region_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138869332_138869334delTCT	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.1601+1AGA>-	X.37:g.138869335_138869337delTCT						ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Splice_Site_p.EE533_splice|ATP11C_ENST00000327569.3_Splice_Site_p.EE533_splice|ATP11C_ENST00000361648.2_Splice_Site_p.EE533_splice|ATP11C_ENST00000359686.2_Splice_Site_p.EE533_splice	p.EE530_splice			Q8NB49	AT11C_HUMAN			15	2617_2619	-	Acute lymphoblastic leukemia(192;0.000127)		533					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Splice_Site	DEL	ENST00000327569.3	37	c.1592_splice	CCDS14668.1																																																																																				0.345	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	In_Frame_Del	28	14						28	14	---	---	---	---	-	138869334	TCT	-	138869332	8	5	311	1	0	1	0	1	0	0	1	0	1121	1565	54	0	1924	0	ATP11C	23	138869332	Splice_Site	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	6708127	138869332	16401228	670	31744											
GDI1	2664	broad.mit.edu	37	chrX	153670771	153670771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgatgatggttgtgagaGccaggtaagcagctcgtccc	13	9	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	ENST00000447750.2	+	10	1522	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	396					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					GGTTGTGAGAGCCAGGTAAGC	0.612																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1186-1188)aGc>aAc		GDP dissociation inhibitor 1							110	99	103					X																	153670771		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670771G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1187G>A	X.37:g.153670771G>A	ENSP00000394071:p.Ser396Asn					GDI1_ENST00000465640.1_3'UTR	p.S396N	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			10	1522	+	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)		396					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.1187G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520804	0.44866	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.86366	-2.11	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	L	0.50919	1.6	0.80722	D	1	B	0.12630	0.006	B	0.21546	0.035	T	0.81777	-0.0777	10	0.52906	T	0.07	-23.0991	15.2682	0.73678	0.0:0.0:1.0:0.0	.	396	P31150	GDIA_HUMAN	N	396;366	ENSP00000394071:S396N	ENSP00000358756:S366N	S	+	2	0	GDI1	153323965	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.760000	0.98935	2.195000	0.70347	0.513000	0.50165	AGC		0.612	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		131	31	0	0	0	1	0	131	31					A	153670771	G	A	153670771	3	1	311	1	0	0	0	0	1	0	0	0	6320	971	34	2	1225	2	GDI1	23	153670771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14801439	153670771	1599789	671	31745											
FAM50A	9130	broad.mit.edu	37	chrX	153678435	153678437	+	In_Frame_Del	DEL	GGA	GGA	-													ttgctcagtgacgccactgtGgagaaggatgaggtacagcg							TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	ENST00000393600.3	+	11	998_1000	c.888_890delGGA	c.(886-891)gtggag>gtg	p.E297del		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	297					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E297*(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616																																						ENST00000393600.3																			1	Substitution - Nonsense(1)	p.E297*(1)	lung(1)	breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15						c.(886-891)gtg>gt		family with sequence similarity 50, member A																																				SO:0001651	inframe_deletion	9130				spermatogenesis	nucleus		g.chrX:153678435_153678437delGGA	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9928 expressed sequence"	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.888_890delGGA	X.37:g.153678435_153678437delGGA	ENSP00000377225:p.Glu297del						p.VE296del	NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN			11	998_1000	+	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)		296					A8KAQ4|B2R997|Q5HY37|Q6PJH5	In_Frame_Del	DEL	ENST00000393600.3	37	c.888_890delGGA	CCDS14751.1																																																																																				0.616	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		93	63						93	63	---	---	---	---	-	153678437	GGA	-	153678435	7	5	311	1	0	1	0	1	0	0	0	0	5577	1335	47	0	930	0	FAM50A	23	153678435	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	7664	153678435	1592125	672	31746											
RERE	473	broad.mit.edu	37	chr1	8415150	8415150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaacaaataaataacttaTaactgcttgtcaccttcttt	3	8	2	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	ENST00000337907.3	-	24	5332	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F|RERE_ENST00000476556.1_Missense_Mutation_p.L1012F|RERE_ENST00000400908.2_Missense_Mutation_p.L1566F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1566					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4696-4698)ttA>ttC		arginine-glutamic acid dipeptide (RE) repeats							67	68	68					1																	8415150		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8415150T>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4698A>C	1.37:g.8415150T>G	ENSP00000338629:p.Leu1566Phe					RERE_ENST00000476556.1_Missense_Mutation_p.L1012F|RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F|RERE_ENST00000400908.2_Missense_Mutation_p.L1566F	p.L1566F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	24	5332	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1566					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4698A>C	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459916	0.63401	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000476556;ENST00000400908	T;T;T	0.71817	-0.6;-0.56;-0.6	5.67	4.55	0.56014	.	.	.	.	.	T	0.80177	0.4575	M	0.68952	2.095	0.54753	D	0.999987	D	0.76494	0.999	D	0.87578	0.998	T	0.80153	-0.1501	9	0.87932	D	0	.	7.9218	0.29850	0.0:0.157:0.0:0.843	.	1566	Q9P2R6	RERE_HUMAN	F	1566;1298;584;1012;1566	ENSP00000338629:L1566F;ENSP00000366684:L1298F;ENSP00000383700:L1566F	ENSP00000338629:L1566F	L	-	3	2	RERE	8337737	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.241000	0.51376	1.002000	0.39104	0.459000	0.35465	TTA		0.438	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	14	0	0	0	1	0	17	14					G	8415150	T	G	8415150	3	3	312	1	0	0	0	0	1	0	0	0	13231	1403	49	5	6	5	RERE	1	8415150	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		8415150	240835471	1	31747											
EPHA8	2046	broad.mit.edu	37	chr1	22924293	22924293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggacttcctgagcgaggcGtccatcatggggcaattcga	14	11	1	1	rs201370742		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	ENST00000166244.3	+	11	2127	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2053-2055)gcG>gcA		EPH receptor A8							90	92	91					1																	22924293		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924293G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2055G>A	1.37:g.22924293G>A							p.A685A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2127	+		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)	685			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2055G>A	CCDS225.1																																																																																				0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		71	56	0	0	0	1	0	71	56					A	22924293	G	A	22924293	2	1	312	1	0	0	0	0	0	0	0	1	5173	1132	40	1		1	EPHA8	1	22924293	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	14509143	22924293	226326328	2	31748											
C1orf130	400746	broad.mit.edu	37	chr1	24932146	24932146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggccccaagccaaccGccccttctgccgtgggccca	10	20	1	0	rs113438005		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:24932146G>A	ENST00000374392.2	+	4	283	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	73					peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										CAAGCCAACCGCCCCTTCTGC	0.592																																						ENST00000374392.2																			0											c.(217-219)Gcc>Acc		noncompact myelin associated protein							78	66	70					1																	24932146		2203	4300	6503	SO:0001583	missense	400746							g.chr1:24932146G>A	AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"myelin protein of 11 kDa"		"chromosome 1 open reading frame 130"	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.217G>A	1.37:g.24932146G>A	ENSP00000363513:p.Ala73Thr					NCMAP_ENST00000486262.1_3'UTR	p.A73T	NM_001010980.4	NP_001010980.1					4	283	+								A0PK04|B2RV34	Missense_Mutation	SNP	ENST00000374392.2	37	c.217G>A	CCDS30632.1	.	.	.	.	.	.	.	.	.	.	G	0.372	-0.933352	0.02359	.	.	ENSG00000184454	ENST00000374392	.	.	.	5.72	-4.44	0.03557	.	0.701336	0.14273	N	0.330007	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13926	-1.0491	9	0.24483	T	0.36	-5.1533	2.9136	0.05745	0.4871:0.076:0.2631:0.1738	.	73	Q5T1S8	CA130_HUMAN	T	73	.	ENSP00000363513:A73T	A	+	1	0	C1orf130	24804733	0.000000	0.05858	0.001000	0.08648	0.402000	0.30811	-0.325000	0.07976	-0.931000	0.03746	-1.170000	0.01741	GCC		0.592	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009288.2	NM_001010980		12	43	0	0	0	1	0	12	43					A	24932146	G	A	24932146	3	1	312	1	0	0	0	0	1	0	0	0	1997	1087	38	1	227	1	C1orf130	1	24932146	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	2007853	24932146	224318475	3	31749											
RUNX3	864	broad.mit.edu	37	chr1	25228881	25228881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagaggtggtagggggacGggttggcctggaagggcccg	22	6	0	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	ENST00000308873.6	-	5	988	c.980C>T	c.(979-981)cCg>cTg	p.P327L	RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L|RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000399916.1_Missense_Mutation_p.P341L	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	327	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1021-1023)cCg>cTg		runt-related transcription factor 3							23	29	27					1																	25228881		2203	4299	6502	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25228881G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.980C>T	1.37:g.25228881G>A	ENSP00000308051:p.Pro327Leu					RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L|RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000308873.6_Missense_Mutation_p.P327L	p.P341L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1460	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	327			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.1022C>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162515	0.78226	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	3.93	3.93	0.45458	Runx inhibition (1);	0.119515	0.64402	D	0.000016	T	0.47154	0.1430	L	0.40543	1.245	0.52501	D	0.999956	D;D;D	0.89917	0.975;1.0;1.0	P;D;D	0.91635	0.61;0.999;0.998	T	0.51148	-0.8742	10	0.66056	D	0.02	-24.8831	16.5071	0.84274	0.0:0.0:1.0:0.0	.	274;341;327	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	L	341;327;341;234;274	ENSP00000382800:P341L;ENSP00000308051:P327L;ENSP00000343477:P341L;ENSP00000444872:P234L	ENSP00000308051:P327L	P	-	2	0	RUNX3	25101468	1.000000	0.71417	0.982000	0.44146	0.905000	0.53344	7.266000	0.78452	2.204000	0.70986	0.462000	0.41574	CCG		0.692	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		10	34	0	0	0	1	0	10	34					A	25228881	G	A	25228881	3	1	312	1	0	0	0	0	1	0	0	0	13749	1116	39	1	271	1	RUNX3	1	25228881	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	296735	25228881	224021740	4	31750											
IPO9	55705	broad.mit.edu	37	chr1	201824023	201824023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcagattctgcctattgttTggaacaccctaaccgagagt	9	10	1	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	ENST00000361565.4	+	8	952	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	295					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						GCCTATTGTTTGGAACACCCT	0.448																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(883-885)Tgg>Cgg		importin 9							149	144	146					1																	201824023		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201824023T>C	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.883T>C	1.37:g.201824023T>C	ENSP00000354742:p.Trp295Arg						p.W295R	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			8	952	+			295					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.883T>C	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335486	0.81801	.	.	ENSG00000198700	ENST00000361565	T	0.67523	-0.27	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.104953	0.64402	D	0.000001	T	0.80226	0.4584	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81134	-0.1071	10	0.48119	T	0.1	-7.6342	12.9996	0.58667	0.0:0.0:0.0:1.0	.	295	Q96P70	IPO9_HUMAN	R	295	ENSP00000354742:W295R	ENSP00000354742:W295R	W	+	1	0	IPO9	200090646	1.000000	0.71417	0.943000	0.38184	0.990000	0.78478	7.563000	0.82314	2.015000	0.59207	0.460000	0.39030	TGG		0.448	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		13	63	0	0	0	1	0	13	63					C	201824023	T	C	201824023	3	2	312	1	0	0	0	0	1	0	0	0	7799	1812	63	3	913	3	IPO9	1	201824023	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	176595142	201824023	47426598	5	31751											
DYSF	8291	broad.mit.edu	37	chr2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgcacgctggagcccGtatttggaaagtaaattggg	12	10	0	0	rs147056383	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	ENST00000258104.3	+	44	5153	c.4876G>A	c.(4876-4878)Gta>Ata	p.V1626I	DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1626	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507													G|||	9	0.00179712	0.0	0.0	5008	,	,		18916	0.0089		0.0	False		,,,				2504	0.0					ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CD053554	DYSF	D	rs147056383	c.(4876-4878)Gta>Ata		dysferlin							122	109	113					2																	71887771		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71887771G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4876G>A	2.37:g.71887771G>A	ENSP00000258104:p.Val1626Ile					DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I	p.V1626I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			44	5153	+			1626			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4876G>A	CCDS1918.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	13.67	2.306250	0.40795	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.225924	0.45126	D	0.000389	T	0.48132	0.1483	L	0.28014	0.82	0.36914	D	0.89103	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27264	0.027;0.044;0.044;0.173;0.105;0.022;0.091;0.022;0.018;0.044;0.002;0.091;0.059;0.105;0.128	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28385	0.023;0.02;0.033;0.053;0.036;0.008;0.022;0.012;0.022;0.02;0.022;0.022;0.036;0.053;0.089	T	0.54721	-0.8251	10	0.14656	T	0.56	-6.878	12.5135	0.56019	0.0:0.0:0.8334:0.1666	.	390;1658;1665;1648;1613;1644;1634;1643;1633;1657;1664;1647;1612;1627;1626	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	I	1657;1643;1664;1647;1626;1658;1627;1634;1648;1665;1644	ENSP00000407046:V1657I;ENSP00000387137:V1643I;ENSP00000386547:V1664I;ENSP00000398305:V1647I;ENSP00000258104:V1626I;ENSP00000386683:V1658I;ENSP00000377678:V1627I;ENSP00000386285:V1634I;ENSP00000386512:V1648I;ENSP00000386881:V1665I;ENSP00000386617:V1644I	ENSP00000258104:V1626I	V	+	1	0	DYSF	71741279	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	5.725000	0.68507	2.754000	0.94517	0.549000	0.68633	GTA		0.507	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	28	0	0	0	1	0	5	28					A	71887771	G	A	71887771	3	1	312	1	0	0	0	0	1	0	0	0	4859	1145	40	1	5309	1	DYSF	2	71887771	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		71887771	171311602	6	31752											
COL4A4	1286	broad.mit.edu	37	chr2	227876966	227876966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccaggagacccagggaCgccatccacacccctcctgc	10	19	0	1	rs368105222	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	ENST00000396625.3	-	45	4471	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1422	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567													C|||	4	0.000798722	0.0	0.0	5008	,	,		15827	0.0		0.0	False		,,,				2504	0.0041					ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4264-4266)Gtc>Atc		collagen, type IV, alpha 4		C	ILE/VAL	1,3933		0,1,1966	52	59	57		4264	-11.4	0	2		57	0,8300		0,0,4150	no	missense	COL4A4	NM_000092.4	29	0,1,6116	TT,TC,CC		0.0,0.0254,0.0082	benign	1422/1691	227876966	1,12233	1967	4150	6117	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227876966C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4264G>A	2.37:g.227876966C>T	ENSP00000379866:p.Val1422Ile					COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I	p.V1422I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	45	4471	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1422			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4264G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956427	0.02267	2.54E-4	0.0	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93604	-3.25;-3.25	5.71	-11.4	0.00090	.	.	.	.	.	T	0.79947	0.4534	N	0.12422	0.21	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.64571	-0.6376	9	0.16420	T	0.52	.	7.3874	0.26891	0.1128:0.6038:0.1721:0.1112	.	1422	P53420	CO4A4_HUMAN	I	1422;1419	ENSP00000379866:V1422I;ENSP00000328553:V1419I	ENSP00000328553:V1419I	V	-	1	0	COL4A4	227585210	0.000000	0.05858	0.003000	0.11579	0.039000	0.13416	-4.720000	0.00194	-2.268000	0.00685	-1.327000	0.01280	GTC		0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		15	31	0	0	0	1	0	15	31					T	227876966	C	T	227876966	3	4	312	1	0	0	0	0	1	0	0	0	3693	536	19	1	824	1	COL4A4	2	227876966	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	155989195	227876966	15322407	7	31753											
SAG	6295	broad.mit.edu	37	chr2	234235841	234235841	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagaggacaaaatccccaaGaagtaagagtatggttgcgg	13	6	0	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	ENST00000409110.1	+	7	740	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_ENST00000449594.2_Missense_Mutation_p.K36N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	170					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)		AAATCCCCAAGAAGTAAGAGT	0.552																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(508-510)aaG>aaC		S-antigen; retina and pineal gland (arrestin)							122	123	123					2																	234235841		2054	4183	6237	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234235841G>C		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.510G>C	2.37:g.234235841G>C	ENSP00000386444:p.Lys170Asn					SAG_ENST00000449594.2_Missense_Mutation_p.K36N	p.K170N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		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)	7	740	+		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)	170					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.510G>C	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625951	0.46840	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.23950	1.88;1.88	3.96	2.66	0.31614	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.047601	0.85682	D	0.000000	T	0.45357	0.1338	M	0.89715	3.055	0.46521	D	0.999086	D;D	0.59767	0.971;0.986	P;P	0.55260	0.461;0.772	T	0.48281	-0.9049	9	.	.	.	-17.2373	6.9258	0.24414	0.2649:0.0:0.7351:0.0	.	36;170	B7Z7L5;P10523	.;ARRS_HUMAN	N	170;170;36	ENSP00000386444:K170N;ENSP00000392889:K36N	.	K	+	3	2	SAG	233900580	0.999000	0.42202	1.000000	0.80357	0.369000	0.29798	0.635000	0.24629	0.880000	0.35969	0.555000	0.69702	AAG		0.552	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		69	50	0	0	0	1	0	69	50					C	234235841	G	C	234235841	3	2	312	1	0	0	0	0	1	0	0	0	13808	933	33	4	532	4	SAG	2	234235841	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	6358875	234235841	8963532	8	31754											
TTLL3	26140	broad.mit.edu	37	chr3	9870897	9870897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctatggcgctgacttcGtgttcggggaggacttccag	14	10	1	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	ENST00000547186.1	+	10	1588	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000383827.1_Missense_Mutation_p.V246M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	458	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)					CGCTGACTTCGTGTTCGGGGA	0.617																																						ENST00000383827.1																			0				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						c.(736-738)Gtg>Atg		tubulin tyrosine ligase-like family, member 3							97	78	84					3																	9870897		2203	4300	6503	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9870897G>A		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.1372G>A	3.37:g.9870897G>A	ENSP00000446659:p.Val458Met					ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000547186.1_Missense_Mutation_p.V458M|TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M	p.V246M			Q9Y4R7	TTLL3_HUMAN			4	3017	+	Medulloblastoma(99;0.227)		458			TTL.		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.736G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.987|0.987	-0.695301|-0.695301	0.03303|0.03303	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.04551	.|3.6;3.6;3.6;3.6;3.6;3.6;3.6;3.6;3.6	4.93|4.93	3.09|3.09	0.35607|0.35607	.|.	.|0.126229	.|0.50627	.|U	.|0.000117	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.00260|0.00260	-1.75|-1.75	0.34618|0.34618	D|D	0.718343|0.718343	.|B;B;B;B;P;B	.|0.34800	.|0.04;0.088;0.136;0.107;0.469;0.081	.|B;B;B;B;B;B	.|0.28139	.|0.072;0.012;0.043;0.035;0.086;0.044	T|T	0.39057|0.39057	-0.9632|-0.9632	5|10	.|0.02654	.|T	.|1	.|.	6.0674|6.0674	0.19871|0.19871	0.1582:0.3062:0.5356:0.0|0.1582:0.3062:0.5356:0.0	.|.	.|397;246;246;458;519;246	.|B4DM47;Q9Y4R7-2;Q9Y4R7-5;Q9Y4R7;E7ETI0;C9JSD3	.|.;.;.;TTLL3_HUMAN;.;.	H|M	413|519;601;458;246;246;396;246;246;246	.|ENSP00000380427:V519M;ENSP00000392549:V601M;ENSP00000446659:V458M;ENSP00000380416:V246M;ENSP00000394462:V246M;ENSP00000398097:V396M;ENSP00000373338:V246M;ENSP00000409632:V246M;ENSP00000403874:V246M	.|ENSP00000380416:V246M	R|V	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9845897|9845897	0.491000|0.491000	0.26019|0.26019	0.998000|0.998000	0.56505|0.56505	0.781000|0.781000	0.44180|0.44180	0.858000|0.858000	0.27845|0.27845	1.043000|1.043000	0.40175|0.40175	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.617	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		33	21	0	0	0	1	0	33	21					A	9870897	G	A	9870897	3	1	312	1	0	0	0	0	1	0	0	0	16725	1145	40	1	1406	1	TTLL3	3	9870897	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9870897	188151533	9	31755											
ZNF654	55279	broad.mit.edu	37	chr3	88189554	88189554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaactattagtctgccagTttctactagcaaatcaagga	6	9	3	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	ENST00000309495.5	+	1	1301	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	365					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(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1093-1095)gTt>gCt		zinc finger protein 654							37	35	36					3																	88189554		1832	4084	5916	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189554T>C	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1094T>C	3.37:g.88189554T>C	ENSP00000312141:p.Val365Ala					CGGBP1_ENST00000462901.1_Intron	p.V365A	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1301	+		Lung NSC(201;0.0283)	365					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1094T>C	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852770	0.51270	.	.	ENSG00000175105	ENST00000309495	T	0.11063	2.81	5.53	5.53	0.82687	.	.	.	.	.	T	0.10551	0.0258	L	0.47716	1.5	0.35643	D	0.811143	P	0.39665	0.682	B	0.35182	0.197	T	0.28554	-1.0040	9	0.15952	T	0.53	.	14.83	0.70139	0.0:0.0:0.0:1.0	.	365	Q8IZM8	ZN654_HUMAN	A	365	ENSP00000312141:V365A	ENSP00000312141:V365A	V	+	2	0	ZNF654	88272244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.395000	0.52558	2.088000	0.63022	0.533000	0.62120	GTT		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		6	15	0	0	0	1	0	6	15					C	88189554	T	C	88189554	3	2	312	1	0	0	0	0	1	0	0	0	18064	1725	60	3	1096	3	ZNF654	3	88189554	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	78318657	88189554	109832876	10	31756											
HRG	3273	broad.mit.edu	37	chr3	186383868	186383868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcacattgcagtattcGtgtgccgtgagtcccactga	10	10	1	3	rs183341869		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	ENST00000232003.4	+	1	128	c.48G>A	c.(46-48)tcG>tcA	p.S16S	HRG_ENST00000468154.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	16					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19920	0.001		0.0	False		,,,				2504	0.0					ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(46-48)tcG>tcA		histidine-rich glycoprotein							118	103	108					3																	186383868		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186383868G>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.48G>A	3.37:g.186383868G>A						HRG_ENST00000468154.1_3'UTR	p.S16S	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	1	128	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		16					B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.48G>A	CCDS3280.1																																																																																				0.468	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		12	40	0	0	0	1	0	12	40					A	186383868	G	A	186383868	2	1	312	1	0	0	0	0	0	0	0	1	7354	1132	40	1		1	HRG	3	186383868	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	98194314	186383868	11638562	11	31757											
SLC2A9	56606	broad.mit.edu	37	chr4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatgcccatgatgaagcGtcccacgatgagcatttcaa	8	11	2	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	ENST00000264784.3	-	4	564	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C|SLC2A9_ENST00000506583.1_Missense_Mutation_p.R142C	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	171			R -> C (in RHUC2; markedly reduced urate transport activity). {ECO:0000269|PubMed:21810765}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	ATGATGAAGCGTCCCACGATG	0.517																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(424-426)Cgc>Tgc		solute carrier family 2 (facilitated glucose transporter), member 9							82	78	79					4																	9987317		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9987317G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.511C>T	4.37:g.9987317G>A	ENSP00000264784:p.Arg171Cys					SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R171C	p.R142C			Q9NRM0	GTR9_HUMAN			6	641	-			171					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.424C>T	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566443	0.65651	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.47	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	H	0.94306	3.52	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96816	0.9600	9	.	.	.	.	12.3539	0.55163	0.0826:0.0:0.9174:0.0	.	142;171	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	C	142;171;142;142	ENSP00000422209:R142C;ENSP00000264784:R171C;ENSP00000311383:R142C;ENSP00000426800:R142C	.	R	-	1	0	SLC2A9	9596415	1.000000	0.71417	0.900000	0.35374	0.236000	0.25371	4.675000	0.61619	1.315000	0.45114	-0.198000	0.12761	CGC		0.517	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			12	29	0	0	0	1	0	12	29					A	9987317	G	A	9987317	3	1	312	1	0	0	0	0	1	0	0	0	14552	1145	40	1	1147	1	SLC2A9	4	9987317	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9987317	181166959	12	31758											
MUC7	4589	broad.mit.edu	37	chr4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccaaaataaaatttctcGatttcttttatatatgaaga	5	5	2	2	rs145866670	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	ENST00000304887.5	+	3	1263	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q|MUC7_ENST00000413702.1_Missense_Mutation_p.R358Q	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20675	0.0		0.001	False		,,,				2504	0.0					ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1072-1074)cGa>cAa		mucin 7, secreted		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	64	71	69		1073,1073,1073	-2.5	0	4	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MUC7	NM_001145006.1,NM_001145007.1,NM_152291.2	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	358/378,358/378,358/378	71347534	1,13005	2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347534G>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.1073G>A	4.37:g.71347534G>A	ENSP00000302021:p.Arg358Gln					MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	p.R358Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1361	+			358					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.1073G>A	CCDS3541.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.35	2.209655	0.39003	0.0	1.16E-4	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.55234	0.53;0.53;0.53	2.81	-2.46	0.06461	.	.	.	.	.	T	0.31263	0.0791	N	0.24115	0.695	0.09310	N	1	B	0.23735	0.09	B	0.13407	0.009	T	0.16630	-1.0396	8	.	.	.	0.0857	7.5652	0.27874	0.4291:0.0:0.5709:0.0	.	358	Q8TAX7	MUC7_HUMAN	Q	358	ENSP00000407422:R358Q;ENSP00000400585:R358Q;ENSP00000302021:R358Q	.	R	+	2	0	MUC7	71382123	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.460000	0.06720	-0.542000	0.06249	-0.806000	0.03193	CGA		0.358	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		14	24	0	0	0	1	0	14	24					A	71347534	G	A	71347534	3	1	312	1	0	0	0	0	1	0	0	0	9981	1058	37	1	1079	1	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	61360217	71347534	119806742	13	31759											
FRAS1	80144	broad.mit.edu	37	chr4	79387412	79387412	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccacgccatggcaccatCgagcgaaccagcaatgggca	10	16	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	ENST00000264895.6	+	50	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2360					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						ATGGCACCATCGAGCGAACCA	0.547																																						ENST00000264895.6																			0				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						c.(7078-7080)atC>atT		Fraser syndrome 1							96	96	96					4																	79387412		2175	4275	6450	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79387412C>T	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.7080C>T	4.37:g.79387412C>T							p.I2360I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			50	7520	+			2359					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.7080C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	1.913	-0.450240	0.04572	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.53	-5.96	0.02234	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1798	0.54206	0.0:0.3761:0.0787:0.5452	.	.	.	.	X	589	.	.	R	+	1	2	FRAS1	79606436	0.000000	0.05858	0.732000	0.30844	0.161000	0.22273	-2.473000	0.00988	-1.252000	0.02491	-1.099000	0.02127	CGA		0.547	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	54	0	0	0	1	0	24	54					T	79387412	C	T	79387412	2	4	312	1	0	0	0	0	0	0	0	1	6042	874	31	1		1	FRAS1	4	79387412	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	8039878	79387412	111766864	14	31760											
SLC6A19	340024	broad.mit.edu	37	chr5	1217005	1217005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaacgcctccgaccccgCggcctacgcgcagctggtgt	13	17	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	ENST00000304460.10	+	8	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					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)	p.A373V(1)		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)			TCCGACCCCGCGGCCTACGCG	0.622																																						ENST00000304460.10																			1	Substitution - Missense(1)	p.A373V(1)	endometrium(1)	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						c.(1117-1119)gCg>gTg		solute carrier family 6 (neutral amino acid transporter), member 19							160	150	154					5																	1217005		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1217005C>T	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.1118C>T	5.37:g.1217005C>T	ENSP00000305302:p.Ala373Val						p.A373V	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1174	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		373					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1118C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.814043	0.32053	.	.	ENSG00000174358	ENST00000304460	T	0.74315	-0.83	4.85	-3.95	0.04118	.	1.876320	0.02993	N	0.147070	T	0.52901	0.1763	N	0.11756	0.17	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33007	-0.9885	10	0.30854	T	0.27	.	4.6241	0.12470	0.4192:0.3016:0.0:0.2792	.	373	Q695T7	S6A19_HUMAN	V	373	ENSP00000305302:A373V	ENSP00000305302:A373V	A	+	2	0	SLC6A19	1270005	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.432000	0.00235	-0.753000	0.04721	0.491000	0.48974	GCG		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		53	128	0	0	0	1	0	53	128					T	1217005	C	T	1217005	3	4	312	1	0	0	0	0	1	0	0	0	14682	768	27	1	1148	1	SLC6A19	5	1217005	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1217005	179698255	15	31761											
ADAMTS16	170690	broad.mit.edu	37	chr5	5222929	5222929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaaagccctgtggtgccatCgtattggaaggaaatgtgag	14	6	0	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	ENST00000274181.7	+	11	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	545	Disintegrin.				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						GTGGTGCCATCGTATTGGAAG	0.368																																						ENST00000274181.7																			0				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						c.(1633-1635)Cgt>Tgt		ADAM metallopeptidase with thrombospondin type 1 motif, 16							123	115	118					5																	5222929		1937	4138	6075	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5222929C>T	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.1633C>T	5.37:g.5222929C>T	ENSP00000274181:p.Arg545Cys					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C	p.R545C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			11	1771	+			545			Disintegrin.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1633C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799034	0.70567	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63580	0.05;-0.05	5.51	4.61	0.57282	.	0.067687	0.64402	D	0.000019	T	0.78648	0.4316	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.79108	0.886;0.992;0.97	T	0.79678	-0.1703	10	0.48119	T	0.1	.	12.5915	0.56445	0.2924:0.7076:0.0:0.0	.	545;545;545	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	545	ENSP00000274181:R545C;ENSP00000421631:R545C	ENSP00000274181:R545C	R	+	1	0	ADAMTS16	5275929	0.955000	0.32602	0.932000	0.37286	0.867000	0.49689	1.238000	0.32707	2.579000	0.87056	0.655000	0.94253	CGT		0.368	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		16	23	0	0	0	1	0	16	23					T	5222929	C	T	5222929	3	4	312	1	0	0	0	0	1	0	0	0	261	884	31	1	1675	1	ADAMTS16	5	5222929	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	4005924	5222929	175692331	16	31762											
PCDHA1	56147	broad.mit.edu	37	chr5	140166983	140166983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactcagcaccgtcatcGccctcatcaccgtgtctgac	6	19	5	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	ENST00000504120.2	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	370	Cadherin 4. {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)			CACCGTCATCGCCCTCATCAC	0.527																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1108-1110)Gcc>Acc									111	98	103					5																	140166983		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166983G>A	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.1108G>A	5.37:g.140166983G>A	ENSP00000420840:p.Ala370Thr					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T	p.A370T	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1108	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1108G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.993979	0.35131	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01804	4.63;4.63;4.63	4.06	3.18	0.36537	Cadherin (3);Cadherin-like (1);	0.000000	0.42682	U	0.000666	T	0.07548	0.0190	M	0.66939	2.045	0.25887	N	0.983528	D;D;D	0.69078	0.995;0.986;0.997	D;P;D	0.67231	0.95;0.586;0.914	T	0.02411	-1.1163	10	0.59425	D	0.04	.	12.1093	0.53830	0.0861:0.0:0.9139:0.0	.	370;370;370	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	T	370	ENSP00000420840:A370T;ENSP00000378129:A370T;ENSP00000367373:A370T	ENSP00000367373:A370T	A	+	1	0	PCDHA1	140147167	1.000000	0.71417	0.008000	0.14137	0.006000	0.05464	7.923000	0.87546	0.834000	0.34852	-0.263000	0.10527	GCC		0.527	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	46	0	0	0	1	0	14	46					A	140166983	G	A	140166983	3	1	312	1	0	0	0	0	1	0	0	0	11519	1087	38	1	1110	1	PCDHA1	5	140166983	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	134944054	140166983	40748277	17	31763											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348188	140348188	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagtcatagctatggactcaGactctgggcaaaatgcttgg	11	8	3	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140348188G>A	ENST00000289269.5	+	1	2369	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	613	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)			TATGGACTCAGACTCTGGGCA	0.512																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				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						c.(1837-1839)Gac>Aac									83	76	78					5																	140348188		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348188G>A	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.1837G>A	5.37:g.140348188G>A	ENSP00000289269:p.Asp613Asn					PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D613N	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2369	+			613			Cadherin 6.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1837G>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969156	0.74131	.	.	ENSG00000243232	ENST00000289269	T	0.74002	-0.8	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.000000	0.44285	D	0.000469	D	0.93012	0.7776	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95140	0.8263	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	613;613	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	N	613	ENSP00000289269:D613N	ENSP00000289269:D613N	D	+	1	0	PCDHAC2	140328372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GAC		0.512	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		3	32	0	0	0	1	0	3	32					A	140348188	G	A	140348188	3	1	312	1	0	0	0	0	1	0	0	0	11533	942	33	2	1839	2	PCDHAC2	5	140348188	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	181205	140348188	40567072	18	31764											
GABRA6	2559	broad.mit.edu	37	chr5	161113291	161113291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttctactcagaaaacGtcagtcggatcctggacaac	8	12	3	1	rs200373173	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	ENST00000274545.5	+	2	527	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V32I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			G|||	2	0.000399361	0.0	0.0014	5008	,	,		20902	0.0		0.0	False		,,,				2504	0.001					ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(94-96)Gtc>Atc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	G	ILE/VAL	0,4406		0,0,2203	109	110	110		94	1.2	0.4	5		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRA6	NM_000811.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	32/454	161113291	1,13005	2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113291G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.94G>A	5.37:g.161113291G>A	ENSP00000274545:p.Val32Ile	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.V32I|GABRA6_ENST00000522269.1_3'UTR	p.V32I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	336	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	32					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.94G>A	CCDS4356.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.653	-0.808800	0.02819	0.0	1.16E-4	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.77489	-1.1;-1.1	5.63	1.24	0.21308	Neurotransmitter-gated ion-channel ligand-binding (2);	0.149182	0.64402	N	0.000017	T	0.48589	0.1508	N	0.02802	-0.49	0.25661	N	0.986003	B	0.02656	0.0	B	0.04013	0.001	T	0.33777	-0.9855	10	0.15952	T	0.53	.	8.5345	0.33355	0.7172:0.0:0.2828:0.0	.	32	Q16445	GBRA6_HUMAN	I	32	ENSP00000274545:V32I;ENSP00000430527:V32I	ENSP00000274545:V32I	V	+	1	0	GABRA6	161045869	0.406000	0.25344	0.390000	0.26220	0.354000	0.29330	0.911000	0.28584	0.008000	0.14787	-0.290000	0.09829	GTC		0.488	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			26	35	0	0	0	1	0	26	35					A	161113291	G	A	161113291	3	1	312	1	0	0	0	0	1	0	0	0	6165	1145	40	1	100	1	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	20765103	161113291	19801969	19	31765											
OR2V2	285659	broad.mit.edu	37	chr5	180582042	180582042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttctccgtggttatgGcggtcttcacagtggccctc	10	14	4	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	ENST00000328275.1	+	1	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	34			A -> V (in dbSNP:rs17617270).			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)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(100-102)Gcg>Acg		olfactory receptor, family 2, subfamily V, member 2							250	206	221					5																	180582042		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582042G>A	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"GPCR / Class A : Olfactory receptors"	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.100G>A	5.37:g.180582042G>A	ENSP00000332185:p.Ala34Thr						p.A34T	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	100	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	34		A -> V (in dbSNP:rs17617270).			Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.100G>A	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.378498	0.01204	.	.	ENSG00000182613	ENST00000328275	T	0.00216	8.53	3.38	-1.95	0.07548	.	1.344130	0.05476	N	0.554022	T	0.00109	0.0003	N	0.11284	0.12	0.09310	N	1	B	0.23937	0.094	B	0.14023	0.01	T	0.03933	-1.0991	10	0.34782	T	0.22	.	5.0385	0.14447	0.5753:0.1855:0.2392:0.0	.	34	Q96R30	OR2V2_HUMAN	T	34	ENSP00000332185:A34T	ENSP00000332185:A34T	A	+	1	0	OR2V2	180514648	0.000000	0.05858	0.004000	0.12327	0.023000	0.10783	-2.550000	0.00929	-0.341000	0.08376	0.305000	0.20034	GCG		0.537	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			38	84	0	0	0	1	0	38	84					A	180582042	G	A	180582042	3	1	312	1	0	0	0	0	1	0	0	0	11031	1203	42	2	102	2	OR2V2	5	180582042	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	19468751	180582042	333218	20	31766											
SOX4	6659	broad.mit.edu	37	chr6	21594838	21594838	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctcggactcgggcgccGgcctcgagctgggaatcgcc	16	14	0	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:21594838G>T	ENST00000244745.1	+	1	867	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	SOX4_ENST00000543472.1_Missense_Mutation_p.G25C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	25					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTCGGGCGCCGGCCTCGAGCT	0.731																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(73-75)Ggc>Tgc		SRY (sex determining region Y)-box 4							9	11	10					6																	21594838		2174	4249	6423	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21594838G>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.73G>T	6.37:g.21594838G>T	ENSP00000244745:p.Gly25Cys					SOX4_ENST00000543472.1_Missense_Mutation_p.G25C	p.G25C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	867	+	Ovarian(93;0.163)		25						Missense_Mutation	SNP	ENST00000244745.1	37	c.73G>T	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091541	0.36952	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98028	-4.67;-4.67	5.12	2.95	0.34219	.	0.279938	0.29106	U	0.013124	D	0.91321	0.7263	L	0.34521	1.04	0.39716	D	0.971399	B	0.18610	0.029	B	0.18561	0.022	D	0.89024	0.3437	10	0.46703	T	0.11	.	9.9044	0.41366	0.088:0.0:0.7688:0.1432	.	25	Q06945	SOX4_HUMAN	C	25	ENSP00000244745:G25C;ENSP00000438412:G25C	ENSP00000244745:G25C	G	+	1	0	SOX4	21702817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.206000	0.77891	1.122000	0.41944	0.555000	0.69702	GGC		0.731	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	18	1	0	0.014758	1	0.0152192	4	18					T	21594838	G	T	21594838	3	4	312	1	0	0	0	0	1	0	0	0	14953	1116	39	4	75	4	SOX4	6	21594838	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		21594838	149520229	21	31767											
MICB	4277	broad.mit.edu	37	chr6	31473467	31473467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagggtttctcgctgaGggacatctggatggtcagcc	14	10	4	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	ENST00000252229.6	+	2	223	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E	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						TTCTCGCTGAGGGACATCTGG	0.557																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(142-144)gaG>gaA		MHC class I polypeptide-related sequence B							97	100	99					6																	31473467		1290	2566	3856	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31473467G>A		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.144G>A	6.37:g.31473467G>A						MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E	p.E48E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			2	223	+			48						Silent	SNP	ENST00000252229.6	37	c.144G>A	CCDS43449.1																																																																																				0.557	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		25	21	0	0	0	1	0	25	21					A	31473467	G	A	31473467	2	1	312	1	0	0	0	0	0	0	0	1	9575	991	35	2		2	MICB	6	31473467	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	9878629	31473467	139641600	22	31768											
SNAP91	9892	broad.mit.edu	37	chr6	84284808	84284808	+	Frame_Shift_Del	DEL	T	T	-													agttggctccaccagtcaacTttttctctccagcattccac							TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:84284808delT	ENST00000439399.2	-	26	2679	c.2363delA	c.(2362-2364)aagfs	p.K788fs	SNAP91_ENST00000428679.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.K758fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	788					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)		ACCAGTCAACTTTTTCTCTCC	0.453																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2362-2364)agfs		synaptosomal-associated protein, 91kDa							49	49	49					6																	84284808		1904	4113	6017	SO:0001589	frameshift_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84284808delT	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.2363delA	6.37:g.84284808delT	ENSP00000400459:p.Lys788fs					SNAP91_ENST00000195649.6_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.K758fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000520213.1_Frame_Shift_Del_p.K481fs	p.K788fs			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	26	2956	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	788					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Del	DEL	ENST00000439399.2	37	c.2363delA	CCDS47455.1																																																																																				0.453	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			2	4						2	4	---	---	---	---	-	84284808	T	-	84284808	7	5	312	1	0	1	0	1	0	0	0	0	14833	1609	56	0	376	0	SNAP91	6	84284808	Frame_Shift_Del	DEL	T	TCGA-HT-A4DS-01A-11D-A26M-08	52811341	84284808	86830259	23	31769											
PKD1L1	168507	broad.mit.edu	37	chr7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggggacgagactccccGtagggaggatctccactctc	13	12	2	2	rs367611487	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	ENST00000289672.2	-	50	7543	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron|PKD1L1_ENST00000462350.1_5'Flank	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2498					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						GAGACTCCCCGTAGGGAGGAT	0.582													G|||	3	0.000599042	0.0015	0.0	5008	,	,		20360	0.0		0.001	False		,,,				2504	0.0					ENST00000289672.2																		BBS9/PKD1L1(2)	0				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						c.(7492-7494)aCg>aTg		polycystic kidney disease 1 like 1		G	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	63	51	55		,7493	2.7	0	7		55	0,8600		0,0,4300	no	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging	,2498/2850	47851503	1,13005	2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47851503G>A	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.7493C>T	7.37:g.47851503G>A	ENSP00000289672:p.Thr2498Met					C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	p.T2498M	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			50	7543	-			2498					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.7493C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815722	0.32145	2.27E-4	0.0	ENSG00000158683	ENST00000289672	T	0.70986	-0.53	5.49	2.66	0.31614	Polycystin cation channel, PKD1/PKD2 (1);	1.531340	0.04372	N	0.359293	T	0.70666	0.3250	L	0.39147	1.195	0.09310	N	0.999998	D	0.63880	0.993	P	0.51355	0.667	T	0.53920	-0.8370	10	0.52906	T	0.07	-0.1852	6.2155	0.20653	0.1631:0.0:0.6866:0.1503	.	2498	Q8TDX9	PK1L1_HUMAN	M	2498	ENSP00000289672:T2498M	ENSP00000289672:T2498M	T	-	2	0	PKD1L1	47818028	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.492000	0.22435	0.261000	0.21753	0.453000	0.30009	ACG		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		7	22	0	0	0	1	0	7	22					A	47851503	G	A	47851503	3	1	312	1	0	0	0	0	1	0	0	0	11964	1145	40	1	1088	1	PKD1L1	7	47851503	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		47851503	111287160	24	31770											
RP1L1	94137	broad.mit.edu	37	chr8	10470654	10470654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccacggacaggctgccGtcctcattcatgcggacctt	9	15	3	0	rs200317816	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	318					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)		ACAGGCTGCCGTCCTCATTCA	0.662													G|||	39	0.00778754	0.0	0.0	5008	,	,		16661	0.0		0.0	False		,,,				2504	0.0399					ENST00000382483.3																			0				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						c.(952-954)gaC>gaT		retinitis pigmentosa 1-like 1		G		0,4274		0,0,2137	84	93	90		954	-10.9	0.2	8		90	3,8481		0,3,4239	no	coding-synonymous	RP1L1	NM_178857.5		0,3,6376	AA,AG,GG		0.0354,0.0,0.0235		318/2401	10470654	3,12755	2137	4242	6379	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470654G>A	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.954C>T	8.37:g.10470654G>A							p.D318D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1177	-			318					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.954C>T	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			51	49	0	0	0	1	0	51	49					A	10470654	G	A	10470654	2	1	312	1	0	0	0	0	0	0	0	1	13533	1136	40	1		1	RP1L1	8	10470654	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		10470654	135893368	25	31771											
SPRYD5	84767	broad.mit.edu	37	chr11	55653246	55653246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcctgctctgtttgccGtgctccaactctcaggagca	10	13	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:55653246G>A	ENST00000449290.2	+	2	434	c.342G>A	c.(340-342)ccG>ccA	p.P114P	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	114						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCTGTTTGCCGTGCTCCAACT	0.507																																						ENST00000449290.2																			0											c.(340-342)ccG>ccA		tripartite motif-containing 51							20	19	19					11																	55653246		692	1591	2283	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55653246G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.342G>A	11.37:g.55653246G>A							p.P114P	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	434	+			114					A6NMG2	Silent	SNP	ENST00000449290.2	37	c.342G>A																																																																																					0.507	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		9	11	0	0	0	1	0	9	11					A	55653246	G	A	55653246	2	1	312	1	0	0	0	0	0	0	0	1	15110	1132	40	1		1	SPRYD5	11	55653246	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		55653246	79353270	26	31772											
LRRC32	2615	broad.mit.edu	37	chr11	76371628	76371628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacagggaggtcaggtGctcaagaaagctgtcgggga	17	7	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	ENST00000407242.2	-	3	1251	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	337					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1009-1011)Cac>Aac		leucine rich repeat containing 32							32	34	33					11																	76371628		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371628G>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1009C>A	11.37:g.76371628G>T	ENSP00000384126:p.His337Asn					AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N|LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N	p.H337N	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1251	-			337					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1009C>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224396	0.09863	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.03717	3.83;3.83;3.83	4.26	3.32	0.38043	.	0.625238	0.17476	N	0.172900	T	0.01222	0.0040	N	0.00811	-1.165	0.09310	N	1	B	0.27791	0.189	B	0.28011	0.085	T	0.44847	-0.9301	10	0.29301	T	0.29	.	3.7584	0.08595	0.1345:0.0:0.4369:0.4286	.	337	Q14392	LRC32_HUMAN	N	337	ENSP00000260061:H337N;ENSP00000384126:H337N;ENSP00000385766:H337N	ENSP00000260061:H337N	H	-	1	0	LRRC32	76049276	0.006000	0.16342	0.069000	0.20011	0.973000	0.67179	1.807000	0.38902	0.974000	0.38366	0.484000	0.47621	CAC		0.587	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		9	17	1	0	0.00448238	1	0.00477157	9	17					T	76371628	G	T	76371628	3	4	312	1	0	0	0	0	1	0	0	0	8987	1319	46	4	983	4	LRRC32	11	76371628	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	20718382	76371628	58634888	27	31773											
LTA4H	4048	broad.mit.edu	37	chr12	96410892	96410892	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatatttcatgtgcaatgaCctaaagaaaacagtgtgatt	8	5	1	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	ENST00000228740.2	-	10	1018	c.877G>C	c.(877-879)Gtc>Ctc	p.V293L	LTA4H_ENST00000413268.2_Splice_Site_p.V269L|LTA4H_ENST00000552789.1_Splice_Site_p.V269L|LTA4H_ENST00000548375.1_5'Flank	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	293					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TGTGCAATGACCTAAAGAAAA	0.299																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.e10-1		leukotriene A4 hydrolase							117	120	119					12																	96410892		2203	4300	6503	SO:0001630	splice_region_variant	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96410892C>G	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.877-1G>C	12.37:g.96410892C>G						LTA4H_ENST00000552789.1_Splice_Site_p.V269_splice|LTA4H_ENST00000413268.2_Splice_Site_p.V269_splice	p.V293_splice	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			10	1018	-			293					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Splice_Site	SNP	ENST00000228740.2	37	c.876_splice	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796702	0.70567	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.04275	3.66;3.66;3.66	5.68	5.68	0.88126	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.58925	1.835	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.00305	-1.1831	10	0.32370	T	0.25	-21.9295	19.776	0.96393	0.0:1.0:0.0:0.0	.	269;269;293	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	L	293;269;269	ENSP00000228740:V293L;ENSP00000449958:V269L;ENSP00000395051:V269L	ENSP00000228740:V293L	V	-	1	0	LTA4H	94935023	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	7.818000	0.86416	2.662000	0.90505	0.579000	0.79373	GTC		0.299	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895	Missense_Mutation	27	20	0	0	0	1	0	27	20					G	96410892	C	G	96410892	5	3	312	1	0	0	0	0	0	0	1	0	9069	521	18	4	998	4	LTA4H	12	96410892	Splice_Site	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		96410892	37441003	28	31774											
TDG	6996	broad.mit.edu	37	chr12	104374741	104374741	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacctggaaaccatttttGtaagtggttaccttttaaat	8	6	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	ENST00000392872.3	+	4	712		c.e4+1		TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site|TDG_ENST00000544861.1_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.e4+1	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							96	93	94					12																	104374741		2203	4300	6503	SO:0001630	splice_region_variant	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104374741G>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.478+1G>T	12.37:g.104374741G>T						TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000544861.1_Splice_Site|TDG_ENST00000266775.9_Splice_Site		NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	4	712	+								Q8IUZ6|Q8IZM3	Splice_Site	SNP	ENST00000392872.3	37		CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160726	0.78226	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000544861;ENST00000537100	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.708	0.88314	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TDG	102898871	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.634000	0.98435	2.255000	0.74692	0.563000	0.77884	.		0.318	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		Intron	33	12	1	0	1.26612e-14	1	1.46603e-14	33	12					T	104374741	G	T	104374741	5	4	312	1	0	0	0	0	0	0	1	0	15722	1391	48	4	493	4	TDG	12	104374741	Splice_Site	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	7963849	104374741	29477154	29	31775											
PCNX	22990	broad.mit.edu	37	chr14	71444691	71444691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggggatgttcgacctaaatCttctagcgtaatccatcgga	10	9	2	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	ENST00000304743.2	+	6	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_ENST00000439984.3_Missense_Mutation_p.S546F|PCNX_ENST00000238570.5_Missense_Mutation_p.S546F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	546						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)		CGACCTAAATCTTCTAGCGTA	0.468																																						ENST00000304743.2																			0				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						c.(1636-1638)tCt>tTt		pecanex homolog (Drosophila)							108	110	109					14																	71444691		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444691C>T	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.1637C>T	14.37:g.71444691C>T	ENSP00000304192:p.Ser546Phe					PCNX_ENST00000238570.5_Missense_Mutation_p.S546F|PCNX_ENST00000439984.3_Missense_Mutation_p.S546F	p.S546F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	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)	6	2083	+			546					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1637C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102310	0.37145	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.12569	3.21;3.19;2.67	5.86	5.86	0.93980	.	0.067563	0.64402	D	0.000009	T	0.27900	0.0687	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	P;P;D	0.83275	0.853;0.853;0.996	T	0.02184	-1.1199	10	0.62326	D	0.03	.	20.1874	0.98223	0.0:1.0:0.0:0.0	.	546;546;546	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	F	546	ENSP00000304192:S546F;ENSP00000238570:S546F;ENSP00000396617:S546F	ENSP00000238570:S546F	S	+	2	0	PCNX	70514444	1.000000	0.71417	0.974000	0.42286	0.206000	0.24218	7.014000	0.76380	2.774000	0.95407	0.650000	0.86243	TCT		0.468	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		22	22	0	0	0	1	0	22	22					T	71444691	C	T	71444691	3	4	312	1	0	0	0	0	1	0	0	0	11591	913	32	2	1659	2	PCNX	14	71444691	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		71444691	35904849	30	31776											
C14orf4	64207	broad.mit.edu	37	chr14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG													ggctgcgctgttccaccgcaINSgcggcggcggcggcggcggc					rs61991619|rs371633333	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)gct>gcCGCt	p.163_163A>AA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				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)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCG	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.486_488dupCGC	14.37:g.77493654_77493656dupGCG	ENSP00000238647:p.Ala164dup						p.163_163G>AR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		3	5						3	5	---	---	---	---	GCG	77493648	-	GCG	77493647	7	5	312	1	0	1	1	0	0	0	0	0	1773	175	7	0	1905	0	C14orf4	14	77493647	In_Frame_Ins	INS	-	TCGA-HT-A4DS-01A-11D-A26M-08	6048956	77493647	29855893	31	31777											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474561	102474561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaggtgggtgcctgggGctgctttgacgagttcaacc	15	10	1	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	ENST00000360184.4	+	29	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1955	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						GGTGCCTGGGGCTGCTTTGAC	0.587																																						ENST00000360184.4																			0				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						c.(5863-5865)gGc>gTc		dynein, cytoplasmic 1, heavy chain 1							72	68	70					14																	102474561		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102474561G>T	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.5864G>T	14.37:g.102474561G>T	ENSP00000348965:p.Gly1955Val						p.G1955V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			29	6028	+			1955			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5864G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096906	0.94197	.	.	ENSG00000197102	ENST00000360184	T	0.35236	1.32	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73411	-0.3991	10	0.87932	D	0	.	19.3796	0.94527	0.0:0.0:1.0:0.0	.	1955	Q14204	DYHC1_HUMAN	V	1955	ENSP00000348965:G1955V	ENSP00000348965:G1955V	G	+	2	0	DYNC1H1	101544314	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.748000	0.98867	2.644000	0.89710	0.650000	0.86243	GGC		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		20	15	1	0	6.44725e-10	1	7.33653e-10	20	15					T	102474561	G	T	102474561	3	4	312	1	0	0	0	0	1	0	0	0	4841	1203	42	4	5978	4	DYNC1H1	14	102474561	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	24980914	102474561	4874979	32	31778											
OTUD7A	161725	broad.mit.edu	37	chr15	31776380	31776380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggcgaagatgaacttgCgctccccctgcatggcggcg	15	14	0	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	ENST00000307050.4	-	11	1990	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R640H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	633					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)		GATGAACTTGCGCTCCCCCTG	0.672																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1918-1920)cGc>cAc		OTU domain containing 7A							17	18	18					15																	31776380		2194	4289	6483	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776380C>T	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.1898G>A	15.37:g.31776380C>T	ENSP00000305926:p.Arg633His					OTUD7A_ENST00000307050.4_Missense_Mutation_p.R633H	p.R640H			Q8TE49	OTU7A_HUMAN		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)	11	2011	-		all_lung(180;1.6e-09)	633					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1919G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433375	0.83776	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.36520	1.25;1.25	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	L	0.46157	1.445	0.50467	D	0.999876	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.56926	-0.7898	10	0.54805	T	0.06	-21.4611	17.4668	0.87634	0.0:1.0:0.0:0.0	.	640;633	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	633;640	ENSP00000305926:R633H;ENSP00000372358:R640H	ENSP00000305926:R633H	R	-	2	0	OTUD7A	29563672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.346000	0.65992	2.082000	0.62665	0.561000	0.74099	CGC		0.672	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		5	11	0	0	0	1	0	5	11					T	31776380	C	T	31776380	3	4	312	1	0	0	0	0	1	0	0	0	11318	768	27	1	886	1	OTUD7A	15	31776380	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		31776380	70755012	33	31779											
HIRIP3	8479	broad.mit.edu	37	chr16	30006466	30006466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttctctccgggtcgcTacaaggggtgggaggcctct	13	12	2	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:30006466T>C	ENST00000279392.3	-	3	1089	c.259A>G	c.(259-261)Agc>Ggc	p.S87G	HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G|HIRIP3_ENST00000566471.1_Intron|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567705.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	87					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCGGGTCGCTACAAGGGGTG	0.552																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(259-261)Agc>Ggc		HIRA interacting protein 3							173	159	163					16																	30006466		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006466T>C	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.259A>G	16.37:g.30006466T>C	ENSP00000279392:p.Ser87Gly					HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G	p.S87G	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			3	1089	-			87					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.259A>G	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226000	0.39300	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.39406	1.08	5.14	2.88	0.33553	.	0.363457	0.24276	N	0.039956	T	0.29945	0.0749	L	0.50333	1.59	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.12837	0.002;0.008	T	0.25293	-1.0136	10	0.13108	T	0.6	-3.9248	5.3931	0.16255	0.0:0.0952:0.1938:0.7111	.	87;87	B2R6A9;Q9BW71	.;HIRP3_HUMAN	G	87	ENSP00000279392:S87G	ENSP00000279392:S87G	S	-	1	0	HIRIP3	29913967	0.022000	0.18835	0.607000	0.28956	0.304000	0.27724	0.484000	0.22308	0.390000	0.25115	0.482000	0.46254	AGC		0.552	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		9	109	0	0	0	1	0	9	109					C	30006466	T	C	30006466	3	2	312	1	0	0	0	0	1	0	0	0	7121	1522	53	3	1431	3	HIRIP3	16	30006466	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		30006466	60348287	34	31780											
SPNS3	201305	broad.mit.edu	37	chr17	4356345	4356345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgaccatcatgaccggcGtcattggggtcatcttgggg	13	11	4	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	ENST00000355530.2	+	8	1238	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	320					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.V320I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572																																						ENST00000355530.2																			1	Substitution - Missense(1)	p.V320I(1)	skin(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(958-960)Gtc>Atc		spinster homolog 3 (Drosophila)							93	87	89					17																	4356345		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4356345G>A		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.958G>A	17.37:g.4356345G>A	ENSP00000347721:p.Val320Ile					SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I	p.V320I	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			8	1238	+			320					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.958G>A	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.295849	0.01375	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.57595	0.39;0.39	4.67	2.42	0.29668	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261743	0.37012	N	0.002293	T	0.15998	0.0385	N	0.01197	-0.965	0.23056	N	0.99836	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.31888	-0.9927	10	0.02654	T	1	-6.7771	3.9682	0.09441	0.6205:0.1826:0.1968:0.0	.	193;320	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	I	320;193	ENSP00000347721:V320I;ENSP00000333207:V193I	ENSP00000333207:V193I	V	+	1	0	SPNS3	4303094	0.027000	0.19231	0.950000	0.38849	0.421000	0.31385	-0.001000	0.12947	0.267000	0.21916	-0.430000	0.05897	GTC		0.572	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		36	18	0	0	0	1	0	36	18					A	4356345	G	A	4356345	3	1	312	1	0	0	0	0	1	0	0	0	15075	1145	40	1	988	1	SPNS3	17	4356345	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		4356345	76838865	35	31781											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	3	0	0	0	1	0	5	3					T	7577120	C	T	7577120	3	4	312	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	3220775	7577120	73618090	36	31782											
NF1	4763	broad.mit.edu	37	chr17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-													tacatcaattgggaagataaCtctgtcattttcctacttgt							TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.S340fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S340fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.S340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					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.?(6)	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)		GGGAAGATAACTCTGTCATTTT	0.381			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	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	GRCh37	CI032771|CI064710	NF1	I		c.(1015-1020)aactfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527568_29527569delCT		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.1017_1018delCT	17.37:g.29527570_29527571delCT	ENSP00000351015:p.Ser340fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Del_p.NS339fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.NS339fs	p.NS339fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	9	1400_1401	+		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)	339					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1017_1018delCT	CCDS42292.1																																																																																				0.381	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		17	8						17	8	---	---	---	---	-	29527569	CT	-	29527568	7	5	312	1	0	1	0	1	0	0	0	0	10356	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-HT-A4DS-01A-11D-A26M-08	21950448	29527568	51667642	37	31783											
LRRC59	55379	broad.mit.edu	37	chr17	48465454	48465454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgccgctgcctctcccGctcctgatctgcctgcacgg	10	20	2	1	rs140038553	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	ENST00000225972.7	-	5	704	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	Y_RNA_ENST00000384097.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	157						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527																																						ENST00000225972.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(469-471)Cgg>Tgg		leucine rich repeat containing 59		G	TRP/ARG	0,4406		0,0,2203	155	139	145		469	5.1	1	17	dbSNP_134	145	4,8596	3.0+/-9.4	0,4,4296	yes	missense	LRRC59	NM_018509.3	101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	157/308	48465454	4,13002	2203	4300	6503	SO:0001583	missense	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48465454G>A	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.469C>T	17.37:g.48465454G>A	ENSP00000225972:p.Arg157Trp						p.R157W	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		5	704	-	Breast(11;5.62e-19)		157					B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	c.469C>T	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155213	0.78114	0.0	4.65E-4	ENSG00000108829	ENST00000225972	T	0.26518	1.73	6.08	5.1	0.69264	.	0.174966	0.51477	D	0.000099	T	0.31327	0.0793	L	0.45137	1.4	0.80722	D	1	D	0.69078	0.997	P	0.47470	0.548	T	0.09885	-1.0654	10	0.87932	D	0	.	16.7724	0.85542	0.0:0.0:0.8698:0.1302	.	157	Q96AG4	LRC59_HUMAN	W	157	ENSP00000225972:R157W	ENSP00000225972:R157W	R	-	1	2	LRRC59	45820453	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	3.883000	0.56168	1.567000	0.49668	-0.181000	0.13052	CGG		0.527	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		76	42	0	0	0	1	0	76	42					A	48465454	G	A	48465454	3	1	312	1	0	0	0	0	1	0	0	0	9015	1086	38	1	466	1	LRRC59	17	48465454	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18937886	48465454	32729756	38	31784											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260408	44260408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggcaggcagcagcaccGacgcgttctcgtacacctgc	12	14	1	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	ENST00000315087.7	-	7	1388	c.728C>T	c.(727-729)tCg>tTg	p.S243L	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	243					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(727-729)tCg>tTg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							71	41	51					18																	44260408		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260408G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.728C>T	18.37:g.44260408G>A	ENSP00000321343:p.Ser243Leu					ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L	p.S243L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1388	-			243					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.728C>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162999	0.57476	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.23754	1.89;1.89;1.89	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	N	0.11284	0.12	0.80722	D	1	D;B;D	0.89917	1.0;0.229;1.0	D;B;D	0.97110	0.996;0.059;1.0	T	0.15723	-1.0427	10	0.11485	T	0.65	-2.8521	19.0155	0.92892	0.0:0.0:1.0:0.0	.	212;279;243	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	L	243;279;212	ENSP00000321343:S243L;ENSP00000445492:S279L;ENSP00000443683:S212L	ENSP00000321343:S243L	S	-	2	0	ST8SIA5	42514406	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	8.027000	0.88791	2.482000	0.83794	0.561000	0.74099	TCG		0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		4	5	0	0	0	1	0	4	5					A	44260408	G	A	44260408	3	1	312	1	0	0	0	0	1	0	0	0	15234	1059	37	1	406	1	ST8SIA5	18	44260408	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		44260408	33816840	39	31785											
GRIN3B	116444	broad.mit.edu	37	chr19	1004802	1004802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgcccgtgatccagaCgaagacgggcagtgcccagc	14	12	0	3	rs139557341		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:1004802C>T	ENST00000234389.3	+	3	1321	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	434					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGATCCAGACGAAGACGGGC	0.677																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1300-1302)gaC>gaT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	C		1,4405	2.1+/-5.4	0,1,2202	53	52	52		1302	-5.2	0.5	19	dbSNP_134	52	5,8589	3.7+/-12.6	0,5,4292	no	coding-synonymous	GRIN3B	NM_138690.1		0,6,6494	TT,TC,CC		0.0582,0.0227,0.0462		434/1044	1004802	6,12994	2203	4297	6500	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004802C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1302C>T	19.37:g.1004802C>T						GRIN3B_ENST00000588335.1_3'UTR	p.D434D	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		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)	3	1321	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	434					Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1302C>T	CCDS32861.1																																																																																				0.677	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	73	0	0	0	1	0	4	73					T	1004802	C	T	1004802	2	4	312	1	0	0	0	0	0	0	0	1	6784	535	19	1		1	GRIN3B	19	1004802	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1004802	58124181	40	31786											
BEST2	54831	broad.mit.edu	37	chr19	12866569	12866569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagttcttcttctacgcCggctggctcaaggtaggtgg	13	10	4	0	rs200165904	byFrequency	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	ENST00000549706.1	+	7	1179	c.855C>T	c.(853-855)gcC>gcT	p.A285A	BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582													C|||	10	0.00199681	0.0076	0.0	5008	,	,		16222	0.0		0.0	False		,,,				2504	0.0					ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(853-855)gcC>gcT		bestrophin 2		C		8,4104		0,8,2048	79	83	81		855	-8.7	0	19		81	0,8430		0,0,4215	no	coding-synonymous	BEST2	NM_017682.2		0,8,6263	TT,TC,CC		0.0,0.1946,0.0638		285/510	12866569	8,12534	2056	4215	6271	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12866569C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.855C>T	19.37:g.12866569C>T						BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A	p.A285A			Q8NFU1	BEST2_HUMAN			7	1179	+			285					Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.855C>T	CCDS42506.1																																																																																				0.582	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		3	30	0	0	0	1	0	3	30					T	12866569	C	T	12866569	2	4	312	1	0	0	0	0	0	0	0	1	1405	639	23	1		1	BEST2	19	12866569	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	11861767	12866569	46262414	41	31787											
ZNF536	9745	broad.mit.edu	37	chr19	31040264	31040264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcccaggaccccttggcGggcctgccaaagccggagcg	14	16	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					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)	p.A1246A(1)		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)					ACCCCTTGGCGGGCCTGCCAA	0.632																																						ENST00000355537.3																			1	Substitution - coding silent(1)	p.A1246A(1)	endometrium(1)	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						c.(3736-3738)gcG>gcA		zinc finger protein 536							18	20	19					19																	31040264		2199	4291	6490	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040264G>A		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.3738G>A	19.37:g.31040264G>A							p.A1246A	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3885	+	Esophageal squamous(110;0.0834)		1246					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3738G>A	CCDS32984.1																																																																																				0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		12	15	0	0	0	1	0	12	15					A	31040264	G	A	31040264	2	1	312	1	0	0	0	0	0	0	0	1	17971	1103	39	1		1	ZNF536	19	31040264	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18173695	31040264	28088719	42	31788											
DENND2C	163259	broad.mit.edu	37	chr1	115151483	115151483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgcagttgtgctaagcGtttatggcgatctgtaatga	13	6	1	1	rs561912187		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:115151483G>A	ENST00000393274.1	-	10	2006	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C|DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	461					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)		TGTGCTAAGCGTTTATGGCGA	0.438																																						ENST00000393274.1																			0				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						c.(1381-1383)Cgc>Tgc		DENN/MADD domain containing 2C							132	112	119					1																	115151483		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115151483G>A		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.1381C>T	1.37:g.115151483G>A	ENSP00000376955:p.Arg461Cys					DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C	p.R461C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		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)	10	2006	-	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)	461					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1381C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660918	0.67700	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.16324	3.5;3.08;2.35	5.3	4.35	0.52113	.	0.246713	0.39687	N	0.001289	T	0.28699	0.0711	M	0.79011	2.435	0.58432	D	0.999994	B;D	0.89917	0.368;1.0	B;D	0.85130	0.035;0.997	T	0.03335	-1.1047	10	0.66056	D	0.02	.	6.9252	0.24412	0.0711:0.1266:0.6712:0.1311	.	461;404	Q68D51;Q68D51-3	DEN2C_HUMAN;.	C	404;461;461;461	ENSP00000376957:R404C;ENSP00000376955:R461C;ENSP00000376958:R461C	ENSP00000358553:R461C	R	-	1	0	DENND2C	114953006	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.145000	0.50623	2.486000	0.83907	0.591000	0.81541	CGC		0.438	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		7	21	0	0	0	1	0	7	21					A	115151483	G	A	115151483	3	1	313	1	0	0	0	0	1	0	0	0	4430	1145	40	1	1453	1	DENND2C	1	115151483	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		115151483	134099138	1	31789											
APOBEC4	403314	broad.mit.edu	37	chr1	183617594	183617594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcattattgtatatgGctgagtcaagataaccattc	8	7	2	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:183617594G>A	ENST00000308641.4	-	2	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	108					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						ATTGTATATGGCTGAGTCAAG	0.408																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(322-324)gCc>gTc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)							158	155	156					1																	183617594		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617594G>A	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.323C>T	1.37:g.183617594G>A	ENSP00000310622:p.Ala108Val					RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron	p.A108V	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	594	-			108					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.323C>T	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	0.966	-0.701619	0.03255	.	.	ENSG00000173627	ENST00000308641	T	0.63913	-0.07	5.28	2.61	0.31194	APOBEC-like, N-terminal (1);	0.555606	0.15624	N	0.252745	T	0.30759	0.0775	N	0.04880	-0.145	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.30238	-0.9985	10	0.02654	T	1	-18.2894	5.028	0.14395	0.6119:0.0:0.3881:0.0	.	108	Q8WW27	ABEC4_HUMAN	V	108	ENSP00000310622:A108V	ENSP00000310622:A108V	A	-	2	0	APOBEC4	181884217	0.011000	0.17503	0.007000	0.13788	0.321000	0.28281	2.018000	0.40991	0.887000	0.36136	0.655000	0.94253	GCC		0.408	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		7	50	0	0	0	1	0	7	50					A	183617594	G	A	183617594	3	1	313	1	0	0	0	0	1	0	0	0	796	1203	42	2	784	2	APOBEC4	1	183617594	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	68466111	183617594	65633027	2	31790											
ANKRD23	200539	broad.mit.edu	37	chr2	97506180	97506180	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgtccactgtggcaccTgccaccagcagcttgttcac	10	17	1	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:97506180T>A	ENST00000318357.4	-	5	539	c.498A>T	c.(496-498)gcA>gcT	p.A166A	ANKRD23_ENST00000331001.2_Silent_p.A124A|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	166					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGTGGCACCTGCCACCAGCA	0.622																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(496-498)gcA>gcT		ankyrin repeat domain 23							36	33	34					2																	97506180		2203	4300	6503	SO:0001819	synonymous_variant	200539					nucleus		g.chr2:97506180T>A		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.498A>T	2.37:g.97506180T>A						ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000331001.2_Silent_p.A124A	p.A166A	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			5	539	-			166					Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	c.498A>T	CCDS2027.1																																																																																				0.622	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		6	20	0	0	0	1	0	6	20					A	97506180	T	A	97506180	2	1	313	1	0	0	0	0	0	0	0	1	652	1567	55	5		5	ANKRD23	2	97506180	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		97506180	145693193	3	31791											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204403	125204403	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggatgaccagcactgGcactcggtcctcattgagcg	11	14	1	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:125204403G>A	ENST00000431078.1	+	6	1171	c.807G>A	c.(805-807)tgG>tgA	p.W269*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	269	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		ACCAGCACTGGCACTCGGTCC	0.612																																						ENST00000431078.1																			0				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						c.(805-807)tgG>tgA		contactin associated protein-like 5							72	77	76					2																	125204403		2165	4283	6448	SO:0001587	stop_gained	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204403G>A	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.807G>A	2.37:g.125204403G>A	ENSP00000399013:p.Trp269*						p.W269*	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1171	+			269			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	c.807G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	41	8.896451	0.98994	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.87	5.87	0.94306	.	0.000000	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	.	.	.	X	269	.	ENSP00000399013:W269X	W	+	3	0	CNTNAP5	124920873	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.670000	0.98625	2.941000	0.99782	0.655000	0.94253	TGG		0.612	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	38	0	0	0	1	0	3	38					A	125204403	G	A	125204403	4	1	313	1	0	0	0	0	0	1	0	0	3650	1212	42	2	829	2	CNTNAP5	2	125204403	Nonsense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	27698223	125204403	117994970	4	31792											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	23	0	0	0	1	0	5	23					T	209113112	C	T	209113112	3	4	313	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	83908709	209113112	34086261	5	31793											
HDLBP	3069	broad.mit.edu	37	chr2	242176036	242176036	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatggacacatacctccagAgcttccttggcagcctcaca	7	15	1	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:242176036A>C	ENST00000391975.1	-	21	3125	c.2898T>G	c.(2896-2898)gcT>gcG	p.A966A	HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	966	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATACCTCCAGAGCTTCCTTGG	0.612																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2896-2898)gcT>gcG		high density lipoprotein binding protein							131	122	125					2																	242176036		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242176036A>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2898T>G	2.37:g.242176036A>C						HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A	p.A966A	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	21	3125	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	966			KH 11.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.2898T>G	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	A	9.309	1.055190	0.19907	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.53	-1.5	0.08691	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	4	.	.	.	-39.1124	1.646	0.02762	0.428:0.1021:0.2636:0.2063	.	.	.	.	A	775	.	.	S	-	1	0	HDLBP	241824709	0.001000	0.12720	0.916000	0.36221	0.811000	0.45836	-1.639000	0.02011	-0.176000	0.10707	-0.146000	0.13790	TCT		0.612	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		17	77	0	0	0	1	0	17	77					C	242176036	A	C	242176036	2	2	313	1	0	0	0	0	0	0	0	1	7025	291	11	5		5	HDLBP	2	242176036	Silent	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08	33062924	242176036	1023337	6	31794											
HSPA4L	22824	broad.mit.edu	37	chr4	128753891	128753891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcccaaaccaaaagcagaAgttcctgaagacaaaccaaa	6	11	0	3			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr4:128753891A>C	ENST00000296464.4	+	19	2793	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D	HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	794					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAAAAGCAGAAGTTCCTGAAG	0.368																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2380-2382)gaA>gaC		heat shock 70kDa protein 4-like							122	118	120					4																	128753891		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128753891A>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2382A>C	4.37:g.128753891A>C	ENSP00000296464:p.Glu794Asp					HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D	p.E794D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			19	2793	+			794					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.2382A>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359776	0.24598	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.85	-0.876	0.10624	.	0.051924	0.85682	D	0.000000	T	0.19765	0.0475	L	0.48986	1.54	0.40979	D	0.984767	B;D	0.64830	0.131;0.994	B;D	0.70716	0.082;0.97	T	0.19451	-1.0305	10	0.36615	T	0.2	.	1.8994	0.03264	0.4564:0.1225:0.285:0.1361	.	768;794	E9PDE8;O95757	.;HS74L_HUMAN	D	794;825;794;768	ENSP00000422482:E794D;ENSP00000393926:E825D;ENSP00000296464:E794D;ENSP00000425645:E768D	ENSP00000296464:E794D	E	+	3	2	HSPA4L	128973341	0.993000	0.37304	0.986000	0.45419	0.814000	0.46013	0.761000	0.26489	-0.090000	0.12462	-0.321000	0.08615	GAA		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		7	30	0	0	0	1	0	7	30					C	128753891	A	C	128753891	3	2	313	1	0	0	0	0	1	0	0	0	7413	69	3	5	2456	5	HSPA4L	4	128753891	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		128753891	62400385	7	31795											
MYOZ3	91977	broad.mit.edu	37	chr5	150050053	150050053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcctggcagtccctacGctggacctgggcaagaagct	11	14	0	1	rs551250073		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr5:150050053G>A	ENST00000297130.4	+	3	268	c.69G>A	c.(67-69)acG>acA	p.T23T	MYOZ3_ENST00000517768.1_Silent_p.T23T|MYOZ3_ENST00000520112.1_5'Flank|CTC-345K18.2_ENST00000511626.2_RNA	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCCCTACGCTGGACCTGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		17640	0.0		0.001	False		,,,				2504	0.0					ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(67-69)acG>acA		myozenin 3							44	36	39					5																	150050053		2203	4300	6503	SO:0001819	synonymous_variant	91977					sarcomere	protein binding	g.chr5:150050053G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.69G>A	5.37:g.150050053G>A						MYOZ3_ENST00000517768.1_Silent_p.T23T	p.T23T	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	268	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	23						Silent	SNP	ENST00000297130.4	37	c.69G>A	CCDS4309.1																																																																																				0.602	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		3	31	0	0	0	1	0	3	31					A	150050053	G	A	150050053	2	1	313	1	0	0	0	0	0	0	0	1	10097	1074	38	1		1	MYOZ3	5	150050053	Silent	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		150050053	30865207	8	31796											
SYNE1	23345	broad.mit.edu	37	chr6	152730807	152730807	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgatttcaggttctgatattCtctcattaagtcaataagtc	6	7	5	2	rs374482089		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr6:152730807C>G	ENST00000367255.5	-	43	6869	c.6268G>C	c.(6268-6270)Gaa>Caa	p.E2090Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q|RNA5SP223_ENST00000365174.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2090					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)		TTCTGATATTCTCTCATTAAG	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(6268-6270)Gaa>Caa		spectrin repeat containing, nuclear envelope 1		C	GLN/GLU,GLN/GLU	0,4406		0,0,2203	98	96	96		6268,6289	5.9	1	6		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_182961.3,NM_033071.3	29,29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	2090/8798,2097/8750	152730807	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152730807C>G	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.6268G>C	6.37:g.152730807C>G	ENSP00000356224:p.Glu2090Gln	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q	p.E2090Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	43	6869	-		Ovarian(120;0.0955)	2090					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6268G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658164	0.47467	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.92	5.92	0.95590	.	0.192526	0.36134	N	0.002765	T	0.18841	0.0452	L	0.59436	1.845	0.80722	D	1	P;B;B;B	0.38250	0.624;0.011;0.023;0.019	B;B;B;B	0.39706	0.307;0.005;0.008;0.011	T	0.02244	-1.1189	10	0.12430	T	0.62	.	14.4744	0.67537	0.0:0.9305:0.0:0.0695	.	2073;2090;2090;2097	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2090;2097;2090;2097;2127	ENSP00000356224:E2090Q;ENSP00000396024:E2097Q;ENSP00000265368:E2090Q;ENSP00000390975:E2097Q;ENSP00000341887:E2127Q	ENSP00000265368:E2090Q	E	-	1	0	SYNE1	152772500	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.922000	0.63404	2.822000	0.97130	0.650000	0.86243	GAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	24	0	0	0	1	0	5	24					G	152730807	C	G	152730807	3	3	313	1	0	0	0	0	1	0	0	0	15442	922	32	4	20614	4	SYNE1	6	152730807	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		152730807	18384260	9	31797											
C7orf34	3792	broad.mit.edu	37	chr7	142636704	142636704	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcggccaaaggcagTgggtgggcaggtccatgcct	19	10	0	0	rs11977017	byFrequency	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:142636704T>C	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.W21R	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAAAGGCAGTGGGTGGGCAG	0.642													C|||	978	0.195288	0.59	0.0922	5008	,	,		18298	0.0377		0.0885	False		,,,				2504	0.0072					ENST00000409607.3																			0				large_intestine(1)|lung(4)	5						c.(61-63)Tgg>Cgg		chromosome 7 open reading frame 34		C	ARG/TRP	2275,2131	593.3+/-388.0	599,1077,527	43	46	45		61	-7.9	0	7	dbSNP_120	45	681,7919	168.6+/-220.1	25,631,3644	yes	missense	C7orf34	NM_178829.4	101	624,1708,4171	CC,CT,TT		7.9186,48.3659,22.728		21/148	142636704	2956,10050	2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142636704T>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636704T>C							p.W21R	NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN			1	102	+	Melanoma(164;0.059)		0					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.61T>C	CCDS34766.1	371	0.16987179487179488	260	0.5284552845528455	33	0.09116022099447514	17	0.02972027972027972	61	0.08047493403693931	t	0.012	-1.682788	0.00745	0.516341	0.079186	ENSG00000165131	ENST00000409607	.	.	.	3.97	-7.94	0.01152	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.40794	-0.9544	4	0.06625	T	0.88	.	1.3385	0.02150	0.2249:0.369:0.2241:0.182	rs11977017	.	.	.	R	21	.	ENSP00000386450:W21R	W	+	1	0	C7orf34	142346826	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.171000	0.00281	-2.282000	0.00673	-1.847000	0.00572	TGG		0.642	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		3	38	0	0	0	1	0	3	38					C	142636704	T	C	142636704	1	2	313	0	1	0	0	0	0	0	0	0	2389	1696	59	3		3	C7orf34	7	142636704	IGR	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		142636704	16501959	10	31798											
SLC4A2	6522	broad.mit.edu	37	chr7	150761619	150761619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccctgcagaccaccGccagtcctcccaccacatcc	4	24	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:150761619G>A	ENST00000485713.1	+	4	1264	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	75	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGACCACCGCCAGTCCTCC	0.682																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(223-225)cGc>cAc		solute carrier family 4 (anion exchanger), member 2							69	78	75					7																	150761619		2202	4298	6500	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761619G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.224G>A	7.37:g.150761619G>A	ENSP00000419412:p.Arg75His					SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H	p.R75H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	1264	+			75			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.224G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961773	0.74016	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000392826;ENST00000461735	T;T;T;T;T;T;T;T	0.80566	-0.43;-1.39;-1.39;0.0;-0.33;-0.45;-1.39;-1.37	4.64	4.64	0.57946	.	0.073483	0.64402	D	0.000010	D	0.88437	0.6436	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.987	D	0.89738	0.3931	10	0.87932	D	0	.	15.0575	0.71925	0.0:0.0:1.0:0.0	.	66;61;75	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	H	75;75;75;75;75;75;66;61	ENSP00000417808:R75H;ENSP00000419412:R75H;ENSP00000405600:R75H;ENSP00000418114:R75H;ENSP00000419379:R75H;ENSP00000418584:R75H;ENSP00000376571:R66H;ENSP00000419164:R61H	ENSP00000376571:R66H	R	+	2	0	SLC4A2	150392552	1.000000	0.71417	0.984000	0.44739	0.978000	0.69477	9.726000	0.98782	2.409000	0.81822	0.460000	0.39030	CGC		0.682	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		4	74	0	0	0	1	0	4	74					A	150761619	G	A	150761619	3	1	313	1	0	0	0	0	1	0	0	0	14654	1087	38	1	234	1	SLC4A2	7	150761619	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	8124915	150761619	8377044	11	31799											
HTRA4	203100	broad.mit.edu	37	chr8	38839229	38839229	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggaatctcctttgcaAttccttcagatcgagttagg	9	9	2	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr8:38839229A>C	ENST00000302495.4	+	6	1157	c.1057A>C	c.(1057-1059)Att>Ctt	p.I353L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	353	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCCTTTGCAATTCCTTCAGA	0.428																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(1057-1059)Att>Ctt		HtrA serine peptidase 4							195	159	171					8																	38839229		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38839229A>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1057A>C	8.37:g.38839229A>C	ENSP00000305919:p.Ile353Leu						p.I353L	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		6	1157	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	353			Serine protease.		Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.1057A>C	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397209	0.42512	.	.	ENSG00000169495	ENST00000302495	D	0.89552	-2.53	5.3	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000001	D	0.86772	0.6013	L	0.58510	1.815	0.51233	D	0.999916	P	0.39157	0.662	B	0.39971	0.315	D	0.85578	0.1238	10	0.87932	D	0	-23.9038	10.3303	0.43818	0.9209:0.0:0.0791:0.0	.	353	P83105	HTRA4_HUMAN	L	353	ENSP00000305919:I353L	ENSP00000305919:I353L	I	+	1	0	HTRA4	38958386	1.000000	0.71417	0.599000	0.28851	0.186000	0.23388	5.897000	0.69831	0.854000	0.35336	-0.411000	0.06167	ATT		0.428	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		6	39	0	0	0	1	0	6	39					C	38839229	A	C	38839229	3	2	313	1	0	0	0	0	1	0	0	0	7456	101	4	5	1079	5	HTRA4	8	38839229	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		38839229	107524793	12	31800											
SARDH	1757	broad.mit.edu	37	chr9	136578200	136578200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaagaaccctcggagCtcaggtgcctcccccatcag	10	17	2	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr9:136578200C>T	ENST00000371872.4	-	9	1454	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	399					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)		ACCCTCGGAGCTCAGGTGCCT	0.612																																						ENST00000371872.4																			0				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						c.(1195-1197)gaG>gaA		sarcosine dehydrogenase							44	45	45					9																	136578200		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136578200C>T		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.1197G>A	9.37:g.136578200C>T						SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	9	1454	-			399					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1197G>A	CCDS6978.1																																																																																				0.612	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			3	16	0	0	0	1	0	3	16					T	136578200	C	T	136578200	2	4	313	1	0	0	0	0	0	0	0	1	13841	796	28	2		2	SARDH	9	136578200	Silent	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		136578200	4635231	13	31801											
RAD52	5893	broad.mit.edu	37	chr12	1023236	1023236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagggcttgaccacaccaTcccctgcatcgggagtcaca	10	15	1	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:1023236T>G	ENST00000358495.3	-	11	1157	c.1019A>C	c.(1018-1020)gAt>gCt	p.D340A	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.D263A|RAD52_ENST00000430095.2_Missense_Mutation_p.D340A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	340					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GACCACACCATCCCCTGCATC	0.507								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1018-1020)gAt>gCt	Homologous recombination	RAD52 homolog (S. cerevisiae)							110	103	105					12																	1023236		1953	4141	6094	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023236T>G		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"RAD52 (S. cerevisiae) homolog"			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1019A>C	12.37:g.1023236T>G	ENSP00000351284:p.Asp340Ala					RAD52_ENST00000430095.2_Missense_Mutation_p.D340A|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.D263A	p.D340A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1157	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		340					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.1019A>C	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456534	0.63401	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.41400	1.41;1.41;1.0	4.87	4.87	0.63330	.	0.186181	0.56097	D	0.000034	T	0.55955	0.1953	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	P	0.57152	0.814	T	0.58267	-0.7666	10	0.45353	T	0.12	-0.2091	11.0329	0.47783	0.0:0.0:0.0:1.0	.	340	P43351	RAD52_HUMAN	A	340;340;263	ENSP00000351284:D340A;ENSP00000387901:D340A;ENSP00000445245:D263A	ENSP00000351284:D340A	D	-	2	0	RAD52	893497	0.424000	0.25490	0.080000	0.20451	0.005000	0.04900	2.354000	0.44098	2.181000	0.69327	0.459000	0.35465	GAT		0.507	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		3	40	0	0	0	1	0	3	40					G	1023236	T	G	1023236	3	3	313	1	0	0	0	0	1	0	0	0	12991	1435	50	5	245	5	RAD52	12	1023236	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		1023236	132828659	14	31802											
FICD	11153	broad.mit.edu	37	chr12	108912361	108912361	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcatccaggcggactacttGtacaccagagcattgaccat	8	12	1	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:108912361G>C	ENST00000552695.1	+	3	721	c.486G>C	c.(484-486)ttG>ttC	p.L162F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	162					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGGACTACTTGTACACCAGAG	0.537																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(484-486)ttG>ttC		FIC domain containing							148	114	125					12																	108912361		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912361G>C	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)"					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.486G>C	12.37:g.108912361G>C	ENSP00000446479:p.Leu162Phe					FICD_ENST00000361549.2_3'UTR	p.L162F	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	721	+			162					O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.486G>C	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614861	0.28712	.	.	ENSG00000198855	ENST00000552695	T	0.77229	-1.08	5.62	-2.26	0.06867	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	T	0.63931	0.2553	L	0.50333	1.59	0.80722	D	1	P	0.36249	0.545	B	0.36335	0.222	T	0.50423	-0.8830	10	0.28530	T	0.3	-16.5889	5.9402	0.19189	0.3732:0.2173:0.4095:0.0	.	162	Q9BVA6	FICD_HUMAN	F	162	ENSP00000446479:L162F	ENSP00000446479:L162F	L	+	3	2	FICD	107436491	0.968000	0.33430	0.446000	0.26920	0.576000	0.36127	0.109000	0.15417	-0.301000	0.08882	-0.137000	0.14449	TTG		0.537	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		5	46	0	0	0	1	0	5	46					C	108912361	G	C	108912361	3	2	313	1	0	0	0	0	1	0	0	0	5887	1368	48	4	492	4	FICD	12	108912361	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	107889125	108912361	24939534	15	31803											
FHOD1	29109	broad.mit.edu	37	chr16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtcttgttgcgctcaCggtatgtggcctgcttctgc	13	13	3	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:67264254C>T	ENST00000258201.4	-	19	3261	c.3014G>A	c.(3013-3015)cGt>cAt	p.R1005H		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		GTTGCGCTCACGGTATGTGGC	0.592																																						ENST00000258201.4																			0				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						c.(3013-3015)cGt>cAt		formin homology 2 domain containing 1							90	84	86					16																	67264254		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264254C>T	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.3014G>A	16.37:g.67264254C>T	ENSP00000258201:p.Arg1005His					FHOD1_ENST00000567687.1_Missense_Mutation_p.R584H	p.R1005H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3261	-		Ovarian(137;0.0563)	1005			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3014G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915416	0.92178	.	.	ENSG00000135723	ENST00000258201	T	0.64438	-0.1	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.83377	0.0010	10	0.87932	D	0	.	17.7539	0.88444	0.0:1.0:0.0:0.0	.	1005	Q9Y613	FHOD1_HUMAN	H	1005	ENSP00000258201:R1005H	ENSP00000258201:R1005H	R	-	2	0	FHOD1	65821755	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.461000	0.80834	2.771000	0.95319	0.561000	0.74099	CGT		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			10	41	0	0	0	1	0	10	41					T	67264254	C	T	67264254	3	4	313	1	0	0	0	0	1	0	0	0	5882	536	19	1	496	1	FHOD1	16	67264254	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		67264254	23090499	16	31804											
CIC	23152	broad.mit.edu	37	chr19	42791872	42791872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagtaccacgacctggCcttccaggtaacgctgttgc	11	13	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:42791872C>T	ENST00000575354.2	+	5	798	c.758C>T	c.(757-759)gCc>gTc	p.A253V	CIC_ENST00000160740.3_Missense_Mutation_p.A253V|CIC_ENST00000572681.2_Missense_Mutation_p.A1162V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	253					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)				CACGACCTGGCCTTCCAGGTA	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3484-3486)gCc>gTc		capicua transcriptional repressor							73	65	68					19																	42791872		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791872C>T	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.758C>T	19.37:g.42791872C>T	ENSP00000458663:p.Ala253Val					CIC_ENST00000575354.2_Missense_Mutation_p.A253V|CIC_ENST00000160740.3_Missense_Mutation_p.A253V	p.A1162V			Q96RK0	CIC_HUMAN			6	3553	+		Prostate(69;0.00682)	253			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3485C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547466	0.65311	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.87277	0.6137	H	0.97158	3.95	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91420	0.5158	8	0.87932	D	0	-16.4772	14.5138	0.67807	0.0:1.0:0.0:0.0	.	253	Q96RK0	CIC_HUMAN	V	253	.	ENSP00000160740:A253V	A	+	2	0	CIC	47483712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.161000	0.77505	2.284000	0.76573	0.555000	0.69702	GCC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	32	0	0	0	1	0	6	32					T	42791872	C	T	42791872	3	4	313	1	0	0	0	0	1	0	0	0	3424	739	26	2	776	2	CIC	19	42791872	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		42791872	16337111	17	31805											
U2AF2	11338	broad.mit.edu	37	chr19	56180480	56180480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaacggcatgcagctggGggataagaagctgctggtcc	16	9	0	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:56180480G>T	ENST00000308924.4	+	10	1017	c.977G>T	c.(976-978)gGg>gTg	p.G326V	CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.G326V|U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	326	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCAGCTGGGGGATAAGAAG	0.657																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(976-978)gGg>gTg		U2 small nuclear RNA auxiliary factor 2							39	40	40					19																	56180480		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180480G>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.977G>T	19.37:g.56180480G>T	ENSP00000307863:p.Gly326Val					U2AF2_ENST00000308924.4_Missense_Mutation_p.G326V|U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA	p.G326V	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	10	1936	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	326			RRM 2.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.977G>T	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393489	0.83011	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.18338	2.22;2.22	3.63	3.63	0.41609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.72982	0.979;0.964	T	0.63514	-0.6620	10	0.87932	D	0	-32.1978	14.6193	0.68572	0.0:0.0:1.0:0.0	.	326;326	P26368;P26368-2	U2AF2_HUMAN;.	V	326	ENSP00000307863:G326V;ENSP00000388475:G326V	ENSP00000307863:G326V	G	+	2	0	U2AF2	60872292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.850000	0.75420	2.054000	0.61138	0.591000	0.81541	GGG		0.657	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		4	32	1	0	1.23904e-05	1	1.27659e-05	4	32					T	56180480	G	T	56180480	3	4	313	1	0	0	0	0	1	0	0	0	16820	1232	43	4	1015	4	U2AF2	19	56180480	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	13388608	56180480	2948503	18	31806											
PHKA2	5256	broad.mit.edu	37	chrX	18924631	18924631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgagcagttcaggctccGtgccagctccgtggccatca	11	15	2	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:18924631G>A	ENST00000379942.4	-	25	3453	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	930					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)					TTCAGGCTCCGTGCCAGCTCC	0.632													G|||	1	0.000264901	0.0	0.0	3775	,	,		11192	0.0		0.0	False		,,,				2504	0.001					ENST00000379942.4																			0				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						c.(2788-2790)Cgg>Tgg		phosphorylase kinase, alpha 2 (liver)							75	65	68					X																	18924631		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18924631G>A		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.2788C>T	X.37:g.18924631G>A	ENSP00000369274:p.Arg930Trp						p.R930W	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			25	3453	-	Hepatocellular(33;0.183)		930					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2788C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605941	0.46527	.	.	ENSG00000044446	ENST00000379942	D	0.91686	-2.89	5.26	2.17	0.27698	.	0.048891	0.85682	D	0.000000	D	0.95837	0.8645	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95330	0.8429	10	0.87932	D	0	-14.6446	15.3079	0.74008	0.0:0.0:0.5933:0.4067	.	930	P46019	KPB2_HUMAN	W	930	ENSP00000369274:R930W	ENSP00000369274:R930W	R	-	1	2	PHKA2	18834552	0.998000	0.40836	0.184000	0.23157	0.255000	0.26057	2.753000	0.47524	0.041000	0.15688	0.600000	0.82982	CGG		0.632	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		23	56	0	0	0	1	0	23	56					A	18924631	G	A	18924631	3	1	313	1	0	0	0	0	1	0	0	0	11844	1144	40	1	955	1	PHKA2	23	18924631	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		18924631	136345929	19	31807											
SYTL5	94122	broad.mit.edu	37	chrX	37969646	37969646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactatgatcgatttggaCgtaatagcttcctcggggaa	12	8	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:37969646C>T	ENST00000357972.5	+	13	2053	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C|SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	503	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGATTTGGACGTAATAGCTT	0.438																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1507-1509)Cgt>Tgt		synaptotagmin-like 5							160	130	140					X																	37969646		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969646C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1507C>T	X.37:g.37969646C>T	ENSP00000350657:p.Arg503Cys					SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C	p.R503C			Q8TDW5	SYTL5_HUMAN			13	2053	+			503			C2 1.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1507C>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242676	0.79912	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.09817	2.94;2.94;2.94	5.79	4.9	0.64082	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.364876	0.34178	N	0.004189	T	0.49490	0.1560	H	0.98218	4.175	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.81914	0.94;0.995	T	0.69243	-0.5196	10	0.87932	D	0	-8.1465	15.3497	0.74373	0.1398:0.8602:0.0:0.0	.	525;503	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	C	503;503;525	ENSP00000297875:R503C;ENSP00000350657:R503C;ENSP00000395220:R525C	ENSP00000297875:R503C	R	+	1	0	SYTL5	37854590	0.876000	0.30132	0.980000	0.43619	0.967000	0.64934	2.850000	0.48294	2.442000	0.82660	0.529000	0.55759	CGT		0.438	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		4	73	0	0	0	1	0	4	73					T	37969646	C	T	37969646	3	4	313	1	0	0	0	0	1	0	0	0	15483	536	19	1	1623	1	SYTL5	23	37969646	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	19045015	37969646	117300914	20	31808											
PLXNB3	5365	broad.mit.edu	37	chrX	153043475	153043475	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtacgggtgtcggacaaTgtggacgccatccttgctgt	14	9	0	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:153043475T>C	ENST00000361971.5	+	32	5448	c.5334T>C	c.(5332-5334)aaT>aaC	p.N1778N	SRPK3_ENST00000393786.3_5'Flank|PLXNB3_ENST00000538966.1_Silent_p.N1801N|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.N1431N|PLXNB3_ENST00000485980.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1778					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)					TGTCGGACAATGTGGACGCCA	0.602																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(5401-5403)aaT>aaC		plexin B3							95	73	80					X																	153043475		2203	4300	6503	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043475T>C	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.5334T>C	X.37:g.153043475T>C						PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000361971.5_Silent_p.N1778N|PLXNB3_ENST00000538776.1_Silent_p.N1431N|SRPK3_ENST00000489426.1_5'UTR	p.N1801N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			33	5674	+	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)		1778					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.5403T>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	T	5.988	0.366188	0.11352	.	.	ENSG00000198753	ENST00000448847	.	.	.	5.22	-8.41	0.00961	.	.	.	.	.	T	0.52484	0.1737	.	.	.	0.39448	D	0.967365	.	.	.	.	.	.	T	0.61888	-0.6970	4	.	.	.	.	11.9224	0.52799	0.0863:0.2638:0.0:0.6498	.	.	.	.	T	82	.	.	M	+	2	0	PLXNB3	152696669	0.003000	0.15002	0.009000	0.14445	0.645000	0.38454	-0.977000	0.03782	-2.375000	0.00598	-2.257000	0.00281	ATG		0.602	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			3	36	0	0	0	1	0	3	36					C	153043475	T	C	153043475	2	2	313	1	0	0	0	0	0	0	0	1	12125	1461	51	3		3	PLXNB3	23	153043475	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08	115073829	153043475	2227085	21	31809											
DMBX1	127343	broad.mit.edu	37	chr1	46976622	46976622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgtggttcaagaacCgccgggccaagttccggaag	14	12	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:46976622C>T	ENST00000360032.3	+	3	363	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	DMBX1_ENST00000371956.4_Missense_Mutation_p.R122C	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTTCAAGAACCGCCGGGCCAA	0.617																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(364-366)Cgc>Tgc		diencephalon/mesencephalon homeobox 1							20	25	23					1																	46976622		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976622C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	19026	protein-coding gene	gene with protein product		607410	"orthodenticle homolog 3 (Drosophila)"	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.349C>T	1.37:g.46976622C>T	ENSP00000353132:p.Arg117Cys					DMBX1_ENST00000360032.3_Missense_Mutation_p.R117C	p.R122C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	379	+	Acute lymphoblastic leukemia(166;0.155)		122			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.364C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370836	0.82573	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.97831	-4.56;-4.56	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98290	1.0513	10	0.87932	D	0	.	12.418	0.55504	0.1678:0.8322:0.0:0.0	.	122;117	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	C	122;117	ENSP00000361024:R122C;ENSP00000353132:R117C	ENSP00000353132:R117C	R	+	1	0	DMBX1	46749209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.572000	0.45999	2.337000	0.79520	0.591000	0.81541	CGC		0.617	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			3	20	0	0	0	1	0	3	20					T	46976622	C	T	46976622	3	4	314	1	0	0	0	0	1	0	0	0	4578	652	23	1	374	1	DMBX1	1	46976622	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		46976622	202273999	1	31810											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131105	150131105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacctcttgtgctgagaGctttcgggttgacctggaca	11	11	1	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:150131105G>A	ENST00000369124.4	+	6	895	c.617G>A	c.(616-618)aGc>aAc	p.S206N	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S172N|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S23N	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGCTGAGAGCTTTCGGGTT	0.617																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.(616-618)aGc>aAc		pleckstrin homology domain containing, family O member 1							78	78	78					1																	150131105		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131105G>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.617G>A	1.37:g.150131105G>A	ENSP00000358120:p.Ser206Asn					PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S23N|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S172N	p.S206N	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	895	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		206			Interaction with ATM, CKIP, IFP35 and NMI.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.617G>A	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586027	0.28268	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T;T	0.53206	0.63;2.19;2.19	4.97	4.06	0.47325	.	0.339398	0.38778	N	0.001576	T	0.27027	0.0662	L	0.57536	1.79	0.41784	D	0.989831	B	0.10296	0.003	B	0.09377	0.004	T	0.12116	-1.0560	10	0.30854	T	0.27	-14.0785	12.4557	0.55702	0.0806:0.0:0.9194:0.0	.	206	Q53GL0	PKHO1_HUMAN	N	23;172;206;86	ENSP00000025469:S172N;ENSP00000358120:S206N;ENSP00000409060:S86N	ENSP00000025469:S172N	S	+	2	0	PLEKHO1	148397729	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.355000	0.44107	1.310000	0.45006	0.655000	0.94253	AGC		0.617	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		7	93	0	0	0	1	0	7	93					A	150131105	G	A	150131105	3	1	314	1	0	0	0	0	1	0	0	0	12084	971	34	2	639	2	PLEKHO1	1	150131105	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	103154483	150131105	99119516	2	31811											
SCTR	6344	broad.mit.edu	37	chr2	120197767	120197767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgttgctgaaggaggCcacggggtgcagtgggaact	19	7	0	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:120197767C>T	ENST00000019103.5	-	13	1516	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	417					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)	CTGAAGGAGGCCACGGGGTGC	0.637																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(1249-1251)Gcc>Acc		secretin receptor	Secretin(DB00021)						76	63	67					2																	120197767		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120197767C>T		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	ENST00000019103.5:c.1249G>A	2.37:g.120197767C>T	ENSP00000019103:p.Ala417Thr						p.A417T	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			13	1516	-			417					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.1249G>A	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.954276	0.00470	.	.	ENSG00000080293	ENST00000019103	T	0.35605	1.3	4.98	0.895	0.19247	.	0.814128	0.10587	N	0.657236	T	0.21145	0.0509	N	0.16743	0.435	0.09310	N	1	B	0.25563	0.129	B	0.26614	0.071	T	0.24190	-1.0167	10	0.39692	T	0.17	.	6.5904	0.22644	0.0:0.5643:0.2747:0.161	.	417	P47872	SCTR_HUMAN	T	417	ENSP00000019103:A417T	ENSP00000019103:A417T	A	-	1	0	SCTR	119914237	0.001000	0.12720	0.416000	0.26546	0.001000	0.01503	0.150000	0.16263	0.285000	0.22329	-0.781000	0.03364	GCC		0.637	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			12	26	0	0	0	1	0	12	26					T	120197767	C	T	120197767	3	4	314	1	0	0	0	0	1	0	0	0	13943	739	26	2	77	2	SCTR	2	120197767	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		120197767	123001606	3	31812											
PLEKHM3	389072	broad.mit.edu	37	chr2	208866024	208866024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaattaaaggttgatgCttccttttgttccatccagg	9	7	0	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:208866024C>T	ENST00000427836.2	-	2	829	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A114T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A114T	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	114					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTGATGCTTCCTTTTGT	0.453																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(340-342)Gca>Aca		pleckstrin homology domain containing, family M, member 3							111	111	111					2																	208866024		2003	4174	6177	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208866024C>T	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.340G>A	2.37:g.208866024C>T	ENSP00000417003:p.Ala114Thr					PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A114T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A114T	p.A114T			Q6ZWE6	PKHM3_HUMAN			2	767	-			114					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.340G>A	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.894980	0.17613	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.84516	-1.81;-1.83;-1.86	5.56	2.5	0.30297	.	0.216731	0.37483	N	0.002066	T	0.66509	0.2796	N	0.11560	0.145	0.25824	N	0.984251	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.50110	-0.8866	10	0.13108	T	0.6	.	8.309	0.32060	0.0:0.5948:0.0:0.4052	.	114;114	C9J119;Q6ZWE6	.;PKHM3_HUMAN	T	114	ENSP00000417003:A114T;ENSP00000373899:A114T;ENSP00000400150:A114T	ENSP00000373899:A114T	A	-	1	0	PLEKHM3	208574269	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	0.939000	0.28978	0.708000	0.31955	0.644000	0.83932	GCA		0.453	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		16	79	0	0	0	1	0	16	79					T	208866024	C	T	208866024	3	4	314	1	0	0	0	0	1	0	0	0	12082	797	28	2	1973	2	PLEKHM3	2	208866024	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	88668257	208866024	34333349	4	31813											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	30	0	0	0	1	0	14	30					T	209113112	C	T	209113112	3	4	314	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	247088	209113112	34086261	5	31814											
LHFPL4	375323	broad.mit.edu	37	chr3	9594261	9594261	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccaccacgttgatgaTggcgaagcagatggtgaaga	14	7	0	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:9594261T>C	ENST00000287585.6	-	2	388	c.103A>G	c.(103-105)Atc>Gtc	p.I35V	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	49						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGTTGATGATGGCGAAGCAG	0.632																																						ENST00000287585.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(103-105)Atc>Gtc		lipoma HMGIC fusion partner-like 4							69	77	74					3																	9594261		2203	4300	6503	SO:0001583	missense	375323					integral to membrane		g.chr3:9594261T>C	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.103A>G	3.37:g.9594261T>C	ENSP00000287585:p.Ile35Val						p.I35V	NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN			2	388	-	Medulloblastoma(99;0.227)		35					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	c.103A>G	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520754	0.64747	.	.	ENSG00000156959	ENST00000287585	T	0.71579	-0.58	3.78	2.54	0.30619	.	0.000000	0.64402	D	0.000001	T	0.59059	0.2166	L	0.41824	1.3	0.44366	D	0.997269	B	0.29531	0.247	B	0.33960	0.173	T	0.47182	-0.9137	10	0.18276	T	0.48	-20.8358	10.0937	0.42462	0.0:0.0:0.1693:0.8307	.	35	Q7Z7J7	LHPL4_HUMAN	V	35	ENSP00000287585:I35V	ENSP00000287585:I35V	I	-	1	0	LHFPL4	9569261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	0.562000	0.29204	0.254000	0.18369	ATC		0.632	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		5	70	0	0	0	1	0	5	70					C	9594261	T	C	9594261	3	2	314	1	0	0	0	0	1	0	0	0	8767	1464	51	3	652	3	LHFPL4	3	9594261	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		9594261	188428169	6	31815											
MST1	327	broad.mit.edu	37	chr3	49723304	49723304	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	16	13	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.P413P|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1237-1239)ccG>ccA		macrophage stimulating 1 (hepatocyte growth factor-like)							56	53	54					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_ENST00000383728.3_3'UTR	p.P413P	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1600	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	121	0	0	0	1	0	5	121					T	49723304	C	T	49723304	1	4	314	0	1	0	0	0	0	0	0	0	9890	755	27	1		1	MST1	3	49723304	IGR	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	40129043	49723304	148299126	7	31816											
KIAA1524	57650	broad.mit.edu	37	chr3	108308132	108308132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcacctccaagtgccGcaaaagctgagtggcgttcg	11	14	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:108308132G>A	ENST00000295746.8	-	1	167	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	KIAA1524_ENST00000487834.1_5'UTR|DZIP3_ENST00000361582.3_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	31					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAGTGCCGCAAAAGCTGA	0.587																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(91-93)Cgg>Tgg		KIAA1524							60	51	55					3																	108308132		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108308132G>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.91C>T	3.37:g.108308132G>A	ENSP00000295746:p.Arg31Trp					KIAA1524_ENST00000487834.1_5'UTR	p.R31W	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			1	167	-			31					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.91C>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494070	0.84962	.	.	ENSG00000163507	ENST00000295746	T	0.12774	2.65	5.14	4.23	0.50019	.	0.107189	0.64402	D	0.000005	T	0.34513	0.0900	M	0.61703	1.905	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.13710	-1.0499	10	0.87932	D	0	-10.3543	14.6194	0.68574	0.0:0.0:0.8486:0.1514	.	31	Q8TCG1	CIP2A_HUMAN	W	31	ENSP00000295746:R31W	ENSP00000295746:R31W	R	-	1	2	KIAA1524	109790822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.296000	0.51802	1.466000	0.48025	0.655000	0.94253	CGG		0.587	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		3	30	0	0	0	1	0	3	30					A	108308132	G	A	108308132	3	1	314	1	0	0	0	0	1	0	0	0	8239	1086	38	1	2710	1	KIAA1524	3	108308132	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	58584828	108308132	89714298	8	31817											
ADPRH	141	broad.mit.edu	37	chr3	119305222	119305222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccatgagggcggctgtgGggctgccatgcgggccatgt	18	11	0	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:119305222G>A	ENST00000478399.1	+	3	1794	c.389G>A	c.(388-390)gGg>gAg	p.G130E	ADPRH_ENST00000465513.1_Missense_Mutation_p.G130E|ADPRH_ENST00000478927.1_Missense_Mutation_p.G130E|ADPRH_ENST00000357003.3_Missense_Mutation_p.G130E|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	130					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCGGCTGTGGGGCTGCCATG	0.612																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(388-390)gGg>gAg		ADP-ribosylarginine hydrolase							91	92	92					3																	119305222		2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119305222G>A	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.389G>A	3.37:g.119305222G>A	ENSP00000420200:p.Gly130Glu					ADPRH_ENST00000478927.1_Missense_Mutation_p.G130E|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.G130E|ADPRH_ENST00000357003.3_Missense_Mutation_p.G130E	p.G130E			P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	1794	+		Lung NSC(201;0.0977)	130					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.389G>A	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863246	0.91511	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.82788	0.5113	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87017	0.2126	10	0.87932	D	0	-18.5769	16.8112	0.85720	0.0:0.0:1.0:0.0	.	130	P54922	ADPRH_HUMAN	E	130	ENSP00000420200:G130E;ENSP00000417528:G130E;ENSP00000349496:G130E;ENSP00000417430:G130E	ENSP00000349496:G130E	G	+	2	0	ADPRH	120787912	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	8.794000	0.91867	2.837000	0.97791	0.655000	0.94253	GGG		0.612	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		9	150	0	0	0	1	0	9	150					A	119305222	G	A	119305222	3	1	314	1	0	0	0	0	1	0	0	0	331	1232	43	2	395	2	ADPRH	3	119305222	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10997090	119305222	78717208	9	31818											
TFRC	7037	broad.mit.edu	37	chr3	195803944	195803944	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaatatcttaccaagttagaGaatgctgatctagcttgatc	7	7	2	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:195803944G>C	ENST00000360110.4	-	2	196	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TFRC_ENST00000540528.1_Missense_Mutation_p.F8L|TFRC_ENST00000392396.3_Missense_Mutation_p.F9L|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	9	Mediates interaction with SH3BP4.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|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 plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCAAGTTAGAGAATGCTGATC	0.343			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"transferrin receptor (p90, CD71)"			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(25-27)ttC>ttG		transferrin receptor							110	108	109					3																	195803944		2203	4299	6502	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195803944G>C	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.27C>G	3.37:g.195803944G>C	ENSP00000353224:p.Phe9Leu					TFRC_ENST00000420415.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.F9L|TFRC_ENST00000540528.1_Missense_Mutation_p.F8L|TFRC_ENST00000535031.1_5'UTR	p.F9L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	2	196	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		9			Mediates interaction with SH3BP4.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.27C>G	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531251	0.27387	.	.	ENSG00000072274	ENST00000360110;ENST00000540528;ENST00000392396	T;T	0.32753	1.44;1.44	5.82	0.685	0.18009	.	0.325142	0.30695	N	0.009071	T	0.14700	0.0355	N	0.21448	0.665	0.21984	N	0.999438	B	0.09022	0.002	B	0.08055	0.003	T	0.15983	-1.0418	10	0.24483	T	0.36	-1.6623	3.1419	0.06458	0.157:0.3837:0.328:0.1312	.	9	P02786	TFR1_HUMAN	L	9;8;9	ENSP00000353224:F9L;ENSP00000376197:F9L	ENSP00000353224:F9L	F	-	3	2	TFRC	197288341	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	0.881000	0.28173	-0.152000	0.11156	-0.951000	0.02657	TTC		0.343	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			14	34	0	0	0	1	0	14	34					C	195803944	G	C	195803944	3	2	314	1	0	0	0	0	1	0	0	0	15809	933	33	4	2327	4	TFRC	3	195803944	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76498722	195803944	2218486	10	31819											
DDX60L	91351	broad.mit.edu	37	chr4	169379129	169379129	+	Frame_Shift_Del	DEL	T	T	-													ttccaagtgttgtatgaggcTtttatatgcactctgaatca							TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr4:169379129delT	ENST00000511577.1	-	6	884	c.637delA	c.(637-639)agcfs	p.S213fs	DDX60L_ENST00000505890.1_Frame_Shift_Del_p.S213fs|DDX60L_ENST00000260184.7_Frame_Shift_Del_p.S213fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	213							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTATGAGGCTTTTATATGCA	0.294																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(637-639)gcfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							64	58	60					4																	169379129		1801	4048	5849	SO:0001589	frameshift_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169379129delT	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.637delA	4.37:g.169379129delT	ENSP00000422423:p.Ser213fs					DDX60L_ENST00000260184.7_Frame_Shift_Del_p.S213fs|DDX60L_ENST00000505890.1_Frame_Shift_Del_p.S213fs	p.S213fs			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	6	884	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	213					Q96ND6	Frame_Shift_Del	DEL	ENST00000511577.1	37	c.637delA																																																																																					0.294	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		2	4						2	4	---	---	---	---	-	169379129	T	-	169379129	7	5	314	1	0	1	0	1	0	0	0	0	4379	1609	56	0	4615	0	DDX60L	4	169379129	Frame_Shift_Del	DEL	T	TCGA-HT-A5R5-01A-11D-A289-08		169379129	21775147	11	31820											
TERT	7015	broad.mit.edu	37	chr5	1264587	1264587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaccaggggaataggccGtgggccggcatctgaacaaa	14	12	1	1	rs34528119		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:1264587G>A	ENST00000310581.5	-	11	2832	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	925	Required for oligomerization.|Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				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)	GGAATAGGCCGTGGGCCGGCA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17463	0.0		0.0	False		,,,				2504	0.0					ENST00000310581.5																			0				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						c.(2773-2775)caC>caT		telomerase reverse transcriptase		G	,	1,4099		0,1,2049	42	51	48		,2775	1.7	0.9	5	dbSNP_126	48	10,8376		0,10,4183	yes	intron,coding-synonymous	TERT	NM_001193376.1,NM_198253.2	,	0,11,6232	AA,AG,GG		0.1192,0.0244,0.0881	,	,925/1133	1264587	11,12475	2050	4193	6243	SO:0001819	synonymous_variant	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1264587G>A	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.2775C>T	5.37:g.1264587G>A						TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	p.H925H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2832	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		925			Required for oligomerization.|Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2775C>T	CCDS3861.2																																																																																				0.627	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			20	44	0	0	0	1	0	20	44					A	1264587	G	A	1264587	2	1	314	1	0	0	0	0	0	0	0	1	15761	1136	40	1		1	TERT	5	1264587	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		1264587	179650673	12	31821											
CDH9	1007	broad.mit.edu	37	chr5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttcttactctggggaaatCgaggagggttgttgttgaca	13	5	2	1	rs531958842		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2. {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)	p.R267Q(1)		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						CTGGGGAAATCGAGGAGGGTT	0.428																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			1	Substitution - Missense(1)	p.R267Q(1)	lung(1)	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						c.(799-801)cGa>cAa		cadherin 9, type 2 (T1-cadherin)							189	181	184					5																	26906079		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906079C>T	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.800G>A	5.37:g.26906079C>T	ENSP00000231021:p.Arg267Gln						p.R267Q	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			5	972	-			267			Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.800G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468779	0.84533	.	.	ENSG00000113100	ENST00000231021	T	0.37915	1.17	5.6	5.6	0.85130	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	N	0.20807	0.61	0.45690	D	0.9986	D	0.58970	0.984	P	0.55713	0.782	T	0.07158	-1.0787	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	267	Q9ULB4	CADH9_HUMAN	Q	267	ENSP00000231021:R267Q	.	R	-	2	0	CDH9	26941836	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.883000	0.63128	2.802000	0.96397	0.650000	0.86243	CGA		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		4	130	0	0	0	1	0	4	130					T	26906079	C	T	26906079	3	4	314	1	0	0	0	0	1	0	0	0	3117	884	31	1	1601	1	CDH9	5	26906079	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	25641492	26906079	154009181	13	31822											
SKIV2L2	23517	broad.mit.edu	37	chr5	54720585	54720585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatattgtgtttgctgcCagcctctacttgtagagtca	10	8	2	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:54720585C>T	ENST00000230640.5	+	27	3368	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SKIV2L2_ENST00000545714.1_Silent_p.A937A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	1038					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)				TGTTTGCTGCCAGCCTCTACT	0.378																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				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						c.(3112-3114)gcC>gcT		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							105	103	103					5																	54720585		2203	4300	6503	SO:0001819	synonymous_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54720585C>T	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.3114C>T	5.37:g.54720585C>T						SKIV2L2_ENST00000545714.1_Silent_p.A937A	p.A1038A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			27	3368	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	1038					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	c.3114C>T	CCDS3967.1																																																																																				0.378	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			4	38	0	0	0	1	0	4	38					T	54720585	C	T	54720585	2	4	314	1	0	0	0	0	0	0	0	1	14360	581	21	2		2	SKIV2L2	5	54720585	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	27814506	54720585	126194675	14	31823											
HARS	3035	broad.mit.edu	37	chr5	140070858	140070858	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctctccctgaagtttcAccagctcctccagcgccgca	8	19	2	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:140070858A>T	ENST00000504156.1	-	1	751	c.32T>A	c.(31-33)gTg>gAg	p.V11E	HARS_ENST00000415192.2_Missense_Mutation_p.V11E|HARS_ENST00000431330.2_Missense_Mutation_p.V11E|HARS_ENST00000448240.1_5'UTR|HARS2_ENST00000432671.2_5'Flank|HARS2_ENST00000230771.3_5'Flank|HARS2_ENST00000448069.2_5'Flank|HARS_ENST00000438307.2_Missense_Mutation_p.V11E|HARS2_ENST00000435019.2_5'Flank|HARS2_ENST00000437649.2_5'Flank|HARS_ENST00000307633.3_Missense_Mutation_p.V11E|HARS2_ENST00000508522.1_5'Flank|HARS_ENST00000457527.2_Missense_Mutation_p.V11E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	11	WHEP-TRS.				gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTGAAGTTTCACCAGCTCCTC	0.652																																						ENST00000504156.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(31-33)gTg>gAg		histidyl-tRNA synthetase	L-Histidine(DB00117)						37	32	33					5																	140070858		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140070858A>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.32T>A	5.37:g.140070858A>T	ENSP00000425634:p.Val11Glu					HARS_ENST00000415192.2_Missense_Mutation_p.V11E|HARS_ENST00000438307.2_Missense_Mutation_p.V11E|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000431330.2_Missense_Mutation_p.V11E|HARS_ENST00000457527.2_Missense_Mutation_p.V11E|HARS_ENST00000307633.3_Missense_Mutation_p.V11E	p.V11E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	751	-			11			WHEP-TRS.		B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.32T>A	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.629221	0.87560	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.65	5.65	0.86999	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.267324	0.37348	N	0.002131	T	0.55862	0.1947	L	0.41492	1.28	0.80722	D	1	D;D;D;D;P;B;P;D	0.76494	0.999;0.986;0.986;0.989;0.918;0.005;0.918;0.986	D;P;P;P;P;B;P;P	0.75020	0.985;0.796;0.796;0.773;0.609;0.005;0.609;0.796	T	0.47661	-0.9100	10	0.12430	T	0.62	-4.0285	13.8738	0.63638	1.0:0.0:0.0:0.0	.	11;11;11;11;11;11;11;11	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	E	11	ENSP00000425634:V11E;ENSP00000387893:V11E;ENSP00000393244:V11E;ENSP00000304668:V11E;ENSP00000411511:V11E;ENSP00000411085:V11E;ENSP00000425889:V11E	ENSP00000304668:V11E	V	-	2	0	HARS	140051042	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	3.984000	0.56923	2.371000	0.80710	0.533000	0.62120	GTG		0.652	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		11	29	0	0	0	1	0	11	29					T	140070858	A	T	140070858	3	4	314	1	0	0	0	0	1	0	0	0	6959	159	6	5	1549	5	HARS	5	140070858	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	85350273	140070858	40844402	15	31824											
MUC21	394263	broad.mit.edu	37	chr6	30954806	30954806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtgggatcagcacagTcaccaattctgagtccagca	10	12	3	1	rs9262370		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:30954806T>C	ENST00000376296.3	+	2	1095	c.854T>C	c.(853-855)gTc>gCc	p.V285A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	285	28 X 15 AA approximate tandem repeats.|Ser-rich.		V -> A (in dbSNP:rs9262370). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATCAGCACAGTCACCAATTCT	0.612																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(853-855)gTc>gCc		mucin 21, cell surface associated							209	200	203					6																	30954806		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954806T>C	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.854T>C	6.37:g.30954806T>C	ENSP00000365473:p.Val285Ala					MUC21_ENST00000486149.2_5'UTR	p.V285A	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1095	+			285		V -> A (in dbSNP:rs9262370).	28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.854T>C	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	0.348	-0.946698	0.02304	.	.	ENSG00000204544	ENST00000376296	T	0.02258	4.37	3.83	-1.46	0.08800	.	.	.	.	.	T	0.00328	0.0010	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	8	.	.	.	.	4.9091	0.13812	0.1391:0.4193:0.0:0.4416	rs9262370;rs9262370	285	Q5SSG8	MUC21_HUMAN	A	285	ENSP00000365473:V285A	.	V	+	2	0	MUC21	31062785	0.001000	0.12720	0.000000	0.03702	0.091000	0.18340	0.037000	0.13840	-0.810000	0.04375	-0.354000	0.07668	GTC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		10	332	0	0	0	1	0	10	332					C	30954806	T	C	30954806	3	2	314	1	0	0	0	0	1	0	0	0	9977	1667	58	3	860	3	MUC21	6	30954806	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		30954806	140160261	16	31825											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	155						8	155	---	---	---	---	A	31939830	-	A	31939829	7	5	314	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5R5-01A-11D-A289-08	985023	31939829	139175238	17	31826											
ITPR3	3710	broad.mit.edu	37	chr6	33660584	33660584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgctgaacctcatctTtggggtaatcatcgacacct	8	11	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:33660584T>G	ENST00000374316.5	+	56	8598	c.7538T>G	c.(7537-7539)tTt>tGt	p.F2513C	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2513C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2513					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)	AACCTCATCTTTGGGGTAATC	0.517																																						ENST00000374316.5																			0				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						c.(7537-7539)tTt>tGt		inositol 1,4,5-trisphosphate receptor, type 3							195	157	170					6																	33660584		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33660584T>G	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.7538T>G	6.37:g.33660584T>G	ENSP00000363435:p.Phe2513Cys					ITPR3_ENST00000605930.1_Missense_Mutation_p.F2513C	p.F2513C			Q14573	ITPR3_HUMAN			56	8598	+			2513					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7538T>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.894567	0.91962	.	.	ENSG00000096433	ENST00000374316	D	0.98531	-4.98	5.48	5.48	0.80851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99712	1.1007	10	0.87932	D	0	-10.687	15.581	0.76439	0.0:0.0:0.0:1.0	.	2513;2183	Q14573;Q59ES2	ITPR3_HUMAN;.	C	2513	ENSP00000363435:F2513C	ENSP00000363435:F2513C	F	+	2	0	ITPR3	33768562	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.040000	0.89188	2.074000	0.62210	0.459000	0.35465	TTT		0.517	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	92	0	0	0	1	0	4	92					G	33660584	T	G	33660584	3	3	314	1	0	0	0	0	1	0	0	0	7922	1841	64	5	7756	5	ITPR3	6	33660584	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	1720755	33660584	137454483	18	31827											
PRSS35	167681	broad.mit.edu	37	chr6	84233254	84233254	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggattttatgtggcacttgAgaaaggtaccccggattgtc	13	7	0	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:84233254A>T	ENST00000369700.3	+	2	271	c.94A>T	c.(94-96)Aga>Tga	p.R32*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.R32*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	32						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)		GTGGCACTTGAGAAAGGTACC	0.448																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(94-96)Aga>Tga		protease, serine, 35							132	131	131					6																	84233254		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233254A>T	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.94A>T	6.37:g.84233254A>T	ENSP00000358714:p.Arg32*					PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R32*	p.R32*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	439	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	32					A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.94A>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857223	0.51376	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.33	1.23	0.21249	.	0.409703	0.27720	N	0.018129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-13.169	7.9903	0.30237	0.701:0.2292:0.0698:0.0	.	.	.	.	X	32	.	ENSP00000358714:R32X	R	+	1	2	PRSS35	84289973	1.000000	0.71417	0.206000	0.23566	0.163000	0.22366	2.917000	0.48821	0.867000	0.35654	0.459000	0.35465	AGA		0.448	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		9	105	0	0	0	1	0	9	105					T	84233254	A	T	84233254	4	4	314	1	0	0	0	0	0	1	0	0	12624	296	11	5	96	5	PRSS35	6	84233254	Nonsense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	50572670	84233254	86881813	19	31828											
FBXO30	84085	broad.mit.edu	37	chr6	146126348	146126348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttatcttcctttggtttAgaccaacatgaattagaaag	7	7	1	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:146126348A>G	ENST00000237281.4	-	2	1360	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	398	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTTTGGTTTAGACCAACATG	0.388																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1192-1194)tcT>tcC		F-box protein 30							164	168	167					6																	146126348		2203	4300	6503	SO:0001819	synonymous_variant	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126348A>G	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1194T>C	6.37:g.146126348A>G							p.S398S	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1360	-		Ovarian(120;0.0776)	398			F-box.		Q9BXZ7	Silent	SNP	ENST00000237281.4	37	c.1194T>C	CCDS5208.1																																																																																				0.388	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			48	91	0	0	0	1	0	48	91					G	146126348	A	G	146126348	2	3	314	1	0	0	0	0	0	0	0	1	5740	407	15	3		3	FBXO30	6	146126348	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	61893094	146126348	24988719	20	31829											
FOXK1	221937	broad.mit.edu	37	chr7	4798771	4798771	+	Frame_Shift_Del	DEL	C	C	-													gtgcctgtctcgggagggctCccccattccacacgaccctg							TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:4798771delC	ENST00000328914.4	+	6	1334	c.1334delC	c.(1333-1335)tccfs	p.S445fs	FOXK1_ENST00000446823.1_Frame_Shift_Del_p.S282fs	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGGGAGGGCTCCCCCATTCCA	0.652																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1333-1335)tcfs		forkhead box K1							92	97	95					7																	4798771		2203	4300	6503	SO:0001589	frameshift_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4798771delC	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1334delC	7.37:g.4798771delC	ENSP00000328720:p.Ser445fs					FOXK1_ENST00000446823.1_Frame_Shift_Del_p.S282fs	p.S445fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	6	1334	+		Ovarian(82;0.0175)	445	Missing (in Ref. 1; AK122663).					Frame_Shift_Del	DEL	ENST00000328914.4	37	c.1334delC	CCDS34591.1																																																																																				0.652	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			7	245						7	245	---	---	---	---	-	4798771	C	-	4798771	7	5	314	1	0	1	0	1	0	0	0	0	6014	855	30	0	1356	0	FOXK1	7	4798771	Frame_Shift_Del	DEL	C	TCGA-HT-A5R5-01A-11D-A289-08		4798771	154339892	21	31830											
ZNF394	84124	broad.mit.edu	37	chr7	99091497	99091497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatatgacaggtttccccGcattcctcacatttaaaatg	6	10	1	1	rs377630090		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:99091497G>A	ENST00000337673.6	-	3	1544	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'Flank	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	447					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)					AGGTTTCCCCGCATTCCTCAC	0.428																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(1339-1341)tgC>tgT		zinc finger protein 394		G		1,4405	2.1+/-5.4	0,1,2202	127	128	127		1341	-2	0.9	7		127	0,8600		0,0,4300	no	coding-synonymous	ZNF394	NM_032164.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		447/562	99091497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091497G>A	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.1341C>T	7.37:g.99091497G>A						ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	p.C447C	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			3	1544	-	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)		447					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.1341C>T	CCDS5666.1																																																																																				0.428	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		4	133	0	0	0	1	0	4	133					A	99091497	G	A	99091497	2	1	314	1	0	0	0	0	0	0	0	1	17877	1079	38	1		1	ZNF394	7	99091497	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	94292726	99091497	60047166	22	31831											
PLXNA4	91584	broad.mit.edu	37	chr7	131829883	131829889	+	Frame_Shift_Del	DEL	GCTCTTC	GCTCTTC	-													cctcccttcactcaccaattGctcttccaggtatggcggac							TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:131829883_131829889delGCTCTTC	ENST00000359827.3	-	29	6176_6182	c.5214_5220delGAAGAGC	c.(5212-5220)tggaagagcfs	p.WKS1738fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.WKS1738fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1738					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACCAATTGCTCTTCCAGGTATGGC	0.594																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5212-5220)tgfs		plexin A4																																				SO:0001589	frameshift_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131829883_131829889delGCTCTTC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5214_5220delGAAGAGC	7.37:g.131829883_131829889delGCTCTTC	ENSP00000352882:p.Trp1738fs					PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.WKS1738fs	p.WKS1738fs			Q9HCM2	PLXA4_HUMAN			29	6176_6182	-			1738					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Frame_Shift_Del	DEL	ENST00000359827.3	37	c.5214_5220delGAAGAGC	CCDS43646.1																																																																																				0.594	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		10	58						10	58	---	---	---	---	-	131829889	GCTCTTC	-	131829883	7	5	314	1	0	1	0	1	0	0	0	0	12122	1310	46	0	480	0	PLXNA4	7	131829883	Frame_Shift_Del	DEL	GCTCTTC	TCGA-HT-A5R5-01A-11D-A289-08	32738386	131829883	27308780	23	31832											
PRSS2	154754	broad.mit.edu	37	chr7	142480060	142480060	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtcagcaggtcactgCtacaagccgtaagtgtggtg	15	8	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:142480060C>T	ENST00000603901.1	+	0	192					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAGGTCACTGCTACAAGCCGT	0.567																																						ENST00000603901.1																			0																				33	28	30					7																	142480060		692	1591	2283			0							g.chr7:142480060C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142480060C>T								NR_001296.3						0	192	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		22	92	0	0	0	1	0	22	92					T	142480060	C	T	142480060	1	4	314	0	1	0	0	0	0	0	0	0	12617	805	28	2		2	PRSS2	7	142480060	RNA	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	10650177	142480060	16658603	24	31833											
PTK2B	2185	broad.mit.edu	37	chr8	27279873	27279873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggtcagcgagggcatggCcctgcagctgggctgcctgg	17	12	1	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:27279873C>T	ENST00000397501.1	+	10	1332	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PTK2B_ENST00000420218.2_Missense_Mutation_p.A175V|PTK2B_ENST00000544172.1_Missense_Mutation_p.A175V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A175V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A175V|PTK2B_ENST00000517339.1_Missense_Mutation_p.A175V	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	175	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)	GAGGGCATGGCCCTGCAGCTG	0.652																																						ENST00000397501.1																			0				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						c.(523-525)gCc>gTc		protein tyrosine kinase 2 beta							60	50	53					8																	27279873		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27279873C>T	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.524C>T	8.37:g.27279873C>T	ENSP00000380638:p.Ala175Val					PTK2B_ENST00000517339.1_Missense_Mutation_p.A175V|PTK2B_ENST00000420218.2_Missense_Mutation_p.A175V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A175V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A175V|PTK2B_ENST00000544172.1_Missense_Mutation_p.A175V	p.A175V	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	10	1332	+		Ovarian(32;2.72e-05)	175			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.524C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	36	5.637215	0.96693	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000522517;ENST00000412793;ENST00000517339	T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;0.66;-1.34;-1.34	4.86	4.86	0.63082	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	D	0.88551	0.6467	M	0.73598	2.24	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.69479	0.911;0.964	D	0.89449	0.3729	10	0.62326	D	0.03	.	15.5365	0.76007	0.0:1.0:0.0:0.0	.	175;175	Q14289-2;Q14289	.;FAK2_HUMAN	V	175;180;175;175;175;175;175;175;175	ENSP00000380638:A175V;ENSP00000342242:A175V;ENSP00000440926:A175V;ENSP00000332816:A175V;ENSP00000391995:A175V;ENSP00000428271:A175V;ENSP00000416174:A175V;ENSP00000427931:A175V	ENSP00000342242:A175V	A	+	2	0	PTK2B	27335790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.192000	0.77771	2.536000	0.85505	0.650000	0.86243	GCC		0.652	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		3	39	0	0	0	1	0	3	39					T	27279873	C	T	27279873	3	4	314	1	0	0	0	0	1	0	0	0	12763	739	26	2	538	2	PTK2B	8	27279873	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		27279873	119084149	25	31834											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	8	0	0	0	1	0	7	8					G	41790659	T	G	41790659	2	3	314	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	14510786	41790659	104573363	26	31835											
TRHR	7201	broad.mit.edu	37	chr8	110100140	110100140	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctgtcaccccatcaaagcCcagtttctctgcacattttc	4	15	4	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:110100140C>G	ENST00000518632.1	+	2	750	c.399C>G	c.(397-399)gcC>gcG	p.A133A	TRHR_ENST00000311762.2_Silent_p.A133A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	133					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCATCAAAGCCCAGTTTCTCT	0.413																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(397-399)gcC>gcG		thyrotropin-releasing hormone receptor							132	111	118					8																	110100140		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100140C>G		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.399C>G	8.37:g.110100140C>G						TRHR_ENST00000311762.2_Silent_p.A133A	p.A133A			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	750	+			133					Q2M339	Silent	SNP	ENST00000518632.1	37	c.399C>G	CCDS6311.1																																																																																				0.413	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			20	33	0	0	0	1	0	20	33					G	110100140	C	G	110100140	2	3	314	1	0	0	0	0	0	0	0	1	16477	610	22	4		4	TRHR	8	110100140	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	68309481	110100140	36263882	27	31836											
RORB	6096	broad.mit.edu	37	chr9	77277523	77277523	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattctacttctgaagtcagGtaagcaagaagattcatggg	10	6	4	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr9:77277523G>T	ENST00000396204.2	+	6	925		c.e6+1		RORB_ENST00000376896.3_Splice_Site			Q92753	RORB_HUMAN	RAR-related orphan receptor B						amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CTGAAGTCAGGTAAGCAAGAA	0.458																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.e6+1		RAR-related orphan receptor B							139	133	135					9																	77277523		2203	4300	6503	SO:0001630	splice_region_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77277523G>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.925+1G>T	9.37:g.77277523G>T						RORB_ENST00000396204.2_Splice_Site		NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			6	1504	+								Q8WX73	Splice_Site	SNP	ENST00000396204.2	37			.	.	.	.	.	.	.	.	.	.	G	23.0	4.358783	0.82243	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3573	0.94420	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RORB	76467343	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.571000	0.86741	0.563000	0.77884	.		0.458	RORB-201	KNOWN	basic	protein_coding	protein_coding			Intron	12	74	1	0	7.93312e-07	1	8.34345e-07	12	74					T	77277523	G	T	77277523	5	4	314	1	0	0	0	0	0	0	1	0	13529	1275	44	4	915	4	RORB	9	77277523	Splice_Site	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		77277523	63935908	28	31837											
BTAF1	9044	broad.mit.edu	37	chr10	93749186	93749186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactatgcagctcagtgcatAgctaaactccttcagcagtg	8	11	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:93749186A>G	ENST00000265990.6	+	20	3011	c.2703A>G	c.(2701-2703)atA>atG	p.I901M		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	901					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTCAGTGCATAGCTAAACTCC	0.388																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(2701-2703)atA>atG		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							77	81	80					10																	93749186		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93749186A>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2703A>G	10.37:g.93749186A>G	ENSP00000265990:p.Ile901Met						p.I901M	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			20	3011	+		Colorectal(252;0.0846)	901					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.2703A>G	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442031	0.63067	.	.	ENSG00000095564	ENST00000265990	T	0.69175	-0.38	5.25	2.85	0.33270	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.193081	0.52532	N	0.000077	T	0.68174	0.2972	L	0.53249	1.67	0.80722	D	1	P;P	0.44776	0.843;0.843	P;P	0.52386	0.697;0.697	T	0.65961	-0.6041	10	0.72032	D	0.01	-15.3982	7.0355	0.24991	0.7954:0.0:0.0725:0.1321	.	901;901	Q2M1V9;O14981	.;BTAF1_HUMAN	M	901	ENSP00000265990:I901M	ENSP00000265990:I901M	I	+	3	3	BTAF1	93739166	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.929000	0.28844	0.297000	0.22615	0.482000	0.46254	ATA		0.388	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		30	46	0	0	0	1	0	30	46					G	93749186	A	G	93749186	3	3	314	1	0	0	0	0	1	0	0	0	1536	410	15	3	2781	3	BTAF1	10	93749186	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		93749186	41785561	29	31838											
PPRC1	23082	broad.mit.edu	37	chr10	103900414	103900414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggagtcagagtccttgGacccaccaaagaccatcatc	9	13	2	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:103900414G>A	ENST00000278070.2	+	5	2188	c.2149G>A	c.(2149-2151)Gac>Aac	p.D717N	PPRC1_ENST00000413464.2_Missense_Mutation_p.D717N|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	717					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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGAGTCCTTGGACCCACCAAA	0.537																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2149-2151)Gac>Aac		peroxisome proliferator-activated receptor gamma, coactivator-related 1							86	82	83					10																	103900414		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900414G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2149G>A	10.37:g.103900414G>A	ENSP00000278070:p.Asp717Asn					PPRC1_ENST00000413464.2_Missense_Mutation_p.D717N	p.D717N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2188	+		Colorectal(252;0.122)	717					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2149G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820351	0.50633	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.36157	1.37;1.27	5.1	4.19	0.49359	.	1.330770	0.04964	N	0.462526	T	0.30916	0.0780	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.19745	-1.0296	10	0.30078	T	0.28	.	12.6074	0.56531	0.0811:0.0:0.9189:0.0	.	717;597;717	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	717	ENSP00000278070:D717N;ENSP00000399743:D717N	ENSP00000278070:D717N	D	+	1	0	PPRC1	103890404	0.021000	0.18746	0.068000	0.19968	0.727000	0.41649	2.100000	0.41777	1.506000	0.48736	0.561000	0.74099	GAC		0.537	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		4	96	0	0	0	1	0	4	96					A	103900414	G	A	103900414	3	1	314	1	0	0	0	0	1	0	0	0	12410	1174	41	2	2167	2	PPRC1	10	103900414	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10151228	103900414	31634333	30	31839											
DCHS1	8642	broad.mit.edu	37	chr11	6654108	6654108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccagcagcacacgcacccGagctacagcgaaagctgggg	12	14	0	0	rs139750490		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6654108G>A	ENST00000299441.3	-	6	3046	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	879	Cadherin 8. {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)		ACACGCACCCGAGCTACAGCG	0.597																																						ENST00000299441.3																			0				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						c.(2635-2637)Cgg>Tgg		dachsous cadherin-related 1		G	TRP/ARG	0,4402		0,0,2201	127	110	116		2635	4.7	1	11	dbSNP_134	116	1,8591	1.2+/-3.3	0,1,4295	no	missense	DCHS1	NM_003737.2	101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	879/3299	6654108	1,12993	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6654108G>A	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.2635C>T	11.37:g.6654108G>A	ENSP00000299441:p.Arg879Trp					RP11-732A19.6_ENST00000526633.1_RNA	p.R879W	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3046	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	879			Cadherin 8.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2635C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330573	0.60743	0.0	1.16E-4	ENSG00000166341	ENST00000299441	T	0.53206	0.63	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000494	T	0.61160	0.2325	L	0.41079	1.255	0.50813	D	0.999891	D	0.89917	1.0	D	0.85130	0.997	T	0.62964	-0.6742	10	0.59425	D	0.04	.	17.1878	0.86871	0.0:0.0:1.0:0.0	.	879	Q96JQ0	PCD16_HUMAN	W	879	ENSP00000299441:R879W	ENSP00000299441:R879W	R	-	1	2	DCHS1	6610684	0.998000	0.40836	1.000000	0.80357	0.890000	0.51754	5.483000	0.66838	2.607000	0.88179	0.462000	0.41574	CGG		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	38	0	0	0	1	0	7	38					A	6654108	G	A	6654108	3	1	314	1	0	0	0	0	1	0	0	0	4287	1057	37	1	7325	1	DCHS1	11	6654108	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		6654108	128352408	31	31840											
IGSF22	283284	broad.mit.edu	37	chr11	18739488	18739488	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactcatacccagcactgtGagctctgcactcatccgctt	6	17	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:18739488G>A	ENST00000513874.1	-	9	1102	c.963C>T	c.(961-963)ctC>ctT	p.L321L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	321	Ig-like 2.									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						CCAGCACTGTGAGCTCTGCAC	0.542																																						ENST00000513874.1																			0				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						c.(961-963)ctC>ctT		immunoglobulin superfamily, member 22							130	132	131					11																	18739488		2119	4233	6352	SO:0001819	synonymous_variant	283284							g.chr11:18739488G>A	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.963C>T	11.37:g.18739488G>A						RP11-1081L13.4_ENST00000527285.1_RNA	p.L321L	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			9	1102	-			321			Ig-like 2.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.963C>T	CCDS41625.2																																																																																				0.542	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		15	69	0	0	0	1	0	15	69					A	18739488	G	A	18739488	2	1	314	1	0	0	0	0	0	0	0	1	7600	1277	45	2		2	IGSF22	11	18739488	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	12085380	18739488	116267028	32	31841											
TECTA	7007	broad.mit.edu	37	chr11	120996422	120996422	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctctgtgggagtgtggcActgtcgtggaccccactgct	14	13	1	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:120996422A>G	ENST00000392793.1	+	8	1886	c.1615A>G	c.(1615-1617)Act>Gct	p.T539A	TECTA_ENST00000264037.2_Missense_Mutation_p.T539A			O75443	TECTA_HUMAN	tectorin alpha	539	VWFD 1. {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)		GGAGTGTGGCACTGTCGTGGA	0.592																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				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						c.(1615-1617)Act>Gct		tectorin alpha							139	138	138					11																	120996422		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996422A>G	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.1615A>G	11.37:g.120996422A>G	ENSP00000376543:p.Thr539Ala					TECTA_ENST00000264037.2_Missense_Mutation_p.T539A	p.T539A			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1886	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	539			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1615A>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	3.518	-0.098427	0.07010	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.75260	-0.92;-0.92	4.91	2.14	0.27477	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.191158	0.44483	D	0.000447	T	0.31167	0.0788	N	0.00471	-1.455	0.31557	N	0.658054	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	10	0.06494	T	0.89	.	3.4871	0.07624	0.2786:0.0:0.1543:0.5671	.	539	O75443	TECTA_HUMAN	A	539	ENSP00000376543:T539A;ENSP00000264037:T539A	ENSP00000264037:T539A	T	+	1	0	TECTA	120501632	0.994000	0.37717	0.962000	0.40283	0.904000	0.53231	2.143000	0.42187	0.781000	0.33589	0.460000	0.39030	ACT		0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		7	176	0	0	0	1	0	7	176					G	120996422	A	G	120996422	3	3	314	1	0	0	0	0	1	0	0	0	15744	159	6	3	1641	3	TECTA	11	120996422	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	102256934	120996422	14010094	33	31842											
HSPA8	3312	broad.mit.edu	37	chr11	122931899	122931899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcaaccgttcagtgtccGtaaaggcgacatagcttgga	11	10	2	0	rs201477863		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:122931899G>A	ENST00000532636.1	-	2	253	c.134C>T	c.(133-135)aCg>aTg	p.T45M	HSPA8_ENST00000526110.1_Missense_Mutation_p.T45M|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.T45M|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.T45M|HSPA8_ENST00000533540.1_Missense_Mutation_p.T45M|HSPA8_ENST00000534624.1_Missense_Mutation_p.T45M|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	45					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)		TTCAGTGTCCGTAAAGGCGAC	0.463																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(133-135)aCg>aTg		heat shock 70kDa protein 8							96	79	85					11																	122931899		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931899G>A	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.134C>T	11.37:g.122931899G>A	ENSP00000437125:p.Thr45Met					HSPA8_ENST00000526110.1_Missense_Mutation_p.T45M|HSPA8_ENST00000533540.1_Missense_Mutation_p.T45M|HSPA8_ENST00000532636.1_Missense_Mutation_p.T45M|HSPA8_ENST00000227378.3_Missense_Mutation_p.T45M|HSPA8_ENST00000453788.2_Missense_Mutation_p.T45M	p.T45M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	2	410	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	45					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.134C>T	CCDS8440.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.27	3.586679	0.66105	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04194	5.33;5.33;5.33;5.33;5.33;5.33;3.68;5.33;5.33;5.33;5.33;5.33;5.33	4.42	3.51	0.40186	.	0.115681	0.56097	N	0.000024	T	0.37019	0.0988	H	0.99545	4.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;P;P;D	0.71870	0.958;0.975;0.891;0.825;0.975	T	0.61247	-0.7101	10	0.87932	D	0	-11.1178	12.3265	0.55013	0.0828:0.0:0.9172:0.0	.	45;45;45;45;45	B4DTX2;Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;.;HSP7C_HUMAN	M	45	ENSP00000437125:T45M;ENSP00000437189:T45M;ENSP00000432083:T45M;ENSP00000404372:T45M;ENSP00000227378:T45M;ENSP00000433584:T45M;ENSP00000436762:T45M;ENSP00000435154:T45M;ENSP00000431641:T45M;ENSP00000436183:T45M;ENSP00000434415:T45M;ENSP00000434565:T45M;ENSP00000434851:T45M	ENSP00000227378:T45M	T	-	2	0	HSPA8	122437109	1.000000	0.71417	0.436000	0.26797	0.725000	0.41563	7.860000	0.86993	0.967000	0.38186	0.484000	0.47621	ACG		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			3	43	0	0	0	1	0	3	43					A	122931899	G	A	122931899	3	1	314	1	0	0	0	0	1	0	0	0	7416	1145	40	1	1838	1	HSPA8	11	122931899	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	1935477	122931899	12074617	34	31843											
STRAP	11171	broad.mit.edu	37	chr12	16050900	16050900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaatttcttgttgcaggCggtgaagattttaaacttta	9	4	1	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:16050900C>T	ENST00000419869.2	+	7	1036	c.723C>T	c.(721-723)ggC>ggT	p.G241G	STRAP_ENST00000025399.6_Silent_p.G254G|STRAP_ENST00000538352.1_Silent_p.G147G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	241					maintenance of gastrointestinal epithelium (GO:0030277)|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 pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTGTTGCAGGCGGTGAAGATT	0.343																																						ENST00000419869.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15						c.(721-723)ggC>ggT		serine/threonine kinase receptor associated protein							58	67	64					12																	16050900		2203	4298	6501	SO:0001819	synonymous_variant	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16050900C>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.723C>T	12.37:g.16050900C>T						STRAP_ENST00000538352.1_Silent_p.G147G|STRAP_ENST00000025399.6_Silent_p.G254G	p.G241G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN			7	1036	+		Hepatocellular(102;0.121)	241					B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	ENST00000419869.2	37	c.723C>T	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	T	9.219	1.032865	0.19590	.	.	ENSG00000023734	ENST00000538718	.	.	.	4.64	3.48	0.39840	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46442	-0.9191	4	.	.	.	-24.543	6.734	0.23399	0.0:0.0785:0.1521:0.7694	.	.	.	.	W	8	.	.	R	+	1	2	STRAP	15942167	0.979000	0.34478	1.000000	0.80357	0.986000	0.74619	0.038000	0.13862	0.372000	0.24591	-0.269000	0.10298	CGG		0.343	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		19	34	0	0	0	1	0	19	34					T	16050900	C	T	16050900	2	4	314	1	0	0	0	0	0	0	0	1	15325	755	27	1		1	STRAP	12	16050900	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		16050900	117800995	35	31844											
OBFC2B	79035	broad.mit.edu	37	chr12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatccccctcatactcccTcccacccacccagcacccga	2	25	1	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:56622875T>C	ENST00000380198.2	+	6	1012	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	SLC39A5_ENST00000454355.2_5'Flank|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P|SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000341463.5_Missense_Mutation_p.S172P			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	172	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										TCATACTCCCTCCCACCCACC	0.597																																						ENST00000380198.2																			0											c.(514-516)Tcc>Ccc		nucleic acid binding protein 2							22	25	24					12																	56622875		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56622875T>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.514T>C	12.37:g.56622875T>C	ENSP00000369545:p.Ser172Pro					NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P	p.S172P							6	1012	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.514T>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	T	9.637	1.137846	0.21123	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.30448	1.53;1.53;1.53	5.17	-1.86	0.07760	.	0.651280	0.14048	N	0.344943	T	0.12050	0.0293	N	0.15975	0.35	0.21802	N	0.99954	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	9	.	.	.	-13.4254	2.1112	0.03703	0.1502:0.3954:0.155:0.2994	.	172	Q9BQ15	SOSB1_HUMAN	P	172	ENSP00000267023:S172P;ENSP00000369545:S172P;ENSP00000368862:S172P	.	S	+	1	0	OBFC2B	54909142	0.001000	0.12720	0.094000	0.20943	0.304000	0.27724	-0.479000	0.06567	-0.156000	0.11079	-0.313000	0.08912	TCC		0.597	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		5	15	0	0	0	1	0	5	15					C	56622875	T	C	56622875	3	2	314	1	0	0	0	0	1	0	0	0	10809	1551	54	3	536	3	OBFC2B	12	56622875	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	40571975	56622875	77229020	36	31845											
NUAK1	9891	broad.mit.edu	37	chr12	106477695	106477695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcttcaagtcccggtGgaccacaccgttctgaaatg	9	13	2	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:106477695G>T	ENST00000261402.2	-	4	1905	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AAGTCCCGGTGGACCACACCG	0.498																																						ENST00000261402.2																			0				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						c.(526-528)Cac>Aac		NUAK family, SNF1-like kinase, 1							108	95	99					12																	106477695		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106477695G>T	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.526C>A	12.37:g.106477695G>T	ENSP00000261402:p.His176Asn						p.H176N	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			4	1905	-			176			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.526C>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797131	0.90538	.	.	ENSG00000074590	ENST00000261402;ENST00000359413;ENST00000548902	T;T	0.66099	-0.19;-0.19	5.38	5.38	0.77491	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	0.000017	D	0.86908	0.6046	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91243	0.5023	10	0.87932	D	0	.	19.1645	0.93548	0.0:0.0:1.0:0.0	.	176	O60285	NUAK1_HUMAN	N	176;176;45	ENSP00000261402:H176N;ENSP00000448288:H45N	ENSP00000261402:H176N	H	-	1	0	NUAK1	105001825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.532000	0.85374	0.650000	0.86243	CAC		0.498	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		4	63	1	0	0.000602214	1	0.000612251	4	63					T	106477695	G	T	106477695	3	4	314	1	0	0	0	0	1	0	0	0	10712	1348	47	4	1475	4	NUAK1	12	106477695	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	49854820	106477695	27374200	37	31846											
PRR14	78994	broad.mit.edu	37	chr16	30666113	30666113	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaccccacagcccccAcccccgtcccccccaatgaa	3	23	0	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:30666113A>C	ENST00000542965.2	+	7	1278	c.822A>C	c.(820-822)ccA>ccC	p.P274P	PRR14_ENST00000300835.4_Silent_p.P274P			Q9BWN1	PRR14_HUMAN	proline rich 14	274	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CACAGCCCCCACCCCCGTCCC	0.652																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(820-822)ccA>ccC		proline rich 14							13	14	14					16																	30666113		2196	4297	6493	SO:0001819	synonymous_variant	78994							g.chr16:30666113A>C	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.822A>C	16.37:g.30666113A>C						PRR14_ENST00000300835.4_Silent_p.P274P	p.P274P			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1278	+			274			Pro-rich.		Q8WTX2	Silent	SNP	ENST00000542965.2	37	c.822A>C	CCDS10687.1																																																																																				0.652	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		4	21	0	0	0	1	0	4	21					C	30666113	A	C	30666113	2	2	314	1	0	0	0	0	0	0	0	1	12586	146	6	5		5	PRR14	16	30666113	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		30666113	59688640	38	31847											
CTCF	10664	broad.mit.edu	37	chr16	67663410	67663410	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagaaaaagaaagatgcgctCtaagaaagaagattcctctg	9	6	2	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67663410C>G	ENST00000264010.4	+	10	2255	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CTCF_ENST00000401394.1_Missense_Mutation_p.S276C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	604					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)		AAGATGCGCTCTAAGAAAGAA	0.448																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				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						c.(1810-1812)tCt>tGt		CCCTC-binding factor (zinc finger protein)							175	160	165					16																	67663410		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663410C>G	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.1811C>G	16.37:g.67663410C>G	ENSP00000264010:p.Ser604Cys					CTCF_ENST00000401394.1_Missense_Mutation_p.S276C	p.S604C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	10	2255	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	604					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1811C>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325131	0.60634	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09630	2.96;3.02	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	T	0.19846	0.0477	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.62365	0.991;0.983	P;P	0.58454	0.839;0.615	T	0.00688	-1.1609	10	0.56958	D	0.05	-3.0856	19.0839	0.93194	0.0:1.0:0.0:0.0	.	276;604	B5MC38;P49711	.;CTCF_HUMAN	C	604;276	ENSP00000264010:S604C;ENSP00000384707:S276C	ENSP00000264010:S604C	S	+	2	0	CTCF	66220911	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	2.844000	0.48246	2.625000	0.88918	0.313000	0.20887	TCT		0.448	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		6	55	0	0	0	1	0	6	55					G	67663410	C	G	67663410	3	3	314	1	0	0	0	0	1	0	0	0	4000	913	32	4	1841	4	CTCF	16	67663410	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	36997297	67663410	22691343	39	31848											
TSNAXIP1	80152	broad.mit.edu	37	chr16	67860104	67860104	+	IGR	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagatgctggctgagggcaaGaacagcgaccagctggtgga	16	9	0	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67860104G>C	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.K344N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K329N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K398N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGAGGGCAAGAACAGCGACC	0.637																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(1030-1032)aaG>aaC		translin-associated factor X interacting protein 1							50	53	52					16																	67860104		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67860104G>C	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67860104G>C						TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K329N|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K398N	p.K344N	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	10	1409	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	344					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1032G>C	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314186	0.60414	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.95	3.68	0.42216	.	0.067810	0.64402	D	0.000013	T	0.70254	0.3203	M	0.62723	1.935	0.36167	D	0.848538	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	0.999;0.999;0.999;0.999;0.999;0.999	T	0.77544	-0.2548	9	0.72032	D	0.01	-39.8728	10.3953	0.44196	0.2238:0.0:0.7762:0.0	.	329;398;134;52;344;329	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	N	329;344;134	.	ENSP00000373485:K344N	K	+	3	2	TSNAXIP1	66417605	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.359000	0.34113	1.526000	0.49068	0.655000	0.94253	AAG		0.637	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		3	56	0	0	0	1	0	3	56					C	67860104	G	C	67860104	1	2	314	0	1	0	0	0	0	0	0	0	16629	933	33	4		4	TSNAXIP1	16	67860104	IGR	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	196694	67860104	22494649	40	31849											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	7	0	0	0	1	0	24	7					A	7577121	G	A	7577121	3	1	314	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		7577121	73618089	41	31850											
KRI1	65095	broad.mit.edu	37	chr19	10670353	10670353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcatccttacggcgcacgGaggacgcgatgctgcgtggg	16	12	1	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:10670353G>A	ENST00000312962.6	-	11	996	c.977C>T	c.(976-978)tCc>tTc	p.S326F	KRI1_ENST00000361821.5_Missense_Mutation_p.S322F|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	320	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGGCGCACGGAGGACGCGAT	0.622																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(976-978)tCc>tTc		KRI1 homolog (S. cerevisiae)							87	85	86					19																	10670353		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10670353G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.977C>T	19.37:g.10670353G>A	ENSP00000320917:p.Ser326Phe					KRI1_ENST00000361821.5_Missense_Mutation_p.S322F	p.S326F	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		11	996	-			326			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.977C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679151	0.68042	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.14022	2.72;2.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	M	0.90595	3.13	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56757	-0.7926	10	0.66056	D	0.02	-29.3114	17.6015	0.88026	0.0:0.0:1.0:0.0	.	326;322	Q8N9T8;D3YTE0	KRI1_HUMAN;.	F	326;322;326	ENSP00000320917:S326F;ENSP00000355366:S322F	ENSP00000320917:S326F	S	-	2	0	KRI1	10531353	1.000000	0.71417	0.986000	0.45419	0.153000	0.21895	8.523000	0.90576	2.458000	0.83093	0.591000	0.81541	TCC		0.622	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		13	45	0	0	0	1	0	13	45					A	10670353	G	A	10670353	3	1	314	1	0	0	0	0	1	0	0	0	8444	1174	41	2	1188	2	KRI1	19	10670353	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		10670353	48458630	42	31851											
NUCB1	4924	broad.mit.edu	37	chr19	49422370	49422370	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgcgcatgcgggagcatgtGatgaagaatgtgaggtgggg	19	5	0	4			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:49422370G>T	ENST00000405315.4	+	9	1234	c.900G>T	c.(898-900)gtG>gtT	p.V300V	NUCB1_ENST00000263273.5_Silent_p.V300V|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Silent_p.V300V|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	300	Binds to GNAI2 and GNAI3. {ECO:0000250}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.			HV -> QL (in Ref. 1; AAA36383). {ECO:0000305}.		endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGCATGTGATGAAGAATG	0.622																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(898-900)gtG>gtT		nucleobindin 1							44	48	46					19																	49422370		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422370G>T	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.900G>T	19.37:g.49422370G>T						NUCB1_ENST00000263273.5_Silent_p.V300V|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Silent_p.V300V	p.V300V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	9	1234	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	300	HV -> QL (in Ref. 1; AAA36383).		Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.900G>T	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560249	0.27827	.	.	ENSG00000104805	ENST00000424608	.	.	.	5.01	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.989	0.36012	0.0:0.2936:0.5561:0.1503	.	.	.	.	L	270	.	.	X	+	2	2	NUCB1	54114182	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.401000	0.20948	1.228000	0.43614	0.591000	0.81541	TGA		0.622	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		4	39	1	0	0.000602214	1	0.000612251	4	39					T	49422370	G	T	49422370	2	4	314	1	0	0	0	0	0	0	0	1	10718	1277	45	4		4	NUCB1	19	49422370	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	38752017	49422370	9706613	43	31852											
NLRP8	126205	broad.mit.edu	37	chr19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatctcttgatagagcGtttccctggacgacgcgctt	11	11	2	2	rs149738419		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		TTGATAGAGCGTTTCCCTGGA	0.512																																						ENST00000291971.3																			0				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						c.(271-273)cGt>cAt		NLR family, pyrin domain containing 8		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	117	107	111		272	-1.3	0	19	dbSNP_134	111	0,8600		0,0,4300	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1049	56459540	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459540G>A	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.272G>A	19.37:g.56459540G>A	ENSP00000291971:p.Arg91His					NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	343	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	91			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.272G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781099	0.16120	2.27E-4	0.0	ENSG00000179709	ENST00000291971	T	0.44083	0.93	2.23	-1.29	0.09288	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.11879	0.0289	N	0.03209	-0.39	0.09310	N	1	P;B	0.45634	0.863;0.064	B;B	0.36922	0.236;0.0	T	0.12372	-1.0550	9	0.06365	T	0.9	.	2.9194	0.05764	0.4182:0.2521:0.3298:0.0	.	91;91	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	91	ENSP00000291971:R91H	ENSP00000291971:R91H	R	+	2	0	NLRP8	61151352	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-1.790000	0.01759	-0.408000	0.07565	-0.492000	0.04666	CGT		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		13	27	0	0	0	1	0	13	27					A	56459540	G	A	56459540	3	1	314	1	0	0	0	0	1	0	0	0	10483	1145	40	1	274	1	NLRP8	19	56459540	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	7037170	56459540	2669443	44	31853											
SNRPB	6628	broad.mit.edu	37	chr20	2444499	2444499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagcagccctgccgatcCctgggcccccggcagctcca	11	20	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr20:2444499C>T	ENST00000438552.2	-	4	476	c.314G>A	c.(313-315)gGg>gAg	p.G105E	SNRPB_ENST00000381342.2_Missense_Mutation_p.G105E|SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000339610.6_Missense_Mutation_p.G26E	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	105					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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|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)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCGATCCCTGGGCCCCC	0.587																																						ENST00000339610.6																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(76-78)gGg>gAg		small nuclear ribonucleoprotein polypeptides B and B1							53	64	60					20																	2444499		2191	4281	6472	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr20:2444499C>T		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.314G>A	20.37:g.2444499C>T	ENSP00000412566:p.Gly105Glu					SNRPB_ENST00000438552.2_Missense_Mutation_p.G105E|SNRPB_ENST00000381342.2_Missense_Mutation_p.G105E	p.G26E			P14678	RSMB_HUMAN			5	532	-			105					Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.77G>A	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826141	0.90955	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.45668	0.89;0.89	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.994;0.994	T	0.71108	-0.4688	10	0.87932	D	0	.	16.2693	0.82607	0.0:1.0:0.0:0.0	.	26;105;105;105	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	E	105;105;105;26	ENSP00000370746:G105E;ENSP00000412566:G105E	ENSP00000303591:G105E	G	-	2	0	SNRPB	2392499	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.067000	0.76741	2.711000	0.92665	0.655000	0.94253	GGG		0.587	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			5	135	0	0	0	1	0	5	135					T	2444499	C	T	2444499	3	4	314	1	0	0	0	0	1	0	0	0	14861	623	22	2	439	2	SNRPB	20	2444499	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		2444499	60581021	45	31854											
PIWIL3	440822	broad.mit.edu	37	chr22	25119191	25119191	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatctagtgtttattcGtttcttcaccacaatgaaag	5	7	3	1	rs147640812	byFrequency	TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr22:25119191G>A	ENST00000332271.5	-	19	2706	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R646*|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R646*|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	764	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						GTGTTTATTCGTTTCTTCACC	0.343													g|||	3	0.000599042	0.0	0.0	5008	,	,		21701	0.003		0.0	False		,,,				2504	0.0					ENST00000332271.5																			0				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						c.(2290-2292)Cga>Tga		piwi-like RNA-mediated gene silencing 3		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	105	98	100		2290	0.6	1	22	dbSNP_134	100	0,8598		0,0,4299	yes	stop-gained	PIWIL3	NM_001008496.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		764/883	25119191	2,13002	2203	4299	6502	SO:0001587	stop_gained	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25119191G>A	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.2290C>T	22.37:g.25119191G>A	ENSP00000330031:p.Arg764*					PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R646*|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R646*	p.R764*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			19	2706	-			764			Piwi.			Nonsense_Mutation	SNP	ENST00000332271.5	37	c.2290C>T	CCDS33623.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	41	8.965193	0.99019	4.54E-4	0.0	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.72	0.62	0.17637	.	0.068680	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3667	2.474	0.04571	0.2723:0.0:0.4925:0.2353	.	.	.	.	X	764;646;646	.	ENSP00000330031:R764X	R	-	1	2	PIWIL3	23449191	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	1.373000	0.34272	0.239000	0.21243	0.561000	0.74099	CGA		0.343	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		3	41	0	0	0	1	0	3	41					A	25119191	G	A	25119191	4	1	314	1	0	0	0	0	0	1	0	0	11959	1153	40	1	370	1	PIWIL3	22	25119191	Nonsense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		25119191	26185375	46	31855											
DMD	1756	broad.mit.edu	37	chrX	31747794	31747794	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgattgctggtcttgttTttcaaattttgggcagcggt	11	6	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:31747794T>C	ENST00000357033.4	-	52	7820	c.7614A>G	c.(7612-7614)aaA>aaG	p.K2538K	DMD_ENST00000378677.2_Silent_p.K2534K|DMD_ENST00000474231.1_Silent_p.K78K|DMD_ENST00000343523.2_Silent_p.K78K|DMD_ENST00000541735.1_Silent_p.K78K|DMD_ENST00000359836.1_Silent_p.K78K|DMD_ENST00000378707.3_Silent_p.K78K	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	2538					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)				TGGTCTTGTTTTTCAAATTTT	0.413																																						ENST00000357033.4																			0				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						c.(7612-7614)aaA>aaG		dystrophin							251	211	225					X																	31747794		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31747794T>C	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.7614A>G	X.37:g.31747794T>C						DMD_ENST00000474231.1_Silent_p.K78K|DMD_ENST00000359836.1_Silent_p.K78K|DMD_ENST00000378707.3_Silent_p.K78K|DMD_ENST00000378677.2_Silent_p.K2534K|DMD_ENST00000343523.2_Silent_p.K78K|DMD_ENST00000541735.1_Silent_p.K78K	p.K2538K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			52	7820	-		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)	2538					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.7614A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324328	0.24080	.	.	ENSG00000198947	ENST00000465285	T	0.34859	1.34	5.23	4.03	0.46877	.	0.000000	0.37136	U	0.002225	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09684	-1.0663	6	.	.	.	.	8.0752	0.30712	0.0:0.1622:0.0:0.8378	.	.	.	.	E	267	ENSP00000420046:K267E	.	K	-	1	0	DMD	31657715	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.620000	0.36976	0.695000	0.31675	0.412000	0.27726	AAA		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		48	84	0	0	0	1	0	48	84					C	31747794	T	C	31747794	2	2	314	1	0	0	0	0	0	0	0	1	4580	1838	64	3		3	DMD	23	31747794	Silent	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		31747794	123522766	47	31856											
ATRX	546	broad.mit.edu	37	chrX	76937081	76937081	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaggcttaattttctgttCatcgctgcttccctcaccta	5	14	3	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76937081C>A	ENST00000373344.5	-	9	3881	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1185*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1223	Interaction with DAXX.				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.E1223Q(2)|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						ATTTTCTGTTCATCGCTGCTT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Missense(2)|Unknown(1)	p.E1223Q(2)|p.?(1)	lung(2)|bone(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						c.(3667-3669)Gaa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						135	118	124					X																	76937081		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937081C>A	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.3667G>T	X.37:g.76937081C>A	ENSP00000362441:p.Glu1223*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1185*|ATRX_ENST00000480283.1_5'UTR	p.E1223*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3881	-			1223					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.3667G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	46	12.217587	0.99647	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.357193	0.27064	N	0.021115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-17.2197	11.3762	0.49730	0.0:0.9153:0.0:0.0847	.	.	.	.	X	1223;1185;1150	.	ENSP00000362441:E1223X	E	-	1	0	ATRX	76823737	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.599000	0.61076	2.397000	0.81536	0.513000	0.50165	GAA		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	54	1	0	2.48551e-13	1	2.65993e-13	17	54					A	76937081	C	A	76937081	4	1	314	1	0	0	0	0	0	1	0	0	1208	835	29	4	3919	4	ATRX	23	76937081	Nonsense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	45189287	76937081	78333479	48	31857											
ATRX	546	broad.mit.edu	37	chrX	76939554	76939554	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccttcttaatatcagccaaCacagacttaaaagccttaag	5	11	2	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76939554C>G	ENST00000373344.5	-	9	1408	c.1194G>C	c.(1192-1194)gtG>gtC	p.V398V	ATRX_ENST00000395603.3_Silent_p.V360V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					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						TATCAGCCAACACAGACTTAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1192-1194)gtG>gtC		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						199	209	206					X																	76939554		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939554C>G	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.1194G>C	X.37:g.76939554C>G						ATRX_ENST00000395603.3_Silent_p.V360V|ATRX_ENST00000480283.1_5'UTR	p.V398V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1408	-			398					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1194G>C	CCDS14434.1																																																																																				0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		5	333	0	0	0	1	0	5	333					G	76939554	C	G	76939554	2	3	314	1	0	0	0	0	0	0	0	1	1208	465	17	4		4	ATRX	23	76939554	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	2473	76939554	78331006	49	31858											
GAB3	139716	broad.mit.edu	37	chrX	153906497	153906497	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgtccactcctgttttgtGctctggagagcctgtgtctt	10	12	2	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:153906497G>C	ENST00000369575.3	-	10	1750	c.1719C>G	c.(1717-1719)agC>agG	p.S573R	GAB3_ENST00000424127.2_Missense_Mutation_p.S574R|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	573					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGTTTTGTGCTCTGGAGAG	0.463																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1717-1719)agC>agG		GRB2-associated binding protein 3							199	143	162					X																	153906497		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153906497G>C	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1719C>G	X.37:g.153906497G>C	ENSP00000358588:p.Ser573Arg					GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S574R	p.S573R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			10	1750	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		573					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1719C>G	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598290	0.28445	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.28255	1.62;2.17;1.94	5.17	3.4	0.38934	.	0.392090	0.30383	N	0.009741	T	0.31263	0.0791	M	0.77820	2.39	0.42157	D	0.991588	B;B;B	0.32245	0.181;0.361;0.181	B;B;B	0.26864	0.074;0.074;0.074	T	0.08249	-1.0731	10	0.51188	T	0.08	-3.9335	8.7521	0.34622	0.1906:0.0:0.8094:0.0	.	535;574;573	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	R	573;535;574	ENSP00000358588:S573R;ENSP00000358581:S535R;ENSP00000399588:S574R	ENSP00000358581:S535R	S	-	3	2	GAB3	153559691	1.000000	0.71417	0.199000	0.23439	0.304000	0.27724	4.042000	0.57347	0.416000	0.25844	0.513000	0.50165	AGC		0.463	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		6	101	0	0	0	1	0	6	101					C	153906497	G	C	153906497	3	2	314	1	0	0	0	0	1	0	0	0	6150	1310	46	4	45	4	GAB3	23	153906497	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76966943	153906497	1364063	50	31859											
PPM1J	333926	broad.mit.edu	37	chr1	113257684	113257684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggtcatcggcgcgtcgCagccccccggggctcagctg	16	16	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:113257684C>T	ENST00000309276.6	-	1	415	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PPM1J_ENST00000464951.1_5'UTR|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	80					protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCGCGTCGCAGCCCCCCGG	0.741																																						ENST00000309276.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(238-240)ctG>ctA		protein phosphatase, Mg2+/Mn2+ dependent, 1J							6	7	7					1																	113257684		2076	4119	6195	SO:0001819	synonymous_variant	333926							g.chr1:113257684C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.240G>A	1.37:g.113257684C>T						PPM1J_ENST00000464951.1_5'UTR	p.L80L	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	415	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	80					B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Silent	SNP	ENST00000309276.6	37	c.240G>A	CCDS855.2																																																																																				0.741	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		3	15	0	0	0	1	0	3	15					T	113257684	C	T	113257684	2	4	315	1	0	0	0	0	0	0	0	1	12342	697	25	2		2	PPM1J	1	113257684	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		113257684	135992937	1	31860											
HAO2	51179	broad.mit.edu	37	chr1	119936434	119936434	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcggtcgctgagatcaatCgaaacttggtccagttttcc	11	10	1	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:119936434C>T	ENST00000325945.3	+	8	1100	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_Nonsense_Mutation_p.R356*	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	343	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)		TGAGATCAATCGAAACTTGGT	0.478																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1066-1068)Cga>Tga		hydroxyacid oxidase 2 (long chain)							200	183	189					1																	119936434		2203	4300	6503	SO:0001587	stop_gained	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119936434C>T	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.1027C>T	1.37:g.119936434C>T	ENSP00000316339:p.Arg343*					HAO2_ENST00000325945.3_Nonsense_Mutation_p.R343*|HAO2_ENST00000482991.1_3'UTR	p.R356*	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	9	1349	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	343					Q2TU86|Q5QP00|Q9UJS6	Nonsense_Mutation	SNP	ENST00000325945.3	37	c.1066C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309006	0.40895	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	.	.	.	4.44	2.34	0.29019	.	0.596776	0.17226	N	0.182159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	12.479	0.55831	0.3203:0.6797:0.0:0.0	.	.	.	.	X	356;343	.	.	R	+	1	2	HAO2	119737957	0.059000	0.20769	0.004000	0.12327	0.045000	0.14185	0.809000	0.27168	1.168000	0.42723	0.563000	0.77884	CGA		0.478	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		5	118	0	0	0	1	0	5	118					T	119936434	C	T	119936434	4	4	315	1	0	0	0	0	0	1	0	0	6952	876	31	1	1053	1	HAO2	1	119936434	Nonsense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	6678750	119936434	129314187	2	31861											
TEDDM1	127670	broad.mit.edu	37	chr1	182369551	182369551	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccataggctattttccAcagcctggcacatctttgct	6	14	1	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:182369551A>G	ENST00000367565.1	-	1	200	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	24						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCTATTTTCCACAGCCTGGCA	0.463																																						ENST00000367565.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						c.(70-72)Tgg>Cgg		transmembrane epididymal protein 1							119	111	114					1																	182369551		2203	4300	6503	SO:0001583	missense	127670					integral to membrane		g.chr1:182369551A>G	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.70T>C	1.37:g.182369551A>G	ENSP00000356536:p.Trp24Arg						p.W24R	NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN			1	200	-			24					Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	c.70T>C	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	A	0.285	-0.983905	0.02180	.	.	ENSG00000203730	ENST00000367565	T	0.42131	0.98	5.18	1.51	0.23008	.	0.839951	0.10379	N	0.681795	T	0.28699	0.0711	L	0.39245	1.2	0.26193	N	0.979567	B	0.30605	0.287	B	0.28011	0.085	T	0.21177	-1.0253	10	0.21014	T	0.42	-3.9985	5.315	0.15850	0.682:0.1512:0.1667:0.0	.	24	Q5T9Z0	TEDM1_HUMAN	R	24	ENSP00000356536:W24R	ENSP00000356536:W24R	W	-	1	0	TEDDM1	180636174	0.696000	0.27757	0.782000	0.31804	0.319000	0.28217	0.648000	0.24828	0.423000	0.26033	-0.316000	0.08728	TGG		0.463	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		6	95	0	0	0	1	0	6	95					G	182369551	A	G	182369551	3	3	315	1	0	0	0	0	1	0	0	0	15746	159	6	3	755	3	TEDDM1	1	182369551	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	62433117	182369551	66881070	3	31862											
F13B	2165	broad.mit.edu	37	chr1	197031010	197031010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggttttgtaccctgaagCgcaaccataacgcatgttct	9	10	1	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:197031010C>T	ENST00000367412.1	-	3	398	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(355-357)Gct>Act		coagulation factor XIII, B polypeptide							136	113	121					1																	197031010		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197031010C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.355G>A	1.37:g.197031010C>T	ENSP00000356382:p.Ala119Thr						p.A119T	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	398	-			119			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.355G>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	0.885	-0.727387	0.03158	.	.	ENSG00000143278	ENST00000367412	T	0.65178	-0.14	5.85	-1.28	0.09318	Complement control module (2);Sushi/SCR/CCP (3);	1.225850	0.06381	N	0.715225	T	0.34658	0.0905	N	0.04768	-0.165	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.12268	-1.0554	10	0.18276	T	0.48	.	4.3646	0.11218	0.3183:0.3207:0.0:0.361	.	119	P05160	F13B_HUMAN	T	119	ENSP00000356382:A119T	ENSP00000356382:A119T	A	-	1	0	F13B	195297633	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.804000	0.04535	-0.542000	0.06249	0.655000	0.94253	GCT		0.403	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		4	30	0	0	0	1	0	4	30					T	197031010	C	T	197031010	3	4	315	1	0	0	0	0	1	0	0	0	5341	768	27	1	1670	1	F13B	1	197031010	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	14661459	197031010	52219611	4	31863											
DNMT3A	1788	broad.mit.edu	37	chr2	25468913	25468913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttccggcacttctgccGcacctcgtacaccagccgct	8	17	1	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:25468913G>A	ENST00000264709.3	-	12	1787	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R484W|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R295W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R261W|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	484	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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)					CACTTCTGCCGCACCTCGTAC	0.617			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(1450-1452)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 3 alpha							103	81	89					2																	25468913		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468913G>A		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.1450C>T	2.37:g.25468913G>A	ENSP00000264709:p.Arg484Trp					DNMT3A_ENST00000380746.4_Missense_Mutation_p.R295W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R261W|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R484W	p.R484W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			12	1787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		484			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1450C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144401	0.57044	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.55	4.66	0.58398	.	0.120874	0.52532	N	0.000077	T	0.27384	0.0672	L	0.48642	1.525	0.80722	D	1	P;B	0.34562	0.457;0.034	B;B	0.28638	0.092;0.004	T	0.13522	-1.0506	10	0.72032	D	0.01	-10.1334	7.71	0.28671	0.0844:0.0:0.7554:0.1603	.	484;295	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	W	295;484;484;261	ENSP00000370122:R295W;ENSP00000324375:R484W;ENSP00000264709:R484W;ENSP00000384237:R261W	ENSP00000264709:R484W	R	-	1	2	DNMT3A	25322417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.480000	0.45206	2.608000	0.88229	0.643000	0.83706	CGG		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	93	0	0	0	1	0	4	93					A	25468913	G	A	25468913	3	1	315	1	0	0	0	0	1	0	0	0	4676	1086	38	1	1336	1	DNMT3A	2	25468913	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		25468913	217730460	5	31864											
DPYSL5	56896	broad.mit.edu	37	chr2	27164854	27164854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaccgttttgtggccGttaccagttccaacgcagct	10	11	0	1	rs41288787		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:27164854G>A	ENST00000288699.6	+	10	1284	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V376I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	376					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTGTGGCCGTTACCAGTTC	0.542											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		20109	0.0		0.001	False		,,,				2504	0.0					ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1126-1128)Gtt>Att		dihydropyrimidinase-like 5							159	152	154					2																	27164854		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27164854G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1126G>A	2.37:g.27164854G>A	ENSP00000288699:p.Val376Ile		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V376I	p.V376I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			10	1284	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		376					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1126G>A	CCDS1730.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.54	2.862658	0.51482	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90069	-2.61;-2.61	5.32	5.32	0.75619	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.057230	0.64402	D	0.000001	D	0.84433	0.5471	L	0.46614	1.455	0.40878	D	0.983972	B	0.11235	0.004	B	0.26864	0.074	T	0.78765	-0.2076	10	0.33940	T	0.23	-22.5976	8.5514	0.33453	0.1662:0.0:0.8338:0.0	rs41288787	376	Q9BPU6	DPYL5_HUMAN	I	376	ENSP00000288699:V376I;ENSP00000385549:V376I	ENSP00000288699:V376I	V	+	1	0	DPYSL5	27018358	1.000000	0.71417	0.366000	0.25914	0.945000	0.59286	6.581000	0.74045	2.667000	0.90743	0.561000	0.74099	GTT		0.542	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		4	168	0	0	0	1	0	4	168					A	27164854	G	A	27164854	3	1	315	1	0	0	0	0	1	0	0	0	4750	1145	40	1	1160	1	DPYSL5	2	27164854	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	1695941	27164854	216034519	6	31865											
RASGRP3	25780	broad.mit.edu	37	chr2	33745641	33745641	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactggattctgaagtttccTgcagagtttaatttggatct	9	6	2	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:33745641T>G	ENST00000403687.3	+	6	998	c.258T>G	c.(256-258)ccT>ccG	p.P86P	RASGRP3_ENST00000402538.3_Silent_p.P86P|RASGRP3_ENST00000407811.1_Silent_p.P86P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	86	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGAAGTTTCCTGCAGAGTTTA	0.398																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(256-258)ccT>ccG		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							280	270	273					2																	33745641		1856	4093	5949	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745641T>G	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.258T>G	2.37:g.33745641T>G						RASGRP3_ENST00000402538.3_Silent_p.P86P|RASGRP3_ENST00000407811.1_Silent_p.P86P	p.P86P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	998	+	all_hematologic(175;0.115)		86			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.258T>G	CCDS46256.1																																																																																				0.398	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		9	208	0	0	0	1	0	9	208					G	33745641	T	G	33745641	2	3	315	1	0	0	0	0	0	0	0	1	13076	1567	55	5		5	RASGRP3	2	33745641	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	6580787	33745641	209453732	7	31866											
WDR92	116143	broad.mit.edu	37	chr2	68365875	68365875	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagaatgtactttaccCcatttttgatgtttgtctcc	6	11	2	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:68365875C>T	ENST00000295121.6	-	5	748	c.632G>A	c.(631-633)gGg>gAg	p.G211E	WDR92_ENST00000409164.1_Splice_Site_p.G211E|WDR92_ENST00000406245.2_Splice_Site_p.G110E|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	211					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						GTACTTTACCCCATTTTTGAT	0.393																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.e5+1		WD repeat domain 92							184	189	187					2																	68365875		2203	4300	6503	SO:0001630	splice_region_variant	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68365875C>T	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.633+1G>A	2.37:g.68365875C>T						WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Splice_Site_p.G211_splice|WDR92_ENST00000406245.2_Splice_Site_p.G110_splice	p.G211_splice	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			5	748	-			211					Q96CR6	Splice_Site	SNP	ENST00000295121.6	37	c.633_splice	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.339638|5.339638	0.95783|0.95783	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	T;T;T|T	0.65732|0.70986	1.55;1.55;-0.17|-0.53	6.03|6.03	6.03|6.03	0.97812|0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.89206|0.89206	0.6649|0.6649	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90732|0.90732	0.4643|0.4643	10|8	0.66056|0.87932	D|D	0.02|0	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211|.	Q96MX6|.	WDR92_HUMAN|.	E|R	211;110;211|15	ENSP00000295121:G211E;ENSP00000384518:G110E;ENSP00000386746:G211E|ENSP00000410301:G15R	ENSP00000295121:G211E|ENSP00000410301:G15R	G|G	-|-	2|1	0|0	WDR92|WDR92	68219379|68219379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	7.605000|7.605000	0.82844|0.82844	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.393	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	Missense_Mutation	4	134	0	0	0	1	0	4	134					T	68365875	C	T	68365875	5	4	315	1	0	0	0	0	0	0	1	0	17336	637	22	2	457	2	WDR92	2	68365875	Splice_Site	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	34620234	68365875	174833498	8	31867											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	44	0	0	0	1	0	10	44					T	209113112	C	T	209113112	3	4	315	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	140747237	209113112	34086261	9	31868											
VIL1	7429	broad.mit.edu	37	chr2	219293033	219293033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatccagtggaatggaccGgaaagcacccgtatggagag	13	9	1	1	rs375941888		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219293033G>A	ENST00000248444.5	+	6	628	c.540G>A	c.(538-540)ccG>ccA	p.P180P	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P180P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	180	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.P180P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAATGGACCGGAAAGCACCC	0.572																																						ENST00000248444.5																			1	Substitution - coding silent(1)	p.P180P(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(538-540)ccG>ccA		villin 1		G		0,4406		0,0,2203	112	106	108		540	-9.7	0	2		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		180/828	219293033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219293033G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.540G>A	2.37:g.219293033G>A						VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P180P	p.P180P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	628	+		Renal(207;0.0474)	180			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.540G>A	CCDS2417.1																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		4	62	0	0	0	1	0	4	62					A	219293033	G	A	219293033	2	1	315	1	0	0	0	0	0	0	0	1	17161	1103	39	1		1	VIL1	2	219293033	Silent	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	10179921	219293033	23906340	10	31869											
VIL1	7429	broad.mit.edu	37	chr2	219299258	219299258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcagggaggcaccTcccgaactaacaacttggag	10	14	1	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219299258T>C	ENST00000248444.5	+	14	1598	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	VIL1_ENST00000392114.2_Missense_Mutation_p.S193P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	504	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGGCACCTCCCGAACTAA	0.607																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1510-1512)Tcc>Ccc		villin 1							65	65	65					2																	219299258		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299258T>C	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1510T>C	2.37:g.219299258T>C	ENSP00000248444:p.Ser504Pro					VIL1_ENST00000392114.2_Missense_Mutation_p.S193P	p.S504P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1598	+		Renal(207;0.0474)	504			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1510T>C	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792143	0.70452	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.18016	2.58;2.58;2.24	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.45216	0.1331	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.53415	-0.8442	10	0.72032	D	0.01	-24.2484	13.6306	0.62193	0.0:0.0:0.0:1.0	.	504	P09327	VILI_HUMAN	P	504;193;73	ENSP00000248444:S504P;ENSP00000375962:S193P;ENSP00000394030:S73P	ENSP00000248444:S504P	S	+	1	0	VIL1	219007502	0.994000	0.37717	0.999000	0.59377	0.901000	0.52897	3.210000	0.51129	1.810000	0.52873	0.459000	0.35465	TCC		0.607	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		11	85	0	0	0	1	0	11	85					C	219299258	T	C	219299258	3	2	315	1	0	0	0	0	1	0	0	0	17161	1551	54	3	1560	3	VIL1	2	219299258	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	6225	219299258	23900115	11	31870											
WDR69	164781	broad.mit.edu	37	chr2	228770991	228770991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattgtgctgagattagCagtgcctcattcaattggga	12	7	3	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:228770991C>T	ENST00000309931.2	+	9	878	c.795C>T	c.(793-795)agC>agT	p.S265S	DAW1_ENST00000545118.1_Silent_p.S250S|DAW1_ENST00000373666.2_Silent_p.S265S	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	265						cilium (GO:0005929)											CTGAGATTAGCAGTGCCTCAT	0.318																																						ENST00000373666.2																			0											c.(793-795)agC>agT		dynein assembly factor with WDR repeat domains 1							176	178	177					2																	228770991		2203	4299	6502	SO:0001819	synonymous_variant	164781							g.chr2:228770991C>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.795C>T	2.37:g.228770991C>T						DAW1_ENST00000309931.2_Silent_p.S265S|DAW1_ENST00000545118.1_Silent_p.S250S	p.S265S							9	1431	+								Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.795C>T	CCDS2470.1																																																																																				0.318	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		4	75	0	0	0	1	0	4	75					T	228770991	C	T	228770991	2	4	315	1	0	0	0	0	0	0	0	1	17316	709	25	2		2	WDR69	2	228770991	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	9471733	228770991	14428382	12	31871											
NUP210	23225	broad.mit.edu	37	chr3	13363258	13363258	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gagggaggcactgaccaccaGagctgtcttcttcatgctca	11	12	4	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13363258G>C	ENST00000254508.5	-	36	5075	c.4993C>G	c.(4993-4995)Ctg>Gtg	p.L1665V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1665					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)					CTGACCACCAGAGCTGTCTTC	0.582																																						ENST00000254508.5																			0				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						c.(4993-4995)Ctg>Gtg		nucleoporin 210kDa							166	161	163					3																	13363258		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13363258G>C	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.4993C>G	3.37:g.13363258G>C	ENSP00000254508:p.Leu1665Val						p.L1665V	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			36	5075	-	all_neural(104;0.187)		1665					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4993C>G	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011477	0.00422	.	.	ENSG00000132182	ENST00000254508	T	0.05447	3.44	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000004	T	0.04952	0.0133	L	0.43646	1.37	0.46203	D	0.998927	B	0.28512	0.214	B	0.20767	0.031	T	0.11743	-1.0575	10	0.02654	T	1	-16.5418	9.8185	0.40867	0.0726:0.0:0.7879:0.1395	.	1665	Q8TEM1	PO210_HUMAN	V	1665	ENSP00000254508:L1665V	ENSP00000254508:L1665V	L	-	1	2	NUP210	13338258	1.000000	0.71417	0.851000	0.33527	0.045000	0.14185	3.651000	0.54431	1.299000	0.44798	-0.218000	0.12543	CTG		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		72	175	0	0	0	1	0	72	175					C	13363258	G	C	13363258	3	2	315	1	0	0	0	0	1	0	0	0	10760	933	33	4	690	4	NUP210	3	13363258	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		13363258	184659172	13	31872											
FBLN2	2199	broad.mit.edu	37	chr3	13655525	13655525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcctccgcgtgcgggcCgagggccagtcgtgtgagtc	18	13	0	1	rs368630493		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13655525C>T	ENST00000295760.7	+	5	1659	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	FBLN2_ENST00000404922.3_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A|FBLN2_ENST00000535798.1_Silent_p.A556A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	530	Anaphylatoxin-like 3. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGTGCGGGCCGAGGGCCAGT	0.597																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1588-1590)gcC>gcT		fibulin 2							47	55	52					3																	13655525		2058	4190	6248	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13655525C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1590C>T	3.37:g.13655525C>T						FBLN2_ENST00000535798.1_Silent_p.A556A|FBLN2_ENST00000295760.7_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A	p.A530A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		5	1709	+			530			Anaphylatoxin-like 3.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1590C>T	CCDS46762.1																																																																																				0.597	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		13	36	0	0	0	1	0	13	36					T	13655525	C	T	13655525	2	4	315	1	0	0	0	0	0	0	0	1	5699	639	23	1		1	FBLN2	3	13655525	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	292267	13655525	184366905	14	31873											
CCBP2	1238	broad.mit.edu	37	chr3	42906981	42906981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggctttcctggctgcCgtgcttggatggcacctggc	14	12	0	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:42906981C>T	ENST00000422265.1	+	3	1162	c.987C>T	c.(985-987)gcC>gcT	p.A329A	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.A329A|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.A329A	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	329	C-terminal cytoplasmic tail.				chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TCCTGGCTGCCGTGCTTGGAT	0.557																																						ENST00000422265.1																			0											c.(985-987)gcC>gcT		atypical chemokine receptor 2							111	91	98					3																	42906981		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906981C>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.987C>T	3.37:g.42906981C>T						ACKR2_ENST00000273145.2_Silent_p.A329A|ACKR2_ENST00000442925.1_Silent_p.A329A|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.A329A	NM_001296.4	NP_001287.2					3	1162	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.987C>T	CCDS2706.1																																																																																				0.557	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		8	100	0	0	0	1	0	8	100					T	42906981	C	T	42906981	2	4	315	1	0	0	0	0	0	0	0	1	2734	639	23	1		1	CCBP2	3	42906981	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	29251456	42906981	155115449	15	31874											
TOMM70A	9868	broad.mit.edu	37	chr3	100096610	100096610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttggctgcattggcaTtgccaataagcaggtagaag	13	7	0	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:100096610T>C	ENST00000284320.5	-	6	1479	c.1031A>G	c.(1030-1032)aAt>aGt	p.N344S		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	344					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGCATTGGCATTGCCAATAAG	0.348																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1030-1032)aAt>aGt		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							183	180	181					3																	100096610		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100096610T>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1031A>G	3.37:g.100096610T>C	ENSP00000284320:p.Asn344Ser						p.N344S	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			6	1479	-			344					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1031A>G	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	T	7.179	0.589130	0.13812	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.53640	0.61	5.96	2.31	0.28768	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.208622	0.56097	N	0.000023	T	0.28333	0.0700	L	0.28115	0.83	0.45118	D	0.998134	B	0.27882	0.192	B	0.19666	0.026	T	0.05257	-1.0896	10	0.14656	T	0.56	-11.762	9.3111	0.37905	0.0:0.206:0.0:0.794	.	344	O94826	TOM70_HUMAN	S	344;237	ENSP00000284320:N344S	ENSP00000284320:N344S	N	-	2	0	TOMM70A	101579300	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	3.818000	0.55678	0.168000	0.19655	-0.351000	0.07748	AAT		0.348	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			26	52	0	0	0	1	0	26	52					C	100096610	T	C	100096610	3	2	315	1	0	0	0	0	1	0	0	0	16359	1493	52	3	823	3	TOMM70A	3	100096610	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	57189629	100096610	97925820	16	31875											
SEC31A	22872	broad.mit.edu	37	chr4	83742201	83742201	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttactgtctgttcccTaagtttatcatacagaaact	4	9	2	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:83742201T>G	ENST00000395310.2	-	26	3654	c.3472A>C	c.(3472-3474)Agg>Cgg	p.R1158R	SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000513858.1_Silent_p.R1005R|SEC31A_ENST00000432794.1_Silent_p.R1171R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000448323.1_Silent_p.R1158R	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)	1158					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)				GTCTGTTCCCTAAGTTTATCA	0.343																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3511-3513)Agg>Cgg		SEC31 homolog A (S. cerevisiae)							198	208	205					4																	83742201		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83742201T>G	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.3472A>C	4.37:g.83742201T>G						SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000395310.2_Silent_p.R1158R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000448323.1_Silent_p.R1158R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000513858.1_Silent_p.R1005R	p.R1171R			O94979	SC31A_HUMAN			27	3674	-		Hepatocellular(203;0.114)	1158					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3511A>C	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	T	9.637	1.138065	0.21123	.	.	ENSG00000138674	ENST00000503937	T	0.70282	-0.47	5.62	4.42	0.53409	.	.	.	.	.	T	0.78541	0.4299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79667	-0.1708	6	0.87932	D	0	-13.4754	11.6974	0.51551	0.0:0.0:0.2815:0.7185	.	.	.	.	F	320	ENSP00000422371:L320F	ENSP00000422371:L320F	L	-	3	2	SEC31A	83961225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.621000	0.36986	0.936000	0.37367	0.533000	0.62120	TTA		0.343	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		43	111	0	0	0	1	0	43	111					G	83742201	T	G	83742201	2	3	315	1	0	0	0	0	0	0	0	1	13998	1521	53	5		5	SEC31A	4	83742201	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		83742201	107412075	17	31876											
TMEM144	55314	broad.mit.edu	37	chr4	159138571	159138571	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactggctgggcaagctcaAggtaattcaagtcaaactag	10	8	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:159138571A>G	ENST00000296529.6	+	5	851	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	TMEM144_ENST00000514558.1_Splice_Site_p.R111G	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	111						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGCAAGCTCAAGGTAATTCAA	0.378																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.e4+1		transmembrane protein 144																																				SO:0001630	splice_region_variant	55314					integral to membrane		g.chr4:159138571A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.332+1A>G	4.37:g.159138571A>G						TMEM144_ENST00000296529.6_Splice_Site_p.R111_splice	p.R111_splice			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	4	2127	+	all_hematologic(180;0.24)	Renal(120;0.0854)	111					D3DP24|Q49A05|Q9NUT3	Splice_Site	SNP	ENST00000296529.6	37	c.332_splice	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193240	0.78902	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.84741	0.0751	9	.	.	.	-18.0538	15.1534	0.72720	1.0:0.0:0.0:0.0	.	111	Q7Z5S9	TM144_HUMAN	G	111	ENSP00000422297:R111G;ENSP00000296529:R111G;ENSP00000422082:R111G;ENSP00000426211:R111G	.	R	+	1	2	TMEM144	159358021	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.626000	0.61269	2.225000	0.72522	0.533000	0.62120	AGG		0.378	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	Missense_Mutation	3	44	0	0	0	1	0	3	44					G	159138571	A	G	159138571	5	3	315	1	0	0	0	0	0	0	1	0	16055	86	3	3	341	3	TMEM144	4	159138571	Splice_Site	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	75396370	159138571	32015705	18	31877											
FLT4	2324	broad.mit.edu	37	chr5	180056949	180056949	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacagccctgttacctgtgaTgtgcaccaggaaggggttgg	14	10	0	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr5:180056949T>A	ENST00000261937.6	-	5	748	c.670A>T	c.(670-672)Atc>Ttc	p.I224F	FLT4_ENST00000393347.3_Missense_Mutation_p.I224F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	224	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTGTGATGTGCACCAGG	0.622																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(670-672)Atc>Ttc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						69	61	63					5																	180056949		2199	4297	6496	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056949T>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.670A>T	5.37:g.180056949T>A	ENSP00000261937:p.Ile224Phe					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F|FLT4_ENST00000393347.3_Missense_Mutation_p.I224F	p.I224F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	748	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	224			Ig-like C2-type 3.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.670A>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216810	0.58452	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78003	-1.14;-1.14;-1.13	5.06	3.89	0.44902	Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76212	0.3956	L	0.47716	1.5	0.42689	D	0.99357	D;D;P;P	0.61697	0.967;0.99;0.864;0.864	P;P;B;B	0.55577	0.606;0.779;0.378;0.378	T	0.73275	-0.4034	9	0.30854	T	0.27	.	6.06	0.19832	0.0:0.0839:0.1655:0.7506	.	224;224;224;224	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	F	224;224;224;34	ENSP00000261937:I224F;ENSP00000377016:I224F;ENSP00000426057:I224F	ENSP00000261937:I224F	I	-	1	0	FLT4	179989555	0.839000	0.29477	0.998000	0.56505	0.898000	0.52572	0.783000	0.26802	2.037000	0.60232	0.459000	0.35465	ATC		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			4	61	0	0	0	1	0	4	61					A	180056949	T	A	180056949	3	1	315	1	0	0	0	0	1	0	0	0	5944	1464	51	5	3533	5	FLT4	5	180056949	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		180056949	858311	19	31878											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		8	89						8	89	---	---	---	---	-	30653496	TGC	-	30653494	7	5	315	1	0	1	0	1	0	0	0	0	8263	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-HT-A5R7-01A-11D-A289-08		30653494	140461573	20	31879											
BRPF3	27154	broad.mit.edu	37	chr6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagctcaaggcggggTgagtggctccctcaagggag	18	9	2	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					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						CAAGGCGGGGTGAGTGGCTCC	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1309-1311)gTg>gGg		bromodomain and PHD finger containing, 3							78	82	81					6																	36169409		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36169409T>G	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.1310T>G	6.37:g.36169409T>G	ENSP00000350267:p.Val437Gly					BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G	p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	1563	+			437					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1310T>G	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	T	0.784	-0.761217	0.02996	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.16196	2.55;2.47;2.47;2.47;2.47;2.36	5.39	0.376	0.16193	.	1.130890	0.06499	N	0.735957	T	0.01870	0.0059	N	0.04508	-0.205	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46091	-0.9216	10	0.22706	T	0.39	.	4.7221	0.12924	0.159:0.4172:0.0:0.4238	.	437;437;437	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	G	437	ENSP00000350267:V437G;ENSP00000345419:V437G;ENSP00000434501:V437G;ENSP00000445352:V437G;ENSP00000387368:V437G;ENSP00000436504:V437G	ENSP00000345419:V437G	V	+	2	0	BRPF3	36277387	0.531000	0.26338	0.547000	0.28179	0.442000	0.32017	0.263000	0.18478	0.117000	0.18138	0.459000	0.35465	GTG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		13	36	0	0	0	1	0	13	36					G	36169409	T	G	36169409	3	3	315	1	0	0	0	0	1	0	0	0	1521	1696	59	5	1312	5	BRPF3	6	36169409	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	5515915	36169409	134945658	21	31880											
KCNK5	8645	broad.mit.edu	37	chr6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggactccttccgtcgccGccgccgcttcttaatggctt	9	15	1	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(781-783)Cgg>Tgg		potassium channel, subfamily K, member 5							80	87	85					6																	39159385		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159385G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.781C>T	6.37:g.39159385G>A	ENSP00000352527:p.Arg261Trp						p.R261W	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1119	-			261					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.781C>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937209	0.73557	.	.	ENSG00000164626	ENST00000359534	T	0.24908	1.83	5.05	3.21	0.36854	.	1.981190	0.02302	N	0.071281	T	0.19967	0.0480	L	0.27053	0.805	0.33933	D	0.642272	D	0.69078	0.997	P	0.53313	0.723	T	0.05649	-1.0872	10	0.72032	D	0.01	.	13.4361	0.61084	0.0:0.0:0.4228:0.5772	.	261	O95279	KCNK5_HUMAN	W	261	ENSP00000352527:R261W	ENSP00000352527:R261W	R	-	1	2	KCNK5	39267363	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.697000	0.54764	0.596000	0.29794	0.561000	0.74099	CGG		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		4	175	0	0	0	1	0	4	175					A	39159385	G	A	39159385	3	1	315	1	0	0	0	0	1	0	0	0	8069	1086	38	1	722	1	KCNK5	6	39159385	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	2989976	39159385	131955682	22	31881											
MED23	9439	broad.mit.edu	37	chr6	131913582	131913582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatgctgtaatgttctcTcttggcactaaaggctgact	8	10	2	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:131913582T>C	ENST00000368068.3	-	25	3596	c.3417A>G	c.(3415-3417)agA>agG	p.R1139R	MED23_ENST00000368060.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000354577.4_Silent_p.R1145R	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1139					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)		TAATGTTCTCTCTTGGCACTA	0.353																																						ENST00000403834.3																			0				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						c.(3433-3435)agA>agG		mediator complex subunit 23							152	139	143					6																	131913582		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131913582T>C	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.3417A>G	6.37:g.131913582T>C						MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.R1139R|MED23_ENST00000354577.4_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000368068.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R	p.R1145R			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	25	3608	-	Breast(56;0.0753)		1139					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.3435A>G	CCDS5147.1																																																																																				0.353	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			18	76	0	0	0	1	0	18	76					C	131913582	T	C	131913582	2	2	315	1	0	0	0	0	0	0	0	1	9441	1548	54	3		3	MED23	6	131913582	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	92754197	131913582	39201485	23	31882											
AKAP9	10142	broad.mit.edu	37	chr7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-													ttggccctgcttgcccggatGggggggcagccagctttcac					rs143306820	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:91732039delG	ENST00000359028.2	+	46	11466	c.11241delG	c.(11239-11241)atgfs	p.M3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCCCGGATGGGGGGGCAGC	0.537			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)atfs		A kinase (PRKA) anchor protein 9							109	116	114					7																	91732039		2203	4300	6503	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732039delG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11241delG	7.37:g.91732039delG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs	p.M3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.11241delG																																																																																					0.537	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	1930						8	1930	---	---	---	---	-	91732039	G	-	91732039	7	5	315	1	0	1	0	1	0	0	0	0	459	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-HT-A5R7-01A-11D-A289-08		91732039	67406624	24	31883											
MUC17	140453	broad.mit.edu	37	chr7	100684757	100684757	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaccacgccagtggtcAgttctgaggctagcaccctt	10	14	3	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:100684757A>T	ENST00000306151.4	+	3	10124	c.10060A>T	c.(10060-10062)Agt>Tgt	p.S3354C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3354	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)					GCCAGTGGTCAGTTCTGAGGC	0.483																																						ENST00000306151.4																			0				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						c.(10060-10062)Agt>Tgt		mucin 17, cell surface associated							295	307	303					7																	100684757		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684757A>T	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.10060A>T	7.37:g.100684757A>T	ENSP00000302716:p.Ser3354Cys						p.S3354C	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10124	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3354			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10060A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	4.635	0.118040	0.08881	.	.	ENSG00000169876	ENST00000306151	T	0.02709	4.19	0.823	0.823	0.18812	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.44421	-0.9329	9	0.56958	D	0.05	.	3.5513	0.07847	0.5848:0.4152:0.0:0.0	.	3354	Q685J3	MUC17_HUMAN	C	3354	ENSP00000302716:S3354C	ENSP00000302716:S3354C	S	+	1	0	MUC17	100471477	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.024000	0.12435	0.166000	0.19597	0.165000	0.16767	AGT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		30	456	0	0	0	1	0	30	456					T	100684757	A	T	100684757	3	4	315	1	0	0	0	0	1	0	0	0	9974	188	7	5	10070	5	MUC17	7	100684757	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	8952718	100684757	58453906	25	31884											
ABP1	26	broad.mit.edu	37	chr7	150553856	150553856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgggaagcccgtgccGtcatcttctttggtgaccag	13	12	3	1	rs577618065		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:150553856G>A	ENST00000493429.1	+	4	882	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	AOC1_ENST00000467291.1_Missense_Mutation_p.V100I|AOC1_ENST00000360937.4_Missense_Mutation_p.V100I|AOC1_ENST00000416793.2_Missense_Mutation_p.V100I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	100					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	AGCCCGTGCCGTCATCTTCTT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.001					ENST00000493429.1																			0											c.(298-300)Gtc>Atc		amine oxidase, copper containing 1							109	107	108					7																	150553856		1983	4159	6142	SO:0001583	missense	26							g.chr7:150553856G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.298G>A	7.37:g.150553856G>A	ENSP00000418614:p.Val100Ile					AOC1_ENST00000467291.1_Missense_Mutation_p.V100I|AOC1_ENST00000360937.4_Missense_Mutation_p.V100I|AOC1_ENST00000416793.2_Missense_Mutation_p.V100I	p.V100I							4	882	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.298G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227597	0.06022	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.32	-4.83	0.03161	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.564860	0.18326	N	0.144636	T	0.16769	0.0403	N	0.16166	0.38	0.21527	N	0.999657	B;B	0.15141	0.012;0.008	B;B	0.18263	0.021;0.009	T	0.30001	-0.9993	10	0.11182	T	0.66	-11.239	13.5265	0.61597	0.6106:0.0:0.3894:0.0	.	100;100	C9J690;P19801	.;ABP1_HUMAN	I	100	ENSP00000418614:V100I;ENSP00000418328:V100I;ENSP00000418557:V100I;ENSP00000354193:V100I;ENSP00000411613:V100I;ENSP00000417392:V100I	ENSP00000354193:V100I	V	+	1	0	ABP1	150184789	0.002000	0.14202	0.002000	0.10522	0.345000	0.29048	-0.049000	0.11924	-0.875000	0.04022	-0.137000	0.14449	GTC		0.582	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		48	80	0	0	0	1	0	48	80					A	150553856	G	A	150553856	3	1	315	1	0	0	0	0	1	0	0	0	98	1145	40	1	300	1	ABP1	7	150553856	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	49869099	150553856	8584807	26	31885											
ARHGEF10	9639	broad.mit.edu	37	chr8	1877527	1877527	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcactcctgagaagtccacAgtcatgagcctggcttgcac	9	13	2	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr8:1877527A>T	ENST00000398564.1	+	25	3072	c.3072A>T	c.(3070-3072)acA>acT	p.T1024T	ARHGEF10_ENST00000518288.1_Silent_p.T1023T|ARHGEF10_ENST00000262112.6_Silent_p.T995T|ARHGEF10_ENST00000349830.3_Silent_p.T999T|ARHGEF10_ENST00000520359.1_Silent_p.T961T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1024				T -> S (in Ref. 6; AAB71662). {ECO:0000305}.	centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAAGTCCACAGTCATGAGCC	0.517																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3067-3069)acA>acT		Rho guanine nucleotide exchange factor (GEF) 10							102	104	103					8																	1877527		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1877527A>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3072A>T	8.37:g.1877527A>T						ARHGEF10_ENST00000349830.3_Silent_p.T999T|ARHGEF10_ENST00000262112.6_Silent_p.T995T|ARHGEF10_ENST00000398564.1_Silent_p.T1024T|ARHGEF10_ENST00000520359.1_Silent_p.T961T	p.T1023T			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	26	3232	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1024					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.3069A>T																																																																																					0.517	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				4	169	0	0	0	1	0	4	169					T	1877527	A	T	1877527	2	4	315	1	0	0	0	0	0	0	0	1	894	175	7	5		5	ARHGEF10	8	1877527	Silent	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08		1877527	144486495	27	31886											
GRHL2	79977	broad.mit.edu	37	chr8	102582593	102582593	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagtgcttcagttggggcTgaggagtacatgtatgatca	15	6	2	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr8:102582593T>G	ENST00000251808.3	+	5	1043	c.705T>G	c.(703-705)gcT>gcG	p.A235A	GRHL2_ENST00000395927.1_Silent_p.A219A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	235					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)			CAGTTGGGGCTGAGGAGTACA	0.343																																						ENST00000251808.3																			0				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						c.(703-705)gcT>gcG		grainyhead-like 2 (Drosophila)							166	165	165					8																	102582593		2203	4300	6503	SO:0001819	synonymous_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102582593T>G	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.705T>G	8.37:g.102582593T>G						GRHL2_ENST00000395927.1_Silent_p.A219A	p.A235A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		5	1043	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		235					A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	c.705T>G	CCDS34931.1																																																																																				0.343	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		5	80	0	0	0	1	0	5	80					G	102582593	T	G	102582593	2	3	315	1	0	0	0	0	0	0	0	1	6764	1567	55	5		5	GRHL2	8	102582593	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	100705066	102582593	43781429	28	31887											
GKAP1	80318	broad.mit.edu	37	chr9	86383805	86383821	+	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	AATAAGAATTTTATGAA	-													tgttctcttcgtttttctctAataagaattttatgaacatc							TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:86383805_86383821delAATAAGAATTTTATGAA	ENST00000376371.2	-	8	1050_1066	c.650_666delTTCATAAAATTCTTATT	c.(649-666)gttcataaaattcttattfs	p.VHKILI217fs	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	217					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GTTTTTCTCTAATAAGAATTTTATGAACATCATCTTC	0.318																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(649-666)gfs		G kinase anchoring protein 1																																				SO:0001589	frameshift_variant	80318				signal transduction	Golgi apparatus		g.chr9:86383805_86383821delAATAAGAATTTTATGAA	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"cGMP-dependent protein kinase anchoring protein 42kDa"	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.650_666delTTCATAAAATTCTTATT	9.37:g.86383805_86383821delAATAAGAATTTTATGAA	ENSP00000365550:p.Val217fs					GKAP1_ENST00000376365.3_Intron	p.VHKILI217fs	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN			8	1050_1066	-			217					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Frame_Shift_Del	DEL	ENST00000376371.2	37	c.650_666delTTCATAAAATTCTTATT	CCDS35049.1																																																																																				0.318	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		8	35						8	35	---	---	---	---	-	86383821	AATAAGAATTTTATGAA	-	86383805	7	5	315	1	0	1	0	1	0	0	0	0	6423	358	13	0	458	0	GKAP1	9	86383805	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	TCGA-HT-A5R7-01A-11D-A289-08		86383805	54829626	29	31888											
S1PR3	1903	broad.mit.edu	37	chr9	91616909	91616909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttcatcctcttcctcaTtgatgtggcctgcagggtgc	9	13	4	1	rs145125543		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:91616909T>C	ENST00000375846.3	+	1	5489	c.794T>C	c.(793-795)aTt>aCt	p.I265T	S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	265					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)	p.I265T(1)		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						CTCTTCCTCATTGATGTGGCC	0.587													T|||	1	0.000199681	0.0	0.0	5008	,	,		19548	0.0		0.001	False		,,,				2504	0.0					ENST00000375846.3																			1	Substitution - Missense(1)	p.I265T(1)	breast(1)	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						c.(793-795)aTt>aCt		sphingosine-1-phosphate receptor 3		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	143	84	104		794	3.8	0.5	9	dbSNP_134	104	5,8595	4.3+/-15.6	0,5,4295	yes	missense	S1PR3	NM_005226.2	89	0,6,6497	CC,CT,TT		0.0581,0.0227,0.0461	benign	265/379	91616909	6,13000	2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616909T>C	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.794T>C	9.37:g.91616909T>C	ENSP00000365006:p.Ile265Thr					S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T	p.I265T			Q99500	S1PR3_HUMAN			1	5489	+			265					Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.794T>C	CCDS6680.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	13.76	2.332439	0.41297	2.27E-4	5.81E-4	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.38722	1.12;1.12	4.98	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.404011	0.25227	N	0.032183	T	0.37376	0.1001	L	0.54965	1.715	0.37791	D	0.927349	P	0.36354	0.549	B	0.34536	0.185	T	0.45293	-0.9271	10	0.87932	D	0	.	10.8493	0.46761	0.0:0.0743:0.0:0.9257	.	265	Q99500	S1PR3_HUMAN	T	265	ENSP00000350878:I265T;ENSP00000365006:I265T	ENSP00000350878:I265T	I	+	2	0	S1PR3	90806729	0.997000	0.39634	0.481000	0.27354	0.912000	0.54170	3.986000	0.56937	1.031000	0.39867	0.379000	0.24179	ATT		0.587	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		4	57	0	0	0	1	0	4	57					C	91616909	T	C	91616909	3	2	315	1	0	0	0	0	1	0	0	0	13795	1493	52	3	796	3	S1PR3	9	91616909	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	5233104	91616909	49596522	30	31889											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651483	1651483	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggggtccaagggggGctgtggctcctgtggggggt	23	7	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:1651483G>C	ENST00000399676.2	+	1	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	138	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G138A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.692																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G138A(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(412-414)gGc>gCc		keratin associated protein 5-5							13	19	17					11																	1651483		2129	4198	6327	SO:0001583	missense	439915					keratin filament		g.chr11:1651483G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.413G>C	11.37:g.1651483G>C	ENSP00000382584:p.Gly138Ala						p.G138A	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	451	+		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)	138			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.413G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.606108	0.00121	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01203	5.18	3.03	2.11	0.27256	.	.	.	.	.	T	0.01695	0.0054	M	0.82823	2.61	0.22601	N	0.998945	B	0.25667	0.131	B	0.19666	0.026	T	0.52366	-0.8585	9	0.02654	T	1	.	6.1318	0.20209	0.1478:0.0:0.8522:0.0	.	138	Q701N2	KRA55_HUMAN	A	138;109	ENSP00000382584:G138A	ENSP00000382584:G138A	G	+	2	0	KRTAP5-5	1608059	1.000000	0.71417	0.411000	0.26484	0.028000	0.11728	2.598000	0.46223	0.497000	0.27926	-0.360000	0.07572	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			4	49	0	0	0	1	0	4	49					C	1651483	G	C	1651483	3	2	315	1	0	0	0	0	1	0	0	0	8564	1203	42	4	415	4	KRTAP5-5	11	1651483	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		1651483	133355033	31	31890											
USH1C	10083	broad.mit.edu	37	chr11	17519815	17519815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtcccctttcacaatgCcacctgcaggcagatgaggc	9	15	2	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:17519815C>T	ENST00000318024.4	-	19	1592	c.1484G>A	c.(1483-1485)gGc>gAc	p.G495D	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.G464D|USH1C_ENST00000527020.1_Missense_Mutation_p.G476D|USH1C_ENST00000005226.7_Missense_Mutation_p.G795D	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	495	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTCACAATGCCACCTGCAGG	0.577																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2383-2385)gGc>gAc		Usher syndrome 1C (autosomal recessive, severe)							213	171	186					11																	17519815		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17519815C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1484G>A	11.37:g.17519815C>T	ENSP00000317018:p.Gly495Asp					USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.G464D|USH1C_ENST00000527020.1_Missense_Mutation_p.G476D|USH1C_ENST00000318024.4_Missense_Mutation_p.G495D	p.G795D	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			24	2383	-			495					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2384G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333229	0.81801	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.50257	0.1605	L	0.50919	1.6	0.42978	D	0.994455	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.97110	0.964;1.0;1.0	T	0.36383	-0.9750	10	0.31617	T	0.26	.	17.6868	0.88258	0.0:1.0:0.0:0.0	.	476;495;795	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	D	495;464;476;795	ENSP00000317018:G495D;ENSP00000432944:G464D;ENSP00000436934:G476D;ENSP00000005226:G795D	ENSP00000005226:G795D	G	-	2	0	USH1C	17476391	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.826000	0.69293	2.466000	0.83321	0.561000	0.74099	GGC		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		4	101	0	0	0	1	0	4	101					T	17519815	C	T	17519815	3	4	315	1	0	0	0	0	1	0	0	0	17031	739	26	2	331	2	USH1C	11	17519815	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	15868332	17519815	117486701	32	31891											
MYEOV	26579	broad.mit.edu	37	chr11	69063311	69063311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagacgtggacgtgtccCgggccaggagggtcacagat	16	10	1	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:69063311C>T	ENST00000308946.3	+	3	844	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000535407.1_Missense_Mutation_p.R74W	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	132										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGACGTGTCCCGGGCCAGGAG	0.617																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(220-222)Cgg>Tgg		myeloma overexpressed							147	142	143					11																	69063311		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063311C>T	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.394C>T	11.37:g.69063311C>T	ENSP00000308330:p.Arg132Trp					MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000308946.3_Missense_Mutation_p.R132W	p.R74W			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	863	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		132					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.220C>T	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165196	0.21538	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.26067	1.77;1.77;1.76	1.4	-0.632	0.11523	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B	0.31241	0.315	B	0.16722	0.016	T	0.19844	-1.0293	9	0.87932	D	0	.	3.8725	0.09042	0.0:0.5246:0.0:0.4754	.	132	Q96EZ4	MYEOV_HUMAN	W	132;132;74	ENSP00000412482:R132W;ENSP00000308330:R132W;ENSP00000438100:R74W	ENSP00000308330:R132W	R	+	1	2	MYEOV	68819887	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.968000	0.01507	-0.218000	0.10018	-0.350000	0.07774	CGG		0.617	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			19	168	0	0	0	1	0	19	168					T	69063311	C	T	69063311	3	4	315	1	0	0	0	0	1	0	0	0	10025	643	23	1	400	1	MYEOV	11	69063311	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	51543496	69063311	65943205	33	31892											
ANO2	57101	broad.mit.edu	37	chr12	5672710	5672710	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaatcatccagtccacgaGgacgctcaggaacatcacga	10	12	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:5672710G>C	ENST00000356134.5	-	27	2826	c.2755C>G	c.(2755-2757)Ctc>Gtc	p.L919V	ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000546188.1_Missense_Mutation_p.L919V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	923					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGTCCACGAGGACGCTCAGG	0.552																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2755-2757)Ctc>Gtc		anoctamin 2							85	79	81					12																	5672710		1966	4163	6129	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5672710G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2755C>G	12.37:g.5672710G>C	ENSP00000348453:p.Leu919Val					ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000356134.5_Missense_Mutation_p.L919V	p.L919V			Q9NQ90	ANO2_HUMAN			26	2826	-			923					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2755C>G		.	.	.	.	.	.	.	.	.	.	G	11.38	1.622208	0.28889	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000543568	T;T;T	0.64618	-0.11;-0.11;-0.11	4.79	4.79	0.61399	.	0.283332	0.31210	N	0.008052	T	0.47619	0.1455	L	0.33293	1	0.47009	D	0.999286	B	0.26975	0.165	B	0.25405	0.06	T	0.45454	-0.9260	10	0.37606	T	0.19	.	8.5691	0.33558	0.085:0.1546:0.7604:0.0	.	918	Q9NQ90-3	.	V	918;919;919;923;6	ENSP00000314048:L918V;ENSP00000348453:L919V;ENSP00000440981:L919V	ENSP00000314048:L918V	L	-	1	0	ANO2	5542971	0.749000	0.28305	0.986000	0.45419	0.943000	0.58893	1.072000	0.30678	2.369000	0.80426	0.555000	0.69702	CTC		0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		9	121	0	0	0	1	0	9	121					C	5672710	G	C	5672710	3	2	315	1	0	0	0	0	1	0	0	0	697	1000	35	4	248	4	ANO2	12	5672710	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		5672710	128179185	34	31893											
NUP107	57122	broad.mit.edu	37	chr12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactgtagttgagaatattcGaaagaaagataatggtgaat	10	2	0	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					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 export from nucleus (GO:0006406)|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 process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1930-1932)cGa>cAa		nucleoporin 107kDa							63	66	65					12																	69125432		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69125432G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1931G>A	12.37:g.69125432G>A	ENSP00000229179:p.Arg644Gln					NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	p.R644Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		22	2263	+	Breast(13;6.25e-06)		644					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1931G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	NUP107	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA		0.353	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		4	47	0	0	0	1	0	4	47					A	69125432	G	A	69125432	3	1	315	1	0	0	0	0	1	0	0	0	10753	1058	37	1	2017	1	NUP107	12	69125432	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	63452722	69125432	64726463	35	31894											
SLC5A8	160728	broad.mit.edu	37	chr12	101577988	101577988	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaatgtccagtaccaAataaggcatgagctgaaaaa	9	7	0	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:101577988A>T	ENST00000536262.2	-	8	1534	c.976T>A	c.(976-978)Ttg>Atg	p.L326M		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTACCAAATAAGGCATG	0.363																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(976-978)Ttg>Atg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							65	63	64					12																	101577988		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101577988A>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.976T>A	12.37:g.101577988A>T	ENSP00000445340:p.Leu326Met						p.L326M	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			8	1534	-			326						Missense_Mutation	SNP	ENST00000536262.2	37	c.976T>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183142	0.57800	.	.	ENSG00000256870	ENST00000536262	D	0.95885	-3.84	5.66	-1.07	0.09968	.	0.073309	0.53938	N	0.000044	D	0.94182	0.8133	L	0.55017	1.72	0.46241	D	0.99894	P	0.42409	0.779	P	0.51974	0.686	D	0.89905	0.4047	10	0.54805	T	0.06	.	6.9652	0.24619	0.4673:0.0:0.4156:0.1171	.	326	Q8N695	SC5A8_HUMAN	M	326	ENSP00000445340:L326M	ENSP00000445340:L326M	L	-	1	2	SLC5A8	100102119	0.408000	0.25360	0.663000	0.29738	0.986000	0.74619	0.190000	0.17057	-0.426000	0.07360	-0.290000	0.09829	TTG		0.363	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		3	29	0	0	0	1	0	3	29					T	101577988	A	T	101577988	3	4	315	1	0	0	0	0	1	0	0	0	14671	11	1	5	888	5	SLC5A8	12	101577988	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32452556	101577988	32273907	36	31895											
KIAA1409	57578	broad.mit.edu	37	chr14	94069684	94069684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgccagaagagtgtacGttccctgagggacagcgtga	13	10	0	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr14:94069684G>A	ENST00000393151.2	+	26	3674	c.3674G>A	c.(3673-3675)cGt>cAt	p.R1225H	UNC79_ENST00000553484.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H|UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1225					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						AAGAGTGTACGTTCCCTGAGG	0.527																																						ENST00000553484.1																			0				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						c.(3673-3675)cGt>cAt		unc-79 homolog (C. elegans)							143	125	131					14																	94069684		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94069684G>A	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.3674G>A	14.37:g.94069684G>A	ENSP00000376858:p.Arg1225His					UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H|UNC79_ENST00000393151.2_Missense_Mutation_p.R1225H	p.R1225H			Q9P2D8	UNC79_HUMAN			26	3828	+			1225					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3674G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771943	0.90108	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.22945	1.96;1.93;2.02;1.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.42245	1.32	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	T	0.30001	-0.9993	10	0.66056	D	0.02	-17.3788	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1225	C9JQL1	.	H	1048;1225;1225;1225;1225	ENSP00000256339:R1048H;ENSP00000450868:R1225H;ENSP00000451360:R1225H;ENSP00000376858:R1225H	ENSP00000256339:R1048H	R	+	2	0	KIAA1409	93139437	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	CGT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	73	0	0	0	1	0	5	73					A	94069684	G	A	94069684	3	1	315	1	0	0	0	0	1	0	0	0	8230	1145	40	1	3233	1	KIAA1409	14	94069684	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		94069684	13279856	37	31896											
C15orf55	256646	broad.mit.edu	37	chr15	34646897	34646897	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggtctcctgagctacatCaatgagctgtgttctcagaa	9	11	3	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:34646897C>A	ENST00000333756.4	+	5	1397	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	NUTM1_ENST00000537011.1_Silent_p.I442I|NUTM1_ENST00000438749.3_Silent_p.I432I	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	414						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGCTACATCAATGAGCTGT	0.527																																						ENST00000537011.1																			0											c.(1324-1326)atC>atA		NUT midline carcinoma, family member 1							201	179	186					15																	34646897		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34646897C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1242C>A	15.37:g.34646897C>A						NUTM1_ENST00000438749.3_Silent_p.I432I|NUTM1_ENST00000333756.4_Silent_p.I414I	p.I442I							6	1708	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1326C>A	CCDS32190.1																																																																																				0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		10	158	1	0	7.03913e-09	1	7.3245e-09	10	158					A	34646897	C	A	34646897	2	1	315	1	0	0	0	0	0	0	0	1	1803	816	29	4		4	C15orf55	15	34646897	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		34646897	67884495	38	31897											
CKMT1A	548596	broad.mit.edu	37	chr15	43991229	43991229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgattgattgtgaacggcGtctggagagaggccaggata	15	5	1	4	rs556793318		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:43991229G>A	ENST00000413453.2	+	9	1720	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	399	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGTGAACGGCGTCTGGAGAGA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19701	0.0		0.0	False		,,,				2504	0.001					ENST00000413453.2																			0				lung(4)	4						c.(1195-1197)cGt>cAt		creatine kinase, mitochondrial 1A	Creatine(DB00148)						172	154	160					15																	43991229		2198	4294	6492	SO:0001583	missense	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43991229G>A	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1196G>A	15.37:g.43991229G>A	ENSP00000406577:p.Arg399His					CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H|STRC_ENST00000541030.1_Intron	p.R399H			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1720	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	399			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	37	c.1196G>A	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981894	0.34942	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.11930	2.73;2.73	3.71	2.78	0.32641	.	0.156324	0.53938	D	0.000043	T	0.25382	0.0617	.	.	.	0.42354	D	0.992385	.	.	.	.	.	.	T	0.01305	-1.1390	7	0.72032	D	0.01	1.9794	9.9787	0.41800	0.103:0.0:0.897:0.0	.	.	.	.	H	430;399;399	ENSP00000413165:R399H;ENSP00000406577:R399H	ENSP00000406577:R399H	R	+	2	0	CKMT1A	41778521	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	3.443000	0.52907	0.520000	0.28426	0.393000	0.25936	CGT		0.493	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			6	137	0	0	0	1	0	6	137					A	43991229	G	A	43991229	3	1	315	1	0	0	0	0	1	0	0	0	3449	1145	40	1	1230	1	CKMT1A	15	43991229	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	9344332	43991229	58540163	39	31898											
MPI	4351	broad.mit.edu	37	chr15	75183769	75183769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagatccttgacaaccGcatctcacagaagaccctaa	6	14	1	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:75183769G>A	ENST00000352410.4	+	3	261	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H			P34949	MPI_HUMAN	mannose phosphate isomerase	65					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTGACAACCGCATCTCACAG	0.552																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(193-195)cGc>cAc		mannose phosphate isomerase							175	153	160					15																	75183769		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75183769G>A		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.194G>A	15.37:g.75183769G>A	ENSP00000318318:p.Arg65His					MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H	p.R65H			P34949	MPI_HUMAN			3	261	+			65					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.194G>A	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980537	0.34942	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.95690	-3.78;-3.78;-3.78	5.07	1.93	0.25924	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.247105	0.39475	N	0.001360	D	0.90631	0.7062	L	0.41356	1.27	0.36302	D	0.857123	B;B;B;B;B	0.15930	0.015;0.013;0.003;0.0;0.004	B;B;B;B;B	0.20955	0.032;0.002;0.002;0.009;0.009	D	0.87316	0.2315	10	0.46703	T	0.11	.	6.3624	0.21435	0.2312:0.1374:0.6314:0.0	.	15;65;65;45;65	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	H	65;15;45;65	ENSP00000318318:R65H;ENSP00000440447:R15H;ENSP00000318192:R65H	ENSP00000318192:R65H	R	+	2	0	MPI	72970822	0.001000	0.12720	0.143000	0.22291	0.620000	0.37586	1.040000	0.30278	1.122000	0.41944	0.462000	0.41574	CGC		0.552	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			4	156	0	0	0	1	0	4	156					A	75183769	G	A	75183769	3	1	315	1	0	0	0	0	1	0	0	0	9729	1087	38	1	204	1	MPI	15	75183769	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	31192540	75183769	27347623	40	31899											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	13	13	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|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 establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(103-105)tGt>tTt		calcium and integrin binding 1 (calmyrin)							49	48	48					15																	90775542		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775542C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.104G>T	15.37:g.90775542C>A	ENSP00000333873:p.Cys35Phe						p.C35F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	265	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		35					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.104G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833964	0.16820	.	.	ENSG00000185043	ENST00000328649	T	0.09073	3.02	5.54	3.54	0.40534	EF-hand-like domain (1);	0.296074	0.39687	N	0.001295	T	0.07143	0.0181	L	0.34521	1.04	0.35816	D	0.824264	B	0.27700	0.186	B	0.33690	0.168	T	0.25117	-1.0141	10	0.11485	T	0.65	-6.3598	10.3555	0.43960	0.1513:0.7031:0.1456:0.0	.	35	Q99828	CIB1_HUMAN	F	35	ENSP00000333873:C35F	ENSP00000333873:C35F	C	-	2	0	CIB1	88576546	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.553000	0.23391	1.543000	0.49345	0.650000	0.86243	TGT		0.587	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			6	38	1	0	6.53348e-20	1	6.89148e-20	6	38					A	90775542	C	A	90775542	3	1	315	1	0	0	0	0	1	0	0	0	3420	478	17	4	491	4	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	15591773	90775542	11755850	41	31900											
GRIN2A	2903	broad.mit.edu	37	chr16	10274071	10274071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagctaccacgttcacGtccaggggcagccccgccgc	12	17	1	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:10274071G>A	ENST00000396573.2	-	3	507	c.198C>T	c.(196-198)gaC>gaT	p.D66D	GRIN2A_ENST00000404927.2_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D|GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	66					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)	CCACGTTCACGTCCAGGGGCA	0.642																																						ENST00000396573.2																			0				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						c.(196-198)gaC>gaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						74	76	75					16																	10274071		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274071G>A		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.198C>T	16.37:g.10274071G>A						GRIN2A_ENST00000404927.2_Silent_p.D66D|GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D	p.D66D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	507	-			66					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.198C>T	CCDS10539.1																																																																																				0.642	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			10	154	0	0	0	1	0	10	154					A	10274071	G	A	10274071	2	1	315	1	0	0	0	0	0	0	0	1	6779	1136	40	1		1	GRIN2A	16	10274071	Silent	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		10274071	80080682	42	31901											
NOL3	8996	broad.mit.edu	37	chr16	67208077	67208077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcagccccgacaatggGcaacgcgcaggagcggccgt	14	15	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:67208077G>A	ENST00000568146.1	+	2	58	c.5G>A	c.(4-6)gGc>gAc	p.G2D	NOL3_ENST00000432069.2_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D|KIAA0895L_ENST00000563831.2_5'Flank			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	2					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCGACAATGGGCAACGCGCAG	0.672																																						ENST00000432069.2																			0				ovary(1)	1						c.(4-6)gGc>gAc		nucleolar protein 3 (apoptosis repressor with CARD domain)							19	21	20					16																	67208077		1832	3911	5743	SO:0001583	missense	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208077G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.5G>A	16.37:g.67208077G>A	ENSP00000454598:p.Gly2Asp					NOL3_ENST00000568146.1_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D	p.G2D	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	577	+		Ovarian(137;0.192)	2					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.5G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001739	0.54254	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	.	.	.	4.57	3.62	0.41486	.	0.000000	0.50627	D	0.000117	T	0.53997	0.1831	N	0.19112	0.55	0.35245	D	0.778183	D;B	0.89917	1.0;0.266	D;B	0.80764	0.994;0.071	T	0.64711	-0.6343	9	0.87932	D	0	-10.0546	8.6313	0.33922	0.1085:0.0:0.8915:0.0	.	2;64	O60936;B4DFL0	NOL3_HUMAN;.	D	2	.	ENSP00000268605:G2D	G	+	2	0	NOL3	65765578	0.999000	0.42202	0.998000	0.56505	0.095000	0.18619	1.959000	0.40412	0.923000	0.37045	0.455000	0.32223	GGC		0.672	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			11	29	0	0	0	1	0	11	29					A	67208077	G	A	67208077	3	1	315	1	0	0	0	0	1	0	0	0	10523	1203	42	2	7	2	NOL3	16	67208077	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	56934006	67208077	23146676	43	31902											
FOXN1	8456	broad.mit.edu	37	chr17	26861989	26861989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctggcccctcctggacCcccgcagccattgttcccac	9	20	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:26861989C>A	ENST00000226247.2	+	7	1429	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	467					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)			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)					CCTCCTGGACCCCCGCAGCCA	0.677																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1399-1401)cCc>cAc		forkhead box N1							35	35	35					17																	26861989		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861989C>A	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.1400C>A	17.37:g.26861989C>A	ENSP00000226247:p.Pro467His					FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H	p.P467H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			7	1429	+	Lung NSC(42;0.00431)		467					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1400C>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	7.395	0.631516	0.14322	.	.	ENSG00000109101	ENST00000226247	D	0.93247	-3.19	4.35	2.12	0.27331	.	0.794130	0.11240	N	0.584700	T	0.81645	0.4866	N	0.08118	0	0.27391	N	0.955129	B	0.06786	0.001	B	0.06405	0.002	T	0.69491	-0.5131	10	0.25751	T	0.34	.	2.6089	0.04885	0.2721:0.51:0.0:0.2179	.	467	O15353	FOXN1_HUMAN	H	467	ENSP00000226247:P467H	ENSP00000226247:P467H	P	+	2	0	FOXN1	23886116	0.999000	0.42202	0.967000	0.41034	0.726000	0.41606	0.909000	0.28558	0.982000	0.38575	0.561000	0.74099	CCC		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			8	69	1	0	0.000157383	1	0.000159454	8	69					A	26861989	C	A	26861989	3	1	315	1	0	0	0	0	1	0	0	0	6019	623	22	4	1426	4	FOXN1	17	26861989	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		26861989	54333221	44	31903											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	11	16	0	0	rs556157666	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G|||	380	0.0758786	0.171	0.0749	5008	,	,		16398	0.0714		0.0119	False		,,,				2504	0.0184					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(136-138)gtA>gtG		keratin associated protein 4-9							15	22	20					17																	39261778		690	1591	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261778A>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.138A>G	17.37:g.39261778A>G							p.V46V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	195	+			46			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.138A>G	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		9	41	0	0	0	1	0	9	41					G	39261778	A	G	39261778	2	3	315	1	0	0	0	0	0	0	0	1	8557	436	16	3		3	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	12399789	39261778	41933432	45	31904											
BAIAP2	10458	broad.mit.edu	37	chr17	79059482	79059482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcacaacgagctgcttaCgcagctggagcagaaggtgg	13	9	1	1	rs371193130		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:79059482C>T	ENST00000321300.6	+	5	401	c.308C>T	c.(307-309)aCg>aTg	p.T103M	BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	103	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGCTGCTTACGCAGCTGGAG	0.602																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(307-309)aCg>aTg		BAI1-associated protein 2							90	77	82					17																	79059482		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79059482C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.308C>T	17.37:g.79059482C>T	ENSP00000316338:p.Thr103Met					BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M	p.T103M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	401	+	all_neural(118;0.101)		103			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.308C>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429634	0.25726	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.89	4.29	3.32	0.38043	IRSp53/MIM homology domain (IMD) (3);	0.121537	0.56097	D	0.000028	T	0.50360	0.1611	L	0.51422	1.61	0.33498	D	0.589583	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0;1.0;0.998	D;D;D;P;P;P;P;P	0.78314	0.95;0.991;0.956;0.779;0.791;0.878;0.878;0.779	T	0.61637	-0.7022	10	0.44086	T	0.13	-18.362	11.4886	0.50369	0.0:0.9114:0.0:0.0886	.	25;104;103;103;103;103;103;103	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	103;103;103;103;25	ENSP00000316338:T103M;ENSP00000401022:T103M;ENSP00000413069:T103M;ENSP00000315685:T103M;ENSP00000376211:T25M	ENSP00000315685:T103M	T	+	2	0	BAIAP2	76674077	0.012000	0.17670	0.020000	0.16555	0.043000	0.13939	1.261000	0.32980	1.013000	0.39391	0.655000	0.94253	ACG		0.602	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			4	72	0	0	0	1	0	4	72					T	79059482	C	T	79059482	3	4	315	1	0	0	0	0	1	0	0	0	1301	536	19	1	326	1	BAIAP2	17	79059482	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	39797704	79059482	2135728	46	31905											
SERPINB13	5275	broad.mit.edu	37	chr18	61262398	61262398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttgtgcttctgcccaacGacatcgatggcctggagaag	12	10	1	1	rs139404423		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr18:61262398G>A	ENST00000344731.5	+	7	853	c.751G>A	c.(751-753)Gac>Aac	p.D251N	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	251					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCTGCCCAACGACATCGATGG	0.458																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(751-753)Gac>Aac		serpin peptidase inhibitor, clade B (ovalbumin), member 13		G	ASN/ASP	0,4406		0,0,2203	150	139	143		751	4.8	1	18	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	251/392	61262398	1,13005	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61262398G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.751G>A	18.37:g.61262398G>A	ENSP00000341584:p.Asp251Asn					SERPINB13_ENST00000269489.5_Intron	p.D251N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			7	853	+			251					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.751G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731638	0.69189	0.0	1.16E-4	ENSG00000197641	ENST00000539341;ENST00000344731;ENST00000415733	D;D	0.84223	-1.82;-1.82	5.63	4.76	0.60689	Serpin domain (3);	0.102610	0.43579	D	0.000547	D	0.89532	0.6742	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.971;0.947;0.999	D	0.89011	0.3428	10	0.44086	T	0.13	.	13.9217	0.63935	0.0733:0.0:0.9267:0.0	.	260;169;251	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	169;251;100	ENSP00000341584:D251N;ENSP00000391156:D100N	ENSP00000341584:D251N	D	+	1	0	SERPINB13	59413378	0.940000	0.31905	0.995000	0.50966	0.971000	0.66376	4.777000	0.62361	1.370000	0.46153	0.655000	0.94253	GAC		0.458	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		4	108	0	0	0	1	0	4	108					A	61262398	G	A	61262398	3	1	315	1	0	0	0	0	1	0	0	0	14100	1058	37	1	773	1	SERPINB13	18	61262398	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		61262398	16814850	47	31906											
DEDD2	162989	broad.mit.edu	37	chr19	42721095	42721095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggtgaagcgacagcatcCcgtagtagtccaggcactca	11	12	1	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:42721095C>T	ENST00000595337.1	-	2	152	c.65G>A	c.(64-66)gGg>gAg	p.G22E	DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E|DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	22					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACAGCATCCCGTAGTAGTC	0.662																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(64-66)gGg>gAg		death effector domain containing 2							25	18	20					19																	42721095		2191	4296	6487	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42721095C>T	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.65G>A	19.37:g.42721095C>T	ENSP00000470082:p.Gly22Glu					DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron	p.G22E	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			2	152	-		Prostate(69;0.0704)	22					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.65G>A	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044129	0.93685	.	.	ENSG00000160570	ENST00000336034	.	.	.	4.13	4.13	0.48395	.	0.053599	0.64402	D	0.000001	T	0.66896	0.2836	L	0.35854	1.095	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68588	-0.5369	9	0.49607	T	0.09	-38.6653	15.6753	0.77311	0.0:1.0:0.0:0.0	.	22;22	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	E	22	.	ENSP00000336972:G22E	G	-	2	0	DEDD2	47412935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.647000	0.67923	2.306000	0.77630	0.561000	0.74099	GGG		0.662	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		3	15	0	0	0	1	0	3	15					T	42721095	C	T	42721095	3	4	315	1	0	0	0	0	1	0	0	0	4385	623	22	2	931	2	DEDD2	19	42721095	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		42721095	16407888	48	31907											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628473	51628473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacaaacaacccagctcGggcagtgtgggaggagactc	14	12	0	1	rs151265101		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:51628473G>A	ENST00000250360.3	+	1	309	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R81Q	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	81	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACCCAGCTCGGGCAGTGTGG	0.572																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(241-243)cGg>cAg		sialic acid binding Ig-like lectin 9		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	101	91	94		242,242	-3.2	0	19	dbSNP_134	94	1,8599		0,1,4299	no	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	81/480,81/464	51628473	1,13005	2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628473G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.242G>A	19.37:g.51628473G>A	ENSP00000250360:p.Arg81Gln					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R81Q	p.R81Q	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	309	+		all_neural(266;0.0529)	81			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.242G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	9.960	1.222425	0.22457	0.0	1.16E-4	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.64803	-0.12;-0.12	2.9	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.288320	0.06255	N	0.692757	T	0.47248	0.1435	L	0.47190	1.495	0.09310	N	1	P	0.38370	0.628	B	0.34180	0.177	T	0.38802	-0.9644	10	0.41790	T	0.15	.	3.9777	0.09481	0.4374:0.1863:0.3763:0.0	.	81	Q9Y336	SIGL9_HUMAN	Q	81	ENSP00000413861:R81Q;ENSP00000250360:R81Q	ENSP00000250360:R81Q	R	+	2	0	SIGLEC9	56320285	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.551000	0.02178	-0.531000	0.06340	0.411000	0.27672	CGG		0.572	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		26	67	0	0	0	1	0	26	67					A	51628473	G	A	51628473	3	1	315	1	0	0	0	0	1	0	0	0	14315	1116	39	1	244	1	SIGLEC9	19	51628473	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	8907378	51628473	7500510	49	31908											
TMPRSS15	5651	broad.mit.edu	37	chr21	19647644	19647644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcttgcaatatgtttGcagtagtacctgctcaaaat	7	9	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr21:19647644G>T	ENST00000284885.3	-	24	2807	c.2774C>A	c.(2773-2775)gCa>gAa	p.A925E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	925	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					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						CAATATGTTTGCAGTAGTACC	0.398																																						ENST00000284885.3																			0				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						c.(2773-2775)gCa>gAa		transmembrane protease, serine 15							109	98	102					21																	19647644		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19647644G>T		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.2774C>A	21.37:g.19647644G>T	ENSP00000284885:p.Ala925Glu						p.A925E	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			24	2807	-			925			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2774C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907449	0.52333	.	.	ENSG00000154646	ENST00000284885	D	0.88354	-2.37	5.75	3.93	0.45458	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.215520	0.39985	N	0.001202	D	0.85626	0.5740	L	0.46885	1.475	0.09310	N	1	P	0.48294	0.908	P	0.44359	0.447	T	0.76940	-0.2773	9	.	.	.	.	11.2104	0.48795	0.15:0.0:0.85:0.0	.	925	P98073	ENTK_HUMAN	E	925	ENSP00000284885:A925E	.	A	-	2	0	TMPRSS15	18569515	0.982000	0.34865	0.033000	0.17914	0.896000	0.52359	4.078000	0.57606	0.872000	0.35775	0.650000	0.86243	GCA		0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	59	1	0	0.000157383	1	0.000159454	6	59					T	19647644	G	T	19647644	3	4	315	1	0	0	0	0	1	0	0	0	16243	1319	46	4	293	4	TMPRSS15	21	19647644	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		19647644	28482251	50	31909											
RFPL3	10738	broad.mit.edu	37	chr22	32756257	32756257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggatatgaccttggatgCcgacacagccaacaacttcc	9	12	0	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:32756257C>T	ENST00000249007.4	+	2	597	c.392C>T	c.(391-393)gCc>gTc	p.A131V	RFPL3_ENST00000382088.3_Missense_Mutation_p.A102V|RFPL3S_ENST00000461833.1_5'Flank|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.A102V|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	131	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ACCTTGGATGCCGACACAGCC	0.502																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(391-393)gCc>gTc		ret finger protein-like 3							119	109	113					22																	32756257		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756257C>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.392C>T	22.37:g.32756257C>T	ENSP00000249007:p.Ala131Val					RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.A102V|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.A102V	p.A131V	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	597	+			131			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.392C>T	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.789596	0.00623	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.10382	2.88;2.88;2.88	0.664	-1.33	0.09172	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03305	0.0096	N	0.02225	-0.63	0.44168	D	0.996974	B	0.06786	0.001	B	0.16722	0.016	T	0.46317	-0.9200	9	0.32370	T	0.25	.	3.2388	0.06773	0.0:0.4477:0.2597:0.2926	.	131	O75679	RFPL3_HUMAN	V	102;131;102	ENSP00000380609:A102V;ENSP00000249007:A131V;ENSP00000371520:A102V	ENSP00000249007:A131V	A	+	2	0	RFPL3	31086257	0.946000	0.32159	0.088000	0.20740	0.094000	0.18550	3.383000	0.52471	-1.204000	0.02648	-1.133000	0.01973	GCC		0.502	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	127	0	0	0	1	0	4	127					T	32756257	C	T	32756257	3	4	315	1	0	0	0	0	1	0	0	0	13255	739	26	2	398	2	RFPL3	22	32756257	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		32756257	18548309	51	31910											
CACNA1I	8911	broad.mit.edu	37	chr22	40066233	40066233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctggagaagaagcgccGgagtgagtgggtgcctgtgg	20	8	0	3	rs199781624		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:40066233G>A	ENST00000402142.3	+	25	4385	c.4385G>A	c.(4384-4386)cGg>cAg	p.R1462Q	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1468Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1462					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)	AAGAAGCGCCGGAGTGAGTGG	0.667																																						ENST00000336649.4																			0				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						c.(4402-4404)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	GLN/ARG,GLN/ARG	0,4142		0,0,2071	41	45	44		4280,4385	4	1	22		44	1,8369		0,1,4184	yes	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	43,43	0,1,6255	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1427/2189,1462/2224	40066233	1,12511	2071	4185	6256	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066233G>A	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.4385G>A	22.37:g.40066233G>A	ENSP00000385019:p.Arg1462Gln					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1462Q	p.R1468Q			Q9P0X4	CAC1I_HUMAN			28	4403	+	Melanoma(58;0.0749)		1462					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4403G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850564	0.91277	0.0	1.19E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97232	-4.28;-4.24;-4.27;-4.23;-4.3;-4.21	3.95	3.95	0.45737	.	0.140283	0.46442	D	0.000281	D	0.98046	0.9356	M	0.71206	2.165	0.58432	D	0.999992	D;D;D;D	0.89917	0.998;0.987;1.0;0.998	D;P;D;P	0.81914	0.986;0.638;0.995;0.74	D	0.99016	1.0816	10	0.66056	D	0.02	.	16.3466	0.83134	0.0:0.0:1.0:0.0	.	1427;1462;1427;1462	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1462;1427;1462;1427;1468;1427	ENSP00000385019:R1462Q;ENSP00000384093:R1427Q;ENSP00000383887:R1462Q;ENSP00000385680:R1427Q;ENSP00000337829:R1468Q;ENSP00000383028:R1427Q	ENSP00000337829:R1468Q	R	+	2	0	CACNA1I	38396179	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	6.584000	0.74057	1.910000	0.55303	0.555000	0.69702	CGG		0.667	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	62	0	0	0	1	0	4	62					A	40066233	G	A	40066233	3	1	315	1	0	0	0	0	1	0	0	0	2546	1116	39	1	4483	1	CACNA1I	22	40066233	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	7309976	40066233	11238333	52	31911											
XG	7499	broad.mit.edu	37	chrX	2729413	2729413	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatcgtgtctcccatcgtatCcgtggtggtggtgacactgc	12	11	1	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:2729413C>G	ENST00000381174.5	+	9	671	c.446C>G	c.(445-447)tCc>tGc	p.S149C	XG_ENST00000419513.2_Missense_Mutation_p.S164C|snoU13_ENST00000516039.1_RNA|XG_ENST00000426774.1_Missense_Mutation_p.S150C			P55808	XG_HUMAN	Xg blood group	149						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				CCCATCGTATCCGTGGTGGTG	0.448																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(448-450)tCc>tGc		Xg blood group							65	59	61					X																	2729413		2203	4298	6501	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2729413C>G	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.446C>G	X.37:g.2729413C>G	ENSP00000370566:p.Ser149Cys					XG_ENST00000381174.5_Missense_Mutation_p.S149C|XG_ENST00000419513.2_Missense_Mutation_p.S164C	p.S150C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			9	672	+		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)	149					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.449C>G	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305681	0.23736	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	3.6	2.71	0.32032	.	0.342724	0.26765	U	0.022613	T	0.34629	0.0904	M	0.67397	2.05	0.09310	N	1	B;B	0.22146	0.065;0.053	B;B	0.20384	0.029;0.017	T	0.35375	-0.9791	10	0.87932	D	0	.	8.6942	0.34284	0.0:0.77:0.23:0.0	.	149;164	P55808;P55808-3	XG_HUMAN;.	C	149;164;150;127;11	ENSP00000370566:S149C;ENSP00000411004:S164C;ENSP00000398503:S150C;ENSP00000430005:S127C	ENSP00000370566:S149C	S	+	2	0	XG	2739413	0.009000	0.17119	0.002000	0.10522	0.196000	0.23810	0.853000	0.27777	0.517000	0.28361	0.384000	0.25694	TCC		0.448	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		6	18	0	0	0	1	0	6	18					G	2729413	C	G	2729413	3	3	315	1	0	0	0	0	1	0	0	0	17424	855	30	4	532	4	XG	23	2729413	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		2729413	152541147	53	31912											
FAM47B	170062	broad.mit.edu	37	chrX	34961355	34961355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttggccatgtaccccaAtctgggaaaagatatgcctc	8	13	1	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:34961355A>G	ENST00000329357.5	+	1	443	c.407A>G	c.(406-408)aAt>aGt	p.N136S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	136										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATGTACCCCAATCTGGGAAAA	0.567																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(406-408)aAt>aGt		family with sequence similarity 47, member B							92	81	85					X																	34961355		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961355A>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.407A>G	X.37:g.34961355A>G	ENSP00000328307:p.Asn136Ser						p.N136S	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	443	+			136					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.407A>G	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	A	1.094	-0.663069	0.03428	.	.	ENSG00000189132	ENST00000329357	T	0.18502	2.21	0.843	-0.587	0.11690	.	.	.	.	.	T	0.10680	0.0261	L	0.38838	1.175	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.38585	-0.9654	9	0.21014	T	0.42	.	4.282	0.10838	0.7589:0.0:0.2411:0.0	.	136	Q8NA70	FA47B_HUMAN	S	136	ENSP00000328307:N136S	ENSP00000328307:N136S	N	+	2	0	FAM47B	34871276	0.313000	0.24554	0.002000	0.10522	0.016000	0.09150	-2.264000	0.01173	-0.239000	0.09710	-1.064000	0.02280	AAT		0.567	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		8	77	0	0	0	1	0	8	77					G	34961355	A	G	34961355	3	3	315	1	0	0	0	0	1	0	0	0	5570	101	4	3	409	3	FAM47B	23	34961355	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32231942	34961355	120309205	54	31913											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	176	0	0	0	1	0	5	176					G	37028425	A	G	37028425	3	3	315	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	2067070	37028425	118242135	55	31914											
ATRX	546	broad.mit.edu	37	chrX	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C													tgttttccagttctttttttINScccttcttctggctcatcat							TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300	Interaction with DAXX.				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						GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3895-3900)ggaaaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920179_76920180insC	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.3898dupG	X.37:g.76920182_76920182dupC	ENSP00000362441:p.Lys1300fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.GK1261fs	p.GK1299fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4111_4112	-			1299					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3897_3898insG	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		31	72						31	72	---	---	---	---	C	76920180	-	C	76920179	7	5	315	1	0	1	1	0	0	0	0	0	1208	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-HT-A5R7-01A-11D-A289-08	39891754	76920179	78350381	56	31915											
ZNF280C	55609	broad.mit.edu	37	chrX	129354401	129354401	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccttatgttcagctttctcCttgctggtcaaaaattgtag	8	9	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:129354401C>G	ENST00000370978.4	-	13	1602	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	483					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(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGCTTTCTCCTTGCTGGTCA	0.383																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1447-1449)aaG>aaC		zinc finger protein 280C							146	129	135					X																	129354401		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354401C>G	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1449G>C	X.37:g.129354401C>G	ENSP00000360017:p.Lys483Asn						p.K483N	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			13	1602	-			483					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1449G>C	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904393	0.33628	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.10668	4.14;2.85	3.83	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.24812	0.0602	M	0.82517	2.595	0.30772	N	0.74294	P;P	0.51653	0.947;0.905	P;P	0.55087	0.768;0.768	T	0.23368	-1.0190	9	0.87932	D	0	.	8.7249	0.34463	0.0:0.5187:0.0:0.4813	.	434;483	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	434;483;434	ENSP00000360017:K483N;ENSP00000408521:K434N	ENSP00000066465:K434N	K	-	3	2	ZNF280C	129182082	1.000000	0.71417	0.990000	0.47175	0.072000	0.16883	1.269000	0.33074	-0.273000	0.09246	0.429000	0.28392	AAG		0.383	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		5	108	0	0	0	1	0	5	108					G	129354401	C	G	129354401	3	3	315	1	0	0	0	0	1	0	0	0	17813	680	24	4	792	4	ZNF280C	23	129354401	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	52434222	129354401	25916159	57	31916											
GPC4	2239	broad.mit.edu	37	chrX	132548972	132548972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccagggtgcagagaagcgCgggcaagccgaaccgtgcca	16	12	0	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:132548972C>T	ENST00000370828.3	-	1	546	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	8					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|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)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGAGAAGCGCGGGCAAGCCG	0.687																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(22-24)Gcg>Acg		glypican 4							23	24	24					X																	132548972		2203	4297	6500	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132548972C>T	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.22G>A	X.37:g.132548972C>T	ENSP00000359864:p.Ala8Thr						p.A8T	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			1	546	-	Acute lymphoblastic leukemia(192;0.000127)		8					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.22G>A	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679252	0.29783	.	.	ENSG00000076716	ENST00000370828;ENST00000536418	T	0.37752	1.18	4.31	1.0	0.19881	.	0.859710	0.10088	N	0.717550	T	0.12390	0.0301	N	0.02011	-0.69	0.26429	N	0.975974	B	0.06786	0.001	B	0.06405	0.002	T	0.20605	-1.0270	10	0.48119	T	0.1	.	1.6204	0.02712	0.438:0.2909:0.1496:0.1215	.	8	O75487	GPC4_HUMAN	T	8	ENSP00000359864:A8T	ENSP00000359864:A8T	A	-	1	0	GPC4	132376638	0.971000	0.33674	0.938000	0.37757	0.892000	0.51952	0.111000	0.15458	0.158000	0.19367	-0.353000	0.07706	GCG		0.687	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		5	56	0	0	0	1	0	5	56					T	132548972	C	T	132548972	3	4	315	1	0	0	0	0	1	0	0	0	6600	768	27	1	1684	1	GPC4	23	132548972	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	3194571	132548972	22721588	58	31917											
PTPRF	5792	broad.mit.edu	37	chr1	44019524	44019524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggatccagccattgcgGgtgcagcgagatgaagccat	13	11	0	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:44019524G>A	ENST00000359947.4	+	5	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_ENST00000372414.3_Silent_p.R97R|PTPRF_ENST00000438120.1_Silent_p.R97R|PTPRF_ENST00000372413.3_Silent_p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	97	Ig-like C2-type 1.				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)				AGCCATTGCGGGTGCAGCGAG	0.542																																						ENST00000359947.4																			0				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						c.(289-291)cgG>cgA		protein tyrosine phosphatase, receptor type, F							142	106	118					1																	44019524		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44019524G>A	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.291G>A	1.37:g.44019524G>A						PTPRF_ENST00000438120.1_Silent_p.R97R|PTPRF_ENST00000372413.3_Silent_p.R97R|PTPRF_ENST00000372414.3_Silent_p.R97R	p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			5	631	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	97			Ig-like C2-type 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.291G>A	CCDS489.2																																																																																				0.542	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			3	39	0	0	0	1	0	3	39					A	44019524	G	A	44019524	2	1	316	1	0	0	0	0	0	0	0	1	12801	1219	43	2		2	PTPRF	1	44019524	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		44019524	205231097	1	31918											
OR6K2	81448	broad.mit.edu	37	chr1	158669721	158669721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgaagtgagagacacacGtggaaaatgctgtgcggcgg	15	7	0	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:158669721G>A	ENST00000359610.2	-	1	765	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAGACACACGTGGAAAATGC	0.463																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(721-723)aCg>aTg		olfactory receptor, family 6, subfamily K, member 2							115	104	108					1																	158669721		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669721G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.722C>T	1.37:g.158669721G>A	ENSP00000352626:p.Thr241Met						p.T241M	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	765	-	all_hematologic(112;0.0378)		241					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.722C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013641	0.54468	.	.	ENSG00000196171	ENST00000359610	T	0.42513	0.97	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000645	T	0.76564	0.4005	H	0.99026	4.405	0.48901	D	0.999721	D	0.89917	1.0	D	0.97110	1.0	D	0.86504	0.1805	10	0.87932	D	0	-6.5034	17.103	0.86654	0.0:0.0:1.0:0.0	.	241	Q8NGY2	OR6K2_HUMAN	M	241	ENSP00000352626:T241M	ENSP00000352626:T241M	T	-	2	0	OR6K2	156936345	1.000000	0.71417	0.952000	0.39060	0.118000	0.20060	7.234000	0.78134	2.538000	0.85594	0.655000	0.94253	ACG		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		40	46	0	0	0	1	0	40	46					A	158669721	G	A	158669721	3	1	316	1	0	0	0	0	1	0	0	0	11202	1145	40	1	256	1	OR6K2	1	158669721	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	114650197	158669721	90580900	2	31919											
NOS1AP	9722	broad.mit.edu	37	chr1	162313698	162313698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctgagcctgcagcacaCgcagcagaatgcagatggcc	12	13	0	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:162313698C>T	ENST00000361897.5	+	6	929	c.527C>T	c.(526-528)aCg>aTg	p.T176M	MIR556_ENST00000384996.1_RNA|NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	176	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCAGCACACGCAGCAGAAT	0.582																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(526-528)aCg>aTg		nitric oxide synthase 1 (neuronal) adaptor protein							115	104	108					1																	162313698		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313698C>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.527C>T	1.37:g.162313698C>T	ENSP00000355133:p.Thr176Met					NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	p.T176M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	929	+	all_hematologic(112;0.203)		176			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.527C>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923256	0.92319	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.78003	-1.14;-1.14	5.79	5.79	0.91817	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.088249	0.85682	D	0.000000	T	0.66446	0.2790	L	0.50333	1.59	.	.	.	D;P;D	0.56287	0.972;0.946;0.975	B;B;B	0.39805	0.31;0.31;0.31	T	0.73151	-0.4073	9	0.52906	T	0.07	.	18.6038	0.91259	0.0:1.0:0.0:0.0	.	171;171;176	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	M	171;176	ENSP00000431586:T171M;ENSP00000355133:T176M	ENSP00000355133:T176M	T	+	2	0	NOS1AP	160580322	0.989000	0.36119	0.970000	0.41538	0.989000	0.77384	2.867000	0.48428	2.733000	0.93635	0.655000	0.94253	ACG		0.582	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		49	73	0	0	0	1	0	49	73					T	162313698	C	T	162313698	3	4	316	1	0	0	0	0	1	0	0	0	10542	536	19	1	549	1	NOS1AP	1	162313698	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3643977	162313698	86936923	3	31920											
C1orf9	51430	broad.mit.edu	37	chr1	172558108	172558108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtgaactgaccacaAtttgttgtatttctagtttt	7	6	1	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:172558108A>G	ENST00000263688.3	+	18	2086	c.1867A>G	c.(1867-1869)Att>Gtt	p.I623V	SUCO_ENST00000367723.4_Missense_Mutation_p.I774V|SUCO_ENST00000608151.1_Missense_Mutation_p.I775V|SUCO_ENST00000610051.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	623					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ACTGACCACAATTTGTTGTAT	0.413																																						ENST00000367723.3																			0											c.(2323-2325)Att>Gtt		SUN domain containing ossification factor							91	93	92					1																	172558108		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172558108A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1867A>G	1.37:g.172558108A>G	ENSP00000263688:p.Ile623Val					SUCO_ENST00000263688.3_Missense_Mutation_p.I623V	p.I775V	NM_016227.2	NP_057311.2					17	2447	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2323A>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	9.781	1.175438	0.21704	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.45	2.8	0.32819	.	0.458628	0.24566	N	0.037431	T	0.11367	0.0277	L	0.29908	0.895	0.28099	N	0.931489	B;B;B	0.15473	0.003;0.013;0.004	B;B;B	0.12156	0.003;0.007;0.004	T	0.22487	-1.0215	9	0.23302	T	0.38	-8.7741	8.2097	0.31476	0.7678:0.0:0.2322:0.0	.	623;775;623	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	775;623	.	ENSP00000263688:I623V	I	+	1	0	C1orf9	170824731	0.009000	0.17119	1.000000	0.80357	0.986000	0.74619	0.834000	0.27518	0.905000	0.36596	-0.371000	0.07208	ATT		0.413	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		18	24	0	0	0	1	0	18	24					G	172558108	A	G	172558108	3	3	316	1	0	0	0	0	1	0	0	0	2067	101	4	3	1937	3	C1orf9	1	172558108	Missense_Mutation	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	10244410	172558108	76692513	4	31921											
KDM5B	10765	broad.mit.edu	37	chr1	202705465	202705465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagatgtacggggatagatCggcctcgtgtaacaagttct	12	8	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:202705465C>T	ENST00000367265.3	-	21	4304	c.3140G>A	c.(3139-3141)cGa>cAa	p.R1047Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1047					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						GGGGATAGATCGGCCTCGTGT	0.428																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3139-3141)cGa>cAa		lysine (K)-specific demethylase 5B							108	100	103					1																	202705465		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202705465C>T	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.3140G>A	1.37:g.202705465C>T	ENSP00000356234:p.Arg1047Gln					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	p.R1047Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			21	4304	-			1047					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3140G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042343	0.75732	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.46063	0.88;0.88;0.88	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.114404	0.64402	D	0.000008	T	0.49762	0.1576	L	0.45228	1.405	0.52501	D	0.99995	P;P	0.46706	0.512;0.883	B;P	0.49451	0.05;0.611	T	0.45527	-0.9255	10	0.59425	D	0.04	-11.108	20.1253	0.97977	0.0:1.0:0.0:0.0	.	1083;1047	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	1047;889;1083;889	ENSP00000356234:R1047Q;ENSP00000356233:R1083Q;ENSP00000235790:R889Q	ENSP00000235790:R889Q	R	-	2	0	KDM5B	200972088	1.000000	0.71417	0.864000	0.33941	0.996000	0.88848	4.823000	0.62694	2.832000	0.97577	0.655000	0.94253	CGA		0.428	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		10	63	0	0	0	1	0	10	63					T	202705465	C	T	202705465	3	4	316	1	0	0	0	0	1	0	0	0	8134	884	31	1	1522	1	KDM5B	1	202705465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	30147357	202705465	46545156	5	31922											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206904037	206904037	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctttgatttgcagctccAgaagtgctgggtccagagaa	12	9	0	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:206904037A>C	ENST00000367103.3	+	6	889	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_ENST00000294981.4_Silent_p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	232	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)			TTGCAGCTCCAGAAGTGCTGG	0.552																																						ENST00000367103.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(694-696)ccA>ccC		mitogen-activated protein kinase-activated protein kinase 2							118	111	114					1																	206904037		2203	4300	6503	SO:0001819	synonymous_variant	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206904037A>C	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.696A>C	1.37:g.206904037A>C						MAPKAPK2_ENST00000294981.4_Silent_p.P232P	p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	889	+	Breast(84;0.183)		232			Protein kinase.		Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	ENST00000367103.3	37	c.696A>C	CCDS31001.1																																																																																				0.552	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		27	55	0	0	0	1	0	27	55					C	206904037	A	C	206904037	2	2	316	1	0	0	0	0	0	0	0	1	9289	175	7	5		5	MAPKAPK2	1	206904037	Silent	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	4198572	206904037	42346584	6	31923											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G													ctggagccttcgggcatggcINSgggctttggggggcattcgc							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs|HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					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						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		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.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs|HTRA2_ENST00000467961.1_Intron	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		17	141						17	141	---	---	---	---	G	74757186	-	G	74757185	7	5	316	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5R9-01A-11D-A289-08		74757185	168442188	7	31924											
REV1	51455	broad.mit.edu	37	chr2	100055074	100055076	+	In_Frame_Del	DEL	ACA	ACA	-													agtatctacctgtgtcagttAcaacaagtgcagacctgcct							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:100055074_100055076delACA	ENST00000258428.3	-	6	1428_1430	c.1200_1202delTGT	c.(1198-1203)gttgta>gta	p.400_401VV>V	REV1_ENST00000393445.3_In_Frame_Del_p.400_401VV>V|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	400					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						TGTGTCAGTTACAACAAGTGCAG	0.335								Direct reversal of damage																														ENST00000258428.3																			0				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						c.(1198-1203)gta>gt	Direct reversal of damage	REV1, polymerase (DNA directed)			,	0,4264		0,0,2132					,	4.7	1			64	3,8251		1,1,4125	no	coding,coding	REV1	NM_016316.2,NM_001037872.1	,	1,1,6257	A1A1,A1R,RR		0.0363,0.0,0.024	,	,		3,12515				SO:0001651	inframe_deletion	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055074_100055076delACA	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.1200_1202delTGT	2.37:g.100055077_100055079delACA	ENSP00000258428:p.Val401del					REV1_ENST00000393445.3_In_Frame_Del_p.VV400del|REV1_ENST00000465835.1_5'UTR	p.VV400del	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			6	1428_1430	-			400					O95941|Q53SI7|Q9C0J4|Q9NUP2	In_Frame_Del	DEL	ENST00000258428.3	37	c.1200_1202delTGT	CCDS2045.1																																																																																				0.335	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		26	48						26	48	---	---	---	---	-	100055076	ACA	-	100055074	7	5	316	1	0	1	0	1	0	0	0	0	13239	391	14	0	2625	0	REV1	2	100055074	In_Frame_Del	DEL	ACA	TCGA-HT-A5R9-01A-11D-A289-08	25297889	100055074	143144299	8	31925											
SMPD4	55627	broad.mit.edu	37	chr2	130930223	130930225	+	In_Frame_Del	DEL	AAG	AAG	-													gagtgatgaggctcaaggcaAagaagaatatgtaatactcg							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:130930223_130930225delAAG	ENST00000409031.1	-	7	1745_1747	c.597_599delCTT	c.(595-600)ttcttt>ttt	p.199_200FF>F	SMPD4_ENST00000339679.7_In_Frame_Del_p.86_87FF>F|SMPD4_ENST00000351288.6_In_Frame_Del_p.199_200FF>F|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.126_127FF>F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	160					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	gctcaaggcaaagaagaatatgt	0.571																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(595-600)ttt>tt		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130930223_130930225delAAG	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.597_599delCTT	2.37:g.130930226_130930228delAAG	ENSP00000386531:p.Phe200del					SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_In_Frame_Del_p.FF86del|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.FF126del|SMPD4_ENST00000351288.6_In_Frame_Del_p.FF199del|SMPD4_ENST00000452225.2_Intron	p.FF199del	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			7	1745_1747	-	Colorectal(110;0.1)		160					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	In_Frame_Del	DEL	ENST00000409031.1	37	c.597_599delCTT	CCDS42751.1																																																																																				0.571	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		15	127						15	127	---	---	---	---	-	130930225	AAG	-	130930223	7	5	316	1	0	1	0	1	0	0	0	0	14807	14	1	0	2057	0	SMPD4	2	130930223	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08	30875149	130930223	112269150	9	31926											
DPP4	1803	broad.mit.edu	37	chr2	162851494	162851494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggaaatccactccaaCatcgaccagggctttggaga	10	12	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:162851494C>T	ENST00000360534.3	-	25	2736	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	726					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCCACTCCAACATCGACCAGG	0.453																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(2176-2178)Gtt>Att		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						88	82	84					2																	162851494		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162851494C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2176G>A	2.37:g.162851494C>T	ENSP00000353731:p.Val726Ile					DPP4_ENST00000491591.1_5'UTR	p.V726I	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			25	2736	-			726					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2176G>A	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214129	0.58452	.	.	ENSG00000197635	ENST00000360534	T	0.29655	1.56	5.66	5.66	0.87406	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.051466	0.85682	D	0.000000	T	0.22666	0.0547	N	0.11560	0.145	0.21445	N	0.999682	B	0.13594	0.008	B	0.17979	0.02	T	0.30060	-0.9991	10	0.87932	D	0	-10.7182	19.7417	0.96234	0.0:1.0:0.0:0.0	.	726	P27487	DPP4_HUMAN	I	726	ENSP00000353731:V726I	ENSP00000353731:V726I	V	-	1	0	DPP4	162559740	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.499000	0.66937	2.661000	0.90470	0.655000	0.94253	GTT		0.453	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			4	69	0	0	0	1	0	4	69					T	162851494	C	T	162851494	3	4	316	1	0	0	0	0	1	0	0	0	4729	478	17	2	132	2	DPP4	2	162851494	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	31921271	162851494	80347879	10	31927											
GIGYF2	26058	broad.mit.edu	37	chr2	233714984	233714984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacaggactctgtgtggGggatgaaccacagtacactc	11	10	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:233714984G>A	ENST00000409547.1	+	30	4008	c.3697G>A	c.(3697-3699)Ggg>Agg	p.G1233R	GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R|GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000373566.3_Missense_Mutation_p.G1255R	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1233	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTCTGTGTGGGGGATGAACCA	0.433																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3763-3765)Ggg>Agg		GRB10 interacting GYF protein 2							142	130	134					2																	233714984		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233714984G>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3697G>A	2.37:g.233714984G>A	ENSP00000386537:p.Gly1233Arg					GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000409547.1_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R	p.G1255R			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	29	3960	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1233					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3763G>A	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857903	0.91433	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.49	5.49	0.81192	.	0.159639	0.56097	D	0.000031	T	0.73001	0.3531	L	0.34521	1.04	0.80722	D	1	P;P;P	0.52577	0.954;0.954;0.954	P;P;P	0.55785	0.784;0.784;0.784	T	0.69877	-0.5026	10	0.32370	T	0.25	-23.8564	17.9206	0.88965	0.0:0.0:1.0:0.0	.	1254;1233;1227	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	R	1255;1233;1255;1233;1227;1254	ENSP00000362667:G1255R;ENSP00000362664:G1233R;ENSP00000386765:G1255R;ENSP00000386537:G1233R;ENSP00000387070:G1227R;ENSP00000387170:G1254R	ENSP00000362664:G1233R	G	+	1	0	GIGYF2	233423228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.380000	0.90149	2.734000	0.93682	0.655000	0.94253	GGG		0.433	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		6	100	0	0	0	1	0	6	100					A	233714984	G	A	233714984	3	1	316	1	0	0	0	0	1	0	0	0	6378	1232	43	2	3869	2	GIGYF2	2	233714984	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	70863490	233714984	9484389	11	31928											
C3orf31	132001	broad.mit.edu	37	chr3	11887995	11887995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctggtctgaactcggcCctgcctggcggtacaccccg	11	17	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:11887995C>T	ENST00000444133.2	-	1	258	c.116G>A	c.(115-117)gGg>gAg	p.G39E	TAMM41_ENST00000455809.1_Missense_Mutation_p.G39E|TAMM41_ENST00000273037.5_Missense_Mutation_p.G39E			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	39					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										TGAACTCGGCCCTGCCTGGCG	0.622																																						ENST00000444133.2																			0											c.(115-117)gGg>gAg		TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)							64	64	64					3																	11887995		2203	4300	6503	SO:0001583	missense	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11887995C>T		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"chromosome 3 open reading frame 31"	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.116G>A	3.37:g.11887995C>T	ENSP00000388598:p.Gly39Glu					TAMM41_ENST00000273037.5_Missense_Mutation_p.G39E|TAMM41_ENST00000455809.1_Missense_Mutation_p.G39E	p.G39E			Q96BW9	MMP37_HUMAN			1	258	-			39					B4DIY7|C9J2U4	Missense_Mutation	SNP	ENST00000444133.2	37	c.116G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.142886	0.77888	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.32272	1.46;1.46;1.46	4.71	4.71	0.59529	.	0.118505	0.56097	D	0.000025	T	0.54062	0.1835	M	0.82323	2.585	0.58432	D	0.999999	D;P;P	0.63880	0.993;0.893;0.72	P;P;P	0.61940	0.896;0.658;0.725	T	0.58284	-0.7663	10	0.51188	T	0.08	-34.6949	13.039	0.58889	0.0:1.0:0.0:0.0	.	39;39;39	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	E	39	ENSP00000398596:G39E;ENSP00000273037:G39E;ENSP00000388598:G39E	ENSP00000273037:G39E	G	-	2	0	TAMM41	11862995	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.902000	0.69869	2.445000	0.82738	0.467000	0.42956	GGG		0.622	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		49	83	0	0	0	1	0	49	83					T	11887995	C	T	11887995	3	4	316	1	0	0	0	0	1	0	0	0	2221	623	22	2	862	2	C3orf31	3	11887995	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		11887995	186134435	12	31929											
GPR128	84873	broad.mit.edu	37	chr3	100373800	100373800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacttgcagacaagtgatGgtgacatcaataatattgac	9	6	1	5			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:100373800G>A	ENST00000273352.3	+	12	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_ENST00000475887.1_Missense_Mutation_p.G206S|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	501					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						GACAAGTGATGGTGACATCAA	0.408																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				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						c.(1501-1503)Ggt>Agt		G protein-coupled receptor 128							175	154	161					3																	100373800		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373800G>A	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.1501G>A	3.37:g.100373800G>A	ENSP00000273352:p.Gly501Ser					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.G206S	p.G501S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1769	+			501					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1501G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	1.201	-0.632562	0.03584	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.41400	1.0;1.0	5.48	-2.66	0.06077	GPCR, family 2-like (1);	1.248000	0.05273	N	0.517933	T	0.11665	0.0284	N	0.00683	-1.26	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.26643	-1.0097	10	0.07325	T	0.83	.	6.6253	0.22826	0.4057:0.143:0.4513:0.0	.	206;501	E9PHI0;Q96K78	.;GP128_HUMAN	S	501;206	ENSP00000273352:G501S;ENSP00000419788:G206S	ENSP00000273352:G501S	G	+	1	0	GPR128	101856490	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.947000	0.03901	-0.485000	0.06754	-0.150000	0.13652	GGT		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			58	77	0	0	0	1	0	58	77					A	100373800	G	A	100373800	3	1	316	1	0	0	0	0	1	0	0	0	6641	1348	47	2	1547	2	GPR128	3	100373800	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	88485805	100373800	97648630	13	31930											
GPR156	165829	broad.mit.edu	37	chr3	119885960	119885960	+	Frame_Shift_Del	DEL	C	C	-													agcttttcccaggaagccagCcccccagtaggctcagggtc							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:119885960delC	ENST00000464295.1	-	10	2809	c.2364delG	c.(2362-2364)gggfs	p.G788fs	GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs|GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	788						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAAGCCAGCCCCCCAGTAG	0.552																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2362-2364)ggfs		G protein-coupled receptor 156							142	160	154					3																	119885960		2203	4300	6503	SO:0001589	frameshift_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885960delC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2364delG	3.37:g.119885960delC	ENSP00000417261:p.Gly788fs					GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs|GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs	p.G788fs			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2809	-			788					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Frame_Shift_Del	DEL	ENST00000464295.1	37	c.2364delG	CCDS2997.1																																																																																				0.552	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		9	466						9	466	---	---	---	---	-	119885960	C	-	119885960	7	5	316	1	0	1	0	1	0	0	0	0	6661	726	26	0	84	0	GPR156	3	119885960	Frame_Shift_Del	DEL	C	TCGA-HT-A5R9-01A-11D-A289-08	19512160	119885960	78136470	14	31931											
ACPP	55	broad.mit.edu	37	chr3	132086622	132086622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactactgtttatccacattCgccgtggactctgctggcag	9	12	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:132086622C>T	ENST00000351273.7	+	11	1263	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCCACATTCGCCGTGGACT	0.463																																						ENST00000351273.7																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1213-1215)Cgc>Tgc		acid phosphatase, prostate							399	339	357					3																	132086622		1568	3582	5150	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132086622C>T		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000351273.7:c.1213C>T	3.37:g.132086622C>T	ENSP00000323036:p.Arg405Cys						p.R405C	NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN			11	1263	+			0					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000351273.7	37	c.1213C>T	CCDS46916.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520350	0.27211	.	.	ENSG00000014257	ENST00000351273	T	0.07688	3.17	4.96	4.96	0.65561	.	0.424638	0.22602	N	0.057947	T	0.23492	0.0568	.	.	.	0.24888	N	0.992185	D	0.89917	1.0	D	0.63703	0.917	T	0.01520	-1.1334	9	0.49607	T	0.09	.	14.4466	0.67356	0.0:1.0:0.0:0.0	.	405	P15309-2	.	C	405	ENSP00000323036:R405C	ENSP00000323036:R405C	R	+	1	0	ACPP	133569312	0.859000	0.29813	0.504000	0.27639	0.176000	0.22953	1.943000	0.40253	2.699000	0.92147	0.655000	0.94253	CGC		0.463	ACPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356701.1	NM_001099		84	209	0	0	0	1	0	84	209					T	132086622	C	T	132086622	3	4	316	1	0	0	0	0	1	0	0	0	167	884	31	1	1278	1	ACPP	3	132086622	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12200662	132086622	65935808	15	31932											
SCHIP1	100505385	broad.mit.edu	37	chr3	159482639	159482639	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctccaccagcacgacccCcaggacctcaggcacaatgg	8	18	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:159482639C>A	ENST00000460298.1	+	2	631	c.390C>A	c.(388-390)ccC>ccA	p.P130P	IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P206P|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.P157P|IQCJ-SCHIP1-AS1_ENST00000460574.1_RNA|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P157P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P233P					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGCACGACCCCCAGGACCTCA	0.756																																						ENST00000337808.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(469-471)ccC>ccA									5	4	5					3																	159482639		1831	3629	5460	SO:0001819	synonymous_variant	0					cytoplasm	identical protein binding|protein binding	g.chr3:159482639C>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.390C>A	3.37:g.159482639C>A						IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P157P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P130P|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P206P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P233P	p.P157P	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			2	1048	+			157						Silent	SNP	ENST00000460298.1	37	c.471C>A																																																																																					0.756	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		7	10	1	0	0.0381472	1	0.0386124	7	10					A	159482639	C	A	159482639	2	1	316	1	0	0	0	0	0	0	0	1	13904	610	22	4		4	SCHIP1	3	159482639	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	27396017	159482639	38539791	16	31933											
RBPJ	3516	broad.mit.edu	37	chr4	26426014	26426017	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													tgtttaatcgactacgatccCagacagttagtaccagatac							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr4:26426014_26426017delCAGA	ENST00000361572.6	+	6	780_783	c.586_589delCAGA	c.(586-591)cagacafs	p.QT196fs	RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	196					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACTACGATCCCAGACAGTTAGTAC	0.422																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(544-549)cafs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426014_26426017delCAGA	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.586_589delCAGA	4.37:g.26426014_26426017delCAGA	ENSP00000354528:p.Gln196fs					RBPJ_ENST00000361572.6_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs	p.QT182fs			Q06330	SUH_HUMAN			6	720_723	+		Breast(46;0.0503)	196					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.544_547delCAGA	CCDS3437.1																																																																																				0.422	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		41	31						41	31	---	---	---	---	-	26426017	CAGA	-	26426014	7	5	316	1	0	1	0	1	0	0	0	0	13161	595	21	0	671	0	RBPJ	4	26426014	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08		26426014	164728262	17	31934											
DDX4	54514	broad.mit.edu	37	chr5	55075828	55075828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattcagaagcttcagggcCatacagaagaggtggaagag	13	6	2	4	rs137993034		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:55075828C>T	ENST00000505374.1	+	8	523	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_ENST00000511853.1_Intron|RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	144	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCAGGGCCATACAGAAGA	0.413																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(430-432)cCa>cTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4		C	,LEU/PRO,,LEU/PRO	0,4406		0,0,2203	146	135	139		,371,,431	5.4	0.8	5	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	,98,,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,,benign	,124/705,,144/725	55075828	1,13005	2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55075828C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.431C>T	5.37:g.55075828C>T	ENSP00000424838:p.Pro144Leu					DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron	p.P144L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			8	523	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	144			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.431C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731966	0.69189	0.0	1.16E-4	ENSG00000152670	ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679;ENST00000511491	T;T;T;T;T;T	0.51817	2.07;2.01;3.55;0.84;0.75;0.69	5.37	5.37	0.77165	.	0.696652	0.13921	N	0.353568	T	0.36220	0.0959	L	0.36672	1.1	0.26798	N	0.969265	B;B	0.18741	0.01;0.03	B;B	0.21151	0.033;0.022	T	0.15235	-1.0444	10	0.16420	T	0.52	-7.1262	9.9516	0.41642	0.0:0.9106:0.0:0.0894	.	124;144	D6RDK4;Q9NQI0	.;DDX4_HUMAN	L	124;144;124;118;144;144	ENSP00000425359:P124L;ENSP00000424838:P144L;ENSP00000427167:P124L;ENSP00000424779:P118L;ENSP00000424112:P144L;ENSP00000427522:P144L	ENSP00000424838:P144L	P	+	2	0	DDX4	55111585	0.003000	0.15002	0.787000	0.31911	0.990000	0.78478	1.682000	0.37628	2.798000	0.96311	0.650000	0.86243	CCA		0.413	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		10	35	0	0	0	1	0	10	35					T	55075828	C	T	55075828	3	4	316	1	0	0	0	0	1	0	0	0	4360	594	21	2	498	2	DDX4	5	55075828	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		55075828	125839432	18	31935											
HBEGF	1839	broad.mit.edu	37	chr5	139715486	139715489	+	Frame_Shift_Del	DEL	CAGA	CAGA	-													agaagccccacgatgaccagCagacagacagatgacagcac							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:139715486_139715489delCAGA	ENST00000230990.6	-	4	824_827	c.522_525delTCTG	c.(520-525)tgtctgfs	p.CL174fs	HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	174					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)|muscle organ development (GO:0007517)|negative regulation of elastin biosynthetic process (GO:0051545)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of wound healing (GO:0090303)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGACCAGCAGACAGACAGATG	0.554																																						ENST00000230990.6																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(520-525)tgfs		heparin-binding EGF-like growth factor																																				SO:0001589	frameshift_variant	1839				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity	g.chr5:139715486_139715489delCAGA		CCDS4223.1	5q23	2012-10-02	2005-01-14	2005-01-14	ENSG00000113070	ENSG00000113070			3059	protein-coding gene	gene with protein product	"Diphtheria toxin receptor (heparin-binding EGF-like growth factor)", "heparin-binding epidermal growth factor"	126150	"diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)"	HEGFL, DTS, DTR		7590736, 12163414	Standard	NM_001945		Approved		uc003lfi.3	Q99075	OTTHUMG00000129496	ENST00000230990.6:c.522_525delTCTG	5.37:g.139715494_139715497delCAGA	ENSP00000230990:p.Cys174fs					HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	824_827	-			174					B2R821	Frame_Shift_Del	DEL	ENST00000230990.6	37	c.522_525delTCTG	CCDS4223.1																																																																																				0.554	HBEGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251665.2	NM_001945		11	109						11	109	---	---	---	---	-	139715489	CAGA	-	139715486	7	5	316	1	0	1	0	1	0	0	0	0	6981	697	25	0	109	0	HBEGF	5	139715486	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08	84639658	139715486	41199774	19	31936											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctactcagtctacatcGctgagaacaaccccagaggg	8	14	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:140763850G>A	ENST00000518325.1	+	1	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	462	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)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1384-1386)Gct>Act									64	68	67					5																	140763850		1933	4139	6072	SO:0001583	missense	0							g.chr5:140763850G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1384G>A	5.37:g.140763850G>A	ENSP00000430024:p.Ala462Thr					PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A462T	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1384	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1384G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	1.985	-0.433287	0.04669	.	.	ENSG00000253537	ENST00000518325	T	0.52057	0.68	5.39	1.44	0.22558	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21509	0.0518	N	0.04746	-0.17	0.09310	N	1	B;B	0.18310	0.001;0.027	B;B	0.13407	0.007;0.009	T	0.15492	-1.0435	9	0.33940	T	0.23	.	2.6757	0.05080	0.1263:0.495:0.124:0.2547	.	462;462	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	T	462	ENSP00000430024:A462T	ENSP00000430024:A462T	A	+	1	0	PCDHGA7	140744034	0.000000	0.05858	0.190000	0.23270	0.238000	0.25445	-0.214000	0.09292	0.360000	0.24265	-0.134000	0.14843	GCT		0.522	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		4	60	0	0	0	1	0	4	60					A	140763850	G	A	140763850	3	1	316	1	0	0	0	0	1	0	0	0	11559	1087	38	1	1386	1	PCDHGA7	5	140763850	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	1048364	140763850	40151410	20	31937											
PTPRK	5796	broad.mit.edu	37	chr6	128294828	128294828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagtggataatcgtccGgccttccccttcctcgcatt	9	15	0	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:128294828G>A	ENST00000368215.3	-	28	4110	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368227.3_Missense_Mutation_p.R1389W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1371	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		ATAATCGTCCGGCCTTCCCCT	0.483																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				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						c.(4165-4167)Cgg>Tgg		protein tyrosine phosphatase, receptor type, K							120	104	109					6																	128294828		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294828G>A	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.4111C>T	6.37:g.128294828G>A	ENSP00000357198:p.Arg1371Trp					PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1371W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W	p.R1389W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	29	4531	-			1371			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.4165C>T		.	.	.	.	.	.	.	.	.	.	G	18.97	3.735714	0.69189	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.82	1.71	0.24356	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.86651	2.83	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;0.999;0.998;0.996	T	0.39165	-0.9627	10	0.48119	T	0.1	.	15.9481	0.79809	0.0:0.0:0.4203:0.5797	.	1394;1378;1371;1372	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1372;1389;1394;1378;1390;1371;1404	ENSP00000357209:R1372W;ENSP00000357210:R1389W;ENSP00000432973:R1394W;ENSP00000357196:R1378W;ENSP00000357193:R1390W;ENSP00000357198:R1371W;ENSP00000357190:R1404W	ENSP00000357190:R1404W	R	-	1	2	PTPRK	128336521	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	2.316000	0.43761	0.319000	0.23209	0.655000	0.94253	CGG		0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			5	107	0	0	0	1	0	5	107					A	128294828	G	A	128294828	3	1	316	1	0	0	0	0	1	0	0	0	12805	1115	39	1	220	1	PTPRK	6	128294828	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		128294828	42820239	21	31938											
NPY	4852	broad.mit.edu	37	chr7	24324984	24324984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcgaggacgcaccagCggaggacatggccagatact	15	13	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:24324984C>T	ENST00000407573.1	+	3	415	c.125C>T	c.(124-126)gCg>gTg	p.A42V	NPY_ENST00000405982.1_Missense_Mutation_p.A42V|NPY_ENST00000242152.2_Missense_Mutation_p.A42V			P01303	NPY_HUMAN	neuropeptide Y	42					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.A42V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682																																						ENST00000407573.1																			1	Substitution - Missense(1)	p.A42V(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(124-126)gCg>gTg		neuropeptide Y							82	62	69					7																	24324984		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324984C>T	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.125C>T	7.37:g.24324984C>T	ENSP00000384364:p.Ala42Val					NPY_ENST00000242152.2_Missense_Mutation_p.A42V|NPY_ENST00000405982.1_Missense_Mutation_p.A42V	p.A42V			P01303	NPY_HUMAN			3	415	+			42						Missense_Mutation	SNP	ENST00000407573.1	37	c.125C>T	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480203	0.84747	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.42131	0.98;0.98;0.98	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	.	.	.	0.80722	D	1	P	0.47841	0.901	B	0.37888	0.26	T	0.29549	-1.0008	9	0.45353	T	0.12	-11.1598	20.1986	0.98248	0.0:1.0:0.0:0.0	.	42	P01303	NPY_HUMAN	V	42	ENSP00000242152:A42V;ENSP00000384364:A42V;ENSP00000385282:A42V	ENSP00000242152:A42V	A	+	2	0	NPY	24291509	1.000000	0.71417	0.923000	0.36655	0.679000	0.39708	7.783000	0.85696	2.781000	0.95711	0.650000	0.86243	GCG		0.682	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		7	93	0	0	0	1	0	7	93					T	24324984	C	T	24324984	3	4	316	1	0	0	0	0	1	0	0	0	10607	768	27	1	127	1	NPY	7	24324984	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		24324984	134813679	22	31939											
AUTS2	26053	broad.mit.edu	37	chr7	70229866	70229866	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcttcacacccacccTccagccccccgcacactcac	4	24	2	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:70229866T>C	ENST00000342771.4	+	8	1664	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	448										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)		acacccaccctccagcccccc	0.652																																						ENST00000342771.4																			0				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						c.(1342-1344)cTc>cCc		autism susceptibility candidate 2							77	65	69					7																	70229866		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70229866T>C	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.1343T>C	7.37:g.70229866T>C	ENSP00000344087:p.Leu448Pro					AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	8	1664	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	448					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1343T>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478046	0.84747	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.11821	2.74;2.74	5.38	5.38	0.77491	.	0.189271	0.41097	D	0.000957	T	0.29190	0.0726	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01048	-1.1469	9	.	.	.	-26.4159	14.5974	0.68417	0.0:0.0:0.0:1.0	.	448;448	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	448	ENSP00000385263:L448P;ENSP00000344087:L448P	.	L	+	2	0	AUTS2	69867802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.896000	0.48656	2.046000	0.60703	0.496000	0.49642	CTC		0.652	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			5	43	0	0	0	1	0	5	43					C	70229866	T	C	70229866	3	2	316	1	0	0	0	0	1	0	0	0	1225	1551	54	3	1518	3	AUTS2	7	70229866	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	45904882	70229866	88908797	23	31940											
BAG4	9530	broad.mit.edu	37	chr8	38065246	38065246	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actgtcagactgaagcacccCctcttagggggcaggttcca	11	13	2	2	rs150045830	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:38065246C>G	ENST00000287322.4	+	3	866	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_ENST00000432471.2_Missense_Mutation_p.P163A|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	199					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGAAGCACCCCCTCTTAGGGG	0.488													C|||	7	0.00139776	0.0	0.0029	5008	,	,		18519	0.0		0.004	False		,,,				2504	0.001					ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(595-597)Cct>Gct		BCL2-associated athanogene 4		C	ALA/PRO,ALA/PRO	3,4403	8.1+/-20.4	0,3,2200	72	74	73		487,595	1.4	0.6	8	dbSNP_134	73	43,8557	27.9+/-77.7	0,43,4257	yes	missense,missense	BAG4	NM_001204878.1,NM_004874.3	27,27	0,46,6457	GG,GC,CC		0.5,0.0681,0.3537	probably-damaging,probably-damaging	163/422,199/458	38065246	46,12960	2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38065246C>G	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.595C>G	8.37:g.38065246C>G	ENSP00000287322:p.Pro199Ala					BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.P163A	p.P199A	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			3	866	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	199					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.595C>G	CCDS6104.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	13.33	2.203580	0.38905	6.81E-4	0.005	ENSG00000156735	ENST00000432471;ENST00000287322;ENST00000521311	T;T	0.80304	-1.33;-1.36	5.3	1.37	0.22104	.	0.539837	0.19103	N	0.122658	T	0.65037	0.2653	M	0.63428	1.95	0.22468	N	0.999078	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.56709	-0.7934	10	0.35671	T	0.21	-6.892	3.8699	0.09031	0.1348:0.5888:0.1304:0.1459	.	163;199	B4E217;O95429	.;BAG4_HUMAN	A	163;199;46	ENSP00000393298:P163A;ENSP00000287322:P199A	ENSP00000287322:P199A	P	+	1	0	BAG4	38184403	0.004000	0.15560	0.563000	0.28383	0.910000	0.53928	-0.195000	0.09546	0.194000	0.20326	-0.182000	0.12963	CCT		0.488	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		25	35	0	0	0	1	0	25	35					G	38065246	C	G	38065246	3	3	316	1	0	0	0	0	1	0	0	0	1289	623	22	4	605	4	BAG4	8	38065246	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		38065246	108298776	24	31941											
LYPLA1	10434	broad.mit.edu	37	chr8	54963679	54963679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagaaccaaacatcagggGaaccaaagggtcacaatccc	9	11	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:54963679G>A	ENST00000316963.3	-	8	725	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S|LYPLA1_ENST00000522007.1_Silent_p.F57F	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	178					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATCAGGGGAACCAAAGGG	0.413																																						ENST00000316963.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(532-534)Ccc>Tcc		lysophospholipase I							88	83	85					8																	54963679		2203	4300	6503	SO:0001583	missense	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54963679G>A	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.532C>T	8.37:g.54963679G>A	ENSP00000320043:p.Pro178Ser					LYPLA1_ENST00000522007.1_Silent_p.F57F|LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S	p.P178S	NM_006330.2	NP_006321.1	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		8	725	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	178					O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	c.532C>T	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226687	0.58668	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000521171;ENST00000518546	T;T;T	0.33865	1.39;1.39;1.39	4.88	4.88	0.63580	Phospholipase/carboxylesterase/thioesterase (1);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.73319	2.225	0.80722	D	1	B;B;B	0.34349	0.45;0.363;0.371	P;B;B	0.46452	0.517;0.305;0.359	T	0.54549	-0.8277	10	0.49607	T	0.09	-0.2061	18.01	0.89220	0.0:0.0:1.0:0.0	.	144;162;178	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	S	178;144;162;87;162	ENSP00000320043:P178S;ENSP00000344477:P162S;ENSP00000428729:P162S	ENSP00000320043:P178S	P	-	1	0	LYPLA1	55126232	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.717000	0.98755	2.419000	0.82065	0.650000	0.86243	CCC		0.413	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			5	88	0	0	0	1	0	5	88					A	54963679	G	A	54963679	3	1	316	1	0	0	0	0	1	0	0	0	9116	1174	41	2	168	2	LYPLA1	8	54963679	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	16898433	54963679	91400343	25	31942											
HDHD3	81932	broad.mit.edu	37	chr9	116136465	116136465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagttggggaagctgtggCtctgagccctgtatgcctgc	15	10	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:116136465C>T	ENST00000238379.5	-	2	1067	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	57						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GAAGCTGTGGCTCTGAGCCCT	0.657																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3						c.(169-171)aGc>aAc		haloacid dehalogenase-like hydrolase domain containing 3							53	44	47					9																	116136465		2203	4300	6503	SO:0001583	missense	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136465C>T	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 158"	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.170G>A	9.37:g.116136465C>T	ENSP00000238379:p.Ser57Asn					HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N|HDHD3_ENST00000485934.1_5'UTR	p.S57N	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN			2	1067	-			57					B2RD47	Missense_Mutation	SNP	ENST00000238379.5	37	c.170G>A	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	C	8.965	0.971415	0.18736	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	T;T	0.42513	0.97;0.97	5.95	1.61	0.23674	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.184945	0.64402	N	0.000019	T	0.29423	0.0733	L	0.39566	1.225	0.58432	D	0.999999	B	0.17268	0.021	B	0.15870	0.014	T	0.08659	-1.0711	10	0.12430	T	0.62	-10.1386	11.3884	0.49800	0.0:0.7174:0.0:0.2826	.	57	Q9BSH5	HDHD3_HUMAN	N	57	ENSP00000238379:S57N;ENSP00000363295:S57N	ENSP00000238379:S57N	S	-	2	0	HDHD3	115176286	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	1.397000	0.34543	0.436000	0.26393	-0.136000	0.14681	AGC		0.657	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		26	37	0	0	0	1	0	26	37					T	116136465	C	T	116136465	3	4	316	1	0	0	0	0	1	0	0	0	7024	797	28	2	589	2	HDHD3	9	116136465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		116136465	25076966	26	31943											
TCF7L2	6934	broad.mit.edu	37	chr10	114911515	114911517	+	In_Frame_Del	DEL	AAG	AAG	-													actccaaaaaggaagaagaaAagaagaagccccacataaag							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr10:114911515_114911517delAAG	ENST00000355995.4	+	10	1540_1542	c.1033_1035delAAG	c.(1033-1035)aagdel	p.K347del	TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000545257.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000369386.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	347	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGAAGAAGAAAAGAAGAAGCCCC	0.443			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1033-1035)del		transcription factor 7-like 2 (T-cell specific, HMG-box)																																				SO:0001651	inframe_deletion	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114911515_114911517delAAG	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1033_1035delAAG	10.37:g.114911521_114911523delAAG	ENSP00000348274:p.Lys347del					TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355995.4_In_Frame_Del_p.K347del|TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del	p.K347del			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	10	1540_1542	+		Breast(234;0.058)|Colorectal(252;0.0615)	347			Mediates interaction with MAD2L2.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	In_Frame_Del	DEL	ENST00000355995.4	37	c.1033_1035delAAG																																																																																					0.443	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		19	56						19	56	---	---	---	---	-	114911517	AAG	-	114911515	7	5	316	1	0	1	0	1	0	0	0	0	15695	15	1	0	1216	0	TCF7L2	10	114911515	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08		114911515	20623232	27	31944											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	9	11	0	0	rs559230605	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84	93	90					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"cerebello-oculo-renal syndrome 2", "Meckel syndrome, type 2"	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	16	35	0	0	0	1	0	16	35					G	61161357	T	G	61161357	5	3	316	1	0	0	0	0	0	0	1	0	16136	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		61161357	73845159	28	31945											
NUMA1	4926	broad.mit.edu	37	chr11	71733448	71733448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcatggtagagtggtaTaagagcagcatggtcatcta	13	6	3	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:71733448T>G	ENST00000393695.3	-	7	640	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	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						TAGAGTGGTATAAGAGCAGCA	0.522			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				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						c.(307-309)ttA>ttC		nuclear mitotic apparatus protein 1							144	146	146					11																	71733448		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71733448T>G	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.309A>C	11.37:g.71733448T>G	ENSP00000377298:p.Leu103Phe					NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	p.L103F	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			7	640	-			103						Missense_Mutation	SNP	ENST00000393695.3	37	c.309A>C	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616097	0.46631	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.03	-4.7	0.03288	.	0.106599	0.40728	N	0.001028	T	0.62454	0.2429	L	0.36672	1.1	0.23869	N	0.996612	D;P;P;P;D;P	0.89917	1.0;0.946;0.946;0.703;1.0;0.703	D;P;P;B;D;B	0.91635	0.999;0.509;0.509;0.276;0.997;0.276	T	0.60672	-0.7217	10	0.24483	T	0.36	.	12.1596	0.54098	0.0:0.5863:0.1955:0.2182	.	103;103;103;103;103;103	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	F	103	ENSP00000260051:L103F;ENSP00000351851:L103F;ENSP00000377298:L103F;ENSP00000444880:L103F;ENSP00000442936:L103F;ENSP00000442761:L103F;ENSP00000439759:L103F;ENSP00000438821:L103F;ENSP00000438589:L103F;ENSP00000439092:L103F;ENSP00000444175:L103F;ENSP00000439576:L103F	ENSP00000260051:L103F	L	-	3	2	NUMA1	71411096	0.072000	0.21174	0.407000	0.26434	0.975000	0.68041	-1.383000	0.02544	-1.020000	0.03354	-0.261000	0.10672	TTA		0.522	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			6	189	0	0	0	1	0	6	189					G	71733448	T	G	71733448	3	3	316	1	0	0	0	0	1	0	0	0	10750	1403	49	5	6122	5	NUMA1	11	71733448	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	10572091	71733448	63273068	29	31946											
SERPINH1	871	broad.mit.edu	37	chr11	75277978	75277978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaggacgtggagcgcaCggacggcgccctgctagtca	14	14	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:75277978C>T	ENST00000524558.1	+	2	2019	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGAGCGCACGGACGGCGCC	0.662																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(583-585)aCg>aTg		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							34	33	33					11																	75277978		2200	4291	6491	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75277978C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.584C>T	11.37:g.75277978C>T	ENSP00000434412:p.Thr195Met					SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M	p.T195M			P50454	SERPH_HUMAN			2	2019	+	Ovarian(111;0.11)		195					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.584C>T	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057063	0.36277	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526397;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525611;ENST00000528760	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	4.66	4.66	0.58398	Serpin domain (3);	0.104475	0.64402	D	0.000005	T	0.77585	0.4152	L	0.29908	0.895	0.80722	D	1	P;P	0.40660	0.726;0.476	B;B	0.31495	0.131;0.057	T	0.78041	-0.2359	10	0.30078	T	0.28	.	15.0624	0.71964	0.0:1.0:0.0:0.0	.	195;195	E9PPV6;P50454	.;SERPH_HUMAN	M	195;195;195;174;195;195;195;195;195	ENSP00000434657:T195M;ENSP00000350894:T195M;ENSP00000434964:T195M;ENSP00000436305:T195M;ENSP00000436040:T195M;ENSP00000434412:T195M;ENSP00000435452:T195M;ENSP00000437108:T195M	ENSP00000350894:T195M	T	+	2	0	SERPINH1	74955626	1.000000	0.71417	0.920000	0.36463	0.871000	0.50021	5.954000	0.70298	2.140000	0.66376	0.563000	0.77884	ACG		0.662	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		28	85	0	0	0	1	0	28	85					T	75277978	C	T	75277978	3	4	316	1	0	0	0	0	1	0	0	0	14117	536	19	1	586	1	SERPINH1	11	75277978	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3544530	75277978	59728538	30	31947											
NFRKB	4798	broad.mit.edu	37	chr11	129758574	129758574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctaagatgagttcattctgCtgctcagcactgtcttcagg	10	10	5	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:129758574C>A	ENST00000446488.3	-	3	355	c.252G>T	c.(250-252)caG>caT	p.Q84H	NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	84					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCATTCTGCTGCTCAGCAC	0.488																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(250-252)caG>caT		nuclear factor related to kappaB binding protein							111	101	105					11																	129758574		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129758574C>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.252G>T	11.37:g.129758574C>A	ENSP00000400476:p.Gln84His					NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H	p.Q84H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	3	355	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	84					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.252G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258218	0.39896	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884	.	.	.	5.77	4.86	0.63082	.	0.111040	0.64402	D	0.000007	T	0.41166	0.1147	L	0.38953	1.18	0.44946	D	0.997967	B;B;B;B	0.12630	0.006;0.003;0.005;0.005	B;B;B;B	0.12156	0.003;0.003;0.007;0.007	T	0.36359	-0.9751	9	0.33141	T	0.24	-16.8125	3.0375	0.06127	0.1537:0.5635:0.1315:0.1513	.	84;84;84;97	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	84;84;97;84;84;84;84;84;84	.	ENSP00000303800:Q84H	Q	-	3	2	NFRKB	129263784	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	0.799000	0.27028	1.451000	0.47736	0.650000	0.86243	CAG		0.488	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		4	79	1	0	0.150653	1	0.150653	4	79					A	129758574	C	A	129758574	3	1	316	1	0	0	0	0	1	0	0	0	10384	796	28	4	3779	4	NFRKB	11	129758574	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54480596	129758574	5247942	31	31948											
ACSM4	341392	broad.mit.edu	37	chr12	7457055	7457055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactttgaagccataaatcGctgtaacaggccattgccta	8	10	0	2	rs201026673		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr12:7457055G>A	ENST00000399422.4	+	1	176	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	43					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						GCCATAAATCGCTGTAACAGG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(127-129)cGc>cAc		acyl-CoA synthetase medium-chain family member 4							130	125	126					12																	7457055		1942	4147	6089	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7457055G>A		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.128G>A	12.37:g.7457055G>A	ENSP00000382349:p.Arg43His						p.R43H	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			1	176	+			43					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.128G>A	CCDS44825.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.924	0.961790	0.18583	.	.	ENSG00000215009	ENST00000399422	T	0.10960	2.82	4.85	1.84	0.25277	.	0.903514	0.09066	U	0.853644	T	0.07503	0.0189	N	0.12182	0.205	0.32346	N	0.559117	B	0.16166	0.016	B	0.13407	0.009	T	0.23726	-1.0180	10	0.40728	T	0.16	-19.6987	12.2008	0.54323	0.0:0.0:0.4109:0.5891	.	43	P0C7M7	ACSM4_HUMAN	H	43	ENSP00000382349:R43H	ENSP00000382349:R43H	R	+	2	0	ACSM4	7348322	0.238000	0.23825	0.997000	0.53966	0.218000	0.24690	0.254000	0.18314	0.252000	0.21531	0.655000	0.94253	CGC		0.483	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		5	149	0	0	0	1	0	5	149					A	7457055	G	A	7457055	3	1	316	1	0	0	0	0	1	0	0	0	186	1087	38	1	130	1	ACSM4	12	7457055	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		7457055	126394840	32	31949											
IPO4	79711	broad.mit.edu	37	chr14	24651580	24651580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggatggcctctccagcGtgctccagcaacatggcgtc	13	14	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:24651580G>A	ENST00000354464.6	-	25	2678	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	834					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)		CCTCTCCAGCGTGCTCCAGCA	0.622																																						ENST00000354464.6																			0				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						c.(2500-2502)caC>caT		importin 4							22	26	25					14																	24651580		2095	4220	6315	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24651580G>A	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.2502C>T	14.37:g.24651580G>A						RP11-468E2.2_ENST00000561419.1_3'UTR	p.H834H	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	25	2678	-			834					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.2502C>T	CCDS9616.1																																																																																				0.622	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		17	27	0	0	0	1	0	17	27					A	24651580	G	A	24651580	2	1	316	1	0	0	0	0	0	0	0	1	7795	1136	40	1		1	IPO4	14	24651580	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		24651580	82697960	33	31950											
GZMB	3002	broad.mit.edu	37	chr14	25102230	25102230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagataagccatgtaggggcGggagtggggcttggcctcat	17	7	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:25102230G>A	ENST00000216341.4	-	2	200	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|RP11-104E19.1_ENST00000557736.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	32	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			RP -> PR (in Ref. 12; AA sequence). {ECO:0000305}.	apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		ATGTAGGGGCGGGAGTGGGGC	0.562																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(94-96)Cgc>Tgc		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)							113	114	114					14																	25102230		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102230G>A	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"fragmentin 2", "cytotoxic serine protease B", "cathepsin G-like 1", "T-cell serine protease 1-3E"	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.94C>T	14.37:g.25102230G>A	ENSP00000216341:p.Arg32Cys					GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C	p.R32C			P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	2	200	-			32	RP -> PR (in Ref. 12; AA sequence).		Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.94C>T	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279768	0.59758	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000526004	T;D;D;T;D	0.92965	0.25;-3.14;-3.14;1.53;-1.52	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33290	N	0.005070	D	0.93226	0.7842	L	0.58583	1.82	0.42936	D	0.994331	D;D	0.56746	0.977;0.965	P;P	0.54889	0.763;0.632	D	0.93658	0.6979	10	0.87932	D	0	.	14.0772	0.64897	0.0:0.0:1.0:0.0	.	20;32	Q6XGZ4;P10144	.;GRAB_HUMAN	C	20;32;66;32;32	ENSP00000387385:R20C;ENSP00000216341:R32C;ENSP00000371982:R66C;ENSP00000371980:R32C;ENSP00000434213:R32C	ENSP00000216341:R32C	R	-	1	0	GZMB	24172070	0.871000	0.30034	0.660000	0.29694	0.980000	0.70556	1.696000	0.37773	2.785000	0.95823	0.655000	0.94253	CGC		0.562	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		6	200	0	0	0	1	0	6	200					A	25102230	G	A	25102230	3	1	316	1	0	0	0	0	1	0	0	0	6916	1116	39	1	665	1	GZMB	14	25102230	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	450650	25102230	82247310	34	31951											
FKBP3	2287	broad.mit.edu	37	chr14	45590142	45590144	+	In_Frame_Del	DEL	TTC	TTC	-													aacttaaaggcttggcatttTtcttcttctttgcacctgta							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:45590142_45590144delTTC	ENST00000216330.3	-	6	878_880	c.468_470delGAA	c.(466-471)aagaaa>aaa	p.156_157KK>K	FKBP3_ENST00000396062.3_In_Frame_Del_p.156_157KK>K			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	156	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGGCATTTTTCTTCTTCTTTG	0.32																																						ENST00000216330.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(466-471)aaa>aa		FK506 binding protein 3, 25kDa																																				SO:0001651	inframe_deletion	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45590142_45590144delTTC	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"FK506-binding protein 3 (25kD)"			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.468_470delGAA	14.37:g.45590148_45590150delTTC	ENSP00000216330:p.Lys157del					FKBP3_ENST00000396062.3_In_Frame_Del_p.KK156del	p.KK156del			Q00688	FKBP3_HUMAN			6	878_880	-			156			PPIase FKBP-type.		B2R4Q9|Q14317	In_Frame_Del	DEL	ENST00000216330.3	37	c.468_470delGAA	CCDS9683.1																																																																																				0.32	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		23	57						23	57	---	---	---	---	-	45590144	TTC	-	45590142	7	5	316	1	0	1	0	1	0	0	0	0	5909	1841	64	0	216	0	FKBP3	14	45590142	In_Frame_Del	DEL	TTC	TCGA-HT-A5R9-01A-11D-A289-08	20487912	45590142	61759398	35	31952											
BCL11B	64919	broad.mit.edu	37	chr14	99641424	99641424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcagccagcgccttggcCgcgccgccccccgcgcccgg	13	22	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:99641424C>T	ENST00000357195.3	-	4	1758	c.1749G>A	c.(1747-1749)gcG>gcA	p.A583A	BCL11B_ENST00000345514.2_Silent_p.A512A|BCL11B_ENST00000443726.2_Silent_p.A389A	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	583	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1534-1536)gcG>gcA		B-cell CLL/lymphoma 11B (zinc finger protein)							12	14	13					14																	99641424		2078	4016	6094	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641424C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1749G>A	14.37:g.99641424C>T						BCL11B_ENST00000443726.2_Silent_p.A389A|BCL11B_ENST00000357195.3_Silent_p.A583A	p.A512A	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1802	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	583					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1536G>A	CCDS9950.1																																																																																				0.731	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		25	26	0	0	0	1	0	25	26					T	99641424	C	T	99641424	2	4	316	1	0	0	0	0	0	0	0	1	1364	639	23	1		1	BCL11B	14	99641424	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54051282	99641424	7708116	36	31953											
PML	5371	broad.mit.edu	37	chr15	74290533	74290533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacacccgccctggataaCgtctttttcgagagtctgca	9	13	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:74290533C>T	ENST00000268058.3	+	2	414	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_ENST00000565898.1_Silent_p.N106N|PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	106					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						CCCTGGATAACGTCTTTTTCG	0.642			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				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						c.(316-318)aaC>aaT		promyelocytic leukemia							50	45	47					15																	74290533		2198	4297	6495	SO:0001819	synonymous_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74290533C>T	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.318C>T	15.37:g.74290533C>T						PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000268058.3_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N	p.N106N			P29590	PML_HUMAN			2	402	+			106					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.318C>T	CCDS10255.1																																																																																				0.642	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		5	77	0	0	0	1	0	5	77					T	74290533	C	T	74290533	2	4	316	1	0	0	0	0	0	0	0	1	12135	535	19	1		1	PML	15	74290533	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		74290533	28240859	37	31954											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	17	10	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000539790.1_Missense_Mutation_p.R42G|IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		14	Substitution - Missense(14)	p.R172W(12)|p.R172G(2)	central_nervous_system(9)|biliary_tract(5)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)Agg>Ggg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							86	81	83					15																	90631839		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631839T>C		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.514A>G	15.37:g.90631839T>C	ENSP00000331897:p.Arg172Gly					IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G	p.R172G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	627	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.514A>G	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210612	0.39102	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86956	-2.19;-2.19;-2.19	5.93	0.717	0.18196	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	H	0.98487	4.245	0.51767	D	0.999936	D	0.89917	1.0	D	0.97110	1.0	D	0.95508	0.8583	10	0.87932	D	0	.	13.7144	0.62687	0.0:0.0:0.4915:0.5085	.	172	P48735	IDHP_HUMAN	G	172;42;120	ENSP00000331897:R172G;ENSP00000438457:R42G;ENSP00000446147:R120G	ENSP00000331897:R172G	R	-	1	2	IDH2	88432843	1.000000	0.71417	0.032000	0.17829	0.002000	0.02628	1.525000	0.35953	-0.113000	0.11958	-0.466000	0.05196	AGG		0.627	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			37	56	0	0	0	1	0	37	56					C	90631839	T	C	90631839	3	2	316	1	0	0	0	0	1	0	0	0	7495	1579	55	3	876	3	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	16341306	90631839	11899553	38	31955											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	13	13	2	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|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 establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(103-105)tGt>tTt		calcium and integrin binding 1 (calmyrin)							49	48	48					15																	90775542		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775542C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.104G>T	15.37:g.90775542C>A	ENSP00000333873:p.Cys35Phe						p.C35F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	265	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		35					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.104G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833964	0.16820	.	.	ENSG00000185043	ENST00000328649	T	0.09073	3.02	5.54	3.54	0.40534	EF-hand-like domain (1);	0.296074	0.39687	N	0.001295	T	0.07143	0.0181	L	0.34521	1.04	0.35816	D	0.824264	B	0.27700	0.186	B	0.33690	0.168	T	0.25117	-1.0141	10	0.11485	T	0.65	-6.3598	10.3555	0.43960	0.1513:0.7031:0.1456:0.0	.	35	Q99828	CIB1_HUMAN	F	35	ENSP00000333873:C35F	ENSP00000333873:C35F	C	-	2	0	CIB1	88576546	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.553000	0.23391	1.543000	0.49345	0.650000	0.86243	TGT		0.587	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			7	39	1	0	9.80977e-26	1	1.07133e-25	7	39					A	90775542	C	A	90775542	3	1	316	1	0	0	0	0	1	0	0	0	3420	478	17	4	491	4	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	143703	90775542	11755850	39	31956											
A2BP1	54715	broad.mit.edu	37	chr16	7568267	7568267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctcatccccaccccgCgccagagtacacaggccaga	9	20	1	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr16:7568267C>T	ENST00000550418.1	+	5	1134	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A54V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(160-162)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							116	113	114					16																	7568267		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568267C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.146C>T	16.37:g.7568267C>T	ENSP00000450031:p.Ala49Val					RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V	p.A54V			Q9NWB1	RFOX1_HUMAN			2	458	+			49					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.161C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044648	0.75732	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.35048	1.84;1.38;1.7;1.66;1.67;1.77;1.38;1.44;1.61;1.58;1.33	4.85	4.85	0.62838	.	0.296529	0.32244	N	0.006367	T	0.28532	0.0706	N	0.08118	0	0.44359	D	0.997252	P;D;P;P;B;D;B;B;D	0.62365	0.533;0.991;0.936;0.759;0.278;0.985;0.24;0.351;0.969	B;P;B;B;B;B;B;B;P	0.47891	0.091;0.481;0.173;0.245;0.157;0.352;0.065;0.109;0.56	T	0.23797	-1.0178	10	0.46703	T	0.11	-2.3794	17.9952	0.89181	0.0:1.0:0.0:0.0	.	69;85;92;69;69;69;49;49;92	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	49;49;49;92;92;85;85;49;49;69;69;69;69;54	ENSP00000450402:A49V;ENSP00000450031:A49V;ENSP00000447753:A49V;ENSP00000446842:A92V;ENSP00000391269:A92V;ENSP00000447281:A49V;ENSP00000447717:A49V;ENSP00000402745:A69V;ENSP00000309117:A69V;ENSP00000347855:A69V;ENSP00000344196:A54V	ENSP00000309117:A69V	A	+	2	0	RBFOX1	7508268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.970000	0.76099	2.222000	0.72286	0.557000	0.71058	GCG		0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		108	153	0	0	0	1	0	108	153					T	7568267	C	T	7568267	3	4	316	1	0	0	0	0	1	0	0	0	3	768	27	1	243	1	A2BP1	16	7568267	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		7568267	82786486	40	31957											
MYO15A	51168	broad.mit.edu	37	chr17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagggggaggccagcccGgtggaggcagcagtagtggt	20	7	0	1	rs530783345		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	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)					AGGCCAGCCCGGTGGAGGCAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17268	0.001		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				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						c.(7267-7269)Ggt>Agt		myosin XVA							63	79	74					17																	18053797		2126	4246	6372	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18053797G>A	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.7267G>A	17.37:g.18053797G>A	ENSP00000205890:p.Gly2423Ser						p.G2423S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			36	7605	+	all_neural(463;0.228)		2423			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7267G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.175990	0.21704	.	.	ENSG00000091536	ENST00000205890	D	0.90324	-2.65	4.67	-0.308	0.12773	.	.	.	.	.	D	0.86393	0.5922	L	0.53249	1.67	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.73569	-0.3941	9	0.33940	T	0.23	.	10.9018	0.47056	0.2928:0.0:0.7072:0.0	.	2423	Q9UKN7	MYO15_HUMAN	S	2423	ENSP00000205890:G2423S	ENSP00000205890:G2423S	G	+	1	0	MYO15A	17994522	0.084000	0.21492	0.185000	0.23176	0.113000	0.19764	1.122000	0.31295	0.078000	0.16900	-1.810000	0.00614	GGT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		33	64	0	0	0	1	0	33	64					A	18053797	G	A	18053797	3	1	316	1	0	0	0	0	1	0	0	0	10063	1116	39	1	7401	1	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		18053797	63141413	41	31958											
LGALS9C	654346	broad.mit.edu	37	chr17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcactgtcaatggggccGttctcagctgcagtggaacc	12	11	3	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.(109-111)Gtt>Att		lectin, galactoside-binding, soluble, 9C							178	120	141					17																	18387258		2133	3742	5875	SO:0001583	missense	654346						sugar binding	g.chr17:18387258G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.109G>A	17.37:g.18387258G>A	ENSP00000329932:p.Val37Ile					LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I	p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			2	190	+			37			Galectin 1.		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.109G>A	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	6.966	0.548264	0.13312	.	.	ENSG00000171916	ENST00000328114	T	0.14516	2.5	2.77	-2.66	0.06077	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.332246	0.26891	N	0.021980	T	0.11067	0.0270	L	0.36672	1.1	0.09310	N	1	B	0.18013	0.025	B	0.35073	0.195	T	0.30446	-0.9978	10	0.46703	T	0.11	.	6.8506	0.24012	0.4472:0.0:0.5528:0.0	.	37	Q6DKI2	LEG9C_HUMAN	I	37	ENSP00000329932:V37I	ENSP00000329932:V37I	V	+	1	0	LGALS9C	18327983	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.527000	0.06200	-0.631000	0.05560	0.184000	0.17185	GTT		0.562	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		7	90	0	0	0	1	0	7	90					A	18387258	G	A	18387258	3	1	316	1	0	0	0	0	1	0	0	0	8750	1145	40	1	115	1	LGALS9C	17	18387258	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	333461	18387258	62807952	42	31959											
KCNH4	23415	broad.mit.edu	37	chr17	40322247	40322247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgcgatgtaggcgctgCgccgtgatgggccgcccacc	16	15	0	1	rs369685674		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:40322247C>T	ENST00000264661.3	-	8	1600	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	423					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)		GTAGGCGCTGCGCCGTGATGG	0.622																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1267-1269)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	HIS/ARG	0,4406		0,0,2203	59	47	51		1268	4	1	17		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNH4	NM_012285.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	423/1018	40322247	1,13005	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40322247C>T	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.1268G>A	17.37:g.40322247C>T	ENSP00000264661:p.Arg423His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	8	1600	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	423						Missense_Mutation	SNP	ENST00000264661.3	37	c.1268G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327853	0.41197	0.0	1.16E-4	ENSG00000089558	ENST00000264661	D	0.98455	-4.94	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.37304	N	0.002150	D	0.96134	0.8740	L	0.41492	1.28	0.49798	D	0.999825	B	0.34399	0.452	B	0.34779	0.189	D	0.96197	0.9142	10	0.46703	T	0.11	.	16.5324	0.84365	0.0:1.0:0.0:0.0	.	423	Q9UQ05	KCNH4_HUMAN	H	423	ENSP00000264661:R423H	ENSP00000264661:R423H	R	-	2	0	KCNH4	37575773	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	4.830000	0.62745	2.195000	0.70347	0.313000	0.20887	CGC		0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		20	35	0	0	0	1	0	20	35					T	40322247	C	T	40322247	3	4	316	1	0	0	0	0	1	0	0	0	8034	768	27	1	1821	1	KCNH4	17	40322247	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	21934989	40322247	40872963	43	31960											
SP6	80320	broad.mit.edu	37	chr17	45925200	45925200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctggaatccagcccttgaGactccggggcggctacttcc	13	14	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45925200G>A	ENST00000536300.1	-	2	927	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_ENST00000342234.2_Missense_Mutation_p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	199					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGCCCTTGAGACTCCGGGGC	0.716																																						ENST00000536300.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(595-597)tCt>tTt		Sp6 transcription factor							5	6	6					17																	45925200		1847	3797	5644	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45925200G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.596C>T	17.37:g.45925200G>A	ENSP00000438209:p.Ser199Phe					SP6_ENST00000342234.2_Missense_Mutation_p.S199F	p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN			2	927	-			199					B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.596C>T	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968108	0.53614	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08720	3.06;3.06	4.5	4.5	0.54988	.	0.364590	0.20211	N	0.096909	T	0.08447	0.0210	L	0.34521	1.04	0.42739	D	0.993737	B	0.22604	0.072	B	0.20384	0.029	T	0.26608	-1.0098	10	0.27785	T	0.31	.	16.1357	0.81487	0.0:0.0:1.0:0.0	.	199	Q3SY56	SP6_HUMAN	F	199	ENSP00000340799:S199F;ENSP00000438209:S199F	ENSP00000340799:S199F	S	-	2	0	SP6	43280199	0.349000	0.24870	0.999000	0.59377	0.965000	0.64279	3.193000	0.50997	2.324000	0.78689	0.462000	0.41574	TCT		0.716	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		11	15	0	0	0	1	0	11	15					A	45925200	G	A	45925200	3	1	316	1	0	0	0	0	1	0	0	0	14968	942	33	2	538	2	SP6	17	45925200	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	5602953	45925200	35270010	44	31961											
TRIM37	4591	broad.mit.edu	37	chr17	57153020	57153020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcacctggtgctccacCtcctgaagtaaggattccaa	7	13	2	1	rs185620415		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:57153020C>A	ENST00000262294.7	-	8	931	c.672G>T	c.(670-672)gaG>gaT	p.E224D	TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D|TRIM37_ENST00000376149.3_Missense_Mutation_p.E102D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	224					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)					GGTGCTCCACCTCCTGAAGTA	0.323									Mulibrey Nanism																													ENST00000376149.3																			0				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						c.(304-306)gaG>gaT		tripartite motif containing 37							88	83	85					17																	57153020		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57153020C>A	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.672G>T	17.37:g.57153020C>A	ENSP00000262294:p.Glu224Asp					TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D|TRIM37_ENST00000262294.7_Missense_Mutation_p.E224D	p.E102D			O94972	TRI37_HUMAN			8	1115	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		224					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.306G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811165	0.32053	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.68624	1.43;1.43;-0.34;1.05	5.4	0.807	0.18714	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	L	0.42245	1.32	0.44587	D	0.997553	P;D;B	0.71674	0.708;0.998;0.023	B;D;B	0.77557	0.269;0.99;0.05	T	0.64997	-0.6275	10	0.41790	T	0.15	-8.1696	8.8197	0.35018	0.0:0.4215:0.0:0.5785	.	190;102;224	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	D	224;224;102;190	ENSP00000376785:E224D;ENSP00000262294:E224D;ENSP00000365319:E102D;ENSP00000376784:E190D	ENSP00000262294:E224D	E	-	3	2	TRIM37	54507802	0.995000	0.38212	0.998000	0.56505	0.988000	0.76386	0.334000	0.19787	-0.066000	0.12998	0.585000	0.79938	GAG		0.323	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		3	39	1	0	0.00909568	1	0.00932026	3	39					A	57153020	C	A	57153020	3	1	316	1	0	0	0	0	1	0	0	0	16508	680	24	4	2298	4	TRIM37	17	57153020	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	11227820	57153020	24042190	45	31962											
KIAA0427	9811	broad.mit.edu	37	chr18	46284511	46284511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaggcaggcgcacaccGcaatgccaaagagaccatga	15	11	0	2	rs373686942		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:46284511G>A	ENST00000256413.3	+	8	1101	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	269	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						GGCGCACACCGCAATGCCAAA	0.642																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(805-807)cGc>cAc		CBP80/20-dependent translation initiation factor		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92	86	88		806,806	5.2	1	18		88	0,8600		0,0,4300	no	missense,missense	CTIF	NM_001142397.1,NM_014772.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	269/601,269/599	46284511	1,13005	2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284511G>A	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.806G>A	18.37:g.46284511G>A	ENSP00000256413:p.Arg269His					CTIF_ENST00000382998.4_Missense_Mutation_p.R269H	p.R269H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1101	+			269			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.806G>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315040	0.81358	2.27E-4	0.0	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.53423	0.62;0.62	5.19	5.19	0.71726	.	0.526840	0.20022	N	0.100884	T	0.47581	0.1453	L	0.40543	1.245	0.41689	D	0.989338	P;P	0.52170	0.951;0.832	P;B	0.46076	0.503;0.306	T	0.53892	-0.8374	10	0.87932	D	0	-14.0903	16.9045	0.86123	0.0:0.0:1.0:0.0	.	269;269	O43310-2;O43310	.;CTIF_HUMAN	H	269;269;221	ENSP00000256413:R269H;ENSP00000372459:R269H	ENSP00000256413:R269H	R	+	2	0	CTIF	44538509	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.058000	0.64300	2.416000	0.81992	0.561000	0.74099	CGC		0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		5	82	0	0	0	1	0	5	82					A	46284511	G	A	46284511	3	1	316	1	0	0	0	0	1	0	0	0	8176	1087	38	1	832	1	KIAA0427	18	46284511	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		46284511	31792737	46	31963											
MYO5B	4645	broad.mit.edu	37	chr18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaagggcagctggttgcGttgtacatcaattgggtatt	13	5	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:47566657G>A	ENST00000285039.7	-	3	465	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	56					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(166-168)Cgc>Tgc		myosin VB							285	276	279					18																	47566657		1969	4164	6133	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47566657G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.166C>T	18.37:g.47566657G>A	ENSP00000285039:p.Arg56Cys						p.R56C	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	3	465	-			56			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.166C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648194	0.29336	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.95342	-3.68	5.95	0.703	0.18116	.	0.983709	0.08333	N	0.962025	D	0.87414	0.6171	N	0.11560	0.145	0.09310	N	1	P;B	0.45715	0.865;0.002	P;B	0.46339	0.513;0.0	T	0.80261	-0.1456	10	0.54805	T	0.06	.	1.3274	0.02128	0.2283:0.1346:0.1268:0.5103	.	55;56	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	C	56;55	ENSP00000285039:R56C	ENSP00000285039:R56C	R	-	1	0	MYO5B	45820655	0.000000	0.05858	0.046000	0.18839	0.074000	0.17049	-0.017000	0.12590	0.165000	0.19558	-1.480000	0.00990	CGC		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			121	225	0	0	0	1	0	121	225					A	47566657	G	A	47566657	3	1	316	1	0	0	0	0	1	0	0	0	10079	1145	40	1	5532	1	MYO5B	18	47566657	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	1282146	47566657	30510591	47	31964											
SOCS6	9306	broad.mit.edu	37	chr18	67993430	67993430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcgttttgttatacGtcagtataccagaatagact	8	8	1	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:67993430G>A	ENST00000397942.3	+	2	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	509	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)				TTTGTTATACGTCAGTATACC	0.468																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(1525-1527)cGt>cAt		suppressor of cytokine signaling 6							87	75	79					18																	67993430		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993430G>A	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.1526G>A	18.37:g.67993430G>A	ENSP00000381034:p.Arg509His					SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1842	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	509			SOCS box.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1526G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093985	0.56075	.	.	ENSG00000170677	ENST00000397942	T	0.64618	-0.11	5.7	4.84	0.62591	SOCS protein, C-terminal (4);	0.182929	0.47093	N	0.000259	T	0.65238	0.2672	M	0.79614	2.46	0.80722	D	1	B	0.23316	0.083	B	0.26770	0.073	T	0.64571	-0.6376	10	0.46703	T	0.11	-11.9494	14.7201	0.69300	0.0695:0.0:0.9305:0.0	.	509	O14544	SOCS6_HUMAN	H	509	ENSP00000381034:R509H	ENSP00000381034:R509H	R	+	2	0	SOCS6	66144410	1.000000	0.71417	0.961000	0.40146	0.446000	0.32137	9.680000	0.98651	1.412000	0.46977	-0.258000	0.10820	CGT		0.468	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			34	51	0	0	0	1	0	34	51					A	67993430	G	A	67993430	3	1	316	1	0	0	0	0	1	0	0	0	14918	1145	40	1	1528	1	SOCS6	18	67993430	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	20426773	67993430	10083818	48	31965											
TRMT1	55621	broad.mit.edu	37	chr19	13220750	13220750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgctggggactcctgacGctttgccgagacgctgaagg	16	12	0	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:13220750G>A	ENST00000592062.1	-	10	1655	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V|TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	362	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						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)		GACTCCTGACGCTTTGCCGAG	0.652																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1084-1086)gCg>gTg		tRNA methyltransferase 1 homolog (S. cerevisiae)							60	68	65					19																	13220750		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220750G>A	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.1085C>T	19.37:g.13220750G>A	ENSP00000466967:p.Ala362Val					TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V|TRMT1_ENST00000221504.8_Intron	p.A362V			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	10	1655	-			362					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1085C>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576005	0.28092	.	.	ENSG00000104907	ENST00000357720;ENST00000437766	.	.	.	4.49	4.49	0.54785	.	0.257891	0.38720	N	0.001585	T	0.20210	0.0486	N	0.11651	0.15	0.28063	N	0.932876	B	0.13145	0.007	B	0.09377	0.004	T	0.10847	-1.0612	9	0.02654	T	1	-17.3051	12.5341	0.56133	0.0:0.0:1.0:0.0	.	362	Q9NXH9	TRM1_HUMAN	V	362	.	ENSP00000350352:A362V	A	-	2	0	TRMT1	13081750	0.006000	0.16342	0.609000	0.28983	0.093000	0.18481	0.073000	0.14640	2.339000	0.79563	0.462000	0.41574	GCG		0.652	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	171	0	0	0	1	0	10	171					A	13220750	G	A	13220750	3	1	316	1	0	0	0	0	1	0	0	0	16558	1087	38	1	930	1	TRMT1	19	13220750	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		13220750	45908233	49	31966											
NOTCH3	4854	broad.mit.edu	37	chr19	15271838	15271838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcggggagacggGggtccctgggttgagcagct	18	12	0	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:15271838G>A	ENST00000263388.2	-	33	6676	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					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)			GGGGAGACGGGGGTCCCTGGG	0.741																																						ENST00000263388.2																			0				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						c.(6601-6603)Ccc>Tcc		notch 3							3	5	4					19																	15271838		1902	3896	5798	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271838G>A	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.6601C>T	19.37:g.15271838G>A	ENSP00000263388:p.Pro2201Ser						p.P2201S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6676	-			2201					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6601C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	1.797	-0.478125	0.04414	.	.	ENSG00000074181	ENST00000263388	T	0.81078	-1.45	3.57	2.52	0.30459	.	.	.	.	.	T	0.59810	0.2221	N	0.08118	0	0.20638	N	0.99988	B	0.19331	0.035	B	0.14023	0.01	T	0.41233	-0.9520	9	0.13108	T	0.6	.	10.0185	0.42029	0.1043:0.0:0.8957:0.0	.	2201	Q9UM47	NOTC3_HUMAN	S	2201	ENSP00000263388:P2201S	ENSP00000263388:P2201S	P	-	1	0	NOTCH3	15132838	1.000000	0.71417	0.049000	0.19019	0.043000	0.13939	0.947000	0.29082	0.846000	0.35142	-0.218000	0.12543	CCC		0.741	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	6	0	0	0	1	0	7	6					A	15271838	G	A	15271838	3	1	316	1	0	0	0	0	1	0	0	0	10550	1232	43	2	368	2	NOTCH3	19	15271838	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	2051088	15271838	43857145	50	31967											
NWD1	284434	broad.mit.edu	37	chr19	16860910	16860910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgggtgctcctggaccCggaggcctactgggaggtga	18	11	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:16860910C>T	ENST00000552788.1	+	4	1457	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L|NWD1_ENST00000524140.2_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000523826.1_Missense_Mutation_p.P280L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	486	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						CTCCTGGACCCGGAGGCCTAC	0.647																																						ENST00000524140.2																			0				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						c.(1456-1458)cCg>cTg		NACHT and WD repeat domain containing 1							56	59	58					19																	16860910		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860910C>T	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.1457C>T	19.37:g.16860910C>T	ENSP00000447224:p.Pro486Leu					NWD1_ENST00000523826.1_Missense_Mutation_p.P280L|NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000552788.1_Missense_Mutation_p.P486L	p.P486L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1875	+			486			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1457C>T		.	.	.	.	.	.	.	.	.	.	c	5.657	0.305851	0.10733	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	4.45	0.913	0.19354	.	0.582761	0.16378	N	0.217010	T	0.70448	0.3225	L	0.40543	1.245	0.09310	N	1	D;D;B	0.59767	0.958;0.986;0.233	P;B;B	0.47102	0.537;0.423;0.035	T	0.59910	-0.7365	10	0.27785	T	0.31	-9.903	3.9953	0.09556	0.1673:0.5762:0.1624:0.0941	.	486;486;351	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	L	351;486;486;486;280;486;351	ENSP00000428579:P486L;ENSP00000447548:P486L;ENSP00000369136:P486L;ENSP00000428955:P280L;ENSP00000447224:P486L;ENSP00000340159:P351L	ENSP00000340159:P351L	P	+	2	0	NWD1	16721910	0.000000	0.05858	0.177000	0.23020	0.110000	0.19582	0.195000	0.17155	0.379000	0.24794	0.643000	0.83706	CCG		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	125	0	0	0	1	0	7	125					T	16860910	C	T	16860910	3	4	316	1	0	0	0	0	1	0	0	0	10781	652	23	1	1058	1	NWD1	19	16860910	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	1589072	16860910	42268073	51	31968											
PDE4C	5143	broad.mit.edu	37	chr19	18337211	18337211	+	Intron	DEL	G	G	-													ccggggaccggggcgggcgcGggggggccctgcatcgccag							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18337211delG	ENST00000355502.3	-	6	1114				PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000447275.3_5'Flank|PDE4C_ENST00000594617.3_Intron|PDE4C_ENST00000262805.12_Frame_Shift_Del_p.P5fs			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						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)	gggcgggcgcgggggggcccT	0.761																																						ENST00000262805.11																			0				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						c.(13-15)ccfs		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						1	2	2					19																	18337211		899	2192	3091	SO:0001627	intron_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18337211delG		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.243-4078C>-	19.37:g.18337211delG						PDE4C_ENST00000594465.2_Intron|PDE4C_ENST00000594617.2_Intron|PDE4C_ENST00000355502.3_Intron	p.P5fs	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN			1	74	-			0					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Del	DEL	ENST00000355502.3	37	c.15delC	CCDS12373.1																																																																																				0.761	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			2	4						2	4	---	---	---	---	-	18337211	G	-	18337211	6	5	316	0	1	1	0	1	0	0	0	0	11641	1103	39	0		0	PDE4C	19	18337211	Intron	DEL	G	TCGA-HT-A5R9-01A-11D-A289-08	1476301	18337211	40791772	52	31969											
CRTC1	23373	broad.mit.edu	37	chr19	18871031	18871031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggcatcggtggcgcCggccagggtaaggcagggac	18	12	0	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18871031C>T	ENST00000321949.8	+	8	905	c.879C>T	c.(877-879)gcC>gcT	p.A293A	CRTC1_ENST00000338797.6_Silent_p.A309A|CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000594658.1_Silent_p.A252A	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						TCGGTGGCGCCGGCCAGGGTA	0.667																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(925-927)gcC>gcT		CREB regulated transcription coactivator 1							23	25	24					19																	18871031		2183	4278	6461	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18871031C>T	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		ENST00000321949.8:c.879C>T	19.37:g.18871031C>T						CRTC1_ENST00000594658.1_Silent_p.A252A|CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000321949.8_Silent_p.A293A	p.A309A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			9	952	+			293			Ser-rich.			Silent	SNP	ENST00000321949.8	37	c.927C>T	CCDS32963.1																																																																																				0.667	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		9	17	0	0	0	1	0	9	17					T	18871031	C	T	18871031	2	4	316	1	0	0	0	0	0	0	0	1	3899	639	23	1		1	CRTC1	19	18871031	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	533820	18871031	40257952	53	31970											
UPF1	5976	broad.mit.edu	37	chr19	18968249	18968249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcatccggcccatcCgcctgcaggtccagtaccgg	13	16	0	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18968249C>T	ENST00000599848.1	+	15	2331	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	UPF1_ENST00000262803.5_Missense_Mutation_p.R697C			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGGCCCATCCGCCTGCAGGT	0.642																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2089-2091)Cgc>Tgc		UPF1 regulator of nonsense transcripts homolog (yeast)							36	37	37					19																	18968249		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968249C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2122C>T	19.37:g.18968249C>T	ENSP00000470142:p.Arg708Cys					UPF1_ENST00000599848.1_Missense_Mutation_p.R708C	p.R697C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			15	2361	+			708					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2089C>T		.	.	.	.	.	.	.	.	.	.	C	29.1	4.977382	0.92982	.	.	ENSG00000005007	ENST00000262803	D	0.92348	-3.02	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.951	D	0.97064	0.9773	10	0.87932	D	0	-41.6506	16.1478	0.81583	0.0:1.0:0.0:0.0	.	708;697	Q92900;Q92900-2	RENT1_HUMAN;.	C	697	ENSP00000262803:R697C	ENSP00000262803:R697C	R	+	1	0	UPF1	18829249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.430000	0.80321	2.159000	0.67721	0.561000	0.74099	CGC		0.642	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		43	54	0	0	0	1	0	43	54					T	18968249	C	T	18968249	3	4	316	1	0	0	0	0	1	0	0	0	17000	652	23	1	2147	1	UPF1	19	18968249	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	97218	18968249	40160734	54	31971											
CIC	23152	broad.mit.edu	37	chr19	42799067	42799069	+	In_Frame_Del	DEL	GAT	GAT	-													atccgtgaggtgcgccagaaGatcatgcaggctgccactcc							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:42799067_42799069delGAT	ENST00000575354.2	+	20	4591_4593	c.4551_4553delGAT	c.(4549-4554)aagatc>aac	p.1517_1518KI>N	CIC_ENST00000160740.3_In_Frame_Del_p.1515_1516KI>N|CIC_ENST00000572681.2_In_Frame_Del_p.2423_2424KI>N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1517					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)				TGCGCCAGAAGATCATGCAGGCT	0.65			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7267-7272)aac>aa		capicua transcriptional repressor																																				SO:0001651	inframe_deletion	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799067_42799069delGAT	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.4551_4553delGAT	19.37:g.42799067_42799069delGAT	ENSP00000458663:p.Lys1517_Ile1518delinsAsn					CIC_ENST00000160740.3_In_Frame_Del_p.KI1515del|CIC_ENST00000575354.2_In_Frame_Del_p.KI1517del	p.KI2423del			Q96RK0	CIC_HUMAN			21	7337_7339	+		Prostate(69;0.00682)	1517					Q7LGI1|Q9UEG5|Q9Y6T1	In_Frame_Del	DEL	ENST00000575354.2	37	c.7269_7271delGAT	CCDS12601.1																																																																																				0.65	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			44	36						44	36	---	---	---	---	-	42799069	GAT	-	42799067	7	5	316	1	0	1	0	1	0	0	0	0	3424	933	33	0	4629	0	CIC	19	42799067	In_Frame_Del	DEL	GAT	TCGA-HT-A5R9-01A-11D-A289-08	23830818	42799067	16329916	55	31972											
NLRP7	199713	broad.mit.edu	37	chr19	55451739	55451739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttggtttctcagagtgaCgtcgtcatggaaattgtcaa	11	8	3	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:55451739C>T	ENST00000590030.1	-	3	488	c.448G>A	c.(448-450)Gtc>Atc	p.V150I	NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000446217.1_Missense_Mutation_p.V178I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	150							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGAGTGACGTCGTCATGG	0.498																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(532-534)Gtc>Atc		NLR family, pyrin domain containing 7							243	259	253					19																	55451739		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451739C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.448G>A	19.37:g.55451739C>T	ENSP00000465520:p.Val150Ile					NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V150I	p.V178I			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	934	-			150			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.532G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.962287	0.00461	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.73363	-0.67;-0.67;-0.74;-0.71	1.86	-0.351	0.12602	.	0.639881	0.11944	N	0.514369	T	0.43299	0.1241	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.089;0.089;0.089;0.145	B;B;B;B	0.20384	0.013;0.013;0.013;0.029	T	0.28490	-1.0042	10	0.08381	T	0.77	.	2.8472	0.05547	0.0:0.4357:0.2467:0.3176	.	178;150;150;150	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	I	150;150;150;178	ENSP00000329568:V150I;ENSP00000409137:V150I;ENSP00000339491:V150I;ENSP00000414273:V178I	ENSP00000329568:V150I	V	-	1	0	NLRP7	60143551	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.224000	0.09164	-0.024000	0.13941	0.557000	0.71058	GTC		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		144	70	0	0	0	1	0	144	70					T	55451739	C	T	55451739	3	4	316	1	0	0	0	0	1	0	0	0	10482	536	19	1	2697	1	NLRP7	19	55451739	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12652672	55451739	3677244	56	31973											
TRPM2	7226	broad.mit.edu	37	chr21	45774548	45774548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagaaagcctcagttcGtggattcctgaaaacatcaa	8	10	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr21:45774548G>A	ENST00000397928.1	+	2	628	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_ENST00000300481.9_Silent_p.S61S|TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	61					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						GCCTCAGTTCGTGGATTCCTG	0.458																																						ENST00000397928.1																			0				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						c.(181-183)tcG>tcA		transient receptor potential cation channel, subfamily M, member 2							299	268	278					21																	45774548		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45774548G>A	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.183G>A	21.37:g.45774548G>A						TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300481.9_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S	p.S61S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			2	628	+			61					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.183G>A	CCDS13710.1																																																																																				0.458	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		11	94	0	0	0	1	0	11	94					A	45774548	G	A	45774548	2	1	316	1	0	0	0	0	0	0	0	1	16583	1132	40	1		1	TRPM2	21	45774548	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		45774548	2355347	57	31974											
MID1	4281	broad.mit.edu	37	chrX	10417629	10417629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggggggcaggctcaaTggggatttccttgctattgt	17	6	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:10417629T>C	ENST00000317552.4	-	10	2183	c.1783A>G	c.(1783-1785)Att>Gtt	p.I595V	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000380780.1_Missense_Mutation_p.I595V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	595	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCAGGCTCAATGGGGATTTCC	0.547																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1783-1785)Att>Gtt		midline 1 (Opitz/BBB syndrome)							93	72	79					X																	10417629		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417629T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1783A>G	X.37:g.10417629T>C	ENSP00000312678:p.Ile595Val					MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380780.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V	p.I595V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2183	-			595			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1783A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	4.992	0.184266	0.09495	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.060516	0.64402	D	0.000006	T	0.35128	0.0921	N	0.12887	0.27	0.50632	D	0.999884	B;B;B	0.14438	0.01;0.005;0.001	B;B;B	0.22880	0.042;0.03;0.009	T	0.20571	-1.0271	10	0.06494	T	0.89	.	10.8121	0.46553	0.0:0.0:0.1559:0.8441	.	595;595;545	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	V	595;595;595;595;595;595;545	ENSP00000414521:I595V;ENSP00000312678:I595V;ENSP00000370162:I595V;ENSP00000370156:I595V;ENSP00000370164:I595V;ENSP00000370157:I595V	ENSP00000312678:I595V	I	-	1	0	MID1	10377629	1.000000	0.71417	0.984000	0.44739	0.963000	0.63663	3.781000	0.55394	1.857000	0.53885	0.345000	0.21793	ATT		0.547	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			5	143	0	0	0	1	0	5	143					C	10417629	T	C	10417629	3	2	316	1	0	0	0	0	1	0	0	0	9576	1464	51	3	224	3	MID1	23	10417629	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		10417629	144852931	58	31975											
RBBP7	5931	broad.mit.edu	37	chrX	16887194	16887197	+	Splice_Site	DEL	CTTA	CTTA	-													aataaaagttgccagaaaccCttacttagtcacttcaggaa							TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:16887194_16887197delCTTA	ENST00000380087.2	-	2	522		c.e2+1		RBBP7_ENST00000404022.1_Splice_Site|RBBP7_ENST00000380084.4_Splice_Site			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7						cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCCAGAAACCCTTACTTAGTCACT	0.392																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.e2+1		retinoblastoma binding protein 7																																				SO:0001630	splice_region_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887194_16887197delCTTA	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.161+1TAAG>-	X.37:g.16887198_16887201delCTTA						RBBP7_ENST00000380084.4_Splice_Site|RBBP7_ENST00000404022.1_Splice_Site				Q16576	RBBP7_HUMAN			2	522	-	Hepatocellular(33;0.0997)							Q5JP00	Splice_Site	DEL	ENST00000380087.2	37		CCDS14179.1																																																																																				0.392	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	Intron	37	52						37	52	---	---	---	---	-	16887197	CTTA	-	16887194	8	5	316	1	0	1	0	1	0	0	1	0	13104	696	24	0		0	RBBP7	23	16887194	Splice_Site	DEL	CTTA	TCGA-HT-A5R9-01A-11D-A289-08	6469565	16887194	138383366	59	31976											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				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)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>T	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.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu					MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L	p.Q597L			Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	182	0	0	0	1	0	4	182					T	149639635	A	T	149639635	3	4	316	1	0	0	0	0	1	0	0	0	9208	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	132752441	149639635	5630925	60	31977											
PASD1	139135	broad.mit.edu	37	chrX	150793999	150793999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccttttgtgggagagcTcaggtgagaggtagtattga	16	4	1	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:150793999T>C	ENST00000370357.4	+	8	871	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	209						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)					GTGGGAGAGCTCAGGTGAGAG	0.333																																						ENST00000370357.4																			0				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						c.(625-627)cTc>cCc		PAS domain containing 1							173	171	172					X																	150793999		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150793999T>C	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.626T>C	X.37:g.150793999T>C	ENSP00000359382:p.Leu209Pro						p.L209P	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			8	871	+	Acute lymphoblastic leukemia(192;6.56e-05)		209					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.626T>C	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	9.241	1.038367	0.19669	.	.	ENSG00000166049	ENST00000370357	T	0.70045	-0.45	4.52	-9.05	0.00730	.	.	.	.	.	T	0.43964	0.1271	N	0.24115	0.695	0.23076	N	0.998339	P	0.49253	0.921	B	0.43701	0.428	T	0.52124	-0.8617	9	0.72032	D	0.01	-18.4634	2.5024	0.04637	0.4675:0.202:0.2301:0.1004	.	209	Q8IV76	PASD1_HUMAN	P	209	ENSP00000359382:L209P	ENSP00000359382:L209P	L	+	2	0	PASD1	150544655	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.057000	0.00625	-2.498000	0.00512	-1.444000	0.01066	CTC		0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		70	217	0	0	0	1	0	70	217					C	150793999	T	C	150793999	3	2	316	1	0	0	0	0	1	0	0	0	11471	1551	54	3	652	3	PASD1	23	150793999	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	1154364	150793999	4476561	61	31978											
PLEKHN1	84069	broad.mit.edu	37	chr1	906524	906524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgcggacggcgtcagGgcacgaacccggcggcagtg	18	14	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:906524G>A	ENST00000379409.2	+	6	830	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G227E			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	267										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCGTCAGGGCACGAACCC	0.692																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(799-801)gGg>gAg		pleckstrin homology domain containing, family N member 1							10	11	11					1																	906524		2177	4277	6454	SO:0001583	missense	84069							g.chr1:906524G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.800G>A	1.37:g.906524G>A	ENSP00000368719:p.Gly267Glu					PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G227E	p.G267E			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	6	830	+	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)	267					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.800G>A		.	.	.	.	.	.	.	.	.	.	G	12.69	2.014496	0.35511	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.43294	0.95;0.99;0.95	4.55	4.55	0.56014	.	0.147774	0.45126	D	0.000395	T	0.45597	0.1350	L	0.54323	1.7	0.35173	D	0.771757	D;P;P	0.57257	0.979;0.925;0.873	P;P;B	0.59487	0.858;0.691;0.439	T	0.52200	-0.8607	10	0.02654	T	1	.	8.4653	0.32953	0.1051:0.0:0.8949:0.0	.	227;267;215	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	E	215;227;267	ENSP00000368720:G215E;ENSP00000368717:G227E;ENSP00000368719:G267E	ENSP00000368717:G227E	G	+	2	0	PLEKHN1	896387	0.040000	0.19996	0.200000	0.23457	0.032000	0.12392	1.728000	0.38105	2.365000	0.80145	0.387000	0.25754	GGG		0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		11	10	0	0	0	1	0	11	10					A	906524	G	A	906524	3	1	317	1	0	0	0	0	1	0	0	0	12083	1232	43	2	706	2	PLEKHN1	1	906524	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		906524	248344097	1	31979											
CDK11B	8510	broad.mit.edu	37	chr1	1571791	1571791	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcatcttcttgactGctgggagctcgctgtagccg	13	10	3	2	rs201006058		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1571791G>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V|CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V|CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000407249.3_Missense_Mutation_p.A660V			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	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)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CTTCTTGACTGCTGGGAGCTC	0.572																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1978-1980)gCa>gTa		cyclin-dependent kinase 11B							100	72	81					1																	1571791		1969	4139	6108	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1571791G>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571791G>A						CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V|CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V	p.A660V			P21127	CD11B_HUMAN			19	1978	-			670			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1979C>T	CCDS30559.1																																																																																				0.572	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		5	42	0	0	0	1	0	5	42					A	1571791	G	A	1571791	1	1	317	0	1	0	0	0	0	0	0	0	3127	1319	46	2		2	CDK11B	1	1571791	IGR	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	665267	1571791	247678830	2	31980											
HSPB7	27129	broad.mit.edu	37	chr1	16343699	16343699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcctgccccaccggggCgggctgtgggatgggctgct	18	12	0	0	rs143274675		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:16343699C>T	ENST00000311890.9	-	2	1029	c.203G>A	c.(202-204)cGc>cAc	p.R68H	HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	68	Required for localization to SC35 splicing speckles.				regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCGGGGCGGGCTGTGGG	0.627																																						ENST00000311890.9																			0				breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10						c.(202-204)cGc>cAc		heat shock 27kDa protein family, member 7 (cardiovascular)							107	111	110					1																	16343699		2203	4300	6503	SO:0001583	missense	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16343699C>T	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.203G>A	1.37:g.16343699C>T	ENSP00000310111:p.Arg68His					HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H	p.R68H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	2	1029	-		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)	68			Required for localization to SC35 splicing speckles.		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	ENST00000311890.9	37	c.203G>A	CCDS30611.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510719	0.27036	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.95447	-3.02;-3.04;-3.02;-3.56;-3.71;-3.04	5.23	5.23	0.72850	HSP20-like chaperone (1);	0.096519	0.44483	D	0.000444	D	0.90858	0.7128	L	0.29908	0.895	0.80722	D	1	P;D;B;B	0.60575	0.513;0.988;0.006;0.291	B;B;B;B	0.42386	0.02;0.386;0.003;0.015	D	0.88999	0.3420	10	0.18710	T	0.47	-9.48	13.1722	0.59604	0.0:0.8395:0.1604:0.0	.	143;94;156;68	Q8N241;Q7Z3C1;Q5T5Q2;Q9UBY9	.;.;.;HSPB7_HUMAN	H	68;68;143;161;27;73;72	ENSP00000391578:R68H;ENSP00000310111:R68H;ENSP00000364870:R143H;ENSP00000417966:R27H;ENSP00000419477:R73H;ENSP00000385472:R72H	ENSP00000310111:R68H	R	-	2	0	HSPB7	16216286	0.990000	0.36364	0.934000	0.37439	0.028000	0.11728	2.905000	0.48727	2.441000	0.82636	0.313000	0.20887	CGC		0.627	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		77	115	0	0	0	1	0	77	115					T	16343699	C	T	16343699	3	4	317	1	0	0	0	0	1	0	0	0	7422	768	27	1	317	1	HSPB7	1	16343699	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14771908	16343699	232906922	3	31981											
HSPG2	3339	broad.mit.edu	37	chr1	22176934	22176934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccaacactcggcacaCgtactcgcccgagtcggcgg	12	17	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:22176934C>T	ENST00000374695.3	-	56	7295	c.7216G>A	c.(7216-7218)Gtg>Atg	p.V2406M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2406	Ig-like C2-type 9.				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)	ACTCGGCACACGTACTCGCCC	0.657																																						ENST00000374695.3																			0				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						c.(7216-7218)Gtg>Atg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						29	28	28					1																	22176934		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176934C>T	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.7216G>A	1.37:g.22176934C>T	ENSP00000363827:p.Val2406Met					HSPG2_ENST00000430507.1_3'UTR	p.V2406M	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	56	7295	-		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)	2406			Ig-like C2-type 9.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7216G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697988	0.30142	.	.	ENSG00000142798	ENST00000374695	T	0.16073	2.37	5.45	1.56	0.23342	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003638	T	0.33323	0.0859	M	0.67569	2.06	0.30293	N	0.790238	P;D	0.89917	0.766;1.0	B;D	0.91635	0.227;0.999	T	0.14952	-1.0454	10	0.42905	T	0.14	.	7.7551	0.28919	0.0:0.5805:0.0:0.4195	.	346;2406	Q59EG0;P98160	.;PGBM_HUMAN	M	2406	ENSP00000363827:V2406M	ENSP00000363827:V2406M	V	-	1	0	HSPG2	22049521	0.056000	0.20664	0.399000	0.26333	0.042000	0.13812	0.203000	0.17315	0.043000	0.15746	-0.254000	0.11334	GTG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		10	18	0	0	0	1	0	10	18					T	22176934	C	T	22176934	3	4	317	1	0	0	0	0	1	0	0	0	7430	536	19	1	6127	1	HSPG2	1	22176934	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	5833235	22176934	227073687	4	31982											
PTPRU	10076	broad.mit.edu	37	chr1	29611340	29611340	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggggggcttgctgtcctCatccttctcctgggtgccat	13	13	2	0	rs544754887		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:29611340C>T	ENST00000345512.3	+	14	2406	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	PTPRU_ENST00000373779.3_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.L759L|PTPRU_ENST00000428026.2_Silent_p.L759L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	759					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)		TTGCTGTCCTCATCCTTCTCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19922	0.0		0.0	False		,,,				2504	0.001					ENST00000373779.3																			0				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						c.(2275-2277)ctC>ctT		protein tyrosine phosphatase, receptor type, U							95	82	87					1																	29611340		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29611340C>T	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.2277C>T	1.37:g.29611340C>T						PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.L759L|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000428026.2_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000323874.8_Silent_p.L759L	p.L759L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		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)	14	2406	+		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)	759					A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2277C>T	CCDS334.1																																																																																				0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			37	62	0	0	0	1	0	37	62					T	29611340	C	T	29611340	2	4	317	1	0	0	0	0	0	0	0	1	12813	813	29	2		2	PTPRU	1	29611340	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	7434406	29611340	219639281	5	31983											
MKNK1	8569	broad.mit.edu	37	chr1	47024299	47024299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcctgcctgggccaggGcccgtctccgggccaggcgt	16	17	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:47024299G>A	ENST00000371946.4	-	14	1509	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	449					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTGGGCCAGGGCCCGTCTCCG	0.622																																						ENST00000371946.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(1345-1347)gCc>gTc		MAP kinase interacting serine/threonine kinase 1							36	41	39					1																	47024299		2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024299G>A	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1346C>T	1.37:g.47024299G>A	ENSP00000361014:p.Ala449Val					MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V	p.A449V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN			14	1509	-	Acute lymphoblastic leukemia(166;0.155)		449					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.1346C>T	CCDS538.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705011	0.88924	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944	T;T;T	0.70631	-0.11;-0.5;0.17	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82559	0.5063	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.985;0.994;0.985	T	0.80460	-0.1373	10	0.30854	T	0.27	.	17.3379	0.87287	0.0:0.0:1.0:0.0	.	313;408;449	Q7Z319;Q9BUB5-2;Q9BUB5	.;.;MKNK1_HUMAN	V	449;408;313	ENSP00000361014:A449V;ENSP00000361013:A408V;ENSP00000361012:A313V	ENSP00000361012:A313V	A	-	2	0	MKNK1	46796886	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.263000	0.95617	2.556000	0.86216	0.561000	0.74099	GCC		0.622	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		20	38	0	0	0	1	0	20	38					A	47024299	G	A	47024299	3	1	317	1	0	0	0	0	1	0	0	0	9604	1203	42	2	55	2	MKNK1	1	47024299	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	17412959	47024299	202226322	6	31984											
C8B	732	broad.mit.edu	37	chr1	57411659	57411659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgaaggaactcgtaatGgagcatgaggcttctgggtt	13	7	2	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:57411659G>A	ENST00000371237.4	-	7	1006	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000543257.1_Missense_Mutation_p.H262Y	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	314	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						AACTCGTAATGGAGCATGAGG	0.468																																						ENST00000543257.1																			0				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						c.(784-786)Cat>Tat		complement component 8, beta polypeptide							95	90	92					1																	57411659		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411659G>A	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.940C>T	1.37:g.57411659G>A	ENSP00000360281:p.His314Tyr					C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000371237.4_Missense_Mutation_p.H314Y	p.H262Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			8	1350	-			314			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.784C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183639	0.78677	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.84516	-1.86;-1.86;-1.86	4.83	2.87	0.33458	Membrane attack complex component/perforin (MACPF) domain (3);	0.047565	0.85682	D	0.000000	D	0.91476	0.7309	M	0.83483	2.645	0.58432	D	0.999999	D;D;D	0.89917	0.993;0.993;1.0	P;P;D	0.79784	0.835;0.835;0.993	D	0.91735	0.5399	10	0.62326	D	0.03	-21.0276	12.3856	0.55330	0.0:0.1265:0.7432:0.1302	.	262;252;314	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Y	314;262;252	ENSP00000360281:H314Y;ENSP00000442548:H262Y;ENSP00000440113:H252Y	ENSP00000360281:H314Y	H	-	1	0	C8B	57184247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.133000	0.64764	2.504000	0.84457	0.655000	0.94253	CAT		0.468	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			32	38	0	0	0	1	0	32	38					A	57411659	G	A	57411659	3	1	317	1	0	0	0	0	1	0	0	0	2417	1348	47	2	859	2	C8B	1	57411659	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	10387360	57411659	191838962	7	31985											
CELSR2	1952	broad.mit.edu	37	chr1	109805496	109805496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccgagagcttcccagtccGaatgcggcagttcgtgggct	14	13	0	1	rs148197539	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:109805496G>A	ENST00000271332.3	+	7	4674	c.4613G>A	c.(4612-4614)cGa>cAa	p.R1538Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1538	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TTCCCAGTCCGAATGCGGCAG	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(4612-4614)cGa>cAa		cadherin, EGF LAG seven-pass G-type receptor 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	56	57	57		4613	3.8	0.7	1	dbSNP_134	57	0,8600		0,0,4300	no	missense	CELSR2	NM_001408.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1538/2924	109805496	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805496G>A	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.4613G>A	1.37:g.109805496G>A	ENSP00000271332:p.Arg1538Gln						p.R1538Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	7	4674	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1538			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4613G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094081	0.36952	2.27E-4	0.0	ENSG00000143126	ENST00000271332	T	0.78364	-1.17	4.74	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.35307	0.0927	N	0.15975	0.35	0.41683	D	0.989306	B	0.33777	0.425	B	0.27796	0.083	T	0.31138	-0.9954	9	0.12430	T	0.62	.	7.1081	0.25374	0.1545:0.1415:0.704:0.0	.	1538	Q9HCU4	CELR2_HUMAN	Q	1538	ENSP00000271332:R1538Q	ENSP00000271332:R1538Q	R	+	2	0	CELSR2	109607019	0.001000	0.12720	0.711000	0.30485	0.917000	0.54804	0.803000	0.27083	1.358000	0.45922	0.561000	0.74099	CGA		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	149	0	0	0	1	0	4	149					A	109805496	G	A	109805496	3	1	317	1	0	0	0	0	1	0	0	0	3222	1058	37	1	4639	1	CELSR2	1	109805496	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	52393837	109805496	139445125	8	31986											
SNAPIN	23557	broad.mit.edu	37	chr1	153632019	153632021	+	In_Frame_Del	DEL	AAC	AAC	-													ggcgacgcgttgtcttggttAacaacattctacagaatgct							TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:153632019_153632021delAAC	ENST00000368685.5	+	3	376_378	c.286_288delAAC	c.(286-288)aacdel	p.N97del	SNAPIN_ENST00000478558.1_3'UTR|ILF2_ENST00000480213.1_5'Flank	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	97	Interaction with TOR1A.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCTTGGTTAACAACATTCTAC	0.433																																						ENST00000368685.5																			0				lung(3)	3						c.(286-288)del		SNAP-associated protein																																				SO:0001651	inframe_deletion	23557				intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	g.chr1:153632019_153632021delAAC	AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.286_288delAAC	1.37:g.153632022_153632024delAAC	ENSP00000357674:p.Asn97del					SNAPIN_ENST00000478558.1_3'UTR	p.N97del	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	376_378	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		97					D3DV56|Q5SXU8	In_Frame_Del	DEL	ENST00000368685.5	37	c.286_288delAAC	CCDS1049.1																																																																																				0.433	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		47	72						47	72	---	---	---	---	-	153632021	AAC	-	153632019	7	5	317	1	0	1	0	1	0	0	0	0	14839	362	13	0	296	0	SNAPIN	1	153632019	In_Frame_Del	DEL	AAC	TCGA-HT-A5RA-01A-11D-A289-08	43826523	153632019	95618602	9	31987											
PFKFB2	5208	broad.mit.edu	37	chr1	207252343	207252343	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagacgcccctccgcagcGtccctcatgttgccttgcta	9	18	1	1	rs144692490		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:207252343G>A	ENST00000367080.3	+	0	7094				PFKFB2_ENST00000367079.2_Silent_p.A465A|PFKFB2_ENST00000411990.2_Silent_p.A367A|PFKFB2_ENST00000541914.1_Silent_p.A258A|PFKFB2_ENST00000473310.1_3'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CCTCCGCAGCGTCCCTCATGT	0.552																																						ENST00000367079.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1393-1395)gcG>gcA		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2		G		1,4405	2.1+/-5.4	0,1,2202	154	142	146		1395	-10	0	1	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous	PFKFB2	NM_001018053.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		465/472	207252343	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207252343G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033		1.37:g.207252343G>A						PFKFB2_ENST00000541914.1_Silent_p.A258A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000411990.2_Silent_p.A367A	p.A465A	NM_001018053.1	NP_001018063.1	O60825	F262_HUMAN			15	1468	+	Prostate(682;0.19)		0			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	c.1395G>A	CCDS31004.1																																																																																				0.552	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			75	94	0	0	0	1	0	75	94					A	207252343	G	A	207252343	1	1	317	0	1	0	0	0	0	0	0	0	11761	1132	40	1		1	PFKFB2	1	207252343	IGR	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	53620324	207252343	41998278	10	31988											
SLC35F3	148641	broad.mit.edu	37	chr1	234367298	234367298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatcttctggggcgtggCggtcgtgctgtgcgtgtgct	18	8	2	1	rs141749628		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:234367298C>T	ENST00000366617.3	+	2	440	c.212C>T	c.(211-213)gCg>gTg	p.A71V	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A140V			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	71					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGGGCGTGGCGGTCGTGCTG	0.697																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(418-420)gCg>gTg		solute carrier family 35, member F3							105	92	97					1																	234367298		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234367298C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.212C>T	1.37:g.234367298C>T	ENSP00000355576:p.Ala71Val					SLC35F3_ENST00000366617.3_Missense_Mutation_p.A71V	p.A140V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	564	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	71					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.419C>T		.	.	.	.	.	.	.	.	.	.	C	7.624	0.677403	0.14841	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.41758	0.99;1.0	4.57	3.65	0.41850	.	0.159125	0.56097	D	0.000034	T	0.27765	0.0683	L	0.41236	1.265	0.43647	D	0.996052	B;B	0.30455	0.028;0.28	B;B	0.23018	0.008;0.043	T	0.04650	-1.0936	10	0.12103	T	0.63	-9.9982	9.8147	0.40844	0.0:0.833:0.0:0.167	.	71;140	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	V	140;71	ENSP00000355577:A140V;ENSP00000355576:A71V	ENSP00000355576:A71V	A	+	2	0	SLC35F3	232433921	0.961000	0.32948	0.998000	0.56505	0.988000	0.76386	2.183000	0.42565	1.119000	0.41883	0.491000	0.48974	GCG		0.697	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		4	165	0	0	0	1	0	4	165					T	234367298	C	T	234367298	3	4	317	1	0	0	0	0	1	0	0	0	14590	768	27	1	429	1	SLC35F3	1	234367298	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	27114955	234367298	14883323	11	31989											
LTBP1	4052	broad.mit.edu	37	chr2	33525560	33525560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctatgtgtaaacgggcAgtgcaaaaataccgagggct	12	7	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:33525560A>G	ENST00000404816.2	+	21	3631	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1093	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAAACGGGCAGTGCAAAAAT	0.473																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(3277-3279)cAg>cGg		latent transforming growth factor beta binding protein 1							107	108	107					2																	33525560		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33525560A>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3278A>G	2.37:g.33525560A>G	ENSP00000386043:p.Gln1093Arg					LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R	p.Q1093R			Q14766	LTBP1_HUMAN			21	3631	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1093			EGF-like 9; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3278A>G	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.822|7.822	0.717994|0.717994	0.15372|0.15372	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273|ENST00000415140	D;D;D;D;D;D;D;D|.	0.91945|.	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.24|.	5.39|5.39	5.39|5.39	0.77823|0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.02973|0.02973	-0.45|-0.45	0.30989|0.30989	N|N	0.721596|0.721596	B;B;B;B;B;B;B|.	0.12013|.	0.0;0.005;0.003;0.001;0.002;0.002;0.004|.	B;B;B;B;B;B;B|.	0.16289|.	0.001;0.015;0.015;0.005;0.006;0.009;0.009|.	T|T	0.18903|0.18903	-1.0322|-1.0322	9|5	0.17832|.	T|.	0.49|.	.|.	9.773|9.773	0.40601|0.40601	0.8461:0.0:0.0:0.1539|0.8461:0.0:0.0:0.1539	.|.	33;1093;767;714;767;768;1094|.	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;LTBP1_HUMAN;.;.;.;.;.|.	R|G	1093;1094;768;767;714;714;767;33|55	ENSP00000386043:Q1093R;ENSP00000346467:Q1094R;ENSP00000374653:Q768R;ENSP00000393057:Q767R;ENSP00000384373:Q714R;ENSP00000385359:Q714R;ENSP00000384091:Q767R;ENSP00000272273:Q33R|.	ENSP00000272273:Q33R|.	Q|S	+|+	2|1	0|0	LTBP1|LTBP1	33379064|33379064	0.997000|0.997000	0.39634|0.39634	0.968000|0.968000	0.41197|0.41197	0.351000|0.351000	0.29236|0.29236	2.276000|2.276000	0.43408|0.43408	2.049000|2.049000	0.60858|0.60858	0.454000|0.454000	0.30748|0.30748	CAG|AGT		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		55	62	0	0	0	1	0	55	62					G	33525560	A	G	33525560	3	3	317	1	0	0	0	0	1	0	0	0	9073	188	7	3	3415	3	LTBP1	2	33525560	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		33525560	209673813	12	31990											
MOGS	7841	broad.mit.edu	37	chr2	74689679	74689679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttccaccccgatgtctgGcaataccagcccttgtccgt	7	18	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:74689679G>A	ENST00000233616.4	-	4	1399	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.P307S|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	413					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						CCGATGTCTGGCAATACCAGC	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1237-1239)Cca>Tca		mannosyl-oligosaccharide glucosidase							96	106	103					2																	74689679		1962	4136	6098	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689679G>A	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.1237C>T	2.37:g.74689679G>A	ENSP00000233616:p.Pro413Ser					MOGS_ENST00000452063.2_Missense_Mutation_p.P307S|MOGS_ENST00000409065.1_3'UTR	p.P413S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1399	-			413					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1237C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621164	0.28889	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.40476	1.03;1.03;1.03	4.92	4.04	0.47022	.	0.138229	0.51477	D	0.000099	T	0.14960	0.0361	N	0.00980	-1.08	0.80722	D	1	B	0.12630	0.006	B	0.17979	0.02	T	0.09796	-1.0658	10	0.09338	T	0.73	-5.0755	12.888	0.58055	0.0:0.1764:0.8236:0.0	.	413	Q13724	MOGS_HUMAN	S	413;307;307	ENSP00000233616:P413S;ENSP00000388201:P307S;ENSP00000410992:P307S	ENSP00000233616:P413S	P	-	1	0	MOGS	74543187	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.872000	0.39549	1.286000	0.44565	0.655000	0.94253	CCA		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		5	240	0	0	0	1	0	5	240					A	74689679	G	A	74689679	3	1	317	1	0	0	0	0	1	0	0	0	9697	1203	42	2	1280	2	MOGS	2	74689679	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	41164119	74689679	168509694	13	31991											
SLC16A14	151473	broad.mit.edu	37	chr2	230923895	230923895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcttccagccattccacGttgaggacacccagggccat	8	14	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:230923895G>A	ENST00000295190.4	-	2	632	c.174C>T	c.(172-174)aaC>aaT	p.N58N	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	58						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)		GCCATTCCACGTTGAGGACAC	0.562																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(172-174)aaC>aaT		solute carrier family 16, member 14							84	80	81					2																	230923895		2203	4300	6503	SO:0001819	synonymous_variant	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230923895G>A	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.174C>T	2.37:g.230923895G>A							p.N58N	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	2	632	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	58					A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	c.174C>T	CCDS2473.1																																																																																				0.562	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		52	49	0	0	0	1	0	52	49					A	230923895	G	A	230923895	2	1	317	1	0	0	0	0	0	0	0	1	14407	1136	40	1		1	SLC16A14	2	230923895	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	156234216	230923895	12275478	14	31992											
C3orf24	115795	broad.mit.edu	37	chr3	10146353	10146353	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgggaagcagggggAggccttgaatgggtgcttgg	21	4	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:10146353A>G	ENST00000450660.2	-	2	322	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S36P	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	36																	AAGCAGGGGGAGGCCTTGAAT	0.562																																						ENST00000450660.2																			0											c.(106-108)Tcc>Ccc		FANCD2 opposite strand							209	213	212					3																	10146353		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10146353A>G	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 24"	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.106T>C	3.37:g.10146353A>G	ENSP00000429608:p.Ser36Pro					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.S36P	p.S36P	NM_001164839.1	NP_001158311.1					2	322	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.106T>C	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823793	0.50739	.	.	ENSG00000163705	ENST00000524279;ENST00000453223;ENST00000450660	.	.	.	5.62	4.48	0.54585	.	0.440490	0.22242	N	0.062677	T	0.12135	0.0295	N	0.14661	0.345	0.27654	N	0.947309	P	0.46706	0.883	B	0.32724	0.151	T	0.08371	-1.0725	9	0.29301	T	0.29	.	5.3432	0.15994	0.7322:0.1796:0.0882:0.0	.	36	Q96PS1	CC024_HUMAN	P	36;34;36	.	ENSP00000429608:S36P	S	-	1	0	C3orf24	10121353	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.791000	0.38744	2.160000	0.67779	0.456000	0.33151	TCC		0.562	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		4	169	0	0	0	1	0	4	169					G	10146353	A	G	10146353	3	3	317	1	0	0	0	0	1	0	0	0	2217	304	11	3	431	3	C3orf24	3	10146353	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		10146353	187876077	15	31993											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	15	13	2	2	rs200900272		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.P349L|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	27	0	0	0	1	0	3	27					A	49723596	G	A	49723596	1	1	317	0	1	0	0	0	0	0	0	0	9890	1232	43	2		2	MST1	3	49723596	IGR	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	39577243	49723596	148298834	16	31994											
CD200R1L	344807	broad.mit.edu	37	chr3	112546321	112546321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggacgaatctgaaggtccGaattctgatcaggtctagag	12	9	4	3	rs369844409		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:112546321G>A	ENST00000398214.1	-	3	548	c.323C>T	c.(322-324)tCg>tTg	p.S108L	CD200R1L_ENST00000488794.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	108	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGAAGGTCCGAATTCTGATC	0.463																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(259-261)tCg>tTg		CD200 receptor 1-like		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	159	153	155		323,260	-2.9	0	3		155	0,8600		0,0,4300	no	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	108/272,87/251	112546321	1,13005	2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546321G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.323C>T	3.37:g.112546321G>A	ENSP00000381272:p.Ser108Leu					CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S108L	p.S87L			Q6Q8B3	MO2R2_HUMAN			5	849	-			108			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.260C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	4.221	0.039779	0.08148	2.27E-4	0.0	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.28069	1.63;1.63;1.63	3.99	-2.94	0.05581	Immunoglobulin-like fold (1);	0.832713	0.10990	N	0.611692	T	0.12263	0.0298	N	0.22421	0.69	0.09310	N	1	P	0.35226	0.491	B	0.25405	0.06	T	0.27806	-1.0063	10	0.15952	T	0.53	.	4.5148	0.11930	0.5625:0.0:0.2692:0.1683	.	108	Q6Q8B3	MO2R2_HUMAN	L	108;87;87	ENSP00000381272:S108L;ENSP00000418413:S87L;ENSP00000415132:S87L	ENSP00000381272:S108L	S	-	2	0	CD200R1L	114029011	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.039000	0.13884	-0.404000	0.07610	-0.136000	0.14681	TCG		0.463	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		47	65	0	0	0	1	0	47	65					A	112546321	G	A	112546321	3	1	317	1	0	0	0	0	1	0	0	0	2982	1059	37	1	508	1	CD200R1L	3	112546321	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	62822725	112546321	85476109	17	31995											
MUC4	4585	broad.mit.edu	37	chr3	195488980	195488980	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggagcccctccgtgcggttCtggtactcgggcgggaggct	17	12	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:195488980C>T	ENST00000346145.4	-	13	1821	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000463781.3_Silent_p.Q4830Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1587					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)		CCGTGCGGTTCTGGTACTCGG	0.736																																						ENST00000463781.3																			0				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						c.(14488-14490)caG>caA		mucin 4, cell surface associated							19	19	19					3																	195488980		2199	4294	6493	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195488980C>T	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.1782G>A	3.37:g.195488980C>T						MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q|MUC4_ENST00000346145.4_Silent_p.Q594Q	p.Q4830Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	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)	14	14949	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1587					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.14490G>A	CCDS3310.1																																																																																				0.736	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		10	25	0	0	0	1	0	10	25					T	195488980	C	T	195488980	2	4	317	1	0	0	0	0	0	0	0	1	9978	912	32	2		2	MUC4	3	195488980	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	82942659	195488980	2533450	18	31996											
EXOC1	55763	broad.mit.edu	37	chr4	56734654	56734654	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgaatgcggaagcctttgcaGaaaaattgtccagagagctg	12	8	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:56734654G>T	ENST00000381295.2	+	5	916	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	190					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCCTTTGCAGAAAAATTGTC	0.393																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(568-570)Gaa>Taa		exocyst complex component 1							101	100	100					4																	56734654		2203	4300	6503	SO:0001587	stop_gained	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56734654G>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.568G>T	4.37:g.56734654G>T	ENSP00000370695:p.Glu190*					EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190*	p.E190*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			5	916	+	Glioma(25;0.08)|all_neural(26;0.101)		190					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Nonsense_Mutation	SNP	ENST00000381295.2	37	c.568G>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	39	7.900149	0.98551	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.2371	0.98361	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000326514:E190X	E	+	1	0	EXOC1	56429411	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.363000	0.97131	2.788000	0.95919	0.555000	0.69702	GAA		0.393	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	31	1	0	2.41591e-17	1	2.53434e-17	25	31					T	56734654	G	T	56734654	4	4	317	1	0	0	0	0	0	1	0	0	5301	943	33	4	582	4	EXOC1	4	56734654	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56734654	134419622	19	31997											
DCHS2	54798	broad.mit.edu	37	chr4	155176790	155176790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaatactcaatcaggccGttcaaaccactgtccaagtc	6	12	3	1	rs200803727	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1819	Cadherin 16. {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)		CAATCAGGCCGTTCAAACCAC	0.408													G|||	16	0.00319489	0.0	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0164					ENST00000357232.3																			0				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						c.(5455-5457)aaC>aaT		dachsous cadherin-related 2							108	99	102					4																	155176790		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176790G>A	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.5457C>T	4.37:g.155176790G>A							p.N1819N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5456	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1819			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5457C>T	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		22	18	0	0	0	1	0	22	18					A	155176790	G	A	155176790	2	1	317	1	0	0	0	0	0	0	0	1	4288	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	98442136	155176790	35977486	20	31998											
NPY5R	4889	broad.mit.edu	37	chr4	164271443	164271443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatggatttagagctcgaCgagtattataacaagacact	8	6	0	2	rs371917653		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:164271443C>T	ENST00000515560.1	+	4	1540	c.18C>T	c.(16-18)gaC>gaT	p.D6D	NPY5R_ENST00000338566.3_Silent_p.D6D|NPY5R_ENST00000506953.1_Silent_p.D6D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	6					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)				TAGAGCTCGACGAGTATTATA	0.358																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(16-18)gaC>gaT		neuropeptide Y receptor Y5		C		0,4406		0,0,2203	58	60	59		18	2.3	0.1	4		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPY5R	NM_006174.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		6/446	164271443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271443C>T	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.18C>T	4.37:g.164271443C>T						NPY5R_ENST00000506953.1_Silent_p.D6D|NPY5R_ENST00000338566.3_Silent_p.D6D	p.D6D			Q15761	NPY5R_HUMAN			4	1540	+	all_hematologic(180;0.166)	Prostate(90;0.109)	6					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.18C>T	CCDS3804.1																																																																																				0.358	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		23	36	0	0	0	1	0	23	36					T	164271443	C	T	164271443	2	4	317	1	0	0	0	0	0	0	0	1	10610	535	19	1		1	NPY5R	4	164271443	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	9094653	164271443	26882833	21	31999											
FAM81B	153643	broad.mit.edu	37	chr5	94749822	94749822	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcgaaaagaggaatcgctCgccaggaagttactggaaag	12	7	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr5:94749822C>T	ENST00000283357.5	+	4	511	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	155						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)		AGGAATCGCTCGCCAGGAAGT	0.463																																						ENST00000283357.5																			0				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						c.(463-465)ctC>ctT		family with sequence similarity 81, member B							95	96	96					5																	94749822		1981	4167	6148	SO:0001819	synonymous_variant	153643							g.chr5:94749822C>T		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.465C>T	5.37:g.94749822C>T							p.L155L	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	511	+		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)	155						Silent	SNP	ENST00000283357.5	37	c.465C>T	CCDS43341.1																																																																																				0.463	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		39	46	0	0	0	1	0	39	46					T	94749822	C	T	94749822	2	4	317	1	0	0	0	0	0	0	0	1	5629	871	31	1		1	FAM81B	5	94749822	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		94749822	86165438	22	32000											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	189						8	189	---	---	---	---	A	31939830	-	A	31939829	7	5	317	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RA-01A-11D-A289-08		31939829	139175238	23	32001											
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcagcacccccGccccctctgccgcccccaca	5	27	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2551-2553)ccG>ccC		tubby like protein 4							5	6	6					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2553G>C	6.37:g.158923248G>C						TULP4_ENST00000367094.2_Intron	p.P851P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		6	17	0	0	0	1	0	6	17					C	158923248	G	C	158923248	2	2	317	1	0	0	0	0	0	0	0	1	16773	1074	38	4		4	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	126983419	158923248	12191819	24	32002											
AMZ1	155185	broad.mit.edu	37	chr7	2740188	2740188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcagctgtatgtgtccGccttctcccctgccgagcgg	12	15	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:2740188G>A	ENST00000312371.4	+	2	471	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	AMZ1_ENST00000407112.1_Missense_Mutation_p.A35T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	35							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)		GTATGTGTCCGCCTTCTCCCC	0.657																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(103-105)Gcc>Acc		archaelysin family metallopeptidase 1							112	120	118					7																	2740188		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740188G>A	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.103G>A	7.37:g.2740188G>A	ENSP00000308149:p.Ala35Thr					AMZ1_ENST00000407112.1_Missense_Mutation_p.A35T	p.A35T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	471	+		Ovarian(82;0.0779)	35					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.103G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	8.023	0.760127	0.15846	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.32988	1.85;1.43	4.34	-0.797	0.10909	.	0.333921	0.25717	N	0.028767	T	0.22399	0.0540	M	0.68317	2.08	0.22754	N	0.998774	P;B	0.35527	0.507;0.173	B;B	0.25614	0.062;0.013	T	0.16808	-1.0390	10	0.25106	T	0.35	-7.0034	8.4433	0.32828	0.4048:0.0:0.5952:0.0	.	35;35	B3KRS0;Q400G9	.;AMZ1_HUMAN	T	35	ENSP00000308149:A35T;ENSP00000386020:A35T	ENSP00000308149:A35T	A	+	1	0	AMZ1	2706714	0.000000	0.05858	0.013000	0.15412	0.079000	0.17450	-0.270000	0.08584	-0.590000	0.05866	-1.101000	0.02118	GCC		0.657	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		5	383	0	0	0	1	0	5	383					A	2740188	G	A	2740188	3	1	317	1	0	0	0	0	1	0	0	0	596	1087	38	1	105	1	AMZ1	7	2740188	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		2740188	156398475	25	32003											
SEPT7	989	broad.mit.edu	37	chr7	35872445	35872445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctatgtgggatttgccaAtctcccaaatcaagtataca	8	9	2	0	rs11538083		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:35872445A>G	ENST00000399034.2	+	3	300	c.107A>G	c.(106-108)aAt>aGt	p.N36S	SEPT7_ENST00000494488.2_Missense_Mutation_p.N21S|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S			Q16181	SEPT7_HUMAN	septin 7	35					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGATTTGCCAATCTCCCAAAT	0.373																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(61-63)aAt>aGt		septin 7							165	158	160					7																	35872445		1835	4087	5922	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35872445A>G	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000399034.2:c.107A>G	7.37:g.35872445A>G	ENSP00000381992:p.Asn36Ser					SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000399034.2_Missense_Mutation_p.N36S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S	p.N21S			Q16181	SEPT7_HUMAN			2	62	+			35					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000399034.2	37	c.62A>G		.	.	.	.	.	.	.	.	.	.	A	15.73	2.919909	0.52653	.	.	ENSG00000122545	ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000494488	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.58	5.58	0.84498	.	0.125187	0.52532	U	0.000071	T	0.25382	0.0617	L	0.35723	1.085	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.23018	0.043;0.043	T	0.06881	-1.0802	10	0.13108	T	0.6	.	14.7386	0.69437	1.0:0.0:0.0:0.0	.	34;35	E7EPK1;Q16181	.;SEPT7_HUMAN	S	36;34;34;34;21	ENSP00000381992:N36S;ENSP00000344868:N34S;ENSP00000444501:N34S;ENSP00000381993:N34S;ENSP00000438395:N21S	ENSP00000344868:N34S	N	+	2	0	SEPT7	35838970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	2.131000	0.65755	0.533000	0.62120	AAT		0.373	SEPT7-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001788		64	87	0	0	0	1	0	64	87					G	35872445	A	G	35872445	3	3	317	1	0	0	0	0	1	0	0	0	14069	101	4	3	108	3	SEPT7	7	35872445	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	33132257	35872445	123266218	26	32004											
ZAN	7455	broad.mit.edu	37	chr7	100377162	100377162	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgacctccgcagggcgCgggaaaagtgcgaggcagcg	18	13	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:100377162C>T	ENST00000348028.3	+	0	6576				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)			CCGCAGGGCGCGGGAAAAGTG	0.642																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							28	32	31					7																	100377162		1983	4140	6123			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377162C>T	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.100377162C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6557	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	12.97	2.096000	0.36952	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.77229	-1.08;-1.08;-1.08;1.87	4.17	1.31	0.21738	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.630111	0.13206	N	0.405556	T	0.63498	0.2516	.	.	.	0.09310	N	1	B;B;B	0.15930	0.012;0.012;0.015	B;B;B	0.11329	0.003;0.003;0.006	T	0.52961	-0.8505	9	0.48119	T	0.1	.	5.1036	0.14772	0.3654:0.5355:0.0:0.099	.	648;2137;2138	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	W	2137;2137;2137;648	ENSP00000445943:R2137W;ENSP00000445091:R2137W;ENSP00000444427:R2137W;ENSP00000441117:R648W	ENSP00000445091:R2137W	R	+	1	2	ZAN	100215098	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.189000	0.17037	0.290000	0.22444	-0.252000	0.11476	CGG		0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	28	0	0	0	1	0	10	28					T	100377162	C	T	100377162	1	4	317	0	1	0	0	0	0	0	0	0	17510	759	27	1		1	ZAN	7	100377162	RNA	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	64504717	100377162	58761501	27	32005											
GRM8	2918	broad.mit.edu	37	chr7	126173579	126173579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtaactaagttcGcgtcctgaagccctcacgat	10	12	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					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)	p.R619R(1)		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)				AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)																												ENST00000339582.2																			1	Substitution - coding silent(1)	p.R619R(1)	large_intestine(1)	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						c.(1855-1857)cgC>cgT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						114	110	112					7																	126173579		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173579G>A		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.1857C>T	7.37:g.126173579G>A		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.R619R	p.R619R			O00222	GRM8_HUMAN			9	2665	-		Prostate(267;0.186)	619					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1857C>T	CCDS5794.1																																																																																				0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			33	74	0	0	0	1	0	33	74					A	126173579	G	A	126173579	2	1	317	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	25796417	126173579	32965084	28	32006											
ADCK2	90956	broad.mit.edu	37	chr7	140373257	140373257	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgccaggctctgctggcttCtgctgggcactttgcccaag	12	13	2	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:140373257C>G	ENST00000072869.4	+	1	305	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	43						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGCTGGCTTCTGCTGGGCAC	0.682																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(127-129)Ctg>Gtg		aarF domain containing kinase 2							12	13	13					7																	140373257		2196	4283	6479	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373257C>G	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.127C>G	7.37:g.140373257C>G	ENSP00000072869:p.Leu43Val					ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V	p.L43V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	305	+	Melanoma(164;0.00956)		43					Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.127C>G	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587443	0.46110	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.48522	0.81;0.81	4.54	2.72	0.32119	.	0.000000	0.34959	N	0.003552	T	0.54159	0.1841	L	0.43923	1.385	0.28351	N	0.920919	D;D	0.71674	0.998;0.989	D;P	0.63877	0.919;0.825	T	0.49925	-0.8887	10	0.66056	D	0.02	-46.0466	9.2845	0.37749	0.0:0.8209:0.0:0.1791	.	43;43	C9JE15;Q7Z695	.;ADCK2_HUMAN	V	43	ENSP00000072869:L43V;ENSP00000420512:L43V	ENSP00000072869:L43V	L	+	1	2	ADCK2	140019726	0.957000	0.32711	0.998000	0.56505	0.095000	0.18619	0.025000	0.13577	0.372000	0.24591	-0.339000	0.08088	CTG		0.682	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		19	34	0	0	0	1	0	19	34					G	140373257	C	G	140373257	3	3	317	1	0	0	0	0	1	0	0	0	289	912	32	4	129	4	ADCK2	7	140373257	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14199678	140373257	18765406	29	32007											
TRPV6	55503	broad.mit.edu	37	chr7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccactgggtgtgcttccGcttctgcatcaggtgctgaa	12	12	2	1	rs146718533		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142573633G>A	ENST00000359396.3	-	7	1032	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	263					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTGCTTCCGCTTCTGCATC	0.522																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(787-789)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 6		G	TRP/ARG	0,4406		0,0,2203	190	147	162		787	0.1	1	7	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRPV6	NM_018646.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	263/726	142573633	1,13005	2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573633G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.787C>T	7.37:g.142573633G>A	ENSP00000352358:p.Arg263Trp					RP11-114L10.2_ENST00000438839.1_RNA	p.R263W	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			7	1032	-	Melanoma(164;0.059)		263					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.787C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770027	0.49680	0.0	1.16E-4	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.87256	-2.23	4.96	0.047	0.14278	Ankyrin repeat-containing domain (1);	0.186416	0.45361	N	0.000378	T	0.76593	0.4009	L	0.55213	1.73	0.44789	D	0.997798	P	0.40431	0.717	B	0.27380	0.079	T	0.69796	-0.5048	10	0.87932	D	0	-19.5909	5.5639	0.17160	0.1814:0.0:0.539:0.2796	.	263	Q9H1D0	TRPV6_HUMAN	W	263;95	ENSP00000352358:R263W	ENSP00000310825:R95W	R	-	1	2	TRPV6	142283755	0.973000	0.33851	0.999000	0.59377	0.984000	0.73092	0.203000	0.17315	0.085000	0.17107	0.655000	0.94253	CGG		0.522	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		78	170	0	0	0	1	0	78	170					A	142573633	G	A	142573633	3	1	317	1	0	0	0	0	1	0	0	0	16597	1086	38	1	1426	1	TRPV6	7	142573633	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2200376	142573633	16565030	30	32008											
TAS2R40	259286	broad.mit.edu	37	chr7	142919653	142919653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcttcagctttcctctctCgagagatgtcttcaatgtgt	8	10	4	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142919653C>T	ENST00000408947.3	+	1	524	c.482C>T	c.(481-483)tCg>tTg	p.S161L	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	161					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCCTCTCTCGAGAGATGTC	0.458																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(481-483)tCg>tTg		taste receptor, type 2, member 40							184	171	175					7																	142919653		1954	4157	6111	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919653C>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.482C>T	7.37:g.142919653C>T	ENSP00000386210:p.Ser161Leu						p.S161L	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	524	+	Melanoma(164;0.059)		161					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.482C>T	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.335801	0.01287	.	.	ENSG00000221937	ENST00000408947	T	0.00675	5.88	5.74	-7.73	0.01245	.	1.055010	0.07484	U	0.904472	T	0.00695	0.0023	L	0.52206	1.635	0.09310	N	1	B	0.23316	0.083	B	0.16722	0.016	T	0.46205	-0.9208	10	0.11182	T	0.66	.	5.3197	0.15874	0.0829:0.2108:0.1642:0.5421	.	161	P59535	T2R40_HUMAN	L	161	ENSP00000386210:S161L	ENSP00000386210:S161L	S	+	2	0	TAS2R40	142629775	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.971000	0.01503	-1.573000	0.01659	-0.878000	0.02970	TCG		0.458	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			62	150	0	0	0	1	0	62	150					T	142919653	C	T	142919653	3	4	317	1	0	0	0	0	1	0	0	0	15575	893	31	1	484	1	TAS2R40	7	142919653	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	346020	142919653	16219010	31	32009											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259309	147259309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatagatcctgatggcagCggacctctggggcctctgaa	14	10	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:147259309C>T	ENST00000361727.3	+	12	2373	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	619	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)			CTGATGGCAGCGGACCTCTGG	0.398										HNSCC(39;0.1)																												ENST00000361727.3																			0				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						c.(1855-1857)agC>agT		contactin associated protein-like 2							109	106	107					7																	147259309		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259309C>T	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.1857C>T	7.37:g.147259309C>T		HNSCC(39;0.1)					p.S619S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2373	+	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)	619			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1857C>T	CCDS5889.1																																																																																				0.398	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			42	94	0	0	0	1	0	42	94					T	147259309	C	T	147259309	2	4	317	1	0	0	0	0	0	0	0	1	3647	767	27	1		1	CNTNAP2	7	147259309	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	4339656	147259309	11879354	32	32010											
DEFA4	1669	broad.mit.edu	37	chr8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaacgttaatcgacacGcgtgcagcagtatgtgaaac	11	9	0	2	rs559546450		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:6793553G>A	ENST00000297435.2	-	3	407	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	95					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507																																						ENST00000297435.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(283-285)Cgt>Tgt		defensin, alpha 4, corticostatin							152	134	140					8																	6793553		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6793553G>A	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"Defensins, alpha"	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.283C>T	8.37:g.6793553G>A	ENSP00000297435:p.Arg95Cys						p.R95C	NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	3	407	-			95					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.283C>T	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	5.411	0.260971	0.10239	.	.	ENSG00000164821	ENST00000297435	T	0.26067	1.76	0.195	0.195	0.15151	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.01281	0.0	T	0.26326	-1.0106	7	0.87932	D	0	.	.	.	.	.	95	P12838	DEF4_HUMAN	C	95	ENSP00000297435:R95C	ENSP00000297435:R95C	R	-	1	0	DEFA4	6780963	0.064000	0.20934	0.007000	0.13788	0.006000	0.05464	0.000000	0.12993	0.300000	0.22699	0.306000	0.20318	CGT		0.507	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		66	51	0	0	0	1	0	66	51					A	6793553	G	A	6793553	3	1	317	1	0	0	0	0	1	0	0	0	4391	1087	38	1	14	1	DEFA4	8	6793553	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		6793553	139570469	33	32011											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		6	14	0	0	0	1	0	6	14					G	41790659	T	G	41790659	2	3	317	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08	34997106	41790659	104573363	34	32012											
FER1L6	654463	broad.mit.edu	37	chr8	125107242	125107242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaacacatagaaactcGgccactgtaccacaaggata	7	12	0	2	rs533143433		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:125107242G>A	ENST00000522917.1	+	35	4864	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1553						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATAGAAACTCGGCCACTGTAC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18547	0.001		0.0	False		,,,				2504	0.0					ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4657-4659)cGg>cAg		fer-1-like 6 (C. elegans)							87	81	83					8																	125107242		1926	4143	6069	SO:0001583	missense	654463					integral to membrane		g.chr8:125107242G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4658G>A	8.37:g.125107242G>A	ENSP00000428280:p.Arg1553Gln					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q	p.R1553Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		35	4864	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1553						Missense_Mutation	SNP	ENST00000522917.1	37	c.4658G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601886	0.96614	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86627	-2.15;-2.15	5.52	5.52	0.82312	.	0.000000	0.85682	U	0.000000	D	0.95137	0.8424	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.95369	0.8462	10	0.59425	D	0.04	-24.2273	19.8	0.96502	0.0:0.0:1.0:0.0	.	1553	Q2WGJ9	FR1L6_HUMAN	Q	1553	ENSP00000428280:R1553Q;ENSP00000381982:R1553Q	ENSP00000381982:R1553Q	R	+	2	0	FER1L6	125176423	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	9.740000	0.98839	2.754000	0.94517	0.551000	0.68910	CGG		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		14	39	0	0	0	1	0	14	39					A	125107242	G	A	125107242	3	1	317	1	0	0	0	0	1	0	0	0	5815	1116	39	1	4792	1	FER1L6	8	125107242	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	83316583	125107242	21256780	35	32013											
EPPK1	83481	broad.mit.edu	37	chr8	144941624	144941624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacccggtggcggcctgcGcctccagcagccaagtcgca	14	16	0	0	rs561179913		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144941624G>A	ENST00000525985.1	-	2	5869	c.5798C>T	c.(5797-5799)gCg>gTg	p.A1933V				P58107	EPIPL_HUMAN	epiplakin 1	1933						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)			GGCGGCCTGCGCCTCCAGCAG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16171	0.0		0.001	False		,,,				2504	0.0					ENST00000525985.1																			0				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						c.(5797-5799)gCg>gTg		epiplakin 1							26	33	31					8																	144941624		2045	4159	6204	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941624G>A	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.5798C>T	8.37:g.144941624G>A	ENSP00000436337:p.Ala1933Val						p.A1933V			P58107	EPIPL_HUMAN	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)		2	5869	-	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)		1933					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5798C>T		.	.	.	.	.	.	.	.	.	.	G	20.5	4.008244	0.75046	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.73	4.73	0.59995	.	.	.	.	.	D	0.88070	0.6338	M	0.80982	2.52	0.44966	D	0.997985	D	0.89917	1.0	D	0.91635	0.999	D	0.89676	0.3887	9	0.87932	D	0	.	15.2258	0.73352	0.0:0.0:1.0:0.0	.	1933	E9PPU0	.	V	1933	ENSP00000436337:A1933V	ENSP00000436337:A1933V	A	-	2	0	EPPK1	145013612	1.000000	0.71417	0.946000	0.38457	0.056000	0.15407	9.489000	0.97949	2.459000	0.83118	0.585000	0.79938	GCG		0.667	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		35	64	0	0	0	1	0	35	64					A	144941624	G	A	144941624	3	1	317	1	0	0	0	0	1	0	0	0	5190	1087	38	1	1468	1	EPPK1	8	144941624	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	19834382	144941624	1422398	36	32014											
PLEC	5339	broad.mit.edu	37	chr8	144990367	144990367	+	Frame_Shift_Del	DEL	C	C	-													aggccacggcagactcagggCcccccagggaggccgaggac							TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144990367delC	ENST00000322810.4	-	32	14202	c.14033delG	c.(14032-14034)ggcfs	p.G4678fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4678	Globular 2.				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						AGACTCAGGGCCCCCCAGGGA	0.716																																						ENST00000322810.4																			0				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						c.(14032-14034)gcfs		plectin							2	2	2					8																	144990367		1157	2769	3926	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990367delC	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.14033delG	8.37:g.144990367delC	ENSP00000323856:p.Gly4678fs					PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs	p.G4678fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	14202	-			4678			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.14033delG	CCDS43772.1																																																																																				0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		2	4						2	4	---	---	---	---	-	144990367	C	-	144990367	7	5	317	1	0	1	0	1	0	0	0	0	12052	739	26	0	25	0	PLEC	8	144990367	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	48743	144990367	1373655	37	32015											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18906845	18906845	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caacaaggcagtgcctgagcAcctgtgctcctgggggcccc	13	15	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:18906845A>T	ENST00000380548.4	+	28	5456	c.5117A>T	c.(5116-5118)cAc>cTc	p.H1706L	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1706	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		GTGCCTGAGCACCTGTGCTCC	0.597																																						ENST00000380548.4																			0				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						c.(5116-5118)cAc>cTc		ADAMTS-like 1							70	81	78					9																	18906845		2067	4187	6254	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906845A>T	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.5117A>T	9.37:g.18906845A>T	ENSP00000369921:p.His1706Leu					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L	p.H1706L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5456	+			1706			TSP type-1 9.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.5117A>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.758088	0.89843	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.59638	0.25;0.25	5.28	5.28	0.74379	.	0.164345	0.40385	N	0.001109	T	0.66674	0.2813	L	0.40543	1.245	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.74674	0.984;0.961;0.914	T	0.63319	-0.6664	10	0.27082	T	0.32	.	15.2116	0.73227	1.0:0.0:0.0:0.0	.	1207;407;1706	A2A344;Q8N6G6-6;Q8N6G6	.;.;ATL1_HUMAN	L	1706;407;410	ENSP00000369921:H1706L;ENSP00000369918:H407L	ENSP00000325584:H410L	H	+	2	0	ADAMTSL1	18896845	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.105000	0.57797	2.004000	0.58718	0.374000	0.22700	CAC		0.597	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			4	69	0	0	0	1	0	4	69					T	18906845	A	T	18906845	3	4	317	1	0	0	0	0	1	0	0	0	274	159	6	5	5231	5	ADAMTSL1	9	18906845	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		18906845	122306586	38	32016											
RUSC2	9853	broad.mit.edu	37	chr9	35546640	35546640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggaggtggtgggagcacaaGacctaatcccttctgcccac	12	12	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35546640G>C	ENST00000455600.1	+	2	691	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(121-123)aGa>aCa		RUN and SH3 domain containing 2							77	72	74					9																	35546640		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35546640G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.122G>C	9.37:g.35546640G>C	ENSP00000393922:p.Arg41Thr					RUSC2_ENST00000468041.1_3'UTR	p.R41T	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	691	+			41					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.122G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986441	0.53934	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.48201	0.82;0.82	6.08	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.34521	1.04	0.45733	D	0.998631	P	0.36599	0.56	B	0.33121	0.158	T	0.38950	-0.9637	10	0.87932	D	0	-11.5968	16.5134	0.84293	0.0:0.1309:0.8691:0.0	.	41	Q8N2Y8	RUSC2_HUMAN	T	41	ENSP00000355177:R41T;ENSP00000393922:R41T	ENSP00000355177:R41T	R	+	2	0	RUSC2	35536640	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.959000	0.76031	1.564000	0.49628	-0.175000	0.13238	AGA		0.592	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		6	83	0	0	0	1	0	6	83					C	35546640	G	C	35546640	3	2	317	1	0	0	0	0	1	0	0	0	13751	942	33	4	124	4	RUSC2	9	35546640	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	16639795	35546640	105666791	39	32017											
RUSC2	9853	broad.mit.edu	37	chr9	35548107	35548107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgagtgagggccctgcagCcatggccgggcctggctccc	15	15	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35548107C>A	ENST00000455600.1	+	2	2158	c.1589C>A	c.(1588-1590)gCc>gAc	p.A530D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	530						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGCAGCCATGGCCGGG	0.667																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1588-1590)gCc>gAc		RUN and SH3 domain containing 2							23	25	24					9																	35548107		2201	4296	6497	SO:0001583	missense	9853					cytosol		g.chr9:35548107C>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1589C>A	9.37:g.35548107C>A	ENSP00000393922:p.Ala530Asp						p.A530D	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2158	+			530					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1589C>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936145	0.34189	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.25414	1.8;1.8	5.67	2.84	0.33178	.	0.665181	0.14956	N	0.288630	T	0.16385	0.0394	L	0.29908	0.895	0.21220	N	0.99975	P	0.37015	0.578	B	0.33890	0.172	T	0.11591	-1.0581	10	0.54805	T	0.06	-3.0072	6.7221	0.23336	0.0:0.6874:0.1556:0.157	.	530	Q8N2Y8	RUSC2_HUMAN	D	530	ENSP00000355177:A530D;ENSP00000393922:A530D	ENSP00000355177:A530D	A	+	2	0	RUSC2	35538107	0.035000	0.19736	0.998000	0.56505	0.936000	0.57629	3.370000	0.52372	0.331000	0.23511	0.655000	0.94253	GCC		0.667	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		15	36	1	0	1.5739e-10	1	1.63502e-10	15	36					A	35548107	C	A	35548107	3	1	317	1	0	0	0	0	1	0	0	0	13751	739	26	4	1591	4	RUSC2	9	35548107	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	1467	35548107	105665324	40	32018											
PTAR1	375743	broad.mit.edu	37	chr9	72349082	72349082	+	Frame_Shift_Del	DEL	C	C	-													acacctgtgaatccatgtttCtggactctttggaaacttgg							TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:72349082delC	ENST00000340434.4	-	4	415	c.412delG	c.(412-414)gaafs	p.E138fs	PTAR1_ENST00000377200.5_Frame_Shift_Del_p.E59fs	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	138					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATCCATGTTTCTGGACTCTTT	0.388																																						ENST00000377200.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(175-177)aafs		protein prenyltransferase alpha subunit repeat containing 1							105	101	102					9																	72349082		1834	4083	5917	SO:0001589	frameshift_variant	375743				protein prenylation		protein prenyltransferase activity	g.chr9:72349082delC	BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.412delG	9.37:g.72349082delC	ENSP00000344299:p.Glu138fs					PTAR1_ENST00000340434.4_Frame_Shift_Del_p.E138fs	p.E59fs			Q7Z6K3	PTAR1_HUMAN			2	177	-			138					Q5T7V5|Q5T7V6	Frame_Shift_Del	DEL	ENST00000340434.4	37	c.175delG	CCDS47978.1																																																																																				0.388	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052582.4	NM_001099666		16	17						16	17	---	---	---	---	-	72349082	C	-	72349082	7	5	317	1	0	1	0	1	0	0	0	0	12724	922	32	0	816	0	PTAR1	9	72349082	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	36800975	72349082	68864349	41	32019											
WAPAL	23063	broad.mit.edu	37	chr10	88231975	88231975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcttacctaaggcaacGtgtgtttagaggctgagtgc	12	7	1	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:88231975G>A	ENST00000298767.5	-	7	2492	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	674	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						CTAAGGCAACGTGTGTTTAGA	0.333																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(2020-2022)Cgt>Tgt		wings apart-like homolog (Drosophila)							109	102	104					10																	88231975		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88231975G>A	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.2020C>T	10.37:g.88231975G>A	ENSP00000298767:p.Arg674Cys						p.R674C	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			7	2492	-			674			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.2020C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203739	0.79127	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.57436	0.4	6.03	6.03	0.97812	Armadillo-type fold (1);	0.064020	0.64402	N	0.000006	T	0.73305	0.3570	M	0.85041	2.73	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.55871	0.786;0.786;0.781	T	0.76769	-0.2837	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	668;674;711	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	C	759;674;759	ENSP00000298767:R674C	ENSP00000298767:R674C	R	-	1	0	WAPAL	88221955	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.442000	0.66575	2.854000	0.98071	0.655000	0.94253	CGT		0.333	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		16	6	0	0	0	1	0	16	6					A	88231975	G	A	88231975	3	1	317	1	0	0	0	0	1	0	0	0	17245	1145	40	1	1604	1	WAPAL	10	88231975	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		88231975	47302772	42	32020											
PTEN	5728	broad.mit.edu	37	chr10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacaatcatgttgcaGcaattcactgtaaagctgga	9	7	2	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		A -> G (in HNSCC). {ECO:0000269|PubMed:11801303}.|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		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.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(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)		TCATGTTGCAGCAATTCACTG	0.393		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(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						c.(361-363)Gca>Aca		phosphatase and tensin homolog							138	127	131					10																	89692877		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692877G>A	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.361G>A	10.37:g.89692877G>A	ENSP00000361021:p.Ala121Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A121T	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	5	1718	+		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)	121		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.361G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440465	0.96168	.	.	ENSG00000171862	ENST00000371953	D	0.85861	-2.04	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	H	0.95365	3.66	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	D	0.96215	0.9156	9	.	.	.	-11.9241	18.7776	0.91918	0.0:0.0:1.0:0.0	.	121	P60484	PTEN_HUMAN	T	121	ENSP00000361021:A121T	.	A	+	1	0	PTEN	89682857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GCA		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		54	23	0	0	0	1	0	54	23					A	89692877	G	A	89692877	3	1	317	1	0	0	0	0	1	0	0	0	12738	971	34	2	379	2	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	1460902	89692877	45841870	43	32021											
TNNT3	7140	broad.mit.edu	37	chr11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttggggagaagctgaaaCgccagaaatatgacgtgagt	14	5	0	5	rs367658497		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:1956135C>T	ENST00000397301.1	+	15	708	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000381558.1_Missense_Mutation_p.R215C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612																																						ENST00000381558.1																			1	Substitution - Missense(1)	p.R223C(1)	ovary(1)	breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(643-645)Cgc>Tgc		troponin T type 3 (skeletal, fast)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	123	127	126		643,661,643,667	3.2	1	11		126	1,8597		0,1,4298	no	missense,missense,missense,missense	TNNT3	NM_001042780.2,NM_001042781.2,NM_001042782.2,NM_006757.3	180,180,180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	215/251,221/257,215/251,223/259	1956135	1,13001	2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956135C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.700C>T	11.37:g.1956135C>T	ENSP00000380468:p.Arg234Cys					TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C	p.R215C			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	13	922	+		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)	234					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.643C>T		.	.	.	.	.	.	.	.	.	.	.	15.09	2.730135	0.48939	0.0	1.16E-4	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;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;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	4.28	3.21	0.36854	.	0.106561	0.56097	D	0.000034	D	0.89413	0.6708	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.66847	0.947;0.947;0.947;0.947;0.886	D	0.89963	0.4088	10	0.87932	D	0	-33.8982	9.6127	0.39672	0.4829:0.5171:0.0:0.0	.	223;215;221;215;234	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	C	223;235;226;225;217;215;221;215;209;204;226;210;215;234;204;204	ENSP00000278317:R223C;ENSP00000370973:R226C;ENSP00000370960:R225C;ENSP00000353815:R217C;ENSP00000370961:R215C;ENSP00000371001:R221C;ENSP00000370991:R215C;ENSP00000370969:R209C;ENSP00000415614:R204C;ENSP00000370975:R226C;ENSP00000344870:R210C;ENSP00000370970:R215C;ENSP00000380468:R234C;ENSP00000380471:R204C;ENSP00000413203:R204C	ENSP00000278317:R223C	R	+	1	0	TNNT3	1912711	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	2.182000	0.42556	2.113000	0.64589	0.313000	0.20887	CGC		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		95	124	0	0	0	1	0	95	124					T	1956135	C	T	1956135	3	4	317	1	0	0	0	0	1	0	0	0	16329	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		1956135	133050381	44	32022											
OR51T1	401665	broad.mit.edu	37	chr11	4903765	4903765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacctgaatggcactgaCgtattgtttattcttttctc	6	10	3	2	rs138268565	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:4903765C>T	ENST00000322049.1	+	1	636	c.636C>T	c.(634-636)gaC>gaT	p.D212D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.D239D			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212						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(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													c|||	2	0.000399361	0.0	0.0029	5008	,	,		22131	0.0		0.0	False		,,,				2504	0.0					ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(715-717)gaC>gaT		olfactory receptor, family 51, subfamily T, member 1		T		0,4402		0,0,2201	115	106	109		717	-1.6	0.7	11	dbSNP_134	109	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	OR51T1	NM_001004759.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		239/355	4903765	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903765C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.636C>T	11.37:g.4903765C>T						MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000380390.1_Intron	p.D239D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	717	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	212					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.717C>T																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		39	49	0	0	0	1	0	39	49					T	4903765	C	T	4903765	2	4	317	1	0	0	0	0	0	0	0	1	11106	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	2947630	4903765	130102751	45	32023											
AHNAK	79026	broad.mit.edu	37	chr11	62287402	62287402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggcccttcagttttgcGtctggaccttcgatattcac	10	11	3	0	rs141073062		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:62287402G>A	ENST00000378024.4	-	5	14761	c.14487C>T	c.(14485-14487)gaC>gaT	p.D4829D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4829					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)				TCAGTTTTGCGTCTGGACCTT	0.488																																						ENST00000378024.4																			0				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						c.(14485-14487)gaC>gaT		AHNAK nucleoprotein		G	,	1,4403	2.1+/-5.4	0,1,2201	132	131	131		14487,	-5.4	0.6	11	dbSNP_134	131	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	,	4829/5891,	62287402	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287402G>A	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.14487C>T	11.37:g.62287402G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D4829D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14761	-		Melanoma(852;0.155)	4829					A1A586	Silent	SNP	ENST00000378024.4	37	c.14487C>T	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	186	0	0	0	1	0	4	186					A	62287402	G	A	62287402	2	1	317	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62287402	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	57383637	62287402	72719114	46	32024											
ODZ4	26011	broad.mit.edu	37	chr11	78369775	78369775	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctggcagctggtgatTgtggagccatagagctggtc	16	9	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:78369775T>C	ENST00000278550.7	-	34	8100	c.7638A>G	c.(7636-7638)acA>acG	p.T2546T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2546					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)										AGCTGGTGATTGTGGAGCCAT	0.537																																						ENST00000278550.7																			0											c.(7636-7638)acA>acG		teneurin transmembrane protein 4							63	66	65					11																	78369775		2005	4160	6165	SO:0001819	synonymous_variant	26011							g.chr11:78369775T>C	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.7638A>G	11.37:g.78369775T>C							p.T2546T	NM_001098816.2	NP_001092286.2					34	8100	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.7638A>G	CCDS44688.1																																																																																				0.537	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			48	53	0	0	0	1	0	48	53					C	78369775	T	C	78369775	2	2	317	1	0	0	0	0	0	0	0	1	10837	1799	63	3		3	ODZ4	11	78369775	Silent	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08	16082373	78369775	56636741	47	32025											
SLC6A12	6539	broad.mit.edu	37	chr12	311930	311930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaaagttgttgcaggTcgtccagggcagctcagaag	13	9	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:311930T>G	ENST00000428720.1	-	5	1209	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	156					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGTTGCAGGTCGTCCAGGGC	0.517																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(466-468)Acc>Ccc		solute carrier family 6 (neurotransmitter transporter), member 12							105	93	97					12																	311930		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:311930T>G	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.466A>C	12.37:g.311930T>G	ENSP00000388184:p.Thr156Pro					SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR	p.T156P	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		5	1209	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		156					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.466A>C	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649745	0.67358	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.48	4.31	0.51392	.	0.108387	0.64402	D	0.000010	D	0.86871	0.6037	M	0.90425	3.115	0.09310	N	0.999999	D	0.56035	0.974	D	0.68943	0.961	T	0.79640	-0.1719	10	0.48119	T	0.1	.	11.5616	0.50780	0.0:0.0709:0.0:0.9291	.	156	P48065	S6A12_HUMAN	P	156	ENSP00000352702:T156P;ENSP00000380464:T156P;ENSP00000388184:T156P;ENSP00000399136:T156P;ENSP00000444268:T156P	ENSP00000352702:T156P	T	-	1	0	SLC6A12	182191	0.003000	0.15002	0.605000	0.28930	0.946000	0.59487	1.299000	0.33424	0.885000	0.36088	0.460000	0.39030	ACC		0.517	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		34	51	0	0	0	1	0	34	51					G	311930	T	G	311930	3	3	317	1	0	0	0	0	1	0	0	0	14675	1667	58	5	1426	5	SLC6A12	12	311930	Missense_Mutation	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08		311930	133539965	48	32026											
KCNH3	23416	broad.mit.edu	37	chr12	49937975	49937975	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtacttcggggcccatctGctgaagacggtgcgcctgct	13	13	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:49937975G>T	ENST00000257981.6	+	7	1259	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	333					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCCATCTGCTGAAGACGG	0.701																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(997-999)ctG>ctT		potassium voltage-gated channel, subfamily H (eag-related), member 3							15	16	15					12																	49937975		2185	4271	6456	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49937975G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.999G>T	12.37:g.49937975G>T							p.L333L	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			7	1259	+			333					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.999G>T	CCDS8786.1																																																																																				0.701	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		11	16	1	0	6.40141e-05	1	6.58607e-05	11	16					T	49937975	G	T	49937975	2	4	317	1	0	0	0	0	0	0	0	1	8033	1306	46	4		4	KCNH3	12	49937975	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	49626045	49937975	83913920	49	32027											
NACA	4666	broad.mit.edu	37	chr12	57111732	57111732	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagctggggttgtgggGgcccctttgggggatggggt	22	6	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:57111732G>T	ENST00000454682.1	-	3	3863	c.3582C>A	c.(3580-3582)gcC>gcA	p.A1194A	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1194	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGTTGTGGGGGCCCCTTTGG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3580-3582)gcC>gcA		nascent polypeptide-associated complex alpha subunit							68	78	75					12																	57111732		1117	2686	3803	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111732G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3582C>A	12.37:g.57111732G>T						NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron	p.A1194A	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3863	-			0						Silent	SNP	ENST00000454682.1	37	c.3582C>A																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	268	1	0	1	1	1	5	268					T	57111732	G	T	57111732	2	4	317	1	0	0	0	0	0	0	0	1	10133	1219	43	4		4	NACA	12	57111732	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	7173757	57111732	76740163	50	32028											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	18	9	0	0	rs534390661	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33	40	38					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		9	140	0	0	0	1	0	9	140					G	57112308	A	G	57112308	2	3	317	1	0	0	0	0	0	0	0	1	10133	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	576	57112308	76739587	51	32029											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	14	13	0	2	rs199633532		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.001	False		,,,				2504	0.0					ENST00000242592.4																			2	Substitution - Missense(2)	p.R330H(2)	prostate(1)|kidney(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067634	ACADS	M		c.(988-990)cGc>cAc		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						46	52	50					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	p.R330H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			8	1140	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		55	79	0	0	0	1	0	55	79					A	121176678	G	A	121176678	3	1	317	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	64064370	121176678	12675217	52	32030											
NPAS3	64067	broad.mit.edu	37	chr14	34263138	34263138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtgtgacaaagtactatCgctggatgcagaagaacgga	13	6	0	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr14:34263138C>T	ENST00000356141.4	+	10	1189	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C|NPAS3_ENST00000346562.2_Missense_Mutation_p.R365C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	397	PAC.				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)		AAAGTACTATCGCTGGATGCA	0.373																																						ENST00000346562.2																			0				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						c.(1093-1095)Cgc>Tgc		neuronal PAS domain protein 3							134	123	127					14																	34263138		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34263138C>T	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.1189C>T	14.37:g.34263138C>T	ENSP00000348460:p.Arg397Cys					NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C|NPAS3_ENST00000356141.4_Missense_Mutation_p.R397C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C	p.R365C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	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)	9	1167	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		397			PAC.|PAS 2.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.1093C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863755	0.71949	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.79	5.79	0.91817	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.90252	3.1	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;0.999;0.999	T	0.72239	-0.4351	10	0.87932	D	0	.	20.0367	0.97561	0.0:1.0:0.0:0.0	.	367;397;365;384	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	C	374;402;365;367;397;384	ENSP00000448373:R374C;ENSP00000450392:R402C;ENSP00000319610:R365C;ENSP00000448916:R367C;ENSP00000348460:R397C;ENSP00000350446:R384C	ENSP00000319610:R365C	R	+	1	0	NPAS3	33332889	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	4.805000	0.62561	2.741000	0.93983	0.557000	0.71058	CGC		0.373	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			23	38	0	0	0	1	0	23	38					T	34263138	C	T	34263138	3	4	317	1	0	0	0	0	1	0	0	0	10564	884	31	1	1282	1	NPAS3	14	34263138	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34263138	73086402	53	32031											
LRRK1	79705	broad.mit.edu	37	chr15	101569184	101569184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttcctcatagaaaccGgcaccctgctccatttcccg	6	17	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr15:101569184G>A	ENST00000388948.3	+	20	3069	c.2710G>A	c.(2710-2712)Ggc>Agc	p.G904S	LRRK1_ENST00000284395.5_Missense_Mutation_p.G901S	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)			CATAGAAACCGGCACCCTGCT	0.552																																						ENST00000284395.5																			0				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						c.(2701-2703)Ggc>Agc		leucine-rich repeat kinase 1							93	101	98					15																	101569184		1953	4148	6101	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101569184G>A	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.2710G>A	15.37:g.101569184G>A	ENSP00000373600:p.Gly904Ser					LRRK1_ENST00000388948.3_Missense_Mutation_p.G904S	p.G901S			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		21	3101	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		904						Missense_Mutation	SNP	ENST00000388948.3	37	c.2701G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109935	0.77210	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.92099	-2.87;-2.97	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96675	0.9499	10	0.72032	D	0.01	.	18.5571	0.91089	0.0:0.0:1.0:0.0	.	904	Q38SD2	LRRK1_HUMAN	S	904;901	ENSP00000373600:G904S;ENSP00000284395:G901S	ENSP00000284395:G901S	G	+	1	0	LRRK1	99386707	1.000000	0.71417	0.713000	0.30519	0.149000	0.21700	9.261000	0.95576	2.391000	0.81399	0.655000	0.94253	GGC		0.552	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		4	245	0	0	0	1	0	4	245					A	101569184	G	A	101569184	3	1	317	1	0	0	0	0	1	0	0	0	9032	1116	39	1	2784	1	LRRK1	15	101569184	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		101569184	962208	54	32032											
TELO2	9894	broad.mit.edu	37	chr16	1552359	1552359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgggaggcagccctgcGggcccttgagggcctggtct	18	13	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:1552359G>A	ENST00000262319.6	+	13	1886	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	536					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCCTGCGGGCCCTTGAG	0.667																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1606-1608)cGg>cAg		telomere maintenance 2							7	9	8					16																	1552359		2106	4158	6264	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1552359G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1607G>A	16.37:g.1552359G>A	ENSP00000262319:p.Arg536Gln					TELO2_ENST00000564507.1_3'UTR	p.R536Q	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			13	1886	+		Hepatocellular(780;0.219)	536					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1607G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133041	0.21041	.	.	ENSG00000100726	ENST00000262319	T	0.32753	1.44	5.3	1.59	0.23543	Telomere length regulation protein, conserved domain (1);	0.829461	0.11131	N	0.596382	T	0.11324	0.0276	N	0.04132	-0.27	0.20563	N	0.999884	B	0.20988	0.05	B	0.12837	0.008	T	0.35076	-0.9803	10	0.11485	T	0.65	-17.5002	4.8766	0.13658	0.3577:0.2598:0.3825:0.0	.	536	Q9Y4R8	TELO2_HUMAN	Q	536	ENSP00000262319:R536Q	ENSP00000262319:R536Q	R	+	2	0	TELO2	1492360	0.122000	0.22280	0.983000	0.44433	0.601000	0.36947	-0.225000	0.09151	0.528000	0.28580	0.462000	0.41574	CGG		0.667	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		14	12	0	0	0	1	0	14	12					A	1552359	G	A	1552359	3	1	317	1	0	0	0	0	1	0	0	0	15754	1116	39	1	1653	1	TELO2	16	1552359	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		1552359	88802394	55	32033											
PRSS27	83886	broad.mit.edu	37	chr16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccctcaccccagctgatcAcccccgcctgcagccacgac	7	22	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(736-738)gTg>gGg		protease, serine 27							27	24	25					16																	2762757		2178	4284	6462	SO:0001583	missense	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2762757A>C	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.737T>G	16.37:g.2762757A>C	ENSP00000306390:p.Val246Gly						p.V246G	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			6	791	-			246			Peptidase S1.			Missense_Mutation	SNP	ENST00000302641.3	37	c.737T>G	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030268	0.54790	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.85861	-2.04	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000182	D	0.94670	0.8281	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.96007	0.8998	10	0.87932	D	0	.	13.0312	0.58842	1.0:0.0:0.0:0.0	.	246;210	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	246;210	ENSP00000306390:V246G	ENSP00000306390:V246G	V	-	2	0	PRSS27	2702758	0.956000	0.32656	0.212000	0.23672	0.512000	0.34134	8.849000	0.92178	1.969000	0.57287	0.459000	0.35465	GTG		0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		6	8	0	0	0	1	0	6	8					C	2762757	A	C	2762757	3	2	317	1	0	0	0	0	1	0	0	0	12621	159	6	5	139	5	PRSS27	16	2762757	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	1210398	2762757	87591996	56	32034											
CES8	283848	broad.mit.edu	37	chr16	67034837	67034837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgacttggccgcccgCgagaaagtggtgctggtgtt	16	10	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:67034837C>T	ENST00000326686.5	+	4	480	c.480C>T	c.(478-480)cgC>cgT	p.R160R	CES4A_ENST00000338718.4_Silent_p.R183R|CES4A_ENST00000540579.1_Silent_p.R62R|CES4A_ENST00000398354.1_Silent_p.R160R|CES4A_ENST00000540947.2_Silent_p.R160R|CES4A_ENST00000535696.1_Silent_p.R62R|CES4A_ENST00000541479.1_Silent_p.R183R			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	160						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGGCCGCCCGCGAGAAAGTGG	0.647																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(478-480)cgC>cgT		carboxylesterase 4A							22	24	24					16																	67034837		1988	4149	6137	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67034837C>T	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.480C>T	16.37:g.67034837C>T						CES4A_ENST00000338718.4_Silent_p.R183R|CES4A_ENST00000541479.1_Silent_p.R183R|CES4A_ENST00000535696.1_Silent_p.R62R|CES4A_ENST00000326686.5_Silent_p.R160R|CES4A_ENST00000540579.1_Silent_p.R62R|CES4A_ENST00000398354.1_Silent_p.R160R	p.R160R	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			4	664	+			160					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.480C>T																																																																																					0.647	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		16	35	0	0	0	1	0	16	35					T	67034837	C	T	67034837	2	4	317	1	0	0	0	0	0	0	0	1	3273	755	27	1		1	CES8	16	67034837	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	64272080	67034837	23319916	57	32035											
DNAH2	146754	broad.mit.edu	37	chr17	7637984	7637984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgcaccttgccaagtcGtcctacttggcgccctttat	7	15	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:7637984G>A	ENST00000572933.1	+	7	2396	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	312	Stem. {ECO:0000250}.		S -> T (in dbSNP:rs3744254).		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)	p.S312S(1)		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)				TTGCCAAGTCGTCCTACTTGG	0.522																																						ENST00000572933.1																			1	Substitution - coding silent(1)	p.S312S(1)	lung(1)	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						c.(934-936)tcG>tcA		dynein, axonemal, heavy chain 2							103	87	93					17																	7637984		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7637984G>A	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.936G>A	17.37:g.7637984G>A						DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S	p.S312S			Q9P225	DYH2_HUMAN			7	2396	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	312		S -> T (in dbSNP:rs3744254).	Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.936G>A	CCDS32551.1																																																																																				0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		32	53	0	0	0	1	0	32	53					A	7637984	G	A	7637984	2	1	317	1	0	0	0	0	0	0	0	1	4602	1132	40	1		1	DNAH2	17	7637984	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		7637984	73557226	58	32036											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216517	8216517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcaggatgccaccattttCggggaccccccacagccaga	11	15	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8216517C>T	ENST00000361926.3	+	3	989	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_ENST00000421050.1_Silent_p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	293					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						CCACCATTTTCGGGGACCCCC	0.592																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(877-879)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 15							55	52	53					17																	8216517		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216517C>T	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.879C>T	17.37:g.8216517C>T						ARHGEF15_ENST00000421050.1_Silent_p.F293F	p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	989	+			293					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.879C>T	CCDS11139.1																																																																																				0.592	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		33	55	0	0	0	1	0	33	55					T	8216517	C	T	8216517	2	4	317	1	0	0	0	0	0	0	0	1	898	883	31	1		1	ARHGEF15	17	8216517	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	578533	8216517	72978693	59	32037											
MYH10	4628	broad.mit.edu	37	chr17	8379260	8379260	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgatggggccAccccgcctggagaacacagg	15	11	0	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8379260A>C	ENST00000269243.4	-	41	5931	c.5793T>G	c.(5791-5793)ggT>ggG	p.G1931G	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.G1947G|MYH10_ENST00000360416.3_Silent_p.G1962G|MYH10_ENST00000396239.1_Silent_p.G1952G	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1931					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						TGATGGGGCCACCCCGCCTGG	0.567																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5884-5886)ggT>ggG		myosin, heavy chain 10, non-muscle							55	55	55					17																	8379260		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8379260A>C	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.5793T>G	17.37:g.8379260A>C						MYH10_ENST00000396239.1_Silent_p.G1952G|MYH10_ENST00000269243.4_Silent_p.G1931G|MYH10_ENST00000379980.4_Silent_p.G1947G|NDEL1_ENST00000299734.7_Intron	p.G1962G	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			43	6024	-			1931					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.5886T>G	CCDS11144.1																																																																																				0.567	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			12	60	0	0	0	1	0	12	60					C	8379260	A	C	8379260	2	2	317	1	0	0	0	0	0	0	0	1	10030	146	6	5		5	MYH10	17	8379260	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	162743	8379260	72815950	60	32038											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274238	39274238	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacacagcagctggggcgAcagcagctggagatgcagca	15	11	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(328-330)tgT>tgC		keratin associated protein 4-11							5	9	8					17																	39274238		657	1550	2207	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274238A>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.330T>C	17.37:g.39274238A>G							p.C110C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	368	-		Breast(137;0.000496)	110			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.330T>C	CCDS45675.1																																																																																				0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	69	0	0	0	1	0	5	69					G	39274238	A	G	39274238	2	3	317	1	0	0	0	0	0	0	0	1	8549	273	10	3		3	KRTAP4-11	17	39274238	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	30894978	39274238	41920972	61	32039											
SEC11C	90701	broad.mit.edu	37	chr18	56823020	56823020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctggaaaagaaggacGtggtgggaagagcaagaggg	19	4	0	3	rs115898236		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:56823020G>A	ENST00000587834.1	+	4	920	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAAGAAGGACGTGGTGGGAAG	0.363													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17207	0.0		0.0	False		,,,				2504	0.0					ENST00000587834.1																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9						c.(448-450)Gtg>Atg		SEC11 homolog C (S. cerevisiae)							90	97	95					18																	56823020		2203	4300	6503	SO:0001583	missense	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56823020G>A	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"SEC11-like 3 (S. cerevisiae)"	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.448G>A	18.37:g.56823020G>A	ENSP00000468633:p.Val150Met					SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M	p.V150M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN			4	920	+		Colorectal(73;0.175)	150					B2RAA3	Missense_Mutation	SNP	ENST00000587834.1	37	c.448G>A	CCDS11970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	18.28	3.588238	0.66105	.	.	ENSG00000166562	ENST00000299714;ENST00000509791	.	.	.	5.68	5.68	0.88126	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);	0.000000	0.64402	D	0.000009	T	0.65668	0.2713	M	0.84773	2.715	0.80722	D	1	P	0.46621	0.881	B	0.34536	0.185	T	0.74583	-0.3617	9	0.54805	T	0.06	-19.7812	19.4184	0.94710	0.0:0.0:1.0:0.0	.	150	Q9BY50	SC11C_HUMAN	M	150	.	ENSP00000299714:V150M	V	+	1	0	SEC11C	54974000	1.000000	0.71417	0.996000	0.52242	0.757000	0.42996	9.866000	0.99616	2.679000	0.91253	0.645000	0.84053	GTG		0.363	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280		29	48	0	0	0	1	0	29	48					A	56823020	G	A	56823020	3	1	317	1	0	0	0	0	1	0	0	0	13979	1145	40	1	462	1	SEC11C	18	56823020	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56823020	21254228	62	32040											
TUBB4	10382	broad.mit.edu	37	chr19	6495759	6495759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttgacggccagcttgcGcaggtcggcgttcagctggc	15	12	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:6495759G>A	ENST00000264071.2	-	4	1122	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251C|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	251					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|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)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GCCAGCTTGCGCAGGTCGGCG	0.682																																						ENST00000264071.2																			0											c.(751-753)Cgc>Tgc		tubulin, beta 4A class IVa							57	55	55					19																	6495759		2203	4299	6502	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495759G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.751C>T	19.37:g.6495759G>A	ENSP00000264071:p.Arg251Cys					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R251C	p.R251C			P04350	TBB4_HUMAN			4	1122	-			251					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.751C>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561978	0.45590	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84873	-1.91;-1.91	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000001	D	0.94391	0.8196	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.96193	0.9139	10	0.87932	D	0	.	14.8127	0.70008	0.0:0.0:1.0:0.0	.	251	P04350	TBB4A_HUMAN	C	251;251;169	ENSP00000264071:R251C;ENSP00000443590:R251C	ENSP00000264071:R251C	R	-	1	0	TUBB4	6446759	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.664000	0.83830	1.750000	0.51863	0.485000	0.47835	CGC		0.682	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		45	139	0	0	0	1	0	45	139					A	6495759	G	A	6495759	3	1	317	1	0	0	0	0	1	0	0	0	16755	1087	38	1	587	1	TUBB4	19	6495759	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		6495759	52633224	63	32041											
CD22	933	broad.mit.edu	37	chr19	35831915	35831915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatggaaaccccatggcGcctgggaggagccatcgctt	13	11	0	1	rs370742313		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:35831915G>A	ENST00000085219.5	+	7	1447	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T|CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	461	Ig-like C2-type 4.				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)			ACCCCATGGCGCCTGGGAGGA	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				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						c.(1381-1383)Gcc>Acc		CD22 molecule	OspA lipoprotein(DB00045)	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	83	76	78		1117,1381,850,1381	-10.5	0	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	373/760,461/752,284/671,461/848	35831915	1,13005	2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35831915G>A	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.1381G>A	19.37:g.35831915G>A	ENSP00000085219:p.Ala461Thr					CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T	p.A461T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	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)		7	1447	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		461			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1381G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	7.152	0.583882	0.13749	0.0	1.16E-4	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.27	-10.5	0.00291	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.347650	0.04687	N	0.413425	T	0.56202	0.1969	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.15719	0.0;0.001;0.014;0.001;0.002	B;B;B;B;B	0.11329	0.001;0.001;0.006;0.001;0.001	T	0.53279	-0.8461	10	0.13108	T	0.6	.	1.3036	0.02084	0.3105:0.2528:0.2956:0.1412	.	289;461;373;461;284	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	T	461;373;284;461;341;289	ENSP00000085219:A461T;ENSP00000442279:A373T;ENSP00000339349:A284T;ENSP00000441237:A461T;ENSP00000270311:A341T;ENSP00000403822:A289T	ENSP00000085219:A461T	A	+	1	0	CD22	40523755	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.710000	0.01888	-2.519000	0.00498	-4.043000	0.00012	GCC		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		33	96	0	0	0	1	0	33	96					A	35831915	G	A	35831915	3	1	317	1	0	0	0	0	1	0	0	0	2985	1087	38	1	1403	1	CD22	19	35831915	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	29336156	35831915	23297068	64	32042											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572687	38572687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccccggtcccccggcaGggccttcctcccccttcggc	12	21	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:38572687G>A	ENST00000222345.6	+	3	991	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	161					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)			TCCCCCGGCAGGGCCTTCCTC	0.711																																						ENST00000222345.6																			0				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						c.(481-483)aGg>aAg		signal-induced proliferation-associated 1 like 3							55	67	63					19																	38572687		2203	4299	6502	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572687G>A	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.482G>A	19.37:g.38572687G>A	ENSP00000222345:p.Arg161Lys						p.R161K	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	991	+			161					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.482G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491773	0.44249	.	.	ENSG00000105738	ENST00000222345	T	0.74947	-0.89	5.22	5.22	0.72569	.	0.128140	0.37219	N	0.002189	T	0.56292	0.1975	N	0.12746	0.255	0.32947	D	0.519221	B	0.31640	0.333	B	0.30495	0.116	T	0.58869	-0.7560	10	0.08381	T	0.77	-33.9507	17.5458	0.87861	0.0:0.0:1.0:0.0	.	161	O60292	SI1L3_HUMAN	K	161	ENSP00000222345:R161K	ENSP00000222345:R161K	R	+	2	0	SIPA1L3	43264527	0.447000	0.25673	0.998000	0.56505	0.873000	0.50193	2.088000	0.41663	2.434000	0.82447	0.563000	0.77884	AGG		0.711	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		71	153	0	0	0	1	0	71	153					A	38572687	G	A	38572687	3	1	317	1	0	0	0	0	1	0	0	0	14331	1000	35	2	484	2	SIPA1L3	19	38572687	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2740772	38572687	20556296	65	32043											
ZNF331	55422	broad.mit.edu	37	chr19	54081063	54081063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgggtgtacagaatgtGggaagagctttagtcacggc	14	7	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:54081063G>A	ENST00000253144.9	+	7	2582	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R|ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	417					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)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TACAGAATGTGGGAAGAGCTT	0.473			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1249-1251)Ggg>Agg		zinc finger protein 331							67	59	62					19																	54081063		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081063G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1249G>A	19.37:g.54081063G>A	ENSP00000253144:p.Gly417Arg					ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R|ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R	p.G417R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2582	+			417					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1249G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501712	0.64298	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	3.77	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240363	0.21636	N	0.071420	T	0.42854	0.1221	M	0.78285	2.405	0.35653	D	0.811952	D	0.65815	0.995	P	0.61003	0.882	T	0.58901	-0.7554	10	0.56958	D	0.05	.	13.4675	0.61263	0.0:0.0:1.0:0.0	.	417	Q9NQX6	ZN331_HUMAN	R	417	ENSP00000253144:G417R;ENSP00000427439:G417R;ENSP00000393817:G417R;ENSP00000393336:G417R;ENSP00000421014:G417R;ENSP00000423156:G417R;ENSP00000421728:G417R	ENSP00000253144:G417R	G	+	1	0	ZNF331	58772875	1.000000	0.71417	0.978000	0.43139	0.463000	0.32649	6.112000	0.71547	2.100000	0.63781	0.655000	0.94253	GGG		0.473	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		17	50	0	0	0	1	0	17	50					A	54081063	G	A	54081063	3	1	317	1	0	0	0	0	1	0	0	0	17846	1348	47	2	1259	2	ZNF331	19	54081063	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	15508376	54081063	5047920	66	32044											
LAMA5	3911	broad.mit.edu	37	chr20	60885876	60885876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccggttcttctcccagcGcacggagacctgggggcagg	15	13	2	1	rs569986968		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr20:60885876G>T	ENST00000252999.3	-	75	10357	c.10291C>A	c.(10291-10293)Cgc>Agc	p.R3431S	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3431	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTCTCCCAGCGCACGGAGACC	0.721																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10291-10293)Cgc>Agc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						7	10	9					20																	60885876		2126	4225	6351	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885876G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10291C>A	20.37:g.60885876G>T	ENSP00000252999:p.Arg3431Ser						p.R3431S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		75	10357	-	Breast(26;1.57e-08)		3431			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10291C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	4.539	0.100081	0.08731	.	.	ENSG00000130702	ENST00000252999	T	0.77098	-1.07	4.97	0.11	0.14611	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.594703	0.18968	N	0.126207	T	0.56543	0.1992	L	0.31420	0.93	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.25606	-1.0127	10	0.23891	T	0.37	.	1.0177	0.01511	0.189:0.1288:0.3115:0.3708	.	3431	O15230	LAMA5_HUMAN	S	3431	ENSP00000252999:R3431S	ENSP00000252999:R3431S	R	-	1	0	LAMA5	60319271	0.000000	0.05858	0.092000	0.20876	0.014000	0.08584	0.014000	0.13333	0.468000	0.27243	-0.299000	0.09455	CGC		0.721	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	19	1	0	0.115264	1	0.11746	3	19					T	60885876	G	T	60885876	3	4	317	1	0	0	0	0	1	0	0	0	8609	1087	38	4	820	4	LAMA5	20	60885876	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		60885876	2139644	67	32045											
ZNF295	49854	broad.mit.edu	37	chr21	43413378	43413378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagacaaaacaggtggcCgtggtctcttcaaagccagc	10	11	2	1	rs368914741		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:43413378C>T	ENST00000310826.5	-	3	1010	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	ZBTB21_ENST00000398505.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R276Q|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R276Q	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	276					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)										AACAGGTGGCCGTGGTCTCTT	0.428																																						ENST00000310826.5																			0											c.(826-828)cGg>cAg		zinc finger and BTB domain containing 21		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	55	54	54		827,827,827	4.7	1	21		54	0,8600		0,0,4300	no	missense,missense,missense	ZNF295	NM_001098402.1,NM_001098403.1,NM_020727.4	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	276/1067,276/866,276/1067	43413378	2,13004	2203	4300	6503	SO:0001583	missense	49854							g.chr21:43413378C>T	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.827G>A	21.37:g.43413378C>T	ENSP00000308759:p.Arg276Gln					ZBTB21_ENST00000398505.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R276Q|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R276Q|ZBTB21_ENST00000465968.1_Intron	p.R276Q	NM_001098402.1	NP_001091872.1					3	1010	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.827G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410353	0.42715	4.54E-4	0.0	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.06768	3.47;3.26;3.26;3.26	5.8	4.73	0.59995	.	0.388038	0.26863	N	0.022116	T	0.09992	0.0245	M	0.63428	1.95	0.36191	D	0.85005	B;B	0.24823	0.112;0.018	B;B	0.12156	0.007;0.002	T	0.05007	-1.0912	10	0.36615	T	0.2	-14.5334	10.5455	0.45058	0.1351:0.7881:0.0:0.0768	.	276;276	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	Q	276	ENSP00000381517:R276Q;ENSP00000308759:R276Q;ENSP00000381512:R276Q;ENSP00000381523:R276Q	ENSP00000308759:R276Q	R	-	2	0	ZNF295	42286447	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	2.850000	0.48294	2.748000	0.94277	0.655000	0.94253	CGG		0.428	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		23	46	0	0	0	1	0	23	46					T	43413378	C	T	43413378	3	4	317	1	0	0	0	0	1	0	0	0	17824	652	23	1	2377	1	ZNF295	21	43413378	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		43413378	4716517	68	32046											
PI4KA	5297	broad.mit.edu	37	chr22	21083938	21083938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcagggacagcagcagCgtcctgcgcttcatgtagta	12	12	1	0	rs531119654	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr22:21083938C>T	ENST00000572273.1	-	38	4526	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PI4KA_ENST00000255882.6_Silent_p.T1490T|PI4KA_ENST00000414196.3_Silent_p.T242T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1432					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)			ACAGCAGCAGCGTCCTGCGCT	0.597													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18490	0.0		0.0	False		,,,				2504	0.001				GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(4468-4470)acG>acA		phosphatidylinositol 4-kinase, catalytic, alpha							38	37	37					22																	21083938		2202	4299	6501	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083938C>T	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.4296G>A	22.37:g.21083938C>T						PI4KA_ENST00000414196.3_Silent_p.T242T|PI4KA_ENST00000572273.1_Silent_p.T1432T	p.T1490T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		38	4556	-	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)	1432					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4470G>A																																																																																					0.597	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	4	0	0	0	1	0	4	4					T	21083938	C	T	21083938	2	4	317	1	0	0	0	0	0	0	0	1	11873	755	27	1		1	PI4KA	22	21083938	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		21083938	30220628	69	32047											
KDM6A	7403	broad.mit.edu	37	chrX	44949046	44949046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgaagatctttatgaaGcaaatgttccagtgtatagg	9	5	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:44949046G>A	ENST00000377967.4	+	25	3648	c.3607G>A	c.(3607-3609)Gca>Aca	p.A1203T	KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1203	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						TCTTTATGAAGCAAATGTTCC	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	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						c.(3607-3609)Gca>Aca		lysine (K)-specific demethylase 6A							149	125	133					X																	44949046		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949046G>A	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.3607G>A	X.37:g.44949046G>A	ENSP00000367203:p.Ala1203Thr					KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T	p.A1203T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			25	3648	+			1203			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3607G>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.645820|2.645820	0.47258|0.47258	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.052868|.	0.85682|.	D|.	0.000000|.	T|T	0.82010|0.82010	0.4944|0.4944	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	B;P;B;B;B|.	0.41313|.	0.186;0.745;0.02;0.026;0.064|.	B;B;B;B;B|.	0.40444|.	0.096;0.329;0.02;0.057;0.137|.	D|D	0.83608|0.83608	0.0132|0.0132	10|5	0.66056|.	D|.	0.02|.	-13.5524|-13.5524	18.2517|18.2517	0.90006|0.90006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	842;1210;1158;1255;1203|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	T|N	900;1203;1158;1210;1124|800;845	ENSP00000367203:A1203T;ENSP00000437405:A1158T;ENSP00000372355:A1210T;ENSP00000443078:A1124T|.	ENSP00000334340:A900T|.	A|S	+|+	1|2	0|0	KDM6A|KDM6A	44833990|44833990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.134000|5.134000	0.64770|0.64770	2.249000|2.249000	0.74217|0.74217	0.468000|0.468000	0.43344|0.43344	GCA|AGC		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		16	33	0	0	0	1	0	16	33					A	44949046	G	A	44949046	3	1	317	1	0	0	0	0	1	0	0	0	8137	971	34	2	3705	2	KDM6A	23	44949046	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		44949046	110321514	70	32048											
ZNF41	7592	broad.mit.edu	37	chrX	47307146	47307146	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgttatgagatttgatcGgtcagtgaaggcctttccac	11	7	1	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:47307146G>A	ENST00000377065.4	-	5	2662	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675*|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	717					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(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGATTTGATCGGTCAGTGAAG	0.448																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(2023-2025)Cga>Tga		zinc finger protein 41							107	95	99					X																	47307146		2203	4300	6503	SO:0001587	stop_gained	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307146G>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2023C>T	X.37:g.47307146G>A	ENSP00000366265:p.Arg675*					ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*|ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675*	p.R675*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2662	-		all_lung(315;0.000129)	717					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Nonsense_Mutation	SNP	ENST00000377065.4	37	c.2023C>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	39	7.501389	0.98322	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	.	.	.	3.69	1.53	0.23141	.	0.000000	0.35378	N	0.003248	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1704	0.37076	0.0:0.0:0.2394:0.7605	.	.	.	.	X	675;675;685	.	ENSP00000315173:R675X	R	-	1	2	ZNF41	47192090	0.000000	0.05858	0.924000	0.36721	0.935000	0.57460	-0.136000	0.10405	0.239000	0.21243	-0.225000	0.12378	CGA		0.448	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		47	55	0	0	0	1	0	47	55					A	47307146	G	A	47307146	4	1	317	1	0	0	0	0	0	1	0	0	17886	1124	39	1	320	1	ZNF41	23	47307146	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2358100	47307146	107963414	71	32049											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177102	89177102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatatggaggccgctgcggaCggcccggctgagacccaaag	15	12	0	1	rs372625687		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:89177102C>T	ENST00000561129.2	+	1	148	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_ENST00000283891.5_Silent_p.D6D			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D6D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517																																						ENST00000561129.2																			1	Substitution - coding silent(1)	p.D6D(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(16-18)gaC>gaT		TGFB-induced factor homeobox 2-like, X-linked		C		0,3832		0,0,1631,570	45	53	51		18	-2.4	0	X		51	1,6727		0,1,2427,1872	no	coding-synonymous	TGIF2LX	NM_138960.3		0,1,4058,2442	TT,TC,CC,C		0.0149,0.0,0.0095		6/242	89177102	1,10559	2201	4300	6501	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177102C>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.18C>T	X.37:g.89177102C>T						TGIF2LX_ENST00000283891.5_Silent_p.D6D	p.D6D			Q8IUE1	TF2LX_HUMAN			1	148	+			6					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.18C>T	CCDS14459.1																																																																																				0.517	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		34	47	0	0	0	1	0	34	47					T	89177102	C	T	89177102	2	4	317	1	0	0	0	0	0	0	0	1	15824	535	19	1		1	TGIF2LX	23	89177102	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	41869956	89177102	66093458	72	32050											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960229	117960229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgcgtagagccaggaagcGaaaacacacaatccgctgtt	11	10	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:117960229G>A	ENST00000310164.2	+	4	1529	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	341					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCCAGGAAGCGAAAACACACA	0.493																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(1021-1023)cGa>cAa		zinc finger, CCHC domain containing 12							124	95	105					X																	117960229		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960229G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1022G>A	X.37:g.117960229G>A	ENSP00000308921:p.Arg341Gln						p.R341Q	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1529	+			341					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1022G>A	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788422	0.49997	.	.	ENSG00000174460	ENST00000310164	T	0.76839	-1.05	3.3	3.3	0.37823	Zinc finger, CCHC retroviral-type (1);	.	.	.	.	D	0.84097	0.5397	M	0.65498	2.005	0.28260	N	0.924865	D	0.89917	1.0	D	0.81914	0.995	T	0.73789	-0.3872	9	0.32370	T	0.25	-2.6631	9.1783	0.37125	0.0:0.0:1.0:0.0	.	341	Q6PEW1	ZCH12_HUMAN	Q	341	ENSP00000308921:R341Q	ENSP00000308921:R341Q	R	+	2	0	ZCCHC12	117844257	0.996000	0.38824	0.931000	0.37212	0.608000	0.37181	3.765000	0.55272	1.901000	0.55032	0.600000	0.82982	CGA		0.493	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		62	90	0	0	0	1	0	62	90					A	117960229	G	A	117960229	3	1	317	1	0	0	0	0	1	0	0	0	17578	1058	37	1	1024	1	ZCCHC12	23	117960229	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	28783127	117960229	37310331	73	32051											
MAP7D3	79649	broad.mit.edu	37	chrX	135313709	135313709	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttgacaaacctttggAgcgtctctcgcttttgcctt	9	12	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:135313709A>G	ENST00000316077.9	-	8	1627	c.1407T>C	c.(1405-1407)gcT>gcC	p.A469A	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Silent_p.A451A|MAP7D3_ENST00000370661.1_Silent_p.A434A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	469					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)					AAACCTTTGGAGCGTCTCTCG	0.423																																						ENST00000316077.9																			0				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						c.(1405-1407)gcT>gcC		MAP7 domain containing 3							128	113	118					X																	135313709		1881	4107	5988	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135313709A>G	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.1407T>C	X.37:g.135313709A>G						MAP7D3_ENST00000370661.1_Silent_p.A434A|MAP7D3_ENST00000370663.5_Silent_p.A451A	p.A469A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1627	-	Acute lymphoblastic leukemia(192;0.000127)		469					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1407T>C	CCDS44004.1																																																																																				0.423	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			65	91	0	0	0	1	0	65	91					G	135313709	A	G	135313709	2	3	317	1	0	0	0	0	0	0	0	1	9269	291	11	3		3	MAP7D3	23	135313709	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	17353480	135313709	19956851	74	32052											
MAMLD1	10046	broad.mit.edu	37	chrX	149638772	149638772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcccaccagctgaaggcGttggcagccagcaagcaggg	14	14	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:149638772G>A	ENST00000370401.2	+	4	1237	c.927G>A	c.(925-927)gcG>gcA	p.A309A	MAMLD1_ENST00000426613.2_Silent_p.A284A|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.A309A|MAMLD1_ENST00000432680.2_Silent_p.A284A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	309					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632																																						ENST00000370401.2																			2	Substitution - coding silent(2)	p.A236A(1)|p.A309A(1)	large_intestine(2)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(925-927)gcG>gcA		mastermind-like domain containing 1							80	57	65					X																	149638772		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638772G>A	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.927G>A	X.37:g.149638772G>A						MAMLD1_ENST00000432680.2_Silent_p.A284A|MAMLD1_ENST00000262858.5_Silent_p.A309A|MAMLD1_ENST00000426613.2_Silent_p.A284A	p.A309A			Q13495	MAMD1_HUMAN			4	1237	+	Acute lymphoblastic leukemia(192;6.56e-05)		309					B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.927G>A	CCDS14693.2																																																																																				0.632	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		59	78	0	0	0	1	0	59	78					A	149638772	G	A	149638772	2	1	317	1	0	0	0	0	0	0	0	1	9208	1132	40	1		1	MAMLD1	23	149638772	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	14325063	149638772	5631788	75	32053											
BGN	633	broad.mit.edu	37	chrX	152773771	152773771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttctgtcccatgggcttCggggtgaagcgggcctacta	14	11	1	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:152773771C>T	ENST00000331595.4	+	8	1161	c.975C>T	c.(973-975)ttC>ttT	p.F325F	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	325					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|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)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGGCTTCGGGGTGAAGC	0.617																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(973-975)ttC>ttT		biglycan							174	147	156					X																	152773771		2203	4300	6503	SO:0001819	synonymous_variant	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152773771C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.975C>T	X.37:g.152773771C>T						BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.F264F	p.F325F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			8	1161	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		325					D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	c.975C>T	CCDS14721.1																																																																																				0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		164	164	0	0	0	1	0	164	164					T	152773771	C	T	152773771	2	4	317	1	0	0	0	0	0	0	0	1	1418	883	31	1		1	BGN	23	152773771	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	3134999	152773771	2496789	76	32054											
THRAP3	9967	broad.mit.edu	37	chr1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagttgaatcttctaagcGcaagtctgcaaaggagaaaa	10	8	3	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(520-522)cGc>cAc		thyroid hormone receptor associated protein 3							188	199	195					1																	36752352		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752352G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.521G>A	1.37:g.36752352G>A	ENSP00000346634:p.Arg174His					THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	745	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	174			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.521G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136105	0.37728	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14022	2.54;2.54	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.23289	0.0563	L	0.59436	1.845	0.42438	D	0.992706	P	0.51791	0.948	P	0.47015	0.534	T	0.00360	-1.1790	10	0.46703	T	0.11	-1.2594	18.8828	0.92364	0.0:0.0:1.0:0.0	.	174	Q9Y2W1	TR150_HUMAN	H	174	ENSP00000346634:R174H;ENSP00000433825:R174H	ENSP00000346634:R174H	R	+	2	0	THRAP3	36524939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.561000	0.53770	2.711000	0.92665	0.655000	0.94253	CGC		0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	394	0	0	0	1	0	5	394					A	36752352	G	A	36752352	3	1	318	1	0	0	0	0	1	0	0	0	15871	1087	38	1	527	1	THRAP3	1	36752352	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		36752352	212498269	1	32055											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G													ctggagccttcgggcatggcINSgggctttggggggcattcgc							TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					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						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		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.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		8	144						8	144	---	---	---	---	G	74757186	-	G	74757185	7	5	318	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		74757185	168442188	2	32056											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	53	0	0	0	1	0	21	53					T	209113112	C	T	209113112	3	4	318	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	134355927	209113112	34086261	3	32057											
POLQ	10721	broad.mit.edu	37	chr3	121206326	121206326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttctgaactgcttgaggCtggagttaactgtaatccat	9	8	1	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr3:121206326C>T	ENST00000264233.5	-	16	5580	c.5452G>A	c.(5452-5454)Gcc>Acc	p.A1818T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1818					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)		CTGCTTGAGGCTGGAGTTAAC	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				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						c.(5452-5454)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							146	141	143					3																	121206326		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206326C>T	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.5452G>A	3.37:g.121206326C>T	ENSP00000264233:p.Ala1818Thr						p.A1818T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5580	-			1818					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5452G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140389	0.37825	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51574	0.7	6.04	4.16	0.48862	.	0.702435	0.14446	N	0.319060	T	0.39036	0.1063	M	0.63428	1.95	0.19775	N	0.99995	P;B	0.43094	0.799;0.112	B;B	0.35931	0.214;0.053	T	0.20672	-1.0268	10	0.27082	T	0.32	.	7.1223	0.25453	0.2082:0.7077:0.0:0.0841	.	1818;990	O75417;O75417-2	DPOLQ_HUMAN;.	T	1441;1818;1954	ENSP00000264233:A1818T	ENSP00000264233:A1818T	A	-	1	0	POLQ	122689016	0.000000	0.05858	0.996000	0.52242	0.993000	0.82548	-0.456000	0.06754	0.750000	0.32877	0.563000	0.77884	GCC		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		5	114	0	0	0	1	0	5	114					T	121206326	C	T	121206326	3	4	318	1	0	0	0	0	1	0	0	0	12208	797	28	2	2380	2	POLQ	3	121206326	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		121206326	76816104	4	32058											
FBN2	2201	broad.mit.edu	37	chr5	127640762	127640762	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgttaggaatttctaaaCattcattgcgatctaaaaca	5	7	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:127640762C>A	ENST00000508053.1	-	51	6661	c.5687G>T	c.(5686-5688)tGt>tTt	p.C1896F	FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F			P35556	FBN2_HUMAN	fibrillin 2	1896	EGF-like 31; 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)		AATTTCTAAACATTCATTGCG	0.353																																						ENST00000508053.1																			0				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						c.(5686-5688)tGt>tTt		fibrillin 2							72	61	64					5																	127640762		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127640762C>A	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.5687G>T	5.37:g.127640762C>A	ENSP00000424571:p.Cys1896Phe					FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F	p.C1896F			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	51	6661	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1896			EGF-like 31; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5687G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303438	0.81136	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99445	-5.91;-5.91	5.03	5.03	0.67393	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.99822	0.9921	H	0.99825	4.815	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	D	0.96431	0.9319	10	0.87932	D	0	.	18.5696	0.91130	0.0:1.0:0.0:0.0	.	1896	P35556	FBN2_HUMAN	F	1896	ENSP00000262464:C1896F;ENSP00000424571:C1896F	ENSP00000262464:C1896F	C	-	2	0	FBN2	127668661	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.609000	0.82925	2.619000	0.88677	0.467000	0.42956	TGT		0.353	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		3	32	1	0	0.115264	1	0.117665	3	32					A	127640762	C	A	127640762	3	1	318	1	0	0	0	0	1	0	0	0	5703	478	17	4	3135	4	FBN2	5	127640762	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		127640762	53274498	5	32059											
TGFBI	7045	broad.mit.edu	37	chr5	135382574	135382574	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcagcaatgtcaacaTtgagctgctcaatgccctcc	8	14	3	1	rs182124708		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:135382574T>C	ENST00000442011.2	+	5	655	c.494T>C	c.(493-495)aTt>aCt	p.I165T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	165	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGTCAACATTGAGCTGCTC	0.537													T|||	1	0.000199681	0.0	0.0	5008	,	,		20899	0.0		0.001	False		,,,				2504	0.0					ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(493-495)aTt>aCt		transforming growth factor, beta-induced, 68kDa		T	THR/ILE	0,4166		0,0,2083	52	53	53		494	5.8	1	5		53	1,8431		0,1,4215	yes	missense	TGFBI	NM_000358.2	89	0,1,6298	CC,CT,TT		0.0119,0.0,0.0079	possibly-damaging	165/684	135382574	1,12597	2083	4216	6299	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135382574T>C	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.494T>C	5.37:g.135382574T>C	ENSP00000416330:p.Ile165Thr					TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	655	+			165			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.494T>C	CCDS47266.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	25.4	4.631181	0.87660	0.0	1.19E-4	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.90133	-2.62;-2.62	5.83	5.83	0.93111	FAS1 domain (5);	0.042843	0.85682	D	0.000000	D	0.89469	0.6724	L	0.28400	0.85	0.80722	D	1	P	0.49783	0.928	P	0.51170	0.661	D	0.89590	0.3827	10	0.44086	T	0.13	-14.6662	16.2025	0.82095	0.0:0.0:0.0:1.0	.	165	Q15582	BGH3_HUMAN	T	165	ENSP00000416330:I165T;ENSP00000306306:I165T	ENSP00000306306:I165T	I	+	2	0	TGFBI	135410473	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.186000	0.72026	2.231000	0.72958	0.459000	0.35465	ATT		0.537	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			3	34	0	0	0	1	0	3	34					C	135382574	T	C	135382574	3	2	318	1	0	0	0	0	1	0	0	0	15817	1493	52	3	512	3	TGFBI	5	135382574	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	7741812	135382574	45532686	6	32060											
TRIM41	90933	broad.mit.edu	37	chr5	180661549	180661549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcgtgggcaccaacgGcaaacgctatcaggcccaga	14	12	1	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:180661549G>A	ENST00000315073.5	+	6	2377	c.1667G>A	c.(1666-1668)gGc>gAc	p.G556D	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	556	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)			GGCACCAACGGCAAACGCTAT	0.657																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1666-1668)gGc>gAc		tripartite motif containing 41							72	75	74					5																	180661549		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180661549G>A	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.1667G>A	5.37:g.180661549G>A	ENSP00000320869:p.Gly556Asp					TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	p.G556D	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	2377	+	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)	556			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.1667G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626993	0.28978	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.61158	0.13	4.87	4.0	0.46444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000013	T	0.47469	0.1447	L	0.31804	0.96	0.38827	D	0.95576	B	0.33883	0.43	B	0.39771	0.309	T	0.51980	-0.8636	10	0.49607	T	0.09	.	9.1647	0.37043	0.0996:0.0:0.9004:0.0	.	556	Q8WV44	TRI41_HUMAN	D	556;241	ENSP00000320869:G556D	ENSP00000320869:G556D	G	+	2	0	TRIM41	180594155	1.000000	0.71417	0.970000	0.41538	0.014000	0.08584	4.931000	0.63469	1.410000	0.46936	0.455000	0.32223	GGC		0.657	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		4	151	0	0	0	1	0	4	151					A	180661549	G	A	180661549	3	1	318	1	0	0	0	0	1	0	0	0	16513	1203	42	2	1689	2	TRIM41	5	180661549	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	45278975	180661549	253711	7	32061											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	223						7	223	---	---	---	---	A	31939830	-	A	31939829	7	5	318	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		31939829	139175238	8	32062											
LIMK1	3984	broad.mit.edu	37	chr7	73520287	73520287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatcaatggcacgcccAtccgaaatgtgcccctggac	10	13	1	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:73520287A>G	ENST00000336180.2	+	6	742	c.691A>G	c.(691-693)Atc>Gtc	p.I231V	LIMK1_ENST00000418310.1_Missense_Mutation_p.I261V|LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	231	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGGCACGCCCATCCGAAATGT	0.607																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(781-783)Atc>Gtc		LIM domain kinase 1							115	98	104					7																	73520287		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73520287A>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.691A>G	7.37:g.73520287A>G	ENSP00000336740:p.Ile231Val					LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V|LIMK1_ENST00000336180.2_Missense_Mutation_p.I231V	p.I261V			P53667	LIMK1_HUMAN			6	883	+		Lung NSC(55;0.137)	231					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.781A>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886373	0.17540	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.26810	1.71;1.71;1.71	4.97	4.97	0.65823	PDZ/DHR/GLGF (4);	0.050913	0.85682	D	0.000000	T	0.11537	0.0281	N	0.05012	-0.13	0.58432	D	0.999995	B;B;B	0.28026	0.198;0.069;0.012	B;B;B	0.30316	0.114;0.098;0.035	T	0.08911	-1.0699	10	0.02654	T	1	-28.3625	12.6805	0.56918	1.0:0.0:0.0:0.0	.	126;197;231	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	V	261;231;231;197	ENSP00000409717:I261V;ENSP00000336740:I231V;ENSP00000444452:I197V	ENSP00000336740:I231V	I	+	1	0	LIMK1	73158223	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.945000	0.75947	1.898000	0.54952	0.524000	0.50904	ATC		0.607	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		42	51	0	0	0	1	0	42	51					G	73520287	A	G	73520287	3	3	318	1	0	0	0	0	1	0	0	0	8801	217	8	3	713	3	LIMK1	7	73520287	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		73520287	85618376	9	32063											
DPP6	1804	broad.mit.edu	37	chr7	154002608	154002608	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaaggagccaagcgcttCggggaaatccgtgcagcagc	14	12	0	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:154002608C>T	ENST00000377770.3	+	2	384				DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000332007.3_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						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)			CCAAGCGCTTCGGGGAAATCC	0.607																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000332007.3																			0				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						c.(28-30)tCg>tTg		dipeptidyl-peptidase 6							52	58	56					7																	154002608		1568	3579	5147	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154002608C>T	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.244-140691C>T	7.37:g.154002608C>T						DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000406326.1_Intron	p.S10L			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		1	414	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	C	15.02	2.709881	0.48517	.	.	ENSG00000130226	ENST00000332007;ENST00000427557	T;T	0.16457	2.37;2.34	5.01	5.01	0.66863	.	.	.	.	.	T	0.13884	0.0336	.	.	.	0.23396	N	0.997768	B;P;B	0.39022	0.002;0.655;0.104	B;B;B	0.31751	0.001;0.135;0.024	T	0.14035	-1.0487	8	0.35671	T	0.21	.	17.3233	0.87241	0.0:1.0:0.0:0.0	.	10;10;10	E9PDL2;B7Z1K3;P42658-2	.;.;.	L	10	ENSP00000328226:S10L;ENSP00000397303:S10L	ENSP00000328226:S10L	S	+	2	0	DPP6	153633541	0.203000	0.23435	0.045000	0.18777	0.943000	0.58893	3.593000	0.54001	2.314000	0.78098	0.462000	0.41574	TCG		0.607	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		3	16	0	0	0	1	0	3	16					T	154002608	C	T	154002608	1	4	318	0	1	0	0	0	0	0	0	0	4730	893	31	1		1	DPP6	7	154002608	Intron	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	80482321	154002608	5136055	10	32064											
UBE3C	9690	broad.mit.edu	37	chr7	156932027	156932027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttggcggcgcgagcAggaaggtgagggccgggctg	20	10	0	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:156932027A>G	ENST00000348165.5	+	1	421	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	21	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGGCGCGAGCAGGAAGGTGAG	0.751																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(61-63)Agg>Ggg		ubiquitin protein ligase E3C							10	11	10					7																	156932027		2158	4234	6392	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156932027A>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.61A>G	7.37:g.156932027A>G	ENSP00000309198:p.Arg21Gly					UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	1	421	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	21			Cis-determinant of acceptor ubiquitin- binding.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.61A>G	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	a	10.07	1.249972	0.22880	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.44482	0.92	3.92	-0.324	0.12706	.	0.113441	0.64402	U	0.000015	T	0.24275	0.0588	N	0.22421	0.69	0.42647	D	0.993436	B;B;B	0.19817	0.001;0.0;0.039	B;B;B	0.20955	0.002;0.0;0.032	T	0.07539	-1.0767	10	0.21014	T	0.42	.	9.8448	0.41021	0.4236:0.5764:0.0:0.0	.	21;21;21	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	G	21	ENSP00000309198:R21G	ENSP00000309198:R21G	R	+	1	2	UBE3C	156624788	0.988000	0.35896	0.874000	0.34290	0.274000	0.26718	1.036000	0.30228	-0.275000	0.09219	-0.633000	0.03987	AGG		0.751	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		4	45	0	0	0	1	0	4	45					G	156932027	A	G	156932027	3	3	318	1	0	0	0	0	1	0	0	0	16878	179	7	3	63	3	UBE3C	7	156932027	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	2929419	156932027	2206636	11	32065											
TNKS	8658	broad.mit.edu	37	chr8	9588459	9588459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggccggcattccacgccCttacacttcgcagcaggcta	11	15	0	0	rs372527063		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:9588459C>T	ENST00000310430.6	+	14	2087	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	TNKS_ENST00000518281.1_Silent_p.P450P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	687					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)		ATTCCACGCCCTTACACTTCG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13627	0.0		0.0	False		,,,				2504	0.0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2059-2061)ccC>ccT		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		C		2,4404	4.2+/-10.8	0,2,2201	123	109	114		2061	0.1	0	8		114	0,8600		0,0,4300	no	coding-synonymous	TNKS	NM_003747.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		687/1328	9588459	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9588459C>T	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.2061C>T	8.37:g.9588459C>T						TNKS_ENST00000518281.1_Silent_p.P450P	p.P687P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2087	+			687					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2061C>T	CCDS5974.1																																																																																				0.498	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		31	53	0	0	0	1	0	31	53					T	9588459	C	T	9588459	2	4	318	1	0	0	0	0	0	0	0	1	16316	668	24	2		2	TNKS	8	9588459	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		9588459	136775563	12	32066											
PDGFRL	5157	broad.mit.edu	37	chr8	17447012	17447012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaagaacaagcgtccaAaagaaccaggagagaataga	9	9	0	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:17447012A>G	ENST00000541323.1	+	3	536	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E|PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	31					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAAGCGTCCAAAAGAACCAGG	0.428																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(91-93)Aaa>Gaa		platelet-derived growth factor receptor-like							146	149	148					8																	17447012		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447012A>G	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.91A>G	8.37:g.17447012A>G	ENSP00000444211:p.Lys31Glu					PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E|PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E	p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	536	+			31					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.91A>G	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043159	0.75732	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.49432	0.78;0.78;0.78	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.70275	2.135	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.70605	-0.4826	10	0.62326	D	0.03	-10.7308	14.3118	0.66422	1.0:0.0:0.0:0.0	.	31	Q15198	PGFRL_HUMAN	E	31	ENSP00000251630:K31E;ENSP00000444211:K31E;ENSP00000381149:K31E	ENSP00000251630:K31E	K	+	1	0	PDGFRL	17491272	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.435000	0.90297	2.026000	0.59711	0.482000	0.46254	AAA		0.428	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		101	138	0	0	0	1	0	101	138					G	17447012	A	G	17447012	3	3	318	1	0	0	0	0	1	0	0	0	11663	15	1	3	97	3	PDGFRL	8	17447012	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	7858553	17447012	128917010	13	32067											
ACER2	340485	broad.mit.edu	37	chr9	19435024	19435024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcctgccatcaacaacAtctctctgatgaccctggga	7	14	4	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:19435024A>G	ENST00000340967.2	+	4	471	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	149					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CATCAACAACATCTCTCTGAT	0.537																																						ENST00000340967.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						c.(445-447)Atc>Gtc		alkaline ceramidase 2							275	212	233					9																	19435024		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19435024A>G	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"Alkaline ceramidase"	23675	protein-coding gene	gene with protein product		613492	"N-acylsphingosine amidohydrolase 3-like"	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.445A>G	9.37:g.19435024A>G	ENSP00000342609:p.Ile149Val					ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	p.I149V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN			4	471	+			149					A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.445A>G	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.838061	0.32513	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.39787	1.06;1.06	5.95	5.95	0.96441	.	0.112695	0.64402	D	0.000008	T	0.29783	0.0744	N	0.19112	0.55	0.47994	D	0.999565	B	0.06786	0.001	B	0.08055	0.003	T	0.09314	-1.0680	9	.	.	.	.	16.0937	0.81106	1.0:0.0:0.0:0.0	.	149	Q5QJU3	ACER2_HUMAN	V	100;149	ENSP00000369735:I100V;ENSP00000342609:I149V	.	I	+	1	0	ACER2	19425024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	2.281000	0.76405	0.528000	0.53228	ATC		0.537	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		16	107	0	0	0	1	0	16	107					G	19435024	A	G	19435024	3	3	318	1	0	0	0	0	1	0	0	0	139	217	8	3	459	3	ACER2	9	19435024	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		19435024	121778407	14	32068											
KCNT1	57582	broad.mit.edu	37	chr9	138676392	138676392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccagtccttcgtgaaGgactacatgatcaccatcac	8	14	2	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:138676392G>A	ENST00000263604.3	+	26	2898	c.2898G>A	c.(2896-2898)aaG>aaA	p.K966K	KCNT1_ENST00000491806.2_Silent_p.K952K|KCNT1_ENST00000298480.5_Silent_p.K985K|KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000490355.2_Silent_p.K964K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTGAAGGACTACATGA	0.697																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2953-2955)aaG>aaA		potassium channel, subfamily T, member 1							12	13	12					9																	138676392		2167	4280	6447	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138676392G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2898G>A	9.37:g.138676392G>A						KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000263604.3_Silent_p.K966K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000490355.2_Silent_p.K964K|KCNT1_ENST00000491806.2_Silent_p.K952K	p.K985K			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	26	3029	+		Myeloproliferative disorder(178;0.0821)	985					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2955G>A																																																																																					0.697	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		10	6	0	0	0	1	0	10	6					A	138676392	G	A	138676392	2	1	318	1	0	0	0	0	0	0	0	1	8091	991	35	2		2	KCNT1	9	138676392	Silent	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	119241368	138676392	2537039	15	32069											
LRIT1	26103	broad.mit.edu	37	chr10	86001154	86001154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggcctgggggggccaCgcaagggccaagagccagag	18	14	0	2	rs202166415		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:86001154C>T	ENST00000372105.3	-	1	63	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	14						integral component of endoplasmic reticulum membrane (GO:0030176)		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGGGCCACGCAAGGGCCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16406	0.0		0.001	False		,,,				2504	0.0					ENST00000372105.3																			1	Substitution - coding silent(1)	p.A14A(1)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(40-42)gcG>gcA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1		C		1,4397		0,1,2198	18	20	19		42	2.6	0	10		19	1,8591		0,1,4295	no	coding-synonymous	LRIT1	NM_015613.2		0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154		14/624	86001154	2,12988	2199	4296	6495	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:86001154C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.42G>A	10.37:g.86001154C>T							p.A14A	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			1	63	-			14					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.42G>A	CCDS7373.1																																																																																				0.672	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		16	22	0	0	0	1	0	16	22					T	86001154	C	T	86001154	2	4	318	1	0	0	0	0	0	0	0	1	8947	523	19	1		1	LRIT1	10	86001154	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		86001154	49533593	16	32070											
NAT10	55226	broad.mit.edu	37	chr11	34139764	34139764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgtaagaagtgtctcGtcattgatgaccagctcaac	8	11	4	3			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:34139764G>A	ENST00000257829.3	+	7	801	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	NAT10_ENST00000531159.2_Missense_Mutation_p.V127I|NAT10_ENST00000527971.1_Missense_Mutation_p.V199I	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	199						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)				GAAGTGTCTCGTCATTGATGA	0.532																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(595-597)Gtc>Atc		N-acetyltransferase 10 (GCN5-related)							107	98	101					11																	34139764		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34139764G>A	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.595G>A	11.37:g.34139764G>A	ENSP00000257829:p.Val199Ile					NAT10_ENST00000527971.1_Missense_Mutation_p.V199I|NAT10_ENST00000531159.2_Missense_Mutation_p.V127I	p.V199I	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			7	801	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	199					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.595G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696939	0.88830	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	T;T	0.35789	1.29;1.3	4.92	4.92	0.64577	Domain of unknown function DUF1726 (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.81112	2.525	0.80722	D	1	P	0.45240	0.854	P	0.45856	0.495	T	0.50136	-0.8863	10	0.21540	T	0.41	-24.1795	18.1377	0.89624	0.0:0.0:1.0:0.0	.	199	Q9H0A0	NAT10_HUMAN	I	199;127;199	ENSP00000257829:V199I;ENSP00000433011:V127I	ENSP00000257829:V199I	V	+	1	0	NAT10	34096340	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	9.591000	0.98241	2.274000	0.75844	0.484000	0.47621	GTC		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		43	49	0	0	0	1	0	43	49					A	34139764	G	A	34139764	3	1	318	1	0	0	0	0	1	0	0	0	10174	1145	40	1	617	1	NAT10	11	34139764	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		34139764	100866752	17	32071											
OR5M8	219484	broad.mit.edu	37	chr11	56258374	56258374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtaggtccacatggtcTccatcaggccagtgagcgct	13	11	2	1	rs142719978		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:56258374T>C	ENST00000327216.2	-	1	497	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	158						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)					CCACATGGTCTCCATCAGGCC	0.512																																						ENST00000327216.2																			0				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						c.(472-474)gAg>gGg		olfactory receptor, family 5, subfamily M, member 8							86	83	84					11																	56258374		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258374T>C	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.473A>G	11.37:g.56258374T>C	ENSP00000323354:p.Glu158Gly						p.E158G	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	497	-	Esophageal squamous(21;0.00352)		158					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.473A>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766526	0.49574	.	.	ENSG00000181371	ENST00000327216	T	0.00130	8.69	4.35	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001099	T	0.00144	0.0004	L	0.42744	1.35	0.21553	N	0.999643	P	0.36837	0.571	B	0.42959	0.403	T	0.24476	-1.0159	10	0.87932	D	0	-19.107	4.5709	0.12208	0.1957:0.0:0.203:0.6014	.	158	Q8NGP6	OR5M8_HUMAN	G	158	ENSP00000323354:E158G	ENSP00000323354:E158G	E	-	2	0	OR5M8	56014950	0.000000	0.05858	0.999000	0.59377	0.910000	0.53928	0.048000	0.14078	0.621000	0.30232	0.514000	0.50259	GAG		0.512	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		48	75	0	0	0	1	0	48	75					C	56258374	T	C	56258374	3	2	318	1	0	0	0	0	1	0	0	0	11176	1551	54	3	466	3	OR5M8	11	56258374	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	22118610	56258374	78748142	18	32072											
KRT82	3888	broad.mit.edu	37	chr12	52795111	52795111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattctcaacacagggacGcagggagagctcctcttcgt	10	13	3	1	rs368818089		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr12:52795111G>A	ENST00000257974.2	-	3	720	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	215	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ACACAGGGACGCAGGGAGAGC	0.532																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(643-645)Cgt>Tgt		keratin 82		G	CYS/ARG	0,4406		0,0,2203	99	95	96		643	1.7	0.7	12		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT82	NM_033033.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/514	52795111	1,13005	2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52795111G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.643C>T	12.37:g.52795111G>A	ENSP00000257974:p.Arg215Cys					RP3-416H24.4_ENST00000547174.1_RNA	p.R215C	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	3	720	-			215			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.643C>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447379	0.43429	0.0	1.16E-4	ENSG00000161850	ENST00000257974	D	0.90069	-2.61	4.89	1.73	0.24493	Filament (1);	0.000000	0.47455	D	0.000224	D	0.94440	0.8211	M	0.89414	3.03	0.44611	D	0.997586	D	0.89917	1.0	D	0.91635	0.999	D	0.94446	0.7663	10	0.87932	D	0	.	12.6514	0.56764	0.0:0.0:0.5798:0.4202	.	215	Q9NSB4	KRT82_HUMAN	C	215	ENSP00000257974:R215C	ENSP00000257974:R215C	R	-	1	0	KRT82	51081378	0.981000	0.34729	0.693000	0.30195	0.130000	0.20726	1.522000	0.35921	0.543000	0.28864	0.462000	0.41574	CGT		0.532	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		4	82	0	0	0	1	0	4	82					A	52795111	G	A	52795111	3	1	318	1	0	0	0	0	1	0	0	0	8496	1087	38	1	926	1	KRT82	12	52795111	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		52795111	81056784	19	32073											
OR11H6	122748	broad.mit.edu	37	chr14	20692401	20692401	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctatccagtccctaTtgttcttatctcccaacttc	3	15	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr14:20692401T>C	ENST00000315519.2	+	1	611	c.533T>C	c.(532-534)aTt>aCt	p.I178T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	178						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)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCAGTCCCTATTGTTCTTATC	0.502																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(532-534)aTt>aCt		olfactory receptor, family 11, subfamily H, member 6							96	94	94					14																	20692401		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692401T>C		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.533T>C	14.37:g.20692401T>C	ENSP00000319071:p.Ile178Thr						p.I178T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	611	+	all_cancers(95;0.00108)		178					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.533T>C	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	1.147	-0.647930	0.03506	.	.	ENSG00000176219	ENST00000315519	T	0.00020	9.05	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.120506	0.37095	N	0.002246	T	0.00073	0.0002	N	0.05050	-0.12	0.09310	N	1	B	0.20459	0.045	B	0.26517	0.07	T	0.14062	-1.0486	10	0.02654	T	1	.	10.7187	0.46028	0.0:0.0:0.0:1.0	.	178	Q8NGC7	O11H6_HUMAN	T	178	ENSP00000319071:I178T	ENSP00000319071:I178T	I	+	2	0	OR11H6	19762241	0.000000	0.05858	0.968000	0.41197	0.226000	0.24999	0.430000	0.21428	2.026000	0.59711	0.240000	0.17902	ATT		0.502	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			21	19	0	0	0	1	0	21	19					C	20692401	T	C	20692401	3	2	318	1	0	0	0	0	1	0	0	0	10929	1493	52	3	535	3	OR11H6	14	20692401	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		20692401	86657139	20	32074											
NIPA1	123606	broad.mit.edu	37	chr15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-													ggctacgcgccccctccccgGccgccgccgccgccgccgcc					rs531550505	byFrequency	TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_ENST00000538684.1_5'Flank|NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818														310	0.061901	0.0666	0.0519	5008	,	,		2562	0.0139		0.1014	False		,,,				2504	0.0716					ENST00000337435.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(43-48)gcc>gc		non imprinted in Prader-Willi/Angelman syndrome 1																																				SO:0001651	inframe_deletion	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23086365_23086367delGCC	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.45_47delGGC	15.37:g.23086374_23086376delGCC	ENSP00000337452:p.Ala16del					NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	p.AA15del	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	1	69_71	-		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)	15					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	In_Frame_Del	DEL	ENST00000337435.4	37	c.45_47delGGC	CCDS10011.1																																																																																				0.818	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		2	4						2	4	---	---	---	---	-	23086367	GCC	-	23086365	7	5	318	1	0	1	0	1	0	0	0	0	10422	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-HT-A5RB-01A-11D-A289-08		23086365	79445027	21	32075											
TMC3	342125	broad.mit.edu	37	chr15	81641895	81641895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcatggtgacgagggagAccaccacactgacctgctga	11	12	1	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:81641895A>G	ENST00000359440.5	-	11	1232	c.1097T>C	c.(1096-1098)gTc>gCc	p.V366A	TMC3_ENST00000558726.1_Missense_Mutation_p.V367A|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_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						GACGAGGGAGACCACCACACT	0.552																																						ENST00000558726.1																			0				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						c.(1099-1101)gTc>gCc		transmembrane channel-like 3							98	99	99					15																	81641895		2158	4265	6423	SO:0001583	missense	342125					integral to membrane		g.chr15:81641895A>G	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.1097T>C	15.37:g.81641895A>G	ENSP00000352413:p.Val366Ala					RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V366A	p.V367A			Q7Z5M5	TMC3_HUMAN			11	1235	-			366						Missense_Mutation	SNP	ENST00000359440.5	37	c.1100T>C	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970864	0.74246	.	.	ENSG00000188869	ENST00000359440	D	0.85861	-2.04	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	M	0.64404	1.975	0.80722	D	1	D;P	0.71674	0.998;0.76	D;P	0.65987	0.94;0.603	D	0.91478	0.5202	10	0.87932	D	0	-32.2385	14.7737	0.69699	1.0:0.0:0.0:0.0	.	366;366	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	A	366	ENSP00000352413:V366A	ENSP00000352413:V366A	V	-	2	0	TMC3	79428950	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	8.897000	0.92532	1.884000	0.54569	0.533000	0.62120	GTC		0.552	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		8	14	0	0	0	1	0	8	14					G	81641895	A	G	81641895	3	3	318	1	0	0	0	0	1	0	0	0	15983	275	10	3	2253	3	TMC3	15	81641895	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	58555530	81641895	20889497	22	32076											
BTBD12	84464	broad.mit.edu	37	chr16	3640627	3640627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcgccactttgttcctcGggctcacttgttatttggga	10	11	1	0	rs533668167		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr16:3640627G>A	ENST00000294008.3	-	12	3652	c.3012C>T	c.(3010-3012)ccC>ccT	p.P1004P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1004	Interaction with PLK1 and TERF2-TERF2IP.				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						TTTGTTCCTCGGGCTCACTTG	0.577								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		17751	0.0		0.001	False		,,,				2504	0.0					ENST00000294008.3																			0				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						c.(3010-3012)ccC>ccT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							68	69	68					16																	3640627		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640627G>A	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.3012C>T	16.37:g.3640627G>A							p.P1004P	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3652	-			1004			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3012C>T	CCDS10506.2																																																																																				0.577	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		13	100	0	0	0	1	0	13	100					A	3640627	G	A	3640627	2	1	318	1	0	0	0	0	0	0	0	1	1540	1103	39	1		1	BTBD12	16	3640627	Silent	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		3640627	86714126	23	32077											
NFAT5	10725	broad.mit.edu	37	chr16	69727267	69727267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaagaagcattttttgCagcaccgaactcaatttctc	6	12	2	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr16:69727267C>T	ENST00000354436.2	+	12	3803	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	NFAT5_ENST00000432919.1_Missense_Mutation_p.A1180V|NFAT5_ENST00000567239.1_Missense_Mutation_p.A1179V|NFAT5_ENST00000393742.2_Missense_Mutation_p.A1086V|NFAT5_ENST00000566899.1_Missense_Mutation_p.A1086V|NFAT5_ENST00000349945.1_Missense_Mutation_p.A1086V	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1162					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						GCATTTTTTGCAGCACCGAAC	0.428																																						ENST00000349945.1																			0				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						c.(3256-3258)gCa>gTa		nuclear factor of activated T-cells 5, tonicity-responsive							137	129	131					16																	69727267		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727267C>T	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.3485C>T	16.37:g.69727267C>T	ENSP00000346420:p.Ala1162Val					NFAT5_ENST00000393742.2_Missense_Mutation_p.A1086V|NFAT5_ENST00000566899.1_Missense_Mutation_p.A1086V|NFAT5_ENST00000354436.2_Missense_Mutation_p.A1162V|NFAT5_ENST00000432919.1_Missense_Mutation_p.A1180V|NFAT5_ENST00000567239.1_Missense_Mutation_p.A1179V	p.A1086V	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4809	+			1162					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3257C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501591	0.44455	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.59	5.59	0.84812	.	0.254317	0.37053	N	0.002272	T	0.37183	0.0994	L	0.36672	1.1	0.37395	D	0.912595	B;B;B	0.20052	0.041;0.041;0.041	B;B;B	0.16289	0.015;0.015;0.015	T	0.20273	-1.0280	10	0.27082	T	0.32	-3.3624	19.6131	0.95618	0.0:1.0:0.0:0.0	.	1179;1162;1180	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	V	1180;1179;1086;1162;1086	ENSP00000396538:A1180V;ENSP00000338806:A1086V;ENSP00000346420:A1162V;ENSP00000377343:A1086V	ENSP00000338806:A1086V	A	+	2	0	NFAT5	68284768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.573000	0.67417	2.638000	0.89438	0.650000	0.86243	GCA		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	171	0	0	0	1	0	4	171					T	69727267	C	T	69727267	3	4	318	1	0	0	0	0	1	0	0	0	10360	710	25	2	3589	2	NFAT5	16	69727267	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	66086640	69727267	20627486	24	32078											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	4	12	2	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:7578235T>G	ENST00000269305.4	-	6	803	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000420246.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(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						c.(613-615)tAt>tCt	Other conserved DNA damage response genes	tumor protein p53							136	121	126					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>G	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.614A>C	17.37:g.7578235T>G	ENSP00000269305:p.Tyr205Ser	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)				TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron	p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	746	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.614A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897640	0.72639	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.33	0.51752	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	0.99843	0.9928	M	0.92738	3.34	0.58432	D	0.999999	P;D;P;P;D;P;P	0.58268	0.766;0.982;0.89;0.954;0.974;0.853;0.943	P;P;P;P;P;P;P	0.61940	0.714;0.829;0.681;0.781;0.896;0.781;0.623	D	0.97292	0.9925	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205S;ENSP00000352610:Y205S;ENSP00000269305:Y205S;ENSP00000398846:Y205S;ENSP00000391127:Y205S;ENSP00000391478:Y205S;ENSP00000425104:Y73S;ENSP00000423862:Y112S	ENSP00000269305:Y205S	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	9	0	0	0	1	0	57	9					G	7578235	T	G	7578235	3	3	318	1	0	0	0	0	1	0	0	0	16378	1406	49	5	680	5	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		7578235	73616975	25	32079											
RAI1	10743	broad.mit.edu	37	chr17	17699246	17699246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagcctgtgccacgggGcaaaagcttacggagccgtc	14	11	0	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:17699246G>A	ENST00000353383.1	+	3	3453	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D	RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	995					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTGCCACGGGGCAAAAGCTTA	0.662																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2983-2985)gGc>gAc		retinoic acid induced 1							16	18	17					17																	17699246		2201	4295	6496	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699246G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2984G>A	17.37:g.17699246G>A	ENSP00000323074:p.Gly995Asp					RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3453	+			995					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2984G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544758	0.65198	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69435	-0.4;0.2	3.92	3.92	0.45320	.	0.099650	0.43919	D	0.000519	T	0.72906	0.3519	L	0.57536	1.79	0.33390	D	0.57599	D	0.89917	1.0	D	0.71414	0.973	T	0.73613	-0.3927	10	0.14656	T	0.56	.	9.8851	0.41257	0.0953:0.0:0.9047:0.0	.	995	Q7Z5J4	RAI1_HUMAN	D	995;995;995;947	ENSP00000323074:G995D;ENSP00000261641:G995D	ENSP00000261641:G995D	G	+	2	0	RAI1	17639971	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	3.170000	0.50816	2.037000	0.60232	0.491000	0.48974	GGC		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	37	0	0	0	1	0	3	37					A	17699246	G	A	17699246	3	1	318	1	0	0	0	0	1	0	0	0	13007	1203	42	2	2986	2	RAI1	17	17699246	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	10121011	17699246	63495964	26	32080											
BPTF	2186	broad.mit.edu	37	chr17	65909179	65909179	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttgttttgcctaatgatGacttaaaaaagttggcccga	8	6	0	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:65909179G>T	ENST00000321892.4	+	13	5618	c.5557G>T	c.(5557-5559)Gac>Tac	p.D1853Y	BPTF_ENST00000306378.6_Missense_Mutation_p.D1727Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D1853Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1714Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1853					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)			GCCTAATGATGACTTAAAAAA	0.398																																						ENST00000321892.4																			0				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						c.(5557-5559)Gac>Tac		bromodomain PHD finger transcription factor							87	90	89					17																	65909179		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65909179G>T	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.5557G>T	17.37:g.65909179G>T	ENSP00000315454:p.Asp1853Tyr					BPTF_ENST00000306378.6_Missense_Mutation_p.D1727Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1714Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D1853Y	p.D1853Y			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	5618	+	all_cancers(12;6e-11)		1853					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5557G>T		.	.	.	.	.	.	.	.	.	.	G	15.82	2.944952	0.53079	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.64438	-0.1;-0.09;-0.09	5.76	5.76	0.90799	.	.	.	.	.	T	0.72301	0.3443	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.74051	-0.3789	9	0.87932	D	0	-11.6113	19.9381	0.97149	0.0:0.0:1.0:0.0	.	1727;1853	Q12830-2;Q12830-4	.;.	Y	1727;1853;1853	ENSP00000307208:D1727Y;ENSP00000334351:D1853Y;ENSP00000315454:D1853Y	ENSP00000307208:D1727Y	D	+	1	0	BPTF	63339641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.781000	0.99029	2.880000	0.98712	0.650000	0.86243	GAC		0.398	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	121	1	0	1	1	1	4	121					T	65909179	G	T	65909179	3	4	318	1	0	0	0	0	1	0	0	0	1495	1290	45	4	5607	4	BPTF	17	65909179	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	48209933	65909179	15286031	27	32081											
DSG2	1829	broad.mit.edu	37	chr18	29121270	29121270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgaaggagcaccacctgAagacaaggtcagtggatcag	12	8	2	3			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr18:29121270A>G	ENST00000261590.8	+	13	2203	c.1994A>G	c.(1993-1995)gAa>gGa	p.E665G	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	665					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)			GCACCACCTGAAGACAAGGTC	0.473																																						ENST00000261590.8																			0				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						c.(1993-1995)gAa>gGa		desmoglein 2							74	63	66					18																	29121270		1920	4132	6052	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29121270A>G	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.1994A>G	18.37:g.29121270A>G	ENSP00000261590:p.Glu665Gly						p.E665G	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		13	2203	+			665					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1994A>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778727	0.90195	.	.	ENSG00000046604	ENST00000261590	T	0.62639	0.01	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	T	0.81422	0.4819	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.84442	0.0583	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	665	Q14126	DSG2_HUMAN	G	665	ENSP00000261590:E665G	ENSP00000261590:E665G	E	+	2	0	DSG2	27375268	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.578000	0.74032	2.367000	0.80283	0.528000	0.53228	GAA		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		9	39	0	0	0	1	0	9	39					G	29121270	A	G	29121270	3	3	318	1	0	0	0	0	1	0	0	0	4777	246	9	3	2044	3	DSG2	18	29121270	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		29121270	48955978	28	32082											
MUC16	94025	broad.mit.edu	37	chr19	9088746	9088746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccattcgtggtctctgtTgtgaggatggttgttgatgg	17	5	1	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:9088746T>C	ENST00000397910.4	-	1	3272	c.3069A>G	c.(3067-3069)acA>acG	p.T1023T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1023	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						TGGTCTCTGTTGTGAGGATGG	0.468																																						ENST00000397910.4																			0				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						c.(3067-3069)acA>acG		mucin 16, cell surface associated							193	183	187					19																	9088746		1983	4164	6147	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088746T>C	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.3069A>G	19.37:g.9088746T>C							p.T1023T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3272	-			1023			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3069A>G	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		81	122	0	0	0	1	0	81	122					C	9088746	T	C	9088746	2	2	318	1	0	0	0	0	0	0	0	1	9973	1799	63	3		3	MUC16	19	9088746	Silent	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		9088746	50040237	29	32083											
MAP3K10	4294	broad.mit.edu	37	chr19	40719044	40719044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccccaacctgggcaagTcccccaaacacacacccatc	6	20	0	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:40719044T>C	ENST00000253055.3	+	8	2074	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	596					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTGGGCAAGTCCCCCAAACA	0.612																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1786-1788)Tcc>Ccc		mitogen-activated protein kinase kinase kinase 10							40	38	39					19																	40719044		2203	4296	6499	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719044T>C	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1786T>C	19.37:g.40719044T>C	ENSP00000253055:p.Ser596Pro						p.S596P	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			8	2074	+			596					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1786T>C	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.844006	0.71488	.	.	ENSG00000130758	ENST00000253055	T	0.14144	2.53	5.13	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	L	0.53249	1.67	0.41469	D	0.988097	D	0.65815	0.995	P	0.61201	0.885	T	0.00893	-1.1524	10	0.59425	D	0.04	.	10.3873	0.44148	0.0:0.0:0.1648:0.8352	.	596	Q02779	M3K10_HUMAN	P	596	ENSP00000253055:S596P	ENSP00000253055:S596P	S	+	1	0	MAP3K10	45410884	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	2.779000	0.47734	0.781000	0.33589	0.460000	0.39030	TCC		0.612	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		7	9	0	0	0	1	0	7	9					C	40719044	T	C	40719044	3	2	318	1	0	0	0	0	1	0	0	0	9244	1667	58	3	1816	3	MAP3K10	19	40719044	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	31630298	40719044	18409939	30	32084											
ZNF616	90317	broad.mit.edu	37	chr19	52618795	52618795	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcttctctccagtatgaattCtccgatgccttgcaaaagct	7	12	2	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:52618795C>G	ENST00000600228.1	-	4	1883	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	541					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)		AGTATGAATTCTCCGATGCCT	0.443																																						ENST00000600228.1																			0				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						c.(1621-1623)aGa>aCa		zinc finger protein 616							99	95	96					19																	52618795		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618795C>G	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.1622G>C	19.37:g.52618795C>G	ENSP00000471000:p.Arg541Thr					ZNF616_ENST00000330123.5_3'UTR	p.R541T	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1883	-			541					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1622G>C	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068176	0.36470	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53850	0.1822	M	0.80982	2.52	0.21445	N	0.999686	D	0.67145	0.996	D	0.64877	0.93	T	0.48019	-0.9071	8	0.66056	D	0.02	.	0.9375	0.01348	0.1711:0.3868:0.1705:0.2716	.	541	Q08AN1	ZN616_HUMAN	T	541	.	ENSP00000328722:R541T	R	-	2	0	ZNF616	57310607	0.000000	0.05858	0.010000	0.14722	0.468000	0.32798	-3.018000	0.00644	-1.159000	0.02807	0.305000	0.20034	AGA		0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		35	61	0	0	0	1	0	35	61					G	52618795	C	G	52618795	3	3	318	1	0	0	0	0	1	0	0	0	18038	913	32	4	727	4	ZNF616	19	52618795	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	11899751	52618795	6510188	31	32085											
FAM3B	54097	broad.mit.edu	37	chr21	42710402	42710402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggcagaagcaagtaCgccaaaatctgctttgagga	14	7	1	2	rs376038821		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr21:42710402C>T	ENST00000357985.2	+	3	407	c.261C>T	c.(259-261)taC>taT	p.Y87Y	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000398652.3_Silent_p.Y126Y	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	87					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAAGCAAGTACGCCAAAATCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20252	0.0		0.0	False		,,,				2504	0.001					ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(376-378)taC>taT		family with sequence similarity 3, member B							121	103	109					21																	42710402		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42710402C>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"pancreatic-derived factor"	608617	"chromosome 21 open reading frame 11"	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.261C>T	21.37:g.42710402C>T						FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000357985.2_Silent_p.Y87Y|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000479810.2_3'UTR	p.Y126Y			P58499	FAM3B_HUMAN			4	444	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	87						Silent	SNP	ENST00000357985.2	37	c.378C>T	CCDS13671.1																																																																																				0.502	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		38	56	0	0	0	1	0	38	56					T	42710402	C	T	42710402	2	4	318	1	0	0	0	0	0	0	0	1	5557	547	19	1		1	FAM3B	21	42710402	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		42710402	5419493	32	32086											
ZC3H7B	23264	broad.mit.edu	37	chr22	41739418	41739418	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtccaccctgcccataGgcccccgggctggcgactac	12	17	0	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr22:41739418G>T	ENST00000352645.4	+	13	1554		c.e13-1		ZC3H7B_ENST00000351589.4_Splice_Site	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B						viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTGCCCATAGGCCCCCGGGC	0.617																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.e13-1		zinc finger CCCH-type containing 7B							54	56	55					22																	41739418		2203	4298	6501	SO:0001630	splice_region_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739418G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1298-1G>T	22.37:g.41739418G>T						ZC3H7B_ENST00000351589.4_Splice_Site		NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			13	1554	+								A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Splice_Site	SNP	ENST00000352645.4	37		CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486049	0.84854	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2559	0.93945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H7B	40069364	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.268000	0.78473	2.553000	0.86117	0.491000	0.48974	.		0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590	Intron	4	136	1	0	0.00909568	1	0.00968888	4	136					T	41739418	G	T	41739418	5	4	318	1	0	0	0	0	0	0	1	0	17570	1014	35	4	1343	4	ZC3H7B	22	41739418	Splice_Site	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		41739418	9565148	33	32087											
CSF2RA	1438	broad.mit.edu	37	chrX	1413343	1413343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttcagtaccagctggacGtccacagaaaggtcggtgag	12	10	1	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:1413343G>A	ENST00000381524.3	+	8	955	c.769G>A	c.(769-771)Gtc>Atc	p.V257I	CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	257	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CCAGCTGGACGTCCACAGAAA	0.632																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(769-771)Gtc>Atc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						193	159	171					X																	1413343		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413343G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.769G>A	X.37:g.1413343G>A	ENSP00000370935:p.Val257Ile					CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I	p.V257I			P15509	CSF2R_HUMAN			8	955	+		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)	257					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.769G>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.650330	0.00785	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	1.54	0.123	0.14709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.317619	0.19969	N	0.102033	T	0.59128	0.2171	.	.	.	0.09310	N	1	B;B;B;B;B	0.28178	0.061;0.0;0.1;0.202;0.048	B;B;B;B;B	0.12837	0.008;0.0;0.004;0.008;0.004	T	0.51694	-0.8673	9	0.06494	T	0.89	.	3.3447	0.07131	0.7328:0.0:0.2672:0.0	.	257;257;257;257;257	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	I	257;257;257;257;124;257;257;257;257;257	ENSP00000370940:V257I;ENSP00000416437:V257I;ENSP00000354836:V257I;ENSP00000440491:V124I;ENSP00000370935:V257I;ENSP00000370920:V257I;ENSP00000347606:V257I;ENSP00000394227:V257I;ENSP00000370911:V257I	ENSP00000347606:V257I	V	+	1	0	CSF2RA	1373343	0.013000	0.17824	0.797000	0.32132	0.311000	0.27955	-0.030000	0.12308	-0.124000	0.11724	0.100000	0.15512	GTC		0.632	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			43	71	0	0	0	1	0	43	71					A	1413343	G	A	1413343	3	1	318	1	0	0	0	0	1	0	0	0	3934	1145	40	1	791	1	CSF2RA	23	1413343	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		1413343	153857217	34	32088											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-													atcctgctttagtagaaatgAtaaataatcgtcctctgaaa							TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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.F2113fs*9(1)|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						AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(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						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	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.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		29	3						29	3	---	---	---	---	-	76814306	ATAA	-	76814303	7	5	318	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-A5RB-01A-11D-A289-08	75400960	76814303	78456257	35	32089											
FAM199X	139231	broad.mit.edu	37	chrX	103432819	103432819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcaccagtggagtgagCggtgccagtgccagcgccag	16	12	0	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:103432819C>A	ENST00000493442.1	+	5	994	c.828C>A	c.(826-828)agC>agA	p.S276R	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	276	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTGGAGTGAGCGGTGCCAGTG	0.552																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(826-828)agC>agA		family with sequence similarity 199, X-linked							107	96	100					X																	103432819		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432819C>A	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.828C>A	X.37:g.103432819C>A	ENSP00000417581:p.Ser276Arg					FAM199X_ENST00000299906.5_3'UTR	p.S276R	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			5	994	+			276			Ser-rich.		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.828C>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297179	0.23650	.	.	ENSG00000123575	ENST00000493442	T	0.46451	0.87	5.15	2.39	0.29439	.	0.076475	0.85682	D	0.000000	T	0.51890	0.1701	L	0.54323	1.7	0.58432	D	0.999991	P;D	0.71674	0.462;0.998	B;D	0.75484	0.214;0.986	T	0.44892	-0.9298	9	.	.	.	-8.6206	6.0885	0.19980	0.0:0.4953:0.0:0.5047	.	276;276	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	R	276	ENSP00000417581:S276R	.	S	+	3	2	FAM199X	103319475	0.585000	0.26774	1.000000	0.80357	0.997000	0.91878	-0.215000	0.09279	0.496000	0.27904	0.506000	0.49869	AGC		0.552	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	98	1	0	0.00909568	1	0.00968888	4	98					A	103432819	C	A	103432819	3	1	318	1	0	0	0	0	1	0	0	0	5530	767	27	4	846	4	FAM199X	23	103432819	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	26618516	103432819	51837741	36	32090											
PRAMEF1	65121	broad.mit.edu	37	chr1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagctgatgtgtacacTgagggaagtcaggcagccca	15	9	1	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	ENST00000332296.7	+	4	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	441					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)		ATGTGTACACTGAGGGAAGTC	0.562																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1321-1323)cTg>cAg		PRAME family member 1							169	173	172					1																	12856042		2202	4298	6500	SO:0001583	missense	65121							g.chr1:12856042T>A	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.1322T>A	1.37:g.12856042T>A	ENSP00000332134:p.Leu441Gln					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	p.L441Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		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)	4	1425	+	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)	441					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1322T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.638756	0.29157	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.46451	0.87;0.87	1.56	1.56	0.23342	.	0.339120	0.23492	N	0.047596	T	0.61426	0.2346	M	0.86343	2.81	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.48736	-0.9009	10	0.87932	D	0	.	5.2173	0.15350	0.0:0.0:0.0:1.0	.	441	O95521	PRAM1_HUMAN	Q	441;196	ENSP00000332134:L441Q;ENSP00000383616:L196Q	ENSP00000332134:L441Q	L	+	2	0	PRAMEF1	12778629	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.408000	0.34668	0.966000	0.38159	0.172000	0.16884	CTG		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		46	289	0	0	0	1	0	46	289					A	12856042	T	A	12856042	3	1	319	1	0	0	0	0	1	0	0	0	12425	1580	55	5	1332	5	PRAMEF1	1	12856042	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08		12856042	236394579	1	32091											
LUZP1	7798	broad.mit.edu	37	chr1	23418835	23418835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacacctcaaggcttcatgCggactgctgtcttccatcac	8	15	4	0	rs202187077		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468																																						ENST00000302291.4																			2	Substitution - coding silent(2)	p.P640P(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1918-1920)ccG>ccA		leucine zipper protein 1							188	179	182					1																	23418835		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23418835C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1920G>A	1.37:g.23418835C>T						LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P	p.P640P			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2721	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	640					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.1920G>A	CCDS30628.1																																																																																				0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	155	0	0	0	1	0	4	155					T	23418835	C	T	23418835	2	4	319	1	0	0	0	0	0	0	0	1	9086	755	27	1		1	LUZP1	1	23418835	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10562793	23418835	225831786	2	32092											
CSMD2	114784	broad.mit.edu	37	chr1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatcaaactcctcaaaggCgagcttgatcacctagggag	9	11	3	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	ENST00000338325.1	-	5	695	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	CSMD2_ENST00000373381.4_Missense_Mutation_p.A487T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	447	CUB 1. {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)				TCCTCAAAGGCGAGCTTGATC	0.532																																						ENST00000373381.4																			0				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						c.(1459-1461)Gcc>Acc		CUB and Sushi multiple domains 2							129	109	116					1																	34258115		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34258115C>T	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	ENST00000338325.1:c.283G>A	1.37:g.34258115C>T	ENSP00000340311:p.Ala95Thr					CSMD2_ENST00000338325.1_Missense_Mutation_p.A95T	p.A487T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			11	1635	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	447			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1459G>A		.	.	.	.	.	.	.	.	.	.	C	13.25	2.182574	0.38511	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.17370	2.28;2.28	5.06	4.03	0.46877	CUB (5);	0.057550	0.64402	D	0.000002	T	0.04048	0.0113	N	0.00823	-1.155	0.80722	D	1	B;B	0.18166	0.026;0.007	B;B	0.23150	0.044;0.01	T	0.37572	-0.9700	10	0.11182	T	0.66	.	4.5584	0.12149	0.0:0.7256:0.0:0.2744	.	447;487	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	487;95	ENSP00000362479:A487T;ENSP00000340311:A95T	ENSP00000241312:A447T	A	-	1	0	CSMD2	34030702	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	5.872000	0.69636	2.368000	0.80403	0.467000	0.42956	GCC		0.532	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		5	71	0	0	0	1	0	5	71					T	34258115	C	T	34258115	3	4	319	1	0	0	0	0	1	0	0	0	3945	768	27	1	9360	1	CSMD2	1	34258115	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10839280	34258115	214992506	3	32093											
CCDC30	728621	broad.mit.edu	37	chr1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagattggcttcttagagcGaattataaggagcatccata	10	7	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	ENST00000340612.4	+	12	1856	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000428554.2_Missense_Mutation_p.R619Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	619						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1855-1857)cGa>cAa		coiled-coil domain containing 30							122	106	112					1																	43110444		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43110444G>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1856G>A	1.37:g.43110444G>A	ENSP00000340378:p.Arg619Gln					CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q|CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000340612.4_Missense_Mutation_p.R619Q	p.R619Q			Q5VVM6	CCD30_HUMAN			20	2999	+			619					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1856G>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049062	0.36181	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.5	1.53	0.23141	.	0.517808	0.19144	N	0.121626	T	0.22859	0.0552	L	0.36672	1.1	0.09310	N	1	P;P	0.48350	0.795;0.909	B;B	0.33454	0.117;0.164	T	0.15954	-1.0419	10	0.24483	T	0.36	.	7.4196	0.27065	0.36:0.0:0.64:0.0	.	619;408	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Q	619;408;619;619;408	ENSP00000397035:R619Q;ENSP00000426711:R408Q;ENSP00000340378:R619Q;ENSP00000339280:R619Q;ENSP00000375051:R408Q	ENSP00000340378:R619Q	R	+	2	0	CCDC30	42883031	0.526000	0.26298	0.003000	0.11579	0.896000	0.52359	0.589000	0.23939	0.094000	0.17404	0.655000	0.94253	CGA		0.428	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		22	47	0	0	0	1	0	22	47					A	43110444	G	A	43110444	3	1	319	1	0	0	0	0	1	0	0	0	2805	1058	37	1	1902	1	CCDC30	1	43110444	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8852329	43110444	206140177	4	32094											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatgccatcatgacctcGggaagagctatgccaaccag	10	13	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	ENST00000290795.3	-	5	1522	c.301C>T	c.(301-303)Cga>Tga	p.R101*	GPBP1L1_ENST00000355105.3_Nonsense_Mutation_p.R101*			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557																																						ENST00000355105.3																		GPBP1L1/MAST2_ENST00000361297(2)	0				breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21						c.(301-303)Cga>Tga		GC-rich promoter binding protein 1-like 1							85	76	79					1																	46120391		2203	4300	6503	SO:0001587	stop_gained	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120391G>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.301C>T	1.37:g.46120391G>A	ENSP00000290795:p.Arg101*					GPBP1L1_ENST00000290795.3_Nonsense_Mutation_p.R101*	p.R101*	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN			6	1661	-	Acute lymphoblastic leukemia(166;0.155)		101					D3DQ10|Q9H751	Nonsense_Mutation	SNP	ENST00000290795.3	37	c.301C>T	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	48	14.233875	0.99785	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	.	.	.	5.95	4.03	0.46877	.	0.057315	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.4507	15.2662	0.73663	0.0:0.0:0.7434:0.2565	.	.	.	.	X	101	.	ENSP00000290795:R101X	R	-	1	2	GPBP1L1	45892978	1.000000	0.71417	0.741000	0.31004	0.896000	0.52359	5.858000	0.69532	0.805000	0.34159	0.655000	0.94253	CGA		0.557	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		26	34	0	0	0	1	0	26	34					A	46120391	G	A	46120391	4	1	319	1	0	0	0	0	0	1	0	0	6596	1124	39	1	1155	1	GPBP1L1	1	46120391	Nonsense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3009947	46120391	203130230	5	32095											
C1orf173	127254	broad.mit.edu	37	chr1	75038487	75038487	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaattgcctcttcagaAccgtcctctctctttgatgc	6	14	4	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	ENST00000326665.5	-	14	3125	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		969	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						CCTCTTCAGAACCGTCCTCTC	0.522																																						ENST00000326665.5																			0				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						c.(2905-2907)ggT>ggG		chromosome 1 open reading frame 173							140	130	133					1																	75038487		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038487A>C																												ENST00000326665.5:c.2907T>G	1.37:g.75038487A>C						C1orf173_ENST00000433746.2_5'UTR	p.G969G	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3125	-			969			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2907T>G	CCDS30755.1																																																																																				0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			44	76	0	0	0	1	0	44	76					C	75038487	A	C	75038487	2	2	319	1	0	0	0	0	0	0	0	1	2014	30	2	5		5	C1orf173	1	75038487	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	28918096	75038487	174212134	6	32096											
ELTD1	64123	broad.mit.edu	37	chr1	79470885	79470885	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgagtataggaacaattCaacaaagtggaaaaaaccac	7	6	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					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)		AGGAACAATTCAACAAAGTGG	0.333																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(40-42)ttG>ttA		EGF, latrophilin and seven transmembrane domain containing 1							71	61	64					1																	79470885		1813	4079	5892	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470885C>T	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.42G>A	1.37:g.79470885C>T							p.L14L	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	105	-			14					B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.42G>A	CCDS41352.1																																																																																				0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		9	23	0	0	0	1	0	9	23					T	79470885	C	T	79470885	2	4	319	1	0	0	0	0	0	0	0	1	5084	825	29	2		2	ELTD1	1	79470885	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4432398	79470885	169779736	7	32097											
OTUD7B	56957	broad.mit.edu	37	chr1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttccgccggccgccctCgttgctggtggaactgctgc	12	17	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	ENST00000369135.4	-	12	1732	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	480					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1438-1440)Gag>Aag		OTU domain containing 7B							130	134	133					1																	149916850		2088	4219	6307	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916850C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1438G>A	1.37:g.149916850C>T	ENSP00000358131:p.Glu480Lys						p.E480K	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1732	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		480					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1438G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	3.457	-0.110775	0.06924	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.29655	1.56	4.99	4.99	0.66335	.	0.139866	0.64402	D	0.000007	T	0.08313	0.0207	N	0.08118	0	0.47037	D	0.999292	B	0.24882	0.113	B	0.22880	0.042	T	0.13469	-1.0508	9	.	.	.	-4.5667	17.451	0.87592	0.0:1.0:0.0:0.0	.	480	Q6GQQ9	OTU7B_HUMAN	K	480	ENSP00000358131:E480K	.	E	-	1	0	OTUD7B	148183474	0.268000	0.24133	0.998000	0.56505	0.343000	0.28985	1.432000	0.34936	2.600000	0.87896	0.557000	0.71058	GAG		0.582	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		8	156	0	0	0	1	0	8	156					T	149916850	C	T	149916850	3	4	319	1	0	0	0	0	1	0	0	0	11319	893	31	1	1097	1	OTUD7B	1	149916850	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	70445965	149916850	99333771	8	32098											
FLG	2312	broad.mit.edu	37	chr1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtccaccagaggaagtctCtgcatgacgagtgcctgatt	11	11	1	3	rs201990594		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	ENST00000368799.1	-	3	5010	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1659	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)			GAGGAAGTCTCTGCATGACGA	0.562									Ichthyosis																													ENST00000368799.1																			0				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						c.(4975-4977)Gag>Aag		filaggrin							301	302	301					1																	152282387		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282387C>T	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.4975G>A	1.37:g.152282387C>T	ENSP00000357789:p.Glu1659Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E1659K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5010	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1659			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4975G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686130	0.14973	.	.	ENSG00000143631	ENST00000368799	T	0.00856	5.61	2.32	-3.57	0.04612	.	.	.	.	.	T	0.00524	0.0017	M	0.67953	2.075	0.09310	N	1	P	0.46656	0.882	P	0.46796	0.527	T	0.30822	-0.9965	9	0.06625	T	0.88	.	10.6039	0.45384	0.0:0.274:0.726:0.0	.	1659	P20930	FILA_HUMAN	K	1659	ENSP00000357789:E1659K	ENSP00000357789:E1659K	E	-	1	0	FLG	150549011	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.085000	0.03390	-0.560000	0.06102	0.306000	0.20318	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		167	315	0	0	0	1	0	167	315					T	152282387	C	T	152282387	3	4	319	1	0	0	0	0	1	0	0	0	5922	922	32	2	7214	2	FLG	1	152282387	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	2365537	152282387	96968234	9	32099											
OBSCN	84033	broad.mit.edu	37	chr1	228548163	228548163	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcatgcactgggtcccCgaggccctctcggcctcttt	13	15	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:228548163C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R6524*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				ACTGGGTCCCCGAGGCCCTCT	0.687																																						ENST00000284548.11																			0				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						c.(19570-19572)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							16	20	19					1																	228548163		1953	4134	6087	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228548163C>T	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.18662-2114C>T	1.37:g.228548163C>T						OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*	p.R6524*			Q5VST9	OBSCN_HUMAN			81	19644	+		Prostate(94;0.0405)	7545			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.19570C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	63	79.281198	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	.	.	.	4.06	-2.25	0.06888	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	2.8309	0.05499	0.4633:0.1638:0.2797:0.0932	.	.	.	.	X	6524;3643	.	ENSP00000284548:R6524X	R	+	1	2	OBSCN	226614786	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.056000	0.11787	-0.210000	0.10140	0.591000	0.81541	CGA		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	29	0	0	0	1	0	17	29					T	228548163	C	T	228548163	1	4	319	0	1	0	0	0	0	0	0	0	10812	644	23	1		1	OBSCN	1	228548163	Intron	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	76265776	228548163	20702458	10	32100											
HADHA	3030	broad.mit.edu	37	chr2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccattgatggcagccacaAtaggctttgtggacttttca	9	9	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	ENST00000380649.3	-	5	539	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	137					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGCCACAATAGGCTTTGT	0.443																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(409-411)aTt>aCt		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						122	112	115					2																	26457128		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26457128A>G	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.410T>C	2.37:g.26457128A>G	ENSP00000370023:p.Ile137Thr					HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	p.I137T	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			5	539	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		137					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.410T>C	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260284	0.80246	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.68181	-0.31;-0.31	5.81	5.81	0.92471	Crotonase, core (1);	0.297133	0.40222	N	0.001144	T	0.61664	0.2365	L	0.35793	1.09	0.50467	D	0.999876	B;P;P	0.36909	0.002;0.573;0.573	B;B;B	0.41813	0.064;0.367;0.367	T	0.60332	-0.7284	10	0.32370	T	0.25	-6.7002	14.1229	0.65201	1.0:0.0:0.0:0.0	.	50;137;137	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	T	137;50	ENSP00000370023:I137T;ENSP00000405344:I50T	ENSP00000370023:I137T	I	-	2	0	HADHA	26310632	1.000000	0.71417	0.819000	0.32651	0.925000	0.55904	8.474000	0.90413	2.225000	0.72522	0.533000	0.62120	ATT		0.443	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		21	42	0	0	0	1	0	21	42					G	26457128	A	G	26457128	3	3	319	1	0	0	0	0	1	0	0	0	6943	101	4	3	1945	3	HADHA	2	26457128	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		26457128	216742245	11	32101											
MYEOV2	150678	broad.mit.edu	37	chr2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaaaaagtctgcatgaaCggccttttcattggctgcca	9	9	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	ENST00000607357.1	-	2	133	c.115G>A	c.(115-117)Gtt>Att	p.V39I	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000307266.3_Missense_Mutation_p.V70I	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483																																						ENST00000307266.3																			1	Substitution - Missense(1)	p.V70F(1)	lung(1)	breast(1)|lung(5)|pancreas(1)	7						c.(208-210)Gtt>Att		myeloma overexpressed 2							127	130	129					2																	241073371		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241073371C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.115G>A	2.37:g.241073371C>T	ENSP00000475979:p.Val39Ile					MYEOV2_ENST00000607357.1_Missense_Mutation_p.V39I|MYEOV2_ENST00000489698.1_5'UTR	p.V70I	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	2	207	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	39					Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37	c.208G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.157287	0.78114	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	3.67	0.42095	.	0.000000	0.64402	U	0.000001	T	0.70491	0.3230	.	.	.	0.58432	D	0.999997	B;D	0.67145	0.013;0.996	B;P	0.61874	0.008;0.895	T	0.73142	-0.4076	8	0.72032	D	0.01	-4.0557	10.5952	0.45333	0.0:0.9036:0.0:0.0963	.	39;70	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	I	70;60	.	ENSP00000304147:V70I	V	-	1	0	MYEOV2	240722044	1.000000	0.71417	0.472000	0.27241	0.971000	0.66376	6.092000	0.71414	1.042000	0.40150	0.650000	0.86243	GTT		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		33	84	0	0	0	1	0	33	84					T	241073371	C	T	241073371	3	4	319	1	0	0	0	0	1	0	0	0	10026	536	19	1	570	1	MYEOV2	2	241073371	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	214616243	241073371	2126002	12	32102											
LMCD1	29995	broad.mit.edu	37	chr3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccactgctgctaccaccaAcggcagtctcagtgacccgt	9	16	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	ENST00000157600.3	+	4	918	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(685-687)aAc>aGc		LIM and cysteine-rich domains 1							37	27	31					3																	8590552		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8590552A>G	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.686A>G	3.37:g.8590552A>G	ENSP00000157600:p.Asn229Ser					LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S	p.N229S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	4	918	+			229					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.686A>G	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908257	0.33721	.	.	ENSG00000071282	ENST00000157600;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	T;T;T;T;T	0.77358	0.84;-1.09;0.84;0.83;-1.08	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.80154	0.4571	L	0.32530	0.975	0.49051	D	0.999745	D;B;D	0.67145	0.996;0.23;0.991	D;B;P	0.73380	0.98;0.032;0.787	T	0.75808	-0.3187	10	0.16896	T	0.51	-45.2784	13.231	0.59943	1.0:0.0:0.0:0.0	.	229;117;229	F5GX84;B4DEY6;Q9NZU5	.;.;LMCD1_HUMAN	S	229;229;156;117;186	ENSP00000157600:N229S;ENSP00000441100:N229S;ENSP00000396515:N156S;ENSP00000380542:N117S;ENSP00000411222:N186S	ENSP00000157600:N229S	N	+	2	0	LMCD1	8565552	1.000000	0.71417	0.989000	0.46669	0.029000	0.11900	6.837000	0.75354	2.147000	0.66899	0.533000	0.62120	AAC		0.612	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		16	30	0	0	0	1	0	16	30					G	8590552	A	G	8590552	3	3	319	1	0	0	0	0	1	0	0	0	8844	43	2	3	700	3	LMCD1	3	8590552	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		8590552	189431878	13	32103											
SCN5A	6331	broad.mit.edu	37	chr3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgcttctctgccatgcGcttctcgatggctgccaggg	13	13	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	ENST00000333535.4	-	2	228	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R27C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	27			R -> H (in BRGDA1). {ECO:0000269|PubMed:11901046}.		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)	TCTGCCATGCGCTTCTCGATG	0.647																																						ENST00000413689.1																			0				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						c.(79-81)Cgc>Tgc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						35	38	37					3																	38674720		2016	4161	6177	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38674720G>A	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.79C>T	3.37:g.38674720G>A	ENSP00000328968:p.Arg27Cys					SCN5A_ENST00000333535.4_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C	p.R27C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	2	272	-	Medulloblastoma(35;0.163)		27		R -> H (in BRS1).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.79C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158330	0.78114	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	D;D;D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.55	4.55	0.56014	.	0.059558	0.64402	D	0.000003	D	0.91761	0.7394	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0	P;P;P;P;D;P	0.67103	0.765;0.732;0.828;0.791;0.949;0.897	D	0.93452	0.6803	10	0.87932	D	0	.	17.4987	0.87725	0.0:0.0:1.0:0.0	.	27;27;27;27;27;27	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	27	ENSP00000398962:R27C;ENSP00000398266:R27C;ENSP00000410257:R27C;ENSP00000388797:R27C;ENSP00000397915:R27C;ENSP00000416634:R27C;ENSP00000328968:R27C;ENSP00000399524:R27C;ENSP00000403355:R27C;ENSP00000413996:R27C;ENSP00000333674:R27C	ENSP00000333674:R27C	R	-	1	0	SCN5A	38649724	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.593000	0.82686	2.349000	0.79799	0.491000	0.48974	CGC		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		19	45	0	0	0	1	0	19	45					A	38674720	G	A	38674720	3	1	319	1	0	0	0	0	1	0	0	0	13922	1087	38	1	6175	1	SCN5A	3	38674720	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	30084168	38674720	159347710	14	32104											
COL7A1	1294	broad.mit.edu	37	chr3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgaccagtctcacgcCgccattccaaccggtagcca	8	18	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	ENST00000328333.8	-	10	1453	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	449	Fibronectin type-III 3. {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)		AGTCTCACGCCGCCATTCCAA	0.632																																						ENST00000328333.8																			0				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						c.(1345-1347)cGg>cAg		collagen, type VII, alpha 1							64	73	70					3																	48629342		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629342C>T	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.1346G>A	3.37:g.48629342C>T	ENSP00000332371:p.Arg449Gln					COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1453	-			449			Fibronectin type-III 3.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1346G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791825	0.31685	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57436	0.4;0.4	4.44	-0.675	0.11364	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.739382	0.11130	N	0.596433	T	0.44222	0.1283	L	0.55990	1.75	0.26835	N	0.968503	B	0.13145	0.007	B	0.11329	0.006	T	0.38693	-0.9649	10	0.42905	T	0.14	.	8.359	0.32348	0.0:0.3563:0.0:0.6437	.	449	Q02388	CO7A1_HUMAN	Q	449	ENSP00000332371:R449Q;ENSP00000412569:R449Q	ENSP00000332371:R449Q	R	-	2	0	COL7A1	48604346	0.070000	0.21116	0.994000	0.49952	0.952000	0.60782	-0.169000	0.09911	-0.136000	0.11475	0.462000	0.41574	CGG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		99	77	0	0	0	1	0	99	77					T	48629342	C	T	48629342	3	4	319	1	0	0	0	0	1	0	0	0	3704	652	23	1	7924	1	COL7A1	3	48629342	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	9954622	48629342	149393088	15	32105											
ITIH1	3697	broad.mit.edu	37	chr3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaggttgttttgcacCgagtgtggaaggggagctcg	16	7	0	1	rs200827836	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:52824844C>T	ENST00000273283.2	+	20	2425	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*|ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	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)		TGTTTTGCACCGAGTGTGGAA	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19914	0.0		0.0	False		,,,				2504	0.0					ENST00000273283.2																			0				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						c.(2401-2403)Cga>Tga		inter-alpha-trypsin inhibitor heavy chain 1		C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	197	163	174		1975,1537,1537,2401	3.8	1	3		174	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	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	,,,	659/770,513/624,513/624,801/912	52824844	1,13005	2203	4300	6503	SO:0001587	stop_gained	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52824844C>T		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.2401C>T	3.37:g.52824844C>T	ENSP00000273283:p.Arg801*					ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*|ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*|ITIH1_ENST00000542827.1_3'UTR	p.R801*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		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)	20	2425	+			801			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Nonsense_Mutation	SNP	ENST00000273283.2	37	c.2401C>T	CCDS2864.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.600212	0.98381	0.0	1.16E-4	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	.	.	.	5.75	3.8	0.43715	.	0.186185	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1138	13.1533	0.59503	0.2988:0.7012:0.0:0.0	.	.	.	.	X	801;659;513;354;167	.	ENSP00000273283:R801X	R	+	1	2	ITIH1	52799884	0.042000	0.20092	0.997000	0.53966	0.377000	0.30045	0.135000	0.15952	1.373000	0.46208	0.655000	0.94253	CGA		0.612	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		7	224	0	0	0	1	0	7	224					T	52824844	C	T	52824844	4	4	319	1	0	0	0	0	0	1	0	0	7903	644	23	1	2479	1	ITIH1	3	52824844	Nonsense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4195502	52824844	145197586	16	32106											
STXBP5L	9515	broad.mit.edu	37	chr3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaccaccatttcgaaagGcccagtcagcagcctgcatg	10	13	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	ENST00000273666.6	+	22	2642	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	791					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2371-2373)Gcc>Tcc		syntaxin binding protein 5-like							54	51	52					3																	121097685		1854	4101	5955	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097685G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2371G>T	3.37:g.121097685G>T	ENSP00000273666:p.Ala791Ser					STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2642	+			791					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2371G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680006	0.47886	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.28255	1.85;1.89;1.67;1.62	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	L	0.51422	1.61	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.005;0.006	T	0.11567	-1.0582	10	0.10111	T	0.7	-16.9812	17.7945	0.88565	0.0:0.0:1.0:0.0	.	767;791	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	791;767;767;791	ENSP00000273666:A791S;ENSP00000420019:A767S;ENSP00000419627:A767S;ENSP00000420666:A791S	ENSP00000273666:A791S	A	+	1	0	STXBP5L	122580375	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.182000	0.94881	2.514000	0.84764	0.585000	0.79938	GCC		0.388	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			15	29	1	0	4.7546e-09	1	4.80465e-09	15	29					T	121097685	G	T	121097685	3	4	319	1	0	0	0	0	1	0	0	0	15356	1203	42	4	2453	4	STXBP5L	3	121097685	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	68272841	121097685	76924745	17	32107											
MFI2	4241	broad.mit.edu	37	chr3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacatcccttccagcgccGccacgtagtccagccccagc	8	20	0	0	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	ENST00000296350.5	-	15	2209	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	699	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(2095-2097)gCg>gTg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5		G	VAL/ALA	0,4406		0,0,2203	117	131	126		2096	1.6	0.1	3	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	MFI2	NM_005929.5	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	699/739	196730813	1,13005	2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196730813G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.2096C>T	3.37:g.196730813G>A	ENSP00000296350:p.Ala699Val					MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	p.A699V	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	15	2209	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		699			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.2096C>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358060	0.41801	0.0	1.16E-4	ENSG00000163975	ENST00000296350	T	0.33438	1.41	5.62	1.58	0.23477	.	0.290400	0.37178	N	0.002208	T	0.16896	0.0406	L	0.34521	1.04	0.49798	D	0.999825	B	0.15930	0.015	B	0.12156	0.007	T	0.11817	-1.0572	10	0.30078	T	0.28	-2.8768	1.4522	0.02377	0.1673:0.1429:0.3967:0.2931	.	699	P08582	TRFM_HUMAN	V	699	ENSP00000296350:A699V	ENSP00000296350:A699V	A	-	2	0	MFI2	198215210	0.209000	0.23505	0.078000	0.20375	0.949000	0.60115	0.561000	0.23515	-0.001000	0.14495	0.561000	0.74099	GCG		0.647	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			94	178	0	0	0	1	0	94	178					A	196730813	G	A	196730813	3	1	319	1	0	0	0	0	1	0	0	0	9522	1087	38	1	128	1	MFI2	3	196730813	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	75633128	196730813	1291617	18	32108											
UGT2B7	7364	broad.mit.edu	37	chr4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggaataaaccagataCcttaggtctcaatactcggc	9	9	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	ENST00000508661.1	+	4	1064	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000305231.7_Missense_Mutation_p.T346N			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	346					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)	AAACCAGATACCTTAGGTCTC	0.358																																						ENST00000305231.7																			0				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						c.(1036-1038)aCc>aAc		UDP glucuronosyltransferase 2 family, polypeptide B7							148	146	147					4																	69972927		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69972927C>A	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.1037C>A	4.37:g.69972927C>A	ENSP00000427659:p.Thr346Asn					UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.T346N	p.T346N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			4	1083	+			346					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.1037C>A		.	.	.	.	.	.	.	.	.	.	C	3.814	-0.039216	0.07497	.	.	ENSG00000171234	ENST00000502942;ENST00000305231;ENST00000508661	T;T;T	0.59772	0.24;0.24;0.24	2.93	1.05	0.20165	.	0.150970	0.43579	U	0.000544	T	0.45115	0.1326	L	0.38692	1.165	0.09310	N	1	B;B	0.15719	0.014;0.006	B;B	0.30782	0.12;0.042	T	0.35151	-0.9800	9	.	.	.	.	9.1648	0.37046	0.3854:0.6146:0.0:0.0	.	346;346	E9PBP8;P16662	.;UD2B7_HUMAN	N	97;346;346	ENSP00000426206:T97N;ENSP00000304811:T346N;ENSP00000427659:T346N	.	T	+	2	0	UGT2B7	70007516	0.000000	0.05858	0.123000	0.21794	0.074000	0.17049	0.397000	0.20883	0.070000	0.16634	0.585000	0.79938	ACC		0.358	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		29	91	1	0	9.80977e-26	1	1.02363e-25	29	91					A	69972927	C	A	69972927	3	1	319	1	0	0	0	0	1	0	0	0	16959	507	18	4	1051	4	UGT2B7	4	69972927	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		69972927	121181349	19	32109											
BMP3	651	broad.mit.edu	37	chr4	81967784	81967784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattattgctctggagcatgCcagttccccatgccaaaggt	9	11	1	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:81967784C>T	ENST00000282701.2	+	2	1529	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	403					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGGAGCATGCCAGTTCCCCA	0.448																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1207-1209)tgC>tgT		bone morphogenetic protein 3							154	152	153					4																	81967784		2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967784C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1209C>T	4.37:g.81967784C>T							p.C403C	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	1529	+			403					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.1209C>T	CCDS3588.1																																																																																				0.448	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			5	217	0	0	0	1	0	5	217					T	81967784	C	T	81967784	2	4	319	1	0	0	0	0	0	0	0	1	1461	747	26	2		2	BMP3	4	81967784	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	11994857	81967784	109186492	20	32110											
PRDM9	56979	broad.mit.edu	37	chr5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaagaatgggcagagatGggagactgggagaaaactcg	17	4	0	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:23509638G>T	ENST00000296682.3	+	3	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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						GGGCAGAGATGGGAGACTGGG	0.433										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(127-129)atG>atT		PR domain containing 9							212	197	201					5																	23509638		1870	4120	5990	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509638G>T	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.129G>T	5.37:g.23509638G>T	ENSP00000296682:p.Met43Ile	HNSCC(3;0.000094)					p.M43I	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			3	311	+			43			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.129G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771536	0.49680	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01629	4.72;4.72	2.76	2.76	0.32466	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.05777	0.0151	L	0.48362	1.52	0.24772	N	0.992867	P	0.49559	0.925	D	0.65140	0.932	T	0.24621	-1.0155	9	0.87932	D	0	-1.2549	9.1521	0.36969	0.0:0.0:1.0:0.0	.	43	Q9NQV7	PRDM9_HUMAN	I	43	ENSP00000425471:M43I;ENSP00000296682:M43I	ENSP00000296682:M43I	M	+	3	0	PRDM9	23545395	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.247000	0.32815	1.840000	0.53500	0.609000	0.83330	ATG		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	165	1	0	5.9392e-07	1	5.9392e-07	6	165					T	23509638	G	T	23509638	3	4	319	1	0	0	0	0	1	0	0	0	12463	1348	47	4	135	4	PRDM9	5	23509638	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		23509638	157405622	21	32111											
MTMR12	54545	broad.mit.edu	37	chr5	32235068	32235068	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaagagggactcttacCatgttagtatctttttgatg	8	7	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	ENST00000382142.3	-	14	1682	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	MTMR12_ENST00000280285.5_Splice_Site_p.M504I|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000510216.1_5'Flank|RNU6-1079P_ENST00000362861.1_RNA	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	504	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.e14+1		myotubularin related protein 12							107	106	107					5																	32235068		2203	4300	6503	SO:0001630	splice_region_variant	54545					cytoplasm	phosphatase activity	g.chr5:32235068C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	18191	protein-coding gene	gene with protein product		606501	"phosphatidylinositol-3-phosphate associated protein"	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1512+1G>A	5.37:g.32235068C>T						MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Splice_Site_p.M504_splice	p.M504_splice	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			14	1682	-			504			Interaction with MTM1.|Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	SNP	ENST00000382142.3	37	c.1512_splice	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092668	0.20471	.	.	ENSG00000150712	ENST00000280285;ENST00000382142	D;D	0.89939	-2.59;-2.59	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	1.080400	0.07016	N	0.825934	T	0.82010	0.4944	N	0.05510	-0.035	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.004	T	0.60219	-0.7306	9	.	.	.	.	19.3766	0.94512	0.0:1.0:0.0:0.0	.	504;504	Q9C0I1-2;Q9C0I1	.;MTMRC_HUMAN	I	504	ENSP00000280285:M504I;ENSP00000371577:M504I	.	M	-	3	0	MTMR12	32270825	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	3.236000	0.51336	2.565000	0.86533	0.561000	0.74099	ATG		0.378	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	Missense_Mutation	13	33	0	0	0	1	0	13	33					T	32235068	C	T	32235068	5	4	319	1	0	0	0	0	0	0	1	0	9941	608	21	2	743	2	MTMR12	5	32235068	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	8725430	32235068	148680192	22	32112											
ABLIM3	22885	broad.mit.edu	37	chr5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacccccgatctacaaaCggcatggtatggtcagaggt	12	10	2	1	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	ENST00000506113.1	+	14	1827	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000517451.1_5'Flank|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	449					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)			GATCTACAAACGGCATGGTAT	0.572																																						ENST00000506113.1																			0				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						c.(1345-1347)Cgg>Tgg		actin binding LIM protein family, member 3		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	129	117	121		1345	3.5	1	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABLIM3	NM_014945.2	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	449/684	148622095	3,13003	2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148622095C>T	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.1345C>T	5.37:g.148622095C>T	ENSP00000425394:p.Arg449Trp					ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W	p.R449W			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1827	+			449					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1345C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075570	0.76415	4.54E-4	1.16E-4	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.41	3.46	0.39613	.	0.472322	0.23894	N	0.043513	T	0.39989	0.1099	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.62491	0.903;0.73	T	0.40156	-0.9578	10	0.87932	D	0	.	14.3401	0.66619	0.3654:0.6346:0.0:0.0	.	354;449	O94929-3;O94929	.;ABLM3_HUMAN	W	354;449;449;416	ENSP00000315841:R354W;ENSP00000310309:R449W;ENSP00000425394:R449W;ENSP00000420855:R416W	ENSP00000310309:R449W	R	+	1	2	ABLIM3	148602288	0.999000	0.42202	0.976000	0.42696	0.975000	0.68041	1.653000	0.37323	1.354000	0.45846	0.591000	0.81541	CGG		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		12	130	0	0	0	1	0	12	130					T	148622095	C	T	148622095	3	4	319	1	0	0	0	0	1	0	0	0	96	527	19	1	1399	1	ABLIM3	5	148622095	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	116387027	148622095	32293165	23	32113											
ATP10B	23120	broad.mit.edu	37	chr5	160039781	160039781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatggtataaacagtgtcGgtctgatttaacagtctgca	10	6	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	ENST00000327245.5	-	18	3651	c.2805C>T	c.(2803-2805)acC>acT	p.T935T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	935					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)			AAACAGTGTCGGTCTGATTTA	0.493																																						ENST00000327245.5																			0				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						c.(2803-2805)acC>acT		ATPase, class V, type 10B							75	75	75					5																	160039781		2121	4251	6372	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160039781G>A	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.2805C>T	5.37:g.160039781G>A							p.T935T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		18	3651	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	935					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2805C>T	CCDS43394.1																																																																																				0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		12	50	0	0	0	1	0	12	50					A	160039781	G	A	160039781	2	1	319	1	0	0	0	0	0	0	0	1	1117	1103	39	1		1	ATP10B	5	160039781	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11417686	160039781	20875479	24	32114											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	9	20	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				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)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				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						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44	56	52					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	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.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			9	103	0	0	0	1	0	9	103					C	7229901	G	C	7229901	2	2	319	1	0	0	0	0	0	0	0	1	13679	1074	38	4		4	RREB1	6	7229901	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7229901	163885166	25	32115											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	213						8	213	---	---	---	---	A	31939830	-	A	31939829	7	5	319	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RC-01A-11D-A289-08	24709928	31939829	139175238	26	32116											
EGFL8	80864	broad.mit.edu	37	chr6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggaaaaagatgagcgcGctctgaagcaggagattcac	14	8	2	4	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	ENST00000395512.1	+	7	733	c.628G>T	c.(628-630)Gct>Tct	p.A210S	PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	210						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						AGATGAGCGCGCTCTGAAGCA	0.652																																						ENST00000395512.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(628-630)Gct>Tct		EGF-like-domain, multiple 8							44	45	45					6																	32135153		1509	2708	4217	SO:0001583	missense	80864					extracellular region|integral to membrane	calcium ion binding	g.chr6:32135153G>T	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.628G>T	6.37:g.32135153G>T	ENSP00000378888:p.Ala210Ser					PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S	p.A210S			Q99944	EGFL8_HUMAN			7	733	+			210					B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	c.628G>T	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	0.837	-0.743096	0.03088	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.89123	-2.47;-2.47;2.14	5.45	1.11	0.20524	.	.	.	.	.	T	0.62600	0.2441	L	0.37750	1.13	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50021	-0.8876	9	0.10902	T	0.67	-6.7557	5.4355	0.16478	0.1705:0.0:0.5379:0.2916	.	210	Q99944	EGFL8_HUMAN	S	210;210;190	ENSP00000333380:A210S;ENSP00000378888:A210S;ENSP00000401694:A190S	ENSP00000333380:A210S	A	+	1	0	EGFL8	32243131	0.000000	0.05858	0.062000	0.19696	0.004000	0.04260	-0.427000	0.06999	0.270000	0.21984	-0.448000	0.05591	GCT		0.652	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		36	44	1	0	3.76114e-14	1	3.84116e-14	36	44					T	32135153	G	T	32135153	3	4	319	1	0	0	0	0	1	0	0	0	4965	1087	38	4	650	4	EGFL8	6	32135153	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	195324	32135153	138979914	27	32117											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcttacgtttccttgagtCtcctgatttccagccaaaca	5	13	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	ENST00000485511.1	+	6	847	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	223					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(667-669)tCt>tTt		protein phosphatase 2, regulatory subunit B', delta							246	221	230					6																	42975186		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975186C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.668C>T	6.37:g.42975186C>T	ENSP00000417963:p.Ser223Phe					PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F	p.S223F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	847	+			223					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.668C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609235	0.87258	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.56444	0.46;0.5;0.47;0.55	5.81	5.81	0.92471	Armadillo-type fold (1);	0.112313	0.64402	D	0.000005	T	0.80204	0.4580	H	0.97340	3.985	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.957;0.973;0.999;0.984	D	0.86419	0.1753	10	0.87932	D	0	-12.1576	15.5975	0.76599	0.0:0.8631:0.1369:0.0	.	117;223;223;191	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	F	223;191;215;223;117	ENSP00000417963:S223F;ENSP00000377669:S191F;ENSP00000420550:S215F;ENSP00000420674:S117F	ENSP00000377669:S191F	S	+	2	0	PPP2R5D	43083164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.755000	0.94549	0.650000	0.86243	TCT		0.512	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		45	82	0	0	0	1	0	45	82					T	42975186	C	T	42975186	3	4	319	1	0	0	0	0	1	0	0	0	12395	913	32	2	690	2	PPP2R5D	6	42975186	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10840033	42975186	128139881	28	32118											
MEP1A	4224	broad.mit.edu	37	chr6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaggaacagaagtttcGctaccttttccagggcacaa	9	10	0	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)	p.R402H(1)		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)			CAGAAGTTTCGCTACCTTTTC	0.507																																						ENST00000230588.4																			1	Substitution - Missense(1)	p.R402H(1)	large_intestine(1)	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						c.(1204-1206)cGc>cAc		meprin A, alpha (PABA peptide hydrolase)							82	83	82					6																	46800871		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46800871G>A		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.1205G>A	6.37:g.46800871G>A	ENSP00000230588:p.Arg402His						p.R402H	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1214	+			402			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1205G>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254006	0.95336	.	.	ENSG00000112818	ENST00000230588	T	0.02301	4.35	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.87932	D	0	-21.1973	19.5623	0.95376	0.0:0.0:1.0:0.0	.	430;402	B7ZL91;Q16819	.;MEP1A_HUMAN	H	402	ENSP00000230588:R402H	ENSP00000230588:R402H	R	+	2	0	MEP1A	46908830	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	CGC		0.507	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		34	73	0	0	0	1	0	34	73					A	46800871	G	A	46800871	3	1	319	1	0	0	0	0	1	0	0	0	9475	1087	38	1	1247	1	MEP1A	6	46800871	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3825685	46800871	124314196	29	32119											
EEF1A1	1915	broad.mit.edu	37	chr6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-													ggagataccagcttcaaattCaccaacaccagcagcaacaa							TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_ENST00000331523.2_In_Frame_Del_p.G121del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.G121del|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121	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						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(361-366)gaa>g		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001651	inframe_deletion	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228912_74228914delCAC	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.362_364delGTG	6.37:g.74228912_74228914delCAC	ENSP00000339063:p.Gly121del		OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_In_Frame_Del_p.GE121del|EEF1A1_ENST00000331523.2_In_Frame_Del_p.GE121del|EEF1A1_ENST00000491404.1_5'UTR	p.GE121del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			3	1353_1355	-			121					P04719|P04720|Q6IQ15	In_Frame_Del	DEL	ENST00000316292.9	37	c.362_364delGTG	CCDS4980.1																																																																																				0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		11	31						11	31	---	---	---	---	-	74228914	CAC	-	74228912	7	5	319	1	0	1	0	1	0	0	0	0	4923	835	29	0	1044	0	EEF1A1	6	74228912	In_Frame_Del	DEL	CAC	TCGA-HT-A5RC-01A-11D-A289-08	27428041	74228912	96886155	30	32120											
TIAM2	26230	broad.mit.edu	37	chr6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccattaaacgaaaagCcaacagcaccaagagggaca	8	13	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	ENST00000461783.3	+	29	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170). {ECO:0000305}.	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)		AAACGAAAAGCCAACAGCACC	0.567																																						ENST00000461783.3																			0				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						c.(4915-4917)gCc>gGc		T-cell lymphoma invasion and metastasis 2							65	62	63					6																	155578065		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155578065C>G		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.4916C>G	6.37:g.155578065C>G	ENSP00000437188:p.Ala1639Gly					TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G	p.A1639G			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6189	+		Ovarian(120;0.196)	1639	A -> T (in Ref. 7; BAC86170).				B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4916C>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918198	0.52546	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08896	3.52;3.44;3.52;3.33;3.5;3.44;3.33;3.33;3.04	5.75	5.75	0.90469	.	0.226348	0.45126	D	0.000400	T	0.04272	0.0118	L	0.59436	1.845	0.28743	N	0.901843	P;P;P;P	0.43352	0.704;0.804;0.804;0.704	B;B;B;B	0.39152	0.081;0.292;0.292;0.152	T	0.35025	-0.9805	10	0.26408	T	0.33	.	11.837	0.52330	0.0:0.9135:0.0:0.0865	.	983;1668;1663;1639	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	G	1639;1885;1668;1639;1015;1663;1668;951;983;564	ENSP00000437188:A1639G;ENSP00000407746:A1668G;ENSP00000327315:A1639G;ENSP00000356142:A1015G;ENSP00000353528:A1663G;ENSP00000433348:A1668G;ENSP00000407183:A951G;ENSP00000435335:A983G;ENSP00000275246:A564G	ENSP00000275246:A564G	A	+	2	0	TIAM2	155619757	0.904000	0.30761	0.949000	0.38748	0.981000	0.71138	1.760000	0.38430	2.704000	0.92352	0.655000	0.94253	GCC		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		23	31	0	0	0	1	0	23	31					G	155578065	C	G	155578065	3	3	319	1	0	0	0	0	1	0	0	0	15888	739	26	4	5010	4	TIAM2	6	155578065	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	81349153	155578065	15537002	31	32121											
GLI3	2737	broad.mit.edu	37	chr7	42006178	42006178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccaccccagagaggtcGcttctgcccgggagaagcgt	13	14	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	ENST00000395925.3	-	15	2577	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	831					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|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)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S831S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			1	Substitution - coding silent(1)	p.S831S(1)	endometrium(1)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2491-2493)agC>agT		GLI family zinc finger 3							72	76	75					7																	42006178		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42006178G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2493C>T	7.37:g.42006178G>A						GLI3_ENST00000479210.1_5'UTR	p.S831S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	2577	-			831					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2493C>T	CCDS5465.1																																																																																				0.602	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		46	138	0	0	0	1	0	46	138					A	42006178	G	A	42006178	2	1	319	1	0	0	0	0	0	0	0	1	6439	1078	38	1		1	GLI3	7	42006178	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42006178	117132485	32	32122											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	12	11	2	2	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					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)	p.G598V(15)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	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						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		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.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		15	1970	+	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)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1305	1732	1	0	1.82951e-191	1	1.95147e-191	1305	1732					T	55233043	G	T	55233043	3	4	319	1	0	0	0	0	1	0	0	0	4967	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	13226865	55233043	103905620	33	32123											
ZNF679	168417	broad.mit.edu	37	chr7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgggatcccctggaagccGagaaatggtgagtgctgggt	16	9	0	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					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(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(31-33)cGa>cAa		zinc finger protein 679							45	37	39					7																	63709527		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63709527G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.32G>A	7.37:g.63709527G>A	ENSP00000416809:p.Arg11Gln					ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			2	301	+			11						Missense_Mutation	SNP	ENST00000421025.1	37	c.32G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	0.443	-0.897384	0.02472	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.05925	3.37;3.37	0.421	-0.769	0.11009	Krueppel-associated box (1);	.	.	.	.	T	0.02688	0.0081	N	0.16201	0.385	0.09310	N	1	P	0.40376	0.715	B	0.32928	0.155	T	0.43343	-0.9397	8	0.27082	T	0.32	.	.	.	.	.	11	Q8IYX0	ZN679_HUMAN	Q	11	ENSP00000416809:R11Q;ENSP00000255746:R11Q	ENSP00000255746:R11Q	R	+	2	0	ZNF679	63346962	0.004000	0.15560	0.004000	0.12327	0.004000	0.04260	-2.224000	0.01213	-0.490000	0.06707	-0.485000	0.04761	CGA		0.572	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		16	66	0	0	0	1	0	16	66					A	63709527	G	A	63709527	3	1	319	1	0	0	0	0	1	0	0	0	18083	1058	37	1	34	1	ZNF679	7	63709527	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8476484	63709527	95429136	34	32124											
ZAN	7455	broad.mit.edu	37	chr7	100349991	100349991	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaacccaccacc	2	20	1	2	rs560599163	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:100349991T>C	ENST00000348028.3	+	0	2428				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_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)		p.S755P(5)		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)			ACCCACCATCTCCCCAGAAAA	0.517													t|||	35	0.00698882	0.0038	0.0101	5008	,	,		14901	0.005		0.0129	False		,,,				2504	0.0051					ENST00000542585.1																			5	Substitution - Missense(5)	p.S755P(5)	endometrium(4)|NS(1)	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								zonadhesin (gene/pseudogene)							122	136	131					7																	100349991		1816	4060	5876			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349991T>C	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.100349991T>C						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2411	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	t	5.435	0.265377	0.10294	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;0.11;-0.03	4.24	0.21	0.15231	.	.	.	.	.	T	0.29716	0.0742	N	0.01140	-0.99	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.33940	T	0.23	.	7.9077	0.29771	0.0:0.5221:0.0:0.4779	.	755;755	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	755	ENSP00000445943:S755P;ENSP00000445091:S755P;ENSP00000444427:S755P	ENSP00000423579:S755P	S	+	1	0	ZAN	100187927	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.770000	0.00371	-0.086000	0.12550	-0.766000	0.03442	TCC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	172	0	0	0	1	0	10	172					C	100349991	T	C	100349991	1	2	319	0	1	0	0	0	0	0	0	0	17510	1551	54	3		3	ZAN	7	100349991	RNA	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08	36640464	100349991	58788672	35	32125											
PUS7	54517	broad.mit.edu	37	chr7	105142878	105142878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacctacttgccaaagccTttttcccagctgcgtggtag	9	13	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:105142878T>C	ENST00000356362.2	-	5	933	c.719A>G	c.(718-720)aAg>aGg	p.K240R	PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	240					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(718-720)aAg>aGg		pseudouridylate synthase 7 homolog (S. cerevisiae)							209	176	188					7																	105142878		2203	4300	6503	SO:0001583	missense	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105142878T>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.719A>G	7.37:g.105142878T>C	ENSP00000348722:p.Lys240Arg					PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			5	933	-			240					Q75MG4|Q9NX19	Missense_Mutation	SNP	ENST00000356362.2	37	c.719A>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685399	0.47991	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.46063	0.88;0.88	5.84	5.84	0.93424	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.31065	0.9	0.54753	D	0.999985	P;P	0.50617	0.868;0.937	B;P	0.46110	0.306;0.504	T	0.07829	-1.0752	10	0.12103	T	0.63	-22.3364	15.3919	0.74751	0.0:0.0:0.0:1.0	.	240;240	B3KY42;Q96PZ0	.;PUS7_HUMAN	R	240	ENSP00000348722:K240R;ENSP00000417402:K240R	ENSP00000348722:K240R	K	-	2	0	PUS7	104930114	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	4.740000	0.62087	2.232000	0.73038	0.533000	0.62120	AAG		0.537	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		4	171	0	0	0	1	0	4	171					C	105142878	T	C	105142878	3	2	319	1	0	0	0	0	1	0	0	0	12833	1609	56	3	1314	3	PUS7	7	105142878	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08	4792887	105142878	53995785	36	32126											
SLC13A1	6561	broad.mit.edu	37	chr7	122759134	122759134	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggataaatgagatactcaCcaatggagataatattggga	12	4	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	ENST00000194130.2	-	13	1552		c.e13+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.e13+1		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						99	98	98					7																	122759134		2203	4300	6503	SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122759134C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1512+1G>A	7.37:g.122759134C>T						SLC13A1_ENST00000539873.1_Splice_Site		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			13	1552	-								Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37		CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471982	0.84533	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5309	0.90992	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122546370	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.590000	0.82653	2.610000	0.88304	0.591000	0.81541	.		0.383	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	10	45	0	0	0	1	0	10	45					T	122759134	C	T	122759134	5	4	319	1	0	0	0	0	0	0	1	0	14391	521	18	2	286	2	SLC13A1	7	122759134	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17616256	122759134	36379529	37	32127											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				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						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				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						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	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.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	62	0	0	0	1	0	4	62					G	12957624	C	G	12957624	3	3	319	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		12957624	133406398	38	32128											
ZHX1	11244	broad.mit.edu	37	chr8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttactgatagatattcccGaagaagaaacttctgtagat	7	6	1	5	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	ENST00000522655.1	-	3	1061	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.S174L			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	174					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343													G|||	7	0.00139776	0.0	0.0043	5008	,	,		19799	0.0		0.004	False		,,,				2504	0.0					ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(520-522)tCg>tTg		zinc fingers and homeoboxes 1		G	LEU/SER,,LEU/SER	2,4404	2.1+/-5.4	0,2,2201	100	102	102		521,,521	5.2	1	8	dbSNP_126	102	13,8587	9.8+/-36.6	0,13,4287	yes	missense,intron,missense	ZHX1,ZHX1-C8ORF76	NM_001017926.2,NM_001204180.1,NM_007222.4	145,,145	0,15,6488	AA,AG,GG		0.1512,0.0454,0.1153	benign,,benign	174/874,,174/874	124267666	15,12991	2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267666G>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.521C>T	8.37:g.124267666G>A	ENSP00000428821:p.Ser174Leu					ZHX1_ENST00000522655.1_Missense_Mutation_p.S174L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L	p.S174L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1138	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		174					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.521C>T	CCDS6342.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	14.14	2.446451	0.43429	4.54E-4	0.001512	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.51817	0.69;0.69;0.69	5.21	5.21	0.72293	.	0.386727	0.24035	N	0.042156	T	0.39937	0.1097	.	.	.	0.35897	D	0.830109	P	0.39404	0.672	B	0.28139	0.086	T	0.56032	-0.8046	9	0.54805	T	0.06	-9.0435	18.7854	0.91952	0.0:0.0:1.0:0.0	rs35951597	174	Q9UKY1	ZHX1_HUMAN	L	174	ENSP00000297857:S174L;ENSP00000378938:S174L;ENSP00000428821:S174L	ENSP00000297857:S174L	S	-	2	0	ZHX1	124336847	0.992000	0.36948	0.986000	0.45419	0.943000	0.58893	6.494000	0.73661	2.429000	0.82318	0.505000	0.49811	TCG		0.343	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			14	59	0	0	0	1	0	14	59					A	124267666	G	A	124267666	3	1	319	1	0	0	0	0	1	0	0	0	17672	1059	37	1	2104	1	ZHX1	8	124267666	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	111310042	124267666	22096356	39	32129											
PPP3R2	116443	broad.mit.edu	37	chr9	104356877	104356877	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctggaagagctccccGttggaaatgtagccatcttt	10	11	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N112N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAGCTCCCCGTTGGAAATGT	0.542																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(334-336)aaC>aaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						133	121	125					9																	104356877		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356877G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15235C>T	9.37:g.104356877G>A						GRIN3A_ENST00000361820.3_Intron	p.N112N	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	406	-		Acute lymphoblastic leukemia(62;0.0527)	109			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.336C>T	CCDS6758.1																																																																																				0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			33	68	0	0	0	1	0	33	68					A	104356877	G	A	104356877	1	1	319	0	1	0	0	0	0	0	0	0	12401	1136	40	1		1	PPP3R2	9	104356877	Intron	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		104356877	36856554	40	32130											
CALML3	810	broad.mit.edu	37	chr10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggctgcatcaccacccGcgagctgggcacggtcatgc	14	15	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	ENST00000315238.1	+	1	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647																																					Colon(173;2070 2647 27580 52203)	ENST00000315238.1																			0				endometrium(3)|lung(2)	5						c.(91-93)cGc>cAc		calmodulin-like 3							65	53	57					10																	5567140		2203	4300	6503	SO:0001583	missense	810						calcium ion binding	g.chr10:5567140G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"EF-hand domain containing"	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.92G>A	10.37:g.5567140G>A	ENSP00000315299:p.Arg31His					RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	p.R31H	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN			1	217	+			31			EF-hand 1.		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	c.92G>A	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	6.380	0.438267	0.12104	.	.	ENSG00000178363	ENST00000315238	D	0.84660	-1.88	5.08	-3.77	0.04346	EF-hand-like domain (1);	0.914184	0.09043	N	0.857058	T	0.71771	0.3379	N	0.16201	0.385	0.25745	N	0.985111	B	0.06786	0.001	B	0.01281	0.0	T	0.58261	-0.7667	10	0.87932	D	0	-16.6004	11.3678	0.49681	0.8391:0.0:0.1609:0.0	.	31	P27482	CALL3_HUMAN	H	31	ENSP00000315299:R31H	ENSP00000315299:R31H	R	+	2	0	CALML3	5557140	0.867000	0.29959	0.789000	0.31954	0.017000	0.09413	0.554000	0.23407	-0.622000	0.05626	-1.058000	0.02302	CGC		0.647	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		18	22	0	0	0	1	0	18	22					A	5567140	G	A	5567140	3	1	319	1	0	0	0	0	1	0	0	0	2587	1087	38	1	94	1	CALML3	10	5567140	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		5567140	129967607	41	32131											
TRDMT1	1787	broad.mit.edu	37	chr10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaatatgtaagaagctattcGtccttgaatcagtcatatca	7	7	3	2	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	ENST00000377799.3	-	4	334	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	96	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GAAGCTATTCGTCCTTGAATC	0.343																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(286-288)aCg>aGg		tRNA aspartic acid methyltransferase 1							119	126	124					10																	17204201		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17204201G>C	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.287C>G	10.37:g.17204201G>C	ENSP00000367030:p.Thr96Arg					TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000412821.3_Intron	p.T96R	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			4	334	-			96					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.287C>G	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642967	0.87859	.	.	ENSG00000107614	ENST00000377799;ENST00000457442	T;T	0.40476	1.03;1.03	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.983	D;D;D	0.68353	0.957;0.944;0.928	T	0.65014	-0.6271	10	0.62326	D	0.03	-16.982	20.6593	0.99626	0.0:0.0:1.0:0.0	.	25;37;96	B7Z1Y7;E7EMI8;O14717	.;.;TRDMT_HUMAN	R	96;37	ENSP00000367030:T96R;ENSP00000412256:T37R	ENSP00000367030:T96R	T	-	2	0	TRDMT1	17244207	1.000000	0.71417	0.972000	0.41901	0.707000	0.40811	6.899000	0.75682	2.885000	0.99019	0.655000	0.94253	ACG		0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		33	34	0	0	0	1	0	33	34					C	17204201	G	C	17204201	3	2	319	1	0	0	0	0	1	0	0	0	16464	1145	40	4	920	4	TRDMT1	10	17204201	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11637061	17204201	118330546	42	32132											
CTNNA3	29119	broad.mit.edu	37	chr10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgattatcatccaacacAttcaatgagcttttgcttaa	4	8	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	ENST00000433211.2	-	13	1971	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	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						CATCCAACACATTCAATGAGC	0.338																																						ENST00000433211.1																			0				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						c.(1795-1797)aaT>aaG		catenin (cadherin-associated protein), alpha 3							148	141	143					10																	68040315		2203	4299	6502	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040315A>C	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.1797T>G	10.37:g.68040315A>C	ENSP00000389714:p.Asn599Lys					CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	p.N599K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			13	1971	-			599						Missense_Mutation	SNP	ENST00000433211.2	37	c.1797T>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	A	7.525	0.657444	0.14645	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.28069	1.63;1.63	5.54	1.4	0.22301	.	0.499372	0.18335	N	0.144371	T	0.04452	0.0122	N	0.00077	-2.24	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.18335	-1.0340	10	0.08179	T	0.78	-5.3396	3.8862	0.09099	0.643:0.0:0.1951:0.1619	.	599	Q9UI47	CTNA3_HUMAN	K	599	ENSP00000389714:N599K;ENSP00000362849:N599K	ENSP00000362849:N599K	N	-	3	2	CTNNA3	67710321	0.457000	0.25752	0.997000	0.53966	0.944000	0.59088	0.223000	0.17719	0.367000	0.24454	0.533000	0.62120	AAT		0.338	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		24	21	0	0	0	1	0	24	21					C	68040315	A	C	68040315	3	2	319	1	0	0	0	0	1	0	0	0	4014	214	8	5	914	5	CTNNA3	10	68040315	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	50836114	68040315	67494432	43	32133											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agccccccttggagcccccaGaagagccacagccccctttg	9	19	0	2	rs201819023	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													C|||	3	0.000599042	0.0008	0.0	5008	,	,		8750	0.002		0.0	False		,,,				2504	0.0					ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(214-216)tCt>tGt		keratin associated protein 5-1							69	86	81					11																	1606265		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1606265G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.215C>G	11.37:g.1606265G>C	ENSP00000371606:p.Ser72Cys					KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	p.S72C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	248	-		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)	72			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.215C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685544	0.14973	.	.	ENSG00000205869	ENST00000382171	T	0.04119	3.7	3.53	3.53	0.40419	.	.	.	.	.	T	0.01558	0.0050	N	0.00188	-1.89	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.72032	D	0.01	.	11.0665	0.47979	0.0:0.8095:0.1905:0.0	.	72	Q6L8H4	KRA51_HUMAN	C	72	ENSP00000371606:S72C	ENSP00000371606:S72C	S	-	2	0	KRTAP5-1	1562841	0.000000	0.05858	0.991000	0.47740	0.354000	0.29330	-0.178000	0.09782	0.634000	0.30469	-0.401000	0.06369	TCT		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		6	281	0	0	0	1	0	6	281					C	1606265	G	C	1606265	3	2	319	1	0	0	0	0	1	0	0	0	8558	942	33	4	625	4	KRTAP5-1	11	1606265	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		1606265	133400251	44	32134											
OR8J3	81168	broad.mit.edu	37	chr11	55904472	55904472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctatcatatgcgaagcGcaggtggaaaaggctttttt	11	7	1	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	ENST00000301529.1	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	241						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)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(721-723)tgC>tgT		olfactory receptor, family 8, subfamily J, member 3							115	107	110					11																	55904472		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904472G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.723C>T	11.37:g.55904472G>A							p.C241C	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	722	-	Esophageal squamous(21;0.00693)		241					Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.723C>T	CCDS31520.1																																																																																				0.388	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		25	39	0	0	0	1	0	25	39					A	55904472	G	A	55904472	2	1	319	1	0	0	0	0	0	0	0	1	11242	1079	38	1		1	OR8J3	11	55904472	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	54298207	55904472	79102044	45	32135											
GPR44	11251	broad.mit.edu	37	chr11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-													gagcgggcggtggaggaggtGcggcggcggcggctgcttcc							TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		2	4						2	4	---	---	---	---	-	60620169	GCG	-	60620167	7	5	319	1	0	1	0	1	0	0	0	0	6695	1306	46	0	162	0	GPR44	11	60620167	In_Frame_Del	DEL	GCG	TCGA-HT-A5RC-01A-11D-A289-08	4715695	60620167	74386349	46	32136											
CD163L1	283316	broad.mit.edu	37	chr12	7527057	7527057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagcagatgacccctgcGtcctccttgtgcctgcagtc	10	16	0	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	ENST00000313599.3	-	13	3447	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	CD163L1_ENST00000416109.2_Silent_p.D1140D|CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1130	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACCCCTGCGTCCTCCTTGT	0.567																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3388-3390)gaC>gaT		CD163 molecule-like 1							98	84	89					12																	7527057		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527057G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3390C>T	12.37:g.7527057G>A						CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000416109.2_Silent_p.D1140D	p.D1130D			Q9NR16	C163B_HUMAN			13	3447	-			1130			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3390C>T	CCDS8577.1																																																																																				0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		44	73	0	0	0	1	0	44	73					A	7527057	G	A	7527057	2	1	319	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CD163L1	12	7527057	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7527057	126324838	47	32137											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	18	9	0	0	rs534390661	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33	40	38					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	120	0	0	0	1	0	7	120					G	57112308	A	G	57112308	2	3	319	1	0	0	0	0	0	0	0	1	10133	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	49585251	57112308	76739587	48	32138											
GEFT	115557	broad.mit.edu	37	chr12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-													cctccagtctctccaactccAaaaacccctccctgccaagc							TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccafs	p.P563fs	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1687-1689)ccfs		Rho guanine nucleotide exchange factor (GEF) 25							106	119	115					12																	58010623		2203	4300	6503	SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010623delA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1689delA	12.37:g.58010623delA	ENSP00000286494:p.Pro563fs					ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	p.P563fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			15	2149	+			563					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Del	DEL	ENST00000286494.4	37	c.1689delA	CCDS8947.1																																																																																				0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		8	952						8	952	---	---	---	---	-	58010623	A	-	58010623	7	5	319	1	0	1	0	1	0	0	0	0	6328	117	5	0	1969	0	GEFT	12	58010623	Frame_Shift_Del	DEL	A	TCGA-HT-A5RC-01A-11D-A289-08	898315	58010623	75841272	49	32139											
GALNT4	8693	broad.mit.edu	37	chr12	89916851	89916854	+	Frame_Shift_Del	DEL	TTTG	TTTG	-													acagaattaaaccttatttcTttgtttgaagtatattcaaa					rs555881011		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:89916851_89916854delTTTG	ENST00000529983.2	-	1	1729_1732	c.1473_1476delCAAA	c.(1471-1476)aacaaafs	p.NK491fs	POC1B-GALNT4_ENST00000548729.1_Frame_Shift_Del_p.NK488fs|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.NK319fs|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000313546.3_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	491	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACCTTATTTCTTTGTTTGAAGTAT	0.387																																						ENST00000548729.1																			0											c.(1462-1467)aafs																																						SO:0001589	frameshift_variant	0							g.chr12:89916851_89916854delTTTG	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1473_1476delCAAA	12.37:g.89916855_89916858delTTTG	ENSP00000436604:p.Asn491fs					POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Frame_Shift_Del_p.NK491fs|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Frame_Shift_Del_p.NK319fs|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	p.NK488fs	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1766_1769	-								B2R775|B4DMX6|O00208	Frame_Shift_Del	DEL	ENST00000529983.2	37	c.1464_1467delCAAA	CCDS53817.1																																																																																				0.387	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		16	26						16	26	---	---	---	---	-	89916854	TTTG	-	89916851	7	5	319	1	0	1	0	1	0	0	0	0	6215	1606	56	0	264	0	GALNT4	12	89916851	Frame_Shift_Del	DEL	TTTG	TCGA-HT-A5RC-01A-11D-A289-08	31906228	89916851	43935044	50	32140											
KERA	11081	broad.mit.edu	37	chr12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgttctgtaggtcaagaaGggtcaggttctccagattgc	13	7	4	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	ENST00000266719.3	-	2	755	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	170					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(508-510)Ctt>Att		keratocan							117	112	114					12																	91449551		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449551G>T	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.508C>A	12.37:g.91449551G>T	ENSP00000266719:p.Leu170Ile						p.L170I	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	755	-			170						Missense_Mutation	SNP	ENST00000266719.3	37	c.508C>A	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770112	0.69992	.	.	ENSG00000139330	ENST00000266719	T	0.57436	0.4	6.08	5.19	0.71726	.	0.056051	0.64402	D	0.000001	T	0.51941	0.1704	N	0.21282	0.65	0.51233	D	0.999914	D	0.55385	0.971	D	0.64506	0.926	T	0.48603	-0.9021	10	0.22706	T	0.39	-21.1588	8.2402	0.31656	0.0719:0.0:0.5833:0.3448	.	170	O60938	KERA_HUMAN	I	170	ENSP00000266719:L170I	ENSP00000266719:L170I	L	-	1	0	KERA	89973682	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.450000	0.52957	1.582000	0.49881	0.655000	0.94253	CTT		0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		42	100	1	0	2.77807e-22	1	2.86768e-22	42	100					T	91449551	G	T	91449551	3	4	319	1	0	0	0	0	1	0	0	0	8143	1000	35	4	558	4	KERA	12	91449551	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	1532700	91449551	42402344	51	32141											
FAM71C	196472	broad.mit.edu	37	chr12	100043170	100043170	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattgtgattatacaatagaGatatgaatccaacatacctc	5	7	0	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(718-720)gaG>gaA		family with sequence similarity 71, member C							131	132	131					12																	100043170		2203	4300	6503	SO:0001819	synonymous_variant	196472							g.chr12:100043170G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.720G>A	12.37:g.100043170G>A						ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	p.E240E	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	2	1142	+			240					B2R6Y6	Silent	SNP	ENST00000324341.1	37	c.720G>A	CCDS9072.1																																																																																				0.413	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		32	59	0	0	0	1	0	32	59					A	100043170	G	A	100043170	2	1	319	1	0	0	0	0	0	0	0	1	5609	933	33	2		2	FAM71C	12	100043170	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8593619	100043170	33808725	52	32142											
HSPA2	3306	broad.mit.edu	37	chr14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcctcatcggcgacGccgccaagaaccaggtggcc	13	17	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	ENST00000394709.1	+	2	239	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Missense_Mutation_p.A55T			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(163-165)Gcc>Acc		heat shock 70kDa protein 2							99	73	82					14																	65007730		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007730G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.163G>A	14.37:g.65007730G>A	ENSP00000378199:p.Ala55Thr					HSPA2_ENST00000394709.1_Missense_Mutation_p.A55T|HSPA2_ENST00000554883.1_Intron	p.A55T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	545	+			55					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.163G>A	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733828	0.89482	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01076	5.37;5.37	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.08403	0.0209	M	0.93808	3.46	0.58432	D	0.999999	D	0.61080	0.989	P	0.53450	0.726	T	0.02031	-1.1226	10	0.87932	D	0	-6.5289	19.1451	0.93461	0.0:0.0:1.0:0.0	.	55	P54652	HSP72_HUMAN	T	55	ENSP00000378199:A55T;ENSP00000247207:A55T	ENSP00000247207:A55T	A	+	1	0	HSPA2	64077483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC		0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			22	72	0	0	0	1	0	22	72					A	65007730	G	A	65007730	3	1	319	1	0	0	0	0	1	0	0	0	7411	1087	38	1	165	1	HSPA2	14	65007730	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		65007730	42341810	53	32143											
TGM5	9333	broad.mit.edu	37	chr15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcttcaggatggccaCgctgcccgtccactccgcag	10	18	1	0	rs201451548	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	ENST00000220420.5	-	6	782	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	259					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGATGGCCACGCTGCCCGTC	0.567																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(775-777)Gtg>Ctg		transglutaminase 5	L-Glutamine(DB00130)						83	75	77					15																	43545044		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545044C>G	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.775G>C	15.37:g.43545044C>G	ENSP00000220420:p.Val259Leu					TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	p.V259L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	782	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	259					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.775G>C	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080153	0.76528	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.86366	-2.11;-2.11	4.64	4.64	0.57946	.	0.239522	0.35585	N	0.003117	D	0.92753	0.7696	M	0.85542	2.76	0.28502	N	0.913962	D;D	0.76494	0.974;0.999	P;D	0.75484	0.834;0.986	D	0.87590	0.2490	10	0.72032	D	0.01	-16.8399	9.0957	0.36638	0.0:0.898:0.0:0.102	.	177;259	O43548-2;O43548	.;TGM5_HUMAN	L	259;177;258	ENSP00000220420:V259L;ENSP00000220419:V177L	ENSP00000220420:V259L	V	-	1	0	TGM5	41332336	0.341000	0.24801	0.997000	0.53966	0.826000	0.46750	2.982000	0.49337	2.281000	0.76405	0.561000	0.74099	GTG		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		43	87	0	0	0	1	0	43	87					G	43545044	C	G	43545044	3	3	319	1	0	0	0	0	1	0	0	0	15830	536	19	4	1419	4	TGM5	15	43545044	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		43545044	58986348	54	32144											
ACSBG1	23205	broad.mit.edu	37	chr15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctggatgtggtagggcCgggccgccgcgttcatgttg	16	10	2	0	rs548841663		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	ENST00000258873.4	-	13	2229	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					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						GTGGTAGGGCCGGGCCGCCGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18659	0.0		0.0	False		,,,				2504	0.001					ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(2023-2025)cGg>cAg		acyl-CoA synthetase bubblegum family member 1							84	71	75					15																	78466000		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78466000C>T	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.2024G>A	15.37:g.78466000C>T	ENSP00000258873:p.Arg675Gln					ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	p.R675Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			13	2229	-			675					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.2024G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390704	0.42410	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10382	2.88;2.88	5.25	1.08	0.20341	.	0.456816	0.19804	N	0.105682	T	0.09642	0.0237	L	0.48260	1.515	0.28926	N	0.891863	B;B	0.10296	0.003;0.003	B;B	0.15870	0.004;0.014	T	0.14727	-1.0462	10	0.38643	T	0.18	-9.3566	8.8596	0.35249	0.0:0.6033:0.0:0.3967	.	671;675	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Q	675;433	ENSP00000258873:R675Q;ENSP00000439955:R433Q	ENSP00000258873:R675Q	R	-	2	0	ACSBG1	76253055	0.760000	0.28428	0.549000	0.28204	0.507000	0.33981	1.231000	0.32624	0.381000	0.24851	0.591000	0.81541	CGG		0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		34	48	0	0	0	1	0	34	48					T	78466000	C	T	78466000	3	4	319	1	0	0	0	0	1	0	0	0	173	652	23	1	158	1	ACSBG1	15	78466000	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34920956	78466000	24065392	55	32145											
LAT	27040	broad.mit.edu	37	chr16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccatcctggtcccctGcgtgctggggctcctgctgc	15	15	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	ENST00000360872.5	+	1	104	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	LAT_ENST00000395456.2_Missense_Mutation_p.C9Y|LAT_ENST00000564277.1_Missense_Mutation_p.C9Y|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR			O43561	LAT_HUMAN	linker for activation of T cells	9					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)				CTGGTCCCCTGCGTGCTGGGG	0.642																																						ENST00000395456.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(25-27)tGc>tAc		linker for activation of T cells							64	55	58					16																	28996764		2197	4300	6497	SO:0001583	missense	0				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28996764G>A	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.26G>A	16.37:g.28996764G>A	ENSP00000354119:p.Cys9Tyr					LAT_ENST00000564277.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000360872.5_Missense_Mutation_p.C9Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y	p.C9Y	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN			1	348	+		Hepatocellular(780;0.244)	9					B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	c.26G>A	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550497	0.45383	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	3.46	-6.91	0.01649	.	.	.	.	.	T	0.08358	0.0208	N	0.01874	-0.695	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	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26224	-1.0109	8	0.87932	D	0	5.3027	0.3229	0.00306	0.2299:0.1675:0.2524:0.3502	.	9;9;45;9;9	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	Y	45;9;9;9;9	.	ENSP00000346441:C9Y	C	+	2	0	LAT	28904265	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	-2.924000	0.00692	-1.762000	0.01308	0.462000	0.41574	TGC		0.642	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			26	52	0	0	0	1	0	26	52					A	28996764	G	A	28996764	3	1	319	1	0	0	0	0	1	0	0	0	8644	1319	46	2	140	2	LAT	16	28996764	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		28996764	61357989	56	32146											
PIK3R6	146850	broad.mit.edu	37	chr17	8741186	8741186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggaggtcctggctttcCgcctggaaaacaggagatca	13	11	1	1	rs149242502		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	ENST00000311434.9	-	5	431	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCTGGCTTTCCGCCTGGAAAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		21461	0.001		0.0	False		,,,				2504	0.0					ENST00000311434.9																			0											c.(190-192)gcG>gcA		phosphoinositide-3-kinase, regulatory subunit 6							113	118	116					17																	8741186		2116	4224	6340	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8741186C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.192G>A	17.37:g.8741186C>T						PIK3R6_ENST00000434064.2_5'UTR	p.A64A	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			5	431	-			64					Q658R3	Silent	SNP	ENST00000311434.9	37	c.192G>A																																																																																					0.582	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		27	56	0	0	0	1	0	27	56					T	8741186	C	T	8741186	2	4	319	1	0	0	0	0	0	0	0	1	11923	639	23	1		1	PIK3R6	17	8741186	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		8741186	72454024	57	32147											
MED13	9969	broad.mit.edu	37	chr17	60111221	60111221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttcttcagacatctcCttcaagcaacatgagatagg	7	9	4	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	ENST00000397786.2	-	5	817	c.741G>A	c.(739-741)aaG>aaA	p.K247K	Y_RNA_ENST00000363972.1_RNA|MED13_ENST00000580896.1_5'Flank	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	247					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						CAGACATCTCCTTCAAGCAAC	0.383																																						ENST00000397786.2																			0				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						c.(739-741)aaG>aaA		mediator complex subunit 13							155	139	144					17																	60111221		1869	4107	5976	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60111221C>T	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.741G>A	17.37:g.60111221C>T							p.K247K	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			5	817	-			247					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.741G>A	CCDS42366.1																																																																																				0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		6	55	0	0	0	1	0	6	55					T	60111221	C	T	60111221	2	4	319	1	0	0	0	0	0	0	0	1	9430	680	24	2		2	MED13	17	60111221	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	51370035	60111221	21083989	58	32148											
SETBP1	26040	broad.mit.edu	37	chr18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccggaggccattccgtccGacaccagcacaaagaaccgg	10	16	0	1	rs559186877		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	ENST00000282030.5	+	4	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	908			D -> N (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.			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)		CATTCCGTCCGACACCAGCAC	0.532									Schinzel-Giedion syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18813	0.0		0.0	False		,,,				2504	0.001					ENST00000282030.5																			0				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						c.(2722-2724)Gac>Aac		SET binding protein 1							40	35	37					18																	42532027		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532027G>A	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.2722G>A	18.37:g.42532027G>A	ENSP00000282030:p.Asp908Asn						p.D908N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3018	+			908					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2722G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105677	0.77096	.	.	ENSG00000152217	ENST00000282030	D	0.89875	-2.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	N	0.14661	0.345	0.50813	D	0.999891	D	0.89917	1.0	D	0.68621	0.959	D	0.90107	0.4189	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	908	Q9Y6X0	SETBP_HUMAN	N	908	ENSP00000282030:D908N	ENSP00000282030:D908N	D	+	1	0	SETBP1	40786025	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.400000	0.97290	2.941000	0.99782	0.655000	0.94253	GAC		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		17	33	0	0	0	1	0	17	33					A	42532027	G	A	42532027	3	1	319	1	0	0	0	0	1	0	0	0	14129	1058	37	1	2925	1	SETBP1	18	42532027	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42532027	35545221	59	32149											
SALL3	27164	broad.mit.edu	37	chr18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcgtgcacgaggacgCgcccgcgccgccccccgagg	15	18	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	ENST00000537592.2	+	2	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000575389.2_Missense_Mutation_p.A86V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	86					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)		CACGAGGACGCGCCCGCGCCG	0.726																																						ENST00000575389.2																			0				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						c.(256-258)gCg>gTg		spalt-like transcription factor 3							19	21	21					18																	76752248		2189	4293	6482	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752248C>T	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.257C>T	18.37:g.76752248C>T	ENSP00000441823:p.Ala86Val					SALL3_ENST00000537592.2_Missense_Mutation_p.A86V|SALL3_ENST00000536229.3_5'UTR	p.A86V			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	257	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	86					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.257C>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120540	0.20877	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08634	3.07	4.52	0.311	0.15831	.	0.238521	0.28219	N	0.016149	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45716	-0.9242	10	0.31617	T	0.26	-31.1755	7.7856	0.29091	0.4338:0.4355:0.0:0.1306	.	86	Q9BXA9	SALL3_HUMAN	V	86	ENSP00000441823:A86V	ENSP00000299466:A86V	A	+	2	0	SALL3	74853236	1.000000	0.71417	0.995000	0.50966	0.089000	0.18198	1.202000	0.32271	0.204000	0.20548	-0.397000	0.06425	GCG		0.726	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		10	20	0	0	0	1	0	10	20					T	76752248	C	T	76752248	3	4	319	1	0	0	0	0	1	0	0	0	13812	768	27	1	263	1	SALL3	18	76752248	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34220221	76752248	1325000	60	32150											
HCN2	610	broad.mit.edu	37	chr19	613254	613254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccccctgcaggagatcGtcaacttcaactgccggaag	9	16	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	ENST00000251287.2	+	6	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	531					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)		GCAGGAGATCGTCAACTTCAA	0.672																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(1591-1593)Gtc>Atc		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							36	32	34					19																	613254		2201	4297	6498	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:613254G>A	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.1591G>A	19.37:g.613254G>A	ENSP00000251287:p.Val531Ile						p.V531I	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		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)	6	1644	+		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)	531					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1591G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	6.501	0.460576	0.12342	.	.	ENSG00000099822	ENST00000251287	D	0.96427	-4.01	3.84	3.84	0.44239	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.89670	0.6782	N	0.12182	0.205	0.54753	D	0.99998	B	0.15473	0.013	B	0.09377	0.004	D	0.85087	0.0949	9	0.06625	T	0.88	.	15.1013	0.72279	0.0:0.0:1.0:0.0	.	531	Q9UL51	HCN2_HUMAN	I	531	ENSP00000251287:V531I	ENSP00000251287:V531I	V	+	1	0	HCN2	564254	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.931000	0.56529	1.860000	0.53959	0.493000	0.49557	GTC		0.672	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		17	32	0	0	0	1	0	17	32					A	613254	G	A	613254	3	1	319	1	0	0	0	0	1	0	0	0	6997	1145	40	1	1613	1	HCN2	19	613254	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		613254	58515729	61	32151											
KIAA1683	80726	broad.mit.edu	37	chr19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatggtctcgtaactgCctggtcataccttctggaca	10	11	4	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	ENST00000600328.3	-	3	1106	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_ENST00000392413.4_Missense_Mutation_p.A305T|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A259T			Q9H0B3	K1683_HUMAN	KIAA1683	305						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						CTCGTAACTGCCTGGTCATAC	0.567																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(913-915)Gca>Aca		KIAA1683							123	130	128					19																	18377437		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377437C>T	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.913G>A	19.37:g.18377437C>T	ENSP00000470780:p.Ala305Thr					KIAA1683_ENST00000600328.2_Missense_Mutation_p.A305T|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A259T	p.A305T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	1128	-			305					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.913G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401113	0.42613	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.04970	3.63;3.6;3.52	3.06	0.586	0.17434	.	0.944627	0.08652	N	0.913859	T	0.04227	0.0117	L	0.34521	1.04	0.09310	N	1	P;B	0.37330	0.59;0.107	B;B	0.31191	0.125;0.032	T	0.40175	-0.9577	10	0.41790	T	0.15	-4.6607	2.8455	0.05541	0.2605:0.5643:0.0:0.1752	.	305;305	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	305;305;259;304	ENSP00000376213:A305T;ENSP00000352774:A305T;ENSP00000404501:A259T	ENSP00000351198:A304T	A	-	1	0	KIAA1683	18238437	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.098000	0.11024	0.213000	0.20722	0.467000	0.42956	GCA		0.567	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			41	138	0	0	0	1	0	41	138					T	18377437	C	T	18377437	3	4	319	1	0	0	0	0	1	0	0	0	8251	739	26	2	3198	2	KIAA1683	19	18377437	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17764183	18377437	40751546	62	32152											
TMEM91	641649	broad.mit.edu	37	chr19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccaagggggacatccAgggggcaggggccgcctccc	18	13	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000436170.2_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	131					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706																																						ENST00000392002.2																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(391-393)cAg>cGg		transmembrane protein 91							28	33	31					19																	41889651		2042	4165	6207	SO:0001583	missense	641649							g.chr19:41889651A>G	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.392A>G	19.37:g.41889651A>G	ENSP00000375859:p.Gln131Arg					TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000356385.4_3'UTR|BCKDHA_ENST00000595085.1_Intron	p.Q131R	NM_001098821.1	NP_001092291.1					4	1052	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.392A>G	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123346	0.37436	.	.	ENSG00000142046	ENST00000392002	D	0.85702	-2.02	3.67	1.59	0.23543	.	.	.	.	.	T	0.72112	0.3420	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.56739	-0.7929	9	0.13108	T	0.6	.	4.1908	0.10419	0.6096:0.1806:0.2098:0.0	.	131	Q6ZNR0	TMM91_HUMAN	R	131	ENSP00000375859:Q131R	ENSP00000375859:Q131R	Q	+	2	0	TMEM91	46581491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.544000	0.45761	0.615000	0.30124	0.459000	0.35465	CAG		0.706	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			5	64	0	0	0	1	0	5	64					G	41889651	A	G	41889651	3	3	319	1	0	0	0	0	1	0	0	0	16217	188	7	3	466	3	TMEM91	19	41889651	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	23512214	41889651	17239332	63	32153											
MYH7B	57644	broad.mit.edu	37	chr20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctacaacgacatgctgCgcagtaagggccgcctggac	12	14	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	ENST00000262873.7	+	6	714	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	166	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(622-624)Cgc>Tgc		myosin, heavy chain 7B, cardiac muscle, beta							46	52	50					20																	33568534		2071	4196	6267	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33568534C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.622C>T	20.37:g.33568534C>T	ENSP00000262873:p.Arg208Cys					MYH7B_ENST00000481922.1_3'UTR	p.R208C	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		6	714	+			166			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.622C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901490	0.92035	.	.	ENSG00000078814	ENST00000262873	D	0.88277	-2.36	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.000000	0.38164	N	0.001796	D	0.95284	0.8470	H	0.96518	3.835	0.58432	D	0.999999	D	0.71674	0.998	P	0.54965	0.765	D	0.96907	0.9664	10	0.72032	D	0.01	.	17.6559	0.88177	0.0:1.0:0.0:0.0	.	166	A7E2Y1	MYH7B_HUMAN	C	208	ENSP00000262873:R208C	ENSP00000262873:R208C	R	+	1	0	MYH7B	33032195	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.755000	0.55197	2.472000	0.83506	0.655000	0.94253	CGC		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		41	86	0	0	0	1	0	41	86					T	33568534	C	T	33568534	3	4	319	1	0	0	0	0	1	0	0	0	10040	768	27	1	644	1	MYH7B	20	33568534	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		33568534	29456986	64	32154											
SFRS15	57466	broad.mit.edu	37	chr21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatgagaccgggccgggCgccaagaagaccagtagatg	17	9	0	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:33044602C>T	ENST00000286835.7	-	20	2936	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T|SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	852						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						CCGGGCCGGGCGCCAAGAAGA	0.562																																						ENST00000286835.7																			0				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						c.(2554-2556)Gcc>Acc		SR-related CTD-associated factor 4							40	44	43					21																	33044602		2202	4298	6500	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044602C>T	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.2554G>A	21.37:g.33044602C>T	ENSP00000286835:p.Ala852Thr					SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T|SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T	p.A852T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	2936	-			852					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2554G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545734	0.45280	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.51325	0.84;0.83;0.71	5.13	4.25	0.50352	.	0.098933	0.44688	N	0.000435	T	0.24470	0.0593	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.40515	0.597;0.719;0.597	B;B;B	0.26310	0.031;0.068;0.031	T	0.06232	-1.0838	10	0.21540	T	0.41	-8.7758	13.7443	0.62865	0.0:0.9261:0.0:0.0739	.	837;830;852	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	T	837;852;830	ENSP00000402377:A837T;ENSP00000286835:A852T;ENSP00000382703:A830T	ENSP00000286835:A852T	A	-	1	0	SCAF4	31966473	1.000000	0.71417	0.853000	0.33588	0.986000	0.74619	5.083000	0.64456	1.396000	0.46663	0.555000	0.69702	GCC		0.562	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		31	61	0	0	0	1	0	31	61					T	33044602	C	T	33044602	3	4	319	1	0	0	0	0	1	0	0	0	14171	768	27	1	893	1	SFRS15	21	33044602	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		33044602	15085293	65	32155											
SYN3	8224	broad.mit.edu	37	chr22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtaggttttggccatggCgaccacgctggtgatgtcct	15	10	0	1	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	ENST00000358763.2	-	8	1065	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	275	C; actin-binding and synaptic-vesicle binding.				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						TTGGCCATGGCGACCACGCTG	0.542																																						ENST00000358763.2																			0				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						c.(823-825)Gcc>Acc		synapsin III		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	217	159	179		820,823,823	5.7	1	22	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	274/580,275/581,275/445	32937651	1,13005	2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32937651C>T	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.823G>A	22.37:g.32937651C>T	ENSP00000351614:p.Ala275Thr					SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			8	1065	-			275			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.823G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886504	0.91814	0.0	1.16E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.73864	-0.3848	10	0.72032	D	0.01	-6.5177	19.88	0.96892	0.0:1.0:0.0:0.0	.	274;275;275	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	T	275	ENSP00000351614:A275T;ENSP00000330219:A275T	ENSP00000330219:A275T	A	-	1	0	SYN3	31267651	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	GCC		0.542	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	29	0	0	0	1	0	15	29					T	32937651	C	T	32937651	3	4	319	1	0	0	0	0	1	0	0	0	15439	768	27	1	947	1	SYN3	22	32937651	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		32937651	18366915	66	32156											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471260	37471260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagttgatggtgatcccGgccgtggccaccacggggat	16	10	0	3	rs572632950	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	ENST00000346753.3	-	11	1400	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	TMPRSS6_ENST00000381792.2_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A|TMPRSS6_ENST00000406725.1_Silent_p.A419A	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	428	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						TGGTGATCCCGGCCGTGGCCA	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17604	0.0		0.0	False		,,,				2504	0.001					ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1255-1257)gcC>gcT		transmembrane protease, serine 6							61	64	63					22																	37471260		2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37471260G>A	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.1284C>T	22.37:g.37471260G>A						TMPRSS6_ENST00000406725.1_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A|TMPRSS6_ENST00000346753.3_Silent_p.A428A	p.A419A			Q8IU80	TMPS6_HUMAN			11	1397	-			428			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.1257C>T	CCDS13941.1																																																																																				0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		50	78	0	0	0	1	0	50	78					A	37471260	G	A	37471260	2	1	319	1	0	0	0	0	0	0	0	1	16248	1103	39	1		1	TMPRSS6	22	37471260	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	4533609	37471260	13833306	67	32157											
CD99	4267	broad.mit.edu	37	chrX	2656284	2656284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccaccggaatgccaaCgcagagccagctggtaagaa	13	11	0	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:2656284C>T	ENST00000381192.3	+	9	701	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CD99_ENST00000381187.3_Silent_p.N157N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	173			N -> I (in dbSNP:rs4717).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGAATGCCAACGCAGAGCCAG	0.527																																						ENST00000381192.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(517-519)aaC>aaT		CD99 molecule		C	,	1,4405		0,1,2202	353	331	338		471,519	0.1	0	X		338	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	CD99	NM_001122898.1,NM_002414.3	,	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	,	157/170,173/186	2656284	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2656284C>T	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"Pseudoautosomal regions / PAR1", "CD molecules"	7082	protein-coding gene	gene with protein product		313470, 450000	"antigen identified by monoclonal antibodies 12E7, F21 and O13", "CD99 antigen"	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.519C>T	X.37:g.2656284C>T						CD99_ENST00000381187.3_Silent_p.N157N	p.N173N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN			9	701	+			173		N -> I (in dbSNP:rs4717).			A6NIW1|O00518|Q6ICV7	Silent	SNP	ENST00000381192.3	37	c.519C>T	CCDS14119.1	.	.	.	.	.	.	.	.	.	.	C	0.649	-0.810257	0.02798	2.27E-4	0.0	ENSG00000002586	ENST00000381177	.	.	.	1.08	0.0756	0.14399	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37888	-0.9686	5	0.87932	D	0	.	4.5958	0.12329	0.0:0.5894:0.4106:0.0	.	.	.	.	C	72	.	ENSP00000370570:R72C	R	+	1	0	CD99	2666284	0.000000	0.05858	0.038000	0.18304	0.088000	0.18126	-1.480000	0.02325	-0.030000	0.13804	0.429000	0.28392	CGC		0.527	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		6	219	0	0	0	1	0	6	219					T	2656284	C	T	2656284	2	4	319	1	0	0	0	0	0	0	0	1	3050	535	19	1		1	CD99	23	2656284	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		2656284	152614276	68	32158											
MID1	4281	broad.mit.edu	37	chrX	10534972	10534972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagctgccacctgatgatCgcggtgccgcccaaccagtt	10	15	0	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N|MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	206					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(616-618)Gat>Aat		midline 1 (Opitz/BBB syndrome)							104	83	90					X																	10534972		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10534972C>T	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.616G>A	X.37:g.10534972C>T	ENSP00000312678:p.Asp206Asn					MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N	p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			2	1016	-			206					B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.616G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975322	0.74360	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.64	5.64	0.86602	Zinc finger, B-box (3);	0.043334	0.85682	D	0.000000	T	0.38161	0.1030	N	0.24115	0.695	0.80722	D	1	P;B;B	0.38195	0.622;0.369;0.096	B;B;B	0.33750	0.169;0.093;0.046	T	0.21484	-1.0244	10	0.12430	T	0.62	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	206;206;206	C9J453;O15344-2;O15344	.;.;TRI18_HUMAN	N	206	ENSP00000414521:D206N;ENSP00000312678:D206N;ENSP00000370162:D206N;ENSP00000370156:D206N;ENSP00000370164:D206N;ENSP00000370157:D206N;ENSP00000370159:D206N;ENSP00000391154:D206N	ENSP00000312678:D206N	D	-	1	0	MID1	10494972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAT		0.488	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			25	57	0	0	0	1	0	25	57					T	10534972	C	T	10534972	3	4	319	1	0	0	0	0	1	0	0	0	9576	884	31	1	1423	1	MID1	23	10534972	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	7878688	10534972	144735588	69	32159											
GPR64	10149	broad.mit.edu	37	chrX	19031906	19031906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggggtgccggagacatGggtttggggcataggggaag	22	4	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	ENST00000379869.3	-	16	1160	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000354791.3_Missense_Mutation_p.H317Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y|GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	333					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)					CCGGAGACATGGGTTTGGGGC	0.582																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(949-951)Cat>Tat		G protein-coupled receptor 64							153	135	141					X																	19031906		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19031906G>A	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.997C>T	X.37:g.19031906G>A	ENSP00000369198:p.His333Tyr					GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000379869.3_Missense_Mutation_p.H333Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y	p.H317Y			Q8IZP9	GPR64_HUMAN			15	1190	-	Hepatocellular(33;0.183)		333					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.949C>T	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784844	0.31593	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.62;1.62;1.63;1.62;1.66;1.62;1.66;1.66;1.5	5.49	-6.6	0.01824	.	1.186030	0.06152	N	0.674282	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.31485	0.261;0.325;0.205;0.325;0.325;0.205;0.205;0.325;0.205;0.219;0.13	B;B;B;B;B;B;B;B;B;B;B	0.35655	0.04;0.207;0.207;0.207;0.207;0.207;0.207;0.207;0.207;0.102;0.102	T	0.41142	-0.9525	10	0.52906	T	0.07	.	9.3123	0.37912	0.0:0.3562:0.5016:0.1422	.	303;295;303;309;317;333;311;319;330;333;317	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	333;317;317;309;303;333;311;330;319;303	ENSP00000369202:H333Y;ENSP00000369207:H317Y;ENSP00000346845:H317Y;ENSP00000369205:H309Y;ENSP00000350152:H303Y;ENSP00000369198:H333Y;ENSP00000353421:H311Y;ENSP00000350680:H330Y;ENSP00000349015:H319Y;ENSP00000344972:H303Y	ENSP00000344972:H303Y	H	-	1	0	GPR64	18941827	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.830000	0.04410	-1.632000	0.01541	0.529000	0.55759	CAT		0.582	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			88	168	0	0	0	1	0	88	168					A	19031906	G	A	19031906	3	1	319	1	0	0	0	0	1	0	0	0	6705	1348	47	2	2112	2	GPR64	23	19031906	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8496934	19031906	136238654	70	32160											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686253	125686253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgttacacttggtgccGcacaccacctgcctggagtt	11	13	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(337-339)tgC>tgT		DDB1 and CUL4 associated factor 12-like 1							112	85	94					X																	125686253		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686253G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.339C>T	X.37:g.125686253G>A							p.C113C	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	581	-			113					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.339C>T	CCDS14610.1																																																																																				0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		4	124	0	0	0	1	0	4	124					A	125686253	G	A	125686253	2	1	319	1	0	0	0	0	0	0	0	1	4264	1079	38	1		1	DCAF12L1	23	125686253	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	106654347	125686253	29584307	71	32161											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	12	8	3	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)cGt>cAt		paraneoplastic Ma antigen family member 5							43	44	43					X																	152159280		2203	4298	6501	SO:0001583	missense	114824				apoptosis			g.chrX:152159280C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His					PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1301	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.863G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		42	91	0	0	0	1	0	42	91					T	152159280	C	T	152159280	3	4	319	1	0	0	0	0	1	0	0	0	12156	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	26473027	152159280	3111280	72	32162											
RAVER2	55225	broad.mit.edu	37	chr1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcctgcatttttacatttGaataaagcacatcaggtaca	5	9	2	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:65268729G>T	ENST00000294428.3	+	6	1254	c.1176G>T	c.(1174-1176)ttG>ttT	p.L392F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	392						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323																																						ENST00000294428.3																			1	Substitution - Missense(1)	p.L392F(1)	breast(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1174-1176)ttG>ttT		ribonucleoprotein, PTB-binding 2							104	99	100					1																	65268729		1848	4103	5951	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65268729G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1176G>T	1.37:g.65268729G>T	ENSP00000294428:p.Leu392Phe					RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F|RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F	p.L392F			Q9HCJ3	RAVR2_HUMAN			6	1254	+			392					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1176G>T		.	.	.	.	.	.	.	.	.	.	G	7.347	0.622122	0.14193	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.47528	0.9;0.84	5.67	2.72	0.32119	.	0.279835	0.34200	N	0.004172	T	0.17109	0.0411	L	0.31752	0.955	0.38976	D	0.958851	B;B	0.24368	0.061;0.102	B;B	0.27380	0.036;0.079	T	0.03910	-1.0993	10	0.29301	T	0.29	-15.093	9.3352	0.38045	0.0746:0.2834:0.642:0.0	.	392;392	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	392;392;98	ENSP00000360112:L392F;ENSP00000294428:L392F	ENSP00000294428:L392F	L	+	3	2	RAVER2	65041317	1.000000	0.71417	0.804000	0.32291	0.003000	0.03518	3.148000	0.50647	0.303000	0.22785	-0.179000	0.13096	TTG		0.323	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		10	54	1	0	7.03913e-09	1	7.51636e-09	10	54					T	65268729	G	T	65268729	3	4	320	1	0	0	0	0	1	0	0	0	13095	1281	45	4	1198	4	RAVER2	1	65268729	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		65268729	183981892	1	32163											
SLC35D1	23169	broad.mit.edu	37	chr1	67517761	67517761	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagaggtagtggaaacGtctagaaaatttaaaaaggg	12	2	1	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:67517761G>A	ENST00000235345.5	-	4	411	c.326C>T	c.(325-327)aCg>aTg	p.T109M	SLC35D1_ENST00000506472.2_Splice_Site_p.T30M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	109					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						TAGTGGAAACGTCTAGAAAAT	0.299																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.e4-1		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						64	69	67					1																	67517761		2202	4294	6496	SO:0001630	splice_region_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67517761G>A	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.325-1C>T	1.37:g.67517761G>A						SLC35D1_ENST00000506472.2_Splice_Site_p.T30_splice	p.T109_splice	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			4	411	-			109					A8K185|B7Z3X2|Q52LU5|Q92548	Splice_Site	SNP	ENST00000235345.5	37	c.324_splice	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521092	0.44866	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.64085	-0.08;0.34	5.55	5.55	0.83447	.	0.044496	0.85682	D	0.000000	T	0.38214	0.1032	L	0.31926	0.97	0.58432	D	0.999999	B;B	0.28880	0.226;0.226	B;B	0.17433	0.018;0.011	T	0.26292	-1.0107	10	0.32370	T	0.25	-17.337	18.2671	0.90055	0.0:0.0:1.0:0.0	.	30;109	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	M	109;30	ENSP00000235345:T109M;ENSP00000445189:T30M	ENSP00000235345:T109M	T	-	2	0	SLC35D1	67290349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.061000	0.57485	2.623000	0.88846	0.585000	0.79938	ACG		0.299	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139	Missense_Mutation	22	32	0	0	0	1	0	22	32					A	67517761	G	A	67517761	5	1	320	1	0	0	0	0	0	0	1	0	14581	1159	40	1	777	1	SLC35D1	1	67517761	Splice_Site	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2249032	67517761	181732860	2	32164											
CRTC2	200186	broad.mit.edu	37	chr1	153924630	153924630	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtccaggggggtgggCagtggtgggggaaagtgcag	23	5	1	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:153924630C>A	ENST00000368633.1	-	10	988	c.861G>T	c.(859-861)ctG>ctT	p.L287L	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	287					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGGTGGGCAGTGGTGGGG	0.612																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(859-861)ctG>ctT		CREB regulated transcription coactivator 2							71	75	74					1																	153924630		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924630C>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.861G>T	1.37:g.153924630C>A						CRTC2_ENST00000368630.3_Intron	p.L287L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	988	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		287					Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.861G>T	CCDS30875.1																																																																																				0.612	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		4	97	1	0	0.00909568	1	0.00924238	4	97					A	153924630	C	A	153924630	2	1	320	1	0	0	0	0	0	0	0	1	3900	697	25	4		4	CRTC2	1	153924630	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	86406869	153924630	95325991	3	32165											
AQP10	89872	broad.mit.edu	37	chr1	154295506	154295506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatgtgcatcgttggacGcctcccctgggtcaagctcc	12	15	1	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:154295506G>A	ENST00000324978.3	+	3	321	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.R94H	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	94					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCGTTGGACGCCTCCCCTGG	0.532																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(280-282)cGc>cAc		aquaporin 10							143	133	136					1																	154295506		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295506G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.281G>A	1.37:g.154295506G>A	ENSP00000318355:p.Arg94His					AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R94H	p.R94H			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	317	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		94					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.281G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692803	0.48202	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85702	-2.02;-2.02	5.04	3.17	0.36434	Aquaporin-like (2);	0.056466	0.64402	N	0.000002	T	0.67878	0.2940	L	0.54965	1.715	0.31293	N	0.689225	B;B	0.31383	0.321;0.141	B;B	0.29663	0.105;0.019	T	0.61758	-0.6997	10	0.49607	T	0.09	.	8.6313	0.33922	0.251:0.0:0.749:0.0	.	94;94	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	H	94	ENSP00000318355:R94H;ENSP00000420341:R94H	ENSP00000318355:R94H	R	+	2	0	AQP10	152562130	0.014000	0.17966	0.978000	0.43139	0.956000	0.61745	2.016000	0.40971	0.728000	0.32382	0.555000	0.69702	CGC		0.532	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		9	82	0	0	0	1	0	9	82					A	154295506	G	A	154295506	3	1	320	1	0	0	0	0	1	0	0	0	822	1087	38	1	291	1	AQP10	1	154295506	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	370876	154295506	94955115	4	32166											
APOB	338	broad.mit.edu	37	chr2	21230419	21230419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctccataatgttctcGttgtttccagcagagaaatt	9	9	1	1	rs72653101	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:21230419G>A	ENST00000233242.1	-	26	9448	c.9321C>T	c.(9319-9321)aaC>aaT	p.N3107N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3107					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)					TAATGTTCTCGTTGTTTCCAG	0.403													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19889	0.001		0.001	False		,,,				2504	0.0					ENST00000233242.1																			0				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						c.(9319-9321)aaC>aaT		apolipoprotein B	Atorvastatin(DB01076)						102	104	104					2																	21230419		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230419G>A	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.9321C>T	2.37:g.21230419G>A							p.N3107N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9448	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3107					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.9321C>T	CCDS1703.1																																																																																				0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			33	46	0	0	0	1	0	33	46					A	21230419	G	A	21230419	2	1	320	1	0	0	0	0	0	0	0	1	785	1136	40	1		1	APOB	2	21230419	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		21230419	221968954	5	32167											
WDR54	84058	broad.mit.edu	37	chr2	74652340	74652340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggccatctgcgccctGgacctggcttctgaggtggg	16	14	2	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:74652340G>A	ENST00000348227.4	+	8	862	c.774G>A	c.(772-774)ctG>ctA	p.L258L	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Silent_p.L206L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	258										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCGCCCTGGACCTGGCTT	0.527																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(772-774)ctG>ctA		WD repeat domain 54							96	95	96					2																	74652340		2203	4300	6503	SO:0001819	synonymous_variant	84058							g.chr2:74652340G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.774G>A	2.37:g.74652340G>A						WDR54_ENST00000409791.1_Silent_p.L206L|WDR54_ENST00000461531.1_3'UTR	p.L258L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			8	862	+			258					D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.774G>A	CCDS1940.1																																																																																				0.527	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		34	61	0	0	0	1	0	34	61					A	74652340	G	A	74652340	2	1	320	1	0	0	0	0	0	0	0	1	17303	1335	47	2		2	WDR54	2	74652340	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	53421921	74652340	168547033	6	32168											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			9	26	0	0	0	1	0	9	26					T	209113112	C	T	209113112	3	4	320	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	134460772	209113112	34086261	7	32169											
ZNF385D	79750	broad.mit.edu	37	chr3	21606071	21606071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaacttacatcagAattaaatctcaactggcaaa	4	7	2	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:21606071A>G	ENST00000281523.2	-	3	789	c.271T>C	c.(271-273)Tct>Cct	p.S91P	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	91						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						CTTACATCAGAATTAAATCTC	0.343																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(271-273)Tct>Cct		zinc finger protein 385D							123	122	122					3																	21606071		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606071A>G	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.271T>C	3.37:g.21606071A>G	ENSP00000281523:p.Ser91Pro					ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	p.S91P	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			3	789	-			91						Missense_Mutation	SNP	ENST00000281523.2	37	c.271T>C	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680883	0.88542	.	.	ENSG00000151789	ENST00000281523	T	0.42131	0.98	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.77103	2.36	0.49483	D	0.999798	D	0.76494	0.999	D	0.85130	0.997	T	0.70753	-0.4786	10	0.72032	D	0.01	-1.1591	16.0241	0.80528	1.0:0.0:0.0:0.0	.	91	Q9H6B1	Z385D_HUMAN	P	91	ENSP00000281523:S91P	ENSP00000281523:S91P	S	-	1	0	ZNF385D	21581075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.336000	0.96533	2.193000	0.70182	0.459000	0.35465	TCT		0.343	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		3	38	0	0	0	1	0	3	38					G	21606071	A	G	21606071	3	3	320	1	0	0	0	0	1	0	0	0	17875	246	9	3	940	3	ZNF385D	3	21606071	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		21606071	176416359	8	32170											
SMARCC1	6599	broad.mit.edu	37	chr3	47704025	47704025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgcattcatcctgagTacgacttccaacatgttccg	9	11	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:47704025T>C	ENST00000254480.5	-	20	2076	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	653	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|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)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCATCCTGAGTACGACTTCCA	0.458																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1957-1959)Act>Gct		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							112	100	104					3																	47704025		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47704025T>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1957A>G	3.37:g.47704025T>C	ENSP00000254480:p.Thr653Ala					SMARCC1_ENST00000425518.1_5'UTR	p.T653A	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2076	-			653			SANT.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1957A>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050501	0.75960	.	.	ENSG00000173473	ENST00000254480	T	0.60548	0.18	5.04	3.85	0.44370	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.048997	0.85682	D	0.000000	T	0.73118	0.3546	M	0.92459	3.31	0.80722	D	1	P	0.36171	0.541	P	0.46885	0.53	T	0.76069	-0.3094	10	0.87932	D	0	-21.8694	10.5888	0.45298	0.1445:0.0:0.0:0.8555	.	653	Q92922	SMRC1_HUMAN	A	653	ENSP00000254480:T653A	ENSP00000254480:T653A	T	-	1	0	SMARCC1	47679029	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	7.844000	0.86867	0.832000	0.34804	-0.468000	0.05107	ACT		0.458	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			3	37	0	0	0	1	0	3	37					C	47704025	T	C	47704025	3	2	320	1	0	0	0	0	1	0	0	0	14775	1638	57	3	1396	3	SMARCC1	3	47704025	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	26097954	47704025	150318405	9	32171											
TMEM129	92305	broad.mit.edu	37	chr4	1722422	1722422	+	Frame_Shift_Del	DEL	A	A	-													ggcgcaagtggaagggcacgAaggcggcgtcctcgctgccc							TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:1722422delA	ENST00000382936.3	-	1	636	c.143delT	c.(142-144)ttcfs	p.F48fs	TMEM129_ENST00000536901.1_Frame_Shift_Del_p.F48fs|TACC3_ENST00000313288.4_5'Flank|TMEM129_ENST00000303277.2_Frame_Shift_Del_p.F48fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	48					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAAGGGCACGAAGGCGGCGTC	0.711																																						ENST00000382936.3																			0				lung(2)	2						c.(142-144)tcfs		transmembrane protein 129							18	16	16					4																	1722422		2099	4162	6261	SO:0001589	frameshift_variant	92305					integral to membrane		g.chr4:1722422delA	BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"transmembrane protein 129"			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.143delT	4.37:g.1722422delA	ENSP00000372394:p.Phe48fs					TMEM129_ENST00000536901.1_Frame_Shift_Del_p.F48fs|TMEM129_ENST00000303277.2_Frame_Shift_Del_p.F48fs	p.F48fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)		1	636	-			48					A6NH49|A6NI98|D3DVP8	Frame_Shift_Del	DEL	ENST00000382936.3	37	c.143delT	CCDS46998.1																																																																																				0.711	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350724.1	NM_138385		2	4						2	4	---	---	---	---	-	1722422	A	-	1722422	7	5	320	1	0	1	0	1	0	0	0	0	16039	246	9	0	961	0	TMEM129	4	1722422	Frame_Shift_Del	DEL	A	TCGA-HT-A614-01A-11D-A29Q-08		1722422	189431854	10	32172											
CCDC149	91050	broad.mit.edu	37	chr4	24875312	24875312	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagtcttacctgtttcctTttttcaggaggaagtgatgg	10	6	2	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:24875312T>C	ENST00000389609.4	-	4	398	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CCDC149_ENST00000504487.1_Silent_p.K85K|CCDC149_ENST00000502801.1_Silent_p.K85K|CCDC149_ENST00000428116.2_Silent_p.K30K	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	30										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTTCCTTTTTTCAGGAG	0.343																																						ENST00000504487.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(253-255)aaA>aaG		coiled-coil domain containing 149							76	80	78					4																	24875312		2203	4300	6503	SO:0001819	synonymous_variant	91050							g.chr4:24875312T>C		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.255A>G	4.37:g.24875312T>C						CCDC149_ENST00000502801.1_Silent_p.K85K|CCDC149_ENST00000428116.2_Silent_p.K30K|CCDC149_ENST00000389609.4_Silent_p.K85K	p.K85K	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN			3	261	-		Breast(46;0.173)	85					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	c.255A>G	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	T	9.298	1.052289	0.19827	.	.	ENSG00000181982	ENST00000382116	.	.	.	5.4	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9322	0.35677	0.0:0.8104:0.0:0.1896	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC149	24484410	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.806000	0.27126	1.325000	0.45301	0.519000	0.50382	.		0.343	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463		7	9	0	0	0	1	0	7	9					C	24875312	T	C	24875312	2	2	320	1	0	0	0	0	0	0	0	1	2783	1838	64	3		3	CCDC149	4	24875312	Silent	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	23152890	24875312	166278964	11	32173											
YTHDC1	91746	broad.mit.edu	37	chr4	69189859	69189859	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaattaaggccacaaacctGtccatcacgtccgatcttta	5	13	3	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:69189859G>A	ENST00000344157.4	-	10	1767	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q478*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q460*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	478	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCACAAACCTGTCCATCACGT	0.353																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1432-1434)Cag>Tag		YTH domain containing 1							139	139	139					4																	69189859		2203	4300	6503	SO:0001587	stop_gained	91746							g.chr4:69189859G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1432C>T	4.37:g.69189859G>A	ENSP00000339245:p.Gln478*					YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q460*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q478*	p.Q478*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			10	1767	-			478			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	c.1432C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	41	8.907815	0.98998	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	.	.	.	X	478;460	.	ENSP00000339245:Q478X	Q	-	1	0	YTHDC1	68872454	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.358000	0.97109	2.835000	0.97688	0.591000	0.81541	CAG		0.353	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		6	42	0	0	0	1	0	6	42					A	69189859	G	A	69189859	4	1	320	1	0	0	0	0	0	1	0	0	17493	1386	48	2	783	2	YTHDC1	4	69189859	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	44314547	69189859	121964417	12	32174											
ADH7	131	broad.mit.edu	37	chr4	100349018	100349018	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctgcatcatcaatcTtagcaacagaagattcatcc	8	10	4	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:100349018T>A	ENST00000209665.4	-	5	752	c.512A>T	c.(511-513)aAg>aTg	p.K171M	ADH7_ENST00000476959.1_Missense_Mutation_p.K179M|ADH7_ENST00000437033.2_Missense_Mutation_p.K159M|ADH7_ENST00000482593.1_Missense_Mutation_p.K102M	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	171					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ATCATCAATCTTAGCAACAGA	0.463																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(475-477)aAg>aTg		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						219	176	191					4																	100349018		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349018T>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.512A>T	4.37:g.100349018T>A	ENSP00000209665:p.Lys171Met					ADH7_ENST00000209665.4_Missense_Mutation_p.K171M|ADH7_ENST00000476959.1_Missense_Mutation_p.K179M|ADH7_ENST00000482593.1_Missense_Mutation_p.K102M	p.K159M			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	979	-			171					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.476A>T	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932349	0.73442	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	4.81	3.63	0.41609	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.046452	0.85682	D	0.000000	T	0.28764	0.0713	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.20207	-1.0282	10	0.87932	D	0	-21.9699	10.3936	0.44188	0.0:0.077:0.0:0.923	.	171	P40394	ADH7_HUMAN	M	159;171;102;179;102	ENSP00000414254:K159M;ENSP00000209665:K171M;ENSP00000420613:K102M;ENSP00000420269:K179M;ENSP00000420300:K102M	ENSP00000209665:K171M	K	-	2	0	ADH7	100568041	1.000000	0.71417	0.004000	0.12327	0.113000	0.19764	4.351000	0.59398	0.877000	0.35895	0.533000	0.62120	AAG		0.463	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		7	49	0	0	0	1	0	7	49					A	100349018	T	A	100349018	3	1	320	1	0	0	0	0	1	0	0	0	313	1609	56	5	668	5	ADH7	4	100349018	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	31159159	100349018	90805258	13	32175											
DCHS2	54798	broad.mit.edu	37	chr4	155241554	155241554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgactcatctagcataaacGtcatgttttcatttcctgag	6	9	4	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:155241554G>A	ENST00000357232.4	-	14	3631	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1211	Cadherin 10. {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)		TAGCATAAACGTCATGTTTTC	0.408																																						ENST00000357232.3																			0				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						c.(3631-3633)aCg>aTg		dachsous cadherin-related 2							189	167	175					4																	155241554		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241554G>A	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.3632C>T	4.37:g.155241554G>A	ENSP00000349768:p.Thr1211Met						p.T1211M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3631	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1211			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3632C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	2.520	-0.310966	0.05458	.	.	ENSG00000197410	ENST00000357232	T	0.51574	0.7	5.56	2.88	0.33553	Cadherin (4);Cadherin-like (1);	0.831797	0.10808	N	0.631864	T	0.25306	0.0615	N	0.05592	-0.015	0.20703	N	0.999866	B	0.24721	0.11	B	0.20184	0.028	T	0.18745	-1.0327	10	0.44086	T	0.13	.	5.1624	0.15068	0.3043:0.1393:0.5565:0.0	.	1211	Q6V1P9	PCD23_HUMAN	M	1211	ENSP00000349768:T1211M	ENSP00000349768:T1211M	T	-	2	0	DCHS2	155461004	0.411000	0.25384	0.066000	0.19879	0.226000	0.24999	0.950000	0.29122	0.296000	0.22592	0.467000	0.42956	ACG		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		22	46	0	0	0	1	0	22	46					A	155241554	G	A	155241554	3	1	320	1	0	0	0	0	1	0	0	0	4288	1145	40	1	5166	1	DCHS2	4	155241554	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	54892536	155241554	35912722	14	32176											
SLC6A18	348932	broad.mit.edu	37	chr5	1243683	1243683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagagtgcctcgggccCgggcctggccttcgtcgtct	14	14	1	1	rs199865996		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:1243683C>T	ENST00000324642.3	+	9	1268	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.P311L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	382					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTCGGGCCCGGGCCTGGCC	0.647																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1144-1146)cCg>cTg		solute carrier family 6 (neutral amino acid transporter), member 18		C	LEU/PRO	0,4406		0,0,2203	66	62	64		1145	5	0.9	5		64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC6A18	NM_182632.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	382/629	1243683	1,13005	2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1243683C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1145C>T	5.37:g.1243683C>T	ENSP00000323549:p.Pro382Leu					SLC6A18_ENST00000296821.4_Missense_Mutation_p.P311L	p.P382L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1268	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		382						Missense_Mutation	SNP	ENST00000324642.3	37	c.1145C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347789	0.61183	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.77229	-1.08;-1.08	4.98	4.98	0.66077	.	0.228644	0.37623	N	0.002013	T	0.80513	0.4637	M	0.74389	2.26	0.46609	D	0.999124	D	0.54964	0.969	P	0.44561	0.453	D	0.84835	0.0804	10	0.87932	D	0	.	17.8393	0.88710	0.0:1.0:0.0:0.0	.	382	Q96N87	S6A18_HUMAN	L	382;311	ENSP00000323549:P382L;ENSP00000296821:P311L	ENSP00000296821:P311L	P	+	2	0	SLC6A18	1296683	1.000000	0.71417	0.933000	0.37362	0.164000	0.22412	7.184000	0.77705	2.321000	0.78463	0.561000	0.74099	CCG		0.647	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		7	34	0	0	0	1	0	7	34					T	1243683	C	T	1243683	3	4	320	1	0	0	0	0	1	0	0	0	14681	652	23	1	1179	1	SLC6A18	5	1243683	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		1243683	179671577	15	32177											
DAP	1611	broad.mit.edu	37	chr5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggtgtttctgcacaattCgcattccaccagctttcact	8	12	2	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:10748365C>T	ENST00000230895.6	-	2	277	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_ENST00000432074.2_Missense_Mutation_p.R25Q|DAP_ENST00000510546.1_5'UTR	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	25					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)	p.R25Q(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502																																						ENST00000230895.6																			1	Substitution - Missense(1)	p.R25Q(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)	3						c.(73-75)cGa>cAa		death-associated protein							205	164	178					5																	10748365		2203	4300	6503	SO:0001583	missense	1611				activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding	g.chr5:10748365C>T	X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.74G>A	5.37:g.10748365C>T	ENSP00000230895:p.Arg25Gln					DAP_ENST00000510546.1_5'UTR|DAP_ENST00000432074.2_Missense_Mutation_p.R25Q	p.R25Q	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN			2	277	-		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)	25					Q6FGC3|Q9BUC9	Missense_Mutation	SNP	ENST00000230895.6	37	c.74G>A	CCDS3880.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816953	0.70912	.	.	ENSG00000112977	ENST00000230895;ENST00000432074	T;T	0.61859	0.07;0.07	5.04	3.24	0.37175	.	.	.	.	.	T	0.74558	0.3732	M	0.85099	2.735	0.35460	D	0.79644	D;D	0.89917	0.996;1.0	P;D	0.83275	0.643;0.996	T	0.78999	-0.1982	9	0.87932	D	0	.	7.5169	0.27606	0.1635:0.7504:0.0:0.0861	.	25;25	B4DQ75;P51397	.;DAP1_HUMAN	Q	25	ENSP00000230895:R25Q;ENSP00000394163:R25Q	ENSP00000230895:R25Q	R	-	2	0	DAP	10801365	1.000000	0.71417	0.391000	0.26233	0.951000	0.60555	4.581000	0.60949	0.519000	0.28406	0.655000	0.94253	CGA		0.502	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253687.1	NM_004394		14	24	0	0	0	1	0	14	24					T	10748365	C	T	10748365	3	4	320	1	0	0	0	0	1	0	0	0	4233	884	31	1	246	1	DAP	5	10748365	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	9504682	10748365	170166895	16	32178											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347873	140347873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagaggtgacctactccCttctggagagggagattcaa	12	9	2	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:140347873C>T	ENST00000289269.5	+	1	2054	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_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	508	Cadherin 5. {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)			GACCTACTCCCTTCTGGAGAG	0.488																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				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						c.(1522-1524)Ctt>Ttt									100	95	97					5																	140347873		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347873C>T	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.1522C>T	5.37:g.140347873C>T	ENSP00000289269:p.Leu508Phe					PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron	p.L508F	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2054	+			508			Cadherin 5.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1522C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321963	0.41096	.	.	ENSG00000243232	ENST00000289269	T	0.55930	0.49	6.02	4.24	0.50183	Cadherin (4);Cadherin-like (1);	0.000000	0.37857	N	0.001912	T	0.63319	0.2501	L	0.43598	1.365	0.46458	D	0.99905	P;D	0.71674	0.675;0.998	P;D	0.70016	0.535;0.967	T	0.66677	-0.5863	10	0.72032	D	0.01	.	13.189	0.59700	0.0:0.8694:0.0:0.1306	.	508;508	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	F	508	ENSP00000289269:L508F	ENSP00000289269:L508F	L	+	1	0	PCDHAC2	140328057	0.081000	0.21417	1.000000	0.80357	0.916000	0.54674	0.132000	0.15891	1.570000	0.49709	-0.136000	0.14681	CTT		0.488	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		4	97	0	0	0	1	0	4	97					T	140347873	C	T	140347873	3	4	320	1	0	0	0	0	1	0	0	0	11533	681	24	2	1524	2	PCDHAC2	5	140347873	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	129599508	140347873	40567387	17	32179											
RNF145	153830	broad.mit.edu	37	chr5	158601111	158601111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaaagaacagggactAccagttgattccacagggac	10	10	0	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:158601111A>C	ENST00000424310.2	-	6	1036	c.677T>G	c.(676-678)gTa>gGa	p.V226G	RNF145_ENST00000519865.1_Missense_Mutation_p.V226G|RNF145_ENST00000520638.1_Missense_Mutation_p.V240G|RNF145_ENST00000274542.2_Missense_Mutation_p.V254G|RNF145_ENST00000521606.2_Missense_Mutation_p.V243G|RNF145_ENST00000518802.1_Missense_Mutation_p.V256G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	226						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAGGGACTACCAGTTGATT	0.433																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(676-678)gTa>gGa		ring finger protein 145							79	71	74					5																	158601111		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158601111A>C	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.677T>G	5.37:g.158601111A>C	ENSP00000409064:p.Val226Gly					RNF145_ENST00000521606.2_Missense_Mutation_p.V243G|RNF145_ENST00000520638.1_Missense_Mutation_p.V240G|RNF145_ENST00000518802.1_Missense_Mutation_p.V256G|RNF145_ENST00000274542.2_Missense_Mutation_p.V254G|RNF145_ENST00000519865.1_Missense_Mutation_p.V226G	p.V226G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	1036	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	226					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.677T>G	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499087	0.64298	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76839	-1.05;-1.04;-1.04;-1.04;-1.04;-1.05;-1.04	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	N	0.08118	0	0.80722	D	1	P;P;P;P;P;P	0.44877	0.81;0.81;0.81;0.81;0.845;0.774	B;B;B;B;B;B	0.43331	0.339;0.339;0.339;0.339;0.416;0.229	T	0.63207	-0.6689	10	0.18710	T	0.47	-12.9464	15.4247	0.75041	1.0:0.0:0.0:0.0	.	242;243;240;256;226;254	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	G	254;226;226;242;243;256;226;240	ENSP00000274542:V254G;ENSP00000430397:V226G;ENSP00000409064:V226G;ENSP00000430753:V242G;ENSP00000445115:V243G;ENSP00000430955:V256G;ENSP00000429071:V240G	ENSP00000274542:V254G	V	-	2	0	RNF145	158533689	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.287000	0.95975	2.106000	0.64143	0.455000	0.32223	GTA		0.433	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		7	17	0	0	0	1	0	7	17					C	158601111	A	C	158601111	3	2	320	1	0	0	0	0	1	0	0	0	13447	391	14	5	1338	5	RNF145	5	158601111	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	18253238	158601111	22314149	18	32180											
ARID1B	57492	broad.mit.edu	37	chr6	157522460	157522460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctccttttctgccgtctAtgaagatgcagaaggtcatg	10	9	4	3	rs139214813		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:157522460A>G	ENST00000350026.5	+	17	4694	c.4693A>G	c.(4693-4695)Atg>Gtg	p.M1565V	ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560V|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618V|ARID1B_ENST00000346085.5_Missense_Mutation_p.M1578V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTGCCGTCTATGAAGATGCA	0.602																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(4732-4734)Atg>Gtg		AT rich interactive domain 1B (SWI1-like)		A	VAL/MET,VAL/MET	0,4406		0,0,2203	117	114	115		4693,4732	2.5	0.5	6	dbSNP_134	115	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ARID1B	NM_017519.2,NM_020732.3	21,21	0,1,6498	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	1565/2237,1578/2250	157522460	1,12997	2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522460A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4693A>G	6.37:g.157522460A>G	ENSP00000055163:p.Met1565Val					ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618V|ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565V|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560V	p.M1578V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4733	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1565			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4732A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	9.758	1.169210	0.21621	0.0	1.16E-4	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02103	4.78;4.78;4.78;4.79;4.45	4.94	2.54	0.30619	.	0.122448	0.64402	D	0.000001	T	0.00967	0.0032	L	0.46157	1.445	0.35454	D	0.795924	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.44345	-0.9334	10	0.66056	D	0.02	.	7.6473	0.28327	0.776:0.1498:0.0742:0.0	.	1565;1578;1560	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	1578;1565;1618;1560;1087	ENSP00000344546:M1578V;ENSP00000055163:M1565V;ENSP00000356116:M1618V;ENSP00000275248:M1560V;ENSP00000412835:M1087V	ENSP00000275248:M1560V	M	+	1	0	ARID1B	157564152	1.000000	0.71417	0.469000	0.27204	0.865000	0.49528	4.685000	0.61693	0.331000	0.23511	0.533000	0.62120	ATG		0.602	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	126	0	0	0	1	0	6	126					G	157522460	A	G	157522460	3	3	320	1	0	0	0	0	1	0	0	0	914	449	16	3	4802	3	ARID1B	6	157522460	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		157522460	13592607	19	32181											
ADCY1	107	broad.mit.edu	37	chr7	45717491	45717491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcattaagaacagcctcGgaaaaactcagaaaccgctc	9	11	1	2	rs370138365		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:45717491G>A	ENST00000297323.7	+	9	1651	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	543					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)	GAACAGCCTCGGAAAAACTCA	0.498																																						ENST00000297323.7																			0				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						c.(1627-1629)tcG>tcA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	G		0,4406		0,0,2203	83	98	93		1629	-10.5	0.1	7		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY1	NM_021116.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		543/1120	45717491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45717491G>A	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.1629G>A	7.37:g.45717491G>A							p.S543S	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			9	1651	+			543					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1629G>A	CCDS34631.1																																																																																				0.498	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		4	125	0	0	0	1	0	4	125					A	45717491	G	A	45717491	2	1	320	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45717491	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		45717491	113421172	20	32182											
TAS2R41	259287	broad.mit.edu	37	chr7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttatctccatgcagaacGacttttactggccatggcaa	7	10	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:143175752G>A	ENST00000408916.1	+	1	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	263					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(787-789)Gac>Aac		taste receptor, type 2, member 41							146	142	143					7																	143175752		2046	4190	6236	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175752G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.787G>A	7.37:g.143175752G>A	ENSP00000386201:p.Asp263Asn					EPHA1-AS1_ENST00000429289.1_RNA	p.D263N	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	787	+	Melanoma(164;0.15)		263					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.787G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156291	0.09236	.	.	ENSG00000221855	ENST00000408916	T	0.00717	5.79	6.0	1.62	0.23740	.	1.678960	0.04442	U	0.370990	T	0.01287	0.0042	M	0.63428	1.95	0.09310	N	1	P	0.42692	0.787	B	0.41666	0.363	T	0.51204	-0.8735	10	0.13108	T	0.6	.	5.9125	0.19037	0.1937:0.3006:0.5057:0.0	.	263	P59536	T2R41_HUMAN	N	263	ENSP00000386201:D263N	ENSP00000386201:D263N	D	+	1	0	TAS2R41	142885874	0.000000	0.05858	0.091000	0.20842	0.001000	0.01503	0.164000	0.16542	0.413000	0.25759	-0.176000	0.13171	GAC		0.473	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			4	67	0	0	0	1	0	4	67					A	143175752	G	A	143175752	3	1	320	1	0	0	0	0	1	0	0	0	15576	1058	37	1	789	1	TAS2R41	7	143175752	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	97458261	143175752	15962911	21	32183											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													ctcctttttattccaactctAcaaacagtttccgaaacaca					rs387906562|rs369807922		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													ENST00000388918.5																			2	Deletion - Frameshift(2)	p.N353fs*31(2)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acfs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs					TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs	p.TN352fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1183_1186	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		14	4						14	4	---	---	---	---	-	12702414	ACAA	-	12702411	7	5	320	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-HT-A614-01A-11D-A29Q-08		12702411	128511020	22	32184											
PPP6C	5537	broad.mit.edu	37	chr9	127933438	127933438	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgactcttctaagaggaggtCacaaacgtagtcacatagcc	9	10	4	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:127933438C>T	ENST00000373547.4	-	2	196	c.97G>A	c.(97-99)Gac>Aac	p.D33N	PPP6C_ENST00000451402.1_Missense_Mutation_p.D70N|PPP6C_ENST00000415905.1_Missense_Mutation_p.D33N|PPP6C_ENST00000373546.3_5'UTR	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	33					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAGAGGAGGTCACAAACGTAG	0.328																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(208-210)Gac>Aac		protein phosphatase 6, catalytic subunit							158	150	153					9																	127933438		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127933438C>T	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.97G>A	9.37:g.127933438C>T	ENSP00000362648:p.Asp33Asn					PPP6C_ENST00000415905.1_Missense_Mutation_p.D33N|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Missense_Mutation_p.D33N	p.D70N	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			3	428	-			33					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.208G>A	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704634	0.88924	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000456642	T;T;T;T	0.62788	3.46;3.46;3.46;0.0	5.92	5.92	0.95590	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78049	2.395	0.80722	D	1	B;P;B	0.52577	0.38;0.954;0.262	B;P;B	0.51742	0.425;0.678;0.185	T	0.77504	-0.2563	10	0.72032	D	0.01	-30.8606	18.8845	0.92370	0.0:1.0:0.0:0.0	.	33;70;33	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	N	33;70;33;21	ENSP00000362648:D33N;ENSP00000392147:D70N;ENSP00000411744:D33N;ENSP00000416287:D21N	ENSP00000362648:D33N	D	-	1	0	PPP6C	126973259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.882000	0.75589	2.809000	0.96659	0.655000	0.94253	GAC		0.328	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		32	49	0	0	0	1	0	32	49					T	127933438	C	T	127933438	3	4	320	1	0	0	0	0	1	0	0	0	12407	826	29	2	844	2	PPP6C	9	127933438	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	115231027	127933438	13279993	23	32185											
NUP188	23511	broad.mit.edu	37	chr9	131768629	131768629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaacagcggatgaagcaGgagctcagctctgagttggt	14	8	2	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:131768629G>A	ENST00000372577.2	+	43	5076	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1685					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						GGATGAAGCAGGAGCTCAGCT	0.592											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372577.2																			0				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						c.(5053-5055)caG>caA		nucleoporin 188kDa							115	126	122					9																	131768629		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131768629G>A	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.5055G>A	9.37:g.131768629G>A			OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.Q1685Q	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			43	5076	+			1685					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.5055G>A	CCDS35156.1																																																																																				0.592	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			22	237	0	0	0	1	0	22	237					A	131768629	G	A	131768629	2	1	320	1	0	0	0	0	0	0	0	1	10758	991	35	2		2	NUP188	9	131768629	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	3835191	131768629	9444802	24	32186											
KIAA1462	57608	broad.mit.edu	37	chr10	30318281	30318281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggagtccaaatttggtgCgcaagtgggaggatacggtg	17	6	0	0	rs199858771		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:30318281C>T	ENST00000375377.1	-	3	897	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	266	Pro-rich.				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						AAATTTGGTGCGCAAGTGGGA	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19907	0.0		0.0	False		,,,				2504	0.0					ENST00000375377.1																			0				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						c.(796-798)Gca>Aca		KIAA1462		C	THR/ALA	0,3906		0,0,1953	95	97	96		796	-1.4	0	10		96	1,8291		0,1,4145	yes	missense	KIAA1462	NM_020848.2	58	0,1,6098	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging	266/1360	30318281	1,12197	1953	4146	6099	SO:0001583	missense	57608							g.chr10:30318281C>T	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.796G>A	10.37:g.30318281C>T	ENSP00000364526:p.Ala266Thr						p.A266T	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	897	-			266			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.796G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983966	0.18889	0.0	1.21E-4	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.12	-1.38	0.09027	.	1.001150	0.08058	N	0.997634	T	0.11537	0.0281	L	0.57536	1.79	0.09310	N	1	P	0.46952	0.887	B	0.36186	0.219	T	0.35699	-0.9778	10	0.27082	T	0.32	-7.1568	8.2988	0.32001	0.0:0.4467:0.3659:0.1874	.	266	Q9P266	K1462_HUMAN	T	266	ENSP00000364526:A266T	ENSP00000364526:A266T	A	-	1	0	KIAA1462	30358287	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.704000	0.25661	-0.072000	0.12864	-2.352000	0.00242	GCA		0.522	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		6	61	0	0	0	1	0	6	61					T	30318281	C	T	30318281	3	4	320	1	0	0	0	0	1	0	0	0	8234	768	27	1	3291	1	KIAA1462	10	30318281	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		30318281	105216466	25	32187											
HK1	3098	broad.mit.edu	37	chr10	71160766	71160766	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctccagaatcatgcacCagacggtgaaggaactgtca	10	11	3	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:71160766C>T	ENST00000359426.6	+	18	2733	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	HK1_ENST00000404387.2_Nonsense_Mutation_p.Q881*|HK1_ENST00000448642.2_Nonsense_Mutation_p.Q912*|HK1_ENST00000360289.2_Nonsense_Mutation_p.Q865*|HK1_ENST00000298649.3_Nonsense_Mutation_p.Q876*	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	877	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AATCATGCACCAGACGGTGAA	0.552																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(2734-2736)Cag>Tag		hexokinase 1							91	84	86					10																	71160766		2203	4300	6503	SO:0001587	stop_gained	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71160766C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2629C>T	10.37:g.71160766C>T	ENSP00000352398:p.Gln877*					HK1_ENST00000404387.2_Nonsense_Mutation_p.Q881*|HK1_ENST00000359426.6_Nonsense_Mutation_p.Q877*|HK1_ENST00000298649.3_Nonsense_Mutation_p.Q876*|HK1_ENST00000360289.2_Nonsense_Mutation_p.Q865*	p.Q912*			P19367	HXK1_HUMAN			23	3123	+			877			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Nonsense_Mutation	SNP	ENST00000359426.6	37	c.2734C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	44	10.573930	0.99430	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-17.9209	20.3681	0.98887	0.0:1.0:0.0:0.0	.	.	.	.	X	865;912;881;876;877;877	.	ENSP00000298649:Q876X	Q	+	1	0	HK1	70830772	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.623000	0.61247	2.890000	0.99128	0.655000	0.94253	CAG		0.552	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		21	43	0	0	0	1	0	21	43					T	71160766	C	T	71160766	4	4	320	1	0	0	0	0	0	1	0	0	7190	595	21	2	2877	2	HK1	10	71160766	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	40842485	71160766	64373981	26	32188											
AMBRA1	55626	broad.mit.edu	37	chr11	46431879	46431879	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagtgaagaccgtctcgttCagctggtcccagtagtactc	10	12	2	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:46431879C>G	ENST00000458649.2	-	16	3574	c.3156G>C	c.(3154-3156)ctG>ctC	p.L1052L	AMBRA1_ENST00000426438.1_Silent_p.L1023L|AMBRA1_ENST00000528950.1_Silent_p.L1023L|AMBRA1_ENST00000298834.3_Silent_p.L992L|AMBRA1_ENST00000314845.3_Silent_p.L962L|AMBRA1_ENST00000534300.1_Silent_p.L992L|AMBRA1_ENST00000533727.1_Silent_p.L933L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1052					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)		CCGTCTCGTTCAGCTGGTCCC	0.532																																						ENST00000458649.2																			0				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						c.(3154-3156)ctG>ctC		autophagy/beclin-1 regulator 1							119	104	109					11																	46431879		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46431879C>G	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.3156G>C	11.37:g.46431879C>G						AMBRA1_ENST00000298834.3_Silent_p.L992L|AMBRA1_ENST00000426438.1_Silent_p.L1023L|AMBRA1_ENST00000528950.1_Silent_p.L1023L|AMBRA1_ENST00000534300.1_Silent_p.L992L|AMBRA1_ENST00000533727.1_Silent_p.L933L|AMBRA1_ENST00000314845.3_Silent_p.L962L	p.L1052L			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	16	3574	-			1052					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.3156G>C																																																																																					0.532	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		7	103	0	0	0	1	0	7	103					G	46431879	C	G	46431879	2	3	320	1	0	0	0	0	0	0	0	1	565	813	29	4		4	AMBRA1	11	46431879	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		46431879	88574637	27	32189											
FNBP4	23360	broad.mit.edu	37	chr11	47753113	47753113	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaataccgtctatgatcCctaaattacaagaaagaaaa	5	7	1	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:47753113C>T	ENST00000263773.5	-	12	1833	c.1821G>A	c.(1819-1821)agG>agA	p.R607R	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	607	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.					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						GTCTATGATCCCTAAATTACA	0.438																																						ENST00000263773.5																			0				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						c.e12-1		formin binding protein 4							89	81	83					11																	47753113		1849	4097	5946	SO:0001630	splice_region_variant	23360							g.chr11:47753113C>T	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.1821-1G>A	11.37:g.47753113C>T							p.R607_splice	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			12	1833	-			607			WW 2.		Q9H985|Q9NT81|Q9Y2L7	Splice_Site	SNP	ENST00000263773.5	37	c.1820_splice	CCDS41644.1																																																																																				0.438	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		Silent	24	28	0	0	0	1	0	24	28					T	47753113	C	T	47753113	5	4	320	1	0	0	0	0	0	0	1	0	5967	637	22	2	1256	2	FNBP4	11	47753113	Splice_Site	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	1321234	47753113	87253403	28	32190											
OR4C13	283092	broad.mit.edu	37	chr11	49974773	49974773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctactttacccattgatAaagcagttgctgtattctac	6	10	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:49974773A>G	ENST00000555099.1	+	1	831	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	267						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(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACCCATTGATAAAGCAGTTGC	0.393																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(799-801)Aaa>Gaa		olfactory receptor, family 4, subfamily C, member 13							129	123	125					11																	49974773		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974773A>G	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.799A>G	11.37:g.49974773A>G	ENSP00000452277:p.Lys267Glu						p.K267E	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	831	+			267					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.799A>G	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370032	0.24771	.	.	ENSG00000258817	ENST00000555099	T	0.00183	8.6	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000135	T	0.00384	0.0012	M	0.85777	2.775	0.09310	N	1	P	0.49185	0.92	P	0.54924	0.764	T	0.33240	-0.9876	9	.	.	.	.	4.7883	0.13236	0.8519:0.0:0.1481:0.0	.	267	Q8NGP0	OR4CD_HUMAN	E	267	ENSP00000452277:K267E	.	K	+	1	0	OR4C13	49931349	0.180000	0.23148	0.833000	0.33012	0.094000	0.18550	2.919000	0.48836	1.342000	0.45619	0.156000	0.16432	AAA		0.393	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		4	91	0	0	0	1	0	4	91					G	49974773	A	G	49974773	3	3	320	1	0	0	0	0	1	0	0	0	11047	363	13	3	801	3	OR4C13	11	49974773	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	2221660	49974773	85031743	29	32191											
MS4A3	932	broad.mit.edu	37	chr11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaacagttctgtagttcagGaaccttgtctgttgtagcag	10	8	3	0	rs374038673		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:59831748G>A	ENST00000278865.3	+	4	381	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E|MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	103						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363																																						ENST00000278865.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(307-309)gGa>gAa		membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)		G	GLU/GLY,GLU/GLY,	0,4402		0,0,2201	135	142	140		170,308,	3.4	0.6	11		140	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,utr-5	MS4A3	NM_001031809.1,NM_006138.4,NM_001031666.1	98,98,	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	57/169,103/215,	59831748	1,12991	2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59831748G>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.308G>A	11.37:g.59831748G>A	ENSP00000278865:p.Gly103Glu					MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E|MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E	p.G103E	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN			4	381	+		all_epithelial(135;0.245)	103					A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.308G>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703388	0.30232	0.0	1.16E-4	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.21191	2.02;2.02;2.02	4.32	3.4	0.38934	.	0.055018	0.64402	N	0.000001	T	0.48714	0.1515	M	0.92880	3.355	0.45183	D	0.998198	D;D	0.60575	0.985;0.988	P;D	0.63793	0.866;0.918	T	0.55256	-0.8169	10	0.87932	D	0	-12.8456	8.065	0.30654	0.1117:0.0:0.8883:0.0	.	57;103	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	E	57;103;57	ENSP00000350872:G57E;ENSP00000278865:G103E;ENSP00000434117:G57E	ENSP00000278865:G103E	G	+	2	0	MS4A3	59588324	0.996000	0.38824	0.617000	0.29091	0.084000	0.17831	2.223000	0.42936	1.150000	0.42419	0.591000	0.81541	GGA		0.363	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			3	29	0	0	0	1	0	3	29					A	59831748	G	A	59831748	3	1	320	1	0	0	0	0	1	0	0	0	9861	1174	41	2	318	2	MS4A3	11	59831748	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	9856975	59831748	75174768	30	32192											
ARNTL2	56938	broad.mit.edu	37	chr12	27553705	27553705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaatttgtctatgtagatcaAaggtaaacatttacatgtta	6	4	2	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:27553705A>T	ENST00000266503.5	+	10	1176	c.1158A>T	c.(1156-1158)caA>caT	p.Q386H	ARNTL2_ENST00000546179.1_Missense_Mutation_p.Q349H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.Q372H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.Q349H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.Q338H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.Q301H|ARNTL2_ENST00000544915.1_Missense_Mutation_p.Q352H|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	386	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGTAGATCAAAGGTAAACAT	0.323																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1054-1056)caA>caT		aryl hydrocarbon receptor nuclear translocator-like 2							59	63	62					12																	27553705		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553705A>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1158A>T	12.37:g.27553705A>T	ENSP00000266503:p.Gln386His					ARNTL2_ENST00000546179.1_Missense_Mutation_p.Q349H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.Q372H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.Q301H|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.Q338H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.Q386H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.Q349H	p.Q352H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			9	1275	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		386					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.1056A>T	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.67|17.67	3.447454|3.447454	0.63178|0.63178	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|T;T;T;T;T;T;T	.|0.18016	.|2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.05|4.05	0.325|0.325	0.15903|0.15903	.|PAS fold-3 (1);PAS (3);	.|0.201056	.|0.44097	.|D	.|0.000491	T|T	0.27832|0.27832	0.0685|0.0685	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;P;P;D;P	.|0.89917	.|0.999;1.0;0.773;0.773;1.0;0.893	.|D;D;P;P;D;P	.|0.79108	.|0.975;0.992;0.586;0.586;0.983;0.903	T|T	0.00756|0.00756	-1.1579|-1.1579	5|10	.|0.40728	.|T	.|0.16	.|.	8.5166|8.5166	0.33250|0.33250	0.4361:0.0:0.5639:0.0|0.4361:0.0:0.5639:0.0	.|.	.|349;352;349;338;372;386	.|F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.|.;.;.;.;.;BMAL2_HUMAN	I|H	338|352;349;349;372;338;386;301	.|ENSP00000442438:Q352H;ENSP00000379238:Q349H;ENSP00000438545:Q349H;ENSP00000312247:Q372H;ENSP00000261178:Q338H;ENSP00000266503:Q386H;ENSP00000445836:Q301H	.|ENSP00000261178:Q338H	K|Q	+|+	2|3	0|2	ARNTL2|ARNTL2	27444972|27444972	0.945000|0.945000	0.32115|0.32115	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	0.274000|0.274000	0.18680|0.18680	-0.030000|-0.030000	0.13804|0.13804	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.323	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		21	20	0	0	0	1	0	21	20					T	27553705	A	T	27553705	3	4	320	1	0	0	0	0	1	0	0	0	968	11	1	5	1196	5	ARNTL2	12	27553705	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		27553705	106298190	31	32193											
DNAJC14	85406	broad.mit.edu	37	chr12	56222131	56222131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttttgagagttcctgGtccactcctgattcttcttc	6	11	3	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:56222131G>T	ENST00000357606.3	-	3	601	c.312C>A	c.(310-312)gaC>gaA	p.D104E	RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Missense_Mutation_p.D104E|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Missense_Mutation_p.D104E			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	104					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						AGAGTTCCTGGTCCACTCCTG	0.527																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(310-312)gaC>gaA		DnaJ (Hsp40) homolog, subfamily C, member 14							219	234	229					12																	56222131		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222131G>T	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.312C>A	12.37:g.56222131G>T	ENSP00000350223:p.Asp104Glu					DNAJC14_ENST00000317287.5_Missense_Mutation_p.D104E|DNAJC14_ENST00000317269.3_Missense_Mutation_p.D104E	p.D104E			Q6Y2X3	DJC14_HUMAN			3	601	-			104					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.312C>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031147	0.35797	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287;ENST00000547445	T;T;T	0.33865	1.39;1.39;1.39	5.39	2.6	0.31112	.	0.238619	0.33691	N	0.004659	T	0.19127	0.0459	N	0.12182	0.205	0.26233	N	0.978989	P;P	0.46784	0.884;0.533	B;B	0.41466	0.358;0.138	T	0.07009	-1.0795	10	0.39692	T	0.17	-14.3007	7.4866	0.27437	0.2669:0.0:0.7331:0.0	.	104;104	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	E	104	ENSP00000350223:D104E;ENSP00000316240:D104E;ENSP00000317500:D104E	ENSP00000316240:D104E	D	-	3	2	DNAJC14	54508398	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	0.820000	0.27323	0.360000	0.24265	-0.142000	0.14014	GAC		0.527	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		9	300	1	0	0.000274275	1	0.000287989	9	300					T	56222131	G	T	56222131	3	4	320	1	0	0	0	0	1	0	0	0	4633	1252	44	4	1820	4	DNAJC14	12	56222131	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	28668426	56222131	77629764	32	32194											
NCOR2	9612	broad.mit.edu	37	chr12	124810104	124810104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagccgcatgatcagGgggttgtaggggaatggcgt	18	8	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:124810104G>A	ENST00000405201.1	-	47	7389	c.7389C>T	c.(7387-7389)ccC>ccT	p.P2463P	NCOR2_ENST00000404621.1_Silent_p.P2407P|NCOR2_ENST00000356219.3_Silent_p.P2470P|NCOR2_ENST00000397355.1_Silent_p.P2408P|NCOR2_ENST00000404121.2_Silent_p.P2024P|NCOR2_ENST00000429285.2_Silent_p.P2453P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2474					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)		GCATGATCAGGGGGTTGTAGG	0.721																																						ENST00000356219.3																			0				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						c.(7408-7410)ccC>ccT		nuclear receptor corepressor 2							11	15	14					12																	124810104		1897	4069	5966	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124810104G>A	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.7389C>T	12.37:g.124810104G>A						NCOR2_ENST00000397355.1_Silent_p.P2408P|NCOR2_ENST00000404121.2_Silent_p.P2024P|NCOR2_ENST00000429285.2_Silent_p.P2453P|NCOR2_ENST00000405201.1_Silent_p.P2463P|NCOR2_ENST00000404621.1_Silent_p.P2407P	p.P2470P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		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)	48	7565	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2474					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.7410C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.509|7.509	0.654213|0.654213	0.14580|0.14580	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000443451|ENST00000418829;ENST00000413172	.|.	.|.	.|.	4.23|4.23	0.092|0.092	0.14470|0.14470	.|.	0.062440|0.062440	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.48714|0.48714	0.1515|0.1515	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45600|0.45600	-0.9250|-0.9250	6|6	0.87932|0.87932	D|D	0|0	-26.2327|-26.2327	0.9809|0.9809	0.01436|0.01436	0.2463:0.1304:0.3863:0.2371|0.2463:0.1304:0.3863:0.2371	.|.	.|.	.|.	.|.	L|S	260|129;132	.|.	ENSP00000405246:P260L|ENSP00000407357:P132S	P|P	-|-	2|1	0|0	NCOR2|NCOR2	123376057|123376057	0.017000|0.017000	0.18338|0.18338	0.997000|0.997000	0.53966|0.53966	0.589000|0.589000	0.36550|0.36550	-0.945000|-0.945000	0.03909|0.03909	-0.104000|-0.104000	0.12154|0.12154	0.313000|0.313000	0.20887|0.20887	CCC|CCT		0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	1	0	0	0	1	0	3	1					A	124810104	G	A	124810104	2	1	320	1	0	0	0	0	0	0	0	1	10236	1219	43	2		2	NCOR2	12	124810104	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	68587973	124810104	9041791	33	32195											
AKAP13	11214	broad.mit.edu	37	chr15	86076938	86076938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgtatgatgcagctcaatTcctagcaaccagtgctggaa	10	10	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr15:86076938T>C	ENST00000394518.2	+	4	400	c.305T>C	c.(304-306)tTc>tCc	p.F102S	AKAP13_ENST00000361243.2_Missense_Mutation_p.F102S|AKAP13_ENST00000560302.1_Missense_Mutation_p.F102S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	102					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						GCAGCTCAATTCCTAGCAACC	0.493																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(304-306)tTc>tCc		A kinase (PRKA) anchor protein 13							144	134	137					15																	86076938		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076938T>C	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.305T>C	15.37:g.86076938T>C	ENSP00000378026:p.Phe102Ser					AKAP13_ENST00000560302.1_Missense_Mutation_p.F102S|AKAP13_ENST00000361243.2_Missense_Mutation_p.F102S	p.F102S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			4	400	+			102					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.305T>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424413	0.83667	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.58506	0.33;0.33	5.67	5.67	0.87782	.	.	.	.	.	T	0.70500	0.3231	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.72643	-0.4231	9	0.66056	D	0.02	.	15.3819	0.74664	0.0:0.0:0.0:1.0	.	102;102;102	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	S	102;102;101;101	ENSP00000354718:F102S;ENSP00000378026:F102S	ENSP00000354718:F102S	F	+	2	0	AKAP13	83877942	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.461000	0.66699	2.281000	0.76405	0.533000	0.62120	TTC		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		37	46	0	0	0	1	0	37	46					C	86076938	T	C	86076938	3	2	320	1	0	0	0	0	1	0	0	0	449	1783	62	3	315	3	AKAP13	15	86076938	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08		86076938	16454454	34	32196											
USP10	9100	broad.mit.edu	37	chr16	84778248	84778248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctaaacaggacaagaatAtcagagaattgagtttggtg	10	4	2	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:84778248A>G	ENST00000219473.7	+	4	274	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	USP10_ENST00000570191.1_Missense_Mutation_p.Y58C|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	54	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGACAAGAATATCAGAGAATT	0.393																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(160-162)tAt>tGt		ubiquitin specific peptidase 10							40	37	38					16																	84778248		1844	4081	5925	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778248A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.161A>G	16.37:g.84778248A>G	ENSP00000219473:p.Tyr54Cys					USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.Y58C	p.Y54C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			4	274	+			54			Interaction with p53/TP53.		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.161A>G	CCDS45537.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.712|8.712	0.912341|0.912341	0.17907|0.17907	.|.	.|.	ENSG00000103194|ENSG00000103194	ENST00000540269|ENST00000219473	.|T	.|0.08984	.|3.03	5.06|5.06	2.82|2.82	0.32997|0.32997	.|.	.|1.724280	.|0.02713	.|N	.|0.113064	T|T	0.09379|0.09379	0.0231|0.0231	L|L	0.34521|0.34521	1.04|1.04	0.41426|0.41426	D|D	0.987839|0.987839	.|B;B	.|0.13594	.|0.008;0.002	.|B;B	.|0.13407	.|0.009;0.003	T|T	0.12142|0.12142	-1.0559|-1.0559	6|10	0.66056|0.30078	D|T	0.02|0.28	-0.7158|-0.7158	9.1534|9.1534	0.36978|0.36978	0.8972:0.0:0.1028:0.0|0.8972:0.0:0.1028:0.0	.|.	.|58;54	.|Q14694-3;Q14694	.|.;UBP10_HUMAN	V|C	34|54	.|ENSP00000219473:Y54C	ENSP00000445589:I34V|ENSP00000219473:Y54C	I|Y	+|+	1|2	0|0	USP10|USP10	83335749|83335749	1.000000|1.000000	0.71417|0.71417	0.077000|0.077000	0.20336|0.20336	0.930000|0.930000	0.56654|0.56654	1.858000|1.858000	0.39408|0.39408	0.275000|0.275000	0.22094|0.22094	0.402000|0.402000	0.26972|0.26972	ATC|TAT		0.393	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			3	28	0	0	0	1	0	3	28					G	84778248	A	G	84778248	3	3	320	1	0	0	0	0	1	0	0	0	17038	449	16	3	175	3	USP10	16	84778248	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		84778248	5576505	35	32197											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000420246.2_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>A	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.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	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	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	7	1	0	6.94344e-10	1	7.54202e-10	18	7					A	7577120	C	A	7577120	3	1	320	1	0	0	0	0	1	0	0	0	16378	536	19	4	468	4	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		7577120	73618090	36	32198											
MYH4	4622	broad.mit.edu	37	chr17	10370011	10370011	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccttttcagactttcGgaggaaaggagcagcctccc	10	13	1	1	rs373223401		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:10370011G>A	ENST00000255381.2	-	3	162	c.52C>T	c.(52-54)Cga>Tga	p.R18*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	18					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						TCAGACTTTCGGAGGAAAGGA	0.478																																						ENST00000255381.2																			0				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						c.(52-54)Cga>Tga		myosin, heavy chain 4, skeletal muscle		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	107	97	100		52	3.5	1	17		100	0,8600		0,0,4300	no	stop-gained	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		18/1940	10370011	1,13005	2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10370011G>A		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.52C>T	17.37:g.10370011G>A	ENSP00000255381:p.Arg18*					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R18*	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			3	162	-			18			Myosin head-like.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.52C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430843	0.83776	2.27E-4	0.0	ENSG00000141048	ENST00000255381	.	.	.	4.53	3.48	0.39840	.	0.000000	0.31847	U	0.006970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5501	0.68059	0.0:0.0:0.8534:0.1466	.	.	.	.	X	18	.	ENSP00000255381:R18X	R	-	1	2	MYH4	10310736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.333000	0.43912	2.498000	0.84270	0.650000	0.86243	CGA		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		14	83	0	0	0	1	0	14	83					A	10370011	G	A	10370011	4	1	320	1	0	0	0	0	0	1	0	0	10037	1124	39	1	5919	1	MYH4	17	10370011	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2792891	10370011	70825199	37	32199											
PIGS	94005	broad.mit.edu	37	chr17	26890508	26890508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcagggagccctccgcttGttcctgaggctcatctaaca	10	13	3	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:26890508G>T	ENST00000308360.7	-	5	784	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	PIGS_ENST00000543734.1_Missense_Mutation_p.Q76K|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.Q129K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	137					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)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGCTTGTTCCTGAGGC	0.527																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(409-411)Caa>Aaa		phosphatidylinositol glycan anchor biosynthesis, class S							129	103	112					17																	26890508		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890508G>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.409C>A	17.37:g.26890508G>T	ENSP00000309430:p.Gln137Lys					PIGS_ENST00000395346.2_Missense_Mutation_p.Q129K|PIGS_ENST00000543734.1_Missense_Mutation_p.Q76K|PIGS_ENST00000465444.1_5'UTR	p.Q137K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			5	784	-	Lung NSC(42;0.00431)		137					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.409C>A	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	G	1.872	-0.460049	0.04508	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.41758	0.99;0.99;0.99	4.93	2.81	0.32909	.	0.513584	0.21682	N	0.070706	T	0.22085	0.0532	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.011	B;B	0.18561	0.022;0.013	T	0.32134	-0.9918	10	0.06099	T	0.92	-9.2285	1.5845	0.02641	0.1606:0.1857:0.4615:0.1921	.	137;129	Q96S52;Q96S52-2	PIGS_HUMAN;.	K	129;137;76	ENSP00000378755:Q129K;ENSP00000309430:Q137K;ENSP00000438447:Q76K	ENSP00000309430:Q137K	Q	-	1	0	PIGS	23914635	0.001000	0.12720	0.156000	0.22583	0.671000	0.39405	0.198000	0.17217	2.437000	0.82529	0.467000	0.42956	CAA		0.527	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		21	34	1	0	1.55795e-14	1	1.75269e-14	21	34					T	26890508	G	T	26890508	3	4	320	1	0	0	0	0	1	0	0	0	11898	1386	48	4	1290	4	PIGS	17	26890508	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	16520497	26890508	54304702	38	32200											
CSF3	1440	broad.mit.edu	37	chr17	38172560	38172560	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatcccctgggctccCctgagcagctgccccagcca	11	19	0	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:38172560C>T	ENST00000225474.2	+	3	310	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CSF3_ENST00000331769.2_Silent_p.P86P|CSF3_ENST00000577675.1_Intron|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Intron|CSF3_ENST00000394149.3_Silent_p.P90P			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	93					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|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 binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CCTGGGCTCCCCTGAGCAGCT	0.632																																						ENST00000331769.2																			0				endometrium(1)|ovary(1)|prostate(1)	3						c.(256-258)ccC>ccT		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						22	20	20					17																	38172560		2202	4295	6497	SO:0001819	synonymous_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172560C>T		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.279C>T	17.37:g.38172560C>T						CSF3_ENST00000225474.2_Silent_p.P93P|CSF3_ENST00000394148.3_Intron|CSF3_ENST00000394149.3_Silent_p.P90P|CSF3_ENST00000577675.1_Intron	p.P86P			P09919	CSF3_HUMAN			2	474	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	93					A8MXR7	Silent	SNP	ENST00000225474.2	37	c.258C>T	CCDS11357.1																																																																																				0.632	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		8	9	0	0	0	1	0	8	9					T	38172560	C	T	38172560	2	4	320	1	0	0	0	0	0	0	0	1	3936	610	22	2		2	CSF3	17	38172560	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	11282052	38172560	43022650	39	32201											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcccatcagaatccaaacGagaggaagatgaagaatatt	9	7	1	5	rs76927023		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1447-1449)cGa>cAa		ankyrin repeat domain 30B							169	160	163					18																	14779986		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779986G>A	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.1448G>A	18.37:g.14779986G>A	ENSP00000351875:p.Arg483Gln					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q	p.R483Q	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			11	1628	+			483					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1448G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.092170	0.00364	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.36520	1.51;1.25	1.69	0.451	0.16629	.	.	.	.	.	T	0.09905	0.0243	N	0.00926	-1.1	0.09310	N	1	B	0.23854	0.092	B	0.08055	0.003	T	0.28138	-1.0053	9	0.22109	T	0.4	.	3.9288	0.09275	0.7996:0.0:0.2004:0.0	.	483	F8WAG3	.	Q	483	ENSP00000351875:R483Q;ENSP00000399031:R483Q	ENSP00000351875:R483Q	R	+	2	0	ANKRD30B	14769986	0.999000	0.42202	0.002000	0.10522	0.094000	0.18550	1.139000	0.31504	0.127000	0.18452	-1.326000	0.01283	CGA		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	10	0	0	0	1	0	4	10					A	14779986	G	A	14779986	3	1	320	1	0	0	0	0	1	0	0	0	659	1058	37	1	1490	1	ANKRD30B	18	14779986	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		14779986	63297262	40	32202											
SMARCA4	6597	broad.mit.edu	37	chr19	11095998	11095998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggacgacccgcgctacaAccagatgaaaggaatgggga	14	10	0	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:11095998A>G	ENST00000429416.3	+	4	553	c.272A>G	c.(271-273)aAc>aGc	p.N91S	SMARCA4_ENST00000358026.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.N91S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.N91S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	91	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				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)				CCGCGCTACAACCAGATGAAA	0.632			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(271-273)aAc>aGc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							67	61	63					19																	11095998		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11095998A>G	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.272A>G	19.37:g.11095998A>G	ENSP00000395654:p.Asn91Ser					SMARCA4_ENST00000413806.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.N91S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.N91S	p.N91S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			3	556	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	91			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.272A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.288728	0.23478	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.85556	-2.0;-1.99;-2.0;-1.98;-2.0;-2.0;-1.98	4.78	-2.19	0.07015	.	0.365946	0.29900	N	0.010908	T	0.61311	0.2337	N	0.04508	-0.205	0.21897	N	0.99949	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0	T	0.50750	-0.8791	10	0.16896	T	0.51	-25.9492	7.8438	0.29414	0.4066:0.1313:0.4621:0.0	.	91;91;91;91;91;91;91	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	S	91	ENSP00000395654:N91S;ENSP00000350720:N91S;ENSP00000343896:N91S;ENSP00000445036:N91S;ENSP00000392837:N91S;ENSP00000397783:N91S;ENSP00000414727:N91S	ENSP00000343896:N91S	N	+	2	0	SMARCA4	10956998	0.005000	0.15991	0.896000	0.35187	0.945000	0.59286	0.771000	0.26633	-0.813000	0.04357	-0.250000	0.11733	AAC		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		15	37	0	0	0	1	0	15	37					G	11095998	A	G	11095998	3	3	320	1	0	0	0	0	1	0	0	0	14770	43	2	3	278	3	SMARCA4	19	11095998	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		11095998	48032985	41	32203											
SCAF1	58506	broad.mit.edu	37	chr19	50154597	50154597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggacttcccaggtgaCgagagcccccgcccggacgc	13	17	0	2	rs370259405		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:50154597C>T	ENST00000360565.3	+	7	1075	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	317					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCCCAGGTGACGAGAGCCCCC	0.697																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(949-951)gaC>gaT		SR-related CTD-associated factor 1							19	20	19					19																	50154597		2199	4300	6499	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154597C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.951C>T	19.37:g.50154597C>T							p.D317D	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1075	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	317					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.951C>T	CCDS33074.1																																																																																				0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	14	0	0	0	1	0	3	14					T	50154597	C	T	50154597	2	4	320	1	0	0	0	0	0	0	0	1	13868	535	19	1		1	SCAF1	19	50154597	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	39058599	50154597	8974386	42	32204											
KLK15	55554	broad.mit.edu	37	chr19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgccacagttaaagcGtccacgctcgtagagagcca	12	12	0	1	rs140896741	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:51330985G>A	ENST00000598239.1	-	2	160	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	KLK15_ENST00000596931.1_Missense_Mutation_p.R43C|KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000326856.4_Missense_Mutation_p.R43C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(127-129)Cgc>Tgc		kallikrein-related peptidase 15		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	98	72	81		130,130,130	3.6	0	19	dbSNP_134	81	3,8587	3.0+/-9.4	0,3,4292	yes	missense,missense,missense	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	180,180,180	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	44/257,44/162,44/172	51330985	3,12993	2203	4295	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330985G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.130C>T	19.37:g.51330985G>A	ENSP00000469315:p.Arg44Cys					KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|KLK15_ENST00000598239.1_Missense_Mutation_p.R44C|KLK15_ENST00000596931.1_Missense_Mutation_p.R43C	p.R43C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	256	-		all_neural(266;0.057)	44			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.127C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252707	0.59212	0.0	3.49E-4	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89196	-2.48;-2.48	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000569	D	0.91981	0.7460	M	0.66506	2.035	0.43517	D	0.995781	D;D;B;D	0.89917	0.962;1.0;0.383;1.0	B;D;B;D	0.79784	0.236;0.959;0.167;0.993	D	0.91211	0.4999	10	0.66056	D	0.02	.	7.3009	0.26420	0.1977:0.0:0.8023:0.0	.	44;43;44;44	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	44	ENSP00000415136:R44C;ENSP00000301421:R44C	ENSP00000301421:R44C	R	-	1	0	KLK15	56022797	1.000000	0.71417	0.017000	0.16124	0.815000	0.46073	4.427000	0.59888	1.324000	0.45282	0.561000	0.74099	CGC		0.612	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		17	29	0	0	0	1	0	17	29					A	51330985	G	A	51330985	3	1	320	1	0	0	0	0	1	0	0	0	8403	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	1176388	51330985	7797998	43	32205											
EIF2S2	8894	broad.mit.edu	37	chr20	32684527	32684527	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcctactcggacgacttgtgGaggtttcatgacaaatttcc	9	10	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr20:32684527G>C	ENST00000374980.2	-	6	840	c.619C>G	c.(619-621)Cca>Gca	p.P207A		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	207					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACGACTTGTGGAGGTTTCATG	0.388																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(619-621)Cca>Gca		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							114	113	113					20																	32684527		2203	4297	6500	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32684527G>C	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.619C>G	20.37:g.32684527G>C	ENSP00000364119:p.Pro207Ala						p.P207A	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			6	840	-			207					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.619C>G	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.015759	0.93404	.	.	ENSG00000125977	ENST00000374980	T	0.46451	0.87	5.77	5.77	0.91146	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.65498	2.005	0.80722	D	1	P;D;D	0.69078	0.927;0.997;0.997	P;D;D	0.79108	0.888;0.992;0.992	T	0.66006	-0.6030	10	0.87932	D	0	-34.5139	20.3626	0.98863	0.0:0.0:1.0:0.0	.	207;207;207	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	A	207	ENSP00000364119:P207A	ENSP00000364119:P207A	P	-	1	0	EIF2S2	32148188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.526000	0.98042	2.885000	0.99019	0.655000	0.94253	CCA		0.388	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		4	106	0	0	0	1	0	4	106					C	32684527	G	C	32684527	3	2	320	1	0	0	0	0	1	0	0	0	5010	1174	41	4	398	4	EIF2S2	20	32684527	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		32684527	30340993	44	32206											
UBE2G2	7327	broad.mit.edu	37	chr21	46207992	46207992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgctacaattccttccGgaggattcagtgttaattct	7	10	2	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr21:46207992G>A	ENST00000345496.2	-	2	332	c.62C>T	c.(61-63)cCg>cTg	p.P21L	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	21					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		AATTCCTTCCGGAGGATTCAG	0.269																																						ENST00000345496.2																			0				breast(3)|central_nervous_system(1)|lung(1)	5						c.(61-63)cCg>cTg		ubiquitin-conjugating enzyme E2G 2							43	46	45					21																	46207992		2201	4300	6501	SO:0001583	missense	7327				protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr21:46207992G>A	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"Ubiquitin-conjugating enzymes E2"	12483	protein-coding gene	gene with protein product		603124	"ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)", "ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.62C>T	21.37:g.46207992G>A	ENSP00000338348:p.Pro21Leu					UBE2G2_ENST00000330942.5_5'UTR|UBE2G2_ENST00000477954.1_5'UTR	p.P21L	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN		Colorectal(79;0.0638)	2	332	-			21					A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	ENST00000345496.2	37	c.62C>T	CCDS13714.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420155	0.83559	.	.	ENSG00000184787	ENST00000345496	T	0.38722	1.12	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.79693	2.465	0.80722	D	1	D	0.60160	0.987	P	0.55999	0.789	T	0.61964	-0.6954	10	0.39692	T	0.17	-6.8961	16.3909	0.83537	0.0:0.0:1.0:0.0	.	21	P60604	UB2G2_HUMAN	L	21	ENSP00000338348:P21L	ENSP00000338348:P21L	P	-	2	0	UBE2G2	45032420	1.000000	0.71417	0.976000	0.42696	0.915000	0.54546	5.906000	0.69900	2.595000	0.87683	0.655000	0.94253	CCG		0.269	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202647.2	NM_182688		12	19	0	0	0	1	0	12	19					A	46207992	G	A	46207992	3	1	320	1	0	0	0	0	1	0	0	0	16854	1116	39	1	455	1	UBE2G2	21	46207992	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		46207992	1921903	45	32207											
FAAH2	158584	broad.mit.edu	37	chrX	57358192	57358192	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtaacaagatctatggcCgatcaaacaacccatatgat	6	11	2	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:57358192C>T	ENST00000374900.4	+	4	694	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	192						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						GATCTATGGCCGATCAAACAA	0.403										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(574-576)Cga>Tga		fatty acid amide hydrolase 2							182	142	156					X																	57358192		2203	4300	6503	SO:0001587	stop_gained	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358192C>T	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.574C>T	X.37:g.57358192C>T	ENSP00000364035:p.Arg192*	HNSCC(52;0.14)					p.R192*	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			4	694	+			192					Q86VT2|Q96N98	Nonsense_Mutation	SNP	ENST00000374900.4	37	c.574C>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282203	0.40394	.	.	ENSG00000165591	ENST00000374900	.	.	.	2.25	-2.01	0.07410	.	0.290091	0.25783	U	0.028337	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2814	0.10834	0.4896:0.3684:0.0:0.1419	.	.	.	.	X	192	.	ENSP00000364035:R192X	R	+	1	2	FAAH2	57374917	0.895000	0.30542	0.732000	0.30844	0.091000	0.18340	0.425000	0.21346	-0.445000	0.07159	-1.888000	0.00539	CGA		0.403	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		43	12	0	0	0	1	0	43	12					T	57358192	C	T	57358192	4	4	320	1	0	0	0	0	0	1	0	0	5354	644	23	1	588	1	FAAH2	23	57358192	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		57358192	97912368	46	32208											
ATRX	546	broad.mit.edu	37	chrX	76938920	76938920	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatagccatctttatcttGtggaacttcctgacaatcag	6	9	3	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:76938920G>A	ENST00000373344.5	-	9	2042	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q572*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	610					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						TCTTTATCTTGTGGAACTTCC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1828-1830)Caa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						194	219	210					X																	76938920		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938920G>A	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.1828C>T	X.37:g.76938920G>A	ENSP00000362441:p.Gln610*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q572*|ATRX_ENST00000480283.1_5'UTR	p.Q610*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2042	-			610					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1828C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	38	7.234536	0.98154	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.22	5.22	0.72569	.	0.177625	0.42294	D	0.000735	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-3.8042	8.6155	0.33829	0.0:0.2207:0.6378:0.1415	.	.	.	.	X	610;572;537	.	ENSP00000362441:Q610X	Q	-	1	0	ATRX	76825576	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.691000	0.47010	2.177000	0.69029	0.509000	0.49947	CAA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		102	36	0	0	0	1	0	102	36					A	76938920	G	A	76938920	4	1	320	1	0	0	0	0	0	1	0	0	1208	1386	48	2	5758	2	ATRX	23	76938920	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	19580728	76938920	78331640	47	32209											
SPEN	23013	broad.mit.edu	37	chr1	16174599	16174599	+	Frame_Shift_Del	DEL	T	T	-													ggcatctctgggtgggcaacTtacccgagaacgtgcgggaa							TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:16174599delT	ENST00000375759.3	+	1	241	c.37delT	c.(37-39)ttafs	p.L13fs	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		GGTGGGCAACTTACCCGAGAA	0.687																																						ENST00000375759.3																			0				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						c.(37-39)tafs		spen family transcriptional repressor							35	32	33					1																	16174599		2195	4291	6486	SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16174599delT		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.37delT	1.37:g.16174599delT	ENSP00000364912:p.Leu13fs					RP11-169K16.9_ENST00000317122.1_RNA	p.L13fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		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)	1	241	+		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)	13			RRM 1.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.37delT	CCDS164.1																																																																																				0.687	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		2	4						2	4	---	---	---	---	-	16174599	T	-	16174599	7	5	321	1	0	1	0	1	0	0	0	0	15037	1606	56	0	39	0	SPEN	1	16174599	Frame_Shift_Del	DEL	T	TCGA-HT-A615-01A-11D-A29Q-08		16174599	233076022	1	32210											
FUBP1	8880	broad.mit.edu	37	chr1	78444597	78444597	+	Frame_Shift_Del	DEL	A	A	-													ctctctgcagtgcatctttgAaagcgtcgttaactcctcca							TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:78444597delA	ENST00000370768.2	-	1	173	c.92delT	c.(91-93)ttcfs	p.F31fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F31fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.F31fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	31					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGCATCTTTGAAAGCGTCGTT	0.612			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(91-93)tcfs		far upstream element (FUSE) binding protein 1							77	86	83					1																	78444597		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444597delA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.92delT	1.37:g.78444597delA	ENSP00000359804:p.Phe31fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F31fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F31fs	p.F31fs			Q96AE4	FUBP1_HUMAN			1	179	-			31					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.92delT	CCDS683.1																																																																																				0.612	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		77	72						77	72	---	---	---	---	-	78444597	A	-	78444597	7	5	321	1	0	1	0	1	0	0	0	0	6092	246	9	0	1922	0	FUBP1	1	78444597	Frame_Shift_Del	DEL	A	TCGA-HT-A615-01A-11D-A29Q-08	62269998	78444597	170806024	2	32211											
INTS3	65123	broad.mit.edu	37	chr1	153730172	153730172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagtccacccttctaAtgaagtactgagttcagata	10	8	2	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:153730172A>G	ENST00000318967.2	+	10	1650	c.1082A>G	c.(1081-1083)aAt>aGt	p.N361S	INTS3_ENST00000512605.1_Missense_Mutation_p.N155S|INTS3_ENST00000456435.1_Missense_Mutation_p.N155S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.N361S	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	362					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)			CACCCTTCTAATGAAGTACTG	0.527																																						ENST00000456435.1																			0				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						c.(463-465)aAt>aGt		integrator complex subunit 3							135	112	120					1																	153730172		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153730172A>G	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.1082A>G	1.37:g.153730172A>G	ENSP00000318641:p.Asn361Ser					INTS3_ENST00000318967.2_Missense_Mutation_p.N361S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.N361S|INTS3_ENST00000512605.1_Missense_Mutation_p.N155S	p.N155S			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1650	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		362					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.464A>G	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571025	0.86542	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.89414	3.03	0.58432	D	0.999991	D;D;D	0.69078	0.996;0.997;0.996	D;D;D	0.74348	0.971;0.983;0.971	T	0.81642	-0.0840	9	0.72032	D	0.01	.	12.232	0.54492	1.0:0.0:0.0:0.0	.	155;362;361	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	S	361;155;361;155	.	ENSP00000318641:N361S	N	+	2	0	INTS3	151996796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.082000	0.89513	1.994000	0.58287	0.374000	0.22700	AAT		0.527	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		7	90	0	0	0	1	0	7	90					G	153730172	A	G	153730172	3	3	321	1	0	0	0	0	1	0	0	0	7779	101	4	3	1120	3	INTS3	1	153730172	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	75285575	153730172	95520449	3	32212											
SPTA1	6708	broad.mit.edu	37	chr1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcattgccatcacaagCgctacactcaatcagggagt	7	13	5	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:158612230C>T	ENST00000368147.4	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1570				Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4708-4710)Gct>Act		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							106	106	106					1																	158612230		1972	4169	6141	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612230C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4708G>A	1.37:g.158612230C>T	ENSP00000357129:p.Ala1570Thr					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1570T	p.A1570T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			33	4888	-	all_hematologic(112;0.0378)		1570	Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4708G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.726	1.160890	0.21538	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35789	1.29;1.35	5.26	4.35	0.52113	.	0.571149	0.13226	N	0.403989	T	0.22126	0.0533	L	0.36672	1.1	0.25252	N	0.989664	P	0.47962	0.903	P	0.49477	0.612	T	0.15723	-1.0427	10	0.22109	T	0.4	.	15.8535	0.78956	0.0:0.9269:0.0:0.0731	.	1570	P02549	SPTA1_HUMAN	T	1570	ENSP00000357130:A1570T;ENSP00000357129:A1570T	ENSP00000357129:A1570T	A	-	1	0	SPTA1	156878854	1.000000	0.71417	0.045000	0.18777	0.001000	0.01503	5.127000	0.64727	0.806000	0.34183	-0.797000	0.03246	GCT		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	75	0	0	0	1	0	21	75					T	158612230	C	T	158612230	3	4	321	1	0	0	0	0	1	0	0	0	15115	768	27	1	2631	1	SPTA1	1	158612230	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4882058	158612230	90638391	4	32213											
HMCN1	83872	broad.mit.edu	37	chr1	186106054	186106054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtccttgtcagagtgCcagtcatagtccagggtgag	13	9	3	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:186106054C>T	ENST00000271588.4	+	87	13796	c.13567C>T	c.(13567-13569)Cca>Tca	p.P4523S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4523	Ig-like C2-type 44.				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						TGTCAGAGTGCCAGTCATAGT	0.398																																						ENST00000271588.4																			0				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						c.(13567-13569)Cca>Tca		hemicentin 1							135	134	134					1																	186106054		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186106054C>T	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.13567C>T	1.37:g.186106054C>T	ENSP00000271588:p.Pro4523Ser					HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S	p.P4523S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			87	13796	+			4523			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13567C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954601	0.34471	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63744	-0.06;-0.06	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.151653	0.64402	D	0.000016	T	0.55449	0.1921	N	0.04655	-0.195	0.37140	D	0.901659	D	0.76494	0.999	D	0.85130	0.997	T	0.54609	-0.8268	10	0.07990	T	0.79	.	13.9829	0.64315	0.1515:0.8485:0.0:0.0	.	4523	Q96RW7	HMCN1_HUMAN	S	4523	ENSP00000271588:P4523S;ENSP00000356462:P4523S	ENSP00000271588:P4523S	P	+	1	0	HMCN1	184372677	0.977000	0.34250	0.997000	0.53966	0.860000	0.49131	2.662000	0.46766	2.587000	0.87381	0.655000	0.94253	CCA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	122	0	0	0	1	0	4	122					T	186106054	C	T	186106054	3	4	321	1	0	0	0	0	1	0	0	0	7220	739	26	2	13913	2	HMCN1	1	186106054	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	27493824	186106054	63144567	5	32214											
CDC73	79577	broad.mit.edu	37	chr1	193111017	193111017	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtggaaaaaattgctGcaatcaaagccaaaattatg	8	6	2	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:193111017G>C	ENST00000367435.3	+	7	734	c.550G>C	c.(550-552)Gca>Cca	p.A184P		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	184				AIKA -> CNQT (in Ref. 2; BAB15608). {ECO:0000305}.	cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAAAATTGCTGCAATCAAAGC	0.348																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(550-552)Gca>Cca		cell division cycle 73							51	47	48					1																	193111017		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111017G>C	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.550G>C	1.37:g.193111017G>C	ENSP00000356405:p.Ala184Pro						p.A184P	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	734	+			184	AIKA -> CNQT (in Ref. 2; BAB15608).				A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.550G>C	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576953	0.86645	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.86865	-2.18	6.03	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.77616	2.38	0.80722	D	1	D	0.63046	0.992	D	0.63488	0.915	D	0.92472	0.5986	10	0.42905	T	0.14	-17.1651	16.5522	0.84475	0.0:0.0:0.8684:0.1316	.	184	Q6P1J9	CDC73_HUMAN	P	184	ENSP00000356405:A184P	ENSP00000356405:A184P	A	+	1	0	CDC73	191377640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	1.515000	0.48885	0.655000	0.94253	GCA		0.348	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		8	11	0	0	0	1	0	8	11					C	193111017	G	C	193111017	3	2	321	1	0	0	0	0	1	0	0	0	3085	1319	46	4	576	4	CDC73	1	193111017	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	7004963	193111017	56139604	6	32215											
URB2	9816	broad.mit.edu	37	chr1	229772950	229772950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagctggacccgaaggtAtagaacctagaggagaaatt	11	7	0	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:229772950A>G	ENST00000258243.2	+	4	2726	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	864						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCCGAAGGTATAGAACCTAG	0.502																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2590-2592)Ata>Gta		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							87	90	89					1																	229772950		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229772950A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2590A>G	1.37:g.229772950A>G	ENSP00000258243:p.Ile864Val						p.I864V	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	2726	+			864					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.2590A>G	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.006860	0.00426	.	.	ENSG00000135763	ENST00000258243	T	0.28895	1.59	4.95	-9.32	0.00643	.	1.541840	0.03467	N	0.213099	T	0.07954	0.0199	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16660	-1.0395	9	.	.	.	0.577	3.4998	0.07669	0.5121:0.1474:0.191:0.1495	.	864	Q14146	URB2_HUMAN	V	864	ENSP00000258243:I864V	.	I	+	1	0	URB2	227839573	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.635000	0.05471	-1.843000	0.01179	-3.003000	0.00076	ATA		0.502	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		39	70	0	0	0	1	0	39	70					G	229772950	A	G	229772950	3	3	321	1	0	0	0	0	1	0	0	0	17022	449	16	3	2600	3	URB2	1	229772950	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	36661933	229772950	19477671	7	32216											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	37	0	0	0	1	0	19	37					T	209113112	C	T	209113112	3	4	321	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		209113112	34086261	8	32217											
STK36	27148	broad.mit.edu	37	chr2	219544418	219544418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgcatcttgactcaggCctataaacgcatggctgagg	11	11	3	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:219544418C>T	ENST00000295709.3	+	8	1193	c.914C>T	c.(913-915)gCc>gTc	p.A305V	STK36_ENST00000392105.3_Missense_Mutation_p.A305V|STK36_ENST00000392106.2_Missense_Mutation_p.A305V|STK36_ENST00000440309.1_Missense_Mutation_p.A305V	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGACTCAGGCCTATAAACGC	0.557																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(913-915)gCc>gTc		serine/threonine kinase 36							51	55	53					2																	219544418		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219544418C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.914C>T	2.37:g.219544418C>T	ENSP00000295709:p.Ala305Val					STK36_ENST00000440309.1_Missense_Mutation_p.A305V|STK36_ENST00000392106.2_Missense_Mutation_p.A305V|STK36_ENST00000392105.3_Missense_Mutation_p.A305V	p.A305V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	8	1193	+		Renal(207;0.0915)	305						Missense_Mutation	SNP	ENST00000295709.3	37	c.914C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034137	0.54896	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.38	5.38	0.77491	.	0.000000	0.45126	D	0.000386	T	0.70962	0.3284	L	0.29908	0.895	0.58432	D	0.999996	P;P	0.45594	0.633;0.862	B;P	0.46208	0.206;0.507	T	0.74825	-0.3533	10	0.72032	D	0.01	-16.5973	17.5021	0.87734	0.0:1.0:0.0:0.0	.	305;305	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	V	305	ENSP00000295709:A305V;ENSP00000375955:A305V;ENSP00000375954:A305V;ENSP00000394095:A305V	ENSP00000295709:A305V	A	+	2	0	STK36	219252662	1.000000	0.71417	0.977000	0.42913	0.295000	0.27426	3.487000	0.53222	2.802000	0.96397	0.655000	0.94253	GCC		0.557	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			19	48	0	0	0	1	0	19	48					T	219544418	C	T	219544418	3	4	321	1	0	0	0	0	1	0	0	0	15301	739	26	2	940	2	STK36	2	219544418	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10431306	219544418	23654955	9	32218											
ARMC9	80210	broad.mit.edu	37	chr2	232135764	232135764	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatggccaggctcatcaatGcttttgcgtcactggcagaa	10	11	3	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:232135764G>C	ENST00000349938.4	+	13	1383	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	397						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)		GCTCATCAATGCTTTTGCGTC	0.493																																						ENST00000349938.4																			0				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						c.(1189-1191)Gct>Cct		armadillo repeat containing 9							103	84	90					2																	232135764		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232135764G>C	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.1189G>C	2.37:g.232135764G>C	ENSP00000258417:p.Ala397Pro					ARMC9_ENST00000483477.1_3'UTR	p.A397P	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	13	1383	+		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)	397					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1189G>C	CCDS2484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.676073|4.676073	0.88445|0.88445	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447|ENST00000424740	T;T;T|.	0.53423|.	0.62;0.62;0.62|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.054255|.	0.64402|.	D|.	0.000001|.	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.76494|.	0.999|.	D|.	0.72338|.	0.977|.	T|T	0.73304|0.73304	-0.4025|-0.4025	10|5	0.72032|.	D|.	0.01|.	-17.0194|-17.0194	15.1191|15.1191	0.72429|0.72429	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	397|.	Q7Z3E5|.	ARMC9_HUMAN|.	P|I	397;397;114;39|99	ENSP00000258417:A397P;ENSP00000392086:A114P;ENSP00000411778:A39P|.	ENSP00000258417:A397P|.	A|M	+|+	1|3	0|0	ARMC9|ARMC9	231844008|231844008	1.000000|1.000000	0.71417|0.71417	0.470000|0.470000	0.27216|0.27216	0.989000|0.989000	0.77384|0.77384	8.963000|8.963000	0.93385|0.93385	2.469000|2.469000	0.83416|0.83416	0.650000|0.650000	0.86243|0.86243	GCT|ATG		0.493	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		12	33	0	0	0	1	0	12	33					C	232135764	G	C	232135764	3	2	321	1	0	0	0	0	1	0	0	0	958	1319	46	4	1235	4	ARMC9	2	232135764	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	12591346	232135764	11063609	10	32219											
CD96	10225	broad.mit.edu	37	chr3	111319659	111319659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagggtacatagtaataaaCcagcccaatcagacaacttg	7	10	1	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:111319659C>T	ENST00000283285.5	+	8	1164	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	CD96_ENST00000438817.2_Missense_Mutation_p.P329S|CD96_ENST00000352690.4_Missense_Mutation_p.P329S	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	345	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGTAATAAACCAGCCCAATC	0.378									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(985-987)Cca>Tca		CD96 molecule							114	114	114					3																	111319659		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111319659C>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1033C>T	3.37:g.111319659C>T	ENSP00000283285:p.Pro345Ser					CD96_ENST00000438817.2_Missense_Mutation_p.P329S|CD96_ENST00000283285.5_Missense_Mutation_p.P345S	p.P329S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			7	1225	+			345			Ig-like C2-type.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.985C>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145105	0.06627	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.64085	-0.06;-0.08;-0.07	5.04	0.888	0.19206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.578294	0.16707	N	0.202880	T	0.38453	0.1041	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.30179	0.271;0.23;0.058;0.058	B;B;B;B	0.32805	0.153;0.094;0.056;0.056	T	0.17349	-1.0372	10	0.21540	T	0.41	-1.1036	4.0208	0.09665	0.1664:0.5227:0.0:0.3109	.	329;329;345;329	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	S	329;345;329	ENSP00000342040:P329S;ENSP00000283285:P345S;ENSP00000389801:P329S	ENSP00000283285:P345S	P	+	1	0	CD96	112802349	0.000000	0.05858	0.239000	0.24122	0.408000	0.30992	-0.532000	0.06164	0.178000	0.19917	0.650000	0.86243	CCA		0.378	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			18	42	0	0	0	1	0	18	42					T	111319659	C	T	111319659	3	4	321	1	0	0	0	0	1	0	0	0	3048	507	18	2	1063	2	CD96	3	111319659	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		111319659	86702771	11	32220											
PPM1L	151742	broad.mit.edu	37	chr3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagcaatgaagaagcagttCgattcatcaaggagcgcttg	11	8	3	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			4	Substitution - Nonsense(4)	p.R315*(2)|p.R136*(2)	large_intestine(4)	breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(943-945)Cga>Tga		protein phosphatase, Mg2+/Mn2+ dependent, 1L							105	96	99					3																	160786805		2203	4300	6503	SO:0001587	stop_gained	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786805C>T	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	16381	protein-coding gene	gene with protein product	"PP2Cepsilon", "Protein phosphatase 2C epsilon isoform"	611931	"protein phosphatase 1 (formerly 2C)-like"			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.943C>T	3.37:g.160786805C>T	ENSP00000417659:p.Arg315*					PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*	p.R315*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	1044	+			315			PP2C-like.		Q2M3J2|Q96NM7	Nonsense_Mutation	SNP	ENST00000498165.1	37	c.943C>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048756	0.75846	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.0648	0.64821	0.1511:0.8489:0.0:0.0	.	.	.	.	X	315;136;188	.	ENSP00000295839:R188X	R	+	1	2	PPM1L	162269499	0.998000	0.40836	0.998000	0.56505	0.853000	0.48598	3.777000	0.55364	2.388000	0.81334	0.650000	0.86243	CGA		0.473	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		4	96	0	0	0	1	0	4	96					T	160786805	C	T	160786805	4	4	321	1	0	0	0	0	0	1	0	0	12344	876	31	1	957	1	PPM1L	3	160786805	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	49467146	160786805	37235625	12	32221											
SLIT2	9353	broad.mit.edu	37	chr4	20618726	20618726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcccatggcacatgccaGcccagcagccaggcaggctt	12	15	0	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:20618726G>A	ENST00000504154.1	+	35	4293	c.4041G>A	c.(4039-4041)caG>caA	p.Q1347Q	SLIT2_ENST00000273739.5_Silent_p.Q1360Q|SLIT2_ENST00000503823.1_Silent_p.Q1339Q|SLIT2_ENST00000503837.1_Silent_p.Q1343Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1347	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GCACATGCCAGCCCAGCAGCC	0.577																																						ENST00000504154.1																			0				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						c.(4039-4041)caG>caA		slit homolog 2 (Drosophila)							56	55	55					4																	20618726		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618726G>A	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.4041G>A	4.37:g.20618726G>A						SLIT2_ENST00000503837.1_Silent_p.Q1343Q|SLIT2_ENST00000503823.1_Silent_p.Q1339Q|SLIT2_ENST00000273739.5_Silent_p.Q1360Q	p.Q1347Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			35	4293	+			1347			EGF-like 7.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.4041G>A	CCDS3426.1																																																																																				0.577	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			7	72	0	0	0	1	0	7	72					A	20618726	G	A	20618726	2	1	321	1	0	0	0	0	0	0	0	1	14740	962	34	2		2	SLIT2	4	20618726	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		20618726	170535550	13	32222											
ATP8A1	10396	broad.mit.edu	37	chr4	42414962	42414962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcctctgtttcgtggTatcatatgctcttatcactt	9	10	4	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:42414962T>C	ENST00000381668.5	-	37	3697	c.3466A>G	c.(3466-3468)Acc>Gcc	p.T1156A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T1141A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1156					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTTTCGTGGTATCATATGCT	0.463																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3466-3468)Acc>Gcc		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						167	122	138					4																	42414962		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42414962T>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3466A>G	4.37:g.42414962T>C	ENSP00000371084:p.Thr1156Ala					ATP8A1_ENST00000264449.10_Missense_Mutation_p.T1141A	p.T1156A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			37	3697	-			1156					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.3466A>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857908	0.91433	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.62232	0.06;0.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80116	0.4564	M	0.86502	2.82	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.989	P;P;P	0.60949	0.839;0.881;0.881	D	0.84188	0.0443	10	0.87932	D	0	.	15.9839	0.80133	0.0:0.0:0.0:1.0	.	1141;1156;1148	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	A	1156;1141	ENSP00000371084:T1156A;ENSP00000264449:T1141A	ENSP00000264449:T1141A	T	-	1	0	ATP8A1	42109719	1.000000	0.71417	0.989000	0.46669	0.955000	0.61496	7.418000	0.80167	2.171000	0.68590	0.482000	0.46254	ACC		0.463	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		10	38	0	0	0	1	0	10	38					C	42414962	T	C	42414962	3	2	321	1	0	0	0	0	1	0	0	0	1192	1638	57	3	32	3	ATP8A1	4	42414962	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08	21796236	42414962	148739314	14	32223											
FAT4	79633	broad.mit.edu	37	chr4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaaagagatccttctcCggcagagtggagtaaaggtg	13	8	2	2	rs201859188		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:126373545C>T	ENST00000394329.3	+	9	11387	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3792					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						GATCCTTCTCCGGCAGAGTGG	0.483																																						ENST00000394329.3																			0				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						c.(11374-11376)Cgg>Tgg		FAT atypical cadherin 4		C	TRP/ARG	0,4406		0,0,2203	69	68	68		11374	2.8	0.3	4		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3792/4982	126373545	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373545C>T	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.11374C>T	4.37:g.126373545C>T	ENSP00000377862:p.Arg3792Trp					FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	p.R3792W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11387	+			3792					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11374C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904362	0.52333	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.86;-1.0	5.66	2.85	0.33270	.	0.000000	0.31747	U	0.007130	T	0.78679	0.4321	L	0.40543	1.245	0.46798	D	0.999203	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.987;0.994	T	0.77088	-0.2717	10	0.72032	D	0.01	.	10.3233	0.43780	0.3927:0.4807:0.1265:0.0	.	2090;3792;3792	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	3792;2090	ENSP00000377862:R3792W;ENSP00000335169:R2090W	ENSP00000335169:R2090W	R	+	1	2	FAT4	126592995	0.998000	0.40836	0.311000	0.25182	0.850000	0.48378	1.403000	0.34612	0.270000	0.21984	0.561000	0.74099	CGG		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	55	0	0	0	1	0	18	55					T	126373545	C	T	126373545	3	4	321	1	0	0	0	0	1	0	0	0	5692	643	23	1	11408	1	FAT4	4	126373545	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	83958583	126373545	64780731	15	32224											
TERT	7015	broad.mit.edu	37	chr5	1294250	1294250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggacccctgcccaaCgggcgtccgctccggctcag	13	19	1	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:1294250C>T	ENST00000310581.5	-	2	808	c.751G>A	c.(751-753)Gtt>Att	p.V251I	TERT_ENST00000508104.2_Missense_Mutation_p.V251I|TERT_ENST00000334602.6_Missense_Mutation_p.V251I|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Missense_Mutation_p.V251I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	251	Linker.				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)	CCCTGCCCAACGGGCGTCCGC	0.726									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				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						c.(751-753)Gtt>Att		telomerase reverse transcriptase							11	11	11					5																	1294250		2170	4254	6424	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1294250C>T	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.751G>A	5.37:g.1294250C>T	ENSP00000309572:p.Val251Ile					TERT_ENST00000334602.6_Missense_Mutation_p.V251I|TERT_ENST00000296820.5_Missense_Mutation_p.V251I|TERT_ENST00000508104.2_Missense_Mutation_p.V251I	p.V251I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	808	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		251			Linker.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.751G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	7.610	0.674587	0.14841	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96491	-4.03;-4.0;-3.94;-4.0	2.9	-4.51	0.03483	.	1.389510	0.04557	U	0.390987	D	0.86640	0.5981	N	0.08118	0	0.09310	N	1	B;B;B	0.31859	0.343;0.18;0.232	B;B;B	0.15870	0.014;0.012;0.006	T	0.82526	-0.0413	10	0.17832	T	0.49	.	6.078	0.19925	0.0:0.2586:0.5037:0.2378	.	251;251;251	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	I	251	ENSP00000309572:V251I;ENSP00000296820:V251I;ENSP00000334346:V251I;ENSP00000426042:V251I	ENSP00000296820:V251I	V	-	1	0	TERT	1347250	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.394000	0.02518	-1.254000	0.02485	0.462000	0.41574	GTT		0.726	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			6	8	0	0	0	1	0	6	8					T	1294250	C	T	1294250	3	4	321	1	0	0	0	0	1	0	0	0	15761	536	19	1	2707	1	TERT	5	1294250	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		1294250	179621010	16	32225											
KIF4B	285643	broad.mit.edu	37	chr5	154395557	154395557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagcagctgccaacaagcGactcaaggatgctctccaga	11	13	2	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:154395557G>A	ENST00000435029.4	+	1	2298	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	713	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)	p.G748V(2)		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)			GCCAACAAGCGACTCAAGGAT	0.483																																						ENST00000435029.4																			2	Substitution - Missense(2)	p.G748V(2)	ovary(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2137-2139)cGa>cAa		kinesin family member 4B							88	89	88					5																	154395557		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395557G>A	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.2138G>A	5.37:g.154395557G>A	ENSP00000387875:p.Arg713Gln						p.R713Q	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2298	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	713			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2138G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.613083	0.66672	.	.	ENSG00000226650	ENST00000435029	T	0.12984	2.63	2.54	2.54	0.30619	.	.	.	.	.	T	0.32102	0.0818	M	0.73372	2.23	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	T	0.03184	-1.1063	9	0.37606	T	0.19	.	10.7682	0.46305	0.0:0.0:1.0:0.0	.	713	Q2VIQ3	KIF4B_HUMAN	Q	713	ENSP00000387875:R713Q	ENSP00000387875:R713Q	R	+	2	0	KIF4B	154375750	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.386000	0.59620	1.138000	0.42230	0.563000	0.77884	CGA		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			28	72	0	0	0	1	0	28	72					A	154395557	G	A	154395557	3	1	321	1	0	0	0	0	1	0	0	0	8304	1058	37	1	2140	1	KIF4B	5	154395557	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	153101307	154395557	26519703	17	32226											
GPRC6A	222545	broad.mit.edu	37	chr6	117130562	117130562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgacagccttaactcttGgcatgtagctggaatagtca	9	9	2	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr6:117130562G>A	ENST00000310357.3	-	2	434	c.413C>T	c.(412-414)cCa>cTa	p.P138L	GPRC6A_ENST00000530250.1_Missense_Mutation_p.P138L|GPRC6A_ENST00000368549.3_Missense_Mutation_p.P138L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	138					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)		CTTAACTCTTGGCATGTAGCT	0.443																																						ENST00000310357.3																			0				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						c.(412-414)cCa>cTa		G protein-coupled receptor, family C, group 6, member A							96	91	93					6																	117130562		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130562G>A	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.413C>T	6.37:g.117130562G>A	ENSP00000309493:p.Pro138Leu					GPRC6A_ENST00000368549.3_Missense_Mutation_p.P138L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P138L	p.P138L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	434	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	138					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.413C>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543375	0.86022	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.86297	-2.1;-2.1;-2.1	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.303270	0.28946	N	0.013636	D	0.93035	0.7783	M	0.81682	2.555	0.45806	D	0.998687	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.85130	0.959;0.964;0.997	D	0.93612	0.6940	10	0.72032	D	0.01	.	18.182	0.89781	0.0:0.0:1.0:0.0	.	138;138;138	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	L	138	ENSP00000309493:P138L;ENSP00000357537:P138L;ENSP00000433465:P138L	ENSP00000309493:P138L	P	-	2	0	GPRC6A	117237255	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	8.467000	0.90390	2.531000	0.85337	0.585000	0.79938	CCA		0.443	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			13	37	0	0	0	1	0	13	37					A	117130562	G	A	117130562	3	1	321	1	0	0	0	0	1	0	0	0	6728	1348	47	2	2387	2	GPRC6A	6	117130562	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		117130562	53984505	18	32227											
CLIP2	7461	broad.mit.edu	37	chr7	73770855	73770855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaagcgtatggccatgGgtgtgtcagcactgacccac	12	12	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr7:73770855G>A	ENST00000395060.1	+	4	919	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	CLIP2_ENST00000223398.6_Missense_Mutation_p.G307S|CLIP2_ENST00000361545.5_Missense_Mutation_p.G307S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	307						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TATGGCCATGGGTGTGTCAGC	0.617																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(919-921)Ggt>Agt		CAP-GLY domain containing linker protein 2							112	90	97					7																	73770855		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73770855G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.919G>A	7.37:g.73770855G>A	ENSP00000378500:p.Gly307Ser					CLIP2_ENST00000361545.5_Missense_Mutation_p.G307S|CLIP2_ENST00000395060.1_Missense_Mutation_p.G307S	p.G307S	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			5	1246	+			307					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.919G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959703	0.92791	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.72615	-0.67;-0.67;-0.67	4.98	4.98	0.66077	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66960	-0.5791	10	0.05351	T	0.99	-20.3597	16.9936	0.86360	0.0:0.0:1.0:0.0	.	307;307	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	S	307	ENSP00000223398:G307S;ENSP00000355151:G307S;ENSP00000378500:G307S	ENSP00000223398:G307S	G	+	1	0	CLIP2	73408791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.245000	0.95431	2.584000	0.87258	0.561000	0.74099	GGT		0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		26	66	0	0	0	1	0	26	66					A	73770855	G	A	73770855	3	1	321	1	0	0	0	0	1	0	0	0	3533	1232	43	2	933	2	CLIP2	7	73770855	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		73770855	85367808	19	32228											
BLK	640	broad.mit.edu	37	chr8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggacgccccgccactgcCgcccctggtgagtgattgcc	12	17	0	2	rs142352008	byFrequency	TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:11400849C>T	ENST00000259089.4	+	2	708	c.116C>T	c.(115-117)cCg>cTg	p.P39L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	39					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16043	0.0		0.003	False		,,,				2504	0.0					ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(115-117)cCg>cTg		B lymphoid tyrosine kinase		C	LEU/PRO	5,4401	9.9+/-24.2	0,5,2198	38	44	42		116	5.5	0.9	8	dbSNP_134	42	30,8570	20.4+/-63.3	0,30,4270	yes	missense	BLK	NM_001715.2	98	0,35,6468	TT,TC,CC		0.3488,0.1135,0.2691	probably-damaging	39/506	11400849	35,12971	2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11400849C>T	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.116C>T	8.37:g.11400849C>T	ENSP00000259089:p.Pro39Leu					BLK_ENST00000529894.1_Intron	p.P39L	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	2	708	+			39					Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.116C>T	CCDS5982.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	11.99	1.802484	0.31869	0.001135	0.003488	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.76578	-1.03	5.54	5.54	0.83059	Src homology-3 domain (1);	0.000000	0.43416	D	0.000571	T	0.57533	0.2060	N	0.08118	0	0.80722	D	1	P	0.36412	0.552	B	0.24701	0.055	T	0.66148	-0.5996	10	0.66056	D	0.02	.	14.9922	0.71396	0.0:1.0:0.0:0.0	.	39	P51451	BLK_HUMAN	L	39	ENSP00000259089:P39L	ENSP00000259089:P39L	P	+	2	0	BLK	11438258	0.984000	0.35163	0.878000	0.34440	0.012000	0.07955	3.424000	0.52764	2.591000	0.87537	0.555000	0.69702	CCG		0.532	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			17	17	0	0	0	1	0	17	17					T	11400849	C	T	11400849	3	4	321	1	0	0	0	0	1	0	0	0	1444	652	23	1	118	1	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11400849	134963173	20	32229											
GPR172A	79581	broad.mit.edu	37	chr8	145584537	145584537	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctccctgctgcatggcggGggccggccggcattgctggc	17	14	0	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:145584537G>C	ENST00000532887.1	+	5	1783	c.1200G>C	c.(1198-1200)ggG>ggC	p.G400G	SLC52A2_ENST00000527078.1_Silent_p.G400G|SLC52A2_ENST00000402965.1_Silent_p.G400G|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000329994.2_Silent_p.G400G|SLC52A2_ENST00000540505.1_Silent_p.G312G|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000530047.1_Silent_p.G400G|SLC52A2_ENST00000526752.1_Missense_Mutation_p.G69R			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	400					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGCATGGCGGGGGCCGGCCGG	0.657																																						ENST00000526752.1																			0											c.(205-207)Ggg>Cgg		solute carrier family 52 (riboflavin transporter), member 2							74	66	69					8																	145584537		2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584537G>C	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1200G>C	8.37:g.145584537G>C						SLC52A2_ENST00000527078.1_Silent_p.G400G|SLC52A2_ENST00000540505.1_Silent_p.G312G|SLC52A2_ENST00000329994.2_Silent_p.G400G|SLC52A2_ENST00000530047.1_Silent_p.G400G|SLC52A2_ENST00000532887.1_Silent_p.G400G|SLC52A2_ENST00000402965.1_Silent_p.G400G	p.G69R			Q9HAB3	RFT3_HUMAN			2	316	+			0					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.205G>C	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	4.712	0.132306	0.08981	.	.	ENSG00000185803	ENST00000526752	D	0.89485	-2.52	5.25	-7.06	0.01568	.	0.125040	0.51477	D	0.000082	D	0.84660	0.5521	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.75654	-0.3243	7	0.87932	D	0	.	1.0941	0.01669	0.3624:0.3:0.1319:0.2057	.	.	.	.	R	69	ENSP00000433796:G69R	ENSP00000433796:G69R	G	+	1	0	GPR172A	145555345	0.000000	0.05858	0.033000	0.17914	0.487000	0.33371	-2.107000	0.01337	-0.896000	0.03915	0.456000	0.33151	GGG		0.657	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		9	102	0	0	0	1	0	9	102					C	145584537	G	C	145584537	2	2	321	1	0	0	0	0	0	0	0	1	6669	1219	43	4		4	GPR172A	8	145584537	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	134183688	145584537	779485	21	32230											
API5	8539	broad.mit.edu	37	chr11	43343605	43343605	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagaacgagcaattaaattCctttctacaaaacttaagac	5	8	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:43343605C>T	ENST00000531273.1	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	API5_ENST00000378852.3_Silent_p.F154F|API5_ENST00000420461.2_Silent_p.F100F|API5_ENST00000455725.2_Silent_p.F143F|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Silent_p.F154F			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	154	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAATTAAATTCCTTTCTACAA	0.378																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(460-462)ttC>ttT		apoptosis inhibitor 5							109	110	109					11																	43343605		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43343605C>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"API5-like 1", "fibroblast growth factor 2-interacting factor 2", "migration-inducing protein MIG8"	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.462C>T	11.37:g.43343605C>T						API5_ENST00000455725.2_Silent_p.F143F|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Silent_p.F154F|API5_ENST00000420461.2_Silent_p.F100F|API5_ENST00000531273.1_Silent_p.F154F	p.F154F	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			5	587	+			154					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.462C>T	CCDS44572.1																																																																																				0.378	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		20	46	0	0	0	1	0	20	46					T	43343605	C	T	43343605	2	4	321	1	0	0	0	0	0	0	0	1	773	854	30	2		2	API5	11	43343605	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		43343605	91662911	22	32231											
CRY2	1408	broad.mit.edu	37	chr11	45891723	45891723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgccctgtgggctttggCcgtcgcacggaccccagtgg	14	14	0	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:45891723C>T	ENST00000443527.2	+	8	1399	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	CRY2_ENST00000417225.2_Silent_p.G377G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	438	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				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)	p.G438G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCTTTGGCCGTCGCACGG	0.587																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			1	Substitution - coding silent(1)	p.G438G(1)	kidney(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1375-1377)ggC>ggT		cryptochrome 2 (photolyase-like)							77	74	75					11																	45891723		2203	4299	6502	SO:0001819	synonymous_variant	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891723C>T	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.1377C>T	11.37:g.45891723C>T						CRY2_ENST00000417225.2_Silent_p.G377G	p.G459G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			8	1399	+			438			FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).		B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	ENST00000443527.2	37	c.1377C>T	CCDS7915.2																																																																																				0.587	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		4	101	0	0	0	1	0	4	101					T	45891723	C	T	45891723	2	4	321	1	0	0	0	0	0	0	0	1	3904	726	26	2		2	CRY2	11	45891723	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	2548118	45891723	89114793	23	32232											
OR4X1	390113	broad.mit.edu	37	chr11	48285528	48285528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacagctgttgtgctggGcaatggcctcattgtggtga	14	8	1	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:48285528G>A	ENST00000320048.1	+	1	116	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	39						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						GTTGTGCTGGGCAATGGCCTC	0.463																																						ENST00000320048.1																			0				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						c.(115-117)gGc>gAc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							178	160	166					11																	48285528		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285528G>A	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.116G>A	11.37:g.48285528G>A	ENSP00000321506:p.Gly39Asp						p.G39D	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	116	+			39					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.116G>A	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864152	0.32977	.	.	ENSG00000176567	ENST00000320048	T	0.00538	6.71	4.15	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03178	0.0093	H	0.96301	3.8	0.18873	N	0.999985	D	0.76494	0.999	D	0.64144	0.922	T	0.16928	-1.0386	9	0.87932	D	0	.	9.5157	0.39104	0.0:0.0:0.7894:0.2106	.	39	Q8NH49	OR4X1_HUMAN	D	39	ENSP00000321506:G39D	ENSP00000321506:G39D	G	+	2	0	OR4X1	48242104	0.948000	0.32251	0.998000	0.56505	0.111000	0.19643	3.673000	0.54591	2.270000	0.75569	0.563000	0.77884	GGC		0.463	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		11	30	0	0	0	1	0	11	30					A	48285528	G	A	48285528	3	1	321	1	0	0	0	0	1	0	0	0	11084	1203	42	2	118	2	OR4X1	11	48285528	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	2393805	48285528	86720988	24	32233											
MYO7A	4647	broad.mit.edu	37	chr11	76873968	76873968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccaactacatcccccccAagaacaaccatgagacccag	5	18	0	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:76873968A>G	ENST00000409709.3	+	14	1896	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	MYO7A_ENST00000409893.1_Missense_Mutation_p.K542E|MYO7A_ENST00000409619.2_Missense_Mutation_p.K531E|MYO7A_ENST00000458637.2_Missense_Mutation_p.K542E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	542	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCCCCCCAAGAACAACCA	0.567																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1624-1626)Aag>Gag		myosin VIIA							208	230	223					11																	76873968		2101	4216	6317	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873968A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1624A>G	11.37:g.76873968A>G	ENSP00000386331:p.Lys542Glu					MYO7A_ENST00000409619.2_Missense_Mutation_p.K531E|MYO7A_ENST00000458637.2_Missense_Mutation_p.K542E|MYO7A_ENST00000409893.1_Missense_Mutation_p.K542E	p.K542E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			14	1896	+			542			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1624A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560238	0.86335	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.02	5.02	0.67125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	M	0.84433	2.695	0.80722	D	1	P;D;P	0.58620	0.911;0.983;0.798	P;P;P	0.59357	0.7;0.856;0.676	D	0.86674	0.1912	10	0.87932	D	0	.	14.8886	0.70590	1.0:0.0:0.0:0.0	.	542;542;542	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	E	542;542;542;531;541;541;541	ENSP00000386331:K542E;ENSP00000386689:K542E;ENSP00000392185:K542E;ENSP00000386635:K531E	ENSP00000340325:K541E	K	+	1	0	MYO7A	76551616	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.761000	0.91691	2.107000	0.64212	0.402000	0.26972	AAG		0.567	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		97	156	0	0	0	1	0	97	156					G	76873968	A	G	76873968	3	3	321	1	0	0	0	0	1	0	0	0	10082	131	5	3	1674	3	MYO7A	11	76873968	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	28588440	76873968	58132548	25	32234											
SSH1	54434	broad.mit.edu	37	chr12	109183011	109183011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaaggatcccaaataTagcatcatcctgcaaggaag	8	8	1	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr12:109183011T>C	ENST00000326495.5	-	15	1996	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	SSH1_ENST00000360239.3_Missense_Mutation_p.I323V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	635					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)			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						ATCCCAAATATAGCATCATCC	0.547																																						ENST00000326495.5																			0				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						c.(1903-1905)Ata>Gta		slingshot protein phosphatase 1							18	18	18					12																	109183011		2203	4299	6502	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109183011T>C	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.1903A>G	12.37:g.109183011T>C	ENSP00000315713:p.Ile635Val					SSH1_ENST00000360239.3_Missense_Mutation_p.I323V	p.I635V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	1996	-			635					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1903A>G	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	2.784	-0.252832	0.05829	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.81330	-1.48;-1.48	4.8	0.682	0.17992	.	2.309250	0.01167	N	0.006793	T	0.73102	0.3544	L	0.47716	1.5	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.001;0.005	T	0.44817	-0.9303	10	0.15066	T	0.55	-4.001	4.976	0.14140	0.0:0.1977:0.285:0.5173	.	635;323	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	V	323;635	ENSP00000353374:I323V;ENSP00000315713:I635V	ENSP00000315713:I635V	I	-	1	0	SSH1	107707140	0.164000	0.22935	0.015000	0.15790	0.898000	0.52572	0.982000	0.29539	-0.066000	0.12998	0.454000	0.30748	ATA		0.547	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		4	12	0	0	0	1	0	4	12					C	109183011	T	C	109183011	3	2	321	1	0	0	0	0	1	0	0	0	15183	1406	49	3	1250	3	SSH1	12	109183011	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		109183011	24668884	26	32235											
POSTN	10631	broad.mit.edu	37	chr13	38171320	38171320	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaaaaaagagacttaCgttttctgtccacagatgga	8	6	1	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr13:38171320C>T	ENST00000379747.4	-	2	336		c.e2+1		POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AAGAGACTTACGTTTTCTGTC	0.378																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.e2+1		periostin, osteoblast specific factor							90	88	89					13																	38171320		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38171320C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.218+1G>A	13.37:g.38171320C>T						POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site		NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	2	336	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37		CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013700	0.75161	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37069320	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.433000	0.80362	2.764000	0.94973	0.655000	0.94253	.		0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	10	13	0	0	0	1	0	10	13					T	38171320	C	T	38171320	5	4	321	1	0	0	0	0	0	0	1	0	12259	550	19	1	2379	1	POSTN	13	38171320	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		38171320	76998558	27	32236											
SYNM	23336	broad.mit.edu	37	chr15	99673043	99673043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggttcctggagagacgCggacagtaggaatgaccagg	16	9	0	2	rs372660853	byFrequency	TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr15:99673043C>T	ENST00000560674.1	+	5	3153	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	SYNM_ENST00000328642.7_Missense_Mutation_p.A1180V|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.A1492V|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGGAGAGACGCGGACAGTAGG	0.572													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19668	0.0		0.0	False		,,,				2504	0.001				Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4474-4476)gCg>gTg		synemin, intermediate filament protein		C	VAL/ALA,VAL/ALA	2,4072		0,2,2035	112	118	116		4477,3541	1	0	15		116	0,8372		0,0,4186	no	missense,missense	SYNM	NM_145728.2,NM_015286.5	64,64	0,2,6221	TT,TC,CC		0.0,0.0491,0.0161	benign,benign	1493/1566,1181/1254	99673043	2,12444	2037	4186	6223	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673043C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2684C>T	15.37:g.99673043C>T	ENSP00000453040:p.Ala895Val					SYNM_ENST00000560674.1_Missense_Mutation_p.A895V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.A1180V	p.A1492V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4595	+			1493			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.4475C>T		.	.	.	.	.	.	.	.	.	.	C	15.33	2.801670	0.50315	4.91E-4	0.0	ENSG00000182253	ENST00000336292;ENST00000328642	T;D	0.84298	2.13;-1.83	5.15	1.01	0.19927	.	.	.	.	.	T	0.73125	0.3547	.	.	.	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.10450	0.002;0.005	T	0.60637	-0.7224	8	0.40728	T	0.16	.	4.3715	0.11249	0.1129:0.5405:0.1951:0.1515	.	1493;1180	O15061;C9JIE4	SYNEM_HUMAN;.	V	1492;1180	ENSP00000336775:A1492V;ENSP00000330469:A1180V	ENSP00000330469:A1180V	A	+	2	0	SYNM	97490566	0.000000	0.05858	0.001000	0.08648	0.419000	0.31324	-0.123000	0.10611	1.159000	0.42565	0.655000	0.94253	GCG		0.572	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		4	125	0	0	0	1	0	4	125					T	99673043	C	T	99673043	3	4	321	1	0	0	0	0	1	0	0	0	15452	768	27	1	4491	1	SYNM	15	99673043	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		99673043	2858349	28	32237											
PPL	5493	broad.mit.edu	37	chr16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggtgtagctgtagcccCgcgagatcaggccctggcgg	17	12	1	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	419					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1255-1257)cGg>cAg		periplakin							82	65	71					16																	4944606		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944606C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1256G>A	16.37:g.4944606C>T	ENSP00000340510:p.Arg419Gln					PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	p.R419Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			12	1345	-			419					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1256G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407678	0.83340	.	.	ENSG00000118898	ENST00000345988	T	0.74842	-0.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	L	0.43923	1.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.82675	-0.0340	10	0.54805	T	0.06	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	419	O60437	PEPL_HUMAN	Q	419	ENSP00000340510:R419Q	ENSP00000340510:R419Q	R	-	2	0	PPL	4884607	1.000000	0.71417	0.861000	0.33841	0.385000	0.30292	7.182000	0.77689	2.756000	0.94617	0.561000	0.74099	CGG		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		18	45	0	0	0	1	0	18	45					T	4944606	C	T	4944606	3	4	321	1	0	0	0	0	1	0	0	0	12334	652	23	1	4058	1	PPL	16	4944606	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		4944606	85410147	29	32238											
CDYL2	124359	broad.mit.edu	37	chr16	80718589	80718589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccccattttccatcccGttctgagactttttcagggg	9	13	2	1	rs140729164		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:80718589G>A	ENST00000570137.2	-	2	617	c.462C>T	c.(460-462)aaC>aaT	p.N154N	CDYL2_ENST00000562812.1_Silent_p.N154N|CDYL2_ENST00000566173.1_Silent_p.N154N|CDYL2_ENST00000563890.1_Silent_p.N154N|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	154						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTTCCATCCCGTTCTGAGACT	0.532																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(460-462)aaC>aaT		chromodomain protein, Y-like 2		G		0,4406		0,0,2203	98	103	101		462	-5.1	0	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDYL2	NM_152342.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		154/507	80718589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718589G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.462C>T	16.37:g.80718589G>A						CDYL2_ENST00000563890.1_Silent_p.N154N|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.N154N|CDYL2_ENST00000566173.1_Silent_p.N154N	p.N154N	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			2	617	-			154					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.462C>T	CCDS32493.1																																																																																				0.532	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		23	73	0	0	0	1	0	23	73					A	80718589	G	A	80718589	2	1	321	1	0	0	0	0	0	0	0	1	3186	1136	40	1		1	CDYL2	16	80718589	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	75773983	80718589	9636164	30	32239											
MRM1	79154	broad.mit.edu	37	chr17	34958397	34958397	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggctggagcttctgtTtggcatgaccccgtgtctcc	11	14	3	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr17:34958397T>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.F53S|MRM1_ENST00000585770.1_5'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						GAGCTTCTGTTTGGCATGACC	0.692																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(157-159)tTt>tCt		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							70	71	70					17																	34958397		2203	4300	6503	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958397T>C		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	28639	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 24C, member 1"					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958397T>C						MRM1_ENST00000585770.1_5'UTR	p.F53S	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	397	+		Breast(25;0.00957)|Ovarian(249;0.17)	53					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.158T>C	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979428	0.74360	.	.	ENSG00000129282	ENST00000250156	T	0.32515	1.45	4.79	2.36	0.29203	RNA 2-O ribose methyltransferase, substrate binding (2);	0.055963	0.64402	D	0.000001	T	0.51024	0.1650	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45220	-0.9276	10	0.54805	T	0.06	-7.5845	8.0404	0.30519	0.3939:0.0:0.0:0.6061	.	53	Q6IN84	MRM1_HUMAN	S	53	ENSP00000250156:F53S	ENSP00000250156:F53S	F	+	2	0	MRM1	32032510	1.000000	0.71417	0.985000	0.45067	0.738000	0.42128	4.941000	0.63540	0.295000	0.22570	0.454000	0.30748	TTT		0.692	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		45	102	0	0	0	1	0	45	102					C	34958397	T	C	34958397	1	2	321	0	1	0	0	0	0	0	0	0	9771	1841	64	3		3	MRM1	17	34958397	IGR	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		34958397	46236813	31	32240											
CBLC	23624	broad.mit.edu	37	chr19	45284225	45284225	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagctgcacgcactcttCcccgggggaaagtactgtgg	14	12	1	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:45284225C>T	ENST00000270279.3	+	2	480	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CBLC_ENST00000341505.4_Silent_p.F139F	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	139	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				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)				ACGCACTCTTCCCCGGGGGAA	0.617			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(415-417)ttC>ttT		Cbl proto-oncogene C, E3 ubiquitin protein ligase							77	70	73					19																	45284225		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284225C>T	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.417C>T	19.37:g.45284225C>T						CBLC_ENST00000341505.4_Silent_p.F139F	p.F139F	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			2	480	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	139			4H.|Cbl-PTB.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.417C>T	CCDS12643.1																																																																																				0.617	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		28	31	0	0	0	1	0	28	31					T	45284225	C	T	45284225	2	4	321	1	0	0	0	0	0	0	0	1	2702	854	30	2		2	CBLC	19	45284225	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		45284225	13844758	32	32241											
NLRP5	126206	broad.mit.edu	37	chr19	56515295	56515295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatcttcagaatcgacCacatgctctattccacagtt	5	11	3	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:56515295C>T	ENST00000390649.3	+	2	276	c.276C>T	c.(274-276)acC>acT	p.T92T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	92	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		CAGAATCGACCACATGCTCTA	0.453																																						ENST00000390649.3																			0				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						c.(274-276)acC>acT		NLR family, pyrin domain containing 5							89	86	87					19																	56515295		1965	4165	6130	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515295C>T	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.276C>T	19.37:g.56515295C>T							p.T92T	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	276	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	92			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.276C>T	CCDS12938.1																																																																																				0.453	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		17	18	0	0	0	1	0	17	18					T	56515295	C	T	56515295	2	4	321	1	0	0	0	0	0	0	0	1	10480	581	21	2		2	NLRP5	19	56515295	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	11231070	56515295	2613688	33	32242											
ARHGAP6	395	broad.mit.edu	37	chrX	11174686	11174686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgagtaaatagtccaCgacatcaggatcggtctcta	8	10	4	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:11174686C>T	ENST00000337414.4	-	10	2742	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V421M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V656M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V624M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V421M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V433M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V449M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	624					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|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)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAATAGTCCACGACATCAGGA	0.443																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1870-1872)Gtg>Atg		Rho GTPase activating protein 6							106	82	90					X																	11174686		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11174686C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1870G>A	X.37:g.11174686C>T	ENSP00000338967:p.Val624Met					ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V449M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V421M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V624M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V433M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V656M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V421M	p.V624M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			10	2742	-			624					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1870G>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712486	0.89112	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.25912	1.8;1.78;1.78;1.77;1.8;1.79;1.89;1.88	5.51	5.51	0.81932	.	0.000000	0.48286	D	0.000183	T	0.37892	0.1020	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	P;D;D;D;D	0.76071	0.862;0.957;0.967;0.966;0.987	T	0.34354	-0.9832	10	0.72032	D	0.01	.	17.1584	0.86797	0.0:1.0:0.0:0.0	.	433;421;624;624;624	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	M	449;421;421;624;460;624;433;656	ENSP00000438135:V449M;ENSP00000370112:V421M;ENSP00000302312:V421M;ENSP00000338967:V624M;ENSP00000370093:V460M;ENSP00000370094:V624M;ENSP00000389394:V433M;ENSP00000370108:V656M	ENSP00000302312:V421M	V	-	1	0	ARHGAP6	11084607	1.000000	0.71417	0.934000	0.37439	0.976000	0.68499	6.611000	0.74183	2.317000	0.78254	0.600000	0.82982	GTG		0.443	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		11	23	0	0	0	1	0	11	23					T	11174686	C	T	11174686	3	4	321	1	0	0	0	0	1	0	0	0	887	536	19	1	1192	1	ARHGAP6	23	11174686	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11174686	144095874	34	32243											
GRPR	2925	broad.mit.edu	37	chrX	16142351	16142351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctgctcctcctaataaCgtgtgctccagtggatgcca	9	13	0	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:16142351C>T	ENST00000380289.2	+	1	673	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	92					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCTAATAACGTGTGCTCCA	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(274-276)aCg>aTg		gastrin-releasing peptide receptor							188	148	162					X																	16142351		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142351C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.275C>T	X.37:g.16142351C>T	ENSP00000369643:p.Thr92Met		OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.T92M	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			1	673	+	Hepatocellular(33;0.183)		92					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.275C>T	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.621095	0.66787	.	.	ENSG00000126010	ENST00000380289	T	0.73469	-0.75	6.02	6.02	0.97574	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.84430	0.0576	10	0.33141	T	0.24	-22.2126	18.3084	0.90190	0.0:1.0:0.0:0.0	.	92	P30550	GRPR_HUMAN	M	92	ENSP00000369643:T92M	ENSP00000369643:T92M	T	+	2	0	GRPR	16052272	1.000000	0.71417	0.828000	0.32881	0.224000	0.24922	7.818000	0.86416	2.549000	0.85964	0.600000	0.82982	ACG		0.488	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		54	98	0	0	0	1	0	54	98					T	16142351	C	T	16142351	3	4	321	1	0	0	0	0	1	0	0	0	6808	536	19	1	277	1	GRPR	23	16142351	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4967665	16142351	139128209	35	32244											
ZNF645	158506	broad.mit.edu	37	chrX	22291550	22291550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaacaagttaccagcGcttcgcttgaaaaagttcgt	8	10	0	1	rs200886998		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:22291550G>A	ENST00000323684.1	+	1	486	c.442G>A	c.(442-444)Gct>Act	p.A148T		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	148	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGTTACCAGCGCTTCGCTTGA	0.438																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(442-444)Gct>Act		zinc finger protein 645							67	65	66					X																	22291550		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291550G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.442G>A	X.37:g.22291550G>A	ENSP00000323348:p.Ala148Thr						p.A148T	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	486	+			148					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.442G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445703	0.25987	.	.	ENSG00000175809	ENST00000323684	T	0.32272	1.46	3.3	2.43	0.29744	.	0.283763	0.34291	U	0.004092	T	0.13500	0.0327	L	0.29908	0.895	0.09310	N	1	P	0.35714	0.517	B	0.22386	0.039	T	0.13656	-1.0501	10	0.16896	T	0.51	.	4.264	0.10754	0.1365:0.2325:0.631:0.0	.	148	Q8N7E2	ZN645_HUMAN	T	148	ENSP00000323348:A148T	ENSP00000323348:A148T	A	+	1	0	ZNF645	22201471	0.059000	0.20769	0.001000	0.08648	0.001000	0.01503	0.911000	0.28584	0.778000	0.33520	-0.190000	0.12839	GCT		0.438	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		39	55	0	0	0	1	0	39	55					A	22291550	G	A	22291550	3	1	321	1	0	0	0	0	1	0	0	0	18058	1087	38	1	444	1	ZNF645	23	22291550	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	6149199	22291550	132979010	36	32245											
GPR34	2857	broad.mit.edu	37	chrX	41555137	41555137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttctgggtattcaccGtaaaagaaattccattcaaa	6	7	3	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383																																						ENST00000378142.4																			1	Substitution - Missense(1)	p.R84H(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(250-252)cGt>cAt		G protein-coupled receptor 34							111	101	104					X																	41555137		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555137G>A	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.251G>A	X.37:g.41555137G>A	ENSP00000367384:p.Arg84His					CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron	p.R84H	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN			3	535	+			84					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.251G>A	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786249	0.49997	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.72942	-0.7;-0.7	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.199385	0.46758	D	0.000278	T	0.64238	0.2580	M	0.61703	1.905	0.31444	N	0.67163	P	0.50528	0.936	B	0.35688	0.208	T	0.76263	-0.3023	10	0.66056	D	0.02	-12.6129	12.7065	0.57063	0.0864:0.0:0.9136:0.0	.	84	Q9UPC5	GPR34_HUMAN	H	84;84;37	ENSP00000367384:R84H;ENSP00000367378:R84H	ENSP00000367378:R84H	R	+	2	0	GPR34	41440081	0.996000	0.38824	0.999000	0.59377	0.995000	0.86356	3.434000	0.52841	2.466000	0.83321	0.594000	0.82650	CGT		0.383	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		4	126	0	0	0	1	0	4	126					A	41555137	G	A	41555137	3	1	321	1	0	0	0	0	1	0	0	0	6689	1145	40	1	253	1	GPR34	23	41555137	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	19263587	41555137	113715423	37	32246											
GRIPAP1	56850	broad.mit.edu	37	chrX	48830666	48830666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcactccttgctgagcCgcacaatttcctgggacaga	9	15	0	2	rs371634362		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:48830666C>T	ENST00000376441.1	-	26	2499	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	KCND1_ENST00000218176.3_5'Flank|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R777Q|GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R791Q	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	822						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.R465Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTGCTGAGCCGCACAATTTC	0.567																																						ENST00000376441.1																			1	Substitution - Missense(1)	p.R465Q(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(2464-2466)cGg>cAg		GRIP1 associated protein 1			GLN/ARG	0,3835		0,0,1632,571	62	48	53		2465	3.9	1	X		53	1,6727		0,1,2427,1872	no	missense	GRIPAP1	NM_020137.3	43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	822/842	48830666	1,10562	2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48830666C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2465G>A	X.37:g.48830666C>T	ENSP00000365624:p.Arg822Gln					GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R791Q|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R777Q	p.R822Q	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN			26	2499	-			822					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.2465G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.666511	0.88251	0.0	1.49E-4	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	.	.	.	3.93	3.93	0.45458	.	0.000000	0.53938	U	0.000053	T	0.70351	0.3214	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.70730	-0.4792	9	0.45353	T	0.12	-15.5009	10.3749	0.44077	0.0:1.0:0.0:0.0	.	822	Q4V328	GRAP1_HUMAN	Q	791;777;822;791	.	ENSP00000365608:R791Q	R	-	2	0	GRIPAP1	48715610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	1.805000	0.52779	0.548000	0.68491	CGG		0.567	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		9	24	0	0	0	1	0	9	24					T	48830666	C	T	48830666	3	4	321	1	0	0	0	0	1	0	0	0	6789	652	23	1	64	1	GRIPAP1	23	48830666	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	7275529	48830666	106439894	38	32247											
ZC4H2	55906	broad.mit.edu	37	chrX	64139085	64139085	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgcttctcaaagtaaCtttggagatgagagacactg	9	8	2	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:64139085C>A	ENST00000374839.3	-	4	505		c.e4-1		ZC4H2_ENST00000337990.2_Splice_Site|ZC4H2_ENST00000545618.1_Splice_Site|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing						nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAAAGTAACTTTGGAGATG	0.532																																						ENST00000545618.1																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.e5-1		zinc finger, C4H2 domain containing							53	44	47					X																	64139085		2203	4300	6503	SO:0001630	splice_region_variant	55906						metal ion binding|protein binding	g.chrX:64139085C>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.399-1G>T	X.37:g.64139085C>A						ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000337990.2_Splice_Site|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Splice_Site				Q9NQZ6	ZC4H2_HUMAN			5	947	-								B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Splice_Site	SNP	ENST00000374839.3	37		CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051870	0.75960	.	.	ENSG00000126970	ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7218	0.77718	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZC4H2	64055810	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.552000	0.82192	2.397000	0.81536	0.597000	0.82753	.		0.532	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684	Intron	21	49	1	0	7.87624e-14	1	8.0221e-14	21	49					A	64139085	C	A	64139085	5	1	321	1	0	0	0	0	0	0	1	0	17575	579	20	4	303	4	ZC4H2	23	64139085	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	15308419	64139085	91131475	39	32248											
DLG3	1741	broad.mit.edu	37	chrX	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgattggtggtgcggaggCgacagcctccacccgagacc	15	13	0	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:69669655C>T	ENST00000374360.3	+	4	882	c.649C>T	c.(649-651)Cga>Tga	p.R217*	DLG3_ENST00000194900.4_Nonsense_Mutation_p.R235*|DLG3_ENST00000374355.3_5'Flank|RNU4-81P_ENST00000363561.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	217	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662																																						ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(703-705)Cga>Tga		discs, large homolog 3 (Drosophila)							52	38	43					X																	69669655		2202	4293	6495	SO:0001587	stop_gained	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69669655C>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.649C>T	X.37:g.69669655C>T	ENSP00000363480:p.Arg217*					DLG3_ENST00000374360.3_Nonsense_Mutation_p.R217*	p.R235*			Q92796	DLG3_HUMAN			5	1044	+	Renal(35;0.156)		217			PDZ 2.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Nonsense_Mutation	SNP	ENST00000374360.3	37	c.703C>T	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	39	7.387823	0.98252	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	.	.	.	4.48	2.47	0.30058	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1769	0.48606	0.4343:0.5657:0.0:0.0	.	.	.	.	X	235;217	.	.	R	+	1	2	DLG3	69586380	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.699000	0.47077	0.872000	0.35775	0.436000	0.28706	CGA		0.662	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		8	16	0	0	0	1	0	8	16					T	69669655	C	T	69669655	4	4	321	1	0	0	0	0	0	1	0	0	4556	760	27	1	663	1	DLG3	23	69669655	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	5530570	69669655	85600905	40	32249											
TMEM164	84187	broad.mit.edu	37	chrX	109416566	109416566	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcctcgggacaccagActctcatgaccatgacccac	9	16	2	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:109416566A>C	ENST00000372073.1	+	7	1117	c.781A>C	c.(781-783)Act>Cct	p.T261P	TMEM164_ENST00000372072.3_Missense_Mutation_p.T112P|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.T261P|TMEM164_ENST00000288381.4_Missense_Mutation_p.T222P			Q5U3C3	TM164_HUMAN	transmembrane protein 164	261						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGGACACCAGACTCTCATGAC	0.552																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(781-783)Act>Cct		transmembrane protein 164							109	93	98					X																	109416566		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109416566A>C	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.781A>C	X.37:g.109416566A>C	ENSP00000361143:p.Thr261Pro					TMEM164_ENST00000372068.2_Missense_Mutation_p.T261P|TMEM164_ENST00000372072.3_Missense_Mutation_p.T112P|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.T222P	p.T261P			Q5U3C3	TM164_HUMAN			7	1117	+			261					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.781A>C	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	a	13.70	2.315964	0.40996	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	N	0.20401	0.57	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.17979	0.02;0.013	T	0.05716	-1.0868	10	0.32370	T	0.25	-3.7868	14.3201	0.66479	1.0:0.0:0.0:0.0	.	222;261	Q9H617;Q5U3C3	.;TM164_HUMAN	P	112;261;261;222;222	ENSP00000384075:T112P;ENSP00000361143:T261P;ENSP00000361138:T261P;ENSP00000288381:T222P	ENSP00000288381:T222P	T	+	1	0	TMEM164	109303222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.959000	0.93110	1.760000	0.52011	0.378000	0.23410	ACT		0.552	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		28	68	0	0	0	1	0	28	68					C	109416566	A	C	109416566	3	2	321	1	0	0	0	0	1	0	0	0	16076	275	10	5	803	5	TMEM164	23	109416566	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	39746911	109416566	45853994	41	32250											
CUL4B	8450	broad.mit.edu	37	chrX	119669687	119669687	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgggaacatccacttacctCtttaaattctgcttttaaca	4	10	2	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:119669687C>G	ENST00000404115.3	-	18	2613	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	CUL4B_ENST00000336592.6_Missense_Mutation_p.E725Q|CUL4B_ENST00000371322.5_Missense_Mutation_p.E720Q	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	738					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E720Q(1)|p.E738Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTTACCTCTTTAAATTCT	0.353																																						ENST00000371322.5																			2	Substitution - Missense(2)	p.E720Q(1)|p.E738Q(1)	cervix(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2158-2160)Gag>Cag		cullin 4B							149	147	147					X																	119669687		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119669687C>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2212G>C	X.37:g.119669687C>G	ENSP00000384109:p.Glu738Gln					CUL4B_ENST00000336592.6_Missense_Mutation_p.E725Q|CUL4B_ENST00000404115.3_Missense_Mutation_p.E738Q	p.E720Q	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			16	2219	-			738					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2158G>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025170	0.54683	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73897	-0.79;-0.79;-0.79	5.69	5.69	0.88448	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	L	0.46670	1.46	0.80722	D	1	B;B;B	0.19445	0.0;0.036;0.016	B;B;B	0.16722	0.001;0.016;0.006	T	0.63677	-0.6583	9	.	.	.	-15.3508	17.7098	0.88318	0.0:1.0:0.0:0.0	.	542;738;720	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	Q	720;725;738	ENSP00000360373:E720Q;ENSP00000338919:E725Q;ENSP00000384109:E738Q	.	E	-	1	0	CUL4B	119553715	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.679000	0.84048	2.400000	0.81607	0.583000	0.79449	GAG		0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		44	119	0	0	0	1	0	44	119					G	119669687	C	G	119669687	3	3	321	1	0	0	0	0	1	0	0	0	4058	922	32	4	549	4	CUL4B	23	119669687	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10253121	119669687	35600873	42	32251											
CSAG1	158511	broad.mit.edu	37	chrX	151908875	151908875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ggtctggtgaagatgtccagGaaaccacgagcctccagccc	12	13	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:151908875G>C	ENST00000370287.3	+	4	442	c.114G>C	c.(112-114)agG>agC	p.R38S	CSAG1_ENST00000370291.2_Missense_Mutation_p.R38S|CSAG1_ENST00000452779.2_Missense_Mutation_p.R38S	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	38										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGTCCAGGAAACCACGAG	0.572																																						ENST00000370291.2																			0				central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(112-114)agG>agC		chondrosarcoma associated gene 1							245	220	228					X																	151908875		2203	4300	6503	SO:0001583	missense	158511							g.chrX:151908875G>C	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.114G>C	X.37:g.151908875G>C	ENSP00000359310:p.Arg38Ser					CSAG1_ENST00000452779.2_Missense_Mutation_p.R38S|CSAG1_ENST00000370287.3_Missense_Mutation_p.R38S	p.R38S			Q6PB30	CSAG1_HUMAN			4	394	+	Acute lymphoblastic leukemia(192;6.56e-05)		38					A6NE22	Missense_Mutation	SNP	ENST00000370287.3	37	c.114G>C	CCDS14711.1	.	.	.	.	.	.	.	.	.	.	G	4.115	0.019585	0.08006	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.59224	0.96;0.96;0.28	0.903	-0.0179	0.13966	.	.	.	.	.	T	0.45074	0.1324	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.43680	0.427	T	0.36480	-0.9746	8	0.56958	D	0.05	.	3.3133	0.07024	0.3226:0.0:0.6774:0.0	.	38	Q6PB30	CSAG1_HUMAN	S	38	ENSP00000359310:R38S;ENSP00000396520:R38S;ENSP00000359314:R38S	ENSP00000359310:R38S	R	+	3	2	CSAG1	151659531	0.019000	0.18553	0.056000	0.19401	0.034000	0.12701	-0.033000	0.12246	-0.084000	0.12595	-0.739000	0.03532	AGG		0.572	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479		21	359	0	0	0	1	0	21	359					C	151908875	G	C	151908875	3	2	321	1	0	0	0	0	1	0	0	0	3926	1165	41	4	120	4	CSAG1	23	151908875	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	32239188	151908875	3361685	43	32252											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G													ctgctgctcttccttgccgtINSggggggggccctgggcaaca					rs375310385		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					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)	p.A17fs*39(1)		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)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	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						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	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.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	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)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	94						8	94	---	---	---	---	G	153688565	-	G	153688564	7	5	321	1	0	1	1	0	0	0	0	0	12121	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-HT-A615-01A-11D-A29Q-08	1779689	153688564	1581996	44	32253											
KHDRBS1	10657	broad.mit.edu	37	chr1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-													atggacccctccggtgcccaCccctcggtgcgtcagacgcc							TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:32479677delC	ENST00000327300.7	+	1	248	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(79-81)cafs		KH domain containing, RNA binding, signal transduction associated 1							3	3	3					1																	32479677		1351	2966	4317	SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32479677delC	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"GAP-associated tyrosine phosphoprotein p62 (Sam68)"	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.81delC	1.37:g.32479677delC	ENSP00000313829:p.His27fs					KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs	p.H27fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			1	248	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	27						Frame_Shift_Del	DEL	ENST00000327300.7	37	c.81delC	CCDS350.1																																																																																				0.771	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		2	4						2	4	---	---	---	---	-	32479677	C	-	32479677	7	5	322	1	0	1	0	1	0	0	0	0	8146	506	18	0	83	0	KHDRBS1	1	32479677	Frame_Shift_Del	DEL	C	TCGA-HT-A616-01A-11D-A29Q-08		32479677	216770944	1	32254											
C1orf113	79729	broad.mit.edu	37	chr1	36785522	36785522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaccccagagaagatgGtgactccggaggacaaggct	12	13	0	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:36785522G>A	ENST00000426732.2	+	13	1195	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	SH3D21_ENST00000453908.2_Missense_Mutation_p.V420M|SH3D21_ENST00000505871.1_Missense_Mutation_p.V309M|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Missense_Mutation_p.V66M			A4FU49	SH321_HUMAN	SH3 domain containing 21	304						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGAGAAGATGGTGACTCCGGA	0.562																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1258-1260)Gtg>Atg		SH3 domain containing 21							58	64	62					1																	36785522		2203	4300	6503	SO:0001583	missense	79729							g.chr1:36785522G>A	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.910G>A	1.37:g.36785522G>A	ENSP00000408613:p.Val304Met					SH3D21_ENST00000505871.1_Missense_Mutation_p.V309M|SH3D21_ENST00000312808.4_Missense_Mutation_p.V66M|SH3D21_ENST00000426732.2_Missense_Mutation_p.V304M	p.V420M	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1286	+			304					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1258G>A		.	.	.	.	.	.	.	.	.	.	G	11.12	1.543863	0.27563	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.54071	1.12;1.6;0.59;1.62	2.63	-0.554	0.11811	.	50.916300	0.00166	U	0.000009	T	0.43743	0.1261	L	0.40543	1.245	0.09310	N	1	P;P	0.49090	0.919;0.764	B;B	0.43536	0.423;0.242	T	0.28459	-1.0043	9	.	.	.	.	2.0853	0.03644	0.1797:0.3007:0.3922:0.1274	.	309;304	A4FU49-3;A4FU49	.;SH321_HUMAN	M	420;304;66;309	ENSP00000403476:V420M;ENSP00000408613:V304M;ENSP00000321936:V66M;ENSP00000421294:V309M	.	V	+	1	0	SH3D21	36558109	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.718000	0.04980	-0.119000	0.11830	-0.344000	0.07964	GTG		0.562	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		6	80	0	0	0	1	0	6	80					A	36785522	G	A	36785522	3	1	322	1	0	0	0	0	1	0	0	0	1986	1261	44	2	1312	2	C1orf113	1	36785522	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	4305845	36785522	212465099	2	32255											
KIAA1324	57535	broad.mit.edu	37	chr1	109741239	109741239	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagttctgggagatcaaccaCcatccgcgtcaggtgcagtc	11	13	3	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:109741239C>G	ENST00000369939.3	+	18	2627	c.2444C>G	c.(2443-2445)aCc>aGc	p.T815S	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T728S	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	815					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)		AGATCAACCACCATCCGCGTC	0.532																																						ENST00000369939.3																			0				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						c.(2443-2445)aCc>aGc		KIAA1324							86	65	72					1																	109741239		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109741239C>G	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.2444C>G	1.37:g.109741239C>G	ENSP00000358955:p.Thr815Ser					KIAA1324_ENST00000529753.1_Missense_Mutation_p.T728S|KIAA1324_ENST00000369938.1_3'UTR	p.T815S	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	18	2627	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	815					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2444C>G	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084008	0.55861	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.03951	3.75;3.75;3.75	5.64	5.64	0.86602	Mannose-6-phosphate receptor, binding (1);	0.152885	0.56097	D	0.000024	T	0.01730	0.0055	N	0.16656	0.425	0.37414	D	0.913359	B;P;B;B	0.39181	0.254;0.663;0.254;0.254	B;B;B;B	0.37198	0.06;0.243;0.06;0.06	T	0.63328	-0.6662	10	0.21540	T	0.41	-26.7023	16.6354	0.85058	0.0:1.0:0.0:0.0	.	815;728;815;815	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	S	815;765;728	ENSP00000358955:T815S;ENSP00000393964:T765S;ENSP00000434595:T728S	ENSP00000358955:T815S	T	+	2	0	KIAA1324	109542762	0.927000	0.31430	1.000000	0.80357	0.927000	0.56198	2.087000	0.41653	2.659000	0.90383	0.655000	0.94253	ACC		0.532	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		3	16	0	0	0	1	0	3	16					G	109741239	C	G	109741239	3	3	322	1	0	0	0	0	1	0	0	0	8223	507	18	4	2514	4	KIAA1324	1	109741239	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	72955717	109741239	139509382	3	32256											
FLG	2312	broad.mit.edu	37	chr1	152282001	152282001	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggatctttgtcttccTccagtgctgggccctgtgcg	14	12	2	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152282001T>C	ENST00000368799.1	-	3	5396	c.5361A>G	c.(5359-5361)ggA>ggG	p.G1787G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1787	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)			TTTGTCTTCCTCCAGTGCTGG	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(5359-5361)ggA>ggG		filaggrin							219	227	224					1																	152282001		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282001T>C	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.5361A>G	1.37:g.152282001T>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1787G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5396	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1787			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5361A>G	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	392	0	0	0	1	0	7	392					C	152282001	T	C	152282001	2	2	322	1	0	0	0	0	0	0	0	1	5922	1538	54	3		3	FLG	1	152282001	Silent	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	42540762	152282001	96968620	4	32257											
FLG	2312	broad.mit.edu	37	chr1	152283229	152283229	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctgactgcagatgaaGcttgtctgtgcccaatgcct	10	11	2	3	rs144375884		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152283229G>C	ENST00000368799.1	-	3	4168	c.4133C>G	c.(4132-4134)gCt>gGt	p.A1378G	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	1378	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)			TGCAGATGAAGCTTGTCTGTG	0.532									Ichthyosis																													ENST00000368799.1																			0				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						c.(4132-4134)gCt>gGt		filaggrin		G	GLY/ALA	1,4405	2.1+/-5.4	0,1,2202	407	380	389		4133	0.6	0	1	dbSNP_134	389	0,8594		0,0,4297	no	missense	FLG	NM_002016.1	60	0,1,6499	CC,CG,GG		0.0,0.0227,0.0077	benign	1378/4062	152283229	1,12999	2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283229G>C	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.4133C>G	1.37:g.152283229G>C	ENSP00000357789:p.Ala1378Gly					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1378G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4168	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1378			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4133C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349966	0.24426	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.04275	3.66	3.85	0.583	0.17417	.	.	.	.	.	T	0.01661	0.0053	L	0.60455	1.87	0.09310	N	1	B	0.18968	0.032	B	0.17098	0.017	T	0.44421	-0.9329	9	0.26408	T	0.33	.	6.8921	0.24234	0.0:0.3695:0.4407:0.1898	.	1378	P20930	FILA_HUMAN	G	1378	ENSP00000357789:A1378G	ENSP00000357789:A1378G	A	-	2	0	FLG	150549853	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.653000	0.05360	0.030000	0.15379	-0.323000	0.08544	GCT		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	555	0	0	0	1	0	16	555					C	152283229	G	C	152283229	3	2	322	1	0	0	0	0	1	0	0	0	5922	971	34	4	8056	4	FLG	1	152283229	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1228	152283229	96967392	5	32258											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650368	232650368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaaggctcggagagaTtgcagggtcacagcggaaaa	15	7	1	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:232650368T>C	ENST00000366630.1	-	2	1076	c.718A>G	c.(718-720)Atc>Gtc	p.I240V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I240V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	240					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)				CTCGGAGAGATTGCAGGGTCA	0.473																																						ENST00000366630.1																			0				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						c.(718-720)Atc>Gtc		signal-induced proliferation-associated 1 like 2							78	78	78					1																	232650368		1861	4105	5966	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650368T>C	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.718A>G	1.37:g.232650368T>C	ENSP00000355589:p.Ile240Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I240V	p.I240V			Q9P2F8	SI1L2_HUMAN			2	1076	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	240					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.718A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.265096	0.00259	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.76968	-1.06;-1.06	5.3	1.75	0.24633	.	0.368653	0.29307	N	0.012539	T	0.52008	0.1708	N	0.03115	-0.41	0.19945	N	0.999941	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	10	0.19590	T	0.45	-18.802	10.993	0.47559	0.0:0.2785:0.0:0.7215	.	240	Q9P2F8	SI1L2_HUMAN	V	240	ENSP00000355589:I240V;ENSP00000262861:I240V	ENSP00000262861:I240V	I	-	1	0	SIPA1L2	230716991	0.007000	0.16637	0.086000	0.20670	0.735000	0.41995	0.019000	0.13444	-0.085000	0.12573	-1.162000	0.01777	ATC		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	104	0	0	0	1	0	5	104					C	232650368	T	C	232650368	3	2	322	1	0	0	0	0	1	0	0	0	14330	1493	52	3	4534	3	SIPA1L2	1	232650368	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	80367139	232650368	16600253	6	32259											
TTN	7273	broad.mit.edu	37	chr2	179453926	179453926	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttagttgccgtaactacAtatttacccccatcacttcg	6	12	1	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179453926A>G	ENST00000591111.1	-	254	57827	c.57603T>C	c.(57601-57603)taT>taC	p.Y19201Y	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.Y20842Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y18274Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11969Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.Y11902Y|TTN_ENST00000460472.2_Silent_p.Y11777Y			Q8WZ42	TITIN_HUMAN	titin	19201	Ig-like 108.				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)			CCGTAACTACATATTTACCCC	0.413																																						ENST00000589042.1																			0				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						c.(62524-62526)taT>taC		titin							115	115	115					2																	179453926		1900	4126	6026	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453926A>G	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.57603T>C	2.37:g.179453926A>G						TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.Y11777Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11969Y|TTN_ENST00000342992.6_Silent_p.Y18274Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.Y19201Y|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.Y11902Y|TTN-AS1_ENST00000590932.1_RNA	p.Y20842Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	62750	-			19201			Fibronectin type-III 51.		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	ENST00000591111.1	37	c.62526T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	64	0	0	0	1	0	51	64					G	179453926	A	G	179453926	2	3	322	1	0	0	0	0	0	0	0	1	16732	224	8	3		3	TTN	2	179453926	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		179453926	63745447	7	32260											
TTN	7273	broad.mit.edu	37	chr2	179579894	179579894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctttataccaagaaacGtgaaatgggggagtgccctg	12	7	1	2	rs370266918	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179579894G>A	ENST00000591111.1	-	88	25292	c.25068C>T	c.(25066-25068)caC>caT	p.H8356H	TTN_ENST00000589042.1_Silent_p.H8673H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.H7429H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12530	Ig-like 66.				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)			ACCAAGAAACGTGAAATGGGG	0.443													g|||	4	0.000798722	0.003	0.0	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(26017-26019)caC>caT		titin		A	,,,	1,3749		0,1,1874	231	214	219		,22287,,	-1.2	1	2		219	0,8214		0,0,4107	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5981	AA,AG,GG		0.0,0.0267,0.0084	,,,	,7429/33424,,	179579894	1,11963	1875	4107	5982	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579894G>A	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.25068C>T	2.37:g.179579894G>A						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.H7429H|TTN_ENST00000591111.1_Silent_p.H8356H|TTN_ENST00000359218.5_Intron	p.H8673H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26243	-			8356			Ig-like 69.		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	ENST00000591111.1	37	c.26019C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	98	0	0	0	1	0	62	98					A	179579894	G	A	179579894	2	1	322	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179579894	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	125968	179579894	63619479	8	32261											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	44	0	0	0	1	0	16	44					T	209113112	C	T	209113112	3	4	322	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	29533218	209113112	34086261	9	32262											
CHCHD4	131474	broad.mit.edu	37	chr3	14157999	14157999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtttcatgatcttctttGgttacaaatatgattcgatc	8	6	3	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:14157999G>A	ENST00000396914.3	-	2	229	c.48C>T	c.(46-48)acC>acT	p.T16T	CHCHD4_ENST00000295767.5_Silent_p.T29T	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	16					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTTCTTTGGTTACAAATA	0.468																																						ENST00000295767.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(85-87)acC>acT		coiled-coil-helix-coiled-coil-helix domain containing 4							210	188	195					3																	14157999		2203	4300	6503	SO:0001819	synonymous_variant	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14157999G>A	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.48C>T	3.37:g.14157999G>A						CHCHD4_ENST00000396914.3_Silent_p.T16T	p.T29T	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN			3	411	-			16					A8K3Z9|Q96AI2|Q96MY6	Silent	SNP	ENST00000396914.3	37	c.87C>T	CCDS43054.1																																																																																				0.468	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		4	159	0	0	0	1	0	4	159					A	14157999	G	A	14157999	2	1	322	1	0	0	0	0	0	0	0	1	3318	1335	47	2		2	CHCHD4	3	14157999	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		14157999	183864431	10	32263											
CCDC54	84692	broad.mit.edu	37	chr3	107096617	107096617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatgatgatagttatgaCggaaaaatgaatcttccagt	9	5	1	5	rs144553244	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21297	0.0		0.0	False		,,,				2504	0.0					ENST00000261058.1																			1	Substitution - coding silent(1)	p.D61D(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(181-183)gaC>gaT		coiled-coil domain containing 54							132	127	129					3																	107096617		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096617C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.183C>T	3.37:g.107096617C>T							p.D61D	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	430	+			61					Q96A43	Silent	SNP	ENST00000261058.1	37	c.183C>T	CCDS2949.1																																																																																				0.363	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		29	81	0	0	0	1	0	29	81					T	107096617	C	T	107096617	2	4	322	1	0	0	0	0	0	0	0	1	2824	535	19	1		1	CCDC54	3	107096617	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	92938618	107096617	90925813	11	32264											
FAT2	2196	broad.mit.edu	37	chr5	150917494	150917494	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atacatcttcatgaaccttgCcagtatagagaagctagaga	8	8	2	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:150917494C>G	ENST00000261800.5	-	11	9065	c.9053G>C	c.(9052-9054)gGc>gCc	p.G3018A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3018	Cadherin 27. {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)			ATGAACCTTGCCAGTATAGAG	0.458																																						ENST00000261800.5																			0				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						c.(9052-9054)gGc>gCc		FAT atypical cadherin 2							90	83	86					5																	150917494		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150917494C>G	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.9053G>C	5.37:g.150917494C>G	ENSP00000261800:p.Gly3018Ala						p.G3018A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	9065	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3018			Cadherin 27.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9053G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.447717	0.01080	.	.	ENSG00000086570	ENST00000261800	T	0.46819	0.86	4.69	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.110334	0.39909	N	0.001225	T	0.20820	0.0501	N	0.02103	-0.685	0.37720	D	0.924887	B	0.33448	0.412	B	0.39503	0.301	T	0.26467	-1.0102	10	0.08179	T	0.78	.	7.9842	0.30202	0.0:0.7529:0.1622:0.0849	.	3018	Q9NYQ8	FAT2_HUMAN	A	3018	ENSP00000261800:G3018A	ENSP00000261800:G3018A	G	-	2	0	FAT2	150897687	0.016000	0.18221	0.991000	0.47740	0.174000	0.22865	1.082000	0.30803	2.168000	0.68352	0.563000	0.77884	GGC		0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	52	0	0	0	1	0	3	52					G	150917494	C	G	150917494	3	3	322	1	0	0	0	0	1	0	0	0	5690	739	26	4	4048	4	FAT2	5	150917494	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		150917494	29997766	12	32265											
C5orf25	375484	broad.mit.edu	37	chr5	175763804	175763804	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccacagctgtgagacAcccacccgcctgcctctgtc	7	19	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:175763804A>C	ENST00000443967.1	+	10	2603	c.2196A>C	c.(2194-2196)acA>acC	p.T732T	SIMC1_ENST00000430704.2_Silent_p.T317T|SIMC1_ENST00000332772.4_Silent_p.T193T|SIMC1_ENST00000341199.6_Silent_p.T317T			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	732							SUMO polymer binding (GO:0032184)										GCTGTGAGACACCCACCCGCC	0.478																																						ENST00000443967.1																			0											c.(2194-2196)acA>acC		SUMO-interacting motifs containing 1							91	95	93					5																	175763804		2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175763804A>C	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.2196A>C	5.37:g.175763804A>C						SIMC1_ENST00000332772.4_Silent_p.T193T|SIMC1_ENST00000430704.2_Silent_p.T317T|SIMC1_ENST00000341199.6_Silent_p.T317T	p.T732T							10	2603	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.2196A>C																																																																																					0.478	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		8	59	0	0	0	1	0	8	59					C	175763804	A	C	175763804	2	2	322	1	0	0	0	0	0	0	0	1	2288	146	6	5		5	C5orf25	5	175763804	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	24846310	175763804	5151456	13	32266											
CAPN11	11131	broad.mit.edu	37	chr6	44143857	44143857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaagatgctggtgagagGgcacgcttactctgtgactg	14	8	1	4			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:44143857G>A	ENST00000398776.1	+	8	922	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G295E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	295	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			CTGGTGAGAGGGCACGCTTAC	0.557																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(883-885)gGg>gAg		calpain 11							78	79	78					6																	44143857		2148	4253	6401	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44143857G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.884G>A	6.37:g.44143857G>A	ENSP00000381758:p.Gly295Glu					CAPN11_ENST00000398776.1_Missense_Mutation_p.G295E	p.G295E			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	922	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		295			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.884G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484468	0.84854	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.97976	-4.64;-4.64	3.56	3.56	0.40772	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.47093	D	0.000252	D	0.99146	0.9705	H	0.97131	3.945	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	15.3933	0.74767	0.0:0.0:1.0:0.0	.	295	Q9UMQ6	CAN11_HUMAN	E	295	ENSP00000381758:G295E;ENSP00000441078:G295E	ENSP00000381758:G295E	G	+	2	0	CAPN11	44251835	1.000000	0.71417	0.748000	0.31131	0.268000	0.26511	9.556000	0.98127	2.317000	0.78254	0.462000	0.41574	GGG		0.557	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			8	23	0	0	0	1	0	8	23					A	44143857	G	A	44143857	3	1	322	1	0	0	0	0	1	0	0	0	2624	1232	43	2	914	2	CAPN11	6	44143857	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		44143857	126971210	14	32267											
NOTCH1	4851	broad.mit.edu	37	chr9	139402727	139402727	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggacacgctgggcacgtcGcagtaaaggccggtccagcc	14	14	0	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr9:139402727G>C	ENST00000277541.6	-	20	3357	c.3282C>G	c.(3280-3282)tgC>tgG	p.C1094W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1094	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)		TGGGCACGTCGCAGTAAAGGC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(3280-3282)tgC>tgG		notch 1							53	68	63					9																	139402727		2134	4235	6369	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402727G>C	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.3282C>G	9.37:g.139402727G>C	ENSP00000277541:p.Cys1094Trp	HNSCC(8;0.001)					p.C1094W	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3357	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1094			EGF-like 28.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3282C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893077	0.33442	.	.	ENSG00000148400	ENST00000277541	D	0.99914	-7.98	5.23	-5.88	0.02290	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96480	0.9355	10	0.87932	D	0	.	10.3607	0.43991	0.4787:0.0:0.4363:0.085	.	1094	P46531	NOTC1_HUMAN	W	1094	ENSP00000277541:C1094W	ENSP00000277541:C1094W	C	-	3	2	NOTCH1	138522548	0.044000	0.20184	0.546000	0.28166	0.081000	0.17604	-0.592000	0.05747	-1.178000	0.02741	-0.940000	0.02684	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	142	0	0	0	1	0	4	142					C	139402727	G	C	139402727	3	2	322	1	0	0	0	0	1	0	0	0	10547	1079	38	4	4445	4	NOTCH1	9	139402727	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		139402727	1810704	15	32268											
CCAR1	55749	broad.mit.edu	37	chr10	70513778	70513779	+	Frame_Shift_Ins	INS	-	-	A													cagagaagtagagtccttagINSaaaaaaatatggccattctt							TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:70513778_70513779insA	ENST00000265872.6	+	11	1407_1408	c.1288_1289insA	c.(1288-1290)gaafs	p.E430fs	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.E415fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.E415fs	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	430					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						AGAGTCCTTAGAAAAAAATATG	0.381																																						ENST00000265872.6																			0				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						c.(1288-1290)aaafs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70513778_70513779insA	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.1295dupA	10.37:g.70513785_70513785dupA	ENSP00000265872:p.Glu430fs					CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.K415fs|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.K415fs	p.K430fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			11	1407_1408	+			430					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Ins	INS	ENST00000265872.6	37	c.1288_1289insA	CCDS7282.1																																																																																				0.381	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		32	68						32	68	---	---	---	---	A	70513779	-	A	70513778	7	5	322	1	0	1	1	0	0	0	0	0	2730	943	33	0	1326	0	CCAR1	10	70513778	Frame_Shift_Ins	INS	-	TCGA-HT-A616-01A-11D-A29Q-08		70513778	65020969	16	32269											
TMX2	51075	broad.mit.edu	37	chr11	57480129	57480129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaattgctctcgtgtattcGgtgccgcgactttcacgatg	10	11	2	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:57480129G>A	ENST00000278422.4	+	1	51	c.39G>A	c.(37-39)tcG>tcA	p.S13S	TMX2_ENST00000378312.4_Silent_p.S13S|MED19_ENST00000431606.2_5'Flank|MED19_ENST00000337672.2_5'Flank|TMX2-CTNND1_ENST00000528395.1_Silent_p.S13S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	13					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCGTGTATTCGGTGCCGCGAC	0.627																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(37-39)tcG>tcA		thioredoxin-related transmembrane protein 2							90	72	78					11																	57480129		2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57480129G>A	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.39G>A	11.37:g.57480129G>A						TMX2-CTNND1_ENST00000528395.1_Silent_p.S13S|TMX2_ENST00000378312.4_Silent_p.S13S	p.S13S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			1	51	+			13					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.39G>A	CCDS7967.1																																																																																				0.627	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		7	38	0	0	0	1	0	7	38					A	57480129	G	A	57480129	2	1	322	1	0	0	0	0	0	0	0	1	16264	1103	39	1		1	TMX2	11	57480129	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		57480129	77526387	17	32270											
OR5A1	219982	broad.mit.edu	37	chr11	59211152	59211152	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctccatatttaggcttcacTtttgcggacccaacatcatc	6	13	2	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:59211152T>A	ENST00000302030.2	+	1	536	c.511T>A	c.(511-513)Ttt>Att	p.F171I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	171						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TAGGCTTCACTTTTGCGGACC	0.532																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(511-513)Ttt>Att		olfactory receptor, family 5, subfamily A, member 1							267	260	263					11																	59211152		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211152T>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.511T>A	11.37:g.59211152T>A	ENSP00000303096:p.Phe171Ile						p.F171I	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	536	+			171					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.511T>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695810	0.48202	.	.	ENSG00000172320	ENST00000302030	T	0.00179	8.61	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00754	0.0025	M	0.90198	3.095	0.34707	D	0.727381	D	0.76494	0.999	D	0.74023	0.982	T	0.57225	-0.7848	10	0.87932	D	0	-39.188	15.3131	0.74053	0.0:0.0:0.0:1.0	.	171	Q8NGJ0	OR5A1_HUMAN	I	171	ENSP00000303096:F171I	ENSP00000303096:F171I	F	+	1	0	OR5A1	58967728	0.978000	0.34361	0.863000	0.33907	0.061000	0.15899	2.476000	0.45171	2.288000	0.76882	0.528000	0.53228	TTT		0.532	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	374	0	0	0	1	0	8	374					A	59211152	T	A	59211152	3	1	322	1	0	0	0	0	1	0	0	0	11139	1609	56	5	513	5	OR5A1	11	59211152	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	1731023	59211152	75795364	18	32271											
AVPR1A	552	broad.mit.edu	37	chr12	63543861	63543861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccttgctctggcgcgaCgccgtcttcccgcggacgtt	12	17	2	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr12:63543861C>T	ENST00000299178.2	-	1	861	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	252					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCTGGCGCGACGCCGTCTTCC	0.622																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(754-756)gcG>gcA		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						96	96	96					12																	63543861		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543861C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.756G>A	12.37:g.63543861C>T							p.A252A	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	861	-			252						Silent	SNP	ENST00000299178.2	37	c.756G>A	CCDS8965.1																																																																																				0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			7	190	0	0	0	1	0	7	190					T	63543861	C	T	63543861	2	4	322	1	0	0	0	0	0	0	0	1	1231	523	19	1		1	AVPR1A	12	63543861	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		63543861	70308034	19	32272											
ATG2B	55102	broad.mit.edu	37	chr14	96777876	96777877	+	Splice_Site	DEL	CA	CA	-													tttcatttattttaataactCacttgctctccatcagaatc							TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:96777876_96777877delCA	ENST00000359933.4	-	27	4884		c.e27+1		ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						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)		TTTAATAACTCACTTGCTCTCC	0.277																																						ENST00000359933.4																			0				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						c.e27+1		autophagy related 2B																																				SO:0001630	splice_region_variant	55102							g.chr14:96777876_96777877delCA	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.3990+1TG>-	14.37:g.96777876_96777877delCA								NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	27	4884	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)						Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	DEL	ENST00000359933.4	37		CCDS9944.2																																																																																				0.277	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	14	26						14	26	---	---	---	---	-	96777877	CA	-	96777876	8	5	322	1	0	1	0	1	0	0	1	0	1094	841	29	0		0	ATG2B	14	96777876	Splice_Site	DEL	CA	TCGA-HT-A616-01A-11D-A29Q-08		96777876	10571664	20	32273											
THBS1	7057	broad.mit.edu	37	chr15	39884880	39884880	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatgtgcccaatgccaacCaggctgaccatgacaaagat	8	13	0	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:39884880C>T	ENST00000260356.5	+	17	2809	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	882					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAATGCCAACCAGGCTGACCA	0.502																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2644-2646)Cag>Tag		thrombospondin 1	Becaplermin(DB00102)						135	95	108					15																	39884880		2200	4297	6497	SO:0001587	stop_gained	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884880C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2644C>T	15.37:g.39884880C>T	ENSP00000260356:p.Gln882*						p.Q882*	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2809	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	882					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Nonsense_Mutation	SNP	ENST00000260356.5	37	c.2644C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	41	8.886990	0.98990	.	.	ENSG00000137801	ENST00000260356	.	.	.	5.3	5.3	0.74995	.	0.000000	0.34178	N	0.004196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.6107	14.5347	0.67953	0.0:0.8535:0.1465:0.0	.	.	.	.	X	882	.	ENSP00000260356:Q882X	Q	+	1	0	THBS1	37672172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.474000	0.83562	0.655000	0.94253	CAG		0.502	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		18	36	0	0	0	1	0	18	36					T	39884880	C	T	39884880	4	4	322	1	0	0	0	0	0	1	0	0	15850	595	21	2	2706	2	THBS1	15	39884880	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		39884880	62646512	21	32274											
SPINT1	6692	broad.mit.edu	37	chr15	41146276	41146276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccctccatggaaaggcGccatccaggtgggctttact	12	13	0	0	rs138167951		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:41146276G>A	ENST00000344051.4	+	6	1214	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SPINT1_ENST00000431806.1_Missense_Mutation_p.R311H|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327					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)		ATGGAAAGGCGCCATCCAGGT	0.592																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(979-981)cGc>cAc		serine peptidase inhibitor, Kunitz type 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	108	108		932,932,980	1	0.7	15	dbSNP_134	108	0,8600		0,0,4300	no	missense,missense,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	311/514,311/514,327/530	41146276	1,13005	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146276G>A		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.980G>A	15.37:g.41146276G>A	ENSP00000342098:p.Arg327His					SPINT1_ENST00000562057.1_Missense_Mutation_p.R311H|SPINT1_ENST00000431806.1_Missense_Mutation_p.R311H	p.R327H			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	6	1214	+		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)	327					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.980G>A	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	3.591	-0.083572	0.07141	2.27E-4	0.0	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95622	-3.7;-3.76	4.59	0.986	0.19784	.	1.291370	0.04602	N	0.398660	D	0.88559	0.6469	N	0.08118	0	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78254	-0.2275	10	0.28530	T	0.3	-8.3304	7.4557	0.27266	0.7285:0.0:0.2715:0.0	.	311;327	O43278-2;O43278	.;SPIT1_HUMAN	H	327;294;311	ENSP00000342098:R327H;ENSP00000409935:R311H	ENSP00000342098:R327H	R	+	2	0	SPINT1	38933568	0.968000	0.33430	0.663000	0.29738	0.821000	0.46438	1.898000	0.39809	0.010000	0.14839	-1.671000	0.00744	CGC		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		48	114	0	0	0	1	0	48	114					A	41146276	G	A	41146276	3	1	322	1	0	0	0	0	1	0	0	0	15067	1087	38	1	998	1	SPINT1	15	41146276	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1261396	41146276	61385116	22	32275											
VPS13C	54832	broad.mit.edu	37	chr15	62300864	62300864	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctaacttaccatcgtcgacCattggtatgaagtggtaaat	8	8	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:62300864C>G	ENST00000261517.5	-	14	1181	c.1108G>C	c.(1108-1110)Ggt>Cgt	p.G370R	VPS13C_ENST00000395898.3_Missense_Mutation_p.G327R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G327R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G370R	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						CATCGTCGACCATTGGTATGA	0.338																																						ENST00000261517.5																			0				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						c.(1108-1110)Ggt>Cgt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							104	79	88					15																	62300864		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62300864C>G	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.1108G>C	15.37:g.62300864C>G	ENSP00000261517:p.Gly370Arg					VPS13C_ENST00000395896.4_Missense_Mutation_p.G370R|VPS13C_ENST00000395898.3_Missense_Mutation_p.G327R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G327R	p.G370R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			14	1181	-			370						Missense_Mutation	SNP	ENST00000261517.5	37	c.1108G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122093	0.37436	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.40756	1.02;1.02;1.02	4.65	-6.17	0.02091	.	0.778563	0.11139	N	0.595527	T	0.21841	0.0526	N	0.22421	0.69	0.20975	N	0.999813	B;B;B;B	0.30634	0.137;0.137;0.288;0.19	B;B;B;B	0.31101	0.124;0.124;0.124;0.058	T	0.18209	-1.0344	10	0.56958	D	0.05	.	5.1695	0.15103	0.2503:0.3381:0.0:0.4115	.	327;370;327;370	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	327;370;370;370	ENSP00000249837:G327R;ENSP00000261517:G370R;ENSP00000379233:G370R	ENSP00000249837:G327R	G	-	1	0	VPS13C	60088156	0.032000	0.19561	0.566000	0.28421	0.808000	0.45660	-0.786000	0.04623	-1.137000	0.02888	-0.274000	0.10170	GGT		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	8	0	0	0	1	0	5	8					G	62300864	C	G	62300864	3	3	322	1	0	0	0	0	1	0	0	0	17188	594	21	4	10469	4	VPS13C	15	62300864	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	21154588	62300864	40230528	23	32276											
CNOT1	23019	broad.mit.edu	37	chr16	58581553	58581553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagaacgatctgagaAattggctgcagctttatcag	10	8	2	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:58581553A>C	ENST00000317147.5	-	26	3888	c.3556T>G	c.(3556-3558)Ttc>Gtc	p.F1186V	CNOT1_ENST00000569240.1_Missense_Mutation_p.F1181V|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1186V|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1186	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				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)		CGATCTGAGAAATTGGCTGCA	0.358																																						ENST00000317147.5																			0				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						c.(3556-3558)Ttc>Gtc		CCR4-NOT transcription complex, subunit 1							70	66	68					16																	58581553		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581553A>C	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.3556T>G	16.37:g.58581553A>C	ENSP00000320949:p.Phe1186Val					CNOT1_ENST00000569240.1_Missense_Mutation_p.F1181V|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1186V	p.F1186V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	26	3888	-			1186					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3556T>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822815	0.90873	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.16196	2.36;2.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.42487	1.325	0.80722	D	1	D;B;P	0.57899	0.981;0.007;0.934	D;B;P	0.69142	0.962;0.018;0.705	T	0.02625	-1.1132	10	0.17832	T	0.49	.	14.918	0.70812	1.0:0.0:0.0:0.0	.	1186;1186;1181	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	1186;1181;1186	ENSP00000320949:F1186V;ENSP00000413113:F1186V	ENSP00000320949:F1186V	F	-	1	0	CNOT1	57139054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.263000	0.75096	0.528000	0.53228	TTC		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		11	28	0	0	0	1	0	11	28					C	58581553	A	C	58581553	3	2	322	1	0	0	0	0	1	0	0	0	3617	14	1	5	3892	5	CNOT1	16	58581553	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		58581553	31773200	24	32277											
C16orf70	80262	broad.mit.edu	37	chr16	67168278	67168278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccatgatgcctctgaGctgtttcctgggcaatgtct	11	12	2	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:67168278G>A	ENST00000219139.3	+	8	757	c.569G>A	c.(568-570)aGc>aAc	p.S190N	C16orf70_ENST00000569600.1_Missense_Mutation_p.S190N|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	190										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGCCTCTGAGCTGTTTCCTG	0.532																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(568-570)aGc>aAc		chromosome 16 open reading frame 70							302	291	295					16																	67168278		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67168278G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.569G>A	16.37:g.67168278G>A	ENSP00000219139:p.Ser190Asn					C16orf70_ENST00000569600.1_Missense_Mutation_p.S190N|C16orf70_ENST00000569683.1_3'UTR	p.S190N	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	8	757	+		Ovarian(137;0.192)	190					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.569G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837388	0.50951	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.143817	0.64402	D	0.000004	T	0.66307	0.2776	L	0.55213	1.73	0.54753	D	0.999989	B	0.14805	0.011	B	0.20184	0.028	T	0.60576	-0.7236	9	0.51188	T	0.08	-0.0354	19.0219	0.92919	0.0:0.0:1.0:0.0	.	190	Q9BSU1	CP070_HUMAN	N	190	.	ENSP00000219139:S190N	S	+	2	0	C16orf70	65725779	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.623000	0.67757	2.835000	0.97688	0.650000	0.86243	AGC		0.532	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		9	470	0	0	0	1	0	9	470					A	67168278	G	A	67168278	3	1	322	1	0	0	0	0	1	0	0	0	1829	971	34	2	599	2	C16orf70	16	67168278	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	8586725	67168278	23186475	25	32278											
PRDM7	11105	broad.mit.edu	37	chr16	90124772	90124772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggatcagaatattgccGctcctgattctgatcccctg	10	12	2	3	rs144617453	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:90124772G>A	ENST00000449207.2	-	10	1423	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	PRDM7_ENST00000407825.1_Missense_Mutation_p.A168V|PRDM7_ENST00000325921.6_Missense_Mutation_p.A168V	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	468					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAATATTGCCGCTCCTGATTC	0.468													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19810	0.0		0.0	False		,,,				2504	0.0041					ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(502-504)gCg>gTg		PR domain containing 7		G	,VAL/ALA	10,4386	16.8+/-37.8	0,10,2188	103	101	102		1404,503	2.4	0	16	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,missense	PRDM7	NM_001098173.1,NM_052996.2	,64	0,13,6485	AA,AG,GG		0.0349,0.2275,0.1	,	468/493,168/172	90124772	13,12983	2198	4300	6498	SO:0001819	synonymous_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90124772G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1404C>T	16.37:g.90124772G>A						PRDM7_ENST00000325921.6_Missense_Mutation_p.A168V|PRDM7_ENST00000449207.2_Silent_p.S468S	p.A168V			Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1140	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	0					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.503C>T	CCDS45557.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.69	2.610611	0.46527	0.002275	3.49E-4	ENSG00000126856	ENST00000325921;ENST00000407825	T;T	0.51817	0.69;0.69	2.4	2.4	0.29515	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.09310	N	1	P	0.50528	0.936	B	0.40038	0.317	T	0.10154	-1.0642	7	.	.	.	-0.0876	5.6357	0.17536	0.1708:0.0:0.8292:0.0	.	168	Q9NQW5-2	.	V	168	ENSP00000315512:A168V;ENSP00000385121:A168V	.	A	-	2	0	PRDM7	88652273	0.002000	0.14202	0.022000	0.16811	0.061000	0.15899	0.750000	0.26334	1.312000	0.45043	0.313000	0.20887	GCG		0.468	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			4	115	0	0	0	1	0	4	115					A	90124772	G	A	90124772	2	1	322	1	0	0	0	0	0	0	0	1	12461	1087	38	1		1	PRDM7	16	90124772	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	22956494	90124772	229981	26	32279											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939276	27939276	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgtctgcctcctggcTtcccagttaagattggtgag	11	13	1	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:27939276T>G	ENST00000394859.3	+	11	1397	c.1243T>G	c.(1243-1245)Ttc>Gtc	p.F415V	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	415						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCTCCTGGCTTCCCAGTTAA	0.622																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1243-1245)Ttc>Gtc		ankyrin repeat domain 13B							86	84	85					17																	27939276		2203	4300	6503	SO:0001583	missense	124930							g.chr17:27939276T>G	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"Ankyrin repeat domain containing"	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1243T>G	17.37:g.27939276T>G	ENSP00000378328:p.Phe415Val					RP11-68I3.2_ENST00000581474.1_RNA	p.F415V	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			11	1397	+			415					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.1243T>G	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506837	0.85282	.	.	ENSG00000198720	ENST00000394859	T	0.69306	-0.39	5.83	5.83	0.93111	.	0.044919	0.85682	D	0.000000	D	0.86184	0.5872	M	0.93720	3.45	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.89794	0.3970	10	0.87932	D	0	-23.9562	15.8671	0.79074	0.0:0.0:0.0:1.0	.	415	Q86YJ7	AN13B_HUMAN	V	415	ENSP00000378328:F415V	ENSP00000378328:F415V	F	+	1	0	ANKRD13B	24963402	1.000000	0.71417	0.992000	0.48379	0.620000	0.37586	7.962000	0.87912	2.220000	0.72140	0.533000	0.62120	TTC		0.622	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		32	74	0	0	0	1	0	32	74					G	27939276	T	G	27939276	3	3	322	1	0	0	0	0	1	0	0	0	642	1609	56	5	1285	5	ANKRD13B	17	27939276	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		27939276	53255934	27	32280											
ABCA9	10350	broad.mit.edu	37	chr17	66982397	66982397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcaggttgggccacagCgcattctcctgagggcagta	13	11	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:66982397C>T	ENST00000340001.4	-	32	4327	c.4116G>A	c.(4114-4116)gcG>gcA	p.A1372A	ABCA9_ENST00000453985.2_Silent_p.A1334A|ABCA9_ENST00000370732.2_Silent_p.A1372A|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)					TGGGCCACAGCGCATTCTCCT	0.547																																						ENST00000340001.4																			0				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						c.(4114-4116)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 9							129	105	113					17																	66982397		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982397C>T	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.4116G>A	17.37:g.66982397C>T						ABCA9_ENST00000453985.2_Silent_p.A1334A|ABCA9_ENST00000370732.2_Silent_p.A1372A	p.A1372A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4327	-	Breast(10;1.47e-12)		1372			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4116G>A	CCDS11681.1																																																																																				0.547	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		8	116	0	0	0	1	0	8	116					T	66982397	C	T	66982397	2	4	322	1	0	0	0	0	0	0	0	1	39	755	27	1		1	ABCA9	17	66982397	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	39043121	66982397	14212813	28	32281											
DSG2	1829	broad.mit.edu	37	chr18	29126141	29126141	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcctgacccaatggcttctaGaaatgtgatagcaacagaaa	8	9	1	4			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:29126141G>C	ENST00000261590.8	+	15	3001	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	931					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)			ATGGCTTCTAGAAATGTGATA	0.473																																						ENST00000261590.8																			0				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						c.(2791-2793)aGa>aCa		desmoglein 2							92	91	91					18																	29126141		1957	4157	6114	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126141G>C	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.2792G>C	18.37:g.29126141G>C	ENSP00000261590:p.Arg931Thr					RP11-75N4.2_ENST00000583706.1_RNA	p.R931T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3001	+			931					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2792G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003645	0.07866	.	.	ENSG00000046604	ENST00000261590	T	0.75367	-0.93	4.9	3.11	0.35812	.	0.967056	0.08537	N	0.931086	T	0.55162	0.1903	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.46965	-0.9153	10	0.52906	T	0.07	.	7.8193	0.29278	0.1524:0.1341:0.7134:0.0	.	931	Q14126	DSG2_HUMAN	T	931	ENSP00000261590:R931T	ENSP00000261590:R931T	R	+	2	0	DSG2	27380139	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.874000	0.28065	0.776000	0.33473	-0.140000	0.14226	AGA		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		65	76	0	0	0	1	0	65	76					C	29126141	G	C	29126141	3	2	322	1	0	0	0	0	1	0	0	0	4777	942	33	4	2850	4	DSG2	18	29126141	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		29126141	48951107	29	32282											
RTTN	25914	broad.mit.edu	37	chr18	67695981	67695981	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacattcctcattttgataAagacagtttcttaggagctg	7	7	2	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:67695981A>C	ENST00000255674.6	-	43	6088	c.5802T>G	c.(5800-5802)ctT>ctG	p.L1934L	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1934				L -> P (in Ref. 4; AAH46222). {ECO:0000305}.	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)				CATTTTGATAAAGACAGTTTC	0.308																																						ENST00000255674.6																			0				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						c.(5800-5802)ctT>ctG		rotatin							80	74	76					18																	67695981		1829	4083	5912	SO:0001819	synonymous_variant	25914						binding	g.chr18:67695981A>C	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.5802T>G	18.37:g.67695981A>C						RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	p.L1934L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			43	6088	-		Esophageal squamous(42;0.129)	1934	L -> P (in Ref. 4; AAH46222).				Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5802T>G	CCDS42443.1																																																																																				0.308	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		5	16	0	0	0	1	0	5	16					C	67695981	A	C	67695981	2	2	322	1	0	0	0	0	0	0	0	1	13737	1	1	5		5	RTTN	18	67695981	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	38569840	67695981	10381267	30	32283											
PRODH2	58510	broad.mit.edu	37	chr19	36293163	36293163	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagtcccatccagaggaatGcccagctcccacatgctaca	7	16	0	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:36293163G>T	ENST00000301175.3	-	10	1373	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	452					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGAGGAATGCCCAGCTCCC	0.542																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1354-1356)ggC>ggA		proline dehydrogenase (oxidase) 2							210	159	176					19																	36293163		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36293163G>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1356C>A	19.37:g.36293163G>T							p.G452G	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1373	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		452						Silent	SNP	ENST00000301175.3	37	c.1356C>A	CCDS12478.1																																																																																				0.542	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		10	136	1	0	1.5842e-08	1	1.61467e-08	10	136					T	36293163	G	T	36293163	2	4	322	1	0	0	0	0	0	0	0	1	12549	1306	46	4		4	PRODH2	19	36293163	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		36293163	22835820	31	32284											
KCNA7	3743	broad.mit.edu	37	chr19	49573516	49573516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaattggagacaatgAcgggcactggcagggaaata	14	6	0	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:49573516A>G	ENST00000221444.1	-	2	1530	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	392					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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGAGACAATGACGGGCACTGG	0.567																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1174-1176)gTc>gCc		potassium voltage-gated channel, shaker-related subfamily, member 7							72	65	68					19																	49573516		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573516A>G	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1175T>C	19.37:g.49573516A>G	ENSP00000221444:p.Val392Ala						p.V392A	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1530	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	392					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.1175T>C	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360125	0.82353	.	.	ENSG00000104848	ENST00000221444	D	0.99089	-5.41	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	M	0.90483	3.12	0.58432	D	0.999995	D	0.54397	0.966	D	0.67548	0.952	D	0.98928	1.0786	10	0.87932	D	0	.	13.3495	0.60593	1.0:0.0:0.0:0.0	.	392	Q96RP8	KCNA7_HUMAN	A	392	ENSP00000221444:V392A	ENSP00000221444:V392A	V	-	2	0	KCNA7	54265328	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	9.332000	0.96446	1.880000	0.54463	0.402000	0.26972	GTC		0.567	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		26	43	0	0	0	1	0	26	43					G	49573516	A	G	49573516	3	3	322	1	0	0	0	0	1	0	0	0	8008	275	10	3	199	3	KCNA7	19	49573516	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	13280353	49573516	9555467	32	32285											
PRR12	57479	broad.mit.edu	37	chr19	50123629	50123629	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcgggcagtacctgggcgtCtgctcaaaaccagggcgatg	15	11	2	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:50123629C>T	ENST00000418929.2	+	10	5530	c.5518C>T	c.(5518-5520)Ctg>Ttg	p.L1840L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1019							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)		ACCTGGGCGTCTGCTCAAAAC	0.567																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5518-5520)Ctg>Ttg		proline rich 12							46	50	49					19																	50123629		2106	4226	6332	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50123629C>T	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.5518C>T	19.37:g.50123629C>T							p.L1840L	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5530	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1019					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.5518C>T	CCDS46143.1																																																																																				0.567	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		6	15	0	0	0	1	0	6	15					T	50123629	C	T	50123629	2	4	322	1	0	0	0	0	0	0	0	1	12584	912	32	2		2	PRR12	19	50123629	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	550113	50123629	9005354	33	32286											
TXN2	25828	broad.mit.edu	37	chr22	36872905	36872905	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagggtccacaccaccTcaaaaggcgagaaaggaagc	11	12	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr22:36872905T>A	ENST00000216185.2	-	3	730		c.e3-2		TXN2_ENST00000416967.1_Splice_Site|TXN2_ENST00000403313.1_Splice_Site|TXN2_ENST00000487725.1_Splice_Site			Q99757	THIOM_HUMAN	thioredoxin 2						cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						CCACACCACCTCAAAAGGCGA	0.537																																						ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.e3-2		thioredoxin 2							131	109	117					22																	36872905		2203	4300	6503	SO:0001630	splice_region_variant	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36872905T>A	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.264-2A>T	22.37:g.36872905T>A						TXN2_ENST00000416967.1_Splice_Site|TXN2_ENST00000487725.1_Splice_Site|TXN2_ENST00000403313.1_Splice_Site				Q99757	THIOM_HUMAN			3	730	-								Q5JZA0|Q6FH60|Q9UH29	Splice_Site	SNP	ENST00000216185.2	37		CCDS13928.1	.	.	.	.	.	.	.	.	.	.	t	17.41	3.381936	0.61845	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4965	0.67691	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXN2	35202851	1.000000	0.71417	0.994000	0.49952	0.628000	0.37860	7.787000	0.85759	1.893000	0.54813	0.358000	0.22013	.		0.537	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473	Intron	5	146	0	0	0	1	0	5	146					A	36872905	T	A	36872905	5	1	322	1	0	0	0	0	0	0	1	0	16788	1565	54	5	246	5	TXN2	22	36872905	Splice_Site	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		36872905	14431661	34	32287											
MAGEB4	4115	broad.mit.edu	37	chrX	30260295	30260295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgtgcccgtgagaaaCgccagcggacccgtggtcag	14	14	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:30260295C>T	ENST00000378982.2	+	1	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(43-45)Cgc>Tgc		melanoma antigen family B, 4							99	79	86					X																	30260295		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260295C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.43C>T	X.37:g.30260295C>T	ENSP00000368266:p.Arg15Cys						p.R15C	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	239	+			15					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.43C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126557	0.37533	.	.	ENSG00000120289	ENST00000378982	T	0.06933	3.24	3.22	-1.76	0.08006	Melanoma associated antigen, MAGE, N-terminal (1);	1.576910	0.05036	U	0.475533	T	0.21062	0.0507	M	0.76574	2.34	0.09310	N	1	D	0.57257	0.979	P	0.56865	0.808	T	0.27706	-1.0066	10	0.44086	T	0.13	.	7.626	0.28212	0.0:0.3504:0.0:0.6496	.	15	O15481	MAGB4_HUMAN	C	15	ENSP00000368266:R15C	ENSP00000368266:R15C	R	+	1	0	MAGEB4	30170216	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.801000	0.01743	-0.647000	0.05444	-0.268000	0.10319	CGC		0.567	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		13	46	0	0	0	1	0	13	46					T	30260295	C	T	30260295	3	4	322	1	0	0	0	0	1	0	0	0	9178	536	19	1	45	1	MAGEB4	23	30260295	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		30260295	125010265	35	32288											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs59641550		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	479	0	0	0	1	0	5	479					G	49355893	C	G	49355893	3	3	322	1	0	0	0	0	1	0	0	0	6190	479	17	4	1282	4	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	19095598	49355893	105914667	36	32289											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	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.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	49	0	0	0	1	0	3	49					A	51076024	G	A	51076024	2	1	322	1	0	0	0	0	0	0	0	1	10726	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1720131	51076024	104194536	37	32290											
ATRX	546	broad.mit.edu	37	chrX	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttgccttcttaatcatctCtttgggcacaattagtgcgg	8	9	3	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:76939697C>A	ENST00000373344.5	-	9	1265	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					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						TTAATCATCTCTTTGGGCACA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1051-1053)Gag>Tag		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						81	78	79					X																	76939697		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939697C>A	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.1051G>T	X.37:g.76939697C>A	ENSP00000362441:p.Glu351*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*|ATRX_ENST00000480283.1_5'UTR	p.E351*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1265	-			351					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1051G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	38	6.875248	0.97904	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.3	4.44	0.53790	.	0.196705	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.1203	13.1753	0.59624	0.0:0.9208:0.0:0.0792	.	.	.	.	X	351;313;307	.	ENSP00000362441:E351X	E	-	1	0	ATRX	76826353	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.481000	0.81124	1.014000	0.39417	0.502000	0.49764	GAG		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		39	69	1	0	2.75727e-19	1	2.8654e-19	39	69					A	76939697	C	A	76939697	4	1	322	1	0	0	0	0	0	1	0	0	1208	922	32	4	6535	4	ATRX	23	76939697	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25863673	76939697	78330863	38	32291											
RGAG1	57529	broad.mit.edu	37	chrX	109694050	109694050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccacacagttgatgacatctCcagtctttgacaccatgtct	6	13	3	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:109694050C>G	ENST00000465301.2	+	3	451	c.205C>G	c.(205-207)Cca>Gca	p.P69A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P69A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	69										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						GATGACATCTCCAGTCTTTGA	0.517											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000465301.2																			0				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						c.(205-207)Cca>Gca		retrotransposon gag domain containing 1							240	208	219					X																	109694050		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694050C>G	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.205C>G	X.37:g.109694050C>G	ENSP00000419786:p.Pro69Ala		OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1421	RGAG1_ENST00000540313.1_Missense_Mutation_p.P69A	p.P69A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	451	+			69					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.205C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	7.197	0.592668	0.13875	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.66099	-0.19;-0.19	4.16	1.38	0.22167	.	0.459089	0.16314	N	0.219845	T	0.41789	0.1174	L	0.29908	0.895	0.09310	N	1	B	0.25563	0.129	B	0.23419	0.046	T	0.17258	-1.0375	9	.	.	.	-3.9455	3.7088	0.08411	0.0:0.5612:0.2023:0.2365	.	69	Q8NET4	RGAG1_HUMAN	A	69	ENSP00000419786:P69A;ENSP00000441452:P69A	.	P	+	1	0	RGAG1	109580706	0.001000	0.12720	0.058000	0.19502	0.086000	0.17979	-0.052000	0.11865	0.147000	0.19030	-0.208000	0.12717	CCA		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		25	303	0	0	0	1	0	25	303					G	109694050	C	G	109694050	3	3	322	1	0	0	0	0	1	0	0	0	13274	855	30	4	207	4	RGAG1	23	109694050	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	32754353	109694050	45576510	39	32292											
GPR112	139378	broad.mit.edu	37	chrX	135429890	135429890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcacacagattacaccaaCcttgacctcaagtaacacag	5	13	1	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:135429890C>A	ENST00000394143.1	+	6	4316	c.4025C>A	c.(4024-4026)aCc>aAc	p.T1342N	GPR112_ENST00000370652.1_Missense_Mutation_p.T1342N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1279N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1137N|GPR112_ENST00000412101.1_Missense_Mutation_p.T1137N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1342					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTACACCAACCTTGACCTCA	0.463																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4024-4026)aCc>aAc		G protein-coupled receptor 112							127	110	116					X																	135429890		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429890C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4025C>A	X.37:g.135429890C>A	ENSP00000377699:p.Thr1342Asn					GPR112_ENST00000412101.1_Missense_Mutation_p.T1137N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1279N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1137N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1342N	p.T1342N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4316	+	Acute lymphoblastic leukemia(192;0.000127)		1342					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4025C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	3.181	-0.167967	0.06461	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39229	1.13;1.13;1.09;1.2;1.09	3.05	-2.19	0.07015	.	.	.	.	.	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	P;B;B	0.36535	0.557;0.16;0.099	B;B;B	0.33121	0.125;0.158;0.076	T	0.11421	-1.0588	9	0.49607	T	0.09	.	4.2296	0.10597	0.0:0.2725:0.1912:0.5362	.	1279;1137;1342	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	1342;1342;1137;1279;1137	ENSP00000377699:T1342N;ENSP00000359686:T1342N;ENSP00000416526:T1137N;ENSP00000287534:T1279N;ENSP00000377697:T1137N	ENSP00000287534:T1279N	T	+	2	0	GPR112	135257556	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.590000	0.05760	-0.628000	0.05582	-0.309000	0.09137	ACC		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	131	1	0	0.217242	1	0.217242	6	131					A	135429890	C	A	135429890	3	1	322	1	0	0	0	0	1	0	0	0	6629	507	18	4	4035	4	GPR112	23	135429890	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25735840	135429890	19840670	40	32293											
MCF2	4168	broad.mit.edu	37	chrX	138711938	138711938	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagttctgtctcagccagTtcagttccaaaggactgtaa	10	9	3	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:138711938T>A	ENST00000370576.4	-	4	563	c.354A>T	c.(352-354)gaA>gaT	p.E118D	MCF2_ENST00000519895.1_Missense_Mutation_p.E178D|MCF2_ENST00000536274.1_Missense_Mutation_p.E79D|MCF2_ENST00000370573.4_Missense_Mutation_p.E118D|MCF2_ENST00000370578.4_Missense_Mutation_p.E263D|MCF2_ENST00000338585.6_Missense_Mutation_p.E118D|MCF2_ENST00000520602.1_Missense_Mutation_p.E178D|MCF2_ENST00000414978.1_Missense_Mutation_p.E178D	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	118					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)					TCTCAGCCAGTTCAGTTCCAA	0.398																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(532-534)gaA>gaT		MCF.2 cell line derived transforming sequence							194	187	189					X																	138711938		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138711938T>A		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.354A>T	X.37:g.138711938T>A	ENSP00000359608:p.Glu118Asp					MCF2_ENST00000338585.6_Missense_Mutation_p.E118D|MCF2_ENST00000414978.1_Missense_Mutation_p.E178D|MCF2_ENST00000370573.4_Missense_Mutation_p.E118D|MCF2_ENST00000370576.4_Missense_Mutation_p.E118D|MCF2_ENST00000536274.1_Missense_Mutation_p.E79D|MCF2_ENST00000370578.4_Missense_Mutation_p.E263D|MCF2_ENST00000519895.1_Missense_Mutation_p.E178D	p.E178D			P10911	MCF2_HUMAN			7	819	-	Acute lymphoblastic leukemia(192;0.000127)		118					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.534A>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317726	0.60524	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.43294	1.19;1.13;0.95;1.19;1.19;1.24;1.16;1.2	5.17	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.62016	1.91	0.31052	N	0.715116	B;D;B;B;B;B;D;B	0.89917	0.204;0.999;0.307;0.353;0.307;0.204;1.0;0.204	B;D;B;B;B;B;D;B	0.91635	0.1;0.996;0.204;0.188;0.204;0.1;0.999;0.134	T	0.53947	-0.8366	10	0.30854	T	0.27	.	7.4139	0.27034	0.0:0.3172:0.0:0.6828	.	178;263;79;118;118;263;118;118	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	D	178;118;79;263;178;178;118;118	ENSP00000427745:E178D;ENSP00000359608:E118D;ENSP00000438155:E79D;ENSP00000359610:E263D;ENSP00000397055:E178D;ENSP00000430276:E178D;ENSP00000359605:E118D;ENSP00000342204:E118D	ENSP00000342204:E118D	E	-	3	2	MCF2	138539604	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	0.306000	0.19279	0.580000	0.29522	0.425000	0.28330	GAA		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		76	134	0	0	0	1	0	76	134					A	138711938	T	A	138711938	3	1	322	1	0	0	0	0	1	0	0	0	9378	1722	60	5	2591	5	MCF2	23	138711938	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3282048	138711938	16558622	41	32294											
CD99L2	83692	broad.mit.edu	37	chrX	149938823	149938823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttctctcccttcacGtagtctgcgttgagaccctc	8	15	3	1	rs147156476	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:149938823G>A	ENST00000370377.3	-	10	792	c.675C>T	c.(673-675)taC>taT	p.Y225Y	CD99L2_ENST00000466436.1_Silent_p.Y176Y|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Silent_p.Y152Y|CD99L2_ENST00000355149.3_Silent_p.Y153Y	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	225					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTCACGTAGTCTGCGT	0.537																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(673-675)taC>taT		CD99 molecule-like 2		G	,,,,	2,3833		0,1,1,1631,570	202	120	148		456,705,675,459,528	-2.9	1	X	dbSNP_134	148	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD99L2	NM_001184808.1,NM_001242614.1,NM_031462.3,NM_134445.3,NM_134446.3	,,,,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	,,,,	152/190,235/273,225/263,153/191,176/214	149938823	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149938823G>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.675C>T	X.37:g.149938823G>A						CD99L2_ENST00000437787.2_Silent_p.Y152Y|CD99L2_ENST00000355149.3_Silent_p.Y153Y|CD99L2_ENST00000466436.1_Silent_p.Y176Y|CD99L2_ENST00000346693.4_5'UTR	p.Y225Y	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			10	792	-	Acute lymphoblastic leukemia(192;6.56e-05)		225					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	ENST00000370377.3	37	c.675C>T	CCDS35427.1																																																																																				0.537	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		19	35	0	0	0	1	0	19	35					A	149938823	G	A	149938823	2	1	322	1	0	0	0	0	0	0	0	1	3051	1140	40	1		1	CD99L2	23	149938823	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	11226885	149938823	5331737	42	32295											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	62	0	0	0	1	0	5	62					A	150156360	G	A	150156360	2	1	322	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	217537	150156360	5114200	43	32296											
NAA10	8260	broad.mit.edu	37	chrX	153195525	153195525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgaggtccttgctgTccccaccactatcctcggca	8	18	0	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:153195525T>C	ENST00000464845.1	-	8	941	c.623A>G	c.(622-624)gAc>gGc	p.D208G	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.D193G|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	208					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GTCCTTGCTGTCCCCACCACT	0.617																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(622-624)gAc>gGc		N(alpha)-acetyltransferase 10, NatA catalytic subunit							109	85	93					X																	153195525		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195525T>C	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.623A>G	X.37:g.153195525T>C	ENSP00000417763:p.Asp208Gly					NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.D193G	p.D208G	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN			8	941	-			208					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.623A>G	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376822	0.61735	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.59638	0.25;0.26	5.35	5.35	0.76521	.	0.052011	0.85682	D	0.000000	T	0.50599	0.1625	L	0.43152	1.355	0.51233	D	0.99991	B;B	0.13594	0.008;0.008	B;B	0.11329	0.005;0.006	T	0.47711	-0.9096	10	0.49607	T	0.09	-39.9726	13.3468	0.60578	0.0:0.0:0.0:1.0	.	193;208	A6NM98;P41227	.;NAA10_HUMAN	G	208;193	ENSP00000417763:D208G;ENSP00000359026:D193G	ENSP00000359026:D193G	D	-	2	0	NAA10	152848719	1.000000	0.71417	0.951000	0.38953	0.962000	0.63368	7.282000	0.78630	1.794000	0.52575	0.425000	0.28330	GAC		0.617	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		4	95	0	0	0	1	0	4	95					C	153195525	T	C	153195525	3	2	322	1	0	0	0	0	1	0	0	0	10116	1667	58	3	88	3	NAA10	23	153195525	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3039165	153195525	2075035	44	32297											
KIAA1324	57535	broad.mit.edu	37	chr1	109716150	109716150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaccacagccttctcaGtatggaccaaagtacccaag	9	12	1	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:109716150G>A	ENST00000369939.3	+	6	934	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	251					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)		AGCCTTCTCAGTATGGACCAA	0.453																																						ENST00000369939.3																			0				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						c.(751-753)Gta>Ata		KIAA1324							171	152	159					1																	109716150		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109716150G>A	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.751G>A	1.37:g.109716150G>A	ENSP00000358955:p.Val251Ile					KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	p.V251I	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	6	934	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	251					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.751G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	6.037	0.375217	0.11409	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.29397	1.57;1.57;1.57	5.1	4.15	0.48705	.	0.232106	0.36555	N	0.002534	T	0.15305	0.0369	L	0.39898	1.24	0.19575	N	0.999961	P;B;P;P	0.49090	0.841;0.4;0.919;0.838	B;B;P;B	0.46659	0.441;0.121;0.523;0.437	T	0.06552	-1.0820	10	0.21014	T	0.42	-9.242	12.527	0.56091	0.0:0.0:0.7018:0.2982	.	251;251;251;251	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	I	251	ENSP00000358955:V251I;ENSP00000393964:V251I;ENSP00000434595:V251I	ENSP00000358955:V251I	V	+	1	0	KIAA1324	109517673	0.559000	0.26562	1.000000	0.80357	0.454000	0.32378	0.952000	0.29149	2.383000	0.81215	0.645000	0.84053	GTA		0.453	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		13	72	0	0	0	1	0	13	72					A	109716150	G	A	109716150	3	1	323	1	0	0	0	0	1	0	0	0	8223	1029	36	2	773	2	KIAA1324	1	109716150	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		109716150	139534471	1	32298											
FCRL5	83416	broad.mit.edu	37	chr1	157490931	157490931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgctcctccagagggggaCgacctatttcctagggtgac	13	12	0	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:157490931C>T	ENST00000361835.3	-	11	2548	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_ENST00000356953.4_Silent_p.S797S|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.				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)				CAGAGGGGGACGACCTATTTC	0.592																																						ENST00000361835.3																			0				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						c.(2389-2391)tcG>tcA		Fc receptor-like 5							75	81	79					1																	157490931		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157490931C>T	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.2391G>A	1.37:g.157490931C>T						FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S797S	p.S797S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			11	2548	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	797			Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2391G>A	CCDS1165.1																																																																																				0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		28	107	0	0	0	1	0	28	107					T	157490931	C	T	157490931	2	4	323	1	0	0	0	0	0	0	0	1	5798	523	19	1		1	FCRL5	1	157490931	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	47774781	157490931	91759690	2	32299											
PEA15	8682	broad.mit.edu	37	chr1	160181386	160181386	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaccaacaacatcacccttGaagatctagaacagctcaag	6	12	3	4			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:160181386G>T	ENST00000360472.4	+	2	240	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368076.1_Nonsense_Mutation_p.E39*|RP11-536C5.7_ENST00000418602.1_RNA	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	18	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCCTTGAAGATCTAGA	0.532																																						ENST00000368076.1																			0				large_intestine(1)|lung(4)	5						c.(115-117)Gaa>Taa		phosphoprotein enriched in astrocytes 15							134	111	119					1																	160181386		2203	4300	6503	SO:0001587	stop_gained	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160181386G>T	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"Phosphoprotein enriched in astrocytes, 15kD", "homolog of mouse MAT-1 oncogene"	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.52G>T	1.37:g.160181386G>T	ENSP00000353660:p.Glu18*					PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000360472.4_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR	p.E39*			Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	463	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		18			DED.		B1AKZ3|O00511	Nonsense_Mutation	SNP	ENST00000360472.4	37	c.115G>T	CCDS1199.1	.	.	.	.	.	.	.	.	.	.	G	36	5.787098	0.96937	.	.	ENSG00000162734	ENST00000360472;ENST00000368077;ENST00000368076	.	.	.	4.77	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.7812	12.5554	0.56250	0.0853:0.0:0.9147:0.0	.	.	.	.	X	18;18;39	.	ENSP00000353660:E18X	E	+	1	0	PEA15	158448010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.890000	0.75633	2.493000	0.84123	0.555000	0.69702	GAA		0.532	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		14	112	1	0	8.60227e-14	1	9.60254e-14	14	112					T	160181386	G	T	160181386	4	4	323	1	0	0	0	0	0	1	0	0	11711	1291	45	4	54	4	PEA15	1	160181386	Nonsense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	2690455	160181386	89069235	3	32300											
DENND1B	163486	broad.mit.edu	37	chr1	197611924	197611924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgttgttcacatccaCggcaacaaaatattctgtaa	6	10	2	0			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:197611924C>T	ENST00000367396.3	-	10	758	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DENND1B_ENST00000235453.4_Missense_Mutation_p.V167M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	197	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTCACATCCACGGCAACAAAA	0.373																																						ENST00000235453.4																			0				NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						c.(499-501)Gtg>Atg		DENN/MADD domain containing 1B							69	62	65					1																	197611924		1972	4221	6193	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197611924C>T	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.589G>A	1.37:g.197611924C>T	ENSP00000356366:p.Val197Met					DENND1B_ENST00000367396.3_Missense_Mutation_p.V197M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M	p.V167M			Q6P3S1	DEN1B_HUMAN			10	776	-			197			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.499G>A	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213620	0.58452	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967;ENST00000422998	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	4.46	4.46	0.54185	DENN (3);	0.000000	0.64402	D	0.000001	T	0.40767	0.1130	M	0.80746	2.51	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.72338	0.977;0.975;0.841	T	0.46707	-0.9172	10	0.72032	D	0.01	-15.9383	17.4732	0.87652	0.0:1.0:0.0:0.0	.	197;197;167	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	M	197;177;167;197;167;141	ENSP00000235453:V167M;ENSP00000356366:V197M;ENSP00000383751:V167M;ENSP00000410025:V141M	ENSP00000235453:V167M	V	-	1	0	DENND1B	195878547	1.000000	0.71417	0.978000	0.43139	0.228000	0.25075	7.445000	0.80570	2.188000	0.69820	0.650000	0.86243	GTG		0.373	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		4	20	0	0	0	1	0	4	20					T	197611924	C	T	197611924	3	4	323	1	0	0	0	0	1	0	0	0	4427	536	19	1	1835	1	DENND1B	1	197611924	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	37430538	197611924	51638697	4	32301											
PCBP1	5093	broad.mit.edu	37	chr2	70315908	70315908	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcccagtatctaatcaatGccaggctttcctctgagaag	9	11	3	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:70315908G>C	ENST00000303577.5	+	1	1324	c.1033G>C	c.(1033-1035)Gcc>Ccc	p.A345P	PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	345					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTAATCAATGCCAGGCTTTC	0.498																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(1033-1035)Gcc>Ccc		poly(rC) binding protein 1							35	37	36					2																	70315908		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315908G>C		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein E1"	601209	"poly(rC)-binding protein 1"			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1033G>C	2.37:g.70315908G>C	ENSP00000305556:p.Ala345Pro					PCBP1-AS1_ENST00000596028.1_RNA	p.A345P	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	1324	+			345					Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.1033G>C	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747685	0.69533	.	.	ENSG00000169564	ENST00000303577	T	0.33865	1.39	3.66	3.66	0.41972	K Homology (1);	0.133205	0.49916	D	0.000127	T	0.53465	0.1798	M	0.77820	2.39	0.58432	D	0.999998	D	0.56746	0.977	P	0.58266	0.836	T	0.54309	-0.8313	10	0.33141	T	0.24	.	13.6516	0.62314	0.0:0.0:1.0:0.0	.	345	Q15365	PCBP1_HUMAN	P	345	ENSP00000305556:A345P	ENSP00000305556:A345P	A	+	1	0	PCBP1	70169412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.512000	0.98008	2.345000	0.79718	0.563000	0.77884	GCC		0.498	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		13	37	0	0	0	1	0	13	37					C	70315908	G	C	70315908	3	2	323	1	0	0	0	0	1	0	0	0	11500	1319	46	4	1035	4	PCBP1	2	70315908	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		70315908	172883465	5	32302											
MYO7B	4648	broad.mit.edu	37	chr2	128389239	128389239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaccctggagctcaccgaCcagatcttcacactggccct	7	19	3	1	rs367784789		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:128389239C>A	ENST00000409816.2	+	36	5114	c.5082C>A	c.(5080-5082)gaC>gaA	p.D1694E	MYO7B_ENST00000409090.1_Missense_Mutation_p.D547E|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1694E|MYO7B_ENST00000389524.4_Missense_Mutation_p.D1695E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1694	MyTH4 2. {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)		AGCTCACCGACCAGATCTTCA	0.647																																						ENST00000389524.4																			0				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						c.(5083-5085)gaC>gaA		myosin VIIB							47	55	52					2																	128389239		2200	4284	6484	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389239C>A		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.5082C>A	2.37:g.128389239C>A	ENSP00000386461:p.Asp1694Glu					MYO7B_ENST00000409816.2_Missense_Mutation_p.D1694E|MYO7B_ENST00000409090.1_Missense_Mutation_p.D547E|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1694E	p.D1695E			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	37	5138	+	Colorectal(110;0.1)		1694			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5085C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198301	0.79015	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.23	2.4	0.29515	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.81682	2.555	0.42207	D	0.991795	D	0.89917	1.0	D	0.77557	0.99	D	0.92548	0.6047	10	0.51188	T	0.08	.	9.07	0.36486	0.0:0.7101:0.0:0.2899	.	1694	Q6PIF6	MYO7B_HUMAN	E	1695;1694;790;1694;547	ENSP00000374175:D1695E;ENSP00000415090:D1694E;ENSP00000386461:D1694E;ENSP00000386850:D547E	ENSP00000272666:D790E	D	+	3	2	MYO7B	128105709	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.417000	0.34770	0.579000	0.29504	0.563000	0.77884	GAC		0.647	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		4	56	1	0	0.014758	1	0.015072	4	56					A	128389239	C	A	128389239	3	1	323	1	0	0	0	0	1	0	0	0	10083	506	18	4	5224	4	MYO7B	2	128389239	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	58073331	128389239	114810134	6	32303											
TTN	7273	broad.mit.edu	37	chr2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgcatcaagccaatgaCgcctggcacaattcggccag	10	15	1	1	rs149059189		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:179500810C>T	ENST00000591111.1	-	176	36789	c.36565G>A	c.(36565-36567)Gtc>Atc	p.V12189I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I|TTN_ENST00000589042.1_Missense_Mutation_p.V13830I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I			Q8WZ42	TITIN_HUMAN	titin	12189	Ig-like 81.				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)			AAGCCAATGACGCCTGGCACA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17548	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(41488-41490)Gtc>Atc		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4073		0,5,2034	87	90	89		14869,14668,33784,14293	-0.1	0	2	dbSNP_134	89	0,8364		0,0,4182	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,5,6216	TT,TC,CC		0.0,0.1226,0.0402	benign,benign,benign,benign	4957/27119,4890/27052,11262/33424,4765/26927	179500810	5,12437	2039	4182	6221	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500810C>T	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.36565G>A	2.37:g.179500810C>T	ENSP00000465570:p.Val12189Ile					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12189I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.V13830I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	41712	-			12189			Ig-like 94.		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	ENST00000591111.1	37	c.41488G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.187	0.220128	0.09863	0.001226	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.8	-0.0788	0.13713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.17474	0.49	0.19775	N	0.999951	B;B;B;B	0.16802	0.019;0.019;0.019;0.019	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.39761	-0.9598	9	0.87932	D	0	.	12.0671	0.53594	0.0:0.5175:0.0:0.4825	.	4765;4890;4957;12189	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11262;4765;4957;4890;4765	ENSP00000343764:V11262I;ENSP00000434586:V4765I;ENSP00000340554:V4957I;ENSP00000352154:V4890I	ENSP00000340554:V4957I	V	-	1	0	TTN	179209055	0.003000	0.15002	0.015000	0.15790	0.197000	0.23852	0.055000	0.14229	-0.306000	0.08818	-0.237000	0.12165	GTC		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	75	0	0	0	1	0	17	75					T	179500810	C	T	179500810	3	4	323	1	0	0	0	0	1	0	0	0	16732	536	19	1	66753	1	TTN	2	179500810	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	51111571	179500810	63698563	7	32304											
AOX1	316	broad.mit.edu	37	chr2	201478596	201478596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctcccttttgggctcGgcgccaggtgggaaagtgga	16	9	1	0			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	506					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1516-1518)tcG>tcA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94	90	92					2																	201478596		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478596G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1518G>A	2.37:g.201478596G>A						AOX1_ENST00000485106.1_3'UTR	p.S506S	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			15	1759	+			506					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1518G>A	CCDS33360.1																																																																																				0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		11	35	0	0	0	1	0	11	35					A	201478596	G	A	201478596	2	1	323	1	0	0	0	0	0	0	0	1	729	1103	39	1		1	AOX1	2	201478596	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	21977786	201478596	41720777	8	32305											
NRP2	8828	broad.mit.edu	37	chr2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaggtttgttagaatcCgccctcagacctggcactca	9	12	2	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:206605324C>T	ENST00000357785.5	+	8	1259	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000360409.3_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R410C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557																																						ENST00000360409.3																			1	Substitution - Missense(1)	p.R410C(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1228-1230)Cgc>Tgc		neuropilin 2							127	106	113					2																	206605324		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206605324C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1228C>T	2.37:g.206605324C>T	ENSP00000350432:p.Arg410Cys					NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000357785.5_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C	p.R410C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			8	2019	+			410			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1228C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780182	0.70222	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.97	5.1	0.69264	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	L	0.60904	1.88	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	0.91635	0.998;0.998;0.999;0.996;0.996;0.993	D	0.98708	1.0703	10	0.72032	D	0.01	-25.332	15.1719	0.72881	0.0:0.9326:0.0:0.0674	.	410;410;410;410;410;410	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	410	ENSP00000353582:R410C;ENSP00000439658:R410C;ENSP00000439261:R410C;ENSP00000347238:R410C;ENSP00000387519:R410C;ENSP00000349632:R410C;ENSP00000350432:R410C;ENSP00000407626:R410C;ENSP00000272849:R410C	ENSP00000272849:R410C	R	+	1	0	NRP2	206313569	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	2.780000	0.47742	1.546000	0.49388	-0.136000	0.14681	CGC		0.557	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			20	69	0	0	0	1	0	20	69					T	206605324	C	T	206605324	3	4	323	1	0	0	0	0	1	0	0	0	10661	652	23	1	1258	1	NRP2	2	206605324	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	5126728	206605324	36594049	9	32306											
ALPP	250	broad.mit.edu	37	chr2	233246473	233246475	+	In_Frame_Del	DEL	CTG	CTG	-													ttcctctgctggccgggaccCtgctgctgctggagacggcc					rs1048998	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:233246473_233246475delCTG	ENST00000392027.2	+	11	1845_1847	c.1576_1578delCTG	c.(1576-1578)ctgdel	p.L529del	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	529					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCGGGACCCTGCTGCTGCTGG	0.734																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1576-1578)del		alkaline phosphatase, placental																																				SO:0001651	inframe_deletion	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246473_233246475delCTG	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1576_1578delCTG	2.37:g.233246482_233246484delCTG	ENSP00000375881:p.Leu529del						p.L529del	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1845_1847	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	529					P05188|P06861|Q53S78|Q96DB7	In_Frame_Del	DEL	ENST00000392027.2	37	c.1576_1578delCTG	CCDS2490.1																																																																																				0.734	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		2	4						2	4	---	---	---	---	-	233246475	CTG	-	233246473	7	5	323	1	0	1	0	1	0	0	0	0	548	680	24	0	1618	0	ALPP	2	233246473	In_Frame_Del	DEL	CTG	TCGA-HT-A617-01A-11D-A29Q-08	26641149	233246473	9952900	10	32307											
CYP8B1	1582	broad.mit.edu	37	chr3	42916689	42916689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagaaggtcaaacttgCggaactccatgaataactct	9	8	2	2	rs368892456		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:42916689C>T	ENST00000316161.4	-	1	944	c.620G>A	c.(619-621)cGc>cAc	p.R207H	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R207H|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	207					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|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)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCAAACTTGCGGAACTCCAT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20547	0.001		0.0	False		,,,				2504	0.0					ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(619-621)cGc>cAc		cytochrome P450, family 8, subfamily B, polypeptide 1		C	HIS/ARG	0,4406		0,0,2203	51	51	51		620	2.8	0	3		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP8B1	NM_004391.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/502	42916689	1,13005	2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916689C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.620G>A	3.37:g.42916689C>T	ENSP00000318867:p.Arg207His					ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R207H	p.R207H	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	944	-			207					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.620G>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340905	0.41498	0.0	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68765	-0.35;-0.35	5.56	2.77	0.32553	.	0.066079	0.64402	D	0.000011	T	0.74321	0.3701	M	0.77313	2.365	0.43756	D	0.996266	D;D	0.63880	0.993;0.987	D;P	0.64042	0.921;0.809	T	0.69529	-0.5121	10	0.20046	T	0.44	-8.1441	6.2286	0.20722	0.264:0.5925:0.0:0.1435	.	207;207	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	H	207	ENSP00000404499:R207H;ENSP00000318867:R207H	ENSP00000318867:R207H	R	-	2	0	CYP8B1	42891693	0.995000	0.38212	0.001000	0.08648	0.001000	0.01503	3.272000	0.51616	0.289000	0.22422	-0.320000	0.08662	CGC		0.527	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		5	98	0	0	0	1	0	5	98					T	42916689	C	T	42916689	3	4	323	1	0	0	0	0	1	0	0	0	4198	768	27	1	889	1	CYP8B1	3	42916689	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		42916689	155105741	11	32308											
NISCH	11188	broad.mit.edu	37	chr3	52489675	52489675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatggcgaccgcgcgcacCttcgggcccgagcgggaagc	15	15	0	0			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:52489675C>T	ENST00000479054.1	+	2	90	c.18C>T	c.(16-18)acC>acT	p.T6T	NISCH_ENST00000420808.2_Silent_p.T6T|NISCH_ENST00000345716.4_Silent_p.T6T|TNNC1_ENST00000232975.3_5'Flank|NISCH_ENST00000488380.1_Silent_p.T6T			Q9Y2I1	NISCH_HUMAN	nischarin	6	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCGCGCGCACCTTCGGGCCCG	0.746																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(16-18)acC>acT		nischarin							5	7	6					3																	52489675		1747	3693	5440	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52489675C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.18C>T	3.37:g.52489675C>T						NISCH_ENST00000488380.1_Silent_p.T6T|NISCH_ENST00000479054.1_Silent_p.T6T|NISCH_ENST00000420808.2_Silent_p.T6T	p.T6T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	1	152	+			6			Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.18C>T	CCDS33767.1																																																																																				0.746	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		4	10	0	0	0	1	0	4	10					T	52489675	C	T	52489675	2	4	323	1	0	0	0	0	0	0	0	1	10432	668	24	2		2	NISCH	3	52489675	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	9572986	52489675	145532755	12	32309											
GRAMD1C	54762	broad.mit.edu	37	chr3	113563352	113563352	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgatatttgtttccaggtGatgaatgaaggggattcaag	12	3	1	4			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:113563352G>T	ENST00000358160.4	+	2	522	c.30G>T	c.(28-30)gtG>gtT	p.V10V	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTTTCCAGGTGATGAATGAAG	0.318																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(28-30)gtG>gtT		GRAM domain containing 1C							101	105	103					3																	113563352		2203	4300	6503	SO:0001819	synonymous_variant	54762					integral to membrane		g.chr3:113563352G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.30G>T	3.37:g.113563352G>T						GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.V10V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			2	522	+			10					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	c.30G>T	CCDS33826.1																																																																																				0.318	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		4	71	1	0	1	1	1	4	71					T	113563352	G	T	113563352	2	4	323	1	0	0	0	0	0	0	0	1	6749	1277	45	4		4	GRAMD1C	3	113563352	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	61073677	113563352	84459078	13	32310											
ADD1	118	broad.mit.edu	37	chr4	2877687	2877687	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtgacctcaccacccccGaccacagcccctcacaagga	8	19	2	1	rs140936293	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:2877687G>A	ENST00000398129.1	+	1	65	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P|ADD1_ENST00000355842.3_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000264758.7_Silent_p.P15P|ADD1_ENST00000398123.2_Silent_p.P15P			P35611	ADDA_HUMAN	adducin 1 (alpha)	15					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)		CACCACCCCCGACCACAGCCC	0.478																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(43-45)ccG>ccA		adducin 1 (alpha)							126	132	130					4																	2877687		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877687G>A	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.45G>A	4.37:g.2877687G>A						ADD1_ENST00000398123.2_Silent_p.P15P|ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398129.1_Silent_p.P15P|ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000264758.7_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P	p.P15P			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	908	+			15					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.45G>A	CCDS43205.1																																																																																				0.478	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		24	146	0	0	0	1	0	24	146					A	2877687	G	A	2877687	2	1	323	1	0	0	0	0	0	0	0	1	304	1045	37	1		1	ADD1	4	2877687	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		2877687	188276589	14	32311											
NFXL1	152518	broad.mit.edu	37	chr4	47850315	47850315	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctgttcttcttccgAcgacccttcagtctgttttc	5	14	4	0			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:47850315A>T	ENST00000507489.1	-	23	2777	c.2601T>A	c.(2599-2601)cgT>cgA	p.R867R	NFXL1_ENST00000381538.3_Silent_p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	867						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTTCTTCCGACGACCCTTCA	0.348																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(2599-2601)cgT>cgA		nuclear transcription factor, X-box binding-like 1							144	138	140					4																	47850315		2203	4300	6503	SO:0001819	synonymous_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47850315A>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2601T>A	4.37:g.47850315A>T						NFXL1_ENST00000381538.3_Silent_p.R867R	p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			23	2777	-			867					B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	c.2601T>A	CCDS3478.2																																																																																				0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		7	29	0	0	0	1	0	7	29					T	47850315	A	T	47850315	2	4	323	1	0	0	0	0	0	0	0	1	10388	262	10	5		5	NFXL1	4	47850315	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	44972628	47850315	143303961	15	32312											
TMEM150C	441027	broad.mit.edu	37	chr4	83417256	83417256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggtcattccgaaggaagCcagacacagagccaccaatc	9	12	1	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:83417256C>T	ENST00000515780.2	-	6	532	c.328G>A	c.(328-330)Gct>Act	p.A110T	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T|TMEM150C_ENST00000449862.2_Missense_Mutation_p.A110T			B9EJG8	T150C_HUMAN	transmembrane protein 150C	110						integral component of membrane (GO:0016021)				ovary(1)	1						CCGAAGGAAGCCAGACACAGA	0.453																																						ENST00000449862.2																			0				ovary(1)	1						c.(328-330)Gct>Act		transmembrane protein 150C							93	95	95					4																	83417256		1917	4136	6053	SO:0001583	missense	441027					integral to membrane		g.chr4:83417256C>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.328G>A	4.37:g.83417256C>T	ENSP00000420919:p.Ala110Thr					RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000515780.1_Missense_Mutation_p.A110T|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T	p.A110T	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN			6	646	-			110					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.328G>A	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857581	0.51376	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701	T;T;T	0.43688	0.94;0.94;0.94	5.59	4.74	0.60224	.	.	.	.	.	T	0.25827	0.0629	N	0.20986	0.625	0.40503	D	0.980661	B;B	0.23377	0.084;0.021	B;B	0.18561	0.022;0.013	T	0.08229	-1.0732	9	0.16420	T	0.52	-6.5083	9.2741	0.37690	0.1461:0.7819:0.0:0.072	.	110;110	B9EJG8-2;B9EJG8	.;T150C_HUMAN	T	110	ENSP00000403438:A110T;ENSP00000420919:A110T;ENSP00000421812:A110T	ENSP00000403438:A110T	A	-	1	0	TMEM150C	83636280	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.050000	0.41297	1.333000	0.45449	0.305000	0.20034	GCT		0.453	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		13	90	0	0	0	1	0	13	90					T	83417256	C	T	83417256	3	4	323	1	0	0	0	0	1	0	0	0	16066	739	26	2	433	2	TMEM150C	4	83417256	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	35566941	83417256	107737020	16	32313											
DCLK2	166614	broad.mit.edu	37	chr4	151153904	151153904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggcagtgccatggtgtAcaacttagccaatgccctca	10	11	1	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:151153904A>G	ENST00000296550.7	+	10	2244	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C|DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCATGGTGTACAACTTAGCC	0.448																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(1489-1491)tAc>tGc		doublecortin-like kinase 2							269	232	245					4																	151153904		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153904A>G	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1490A>G	4.37:g.151153904A>G	ENSP00000296550:p.Tyr497Cys					DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C|DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C	p.Y497C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			10	2244	+	all_hematologic(180;0.151)		497			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1490A>G	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524659	0.44969	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.40476	1.03;1.03;1.03	6.02	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175198	0.52532	D	0.000062	T	0.44705	0.1306	L	0.28014	0.82	0.50171	D	0.999852	D;D;B	0.63046	0.991;0.992;0.033	P;P;B	0.57324	0.818;0.794;0.091	T	0.31943	-0.9925	10	0.40728	T	0.16	.	12.7123	0.57096	0.8766:0.0:0.0:0.1234	.	514;496;497	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	C	497;496;514	ENSP00000296550:Y497C;ENSP00000427235:Y496C;ENSP00000303887:Y514C	ENSP00000296550:Y497C	Y	+	2	0	DCLK2	151373354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	1.080000	0.41073	0.533000	0.62120	TAC		0.448	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		28	147	0	0	0	1	0	28	147					G	151153904	A	G	151153904	3	3	323	1	0	0	0	0	1	0	0	0	4292	391	14	3	1528	3	DCLK2	4	151153904	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	67736648	151153904	40000372	17	32314											
SFRS12	140890	broad.mit.edu	37	chr5	65460676	65460676	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atactcgctcaaaatccaggTctagctcaaaatcccattct	4	13	4	0			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr5:65460676T>A	ENST00000380918.3	+	8	1264	c.604T>A	c.(604-606)Tct>Act	p.S202T	SREK1_ENST00000334121.6_Missense_Mutation_p.S318T|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	202	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAATCCAGGTCTAGCTCAAA	0.368																																					GBM(10;31 347 27684 38976 41583)	ENST00000334121.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						c.(952-954)Tct>Act		splicing regulatory glutamine/lysine-rich protein 1							117	117	117					5																	65460676		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65460676T>A	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"RNA binding motif (RRM) containing"	17882	protein-coding gene	gene with protein product	"serine-arginine-rich splicing regulatory protein 508"	609268	"splicing factor, arginine/serine-rich 12"	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.604T>A	5.37:g.65460676T>A	ENSP00000370305:p.Ser202Thr					SREK1_ENST00000380918.3_Missense_Mutation_p.S202T|SREK1_ENST00000284041.3_3'UTR	p.S318T	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN			7	1111	+			202			Arg/Glu/Lys/Ser-rich.		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.952T>A	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319218	0.41096	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.21734	1.99;1.99	5.4	5.4	0.78164	.	0.227351	0.47455	D	0.000237	T	0.33731	0.0873	L	0.32530	0.975	0.40950	D	0.984532	P;P;D	0.56035	0.956;0.956;0.974	D;D;D	0.70487	0.931;0.931;0.969	T	0.04961	-1.0915	10	0.21540	T	0.41	.	15.7082	0.77602	0.0:0.0:0.0:1.0	.	202;202;318	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	T	318;318;202	ENSP00000334538:S318T;ENSP00000370305:S202T	ENSP00000334538:S318T	S	+	1	0	SREK1	65496432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	2.163000	0.67991	0.533000	0.62120	TCT		0.368	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		26	82	0	0	0	1	0	26	82					A	65460676	T	A	65460676	3	1	323	1	0	0	0	0	1	0	0	0	14167	1667	58	5	978	5	SFRS12	5	65460676	Missense_Mutation	SNP	T	TCGA-HT-A617-01A-11D-A29Q-08		65460676	115454584	18	32315											
RELN	5649	broad.mit.edu	37	chr7	103132428	103132428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagtgtattccagcattaCggaatgaaggtcaccacaag	9	9	1	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:103132428C>T	ENST00000428762.1	-	58	9574	c.9415G>A	c.(9415-9417)Gta>Ata	p.V3139I	RELN_ENST00000343529.5_Missense_Mutation_p.V3139I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3139I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3139					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)		TCCAGCATTACGGAATGAAGG	0.368																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				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						c.(9415-9417)Gta>Ata		reelin							94	84	87					7																	103132428		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132428C>T		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.9415G>A	7.37:g.103132428C>T	ENSP00000392423:p.Val3139Ile					RELN_ENST00000343529.5_Missense_Mutation_p.V3139I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3139I	p.V3139I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9574	-			3139					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9415G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386784	0.82902	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.27104	1.69;1.69;1.69	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.64567	1.98	0.58432	D	0.999999	P;D	0.62365	0.862;0.991	P;P	0.59703	0.515;0.862	T	0.12682	-1.0538	10	0.39692	T	0.17	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	3139;3139	P78509-2;P78509	.;RELN_HUMAN	I	3139;3139;3139;656;3139	ENSP00000392423:V3139I;ENSP00000345694:V3139I;ENSP00000388446:V3139I	ENSP00000345694:V3139I	V	-	1	0	RELN	102919664	1.000000	0.71417	0.856000	0.33681	0.848000	0.48234	7.158000	0.77470	2.815000	0.96918	0.561000	0.74099	GTA		0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	27	0	0	0	1	0	4	27					T	103132428	C	T	103132428	3	4	323	1	0	0	0	0	1	0	0	0	13220	536	19	1	999	1	RELN	7	103132428	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		103132428	56006235	19	32316											
AGAP3	116988	broad.mit.edu	37	chr7	150840451	150840451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaacgctggatacGggccaagtatgaacagaagc	15	7	0	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:150840451G>A	ENST00000463381.1	+	15	1800	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766Q	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTGGATACGGGCCAAGTAT	0.627																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2296-2298)cGg>cAg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							49	56	53					7																	150840451		2118	4247	6365	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840451G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1304G>A	7.37:g.150840451G>A	ENSP00000418016:p.Arg435Gln					AGAP3_ENST00000463381.1_Missense_Mutation_p.R435Q	p.R766Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			17	2297	+			730					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2297G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.249017|5.249017	0.95305|0.95305	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.47528	.|0.84;0.84	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.068783	.|0.64402	.|D	.|0.000013	T|T	0.74627|0.74627	0.3741|0.3741	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.974;0.987;0.999	.|D;P;P;P	.|0.85130	.|0.997;0.49;0.804;0.898	T|T	0.79276|0.79276	-0.1870|-0.1870	5|10	.|0.72032	.|D	.|0.01	.|.	18.0822|18.0822	0.89444|0.89444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|730;265;766;435	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	R|Q	259|435;265;766;730	.|ENSP00000418016:R435Q;ENSP00000380413:R766Q	.|ENSP00000334157:R730Q	G|R	+|+	1|2	0|0	AGAP3|AGAP3	150471384|150471384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.772000|7.772000	0.85439|0.85439	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		14	75	0	0	0	1	0	14	75					A	150840451	G	A	150840451	3	1	323	1	0	0	0	0	1	0	0	0	369	1116	39	1	2430	1	AGAP3	7	150840451	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	47708023	150840451	8298212	20	32317											
KCNU1	157855	broad.mit.edu	37	chr8	36671862	36671862	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccaagacatccttaggacgGaccttcatcatgttcttcac	7	13	4	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:36671862G>T	ENST00000399881.3	+	8	907	c.870G>T	c.(868-870)cgG>cgT	p.R290R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290					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)		CCTTAGGACGGACCTTCATCA	0.353																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(868-870)cgG>cgT		potassium channel, subfamily U, member 1							70	65	66					8																	36671862		1858	4096	5954	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671862G>T	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.870G>T	8.37:g.36671862G>T							p.R290R	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	907	+			290						Silent	SNP	ENST00000399881.3	37	c.870G>T	CCDS55220.1																																																																																				0.353	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		10	18	1	0	3.07112e-06	1	3.35031e-06	10	18					T	36671862	G	T	36671862	2	4	323	1	0	0	0	0	0	0	0	1	8093	1161	41	4		4	KCNU1	8	36671862	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		36671862	109692160	21	32318											
PKHD1L1	93035	broad.mit.edu	37	chr8	110468612	110468612	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacattgtaattgcaagcacAggacacaggtatgatatctt	8	7	1	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:110468612A>G	ENST00000378402.5	+	46	7100	c.6996A>G	c.(6994-6996)acA>acG	p.T2332T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2332					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)			TTGCAAGCACAGGACACAGGT	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(6994-6996)acA>acG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							78	78	78					8																	110468612		1864	4110	5974	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110468612A>G	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.6996A>G	8.37:g.110468612A>G		HNSCC(38;0.096)					p.T2332T	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		46	7100	+			2332					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6996A>G	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	9	0	0	0	1	0	3	9					G	110468612	A	G	110468612	2	3	323	1	0	0	0	0	0	0	0	1	11972	175	7	3		3	PKHD1L1	8	110468612	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	73796750	110468612	35895410	22	32319											
COL5A1	1289	broad.mit.edu	37	chr9	137704486	137704486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggcccccgaggaccctcCggagctccaggtgctgatgg	14	16	0	1	rs150591401	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr9:137704486C>T	ENST00000371817.3	+	48	4194	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCCTCCGGAGCTCCAG	0.637																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3778-3780)tcC>tcT		collagen, type V, alpha 1		C		3,4399		0,3,2198	28	26	26		3780	-4.2	1	9	dbSNP_134	26	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,3,6498	TT,TC,CC		0.0,0.0682,0.0231		1260/1839	137704486	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704486C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3780C>T	9.37:g.137704486C>T							p.S1260S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	48	4194	+		Myeloproliferative disorder(178;0.0341)	1260			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.3780C>T	CCDS6982.1																																																																																				0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	10	0	0	0	1	0	4	10					T	137704486	C	T	137704486	2	4	323	1	0	0	0	0	0	0	0	1	3696	639	23	1		1	COL5A1	9	137704486	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		137704486	3508945	23	32320											
ABTB2	25841	broad.mit.edu	37	chr11	34184211	34184211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccttggtgcgggtccgGctcagccgcacgggcccctc	16	16	1	0			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr11:34184211G>A	ENST00000435224.2	-	10	2554	c.2130C>T	c.(2128-2130)agC>agT	p.S710S	ABTB2_ENST00000298992.2_Silent_p.S524S	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	710					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)				TGCGGGTCCGGCTCAGCCGCA	0.662																																						ENST00000435224.2																			0				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						c.(2128-2130)agC>agT		ankyrin repeat and BTB (POZ) domain containing 2							73	61	65					11																	34184211		2202	4298	6500	SO:0001819	synonymous_variant	25841						DNA binding	g.chr11:34184211G>A	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.2130C>T	11.37:g.34184211G>A						ABTB2_ENST00000298992.2_Silent_p.S524S	p.S710S	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			10	2554	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	524					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	ENST00000435224.2	37	c.2130C>T	CCDS7890.2																																																																																				0.662	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	70	0	0	0	1	0	4	70					A	34184211	G	A	34184211	2	1	323	1	0	0	0	0	0	0	0	1	103	1194	42	2		2	ABTB2	11	34184211	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		34184211	100822305	24	32321											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524502	10524502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccagatagaagtaaaCggaagatattaaaagccaaa	8	6	0	3	rs140651559		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:10524502C>T	ENST00000396560.2	+	3	252	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TAGAAGTAAACGGAAGATATT	0.348																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(25-27)Cgg>Tgg		activating transcription factor 7 interacting protein 2		C	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	64	62	62		25	2.7	0.8	16	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ATF7IP2	NM_024997.2	101	0,2,6494	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging	9/683	10524502	2,12990	2197	4299	6496	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524502C>T	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.25C>T	16.37:g.10524502C>T	ENSP00000379808:p.Arg9Trp					ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron	p.R9W	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	252	+			9					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.25C>T	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164247	0.57476	2.28E-4	1.16E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.30714	1.52;1.52	4.73	2.67	0.31697	.	0.325526	0.21983	N	0.066280	T	0.42539	0.1207	L	0.44542	1.39	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.95	T	0.16928	-1.0386	10	0.87932	D	0	-0.1419	9.5374	0.39231	0.384:0.616:0.0:0.0	.	9;9	Q5U623-2;Q5U623	.;MCAF2_HUMAN	W	9	ENSP00000379808:R9W;ENSP00000348799:R9W	ENSP00000322811:R9W	R	+	1	2	ATF7IP2	10432003	0.611000	0.26992	0.763000	0.31416	0.967000	0.64934	0.902000	0.28459	0.534000	0.28695	0.467000	0.42956	CGG		0.348	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		9	41	0	0	0	1	0	9	41					T	10524502	C	T	10524502	3	4	323	1	0	0	0	0	1	0	0	0	1088	527	19	1	27	1	ATF7IP2	16	10524502	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		10524502	79830251	25	32322											
CDH1	999	broad.mit.edu	37	chr16	68846137	68846137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacagtcactgacaccaacGataatcctccgatcttcaat	4	14	4	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:68846137G>A	ENST00000261769.5	+	8	1299	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CDH1_ENST00000422392.2_Missense_Mutation_p.D370N|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	370	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> A (in a diffuse gastric cancer sample). {ECO:0000269|PubMed:8033105}.		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)	p.D370H(3)|p.S337_T379del(1)|p.?(1)		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)		TGACACCAACGATAATCCTCC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"Mis, N, F, S"	"cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"			E		gastric	"lobular breast, gastric"		5	Substitution - Missense(3)|Unknown(1)|Deletion - In frame(1)	p.D370H(3)|p.S337_T379del(1)|p.?(1)	stomach(4)|breast(1)	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						c.(1108-1110)Gat>Aat		cadherin 1, type 1, E-cadherin (epithelial)							173	134	147					16																	68846137		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68846137G>A	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.1108G>A	16.37:g.68846137G>A	ENSP00000261769:p.Asp370Asn					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D370N	p.D370N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	8	1299	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	370		D -> A (in a diffuse gastric cancer sample).	Cadherin 2.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1108G>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197295	0.79015	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.65549	-0.08;-0.16	5.72	5.72	0.89469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.52532	D	0.000072	D	0.82774	0.5110	M	0.87038	2.855	0.58432	D	0.999998	P;D	0.89917	0.905;1.0	P;D	0.77557	0.524;0.99	D	0.84769	0.0766	10	0.66056	D	0.02	.	19.4813	0.95011	0.0:0.0:1.0:0.0	.	370;370	Q9UII8;P12830	.;CADH1_HUMAN	N	370	ENSP00000261769:D370N;ENSP00000414946:D370N	ENSP00000261769:D370N	D	+	1	0	CDH1	67403638	1.000000	0.71417	0.976000	0.42696	0.060000	0.15804	9.416000	0.97383	2.712000	0.92718	0.555000	0.69702	GAT		0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		18	63	0	0	0	1	0	18	63					A	68846137	G	A	68846137	3	1	323	1	0	0	0	0	1	0	0	0	3095	1058	37	1	1138	1	CDH1	16	68846137	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	58321635	68846137	21508616	26	32323											
MED1	5469	broad.mit.edu	37	chr17	37565209	37565209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgcctgaggaagacaCagaaccactgctggtatact	10	10	0	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37565209C>T	ENST00000300651.6	-	17	3488	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	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)		GAGGAAGACACAGAACCACTG	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				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						c.(3265-3267)Gtg>Atg		mediator complex subunit 1							91	87	88					17																	37565209		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565209C>T	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.3265G>A	17.37:g.37565209C>T	ENSP00000300651:p.Val1089Met	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.V1089M	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	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)	17	3488	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1089			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3265G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158439	0.21454	.	.	ENSG00000125686	ENST00000300651	T	0.32753	1.44	5.87	4.91	0.64330	.	.	.	.	.	T	0.19525	0.0469	N	0.14661	0.345	0.35651	D	0.811784	B	0.14012	0.009	B	0.06405	0.002	T	0.12400	-1.0549	9	0.56958	D	0.05	-3.9687	11.2449	0.48991	0.0:0.8609:0.0:0.1391	.	1089	Q15648	MED1_HUMAN	M	1089	ENSP00000300651:V1089M	ENSP00000300651:V1089M	V	-	1	0	MED1	34818735	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.543000	0.45752	1.633000	0.50488	0.655000	0.94253	GTG		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		21	73	0	0	0	1	0	21	73					T	37565209	C	T	37565209	3	4	323	1	0	0	0	0	1	0	0	0	9425	478	17	2	1484	2	MED1	17	37565209	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		37565209	43630001	27	32324											
C22orf42	150297	broad.mit.edu	37	chr22	32550285	32550285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatattatttttaaccagcGcttggagcgggcgtccaaac	9	11	0	0	rs201406070		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr22:32550285G>A	ENST00000382097.3	-	2	325	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	85										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTAACCAGCGCTTGGAGCGG	0.393													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17631	0.0		0.0	False		,,,				2504	0.0					ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(253-255)Cgc>Tgc		chromosome 22 open reading frame 42							46	51	50					22																	32550285		2192	4289	6481	SO:0001583	missense	150297							g.chr22:32550285G>A	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.253C>T	22.37:g.32550285G>A	ENSP00000371529:p.Arg85Cys						p.R85C	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			2	325	-			85					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.253C>T	CCDS33639.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.254	0.046186	0.08243	.	.	ENSG00000205856	ENST00000382097	T	0.32515	1.45	0.538	-1.08	0.09936	.	.	.	.	.	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.58210	0.835	T	0.15492	-1.0435	8	0.72032	D	0.01	.	.	.	.	.	85	Q6IC83	CV042_HUMAN	C	85	ENSP00000371529:R85C	ENSP00000371529:R85C	R	-	1	0	C22orf42	30880285	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-1.042000	0.03539	-0.583000	0.05921	-1.002000	0.02502	CGC		0.393	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		9	56	0	0	0	1	0	9	56					A	32550285	G	A	32550285	3	1	323	1	0	0	0	0	1	0	0	0	2149	1087	38	1	534	1	C22orf42	22	32550285	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		32550285	18754281	28	32325											
SHROOM2	357	broad.mit.edu	37	chrX	9900906	9900906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaggatgaggattcaAccaggtactgtcctgcgacg	11	11	2	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chrX:9900906A>G	ENST00000380913.3	+	6	3673	c.3583A>G	c.(3583-3585)Acc>Gcc	p.T1195A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1195					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)				TGAGGATTCAACCAGGTACTG	0.627																																						ENST00000380913.3																			0				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						c.(3583-3585)Acc>Gcc		shroom family member 2							30	28	29					X																	9900906		2200	4298	6498	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900906A>G	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.3583A>G	X.37:g.9900906A>G	ENSP00000370299:p.Thr1195Ala					SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A	p.T1195A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3673	+		Hepatocellular(5;0.000888)	1195					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3583A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	0.852	-0.738166	0.03111	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.40225	2.61;1.62;1.04	4.66	-3.15	0.05233	.	0.970977	0.08530	N	0.932121	T	0.20577	0.0495	N	0.21373	0.66	0.09310	N	1	B;B	0.24426	0.0;0.103	B;B	0.20767	0.0;0.031	T	0.21759	-1.0236	10	0.19147	T	0.46	-5.6851	2.0514	0.03571	0.2448:0.2537:0.3733:0.1282	.	30;1195	Q68DU3;Q13796	.;SHRM2_HUMAN	A	1195;30;30;30	ENSP00000370299:T1195A;ENSP00000415229:T30A;ENSP00000406724:T30A	ENSP00000370299:T1195A	T	+	1	0	SHROOM2	9860906	0.001000	0.12720	0.002000	0.10522	0.094000	0.18550	-0.035000	0.12205	-0.603000	0.05767	0.425000	0.28330	ACC		0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		14	23	0	0	0	1	0	14	23					G	9900906	A	G	9900906	3	3	323	1	0	0	0	0	1	0	0	0	14294	43	2	3	3605	3	SHROOM2	23	9900906	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08		9900906	145369654	29	32326											
ABCA4	24	broad.mit.edu	37	chr1	94480119	94480120	+	Nonsense_Mutation	DNP	CC	CC	AA													ccggttattctcaaataattCcaagatgaaggtaatagcac							TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480119_94480120CC>AA	ENST00000370225.3	-	38	5525_5526	c.5439_5440GG>TT	c.(5437-5442)ttGGaa>ttTTaa	p.1813_1814LE>F*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.83_84LE>F*|ABCA4_ENST00000535881.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1813					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAAATAATTCCAAGATGAAGG	0.441																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(5440-5442)Gaa>Taa|c.(5437-5439)ttG>ttT		ATP-binding cassette, sub-family A (ABC1), member 4																																				SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94480119C>A|g.chr1:94480120C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5439_5440delinsAA	1.37:g.94480119_94480120delinsAA	ENSP00000359245:p.L1813_E1814delinsF*					ABCA4_ENST00000536513.1_Nonsense_Mutation_p.E84*|ABCA4_ENST00000536513.1_Missense_Mutation_p.L83F	p.E1814*|p.L1813F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	38	5526|5525	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1814|1813					O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000370225.3	37	c.5440G>T|c.5439G>T	CCDS747.1																																																																																				0.441	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		32	169|172	1	0	6.00712e-18	1	6.82628e-18	32	169					AA	94480120	CC	AA	94480119	4	1	324	1	0	0	0	0	0	1	0	0	34	864	30	4	1433	4	ABCA4	1	94480119	Nonsense_Mutation	DNP	CC	TCGA-HT-A618-01A-11D-A29Q-08		94480119	154770502	1	32327											
FLG	2312	broad.mit.edu	37	chr1	152282080	152282080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagaggaaagaccctgaaCgtccagacctttcccctgac	10	13	0	5	rs375545359		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:152282080C>T	ENST00000368799.1	-	3	5317	c.5282G>A	c.(5281-5283)cGt>cAt	p.R1761H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1761	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)			AGACCCTGAACGTCCAGACCT	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(5281-5283)cGt>cAt		filaggrin							210	215	213					1																	152282080		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282080C>T	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.5282G>A	1.37:g.152282080C>T	ENSP00000357789:p.Arg1761His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1761H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1761			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5282G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.875	1.200049	0.22121	.	.	ENSG00000143631	ENST00000368799	T	0.01323	5.01	2.94	-5.62	0.02481	.	.	.	.	.	T	0.00998	0.0033	L	0.43152	1.355	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.38286	-0.9668	9	0.37606	T	0.19	-0.028	0.9234	0.01320	0.1662:0.2479:0.3368:0.2491	.	1761	P20930	FILA_HUMAN	H	1761	ENSP00000357789:R1761H	ENSP00000357789:R1761H	R	-	2	0	FLG	150548704	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.397000	0.07269	-1.216000	0.02607	-0.384000	0.06662	CGT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		36	394	0	0	0	1	0	36	394					T	152282080	C	T	152282080	3	4	324	1	0	0	0	0	1	0	0	0	5922	536	19	1	6907	1	FLG	1	152282080	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	57801961	152282080	96968541	2	32328											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	6	20	0	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				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)	p.T597P(1)		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						ACCCACCACCACCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T597P(1)	prostate(1)	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						c.(1789-1791)Acc>Ccc		proteoglycan 4							87	83	85					1																	186276640		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276640A>C	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.1789A>C	1.37:g.186276640A>C	ENSP00000399679:p.Thr597Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367484.3_Intron	p.T597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1834	+			597			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1789A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	1.907	-0.451678	0.04572	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04360	3.64;3.75;3.64;3.73	2.4	-2.78	0.05859	.	0.762931	0.10621	N	0.653340	T	0.01189	0.0039	N	0.00465	-1.465	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47736	-0.9094	9	.	.	.	.	7.4224	0.27079	0.6922:0.2055:0.0:0.1023	.	463;504;597;556	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	554;463;556;504;597	ENSP00000356456:T554P;ENSP00000356453:T556P;ENSP00000356455:T504P;ENSP00000399679:T597P	.	T	+	1	0	PRG4	184543263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-1.097000	0.03042	-4.201000	0.00009	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	146	0	0	0	1	0	8	146					C	186276640	A	C	186276640	3	2	324	1	0	0	0	0	1	0	0	0	12481	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	33994560	186276640	62973981	3	32329											
OR2M2	391194	broad.mit.edu	37	chr1	248343709	248343709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcatgaatcctaaaatttGtggacttatggctaccttct	6	9	2	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:248343709G>T	ENST00000359682.2	+	1	422	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	141						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)			CCTAAAATTTGTGGACTTATG	0.423																																						ENST00000359682.2																			0				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						c.(421-423)tGt>tTt		olfactory receptor, family 2, subfamily M, member 2							209	217	215					1																	248343709		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343709G>T	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.422G>T	1.37:g.248343709G>T	ENSP00000352710:p.Cys141Phe						p.C141F	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	422	+	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)		141					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.422G>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	11.29	1.595713	0.28445	.	.	ENSG00000198601	ENST00000359682	T	0.00220	8.52	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	U	0.004932	T	0.00845	0.0028	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13845	-1.0494	10	0.72032	D	0.01	.	11.6433	0.51246	0.0:0.0:1.0:0.0	.	141	Q96R28	OR2M2_HUMAN	F	141	ENSP00000352710:C141F	ENSP00000352710:C141F	C	+	2	0	OR2M2	246410332	0.319000	0.24607	0.004000	0.12327	0.008000	0.06430	2.067000	0.41461	1.056000	0.40484	0.454000	0.30748	TGT		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		12	283	1	0	2.27111e-07	1	2.52346e-07	12	283					T	248343709	G	T	248343709	3	4	324	1	0	0	0	0	1	0	0	0	11010	1377	48	4	424	4	OR2M2	1	248343709	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	62067069	248343709	906912	4	32330											
APOB	338	broad.mit.edu	37	chr2	21228468	21228468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaagtttgcacgatggaaCctgaagatctgtaaatggga	12	6	2	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:21228468C>A	ENST00000233242.1	-	26	11399	c.11272G>T	c.(11272-11274)Gtt>Ttt	p.V3758F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3758					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)					CACGATGGAACCTGAAGATCT	0.388																																						ENST00000233242.1																			0				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						c.(11272-11274)Gtt>Ttt		apolipoprotein B	Atorvastatin(DB01076)						108	115	112					2																	21228468		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228468C>A	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.11272G>T	2.37:g.21228468C>A	ENSP00000233242:p.Val3758Phe						p.V3758F	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	11399	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3758					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11272G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094887	0.56075	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01203	5.18	5.16	-0.198	0.13224	.	0.463064	0.17771	N	0.162599	T	0.00998	0.0033	L	0.38531	1.155	0.80722	D	1	P	0.43973	0.823	B	0.40165	0.321	T	0.69026	-0.5254	10	0.56958	D	0.05	.	2.1777	0.03866	0.1237:0.4774:0.1202:0.2787	.	3758	P04114	APOB_HUMAN	F	3758	ENSP00000233242:V3758F	ENSP00000233242:V3758F	V	-	1	0	APOB	21081973	0.001000	0.12720	0.721000	0.30653	0.949000	0.60115	-0.689000	0.05144	-0.056000	0.13221	0.655000	0.94253	GTT		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			28	138	1	0	2.4375e-19	1	2.90178e-19	28	138					A	21228468	C	A	21228468	3	1	324	1	0	0	0	0	1	0	0	0	785	507	18	4	2435	4	APOB	2	21228468	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		21228468	221970905	5	32331											
CGREF1	10669	broad.mit.edu	37	chr2	27325300	27325300	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggtagctctgcagaagtcTgtcagaaaagtggagaatca	12	6	4	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:27325300T>C	ENST00000260595.5	-	4	439		c.e4-2		CGREF1_ENST00000452318.2_Splice_Site|CGREF1_ENST00000312734.4_Splice_Site|CGREF1_ENST00000402394.1_Splice_Site|CGREF1_ENST00000404694.3_Splice_Site|CGREF1_ENST00000405600.1_Splice_Site|CGREF1_ENST00000402550.1_Splice_Site			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGAAGTCTGTCAGAAAAG	0.617																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.e4-2		cell growth regulator with EF-hand domain 1							55	62	59					2																	27325300		2203	4300	6503	SO:0001630	splice_region_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27325300T>C	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.147-2A>G	2.37:g.27325300T>C						CGREF1_ENST00000405600.1_Splice_Site|CGREF1_ENST00000260595.5_Splice_Site|CGREF1_ENST00000402550.1_Splice_Site|CGREF1_ENST00000312734.4_Splice_Site|CGREF1_ENST00000452318.2_Splice_Site|CGREF1_ENST00000404694.3_Splice_Site		NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			4	415	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Splice_Site	SNP	ENST00000260595.5	37			.	.	.	.	.	.	.	.	.	.	T	20.3	3.971537	0.74246	.	.	ENSG00000138028	ENST00000402550;ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3091	0.54918	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CGREF1	27178804	0.999000	0.42202	0.114000	0.21550	0.754000	0.42855	4.188000	0.58351	2.170000	0.68504	0.445000	0.29226	.		0.617	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569	Intron	4	55	0	0	0	1	0	4	55					C	27325300	T	C	27325300	5	2	324	1	0	0	0	0	0	0	1	0	3305	1594	55	3	1015	3	CGREF1	2	27325300	Splice_Site	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	6096832	27325300	215874073	6	32332											
TTN	7273	broad.mit.edu	37	chr2	179430063	179430063	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcaaaacagttgaggtAgctgtttcttcaacgtttac	9	7	2	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:179430063A>T	ENST00000591111.1	-	276	76097	c.75873T>A	c.(75871-75873)gcT>gcA	p.A25291A	TTN_ENST00000589042.1_Silent_p.A26932A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.A24364A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.A18059A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.A17992A|TTN_ENST00000460472.2_Silent_p.A17867A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25291	Ig-like 124.				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)			CAGTTGAGGTAGCTGTTTCTT	0.398																																						ENST00000589042.1																			0				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						c.(80794-80796)gcT>gcA		titin							164	154	157					2																	179430063		1860	4103	5963	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430063A>T	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.75873T>A	2.37:g.179430063A>T						TTN_ENST00000359218.5_Silent_p.A17992A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.A17867A|TTN_ENST00000591111.1_Silent_p.A25291A|TTN_ENST00000342175.6_Silent_p.A18059A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.A24364A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.A26932A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81020	-			25291			Fibronectin type-III 96.		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	ENST00000591111.1	37	c.80796T>A																																																																																					0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	127	0	0	0	1	0	4	127					T	179430063	A	T	179430063	2	4	324	1	0	0	0	0	0	0	0	1	16732	407	15	5		5	TTN	2	179430063	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	152104763	179430063	63769310	7	32333											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	40	0	0	0	1	0	5	40					T	209113112	C	T	209113112	3	4	324	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	29683049	209113112	34086261	8	32334											
POLN	353497	broad.mit.edu	37	chr4	2073954	2073954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacatgggcctggcggagGgccccaggcctcctgcagtg	17	14	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2073954G>A	ENST00000511885.2	-	26	2943	c.2590C>T	c.(2590-2592)Cct>Tct	p.P864S	POLN_ENST00000382865.1_Missense_Mutation_p.P864S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	864					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTGGCGGAGGGCCCCAGGCC	0.692								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(2590-2592)Cct>Tct	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							26	33	30					4																	2073954		2201	4298	6499	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2073954G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2590C>T	4.37:g.2073954G>A	ENSP00000435506:p.Pro864Ser					POLN_ENST00000382865.1_Missense_Mutation_p.P864S	p.P864S			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		26	2943	-			864					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.2590C>T	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.175|9.175	1.022231|1.022231	0.19433|0.19433	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000253313|ENST00000511885;ENST00000382865	.|T;T	.|0.08193	.|3.12;3.12	4.15|4.15	0.00676|0.00676	0.14068|0.14068	.|.	.|1.548280	.|0.03820	.|N	.|0.267314	.|T	.|0.04815	.|0.0130	N|N	0.14661|0.14661	0.345|0.345	0.22888|0.22888	N|N	0.998608|0.998608	.|B	.|0.33694	.|0.421	.|B	.|0.27608	.|0.081	.|T	.|0.33214	.|-0.9877	.|10	.|0.39692	.|T	.|0.17	.|-5.4443	4.1025|4.1025	0.10020|0.10020	0.3124:0.1732:0.5144:0.0|0.3124:0.1732:0.5144:0.0	.|.	.|864	.|Q7Z5Q5	.|DPOLN_HUMAN	.|S	-1|864	.|ENSP00000435506:P864S;ENSP00000372316:P864S	.|ENSP00000372316:P864S	.|P	-|-	.|1	.|0	POLN|POLN	2043752|2043752	0.009000|0.009000	0.17119|0.17119	0.105000|0.105000	0.21289|0.21289	0.284000|0.284000	0.27059|0.27059	0.125000|0.125000	0.15749|0.15749	0.055000|0.055000	0.16094|0.16094	0.561000|0.561000	0.74099|0.74099	.|CCT		0.692	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		8	64	0	0	0	1	0	8	64					A	2073954	G	A	2073954	3	1	324	1	0	0	0	0	1	0	0	0	12207	1232	43	2	116	2	POLN	4	2073954	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		2073954	189080322	9	32335											
SH3BP2	6452	broad.mit.edu	37	chr4	2834097	2834097	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggagagccccaggaTggactctactgcatccggaa	13	14	1	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2834097T>A	ENST00000356331.5	+	11	1707	c.1446T>A	c.(1444-1446)gaT>gaA	p.D482E	SH3BP2_ENST00000435136.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000503393.2_Missense_Mutation_p.D539E|SH3BP2_ENST00000452765.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000442312.2_Missense_Mutation_p.D510E|SH3BP2_ENST00000511747.1_Missense_Mutation_p.D482E	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	482	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGCCCCAGGATGGACTCTACT	0.592									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(1528-1530)gaT>gaA		SH3-domain binding protein 2							87	102	97					4																	2834097		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2834097T>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	10825	protein-coding gene	gene with protein product		602104	"Cherubism"			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1446T>A	4.37:g.2834097T>A	ENSP00000348685:p.Asp482Glu					SH3BP2_ENST00000452765.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000356331.5_Missense_Mutation_p.D482E|SH3BP2_ENST00000435136.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000511747.1_Missense_Mutation_p.D482E|SH3BP2_ENST00000503393.2_Missense_Mutation_p.D539E	p.D510E	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	11	1709	+			482			SH2.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.1530T>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032757	0.75504	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	5.28	-5.39	0.02664	SH2 motif (4);	0.229899	0.44285	D	0.000470	D	0.85199	0.5642	L	0.29908	0.895	0.80722	D	1	P;B;P;P	0.43352	0.804;0.379;0.707;0.737	P;P;B;P	0.51806	0.68;0.478;0.441;0.599	T	0.82281	-0.0535	10	0.66056	D	0.02	-14.7935	13.3228	0.60442	0.0:0.5303:0.0:0.4697	.	510;457;539;482	B4DT04;Q6ZVU3;D6R919;P78314	.;.;.;3BP2_HUMAN	E	482;510;482;482;539;482	ENSP00000409746:D482E;ENSP00000388152:D510E;ENSP00000403231:D482E;ENSP00000424846:D482E;ENSP00000422168:D539E;ENSP00000348685:D482E	ENSP00000348685:D482E	D	+	3	2	SH3BP2	2803895	0.179000	0.23135	0.800000	0.32199	0.958000	0.62258	-0.976000	0.03786	-0.999000	0.03442	-0.290000	0.09829	GAT		0.592	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		7	178	0	0	0	1	0	7	178					A	2834097	T	A	2834097	3	1	324	1	0	0	0	0	1	0	0	0	14245	1461	51	5	1743	5	SH3BP2	4	2834097	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	760143	2834097	188320179	10	32336											
FBXW7	55294	broad.mit.edu	37	chr4	153244137	153244137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaggctctgatccGccacacaactcccccactcc	7	17	1	2	rs140856583		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:153244137G>A	ENST00000281708.4	-	12	3249	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	FBXW7_ENST00000263981.5_Missense_Mutation_p.R594W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R674W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R498W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R556W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R674W|RP11-461L13.3_ENST00000603766.1_lincRNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	674					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)				GCTCTGATCCGCCACACAACT	0.493			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(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						c.(2020-2022)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							185	182	183					4																	153244137		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244137G>A	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.2020C>T	4.37:g.153244137G>A	ENSP00000281708:p.Arg674Trp					FBXW7_ENST00000603548.1_Missense_Mutation_p.R674W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R674W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R498W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R594W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R556W	p.R674W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3249	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	674					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2020C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503364	0.44558	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	1.62	0.23740	WD40/YVTN repeat-like-containing domain (1);	0.052018	0.85682	D	0.000000	T	0.48409	0.1498	M	0.82923	2.615	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;0.999;0.999	T	0.57625	-0.7779	10	0.87932	D	0	-14.6631	15.1372	0.72576	0.0:0.0:0.3907:0.6093	.	498;674;556;594	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	674;556;594;498	ENSP00000281708:R674W;ENSP00000296555:R556W;ENSP00000263981:R594W;ENSP00000377528:R498W	ENSP00000263981:R594W	R	-	1	2	FBXW7	153463587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.216000	0.51176	0.274000	0.22072	0.655000	0.94253	CGG		0.493	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			49	109	0	0	0	1	0	49	109					A	153244137	G	A	153244137	3	1	324	1	0	0	0	0	1	0	0	0	5769	1086	38	1	107	1	FBXW7	4	153244137	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	150410040	153244137	37910139	11	32337											
TBP	6908	broad.mit.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcaacagcagcagcagca					rs71815788|rs55736770	byFrequency	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	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.Q72del(3)		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)		agcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)caA>caG		TATA box binding protein							12	14	13					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871040A>G	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.216A>G	6.37:g.170871040A>G						TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	72			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.216A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	95	0	0	0	1	0	5	95					G	170871040	A	G	170871040	2	3	324	1	0	0	0	0	0	0	0	1	15641	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		170871040	244027	12	32338	143	2									
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G													cagcagcagcagcaacagcaAcagcagcagcagcagcagca					rs369312237|rs62430309	byFrequency	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	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)			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)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16	21	19					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871046A>G	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.222A>G	6.37:g.170871046A>G						TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		6	90	0	0	0	1	0	6	90					G	170871046	A	G	170871046	2	3	324	1	0	0	0	0	0	0	0	1	15641	40	2	3		3	TBP	6	170871046	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	6	170871046	244021	13	32339	143	2									
PCLO	27445	broad.mit.edu	37	chr7	82583285	82583285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctactttttgttcgttcGgcctccaactcctttttatc	5	12	0	0	rs374838410		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:82583285G>A	ENST00000333891.9	-	5	7321	c.6984C>T	c.(6982-6984)gcC>gcT	p.A2328A	PCLO_ENST00000423517.2_Silent_p.A2328A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A2328A(2)|p.A2259A(1)		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						TTGTTCGTTCGGCCTCCAACT	0.413																																						ENST00000423517.2																			3	Substitution - coding silent(3)	p.A2328A(2)|p.A2259A(1)	lung(3)	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						c.(6982-6984)gcC>gcT		piccolo presynaptic cytomatrix protein		G	,	0,3702		0,0,1851	122	125	124		6984,6984	-3.7	0	7		124	1,8181		0,1,4090	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,1,5941	AA,AG,GG		0.0122,0.0,0.0084	,	2328/4936,2328/5143	82583285	1,11883	1851	4091	5942	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583285G>A	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.6984C>T	7.37:g.82583285G>A						PCLO_ENST00000333891.8_Silent_p.A2328A	p.A2328A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7321	-			2259			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.6984C>T	CCDS47630.1																																																																																				0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	135	0	0	0	1	0	22	135					A	82583285	G	A	82583285	2	1	324	1	0	0	0	0	0	0	0	1	11583	1103	39	1		1	PCLO	7	82583285	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		82583285	76555378	14	32340											
EPHB4	2050	broad.mit.edu	37	chr7	100421497	100421497	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacgctgcacgtcacaCacttcgtaggtgcgcacgct	13	14	1	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:100421497C>A	ENST00000358173.3	-	3	648	c.180G>T	c.(178-180)gtG>gtT	p.V60V	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Silent_p.V60V|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	60	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)					GCACGTCACACACTTCGTAGG	0.682																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(178-180)gtG>gtT		EPH receptor B4							34	29	30					7																	100421497		2201	4298	6499	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421497C>A	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.180G>T	7.37:g.100421497C>A						EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.V60V	p.V60V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	648	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		60					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.180G>T	CCDS5706.1																																																																																				0.682	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		10	34	1	0	2.17888e-05	1	2.31795e-05	10	34					A	100421497	C	A	100421497	2	1	324	1	0	0	0	0	0	0	0	1	5177	465	17	4		4	EPHB4	7	100421497	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	17838212	100421497	58717166	15	32341											
PI15	51050	broad.mit.edu	37	chr8	75756325	75756325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaaaatctatctgtacGcactggaaggtaggaagtaa	12	7	2	0	rs200713288		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:75756325G>A	ENST00000260113.2	+	3	562	c.383G>A	c.(382-384)cGc>cAc	p.R128H	PI15_ENST00000523773.1_Missense_Mutation_p.R128H|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	128	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.R128H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408																																						ENST00000260113.2																			1	Substitution - Missense(1)	p.R128H(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(382-384)cGc>cAc		peptidase inhibitor 15							164	162	163					8																	75756325		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75756325G>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.383G>A	8.37:g.75756325G>A	ENSP00000260113:p.Arg128His					RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128H	p.R128H	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		3	562	+	Breast(64;0.137)		128					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.383G>A	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	7.771	0.707509	0.15239	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.07688	3.17;3.17	4.97	4.97	0.65823	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.04543	0.0124	N	0.02368	-0.58	0.58432	D	0.999995	B	0.19200	0.034	B	0.12837	0.008	T	0.51560	-0.8690	10	0.28530	T	0.3	.	18.7851	0.91951	0.0:0.0:1.0:0.0	.	128	O43692	PI15_HUMAN	H	128	ENSP00000260113:R128H;ENSP00000428567:R128H	ENSP00000260113:R128H	R	+	2	0	PI15	75918880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.875000	0.63072	2.736000	0.93811	0.591000	0.81541	CGC		0.408	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		14	149	0	0	0	1	0	14	149					A	75756325	G	A	75756325	3	1	324	1	0	0	0	0	1	0	0	0	11868	1087	38	1	389	1	PI15	8	75756325	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		75756325	70607697	16	32342											
KCNQ3	3786	broad.mit.edu	37	chr8	133192522	133192522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaggtggccagaacaTtgccttggtttcccacagca	13	11	0	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:133192522T>C	ENST00000388996.4	-	4	1079	c.659A>G	c.(658-660)aAt>aGt	p.N220S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.N100S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.N220S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	220					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCCAGAACATTGCCTTGGTT	0.597																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(658-660)aAt>aGt		potassium voltage-gated channel, KQT-like subfamily, member 3							107	93	98					8																	133192522		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133192522T>C	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.659A>G	8.37:g.133192522T>C	ENSP00000373648:p.Asn220Ser					KCNQ3_ENST00000521134.1_Missense_Mutation_p.N100S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.N220S	p.N220S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		4	1079	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		220					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.659A>G	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.551973	0.65311	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98329	-4.87;-4.87;-4.87	5.52	5.52	0.82312	Ion transport (1);	0.201549	0.48767	D	0.000174	D	0.98381	0.9462	L	0.50333	1.59	0.47037	D	0.99929	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.99851	1.1071	10	0.87932	D	0	-11.2588	14.8078	0.69971	0.0:0.0:0.0:1.0	.	220;220	E7ET42;O43525	.;KCNQ3_HUMAN	S	220;100;220;209;99	ENSP00000373648:N220S;ENSP00000429799:N100S;ENSP00000428790:N220S	ENSP00000373648:N220S	N	-	2	0	KCNQ3	133261704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.948000	0.87774	2.109000	0.64355	0.459000	0.35465	AAT		0.597	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		11	123	0	0	0	1	0	11	123					C	133192522	T	C	133192522	3	2	324	1	0	0	0	0	1	0	0	0	8084	1493	52	3	2007	3	KCNQ3	8	133192522	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	57436197	133192522	13171500	17	32343											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18829917	18829917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgaaccttccttcagtGctgacgtctcctctgggaac	10	14	3	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr9:18829917G>A	ENST00000380548.4	+	23	4530	c.4191G>A	c.(4189-4191)gtG>gtA	p.V1397V	ADAMTSL1_ENST00000380545.5_Silent_p.V98V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1397	Ig-like C2-type 4.					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)		TTCCTTCAGTGCTGACGTCTC	0.572																																						ENST00000380548.4																			0				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						c.(4189-4191)gtG>gtA		ADAMTS-like 1							83	85	84					9																	18829917		2076	4212	6288	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829917G>A	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.4191G>A	9.37:g.18829917G>A						ADAMTSL1_ENST00000380545.5_Silent_p.V98V	p.V1397V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4530	+			1397			Ig-like C2-type 4.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.4191G>A	CCDS47954.1																																																																																				0.572	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			6	46	0	0	0	1	0	6	46					A	18829917	G	A	18829917	2	1	324	1	0	0	0	0	0	0	0	1	274	1306	46	2		2	ADAMTSL1	9	18829917	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		18829917	122383514	18	32344											
LRIT2	340745	broad.mit.edu	37	chr10	85984831	85984832	+	Frame_Shift_Ins	INS	-	-	G													actcttcagaaaggttcccaINSgggatctttcccaaggagac							TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr10:85984831_85984832insG	ENST00000372113.4	-	2	154_155	c.149_150insC	c.(148-150)cctfs	p.P50fs	LRIT2_ENST00000538192.1_Frame_Shift_Ins_p.P50fs	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	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						AAAGGTTCCCAGGGATCTTTCC	0.455																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(148-150)cggfs		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2																																				SO:0001589	frameshift_variant	340745					integral to membrane		g.chr10:85984831_85984832insG		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.150dupC	10.37:g.85984834_85984834dupG	ENSP00000361185:p.Pro50fs					LRIT2_ENST00000538192.1_Frame_Shift_Ins_p.R50fs	p.R50fs	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	154_155	-			50			LRRNT.		B7ZME6	Frame_Shift_Ins	INS	ENST00000372113.4	37	c.149_150insC	CCDS31234.1																																																																																				0.455	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		18	76						18	76	---	---	---	---	G	85984832	-	G	85984831	7	5	324	1	0	1	1	0	0	0	0	0	8948	175	7	0	1510	0	LRIT2	10	85984831	Frame_Shift_Ins	INS	-	TCGA-HT-A618-01A-11D-A29Q-08		85984831	49549916	19	32345											
OR4A15	81328	broad.mit.edu	37	chr11	55136013	55136013	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttattgaaacttgcttgcacCaatacctatgtcactgggct	7	10	1	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:55136013C>A	ENST00000314706.3	+	1	654	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	218						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(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGCTTGCACCAATACCTATG	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(652-654)acC>acA		olfactory receptor, family 4, subfamily A, member 15							126	116	119					11																	55136013		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136013C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.654C>A	11.37:g.55136013C>A							p.T218T	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	654	+			218					Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.654C>A	CCDS31500.1																																																																																				0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		4	84	1	0	1	1	1	4	84					A	55136013	C	A	55136013	2	1	324	1	0	0	0	0	0	0	0	1	11040	581	21	4		4	OR4A15	11	55136013	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		55136013	79870503	20	32346											
OR5M11	219487	broad.mit.edu	37	chr11	56310051	56310051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttccctctgctgatTtgatccggaggatggcagca	12	11	1	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:56310051T>C	ENST00000528616.2	-	1	706	c.683A>G	c.(682-684)aAa>aGa	p.K228R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	228						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(2)|large_intestine(1)|lung(14)	18						CTCTGCTGATTTGATCCGGAG	0.498																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(682-684)aAa>aGa		olfactory receptor, family 5, subfamily M, member 11							89	89	89					11																	56310051		2023	4203	6226	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310051T>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"GPCR / Class A : Olfactory receptors"	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.683A>G	11.37:g.56310051T>C	ENSP00000432417:p.Lys228Arg						p.K228R	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	706	-			228					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.683A>G	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	T	0.021	-1.423507	0.01126	.	.	ENSG00000255223	ENST00000528616	T	0.36699	1.24	4.85	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07683	0.0193	N	0.00652	-1.29	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38714	-0.9648	9	0.02654	T	1	.	0.848	0.01166	0.3003:0.1014:0.1699:0.4285	.	228	Q96RB7	OR5MB_HUMAN	R	228	ENSP00000432417:K228R	ENSP00000432417:K228R	K	-	2	0	OR5M11	56066627	0.000000	0.05858	0.983000	0.44433	0.620000	0.37586	-2.025000	0.01435	0.873000	0.35799	0.514000	0.50259	AAA		0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		28	62	0	0	0	1	0	28	62					C	56310051	T	C	56310051	3	2	324	1	0	0	0	0	1	0	0	0	11174	1841	64	3	237	3	OR5M11	11	56310051	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	1174038	56310051	78696465	21	32347											
APLNR	187	broad.mit.edu	37	chr11	57003704	57003704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtagggcatccagcacaGggcaaaggtcaccaccagca	13	12	1	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:57003704G>T	ENST00000606794.1	-	1	971	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	259					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						ATCCAGCACAGGGCAAAGGTC	0.612																																						ENST00000606794.1																			0				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						c.(775-777)Ctg>Atg		apelin receptor							88	64	72					11																	57003704		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003704G>T	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.775C>A	11.37:g.57003704G>T	ENSP00000475344:p.Leu259Met						p.L259M	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	971	-			259						Missense_Mutation	SNP	ENST00000606794.1	37	c.775C>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264590	0.40095	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.45668	0.89	5.46	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.484707	0.19090	N	0.123000	T	0.63010	0.2475	M	0.85099	2.735	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.56932	-0.7897	10	0.54805	T	0.06	-16.6022	7.5466	0.27770	0.1522:0.1386:0.7091:0.0	.	259	P35414	APJ_HUMAN	M	259;140;178	ENSP00000257254:L259M	ENSP00000257254:L259M	L	-	1	2	APLNR	56760280	0.000000	0.05858	0.951000	0.38953	0.992000	0.81027	-0.116000	0.10724	1.303000	0.44873	-0.136000	0.14681	CTG		0.612	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		7	66	1	0	2.0095e-06	1	2.18424e-06	7	66					T	57003704	G	T	57003704	3	4	324	1	0	0	0	0	1	0	0	0	777	991	35	4	371	4	APLNR	11	57003704	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	693653	57003704	78002812	22	32348											
SIPA1	6494	broad.mit.edu	37	chr11	65408860	65408860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaccaggctgccagctcGgacctgctgcatggggcacc	15	14	0	0	rs371357622		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:65408860G>A	ENST00000394224.3	+	2	764	c.468G>A	c.(466-468)tcG>tcA	p.S156S	SIPA1_ENST00000527525.1_Silent_p.S156S|SIPA1_ENST00000534313.1_Silent_p.S156S|SIPA1_ENST00000394227.3_Silent_p.S156S	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	156					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGCCAGCTCGGACCTGCTGC	0.667																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(466-468)tcG>tcA		signal-induced proliferation-associated 1							55	59	58					11																	65408860		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65408860G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.468G>A	11.37:g.65408860G>A						SIPA1_ENST00000534313.1_Silent_p.S156S|SIPA1_ENST00000394227.3_Silent_p.S156S|SIPA1_ENST00000527525.1_Silent_p.S156S	p.S156S	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			2	764	+			156					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.468G>A	CCDS8108.1																																																																																				0.667	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		33	83	0	0	0	1	0	33	83					A	65408860	G	A	65408860	2	1	324	1	0	0	0	0	0	0	0	1	14328	1103	39	1		1	SIPA1	11	65408860	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	8405156	65408860	69597656	23	32349											
USP44	84101	broad.mit.edu	37	chr12	95914959	95914959	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaccaatcttctctcGgttattacgtcctgaccacc	5	14	2	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr12:95914959G>A	ENST00000258499.3	-	5	2041	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	USP44_ENST00000393091.2_Nonsense_Mutation_p.R585*|USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Nonsense_Mutation_p.R585*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	585	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATCTTCTCTCGGTTATTACGT	0.423																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1753-1755)Cga>Tga		ubiquitin specific peptidase 44							152	139	143					12																	95914959		2203	4300	6503	SO:0001587	stop_gained	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95914959G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1753C>T	12.37:g.95914959G>A	ENSP00000258499:p.Arg585*					USP44_ENST00000393091.2_Nonsense_Mutation_p.R585*|USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Nonsense_Mutation_p.R585*	p.R585*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			5	2041	-			585					B2RDW3	Nonsense_Mutation	SNP	ENST00000258499.3	37	c.1753C>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235267	0.98719	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	.	.	.	5.49	2.31	0.28768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8906	0.46994	0.0674:0.0:0.6879:0.2447	.	.	.	.	X	585	.	ENSP00000258499:R585X	R	-	1	2	USP44	94439090	1.000000	0.71417	0.996000	0.52242	0.724000	0.41520	1.810000	0.38932	0.694000	0.31654	-0.467000	0.05162	CGA		0.423	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		18	55	0	0	0	1	0	18	55					A	95914959	G	A	95914959	4	1	324	1	0	0	0	0	0	1	0	0	17072	1124	39	1	393	1	USP44	12	95914959	Nonsense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		95914959	37936936	24	32350											
PCNX	22990	broad.mit.edu	37	chr14	71443880	71443880	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacactcacactcttatagaAaagaccaccggccgcgaggt	8	13	2	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr14:71443880A>T	ENST00000304743.2	+	6	1272	c.826A>T	c.(826-828)Aaa>Taa	p.K276*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.K276*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.K276*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	276						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)		CTCTTATAGAAAAGACCACCG	0.493																																						ENST00000304743.2																			0				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						c.(826-828)Aaa>Taa		pecanex homolog (Drosophila)							131	117	122					14																	71443880		2203	4300	6503	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71443880A>T	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.826A>T	14.37:g.71443880A>T	ENSP00000304192:p.Lys276*					PCNX_ENST00000238570.5_Nonsense_Mutation_p.K276*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.K276*	p.K276*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	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)	6	1272	+			276					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.826A>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	37	6.022063	0.97211	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7766	0.69736	1.0:0.0:0.0:0.0	.	.	.	.	X	276	.	ENSP00000238570:K276X	K	+	1	0	PCNX	70513633	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	8.730000	0.91510	2.231000	0.72958	0.533000	0.62120	AAA		0.493	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		19	55	0	0	0	1	0	19	55					T	71443880	A	T	71443880	4	4	324	1	0	0	0	0	0	1	0	0	11591	15	1	5	848	5	PCNX	14	71443880	Nonsense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		71443880	35905660	25	32351											
THSD4	79875	broad.mit.edu	37	chr15	72040864	72040864	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaacatgaagctccggccGaatgacattgagaactgcga	11	10	0	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:72040864G>A	ENST00000355327.3	+	14	2480	c.2346G>A	c.(2344-2346)ccG>ccA	p.P782P	THSD4_ENST00000261862.6_Silent_p.P782P|THSD4_ENST00000357769.4_Silent_p.P422P|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	782	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						AGCTCCGGCCGAATGACATTG	0.597																																						ENST00000355327.3																			0				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						c.(2344-2346)ccG>ccA		thrombospondin, type I, domain containing 4							130	148	142					15																	72040864		2154	4255	6409	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72040864G>A	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.2346G>A	15.37:g.72040864G>A						THSD4_ENST00000357769.4_Silent_p.P422P|THSD4_ENST00000261862.6_Silent_p.P782P|THSD4_ENST00000567838.1_3'UTR	p.P782P			Q6ZMP0	THSD4_HUMAN			14	2480	+			782			TSP type-1 3.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.2346G>A	CCDS10238.2																																																																																				0.597	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		12	49	0	0	0	1	0	12	49					A	72040864	G	A	72040864	2	1	324	1	0	0	0	0	0	0	0	1	15875	1045	37	1		1	THSD4	15	72040864	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		72040864	30490528	26	32352											
ARRDC4	91947	broad.mit.edu	37	chr15	98504133	98504133	+	Frame_Shift_Del	DEL	G	G	-													gcggcggccgtgggtgccgaGggccgcgtgaagagcctggg							TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:98504133delG	ENST00000268042.6	+	1	206	c.42delG	c.(40-42)gagfs	p.E14fs	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	14					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TGGGTGCCGAGGGCCGCGTGA	0.741																																						ENST00000268042.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16						c.(40-42)gafs		arrestin domain containing 4							10	8	9					15																	98504133		1903	3724	5627	SO:0001589	frameshift_variant	91947				signal transduction			g.chr15:98504133delG	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.42delG	15.37:g.98504133delG	ENSP00000268042:p.Glu14fs					ARRDC4_ENST00000538249.1_Intron	p.E14fs	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		1	206	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		14					Q6NSI9	Frame_Shift_Del	DEL	ENST00000268042.6	37	c.42delG	CCDS10377.1																																																																																				0.741	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		2	4						2	4	---	---	---	---	-	98504133	G	-	98504133	7	5	324	1	0	1	0	1	0	0	0	0	985	991	35	0	44	0	ARRDC4	15	98504133	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	26463269	98504133	4027259	27	32353											
CDH8	1006	broad.mit.edu	37	chr16	61891032	61891032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccacaaacctgtttcagGctcaatggaaaaataaggct	9	9	2	0	rs190954180		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:61891032G>A	ENST00000577390.1	-	4	1612	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDH8_ENST00000299345.6_Missense_Mutation_p.P220S|CDH8_ENST00000577730.1_Missense_Mutation_p.P220S|CDH8_ENST00000584337.1_Missense_Mutation_p.P220S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	220	Cadherin 2. {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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTGTTTCAGGCTCAATGGAA	0.393																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(658-660)Cct>Tct		cadherin 8, type 2							88	79	82					16																	61891032		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61891032G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.658C>T	16.37:g.61891032G>A	ENSP00000462701:p.Pro220Ser					CDH8_ENST00000584337.1_Missense_Mutation_p.P220S|CDH8_ENST00000577730.1_Missense_Mutation_p.P220S|CDH8_ENST00000299345.6_Missense_Mutation_p.P220S	p.P220S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	4	1612	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	220			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.658C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699106	0.48307	.	.	ENSG00000150394	ENST00000299345	T	0.53423	0.62	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.047832	0.85682	D	0.000000	T	0.43188	0.1236	L	0.35644	1.08	0.53688	D	0.999978	B	0.28801	0.223	B	0.28991	0.097	T	0.16276	-1.0408	10	0.28530	T	0.3	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	220	P55286	CADH8_HUMAN	S	220	ENSP00000299345:P220S	ENSP00000299345:P220S	P	-	1	0	CDH8	60448533	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.037000	0.64170	2.779000	0.95612	0.650000	0.86243	CCT		0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		28	45	0	0	0	1	0	28	45					A	61891032	G	A	61891032	3	1	324	1	0	0	0	0	1	0	0	0	3116	1203	42	2	1777	2	CDH8	16	61891032	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		61891032	28463721	28	32354											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	14	0	0	0	1	0	44	14					A	7577094	G	A	7577094	3	1	324	1	0	0	0	0	1	0	0	0	16378	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		7577094	73618116	29	32355											
ITGB4	3691	broad.mit.edu	37	chr17	73736512	73736512	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctgacactcgggagtgCgcccagctgcgccaggaggt	15	13	0	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:73736512C>T	ENST00000200181.3	+	21	2707	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	ITGB4_ENST00000449880.2_Silent_p.C840C|ITGB4_ENST00000579662.1_Silent_p.C840C|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.C840C|ITGB4_ENST00000339591.3_Silent_p.C840C	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	840					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)			CTCGGGAGTGCGCCCAGCTGC	0.662																																						ENST00000200181.3																			0				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						c.(2518-2520)tgC>tgT		integrin, beta 4							51	48	49					17																	73736512		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73736512C>T		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.2520C>T	17.37:g.73736512C>T						ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.C840C|ITGB4_ENST00000450894.3_Silent_p.C840C|ITGB4_ENST00000449880.2_Silent_p.C840C|ITGB4_ENST00000339591.3_Silent_p.C840C	p.C840C	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	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)		21	2707	+	all_cancers(13;1.5e-07)		840					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.2520C>T	CCDS11727.1																																																																																				0.662	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	66	0	0	0	1	0	4	66					T	73736512	C	T	73736512	2	4	324	1	0	0	0	0	0	0	0	1	7897	776	27	1		1	ITGB4	17	73736512	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	66159418	73736512	7458698	30	32356											
TNRC6C	57690	broad.mit.edu	37	chr17	76047335	76047335	+	Frame_Shift_Del	DEL	G	G	-													tgatgatggtacctcagcttGgggggacccaagcaactata							TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:76047335delG	ENST00000588061.1	+	5	2919	c.2192delG	c.(2191-2193)tggfs	p.W731fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.W731fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	731	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|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)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCAGCTTGGGGGGACCCA	0.507																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(2191-2193)tgfs		trinucleotide repeat containing 6C							26	27	27					17																	76047335		1931	4108	6039	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76047335delG	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2192delG	17.37:g.76047335delG	ENSP00000468647:p.Trp731fs					TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.W731fs	p.W731fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2761	+			731			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.2192delG	CCDS45798.1																																																																																				0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		2	4						2	4	---	---	---	---	-	76047335	G	-	76047335	7	5	324	1	0	1	0	1	0	0	0	0	16339	1357	47	0	2194	0	TNRC6C	17	76047335	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	2310823	76047335	5147875	31	32357											
RFX2	5990	broad.mit.edu	37	chr19	6013017	6013017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcttctggtgcatgggCtgctgccgcatggccatgta	15	11	1	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr19:6013017C>T	ENST00000303657.5	-	8	1028	c.879G>A	c.(877-879)caG>caA	p.Q293Q	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.Q293Q|RFX2_ENST00000592546.1_Silent_p.Q268Q	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTGCATGGGCTGCTGCCGCA	0.612																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(877-879)caG>caA		regulatory factor X, 2 (influences HLA class II expression)							91	93	92					19																	6013017		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6013017C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.879G>A	19.37:g.6013017C>T						RFX2_ENST00000592546.1_Silent_p.Q268Q|RFX2_ENST00000359161.3_Silent_p.Q293Q|CTC-232P5.1_ENST00000587836.1_RNA	p.Q293Q	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			8	1028	-			293					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.879G>A	CCDS12157.1																																																																																				0.612	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		34	160	0	0	0	1	0	34	160					T	6013017	C	T	6013017	2	4	324	1	0	0	0	0	0	0	0	1	13263	796	28	2		2	RFX2	19	6013017	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		6013017	53115966	32	32358											
CDH4	1002	broad.mit.edu	37	chr20	60503304	60503304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctatctcattgacatcaacGacaacgcccctgagctgctg	7	14	3	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr20:60503304G>A	ENST00000360469.5	+	12	1916	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	CDH4_ENST00000543233.1_Missense_Mutation_p.D536N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	610	Cadherin 4. {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)			TGACATCAACGACAACGCCCC	0.622																																						ENST00000360469.5																			0				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						c.(1828-1830)Gac>Aac		cadherin 4, type 1, R-cadherin (retinal)							132	142	139					20																	60503304		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503304G>A	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.1828G>A	20.37:g.60503304G>A	ENSP00000353656:p.Asp610Asn					CDH4_ENST00000543233.1_Missense_Mutation_p.D536N	p.D610N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	1916	+			610			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1828G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557969	0.86231	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.67698	-0.28;-0.28	4.7	4.7	0.59300	Cadherin (4);Cadherin conserved site (1);Cadherin-like (2);	0.000000	0.85682	D	0.000000	D	0.88028	0.6327	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92589	0.6081	9	.	.	.	.	17.6111	0.88053	0.0:0.0:1.0:0.0	.	610	P55283	CADH4_HUMAN	N	610;518;536	ENSP00000353656:D610N;ENSP00000443301:D536N	.	D	+	1	0	CDH4	59936699	1.000000	0.71417	0.999000	0.59377	0.471000	0.32888	9.503000	0.97984	2.132000	0.65825	0.563000	0.77884	GAC		0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	286	0	0	0	1	0	10	286					A	60503304	G	A	60503304	3	1	324	1	0	0	0	0	1	0	0	0	3112	1058	37	1	1874	1	CDH4	20	60503304	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		60503304	2522216	33	32359											
ATRX	546	broad.mit.edu	37	chrX	76939387	76939387	+	Frame_Shift_Del	DEL	T	T	-													ctgactttgaaatatccttcTtttccaaagcacaaggtttt							TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chrX:76939387delT	ENST00000373344.5	-	9	1575	c.1361delA	c.(1360-1362)aagfs	p.K455fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K417fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	455					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						AATATCCTTCTTTTCCAAAGC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1360-1362)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						159	154	155					X																	76939387		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939387delT	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.1361delA	X.37:g.76939387delT	ENSP00000362441:p.Lys455fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K417fs|ATRX_ENST00000480283.1_5'UTR	p.K455fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1575	-			455					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1361delA	CCDS14434.1																																																																																				0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		97	98						97	98	---	---	---	---	-	76939387	T	-	76939387	7	5	324	1	0	1	0	1	0	0	0	0	1208	1609	56	0	6225	0	ATRX	23	76939387	Frame_Shift_Del	DEL	T	TCGA-HT-A618-01A-11D-A29Q-08		76939387	78331173	34	32360											
ST3GAL3	6487	broad.mit.edu	37	chr1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtcaccaaagagtacCgcctgacccctgccttggac	9	15	2	2	rs200149990		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	ENST00000361392.4	+	7	616	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R216C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C	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	147					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)				CAAAGAGTACCGCCTGACCCC	0.537																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(646-648)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							118	101	107					1																	44363948		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44363948C>T	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.439C>T	1.37:g.44363948C>T	ENSP00000355341:p.Arg147Cys					ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C	p.R216C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			8	823	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	147					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	ENST00000361392.4	37	c.646C>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126544	0.77549	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.57	4.57	0.56435	.	0.116434	0.64402	D	0.000012	T	0.48003	0.1476	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.994;0.996;0.999;0.995;0.996;0.999;0.997;0.989;0.999;0.997;0.999;0.995;0.999;0.997	P;P;P;D;P;P;P;P;P;P;P;P;P;P	0.71870	0.799;0.784;0.862;0.975;0.784;0.854;0.707;0.827;0.886;0.707;0.827;0.806;0.827;0.901	T	0.48514	-0.9029	10	0.56958	D	0.05	.	17.3035	0.87188	0.0:1.0:0.0:0.0	.	147;100;131;146;131;146;116;147;185;131;201;147;216;162	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	147;131;216;201;185;116;147;131;162;147;216;146;146;147;201;185;131;131;147;116	ENSP00000355341:R147C;ENSP00000354748:R131C;ENSP00000262915:R216C;ENSP00000361450:R201C;ENSP00000316999:R185C;ENSP00000361449:R116C;ENSP00000330463:R147C;ENSP00000335633:R131C;ENSP00000317192:R162C;ENSP00000361444:R147C;ENSP00000354657:R216C;ENSP00000361442:R146C;ENSP00000361441:R146C;ENSP00000361440:R147C;ENSP00000361443:R201C;ENSP00000361447:R185C;ENSP00000434876:R131C;ENSP00000432682:R131C;ENSP00000432965:R147C;ENSP00000329755:R116C	ENSP00000262915:R216C	R	+	1	0	ST3GAL3	44136535	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.139000	0.42149	2.260000	0.74910	0.655000	0.94253	CGC		0.537	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		48	12	0	0	0	1	0	48	12					T	44363948	C	T	44363948	3	4	325	1	0	0	0	0	1	0	0	0	15215	652	23	1	672	1	ST3GAL3	1	44363948	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		44363948	204886673	1	32361											
CFHR3	10878	broad.mit.edu	37	chr1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattttccagacattaaacAtggaggtctatttcatgaga	8	6	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	ENST00000367425.4	+	2	181	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P|CFHR3_ENST00000471440.2_Missense_Mutation_p.H30P	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	30	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						GACATTAAACATGGAGGTCTA	0.289																																						ENST00000471440.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(88-90)cAt>cCt		complement factor H-related 3							51	57	55					1																	196748322		1904	4124	6028	SO:0001583	missense	10878							g.chr1:196748322A>C	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.89A>C	1.37:g.196748322A>C	ENSP00000356395:p.His30Pro					CFHR3_ENST00000367425.4_Missense_Mutation_p.H30P|CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P	p.H30P							2	163	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.89A>C	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.919149	0.33908	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.67523	-0.27;-0.27;-0.27	2.31	2.31	0.28768	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.80319	0.4601	M	0.85945	2.785	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.951	T	0.65668	-0.6112	9	0.72032	D	0.01	.	6.6031	0.22710	1.0:0.0:0.0:0.0	.	30;30;30	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	P	30	ENSP00000356395:H30P;ENSP00000436258:H30P;ENSP00000375845:H30P	ENSP00000356395:H30P	H	+	2	0	CFHR3	195014945	0.992000	0.36948	0.331000	0.25455	0.022000	0.10575	2.819000	0.48049	1.334000	0.45468	0.155000	0.16302	CAT		0.289	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		18	35	0	0	0	1	0	18	35					C	196748322	A	C	196748322	3	2	325	1	0	0	0	0	1	0	0	0	3286	217	8	5	95	5	CFHR3	1	196748322	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	152384374	196748322	52502299	2	32362											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgattgagaagaagcGtctgaacagaatgaagaagg	14	5	1	7			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	ENST00000326019.6	+	6	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	482						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)					GAGAAGAAGCGTCTGAACAGA	0.398																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1444-1446)cGt>cAt		solute carrier family 4 (anion exchanger), member 1, adaptor protein							99	102	101					2																	27898498		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27898498G>A		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.1445G>A	2.37:g.27898498G>A	ENSP00000323837:p.Arg482His						p.R482H	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			6	1727	+	Acute lymphoblastic leukemia(172;0.155)		482					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1445G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286038	0.95517	.	.	ENSG00000163798	ENST00000326019	T	0.42131	0.98	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.68952	2.095	0.80722	D	1	D	0.56521	0.976	P	0.53224	0.721	T	0.62282	-0.6887	10	0.87932	D	0	-9.1232	19.0781	0.93171	0.0:0.0:1.0:0.0	.	482	Q9BWU0	NADAP_HUMAN	H	482	ENSP00000323837:R482H	ENSP00000323837:R482H	R	+	2	0	SLC4A1AP	27752002	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.148000	0.94652	2.522000	0.85027	0.555000	0.69702	CGT		0.398	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		52	63	0	0	0	1	0	52	63					A	27898498	G	A	27898498	3	1	325	1	0	0	0	0	1	0	0	0	14653	1145	40	1	1467	1	SLC4A1AP	2	27898498	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		27898498	215300875	3	32363											
HEATR5B	54497	broad.mit.edu	37	chr2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaagagccaatgaatgaCcagtcctagatacaacatct	6	11	1	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	ENST00000233099.5	-	19	2827	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	911						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)				CAATGAATGACCAGTCCTAGA	0.388																																						ENST00000233099.5																			0				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						c.(2731-2733)gGt>gAt		HEAT repeat containing 5B							165	143	151					2																	37268400		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37268400C>T	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.2732G>A	2.37:g.37268400C>T	ENSP00000233099:p.Gly911Asp					HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			19	2827	-		all_hematologic(82;0.21)	911					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2732G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237290	0.95240	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.05447	3.44;3.44	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33343	-0.9872	10	0.72032	D	0.01	-17.0715	19.3907	0.94581	0.0:1.0:0.0:0.0	.	911	Q9P2D3	HTR5B_HUMAN	D	911	ENSP00000233099:G911D;ENSP00000346531:G911D	ENSP00000233099:G911D	G	-	2	0	HEATR5B	37121904	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	7.729000	0.84864	2.569000	0.86673	0.655000	0.94253	GGT		0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		24	71	0	0	0	1	0	24	71					T	37268400	C	T	37268400	3	4	325	1	0	0	0	0	1	0	0	0	7032	507	18	2	3555	2	HEATR5B	2	37268400	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	9369902	37268400	205930973	4	32364											
REG1B	5968	broad.mit.edu	37	chr2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggatccagtgtcccAggacttgtaggagaccaggg	16	10	0	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	ENST00000305089.3	-	5	450	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542																																						ENST00000305089.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						c.(370-372)Tgg>Cgg		regenerating islet-derived 1 beta							94	85	88					2																	79312681		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312681A>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"lithostathine 1 beta", "secretory pancreatic stone protein 2"	167771	"regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.370T>C	2.37:g.79312681A>G	ENSP00000303206:p.Trp124Arg						p.W124R	NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN			5	450	-			124			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.370T>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	a	18.24	3.579685	0.65992	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.14266	2.52;2.52	3.59	2.38	0.29361	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.211136	0.24204	N	0.040591	T	0.45637	0.1352	H	0.99238	4.48	0.35630	D	0.81014	P	0.51933	0.949	P	0.57548	0.823	T	0.59478	-0.7447	10	0.87932	D	0	.	6.0382	0.19720	0.7706:0.0:0.0:0.2294	.	124	P48304	REG1B_HUMAN	R	75;124	ENSP00000387410:W75R;ENSP00000303206:W124R	ENSP00000303206:W124R	W	-	1	0	REG1B	79166189	0.995000	0.38212	0.756000	0.31282	0.541000	0.35023	3.149000	0.50655	0.520000	0.28426	0.402000	0.26972	TGG		0.542	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		28	55	0	0	0	1	0	28	55					G	79312681	A	G	79312681	3	3	325	1	0	0	0	0	1	0	0	0	13211	188	7	3	138	3	REG1B	2	79312681	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42044281	79312681	163886692	5	32365											
CNNM4	26504	broad.mit.edu	37	chr2	97427110	97427110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctggtcaacgtgagccGcgggaacacgtccggcgtgc	16	13	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:97427110G>A	ENST00000377075.2	+	1	472	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	125					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						AACGTGAGCCGCGGGAACACG	0.652																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(373-375)cGc>cAc		cyclin M4							57	56	56					2																	97427110		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427110G>A	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.374G>A	2.37:g.97427110G>A	ENSP00000366275:p.Arg125His						p.R125H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	472	+			125					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.374G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	18.97	3.735997	0.69189	.	.	ENSG00000158158	ENST00000377075	T	0.74421	-0.84	4.72	4.72	0.59763	.	0.768931	0.11569	U	0.550942	T	0.69486	0.3116	M	0.65498	2.005	0.80722	D	1	B	0.20459	0.045	B	0.10450	0.005	T	0.66654	-0.5869	10	0.39692	T	0.17	-24.2938	6.1934	0.20536	0.095:0.0:0.7184:0.1866	.	125	Q6P4Q7	CNNM4_HUMAN	H	125	ENSP00000366275:R125H	ENSP00000366275:R125H	R	+	2	0	CNNM4	96790837	0.810000	0.29049	1.000000	0.80357	0.990000	0.78478	1.432000	0.34936	2.189000	0.69895	0.550000	0.68814	CGC		0.652	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		4	149	0	0	0	1	0	4	149					A	97427110	G	A	97427110	3	1	325	1	0	0	0	0	1	0	0	0	3615	1087	38	1	376	1	CNNM4	2	97427110	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	18114429	97427110	145772263	6	32366											
RGPD4	285190	broad.mit.edu	37	chr2	108487540	108487540	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagaaagatgatgatgCctataagactgaggacagcg	12	6	0	6			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:108487540C>G	ENST00000408999.3	+	20	3157	c.3080C>G	c.(3079-3081)gCc>gGc	p.A1027G	RGPD4_ENST00000354986.4_Missense_Mutation_p.A1027G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1027					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGATGATGCCTATAAGACT	0.388																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3079-3081)gCc>gGc		RANBP2-like and GRIP domain containing 4							1	2	2					2																	108487540		299	849	1148	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487540C>G	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.3080C>G	2.37:g.108487540C>G	ENSP00000386810:p.Ala1027Gly					RGPD4_ENST00000354986.4_Missense_Mutation_p.A1027G	p.A1027G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3157	+			1027					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3080C>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	5.935	0.356456	0.11239	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42513	0.97;0.97	2.33	2.33	0.28932	.	.	.	.	.	T	0.37156	0.0993	M	0.68317	2.08	0.23743	N	0.996968	B	0.31730	0.337	B	0.32583	0.148	T	0.29792	-1.0000	9	0.38643	T	0.18	-0.6292	4.3385	0.11097	0.0:0.6872:0.0:0.3128	.	1027	Q7Z3J3	RGPD4_HUMAN	G	1027;1027;785	ENSP00000347081:A1027G;ENSP00000386810:A1027G	ENSP00000347081:A1027G	A	+	2	0	RGPD4	107853972	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	4.545000	0.60698	1.303000	0.44873	0.162000	0.16502	GCC		0.388	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		166	199	0	0	0	1	0	166	199					G	108487540	C	G	108487540	3	3	325	1	0	0	0	0	1	0	0	0	13288	739	26	4	3158	4	RGPD4	2	108487540	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	11060430	108487540	134711833	7	32367											
LRP2	4036	broad.mit.edu	37	chr2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccacacagtcgttgCgtttgtcacagcgccagtgt	10	13	1	0	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	ENST00000263816.3	-	22	3551	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1089	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	ACAGTCGTTGCGTTTGTCACA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20464	0.0		0.001	False		,,,				2504	0.0					ENST00000263816.3																			0				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						c.(3265-3267)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	0,4406		0,0,2203	219	172	188		3266	-1.3	0	2	dbSNP_134	188	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRP2	NM_004525.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1089/4656	170101367	2,13004	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101367C>T		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.3266G>A	2.37:g.170101367C>T	ENSP00000263816:p.Arg1089His					LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	p.R1089H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3551	-			1089			LDL-receptor class A 9.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3266G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734707	0.15574	0.0	2.33E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95307	-3.67;-3.67	5.95	-1.3	0.09259	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.561822	0.21430	N	0.074680	D	0.83631	0.5296	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.71523	-0.4567	10	0.31617	T	0.26	.	4.5438	0.12071	0.2158:0.1845:0.0:0.5997	.	952;1089	E9PC35;P98164	.;LRP2_HUMAN	H	1089;952	ENSP00000263816:R1089H;ENSP00000409813:R952H	ENSP00000263816:R1089H	R	-	2	0	LRP2	169809613	1.000000	0.71417	0.000000	0.03702	0.062000	0.15995	5.097000	0.64542	-0.370000	0.08016	-1.223000	0.01593	CGC		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		77	114	0	0	0	1	0	77	114					T	170101367	C	T	170101367	3	4	325	1	0	0	0	0	1	0	0	0	8956	768	27	1	10933	1	LRP2	2	170101367	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	61613827	170101367	73098006	8	32368											
TTN	7273	broad.mit.edu	37	chr2	179456396	179456396	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacaatgttttcagctttTacacggaatctataggtctt	6	10	3	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:179456396T>C	ENST00000591111.1	-	253	55451	c.55227A>G	c.(55225-55227)gtA>gtG	p.V18409V	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V11177V|TTN_ENST00000342992.6_Silent_p.V17482V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V20050V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18409	Fibronectin type-III 33. {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)			TTTCAGCTTTTACACGGAATC	0.393																																						ENST00000589042.1																			0				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						c.(60148-60150)gtA>gtG		titin							234	220	224					2																	179456396		1882	4117	5999	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456396T>C	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.55227A>G	2.37:g.179456396T>C						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.V18409V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000342992.6_Silent_p.V17482V|TTN_ENST00000342175.6_Silent_p.V11177V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.V20050V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60374	-			18409			Fibronectin type-III 45.		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	ENST00000591111.1	37	c.60150A>G																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	295	0	0	0	1	0	4	295					C	179456396	T	C	179456396	2	2	325	1	0	0	0	0	0	0	0	1	16732	1741	61	3		3	TTN	2	179456396	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	9355029	179456396	63742977	9	32369											
NCKAP1	10787	broad.mit.edu	37	chr2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttacacttagggaagtcaTagtgttaacaaaagaggaca	9	5	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	ENST00000361354.4	-	14	1771	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M473V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	467					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1417-1419)Atg>Gtg		NCK-associated protein 1							53	55	55					2																	183843586		2202	4296	6498	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183843586T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1399A>G	2.37:g.183843586T>C	ENSP00000355348:p.Met467Val					NCKAP1_ENST00000361354.3_Missense_Mutation_p.M467V	p.M473V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		15	2175	-			467					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1417A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216623	0.58452	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.27720	1.65;1.65	5.44	5.44	0.79542	.	0.035510	0.85682	D	0.000000	T	0.30262	0.0759	L	0.43152	1.355	0.80722	D	1	B;B	0.14012	0.009;0.007	B;B	0.18871	0.023;0.013	T	0.04870	-1.0921	10	0.54805	T	0.06	-6.2624	15.7939	0.78394	0.0:0.0:0.0:1.0	.	467;473	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	467;473	ENSP00000355348:M467V;ENSP00000354251:M473V	ENSP00000354251:M473V	M	-	1	0	NCKAP1	183551831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.206000	0.72154	2.174000	0.68829	0.528000	0.53228	ATG		0.279	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		13	21	0	0	0	1	0	13	21					C	183843586	T	C	183843586	3	2	325	1	0	0	0	0	1	0	0	0	10221	1406	49	3	2059	3	NCKAP1	2	183843586	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	4387190	183843586	59355787	10	32370											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	41	0	0	0	1	0	31	41					T	209113112	C	T	209113112	3	4	325	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	25269526	209113112	34086261	11	32371											
NCL	4691	broad.mit.edu	37	chr2	232320164	232320164	+	Frame_Shift_Del	DEL	A	A	-													cctcctcggcctcctctaccAccacctcgtcctccaaagcc							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:232320164delA	ENST00000322723.4	-	13	2244	c.2004delT	c.(2002-2004)ggtfs	p.G669fs	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	669	Arg/Gly/Phe-rich.				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)		CTCCTCTACCACCACCTCGTC	0.567																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(2002-2004)ggfs		nucleolin							155	162	160					2																	232320164		2203	4300	6503	SO:0001589	frameshift_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320164delA		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.2004delT	2.37:g.232320164delA	ENSP00000318195:p.Gly669fs						p.G669fs	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		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)	13	2244	-		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)	669			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Frame_Shift_Del	DEL	ENST00000322723.4	37	c.2004delT	CCDS33397.1																																																																																				0.567	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	539						8	539	---	---	---	---	-	232320164	A	-	232320164	7	5	325	1	0	1	0	1	0	0	0	0	10226	146	6	0	136	0	NCL	2	232320164	Frame_Shift_Del	DEL	A	TCGA-HT-A619-01A-11D-A29Q-08	23207052	232320164	10879209	12	32372											
EPHA3	2042	broad.mit.edu	37	chr3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtactgcagtacagaaggcGaatggcttgtacccattggc	12	9	0	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	ENST00000336596.2	+	3	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	249	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.E249K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473										TSP Lung(6;0.00050)																												ENST00000336596.2																			1	Substitution - Missense(1)	p.E249K(1)	skin(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(745-747)Gaa>Aaa		EPH receptor A3							201	194	196					3																	89259601		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259601G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.745G>A	3.37:g.89259601G>A	ENSP00000337451:p.Glu249Lys	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K	p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	970	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	249			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.745G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909486	0.92107	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.75;-0.71	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.132552	0.53938	D	0.000047	T	0.79845	0.4516	M	0.66506	2.035	0.80722	D	1	P;D	0.63880	0.902;0.993	B;P	0.53988	0.084;0.739	T	0.77953	-0.2394	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	249;249	P29320;P29320-2	EPHA3_HUMAN;.	K	249	ENSP00000337451:E249K;ENSP00000399926:E249K;ENSP00000419190:E249K	.	E	+	1	0	EPHA3	89342291	1.000000	0.71417	0.918000	0.36340	0.869000	0.49853	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAA		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		133	182	0	0	0	1	0	133	182					A	89259601	G	A	89259601	3	1	325	1	0	0	0	0	1	0	0	0	5168	1059	37	1	755	1	EPHA3	3	89259601	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		89259601	108762829	13	32373											
PVRL3	25945	broad.mit.edu	37	chr3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttaatgatgcaacaattActctgcataacataggattc	5	9	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	ENST00000485303.1	+	2	675	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	134	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(400-402)Act>Gct		poliovirus receptor-related 3							125	122	123					3																	110831116		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110831116A>G	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.400A>G	3.37:g.110831116A>G	ENSP00000418070:p.Thr134Ala					PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A	p.T134A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			2	675	+			134			Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.400A>G	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.08|11.08	1.532456|1.532456	0.27387|0.27387	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766|ENST00000486596	T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38;-0.38|.	5.43|5.43	4.12|4.12	0.48240|0.48240	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.269112|.	0.42548|.	D|.	0.000683|.	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.05012|0.05012	-0.13|-0.13	0.27238|0.27238	N|N	0.959229|0.959229	B;B|.	0.26902|.	0.163;0.139|.	B;B|.	0.30105|.	0.111;0.088|.	T|T	0.11299|0.11299	-1.0593|-1.0593	10|5	0.05620|.	T|.	0.96|.	.|.	4.7437|4.7437	0.13028|0.13028	0.7705:0.0:0.2295:0.0|0.7705:0.0:0.2295:0.0	.|.	111;134|.	E9PFR0;Q9NQS3|.	.;PVRL3_HUMAN|.	A|C	87;134;134;111;119|133	ENSP00000418327:T87A;ENSP00000418070:T134A;ENSP00000321514:T134A;ENSP00000420579:T111A;ENSP00000420479:T119A|.	ENSP00000321514:T134A|.	T|Y	+|+	1|2	0|0	PVRL3|PVRL3	112313806|112313806	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.399000|1.399000	0.34566|0.34566	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.393	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		43	41	0	0	0	1	0	43	41					G	110831116	A	G	110831116	3	3	325	1	0	0	0	0	1	0	0	0	12841	391	14	3	406	3	PVRL3	3	110831116	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	21571515	110831116	87191314	14	32374											
PHLDB2	90102	broad.mit.edu	37	chr3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctcatgcagaaaagaCgcggctgctcgaatccaggg	14	11	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	ENST00000431670.2	+	14	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1050						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						GCAGAAAAGACGCGGCTGCTC	0.478																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3148-3150)aCg>aTg		pleckstrin homology-like domain, family B, member 2							78	87	84					3																	111685531		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111685531C>T		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.3149C>T	3.37:g.111685531C>T	ENSP00000405405:p.Thr1050Met					PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000470699.2_3'UTR	p.T1050M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			14	3560	+			1050					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3149C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334485	0.41297	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.63	5.63	0.86233	.	0.169746	0.53938	D	0.000057	T	0.69922	0.3165	L	0.56769	1.78	0.26667	N	0.971806	P;B;B;P;P	0.43938	0.744;0.14;0.433;0.822;0.822	B;B;B;B;B	0.37650	0.074;0.056;0.109;0.255;0.255	T	0.70641	-0.4816	10	0.54805	T	0.06	.	14.3365	0.66595	0.1489:0.8511:0.0:0.0	.	169;541;1050;1007;1034	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	M	1034;1050;1007;1007;1050;1007;541	ENSP00000377500:T1034M;ENSP00000405405:T1050M;ENSP00000405292:T1007M;ENSP00000418296:T1007M;ENSP00000377502:T1050M;ENSP00000418319:T1007M;ENSP00000420303:T541M	ENSP00000377500:T1034M	T	+	2	0	PHLDB2	113168221	0.593000	0.26840	0.973000	0.42090	0.845000	0.48019	1.535000	0.36061	2.818000	0.97014	0.591000	0.81541	ACG		0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		58	41	0	0	0	1	0	58	41					T	111685531	C	T	111685531	3	4	325	1	0	0	0	0	1	0	0	0	11852	536	19	1	3284	1	PHLDB2	3	111685531	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	854415	111685531	86336899	15	32375											
ZNF148	7707	broad.mit.edu	37	chr3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtaaggtttttctccactatGagttctcttatgcctttcca	6	10	2	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	ENST00000360647.4	-	8	1230	c.745C>G	c.(745-747)Cat>Gat	p.H249D	ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	249					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(745-747)Cat>Gat		zinc finger protein 148							113	115	114					3																	124953096		2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953096G>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.745C>G	3.37:g.124953096G>C	ENSP00000353863:p.His249Asp					SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron	p.H249D	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			8	1230	-			249					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.745C>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812306	0.70912	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.32	5.32	0.75619	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	0.87728	0.6250	H	0.95365	3.66	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90913	0.4777	10	0.87932	D	0	-4.9575	19.1883	0.93653	0.0:0.0:1.0:0.0	.	249	Q9UQR1	ZN148_HUMAN	D	249	ENSP00000353863:H249D;ENSP00000420335:H249D;ENSP00000419322:H249D;ENSP00000420448:H249D	ENSP00000353863:H249D	H	-	1	0	ZNF148	126435786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.764000	0.94973	0.650000	0.86243	CAT		0.303	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		31	42	0	0	0	1	0	31	42					C	124953096	G	C	124953096	3	2	325	1	0	0	0	0	1	0	0	0	17731	1290	45	4	1647	4	ZNF148	3	124953096	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	13267565	124953096	73069334	16	32376											
CCDC109B	55013	broad.mit.edu	37	chr4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtaacacttaccttgccatCtagaaaagaacgttgtcaat	7	9	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	ENST00000394650.4	+	3	363	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	77					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(229-231)tCt>tGt		coiled-coil domain containing 109B							86	71	76					4																	110581405		2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110581405C>G	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.230C>G	4.37:g.110581405C>G	ENSP00000378145:p.Ser77Cys					CCDC109B_ENST00000515114.1_3'UTR	p.S77C	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	3	363	+			77					A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.230C>G	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340900	0.81911	.	.	ENSG00000005059	ENST00000394650;ENST00000452915	T;T	0.50548	0.74;0.74	5.43	5.43	0.79202	.	0.096626	0.41823	U	0.000806	T	0.70745	0.3259	M	0.75085	2.285	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.73889	-0.3840	10	0.87932	D	0	-10.3143	19.2428	0.93891	0.0:1.0:0.0:0.0	.	77;56	Q9NWR8;C9JTJ6	C109B_HUMAN;.	C	77;56	ENSP00000378145:S77C;ENSP00000414591:S56C	ENSP00000378145:S77C	S	+	2	0	CCDC109B	110800854	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.871000	0.63042	2.547000	0.85894	0.650000	0.86243	TCT		0.328	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		12	8	0	0	0	1	0	12	8					G	110581405	C	G	110581405	3	3	325	1	0	0	0	0	1	0	0	0	2745	913	32	4	240	4	CCDC109B	4	110581405	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		110581405	80572871	17	32377											
EGF	1950	broad.mit.edu	37	chr4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggatgaaaaaagctgtGcagcttcaggttagtgctgt	12	6	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	ENST00000265171.5	+	9	1874	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_ENST00000503392.1_Missense_Mutation_p.A477T|EGF_ENST00000509793.1_Missense_Mutation_p.A435T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	477	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAAAAGCTGTGCAGCTTCAGG	0.423																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1429-1431)Gca>Aca		epidermal growth factor	Sulindac(DB00605)						172	159	164					4																	110884445		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110884445G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1429G>A	4.37:g.110884445G>A	ENSP00000265171:p.Ala477Thr					EGF_ENST00000509793.1_Missense_Mutation_p.A435T|EGF_ENST00000503392.1_Missense_Mutation_p.A477T	p.A477T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	9	1874	+		Hepatocellular(203;0.0893)	477			EGF-like 4.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1429G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	5.912	0.352285	0.11182	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.87650	-2.28;-2.2;-1.88	5.84	1.57	0.23409	Epidermal growth factor-like (1);	0.986120	0.08325	N	0.963141	T	0.69575	0.3126	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.13407	0.005;0.009;0.008	T	0.55438	-0.8141	10	0.11794	T	0.64	.	3.6732	0.08281	0.5458:0.0:0.2642:0.19	.	477;435;477	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	T	435;477;477	ENSP00000424316:A435T;ENSP00000265171:A477T;ENSP00000421384:A477T	ENSP00000265171:A477T	A	+	1	0	EGF	111103894	0.911000	0.30947	0.017000	0.16124	0.256000	0.26092	1.864000	0.39469	0.368000	0.24481	0.655000	0.94253	GCA		0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			62	94	0	0	0	1	0	62	94					A	110884445	G	A	110884445	3	1	325	1	0	0	0	0	1	0	0	0	4962	1319	46	2	1463	2	EGF	4	110884445	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	303040	110884445	80269831	18	32378											
DCHS2	54798	broad.mit.edu	37	chr4	155287390	155287390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaatggtaaaaagggaCgacacgtttcctggaataag	12	6	1	0	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	222	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)|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)		TAAAAAGGGACGACACGTTTC	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		20691	0.0		0.001	False		,,,				2504	0.001					ENST00000357232.3																			0				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						c.(664-666)tcG>tcA		dachsous cadherin-related 2		C	,	2,4404	4.2+/-10.8	0,2,2201	149	132	138		2448,666	-11.4	0	4	dbSNP_131	138	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	,	816/1370,222/2917	155287390	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287390C>T	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.666G>A	4.37:g.155287390C>T						DCHS2_ENST00000339452.1_Silent_p.S816S	p.S222S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	665	-	all_hematologic(180;0.208)	Renal(120;0.0854)	222			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.666G>A	CCDS3785.1																																																																																				0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		20	38	0	0	0	1	0	20	38					T	155287390	C	T	155287390	2	4	325	1	0	0	0	0	0	0	0	1	4288	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	44402945	155287390	35866886	19	32379											
CEP72	55722	broad.mit.edu	37	chr5	620335	620335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggttgagcctgactaccGcctttttgttgtgcacctgc	11	11	0	2	rs542279058		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				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)			CCTGACTACCGCCTTTTTGTT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20813	0.0		0.0	False		,,,				2504	0.0					ENST00000264935.5																			0				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						c.(361-363)cGc>cAc		centrosomal protein 72kDa							117	101	106					5																	620335		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:620335G>A	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.362G>A	5.37:g.620335G>A	ENSP00000264935:p.Arg121His					CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		3	452	+			121			LRRCT.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.362G>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689342	0.68271	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.31247	1.5;1.5	4.81	4.81	0.61882	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.063358	0.64402	D	0.000003	T	0.69672	0.3137	H	0.97682	4.055	0.52099	D	0.99994	D	0.89917	1.0	D	0.85130	0.997	T	0.81638	-0.0842	10	0.87932	D	0	-30.8591	15.1567	0.72749	0.0:0.0:1.0:0.0	.	121	Q9P209	CEP72_HUMAN	H	121	ENSP00000264935:R121H;ENSP00000392052:R121H	ENSP00000264935:R121H	R	+	2	0	CEP72	673335	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.539000	0.73856	2.347000	0.79759	0.462000	0.41574	CGC		0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		48	77	0	0	0	1	0	48	77					A	620335	G	A	620335	3	1	325	1	0	0	0	0	1	0	0	0	3260	1087	38	1	372	1	CEP72	5	620335	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		620335	180294925	20	32380											
SLC6A19	340024	broad.mit.edu	37	chr5	1219196	1219196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctcagagtcatcccccCgaagtggcccaaggaggtgc	13	14	2	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:1219196C>T	ENST00000304460.10	+	9	1408	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					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)			GTCATCCCCCCGAAGTGGCCC	0.607																																						ENST00000304460.10																			0				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						c.(1351-1353)cCg>cTg		solute carrier family 6 (neutral amino acid transporter), member 19							161	136	144					5																	1219196		2202	4300	6502	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219196C>T	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.1352C>T	5.37:g.1219196C>T	ENSP00000305302:p.Pro451Leu						p.P451L	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1408	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		451					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1352C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344992	0.24426	.	.	ENSG00000174358	ENST00000304460	T	0.72282	-0.64	4.55	0.468	0.16732	.	0.946794	0.08765	N	0.897239	T	0.53190	0.1781	N	0.08118	0	0.09310	N	1	B	0.24618	0.107	B	0.23574	0.047	T	0.42531	-0.9446	10	0.54805	T	0.06	.	14.3363	0.66592	0.3968:0.6032:0.0:0.0	.	451	Q695T7	S6A19_HUMAN	L	451	ENSP00000305302:P451L	ENSP00000305302:P451L	P	+	2	0	SLC6A19	1272196	0.000000	0.05858	0.004000	0.12327	0.733000	0.41908	0.859000	0.27858	-0.167000	0.10871	-0.500000	0.04577	CCG		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	38	0	0	0	1	0	3	38					T	1219196	C	T	1219196	3	4	325	1	0	0	0	0	1	0	0	0	14682	652	23	1	1386	1	SLC6A19	5	1219196	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	598861	1219196	179696064	21	32381											
MYO10	4651	broad.mit.edu	37	chr5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccataatgatgtcgatcCcattctccttggtggtgtta	10	10	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	ENST00000513610.1	-	28	4287	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E|MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1278	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3832-3834)gGg>gAg		myosin X							183	178	179					5																	16689996		2071	4210	6281	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689996C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3833G>A	5.37:g.16689996C>T	ENSP00000421280:p.Gly1278Glu					MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E|MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E	p.G1278E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4287	-			1278			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3833G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120423	0.77323	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.37544	0.1007	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.94;0.995;0.983	T	0.05273	-1.0895	9	0.72032	D	0.01	.	19.036	0.92978	0.0:1.0:0.0:0.0	.	157;919;1278	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	E	1278;617;635;617;635	ENSP00000421280:G1278E;ENSP00000425051:G617E;ENSP00000274203:G635E;ENSP00000421170:G617E;ENSP00000391106:G635E	ENSP00000274203:G635E	G	-	2	0	MYO10	16742996	0.939000	0.31865	1.000000	0.80357	0.817000	0.46193	2.114000	0.41911	2.603000	0.88011	0.655000	0.94253	GGG		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	49	0	0	0	1	0	11	49					T	16689996	C	T	16689996	3	4	325	1	0	0	0	0	1	0	0	0	10062	623	22	2	2399	2	MYO10	5	16689996	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15470800	16689996	164225264	22	32382											
NIPBL	25836	broad.mit.edu	37	chr5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagcagagacctgatgggCgatctgtttctgagtcacta	11	8	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	ENST00000282516.8	+	10	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	808					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)			ACCTGATGGGCGATCTGTTTC	0.428																																						ENST00000282516.8																			0				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						c.(2422-2424)Cga>Tga		Nipped-B homolog (Drosophila)							63	63	63					5																	36985704		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985704C>T	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.2422C>T	5.37:g.36985704C>T	ENSP00000282516:p.Arg808*					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*	p.R808*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2921	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		808					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.2422C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	42	9.413494	0.99164	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.99	5.99	0.97316	.	0.084417	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9809	15.2218	0.73316	0.1405:0.8595:0.0:0.0	.	.	.	.	X	808	.	ENSP00000282516:R808X	R	+	1	2	NIPBL	37021461	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.021000	0.49651	2.840000	0.97914	0.655000	0.94253	CGA		0.428	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		32	45	0	0	0	1	0	32	45					T	36985704	C	T	36985704	4	4	325	1	0	0	0	0	0	1	0	0	10428	760	27	1	2456	1	NIPBL	5	36985704	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	20295708	36985704	143929556	23	32383											
MAP1B	4131	broad.mit.edu	37	chr5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacataagtgaaaagaccaCcagcccccccgaagtgagtg	10	12	0	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	ENST00000296755.7	+	5	6189	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1964					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)		GAAAAGACCACCAGCCCCCCC	0.473																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(5890-5892)aCc>aGc		microtubule-associated protein 1B							64	69	67					5																	71495073		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495073C>G	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.5891C>G	5.37:g.71495073C>G	ENSP00000296755:p.Thr1964Ser						p.T1964S	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6189	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1964					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5891C>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.159	-1.083073	0.01888	.	.	ENSG00000131711	ENST00000296755	T	0.02890	4.12	4.98	1.91	0.25777	.	0.291406	0.29493	N	0.011991	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B;B	0.30727	0.292;0.009	B;B	0.36244	0.22;0.036	T	0.46034	-0.9220	10	0.54805	T	0.06	0.0267	8.2532	0.31739	0.0:0.4803:0.0:0.5197	.	1838;1964	A2BDK6;P46821	.;MAP1B_HUMAN	S	1964	ENSP00000296755:T1964S	ENSP00000296755:T1964S	T	+	2	0	MAP1B	71530829	0.000000	0.05858	0.004000	0.12327	0.334000	0.28698	-0.020000	0.12525	0.393000	0.25203	0.448000	0.29417	ACC		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		6	83	0	0	0	1	0	6	83					G	71495073	C	G	71495073	3	3	325	1	0	0	0	0	1	0	0	0	9228	507	18	4	5909	4	MAP1B	5	71495073	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	34509369	71495073	109420187	24	32384											
PCDHA2	56146	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	20	11	0	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {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)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				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						c.(1489-1491)Cgg>Tgg									53	57	56					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	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.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		6	148	0	0	0	1	0	6	148					T	140176038	C	T	140176038	3	4	325	1	0	0	0	0	1	0	0	0	11524	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	68680965	140176038	40739222	25	32385											
PCDHA3	56145	broad.mit.edu	37	chr5	140182696	140182696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgacccgtgccctggaCgaggtggacgccccgcgcca	14	17	0	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	ENST00000522353.2	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.D638D	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	638	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(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)			GTGCCCTGGACGAGGTGGACG	0.667																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1912-1914)gaC>gaT									67	68	68					5																	140182696		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140182696C>T	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.1914C>T	5.37:g.140182696C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.D638D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.D638D	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1914	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1914C>T	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		11	143	0	0	0	1	0	11	143					T	140182696	C	T	140182696	2	4	325	1	0	0	0	0	0	0	0	1	11525	535	19	1		1	PCDHA3	5	140182696	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	6658	140182696	40732564	26	32386											
SPRY4	81848	broad.mit.edu	37	chr5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagagcacccatgaaggaCcagcgggcgcagcagttgga	16	10	0	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	ENST00000434127.2	-	2	948	c.705G>A	c.(703-705)tgG>tgA	p.W235*	SPRY4_ENST00000344120.4_Nonsense_Mutation_p.W258*|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	235	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)			CCATGAAGGACCAGCGGGCGC	0.662									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(772-774)tgG>tgA		sprouty homolog 4 (Drosophila)							67	66	66					5																	141693969		2203	4300	6503	SO:0001587	stop_gained	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141693969C>T	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.705G>A	5.37:g.141693969C>T	ENSP00000399468:p.Trp235*					SPRY4_ENST00000434127.2_Nonsense_Mutation_p.W235*	p.W258*	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	960	-		all_hematologic(541;0.118)	235			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Nonsense_Mutation	SNP	ENST00000434127.2	37	c.774G>A	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	36	5.929834	0.97116	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8229	18.3187	0.90230	0.0:1.0:0.0:0.0	.	.	.	.	X	258;235	.	ENSP00000344967:W258X	W	-	3	0	SPRY4	141674153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.613000	0.67688	2.534000	0.85438	0.561000	0.74099	TGG		0.662	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			29	28	0	0	0	1	0	29	28					T	141693969	C	T	141693969	4	4	325	1	0	0	0	0	0	1	0	0	15107	508	18	2	198	2	SPRY4	5	141693969	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	1511273	141693969	39221291	27	32387											
ABCB5	340273	broad.mit.edu	37	chr7	20767947	20767947	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtacattccagaaatacctcGaagaaagcacagattattgg	8	8	0	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	912	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						GAAATACCTCGAAGAAAGCAC	0.353																																						ENST00000404938.2																			0				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						c.(2734-2736)tcG>tcA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							134	140	138					7																	20767947		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20767947G>A	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.2736G>A	7.37:g.20767947G>A						ABCB5_ENST00000258738.6_Silent_p.S467S	p.S912S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			23	3388	+			467					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.2736G>A	CCDS55090.1																																																																																				0.353	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		52	145	0	0	0	1	0	52	145					A	20767947	G	A	20767947	2	1	325	1	0	0	0	0	0	0	0	1	44	1045	37	1		1	ABCB5	7	20767947	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		20767947	138370716	28	32388											
DNAH11	8701	broad.mit.edu	37	chr7	21721268	21721268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagatgtccatgccagagaCgtggtggcaaaacttatttc	10	8	0	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:21721268C>T	ENST00000409508.3	+	31	5464	c.5433C>T	c.(5431-5433)gaC>gaT	p.D1811D	DNAH11_ENST00000328843.6_Silent_p.D1816D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1816	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCCAGAGACGTGGTGGCAA	0.398									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5446-5448)gaC>gaT		dynein, axonemal, heavy chain 11							147	141	143					7																	21721268		1895	4130	6025	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21721268C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5433C>T	7.37:g.21721268C>T						DNAH11_ENST00000409508.3_Silent_p.D1811D	p.D1816D			Q96DT5	DYH11_HUMAN			31	5479	+			1816			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5448C>T																																																																																					0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	121	0	0	0	1	0	4	121					T	21721268	C	T	21721268	2	4	325	1	0	0	0	0	0	0	0	1	4599	535	19	1		1	DNAH11	7	21721268	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	953321	21721268	137417395	29	32389											
FBXL13	222235	broad.mit.edu	37	chr7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactttttcactgttaattcTaaggctcctttagatgatgt	7	7	2	2	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	ENST00000313221.4	-	20	2583	c.2157A>C	c.(2155-2157)ttA>ttC	p.L719F	FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000393772.2_Missense_Mutation_p.L691F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(2071-2073)ttA>ttC		F-box and leucine-rich repeat protein 13							240	208	219					7																	102453840		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102453840T>G	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.2157A>C	7.37:g.102453840T>G	ENSP00000321927:p.Leu719Phe					FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000313221.4_Missense_Mutation_p.L719F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F	p.L691F			Q8NEE6	FXL13_HUMAN			19	2499	-			719					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.2073A>C	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941492	0.53079	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.10477	3.0;2.97;2.87;3.0;2.95;2.95;2.87;2.97	5.04	-0.202	0.13208	.	5.064460	0.00166	N	0.000012	T	0.09158	0.0226	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.43094	0.799;0.681;0.799;0.697	B;B;B;B	0.41764	0.366;0.221;0.366;0.201	T	0.16305	-1.0407	10	0.51188	T	0.08	.	4.2182	0.10545	0.1639:0.3883:0.0:0.4478	.	674;437;691;719	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	F	691;674;437;440;691;719;719;437;674	ENSP00000377367:L691F;ENSP00000368610:L674F;ENSP00000368608:L437F;ENSP00000368607:L691F;ENSP00000388608:L719F;ENSP00000321927:L719F;ENSP00000409716:L437F;ENSP00000391550:L674F	ENSP00000321927:L719F	L	-	3	2	FBXL13	102241076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.033000	0.12246	0.060000	0.16281	0.482000	0.46254	TTA		0.418	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		44	98	0	0	0	1	0	44	98					G	102453840	T	G	102453840	3	3	325	1	0	0	0	0	1	0	0	0	5709	1519	53	5	54	5	FBXL13	7	102453840	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	80732572	102453840	56684823	30	32390											
WNT16	51384	broad.mit.edu	37	chr7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-													cgtgctgttcccctacggagCccaaggaaactggatgtgag							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	ENST00000222462.2	+	1	370	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	27					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)					CCCTACGGAGCCCAAGGAAAC	0.647																																						ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(79-81)gcfs		wingless-type MMTV integration site family, member 16							27	29	28					7																	120969426		2202	4300	6502	SO:0001589	frameshift_variant	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120969426delC	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.80delC	7.37:g.120969426delC	ENSP00000222462:p.Ala27fs					WNT16_ENST00000361301.2_Intron	p.A27fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			1	370	+	all_neural(327;0.117)		27					Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	ENST00000222462.2	37	c.80delC	CCDS5781.1																																																																																				0.647	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		33	25						33	25	---	---	---	---	-	120969426	C	-	120969426	7	5	325	1	0	1	0	1	0	0	0	0	17382	739	26	0	151	0	WNT16	7	120969426	Frame_Shift_Del	DEL	C	TCGA-HT-A619-01A-11D-A29Q-08	18515586	120969426	38169237	31	32391											
ASB15	142685	broad.mit.edu	37	chr7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-													accacatttcccagagctatGacgatgagaggaagactgcg							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	ENST00000451558.1	+	12	1560_1561	c.1039_1040delGA	c.(1039-1041)gacfs	p.D348fs	ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1039-1041)cfs		ankyrin repeat and SOCS box containing 15																																				SO:0001589	frameshift_variant	142685				intracellular signal transduction			g.chr7:123269087_123269088delGA	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.1039_1040delGA	7.37:g.123269087_123269088delGA	ENSP00000397655:p.Asp348fs					ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs	p.D348fs			Q8WXK1	ASB15_HUMAN			12	1560_1561	+			348					Q3ZCP3|Q3ZCP5|Q68D37	Frame_Shift_Del	DEL	ENST00000451558.1	37	c.1039_1040delGA	CCDS34742.1																																																																																				0.455	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			55	162						55	162	---	---	---	---	-	123269088	GA	-	123269087	7	5	325	1	0	1	0	1	0	0	0	0	1019	1290	45	0	1065	0	ASB15	7	123269087	Frame_Shift_Del	DEL	GA	TCGA-HT-A619-01A-11D-A29Q-08	2299661	123269087	35869576	32	32392											
EPHB6	2051	broad.mit.edu	37	chr7	142561054	142561054	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtagcctatgggtgctGctcctggtgtcttcagttct	13	9	3	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	ENST00000392957.2	+	5	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.L23L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	23						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)					TATGGGTGCTGCTCCTGGTGT	0.587																																						ENST00000392957.2																			0				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						c.(67-69)ctG>ctT		EPH receptor B6							87	66	73					7																	142561054		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561054G>T	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.69G>T	7.37:g.142561054G>T						EPHB6_ENST00000442129.1_Silent_p.L23L|EPHB6_ENST00000411471.2_Intron	p.L23L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			5	856	+	Melanoma(164;0.059)		23					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.69G>T	CCDS5873.2																																																																																				0.587	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			9	95	1	0	0.000274275	1	0.00028058	9	95					T	142561054	G	T	142561054	2	4	325	1	0	0	0	0	0	0	0	1	5178	1306	46	4		4	EPHB6	7	142561054	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	19291967	142561054	16577609	33	32393											
SSPO	23145	broad.mit.edu	37	chr7	149516518	149516518	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgcctgcgggcataccGtccccctgggcccggcgggc	16	19	0	0	rs555123515	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	ENST00000378016.2	+	0	11921							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)			CGGGCATACCGTCCCCCTGGG	0.711													g|||	2	0.000399361	0.0	0.0	5008	,	,		15267	0.002		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							15	20	18					7																	149516518		1959	4125	6084			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149516518G>A	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.149516518G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11921	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	47	0	0	0	1	0	8	47					A	149516518	G	A	149516518	1	1	325	0	1	0	0	0	0	0	0	0	15188	1145	40	1		1	SSPO	7	149516518	RNA	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	6955464	149516518	9622145	34	32394											
ADAM28	10863	broad.mit.edu	37	chr8	24187513	24187513	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttaggaccacagcgataatCttcttagagttgcagggaca	10	8	2	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:24187513C>T	ENST00000265769.4	+	11	1098	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGCGATAATCTTCTTAGAGT	0.388																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(988-990)Ctt>Ttt		ADAM metallopeptidase domain 28							143	133	137					8																	24187513		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24187513C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.988C>T	8.37:g.24187513C>T	ENSP00000265769:p.Leu330Phe					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA	p.L330F	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	11	1098	+		Prostate(55;0.0959)	330			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.988C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381087	0.01204	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.86	2.96	0.34315	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.08358	0.0208	L	0.42529	1.33	0.09310	N	1	P;P;P;P	0.43607	0.752;0.812;0.812;0.717	B;B;B;B	0.42738	0.396;0.342;0.342;0.275	T	0.12066	-1.0562	9	0.10111	T	0.7	.	2.5044	0.04641	0.2701:0.4054:0.2301:0.0945	.	97;330;330;330	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	F	330;77;97;330	ENSP00000265769:L330F;ENSP00000380770:L77F;ENSP00000443743:L97F;ENSP00000393699:L330F	ENSP00000265769:L330F	L	+	1	0	ADAM28	24243458	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.474000	0.06607	0.825000	0.34637	0.655000	0.94253	CTT		0.388	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	128	0	0	0	1	0	7	128					T	24187513	C	T	24187513	3	4	325	1	0	0	0	0	1	0	0	0	246	913	32	2	1030	2	ADAM28	8	24187513	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		24187513	122176509	35	32395											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-													aagcatcgcgggaaaacaatAagcctcgcacagttctgaag					rs369862992|rs567610910		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	ENST00000380737.3	+	10	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	387					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R389H(1)|p.R389R(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431																																						ENST00000380737.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R389H(1)|p.R389R(1)	large_intestine(1)|endometrium(1)	kidney(1)|large_intestine(2)|ovary(1)	4						c.(1159-1176)del		protein phosphatase 2, regulatory subunit B, alpha																																				SO:0001651	inframe_deletion	5520							g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1159_1176delAAGCCTCGCACAGTTCTG	8.37:g.26227744_26227761delAAGCCTCGCACAGTTCTG	ENSP00000370113:p.Lys387_Leu392del					PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	p.KPRTVL387del	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1488_1505	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	In_Frame_Del	DEL	ENST00000380737.3	37	c.1159_1176delAAGCCTCGCACAGTTCTG	CCDS34867.1																																																																																				0.431	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		18	37						18	37	---	---	---	---	-	26227761	AAGCCTCGCACAGTTCTG	-	26227744	7	5	325	1	0	1	0	1	0	0	0	0	12384	363	13	0	1238	0	PPP2R2A	8	26227744	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	TCGA-HT-A619-01A-11D-A29Q-08	2040231	26227744	120136278	36	32396											
PXDNL	137902	broad.mit.edu	37	chr8	52233389	52233389	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcatccagcgctcctcGgccttccttggaacccctct	6	18	3	0	rs371941977		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	ENST00000356297.4	-	22	4315	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1405	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)				AGCGCTCCTCGGCCTTCCTTG	0.527																																						ENST00000356297.4																			0				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						c.(4213-4215)gcC>gcT		peroxidasin homolog (Drosophila)-like		G		0,3896		0,0,1948	148	162	157		4215	-1	0	8		157	1,8287		0,1,4143	no	coding-synonymous	PXDNL	NM_144651.4		0,1,6091	AA,AG,GG		0.0121,0.0,0.0082		1405/1464	52233389	1,12183	1948	4144	6092	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52233389G>A		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.4215C>T	8.37:g.52233389G>A						PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	p.A1405A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			22	4315	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1405			VWFC.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.4215C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413718	0.01145	0.0	1.21E-4	ENSG00000147485	ENST00000522933	.	.	.	4.43	-0.977	0.10282	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	.	5.5602	0.17140	0.1731:0.0:0.5851:0.2418	.	.	.	.	L	479	.	.	P	-	2	0	PXDNL	52395942	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.113000	0.15499	-1.078000	0.03117	-2.048000	0.00412	CCG		0.527	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		115	115	0	0	0	1	0	115	115					A	52233389	G	A	52233389	2	1	325	1	0	0	0	0	0	0	0	1	12848	1103	39	1		1	PXDNL	8	52233389	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26005645	52233389	94130633	37	32397											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttggtgagcaccagcTgctggcagggcgaggggggg	20	9	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	ENST00000276826.5	-	4	1310	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	370					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1108-1110)cAg>cGg		Rho GTPase activating protein 39							15	12	13					8																	145773361		2178	4246	6424	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773361T>C		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1109A>G	8.37:g.145773361T>C	ENSP00000276826:p.Gln370Arg					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R	p.Q370R			Q9C0H5	RHG39_HUMAN			4	1310	-			370					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1109A>G		.	.	.	.	.	.	.	.	.	.	T	16.12	3.033945	0.54896	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72942	-0.7;-0.43;-0.7	5.37	5.37	0.77165	.	0.135450	0.52532	D	0.000074	T	0.72906	0.3519	L	0.50333	1.59	0.38847	D	0.95618	P;P	0.38827	0.517;0.649	B;P	0.48304	0.369;0.573	T	0.74321	-0.3703	10	0.39692	T	0.17	-13.1644	13.3108	0.60378	0.0:0.0:0.0:1.0	.	370;370	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	R	370	ENSP00000276826:Q370R;ENSP00000366522:Q370R;ENSP00000445075:Q370R	ENSP00000276826:Q370R	Q	-	2	0	ARHGAP39	145744169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.663000	0.61532	2.032000	0.59987	0.533000	0.62120	CAG		0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			13	15	0	0	0	1	0	13	15					C	145773361	T	C	145773361	3	2	325	1	0	0	0	0	1	0	0	0	884	1580	55	3	2267	3	ARHGAP39	8	145773361	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	93539972	145773361	590661	38	32398											
RGS3	5998	broad.mit.edu	37	chr9	116356592	116356592	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctcactcgcaacgggaaCctgcagaggcgacacacgat	10	14	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:116356592C>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000462403.1_Silent_p.N131N|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|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						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						GCAACGGGAACCTGCAGAGGC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(391-393)aaC>aaT		regulator of G-protein signaling 3							48	55	53					9																	116356592		2202	4300	6502	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356592C>T	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.3081-118C>T	9.37:g.116356592C>T						RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron	p.N131N	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	827	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.393C>T	CCDS43869.1																																																																																				0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		76	97	0	0	0	1	0	76	97					T	116356592	C	T	116356592	1	4	325	0	1	0	0	0	0	0	0	0	13306	506	18	2		2	RGS3	9	116356592	Intron	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		116356592	24856839	39	32399											
OLFML2A	169611	broad.mit.edu	37	chr9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatcaagtacgacctaCggcagcgcttcgtggcctcc	9	15	2	0	rs534548756		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	ENST00000373580.3	+	8	1474	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	492	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1474-1476)Cgg>Tgg		olfactomedin-like 2A							117	91	100					9																	127572206		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572206C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1474C>T	9.37:g.127572206C>T	ENSP00000362682:p.Arg492Trp					OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	p.R492W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1474	+			492			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1474C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835014	0.71373	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89552	1.39;-2.53	6.07	5.16	0.70880	Olfactomedin-like (3);	0.058981	0.64402	D	0.000006	D	0.93963	0.8067	M	0.83118	2.625	0.44168	D	0.996973	D;D	0.89917	0.999;1.0	D;D	0.65874	0.913;0.939	D	0.94545	0.7748	10	0.87932	D	0	.	13.0997	0.59212	0.4277:0.5723:0.0:0.0	.	278;492	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	W	184;492;278	ENSP00000362682:R492W;ENSP00000288815:R278W	ENSP00000288815:R278W	R	+	1	2	OLFML2A	126612027	0.984000	0.35163	1.000000	0.80357	0.934000	0.57294	0.567000	0.23608	1.534000	0.49203	0.655000	0.94253	CGG		0.592	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		60	90	0	0	0	1	0	60	90					T	127572206	C	T	127572206	3	4	325	1	0	0	0	0	1	0	0	0	10857	527	19	1	1504	1	OLFML2A	9	127572206	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	11215614	127572206	13641225	40	32400											
GTF3C4	9329	broad.mit.edu	37	chr9	135546108	135546108	+	Silent	SNP	G	G	T													ccagcagcggacgcggccccGgggcccagcgctgcattccg							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546108G>T	ENST00000372146.4	+	1	687	c.123G>T	c.(121-123)ccG>ccT	p.P41P	DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|GTF3C4_ENST00000483873.2_Silent_p.P41P|DDX31_ENST00000310532.2_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000372153.1_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	41					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|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)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGCGGCCCCGGGGCCCAGCG	0.761																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(121-123)ccG>ccT		general transcription factor IIIC, polypeptide 4, 90kDa							5	7	6					9																	135546108		2055	4086	6141	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546108G>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.123G>T	9.37:g.135546108G>T						GTF3C4_ENST00000483873.2_Silent_p.P41P	p.P41P	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	687	+			41					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.123G>T	CCDS6953.1																																																																																				0.761	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			3	0	1	0	0.150653	1	0.150653	3	0					T	135546108	G	T	135546108	2	4	325	1	0	0	0	0	0	0	0	1	6875	1103	39	4		4	GTF3C4	9	135546108	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	7973902	135546108	5667323	41	32401	144	2									
GTF3C4	9329	broad.mit.edu	37	chr9	135546109	135546109	+	Missense_Mutation	SNP	G	G	A													cagcagcggacgcggccccgGggcccagcgctgcattccgc							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546109G>A	ENST00000372146.4	+	1	688	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R|DDX31_ENST00000310532.2_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000372153.1_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	42					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|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)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCGGCCCCGGGGCCCAGCGC	0.756																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(124-126)Ggg>Agg		general transcription factor IIIC, polypeptide 4, 90kDa							5	7	6					9																	135546109		2061	4095	6156	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546109G>A	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.124G>A	9.37:g.135546109G>A	ENSP00000361219:p.Gly42Arg					GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R	p.G42R	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	688	+			42					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.124G>A	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864571	0.71949	.	.	ENSG00000125484	ENST00000372146	T	0.51574	0.7	3.39	3.39	0.38822	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.118374	0.34156	N	0.004208	T	0.27629	0.0679	N	0.08118	0	0.26224	N	0.979112	P	0.39326	0.668	B	0.40477	0.33	T	0.15093	-1.0449	10	0.87932	D	0	-16.3621	8.021	0.30408	0.1182:0.0:0.8818:0.0	.	42	Q9UKN8	TF3C4_HUMAN	R	42	ENSP00000361219:G42R	ENSP00000361219:G42R	G	+	1	0	GTF3C4	134535930	0.904000	0.30761	0.996000	0.52242	0.625000	0.37756	1.329000	0.33770	1.882000	0.54519	0.462000	0.41574	GGG		0.756	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			3	0	0	0	0	1	0	3	0					A	135546109	G	A	135546109	3	1	325	1	0	0	0	0	1	0	0	0	6875	1232	43	2	126	2	GTF3C4	9	135546109	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	1	135546109	5667322	42	32402	144	2									
DBH	1621	broad.mit.edu	37	chr9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgcagctcctgaagcCcaatatccccgaaccggagt	12	13	0	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	ENST00000393056.2	+	3	611	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	200					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)	CTCCTGAAGCCCAATATCCCC	0.622																																						ENST00000393056.2																			0				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						c.(598-600)cCc>cGc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						60	58	58					9																	136507441		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507441C>G	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.599C>G	9.37:g.136507441C>G	ENSP00000376776:p.Pro200Arg						p.P200R	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	611	+			200					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.599C>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167588	0.38315	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.34859	1.34;1.34	4.97	4.97	0.65823	DOMON domain (1);Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.051665	0.85682	D	0.000000	T	0.51719	0.1691	M	0.81682	2.555	0.53688	D	0.999977	P	0.45011	0.848	P	0.47206	0.541	T	0.58923	-0.7550	10	0.51188	T	0.08	-16.3055	18.2251	0.89914	0.0:1.0:0.0:0.0	.	200	P09172	DOPO_HUMAN	R	200;137;137	ENSP00000376776:P200R;ENSP00000263611:P137R	ENSP00000263611:P137R	P	+	2	0	DBH	135497262	1.000000	0.71417	0.781000	0.31783	0.190000	0.23558	7.254000	0.78329	2.309000	0.77851	0.491000	0.48974	CCC		0.622	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		26	47	0	0	0	1	0	26	47					G	136507441	C	G	136507441	3	3	325	1	0	0	0	0	1	0	0	0	4250	623	22	4	609	4	DBH	9	136507441	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	961332	136507441	4705990	43	32403											
CELF2	10659	broad.mit.edu	37	chr10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggtatggcggctctgaatGgaggacttggcgccacaggc	16	10	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	ENST00000379261.4	+	11	1185	c.1093G>C	c.(1093-1095)Gga>Cga	p.G365R	CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000315874.4_Missense_Mutation_p.G347R|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000608830.1_Missense_Mutation_p.G345R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000609692.1_Missense_Mutation_p.G345R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1093-1095)Gga>Cga		CUGBP, Elav-like family member 2							123	119	121					10																	11363187		2047	4209	6256	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363187G>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1093G>C	10.37:g.11363187G>C	ENSP00000368563:p.Gly365Arg					CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000315874.3_Missense_Mutation_p.G347R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R	p.G365R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1185	+			365			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1093G>C	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046072	0.93740	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.33	5.33	0.75918	.	0.152854	0.64402	D	0.000014	D	0.87803	0.6269	M	0.73962	2.25	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;0.999;0.996;0.997;1.0	D	0.85210	0.1020	10	0.31617	T	0.26	-7.181	19.2874	0.94084	0.0:0.0:1.0:0.0	.	353;371;366;378;378;365	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	R	365;365;378;378;347;345;347;347;355;347;260;171	ENSP00000368563:G365R;ENSP00000406451:G365R;ENSP00000389951:G378R;ENSP00000443926:G378R;ENSP00000382743:G347R;ENSP00000404834:G345R;ENSP00000315328:G347R;ENSP00000346426:G347R;ENSP00000388530:G347R;ENSP00000438884:G260R	ENSP00000315328:G347R	G	+	1	0	CELF2	11403193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.789000	0.95967	0.558000	0.71614	GGA		0.517	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				35	68	0	0	0	1	0	35	68					C	11363187	G	C	11363187	3	2	325	1	0	0	0	0	1	0	0	0	3216	1349	47	4	1243	4	CELF2	10	11363187	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		11363187	124171560	44	32404											
MUC2	4583	broad.mit.edu	37	chr11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtcccacaggctgcacgGccccaaagatccacatggac	9	17	0	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	ENST00000441003.2	+	18	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	761					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)	AGGCTGCACGGCCCCAAAGAT	0.701																																						ENST00000441003.2																			0				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						c.(2281-2283)Gcc>Acc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						17	20	19					11																	1083749		2055	4176	6231	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083749G>A	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.2281G>A	11.37:g.1083749G>A	ENSP00000415183:p.Ala761Thr					MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2308	+		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)	761					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2281G>A		.	.	.	.	.	.	.	.	.	.	G	10.54	1.377745	0.24944	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.21734	1.99;1.99	4.07	-4.67	0.03319	.	1.527920	0.04298	U	0.346748	T	0.23611	0.0571	L	0.55213	1.73	0.09310	N	1	P	0.42203	0.773	B	0.44108	0.441	T	0.43925	-0.9361	10	0.42905	T	0.14	.	8.7847	0.34814	0.0:0.2298:0.1916:0.5787	.	761	E7EUV1	.	T	761	ENSP00000415183:A761T;ENSP00000351956:A761T	ENSP00000351956:A761T	A	+	1	0	MUC2	1073749	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-0.500000	0.06405	-0.640000	0.05495	0.195000	0.17529	GCC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	26	0	0	0	1	0	12	26					A	1083749	G	A	1083749	3	1	325	1	0	0	0	0	1	0	0	0	9975	1203	42	2	2351	2	MUC2	11	1083749	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		1083749	133922767	45	32405											
TSPAN32	10077	broad.mit.edu	37	chr11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G													ggctgcagcttggaccgcaaINSgggcaaatacaccctgaccc							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	ENST00000182290.4	+	8	832_833	c.695_696insG	c.(694-699)aagggcfs	p.KG232fs	TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.KG232fs|TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.KG221fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	232					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(694-696)aggfs		tetraspanin 32																																				SO:0001589	frameshift_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2337873_2337874insG	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.698dupG	11.37:g.2337876_2337876dupG	ENSP00000182290:p.Lys232fs					TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.R221fs|TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.R232fs	p.R232fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	832_833	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	232					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Frame_Shift_Ins	INS	ENST00000182290.4	37	c.695_696insG	CCDS7733.1																																																																																				0.658	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		75	78						75	78	---	---	---	---	G	2337874	-	G	2337873	7	5	325	1	0	1	1	0	0	0	0	0	16644	72	3	0	725	0	TSPAN32	11	2337873	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	1254124	2337873	132668643	46	32406											
C11orf41	25758	broad.mit.edu	37	chr11	33581347	33581347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttggtgtacgtcgtggGcaatcagagcacattcctca	10	12	2	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:33581347G>A	ENST00000321505.4	+	6	3197	c.3017G>A	c.(3016-3018)gGc>gAc	p.G1006D	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G1012D|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1012D			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1006						integral component of membrane (GO:0016021)											TACGTCGTGGGCAATCAGAGC	0.577																																						ENST00000321505.4																			0											c.(3016-3018)gGc>gAc		KIAA1549-like							105	104	104					11																	33581347		2148	4249	6397	SO:0001583	missense	25758							g.chr11:33581347G>A	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.3017G>A	11.37:g.33581347G>A	ENSP00000315295:p.Gly1006Asp					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1012D|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G1012D	p.G1006D							6	3197	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3017G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.634406|2.634406	0.47049|0.47049	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.42|5.42	1.28|1.28	0.21552|0.21552	.|.	.|0.675630	.|0.15665	.|N	.|0.250705	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.08118|0.08118	0|0	0.25948|0.25948	N|N	0.982783|0.982783	.|P;B	.|0.39920	.|0.695;0.328	.|B;B	.|0.40285	.|0.325;0.121	T|T	0.10543|0.10543	-1.0625|-1.0625	5|9	.|0.45353	.|T	.|0.12	-2.8867|-2.8867	7.1085|7.1085	0.25376|0.25376	0.1525:0.4263:0.4212:0.0|0.1525:0.4263:0.4212:0.0	.|.	.|1012;1012	.|E9PAT2;Q6ZVL6-2	.|.;.	T|D	404|1006;1012;1012;845	.|.	.|ENSP00000265654:G1012D	A|G	+|+	1|2	0|0	C11orf41|C11orf41	33537923|33537923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.206000|1.206000	0.32321|0.32321	0.319000|0.319000	0.23209|0.23209	0.573000|0.573000	0.79308|0.79308	GCA|GGC		0.577	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		4	180	0	0	0	1	0	4	180					A	33581347	G	A	33581347	3	1	325	1	0	0	0	0	1	0	0	0	1640	1203	42	2	3057	2	C11orf41	11	33581347	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	31243474	33581347	101425169	47	32407											
AHNAK	79026	broad.mit.edu	37	chr11	62289071	62289071	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagggaaacatccacatcaCccttcaccttgggacctttc	7	14	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:62289071C>G	ENST00000378024.4	-	5	13092	c.12818G>C	c.(12817-12819)gGt>gCt	p.G4273A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4273					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)				ATCCACATCACCCTTCACCTT	0.493																																						ENST00000378024.4																			0				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						c.(12817-12819)gGt>gCt		AHNAK nucleoprotein							199	202	201					11																	62289071		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289071C>G	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.12818G>C	11.37:g.62289071C>G	ENSP00000367263:p.Gly4273Ala					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G4273A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13092	-		Melanoma(852;0.155)	4273					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12818G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	7.623	0.677268	0.14841	.	.	ENSG00000124942	ENST00000378024	T	0.05925	3.37	4.73	4.73	0.59995	.	0.000000	0.41294	D	0.000908	T	0.14056	0.0340	M	0.62016	1.91	0.34543	D	0.710449	D	0.56035	0.974	P	0.54270	0.747	T	0.14727	-1.0462	10	0.08599	T	0.76	.	15.5867	0.76489	0.0:1.0:0.0:0.0	.	4273	Q09666	AHNK_HUMAN	A	4273	ENSP00000367263:G4273A	ENSP00000367263:G4273A	G	-	2	0	AHNAK	62045647	0.982000	0.34865	0.931000	0.37212	0.008000	0.06430	4.685000	0.61693	2.194000	0.70268	0.543000	0.68304	GGT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	346	0	0	0	1	0	7	346					G	62289071	C	G	62289071	3	3	325	1	0	0	0	0	1	0	0	0	414	507	18	4	4974	4	AHNAK	11	62289071	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	28707724	62289071	72717445	48	32408											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG													ggtcctgtcccaggtatgctINStgtcatccatggctgcgggc							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	ENST00000289575.5	+	9	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.L239fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.L128fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.L361fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.L267fs	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	383					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCAGGTATGCTTGTCATCCATG	0.624																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1147-1149)gtcfs		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)																																			SO:0001589	frameshift_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904334_74904335insTG	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1148_1149dupTG	11.37:g.74904335_74904336dupTG	ENSP00000289575:p.Leu383fs					SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.V156fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.V128fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.V267fs|SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.V156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.V239fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.V361fs	p.V383fs	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1542_1543	+			383					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Frame_Shift_Ins	INS	ENST00000289575.5	37	c.1147_1148insTG	CCDS8235.1																																																																																				0.624	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		71	91						71	91	---	---	---	---	TG	74904335	-	TG	74904334	7	5	325	1	0	1	1	0	0	0	0	0	14727	1606	56	0	1181	0	SLCO2B1	11	74904334	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	12615263	74904334	60102182	49	32409											
PRPF40B	25766	broad.mit.edu	37	chr12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactaagaagagaagacAcaagtcggtgagtgaaggaa	13	4	0	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	ENST00000380281.1	+	23	2436	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.H778R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463																																						ENST00000261897.1																			1	Substitution - Missense(1)	p.H791R(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2332-2334)cAc>cGc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							69	68	69					12																	50037528		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037528A>G	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2372A>G	12.37:g.50037528A>G	ENSP00000369634:p.His791Arg					PRPF40B_ENST00000380281.1_Missense_Mutation_p.H791R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|FMNL3_ENST00000335154.5_3'UTR	p.H778R			Q6NWY9	PR40B_HUMAN			23	2884	+			791					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2333A>G		.	.	.	.	.	.	.	.	.	.	A	13.84	2.357573	0.41801	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.23754	1.89;1.9	4.58	4.58	0.56647	.	0.421373	0.22144	N	0.064002	T	0.41026	0.1141	L	0.39147	1.195	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.95;0.978;0.978	T	0.24476	-1.0159	10	0.62326	D	0.03	-5.9535	13.4273	0.61032	1.0:0.0:0.0:0.0	.	791;778;790	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	R	778;791	ENSP00000261897:H778R;ENSP00000369634:H791R	ENSP00000261897:H778R	H	+	2	0	PRPF40B	48323795	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.872000	0.87187	2.085000	0.62840	0.454000	0.30748	CAC		0.463	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		27	22	0	0	0	1	0	27	22					G	50037528	A	G	50037528	3	3	325	1	0	0	0	0	1	0	0	0	12572	159	6	3	2462	3	PRPF40B	12	50037528	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08		50037528	83814367	50	32410											
CIT	11113	broad.mit.edu	37	chr12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctccaggacaatgtactTcctgtcccagccttgctgtc	7	16	0	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	ENST00000261833.7	-	34	4448	c.4396A>G	c.(4396-4398)Aag>Gag	p.K1466E	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.K1508E|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1466	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		ACAATGTACTTCCTGTCCCAG	0.443																																						ENST00000392521.2																			0				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						c.(4522-4524)Aag>Gag		citron (rho-interacting, serine/threonine kinase 21)							236	232	233					12																	120151065		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120151065T>C	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.4396A>G	12.37:g.120151065T>C	ENSP00000261833:p.Lys1466Glu					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K1466E	p.K1508E	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	35	4577	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1466			PH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.4522A>G	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620066	0.87460	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.67345	-0.23;-0.26	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.63843	1.955	0.58432	D	0.999997	D;P;P	0.62365	0.991;0.888;0.925	P;B;P	0.55923	0.787;0.257;0.621	T	0.79127	-0.1931	10	0.87932	D	0	.	16.0326	0.80588	0.0:0.0:0.0:1.0	.	1508;1466;984	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	E	1508;1466	ENSP00000376306:K1508E;ENSP00000261833:K1466E	ENSP00000261833:K1466E	K	-	1	0	CIT	118635448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.185000	0.69588	0.528000	0.53228	AAG		0.443	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		131	154	0	0	0	1	0	131	154					C	120151065	T	C	120151065	3	2	325	1	0	0	0	0	1	0	0	0	3438	1792	62	3	1743	3	CIT	12	120151065	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	70113537	120151065	13700830	51	32411											
WASF3	10810	broad.mit.edu	37	chr13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaattctcttcaagaCagaattgatcgccttgctgt	8	9	2	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	ENST00000335327.5	+	4	391	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.D71E	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	71					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(211-213)gaC>gaG		WAS protein family, member 3							101	93	96					13																	27239244		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27239244C>G	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.213C>G	13.37:g.27239244C>G	ENSP00000335055:p.Asp71Glu					WASF3_ENST00000335327.5_Missense_Mutation_p.D71E|WASF3_ENST00000496788.1_3'UTR	p.D71E			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	4	438	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	71					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.213C>G	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461566	0.26248	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.63096	-0.02;-0.02	5.64	5.64	0.86602	.	0.042673	0.85682	D	0.000000	T	0.38081	0.1027	N	0.02296	-0.605	0.80722	D	1	B;B	0.25667	0.131;0.041	B;B	0.29942	0.109;0.042	T	0.44513	-0.9323	10	0.02654	T	1	-37.7364	19.6999	0.96048	0.0:1.0:0.0:0.0	.	71;71	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	E	71	ENSP00000354325:D71E;ENSP00000335055:D71E	ENSP00000335055:D71E	D	+	3	2	WASF3	26137244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.310000	0.43708	2.659000	0.90383	0.650000	0.86243	GAC		0.408	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			15	42	0	0	0	1	0	15	42					G	27239244	C	G	27239244	3	3	325	1	0	0	0	0	1	0	0	0	17251	477	17	4	219	4	WASF3	13	27239244	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		27239244	87930634	52	32412											
OLFM4	10562	broad.mit.edu	37	chr13	53624246	53624246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggactgtattgggtggcGccattgaatacagatgggag	15	5	0	2	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	ENST00000219022.2	+	5	951	c.873G>A	c.(871-873)gcG>gcA	p.A291A		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	291	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(871-873)gcG>gcA		olfactomedin 4		G		0,4406		0,0,2203	111	100	104		873	-11.8	0.3	13	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OLFM4	NM_006418.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		291/511	53624246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624246G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.873G>A	13.37:g.53624246G>A							p.A291A	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	951	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	291			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.873G>A	CCDS9440.1																																																																																				0.448	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		49	61	0	0	0	1	0	49	61					A	53624246	G	A	53624246	2	1	325	1	0	0	0	0	0	0	0	1	10855	1074	38	1		1	OLFM4	13	53624246	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26385002	53624246	61545632	53	32413											
UGGT2	55757	broad.mit.edu	37	chr13	96592232	96592232	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcttcatcatatttAgaatgaattcccaaaatatc	2	8	4	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	ENST00000376747.3	-	16	1861	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	597					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(1789-1791)tcT>tcC		UDP-glucose glycoprotein glucosyltransferase 2							95	94	94					13																	96592232		2203	4299	6502	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96592232A>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1791T>C	13.37:g.96592232A>G							p.S597S	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			16	1861	-			597					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.1791T>C	CCDS9480.1																																																																																				0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		14	28	0	0	0	1	0	14	28					G	96592232	A	G	96592232	2	3	325	1	0	0	0	0	0	0	0	1	16939	407	15	3		3	UGGT2	13	96592232	Silent	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42967986	96592232	18577646	54	32414											
METT11D1	64745	broad.mit.edu	37	chr14	21458174	21458174	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagccatggcggcggcaCtgaagtgtctactgacatta	13	11	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:21458174C>T	ENST00000339374.6	+	1	246	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	METTL17_ENST00000382985.4_Silent_p.L5L|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000556670.2_Silent_p.L5L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	5					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGCGGCGGCACTGAAGTGTCT	0.617																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(13-15)Ctg>Ttg		methyltransferase like 17							49	56	53					14																	21458174		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458174C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.13C>T	14.37:g.21458174C>T						METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Silent_p.L5L|METTL17_ENST00000556670.2_Silent_p.L5L	p.L5L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			1	246	+			5					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.13C>T	CCDS9562.1																																																																																				0.617	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		48	32	0	0	0	1	0	48	32					T	21458174	C	T	21458174	2	4	325	1	0	0	0	0	0	0	0	1	9491	564	20	2		2	METT11D1	14	21458174	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		21458174	85891366	55	32415											
PELI2	57161	broad.mit.edu	37	chr14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgctcggagaagtctgCaaaatactggtctcagatcc	11	10	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	ENST00000267460.4	+	6	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	378					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(1132-1134)gCa>gGa		pellino E3 ubiquitin protein ligase family member 2							161	141	148					14																	56763754		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763754C>G	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1133C>G	14.37:g.56763754C>G	ENSP00000267460:p.Ala378Gly						p.A378G	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			6	1419	+			378					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.1133C>G	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238166	0.79800	.	.	ENSG00000139946	ENST00000267460	T	0.48522	0.81	5.83	5.83	0.93111	.	0.196791	0.53938	D	0.000056	T	0.58878	0.2153	M	0.78637	2.42	0.53005	D	0.999966	B	0.31413	0.322	B	0.37267	0.245	T	0.61327	-0.7085	10	0.87932	D	0	-23.1154	20.1155	0.97930	0.0:1.0:0.0:0.0	.	378	Q9HAT8	PELI2_HUMAN	G	378	ENSP00000267460:A378G	ENSP00000267460:A378G	A	+	2	0	PELI2	55833507	0.998000	0.40836	0.944000	0.38274	0.972000	0.66771	3.842000	0.55858	2.762000	0.94881	0.555000	0.69702	GCA		0.532	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			39	85	0	0	0	1	0	39	85					G	56763754	C	G	56763754	3	3	325	1	0	0	0	0	1	0	0	0	11722	710	25	4	1155	4	PELI2	14	56763754	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	35305580	56763754	50585786	56	32416											
VPS18	57617	broad.mit.edu	37	chr15	41193149	41193149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgagcatggccaccaccgCgcttgtgtccatgtctacaa	10	15	1	0	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	ENST00000220509.5	+	4	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	711					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)		GCCACCACCGCGCTTGTGTCC	0.632													C|||	13	0.00259585	0.0008	0.0	5008	,	,		19518	0.0		0.0099	False		,,,				2504	0.002					ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2131-2133)cgC>cgT		vacuolar protein sorting 18 homolog (S. cerevisiae)		C		6,4400	11.4+/-27.6	0,6,2197	52	49	50		2133	-10.4	0.8	15	dbSNP_121	50	79,8521	45.8+/-104.6	1,77,4222	no	coding-synonymous	VPS18	NM_020857.2		1,83,6419	TT,TC,CC		0.9186,0.1362,0.6535		711/974	41193149	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41193149C>T	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.2133C>T	15.37:g.41193149C>T						VPS18_ENST00000558474.1_Intron	p.R711R	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2472	+		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)	711					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2133C>T	CCDS10069.1																																																																																				0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			51	12	0	0	0	1	0	51	12					T	41193149	C	T	41193149	2	4	325	1	0	0	0	0	0	0	0	1	17191	755	27	1		1	VPS18	15	41193149	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		41193149	61338243	57	32417											
AP4E1	23431	broad.mit.edu	37	chr15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcttcttataaaattTggaaagatgattgtttattg	8	3	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	ENST00000261842.5	+	18	2909	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	935					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2803-2805)Tgg>Cgg		adaptor-related protein complex 4, epsilon 1 subunit							54	60	58					15																	51289979		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289979T>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2803T>C	15.37:g.51289979T>C	ENSP00000261842:p.Trp935Arg					AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R|AP4E1_ENST00000561397.1_3'UTR	p.W935R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2909	+			935					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2803T>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087421	0.55968	.	.	ENSG00000081014	ENST00000261842	T	0.23552	1.9	5.2	5.2	0.72013	Coatomer, beta subunit, C-terminal (1);	0.320834	0.35903	N	0.002918	T	0.34861	0.0912	L	0.59436	1.845	0.46499	D	0.999078	P	0.42518	0.782	P	0.46585	0.521	T	0.11060	-1.0603	10	0.54805	T	0.06	0.3974	14.2599	0.66078	0.0:0.0:0.0:1.0	.	935	Q9UPM8	AP4E1_HUMAN	R	935	ENSP00000261842:W935R	ENSP00000261842:W935R	W	+	1	0	AP4E1	49077271	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.458000	0.66679	1.966000	0.57179	0.383000	0.25322	TGG		0.308	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			5	23	0	0	0	1	0	5	23					C	51289979	T	C	51289979	3	2	325	1	0	0	0	0	1	0	0	0	752	1812	63	3	2873	3	AP4E1	15	51289979	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	10096830	51289979	51241413	58	32418											
HERC1	8925	broad.mit.edu	37	chr15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaccaaatgttcatgagcCcacctagtccaccagacacc	6	15	1	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	ENST00000443617.2	-	58	11393	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3769					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						GTTCATGAGCCCACCTAGTCC	0.418																																						ENST00000443617.2																			0				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						c.(11305-11307)gGg>gAg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							65	62	63					15																	63935628		1909	4123	6032	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63935628C>T	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.11306G>A	15.37:g.63935628C>T	ENSP00000390158:p.Gly3769Glu						p.G3769E	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			58	11393	-			3769					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.11306G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059150	0.93846	.	.	ENSG00000103657	ENST00000443617	T	0.74209	-0.82	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	U	0.000000	D	0.84206	0.5421	M	0.69248	2.105	0.80722	D	1	D	0.64830	0.994	P	0.62184	0.899	D	0.86109	0.1561	10	0.87932	D	0	.	18.7053	0.91635	0.0:1.0:0.0:0.0	.	3769	Q15751	HERC1_HUMAN	E	3769	ENSP00000390158:G3769E	ENSP00000390158:G3769E	G	-	2	0	HERC1	61722681	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	7.776000	0.85560	2.500000	0.84329	0.563000	0.77884	GGG		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		19	1	0	0	0	1	0	19	1					T	63935628	C	T	63935628	3	4	325	1	0	0	0	0	1	0	0	0	7057	623	22	2	3363	2	HERC1	15	63935628	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	12645649	63935628	38595764	59	32419											
THOC6	79228	broad.mit.edu	37	chr16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatcttctcccagagcGtctcaccatgtgggaagttt	9	12	3	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	ENST00000326266.8	+	2	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|HCFC1R1_ENST00000354679.3_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	32					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	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)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(94-96)Gtc>Atc		THO complex 6 homolog (Drosophila)							121	112	115					16																	3075763		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3075763G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.94G>A	16.37:g.3075763G>A	ENSP00000326531:p.Val32Ile					THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I	p.V32I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			2	390	+			32					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.94G>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340960	0.41498	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.59638	0.25;1.6	5.31	2.15	0.27550	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.243493	0.40222	N	0.001142	T	0.41858	0.1177	L	0.42245	1.32	0.30454	N	0.774991	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.29912	-0.9996	10	0.35671	T	0.21	0.0081	3.7972	0.08744	0.19:0.0:0.4801:0.3299	.	32;32	Q86W42-3;Q86W42	.;THOC6_HUMAN	I	32	ENSP00000326531:V32I;ENSP00000253952:V32I	ENSP00000253952:V32I	V	+	1	0	THOC6	3015764	1.000000	0.71417	0.080000	0.20451	0.974000	0.67602	2.674000	0.46867	0.178000	0.19917	0.561000	0.74099	GTC		0.567	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		20	92	0	0	0	1	0	20	92					A	3075763	G	A	3075763	3	1	325	1	0	0	0	0	1	0	0	0	15866	1145	40	1	100	1	THOC6	16	3075763	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		3075763	87278990	60	32420											
CP110	9738	broad.mit.edu	37	chr16	19547384	19547384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagctttccaagccatacGgaacactctactgcagcaaa	6	12	1	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:19547384G>A	ENST00000381396.5	+	4	640	c.393G>A	c.(391-393)acG>acA	p.T131T	CCP110_ENST00000396212.2_Silent_p.T131T|CCP110_ENST00000396208.2_Silent_p.T131T	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	131	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCCATACGGAACACTCTA	0.388																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(391-393)acG>acA		centriolar coiled coil protein 110kDa							75	75	75					16																	19547384		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547384G>A	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.393G>A	16.37:g.19547384G>A						CCP110_ENST00000396208.2_Silent_p.T131T|CCP110_ENST00000381396.5_Silent_p.T131T	p.T131T	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	829	+			131			CEP97 binding.		B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.393G>A	CCDS55992.1																																																																																				0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		34	24	0	0	0	1	0	34	24					A	19547384	G	A	19547384	2	1	325	1	0	0	0	0	0	0	0	1	3788	1103	39	1		1	CP110	16	19547384	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	16471621	19547384	70807369	61	32421											
RLTPR	146206	broad.mit.edu	37	chr16	67690171	67690171	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggaggcccctcccatctcGatcaagtcccgcacccactc	7	20	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	ENST00000334583.6	+	34	4111	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_ENST00000545661.1_Silent_p.S1225S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1261					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)		CTCCCATCTCGATCAAGTCCC	0.582																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3781-3783)tcG>tcA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							139	138	138					16																	67690171		2042	4188	6230	SO:0001819	synonymous_variant	146206							g.chr16:67690171G>A	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.3783G>A	16.37:g.67690171G>A						RLTPR_ENST00000545661.1_Silent_p.S1225S	p.S1261S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	34	4111	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1261					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.3783G>A	CCDS45513.1																																																																																				0.582	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		11	169	0	0	0	1	0	11	169					A	67690171	G	A	67690171	2	1	325	1	0	0	0	0	0	0	0	1	13394	1045	37	1		1	RLTPR	16	67690171	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	48142787	67690171	22664582	62	32422											
MLKL	197259	broad.mit.edu	37	chr16	74725174	74725174	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccacacaaaacaacttaCgcaatgctgccagcctggag	8	13	0	0	rs144019045		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	ENST00000308807.7	-	4	1186		c.e4+1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18916	0.0		0.0	False		,,,				2504	0.0					ENST00000308807.7																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.e4+1		mixed lineage kinase domain-like		C	,	1,4395	2.1+/-5.4	0,1,2197	226	230	228		,	4.2	0.9	16	dbSNP_134	228	1,8599	1.2+/-3.3	0,1,4299	no	intron,splice-5	MLKL	NM_001142497.1,NM_152649.2	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	,	74725174	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725174C>T	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.722+1G>A	16.37:g.74725174C>T						MLKL_ENST00000306247.7_Intron		NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			4	1186	-									Splice_Site	SNP	ENST00000308807.7	37		CCDS32487.1																																																																																				0.438	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	Intron	132	154	0	0	0	1	0	132	154					T	74725174	C	T	74725174	5	4	325	1	0	0	0	0	0	0	1	0	9619	550	19	1	755	1	MLKL	16	74725174	Splice_Site	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	7035003	74725174	15629579	63	32423											
MYOCD	93649	broad.mit.edu	37	chr17	12655844	12655844	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctctggcaacccagtgccGaactttggggatataacgac	11	11	1	0	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	ENST00000343344.4	+	10	1239	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.P413P|AC005358.1_ENST00000609971.1_Silent_p.P317P			Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P413P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16652	0.0		0.0	False		,,,				2504	0.001					ENST00000425538.1																			2	Substitution - coding silent(2)	p.P413P(2)	lung(2)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1237-1239)ccG>ccA		myocardin		G	,,	12,4394	19.1+/-41.9	0,12,2191	111	103	106		1239,951,1239	-7.7	0.3	17	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_001146313.1,NM_153604.2	,,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,,	413/987,317/685,413/939	12655844	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655844G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1239G>A	17.37:g.12655844G>A						MYOCD_ENST00000395988.1_Silent_p.P317P|MYOCD_ENST00000343344.4_Silent_p.P413P	p.P413P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1439	+			413					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1239G>A	CCDS11163.1																																																																																				0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		55	76	0	0	0	1	0	55	76					A	12655844	G	A	12655844	2	1	325	1	0	0	0	0	0	0	0	1	10087	1045	37	1		1	MYOCD	17	12655844	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		12655844	68539366	64	32424											
TAOK1	57551	broad.mit.edu	37	chr17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagcatgtcatggaagttCgacaacagcctaagagtttg	11	7	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	ENST00000261716.3	+	17	2644	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	709					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2125-2127)Cga>Tga		TAO kinase 1							113	107	109					17																	27849514		2203	4300	6503	SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849514C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2125C>T	17.37:g.27849514C>T	ENSP00000261716:p.Arg709*					TAOK1_ENST00000536202.1_Intron	p.R709*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2644	+			709					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	c.2125C>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	45	11.633693	0.99585	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.81	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1714	0.72875	0.2571:0.7428:0.0:0.0	.	.	.	.	X	709	.	ENSP00000261716:R709X	R	+	1	2	TAOK1	24873640	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.055000	0.71103	1.441000	0.47550	-0.195000	0.12781	CGA		0.398	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		52	71	0	0	0	1	0	52	71					T	27849514	C	T	27849514	4	4	325	1	0	0	0	0	0	1	0	0	15544	876	31	1	2187	1	TAOK1	17	27849514	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15193670	27849514	53345696	65	32425											
SYNRG	11276	broad.mit.edu	37	chr17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctagaccagaatattccCcaaaaaggctgaattctcca	7	11	1	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	ENST00000339208.6	-	14	2170	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	677	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2029-2031)gGg>gAg		synergin, gamma							53	53	53					17																	35913795		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913795C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2030G>A	17.37:g.35913795C>T	ENSP00000343610:p.Gly677Glu					SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E	p.G677E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2170	-			677			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2030G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070651	0.55539	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.54675	1.26;0.56;0.66;0.69	6.08	6.08	0.98989	.	0.110651	0.64402	D	0.000007	T	0.67933	0.2946	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	0.965;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.81914	0.69;0.995;0.995;0.995;0.992;0.992	T	0.68682	-0.5344	10	0.72032	D	0.01	-11.0266	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	516;599;599;599;677;677	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	E	677;516;677;599;599	ENSP00000005279:G677E;ENSP00000315722:G677E;ENSP00000424893:G599E;ENSP00000377903:G599E	ENSP00000343610:G516E	G	-	2	0	SYNRG	32987908	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.474000	0.60203	2.894000	0.99253	0.655000	0.94253	GGG		0.433	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		39	58	0	0	0	1	0	39	58					T	35913795	C	T	35913795	3	4	325	1	0	0	0	0	1	0	0	0	15457	623	22	2	2023	2	SYNRG	17	35913795	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	8064281	35913795	45281415	66	32426											
KRT38	8687	broad.mit.edu	37	chr17	39595476	39595476	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgtggttgctcttgagGgagagctgctcctccttcag	13	11	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	ENST00000246646.3	-	3	710	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	237	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(709-711)tcC>tcG		keratin 38							54	49	51					17																	39595476		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39595476G>C	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.711C>G	17.37:g.39595476G>C							p.S237S	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			3	710	-		Breast(137;0.000496)	237			Coil 1B.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.711C>G	CCDS11392.1																																																																																				0.657	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		30	40	0	0	0	1	0	30	40					C	39595476	G	C	39595476	2	2	325	1	0	0	0	0	0	0	0	1	8475	1219	43	4		4	KRT38	17	39595476	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	3681681	39595476	41599734	67	32427											
MUC16	94025	broad.mit.edu	37	chr19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttgctccagaggtgggtGtagttggggtctgtggtgaa	18	4	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	ENST00000397910.4	-	1	7942	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2580	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)				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						AGAGGTGGGTGTAGTTGGGGT	0.483																																						ENST00000397910.4																			0				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						c.(7738-7740)aCa>aAa		mucin 16, cell surface associated							176	172	173					19																	9084076		1976	4165	6141	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084076G>T	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.7739C>A	19.37:g.9084076G>T	ENSP00000381008:p.Thr2580Lys						p.T2580K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	7942	-			2580			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7739C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.542	-0.306094	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2580	B5ME49	.	K	2580	ENSP00000381008:T2580K	ENSP00000381008:T2580K	T	-	2	0	MUC16	8945076	0.082000	0.21442	0.120000	0.21714	0.123000	0.20343	0.037000	0.13840	0.300000	0.22699	0.305000	0.20034	ACA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	120	1	0	1.15088e-07	1	1.20504e-07	15	120					T	9084076	G	T	9084076	3	4	325	1	0	0	0	0	1	0	0	0	9973	1377	48	4	36120	4	MUC16	19	9084076	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		9084076	50044907	68	32428											
CRTC1	23373	broad.mit.edu	37	chr19	18879357	18879357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgccttcttcacccaggcGggctcccagcagccaccgcc	9	20	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	ENST00000321949.8	+	10	1100	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	CRTC1_ENST00000594658.1_Silent_p.A317A|CRTC1_ENST00000338797.6_Silent_p.A374A|CRTC1_ENST00000601916.1_Intron	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						TCACCCAGGCGGGCTCCCAGC	0.751																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1120-1122)gcG>gcA		CREB regulated transcription coactivator 1							6	8	7					19																	18879357		1998	3958	5956	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18879357G>A	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		ENST00000321949.8:c.1074G>A	19.37:g.18879357G>A						CRTC1_ENST00000321949.8_Silent_p.A358A|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Silent_p.A317A	p.A374A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			11	1147	+			358						Silent	SNP	ENST00000321949.8	37	c.1122G>A	CCDS32963.1																																																																																				0.751	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		8	17	0	0	0	1	0	8	17					A	18879357	G	A	18879357	2	1	325	1	0	0	0	0	0	0	0	1	3899	1103	39	1		1	CRTC1	19	18879357	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	9795281	18879357	40249626	69	32429											
CIC	23152	broad.mit.edu	37	chr19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C													agtctgtaccctccgccccaINSccccccaaaggtgagacctg							TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	ENST00000575354.2	+	10	2728_2729	c.2688_2689insC	c.(2689-2691)cccfs	p.P897fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.P897fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.P1806fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	897	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)				CCTCCGCCCCACCCCCCAAAGG	0.609			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5413-5418)ccccccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795608_42795609insC	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.2694dupC	19.37:g.42795614_42795614dupC	ENSP00000458663:p.Pro897fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.PP896fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.PP896fs	p.PP1805fs			Q96RK0	CIC_HUMAN			11	5483_5484	+		Prostate(69;0.00682)	896					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5415_5416insC	CCDS12601.1																																																																																				0.609	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			88	17						88	17	---	---	---	---	C	42795609	-	C	42795608	7	5	325	1	0	1	1	0	0	0	0	0	3424	146	6	0	2726	0	CIC	19	42795608	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	23916251	42795608	16333375	70	32430											
COX4I2	84701	broad.mit.edu	37	chr20	30231298	30231298	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtgtcttcttcttcatTggattcgcagctctggtgat	11	8	5	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	ENST00000376075.3	+	4	414	c.339T>C	c.(337-339)atT>atC	p.I113I	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	113					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(337-339)atT>atC		cytochrome c oxidase subunit IV isoform 2 (lung)							219	176	191					20																	30231298		2203	4300	6503	SO:0001819	synonymous_variant	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30231298T>C	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.339T>C	20.37:g.30231298T>C						COX4I2_ENST00000490030.1_Intron	p.I113I	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		4	414	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		113					Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	c.339T>C	CCDS13187.1																																																																																				0.562	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		26	93	0	0	0	1	0	26	93					C	30231298	T	C	30231298	2	2	325	1	0	0	0	0	0	0	0	1	3770	1800	63	3		3	COX4I2	20	30231298	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08		30231298	32794222	71	32431											
CRYBB3	1417	broad.mit.edu	37	chr22	25603098	25603098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccactggaatgagtgggaCgccagccagccgcagctgca	14	14	0	1	rs140985147		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:25603098C>T	ENST00000215855.2	+	6	635	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	185	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						ATGAGTGGGACGCCAGCCAGC	0.652																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(553-555)gaC>gaT		crystallin, beta B3		C		1,4403		0,1,2201	34	35	35		555	-3.3	1	22	dbSNP_134	35	0,8596		0,0,4298	no	coding-synonymous	CRYBB3	NM_004076.3		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		185/212	25603098	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25603098C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.555C>T	22.37:g.25603098C>T						CRYBB3_ENST00000404334.1_3'UTR	p.D185D	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			6	635	+			185			Beta/gamma crystallin 'Greek key' 4.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.555C>T	CCDS13830.1																																																																																				0.652	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		6	69	0	0	0	1	0	6	69					T	25603098	C	T	25603098	2	4	325	1	0	0	0	0	0	0	0	1	3912	535	19	1		1	CRYBB3	22	25603098	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		25603098	25701468	72	32432											
ACE2	59272	broad.mit.edu	37	chrX	15609937	15609937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttcccaagcccagagcCtctcattgtagtctaaactg	7	13	2	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chrX:15609937C>T	ENST00000252519.3	-	4	584	c.482G>A	c.(481-483)aGg>aAg	p.R161K	ACE2_ENST00000427411.1_Missense_Mutation_p.R161K			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	161					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGCCCAGAGCCTCTCATTGTA	0.398																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(481-483)aGg>aAg		angiotensin I converting enzyme 2	Moexipril(DB00691)						196	192	194					X																	15609937		2203	4299	6502	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15609937C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.482G>A	X.37:g.15609937C>T	ENSP00000252519:p.Arg161Lys					ACE2_ENST00000252519.3_Missense_Mutation_p.R161K	p.R161K	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			5	698	-	Hepatocellular(33;0.183)		161					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.482G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639858	0.47153	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.32515	1.45;1.45	6.14	5.27	0.74061	.	0.047761	0.85682	N	0.000000	T	0.52757	0.1754	M	0.68593	2.085	0.29141	N	0.878991	P	0.39391	0.671	P	0.58780	0.845	T	0.54132	-0.8339	10	0.56958	D	0.05	-18.08	14.4186	0.67168	0.0:0.9283:0.0:0.0717	.	161	Q9BYF1	ACE2_HUMAN	K	161	ENSP00000252519:R161K;ENSP00000389326:R161K	ENSP00000252519:R161K	R	-	2	0	ACE2	15519858	1.000000	0.71417	0.978000	0.43139	0.673000	0.39480	4.181000	0.58303	1.345000	0.45676	0.596000	0.82720	AGG		0.398	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			6	277	0	0	0	1	0	6	277					T	15609937	C	T	15609937	3	4	325	1	0	0	0	0	1	0	0	0	137	681	24	2	1995	2	ACE2	23	15609937	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		15609937	139660623	73	32433											
HMCN1	83872	broad.mit.edu	37	chr1	186084409	186084409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctccatctattgctccGggtcctaccaacatgactgt	7	14	1	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr1:186084409G>A	ENST00000271588.4	+	75	11653	c.11424G>A	c.(11422-11424)ccG>ccA	p.P3808P	HMCN1_ENST00000367492.2_Silent_p.P3808P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3808	Ig-like C2-type 37.				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						CTATTGCTCCGGGTCCTACCA	0.398																																						ENST00000271588.4																			0				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						c.(11422-11424)ccG>ccA		hemicentin 1							174	161	166					1																	186084409		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084409G>A	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.11424G>A	1.37:g.186084409G>A						HMCN1_ENST00000367492.2_Silent_p.P3808P	p.P3808P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			75	11653	+			3808			Ig-like C2-type 37.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.11424G>A	CCDS30956.1																																																																																				0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	94	0	0	0	1	0	11	94					A	186084409	G	A	186084409	2	1	326	1	0	0	0	0	0	0	0	1	7220	1103	39	1		1	HMCN1	1	186084409	Silent	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		186084409	63166212	1	32434											
GALNT14	79623	broad.mit.edu	37	chr2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccccgaatccgggacCggaccagacctgcagtcagg	13	16	1	1	rs200913085		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	181	Catalytic subdomain A.				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)					AATCCGGGACCGGACCAGACC	0.602																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(541-543)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							59	59	59					2																	31178596		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31178596C>T	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.542G>A	2.37:g.31178596C>T	ENSP00000288988:p.Arg181Gln					GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q	p.R181Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			6	1181	-	Acute lymphoblastic leukemia(172;0.155)		181			Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.542G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	36	5.935953	0.97122	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	5.61	5.61	0.85477	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.86953	2.85	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;0.996;0.998;1.0;0.998	D	0.85433	0.1150	10	0.87932	D	0	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	146;146;148;186;181;161	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	Q	181;186;161;148;146;148	ENSP00000288988:R181Q;ENSP00000314500:R186Q;ENSP00000385435:R161Q;ENSP00000348497:R148Q;ENSP00000415514:R146Q;ENSP00000406399:R148Q	ENSP00000314500:R186Q	R	-	2	0	GALNT14	31032100	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.428000	0.80296	2.656000	0.90262	0.561000	0.74099	CGG		0.602	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		10	89	0	0	0	1	0	10	89					T	31178596	C	T	31178596	3	4	326	1	0	0	0	0	1	0	0	0	6212	652	23	1	1156	1	GALNT14	2	31178596	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		31178596	212020777	2	32435											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	66	0	0	0	1	0	5	66					T	209113112	C	T	209113112	3	4	326	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	177934516	209113112	34086261	3	32436											
CEP72	55722	broad.mit.edu	37	chr5	620298	620298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcgtggatgtggacttcCggctgaaccccgtggtgaag	15	10	0	2	rs148249239		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:620298C>T	ENST00000264935.5	+	3	415	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CEP72_ENST00000444221.1_Missense_Mutation_p.R109W	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	109					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)			TGTGGACTTCCGGCTGAACCC	0.572																																						ENST00000264935.5																			0				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						c.(325-327)Cgg>Tgg		centrosomal protein 72kDa		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	141	119	127		325	3.9	0.9	5	dbSNP_134	127	0,8600		0,0,4300	no	missense	CEP72	NM_018140.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	109/648	620298	1,13005	2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:620298C>T	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.325C>T	5.37:g.620298C>T	ENSP00000264935:p.Arg109Trp					CEP72_ENST00000444221.1_Missense_Mutation_p.R109W	p.R109W	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		3	415	+			109					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.325C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750130	0.49257	2.27E-4	0.0	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.25085	1.82;1.82	4.81	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.80183	2.485	0.41209	D	0.986429	D	0.89917	1.0	D	0.91635	0.999	T	0.54510	-0.8283	10	0.72032	D	0.01	-34.1059	10.4488	0.44509	0.3522:0.6478:0.0:0.0	.	109	Q9P209	CEP72_HUMAN	W	109	ENSP00000264935:R109W;ENSP00000392052:R109W	ENSP00000264935:R109W	R	+	1	2	CEP72	673298	0.941000	0.31946	0.917000	0.36280	0.355000	0.29361	1.787000	0.38704	1.081000	0.41110	0.462000	0.41574	CGG		0.572	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		4	111	0	0	0	1	0	4	111					T	620298	C	T	620298	3	4	326	1	0	0	0	0	1	0	0	0	3260	643	23	1	335	1	CEP72	5	620298	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		620298	180294962	4	32437											
GHR	2690	broad.mit.edu	37	chr5	42699991	42699991	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttaactgggattcatGcagatatccaagtgagatgg	11	6	2	2			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:42699991G>T	ENST00000230882.4	+	6	695	c.505G>T	c.(505-507)Gca>Tca	p.A169S	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.A147S	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	169	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	TGGGATTCATGCAGATATCCA	0.428																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(505-507)Gca>Tca		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						137	117	124					5																	42699991		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42699991G>T		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.505G>T	5.37:g.42699991G>T	ENSP00000230882:p.Ala169Ser					GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.A147S	p.A169S	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			6	695	+		Myeloproliferative disorder(839;0.00878)	169			Fibronectin type-III.		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.505G>T	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952873	0.73787	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.94232	-3.38;-3.38	5.91	5.91	0.95273	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.360599	0.30347	N	0.009823	D	0.91489	0.7313	L	0.48642	1.525	0.80722	D	1	B	0.31318	0.319	B	0.38616	0.277	D	0.88052	0.2788	10	0.23302	T	0.38	-4.8065	14.4562	0.67418	0.0699:0.0:0.9301:0.0	.	169	P10912	GHR_HUMAN	S	169;147;169	ENSP00000230882:A169S;ENSP00000350335:A147S	ENSP00000230882:A169S	A	+	1	0	GHR	42735748	1.000000	0.71417	0.493000	0.27502	0.984000	0.73092	5.629000	0.67798	2.791000	0.96007	0.655000	0.94253	GCA		0.428	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		8	63	1	0	0.000274275	1	0.000287989	8	63					T	42699991	G	T	42699991	3	4	326	1	0	0	0	0	1	0	0	0	6371	1319	46	4	523	4	GHR	5	42699991	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08	42079693	42699991	138215269	5	32438											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201287	138201287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggagggaatgCggcacccttggaagcaccat	15	12	0	0			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with TNIP1. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|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 interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		26	Whole gene deletion(25)|Complex - frameshift(1)	p.0?(25)|p.C662fs*36(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1984-1986)tgC>tgT		tumor necrosis factor, alpha-induced protein 3							98	89	92					6																	138201287		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138201287C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1986C>T	6.37:g.138201287C>T							p.C662C	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	8	2052	+	Breast(32;0.135)|Colorectal(23;0.24)		662			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1986C>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130355	0.21041	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	-6.69	0.01772	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75895	-0.3156	5	0.87932	D	0	-17.8663	16.8377	0.85961	0.0:0.595:0.0:0.405	.	.	.	.	W	662	.	ENSP00000442207:R662W	R	+	1	2	TNFAIP3	138242980	0.008000	0.16893	0.185000	0.23176	0.928000	0.56348	-1.071000	0.03437	-1.541000	0.01727	-0.302000	0.09304	CGG		0.502	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			4	75	0	0	0	1	0	4	75					T	138201287	C	T	138201287	2	4	326	1	0	0	0	0	0	0	0	1	16271	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		138201287	32913780	6	32439											
POLR3A	11128	broad.mit.edu	37	chr10	79777419	79777419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggtgtctctctacgaTgtcaccatacttgagctctt	9	10	4	2			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr10:79777419T>C	ENST00000372371.3	-	10	1482	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	449					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)			CTCTCTACGATGTCACCATAC	0.448																																						ENST00000372371.3																			0				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						c.(1345-1347)Atc>Gtc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							183	161	168					10																	79777419		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79777419T>C	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.1345A>G	10.37:g.79777419T>C	ENSP00000361446:p.Ile449Val					POLR3A_ENST00000484760.1_5'UTR	p.I449V	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		10	1482	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		449					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1345A>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	6.170	0.399524	0.11696	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68025	-0.3	5.9	2.25	0.28309	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.199336	0.53938	N	0.000060	T	0.43500	0.1250	N	0.12422	0.21	0.39559	D	0.9691	B	0.09022	0.002	B	0.15870	0.014	T	0.13629	-1.0502	9	.	.	.	-12.8084	9.91	0.41399	0.0:0.1914:0.0:0.8086	.	449	O14802	RPC1_HUMAN	V	449	ENSP00000361446:I449V	.	I	-	1	0	POLR3A	79447425	1.000000	0.71417	0.852000	0.33557	0.971000	0.66376	1.862000	0.39448	0.132000	0.18615	0.528000	0.53228	ATC		0.448	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		14	82	0	0	0	1	0	14	82					C	79777419	T	C	79777419	3	2	326	1	0	0	0	0	1	0	0	0	12228	1464	51	3	2915	3	POLR3A	10	79777419	Missense_Mutation	SNP	T	TCGA-HT-A61A-01A-11D-A29Q-08		79777419	55757328	7	32440											
LTBP3	4054	broad.mit.edu	37	chr11	65306608	65306608	+	Frame_Shift_Del	DEL	T	T	-													cggctgcgcgcgaagccggcTttgcagacgcagcggaagga							TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr11:65306608delT	ENST00000301873.5	-	28	4123	c.3855delA	c.(3853-3855)aaafs	p.K1285fs	LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1285	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGAAGCCGGCTTTGCAGACGC	0.706																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(3853-3855)aafs		latent transforming growth factor beta binding protein 3							3	3	3					11																	65306608		1816	3498	5314	SO:0001589	frameshift_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65306608delT	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3855delA	11.37:g.65306608delT	ENSP00000301873:p.Lys1285fs					LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs	p.K1285fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			28	4123	-			1285			EGF-like 13; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Del	DEL	ENST00000301873.5	37	c.3855delA	CCDS44647.1																																																																																				0.706	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		2	4						2	4	---	---	---	---	-	65306608	T	-	65306608	7	5	326	1	0	1	0	1	0	0	0	0	9075	1606	56	0	60	0	LTBP3	11	65306608	Frame_Shift_Del	DEL	T	TCGA-HT-A61A-01A-11D-A29Q-08		65306608	69699908	8	32441											
BRCA2	675	broad.mit.edu	37	chr13	32907165	32907165	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcacctaaagagactttcaAtgcaagtttttcaggtcata	6	8	4	1	rs80358439		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr13:32907165A>G	ENST00000380152.3	+	10	1783	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	BRCA2_ENST00000544455.1_Missense_Mutation_p.N517S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	517					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|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)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGACTTTCAATGCAAGTTTT	0.373			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1549-1551)aAt>aGt	Homologous recombination	breast cancer 2, early onset							72	80	77					13																	32907165		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907165A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1550A>G	13.37:g.32907165A>G	ENSP00000369497:p.Asn517Ser	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N517S	p.N517S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1777	+		Lung SC(185;0.0262)	517					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1550A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.048524	0.00394	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00653	5.96;5.96	5.35	-2.85	0.05734	.	1.375650	0.04183	N	0.326941	T	0.00384	0.0012	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46091	-0.9216	10	0.06625	T	0.88	.	12.6549	0.56782	0.5378:0.0:0.4622:0.0	.	517;517	P51587;A1YBP1	BRCA2_HUMAN;.	S	517;517;515	ENSP00000369497:N517S;ENSP00000439902:N517S	ENSP00000369497:N517S	N	+	2	0	BRCA2	31805165	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.147000	0.10234	-0.610000	0.05716	-0.783000	0.03347	AAT		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		10	119	0	0	0	1	0	10	119					G	32907165	A	G	32907165	3	3	326	1	0	0	0	0	1	0	0	0	1499	101	4	3	1584	3	BRCA2	13	32907165	Missense_Mutation	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		32907165	82262713	9	32442											
ALDH6A1	4329	broad.mit.edu	37	chr14	74535667	74535667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctttgatgtccggatgatCgcaaataaaatttacagctt	8	7	0	2			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr14:74535667C>A	ENST00000553458.1	-	7	846	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank|ALDH6A1_ENST00000555126.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	250					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		TCCGGATGATCGCAAATAAAA	0.418																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(748-750)Gat>Tat		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						63	60	61					14																	74535667		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74535667C>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.748G>T	14.37:g.74535667C>A	ENSP00000450436:p.Asp250Tyr					CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|ALDH6A1_ENST00000555126.1_5'UTR|AC005484.5_ENST00000492026.1_RNA	p.D250Y	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	7	846	-			250					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.748G>T	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200179	0.79015	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	D;D	0.91180	-2.8;-2.8	5.98	5.1	0.69264	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	M	0.92122	3.275	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.70016	0.967;0.967	D	0.97112	0.9805	10	0.87932	D	0	.	15.2548	0.73576	0.0:0.9331:0.0:0.0669	.	237;250	B4DFS8;Q02252	.;MMSA_HUMAN	Y	250;237	ENSP00000450436:D250Y;ENSP00000342564:D237Y	ENSP00000342564:D250Y	D	-	1	0	ALDH6A1	73605420	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.812000	0.86109	1.541000	0.49316	-0.145000	0.13849	GAT		0.418	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			5	27	1	0	0.014758	1	0.014758	5	27					A	74535667	C	A	74535667	3	1	326	1	0	0	0	0	1	0	0	0	503	884	31	4	883	4	ALDH6A1	14	74535667	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		74535667	32813873	10	32443											
SPG11	80208	broad.mit.edu	37	chr15	44858098	44858098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagtccatcagcttgtggCggcccaagttgatgagcatt	11	10	1	2	rs373233936		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr15:44858098C>T	ENST00000261866.7	-	38	6969	c.6953G>A	c.(6952-6954)cGc>cAc	p.R2318H	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2318					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)		CAGCTTGTGGCGGCCCAAGTT	0.527																																						ENST00000261866.7																			0				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						c.(6952-6954)cGc>cAc		spastic paraplegia 11 (autosomal recessive)							54	39	44					15																	44858098		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858098C>T		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.6953G>A	15.37:g.44858098C>T	ENSP00000261866:p.Arg2318His					SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H|SPG11_ENST00000427534.2_Intron	p.R2318H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		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)	38	6969	-		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)	2318					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6953G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	6.893	0.534177	0.13188	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.78364	-1.17;-0.88	5.86	1.32	0.21799	.	0.465487	0.22272	N	0.062249	T	0.62720	0.2451	L	0.39566	1.225	0.09310	N	0.999995	B;B;B	0.29627	0.017;0.252;0.252	B;B;B	0.23716	0.016;0.048;0.048	T	0.45145	-0.9281	10	0.19147	T	0.46	.	8.498	0.33141	0.0:0.6559:0.0:0.3441	.	2205;2318;2318	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	H	2318;2205	ENSP00000261866:R2318H;ENSP00000445278:R2205H	ENSP00000261866:R2318H	R	-	2	0	SPG11	42645390	0.995000	0.38212	0.864000	0.33941	0.096000	0.18686	2.348000	0.44045	0.050000	0.15949	-0.142000	0.14014	CGC		0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			3	34	0	0	0	1	0	3	34					T	44858098	C	T	44858098	3	4	326	1	0	0	0	0	1	0	0	0	15040	768	27	1	390	1	SPG11	15	44858098	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		44858098	57673294	11	32444											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445773	4445773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcacctgatgacggggccGcaccgggcccgtgatatgct	13	14	1	3	rs369018364		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:4445773G>A	ENST00000254718.4	-	22	3379	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1025					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGACGGGGCCGCACCGGGCCC	0.617																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3073-3075)Cgg>Tgg		MYB binding protein (P160) 1a		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70	79	76		3073,3073	3.2	0.5	17		76	0,8600		0,0,4300	no	missense,missense	MYBBP1A	NM_001105538.1,NM_014520.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1025/1333,1025/1329	4445773	1,13005	2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445773G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3073C>T	17.37:g.4445773G>A	ENSP00000254718:p.Arg1025Trp					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W	p.R1025W			Q9BQG0	MBB1A_HUMAN			22	3379	-			1025					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3073C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165834	0.38217	2.27E-4	0.0	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68331	-0.32;-0.32	5.3	3.25	0.37280	Armadillo-type fold (1);	0.054052	0.64402	D	0.000001	T	0.77579	0.4151	M	0.67953	2.075	0.38604	D	0.950742	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77832	-0.2441	10	0.49607	T	0.09	-39.9853	10.7458	0.46179	0.0:0.0:0.6537:0.3463	.	1025;1025	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	W	1025	ENSP00000370968:R1025W;ENSP00000254718:R1025W	ENSP00000254718:R1025W	R	-	1	2	MYBBP1A	4392522	0.575000	0.26692	0.542000	0.28115	0.003000	0.03518	1.047000	0.30367	0.578000	0.29487	0.561000	0.74099	CGG		0.617	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	132	0	0	0	1	0	4	132					A	4445773	G	A	4445773	3	1	326	1	0	0	0	0	1	0	0	0	10008	1086	38	1	973	1	MYBBP1A	17	4445773	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		4445773	76749437	12	32445											
EPN2	22905	broad.mit.edu	37	chr17	19213263	19213263	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agactagtggagaagaggagCttcagctgcagctggcactt	14	8	1	3			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:19213263C>G	ENST00000314728.5	+	5	1316	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	EPN2_ENST00000395620.2_Missense_Mutation_p.L221V|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	278					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)					AGAAGAGGAGCTTCAGCTGCA	0.597																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(832-834)Ctt>Gtt		epsin 2							60	58	58					17																	19213263		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19213263C>G	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.832C>G	17.37:g.19213263C>G	ENSP00000320543:p.Leu278Val					EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V|EPN2_ENST00000395620.2_Missense_Mutation_p.L221V|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V	p.L278V	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			5	1316	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		278					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.832C>G	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094723	0.76870	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.45668	2.19;1.92;1.2;2.19;0.89	5.52	4.56	0.56223	Ubiquitin interacting motif (2);	0.331941	0.32430	N	0.006114	T	0.62708	0.2450	M	0.82823	2.61	0.54753	D	0.99998	D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.998;0.998;0.999	D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.99;0.996;0.998	T	0.62613	-0.6817	10	0.23891	T	0.37	-15.02	10.3009	0.43653	0.0:0.8502:0.0:0.1498	.	221;221;278;221;221;278	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	V	221;278;221;221;278	ENSP00000261495:L221V;ENSP00000320543:L278V;ENSP00000378990:L221V;ENSP00000378982:L221V;ENSP00000378988:L278V	ENSP00000320543:L278V	L	+	1	0	EPN2	19153856	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.950000	0.56676	1.335000	0.45486	0.655000	0.94253	CTT		0.597	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		9	104	0	0	0	1	0	9	104					G	19213263	C	G	19213263	3	3	326	1	0	0	0	0	1	0	0	0	5186	797	28	4	842	4	EPN2	17	19213263	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	14767490	19213263	61981947	13	32446											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704284	56704284	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagctgaacatcctgaaAttcatgtgccaagtctcagg	11	10	2	2			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr19:56704284A>G	ENST00000586855.2	-	2	451	c.138T>C	c.(136-138)aaT>aaC	p.N46N	ZSCAN5B_ENST00000358992.3_Silent_p.N46N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	46	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)	p.N46N(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATCCTGAAATTCATGTGCC	0.577																																						ENST00000586855.2																			2	Substitution - coding silent(2)	p.N46N(2)	prostate(2)	breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(136-138)aaT>aaC		zinc finger and SCAN domain containing 5B							51	49	50					19																	56704284		2203	4300	6503	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704284A>G		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.138T>C	19.37:g.56704284A>G						ZSCAN5B_ENST00000358992.3_Silent_p.N46N	p.N46N			A6NJL1	ZSA5B_HUMAN			2	451	-			46			SCAN box.			Silent	SNP	ENST00000586855.2	37	c.138T>C	CCDS46203.1																																																																																				0.577	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		3	36	0	0	0	1	0	3	36					G	56704284	A	G	56704284	2	3	326	1	0	0	0	0	0	0	0	1	18236	98	4	3		3	ZSCAN5B	19	56704284	Silent	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		56704284	2424699	14	32447											
FTCD	10841	broad.mit.edu	37	chr21	47572855	47572855	+	Frame_Shift_Del	DEL	A	A	-													tcctctgccagcctctggccAaaggcctgggcgcagagcac							TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr21:47572855delA	ENST00000291670.5	-	3	376	c.333delT	c.(331-333)tttfs	p.F111fs	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397748.1_Frame_Shift_Del_p.F111fs|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	111	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GCCTCTGGCCAAAGGCCTGGG	0.672																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(331-333)ttfs		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						12	13	13					21																	47572855		2165	4252	6417	SO:0001589	frameshift_variant	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47572855delA	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.333delT	21.37:g.47572855delA	ENSP00000291670:p.Phe111fs					FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Frame_Shift_Del_p.F111fs|FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs	p.F111fs			O95954	FTCD_HUMAN		Colorectal(79;0.235)	3	376	-	Breast(49;0.214)		111			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Frame_Shift_Del	DEL	ENST00000291670.5	37	c.333delT	CCDS13731.1																																																																																				0.672	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		2	4						2	4	---	---	---	---	-	47572855	A	-	47572855	7	5	326	1	0	1	0	1	0	0	0	0	6081	127	5	0	1340	0	FTCD	21	47572855	Frame_Shift_Del	DEL	A	TCGA-HT-A61A-01A-11D-A29Q-08		47572855	557040	15	32448											
MEGF6	1953	broad.mit.edu	37	chr1	3428609	3428609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcccagctcatagcccgCgtgacacacgcacttgaagg	12	15	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:3428609C>A	ENST00000356575.4	-	8	1163	c.937G>T	c.(937-939)Gcg>Tcg	p.A313S	MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	313	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		A -> V (in dbSNP:rs11585362).			extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCATAGCCCGCGTGACACACG	0.667																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(937-939)Gcg>Tcg		multiple EGF-like-domains 6							50	60	56					1																	3428609		2121	4214	6335	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3428609C>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.937G>T	1.37:g.3428609C>A	ENSP00000348982:p.Ala313Ser					MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	p.A313S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1163	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	313		A -> V (in dbSNP:rs11585362).	EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.937G>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840412	0.16891	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91843	-2.92;-2.92	4.63	1.57	0.23409	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.130150	0.51477	D	0.000097	D	0.83755	0.5323	L	0.28740	0.885	0.09310	N	1	P;P	0.47484	0.896;0.79	B;B	0.42593	0.392;0.33	T	0.74797	-0.3543	10	0.22109	T	0.4	-5.9456	6.0623	0.19844	0.0:0.406:0.3764:0.2176	.	313;208	O75095;O75095-2	MEGF6_HUMAN;.	S	208;313	ENSP00000294599:A208S;ENSP00000348982:A313S	ENSP00000294599:A208S	A	-	1	0	MEGF6	3418469	0.067000	0.21026	0.013000	0.15412	0.035000	0.12851	0.326000	0.19646	0.387000	0.25024	-0.332000	0.08345	GCG		0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		70	72	1	0	3.89499e-28	1	4.20411e-28	70	72					A	3428609	C	A	3428609	3	1	327	1	0	0	0	0	1	0	0	0	9462	768	27	4	3808	4	MEGF6	1	3428609	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		3428609	245822012	1	32449											
FAM43B	163933	broad.mit.edu	37	chr1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-													gcagcatccaggaggaggacGaggaggaggaggaggacgac							TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(802-804)del		family with sequence similarity 43, member B				121,39,3262		29,0,63,5,29,1585						-0.4	1			5	4,54,6868		0,0,4,2,50,3407	no	codingComplex	FAM43B	NM_207334.2		29,0,67,7,79,4992	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8374,4.6756,2.1067				125,93,10130				SO:0001651	inframe_deletion	163933							g.chr1:20880268_20880270delGAG	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.802_804delGAG	1.37:g.20880277_20880279delGAG	ENSP00000331397:p.Glu272del						p.E272del	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	1337_1339	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	272					A5PKT8|A5PL01	In_Frame_Del	DEL	ENST00000332947.4	37	c.802_804delGAG	CCDS209.1																																																																																				0.744	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		3	4						3	4	---	---	---	---	-	20880270	GAG	-	20880268	7	5	327	1	0	1	0	1	0	0	0	0	5563	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-HT-A61B-01A-11D-A29Q-08	17451659	20880268	228370353	2	32450											
KCNA2	3737	broad.mit.edu	37	chr1	111146564	111146564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgctggccttgctgagCgtcctctggcttctcagcca	12	15	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:111146564C>T	ENST00000485317.1	-	3	1514	c.841G>A	c.(841-843)Gct>Act	p.A281T	KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.A281T|KCNA2_ENST00000369770.3_Missense_Mutation_p.A281T|KCNA2_ENST00000440270.1_Missense_Mutation_p.A281T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	281					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)	CCTTGCTGAGCGTCCTCTGGC	0.522																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(841-843)Gct>Act		potassium voltage-gated channel, shaker-related subfamily, member 2							103	103	103					1																	111146564		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146564C>T	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.841G>A	1.37:g.111146564C>T	ENSP00000433109:p.Ala281Thr					KCNA2_ENST00000316361.4_Missense_Mutation_p.A281T|KCNA2_ENST00000369770.3_Missense_Mutation_p.A281T|KCNA2_ENST00000440270.1_Missense_Mutation_p.A281T	p.A281T			P16389	KCNA2_HUMAN		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)	3	1514	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	281					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.841G>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166148	0.21621	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96587	-1.31;-4.06;-4.06;-4.06	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.40302	N	0.001121	D	0.86167	0.5868	N	0.04090	-0.28	0.42210	D	0.991801	B;B	0.25206	0.12;0.0	B;B	0.18263	0.021;0.0	T	0.82686	-0.0334	10	0.20519	T	0.43	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	281;281	Q86XG6;P16389	.;KCNA2_HUMAN	T	281	ENSP00000358785:A281T;ENSP00000433109:A281T;ENSP00000415257:A281T;ENSP00000314520:A281T	ENSP00000314520:A281T	A	-	1	0	KCNA2	110948087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.568000	0.60857	2.785000	0.95823	0.655000	0.94253	GCT		0.522	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		6	174	0	0	0	1	0	6	174					T	111146564	C	T	111146564	3	4	327	1	0	0	0	0	1	0	0	0	8003	768	27	1	662	1	KCNA2	1	111146564	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	90266296	111146564	138104057	3	32451											
IPO9	55705	broad.mit.edu	37	chr1	201841994	201841994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccagcatggcatcaAtgcagatgacaaacggctac	10	12	1	2	rs141172151		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:201841994A>G	ENST00000361565.4	+	20	2684	c.2615A>G	c.(2614-2616)aAt>aGt	p.N872S		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	872					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						CATGGCATCAATGCAGATGAC	0.527																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2614-2616)aAt>aGt		importin 9		A	SER/ASN	0,4406		0,0,2203	101	99	100		2615	2.9	1	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPO9	NM_018085.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	872/1042	201841994	1,13005	2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201841994A>G	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.2615A>G	1.37:g.201841994A>G	ENSP00000354742:p.Asn872Ser						p.N872S	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			20	2684	+			872					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2615A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629930	0.28978	0.0	1.16E-4	ENSG00000198700	ENST00000361565	T	0.66638	-0.22	5.23	2.86	0.33363	Armadillo-like helical (1);Armadillo-type fold (1);	0.086330	0.85682	D	0.000000	T	0.35998	0.0951	N	0.03238	-0.38	0.45822	D	0.998695	B	0.09022	0.002	B	0.04013	0.001	T	0.32348	-0.9910	10	0.02654	T	1	-14.2713	11.0422	0.47838	0.572:0.428:0.0:0.0	.	872	Q96P70	IPO9_HUMAN	S	872	ENSP00000354742:N872S	ENSP00000354742:N872S	N	+	2	0	IPO9	200108617	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.609000	0.61148	0.379000	0.24794	0.533000	0.62120	AAT		0.527	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		20	82	0	0	0	1	0	20	82					G	201841994	A	G	201841994	3	3	327	1	0	0	0	0	1	0	0	0	7799	101	4	3	2693	3	IPO9	1	201841994	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	90695430	201841994	47408627	4	32452											
OR2T12	127064	broad.mit.edu	37	chr1	248458438	248458438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcagctgcacccaggAgccaggacgacatggtcatc	13	14	2	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:248458438A>G	ENST00000317996.1	-	1	442	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L148H(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612																																						ENST00000317996.1																			1	Substitution - Missense(1)	p.L148H(1)	ovary(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(442-444)cTc>cCc		olfactory receptor, family 2, subfamily T, member 12							59	67	64					1																	248458438		2176	4297	6473	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458438A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.443T>C	1.37:g.248458438A>G	ENSP00000324583:p.Leu148Pro						p.L148P	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	442	-	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)		148						Missense_Mutation	SNP	ENST00000317996.1	37	c.443T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	12.08	1.829802	0.32329	.	.	ENSG00000177201	ENST00000317996	T	0.45276	0.9	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.729752	0.11158	U	0.593361	T	0.67534	0.2903	M	0.93241	3.395	0.44985	D	0.998008	D	0.57257	0.979	D	0.65573	0.936	T	0.66340	-0.5948	10	0.87932	D	0	.	6.3786	0.21521	0.6446:0.3553:0.0:0.0	.	148	Q8NG77	O2T12_HUMAN	P	148	ENSP00000324583:L148P	ENSP00000324583:L148P	L	-	2	0	OR2T12	246525061	0.000000	0.05858	0.077000	0.20336	0.209000	0.24338	0.557000	0.23454	0.540000	0.28808	0.147000	0.16070	CTC		0.612	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		63	71	0	0	0	1	0	63	71					G	248458438	A	G	248458438	3	3	327	1	0	0	0	0	1	0	0	0	11019	304	11	3	522	3	OR2T12	1	248458438	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	46616444	248458438	792183	5	32453											
C2orf53	339779	broad.mit.edu	37	chr2	27360157	27360157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcctgggactgggtcGgcccgggcctgagctgctgg	20	11	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:27360157G>A	ENST00000335524.3	-	3	1566	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PREB_ENST00000406567.3_5'Flank|PREB_ENST00000416802.1_5'Flank|PREB_ENST00000260643.2_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		347										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGGGTCGGCCCGGGCCT	0.637																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(1039-1041)gcC>gcT		chromosome 2 open reading frame 53							84	82	82					2																	27360157		2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360157G>A																												ENST00000335524.3:c.1041C>T	2.37:g.27360157G>A							p.A347A	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1566	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		347					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.1041C>T	CCDS1739.1																																																																																				0.637	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			38	106	0	0	0	1	0	38	106					A	27360157	G	A	27360157	2	1	327	1	0	0	0	0	0	0	0	1	2174	1103	39	1		1	C2orf53	2	27360157	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		27360157	215839216	6	32454											
FAM126B	285172	broad.mit.edu	37	chr2	201876188	201876188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgttcccatctttatcaGcgatttcctatagtcaaaaa	4	9	3	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:201876188G>A	ENST00000418596.3	-	6	528	c.341C>T	c.(340-342)gCt>gTt	p.A114V	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	114						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTTATCAGCGATTTCCTA	0.303																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(340-342)gCt>gTt		family with sequence similarity 126, member B							38	37	37					2																	201876188		2203	4275	6478	SO:0001583	missense	285172					intracellular		g.chr2:201876188G>A	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.341C>T	2.37:g.201876188G>A	ENSP00000393667:p.Ala114Val						p.A114V	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			6	528	-			114					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.341C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	8.696	0.908636	0.17833	.	.	ENSG00000155744	ENST00000418596;ENST00000452799	T;T	0.75050	-0.9;-0.9	5.9	5.9	0.94986	.	0.056865	0.64402	D	0.000001	T	0.37293	0.0998	N	0.00119	-2.075	0.58432	D	0.999994	B	0.14012	0.009	B	0.12837	0.008	T	0.59794	-0.7387	10	0.02654	T	1	-13.2691	20.2787	0.98501	0.0:0.0:1.0:0.0	.	114	Q8IXS8	F126B_HUMAN	V	114	ENSP00000393667:A114V;ENSP00000401905:A114V	ENSP00000393667:A114V	A	-	2	0	FAM126B	201584433	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.168000	0.77570	2.798000	0.96311	0.650000	0.86243	GCT		0.303	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		7	10	0	0	0	1	0	7	10					A	201876188	G	A	201876188	3	1	327	1	0	0	0	0	1	0	0	0	5430	971	34	2	1279	2	FAM126B	2	201876188	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	174516031	201876188	41323185	7	32455											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	38	0	0	0	1	0	14	38					T	209113112	C	T	209113112	3	4	327	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	7236924	209113112	34086261	8	32456											
CCDC108	255101	broad.mit.edu	37	chr2	219868765	219868765	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcatggactcctgggActcaggctgtggtgtgggcc	15	11	1	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:219868765A>T	ENST00000341552.5	-	33	5547	c.5464T>A	c.(5464-5466)Tcc>Acc	p.S1822T	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1822	Glu-rich.					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)		GACTCCTGGGACTCAGGCTGT	0.577																																						ENST00000341552.5																			0				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						c.(5464-5466)Tcc>Acc		coiled-coil domain containing 108							254	239	244					2																	219868765		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219868765A>T	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.5464T>A	2.37:g.219868765A>T	ENSP00000340776:p.Ser1822Thr					AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T	p.S1822T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5547	-		Renal(207;0.0915)	1822			Glu-rich.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.5464T>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117275	0.20795	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.08102	3.13;3.13;3.13	4.42	3.17	0.36434	.	0.509560	0.14844	N	0.295110	T	0.10121	0.0248	M	0.62723	1.935	0.19575	N	0.999965	P	0.46512	0.879	B	0.42916	0.402	T	0.20207	-1.0282	10	0.49607	T	0.09	-20.4007	4.8545	0.13552	0.7059:0.19:0.1041:0.0	.	1822	Q6ZU64	CC108_HUMAN	T	1822	ENSP00000340776:S1822T;ENSP00000413377:S1822T;ENSP00000409117:S1822T	ENSP00000340776:S1822T	S	-	1	0	CCDC108	219577009	0.372000	0.25064	0.028000	0.17463	0.010000	0.07245	0.641000	0.24720	1.760000	0.52011	0.459000	0.35465	TCC		0.577	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		133	137	0	0	0	1	0	133	137					T	219868765	A	T	219868765	3	4	327	1	0	0	0	0	1	0	0	0	2743	275	10	5	325	5	CCDC108	2	219868765	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	10755653	219868765	23330608	9	32457											
ESPNL	339768	broad.mit.edu	37	chr2	239040177	239040177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatacggagcctggccGcaagtcaggtctgaccctgc	14	13	2	1	rs143407493		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:239040177G>A	ENST00000343063.3	+	9	3085	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	ESPNL_ENST00000409506.1_Missense_Mutation_p.R573H|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.R897H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	941										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCCTGGCCGCAAGTCAGGT	0.731																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(2821-2823)cGc>cAc		espin-like		G	HIS/ARG	1,4373		0,1,2186	12	14	14		2822	1.8	0	2	dbSNP_134	14	0,8558		0,0,4279	no	missense	ESPNL	NM_194312.2	29	0,1,6465	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging	941/1006	239040177	1,12931	2187	4279	6466	SO:0001583	missense	339768							g.chr2:239040177G>A	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2822G>A	2.37:g.239040177G>A	ENSP00000339115:p.Arg941His					ESPNL_ENST00000409506.1_Missense_Mutation_p.R573H|ESPNL_ENST00000409169.1_Missense_Mutation_p.R897H|ESPNL_ENST00000477241.1_3'UTR	p.R941H	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	3085	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	941					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2822G>A	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500824	0.26861	2.29E-4	0.0	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.63096	-0.02;1.08;0.66	4.72	1.84	0.25277	.	0.586877	0.15328	N	0.268194	T	0.67126	0.2860	L	0.56769	1.78	0.09310	N	1	D;D	0.76494	0.999;0.999	D;P	0.67231	0.95;0.893	T	0.56013	-0.8049	10	0.62326	D	0.03	-14.1801	1.363	0.02195	0.1933:0.1721:0.4573:0.1773	.	897;941	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	H	941;897;573	ENSP00000339115:R941H;ENSP00000386577:R897H;ENSP00000386579:R573H	ENSP00000339115:R941H	R	+	2	0	ESPNL	238704916	0.213000	0.23551	0.025000	0.17156	0.060000	0.15804	1.260000	0.32968	0.393000	0.25203	0.460000	0.39030	CGC		0.731	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		3	33	0	0	0	1	0	3	33					A	239040177	G	A	239040177	3	1	327	1	0	0	0	0	1	0	0	0	5255	1087	38	1	2856	1	ESPNL	2	239040177	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	19171412	239040177	4159196	10	32458											
ITPR1	3708	broad.mit.edu	37	chr3	4699950	4699950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctgcgtggaggtgacaGccttgtcccaaggtatcatt	11	11	2	1	rs6766212		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:4699950G>A	ENST00000443694.2	+	10	1094	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S365N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	380	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)	GGAGGTGACAGCCTTGTCCCA	0.493																																						ENST00000302640.8																			0				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						c.(1093-1095)aGc>aAc		inositol 1,4,5-trisphosphate receptor, type 1							100	98	98					3																	4699950		1926	4137	6063	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4699950G>A	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.1094G>A	3.37:g.4699950G>A	ENSP00000401671:p.Ser365Asn					ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000443694.2_Missense_Mutation_p.S365N|ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N	p.S365N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	12	1444	+			380			MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1094G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359127	0.82353	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	5.39	5.39	0.77823	MIR motif (2);MIR (2);	0.142496	0.64402	D	0.000005	D	0.90772	0.7103	L	0.52573	1.65	0.80722	D	1	B;B;B	0.32693	0.14;0.29;0.38	B;B;B	0.41946	0.371;0.371;0.255	D	0.88477	0.3066	10	0.32370	T	0.25	.	19.171	0.93578	0.0:0.0:1.0:0.0	.	365;380;380	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	380;365;380;380;380;365;365	ENSP00000306253:S365N;ENSP00000346595:S380N;ENSP00000405934:S380N;ENSP00000349597:S380N;ENSP00000397885:S365N;ENSP00000401671:S365N	ENSP00000306253:S365N	S	+	2	0	ITPR1	4674950	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.683000	0.68189	2.525000	0.85131	0.655000	0.94253	AGC		0.493	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		8	56	0	0	0	1	0	8	56					A	4699950	G	A	4699950	3	1	327	1	0	0	0	0	1	0	0	0	7920	971	34	2	1181	2	ITPR1	3	4699950	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		4699950	193322480	11	32459											
GOLGA4	2803	broad.mit.edu	37	chr3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcagactcagaaaattttgGaaagagaagatgctcggctg	11	6	2	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				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.L2213_E2214>F*(2)		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						GAAAATTTTGGAAAGAGAAGA	0.383																																						ENST00000361924.2																			2	Complex - compound substitution(2)	p.L2213_E2214>F*(2)	lung(2)	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						c.(6640-6642)Gaa>Taa		golgin A4							132	132	132					3																	37396655		2203	4299	6502	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37396655G>T	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.6640G>T	3.37:g.37396655G>T	ENSP00000354486:p.Glu2214*					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	p.E2214*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			22	7014	+			2214			GRIP.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.6640G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	48	14.881537	0.99814	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	5.82	5.82	0.92795	.	0.000000	0.37577	N	0.002035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.5745	0.76365	0.0:0.1371:0.8629:0.0	.	.	.	.	X	2214;2229;2085	.	ENSP00000349305:E2229X	E	+	1	0	GOLGA4	37371659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.914000	0.69964	2.756000	0.94617	0.563000	0.77884	GAA		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		27	52	1	0	2.25844e-05	1	2.32687e-05	27	52					T	37396655	G	T	37396655	4	4	327	1	0	0	0	0	0	1	0	0	6555	1175	41	4	6796	4	GOLGA4	3	37396655	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	32696705	37396655	160625775	12	32460											
DNASE1L3	1776	broad.mit.edu	37	chr3	58190566	58190566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtctccatcctgataGtcatggtagtgataactcct	8	11	3	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:58190566G>C	ENST00000394549.2	-	4	679	c.363C>G	c.(361-363)gaC>gaG	p.D121E	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.D121E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	121					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCTGATAGTCATGGTAGT	0.493																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(361-363)gaC>gaG		deoxyribonuclease I-like 3							131	117	121					3																	58190566		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58190566G>C	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.363C>G	3.37:g.58190566G>C	ENSP00000378053:p.Asp121Glu					DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E	p.D121E			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	6	944	-			121					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.363C>G	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030744	0.35797	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.4	3.57	0.40892	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.80982	2.52	0.40712	D	0.982585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.70868	-0.4755	10	0.62326	D	0.03	.	10.9517	0.47334	0.1768:0.0:0.8232:0.0	.	91;121;121	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	E	91;121;121;121;121;121	ENSP00000419052:D91E;ENSP00000316193:D121E;ENSP00000417047:D121E;ENSP00000378053:D121E;ENSP00000418113:D121E	ENSP00000316193:D121E	D	-	3	2	DNASE1L3	58165606	0.464000	0.25807	0.988000	0.46212	0.045000	0.14185	0.887000	0.28254	2.529000	0.85273	0.655000	0.94253	GAC		0.493	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		12	54	0	0	0	1	0	12	54					C	58190566	G	C	58190566	3	2	327	1	0	0	0	0	1	0	0	0	4663	1020	36	4	574	4	DNASE1L3	3	58190566	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	20793911	58190566	139831864	13	32461											
TP63	8626	broad.mit.edu	37	chr3	189604292	189604292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttatcaaccctcagcagCgcaacgccctcactcctaca	5	18	3	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:189604292C>T	ENST00000264731.3	+	11	1548	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	TP63_ENST00000392463.2_Missense_Mutation_p.R393C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C|TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000456148.1_Missense_Mutation_p.R389C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	487					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)		CCCTCAGCAGCGCAACGCCCT	0.502										HNSCC(45;0.13)																												ENST00000264731.3																			0				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						c.(1459-1461)Cgc>Tgc		tumor protein p63							137	111	120					3																	189604292		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189604292C>T	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.1459C>T	3.37:g.189604292C>T	ENSP00000264731:p.Arg487Cys	HNSCC(45;0.13)				TP63_ENST00000456148.1_Missense_Mutation_p.R389C|TP63_ENST00000392463.2_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C|TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C	p.R487C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1548	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		487					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	ENST00000264731.3	37	c.1459C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138235	0.77775	.	.	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99704	-6.14;-6.41;-6.39;-6.14;-6.45;-6.12;-6.36;-6.38;-6.46;-6.12	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99357	0.9774	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.996;1.0;0.997	P;D;D;P;D;P	0.69142	0.862;0.95;0.931;0.862;0.962;0.835	D	0.98147	1.0439	9	.	.	.	-6.9312	14.4918	0.67657	0.1466:0.8534:0.0:0.0	.	308;487;393;393;487;487	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	C	487;487;487;483;402;393;393;393;308;389	ENSP00000264731:R487C;ENSP00000317510:R487C;ENSP00000376253:R487C;ENSP00000394337:R483C;ENSP00000371495:R402C;ENSP00000346614:R393C;ENSP00000376256:R393C;ENSP00000376254:R393C;ENSP00000387839:R308C;ENSP00000389485:R389C	.	R	+	1	0	TP63	191086986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.424000	0.52764	2.894000	0.99253	0.591000	0.81541	CGC		0.502	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		24	57	0	0	0	1	0	24	57					T	189604292	C	T	189604292	3	4	327	1	0	0	0	0	1	0	0	0	16389	768	27	1	1666	1	TP63	3	189604292	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	131413726	189604292	8418138	14	32462											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68935722	68935722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatctttttgctgtcaAtagctggaataagcaaaaca	6	9	3	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:68935722A>C	ENST00000356291.2	-	6	577	c.518T>G	c.(517-519)aTt>aGt	p.I173S	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	173	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTGCTGTCAATAGCTGGAAT	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(517-519)aTt>aGt		transmembrane protease, serine 11F							146	149	148					4																	68935722		2202	4298	6500	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68935722A>C	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.518T>G	4.37:g.68935722A>C	ENSP00000348639:p.Ile173Ser					RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA	p.I173S	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			6	577	-			173			SEA.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.518T>G	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956566	0.73902	.	.	ENSG00000198092	ENST00000356291	T	0.34275	1.37	5.96	5.96	0.96718	SEA (2);	0.000000	0.56097	D	0.000026	T	0.52725	0.1752	M	0.72894	2.215	0.42482	D	0.99286	D	0.71674	0.998	P	0.59115	0.852	T	0.51826	-0.8656	10	0.31617	T	0.26	.	12.8299	0.57740	1.0:0.0:0.0:0.0	.	173	Q6ZWK6	TM11F_HUMAN	S	173	ENSP00000348639:I173S	ENSP00000348639:I173S	I	-	2	0	TMPRSS11F	68618317	0.989000	0.36119	0.995000	0.50966	0.851000	0.48451	3.262000	0.51538	2.280000	0.76307	0.533000	0.62120	ATT		0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		31	79	0	0	0	1	0	31	79					C	68935722	A	C	68935722	3	2	327	1	0	0	0	0	1	0	0	0	16240	101	4	5	818	5	TMPRSS11F	4	68935722	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		68935722	122218554	15	32463											
MMAA	166785	broad.mit.edu	37	chr4	146560298	146560298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaataaaacgaatatgcccAtgctgctaccacatcctcac	4	14	1	0	rs527340737		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:146560298A>G	ENST00000281317.5	+	2	1217	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	3					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATGCCCATGCTGCTACC	0.423																																						ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(7-9)Atg>Gtg		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						99	100	100					4																	146560298		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560298A>G	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.7A>G	4.37:g.146560298A>G	ENSP00000281317:p.Met3Val					MMAA_ENST00000541599.1_5'UTR	p.M3V	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			2	1217	+	all_hematologic(180;0.151)		3					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.7A>G	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	a	5.497	0.276735	0.10403	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.90620	-2.7	5.42	-7.72	0.01250	.	1.059490	0.07278	N	0.870290	D	0.83552	0.5279	L	0.57536	1.79	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65327	-0.6195	10	0.22706	T	0.39	-8.1666	5.2887	0.15716	0.1634:0.3015:0.4363:0.0988	.	3;3	Q8IVH4;D6RIS5	MMAA_HUMAN;.	V	3	ENSP00000281317:M3V	ENSP00000281317:M3V	M	+	1	0	MMAA	146779748	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-0.428000	0.06991	-1.659000	0.01488	0.533000	0.62120	ATG		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			69	97	0	0	0	1	0	69	97					G	146560298	A	G	146560298	3	3	327	1	0	0	0	0	1	0	0	0	9639	217	8	3	9	3	MMAA	4	146560298	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	77624576	146560298	44593978	16	32464											
SDHA	6389	broad.mit.edu	37	chr5	256470	256470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactctggaatatagacccGtgatcgacaaaactttgaac	7	10	2	3	rs3211483		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1930-1932)Gtg>Atg		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						91	104	99					5																	256470		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	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	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:256470G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1930G>A	5.37:g.256470G>A	ENSP00000264932:p.Val644Met					SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M	p.V644M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		15	2045	+			644					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1930G>A	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	15.71|15.71	2.915077|2.915077	0.52546|0.52546	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000515815|ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	.|D;D;D	.|0.84730	.|-1.89;-1.89;-1.89	4.12|4.12	4.12|4.12	0.48240|0.48240	.|Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000002	D|D	0.94056|0.94056	0.8095|0.8095	H|H	0.94582|0.94582	3.555|3.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.993;0.997	D|D	0.95511|0.95511	0.8586|0.8586	5|10	.|0.87932	.|D	.|0	.|.	13.8591|13.8591	0.63548|0.63548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs3211483;rs17415232|rs3211483;rs17415232	.|596;238;563;644	.|E9PBJ5;B3KYA5;D6RFM5;P31040	.|.;.;.;DHSA_HUMAN	H|M	126|644;499;563;596	.|ENSP00000264932:V644M;ENSP00000426514:V563M;ENSP00000427703:V596M	.|ENSP00000264932:V644M	R|V	+|+	2|1	0|0	SDHA|SDHA	309470|309470	1.000000|1.000000	0.71417|0.71417	0.642000|0.642000	0.29436|0.29436	0.242000|0.242000	0.25591|0.25591	8.735000|8.735000	0.91549|0.91549	1.861000|1.861000	0.53984|0.53984	0.305000|0.305000	0.20034|0.20034	CGT|GTG		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	177	0	0	0	1	0	5	177					A	256470	G	A	256470	3	1	327	1	0	0	0	0	1	0	0	0	13963	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		256470	180658790	17	32465											
CDH12	1010	broad.mit.edu	37	chr5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttttttcttctgccttcGcagtgctacatacagtacaa	6	11	3	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization (GO:0034332)|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(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1912-1914)Cga>Tga		cadherin 12, type 2 (N-cadherin 2)							78	76	76					5																	21752319		2203	4300	6503	SO:0001587	stop_gained	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752319G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1912C>T	5.37:g.21752319G>A	ENSP00000371689:p.Arg638*	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*	p.R638*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	2998	-			638					B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	ENST00000382254.1	37	c.1912C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	38	7.035683	0.98017	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.44	-3.69	0.04450	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	22.0773	0.99966	0.0:0.0:0.1604:0.8396	.	.	.	.	X	638;638;598	.	ENSP00000371689:R638X	R	-	1	2	CDH12	21788076	0.003000	0.15002	0.610000	0.28997	0.550000	0.35303	-0.179000	0.09768	-0.676000	0.05238	-0.467000	0.05162	CGA		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		34	11	0	0	0	1	0	34	11					A	21752319	G	A	21752319	4	1	327	1	0	0	0	0	0	1	0	0	3098	1095	38	1	476	1	CDH12	5	21752319	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	21495849	21752319	159162941	18	32466											
MRPS27	23107	broad.mit.edu	37	chr5	71593520	71593520	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgttttatccattaaagatGcaagatcagctgtgaagaca	8	6	1	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:71593520G>C	ENST00000261413.5	-	3	200	c.161C>G	c.(160-162)gCa>gGa	p.A54G	MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000457646.4_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	54						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CATTAAAGATGCAAGATCAGC	0.294																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(160-162)gCa>gGa		mitochondrial ribosomal protein S27							28	29	29					5																	71593520		2200	4288	6488	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71593520G>C	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"Mitochondrial ribosomal proteins / small subunits"	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.161C>G	5.37:g.71593520G>C	ENSP00000261413:p.Ala54Gly					MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000457646.4_5'UTR	p.A54G	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	3	200	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	54					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.161C>G	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711227	0.68730	.	.	ENSG00000113048	ENST00000261413;ENST00000513900;ENST00000522095	T;T;T	0.56941	0.43;0.43;0.43	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.69823	2.125	0.51012	D	0.999908	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.67256	-0.5716	10	0.31617	T	0.26	-10.2206	15.404	0.74863	0.0:0.0:1.0:0.0	.	54;54	B4DRT2;Q92552	.;RT27_HUMAN	G	54	ENSP00000261413:A54G;ENSP00000426941:A54G;ENSP00000430590:A54G	ENSP00000261413:A54G	A	-	2	0	MRPS27	71629276	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.745000	0.74860	2.609000	0.88269	0.563000	0.77884	GCA		0.294	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		4	14	0	0	0	1	0	4	14					C	71593520	G	C	71593520	3	2	327	1	0	0	0	0	1	0	0	0	9838	1319	46	4	1119	4	MRPS27	5	71593520	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	49841201	71593520	109321740	19	32467											
PCDHA1	56147	broad.mit.edu	37	chr5	140167485	140167485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagttccaggtgagcgCgcgggatgcgggcgtgccgc	19	12	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140167485C>T	ENST00000504120.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A537V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	537	Cadherin 5. {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)			CAGGTGAGCGCGCGGGATGCG	0.677																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1609-1611)gCg>gTg									60	65	64					5																	140167485		2203	4298	6501	SO:0001583	missense	0							g.chr5:140167485C>T	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.1610C>T	5.37:g.140167485C>T	ENSP00000420840:p.Ala537Val					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000394633.3_Intron	p.A537V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1610C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	19.58	3.853720	0.71719	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.73363	-0.74;-0.74	3.49	3.49	0.39957	Cadherin (5);Cadherin-like (1);	0.196416	0.24357	U	0.039223	D	0.83166	0.5195	M	0.75085	2.285	0.46499	D	0.999073	D;D	0.89917	1.0;0.994	P;P	0.59487	0.858;0.808	D	0.86403	0.1743	10	0.72032	D	0.01	.	15.4054	0.74874	0.0:1.0:0.0:0.0	.	537;537	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	537	ENSP00000420840:A537V;ENSP00000367373:A537V	ENSP00000367373:A537V	A	+	2	0	PCDHA1	140147669	1.000000	0.71417	0.999000	0.59377	0.482000	0.33219	4.495000	0.60353	1.676000	0.50930	0.549000	0.68633	GCG		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		16	296	0	0	0	1	0	16	296					T	140167485	C	T	140167485	3	4	327	1	0	0	0	0	1	0	0	0	11519	768	27	1	1612	1	PCDHA1	5	140167485	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	68573965	140167485	40747775	20	32468											
PCDHA2	56146	broad.mit.edu	37	chr5	140176511	140176511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgctggtgaaggaccaCggcgaaccagcgttgacagc	14	12	0	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140176511C>T	ENST00000526136.1	+	1	1962	c.1962C>T	c.(1960-1962)caC>caT	p.H654H	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.H654H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.H654H	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	654	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(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)			TGAAGGACCACGGCGAACCAG	0.667																																						ENST00000526136.1																			0				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						c.(1960-1962)caC>caT									73	72	72					5																	140176511		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176511C>T	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.1962C>T	5.37:g.140176511C>T						PCDHA2_ENST00000520672.2_Silent_p.H654H|PCDHA2_ENST00000378132.1_Silent_p.H654H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.H654H	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1962	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1962C>T	CCDS54914.1																																																																																				0.667	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		4	141	0	0	0	1	0	4	141					T	140176511	C	T	140176511	2	4	327	1	0	0	0	0	0	0	0	1	11524	535	19	1		1	PCDHA2	5	140176511	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	9026	140176511	40738749	21	32469											
STK32A	202374	broad.mit.edu	37	chr5	146657719	146657719	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttgaaattttgcgagccAttgggaaaggcagttttggg	13	5	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:146657719A>G	ENST00000397936.3	+	3	418	c.85A>G	c.(85-87)Att>Gtt	p.I29V	STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	29	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)			TTTGCGAGCCATTGGGAAAGG	0.358																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(85-87)Att>Gtt		serine/threonine kinase 32A							56	52	53					5																	146657719		1830	4086	5916	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146657719A>G		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.85A>G	5.37:g.146657719A>G	ENSP00000381030:p.Ile29Val					STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	418	+			29			Protein kinase.		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.85A>G	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688985	0.68271	.	.	ENSG00000169302	ENST00000397936;ENST00000541094;ENST00000398521;ENST00000398523	T;T;T;T	0.32272	1.46;2.78;2.78;1.46	5.53	5.53	0.82687	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	0.45361	D	0.000362	T	0.48786	0.1519	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.76494	0.999;0.993;0.998;0.985	D;D;D;P	0.76071	0.979;0.987;0.964;0.814	T	0.33828	-0.9853	10	0.18276	T	0.48	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	29;29;29;29	B7Z9H7;Q8WU08;Q8WU08-3;Q8WU08-2	.;ST32A_HUMAN;.;.	V	29	ENSP00000381030:I29V;ENSP00000443156:I29V;ENSP00000381533:I29V;ENSP00000381535:I29V	ENSP00000381030:I29V	I	+	1	0	STK32A	146637912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.640000	0.91028	2.105000	0.64084	0.528000	0.53228	ATT		0.358	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		5	11	0	0	0	1	0	5	11					G	146657719	A	G	146657719	3	3	327	1	0	0	0	0	1	0	0	0	15296	217	8	3	91	3	STK32A	5	146657719	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	6481208	146657719	34257541	22	32470											
FAT2	2196	broad.mit.edu	37	chr5	150947117	150947117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatcataggaagacctgTtgaagaggggggcatggttg	15	6	1	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:150947117T>C	ENST00000261800.5	-	1	1388	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	459	Cadherin 4. {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)			GGAAGACCTGTTGAAGAGGGG	0.537																																						ENST00000261800.5																			0				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						c.(1375-1377)aAc>aGc		FAT atypical cadherin 2							116	117	116					5																	150947117		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947117T>C	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.1376A>G	5.37:g.150947117T>C	ENSP00000261800:p.Asn459Ser						p.N459S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1388	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	459			Cadherin 4.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1376A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	2.888	-0.230277	0.05983	.	.	ENSG00000086570	ENST00000261800	T	0.59502	0.26	5.72	0.867	0.19085	Cadherin (3);Cadherin-like (1);	0.616205	0.16271	N	0.221764	T	0.28333	0.0700	N	0.11313	0.125	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.05721	T	0.95	.	6.8771	0.24153	0.0:0.3338:0.2922:0.374	.	459	Q9NYQ8	FAT2_HUMAN	S	459	ENSP00000261800:N459S	ENSP00000261800:N459S	N	-	2	0	FAT2	150927310	0.996000	0.38824	0.951000	0.38953	0.939000	0.58152	0.707000	0.25704	0.135000	0.18707	0.533000	0.62120	AAC		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		56	91	0	0	0	1	0	56	91					C	150947117	T	C	150947117	3	2	327	1	0	0	0	0	1	0	0	0	5690	1725	60	3	11765	3	FAT2	5	150947117	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	4289398	150947117	29968143	23	32471											
RUFY1	80230	broad.mit.edu	37	chr5	178996303	178996303	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtccatctctttcagCgagttctatgagcctgaggc	10	12	3	2	rs141995707		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:178996303C>T	ENST00000319449.4	+	5	717	c.705C>T	c.(703-705)agC>agT	p.S235S	RUFY1_ENST00000393438.2_Splice_Site_p.S127S|RUFY1_ENST00000377001.2_Splice_Site_p.S235S|RUFY1_ENST00000437570.2_Splice_Site_p.S127S	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	235	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTTTCAGCGAGTTCTATG	0.527										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.e5-1		RUN and FYVE domain containing 1							280	239	253					5																	178996303		2203	4300	6503	SO:0001630	splice_region_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178996303C>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.705-1C>T	5.37:g.178996303C>T		HNSCC(44;0.11)				RUFY1_ENST00000319449.4_Splice_Site_p.S235_splice|RUFY1_ENST00000437570.2_Splice_Site_p.S127_splice|RUFY1_ENST00000393438.2_Splice_Site_p.S127_splice	p.S235_splice			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	705	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	235			RUN.		Q59FF3|Q71S93|Q9H6I3	Splice_Site	SNP	ENST00000319449.4	37	c.704_splice	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191873	0.21954	.	.	ENSG00000176783	ENST00000502984;ENST00000508609	.	.	.	5.04	1.1	0.20463	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45963	-0.9225	4	.	.	.	.	8.5711	0.33569	0.0:0.2257:0.0:0.7743	.	.	.	.	V	193;46	.	.	A	+	2	0	RUFY1	178928909	1.000000	0.71417	0.982000	0.44146	0.461000	0.32589	2.713000	0.47194	0.053000	0.16036	-0.459000	0.05422	GCG		0.527	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	Silent	6	173	0	0	0	1	0	6	173					T	178996303	C	T	178996303	5	4	327	1	0	0	0	0	0	0	1	0	13738	782	27	1	723	1	RUFY1	5	178996303	Splice_Site	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	28049186	178996303	1918957	24	32472											
LRRC16A	55604	broad.mit.edu	37	chr6	25517626	25517626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaggctttcaggatatAgctgttgctatggaaaagta	11	6	1	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:25517626A>G	ENST00000329474.6	+	22	2225	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	619					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						TTCAGGATATAGCTGTTGCTA	0.313																																						ENST00000329474.6																			0				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						c.(1855-1857)atA>atG		leucine rich repeat containing 16A							114	108	110					6																	25517626		1839	4090	5929	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25517626A>G	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.1857A>G	6.37:g.25517626A>G	ENSP00000331983:p.Ile619Met						p.I619M	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			22	2225	+			619					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1857A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667034	0.67814	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.58652	0.32	5.94	1.87	0.25490	.	0.043726	0.85682	D	0.000000	T	0.51822	0.1697	L	0.45352	1.415	0.80722	D	1	D;D;D	0.69078	0.992;0.992;0.997	P;P;D	0.65874	0.871;0.871;0.939	T	0.56135	-0.8029	10	0.87932	D	0	.	8.5911	0.33688	0.4891:0.3868:0.0:0.1241	.	619;619;619	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	M	619	ENSP00000331983:I619M	ENSP00000331983:I619M	I	+	3	3	LRRC16A	25625605	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.353000	0.44089	0.445000	0.26639	0.459000	0.35465	ATA		0.313	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		23	41	0	0	0	1	0	23	41					G	25517626	A	G	25517626	3	3	327	1	0	0	0	0	1	0	0	0	8971	410	15	3	1943	3	LRRC16A	6	25517626	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		25517626	145597441	25	32473											
SLC17A5	26503	broad.mit.edu	37	chr6	74331529	74331529	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgattattttttcttacctCttgaacattgaaccttagga	5	7	2	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:74331529C>G	ENST00000355773.5	-	7	1244	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	326					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTCTTACCTCTTGAACATTG	0.308																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(976-978)Gag>Cag		solute carrier family 17 (acidic sugar transporter), member 5							33	33	33					6																	74331529		2203	4297	6500	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331529C>G	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.976G>C	6.37:g.74331529C>G	ENSP00000348019:p.Glu326Gln					SLC17A5_ENST00000393019.3_3'UTR	p.E326Q	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			7	1244	-			326					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.976G>C	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299645	0.23650	.	.	ENSG00000119899	ENST00000355773	T	0.57595	0.39	5.82	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052912	0.85682	D	0.000000	T	0.21307	0.0513	N	0.16478	0.41	0.80722	D	1	B;B	0.26577	0.023;0.153	B;B	0.30316	0.048;0.114	T	0.08617	-1.0713	10	0.17369	T	0.5	.	15.007	0.71519	0.0:0.9314:0.0:0.0686	.	388;326	E1P537;Q9NRA2	.;S17A5_HUMAN	Q	326	ENSP00000348019:E326Q	ENSP00000348019:E326Q	E	-	1	0	SLC17A5	74388250	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.706000	0.61845	1.466000	0.48025	0.555000	0.69702	GAG		0.308	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			7	19	0	0	0	1	0	7	19					G	74331529	C	G	74331529	3	3	327	1	0	0	0	0	1	0	0	0	14420	922	32	4	531	4	SLC17A5	6	74331529	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	48813903	74331529	96783538	26	32474											
FAM188B	84182	broad.mit.edu	37	chr7	30898919	30898919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccctttctgccaTcctgtccaggtctacagagc	7	17	3	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:30898919T>C	ENST00000265299.6	+	13	1801	c.1724T>C	c.(1723-1725)aTc>aCc	p.I575T	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.I38T	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	575										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTCTGCCATCCTGTCCAGG	0.567																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1723-1725)aTc>aCc		family with sequence similarity 188, member B							122	128	126					7																	30898919		2078	4224	6302	SO:0001583	missense	84182							g.chr7:30898919T>C	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.1724T>C	7.37:g.30898919T>C	ENSP00000265299:p.Ile575Thr					INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.I38T	p.I575T	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			13	1801	+			575					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1724T>C	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740039	0.69304	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.40476	1.03;1.03	5.26	5.26	0.73747	.	0.312951	0.32671	N	0.005798	T	0.59128	0.2171	M	0.84683	2.71	0.80722	D	1	P;D	0.53745	0.918;0.962	P;P	0.53146	0.524;0.719	T	0.66941	-0.5796	10	0.87932	D	0	-23.6808	11.5476	0.50702	0.0:0.0:0.0:1.0	.	95;575	B8ZZX1;Q4G0A6	.;F188B_HUMAN	T	575;95;38	ENSP00000265299:I575T;ENSP00000421315:I38T	ENSP00000265299:I575T	I	+	2	0	RP5-877J2.1;FAM188B	30865444	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.383000	0.52471	1.989000	0.58080	0.459000	0.35465	ATC		0.567	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		16	63	0	0	0	1	0	16	63					C	30898919	T	C	30898919	3	2	327	1	0	0	0	0	1	0	0	0	5515	1435	50	3	1774	3	FAM188B	7	30898919	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		30898919	128239744	27	32475											
ZAN	7455	broad.mit.edu	37	chr7	100363082	100363082	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagaccggtgcgtggagGcctgtgaatgcaatccgggc	16	11	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:100363082G>T	ENST00000348028.3	+	0	4540				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_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)			GTGCGTGGAGGCCTGTGAATG	0.612																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							52	55	54					7																	100363082		2123	4250	6373			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363082G>T	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.100363082G>T						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4523	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	32	5.191417	0.94923	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	3.99	3.99	0.46301	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.593650	0.14038	N	0.345606	T	0.65974	0.2743	N	0.12527	0.23	0.27069	N	0.963377	P;P	0.38827	0.597;0.649	B;B	0.42163	0.26;0.378	T	0.62840	-0.6769	10	0.59425	D	0.04	.	12.2723	0.54712	0.0:0.0:1.0:0.0	.	1459;1459	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1459;1459;1459;36	ENSP00000445943:A1459S;ENSP00000445091:A1459S;ENSP00000444427:A1459S;ENSP00000441117:A36S	ENSP00000423579:A1459S	A	+	1	0	ZAN	100201018	1.000000	0.71417	0.991000	0.47740	0.602000	0.36980	5.830000	0.69324	2.183000	0.69458	0.462000	0.41574	GCC		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	36	1	0	0.000151284	1	0.000153542	13	36					T	100363082	G	T	100363082	1	4	327	0	1	0	0	0	0	0	0	0	17510	1203	42	4		4	ZAN	7	100363082	RNA	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	69464163	100363082	58775581	28	32476											
NOS3	4846	broad.mit.edu	37	chr7	150704000	150704000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttataagatccgcttcaacaGcatctcctgctcagacccac	5	15	3	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:150704000G>A	ENST00000297494.3	+	16	2201	c.1844G>A	c.(1843-1845)aGc>aAc	p.S615N	NOS3_ENST00000461406.1_Missense_Mutation_p.S409N	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)		CGCTTCAACAGCATCTCCTGC	0.607																																						ENST00000297494.3																			0				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						c.(1843-1845)aGc>aAc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						108	99	102					7																	150704000		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704000G>A		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.1844G>A	7.37:g.150704000G>A	ENSP00000297494:p.Ser615Asn					NOS3_ENST00000461406.1_Missense_Mutation_p.S409N	p.S615N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2201	+	all_neural(206;0.219)		615			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1844G>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344852	0.61073	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59083	0.29;0.29	5.14	4.25	0.50352	Flavodoxin/nitric oxide synthase (2);	0.079210	0.51477	D	0.000097	T	0.65491	0.2696	L	0.53249	1.67	0.80722	D	1	P;P	0.48503	0.911;0.872	P;P	0.54965	0.765;0.58	T	0.66736	-0.5848	10	0.49607	T	0.09	-13.0515	13.7153	0.62693	0.0:0.1558:0.8442:0.0	.	409;615	E7ESA7;P29474	.;NOS3_HUMAN	N	615;409	ENSP00000297494:S615N;ENSP00000417143:S409N	ENSP00000297494:S615N	S	+	2	0	NOS3	150334933	1.000000	0.71417	0.973000	0.42090	0.984000	0.73092	6.775000	0.75018	1.268000	0.44264	0.603000	0.83216	AGC		0.607	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		4	171	0	0	0	1	0	4	171					A	150704000	G	A	150704000	3	1	327	1	0	0	0	0	1	0	0	0	10544	971	34	2	2184	2	NOS3	7	150704000	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	50340918	150704000	8434663	29	32477											
TG	7038	broad.mit.edu	37	chr8	134145854	134145854	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgacagggcctgaagaaagCcgactgctccttctggtcca	11	13	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145854C>G	ENST00000220616.4	+	47	8178	c.8138C>G	c.(8137-8139)gCc>gGc	p.A2713G	TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000519543.1_Missense_Mutation_p.A846G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2713					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)		CTGAAGAAAGCCGACTGCTCC	0.547																																						ENST00000220616.4																			0				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						c.(8137-8139)gCc>gGc		thyroglobulin							86	78	81					8																	134145854		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145854C>G	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.8138C>G	8.37:g.134145854C>G	ENSP00000220616:p.Ala2713Gly					TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000519543.1_Missense_Mutation_p.A846G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G	p.A2713G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	47	8178	+	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)	2713					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8138C>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.879334|1.879334	0.33162|0.33162	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|.	0.67865|.	-0.29;-0.29;-0.29;-0.29;0.7|.	4.84|4.84	3.96|3.96	0.45880|0.45880	Carboxylesterase, type B (1);|.	0.262070|.	0.32473|.	N|.	0.006059|.	T|T	0.45856|0.45856	0.1363|0.1363	L|L	0.53249|0.53249	1.67|1.67	0.20307|0.20307	N|N	0.999912|0.999912	D;D;D|.	0.63880|.	0.993;0.981;0.993|.	D;P;D|.	0.63192|.	0.912;0.652;0.912|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.87932|.	D|.	0|.	.|.	11.101|11.101	0.48174|0.48174	0.0:0.908:0.0:0.092|0.0:0.908:0.0:0.092	.|.	846;1083;2713|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	G|R	2656;1519;2713;832;1083;846;117|1168	ENSP00000367100:A2656G;ENSP00000220616:A2713G;ENSP00000441693:A1083G;ENSP00000430430:A846G;ENSP00000430161:A117G|.	ENSP00000220616:A2713G|.	A|S	+|+	2|3	0|2	TG|TG	134215036|134215036	0.978000|0.978000	0.34361|0.34361	0.122000|0.122000	0.21767|0.21767	0.026000|0.026000	0.11368|0.11368	3.683000|3.683000	0.54663|0.54663	1.140000|1.140000	0.42260|0.42260	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		11	43	0	0	0	1	0	11	43					G	134145854	C	G	134145854	3	3	327	1	0	0	0	0	1	0	0	0	15810	739	26	4	8324	4	TG	8	134145854	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		134145854	12218168	30	32478											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488257	134488257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggtcctcttccgcAgggtcaccatcttcgcagtc	9	15	4	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134488257A>G	ENST00000319914.5	-	4	1038	c.11T>C	c.(10-12)cTg>cCg	p.L4P	ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	4					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)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCTTCCGCAGGGTCACCAT	0.552																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(10-12)cTg>cCg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							73	76	75					8																	134488257		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488257A>G	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.11T>C	8.37:g.134488257A>G	ENSP00000318445:p.Leu4Pro					ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P	p.L4P			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		4	1038	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		4					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.11T>C	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.564611	0.27915	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634;ENST00000519924;ENST00000523855	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.55	-1.1	0.09872	.	1.570580	0.03050	N	0.154487	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23691	-1.0181	10	0.36615	T	0.2	-4.3206	4.7748	0.13173	0.5944:0.0:0.2745:0.1311	.	4	Q11201	SIA4A_HUMAN	P	4	ENSP00000318445:L4P;ENSP00000414073:L4P;ENSP00000428540:L4P;ENSP00000430515:L4P	ENSP00000318445:L4P	L	-	2	0	ST3GAL1	134557439	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.462000	0.21956	-0.419000	0.07439	0.459000	0.35465	CTG		0.552	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		35	70	0	0	0	1	0	35	70					G	134488257	A	G	134488257	3	3	327	1	0	0	0	0	1	0	0	0	15213	188	7	3	1035	3	ST3GAL1	8	134488257	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	342403	134488257	11875765	31	32479											
GBA2	57704	broad.mit.edu	37	chr9	35741041	35741041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcccacacaaagacTcctacaggcaggctgctgtc	7	16	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:35741041T>C	ENST00000378103.3	-	5	1330	c.807A>G	c.(805-807)ggA>ggG	p.G269G	GBA2_ENST00000545786.1_Silent_p.G275G|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Silent_p.G269G|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	269					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)			ACACAAAGACTCCTACAGGCA	0.567																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(805-807)ggA>ggG		glucosidase, beta (bile acid) 2							75	59	65					9																	35741041		2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35741041T>C	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	ENST00000378103.3:c.807A>G	9.37:g.35741041T>C						GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378103.3_Silent_p.G269G|GBA2_ENST00000545786.1_Silent_p.G275G	p.G269G			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	1320	-	all_epithelial(49;0.167)		269					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.807A>G	CCDS6589.1																																																																																				0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		19	64	0	0	0	1	0	19	64					C	35741041	T	C	35741041	2	2	327	1	0	0	0	0	0	0	0	1	6267	1538	54	3		3	GBA2	9	35741041	Silent	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35741041	105472390	32	32480											
TTF1	7270	broad.mit.edu	37	chr9	135275446	135275446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttaaattccttaaaccGttccaagtcgtcccggtaca	6	12	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:135275446G>A	ENST00000334270.2	-	3	1606	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	523					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)		TCCTTAAACCGTTCCAAGTCG	0.468																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1567-1569)Cgg>Tgg		transcription termination factor, RNA polymerase I							170	158	162					9																	135275446		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275446G>A	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.1567C>T	9.37:g.135275446G>A	ENSP00000333920:p.Arg523Trp						p.R523W	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1606	-		Myeloproliferative disorder(178;0.204)	523					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1567C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593613	0.28445	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.23348	1.91	5.14	3.3	0.37823	.	0.087366	0.46145	D	0.000309	T	0.42040	0.1185	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.16217	-1.0410	10	0.54805	T	0.06	.	6.6144	0.22769	0.0912:0.0:0.7314:0.1774	.	523	Q15361	TTF1_HUMAN	W	523	ENSP00000333920:R523W	ENSP00000245588:R523W	R	-	1	2	TTF1	134265267	0.967000	0.33354	0.003000	0.11579	0.044000	0.14063	2.988000	0.49386	0.584000	0.29591	-0.217000	0.12591	CGG		0.468	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		24	114	0	0	0	1	0	24	114					A	135275446	G	A	135275446	3	1	327	1	0	0	0	0	1	0	0	0	16715	1144	40	1	1186	1	TTF1	9	135275446	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	99534405	135275446	5937985	33	32481											
HNRNPF	3185	broad.mit.edu	37	chr10	43882166	43882166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggctctccaggccactGtaagtggcctgggcagcaga	14	12	1	1	rs375590998		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:43882166G>A	ENST00000544000.1	-	4	1574	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000443950.2_Silent_p.Y389Y|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Silent_p.Y389Y	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537																																						ENST00000443950.2																			4	Substitution - coding silent(4)	p.Y389Y(4)	lung(4)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(1165-1167)taC>taT		heterogeneous nuclear ribonucleoprotein F		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	59	72	68		1167,1167,1167,1167,1167,1167	-0.4	0.8	10		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HNRNPF	NM_001098204.1,NM_001098205.1,NM_001098206.1,NM_001098207.1,NM_001098208.1,NM_004966.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	389/416,389/416,389/416,389/416,389/416,389/416	43882166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882166G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1167C>T	10.37:g.43882166G>A						HNRNPF_ENST00000337970.3_Silent_p.Y389Y|HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000544000.1_Silent_p.Y389Y	p.Y389Y	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1653	-			389					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.1167C>T	CCDS7204.1																																																																																				0.537	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			113	141	0	0	0	1	0	113	141					A	43882166	G	A	43882166	2	1	327	1	0	0	0	0	0	0	0	1	7265	1372	48	2		2	HNRNPF	10	43882166	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		43882166	91652581	34	32482											
PAX2	5076	broad.mit.edu	37	chr10	102541110	102541110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccaatggtgagaagaggAaacgtgatgaaggtagggag	17	4	0	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:102541110A>G	ENST00000428433.1	+	5	1154	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	PAX2_ENST00000556085.1_Missense_Mutation_p.K201E|PAX2_ENST00000370296.2_Missense_Mutation_p.K202E|PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	202					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAGAAGAGGAAACGTGATGA	0.587																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(604-606)Aaa>Gaa		paired box 2							147	131	137					10																	102541110		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102541110A>G		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"Paired boxes", "Homeoboxes / PRD class"	8616	protein-coding gene	gene with protein product		167409	"paired box gene 2"			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.604A>G	10.37:g.102541110A>G	ENSP00000396259:p.Lys202Glu					PAX2_ENST00000556085.1_Missense_Mutation_p.K201E|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000428433.1_Missense_Mutation_p.K202E|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E	p.K202E			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	5	1154	+		Colorectal(252;0.234)	202					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.604A>G	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592211	0.86953	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256	D;D;D;D;D;D	0.98028	-4.06;-4.15;-4.15;-4.12;-4.12;-4.67	5.61	5.61	0.85477	.	0.242156	0.39834	N	0.001245	D	0.98388	0.9464	M	0.72353	2.195	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.988;0.998;0.998	D;D;D;D	0.85130	0.997;0.99;0.993;0.996	D	0.98936	1.0789	10	0.48119	T	0.1	.	14.9901	0.71381	1.0:0.0:0.0:0.0	.	201;202;202;202	G3V5U4;Q02962-3;Q02962;Q02962-4	.;.;PAX2_HUMAN;.	E	94;202;202;202;202;201;202	ENSP00000359319:K202E;ENSP00000396259:K202E;ENSP00000355069:K202E;ENSP00000347385:K202E;ENSP00000452527:K201E;ENSP00000398652:K202E	ENSP00000347385:K202E	K	+	1	0	PAX2	102531100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.131000	0.65755	0.533000	0.62120	AAA		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				26	178	0	0	0	1	0	26	178					G	102541110	A	G	102541110	3	3	327	1	0	0	0	0	1	0	0	0	11479	247	9	3	622	3	PAX2	10	102541110	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	58658944	102541110	32993637	35	32483											
PWWP2B	170394	broad.mit.edu	37	chr10	134219372	134219372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcgcgtcagcgccctcGgtgtccagagaggctcgcca	14	16	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:134219372G>A	ENST00000305233.5	+	2	1427	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PWWP2B_ENST00000368609.4_Silent_p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	456										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCGCCCTCGGTGTCCAGAG	0.701																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1366-1368)tcG>tcA		PWWP domain containing 2B							38	38	38					10																	134219372		2198	4296	6494	SO:0001819	synonymous_variant	170394							g.chr10:134219372G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1368G>A	10.37:g.134219372G>A						PWWP2B_ENST00000368609.4_Silent_p.S456S	p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1427	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	456					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.1368G>A	CCDS7667.2																																																																																				0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		34	58	0	0	0	1	0	34	58					A	134219372	G	A	134219372	2	1	327	1	0	0	0	0	0	0	0	1	12846	1103	39	1		1	PWWP2B	10	134219372	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	31678262	134219372	1315375	36	32484											
OR51Q1	390061	broad.mit.edu	37	chr11	5444223	5444223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggtgtatctatgactcatCgctttgccaagcatgcctct	8	11	3	1	rs376977023		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:5444223C>T	ENST00000300778.4	+	1	883	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	265						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(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACTCATCGCTTTGCCAA	0.517																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(793-795)Cgc>Tgc		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)		C	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	134	110	118		793	4.1	0.8	11		118	0,8594		0,0,4297	no	missense	OR51Q1	NM_001004757.2	180	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	265/318	5444223	2,12994	2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444223C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.793C>T	11.37:g.5444223C>T	ENSP00000300778:p.Arg265Cys					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.R265C	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	883	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	265					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.793C>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008859	0.35415	4.54E-4	0.0	ENSG00000167360	ENST00000300778	T	0.37411	1.2	5.0	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.45013	0.1321	M	0.89715	3.055	0.36616	D	0.875486	P	0.38535	0.635	B	0.35114	0.196	T	0.63129	-0.6706	10	0.87932	D	0	.	11.5665	0.50809	0.3238:0.6762:0.0:0.0	.	265	Q8NH59	O51Q1_HUMAN	C	265	ENSP00000300778:R265C	ENSP00000300778:R265C	R	+	1	0	OR51Q1	5400799	0.000000	0.05858	0.773000	0.31616	0.954000	0.61252	-0.604000	0.05667	1.318000	0.45170	0.380000	0.24917	CGC		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		26	47	0	0	0	1	0	26	47					T	5444223	C	T	5444223	3	4	327	1	0	0	0	0	1	0	0	0	11104	884	31	1	795	1	OR51Q1	11	5444223	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		5444223	129562293	37	32485											
FLRT1	28992	broad.mit.edu	37	chr11	63884997	63884997	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaaaaggccagggctgCgcctccccgactccaacatt	10	16	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:63884997C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.R420C|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCAGGGCTGCGCCTCCCCGA	0.652																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(1258-1260)Cgc>Tgc		fibronectin leucine rich transmembrane protein 1							45	43	44					11																	63884997		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884997C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33713G>A	11.37:g.63884997C>T						MACROD1_ENST00000255681.6_Intron	p.R420C	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	2301	+			392			Fibronectin type-III.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.1258C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033296	0.35893	.	.	ENSG00000126500	ENST00000246841	T	0.52295	0.67	5.4	5.4	0.78164	.	0.389408	0.25842	N	0.027955	T	0.41213	0.1149	L	0.29908	0.895	0.46725	D	0.999175	D	0.56521	0.976	B	0.42653	0.394	T	0.44190	-0.9344	10	0.62326	D	0.03	-22.6107	17.9416	0.89027	0.0:1.0:0.0:0.0	.	392	Q9NZU1	FLRT1_HUMAN	C	420	ENSP00000246841:R420C	ENSP00000246841:R420C	R	+	1	0	FLRT1	63641573	0.982000	0.34865	0.996000	0.52242	0.119000	0.20118	1.184000	0.32053	2.512000	0.84698	0.650000	0.86243	CGC		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		5	26	0	0	0	1	0	5	26					T	63884997	C	T	63884997	1	4	327	0	1	0	0	0	0	0	0	0	5938	768	27	1		1	FLRT1	11	63884997	Intron	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58440774	63884997	71121519	38	32486											
STK38L	23012	broad.mit.edu	37	chr12	27467498	27467498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggaaacacagttctaCatttcagagactgttctggc	10	8	3	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:27467498C>T	ENST00000389032.3	+	7	748	c.579C>T	c.(577-579)taC>taT	p.Y193Y	STK38L_ENST00000539577.1_Silent_p.Y100Y	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CACAGTTCTACATTTCAGAGA	0.383																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(577-579)taC>taT		serine/threonine kinase 38 like							117	105	109					12																	27467498		2203	4300	6503	SO:0001819	synonymous_variant	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27467498C>T	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.579C>T	12.37:g.27467498C>T						STK38L_ENST00000539577.1_Silent_p.Y100Y	p.Y193Y	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			7	748	+	Colorectal(261;0.0847)		193			Protein kinase.			Silent	SNP	ENST00000389032.3	37	c.579C>T	CCDS31761.1																																																																																				0.383	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		9	43	0	0	0	1	0	9	43					T	27467498	C	T	27467498	2	4	327	1	0	0	0	0	0	0	0	1	15303	489	17	2		2	STK38L	12	27467498	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		27467498	106384397	39	32487											
TMEM132B	114795	broad.mit.edu	37	chr12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccctgcagtaccagcacGccacagtgcgtgtcctcacc	9	18	1	0	rs550549644		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:126135302G>A	ENST00000299308.3	+	7	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	568						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(1702-1704)Gcc>Acc		transmembrane protein 132B							75	85	81					12																	126135302		2184	4293	6477	SO:0001583	missense	114795					integral to membrane		g.chr12:126135302G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1702G>A	12.37:g.126135302G>A	ENSP00000299308:p.Ala568Thr					TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	p.A568T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1710	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		568					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1702G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219767	0.58560	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.19394	2.15;2.15	5.15	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.17577	0.0422	L	0.59436	1.845	0.80722	D	1	P	0.40515	0.719	B	0.23018	0.043	T	0.03957	-1.0989	10	0.41790	T	0.15	.	13.8152	0.63287	0.0744:0.0:0.9256:0.0	.	568	Q14DG7	T132B_HUMAN	T	568;80	ENSP00000299308:A568T;ENSP00000440436:A80T	ENSP00000299308:A568T	A	+	1	0	TMEM132B	124701255	1.000000	0.71417	0.043000	0.18650	0.693000	0.40251	9.545000	0.98095	1.137000	0.42214	0.655000	0.94253	GCC		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		9	67	0	0	0	1	0	9	67					A	126135302	G	A	126135302	3	1	327	1	0	0	0	0	1	0	0	0	16043	1087	38	1	1728	1	TMEM132B	12	126135302	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	98667804	126135302	7716593	40	32488											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G													atgggtccccagccatcggcINSgggtgaacccacccacactg							TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	127						11	127	---	---	---	---	G	105174271	-	G	105174270	7	5	327	1	0	1	1	0	0	0	0	0	7734	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08		105174270	2175270	41	32489											
GSPT1	2935	broad.mit.edu	37	chr16	11981588	11981589	+	Frame_Shift_Ins	INS	-	-	T													cgttcttcctgatttgtgtcINStaaggcccaagacaagtacc							TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:11981588_11981589insT	ENST00000563468.1	-	5	407_408	c.381_382insA	c.(379-384)ttagacfs	p.D128fs	GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.D265fs|GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.D128fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Frame_Shift_Ins_p.D266fs|GSPT1_ENST00000564790.1_5'Flank			P15170	ERF3A_HUMAN	G1 to S phase transition 1	128	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TGATTTGTGTCTAAGGCCCAAG	0.356																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(793-798)ttacacfs		G1 to S phase transition 1																																				SO:0001589	frameshift_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:11981588_11981589insT	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.382dupA	16.37:g.11981589_11981589dupT	ENSP00000454351:p.Asp128fs					GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.H128fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.H265fs|GSPT1_ENST00000563468.1_Frame_Shift_Ins_p.H128fs	p.H266fs	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			7	994_995	-			128					J3KQG6|Q96GF2	Frame_Shift_Ins	INS	ENST00000563468.1	37	c.795_796insA	CCDS45414.1																																																																																				0.356	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421513.1	NM_002094		33	100						33	100	---	---	---	---	T	11981589	-	T	11981588	7	5	327	1	0	1	1	0	0	0	0	0	6826	913	32	0	1153	0	GSPT1	16	11981588	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08		11981588	78373165	42	32490											
SRCAP	10847	broad.mit.edu	37	chr16	30736149	30736149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaccctgggcccggccGcagctcagaccttggcgctg	12	17	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:30736149G>A	ENST00000262518.4	+	25	5789	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A1740T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1644T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1802	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)			gggcccggccgcagctcagac	0.637																																						ENST00000262518.4																			0				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						c.(5404-5406)Gca>Aca		Snf2-related CREBBP activator protein							43	40	41					16																	30736149		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736149G>A	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.5404G>A	16.37:g.30736149G>A	ENSP00000262518:p.Ala1802Thr					SRCAP_ENST00000395059.2_Missense_Mutation_p.A1740T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A1644T	p.A1802T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5789	+			1802			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.5404G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748329	0.30955	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91792	-2.83;-2.91;-2.88	5.62	-1.43	0.08884	.	0.608225	0.14682	N	0.304703	T	0.79805	0.4509	N	0.19112	0.55	0.24359	N	0.994884	B;B;B	0.13145	0.003;0.007;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.65747	-0.6093	10	0.40728	T	0.16	-1.1051	0.3179	0.00298	0.2515:0.2136:0.2971:0.2378	.	1644;1740;1802	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1802;1740;1644	ENSP00000262518:A1802T;ENSP00000378499:A1740T;ENSP00000343042:A1644T	ENSP00000262518:A1802T	A	+	1	0	SRCAP	30643650	0.000000	0.05858	0.406000	0.26421	0.875000	0.50365	0.199000	0.17237	0.046000	0.15833	-0.793000	0.03317	GCA		0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		4	72	0	0	0	1	0	4	72					A	30736149	G	A	30736149	3	1	327	1	0	0	0	0	1	0	0	0	15134	1087	38	1	5494	1	SRCAP	16	30736149	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	18754561	30736149	59618604	43	32491											
SPG7	6687	broad.mit.edu	37	chr16	89620236	89620236	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaggaaggtcacccgcatCgcctactccatggtgaagca	11	13	1	2	rs140356355	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:89620236C>T	ENST00000268704.2	+	15	1986	c.1971C>T	c.(1969-1971)atC>atT	p.I657I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	657					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)		TCACCCGCATCGCCTACTCCA	0.677																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1969-1971)atC>atT		spastic paraplegia 7 (pure and complicated autosomal recessive)		T		0,4396		0,0,2198	96	75	82		1971	-10.1	0	16	dbSNP_134	82	1,8599		0,1,4299	no	coding-synonymous	SPG7	NM_003119.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		657/796	89620236	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89620236C>T	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.1971C>T	16.37:g.89620236C>T							p.I657I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	15	1986	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	657					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1971C>T	CCDS10977.1																																																																																				0.677	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		34	115	0	0	0	1	0	34	115					T	89620236	C	T	89620236	2	4	327	1	0	0	0	0	0	0	0	1	15043	874	31	1		1	SPG7	16	89620236	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58884087	89620236	734517	44	32492											
DULLARD	23399	broad.mit.edu	37	chr17	7150176	7150176	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggacaggatgtttgtctatTaccacctacagaggaacaag	10	9	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7150176T>C	ENST00000573600.1	-	5	715	c.294A>G	c.(292-294)gtA>gtG	p.V98V	CTDNEP1_ENST00000318988.6_Silent_p.V98V|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000574322.1_Silent_p.V98V|RP1-4G17.5_ENST00000577138.1_3'UTR			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	98	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTTTGTCTATTACCACCTACA	0.512																																						ENST00000573600.1																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gtA>gtG		CTD nuclear envelope phosphatase 1							114	131	125					17																	7150176		2202	4299	6501	SO:0001819	synonymous_variant	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7150176T>C	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	19085	protein-coding gene	gene with protein product	"C-terminal domain nuclear envelope phosphatase 1"	610684	"dullard homolog (Xenopus laevis)"	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.294A>G	17.37:g.7150176T>C						CTDNEP1_ENST00000574322.1_Silent_p.V98V|CTDNEP1_ENST00000572043.1_5'UTR|CTDNEP1_ENST00000318988.6_Silent_p.V98V|RP1-4G17.5_ENST00000577138.1_3'UTR	p.V98V			O95476	CNEP1_HUMAN			5	715	-			98			FCP1 homology.		D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	37	c.294A>G	CCDS11093.1																																																																																				0.512	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		154	166	0	0	0	1	0	154	166					C	7150176	T	C	7150176	2	2	327	1	0	0	0	0	0	0	0	1	4799	1741	61	3		3	DULLARD	17	7150176	Silent	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		7150176	74045034	45	32493											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	5	0	0	0	1	0	45	5					C	7578190	T	C	7578190	3	2	327	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	428014	7578190	73617020	46	32494											
ELP2	55250	broad.mit.edu	37	chr18	33738840	33738840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccactgtccctgcattgGgattatcaaataaagctgtc	9	10	1	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr18:33738840G>T	ENST00000358232.6	+	14	1570	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	503					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCCTGCATTGGGATTATCAAA	0.333																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(1507-1509)Gga>Tga		elongator acetyltransferase complex subunit 2							70	69	70					18																	33738840		2203	4300	6503	SO:0001587	stop_gained	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33738840G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1507G>T	18.37:g.33738840G>T	ENSP00000350967:p.Gly503*					ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*	p.G503*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			14	1570	+			503					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	ENST00000358232.6	37	c.1507G>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	39	7.620694	0.98393	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.3846	17.2619	0.87072	0.0:0.0:1.0:0.0	.	.	.	.	X	503;477;568;433;498;433	.	ENSP00000316051:G498X	G	+	1	0	ELP2	31992838	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	8.993000	0.93524	2.761000	0.94854	0.585000	0.79938	GGA		0.333	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		23	20	1	0	9.80776e-20	1	1.04207e-19	23	20					T	33738840	G	T	33738840	4	4	327	1	0	0	0	0	0	1	0	0	5080	1233	43	4	1561	4	ELP2	18	33738840	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		33738840	44338408	47	32495											
ZNF560	147741	broad.mit.edu	37	chr19	9577986	9577986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctttaccacatttcttaCattgatagagtctctcttct	4	10	4	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:9577986C>T	ENST00000301480.4	-	10	1850	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	546					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTTCTTACATTGATAGAG	0.398																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1636-1638)tGt>tAt		zinc finger protein 560							96	93	94					19																	9577986		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577986C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1637G>A	19.37:g.9577986C>T	ENSP00000301480:p.Cys546Tyr						p.C546Y	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1850	-			546					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1637G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111176	0.37242	.	.	ENSG00000198028	ENST00000301480	D	0.85088	-1.94	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91520	0.7322	M	0.83012	2.62	0.29984	N	0.817448	D	0.89917	1.0	D	0.97110	1.0	D	0.85618	0.1262	9	0.87932	D	0	.	10.1291	0.42667	0.0:1.0:0.0:0.0	.	546	Q96MR9	ZN560_HUMAN	Y	546	ENSP00000301480:C546Y	ENSP00000301480:C546Y	C	-	2	0	ZNF560	9438986	0.987000	0.35691	0.012000	0.15200	0.006000	0.05464	3.711000	0.54868	1.446000	0.47643	0.491000	0.48974	TGT		0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		58	72	0	0	0	1	0	58	72					T	9577986	C	T	9577986	3	4	327	1	0	0	0	0	1	0	0	0	17988	478	17	2	739	2	ZNF560	19	9577986	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		9577986	49550997	48	32496											
PPAN	56342	broad.mit.edu	37	chr19	10220614	10220614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagttgttcctgtgggcGcgagtcgcgggatgaagaag	16	7	1	2	rs149200523	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:10220614G>A	ENST00000253107.7	+	7	722	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	P2RY11_ENST00000321826.4_5'Flank|SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.A153T	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	206	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCCTGTGGGCGCGAGTCGCGG	0.627																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(616-618)Gcg>Acg				G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	121	125	123		616,616,616	5.3	0.5	19	dbSNP_134	123	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense,missense	PPAN,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_020230.5	58,58,58	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	possibly-damaging,possibly-damaging,possibly-damaging	206/795,206/521,206/474	10220614	11,12995	2203	4300	6503	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10220614G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.616G>A	19.37:g.10220614G>A	ENSP00000253107:p.Ala206Thr					PPAN_ENST00000393793.1_Missense_Mutation_p.A153T|PPAN_ENST00000253107.7_Missense_Mutation_p.A206T|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T	p.A206T	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		7	788	+			206			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.616G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.825051	0.71143	2.27E-4	0.001163	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.33	5.33	0.75918	Brix domain (3);	.	.	.	.	T	0.29061	0.0722	L	0.32530	0.975	0.36017	D	0.838459	D;D;D	0.69078	0.997;0.988;0.988	P;P;P	0.55260	0.772;0.645;0.645	T	0.20306	-1.0279	9	0.42905	T	0.14	-21.1208	8.2751	0.31868	0.1707:0.0:0.8293:0.0	.	206;206;206	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	T	206;206;206;206;206;153;144	ENSP00000411918:A206T;ENSP00000377385:A206T;ENSP00000253107:A206T;ENSP00000450710:A206T;ENSP00000377382:A153T;ENSP00000410485:A144T	ENSP00000253107:A206T	A	+	1	0	PPAN;PPAN-P2RY11	10081614	0.377000	0.25106	0.537000	0.28052	0.539000	0.34962	2.079000	0.41577	2.503000	0.84419	0.561000	0.74099	GCG		0.627	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		7	280	0	0	0	1	0	7	280					A	10220614	G	A	10220614	3	1	327	1	0	0	0	0	1	0	0	0	12288	1087	38	1	642	1	PPAN	19	10220614	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	642628	10220614	48908369	49	32497											
IL12RB1	3594	broad.mit.edu	37	chr19	18184406	18184406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgaggctgtggggggTtttctgcaatcagaaccaaa	12	9	3	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:18184406T>G	ENST00000600835.2	-	9	1002	c.704A>C	c.(703-705)aAc>aCc	p.N235T	IL12RB1_ENST00000322153.7_Missense_Mutation_p.N235T|IL12RB1_ENST00000593993.2_Missense_Mutation_p.N235T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	235					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|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)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGTGGGGGGTTTTCTGCAAT	0.512																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(703-705)aAc>aCc		interleukin 12 receptor, beta 1							34	31	32					19																	18184406		2203	4300	6503	SO:0001583	missense	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18184406T>G	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.704A>C	19.37:g.18184406T>G	ENSP00000470788:p.Asn235Thr					IL12RB1_ENST00000322153.6_Missense_Mutation_p.N235T|IL12RB1_ENST00000593993.1_Missense_Mutation_p.N235T|IL12RB1_ENST00000430026.2_Missense_Mutation_p.N235T	p.N235T			P42701	I12R1_HUMAN			9	1007	-			235			Fibronectin type-III 2.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.704A>C	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.789149	0.00623	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.57273	0.41;0.41	3.06	-6.12	0.02124	.	3.476630	0.01080	N	0.004970	T	0.30008	0.0751	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.005	B;B;B	0.12156	0.007;0.002;0.003	T	0.29579	-1.0007	10	0.13470	T	0.59	0.005	0.8388	0.01145	0.3736:0.1015:0.2224:0.3026	.	235;235;235	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	T	235	ENSP00000403103:N235T;ENSP00000314425:N235T	ENSP00000314425:N235T	N	-	2	0	IL12RB1	18045406	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.131000	0.00148	-2.977000	0.00284	-0.396000	0.06452	AAC		0.512	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			7	28	0	0	0	1	0	7	28					G	18184406	T	G	18184406	3	3	327	1	0	0	0	0	1	0	0	0	7626	1725	60	5	1453	5	IL12RB1	19	18184406	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	7963792	18184406	40944577	50	32498											
ATP4A	495	broad.mit.edu	37	chr19	36049963	36049963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgggacacagtcatgCggttctgagtgagagtccct	13	9	2	3	rs369356784		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:36049963C>T	ENST00000262623.3	-	8	1215	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	396					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CACAGTCATGCGGTTCTGAGT	0.592																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1186-1188)cGc>cAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						266	214	232					19																	36049963		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36049963C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1187G>A	19.37:g.36049963C>T	ENSP00000262623:p.Arg396His						p.R396H	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1215	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		396					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1187G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511698	0.85389	.	.	ENSG00000105675	ENST00000262623	D	0.96300	-3.97	3.17	3.17	0.36434	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.181069	0.32459	N	0.006062	D	0.97393	0.9147	M	0.71296	2.17	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.97551	1.0092	10	0.87932	D	0	.	12.154	0.54066	0.0:1.0:0.0:0.0	.	396	P20648	ATP4A_HUMAN	H	396	ENSP00000262623:R396H	ENSP00000262623:R396H	R	-	2	0	ATP4A	40741803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.543000	0.82106	1.769000	0.52152	0.462000	0.41574	CGC		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	244	0	0	0	1	0	5	244					T	36049963	C	T	36049963	3	4	327	1	0	0	0	0	1	0	0	0	1145	768	27	1	1980	1	ATP4A	19	36049963	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	17865557	36049963	23079020	51	32499											
KIR2DL3	3804	broad.mit.edu	37	chr19	55255285	55255285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcccagccgggccccaCggttctggcaggagagagcg	15	15	2	1	rs575503782	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:55255285C>T	ENST00000342376.3	+	4	444	c.413C>T	c.(412-414)aCg>aTg	p.T138M	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	138					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCGGGCCCCACGGTTCTGGCA	0.567													.|||	3	0.000599042	0.0	0.0	5008	,	,		12390	0.0		0.0	False		,,,				2504	0.0031					ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(412-414)aCg>aTg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							48	58	54					19																	55255285		1216	2373	3589	SO:0001583	missense	3804							g.chr19:55255285C>T	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.413C>T	19.37:g.55255285C>T	ENSP00000342215:p.Thr138Met					KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M	p.T138M	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	4	444	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.413C>T	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	3.185	-0.167064	0.06461	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.13538	2.58;2.58	1.28	-2.56	0.06268	Immunoglobulin subtype (2);Immunoglobulin-like fold (2);	.	.	.	.	T	0.10165	0.0249	L	0.45051	1.395	0.09310	N	1	B;P;B;B	0.36712	0.012;0.566;0.032;0.032	B;B;B;B	0.36244	0.018;0.22;0.022;0.022	T	0.09058	-1.0692	9	0.66056	D	0.02	.	3.7601	0.08601	0.0:0.2806:0.3988:0.3206	.	138;138;138;138	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	M	138	ENSP00000342215:T138M;ENSP00000415758:T138M	ENSP00000342215:T138M	T	+	2	0	KIR2DL3	59947097	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-1.905000	0.01591	-1.902000	0.01094	0.184000	0.17185	ACG		0.567	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			30	13	0	0	0	1	0	30	13					T	55255285	C	T	55255285	3	4	327	1	0	0	0	0	1	0	0	0	8317	536	19	1	427	1	KIR2DL3	19	55255285	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	19205322	55255285	3873698	52	32500											
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-													gtggcgacagggcgatccccCcgccgccgccgccgcagccc							TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(238-243)ggg>gg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	57,2761		4,39,10,1217,288					,,	4.4	1			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	9949							g.chrX:109561058_109561060delCCG	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del					AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR	p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	407_409	-			80			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.240_242delCGG	CCDS14551.1																																																																																				0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			2	4						2	4	---	---	---	---	-	109561060	CCG	-	109561058	7	5	327	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-HT-A61B-01A-11D-A29Q-08		109561058	45709502	53	32501											
CUL4B	8450	broad.mit.edu	37	chrX	119694140	119694140	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggattcCtcagccatcttcgcatcaaa	13	9	3	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:119694140C>G	ENST00000404115.3	-	3	809	c.408G>C	c.(406-408)gaG>gaC	p.E136D	CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D|CUL4B_ENST00000371322.5_Missense_Mutation_p.E118D	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	136	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaTTCCTCAGCCATCT	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(352-354)gaG>gaC		cullin 4B							69	62	65					X																	119694140		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694140C>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.408G>C	X.37:g.119694140C>G	ENSP00000384109:p.Glu136Asp					CUL4B_ENST00000404115.3_Missense_Mutation_p.E136D|CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D	p.E118D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	415	-			136			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.354G>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944632	0.34283	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.70282	-0.46;-0.46;-0.47	5.66	3.89	0.44902	.	0.047359	0.85682	D	0.000000	T	0.67618	0.2912	N	0.14661	0.345	0.49582	D	0.999809	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	T	0.64676	-0.6351	9	.	.	.	-13.3655	9.1474	0.36942	0.0:0.747:0.0:0.253	.	136;118	Q13620;Q13620-1	CUL4B_HUMAN;.	D	118;123;136	ENSP00000360373:E118D;ENSP00000338919:E123D;ENSP00000384109:E136D	.	E	-	3	2	CUL4B	119578168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.586000	0.60984	1.164000	0.42652	0.523000	0.50628	GAG		0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		10	32	0	0	0	1	0	10	32					G	119694140	C	G	119694140	3	3	327	1	0	0	0	0	1	0	0	0	4058	680	24	4	2413	4	CUL4B	23	119694140	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	10133082	119694140	35576420	54	32502											
IGFN1	91156	broad.mit.edu	37	chr1	201186507	201186507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggggccccggcagcGcccacatcctgggctacctg	12	19	0	0	rs146376343		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:201186507G>A	ENST00000335211.4	+	17	9818	c.9688G>A	c.(9688-9690)Gcc>Acc	p.A3230T	IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	773						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						CCCCGGCAGCGCCCACATCCT	0.662																																						ENST00000335211.4																			0				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						c.(9688-9690)Gcc>Acc		immunoglobulin-like and fibronectin type III domain containing 1		G	THR/ALA	0,4406		0,0,2203	70	68	69		9688	2.8	0.4	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFN1	NM_001164586.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3230/3709	201186507	1,13005	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201186507G>A	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.9688G>A	1.37:g.201186507G>A	ENSP00000334714:p.Ala3230Thr					IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	p.A3230T	NM_001164586.1	NP_001158058.1					17	9818	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9688G>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.778562|1.778562	0.31502|0.31502	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|.	0.57907|.	0.37;0.37|.	4.68|4.68	2.78|2.78	0.32641|0.32641	.|.	0.471504|.	0.19995|.	N|.	0.101466|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.21194|0.21194	0.64|0.64	0.22240|0.22240	N|N	0.999265|0.999265	P|.	0.36378|.	0.55|.	B|.	0.31290|.	0.127|.	T|T	0.22173|0.22173	-1.0224|-1.0224	10|5	0.35671|.	T|.	0.21|.	.|.	4.3756|4.3756	0.11269|0.11269	0.1976:0.0:0.5757:0.2266|0.1976:0.0:0.5757:0.2266	.|.	3230|.	F8WAI1|.	.|.	T|H	3230;390|647	ENSP00000334714:A3230T;ENSP00000295591:A390T|.	ENSP00000295591:A390T|.	A|R	+|+	1|2	0|0	IGFN1|IGFN1	199453130|199453130	0.053000|0.053000	0.20554|0.20554	0.438000|0.438000	0.26821|0.26821	0.215000|0.215000	0.24574|0.24574	0.267000|0.267000	0.18552|0.18552	0.385000|0.385000	0.24970|0.24970	-0.224000|-0.224000	0.12420|0.12420	GCC|CGC		0.662	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		71	83	0	0	0	1	0	71	83					A	201186507	G	A	201186507	3	1	328	1	0	0	0	0	1	0	0	0	7590	1087	38	1	9750	1	IGFN1	1	201186507	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		201186507	48064114	1	32503											
CR2	1380	broad.mit.edu	37	chr1	207640156	207640156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacatggtgattctgtgaCatttgcctgtaaaaccaact	8	9	1	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:207640156C>T	ENST00000367058.3	+	2	533	c.344C>T	c.(343-345)aCa>aTa	p.T115I	CR2_ENST00000367057.3_Missense_Mutation_p.T115I|CR2_ENST00000367059.3_Missense_Mutation_p.T115I|CR2_ENST00000458541.2_Missense_Mutation_p.T115I	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	115	Sushi 2. {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						GATTCTGTGACATTTGCCTGT	0.423																																						ENST00000367057.3																			0				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						c.(343-345)aCa>aTa		complement component (3d/Epstein Barr virus) receptor 2							105	101	102					1																	207640156		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640156C>T	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.344C>T	1.37:g.207640156C>T	ENSP00000356025:p.Thr115Ile					CR2_ENST00000367059.3_Missense_Mutation_p.T115I|CR2_ENST00000458541.2_Missense_Mutation_p.T115I|CR2_ENST00000367058.3_Missense_Mutation_p.T115I	p.T115I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	533	+			115			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.344C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019630	0.35606	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.0	3.02	0.34903	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73297	0.3569	M	0.74647	2.275	0.38494	D	0.948041	P;D;D	0.76494	0.952;0.997;0.999	P;D;D	0.72625	0.863;0.975;0.978	T	0.74222	-0.3735	9	0.49607	T	0.09	.	6.5574	0.22468	0.1759:0.7306:0.0:0.0936	.	115;115;115	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	I	115	ENSP00000356025:T115I;ENSP00000356024:T115I;ENSP00000356026:T115I;ENSP00000404222:T115I	ENSP00000356024:T115I	T	+	2	0	CR2	205706779	0.837000	0.29446	0.997000	0.53966	0.025000	0.11179	0.298000	0.19120	1.318000	0.45170	0.655000	0.94253	ACA		0.423	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		25	52	0	0	0	1	0	25	52					T	207640156	C	T	207640156	3	4	328	1	0	0	0	0	1	0	0	0	3842	478	17	2	350	2	CR2	1	207640156	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	6453649	207640156	41610465	2	32504											
EXOC8	149371	broad.mit.edu	37	chr1	231472849	231472851	+	In_Frame_Del	DEL	CCA	CCA	-													ccgctgaggcagccaggtagCcaccaacaagcaatcgttca					rs142526535		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:231472849_231472851delCCA	ENST00000360394.2	-	1	727_729	c.641_643delTGG	c.(640-645)gtggct>gct	p.V214del	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_In_Frame_Del_p.V210del|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	214	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCAGGTAGCCACCAACAAGCA	0.547																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(628-633)gct>g		exocyst complex component 8																																				SO:0001651	inframe_deletion	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472849_231472851delCCA	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.641_643delTGG	1.37:g.231472852_231472854delCCA	ENSP00000353564:p.Val214del					SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_In_Frame_Del_p.VA214del	p.VA210del			Q8IYI6	EXOC8_HUMAN			1	747_749	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	214			PH.		B3KU33|Q5TE82	In_Frame_Del	DEL	ENST00000360394.2	37	c.629_631delTGG	CCDS1593.1																																																																																				0.547	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		43	73						43	73	---	---	---	---	-	231472851	CCA	-	231472849	7	5	328	1	0	1	0	1	0	0	0	0	5311	739	26	0	1538	0	EXOC8	1	231472849	In_Frame_Del	DEL	CCA	TCGA-HT-A61C-01A-11D-A29Q-08	23832693	231472849	17777772	3	32505											
HEATR5B	54497	broad.mit.edu	37	chr2	37289163	37289163	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattttgggcagcagttcGtaaaagatcttcagcaatac	9	8	2	1	rs369632588		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:37289163G>A	ENST00000233099.5	-	11	1710	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	539						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)				GCAGCAGTTCGTAAAAGATCT	0.348																																						ENST00000233099.5																			0				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						c.(1615-1617)Cga>Tga		HEAT repeat containing 5B		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	102	107	105		1615	3.9	1	2		105	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HEATR5B	NM_019024.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		539/2072	37289163	3,13003	2203	4300	6503	SO:0001587	stop_gained	54497						binding	g.chr2:37289163G>A	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.1615C>T	2.37:g.37289163G>A	ENSP00000233099:p.Arg539*					HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			11	1710	-		all_hematologic(82;0.21)	539					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.1615C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	40	8.041390	0.98624	4.54E-4	1.16E-4	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	5.7	3.87	0.44632	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-10.1497	14.6232	0.68602	0.0:0.0:0.6219:0.3781	.	.	.	.	X	539	.	ENSP00000233099:R539X	R	-	1	2	HEATR5B	37142667	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.720000	0.54933	0.725000	0.32318	0.655000	0.94253	CGA		0.348	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		30	51	0	0	0	1	0	30	51					A	37289163	G	A	37289163	4	1	328	1	0	0	0	0	0	1	0	0	7032	1153	40	1	4704	1	HEATR5B	2	37289163	Nonsense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		37289163	205910210	4	32506											
SPRED2	200734	broad.mit.edu	37	chr2	65541089	65541089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctgaggagtccacgTaggggtagttgtagtcatgc	14	7	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:65541089T>G	ENST00000356388.4	-	6	992	c.803A>C	c.(802-804)tAc>tCc	p.Y268S	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	268					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						GGAGTCCACGTAGGGGTAGTT	0.677																																						ENST00000356388.4																			0				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						c.(802-804)tAc>tCc		sprouty-related, EVH1 domain containing 2							60	58	59					2																	65541089		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541089T>G	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.803A>C	2.37:g.65541089T>G	ENSP00000348753:p.Tyr268Ser					SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S	p.Y268S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	992	-			268					A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.803A>C	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733503	0.48939	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.76316	-1.0;-1.0;-1.01;-0.02	5.75	4.59	0.56863	.	0.178462	0.51477	D	0.000094	T	0.81153	0.4763	M	0.75447	2.3	0.58432	D	0.999999	B;D	0.57899	0.035;0.981	B;P	0.51701	0.017;0.677	T	0.78285	-0.2263	10	0.22109	T	0.4	-30.4117	12.2608	0.54649	0.1274:0.0:0.0:0.8726	.	265;268	E9PEP0;Q7Z698	.;SPRE2_HUMAN	S	268;265;283;150	ENSP00000348753:Y268S;ENSP00000393697:Y265S;ENSP00000390595:Y283S;ENSP00000407627:Y150S	ENSP00000348753:Y268S	Y	-	2	0	SPRED2	65394593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.332000	0.59279	0.989000	0.38761	0.533000	0.62120	TAC		0.677	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			55	96	0	0	0	1	0	55	96					G	65541089	T	G	65541089	3	3	328	1	0	0	0	0	1	0	0	0	15092	1638	57	5	457	5	SPRED2	2	65541089	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	28251926	65541089	177658284	5	32507											
MYO7B	4648	broad.mit.edu	37	chr2	128384765	128384765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcctggccaggcccccGcctgcccaagacgcagctga	10	19	1	2	rs372450782		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:128384765G>A	ENST00000409816.2	+	31	4294	c.4262G>A	c.(4261-4263)cGc>cAc	p.R1421H	MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1421H|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1421	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		CCAGGCCCCCGCCTGCCCAAG	0.617																																						ENST00000389524.4																			0				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						c.(4261-4263)cGc>cAc		myosin VIIB		G	HIS/ARG	0,3878		0,0,1939	23	25	24		4262	2.8	1	2		24	1,8271		0,1,4135	no	missense	MYO7B	NM_001080527.1	29	0,1,6074	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1421/2117	128384765	1,12149	1939	4136	6075	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384765G>A		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.4262G>A	2.37:g.128384765G>A	ENSP00000386461:p.Arg1421His					MYO7B_ENST00000409816.2_Missense_Mutation_p.R1421H|MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H	p.R1421H			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	32	4315	+	Colorectal(110;0.1)		1421			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4262G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	14.22	2.469363	0.43839	0.0	1.21E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	4.63	2.82	0.32997	FERM domain (1);	0.515806	0.20916	N	0.083362	D	0.85496	0.5710	L	0.51422	1.61	0.31578	N	0.655477	D	0.54207	0.965	B	0.38712	0.28	D	0.84308	0.0509	10	0.56958	D	0.05	.	10.6572	0.45682	0.1566:0.0:0.8434:0.0	.	1421	Q6PIF6	MYO7B_HUMAN	H	1421;1421;1421;274	ENSP00000374175:R1421H;ENSP00000415090:R1421H;ENSP00000386461:R1421H;ENSP00000386850:R274H	ENSP00000374175:R1421H	R	+	2	0	MYO7B	128101235	0.991000	0.36638	0.951000	0.38953	0.379000	0.30106	2.143000	0.42187	0.572000	0.29383	0.561000	0.74099	CGC		0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	13	0	0	0	1	0	6	13					A	128384765	G	A	128384765	3	1	328	1	0	0	0	0	1	0	0	0	10083	1087	38	1	4384	1	MYO7B	2	128384765	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	62843676	128384765	114814608	6	32508											
TTN	7273	broad.mit.edu	37	chr2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcattgatcctttggtgcGtgccaaaacttttggttttc	9	8	0	1	rs554701601	byFrequency	TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:179468882G>A	ENST00000591111.1	-	232	49833	c.49609C>T	c.(49609-49611)Cgc>Tgc	p.R16537C	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18178C|TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16537	Fibronectin type-III 20. {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)	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(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)			CCTTTGGTGCGTGCCAAAACT	0.453													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			4	Substitution - Missense(4)	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)	large_intestine(4)	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						c.(54532-54534)Cgc>Tgc		titin							149	147	147					2																	179468882		1929	4131	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468882G>A	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.49609C>T	2.37:g.179468882G>A	ENSP00000465570:p.Arg16537Cys					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16537C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C	p.R18178C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		282	54756	-			16537			Ig-like 105.		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	ENST00000591111.1	37	c.54532C>T		.	.	.	.	.	.	.	.	.	.	G	11.16	1.556690	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41305	0.1153	N	0.25245	0.725	0.40703	D	0.982507	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.29822	-0.9999	9	0.87932	D	0	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	9113;9238;9305;16537	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15610;9113;9305;9238;9113	ENSP00000343764:R15610C;ENSP00000434586:R9113C;ENSP00000340554:R9305C;ENSP00000352154:R9238C	ENSP00000340554:R9305C	R	-	1	0	TTN	179177127	1.000000	0.71417	0.996000	0.52242	0.784000	0.44337	3.705000	0.54823	2.937000	0.99478	0.650000	0.86243	CGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	80	0	0	0	1	0	47	80					A	179468882	G	A	179468882	3	1	328	1	0	0	0	0	1	0	0	0	16732	1145	40	1	53485	1	TTN	2	179468882	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	51084117	179468882	63730491	7	32509											
COL3A1	1281	broad.mit.edu	37	chr2	189873767	189873767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggtgaaaaagctggcGgttttgccccgtattatgga	14	6	0	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:189873767G>A	ENST00000304636.3	+	48	3813	c.3643G>A	c.(3643-3645)Ggt>Agt	p.G1215S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1215					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)	AAAAGCTGGCGGTTTTGCCCC	0.507																																						ENST00000304636.3																			0				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						c.(3643-3645)Ggt>Agt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						106	113	111					2																	189873767		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189873767G>A	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.3643G>A	2.37:g.189873767G>A	ENSP00000304408:p.Gly1215Ser					COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	p.G1215S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3813	+			1215					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3643G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838787	0.71373	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.89875	-2.45;-2.58	3.71	3.71	0.42584	.	0.000000	0.35466	N	0.003191	T	0.81331	0.4800	N	0.08118	0	0.28364	N	0.920322	D	0.63046	0.992	P	0.51297	0.665	T	0.72354	-0.4319	10	0.07813	T	0.8	.	15.73	0.77794	0.0:0.0:1.0:0.0	.	1215	P02461	CO3A1_HUMAN	S	1215;912	ENSP00000304408:G1215S;ENSP00000315243:G912S	ENSP00000304408:G1215S	G	+	1	0	COL3A1	189582012	0.988000	0.35896	0.096000	0.21009	0.228000	0.25075	3.349000	0.52217	2.369000	0.80426	0.655000	0.94253	GGT		0.507	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	110	0	0	0	1	0	4	110					A	189873767	G	A	189873767	3	1	328	1	0	0	0	0	1	0	0	0	3688	1116	39	1	3833	1	COL3A1	2	189873767	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	10404885	189873767	53325606	8	32510											
NAB1	4664	broad.mit.edu	37	chr2	191537858	191537858	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaaagagatgaattatccCcaaagagaattaaagtggag	11	4	0	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:191537858C>G	ENST00000337386.5	+	6	1446	c.985C>G	c.(985-987)Cca>Gca	p.P329A	NAB1_ENST00000484774.1_Intron|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A|NAB1_ENST00000409641.1_Missense_Mutation_p.P329A|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	329	Necessary for nuclear localization. {ECO:0000250}.				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)			TGAATTATCCCCAAAGAGAAT	0.318																																						ENST00000337386.5																			0				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(985-987)Cca>Gca		NGFI-A binding protein 1 (EGR1 binding protein 1)							201	211	208					2																	191537858		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191537858C>G		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.985C>G	2.37:g.191537858C>G	ENSP00000336894:p.Pro329Ala					NAB1_ENST00000484774.1_Intron|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A|NAB1_ENST00000409641.1_Missense_Mutation_p.P329A	p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		6	1446	+			329			Necessary for nuclear localization (By similarity).		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.985C>G	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025907|4.025907	0.75390|0.75390	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490|ENST00000434473	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Nab1, C-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58466|0.58466	0.2124|0.2124	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.996;0.973;0.998|.	D;P;D|.	0.73708|.	0.981;0.898;0.965|.	T|T	0.52275|0.52275	-0.8597|-0.8597	9|6	0.54805|.	T|.	0.06|.	-12.2731|-12.2731	17.8248|17.8248	0.88661|0.88661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	329;329;329|.	F8W8J7;B8ZZS2;Q13506|.	.;.;NAB1_HUMAN|.	A|R	329;329;329;329;99|111	.|.	ENSP00000336894:P329A|.	P|P	+|+	1|2	0|0	NAB1|NAB1	191246103|191246103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.592000|6.592000	0.74095|0.74095	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	CCA|CCC		0.318	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		10	22	0	0	0	1	0	10	22					G	191537858	C	G	191537858	3	3	328	1	0	0	0	0	1	0	0	0	10131	623	22	4	995	4	NAB1	2	191537858	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	1664091	191537858	51661515	9	32511											
TRANK1	9881	broad.mit.edu	37	chr3	36875111	36875111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcagacatgaggccTggaagtccttgtcggcagtg	13	13	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:36875111T>C	ENST00000429976.2	-	21	6078	c.5831A>G	c.(5830-5832)cAg>cGg	p.Q1944R	TRANK1_ENST00000301807.6_Missense_Mutation_p.Q1394R|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1944							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATGAGGCCTGGAAGTCCTT	0.572																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4180-4182)cAg>cGg		tetratricopeptide repeat and ankyrin repeat containing 1							36	37	37					3																	36875111		1958	4144	6102	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875111T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5831A>G	3.37:g.36875111T>C	ENSP00000416168:p.Gln1944Arg					TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R|TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1944R	p.Q1394R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	6078	-			1944					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4181A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	6.871	0.530149	0.13127	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29397	1.57;1.98;1.57	5.29	4.13	0.48395	.	0.256954	0.27323	N	0.019900	T	0.12518	0.0304	N	0.12746	0.255	0.29926	N	0.82232	B	0.09022	0.002	B	0.06405	0.002	T	0.27640	-1.0068	10	0.02654	T	1	.	6.6558	0.22986	0.0:0.2219:0.0:0.7781	.	1944	O15050	TRNK1_HUMAN	R	1394;1944;1394	ENSP00000416826:Q1394R;ENSP00000416168:Q1944R;ENSP00000301807:Q1394R	ENSP00000301807:Q1394R	Q	-	2	0	TRANK1	36850115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.145000	0.42207	2.140000	0.66376	0.459000	0.35465	CAG		0.572	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		12	22	0	0	0	1	0	12	22					C	36875111	T	C	36875111	3	2	328	1	0	0	0	0	1	0	0	0	16451	1580	55	3	2958	3	TRANK1	3	36875111	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08		36875111	161147319	10	32512											
KCNMB2	10242	broad.mit.edu	37	chr3	178543531	178543531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggaatcacactcctgcGctcatacatgcagaggtaat	10	11	2	1	rs553808917		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:178543531G>A	ENST00000432997.1	+	3	564	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	82					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	ACACTCCTGCGCTCATACATG	0.532																																						ENST00000432997.1																			0				NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(211-213)cGc>cAc		potassium large conductance calcium-activated channel, subfamily M, beta member 2							192	179	183					3																	178543531		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178543531G>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"Potassium channels"	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.212G>A	3.37:g.178543531G>A	ENSP00000407592:p.Arg71His					KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	p.R71H	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		3	564	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		71					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.212G>A	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261180	0.80246	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000455865;ENST00000358316;ENST00000457763	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.40543	1.245	0.80722	D	1	P	0.47677	0.899	P	0.47015	0.534	T	0.00494	-1.1706	10	0.48119	T	0.1	-11.7687	19.1488	0.93479	0.0:0.0:1.0:0.0	.	71	Q9Y691	KCMB2_HUMAN	H	71;71;71;71;71;71;52	ENSP00000395807:R71H;ENSP00000408252:R71H;ENSP00000397483:R71H;ENSP00000407592:R71H;ENSP00000399100:R71H;ENSP00000351068:R71H	ENSP00000351068:R71H	R	+	2	0	KCNMB2	180026225	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.529000	0.81952	2.538000	0.85594	0.655000	0.94253	CGC		0.532	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		74	120	0	0	0	1	0	74	120					A	178543531	G	A	178543531	3	1	328	1	0	0	0	0	1	0	0	0	8075	1087	38	1	218	1	KCNMB2	3	178543531	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	141668420	178543531	19478899	11	32513											
SLIT2	9353	broad.mit.edu	37	chr4	20525656	20525659	+	Frame_Shift_Del	DEL	TTTA	TTTA	-													ggcatttggcccagaaccccTttatttgtgactgccatctc							TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:20525656_20525659delTTTA	ENST00000504154.1	+	14	1546_1549	c.1294_1297delTTTA	c.(1294-1299)tttattfs	p.FI432fs	SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	432	LRRCT 2.				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						CCAGAACCCCTTTATTTGTGACTG	0.485																																						ENST00000504154.1																			0				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						c.(1294-1299)ttfs		slit homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525656_20525659delTTTA	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.1294_1297delTTTA	4.37:g.20525656_20525659delTTTA	ENSP00000422591:p.Phe432fs					SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs	p.FI432fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1546_1549	+			432			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Frame_Shift_Del	DEL	ENST00000504154.1	37	c.1294_1297delTTTA	CCDS3426.1																																																																																				0.485	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			59	111						59	111	---	---	---	---	-	20525659	TTTA	-	20525656	7	5	328	1	0	1	0	1	0	0	0	0	14740	1609	56	0	1348	0	SLIT2	4	20525656	Frame_Shift_Del	DEL	TTTA	TCGA-HT-A61C-01A-11D-A29Q-08		20525656	170628620	12	32514											
RFC1	5981	broad.mit.edu	37	chr4	39325012	39325014	+	In_Frame_Del	DEL	TCA	TCA	-													ctaatgttctggcaaactctTcatcttcatgcaactgcctc							TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:39325012_39325014delTCA	ENST00000381897.1	-	7	799_801	c.666_668delTGA	c.(664-669)gatgaa>gaa	p.D222del	RFC1_ENST00000349703.2_In_Frame_Del_p.D222del|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	222					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						GGCAAACTCTTCATCTTCATGCA	0.379																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(664-669)gaa>ga		replication factor C (activator 1) 1, 145kDa																																				SO:0001651	inframe_deletion	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39325012_39325014delTCA	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.666_668delTGA	4.37:g.39325012_39325014delTCA	ENSP00000371321:p.Asp222del					RFC1_ENST00000349703.2_In_Frame_Del_p.DE222del|RFC1_ENST00000418436.1_5'UTR	p.DE222del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			7	799_801	-			222					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	In_Frame_Del	DEL	ENST00000381897.1	37	c.666_668delTGA	CCDS56329.1																																																																																				0.379	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		16	36						16	36	---	---	---	---	-	39325014	TCA	-	39325012	7	5	328	1	0	1	0	1	0	0	0	0	13244	1783	62	0	2851	0	RFC1	4	39325012	In_Frame_Del	DEL	TCA	TCGA-HT-A61C-01A-11D-A29Q-08	18799356	39325012	151829264	13	32515											
UGT2B11	10720	broad.mit.edu	37	chr4	70070287	70070287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaacaatggaatgcccaCcatagggatcccatggtaga	9	9	0	1	rs113129893		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:70070287C>A	ENST00000446444.1	-	5	1179	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	391					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATGCCCACCATAGGGATC	0.428													.|||	0	0.0	0.0	0.0	5008	,	,		17908	0.0		0.0	False		,,,				2504	0.0					ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1171-1173)Gtg>Ttg		UDP glucuronosyltransferase 2 family, polypeptide B11							126	125	125					4																	70070287		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070287C>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1171G>T	4.37:g.70070287C>A	ENSP00000387683:p.Val391Leu					RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.V391L	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1179	-			391					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1171G>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	11.02	1.516352	0.27123	.	.	ENSG00000213759	ENST00000446444	T	0.63417	-0.04	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000009	T	0.71108	0.3301	M	0.69523	2.12	0.22858	N	0.998649	D	0.65815	0.995	P	0.61003	0.882	T	0.61173	-0.7116	10	0.62326	D	0.03	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	391	O75310	UDB11_HUMAN	L	391	ENSP00000387683:V391L	ENSP00000387683:V391L	V	-	1	0	UGT2B11	70104876	0.999000	0.42202	0.893000	0.35052	0.061000	0.15899	0.647000	0.24812	1.087000	0.41251	0.184000	0.17185	GTG		0.428	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		13	136	1	0	6.72482e-11	1	7.18074e-11	13	136					A	70070287	C	A	70070287	3	1	328	1	0	0	0	0	1	0	0	0	16954	507	18	4	426	4	UGT2B11	4	70070287	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30745275	70070287	121083989	14	32516											
PROL1	58503	broad.mit.edu	37	chr4	71275670	71275670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatactactcaaattctcGccaaccgtcctcacacagta	3	14	3	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:71275670G>A	ENST00000399575.2	+	3	799	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	209	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCAAATTCTCGCCAACCGTCC	0.463																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(625-627)Gcc>Acc		proline rich, lacrimal 1							118	123	122					4																	71275670		2029	4187	6216	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275670G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.625G>A	4.37:g.71275670G>A	ENSP00000382485:p.Ala209Thr						p.A209T	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	799	+		all_hematologic(202;0.196)	209			Thr-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.625G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	A	6.485	0.457755	0.12342	.	.	ENSG00000171199	ENST00000399575	T	0.26810	1.71	2.48	-3.48	0.04739	.	.	.	.	.	T	0.06554	0.0168	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	9	0.02654	T	1	.	4.8818	0.13683	0.2487:0.363:0.3883:0.0	.	209	Q99935	PROL1_HUMAN	T	209	ENSP00000382485:A209T	ENSP00000382485:A209T	A	+	1	0	PROL1	71310259	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.577000	0.05847	-1.329000	0.02258	-1.411000	0.01122	GCC		0.463	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		39	87	0	0	0	1	0	39	87					A	71275670	G	A	71275670	3	1	328	1	0	0	0	0	1	0	0	0	12554	1087	38	1	631	1	PROL1	4	71275670	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	1205383	71275670	119878606	15	32517											
PARM1	25849	broad.mit.edu	37	chr4	75938016	75938016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctacactgtcgcagtccgCtgctgagcctcccacactca	8	17	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:75938016C>A	ENST00000307428.7	+	2	637	c.425C>A	c.(424-426)gCt>gAt	p.A142D	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	142					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCGCAGTCCGCTGCTGAGCCT	0.572																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(424-426)gCt>gAt		prostate androgen-regulated mucin-like protein 1							148	163	158					4																	75938016		2142	4243	6385	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938016C>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.425C>A	4.37:g.75938016C>A	ENSP00000370224:p.Ala142Asp					PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.A142D	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	637	+			142					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.425C>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	C	4.492	0.091230	0.08632	.	.	ENSG00000169116	ENST00000307428	T	0.70986	-0.53	4.24	3.39	0.38822	.	0.868329	0.09866	N	0.745566	T	0.47581	0.1453	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.21546	0.035	T	0.30736	-0.9968	10	0.17832	T	0.49	-0.1572	8.3298	0.32180	0.0:0.8864:0.0:0.1136	.	142	Q6UWI2	PARM1_HUMAN	D	142	ENSP00000370224:A142D	ENSP00000370224:A142D	A	+	2	0	PARM1	76157040	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.815000	0.27253	0.898000	0.36418	0.563000	0.77884	GCT		0.572	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		22	245	1	0	4.35082e-09	1	4.56836e-09	22	245					A	75938016	C	A	75938016	3	1	328	1	0	0	0	0	1	0	0	0	11452	797	28	4	431	4	PARM1	4	75938016	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	4662346	75938016	115216260	16	32518											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006209	118006209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttaaacttgttttgtttcGctttggtgaactgcattctc	8	8	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:118006209G>A	ENST00000310754.4	-	1	527	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	114					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A114E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTGTTTCGCTTTGGTGAA	0.373																																						ENST00000310754.4																			1	Substitution - Missense(1)	p.A114E(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(340-342)gCg>gTg		translocation associated membrane protein 1-like 1							91	81	84					4																	118006209		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006209G>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.341C>T	4.37:g.118006209G>A	ENSP00000309402:p.Ala114Val						p.A114V	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	527	-			114					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.341C>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068127	0.07228	.	.	ENSG00000174599	ENST00000310754	T	0.40476	1.03	4.29	1.51	0.23008	TRAM1-like protein (1);	0.336824	0.34484	N	0.003930	T	0.12774	0.0310	N	0.03983	-0.305	0.09310	N	1	B	0.25351	0.124	B	0.15484	0.013	T	0.27640	-1.0068	10	0.06099	T	0.92	-18.2747	4.2726	0.10794	0.0922:0.1622:0.5897:0.1559	.	114	Q8N609	TR1L1_HUMAN	V	114	ENSP00000309402:A114V	ENSP00000309402:A114V	A	-	2	0	TRAM1L1	118225657	0.997000	0.39634	0.000000	0.03702	0.593000	0.36681	3.765000	0.55272	0.292000	0.22492	0.655000	0.94253	GCG		0.373	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		12	31	0	0	0	1	0	12	31					A	118006209	G	A	118006209	3	1	328	1	0	0	0	0	1	0	0	0	16449	1087	38	1	772	1	TRAM1L1	4	118006209	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	42068193	118006209	73148067	17	32519											
TMEM184C	55751	broad.mit.edu	37	chr4	148555479	148555479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaagggtttggacacaCtgtgactccccagactacac	8	14	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:148555479C>T	ENST00000296582.3	+	10	1785	c.1211C>T	c.(1210-1212)aCt>aTt	p.T404I	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	404						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTGGACACACTGTGACTCCC	0.408																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1210-1212)aCt>aTt		transmembrane protein 184C							106	99	101					4																	148555479		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148555479C>T	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.1211C>T	4.37:g.148555479C>T	ENSP00000296582:p.Thr404Ile					TMEM184C_ENST00000508208.1_Intron	p.T404I	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1785	+			404					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.1211C>T	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148843	0.94603	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.52	5.52	0.82312	.	0.098166	0.64402	D	0.000001	T	0.79896	0.4525	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.78682	-0.2109	9	0.45353	T	0.12	-24.8687	19.8125	0.96553	0.0:1.0:0.0:0.0	.	404	Q9NVA4	T184C_HUMAN	I	404	.	ENSP00000296582:T404I	T	+	2	0	TMEM184C	148774929	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.106000	0.64597	2.745000	0.94114	0.655000	0.94253	ACT		0.408	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		29	47	0	0	0	1	0	29	47					T	148555479	C	T	148555479	3	4	328	1	0	0	0	0	1	0	0	0	16103	565	20	2	1249	2	TMEM184C	4	148555479	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30549270	148555479	42598797	18	32520											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070795	129070795	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaaataccataacatcaccCagactgggtaagcagacaaa	7	10	1	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:129070795C>G	ENST00000274487.4	+	22	3610	c.3465C>G	c.(3463-3465)ccC>ccG	p.P1155P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1155						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)		TAACATCACCCAGACTGGGTA	0.338																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3463-3465)ccC>ccG		ADAM metallopeptidase with thrombospondin type 1 motif, 19							76	80	78					5																	129070795		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129070795C>G	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.3465C>G	5.37:g.129070795C>G						CTC-575N7.1_ENST00000503616.1_RNA	p.P1155P	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	22	3610	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1155						Silent	SNP	ENST00000274487.4	37	c.3465C>G	CCDS4146.1																																																																																				0.338	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		21	44	0	0	0	1	0	21	44					G	129070795	C	G	129070795	2	3	328	1	0	0	0	0	0	0	0	1	264	581	21	4		4	ADAMTS19	5	129070795	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		129070795	51844465	19	32521											
ANXA6	309	broad.mit.edu	37	chr5	150488109	150488109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttgatgaactcctggaAgactggccacaagagaagcc	10	11	1	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:150488109A>G	ENST00000354546.5	-	23	1914	c.1687T>C	c.(1687-1689)Ttc>Ctc	p.F563L	ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	563					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCCTGGAAGACTGGCCAC	0.582																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1687-1689)Ttc>Ctc		annexin A6							136	136	136					5																	150488109		1966	4155	6121	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488109A>G	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"Annexins"	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1687T>C	5.37:g.150488109A>G	ENSP00000346550:p.Phe563Leu					ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L	p.F563L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1914	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	563					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1687T>C	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	A	32	5.187502	0.94923	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87	5.57	5.57	0.84162	Annexin repeat, conserved site (1);	0.113654	0.64402	D	0.000010	T	0.17619	0.0423	M	0.80746	2.51	0.80722	D	1	D;D;D	0.63880	0.993;0.966;0.986	P;P;P	0.62649	0.905;0.687;0.804	T	0.00184	-1.1944	10	0.72032	D	0.01	.	14.7245	0.69332	1.0:0.0:0.0:0.0	.	350;557;563	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	L	563;531;220;557;350;437	ENSP00000346550:F563L;ENSP00000430517:F531L;ENSP00000366980:F220L;ENSP00000348889:F557L;ENSP00000430420:F350L	ENSP00000346550:F563L	F	-	1	0	ANXA6	150468302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.661000	0.83786	2.126000	0.65437	0.533000	0.62120	TTC		0.582	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		64	105	0	0	0	1	0	64	105					G	150488109	A	G	150488109	3	3	328	1	0	0	0	0	1	0	0	0	722	72	3	3	350	3	ANXA6	5	150488109	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	21417314	150488109	30427151	20	32522											
EGFR	1956	broad.mit.edu	37	chr7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaagccacgtgcaaggacAcctgccccccactcatgctc	8	18	1	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.T263P(4)		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)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		4	Substitution - Missense(4)	p.T263P(4)	central_nervous_system(4)	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						c.(787-789)Acc>Ccc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						220	172	188					7																	55221743		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221743A>C		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.787A>C	7.37:g.55221743A>C	ENSP00000275493:p.Thr263Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P	p.T263P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		7	964	+	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)		263					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.787A>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866807	0.51588	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.244508	0.45361	D	0.000372	D	0.86619	0.5976	M	0.68593	2.085	0.39155	D	0.962303	P;P;P;P;P	0.52061	0.642;0.483;0.95;0.894;0.794	B;B;P;P;P	0.51079	0.433;0.286;0.658;0.56;0.487	D	0.87155	0.2211	10	0.42905	T	0.14	.	9.6762	0.40043	0.9225:0.0:0.0775:0.0	.	218;263;263;263;263	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	218;263;133;263;263;263;263;210;57	ENSP00000415559:T218P;ENSP00000342376:T263P;ENSP00000345973:T263P;ENSP00000413843:T263P;ENSP00000275493:T263P;ENSP00000410031:T263P;ENSP00000395243:T210P	ENSP00000275493:T263P	T	+	1	0	EGFR	55189237	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	2.639000	0.46570	2.272000	0.75746	0.460000	0.39030	ACC		0.577	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	119	0	0	0	1	0	38	119					C	55221743	A	C	55221743	3	2	328	1	0	0	0	0	1	0	0	0	4967	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		55221743	103916920	21	32523											
MET	4233	broad.mit.edu	37	chr7	116395440	116395440	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagtgcaccccttgaaggagGgacaaggctgaccatatgtg	13	9	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116395440G>C	ENST00000318493.6	+	6	1920	c.1733G>C	c.(1732-1734)gGg>gCg	p.G578A	MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.G578A			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTGAAGGAGGGACAAGGCTG	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1732-1734)gGg>gCg		met proto-oncogene							89	84	85					7																	116395440		1808	4081	5889	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116395440G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1733G>C	7.37:g.116395440G>C	ENSP00000317272:p.Gly578Ala					MET_ENST00000318493.6_Missense_Mutation_p.G578A|MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000495962.1_3'UTR	p.G578A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		6	1933	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	578			IPT/TIG 1.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1733G>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302922	0.60195	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	D;D;D	0.86497	-2.13;-2.13;-2.13	5.93	5.93	0.95920	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.210069	0.51477	D	0.000081	D	0.93884	0.8043	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;P;D	0.71674	0.998;0.971;0.995;0.989;0.99;0.995;0.798;0.997	P;P;P;D;P;D;P;D	0.64042	0.905;0.877;0.897;0.92;0.897;0.92;0.539;0.921	D	0.94289	0.7527	10	0.66056	D	0.02	-13.8616	15.9036	0.79403	0.0:0.0:0.8643:0.1357	.	578;578;578;578;550;578;578;578	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	A	578	ENSP00000380860:G578A;ENSP00000317272:G578A;ENSP00000410980:G578A	ENSP00000317272:G578A	G	+	2	0	MET	116182676	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	5.062000	0.64326	2.826000	0.97356	0.655000	0.94253	GGG		0.368	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			434	995	0	0	0	1	0	434	995					C	116395440	G	C	116395440	3	2	328	1	0	0	0	0	1	0	0	0	9485	1232	43	4	1751	4	MET	7	116395440	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	61173697	116395440	42743223	22	32524											
MET	4233	broad.mit.edu	37	chr7	116412045	116412045	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgagctacttttccagaaggTatatttcagtttattgttct	7	7	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116412045T>A	ENST00000318493.6	+	14	3269		c.e14+2		MET_ENST00000397752.3_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						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)	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		4	Unknown(4)	p.?(3)|p.982_1028del47(1)	lung(3)|central_nervous_system(1)	NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.e14+2		met proto-oncogene							61	57	58					7																	116412045		1828	4071	5899	SO:0001630	splice_region_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116412045T>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3082+2T>A	7.37:g.116412045T>A						MET_ENST00000318493.6_Splice_Site		NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		14	3228	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37		CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629052	0.67015	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1924	0.82000	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116199281	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.509000	0.81698	2.287000	0.76781	0.482000	0.46254	.		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	29	847	0	0	0	1	0	29	847					A	116412045	T	A	116412045	5	1	328	1	0	0	0	0	0	0	1	0	9485	1652	57	5	3134	5	MET	7	116412045	Splice_Site	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16605	116412045	42726618	23	32525											
KCND2	3751	broad.mit.edu	37	chr7	120381623	120381623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggatccgggcagccaaaagCggaagcgcaaatgcttacat	12	10	0	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:120381623C>G	ENST00000331113.4	+	3	2279	c.1314C>G	c.(1312-1314)agC>agG	p.S438R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	438					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGCCAAAAGCGGAAGCGCAA	0.373																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1312-1314)agC>agG		potassium voltage-gated channel, Shal-related subfamily, member 2							85	92	90					7																	120381623		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120381623C>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1314C>G	7.37:g.120381623C>G	ENSP00000333496:p.Ser438Arg						p.S438R	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			3	2279	+	all_neural(327;0.117)		438					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1314C>G	CCDS5776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.32|18.32	3.597729|3.597729	0.66332|0.66332	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000425288|ENST00000331113	.|D	.|0.96802	.|-4.13	5.62|5.62	-2.11|-2.11	0.07187|0.07187	.|.	.|0.052641	.|0.64402	.|D	.|0.000001	D|D	0.92348|0.92348	0.7572|0.7572	L|L	0.46157|0.46157	1.445|1.445	0.31753|0.31753	N|N	0.634326|0.634326	.|P	.|0.38370	.|0.628	.|B	.|0.37144	.|0.242	D|D	0.87476|0.87476	0.2417|0.2417	5|9	.|.	.|.	.|.	.|.	12.5967|12.5967	0.56474|0.56474	0.0:0.384:0.0:0.616|0.0:0.384:0.0:0.616	.|.	.|438	.|Q9NZV8	.|KCND2_HUMAN	G|R	24|438	.|ENSP00000333496:S438R	.|.	A|S	+|+	2|3	0|2	KCND2|KCND2	120168859|120168859	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.979000|0.979000	0.70002|0.70002	-2.264000|-2.264000	0.01173|0.01173	-0.647000|-0.647000	0.05444|0.05444	-0.295000|-0.295000	0.09555|0.09555	GCG|AGC		0.373	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		14	52	0	0	0	1	0	14	52					G	120381623	C	G	120381623	3	3	328	1	0	0	0	0	1	0	0	0	8019	767	27	4	1324	4	KCND2	7	120381623	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	3969578	120381623	38757040	24	32526											
FSCN3	29999	broad.mit.edu	37	chr7	127240253	127240253	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccttctccagcacagGggggatccttctggtcaata	9	13	4	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:127240253G>C	ENST00000265825.5	+	6	1516	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	FSCN3_ENST00000420086.2_Splice_Site_p.G297A	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	433						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGCACAGGGGGGATCCTT	0.572																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1297-1299)Ggg>Cgg		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							52	49	50					7																	127240253		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240253G>C		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1297G>C	7.37:g.127240253G>C	ENSP00000265825:p.Gly433Arg					FSCN3_ENST00000420086.2_Splice_Site_p.G297_splice	p.G433R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			6	1516	+			433					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1297G>C	CCDS34746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.666|9.666	1.145305|1.145305	0.21288|0.21288	.|.	.|.	ENSG00000106328|ENSG00000106328	ENST00000420086|ENST00000265825	T|T	0.40225|0.43294	1.04|0.95	5.74|5.74	1.94|1.94	0.25998|0.25998	.|Actin cross-linking (1);	0.403237|0.403237	0.24309|0.24309	N|N	0.039656|0.039656	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.34521|0.34521	1.04|1.04	0.32618|0.32618	N|N	0.523711|0.523711	P|P	0.48294|0.46706	0.908|0.883	B|B	0.41860|0.42555	0.368|0.391	T|T	0.37798|0.37798	-0.9690|-0.9690	10|10	0.37606|0.38643	T|T	0.19|0.18	-23.3894|-23.3894	8.4096|8.4096	0.32636|0.32636	0.2956:0.0:0.7044:0.0|0.2956:0.0:0.7044:0.0	.|.	297|433	B4DU68|Q9NQT6	.|FSCN3_HUMAN	A|R	297|433	ENSP00000412243:G297A|ENSP00000265825:G433R	ENSP00000412243:G297A|ENSP00000265825:G433R	G|G	+|+	2|1	0|0	FSCN3|FSCN3	127027489|127027489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.733000|0.733000	0.26087|0.26087	0.361000|0.361000	0.24292|0.24292	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.572	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		18	70	0	0	0	1	0	18	70					C	127240253	G	C	127240253	3	2	328	1	0	0	0	0	1	0	0	0	6069	1232	43	4	1319	4	FSCN3	7	127240253	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	6858630	127240253	31898410	25	32527											
GFRA2	2675	broad.mit.edu	37	chr8	21608324	21608324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttgcagcgctcggtgggCgagatctcgcggttgcagat	17	10	1	2	rs536103646		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:21608324C>T	ENST00000524240.1	-	4	1220	c.570G>A	c.(568-570)tcG>tcA	p.S190S	GFRA2_ENST00000400782.4_Silent_p.S85S|GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000518077.1_Silent_p.S57S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	190					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTCGGTGGGCGAGATCTCGC	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0					ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(568-570)tcG>tcA		GDNF family receptor alpha 2							48	58	55					8																	21608324		2193	4296	6489	SO:0001819	synonymous_variant	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608324C>T	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.570G>A	8.37:g.21608324C>T						GFRA2_ENST00000518077.1_Silent_p.S57S|GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000400782.4_Silent_p.S85S	p.S190S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	4	1220	-			190					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	c.570G>A	CCDS47816.1																																																																																				0.607	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		36	52	0	0	0	1	0	36	52					T	21608324	C	T	21608324	2	4	328	1	0	0	0	0	0	0	0	1	6348	755	27	1		1	GFRA2	8	21608324	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21608324	124755698	26	32528											
ASPH	444	broad.mit.edu	37	chr8	62556552	62556552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccatatcctgattacagtCttgtgaaactataaattatg	5	7	1	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:62556552C>A	ENST00000379454.4	-	8	848	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000523897.1_5'Flank|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y|ASPH_ENST00000541428.1_Missense_Mutation_p.D192Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	221	Glu-rich.				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)	TGATTACAGTCTTGTGAAACT	0.318																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(574-576)Gac>Tac		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						65	64	65					8																	62556552		2202	4298	6500	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62556552C>A	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.661G>T	8.37:g.62556552C>A	ENSP00000368767:p.Asp221Tyr					ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y|ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000379454.4_Missense_Mutation_p.D221Y	p.D192Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			8	734	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	221			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.574G>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399040	0.25291	.	.	ENSG00000198363	ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.22	3.4	0.38934	Aspartyl beta-hydroxylase/Triadin domain (1);	0.914080	0.09435	N	0.802524	T	0.57066	0.2028	L	0.27053	0.805	0.19300	N	0.999976	D;D;D;D;D;D;D	0.76494	0.999;0.984;0.963;0.98;0.965;0.993;0.983	D;D;P;P;P;D;P	0.67103	0.949;0.914;0.735;0.873;0.799;0.914;0.827	T	0.43877	-0.9364	10	0.66056	D	0.02	-3.291	7.6435	0.28307	0.0:0.801:0.0:0.199	.	164;207;192;178;221;207;221	B4DIC9;B7ZM95;F5H667;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;ASPH_HUMAN	Y	192;221;34;221;236;178;207;207;207;164	ENSP00000437864:D192Y;ENSP00000368767:D221Y;ENSP00000430516:D34Y;ENSP00000348841:D221Y;ENSP00000427823:D236Y;ENSP00000429286:D178Y;ENSP00000430245:D207Y;ENSP00000394013:D207Y;ENSP00000429954:D207Y;ENSP00000429160:D164Y	ENSP00000348841:D221Y	D	-	1	0	ASPH	62719106	0.012000	0.17670	0.157000	0.22605	0.074000	0.17049	1.187000	0.32090	0.680000	0.31366	0.655000	0.94253	GAC		0.318	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		5	14	1	0	0.014758	1	0.014996	5	14					A	62556552	C	A	62556552	3	1	328	1	0	0	0	0	1	0	0	0	1053	913	32	4	1699	4	ASPH	8	62556552	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	40948228	62556552	83807470	27	32529											
TMEM67	91147	broad.mit.edu	37	chr8	94828614	94828614	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccagatttttagatatatCcgtaatacagtaggacaaaa	6	6	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(2920-2922)atC>atT		transmembrane protein 67							42	49	47					8																	94828614		2193	4269	6462	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94828614C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2922C>T	8.37:g.94828614C>T						TMEM67_ENST00000409623.3_Silent_p.I893I	p.I974I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		28	2980	+	Breast(36;4.14e-07)		974					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.2922C>T	CCDS6258.2																																																																																				0.259	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		8	23	0	0	0	1	0	8	23					T	94828614	C	T	94828614	2	4	328	1	0	0	0	0	0	0	0	1	16193	845	30	2		2	TMEM67	8	94828614	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	32272062	94828614	51535408	28	32530											
COL27A1	85301	broad.mit.edu	37	chr9	117005792	117005792	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctgttgcagggtcaGcctggcaggaaggggtttcc	15	10	3	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:117005792G>C	ENST00000356083.3	+	23	3277	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	962	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGTCAGCCTGGCAGGA	0.627																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2884-2886)caG>caC		collagen, type XXVII, alpha 1							40	42	41					9																	117005792		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117005792G>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2886G>C	9.37:g.117005792G>C	ENSP00000348385:p.Gln962His						p.Q962H	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			23	3277	+			962			Collagen-like 6.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2886G>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648267	0.47258	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93189	-3.18	5.66	-3.55	0.04639	.	.	.	.	.	D	0.86887	0.6041	L	0.39085	1.19	0.23827	N	0.996733	B	0.06786	0.001	B	0.12837	0.008	T	0.74768	-0.3553	9	0.46703	T	0.11	.	7.0219	0.24918	0.46:0.1235:0.4165:0.0	.	962	Q8IZC6	CORA1_HUMAN	H	962	ENSP00000348385:Q962H	ENSP00000348385:Q962H	Q	+	3	2	COL27A1	116045613	0.966000	0.33281	0.883000	0.34634	0.996000	0.88848	-0.002000	0.12924	-0.267000	0.09325	0.650000	0.86243	CAG		0.627	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		15	22	0	0	0	1	0	15	22					C	117005792	G	C	117005792	3	2	328	1	0	0	0	0	1	0	0	0	3685	962	34	4	2976	4	COL27A1	9	117005792	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		117005792	24207639	29	32531											
TRAF2	7186	broad.mit.edu	37	chr9	139815579	139815579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatggaggcatccacctaCgatggggtcttcatctggaa	13	9	3	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:139815579C>T	ENST00000247668.2	+	9	1102	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y	TRAF2_ENST00000359662.3_Silent_p.Y402Y|TRAF2_ENST00000536468.1_Silent_p.Y350Y	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	350				LEMEASTYDGVFIWKISDFARKR -> RPFQAQCGHRYCSF CLASILRKL (in Ref. 1; AAA87706). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|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(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CATCCACCTACGATGGGGTCT	0.602																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1204-1206)taC>taT		TNF receptor-associated factor 2							89	71	77					9																	139815579		2203	4300	6503	SO:0001819	synonymous_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139815579C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1050C>T	9.37:g.139815579C>T						TRAF2_ENST00000247668.2_Silent_p.Y350Y|TRAF2_ENST00000536468.1_Silent_p.Y350Y	p.Y402Y			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1251	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	350			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	c.1206C>T	CCDS7013.1																																																																																				0.602	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		38	44	0	0	0	1	0	38	44					T	139815579	C	T	139815579	2	4	328	1	0	0	0	0	0	0	0	1	16435	547	19	1		1	TRAF2	9	139815579	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	22809787	139815579	1397852	30	32532											
OR56A4	120793	broad.mit.edu	37	chr11	6023641	6023641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagctgattgaaagtgatGtcatcacaagagagtttgga	12	4	2	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:6023641G>A	ENST00000330728.4	-	1	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	194						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)		TGAAAGTGATGTCATCACAAG	0.428																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(736-738)gaC>gaT		olfactory receptor, family 56, subfamily A, member 4							51	50	51					11																	6023641		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023641G>A	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.738C>T	11.37:g.6023641G>A							p.D246D	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	783	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	194					B9EH17	Silent	SNP	ENST00000330728.4	37	c.738C>T	CCDS31404.1																																																																																				0.428	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		17	25	0	0	0	1	0	17	25					A	6023641	G	A	6023641	2	1	328	1	0	0	0	0	0	0	0	1	11135	1368	48	2		2	OR56A4	11	6023641	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		6023641	128982875	31	32533											
LDHA	3939	broad.mit.edu	37	chr11	18424533	18424533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattaagctgtcatgggtggGtccttggggaacatggagat	15	6	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:18424533G>T	ENST00000422447.3	+	5	838	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000396222.2_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	189					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TCATGGGTGGGTCCTTGGGGA	0.408																																						ENST00000422447.3																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(565-567)Gtc>Ttc		lactate dehydrogenase A	NADH(DB00157)						53	53	53					11																	18424533		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18424533G>T	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.565G>T	11.37:g.18424533G>T	ENSP00000395337:p.Val189Phe					LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F|LDHA_ENST00000396222.2_Missense_Mutation_p.V189F	p.V189F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN			5	838	+			189					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.565G>T	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926376	0.73327	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.34	-2.22	0.06952	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.495500	0.21768	N	0.069419	D	0.87962	0.6310	H	0.96943	3.91	0.52501	D	0.999958	D;P;P;D;D	0.55605	0.972;0.788;0.734;0.964;0.971	D;P;P;P;P	0.64410	0.925;0.742;0.641;0.766;0.884	D	0.89026	0.3438	10	0.87932	D	0	-5.8587	12.1067	0.53816	0.7662:0.0:0.2338:0.0	.	218;131;162;189;189	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	F	189;131;189;161;162;189;218;189;189	ENSP00000395337:V189F;ENSP00000406172:V131F;ENSP00000379524:V189F;ENSP00000227157:V189F;ENSP00000445175:V218F;ENSP00000368722:V189F;ENSP00000445331:V189F	ENSP00000227157:V189F	V	+	1	0	LDHA	18381109	0.996000	0.38824	0.987000	0.45799	0.996000	0.88848	0.486000	0.22340	-0.256000	0.09473	0.650000	0.86243	GTC		0.408	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	76	1	0	0.000602214	1	0.000621959	4	76					T	18424533	G	T	18424533	3	4	328	1	0	0	0	0	1	0	0	0	8698	1261	44	4	670	4	LDHA	11	18424533	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	12400892	18424533	116581983	32	32534											
OR8K1	390157	broad.mit.edu	37	chr11	56113534	56113534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatcatgtggtaaaacAcaatcacacggcagtgacca	9	9	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:56113534A>T	ENST00000279783.2	+	1	114	c.20A>T	c.(19-21)cAc>cTc	p.H7L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGGTAAAACACAATCACACG	0.363										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(19-21)cAc>cTc		olfactory receptor, family 8, subfamily K, member 1							78	74	76					11																	56113534		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113534A>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.20A>T	11.37:g.56113534A>T	ENSP00000279783:p.His7Leu	HNSCC(65;0.19)					p.H7L	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	114	+	Esophageal squamous(21;0.00448)		7					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.20A>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961790	0.34659	.	.	ENSG00000150261	ENST00000279783	T	0.02763	4.17	5.19	-9.43	0.00607	.	2.863970	0.00834	N	0.001685	T	0.01124	0.0037	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46952	-0.9154	10	0.09843	T	0.71	4.6347	1.4678	0.02409	0.5091:0.1734:0.0966:0.2209	.	7	Q8NGG5	OR8K1_HUMAN	L	7	ENSP00000279783:H7L	ENSP00000279783:H7L	H	+	2	0	OR8K1	55870110	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.096000	0.03353	-1.887000	0.01115	-0.487000	0.04747	CAC		0.363	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		16	33	0	0	0	1	0	16	33					T	56113534	A	T	56113534	3	4	328	1	0	0	0	0	1	0	0	0	11243	159	6	5	22	5	OR8K1	11	56113534	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	37689001	56113534	78892982	33	32535											
PGM2L1	283209	broad.mit.edu	37	chr11	74085469	74085469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatacttacctgtgttgaCtgtattactgtaaggtcatt	7	6	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:74085469C>T	ENST00000298198.4	-	2	581	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	90					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)					CCTGTGTTGACTGTATTACTG	0.463																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(268-270)caG>caA		phosphoglucomutase 2-like 1							91	85	87					11																	74085469		2200	4293	6493	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74085469C>T	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.270G>A	11.37:g.74085469C>T							p.Q90Q	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			2	581	-	Breast(11;3.32e-06)		90					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.270G>A	CCDS8231.1																																																																																				0.463	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		11	19	0	0	0	1	0	11	19					T	74085469	C	T	74085469	2	4	328	1	0	0	0	0	0	0	0	1	11799	564	20	2		2	PGM2L1	11	74085469	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	17971935	74085469	60921047	34	32536											
CAPZA3	93661	broad.mit.edu	37	chr12	18891867	18891867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaaccaagctcaactggCtctaagttttgcaaggcttg	9	9	2	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:18891867C>T	ENST00000317658.3	+	1	823	c.665C>T	c.(664-666)gCt>gTt	p.A222V	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	222					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTCAACTGGCTCTAAGTTTT	0.393																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(664-666)gCt>gTt		capping protein (actin filament) muscle Z-line, alpha 3							60	62	61					12																	18891867		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891867C>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.665C>T	12.37:g.18891867C>T	ENSP00000326238:p.Ala222Val						p.A222V	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	823	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	222					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.665C>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557170	0.45590	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.225715	0.36374	N	0.002639	T	0.51736	0.1692	M	0.64404	1.975	0.47308	D	0.999384	B	0.30179	0.271	B	0.28991	0.097	T	0.54370	-0.8304	9	0.46703	T	0.11	-23.8606	8.9194	0.35601	0.0:0.9007:0.0:0.0993	.	222	Q96KX2	CAZA3_HUMAN	V	222	.	ENSP00000326238:A222V	A	+	2	0	CAPZA3	18783134	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.003000	0.49505	2.498000	0.84270	0.462000	0.41574	GCT		0.393	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		10	26	0	0	0	1	0	10	26					T	18891867	C	T	18891867	3	4	328	1	0	0	0	0	1	0	0	0	2642	797	28	2	667	2	CAPZA3	12	18891867	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		18891867	114960028	35	32537											
SLC15A4	121260	broad.mit.edu	37	chr12	129283824	129283824	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctgtgtgactgctcAtccatccgatggctttgata	9	10	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:129283824A>T	ENST00000266771.5	-	7	1592	c.1553T>A	c.(1552-1554)aTg>aAg	p.M518K	SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	518					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTGACTGCTCATCCATCCGAT	0.542																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(1552-1554)aTg>aAg		solute carrier family 15 (oligopeptide transporter), member 4							114	108	110					12																	129283824		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129283824A>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"Solute carriers"	23090	protein-coding gene	gene with protein product		615806	"solute carrier family 15, member 4"			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1553T>A	12.37:g.129283824A>T	ENSP00000266771:p.Met518Lys					SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	p.M518K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	7	1592	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		518					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1553T>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922419	0.73213	.	.	ENSG00000139370	ENST00000266771;ENST00000545031;ENST00000544112	T;T	0.11712	4.03;2.75	5.0	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	M	0.73598	2.24	0.80722	D	1	D	0.53745	0.962	P	0.54590	0.756	T	0.02526	-1.1146	10	0.28530	T	0.3	.	14.7193	0.69294	1.0:0.0:0.0:0.0	.	518	Q8N697	S15A4_HUMAN	K	518;35;181	ENSP00000266771:M518K;ENSP00000439946:M181K	ENSP00000266771:M518K	M	-	2	0	SLC15A4	127849777	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.569000	0.90744	1.873000	0.54277	0.533000	0.62120	ATG		0.542	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		51	74	0	0	0	1	0	51	74					T	129283824	A	T	129283824	3	4	328	1	0	0	0	0	1	0	0	0	14401	217	8	5	188	5	SLC15A4	12	129283824	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	110391957	129283824	4568071	36	32538											
CHD8	57680	broad.mit.edu	37	chr14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttttcgcttaacttggCggtttgagcgtctcttctgt	9	8	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:21884050C>T	ENST00000557364.1	-	6	1996	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R578H|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	578					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|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)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.R578H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378																																						ENST00000399982.2																			1	Substitution - Missense(1)	p.R578H(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1732-1734)cGc>cAc		chromodomain helicase DNA binding protein 8							189	178	182					14																	21884050		1836	4082	5918	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884050C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1733G>A	14.37:g.21884050C>T	ENSP00000451601:p.Arg578His					CHD8_ENST00000557364.1_Missense_Mutation_p.R578H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H	p.R578H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	1797	-	all_cancers(95;0.00121)		578					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1733G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928726	0.92389	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.67698	-0.28;-0.28;-0.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82623	-0.0366	10	0.87932	D	0	-8.1484	17.3917	0.87434	0.0:1.0:0.0:0.0	.	299	Q9HCK8-2	.	H	299;578;298;578	ENSP00000406288:R299H;ENSP00000382863:R578H;ENSP00000451601:R578H	ENSP00000262707:R298H	R	-	2	0	CHD8	20953890	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.260000	0.78391	2.636000	0.89361	0.655000	0.94253	CGC		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		26	25	0	0	0	1	0	26	25					T	21884050	C	T	21884050	3	4	328	1	0	0	0	0	1	0	0	0	3331	768	27	1	6144	1	CHD8	14	21884050	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21884050	85465490	37	32539											
EIF5	1983	broad.mit.edu	37	chr14	103802435	103802435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttgacgttgcaaaggcGcttaatcggcctccaacgtg	12	10	0	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:103802435G>A	ENST00000216554.3	+	4	811	c.135G>A	c.(133-135)gcG>gcA	p.A45A	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000392715.2_Silent_p.A45A|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTGCAAAGGCGCTTAATCGGC	0.408																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(133-135)gcG>gcA		eukaryotic translation initiation factor 5							63	56	59					14																	103802435		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802435G>A	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.135G>A	14.37:g.103802435G>A						EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000560200.1_Intron|EIF5_ENST00000392715.2_Silent_p.A45A	p.A45A	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		4	811	+		Melanoma(154;0.155)	45					Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.135G>A	CCDS9980.1																																																																																				0.408	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		18	6	0	0	0	1	0	18	6					A	103802435	G	A	103802435	2	1	328	1	0	0	0	0	0	0	0	1	5040	1074	38	1		1	EIF5	14	103802435	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	81918385	103802435	3547105	38	32540											
RYR3	6263	broad.mit.edu	37	chr15	34150114	34150114	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgcgacgacatgatgaCggtgagagcccacccactgc	13	12	0	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14141C>T	c.(14140-14142)aCg>aTg	p.T4714M	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Splice_Site_p.T4709M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					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)		GACATGATGACGGTGAGAGCC	0.582																																						ENST00000389232.4																			0				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						c.e99+1		ryanodine receptor 3							59	61	60					15																	34150114		2155	4275	6430	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34150114C>T		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.14142+1C>T	15.37:g.34150114C>T						RYR3_ENST00000415757.3_Splice_Site_p.T4709_splice	p.T4714_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	99	14211	+		all_lung(180;7.18e-09)	4714					O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.14142_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360006	0.82353	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98585	-5.01	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	L	0.39514	1.22	0.58432	D	0.999999	B;P	0.43662	0.088;0.814	B;P	0.50659	0.021;0.647	D	0.97072	0.9778	10	0.36615	T	0.2	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	4709;4714	Q15413-2;Q15413	.;RYR3_HUMAN	M	4714;4710	ENSP00000373884:T4714M	ENSP00000354735:T4710M	T	+	2	0	RYR3	31937406	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.487000	0.81328	2.624000	0.88883	0.655000	0.94253	ACG		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	26	32	0	0	0	1	0	26	32					T	34150114	C	T	34150114	5	4	328	1	0	0	0	0	0	0	1	0	13770	550	19	1	14535	1	RYR3	15	34150114	Splice_Site	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		34150114	68381278	39	32541											
PCSK6	5046	broad.mit.edu	37	chr15	101938646	101938646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaaagcctgcttagccagtCggccgggcccgtccaccgtc	12	17	0	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:101938646C>T	ENST00000348070.1	-	8	955	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	320	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAGCCAGTCGGCCGGGCCC	0.567																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)cGa>cAa		proprotein convertase subtilisin/kexin type 6							106	114	111					15																	101938646		1976	4194	6170	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938646C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.956G>A	15.37:g.101938646C>T	ENSP00000305056:p.Arg319Gln					PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	p.R319Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	955	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		320			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.956G>A		.	.	.	.	.	.	.	.	.	.	C	15.81	2.942668	0.53079	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.19	4.28	0.50868	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.282682	0.33235	N	0.005136	T	0.78123	0.4234	N	0.04768	-0.165	0.26786	N	0.969506	D;P;P;P;P;P;P;D;P	0.76494	0.999;0.791;0.71;0.851;0.78;0.923;0.946;0.965;0.878	P;B;B;B;B;B;B;B;B	0.56788	0.806;0.077;0.134;0.048;0.08;0.134;0.12;0.249;0.246	T	0.67856	-0.5562	10	0.18710	T	0.47	-12.2574	4.6127	0.12411	0.1626:0.6145:0.1393:0.0836	.	320;225;319;320;319;319;320;320;319	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	319;319;224;319;319;154	ENSP00000305056:R319Q;ENSP00000351193:R319Q;ENSP00000344410:R319Q;ENSP00000381243:R319Q;ENSP00000332052:R154Q	ENSP00000332052:R154Q	R	-	2	0	PCSK6	99756169	0.836000	0.29430	0.799000	0.32177	0.578000	0.36192	1.298000	0.33412	1.318000	0.45170	0.655000	0.94253	CGA		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		90	139	0	0	0	1	0	90	139					T	101938646	C	T	101938646	3	4	328	1	0	0	0	0	1	0	0	0	11604	884	31	1	2493	1	PCSK6	15	101938646	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	67788532	101938646	592746	40	32542											
MYH11	4629	broad.mit.edu	37	chr16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctcgtctctggcttggCgaattgcccgtgatttttct	9	12	3	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr16:15870006C>T	ENST00000300036.5	-	8	927	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MYH11_ENST00000452625.2_Missense_Mutation_p.R280H|MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000576790.2_Missense_Mutation_p.R273H	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(817-819)cGc>cAc		myosin, heavy chain 11, smooth muscle							314	287	296					16																	15870006		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15870006C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.818G>A	16.37:g.15870006C>T	ENSP00000300036:p.Arg273His					MYH11_ENST00000452625.2_Missense_Mutation_p.R280H|MYH11_ENST00000300036.5_Missense_Mutation_p.R273H|MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000576790.1_Missense_Mutation_p.R273H	p.R273H	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			8	924	-			273			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.818G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232322	0.95207	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.67397	2.05	0.80722	D	1	D;D;B;D;B	0.71674	0.989;0.998;0.235;0.998;0.007	D;D;B;D;B	0.67900	0.954;0.926;0.051;0.926;0.12	D	0.92488	0.5998	10	0.62326	D	0.03	.	18.8389	0.92174	0.0:1.0:0.0:0.0	.	280;273;280;273;280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	H	273;273;280;280;280	ENSP00000300036:R273H;ENSP00000345136:R273H;ENSP00000379616:R280H;ENSP00000407821:R280H	ENSP00000300036:R273H	R	-	2	0	MYH11	15777507	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.830000	0.69324	2.800000	0.96347	0.455000	0.32223	CGC		0.488	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		68	111	0	0	0	1	0	68	111					T	15870006	C	T	15870006	3	4	328	1	0	0	0	0	1	0	0	0	10031	768	27	1	5271	1	MYH11	16	15870006	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		15870006	74484747	41	32543											
MYH2	4620	broad.mit.edu	37	chr17	10432347	10432347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctctgctttggccCgggaggcccgctctgcctcg	13	16	2	0	rs151164070		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:10432347C>T	ENST00000245503.5	-	27	3788	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1135					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						TGCTTTGGCCCGGGAGGCCCG	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		17164	0.0		0.0	False		,,,				2504	0.001					ENST00000245503.5																			0				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						c.(3403-3405)cGg>cAg		myosin, heavy chain 2, skeletal muscle, adult		C	GLN/ARG,GLN/ARG	0,4398		0,0,2199	36	42	40		3404,3404	5.1	1	17	dbSNP_134	40	1,8579		0,1,4289	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	43,43	0,1,6488	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	1135/1942,1135/1942	10432347	1,12977	2199	4290	6489	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432347C>T		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.3404G>A	17.37:g.10432347C>T	ENSP00000245503:p.Arg1135Gln					MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1135Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3788	-			1135					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3404G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214445	0.95104	0.0	1.17E-4	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.91407	-2.84;-2.84	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.36628	U	0.002483	D	0.97068	0.9042	H	0.96633	3.855	0.51233	D	0.999914	D	0.76494	0.999	D	0.71870	0.975	D	0.98229	1.0482	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1135	Q9UKX2	MYH2_HUMAN	Q	1135	ENSP00000245503:R1135Q;ENSP00000380367:R1135Q	ENSP00000245503:R1135Q	R	-	2	0	MYH2	10373072	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	CGG		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		36	69	0	0	0	1	0	36	69					T	10432347	C	T	10432347	3	4	328	1	0	0	0	0	1	0	0	0	10035	652	23	1	2477	1	MYH2	17	10432347	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		10432347	70762863	42	32544											
MUC16	94025	broad.mit.edu	37	chr19	9076533	9076533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaccaggctggttccaAtgacagttatacggccatgg	13	9	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:9076533A>G	ENST00000397910.4	-	3	11116	c.10913T>C	c.(10912-10914)aTt>aCt	p.I3638T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3639	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						GCTGGTTCCAATGACAGTTAT	0.448																																						ENST00000397910.4																			0				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						c.(10912-10914)aTt>aCt		mucin 16, cell surface associated							121	126	124					19																	9076533		1983	4167	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076533A>G	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.10913T>C	19.37:g.9076533A>G	ENSP00000381008:p.Ile3638Thr						p.I3638T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11116	-			3639			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10913T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.893	-0.724798	0.03158	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.03	-4.07	0.03975	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.43147	-0.9409	8	0.87932	D	0	.	8.0724	0.30697	0.7034:0.0:0.2966:0.0	.	3638	B5ME49	.	T	3638	ENSP00000381008:I3638T	ENSP00000381008:I3638T	I	-	2	0	MUC16	8937533	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.511000	0.00446	-1.299000	0.02344	-1.843000	0.00578	ATT		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	38	0	0	0	1	0	30	38					G	9076533	A	G	9076533	3	3	328	1	0	0	0	0	1	0	0	0	9973	101	4	3	32938	3	MUC16	19	9076533	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		9076533	50052450	43	32545											
LILRA6	79168	broad.mit.edu	37	chr19	54742930	54742930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccatgcccatgcggaTgagattctccactgtgtaat	10	12	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:54742930T>C	ENST00000396365.2	-	8	1384	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	449					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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;0.105)		CCCATGCGGATGAGATTCTCC	0.582																																						ENST00000396365.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1345-1347)Atc>Gtc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							122	109	113					19																	54742930		2178	4299	6477	SO:0001583	missense	79168							g.chr19:54742930T>C	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1345A>G	19.37:g.54742930T>C	ENSP00000379651:p.Ile449Val					LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRA6_ENST00000440558.2_Intron	p.I449V	NM_024318.2	NP_077294.2				GBM - Glioblastoma multiforme(193;0.105)	8	1384	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.1345A>G	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	8.861	0.947025	0.18356	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00545	6.67;6.82	2.69	1.49	0.22878	.	10.705300	0.00481	N	0.000138	T	0.00815	0.0027	M	0.67953	2.075	0.09310	N	0.999999	B	0.12630	0.006	B	0.01281	0.0	T	0.50898	-0.8773	10	0.54805	T	0.06	.	5.1718	0.15114	0.0:0.0:0.3066:0.6934	.	449	Q6PI73	LIRA6_HUMAN	V	449;432	ENSP00000379651:I449V;ENSP00000245621:I432V	ENSP00000245621:I432V	I	-	1	0	LILRA6	59434742	0.018000	0.18449	0.451000	0.26982	0.168000	0.22595	-0.515000	0.06290	1.239000	0.43787	0.147000	0.16070	ATC		0.582	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		32	84	0	0	0	1	0	32	84					C	54742930	T	C	54742930	3	2	328	1	0	0	0	0	1	0	0	0	8789	1464	51	3	104	3	LILRA6	19	54742930	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	45666397	54742930	4386053	44	32546											
CDC25B	994	broad.mit.edu	37	chr20	3782703	3782703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcagaataagcggaggCggagcgtgacccctcctgag	15	12	0	3	rs577722969		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:3782703C>T	ENST00000245960.5	+	10	1751	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	352					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TAAGCGGAGGCGGAGCGTGAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16971	0.0		0.001	False		,,,				2504	0.0					ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1054-1056)Cgg>Tgg		cell division cycle 25B							29	25	26					20																	3782703		2195	4283	6478	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782703C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1054C>T	20.37:g.3782703C>T	ENSP00000245960:p.Arg352Trp					CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W	p.R352W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			10	1751	+			352					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1054C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174882	0.57692	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.62	3.52	0.40303	.	0.324362	0.30492	N	0.009518	T	0.44222	0.1283	M	0.62723	1.935	0.37349	D	0.910703	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.73380	0.98;0.98;0.98;0.944;0.944;0.933	T	0.49532	-0.8930	10	0.72032	D	0.01	-10.493	9.7477	0.40457	0.8153:0.1847:0.0:0.0	.	261;274;288;311;338;352	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	W	288;261;352;338;311	ENSP00000339125:R288W;ENSP00000368918:R261W;ENSP00000245960:R352W;ENSP00000405972:R338W;ENSP00000339170:R311W	ENSP00000245960:R352W	R	+	1	2	CDC25B	3730703	0.989000	0.36119	0.966000	0.40874	0.654000	0.38779	3.094000	0.50227	0.741000	0.32674	-0.467000	0.05162	CGG		0.657	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		7	9	0	0	0	1	0	7	9					T	3782703	C	T	3782703	3	4	328	1	0	0	0	0	1	0	0	0	3063	759	27	1	1092	1	CDC25B	20	3782703	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		3782703	59242817	45	32547											
NAA20	51126	broad.mit.edu	37	chr20	19998065	19998065	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctacgggcctttaccTgcgacgacctgttccgcttc	9	17	0	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:19998065T>A	ENST00000334982.4	+	1	306	c.25T>A	c.(25-27)Tgc>Agc	p.C9S	NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.C9S	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	9	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GGCCTTTACCTGCGACGACCT	0.716																																						ENST00000334982.4																			0				endometrium(3)|lung(2)|prostate(1)	6						c.(25-27)Tgc>Agc		N(alpha)-acetyltransferase 20, NatB catalytic subunit							28	25	26					20																	19998065		2202	4294	6496	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:19998065T>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"N(alpha)-acetyltransferase subunits"	15908	protein-coding gene	gene with protein product	"N-acetyltransferase 3 homolog (S. cerevisiae)"	610833	"N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)", "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)", "N-acetyltransferase 5", "N-acetyltransferase 5 (GCN5-related, putative)"	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.25T>A	20.37:g.19998065T>A	ENSP00000335636:p.Cys9Ser					NAA20_ENST00000310450.4_Missense_Mutation_p.C9S|NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000484480.1_3'UTR	p.C9S	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN			1	306	+			9			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.25T>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330353	0.81690	.	.	ENSG00000173418	ENST00000334982;ENST00000310450	T;T	0.54071	0.61;0.59	4.29	4.29	0.51040	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.65498	2.005	0.80722	D	1	P;B	0.43542	0.81;0.399	B;B	0.42495	0.389;0.147	T	0.55585	-0.8118	9	.	.	.	-24.1222	12.5867	0.56421	0.0:0.0:0.0:1.0	.	9;9	A6NHA3;P61599	.;NAA20_HUMAN	S	9	ENSP00000335636:C9S;ENSP00000311027:C9S	.	C	+	1	0	NAA20	19946065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	1.796000	0.52611	0.472000	0.43445	TGC		0.716	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		11	27	0	0	0	1	0	11	27					A	19998065	T	A	19998065	3	1	328	1	0	0	0	0	1	0	0	0	10120	1580	55	5	27	5	NAA20	20	19998065	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16215362	19998065	43027455	46	32548											
EPHA8	2046	broad.mit.edu	37	chr1	22923871	22923871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagccccagttctatgCggaaccccacacctacgagg	9	17	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:22923871C>T	ENST00000166244.3	+	10	1904	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	611	Mediates interaction with PIK3CG and required for endocytosis. {ECO:0000250}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGTTCTATGCGGAACCCCAC	0.652																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1831-1833)gCg>gTg		EPH receptor A8							56	69	65					1																	22923871		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22923871C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1832C>T	1.37:g.22923871C>T	ENSP00000166244:p.Ala611Val						p.A611V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	1904	+		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)	611					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1832C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	5.053	0.195401	0.09599	.	.	ENSG00000070886	ENST00000166244	T	0.05025	3.51	4.63	4.63	0.57726	Protein kinase-like domain (1);	0.318308	0.29861	N	0.011014	T	0.02047	0.0064	N	0.01267	-0.92	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51601	-0.8685	10	0.19590	T	0.45	.	6.89	0.24224	0.0:0.8133:0.0:0.1867	.	611	P29322	EPHA8_HUMAN	V	611	ENSP00000166244:A611V	ENSP00000166244:A611V	A	+	2	0	EPHA8	22796458	1.000000	0.71417	0.349000	0.25694	0.035000	0.12851	5.991000	0.70602	2.412000	0.81896	0.491000	0.48974	GCG		0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		21	120	0	0	0	1	0	21	120					T	22923871	C	T	22923871	3	4	329	1	0	0	0	0	1	0	0	0	5173	768	27	1	2043	1	EPHA8	1	22923871	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		22923871	226326750	1	32549											
OSBPL9	114883	broad.mit.edu	37	chr1	52252272	52252272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagttggaagatcagaaCgagtatgaatcccgcaggta	13	6	1	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:52252272C>T	ENST00000428468.1	+	22	1985	c.1983C>T	c.(1981-1983)aaC>aaT	p.N661N	OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000530544.1_Silent_p.N580N|OSBPL9_ENST00000371710.3_Silent_p.N679N|NRD1_ENST00000485608.1_5'Flank|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000361556.5_Silent_p.N551N			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	661					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						AAGATCAGAACGAGTATGAAT	0.438																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(2035-2037)aaC>aaT		oxysterol binding protein-like 9							98	90	93					1																	52252272		2203	4300	6503	SO:0001819	synonymous_variant	114883				lipid transport		lipid binding	g.chr1:52252272C>T	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.1983C>T	1.37:g.52252272C>T						OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000428468.1_Silent_p.N661N|OSBPL9_ENST00000361556.5_Silent_p.N551N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000530544.1_Silent_p.N580N	p.N679N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			22	2219	+			661					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	c.2037C>T	CCDS41332.3																																																																																				0.438	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			9	34	0	0	0	1	0	9	34					T	52252272	C	T	52252272	2	4	329	1	0	0	0	0	0	0	0	1	11284	535	19	1		1	OSBPL9	1	52252272	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	29328401	52252272	196998349	2	32550											
ANKRD13C	81573	broad.mit.edu	37	chr1	70779456	70779456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatcccagtgaagttcTagataaaagtcacctagctg	8	8	2	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:70779456T>C	ENST00000370944.4	-	5	994	c.681A>G	c.(679-681)ctA>ctG	p.L227L	ANKRD13C_ENST00000262346.6_Silent_p.L192L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	227					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTGAAGTTCTAGATAAAAGT	0.289																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(679-681)ctA>ctG		ankyrin repeat domain 13C							71	81	78					1																	70779456		2202	4287	6489	SO:0001819	synonymous_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70779456T>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.681A>G	1.37:g.70779456T>C						ANKRD13C_ENST00000262346.6_Silent_p.L192L	p.L227L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			5	994	-			227					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	c.681A>G	CCDS648.2																																																																																				0.289	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		16	65	0	0	0	1	0	16	65					C	70779456	T	C	70779456	2	2	329	1	0	0	0	0	0	0	0	1	643	1509	53	3		3	ANKRD13C	1	70779456	Silent	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	18527184	70779456	178471165	3	32551											
FLG2	388698	broad.mit.edu	37	chr1	152326021	152326021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccttcttccagttgtcctgGaccctctctgtgtggactgt	9	14	2	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:152326021G>T	ENST00000388718.5	-	3	4313	c.4241C>A	c.(4240-4242)tCc>tAc	p.S1414Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1414					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)			AGTTGTCCTGGACCCTCTCTG	0.512																																						ENST00000388718.5																			0				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						c.(4240-4242)tCc>tAc		filaggrin family member 2							264	250	254					1																	152326021		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326021G>T	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.4241C>A	1.37:g.152326021G>T	ENSP00000373370:p.Ser1414Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1414Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4313	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1414					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4241C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	9.113	1.006980	0.19199	.	.	ENSG00000143520	ENST00000388718	T	0.08634	3.07	3.75	-0.957	0.10350	.	.	.	.	.	T	0.04952	0.0133	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.51615	0.675	T	0.16188	-1.0411	9	0.62326	D	0.03	3.4826	2.3614	0.04308	0.1012:0.1618:0.4055:0.3315	.	1414	Q5D862	FILA2_HUMAN	Y	1414	ENSP00000373370:S1414Y	ENSP00000373370:S1414Y	S	-	2	0	FLG2	150592645	0.058000	0.20735	0.000000	0.03702	0.001000	0.01503	1.934000	0.40163	-0.461000	0.06993	-1.553000	0.00894	TCC		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		49	215	1	0	9.22156e-22	1	9.89961e-22	49	215					T	152326021	G	T	152326021	3	4	329	1	0	0	0	0	1	0	0	0	5923	1174	41	4	2938	4	FLG2	1	152326021	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	81546565	152326021	96924600	4	32552											
LAMB3	3914	broad.mit.edu	37	chr1	209788707	209788707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtcaggtccgctgagCgcagcatgatggcctggctg	15	12	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:209788707C>T	ENST00000356082.4	-	23	3562	c.3428G>A	c.(3427-3429)cGc>cAc	p.R1143H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H|LAMB3_ENST00000391911.1_Missense_Mutation_p.R1143H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1143	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)		GTCCGCTGAGCGCAGCATGAT	0.587																																						ENST00000391911.1																			0				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						c.(3427-3429)cGc>cAc		laminin, beta 3							111	91	98					1																	209788707		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209788707C>T	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.3428G>A	1.37:g.209788707C>T	ENSP00000348384:p.Arg1143His					LAMB3_ENST00000356082.4_Missense_Mutation_p.R1143H|LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H	p.R1143H	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	22	3817	-			1143			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3428G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890879	0.72524	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37058	1.22;1.22;1.22	5.42	3.55	0.40652	.	0.132901	0.45126	D	0.000395	T	0.26159	0.0638	L	0.29908	0.895	0.27255	N	0.958772	D	0.58268	0.982	P	0.45276	0.475	T	0.11842	-1.0571	10	0.56958	D	0.05	.	5.8321	0.18586	0.0:0.6896:0.0:0.3104	.	1143	Q13751	LAMB3_HUMAN	H	1143	ENSP00000375778:R1143H;ENSP00000348384:R1143H;ENSP00000355997:R1143H	ENSP00000348384:R1143H	R	-	2	0	LAMB3	207855330	0.999000	0.42202	0.976000	0.42696	0.930000	0.56654	2.027000	0.41078	1.293000	0.44690	0.455000	0.32223	CGC		0.587	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		13	44	0	0	0	1	0	13	44					T	209788707	C	T	209788707	3	4	329	1	0	0	0	0	1	0	0	0	8612	768	27	1	94	1	LAMB3	1	209788707	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	57462686	209788707	39461914	5	32553											
RYR2	6262	broad.mit.edu	37	chr1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccggctctactcagccGtctgtgctcttgggaaccac	9	16	5	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:237777418G>A	ENST00000366574.2	+	37	5307	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I	RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I|RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	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)	p.V1662L(1)		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)			CTACTCAGCCGTCTGTGCTCT	0.517																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.V1662L(1)	lung(1)	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						c.(4990-4992)Gtc>Atc		ryanodine receptor 2 (cardiac)							65	66	65					1																	237777418		2026	4196	6222	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777418G>A	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.4990G>A	1.37:g.237777418G>A	ENSP00000355533:p.Val1664Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I|RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I	p.V1664I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5307	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1664			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4990G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931319	0.52866	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96940	-4.18;-4.15;-4.17	5.78	5.78	0.91487	.	0.095940	0.42420	D	0.000720	D	0.95720	0.8608	M	0.72118	2.19	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	D	0.92836	0.6284	10	0.62326	D	0.03	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	1664	Q92736	RYR2_HUMAN	I	1664;1662;1648	ENSP00000355533:V1664I;ENSP00000353174:V1662I;ENSP00000443798:V1648I	ENSP00000353174:V1662I	V	+	1	0	RYR2	235844041	1.000000	0.71417	0.893000	0.35052	0.995000	0.86356	3.722000	0.54948	2.730000	0.93505	0.655000	0.94253	GTC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	22	0	0	0	1	0	10	22					A	237777418	G	A	237777418	3	1	329	1	0	0	0	0	1	0	0	0	13769	1145	40	1	5136	1	RYR2	1	237777418	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	27988711	237777418	11473203	6	32554											
LRP2	4036	broad.mit.edu	37	chr2	170093742	170093742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctgtccagtaaagattaCgacctacccaatctattgca	6	11	2	1	rs200469773		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:170093742C>T	ENST00000263816.3	-	28	4847	c.4562G>A	c.(4561-4563)cGt>cAt	p.R1521H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1521					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)"	GTAAAGATTACGACCTACCCA	0.363													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19333	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				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						c.(4561-4563)cGt>cAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131	122	126		4562	5.3	1	2		126	0,8600		0,0,4300	yes	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1521/4656	170093742	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093742C>T		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.4562G>A	2.37:g.170093742C>T	ENSP00000263816:p.Arg1521His						p.R1521H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4847	-			1521					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4562G>A	CCDS2232.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.8	4.775447	0.90108	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.96396	-4.0	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.050975	0.85682	D	0.000000	D	0.97870	0.9300	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97690	1.0178	10	0.45353	T	0.12	.	19.3646	0.94456	0.0:1.0:0.0:0.0	.	1521	P98164	LRP2_HUMAN	H	1521	ENSP00000263816:R1521H	ENSP00000263816:R1521H	R	-	2	0	LRP2	169801988	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.920000	0.63390	2.639000	0.89480	0.650000	0.86243	CGT		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		15	49	0	0	0	1	0	15	49					T	170093742	C	T	170093742	3	4	329	1	0	0	0	0	1	0	0	0	8956	536	19	1	9613	1	LRP2	2	170093742	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		170093742	73105631	7	32555											
NEU2	4759	broad.mit.edu	37	chr2	233899438	233899438	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagccgccgccccagggcTgccaggggagcgtcatcagc	16	15	2	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:233899438T>G	ENST00000233840.3	+	2	814	c.814T>G	c.(814-816)Tgc>Ggc	p.C272G		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	272					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GCCCCAGGGCTGCCAGGGGAG	0.682																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(814-816)Tgc>Ggc		sialidase 2 (cytosolic sialidase)							16	19	18					2																	233899438		2201	4292	6493	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899438T>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.814T>G	2.37:g.233899438T>G	ENSP00000233840:p.Cys272Gly						p.C272G	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	814	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	272					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.814T>G	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906039	0.52333	.	.	ENSG00000115488	ENST00000233840	D	0.85861	-2.04	4.91	4.91	0.64330	Neuraminidase (2);	0.000000	0.64402	D	0.000002	D	0.93054	0.7789	M	0.89095	3.005	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.94251	0.7493	10	0.87932	D	0	-34.0168	13.7497	0.62899	0.0:0.0:0.0:1.0	.	272	Q9Y3R4	NEUR2_HUMAN	G	272	ENSP00000233840:C272G	ENSP00000233840:C272G	C	+	1	0	NEU2	233607682	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.783000	0.85696	1.830000	0.53286	0.533000	0.62120	TGC		0.682	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		6	18	0	0	0	1	0	6	18					G	233899438	T	G	233899438	3	3	329	1	0	0	0	0	1	0	0	0	10342	1580	55	5	820	5	NEU2	2	233899438	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	63805696	233899438	9299935	8	32556											
SETD2	29072	broad.mit.edu	37	chr3	47161888	47161891	+	Frame_Shift_Del	DEL	CTCT	CTCT	-													caccatcactttcagaatcaCtctctatttcctgcctcctt							TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:47161888_47161891delCTCT	ENST00000409792.3	-	3	4277_4280	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1412					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAGAATCACTCTCTATTTCCTG	0.412			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4234-4239)gtfs		SET domain containing 2				1,4265		0,1,2132						2.8	1			160	2,8252		1,0,4126	no	frameshift	SETD2	NM_014159.6		1,1,6258	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161888_47161891delCTCT	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4235_4238delAGAG	3.37:g.47161888_47161891delCTCT	ENSP00000386759:p.Glu1412fs						p.ES1412fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4277_4280	-		Acute lymphoblastic leukemia(5;0.0169)	1412					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.4235_4238delAGAG	CCDS2749.2																																																																																				0.412	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		12	54						12	54	---	---	---	---	-	47161891	CTCT	-	47161888	7	5	329	1	0	1	0	1	0	0	0	0	14131	565	20	0	3532	0	SETD2	3	47161888	Frame_Shift_Del	DEL	CTCT	TCGA-HT-A74H-01A-11D-A32B-08		47161888	150860542	9	32557											
ZPLD1	131368	broad.mit.edu	37	chr3	102187849	102187849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgtcattgagaatggccGaagccagcggggccggtttt	14	11	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:102187849G>A	ENST00000491959.1	+	15	1685	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	ZPLD1_ENST00000306176.1_Missense_Mutation_p.R284Q|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	268	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGAATGGCCGAAGCCAGCGG	0.478																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(850-852)cGa>cAa		zona pellucida-like domain containing 1							73	73	73					3																	102187849		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102187849G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.803G>A	3.37:g.102187849G>A	ENSP00000420265:p.Arg268Gln					ZPLD1_ENST00000491959.1_Missense_Mutation_p.R268Q|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q	p.R284Q	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			8	951	+			268			ZP.		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.851G>A		.	.	.	.	.	.	.	.	.	.	G	13.74	2.328121	0.41197	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.81499	-1.5;-1.5;-1.5	5.46	3.4	0.38934	Zona pellucida sperm-binding protein (3);	0.085474	0.85682	D	0.000000	T	0.49813	0.1579	N	0.03608	-0.345	0.35690	D	0.8148	B;B	0.31680	0.335;0.044	B;B	0.24394	0.024;0.053	T	0.51631	-0.8681	10	0.13853	T	0.58	-0.9162	4.1468	0.10220	0.4932:0.0:0.5067:0.0	.	284;268	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	Q	268;284;268	ENSP00000420265:R268Q;ENSP00000307801:R284Q;ENSP00000418253:R268Q	ENSP00000307801:R284Q	R	+	2	0	ZPLD1	103670539	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.338000	0.59316	1.299000	0.44798	0.455000	0.32223	CGA		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		8	46	0	0	0	1	0	8	46					A	102187849	G	A	102187849	3	1	329	1	0	0	0	0	1	0	0	0	18218	1058	37	1	881	1	ZPLD1	3	102187849	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	55025961	102187849	95834581	10	32558											
PLXNA1	5361	broad.mit.edu	37	chr3	126749159	126749159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccggggctcagccctgcCgctggccatcaagtacatgt	11	15	2	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:126749159C>T	ENST00000393409.2	+	28	5135	c.5135C>T	c.(5134-5136)cCg>cTg	p.P1712L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1712					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)		TCAGCCCTGCCGCTGGCCATC	0.602																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5134-5136)cCg>cTg		plexin A1							121	110	114					3																	126749159		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749159C>T	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.5135C>T	3.37:g.126749159C>T	ENSP00000377061:p.Pro1712Leu					PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L	p.P1712L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5135	+			1712						Missense_Mutation	SNP	ENST00000393409.2	37	c.5135C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399025	0.83120	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.71341	-0.56;-0.56	3.39	3.39	0.38822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.162697	0.40302	N	0.001132	D	0.86602	0.5972	M	0.92923	3.36	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.70935	0.971;0.892	D	0.90556	0.4512	10	0.72032	D	0.01	.	15.2982	0.73925	0.0:1.0:0.0:0.0	.	326;1712	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	L	1712;1689	ENSP00000377061:P1712L;ENSP00000251772:P1689L	ENSP00000251772:P1689L	P	+	2	0	PLXNA1	128231849	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.464000	0.80887	1.885000	0.54596	0.313000	0.20887	CCG		0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	80	0	0	0	1	0	22	80					T	126749159	C	T	126749159	3	4	329	1	0	0	0	0	1	0	0	0	12119	652	23	1	5245	1	PLXNA1	3	126749159	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	24561310	126749159	71273271	11	32559											
ATP8A1	10396	broad.mit.edu	37	chr4	42626599	42626600	+	Frame_Shift_Del	DEL	AA	AA	-													ctgccacagctaaaataaatAagagaggaaccagtgttgta							TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:42626599_42626600delAA	ENST00000381668.5	-	4	547_548	c.316_317delTT	c.(316-318)ttafs	p.L106fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	106					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAAAATAAATAAGAGAGGAACC	0.292																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(316-318)afs		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42626599_42626600delAA	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.316_317delTT	4.37:g.42626599_42626600delAA	ENSP00000371084:p.Leu106fs					ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs	p.L106fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			4	547_548	-			106					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Frame_Shift_Del	DEL	ENST00000381668.5	37	c.316_317delTT	CCDS3466.1																																																																																				0.292	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		9	38						9	38	---	---	---	---	-	42626600	AA	-	42626599	7	5	329	1	0	1	0	1	0	0	0	0	1192	372	13	0	3391	0	ATP8A1	4	42626599	Frame_Shift_Del	DEL	AA	TCGA-HT-A74H-01A-11D-A32B-08		42626599	148527677	12	32560											
SHROOM3	57619	broad.mit.edu	37	chr4	77661986	77661986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggacgctcggctcctccGtagccagagcaccttccagc	11	18	0	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:77661986G>A	ENST00000296043.6	+	5	3613	c.2660G>A	c.(2659-2661)cGt>cAt	p.R887H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	887					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)			CGGCTCCTCCGTAGCCAGAGC	0.711																																						ENST00000296043.6																			0				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						c.(2659-2661)cGt>cAt		shroom family member 3							8	11	10					4																	77661986		2118	4173	6291	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661986G>A	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.2660G>A	4.37:g.77661986G>A	ENSP00000296043:p.Arg887His						p.R887H	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3613	+			887					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2660G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	g	26.2	4.710541	0.89112	.	.	ENSG00000138771	ENST00000296043	T	0.48522	0.81	5.43	5.43	0.79202	Apx/shroom, ASD1 (1);	1.523020	0.04137	N	0.318872	T	0.74612	0.3739	M	0.75447	2.3	0.39174	D	0.962656	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.59984	-0.7351	10	0.72032	D	0.01	-23.3857	17.4154	0.87498	0.0:0.0:1.0:0.0	.	711;887;665	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	H	887	ENSP00000296043:R887H	ENSP00000296043:R887H	R	+	2	0	SHROOM3	77881010	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.186000	0.58337	2.540000	0.85666	0.558000	0.71614	CGT		0.711	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	15	0	0	0	1	0	5	15					A	77661986	G	A	77661986	3	1	329	1	0	0	0	0	1	0	0	0	14295	1145	40	1	2678	1	SHROOM3	4	77661986	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	35035387	77661986	113492290	13	32561											
FAT4	79633	broad.mit.edu	37	chr4	126355498	126355498	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagcgtatttcacaacaAttcctgaggatgcaccaact	7	10	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:126355498A>G	ENST00000394329.3	+	7	7130	c.7117A>G	c.(7117-7119)Att>Gtt	p.I2373V	FAT4_ENST00000335110.5_Missense_Mutation_p.I671V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2373	Cadherin 23. {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						TTTCACAACAATTCCTGAGGA	0.413																																						ENST00000394329.3																			0				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						c.(7117-7119)Att>Gtt		FAT atypical cadherin 4							205	171	183					4																	126355498		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126355498A>G	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.7117A>G	4.37:g.126355498A>G	ENSP00000377862:p.Ile2373Val					FAT4_ENST00000335110.5_Missense_Mutation_p.I671V	p.I2373V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			7	7130	+			2373			Cadherin 23.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7117A>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	4.902	0.167606	0.09339	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.47869	0.83;0.83	5.0	3.82	0.43975	Cadherin (3);Cadherin-like (1);	0.227117	0.21785	U	0.069154	T	0.25082	0.0609	N	0.17345	0.48	0.40528	D	0.980908	B;B	0.14012	0.006;0.009	B;B	0.15870	0.009;0.014	T	0.11299	-1.0593	10	0.02654	T	1	.	8.5926	0.33697	0.8316:0.0:0.1684:0.0	.	671;2373	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2373;671	ENSP00000377862:I2373V;ENSP00000335169:I671V	ENSP00000335169:I671V	I	+	1	0	FAT4	126574948	0.891000	0.30450	0.820000	0.32676	0.967000	0.64934	1.821000	0.39041	0.926000	0.37118	0.533000	0.62120	ATT		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	84	0	0	0	1	0	23	84					G	126355498	A	G	126355498	3	3	329	1	0	0	0	0	1	0	0	0	5692	101	4	3	7143	3	FAT4	4	126355498	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08	48693512	126355498	64798778	14	32562											
AHRR	57491	broad.mit.edu	37	chr5	413482	413482	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatggctttgctctggtCgtgagtgcagaagggacgat	14	7	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:413482C>T	ENST00000505113.1	+	5	431	c.387C>T	c.(385-387)gtC>gtT	p.V129V	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000316418.5_Silent_p.V129V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	129	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCTCTGGTCGTGAGTGCAG	0.398																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(385-387)gtC>gtT		aryl-hydrocarbon receptor repressor							141	124	129					5																	413482		1880	4105	5985	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:413482C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.387C>T	5.37:g.413482C>T						AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.V129V	p.V129V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	431	+			129			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.387C>T	CCDS56355.1																																																																																				0.398	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		21	76	0	0	0	1	0	21	76					T	413482	C	T	413482	2	4	329	1	0	0	0	0	0	0	0	1	417	871	31	1		1	AHRR	5	413482	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		413482	180501778	15	32563											
DDX46	9879	broad.mit.edu	37	chr5	134102743	134102743	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaataaaagcaagaaaactGagaataggtaatgttatcat	8	3	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:134102743G>A	ENST00000354283.4	+	3	478	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DDX46_ENST00000452510.2_Missense_Mutation_p.E115K			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	115					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)			CAAGAAAACTGAGAATAGGTA	0.468																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				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						c.(343-345)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							42	48	46					5																	134102743		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134102743G>A		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.343G>A	5.37:g.134102743G>A	ENSP00000346236:p.Glu115Lys					DDX46_ENST00000354283.4_Missense_Mutation_p.E115K	p.E115K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	501	+			115					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.343G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573344	0.65765	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.39229	1.09;1.09	5.48	5.48	0.80851	.	0.111665	0.64402	D	0.000015	T	0.30572	0.0769	N	0.25647	0.755	0.80722	D	1	B	0.30482	0.281	B	0.24848	0.056	T	0.10109	-1.0644	10	0.10377	T	0.69	-13.6747	19.387	0.94560	0.0:0.0:1.0:0.0	.	115	Q7L014	DDX46_HUMAN	K	115	ENSP00000416534:E115K;ENSP00000346236:E115K	ENSP00000346236:E115K	E	+	1	0	DDX46	134130642	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	6.587000	0.74071	2.572000	0.86782	0.655000	0.94253	GAG		0.468	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		3	35	0	0	0	1	0	3	35					A	134102743	G	A	134102743	3	1	329	1	0	0	0	0	1	0	0	0	4364	1291	45	2	353	2	DDX46	5	134102743	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	133689261	134102743	46812517	16	32564											
PCDHA7	56141	broad.mit.edu	37	chr5	140215578	140215578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcagttccaggtgagcgCgcgcgatgcgggcgtgccgc	18	12	0	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:140215578C>T	ENST00000525929.1	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	537	Cadherin 5. {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)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGATGCG	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1609-1611)gCg>gTg									76	84	81					5																	140215578		2202	4297	6499	SO:0001583	missense	0							g.chr5:140215578C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1610C>T	5.37:g.140215578C>T	ENSP00000436426:p.Ala537Val					PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A537V	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1610C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343932	0.61073	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.73363	-0.74;-0.74	3.91	3.91	0.45181	Cadherin (5);Cadherin-like (1);	0.288789	0.17558	U	0.169928	D	0.85057	0.5610	M	0.82923	2.615	0.39028	D	0.959872	D;D	0.71674	0.986;0.998	D;P	0.65573	0.936;0.787	D	0.87578	0.2482	10	0.72032	D	0.01	.	11.9327	0.52855	0.0:0.9103:0.0:0.0897	.	537;537	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	537	ENSP00000436426:A537V;ENSP00000367365:A537V	ENSP00000367365:A537V	A	+	2	0	PCDHA7	140195762	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	4.473000	0.60196	1.877000	0.54381	0.313000	0.20887	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		38	130	0	0	0	1	0	38	130					T	140215578	C	T	140215578	3	4	329	1	0	0	0	0	1	0	0	0	11529	768	27	1	1612	1	PCDHA7	5	140215578	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	6112835	140215578	40699682	17	32565											
RANBP17	64901	broad.mit.edu	37	chr5	170345766	170345766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgtcgatttttggctcGtttaaagacaaattatcagc	7	6	1	1	rs201397836		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:170345766G>A	ENST00000523189.1	+	10	1168	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	335					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTGGCTCGTTTAAAGACA	0.338			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1003-1005)cGt>cAt		RAN binding protein 17							137	135	135					5																	170345766		2202	4299	6501	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170345766G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1004G>A	5.37:g.170345766G>A	ENSP00000427975:p.Arg335His						p.R335H	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1168	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	335					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1004G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.739561	0.89573	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.50277	0.75	5.74	4.87	0.63330	Armadillo-type fold (1);	0.100148	0.45126	N	0.000395	T	0.75428	0.3848	M	0.94021	3.485	0.48341	D	0.999631	D	0.89917	1.0	D	0.73708	0.981	T	0.82331	-0.0510	10	0.66056	D	0.02	-6.8733	14.1487	0.65367	0.0727:0.0:0.9273:0.0	.	335	Q9H2T7	RBP17_HUMAN	H	335;231	ENSP00000427975:R335H	ENSP00000373770:R335H	R	+	2	0	RANBP17	170278371	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.326000	0.65875	1.423000	0.47198	0.491000	0.48974	CGT		0.338	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		9	39	0	0	0	1	0	9	39					A	170345766	G	A	170345766	3	1	329	1	0	0	0	0	1	0	0	0	13027	1145	40	1	1042	1	RANBP17	5	170345766	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	30130188	170345766	10569494	18	32566											
LTV1	84946	broad.mit.edu	37	chr6	144167303	144167303	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccttcagagcttattccctCaagtaccttcagtgcacaca	6	14	3	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr6:144167303C>A	ENST00000367576.5	+	3	385	c.251C>A	c.(250-252)tCa>tAa	p.S84*		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	84						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)		CTTATTCCCTCAAGTACCTTC	0.463																																						ENST00000367576.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(250-252)tCa>tAa		LTV1 homolog (S. cerevisiae)							94	85	88					6																	144167303		2203	4300	6503	SO:0001587	stop_gained	84946							g.chr6:144167303C>A	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.251C>A	6.37:g.144167303C>A	ENSP00000356548:p.Ser84*						p.S84*	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	3	385	+			84					Q96JX8	Nonsense_Mutation	SNP	ENST00000367576.5	37	c.251C>A	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932106	0.97116	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.65	4.75	0.60458	.	0.459886	0.26377	N	0.024722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9247	0.41485	0.0:0.7331:0.1862:0.0807	.	.	.	.	X	84	.	ENSP00000356548:S84X	S	+	2	0	LTV1	144208996	0.001000	0.12720	0.028000	0.17463	0.375000	0.29983	1.360000	0.34125	1.249000	0.43950	0.650000	0.86243	TCA		0.463	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		4	32	1	0	0.150653	1	0.150653	4	32					A	144167303	C	A	144167303	4	1	329	1	0	0	0	0	0	1	0	0	9081	838	29	4	261	4	LTV1	6	144167303	Nonsense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		144167303	26947764	19	32567											
IKZF1	10320	broad.mit.edu	37	chr7	50468070	50468070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggagcaccgcgcctaCgacctgctgcgcgccgcctc	13	17	0	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:50468070C>T	ENST00000331340.3	+	8	1460	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.Y348Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	435					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCGCGCCTACGACCTGCTGC	0.672			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1303-1305)taC>taT		IKAROS family zinc finger 1 (Ikaros)							29	33	32					7																	50468070		2127	4231	6358	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468070C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1305C>T	7.37:g.50468070C>T						IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000438033.1_Silent_p.Y348Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y	p.Y435Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1460	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	435					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1305C>T																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		7	34	0	0	0	1	0	7	34					T	50468070	C	T	50468070	2	4	329	1	0	0	0	0	0	0	0	1	7614	547	19	1		1	IKZF1	7	50468070	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		50468070	108670593	20	32568											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		2	4						2	4	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	329	1	0	1	1	0	0	0	0	0	4575	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-HT-A74H-01A-11D-A32B-08	46167350	96635420	62503243	21	32569											
MUC17	140453	broad.mit.edu	37	chr7	100681032	100681032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtatacctctcagcaccaCgccggtggccagtcctgagg	11	14	1	1	rs138732859		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:100681032C>T	ENST00000306151.4	+	3	6399	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	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)					CTCAGCACCACGCCGGTGGCC	0.498																																						ENST00000306151.4																			0				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						c.(6334-6336)aCg>aTg		mucin 17, cell surface associated							208	211	210					7																	100681032		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681032C>T	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.6335C>T	7.37:g.100681032C>T	ENSP00000302716:p.Thr2112Met						p.T2112M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6399	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2112			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6335C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025193	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.942	-1.88	0.07713	.	.	.	.	.	T	0.02304	0.0071	L	0.29908	0.895	0.09310	N	1	B	0.24768	0.111	B	0.04013	0.001	T	0.39542	-0.9609	9	0.48119	T	0.1	.	7.4261	0.27100	0.0:0.7893:0.0:0.2107	.	2112	Q685J3	MUC17_HUMAN	M	2112	ENSP00000302716:T2112M	ENSP00000302716:T2112M	T	+	2	0	MUC17	100467752	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.659000	0.00401	-1.174000	0.02754	-2.053000	0.00404	ACG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		46	298	0	0	0	1	0	46	298					T	100681032	C	T	100681032	3	4	329	1	0	0	0	0	1	0	0	0	9974	536	19	1	6345	1	MUC17	7	100681032	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	4045612	100681032	58457631	22	32570											
EXOC4	60412	broad.mit.edu	37	chr7	133602453	133602453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatggctcaacccaaacaGctgaggccaaaaagagagga	10	9	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:133602453G>A	ENST00000253861.4	+	13	2018	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	EXOC4_ENST00000539845.1_Silent_p.Q562Q|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000460346.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	663					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACCCAAACAGCTGAGGCCAA	0.398																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1987-1989)caG>caA		exocyst complex component 4							104	93	97					7																	133602453		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133602453G>A	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1989G>A	7.37:g.133602453G>A						EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000539845.1_Silent_p.Q562Q	p.Q663Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			13	2018	+		Esophageal squamous(399;0.129)	663					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.1989G>A	CCDS5829.1																																																																																				0.398	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		17	86	0	0	0	1	0	17	86					A	133602453	G	A	133602453	2	1	329	1	0	0	0	0	0	0	0	1	5306	962	34	2		2	EXOC4	7	133602453	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	32921421	133602453	25536210	23	32571											
KIAA1549	57670	broad.mit.edu	37	chr7	138603696	138603696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtgtggaaatgactggCggactcagcatatgccgctg	14	8	1	1	rs202110418	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:138603696C>T	ENST00000422774.1	-	2	724	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A226T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T			Q9HCM3	K1549_HUMAN	KIAA1549	226						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAATGACTGGCGGACTCAGCA	0.498			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(676-678)Gcc>Acc		KIAA1549							134	146	142					7																	138603696		2118	4218	6336	SO:0001583	missense	57670					integral to membrane		g.chr7:138603696C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.676G>A	7.37:g.138603696C>T	ENSP00000416040:p.Ala226Thr					KIAA1549_ENST00000422774.1_Missense_Mutation_p.A226T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T	p.A226T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	724	-			226					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.676G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	0.432	-0.902798	0.02453	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.33438	1.41;1.41;1.41	4.68	-3.0	0.05480	.	1.697110	0.03159	N	0.169103	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12016	-1.0564	10	0.12430	T	0.62	.	2.2517	0.04045	0.3173:0.3638:0.209:0.11	.	226;226	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	226;176;226	ENSP00000406661:A226T;ENSP00000242365:A176T;ENSP00000416040:A226T	ENSP00000242365:A176T	A	-	1	0	KIAA1549	138254236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.203000	0.03019	-0.565000	0.06061	-1.109000	0.02080	GCC		0.498	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			15	119	0	0	0	1	0	15	119					T	138603696	C	T	138603696	3	4	329	1	0	0	0	0	1	0	0	0	8244	768	27	1	5252	1	KIAA1549	7	138603696	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	5001243	138603696	20534967	24	32572											
CSMD3	114788	broad.mit.edu	37	chr8	113353895	113353895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatggtttctgtagaaaaatTtacaaactggagatgtacac	8	5	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:113353895T>A	ENST00000297405.5	-	42	6707	c.6463A>T	c.(6463-6465)Aat>Tat	p.N2155Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2155	CUB 12. {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						GTAGAAAAATTTACAAACTGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(6463-6465)Aat>Tat		CUB and Sushi multiple domains 3							60	58	59					8																	113353895		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353895T>A	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.6463A>T	8.37:g.113353895T>A	ENSP00000297405:p.Asn2155Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y	p.N2155Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			42	6707	-			2155			CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6463A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304362	0.81136	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.66	4.66	0.58398	CUB (5);	0.063541	0.64402	D	0.000011	T	0.40196	0.1107	M	0.68952	2.095	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.30179	-0.9987	10	0.72032	D	0.01	.	14.5452	0.68024	0.0:0.0:0.0:1.0	.	2051;2155;2115	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2115;2155;1425;2051;2085	ENSP00000345799:N2115Y;ENSP00000297405:N2155Y;ENSP00000341558:N1425Y;ENSP00000412263:N2051Y;ENSP00000343124:N2085Y	ENSP00000297405:N2155Y	N	-	1	0	CSMD3	113423071	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.789000	0.85783	2.076000	0.62316	0.533000	0.62120	AAT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	17	0	0	0	1	0	8	17					A	113353895	T	A	113353895	3	1	329	1	0	0	0	0	1	0	0	0	3946	1841	64	5	4780	5	CSMD3	8	113353895	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		113353895	33010127	25	32573											
SPATC1	375686	broad.mit.edu	37	chr8	145094826	145094826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcttcctgcccccGtccccagcagtggcaaacga	10	17	1	0	rs377548022		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					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)			TCCTGCCCCCGTCCCCAGCAG	0.632																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(226-228)ccG>ccA		spermatogenesis and centriole associated 1		G	,	0,4406		0,0,2203	69	75	73		228,228	-4.9	0	8		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATC1	NM_001134374.1,NM_198572.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	76/442,76/592	145094826	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094826G>A	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.228G>A	8.37:g.145094826G>A						SPATC1_ENST00000447830.2_Silent_p.P76P	p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	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)		2	330	+	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)		76			Necessary for targeting centrosomes (By similarity).		B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.228G>A	CCDS6413.2																																																																																				0.632	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		21	73	0	0	0	1	0	21	73					A	145094826	G	A	145094826	2	1	329	1	0	0	0	0	0	0	0	1	15016	1132	40	1		1	SPATC1	8	145094826	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	31740931	145094826	1269196	26	32574											
PRUNE2	158471	broad.mit.edu	37	chr9	79318298	79318298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagctcaaggaactctgtcTcctcctccatttccgtgtca	7	15	4	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:79318298T>C	ENST00000376718.3	-	9	8354	c.8231A>G	c.(8230-8232)gAg>gGg	p.E2744G	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2385G	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2744					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAACTCTGTCTCCTCCTCCAT	0.423																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7153-7155)gAg>gGg		prune homolog 2 (Drosophila)							94	80	85					9																	79318298		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318298T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8231A>G	9.37:g.79318298T>C	ENSP00000365908:p.Glu2744Gly					PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2744G	p.E2385G			Q8WUY3	PRUN2_HUMAN			9	8354	-			2744					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7154A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189855	0.78789	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.54071	0.59;0.6	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000038	T	0.69043	0.3067	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.66084	0.895;0.941	T	0.72773	-0.4192	10	0.87932	D	0	-21.4939	14.3527	0.66713	0.0:0.0:0.0:1.0	.	2744;2744	Q8WUY3-3;Q8WUY3	.;PRUN2_HUMAN	G	2744;2385;2743	ENSP00000365908:E2744G;ENSP00000397425:E2385G	ENSP00000365908:E2744G	E	-	2	0	PRUNE2	78508118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.705000	0.54823	2.136000	0.66102	0.482000	0.46254	GAG		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	35	0	0	0	1	0	3	35					C	79318298	T	C	79318298	3	2	329	1	0	0	0	0	1	0	0	0	12641	1551	54	3	1079	3	PRUNE2	9	79318298	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		79318298	61895133	27	32575											
PITRM1	10531	broad.mit.edu	37	chr10	3189439	3189439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatcctcttcatcagccGcacctaagccagaggaaact	7	14	3	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:3189439G>A	ENST00000224949.4	-	20	2273	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.R748W			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	747					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCATCAGCCGCACCTAAGCC	0.498																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2242-2244)Cgg>Tgg		pitrilysin metallopeptidase 1							100	100	100					10																	3189439		1982	4174	6156	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189439G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2239C>T	10.37:g.3189439G>A	ENSP00000224949:p.Arg747Trp					PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.R747W	p.R748W	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			20	2280	-			649					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2242C>T	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.97|14.97	2.694651|2.694651	0.48202|0.48202	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	.|T;T;T;T	.|0.24350	.|1.86;1.86;1.86;1.86	5.82|5.82	3.47|3.47	0.39725|0.39725	.|Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.234553	.|0.49916	.|D	.|0.000129	T|T	0.38026|0.38026	0.1025|0.1025	L|L	0.47190|0.47190	1.495|1.495	0.31014|0.31014	N|N	0.718868|0.718868	.|B;D;D;D;D	.|0.67145	.|0.439;0.996;0.992;0.992;0.992	.|B;P;P;P;P	.|0.58970	.|0.094;0.849;0.773;0.773;0.849	T|T	0.43940|0.43940	-0.9360|-0.9360	5|10	.|0.72032	.|D	.|0.01	-18.8424|-18.8424	12.8422|12.8422	0.57809|0.57809	0.0:0.0:0.2691:0.7309|0.0:0.0:0.2691:0.7309	.|.	.|740;649;748;747;740	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	V|W	80|747;740;748;305;649	.|ENSP00000224949:R747W;ENSP00000370377:R748W;ENSP00000370382:R305W;ENSP00000401201:R649W	.|ENSP00000224949:R747W	A|R	-|-	2|1	0|2	PITRM1|PITRM1	3179439|3179439	1.000000|1.000000	0.71417|0.71417	0.600000|0.600000	0.28864|0.28864	0.024000|0.024000	0.10985|0.10985	2.906000|2.906000	0.48735|0.48735	0.461000|0.461000	0.27071|0.27071	-0.397000|-0.397000	0.06425|0.06425	GCG|CGG		0.498	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			3	40	0	0	0	1	0	3	40					A	3189439	G	A	3189439	3	1	329	1	0	0	0	0	1	0	0	0	11953	1086	38	1	906	1	PITRM1	10	3189439	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		3189439	132345308	28	32576											
GHITM	27069	broad.mit.edu	37	chr10	85903820	85903820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagcattgtgctactatgGcttgggactgtctaatgaga	13	6	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:85903820G>T	ENST00000372134.3	+	4	492	c.299G>T	c.(298-300)gGc>gTc	p.G100V		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	100					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TGCTACTATGGCTTGGGACTG	0.413																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(298-300)gGc>gTc		growth hormone inducible transmembrane protein							245	248	247					10																	85903820		1999	4158	6157	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85903820G>T	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.299G>T	10.37:g.85903820G>T	ENSP00000361207:p.Gly100Val						p.G100V	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			4	492	+			100					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.299G>T	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423270	0.83559	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406	.	.	.	6.16	5.26	0.73747	.	0.137926	0.64402	D	0.000003	T	0.80433	0.4622	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	P	0.61940	0.896	D	0.84747	0.0754	9	0.87932	D	0	-18.1079	14.5111	0.67787	0.0709:0.0:0.9291:0.0	.	100	Q9H3K2	GHITM_HUMAN	V	100;87;100	.	ENSP00000361207:G100V	G	+	2	0	GHITM	85893800	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.306000	0.96204	1.623000	0.50342	0.650000	0.86243	GGC		0.413	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		17	62	1	0	3.99206e-14	1	4.22348e-14	17	62					T	85903820	G	T	85903820	3	4	329	1	0	0	0	0	1	0	0	0	6370	1203	42	4	309	4	GHITM	10	85903820	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	82714381	85903820	49630927	29	32577											
OR4C6	219432	broad.mit.edu	37	chr11	55433101	55433101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggggggatttatgcaCgcaatgatacaacttctctt	12	7	1	1	rs144378683		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:55433101C>T	ENST00000314259.3	+	1	488	c.459C>T	c.(457-459)caC>caT	p.H153H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H153H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATTTATGCACGCAATGATAC	0.463																																						ENST00000314259.3																			1	Substitution - coding silent(1)	p.H153H(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(457-459)caC>caT		olfactory receptor, family 4, subfamily C, member 6							102	98	99					11																	55433101		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433101C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.459C>T	11.37:g.55433101C>T							p.H153H	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	488	+			153					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.459C>T	CCDS31506.1																																																																																				0.463	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		20	66	0	0	0	1	0	20	66					T	55433101	C	T	55433101	2	4	329	1	0	0	0	0	0	0	0	1	11052	535	19	1		1	OR4C6	11	55433101	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		55433101	79573415	30	32578											
ZDHHC5	25921	broad.mit.edu	37	chr11	57457663	57457663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaactctcaggggtccGcacggctgtcacgtatcctt	12	12	2	1	rs141814126		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:57457663G>A	ENST00000287169.3	+	5	1907	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	182					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						TCAGGGGTCCGCACGGCTGTC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19018	0.0		0.0	False		,,,				2504	0.0					ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(544-546)cGc>cAc		zinc finger, DHHC-type containing 5		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	119	116	117		545	5.1	1	11	dbSNP_134	117	0,8592		0,0,4296	no	missense	ZDHHC5	NM_015457.2	29	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	182/716	57457663	1,12993	2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57457663G>A	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.545G>A	11.37:g.57457663G>A	ENSP00000287169:p.Arg182His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H	p.R182H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			5	1907	+			182					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.545G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766690	0.15983	2.27E-4	0.0	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.08	5.08	0.68730	.	0.441491	0.26474	N	0.024161	T	0.08179	0.0204	N	0.01505	-0.83	0.41900	D	0.990416	B	0.06786	0.001	B	0.04013	0.001	T	0.20907	-1.0261	10	0.02654	T	1	-3.673	11.7145	0.51643	0.0812:0.0:0.9188:0.0	.	182	Q9C0B5	ZDHC5_HUMAN	H	129;182;80;80	ENSP00000432202:R129H;ENSP00000287169:R182H;ENSP00000431209:R80H;ENSP00000435593:R80H	ENSP00000287169:R182H	R	+	2	0	ZDHHC5	57214239	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	2.274000	0.43390	2.634000	0.89283	0.563000	0.77884	CGC		0.517	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		4	91	0	0	0	1	0	4	91					A	57457663	G	A	57457663	3	1	329	1	0	0	0	0	1	0	0	0	17615	1087	38	1	559	1	ZDHHC5	11	57457663	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	2024562	57457663	77548853	31	32579											
PRB4	5545	broad.mit.edu	37	chr12	11461396	11461396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaggagatcgggcacttCgggacttgtttccttcctgt	13	10	0	1	rs374921001		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:11461396C>T	ENST00000535904.1	-	3	554	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.R174Q			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	195	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.R174Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCGGGCACTTCGGGACTTGTT	0.597										HNSCC(22;0.051)																												ENST00000279575.1																			1	Substitution - Missense(1)	p.R174Q(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(520-522)cGa>cAa		proline-rich protein BstNI subfamily 4							181	197	192					12																	11461396		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461396C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.521G>A	12.37:g.11461396C>T	ENSP00000442834:p.Arg174Gln	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.R174Q	p.R174Q	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	554	-			237	Missing (in Ref. 7; CAA30542).	Missing (in allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.521G>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.939463	0.00484	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.03920	3.76;3.76	0.714	-0.257	0.12979	.	.	.	.	.	T	0.01454	0.0047	N	0.01168	-0.975	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.48445	-0.9035	8	0.13108	T	0.6	.	.	.	.	.	174	E9PAL0	.	Q	174	ENSP00000279575:R174Q;ENSP00000442834:R174Q	ENSP00000279575:R174Q	R	-	2	0	PRB4	11352663	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.327000	0.07955	-0.277000	0.09193	-1.126000	0.01995	CGA		0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		73	232	0	0	0	1	0	73	232					T	11461396	C	T	11461396	3	4	329	1	0	0	0	0	1	0	0	0	12445	884	31	1	226	1	PRB4	12	11461396	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		11461396	122390499	32	32580											
SLC2A13	114134	broad.mit.edu	37	chr12	40345131	40345131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattaaagctcggcgagttGggggataactcagcattctg	12	8	2	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:40345131G>A	ENST00000280871.4	-	4	1012	c.962C>T	c.(961-963)cCa>cTa	p.P321L	SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCGGCGAGTTGGGGGATAACT	0.373										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(961-963)cCa>cTa		solute carrier family 2 (facilitated glucose transporter), member 13							81	81	81					12																	40345131		2203	4300	6503	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40345131G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"Solute carriers"	15956	protein-coding gene	gene with protein product	"H(+)-myo-inositol symporter"	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.962C>T	12.37:g.40345131G>A	ENSP00000280871:p.Pro321Leu	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L	p.P321L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			4	1012	-		Lung NSC(34;0.105)|all_lung(34;0.123)	321					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.962C>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158915	0.78226	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58358	0.34;0.34	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051545	0.85682	D	0.000000	T	0.53981	0.1830	L	0.58428	1.81	0.80722	D	1	P;P	0.47253	0.489;0.892	P;P	0.45232	0.474;0.474	T	0.49041	-0.8980	10	0.13853	T	0.58	-13.595	18.9337	0.92577	0.0:0.0:1.0:0.0	.	321;321	Q96QE2;E9PE47	MYCT_HUMAN;.	L	321	ENSP00000280871:P321L;ENSP00000370239:P321L	ENSP00000280871:P321L	P	-	2	0	SLC2A13	38631398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.706000	0.92434	0.555000	0.69702	CCA		0.373	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			6	45	0	0	0	1	0	6	45					A	40345131	G	A	40345131	3	1	329	1	0	0	0	0	1	0	0	0	14542	1348	47	2	1012	2	SLC2A13	12	40345131	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	28883735	40345131	93506764	33	32581											
LRP1	4035	broad.mit.edu	37	chr12	57556127	57556127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggtcctgagctgaacCacgcctttggcctgtgtcac	11	12	1	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:57556127C>T	ENST00000243077.3	+	14	2696	c.2230C>T	c.(2230-2232)Cac>Tac	p.H744Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	744					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGCTGAACCACGCCTTTGG	0.527																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2230-2232)Cac>Tac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						222	182	196					12																	57556127		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556127C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2230C>T	12.37:g.57556127C>T	ENSP00000243077:p.His744Tyr						p.H744Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2696	+			744					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2230C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093071	0.56075	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.63	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.92766	0.7700	L	0.56769	1.78	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.92044	0.5643	10	0.46703	T	0.11	.	11.6169	0.51094	0.0:0.9118:0.0:0.0882	.	744	Q07954	LRP1_HUMAN	Y	744	ENSP00000243077:H744Y	ENSP00000243077:H744Y	H	+	1	0	LRP1	55842394	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.453000	0.80700	1.309000	0.44985	0.462000	0.41574	CAC		0.527	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		26	100	0	0	0	1	0	26	100					T	57556127	C	T	57556127	3	4	329	1	0	0	0	0	1	0	0	0	8951	594	21	2	2284	2	LRP1	12	57556127	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	17210996	57556127	76295768	34	32582											
NTN4	59277	broad.mit.edu	37	chr12	96180767	96180767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatttagaagtacaaatagCgcccttcttgacaacatcat	6	9	2	2	rs142996736		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:96180767C>T	ENST00000343702.4	-	2	983	c.535G>A	c.(535-537)Gct>Act	p.A179T	NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000538383.1_Missense_Mutation_p.A142T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	179	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTACAAATAGCGCCCTTCTTG	0.438																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(535-537)Gct>Act		netrin 4							101	95	97					12																	96180767		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180767C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.535G>A	12.37:g.96180767C>T	ENSP00000340998:p.Ala179Thr					NTN4_ENST00000538383.1_Missense_Mutation_p.A142T|NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T	p.A179T	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			2	983	-			179			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.535G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628102	0.66901	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.84	4.93	0.64822	Laminin, N-terminal (3);	0.185246	0.47093	D	0.000255	D	0.82273	0.5001	L	0.60067	1.865	0.45342	D	0.998337	D;D	0.56968	0.965;0.978	B;P	0.54238	0.441;0.746	T	0.83031	-0.0162	10	0.52906	T	0.07	.	16.4073	0.83684	0.1319:0.8681:0.0:0.0	.	179;179	Q9HB63-2;Q9HB63	.;NET4_HUMAN	T	179;142;142;179;142	ENSP00000340998:A179T;ENSP00000339436:A142T;ENSP00000444432:A142T;ENSP00000447292:A179T;ENSP00000447594:A142T	ENSP00000340998:A179T	A	-	1	0	NTN4	94704898	1.000000	0.71417	0.995000	0.50966	0.545000	0.35147	2.758000	0.47565	2.767000	0.95098	0.555000	0.69702	GCT		0.438	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		12	66	0	0	0	1	0	12	66					T	96180767	C	T	96180767	3	4	329	1	0	0	0	0	1	0	0	0	10702	768	27	1	1387	1	NTN4	12	96180767	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	38624640	96180767	37671128	35	32583											
SIAH3	283514	broad.mit.edu	37	chr13	46357873	46357873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatccaatcagccggcGcggggaggtgcatgtccgtg	16	10	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr13:46357873G>A	ENST00000400405.2	-	2	561	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATCAGCCGGCGCGGGGAGGTG	0.617																																						ENST00000400405.2																			0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(454-456)gCg>gTg		siah E3 ubiquitin protein ligase family member 3							48	55	52					13																	46357873		2082	4210	6292	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357873G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.455C>T	13.37:g.46357873G>A	ENSP00000383256:p.Ala152Val						p.A152V	NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN			2	561	-			152					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.455C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366626	0.82463	.	.	ENSG00000215475	ENST00000400405	T	0.25085	1.82	5.19	5.19	0.71726	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.294360	0.30949	U	0.008548	T	0.43853	0.1266	L	0.44542	1.39	0.45066	D	0.998082	D	0.89917	1.0	D	0.70227	0.968	T	0.19745	-1.0296	10	0.45353	T	0.12	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	152	Q8IW03	SIAH3_HUMAN	V	152	ENSP00000383256:A152V	ENSP00000383256:A152V	A	-	2	0	SIAH3	45255874	1.000000	0.71417	0.748000	0.31131	0.993000	0.82548	4.836000	0.62789	2.431000	0.82371	0.561000	0.74099	GCG		0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		13	26	0	0	0	1	0	13	26					A	46357873	G	A	46357873	3	1	329	1	0	0	0	0	1	0	0	0	14301	1087	38	1	358	1	SIAH3	13	46357873	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		46357873	68812005	36	32584											
OR10G2	26534	broad.mit.edu	37	chr14	22102278	22102278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggtggagaaggcccGgcgcctcccatcagcggtgc	15	15	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:22102278G>A	ENST00000542433.1	-	1	818	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241						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(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGAAGGCCCGGCGCCTCCCA	0.552																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(721-723)Cgg>Tgg		olfactory receptor, family 10, subfamily G, member 2							32	34	33					14																	22102278		2197	4280	6477	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102278G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.721C>T	14.37:g.22102278G>A	ENSP00000445383:p.Arg241Trp						p.R241W	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	818	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	241					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.721C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596325	0.28445	.	.	ENSG00000255582	ENST00000542433	T	0.00198	8.57	3.92	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.475126	0.15243	N	0.272783	T	0.00524	0.0017	M	0.86805	2.84	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.38415	-0.9662	10	0.87932	D	0	-5.4019	8.7989	0.34896	0.0:0.0:0.4378:0.5622	.	241	Q8NGC3	O10G2_HUMAN	W	241	ENSP00000445383:R241W	ENSP00000445383:R241W	R	-	1	2	OR10G2	21172118	0.067000	0.21026	0.798000	0.32154	0.349000	0.29174	1.046000	0.30354	0.818000	0.34468	0.557000	0.71058	CGG		0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			4	32	0	0	0	1	0	4	32					A	22102278	G	A	22102278	3	1	329	1	0	0	0	0	1	0	0	0	10899	1115	39	1	214	1	OR10G2	14	22102278	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		22102278	85247262	37	32585											
JAG2	3714	broad.mit.edu	37	chr14	105622205	105622205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgctgtagtagttctcGtcgcagcgcacgcggatctg	15	11	2	0	rs372506434		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:105622205G>A	ENST00000331782.3	-	4	1000	c.597C>T	c.(595-597)gaC>gaT	p.D199D	JAG2_ENST00000347004.2_Silent_p.D199D|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	199	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				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)		AGTAGTTCTCGTCGCAGCGCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(595-597)gaC>gaT		jagged 2							77	54	62					14																	105622205		2197	4298	6495	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622205G>A	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.597C>T	14.37:g.105622205G>A						RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D199D	p.D199D	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	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)	4	1000	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	199			DSL.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.597C>T	CCDS9998.1																																																																																				0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			4	18	0	0	0	1	0	4	18					A	105622205	G	A	105622205	2	1	329	1	0	0	0	0	0	0	0	1	7935	1136	40	1		1	JAG2	14	105622205	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	83519927	105622205	1727335	38	32586											
ZNRF1	84937	broad.mit.edu	37	chr16	75127493	75127493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgccccatttgctccAagtctgtggcttctgacgag	10	12	3	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75127493A>G	ENST00000335325.4	+	2	1090	c.448A>G	c.(448-450)Aag>Gag	p.K150E	ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	150					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						CATTTGCTCCAAGTCTGTGGC	0.483																																						ENST00000335325.4																			0				breast(1)	1						c.(448-450)Aag>Gag		zinc and ring finger 1, E3 ubiquitin protein ligase							175	148	157					16																	75127493		2198	4300	6498	SO:0001583	missense	84937					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding	g.chr16:75127493A>G	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"RING-type (C3HC4) zinc fingers"	18452	protein-coding gene	gene with protein product		612060	"zinc and ring finger 1"				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.448A>G	16.37:g.75127493A>G	ENSP00000335091:p.Lys150Glu					ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E	p.K150E	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN			2	1090	+			150					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.448A>G	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	A	33	5.199289	0.94997	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.50277	0.75	5.9	5.9	0.94986	.	0.049358	0.85682	D	0.000000	T	0.68760	0.3036	M	0.70595	2.14	0.80722	D	1	B;D;B	0.89917	0.062;1.0;0.01	B;D;B	0.85130	0.031;0.997;0.014	T	0.71510	-0.4571	10	0.66056	D	0.02	-12.5331	16.3275	0.82990	1.0:0.0:0.0:0.0	.	150;150;150	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	E	150	ENSP00000335091:K150E	ENSP00000323362:K150E	K	+	1	0	ZNRF1	73684994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.847000	0.92166	2.266000	0.75297	0.528000	0.53228	AAG		0.483	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			21	60	0	0	0	1	0	21	60					G	75127493	A	G	75127493	3	3	329	1	0	0	0	0	1	0	0	0	18208	131	5	3	454	3	ZNRF1	16	75127493	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08		75127493	15227260	39	32587											
BCAR1	9564	broad.mit.edu	37	chr16	75271148	75271148	+	Frame_Shift_Del	DEL	G	G	-													catagatgtcctgtggccccGgggccagcaggtgtcgcggg					rs578020858		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75271148delG	ENST00000162330.5	-	3	854	c.728delC	c.(727-729)ccgfs	p.P243fs	BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000546196.1_Frame_Shift_Del_p.P214fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	243	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTGGCCCCGGGGCCAGCAG	0.697																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(640-642)cgfs		breast cancer anti-estrogen resistance 1							19	20	20					16																	75271148		2168	4266	6434	SO:0001589	frameshift_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75271148delG	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.728delC	16.37:g.75271148delG	ENSP00000162330:p.Pro243fs					BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P243fs	p.P214fs			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	3	2293	-			243			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Frame_Shift_Del	DEL	ENST00000162330.5	37	c.641delC	CCDS10915.1																																																																																				0.697	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		2	4						2	4	---	---	---	---	-	75271148	G	-	75271148	7	5	329	1	0	1	0	1	0	0	0	0	1348	1116	39	0	1958	0	BCAR1	16	75271148	Frame_Shift_Del	DEL	G	TCGA-HT-A74H-01A-11D-A32B-08	143655	75271148	15083605	40	32588											
MYOCD	93649	broad.mit.edu	37	chr17	12666860	12666860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccacaccaggctttagcGccctcaccaccagcagcccc	6	20	1	0	rs370289662		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:12666860G>A	ENST00000343344.4	+	13	2716	c.2716G>A	c.(2716-2718)Gcc>Acc	p.A906T	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.A954T			Q8IZQ8	MYCD_HUMAN	myocardin	906					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A906T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGCTTTAGCGCCCTCACCAC	0.517																																						ENST00000425538.1																			1	Substitution - Missense(1)	p.A906T(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(2860-2862)Gcc>Acc		myocardin		G	THR/ALA,THR/ALA	0,4406		0,0,2203	62	56	58		2716,2860	2.6	0.5	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOCD	NM_153604.2,NM_001146312.1	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	906/939,954/987	12666860	1,13005	2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666860G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2716G>A	17.37:g.12666860G>A	ENSP00000341835:p.Ala906Thr					MYOCD_ENST00000343344.4_Missense_Mutation_p.A906T|RP11-1090M7.1_ENST00000584772.1_RNA	p.A954T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	14	3060	+			906					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2860G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486760	0.12641	0.0	1.16E-4	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.43688	0.94;0.95	6.08	2.59	0.31030	.	0.687575	0.15464	N	0.260979	T	0.20455	0.0492	N	0.08118	0	0.23076	N	0.998331	B;B;B	0.29341	0.242;0.194;0.003	B;B;B	0.20767	0.008;0.031;0.004	T	0.12682	-1.0538	10	0.56958	D	0.05	-13.4936	7.6075	0.28110	0.2468:0.0:0.1263:0.6269	.	630;954;906	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	T	630;954;906;616	ENSP00000341835:A906T;ENSP00000400148:A616T	ENSP00000341835:A906T	A	+	1	0	MYOCD	12607585	0.944000	0.32072	0.460000	0.27093	0.011000	0.07611	1.111000	0.31159	0.160000	0.19432	-1.061000	0.02294	GCC		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	41	0	0	0	1	0	11	41					A	12666860	G	A	12666860	3	1	329	1	0	0	0	0	1	0	0	0	10087	1087	38	1	2926	1	MYOCD	17	12666860	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		12666860	68528350	41	32589											
SLC13A2	9058	broad.mit.edu	37	chr17	26816242	26816242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgcaggaggcctactGcgcgtatgccatcatcctca	9	16	2	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:26816242G>A	ENST00000314669.5	+	2	533	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000444914.3_Missense_Mutation_p.C38Y|SLC13A2_ENST00000537681.1_5'UTR	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	38					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)			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)	GAGGCCTACTGCGCGTATGCC	0.602																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(112-114)tGc>tAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						117	89	98					17																	26816242		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26816242G>A	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.113G>A	17.37:g.26816242G>A	ENSP00000316202:p.Cys38Tyr					SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Missense_Mutation_p.C38Y	p.C38Y	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	533	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		38					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.113G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692732	0.68271	.	.	ENSG00000007216	ENST00000314669;ENST00000444914	T;T	0.02709	4.19;4.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.00161	-1.1972	10	0.87932	D	0	.	19.9921	0.97370	0.0:0.0:1.0:0.0	.	38;38	E7ETH5;Q13183	.;S13A2_HUMAN	Y	38	ENSP00000316202:C38Y;ENSP00000392411:C38Y	ENSP00000316202:C38Y	C	+	2	0	SLC13A2	23840369	1.000000	0.71417	0.956000	0.39512	0.146000	0.21551	9.637000	0.98443	2.740000	0.93945	0.558000	0.71614	TGC		0.602	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		12	37	0	0	0	1	0	12	37					A	26816242	G	A	26816242	3	1	329	1	0	0	0	0	1	0	0	0	14392	1319	46	2	119	2	SLC13A2	17	26816242	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	14149382	26816242	54378968	42	32590											
SLFN13	146857	broad.mit.edu	37	chr17	33767661	33767661	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggaagccagacagaTcagaatattgggtaagatag	12	7	1	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:33767661T>A	ENST00000285013.6	-	6	2922	c.2647A>T	c.(2647-2649)Atc>Ttc	p.I883F	SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	883						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGACAGATCAGAATATTG	0.448																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2647-2649)Atc>Ttc		schlafen family member 13							158	147	151					17																	33767661		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33767661T>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2647A>T	17.37:g.33767661T>A	ENSP00000285013:p.Ile883Phe					SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F	p.I883F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2922	-			883					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2647A>T	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	t	13.73	2.324200	0.41197	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.27	-6.53	0.01866	.	1.546300	0.04149	N	0.321022	T	0.68751	0.3035	L	0.47716	1.5	0.09310	N	1	B;B	0.33694	0.007;0.421	B;B	0.24541	0.004;0.054	T	0.60732	-0.7205	10	0.87932	D	0	.	6.6224	0.22810	0.1213:0.1521:0.6205:0.1062	.	565;883	Q68D06-2;Q68D06	.;SLN13_HUMAN	F	883;565;883;883;565	ENSP00000285013:I883F;ENSP00000353692:I565F;ENSP00000434439:I883F;ENSP00000444016:I883F;ENSP00000435442:I565F	ENSP00000285013:I883F	I	-	1	0	SLFN13	30791774	0.000000	0.05858	0.001000	0.08648	0.694000	0.40290	-1.355000	0.02612	-1.734000	0.01355	-0.534000	0.04291	ATC		0.448	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		24	110	0	0	0	1	0	24	110					A	33767661	T	A	33767661	3	1	329	1	0	0	0	0	1	0	0	0	14736	1435	50	5	50	5	SLFN13	17	33767661	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	6951419	33767661	47427549	43	32591											
KRT27	342574	broad.mit.edu	37	chr17	38933308	38933308	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggatttctcttccacAgtgtgaactctggatgagag	12	7	2	2	rs560769064		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:38933308A>C	ENST00000301656.3	-	8	1363	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTCTTCCACAGTGTGAACTC	0.413																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1321-1323)acT>acG		keratin 27							117	120	119					17																	38933308		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933308A>C	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1323T>G	17.37:g.38933308A>C						KRT27_ENST00000540723.1_5'UTR	p.T441T	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			8	1363	-		Breast(137;0.000812)	441			Tail.			Silent	SNP	ENST00000301656.3	37	c.1323T>G	CCDS11375.1																																																																																				0.413	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		21	61	0	0	0	1	0	21	61					C	38933308	A	C	38933308	2	2	329	1	0	0	0	0	0	0	0	1	8464	175	7	5		5	KRT27	17	38933308	Silent	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08	5165647	38933308	42261902	44	32592											
G6PC	2538	broad.mit.edu	37	chr17	41063169	41063169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcaagaacctgggcaCgctctttggcctggggctgg	13	14	2	1	rs145296477	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:41063169C>T	ENST00000253801.2	+	5	879	c.800C>T	c.(799-801)aCg>aTg	p.T267M	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	267					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCTGGGCACGCTCTTTGGC	0.582																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(799-801)aCg>aTg		glucose-6-phosphatase, catalytic subunit		C	MET/THR	0,4406		0,0,2203	83	74	77		800	5	1	17	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	missense	G6PC	NM_000151.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	267/358	41063169	2,13004	2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063169C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.800C>T	17.37:g.41063169C>T	ENSP00000253801:p.Thr267Met					G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	p.T267M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	879	+		Breast(137;0.000143)	267					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.800C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034960	0.54896	0.0	2.33E-4	ENSG00000131482	ENST00000253801	T	0.77489	-1.1	4.96	4.96	0.65561	.	0.053193	0.64402	D	0.000001	T	0.70902	0.3277	L	0.58810	1.83	0.80722	D	1	D	0.60160	0.987	B	0.42692	0.395	T	0.73613	-0.3927	10	0.56958	D	0.05	.	5.9023	0.18974	0.0:0.7749:0.0:0.2251	.	267	P35575	G6PC_HUMAN	M	267	ENSP00000253801:T267M	ENSP00000253801:T267M	T	+	2	0	G6PC	38316695	0.983000	0.35010	0.971000	0.41717	0.623000	0.37688	4.278000	0.58946	2.569000	0.86673	0.557000	0.71058	ACG		0.582	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		6	34	0	0	0	1	0	6	34					T	41063169	C	T	41063169	3	4	329	1	0	0	0	0	1	0	0	0	6143	536	19	1	818	1	G6PC	17	41063169	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	2129861	41063169	40132041	45	32593											
ERN1	2081	broad.mit.edu	37	chr17	62131666	62131666	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactggaattgccggtcctTctccgtgcagaagtagcgga	13	10	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:62131666T>G	ENST00000433197.3	-	15	1992	c.1897A>C	c.(1897-1899)Aag>Cag	p.K633Q		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCCGGTCCTTCTCCGTGCAG	0.488																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1897-1899)Aag>Cag		endoplasmic reticulum to nucleus signaling 1							57	57	57					17																	62131666		2036	4210	6246	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62131666T>G	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1897A>C	17.37:g.62131666T>G	ENSP00000401445:p.Lys633Gln						p.K633Q	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			15	1992	-			633			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.1897A>C	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227043	0.22542	.	.	ENSG00000178607	ENST00000433197	T	0.65364	-0.15	5.49	-2.17	0.07059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.286532	0.43416	D	0.000576	T	0.35307	0.0927	N	0.10916	0.065	0.33810	D	0.627759	B	0.02656	0.0	B	0.01281	0.0	T	0.47433	-0.9118	10	0.02654	T	1	-10.169	16.6684	0.85259	0.0:0.0:0.5305:0.4695	.	633	O75460	ERN1_HUMAN	Q	633	ENSP00000401445:K633Q	ENSP00000401445:K633Q	K	-	1	0	ERN1	59485398	0.052000	0.20516	0.726000	0.30738	0.362000	0.29581	-0.045000	0.12003	-0.234000	0.09782	-0.313000	0.08912	AAG		0.488	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		5	16	0	0	0	1	0	5	16					G	62131666	T	G	62131666	3	3	329	1	0	0	0	0	1	0	0	0	5237	1792	62	5	1068	5	ERN1	17	62131666	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	21068497	62131666	19063544	46	32594											
BAIAP2	10458	broad.mit.edu	37	chr17	79059507	79059507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcagaaggtggagctGgactccaggtatctgagtgt	16	7	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:79059507G>A	ENST00000321300.6	+	5	426	c.333G>A	c.(331-333)ctG>ctA	p.L111L	BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000575245.1_Silent_p.L144L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	111	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGTGGAGCTGGACTCCAGGT	0.587																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(331-333)ctG>ctA		BAI1-associated protein 2							87	76	80					17																	79059507		2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79059507G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.333G>A	17.37:g.79059507G>A						BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L|BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000575245.1_Silent_p.L144L	p.L111L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	426	+	all_neural(118;0.101)		111			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.333G>A	CCDS11775.1																																																																																				0.587	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			17	43	0	0	0	1	0	17	43					A	79059507	G	A	79059507	2	1	329	1	0	0	0	0	0	0	0	1	1301	1335	47	2		2	BAIAP2	17	79059507	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	16927841	79059507	2135703	47	32595											
MC5R	4161	broad.mit.edu	37	chr18	13826283	13826283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctttctgcacgggctgCggcattgtcttcatcctgta	12	11	3	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13826283C>T	ENST00000324750.3	+	1	741	c.519C>T	c.(517-519)tgC>tgT	p.C173C	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	173					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCACGGGCTGCGGCATTGTCT	0.567																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(517-519)tgC>tgT		melanocortin 5 receptor							375	329	344					18																	13826283		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826283C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.519C>T	18.37:g.13826283C>T							p.C173C	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	741	+			173					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.519C>T	CCDS11868.1																																																																																				0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		102	373	0	0	0	1	0	102	373					T	13826283	C	T	13826283	2	4	329	1	0	0	0	0	0	0	0	1	9367	776	27	1		1	MC5R	18	13826283	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		13826283	64250965	48	32596											
MC2R	4158	broad.mit.edu	37	chr18	13884771	13884771	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatgtagcaggcgcagtaGgggttacttgggcagaatgt	16	6	0	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13884771G>T	ENST00000327606.3	-	2	927	c.747C>A	c.(745-747)ccC>ccA	p.P249P		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	249					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGCGCAGTAGGGGTTACTTG	0.542																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(745-747)ccC>ccA		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						87	79	82					18																	13884771		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884771G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.747C>A	18.37:g.13884771G>T							p.P249P	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	927	-			249					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.747C>A	CCDS11869.1																																																																																				0.542	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			8	37	1	0	7.48243e-07	1	7.8031e-07	8	37					T	13884771	G	T	13884771	2	4	329	1	0	0	0	0	0	0	0	1	9364	987	35	4		4	MC2R	18	13884771	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	58488	13884771	64192477	49	32597											
MUC16	94025	broad.mit.edu	37	chr19	9075892	9075892	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagctgtctgcccttgtcTctgaaaagttgcatctggag	11	9	3	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:9075892T>G	ENST00000397910.4	-	3	11757	c.11554A>C	c.(11554-11556)Aga>Cga	p.R3852R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	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						TGCCCTTGTCTCTGAAAAGTT	0.493																																						ENST00000397910.4																			0				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						c.(11554-11556)Aga>Cga		mucin 16, cell surface associated							167	148	154					19																	9075892		2027	4188	6215	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075892T>G	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.11554A>C	19.37:g.9075892T>G							p.R3852R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11757	-			3853			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.11554A>C	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	55	0	0	0	1	0	4	55					G	9075892	T	G	9075892	2	3	329	1	0	0	0	0	0	0	0	1	9973	1559	54	5		5	MUC16	19	9075892	Silent	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		9075892	50053091	50	32598											
PDE4C	5143	broad.mit.edu	37	chr19	18337154	18337154	+	Intron	DEL	G	G	-													aaaagcttcctgaagagcccGggggagccgcgcggggatcc							TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:18337154delG	ENST00000355502.3	-	6	1114				PDE4C_ENST00000262805.12_Frame_Shift_Del_p.P24fs|PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000447275.3_5'Flank|PDE4C_ENST00000594617.3_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						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)	TGAAGAGCCCGGGGGAGCCGC	0.741																																						ENST00000262805.11																			0				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						c.(70-72)ccfs		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						3	4	4					19																	18337154		1564	3595	5159	SO:0001627	intron_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18337154delG		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.243-4021C>-	19.37:g.18337154delG						PDE4C_ENST00000594465.2_Intron|PDE4C_ENST00000594617.2_Intron|PDE4C_ENST00000355502.3_Intron	p.P24fs	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN			1	131	-			433					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Frame_Shift_Del	DEL	ENST00000355502.3	37	c.72delC	CCDS12373.1																																																																																				0.741	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			2	4						2	4	---	---	---	---	-	18337154	G	-	18337154	6	5	329	0	1	1	0	1	0	0	0	0	11641	1103	39	0		0	PDE4C	19	18337154	Intron	DEL	G	TCGA-HT-A74H-01A-11D-A32B-08	9261262	18337154	40791829	51	32599											
FBL	2091	broad.mit.edu	37	chr19	40331409	40331409	+	Frame_Shift_Del	DEL	C	C	-													cccctcggccgccaaagccaCccccacggggactgaatcct							TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40331409delC	ENST00000221801.3	-	2	142	c.29delG	c.(28-30)ggtfs	p.G11fs	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	11	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCCAAAGCCACCCCCACGGGG	0.607																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(28-30)gtfs		fibrillarin							13	16	15					19																	40331409		2181	4262	6443	SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331409delC	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.29delG	19.37:g.40331409delC	ENSP00000221801:p.Gly11fs						p.G11fs	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	2	142	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	11			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Del	DEL	ENST00000221801.3	37	c.29delG	CCDS12545.1																																																																																				0.607	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		2	4						2	4	---	---	---	---	-	40331409	C	-	40331409	7	5	329	1	0	1	0	1	0	0	0	0	5696	507	18	0	968	0	FBL	19	40331409	Frame_Shift_Del	DEL	C	TCGA-HT-A74H-01A-11D-A32B-08	21994255	40331409	18797574	52	32600											
PRX	57716	broad.mit.edu	37	chr19	40900052	40900052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtgacttctctctgaCgggggacttgggggctgcat	16	9	2	2	rs139051512		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40900052C>T	ENST00000324001.7	-	7	4477	c.4207G>A	c.(4207-4209)Gtc>Atc	p.V1403I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1403					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1403I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCTCTCTGACGGGGGACTTG	0.692																																						ENST00000324001.7																			1	Substitution - Missense(1)	p.V1403I(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4207-4209)Gtc>Atc		periaxin		C	,ILE/VAL	0,4406		0,0,2203	62	72	68		,4207	-1.9	0	19	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,benign	,1403/1462	40900052	3,13003	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900052C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4207G>A	19.37:g.40900052C>T	ENSP00000326018:p.Val1403Ile					PRX_ENST00000291825.7_3'UTR	p.V1403I	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4477	-			1403					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.4207G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.834413	0.00579	0.0	3.49E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01947	4.54	4.06	-1.88	0.07713	.	1.167580	0.06300	N	0.700823	T	0.01523	0.0049	N	0.14661	0.345	0.21499	N	0.999665	P	0.37176	0.586	B	0.30401	0.115	T	0.48833	-0.9000	10	0.51188	T	0.08	-1.0123	7.527	0.27660	0.0:0.5026:0.0:0.4974	.	1403	Q9BXM0	PRAX_HUMAN	I	1403;1338	ENSP00000326018:V1403I	ENSP00000326018:V1403I	V	-	1	0	PRX	45591892	0.000000	0.05858	0.023000	0.16930	0.078000	0.17371	-2.332000	0.01109	-0.182000	0.10602	-0.140000	0.14226	GTC		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		14	74	0	0	0	1	0	14	74					T	40900052	C	T	40900052	3	4	329	1	0	0	0	0	1	0	0	0	12642	536	19	1	182	1	PRX	19	40900052	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	568643	40900052	18228931	53	32601											
NLRP7	199713	broad.mit.edu	37	chr19	55451248	55451248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacgtagatcggctgctgCgccaggagctggaggtccct	14	12	0	1	rs534903397		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:55451248C>T	ENST00000590030.1	-	3	979	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NLRP7_ENST00000446217.1_Silent_p.A341A|NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000588756.1_Silent_p.A313A|NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	313	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCGGCTGCTGCGCCAGGAGCT	0.622																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(937-939)gcG>gcA		NLR family, pyrin domain containing 7							37	37	37					19																	55451248		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451248C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.939G>A	19.37:g.55451248C>T						NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000590030.1_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A|NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000446217.1_Silent_p.A341A	p.A313A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1425	-			313			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.939G>A	CCDS33109.1																																																																																				0.622	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	28	0	0	0	1	0	6	28					T	55451248	C	T	55451248	2	4	329	1	0	0	0	0	0	0	0	1	10482	755	27	1		1	NLRP7	19	55451248	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	14551196	55451248	3677735	54	32602											
NLRP11	204801	broad.mit.edu	37	chr19	56307589	56307589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgatttcttcacattcGctggctcgcaaatcacattt	8	11	3	0	rs116391886	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:56307589G>A	ENST00000589093.1	-	6	2292	c.2199C>T	c.(2197-2199)agC>agT	p.S733S	NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000592953.1_Silent_p.S634S|NLRP11_ENST00000589824.2_Silent_p.S679S|NLRP11_ENST00000443188.1_Silent_p.S733S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	733							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)		CTTCACATTCGCTGGCTCGCA	0.443																																						ENST00000443188.1																			0				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						c.(2197-2199)agC>agT		NLR family, pyrin domain containing 11							99	92	94					19																	56307589		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56307589G>A	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.2199C>T	19.37:g.56307589G>A						NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000589093.1_Silent_p.S733S|NLRP11_ENST00000592953.1_Silent_p.S634S|NLRP11_ENST00000589824.2_Silent_p.S679S	p.S733S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2909	-		Colorectal(82;0.0002)	733					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.2199C>T	CCDS12935.1																																																																																				0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		12	52	0	0	0	1	0	12	52					A	56307589	G	A	56307589	2	1	329	1	0	0	0	0	0	0	0	1	10473	1078	38	1		1	NLRP11	19	56307589	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	856341	56307589	2821394	55	32603											
ZNF460	10794	broad.mit.edu	37	chr19	57802451	57802451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtttaatgagaattGcttccttgttcagcatgagc	10	6	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:57802451G>T	ENST00000360338.3	+	3	864	c.542G>T	c.(541-543)tGc>tTc	p.C181F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	181					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)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGAATTGCTTCCTTGTT	0.433																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(541-543)tGc>tTc		zinc finger protein 460							97	96	96					19																	57802451		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802451G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.542G>T	19.37:g.57802451G>T	ENSP00000353491:p.Cys181Phe					ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F	p.C181F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	864	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	181					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.542G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412947	0.01145	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.14516	2.5;2.5	1.68	0.613	0.17597	.	.	.	.	.	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37753	-0.9692	9	0.33141	T	0.24	.	3.123	0.06397	0.1847:0.2847:0.5306:0.0	.	181	Q14592	ZN460_HUMAN	F	140;181	ENSP00000446167:C140F;ENSP00000353491:C181F	ENSP00000353491:C181F	C	+	2	0	ZNF460	62494263	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	-0.241000	0.08940	0.258000	0.21686	-0.143000	0.13931	TGC		0.433	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		17	76	1	0	3.45872e-05	1	3.50676e-05	17	76					T	57802451	G	T	57802451	3	4	329	1	0	0	0	0	1	0	0	0	17921	1319	46	4	552	4	ZNF460	19	57802451	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	1494862	57802451	1326532	56	32604											
HSF2BP	11077	broad.mit.edu	37	chr21	44949704	44949704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtttgcaggcgggggttgCggctcttggacattgccagg	18	9	1	0	rs140530326		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr21:44949704C>T	ENST00000291560.2	-	9	1266	c.935G>A	c.(934-936)cGc>cAc	p.R312H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	312					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)		GCGGGGGTTGCGGCTCTTGGA	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15109	0.0		0.0	False		,,,				2504	0.0					ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(934-936)cGc>cAc		heat shock transcription factor 2 binding protein		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	63	62		935	4.5	1	21	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HSF2BP	NM_007031.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	312/335	44949704	2,13004	2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:44949704C>T	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.935G>A	21.37:g.44949704C>T	ENSP00000291560:p.Arg312His					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	p.R312H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	9	1266	-			312					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.935G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520117	0.64747	2.27E-4	1.16E-4	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.68479	-0.33;0.78	5.57	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.373904	0.31082	N	0.008287	T	0.73273	0.3566	L	0.54323	1.7	0.46823	D	0.999216	D	0.67145	0.996	P	0.56916	0.809	T	0.74657	-0.3592	10	0.51188	T	0.08	-5.0295	15.031	0.71708	0.0:0.9185:0.0:0.0815	.	312	O75031	HSF2B_HUMAN	H	312;237	ENSP00000291560:R312H;ENSP00000443367:R237H	ENSP00000291560:R312H	R	-	2	0	HSF2BP	43774132	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	2.631000	0.46502	2.633000	0.89246	0.563000	0.77884	CGC		0.592	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		28	58	0	0	0	1	0	28	58					T	44949704	C	T	44949704	3	4	329	1	0	0	0	0	1	0	0	0	7397	768	27	1	73	1	HSF2BP	21	44949704	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		44949704	3180191	57	32605											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31845480	31845480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaggccactcagaagattgGaagaagcaggtctctgaact	11	8	2	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:31845480G>A	ENST00000397525.1	-	12	1845	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGG	0.478																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1621-1623)tCc>tTc		eukaryotic translation initiation factor 4E nuclear import factor 1							96	98	97					22																	31845480		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31845480G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1622C>T	22.37:g.31845480G>A	ENSP00000380659:p.Ser541Phe					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F	p.S541F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			12	1845	-			541					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1622C>T	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254899	0.80135	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.8	5.8	0.92144	.	0.171581	0.53938	D	0.000056	T	0.75700	0.3885	L	0.59436	1.845	0.52501	D	0.999955	D;D;D;D	0.76494	0.999;0.999;0.999;0.997	D;D;D;D	0.87578	0.998;0.998;0.965;0.995	T	0.68247	-0.5459	9	0.17369	T	0.5	-12.5451	19.0483	0.93030	0.0:0.0:1.0:0.0	.	366;541;366;517	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	F	366;541;541;517;196	.	ENSP00000328103:S541F	S	-	2	0	EIF4ENIF1	30175480	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.352000	0.79404	2.747000	0.94245	0.460000	0.39030	TCC		0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		9	73	0	0	0	1	0	9	73					A	31845480	G	A	31845480	3	1	329	1	0	0	0	0	1	0	0	0	5035	1174	41	2	1370	2	EIF4ENIF1	22	31845480	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		31845480	19459086	58	32606											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659379	50659379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgctggcgttggacaCgtgcccgtgggtattccacc	13	13	0	1	rs202000654		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:50659379C>T	ENST00000248846.5	-	16	3513	c.3409G>A	c.(3409-3411)Gtg>Atg	p.V1137M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V1137M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1137	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGTTGGACACGTGCCCGTGG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3409-3411)Gtg>Atg		tubulin, gamma complex associated protein 6		C	MET/VAL	0,4406		0,0,2203	144	139	140		3409	5.2	0.7	22		140	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TUBGCP6	NM_020461.3	21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1137/1820	50659379	3,13003	2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659379C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3409G>A	22.37:g.50659379C>T	ENSP00000248846:p.Val1137Met					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V1137M	p.V1137M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	3901	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1137			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3409G>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	c	16.80	3.224444	0.58668	0.0	3.49E-4	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.14766	2.89;2.48	5.17	5.17	0.71159	.	0.442752	0.15798	U	0.244097	T	0.34395	0.0896	L	0.55481	1.735	0.28085	N	0.932031	P;D;D	0.76494	0.882;0.999;0.999	B;D;D	0.68621	0.298;0.938;0.959	T	0.05162	-1.0902	10	0.49607	T	0.09	.	18.6169	0.91305	0.0:1.0:0.0:0.0	.	1129;1137;1137	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	M	1137	ENSP00000248846:V1137M;ENSP00000397387:V1137M	ENSP00000248846:V1137M	V	-	1	0	TUBGCP6	49001506	0.000000	0.05858	0.728000	0.30774	0.002000	0.02628	0.456000	0.21859	2.569000	0.86673	0.650000	0.86243	GTG		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		25	102	0	0	0	1	0	25	102					T	50659379	C	T	50659379	3	4	329	1	0	0	0	0	1	0	0	0	16767	536	19	1	2090	1	TUBGCP6	22	50659379	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	18813899	50659379	645187	59	32607											
VCX3A	51481	broad.mit.edu	37	chrX	6451822	6451822	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttccatctcgctctcctgActcagtggttcctccacctg	6	17	4	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:6451822A>T	ENST00000381089.3	-	3	831	c.525T>A	c.(523-525)agT>agA	p.S175R	VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	175	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|lung(2)|pancreas(1)	4						CGCTCTCCTGACTCAGTGGTT	0.587																																						ENST00000381089.3																			0				NS(1)|lung(2)|pancreas(1)	4						c.(523-525)agT>agA		variable charge, X-linked 3A							261	234	243					X																	6451822		2203	4296	6499	SO:0001583	missense	51481				brain development	nucleolus		g.chrX:6451822A>T	AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"variable charge, X-linked 3"	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.525T>A	X.37:g.6451822A>T	ENSP00000370479:p.Ser175Arg					VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R	p.S175R	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN			3	831	-			175			8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.		Q9P0H4	Missense_Mutation	SNP	ENST00000381089.3	37	c.525T>A	CCDS35199.1	.	.	.	.	.	.	.	.	.	.	A	4.809	0.150432	0.09185	.	.	ENSG00000169059	ENST00000381089;ENST00000398729	T;T	0.16897	2.31;2.31	0.595	-1.19	0.09585	.	.	.	.	.	T	0.11281	0.0275	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.33803	-0.9854	9	0.33141	T	0.24	.	1.9625	0.03389	0.5003:0.0:0.2341:0.2656	.	175	Q9NNX9	VCX3_HUMAN	R	175;155	ENSP00000370479:S175R;ENSP00000381713:S155R	ENSP00000370479:S175R	S	-	3	2	VCX3A	6461822	0.001000	0.12720	0.006000	0.13384	0.029000	0.11900	-0.010000	0.12743	-1.310000	0.02312	-1.032000	0.02404	AGT		0.587	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055679.1	NM_016379		26	77	0	0	0	1	0	26	77					T	6451822	A	T	6451822	3	4	329	1	0	0	0	0	1	0	0	0	17141	272	10	5	39	5	VCX3A	23	6451822	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08		6451822	148818738	60	32608											
MAGEE1	57692	broad.mit.edu	37	chrX	75649650	75649650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagggtaaccaaggcctccGtggactcagattctgagggt	13	10	2	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:75649650G>A	ENST00000361470.2	+	1	1605	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	443						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						CAAGGCCTCCGTGGACTCAGA	0.537																																						ENST00000361470.2																			0				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						c.(1327-1329)Gtg>Atg		melanoma antigen family E, 1							39	33	35					X																	75649650		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649650G>A	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.1327G>A	X.37:g.75649650G>A	ENSP00000354912:p.Val443Met						p.V443M	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1605	+			443					Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1327G>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946973	0.18356	.	.	ENSG00000198934	ENST00000361470	T	0.03124	4.04	2.14	-0.194	0.13240	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	P	0.39717	0.684	B	0.17433	0.018	T	0.47433	-0.9118	9	0.36615	T	0.2	.	3.1924	0.06621	0.1567:0.0:0.3928:0.4505	.	443	Q9HCI5	MAGE1_HUMAN	M	443	ENSP00000354912:V443M	ENSP00000354912:V443M	V	+	1	0	MAGEE1	75566054	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.153000	0.10144	-0.400000	0.07656	0.538000	0.68166	GTG		0.537	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		8	8	0	0	0	1	0	8	8					A	75649650	G	A	75649650	3	1	329	1	0	0	0	0	1	0	0	0	9185	1145	40	1	1329	1	MAGEE1	23	75649650	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	69197828	75649650	79620910	61	32609											
MAGEA10	4109	broad.mit.edu	37	chrX	151303923	151303923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaggaggaggaggaggaaGaggaggaggagggaaaagag	23	1	0	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:151303923G>A	ENST00000370323.4	-	4	486	c.170C>T	c.(169-171)tCt>tTt	p.S57F	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	57	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaggaagaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(169-171)tCt>tTt		melanoma antigen family A, 10							66	70	68					X																	151303923		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303923G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.170C>T	X.37:g.151303923G>A	ENSP00000359347:p.Ser57Phe					MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F|RP11-1007I13.4_ENST00000509345.2_RNA	p.S57F	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	486	-	Acute lymphoblastic leukemia(192;6.56e-05)		57			Poly-Ser.			Missense_Mutation	SNP	ENST00000370323.4	37	c.170C>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.272081	0.23221	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	2.47	-0.453	0.12201	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.42275	-0.9461	9	0.54805	T	0.06	.	5.1475	0.14993	0.4971:0.0:0.5029:0.0	.	57	P43363	MAGAA_HUMAN	F	57	ENSP00000359347:S57F;ENSP00000244096:S57F;ENSP00000406161:S57F;ENSP00000391977:S57F	ENSP00000244096:S57F	S	-	2	0	MAGEA10	151054579	0.000000	0.05858	0.002000	0.10522	0.929000	0.56500	0.404000	0.20999	-0.224000	0.09928	0.464000	0.42555	TCT		0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		18	23	0	0	0	1	0	18	23					A	151303923	G	A	151303923	3	1	329	1	0	0	0	0	1	0	0	0	9164	942	33	2	943	2	MAGEA10	23	151303923	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	75654273	151303923	3966637	62	32610											
USP48	84196	broad.mit.edu	37	chr1	22016507	22016507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaatgacgccaagggtgCctagggtggcacagtcatca	14	10	2	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:22016507C>T	ENST00000308271.9	-	24	3617	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	USP48_ENST00000374732.3_Missense_Mutation_p.G476D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D|USP48_ENST00000529637.1_Missense_Mutation_p.G1002D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	990	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				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)		GCCAAGGGTGCCTAGGGTGGC	0.383																																						ENST00000308271.9																			0				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						c.(2968-2970)gGc>gAc		ubiquitin specific peptidase 48							98	94	95					1																	22016507		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22016507C>T	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.2969G>A	1.37:g.22016507C>T	ENSP00000309262:p.Gly990Asp					USP48_ENST00000529637.1_Missense_Mutation_p.G1002D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D|USP48_ENST00000374732.3_Missense_Mutation_p.G476D	p.G990D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		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)	24	3617	-		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)	990			Ubiquitin-like.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.2969G>A	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270328	0.80469	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.45276	0.9;0.91;0.9;0.91	5.61	5.61	0.85477	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.73598	2.24	0.80722	D	1	D;P;D;P;D;D	0.89917	1.0;0.73;1.0;0.952;0.958;1.0	D;B;D;P;P;D	0.97110	0.999;0.282;1.0;0.657;0.681;1.0	T	0.68205	-0.5470	10	0.62326	D	0.03	.	18.2065	0.89857	0.0:1.0:0.0:0.0	.	1002;990;115;938;990;476	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;.;UBP48_HUMAN;.	D	938;990;476;1002	ENSP00000383157:G938D;ENSP00000309262:G990D;ENSP00000363864:G476D;ENSP00000431949:G1002D	ENSP00000309262:G990D	G	-	2	0	USP48	21889094	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.990000	0.76225	2.650000	0.89964	0.655000	0.94253	GGC		0.383	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		36	38	0	0	0	1	0	36	38					T	22016507	C	T	22016507	3	4	330	1	0	0	0	0	1	0	0	0	17076	739	26	2	154	2	USP48	1	22016507	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		22016507	227234114	1	32611											
C1orf201	90529	broad.mit.edu	37	chr1	24696194	24696194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttttttggaacttttgtgCaatcactggggttgtaataa	9	5	2	0			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:24696194C>A	ENST00000374409.1	-	7	961	c.707G>T	c.(706-708)tGc>tTc	p.C236F	STPG1_ENST00000003583.8_Missense_Mutation_p.C189F|STPG1_ENST00000440416.1_Missense_Mutation_p.C189F|STPG1_ENST00000337248.4_Missense_Mutation_p.C236F|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	236					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACTTTTGTGCAATCACTGGG	0.418																																						ENST00000374409.1																			0											c.(706-708)tGc>tTc		sperm-tail PG-rich repeat containing 1							129	129	129					1																	24696194		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24696194C>A	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.707G>T	1.37:g.24696194C>A	ENSP00000363530:p.Cys236Phe					STPG1_ENST00000337248.4_Missense_Mutation_p.C236F|STPG1_ENST00000003583.8_Missense_Mutation_p.C189F|STPG1_ENST00000440416.1_Missense_Mutation_p.C189F|STPG1_ENST00000468303.1_5'UTR	p.C236F	NM_001199012.1	NP_001185941.1					7	961	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.707G>T	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756651	0.31137	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.92	-5.68	0.02436	.	0.671911	0.14380	N	0.323171	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	P;B;B	0.46457	0.878;0.11;0.08	P;B;B	0.47786	0.557;0.113;0.069	T	0.29119	-1.0022	9	0.36615	T	0.2	-14.1726	7.79	0.29114	0.0:0.3434:0.4589:0.1977	.	203;236;189	B4DRS3;Q5TH74;Q5TH74-3	.;CA201_HUMAN;.	F	236;189;189;236;203;139;140	.	ENSP00000003583:C189F	C	-	2	0	C1orf201	24568781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.588000	0.05774	-0.319000	0.08652	-0.176000	0.13171	TGC		0.418	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		6	86	1	0	0.000157383	1	0.000161222	6	86					A	24696194	C	A	24696194	3	1	330	1	0	0	0	0	1	0	0	0	2027	710	25	4	309	4	C1orf201	1	24696194	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	2679687	24696194	224554427	2	32612											
GPR61	83873	broad.mit.edu	37	chr1	110085791	110085791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggccctcttcttcatGctcctgctggacttgactgc	9	14	4	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:110085791G>A	ENST00000527748.1	+	2	830	c.147G>A	c.(145-147)atG>atA	p.M49I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCTTCATGCTCCTGCTGG	0.602																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(145-147)atG>atA		G protein-coupled receptor 61							167	167	167					1																	110085791		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110085791G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.147G>A	1.37:g.110085791G>A	ENSP00000432456:p.Met49Ile					RP5-1160K1.8_ENST00000526411.1_RNA	p.M49I	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	830	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	49					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.147G>A	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371101	0.61624	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36520	1.25	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	N	0.19112	0.55	0.50813	D	0.999894	D	0.69078	0.997	P	0.62740	0.906	T	0.26985	-1.0087	10	0.52906	T	0.07	-28.3678	17.1686	0.86822	0.0:0.0:1.0:0.0	.	49	Q9BZJ8	GPR61_HUMAN	I	49;177	ENSP00000432456:M49I	ENSP00000286603:M177I	M	+	3	0	GPR61	109887314	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.649000	0.98487	2.363000	0.80096	0.555000	0.69702	ATG		0.602	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			4	72	0	0	0	1	0	4	72					A	110085791	G	A	110085791	3	1	330	1	0	0	0	0	1	0	0	0	6702	1319	46	2	149	2	GPR61	1	110085791	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	85389597	110085791	139164830	3	32613											
MIA3	375056	broad.mit.edu	37	chr1	222827800	222827800	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagctaagagcctccgtgTccactaaatgtaacctggaa	8	10	0	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:222827800T>C	ENST00000344922.5	+	17	4472	c.4447T>C	c.(4447-4449)Tcc>Ccc	p.S1483P	MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1483					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)		AGCCTCCGTGTCCACTAAATG	0.373																																						ENST00000344922.5																			0				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						c.(4447-4449)Tcc>Ccc		melanoma inhibitory activity family, member 3							97	86	89					1																	222827800		1834	4094	5928	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222827800T>C		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.4447T>C	1.37:g.222827800T>C	ENSP00000340900:p.Ser1483Pro					MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P|MIA3_ENST00000344507.1_Intron	p.S1483P	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	17	4472	+			1483					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.4447T>C	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.25|16.25	3.070599|3.070599	0.55539|0.55539	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|T	0.45668|0.19250	1.46;1.46;0.89|2.16	5.97|5.97	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	T|T	0.27900|0.27900	0.0687|0.0687	L|L	0.54323|0.54323	1.7|1.7	0.27260|0.27260	N|N	0.95866|0.95866	D;D;D|.	0.89917|.	1.0;0.995;0.999|.	D;D;D|.	0.74674|.	0.984;0.951;0.949|.	T|T	0.09185|0.09185	-1.0686|-1.0686	9|7	0.49607|0.38643	T|T	0.09|0.18	.|.	9.6628|9.6628	0.39965|0.39965	0.163:0.0:0.0988:0.7382|0.163:0.0:0.0988:0.7382	.|.	1424;361;1483|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	P|A	1483;1483;1424;361;361|1006	ENSP00000340900:S1483P;ENSP00000340587:S1483P;ENSP00000345866:S361P|ENSP00000355062:V1006A	ENSP00000284471:S361P|ENSP00000355062:V1006A	S|V	+|+	1|2	0|0	MIA3|MIA3	220894423|220894423	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.680000|0.680000	0.39746|0.39746	0.475000|0.475000	0.22164|0.22164	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.373	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		16	34	0	0	0	1	0	16	34					C	222827800	T	C	222827800	3	2	330	1	0	0	0	0	1	0	0	0	9565	1667	58	3	4513	3	MIA3	1	222827800	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	112742009	222827800	26422821	4	32614											
C1orf31	388753	broad.mit.edu	37	chr1	234509498	234509498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttactgtccccgagcCgcgggttcctcttgtgcaaa	10	15	1	0			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:234509498C>T	ENST00000366613.1	+	1	70	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	COA6_ENST00000366615.4_Intron|RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366612.1_5'UTR	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	12						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										GTCCCCGAGCCGCGGGTTCCT	0.642																																						ENST00000366613.1																			0											c.(34-36)Cgc>Tgc		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							55	60	58					1																	234509498		2203	4300	6503	SO:0001583	missense	388753							g.chr1:234509498C>T		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"Mitochondrial respiratory chain complex assembly factors"	18025	protein-coding gene	gene with protein product		614772	"chromosome 1 open reading frame 31"	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.34C>T	1.37:g.234509498C>T	ENSP00000355572:p.Arg12Cys					COA6_ENST00000366615.4_Intron|COA6_ENST00000366612.1_5'UTR	p.R12C	NM_001012985.2	NP_001013003.1					1	70	+								Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.34C>T	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422758	0.25639	.	.	ENSG00000168275	ENST00000366613	.	.	.	2.79	1.86	0.25419	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.26421	N	0.976103	D	0.56968	0.978	B	0.34346	0.18	T	0.11916	-1.0568	8	0.49607	T	0.09	.	7.7592	0.28942	0.0:0.7403:0.2597:0.0	.	12	Q5JTJ3	CA031_HUMAN	C	12	.	ENSP00000355572:R12C	R	+	1	0	C1orf31	232576121	0.002000	0.14202	0.039000	0.18376	0.011000	0.07611	0.271000	0.18626	0.737000	0.32582	-0.150000	0.13652	CGC		0.642	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		24	35	0	0	0	1	0	24	35					T	234509498	C	T	234509498	3	4	330	1	0	0	0	0	1	0	0	0	2037	652	23	1	36	1	C1orf31	1	234509498	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	11681698	234509498	14741123	5	32615											
NOP58	51602	broad.mit.edu	37	chr2	203165048	203165048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtagataaagaggatgaaAttactgaaaagaaagccaaa	10	3	0	5			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:203165048A>G	ENST00000264279.5	+	13	1586	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	454	Lys-rich.				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						AGAGGATGAAATTACTGAAAA	0.333																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(1360-1362)Att>Gtt		NOP58 ribonucleoprotein							83	87	85					2																	203165048		2203	4299	6502	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203165048A>G		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.1360A>G	2.37:g.203165048A>G	ENSP00000264279:p.Ile454Val						p.I454V	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			13	1586	+			454			Lys-rich.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.1360A>G	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	A	4.499	0.092487	0.08632	.	.	ENSG00000055044	ENST00000264279	T	0.59638	0.25	6.04	-8.85	0.00799	.	1.192850	0.05784	N	0.609236	T	0.32315	0.0825	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	10	0.30078	T	0.28	-23.3421	12.8112	0.57641	0.1159:0.2364:0.6477:0.0	.	454	Q9Y2X3	NOP58_HUMAN	V	454	ENSP00000264279:I454V	ENSP00000264279:I454V	I	+	1	0	NOP58	202873293	0.003000	0.15002	0.000000	0.03702	0.099000	0.18886	0.175000	0.16762	-1.034000	0.03295	-0.468000	0.05107	ATT		0.333	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		9	89	0	0	0	1	0	9	89					G	203165048	A	G	203165048	3	3	330	1	0	0	0	0	1	0	0	0	10540	101	4	3	1410	3	NOP58	2	203165048	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		203165048	40034325	6	32616											
ZDBF2	57683	broad.mit.edu	37	chr2	207173877	207173877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattatgaagtaatttcagAtgatattccccttcagttag	7	6	2	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:207173877A>G	ENST00000374423.3	+	5	5011	c.4625A>G	c.(4624-4626)gAt>gGt	p.D1542G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1542							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						GTAATTTCAGATGATATTCCC	0.398																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4624-4626)gAt>gGt		zinc finger, DBF-type containing 2							56	58	58					2																	207173877		1866	4095	5961	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173877A>G	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.4625A>G	2.37:g.207173877A>G	ENSP00000363545:p.Asp1542Gly						p.D1542G	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	5011	+			1542					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.4625A>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298188	0.23650	.	.	ENSG00000204186	ENST00000374423	T	0.66460	-0.21	4.01	1.57	0.23409	.	.	.	.	.	T	0.63283	0.2498	L	0.48642	1.525	0.09310	N	1	D	0.56968	0.978	P	0.53224	0.721	T	0.51276	-0.8726	9	0.38643	T	0.18	.	3.3068	0.07002	0.6875:0.0:0.1104:0.2021	.	1542	Q9HCK1	ZDBF2_HUMAN	G	1542	ENSP00000363545:D1542G	ENSP00000363545:D1542G	D	+	2	0	ZDBF2	206882122	0.876000	0.30132	0.246000	0.24233	0.031000	0.12232	0.854000	0.27791	0.338000	0.23692	-0.353000	0.07706	GAT		0.398	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	13	0	0	0	1	0	6	13					G	207173877	A	G	207173877	3	3	330	1	0	0	0	0	1	0	0	0	17596	333	12	3	4635	3	ZDBF2	2	207173877	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	4008829	207173877	36025496	7	32617											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	25	0	0	0	1	0	27	25					T	209113112	C	T	209113112	3	4	330	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	1939235	209113112	34086261	8	32618											
SETD5	55209	broad.mit.edu	37	chr3	9476055	9476055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacctgaatggcctgccgtCgcctgtagaggaacgctgtg	14	11	0	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:9476055C>T	ENST00000406341.1	+	4	405	c.215C>T	c.(214-216)tCg>tTg	p.S72L	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L|SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.S72L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	72										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)		GGCCTGCCGTCGCCTGTAGAG	0.552																																						ENST00000402198.1																			0				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						c.(214-216)tCg>tTg		SET domain containing 5							89	95	93					3																	9476055		1988	4156	6144	SO:0001583	missense	55209							g.chr3:9476055C>T	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.215C>T	3.37:g.9476055C>T	ENSP00000383939:p.Ser72Leu					SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.S72L|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L	p.S72L	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	5	650	+	Medulloblastoma(99;0.227)		72					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.215C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413386	0.42817	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.90900	1.49;-2.75;-2.75;-2.68	5.98	5.11	0.69529	.	.	.	.	.	D	0.86104	0.5853	L	0.36672	1.1	0.80722	D	1	B;B	0.17667	0.013;0.023	B;B	0.10450	0.002;0.005	T	0.81387	-0.0956	9	0.44086	T	0.13	0.1709	14.3106	0.66413	0.0:0.9285:0.0:0.0715	.	72;91	Q9C0A6;E7EWN3	SETD5_HUMAN;.	L	72;72;72;91	ENSP00000413786:S72L;ENSP00000385852:S72L;ENSP00000383939:S72L;ENSP00000384114:S91L	ENSP00000385852:S72L	S	+	2	0	SETD5	9451055	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.585000	0.60977	2.838000	0.97847	0.591000	0.81541	TCG		0.552	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	41	0	0	0	1	0	4	41					T	9476055	C	T	9476055	3	4	330	1	0	0	0	0	1	0	0	0	14134	893	31	1	225	1	SETD5	3	9476055	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		9476055	188546375	9	32619											
CTNNB1	1499	broad.mit.edu	37	chr3	41274830	41274830	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatcctttttaattttctAggtggaatgcaagctttagg	8	5	1	0			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:41274830A>G	ENST00000349496.5	+	8	1361		c.e8-1		CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|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)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|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)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTAATTTTCTAGGTGGAATGC	0.408		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.e8-1		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						79	70	73					3																	41274830		2203	4300	6503	SO:0001630	splice_region_variant	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41274830A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1082-1A>G	3.37:g.41274830A>G						CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site		NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	8	1361	+								A8K1L7|Q8NEW9|Q8NI94|Q9H391	Splice_Site	SNP	ENST00000349496.5	37		CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423374	0.62733	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9983	0.80268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNB1	41249834	1.000000	0.71417	0.920000	0.36463	0.796000	0.44982	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	.		0.408	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	Intron	8	54	0	0	0	1	0	8	54					G	41274830	A	G	41274830	5	3	330	1	0	0	0	0	0	0	1	0	4016	434	15	3	1106	3	CTNNB1	3	41274830	Splice_Site	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	31798775	41274830	156747600	10	32620											
MAP4	4134	broad.mit.edu	37	chr3	47957593	47957593	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgagagtggtggaacaTctttggctggagtcacattg	13	6	3	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:47957593T>C	ENST00000360240.6	-	7	2242	c.1724A>G	c.(1723-1725)gAt>gGt	p.D575G	MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000426837.2_Missense_Mutation_p.D592G|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	575					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)	TGGTGGAACATCTTTGGCTGG	0.483																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1774-1776)gAt>gGt		microtubule-associated protein 4							213	205	207					3																	47957593		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47957593T>C		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.1724A>G	3.37:g.47957593T>C	ENSP00000353375:p.Asp575Gly					MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000360240.6_Missense_Mutation_p.D575G	p.D592G			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1862	-			575					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.1775A>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706276	0.30232	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.15952	2.4;2.38;2.4	3.57	2.41	0.29592	.	.	.	.	.	T	0.29652	0.0740	M	0.75777	2.31	0.09310	N	1	D;P;P	0.65815	0.995;0.946;0.835	P;P;B	0.59703	0.862;0.453;0.363	T	0.12502	-1.0545	9	0.26408	T	0.33	-0.42	3.8109	0.08796	0.0:0.1163:0.221:0.6626	.	552;575;575	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	G	575;592;575	ENSP00000379083:D575G;ENSP00000407602:D592G;ENSP00000353375:D575G	ENSP00000353375:D575G	D	-	2	0	MAP4	47932597	0.001000	0.12720	0.011000	0.14972	0.893000	0.52053	0.763000	0.26517	0.741000	0.32674	0.460000	0.39030	GAT		0.483	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		72	116	0	0	0	1	0	72	116					C	47957593	T	C	47957593	3	2	330	1	0	0	0	0	1	0	0	0	9258	1435	50	3	3145	3	MAP4	3	47957593	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	6682763	47957593	150064837	11	32621											
PDLIM3	27295	broad.mit.edu	37	chr4	186444599	186444599	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccataagtgagtttctcCcctggaaataaaataaaatt	6	7	1	2			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr4:186444599C>T	ENST00000284770.5	-	3	320	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PDLIM3_ENST00000284771.6_Splice_Site_p.G83R|PDLIM3_ENST00000284767.5_Splice_Site_p.G83R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	83	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAGTTTCTCCCCTGGAAATA	0.343																																						ENST00000284767.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.e3-1		PDZ and LIM domain 3							69	68	68					4																	186444599		2203	4300	6503	SO:0001630	splice_region_variant	27295					sarcomere	zinc ion binding	g.chr4:186444599C>T	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.246-1G>A	4.37:g.186444599C>T						PDLIM3_ENST00000284770.5_Splice_Site_p.G83_splice|PDLIM3_ENST00000284771.6_Splice_Site_p.G83_splice	p.G83_splice			Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	3	314	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	83			PDZ.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Splice_Site	SNP	ENST00000284770.5	37	c.245_splice	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	c	12.69	2.013949	0.35511	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.47177	0.85;0.85;0.85	5.22	5.22	0.72569	PDZ/DHR/GLGF (3);	0.272836	0.41194	D	0.000938	T	0.47820	0.1466	N	0.25380	0.74	0.28541	N	0.912121	P;B;B	0.41313	0.745;0.023;0.002	P;B;B	0.47827	0.558;0.056;0.006	T	0.46803	-0.9165	10	0.45353	T	0.12	-6.1638	18.7876	0.91961	0.0:1.0:0.0:0.0	.	83;83;83	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	R	83	ENSP00000284770:G83R;ENSP00000284771:G83R;ENSP00000284767:G83R	ENSP00000284767:G83R	G	-	1	0	PDLIM3	186681593	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	1.713000	0.37951	2.437000	0.82529	0.651000	0.88453	GGA		0.343	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476	Missense_Mutation	6	17	0	0	0	1	0	6	17					T	186444599	C	T	186444599	5	4	330	1	0	0	0	0	0	0	1	0	11681	637	22	2	1063	2	PDLIM3	4	186444599	Splice_Site	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		186444599	4709677	12	32622											
PDE10A	10846	broad.mit.edu	37	chr6	165863791	165863791	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctcctcctgtgtccaaCcgttgttctatatagctgtt	7	11	2	0	rs144686330		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr6:165863791C>G	ENST00000366882.1	-	5	409	c.255G>C	c.(253-255)cgG>cgC	p.R85R	PDE10A_ENST00000539869.2_Silent_p.R95R|PDE10A_ENST00000354448.4_Silent_p.R85R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	85					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	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)|metal ion binding (GO:0046872)	p.R85R(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTGTGTCCAACCGTTGTTCTA	0.348																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - coding silent(1)	p.R85R(1)	skin(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(253-255)cgG>cgC		phosphodiesterase 10A	Dipyridamole(DB00975)						177	160	166					6																	165863791		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165863791C>G	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.255G>C	6.37:g.165863791C>G						PDE10A_ENST00000354448.4_Silent_p.R85R|PDE10A_ENST00000539869.2_Silent_p.R95R	p.R85R			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	5	409	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	85					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.255G>C																																																																																					0.348	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			61	91	0	0	0	1	0	61	91					G	165863791	C	G	165863791	2	3	330	1	0	0	0	0	0	0	0	1	11630	494	18	4		4	PDE10A	6	165863791	Silent	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		165863791	5251276	13	32623											
TRIM56	81844	broad.mit.edu	37	chr7	100732118	100732118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacaagcggtcccccCggatcaccgggctctgtccc	12	17	2	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:100732118C>T	ENST00000306085.6	+	3	1822	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	509					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGGTCCCCCCGGATCACCGG	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1525-1527)Cgg>Tgg		tripartite motif containing 56							59	68	65					7																	100732118		2000	4160	6160	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732118C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1525C>T	7.37:g.100732118C>T	ENSP00000305161:p.Arg509Trp						p.R509W	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	1822	+	Lung NSC(181;0.136)|all_lung(186;0.182)		509					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1525C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236774	0.39498	.	.	ENSG00000169871	ENST00000306085	T	0.51071	0.72	3.88	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.40522	0.1120	N	0.19112	0.55	0.28043	N	0.933677	D	0.76494	0.999	P	0.50082	0.63	T	0.15578	-1.0432	9	0.37606	T	0.19	.	11.6346	0.51196	0.0:1.0:0.0:0.0	.	509	Q9BRZ2	TRI56_HUMAN	W	509	ENSP00000305161:R509W	ENSP00000305161:R509W	R	+	1	2	TRIM56	100518838	0.862000	0.29867	0.533000	0.28001	0.276000	0.26787	1.780000	0.38634	2.449000	0.82847	0.591000	0.81541	CGG		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		48	95	0	0	0	1	0	48	95					T	100732118	C	T	100732118	3	4	330	1	0	0	0	0	1	0	0	0	16527	643	23	1	1527	1	TRIM56	7	100732118	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		100732118	58406545	14	32624											
PLXNA4	91584	broad.mit.edu	37	chr7	131866888	131866888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccctccatgcttggcacGgatctgggggttctgtatga	12	11	2	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:131866888G>A	ENST00000359827.3	-	17	4182	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C			Q9HCM2	PLXA4_HUMAN	plexin A4	1074	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTTGGCACGGATCTGGGGG	0.542																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3220-3222)Cgt>Tgt		plexin A4							135	140	139					7																	131866888		1981	4164	6145	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866888G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3220C>T	7.37:g.131866888G>A	ENSP00000352882:p.Arg1074Cys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C	p.R1074C			Q9HCM2	PLXA4_HUMAN			17	4182	-			1074			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3220C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037389	0.75617	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.78364	-1.17;-1.17	5.43	4.55	0.56014	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051192	0.64402	D	0.000001	D	0.88855	0.6550	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89049	0.3454	10	0.39692	T	0.17	.	13.459	0.61217	0.0:0.0:0.7161:0.2839	.	1074	Q9HCM2	PLXA4_HUMAN	C	1074	ENSP00000323194:R1074C;ENSP00000352882:R1074C	ENSP00000323194:R1074C	R	-	1	0	PLXNA4	131517428	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.231000	0.58639	1.287000	0.44583	0.561000	0.74099	CGT		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		6	96	0	0	0	1	0	6	96					A	131866888	G	A	131866888	3	1	330	1	0	0	0	0	1	0	0	0	12122	1116	39	1	2528	1	PLXNA4	7	131866888	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	31134770	131866888	27271775	15	32625											
ANKRD46	157567	broad.mit.edu	37	chr8	101542045	101542045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgagaagaatcatttAcaaaaacatacgacattgtt	6	6	2	2			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr8:101542045A>G	ENST00000520552.1	-	3	178	c.17T>C	c.(16-18)gTa>gCa	p.V6A	ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000520311.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	6						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGAATCATTTACAAAAACATA	0.408																																						ENST00000520311.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(16-18)gTa>gCa		ankyrin repeat domain 46							49	47	48					8																	101542045		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101542045A>G	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"Ankyrin repeat domain containing"	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.17T>C	8.37:g.101542045A>G	ENSP00000429015:p.Val6Ala					ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.V6A	p.V6A	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	820	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		6					Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.17T>C	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158274	0.78114	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.58797	0.8;0.86;0.86;0.86;1.05;0.85;0.46;0.31;1.32	5.78	5.78	0.91487	.	0.057287	0.64402	D	0.000001	T	0.50309	0.1608	L	0.41492	1.28	0.52099	D	0.999943	B;B	0.29766	0.02;0.256	B;B	0.26310	0.008;0.068	T	0.49173	-0.8967	10	0.46703	T	0.11	-8.0083	16.1138	0.81283	1.0:0.0:0.0:0.0	.	6;6	Q86W74-2;Q86W74	.;ANR46_HUMAN	A	6	ENSP00000429015:V6A;ENSP00000335287:V6A;ENSP00000430056:V6A;ENSP00000428388:V6A;ENSP00000430827:V6A;ENSP00000351881:V6A;ENSP00000430357:V6A;ENSP00000430800:V6A;ENSP00000429647:V6A	ENSP00000335287:V6A	V	-	2	0	ANKRD46	101611221	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.744000	0.91596	2.220000	0.72140	0.533000	0.62120	GTA		0.408	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		4	64	0	0	0	1	0	4	64					G	101542045	A	G	101542045	3	3	330	1	0	0	0	0	1	0	0	0	674	391	14	3	681	3	ANKRD46	8	101542045	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		101542045	44821977	16	32626											
UHRF2	115426	broad.mit.edu	37	chr9	6499916	6499916	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcccagtggaaccacaaaaAggccaatttcagatggtagg	11	9	1	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr9:6499916A>G	ENST00000276893.5	+	13	2158	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	664					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AACCACAAAAAGGCCAATTTC	0.433																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(1990-1992)Agg>Ggg		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							61	61	61					9																	6499916		2203	4300	6503	SO:0001583	missense	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6499916A>G	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1990A>G	9.37:g.6499916A>G	ENSP00000276893:p.Arg664Gly					UHRF2_ENST00000485617.2_3'UTR	p.R664G	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	13	2158	+		Acute lymphoblastic leukemia(23;0.158)	664					Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	c.1990A>G	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	A	7.169	0.587209	0.13812	.	.	ENSG00000147854	ENST00000276893	D	0.86562	-2.14	5.67	-0.0222	0.13948	.	0.272209	0.42420	D	0.000713	D	0.84115	0.5401	M	0.69358	2.11	0.80722	D	1	P	0.35383	0.498	B	0.37239	0.244	T	0.78465	-0.2193	10	0.30078	T	0.28	-11.9807	13.1151	0.59295	0.4466:0.5534:0.0:0.0	.	664	Q96PU4	UHRF2_HUMAN	G	664	ENSP00000276893:R664G	ENSP00000276893:R664G	R	+	1	2	UHRF2	6489916	1.000000	0.71417	0.975000	0.42487	0.012000	0.07955	1.361000	0.34136	0.111000	0.17947	-0.321000	0.08615	AGG		0.433	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		7	10	0	0	0	1	0	7	10					G	6499916	A	G	6499916	3	3	330	1	0	0	0	0	1	0	0	0	16967	63	3	3	2040	3	UHRF2	9	6499916	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		6499916	134713515	17	32627											
AGAP7	653268	broad.mit.edu	37	chr10	51465603	51465603	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcacaccattggaacAcagggtgacgtatttctttt	11	8	1	2			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr10:51465603A>C	ENST00000374095.5	-	7	978	c.853T>G	c.(853-855)Tgt>Ggt	p.C285G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CCATTGGAACACAGGGTGACG	0.433																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(853-855)Tgt>Ggt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							39	42	41					10																	51465603		2170	4262	6432	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465603A>C																												ENST00000374095.5:c.853T>G	10.37:g.51465603A>C	ENSP00000363208:p.Cys285Gly						p.C285G	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	978	-			285			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.853T>G	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	4.731	0.136019	0.09032	.	.	ENSG00000204169	ENST00000374095	T	0.17213	2.29	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051306	0.85682	D	0.000000	T	0.17874	0.0429	M	0.75447	2.3	0.32967	D	0.521761	B	0.02656	0.0	B	0.04013	0.001	T	0.07578	-1.0765	8	0.46703	T	0.11	.	.	.	.	.	285	Q5VUJ5	AGAP7_HUMAN	G	285	ENSP00000363208:C285G	ENSP00000363208:C285G	C	-	1	0	AGAP7	51135609	0.877000	0.30153	0.013000	0.15412	0.013000	0.08279	3.310000	0.51911	0.149000	0.19098	0.147000	0.16070	TGT		0.433	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			28	325	0	0	0	1	0	28	325					C	51465603	A	C	51465603	3	2	330	1	0	0	0	0	1	0	0	0	373	159	6	5	1142	5	AGAP7	10	51465603	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		51465603	84069144	18	32628											
CTSW	1521	broad.mit.edu	37	chr11	65650804	65650804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggggatatgggcagAgacagtctcatcgcagtctc	15	8	2	2			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:65650804A>C	ENST00000307886.3	+	9	975	c.929A>C	c.(928-930)gAg>gCg	p.E310A	CTSW_ENST00000528419.1_Missense_Mutation_p.E310A|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	310					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ATATGGGCAGAGACAGTCTCA	0.597																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(928-930)gAg>gCg		cathepsin W							115	110	112					11																	65650804		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650804A>C	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.929A>C	11.37:g.65650804A>C	ENSP00000311300:p.Glu310Ala					CTSW_ENST00000307886.3_Missense_Mutation_p.E310A	p.E310A			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	9	933	+			310					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.929A>C	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	A	5.056	0.196086	0.09599	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.74106	-0.81;-0.56	4.99	-3.53	0.04667	Peptidase C1A, papain C-terminal (2);	56.025700	0.00166	N	0.000000	T	0.55146	0.1902	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.17098	0.007;0.017	T	0.46219	-0.9207	10	0.17369	T	0.5	.	11.9998	0.53224	0.392:0.0:0.608:0.0	.	310;310	P56202;E9PI30	CATW_HUMAN;.	A	310	ENSP00000311300:E310A;ENSP00000436568:E310A	ENSP00000311300:E310A	E	+	2	0	CTSW	65407380	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.280000	0.08468	-0.567000	0.06046	0.402000	0.26972	GAG		0.597	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		34	57	0	0	0	1	0	34	57					C	65650804	A	C	65650804	3	2	330	1	0	0	0	0	1	0	0	0	4042	304	11	5	963	5	CTSW	11	65650804	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		65650804	69355712	19	32629											
DHCR7	1717	broad.mit.edu	37	chr11	71152482	71152482	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgatacttgttcacAacccctgcagatgaaggatt	8	9	2	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:71152482A>C	ENST00000355527.3	-	6	693	c.417T>G	c.(415-417)gtT>gtG	p.V139V	DHCR7_ENST00000407721.2_Silent_p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	139					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACTTGTTCACAACCCCTGCAG	0.572									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(415-417)gtT>gtG		7-dehydrocholesterol reductase	NADH(DB00157)						114	93	100					11																	71152482		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71152482A>C	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.417T>G	11.37:g.71152482A>C						DHCR7_ENST00000407721.2_Silent_p.V139V	p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			6	693	-			139					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.417T>G	CCDS8200.1																																																																																				0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	7	0	0	0	1	0	3	7					C	71152482	A	C	71152482	2	2	330	1	0	0	0	0	0	0	0	1	4477	117	5	5		5	DHCR7	11	71152482	Silent	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	5501678	71152482	63854034	20	32630											
ST3GAL4	6484	broad.mit.edu	37	chr11	126283484	126283484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctttggctacccagacGcctacaacaagaagcagacc	9	15	0	3	rs550860098		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:126283484G>A	ENST00000526727.1	+	9	1230	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	286					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACCCAGACGCCTACAACAA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17251	0.0		0.0	False		,,,				2504	0.001					ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(856-858)Gcc>Acc		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							114	97	103					11																	126283484		2201	4297	6498	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283484G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.856G>A	11.37:g.126283484G>A	ENSP00000436047:p.Ala286Thr					ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T	p.A286T			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	9	1230	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	286					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.856G>A	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833146	0.32421	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.33	2.18	0.27775	.	.	.	.	.	T	0.16041	0.0386	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.26360	-1.0105	9	0.19147	T	0.46	.	1.3262	0.02126	0.1911:0.1151:0.4217:0.2721	.	282;286	Q6IBE6;Q11206	.;SIA4C_HUMAN	T	282;286;292;282;286;286;286;275;285;281;122	ENSP00000227495:A282T;ENSP00000394354:A286T;ENSP00000348451:A292T;ENSP00000433989:A282T;ENSP00000433318:A286T;ENSP00000376437:A286T;ENSP00000436047:A286T;ENSP00000399444:A275T;ENSP00000434349:A285T;ENSP00000434668:A281T;ENSP00000431170:A122T	ENSP00000227495:A282T	A	+	1	0	ST3GAL4	125788694	0.977000	0.34250	0.579000	0.28588	0.910000	0.53928	1.865000	0.39479	0.641000	0.30601	0.455000	0.32223	GCC		0.592	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		20	23	0	0	0	1	0	20	23					A	126283484	G	A	126283484	3	1	330	1	0	0	0	0	1	0	0	0	15216	1087	38	1	878	1	ST3GAL4	11	126283484	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	55131002	126283484	8723032	21	32631											
LRRC43	254050	broad.mit.edu	37	chr12	122685179	122685179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaggagaaagacaggaCggggaaaggagagaaagagc	19	3	0	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr12:122685179C>T	ENST00000339777.4	+	9	1620	c.1592C>T	c.(1591-1593)aCg>aTg	p.T531M	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	531	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aaagacaggacggggaaagga	0.582																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1591-1593)aCg>aTg		leucine rich repeat containing 43							83	100	94					12																	122685179		1977	4130	6107	SO:0001583	missense	254050							g.chr12:122685179C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1592C>T	12.37:g.122685179C>T	ENSP00000344233:p.Thr531Met					LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M|LRRC43_ENST00000537733.1_3'UTR	p.T531M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	9	1620	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		531			Lys-rich.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1592C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	7.161	0.585681	0.13749	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56444	0.46;0.88	3.47	-6.95	0.01628	.	1.779500	0.04190	N	0.328128	T	0.27900	0.0687	N	0.14661	0.345	0.09310	N	1	P	0.36712	0.566	B	0.27887	0.084	T	0.33059	-0.9883	10	0.51188	T	0.08	1.9008	8.315	0.32095	0.244:0.5677:0.1883:0.0	.	531	Q8N309	LRC43_HUMAN	M	531;402;346	ENSP00000344233:T531M;ENSP00000416628:T346M	ENSP00000289014:T402M	T	+	2	0	LRRC43	121251132	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.110000	0.15437	-0.984000	0.03507	-2.272000	0.00274	ACG		0.582	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		11	39	0	0	0	1	0	11	39					T	122685179	C	T	122685179	3	4	330	1	0	0	0	0	1	0	0	0	9001	536	19	1	1626	1	LRRC43	12	122685179	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		122685179	11166716	22	32632											
NEK5	341676	broad.mit.edu	37	chr13	52676316	52676316	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtctcgaggagatactTgaaagagctgagatatcaag	13	6	2	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr13:52676316T>G	ENST00000355568.4	-	10	861	c.722A>C	c.(721-723)cAa>cCa	p.Q241P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGAGATACTTGAAAGAGCTG	0.413																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(721-723)cAa>cCa		NIMA-related kinase 5							154	172	166					13																	52676316		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676316T>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.722A>C	13.37:g.52676316T>G	ENSP00000347767:p.Gln241Pro						p.Q241P	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	861	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	241			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.722A>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	T	6.573	0.474082	0.12521	.	.	ENSG00000197168	ENST00000355568	T	0.66638	-0.22	5.64	0.48	0.16804	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.390052	0.26213	N	0.025676	T	0.65688	0.2715	M	0.90425	3.115	0.19945	N	0.999948	B	0.19935	0.04	B	0.14023	0.01	T	0.60388	-0.7273	10	0.52906	T	0.07	.	5.0421	0.14463	0.1241:0.2099:0.0:0.666	.	241	Q6P3R8	NEK5_HUMAN	P	241	ENSP00000347767:Q241P	ENSP00000347767:Q241P	Q	-	2	0	NEK5	51574317	0.970000	0.33590	0.003000	0.11579	0.004000	0.04260	1.091000	0.30915	-0.114000	0.11936	-0.433000	0.05886	CAA		0.413	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		20	252	0	0	0	1	0	20	252					G	52676316	T	G	52676316	3	3	330	1	0	0	0	0	1	0	0	0	10327	1812	63	5	1456	5	NEK5	13	52676316	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08		52676316	62493562	23	32633											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	7	0	0	0	1	0	21	7					A	7578212	G	A	7578212	4	1	330	1	0	0	0	0	0	1	0	0	16378	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08		7578212	73616998	24	32634											
CACNA1G	8913	broad.mit.edu	37	chr17	48703526	48703526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagcagcactcccgcaGccacagcaagatctccaagc	9	17	1	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:48703526G>A	ENST00000359106.5	+	38	6548	c.6548G>A	c.(6547-6549)aGc>aAc	p.S2183N	CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S2056N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2183					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)			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)	CACTCCCGCAGCCACAGCAAG	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6166-6168)aGc>aAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						30	40	37					17																	48703526		2111	4226	6337	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703526G>A	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.6548G>A	17.37:g.48703526G>A	ENSP00000352011:p.Ser2183Asn		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2183N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N	p.S2056N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6539	+	Breast(11;6.7e-17)		2183					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	ENST00000359106.5	37	c.6167G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	0.463	-0.888153	0.02511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000359106;ENST00000429973;ENST00000515411	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-3.98;-3.98;-3.9;-3.98;-3.95;-4.0;-4.07;-4.04;-4.05;-4.06;-3.9;-3.92;-3.98;-3.97;-3.88;-4.01;-3.96;-3.9;-4.01;-3.92;-4.0;-3.9	5.1	1.44	0.22558	.	1.814990	0.02512	N	0.091625	D	0.91246	0.7241	N	0.22421	0.69	0.21897	N	0.99948	B;B;B;B;B;B;B;B;B;B;B;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;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;B;B;B;B;B;B;B;B;B;B;B	0.08055	0.0;0.0;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.003;0.001;0.0;0.001;0.0;0.001;0.001;0.0;0.001;0.0;0.0;0.0;0.001	T	0.81820	-0.0757	10	0.19590	T	0.45	.	3.6948	0.08360	0.2909:0.0:0.517:0.1921	.	2033;2045;2038;2120;2093;2065;2097;2056;2083;2112;2079;2172;2072;2127;2090;2160;2138;2056;2049;2104;2067;2183	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN	N	2067;2056;2149;2049;2112;2079;2045;2033;2038;2056;2138;2172;2093;2083;2104;2090;2065;2127;2097;2183;2072;2120	ENSP00000353990:S2067N;ENSP00000339302:S2056N;ENSP00000347078:S2149N;ENSP00000409759:S2049N;ENSP00000425522:S2112N;ENSP00000426261:S2079N;ENSP00000425451:S2045N;ENSP00000422407:S2033N;ENSP00000426814:S2038N;ENSP00000427238:S2056N;ENSP00000423112:S2138N;ENSP00000420918:S2172N;ENSP00000426172:S2093N;ENSP00000423045:S2083N;ENSP00000427173:S2104N;ENSP00000426098:S2090N;ENSP00000425698:S2065N;ENSP00000426232:S2127N;ENSP00000423317:S2097N;ENSP00000352011:S2183N;ENSP00000414388:S2072N;ENSP00000423155:S2120N	ENSP00000339302:S2056N	S	+	2	0	CACNA1G	46058525	0.973000	0.33851	0.402000	0.26371	0.031000	0.12232	1.506000	0.35747	0.527000	0.28560	0.462000	0.41574	AGC		0.657	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		3	25	0	0	0	1	0	3	25					A	48703526	G	A	48703526	3	1	330	1	0	0	0	0	1	0	0	0	2544	971	34	2	6965	2	CACNA1G	17	48703526	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	41125314	48703526	32491684	25	32635											
BZRAP1	9256	broad.mit.edu	37	chr17	56395723	56395723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagactctgccttcttggctGtccttcgagggaccccagtg	12	13	2	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:56395723G>A	ENST00000343736.4	-	14	1953	c.1790C>T	c.(1789-1791)aCa>aTa	p.T597I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.T597I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	597						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)					CTTCTTGGCTGTCCTTCGAGG	0.617																																						ENST00000355701.3																			0				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						c.(1789-1791)aCa>aTa		benzodiazapine receptor (peripheral) associated protein 1							134	119	124					17																	56395723		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56395723G>A	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.1790C>T	17.37:g.56395723G>A	ENSP00000345824:p.Thr597Ile					BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.T597I	p.T597I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			14	2660	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		597					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1790C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490303	0.44249	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88124	-2.34;-2.34;-2.34	4.89	2.92	0.33932	.	1.421050	0.03919	N	0.283167	T	0.79534	0.4462	N	0.08118	0	0.09310	N	1	B;P;B	0.47604	0.112;0.898;0.016	B;P;B	0.48270	0.039;0.572;0.026	T	0.70517	-0.4850	10	0.36615	T	0.2	.	4.3695	0.11241	0.1797:0.0:0.5463:0.274	.	597;537;597	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	597;597;537	ENSP00000347929:T597I;ENSP00000345824:T597I;ENSP00000268893:T537I	ENSP00000268893:T537I	T	-	2	0	BZRAP1	53750722	0.248000	0.23930	0.069000	0.20011	0.803000	0.45373	2.025000	0.41059	0.672000	0.31204	-0.379000	0.06801	ACA		0.617	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		3	43	0	0	0	1	0	3	43					A	56395723	G	A	56395723	3	1	330	1	0	0	0	0	1	0	0	0	1577	1377	48	2	3855	2	BZRAP1	17	56395723	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	7692197	56395723	24799487	26	32636											
HNF4A	3172	broad.mit.edu	37	chr20	43042409	43042409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgccctccatcaatgCgctcctgcaggcggaggtcc	11	17	1	0	rs147342965		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:43042409C>T	ENST00000316099.4	+	4	550	c.461C>T	c.(460-462)gCg>gTg	p.A154V	HNF4A_ENST00000415691.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V|HNF4A_ENST00000609795.1_Missense_Mutation_p.A132V|HNF4A_ENST00000316673.4_Missense_Mutation_p.A132V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	154					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCATCAATGCGCTCCTGCAG	0.632																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(460-462)gCg>gTg		hepatocyte nuclear factor 4, alpha							75	57	63					20																	43042409		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43042409C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.461C>T	20.37:g.43042409C>T	ENSP00000312987:p.Ala154Val					HNF4A_ENST00000415691.1_Missense_Mutation_p.A154V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V	p.A154V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	550	+		Myeloproliferative disorder(115;0.0122)	154					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.461C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327703	0.24080	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.16	4.22	0.49857	Nuclear hormone receptor, ligand-binding (2);	0.156081	0.56097	N	0.000025	D	0.83027	0.5165	N	0.08118	0	0.45097	D	0.998112	B;B;B;B;B;B;B	0.11235	0.003;0.0;0.0;0.003;0.003;0.001;0.004	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.002;0.0;0.001;0.002	T	0.75317	-0.3360	10	0.23891	T	0.37	.	8.4171	0.32678	0.0:0.7075:0.0:0.2925	.	147;154;154;154;132;132;132	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	V	132;132;154;154;184;154	ENSP00000315180:A132V;ENSP00000396216:A132V;ENSP00000312987:A154V;ENSP00000410911:A154V;ENSP00000412111:A154V	ENSP00000312987:A154V	A	+	2	0	HNF4A	42475823	0.990000	0.36364	0.952000	0.39060	0.866000	0.49608	2.642000	0.46596	1.167000	0.42706	-0.262000	0.10625	GCG		0.632	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			3	9	0	0	0	1	0	3	9					T	43042409	C	T	43042409	3	4	330	1	0	0	0	0	1	0	0	0	7253	768	27	1	528	1	HNF4A	20	43042409	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		43042409	19983111	27	32637											
ARFGEF2	10564	broad.mit.edu	37	chr20	47648590	47648590	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctaattcttctagtgttTgcagtgaagctcttgcctat	7	9	4	1	rs148821408	byFrequency	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:47648590T>C	ENST00000371917.4	+	38	5068	c.5068T>C	c.(5068-5070)Tgc>Cgc	p.C1690R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1690					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)			TTCTAGTGTTTGCAGTGAAGC	0.383																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				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						c.(5068-5070)Tgc>Cgc		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							186	205	199					20																	47648590		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47648590T>C	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.5068T>C	20.37:g.47648590T>C	ENSP00000360985:p.Cys1690Arg						p.C1690R	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		38	5068	+			1690					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.5068T>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878854	0.91740	.	.	ENSG00000124198	ENST00000371917	T	0.63744	-0.06	5.93	5.93	0.95920	Armadillo-type fold (1);	0.043215	0.85682	D	0.000000	T	0.74390	0.3710	M	0.84082	2.675	0.80722	D	1	P	0.52692	0.955	P	0.50231	0.635	T	0.79274	-0.1871	10	0.72032	D	0.01	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1690	Q9Y6D5	BIG2_HUMAN	R	1690	ENSP00000360985:C1690R	ENSP00000360985:C1690R	C	+	1	0	ARFGEF2	47081997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.708000	0.84633	2.263000	0.75096	0.533000	0.62120	TGC		0.383	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		28	258	0	0	0	1	0	28	258					C	47648590	T	C	47648590	3	2	330	1	0	0	0	0	1	0	0	0	853	1812	63	3	5218	3	ARFGEF2	20	47648590	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	4606181	47648590	15376930	28	32638											
ZNF831	128611	broad.mit.edu	37	chr20	57829214	57829214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggaacttttccccacCatgacattgctacctctgtg	6	14	1	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:57829214C>A	ENST00000371030.2	+	5	4450	c.4450C>A	c.(4450-4452)Cat>Aat	p.H1484N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1484							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)					TTTTCCCCACCATGACATTGC	0.493																																						ENST00000371030.2																			0				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						c.(4450-4452)Cat>Aat		zinc finger protein 831							84	87	86					20																	57829214		2013	4192	6205	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829214C>A	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.4450C>A	20.37:g.57829214C>A	ENSP00000360069:p.His1484Asn						p.H1484N	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4450	+	all_lung(29;0.0085)		1484					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4450C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497859	0.26861	.	.	ENSG00000124203	ENST00000371030	T	0.05025	3.51	5.9	1.65	0.23941	.	0.853808	0.10361	N	0.684009	T	0.06508	0.0167	L	0.50333	1.59	0.09310	N	1	B	0.27351	0.176	B	0.19391	0.025	T	0.36311	-0.9753	10	0.59425	D	0.04	-0.3182	4.6394	0.12541	0.147:0.4908:0.2842:0.0781	.	1484	Q5JPB2	ZN831_HUMAN	N	1484	ENSP00000360069:H1484N	ENSP00000360069:H1484N	H	+	1	0	ZNF831	57262609	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.052000	0.14163	0.077000	0.16863	0.650000	0.86243	CAT		0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	96	1	0	0.00909568	1	0.00909568	4	96					A	57829214	C	A	57829214	3	1	330	1	0	0	0	0	1	0	0	0	18182	594	21	4	4468	4	ZNF831	20	57829214	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	10180624	57829214	5196306	29	32639											
ACO2	50	broad.mit.edu	37	chr22	41919937	41919937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacccatgcctttgtcacgTccccagaggtgagactgccc	10	15	1	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr22:41919937T>C	ENST00000216254.4	+	12	1496	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	ACO2_ENST00000396512.3_Missense_Mutation_p.S517P	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	492					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTTGTCACGTCCCCAGAGGT	0.617																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(1549-1551)Tcc>Ccc		aconitase 2, mitochondrial							100	76	85					22																	41919937		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41919937T>C	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1474T>C	22.37:g.41919937T>C	ENSP00000216254:p.Ser492Pro					ACO2_ENST00000216254.4_Missense_Mutation_p.S492P	p.S517P			Q99798	ACON_HUMAN			12	1566	+			492	T -> K (in Ref. 1; AAB38416).				O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1549T>C	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278890	0.95489	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.64991	-0.13;-0.13	5.27	5.27	0.74061	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.89629	0.6770	H	0.99952	5.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.94620	0.7812	10	0.87932	D	0	.	15.4783	0.75504	0.0:0.0:0.0:1.0	.	517;492	A2A274;Q99798	.;ACON_HUMAN	P	213;473;492;517	ENSP00000216254:S492P;ENSP00000379769:S517P	ENSP00000216254:S492P	S	+	1	0	ACO2	40249883	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.658000	0.83755	2.124000	0.65301	0.482000	0.46254	TCC		0.617	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		13	12	0	0	0	1	0	13	12					C	41919937	T	C	41919937	3	2	330	1	0	0	0	0	1	0	0	0	147	1667	58	3	1520	3	ACO2	22	41919937	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08		41919937	9384629	30	32640											
PHKA2	5256	broad.mit.edu	37	chrX	18913286	18913286	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaggatgggaggacataAccatcgatggagagaccgtg	16	7	0	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:18913286A>T	ENST00000379942.4	-	31	3971	c.3306T>A	c.(3304-3306)ggT>ggA	p.G1102G	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1102					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)					GGAGGACATAACCATCGATGG	0.537																																						ENST00000379942.4																			0				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						c.(3304-3306)ggT>ggA		phosphorylase kinase, alpha 2 (liver)							186	147	161					X																	18913286		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18913286A>T		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.3306T>A	X.37:g.18913286A>T						PHKA2_ENST00000481718.1_5'UTR	p.G1102G	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			31	3971	-	Hepatocellular(33;0.183)		1102					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3306T>A	CCDS14190.1																																																																																				0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		19	45	0	0	0	1	0	19	45					T	18913286	A	T	18913286	2	4	330	1	0	0	0	0	0	0	0	1	11844	30	2	5		5	PHKA2	23	18913286	Silent	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		18913286	136357274	31	32641											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctgcttcttaggaagtcGatctcttaattccatgatgg	9	8	2	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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						TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)|p.R907*(1)	lung(1)|bone(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						c.(2719-2721)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						189	173	179					X																	76938029		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938029G>A	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.2719C>T	X.37:g.76938029G>A	ENSP00000362441:p.Arg907*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	p.R907*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2933	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2719C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.819821	0.98507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	0.503	0.16940	.	2.134250	0.02681	N	0.109696	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	10.841	4.5137	0.11924	0.0688:0.1999:0.2703:0.461	.	.	.	.	X	907;869;834	.	ENSP00000362441:R907X	R	-	1	2	ATRX	76824685	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-0.689000	0.05144	-0.111000	0.12001	0.513000	0.50165	CGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		139	28	0	0	0	1	0	139	28					A	76938029	G	A	76938029	4	1	330	1	0	0	0	0	0	1	0	0	1208	1066	37	1	4867	1	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	58024743	76938029	78332531	32	32642											
DNAJC6	9829	broad.mit.edu	37	chr1	65871611	65871611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgggtggaggattcccGcctctcagctcgccacagaa	13	12	1	1	rs367640667		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:65871611G>A	ENST00000395325.3	+	16	2272	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	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						GAGGATTCCCGCCTCTCAGCT	0.537																																						ENST00000395325.3																			0				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						c.(2113-2115)ccG>ccA		DnaJ (Hsp40) homolog, subfamily C, member 6		G		1,4405		0,1,2202	46	51	49		2115	-10	0.8	1		49	0,8600		0,0,4300	no	coding-synonymous	DNAJC6	NM_014787.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		705/914	65871611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65871611G>A	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.2115G>A	1.37:g.65871611G>A						DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P	p.P705P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN			16	2272	+			705			Pro-rich.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	37	c.2115G>A	CCDS30739.1																																																																																				0.537	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			19	6	0	0	0	1	0	19	6					A	65871611	G	A	65871611	2	1	331	1	0	0	0	0	0	0	0	1	4653	1074	38	1		1	DNAJC6	1	65871611	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		65871611	183379010	1	32643											
CELSR2	1952	broad.mit.edu	37	chr1	109815272	109815272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctagggaggagtccGcactgaaccctggccaaggg	13	12	1	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:109815272G>A	ENST00000271332.3	+	30	8126	c.8065G>A	c.(8065-8067)Gca>Aca	p.A2689T	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2689					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)		GGAGGAGTCCGCACTGAACCC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(8065-8067)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 2							26	30	28					1																	109815272		2203	4299	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815272G>A	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.8065G>A	1.37:g.109815272G>A	ENSP00000271332:p.Ala2689Thr					CELSR2_ENST00000498157.1_3'UTR	p.A2689T	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	30	8126	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2689					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8065G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	5.739	0.320716	0.10845	.	.	ENSG00000143126	ENST00000271332	T	0.66280	-0.2	5.18	5.18	0.71444	.	.	.	.	.	T	0.21468	0.0517	N	0.24115	0.695	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	9	0.17369	T	0.5	.	6.5066	0.22198	0.7667:0.0:0.2333:0.0	.	2689	Q9HCU4	CELR2_HUMAN	T	2689	ENSP00000271332:A2689T	ENSP00000271332:A2689T	A	+	1	0	CELSR2	109616795	0.052000	0.20516	0.997000	0.53966	0.980000	0.70556	1.732000	0.38146	0.829000	0.34733	-0.361000	0.07541	GCA		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	23	0	0	0	1	0	3	23					A	109815272	G	A	109815272	3	1	331	1	0	0	0	0	1	0	0	0	3222	1087	38	1	8183	1	CELSR2	1	109815272	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	43943661	109815272	139435349	2	32644											
PTGFRN	5738	broad.mit.edu	37	chr1	117487361	117487361	+	Frame_Shift_Del	DEL	G	G	-													cccgccgagcctgagcctgcGggagggggagcccttcgagc							TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:117487361delG	ENST00000393203.2	+	3	626	c.479delG	c.(478-480)cggfs	p.R160fs		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	160	Ig-like C2-type 2.				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)		CTGAGCCTGCGGGAGGGGGAG	0.751																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(478-480)cgfs		prostaglandin F2 receptor inhibitor							4	5	5					1																	117487361		1469	3326	4795	SO:0001589	frameshift_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117487361delG	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.479delG	1.37:g.117487361delG	ENSP00000376899:p.Arg160fs						p.R160fs	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	3	626	+	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)	160			Ig-like C2-type 2.		Q5VVU9|Q8N2K6	Frame_Shift_Del	DEL	ENST00000393203.2	37	c.479delG	CCDS890.1																																																																																				0.751	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		2	4						2	4	---	---	---	---	-	117487361	G	-	117487361	7	5	331	1	0	1	0	1	0	0	0	0	12750	1116	39	0	489	0	PTGFRN	1	117487361	Frame_Shift_Del	DEL	G	TCGA-HT-A74K-01A-11D-A32B-08	7672089	117487361	131763260	3	32645											
OR10R2	343406	broad.mit.edu	37	chr1	158450457	158450457	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgttttccacctgcgcctctCacctcagtgttgttattgtt	7	13	2	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:158450457C>T	ENST00000368152.1	+	1	790	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	264						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(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGCGCCTCTCACCTCAGTGT	0.478																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(790-792)Cac>Tac		olfactory receptor, family 10, subfamily R, member 2							210	171	184					1																	158450457		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450457C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.790C>T	1.37:g.158450457C>T	ENSP00000357134:p.His264Tyr					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.H264Y	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	790	+	all_hematologic(112;0.0378)		264					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.790C>T	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939612	0.73557	.	.	ENSG00000198965	ENST00000368152	T	0.00314	8.14	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00524	0.0017	H	0.95745	3.715	0.40887	D	0.984047	D	0.54207	0.965	P	0.59643	0.861	T	0.52601	-0.8554	9	0.72032	D	0.01	.	15.4945	0.75637	0.0:1.0:0.0:0.0	.	264	Q8NGX6	O10R2_HUMAN	Y	264	ENSP00000357134:H264Y	ENSP00000357134:H264Y	H	+	1	0	OR10R2	156717081	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	6.907000	0.75724	2.135000	0.66039	0.655000	0.94253	CAC		0.478	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		22	39	0	0	0	1	0	22	39					T	158450457	C	T	158450457	3	4	331	1	0	0	0	0	1	0	0	0	10917	826	29	2	792	2	OR10R2	1	158450457	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	40963096	158450457	90800164	4	32646											
ITLN1	55600	broad.mit.edu	37	chr1	160851959	160851959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagaaggtctggtagaTaacaccattctcagtgcgga	11	9	3	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:160851959T>C	ENST00000326245.3	-	4	308	c.193A>G	c.(193-195)Atc>Gtc	p.I65V	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	65	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTCTGGTAGATAACACCATTC	0.577																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(193-195)Atc>Gtc		intelectin 1 (galactofuranose binding)							86	75	79					1																	160851959		2203	4300	6503	SO:0001583	missense	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851959T>C	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.193A>G	1.37:g.160851959T>C	ENSP00000323587:p.Ile65Val						p.I65V	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	308	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		65			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	c.193A>G	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.674156	0.00758	.	.	ENSG00000179914	ENST00000326245	T	0.16073	2.37	4.17	-4.14	0.03892	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.147120	0.06594	N	0.752514	T	0.02156	0.0067	N	0.16233	0.39	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45145	-0.9281	10	0.11794	T	0.64	-2.0297	7.7063	0.28653	0.1361:0.5298:0.0:0.3341	.	65	Q8WWA0	ITLN1_HUMAN	V	65	ENSP00000323587:I65V	ENSP00000323587:I65V	I	-	1	0	ITLN1	159118583	0.002000	0.14202	0.069000	0.20011	0.679000	0.39708	-0.496000	0.06436	-0.770000	0.04614	-1.150000	0.01838	ATC		0.577	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		4	37	0	0	0	1	0	4	37					C	160851959	T	C	160851959	3	2	331	1	0	0	0	0	1	0	0	0	7910	1406	49	3	768	3	ITLN1	1	160851959	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	2401502	160851959	88398662	5	32647											
RASAL2	9462	broad.mit.edu	37	chr1	178427644	178427644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagagccctgttcccAaagttagagcaatccagaga	10	11	0	4			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:178427644A>G	ENST00000462775.1	+	12	2919	c.2794A>G	c.(2794-2796)Aaa>Gaa	p.K932E	RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000448150.3_Missense_Mutation_p.K1062E	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	932					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						CCCTGTTCCCAAAGTTAGAGC	0.562																																						ENST00000448150.3																			0				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						c.(3184-3186)Aaa>Gaa		RAS protein activator like 2							62	67	66					1																	178427644		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427644A>G	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.2794A>G	1.37:g.178427644A>G	ENSP00000420558:p.Lys932Glu					RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000462775.1_Missense_Mutation_p.K932E	p.K1062E	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	4002	+			932					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.3184A>G	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.56|19.56	3.851422|3.851422	0.71719|0.71719	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.12465|.	2.68;2.68;2.68|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.321147|.	0.33813|.	N|.	0.004530|.	T|T	0.51244|0.51244	0.1663|0.1663	N|N	0.19112|0.19112	0.55|0.55	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D|.	0.69078|.	0.997;0.975;0.996|.	D;P;D|.	0.80764|.	0.994;0.843;0.987|.	T|T	0.48636|0.48636	-0.9018|-0.9018	10|5	0.49607|.	T|.	0.09|.	.|.	15.5468|15.5468	0.76108|0.76108	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1062;932;1073|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	E|R	1062;1073;932|482	ENSP00000407768:K1062E;ENSP00000356621:K1073E;ENSP00000420558:K932E|.	ENSP00000356621:K1073E|.	K|Q	+|+	1|2	0|0	RASAL2|RASAL2	176694267|176694267	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.603000|6.603000	0.74145|0.74145	2.061000|2.061000	0.61500|0.61500	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.562	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		22	35	0	0	0	1	0	22	35					G	178427644	A	G	178427644	3	3	331	1	0	0	0	0	1	0	0	0	13064	131	5	3	3309	3	RASAL2	1	178427644	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	17575685	178427644	70822977	6	32648											
DISP1	84976	broad.mit.edu	37	chr1	223178729	223178729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgtgcaccccatcacGcacatccaccactgtccctg	7	18	1	0	rs370266646		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:223178729G>A	ENST00000284476.6	+	8	4154	c.3990G>A	c.(3988-3990)acG>acA	p.T1330T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1330					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T1330T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCATCACGCACATCCACC	0.557																																						ENST00000284476.6																			1	Substitution - coding silent(1)	p.T1330T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3988-3990)acG>acA		dispatched homolog 1 (Drosophila)							62	57	58					1																	223178729		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178729G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3990G>A	1.37:g.223178729G>A							p.T1330T	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4154	+			1330					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.3990G>A	CCDS1536.1																																																																																				0.557	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	38	0	0	0	1	0	8	38					A	223178729	G	A	223178729	2	1	331	1	0	0	0	0	0	0	0	1	4539	1074	38	1		1	DISP1	1	223178729	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	44751085	223178729	26071892	7	32649											
OBSCN	84033	broad.mit.edu	37	chr1	228511247	228511247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagacatgggcgtctacCgctgcctggccgagaacagc	13	14	1	2	rs373582245		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:228511247C>T	ENST00000422127.1	+	56	15636	c.15592C>T	c.(15592-15594)Cgc>Tgc	p.R5198C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6155C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5198	Ig-like 49.				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)				GGGCGTCTACCGCTGCCTGGC	0.572																																						ENST00000570156.2																			0				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						c.(18463-18465)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	CYS/ARG,CYS/ARG	1,4357		0,1,2178	71	75	73		15592,15592	5.4	1	1		73	0,8550		0,0,4275	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,1,6453	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging,probably-damaging	5198/7969,5198/6621	228511247	1,12907	2179	4275	6454	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228511247C>T	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.15592C>T	1.37:g.228511247C>T	ENSP00000409493:p.Arg5198Cys					OBSCN_ENST00000422127.1_Missense_Mutation_p.R5198C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C	p.R6155C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			67	18537	+		Prostate(94;0.0405)	5198			Ig-like 53.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18463C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002265	0.93227	2.29E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.45308	-0.9270	10	0.62326	D	0.03	.	14.2492	0.66009	0.1488:0.8512:0.0:0.0	.	5198;5198	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5198;5198;2832;2317	ENSP00000284548:R5198C;ENSP00000409493:R5198C;ENSP00000355668:R2832C;ENSP00000355670:R2317C	ENSP00000284548:R5198C	R	+	1	0	OBSCN	226577870	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.721000	0.68477	2.808000	0.96608	0.655000	0.94253	CGC		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	5	0	0	0	1	0	7	5					T	228511247	C	T	228511247	3	4	331	1	0	0	0	0	1	0	0	0	10812	652	23	1	15810	1	OBSCN	1	228511247	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	5332518	228511247	20739374	8	32650											
OR2T3	343173	broad.mit.edu	37	chr1	248637377	248637377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccggccacaggaaggcCttggccacctgctcctccca	11	19	0	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:248637377C>T	ENST00000359594.2	+	1	751	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	242						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACAGGAAGGCCTTGGCCACCT	0.567																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(724-726)gcC>gcT		olfactory receptor, family 2, subfamily T, member 3							198	166	177					1																	248637377		2203	4300	6503	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637377C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.726C>T	1.37:g.248637377C>T							p.A242A	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	751	+	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)		242					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.726C>T	CCDS31117.1																																																																																				0.567	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		79	108	0	0	0	1	0	79	108					T	248637377	C	T	248637377	2	4	331	1	0	0	0	0	0	0	0	1	11023	668	24	2		2	OR2T3	1	248637377	Silent	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	20126130	248637377	613244	9	32651											
MSGN1	343930	broad.mit.edu	37	chr2	17998326	17998326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcggggaactcacagacCtccttaaccgcggcagagag	11	13	1	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:17998326C>A	ENST00000281047.3	+	1	564	c.541C>A	c.(541-543)Ctc>Atc	p.L181I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	181					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTCACAGACCTCCTTAACCG	0.577																																					Melanoma(127;325 1712 14802 40657 49130)	ENST00000281047.3																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11						c.(541-543)Ctc>Atc		mesogenin 1							39	43	41					2																	17998326		2043	4192	6235	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998326C>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.541C>A	2.37:g.17998326C>A	ENSP00000281047:p.Leu181Ile						p.L181I	NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN			1	564	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		181						Missense_Mutation	SNP	ENST00000281047.3	37	c.541C>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555088	0.45487	.	.	ENSG00000151379	ENST00000281047	D	0.97665	-4.48	5.97	5.97	0.96955	Helix-loop-helix DNA-binding (3);	0.121240	0.56097	D	0.000034	D	0.92061	0.7484	N	0.12746	0.255	0.49483	D	0.999796	P	0.48503	0.911	B	0.36766	0.232	D	0.91094	0.4909	10	0.21540	T	0.41	-21.4726	20.428	0.99075	0.0:1.0:0.0:0.0	.	181	A6NI15	MSGN1_HUMAN	I	181	ENSP00000281047:L181I	ENSP00000281047:L181I	L	+	1	0	MSGN1	17861807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.864000	0.48404	2.837000	0.97791	0.655000	0.94253	CTC		0.577	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		21	22	1	0	0.00229938	1	0.0023463	21	22					A	17998326	C	A	17998326	3	1	331	1	0	0	0	0	1	0	0	0	9869	681	24	4	543	4	MSGN1	2	17998326	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		17998326	225201047	10	32652											
DYSF	8291	broad.mit.edu	37	chr2	71871141	71871141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaattctttgcctccatagGggagagggaaaagtgcggct	13	8	1	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:71871141G>A	ENST00000258104.3	+	41	4734	c.4457G>A	c.(4456-4458)gGg>gAg	p.G1486E	DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1486					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTCCATAGGGGAGAGGGAA	0.512																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4456-4458)gGg>gAg		dysferlin							100	77	85					2																	71871141		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71871141G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4457G>A	2.37:g.71871141G>A	ENSP00000258104:p.Gly1486Glu					DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E	p.G1486E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			41	4734	+			1486					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4457G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211453	0.95069	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.74;-1.75;-1.66;-1.65;-1.75;-1.74;-1.75;-1.65;-1.65;-1.66;-1.75	6.06	6.06	0.98353	.	0.101639	0.64402	D	0.000002	D	0.90584	0.7048	M	0.73372	2.23	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;P;B;D;D;D	0.89917	0.973;1.0;1.0;1.0;1.0;0.992;0.992;0.992;0.963;1.0;0.794;0.357;1.0;1.0;1.0	P;D;D;D;D;P;P;P;P;D;P;B;D;D;D	0.97110	0.84;1.0;1.0;1.0;1.0;0.903;0.903;0.903;0.845;1.0;0.618;0.237;1.0;1.0;1.0	D	0.88921	0.3366	10	0.40728	T	0.16	-39.2375	18.1147	0.89549	0.0:0.0:1.0:0.0	.	250;1518;1525;1508;1473;1504;1494;1503;1493;1517;1524;1507;1472;1487;1486	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	E	1517;1503;1524;1507;1486;1518;1487;1494;1508;1525;1504	ENSP00000407046:G1517E;ENSP00000387137:G1503E;ENSP00000386547:G1524E;ENSP00000398305:G1507E;ENSP00000258104:G1486E;ENSP00000386683:G1518E;ENSP00000377678:G1487E;ENSP00000386285:G1494E;ENSP00000386512:G1508E;ENSP00000386881:G1525E;ENSP00000386617:G1504E	ENSP00000258104:G1486E	G	+	2	0	DYSF	71724649	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	8.502000	0.90505	2.882000	0.98803	0.655000	0.94253	GGG		0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		4	9	0	0	0	1	0	4	9					A	71871141	G	A	71871141	3	1	331	1	0	0	0	0	1	0	0	0	4859	1232	43	2	4878	2	DYSF	2	71871141	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	53872815	71871141	171328232	11	32653											
DCTN1	1639	broad.mit.edu	37	chr2	74595107	74595107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtcacttactgctcatagCggtgtagcgtggcctgcagc	13	11	2	0	rs140523637		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:74595107C>T	ENST00000361874.3	-	17	2323	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	669					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						CTGCTCATAGCGGTGTAGCGT	0.617																																						ENST00000361874.3																			0				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						c.(2005-2007)cGc>cAc		dynactin 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58	56	56		1946,1604,1895,1985,2006,1604	5.2	1	2	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	649/1254,535/1140,632/1237,662/1272,669/1279,535/1145	74595107	1,13005	2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595107C>T		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.2006G>A	2.37:g.74595107C>T	ENSP00000354791:p.Arg669His					DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H	p.R669H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			17	2323	-			669					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2006G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120329	0.37436	2.27E-4	0.0	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.25	5.25	0.73442	.	0.000000	0.43260	D	0.000583	T	0.74329	0.3702	N	0.12182	0.205	0.46849	D	0.999222	B;B;D;P;P;D	0.55385	0.168;0.162;0.971;0.462;0.532;0.964	B;B;P;B;B;B	0.46585	0.021;0.021;0.521;0.16;0.045;0.386	T	0.75468	-0.3307	10	0.51188	T	0.08	-5.8753	7.8051	0.29198	0.0:0.8313:0.0:0.1687	.	649;632;669;662;535;535	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	H	669;662;652;535;535;632;652;649	ENSP00000354791:R669H;ENSP00000377571:R662H;ENSP00000384844:R535H;ENSP00000387270:R535H;ENSP00000386406:R632H;ENSP00000387327:R652H;ENSP00000386843:R649H	ENSP00000354791:R669H	R	-	2	0	DCTN1	74448615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.796000	0.55507	2.717000	0.92951	0.655000	0.94253	CGC		0.617	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		7	24	0	0	0	1	0	7	24					T	74595107	C	T	74595107	3	4	331	1	0	0	0	0	1	0	0	0	4306	768	27	1	1894	1	DCTN1	2	74595107	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	2723966	74595107	168604266	12	32654											
DPP4	1803	broad.mit.edu	37	chr2	162881325	162881325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaccactaagcagtTccatcttccactggattcat	5	14	3	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:162881325T>C	ENST00000360534.3	-	11	1572	c.1012A>G	c.(1012-1014)Aac>Gac	p.N338D		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	338					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACTAAGCAGTTCCATCTTCCA	0.463																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1012-1014)Aac>Gac		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						223	199	207					2																	162881325		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162881325T>C	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1012A>G	2.37:g.162881325T>C	ENSP00000353731:p.Asn338Asp						p.N338D	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			11	1572	-			338					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1012A>G	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273929	0.23221	.	.	ENSG00000197635	ENST00000360534	D	0.95756	-3.8	5.47	1.67	0.24075	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.556905	0.19558	N	0.111397	D	0.84547	0.5496	N	0.11756	0.17	0.24846	N	0.992438	B	0.02656	0.0	B	0.01281	0.0	T	0.70124	-0.4958	10	0.08381	T	0.77	-27.5459	1.8695	0.03205	0.1315:0.1509:0.1364:0.5812	.	338	P27487	DPP4_HUMAN	D	338	ENSP00000353731:N338D	ENSP00000353731:N338D	N	-	1	0	DPP4	162589571	0.027000	0.19231	0.267000	0.24556	0.952000	0.60782	-0.024000	0.12435	0.356000	0.24157	0.533000	0.62120	AAC		0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			84	113	0	0	0	1	0	84	113					C	162881325	T	C	162881325	3	2	331	1	0	0	0	0	1	0	0	0	4729	1783	62	3	1352	3	DPP4	2	162881325	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	88286218	162881325	80318048	13	32655											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	44	0	0	0	1	0	20	44					T	209113112	C	T	209113112	3	4	331	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	46231787	209113112	34086261	14	32656											
C2orf67	151050	broad.mit.edu	37	chr2	211019256	211019256	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactccatggtacttggcaaAgatgaaaagctgataccctt	9	9	0	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:211019256A>G	ENST00000281772.9	-	2	314	c.51T>C	c.(49-51)tcT>tcC	p.S17S	KANSL1L_ENST00000452086.1_Silent_p.S17S|KANSL1L_ENST00000457374.1_Silent_p.S17S|KANSL1L_ENST00000418791.1_Silent_p.S17S|KANSL1L_ENST00000429908.2_5'UTR	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	17						histone acetyltransferase complex (GO:0000123)											TACTTGGCAAAGATGAAAAGC	0.423																																						ENST00000281772.9																			0											c.(49-51)tcT>tcC		KAT8 regulatory NSL complex subunit 1-like							70	69	69					2																	211019256		2203	4300	6503	SO:0001819	synonymous_variant	151050							g.chr2:211019256A>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.51T>C	2.37:g.211019256A>G						KANSL1L_ENST00000452086.1_Silent_p.S17S|KANSL1L_ENST00000418791.1_Silent_p.S17S|KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000457374.1_Silent_p.S17S	p.S17S	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	314	-			17					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	c.51T>C	CCDS33370.1																																																																																				0.423	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		5	94	0	0	0	1	0	5	94					G	211019256	A	G	211019256	2	3	331	1	0	0	0	0	0	0	0	1	2186	59	3	3		3	C2orf67	2	211019256	Silent	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	1906144	211019256	32180117	15	32657											
OR5AC2	81050	broad.mit.edu	37	chr3	97806631	97806631	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgatatttatttttggTgcttttatacaaatacccac	4	7	0	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:97806631T>A	ENST00000358642.2	+	1	615	c.615T>A	c.(613-615)ggT>ggA	p.G205G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	205					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(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTATTTTTGGTGCTTTTATAC	0.299																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(613-615)ggT>ggA		olfactory receptor, family 5, subfamily AC, member 2							39	41	41					3																	97806631		2203	4299	6502	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806631T>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"GPCR / Class A : Olfactory receptors"	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.615T>A	3.37:g.97806631T>A							p.G205G	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	615	+			205						Silent	SNP	ENST00000358642.2	37	c.615T>A	CCDS33796.1																																																																																				0.299	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			17	19	0	0	0	1	0	17	19					A	97806631	T	A	97806631	2	1	331	1	0	0	0	0	0	0	0	1	11141	1683	59	5		5	OR5AC2	3	97806631	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		97806631	100215799	16	32658											
NDUFB5	4711	broad.mit.edu	37	chr3	179336258	179336258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtcctgaaaagatatAtgaaagaacaatggccgtcc	9	7	0	5			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:179336258A>G	ENST00000259037.3	+	5	512	c.398A>G	c.(397-399)tAt>tGt	p.Y133C	NDUFB5_ENST00000493866.1_Missense_Mutation_p.Y81C|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	133			Y -> H (in dbSNP:rs4147793).		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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GAAAAGATATATGAAAGAACA	0.378																																						ENST00000493866.1																			0				endometrium(1)|lung(6)|skin(1)	8						c.(241-243)tAt>tGt		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						80	80	80					3																	179336258		2203	4300	6503	SO:0001583	missense	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179336258A>G	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"Mitochondrial respiratory chain complex / Complex I"	7700	protein-coding gene	gene with protein product	"complex I SGDH subunit"	603841	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.398A>G	3.37:g.179336258A>G	ENSP00000259037:p.Tyr133Cys					NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C|NDUFB5_ENST00000259037.3_Missense_Mutation_p.Y133C	p.Y81C	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		3	267	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		133					Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	c.242A>G	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.23|14.23	2.472967|2.472967	0.43942|0.43942	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.63255	.|-0.03;-0.03;-0.03	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82907|0.82907	0.5139|0.5139	M|M	0.90198|0.90198	3.095|3.095	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	0.86477|0.86477	0.1789|0.1789	5|10	.|0.87932	.|D	.|0	-14.082|-14.082	15.4432|15.4432	0.75204|0.75204	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|81;133	.|Q561V6;O43674	.|.;NDUB5_HUMAN	V|C	150|133;81;121	.|ENSP00000259037:Y133C;ENSP00000419656:Y81C;ENSP00000419248:Y121C	.|ENSP00000259037:Y133C	M|Y	+|+	1|2	0|0	NDUFB5|NDUFB5	180818952|180818952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.031000|0.031000	0.12232|0.12232	6.599000|6.599000	0.74127|0.74127	2.284000|2.284000	0.76573|0.76573	0.523000|0.523000	0.50628|0.50628	ATG|TAT		0.378	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		9	25	0	0	0	1	0	9	25					G	179336258	A	G	179336258	3	3	331	1	0	0	0	0	1	0	0	0	10284	449	16	3	416	3	NDUFB5	3	179336258	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	81529627	179336258	18686172	17	32659											
UGT2B15	7367	broad.mit.edu	37	chr4	69433683	69433683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagccaacagagaagcGgagactgtacagaaagggta	14	6	0	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr4:69433683G>A	ENST00000317746.2	-	1	562	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	174					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ACAGAGAAGCGGAGACTGTAC	0.438																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(520-522)Cgc>Tgc		UDP glucuronosyltransferase 2 family, polypeptide B17							162	156	158					4																	69433683		2090	3955	6045	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69433683G>A	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.520C>T	4.37:g.69433683G>A	ENSP00000320401:p.Arg174Cys						p.R174C	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			1	562	-			174						Missense_Mutation	SNP	ENST00000317746.2	37	c.520C>T	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	g	12.04	1.817464	0.32145	.	.	ENSG00000197888	ENST00000317746	T	0.64803	-0.12	2.66	2.66	0.31614	.	0.000000	0.64402	U	0.000011	T	0.75148	0.3810	M	0.90309	3.105	0.34313	D	0.685627	.	.	.	.	.	.	T	0.82309	-0.0521	8	0.72032	D	0.01	.	6.9257	0.24414	0.0:0.0:0.726:0.274	.	.	.	.	C	174	ENSP00000320401:R174C	ENSP00000320401:R174C	R	-	1	0	UGT2B17	69116278	0.988000	0.35896	0.006000	0.13384	0.010000	0.07245	2.813000	0.48002	1.516000	0.48900	0.499000	0.49734	CGC		0.438	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		10	180	0	0	0	1	0	10	180					A	69433683	G	A	69433683	3	1	331	1	0	0	0	0	1	0	0	0	16955	1116	39	1	1096	1	UGT2B15	4	69433683	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		69433683	121720593	18	32660											
NPR3	4883	broad.mit.edu	37	chr5	32724855	32724855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagcatcatgctggtggCgcacaggcatggcatgacca	14	12	1	1	rs374966067		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:32724855C>T	ENST00000265074.8	+	2	1164	c.821C>T	c.(820-822)gCg>gTg	p.A274V	NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000434067.2_Missense_Mutation_p.A58V|NPR3_ENST00000415167.2_Missense_Mutation_p.A274V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	274					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATGCTGGTGGCGCACAGGCAT	0.532																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(820-822)gCg>gTg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)	C	VAL/ALA,VAL/ALA,VAL/ALA	1,4397	2.1+/-5.4	0,1,2198	191	195	194		821,821,173	3.2	0.1	5		194	0,8588		0,0,4294	no	missense,missense,missense	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	64,64,64	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	274/541,274/542,58/325	32724855	1,12985	2199	4294	6493	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724855C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.821C>T	5.37:g.32724855C>T	ENSP00000265074:p.Ala274Val					NPR3_ENST00000415167.2_Missense_Mutation_p.A274V|NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000434067.2_Missense_Mutation_p.A58V	p.A274V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			2	1164	+			274					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.821C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671021	0.47781	2.27E-4	0.0	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13	5.37	3.19	0.36642	Extracellular ligand-binding receptor (1);	0.099013	0.64402	N	0.000002	D	0.88514	0.6457	M	0.89534	3.04	0.42570	D	0.993179	D;P;P;P	0.57899	0.981;0.863;0.94;0.94	P;B;B;B	0.44394	0.448;0.173;0.174;0.174	D	0.85830	0.1391	10	0.35671	T	0.21	-8.7072	9.551	0.39310	0.0:0.7958:0.0:0.2042	.	58;58;274;274	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	V	51;58;58;274;274	ENSP00000425325:A51V;ENSP00000388408:A58V;ENSP00000402490:A58V;ENSP00000265074:A274V;ENSP00000398028:A274V	ENSP00000265074:A274V	A	+	2	0	NPR3	32760612	1.000000	0.71417	0.074000	0.20217	0.536000	0.34869	4.059000	0.57470	0.383000	0.24910	0.655000	0.94253	GCG		0.532	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		23	25	0	0	0	1	0	23	25					T	32724855	C	T	32724855	3	4	331	1	0	0	0	0	1	0	0	0	10596	768	27	1	827	1	NPR3	5	32724855	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		32724855	148190405	19	32661											
PIK3R1	5295	broad.mit.edu	37	chr5	67589156	67589158	+	In_Frame_Del	DEL	AAA	AAA	-													ggggaaataacaaattaatcAaaatatttcatcgagatggg							TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:67589156_67589158delAAA	ENST00000521381.1	+	10	1760_1762	c.1144_1146delAAA	c.(1144-1146)aaadel	p.K382del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	382	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)	CAAATTAATCAAAATATTTCATC	0.32			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(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						c.(1144-1146)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589156_67589158delAAA	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.1144_1146delAAA	5.37:g.67589156_67589158delAAA	ENSP00000428056:p.Lys382del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del	p.K382del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1760_1762	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	382			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1144_1146delAAA	CCDS3993.1																																																																																				0.32	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		32	84						32	84	---	---	---	---	-	67589158	AAA	-	67589156	7	5	331	1	0	1	0	1	0	0	0	0	11918	131	5	0	1308	0	PIK3R1	5	67589156	In_Frame_Del	DEL	AAA	TCGA-HT-A74K-01A-11D-A32B-08	34864301	67589156	113326104	20	32662											
HUS1B	135458	broad.mit.edu	37	chr6	656483	656483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcaggcggatgctcgcGtcggaggcgcgcaggctggg	21	12	0	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:656483G>A	ENST00000380907.2	-	1	480	c.462C>T	c.(460-462)gaC>gaT	p.D154D	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	154					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGATGCTCGCGTCGGAGGCGC	0.701																																						ENST00000380907.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(460-462)gaC>gaT		HUS1 checkpoint homolog b (S. pombe)							42	47	45					6																	656483		2188	4257	6445	SO:0001819	synonymous_variant	135458							g.chr6:656483G>A	AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"HUS1 (S. pombe) checkpoint homolog b"			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.462C>T	6.37:g.656483G>A						EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	p.D154D	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)	1	480	-	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	154					Q5T4Z2	Silent	SNP	ENST00000380907.2	37	c.462C>T	CCDS4470.1																																																																																				0.701	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959		18	57	0	0	0	1	0	18	57					A	656483	G	A	656483	2	1	331	1	0	0	0	0	0	0	0	1	7460	1136	40	1		1	HUS1B	6	656483	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		656483	170458584	21	32663											
PHF3	23469	broad.mit.edu	37	chr6	64404570	64404570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggacaaccagttttacctCggagatcctcagaagaaaaa	9	9	1	3	rs139681301		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:64404570C>T	ENST00000262043.3	+	6	2936	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	PHF3_ENST00000393387.1_Missense_Mutation_p.R866W			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R866R(1)		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)			AGTTTTACCTCGGAGATCCTC	0.403																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			1	Substitution - coding silent(1)	p.R866R(1)	lung(1)	breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2596-2598)Cgg>Tgg		PHD finger protein 3		C	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	92	104	100		2596	3.5	1	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PHF3	NM_015153.2	101	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	866/2040	64404570	2,13002	2202	4300	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404570C>T	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.2596C>T	6.37:g.64404570C>T	ENSP00000262043:p.Arg866Trp					PHF3_ENST00000393387.1_Missense_Mutation_p.R866W	p.R866W			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2936	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		866					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2596C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876055	0.51695	2.27E-4	1.16E-4	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.50548	1.92;1.63;0.74;2.04;0.95;2.04	5.33	3.46	0.39613	.	0.000000	0.33753	N	0.004590	T	0.46502	0.1396	M	0.63428	1.95	0.41892	D	0.990379	D	0.76494	0.999	P	0.58970	0.849	T	0.49643	-0.8918	10	0.56958	D	0.05	-10.3898	9.9707	0.41752	0.1564:0.6932:0.1505:0.0	.	866	Q92576	PHF3_HUMAN	W	680;778;135;866;819;866	ENSP00000424694:R680W;ENSP00000425227:R778W;ENSP00000425338:R135W;ENSP00000262043:R866W;ENSP00000424078:R819W;ENSP00000377048:R866W	ENSP00000262043:R866W	R	+	1	2	PHF3	64462529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.162000	0.50755	0.665000	0.31066	0.555000	0.69702	CGG		0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			6	168	0	0	0	1	0	6	168					T	64404570	C	T	64404570	3	4	331	1	0	0	0	0	1	0	0	0	11836	875	31	1	2614	1	PHF3	6	64404570	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	63748087	64404570	106710497	22	32664											
VGLL2	245806	broad.mit.edu	37	chr6	117593623	117593623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttggtttgcagctcgtcGttattccctctgtggtgcat	10	10	2	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:117593623G>A	ENST00000326274.5	+	4	1110	c.920G>A	c.(919-921)cGt>cAt	p.R307H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	307					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGCTCGTCGTTATTCCCTC	0.532																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(919-921)cGt>cAt		vestigial like 2 (Drosophila)							513	433	461					6																	117593623		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117593623G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.920G>A	6.37:g.117593623G>A	ENSP00000320957:p.Arg307His					VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H	p.R307H	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	4	1110	+			307					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.920G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808434	0.50421	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.53423	0.62	4.7	3.82	0.43975	.	0.232872	0.37669	N	0.001999	T	0.28896	0.0717	L	0.54323	1.7	0.46981	D	0.999279	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31641	-0.9936	10	0.66056	D	0.02	-2.0266	13.1015	0.59222	0.0783:0.0:0.9217:0.0	.	133;307	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	H	133;307	ENSP00000320957:R307H	ENSP00000320957:R307H	R	+	2	0	VGLL2	117700316	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	6.928000	0.75846	1.317000	0.45149	0.561000	0.74099	CGT		0.532	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		102	206	0	0	0	1	0	102	206					A	117593623	G	A	117593623	3	1	331	1	0	0	0	0	1	0	0	0	17156	1145	40	1	934	1	VGLL2	6	117593623	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	53189053	117593623	53521444	23	32665											
ECT2L	345930	broad.mit.edu	37	chr6	139186182	139186182	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaaaggccccctcttccatCtacttctgcgaatcgaagct	8	14	3	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:139186182C>G	ENST00000423192.1	+	11	1502	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	447							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						CCTCTTCCATCTACTTCTGCG	0.453			"N, Splice, Mis"		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				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						c.(1339-1341)atC>atG		epithelial cell transforming sequence 2 oncogene-like							77	75	75					6																	139186182		1863	4093	5956	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139186182C>G		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.1341C>G	6.37:g.139186182C>G	ENSP00000387388:p.Ile447Met					ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M|ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M|ECT2L_ENST00000495970.1_3'UTR	p.I447M			Q008S8	ECT2L_HUMAN			11	1502	+			447					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1341C>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879231	0.17395	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75589	0.16;0.16;-0.95	5.18	4.3	0.51218	.	0.889901	0.08892	U	0.878547	T	0.60495	0.2273	L	0.57536	1.79	0.25838	N	0.984087	P;B	0.35628	0.513;0.379	B;B	0.37422	0.249;0.157	T	0.55186	-0.8180	10	0.42905	T	0.14	0.0385	11.8222	0.52245	0.0:0.9114:0.0:0.0886	.	378;447	F5H7S9;Q008S8	.;ECT2L_HUMAN	M	447;447;378	ENSP00000387388:I447M;ENSP00000356655:I447M;ENSP00000442307:I378M	ENSP00000356655:I447M	I	+	3	3	ECT2L	139227875	0.905000	0.30787	0.968000	0.41197	0.043000	0.13939	1.284000	0.33249	2.563000	0.86464	0.591000	0.81541	ATC		0.453	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		9	27	0	0	0	1	0	9	27					G	139186182	C	G	139186182	3	3	331	1	0	0	0	0	1	0	0	0	4902	903	32	4	1379	4	ECT2L	6	139186182	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	21592559	139186182	31928885	24	32666											
NPC1L1	29881	broad.mit.edu	37	chr7	44575860	44575860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcccctacctcagCcatgaacgtgacctggaaca	8	17	1	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:44575860C>T	ENST00000289547.4	-	4	1904	c.1849G>A	c.(1849-1851)Gct>Act	p.A617T	NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	617					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)	CCTACCTCAGCCATGAACGTG	0.637																																						ENST00000289547.4																			0				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						c.(1849-1851)Gct>Act		NPC1-like 1	Ezetimibe(DB00973)						75	72	73					7																	44575860		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575860C>T		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.1849G>A	7.37:g.44575860C>T	ENSP00000289547:p.Ala617Thr					NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T	p.A617T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			4	1904	-			617					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1849G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	17.14	3.312232	0.60414	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-1.92	4.11	4.11	0.48088	.	0.061993	0.64402	D	0.000006	D	0.90676	0.7075	L	0.35593	1.075	0.45439	D	0.998415	P;D;P;P	0.71674	0.739;0.998;0.575;0.9	B;P;B;B	0.60682	0.308;0.878;0.208;0.435	D	0.86975	0.2100	10	0.09590	T	0.72	-8.045	11.8342	0.52314	0.0:1.0:0.0:0.0	.	617;617;617;617	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	T	617	ENSP00000289547:A617T;ENSP00000370552:A617T;ENSP00000438033:A617T;ENSP00000404670:A617T	ENSP00000289547:A617T	A	-	1	0	NPC1L1	44542385	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.262000	0.72514	1.813000	0.52934	0.298000	0.19748	GCT		0.637	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	68	0	0	0	1	0	4	68					T	44575860	C	T	44575860	3	4	331	1	0	0	0	0	1	0	0	0	10571	739	26	2	2298	2	NPC1L1	7	44575860	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		44575860	114562803	25	32667											
LMTK2	22853	broad.mit.edu	37	chr7	97821950	97821950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgtcagaaaactttttaTttcttcaagagaaaaactta	4	5	3	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:97821950T>G	ENST00000297293.5	+	11	2466	c.2173T>G	c.(2173-2175)Ttt>Gtt	p.F725V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	725					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)					AAACTTTTTATTTCTTCAAGA	0.328																																						ENST00000297293.5																			0				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						c.(2173-2175)Ttt>Gtt		lemur tyrosine kinase 2							42	48	46					7																	97821950		2201	4297	6498	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821950T>G	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.2173T>G	7.37:g.97821950T>G	ENSP00000297293:p.Phe725Val						p.F725V	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2466	+	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)		725					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2173T>G	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731820	0.89390	.	.	ENSG00000164715	ENST00000297293	D	0.85773	-2.03	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91613	0.7350	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92492	0.6001	10	0.87932	D	0	.	15.283	0.73801	0.0:0.0:0.0:1.0	.	725	Q8IWU2	LMTK2_HUMAN	V	725	ENSP00000297293:F725V	ENSP00000297293:F725V	F	+	1	0	LMTK2	97659886	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	7.655000	0.83696	2.254000	0.74563	0.533000	0.62120	TTT		0.328	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		12	59	0	0	0	1	0	12	59					G	97821950	T	G	97821950	3	3	331	1	0	0	0	0	1	0	0	0	8859	1493	52	5	2215	5	LMTK2	7	97821950	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	53246090	97821950	61316713	26	32668											
MYST3	7994	broad.mit.edu	37	chr8	41798681	41798681	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattgttcctgggtggcttcTgatttctccccacattctcc	7	13	3	1	rs368865750		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr8:41798681T>C	ENST00000396930.3	-	16	3261	c.2718A>G	c.(2716-2718)tcA>tcG	p.S906S	KAT6A_ENST00000265713.2_Silent_p.S906S|KAT6A_ENST00000406337.1_Silent_p.S906S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	906					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)										GGGTGGCTTCTGATTTCTCCC	0.483																																						ENST00000396930.3																			0											c.(2716-2718)tcA>tcG		K(lysine) acetyltransferase 6A		T	,,	0,4406		0,0,2203	77	73	75		2718,2718,2718	-11.1	0	8		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	906/2005,906/2005,906/2005	41798681	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798681T>C	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.2718A>G	8.37:g.41798681T>C						KAT6A_ENST00000406337.1_Silent_p.S906S|KAT6A_ENST00000265713.2_Silent_p.S906S	p.S906S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3261	-			906					Q76L81	Silent	SNP	ENST00000396930.3	37	c.2718A>G	CCDS6124.1																																																																																				0.483	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		20	35	0	0	0	1	0	20	35					C	41798681	T	C	41798681	2	2	331	1	0	0	0	0	0	0	0	1	10104	1567	55	3		3	MYST3	8	41798681	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		41798681	104565341	27	32669											
BRD3	8019	broad.mit.edu	37	chr9	136901336	136901336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccccgggcagccggTtgatgtccaggctaagctgg	14	13	1	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr9:136901336T>C	ENST00000303407.7	-	10	1939	c.1754A>G	c.(1753-1755)aAc>aGc	p.N585S	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	585	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)		GGGCAGCCGGTTGATGTCCAG	0.592			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1753-1755)aAc>aGc		bromodomain containing 3							70	67	68					9																	136901336		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136901336T>C		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.1754A>G	9.37:g.136901336T>C	ENSP00000305918:p.Asn585Ser					BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	p.N585S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	10	1939	-			585					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1754A>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779531	0.90195	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.23147	1.92	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	L	0.49778	1.585	0.80722	D	1	P	0.42556	0.783	P	0.46320	0.512	T	0.02705	-1.1121	10	0.32370	T	0.25	-34.8003	14.1802	0.65568	0.0:0.0:0.0:1.0	.	585	Q15059	BRD3_HUMAN	S	585;264	ENSP00000305918:N585S	ENSP00000305918:N585S	N	-	2	0	BRD3	135891157	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.807000	0.86032	1.946000	0.56461	0.402000	0.26972	AAC		0.592	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		9	20	0	0	0	1	0	9	20					C	136901336	T	C	136901336	3	2	331	1	0	0	0	0	1	0	0	0	1503	1725	60	3	438	3	BRD3	9	136901336	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		136901336	4312095	28	32670											
CUBN	8029	broad.mit.edu	37	chr10	16941019	16941019	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaagctattctgacattgTccatcaccgctggggattag	10	10	2	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr10:16941019T>C	ENST00000377833.4	-	54	8639	c.8574A>G	c.(8572-8574)ggA>ggG	p.G2858G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2858	CUB 21. {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)	TCTGACATTGTCCATCACCGC	0.403																																						ENST00000377833.4																			0				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						c.(8572-8574)ggA>ggG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						174	156	162					10																	16941019		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16941019T>C	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.8574A>G	10.37:g.16941019T>C							p.G2858G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			54	8639	-			2858			CUB 21.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.8574A>G	CCDS7113.1																																																																																				0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		38	73	0	0	0	1	0	38	73					C	16941019	T	C	16941019	2	2	331	1	0	0	0	0	0	0	0	1	4051	1654	58	3		3	CUBN	10	16941019	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		16941019	118593728	29	32671											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158872	18158872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcgtttcccttgtcgcGctgacaggaaacgcggttgt	12	11	0	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:18158872G>A	ENST00000396275.2	+	3	484	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCTTGTCGCGCTGACAGGAA	0.592																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(121-123)gcG>gcA		MAS-related GPR, member X3							138	134	135					11																	18158872		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158872G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.123G>A	11.37:g.18158872G>A							p.A41A	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	484	+			41					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.123G>A	CCDS7830.1																																																																																				0.592	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		4	110	0	0	0	1	0	4	110					A	18158872	G	A	18158872	2	1	331	1	0	0	0	0	0	0	0	1	9768	1074	38	1		1	MRGPRX3	11	18158872	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		18158872	116847644	30	32672											
OR8H3	390152	broad.mit.edu	37	chr11	55890648	55890648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagccaagaaagtcttattCcttgggaagagatcaagtgg	11	6	2	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:55890648C>T	ENST00000313472.3	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAGTCTTATTCCTTGGGAAGA	0.378																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(799-801)tCc>tTc		olfactory receptor, family 8, subfamily H, member 3							102	103	102					11																	55890648		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890648C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.800C>T	11.37:g.55890648C>T	ENSP00000323928:p.Ser267Phe						p.S267F	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	800	+	Esophageal squamous(21;0.00693)		267					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.800C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318810	0.23994	.	.	ENSG00000181761	ENST00000313472	T	0.00277	8.34	3.62	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.00580	0.0019	M	0.83852	2.665	0.09310	N	1	D	0.63046	0.992	D	0.66979	0.948	T	0.34576	-0.9823	10	0.72032	D	0.01	.	9.604	0.39622	0.0:0.8149:0.0:0.1851	.	267	Q8N146	OR8H3_HUMAN	F	267	ENSP00000323928:S267F	ENSP00000323928:S267F	S	+	2	0	OR8H3	55647224	0.000000	0.05858	0.750000	0.31169	0.246000	0.25737	0.185000	0.16958	1.734000	0.51633	0.173000	0.16961	TCC		0.378	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		29	108	0	0	0	1	0	29	108					T	55890648	C	T	55890648	3	4	331	1	0	0	0	0	1	0	0	0	11239	855	30	2	802	2	OR8H3	11	55890648	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	37731776	55890648	79115868	31	32673											
DAK	26007	broad.mit.edu	37	chr11	61109956	61109956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacggggaagctggtgtgCgccggataaaggtaggtggt	18	7	0	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:61109956C>T	ENST00000394900.3	+	8	908	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTGGTGTGCGCCGGATAAA	0.592																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(679-681)Cgc>Tgc		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							109	115	113					11																	61109956		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61109956C>T		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.679C>T	11.37:g.61109956C>T	ENSP00000378360:p.Arg227Cys						p.R227C	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			8	908	+			227			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.679C>T	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031020	0.54790	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.30981	1.51;1.51	5.67	4.76	0.60689	Dak kinase (2);	0.169984	0.51477	N	0.000090	T	0.33089	0.0851	L	0.59912	1.85	0.58432	D	0.999994	B;B	0.18013	0.025;0.009	B;B	0.18561	0.019;0.022	T	0.11299	-1.0593	10	0.56958	D	0.05	-4.0481	14.7626	0.69617	0.0:0.9303:0.0:0.0697	.	227;227	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	C	227;226	ENSP00000378360:R227C;ENSP00000432539:R226C	ENSP00000378360:R227C	R	+	1	0	DAK	60866532	0.974000	0.33945	1.000000	0.80357	0.910000	0.53928	2.507000	0.45442	1.397000	0.46682	0.563000	0.77884	CGC		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		4	120	0	0	0	1	0	4	120					T	61109956	C	T	61109956	3	4	331	1	0	0	0	0	1	0	0	0	4228	768	27	1	705	1	DAK	11	61109956	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	5219308	61109956	73896560	32	32674											
ACSS3	79611	broad.mit.edu	37	chr12	81503360	81503360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggaaggaatgcttaaCatttgttacaatgccgttga	10	5	0	1	rs548439952		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:81503360C>T	ENST00000548058.1	+	2	1243	c.333C>T	c.(331-333)aaC>aaT	p.N111N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.N110N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						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						GAATGCTTAACATTTGTTACA	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		16565	0.0		0.001	False		,,,				2504	0.0					ENST00000548058.1																			0				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						c.(331-333)aaC>aaT		acyl-CoA synthetase short-chain family member 3							96	95	96					12																	81503360		2203	4299	6502	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81503360C>T		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.333C>T	12.37:g.81503360C>T						ACSS3_ENST00000261206.3_Silent_p.N110N|RP11-543H12.1_ENST00000547123.1_RNA	p.N111N			Q9H6R3	ACSS3_HUMAN			2	1243	+			111					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.333C>T	CCDS9022.1																																																																																				0.313	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		16	24	0	0	0	1	0	16	24					T	81503360	C	T	81503360	2	4	331	1	0	0	0	0	0	0	0	1	190	477	17	2		2	ACSS3	12	81503360	Silent	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		81503360	52348535	33	32675											
CLIP1	6249	broad.mit.edu	37	chr12	122812878	122812878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcttcttgctggctcTgttcagctttgacagtcatg	10	10	4	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:122812878T>C	ENST00000540338.1	-	15	3004	c.2963A>G	c.(2962-2964)cAg>cGg	p.Q988R	CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000358808.2_Missense_Mutation_p.Q977R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	988					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)		TTGCTGGCTCTGTTCAGCTTT	0.403																																						ENST00000358808.2																			0				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						c.(2929-2931)cAg>cGg		CAP-GLY domain containing linker protein 1							208	204	205					12																	122812878		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812878T>C		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.2963A>G	12.37:g.122812878T>C	ENSP00000439093:p.Gln988Arg					CLIP1_ENST00000540338.1_Missense_Mutation_p.Q988R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R|CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R	p.Q977R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	15	3084	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		988					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.2930A>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	9.341	1.063019	0.19987	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.78003	2.71;-1.14;-1.14;0.68;0.63	5.25	4.09	0.47781	.	0.269478	0.37577	N	0.002037	T	0.66781	0.2824	L	0.37897	1.145	0.32069	N	0.594726	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.17979	0.009;0.02;0.006	T	0.63189	-0.6693	10	0.18276	T	0.48	-5.3372	11.8519	0.52415	0.0:0.0:0.1465:0.8535	.	942;977;988	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	R	563;977;977;707;19;942;988	ENSP00000438743:Q563R;ENSP00000303585:Q977R;ENSP00000351665:Q977R;ENSP00000445531:Q942R;ENSP00000439093:Q988R	ENSP00000303585:Q977R	Q	-	2	0	CLIP1	121378831	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	2.710000	0.47169	0.915000	0.36847	0.459000	0.35465	CAG		0.403	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		106	143	0	0	0	1	0	106	143					C	122812878	T	C	122812878	3	2	331	1	0	0	0	0	1	0	0	0	3532	1580	55	3	1397	3	CLIP1	12	122812878	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	41309518	122812878	11039017	34	32676											
BRCA2	675	broad.mit.edu	37	chr13	32907209	32907209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgatccaaactttaaaaaaGaaactgaagcctctgaaagt	6	8	1	4	rs138734772|rs80359291|rs397507596|rs80359292		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr13:32907209G>A	ENST00000380152.3	+	10	1827	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E532K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	532					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|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)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTTAAAAAAGAAACTGAAGC	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM057322	BRCA2	M	rs138734772	c.(1594-1596)Gaa>Aaa	Homologous recombination	breast cancer 2, early onset							79	89	86					13																	32907209		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907209G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1594G>A	13.37:g.32907209G>A	ENSP00000369497:p.Glu532Lys	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E532K	p.E532K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1821	+		Lung SC(185;0.0262)	532					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.1594G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	5.339	0.247817	0.10130	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00768	5.72;5.72	5.5	1.51	0.23008	.	1.267280	0.05242	N	0.512374	T	0.00754	0.0025	L	0.28192	0.835	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.003;0.007	T	0.49725	-0.8909	10	0.23302	T	0.38	.	4.0481	0.09783	0.4033:0.0:0.4324:0.1643	.	532;532	P51587;A1YBP1	BRCA2_HUMAN;.	K	532;532;530	ENSP00000369497:E532K;ENSP00000439902:E532K	ENSP00000369497:E532K	E	+	1	0	BRCA2	31805209	0.994000	0.37717	0.001000	0.08648	0.013000	0.08279	0.869000	0.27996	0.022000	0.15160	-0.157000	0.13467	GAA		0.368	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		36	105	0	0	0	1	0	36	105					A	32907209	G	A	32907209	3	1	331	1	0	0	0	0	1	0	0	0	1499	943	33	2	1628	2	BRCA2	13	32907209	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		32907209	82262669	35	32677											
HNF1B	6928	broad.mit.edu	37	chr17	36104728	36104728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctcggccccgctgccagGggacaggggcagcgtctcca	17	15	1	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr17:36104728G>T	ENST00000225893.4	-	1	509	c.148C>A	c.(148-150)Cct>Act	p.P50T	HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	50					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|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 initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGCTGCCAGGGGACAGGGGC	0.682																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(148-150)Cct>Act		HNF1 homeobox B							40	45	43					17																	36104728		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36104728G>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.148C>A	17.37:g.36104728G>T	ENSP00000225893:p.Pro50Thr					HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T	p.P50T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		1	509	-		Breast(25;0.00765)|Ovarian(249;0.15)	50					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.148C>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295044	0.81025	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593	D;D	0.98313	-4.86;-4.86	5.07	5.07	0.68467	Hepatocyte nuclear factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.961;1.0	P;D	0.91635	0.783;0.999	D	0.99541	1.0963	10	0.56958	D	0.05	-29.643	17.6136	0.88061	0.0:0.0:1.0:0.0	.	50;50	E0YMJ6;P35680	.;HNF1B_HUMAN	T	50	ENSP00000225893:P50T;ENSP00000412212:P50T	ENSP00000225893:P50T	P	-	1	0	HNF1B	33178841	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.621000	0.54210	2.618000	0.88619	0.561000	0.74099	CCT		0.682	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		10	25	1	0	7.48243e-07	1	7.96003e-07	10	25					T	36104728	G	T	36104728	3	4	331	1	0	0	0	0	1	0	0	0	7252	1232	43	4	1561	4	HNF1B	17	36104728	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		36104728	45090482	36	32678											
ZNF91	7644	broad.mit.edu	37	chr19	23544148	23544148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acattctttacatttgtaggGtttctctctactatgaatta	5	7	3	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:23544148G>C	ENST00000300619.7	-	4	1838	c.1633C>G	c.(1633-1635)Ccc>Gcc	p.P545A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	545					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)				CATTTGTAGGGTTTCTCTCTA	0.328																																						ENST00000300619.7																			0											c.(1633-1635)Ccc>Gcc		zinc finger protein 91							35	37	37					19																	23544148		2067	4247	6314	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544148G>C	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.1633C>G	19.37:g.23544148G>C	ENSP00000300619:p.Pro545Ala					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A	p.P545A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1838	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	545					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1633C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420930	0.25639	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.28255	2.34;1.62	1.71	1.71	0.24356	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43010	0.1228	M	0.85197	2.74	0.26560	N	0.97376	D;B	0.56035	0.974;0.268	P;B	0.47075	0.536;0.062	T	0.40365	-0.9567	9	0.62326	D	0.03	.	10.3697	0.44046	0.0:0.0:1.0:0.0	.	513;545	Q05481-2;Q05481	.;ZNF91_HUMAN	A	545;513	ENSP00000300619:P545A;ENSP00000380272:P513A	ENSP00000300619:P545A	P	-	1	0	ZNF91	23335988	0.017000	0.18338	0.003000	0.11579	0.024000	0.10985	1.211000	0.32382	0.921000	0.36994	0.205000	0.17691	CCC		0.328	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	30	0	0	0	1	0	11	30					C	23544148	G	C	23544148	3	2	331	1	0	0	0	0	1	0	0	0	18197	1261	44	4	1946	4	ZNF91	19	23544148	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		23544148	35584835	37	32679											
GRWD1	83743	broad.mit.edu	37	chr19	48953645	48953645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtgtttgcgctgcggCggcttctgcaggtggtggag	20	7	1	0	rs201501296		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:48953645C>T	ENST00000253237.5	+	4	777	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	182						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		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;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGCGCTGCGGCGGCTTCTGCA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		13495	0.001		0.0	False		,,,				2504	0.0					ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(544-546)Cgg>Tgg		glutamate-rich WD repeat containing 1							70	74	73					19																	48953645		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48953645C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.544C>T	19.37:g.48953645C>T	ENSP00000253237:p.Arg182Trp						p.R182W	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	4	777	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	182					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.544C>T	CCDS12720.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.51	2.855695	0.51376	.	.	ENSG00000105447	ENST00000253237	T	0.01347	4.99	3.69	-0.224	0.13115	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.471750	0.22351	N	0.061220	T	0.02193	0.0068	M	0.63843	1.955	0.35577	D	0.805998	P	0.45594	0.862	B	0.40741	0.339	T	0.54193	-0.8330	10	0.87932	D	0	-29.2731	11.2697	0.49131	0.5645:0.4355:0.0:0.0	.	182	Q9BQ67	GRWD1_HUMAN	W	182	ENSP00000253237:R182W	ENSP00000253237:R182W	R	+	1	2	GRWD1	53645457	0.174000	0.23070	1.000000	0.80357	0.978000	0.69477	-0.173000	0.09854	0.311000	0.23014	-0.314000	0.08810	CGG		0.647	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		10	21	0	0	0	1	0	10	21					T	48953645	C	T	48953645	3	4	331	1	0	0	0	0	1	0	0	0	6811	759	27	1	558	1	GRWD1	19	48953645	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	25409497	48953645	10175338	38	32680											
TPTE	7179	broad.mit.edu	37	chr21	10943011	10943011	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtagaagtcgaagtaaAtgtgtccatctaagaataaa	9	5	1	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr21:10943011A>T	ENST00000361285.4	-	12	905	c.576T>A	c.(574-576)caT>caA	p.H192Q	TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.H174Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	192					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGAAGTAAATGTGTCCATC	0.328																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(520-522)caT>caA		transmembrane phosphatase with tensin homology							67	62	64					21																	10943011		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10943011A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.576T>A	21.37:g.10943011A>T	ENSP00000355208:p.His192Gln					TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000361285.4_Missense_Mutation_p.H192Q|TPTE_ENST00000415664.2_5'UTR	p.H174Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	889	-			192					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.522T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	7.661	0.685028	0.14973	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98345	-4.88;-4.88;-4.88	2.07	-0.979	0.10276	Ion transport (1);	0.813411	0.10298	U	0.691502	D	0.94729	0.8299	L	0.29908	0.895	0.09310	N	1	B;B;P	0.45011	0.109;0.109;0.848	B;B;P	0.45856	0.031;0.031;0.495	D	0.90244	0.4288	10	0.29301	T	0.29	-1.4681	2.932	0.05802	0.4391:0.2453:0.3155:0.0	.	154;174;192	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	174;192;154	ENSP00000298232:H174Q;ENSP00000355208:H192Q;ENSP00000344441:H154Q	ENSP00000298232:H174Q	H	-	3	2	TPTE	9964882	0.006000	0.16342	0.000000	0.03702	0.029000	0.11900	1.752000	0.38349	-0.198000	0.10333	0.163000	0.16589	CAT		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			10	64	0	0	0	1	0	10	64					T	10943011	A	T	10943011	3	4	331	1	0	0	0	0	1	0	0	0	16427	98	4	5	1131	5	TPTE	21	10943011	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08		10943011	37186884	39	32681											
HMGXB4	10042	broad.mit.edu	37	chr22	35659135	35659136	+	Frame_Shift_Ins	INS	-	-	A													ctggccgaagccaacgagagINSaaaaaacgttcttacaaaga					rs79846609		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:35659135_35659136insA	ENST00000216106.5	+	3	224_225	c.96_97insA	c.(97-99)aaafs	p.K33fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	33					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						GCCAACGAGAGAAAAAACGTTC	0.401																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(94-99)gaaaaafs		HMG box domain containing 4																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35659135_35659136insA	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.102dupA	22.37:g.35659141_35659141dupA	ENSP00000216106:p.Lys33fs					HMGXB4_ENST00000444518.2_5'UTR	p.EK32fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			3	224_225	+			32					O75672|O75673|Q9UMT5	Frame_Shift_Ins	INS	ENST00000216106.5	37	c.96_97insA	CCDS33641.1																																																																																				0.401	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		14	50						14	50	---	---	---	---	A	35659136	-	A	35659135	7	5	331	1	0	1	1	0	0	0	0	0	7239	933	33	0	102	0	HMGXB4	22	35659135	Frame_Shift_Ins	INS	-	TCGA-HT-A74K-01A-11D-A32B-08		35659135	15645431	40	32682											
DNAJB7	150353	broad.mit.edu	37	chr22	41257114	41257115	+	Frame_Shift_Ins	INS	-	-	T													tttgcacctctttacgcttcINSttttttttcctcttaccacc							TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:41257114_41257115insT	ENST00000307221.4	-	1	1015_1016	c.884_885insA	c.(883-885)aagfs	p.K295fs	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	295	Poly-Lys.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTTACGCTTCTTTTTTTTCCT	0.381																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(883-885)aaafs		DnaJ (Hsp40) homolog, subfamily B, member 7																																				SO:0001589	frameshift_variant	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257114_41257115insT	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.885dupA	22.37:g.41257122_41257122dupT	ENSP00000307197:p.Lys295fs					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron	p.K295fs	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	1015_1016	-			295			Poly-Lys.		Q2M220|Q5H904|Q8WYJ7	Frame_Shift_Ins	INS	ENST00000307221.4	37	c.884_885insA	CCDS14008.1																																																																																				0.381	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		29	85						29	85	---	---	---	---	T	41257115	-	T	41257114	7	5	331	1	0	1	1	0	0	0	0	0	4625	912	32	0	48	0	DNAJB7	22	41257114	Frame_Shift_Ins	INS	-	TCGA-HT-A74K-01A-11D-A32B-08	5597979	41257114	10047452	41	32683											
TBC1D22A	25771	broad.mit.edu	37	chr22	47287286	47287286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaccaggacacatacaGgcaggtgggaatcctttctt	10	10	2	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:47287286G>A	ENST00000337137.4	+	6	999	c.833G>A	c.(832-834)aGg>aAg	p.R278K	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	278	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACACATACAGGCAGGTGGGA	0.403																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(832-834)aGg>aAg		TBC1 domain family, member 22A							96	99	98					22																	47287286		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47287286G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.833G>A	22.37:g.47287286G>A	ENSP00000336724:p.Arg278Lys					TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K	p.R278K	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	6	999	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	278			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.833G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437187	0.62955	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	4.36	4.36	0.52297	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	M	0.68593	2.085	0.80722	D	1	B;D;D;B	0.59357	0.06;0.985;0.968;0.06	B;D;D;B	0.64595	0.121;0.922;0.927;0.121	T	0.01074	-1.1460	10	0.33141	T	0.24	.	14.437	0.67287	0.0:0.0:1.0:0.0	.	278;200;219;278	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	K	278;231;219;200;231	ENSP00000336724:R278K;ENSP00000370383:R231K;ENSP00000384036:R219K;ENSP00000347932:R200K;ENSP00000385634:R231K	ENSP00000336724:R278K	R	+	2	0	TBC1D22A	45665950	1.000000	0.71417	0.219000	0.23793	0.206000	0.24218	8.166000	0.89665	2.248000	0.74166	0.557000	0.71058	AGG		0.403	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		4	90	0	0	0	1	0	4	90					A	47287286	G	A	47287286	3	1	331	1	0	0	0	0	1	0	0	0	15608	1000	35	2	855	2	TBC1D22A	22	47287286	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	6030172	47287286	4017280	42	32684											
ATP7A	538	broad.mit.edu	37	chrX	77267107	77267107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctatgttcctggagcGccagattcttccaggattgt	9	10	3	1	rs2234936		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chrX:77267107G>A	ENST00000341514.6	+	9	2263	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R703H	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	703			R -> H (in dbSNP:rs2234936).		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)	TTCCTGGAGCGCCAGATTCTT	0.353																																						ENST00000341514.6																			0				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						c.(2107-2109)cGc>cAc		ATPase, Cu++ transporting, alpha polypeptide							222	215	217					X																	77267107		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267107G>A	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.2108G>A	X.37:g.77267107G>A	ENSP00000345728:p.Arg703His					ATP7A_ENST00000343533.5_Missense_Mutation_p.R703H|ATP7A_ENST00000350425.4_Intron	p.R703H	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			9	2263	+			703		R -> H (in dbSNP:rs2234936).			B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2108G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922838	0.33908	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.96200	-3.89;-3.94	5.57	-0.54	0.11861	.	0.417121	0.25759	N	0.028500	D	0.84383	0.5460	N	0.05441	-0.05	0.58432	D	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.68610	-0.5363	10	0.12766	T	0.61	0.0693	5.8989	0.18955	0.5651:0.0:0.3058:0.1291	rs2234936	703	Q04656	ATP7A_HUMAN	H	703	ENSP00000343026:R703H;ENSP00000345728:R703H	ENSP00000345728:R703H	R	+	2	0	ATP7A	77153763	0.216000	0.23585	0.991000	0.47740	0.955000	0.61496	0.379000	0.20585	-0.155000	0.11098	0.538000	0.68166	CGC		0.353	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		5	200	0	0	0	1	0	5	200					A	77267107	G	A	77267107	3	1	331	1	0	0	0	0	1	0	0	0	1190	1087	38	1	2138	1	ATP7A	23	77267107	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		77267107	78003453	43	32685											
ACSL4	2182	broad.mit.edu	37	chrX	108911384	108911384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtccataaccctggccaaTtgggcagcagaagcagacat	10	12	0	2	rs375864785		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chrX:108911384T>C	ENST00000469796.2	-	11	1780	c.1384A>G	c.(1384-1386)Att>Gtt	p.I462V	ACSL4_ENST00000340800.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	462					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)	CCCTGGCCAATTGGGCAGCAG	0.498																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1384-1386)Att>Gtt		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)	T	VAL/ILE,VAL/ILE	0,3835		0,0,0,1632,571	153	130	138		1261,1384	-6.7	0	X		138	1,6727		0,0,1,2428,1871	no	missense,missense	ACSL4	NM_004458.2,NM_022977.2	29,29	0,0,1,4060,2442	CC,CT,C,TT,T		0.0149,0.0,0.0095	benign,benign	421/671,462/712	108911384	1,10562	2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108911384T>C	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.1384A>G	X.37:g.108911384T>C	ENSP00000419171:p.Ile462Val					ACSL4_ENST00000469796.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V	p.I462V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			12	1888	-			462					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1384A>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.332779	0.01298	0.0	1.49E-4	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.42131	0.98;0.98;0.98	5.65	-6.68	0.01778	AMP-dependent synthetase/ligase (1);	0.379179	0.28921	N	0.013704	T	0.17066	0.0410	N	0.05554	-0.025	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.02654	T	1	-1.6262	18.3403	0.90303	0.0:0.7861:0.0:0.2139	.	462	O60488	ACSL4_HUMAN	V	421;462;462	ENSP00000262835:I421V;ENSP00000419171:I462V;ENSP00000339787:I462V	ENSP00000339787:I462V	I	-	1	0	ACSL4	108798040	0.672000	0.27530	0.000000	0.03702	0.412000	0.31113	1.339000	0.33885	-1.772000	0.01292	-1.276000	0.01395	ATT		0.498	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		5	104	0	0	0	1	0	5	104					C	108911384	T	C	108911384	3	2	331	1	0	0	0	0	1	0	0	0	179	1493	52	3	775	3	ACSL4	23	108911384	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	31644277	108911384	46359176	44	32686											
KIAA1522	57648	broad.mit.edu	37	chr1	33235364	33235364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcactgtgctgggactccCgcagcatgtgcagaaggagc	15	11	0	1	rs201274811		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:33235364C>T	ENST00000373480.1	+	5	603	c.500C>T	c.(499-501)cCg>cTg	p.P167L	KIAA1522_ENST00000401073.2_Missense_Mutation_p.P226L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	167										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGGGACTCCCGCAGCATGTG	0.657																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(676-678)cCg>cTg		KIAA1522		C	LEU/PRO,,LEU/PRO	1,3947		0,1,1973	29	34	32		500,,677	4.1	0.6	1		32	2,8302		0,2,4150	yes	missense,intron,missense	KIAA1522	NM_001198972.1,NM_001198973.1,NM_020888.2	98,,98	0,3,6123	TT,TC,CC		0.0241,0.0253,0.0245	probably-damaging,,probably-damaging	167/1036,,226/1095	33235364	3,12249	1974	4152	6126	SO:0001583	missense	57648							g.chr1:33235364C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.500C>T	1.37:g.33235364C>T	ENSP00000362579:p.Pro167Leu					KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P167L	p.P226L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			5	747	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	167					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.677C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995159	0.35226	2.53E-4	2.41E-4	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.29655	1.56;1.56;1.56	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000009	T	0.51753	0.1693	M	0.65498	2.005	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.962;0.962	T	0.54957	-0.8215	10	0.87932	D	0	-13.336	11.8458	0.52383	0.0:0.9181:0.0:0.0819	.	178;167;226	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	226;178;167	ENSP00000383851:P226L;ENSP00000362580:P178L;ENSP00000362579:P167L	ENSP00000362579:P167L	P	+	2	0	KIAA1522	33007951	0.999000	0.42202	0.550000	0.28217	0.149000	0.21700	4.561000	0.60809	1.251000	0.43983	0.491000	0.48974	CCG		0.657	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	4	0	0	0	1	0	6	4					T	33235364	C	T	33235364	3	4	332	1	0	0	0	0	1	0	0	0	8238	652	23	1	695	1	KIAA1522	1	33235364	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		33235364	216015257	1	32687											
MACF1	23499	broad.mit.edu	37	chr1	39924150	39924150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctttcatagagaaatccCgcagcggaggcagtatgttt	11	10	1	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:39924150C>T	ENST00000372915.3	+	89	20968	c.20881C>T	c.(20881-20883)Cgc>Tgc	p.R6961C	MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7062C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961					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)	p.R5505S(1)|p.R5003S(1)		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)			AGAGAAATCCCGCAGCGGAGG	0.468																																						ENST00000564288.1																			2	Substitution - Missense(2)	p.R5505S(1)|p.R5003S(1)	kidney(2)	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						c.(21184-21186)Cgc>Tgc		microtubule-actin crosslinking factor 1							66	68	67					1																	39924150		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924150C>T	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.20881C>T	1.37:g.39924150C>T	ENSP00000362006:p.Arg6961Cys					MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C	p.R7062C			Q9UPN3	MACF1_HUMAN	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)		90	21961	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6961			EF-hand 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21184C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.32|17.32	3.359802|3.359802	0.61403|0.61403	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.70631	.|-0.47;-0.4;-0.47;-0.5;-0.29;0.69	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.091117	.|0.48767	.|D	.|0.000168	T|T	0.79627|0.79627	0.4478|0.4478	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.962	T|T	0.80797|0.80797	-0.1222|-0.1222	5|10	.|0.87932	.|D	.|0	.|.	14.6033|14.6033	0.68456|0.68456	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|6961;5003	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	L|C	4006|5003;6961;5003;5003;4873;5505	.|ENSP00000439537:R5003C;ENSP00000362006:R6961C;ENSP00000354573:R5003C;ENSP00000313438:R5003C;ENSP00000444364:R4873C;ENSP00000289893:R5505C	.|ENSP00000289893:R5505C	P|R	+|+	2|1	0|0	MACF1|MACF1	39696737|39696737	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.189000|0.189000	0.23516|0.23516	4.780000|4.780000	0.62382|0.62382	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		16	2	0	0	0	1	0	16	2					T	39924150	C	T	39924150	3	4	332	1	0	0	0	0	1	0	0	0	9144	652	23	1	21500	1	MACF1	1	39924150	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	6688786	39924150	209326471	2	32688											
LY9	4063	broad.mit.edu	37	chr1	160786485	160786485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggacgggggaaacactGtcatgtacacatggaccccg	14	10	1	0			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:160786485G>A	ENST00000263285.6	+	5	1204	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000392203.4_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368037.5_Missense_Mutation_p.V392I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	392	Ig-like C2-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)			GGGAAACACTGTCATGTACAC	0.557																																						ENST00000263285.5																			0				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						c.(1174-1176)Gtc>Atc		lymphocyte antigen 9							125	97	107					1																	160786485		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160786485G>A	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.1174G>A	1.37:g.160786485G>A	ENSP00000263285:p.Val392Ile					LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.V44I	p.V392I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	1204	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		392			Ig-like C2-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1174G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488244	0.64074	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000368037;ENST00000368035	T;T;T	0.53423	0.62;0.62;0.62	4.76	4.76	0.60689	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58821	0.2149	M	0.74258	2.255	0.09310	N	1	D;D;D	0.69078	0.961;0.996;0.997	P;D;D	0.80764	0.857;0.99;0.994	T	0.53308	-0.8457	9	0.72032	D	0.01	-5.2946	13.6423	0.62257	0.0:0.0:1.0:0.0	.	44;392;392	Q5VYI1;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	I	392;44;392;352;44	ENSP00000357019:V44I;ENSP00000263285:V392I;ENSP00000357014:V44I	ENSP00000263285:V392I	V	+	1	0	LY9	159053109	0.617000	0.27043	0.017000	0.16124	0.001000	0.01503	2.638000	0.46562	2.328000	0.79073	0.563000	0.77884	GTC		0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		3	33	0	0	0	1	0	3	33					A	160786485	G	A	160786485	3	1	332	1	0	0	0	0	1	0	0	0	9101	1377	48	2	1324	2	LY9	1	160786485	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	120862335	160786485	88464136	3	32689											
FAM36A	116228	broad.mit.edu	37	chr1	245005361	245005361	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggacattttttgttcactaGtgagtatctgtattttttat	7	4	2	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:245005361G>C	ENST00000411948.2	+	2	550		c.e2+1		COX20_ENST00000498262.1_Splice_Site|COX20_ENST00000366528.3_Splice_Site	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TTGTTCACTAGTGAGTATCTG	0.323																																						ENST00000411948.2																			0											c.e2+1		COX20 cytochrome C oxidase assembly factor							81	73	76					1																	245005361		2203	4300	6503	SO:0001630	splice_region_variant	116228					integral to membrane		g.chr1:245005361G>C	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.157+1G>C	1.37:g.245005361G>C						COX20_ENST00000366528.3_Splice_Site|COX20_ENST00000498262.1_Splice_Site		NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN			2	550	+								Q8WV86	Splice_Site	SNP	ENST00000411948.2	37		CCDS31080.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824714	0.71143	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM36A	243071984	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.601000	0.82783	2.770000	0.95276	0.650000	0.86243	.		0.323	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076	Intron	12	33	0	0	0	1	0	12	33					C	245005361	G	C	245005361	5	2	332	1	0	0	0	0	0	0	1	0	5554	1043	36	4	164	4	FAM36A	1	245005361	Splice_Site	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	84218876	245005361	4245260	4	32690											
MYO3B	140469	broad.mit.edu	37	chr2	171259406	171259406	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttggatatctttggattCgagaattttcagagaaattc	8	5	3	2			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:171259406C>T	ENST00000408978.4	+	19	2321	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000334231.6_Silent_p.F735F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	726	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						TCTTTGGATTCGAGAATTTTC	0.418																																						ENST00000334231.6																			0				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						c.(2203-2205)ttC>ttT		myosin IIIB							130	120	123					2																	171259406		1869	4105	5974	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171259406C>T		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.2178C>T	2.37:g.171259406C>T						MYO3B_ENST00000408978.4_Silent_p.F726F|MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000602629.1_3'UTR	p.F735F			Q8WXR4	MYO3B_HUMAN			19	2205	+			726			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.2205C>T	CCDS42773.1																																																																																				0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			40	52	0	0	0	1	0	40	52					T	171259406	C	T	171259406	2	4	332	1	0	0	0	0	0	0	0	1	10077	883	31	1		1	MYO3B	2	171259406	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		171259406	71939967	5	32691											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	28	0	0	0	1	0	15	28					T	209113112	C	T	209113112	3	4	332	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	37853706	209113112	34086261	6	32692											
SLC22A13	9390	broad.mit.edu	37	chr3	38317561	38317561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggtggcctgatgtGtatcatcatcatcttcatcc	10	10	6	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:38317561G>T	ENST00000311856.4	+	7	1260	c.1211G>T	c.(1210-1212)tGt>tTt	p.C404F	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	404					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)		GGCCTGATGTGTATCATCATC	0.597																																						ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(1210-1212)tGt>tTt		solute carrier family 22 (organic anion/urate transporter), member 13							79	54	62					3																	38317561		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38317561G>T	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.1211G>T	3.37:g.38317561G>T	ENSP00000310241:p.Cys404Phe					SLC22A13_ENST00000450935.2_3'UTR	p.C404F	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	7	1260	+			404					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.1211G>T	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169996	0.57584	.	.	ENSG00000172940	ENST00000311856	T	0.73681	-0.77	5.16	3.27	0.37495	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.138544	0.64402	D	0.000002	D	0.84853	0.5564	M	0.86864	2.845	0.80722	D	1	D;P	0.69078	0.997;0.921	D;P	0.65443	0.935;0.844	D	0.83855	0.0265	10	0.46703	T	0.11	.	9.9436	0.41596	0.077:0.17:0.753:0.0	.	404;404	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	F	404	ENSP00000310241:C404F	ENSP00000310241:C404F	C	+	2	0	SLC22A13	38292565	1.000000	0.71417	0.338000	0.25549	0.667000	0.39255	3.449000	0.52950	0.571000	0.29365	0.655000	0.94253	TGT		0.597	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		7	6	1	0	5.4927e-09	1	6.12648e-09	7	6					T	38317561	G	T	38317561	3	4	332	1	0	0	0	0	1	0	0	0	14444	1377	48	4	1237	4	SLC22A13	3	38317561	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		38317561	159704869	7	32693											
SMC4	10051	broad.mit.edu	37	chr3	160149454	160149454	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaaatatcactgcatccTatagaagataatcctattga	4	8	2	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:160149454T>A	ENST00000357388.3	+	21	3589	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.P1021P|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1046					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)			CACTGCATCCTATAGAAGATA	0.313																																						ENST00000357388.3																			0				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						c.(3136-3138)ccT>ccA		structural maintenance of chromosomes 4							41	47	45					3																	160149454		2202	4298	6500	SO:0001819	synonymous_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149454T>A	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.3138T>A	3.37:g.160149454T>A						RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000469762.1_Silent_p.P1021P	p.P1046P	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3589	+			1046					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	c.3138T>A	CCDS3189.1																																																																																				0.313	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			18	24	0	0	0	1	0	18	24					A	160149454	T	A	160149454	2	1	332	1	0	0	0	0	0	0	0	1	14785	1509	53	5		5	SMC4	3	160149454	Silent	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08	121831893	160149454	37872976	8	32694											
GPR125	166647	broad.mit.edu	37	chr4	22390767	22390767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgctgctgcagttatgccGcaaacaatgatggggatacc	11	10	0	1	rs138178541	byFrequency	TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.C889C(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2665-2667)tgC>tgT		G protein-coupled receptor 125		G		2,4404	4.2+/-10.8	0,2,2201	200	204	203		2667	-1.1	0.7	4	dbSNP_134	203	0,8600		0,0,4300	no	coding-synonymous	GPR125	NM_145290.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		889/1322	22390767	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390767G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2667C>T	4.37:g.22390767G>A						GPR125_ENST00000282943.5_5'UTR	p.C889C	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2936	-		Breast(46;0.198)	889					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2667C>T	CCDS33964.1																																																																																				0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	186	0	0	0	1	0	4	186					A	22390767	G	A	22390767	2	1	332	1	0	0	0	0	0	0	0	1	6639	1079	38	1		1	GPR125	4	22390767	Silent	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		22390767	168763509	9	32695											
ELOVL6	79071	broad.mit.edu	37	chr4	110972670	110972670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttaaccacacagcccaTcagcatctgagtgatctggg	10	11	3	2			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:110972670T>G	ENST00000394607.3	-	5	785	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	208					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACACAGCCCATCAGCATCTGA	0.522																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(622-624)Atg>Ctg		ELOVL fatty acid elongase 6							113	97	103					4																	110972670		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972670T>G	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.622A>C	4.37:g.110972670T>G	ENSP00000378105:p.Met208Leu					ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L	p.M208L			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	785	-			208					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.622A>C	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336113	0.41398	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.19250	2.16;2.16	5.97	3.52	0.40303	.	0.231201	0.64402	N	0.000020	T	0.11922	0.0290	L	0.31065	0.9	0.41206	D	0.986406	B	0.02656	0.0	B	0.06405	0.002	T	0.13737	-1.0498	10	0.09338	T	0.73	-10.5153	6.6914	0.23174	0.0:0.1773:0.1237:0.699	.	208	Q9H5J4	ELOV6_HUMAN	L	208	ENSP00000378105:M208L;ENSP00000304736:M208L	ENSP00000304736:M208L	M	-	1	0	ELOVL6	111192119	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.621000	0.24418	0.495000	0.27882	0.533000	0.62120	ATG		0.522	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		18	29	0	0	0	1	0	18	29					G	110972670	T	G	110972670	3	3	332	1	0	0	0	0	1	0	0	0	5078	1435	50	5	179	5	ELOVL6	4	110972670	Missense_Mutation	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08	88581903	110972670	80181606	10	32696											
NPR2	4882	broad.mit.edu	37	chr9	35801065	35801065	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtctctatttccccttcAgctccactttcaaccctggc	6	16	3	0			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr9:35801065A>G	ENST00000342694.2	+	7	1606		c.e7-1			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTCCCCTTCAGCTCCACTTT	0.507																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.e7-1		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						210	194	199					9																	35801065		2203	4300	6503	SO:0001630	splice_region_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35801065A>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1352-1A>G	9.37:g.35801065A>G								NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1606	+	all_epithelial(49;0.161)							B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Splice_Site	SNP	ENST00000342694.2	37		CCDS6590.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348044	0.82132	.	.	ENSG00000159899	ENST00000342694	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1457	0.59461	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR2	35791065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.441000	0.80485	2.134000	0.65973	0.460000	0.39030	.		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		Intron	43	61	0	0	0	1	0	43	61					G	35801065	A	G	35801065	5	3	332	1	0	0	0	0	0	0	1	0	10595	202	7	3	1376	3	NPR2	9	35801065	Splice_Site	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		35801065	105412366	11	32697											
PRKG1	5592	broad.mit.edu	37	chr10	53893606	53893606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttttcacatagggaagaTgtgagaacagcaaacgtaat	9	5	1	2			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:53893606T>C	ENST00000401604.2	+	8	1091	c.897T>C	c.(895-897)gaT>gaC	p.D299D	PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D|PRKG1_ENST00000373980.4_Silent_p.D314D			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	299	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATAGGGAAGATGTGAGAACAG	0.318																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(940-942)gaT>gaC		protein kinase, cGMP-dependent, type I							155	157	156					10																	53893606		2203	4300	6503	SO:0001819	synonymous_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53893606T>C		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.897T>C	10.37:g.53893606T>C						PRKG1_ENST00000401604.2_Silent_p.D299D|PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D	p.D314D	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	8	1359	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	299					A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	c.942T>C	CCDS44399.1																																																																																				0.318	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	19	0	0	0	1	0	12	19					C	53893606	T	C	53893606	2	2	332	1	0	0	0	0	0	0	0	1	12522	1461	51	3		3	PRKG1	10	53893606	Silent	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08		53893606	81641141	12	32698											
SPOCK2	9806	broad.mit.edu	37	chr10	73827469	73827469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgatctcccaggtcagccAggtcctgaccggtgcaagtc	12	15	2	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:73827469A>G	ENST00000373109.2	-	7	1055	c.611T>C	c.(610-612)cTg>cCg	p.L204P	SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	204					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGGTCAGCCAGGTCCTGACC	0.612																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(610-612)cTg>cCg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							33	32	33					10																	73827469		2203	4300	6503	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73827469A>G	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.611T>C	10.37:g.73827469A>G	ENSP00000362201:p.Leu204Pro					SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P|SPOCK2_ENST00000460053.1_5'UTR	p.L204P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			7	1055	-			204					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.611T>C	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650891	0.87958	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.59638	0.25;0.25	5.82	5.82	0.92795	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.78997	0.4372	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82627	-0.0364	10	0.87932	D	0	.	15.8434	0.78868	1.0:0.0:0.0:0.0	.	204	Q92563	TICN2_HUMAN	P	201;204;204	ENSP00000321108:L204P;ENSP00000439445:L204P	ENSP00000321108:L204P	L	-	2	0	SPOCK2	73497475	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.864000	0.92294	2.224000	0.72417	0.459000	0.35465	CTG		0.612	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			4	3	0	0	0	1	0	4	3					G	73827469	A	G	73827469	3	3	332	1	0	0	0	0	1	0	0	0	15079	188	7	3	683	3	SPOCK2	10	73827469	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08	19933863	73827469	61707278	13	32699											
VWA2	340706	broad.mit.edu	37	chr10	116049184	116049184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtccccgggattccctgatCcacgtggcagcttacgccga	12	15	0	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:116049184C>T	ENST00000392982.3	+	12	2308	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	VWA2_ENST00000603594.1_Silent_p.I686I			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	686	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)		ATTCCCTGATCCACGTGGCAG	0.627																																						ENST00000603594.1																			0				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						c.(2056-2058)atC>atT		von Willebrand factor A domain containing 2							141	110	121					10																	116049184		2203	4300	6503	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116049184C>T	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.2058C>T	10.37:g.116049184C>T						VWA2_ENST00000392982.3_Silent_p.I686I	p.I686I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	12	2379	+			686			VWFA 3.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.2058C>T																																																																																					0.627	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		14	28	0	0	0	1	0	14	28					T	116049184	C	T	116049184	2	4	332	1	0	0	0	0	0	0	0	1	17236	845	30	2		2	VWA2	10	116049184	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	42221715	116049184	19485563	14	32700											
OR5R1	219479	broad.mit.edu	37	chr11	56185335	56185335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcaggggactacagatgGcgacatagcaatcgtaggcc	13	9	0	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr11:56185335G>A	ENST00000312253.1	-	1	373	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	125						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACTACAGATGGCGACATAGCA	0.463																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(373-375)gCc>gTc		olfactory receptor, family 5, subfamily R, member 1							108	104	105					11																	56185335		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185335G>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.374C>T	11.37:g.56185335G>A	ENSP00000308595:p.Ala125Val						p.A125V	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	373	-	Esophageal squamous(21;0.00448)		125						Missense_Mutation	SNP	ENST00000312253.1	37	c.374C>T	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262189	0.95368	.	.	ENSG00000174942	ENST00000312253	T	0.01228	5.14	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32608	U	0.005877	T	0.17023	0.0409	H	0.96996	3.92	0.42869	D	0.994139	D	0.89917	1.0	D	0.74674	0.984	T	0.11251	-1.0595	10	0.87932	D	0	-16.3264	19.5965	0.95541	0.0:0.0:1.0:0.0	.	125	Q8NH85	OR5R1_HUMAN	V	125	ENSP00000308595:A125V	ENSP00000308595:A125V	A	-	2	0	OR5R1	55941911	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	9.575000	0.98187	2.740000	0.93945	0.478000	0.44815	GCC		0.463	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		24	32	0	0	0	1	0	24	32					A	56185335	G	A	56185335	3	1	332	1	0	0	0	0	1	0	0	0	11180	1203	42	2	602	2	OR5R1	11	56185335	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		56185335	78821181	15	32701											
NOS1	4842	broad.mit.edu	37	chr12	117701762	117701762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgcctttccagacatgCgtgttccagggatcaggctg	13	10	1	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr12:117701762C>T	ENST00000338101.4	-	12	2158	c.2154G>A	c.(2152-2154)acG>acA	p.T718T	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.T718T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCCAGACATGCGTGTTCCAGG	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2152-2154)acG>acA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						113	106	108					12																	117701762		2035	4179	6214	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117701762C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2154G>A	12.37:g.117701762C>T						NOS1_ENST00000338101.4_Silent_p.T718T|NOS1_ENST00000344089.3_3'UTR	p.T718T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	13	2839	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		718						Silent	SNP	ENST00000338101.4	37	c.2154G>A	CCDS55890.1																																																																																				0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			3	56	0	0	0	1	0	3	56					T	117701762	C	T	117701762	2	4	332	1	0	0	0	0	0	0	0	1	10541	755	27	1		1	NOS1	12	117701762	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		117701762	16150133	16	32702											
USP14	9097	broad.mit.edu	37	chr18	197675	197675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagaaattggaagcaatAgaggatgattctgttaaaga	10	4	1	4			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:197675A>G	ENST00000261601.7	+	8	745	c.654A>G	c.(652-654)atA>atG	p.I218M	USP14_ENST00000400266.3_Missense_Mutation_p.I207M|USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	218	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGGAAGCAATAGAGGATGATT	0.308																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(652-654)atA>atG		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							110	118	115					18																	197675		2203	4299	6502	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:197675A>G	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.654A>G	18.37:g.197675A>G	ENSP00000261601:p.Ile218Met					USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M|USP14_ENST00000400266.3_Missense_Mutation_p.I207M	p.I218M	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			8	745	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	218					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.654A>G	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884672	0.51908	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31510	1.49;1.49	5.72	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.271361	0.40302	N	0.001133	T	0.32823	0.0842	L	0.48642	1.525	0.45172	D	0.998185	B;P;B	0.35155	0.158;0.487;0.158	B;B;B	0.40534	0.285;0.332;0.285	T	0.06391	-1.0829	10	0.48119	T	0.1	-15.474	13.0352	0.58867	0.8654:0.1346:0.0:0.0	.	207;183;218	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	M	218;183;207	ENSP00000261601:I218M;ENSP00000383125:I207M	ENSP00000261601:I218M	I	+	3	3	USP14	187675	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.824000	0.27379	0.966000	0.38159	0.528000	0.53228	ATA		0.308	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		3	39	0	0	0	1	0	3	39					G	197675	A	G	197675	3	3	332	1	0	0	0	0	1	0	0	0	17042	410	15	3	684	3	USP14	18	197675	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		197675	77879573	17	32703											
APCDD1	147495	broad.mit.edu	37	chr18	10487787	10487787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggaacaggatgcccggGggcgctatctgctgttcaac	13	10	2	0			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:10487787G>A	ENST00000355285.5	+	5	1651	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGATGCCCGGGGGCGCTATCT	0.597																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1297-1299)Ggg>Agg		adenomatosis polyposis coli down-regulated 1							77	74	75					18																	10487787		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487787G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1297G>A	18.37:g.10487787G>A	ENSP00000347433:p.Gly433Arg						p.G433R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1651	+			433						Missense_Mutation	SNP	ENST00000355285.5	37	c.1297G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815436	0.90790	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16457	2.34	5.18	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.79693	2.465	0.80722	D	1	D	0.55800	0.973	P	0.58873	0.847	T	0.31280	-0.9949	10	0.72032	D	0.01	-39.2026	13.4601	0.61223	0.0758:0.0:0.9242:0.0	.	433	Q8J025	APCD1_HUMAN	R	433;484	ENSP00000347433:G433R	ENSP00000347433:G433R	G	+	1	0	APCDD1	10477787	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.597000	0.82733	2.567000	0.86603	0.563000	0.77884	GGG		0.597	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		23	14	0	0	0	1	0	23	14					A	10487787	G	A	10487787	3	1	332	1	0	0	0	0	1	0	0	0	765	1232	43	2	1315	2	APCDD1	18	10487787	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	10290112	10487787	67589461	18	32704											
MUC16	94025	broad.mit.edu	37	chr19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacggagactgggacacCgttcgtggccagagtcaaat	13	10	1	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	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.G646S(2)		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						ACTGGGACACCGTTCGTGGCC	0.562																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.G646S(2)	lung(2)	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						c.(1936-1938)Ggt>Agt		mucin 16, cell surface associated							123	127	126					19																	9089879		2158	4272	6430	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089879C>T	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.1936G>A	19.37:g.9089879C>T	ENSP00000381008:p.Gly646Ser						p.G646S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2139	-			646			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1936G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.752	0.323132	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.03468	3.92	1.56	0.489	0.16854	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	.	.	.	B	0.22480	0.07	B	0.09377	0.004	T	0.41484	-0.9506	8	0.87932	D	0	.	3.2002	0.06647	0.0:0.2599:0.0:0.7401	.	646	B5ME49	.	S	646	ENSP00000381008:G646S	ENSP00000381008:G646S	G	-	1	0	MUC16	8950879	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.659000	0.05323	0.093000	0.17368	0.205000	0.17691	GGT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	52	0	0	0	1	0	32	52					T	9089879	C	T	9089879	3	4	332	1	0	0	0	0	1	0	0	0	9973	652	23	1	41923	1	MUC16	19	9089879	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		9089879	50039104	19	32705											
YWHAB	7529	broad.mit.edu	37	chr20	43532703	43532703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttctacttgaaaatgAaaggagattattttaggtat	10	2	1	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr20:43532703A>G	ENST00000372839.3	+	4	644	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	124					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|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)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTGAAAATGAAAGGAGATTA	0.328																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(370-372)Aaa>Gaa		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							87	87	87					20																	43532703		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43532703A>G	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.370A>G	20.37:g.43532703A>G	ENSP00000361930:p.Lys124Glu					YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E	p.K124E	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			4	644	+		Myeloproliferative disorder(115;0.0122)	124					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.370A>G	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	A	33	5.270422	0.95429	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.55234	0.53;0.53	5.74	5.74	0.90152	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.82517	2.595	0.80722	D	1	D	0.58268	0.982	P	0.56648	0.803	T	0.76337	-0.2996	10	0.87932	D	0	-20.9064	16.3426	0.83092	1.0:0.0:0.0:0.0	.	124	P31946	1433B_HUMAN	E	124	ENSP00000300161:K124E;ENSP00000361930:K124E	ENSP00000300161:K124E	K	+	1	0	YWHAB	42966117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.255000	0.95524	2.317000	0.78254	0.460000	0.39030	AAA		0.328	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		22	40	0	0	0	1	0	22	40					G	43532703	A	G	43532703	3	3	332	1	0	0	0	0	1	0	0	0	17498	247	9	3	376	3	YWHAB	20	43532703	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		43532703	19492817	20	32706											
PLP1	5354	broad.mit.edu	37	chrX	103045489	103045489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccacttacaactttgCcgtccttaaactcatgggcc	7	14	1	0			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chrX:103045489C>T	ENST00000303958.2	+	7	943	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000418604.1_Missense_Mutation_p.A266V	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	266					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TACAACTTTGCCGTCCTTAAA	0.488																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(796-798)gCc>gTc		proteolipid protein 1							229	202	211					X																	103045489		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103045489C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.797C>T	X.37:g.103045489C>T	ENSP00000305152:p.Ala266Val					PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000303958.2_Missense_Mutation_p.A266V|PLP1_ENST00000466486.1_3'UTR	p.A266V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			8	1077	+			266					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.797C>T	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256084	0.80246	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99548	-6.14;-6.14;-6.14	5.62	5.62	0.85841	.	0.048992	0.85682	D	0.000000	D	0.99462	0.9809	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.988	D;D;D;D	0.80764	0.994;0.989;0.989;0.931	D	0.98662	1.0684	10	0.62326	D	0.03	0.0987	15.8551	0.78972	0.0:1.0:0.0:0.0	.	211;266;266;231	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	V	266;266;231;244	ENSP00000405750:A266V;ENSP00000305152:A266V;ENSP00000354860:A231V	ENSP00000305152:A266V	A	+	2	0	PLP1	102932145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.343000	0.79666	0.594000	0.82650	GCC		0.488	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			4	231	0	0	0	1	0	4	231					T	103045489	C	T	103045489	3	4	332	1	0	0	0	0	1	0	0	0	12104	739	26	2	823	2	PLP1	23	103045489	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		103045489	52225071	21	32707											
HIVEP3	59269	broad.mit.edu	37	chr1	42048550	42048550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttacattcgtagatcaccCcttttgttttcaaacccttc	4	12	2	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:42048550C>A	ENST00000372583.1	-	4	2804	c.1919G>T	c.(1918-1920)gGg>gTg	p.G640V	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	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)				GTAGATCACCCCTTTTGTTTT	0.473																																						ENST00000372584.1																			0				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						c.(1918-1920)gGg>gTg		human immunodeficiency virus type I enhancer binding protein 3							140	138	139					1																	42048550		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048550C>A	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.1919G>T	1.37:g.42048550C>A	ENSP00000361664:p.Gly640Val					HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V	p.G640V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2933	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	640			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1919G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532653	0.45073	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000058	T	0.49541	0.1563	M	0.69358	2.11	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.50742	-0.8792	10	0.51188	T	0.08	3.3037	16.914	0.86147	0.0:1.0:0.0:0.0	.	640;640	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	640	ENSP00000361665:G640V;ENSP00000361664:G640V;ENSP00000247584:G640V;ENSP00000410828:G640V	ENSP00000247584:G640V	G	-	2	0	HIVEP3	41821137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.345000	0.59360	2.326000	0.78906	0.555000	0.69702	GGG		0.473	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	120	1	0	0.00307968	1	0.00326084	7	120					A	42048550	C	A	42048550	3	1	333	1	0	0	0	0	1	0	0	0	7188	623	22	4	5325	4	HIVEP3	1	42048550	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		42048550	207202071	1	32708											
TTC13	79573	broad.mit.edu	37	chr1	231079620	231079620	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tactcggctcagttcgaacaGagcaagctcagcattcttaa	8	11	3	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:231079620G>C	ENST00000366661.4	-	6	611	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	202										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGTTCGAACAGAGCAAGCTCA	0.413																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(604-606)Ctg>Gtg		tetratricopeptide repeat domain 13							121	118	119					1																	231079620		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231079620G>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.604C>G	1.37:g.231079620G>C	ENSP00000355621:p.Leu202Val					TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	p.L202V	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	6	611	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	202					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.604C>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587267	0.46110	.	.	ENSG00000143643	ENST00000366661	T	0.42513	0.97	5.61	1.72	0.24424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000006	T	0.53481	0.1799	L	0.52823	1.66	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.50048	-0.8873	10	0.49607	T	0.09	-12.6155	9.5198	0.39129	0.4434:0.0:0.5566:0.0	.	202	Q8NBP0	TTC13_HUMAN	V	202	ENSP00000355621:L202V	ENSP00000355621:L202V	L	-	1	2	TTC13	229146243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.132000	0.31418	0.512000	0.28257	0.591000	0.81541	CTG		0.413	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		7	77	0	0	0	1	0	7	77					C	231079620	G	C	231079620	3	2	333	1	0	0	0	0	1	0	0	0	16677	933	33	4	2050	4	TTC13	1	231079620	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	189031070	231079620	18171001	2	32709											
ANKRD36	375248	broad.mit.edu	37	chr2	97853077	97853077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattcaggctacaactgaCgaggaagactctgtttcgaa	9	10	2	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:97853077C>T	ENST00000461153.2	+	32	2326	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D	ANKRD36_ENST00000420699.2_Silent_p.D694D			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	694										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTACAACTGACGAGGAAGACT	0.303																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2080-2082)gaC>gaT		ankyrin repeat domain 36							34	28	30					2																	97853077		692	1590	2282	SO:0001819	synonymous_variant	375248							g.chr2:97853077C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2082C>T	2.37:g.97853077C>T						ANKRD36_ENST00000461153.2_Silent_p.D694D	p.D694D	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			32	2326	+			694					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.2082C>T	CCDS54379.1																																																																																				0.303	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	10	0	0	0	1	0	5	10					T	97853077	C	T	97853077	2	4	333	1	0	0	0	0	0	0	0	1	665	535	19	1		1	ANKRD36	2	97853077	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		97853077	145346296	3	32710											
MAP1D	254042	broad.mit.edu	37	chr2	172945092	172945092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacggttctgatcacgtcGaggggcgcgcagatcctgac	13	13	2	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:172945092G>A	ENST00000315796.4	+	10	1353	c.966G>A	c.(964-966)tcG>tcA	p.S322S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	322					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						TGATCACGTCGAGGGGCGCGC	0.612																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(964-966)tcG>tcA		methionyl aminopeptidase type 1D (mitochondrial)							94	97	96					2																	172945092		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172945092G>A	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.966G>A	2.37:g.172945092G>A						METAP1D_ENST00000488581.1_3'UTR	p.S322S	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			10	1353	+			322					Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.966G>A	CCDS2246.1																																																																																				0.612	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		10	110	0	0	0	1	0	10	110					A	172945092	G	A	172945092	2	1	333	1	0	0	0	0	0	0	0	1	9229	1045	37	1		1	MAP1D	2	172945092	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	75092015	172945092	70254281	4	32711											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	21	0	0	0	1	0	18	21					C	209113113	G	C	209113113	3	2	333	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	36168021	209113113	34086260	5	32712											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405102	50405102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactcgggtgatgccaccGtctgtggcagcgaacacggc	14	12	1	2	rs375235408		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:50405102G>A	ENST00000479441.1	-	27	2288	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000435965.1_Silent_p.D763D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGATGCCACCGTCTGTGGCAG	0.642																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2287-2289)gaC>gaT		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)	G	,,	1,4405	2.1+/-5.4	0,1,2202	79	77	78		2268,2289,2268	-10.8	0.1	3		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	756/1146,763/1151,756/1144	50405102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50405102G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2289C>T	3.37:g.50405102G>A						XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D|CACNA2D2_ENST00000360963.3_Silent_p.D687D	p.D763D			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	27	2462	-			763					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.2289C>T	CCDS54588.1																																																																																				0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		13	11	0	0	0	1	0	13	11					A	50405102	G	A	50405102	2	1	333	1	0	0	0	0	0	0	0	1	2549	1136	40	1		1	CACNA2D2	3	50405102	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		50405102	147617328	6	32713											
C3orf58	205428	broad.mit.edu	37	chr3	143708448	143708448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaaattctttgtgctcGtgccactgtggaccacaatt	8	9	1	1	rs201605316		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:143708448G>A	ENST00000315691.3	+	3	1593	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	353					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTGTGCTCGTGCCACTGTG	0.433																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1057-1059)cGt>cAt		chromosome 3 open reading frame 58							123	117	119					3																	143708448		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708448G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"deleted in autism 1", "hypoxia and Akt induced stem cell factor"	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1058G>A	3.37:g.143708448G>A	ENSP00000320081:p.Arg353His					C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H|C3orf58_ENST00000493396.1_Intron	p.R353H	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1593	+			353					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1058G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466926	0.26335	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.28255	1.62	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.27053	0.805	0.58432	D	0.999996	B;D	0.76494	0.03;0.999	B;D	0.74674	0.009;0.984	T	0.06250	-1.0837	10	0.07644	T	0.81	.	19.6476	0.95789	0.0:0.0:1.0:0.0	.	144;353	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	H	353;144;159;115	ENSP00000320081:R353H	ENSP00000320081:R353H	R	+	2	0	C3orf58	145191138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.653000	0.90120	0.655000	0.94253	CGT		0.433	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		5	58	0	0	0	1	0	5	58					A	143708448	G	A	143708448	3	1	333	1	0	0	0	0	1	0	0	0	2236	1145	40	1	1102	1	C3orf58	3	143708448	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	93303346	143708448	54313982	7	32714											
ZDHHC19	131540	broad.mit.edu	37	chr3	195935376	195935376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaagcagcatgaagaagCggaagttgcggtgaccgatg	16	7	0	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195935376C>T	ENST00000296326.3	-	4	543	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	155						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATGAAGAAGCGGAAGTTGCG	0.597																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(463-465)cGc>cAc		zinc finger, DHHC-type containing 19							124	143	137					3																	195935376		2191	4279	6470	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195935376C>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.464G>A	3.37:g.195935376C>T	ENSP00000296326:p.Arg155His					ZDHHC19_ENST00000488508.1_5'UTR	p.R155H	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	4	543	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		155					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.464G>A	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489090	0.96323	.	.	ENSG00000163958	ENST00000296326	T	0.27402	1.67	5.61	5.61	0.85477	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.56097	D	0.000027	T	0.57460	0.2055	M	0.78049	2.395	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.60919	-0.7167	10	0.87932	D	0	-36.9256	15.126	0.72483	0.0:1.0:0.0:0.0	.	155	Q8WVZ1	ZDH19_HUMAN	H	155	ENSP00000296326:R155H	ENSP00000296326:R155H	R	-	2	0	ZDHHC19	197419773	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.269000	0.58890	2.638000	0.89438	0.561000	0.74099	CGC		0.597	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		20	27	0	0	0	1	0	20	27					T	195935376	C	T	195935376	3	4	333	1	0	0	0	0	1	0	0	0	17606	768	27	1	481	1	ZDHHC19	3	195935376	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	52226928	195935376	2087054	8	32715											
GABRG1	2565	broad.mit.edu	37	chr4	46053576	46053576	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagaaacaaagagatccatCgcagtcacataagaaacctt	6	10	1	3	rs143206194	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr4:46053576C>T	ENST00000295452.4	-	8	1163	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	332					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)	AGAGATCCATCGCAGTCACAT	0.378													C|||	4	0.000798722	0.0	0.0	5008	,	,		14682	0.0		0.004	False		,,,				2504	0.0					ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(994-996)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, gamma 1		C		4,4402	8.1+/-20.4	0,4,2199	109	99	102		996	-2.5	1	4	dbSNP_134	102	17,8583	11.9+/-42.8	0,17,4283	no	coding-synonymous	GABRG1	NM_173536.3		0,21,6482	TT,TC,CC		0.1977,0.0908,0.1615		332/466	46053576	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053576C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.996G>A	4.37:g.46053576C>T							p.A332A	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1163	-			332					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.996G>A	CCDS3470.1																																																																																				0.378	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		3	45	0	0	0	1	0	3	45					T	46053576	C	T	46053576	2	4	333	1	0	0	0	0	0	0	0	1	6171	871	31	1		1	GABRG1	4	46053576	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		46053576	145100700	9	32716											
CPVL	54504	broad.mit.edu	37	chr7	29160567	29160567	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatggctgtcctgagtcTcccttaggtggcatggaaac	11	9	1	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:29160567T>C	ENST00000409850.1	-	6	757	c.111A>G	c.(109-111)ggA>ggG	p.G37G	CPVL_ENST00000396276.3_Silent_p.G37G|CPVL_ENST00000265394.5_Silent_p.G37G|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	37						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						GTCCTGAGTCTCCCTTAGGTG	0.463																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(109-111)ggA>ggG		carboxypeptidase, vitellogenic-like							109	100	103					7																	29160567		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29160567T>C	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.111A>G	7.37:g.29160567T>C						CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.G37G|CPVL_ENST00000396276.3_Silent_p.G37G	p.G37G			Q9H3G5	CPVL_HUMAN			6	757	-			37					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.111A>G	CCDS5419.1																																																																																				0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		4	68	0	0	0	1	0	4	68					C	29160567	T	C	29160567	2	2	333	1	0	0	0	0	0	0	0	1	3835	1538	54	3		3	CPVL	7	29160567	Silent	SNP	T	TCGA-HT-A74O-01A-11D-A32B-08		29160567	129978096	10	32717											
SEMA3C	10512	broad.mit.edu	37	chr7	80457916	80457916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacactcaaagcttcttgActtatattgttaatattcag	4	8	3	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:80457916A>G	ENST00000265361.3	-	3	810	c.249T>C	c.(247-249)agT>agC	p.S83S	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000544525.1_Silent_p.S101S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	83	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTTCTTGACTTATATTGT	0.313																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(247-249)agT>agC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							102	105	104					7																	80457916		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80457916A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.249T>C	7.37:g.80457916A>G						SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000544525.1_Silent_p.S101S	p.S83S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			3	810	-			83			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.249T>C	CCDS5596.1																																																																																				0.313	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		25	27	0	0	0	1	0	25	27					G	80457916	A	G	80457916	2	3	333	1	0	0	0	0	0	0	0	1	14026	272	10	3		3	SEMA3C	7	80457916	Silent	SNP	A	TCGA-HT-A74O-01A-11D-A32B-08	51297349	80457916	78680747	11	32718											
MGAM	8972	broad.mit.edu	37	chr7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagggcgtcactgttgtgCggcctctgctccatgagtga	15	11	2	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:141795497C>T	ENST00000549489.2	+	41	4998	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000475668.2_Missense_Mutation_p.R2531W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	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)	CACTGTTGTGCGGCCTCTGCT	0.468																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7591-7593)Cgg>Tgg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						194	178	184					7																	141795497		1977	4152	6129	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141795497C>T	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.4903C>T	7.37:g.141795497C>T	ENSP00000447378:p.Arg1635Trp					MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W	p.R2531W			O43451	MGA_HUMAN			64	7645	+	Melanoma(164;0.0272)		1635					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.7591C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463792	0.43736	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.95001	-3.58	5.57	2.69	0.31865	.	.	.	.	.	D	0.98592	0.9529	H	0.99634	4.67	0.32045	N	0.597744	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	9	0.87932	D	0	.	14.247	0.65995	0.3859:0.6141:0.0:0.0	.	1635	O43451	MGA_HUMAN	W	1635;2532	ENSP00000447378:R1635W	ENSP00000373973:R1635W	R	+	1	2	MGAM	141441966	0.998000	0.40836	0.981000	0.43875	0.153000	0.21895	3.886000	0.56190	0.347000	0.23924	-0.169000	0.13324	CGG		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	189	0	0	0	1	0	5	189					T	141795497	C	T	141795497	3	4	333	1	0	0	0	0	1	0	0	0	9541	759	27	1	5061	1	MGAM	7	141795497	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	61337581	141795497	17343166	12	32719											
PREX2	80243	broad.mit.edu	37	chr8	69009322	69009322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgtgagtctgacagtggaCaatgtccacctggaatatgg	12	8	1	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr8:69009322C>A	ENST00000288368.4	+	22	2716	c.2439C>A	c.(2437-2439)gaC>gaA	p.D813E	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	813					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACAGTGGACAATGTCCACC	0.438																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2437-2439)gaC>gaA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							189	163	172					8																	69009322		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69009322C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2439C>A	8.37:g.69009322C>A	ENSP00000288368:p.Asp813Glu					PREX2_ENST00000529398.1_3'UTR	p.D813E	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			22	2716	+			813					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2439C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872908	0.72180	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.43688	0.94	6.16	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.50333	1.59	0.50171	D	0.999859	P;P;P	0.50617	0.839;0.937;0.72	P;P;P	0.53006	0.715;0.62;0.574	T	0.41945	-0.9480	10	0.52906	T	0.07	.	11.6603	0.51343	0.0:0.61:0.0:0.39	.	813;813;813	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	E	813	ENSP00000288368:D813E	ENSP00000288368:D813E	D	+	3	2	PREX2	69171876	0.984000	0.35163	0.997000	0.53966	0.994000	0.84299	0.213000	0.17521	0.343000	0.23821	0.650000	0.86243	GAC		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		5	59	1	0	1.23904e-05	1	1.39392e-05	5	59					A	69009322	C	A	69009322	3	1	333	1	0	0	0	0	1	0	0	0	12477	477	17	4	2525	4	PREX2	8	69009322	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		69009322	77354700	13	32720											
SPIN1	10927	broad.mit.edu	37	chr9	91090141	91090141	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgtctatttcatcaaGtttgatgatgatttccatat	5	10	3	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:91090141G>C	ENST00000375859.3	+	6	1016	c.738G>C	c.(736-738)aaG>aaC	p.K246N	SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	246	Tudor-like domain 3.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ATTTCATCAAGTTTGATGATG	0.383																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(736-738)aaG>aaC		spindlin 1							91	94	93					9																	91090141		2196	4299	6495	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91090141G>C	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"spindlin"	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.738G>C	9.37:g.91090141G>C	ENSP00000365019:p.Lys246Asn					SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N	p.K246N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			6	1016	+			246					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.738G>C	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132232	0.77662	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.60548	0.18;0.18	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77763	-0.2466	10	0.87932	D	0	-10.2499	13.8835	0.63696	0.0721:0.0:0.9279:0.0	.	246	Q9Y657	SPIN1_HUMAN	N	246	ENSP00000365019:K246N;ENSP00000441864:K246N	ENSP00000365019:K246N	K	+	3	2	SPIN1	90279961	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.071000	0.71229	2.885000	0.99019	0.655000	0.94253	AAG		0.383	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		26	36	0	0	0	1	0	26	36					C	91090141	G	C	91090141	3	2	333	1	0	0	0	0	1	0	0	0	15051	1020	36	4	756	4	SPIN1	9	91090141	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		91090141	50123290	14	32721											
HIATL1	84641	broad.mit.edu	37	chr9	97177508	97177508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgaattctttgcgtgGggcctgttgacaactccaat	9	10	1	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:97177508G>T	ENST00000375344.3	+	2	446	c.177G>T	c.(175-177)tgG>tgT	p.W59C	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TCTTTGCGTGGGGCCTGTTGA	0.393																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(175-177)tgG>tgT		hippocampus abundant transcript-like 1							207	186	193					9																	97177508		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97177508G>T	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.177G>T	9.37:g.97177508G>T	ENSP00000364493:p.Trp59Cys					HIATL1_ENST00000428393.2_5'UTR	p.W59C	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN			2	446	+		Acute lymphoblastic leukemia(62;0.136)	59					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.177G>T	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190641	0.58017	.	.	ENSG00000148110	ENST00000375344	T	0.81163	-1.46	3.8	3.8	0.43715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192723	0.35407	N	0.003227	D	0.90625	0.7060	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92378	0.5911	10	0.72032	D	0.01	-2.1469	13.5621	0.61795	0.0:0.0:1.0:0.0	.	59	Q5SR56	HIAL1_HUMAN	C	59	ENSP00000364493:W59C	ENSP00000364493:W59C	W	+	3	0	HIATL1	96217329	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.410000	0.80065	2.131000	0.65755	0.305000	0.20034	TGG		0.393	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		40	93	1	0	3.4345e-17	1	3.98845e-17	40	93					T	97177508	G	T	97177508	3	4	333	1	0	0	0	0	1	0	0	0	7098	1241	43	4	183	4	HIATL1	9	97177508	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	6087367	97177508	44035923	15	32722											
OR8H3	390152	broad.mit.edu	37	chr11	55889935	55889935	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccagatggctctgttTatgctatttctcctcatata	8	9	3	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:55889935T>A	ENST00000313472.3	+	1	87	c.87T>A	c.(85-87)ttT>ttA	p.F29L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCTCTGTTTATGCTATTTC	0.453																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(85-87)ttT>ttA		olfactory receptor, family 8, subfamily H, member 3							220	212	215					11																	55889935		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55889935T>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.87T>A	11.37:g.55889935T>A	ENSP00000323928:p.Phe29Leu						p.F29L	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	87	+	Esophageal squamous(21;0.00693)		29					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.87T>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	7.602	0.672928	0.14776	.	.	ENSG00000181761	ENST00000313472	T	0.04454	3.62	3.43	-2.95	0.05564	.	0.408289	0.21489	N	0.073718	T	0.06826	0.0174	M	0.76938	2.355	0.09310	N	1	B	0.28552	0.215	B	0.32465	0.146	T	0.21552	-1.0242	10	0.59425	D	0.04	.	5.8452	0.18661	0.1266:0.3703:0.0:0.5031	.	29	Q8N146	OR8H3_HUMAN	L	29	ENSP00000323928:F29L	ENSP00000323928:F29L	F	+	3	2	OR8H3	55646511	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.104000	0.03326	-0.412000	0.07519	0.136000	0.15936	TTT		0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		61	110	0	0	0	1	0	61	110					A	55889935	T	A	55889935	3	1	333	1	0	0	0	0	1	0	0	0	11239	1751	61	5	89	5	OR8H3	11	55889935	Missense_Mutation	SNP	T	TCGA-HT-A74O-01A-11D-A32B-08		55889935	79116581	16	32723											
VWA5A	4013	broad.mit.edu	37	chr11	123988900	123988900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtgcttctcaggcccGcaccaactatgagaaagcca	9	15	1	1	rs550858587	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:123988900G>A	ENST00000456829.2	+	5	502	c.251G>A	c.(250-252)cGc>cAc	p.R84H	VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	84	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									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						TCTCAGGCCCGCACCAACTAT	0.552													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18502	0.001		0.0	False		,,,				2504	0.0					ENST00000456829.2																			0				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						c.(250-252)cGc>cAc		von Willebrand factor A domain containing 5A							40	41	41					11																	123988900		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123988900G>A	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.251G>A	11.37:g.123988900G>A	ENSP00000407726:p.Arg84His					VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H	p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			5	502	+			84			VIT.		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.251G>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	3.080	-0.189188	0.06299	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.5	0.143	0.14820	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.969271	0.08640	N	0.915721	T	0.10594	0.0259	N	0.04746	-0.17	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.15870	0.014;0.009	T	0.37079	-0.9721	10	0.20046	T	0.44	-1.6539	4.7098	0.12867	0.4215:0.2973:0.2812:0.0	.	100;84	B4DHS6;O00534	.;VMA5A_HUMAN	H	84;84;84;84;84;84;84;100	ENSP00000407726:R84H;ENSP00000353485:R84H;ENSP00000376504:R84H;ENSP00000355070:R84H;ENSP00000404683:R84H;ENSP00000376501:R100H	ENSP00000353485:R84H	R	+	2	0	VWA5A	123494110	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.612000	0.24283	-0.222000	0.09958	-0.793000	0.03317	CGC		0.552	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		3	47	0	0	0	1	0	3	47					A	123988900	G	A	123988900	3	1	333	1	0	0	0	0	1	0	0	0	17239	1087	38	1	261	1	VWA5A	11	123988900	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	68098965	123988900	11017616	17	32724											
LRTM2	654429	broad.mit.edu	37	chr12	1940299	1940299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaagctgggctttcgCcaacctctccagcctgcagc	9	18	1	0			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:1940299C>T	ENST00000543818.1	+	4	1108	c.266C>T	c.(265-267)gCc>gTc	p.A89V	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	89						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGGGCTTTCGCCAACCTCTCC	0.622																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(265-267)gCc>gTc		leucine-rich repeats and transmembrane domains 2							57	65	62					12																	1940299		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr12:1940299C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.266C>T	12.37:g.1940299C>T	ENSP00000446278:p.Ala89Val					CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron	p.A89V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1108	+	Ovarian(42;0.107)		89					A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.266C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204286	0.58234	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000546167;ENST00000543694	T;T;T;D;D	0.83837	0.63;0.63;0.63;-1.77;-1.77	5.04	5.04	0.67666	.	0.205273	0.51477	D	0.000087	T	0.78629	0.4313	L	0.41573	1.285	0.47778	D	0.999513	B	0.24092	0.097	B	0.23150	0.044	T	0.74677	-0.3585	10	0.39692	T	0.17	.	18.3994	0.90511	0.0:1.0:0.0:0.0	.	89	Q8N967	LRTM2_HUMAN	V	89	ENSP00000446278:A89V;ENSP00000299194:A89V;ENSP00000444737:A89V;ENSP00000438678:A89V;ENSP00000444104:A89V	ENSP00000299194:A89V	A	+	2	0	LRTM2	1810560	0.998000	0.40836	0.992000	0.48379	0.990000	0.78478	3.812000	0.55628	2.345000	0.79718	0.561000	0.74099	GCC		0.622	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			4	110	0	0	0	1	0	4	110					T	1940299	C	T	1940299	3	4	333	1	0	0	0	0	1	0	0	0	9045	739	26	2	272	2	LRTM2	12	1940299	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		1940299	131911596	18	32725											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75763881	75763881	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagaaaatccatttctgaaGccaacggggagagcacctca	9	11	2	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:75763881G>C	ENST00000378695.4	+	6	744	c.654G>C	c.(652-654)aaG>aaC	p.K218N	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.K209N|GLIPR1L1_ENST00000548623.1_3'UTR			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	218					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						CATTTCTGAAGCCAACGGGGA	0.318																																						ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(625-627)aaG>aaC		GLI pathogenesis-related 1 like 1							75	80	78					12																	75763881		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75763881G>C	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.654G>C	12.37:g.75763881G>C	ENSP00000367967:p.Lys218Asn					GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.K218N|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR	p.K209N	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			5	673	+			218					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.627G>C		.	.	.	.	.	.	.	.	.	.	G	0.021	-1.431592	0.01108	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.08370	3.1;3.11	3.63	-7.27	0.01461	.	1.016090	0.07928	N	0.977016	T	0.03136	0.0092	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46233	-0.9206	10	0.06891	T	0.86	.	1.1816	0.01846	0.3212:0.0969:0.1544:0.4275	.	218;209	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	N	218;209	ENSP00000367967:K218N;ENSP00000310770:K209N	ENSP00000310770:K209N	K	+	3	2	GLIPR1L1	74050148	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.894000	0.04123	-1.692000	0.01428	-0.320000	0.08662	AAG		0.318	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		18	33	0	0	0	1	0	18	33					C	75763881	G	C	75763881	3	2	333	1	0	0	0	0	1	0	0	0	6442	962	34	4	645	4	GLIPR1L1	12	75763881	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	73823582	75763881	58088014	19	32726											
KIAA0895L	653319	broad.mit.edu	37	chr16	67210813	67210813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccaagtcctgcatgaaGtggggcacccgggtattatc	13	11	0	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr16:67210813G>A	ENST00000290881.7	-	8	2243	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000563831.2_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	439										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCTGCATGAAGTGGGGCACCC	0.632																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1315-1317)caC>caT		KIAA0895-like							80	88	85					16																	67210813		2105	4233	6338	SO:0001819	synonymous_variant	653319							g.chr16:67210813G>A	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.1317C>T	16.37:g.67210813G>A						KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000561679.1_Silent_p.H284H	p.H439H			Q68EN5	K895L_HUMAN			8	2243	-			439					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.1317C>T	CCDS42177.1																																																																																				0.632	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	96	0	0	0	1	0	8	96					A	67210813	G	A	67210813	2	1	333	1	0	0	0	0	0	0	0	1	8198	1020	36	2		2	KIAA0895L	16	67210813	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		67210813	23143940	20	32727											
TP53	7157	broad.mit.edu	37	chr17	7578547	7578549	+	In_Frame_Del	DEL	GGG	GGG	-													aaaacatcttgttgagggcaGgggagtactgtaggaagagg							TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:7578547_7578549delGGG	ENST00000269305.4	-	5	570_572	c.381_383delCCC	c.(379-384)tcccct>tct	p.P128del	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.P128del|TP53_ENST00000420246.2_In_Frame_Del_p.P128del|TP53_ENST00000413465.2_In_Frame_Del_p.P128del|TP53_ENST00000445888.2_In_Frame_Del_p.P128del|TP53_ENST00000455263.2_In_Frame_Del_p.P128del	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	128	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (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.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*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)	GTTGAGGGCAGGGGAGTACTGTA	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		44	Substitution - Missense(13)|Deletion - In frame(11)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(1)	breast(7)|upper_aerodigestive_tract(4)|central_nervous_system(4)|ovary(4)|bone(4)|large_intestine(3)|lung(3)|skin(3)|oesophagus(3)|stomach(2)|urinary_tract(2)|biliary_tract(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|liver(1)|prostate(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						c.(379-384)tct>tc	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578547_7578549delGGG	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.381_383delCCC	17.37:g.7578547_7578549delGGG	ENSP00000269305:p.Pro128del	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)				TP53_ENST00000359597.4_In_Frame_Del_p.SP127del|TP53_ENST00000445888.2_In_Frame_Del_p.SP127del|TP53_ENST00000455263.2_In_Frame_Del_p.SP127del|TP53_ENST00000269305.4_In_Frame_Del_p.SP127del|TP53_ENST00000413465.2_In_Frame_Del_p.SP127del	p.SP127del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	513_515	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	In_Frame_Del	DEL	ENST00000269305.4	37	c.381_383delCCC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	11						19	11	---	---	---	---	-	7578549	GGG	-	7578547	7	5	333	1	0	1	0	1	0	0	0	0	16378	1000	35	0	915	0	TP53	17	7578547	In_Frame_Del	DEL	GGG	TCGA-HT-A74O-01A-11D-A32B-08		7578547	73616663	21	32728											
LLGL2	3993	broad.mit.edu	37	chr17	73567853	73567853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatggatgagcctgtgcGggcagagcagggtgagtgct	19	6	0	4			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:73567853G>A	ENST00000392550.3	+	18	2399	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	761					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)			GAGCCTGTGCGGGCAGAGCAG	0.697																																						ENST00000392550.3																			0				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						c.(2281-2283)cGg>cAg		lethal giant larvae homolog 2 (Drosophila)							28	30	29					17																	73567853		2202	4298	6500	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567853G>A	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.2282G>A	17.37:g.73567853G>A	ENSP00000376333:p.Arg761Gln					LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q|LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q	p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		18	2399	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		761					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2282G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926284	0.52759	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.04758	3.56;3.68	5.4	5.4	0.78164	.	0.764751	0.12440	N	0.468774	T	0.05686	0.0149	L	0.34521	1.04	0.30773	N	0.742872	P;P;P;B;B	0.45634	0.485;0.785;0.863;0.305;0.342	B;B;B;B;B	0.41666	0.09;0.199;0.363;0.09;0.042	T	0.19943	-1.0290	10	0.15499	T	0.54	-3.2477	14.7369	0.69422	0.0:0.1445:0.8555:0.0	.	388;750;750;761;761	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	761;761;750	ENSP00000167462:R761Q;ENSP00000376333:R761Q	ENSP00000167462:R761Q	R	+	2	0	LLGL2	71079448	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.125000	0.50469	2.544000	0.85801	0.549000	0.68633	CGG		0.697	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		9	17	0	0	0	1	0	9	17					A	73567853	G	A	73567853	3	1	333	1	0	0	0	0	1	0	0	0	8834	1116	39	1	2383	1	LLGL2	17	73567853	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	65989306	73567853	7627357	22	32729											
PTBP1	5725	broad.mit.edu	37	chr19	804864	804864	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcacagtgttgaagatcatCaccttcaccaagaacaacca	7	12	3	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:804864C>G	ENST00000349038.4	+	7	715	c.642C>G	c.(640-642)atC>atG	p.I214M	PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M|PTBP1_ENST00000356948.6_Missense_Mutation_p.I214M	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	214	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		TGAAGATCATCACCTTCACCA	0.652																																						ENST00000356948.6																			0				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						c.(640-642)atC>atG		polypyrimidine tract binding protein 1							106	95	98					19																	804864		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804864C>G	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.642C>G	19.37:g.804864C>G	ENSP00000014112:p.Ile214Met					PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M|PTBP1_ENST00000349038.4_Missense_Mutation_p.I214M	p.I214M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		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)	7	1065	+		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)	214			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.642C>G	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610850	0.46527	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50277	0.77;0.75;1.03	5.22	0.393	0.16294	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050167	0.85682	D	0.000000	T	0.58750	0.2144	M	0.68593	2.085	0.80722	D	1	D;D;D	0.67145	0.992;0.994;0.996	D;D;D	0.77557	0.99;0.977;0.99	T	0.58601	-0.7608	10	0.87932	D	0	-60.1549	6.2028	0.20585	0.1366:0.5589:0.0:0.3045	.	214;214;214	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	M	214	ENSP00000349428:I214M;ENSP00000408096:I214M;ENSP00000014112:I214M	ENSP00000014112:I214M	I	+	3	3	PTBP1	755864	0.969000	0.33509	0.880000	0.34516	0.540000	0.34992	0.102000	0.15272	0.597000	0.29811	0.655000	0.94253	ATC		0.652	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			7	82	0	0	0	1	0	7	82					G	804864	C	G	804864	3	3	333	1	0	0	0	0	1	0	0	0	12725	816	29	4	668	4	PTBP1	19	804864	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		804864	58324119	23	32730											
C3	718	broad.mit.edu	37	chr19	6702552	6702552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaactcacttcgggaaaCgatgttctcttctgcaatga	10	9	3	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6702552C>T	ENST00000245907.6	-	18	2376	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	762					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)	CTTCGGGAAACGATGTTCTCT	0.532																																						ENST00000245907.6																			0				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						c.(2284-2286)Gtt>Att		complement component 3							138	124	128					19																	6702552		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702552C>T	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.2284G>A	19.37:g.6702552C>T	ENSP00000245907:p.Val762Ile						p.V762I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	18	2376	-			762					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2284G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	0.273	-0.991706	0.02162	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	5.58	-3.8	0.04307	.	0.672387	0.15225	N	0.273716	T	0.14098	0.0341	N	0.04805	-0.155	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.17369	T	0.5	.	17.5258	0.87800	0.0:0.771:0.0:0.229	.	762	P01024	CO3_HUMAN	I	762	ENSP00000245907:V762I	ENSP00000245907:V762I	V	-	1	0	C3	6653552	0.000000	0.05858	0.206000	0.23566	0.035000	0.12851	-1.394000	0.02518	-0.932000	0.03742	-0.345000	0.07892	GTT		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	84	0	0	0	1	0	4	84					T	6702552	C	T	6702552	3	4	333	1	0	0	0	0	1	0	0	0	2204	536	19	1	2803	1	C3	19	6702552	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	5897688	6702552	52426431	24	32731											
C3	718	broad.mit.edu	37	chr19	6718337	6718337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggctgaccagcaccaccttCtccaccacttgggtcccgaa	8	17	1	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6718337C>G	ENST00000245907.6	-	3	446	c.354G>C	c.(352-354)gaG>gaC	p.E118D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	118					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)	GCACCACCTTCTCCACCACTT	0.612																																						ENST00000245907.6																			0				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						c.(352-354)gaG>gaC		complement component 3							105	88	94					19																	6718337		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718337C>G	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.354G>C	19.37:g.6718337C>G	ENSP00000245907:p.Glu118Asp						p.E118D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	446	-			118					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.354G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777870	0.49786	.	.	ENSG00000125730	ENST00000245907	T	0.37915	1.17	4.91	2.77	0.32553	.	0.795586	0.11579	N	0.549971	T	0.49115	0.1538	M	0.89715	3.055	0.41976	D	0.990779	P	0.37061	0.58	B	0.40134	0.32	T	0.55879	-0.8071	10	0.54805	T	0.06	.	10.027	0.42076	0.0:0.8288:0.0:0.1712	.	118	P01024	CO3_HUMAN	D	118	ENSP00000245907:E118D	ENSP00000245907:E118D	E	-	3	2	C3	6669337	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	1.212000	0.32394	1.078000	0.41014	0.454000	0.30748	GAG		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		3	53	0	0	0	1	0	3	53					G	6718337	C	G	6718337	3	3	333	1	0	0	0	0	1	0	0	0	2204	912	32	4	4793	4	C3	19	6718337	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	15785	6718337	52410646	25	32732											
MUC16	94025	broad.mit.edu	37	chr19	9057506	9057506	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagttgagtgggtccttgcCaagggggctgttgttgtggc	17	7	0	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:9057506C>A	ENST00000397910.4	-	3	30143	c.29940G>T	c.(29938-29940)ttG>ttT	p.L9980F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9982	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)				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						GGGTCCTTGCCAAGGGGGCTG	0.463																																						ENST00000397910.4																			0				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						c.(29938-29940)ttG>ttT		mucin 16, cell surface associated							196	191	192					19																	9057506		1943	4141	6084	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057506C>A	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.29940G>T	19.37:g.9057506C>A	ENSP00000381008:p.Leu9980Phe						p.L9980F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30143	-			9982			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29940G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.575	-0.086749	0.07097	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	2.03	0.878	0.19150	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	.	.	.	P	0.39809	0.689	B	0.41332	0.354	T	0.16748	-1.0392	8	0.87932	D	0	.	6.1308	0.20204	0.0:0.6764:0.3236:0.0	.	9980	B5ME49	.	F	9980	ENSP00000381008:L9980F	ENSP00000381008:L9980F	L	-	3	2	MUC16	8918506	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.179000	0.16840	0.355000	0.24131	0.460000	0.39030	TTG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	165	1	0	0.000673444	1	0.000734666	10	165					A	9057506	C	A	9057506	3	1	333	1	0	0	0	0	1	0	0	0	9973	593	21	4	13911	4	MUC16	19	9057506	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	2339169	9057506	50071477	26	32733											
ZNF536	9745	broad.mit.edu	37	chr19	30935438	30935438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgtggagaaggcacaCatcacggccgagtcggccca	13	14	1	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:30935438C>T	ENST00000355537.3	+	2	1116	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	323					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)					AGAAGGCACACATCACGGCCG	0.657																																						ENST00000355537.3																			0				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						c.(967-969)caC>caT		zinc finger protein 536							90	101	97					19																	30935438		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935438C>T		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.969C>T	19.37:g.30935438C>T							p.H323H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1116	+	Esophageal squamous(110;0.0834)		323					A2RU18	Silent	SNP	ENST00000355537.3	37	c.969C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	169	0	0	0	1	0	6	169					T	30935438	C	T	30935438	2	4	333	1	0	0	0	0	0	0	0	1	17971	477	17	2		2	ZNF536	19	30935438	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	21877932	30935438	28193545	27	32734											
PHF20	51230	broad.mit.edu	37	chr20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccttaaagacagaaaagCgacccaagcagcctgataaa	7	11	0	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr20:34451082C>T	ENST00000374012.3	+	6	697	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				chromatin organization (GO:0006325)|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)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(568-570)Cga>Tga		PHD finger protein 20							110	107	108					20																	34451082		2203	4300	6503	SO:0001587	stop_gained	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34451082C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.568C>T	20.37:g.34451082C>T	ENSP00000363124:p.Arg190*					PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*	p.R190*			Q9BVI0	PHF20_HUMAN			6	697	+	Breast(12;0.00631)|all_lung(11;0.0145)		190			Lys-rich.		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Nonsense_Mutation	SNP	ENST00000374012.3	37	c.568C>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905127	0.72868	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000;ENST00000449988	.	.	.	5.5	1.8	0.24995	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.0216	0.71635	0.5985:0.4015:0.0:0.0	.	.	.	.	X	190;190;190;190;83	.	ENSP00000341900:R190X	R	+	1	2	PHF20	33914496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.713000	0.25794	0.667000	0.31107	0.561000	0.74099	CGA		0.383	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		14	73	0	0	0	1	0	14	73					T	34451082	C	T	34451082	4	4	333	1	0	0	0	0	0	1	0	0	11831	760	27	1	586	1	PHF20	20	34451082	Nonsense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		34451082	28574438	28	32735											
BAGE	85319	broad.mit.edu	37	chr21	11098732	11098732	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcttactgctccggcCgccatcttactgctccagcc	7	19	2	0	rs73891536	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr21:11098732C>T	ENST00000470054.1	-	0	193							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctgctccggccgccatcttac	0.632																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098732C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098732C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	193	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	183	0	0	0	1	0	6	183					T	11098732	C	T	11098732	1	4	333	0	1	0	0	0	0	0	0	0	1291	639	23	1		1	BAGE	21	11098732	RNA	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		11098732	37031163	29	32736											
ATRX	546	broad.mit.edu	37	chrX	76888722	76888725	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													aaccaaagctttgttaaataTttctttaagtttccgactct							TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chrX:76888722_76888725delTTTC	ENST00000373344.5	-	19	5318_5321	c.5104_5107delGAAA	c.(5104-5109)gaaatafs	p.EI1702fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1702	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTGTTAAATATTTCTTTAAGTTTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5104-5109)tafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76888722_76888725delTTTC	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.5104_5107delGAAA	X.37:g.76888722_76888725delTTTC	ENSP00000362441:p.Glu1702fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	p.EI1702fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			19	5318_5321	-			1702			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5104_5107delGAAA	CCDS14434.1																																																																																				0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		91	31						91	31	---	---	---	---	-	76888725	TTTC	-	76888722	7	5	333	1	0	1	0	1	0	0	0	0	1208	1493	52	0	2439	0	ATRX	23	76888722	Frame_Shift_Del	DEL	TTTC	TCGA-HT-A74O-01A-11D-A32B-08		76888722	78381838	30	32737											
SKI	6497	broad.mit.edu	37	chr1	2161050	2161050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgactcggccaactggcGggcctacatcctgctgagcc	11	16	0	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:2161050G>A	ENST00000378536.4	+	1	917	c.845G>A	c.(844-846)cGg>cAg	p.R282Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	282					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)		GCCAACTGGCGGGCCTACATC	0.642																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(844-846)cGg>cAg		v-ski avian sarcoma viral oncogene homolog							22	24	23					1																	2161050		2195	4291	6486	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2161050G>A	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.845G>A	1.37:g.2161050G>A	ENSP00000367797:p.Arg282Gln						p.R282Q	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		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)	1	917	+	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)		282					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.845G>A	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309052	0.81247	.	.	ENSG00000157933	ENST00000378536	D	0.97976	-4.64	4.39	4.39	0.52855	SAND domain-like (2);c-SKI Smad4-binding (1);	0.111694	0.64402	D	0.000013	D	0.98754	0.9581	M	0.87971	2.92	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.99679	1.0998	10	0.62326	D	0.03	-21.9811	15.9423	0.79768	0.0:0.0:1.0:0.0	.	282	P12755	SKI_HUMAN	Q	282	ENSP00000367797:R282Q	ENSP00000367797:R282Q	R	+	2	0	SKI	2150910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.650000	0.83521	1.992000	0.58205	0.393000	0.25936	CGG		0.642	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		5	12	0	0	0	0.00308	0	5	12					A	2161050	G	A	2161050	3	1	334	1	0	0	0	0	1	0	0	0	14357	1116	39	1	847	1	SKI	1	2161050	Missense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		2161050	247089571	1	32738											
C1orf168	199920	broad.mit.edu	37	chr1	57185712	57185712	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaaatctagatgttcAatgagcacatatccatctaa	5	8	3	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:57185712A>G	ENST00000343433.6	-	19	2228	c.2148T>C	c.(2146-2148)atT>atC	p.I716I		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	716										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						CTAGATGTTCAATGAGCACAT	0.259																																						ENST00000343433.6																			0				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						c.(2146-2148)atT>atC		chromosome 1 open reading frame 168							35	37	36					1																	57185712		2179	4269	6448	SO:0001819	synonymous_variant	199920							g.chr1:57185712A>G	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.2148T>C	1.37:g.57185712A>G							p.I716I	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			19	2228	-			716					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.2148T>C	CCDS30729.1																																																																																				0.259	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		8	27	0	0	0	0.004482	0	8	27					G	57185712	A	G	57185712	2	3	334	1	0	0	0	0	0	0	0	1	2012	126	5	3		3	C1orf168	1	57185712	Silent	SNP	A	TCGA-HW-7486-01A-11D-2024-08	55024662	57185712	192064909	2	32739											
SIX2	10736	broad.mit.edu	37	chr2	45236135	45236135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgaaggtgctcgcaggCgggcagcgaccacaggaagc	16	11	0	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:45236135C>T	ENST00000303077.6	-	1	434	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	39					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCGCAGGCGGGCAGCGAC	0.647																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(115-117)Gcc>Acc		SIX homeobox 2							27	28	28					2																	45236135		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45236135C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.115G>A	2.37:g.45236135C>T	ENSP00000304502:p.Ala39Thr						p.A39T	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	434	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	39					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.115G>A	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834267	0.71373	.	.	ENSG00000170577	ENST00000303077	D	0.88818	-2.43	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	L	0.52364	1.645	0.80722	D	1	P;P	0.35348	0.496;0.491	B;B	0.24848	0.056;0.056	T	0.82131	-0.0609	10	0.18276	T	0.48	-14.3008	16.7869	0.85576	0.0:1.0:0.0:0.0	.	39;39	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	T	39	ENSP00000304502:A39T	ENSP00000304502:A39T	A	-	1	0	SIX2	45089639	0.980000	0.34600	1.000000	0.80357	0.997000	0.91878	4.006000	0.57083	2.038000	0.60285	0.462000	0.41574	GCC		0.647	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			3	22	0	0	0	0.009096	0	3	22					T	45236135	C	T	45236135	3	4	334	1	0	0	0	0	1	0	0	0	14347	768	27	1	768	1	SIX2	2	45236135	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		45236135	197963238	3	32740											
TTN	7273	broad.mit.edu	37	chr2	179611497	179611497	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatttcacaccaggaacTggaagaccttcaacttcaac	5	13	3	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:179611497T>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Silent_p.P5210P|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_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)			CACCAGGAACTGGAAGACCTT	0.368																																						ENST00000360870.5																			0				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						c.(15628-15630)ccA>ccG		titin							91	90	90					2																	179611497		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611497T>C	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.10361-4849A>G	2.37:g.179611497T>C						TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	p.P5210P	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15852	-			8729			Ig-like 32.		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	ENST00000591111.1	37	c.15630A>G																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	85	0	0	0	0.010818	0	33	85					C	179611497	T	C	179611497	1	2	334	0	1	0	0	0	0	0	0	0	16732	1567	55	3		3	TTN	2	179611497	Intron	SNP	T	TCGA-HW-7486-01A-11D-2024-08	134375362	179611497	63587876	4	32741											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	51	0	0	0	0.006214	0	10	51					T	209113112	C	T	209113112	3	4	334	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08	29501615	209113112	34086261	5	32742											
XRCC5	7520	broad.mit.edu	37	chr2	216983868	216983868	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatagcttgaagaaatgTgacatctccctgcaattctt	6	9	3	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:216983868T>C	ENST00000392133.3	+	7	932	c.471T>C	c.(469-471)tgT>tgC	p.C157C	XRCC5_ENST00000392132.2_Silent_p.C157C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	157	Leucine-zipper.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|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)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAAGAAATGTGACATCTCCC	0.368								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(469-471)tgT>tgC	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							73	74	73					2																	216983868		2203	4300	6503	SO:0001819	synonymous_variant	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216983868T>C	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.471T>C	2.37:g.216983868T>C						XRCC5_ENST00000392132.2_Silent_p.C157C	p.C157C			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	7	932	+		Renal(323;0.0328)	157			Leucine-zipper.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	ENST00000392133.3	37	c.471T>C	CCDS2402.1																																																																																				0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		3	31	0	0	0	0.004672	0	3	31					C	216983868	T	C	216983868	2	2	334	1	0	0	0	0	0	0	0	1	17453	1702	59	3		3	XRCC5	2	216983868	Silent	SNP	T	TCGA-HW-7486-01A-11D-2024-08	7870756	216983868	26215505	6	32743											
GSK3B	2932	broad.mit.edu	37	chr3	119720905	119720905	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttaccttaaatctcttGtcctgcaatactttcttgat	3	10	2	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:119720905G>A	ENST00000264235.8	-	2	1252	c.270C>T	c.(268-270)gaC>gaT	p.D90D	GSK3B_ENST00000316626.5_Silent_p.D90D	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TAAATCTCTTGTCCTGCAATA	0.338																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(268-270)gaC>gaT		glycogen synthase kinase 3 beta	Lithium(DB01356)						156	147	150					3																	119720905		2203	4300	6503	SO:0001819	synonymous_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119720905G>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.270C>T	3.37:g.119720905G>A						GSK3B_ENST00000316626.5_Silent_p.D90D	p.D90D	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	2	1252	-			90			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Silent	SNP	ENST00000264235.8	37	c.270C>T	CCDS54628.1																																																																																				0.338	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			20	90	0	0	0	0.008871	0	20	90					A	119720905	G	A	119720905	2	1	334	1	0	0	0	0	0	0	0	1	6824	1368	48	2		2	GSK3B	3	119720905	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08		119720905	78301525	7	32744											
CASR	846	broad.mit.edu	37	chr3	122003579	122003579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaagacccattcccacaGcccgagaggcagaagcagca	11	14	0	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:122003579G>A	ENST00000490131.1	+	7	3150	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q	CASR_ENST00000498619.1_Silent_p.Q936Q|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.Q926Q	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	926				Q -> R (in Ref. 2; AAA86503). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATTCCCACAGCCCGAGAGGC	0.647																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2806-2808)caG>caA		calcium-sensing receptor	Cinacalcet(DB01012)						42	44	43					3																	122003579		2202	4300	6502	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003579G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2778G>A	3.37:g.122003579G>A						CASR_ENST00000490131.1_Silent_p.Q926Q|CASR_ENST00000296154.5_Silent_p.Q926Q	p.Q936Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3246	+			926					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2808G>A	CCDS3010.1																																																																																				0.647	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		8	37	0	0	0	0.00308	0	8	37					A	122003579	G	A	122003579	2	1	334	1	0	0	0	0	0	0	0	1	2682	962	34	2		2	CASR	3	122003579	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08	2282674	122003579	76018851	8	32745											
LRRC33	375387	broad.mit.edu	37	chr3	196386962	196386962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacggaggacatggcaGccctcatgctccagaacctc	10	16	1	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:196386962G>A	ENST00000328557.4	+	3	651	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	150					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGACATGGCAGCCCTCATGCT	0.662																																						ENST00000328557.4																			0											c.(448-450)Gcc>Acc		negative regulator of reactive oxygen species							30	31	31					3																	196386962		2203	4300	6503	SO:0001583	missense	375387							g.chr3:196386962G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.448G>A	3.37:g.196386962G>A	ENSP00000328625:p.Ala150Thr						p.A150T	NM_198565.1	NP_940967.1					3	651	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.448G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610585	0.66558	.	.	ENSG00000174004	ENST00000328557	T	0.00966	5.49	6.17	6.17	0.99709	.	0.170430	0.51477	D	0.000083	T	0.03651	0.0104	L	0.57536	1.79	0.46654	D	0.999146	D	0.61080	0.989	P	0.60012	0.867	T	0.47086	-0.9144	10	0.56958	D	0.05	.	14.6252	0.68616	0.0:0.0:0.7594:0.2406	.	150	Q86YC3	LRC33_HUMAN	T	150	ENSP00000328625:A150T	ENSP00000328625:A150T	A	+	1	0	LRRC33	197871359	0.765000	0.28485	0.988000	0.46212	0.986000	0.74619	2.407000	0.44565	2.941000	0.99782	0.655000	0.94253	GCC		0.662	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		7	18	0	0	0	0.004482	0	7	18					A	196386962	G	A	196386962	3	1	334	1	0	0	0	0	1	0	0	0	8988	971	34	2	454	2	LRRC33	3	196386962	Missense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08	74383383	196386962	1635468	9	32746											
TLR1	7096	broad.mit.edu	37	chr4	38799739	38799739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggatttgtttgaagtttCgccagaatacttaggaagta	10	4	0	2	rs146940675		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:38799739C>T	ENST00000502213.2	-	3	943	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000308979.2_Silent_p.A238A			Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(712-714)gcG>gcA		toll-like receptor 1		C		1,4405	2.1+/-5.4	0,1,2202	59	65	63		714	0.9	0	4	dbSNP_134	63	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TLR1	NM_003263.3		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		238/787	38799739	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799739C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.714G>A	4.37:g.38799739C>T						TLR1_ENST00000502213.2_Silent_p.A238A	p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	987	-			238					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.714G>A	CCDS33973.1																																																																																				0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			4	47	0	0	0	0.009096	0	4	47					T	38799739	C	T	38799739	2	4	334	1	0	0	0	0	0	0	0	1	15946	871	31	1		1	TLR1	4	38799739	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08		38799739	152354537	10	32747											
RASA1	5921	broad.mit.edu	37	chr5	86675592	86675592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatgaagatgtgaacaCtaatttaacacacctattga	5	6	0	4	rs184201084	byFrequency	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:86675592C>A	ENST00000274376.6	+	19	3092	c.2528C>A	c.(2527-2529)aCt>aAt	p.T843N	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.T676N|RASA1_ENST00000456692.2_Missense_Mutation_p.T666N|RASA1_ENST00000506290.1_Missense_Mutation_p.T677N	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	843	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)		GATGTGAACACTAATTTAACA	0.313													C|||	12	0.00239617	0.0	0.0	5008	,	,		17533	0.0119		0.0	False		,,,				2504	0.0					ENST00000456692.2																			0				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						c.(1996-1998)aCt>aAt		RAS p21 protein activator (GTPase activating protein) 1		C	ASN/THR,ASN/THR	2,4404	4.2+/-10.8	0,2,2201	87	88	88		2528,1997	5	1	5		88	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	RASA1	NM_002890.2,NM_022650.2	65,65	0,3,6496	AA,AC,CC		0.0116,0.0454,0.0231	benign,benign	843/1048,666/871	86675592	3,12995	2203	4296	6499	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86675592C>A		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.2528C>A	5.37:g.86675592C>A	ENSP00000274376:p.Thr843Asn					RASA1_ENST00000506290.1_Missense_Mutation_p.T677N|RASA1_ENST00000512763.1_Missense_Mutation_p.T676N|RASA1_ENST00000274376.6_Missense_Mutation_p.T843N	p.T666N	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	19	2112	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	843			C2.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.1997C>A	CCDS34200.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	13.69	2.313606	0.40996	4.54E-4	1.16E-4	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.98	4.98	0.66077	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.236909	0.44483	D	0.000444	T	0.14399	0.0348	L	0.34521	1.04	0.40362	D	0.979253	B;B;B;B;B	0.10296	0.0;0.0;0.001;0.001;0.003	B;B;B;B;B	0.12837	0.002;0.002;0.003;0.001;0.008	T	0.02983	-1.1086	10	0.41790	T	0.15	.	18.6267	0.91342	0.0:1.0:0.0:0.0	.	677;676;677;666;843	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	N	843;666;676;677	ENSP00000274376:T843N;ENSP00000411221:T666N;ENSP00000422008:T676N;ENSP00000420905:T677N	ENSP00000274376:T843N	T	+	2	0	RASA1	86711348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.578000	0.67450	2.470000	0.83445	0.655000	0.94253	ACT		0.313	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		4	64	1	0	0.00024832	0.009096	0.000264875	4	64					A	86675592	C	A	86675592	3	1	334	1	0	0	0	0	1	0	0	0	13060	565	20	4	2614	4	RASA1	5	86675592	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		86675592	94239668	11	32748											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869610	140869610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcctcaatgccactgAtccagacgagggcaccaacg	10	16	1	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:140869610A>G	ENST00000252087.1	+	1	803	c.803A>G	c.(802-804)gAt>gGt	p.D268G	PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCACTGATCCAGACGAG	0.527																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(802-804)gAt>gGt									172	170	170					5																	140869610		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869610A>G	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.803A>G	5.37:g.140869610A>G	ENSP00000252087:p.Asp268Gly					PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron	p.D268G	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	803	+			268			Cadherin 3.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.803A>G	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.260201	0.39995	.	.	ENSG00000240764	ENST00000252087	T	0.74737	-0.87	6.08	6.08	0.98989	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000016	D	0.92437	0.7599	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95442	0.8526	10	0.87932	D	0	.	16.3164	0.82930	1.0:0.0:0.0:0.0	.	268;268	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	G	268	ENSP00000252087:D268G	ENSP00000252087:D268G	D	+	2	0	PCDHGC5	140849794	1.000000	0.71417	0.999000	0.59377	0.021000	0.10359	9.295000	0.96095	2.330000	0.79161	0.533000	0.62120	GAT		0.527	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		41	108	0	0	0	0.00874	0	41	108					G	140869610	A	G	140869610	3	3	334	1	0	0	0	0	1	0	0	0	11571	333	12	3	805	3	PCDHGC5	5	140869610	Missense_Mutation	SNP	A	TCGA-HW-7486-01A-11D-2024-08	54194018	140869610	40045650	12	32749											
COL21A1	81578	broad.mit.edu	37	chr6	56044619	56044619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctatcttagtcagaaatcGtgaggacttggcaaaaaggt	11	6	2	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:56044619G>A	ENST00000244728.5	-	3	794	c.397C>T	c.(397-399)Cga>Tga	p.R133*	COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R133*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R133*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	133	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)			GTCAGAAATCGTGAGGACTTG	0.448																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(397-399)Cga>Tga		collagen, type XXI, alpha 1							95	90	92					6																	56044619		1989	4167	6156	SO:0001587	stop_gained	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044619G>A	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.397C>T	6.37:g.56044619G>A	ENSP00000244728:p.Arg133*					COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R133*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R133*	p.R133*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	794	-	Lung NSC(77;0.0483)		133			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Nonsense_Mutation	SNP	ENST00000244728.5	37	c.397C>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683153	0.68157	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	.	.	.	4.75	-2.22	0.06952	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8745	0.86048	0.0:0.0:0.2697:0.7303	.	.	.	.	X	133	.	ENSP00000244728:R133X	R	-	1	2	COL21A1	56152578	0.997000	0.39634	0.920000	0.36463	0.995000	0.86356	0.811000	0.27198	-0.145000	0.11294	0.650000	0.86243	CGA		0.448	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			8	26	0	0	0	0.00308	0	8	26					A	56044619	G	A	56044619	4	1	334	1	0	0	0	0	0	1	0	0	3680	1153	40	1	2588	1	COL21A1	6	56044619	Nonsense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		56044619	115070448	13	32750											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239871	135239871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcagcaggattcatcCttaatgtctgttatcaccgt	8	10	4	0			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:135239871C>T	ENST00000265605.2	-	7	1214	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ALDH8A1_ENST00000367847.2_Silent_p.K332K|ALDH8A1_ENST00000367845.2_Silent_p.K328K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	382					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCATCCTTAATGTCTG	0.498																																						ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(1144-1146)aaG>aaA		aldehyde dehydrogenase 8 family, member A1							138	119	125					6																	135239871		2203	4300	6503	SO:0001819	synonymous_variant	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135239871C>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1146G>A	6.37:g.135239871C>T						ALDH8A1_ENST00000367845.2_Silent_p.K328K|ALDH8A1_ENST00000367847.2_Silent_p.K332K	p.K382K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	7	1214	-	Colorectal(23;0.221)		382					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Silent	SNP	ENST00000265605.2	37	c.1146G>A	CCDS5171.1																																																																																				0.498	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			24	84	0	0	0	0.003954	0	24	84					T	135239871	C	T	135239871	2	4	334	1	0	0	0	0	0	0	0	1	505	680	24	2		2	ALDH8A1	6	135239871	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08	79195252	135239871	35875196	14	32751											
TMEM85	51234	broad.mit.edu	37	chr15	34517776	34517776	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtggccagggagactcgctCtacccagtcggttacttgga	13	11	1	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr15:34517776C>G	ENST00000267750.4	+	2	242	c.126C>G	c.(124-126)ctC>ctG	p.L42L	EMC4_ENST00000559421.1_Silent_p.L42L|EMC4_ENST00000249209.4_Silent_p.L42L|EMC4_ENST00000559078.1_Silent_p.L42L|EMC4_ENST00000557879.1_Silent_p.L42L	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	42					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GAGACTCGCTCTACCCAGTCG	0.512																																						ENST00000267750.4																			0											c.(124-126)ctC>ctG		ER membrane protein complex subunit 4							175	167	170					15																	34517776		2201	4298	6499	SO:0001819	synonymous_variant	51234							g.chr15:34517776C>G	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"transmembrane protein 85"	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.126C>G	15.37:g.34517776C>G						EMC4_ENST00000557879.1_Silent_p.L42L|EMC4_ENST00000559078.1_Silent_p.L42L|EMC4_ENST00000249209.4_Silent_p.L42L|EMC4_ENST00000559421.1_Silent_p.L42L	p.L42L	NM_016454.2	NP_057538.1					2	242	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Silent	SNP	ENST00000267750.4	37	c.126C>G	CCDS10035.1																																																																																				0.512	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		49	85	0	0	0	0.01441	0	49	85					G	34517776	C	G	34517776	2	3	334	1	0	0	0	0	0	0	0	1	16204	900	32	4		4	TMEM85	15	34517776	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08		34517776	68013616	15	32752											
ENOSF1	55556	broad.mit.edu	37	chr18	706562	706562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacgacataggcagccgagTagtcagggtccgtgtgctgc	15	10	1	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr18:706562T>C	ENST00000251101.7	-	2	189	c.101A>G	c.(100-102)tAc>tGc	p.Y34C	ENOSF1_ENST00000383578.3_5'UTR|ENOSF1_ENST00000539164.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Y34C|RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Y55C	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	34					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCAGCCGAGTAGTCAGGGTC	0.498																																						ENST00000251101.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(100-102)tAc>tGc		enolase superfamily member 1							116	97	103					18																	706562		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:706562T>C	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.101A>G	18.37:g.706562T>C	ENSP00000251101:p.Tyr34Cys					ENOSF1_ENST00000539164.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000383578.3_5'UTR|RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Y55C|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Y34C	p.Y34C	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN			2	189	-			34					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.101A>G	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761170	0.31137	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.45276	0.9;0.9;0.9	5.56	4.41	0.53225	.	0.059363	0.64402	N	0.000001	T	0.69486	0.3116	M	0.92923	3.36	0.40679	D	0.982288	D;D;D	0.89917	1.0;0.994;0.999	D;D;D	0.77557	0.99;0.963;0.987	T	0.75465	-0.3308	10	0.87932	D	0	.	10.2033	0.43099	0.0:0.079:0.0:0.921	.	55;79;34	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	C	34;55;34	ENSP00000251101:Y34C;ENSP00000345974:Y55C;ENSP00000446321:Y34C	ENSP00000251101:Y34C	Y	-	2	0	ENOSF1	696562	1.000000	0.71417	0.995000	0.50966	0.491000	0.33493	4.218000	0.58554	0.955000	0.37878	0.459000	0.35465	TAC		0.498	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		8	61	0	0	0	0.004007	0	8	61					C	706562	T	C	706562	3	2	334	1	0	0	0	0	1	0	0	0	5125	1638	57	3	1290	3	ENOSF1	18	706562	Missense_Mutation	SNP	T	TCGA-HW-7486-01A-11D-2024-08		706562	77370686	16	32753											
CDKN2C	1031	broad.mit.edu	37	chr1	51439758	51439758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaacctgcccttgcActtggctgccaaagaaggcc	12	12	0	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	ENST00000262662.1	+	4	2357	c.323A>G	c.(322-324)cAc>cGc	p.H108R	CDKN2C_ENST00000371761.3_Missense_Mutation_p.H108R|CDKN2C_ENST00000396148.1_Missense_Mutation_p.H108R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	108					cell cycle arrest (GO:0007050)|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 phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	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?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(322-324)cAc>cGc		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							72	68	69					1																	51439758		2203	4300	6503	SO:0001583	missense	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439758A>G	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.323A>G	1.37:g.51439758A>G	ENSP00000262662:p.His108Arg					CDKN2C_ENST00000396148.1_Missense_Mutation_p.H108R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.H108R	p.H108R			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2357	+			108					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.323A>G	CCDS555.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508355	0.85282	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.71461	-0.57;-0.57;-0.57	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87489	0.6190	M	0.91872	3.25	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.89987	0.4105	10	0.66056	D	0.02	-7.4847	16.2127	0.82178	1.0:0.0:0.0:0.0	.	108	P42773	CDN2C_HUMAN	R	108	ENSP00000262662:H108R;ENSP00000379452:H108R;ENSP00000360826:H108R	ENSP00000262662:H108R	H	+	2	0	CDKN2C	51212346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.079000	0.89508	2.236000	0.73375	0.533000	0.62120	CAC		0.552	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		9	9	0	0	0	0.307466	0	9	9					G	51439758	A	G	51439758	3	3	335	1	0	0	0	0	1	0	0	0	3165	159	6	3	329	3	CDKN2C	1	51439758	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		51439758	197810863	1	32754											
RAVER2	55225	broad.mit.edu	37	chr1	65268661	65268661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttattttctcaaagccGttcttggaacacctcacagc	5	12	3	0	rs376591892		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	ENST00000294428.3	+	6	1186	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	RAVER2_ENST00000371072.4_Missense_Mutation_p.V370I|RAVER2_ENST00000430964.2_Missense_Mutation_p.V76I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	370						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						tCTCAAAGCCGTTCTTGGAAC	0.299																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1108-1110)Gtt>Att		ribonucleoprotein, PTB-binding 2		G	ILE/VAL	0,3648		0,0,1824	117	106	109		1108	5.7	0.2	1		109	1,8179		0,1,4089	no	missense	RAVER2	NM_018211.3	29	0,1,5913	AA,AG,GG		0.0122,0.0,0.0085	benign	370/679	65268661	1,11827	1824	4090	5914	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65268661G>A	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1108G>A	1.37:g.65268661G>A	ENSP00000294428:p.Val370Ile					RAVER2_ENST00000371072.4_Missense_Mutation_p.V370I|RAVER2_ENST00000430964.2_Missense_Mutation_p.V76I	p.V370I			Q9HCJ3	RAVR2_HUMAN			6	1186	+			370					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1108G>A		.	.	.	.	.	.	.	.	.	.	G	9.339	1.062593	0.19987	0.0	1.22E-4	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.32515	1.45;1.46	5.67	5.67	0.87782	.	0.553031	0.19202	N	0.120169	T	0.21921	0.0528	L	0.50333	1.59	0.21841	N	0.999516	D;D	0.67145	0.993;0.996	B;P	0.47573	0.348;0.55	T	0.15896	-1.0421	10	0.21014	T	0.42	-20.7975	17.5522	0.87879	0.0:0.0:1.0:0.0	.	370;370	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	370;370;76	ENSP00000360112:V370I;ENSP00000294428:V370I	ENSP00000294428:V370I	V	+	1	0	RAVER2	65041249	1.000000	0.71417	0.176000	0.23000	0.001000	0.01503	4.218000	0.58554	2.668000	0.90789	0.643000	0.83706	GTT		0.299	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		3	38	0	0	0	0.115264	0	3	38					A	65268661	G	A	65268661	3	1	335	1	0	0	0	0	1	0	0	0	13095	1145	40	1	1130	1	RAVER2	1	65268661	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	13828903	65268661	183981960	2	32755											
FUBP1	8880	broad.mit.edu	37	chr1	78426058	78426059	+	Frame_Shift_Ins	INS	-	-	T													ggcctggtggtccaggattaINStaaggtgcagggttgtatgg							TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	ENST00000370768.2	-	15	1547_1548	c.1466_1467insA	c.(1465-1467)tatfs	p.Y489fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.Y489fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.Y510fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	489	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCAGGATTATAAGGTGCAGG	0.545			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1465-1467)taafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78426058_78426059insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1467dupA	1.37:g.78426059_78426059dupT	ENSP00000359804:p.Tyr489fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.*489fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.*510fs	p.*489fs			Q96AE4	FUBP1_HUMAN			15	1553_1554	-			489			Pro-rich.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.1466_1467insA	CCDS683.1																																																																																				0.545	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		13	6						13	6	---	---	---	---	T	78426059	-	T	78426058	7	5	335	1	0	1	1	0	0	0	0	0	6092	456	16	0	491	0	FUBP1	1	78426058	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08	13157397	78426058	170824563	3	32756											
TTN	7273	broad.mit.edu	37	chr2	179433152	179433152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatactttcagcactgaCgtcatcaaatttaacaggtc	6	9	3	1	rs570615498		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	ENST00000591111.1	-	276	73008	c.72784G>A	c.(72784-72786)Gtc>Atc	p.V24262I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17030I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25903I|TTN_ENST00000342992.6_Missense_Mutation_p.V23335I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16963I|TTN_ENST00000460472.2_Missense_Mutation_p.V16838I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24262	Fibronectin type-III 76. {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)			TCAGCACTGACGTCATCAAAT	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23157	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(77707-77709)Gtc>Atc		titin							120	105	110					2																	179433152		1877	4117	5994	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433152C>T	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.72784G>A	2.37:g.179433152C>T	ENSP00000465570:p.Val24262Ile					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16963I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23335I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16838I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24262I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17030I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.V25903I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77931	-			24262			Fibronectin type-III 88.		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	ENST00000591111.1	37	c.77707G>A		.	.	.	.	.	.	.	.	.	.	C	9.165	1.019580	0.19355	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.03	4.23	0.50019	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44953	0.1318	L	0.42008	1.315	0.27457	N	0.953272	B;B;B;B	0.13594	0.002;0.002;0.008;0.002	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.43310	-0.9399	9	0.87932	D	0	.	9.6238	0.39739	0.0:0.6816:0.0:0.3184	.	16838;16963;17030;24262	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23335;16838;17030;16963;16836	ENSP00000343764:V23335I;ENSP00000434586:V16838I;ENSP00000340554:V17030I;ENSP00000352154:V16963I	ENSP00000340554:V17030I	V	-	1	0	TTN	179141398	0.765000	0.28485	0.999000	0.59377	0.966000	0.64601	0.637000	0.24659	0.860000	0.35481	-0.137000	0.14449	GTC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	40	0	0	0	0.27861	0	8	40					T	179433152	C	T	179433152	3	4	335	1	0	0	0	0	1	0	0	0	16732	536	19	1	30420	1	TTN	2	179433152	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		179433152	63766221	4	32757											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	63	0	0	0	0.592651	0	19	63					T	209113112	C	T	209113112	3	4	335	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	29679960	209113112	34086261	5	32758											
ITPR1	3708	broad.mit.edu	37	chr3	4725122	4725122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggcggcagaacctttctcCgtgtcctgctccacttgacg	10	15	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	ENST00000443694.2	+	24	3169	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	ITPR1_ENST00000456211.2_Missense_Mutation_p.R1048C|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1063C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1072C|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1057C|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1063C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1072					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)	AACCTTTCTCCGTGTCCTGCT	0.582																																						ENST00000354582.6																			0				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						c.(3214-3216)Cgt>Tgt		inositol 1,4,5-trisphosphate receptor, type 1							156	150	152					3																	4725122		2014	4179	6193	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725122C>T	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.3169C>T	3.37:g.4725122C>T	ENSP00000401671:p.Arg1057Cys					ITPR1_ENST00000357086.4_Missense_Mutation_p.R1063C|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1048C|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1057C|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1063C|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1057C|ITPR1_ENST00000544951.1_Intron	p.R1072C			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	27	3564	+			1072					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3214C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303309	0.40795	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92911	-3.13;-3.12;-3.08;-3.08;-3.1;-3.13	4.74	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96298	0.9219	10	0.66056	D	0.02	.	13.2905	0.60269	0.3773:0.6227:0.0:0.0	.	1072;1063	Q14643;G5E9P1	ITPR1_HUMAN;.	C	1072;1057;1072;1063;1063;1048;1057	ENSP00000306253:R1057C;ENSP00000346595:R1072C;ENSP00000405934:R1063C;ENSP00000349597:R1063C;ENSP00000397885:R1048C;ENSP00000401671:R1057C	ENSP00000306253:R1057C	R	+	1	0	ITPR1	4700122	0.188000	0.23250	0.971000	0.41717	0.283000	0.27025	0.795000	0.26972	1.146000	0.42352	0.655000	0.94253	CGT		0.582	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		63	129	0	0	0	0.870114	0	63	129					T	4725122	C	T	4725122	3	4	335	1	0	0	0	0	1	0	0	0	7920	652	23	1	3312	1	ITPR1	3	4725122	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		4725122	193297308	6	32759											
MYLK	4638	broad.mit.edu	37	chr3	123419711	123419711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcagcacccctcgcacGtcctcgccgtcttcctcctc	5	22	3	0	rs372924929		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	ENST00000475616.1	-	15	2603	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYLK_ENST00000360772.3_Silent_p.D868D|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.D868D|MYLK_ENST00000346322.5_Silent_p.D799D|MYLK_ENST00000359169.1_Silent_p.D868D			Q15746	MYLK_HUMAN	myosin light chain kinase	868	5 X 28 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)		CCCCTCGCACGTCCTCGCCGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		13829	0.001		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				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						c.(2602-2604)gaC>gaT		myosin light chain kinase		G	,,,	1,4405	2.1+/-5.4	0,1,2202	66	69	68		2604,2397,2604,2397	2.8	1	3		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	868/1915,799/1846,868/1864,799/1795	123419711	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419711G>A	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.2604C>T	3.37:g.123419711G>A						MYLK_ENST00000475616.1_Silent_p.D868D|MYLK_ENST00000360304.3_Silent_p.D868D|MYLK_ENST00000359169.1_Silent_p.D868D|MYLK_ENST00000346322.5_Silent_p.D799D	p.D868D			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	2982	-		Lung NSC(201;0.0496)	868			5 X 28 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2604C>T	CCDS46896.1																																																																																				0.652	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		31	74	0	0	0	0.804634	0	31	74					A	123419711	G	A	123419711	2	1	335	1	0	0	0	0	0	0	0	1	10056	1136	40	1		1	MYLK	3	123419711	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	118694589	123419711	74602719	7	32760											
MARCH1	55016	broad.mit.edu	37	chr4	164450155	164450155	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agacctcctgtgaagccaatGgctaccacaaccagttttgt	8	12	0	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	ENST00000503008.1	-	8	1591	c.615C>G	c.(613-615)gcC>gcG	p.A205A	MARCH1_ENST00000514618.1_Silent_p.A461A|RP11-218F10.3_ENST00000609356.1_lincRNA|MARCH1_ENST00000339875.5_Silent_p.A188A|MARCH1_ENST00000274056.7_Silent_p.A205A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	205					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(613-615)gcC>gcG		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							63	61	62					4																	164450155		2202	4300	6502	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164450155G>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26077	protein-coding gene	gene with protein product		613331	"membrane-associated ring finger (C3HC4) 1"			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.615C>G	4.37:g.164450155G>C						MARCH1_ENST00000339875.5_Silent_p.A188A|MARCH1_ENST00000514618.1_Silent_p.A461A|MARCH1_ENST00000274056.7_Silent_p.A205A	p.A205A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			8	1591	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	205					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.615C>G	CCDS54814.1																																																																																				0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		3	45	0	0	0	0.150653	0	3	45					C	164450155	G	C	164450155	2	2	335	1	0	0	0	0	0	0	0	1	9298	1335	47	4		4	MARCH1	4	164450155	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		164450155	26704121	8	32761											
TIFAB	140947	broad.mit.edu	37	chr5	134785348	134785348	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagggggacctgctcCaggtacctcagcgtcagccc	13	15	3	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Silent_p.L94L|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(280-282)ctG>ctA		TRAF-interacting protein with forkhead-associated domain, family member B							99	103	102					5																	134785348		2118	4224	6342	SO:0001631	upstream_gene_variant	497189							g.chr5:134785348C>T																													5.37:g.134785348C>T	Exception_encountered						p.L94L	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	482	-			94						Silent	SNP	ENST00000503143.2	37	c.282G>A	CCDS4186.1																																																																																				0.607	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			49	108	0	0	0	0.870114	0	49	108					T	134785348	C	T	134785348	1	4	335	0	1	0	0	0	0	0	0	0	15892	581	21	2		2	TIFAB	5	134785348	5'Flank	SNP	C	TCGA-HW-7487-01A-11D-2024-08		134785348	46129912	9	32762											
TRPC7	57113	broad.mit.edu	37	chr5	135693009	135693009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaccccggatggcctggcGacggcccttctccctcagcg	14	17	2	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	ENST00000513104.1	-	2	349	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R23C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R23C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	23					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)			ATGGCCTGGCGACGGCCCTTC	0.587																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(67-69)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							44	50	48					5																	135693009		2115	4240	6355	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693009G>A	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.67C>T	5.37:g.135693009G>A	ENSP00000426070:p.Arg23Cys					TRPC7_ENST00000355180.3_Missense_Mutation_p.R23C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R23C	p.R23C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	349	-			23					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.67C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.625400|3.625400	0.66901|0.66901	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.81163|.	-1.24;-1.39;-1.46|.	5.38|5.38	3.45|3.45	0.39498|0.39498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62829|0.62829	0.2460|0.2460	L|L	0.55990|0.55990	1.75|1.75	0.42057|0.42057	D|D	0.991149|0.991149	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.75020|.	0.985;0.969;0.95;0.95|.	T|T	0.62937|0.62937	-0.6748|-0.6748	10|5	0.72032|.	D|.	0.01|.	-12.4279|-12.4279	13.7734|13.7734	0.63039|0.63039	0.0:0.0:0.583:0.417|0.0:0.0:0.583:0.417	.|.	23;23;23;23|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	C|L	23|22	ENSP00000347312:R23C;ENSP00000441628:R23C;ENSP00000426070:R23C|.	ENSP00000265193:R23C|.	R|S	-|-	1|2	0|0	TRPC7|TRPC7	135720908|135720908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.317000|3.317000	0.51968|0.51968	1.486000|1.486000	0.48398|0.48398	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.587	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		37	52	0	0	0	0.779181	0	37	52					A	135693009	G	A	135693009	3	1	335	1	0	0	0	0	1	0	0	0	16581	1058	37	1	2565	1	TRPC7	5	135693009	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	907661	135693009	45222251	10	32763											
SSPO	23145	broad.mit.edu	37	chr7	149486800	149486800	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggagccgatgaggggcCgggacactgccccctacctt	14	13	0	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	ENST00000378016.2	+	0	4574							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)			GATGAGGGGCCGGGACACTGC	0.682																																						ENST00000378016.2																			0													SCO-spondin							27	34	32					7																	149486800		2047	4168	6215			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486800C>T	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.149486800C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4574	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	28	0	0	0	0.457914	0	13	28					T	149486800	C	T	149486800	1	4	335	0	1	0	0	0	0	0	0	0	15188	652	23	1		1	SSPO	7	149486800	RNA	SNP	C	TCGA-HW-7487-01A-11D-2024-08		149486800	9651863	11	32764											
ADCY8	114	broad.mit.edu	37	chr8	131922058	131922058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgcacagcaccgagccGgagtggattccaatcctcat	9	15	1	0	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	ENST00000286355.5	-	6	3628	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_ENST00000377928.3_Silent_p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	512					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)			GCACCGAGCCGGAGTGGATTC	0.473										HNSCC(32;0.087)																												ENST00000286355.5																			0				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						c.(1534-1536)tcC>tcT		adenylate cyclase 8 (brain)		T		0,4406		0,0,2203	231	179	197		1536	-11.9	0	8	dbSNP_134	197	5,8595		0,5,4295	no	coding-synonymous	ADCY8	NM_001115.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		512/1252	131922058	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131922058G>A	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.1536C>T	8.37:g.131922058G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.S512S	p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		6	3628	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		512						Silent	SNP	ENST00000286355.5	37	c.1536C>T	CCDS6363.1																																																																																				0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	113	0	0	0	0.184627	0	5	113					A	131922058	G	A	131922058	2	1	335	1	0	0	0	0	0	0	0	1	300	1103	39	1		1	ADCY8	8	131922058	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		131922058	14441964	12	32765											
IDI1	3422	broad.mit.edu	37	chr10	1089327	1089327	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacactaaaagctcgatgcAataatcctgaaagcaaaaga	7	8	0	3			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	ENST00000381344.3	-	3	486	c.320T>C	c.(319-321)tTg>tCg	p.L107S	IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	50	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(319-321)tTg>tCg		isopentenyl-diphosphate delta isomerase 1							75	77	76					10																	1089327		2203	4300	6503	SO:0001583	missense	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1089327A>G	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.320T>C	10.37:g.1089327A>G	ENSP00000370748:p.Leu107Ser					IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	p.L107S	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	3	486	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	50			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	ENST00000381344.3	37	c.320T>C	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037465	0.75617	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	.	.	.	4.57	4.57	0.56435	.	0.071853	0.53938	D	0.000043	D	0.88392	0.6424	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92573	0.6068	9	0.87932	D	0	-34.8501	13.8741	0.63643	1.0:0.0:0.0:0.0	.	107	Q13907-2	.	S	107;21;50	.	ENSP00000370748:L107S	L	-	2	0	IDI1	1079327	0.962000	0.33011	0.989000	0.46669	0.778000	0.44026	8.009000	0.88606	1.806000	0.52798	0.482000	0.46254	TTG		0.348	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		19	27	0	0	0	0.592651	0	19	27					G	1089327	A	G	1089327	3	3	335	1	0	0	0	0	1	0	0	0	7499	131	5	3	546	3	IDI1	10	1089327	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		1089327	134445420	13	32766											
DAO	1610	broad.mit.edu	37	chr12	109294236	109294236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatccactggggatgtgcCctggaggcagccaagctctt	12	13	1	0	rs200028465		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	ENST00000228476.3	+	11	1173	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DAO_ENST00000551281.1_Silent_p.A257A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	323					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GGGGATGTGCCCTGGAGGCAG	0.572																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(967-969)gcC>gcT		D-amino-acid oxidase							106	91	96					12																	109294236		2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109294236C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.969C>T	12.37:g.109294236C>T						DAO_ENST00000551281.1_Silent_p.A257A	p.A323A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			11	1173	+			323					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.969C>T	CCDS9122.1																																																																																				0.572	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			18	90	0	0	0	0.539581	0	18	90					T	109294236	C	T	109294236	2	4	335	1	0	0	0	0	0	0	0	1	4231	610	22	2		2	DAO	12	109294236	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		109294236	24557659	14	32767											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	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)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				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						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	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.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	143						7	143	---	---	---	---	T	60582734	-	T	60582733	7	5	335	1	0	1	1	0	0	0	0	0	4520	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08		60582733	54587145	15	32768											
OR4K15	81127	broad.mit.edu	37	chr14	20444378	20444378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctttctttctctgagttCctttctcctcttggttgtct	7	11	5	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	ENST00000305051.5	+	1	776	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	234						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(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(700-702)tCc>tTc		olfactory receptor, family 4, subfamily K, member 15							128	125	126					14																	20444378		2203	4300	6503	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444378C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.701C>T	14.37:g.20444378C>T	ENSP00000304077:p.Ser234Phe						p.S234F	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	776	+	all_cancers(95;0.00108)		234					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.701C>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	9.183	1.024000	0.19433	.	.	ENSG00000169488	ENST00000305051	T	0.37584	1.19	4.08	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.139577	0.33346	N	0.005010	T	0.46521	0.1397	M	0.89478	3.035	0.31684	N	0.642767	B	0.17852	0.024	B	0.27262	0.078	T	0.57165	-0.7858	10	0.59425	D	0.04	.	11.307	0.49340	0.0:0.8133:0.1866:0.0	.	234	Q8NH41	OR4KF_HUMAN	F	234	ENSP00000304077:S234F	ENSP00000304077:S234F	S	+	2	0	OR4K15	19514218	0.000000	0.05858	0.900000	0.35374	0.323000	0.28346	-0.712000	0.05013	0.886000	0.36113	0.585000	0.79938	TCC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			42	97	0	0	0	0.834066	0	42	97					T	20444378	C	T	20444378	3	4	335	1	0	0	0	0	1	0	0	0	11070	855	30	2	703	2	OR4K15	14	20444378	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		20444378	86905162	16	32769											
CHD8	57680	broad.mit.edu	37	chr14	21868155	21868155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctggcaatcgcacccCctaacaccttttctgcttgg	6	15	1	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	ENST00000557364.1	-	25	5065	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.G1322E|CHD8_ENST00000399982.2_Missense_Mutation_p.G1601E|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1601					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|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)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4801-4803)gGg>gAg		chromodomain helicase DNA binding protein 8							205	199	201					14																	21868155		1869	4113	5982	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868155C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4802G>A	14.37:g.21868155C>T	ENSP00000451601:p.Gly1601Glu					CHD8_ENST00000557364.1_Missense_Mutation_p.G1601E|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.G1322E	p.G1601E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	24	4866	-	all_cancers(95;0.00121)		1601					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4802G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	0.517	-0.864089	0.02590	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.85556	-2.0;-2.0;-2.0	5.3	5.3	0.74995	.	0.181464	0.49305	D	0.000160	T	0.58337	0.2115	N	0.00661	-1.28	0.33416	D	0.579272	B	0.10296	0.003	B	0.17433	0.018	T	0.60388	-0.7273	10	0.02654	T	1	-19.7937	14.1109	0.65121	0.0:0.8484:0.1516:0.0	.	1322	Q9HCK8-2	.	E	1322;1601;1321;1601	ENSP00000406288:G1322E;ENSP00000382863:G1601E;ENSP00000451601:G1601E	ENSP00000262707:G1321E	G	-	2	0	CHD8	20937995	0.184000	0.23200	1.000000	0.80357	0.998000	0.95712	1.322000	0.33689	2.748000	0.94277	0.655000	0.94253	GGG		0.423	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		71	180	0	0	0	0.870114	0	71	180					T	21868155	C	T	21868155	3	4	335	1	0	0	0	0	1	0	0	0	3331	623	22	2	2999	2	CHD8	14	21868155	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	1423777	21868155	85481385	17	32770											
AHNAK2	113146	broad.mit.edu	37	chr14	105420366	105420366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggtgggccaatctgtgtGcctccttcggttgtgtctct	12	11	3	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	ENST00000333244.5	-	7	1541	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	474						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)		p.G474G(1)		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)			CAATCTGTGTGCCTCCTTCGG	0.522																																						ENST00000333244.5																			1	Substitution - coding silent(1)	p.G474G(1)	lung(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1420-1422)ggC>ggT		AHNAK nucleoprotein 2							53	57	56					14																	105420366		2003	4177	6180	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420366G>A	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.1422C>T	14.37:g.105420366G>A							p.G474G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1541	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	474					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.1422C>T	CCDS45177.1																																																																																				0.522	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	48	0	0	0	0.307466	0	8	48					A	105420366	G	A	105420366	2	1	335	1	0	0	0	0	0	0	0	1	415	1306	46	2		2	AHNAK2	14	105420366	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	83552211	105420366	1929174	18	32771											
SPTBN5	51332	broad.mit.edu	37	chr15	42164528	42164528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaactcctgcagtgcccGcagctgctcccggagcctct	10	19	1	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	ENST00000320955.6	-	27	5364	c.5137C>T	c.(5137-5139)Cgg>Tgg	p.R1713W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1713					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)		TGCAGTGCCCGCAGCTGCTCC	0.637																																						ENST00000320955.6																			0				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						c.(5137-5139)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							33	38	36					15																	42164528		2138	4259	6397	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42164528G>A	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.5137C>T	15.37:g.42164528G>A	ENSP00000317790:p.Arg1713Trp						p.R1713W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	27	5364	-		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)	1713						Missense_Mutation	SNP	ENST00000320955.6	37	c.5137C>T		.	.	.	.	.	.	.	.	.	.	.	15.88	2.962378	0.53400	.	.	ENSG00000137877	ENST00000320955	T	0.51817	0.69	4.55	3.63	0.41609	.	0.600513	0.16058	N	0.231625	T	0.47248	0.1435	L	0.54323	1.7	0.09310	N	1	D	0.54047	0.964	P	0.47075	0.536	T	0.37454	-0.9705	10	0.62326	D	0.03	.	8.7274	0.34478	0.107:0.0:0.893:0.0	.	1713	Q9NRC6	SPTN5_HUMAN	W	1713	ENSP00000317790:R1713W	ENSP00000317790:R1713W	R	-	1	2	SPTBN5	39951820	0.602000	0.26916	0.021000	0.16686	0.018000	0.09664	1.571000	0.36450	0.913000	0.36797	-0.291000	0.09656	CGG		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	16	0	0	0	0.27861	0	8	16					A	42164528	G	A	42164528	3	1	335	1	0	0	0	0	1	0	0	0	15121	1086	38	1	6055	1	SPTBN5	15	42164528	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		42164528	60366864	19	32772											
RNF151	146310	broad.mit.edu	37	chr16	2018730	2018730	+	Frame_Shift_Del	DEL	C	C	-													ccgtcggcccctgctgctgtCcctcctgcggcgtgtgcgct							TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	ENST00000569714.1	+	4	550	c.542delC	c.(541-543)tccfs	p.S181fs	RNF151_ENST00000321392.3_Frame_Shift_Del_p.S180fs|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	181					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CTGCTGCTGTCCCTCCTGCGG	0.687																																						ENST00000569714.1																			0				kidney(1)|lung(1)	2						c.(541-543)tcfs		ring finger protein 151							6	7	6					16																	2018730		2054	4127	6181	SO:0001589	frameshift_variant	146310				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2018730delC	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.542delC	16.37:g.2018730delC	ENSP00000456566:p.Ser181fs					RNF151_ENST00000321392.3_Frame_Shift_Del_p.S180fs|RNF151_ENST00000569210.2_3'UTR	p.S181fs	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN			4	550	+			181					Q8NHS5	Frame_Shift_Del	DEL	ENST00000569714.1	37	c.542delC	CCDS58405.1																																																																																				0.687	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		2	4						2	4	---	---	---	---	-	2018730	C	-	2018730	7	5	335	1	0	1	0	1	0	0	0	0	13452	855	30	0	556	0	RNF151	16	2018730	Frame_Shift_Del	DEL	C	TCGA-HW-7487-01A-11D-2024-08		2018730	88336023	20	32773											
LAMA3	3909	broad.mit.edu	37	chr18	21330907	21330907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttgataaacggtcGtccaggtgcaaaaaatttta	10	7	0	1	rs527373647		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	ENST00000313654.9	+	5	951	c.710G>A	c.(709-711)cGt>cAt	p.R237H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R237H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	237	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)					ATAAACGGTCGTCCAGGTGCA	0.393																																						ENST00000313654.9																			0				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						c.(709-711)cGt>cAt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128	125	126					18																	21330907		1869	4092	5961	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330907G>A	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.710G>A	18.37:g.21330907G>A	ENSP00000324532:p.Arg237His					LAMA3_ENST00000399516.3_Missense_Mutation_p.R237H	p.R237H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			5	951	+	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)		237			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.710G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378691	0.95945	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	D;D	0.81996	-1.56;-1.56	5.64	5.64	0.86602	Laminin, N-terminal (3);	.	.	.	.	D	0.93628	0.7965	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94592	0.7788	9	0.87932	D	0	.	19.7075	0.96079	0.0:0.0:1.0:0.0	.	237;237;237	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	H	237	ENSP00000324532:R237H;ENSP00000382432:R237H	ENSP00000324532:R237H	R	+	2	0	LAMA3	19584905	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.459000	0.97638	2.643000	0.89663	0.655000	0.94253	CGT		0.393	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		51	81	0	0	0	0.870114	0	51	81					A	21330907	G	A	21330907	3	1	335	1	0	0	0	0	1	0	0	0	8607	1145	40	1	728	1	LAMA3	18	21330907	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		21330907	56746341	21	32774											
C19orf21	126353	broad.mit.edu	37	chr19	757295	757295	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cactccgcccagaggacgggGaggacaaggagatgaagacc	15	11	0	4			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:757295G>C	ENST00000215582.6	+	2	452	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	117					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGAGGACGGGGAGGACAAGGA	0.667																																						ENST00000215582.6																			0											c.(349-351)Gag>Cag		mitotic spindle positioning							59	51	53					19																	757295		2203	4300	6503	SO:0001583	missense	126353							g.chr19:757295G>C	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.349G>C	19.37:g.757295G>C	ENSP00000215582:p.Glu117Gln						p.E117Q	NM_173481.2	NP_775752.1					2	452	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.349G>C	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737254	0.49045	.	.	ENSG00000099812	ENST00000215582	T	0.17370	2.28	4.1	0.697	0.18081	.	4.121140	0.01792	U	0.032388	T	0.23611	0.0571	M	0.62723	1.935	0.09310	N	1	B	0.32968	0.392	B	0.36534	0.227	T	0.28839	-1.0031	10	0.56958	D	0.05	-5.3336	6.9269	0.24419	0.2995:0.0:0.7005:0.0	.	117	Q8IVT2	CS021_HUMAN	Q	117	ENSP00000215582:E117Q	ENSP00000215582:E117Q	E	+	1	0	C19orf21	708295	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.258000	0.08733	0.020000	0.15106	0.313000	0.20887	GAG		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		12	21	0	0	0	0.38729	0	12	21					C	757295	G	C	757295	3	2	335	1	0	0	0	0	1	0	0	0	1913	1175	41	4	351	4	C19orf21	19	757295	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		757295	58371688	22	32775											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	12	16	2	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		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)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	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						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66	65	65					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	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.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	15	0	0	0	0.592651	0	21	15					A	42791758	G	A	42791758	3	1	335	1	0	0	0	0	1	0	0	0	3424	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	42034463	42791758	16337225	23	32776											
NLRP9	338321	broad.mit.edu	37	chr19	56249567	56249567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtaatgtttgtccagCagctttgctacatcttcttt	8	10	2	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	ENST00000332836.2	-	1	201	c.174G>T	c.(172-174)ctG>ctT	p.L58L	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	58	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					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)		GTTTGTCCAGCAGCTTTGCTA	0.458																																						ENST00000332836.2																			0				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						c.(172-174)ctG>ctT		NLR family, pyrin domain containing 9							385	382	383					19																	56249567		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56249567C>A	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.174G>T	19.37:g.56249567C>A							p.L58L	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	201	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	58			DAPIN.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.174G>T	CCDS12934.1																																																																																				0.458	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		173	158	1	0	2.1706e-81	0.870114	2.27913e-81	173	158					A	56249567	C	A	56249567	2	1	335	1	0	0	0	0	0	0	0	1	10484	697	25	4		4	NLRP9	19	56249567	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08	13457809	56249567	2879416	24	32777											
UMODL1	89766	broad.mit.edu	37	chr21	43519136	43519136	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaccacactttccatgtCcgggtttaccggggtatgga	11	11	0	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	ENST00000408910.2	+	7	1032	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	UMODL1_ENST00000400424.2_Silent_p.V272V|UMODL1_ENST00000400427.1_Silent_p.V272V|UMODL1_ENST00000408989.2_Silent_p.V344V	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CTTTCCATGTCCGGGTTTACC	0.542																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				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						c.(814-816)gtC>gtT		uromodulin-like 1							98	98	98					21																	43519136		1944	4133	6077	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519136C>T		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.1032C>T	21.37:g.43519136C>T						UMODL1_ENST00000408989.2_Silent_p.V344V|UMODL1_ENST00000400424.1_Silent_p.V272V|UMODL1_ENST00000408910.2_Silent_p.V344V	p.V272V	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			7	1212	+			344			EGF-like 1; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.816C>T	CCDS42936.1																																																																																				0.542	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			32	59	0	0	0	0.750413	0	32	59					T	43519136	C	T	43519136	2	4	335	1	0	0	0	0	0	0	0	1	16977	842	30	2		2	UMODL1	21	43519136	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		43519136	4610759	25	32778											
CR1L	1379	broad.mit.edu	37	chr1	207890949	207890949	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgaccttcaacctcattgggGagagcaccatccgccgcaca	9	15	2	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr1:207890949G>T	ENST00000508064.2	+	11	1615	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	519	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCATTGGGGAGAGCACCAT	0.542																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1555-1557)Gag>Tag		complement component (3b/4b) receptor 1-like							149	146	147					1																	207890949		1957	4134	6091	SO:0001587	stop_gained	1379					cytoplasm|extracellular region|membrane		g.chr1:207890949G>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1555G>T	1.37:g.207890949G>T	ENSP00000421736:p.Glu519*						p.E519*	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			11	1615	+			519			Sushi 8.		Q32MC9|Q8NEU7	Nonsense_Mutation	SNP	ENST00000508064.2	37	c.1555G>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199929	0.94997	.	.	ENSG00000197721	ENST00000508064	.	.	.	3.01	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	6.4089	0.21680	0.1547:0.0:0.8453:0.0	.	.	.	.	X	519	.	ENSP00000421736:E519X	E	+	1	0	CR1L	205957572	0.331000	0.24713	0.243000	0.24186	0.467000	0.32768	0.706000	0.25690	0.558000	0.29135	0.305000	0.20034	GAG		0.542	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		9	165	1	0	1.76689e-08	1	2.06979e-08	9	165					T	207890949	G	T	207890949	4	4	336	1	0	0	0	0	0	1	0	0	3841	1175	41	4	1597	4	CR1L	1	207890949	Nonsense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		207890949	41359672	1	32779											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	52	0	0	0	1	0	17	52					T	209113112	C	T	209113112	3	4	336	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		209113112	34086261	2	32780											
IGSF10	285313	broad.mit.edu	37	chr3	151164878	151164878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatagaagtgattgtgcctgGgttcactcacttctcttaca	8	9	3	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:151164878G>T	ENST00000282466.3	-	4	2890	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		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	964					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)			ATTGTGCCTGGGTTCACTCAC	0.418																																						ENST00000282466.3																			0				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						c.(2890-2892)cCc>cAc		immunoglobulin superfamily, member 10							169	163	165					3																	151164878		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164878G>T	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.2891C>A	3.37:g.151164878G>T	ENSP00000282466:p.Pro964His						p.P964H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2890	-			964					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2891C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652043	0.47362	.	.	ENSG00000152580	ENST00000282466	T	0.69561	-0.41	5.13	4.24	0.50183	.	0.854767	0.09907	N	0.740343	T	0.42966	0.1226	N	0.08118	0	0.09310	N	1	B	0.28760	0.221	B	0.19946	0.027	T	0.23013	-1.0200	10	0.21540	T	0.41	.	8.313	0.32082	0.0802:0.0:0.767:0.1529	.	964	Q6WRI0	IGS10_HUMAN	H	964	ENSP00000282466:P964H	ENSP00000282466:P964H	P	-	2	0	IGSF10	152647568	0.014000	0.17966	0.034000	0.17996	0.018000	0.09664	1.897000	0.39799	1.125000	0.41998	0.591000	0.81541	CCC		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		8	169	1	0	0.000157383	1	0.000169808	8	169					T	151164878	G	T	151164878	3	4	336	1	0	0	0	0	1	0	0	0	7597	1232	43	4	5040	4	IGSF10	3	151164878	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		151164878	46857552	3	32781											
MECOM	2122	broad.mit.edu	37	chr3	168834410	168834410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtttatttaaggaagacGtagtgctgaacatttgtcca	10	5	0	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:168834410G>A	ENST00000464456.1	-	7	1886	c.686C>T	c.(685-687)aCg>aTg	p.T229M	MECOM_ENST00000392736.3_Missense_Mutation_p.T229M|MECOM_ENST00000494292.1_Missense_Mutation_p.T417M|MECOM_ENST00000472280.1_Missense_Mutation_p.T230M|MECOM_ENST00000468789.1_Missense_Mutation_p.T229M|MECOM_ENST00000460814.1_Missense_Mutation_p.T229M|MECOM_ENST00000433243.2_Missense_Mutation_p.T230M|MECOM_ENST00000264674.3_Missense_Mutation_p.T294M	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)	p.T229R(1)		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						TAAGGAAGACGTAGTGCTGAA	0.453																																						ENST00000464456.1																			1	Substitution - Missense(1)	p.T229R(1)	endometrium(1)	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						c.(685-687)aCg>aTg		MDS1 and EVI1 complex locus							484	404	431					3																	168834410		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168834410G>A	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.686C>T	3.37:g.168834410G>A	ENSP00000419770:p.Thr229Met					MECOM_ENST00000264674.3_Missense_Mutation_p.T294M|MECOM_ENST00000472280.1_Missense_Mutation_p.T230M|MECOM_ENST00000468789.1_Missense_Mutation_p.T229M|MECOM_ENST00000494292.1_Missense_Mutation_p.T417M|MECOM_ENST00000460814.1_Missense_Mutation_p.T229M|MECOM_ENST00000433243.2_Missense_Mutation_p.T230M|MECOM_ENST00000392736.3_Missense_Mutation_p.T229M	p.T229M	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	1886	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.686C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626440	0.66901	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000002	T	0.61640	0.2363	L	0.35487	1.065	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	0.91635	0.999;0.999;0.998;0.998;0.999	T	0.59989	-0.7350	10	0.51188	T	0.08	-9.9972	20.2441	0.98394	0.0:0.0:1.0:0.0	.	417;230;417;294;229	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	M	294;229;229;230;417;229;229;230	ENSP00000264674:T294M;ENSP00000376493:T229M;ENSP00000419770:T229M;ENSP00000420048:T230M;ENSP00000417899:T417M;ENSP00000419995:T229M;ENSP00000420466:T229M;ENSP00000394302:T230M	ENSP00000264674:T294M	T	-	2	0	MECOM	170317104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	ACG		0.453	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		16	125	0	0	0	1	0	16	125					A	168834410	G	A	168834410	3	1	336	1	0	0	0	0	1	0	0	0	9422	1145	40	1	2509	1	MECOM	3	168834410	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	17669532	168834410	29188020	4	32782											
FAM193A	8603	broad.mit.edu	37	chr4	2696820	2696820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggagggcaagtactgCgactgctgctactgcgaatt	13	9	0	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr4:2696820C>T	ENST00000324666.5	+	15	2718	c.2367C>T	c.(2365-2367)tgC>tgT	p.C789C	FAM193A_ENST00000382839.3_Silent_p.C789C|FAM193A_ENST00000502458.1_Silent_p.C811C|FAM193A_ENST00000505311.1_Silent_p.C789C|FAM193A_ENST00000545951.1_Silent_p.C789C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	789										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						GCAAGTACTGCGACTGCTGCT	0.582																																						ENST00000324666.5																			0				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						c.(2365-2367)tgC>tgT		family with sequence similarity 193, member A							103	72	83					4																	2696820		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2696820C>T	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.2367C>T	4.37:g.2696820C>T						FAM193A_ENST00000505311.1_Silent_p.C789C|FAM193A_ENST00000382839.3_Silent_p.C789C|FAM193A_ENST00000545951.1_Silent_p.C789C|FAM193A_ENST00000502458.1_Silent_p.C811C	p.C789C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			15	2718	+			789					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.2367C>T	CCDS58875.1																																																																																				0.582	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		5	50	0	0	0	1	0	5	50					T	2696820	C	T	2696820	2	4	336	1	0	0	0	0	0	0	0	1	5524	776	27	1		1	FAM193A	4	2696820	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		2696820	188457456	5	32783											
KDM3B	51780	broad.mit.edu	37	chr5	137708439	137708439	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggaagttatcgtgcTtctgctggaagggtctcttg	14	7	2	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:137708439T>A	ENST00000314358.5	+	2	469	c.269T>A	c.(268-270)cTt>cAt	p.L90H		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	90					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						GTTATCGTGCTTCTGCTGGAA	0.507																																						ENST00000314358.5																			0				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						c.(268-270)cTt>cAt		lysine (K)-specific demethylase 3B							105	99	101					5																	137708439		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137708439T>A	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.269T>A	5.37:g.137708439T>A	ENSP00000326563:p.Leu90His						p.L90H	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			2	469	+			90					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.269T>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389011	0.82902	.	.	ENSG00000120733	ENST00000314358	T	0.65364	-0.15	5.11	5.11	0.69529	.	0.141059	0.49305	D	0.000157	T	0.68412	0.2998	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	P	0.54372	0.75	T	0.72782	-0.4189	10	0.87932	D	0	-1.1488	15.0503	0.71862	0.0:0.0:0.0:1.0	.	90	Q7LBC6	KDM3B_HUMAN	H	90	ENSP00000326563:L90H	ENSP00000326563:L90H	L	+	2	0	KDM3B	137736338	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.630000	0.67805	2.142000	0.66516	0.460000	0.39030	CTT		0.507	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		35	59	0	0	0	1	0	35	59					A	137708439	T	A	137708439	3	1	336	1	0	0	0	0	1	0	0	0	8127	1609	56	5	275	5	KDM3B	5	137708439	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08		137708439	43206821	6	32784											
GRK6	2870	broad.mit.edu	37	chr5	176857877	176857877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctattgctcccacaggtggCggtggaaatcgcaaaggcaa	12	11	0	0	rs373947875		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:176857877C>T	ENST00000355472.5	+	2	225	c.57C>T	c.(55-57)ggC>ggT	p.G19G	GRK6_ENST00000528793.1_Silent_p.G19G|GRK6_ENST00000393576.3_Silent_p.G19G|GRK6_ENST00000355958.5_Silent_p.G19G|GRK6_ENST00000507633.1_Silent_p.G19G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	19	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-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)			CCACAGGTGGCGGTGGAAATC	0.612																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(55-57)ggC>ggT		G protein-coupled receptor kinase 6		C	,,	0,4406		0,0,2203	69	61	63		57,57,57	-0.2	1	5		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GRK6	NM_001004105.2,NM_001004106.2,NM_002082.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	19/561,19/577,19/590	176857877	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176857877C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.57C>T	5.37:g.176857877C>T						GRK6_ENST00000507633.1_Silent_p.G19G|GRK6_ENST00000355958.5_Silent_p.G19G|GRK6_ENST00000528793.1_Silent_p.G19G|GRK6_ENST00000393576.3_Silent_p.G19G	p.G19G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	225	+	all_cancers(89;1.15e-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)	19			N-terminal.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.57C>T	CCDS34303.1																																																																																				0.612	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		9	24	0	0	0	1	0	9	24					T	176857877	C	T	176857877	2	4	336	1	0	0	0	0	0	0	0	1	6793	755	27	1		1	GRK6	5	176857877	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08	39149438	176857877	4057383	7	32785											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18776969	18776969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcacctgggagaaggaCggccagcacctcatcagctc	10	15	4	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr9:18776969C>T	ENST00000380548.4	+	19	3081	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	914	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)		GGGAGAAGGACGGCCAGCACC	0.677																																						ENST00000380548.4																			0				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						c.(2740-2742)gaC>gaT		ADAMTS-like 1							39	48	45					9																	18776969		2094	4220	6314	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18776969C>T	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.2742C>T	9.37:g.18776969C>T							p.D914D	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3081	+			914			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2742C>T	CCDS47954.1																																																																																				0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			17	42	0	0	0	1	0	17	42					T	18776969	C	T	18776969	2	4	336	1	0	0	0	0	0	0	0	1	274	535	19	1		1	ADAMTSL1	9	18776969	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		18776969	122436462	8	32786											
MCM10	55388	broad.mit.edu	37	chr10	13231079	13231079	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgtatgcagcttcaAtgtaagacgttctcgggctt	10	11	2	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:13231079A>G	ENST00000484800.2	+	10	1520	c.1417A>G	c.(1417-1419)Att>Gtt	p.I473V	MCM10_ENST00000378714.3_Splice_Site_p.I472V|MCM10_ENST00000378694.1_Splice_Site_p.I472V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	473					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						TGCAGCTTCAATGTAAGACGT	0.478																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.e9+1		minichromosome maintenance complex component 10							73	74	74					10																	13231079		2203	4300	6503	SO:0001630	splice_region_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13231079A>G	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.1418+1A>G	10.37:g.13231079A>G						MCM10_ENST00000484800.2_Splice_Site_p.I473_splice|MCM10_ENST00000378714.3_Splice_Site_p.I472_splice	p.I472_splice			Q7L590	MCM10_HUMAN			9	1489	+			473					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Splice_Site	SNP	ENST00000484800.2	37	c.1415_splice	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	1.497	-0.553154	0.03996	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.11930	2.73;2.73;2.73	5.62	-4.24	0.03777	.	0.869420	0.10447	N	0.673498	T	0.04272	0.0118	N	0.01874	-0.695	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.46247	-0.9205	10	0.15952	T	0.53	-7.7539	11.242	0.48974	0.1129:0.337:0.5501:0.0	.	472;472;473	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	V	472;473;473;472	ENSP00000367986:I472V;ENSP00000418268:I473V;ENSP00000367966:I472V	ENSP00000354945:I473V	I	+	1	0	MCM10	13271085	0.029000	0.19370	0.003000	0.11579	0.107000	0.19398	0.312000	0.19397	-1.041000	0.03266	-0.316000	0.08728	ATT		0.478	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	Missense_Mutation	11	68	0	0	0	1	0	11	68					G	13231079	A	G	13231079	5	3	336	1	0	0	0	0	0	0	1	0	9385	115	4	3	1451	3	MCM10	10	13231079	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		13231079	122303668	9	32787											
TCF7L2	6934	broad.mit.edu	37	chr10	114912156	114912156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggaaggagcgacagcTtcatatgcaactgtaccccg	12	13	1	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:114912156T>G	ENST00000355995.4	+	11	1733	c.1226T>G	c.(1225-1227)cTt>cGt	p.L409R	TCF7L2_ENST00000352065.5_Missense_Mutation_p.L386R|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L433R|TCF7L2_ENST00000369389.1_Missense_Mutation_p.L120R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.L125R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.L386R|TCF7L2_ENST00000369386.1_Missense_Mutation_p.L52R|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.L409R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	409					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCGACAGCTTCATATGCAA	0.527			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1225-1227)cTt>cGt		transcription factor 7-like 2 (T-cell specific, HMG-box)							158	163	161					10																	114912156		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114912156T>G	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1226T>G	10.37:g.114912156T>G	ENSP00000348274:p.Leu409Arg					TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.L386R|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L433R|TCF7L2_ENST00000369389.1_Missense_Mutation_p.L120R|TCF7L2_ENST00000355995.4_Missense_Mutation_p.L409R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L386R|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000369386.1_Missense_Mutation_p.L52R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.L125R|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L409R	p.L409R			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	11	1733	+		Breast(234;0.058)|Colorectal(252;0.0615)	409					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1226T>G		.	.	.	.	.	.	.	.	.	.	t	27.8	4.865694	0.91511	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	5.66	5.66	0.87406	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.176783	0.50627	D	0.000103	D	0.96965	0.9009	N	0.25890	0.77	0.80722	D	1	P;P;B;B;P;P;D;P;P;B;P;P;P;D;D;P;P;P;D	0.89917	0.868;0.786;0.387;0.115;0.588;0.587;0.998;0.72;0.581;0.41;0.581;0.74;0.873;1.0;0.999;0.88;0.503;0.72;1.0	P;P;P;P;P;P;D;P;P;P;P;P;P;D;D;D;P;P;D	0.91635	0.673;0.833;0.475;0.512;0.74;0.803;0.993;0.622;0.803;0.475;0.803;0.728;0.809;0.999;0.999;0.927;0.479;0.639;0.999	D	0.97734	1.0204	10	0.51188	T	0.08	-10.3736	15.8923	0.79309	0.0:0.0:0.0:1.0	.	266;226;308;409;280;324;382;386;386;352;409;386;386;391;433;386;409;382;386	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	409;409;409;409;433;409;409;386;386;125;120;126;52	ENSP00000348274:L409R;ENSP00000440547:L409R;ENSP00000444972:L409R;ENSP00000446238:L409R;ENSP00000347949:L433R;ENSP00000446172:L409R;ENSP00000443626:L409R;ENSP00000358404:L386R;ENSP00000344823:L386R;ENSP00000443883:L125R;ENSP00000358396:L120R;ENSP00000277945:L126R;ENSP00000358393:L52R	ENSP00000277945:L126R	L	+	2	0	TCF7L2	114902146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	2.157000	0.67596	0.533000	0.62120	CTT		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		21	204	0	0	0	1	0	21	204					G	114912156	T	G	114912156	3	3	336	1	0	0	0	0	1	0	0	0	15695	1609	56	5	1413	5	TCF7L2	10	114912156	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08	101681077	114912156	20622591	10	32788											
FADS2	9415	broad.mit.edu	37	chr11	61630533	61630533	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagccctccttttcctcaaCttcatcaggtgcctgggctt	9	14	3	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:61630533C>G	ENST00000278840.4	+	8	1602	c.972C>G	c.(970-972)aaC>aaG	p.N324K	FADS2_ENST00000257261.6_Missense_Mutation_p.N302K|FADS2_ENST00000521849.1_Missense_Mutation_p.N324K|FADS2_ENST00000522056.1_Missense_Mutation_p.N293K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	324					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TTTTCCTCAACTTCATCAGGT	0.577																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(970-972)aaC>aaG		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						169	143	152					11																	61630533		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61630533C>G	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.972C>G	11.37:g.61630533C>G	ENSP00000278840:p.Asn324Lys					FADS2_ENST00000522056.1_Missense_Mutation_p.N293K|FADS2_ENST00000257261.6_Missense_Mutation_p.N302K|FADS2_ENST00000521849.1_Missense_Mutation_p.N324K	p.N324K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			8	1602	+			324					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.972C>G	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067001	0.36470	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000521571;ENST00000355484	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.98;0.63	4.84	3.93	0.45458	Fatty acid desaturase, type 1 (1);	0.000000	0.64402	D	0.000005	T	0.34135	0.0887	N	0.19112	0.55	0.46167	D	0.998903	B;B;B;B	0.26400	0.148;0.089;0.036;0.11	B;B;B;B	0.35770	0.21;0.102;0.062;0.185	T	0.11842	-1.0571	10	0.29301	T	0.29	-15.3564	8.8288	0.35072	0.0:0.8248:0.0:0.1752	.	293;324;324;302	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	K	302;293;324;324;90;90	ENSP00000257261:N302K;ENSP00000429500:N293K;ENSP00000278840:N324K;ENSP00000431091:N324K;ENSP00000443867:N90K;ENSP00000437965:N90K	ENSP00000257261:N302K	N	+	3	2	FADS2	61387109	0.066000	0.20996	1.000000	0.80357	0.970000	0.65996	0.272000	0.18644	1.182000	0.42928	0.561000	0.74099	AAC		0.577	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		4	79	0	0	0	1	0	4	79					G	61630533	C	G	61630533	3	3	336	1	0	0	0	0	1	0	0	0	5366	564	20	4	1002	4	FADS2	11	61630533	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		61630533	73375983	11	32789											
FAT3	120114	broad.mit.edu	37	chr11	92600243	92600243	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataacaatgagctgccgctgCagaacaagcgcagcagcttc	10	12	0	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:92600243C>T	ENST00000298047.6	+	21	12012	c.11995C>T	c.(11995-11997)Cag>Tag	p.Q3999*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q3999*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q334*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q3849*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3999	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				GCTGCCGCTGCAGAACAAGCG	0.637										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(11995-11997)Cag>Tag		FAT atypical cadherin 3							10	13	12					11																	92600243		2014	4169	6183	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600243C>T	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.11995C>T	11.37:g.92600243C>T	ENSP00000298047:p.Gln3999*	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q3999*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q3849*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q334*	p.Q3999*			Q8TDW7	FAT3_HUMAN			21	12012	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3999			Laminin G-like.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.11995C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.591952	0.97688	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	.	.	.	X	3999;3999;3849;334	.	ENSP00000298047:Q3999X	Q	+	1	0	FAT3	92239891	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.362000	0.79507	2.826000	0.97356	0.561000	0.74099	CAG		0.637	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	5	0	0	0	1	0	6	5					T	92600243	C	T	92600243	4	4	336	1	0	0	0	0	0	1	0	0	5691	711	25	2	12077	2	FAT3	11	92600243	Nonsense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08	30969710	92600243	42406273	12	32790											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392093	21392093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaacattttgtcccttcTgctggggcagatagtgaaac	9	8	1	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:21392093T>C	ENST00000256958.2	+	15	2142	c.2046T>C	c.(2044-2046)tcT>tcC	p.S682S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	682					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|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)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTGTCCCTTCTGCTGGGGCAG	0.343																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2044-2046)tcT>tcC		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						70	78	75					12																	21392093		2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392093T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.2046T>C	12.37:g.21392093T>C							p.S682S	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			15	2142	+			682					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.2046T>C	CCDS8685.1																																																																																				0.343	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		22	96	0	0	0	1	0	22	96					C	21392093	T	C	21392093	2	2	336	1	0	0	0	0	0	0	0	1	14723	1567	55	3		3	SLCO1B1	12	21392093	Silent	SNP	T	TCGA-HW-7489-01A-11D-2024-08		21392093	112459802	13	32791											
ANO6	196527	broad.mit.edu	37	chr12	45797221	45797221	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttctttttaaccttctaGtgtgacccaggtggctgtct	8	9	3	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:45797221G>T	ENST00000320560.8	+	15	1984		c.e15-1		ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000426898.2_Splice_Site|ANO6_ENST00000423947.3_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAACCTTCTAGTGTGACCCAG	0.338																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e15-1		anoctamin 6							90	92	91					12																	45797221		2203	4300	6503	SO:0001630	splice_region_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45797221G>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1783-1G>T	12.37:g.45797221G>T						ANO6_ENST00000426898.2_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000423947.3_Splice_Site		NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			15	1984	+								A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Splice_Site	SNP	ENST00000320560.8	37		CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.632009	0.67015	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9159	0.97061	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO6	44083488	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.799000	0.99117	2.882000	0.98803	0.655000	0.94253	.		0.338	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	Intron	8	93	1	0	0.0381472	1	0.0401035	8	93					T	45797221	G	T	45797221	5	4	336	1	0	0	0	0	0	0	1	0	701	1043	36	4	1860	4	ANO6	12	45797221	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08	24405128	45797221	88054674	14	32792											
TRIM13	10206	broad.mit.edu	37	chr13	50586070	50586070	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattttttttttttctggtaGgatgtgatggagctgcttga	11	3	1	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr13:50586070G>A	ENST00000378182.3	+	2	732		c.e2-1		TRIM13_ENST00000356017.4_Splice_Site|TRIM13_ENST00000457662.2_Splice_Site|TRIM13_ENST00000298772.5_Splice_Site|TRIM13_ENST00000420995.2_Splice_Site|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTTCTGGTAGGATGTGATGG	0.373																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.e2-1		tripartite motif containing 13							102	95	98					13																	50586070		2203	4300	6503	SO:0001630	splice_region_variant	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586070G>A	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.-6-1G>A	13.37:g.50586070G>A						TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Splice_Site|TRIM13_ENST00000420995.2_Splice_Site|TRIM13_ENST00000298772.5_Splice_Site|TRIM13_ENST00000457662.2_Splice_Site		NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	732	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)						B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Splice_Site	SNP	ENST00000378182.3	37		CCDS9423.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947730	0.53186	.	.	ENSG00000204977	ENST00000356017;ENST00000298772	.	.	.	5.92	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8435	0.63453	0.0749:0.0:0.9251:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM13	49484071	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.043000	0.93799	1.460000	0.47911	0.655000	0.94253	.		0.373	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	Intron	26	65	0	0	0	1	0	26	65					A	50586070	G	A	50586070	5	1	336	1	0	0	0	0	0	0	1	0	16485	1014	35	2	9	2	TRIM13	13	50586070	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		50586070	64583808	15	32793											
CD276	80381	broad.mit.edu	37	chr15	73992059	73992059	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtggttctgcctcacaGgtgagggtagcagcatgggg	16	9	2	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr15:73992059G>A	ENST00000318443.5	+	2	381	c.79G>A	c.(79-81)Gga>Aga	p.G27R	CD276_ENST00000561213.1_Splice_Site_p.G27R|CD276_ENST00000564751.1_Splice_Site_p.G27R|CD276_ENST00000537340.2_Intron|CD276_ENST00000318424.5_Splice_Site_p.G27R	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	27					cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTGCCTCACAGGTGAGGGTAG	0.662																																						ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.e2+1		CD276 molecule							56	45	49					15																	73992059		2198	4297	6495	SO:0001630	splice_region_variant	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73992059G>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19137	protein-coding gene	gene with protein product		605715	"CD276 antigen"			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.79+1G>A	15.37:g.73992059G>A						CD276_ENST00000561213.1_Splice_Site_p.G27_splice|CD276_ENST00000537340.2_Intron|CD276_ENST00000564751.1_Splice_Site_p.G27_splice|CD276_ENST00000318424.5_Splice_Site_p.G27_splice	p.G27_splice	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			2	381	+			27					Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Splice_Site	SNP	ENST00000318443.5	37	c.79_splice	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328897	0.60743	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	T;T	0.22336	1.96;2.11	3.22	3.22	0.36961	.	0.293301	0.26439	N	0.024371	T	0.29850	0.0746	L	0.29908	0.895	0.80722	D	1	B;D;D	0.89917	0.441;1.0;1.0	B;D;D	0.91635	0.421;0.998;0.999	T	0.01869	-1.1257	10	0.22706	T	0.39	.	12.2149	0.54400	0.0:0.0:1.0:0.0	.	27;27;27	Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;CD276_HUMAN;.	R	27	ENSP00000320058:G27R;ENSP00000320084:G27R	ENSP00000320058:G27R	G	+	1	0	CD276	71779112	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	4.249000	0.58766	2.084000	0.62774	0.561000	0.74099	GGA		0.662	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	Missense_Mutation	5	35	0	0	0	1	0	5	35					A	73992059	G	A	73992059	5	1	336	1	0	0	0	0	0	0	1	0	2992	1014	35	2	81	2	CD276	15	73992059	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		73992059	28539333	16	32794											
TELO2	9894	broad.mit.edu	37	chr16	1552970	1552970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacagttctatgccctcaaCtacagcctccggcagcgcat	7	16	3	0	rs578061612		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:1552970C>A	ENST00000262319.6	+	15	2088	c.1809C>A	c.(1807-1809)aaC>aaA	p.N603K	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	603					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATGCCCTCAACTACAGCCTCC	0.642																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1807-1809)aaC>aaA		telomere maintenance 2							153	143	146					16																	1552970		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1552970C>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1809C>A	16.37:g.1552970C>A	ENSP00000262319:p.Asn603Lys					TELO2_ENST00000564507.1_3'UTR	p.N603K	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			15	2088	+		Hepatocellular(780;0.219)	603					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1809C>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629913	0.67015	.	.	ENSG00000100726	ENST00000262319	T	0.14640	2.49	5.09	3.92	0.45320	Telomere length regulation protein, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.84683	2.71	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	T	0.11203	-1.0597	10	0.38643	T	0.18	-46.705	10.3439	0.43895	0.0:0.845:0.0:0.155	.	603	Q9Y4R8	TELO2_HUMAN	K	603	ENSP00000262319:N603K	ENSP00000262319:N603K	N	+	3	2	TELO2	1492971	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.299000	0.43611	2.391000	0.81399	0.462000	0.41574	AAC		0.642	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		6	142	1	0	5.18039e-06	1	5.89989e-06	6	142					A	1552970	C	A	1552970	3	1	336	1	0	0	0	0	1	0	0	0	15754	564	20	4	1863	4	TELO2	16	1552970	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		1552970	88801783	17	32795											
CPPED1	55313	broad.mit.edu	37	chr16	12798613	12798613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcatgctggcagtgccGctgcctcgcgatgctcagct	14	13	1	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:12798613G>A	ENST00000381774.4	-	3	823	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	195	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGCAGTGCCGCTGCCTCGCG	0.602																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(583-585)Cgg>Tgg		calcineurin-like phosphoesterase domain containing 1							68	71	70					16																	12798613		2135	4255	6390	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798613G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"complete S transactivated protein 1"	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.583C>T	16.37:g.12798613G>A	ENSP00000371193:p.Arg195Trp					CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	p.R195W	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	823	-			195					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.583C>T	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855756	0.32791	.	.	ENSG00000103381	ENST00000381774	D	0.85629	-2.01	5.32	-1.08	0.09936	Metallophosphoesterase domain (1);	0.850116	0.10766	N	0.636608	D	0.86997	0.6068	M	0.62723	1.935	0.09310	N	1	D	0.67145	0.996	P	0.58970	0.849	T	0.76531	-0.2925	10	0.66056	D	0.02	-4.8287	6.7489	0.23475	0.1506:0.0:0.4912:0.3582	.	195	Q9BRF8	CPPED_HUMAN	W	195	ENSP00000371193:R195W	ENSP00000371193:R195W	R	-	1	2	CPPED1	12706114	0.010000	0.17322	0.001000	0.08648	0.004000	0.04260	1.801000	0.38843	-0.014000	0.14175	-0.907000	0.02831	CGG		0.602	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		20	74	0	0	0	1	0	20	74					A	12798613	G	A	12798613	3	1	336	1	0	0	0	0	1	0	0	0	3822	1086	38	1	369	1	CPPED1	16	12798613	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	11245643	12798613	77556140	18	32796											
CDH16	1014	broad.mit.edu	37	chr16	66950067	66950067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcacaagcacaggctgtgGaccccacaagacatgtccat	10	13	0	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:66950067G>A	ENST00000299752.4	-	5	518	c.325C>T	c.(325-327)Cca>Tca	p.P109S	CDH16_ENST00000570262.1_Missense_Mutation_p.P29S|CDH16_ENST00000394055.3_Missense_Mutation_p.P109S|CDH16_ENST00000565796.1_Missense_Mutation_p.P109S|CDH16_ENST00000568632.1_Missense_Mutation_p.P109S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACAGGCTGTGGACCCCACAAG	0.612																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(325-327)Cca>Tca		cadherin 16, KSP-cadherin							137	113	121					16																	66950067		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66950067G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.325C>T	16.37:g.66950067G>A	ENSP00000299752:p.Pro109Ser					CDH16_ENST00000394055.3_Missense_Mutation_p.P109S|CDH16_ENST00000570262.1_Missense_Mutation_p.P29S|CDH16_ENST00000565796.1_Missense_Mutation_p.P109S|CDH16_ENST00000568632.1_Missense_Mutation_p.P109S	p.P109S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	5	518	-		Ovarian(137;0.0563)	109			Cadherin 1.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.325C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	6.106	0.387787	0.11581	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.68765	-0.35;-0.35	4.89	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.361615	0.23801	N	0.044421	T	0.51584	0.1683	L	0.37466	1.105	0.37747	D	0.925814	P;D;D	0.55605	0.617;0.972;0.972	B;B;B	0.41374	0.124;0.355;0.355	T	0.55283	-0.8165	10	0.56958	D	0.05	-5.6699	6.7239	0.23345	0.0957:0.1784:0.7259:0.0	.	109;109;109	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	S	109;109;73	ENSP00000377619:P109S;ENSP00000299752:P109S	ENSP00000299752:P109S	P	-	1	0	CDH16	65507568	1.000000	0.71417	0.930000	0.37139	0.218000	0.24690	2.642000	0.46596	0.664000	0.31047	0.543000	0.68304	CCA		0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		19	80	0	0	0	1	0	19	80					A	66950067	G	A	66950067	3	1	336	1	0	0	0	0	1	0	0	0	3101	1174	41	2	2220	2	CDH16	16	66950067	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	54151454	66950067	23404686	19	32797											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	12	0	0	0	1	0	16	12					A	7577121	G	A	7577121	3	1	336	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		7577121	73618089	20	32798											
C17orf103	256302	broad.mit.edu	37	chr17	21147493	21147493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcaggtccacgatccGcttgcccacgtactcataga	10	14	1	1			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:21147493G>A	ENST00000399011.2	-	3	149	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	C17orf103_ENST00000468196.1_Silent_p.S50S	NM_152914.2	NP_690878.2	Q8N6N6	NATD1_HUMAN		51	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCACGATCCGCTTGCCCACG	0.632																																						ENST00000399011.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(148-150)Cgg>Tgg		chromosome 17 open reading frame 103							46	50	49					17																	21147493		2160	4256	6416	SO:0001583	missense	256302							g.chr17:21147493G>A																												ENST00000399011.2:c.148C>T	17.37:g.21147493G>A	ENSP00000454565:p.Arg50Trp					C17orf103_ENST00000468196.1_Silent_p.S50S	p.R50W	NM_152914.2	NP_690878.2	Q8N6N6	GTL3B_HUMAN			3	149	-			51					A8MWQ7|B3KX70	Missense_Mutation	SNP	ENST00000399011.2	37	c.148C>T																																																																																					0.632	C17orf103-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	37	0	0	0	1	0	3	37					A	21147493	G	A	21147493	3	1	336	1	0	0	0	0	1	0	0	0	1850	1086	38	1	77	1	C17orf103	17	21147493	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	13570372	21147493	60047717	21	32799											
C3	718	broad.mit.edu	37	chr19	6709693	6709693	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttgggtcactggcccttAccttactctgcgtcagtttg	10	13	3	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:6709693A>G	ENST00000245907.6	-	14	1938		c.e14+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						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)	ACTGGCCCTTACCTTACTCTG	0.627																																						ENST00000245907.6																			0				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						c.e14+1		complement component 3							134	141	139					19																	6709693		2203	4300	6503	SO:0001630	splice_region_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6709693A>G	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.1845+1T>C	19.37:g.6709693A>G								NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	14	1938	-								A7E236	Splice_Site	SNP	ENST00000245907.6	37		CCDS32883.1	.	.	.	.	.	.	.	.	.	.	a	12.66	2.005957	0.35415	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4868	0.61371	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C3	6660693	1.000000	0.71417	0.951000	0.38953	0.316000	0.28119	5.221000	0.65272	1.848000	0.53677	0.449000	0.29647	.		0.627	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	Intron	26	181	0	0	0	1	0	26	181					G	6709693	A	G	6709693	5	3	336	1	0	0	0	0	0	0	1	0	2204	405	14	3	3256	3	C3	19	6709693	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		6709693	52419290	22	32800											
CYP4F22	126410	broad.mit.edu	37	chr19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcttcaaccagagcGctgacattatgcatgtgagt	10	8	2	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:15648459G>A	ENST00000269703.3	+	6	734	c.535G>A	c.(535-537)Gct>Act	p.A179T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A179T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	179						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACCAGAGCGCTGACATTAT	0.547																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(535-537)Gct>Act		cytochrome P450, family 4, subfamily F, polypeptide 22							115	111	112					19																	15648459		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648459G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.535G>A	19.37:g.15648459G>A	ENSP00000269703:p.Ala179Thr					CYP4F22_ENST00000601005.2_Missense_Mutation_p.A179T	p.A179T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			6	734	+			179					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.535G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.688968	0.00738	.	.	ENSG00000171954	ENST00000269703	T	0.69926	-0.44	5.37	-2.46	0.06461	.	0.114391	0.64402	N	0.000019	T	0.35451	0.0932	N	0.16201	0.385	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35992	-0.9766	10	0.02654	T	1	.	6.4665	0.21985	0.5929:0.0:0.2978:0.1093	.	179	Q6NT55	CP4FN_HUMAN	T	179	ENSP00000269703:A179T	ENSP00000269703:A179T	A	+	1	0	CYP4F22	15509459	0.011000	0.17503	0.000000	0.03702	0.304000	0.27724	0.575000	0.23729	-1.028000	0.03321	-2.021000	0.00431	GCT		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		5	144	0	0	0	1	0	5	144					A	15648459	G	A	15648459	3	1	336	1	0	0	0	0	1	0	0	0	4189	1087	38	1	549	1	CYP4F22	19	15648459	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	8938766	15648459	43480524	23	32801											
SIM2	6493	broad.mit.edu	37	chr21	38098527	38098527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgtgggccagtcgctGccacccagtgccatcaccga	13	16	1	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr21:38098527G>A	ENST00000290399.6	+	6	1264	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SIM2_ENST00000430056.3_Silent_p.L217L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	217					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCAGTCGCTGCCACCCAGTG	0.542																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(649-651)ctG>ctA		single-minded family bHLH transcription factor 2							114	94	101					21																	38098527		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38098527G>A		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.651G>A	21.37:g.38098527G>A						SIM2_ENST00000430056.3_Silent_p.L217L	p.L217L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			6	1264	+			217					O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.651G>A	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	G	9.780	1.175115	0.21704	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.44	1.48	0.22813	.	.	.	.	.	T	0.45856	0.1363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22626	-1.0211	4	.	.	.	.	3.9121	0.09207	0.1677:0.2102:0.5143:0.1077	.	.	.	.	T	155	.	.	A	+	1	0	SIM2	37020397	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	1.417000	0.34770	0.057000	0.16193	0.655000	0.94253	GCC		0.542	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		26	61	0	0	0	1	0	26	61					A	38098527	G	A	38098527	2	1	336	1	0	0	0	0	0	0	0	1	14324	1306	46	2		2	SIM2	21	38098527	Silent	SNP	G	TCGA-HW-7489-01A-11D-2024-08		38098527	10031368	24	32802											
ARHGAP8	23779	broad.mit.edu	37	chr22	45221460	45221460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacacagcagtttggcGtcagtctgcaatagtaagtg	11	10	2	0	rs140257857		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr22:45221460G>A	ENST00000389774.2	+	8	817	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V195I|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.V405I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V317I|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V405I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V195I|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V326I	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	226	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|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)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GCAGTTTGGCGTCAGTCTGCA	0.642																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1213-1215)Gtc>Atc				G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	3,4395	6.2+/-15.9	0,3,2196	26	26	26		676,583,949,583	3.6	1	22	dbSNP_134	26	0,8596		0,0,4298	no	missense,missense,missense,missense	ARHGAP8,PRR5-ARHGAP8	NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2	29,29,29,29	0,3,6494	AA,AG,GG		0.0,0.0682,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	226/465,195/306,317/556,195/434	45221460	3,12991	2199	4298	6497	SO:0001583	missense	0							g.chr22:45221460G>A	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.676G>A	22.37:g.45221460G>A	ENSP00000374424:p.Val226Ile					PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V326I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V195I|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V226I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V317I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V195I|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V405I	p.V405I							12	1213	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.1213G>A	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	g	15.55	2.867211	0.51588	6.82E-4	0.0	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099	T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77	4.6	3.59	0.41128	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.36134	U	0.002775	T	0.60741	0.2292	M	0.88979	2.995	0.40727	D	0.982719	P;B;D;B;B;B;P	0.71674	0.614;0.354;0.998;0.299;0.354;0.051;0.882	B;B;P;B;B;B;B	0.50405	0.107;0.061;0.64;0.074;0.107;0.008;0.281	T	0.68652	-0.5352	10	0.52906	T	0.07	.	10.698	0.45909	0.0903:0.0:0.9097:0.0	.	231;195;231;226;236;405;326	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3	.;.;.;RHG08_HUMAN;.;.;.	I	326;405;405;317;226;195;195	ENSP00000354732:V326I;ENSP00000262731:V405I;ENSP00000429240:V405I;ENSP00000374423:V317I;ENSP00000374424:V226I;ENSP00000337287:V195I;ENSP00000348407:V195I	ENSP00000337287:V195I	V	+	1	0	PRR5-ARHGAP8;ARHGAP8	43600124	1.000000	0.71417	0.984000	0.44739	0.141000	0.21300	6.804000	0.75186	1.146000	0.42352	-0.141000	0.14075	GTC		0.642	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		3	28	0	0	0	1	0	3	28					A	45221460	G	A	45221460	3	1	336	1	0	0	0	0	1	0	0	0	888	1145	40	1	702	1	ARHGAP8	22	45221460	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		45221460	6083106	25	32803											
FRMPD4	9758	broad.mit.edu	37	chrX	12734264	12734264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatgaccacctttattggCgaaggggaacaagaagccca	10	10	0	2	rs377028350		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:12734264C>T	ENST00000380682.1	+	15	2192	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	562					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTTATTGGCGAAGGGGAAC	0.468																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1684-1686)ggC>ggT		FERM and PDZ domain containing 4		C		0,3835		0,0,1632,571	130	124	126		1686	-4	0.8	X		126	1,6727		0,1,2427,1872	no	coding-synonymous	FRMPD4	NM_014728.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		562/1323	12734264	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734264C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1686C>T	X.37:g.12734264C>T							p.G562G	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2192	+			562					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1686C>T	CCDS35201.1																																																																																				0.468	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		9	75	0	0	0	1	0	9	75					T	12734264	C	T	12734264	2	4	336	1	0	0	0	0	0	0	0	1	6059	755	27	1		1	FRMPD4	23	12734264	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		12734264	142536296	26	32804											
ATRX	546	broad.mit.edu	37	chrX	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T													cagaagaattacgcttatccINSttttttctcactggaactga							TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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						TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2092-2094)agafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938654_76938655insT	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.2094dupA	X.37:g.76938660_76938660dupT	ENSP00000362441:p.Lys698fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R660fs|ATRX_ENST00000480283.1_5'UTR	p.R698fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2307_2308	-			698					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.2093_2094insA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		77	55						77	55	---	---	---	---	T	76938655	-	T	76938654	7	5	336	1	0	1	1	0	0	0	0	0	1208	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-HW-7489-01A-11D-2024-08	64204390	76938654	78331906	27	32805											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17961457	17961457	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacctatgacaaggacaatGtgctcatccagcactcaggc	9	13	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:17961457G>C	ENST00000361221.3	+	18	2032	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V383L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V620L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V398L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V328L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	625						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)		CAAGGACAATGTGCTCATCCA	0.642																																						ENST00000361221.3																			0				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						c.(1873-1875)Gtg>Ctg		Rho guanine nucleotide exchange factor (GEF) 10-like							75	70	72					1																	17961457		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17961457G>C	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.1873G>C	1.37:g.17961457G>C	ENSP00000355060:p.Val625Leu					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V620L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V383L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V398L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V328L	p.V625L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		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)	18	2032	+		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)	625					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1873G>C	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	0.347	-0.947075	0.02304	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.59906	0.57;0.59;0.37;0.59;0.23;0.29;2.57	4.65	2.67	0.31697	.	0.817856	0.10784	N	0.634532	T	0.32041	0.0816	N	0.04880	-0.145	0.22656	N	0.998884	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;0.001;0.001;0.001;0.0;0.001;0.001;0.0	T	0.19484	-1.0304	10	0.10902	T	0.67	-7.3736	9.0371	0.36293	0.0842:0.1479:0.7679:0.0	.	398;383;620;328;386;581;586;625	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	L	625;586;620;586;383;398;398;328	ENSP00000355060:V625L;ENSP00000399401:V586L;ENSP00000394621:V620L;ENSP00000364564:V586L;ENSP00000364569:V383L;ENSP00000364557:V398L;ENSP00000167825:V328L	ENSP00000167825:V328L	V	+	1	0	ARHGEF10L	17834044	0.235000	0.23794	0.951000	0.38953	0.013000	0.08279	1.085000	0.30840	0.450000	0.26774	0.655000	0.94253	GTG		0.642	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	43	0	0	0	0.00024832	0	3	43					C	17961457	G	C	17961457	3	2	337	1	0	0	0	0	1	0	0	0	895	1377	48	4	1939	4	ARHGEF10L	1	17961457	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		17961457	231289164	1	32806											
ARID1A	8289	broad.mit.edu	37	chr1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-													gtcctctcagcctccatactCccagcagccatcccagcctc							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					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)		CCTCCATACTCCCAGCAGCCA	0.632			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(1555-1557)tcfs		AT rich interactive domain 1A (SWI-like)							273	255	261					1																	27057848		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057848delC	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.1556delC	1.37:g.27057848delC	ENSP00000320485:p.Ser519fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs	p.S519fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	3	1927	+		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)	519					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1556delC	CCDS285.1																																																																																				0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		25	245						25	245	---	---	---	---	-	27057848	C	-	27057848	7	5	337	1	0	1	0	1	0	0	0	0	913	855	30	0	1566	0	ARID1A	1	27057848	Frame_Shift_Del	DEL	C	TCGA-HW-7490-01A-11D-2024-08	9096391	27057848	222192773	2	32807											
S1PR1	1901	broad.mit.edu	37	chr1	101705575	101705575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaattcaagcgacccatcatCgccggcatggaattcagccg	9	13	3	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:101705575C>T	ENST00000305352.6	+	2	1410	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	345					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						GACCCATCATCGCCGGCATGG	0.557																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(1033-1035)atC>atT		sphingosine-1-phosphate receptor 1							80	85	83					1																	101705575		2202	4300	6502	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705575C>T	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.1035C>T	1.37:g.101705575C>T							p.I345I	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1410	+			345					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.1035C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	3.890	-0.024226	0.07634	.	.	ENSG00000170989	ENST00000424264	.	.	.	5.24	-2.48	0.06423	.	.	.	.	.	T	0.44829	0.1312	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54410	-0.8298	5	0.51188	T	0.08	.	8.3944	0.32548	0.0:0.3457:0.1059:0.5484	.	.	.	.	L	328	.	ENSP00000413066:S328L	S	+	2	0	S1PR1	101478163	0.019000	0.18553	0.735000	0.30896	0.609000	0.37215	-1.669000	0.01958	-0.339000	0.08401	-0.680000	0.03767	TCG		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		7	154	0	0	0	0.00198382	0	7	154					T	101705575	C	T	101705575	2	4	337	1	0	0	0	0	0	0	0	1	13793	874	31	1		1	S1PR1	1	101705575	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	74647727	101705575	147545046	3	32808											
ASPM	259266	broad.mit.edu	37	chr1	197070598	197070599	+	Frame_Shift_Del	DEL	TC	TC	-													ttcattgtgttgaaatacttTctgtttctttttatttgctc					rs587783270|rs199422173|rs144088344		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:197070598_197070599delTC	ENST00000367409.4	-	18	8038_8039	c.7782_7783delGA	c.(7780-7785)cagaaafs	p.K2595fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2595					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)		p.Q2594Q(1)		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						TGAAATACTTTCTGTTTCTTTT	0.356																																						ENST00000367409.4																			1	Substitution - coding silent(1)	p.Q2594Q(1)	urinary_tract(1)	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						c.(7780-7785)caaafs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			,	5,4261		2,1,2130					,	2.7	0			52	3,8251		0,3,4124	no	frameshift,intron	ASPM	NM_018136.4,NM_001206846.1	,	2,4,6254	A1A1,A1R,RR		0.0363,0.1172,0.0639	,	,		8,12512				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070598_197070599delTC	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.7782_7783delGA	1.37:g.197070598_197070599delTC	ENSP00000356379:p.Lys2595fs					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.QK2594fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	8038_8039	-			2594					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	ENST00000367409.4	37	c.7782_7783delGA	CCDS1389.1																																																																																				0.356	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	33						12	33	---	---	---	---	-	197070599	TC	-	197070598	7	5	337	1	0	1	0	1	0	0	0	0	1056	1792	62	0	2694	0	ASPM	1	197070598	Frame_Shift_Del	DEL	TC	TCGA-HW-7490-01A-11D-2024-08	95365023	197070598	52180023	4	32809											
USH2A	7399	broad.mit.edu	37	chr1	215914869	215914869	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcctactgctaacTccacaacttccttgaaaaaa	2	13	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:215914869T>C	ENST00000307340.3	-	60	11945	c.11559A>G	c.(11557-11559)ggA>ggG	p.G3853G	USH2A_ENST00000366943.2_Silent_p.G3853G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3853	Fibronectin type-III 23. {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)		TACTGCTAACTCCACAACTTC	0.358										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(11557-11559)ggA>ggG		Usher syndrome 2A (autosomal recessive, mild)							74	77	76					1																	215914869		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215914869T>C	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.11559A>G	1.37:g.215914869T>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.G3853G	p.G3853G			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	60	11945	-			3853			Fibronectin type-III 23.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.11559A>G	CCDS31025.1																																																																																				0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	63	0	0	0	0.000442599	0	7	63					C	215914869	T	C	215914869	2	2	337	1	0	0	0	0	0	0	0	1	17033	1538	54	3		3	USH2A	1	215914869	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	18844271	215914869	33335752	5	32810											
OR2M5	127059	broad.mit.edu	37	chr1	248308952	248308952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgacattttccttctcctActgtgggtctcgggaaatag	10	10	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248308952A>G	ENST00000366476.1	+	1	503	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	168						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(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TCCTTCTCCTACTGTGGGTCT	0.443																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(502-504)tAc>tGc		olfactory receptor, family 2, subfamily M, member 5							280	264	270					1																	248308952		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308952A>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.503A>G	1.37:g.248308952A>G	ENSP00000355432:p.Tyr168Cys						p.Y168C	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	503	+	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)		168						Missense_Mutation	SNP	ENST00000366476.1	37	c.503A>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	a	13.88	2.370472	0.42003	.	.	ENSG00000162727	ENST00000366476	T	0.00107	8.72	3.28	-2.2	0.06994	GPCR, rhodopsin-like superfamily (1);	0.655352	0.11698	N	0.538251	T	0.00144	0.0004	M	0.62209	1.925	0.09310	N	1	B	0.17268	0.021	B	0.30029	0.11	T	0.44742	-0.9308	10	0.87932	D	0	.	0.4992	0.00576	0.3958:0.1213:0.2238:0.2591	.	168	A3KFT3	OR2M5_HUMAN	C	168	ENSP00000355432:Y168C	ENSP00000355432:Y168C	Y	+	2	0	OR2M5	246375575	0.005000	0.15991	0.002000	0.10522	0.922000	0.55478	-0.120000	0.10660	-0.068000	0.12953	0.403000	0.27427	TAC		0.443	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		12	318	0	0	0	0.00185496	0	12	318					G	248308952	A	G	248308952	3	3	337	1	0	0	0	0	1	0	0	0	11013	391	14	3	505	3	OR2M5	1	248308952	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	32394083	248308952	941669	6	32811											
OR2M7	391196	broad.mit.edu	37	chr1	248487368	248487368	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatttcccgagacccacagTaggagaaggaaaatgtcgct	10	10	0	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248487368T>C	ENST00000317965.2	-	1	531	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	168						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)			AGACCCACAGTAGGAGAAGGA	0.448																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(502-504)tAc>tGc		olfactory receptor, family 2, subfamily M, member 7							194	196	196					1																	248487368		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487368T>C	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.503A>G	1.37:g.248487368T>C	ENSP00000324557:p.Tyr168Cys						p.Y168C	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	531	-	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)		168					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.503A>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	7.405	0.633458	0.14322	.	.	ENSG00000177186	ENST00000317965	T	0.00107	8.72	1.54	0.269	0.15631	GPCR, rhodopsin-like superfamily (1);	1.011580	0.07977	N	0.984945	T	0.00178	0.0005	M	0.63169	1.94	0.20196	N	0.999921	B	0.17268	0.021	B	0.26416	0.069	T	0.30504	-0.9976	10	0.87932	D	0	.	5.8488	0.18681	0.0:0.1512:0.0:0.8488	.	168	Q8NG81	OR2M7_HUMAN	C	168	ENSP00000324557:Y168C	ENSP00000324557:Y168C	Y	-	2	0	OR2M7	246553991	0.001000	0.12720	0.071000	0.20095	0.061000	0.15899	-0.504000	0.06375	-0.093000	0.12396	0.155000	0.16302	TAC		0.448	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		108	174	0	0	0	0.00361006	0	108	174					C	248487368	T	C	248487368	3	2	337	1	0	0	0	0	1	0	0	0	11014	1638	57	3	438	3	OR2M7	1	248487368	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	178416	248487368	763253	7	32812											
ELMOD3	84173	broad.mit.edu	37	chr2	85617291	85617291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcagaaggtcatcccCgtggtgaacagcttctatgc	12	12	2	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:85617291C>T	ENST00000409890.2	+	13	1513	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000315658.7_Silent_p.P282P|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000490508.1_3'UTR			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567																																						ENST00000315658.7																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(844-846)ccC>ccT		ELMO/CED-12 domain containing 3							104	84	91					2																	85617291		2203	4300	6503	SO:0001819	synonymous_variant	84173				phagocytosis	cytoskeleton		g.chr2:85617291C>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"RNA binding motif (RRM) containing"	26158	protein-coding gene	gene with protein product		615427	"RNA binding motif protein 29", "RNA binding motif and ELMO/CED-12 domain 1", "deafness, autosomal recessive 88"	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.846C>T	2.37:g.85617291C>T						ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P	p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN			11	1105	+			282			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	37	c.846C>T	CCDS46352.1																																																																																				0.567	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		23	40	0	0	0	0.000720815	0	23	40					T	85617291	C	T	85617291	2	4	337	1	0	0	0	0	0	0	0	1	5070	639	23	1		1	ELMOD3	2	85617291	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		85617291	157582082	8	32813											
GPR39	2863	broad.mit.edu	37	chr2	133175296	133175296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccagcatcttcggcgcCttcgtggtctacctcgtggt	11	14	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:133175296C>T	ENST00000329321.3	+	1	1150	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	227					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)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCGGCGCCTTCGTGGTCT	0.612																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(679-681)gcC>gcT		G protein-coupled receptor 39							86	79	81					2																	133175296		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133175296C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.681C>T	2.37:g.133175296C>T							p.A227A	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	1150	+			227					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.681C>T	CCDS2170.1																																																																																				0.612	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			30	46	0	0	0	0.001512	0	30	46					T	133175296	C	T	133175296	2	4	337	1	0	0	0	0	0	0	0	1	6693	668	24	2		2	GPR39	2	133175296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47558005	133175296	110024077	9	32814											
TANK	10010	broad.mit.edu	37	chr2	162087893	162087893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaactgacaaaacaaagcCctcaaatctcgtaaacactt	3	12	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:162087893C>T	ENST00000392749.2	+	7	1171	c.932C>T	c.(931-933)cCc>cTc	p.P311L	TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.P311L|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.P311L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	311					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAAACAAAGCCCTCAAATCTC	0.383																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(931-933)cCc>cTc		TRAF family member-associated NFKB activator							94	94	94					2																	162087893		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162087893C>T	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.932C>T	2.37:g.162087893C>T	ENSP00000376505:p.Pro311Leu					TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.P311L|TANK_ENST00000405852.1_Missense_Mutation_p.P311L|AC009299.2_ENST00000421122.2_RNA	p.P311L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			7	1171	+			311					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.932C>T	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.962139	0.18583	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.33216	1.89;1.89;1.42;1.43;1.84	5.58	3.73	0.42828	.	0.180894	0.39834	N	0.001256	T	0.27063	0.0663	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.07829	-1.0752	10	0.33940	T	0.23	-0.0016	7.9209	0.29846	0.0:0.7245:0.1388:0.1368	.	311	Q92844	TANK_HUMAN	L	311;311;311;202;66	ENSP00000259075:P311L;ENSP00000376505:P311L;ENSP00000385487:P311L;ENSP00000412556:P202L;ENSP00000387439:P66L	ENSP00000259075:P311L	P	+	2	0	TANK	161796139	0.980000	0.34600	0.973000	0.42090	0.659000	0.38960	1.898000	0.39809	1.456000	0.47831	0.591000	0.81541	CCC		0.383	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		9	106	0	0	0	0.000673444	0	9	106					T	162087893	C	T	162087893	3	4	337	1	0	0	0	0	1	0	0	0	15543	623	22	2	987	2	TANK	2	162087893	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	28912597	162087893	81111480	10	32815											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	53	0	0	0	0.00229938	0	19	53					T	209113112	C	T	209113112	3	4	337	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47025219	209113112	34086261	11	32816											
CCDC108	255101	broad.mit.edu	37	chr2	219868814	219868814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctcactttctcttcCttctcatccctctcctcctc	2	21	4	0	rs73089095	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:219868814C>T	ENST00000341552.5	-	33	5498	c.5415G>A	c.(5413-5415)aaG>aaA	p.K1805K	CCDC108_ENST00000441968.1_Silent_p.K1805K|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Silent_p.K1805K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1805	Glu-rich.					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)		CTTTctcttccttctcatccc	0.557													C|||	15	0.00299521	0.0106	0.0014	5008	,	,		20681	0.0		0.0	False		,,,				2504	0.0					ENST00000341552.5																			0				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						c.(5413-5415)aaG>aaA		coiled-coil domain containing 108		C		28,4378	32.6+/-62.9	0,28,2175	185	172	176		5415	1.6	0	2	dbSNP_130	176	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC108	NM_194302.2		0,29,6474	TT,TC,CC		0.0116,0.6355,0.223		1805/1926	219868814	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219868814C>T	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.5415G>A	2.37:g.219868814C>T						CCDC108_ENST00000453220.1_Silent_p.K1805K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.K1805K	p.K1805K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5498	-		Renal(207;0.0915)	1805			Glu-rich.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.5415G>A	CCDS2430.2																																																																																				0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		5	121	0	0	0	0.000602214	0	5	121					T	219868814	C	T	219868814	2	4	337	1	0	0	0	0	0	0	0	1	2743	680	24	2		2	CCDC108	2	219868814	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10755702	219868814	23330559	12	32817											
SLC6A11	6538	broad.mit.edu	37	chr3	10885932	10885932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccatctctgacgggatcgaGcacatcgggaaccttcgctg	12	13	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:10885932G>C	ENST00000254488.2	+	5	723	c.657G>C	c.(655-657)gaG>gaC	p.E219D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	219					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)	ACGGGATCGAGCACATCGGGA	0.587																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(655-657)gaG>gaC		solute carrier family 6 (neurotransmitter transporter), member 11							127	108	114					3																	10885932		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10885932G>C	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.657G>C	3.37:g.10885932G>C	ENSP00000254488:p.Glu219Asp						p.E219D	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	5	723	+			219					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.657G>C	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189734	0.21954	.	.	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	5.73	1.86	0.25419	.	0.098518	0.64402	N	0.000002	T	0.48114	0.1482	N	0.12569	0.235	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.17776	-1.0358	10	0.08837	T	0.75	.	6.1777	0.20453	0.3388:0.1296:0.5316:0.0	.	219	P48066	S6A11_HUMAN	D	219	ENSP00000254488:E219D	ENSP00000254488:E219D	E	+	3	2	SLC6A11	10860932	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	0.324000	0.19610	0.322000	0.23283	-0.219000	0.12488	GAG		0.587	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		3	41	0	0	0	0.00024832	0	3	41					C	10885932	G	C	10885932	3	2	337	1	0	0	0	0	1	0	0	0	14674	962	34	4	675	4	SLC6A11	3	10885932	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		10885932	187136498	13	32818											
AMOTL2	51421	broad.mit.edu	37	chr3	134078153	134078155	+	In_Frame_Del	DEL	TGT	TGT	-													agccgagcaggggcgtctgcTgtttgtcgctcactagaaga							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:134078153_134078155delTGT	ENST00000422605.2	-	8	2240_2242	c.2074_2076delACA	c.(2074-2076)acadel	p.T692del	AMOTL2_ENST00000514516.1_In_Frame_Del_p.T750del|AMOTL2_ENST00000249883.5_In_Frame_Del_p.T692del|AMOTL2_ENST00000513145.1_In_Frame_Del_p.T690del|RPL39P5_ENST00000273411.2_RNA			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	692					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						GGGCGTCTGCTGTTTGTCGCTCA	0.596																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2248-2250)del		angiomotin like 2																																				SO:0001651	inframe_deletion	51421							g.chr3:134078153_134078155delTGT	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.2074_2076delACA	3.37:g.134078153_134078155delTGT	ENSP00000409999:p.Thr692del					AMOTL2_ENST00000513145.1_In_Frame_Del_p.T690del|AMOTL2_ENST00000422605.2_In_Frame_Del_p.T692del|AMOTL2_ENST00000249883.5_In_Frame_Del_p.T692del	p.T750del	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			8	2426_2428	-			692					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	In_Frame_Del	DEL	ENST00000422605.2	37	c.2248_2250delACA																																																																																					0.596	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		21	67						21	67	---	---	---	---	-	134078155	TGT	-	134078153	7	5	337	1	0	1	0	1	0	0	0	0	584	1567	55	0	278	0	AMOTL2	3	134078153	In_Frame_Del	DEL	TGT	TCGA-HW-7490-01A-11D-2024-08	123192221	134078153	63944277	14	32819											
MAN2B2	23324	broad.mit.edu	37	chr4	6612960	6612960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcgccagaggagcgcaCtggcgctgcagcacaggccc	14	17	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:6612960C>T	ENST00000285599.3	+	15	2554	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	MAN2B2_ENST00000504248.1_Silent_p.L789L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	840					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGGAGCGCACTGGCGCTGCA	0.627																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(2518-2520)Ctg>Ttg		mannosidase, alpha, class 2B, member 2							45	44	44					4																	6612960		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6612960C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2518C>T	4.37:g.6612960C>T						MAN2B2_ENST00000504248.1_Silent_p.L789L	p.L840L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			15	2554	+			840					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.2518C>T	CCDS33951.1																																																																																				0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		15	21	0	0	0	0.00316338	0	15	21					T	6612960	C	T	6612960	2	4	337	1	0	0	0	0	0	0	0	1	9217	564	20	2		2	MAN2B2	4	6612960	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		6612960	184541316	15	32820											
SLIT2	9353	broad.mit.edu	37	chr4	20598163	20598163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatatgtcagtgtttgcCtggctatcagggagaaaagt	12	7	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:20598163C>T	ENST00000504154.1	+	32	3698	c.3446C>T	c.(3445-3447)cCt>cTt	p.P1149L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P1141L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1145L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1162L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1149	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						CAGTGTTTGCCTGGCTATCAG	0.433																																						ENST00000504154.1																			0				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						c.(3445-3447)cCt>cTt		slit homolog 2 (Drosophila)							122	120	121					4																	20598163		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598163C>T	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.3446C>T	4.37:g.20598163C>T	ENSP00000422591:p.Pro1149Leu					SLIT2_ENST00000503823.1_Missense_Mutation_p.P1141L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1162L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1145L	p.P1149L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			32	3698	+			1149			EGF-like 6.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3446C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	9.084	0.999930	0.19121	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	6.17	4.44	0.53790	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.247838	0.47093	D	0.000259	D	0.96759	0.8942	M	0.75615	2.305	0.80722	D	1	D;P	0.53151	0.958;0.938	P;P	0.58928	0.764;0.848	D	0.96119	0.9083	10	0.52906	T	0.07	.	13.7908	0.63140	0.1238:0.7576:0.1186:0.0	.	1141;1149	O94813-3;O94813	.;SLIT2_HUMAN	L	1141;1149;1162;1145;1145	ENSP00000427548:P1141L;ENSP00000422591:P1149L;ENSP00000273739:P1162L;ENSP00000422261:P1145L	ENSP00000273739:P1162L	P	+	2	0	SLIT2	20207261	0.991000	0.36638	0.445000	0.26908	0.001000	0.01503	2.927000	0.48900	0.919000	0.36945	-1.107000	0.02091	CCT		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	66	0	0	0	0.00024832	0	4	66					T	20598163	C	T	20598163	3	4	337	1	0	0	0	0	1	0	0	0	14740	681	24	2	3572	2	SLIT2	4	20598163	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	13985203	20598163	170556113	16	32821											
COL25A1	84570	broad.mit.edu	37	chr4	109805344	109805344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatttacctttatccccGgaagtccaggaagcccagga	9	12	0	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:109805344G>A	ENST00000399132.1	-	19	1540	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P337L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P333L	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)		CTTTATCCCCGGAAGTCCAGG	0.413																																						ENST00000399132.1																			0				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						c.(1009-1011)cCg>cTg		collagen, type XXV, alpha 1							73	69	70					4																	109805344		1843	4080	5923	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109805344G>A	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.1010C>T	4.37:g.109805344G>A	ENSP00000382083:p.Pro337Leu					COL25A1_ENST00000399126.1_Missense_Mutation_p.P337L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P333L	p.P337L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	19	1540	-		Hepatocellular(203;0.217)	337			Collagen-like 4.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1010C>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430938	0.62844	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000399127;ENST00000399126;ENST00000443653	T;T;T	0.32753	1.44;1.44;1.44	5.49	5.49	0.81192	.	0.236919	0.42821	D	0.000660	T	0.60894	0.2304	M	0.84156	2.68	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.63528	-0.6617	9	.	.	.	-4.114	18.3662	0.90391	0.0:0.0:1.0:0.0	.	337;337	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	L	337;339;333;337;267	ENSP00000382083:P337L;ENSP00000382078:P333L;ENSP00000382077:P337L	.	P	-	2	0	COL25A1	110024793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.511000	0.81718	2.566000	0.86566	0.557000	0.71058	CCG		0.413	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		21	43	0	0	0	0.00278032	0	21	43					A	109805344	G	A	109805344	3	1	337	1	0	0	0	0	1	0	0	0	3684	1116	39	1	1118	1	COL25A1	4	109805344	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	89207181	109805344	81348932	17	32822											
KLKB1	3818	broad.mit.edu	37	chr4	187158067	187158067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtttttttcatatgccaCgcaaacatttcacaaggcag	6	11	2	0	rs373868869		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:187158067C>T	ENST00000264690.6	+	5	648	c.461C>T	c.(460-462)aCg>aTg	p.T154M	KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	154	Apple 2. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCATATGCCACGCAAACATTT	0.408																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(460-462)aCg>aTg		kallikrein B, plasma (Fletcher factor) 1							106	104	105					4																	187158067		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187158067C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"Kallikreins"	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.461C>T	4.37:g.187158067C>T	ENSP00000264690:p.Thr154Met					KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M	p.T154M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	5	648	+		all_cancers(14;1.55e-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;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	154			Apple 2.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.461C>T	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.58|12.58	1.980096|1.980096	0.34942|0.34942	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000446598;ENST00000513864;ENST00000418715	.|D;D;D	.|0.89196	.|-2.48;-2.48;-2.48	4.91|4.91	3.18|3.18	0.36537|0.36537	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.165377	.|0.41396	.|D	.|0.000896	D|D	0.93756|0.93756	0.8004|0.8004	M|M	0.86953|0.86953	2.85|2.85	0.27825|0.27825	N|N	0.941656|0.941656	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72982	.|0.979;0.968	D|D	0.87696|0.87696	0.2557|0.2557	5|10	.|0.87932	.|D	.|0	.|.	8.4851|8.4851	0.33067|0.33067	0.0:0.7638:0.1541:0.082|0.0:0.7638:0.1541:0.082	.|.	.|116;154	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	C|M	202|154;116;154;116	.|ENSP00000264690:T154M;ENSP00000415563:T116M;ENSP00000424469:T154M	.|ENSP00000264690:T154M	R|T	+|+	1|2	0|0	KLKB1|KLKB1	187395061|187395061	0.951000|0.951000	0.32395|0.32395	0.603000|0.603000	0.28903|0.28903	0.047000|0.047000	0.14425|0.14425	2.100000|2.100000	0.41777|0.41777	0.653000|0.653000	0.30826|0.30826	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.408	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		5	58	0	0	0	0.00198382	0	5	58					T	187158067	C	T	187158067	3	4	337	1	0	0	0	0	1	0	0	0	8412	536	19	1	475	1	KLKB1	4	187158067	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	77352723	187158067	3996209	18	32823											
TNIP1	10318	broad.mit.edu	37	chr5	150425452	150425454	+	In_Frame_Del	DEL	CTT	CTT	-													tgctgctccagcatcttcacCttcttctcggctgcgcccaa							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:150425452_150425454delCTT	ENST00000389378.2	-	9	1492_1494	c.904_906delAAG	c.(904-906)aagdel	p.K302del	TNIP1_ENST00000521591.1_In_Frame_Del_p.K302del|TNIP1_ENST00000520931.1_In_Frame_Del_p.K249del|TNIP1_ENST00000523200.1_In_Frame_Del_p.K302del|TNIP1_ENST00000524280.1_In_Frame_Del_p.K302del|TNIP1_ENST00000523338.1_In_Frame_Del_p.K302del|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000315050.7_In_Frame_Del_p.K302del|TNIP1_ENST00000522226.1_In_Frame_Del_p.K302del|TNIP1_ENST00000518977.1_In_Frame_Del_p.K302del	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	302	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCTTCACCTTCTTCTCGGCT	0.601																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(904-906)del		TNFAIP3 interacting protein 1																																				SO:0001651	inframe_deletion	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150425452_150425454delCTT	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.904_906delAAG	5.37:g.150425455_150425457delCTT	ENSP00000374029:p.Lys302del					TNIP1_ENST00000520931.1_In_Frame_Del_p.K249del|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_In_Frame_Del_p.K302del|TNIP1_ENST00000522226.1_In_Frame_Del_p.K302del|TNIP1_ENST00000524280.1_In_Frame_Del_p.K302del|TNIP1_ENST00000523338.1_In_Frame_Del_p.K302del|TNIP1_ENST00000315050.7_In_Frame_Del_p.K302del|TNIP1_ENST00000523200.1_In_Frame_Del_p.K302del|TNIP1_ENST00000518977.1_In_Frame_Del_p.K302del	p.K302del	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1492_1494	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	302			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	In_Frame_Del	DEL	ENST00000389378.2	37	c.904_906delAAG	CCDS34280.1																																																																																				0.601	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		14	96						14	96	---	---	---	---	-	150425454	CTT	-	150425452	7	5	337	1	0	1	0	1	0	0	0	0	16311	680	24	0	1044	0	TNIP1	5	150425452	In_Frame_Del	DEL	CTT	TCGA-HW-7490-01A-11D-2024-08		150425452	30489808	19	32824											
SCAND3	114821	broad.mit.edu	37	chr6	28540794	28540794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatttaaattccaaaccacAtttgttaacaatataattct	1	7	1	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:28540794A>G	ENST00000452236.2	-	4	3489	c.2872T>C	c.(2872-2874)Tgt>Cgt	p.C958R	SCAND3_ENST00000530247.1_5'Flank	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						tccaaaccacatttgttaaca	0.353																																						ENST00000452236.2																			0				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						c.(2872-2874)Tgt>Cgt		SCAN domain containing 3							43	43	43					6																	28540794		2202	4299	6501	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540794A>G																												ENST00000452236.2:c.2872T>C	6.37:g.28540794A>G	ENSP00000395259:p.Cys958Arg						p.C958R	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3489	-			958						Missense_Mutation	SNP	ENST00000452236.2	37	c.2872T>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	A	9.615	1.132184	0.21041	.	.	ENSG00000232040	ENST00000452236	T	0.21361	2.01	2.14	2.14	0.27477	Ribonuclease H-like (1);	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.47476	D	0.999438	D	0.55800	0.973	D	0.77557	0.99	T	0.11690	-1.0577	9	0.26408	T	0.33	.	6.2738	0.20969	1.0:0.0:0.0:0.0	.	958	Q6R2W3	SCND3_HUMAN	R	958	ENSP00000395259:C958R	ENSP00000395259:C958R	C	-	1	0	SCAND3	28648773	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	2.200000	0.42724	1.237000	0.43756	0.459000	0.35465	TGT		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			9	45	0	0	0	0.000274275	0	9	45					G	28540794	A	G	28540794	3	3	337	1	0	0	0	0	1	0	0	0	13876	217	8	3	1109	3	SCAND3	6	28540794	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08		28540794	142574273	20	32825											
C6orf138	442213	broad.mit.edu	37	chr6	47976601	47976601	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctggtcttatgaaAgtccctccagaggctaaagg	12	9	1	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:47976601A>T	ENST00000339488.4	-	2	709	c.676T>A	c.(676-678)Ttt>Att	p.F226I	PTCHD4_ENST00000543600.1_Missense_Mutation_p.F209I	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	226						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GTCTTATGAAAGTCCCTCCAG	0.527																																						ENST00000543600.1																			0											c.(625-627)Ttt>Att		patched domain containing 4							72	72	72					6																	47976601		1975	4181	6156	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976601A>T		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.676T>A	6.37:g.47976601A>T	ENSP00000341914:p.Phe226Ile					PTCHD4_ENST00000339488.4_Missense_Mutation_p.F226I	p.F209I			Q6ZW05	CF138_HUMAN			2	664	-			226					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.625T>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.582380|4.582380	0.86748|0.86748	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.83837|.	-1.77;-1.77|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68869|0.68869	0.3048|0.3048	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.302;0.997|.	B;D|.	0.80764|.	0.205;0.994|.	T|T	0.68981|0.68981	-0.5266|-0.5266	10|5	0.27082|.	T|.	0.32|.	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	226;209|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	I|H	226;209|225	ENSP00000341914:F226I;ENSP00000439864:F209I|.	ENSP00000341914:F226I|.	F|L	-|-	1|2	0|0	C6orf138|C6orf138	48084560|48084560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.962000|8.962000	0.93254|0.93254	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.527	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		18	35	0	0	0	0.00074312	0	18	35					T	47976601	A	T	47976601	3	4	337	1	0	0	0	0	1	0	0	0	2332	72	3	5	1872	5	C6orf138	6	47976601	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	19435807	47976601	123138466	21	32826											
KIAA1009	22832	broad.mit.edu	37	chr6	84896099	84896100	+	Frame_Shift_Ins	INS	-	-	A													tgaagaattaacagttatttINSttttcctcaaaatattaagg							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896099_84896100insA	ENST00000403245.3	-	12	1465_1466	c.1351_1352insT	c.(1351-1353)aaafs	p.K451fs	KIAA1009_ENST00000257766.4_Frame_Shift_Ins_p.K375fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACAGTTATTTTTTTCCTCAAA	0.307																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1351-1353)aatfs		KIAA1009																																				SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896099_84896100insA																												ENST00000403245.3:c.1351_1352insT	6.37:g.84896099_84896100insA	ENSP00000385215:p.Lys451fs					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Ins_p.N375fs	p.N451fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1465_1466	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	451						Frame_Shift_Ins	INS	ENST00000403245.3	37	c.1351_1352insT	CCDS34494.2																																																																																				0.307	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			19	54						19	54	---	---	---	---	A	84896100	-	A	84896099	7	5	337	1	0	1	1	0	0	0	0	0	8203	1841	64	0	2923	0	KIAA1009	6	84896099	Frame_Shift_Ins	INS	-	TCGA-HW-7490-01A-11D-2024-08	36919498	84896099	86218968	22	32827	145	2									
KIAA1009	22832	broad.mit.edu	37	chr6	84896105	84896105	+	Missense_Mutation	SNP	C	C	A													aattaacagttatttttttcCtcaaaatattaaggtacatt							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896105C>A	ENST00000403245.3	-	12	1460	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	KIAA1009_ENST00000257766.4_Missense_Mutation_p.R373M|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TATTTTTTTCCTCAAAATATT	0.308																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1345-1347)aGg>aTg		KIAA1009							85	90	88					6																	84896105		2202	4294	6496	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896105C>A																												ENST00000403245.3:c.1346G>T	6.37:g.84896105C>A	ENSP00000385215:p.Arg449Met					KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R373M	p.R449M	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1460	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	449						Missense_Mutation	SNP	ENST00000403245.3	37	c.1346G>T	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116807	0.37339	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.21191	2.02;2.03	6.06	-0.194	0.13240	.	0.526044	0.21329	N	0.076331	T	0.18257	0.0438	M	0.63428	1.95	0.22240	N	0.999268	D;D	0.71674	0.997;0.998	P;D	0.63113	0.874;0.911	T	0.06445	-1.0826	10	0.72032	D	0.01	-1.78	5.6563	0.17644	0.1289:0.3869:0.0:0.4841	.	449;449	Q5TB80;C9JFM9	QN1_HUMAN;.	M	373;449	ENSP00000257766:R373M;ENSP00000385215:R449M	ENSP00000257766:R373M	R	-	2	0	KIAA1009	84952824	0.870000	0.30015	0.983000	0.44433	0.170000	0.22686	-0.299000	0.08254	-0.346000	0.08312	0.650000	0.86243	AGG		0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			24	56	1	0	9.95505e-16	0.00229938	3.13339e-15	24	56					A	84896105	C	A	84896105	3	1	337	1	0	0	0	0	1	0	0	0	8203	681	24	4	2929	4	KIAA1009	6	84896105	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	6	84896105	86218962	23	32828	145	2									
CDK14	5218	broad.mit.edu	37	chr7	90613505	90613505	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatccaaggagttgcTgcttttccaggaatgaaaga	11	6	0	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:90613505T>A	ENST00000380050.3	+	10	1121	c.990T>A	c.(988-990)gcT>gcA	p.A330A	CDK14_ENST00000406263.1_Silent_p.A284A|CDK14_ENST00000265741.3_Silent_p.A312A|CDK14_ENST00000436577.2_Silent_p.A201A			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGAGTTGCTGCTTTTCCAG	0.348																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(850-852)gcT>gcA		cyclin-dependent kinase 14							171	168	169					7																	90613505		2203	4300	6503	SO:0001819	synonymous_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90613505T>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"Cyclin-dependent kinases"	8883	protein-coding gene	gene with protein product		610679	"PFTAIRE protein kinase 1"	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.990T>A	7.37:g.90613505T>A						CDK14_ENST00000380050.3_Silent_p.A330A|CDK14_ENST00000436577.2_Silent_p.A201A|CDK14_ENST00000265741.3_Silent_p.A312A	p.A284A			O94921	CDK14_HUMAN			9	1294	+			330			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.852T>A																																																																																					0.348	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		38	100	0	0	0	0.00148497	0	38	100					A	90613505	T	A	90613505	2	1	337	1	0	0	0	0	0	0	0	1	3130	1567	55	5		5	CDK14	7	90613505	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		90613505	68525158	24	32829											
CYP3A7	1551	broad.mit.edu	37	chr7	99312223	99312224	+	Frame_Shift_Del	DEL	TT	TT	-													tcttttatctgttttacagaTtttgttagaaaacttataac							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:99312223_99312224delTT	ENST00000336374.2	-	8	754_755	c.752_753delAA	c.(751-753)aaafs	p.K251fs	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	251					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)	GTTTTACAGATTTTGTTAGAAA	0.312																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(751-753)afs		cytochrome P450, family 3, subfamily A, polypeptide 7																																				SO:0001589	frameshift_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99312223_99312224delTT	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.752_753delAA	7.37:g.99312225_99312226delTT	ENSP00000337450:p.Lys251fs						p.K251fs	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			8	754_755	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		251					A4D288|Q9H241	Frame_Shift_Del	DEL	ENST00000336374.2	37	c.752_753delAA	CCDS5673.1																																																																																				0.312	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			19	90						19	90	---	---	---	---	-	99312224	TT	-	99312223	7	5	337	1	0	1	0	1	0	0	0	0	4181	1490	52	0	782	0	CYP3A7	7	99312223	Frame_Shift_Del	DEL	TT	TCGA-HW-7490-01A-11D-2024-08	8698718	99312223	59826440	25	32830											
GIGYF1	64599	broad.mit.edu	37	chr7	100280314	100280314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccaggccgctgctgccGcccccactcttgtctggccc	10	21	2	0	rs201075699		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:100280314G>A	ENST00000275732.5	-	20	3708	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	833					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCT	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		12319	0.001		0.0	False		,,,				2504	0.0					ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2497-2499)ggC>ggT		GRB10 interacting GYF protein 1							10	13	12					7																	100280314		2146	4232	6378	SO:0001819	synonymous_variant	64599							g.chr7:100280314G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2499C>T	7.37:g.100280314G>A							p.G833G	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			20	3708	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		833					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.2499C>T	CCDS34708.1																																																																																				0.697	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		5	16	0	0	0	0.00198382	0	5	16					A	100280314	G	A	100280314	2	1	337	1	0	0	0	0	0	0	0	1	6377	1074	38	1		1	GIGYF1	7	100280314	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	968091	100280314	58858349	26	32831											
XKR9	389668	broad.mit.edu	37	chr8	71646066	71646066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctgtgctatttctTggtcaactgttgattatcaa	7	8	4	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:71646066T>C	ENST00000408926.3	+	5	1063	c.529T>C	c.(529-531)Tgg>Cgg	p.W177R	XKR9_ENST00000520030.1_Missense_Mutation_p.W177R|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	177						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)			TGCTATTTCTTGGTCAACTGT	0.299																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(529-531)Tgg>Cgg		XK, Kell blood group complex subunit-related family, member 9							68	61	64					8																	71646066		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71646066T>C	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.529T>C	8.37:g.71646066T>C	ENSP00000386141:p.Trp177Arg					XKR9_ENST00000520030.1_Missense_Mutation_p.W177R|XKR9_ENST00000520273.1_Intron	p.W177R	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1063	+	Breast(64;0.0716)		177					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.529T>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056377	0.55325	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.72835	-0.69;-0.69	4.69	2.14	0.27477	.	0.813151	0.11881	N	0.520537	T	0.80341	0.4605	M	0.77486	2.375	0.53688	D	0.999978	D	0.55172	0.97	P	0.57620	0.824	T	0.77991	-0.2379	10	0.62326	D	0.03	8.6529	11.4241	0.50001	0.0:0.0:0.2876:0.7124	.	177	Q5GH70	XKR9_HUMAN	R	177	ENSP00000386141:W177R;ENSP00000431088:W177R	ENSP00000386141:W177R	W	+	1	0	XKR9	71808620	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	2.461000	0.45040	0.339000	0.23719	0.460000	0.39030	TGG		0.299	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		5	47	0	0	0	0.00116845	0	5	47					C	71646066	T	C	71646066	3	2	337	1	0	0	0	0	1	0	0	0	17435	1812	63	3	539	3	XKR9	8	71646066	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08		71646066	74717956	27	32832											
FAM82B	51115	broad.mit.edu	37	chr8	87498754	87498755	+	Frame_Shift_Del	DEL	TT	TT	-													ttcatttttttctagtgctcTttttgcatactctagggctt							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:87498754_87498755delTT	ENST00000406452.3	-	4	612_613	c.453_454delAA	c.(451-456)aaaagafs	p.R152fs	CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Frame_Shift_Del_p.R108fs|RMDN1_ENST00000519966.1_Frame_Shift_Del_p.R152fs|RMDN1_ENST00000430676.2_Frame_Shift_Del_p.R152fs	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	152						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTAGTGCTCTTTTTGCATACT	0.396																																						ENST00000406452.3																			0											c.(451-456)aagafs		regulator of microtubule dynamics 1																																				SO:0001589	frameshift_variant	51115							g.chr8:87498754_87498755delTT	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.453_454delAA	8.37:g.87498756_87498757delTT	ENSP00000385927:p.Arg152fs					RMDN1_ENST00000430676.2_Frame_Shift_Del_p.KR151fs|RMDN1_ENST00000519966.1_Frame_Shift_Del_p.KR151fs|RMDN1_ENST00000523911.1_Frame_Shift_Del_p.KR107fs|CPNE3_ENST00000198765.4_Intron	p.KR151fs	NM_016033.2	NP_057117.2					4	612_613	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Del	DEL	ENST00000406452.3	37	c.453_454delAA	CCDS34918.1																																																																																				0.396	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		7	60						7	60	---	---	---	---	-	87498755	TT	-	87498754	7	5	337	1	0	1	0	1	0	0	0	0	5632	1617	56	0	518	0	FAM82B	8	87498754	Frame_Shift_Del	DEL	TT	TCGA-HW-7490-01A-11D-2024-08	15852688	87498754	58865268	28	32833											
RUNX1T1	862	broad.mit.edu	37	chr8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcccagaacgagggtgCgaactctttctcctatctcg	9	13	3	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:93026829C>T	ENST00000523629.1	-	4	900	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H	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)	149	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				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)	p.R160H(1)|p.R112H(1)|p.R149H(1)		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)			AACGAGGGTGCGAACTCTTTC	0.507																																						ENST00000523629.1																			3	Substitution - Missense(3)	p.R160H(1)|p.R112H(1)|p.R149H(1)	large_intestine(3)	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						c.(445-447)cGc>cAc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							120	112	115					8																	93026829		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93026829C>T	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.446G>A	8.37:g.93026829C>T	ENSP00000428543:p.Arg149His					RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H	p.R149H	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	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	900	-			149			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.446G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957546	0.92726	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	6.05	6.05	0.98169	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.70595	2.14	0.80722	D	1	P;D;D;D;D	0.76494	0.93;0.98;0.999;0.98;0.996	P;D;D;D;D	0.69479	0.565;0.949;0.964;0.949;0.917	T	0.73122	-0.4082	10	0.66056	D	0.02	-19.2647	20.6013	0.99457	0.0:1.0:0.0:0.0	.	160;160;122;149;122	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	H	149;122;149;112;112;112;160;122;112;149;112;149;112;149	ENSP00000428543:R149H;ENSP00000379520:R122H;ENSP00000265814:R149H;ENSP00000353504:R112H;ENSP00000390137:R112H;ENSP00000428742:R112H;ENSP00000402257:R160H;ENSP00000430728:R122H;ENSP00000429728:R112H;ENSP00000431094:R149H;ENSP00000427763:R112H;ENSP00000430204:R149H;ENSP00000429940:R112H;ENSP00000429532:R149H	ENSP00000265814:R149H	R	-	2	0	RUNX1T1	93096005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.878000	0.98634	0.650000	0.86243	CGC		0.507	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		12	83	0	0	0	0.00136819	0	12	83					T	93026829	C	T	93026829	3	4	337	1	0	0	0	0	1	0	0	0	13747	768	27	1	1404	1	RUNX1T1	8	93026829	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	5528075	93026829	53337193	29	32834											
CDH17	1015	broad.mit.edu	37	chr8	95182644	95182644	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagtcgttcattctcctgGacctcaaatacggttactgg	8	13	3	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:95182644G>A	ENST00000027335.3	-	9	1171	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V349V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	349	Cadherin 4. {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)			CATTCTCCTGGACCTCAAATA	0.438																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1045-1047)gtC>gtT		cadherin 17, LI cadherin (liver-intestine)							156	144	148					8																	95182644		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95182644G>A	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.1047C>T	8.37:g.95182644G>A						CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V349V	p.V349V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1171	-	Breast(36;4.65e-06)		349			Cadherin 4.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1047C>T	CCDS6260.1																																																																																				0.438	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		60	86	0	0	0	0.00361006	0	60	86					A	95182644	G	A	95182644	2	1	337	1	0	0	0	0	0	0	0	1	3102	1161	41	2		2	CDH17	8	95182644	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	2155815	95182644	51181378	30	32835											
RANBP6	26953	broad.mit.edu	37	chr9	6013101	6013102	+	Frame_Shift_Del	DEL	AG	AG	-													cacattcatcctcatcttgcAgagacatctcaacctgttga					rs201088423		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6013101_6013102delAG	ENST00000259569.5	-	1	2516_2517	c.2506_2507delCT	c.(2506-2508)ctgfs	p.L836fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	836					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCATCTTGCAGAGACATCTCA	0.337																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2506-2508)gfs		RAN binding protein 6																																				SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013101_6013102delAG	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2506_2507delCT	9.37:g.6013103_6013104delAG	ENSP00000259569:p.Leu836fs						p.L836fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2516_2517	-		Acute lymphoblastic leukemia(23;0.158)	836					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2506_2507delCT	CCDS6467.1																																																																																				0.337	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		24	99						24	99	---	---	---	---	-	6013102	AG	-	6013101	7	5	337	1	0	1	0	1	0	0	0	0	13031	188	7	0	814	0	RANBP6	9	6013101	Frame_Shift_Del	DEL	AG	TCGA-HW-7490-01A-11D-2024-08		6013101	135200330	31	32836											
UHRF2	115426	broad.mit.edu	37	chr9	6497275	6497278	+	Frame_Shift_Del	DEL	CAGT	CAGT	-													gaattggagagctggtaagcCagtcagagtgatacgcagtt							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6497275_6497278delCAGT	ENST00000276893.5	+	11	1850_1853	c.1682_1685delCAGT	c.(1681-1686)ccagtcfs	p.PV561fs	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	561	Methyl-CpG binding and interaction with HDAC1.|YDG. {ECO:0000255|PROSITE- ProRule:PRU00358}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GCTGGTAAGCCAGTCAGAGTGATA	0.426																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(1681-1686)ccfs		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6497275_6497278delCAGT	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1682_1685delCAGT	9.37:g.6497275_6497278delCAGT	ENSP00000276893:p.Pro561fs					UHRF2_ENST00000485617.2_3'UTR	p.PV561fs	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	11	1850_1853	+		Acute lymphoblastic leukemia(23;0.158)	561			Methyl-CpG binding and interaction with HDAC1.|YDG.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Frame_Shift_Del	DEL	ENST00000276893.5	37	c.1682_1685delCAGT	CCDS6469.1																																																																																				0.426	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		16	43						16	43	---	---	---	---	-	6497278	CAGT	-	6497275	7	5	337	1	0	1	0	1	0	0	0	0	16967	594	21	0	1724	0	UHRF2	9	6497275	Frame_Shift_Del	DEL	CAGT	TCGA-HW-7490-01A-11D-2024-08	484174	6497275	134716156	32	32837											
FAM78A	286336	broad.mit.edu	37	chr9	134136482	134136482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggtgttggtggccacCagccaggtggtgaagctctg	18	8	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:134136482C>T	ENST00000372271.3	-	2	946	c.579G>A	c.(577-579)ctG>ctA	p.L193L	FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	193										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTGGCCACCAGCCAGGTGG	0.617																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(577-579)ctG>ctA		family with sequence similarity 78, member A							102	92	95					9																	134136482		2203	4300	6503	SO:0001819	synonymous_variant	286336							g.chr9:134136482C>T	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.579G>A	9.37:g.134136482C>T						FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR	p.L193L	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	946	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	193					Q86VQ9|Q9H7P4	Silent	SNP	ENST00000372271.3	37	c.579G>A	CCDS6941.2																																																																																				0.617	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		27	44	0	0	0	0.00127121	0	27	44					T	134136482	C	T	134136482	2	4	337	1	0	0	0	0	0	0	0	1	5626	581	21	2		2	FAM78A	9	134136482	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	127639207	134136482	7076949	33	32838											
KIAA1274	27143	broad.mit.edu	37	chr10	72307126	72307126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaggaggtggacgcagCgctggacactgtcagcgaga	17	8	1	2	rs192719429		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr10:72307126C>T	ENST00000263563.6	+	18	2454	c.2186C>T	c.(2185-2187)gCg>gTg	p.A729V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	729						cytosol (GO:0005829)											GTGGACGCAGCGCTGGACACT	0.617																																						ENST00000263563.6																			0											c.(2185-2187)gCg>gTg		phosphatase domain containing, paladin 1							170	135	147					10																	72307126		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72307126C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2186C>T	10.37:g.72307126C>T	ENSP00000263563:p.Ala729Val						p.A729V	NM_014431.2	NP_055246.2					18	2454	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.2186C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496632	0.44352	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.24723	1.84	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.70595	2.14	0.80722	D	1	B	0.29115	0.233	B	0.21917	0.037	T	0.10590	-1.0623	10	0.16896	T	0.51	-30.019	15.9605	0.79928	0.0:1.0:0.0:0.0	.	729	Q9ULE6	PALD_HUMAN	V	729;705	ENSP00000263563:A729V	ENSP00000263563:A729V	A	+	2	0	KIAA1274	71977132	1.000000	0.71417	0.135000	0.22099	0.561000	0.35649	7.511000	0.81718	2.100000	0.63781	0.551000	0.68910	GCG		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		29	53	0	0	0	0.00127121	0	29	53					T	72307126	C	T	72307126	3	4	337	1	0	0	0	0	1	0	0	0	8220	768	27	1	2252	1	KIAA1274	10	72307126	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		72307126	63227621	34	32839											
NELL1	4745	broad.mit.edu	37	chr11	21135210	21135210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccttcctgggttatatcGctgtgactgtgtcccaggat	10	11	0	1	rs368227389		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:21135210G>A	ENST00000357134.5	+	13	1528	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	NELL1_ENST00000325319.5_Missense_Mutation_p.R402H|NELL1_ENST00000532434.1_Missense_Mutation_p.R459H|NELL1_ENST00000298925.5_Missense_Mutation_p.R487H	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1459-1461)cGc>cAc		NEL-like 1 (chicken)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	350	298	316		1376,1376	5.3	1	11		316	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	NELL1	NM_006157.3,NM_201551.1	29,29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	459/811,459/764	21135210	3,13003	2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21135210G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1376G>A	11.37:g.21135210G>A	ENSP00000349654:p.Arg459His					NELL1_ENST00000357134.5_Missense_Mutation_p.R459H|NELL1_ENST00000532434.1_Missense_Mutation_p.R459H|NELL1_ENST00000325319.5_Missense_Mutation_p.R402H	p.R487H			Q92832	NELL1_HUMAN			14	1613	+			459			EGF-like 3.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1460G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265609	0.59431	0.0	3.49E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.29	5.29	0.74685	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	0.92799	0.7710	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.87578	0.994;0.998;0.975;0.944	D	0.90218	0.4269	10	0.16896	T	0.51	-23.5568	17.1145	0.86685	0.0:0.0:1.0:0.0	.	402;487;459;459	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	H	487;459;402;459	ENSP00000298925:R487H;ENSP00000349654:R459H;ENSP00000317837:R402H;ENSP00000437170:R459H	ENSP00000298925:R487H	R	+	2	0	NELL1	21091786	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.264000	0.78432	2.470000	0.83445	0.591000	0.81541	CGC		0.398	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		6	99	0	0	0	0.00116845	0	6	99					A	21135210	G	A	21135210	3	1	337	1	0	0	0	0	1	0	0	0	10333	1087	38	1	1426	1	NELL1	11	21135210	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		21135210	113871306	35	32840											
OR4A15	81328	broad.mit.edu	37	chr11	55136122	55136122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatattacactctcttaagActcagagtttggaagggaaa	8	7	3	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55136122A>T	ENST00000314706.3	+	1	763	c.763A>T	c.(763-765)Act>Tct	p.T255S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	255						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(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCTCTTAAGACTCAGAGTTT	0.438																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(763-765)Act>Tct		olfactory receptor, family 4, subfamily A, member 15							160	141	147					11																	55136122		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136122A>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.763A>T	11.37:g.55136122A>T	ENSP00000325065:p.Thr255Ser						p.T255S	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	763	+			255					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.763A>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	10.96	1.499961	0.26861	.	.	ENSG00000181958	ENST00000314706	T	0.00123	8.7	3.65	-2.34	0.06704	GPCR, rhodopsin-like superfamily (1);	1.952780	0.02747	N	0.116995	T	0.00073	0.0002	N	0.04335	-0.225	0.09310	N	1	B	0.13594	0.008	B	0.21360	0.034	T	0.11518	-1.0584	10	0.15952	T	0.53	.	2.8404	0.05527	0.4809:0.0:0.2032:0.3159	.	255	Q8NGL6	O4A15_HUMAN	S	255	ENSP00000325065:T255S	ENSP00000325065:T255S	T	+	1	0	OR4A15	54892698	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-0.696000	0.05104	-0.233000	0.09797	-0.510000	0.04470	ACT		0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		62	74	0	0	0	0.00361006	0	62	74					T	55136122	A	T	55136122	3	4	337	1	0	0	0	0	1	0	0	0	11040	275	10	5	765	5	OR4A15	11	55136122	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	34000912	55136122	79870394	36	32841											
OR5D16	390144	broad.mit.edu	37	chr11	55606760	55606760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcaacacaatcaatcAtttcttctgtgagttatcct	5	9	5	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55606760A>G	ENST00000378396.1	+	1	533	c.533A>G	c.(532-534)cAt>cGt	p.H178R		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	178						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)				ACAATCAATCATTTCTTCTGT	0.423																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(532-534)cAt>cGt		olfactory receptor, family 5, subfamily D, member 16							183	162	169					11																	55606760		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606760A>G	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.533A>G	11.37:g.55606760A>G	ENSP00000367649:p.His178Arg						p.H178R	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	533	+		all_epithelial(135;0.208)	178					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.533A>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	18.09	3.547145	0.65311	.	.	ENSG00000205029	ENST00000378396	T	0.00174	8.62	3.86	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00695	0.0023	M	0.92691	3.335	0.31042	N	0.716242	D	0.61080	0.989	D	0.67382	0.951	T	0.03761	-1.1006	9	0.87932	D	0	-35.1331	11.9415	0.52903	1.0:0.0:0.0:0.0	.	178	Q8NGK9	OR5DG_HUMAN	R	178	ENSP00000367649:H178R	ENSP00000367649:H178R	H	+	2	0	OR5D16	55363336	0.707000	0.27866	0.581000	0.28614	0.790000	0.44656	4.644000	0.61397	1.556000	0.49512	0.433000	0.28618	CAT		0.423	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		5	52	0	0	0	0.000602214	0	5	52					G	55606760	A	G	55606760	3	3	337	1	0	0	0	0	1	0	0	0	11156	217	8	3	535	3	OR5D16	11	55606760	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	470638	55606760	79399756	37	32842											
NPAS4	266743	broad.mit.edu	37	chr11	66192121	66192121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggtaatggggactgcaCgctcttggccctagcccagc	12	15	1	0	rs142965018	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:66192121C>T	ENST00000311034.2	+	7	1936	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	587					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						GGGGACTGCACGCTCTTGGCC	0.607													C|||	10	0.00199681	0.0068	0.0014	5008	,	,		18611	0.0		0.0	False		,,,				2504	0.0					ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1759-1761)aCg>aTg		neuronal PAS domain protein 4		C	MET/THR	42,4358	45.3+/-79.5	0,42,2158	79	87	84		1760	4.7	1	11	dbSNP_134	84	2,8588	2.2+/-6.3	0,2,4293	yes	missense	NPAS4	NM_178864.3	81	0,44,6451	TT,TC,CC		0.0233,0.9545,0.3387	probably-damaging	587/803	66192121	44,12946	2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192121C>T	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.1760C>T	11.37:g.66192121C>T	ENSP00000311196:p.Thr587Met						p.T587M	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1936	+			587					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1760C>T	CCDS8138.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	16.34	3.096845	0.56075	0.009545	2.33E-4	ENSG00000174576	ENST00000311034	T	0.56611	0.45	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000022	T	0.50956	0.1646	N	0.24115	0.695	0.50039	D	0.999849	D	0.89917	1.0	D	0.80764	0.994	T	0.60826	-0.7186	10	0.59425	D	0.04	-6.0706	15.1587	0.72764	0.0:1.0:0.0:0.0	.	587	Q8IUM7	NPAS4_HUMAN	M	587	ENSP00000311196:T587M	ENSP00000311196:T587M	T	+	2	0	NPAS4	65948697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.516000	0.73755	2.443000	0.82685	0.655000	0.94253	ACG		0.607	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		15	173	0	0	0	0.00316338	0	15	173					T	66192121	C	T	66192121	3	4	337	1	0	0	0	0	1	0	0	0	10565	536	19	1	1786	1	NPAS4	11	66192121	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10585361	66192121	68814395	38	32843											
MMP1	4312	broad.mit.edu	37	chr11	102666337	102666337	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacacgatgtaagttgtaCtctaaaaaggccaataaatc	7	8	1	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:102666337C>T	ENST00000315274.6	-	5	694	c.627G>A	c.(625-627)gaG>gaA	p.E209E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	209	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GTAAGTTGTACTCTAAAAAGG	0.368																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.e5-1		matrix metallopeptidase 1 (interstitial collagenase)							49	44	46					11																	102666337		2203	4299	6502	SO:0001630	splice_region_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102666337C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.626-1G>A	11.37:g.102666337C>T						WTAPP1_ENST00000525739.2_RNA	p.E209_splice	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	5	694	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	209			Metalloprotease.		P08156	Splice_Site	SNP	ENST00000315274.6	37	c.625_splice	CCDS8322.1																																																																																				0.368	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	Silent	11	29	0	0	0	0.000673444	0	11	29					T	102666337	C	T	102666337	5	4	337	1	0	0	0	0	0	0	1	0	9648	579	20	2	806	2	MMP1	11	102666337	Splice_Site	SNP	C	TCGA-HW-7490-01A-11D-2024-08	36474216	102666337	32340179	39	32844											
ZNF259	8882	broad.mit.edu	37	chr11	116656309	116656309	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatctttctgaggagcaTgtgggttttccacaaaactg	9	9	3	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:116656309T>C	ENST00000227322.3	-	6	685	c.626A>G	c.(625-627)cAt>cGt	p.H209R		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		209					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGAGGAGCATGTGGGTTTTC	0.458																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(625-627)cAt>cGt		zinc finger protein 259							122	102	108					11																	116656309		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116656309T>C																												ENST00000227322.3:c.626A>G	11.37:g.116656309T>C	ENSP00000227322:p.His209Arg						p.H209R	NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	6	685	-	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)	209					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.626A>G	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.820|9.820	1.185567|1.185567	0.21870|0.21870	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000444935	T|.	0.40225|.	1.04|.	5.5|5.5	4.34|4.34	0.51931|0.51931	Zinc finger, ZPR1-type (1);|.	0.667607|.	0.16542|.	N|.	0.209900|.	T|T	0.42200|0.42200	0.1192|0.1192	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.38023|0.38023	-0.9680|-0.9680	10|5	0.25106|.	T|.	0.35|.	-1.4888|-1.4888	4.4472|4.4472	0.11604|0.11604	0.2969:0.1163:0.0:0.5869|0.2969:0.1163:0.0:0.5869	.|.	158;209|.	B4DVT8;O75312|.	.;ZPR1_HUMAN|.	R|V	209|209	ENSP00000227322:H209R|.	ENSP00000227322:H209R|.	H|M	-|-	2|1	0|0	ZNF259|ZNF259	116161519|116161519	0.000000|0.000000	0.05858|0.05858	0.949000|0.949000	0.38748|0.38748	0.997000|0.997000	0.91878|0.91878	0.126000|0.126000	0.15769|0.15769	0.960000|0.960000	0.38005|0.38005	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.458	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			6	97	0	0	0	0.00116845	0	6	97					C	116656309	T	C	116656309	3	2	337	1	0	0	0	0	1	0	0	0	17798	1464	51	3	789	3	ZNF259	11	116656309	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	13989972	116656309	18350207	40	32845											
GRIN2B	2904	broad.mit.edu	37	chr12	13716801	13716801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtagcccttccttgtccCtgaagtagcgcttgtggtca	10	14	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:13716801C>T	ENST00000609686.1	-	13	3580	c.3371G>A	c.(3370-3372)aGg>aAg	p.R1124K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1124					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|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 membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCCTTGTCCCTGAAGTAGCG	0.617																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3370-3372)aGg>aAg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						84	79	80					12																	13716801		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716801C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3371G>A	12.37:g.13716801C>T	ENSP00000477455:p.Arg1124Lys						p.R1124K	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3580	-			1124					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3371G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672512	0.14776	.	.	ENSG00000150086	ENST00000279593	T	0.12465	2.68	5.34	5.34	0.76211	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.21448	0.665	0.58432	D	0.999998	B	0.14012	0.009	B	0.21360	0.034	T	0.07597	-1.0764	10	0.02654	T	1	.	19.0724	0.93145	0.0:1.0:0.0:0.0	.	1124	Q13224	NMDE2_HUMAN	K	1124	ENSP00000279593:R1124K	ENSP00000279593:R1124K	R	-	2	0	GRIN2B	13608068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.672000	0.68102	2.492000	0.84095	0.655000	0.94253	AGG		0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			20	25	0	0	0	0.00152264	0	20	25					T	13716801	C	T	13716801	3	4	337	1	0	0	0	0	1	0	0	0	6780	681	24	2	1087	2	GRIN2B	12	13716801	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		13716801	120135094	41	32846											
KRT84	3890	broad.mit.edu	37	chr12	52777394	52777394	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttcttgaagccctctagGacatcctgcaggtggttcct	9	12	3	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:52777394G>A	ENST00000257951.3	-	2	801	c.735C>T	c.(733-735)gtC>gtT	p.V245V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCTAGGACATCCTGCA	0.577																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(733-735)gtC>gtT		keratin 84							58	55	56					12																	52777394		2203	4300	6503	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52777394G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.735C>T	12.37:g.52777394G>A						RP3-416H24.4_ENST00000547174.1_RNA	p.V245V	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	801	-	all_hematologic(5;0.12)		245			Coil 1B.|Rod.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.735C>T	CCDS8825.1																																																																																				0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		15	17	0	0	0	0.00074312	0	15	17					A	52777394	G	A	52777394	2	1	337	1	0	0	0	0	0	0	0	1	8498	1161	41	2		2	KRT84	12	52777394	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	39060593	52777394	81074501	42	32847											
ACAD10	80724	broad.mit.edu	37	chr12	112193513	112193513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgattaaaatggtcgccccGtccatggcctcccgagtgat	10	12	0	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:112193513G>A	ENST00000313698.4	+	20	3158	c.3003G>A	c.(3001-3003)ccG>ccA	p.P1001P	ACAD10_ENST00000455480.2_Silent_p.P1032P|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.R23H	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1001						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGTCGCCCCGTCCATGGCCT	0.517																																						ENST00000546840.2																			0											c.(67-69)cGt>cAt									128	125	126					12																	112193513		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr12:112193513G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.3003G>A	12.37:g.112193513G>A						ACAD10_ENST00000455480.2_Silent_p.P1032P|ACAD10_ENST00000313698.4_Silent_p.P1001P	p.R23H							2	68	+								G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.68G>A	CCDS31903.1																																																																																				0.517	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		16	112	0	0	0	0.00074312	0	16	112					A	112193513	G	A	112193513	2	1	337	1	0	0	0	0	0	0	0	1	108	1132	40	1		1	ACAD10	12	112193513	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	59416119	112193513	21658382	43	32848											
FRY	10129	broad.mit.edu	37	chr13	32852686	32852686	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggggactccgaagaaaagGtaataaaagcctgttagaat	11	6	0	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:32852686G>C	ENST00000380250.3	+	58	8965		c.e58+1		FRY_ENST00000542859.1_Splice_Site	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)							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)		CGAAGAAAAGGTAATAAAAGC	0.443																																						ENST00000380250.3																			0				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						c.e58+1		furry homolog (Drosophila)							125	126	126					13																	32852686		1845	4094	5939	SO:0001630	splice_region_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32852686G>C	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.8469+1G>C	13.37:g.32852686G>C						FRY_ENST00000542859.1_Splice_Site		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		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)	58	8965	+		Lung SC(185;0.0271)						Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37		CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752619	0.89753	.	.	ENSG00000073910	ENST00000380250;ENST00000542859	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRY	31750686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.029000	0.93718	2.885000	0.99019	0.655000	0.94253	.		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	Intron	16	95	0	0	0	0.000566183	0	16	95					C	32852686	G	C	32852686	5	2	337	1	0	0	0	0	0	0	1	0	6063	1275	44	4	8700	4	FRY	13	32852686	Splice_Site	SNP	G	TCGA-HW-7490-01A-11D-2024-08		32852686	82317192	44	32849											
GPX2	2877	broad.mit.edu	37	chr14	65406296	65406296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggaagggctctccctcCggccctatgaggaacttctc	11	15	2	1	rs17885748	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:65406296C>T	ENST00000389614.5	-	2	569	c.483G>A	c.(481-483)ccG>ccA	p.P161P	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	161					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTCTCCCTCCGGCCCTATGA	0.537													C|||	8	0.00159744	0.0023	0.0014	5008	,	,		19882	0.0		0.0	False		,,,				2504	0.0041					ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(481-483)ccG>ccA		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)	C	,,	15,3925		0,15,1955	115	113	114		,,483	-12.1	0.1	14	dbSNP_124	114	1,8309		0,1,4154	no	intron,intron,coding-synonymous	GPX2,CHURC1-FNTB	NM_001202558.1,NM_001202559.1,NM_002083.2	,,	0,16,6109	TT,TC,CC		0.012,0.3807,0.1306	,,	,,161/191	65406296	16,12234	1970	4155	6125	SO:0001819	synonymous_variant	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406296C>T		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.483G>A	14.37:g.65406296C>T						CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	p.P161P	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	569	-			161					Q6PJ52|Q8WWI7|Q9NRP9	Silent	SNP	ENST00000389614.5	37	c.483G>A	CCDS41964.1																																																																																				0.537	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			22	103	0	0	0	0.00229938	0	22	103					T	65406296	C	T	65406296	2	4	337	1	0	0	0	0	0	0	0	1	6740	639	23	1		1	GPX2	14	65406296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		65406296	41943244	45	32850											
RAB27A	5873	broad.mit.edu	37	chr15	55497820	55497820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccacacaccgttccattCgcttcattatcaggtccaga	6	14	2	1	rs141362723		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:55497820C>T	ENST00000396307.2	-	6	802	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RAB27A_ENST00000569493.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000336787.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000564609.1_Missense_Mutation_p.R184Q	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	184					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCGTTCCATTCGCTTCATTAT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		19080	0.0		0.001	False		,,,				2504	0.0					ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(550-552)cGa>cAa		RAB27A, member RAS oncogene family		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4386		0,0,2193	342	273	296		551,551,551,551	5.5	1	15	dbSNP_134	296	2,8582	2.2+/-6.3	0,2,4290	no	missense,missense,missense,missense	RAB27A	NM_004580.4,NM_183234.2,NM_183235.2,NM_183236.2	43,43,43,43	0,2,6483	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	184/222,184/222,184/222,184/222	55497820	2,12968	2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497820C>T	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.551G>A	15.37:g.55497820C>T	ENSP00000379601:p.Arg184Gln					RAB27A_ENST00000564609.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000569493.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000336787.1_Missense_Mutation_p.R184Q	p.R184Q	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	802	-			184					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.551G>A	CCDS10153.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.7	4.855189	0.91355	0.0	2.33E-4	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.74106	-0.81;-0.81	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	N	0.08118	0	0.80722	D	1	D	0.53151	0.958	B	0.31101	0.124	T	0.66424	-0.5927	10	0.87932	D	0	-2.7882	18.3593	0.90370	0.0:1.0:0.0:0.0	.	184	P51159	RB27A_HUMAN	Q	184;176;184	ENSP00000379601:R184Q;ENSP00000337761:R184Q	ENSP00000337761:R184Q	R	-	2	0	RAB27A	53285112	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.726000	0.84824	2.585000	0.87301	0.655000	0.94253	CGA		0.463	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		63	77	0	0	0	0.00361006	0	63	77					T	55497820	C	T	55497820	3	4	337	1	0	0	0	0	1	0	0	0	12914	884	31	1	118	1	RAB27A	15	55497820	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		55497820	47033572	46	32851											
BTBD1	53339	broad.mit.edu	37	chr15	83718894	83718895	+	Frame_Shift_Del	DEL	AA	AA	-													tttgtctattgtatctagacAaagactagcaagctgaggtt							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:83718894_83718895delAA	ENST00000261721.4	-	3	796_797	c.594_595delTT	c.(592-597)ctttgtfs	p.C199fs	BTBD1_ENST00000379403.2_Frame_Shift_Del_p.C199fs|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	199					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATCTAGACAAAGACTAGCAA	0.312																																						ENST00000261721.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(592-597)ctgtfs		BTB (POZ) domain containing 1																																				SO:0001589	frameshift_variant	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83718894_83718895delAA	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.594_595delTT	15.37:g.83718894_83718895delAA	ENSP00000261721:p.Cys199fs					RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Frame_Shift_Del_p.LC198fs	p.LC198fs	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	3	796_797	-			198					A6NMI8|Q9BX71|Q9NWN4	Frame_Shift_Del	DEL	ENST00000261721.4	37	c.594_595delTT	CCDS10322.1																																																																																				0.312	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			9	51						9	51	---	---	---	---	-	83718895	AA	-	83718894	7	5	337	1	0	1	0	1	0	0	0	0	1537	130	5	0	877	0	BTBD1	15	83718894	Frame_Shift_Del	DEL	AA	TCGA-HW-7490-01A-11D-2024-08	28221074	83718894	18812498	47	32852											
HSDL1	83693	broad.mit.edu	37	chr16	84163854	84163854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcagggcttctcgaattgGaaggtagatctcacgaccgc	11	11	3	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:84163854G>A	ENST00000219439.4	-	4	579	c.403C>T	c.(403-405)Cca>Tca	p.P135S	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	135						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCTCGAATTGGAAGGTAGATC	0.473																																						ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(403-405)Cca>Tca		hydroxysteroid dehydrogenase like 1							147	134	138					16																	84163854		2200	4300	6500	SO:0001583	missense	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163854G>A	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.403C>T	16.37:g.84163854G>A	ENSP00000219439:p.Pro135Ser					HSDL1_ENST00000434463.3_Intron	p.P135S	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			4	579	-			135					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	c.403C>T	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	6.722	0.501902	0.12822	.	.	ENSG00000103160	ENST00000219439	D	0.87103	-2.21	5.25	4.28	0.50868	NAD(P)-binding domain (1);	0.305548	0.41097	D	0.000951	T	0.73369	0.3578	N	0.17838	0.53	0.26225	N	0.979109	B	0.09022	0.002	B	0.16722	0.016	T	0.55854	-0.8075	10	0.11485	T	0.65	.	6.162	0.20370	0.0752:0.1448:0.6473:0.1328	.	135	Q3SXM5	HSDL1_HUMAN	S	135	ENSP00000219439:P135S	ENSP00000219439:P135S	P	-	1	0	HSDL1	82721355	0.977000	0.34250	0.009000	0.14445	0.136000	0.21042	2.001000	0.40825	1.322000	0.45245	0.655000	0.94253	CCA		0.473	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		16	141	0	0	0	0.00400662	0	16	141					A	84163854	G	A	84163854	3	1	337	1	0	0	0	0	1	0	0	0	7393	1174	41	2	601	2	HSDL1	16	84163854	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		84163854	6190899	48	32853											
APRT	353	broad.mit.edu	37	chr16	88876924	88876924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagtccaagctcctgGgccagggaggggccaaagag	15	13	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000426324.2_Silent_p.A76A|APRT_ENST00000563655.1_Intron	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					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)	CAAGCTCCTGGGCCAGGGAGG	0.637																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(226-228)gcC>gcT		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						19	21	21					16																	88876924		2195	4293	6488	SO:0001819	synonymous_variant	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88876924G>A		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.228C>T	16.37:g.88876924G>A						APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A	p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	272	-			76					G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	c.228C>T	CCDS32511.1																																																																																				0.637	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		3	22	0	0	0	6.4e-05	0	3	22					A	88876924	G	A	88876924	2	1	337	1	0	0	0	0	0	0	0	1	819	1219	43	2		2	APRT	16	88876924	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	4713070	88876924	1477829	49	32854											
PHF23	79142	broad.mit.edu	37	chr17	7139547	7139547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaggcccaggaggTgggagtctatccccccgttc	16	13	1	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7139547T>C	ENST00000320316.3	-	4	925	c.699A>G	c.(697-699)ccA>ccG	p.P233P	PHF23_ENST00000571362.1_Silent_p.P166P|DVL2_ENST00000575458.1_5'Flank|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_Silent_p.P103P|PHF23_ENST00000454255.2_Silent_p.P229P|PHF23_ENST00000570753.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	233							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCCAGGAGGTGGGAGTCTAT	0.552																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(697-699)ccA>ccG		PHD finger protein 23							100	113	109					17																	7139547		1928	4123	6051	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139547T>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.699A>G	17.37:g.7139547T>C						PHF23_ENST00000576955.1_Silent_p.P103P|PHF23_ENST00000571362.1_Silent_p.P166P|PHF23_ENST00000454255.2_Silent_p.P229P	p.P233P	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	925	-			233					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.699A>G	CCDS42250.1																																																																																				0.552	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		39	76	0	0	0	0.0025221	0	39	76					C	7139547	T	C	7139547	2	2	337	1	0	0	0	0	0	0	0	1	11835	1683	59	3		3	PHF23	17	7139547	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		7139547	74055663	50	32855											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	3	0	0	0	0.00127121	0	27	3					T	7577120	C	T	7577120	3	4	337	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	437573	7577120	73618090	51	32856											
MYO18A	399687	broad.mit.edu	37	chr17	27430667	27430667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccagatccaagcactccaGcagctcctccactgcctgtg	7	18	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:27430667G>C	ENST00000527372.1	-	21	3637	c.3457C>G	c.(3457-3459)Ctg>Gtg	p.L1153V	MYO18A_ENST00000533112.1_Missense_Mutation_p.L1153V|MYO18A_ENST00000354329.4_Missense_Mutation_p.L1153V|MYO18A_ENST00000531253.1_Missense_Mutation_p.L1153V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1153	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)			AAGCACTCCAGCAGCTCCTCC	0.667																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(3457-3459)Ctg>Gtg		myosin XVIIIA							41	46	44					17																	27430667		2067	4207	6274	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27430667G>C	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.3457C>G	17.37:g.27430667G>C	ENSP00000437073:p.Leu1153Val					MYO18A_ENST00000354329.4_Missense_Mutation_p.L1153V|MYO18A_ENST00000533112.1_Missense_Mutation_p.L1153V|MYO18A_ENST00000531253.1_Missense_Mutation_p.L1153V	p.L1153V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		21	3637	-			1153			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3457C>G	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823792	0.71143	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	5.44	5.44	0.79542	Myosin head, motor domain (2);	0.158193	0.45606	D	0.000353	D	0.91841	0.7418	L	0.58969	1.84	0.40707	D	0.98253	P;P;P;P;D	0.54047	0.918;0.775;0.86;0.86;0.964	P;B;P;B;P	0.55577	0.628;0.266;0.453;0.359;0.779	D	0.92386	0.5917	10	0.87932	D	0	.	10.3036	0.43667	0.0894:0.0:0.9106:0.0	.	822;765;1153;1153;1153	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	V	1153;1153;1153;1153;1153;49;49;765	ENSP00000346291:L1153V;ENSP00000435932:L1153V;ENSP00000434228:L1153V;ENSP00000437073:L1153V	ENSP00000346291:L1153V	L	-	1	2	MYO18A	24454793	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.218000	0.51192	2.541000	0.85698	0.561000	0.74099	CTG		0.667	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	44	0	0	0	6.4e-05	0	3	44					C	27430667	G	C	27430667	3	2	337	1	0	0	0	0	1	0	0	0	10065	962	34	4	2795	4	MYO18A	17	27430667	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	19853547	27430667	53764543	52	32857											
KIF2B	84643	broad.mit.edu	37	chr17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcagcgggaaaagcGcaggcggctgcagcaggaga	19	9	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					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 nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(487-489)cGc>cAc		kinesin family member 2B							56	60	59					17																	51900882		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900882G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.488G>A	17.37:g.51900882G>A	ENSP00000268919:p.Arg163His						p.R163H	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	644	+			163					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.488G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047774	0.75846	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.79352	-1.26	5.52	5.52	0.82312	.	0.140402	0.29152	N	0.012982	T	0.81054	0.4743	L	0.58810	1.83	0.40800	D	0.983339	D	0.64830	0.994	P	0.53062	0.717	T	0.82950	-0.0203	10	0.66056	D	0.02	.	12.7587	0.57350	0.0801:0.0:0.9198:0.0	.	163	Q8N4N8	KIF2B_HUMAN	H	163;86	ENSP00000268919:R163H	ENSP00000268919:R163H	R	+	2	0	KIF2B	49255881	0.630000	0.27155	0.995000	0.50966	0.815000	0.46073	3.824000	0.55723	2.739000	0.93911	0.655000	0.94253	CGC		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		8	85	0	0	0	0.000442599	0	8	85					A	51900882	G	A	51900882	3	1	337	1	0	0	0	0	1	0	0	0	8298	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	24470215	51900882	29294328	53	32858											
AKAP8	10270	broad.mit.edu	37	chr19	15471767	15471769	+	In_Frame_Del	DEL	GAA	GAA	-													tgagcagcctcgatcttcttGaagaagtgctcctggccaat							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:15471767_15471769delGAA	ENST00000269701.2	-	12	1477_1479	c.1417_1419delTTC	c.(1417-1419)ttcdel	p.F473del		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	473					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGATCTTCTTGAAGAAGTGCTCC	0.571																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1417-1419)del		A kinase (PRKA) anchor protein 8																																				SO:0001651	inframe_deletion	10270				signal transduction	nuclear matrix		g.chr19:15471767_15471769delGAA	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1417_1419delTTC	19.37:g.15471770_15471772delGAA	ENSP00000269701:p.Phe473del						p.F473del	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			12	1477_1479	-			473						In_Frame_Del	DEL	ENST00000269701.2	37	c.1417_1419delTTC	CCDS12329.1																																																																																				0.571	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		10	21						10	21	---	---	---	---	-	15471769	GAA	-	15471767	7	5	337	1	0	1	0	1	0	0	0	0	457	1281	45	0	671	0	AKAP8	19	15471767	In_Frame_Del	DEL	GAA	TCGA-HW-7490-01A-11D-2024-08		15471767	43657216	54	32859											
CEACAM4	1089	broad.mit.edu	37	chr19	42128032	42128032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagctgcggtaccttccagtCctggagagaagcagaaaaca	11	10	0	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:42128032C>A	ENST00000221954.2	-	3	644	c.534G>T	c.(532-534)agG>agT	p.R178S	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R178S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	178						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ACCTTCCAGTCCTGGAGAGAA	0.652																																						ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(532-534)agG>agT		carcinoembryonic antigen-related cell adhesion molecule 4							59	53	55					19																	42128032		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42128032C>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.534G>T	19.37:g.42128032C>A	ENSP00000221954:p.Arg178Ser					CEACAM4_ENST00000600925.1_Missense_Mutation_p.R178S	p.R178S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			3	644	-			178					Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.534G>T	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224110	0.22457	.	.	ENSG00000105352	ENST00000221954	T	0.01804	4.63	3.27	1.04	0.20106	.	.	.	.	.	T	0.02193	0.0068	M	0.73598	2.24	0.09310	N	1	P;P	0.41232	0.743;0.743	B;B	0.32393	0.145;0.145	T	0.44667	-0.9313	9	0.27785	T	0.31	.	5.6519	0.17620	0.0:0.7212:0.0:0.2788	.	178;178	E7EMX3;O75871	.;CEAM4_HUMAN	S	178	ENSP00000221954:R178S	ENSP00000221954:R178S	R	-	3	2	CEACAM4	46819872	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.214000	0.17541	0.076000	0.16826	0.436000	0.28706	AGG		0.652	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		7	27	1	0	0.00307968	0.00307968	0.0090969	7	27					A	42128032	C	A	42128032	3	1	337	1	0	0	0	0	1	0	0	0	3194	854	30	4	220	4	CEACAM4	19	42128032	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	26656265	42128032	17000951	55	32860											
LENG9	94059	broad.mit.edu	37	chr19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	TG	-													ggtgcagctgccctggagacTgtagtgtactcagcccctcg							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:54973460_54973461delTG	ENST00000333834.4	-	1	1433_1434	c.1315_1316delCA	c.(1315-1317)cagfs	p.Q439fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	439							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCTGGAGACTGTAGTGTACTC	0.644																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(1315-1317)gfs		leukocyte receptor cluster (LRC) member 9																																				SO:0001589	frameshift_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973460_54973461delTG	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1315_1316delCA	19.37:g.54973460_54973461delTG	ENSP00000331647:p.Gln439fs						p.Q439fs	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1433_1434	-	Ovarian(34;0.19)		439					B2VAM3	Frame_Shift_Del	DEL	ENST00000333834.4	37	c.1315_1316delCA	CCDS12895.2																																																																																				0.644	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		44	54						44	54	---	---	---	---	-	54973461	TG	-	54973460	7	5	337	1	0	1	0	1	0	0	0	0	8725	1580	55	0	193	0	LENG9	19	54973460	Frame_Shift_Del	DEL	TG	TCGA-HW-7490-01A-11D-2024-08	12845428	54973460	4155523	56	32861											
EPB41L1	2036	broad.mit.edu	37	chr20	34761743	34761745	+	In_Frame_Del	DEL	AGG	AGG	-													ctctgaggtgaagaaagctcAggaggaggccccgcagcagc							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:34761743_34761745delAGG	ENST00000338074.2	+	2	205_207	c.44_46delAGG	c.(43-48)caggag>cag	p.E17del	EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373941.1_In_Frame_Del_p.E17del|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	17					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGAAAGCTCAGGAGGAGGCCCC	0.626																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(43-48)cag>c		erythrocyte membrane protein band 4.1-like 1																																				SO:0001651	inframe_deletion	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34761743_34761745delAGG	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.44_46delAGG	20.37:g.34761749_34761751delAGG	ENSP00000337168:p.Glu17del					EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_In_Frame_Del_p.QE15del|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Intron	p.QE15del	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			2	205_207	+	Breast(12;0.0239)		15					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	In_Frame_Del	DEL	ENST00000338074.2	37	c.44_46delAGG	CCDS13271.1																																																																																				0.626	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		7	38						7	38	---	---	---	---	-	34761745	AGG	-	34761743	7	5	337	1	0	1	0	1	0	0	0	0	5152	188	7	0	46	0	EPB41L1	20	34761743	In_Frame_Del	DEL	AGG	TCGA-HW-7490-01A-11D-2024-08		34761743	28263777	57	32862											
USP9X	8239	broad.mit.edu	37	chrX	41088882	41088884	+	In_Frame_Del	DEL	AAG	AAG	-													tggcttggagatgaacttgaAagaagaccatatactggcaa							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:41088882_41088884delAAG	ENST00000324545.8	+	43	7914_7916	c.7281_7283delAAG	c.(7279-7284)gaaaga>gaa	p.R2429del	USP9X_ENST00000378308.2_In_Frame_Del_p.R2429del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2429					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						ATGAACTTGAAAGAAGACCATAT	0.404																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				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						c.(7279-7284)gaa>ga		ubiquitin specific peptidase 9, X-linked																																				SO:0001651	inframe_deletion	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41088882_41088884delAAG	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.7281_7283delAAG	X.37:g.41088885_41088887delAAG	ENSP00000316357:p.Arg2429del					USP9X_ENST00000378308.2_In_Frame_Del_p.ER2427del	p.ER2427del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			43	7914_7916	+			2427					O75550|Q8WWT3|Q8WX12	In_Frame_Del	DEL	ENST00000324545.8	37	c.7281_7283delAAG	CCDS43930.1																																																																																				0.404	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		15	35						15	35	---	---	---	---	-	41088884	AAG	-	41088882	7	5	337	1	0	1	0	1	0	0	0	0	17087	11	1	0	7447	0	USP9X	23	41088882	In_Frame_Del	DEL	AAG	TCGA-HW-7490-01A-11D-2024-08		41088882	114181678	58	32863											
ATRX	546	broad.mit.edu	37	chrX	76918976	76918977	+	Frame_Shift_Del	DEL	TA	TA	-													caatttgtgccgcaaaagccTatgtctgtatcttggcttct							TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:76918976_76918977delTA	ENST00000373344.5	-	12	4228_4229	c.4014_4015delTA	c.(4012-4017)cataggfs	p.HR1338fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.HR1300fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1338					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						CGCAAAAGCCTATGTCTGTATC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4012-4017)caggfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918976_76918977delTA	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.4014_4015delTA	X.37:g.76918976_76918977delTA	ENSP00000362441:p.His1338fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HR1300fs	p.HR1338fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4228_4229	-			1338					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4014_4015delTA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		21	5						21	5	---	---	---	---	-	76918977	TA	-	76918976	7	5	337	1	0	1	0	1	0	0	0	0	1208	1521	53	0	3559	0	ATRX	23	76918976	Frame_Shift_Del	DEL	TA	TCGA-HW-7490-01A-11D-2024-08	35830094	76918976	78351584	59	32864											
LAMP2	3920	broad.mit.edu	37	chrX	119573053	119573053	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttttcttctgccaattaCgtaagcaatcactataacga	4	10	3	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:119573053C>T	ENST00000200639.4	-	8	1230				LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I|LAMP2_ENST00000371335.4_Missense_Mutation_p.V397I			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.V397I(1)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGCCAATTACGTAAGCAATC	0.383																																						ENST00000371335.4																			1	Substitution - Missense(1)	p.V397I(1)	ovary(1)	endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1189-1191)Gta>Ata		lysosomal-associated membrane protein 2							154	131	139					X																	119573053		2203	4300	6503	SO:0001627	intron_variant	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119573053C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1093+2531G>A	X.37:g.119573053C>T						LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I	p.V397I	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			9	1325	-			397					A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1189G>A	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685780	0.29962	.	.	ENSG00000005893	ENST00000371335;ENST00000540603	T;T	0.32753	1.44;1.44	5.53	2.49	0.30216	.	.	.	.	.	T	0.10723	0.0262	N	0.02539	-0.55	0.20638	N	0.999874	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.22277	-1.0221	9	0.28530	T	0.3	.	3.5099	0.07704	0.0918:0.1212:0.5058:0.2812	.	350;397	B4E2S7;P13473-2	.;.	I	397;350	ENSP00000360386:V397I;ENSP00000440479:V350I	ENSP00000360386:V397I	V	-	1	0	LAMP2	119457081	0.984000	0.35163	1.000000	0.80357	0.993000	0.82548	0.188000	0.17018	1.113000	0.41760	-0.279000	0.10071	GTA		0.383	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			5	57	0	0	0	0.000602214	0	5	57					T	119573053	C	T	119573053	1	4	337	0	1	0	0	0	0	0	0	0	8618	536	19	1		1	LAMP2	23	119573053	Intron	SNP	C	TCGA-HW-7490-01A-11D-2024-08	42654077	119573053	35697507	60	32865											
FRMD7	90167	broad.mit.edu	37	chrX	131214037	131214037	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttcagaaaccttacttgTtttgacacatcagagaggag	8	7	2	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:131214037T>C	ENST00000298542.4	-	11	1222	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	FRMD7_ENST00000370879.1_Silent_p.K229K|FRMD7_ENST00000464296.1_Silent_p.K334K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	349					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTACTTGTTTTGACACAT	0.398																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1045-1047)aaA>aaG		FERM domain containing 7							143	140	141					X																	131214037		2203	4300	6503	SO:0001819	synonymous_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131214037T>C	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1047A>G	X.37:g.131214037T>C						FRMD7_ENST00000464296.1_Silent_p.K334K|FRMD7_ENST00000370879.1_Silent_p.K229K	p.K349K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			11	1222	-	Acute lymphoblastic leukemia(192;0.000127)		349					C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	c.1047A>G	CCDS35397.1																																																																																				0.398	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		78	27	0	0	0	0.00361006	0	78	27					C	131214037	T	C	131214037	2	2	337	1	0	0	0	0	0	0	0	1	6055	1722	60	3		3	FRMD7	23	131214037	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	11640984	131214037	24056523	61	32866											
RPS4Y2	140032	broad.mit.edu	37	chrY	22930744	22930744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggacaaagggaattccacaCctggtgactcatgatgctcg	12	10	1	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrY:22930744C>A	ENST00000288666.5	+	5	414	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	138					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(2)	2						GAATTCCACACCTGGTGACTC	0.438																																						ENST00000288666.5																			0				lung(2)	2						c.(412-414)caC>caA		ribosomal protein S4, Y-linked 2																																				SO:0001583	missense	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22930744C>A	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"S ribosomal proteins"	18501	protein-coding gene	gene with protein product		400030	"ribosomal protein S4, Y-linked 2 pseudogene"	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.414C>A	Y.37:g.22930744C>A	ENSP00000288666:p.His138Gln						p.H138Q	NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN			5	414	+			138					A6NIR6	Missense_Mutation	SNP	ENST00000288666.5	37	c.414C>A	CCDS44028.1	.	.	.	.	.	.	.	.	.	.	.	2.830	-0.242748	0.05906	.	.	ENSG00000157828	ENST00000288666	D	0.87729	-2.29	1.47	-1.91	0.07641	Ribosomal protein S4e, central (2);	0.000000	0.64402	U	0.000001	T	0.63105	0.2483	L	0.45744	1.44	0.30355	N	0.7843720000000001	B	0.06786	0.001	B	0.17979	0.02	T	0.35649	-0.9780	7	.	.	.	.	.	.	.	.	138	Q8TD47	RS4Y2_HUMAN	Q	138	ENSP00000288666:H138Q	.	H	+	3	2	RPS4Y2	21340132	1.000000	0.71417	0.977000	0.42913	0.138000	0.21146	1.016000	0.29976	-0.618000	0.05656	0.163000	0.16589	CAC		0.438	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			22	25	1	0	2.89027e-11	0.00229938	8.80844e-11	22	25					A	22930744	C	A	22930744	3	1	337	1	0	0	0	0	1	0	0	0	13647	506	18	4	432	4	RPS4Y2	24	22930744	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		22930744	36442822	62	32867											
PSMD4	5710	broad.mit.edu	37	chr1	151237660	151237660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtgaaactggctaaaCgcctcaagaaggagaaagta	12	7	1	3			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:151237660C>T	ENST00000368884.3	+	5	468	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	PSMD4_ENST00000368881.4_Missense_Mutation_p.R130C	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	130	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	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)			ACTGGCTAAACGCCTCAAGAA	0.443																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(388-390)Cgc>Tgc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4							74	69	71					1																	151237660		2203	4300	6503	SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151237660C>T	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.388C>T	1.37:g.151237660C>T	ENSP00000357879:p.Arg130Cys					PSMD4_ENST00000368881.4_Missense_Mutation_p.R130C	p.R130C	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	468	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		130			VWFA.		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.388C>T	CCDS991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.092740|4.092740	0.76756|0.76756	.|.	.|.	ENSG00000159352|ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736|ENST00000445776	T;T;T|.	0.13901|.	2.55;2.55;2.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Ssl1-like (1);von Willebrand factor, type A (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72423|0.72423	0.3458|0.3458	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	B;B|.	0.31054|.	0.306;0.148|.	B;B|.	0.29524|.	0.103;0.077|.	T|T	0.70457|0.70457	-0.4866|-0.4866	10|5	0.66056|.	D|.	0.02|.	-14.8066|-14.8066	19.0555|19.0555	0.93062|0.93062	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	130;130|.	Q5VWC4;P55036|.	.;PSMD4_HUMAN|.	C|M	130;130;115|17	ENSP00000357879:R130C;ENSP00000357876:R130C;ENSP00000414499:R115C|.	ENSP00000357876:R130C|.	R|T	+|+	1|2	0|0	PSMD4|PSMD4	149504284|149504284	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.106000|7.106000	0.77039|0.77039	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.443	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		4	19	0	0	0	1	0	4	19					T	151237660	C	T	151237660	3	4	338	1	0	0	0	0	1	0	0	0	12700	536	19	1	406	1	PSMD4	1	151237660	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		151237660	98012961	1	32868											
TTC7A	57217	broad.mit.edu	37	chr2	47220609	47220609	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacatcgtgaagggcatgaGagagctccgggaggtgctgc	17	8	0	3			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:47220609G>A	ENST00000319190.5	+	6	1153	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R228K|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.R262K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	262					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGGCATGAGAGAGCTCCGG	0.547																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(784-786)aGa>aAa		tetratricopeptide repeat domain 7A							142	142	142					2																	47220609		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47220609G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"Tetratricopeptide (TTC) repeat domain containing"	19750	protein-coding gene	gene with protein product		609332	"tetratricopeptide repeat domain 7"	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.785G>A	2.37:g.47220609G>A	ENSP00000316699:p.Arg262Lys					TTC7A_ENST00000394850.2_Missense_Mutation_p.R262K|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R228K	p.R262K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		6	1153	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	262					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.785G>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613205	0.46631	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.29142	2.0;2.01;1.58	5.65	3.85	0.44370	.	0.207551	0.44902	D	0.000415	T	0.14184	0.0343	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.14438	0.0;0.0;0.0;0.01;0.0	B;B;B;B;B	0.10450	0.001;0.001;0.0;0.005;0.003	T	0.09997	-1.0649	10	0.06236	T	0.91	-10.3073	6.4375	0.21831	0.1515:0.0:0.7002:0.1483	.	262;228;262;90;228	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	K	228;262;262;89	ENSP00000386307:R228K;ENSP00000316699:R262K;ENSP00000378320:R262K	ENSP00000316699:R262K	R	+	2	0	TTC7A	47074113	0.961000	0.32948	0.994000	0.49952	0.991000	0.79684	1.841000	0.39240	0.731000	0.32448	0.655000	0.94253	AGA		0.547	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		46	47	0	0	0	1	0	46	47					A	47220609	G	A	47220609	3	1	338	1	0	0	0	0	1	0	0	0	16709	942	33	2	807	2	TTC7A	2	47220609	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		47220609	195978764	2	32869											
AGPS	8540	broad.mit.edu	37	chr2	178386040	178386040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgtatctacttctatTttgcctttaactacagggga	8	8	2	0			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:178386040T>G	ENST00000264167.4	+	18	1887	c.1741T>G	c.(1741-1743)Ttt>Gtt	p.F581V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	581					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTACTTCTATTTTGCCTTTAA	0.383																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1741-1743)Ttt>Gtt		alkylglycerone phosphate synthase							177	166	169					2																	178386040		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178386040T>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1741T>G	2.37:g.178386040T>G	ENSP00000264167:p.Phe581Val					AGPS_ENST00000409888.1_Intron	p.F581V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		18	1887	+			581					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1741T>G	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717678	0.89205	.	.	ENSG00000018510	ENST00000264167	D	0.84298	-1.83	5.83	5.83	0.93111	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.66378	2.025	0.80722	D	1	P	0.41848	0.763	P	0.49421	0.61	D	0.85123	0.0970	10	0.30854	T	0.27	.	11.267	0.49116	0.0:0.0707:0.0:0.9293	.	581	O00116	ADAS_HUMAN	V	581	ENSP00000264167:F581V	ENSP00000264167:F581V	F	+	1	0	AGPS	178094286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	2.236000	0.73375	0.528000	0.53228	TTT		0.383	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			33	67	0	0	0	1	0	33	67					G	178386040	T	G	178386040	3	3	338	1	0	0	0	0	1	0	0	0	394	1841	64	5	1811	5	AGPS	2	178386040	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	131165431	178386040	64813333	3	32870											
SCN10A	6336	broad.mit.edu	37	chr3	38739794	38739794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggaagttgaacatgtcGtcgatgccagcctcccacct	10	13	1	1	rs142804903		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:38739794G>A	ENST00000449082.2	-	27	4916	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1639					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGAACATGTCGTCGATGCCAG	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21167	0.0		0.0	False		,,,				2504	0.0					ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4915-4917)gaC>gaT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G		1,4405	2.1+/-5.4	0,1,2202	174	163	167		4917	-10.1	0.1	3	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	SCN10A	NM_006514.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1639/1957	38739794	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739794G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4917C>T	3.37:g.38739794G>A							p.D1639D	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4916	-			1639					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.4917C>T	CCDS33736.1																																																																																				0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		71	69	0	0	0	1	0	71	69					A	38739794	G	A	38739794	2	1	338	1	0	0	0	0	0	0	0	1	13912	1136	40	1		1	SCN10A	3	38739794	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		38739794	159282636	4	32871											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-													ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga							TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					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.E109del(3)|p.G106_R108del(1)		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)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	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						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		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.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.34	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			44	54						44	54	---	---	---	---	-	178916940	GAA	-	178916938	7	5	338	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HW-7491-01A-11D-2024-08	140177144	178916938	19105492	5	32872											
TINAG	27283	broad.mit.edu	37	chr6	54191662	54191662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggttttaaatttcGccttggcactttgccaccta	8	9	0	2	rs368916966		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr6:54191662G>A	ENST00000259782.4	+	4	668	c.572G>A	c.(571-573)cGc>cAc	p.R191H	TINAG_ENST00000370864.3_Missense_Mutation_p.R173H|TINAG_ENST00000370869.3_Missense_Mutation_p.R187H	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373																																						ENST00000259782.4																			2	Substitution - Missense(2)	p.R191H(1)|p.R191L(1)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(571-573)cGc>cAc		tubulointerstitial nephritis antigen		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	139	127	131		572	4	1	6		131	0,8600		0,0,4300	no	missense	TINAG	NM_014464.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/477	54191662	1,13005	2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191662G>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.572G>A	6.37:g.54191662G>A	ENSP00000259782:p.Arg191His					TINAG_ENST00000370869.3_Missense_Mutation_p.R187H|TINAG_ENST00000370864.3_Missense_Mutation_p.R173H	p.R191H	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	668	+	Lung NSC(77;0.0518)		191					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.572G>A	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501658	0.44455	2.27E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77750	-1.12;-1.12;-1.12	5.82	4.01	0.46588	.	0.349950	0.28544	N	0.014979	T	0.53077	0.1774	M	0.67517	2.055	0.45822	D	0.99869	P	0.44659	0.84	B	0.26517	0.07	T	0.62798	-0.6778	10	0.59425	D	0.04	.	6.5973	0.22681	0.0884:0.0:0.7325:0.1791	.	191	Q9UJW2	TINAG_HUMAN	H	187;141;191;173	ENSP00000359906:R187H;ENSP00000259782:R191H;ENSP00000359901:R173H	ENSP00000259782:R191H	R	+	2	0	TINAG	54299621	1.000000	0.71417	0.994000	0.49952	0.709000	0.40893	2.893000	0.48633	1.420000	0.47138	0.643000	0.83706	CGC		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		30	54	0	0	0	1	0	30	54					A	54191662	G	A	54191662	3	1	338	1	0	0	0	0	1	0	0	0	15918	1087	38	1	586	1	TINAG	6	54191662	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		54191662	116923405	6	32873											
LAMB4	22798	broad.mit.edu	37	chr7	107748127	107748127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttggagtcacaaacaatGtctcccactccctgggcctg	8	13	2	0			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:107748127G>T	ENST00000388781.3	-	6	623	c.540C>A	c.(538-540)gaC>gaA	p.D180E	LAMB4_ENST00000388780.3_Missense_Mutation_p.D180E|LAMB4_ENST00000418464.1_Missense_Mutation_p.D180E|LAMB4_ENST00000414450.2_Missense_Mutation_p.D180E|LAMB4_ENST00000205386.4_Missense_Mutation_p.D180E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	180	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACAAACAATGTCTCCCACTC	0.398																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(538-540)gaC>gaA		laminin, beta 4							109	107	107					7																	107748127		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107748127G>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.540C>A	7.37:g.107748127G>T	ENSP00000373433:p.Asp180Glu					LAMB4_ENST00000414450.2_Missense_Mutation_p.D180E|LAMB4_ENST00000205386.4_Missense_Mutation_p.D180E|LAMB4_ENST00000388780.3_Missense_Mutation_p.D180E	p.D180E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			6	623	-			180			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.540C>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553236	0.45487	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.86	4.02	0.46733	Laminin, N-terminal (3);	0.000000	0.56097	D	0.000039	T	0.64778	0.2629	L	0.35723	1.085	0.58432	D	0.999996	P	0.46784	0.884	P	0.45138	0.471	T	0.66040	-0.6022	10	0.62326	D	0.03	.	5.6274	0.17490	0.2204:0.1627:0.6169:0.0	.	180	A4D0S4	LAMB4_HUMAN	E	180	ENSP00000205386:D180E;ENSP00000373433:D180E;ENSP00000373432:D180E;ENSP00000402353:D180E;ENSP00000402265:D180E	ENSP00000205386:D180E	D	-	3	2	LAMB4	107535363	0.064000	0.20934	0.977000	0.42913	0.347000	0.29111	-0.105000	0.10907	1.438000	0.47492	0.655000	0.94253	GAC		0.398	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		26	34	1	0	3.80469e-20	1	4.01035e-20	26	34					T	107748127	G	T	107748127	3	4	338	1	0	0	0	0	1	0	0	0	8613	1368	48	4	4861	4	LAMB4	7	107748127	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		107748127	51390536	7	32874											
SLC37A3	84255	broad.mit.edu	37	chr7	140058508	140058508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggactgcagcaggccGttcacaatccacaggcagca	11	14	1	0	rs142313913		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:140058508G>A	ENST00000326232.9	-	6	656	c.453C>T	c.(451-453)aaC>aaT	p.N151N	SLC37A3_ENST00000429996.2_Intron|SLC37A3_ENST00000447932.2_Silent_p.N151N|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000340308.3_Silent_p.N151N	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	151					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GCAGCAGGCCGTTCACAATCC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19595	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.(451-453)aaC>aaT		solute carrier family 37, member 3		G	,	6,4400	11.4+/-27.6	0,6,2197	159	154	155		453,453	-6.5	0.7	7	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC37A3	NM_032295.2,NM_207113.1	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	151/444,151/495	140058508	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140058508G>A	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.453C>T	7.37:g.140058508G>A						SLC37A3_ENST00000429996.2_Intron|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000340308.3_Silent_p.N151N|SLC37A3_ENST00000447932.2_Silent_p.N151N	p.N151N	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN			6	656	-	Melanoma(164;0.0142)		151					Q6PIU7|Q86SS4|Q9BQG7	Silent	SNP	ENST00000326232.9	37	c.453C>T	CCDS5859.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329628	0.24167	0.001362	0.0	ENSG00000157800	ENST00000485861	.	.	.	5.58	-6.48	0.01896	.	.	.	.	.	T	0.66607	0.2806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68977	-0.5267	4	.	.	.	-27.0721	18.7155	0.91673	0.7421:0.0:0.2579:0.0	.	.	.	.	M	76	.	.	T	-	2	0	SLC37A3	139704977	0.591000	0.26824	0.662000	0.29724	0.987000	0.75469	-0.069000	0.11542	-1.477000	0.01872	-0.793000	0.03317	ACG		0.512	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		61	92	0	0	0	1	0	61	92					A	140058508	G	A	140058508	2	1	338	1	0	0	0	0	0	0	0	1	14599	1136	40	1		1	SLC37A3	7	140058508	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08	32310381	140058508	19080155	8	32875											
VPS13A	23230	broad.mit.edu	37	chr9	79936584	79936584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagaaagtttaagtatgGattatatccgaaccaaggac	10	5	0	1			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:79936584G>A	ENST00000360280.3	+	44	6012	c.5752G>A	c.(5752-5754)Gat>Aat	p.D1918N	VPS13A_ENST00000376634.4_Missense_Mutation_p.D1918N|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1918N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1879N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1918					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						TTTAAGTATGGATTATATCCG	0.338																																						ENST00000360280.3																			0				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						c.(5752-5754)Gat>Aat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							86	83	84					9																	79936584		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79936584G>A	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.5752G>A	9.37:g.79936584G>A	ENSP00000353422:p.Asp1918Asn					VPS13A_ENST00000376634.4_Missense_Mutation_p.D1918N|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1918N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1879N	p.D1918N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			44	6012	+			1918					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5752G>A	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.707763|3.707763	0.68615|0.68615	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|.	0.47869|.	1.0;0.83;0.92;1.0|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.054540|.	0.64402|.	D|.	0.000001|.	T|.	0.75838|.	0.3904|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.89917|.	1.0;0.57;0.999;0.997;0.997|.	D;B;P;D;D|.	0.70227|.	0.968;0.295;0.859;0.933;0.933|.	T|.	0.72839|.	-0.4171|.	10|.	0.26408|.	T|.	0.33|.	.|.	20.064|20.064	0.97700|0.97700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	170;1879;1918;1918;1918|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	N|X	1918;1879;1918;1918|170	ENSP00000365821:D1918N;ENSP00000365823:D1879N;ENSP00000353422:D1918N;ENSP00000349985:D1918N|.	ENSP00000349985:D1918N|.	D|W	+|+	1|3	0|0	VPS13A|VPS13A	79126404|79126404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	7.325000|7.325000	0.79124|0.79124	2.739000|2.739000	0.93911|0.93911	0.467000|0.467000	0.42956|0.42956	GAT|TGG		0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		24	35	0	0	0	1	0	24	35					A	79936584	G	A	79936584	3	1	338	1	0	0	0	0	1	0	0	0	17186	1174	41	2	5926	2	VPS13A	9	79936584	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		79936584	61276847	9	32876											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			8	58						8	58	---	---	---	---	-	102590618	CAC	-	102590616	7	5	338	1	0	1	0	1	0	0	0	0	10634	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HW-7491-01A-11D-2024-08	22654032	102590616	38622815	10	32877											
OR6Q1	219952	broad.mit.edu	37	chr11	57799000	57799000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccttgctagccttgtcGtgctcagatgtcacttggaa	9	12	3	1	rs528605468		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		24556	0.0		0.0	False		,,,				2504	0.001					ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)tcG>tcA		olfactory receptor, family 6, subfamily Q, member 1							253	223	233					11																	57799000		2201	4296	6497	SO:0001819	synonymous_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799000G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.576G>A	11.37:g.57799000G>A						OR9Q1_ENST00000335397.3_Intron	p.S192S	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	599	+		Breast(21;0.0707)|all_epithelial(135;0.142)	192					B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	37	c.576G>A	CCDS31541.1																																																																																				0.498	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		65	61	0	0	0	1	0	65	61					A	57799000	G	A	57799000	2	1	338	1	0	0	0	0	0	0	0	1	11208	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		57799000	77207516	11	32878											
CMKLR1	1240	broad.mit.edu	37	chr12	108685742	108685742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttagagcattgaccaggCgagagaagagggccaccttg	13	10	0	4	rs201296420		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr12:108685742C>T	ENST00000312143.7	-	3	1361	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	333					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						ATTGACCAGGCGAGAGAAGAG	0.483																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(997-999)cGc>cAc		chemokine-like receptor 1							94	95	94					12																	108685742		1951	4139	6090	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685742C>T	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.998G>A	12.37:g.108685742C>T	ENSP00000311733:p.Arg333His					CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331H	p.R333H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN			3	1361	-			333					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.998G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	16.14	3.038798	0.55003	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.36	5.36	0.76844	.	0.745739	0.12476	N	0.465606	T	0.51719	0.1691	L	0.29908	0.895	0.36742	D	0.882304	D	0.76494	0.999	D	0.66351	0.943	T	0.44112	-0.9349	10	0.15499	T	0.54	.	18.0847	0.89454	0.0:1.0:0.0:0.0	.	333	Q99788	CML1_HUMAN	H	333;333;331;331;333	ENSP00000311733:R333H;ENSP00000401293:R333H;ENSP00000380803:R331H;ENSP00000447579:R331H;ENSP00000449716:R333H	ENSP00000311733:R333H	R	-	2	0	CMKLR1	107209872	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	2.729000	0.47327	2.499000	0.84300	0.556000	0.70494	CGC		0.483	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			29	54	0	0	0	1	0	29	54					T	108685742	C	T	108685742	3	4	338	1	0	0	0	0	1	0	0	0	3579	768	27	1	127	1	CMKLR1	12	108685742	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		108685742	25166153	12	32879											
UTP14C	9724	broad.mit.edu	37	chr13	52605154	52605154	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagaggatgtgggctaCcagtcttcctcaaggtcaga	12	9	3	2	rs141049018		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:52605154C>G	ENST00000521776.2	+	2	2947	c.2214C>G	c.(2212-2214)taC>taG	p.Y738*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	738					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)		ATGTGGGCTACCAGTCTTCCT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		18316	0.0		0.0	False		,,,				2504	0.001					ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2212-2214)taC>taG		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)		C	stop/TYR	0,4406		0,0,2203	126	118	121		2214	0.8	0.2	13	dbSNP_134	121	16,8584	11.9+/-42.8	0,16,4284	yes	stop-gained	UTP14C	NM_021645.5		0,16,6487	GG,GC,CC		0.186,0.0,0.123		738/767	52605154	16,12990	2203	4300	6503	SO:0001587	stop_gained	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52605154C>G	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.2214C>G	13.37:g.52605154C>G	ENSP00000428619:p.Tyr738*						p.Y738*	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2947	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	738					Q5FWG3|Q92555	Nonsense_Mutation	SNP	ENST00000521776.2	37	c.2214C>G	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	41	8.859598	0.98980	0.0	0.00186	ENSG00000253797	ENST00000521776	.	.	.	2.61	0.768	0.18487	.	0.868491	0.10284	N	0.693199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1902	3.1681	0.06542	0.0:0.4859:0.2286:0.2855	.	.	.	.	X	738	.	.	Y	+	3	2	UTP14C	51503155	0.001000	0.12720	0.247000	0.24249	0.639000	0.38242	0.067000	0.14510	0.157000	0.19338	0.455000	0.32223	TAC		0.483	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		4	72	0	0	0	1	0	4	72					G	52605154	C	G	52605154	4	3	338	1	0	0	0	0	0	1	0	0	17093	518	18	4	2216	4	UTP14C	13	52605154	Nonsense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		52605154	62564724	13	32880											
SLITRK6	84189	broad.mit.edu	37	chr13	86370348	86370348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcaatatctgcaataTtgttaaatccaaggtgtatt	5	7	2	0			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:86370348T>C	ENST00000400286.2	-	2	894	c.296A>G	c.(295-297)aAt>aGt	p.N99S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	99					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGCAATATTGTTAAATCC	0.353																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(295-297)aAt>aGt		SLIT and NTRK-like family, member 6							160	150	153					13																	86370348		1862	4095	5957	SO:0001583	missense	84189					integral to membrane		g.chr13:86370348T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.296A>G	13.37:g.86370348T>C	ENSP00000383143:p.Asn99Ser						p.N99S	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	894	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		99					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.296A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	4.390	0.072031	0.08436	.	.	ENSG00000184564	ENST00000400286	T	0.52526	0.66	6.17	5.01	0.66863	.	0.046027	0.85682	D	0.000000	T	0.31606	0.0802	L	0.31664	0.95	0.43719	D	0.996198	B	0.09022	0.002	B	0.06405	0.002	T	0.10823	-1.0613	10	0.09590	T	0.72	-23.2043	10.8158	0.46575	0.0:0.0735:0.0:0.9265	.	99	Q9H5Y7	SLIK6_HUMAN	S	99	ENSP00000383143:N99S	ENSP00000383143:N99S	N	-	2	0	SLITRK6	85268349	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.959000	0.63666	2.371000	0.80710	0.533000	0.62120	AAT		0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		73	20	0	0	0	1	0	73	20					C	86370348	T	C	86370348	3	2	338	1	0	0	0	0	1	0	0	0	14747	1493	52	3	2233	3	SLITRK6	13	86370348	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	33765194	86370348	28799530	14	32881											
TRIM9	114088	broad.mit.edu	37	chr14	51448645	51448645	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcgagccacaccaaaggcagGatcagggtggttgtcatagc	14	10	2	0			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr14:51448645G>C	ENST00000298355.3	-	8	2901	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	TRIM9_ENST00000557456.1_5'Flank|TRIM9_ENST00000338969.5_Missense_Mutation_p.P675A	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	594	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)					CCAAAGGCAGGATCAGGGTGG	0.517																																						ENST00000298355.3																			0				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						c.(1780-1782)Cct>Gct		tripartite motif containing 9							204	165	178					14																	51448645		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51448645G>C	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.1780C>G	14.37:g.51448645G>C	ENSP00000298355:p.Pro594Ala					TRIM9_ENST00000338969.5_Missense_Mutation_p.P675A	p.P594A	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			8	2901	-	all_epithelial(31;0.00418)|Breast(41;0.148)		594			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.1780C>G	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267968	0.40095	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	T;T	0.67523	-0.27;-0.27	6.08	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.050087	0.85682	D	0.000000	T	0.76877	0.4049	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.73668	-0.3910	10	0.23891	T	0.37	.	16.4654	0.84077	0.0:0.1312:0.8688:0.0	.	675;594	Q9C026-4;Q9C026	.;TRIM9_HUMAN	A	594;675	ENSP00000298355:P594A;ENSP00000342970:P675A	ENSP00000298355:P594A	P	-	1	0	TRIM9	50518395	1.000000	0.71417	0.991000	0.47740	0.022000	0.10575	9.869000	0.99810	1.560000	0.49568	-0.282000	0.10007	CCT		0.517	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		41	53	0	0	0	1	0	41	53					C	51448645	G	C	51448645	3	2	338	1	0	0	0	0	1	0	0	0	16546	1174	41	4	364	4	TRIM9	14	51448645	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		51448645	55900895	15	32882											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			34	30	0	0	0	1	0	34	30					T	90631838	C	T	90631838	3	4	338	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		90631838	11899554	16	32883											
GLIS2	84662	broad.mit.edu	37	chr16	4383346	4383346	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgtgcctctccctcAggcttcctgctgaactccaa	7	16	2	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4383346A>G	ENST00000262366.3	+	4	993		c.e4-1		GLIS2_ENST00000433375.1_Splice_Site|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2						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						CCTCTCCCTCAGGCTTCCTGC	0.612																																						ENST00000262366.3																			0				breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.e4-1		GLIS family zinc finger 2							46	37	40					16																	4383346		2196	4300	6496	SO:0001630	splice_region_variant	84662				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding	g.chr16:4383346A>G	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.173-1A>G	16.37:g.4383346A>G						GLIS2_ENST00000433375.1_Splice_Site|PAM16_ENST00000577031.1_Intron				Q9BZE0	GLIS2_HUMAN			4	993	+								B3KX84	Splice_Site	SNP	ENST00000262366.3	37		CCDS10511.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442402	0.43326	.	.	ENSG00000126603	ENST00000262366;ENST00000433375	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2998	0.49298	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLIS2	4323347	1.000000	0.71417	0.970000	0.41538	0.520000	0.34377	5.195000	0.65131	1.922000	0.55676	0.454000	0.30748	.		0.612	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251630.1	NM_032575	Intron	3	40	0	0	0	1	0	3	40					G	4383346	A	G	4383346	5	3	338	1	0	0	0	0	0	0	1	0	6446	202	7	3	177	3	GLIS2	16	4383346	Splice_Site	SNP	A	TCGA-HW-7491-01A-11D-2024-08		4383346	85971407	17	32884											
VASN	114990	broad.mit.edu	37	chr16	4431389	4431391	+	In_Frame_Del	DEL	CTG	CTG	-													ccccgctgcgcctgccccgcCtgctgctgctggacctcagc							TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4431389_4431391delCTG	ENST00000304735.3	+	2	666_668	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7_ENST00000539968.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	174					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704																																						ENST00000304735.3																			0				breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(511-513)del		vasorin			,,,,	13,3925		1,11,1957					,,,,	4.8	1			8	53,7679		3,47,3816	no	coding,intron,intron,intron,intron	CORO7,VASN,CORO7-PAM16	NM_138440.2,NM_024535.4,NM_001201479.1,NM_001201473.1,NM_001201472.1	,,,,	4,58,5773	A1A1,A1R,RR		0.6855,0.3301,0.5656	,,,,	,,,,		66,11604				SO:0001651	inframe_deletion	114990					extracellular region|integral to membrane		g.chr16:4431389_4431391delCTG	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.511_513delCTG	16.37:g.4431398_4431400delCTG	ENSP00000306864:p.Leu174del					CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron	p.L174del	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	666_668	+			174					Q6UXL4|Q6UXL5|Q96CX1	In_Frame_Del	DEL	ENST00000304735.3	37	c.511_513delCTG	CCDS10514.1																																																																																				0.704	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		2	4						2	4	---	---	---	---	-	4431391	CTG	-	4431389	7	5	338	1	0	1	0	1	0	0	0	0	17124	680	24	0	513	0	VASN	16	4431389	In_Frame_Del	DEL	CTG	TCGA-HW-7491-01A-11D-2024-08	48043	4431389	85923364	18	32885											
SLC12A4	6560	broad.mit.edu	37	chr16	67986327	67986340	+	Splice_Site	DEL	GTCTGAAACAAGAA	GTCTGAAACAAGAA	-													cagctggtggggcaatgtagGtctgaaacaagaagatggat							TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:67986327_67986340delGTCTGAAACAAGAA	ENST00000316341.3	-	7	816_817	c.676_677delTTCTTGTTTCAGAC	c.(676-678)ttc>c	p.F226fs	SLC12A4_ENST00000338335.3_Splice_Site_p.F226fs|SLC12A4_ENST00000422611.2_Splice_Site_p.F228fs|SLC12A4_ENST00000576616.1_Splice_Site_p.F226fs|SLC12A4_ENST00000541864.2_Splice_Site_p.F195fs|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Splice_Site_p.F178fs|SLC12A4_ENST00000537830.2_Splice_Site_p.F220fs	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	226					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG	0.449																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.e6-1		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001630	splice_region_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986327_67986340delGTCTGAAACAAGAA		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.676-1TTCTTGTTTCAGAC>-	16.37:g.67986327_67986340delGTCTGAAACAAGAA						SLC12A4_ENST00000576616.1_Splice_Site_p.226_splice|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Splice_Site_p.226_splice|SLC12A4_ENST00000541864.2_Splice_Site_p.195_splice|SLC12A4_ENST00000316341.3_Splice_Site_p.226_splice|SLC12A4_ENST00000537830.2_Splice_Site_p.220_splice|SLC12A4_ENST00000572037.1_Splice_Site_p.178_splice	p.228_splice	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	721_722	-		Ovarian(137;0.192)	226					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Splice_Site	DEL	ENST00000316341.3	37	c.681_splice	CCDS10855.1																																																																																				0.449	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	Frame_Shift_Del	17	100						17	100	---	---	---	---	-	67986340	GTCTGAAACAAGAA	-	67986327	8	5	338	1	0	1	0	1	0	0	1	0	14385	1275	44	0	2652	0	SLC12A4	16	67986327	Splice_Site	DEL	GTCTGAAACAAGAA	TCGA-HW-7491-01A-11D-2024-08	63554938	67986327	22368426	19	32886											
DVL2	1856	broad.mit.edu	37	chr17	7132713	7132713	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacccatgtttagcgtgacTgtgatgatattgagagacat	10	6	0	5			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:7132713T>C	ENST00000005340.5	-	7	1083	c.801A>G	c.(799-801)acA>acG	p.T267T	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.T261T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	267	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTAGCGTGACTGTGATGATAT	0.567																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(799-801)acA>acG		dishevelled segment polarity protein 2							149	141	144					17																	7132713		2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7132713T>C	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.801A>G	17.37:g.7132713T>C						DVL2_ENST00000575458.1_Silent_p.T261T|DVL2_ENST00000574642.1_5'UTR	p.T267T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			7	1083	-			267			PDZ.		D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.801A>G	CCDS11091.1																																																																																				0.567	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		37	55	0	0	0	1	0	37	55					C	7132713	T	C	7132713	2	2	338	1	0	0	0	0	0	0	0	1	4836	1567	55	3		3	DVL2	17	7132713	Silent	SNP	T	TCGA-HW-7491-01A-11D-2024-08		7132713	74062497	20	32887											
PLCD3	113026	broad.mit.edu	37	chr17	43198453	43198453	+	Frame_Shift_Del	DEL	C	C	-													cccgaagcgccgcaggccctCggactggtggccctcgcgga							TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:43198453delC	ENST00000322765.5	-	3	483	c.370delG	c.(370-372)gagfs	p.E124fs	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	124	PH.				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						CGCAGGCCCTCGGACTGGTGG	0.736																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(370-372)agfs		phospholipase C, delta 3	Phosphatidylserine(DB00144)						4	6	5					17																	43198453		1766	3793	5559	SO:0001589	frameshift_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43198453delC	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.370delG	17.37:g.43198453delC	ENSP00000313731:p.Glu124fs					PLCD3_ENST00000540511.1_5'UTR	p.E124fs	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			3	483	-			124			PH.		Q8TEC1|Q8TF37|Q96FL6	Frame_Shift_Del	DEL	ENST00000322765.5	37	c.370delG																																																																																					0.736	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		2	4						2	4	---	---	---	---	-	43198453	C	-	43198453	7	5	338	1	0	1	0	1	0	0	0	0	12032	893	31	0	2050	0	PLCD3	17	43198453	Frame_Shift_Del	DEL	C	TCGA-HW-7491-01A-11D-2024-08	36065740	43198453	37996757	21	32888											
FUT5	2527	broad.mit.edu	37	chr19	5867346	5867347	+	Frame_Shift_Ins	INS	-	-	GG													gggggcgggaggttggcactINSggggttgtacatgatatccc					rs111394159		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:5867346_5867347insGG	ENST00000588525.1	-	2	477_478	c.390_391insCC	c.(388-393)cccagtfs	p.S131fs	FUT5_ENST00000252675.5_Frame_Shift_Ins_p.S131fs	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	131					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTTGGCACTGGGGTTGTACA	0.663																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(388-393)ccgtgcfs		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)																																				SO:0001589	frameshift_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867346_5867347insGG		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.389_390dupCC	19.37:g.5867349_5867350dupGG	ENSP00000466880:p.Ser131fs					FUT5_ENST00000588525.1_Frame_Shift_Ins_p.C131fs	p.C131fs			Q11128	FUT5_HUMAN			5	952_953	-			131					A8K4X2	Frame_Shift_Ins	INS	ENST00000588525.1	37	c.390_391insCC	CCDS12154.1																																																																																				0.663	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		25	39						25	39	---	---	---	---	GG	5867347	-	GG	5867346	7	5	338	1	0	1	1	0	0	0	0	0	6107	1580	55	0	737	0	FUT5	19	5867346	Frame_Shift_Ins	INS	-	TCGA-HW-7491-01A-11D-2024-08		5867346	53261637	22	32889											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	12	15	2	1			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000572681.2_Missense_Mutation_p.R1124W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	10	0	0	0	1	0	36	10					T	42791757	C	T	42791757	3	4	338	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08	36924411	42791757	16337226	23	32890											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873158	37873158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggggtactgttcggacagGctggaggagtggctgtctct	17	8	1	0			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:37873158G>T	ENST00000295324.3	-	2	1573	c.573C>A	c.(571-573)agC>agA	p.S191R	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	191					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GTTCGGACAGGCTGGAGGAGT	0.592																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(571-573)agC>agA		CDC42 effector protein (Rho GTPase binding) 3							76	84	81					2																	37873158		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873158G>T	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.573C>A	2.37:g.37873158G>T	ENSP00000295324:p.Ser191Arg					AC006369.2_ENST00000419425.1_RNA	p.S191R	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1573	-		all_hematologic(82;0.172)	191					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.573C>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456822	0.63401	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T;T	0.32515	1.45;1.5	5.91	3.8	0.43715	.	0.642575	0.17377	N	0.176439	T	0.29652	0.0740	L	0.44542	1.39	0.37855	D	0.929533	D	0.54964	0.969	P	0.47162	0.54	T	0.09773	-1.0659	10	0.20519	T	0.43	.	11.2966	0.49282	0.172:0.0:0.828:0.0	.	191	Q9UKI2	BORG2_HUMAN	R	191	ENSP00000295324:S191R;ENSP00000403298:S191R	ENSP00000295324:S191R	S	-	3	2	CDC42EP3	37726662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.411000	0.34702	1.505000	0.48720	0.655000	0.94253	AGC		0.592	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		14	43	1	0	3.27435e-08	1	3.27435e-08	14	43					T	37873158	G	T	37873158	3	4	339	1	0	0	0	0	1	0	0	0	3077	1194	42	4	195	4	CDC42EP3	2	37873158	Missense_Mutation	SNP	G	TCGA-HW-7493-01A-11D-2024-08		37873158	205326215	1	32891											
TTN	7273	broad.mit.edu	37	chr2	179498807	179498807	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgacatgaatttcagtcttAtacctgaaatgcaagcatag	8	7	2	3			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:179498807A>T	ENST00000591111.1	-	181	37720	c.37496T>A	c.(37495-37497)aTa>aAa	p.I12499K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5267K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I14140K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I11572K|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5200K|TTN_ENST00000460472.2_Missense_Mutation_p.I5075K			Q8WZ42	TITIN_HUMAN	titin	12499	Ig-like 83.				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)			TTTCAGTCTTATACCTGAAAT	0.368																																						ENST00000589042.1																			0				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						c.(42418-42420)aTa>aAa		titin							72	66	68					2																	179498807		1858	4100	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498807A>T	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.37496T>A	2.37:g.179498807A>T	ENSP00000465570:p.Ile12499Lys					TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5075K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12499K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5200K|TTN_ENST00000342992.6_Missense_Mutation_p.I11572K|TTN_ENST00000342175.6_Missense_Mutation_p.I5267K|TTN-AS1_ENST00000585451.1_RNA	p.I14140K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		231	42643	-			12499			Fibronectin type-III 2.		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	ENST00000591111.1	37	c.42419T>A		.	.	.	.	.	.	.	.	.	.	A	10.38	1.334383	0.24253	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61392	0.11;0.33;0.31;0.3	5.95	5.95	0.96441	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.56470	0.1987	M	0.69823	2.125	0.58432	D	0.999998	P;P;P;P	0.42123	0.612;0.612;0.771;0.481	B;B;B;B	0.34038	0.132;0.132;0.174;0.174	T	0.65063	-0.6259	9	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	5075;5200;5267;12499	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11572;5075;5267;5200;5075	ENSP00000343764:I11572K;ENSP00000434586:I5075K;ENSP00000340554:I5267K;ENSP00000352154:I5200K	ENSP00000340554:I5267K	I	-	2	0	TTN	179207052	1.000000	0.71417	0.999000	0.59377	0.356000	0.29392	9.277000	0.95755	2.268000	0.75426	0.533000	0.62120	ATA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	45	0	0	0	1	0	10	45					T	179498807	A	T	179498807	3	4	339	1	0	0	0	0	1	0	0	0	16732	449	16	5	65802	5	TTN	2	179498807	Missense_Mutation	SNP	A	TCGA-HW-7493-01A-11D-2024-08	141625649	179498807	63700566	2	32892											
MYO1B	4430	broad.mit.edu	37	chr2	192234306	192234306	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctctggctaaaaacctctaCagcaggttgttttcatggtt	9	9	3	0			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:192234306C>G	ENST00000392318.3	+	12	1318	c.1071C>G	c.(1069-1071)taC>taG	p.Y357*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.Y357*|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.Y357*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	357	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)			AAAACCTCTACAGCAGGTTGT	0.328																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1069-1071)taC>taG		myosin IB							80	81	81					2																	192234306		2203	4300	6503	SO:0001587	stop_gained	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192234306C>G	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.1071C>G	2.37:g.192234306C>G	ENSP00000376132:p.Tyr357*					MYO1B_ENST00000304164.4_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.Y357*	p.Y357*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		12	1318	+			357			Myosin head-like.		O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	c.1071C>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421425	0.96111	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	1.19	0.21007	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9383	0.41565	0.0:0.62:0.0:0.38	.	.	.	.	X	357	.	ENSP00000306382:Y357X	Y	+	3	2	MYO1B	191942551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.593000	0.36686	0.297000	0.22615	-0.136000	0.14681	TAC		0.328	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		11	36	0	0	0	1	0	11	36					G	192234306	C	G	192234306	4	3	339	1	0	0	0	0	0	1	0	0	10069	489	17	4	1113	4	MYO1B	2	192234306	Nonsense_Mutation	SNP	C	TCGA-HW-7493-01A-11D-2024-08	12735499	192234306	50965067	3	32893											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	42	0	0	0	1	0	23	42					T	209113112	C	T	209113112	3	4	339	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7493-01A-11D-2024-08	16878806	209113112	34086261	4	32894											
LTF	4057	broad.mit.edu	37	chr3	46479431	46479431	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagctagggtctacttacGggaggttgagcactttttca	12	8	2	1	rs137886255		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:46479431G>A	ENST00000231751.4	-	16	2393	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S	LTF_ENST00000426532.2_Splice_Site_p.P656S|LTF_ENST00000417439.1_Splice_Site_p.P698S|LTF_ENST00000493056.1_5'Flank	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	700					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.P700T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GTCTACTTACGGGAGGTTGAG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16767	0.0		0.0	False		,,,				2504	0.001					ENST00000231751.4																			1	Substitution - Missense(1)	p.P700T(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.e16+1		lactotransferrin	Pefloxacin(DB00487)	G	SER/PRO,SER/PRO	3,4403	6.2+/-15.9	0,3,2200	196	186	189		1966,2098	-2.3	0.7	3	dbSNP_134	189	0,8598		0,0,4299	yes	missense-near-splice,missense-near-splice	LTF	NM_001199149.1,NM_002343.3	74,74	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	656/667,700/711	46479431	3,13001	2203	4299	6502	SO:0001630	splice_region_variant	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46479431G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.2098+1C>T	3.37:g.46479431G>A						LTF_ENST00000426532.2_Splice_Site_p.P656_splice|LTF_ENST00000417439.1_Splice_Site_p.P698_splice	p.P700_splice	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	16	2393	-			700					A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Splice_Site	SNP	ENST00000231751.4	37	c.2098_splice	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	6.473	0.455463	0.12283	6.81E-4	0.0	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.1	-2.27	0.06846	.	1.195740	0.05809	N	0.613752	T	0.05502	0.0145	L	0.37850	1.14	0.38599	D	0.950618	B;D;B	0.58620	0.344;0.983;0.344	B;B;B	0.36464	0.006;0.225;0.006	T	0.54483	-0.8287	9	.	.	.	-12.7965	12.7667	0.57396	0.0:0.6273:0.2448:0.1279	.	698;687;700	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	S	700;656;698;687	ENSP00000231751:P700S;ENSP00000405719:P656S;ENSP00000405546:P698S;ENSP00000397427:P687S	.	P	-	1	0	LTF	46454435	0.287000	0.24315	0.683000	0.30040	0.200000	0.23975	-0.499000	0.06413	-0.191000	0.10448	-0.172000	0.13284	CCC		0.458	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	Missense_Mutation	15	163	0	0	0	1	0	15	163					A	46479431	G	A	46479431	5	1	339	1	0	0	0	0	0	0	1	0	9079	1130	39	1	42	1	LTF	3	46479431	Splice_Site	SNP	G	TCGA-HW-7493-01A-11D-2024-08		46479431	151542999	5	32895											
VWA2	340706	broad.mit.edu	37	chr10	116032596	116032596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccagatcctcatcatcGtcactgatgggaagtcccag	9	14	3	2	rs569122106		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:116032596G>A	ENST00000392982.3	+	6	719	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	VWA2_ENST00000603594.1_Missense_Mutation_p.V157I			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	157	VWFA 1. {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)		CCTCATCATCGTCACTGATGG	0.567																																						ENST00000603594.1																			0				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						c.(469-471)Gtc>Atc		von Willebrand factor A domain containing 2							117	96	103					10																	116032596		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116032596G>A	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.469G>A	10.37:g.116032596G>A	ENSP00000376708:p.Val157Ile					VWA2_ENST00000392982.3_Missense_Mutation_p.V157I	p.V157I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	6	790	+			157			VWFA 1.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.469G>A		.	.	.	.	.	.	.	.	.	.	G	1.867	-0.461256	0.04508	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.97089	-4.24	5.51	-7.15	0.01521	von Willebrand factor, type A (3);	0.856240	0.10377	N	0.682080	D	0.86682	0.5991	N	0.04260	-0.245	0.09310	N	0.999999	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.80018	-0.1558	10	0.05833	T	0.94	.	9.5011	0.39017	0.6029:0.1757:0.2214:0.0	.	157;157	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	I	157	ENSP00000376708:V157I	ENSP00000298715:V157I	V	+	1	0	VWA2	116022586	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.557000	0.02166	-1.765000	0.01303	-1.202000	0.01658	GTC		0.567	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		9	43	0	0	0	1	0	9	43					A	116032596	G	A	116032596	3	1	339	1	0	0	0	0	1	0	0	0	17236	1145	40	1	487	1	VWA2	10	116032596	Missense_Mutation	SNP	G	TCGA-HW-7493-01A-11D-2024-08		116032596	19502151	6	32896											
CLRN3	119467	broad.mit.edu	37	chr10	129676535	129676535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactatatttagaagaatgaCgagcagtatgagccagaacg	11	6	0	5			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:129676535C>T	ENST00000368671.3	-	3	721	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	187						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGAAGAATGACGAGCAGTATG	0.468																																						ENST00000368671.3																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(559-561)Gtc>Atc		clarin 3							235	199	211					10																	129676535		2203	4300	6503	SO:0001583	missense	119467					integral to membrane		g.chr10:129676535C>T	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.559G>A	10.37:g.129676535C>T	ENSP00000357660:p.Val187Ile						p.V187I	NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN			3	721	-		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)	187					Q6MZX8	Missense_Mutation	SNP	ENST00000368671.3	37	c.559G>A	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	c	1.890	-0.455768	0.04540	.	.	ENSG00000180745	ENST00000368671	T	0.69306	-0.39	4.48	-1.95	0.07548	.	0.547097	0.17741	N	0.163553	T	0.48095	0.1481	L	0.31664	0.95	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.001	T	0.28170	-1.0052	10	0.19590	T	0.45	.	11.7754	0.51983	0.0:0.4569:0.0:0.5431	.	187;119	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	I	187	ENSP00000357660:V187I	ENSP00000357660:V187I	V	-	1	0	CLRN3	129566525	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.548000	0.06048	-0.587000	0.05890	-1.811000	0.00612	GTC		0.468	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311		52	97	0	0	0	1	0	52	97					T	129676535	C	T	129676535	3	4	339	1	0	0	0	0	1	0	0	0	3559	536	19	1	125	1	CLRN3	10	129676535	Missense_Mutation	SNP	C	TCGA-HW-7493-01A-11D-2024-08	13643939	129676535	5858212	7	32897											
TNFRSF19	55504	broad.mit.edu	37	chr13	24234628	24234628	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgactcagtgcagacctgCggtaagttcagcagggaagt	14	9	2	2	rs138676880	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr13:24234628C>T	ENST00000382258.4	+	7	939	c.735C>T	c.(733-735)tgC>tgT	p.C245C	TNFRSF19_ENST00000248484.4_Splice_Site_p.C245C|TNFRSF19_ENST00000382263.3_Splice_Site_p.C245C|TNFRSF19_ENST00000403372.2_Splice_Site_p.C113C	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	245					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCAGACCTGCGGTAAGTTCA	0.557																																						ENST00000382263.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22						c.e7+1		tumor necrosis factor receptor superfamily, member 19		C	,,,	2,4404	4.2+/-10.8	0,2,2201	54	43	46		735,339,735,735	-2.3	0.7	13	dbSNP_134	46	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	TNFRSF19	NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3	,,,	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	,,,	245/418,113/286,245/424,245/418	24234628	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24234628C>T	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.736+1C>T	13.37:g.24234628C>T						TNFRSF19_ENST00000248484.4_Splice_Site_p.C245_splice|TNFRSF19_ENST00000403372.2_Splice_Site_p.C113_splice|TNFRSF19_ENST00000382258.4_Splice_Site_p.C245_splice	p.C245_splice	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	7	919	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	245					A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Splice_Site	SNP	ENST00000382258.4	37	c.736_splice	CCDS9302.1																																																																																				0.557	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647	Silent	5	20	0	0	0	1	0	5	20					T	24234628	C	T	24234628	5	4	339	1	0	0	0	0	0	0	1	0	16289	782	27	1	757	1	TNFRSF19	13	24234628	Splice_Site	SNP	C	TCGA-HW-7493-01A-11D-2024-08		24234628	90935250	8	32898											
ACSM5	54988	broad.mit.edu	37	chr16	20432615	20432615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaactgcatgaggacaaAgagtcgagacccgctggcca	12	12	0	3			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:20432615A>G	ENST00000331849.4	+	5	806	c.659A>G	c.(658-660)aAg>aGg	p.K220R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	220					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						ATGAGGACAAAGAGTCGAGAC	0.522																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(658-660)aAg>aGg		acyl-CoA synthetase medium-chain family member 5							62	61	61					16																	20432615		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20432615A>G		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.659A>G	16.37:g.20432615A>G	ENSP00000327916:p.Lys220Arg						p.K220R	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			5	806	+			220					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.659A>G	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	3.638	-0.074198	0.07184	.	.	ENSG00000183549	ENST00000331849	T	0.49432	0.78	4.43	-0.415	0.12355	AMP-dependent synthetase/ligase (1);	0.544838	0.17556	N	0.169965	T	0.23806	0.0576	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.17722	0.019	T	0.20538	-1.0272	10	0.20046	T	0.44	-8.6087	9.1712	0.37083	0.5348:0.0:0.4652:0.0	.	220	Q6NUN0	ACSM5_HUMAN	R	220	ENSP00000327916:K220R	ENSP00000327916:K220R	K	+	2	0	ACSM5	20340116	0.000000	0.05858	0.045000	0.18777	0.306000	0.27790	-0.228000	0.09114	-0.205000	0.10219	0.533000	0.62120	AAG		0.522	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		17	25	0	0	0	1	0	17	25					G	20432615	A	G	20432615	3	3	339	1	0	0	0	0	1	0	0	0	187	72	3	3	673	3	ACSM5	16	20432615	Missense_Mutation	SNP	A	TCGA-HW-7493-01A-11D-2024-08		20432615	69922138	9	32899											
NLRC5	84166	broad.mit.edu	37	chr16	57075470	57075470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggaagctgccacctcGgtcacctccacctcgagtga	12	14	1	1	rs148873682		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:57075470G>A	ENST00000262510.6	+	18	3238	c.3013G>A	c.(3013-3015)Ggt>Agt	p.G1005S	NLRC5_ENST00000539144.1_Missense_Mutation_p.G1005S|NLRC5_ENST00000308149.7_Missense_Mutation_p.G1005S|NLRC5_ENST00000436936.1_Missense_Mutation_p.G1005S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1005					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)	p.G1005S(1)		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)				CTGCCACCTCGGTCACCTCCA	0.532																																						ENST00000436936.1																			1	Substitution - Missense(1)	p.G1005S(1)	ovary(1)	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						c.(3013-3015)Ggt>Agt		NLR family, CARD domain containing 5							78	74	75					16																	57075470		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57075470G>A	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.3013G>A	16.37:g.57075470G>A	ENSP00000262510:p.Gly1005Ser					NLRC5_ENST00000308149.7_Missense_Mutation_p.G1005S|NLRC5_ENST00000262510.6_Missense_Mutation_p.G1005S|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1005S	p.G1005S			Q86WI3	NLRC5_HUMAN			18	3238	+		all_neural(199;0.225)	1005					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3013G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.695|3.695	-0.062640|-0.062640	0.07273|0.07273	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74|.	2.43|2.43	-2.0|-2.0	0.07433|0.07433	.|.	0.899723|.	0.09062|.	N|.	0.854198|.	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.01267|0.01267	-0.92|-0.92	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.27971|.	0.015;0.086;0.196;0.029|.	B;B;B;B|.	0.17098|.	0.003;0.011;0.017;0.012|.	T|T	0.35773|0.35773	-0.9775|-0.9775	10|5	0.06494|.	T|.	0.89|.	.|.	5.4857|5.4857	0.16749|0.16749	0.1505:0.5427:0.3068:0.0|0.1505:0.5427:0.3068:0.0	.|.	1005;1005;1005;1005|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	S|Q	1005;1005;1005;479;1005;512;304|757	ENSP00000262510:G1005S;ENSP00000308886:G1005S;ENSP00000389739:G1005S;ENSP00000441727:G1005S;ENSP00000441597:G512S;ENSP00000440153:G304S|.	ENSP00000262510:G1005S|.	G|R	+|+	1|2	0|0	NLRC5|NLRC5	55632971|55632971	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.171000|0.171000	0.22731|0.22731	-3.588000|-3.588000	0.00422|0.00422	-0.371000|-0.371000	0.08004|0.08004	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.532	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		7	23	0	0	0	1	0	7	23					A	57075470	G	A	57075470	3	1	339	1	0	0	0	0	1	0	0	0	10470	1116	39	1	3075	1	NLRC5	16	57075470	Missense_Mutation	SNP	G	TCGA-HW-7493-01A-11D-2024-08	36642855	57075470	33279283	10	32900											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	10	0	0	0	1	0	23	10					A	7577121	G	A	7577121	3	1	339	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-7493-01A-11D-2024-08		7577121	73618089	11	32901											
HKR1	284459	broad.mit.edu	37	chr19	37835619	37835619	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cacacagtgtctacaatgctCcctacatgcatggttcacag	7	13	2	0			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:37835619C>G	ENST00000324411.4	+	3	302	c.33C>G	c.(31-33)ctC>ctG	p.L11L	HKR1_ENST00000591471.1_Intron|HKR1_ENST00000592168.1_Intron|HKR1_ENST00000589392.1_Intron|HKR1_ENST00000586897.1_5'Flank|HKR1_ENST00000591134.1_5'Flank|HKR1_ENST00000392153.3_Intron|HKR1_ENST00000591417.1_Intron|HKR1_ENST00000541583.2_5'Flank|HKR1_ENST00000591259.1_Intron|HKR1_ENST00000544914.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	11					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACAATGCTCCCTACATGCA	0.443																																						ENST00000324411.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(31-33)ctC>ctG		HKR1, GLI-Kruppel zinc finger family member							173	155	161					19																	37835619		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37835619C>G	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.33C>G	19.37:g.37835619C>G						HKR1_ENST00000591417.1_Intron|HKR1_ENST00000591471.1_Intron|HKR1_ENST00000591259.1_Intron|HKR1_ENST00000592168.1_Intron|HKR1_ENST00000392153.3_Intron|HKR1_ENST00000589392.1_Intron|HKR1_ENST00000544914.1_Intron	p.L11L	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	302	+			11					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.33C>G	CCDS12502.1																																																																																				0.443	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		12	77	0	0	0	1	0	12	77					G	37835619	C	G	37835619	2	3	339	1	0	0	0	0	0	0	0	1	7194	842	30	4		4	HKR1	19	37835619	Silent	SNP	C	TCGA-HW-7493-01A-11D-2024-08		37835619	21293364	12	32902											
LIPE	3991	broad.mit.edu	37	chr19	42906913	42906914	+	Frame_Shift_Ins	INS	-	-	G													accctcggggaaggcggcacINSggacgcccaggcctctgtcc					rs7246232	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:42906913_42906914insG	ENST00000244289.4	-	9	3088_3089	c.2812_2813insC	c.(2812-2814)cgtfs	p.R938fs	LIPE-AS1_ENST00000594624.2_RNA|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	938			R -> S (in dbSNP:rs7246232). {ECO:0000269|Ref.3}.		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)				GAAGGCGGCACGGACGCCCAGG	0.604																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2812-2814)tgcfs		lipase, hormone-sensitive																																				SO:0001589	frameshift_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42906913_42906914insG	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.2813dupC	19.37:g.42906915_42906915dupG	ENSP00000244289:p.Arg938fs					LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.C938fs	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			9	3088_3089	-		Prostate(69;0.00682)	938		R -> S (in dbSNP:rs7246232).			Q3LRT2|Q6NSL7	Frame_Shift_Ins	INS	ENST00000244289.4	37	c.2812_2813insC	CCDS12607.1																																																																																				0.604	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		11	19						11	19	---	---	---	---	G	42906914	-	G	42906913	7	5	339	1	0	1	1	0	0	0	0	0	8821	536	19	0	425	0	LIPE	19	42906913	Frame_Shift_Ins	INS	-	TCGA-HW-7493-01A-11D-2024-08	5071294	42906913	16222070	13	32903											
SSX5	6758	broad.mit.edu	37	chrX	48053571	48053571	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccatctactcaccctgatTcccacggttagggtcattat	6	14	3	1			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:48053571T>A	ENST00000376923.1	-	3	273	c.274A>T	c.(274-276)Aat>Tat	p.N92Y	SSX5_ENST00000347757.1_Missense_Mutation_p.N92Y|SSX5_ENST00000311798.1_Missense_Mutation_p.N133Y			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	92					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						TCACCCTGATTCCCACGGTTA	0.507																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(397-399)Aat>Tat		synovial sarcoma, X breakpoint 5							98	89	92					X																	48053571		2203	4297	6500	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053571T>A	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.274A>T	X.37:g.48053571T>A	ENSP00000366122:p.Asn92Tyr					SSX5_ENST00000376923.1_Missense_Mutation_p.N92Y|SSX5_ENST00000347757.1_Missense_Mutation_p.N92Y	p.N133Y	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	449	-			92					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.397A>T	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	10.17	1.277952	0.23307	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.09073	3.02;3.04;3.04	1.72	-0.901	0.10540	.	2.131580	0.02351	N	0.075956	T	0.17874	0.0429	M	0.82923	2.615	0.09310	N	1	P;P	0.38729	0.644;0.594	B;P	0.44860	0.439;0.462	T	0.22208	-1.0223	10	0.36615	T	0.2	.	4.2354	0.10623	0.0:0.451:0.0:0.549	.	92;133	O60225;O60225-2	SSX5_HUMAN;.	Y	133;92;92	ENSP00000312415:N133Y;ENSP00000366122:N92Y;ENSP00000290558:N92Y	ENSP00000312415:N133Y	N	-	1	0	SSX5	47938515	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.678000	0.05209	-0.323000	0.08602	0.143000	0.16000	AAT		0.507	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		20	89	0	0	0	1	0	20	89					A	48053571	T	A	48053571	3	1	339	1	0	0	0	0	1	0	0	0	15207	1783	62	5	308	5	SSX5	23	48053571	Missense_Mutation	SNP	T	TCGA-HW-7493-01A-11D-2024-08		48053571	107216989	14	32904											
ATRX	546	broad.mit.edu	37	chrX	76938832	76938832	+	Frame_Shift_Del	DEL	A	A	-													atgaaacttcattttcaaccAaatgctcattatcactgttt							TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:76938832delA	ENST00000373344.5	-	9	2130	c.1916delT	c.(1915-1917)ttgfs	p.L639fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L601fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	639					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						ATTTTCAACCAAATGCTCATT	0.413			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1915-1917)tgfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						155	170	165					X																	76938832		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938832delA	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.1916delT	X.37:g.76938832delA	ENSP00000362441:p.Leu639fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.L601fs|ATRX_ENST00000480283.1_5'UTR	p.L639fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2130	-			639					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1916delT	CCDS14434.1																																																																																				0.413	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		129	250						129	250	---	---	---	---	-	76938832	A	-	76938832	7	5	339	1	0	1	0	1	0	0	0	0	1208	131	5	0	5670	0	ATRX	23	76938832	Frame_Shift_Del	DEL	A	TCGA-HW-7493-01A-11D-2024-08	28885261	76938832	78331728	15	32905											
KIAA1210	57481	broad.mit.edu	37	chrX	118242329	118242329	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggggccagcaacccagaCtgcacttgtaggcacatttt	10	12	0	1			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:118242329C>A	ENST00000402510.2	-	6	882	c.883G>T	c.(883-885)Gtc>Ttc	p.V295F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	295										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						GCAACCCAGACTGCACTTGTA	0.483																																						ENST00000402510.2																			0				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						c.(883-885)Gtc>Ttc		KIAA1210							137	132	134					X																	118242329		1996	4168	6164	SO:0001583	missense	57481							g.chrX:118242329C>A	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.883G>T	X.37:g.118242329C>A	ENSP00000384670:p.Val295Phe						p.V295F	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			6	882	-			295					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.883G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	2.225	-0.377401	0.05000	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.12569	2.67	3.81	-7.62	0.01294	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	9	0.66056	D	0.02	.	4.7886	0.13238	0.2244:0.5035:0.1123:0.1598	.	295	Q9ULL0	K1210_HUMAN	F	295;131	ENSP00000384670:V295F	ENSP00000396164:V131F	V	-	1	0	RP13-347D8.5;RP13-347D8.6	118126357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.950000	0.01530	-3.286000	0.00196	-3.259000	0.00049	GTC		0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		40	77	1	0	6.99958e-10	1	7.33289e-10	40	77					A	118242329	C	A	118242329	3	1	339	1	0	0	0	0	1	0	0	0	8214	565	20	4	4282	4	KIAA1210	23	118242329	Missense_Mutation	SNP	C	TCGA-HW-7493-01A-11D-2024-08	41303497	118242329	37028231	16	32906											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	13	15	0	2	rs143742734	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399					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)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1195-1197)cGc>cAc		PRAME family member 2		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	70	73	72		1196	-1.6	0	1	dbSNP_134	72	1,8591	2.2+/-6.3	0,1,4295	no	missense	PRAMEF2	NM_023014.1	29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	399/475	12921405	2,12994	2202	4296	6498	SO:0001583	missense	65122							g.chr1:12921405G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1196G>A	1.37:g.12921405G>A	ENSP00000240189:p.Arg399His						p.R399H	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1283	+	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)	399						Missense_Mutation	SNP	ENST00000240189.2	37	c.1196G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903719	0.02453	2.27E-4	1.16E-4	ENSG00000120952	ENST00000240189	T	0.49432	0.78	0.824	-1.65	0.08291	.	1.555060	0.04295	N	0.346332	T	0.30634	0.0771	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13470	T	0.59	.	4.0967	0.09995	0.6152:0.0:0.3848:0.0	.	399	O60811	PRAM2_HUMAN	H	399	ENSP00000240189:R399H	ENSP00000240189:R399H	R	+	2	0	PRAMEF2	12843992	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.445000	0.02401	-0.729000	0.04875	-1.252000	0.01501	CGC		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		7	106	0	0	0	0.004482	0	7	106					A	12921405	G	A	12921405	3	1	340	1	0	0	0	0	1	0	0	0	12435	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		12921405	236329216	1	32907											
CELSR2	1952	broad.mit.edu	37	chr1	109805553	109805553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacagccggcacatagAcatggctgacttcattgcca	12	11	1	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:109805553A>G	ENST00000271332.3	+	7	4731	c.4670A>G	c.(4669-4671)gAc>gGc	p.D1557G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1557	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CGGCACATAGACATGGCTGAC	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(4669-4671)gAc>gGc		cadherin, EGF LAG seven-pass G-type receptor 2							45	43	44					1																	109805553		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109805553A>G	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.4670A>G	1.37:g.109805553A>G	ENSP00000271332:p.Asp1557Gly						p.D1557G	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	7	4731	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1557			Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4670A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403245	0.83230	.	.	ENSG00000143126	ENST00000271332	D	0.82255	-1.59	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.90177	0.6930	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.91935	0.5558	9	0.72032	D	0.01	.	14.6905	0.69083	1.0:0.0:0.0:0.0	.	1557	Q9HCU4	CELR2_HUMAN	G	1557	ENSP00000271332:D1557G	ENSP00000271332:D1557G	D	+	2	0	CELSR2	109607076	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	8.645000	0.91049	2.124000	0.65301	0.459000	0.35465	GAC		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	30	0	0	0	0.001168	0	3	30					G	109805553	A	G	109805553	3	3	340	1	0	0	0	0	1	0	0	0	3222	275	10	3	4696	3	CELSR2	1	109805553	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08	96884148	109805553	139445068	2	32908											
WDR26	80232	broad.mit.edu	37	chr1	224619390	224619390	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccctactttaccttatcCcagtctccttccatgacatg	4	15	1	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:224619390C>T	ENST00000414423.2	-	2	709	c.516G>A	c.(514-516)tgG>tgA	p.W172*	WDR26_ENST00000295024.6_Nonsense_Mutation_p.W25*|WDR26_ENST00000366852.2_Nonsense_Mutation_p.W172*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	172	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTACCTTATCCCAGTCTCCTT	0.403																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(514-516)tgG>tgA		WD repeat domain 26							112	92	99					1																	224619390		2203	4300	6503	SO:0001587	stop_gained	80232					cytoplasm|nucleus		g.chr1:224619390C>T	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.516G>A	1.37:g.224619390C>T	ENSP00000408108:p.Trp172*					WDR26_ENST00000366852.2_Nonsense_Mutation_p.W172*|WDR26_ENST00000295024.6_Nonsense_Mutation_p.W25*	p.W172*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	2	709	-			172			CTLH.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	ENST00000414423.2	37	c.516G>A	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987570	0.93106	.	.	ENSG00000162923	ENST00000414423;ENST00000295024;ENST00000366852;ENST00000445239	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5944	0.95530	0.0:1.0:0.0:0.0	.	.	.	.	X	172;25;172;25	.	ENSP00000295024:W25X	W	-	3	0	WDR26	222686013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.627000	0.88993	0.563000	0.77884	TGG		0.403	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		3	45	0	0	0	0.004672	0	3	45					T	224619390	C	T	224619390	4	4	340	1	0	0	0	0	0	1	0	0	17280	624	22	2	1521	2	WDR26	1	224619390	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	114813837	224619390	24631231	3	32909											
STAMBP	10617	broad.mit.edu	37	chr2	74074536	74074536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaagcagaggaattggCccggaacatggccatccagc	14	10	0	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:74074536C>T	ENST00000394070.2	+	5	901	c.398C>T	c.(397-399)gCc>gTc	p.A133V	STAMBP_ENST00000394073.1_Missense_Mutation_p.A133V|STAMBP_ENST00000339566.3_Missense_Mutation_p.A133V|STAMBP_ENST00000536064.1_Missense_Mutation_p.A133V|STAMBP_ENST00000409707.1_Missense_Mutation_p.A133V	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	133	Glu-rich.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAGGAATTGGCCCGGAACATG	0.463																																						ENST00000394070.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						c.(397-399)gCc>gTc		STAM binding protein							47	48	48					2																	74074536		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74074536C>T	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.398C>T	2.37:g.74074536C>T	ENSP00000377633:p.Ala133Val					STAMBP_ENST00000536064.1_Missense_Mutation_p.A133V|STAMBP_ENST00000409707.1_Missense_Mutation_p.A133V|STAMBP_ENST00000339566.3_Missense_Mutation_p.A133V|STAMBP_ENST00000394073.1_Missense_Mutation_p.A133V	p.A133V	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN			5	901	+			133			Glu-rich.		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.398C>T	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732255	0.30684	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.49139	1.81;1.81;1.79;1.81;1.81;0.79	4.73	4.73	0.59995	.	0.115763	0.64402	D	0.000016	T	0.39462	0.1079	L	0.46157	1.445	0.58432	D	0.999997	B	0.27117	0.168	B	0.22386	0.039	T	0.18272	-1.0342	10	0.29301	T	0.29	-4.0336	12.8235	0.57707	0.0:0.8351:0.1649:0.0	.	133	O95630	STABP_HUMAN	V	133	ENSP00000344742:A133V;ENSP00000386548:A133V;ENSP00000413874:A133V;ENSP00000377636:A133V;ENSP00000377633:A133V;ENSP00000443502:A133V	ENSP00000344742:A133V	A	+	2	0	STAMBP	73928044	0.999000	0.42202	0.991000	0.47740	0.274000	0.26718	4.073000	0.57570	2.634000	0.89283	0.650000	0.86243	GCC		0.463	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		3	51	0	0	0	0.009096	0	3	51					T	74074536	C	T	74074536	3	4	340	1	0	0	0	0	1	0	0	0	15249	739	26	2	412	2	STAMBP	2	74074536	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		74074536	169124837	4	32910											
CTNNA2	1496	broad.mit.edu	37	chr2	80808942	80808942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgcagggcagagcgcaCgggtgagtggacacctaaga	15	9	1	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:80808942C>T	ENST00000402739.4	+	13	2010	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R348W|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R669W|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R703W|AC008067.2_ENST00000596887.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R669W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAGCGCACGGGTGAGTGG	0.493																																						ENST00000466387.1																			1	Substitution - Missense(1)	p.R669W(1)	large_intestine(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2005-2007)Cgg>Tgg		catenin (cadherin-associated protein), alpha 2							84	88	86					2																	80808942		2099	4207	6306	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80808942C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2005C>T	2.37:g.80808942C>T	ENSP00000384638:p.Arg669Trp					CTNNA2_ENST00000361291.4_Missense_Mutation_p.R703W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R669W|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R348W	p.R669W			P26232	CTNA2_HUMAN			18	2729	+			669					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2005C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173540	0.78452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.7	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.87097	2.86	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.76071	0.984;0.987;0.963;0.978	T	0.73770	-0.3878	9	.	.	.	.	14.5346	0.67950	0.6434:0.3566:0.0:0.0	.	301;669;669;669	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	W	669;669;703;669;669;669;348	ENSP00000418191:R669W;ENSP00000419295:R669W;ENSP00000355398:R703W;ENSP00000384638:R669W;ENSP00000444675:R669W;ENSP00000441705:R669W;ENSP00000341500:R348W	.	R	+	1	2	CTNNA2	80662453	0.492000	0.26027	1.000000	0.80357	0.988000	0.76386	1.171000	0.31896	0.680000	0.31366	0.650000	0.86243	CGG		0.493	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		20	30	0	0	0	0.008871	0	20	30					T	80808942	C	T	80808942	3	4	340	1	0	0	0	0	1	0	0	0	4013	527	19	1	1847	1	CTNNA2	2	80808942	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	6734406	80808942	162390431	5	32911											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	43	0	0	0	0.021523	0	21	43					T	209113112	C	T	209113112	3	4	340	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	128304170	209113112	34086261	6	32912											
ARL13B	200894	broad.mit.edu	37	chr3	93714764	93714764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgataatgctggtaaaaccGcaacagcaaagggaatccaa	9	8	0	1	rs139780924	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:93714764G>A	ENST00000394222.3	+	2	381	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.A36T|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	36					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGTAAAACCGCAACAGCAAA	0.299													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16302	0.0		0.0	False		,,,				2504	0.0					ENST00000394222.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(106-108)Gca>Aca		ADP-ribosylation factor-like 13B		G	THR/ALA,,,THR/ALA	3,4403	6.2+/-15.9	0,3,2200	64	70	68		106,,,106	4.8	1	3	dbSNP_134	68	0,8600		0,0,4300	yes	missense,intron,intron,missense	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	58,,,58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,,,possibly-damaging	36/429,,,36/429	93714764	3,13003	2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93714764G>A	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.106G>A	3.37:g.93714764G>A	ENSP00000377769:p.Ala36Thr					ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.A36T|ARL13B_ENST00000303097.7_Intron	p.A36T	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN			2	381	+			36					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.106G>A	CCDS2925.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	21.1	4.103257	0.76983	6.81E-4	0.0	ENSG00000169379	ENST00000478400;ENST00000394222;ENST00000471138	T;T	0.43688	0.94;0.94	5.64	4.76	0.60689	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	N	0.00219	-1.825	0.80722	D	1	B	0.31730	0.337	B	0.35312	0.2	T	0.38394	-0.9663	10	0.44086	T	0.13	-5.5594	14.9687	0.71217	0.0699:0.0:0.9301:0.0	.	36	Q3SXY8	AR13B_HUMAN	T	11;36;36	ENSP00000377769:A36T;ENSP00000420780:A36T	ENSP00000335400:A36T	A	+	1	0	ARL13B	95197454	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	6.751000	0.74893	2.660000	0.90430	0.655000	0.94253	GCA		0.299	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		13	22	0	0	0	0.020292	0	13	22					A	93714764	G	A	93714764	3	1	340	1	0	0	0	0	1	0	0	0	929	1087	38	1	112	1	ARL13B	3	93714764	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		93714764	104307666	7	32913											
BOC	91653	broad.mit.edu	37	chr3	112998818	112998818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatatcaccttcacggatgCggtcaatgagaccaccatca	7	12	4	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:112998818C>T	ENST00000495514.1	+	13	2872	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	BOC_ENST00000355385.3_Missense_Mutation_p.A723V|BOC_ENST00000273395.4_Missense_Mutation_p.A724V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	723	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCACGGATGCGGTCAATGAG	0.632																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2167-2169)gCg>gTg		BOC cell adhesion associated, oncogene regulated							56	50	52					3																	112998818		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998818C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2168C>T	3.37:g.112998818C>T	ENSP00000418663:p.Ala723Val					BOC_ENST00000273395.4_Missense_Mutation_p.A724V|BOC_ENST00000355385.3_Missense_Mutation_p.A723V	p.A723V			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		13	2872	+			723			Fibronectin type-III 3.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.2168C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078129	0.94000	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.53423	0.62;0.62;0.62	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	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	0.999;1.0;1.0	T	0.67673	-0.5610	10	0.32370	T	0.25	.	19.4493	0.94860	0.0:1.0:0.0:0.0	.	540;724;723	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	V	723;724;723	ENSP00000418663:A723V;ENSP00000273395:A724V;ENSP00000347546:A723V	ENSP00000273395:A724V	A	+	2	0	BOC	114481508	1.000000	0.71417	0.135000	0.22099	0.747000	0.42532	7.277000	0.78572	2.593000	0.87608	0.563000	0.77884	GCG		0.632	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		3	41	0	0	0	0.009096	0	3	41					T	112998818	C	T	112998818	3	4	340	1	0	0	0	0	1	0	0	0	1481	768	27	1	2210	1	BOC	3	112998818	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	19284054	112998818	85023612	8	32914											
HTT	3064	broad.mit.edu	37	chr4	3230369	3230369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacactccgtgtggctggggAacagcatcacacccctgagg	12	13	1	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr4:3230369A>G	ENST00000355072.5	+	58	8021	c.7876A>G	c.(7876-7878)Aac>Gac	p.N2626D		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2626					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCTGGGGAACAGCATCAC	0.642																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7876-7878)Aac>Gac		huntingtin							53	60	57					4																	3230369		2085	4191	6276	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3230369A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7876A>G	4.37:g.3230369A>G	ENSP00000347184:p.Asn2626Asp						p.N2626D	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	58	8021	+		all_epithelial(65;0.18)	2626					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.7876A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032101	0.75504	.	.	ENSG00000197386	ENST00000355072	T	0.67698	-0.28	5.02	5.02	0.67125	.	0.049336	0.85682	D	0.000000	T	0.61123	0.2322	L	0.56769	1.78	0.58432	D	0.999992	P	0.37688	0.605	B	0.30495	0.116	T	0.67273	-0.5712	10	0.62326	D	0.03	.	15.0373	0.71757	1.0:0.0:0.0:0.0	.	2626	P42858	HD_HUMAN	D	2626	ENSP00000347184:N2626D	ENSP00000347184:N2626D	N	+	1	0	HTT	3200167	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	8.655000	0.91098	2.031000	0.59945	0.460000	0.39030	AAC		0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		4	45	0	0	0	0.004482	0	4	45					G	3230369	A	G	3230369	3	3	340	1	0	0	0	0	1	0	0	0	7457	246	9	3	8106	3	HTT	4	3230369	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08		3230369	187923907	9	32915											
TRIO	7204	broad.mit.edu	37	chr5	14406753	14406753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccatcgcctcacggaCgtctcagaacacgctggaca	9	14	2	1	rs55687522		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:14406753C>T	ENST00000344204.4	+	33	4955	c.4931C>T	c.(4930-4932)aCg>aTg	p.T1644M	TRIO_ENST00000537187.1_Missense_Mutation_p.T1644M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1644			T -> M (in dbSNP:rs55687522). {ECO:0000269|PubMed:17344846}.		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)	p.T1644M(1)		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)					GCCTCACGGACGTCTCAGAAC	0.567																																						ENST00000344204.4																			1	Substitution - Missense(1)	p.T1644M(1)	endometrium(1)	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						c.(4930-4932)aCg>aTg		trio Rho guanine nucleotide exchange factor		C	MET/THR	0,4406		0,0,2203	111	98	102		4931	5.5	1	5	dbSNP_129	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIO	NM_007118.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1644/3098	14406753	1,13005	2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14406753C>T	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.4931C>T	5.37:g.14406753C>T	ENSP00000339299:p.Thr1644Met					TRIO_ENST00000537187.1_Missense_Mutation_p.T1644M	p.T1644M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			33	4955	+	Lung NSC(4;0.000742)		1644		T -> M (in dbSNP:rs55687522).			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4931C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952129	0.73787	0.0	1.16E-4	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.23147	1.92;1.92	5.47	5.47	0.80525	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.80764	0.923;0.994	T	0.31696	-0.9934	10	0.39692	T	0.17	.	19.3513	0.94387	0.0:1.0:0.0:0.0	rs55687522	1644;1644	O75962-5;O75962	.;TRIO_HUMAN	M	1644;1644;1331	ENSP00000339299:T1644M;ENSP00000446348:T1644M	ENSP00000339299:T1644M	T	+	2	0	TRIO	14459753	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.785000	0.85724	2.571000	0.86741	0.650000	0.86243	ACG		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		31	66	0	0	0	0.010818	0	31	66					T	14406753	C	T	14406753	3	4	340	1	0	0	0	0	1	0	0	0	16549	536	19	1	5061	1	TRIO	5	14406753	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		14406753	166508507	10	32916											
PCDHB7	56129	broad.mit.edu	37	chr5	140552718	140552718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgtggccccagagagcCctgtgtgctgcctttccagt	12	13	0	1	rs139238267	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:140552718C>T	ENST00000231137.3	+	1	476	c.302C>T	c.(301-303)cCc>cTc	p.P101L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	101	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)	p.P101H(1)		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)			CCCAGAGAGCCCTGTGTGCTG	0.443													C|||	9	0.00179712	0.0	0.0	5008	,	,		17815	0.0089		0.0	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - Missense(1)	p.P101H(1)	lung(1)	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						c.(301-303)cCc>cTc				C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	82	87	85		302	3.7	1	5	dbSNP_134	85	0,8600		0,0,4300	yes	missense	PCDHB7	NM_018940.2	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	101/794	140552718	2,13004	2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552718C>T	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.302C>T	5.37:g.140552718C>T	ENSP00000231137:p.Pro101Leu						p.P101L	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	476	+			101			Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.302C>T	CCDS4249.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	14.98	2.698016	0.48307	4.54E-4	0.0	ENSG00000113212	ENST00000231137	T	0.29917	1.55	4.61	3.72	0.42706	Cadherin, N-terminal (1);	.	.	.	.	T	0.42539	0.1207	M	0.64676	1.99	0.42584	D	0.993222	D	0.63046	0.992	D	0.74348	0.983	T	0.51624	-0.8682	9	0.72032	D	0.01	.	13.2502	0.60048	0.0:0.9162:0.0:0.0838	.	101	Q9Y5E2	PCDB7_HUMAN	L	101	ENSP00000231137:P101L	ENSP00000231137:P101L	P	+	2	0	PCDHB7	140532902	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.521000	0.22893	2.248000	0.74166	0.655000	0.94253	CCC		0.443	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	102	0	0	0	0.001168	0	4	102					T	140552718	C	T	140552718	3	4	340	1	0	0	0	0	1	0	0	0	11547	623	22	2	304	2	PCDHB7	5	140552718	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	126145965	140552718	40362542	11	32917											
RREB1	6239	broad.mit.edu	37	chr6	7240706	7240706	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaaaatgcgatgccTtcttttctaccaaatctaac	4	11	4	0			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:7240706T>A	ENST00000349384.6	+	11	4122				RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.F1282I|RREB1_ENST00000379938.2_Missense_Mutation_p.F1282I	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						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)				ATGCGATGCCTTCTTTTCTAC	0.423																																						ENST00000379938.2																			0				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						c.(3844-3846)Ttc>Atc		ras responsive element binding protein 1							123	119	120					6																	7240706		2203	4300	6503	SO:0001627	intron_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7240706T>A	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.3809-5951T>A	6.37:g.7240706T>A						RREB1_ENST00000334984.6_Missense_Mutation_p.F1282I|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron	p.F1282I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			11	4381	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1272					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3844T>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262869	0.59431	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	T;T	0.18016	2.24;2.24	5.17	5.17	0.71159	.	.	.	.	.	T	0.09247	0.0228	L	0.53249	1.67	0.35993	D	0.836838	B;B	0.24426	0.103;0.103	B;B	0.26202	0.042;0.067	T	0.05007	-1.0912	9	0.44086	T	0.13	-22.602	10.9321	0.47224	0.1403:0.0:0.0:0.8597	.	1282;1282	Q92766-3;Q92766-2	.;.	I	1282	ENSP00000369270:F1282I;ENSP00000335574:F1282I	ENSP00000335574:F1282I	F	+	1	0	RREB1	7185705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.364000	0.52328	2.167000	0.68274	0.528000	0.53228	TTC		0.423	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			31	92	0	0	0	0.019004	0	31	92					A	7240706	T	A	7240706	1	1	340	0	1	0	0	0	0	0	0	0	13679	1609	56	5		5	RREB1	6	7240706	Intron	SNP	T	TCGA-HW-7495-01A-11D-2024-08		7240706	163874361	12	32918											
DNAH11	8701	broad.mit.edu	37	chr7	21639635	21639635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctagacagagaggctggGgatggcttctatgatcttgt	13	8	2	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:21639635G>A	ENST00000409508.3	+	15	2929	c.2898G>A	c.(2896-2898)ggG>ggA	p.G966G	DNAH11_ENST00000328843.6_Silent_p.G966G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	966	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAGGCTGGGGATGGCTTCT	0.393									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2896-2898)ggG>ggA		dynein, axonemal, heavy chain 11							63	60	61					7																	21639635		1837	4093	5930	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639635G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2898G>A	7.37:g.21639635G>A						DNAH11_ENST00000409508.3_Silent_p.G966G	p.G966G			Q96DT5	DYH11_HUMAN			15	2929	+			966			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2898G>A																																																																																					0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	46	0	0	0	0.009096	0	4	46					A	21639635	G	A	21639635	2	1	340	1	0	0	0	0	0	0	0	1	4599	1219	43	2		2	DNAH11	7	21639635	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		21639635	137499028	13	32919											
AEBP1	165	broad.mit.edu	37	chr7	44153669	44153669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgacagagtttgggaccGaggtggagcccgagtttggg	19	6	0	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:44153669G>A	ENST00000223357.3	+	21	3591	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K	AEBP1_ENST00000450684.2_Missense_Mutation_p.E671K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1096	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {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						GTTTGGGACCGAGGTGGAGCC	0.597																																						ENST00000223357.3																			0				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						c.(3286-3288)Gag>Aag		AE binding protein 1							132	126	128					7																	44153669		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153669G>A	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.3286G>A	7.37:g.44153669G>A	ENSP00000223357:p.Glu1096Lys					AEBP1_ENST00000450684.2_Missense_Mutation_p.E671K	p.E1096K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3591	+			1096			Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3286G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868279	0.51588	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95238	-3.65;-3.01	1.19	1.19	0.21007	.	2.102790	0.02240	N	0.065662	D	0.94231	0.8148	L	0.32530	0.975	0.25593	N	0.986676	D;D	0.59767	0.986;0.976	P;P	0.56960	0.81;0.651	D	0.85367	0.1111	10	0.62326	D	0.03	.	7.8017	0.29178	0.0:0.0:1.0:0.0	.	671;1096	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	K	1096;671	ENSP00000223357:E1096K;ENSP00000398878:E671K	ENSP00000223357:E1096K	E	+	1	0	AEBP1	44120194	0.998000	0.40836	0.947000	0.38551	0.454000	0.32378	6.061000	0.71148	0.556000	0.29098	0.563000	0.77884	GAG		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		4	53	0	0	0	0.014758	0	4	53					A	44153669	G	A	44153669	3	1	340	1	0	0	0	0	1	0	0	0	349	1059	37	1	3368	1	AEBP1	7	44153669	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	22514034	44153669	114984994	14	32920											
CADPS2	93664	broad.mit.edu	37	chr7	122130306	122130306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtatctccttctttaacagCattaaagaacatacaaccac	3	11	2	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:122130306C>A	ENST00000449022.2	-	11	1700	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000412584.2_Missense_Mutation_p.A561S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A561S|CADPS2_ENST00000334010.7_Missense_Mutation_p.A561S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TCTTTAACAGCATTAAAGAAC	0.378																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(1681-1683)Gct>Tct		Ca++-dependent secretion activator 2							144	137	139					7																	122130306		1865	4104	5969	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122130306C>A		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.1681G>T	7.37:g.122130306C>A	ENSP00000398481:p.Ala561Ser					CADPS2_ENST00000313070.7_Missense_Mutation_p.A561S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A561S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A561S	p.A561S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			11	2102	-			561			PH.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1681G>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.412639|4.412639	0.83340|0.83340	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.74632|.	-0.86;-0.86;-0.86;-0.86|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78149|0.78149	0.4238|0.4238	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;B;P|.	0.47545|.	0.793;0.122;0.897|.	D;B;D|.	0.78314|.	0.937;0.331;0.991|.	T|T	0.78788|0.78788	-0.2067|-0.2067	10|5	0.72032|.	D|.	0.01|.	-14.09|-14.09	18.8508|18.8508	0.92227|0.92227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	561;561;561|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	S|F	561;561;561;528;561;561|209	ENSP00000325581:A561S;ENSP00000333940:A561S;ENSP00000400401:A561S;ENSP00000398481:A561S|.	ENSP00000325581:A561S|.	A|C	-|-	1|2	0|0	CADPS2|CADPS2	121917542|121917542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.882000|4.882000	0.63121|0.63121	2.446000|2.446000	0.82766|0.82766	0.491000|0.491000	0.48974|0.48974	GCT|TGC		0.378	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		16	160	1	0	2.94398e-08	0.007413	3.06926e-08	16	160					A	122130306	C	A	122130306	3	1	340	1	0	0	0	0	1	0	0	0	2571	710	25	4	2333	4	CADPS2	7	122130306	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	77976637	122130306	37008357	15	32921											
DOCK8	81704	broad.mit.edu	37	chr9	289509	289509	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcattttctacctcattaGggttgaactggaccctcatg	7	10	4	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr9:289509G>A	ENST00000453981.1	+	4	444		c.e4-1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000432829.2_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						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)		TACCTCATTAGGGTTGAACTG	0.388																																						ENST00000432829.2																			0				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						c.e4-1		dedicator of cytokinesis 8							198	194	195					9																	289509		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:289509G>A	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.333-1G>A	9.37:g.289509G>A						DOCK8_ENST00000453981.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site		NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	4	444	+		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)						A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37		CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321064	0.81580	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4403	0.90664	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	279509	1.000000	0.71417	0.995000	0.50966	0.832000	0.47134	8.499000	0.90494	2.861000	0.98227	0.655000	0.94253	.		0.388	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Intron	4	30	0	0	0	0.014758	0	4	30					A	289509	G	A	289509	5	1	340	1	0	0	0	0	0	0	1	0	4693	1014	35	2	346	2	DOCK8	9	289509	Splice_Site	SNP	G	TCGA-HW-7495-01A-11D-2024-08		289509	140923922	16	32922											
MUC2	4583	broad.mit.edu	37	chr11	1103827	1103827	+	Frame_Shift_Del	DEL	C	C	-													aggcacccctcgcaatgagaCcagggtgccctgctccaccg							TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:1103827delC	ENST00000441003.2	+	48	8153	c.8126delC	c.(8125-8127)accfs	p.T2709fs		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5071					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)	CGCAATGAGACCAGGGTGCCC	0.672																																						ENST00000441003.2																			0				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						c.(8125-8127)acfs		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						16	18	17					11																	1103827		1961	4055	6016	SO:0001589	frameshift_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1103827delC	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.8126delC	11.37:g.1103827delC	ENSP00000415183:p.Thr2709fs						p.T2709fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	48	8153	+		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)	5071					Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37	c.8126delC																																																																																					0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	4						2	4	---	---	---	---	-	1103827	C	-	1103827	7	5	340	1	0	1	0	1	0	0	0	0	9975	507	18	0	8308	0	MUC2	11	1103827	Frame_Shift_Del	DEL	C	TCGA-HW-7495-01A-11D-2024-08		1103827	133902689	17	32923											
TRIM22	10346	broad.mit.edu	37	chr11	5730667	5730667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactcctcctcttctgatcCcaaggttttgactctcttta	6	13	3	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:5730667C>T	ENST00000379965.3	+	8	1563	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	429	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|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)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTTCTGATCCCAAGGTTTTG	0.413																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1285-1287)cCc>cTc		tripartite motif containing 22							95	103	100					11																	5730667		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730667C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1286C>T	11.37:g.5730667C>T	ENSP00000369299:p.Pro429Leu					TRIM5_ENST00000380027.1_Intron	p.P429L	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1563	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	429			B30.2/SPRY.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.1286C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754637	0.31046	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.69306	-0.39	3.22	2.31	0.28768	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.66056	0.2751	M	0.81497	2.545	0.09310	N	1	B;B;B	0.17038	0.001;0.016;0.02	B;B;B	0.25291	0.004;0.035;0.059	T	0.60796	-0.7192	9	0.52906	T	0.07	.	6.6146	0.22771	0.0:0.8662:0.0:0.1338	.	351;425;429	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	L	429;240;351	ENSP00000369299:P429L	ENSP00000369299:P429L	P	+	2	0	TRIM22	5687243	0.000000	0.05858	0.001000	0.08648	0.198000	0.23893	0.311000	0.19380	0.942000	0.37525	-0.444000	0.05651	CCC		0.413	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		5	153	0	0	0	0.014758	0	5	153					T	5730667	C	T	5730667	3	4	340	1	0	0	0	0	1	0	0	0	16493	623	22	2	1312	2	TRIM22	11	5730667	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	4626840	5730667	129275849	18	32924											
PRDM10	56980	broad.mit.edu	37	chr11	129817095	129817095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccagtcatccagatcCgtgtcctcaccgtcttcttc	7	17	4	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:129817095C>T	ENST00000360871.3	-	5	696	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_ENST00000304538.6_Silent_p.T69T|PRDM10_ENST00000358825.5_Silent_p.T155T|PRDM10_ENST00000528746.1_Silent_p.T129T|PRDM10_ENST00000526082.1_Silent_p.T69T|PRDM10_ENST00000423662.2_Silent_p.T69T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	155					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)	p.T155T(1)		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)		CATCCAGATCCGTGTCCTCAC	0.597																																						ENST00000358825.5																			1	Substitution - coding silent(1)	p.T155T(1)	kidney(1)	breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(463-465)acG>acA		PR domain containing 10							292	165	208					11																	129817095		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129817095C>T	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.465G>A	11.37:g.129817095C>T						PRDM10_ENST00000304538.6_Silent_p.T69T|PRDM10_ENST00000423662.2_Silent_p.T69T|PRDM10_ENST00000526082.1_Silent_p.T69T|PRDM10_ENST00000528746.1_Silent_p.T129T|PRDM10_ENST00000360871.3_Silent_p.T155T	p.T155T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	5	696	-	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)	155					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.465G>A	CCDS8484.1																																																																																				0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		25	64	0	0	0	0.005443	0	25	64					T	129817095	C	T	129817095	2	4	340	1	0	0	0	0	0	0	0	1	12451	639	23	1		1	PRDM10	11	129817095	Silent	SNP	C	TCGA-HW-7495-01A-11D-2024-08	124086428	129817095	5189421	19	32925											
KCNH5	27133	broad.mit.edu	37	chr14	63269245	63269245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcattaaaaaccttccGgtttagatgaacacagatat	6	7	1	3	rs543742412	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:63269245G>A	ENST00000322893.7	-	9	1892	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KCNH5_ENST00000394968.1_Missense_Mutation_p.R484W|KCNH5_ENST00000420622.2_Missense_Mutation_p.R542W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	542					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)		AAAACCTTCCGGTTTAGATGA	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		21565	0.002		0.0	False		,,,				2504	0.0					ENST00000322893.7																			0				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						c.(1624-1626)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 5							53	55	54					14																	63269245		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269245G>A	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.1624C>T	14.37:g.63269245G>A	ENSP00000321427:p.Arg542Trp					KCNH5_ENST00000394968.1_Missense_Mutation_p.R484W|KCNH5_ENST00000420622.2_Missense_Mutation_p.R542W	p.R542W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1892	-			542					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1624C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675978	0.67928	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.15	4.24	0.50183	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.058112	0.64402	D	0.000002	D	0.98223	0.9412	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.98917	1.0782	10	0.87932	D	0	.	12.9337	0.58301	0.0:0.0:0.7047:0.2953	.	484;542;542	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	W	542;542;484	ENSP00000321427:R542W;ENSP00000395439:R542W;ENSP00000378419:R484W	ENSP00000321427:R542W	R	-	1	2	KCNH5	62338998	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.802000	0.27069	1.274000	0.44362	0.563000	0.77884	CGG		0.493	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		5	62	0	0	0	0.001984	0	5	62					A	63269245	G	A	63269245	3	1	340	1	0	0	0	0	1	0	0	0	8035	1115	39	1	1388	1	KCNH5	14	63269245	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		63269245	44080295	20	32926											
CRLF3	51379	broad.mit.edu	37	chr17	29112983	29112983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctgcagagagtcataTccatcctgtttttctgcaca	7	13	2	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr17:29112983T>C	ENST00000324238.6	-	7	1150	c.1026A>G	c.(1024-1026)ggA>ggG	p.G342G	CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Silent_p.G226G	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	342					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GAGAGTCATATCCATCCTGTT	0.363																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1024-1026)ggA>ggG		cytokine receptor-like factor 3							195	173	181					17																	29112983		2203	4300	6503	SO:0001819	synonymous_variant	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29112983T>C	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1026A>G	17.37:g.29112983T>C						CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Silent_p.G226G	p.G342G	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			7	1150	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	342					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Silent	SNP	ENST00000324238.6	37	c.1026A>G	CCDS32607.1																																																																																				0.363	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			12	104	0	0	0	0.016723	0	12	104					C	29112983	T	C	29112983	2	2	340	1	0	0	0	0	0	0	0	1	3888	1422	50	3		3	CRLF3	17	29112983	Silent	SNP	T	TCGA-HW-7495-01A-11D-2024-08		29112983	52082227	21	32927											
NWD1	284434	broad.mit.edu	37	chr19	16874671	16874671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgtggttctcacatacGgttgcaaacctgcggaagct	10	12	2	0	rs117965437	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:16874671G>A	ENST00000552788.1	+	7	2166	c.2166G>A	c.(2164-2166)acG>acA	p.T722T	NWD1_ENST00000379808.3_Silent_p.T722T|NWD1_ENST00000523826.1_Silent_p.T516T|NWD1_ENST00000524140.2_Silent_p.T722T|NWD1_ENST00000339803.6_Silent_p.T587T|NWD1_ENST00000549814.1_Silent_p.T722T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	722							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						TCTCACATACGGTTGCAAACC	0.592													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20404	0.002		0.0	False		,,,				2504	0.0					ENST00000524140.2																			0				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						c.(2164-2166)acG>acA		NACHT and WD repeat domain containing 1							91	81	84					19																	16874671		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16874671G>A	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.2166G>A	19.37:g.16874671G>A						NWD1_ENST00000339803.6_Silent_p.T587T|NWD1_ENST00000552788.1_Silent_p.T722T|NWD1_ENST00000549814.1_Silent_p.T722T|NWD1_ENST00000523826.1_Silent_p.T516T|NWD1_ENST00000379808.3_Silent_p.T722T	p.T722T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			9	2584	+			722					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2166G>A																																																																																					0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		4	57	0	0	0	0.014758	0	4	57					A	16874671	G	A	16874671	2	1	340	1	0	0	0	0	0	0	0	1	10781	1103	39	1		1	NWD1	19	16874671	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		16874671	42254312	22	32928											
BAX	581	broad.mit.edu	37	chr19	49459501	49459501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgagaggtctttttcCgagtggcagctgacatgttt	11	12	1	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:49459501C>T	ENST00000345358.7	+	4	332	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BAX_ENST00000293288.8_Nonsense_Mutation_p.R94*|BAX_ENST00000354470.3_Nonsense_Mutation_p.R45*|BAX_ENST00000539787.1_Nonsense_Mutation_p.R94*|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Nonsense_Mutation_p.R94*	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	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)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|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)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R94*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		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;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTCTTTTTCCGAGTGGCAGC	0.587																																						ENST00000293288.8																			1	Substitution - Nonsense(1)	p.R94*(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17						c.(280-282)Cga>Tga		BCL2-associated X protein							74	80	78					19																	49459501		2203	4300	6503	SO:0001587	stop_gained	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49459501C>T		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.280C>T	19.37:g.49459501C>T	ENSP00000263262:p.Arg94*					BAX_ENST00000415969.2_Nonsense_Mutation_p.R94*|BAX_ENST00000539787.1_Nonsense_Mutation_p.R94*|BAX_ENST00000354470.3_Nonsense_Mutation_p.R45*|BAX_ENST00000345358.7_Nonsense_Mutation_p.R94*|BAX_ENST00000391871.3_3'UTR	p.R94*	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	4	280	+		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)	94					A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Nonsense_Mutation	SNP	ENST00000345358.7	37	c.280C>T	CCDS12742.1	.	.	.	.	.	.	.	.	.	.	C	36	5.874716	0.97055	.	.	ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	.	.	.	4.05	2.98	0.34508	.	0.138090	0.47093	D	0.000248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8395	8.985	0.35988	0.2202:0.7798:0.0:0.0	.	.	.	.	X	94;94;94;45;94	.	ENSP00000293288:R94X	R	+	1	2	BAX	54151313	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.017000	0.40981	1.228000	0.43614	0.563000	0.77884	CGA		0.587	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		10	79	0	0	0	0.008291	0	10	79					T	49459501	C	T	49459501	4	4	340	1	0	0	0	0	0	1	0	0	1328	644	23	1	294	1	BAX	19	49459501	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	32584830	49459501	9669482	23	32929											
ZNF579	163033	broad.mit.edu	37	chr19	56090218	56090218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcttggggcgtggcgggGgccccccttccccttcctgt	15	16	0	0			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:56090218G>A	ENST00000325421.4	-	2	816	c.788C>T	c.(787-789)cCc>cTc	p.P263L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCGTGGCGGGGGCCCCCCTTC	0.716																																						ENST00000325421.4																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(787-789)cCc>cTc		zinc finger protein 579							16	21	19					19																	56090218		2199	4295	6494	SO:0001583	missense	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56090218G>A	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"Zinc fingers, C2H2-type"	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.788C>T	19.37:g.56090218G>A	ENSP00000320188:p.Pro263Leu						p.P263L	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	816	-			263						Missense_Mutation	SNP	ENST00000325421.4	37	c.788C>T	CCDS12927.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671035	0.29693	.	.	ENSG00000218891	ENST00000325421	T	0.07444	3.19	3.08	3.08	0.35506	.	.	.	.	.	T	0.05273	0.0140	N	0.14661	0.345	0.09310	N	0.999999	B	0.22346	0.068	B	0.20767	0.031	T	0.28038	-1.0056	9	0.87932	D	0	.	6.1955	0.20548	0.1431:0.0:0.8569:0.0	.	263	Q8NAF0	ZN579_HUMAN	L	263	ENSP00000320188:P263L	ENSP00000320188:P263L	P	-	2	0	ZNF579	60782030	0.999000	0.42202	0.299000	0.25016	0.212000	0.24457	2.256000	0.43231	1.740000	0.51718	0.561000	0.74099	CCC		0.716	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		5	3	0	0	0	0.014758	0	5	3					A	56090218	G	A	56090218	3	1	340	1	0	0	0	0	1	0	0	0	18008	1232	43	2	904	2	ZNF579	19	56090218	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	6630717	56090218	3038765	24	32930											
SH3KBP1	30011	broad.mit.edu	37	chrX	19764444	19764444	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccatacctctcttaTtggttcttaaaatcgtttca	3	11	3	0			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:19764444T>A	ENST00000397821.3	-	3	568	c.278A>T	c.(277-279)aAt>aTt	p.N93I	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.N93I|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.N56I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	93					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						ACCTCTCTTATTGGTTCTTAA	0.423																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(277-279)aAt>aTt		SH3-domain kinase binding protein 1							119	109	112					X																	19764444		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19764444T>A	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.278A>T	X.37:g.19764444T>A	ENSP00000380921:p.Asn93Ile					SH3KBP1_ENST00000379698.4_Missense_Mutation_p.N56I|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.N93I	p.N93I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			3	568	-			93					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.278A>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339559	0.41398	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.50001	1.42;1.49;1.28;1.06;0.76	5.84	4.69	0.59074	.	1.003210	0.08025	N	0.992588	T	0.39627	0.1085	L	0.54323	1.7	0.80722	D	1	B;P	0.46512	0.201;0.879	B;B	0.37198	0.1;0.243	T	0.47275	-0.9130	10	0.49607	T	0.09	-16.2752	4.7177	0.12903	0.0:0.0961:0.1914:0.7125	.	93;56	Q96B97;Q5JPT5	SH3K1_HUMAN;.	I	34;93;56;29;93;40	ENSP00000380921:N93I;ENSP00000369020:N56I;ENSP00000369049:N29I;ENSP00000369019:N93I;ENSP00000388766:N40I	ENSP00000369019:N93I	N	-	2	0	SH3KBP1	19674365	0.996000	0.38824	0.979000	0.43373	0.993000	0.82548	1.489000	0.35562	1.957000	0.56846	0.486000	0.48141	AAT		0.423	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		55	75	0	0	0	0.01441	0	55	75					A	19764444	T	A	19764444	3	1	340	1	0	0	0	0	1	0	0	0	14255	1493	52	5	1799	5	SH3KBP1	23	19764444	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		19764444	135506116	25	32931											
WDR44	54521	broad.mit.edu	37	chrX	117527112	117527112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagcctgttccagcacGcccacctcctccaactaatt	5	16	0	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:117527112G>A	ENST00000254029.3	+	4	1099	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.R235H|WDR44_ENST00000371822.5_Missense_Mutation_p.R210H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	235	Pro-rich.					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						GTTCCAGCACGCCCACCTCCT	0.522																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(703-705)cGc>cAc		WD repeat domain 44							116	109	111					X																	117527112		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527112G>A	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.704G>A	X.37:g.117527112G>A	ENSP00000254029:p.Arg235His					WDR44_ENST00000371825.3_Missense_Mutation_p.R235H|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.R210H	p.R235H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			4	1099	+			235			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.704G>A	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371043	0.82573	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.78364	-1.17;-0.55;-0.42	5.51	5.51	0.81932	.	0.057212	0.64402	D	0.000001	D	0.83308	0.5226	L	0.34521	1.04	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.988;0.964	D	0.84826	0.0799	10	0.59425	D	0.04	-13.3787	18.4598	0.90735	0.0:0.0:1.0:0.0	.	210;235;235	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	H	210;235;235	ENSP00000360887:R210H;ENSP00000254029:R235H;ENSP00000360890:R235H	ENSP00000254029:R235H	R	+	2	0	WDR44	117411140	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	9.414000	0.97362	2.301000	0.77427	0.600000	0.82982	CGC		0.522	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		91	191	0	0	0	0.01441	0	91	191					A	117527112	G	A	117527112	3	1	340	1	0	0	0	0	1	0	0	0	17293	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	97762668	117527112	37743448	26	32932											
IGSF1	3547	broad.mit.edu	37	chrX	130412511	130412511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggcagtggtagctcccGgtgtggctctgggtcagggc	18	9	2	0	rs150559043		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:130412511G>A	ENST00000361420.3	-	12	2044	c.1965C>T	c.(1963-1965)acC>acT	p.T655T	IGSF1_ENST00000370903.3_Silent_p.T660T|IGSF1_ENST00000370910.1_Silent_p.T646T|IGSF1_ENST00000370904.1_Silent_p.T646T|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	655	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						GGTAGCTCCCGGTGTGGCTCT	0.627																																						ENST00000370904.1																			0				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						c.(1936-1938)acC>acT		immunoglobulin superfamily, member 1			,,	0,3835		0,0,1632,571	56	58	58		1980,1938,1965	-0.8	0.3	X	dbSNP_134	58	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	IGSF1	NM_001170961.1,NM_001170962.1,NM_001555.4	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	660/1342,646/1328,655/1337	130412511	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412511G>A	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.1965C>T	X.37:g.130412511G>A						IGSF1_ENST00000370903.3_Silent_p.T660T|IGSF1_ENST00000361420.3_Silent_p.T655T|IGSF1_ENST00000370910.1_Silent_p.T646T	p.T646T			Q8N6C5	IGSF1_HUMAN			18	2848	-			655			Ig-like C2-type 6.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1938C>T	CCDS14629.1																																																																																				0.627	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			5	120	0	0	0	0.014758	0	5	120					A	130412511	G	A	130412511	2	1	340	1	0	0	0	0	0	0	0	1	7596	1103	39	1		1	IGSF1	23	130412511	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08	12885399	130412511	24858049	27	32933											
HIVEP3	59269	broad.mit.edu	37	chr1	41978828	41978828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccacaagggagagcgcCcatgccccttcctgggtcca	11	16	0	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	ENST00000372583.1	-	8	6949	c.6064G>A	c.(6064-6066)Ggc>Agc	p.G2022S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2022S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2022S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2022S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2022					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)				GGGAGAGCGCCCATGCCCCTT	0.632																																						ENST00000372584.1																			0				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						c.(6064-6066)Ggc>Agc		human immunodeficiency virus type I enhancer binding protein 3							40	46	44					1																	41978828		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978828C>T	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.6064G>A	1.37:g.41978828C>T	ENSP00000361664:p.Gly2022Ser					HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2022S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2022S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2022S|HIVEP3_ENST00000460604.1_5'UTR	p.G2022S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			7	7078	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2022					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6064G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.597933	0.00857	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.03745	3.85;3.82;3.82;3.85	2.9	0.614	0.17603	.	0.841393	0.10211	N	0.702111	T	0.01765	0.0056	N	0.04880	-0.145	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	T	0.49542	-0.8929	10	0.13853	T	0.58	-1.4287	5.7914	0.18363	0.3029:0.5781:0.0:0.119	.	2022;2022	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	2022	ENSP00000361665:G2022S;ENSP00000361664:G2022S;ENSP00000247584:G2022S;ENSP00000410828:G2022S	ENSP00000247584:G2022S	G	-	1	0	HIVEP3	41751415	0.022000	0.18835	0.001000	0.08648	0.002000	0.02628	0.127000	0.15790	0.490000	0.27771	0.655000	0.94253	GGC		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		31	38	0	0	0	1	0	31	38					T	41978828	C	T	41978828	3	4	341	1	0	0	0	0	1	0	0	0	7188	623	22	2	1164	2	HIVEP3	1	41978828	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		41978828	207271793	1	32934											
CD1E	913	broad.mit.edu	37	chr1	158325319	158325319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccctcgatttctagcGgggctcatggaagcagggga	14	11	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:158325319G>A	ENST00000368167.3	+	3	824	c.585G>A	c.(583-585)gcG>gcA	p.A195A	CD1E_ENST00000434258.1_Silent_p.A193A|CD1E_ENST00000368163.3_Silent_p.A195A|CD1E_ENST00000444681.2_Silent_p.A96A|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Silent_p.A195A|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Silent_p.A195A	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	195	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATTTCTAGCGGGGCTCATGG	0.478																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(286-288)gcG>gcA		CD1e molecule							44	45	45					1																	158325319		1909	4127	6036	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325319G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.585G>A	1.37:g.158325319G>A						CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000434258.1_Silent_p.A193A|CD1E_ENST00000368167.3_Silent_p.A195A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.A195A|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368160.3_Silent_p.A195A|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Silent_p.A195A|CD1E_ENST00000368165.3_Intron	p.A96A	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	581	+	all_hematologic(112;0.0378)		195					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.288G>A	CCDS41417.1																																																																																				0.478	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		3	31	0	0	0	1	0	3	31					A	158325319	G	A	158325319	2	1	341	1	0	0	0	0	0	0	0	1	2978	1103	39	1		1	CD1E	1	158325319	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	116346491	158325319	90925302	2	32935											
OR2T1	26696	broad.mit.edu	37	chr1	248570030	248570030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagacacagccctctaCgagacagtgatgtatgtgtg	12	9	1	3	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	ENST00000366474.1	+	1	735	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245						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)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CAGCCCTCTACGAGACAGTGA	0.493																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(733-735)taC>taT		olfactory receptor, family 2, subfamily T, member 1		T		1,4405	826.1+/-416.6	0,1,2202	215	186	196		735	-8.3	0	1	dbSNP_134	196	0,8600		0,0,4300	no	coding-synonymous	OR2T1	NM_030904.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/370	248570030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570030C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.735C>T	1.37:g.248570030C>T							p.Y245Y	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	735	+	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)		245					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.735C>T	CCDS31115.1																																																																																				0.493	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			33	45	0	0	0	1	0	33	45					T	248570030	C	T	248570030	2	4	341	1	0	0	0	0	0	0	0	1	11016	547	19	1		1	OR2T1	1	248570030	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08	90244711	248570030	680591	3	32936											
APOB	338	broad.mit.edu	37	chr2	21226157	21226157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcctcatcagattccCggaccctcaactcagttttg	7	13	4	1	rs149273387	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	ENST00000233242.1	-	29	12264	c.12137G>A	c.(12136-12138)cGg>cAg	p.R4046Q	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4046					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)					ATCAGATTCCCGGACCCTCAA	0.408																																						ENST00000233242.1																			0				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						c.(12136-12138)cGg>cAg		apolipoprotein B	Atorvastatin(DB01076)	C	GLN/ARG	0,4406		0,0,2203	209	235	226		12137	-6.1	0	2	dbSNP_134	226	1,8599		0,1,4299	no	missense	APOB	NM_000384.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4046/4564	21226157	1,13005	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21226157C>T	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.12137G>A	2.37:g.21226157C>T	ENSP00000233242:p.Arg4046Gln						p.R4046Q	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4046					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12137G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178210	0.09443	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.30981	1.51	5.39	-6.07	0.02158	.	1.950710	0.02199	N	0.062070	T	0.11707	0.0285	N	0.04508	-0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.11616	-1.0580	10	0.28530	T	0.3	.	2.6658	0.05049	0.0931:0.2913:0.1917:0.4239	.	4046	P04114	APOB_HUMAN	Q	4046	ENSP00000233242:R4046Q	ENSP00000233242:R4046Q	R	-	2	0	APOB	21079662	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.132000	0.10467	-0.941000	0.03700	-1.202000	0.01658	CGG		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			110	214	0	0	0	1	0	110	214					T	21226157	C	T	21226157	3	4	341	1	0	0	0	0	1	0	0	0	785	652	23	1	1558	1	APOB	2	21226157	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		21226157	221973216	4	32937											
SCN2A	6326	broad.mit.edu	37	chr2	166211024	166211024	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactagtggcataggcagcaGtgtagaaaaatatgtcgtgg	13	5	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	ENST00000375437.2	+	17	3532	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1081T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1081T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1081T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1081					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)	ATAGGCAGCAGTGTAGAAAAA	0.388																																						ENST00000375437.2																			0				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						c.(3241-3243)aGt>aCt		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						106	105	105					2																	166211024		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166211024G>C	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.3242G>C	2.37:g.166211024G>C	ENSP00000364586:p.Ser1081Thr					SCN2A_ENST00000375427.2_Missense_Mutation_p.S1081T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1081T|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1081T	p.S1081T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			17	3532	+			1081					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3242G>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767808	0.49574	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.26	5.26	0.73747	Sodium ion transport-associated (1);	0.155104	0.46145	D	0.000305	D	0.91147	0.7212	M	0.75085	2.285	0.44201	D	0.997025	B;D	0.61080	0.091;0.989	B;D	0.83275	0.115;0.996	D	0.91698	0.5371	10	0.62326	D	0.03	.	18.858	0.92260	0.0:0.0:1.0:0.0	.	1081;1081	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1081	ENSP00000364586:S1081T;ENSP00000349973:S1081T;ENSP00000283256:S1081T;ENSP00000364576:S1081T	ENSP00000283256:S1081T	S	+	2	0	SCN2A	165919270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.111000	0.71541	2.447000	0.82792	0.591000	0.81541	AGT		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		29	49	0	0	0	1	0	29	49					C	166211024	G	C	166211024	3	2	341	1	0	0	0	0	1	0	0	0	13916	1029	36	4	3400	4	SCN2A	2	166211024	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	144984867	166211024	76988349	5	32938											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	44	0	0	0	1	0	26	44					T	209113112	C	T	209113112	3	4	341	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	42902088	209113112	34086261	6	32939											
ANKRD28	23243	broad.mit.edu	37	chr3	15719776	15719776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtgttttccctgtagagtCcacagaattgacttgagcat	10	8	0	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	ENST00000399451.2	-	24	2924	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D886N|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	853						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGTAGAGTCCACAGAATTG	0.398																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2557-2559)Gac>Aac		ankyrin repeat domain 28							107	99	102					3																	15719776		1878	4122	6000	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15719776C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2557G>A	3.37:g.15719776C>T	ENSP00000382379:p.Asp853Asn					ANKRD28_ENST00000383777.1_Missense_Mutation_p.D886N|ANKRD28_ENST00000497037.1_5'UTR	p.D853N	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			24	2924	-			853					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2557G>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159820	0.94727	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.17054	2.33;2.3;2.33	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.56396	1.775	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.04440	-1.0951	10	0.49607	T	0.09	.	19.2979	0.94131	0.0:1.0:0.0:0.0	.	853	O15084	ANR28_HUMAN	N	853;886;853	ENSP00000382379:D853N;ENSP00000373287:D886N;ENSP00000397341:D853N	ENSP00000373287:D886N	D	-	1	0	ANKRD28	15694780	1.000000	0.71417	0.967000	0.41034	0.685000	0.39939	7.818000	0.86416	2.559000	0.86315	0.650000	0.86243	GAC		0.398	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		16	16	0	0	0	1	0	16	16					T	15719776	C	T	15719776	3	4	341	1	0	0	0	0	1	0	0	0	656	855	30	2	624	2	ANKRD28	3	15719776	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		15719776	182302654	7	32940											
SATB1	6304	broad.mit.edu	37	chr3	18435971	18435971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctgagttctgttaaaagCcacacgtgcaaataccgcct	8	12	1	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	ENST00000338745.6	-	7	2923	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	SATB1_ENST00000417717.2_Missense_Mutation_p.A397S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.A397S|SATB1_ENST00000475083.1_5'Flank	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	397					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						CTGTTAAAAGCCACACGTGCA	0.433																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1189-1191)Gct>Tct		SATB homeobox 1							131	120	124					3																	18435971		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18435971C>A		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.1189G>T	3.37:g.18435971C>A	ENSP00000341024:p.Ala397Ser					TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A397S|SATB1_ENST00000454909.2_Missense_Mutation_p.A397S	p.A397S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			7	2923	-			397					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1189G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262741	0.95399	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.52754	0.66;0.66;0.65	5.93	5.93	0.95920	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.048458	0.85682	N	0.000000	T	0.66509	0.2796	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.65018	-0.6270	10	0.62326	D	0.03	-17.4866	20.3539	0.98825	0.0:1.0:0.0:0.0	.	397;397	Q01826-2;Q01826	.;SATB1_HUMAN	S	397	ENSP00000341024:A397S;ENSP00000399708:A397S;ENSP00000399518:A397S	ENSP00000341024:A397S	A	-	1	0	SATB1	18410975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.826000	0.97356	0.655000	0.94253	GCT		0.433	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		46	92	1	0	1.61004e-24	1	1.68794e-24	46	92					A	18435971	C	A	18435971	3	1	341	1	0	0	0	0	1	0	0	0	13853	739	26	4	1122	4	SATB1	3	18435971	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	2716195	18435971	179586459	8	32941											
SLC4A7	9497	broad.mit.edu	37	chr3	27439832	27439832	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagaatacaccacgaaGttttttacattcctggaaaa	5	11	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	ENST00000295736.5	-	17	2483	c.2413C>G	c.(2413-2415)Ctt>Gtt	p.L805V	SLC4A7_ENST00000446700.1_Missense_Mutation_p.L797V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L681V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L814V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L355V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L690V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	805					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACACCACGAAGTTTTTTACAT	0.363																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2413-2415)Ctt>Gtt		solute carrier family 4, sodium bicarbonate cotransporter, member 7							86	88	88					3																	27439832		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27439832G>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2413C>G	3.37:g.27439832G>C	ENSP00000295736:p.Leu805Val					SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L814V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L797V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L355V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L690V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L681V	p.L805V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			17	2483	-			805					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2413C>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	5.476	0.272776	0.10349	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.71	1.92	0.25849	Bicarbonate transporter, C-terminal (1);	0.355203	0.32769	N	0.005675	T	0.67674	0.2918	L	0.51422	1.61	0.09310	N	0.999992	B;B;B;B;B;B;B;B;B	0.17465	0.022;0.022;0.009;0.002;0.001;0.0;0.018;0.022;0.0	B;B;B;B;B;B;B;B;B	0.32211	0.142;0.142;0.099;0.013;0.014;0.004;0.087;0.142;0.008	T	0.53507	-0.8429	10	0.26408	T	0.33	.	2.4888	0.04605	0.6116:0.1289:0.136:0.1234	.	801;686;797;801;814;355;681;805;686	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	356;805;681;814;801;686;797;686;801;690;355;701	ENSP00000411031:L356V;ENSP00000295736:L805V;ENSP00000416368:L681V;ENSP00000390394:L814V;ENSP00000414797:L801V;ENSP00000394252:L686V;ENSP00000406605:L797V;ENSP00000407382:L686V;ENSP00000406804:L801V;ENSP00000395336:L690V;ENSP00000373429:L355V;ENSP00000388703:L701V	ENSP00000295736:L805V	L	-	1	0	SLC4A7	27414836	0.044000	0.20184	0.017000	0.16124	0.608000	0.37181	1.961000	0.40432	0.083000	0.17047	-1.339000	0.01253	CTT		0.363	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		43	43	0	0	0	1	0	43	43					C	27439832	G	C	27439832	3	2	341	1	0	0	0	0	1	0	0	0	14658	1029	36	4	1267	4	SLC4A7	3	27439832	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	9003861	27439832	170582598	9	32942											
MYH15	22989	broad.mit.edu	37	chr3	108195254	108195254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaccttacctgttctataGtttgacctctggtaacatat	5	10	3	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	ENST00000273353.3	-	13	1339	c.1283C>T	c.(1282-1284)aCt>aTt	p.T428I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	428	Myosin motor.					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						CTGTTCTATAGTTTGACCTCT	0.338																																						ENST00000273353.3																			0				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						c.(1282-1284)aCt>aTt		myosin, heavy chain 15							77	73	74					3																	108195254		1848	4094	5942	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108195254G>A	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.1283C>T	3.37:g.108195254G>A	ENSP00000273353:p.Thr428Ile						p.T428I	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			13	1339	-			428			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1283C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549009	0.45383	.	.	ENSG00000144821	ENST00000273353	T	0.73789	-0.78	5.98	-8.2	0.01045	Myosin head, motor domain (2);	.	.	.	.	D	0.86356	0.5913	H	0.96691	3.865	0.09310	N	0.999995	P	0.47762	0.9	P	0.58577	0.841	T	0.82940	-0.0208	9	0.87932	D	0	.	10.7785	0.46363	0.1597:0.0706:0.6613:0.1084	.	428	Q9Y2K3	MYH15_HUMAN	I	428	ENSP00000273353:T428I	ENSP00000273353:T428I	T	-	2	0	MYH15	109677944	0.003000	0.15002	0.003000	0.11579	0.626000	0.37791	-2.771000	0.00779	-1.136000	0.02892	-0.271000	0.10264	ACT		0.338	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		26	23	0	0	0	1	0	26	23					A	108195254	G	A	108195254	3	1	341	1	0	0	0	0	1	0	0	0	10034	1029	36	2	4677	2	MYH15	3	108195254	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	80755422	108195254	89827176	10	32943											
HCN1	348980	broad.mit.edu	37	chr5	45262407	45262407	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttgtgcacttcatttttCggcgtggagctgccaggtgt	12	10	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2287-2289)ccG>ccA		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							70	69	69					5																	45262407		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262407C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2289G>A	5.37:g.45262407C>T							p.P763P	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2346	-			763						Silent	SNP	ENST00000303230.4	37	c.2289G>A	CCDS3952.1																																																																																				0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		29	31	0	0	0	1	0	29	31					T	45262407	C	T	45262407	2	4	341	1	0	0	0	0	0	0	0	1	6996	871	31	1		1	HCN1	5	45262407	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		45262407	135652853	11	32944											
ERAP2	64167	broad.mit.edu	37	chr5	96215430	96215430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttaattcacacagaaaacCaatgtttaacattcacagag	6	8	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	ENST00000437043.3	+	2	752	c.41C>T	c.(40-42)cCa>cTa	p.P14L	ERAP2_ENST00000379904.4_Missense_Mutation_p.P14L|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.P14L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	14					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)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(40-42)cCa>cTa		endoplasmic reticulum aminopeptidase 2							119	110	113					5																	96215430		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96215430C>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.41C>T	5.37:g.96215430C>T	ENSP00000400376:p.Pro14Leu					ERAP2_ENST00000379904.4_Missense_Mutation_p.P14L|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.P14L	p.P14L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	2	752	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	14					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.41C>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	0.540	-0.854129	0.02630	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04654	5.16;4.76;4.2;5.1;3.58	4.08	-0.0165	0.13972	.	1.765390	0.04011	N	0.298107	T	0.02012	0.0063	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	0.41574	-0.9501	10	0.08381	T	0.77	.	2.4534	0.04524	0.2105:0.2878:0.0:0.5016	.	14;14	Q6P179-3;Q6P179	.;ERAP2_HUMAN	L	14	ENSP00000400376:P14L;ENSP00000421175:P14L;ENSP00000421849:P14L;ENSP00000369235:P14L;ENSP00000425758:P14L	ENSP00000369235:P14L	P	+	2	0	ERAP2	96241186	0.005000	0.15991	0.013000	0.15412	0.009000	0.06853	-0.075000	0.11431	0.148000	0.19059	-0.261000	0.10672	CCA		0.373	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		6	82	0	0	0	1	0	6	82					T	96215430	C	T	96215430	3	4	341	1	0	0	0	0	1	0	0	0	5204	594	21	2	43	2	ERAP2	5	96215430	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	50953023	96215430	84699830	12	32945											
LIMK1	3984	broad.mit.edu	37	chr7	73511062	73511062	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgagtcctgccatgggtgctCtgagcaaatcaccaagggac	12	12	2	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	ENST00000336180.2	+	3	314	c.263C>G	c.(262-264)tCt>tGt	p.S88C	LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S54C|LIMK1_ENST00000418310.1_Missense_Mutation_p.S118C	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	88	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CATGGGTGCTCTGAGCAAATC	0.597																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(352-354)tCt>tGt		LIM domain kinase 1							78	75	76					7																	73511062		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73511062C>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.263C>G	7.37:g.73511062C>G	ENSP00000336740:p.Ser88Cys					LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S54C|LIMK1_ENST00000336180.2_Missense_Mutation_p.S88C	p.S118C			P53667	LIMK1_HUMAN			3	455	+		Lung NSC(55;0.137)	88			LIM zinc-binding 2.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.353C>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584680	0.65992	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.61	5.61	0.85477	Zinc finger, LIM-type (5);	0.264840	0.36854	N	0.002375	D	0.92573	0.7641	M	0.74881	2.28	0.44834	D	0.997845	P;P	0.52577	0.954;0.954	P;P	0.61533	0.89;0.89	D	0.93009	0.6430	10	0.72032	D	0.01	-17.0849	17.1985	0.86900	0.0:1.0:0.0:0.0	.	54;88	B7Z6I8;P53667	.;LIMK1_HUMAN	C	118;88;88;54;54	ENSP00000409717:S118C;ENSP00000336740:S88C;ENSP00000396480:S54C;ENSP00000444452:S54C	ENSP00000336740:S88C	S	+	2	0	LIMK1	73148998	0.972000	0.33761	0.991000	0.47740	0.993000	0.82548	2.421000	0.44688	2.655000	0.90218	0.650000	0.86243	TCT		0.597	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		18	34	0	0	0	1	0	18	34					G	73511062	C	G	73511062	3	3	341	1	0	0	0	0	1	0	0	0	8801	913	32	4	273	4	LIMK1	7	73511062	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		73511062	85627601	13	32946											
LRRCC1	85444	broad.mit.edu	37	chr8	86021973	86021973	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagtagaattgaaggacTaaacacactgacaaaactgt	7	6	0	3			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	ENST00000360375.3	+	2	397	c.248T>G	c.(247-249)cTa>cGa	p.L83R	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L63R	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	83					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAGGACTAAACACACTG	0.323																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(187-189)cTa>cGa		leucine rich repeat and coiled-coil centrosomal protein 1							68	62	64					8																	86021973		1847	4081	5928	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86021973T>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.248T>G	8.37:g.86021973T>G	ENSP00000353538:p.Leu83Arg					LRRCC1_ENST00000360375.3_Missense_Mutation_p.L83R	p.L63R			Q9C099	LRCC1_HUMAN			1	1077	+			83					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.188T>G	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108373	0.77096	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.34275	1.37;1.37	5.79	5.79	0.91817	.	0.000000	0.32343	N	0.006230	T	0.74261	0.3693	H	0.97491	4.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.84297	0.0503	10	0.87932	D	0	-7.8533	16.1169	0.81309	0.0:0.0:0.0:1.0	.	63;83	Q9C099-2;Q9C099	.;LRCC1_HUMAN	R	83;63	ENSP00000353538:L83R;ENSP00000394695:L63R	ENSP00000353538:L83R	L	+	2	0	LRRCC1	86209225	1.000000	0.71417	0.902000	0.35471	0.727000	0.41649	7.552000	0.82192	2.205000	0.71048	0.482000	0.46254	CTA		0.323	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		9	11	0	0	0	1	0	9	11					G	86021973	T	G	86021973	3	3	341	1	0	0	0	0	1	0	0	0	9026	1522	53	5	254	5	LRRCC1	8	86021973	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08		86021973	60342049	14	32947											
RASEF	158158	broad.mit.edu	37	chr9	85607825	85607825	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctcactcttaccatgGccagtttctctccaaagtgc	6	15	3	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	ENST00000376447.3	-	15	2296	c.2036C>G	c.(2035-2037)gCc>gGc	p.A679G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	679					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTACCATGGCCAGTTTCTC	0.473																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2035-2037)gCc>gGc		RAS and EF-hand domain containing							165	154	158					9																	85607825		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85607825G>C	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2036C>G	9.37:g.85607825G>C	ENSP00000365630:p.Ala679Gly						p.A679G	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			15	2296	-			679					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.2036C>G	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186540	0.94885	.	.	ENSG00000165105	ENST00000376447	D	0.82344	-1.6	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.056938	0.64402	D	0.000001	D	0.92450	0.7603	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.93305	0.6680	10	0.87932	D	0	.	19.1665	0.93560	0.0:0.0:1.0:0.0	.	679	Q8IZ41	RASEF_HUMAN	G	679	ENSP00000365630:A679G	ENSP00000365630:A679G	A	-	2	0	RASEF	84797645	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.726000	0.98782	2.622000	0.88805	0.655000	0.94253	GCC		0.473	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		76	156	0	0	0	1	0	76	156					C	85607825	G	C	85607825	3	2	341	1	0	0	0	0	1	0	0	0	13068	1203	42	4	198	4	RASEF	9	85607825	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		85607825	55605606	15	32948											
ZNF189	7743	broad.mit.edu	37	chr9	104170609	104170609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtgggaaaagttttagtCgcagttcatttgttattgaa	10	3	1	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	ENST00000339664.2	+	3	688	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ZNF189_ENST00000259395.4_Missense_Mutation_p.R145C|ZNF189_ENST00000374861.3_Missense_Mutation_p.R173C	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(517-519)Cgc>Tgc		zinc finger protein 189							82	84	83					9																	104170609		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170609C>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.559C>T	9.37:g.104170609C>T	ENSP00000342019:p.Arg187Cys					ZNF189_ENST00000259395.4_Missense_Mutation_p.R145C|ZNF189_ENST00000339664.2_Missense_Mutation_p.R187C	p.R173C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	801	+		Acute lymphoblastic leukemia(62;0.0559)	187					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.517C>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206983	0.39003	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19532	2.14;2.14;2.14	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000176	T	0.20088	0.0483	L	0.49571	1.57	0.45378	D	0.998363	B;P;B	0.36495	0.164;0.556;0.354	B;B;B	0.30029	0.023;0.101;0.11	T	0.03384	-1.1042	10	0.52906	T	0.07	.	15.8687	0.79091	0.0:1.0:0.0:0.0	.	172;173;187	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	C	173;187;145	ENSP00000363995:R173C;ENSP00000342019:R187C;ENSP00000259395:R145C	ENSP00000259395:R145C	R	+	1	0	ZNF189	103210430	0.000000	0.05858	1.000000	0.80357	0.931000	0.56810	-1.107000	0.03316	2.873000	0.98535	0.563000	0.77884	CGC		0.413	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		37	107	0	0	0	1	0	37	107					T	104170609	C	T	104170609	3	4	341	1	0	0	0	0	1	0	0	0	17751	884	31	1	569	1	ZNF189	9	104170609	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	18562784	104170609	37042822	16	32949											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713009	138713009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatggagcctgtaactgtcGaagagacacttcccatgtgg	11	10	1	1	rs183813341	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	ENST00000389532.4	-	11	3562	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_ENST00000312405.6_Silent_p.F888F|CAMSAP1_ENST00000409386.3_Silent_p.F1177F|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1166					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)		TGTAACTGTCGAAGAGACACT	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		18728	0.002		0.0	False		,,,				2504	0.0					ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3496-3498)ttC>ttT		calmodulin regulated spectrin-associated protein 1							94	99	97					9																	138713009		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713009G>A	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.3498C>T	9.37:g.138713009G>A						CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F1177F|CAMSAP1_ENST00000312405.6_Silent_p.F888F	p.F1166F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3562	-			1166					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3498C>T	CCDS35176.2																																																																																				0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		105	108	0	0	0	1	0	105	108					A	138713009	G	A	138713009	2	1	341	1	0	0	0	0	0	0	0	1	2611	1049	37	1		1	CAMSAP1	9	138713009	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	34542400	138713009	2500422	17	32950											
MPP7	143098	broad.mit.edu	37	chr10	28345529	28345529	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacatagggcttaaattcTagtgtccttaaatgcttcac	6	9	3	0	rs200989770		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	ENST00000375732.1	-	16	1690	c.1431A>G	c.(1429-1431)ctA>ctG	p.L477L	MPP7_ENST00000375719.3_Silent_p.L477L|MPP7_ENST00000445954.2_3'UTR|MPP7_ENST00000540098.1_Silent_p.L477L|MPP7_ENST00000337532.5_Silent_p.L477L			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	477	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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						GCTTAAATTCTAGTGTCCTTA	0.333													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17619	0.0		0.0	False		,,,				2504	0.0					ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1429-1431)ctA>ctG		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							116	115	116					10																	28345529		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28345529T>C	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.1431A>G	10.37:g.28345529T>C						MPP7_ENST00000445954.2_3'UTR|MPP7_ENST00000375719.3_Silent_p.L477L|MPP7_ENST00000375732.1_Silent_p.L477L|MPP7_ENST00000540098.1_Silent_p.L477L	p.L477L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			17	1707	-			477			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1431A>G	CCDS7158.1																																																																																				0.333	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		49	49	0	0	0	1	0	49	49					C	28345529	T	C	28345529	2	2	341	1	0	0	0	0	0	0	0	1	9739	1509	53	3		3	MPP7	10	28345529	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08		28345529	107189218	18	32951											
DMBT1	1755	broad.mit.edu	37	chr10	124348622	124348622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctgtggctgggccaCgtcagccccaggaaatgccc	15	14	1	0	rs189478437		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:124348622C>T	ENST00000338354.3	+	17	2052	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.T639M|DMBT1_ENST00000368909.3_Missense_Mutation_p.T649M|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.T639M			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	649	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.		T -> M (in dbSNP:rs189478437). {ECO:0000269|PubMed:10485905, ECO:0000269|PubMed:12185598}.		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)				GGCTGGGCCACGTCAGCCCCA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18540	0.0		0.001	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1945-1947)aCg>aTg		deleted in malignant brain tumors 1		C	,MET/THR,MET/THR	4,4040		1,2,2019	226	173	190		,1946,1916	-8.4	0	10		190	9,8237		1,7,4115	no	intron,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	,81,81	2,9,6134	TT,TC,CC		0.1091,0.0989,0.1058	,probably-damaging,probably-damaging	,649/2414,639/2404	124348622	13,12277	2022	4123	6145	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124348622C>T		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.1946C>T	10.37:g.124348622C>T	ENSP00000342210:p.Thr649Met					DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.T639M|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.T639M|DMBT1_ENST00000368909.3_Missense_Mutation_p.T649M	p.T649M			Q9UGM3	DMBT1_HUMAN			17	2052	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	649		T -> M.	SRCR 5.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1946C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.555	0.103062	0.08731	9.89E-4	0.001091	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.19	-8.38	0.00973	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	3.131680	0.01194	N	0.007412	T	0.23289	0.0563	N	0.13168	0.305	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14727	-1.0462	10	0.41790	T	0.15	.	7.794	0.29138	0.0:0.301:0.1041:0.5948	.	649;639;649	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	M	649;649;649;649;649;649;639;649;639	ENSP00000342210:T649M;ENSP00000343175:T639M;ENSP00000357905:T649M;ENSP00000357951:T639M	ENSP00000342210:T649M	T	+	2	0	DMBT1	124338612	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.192000	0.09587	-1.909000	0.01085	-2.735000	0.00129	ACG		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		12	194	0	0	0	1	0	12	194					T	124348622	C	T	124348622	3	4	341	1	0	0	0	0	1	0	0	0	4577	536	19	1	2012	1	DMBT1	10	124348622	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	96003093	124348622	11186125	19	32952											
OR52I2	143502	broad.mit.edu	37	chr11	4608789	4608789	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcattgctgcctcctatatCttaattctcaaggcagtatt	5	10	3	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	ENST00000312614.4	+	1	769	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	249						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)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(745-747)atC>atG		olfactory receptor, family 52, subfamily I, member 2							173	172	173					11																	4608789		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608789C>G	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.747C>G	11.37:g.4608789C>G	ENSP00000308764:p.Ile249Met						p.I249M	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	769	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	249					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.747C>G	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528080	0.27299	.	.	ENSG00000226288	ENST00000312614	T	0.72725	-0.68	4.18	-0.0945	0.13644	GPCR, rhodopsin-like superfamily (1);	1.984660	0.02596	N	0.100520	T	0.63070	0.2480	L	0.38692	1.165	0.09310	N	1	P	0.45594	0.862	P	0.45681	0.49	T	0.52041	-0.8628	10	0.54805	T	0.06	0.3153	1.3663	0.02202	0.1409:0.4279:0.1583:0.2729	.	249	Q8NH67	O52I2_HUMAN	M	249	ENSP00000308764:I249M	ENSP00000308764:I249M	I	+	3	3	OR52I2	4565365	0.000000	0.05858	0.205000	0.23548	0.973000	0.67179	-4.858000	0.00177	0.077000	0.16863	0.644000	0.83932	ATC		0.488	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		64	44	0	0	0	1	0	64	44					G	4608789	C	G	4608789	3	3	341	1	0	0	0	0	1	0	0	0	11121	903	32	4	749	4	OR52I2	11	4608789	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		4608789	130397727	20	32953											
OR51L1	119682	broad.mit.edu	37	chr11	5021019	5021019	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcgctttgggaagcaTctgtctcccatagtccacat	8	13	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	ENST00000321543.1	+	1	807	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	269						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463																																						ENST00000321543.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(805-807)caT>caC		olfactory receptor, family 51, subfamily L, member 1							209	179	189					11																	5021019		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5021019T>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.807T>C	11.37:g.5021019T>C							p.H269H	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	807	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	269					Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.807T>C	CCDS31369.1																																																																																				0.463	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		5	34	0	0	0	1	0	5	34					C	5021019	T	C	5021019	2	2	341	1	0	0	0	0	0	0	0	1	11102	1432	50	3		3	OR51L1	11	5021019	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08	412230	5021019	129985497	21	32954											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggctctgcaggacaCgcctgaggtggatgaaggtg	17	9	1	3	rs551318965		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562																																						ENST00000396275.2																			1	Substitution - Missense(1)	p.T298M(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(892-894)aCg>aTg		MAS-related GPR, member X3							45	48	47					11																	18159642		2200	4292	6492	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159642C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.893C>T	11.37:g.18159642C>T	ENSP00000379571:p.Thr298Met						p.T298M	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1254	+			298					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.893C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918658	0.17982	.	.	ENSG00000179826	ENST00000396275	T	0.24538	1.85	1.3	0.311	0.15831	.	0.912774	0.09241	N	0.829205	T	0.23649	0.0572	M	0.71871	2.18	0.20821	N	0.999841	P	0.40476	0.718	B	0.36335	0.222	T	0.24368	-1.0162	10	0.66056	D	0.02	.	3.3533	0.07160	0.0:0.704:0.0:0.296	.	298	Q96LB0	MRGX3_HUMAN	M	298	ENSP00000379571:T298M	ENSP00000379571:T298M	T	+	2	0	MRGPRX3	18116218	0.000000	0.05858	0.560000	0.28344	0.046000	0.14306	0.332000	0.19751	0.097000	0.17492	0.195000	0.17529	ACG		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		28	11	0	0	0	1	0	28	11					T	18159642	C	T	18159642	3	4	341	1	0	0	0	0	1	0	0	0	9768	536	19	1	895	1	MRGPRX3	11	18159642	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	13138623	18159642	116846874	22	32955											
OR9G4	283189	broad.mit.edu	37	chr11	56510829	56510829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagcccagtacagagggcGgtggacatggtacctgaata	13	9	0	2	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	ENST00000302957.3	-	1	458	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	153						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)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAGGGCGGTGGACATGG	0.478																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(457-459)acC>acT		olfactory receptor, family 9, subfamily G, member 4		G		1,4401	2.1+/-5.4	0,1,2200	100	104	103		459	-8.3	0	11	dbSNP_134	103	0,8592		0,0,4296	no	coding-synonymous	OR9G4	NM_001005284.1		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		153/328	56510829	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510829G>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.459C>T	11.37:g.56510829G>A							p.T153T	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	458	-			153					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.459C>T	CCDS31537.1																																																																																				0.478	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		13	175	0	0	0	1	0	13	175					A	56510829	G	A	56510829	2	1	341	1	0	0	0	0	0	0	0	1	11251	1103	39	1		1	OR9G4	11	56510829	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	38351187	56510829	78495687	23	32956											
SH2B3	10019	broad.mit.edu	37	chr12	111885310	111885310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcgagacgcggcgtgggGaatacgtgctcactttcaac	14	10	2	2	rs72650673		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr12:111885310G>A	ENST00000341259.2	+	6	1555	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	SH2B3_ENST00000538307.1_Missense_Mutation_p.E198K	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	400	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GCGGCGTGGGGAATACGTGCT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14547	0.0		0.0	False		,,,				2504	0.0					ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1198-1200)Gaa>Aaa		SH2B adaptor protein 3		G	LYS/GLU	0,4406		0,0,2203	53	58	56		1198	5	1	12	dbSNP_130	56	16,8584	9.1+/-34.3	0,16,4284	yes	missense	SH2B3	NM_005475.2	56	0,16,6487	AA,AG,GG		0.186,0.0,0.123	probably-damaging	400/576	111885310	16,12990	2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885310G>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1198G>A	12.37:g.111885310G>A	ENSP00000345492:p.Glu400Lys					SH2B3_ENST00000538307.1_Missense_Mutation_p.E198K	p.E400K	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			6	1555	+			400			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1198G>A	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501381	0.96371	0.0	0.00186	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.35236	1.32;1.32	5.0	5.0	0.66597	SH2 motif (5);	0.046293	0.85682	D	0.000000	T	0.62575	0.2439	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.83275	0.978;0.979;0.996	T	0.67154	-0.5742	10	0.87932	D	0	-21.7295	18.6561	0.91455	0.0:0.0:1.0:0.0	.	198;264;400	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	K	400;210;198	ENSP00000345492:E400K;ENSP00000440597:E198K	ENSP00000345492:E400K	E	+	1	0	SH2B3	110369693	1.000000	0.71417	0.996000	0.52242	0.919000	0.55068	9.393000	0.97256	2.482000	0.83794	0.462000	0.41574	GAA		0.632	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		5	93	0	0	0	1	0	5	93					A	111885310	G	A	111885310	3	1	341	1	0	0	0	0	1	0	0	0	14229	1175	41	2	1216	2	SH2B3	12	111885310	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		111885310	21966585	24	32957											
AKAP5	9495	broad.mit.edu	37	chr14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	AATAA	-													atgaaatggcctctgatgatAataaaataaacaatcttcta							TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	ENST00000394718.4	+	2	1636_1640	c.1258_1262delAATAA	c.(1258-1263)aataaafs	p.NK420fs	AKAP5_ENST00000320636.5_Frame_Shift_Del_p.NK420fs|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	420					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1258-1263)afs		A kinase (PRKA) anchor protein 5				1,4257		0,1,2128						1.5	1			74	1,8237		0,1,4118	no	frameshift	AKAP5	NM_004857.3		0,2,6246	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12494				SO:0001589	frameshift_variant	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936370_64936374delAATAA	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1258_1262delAATAA	14.37:g.64936375_64936379delAATAA	ENSP00000378207:p.Asn420fs					ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Frame_Shift_Del_p.NK420fs	p.NK420fs			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2546_2550	+			420					A2RRB8	Frame_Shift_Del	DEL	ENST00000394718.4	37	c.1258_1262delAATAA	CCDS9764.1																																																																																				0.341	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			21	86						21	86	---	---	---	---	-	64936374	AATAA	-	64936370	7	5	341	1	0	1	0	1	0	0	0	0	454	362	13	0	1260	0	AKAP5	14	64936370	Frame_Shift_Del	DEL	AATAA	TCGA-HW-8319-01A-11D-2395-08		64936370	42413170	25	32958											
PTGR2	145482	broad.mit.edu	37	chr14	74347933	74347933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttctggtattaaattatAaagacaaatttgagcctggc	8	5	1	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	ENST00000555661.1	+	8	1022	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	PTGR2_ENST00000553813.1_Missense_Mutation_p.K159E|PTGR2_ENST00000267568.4_Missense_Mutation_p.K293E|PTGR2_ENST00000555228.1_Missense_Mutation_p.K293E|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.K223E			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	293					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	ATTAAATTATAAAGACAAATT	0.358																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	ENST00000555661.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(877-879)Aaa>Gaa		prostaglandin reductase 2							75	80	79					14																	74347933		2203	4298	6501	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74347933A>G	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"zinc binding alcohol dehydrogenase domain containing 1"	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.877A>G	14.37:g.74347933A>G	ENSP00000452280:p.Lys293Glu					RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.K159E|PTGR2_ENST00000554885.1_Intron|PTGR2_ENST00000555228.1_Missense_Mutation_p.K293E|PTGR2_ENST00000267568.4_Missense_Mutation_p.K293E	p.K293E			Q8N8N7	PTGR2_HUMAN			8	1022	+			293					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.877A>G	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.348903	0.24426	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000553813	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.47	4.25	0.50352	NAD(P)-binding domain (1);	0.270197	0.40222	N	0.001159	T	0.58906	0.2155	L	0.31476	0.935	0.33330	D	0.568403	B	0.02656	0.0	B	0.04013	0.001	T	0.62685	-0.6802	10	0.41790	T	0.15	-16.857	6.8246	0.23876	0.7709:0.1531:0.076:0.0	.	293	Q8N8N7	PTGR2_HUMAN	E	293;293;293;159	ENSP00000450975:K293E;ENSP00000452280:K293E;ENSP00000267568:K293E;ENSP00000450824:K159E	ENSP00000267568:K293E	K	+	1	0	RP5-1021I20.4;PTGR2	73417686	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.863000	0.56016	2.071000	0.62044	0.477000	0.44152	AAA		0.358	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			48	55	0	0	0	1	0	48	55					G	74347933	A	G	74347933	3	3	341	1	0	0	0	0	1	0	0	0	12754	363	13	3	903	3	PTGR2	14	74347933	Missense_Mutation	SNP	A	TCGA-HW-8319-01A-11D-2395-08	9411563	74347933	33001607	26	32959											
ISLR	3671	broad.mit.edu	37	chr15	74467824	74467824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggagcaggacaacatcGcctgcacctcaccccatgtg	9	17	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	ENST00000249842.3	+	2	982	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	ISLR_ENST00000395118.1_Missense_Mutation_p.A209T|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	209	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAACATCGCCTGCACCTC	0.652																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(625-627)Gcc>Acc		immunoglobulin superfamily containing leucine-rich repeat							59	51	54					15																	74467824		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467824G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.625G>A	15.37:g.74467824G>A	ENSP00000249842:p.Ala209Thr					RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.A209T	p.A209T	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	982	+			209			LRRCT.			Missense_Mutation	SNP	ENST00000249842.3	37	c.625G>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	G	5.887	0.347861	0.11126	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.51817	0.69;0.69	4.21	2.21	0.28008	Cysteine-rich flanking region, C-terminal (1);	0.710257	0.11713	N	0.536708	T	0.19725	0.0474	N	0.10707	0.03	0.32940	D	0.518282	B	0.11235	0.004	B	0.04013	0.001	T	0.37267	-0.9713	10	0.02654	T	1	.	4.1093	0.10052	0.3599:0.2021:0.438:0.0	.	209	O14498	ISLR_HUMAN	T	209	ENSP00000249842:A209T;ENSP00000378550:A209T	ENSP00000249842:A209T	A	+	1	0	ISLR	72254877	0.000000	0.05858	0.987000	0.45799	0.791000	0.44710	0.531000	0.23052	0.666000	0.31087	0.313000	0.20887	GCC		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		12	48	0	0	0	1	0	12	48					A	74467824	G	A	74467824	3	1	341	1	0	0	0	0	1	0	0	0	7858	1087	38	1	627	1	ISLR	15	74467824	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		74467824	28063568	27	32960											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706072	1706072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagcagagtgccaaggaCgcccacgtgctgcccccagc	12	16	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	ENST00000397412.3	+	10	1413	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	CRAMP1L_ENST00000293925.5_Silent_p.D438D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Silent_p.D435D			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	438						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						GTGCCAAGGACGCCCACGTGC	0.706																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(1312-1314)gaC>gaT		Crm, cramped-like (Drosophila)							12	15	14					16																	1706072		2008	4136	6144	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1706072C>T	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.1314C>T	16.37:g.1706072C>T						LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Silent_p.D435D|CRAMP1L_ENST00000293925.5_Silent_p.D438D|CRAMP1L_ENST00000262317.4_Intron	p.D438D			Q96RY5	CRML_HUMAN			10	1413	+			438					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.1314C>T	CCDS10440.2																																																																																				0.706	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			10	16	0	0	0	1	0	10	16					T	1706072	C	T	1706072	2	4	341	1	0	0	0	0	0	0	0	1	3846	535	19	1		1	CRAMP1L	16	1706072	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		1706072	88648681	28	32961											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	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	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	36	0	0	0	1	0	24	36					T	7577538	C	T	7577538	3	4	341	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		7577538	73617672	29	32962											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2	rs397516435		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	22	0	0	0	1	0	24	22					A	7578263	G	A	7578263	4	1	341	1	0	0	0	0	0	1	0	0	16378	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	725	7578263	73616947	30	32963											
CANT1	124583	broad.mit.edu	37	chr17	76991172	76991172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctcgtggtccacgctgcCcttgtagcccaccaccttca	8	17	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	ENST00000302345.2	-	3	1257	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CANT1_ENST00000392446.5_Missense_Mutation_p.G255S|CANT1_ENST00000591773.1_Missense_Mutation_p.G255S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	255					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(763-765)Ggc>Agc		calcium activated nucleotidase 1							85	68	74					17																	76991172		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76991172C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.763G>A	17.37:g.76991172C>T	ENSP00000307674:p.Gly255Ser					CANT1_ENST00000591773.1_Missense_Mutation_p.G255S|CANT1_ENST00000392446.5_Missense_Mutation_p.G255S	p.G255S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	1257	-			255					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.763G>A	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819975	0.90873	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.94723	-3.5;-3.5	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.98175	1.0454	10	0.54805	T	0.06	-37.8737	17.3886	0.87424	0.0:1.0:0.0:0.0	.	255	Q8WVQ1	CANT1_HUMAN	S	255;255;204	ENSP00000307674:G255S;ENSP00000376241:G255S	ENSP00000307674:G255S	G	-	1	0	CANT1	74502767	1.000000	0.71417	0.943000	0.38184	0.635000	0.38103	7.291000	0.78721	2.092000	0.63282	0.462000	0.41574	GGC		0.652	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		3	3	0	0	0	1	0	3	3					T	76991172	C	T	76991172	3	4	341	1	0	0	0	0	1	0	0	0	2617	623	22	2	450	2	CANT1	17	76991172	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	69412909	76991172	4204038	31	32964											
ZC3H4	23211	broad.mit.edu	37	chr19	47570840	47570840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcttggaggtgggcagGgcgcgagccagccgaggatc	20	10	0	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	ENST00000253048.5	-	15	2722	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	895							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2683-2685)gcC>gcT		zinc finger CCCH-type containing 4							12	17	15					19																	47570840		1886	4112	5998	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47570840G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2685C>T	19.37:g.47570840G>A						ZC3H4_ENST00000594019.1_Intron	p.A895A	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2722	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	895					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2685C>T	CCDS42582.1																																																																																				0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			13	19	0	0	0	1	0	13	19					A	47570840	G	A	47570840	2	1	341	1	0	0	0	0	0	0	0	1	17567	1219	43	2		2	ZC3H4	19	47570840	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08		47570840	11558143	32	32965											
MYH7B	57644	broad.mit.edu	37	chr20	33581234	33581234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgcggagccgtggccGcctcatgcgccttgagtacc	15	15	1	1	rs370697289		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	ENST00000262873.7	+	24	2623	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	802						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2530-2532)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta		G	HIS/ARG	0,3964		0,0,1982	13	16	15		2531	0.3	1	20		15	1,8289		0,1,4144	no	missense	MYH7B	NM_020884.3	29	0,1,6126	AA,AG,GG		0.0121,0.0,0.0082	benign	844/1984	33581234	1,12253	1982	4145	6127	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33581234G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2531G>A	20.37:g.33581234G>A	ENSP00000262873:p.Arg844His						p.R844H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		24	2623	+			802					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2531G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591395	0.13812	0.0	1.21E-4	ENSG00000078814	ENST00000262873	T	0.71341	-0.56	4.61	0.258	0.15578	.	0.573793	0.13334	N	0.395697	T	0.45816	0.1361	N	0.11560	0.145	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	.	5.7554	0.18170	0.3045:0.0:0.5491:0.1464	.	802	A7E2Y1	MYH7B_HUMAN	H	844	ENSP00000262873:R844H	ENSP00000262873:R844H	R	+	2	0	MYH7B	33044895	0.000000	0.05858	0.995000	0.50966	0.648000	0.38561	0.039000	0.13884	0.218000	0.20820	0.655000	0.94253	CGC		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	18	0	0	0	1	0	14	18					A	33581234	G	A	33581234	3	1	341	1	0	0	0	0	1	0	0	0	10040	1087	38	1	2625	1	MYH7B	20	33581234	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		33581234	29444286	33	32966											
DGCR2	9993	broad.mit.edu	37	chr22	19026633	19026633	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctcaaaagcatcatcGtctgcaggaagagacagagg	12	9	3	2	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	ENST00000263196.7	-	10	1645	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Splice_Site_p.D425D	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	466					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.D466D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622																																						ENST00000263196.7																			1	Substitution - coding silent(1)	p.D466D(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.e10-1		DiGeorge syndrome critical region gene 2		G	,,,	1,4401		0,1,2200	35	35	35		1275,1266,1389,1398	-11.2	0.5	22	dbSNP_134	35	0,8598		0,0,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DGCR2	NM_001173533.1,NM_001173534.1,NM_001184781.1,NM_005137.2	,,,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,,,	425/510,422/507,463/548,466/551	19026633	1,12999	2201	4299	6500	SO:0001630	splice_region_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19026633G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1397-1C>T	22.37:g.19026633G>A						DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Splice_Site_p.D425_splice	p.D466_splice	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			10	1645	-	Colorectal(54;0.0993)		466					A6NIB5|A8K6K5|B5TY34|B7Z935	Splice_Site	SNP	ENST00000263196.7	37	c.1396_splice	CCDS33598.1																																																																																				0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137	Silent	12	31	0	0	0	1	0	12	31					A	19026633	G	A	19026633	5	1	341	1	0	0	0	0	0	0	1	0	4461	1159	40	1	258	1	DGCR2	22	19026633	Splice_Site	SNP	G	TCGA-HW-8319-01A-11D-2395-08		19026633	32277933	34	32967											
CXorf26	51260	broad.mit.edu	37	chrX	75396760	75396760	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaatgggattgttgaagaCttcaactatggtactttgct	9	5	1	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:75396760C>G	ENST00000373358.3	+	5	545	c.342C>G	c.(340-342)gaC>gaG	p.D114E	PBDC1_ENST00000373357.3_Intron	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	114																	TTGTTGAAGACTTCAACTATG	0.423																																						ENST00000373358.3																			0											c.(340-342)gaC>gaG		polysaccharide biosynthesis domain containing 1							228	184	199					X																	75396760		2203	4300	6503	SO:0001583	missense	51260							g.chrX:75396760C>G	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.342C>G	X.37:g.75396760C>G	ENSP00000362456:p.Asp114Glu					PBDC1_ENST00000373357.3_Intron	p.D114E	NM_016500.3	NP_057584.2					5	545	+									Missense_Mutation	SNP	ENST00000373358.3	37	c.342C>G	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465181	0.63513	.	.	ENSG00000102390	ENST00000373358	.	.	.	4.94	-0.49	0.12049	Yst0336-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.88181	2.935	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.75764	-0.3203	9	0.56958	D	0.05	-7.0775	9.1123	0.36734	0.0:0.291:0.0:0.709	.	114	Q9BVG4	CX026_HUMAN	E	114	.	ENSP00000362456:D114E	D	+	3	2	CXorf26	75313163	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	0.851000	0.27751	-0.124000	0.11724	-0.297000	0.09499	GAC		0.423	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		27	80	0	0	0	1	0	27	80					G	75396760	C	G	75396760	3	3	341	1	0	0	0	0	1	0	0	0	4104	564	20	4	360	4	CXorf26	23	75396760	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		75396760	79873800	35	32968											
ATRX	546	broad.mit.edu	37	chrX	76940431	76940431	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcatctatattacctacCtacattgttcatccattcca	2	13	3	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	ENST00000373344.5	-	8	876	c.662G>A	c.(661-663)aGg>aAg	p.R221K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.R183K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	221	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TATTACCTACCTACATTGTTC	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e8+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151	127	135					X																	76940431		2203	4291	6494	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940431C>T	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.662+1G>A	X.37:g.76940431C>T						ATRX_ENST00000395603.3_Splice_Site_p.R183_splice|ATRX_ENST00000480283.1_5'UTR	p.R221_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	876	-			221			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.662_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156533	0.78114	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.95554	-3.74;-3.74	5.54	5.54	0.83059	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	L	0.58669	1.825	0.80722	D	1	P;D;P;P	0.67145	0.889;0.996;0.933;0.911	D;D;D;D	0.83275	0.958;0.996;0.981;0.97	D	0.96814	0.9599	9	.	.	.	-15.232	18.4755	0.90791	0.0:1.0:0.0:0.0	.	221;182;183;221	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	K	221;183;177	ENSP00000362441:R221K;ENSP00000378967:R183K	.	R	-	2	0	ATRX	76827087	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.415000	0.80131	2.306000	0.77630	0.422000	0.28245	AGG		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	36	62	0	0	0	1	0	36	62					T	76940431	C	T	76940431	5	4	341	1	0	0	0	0	0	0	1	0	1208	695	24	2	6928	2	ATRX	23	76940431	Splice_Site	SNP	C	TCGA-HW-8319-01A-11D-2395-08	1543671	76940431	78330129	36	32969											
PLS3	5358	broad.mit.edu	37	chrX	114882253	114882253	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggcagttgtggatttaaTtgatgccatccagccaggct	11	8	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	ENST00000420625.2	+	15	1810	c.1676T>G	c.(1675-1677)aTt>aGt	p.I559S	PLS3_ENST00000355899.3_Missense_Mutation_p.I559S|PLS3_ENST00000543070.1_Missense_Mutation_p.I153S|PLS3_ENST00000539310.1_Missense_Mutation_p.I514S|PLS3_ENST00000537301.1_Missense_Mutation_p.I546S|PLS3_ENST00000289290.3_Missense_Mutation_p.I523S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	559	Actin-binding 2.|CH 4. {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						GTGGATTTAATTGATGCCATC	0.403																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(1675-1677)aTt>aGt		plastin 3							185	159	168					X																	114882253		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114882253T>G	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.1676T>G	X.37:g.114882253T>G	ENSP00000398945:p.Ile559Ser					PLS3_ENST00000355899.3_Missense_Mutation_p.I559S|PLS3_ENST00000289290.3_Missense_Mutation_p.I523S|PLS3_ENST00000543070.1_Missense_Mutation_p.I153S|PLS3_ENST00000539310.1_Missense_Mutation_p.I514S|PLS3_ENST00000537301.1_Missense_Mutation_p.I546S	p.I559S	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			15	1810	+			559			Actin-binding 2.|CH 4.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.1676T>G	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506872	0.85282	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.79	5.79	0.91817	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.90705	3.14	0.80722	D	1	D;D;D	0.71674	0.998;0.982;0.991	D;D;D	0.77557	0.99;0.943;0.958	D	0.99282	1.0896	10	0.87932	D	0	0.2228	13.8643	0.63578	0.0:0.0:0.0:1.0	.	532;546;559	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	S	559;546;523;559;514;153	ENSP00000348163:I559S;ENSP00000445105:I546S;ENSP00000289290:I523S;ENSP00000398945:I559S;ENSP00000445339:I514S;ENSP00000439260:I153S	ENSP00000289290:I523S	I	+	2	0	PLS3	114788509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.930000	0.87610	1.955000	0.56771	0.441000	0.28932	ATT		0.403	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			61	94	0	0	0	1	0	61	94					G	114882253	T	G	114882253	3	3	341	1	0	0	0	0	1	0	0	0	12108	1493	52	5	1730	5	PLS3	23	114882253	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08	37941822	114882253	40388307	37	32970											
ZNF275	10838	broad.mit.edu	37	chrX	152612569	152612569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctttaggggggtggcGgagtttaatgagcacaggaa	17	4	1	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	ENST00000421401.3	+	4	603	c.426G>A	c.(424-426)gcG>gcA	p.A142A	ZNF275_ENST00000440091.1_Silent_p.A172A|ZNF275_ENST00000370251.3_Silent_p.A142A|ZNF275_ENST00000370249.2_Silent_p.A89A			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	142					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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607																																						ENST00000421401.3																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(424-426)gcG>gcA		zinc finger protein 275							39	42	41					X																	152612569		2048	4173	6221	SO:0001819	synonymous_variant	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612569G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.426G>A	X.37:g.152612569G>A						ZNF275_ENST00000370251.2_Silent_p.A142A|ZNF275_ENST00000370249.2_Silent_p.A89A|ZNF275_ENST00000440091.1_Silent_p.A172A	p.A142A	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN			4	603	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		142					A6NE92	Silent	SNP	ENST00000421401.3	37	c.426G>A																																																																																					0.607	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		16	18	0	0	0	1	0	16	18					A	152612569	G	A	152612569	2	1	341	1	0	0	0	0	0	0	0	1	17807	1103	39	1		1	ZNF275	23	152612569	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	37730316	152612569	2657991	38	32971											
SLC2A7	155184	broad.mit.edu	37	chr1	9085133	9085133	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcgtcggctggagccGctgtaggagacaagtccaag	14	11	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:9085133G>A	ENST00000400906.1	-	2	51	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	18					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)	p.R18W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)		GGCTGGAGCCGCTGTAGGAGA	0.652																																						ENST00000400906.1																			1	Substitution - Missense(1)	p.R18W(1)	NS(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.e2-1		solute carrier family 2 (facilitated glucose transporter), member 7							24	25	25					1																	9085133		2195	4290	6485	SO:0001630	splice_region_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9085133G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.52-1C>T	1.37:g.9085133G>A							p.R18_splice	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-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)	2	51	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	18					A2A333	Splice_Site	SNP	ENST00000400906.1	37	c.51_splice	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204436	0.58234	.	.	ENSG00000197241	ENST00000400906	T	0.60797	0.16	4.33	-2.25	0.06888	Major facilitator superfamily domain, general substrate transporter (1);	0.141869	0.41396	D	0.000884	T	0.59238	0.2179	L	0.56199	1.76	0.21719	N	0.999579	D	0.89917	1.0	P	0.59288	0.855	T	0.54931	-0.8219	10	0.72032	D	0.01	.	7.3427	0.26646	0.0958:0.0:0.2385:0.6657	.	18	Q6PXP3	GTR7_HUMAN	W	18	ENSP00000383698:R18W	ENSP00000383698:R18W	R	-	1	2	SLC2A7	9007720	0.001000	0.12720	0.004000	0.12327	0.242000	0.25591	-0.296000	0.08287	-0.185000	0.10550	0.462000	0.41574	CGG		0.652	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	Missense_Mutation	6	44	0	0	0	1	0	6	44					A	9085133	G	A	9085133	5	1	342	1	0	0	0	0	0	0	1	0	14550	1101	38	1	1530	1	SLC2A7	1	9085133	Splice_Site	SNP	G	TCGA-HW-8320-01A-11D-2395-08		9085133	240165488	1	32972											
MED18	54797	broad.mit.edu	37	chr1	28661302	28661302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatggtgtacaagattttcCgcatcctggtgccagggaac	11	9	0	1	rs201163722		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:28661302C>T	ENST00000373842.4	+	3	657	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.R150C	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	150						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)		CAAGATTTTCCGCATCCTGGT	0.502																																						ENST00000373842.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(448-450)Cgc>Tgc		mediator complex subunit 18							155	138	144					1																	28661302		2203	4300	6503	SO:0001583	missense	54797				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding	g.chr1:28661302C>T	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.448C>T	1.37:g.28661302C>T	ENSP00000362948:p.Arg150Cys					MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.R150C	p.R150C	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN		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)	3	657	+		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)	150					D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	c.448C>T	CCDS322.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519343	0.85495	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.84	4.92	0.64577	Mediator complex, subunit Med18, metazoa/fungi (1);	0.049789	0.85682	D	0.000000	T	0.77018	0.4069	M	0.65498	2.005	0.48452	D	0.999658	D	0.89917	1.0	D	0.74674	0.984	T	0.80018	-0.1558	9	0.87932	D	0	-13.2355	15.1831	0.72975	0.1425:0.8575:0.0:0.0	.	150	Q9BUE0	MED18_HUMAN	C	150	.	ENSP00000362948:R150C	R	+	1	0	MED18	28533889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.713000	0.84693	1.442000	0.47568	0.655000	0.94253	CGC		0.502	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1	NM_017638		4	84	0	0	0	1	0	4	84					T	28661302	C	T	28661302	3	4	342	1	0	0	0	0	1	0	0	0	9436	652	23	1	454	1	MED18	1	28661302	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	19576169	28661302	220589319	2	32973											
CLCA1	1179	broad.mit.edu	37	chr1	86957002	86957002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaatggcctcattgatgCttttggggccctttcatcag	10	10	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:86957002C>T	ENST00000234701.3	+	10	1763	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	CLCA1_ENST00000394711.1_Missense_Mutation_p.A471V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	471	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCATTGATGCTTTTGGGGCC	0.383																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1411-1413)gCt>gTt		chloride channel accessory 1							125	123	124					1																	86957002		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86957002C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1412C>T	1.37:g.86957002C>T	ENSP00000234701:p.Ala471Val					CLCA1_ENST00000394711.1_Missense_Mutation_p.A471V	p.A471V			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	10	1763	+		Lung NSC(277;0.239)	471			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1412C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776972	0.90195	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.04049	3.72;3.72	5.92	5.92	0.95590	von Willebrand factor, type A (2);	0.123576	0.53938	D	0.000045	T	0.20170	0.0485	M	0.85099	2.735	0.41590	D	0.988796	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.00579	-1.1661	10	0.62326	D	0.03	-16.3444	19.0921	0.93231	0.0:1.0:0.0:0.0	.	471;234	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	V	471;471;184	ENSP00000234701:A471V;ENSP00000378200:A471V	ENSP00000234701:A471V	A	+	2	0	CLCA1	86729590	1.000000	0.71417	0.989000	0.46669	0.886000	0.51366	4.708000	0.61859	2.809000	0.96659	0.655000	0.94253	GCT		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		5	41	0	0	0	1	0	5	41					T	86957002	C	T	86957002	3	4	342	1	0	0	0	0	1	0	0	0	3457	797	28	2	1446	2	CLCA1	1	86957002	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	58295700	86957002	162293619	3	32974											
HMCN1	83872	broad.mit.edu	37	chr1	186056428	186056428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctatcaatcaagctggCgaaagcaagaaaaagttttc	8	7	2	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:186056428C>T	ENST00000271588.4	+	59	9355	c.9126C>T	c.(9124-9126)ggC>ggT	p.G3042G	HMCN1_ENST00000367492.2_Silent_p.G3042G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3042	Ig-like C2-type 28.				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						ATCAAGCTGGCGAAAGCAAGA	0.348																																						ENST00000271588.4																			0				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						c.(9124-9126)ggC>ggT		hemicentin 1							147	143	144					1																	186056428		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056428C>T	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.9126C>T	1.37:g.186056428C>T						HMCN1_ENST00000367492.2_Silent_p.G3042G	p.G3042G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			59	9355	+			3042			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.9126C>T	CCDS30956.1																																																																																				0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		39	39	0	0	0	1	0	39	39					T	186056428	C	T	186056428	2	4	342	1	0	0	0	0	0	0	0	1	7220	755	27	1		1	HMCN1	1	186056428	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	99099426	186056428	63194193	4	32975											
CD55	1604	broad.mit.edu	37	chr1	207500166	207500166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccagtggagtgacccGttgccagagtgcagaggtaa	14	9	1	3	rs146687590	byFrequency	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:207500166G>A	ENST00000367064.3	+	5	906	c.648G>A	c.(646-648)ccG>ccA	p.P216P	CD55_ENST00000314754.8_Silent_p.P216P|CD55_ENST00000391920.4_Silent_p.P216P|CD55_ENST00000367063.2_Silent_p.P216P|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.P216P|CD55_ENST00000367062.4_Silent_p.P216P|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391921.4_Silent_p.P152P	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	216	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	GGAGTGACCCGTTGCCAGAGT	0.398																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(646-648)ccG>ccA		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)	G	,	2,4404	4.2+/-10.8	0,2,2201	150	148	149		648,648	-9	0	1	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CD55	NM_000574.3,NM_001114752.1	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	216/382,216/441	207500166	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207500166G>A	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.648G>A	1.37:g.207500166G>A						CD55_ENST00000367065.5_Silent_p.P216P|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.P216P|CD55_ENST00000391920.4_Silent_p.P216P|CD55_ENST00000367063.2_Silent_p.P216P|CD55_ENST00000367062.4_Silent_p.P216P|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391921.4_Silent_p.P152P	p.P216P	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN			5	906	+			216			Sushi 3.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	ENST00000367064.3	37	c.648G>A	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	G	3.650	-0.071759	0.07228	4.54E-4	1.16E-4	ENSG00000196352	ENST00000343420	.	.	.	5.17	-9.03	0.00737	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18555	-1.0333	4	.	.	.	.	5.0131	0.14322	0.2654:0.1224:0.4925:0.1197	.	.	.	.	H	226	.	.	R	+	2	0	CD55	205566789	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.269000	0.02834	-1.930000	0.01056	-0.300000	0.09419	CGT		0.398	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		4	92	0	0	0	1	0	4	92					A	207500166	G	A	207500166	2	1	342	1	0	0	0	0	0	0	0	1	3024	1132	40	1		1	CD55	1	207500166	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	21443738	207500166	41750455	5	32976											
USH2A	7399	broad.mit.edu	37	chr1	216062131	216062131	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcccttccggtgcccctggGagtgtccatacagtctggga	12	13	1	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:216062131G>A	ENST00000307340.3	-	41	8246	c.7860C>T	c.(7858-7860)ctC>ctT	p.L2620L	USH2A_ENST00000366943.2_Silent_p.L2620L|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2620	Fibronectin type-III 12. {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)		GTGCCCCTGGGAGTGTCCATA	0.502										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(7858-7860)ctC>ctT		Usher syndrome 2A (autosomal recessive, mild)							82	81	81					1																	216062131		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062131G>A	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.7860C>T	1.37:g.216062131G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.L2620L|RP5-1111A8.3_ENST00000414995.1_RNA	p.L2620L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8246	-			2620					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.7860C>T	CCDS31025.1																																																																																				0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		21	47	0	0	0	1	0	21	47					A	216062131	G	A	216062131	2	1	342	1	0	0	0	0	0	0	0	1	17033	1161	41	2		2	USH2A	1	216062131	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	8561965	216062131	33188490	6	32977											
OR2T3	343173	broad.mit.edu	37	chr1	248637583	248637583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgaggagcatgatgcAgtcaagaatgaaccaagaaa	12	7	2	5			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:248637583A>G	ENST00000359594.2	+	1	957	c.932A>G	c.(931-933)cAg>cGg	p.Q311R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	311						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			AGCATGATGCAGTCAAGAATG	0.473																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(931-933)cAg>cGg		olfactory receptor, family 2, subfamily T, member 3							191	207	202					1																	248637583		2202	4298	6500	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637583A>G		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.932A>G	1.37:g.248637583A>G	ENSP00000352604:p.Gln311Arg						p.Q311R	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	957	+	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)		311					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.932A>G	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	0.012	-1.649195	0.00785	.	.	ENSG00000196539	ENST00000359594	T	0.35048	1.33	1.24	-1.9	0.07665	.	.	.	.	.	T	0.13372	0.0324	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	9	0.35671	T	0.21	.	2.2671	0.04081	0.4642:0.3115:0.2243:0.0	.	311	Q8NH03	OR2T3_HUMAN	R	311	ENSP00000352604:Q311R	ENSP00000352604:Q311R	Q	+	2	0	OR2T3	246704206	0.001000	0.12720	0.001000	0.08648	0.089000	0.18198	-0.094000	0.11094	-0.540000	0.06265	0.156000	0.16432	CAG		0.473	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		6	259	0	0	0	1	0	6	259					G	248637583	A	G	248637583	3	3	342	1	0	0	0	0	1	0	0	0	11023	188	7	3	934	3	OR2T3	1	248637583	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	32575452	248637583	613038	7	32978											
SNTG2	54221	broad.mit.edu	37	chr2	1079270	1079270	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctatgacatccggctgaagCtgacgaaagaggtgctgaca	12	10	0	5			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:1079270C>G	ENST00000308624.5	+	2	268	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	SNTG2_ENST00000407292.1_Missense_Mutation_p.L47V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	47					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCGGCTGAAGCTGACGAAAGA	0.463																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(139-141)Ctg>Gtg		syntrophin, gamma 2							126	125	125					2																	1079270		2006	4187	6193	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1079270C>G	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.139C>G	2.37:g.1079270C>G	ENSP00000311837:p.Leu47Val					SNTG2_ENST00000407292.1_Missense_Mutation_p.L47V	p.L47V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	2	268	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	47					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.139C>G	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207218	0.39003	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.55234	0.65;0.53	4.23	4.23	0.50019	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000004	T	0.71484	0.3345	M	0.73962	2.25	0.24798	N	0.992716	D;D	0.69078	0.996;0.997	D;D	0.80764	0.994;0.991	T	0.65809	-0.6078	10	0.48119	T	0.1	.	16.2283	0.82315	0.0:1.0:0.0:0.0	.	47;47	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	V	47	ENSP00000311837:L47V;ENSP00000385020:L47V	ENSP00000311837:L47V	L	+	1	2	SNTG2	1069270	1.000000	0.71417	0.910000	0.35882	0.027000	0.11550	3.333000	0.52090	1.888000	0.54679	0.591000	0.81541	CTG		0.463	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		4	92	0	0	0	1	0	4	92					G	1079270	C	G	1079270	3	3	342	1	0	0	0	0	1	0	0	0	14875	796	28	4	145	4	SNTG2	2	1079270	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		1079270	242120103	8	32979											
BIRC6	57448	broad.mit.edu	37	chr2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgctgagatagtttatgCagccaccaccagtttgcggc	11	11	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					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)					ATAGTTTATGCAGCCACCACC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				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						c.(13468-13470)gCa>gTa		baculoviral IAP repeat containing 6							74	73	73					2																	32819095		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32819095C>T	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.13469C>T	2.37:g.32819095C>T	ENSP00000393596:p.Ala4490Val						p.A4490V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			67	13603	+	Acute lymphoblastic leukemia(172;0.155)		4490					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13469C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330902	0.60853	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.51	5.51	0.81932	.	0.172283	0.51477	D	0.000085	T	0.68760	0.3036	L	0.40543	1.245	0.51482	D	0.999922	B	0.16603	0.018	B	0.14023	0.01	T	0.62153	-0.6914	10	0.30078	T	0.28	.	19.4294	0.94758	0.0:1.0:0.0:0.0	.	4490	Q9NR09	BIRC6_HUMAN	V	4490	ENSP00000393596:A4490V	ENSP00000393596:A4490V	A	+	2	0	BIRC6	32672599	1.000000	0.71417	0.833000	0.33012	0.991000	0.79684	4.753000	0.62183	2.579000	0.87056	0.650000	0.86243	GCA		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		4	47	0	0	0	1	0	4	47					T	32819095	C	T	32819095	3	4	342	1	0	0	0	0	1	0	0	0	1438	710	25	2	13735	2	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	31739825	32819095	210380278	9	32980											
KLF7	8609	broad.mit.edu	37	chr2	207988530	207988530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctggtgggcctttaagtggGagctttttgtataaactttc	11	6	1	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:207988530G>T	ENST00000309446.6	-	2	1077	c.701C>A	c.(700-702)tCc>tAc	p.S234Y	KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.S201Y|KLF7_ENST00000458272.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000412414.2_Missense_Mutation_p.S206Y	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	234					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTTTAAGTGGGAGCTTTTTGT	0.542																																						ENST00000309446.6																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(700-702)tCc>tAc		Kruppel-like factor 7 (ubiquitous)							78	79	79					2																	207988530		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988530G>T	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.701C>A	2.37:g.207988530G>T	ENSP00000309570:p.Ser234Tyr					KLF7_ENST00000412414.2_Missense_Mutation_p.S206Y|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.S201Y|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000423015.1_Intron	p.S234Y	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	2	1077	-			234					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.701C>A	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606812	0.87157	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000412414	T;T;T	0.35605	1.3;1.3;1.3	5.94	5.94	0.96194	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	0.68366	0.2993	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.984	T	0.72080	-0.4398	10	0.87932	D	0	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	206;234	B7Z4F7;O75840	.;KLF7_HUMAN	Y	234;201;206	ENSP00000309570:S234Y;ENSP00000387510:S201Y;ENSP00000403284:S206Y	ENSP00000309570:S234Y	S	-	2	0	KLF7	207696775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	TCC		0.542	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		4	115	1	0	2.56e-06	1	2.60267e-06	4	115					T	207988530	G	T	207988530	3	4	342	1	0	0	0	0	1	0	0	0	8351	1174	41	4	219	4	KLF7	2	207988530	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	175169435	207988530	35210843	10	32981											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	41	0	0	0	1	0	29	41					T	209113112	C	T	209113112	3	4	342	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1124582	209113112	34086261	11	32982											
ALPPL2	251	broad.mit.edu	37	chr2	233274354	233274354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcaggcgaggacgtggcGgtgttcgcgcgcggcccgca	18	14	0	0	rs374332709		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:233274354G>A	ENST00000295453.3	+	11	1423	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	457					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	AGGACGTGGCGGTGTTCGCGC	0.667													g|||	1	0.000199681	0.0	0.0014	5008	,	,		11887	0.0		0.0	False		,,,				2504	0.0					ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1369-1371)gcG>gcA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)	G		1,4395	2.1+/-5.4	0,1,2197	24	27	26		1371	-3.8	1	2		26	0,8600		0,0,4300	no	coding-synonymous	ALPPL2	NM_031313.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		457/533	233274354	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274354G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1371G>A	2.37:g.233274354G>A							p.A457A	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1423	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	457					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1371G>A	CCDS2491.1																																																																																				0.667	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		14	15	0	0	0	1	0	14	15					A	233274354	G	A	233274354	2	1	342	1	0	0	0	0	0	0	0	1	549	1103	39	1		1	ALPPL2	2	233274354	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	24161242	233274354	9925019	12	32983											
CELSR3	1951	broad.mit.edu	37	chr3	48699299	48699299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggtgctgaacctgatgCaggagctgtcctcgccgtgc	16	12	0	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:48699299C>T	ENST00000164024.4	-	1	1049	c.769G>A	c.(769-771)Gca>Aca	p.A257T	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.A257T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	257					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)		GAACCTGATGCAGGAGCTGTC	0.701																																						ENST00000544264.1																			0				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						c.(769-771)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 3							26	33	31					3																	48699299		2196	4282	6478	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699299C>T	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.769G>A	3.37:g.48699299C>T	ENSP00000164024:p.Ala257Thr					CELSR3_ENST00000164024.4_Missense_Mutation_p.A257T	p.A257T			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1049	-			257					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.769G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984484	0.02180	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70045	-0.45;-0.42	5.2	-4.72	0.03269	.	.	.	.	.	T	0.37210	0.0995	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	0.16188	-1.0411	9	0.22109	T	0.4	.	5.8875	0.18890	0.1133:0.5622:0.224:0.1004	.	257;327	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	257	ENSP00000164024:A257T;ENSP00000445694:A257T	ENSP00000164024:A257T	A	-	1	0	CELSR3	48674303	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	0.391000	0.20784	-1.171000	0.02765	-0.982000	0.02568	GCA		0.701	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		10	105	0	0	0	1	0	10	105					T	48699299	C	T	48699299	3	4	342	1	0	0	0	0	1	0	0	0	3223	710	25	2	9309	2	CELSR3	3	48699299	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		48699299	149323131	13	32984											
VPS8	23355	broad.mit.edu	37	chr3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagcagtacaagagaCgccaagaaatggctgatgaa	12	7	0	4	rs200270246	byFrequency	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:184714255C>T	ENST00000437079.3	+	44	3973	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_ENST00000287546.4_Missense_Mutation_p.R1268C|VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1268							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)			GTACAAGAGACGCCAAGAAAT	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.001					ENST00000287546.4																			0				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						c.(3802-3804)Cgc>Tgc		vacuolar protein sorting 8 homolog (S. cerevisiae)		C	CYS/ARG,CYS/ARG	0,3814		0,0,1907	81	79	79		3802,3796	6	1	3		79	1,8249		0,1,4124	yes	missense,missense	VPS8	NM_001009921.2,NM_015303.3	180,180	0,1,6031	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	1268/1429,1266/1427	184714255	1,12063	1907	4125	6032	SO:0001583	missense	23355						zinc ion binding	g.chr3:184714255C>T	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.3802C>T	3.37:g.184714255C>T	ENSP00000397879:p.Arg1268Cys					VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C|VPS8_ENST00000437079.3_Missense_Mutation_p.R1268C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C	p.R1268C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		43	3973	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1268					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.3802C>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232170	0.79688	0.0	1.21E-4	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	6.03	6.03	0.97812	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.091135	0.64402	D	0.000001	T	0.76162	0.3949	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.64410	0.844;0.922;0.925	T	0.76022	-0.3111	10	0.54805	T	0.06	-11.6005	13.4353	0.61079	0.2565:0.7435:0.0:0.0	.	1268;1176;1266	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	C	1268;1268;1266;1176	ENSP00000287546:R1268C;ENSP00000397879:R1268C;ENSP00000404704:R1266C;ENSP00000405483:R1176C	ENSP00000287546:R1268C	R	+	1	0	VPS8	186196949	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.826000	0.48104	2.854000	0.98071	0.655000	0.94253	CGC		0.413	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	39	0	0	0	1	0	8	39					T	184714255	C	T	184714255	3	4	342	1	0	0	0	0	1	0	0	0	17215	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	136014956	184714255	13308175	14	32985											
TBC1D19	55296	broad.mit.edu	37	chr4	26640408	26640408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaggccagttggagaaCagaaagaacttcttaataaa	9	7	1	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:26640408C>T	ENST00000264866.4	+	6	663	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q64*|TBC1D19_ENST00000515568.1_3'UTR|AC093807.1_ENST00000580172.1_RNA	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	129							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGTTGGAGAACAGAAAGAACT	0.308																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(385-387)Cag>Tag		TBC1 domain family, member 19							81	84	83					4																	26640408		2203	4296	6499	SO:0001587	stop_gained	55296					intracellular	Rab GTPase activator activity	g.chr4:26640408C>T	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.385C>T	4.37:g.26640408C>T	ENSP00000264866:p.Gln129*					TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q64*|TBC1D19_ENST00000515568.1_3'UTR	p.Q129*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			6	663	+		Breast(46;0.0503)	129					B9A6M0|Q9NUX1	Nonsense_Mutation	SNP	ENST00000264866.4	37	c.385C>T	CCDS3439.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773496	0.96922	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789;ENST00000513596	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.2823	18.175	0.89759	0.0:1.0:0.0:0.0	.	.	.	.	X	98;129;64;64;97	.	ENSP00000264866:Q129X	Q	+	1	0	TBC1D19	26249506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.184000	0.72008	2.657000	0.90304	0.655000	0.94253	CAG		0.308	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		22	30	0	0	0	1	0	22	30					T	26640408	C	T	26640408	4	4	342	1	0	0	0	0	0	1	0	0	15604	479	17	2	407	2	TBC1D19	4	26640408	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		26640408	164513868	15	32986											
ENPEP	2028	broad.mit.edu	37	chr4	111397908	111397908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccctgttggaggaggAcacctacacgggcaccgtga	14	12	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:111397908A>G	ENST00000265162.5	+	1	680	c.338A>G	c.(337-339)gAc>gGc	p.D113G		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	113					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)		TTGGAGGAGGACACCTACACG	0.622																																						ENST00000265162.5																			0				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						c.(337-339)gAc>gGc		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						98	102	101					4																	111397908		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397908A>G	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.338A>G	4.37:g.111397908A>G	ENSP00000265162:p.Asp113Gly						p.D113G	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	680	+		Hepatocellular(203;0.217)	113					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.338A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	8.278	0.814834	0.16607	.	.	ENSG00000138792	ENST00000265162	T	0.02709	4.19	5.83	5.83	0.93111	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.217273	0.45361	D	0.000378	T	0.08403	0.0209	L	0.28776	0.89	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.53012	-0.8498	10	0.24483	T	0.36	.	16.1922	0.82000	1.0:0.0:0.0:0.0	.	113	Q07075	AMPE_HUMAN	G	113	ENSP00000265162:D113G	ENSP00000265162:D113G	D	+	2	0	ENPEP	111617357	1.000000	0.71417	0.993000	0.49108	0.009000	0.06853	8.885000	0.92439	2.226000	0.72624	0.459000	0.35465	GAC		0.622	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			24	170	0	0	0	1	0	24	170					G	111397908	A	G	111397908	3	3	342	1	0	0	0	0	1	0	0	0	5128	275	10	3	340	3	ENPEP	4	111397908	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	84757500	111397908	79756368	16	32987											
C4orf49	84709	broad.mit.edu	37	chr4	140187905	140187905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgtatctttatcattatCgatggtgacagcttcatcca	7	8	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:140187905C>T	ENST00000398955.1	-	4	750	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	191					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											TTATCATTATCGATGGTGACA	0.468																																						ENST00000398955.1																			0											c.(571-573)Gat>Aat		mitochondria-localized glutamic acid-rich protein							277	255	262					4																	140187905		1928	4144	6072	SO:0001583	missense	84709					integral to membrane		g.chr4:140187905C>T	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.571G>A	4.37:g.140187905C>T	ENSP00000381928:p.Asp191Asn						p.D191N	NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN			4	750	-			191					Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	c.571G>A	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	C	0.580	-0.837658	0.02692	.	.	ENSG00000137463	ENST00000398955	T	0.45668	0.89	3.53	-4.39	0.03611	.	1.382810	0.04462	N	0.374590	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.29243	-1.0018	10	0.02654	T	1	-16.2608	6.1209	0.20151	0.0:0.5169:0.1694:0.3137	.	191	Q8TDB4	CD049_HUMAN	N	191	ENSP00000381928:D191N	ENSP00000381928:D191N	D	-	1	0	C4orf49	140407355	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-1.930000	0.01557	-0.857000	0.04115	0.467000	0.42956	GAT		0.468	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		43	176	0	0	0	1	0	43	176					T	140187905	C	T	140187905	3	4	342	1	0	0	0	0	1	0	0	0	2275	884	31	1	155	1	C4orf49	4	140187905	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	28789997	140187905	50966371	17	32988											
NPY2R	4887	broad.mit.edu	37	chr4	156135956	156135956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctctccatgccttccagCttgccgttgacattgacagc	8	15	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:156135956C>T	ENST00000329476.3	+	2	1354	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	NPY2R_ENST00000506608.1_Missense_Mutation_p.L289F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	289					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)	TGCCTTCCAGCTTGCCGTTGA	0.517																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(865-867)Ctt>Ttt		neuropeptide Y receptor Y2							97	82	87					4																	156135956		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135956C>T	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.865C>T	4.37:g.156135956C>T	ENSP00000332591:p.Leu289Phe					NPY2R_ENST00000506608.1_Missense_Mutation_p.L289F	p.L289F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	1354	+	all_hematologic(180;0.24)	Renal(120;0.0854)	289					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.865C>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070171	0.55539	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.70986	-0.53;-0.53	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84704	0.0730	10	0.72032	D	0.01	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	289	P49146	NPY2R_HUMAN	F	289	ENSP00000332591:L289F;ENSP00000426366:L289F	ENSP00000332591:L289F	L	+	1	0	NPY2R	156355406	1.000000	0.71417	0.938000	0.37757	0.500000	0.33767	3.291000	0.51764	2.819000	0.97034	0.643000	0.83706	CTT		0.517	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		10	38	0	0	0	1	0	10	38					T	156135956	C	T	156135956	3	4	342	1	0	0	0	0	1	0	0	0	10609	797	28	2	867	2	NPY2R	4	156135956	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	15948051	156135956	35018320	18	32989											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182353	182353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtcgaggaagatgagcCagagccagaactagagacgg	15	9	0	5			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr5:182353C>T	ENST00000283426.6	+	18	3781	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1244							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGATGAGCCAGAGCCAGAA	0.652																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(3730-3732)cCa>cTa		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							30	32	31					5																	182353		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182353C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3731C>T	5.37:g.182353C>T	ENSP00000283426:p.Pro1244Leu						p.P1244L	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3781	+			1244						Missense_Mutation	SNP	ENST00000283426.6	37	c.3731C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.282277	0.01398	.	.	ENSG00000153404	ENST00000283426	T	0.22945	1.93	3.44	-2.6	0.06190	.	.	.	.	.	T	0.12433	0.0302	N	0.14661	0.345	0.36812	D	0.885928	B	0.02656	0.0	B	0.01281	0.0	T	0.08027	-1.0742	9	0.42905	T	0.14	.	7.4882	0.27445	0.0:0.3817:0.0:0.6183	.	1244	Q96PX9	PKH4B_HUMAN	L	1244	ENSP00000283426:P1244L	ENSP00000283426:P1244L	P	+	2	0	PLEKHG4B	235353	1.000000	0.71417	0.007000	0.13788	0.007000	0.05969	0.901000	0.28445	-1.018000	0.03363	-1.250000	0.01514	CCA		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		7	39	0	0	0	1	0	7	39					T	182353	C	T	182353	3	4	342	1	0	0	0	0	1	0	0	0	12072	594	21	2	3801	2	PLEKHG4B	5	182353	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		182353	180732907	19	32990											
ADAM28	10863	broad.mit.edu	37	chr8	24193003	24193003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccagcaaaagatgagtgCgacctgcctgaaatgtgtaa	11	8	0	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:24193003C>T	ENST00000265769.4	+	14	1526	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	ADAM28_ENST00000437154.2_Silent_p.C472C|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Silent_p.C239C|ADAM28_ENST00000397649.3_Silent_p.C219C|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	472	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGTGCGACCTGCCTG	0.433																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1414-1416)tgC>tgT		ADAM metallopeptidase domain 28							139	129	133					8																	24193003		2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24193003C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1416C>T	8.37:g.24193003C>T						ADAM28_ENST00000437154.2_Silent_p.C472C|ADAM28_ENST00000540823.1_Silent_p.C239C|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.C219C|RP11-624C23.1_ENST00000523578.1_RNA	p.C472C	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	14	1526	+		Prostate(55;0.0959)	472			Disintegrin.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1416C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	8.600	0.886724	0.17540	.	.	ENSG00000042980	ENST00000521629	.	.	.	5.8	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0668	0.30665	0.0:0.2379:0.0:0.7621	.	.	.	.	X	105	.	.	R	+	1	2	ADAM28	24248948	0.994000	0.37717	1.000000	0.80357	0.969000	0.65631	0.148000	0.16224	0.465000	0.27167	-1.027000	0.02421	CGA		0.433	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		8	31	0	0	0	1	0	8	31					T	24193003	C	T	24193003	2	4	342	1	0	0	0	0	0	0	0	1	246	776	27	1		1	ADAM28	8	24193003	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08		24193003	122171019	20	32991											
ZFHX4	79776	broad.mit.edu	37	chr8	77616608	77616608	+	Frame_Shift_Del	DEL	C	C	-													tttcccagtttacagaaataCatggaacaccactgccctaa							TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:77616608delC	ENST00000521891.2	+	2	733	c.285delC	c.(283-285)tacfs	p.Y95fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Y95fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	95					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)			TACAGAAATACATGGAACACC	0.498										HNSCC(33;0.089)																												ENST00000521891.2																			0				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						c.(283-285)tafs		zinc finger homeobox 4							188	184	185					8																	77616608		2064	4194	6258	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616608delC		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.285delC	8.37:g.77616608delC	ENSP00000430497:p.Tyr95fs	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000517683.1_Intron	p.Y95fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	733	+			95					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.285delC	CCDS47878.2																																																																																				0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		94	165						94	165	---	---	---	---	-	77616608	C	-	77616608	7	5	342	1	0	1	0	1	0	0	0	0	17632	489	17	0	287	0	ZFHX4	8	77616608	Frame_Shift_Del	DEL	C	TCGA-HW-8320-01A-11D-2395-08	53423605	77616608	68747414	21	32992											
ANGPT1	284	broad.mit.edu	37	chr8	108306212	108306212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctagacttccatcttcAcgatgttgtattacagtcca	5	10	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:108306212A>G	ENST00000520734.1	-	5	675	c.390T>C	c.(388-390)cgT>cgC	p.R130R	ANGPT1_ENST00000520052.1_Silent_p.R129R|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	330					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)			TTCCATCTTCACGATGTTGTA	0.343																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(388-390)cgT>cgC		angiopoietin 1							145	138	140					8																	108306212		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108306212A>G	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.390T>C	8.37:g.108306212A>G						ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.R129R	p.R130R			Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		5	675	-	Breast(1;5.06e-08)		330					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.390T>C																																																																																					0.343	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		17	70	0	0	0	1	0	17	70					G	108306212	A	G	108306212	2	3	342	1	0	0	0	0	0	0	0	1	610	146	6	3		3	ANGPT1	8	108306212	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	30689604	108306212	38057810	22	32993											
EPPK1	83481	broad.mit.edu	37	chr8	144940776	144940776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctccaggtagcgcttgaCgcggtcgtcctccatgagct	12	15	0	2	rs371383984		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:144940776C>T	ENST00000525985.1	-	2	6717	c.6646G>A	c.(6646-6648)Gtc>Atc	p.V2216I				P58107	EPIPL_HUMAN	epiplakin 1	2216						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)			TAGCGCTTGACGCGGTCGTCC	0.627																																						ENST00000525985.1																			0				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						c.(6646-6648)Gtc>Atc		epiplakin 1							125	132	130					8																	144940776		2122	4210	6332	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940776C>T	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.6646G>A	8.37:g.144940776C>T	ENSP00000436337:p.Val2216Ile						p.V2216I			P58107	EPIPL_HUMAN	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)		2	6717	-	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)		2216					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6646G>A		.	.	.	.	.	.	.	.	.	.	C	6.182	0.401710	0.11696	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.67	1.84	0.25277	.	.	.	.	.	T	0.53029	0.1771	L	0.38175	1.15	0.20638	N	0.999879	B	0.17667	0.023	B	0.12156	0.007	T	0.39121	-0.9629	9	0.37606	T	0.19	.	7.8362	0.29371	0.1332:0.7057:0.0:0.1612	.	2216	E9PPU0	.	I	2216	ENSP00000436337:V2216I	ENSP00000436337:V2216I	V	-	1	0	EPPK1	145012764	0.006000	0.16342	0.028000	0.17463	0.095000	0.18619	0.445000	0.21677	-0.027000	0.13873	-1.094000	0.02160	GTC		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		41	175	0	0	0	1	0	41	175					T	144940776	C	T	144940776	3	4	342	1	0	0	0	0	1	0	0	0	5190	536	19	1	620	1	EPPK1	8	144940776	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	36634564	144940776	1423246	23	32994											
SPAG8	4882	broad.mit.edu	37	chr9	35811425	35811425	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggggctgagctcagaGtcagggccagtgtctggacc	15	10	3	2	rs386352365		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:35811425G>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Silent_p.D204D|SPAG8_ENST00000340291.2_Silent_p.D206D|AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Silent_p.D206D|SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGCTCAGAGTCAGGGCCAG	0.627																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(616-618)gaC>gaT		sperm associated antigen 8							63	71	69					9																	35811425		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811425G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811425G>A						SPAG8_ENST00000484764.1_Silent_p.D204D|SPAG8_ENST00000396638.2_Silent_p.D206D	p.D206D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	742	-	all_epithelial(49;0.161)		206					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.618C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	4.253	0.045898	0.08196	.	.	ENSG00000137098	ENST00000497810	.	.	.	4.08	-0.398	0.12418	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	0.2763	0.7765	0.01033	0.2241:0.1876:0.3961:0.1922	.	.	.	.	I	204	.	.	T	-	2	0	SPAG8	35801425	0.002000	0.14202	0.001000	0.08648	0.033000	0.12548	-0.181000	0.09740	0.109000	0.17891	0.655000	0.94253	ACT		0.627	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			32	133	0	0	0	1	0	32	133					A	35811425	G	A	35811425	1	1	342	0	1	0	0	0	0	0	0	0	14984	1020	36	2		2	SPAG8	9	35811425	IGR	SNP	G	TCGA-HW-8320-01A-11D-2395-08		35811425	105402006	24	32995											
AKAP2	11217	broad.mit.edu	37	chr9	112898643	112898643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccttactgatcaccaCgaatccctggataatgatgt	8	12	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:112898643C>T	ENST00000259318.7	+	2	333	c.126C>T	c.(124-126)caC>caT	p.H42H	AKAP2_ENST00000510514.5_Silent_p.H273H|PALM2-AKAP2_ENST00000374530.3_Silent_p.H273H|AKAP2_ENST00000374525.1_Silent_p.H131H|AKAP2_ENST00000555236.1_Silent_p.H273H|PALM2-AKAP2_ENST00000302798.7_Silent_p.H273H|AKAP2_ENST00000434623.2_Silent_p.H131H	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	42										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTGATCACCACGAATCCCTGG	0.493																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(817-819)caC>caT									180	157	165					9																	112898643		2203	4300	6503	SO:0001819	synonymous_variant	0						enzyme binding	g.chr9:112898643C>T	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.126C>T	9.37:g.112898643C>T						PALM2-AKAP2_ENST00000302798.7_Silent_p.H273H|AKAP2_ENST00000434623.2_Silent_p.H131H|AKAP2_ENST00000374525.1_Silent_p.H131H|AKAP2_ENST00000259318.7_Silent_p.H42H|AKAP2_ENST00000555236.1_Silent_p.H273H|AKAP2_ENST00000510514.5_Silent_p.H273H	p.H273H	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	999	+			42					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.819C>T	CCDS48003.1																																																																																				0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		92	104	0	0	0	1	0	92	104					T	112898643	C	T	112898643	2	4	342	1	0	0	0	0	0	0	0	1	451	535	19	1		1	AKAP2	9	112898643	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	77087218	112898643	28314788	25	32996											
ZNF33B	7582	broad.mit.edu	37	chr10	43088769	43088769	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtgtgcgttctctgAtgtattgtgaggtctgactt	11	9	2	3			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:43088769A>G	ENST00000359467.3	-	5	1743	c.1629T>C	c.(1627-1629)caT>caC	p.H543H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	543					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(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GCGTTCTCTGATGTATTGTGA	0.428																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1627-1629)caT>caC		zinc finger protein 33B							128	123	125					10																	43088769		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088769A>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1629T>C	10.37:g.43088769A>G						ZNF33B_ENST00000486187.1_RNA	p.H543H	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1743	-			543					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1629T>C	CCDS7198.1																																																																																				0.428	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		23	110	0	0	0	1	0	23	110					G	43088769	A	G	43088769	2	3	342	1	0	0	0	0	0	0	0	1	17852	330	12	3		3	ZNF33B	10	43088769	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08		43088769	92445978	26	32997											
MRPL43	84545	broad.mit.edu	37	chr10	102739072	102739072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaactgcggacagcaTaggggctggagcagaggtca	16	8	1	2	rs576770183		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:102739072T>C	ENST00000318325.2	-	5	639	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Intron|SEMA4G_ENST00000370250.4_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.Y238C|MRPL43_ENST00000370241.3_Intron	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	196					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGGACAGCATAGGGGCTGGA	0.502													t|||	1	0.000199681	0.0008	0.0	5008	,	,		20216	0.0		0.0	False		,,,				2504	0.0					ENST00000318325.2																			0				endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4						c.(586-588)Atg>Gtg		mitochondrial ribosomal protein L43							67	61	63					10																	102739072		2203	4300	6503	SO:0001583	missense	84545				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr10:102739072T>C	AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"Mitochondrial ribosomal proteins / large subunits"	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.586A>G	10.37:g.102739072T>C	ENSP00000315364:p.Met196Val					SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.Y238C|SEMA4G_ENST00000370250.4_Intron	p.M196V	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	5	639	-		Colorectal(252;0.234)	196					B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Missense_Mutation	SNP	ENST00000318325.2	37	c.586A>G	CCDS7502.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.71|12.71	2.020330|2.020330	0.35606|0.35606	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000318325|ENST00000370242	.|.	.|.	.|.	4.93|4.93	-8.05|-8.05	0.01106|0.01106	.|.	.|5.475080	.|0.00166	.|N	.|0.000007	T|T	0.16938|0.16938	0.0407|0.0407	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.01281	0.0|0.0	T|T	0.24297|0.24297	-1.0164|-1.0164	8|9	0.41790|0.87932	T|D	0.15|0	.|.	5.121|5.121	0.14860|0.14860	0.077:0.4216:0.1414:0.36|0.077:0.4216:0.1414:0.36	.|.	196|238	Q8N983|B1AL06	RM43_HUMAN|.	V|C	196|238	.|.	ENSP00000315364:M196V|ENSP00000359262:Y238C	M|Y	-|-	1|2	0|0	MRPL43|MRPL43	102729062|102729062	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.033000|0.033000	0.12548|0.12548	-4.006000|-4.006000	0.00315|0.00315	-1.641000|-1.641000	0.01523|0.01523	-0.433000|-0.433000	0.05886|0.05886	ATG|TAT		0.502	MRPL43-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049902.1			54	58	0	0	0	1	0	54	58					C	102739072	T	C	102739072	3	2	342	1	0	0	0	0	1	0	0	0	9807	1406	49	3	65	3	MRPL43	10	102739072	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08	59650303	102739072	32795675	27	32998											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642985	1642985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccttggaacccccacaGgagccacagccccccttgga	8	21	0	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(337-339)tcC>tcT		keratin associated protein 5-4							8	18	15					11																	1642985		664	1522	2186	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1642985G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.339C>T	11.37:g.1642985G>A							p.S113S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	383	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	113			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.339C>T																																																																																					0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		5	163	0	0	0	1	0	5	163					A	1642985	G	A	1642985	2	1	342	1	0	0	0	0	0	0	0	1	8563	987	35	2		2	KRTAP5-4	11	1642985	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08		1642985	133363531	28	32999											
PACSIN3	29763	broad.mit.edu	37	chr11	47202192	47202192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgctcagccgctcagcCgccgtgaaaaaggcatgcca	12	15	2	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:47202192C>T	ENST00000539589.1	-	5	603	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PACSIN3_ENST00000298838.6_Silent_p.A87A	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	87	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCCGCTCAGCCGCCGTGAAAA	0.677																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(259-261)gcG>gcA		protein kinase C and casein kinase substrate in neurons 3							22	24	24					11																	47202192		2199	4293	6492	SO:0001819	synonymous_variant	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47202192C>T	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.261G>A	11.37:g.47202192C>T						PACSIN3_ENST00000298838.6_Silent_p.A87A	p.A87A	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			5	603	-			87					A6NH84|Q9H331|Q9NWV9	Silent	SNP	ENST00000539589.1	37	c.261G>A	CCDS31481.1																																																																																				0.677	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		7	71	0	0	0	1	0	7	71					T	47202192	C	T	47202192	2	4	342	1	0	0	0	0	0	0	0	1	11376	639	23	1		1	PACSIN3	11	47202192	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	45559207	47202192	87804324	29	33000											
SLC22A6	9356	broad.mit.edu	37	chr11	62749448	62749448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccaatcaaggtgcccacGcaggcccgtgtgtgaatggg	14	11	1	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:62749448G>A	ENST00000377871.3	-	4	929	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLC22A6_ENST00000421062.2_Silent_p.C221C|SLC22A6_ENST00000458333.2_Silent_p.C221C|SLC22A6_ENST00000360421.4_Silent_p.C221C|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	221					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)	AGGTGCCCACGCAGGCCCGTG	0.607																																						ENST00000377871.3																			0				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						c.(661-663)tgC>tgT		solute carrier family 22 (organic anion transporter), member 6							64	51	55					11																	62749448		2201	4298	6499	SO:0001819	synonymous_variant	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62749448G>A	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.663C>T	11.37:g.62749448G>A						SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Silent_p.C221C|SLC22A6_ENST00000421062.2_Silent_p.C221C|SLC22A6_ENST00000458333.2_Silent_p.C221C	p.C221C	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			4	929	-			221					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	c.663C>T	CCDS31591.1																																																																																				0.607	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		5	45	0	0	0	1	0	5	45					A	62749448	G	A	62749448	2	1	342	1	0	0	0	0	0	0	0	1	14458	1079	38	1		1	SLC22A6	11	62749448	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	15547256	62749448	72257068	30	33001											
ZFPL1	7542	broad.mit.edu	37	chr11	64855533	64855533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggccgcagctgacagcGatcccaacctggacccactc	11	18	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:64855533G>A	ENST00000294258.3	+	8	1032	c.880G>A	c.(880-882)Gat>Aat	p.D294N	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	294					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						AGCTGACAGCGATCCCAACCT	0.662																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(880-882)Gat>Aat		zinc finger protein-like 1							89	88	88					11																	64855533		2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855533G>A		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.880G>A	11.37:g.64855533G>A	ENSP00000294258:p.Asp294Asn						p.D294N	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN			8	1032	+			294					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.880G>A	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821999	0.90873	.	.	ENSG00000162300	ENST00000294258	T	0.60171	0.21	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72033	-0.4412	10	0.87932	D	0	-9.8896	15.8855	0.79244	0.0:0.0:1.0:0.0	.	294	O95159	ZFPL1_HUMAN	N	294	ENSP00000294258:D294N	ENSP00000294258:D294N	D	+	1	0	ZFPL1	64612109	1.000000	0.71417	0.990000	0.47175	0.899000	0.52679	9.059000	0.93902	2.610000	0.88304	0.655000	0.94253	GAT		0.662	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		20	161	0	0	0	1	0	20	161					A	64855533	G	A	64855533	3	1	342	1	0	0	0	0	1	0	0	0	17653	1058	37	1	906	1	ZFPL1	11	64855533	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	2106085	64855533	70150983	31	33002											
DDX51	317781	broad.mit.edu	37	chr12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatacttccccgaatcccCgtccccatctgtatcttcca	5	18	2	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:132625414C>T	ENST00000397333.3	-	9	1440	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	468					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCCGAATCCCCGTCCCCATCT	0.617																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1402-1404)Ggg>Agg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							105	113	110					12																	132625414		1936	4124	6060	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625414C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1402G>A	12.37:g.132625414C>T	ENSP00000380495:p.Gly468Arg						p.G468R	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	9	1440	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	468					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1402G>A	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	4.681	0.126550	0.08931	.	.	ENSG00000185163	ENST00000397333	T	0.01902	4.57	4.72	-3.95	0.04118	.	1.714690	0.03274	N	0.185190	T	0.02047	0.0064	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47114	-0.9142	10	0.17369	T	0.5	-12.9339	1.3012	0.02079	0.3239:0.336:0.099:0.2411	.	468	Q8N8A6	DDX51_HUMAN	R	468	ENSP00000380495:G468R	ENSP00000380495:G468R	G	-	1	0	DDX51	131191367	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.187000	0.03067	-0.531000	0.06340	-1.402000	0.01139	GGG		0.617	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		8	124	0	0	0	1	0	8	124					T	132625414	C	T	132625414	3	4	342	1	0	0	0	0	1	0	0	0	4369	652	23	1	626	1	DDX51	12	132625414	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		132625414	1226481	32	33003											
CPSF2	53981	broad.mit.edu	37	chr14	92625466	92625466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagaaggagaactaaAggatgatggagaagactcag	13	3	1	6			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr14:92625466A>G	ENST00000298875.4	+	14	2246	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	654				K -> R (in Ref. 3; AAH70095). {ECO:0000305}.	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)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGAGAACTAAAGGATGATGGA	0.413																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(1960-1962)aAg>aGg		cleavage and polyadenylation specific factor 2, 100kDa							110	107	108					14																	92625466		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92625466A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1961A>G	14.37:g.92625466A>G	ENSP00000298875:p.Lys654Arg						p.K654R	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	14	2246	+		all_cancers(154;0.0766)	654	K -> R (in Ref. 3; AAH70095).				B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1961A>G	CCDS9902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.11|10.11	1.260697|1.260697	0.23051|0.23051	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000298875|ENST00000555244	T|.	0.46063|.	0.88|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.050507|.	0.85682|.	D|.	0.000000|.	T|T	0.53012|0.53012	0.1770|0.1770	L|L	0.40543|0.40543	1.245|1.245	0.51482|0.51482	D|D	0.999925|0.999925	B|.	0.27286|.	0.174|.	B|.	0.20184|.	0.028|.	T|T	0.51116|0.51116	-0.8746|-0.8746	10|5	0.16896|.	T|.	0.51|.	.|.	7.7306|7.7306	0.28786|0.28786	0.8722:0.0:0.1278:0.0|0.8722:0.0:0.1278:0.0	.|.	654|.	Q9P2I0|.	CPSF2_HUMAN|.	R|G	654|171	ENSP00000298875:K654R|.	ENSP00000298875:K654R|.	K|R	+|+	2|1	0|2	CPSF2|CPSF2	91695219|91695219	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.894000|0.894000	0.52154|0.52154	4.259000|4.259000	0.58828|0.58828	1.902000|1.902000	0.55061|0.55061	0.482000|0.482000	0.46254|0.46254	AAG|AGG		0.413	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			4	85	0	0	0	1	0	4	85					G	92625466	A	G	92625466	3	3	342	1	0	0	0	0	1	0	0	0	3825	72	3	3	2007	3	CPSF2	14	92625466	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08		92625466	14724074	33	33004											
ITGAE	3682	broad.mit.edu	37	chr17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggcctgagcctggggaCggaggtcagggcccaggagg	20	9	1	1	rs374525538		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:3664729C>T	ENST00000263087.4	-	5	499	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	134					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)		AGCCTGGGGACGGAGGTCAGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21453	0.001		0.0	False		,,,				2504	0.0				NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				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						c.(400-402)cGt>cAt		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	66	66	66		401	-5.3	0	17		66	0,8600		0,0,4300	no	missense	ITGAE	NM_002208.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	134/1180	3664729	1,13005	2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3664729C>T	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.401G>A	17.37:g.3664729C>T	ENSP00000263087:p.Arg134His						p.R134H	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	5	499	-			134					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.401G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329602	0.24167	2.27E-4	0.0	ENSG00000083457	ENST00000263087	D	0.93659	-3.26	3.69	-5.35	0.02697	.	.	.	.	.	D	0.85932	0.5812	L	0.38175	1.15	0.09310	N	1	B	0.21688	0.059	B	0.14023	0.01	T	0.71810	-0.4480	9	0.45353	T	0.12	.	5.9258	0.19112	0.1428:0.2593:0.0:0.5979	.	134	P38570	ITAE_HUMAN	H	134	ENSP00000263087:R134H	ENSP00000263087:R134H	R	-	2	0	ITGAE	3611478	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.864000	0.04254	-1.157000	0.02815	0.407000	0.27541	CGT		0.557	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		8	98	0	0	0	1	0	8	98					T	3664729	C	T	3664729	3	4	342	1	0	0	0	0	1	0	0	0	7885	536	19	1	3246	1	ITGAE	17	3664729	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		3664729	77530481	34	33005											
TP53	7157	broad.mit.edu	37	chr17	7577576	7577582	+	Frame_Shift_Del	DEL	GTTGTAG	GTTGTAG	-													caggaactgttacacatgtaGttgtagtggatggtggtaca					rs144340710|rs587780073		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:7577576_7577582delGTTGTAG	ENST00000269305.4	-	7	888_894	c.699_705delCTACAAC	c.(697-705)cactacaacfs	p.HYN233fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000574684.1_5'UTR	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	233	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.Y234C(94)|p.Y234H(20)|p.Y234N(14)|p.N235S(14)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.N235D(7)|p.Y234D(6)|p.?(5)|p.N235I(4)|p.Y234*(4)|p.Y234del(3)|p.N235T(3)|p.N235fs*5(2)|p.N235Y(2)|p.H233Q(2)|p.N235fs*12(2)|p.Y141S(2)|p.C229_H233delCTTIH(2)|p.H233fs*6(2)|p.N235del(2)|p.N235fs*6(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.T230_Y234delTTIHY(1)|p.Y141N(1)|p.Y234Y(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232fs*5(1)|p.Y141H(1)|p.I232_Y236delIHYNY(1)|p.Y141D(1)|p.N235>XX(1)|p.N235M(1)|p.Y234R(1)|p.N235H(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)|p.Y234_N235insX(1)|p.H233del(1)|p.Y236fs*5(1)|p.Y234fs*6(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)	TACACATGTAGTTGTAGTGGATGGTGG	0.57		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		240	Substitution - Missense(192)|Deletion - In frame(12)|Deletion - Frameshift(10)|Whole gene deletion(8)|Insertion - Frameshift(6)|Unknown(5)|Substitution - Nonsense(4)|Insertion - In frame(1)|Complex - insertion inframe(1)|Substitution - coding silent(1)	p.Y234C(94)|p.Y234H(20)|p.Y234N(14)|p.N235S(14)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.N235D(7)|p.Y234D(6)|p.?(5)|p.N235I(4)|p.Y234*(4)|p.Y234del(3)|p.N235T(3)|p.N235fs*5(2)|p.N235Y(2)|p.H233Q(2)|p.N235fs*12(2)|p.Y141S(2)|p.C229_H233delCTTIH(2)|p.H233fs*6(2)|p.N235del(2)|p.N235fs*6(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.T230_Y234delTTIHY(1)|p.Y141N(1)|p.Y234Y(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232fs*5(1)|p.Y141H(1)|p.I232_Y236delIHYNY(1)|p.Y141D(1)|p.N235>XX(1)|p.N235M(1)|p.Y234R(1)|p.N235H(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)|p.Y234_N235insX(1)|p.H233del(1)|p.Y236fs*5(1)|p.Y234fs*6(1)	lung(35)|haematopoietic_and_lymphoid_tissue(29)|breast(23)|ovary(18)|large_intestine(17)|skin(16)|central_nervous_system(15)|oesophagus(14)|urinary_tract(14)|upper_aerodigestive_tract(11)|stomach(9)|biliary_tract(8)|prostate(8)|kidney(5)|bone(4)|liver(4)|cervix(3)|endometrium(2)|vulva(1)|eye(1)|soft_tissue(1)|adrenal_gland(1)|thymus(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	GRCh37	CM035576|CM941331|CM951230	TP53	M	rs144340710	c.(697-705)cafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577576_7577582delGTTGTAG	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.699_705delCTACAAC	17.37:g.7577576_7577582delGTTGTAG	ENSP00000269305:p.His233fs	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)				TP53_ENST00000359597.4_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.HYN233fs	p.HYN233fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	831_837	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	233		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.699_705delCTACAAC	CCDS11118.1																																																																																				0.57	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	10						51	10	---	---	---	---	-	7577582	GTTGTAG	-	7577576	7	5	342	1	0	1	0	1	0	0	0	0	16378	1020	36	0	585	0	TP53	17	7577576	Frame_Shift_Del	DEL	GTTGTAG	TCGA-HW-8320-01A-11D-2395-08	3912847	7577576	73617634	35	33006											
CNTD1	124817	broad.mit.edu	37	chr17	40956252	40956252	+	Silent	SNP	A	A	T													cttccctacaggtttatggtAaaacaggcagagaacatctg							TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956252A>T	ENST00000588408.1	+	3	531	c.255A>T	c.(253-255)gtA>gtT	p.V85V	CNTD1_ENST00000588527.1_Silent_p.V2V	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	85	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTTTATGGTAAAACAGGCAG	0.438																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(253-255)gtA>gtT		cyclin N-terminal domain containing 1							72	71	71					17																	40956252		2203	4300	6503	SO:0001819	synonymous_variant	124817							g.chr17:40956252A>T	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.255A>T	17.37:g.40956252A>T						CNTD1_ENST00000588527.1_Silent_p.V2V	p.V85V	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	3	531	+		Breast(137;0.00104)	85			Cyclin N-terminal.		Q658Q6|Q8NEP1	Silent	SNP	ENST00000588408.1	37	c.255A>T	CCDS11440.1																																																																																				0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		29	35	0	0	0	1	0	29	35					T	40956252	A	T	40956252	2	4	342	1	0	0	0	0	0	0	0	1	3635	349	13	5		5	CNTD1	17	40956252	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	33378676	40956252	40238958	36	33007	146	2									
CNTD1	124817	broad.mit.edu	37	chr17	40956254	40956254	+	Missense_Mutation	SNP	A	A	T													tccctacaggtttatggtaaAacaggcagagaacatctgca							TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956254A>T	ENST00000588408.1	+	3	533	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNTD1_ENST00000588527.1_Missense_Mutation_p.K3I	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	86	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTATGGTAAAACAGGCAGAG	0.438																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(256-258)aAa>aTa		cyclin N-terminal domain containing 1							73	71	72					17																	40956254		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40956254A>T	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.257A>T	17.37:g.40956254A>T	ENSP00000465204:p.Lys86Ile					CNTD1_ENST00000588527.1_Missense_Mutation_p.K3I	p.K86I	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	3	533	+		Breast(137;0.00104)	86			Cyclin N-terminal.		Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.257A>T	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031448	0.35797	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.36	5.36	0.76844	Cyclin-like (2);	0.216802	0.46442	D	0.000298	T	0.50905	0.1643	M	0.66939	2.045	0.37965	D	0.933083	P	0.48764	0.915	B	0.39904	0.313	T	0.64084	-0.6490	9	0.66056	D	0.02	-20.9404	13.0873	0.59149	1.0:0.0:0.0:0.0	.	86	Q8N815	CNTD1_HUMAN	I	86	.	ENSP00000316647:K86I	K	+	2	0	CNTD1	38209780	1.000000	0.71417	0.988000	0.46212	0.176000	0.22953	3.047000	0.49854	2.037000	0.60232	0.528000	0.53228	AAA		0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		27	36	0	0	0	1	0	27	36					T	40956254	A	T	40956254	3	4	342	1	0	0	0	0	1	0	0	0	3635	14	1	5	267	5	CNTD1	17	40956254	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	2	40956254	40238956	37	33008	146	2									
CARD14	79092	broad.mit.edu	37	chr17	78169012	78169012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctcttgtcggacctgaGtgccacgtccagccgcgagc	12	15	2	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:78169012G>A	ENST00000573882.1	+	12	1915	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	CARD14_ENST00000344227.2_Missense_Mutation_p.S460N|CARD14_ENST00000392434.2_Missense_Mutation_p.S223N|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.S460N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	460					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGGACCTGAGTGCCACGTCC	0.677																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1378-1380)aGt>aAt		caspase recruitment domain family, member 14							41	40	40					17																	78169012		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78169012G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1379G>A	17.37:g.78169012G>A	ENSP00000458715:p.Ser460Asn					CARD14_ENST00000344227.2_Missense_Mutation_p.S460N|CARD14_ENST00000392434.2_Missense_Mutation_p.S223N|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.S460N	p.S460N			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		12	1915	+	all_neural(118;0.0952)		460					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1379G>A	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	5.751	0.322984	0.10900	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.37411	1.2;1.2	4.59	3.26	0.37387	.	0.894418	0.09648	N	0.774039	T	0.26991	0.0661	L	0.33485	1.01	0.32027	N	0.600055	B;B;B	0.14438	0.002;0.01;0.0	B;B;B	0.15484	0.002;0.013;0.002	T	0.29366	-1.0014	10	0.25751	T	0.34	-3.6864	8.0388	0.30508	0.1593:0.0:0.8407:0.0	.	460;223;460	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	N	460;223;223	ENSP00000344549:S460N;ENSP00000376229:S223N	ENSP00000308507:S223N	S	+	2	0	CARD14	75783607	0.084000	0.21492	0.414000	0.26521	0.014000	0.08584	0.080000	0.14802	0.782000	0.33613	0.655000	0.94253	AGT		0.677	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			14	58	0	0	0	1	0	14	58					A	78169012	G	A	78169012	3	1	342	1	0	0	0	0	1	0	0	0	2646	1029	36	2	1413	2	CARD14	17	78169012	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	37212758	78169012	3026198	38	33009											
HGS	9146	broad.mit.edu	37	chr17	79653396	79653396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaacgacaagaacccacaCgtcgccttgtatgccctgga	9	14	1	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:79653396C>T	ENST00000329138.4	+	3	312	c.177C>T	c.(175-177)caC>caT	p.H59H	ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000576135.1_5'Flank|ARL16_ENST00000570561.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	59	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				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)			AGAACCCACACGTCGCCTTGT	0.483																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(175-177)caC>caT		hepatocyte growth factor-regulated tyrosine kinase substrate							138	112	121					17																	79653396		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79653396C>T	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.177C>T	17.37:g.79653396C>T							p.H59H	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		3	312	+	all_neural(118;0.0878)|all_lung(278;0.23)		59			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.177C>T	CCDS11784.1																																																																																				0.483	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		3	47	0	0	0	1	0	3	47					T	79653396	C	T	79653396	2	4	342	1	0	0	0	0	0	0	0	1	7087	535	19	1		1	HGS	17	79653396	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1484384	79653396	1541814	39	33010											
PAK4	10298	broad.mit.edu	37	chr19	39664275	39664275	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggggcctggccatcccccaGtcctcctcctcctcctcccg	9	22	0	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr19:39664275G>C	ENST00000593690.1	+	6	1150	c.723G>C	c.(721-723)caG>caC	p.Q241H	PAK4_ENST00000599470.1_Missense_Mutation_p.Q88H|PAK4_ENST00000358301.3_Missense_Mutation_p.Q241H|PAK4_ENST00000599386.1_Missense_Mutation_p.Q88H|PAK4_ENST00000321944.4_Missense_Mutation_p.Q151H|PAK4_ENST00000435673.2_Missense_Mutation_p.Q241H|PAK4_ENST00000360442.3_Missense_Mutation_p.Q241H	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	241	Linker.				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)			CCATCCCCCAGTCCTCCTCCT	0.701																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(262-264)caG>caC		p21 protein (Cdc42/Rac)-activated kinase 4							9	12	11					19																	39664275		2120	4176	6296	SO:0001583	missense	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664275G>C	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.723G>C	19.37:g.39664275G>C	ENSP00000469413:p.Gln241His					PAK4_ENST00000599470.1_Missense_Mutation_p.Q88H|PAK4_ENST00000360442.3_Missense_Mutation_p.Q241H|PAK4_ENST00000435673.2_Missense_Mutation_p.Q241H|PAK4_ENST00000358301.3_Missense_Mutation_p.Q241H|PAK4_ENST00000321944.4_Missense_Mutation_p.Q151H|PAK4_ENST00000593690.1_Missense_Mutation_p.Q241H	p.Q88H	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	445	+	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)		241			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.264G>C	CCDS12528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.311|2.311	-0.357928|-0.357928	0.05138|0.05138	.|.	.|.	ENSG00000130669|ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000435673;ENST00000360442|ENST00000542377	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	4.14|4.14	1.86|1.86	0.25419|0.25419	.|.	0.965541|.	0.08617|.	N|.	0.919119|.	T|T	0.15003|0.15003	0.0362|0.0362	N|N	0.08118|0.08118	0|0	0.19945|0.19945	N|N	0.999946|0.999946	D;B;B|.	0.52996|.	0.957;0.0;0.0|.	D;B;B|.	0.65443|.	0.935;0.0;0.0|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|6	0.41790|0.12766	T|T	0.15|0.61	.|.	5.6166|5.6166	0.17434|0.17434	0.1131:0.2003:0.6865:0.0|0.1131:0.2003:0.6865:0.0	.|.	151;88;241|.	O96013-4;O96013-3;O96013|.	.;.;PAK4_HUMAN|.	H|T	241;88;45;241;241|17	ENSP00000351049:Q241H;ENSP00000392753:Q241H;ENSP00000353625:Q241H|.	ENSP00000326864:Q88H|ENSP00000443258:S17T	Q|S	+|+	3|2	2|0	PAK4|PAK4	44356115|44356115	1.000000|1.000000	0.71417|0.71417	0.533000|0.533000	0.28001|0.28001	0.038000|0.038000	0.13279|0.13279	2.194000|2.194000	0.42668|0.42668	0.958000|0.958000	0.37956|0.37956	0.561000|0.561000	0.74099|0.74099	CAG|AGT		0.701	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			3	29	0	0	0	1	0	3	29					C	39664275	G	C	39664275	3	2	342	1	0	0	0	0	1	0	0	0	11403	1020	36	4	733	4	PAK4	19	39664275	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		39664275	19464708	40	33011											
CTNNBL1	56259	broad.mit.edu	37	chr20	36431347	36431347	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaggcacagacaactgCcataagtttgttgacattct	8	11	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:36431347C>A	ENST00000361383.6	+	11	1227	c.1110C>A	c.(1108-1110)tgC>tgA	p.C370*	CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.C118*|CTNNBL1_ENST00000405275.2_Nonsense_Mutation_p.C343*|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.C183*	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	370					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACAACTGCCATAAGTTTG	0.478																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1027-1029)tgC>tgA		catenin, beta like 1							134	122	126					20																	36431347		2203	4300	6503	SO:0001587	stop_gained	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36431347C>A	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1110C>A	20.37:g.36431347C>A	ENSP00000355050:p.Cys370*					CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.C118*|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Nonsense_Mutation_p.C370*|CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.C183*	p.C343*			Q8WYA6	CTBL1_HUMAN			12	1272	+		Myeloproliferative disorder(115;0.00878)	370					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Nonsense_Mutation	SNP	ENST00000361383.6	37	c.1029C>A	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	38	6.977638	0.97975	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	.	.	.	5.52	1.48	0.22813	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7802	9.554	0.39328	0.0:0.5901:0.0:0.4099	.	.	.	.	X	370;343;183;118	.	ENSP00000355050:C370X	C	+	3	2	CTNNBL1	35864761	0.105000	0.21958	0.995000	0.50966	0.964000	0.63967	-0.418000	0.07080	0.049000	0.15920	-0.379000	0.06801	TGC		0.478	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		5	82	1	0	1.23904e-05	1	1.23904e-05	5	82					A	36431347	C	A	36431347	4	1	342	1	0	0	0	0	0	1	0	0	4018	747	26	4	1152	4	CTNNBL1	20	36431347	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		36431347	26594173	41	33012											
TPTE	7179	broad.mit.edu	37	chr21	10907011	10907011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttttgtttatgtagaTtatccaattcattttttggt	7	4	1	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr21:10907011T>A	ENST00000361285.4	-	24	1879	c.1550A>T	c.(1549-1551)aAt>aTt	p.N517I	TPTE_ENST00000342420.5_Missense_Mutation_p.N479I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.N499I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	517	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATGTAGATTATCCAATTC	0.368																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1495-1497)aAt>aTt		transmembrane phosphatase with tensin homology							104	92	96					21																	10907011		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10907011T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1550A>T	21.37:g.10907011T>A	ENSP00000355208:p.Asn517Ile					TPTE_ENST00000342420.5_Missense_Mutation_p.N479I|TPTE_ENST00000361285.4_Missense_Mutation_p.N517I|TPTE_ENST00000415664.2_5'UTR	p.N499I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1863	-			517			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1496A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.06	1.526310	0.27299	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85339	-1.97;-1.97;-1.97	2.39	2.39	0.29439	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.90920	0.7146	M	0.82630	2.6	0.52099	D	0.999949	D;D;P	0.89917	1.0;1.0;0.621	D;D;P	0.91635	0.999;0.999;0.684	D	0.90365	0.4376	10	0.62326	D	0.03	-35.6717	8.6793	0.34198	0.0:0.0:0.0:1.0	.	479;499;517	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	499;517;479	ENSP00000298232:N499I;ENSP00000355208:N517I;ENSP00000344441:N479I	ENSP00000298232:N499I	N	-	2	0	TPTE	9928882	1.000000	0.71417	0.786000	0.31890	0.076000	0.17211	4.449000	0.60034	1.339000	0.45563	0.155000	0.16302	AAT		0.368	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	91	0	0	0	1	0	4	91					A	10907011	T	A	10907011	3	1	342	1	0	0	0	0	1	0	0	0	16427	1493	52	5	109	5	TPTE	21	10907011	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08		10907011	37222884	42	33013											
DOCK11	139818	broad.mit.edu	37	chrX	117695460	117695460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttgcatctacttggacGcctgcattgatgttgttcag	11	8	2	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:117695460G>A	ENST00000276202.7	+	7	736	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DOCK11_ENST00000276204.6_Missense_Mutation_p.A225T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	225	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CTACTTGGACGCCTGCATTGA	0.378																																						ENST00000276204.6																			0				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						c.(673-675)Gcc>Acc		dedicator of cytokinesis 11							111	100	103					X																	117695460		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117695460G>A	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.673G>A	X.37:g.117695460G>A	ENSP00000276202:p.Ala225Thr					DOCK11_ENST00000276202.7_Missense_Mutation_p.A225T	p.A225T			Q5JSL3	DOC11_HUMAN			7	747	+			225			PH.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.673G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	g	16.89	3.246065	0.59103	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75050	-0.9;-0.9	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112981	0.64402	D	0.000009	T	0.64800	0.2631	N	0.22421	0.69	0.45946	D	0.998774	P	0.52692	0.955	P	0.47786	0.557	T	0.61317	-0.7087	10	0.19590	T	0.45	-3.0982	11.9397	0.52894	0.0:0.0:0.7017:0.2983	.	225	Q5JSL3	DOC11_HUMAN	T	225	ENSP00000276204:A225T;ENSP00000276202:A225T	ENSP00000276202:A225T	A	+	1	0	DOCK11	117579488	1.000000	0.71417	0.960000	0.40013	0.930000	0.56654	4.574000	0.60900	2.405000	0.81733	0.417000	0.27973	GCC		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		16	32	0	0	0	1	0	16	32					A	117695460	G	A	117695460	3	1	342	1	0	0	0	0	1	0	0	0	4686	1087	38	1	699	1	DOCK11	23	117695460	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		117695460	37575100	43	33014											
C8B	732	broad.mit.edu	37	chr1	57422478	57422478	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagccttcacatcgcacttGacttccgcatggtctgttgg	9	12	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:57422478G>C	ENST00000371237.4	-	3	421	c.355C>G	c.(355-357)Caa>Gaa	p.Q119E	C8B_ENST00000535057.1_Missense_Mutation_p.Q57E|C8B_ENST00000543257.1_Missense_Mutation_p.Q67E	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	119					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						CATCGCACTTGACTTCCGCAT	0.478																																						ENST00000543257.1																			0				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						c.(199-201)Caa>Gaa		complement component 8, beta polypeptide							361	340	347					1																	57422478		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57422478G>C	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.355C>G	1.37:g.57422478G>C	ENSP00000360281:p.Gln119Glu					C8B_ENST00000535057.1_Missense_Mutation_p.Q57E|C8B_ENST00000371237.4_Missense_Mutation_p.Q119E	p.Q67E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			4	765	-			119			TSP type-1 1.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.199C>G	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.030041	0.35797	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.25912	1.92;1.92;1.77	5.41	5.41	0.78517	.	0.641883	0.16756	N	0.200819	T	0.07954	0.0199	N	0.02120	-0.675	0.32367	N	0.556427	B;P;B	0.38370	0.118;0.628;0.144	B;B;B	0.31869	0.023;0.137;0.063	T	0.07385	-1.0775	10	0.02654	T	1	-17.7789	12.5129	0.56015	0.0:0.0:0.7274:0.2726	.	67;57;119	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	E	119;67;57	ENSP00000360281:Q119E;ENSP00000442548:Q67E;ENSP00000440113:Q57E	ENSP00000360281:Q119E	Q	-	1	0	C8B	57195066	0.610000	0.26983	0.998000	0.56505	0.942000	0.58702	2.696000	0.47052	2.712000	0.92718	0.650000	0.86243	CAA		0.478	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			16	422	0	0	0	1	0	16	422					C	57422478	G	C	57422478	3	2	343	1	0	0	0	0	1	0	0	0	2417	1299	45	4	1460	4	C8B	1	57422478	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		57422478	191828143	1	33015											
ASPM	259266	broad.mit.edu	37	chr1	197111767	197111768	+	Frame_Shift_Ins	INS	-	-	T													agataagaatgaaaatcttcINStttttccttttgattattta							TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:197111767_197111768insT	ENST00000367409.4	-	3	1870_1871	c.1614_1615insA	c.(1612-1617)aaagaafs	p.E539fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.E539fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	539					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						TGAAAATCTTCTTTTTCCTTTT	0.322																																						ENST00000367409.4																			0				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						c.(1612-1617)aaaagafs		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)																																				SO:0001589	frameshift_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111767_197111768insT	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.1615dupA	1.37:g.197111772_197111772dupT	ENSP00000356379:p.Glu539fs					ASPM_ENST00000294732.7_Frame_Shift_Ins_p.R539fs	p.R539fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	1870_1871	-			539					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	37	c.1614_1615insA	CCDS1389.1																																																																																				0.322	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		19	125						19	125	---	---	---	---	T	197111768	-	T	197111767	7	5	343	1	0	1	1	0	0	0	0	0	1056	922	32	0	8922	0	ASPM	1	197111767	Frame_Shift_Ins	INS	-	TCGA-HW-8321-01A-11D-2395-08	139689289	197111767	52138854	2	33016											
DNMT3A	1788	broad.mit.edu	37	chr2	25457209	25457209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggatgactggcacgctcCatgaccggcccagcagtctc	13	15	1	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:25457209C>T	ENST00000264709.3	-	23	3015	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W893*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W704*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W670*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893	S-adenosyl-L-methionine binding. {ECO:0000305}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)	p.W893S(1)		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)					TGGCACGCTCCATGACCGGCC	0.557			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.W893S(1)	haematopoietic_and_lymphoid_tissue(1)	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						c.(2677-2679)tGg>tAg		DNA (cytosine-5-)-methyltransferase 3 alpha							67	62	63					2																	25457209		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25457209C>T		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.2678G>A	2.37:g.25457209C>T	ENSP00000264709:p.Trp893*					DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W704*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W893*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W670*	p.W893*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			23	3015	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		893					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.2678G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.141423	0.98675	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7817	18.6564	0.91455	0.0:1.0:0.0:0.0	.	.	.	.	X	704;893;893;670	.	ENSP00000264709:W893X	W	-	2	0	DNMT3A	25310713	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.745000	0.94114	0.561000	0.74099	TGG		0.557	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		22	48	0	0	0	1	0	22	48					T	25457209	C	T	25457209	4	4	343	1	0	0	0	0	0	1	0	0	4676	595	21	2	64	2	DNMT3A	2	25457209	Nonsense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		25457209	217742164	3	33017											
KIAA1841	84542	broad.mit.edu	37	chr2	61310289	61310289	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tattttctatgattttttagGttgaacagtgtattcagtat	7	3	2	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:61310289G>C	ENST00000402291.1	+	8	971	c.730G>C	c.(730-732)Gtt>Ctt	p.V244L	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Splice_Site_p.V244L|KIAA1841_ENST00000356719.2_Splice_Site_p.V244L|KIAA1841_ENST00000453873.1_Splice_Site_p.V244L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	244										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTTTTAGGTTGAACAGTG	0.318																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.e8-1		KIAA1841							86	83	84					2																	61310289		2203	4299	6502	SO:0001630	splice_region_variant	84542							g.chr2:61310289G>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.730-1G>C	2.37:g.61310289G>C						KIAA1841_ENST00000453873.1_Splice_Site_p.V244_splice|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Splice_Site_p.V244_splice|KIAA1841_ENST00000295031.5_Splice_Site_p.V244_splice	p.V244_splice	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		8	971	+			244					Q49AF0|Q6ZND0|Q96JI6	Splice_Site	SNP	ENST00000402291.1	37	c.729_splice	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280854	0.23392	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.16	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.55103	1.725	0.58432	D	0.999997	P;P;D	0.57257	0.897;0.86;0.979	P;P;P	0.53649	0.612;0.731;0.527	T	0.01375	-1.1371	9	.	.	.	-15.4953	9.4561	0.38756	0.0753:0.0:0.7816:0.1431	.	244;244;244	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	L	244	ENSP00000385579:V244L;ENSP00000295031:V244L;ENSP00000349154:V244L;ENSP00000416795:V244L	.	V	+	1	0	KIAA1841	61163793	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	9.588000	0.98232	0.665000	0.31066	-0.895000	0.02911	GTT		0.318	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	Missense_Mutation	15	41	0	0	0	1	0	15	41					C	61310289	G	C	61310289	5	2	343	1	0	0	0	0	0	0	1	0	8261	1275	44	4	752	4	KIAA1841	2	61310289	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	35853080	61310289	181889084	4	33018											
IL1RL2	8808	broad.mit.edu	37	chr2	102835531	102835531	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatccaaacgaatcagAgaaggggtggagtaggtgtt	15	4	1	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:102835531A>G	ENST00000264257.2	+	7	969	c.843A>G	c.(841-843)agA>agG	p.R281R	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.R163R|IL1RL2_ENST00000539491.1_Silent_p.R281R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	281	Ig-like C2-type 3.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AACGAATCAGAGAAGGGGTGG	0.403																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(841-843)agA>agG		interleukin 1 receptor-like 2							195	174	181					2																	102835531		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102835531A>G	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.843A>G	2.37:g.102835531A>G						IL1RL2_ENST00000441515.2_Silent_p.R163R|IL1RL2_ENST00000539491.1_Silent_p.R281R|IL1RL2_ENST00000481806.1_3'UTR	p.R281R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			7	969	+			281			Ig-like C2-type 3.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.843A>G	CCDS2056.1																																																																																				0.403	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		43	91	0	0	0	1	0	43	91					G	102835531	A	G	102835531	2	3	343	1	0	0	0	0	0	0	0	1	7664	301	11	3		3	IL1RL2	2	102835531	Silent	SNP	A	TCGA-HW-8321-01A-11D-2395-08	41525242	102835531	140363842	5	33019											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446647	107446647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatttgggtttctctgaCgatgctgaatatatggagtg	13	5	1	3	rs144935783		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:107446647C>T	ENST00000409382.3	-	5	1803	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R398H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R398H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	398					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R398H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTTCTCTGACGATGCTGAAT	0.353																																						ENST00000409382.3																			1	Substitution - Missense(1)	p.R398H(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1192-1194)cGt>cAt		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2		C	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	157	152	153		1193,1193,1193	6.1	1	2	dbSNP_134	153	0,8600		0,0,4300	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	398/530,398/467,398/530	107446647	2,13004	2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107446647C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1193G>A	2.37:g.107446647C>T	ENSP00000386942:p.Arg398His					ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R398H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R398H	p.R398H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			5	1803	-			398					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1193G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160885	0.94727	4.54E-4	0.0	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78595	-1.19;-1.19;-1.19	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.91252	0.5030	10	0.62326	D	0.03	-17.9674	19.609	0.95594	0.0:1.0:0.0:0.0	.	398;398	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	398	ENSP00000355273:R398H;ENSP00000386942:R398H;ENSP00000387332:R398H	ENSP00000355273:R398H	R	-	2	0	ST6GAL2	106813079	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGT		0.353	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		13	150	0	0	0	1	0	13	150					T	107446647	C	T	107446647	3	4	343	1	0	0	0	0	1	0	0	0	15221	536	19	1	491	1	ST6GAL2	2	107446647	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	4611116	107446647	135752726	6	33020											
ZNF804A	91752	broad.mit.edu	37	chr2	185801555	185801555	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataatctagataaaaataagCcagacttaaaagatctttgt	5	5	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:185801555C>G	ENST00000302277.6	+	4	2026	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	478							metal ion binding (GO:0046872)			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						TAAAAATAAGCCAGACTTAAA	0.343																																						ENST00000302277.6																			0				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						c.(1432-1434)Cca>Gca		zinc finger protein 804A							72	76	75					2																	185801555		2201	4300	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801555C>G	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.1432C>G	2.37:g.185801555C>G	ENSP00000303252:p.Pro478Ala						p.P478A	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2026	+			478					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1432C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0.718	-0.784535	0.02907	.	.	ENSG00000170396	ENST00000302277	T	0.05580	3.42	5.69	0.554	0.17241	.	1.217240	0.05964	N	0.641162	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.45469	-0.9259	10	0.42905	T	0.14	1.384	10.3511	0.43937	0.5077:0.3693:0.1231:0.0	.	478	Q7Z570	Z804A_HUMAN	A	478	ENSP00000303252:P478A	ENSP00000303252:P478A	P	+	1	0	ZNF804A	185509800	0.000000	0.05858	0.008000	0.14137	0.091000	0.18340	-0.500000	0.06405	-0.186000	0.10533	-0.181000	0.13052	CCA		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		18	130	0	0	0	1	0	18	130					G	185801555	C	G	185801555	3	3	343	1	0	0	0	0	1	0	0	0	18167	739	26	4	1446	4	ZNF804A	2	185801555	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	78354908	185801555	57397818	7	33021											
FZD5	7855	broad.mit.edu	37	chr2	208632020	208632020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggcaggcgcaggtgaGcgccgcctcccagctctcgc	15	18	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:208632020G>T	ENST00000295417.3	-	2	1997	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	482					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)		GCGCAGGTGAGCGCCGCCTCC	0.667																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1444-1446)Ctc>Atc		frizzled family receptor 5							17	14	15					2																	208632020		2144	4177	6321	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632020G>T	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.1444C>A	2.37:g.208632020G>T	ENSP00000354607:p.Leu482Ile						p.L482I	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1997	-			482					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1444C>A	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808807	0.31961	.	.	ENSG00000163251	ENST00000295417	D	0.82081	-1.57	5.21	4.3	0.51218	GPCR, family 2-like (1);	0.185795	0.38326	N	0.001730	T	0.80460	0.4627	L	0.49640	1.575	0.47214	D	0.999355	B	0.27068	0.167	B	0.32090	0.14	T	0.79598	-0.1737	10	0.48119	T	0.1	.	15.1451	0.72643	0.0:0.0:0.8583:0.1417	.	482	Q13467	FZD5_HUMAN	I	482	ENSP00000354607:L482I	ENSP00000354607:L482I	L	-	1	0	FZD5	208340265	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.765000	0.62271	2.421000	0.82119	0.491000	0.48974	CTC		0.667	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		7	30	1	0	8.12818e-05	1	8.2845e-05	7	30					T	208632020	G	T	208632020	3	4	343	1	0	0	0	0	1	0	0	0	6133	971	34	4	317	4	FZD5	2	208632020	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	22830465	208632020	34567353	8	33022											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			29	65	0	0	0	1	0	29	65					T	209113112	C	T	209113112	3	4	343	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	481092	209113112	34086261	9	33023											
TMEM40	55287	broad.mit.edu	37	chr3	12779642	12779642	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtatttaccacttgcTgggtcagagcctctccttcg	9	12	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:12779642T>G	ENST00000314124.7	-	7	773	c.417A>C	c.(415-417)ccA>ccC	p.P139P	TMEM40_ENST00000435575.1_Silent_p.P63P|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Silent_p.P139P|TMEM40_ENST00000435218.2_Silent_p.P109P|TMEM40_ENST00000431022.2_Silent_p.P155P	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	139						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TACCACTTGCTGGGTCAGAGC	0.557																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(415-417)ccA>ccC		transmembrane protein 40							87	81	83					3																	12779642		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12779642T>G	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.417A>C	3.37:g.12779642T>G						TMEM40_ENST00000431022.2_Silent_p.P155P|TMEM40_ENST00000435575.1_Silent_p.P63P|TMEM40_ENST00000435218.2_Silent_p.P109P|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Silent_p.P139P	p.P139P	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			7	773	-			139					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.417A>C	CCDS2613.1																																																																																				0.557	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		10	26	0	0	0	1	0	10	26					G	12779642	T	G	12779642	2	3	343	1	0	0	0	0	0	0	0	1	16160	1567	55	5		5	TMEM40	3	12779642	Silent	SNP	T	TCGA-HW-8321-01A-11D-2395-08		12779642	185242788	10	33024											
CMTM7	112616	broad.mit.edu	37	chr3	32483476	32483476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcttccgcttctaccgcGtgctcacctgtatcagctgg	8	16	4	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:32483476G>A	ENST00000334983.5	+	2	540	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	CMTM7_ENST00000349718.4_Missense_Mutation_p.V102M	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	102	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						CTTCTACCGCGTGCTCACCTG	0.537																																						ENST00000334983.5																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(304-306)Gtg>Atg		CKLF-like MARVEL transmembrane domain containing 7							164	138	147					3																	32483476		2203	4300	6503	SO:0001583	missense	0				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32483476G>A	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"chemokine-like factor super family 7", "chemokine-like factor superfamily 7"	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.304G>A	3.37:g.32483476G>A	ENSP00000335605:p.Val102Met					CMTM7_ENST00000349718.4_Missense_Mutation_p.V102M	p.V102M	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN			2	540	+			102			MARVEL.		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.304G>A	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291818	0.23564	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.26373	1.74	5.5	-2.0	0.07433	Marvel (1);MARVEL-like domain (1);	0.911531	0.09287	N	0.822954	T	0.09686	0.0238	N	0.11201	0.11	0.09310	N	1	B;B	0.33494	0.414;0.174	B;B	0.18561	0.021;0.022	T	0.26608	-1.0098	10	0.27785	T	0.31	.	6.9637	0.24611	0.5413:0.1244:0.3343:0.0	.	102;102	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	M	102;102;58	ENSP00000335605:V102M	ENSP00000335605:V102M	V	+	1	0	CMTM7	32458480	0.001000	0.12720	0.123000	0.21794	0.957000	0.61999	-0.090000	0.11163	-0.195000	0.10382	-0.194000	0.12790	GTG		0.537	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			10	116	0	0	0	1	0	10	116					A	32483476	G	A	32483476	3	1	343	1	0	0	0	0	1	0	0	0	3588	1145	40	1	310	1	CMTM7	3	32483476	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19703834	32483476	165538954	11	33025											
DAG1	1605	broad.mit.edu	37	chr3	49569023	49569023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggctcctccagtcagggAtcctgttcctgggaaaccca	10	14	1	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49569023A>G	ENST00000539901.1	+	3	1637	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	DAG1_ENST00000308775.2_Missense_Mutation_p.D360G|DAG1_ENST00000538711.1_Missense_Mutation_p.D360G|DAG1_ENST00000515359.2_Missense_Mutation_p.D360G|DAG1_ENST00000541308.1_Missense_Mutation_p.D360G|DAG1_ENST00000545947.1_Missense_Mutation_p.D360G	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	360	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)		CCAGTCAGGGATCCTGTTCCT	0.602																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1078-1080)gAt>gGt		dystroglycan 1 (dystrophin-associated glycoprotein 1)							90	91	91					3																	49569023		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569023A>G	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.1079A>G	3.37:g.49569023A>G	ENSP00000439334:p.Asp360Gly					DAG1_ENST00000541308.1_Missense_Mutation_p.D360G|DAG1_ENST00000539901.1_Missense_Mutation_p.D360G|DAG1_ENST00000538711.1_Missense_Mutation_p.D360G|DAG1_ENST00000515359.2_Missense_Mutation_p.D360G|DAG1_ENST00000308775.2_Missense_Mutation_p.D360G	p.D360G	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1801	+			360			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1079A>G	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480662	0.26598	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.74	5.74	0.90152	.	0.091996	0.85682	D	0.000000	T	0.13200	0.0320	N	0.00347	-1.61	0.38761	D	0.954336	B	0.19445	0.036	B	0.11329	0.006	T	0.28808	-1.0032	9	.	.	.	-18.0868	15.0194	0.71617	1.0:0.0:0.0:0.0	.	360	Q14118	DAG1_HUMAN	G	360	ENSP00000440705:D360G;ENSP00000312435:D360G;ENSP00000442600:D360G;ENSP00000440590:D360G;ENSP00000439334:D360G;ENSP00000438421:D360G	.	D	+	2	0	DAG1	49544027	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.128000	0.71650	2.183000	0.69458	0.533000	0.62120	GAT		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			35	191	0	0	0	1	0	35	191					G	49569023	A	G	49569023	3	3	343	1	0	0	0	0	1	0	0	0	4225	333	12	3	1085	3	DAG1	3	49569023	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	17085547	49569023	148453407	12	33026											
KTELC1	56983	broad.mit.edu	37	chr3	119204196	119204196	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcagcacagtggccatgGaaaaagaaaaactctacagc	9	10	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:119204196G>A	ENST00000295588.4	+	6	684	c.600G>A	c.(598-600)tgG>tgA	p.W200*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	200					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AGTGGCCATGGAAAAAGAAAA	0.299																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(598-600)tgG>tgA		protein O-glucosyltransferase 1							102	112	108					3																	119204196		2203	4300	6503	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119204196G>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.600G>A	3.37:g.119204196G>A	ENSP00000295588:p.Trp200*						p.W200*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			6	684	+			200					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.600G>A	CCDS2988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661032|2.661032	0.47572|0.47572	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000476573|ENST00000295588	.|.	.|.	.|.	5.32|5.32	4.44|4.44	0.53790|0.53790	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32585|.	0.0834|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35500|.	-0.9786|.	3|.	.|0.02654	.|T	.|1	-9.3647|-9.3647	12.3599|12.3599	0.55197|0.55197	0.0:0.1697:0.8303:0.0|0.0:0.1697:0.8303:0.0	.|.	.|.	.|.	.|.	K|X	187|200	.|.	.|ENSP00000295588:W200X	E|W	+|+	1|3	0|0	POGLUT1|POGLUT1	120686886|120686886	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	6.645000|6.645000	0.74343|0.74343	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.299	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		12	44	0	0	0	1	0	12	44					A	119204196	G	A	119204196	4	1	343	1	0	0	0	0	0	1	0	0	8583	1183	41	2	622	2	KTELC1	3	119204196	Nonsense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	69635173	119204196	78818234	13	33027											
ARMC8	25852	broad.mit.edu	37	chr3	137982663	137982663	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggttagctgccgtcaGgtatgagctttaaatggtct	14	7	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:137982663G>C	ENST00000469044.1	+	13	1488	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000461822.1_Splice_Site_p.R339T|ARMC8_ENST00000485396.1_Splice_Site_p.R333T|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000481646.1_Splice_Site_p.R392T|ARMC8_ENST00000393058.3_Splice_Site_p.R396T|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R364T|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000538260.1_Splice_Site_p.R375T	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	406										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTGCCGTCAGGTATGAGCTT	0.398																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.e13+1		armadillo repeat containing 8							171	165	167					3																	137982663		1898	4115	6013	SO:0001630	splice_region_variant	25852						binding	g.chr3:137982663G>C		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.1217+1G>C	3.37:g.137982663G>C						NME9_ENST00000484930.1_Intron|ARMC8_ENST00000538260.1_Splice_Site_p.R375_splice|ARMC8_ENST00000393058.3_Splice_Site_p.R396_splice|ARMC8_ENST00000481646.1_Splice_Site_p.R392_splice|ARMC8_ENST00000485396.1_Splice_Site_p.R333_splice|NME9_ENST00000317876.4_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000461822.1_Splice_Site_p.R339_splice|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R364_splice|NME9_ENST00000536478.1_Intron	p.R406_splice	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN			13	1488	+			406					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Splice_Site	SNP	ENST00000469044.1	37	c.1217_splice		.	.	.	.	.	.	.	.	.	.	G	19.38	3.816266	0.70912	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;1.23;1.23;1.23;-0.23;1.55	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.67953	2.075	0.80722	D	1	B;D;B;B;B	0.54207	0.264;0.965;0.441;0.118;0.383	B;P;B;B;B	0.50049	0.072;0.629;0.198;0.037;0.151	T	0.69917	-0.5015	10	0.28530	T	0.3	-36.4916	17.4377	0.87557	0.0:0.0:1.0:0.0	.	333;339;375;406;392	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	T	392;406;364;339;333;375;396;300;263	ENSP00000420333:R392T;ENSP00000419413:R406T;ENSP00000417304:R364T;ENSP00000420706:R339T;ENSP00000417049:R333T;ENSP00000441592:R375T;ENSP00000376778:R396T;ENSP00000417403:R300T	ENSP00000376778:R396T	R	+	2	0	ARMC8	139465353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.960000	0.93117	2.706000	0.92434	0.561000	0.74099	AGA		0.398	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	Missense_Mutation	6	131	0	0	0	1	0	6	131					C	137982663	G	C	137982663	5	2	343	1	0	0	0	0	0	0	1	0	957	1014	35	4	1291	4	ARMC8	3	137982663	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	18778467	137982663	60039767	14	33028											
AP2M1	1173	broad.mit.edu	37	chr3	183898930	183898930	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagagctacctgagtgGcatgcctgaatgcaagtttg	13	7	0	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:183898930G>C	ENST00000292807.5	+	7	771	c.623G>C	c.(622-624)gGc>gCc	p.G208A	AP2M1_ENST00000439647.1_Missense_Mutation_p.G206A|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.G206A|AP2M1_ENST00000411763.2_Missense_Mutation_p.G233A	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	208	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				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)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|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)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGAGTGGCATGCCTGAA	0.537																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(616-618)gGc>gCc		adaptor-related protein complex 2, mu 1 subunit							155	165	162					3																	183898930		2115	4224	6339	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183898930G>C	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.623G>C	3.37:g.183898930G>C	ENSP00000292807:p.Gly208Ala					AP2M1_ENST00000292807.5_Missense_Mutation_p.G208A|AP2M1_ENST00000411763.2_Missense_Mutation_p.G233A|AP2M1_ENST00000439647.1_Missense_Mutation_p.G206A|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	p.G206A	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	931	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		208			MHD.		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.617G>C	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761125	0.89932	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	6.07	6.07	0.98685	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	H	0.98466	4.24	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;0.999;1.0;1.0	D	0.87045	0.2143	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	98;78;208;206	B7Z4N2;B4DTI4;Q96CW1;Q96CW1-2	.;.;AP2M1_HUMAN;.	A	206;233;208;148;193;206	ENSP00000371894:G206A;ENSP00000403362:G233A;ENSP00000292807:G208A;ENSP00000409081:G206A	ENSP00000292807:G208A	G	+	2	0	AP2M1	185381624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.102000	0.94226	2.884000	0.98904	0.655000	0.94253	GGC		0.537	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		35	199	0	0	0	1	0	35	199					C	183898930	G	C	183898930	3	2	343	1	0	0	0	0	1	0	0	0	742	1203	42	4	642	4	AP2M1	3	183898930	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	45916267	183898930	14123500	15	33029											
FGFR4	2264	broad.mit.edu	37	chr5	176517585	176517585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcctacctgaggatGctggccgctacctctgcctg	10	16	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr5:176517585G>T	ENST00000292408.4	+	3	531	c.286G>T	c.(286-288)Gct>Tct	p.A96S	FGFR4_ENST00000393648.2_Missense_Mutation_p.A96S|FGFR4_ENST00000502906.1_Missense_Mutation_p.A96S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A96S|FGFR4_ENST00000292410.3_Missense_Mutation_p.A96S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	96	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	ACCTGAGGATGCTGGCCGCTA	0.607										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(286-288)Gct>Tct		fibroblast growth factor receptor 4	Palifermin(DB00039)						43	44	44					5																	176517585		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176517585G>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.286G>T	5.37:g.176517585G>T	ENSP00000292408:p.Ala96Ser	TSP Lung(9;0.080)				FGFR4_ENST00000502906.1_Missense_Mutation_p.A96S|FGFR4_ENST00000393648.2_Missense_Mutation_p.A96S|FGFR4_ENST00000292410.3_Missense_Mutation_p.A96S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A96S	p.A96S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	531	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	96			Ig-like C2-type 1.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.286G>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356782	0.41801	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000514472;ENST00000502906;ENST00000292410;ENST00000513166;ENST00000393637;ENST00000377207	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.87	3.03	0.35002	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	0.060112	0.64402	D	0.000003	T	0.60483	0.2272	N	0.21194	0.64	0.28841	N	0.896626	B;B;B;B;B	0.26041	0.074;0.14;0.092;0.033;0.001	B;B;B;B;B	0.26416	0.058;0.065;0.069;0.068;0.004	T	0.50550	-0.8815	10	0.02654	T	1	.	6.24	0.20785	0.0897:0.0:0.5147:0.3956	.	96;96;96;96;96	B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.;.;.;.;FGFR4_HUMAN	S	96;96;96;96;96;96;96;96;172	ENSP00000292408:A96S;ENSP00000424905:A96S;ENSP00000377259:A96S;ENSP00000426492:A96S;ENSP00000424960:A96S;ENSP00000292410:A96S;ENSP00000422889:A96S;ENSP00000377254:A96S	ENSP00000292408:A96S	A	+	1	0	FGFR4	176450191	1.000000	0.71417	0.992000	0.48379	0.859000	0.49053	2.866000	0.48420	0.435000	0.26365	0.313000	0.20887	GCT		0.607	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			22	86	1	0	3.62473e-10	1	3.76688e-10	22	86					T	176517585	G	T	176517585	3	4	343	1	0	0	0	0	1	0	0	0	5868	1319	46	4	292	4	FGFR4	5	176517585	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		176517585	4397675	16	33030											
TRIM15	89870	broad.mit.edu	37	chr6	30134981	30134981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagtcgactggaagctcTgagcacggagagagatgaga	16	7	1	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:30134981T>C	ENST00000376694.4	+	2	879	c.410T>C	c.(409-411)cTg>cCg	p.L137P	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	137					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGAAGCTCTGAGCACGGAG	0.453																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(409-411)cTg>cCg		tripartite motif containing 15							132	119	124					6																	30134981		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30134981T>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	protein-coding gene	gene with protein product			"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.410T>C	6.37:g.30134981T>C	ENSP00000365884:p.Leu137Pro					TRIM15_ENST00000376688.1_Intron	p.L137P	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			2	879	+			137					A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.410T>C	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618008	0.28801	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.75938	-0.98	5.53	4.37	0.52481	.	0.190452	0.25366	N	0.031184	T	0.77465	0.4134	M	0.83774	2.66	0.21652	N	0.999606	D	0.69078	0.997	D	0.63597	0.916	T	0.72225	-0.4355	10	0.87932	D	0	.	8.048	0.30562	0.0:0.0917:0.0:0.9083	.	137	Q9C019	TRI15_HUMAN	P	68;137	ENSP00000365884:L137P	ENSP00000365884:L137P	L	+	2	0	TRIM15	30242960	0.005000	0.15991	0.514000	0.27761	0.021000	0.10359	1.059000	0.30517	0.945000	0.37605	0.523000	0.50628	CTG		0.453	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		15	69	0	0	0	1	0	15	69					C	30134981	T	C	30134981	3	2	343	1	0	0	0	0	1	0	0	0	16487	1580	55	3	416	3	TRIM15	6	30134981	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08		30134981	140980086	17	33031											
TNXB	7148	broad.mit.edu	37	chr6	32018082	32018082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgcttgggtggtctcGgcttcatcctttggagctgg	15	10	2	0	rs544342649		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:32018082G>A	ENST00000375244.3	-	27	9333	c.9132C>T	c.(9130-9132)gcC>gcT	p.A3044A	TNXB_ENST00000375247.2_Silent_p.A3042A			P22105	TENX_HUMAN	tenascin XB	3089	Fibronectin type-III 22. {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						GGGTGGTCTCGGCTTCATCCT	0.597													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13615	0.0		0.0	False		,,,				2504	0.0					ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9130-9132)gcC>gcT		tenascin XB							83	97	92					6																	32018082		1352	2597	3949	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32018082G>A	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.9132C>T	6.37:g.32018082G>A						TNXB_ENST00000375247.2_Silent_p.A3042A	p.A3044A			P22105	TENX_HUMAN			27	9333	-			3089			Fibronectin type-III 22.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9132C>T																																																																																					0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		37	63	0	0	0	1	0	37	63					A	32018082	G	A	32018082	2	1	343	1	0	0	0	0	0	0	0	1	16343	1103	39	1		1	TNXB	6	32018082	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08	1883101	32018082	139096985	18	33032											
GPR63	81491	broad.mit.edu	37	chr6	97246405	97246405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactaggacgtatccgtcgCtttgtgtgaccagggagctg	14	10	0	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:97246405C>T	ENST00000229955.3	-	2	1548	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	GPR63_ENST00000417980.1_Silent_p.K401K|RP3-417O22.3_ENST00000442184.1_RNA	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	401						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)		GTATCCGTCGCTTTGTGTGAC	0.478																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1201-1203)aaG>aaA		G protein-coupled receptor 63							139	116	124					6																	97246405		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246405C>T	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.1203G>A	6.37:g.97246405C>T						GPR63_ENST00000417980.1_Silent_p.K401K	p.K401K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1548	-		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)	401					Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.1203G>A	CCDS5036.1																																																																																				0.478	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			35	64	0	0	0	1	0	35	64					T	97246405	C	T	97246405	2	4	343	1	0	0	0	0	0	0	0	1	6704	796	28	2		2	GPR63	6	97246405	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08	65228323	97246405	73868662	19	33033											
ZNF804B	219578	broad.mit.edu	37	chr7	88964578	88964578	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acggaaatgtctaaagcacaActgcttctacttgtctgatg	8	9	3	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:88964578A>C	ENST00000333190.4	+	4	2891	c.2282A>C	c.(2281-2283)aAc>aCc	p.N761T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	761							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)			CTAAAGCACAACTGCTTCTAC	0.383										HNSCC(36;0.09)																												ENST00000333190.4																			0				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						c.(2281-2283)aAc>aCc		zinc finger protein 804B							70	62	65					7																	88964578		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964578A>C	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.2282A>C	7.37:g.88964578A>C	ENSP00000329638:p.Asn761Thr	HNSCC(36;0.09)					p.N761T	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2891	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		761					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2282A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	2.269	-0.367520	0.05069	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.39	-1.66	0.08265	.	1.013420	0.07891	N	0.971256	T	0.04182	0.0116	N	0.17082	0.46	0.22926	N	0.99855	B	0.21071	0.051	B	0.14578	0.011	T	0.44452	-0.9327	10	0.38643	T	0.18	-1.1779	8.2382	0.31638	0.5589:0.3641:0.077:0.0	.	761	A4D1E1	Z804B_HUMAN	T	761	ENSP00000329638:N761T	ENSP00000329638:N761T	N	+	2	0	ZNF804B	88802514	0.147000	0.22687	0.018000	0.16275	0.140000	0.21249	0.567000	0.23608	-0.396000	0.07703	0.528000	0.53228	AAC		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		24	43	0	0	0	1	0	24	43					C	88964578	A	C	88964578	3	2	343	1	0	0	0	0	1	0	0	0	18168	43	2	5	2296	5	ZNF804B	7	88964578	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08		88964578	70174085	20	33034											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97941545	97941545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacaggtctcctgccacCgaggcagcttggaattcagt	10	13	2	0	rs369904739		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:97941545C>T	ENST00000005260.8	-	8	886	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	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	224	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				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)			CTCCTGCCACCGAGGCAGCTT	0.448																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(670-672)cGg>cAg		BAI1-associated protein 2-like 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	147	155	152		671	2.9	0.3	7		152	0,8600		0,0,4300	no	missense	BAIAP2L1	NM_018842.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	224/512	97941545	1,13005	2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97941545C>T	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.671G>A	7.37:g.97941545C>T	ENSP00000005260:p.Arg224Gln					BAIAP2L1_ENST00000462558.1_5'UTR	p.R224Q	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	886	-	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)		224			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.671G>A	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317224	0.23908	2.27E-4	0.0	ENSG00000006453	ENST00000005260	T	0.21734	1.99	5.02	2.9	0.33743	IRSp53/MIM homology domain (IMD) (3);	0.320683	0.40385	N	0.001106	T	0.10252	0.0251	N	0.22421	0.69	0.09310	N	1	P	0.39116	0.66	B	0.34991	0.193	T	0.20405	-1.0276	10	0.12430	T	0.62	-13.8922	7.446	0.27211	0.0:0.6772:0.0:0.3228	.	224	Q9UHR4	BI2L1_HUMAN	Q	224	ENSP00000005260:R224Q	ENSP00000005260:R224Q	R	-	2	0	AC093799.1	97779481	0.000000	0.05858	0.308000	0.25141	0.791000	0.44710	0.308000	0.19314	1.109000	0.41680	0.563000	0.77884	CGG		0.448	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		17	215	0	0	0	1	0	17	215					T	97941545	C	T	97941545	3	4	343	1	0	0	0	0	1	0	0	0	1302	652	23	1	892	1	BAIAP2L1	7	97941545	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	8976967	97941545	61197118	21	33035											
MYO3A	53904	broad.mit.edu	37	chr10	26285470	26285470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggatttctgaagaggGgtgaaagaatgagtgagcct	15	3	1	7			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr10:26285470G>A	ENST00000265944.5	+	5	521	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	MYO3A_ENST00000376302.1_Missense_Mutation_p.G119S|MYO3A_ENST00000543632.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376301.1_Missense_Mutation_p.G119S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAAGAGGGGTGAAAGAAT	0.353																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(355-357)Ggt>Agt		myosin IIIA							125	121	123					10																	26285470		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26285470G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.355G>A	10.37:g.26285470G>A	ENSP00000265944:p.Gly119Ser					MYO3A_ENST00000376302.1_Missense_Mutation_p.G119S|MYO3A_ENST00000543632.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376301.1_Missense_Mutation_p.G119S	p.G119S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			5	521	+			119			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.355G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963143	0.92791	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.49	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046372	0.85682	D	0.000000	T	0.70500	0.3231	L	0.36672	1.1	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.818	D;D;D;P	0.91635	0.999;0.999;0.996;0.784	T	0.73177	-0.4065	10	0.66056	D	0.02	.	13.7594	0.62956	0.0747:0.0:0.9253:0.0	.	119;119;119;119	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	S	119	ENSP00000265944:G119S;ENSP00000365479:G119S;ENSP00000445909:G119S;ENSP00000365478:G119S	ENSP00000265944:G119S	G	+	1	0	MYO3A	26325476	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.680000	0.84062	1.311000	0.45024	0.484000	0.47621	GGT		0.353	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		11	85	0	0	0	1	0	11	85					A	26285470	G	A	26285470	3	1	343	1	0	0	0	0	1	0	0	0	10076	1232	43	2	365	2	MYO3A	10	26285470	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		26285470	109249277	22	33036											
CABP4	57010	broad.mit.edu	37	chr11	67222946	67222946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaatctggccattggcCgtcagaagccccctgcgggg	13	15	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:67222946C>T	ENST00000325656.5	+	1	129	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	GPR152_ENST00000312457.2_5'Flank|CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	18					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCATTGGCCGTCAGAAGCC	0.642																																						ENST00000325656.5																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(52-54)Cgt>Tgt		calcium binding protein 4							12	15	14					11																	67222946		2177	4252	6429	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67222946C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.52C>T	11.37:g.67222946C>T	ENSP00000324960:p.Arg18Cys					CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	p.R18C	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	129	+			18					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.52C>T	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564160	0.27915	.	.	ENSG00000175544	ENST00000325656	T	0.69306	-0.39	4.31	1.29	0.21616	.	5.414580	0.00520	N	0.000199	T	0.48484	0.1502	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.06405	0.002	T	0.44636	-0.9315	10	0.87932	D	0	-2.9314	6.9456	0.24516	0.0:0.6904:0.0:0.3096	.	18	P57796	CABP4_HUMAN	C	18	ENSP00000324960:R18C	ENSP00000324960:R18C	R	+	1	0	CABP4	66979522	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	-0.068000	0.11561	0.050000	0.15949	0.491000	0.48974	CGT		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			20	15	0	0	0	1	0	20	15					T	67222946	C	T	67222946	3	4	343	1	0	0	0	0	1	0	0	0	2533	652	23	1	54	1	CABP4	11	67222946	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		67222946	67783570	23	33037											
DPPA3	359787	broad.mit.edu	37	chr12	7867804	7867804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaaatctcctccgagacGttgataaagaaccttagtaa	6	10	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:7867804G>A	ENST00000345088.2	+	2	225	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCTCCGAGACGTTGATAAAGA	0.453																																						ENST00000345088.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(106-108)acG>acA		developmental pluripotency associated 3							107	118	114					12																	7867804		2203	4300	6503	SO:0001819	synonymous_variant	359787					cytoplasm|nucleus		g.chr12:7867804G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.108G>A	12.37:g.7867804G>A							p.T36T	NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	2	225	+			36					Q0P5U3|Q6JZS6	Silent	SNP	ENST00000345088.2	37	c.108G>A	CCDS8582.1																																																																																				0.453	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		59	106	0	0	0	1	0	59	106					A	7867804	G	A	7867804	2	1	343	1	0	0	0	0	0	0	0	1	4735	1132	40	1		1	DPPA3	12	7867804	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08		7867804	125984091	24	33038											
FMNL3	91010	broad.mit.edu	37	chr12	50044648	50044648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaataattcttcaaacttaTcaagatccaggtcctggcag	7	9	3	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:50044648T>A	ENST00000293590.5	-	17	2044	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	FMNL3_ENST00000550488.1_Missense_Mutation_p.D604V|FMNL3_ENST00000335154.5_Missense_Mutation_p.D604V|FMNL3_ENST00000352151.5_Missense_Mutation_p.D553V			Q8IVF7	FMNL3_HUMAN	formin-like 3	604	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAAACTTATCAAGATCCAG	0.512																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1810-1812)gAt>gTt		formin-like 3							76	71	73					12																	50044648		1927	4140	6067	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044648T>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1811A>T	12.37:g.50044648T>A	ENSP00000293590:p.Asp604Val					FMNL3_ENST00000550488.1_Missense_Mutation_p.D604V|FMNL3_ENST00000352151.5_Missense_Mutation_p.D553V|FMNL3_ENST00000293590.5_Missense_Mutation_p.D604V	p.D604V	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			17	2044	-			604			FH2.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1811A>T		.	.	.	.	.	.	.	.	.	.	T	21.9	4.217643	0.79352	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.4	5.4	0.78164	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.154328	0.56097	D	0.000030	T	0.75532	0.3862	M	0.64997	1.995	0.80722	D	1	P;D;D	0.76494	0.928;0.999;0.999	P;D;D	0.87578	0.775;0.997;0.998	T	0.73886	-0.3841	10	0.33141	T	0.24	.	14.7049	0.69183	0.0:0.0:0.0:1.0	.	553;604;604	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	V	604;604;553;604	ENSP00000335655:D604V;ENSP00000447479:D604V;ENSP00000344311:D553V;ENSP00000293590:D604V	ENSP00000293590:D604V	D	-	2	0	FMNL3	48330915	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.294000	0.72738	2.175000	0.68902	0.528000	0.53228	GAT		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		14	56	0	0	0	1	0	14	56					A	50044648	T	A	50044648	3	1	343	1	0	0	0	0	1	0	0	0	5953	1435	50	5	1312	5	FMNL3	12	50044648	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	42176844	50044648	83807247	25	33039											
SOAT2	8435	broad.mit.edu	37	chr12	53517583	53517583	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtggaccatgctgTttctaggccagggaatccag	13	9	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:53517583T>A	ENST00000301466.3	+	14	1504	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	482					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)	GACCATGCTGTTTCTAGGCCA	0.577																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(1444-1446)Ttt>Att		sterol O-acyltransferase 2							143	111	122					12																	53517583		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53517583T>A	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.1444T>A	12.37:g.53517583T>A	ENSP00000301466:p.Phe482Ile						p.F482I	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			14	1504	+			482					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.1444T>A	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876616	0.72180	.	.	ENSG00000167780	ENST00000301466	T	0.73258	-0.73	4.52	3.33	0.38152	.	0.114307	0.64402	D	0.000017	T	0.49609	0.1567	L	0.28776	0.89	0.53005	D	0.999967	B	0.34103	0.437	B	0.29862	0.108	T	0.32798	-0.9893	10	0.19590	T	0.45	-6.9494	5.1016	0.14762	0.1626:0.0896:0.0:0.7478	.	482	O75908	SOAT2_HUMAN	I	482	ENSP00000301466:F482I	ENSP00000301466:F482I	F	+	1	0	SOAT2	51803850	1.000000	0.71417	0.266000	0.24541	0.788000	0.44548	3.590000	0.53979	0.841000	0.35020	0.459000	0.35465	TTT		0.577	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			23	55	0	0	0	1	0	23	55					A	53517583	T	A	53517583	3	1	343	1	0	0	0	0	1	0	0	0	14911	1725	60	5	1498	5	SOAT2	12	53517583	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	3472935	53517583	80334312	26	33040											
TRHDE	29953	broad.mit.edu	37	chr12	73012760	73012760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttggcatgctgccagccGagctctttatcctctagata	8	13	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:73012760G>A	ENST00000261180.4	+	13	2372	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCCAGCCGAGCTCTTTAT	0.368																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2275-2277)cGa>cAa		thyrotropin-releasing hormone degrading enzyme							52	55	54					12																	73012760		2201	4300	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012760G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2276G>A	12.37:g.73012760G>A	ENSP00000261180:p.Arg759Gln						p.R759Q	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			13	2372	+			759					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2276G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408256	0.62399	.	.	ENSG00000072657	ENST00000261180	T	0.05447	3.44	5.77	5.77	0.91146	.	0.073688	0.56097	D	0.000024	T	0.07773	0.0195	L	0.46157	1.445	0.52501	D	0.999956	B	0.29115	0.233	B	0.21546	0.035	T	0.24261	-1.0165	10	0.30854	T	0.27	.	15.515	0.75815	0.0681:0.0:0.9319:0.0	.	759	Q9UKU6	TRHDE_HUMAN	Q	759	ENSP00000261180:R759Q	ENSP00000261180:R759Q	R	+	2	0	TRHDE	71299027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.234000	0.78134	2.885000	0.99019	0.655000	0.94253	CGA		0.368	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		22	61	0	0	0	1	0	22	61					A	73012760	G	A	73012760	3	1	343	1	0	0	0	0	1	0	0	0	16476	1058	37	1	2326	1	TRHDE	12	73012760	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19495177	73012760	60839135	27	33041											
USP12	219333	broad.mit.edu	37	chr13	27680004	27680004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaggttgactcttataCgcaagaactttttcccgaaa	6	10	1	2	rs142426104		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr13:27680004C>T	ENST00000282344.6	-	3	463	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	69	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GACTCTTATACGCAAGAACTT	0.393																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(205-207)gcG>gcA		ubiquitin specific peptidase 12		C		1,4405	2.1+/-5.4	0,1,2202	74	72	72		207	-10.8	0	13	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP12	NM_182488.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		69/371	27680004	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27680004C>T	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.207G>A	13.37:g.27680004C>T							p.A69A	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	3	463	-		Lung SC(185;0.0161)	69					A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	c.207G>A	CCDS31952.1																																																																																				0.393	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		19	70	0	0	0	1	0	19	70					T	27680004	C	T	27680004	2	4	343	1	0	0	0	0	0	0	0	1	17040	523	19	1		1	USP12	13	27680004	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		27680004	87489874	28	33042											
ACOT4	122970	broad.mit.edu	37	chr14	74062179	74062179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggactgggcattacatcGagcctccttacttccccctg	9	15	0	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr14:74062179G>A	ENST00000326303.4	+	3	1341	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	363					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCATTACATCGAGCCTCCTTA	0.517																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(1087-1089)Gag>Aag		acyl-CoA thioesterase 4							83	76	78					14																	74062179		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74062179G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.1087G>A	14.37:g.74062179G>A	ENSP00000323071:p.Glu363Lys						p.E363K	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	3	1341	+			363					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.1087G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536334	0.96460	.	.	ENSG00000177465	ENST00000326303	T	0.35048	1.33	5.74	5.74	0.90152	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75221	-0.3394	10	0.87932	D	0	-21.9171	19.5177	0.95171	0.0:0.0:1.0:0.0	.	363	Q8N9L9	ACOT4_HUMAN	K	363	ENSP00000323071:E363K	ENSP00000323071:E363K	E	+	1	0	ACOT4	73131932	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	8.894000	0.92506	2.720000	0.93068	0.561000	0.74099	GAG		0.517	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		5	124	0	0	0	1	0	5	124					A	74062179	G	A	74062179	3	1	343	1	0	0	0	0	1	0	0	0	153	1059	37	1	1097	1	ACOT4	14	74062179	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		74062179	33287361	29	33043											
THSD4	79875	broad.mit.edu	37	chr15	71535120	71535120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctcatcccgccattcCaggtcccagggagcatcttc	8	16	2	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr15:71535120C>T	ENST00000355327.3	+	5	731	c.597C>T	c.(595-597)tcC>tcT	p.S199S	THSD4_ENST00000261862.6_Silent_p.S199S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	199	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						CCCGCCATTCCAGGTCCCAGG	0.567																																						ENST00000355327.3																			0				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						c.(595-597)tcC>tcT		thrombospondin, type I, domain containing 4							79	88	85					15																	71535120		2085	4213	6298	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535120C>T	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.597C>T	15.37:g.71535120C>T						THSD4_ENST00000261862.6_Silent_p.S199S	p.S199S			Q6ZMP0	THSD4_HUMAN			5	731	+			199			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.597C>T	CCDS10238.2																																																																																				0.567	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		11	114	0	0	0	1	0	11	114					T	71535120	C	T	71535120	2	4	343	1	0	0	0	0	0	0	0	1	15875	581	21	2		2	THSD4	15	71535120	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		71535120	30996272	30	33044											
WDR81	124997	broad.mit.edu	37	chr17	1639495	1639495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggccagcccacgaggggGacattctgcagatcaaggtg	15	11	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:1639495G>A	ENST00000409644.1	+	9	5488	c.5488G>A	c.(5488-5490)Gac>Aac	p.D1830N	WDR81_ENST00000437219.2_Missense_Mutation_p.D627N|WDR81_ENST00000545662.1_Missense_Mutation_p.D461N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.D779N|WDR81_ENST00000446363.1_Missense_Mutation_p.D469N|WDR81_ENST00000419248.1_Missense_Mutation_p.D603N	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1830					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)		CCACGAGGGGGACATTCTGCA	0.677																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5488-5490)Gac>Aac		WD repeat domain 81							48	50	49					17																	1639495		2203	4298	6501	SO:0001583	missense	124997							g.chr17:1639495G>A	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.5488G>A	17.37:g.1639495G>A	ENSP00000386609:p.Asp1830Asn					WDR81_ENST00000309182.5_Missense_Mutation_p.D779N|WDR81_ENST00000446363.1_Missense_Mutation_p.D469N|WDR81_ENST00000419248.1_Missense_Mutation_p.D603N|WDR81_ENST00000437219.2_Missense_Mutation_p.D627N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.D461N	p.D1830N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	9	5488	+			603					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.5488G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268089	0.95429	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01295	5.04;5.04;5.04;5.04;5.04;5.04	5.67	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.159531	0.38897	U	0.001522	T	0.07188	0.0182	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.977;0.994;0.996	T	0.44892	-0.9298	10	0.26408	T	0.33	.	14.5973	0.68415	0.0701:0.0:0.9299:0.0	.	461;627;779	B7Z6V3;B7Z579;Q562E7	.;.;WDR81_HUMAN	N	627;779;469;603;1830;581;461	ENSP00000391074:D627N;ENSP00000312074:D779N;ENSP00000401560:D469N;ENSP00000407845:D603N;ENSP00000386609:D1830N;ENSP00000442726:D461N	ENSP00000312074:D779N	D	+	1	0	WDR81	1586245	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.571000	0.98176	1.405000	0.46838	0.561000	0.74099	GAC		0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		4	70	0	0	0	1	0	4	70					A	1639495	G	A	1639495	3	1	343	1	0	0	0	0	1	0	0	0	17327	1174	41	2	5584	2	WDR81	17	1639495	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		1639495	79555715	31	33045											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575|rs397516437		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	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	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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)				TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	16	0	0	0	1	0	46	16					T	7577548	C	T	7577548	3	4	343	1	0	0	0	0	1	0	0	0	16378	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	5938053	7577548	73617662	32	33046											
USP43	124739	broad.mit.edu	37	chr17	9631874	9631874	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attctctggaaacagcaaagAcagtcgccgaggcacctctg	10	12	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:9631874A>T	ENST00000285199.7	+	15	3035	c.2939A>T	c.(2938-2940)gAc>gTc	p.D980V	USP43_ENST00000570475.1_Missense_Mutation_p.D975V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	980					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						AACAGCAAAGACAGTCGCCGA	0.572																																						ENST00000570827.2																			0				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						c.(2005-2007)gAc>gTc		ubiquitin specific peptidase 43							44	49	47					17																	9631874		1951	4136	6087	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631874A>T	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.2939A>T	17.37:g.9631874A>T	ENSP00000285199:p.Asp980Val					USP43_ENST00000570475.1_Missense_Mutation_p.D975V|USP43_ENST00000285199.6_Missense_Mutation_p.D980V	p.D669V			Q70EL4	UBP43_HUMAN			15	3080	+			980					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.2006A>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940313	0.34283	.	.	ENSG00000154914	ENST00000285199	T	0.11604	2.76	5.31	2.87	0.33458	.	8.069370	0.00166	N	0.000000	T	0.22003	0.0530	L	0.54323	1.7	0.09310	N	0.999991	P;D;P;D	0.59767	0.949;0.97;0.949;0.986	P;P;P;P	0.53035	0.521;0.646;0.521;0.716	T	0.04840	-1.0923	10	0.56958	D	0.05	-14.7108	5.9907	0.19460	0.7532:0.0:0.2468:0.0	.	975;669;980;492	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	V	980	ENSP00000285199:D980V	ENSP00000285199:D980V	D	+	2	0	USP43	9572599	0.068000	0.21057	0.016000	0.15963	0.011000	0.07611	0.383000	0.20651	0.373000	0.24621	-0.256000	0.11100	GAC		0.572	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		12	31	0	0	0	1	0	12	31					T	9631874	A	T	9631874	3	4	343	1	0	0	0	0	1	0	0	0	17071	275	10	5	2997	5	USP43	17	9631874	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	2054326	9631874	71563336	33	33047											
DBF4B	80174	broad.mit.edu	37	chr17	42828250	42828250	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggacattcctgttaagggcCcactcctcttccctgaagcc	8	16	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:42828250C>G	ENST00000315005.3	+	14	1615	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	493					cell cycle (GO:0007049)|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)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTTAAGGGCCCACTCCTCTT	0.592																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1477-1479)Cca>Gca		DBF4 homolog B (S. cerevisiae)							108	100	103					17																	42828250		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828250C>G	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1477C>G	17.37:g.42828250C>G	ENSP00000323663:p.Pro493Ala					DBF4B_ENST00000393547.2_Intron	p.P493A	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1615	+		Prostate(33;0.0322)	493					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1477C>G	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373267	0.11409	.	.	ENSG00000161692	ENST00000315005	T	0.56103	0.48	2.44	-0.887	0.10587	.	58.480500	0.00357	U	0.000038	T	0.31451	0.0797	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.13818	-1.0495	9	.	.	.	.	7.1928	0.25834	0.0:0.7426:0.0:0.2574	.	493	Q8NFT6	DBF4B_HUMAN	A	493	ENSP00000323663:P493A	.	P	+	1	0	DBF4B	40183776	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.091000	0.03369	-0.147000	0.11254	-0.752000	0.03492	CCA		0.592	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		49	103	0	0	0	1	0	49	103					G	42828250	C	G	42828250	3	3	343	1	0	0	0	0	1	0	0	0	4249	623	22	4	1576	4	DBF4B	17	42828250	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	33196376	42828250	38366960	34	33048											
ZNF334	55713	broad.mit.edu	37	chr20	45131229	45131229	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgatgtacaatgagggtaGatctcttagaaaaggttttc	10	5	2	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:45131229G>A	ENST00000347606.4	-	5	931	c.749C>T	c.(748-750)tCt>tTt	p.S250F	ZNF334_ENST00000593880.1_Missense_Mutation_p.S273F|ZNF334_ENST00000457685.2_Missense_Mutation_p.S212F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGAGGGTAGATCTCTTAGA	0.398																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(634-636)tCt>tTt		zinc finger protein 334							92	91	91					20																	45131229		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131229G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.749C>T	20.37:g.45131229G>A	ENSP00000255129:p.Ser250Phe					ZNF334_ENST00000347606.4_Missense_Mutation_p.S250F|ZNF334_ENST00000593880.1_Missense_Mutation_p.S273F	p.S212F			Q9HCZ1	ZN334_HUMAN			6	1958	-		Myeloproliferative disorder(115;0.0122)	250					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.635C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212073	0.39102	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.35789	1.29;1.29	3.45	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42108	0.1188	M	0.88570	2.965	0.09310	N	1	B;B;B	0.32939	0.391;0.391;0.13	B;B;B	0.28305	0.088;0.088;0.061	T	0.41431	-0.9509	9	0.62326	D	0.03	.	8.7075	0.34363	0.117:0.0:0.883:0.0	.	212;250;273	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	F	212;250	ENSP00000402582:S212F;ENSP00000255129:S250F	ENSP00000255129:S250F	S	-	2	0	ZNF334	44564636	0.000000	0.05858	0.059000	0.19551	0.729000	0.41735	-0.080000	0.11339	0.775000	0.33450	0.591000	0.81541	TCT		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			52	101	0	0	0	1	0	52	101					A	45131229	G	A	45131229	3	1	343	1	0	0	0	0	1	0	0	0	17848	942	33	2	1297	2	ZNF334	20	45131229	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		45131229	17894291	35	33049											
PRIC285	85441	broad.mit.edu	37	chr20	62196772	62196772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcgaaggtctctggcaCgaaagagcagtggcggtacc	14	12	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:62196772C>T	ENST00000467148.1	-	8	3472	c.3403G>A	c.(3403-3405)Gtg>Atg	p.V1135M	HELZ2_ENST00000427522.2_Missense_Mutation_p.V566M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1135					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)										GTCTCTGGCACGAAAGAGCAG	0.701																																						ENST00000467148.1																			0											c.(3403-3405)Gtg>Atg		helicase with zinc finger 2, transcriptional coactivator																																				SO:0001583	missense	85441							g.chr20:62196772C>T	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.3403G>A	20.37:g.62196772C>T	ENSP00000417401:p.Val1135Met					HELZ2_ENST00000427522.2_Missense_Mutation_p.V566M	p.V1135M	NM_001037335.2	NP_001032412.2					8	3472	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3403G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	8.503	0.864705	0.17250	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.22336	1.96;1.96	4.81	-1.53	0.08611	.	0.989482	0.08197	N	0.982975	T	0.23886	0.0578	L	0.42245	1.32	0.09310	N	1	D;D	0.60160	0.979;0.987	B;P	0.49387	0.405;0.609	T	0.35375	-0.9791	10	0.54805	T	0.06	-2.7161	9.7313	0.40363	0.0:0.3023:0.4839:0.2138	.	1135;566	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	566;1135	ENSP00000393257:V566M;ENSP00000417401:V1135M	ENSP00000393257:V566M	V	-	1	0	RP4-697K14.7	61667216	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.539000	0.06113	-0.118000	0.11851	-0.440000	0.05779	GTG		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	22	0	0	0	1	0	4	22					T	62196772	C	T	62196772	3	4	343	1	0	0	0	0	1	0	0	0	12485	536	19	1	4594	1	PRIC285	20	62196772	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	17065543	62196772	828748	36	33050											
MED14	9282	broad.mit.edu	37	chrX	40534573	40534573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcatttacagaccttcttCgagcatcctgattgctgtca	6	13	3	2	rs373976346		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:40534573C>T	ENST00000324817.1	-	22	3039	c.2921G>A	c.(2920-2922)cGa>cAa	p.R974Q	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	974					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)	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)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACCTTCTTCGAGCATCCTG	0.383																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2920-2922)cGa>cAa		mediator complex subunit 14		C	GLN/ARG	0,3835		0,0,1632,571	75	63	67		2921	5	1	X		67	2,6726		0,2,2426,1872	no	missense	MED14	NM_004229.3	43	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	possibly-damaging	974/1455	40534573	2,10561	2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40534573C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2921G>A	X.37:g.40534573C>T	ENSP00000323720:p.Arg974Gln					MED14_ENST00000496531.1_5'UTR	p.R974Q	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			22	3039	-			974					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.2921G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283818	0.80803	0.0	2.97E-4	ENSG00000180182	ENST00000324817	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.55449	0.1921	L	0.37850	1.14	0.80722	D	1	B	0.13145	0.007	B	0.04013	0.001	T	0.54715	-0.8252	9	0.66056	D	0.02	.	17.5412	0.87848	0.0:1.0:0.0:0.0	.	974	O60244	MED14_HUMAN	Q	974	.	ENSP00000323720:R974Q	R	-	2	0	MED14	40419517	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.487000	0.81328	2.069000	0.61940	0.468000	0.43344	CGA		0.383	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		3	31	0	0	0	1	0	3	31					T	40534573	C	T	40534573	3	4	343	1	0	0	0	0	1	0	0	0	9432	884	31	1	1483	1	MED14	23	40534573	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		40534573	114735987	37	33051											
FAM123B	139285	broad.mit.edu	37	chrX	63412957	63412957	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccccctccaaagaaactAggcagagtacagataccctt	7	14	0	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:63412957A>G	ENST00000330258.3	-	2	482	c.210T>C	c.(208-210)ccT>ccC	p.P70P	AMER1_ENST00000374869.3_Silent_p.P70P|AMER1_ENST00000403336.1_Silent_p.P70P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	70					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)									CAAAGAAACTAGGCAGAGTAC	0.542																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(208-210)ccT>ccC		APC membrane recruitment protein 1							146	118	127					X																	63412957		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63412957A>G	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.210T>C	X.37:g.63412957A>G						AMER1_ENST00000403336.1_Silent_p.P70P|AMER1_ENST00000374869.3_Silent_p.P70P	p.P70P	NM_152424.3	NP_689637.3					2	482	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.210T>C	CCDS14377.2																																																																																				0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	72	0	0	0	1	0	13	72					G	63412957	A	G	63412957	2	3	343	1	0	0	0	0	0	0	0	1	5423	407	15	3		3	FAM123B	23	63412957	Silent	SNP	A	TCGA-HW-8321-01A-11D-2395-08	22878384	63412957	91857603	38	33052											
TAS1R3	83756	broad.mit.edu	37	chr1	1267913	1267913	+	Frame_Shift_Del	DEL	C	C	-													ggtgcccagctgcacgagttCccccagtacgtgaagacgca							TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:1267913delC	ENST00000339381.5	+	3	1034	c.1002delC	c.(1000-1002)ttcfs	p.F334fs		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	334					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|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)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		TGCACGAGTTCCCCCAGTACG	0.692																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1000-1002)ttfs		taste receptor, type 1, member 3	Aspartame(DB00168)						36	38	37					1																	1267913		2199	4292	6491	SO:0001589	frameshift_variant	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267913delC	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1002delC	1.37:g.1267913delC	ENSP00000344411:p.Phe334fs						p.F334fs	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	1034	+	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)	334					Q5TA49|Q8NGW9	Frame_Shift_Del	DEL	ENST00000339381.5	37	c.1002delC	CCDS30556.1																																																																																				0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			15	29						15	29	---	---	---	---	-	1267913	C	-	1267913	7	5	344	1	0	1	0	1	0	0	0	0	15561	854	30	0	1012	0	TAS1R3	1	1267913	Frame_Shift_Del	DEL	C	TCGA-HW-8322-01A-11D-2395-08		1267913	247982708	1	33053											
IPO13	9670	broad.mit.edu	37	chr1	44423086	44423086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccccagcacacagaggccCtcctctacggcttccaatcc	6	19	1	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:44423086C>A	ENST00000372343.3	+	7	2067	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	469					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)				CACAGAGGCCCTCCTCTACGG	0.572																																						ENST00000372343.3																			0				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						c.(1405-1407)Ctc>Atc		importin 13							109	99	103					1																	44423086		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44423086C>A	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.1405C>A	1.37:g.44423086C>A	ENSP00000361418:p.Leu469Ile					IPO13_ENST00000492152.1_3'UTR	p.L469I	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			7	2067	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	469					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1405C>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818926	0.50633	.	.	ENSG00000117408	ENST00000372343	T	0.66995	-0.24	5.69	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.53351	0.1791	L	0.47716	1.5	0.80722	D	1	P	0.37663	0.604	B	0.35550	0.205	T	0.49312	-0.8953	10	0.22109	T	0.4	16.3773	7.0228	0.24924	0.0:0.7119:0.0:0.2881	.	469	O94829	IPO13_HUMAN	I	469	ENSP00000361418:L469I	ENSP00000361418:L469I	L	+	1	0	IPO13	44195673	0.942000	0.31987	1.000000	0.80357	0.991000	0.79684	1.613000	0.36900	1.420000	0.47138	0.561000	0.74099	CTC		0.572	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		4	84	1	0	0.150653	1	0.150653	4	84					A	44423086	C	A	44423086	3	1	344	1	0	0	0	0	1	0	0	0	7794	681	24	4	1431	4	IPO13	1	44423086	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	43155173	44423086	204827535	2	33054											
C8B	732	broad.mit.edu	37	chr1	57417781	57417781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgttcaggatgtaatgCggggagcatccacctgcata	12	10	1	0	rs398122867|rs34438223	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:57417781C>T	ENST00000371237.4	-	5	672	c.606G>A	c.(604-606)ccG>ccA	p.P202P	C8B_ENST00000543257.1_Silent_p.P150P|C8B_ENST00000535057.1_Silent_p.P140P	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	202	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)		p.P202P(1)		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						GGATGTAATGCGGGGAGCATC	0.507													T|||	69	0.013778	0.0	0.0029	5008	,	,		19175	0.0		0.008	False		,,,				2504	0.0603					ENST00000543257.1																			1	Substitution - coding silent(1)	p.P202P(1)	endometrium(1)	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						c.(448-450)ccG>ccA		complement component 8, beta polypeptide		T		5,4401	825.8+/-416.5	0,5,2198	192	177	182		606	-11.1	0	1	dbSNP_126	182	48,8552	817.2+/-406.9	1,46,4253	no	coding-synonymous	C8B	NM_000066.2		1,51,6451	TT,TC,CC		0.5581,0.1135,0.4075		202/592	57417781	53,12953	2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57417781C>T	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.606G>A	1.37:g.57417781C>T						C8B_ENST00000371237.4_Silent_p.P202P|C8B_ENST00000535057.1_Silent_p.P140P	p.P150P	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			6	1016	-			202			LDL-receptor class A.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.450G>A	CCDS30730.1																																																																																				0.507	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			5	104	0	0	0	1	0	5	104					T	57417781	C	T	57417781	2	4	344	1	0	0	0	0	0	0	0	1	2417	755	27	1		1	C8B	1	57417781	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08	12994695	57417781	191832840	3	33055											
KCNT2	343450	broad.mit.edu	37	chr1	196250118	196250118	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgcagtgattttcaTctataacacacacaaattat	4	9	4	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:196250118T>C	ENST00000294725.9	-	25	3697	c.2782A>G	c.(2782-2784)Atg>Gtg	p.M928V	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.M854V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Splice_Site_p.M854V|KCNT2_ENST00000367433.5_Splice_Site_p.M904V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	928					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGATTTTCATCTATAACACA	0.348																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e24-1		potassium channel, subfamily T, member 2							72	72	72					1																	196250118		2202	4300	6502	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196250118T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2782-1A>G	1.37:g.196250118T>C						KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.M854_splice|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.M928_splice	p.M904_splice			Q6UVM3	KCNT2_HUMAN			24	2811	-			928					Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.2709_splice	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578464	0.46006	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.75704	-0.96;-0.96;-0.96	5.52	5.52	0.82312	.	0.072539	0.64402	D	0.000017	T	0.77909	0.4201	M	0.83953	2.67	0.80722	D	1	B;B;B;B;B	0.27068	0.104;0.082;0.167;0.082;0.104	B;B;B;B;B	0.35114	0.065;0.059;0.196;0.087;0.065	T	0.73920	-0.3830	10	0.17369	T	0.5	-26.5936	14.9129	0.70773	0.0:0.0:0.0:1.0	.	928;886;904;854;928	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	904;854;928	ENSP00000356403:M904V;ENSP00000356401:M854V;ENSP00000294725:M928V	ENSP00000294725:M928V	M	-	1	0	KCNT2	194516741	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.404000	0.79996	2.222000	0.72286	0.455000	0.32223	ATG		0.348	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Missense_Mutation	9	16	0	0	0	1	0	9	16					C	196250118	T	C	196250118	5	2	344	1	0	0	0	0	0	0	1	0	8092	1449	50	3	641	3	KCNT2	1	196250118	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08	138832337	196250118	53000503	4	33056											
C1orf186	440712	broad.mit.edu	37	chr1	206243208	206243208	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaggcctgcaggaagagGgacaccaccgcgatcactaa	12	12	1	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:206243208G>A	ENST00000331555.5	-	3	692	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	18						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCAGGAAGAGGGACACCACCG	0.527																																						ENST00000331555.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(52-54)tcC>tcT		chromosome 1 open reading frame 186							129	112	118					1																	206243208		2203	4300	6503	SO:0001819	synonymous_variant	440712					integral to membrane		g.chr1:206243208G>A	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.54C>T	1.37:g.206243208G>A							p.S18S	NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		3	692	-			18						Silent	SNP	ENST00000331555.5	37	c.54C>T	CCDS30995.1																																																																																				0.527	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		31	47	0	0	0	1	0	31	47					A	206243208	G	A	206243208	2	1	344	1	0	0	0	0	0	0	0	1	2020	1219	43	2		2	C1orf186	1	206243208	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	9993090	206243208	43007413	5	33057											
MIA3	375056	broad.mit.edu	37	chr1	222805521	222805521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctagagatgcaaccactgCatgaagataatttctcacga	7	11	1	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:222805521C>T	ENST00000344922.5	+	5	3209	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.H1062Y|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1062					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)		GCAACCACTGCATGAAGATAA	0.498																																						ENST00000344922.5																			0				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						c.(3184-3186)Cat>Tat		melanoma inhibitory activity family, member 3							110	106	108					1																	222805521		1998	4157	6155	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222805521C>T		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.3184C>T	1.37:g.222805521C>T	ENSP00000340900:p.His1062Tyr					MIA3_ENST00000344441.6_Missense_Mutation_p.H1062Y|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	p.H1062Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	5	3209	+			1062					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.3184C>T	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.016|0.016	-1.513894|-1.513894	0.00975|0.00975	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.04360	.|3.64;3.64	3.81|3.81	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.04182|0.04182	0.0116|0.0116	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|P;B	.|0.42296	.|0.775;0.367	.|B;B	.|0.37692	.|0.256;0.062	T|T	0.40213|0.40213	-0.9575|-0.9575	5|9	.|0.56958	.|D	.|0.05	.|.	9.4291|9.4291	0.38599|0.38599	0.0:0.7831:0.2169:0.0|0.0:0.7831:0.2169:0.0	.|.	.|1062;1062	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	V|Y	644|1062	.|ENSP00000340900:H1062Y;ENSP00000340587:H1062Y	.|ENSP00000325973:H1062Y	A|H	+|+	2|1	0|0	MIA3|MIA3	220872144|220872144	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.017000|0.017000	0.09413|0.09413	0.419000|0.419000	0.21247|0.21247	1.149000|1.149000	0.42402|0.42402	0.557000|0.557000	0.71058|0.71058	GCA|CAT		0.498	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		16	99	0	0	0	1	0	16	99					T	222805521	C	T	222805521	3	4	344	1	0	0	0	0	1	0	0	0	9565	710	25	2	3202	2	MIA3	1	222805521	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	16562313	222805521	26445100	6	33058											
SPR	6697	broad.mit.edu	37	chr2	73114723	73114723	+	Frame_Shift_Del	DEL	G	G	-													cgccagctggaggccgagctGggcgccgagcggtctggcct							TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:73114723delG	ENST00000234454.5	+	1	235	c.162delG	c.(160-162)ctgfs	p.L54fs	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	54					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						AGGCCGAGCTGGGCGCCGAGC	0.771																																						ENST00000234454.5																			0				lung(4)|ovary(2)	6						c.(160-162)ctfs		sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)							2	2	2					2																	73114723		1403	2985	4388	SO:0001589	frameshift_variant	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73114723delG		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.162delG	2.37:g.73114723delG	ENSP00000234454:p.Leu54fs					SPR_ENST00000498749.1_3'UTR	p.L54fs	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN			1	235	+			54					A8K741|D6W5H2|Q53GI9|Q9UBB1	Frame_Shift_Del	DEL	ENST00000234454.5	37	c.162delG	CCDS1920.1																																																																																				0.771	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			2	4						2	4	---	---	---	---	-	73114723	G	-	73114723	7	5	344	1	0	1	0	1	0	0	0	0	15090	1335	47	0	164	0	SPR	2	73114723	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08		73114723	170084650	7	33059											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	47	0	0	0	1	0	28	47					T	209113112	C	T	209113112	3	4	344	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	135998389	209113112	34086261	8	33060											
NEU2	4759	broad.mit.edu	37	chr2	233898908	233898909	+	Frame_Shift_Ins	INS	-	-	G													cccttgtatgacgcgcagacINSggggaccctcttcctcttct					rs201616110		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:233898908_233898909insG	ENST00000233840.3	+	2	284_285	c.284_285insG	c.(283-288)acggggfs	p.TG95fs		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	95					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	GACGCGCAGACGGGGACCCTCT	0.619																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(283-285)aggfs		sialidase 2 (cytosolic sialidase)																																				SO:0001589	frameshift_variant	4759						exo-alpha-sialidase activity	g.chr2:233898908_233898909insG	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.288dupG	2.37:g.233898912_233898912dupG	ENSP00000233840:p.Thr95fs						p.R95fs	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	284_285	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	95					Q3KNW4|Q6NTB4	Frame_Shift_Ins	INS	ENST00000233840.3	37	c.284_285insG	CCDS2501.1																																																																																				0.619	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		32	157						32	157	---	---	---	---	G	233898909	-	G	233898908	7	5	344	1	0	1	1	0	0	0	0	0	10342	536	19	0	290	0	NEU2	2	233898908	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	24785796	233898908	9300465	9	33061											
ROBO1	6091	broad.mit.edu	37	chr3	78685111	78685111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgatggattgacaaaaCgcccatccttcagatttggg	10	11	1	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:78685111C>T	ENST00000464233.1	-	23	3298	c.3185G>A	c.(3184-3186)cGt>cAt	p.R1062H	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017H|ROBO1_ENST00000436010.2_Missense_Mutation_p.R1023H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					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)	p.R1039H(1)		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)		ATTGACAAAACGCCCATCCTT	0.473																																						ENST00000436010.2																			1	Substitution - Missense(1)	p.R1039H(1)	ovary(1)	breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3067-3069)cGt>cAt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							155	159	157					3																	78685111		2107	4225	6332	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78685111C>T	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.3185G>A	3.37:g.78685111C>T	ENSP00000420321:p.Arg1062His					ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062H	p.R1023H			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	21	4065	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1062					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3068G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437230	0.83885	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.62105	0.08;0.05;0.12	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;P;D;D	0.80764	0.994;0.731;0.926;0.921	T	0.69720	-0.5069	9	.	.	.	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	1026;1062;1017;1023	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	H	1023;1017;1062;1017;1066	ENSP00000406043:R1023H;ENSP00000420321:R1062H;ENSP00000420637:R1017H	.	R	-	2	0	ROBO1	78767801	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.291000	0.78721	2.866000	0.98385	0.650000	0.86243	CGT		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		60	70	0	0	0	1	0	60	70					T	78685111	C	T	78685111	3	4	344	1	0	0	0	0	1	0	0	0	13513	536	19	1	1806	1	ROBO1	3	78685111	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		78685111	119337319	10	33062											
ARL6	84100	broad.mit.edu	37	chr3	97487028	97487028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgtgccttgggctagAtaatagtggcaaaacgacga	12	6	0	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:97487028A>G	ENST00000463745.1	+	2	554	c.77A>G	c.(76-78)gAt>gGt	p.D26G	ARL6_ENST00000394206.1_Missense_Mutation_p.D26G|ARL6_ENST00000335979.2_Missense_Mutation_p.D26G|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	26					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		CTTGGGCTAGATAATAGTGGC	0.338																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(76-78)gAt>gGt		ADP-ribosylation factor-like 6							123	119	120					3																	97487028		2203	4300	6503	SO:0001583	missense	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97487028A>G	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.77A>G	3.37:g.97487028A>G	ENSP00000419619:p.Asp26Gly					ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.D26G|ARL6_ENST00000394206.1_Missense_Mutation_p.D26G	p.D26G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	2	554	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	26					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.77A>G	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753216	0.89753	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.044162	0.85682	D	0.000000	D	0.93749	0.8002	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95969	0.8968	10	0.87932	D	0	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	26	Q9H0F7	ARL6_HUMAN	G	26	ENSP00000419619:D26G;ENSP00000418740:D26G;ENSP00000337722:D26G;ENSP00000377756:D26G	ENSP00000337722:D26G	D	+	2	0	ARL6	98969718	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	8.730000	0.91510	2.191000	0.70037	0.533000	0.62120	GAT		0.338	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		9	47	0	0	0	1	0	9	47					G	97487028	A	G	97487028	3	3	344	1	0	0	0	0	1	0	0	0	941	333	12	3	79	3	ARL6	3	97487028	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	18801917	97487028	100535402	11	33063											
RAD17	5884	broad.mit.edu	37	chr5	68689027	68689027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcggttgccctctcattTatcagaatatgaacgggata	8	10	2	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:68689027T>C	ENST00000509734.1	+	13	1946	c.1268T>C	c.(1267-1269)tTa>tCa	p.L423S	RAD17_ENST00000282891.6_Missense_Mutation_p.L326S|RAD17_ENST00000354312.3_Missense_Mutation_p.L412S|RAD17_ENST00000380774.3_Missense_Mutation_p.L423S|RAD17_ENST00000354868.5_Missense_Mutation_p.L412S|RAD17_ENST00000358030.2_Missense_Mutation_p.L247S|RAD17_ENST00000305138.4_Missense_Mutation_p.L412S|RAD17_ENST00000521422.1_Missense_Mutation_p.L247S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.L412S|RAD17_ENST00000345306.6_Missense_Mutation_p.L412S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	423					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)		CCCTCTCATTTATCAGAATAT	0.313								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1267-1269)tTa>tCa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							96	93	94					5																	68689027		2203	4297	6500	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68689027T>C	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.1268T>C	5.37:g.68689027T>C	ENSP00000426191:p.Leu423Ser					RAD17_ENST00000358030.2_Missense_Mutation_p.L247S|RAD17_ENST00000354312.3_Missense_Mutation_p.L412S|RAD17_ENST00000521422.1_Missense_Mutation_p.L247S|RAD17_ENST00000305138.4_Missense_Mutation_p.L412S|RAD17_ENST00000282891.6_Missense_Mutation_p.L326S|RAD17_ENST00000345306.6_Missense_Mutation_p.L412S|RAD17_ENST00000361732.2_Missense_Mutation_p.L412S|RAD17_ENST00000354868.5_Missense_Mutation_p.L412S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.L423S	p.L423S			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	13	1946	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	423					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1268T>C	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384546	0.82792	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.56103	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;0.48	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.90870	3.155	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.995	D	0.83484	0.0066	10	0.87932	D	0	-26.216	14.4894	0.67639	0.0:0.0:0.0:1.0	.	423;326;412	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	S	412;423;412;247;412;412;412;326;247;423;31	ENSP00000355226:L412S;ENSP00000426191:L423S;ENSP00000346938:L412S;ENSP00000427743:L247S;ENSP00000346271:L412S;ENSP00000311227:L412S;ENSP00000303134:L412S;ENSP00000282891:L326S;ENSP00000350725:L247S;ENSP00000370151:L423S;ENSP00000425005:L31S	ENSP00000282891:L326S	L	+	2	0	RAD17	68724783	1.000000	0.71417	0.867000	0.34043	0.926000	0.56050	6.464000	0.73534	2.059000	0.61396	0.383000	0.25322	TTA		0.313	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		13	20	0	0	0	1	0	13	20					C	68689027	T	C	68689027	3	2	344	1	0	0	0	0	1	0	0	0	12979	1764	61	3	1323	3	RAD17	5	68689027	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		68689027	112226233	12	33064											
KCNN2	3781	broad.mit.edu	37	chr5	113698887	113698887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctcagcgactacgcgCtcatcttcggcatgttcggc	12	14	3	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:113698887C>T	ENST00000512097.3	+	2	1433	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	KCNN2_ENST00000264773.3_Missense_Mutation_p.L139F|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	139					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGACTACGCGCTCATCTTCGG	0.597																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(415-417)Ctc>Ttc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							36	36	36					5																	113698887		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698887C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.415C>T	5.37:g.113698887C>T	ENSP00000427120:p.Leu139Phe					KCNN2_ENST00000264773.3_Missense_Mutation_p.L139F|KCNN2_ENST00000507750.1_3'UTR	p.L139F			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1433	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	139					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.415C>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030982	0.75504	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.99042	-5.36;-5.36	5.44	5.44	0.79542	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	.	18.8802	0.92353	0.0:1.0:0.0:0.0	.	139	Q9H2S1	KCNN2_HUMAN	F	139	ENSP00000427120:L139F;ENSP00000264773:L139F	ENSP00000264773:L139F	L	+	1	0	KCNN2	113726786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.702000	0.54800	2.536000	0.85505	0.655000	0.94253	CTC		0.597	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		17	51	0	0	0	1	0	17	51					T	113698887	C	T	113698887	3	4	344	1	0	0	0	0	1	0	0	0	8079	797	28	2	417	2	KCNN2	5	113698887	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	45009860	113698887	67216373	13	33065											
GPR6	2830	broad.mit.edu	37	chr6	110301179	110301179	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtggtgctgggcactttCggcgccagctggctgccctt	15	13	0	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr6:110301179C>T	ENST00000275169.3	+	1	882	c.864C>T	c.(862-864)ttC>ttT	p.F288F	GPR6_ENST00000414000.2_Silent_p.F303F	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	288					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGGCACTTTCGGCGCCAGCT	0.657																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(907-909)ttC>ttT		G protein-coupled receptor 6							33	34	33					6																	110301179		2203	4299	6502	SO:0001819	synonymous_variant	0					integral to plasma membrane		g.chr6:110301179C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.864C>T	6.37:g.110301179C>T						GPR6_ENST00000275169.3_Silent_p.F288F	p.F303F			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	1148	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	288					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	c.909C>T	CCDS5079.1																																																																																				0.657	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			4	77	0	0	0	1	0	4	77					T	110301179	C	T	110301179	2	4	344	1	0	0	0	0	0	0	0	1	6701	883	31	1		1	GPR6	6	110301179	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08		110301179	60813888	14	33066											
TBRG4	9238	broad.mit.edu	37	chr7	45144244	45144244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggaccgccggctctgaGctgccagcatcaccagcacc	11	18	2	1	rs146485929	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:45144244G>A	ENST00000258770.3	-	4	921	c.800C>T	c.(799-801)gCt>gTt	p.A267V	SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000361278.3_Intron|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000494076.1_Missense_Mutation_p.A267V|SNORA5C_ENST00000364902.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	267					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCGGCTCTGAGCTGCCAGCAT	0.612																																						ENST00000258770.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						c.(799-801)gCt>gTt		transforming growth factor beta regulator 4		G	VAL/ALA,,	0,4406		0,0,2203	59	54	56		800,,	3.9	0.7	7	dbSNP_134	56	3,8597	3.0+/-9.4	0,3,4297	yes	missense,intron,intron	TBRG4	NM_004749.2,NM_030900.2,NM_199122.1	64,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,,	267/632,,	45144244	3,13003	2203	4300	6503	SO:0001583	missense	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45144244G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.800C>T	7.37:g.45144244G>A	ENSP00000258770:p.Ala267Val					TBRG4_ENST00000494076.1_Missense_Mutation_p.A267V|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron	p.A267V	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN			4	921	-			267					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	c.800C>T	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121099	0.37436	0.0	3.49E-4	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.51574	2.91;2.91;1.39;0.7	5.69	3.88	0.44766	.	0.516121	0.20837	N	0.084769	T	0.36026	0.0952	M	0.66939	2.045	0.09310	N	1	B;P	0.35745	0.177;0.518	B;B	0.26614	0.044;0.071	T	0.25779	-1.0122	10	0.27785	T	0.31	.	4.6252	0.12474	0.1754:0.0:0.6486:0.176	.	278;267	B4DU42;Q969Z0	.;TBRG4_HUMAN	V	267;267;232;213	ENSP00000258770:A267V;ENSP00000420597:A267V;ENSP00000418631:A232V;ENSP00000417743:A213V	ENSP00000258770:A267V	A	-	2	0	TBRG4	45110769	0.978000	0.34361	0.708000	0.30435	0.535000	0.34838	2.904000	0.48719	1.394000	0.46624	0.655000	0.94253	GCT		0.612	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		4	68	0	0	0	1	0	4	68					A	45144244	G	A	45144244	3	1	344	1	0	0	0	0	1	0	0	0	15646	971	34	2	1127	2	TBRG4	7	45144244	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		45144244	113994419	15	33067											
SERPINE1	5054	broad.mit.edu	37	chr7	100779018	100779018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagcctctccacgtcgcGcaggcgctgcagaaagtgaa	12	13	1	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:100779018G>A	ENST00000223095.4	+	7	1180	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SERPINE1_ENST00000445463.2_Silent_p.A326A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|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)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCACGTCGCGCAGGCGCTGC	0.587																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1021-1023)gcG>gcA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						88	81	84					7																	100779018		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779018G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1023G>A	7.37:g.100779018G>A						SERPINE1_ENST00000445463.2_Silent_p.A326A	p.A341A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1180	+	Lung NSC(181;0.136)|all_lung(186;0.182)		341					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1023G>A	CCDS5711.1																																																																																				0.587	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		33	95	0	0	0	1	0	33	95					A	100779018	G	A	100779018	2	1	344	1	0	0	0	0	0	0	0	1	14111	1074	38	1		1	SERPINE1	7	100779018	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	55634774	100779018	58359645	16	33068											
NOTCH1	4851	broad.mit.edu	37	chr9	139395301	139395301	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgagcggggtgaagccatcTgcagaggcagagacgggtgc	18	8	1	4			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139395301T>G	ENST00000277541.6	-	31	5714		c.e31-2			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						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)		TGAAGCCATCTGCAGAGGCAG	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.e31-2		notch 1							10	12	11					9																	139395301		1987	4133	6120	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395301T>G	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.5639-2A>C	9.37:g.139395301T>G		HNSCC(8;0.001)						NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5714	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)						Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37		CCDS43905.1	.	.	.	.	.	.	.	.	.	.	t	17.32	3.359465	0.61403	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5941	0.61979	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138515122	1.000000	0.71417	0.998000	0.56505	0.586000	0.36452	7.786000	0.85741	1.870000	0.54199	0.438000	0.28831	.		0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Intron	3	30	0	0	0	1	0	3	30					G	139395301	T	G	139395301	5	3	344	1	0	0	0	0	0	0	1	0	10547	1594	55	5	2046	5	NOTCH1	9	139395301	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08		139395301	1818130	17	33069											
NOTCH1	4851	broad.mit.edu	37	chr9	139399848	139399848	+	Frame_Shift_Del	DEL	G	G	-													ctgtcacagtggccgtcactGaagtacttccagcactgcag							TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139399848delG	ENST00000277541.6	-	25	4575	c.4500delC	c.(4498-4500)ttcfs	p.F1500fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1500					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)		GGCCGTCACTGAAGTACTTCC	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(4498-4500)ttfs		notch 1							26	33	31					9																	139399848		2152	4251	6403	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399848delG	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.4500delC	9.37:g.139399848delG	ENSP00000277541:p.Phe1500fs	HNSCC(8;0.001)					p.F1500fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4575	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1500					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.4500delC	CCDS43905.1																																																																																				0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		18	21						18	21	---	---	---	---	-	139399848	G	-	139399848	7	5	344	1	0	1	0	1	0	0	0	0	10547	1281	45	0	3207	0	NOTCH1	9	139399848	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	4547	139399848	1813583	18	33070											
BRAP	8315	broad.mit.edu	37	chr12	112110475	112110475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacacttacatcttcagatTtgagcacttcagctctttcc	4	13	5	2	rs150096881		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr12:112110475T>C	ENST00000327551.6	-	5	787	c.647A>G	c.(646-648)aAa>aGa	p.K216R	BRAP_ENST00000539060.1_Intron|BRAP_ENST00000419234.4_Missense_Mutation_p.K246R			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATCTTCAGATTTGAGCACTTC	0.363																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(736-738)aAa>aGa		BRCA1 associated protein							95	83	87					12																	112110475		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112110475T>C	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"RING-type (C3HC4) zinc fingers"	1099	protein-coding gene	gene with protein product	"impedes mitogenic signal propagation", "galectin-2-binding protein"	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.647A>G	12.37:g.112110475T>C	ENSP00000330813:p.Lys216Arg					BRAP_ENST00000539060.1_Intron|BRAP_ENST00000327551.6_Missense_Mutation_p.K216R	p.K246R	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			5	930	-			246					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.737A>G		.	.	.	.	.	.	.	.	.	.	T	14.10	2.435454	0.43224	.	.	ENSG00000089234	ENST00000419234;ENST00000327551;ENST00000547043	T;T	0.47177	0.85;0.87	5.49	5.49	0.81192	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	L	0.45228	1.405	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.54721	-0.8251	10	0.24483	T	0.36	-21.8046	15.5776	0.76404	0.0:0.0:0.0:1.0	.	246	Q7Z569	BRAP_HUMAN	R	246;216;28	ENSP00000403524:K246R;ENSP00000330813:K216R	ENSP00000330813:K216R	K	-	2	0	BRAP	110594858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.539000	0.82063	2.094000	0.63399	0.454000	0.30748	AAA		0.363	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			27	46	0	0	0	1	0	27	46					C	112110475	T	C	112110475	3	2	344	1	0	0	0	0	1	0	0	0	1497	1841	64	3	1073	3	BRAP	12	112110475	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		112110475	21741420	19	33071											
REC8	9985	broad.mit.edu	37	chr14	24642224	24642224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcggtgtgatccgcgtctAttctcaacaatgccagtacc	9	12	2	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:24642224A>G	ENST00000311457.3	+	4	841	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	REC8_ENST00000559919.1_Missense_Mutation_p.Y81C			O95072	REC8_HUMAN	REC8 meiotic recombination protein	81					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCCGCGTCTATTCTCAACAA	0.617																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(241-243)tAt>tGt		REC8 meiotic recombination protein							106	112	110					14																	24642224		2008	4170	6178	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642224A>G	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.242A>G	14.37:g.24642224A>G	ENSP00000308699:p.Tyr81Cys					REC8_ENST00000559919.1_Missense_Mutation_p.Y81C	p.Y81C			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	841	+			81					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.242A>G	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780435	0.70222	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.58797	0.31	5.25	4.08	0.47627	Rad21/Rec8-like protein, N-terminal (1);	0.067648	0.64402	D	0.000011	T	0.77890	0.4198	M	0.90309	3.105	0.43084	D	0.994747	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.80341	-0.1423	10	0.87932	D	0	-10.1516	10.0812	0.42391	0.8307:0.1692:0.0:0.0	.	81;81	O95072-2;O95072	.;REC8_HUMAN	C	81	ENSP00000308699:Y81C	ENSP00000308699:Y81C	Y	+	2	0	REC8	23712064	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	4.084000	0.57650	0.795000	0.33922	0.459000	0.35465	TAT		0.617	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		52	78	0	0	0	1	0	52	78					G	24642224	A	G	24642224	3	3	344	1	0	0	0	0	1	0	0	0	13199	449	16	3	252	3	REC8	14	24642224	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		24642224	82707316	20	33072											
EML5	161436	broad.mit.edu	37	chr14	89160703	89160703	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtaattagtttatcAggcacataggggttcatctt	9	8	3	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:89160703A>T	ENST00000380664.5	-	17	2486	c.2487T>A	c.(2485-2487)ccT>ccA	p.P829P	EML5_ENST00000352093.5_Silent_p.P829P|EML5_ENST00000554922.1_Silent_p.P829P			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	829						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						TTAGTTTATCAGGCACATAGG	0.308																																						ENST00000554922.1																			0				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						c.(2485-2487)ccT>ccA		echinoderm microtubule associated protein like 5							92	85	87					14																	89160703		1821	4066	5887	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89160703A>T	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.2487T>A	14.37:g.89160703A>T						EML5_ENST00000380664.5_Silent_p.P829P|EML5_ENST00000352093.5_Silent_p.P829P	p.P829P	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			17	2735	-			829					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2487T>A	CCDS45148.1																																																																																				0.308	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			2	4	0	0	0	1	0	2	4					T	89160703	A	T	89160703	2	4	344	1	0	0	0	0	0	0	0	1	5100	175	7	5		5	EML5	14	89160703	Silent	SNP	A	TCGA-HW-8322-01A-11D-2395-08	64518479	89160703	18188837	21	33073											
ADSSL1	122622	broad.mit.edu	37	chr14	105209429	105209429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcctgctgcagacccGcggccacgagtggggagtga	18	11	0	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:105209429G>A	ENST00000330877.2	+	10	1059	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ADSSL1_ENST00000556623.1_5'Flank|ADSSL1_ENST00000332972.5_Missense_Mutation_p.R368H|ADSSL1_ENST00000555674.1_5'Flank	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CTGCAGACCCGCGGCCACGAG	0.612																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1102-1104)cGc>cAc		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						84	82	82					14																	105209429		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105209429G>A	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.974G>A	14.37:g.105209429G>A	ENSP00000331260:p.Arg325His					ADSSL1_ENST00000330877.2_Missense_Mutation_p.R325H	p.R368H	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	10	1262	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	325						Missense_Mutation	SNP	ENST00000330877.2	37	c.1103G>A	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534681	0.64972	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.45668	0.89;0.89	4.82	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.60682	0.806;0.878	T	0.59161	-0.7506	10	0.45353	T	0.12	-18.8102	12.7275	0.57178	0.081:0.0:0.919:0.0	.	368;325	Q8N142-2;Q8N142	.;PURA1_HUMAN	H	325;368	ENSP00000331260:R325H;ENSP00000333019:R368H	ENSP00000331260:R325H	R	+	2	0	ADSSL1	104280474	1.000000	0.71417	0.048000	0.18961	0.325000	0.28411	9.666000	0.98612	0.992000	0.38840	0.561000	0.74099	CGC		0.612	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			44	66	0	0	0	1	0	44	66					A	105209429	G	A	105209429	3	1	344	1	0	0	0	0	1	0	0	0	348	1087	38	1	1337	1	ADSSL1	14	105209429	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	16048726	105209429	2140111	22	33074											
A2BP1	54715	broad.mit.edu	37	chr16	7629894	7629894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatatccccttcaggttccGggatccggacctcagacaaa	8	14	2	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr16:7629894G>T	ENST00000550418.1	+	6	1374	c.386G>T	c.(385-387)cGg>cTg	p.R129L	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R134L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R172L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R149L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R172L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R164L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R149L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R149L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R129L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R129L	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	129	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCAGGTTCCGGGATCCGGAC	0.542																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(400-402)cGg>cTg		RNA binding protein, fox-1 homolog (C. elegans) 1							96	88	91					16																	7629894		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629894G>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.386G>T	16.37:g.7629894G>T	ENSP00000450031:p.Arg129Leu					RBFOX1_ENST00000547372.1_Missense_Mutation_p.R172L|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R164L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R172L|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R129L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R149L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R149L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R129L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R149L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R129L	p.R134L			Q9NWB1	RFOX1_HUMAN			3	698	+			129			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.401G>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	35	5.564284	0.96527	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.36157	2.36;2.36;2.36;2.36;2.36;1.27;2.36;2.36;2.36;2.36;2.36;2.36	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.45352	1.415	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.976;0.992;0.999;0.995;0.998;0.995;1.0;0.998	D;D;D;D;D;D;D;D	0.85130	0.919;0.969;0.997;0.977;0.99;0.983;0.996;0.983	T	0.56974	-0.7890	10	0.87932	D	0	-7.8681	19.1841	0.93635	0.0:0.0:1.0:0.0	.	149;172;149;149;149;129;129;172	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	L	128;129;129;172;172;164;129;129;149;149;149;149;134	ENSP00000450402:R128L;ENSP00000450031:R129L;ENSP00000447753:R129L;ENSP00000446842:R172L;ENSP00000391269:R172L;ENSP00000448496:R164L;ENSP00000447281:R129L;ENSP00000447717:R129L;ENSP00000402745:R149L;ENSP00000309117:R149L;ENSP00000347855:R149L;ENSP00000344196:R134L	ENSP00000309117:R149L	R	+	2	0	RBFOX1	7569895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.441000	0.97557	2.537000	0.85549	0.655000	0.94253	CGG		0.542	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		21	45	1	0	3.08376e-08	1	3.30403e-08	21	45					T	7629894	G	T	7629894	3	4	344	1	0	0	0	0	1	0	0	0	3	1116	39	4	487	4	A2BP1	16	7629894	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		7629894	82724859	23	33075											
METT10D	79066	broad.mit.edu	37	chr17	2371168	2371168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctgtggcactttcaCcactaggagaaaaaacagga	9	9	3	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:2371168C>T	ENST00000263092.6	-	5	599	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	METTL16_ENST00000538844.1_Intron|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	158							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						GGCACTTTCACCACTAGGAGA	0.398																																						ENST00000263092.5																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(472-474)Gtg>Atg		methyltransferase like 16							86	78	81					17																	2371168		1859	4104	5963	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2371168C>T	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"methyltransferase 10 domain containing"	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.472G>A	17.37:g.2371168C>T	ENSP00000263092:p.Val158Met					METTL16_ENST00000538844.1_Intron|METTL16_ENST00000571669.1_5'UTR	p.V158M	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN			5	599	-			158					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.472G>A	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105114	0.77096	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.19669	2.13	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	L	0.39898	1.24	0.80722	D	1	P;D	0.60575	0.863;0.988	B;P	0.62885	0.403;0.908	T	0.02196	-1.1197	10	0.46703	T	0.11	-6.6255	16.5705	0.84611	0.0:1.0:0.0:0.0	.	158;158	Q86W50-2;Q86W50	.;MET16_HUMAN	M	158	ENSP00000263092:V158M	ENSP00000263092:V158M	V	-	1	0	METTL16	2317918	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.910000	0.69931	2.510000	0.84645	0.491000	0.48974	GTG		0.398	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		12	68	0	0	0	1	0	12	68					T	2371168	C	T	2371168	3	4	344	1	0	0	0	0	1	0	0	0	9490	507	18	2	1240	2	METT10D	17	2371168	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		2371168	78824042	24	33076											
MYH3	4621	broad.mit.edu	37	chr17	10536939	10536939	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagagccagctggatatcaGccttttccagctcaatctgc	9	13	3	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:10536939G>C	ENST00000583535.1	-	33	4703	c.4616C>G	c.(4615-4617)gCt>gGt	p.A1539G	MYH3_ENST00000226209.7_Missense_Mutation_p.A1539G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1539					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						CTGGATATCAGCCTTTTCCAG	0.527																																						ENST00000583535.1																			0				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						c.(4615-4617)gCt>gGt		myosin, heavy chain 3, skeletal muscle, embryonic							203	162	176					17																	10536939		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10536939G>C		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.4616C>G	17.37:g.10536939G>C	ENSP00000464317:p.Ala1539Gly					MYH3_ENST00000226209.7_Missense_Mutation_p.A1539G	p.A1539G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			33	4703	-			1539					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4616C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080735	0.36758	.	.	ENSG00000109063	ENST00000226209	D	0.82893	-1.66	5.52	5.52	0.82312	Myosin tail (1);	.	.	.	.	T	0.77890	0.4198	L	0.36672	1.1	0.22819	N	0.998692	B	0.02656	0.0	B	0.06405	0.002	T	0.66646	-0.5871	9	0.46703	T	0.11	.	15.3135	0.74056	0.0:0.1394:0.8606:0.0	.	1539	P11055	MYH3_HUMAN	G	1539	ENSP00000226209:A1539G	ENSP00000226209:A1539G	A	-	2	0	MYH3	10477664	0.001000	0.12720	1.000000	0.80357	0.925000	0.55904	0.453000	0.21811	2.756000	0.94617	0.563000	0.77884	GCT		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		5	94	0	0	0	1	0	5	94					C	10536939	G	C	10536939	3	2	344	1	0	0	0	0	1	0	0	0	10036	971	34	4	1242	4	MYH3	17	10536939	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	8165771	10536939	70658271	25	33077											
PIP4K2B	8396	broad.mit.edu	37	chr17	36936783	36936783	+	Frame_Shift_Del	DEL	G	G	-													ttgatgacaaagcgccggtcGtaggtggtgaggaaacgcgt							TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:36936783delG	ENST00000269554.3	-	4	909	c.429delC	c.(427-429)tacfs	p.Y143fs	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	143	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCGCCGGTCGTAGGTGGTGA	0.552																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(427-429)tafs		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							105	93	97					17																	36936783		2203	4300	6503	SO:0001589	frameshift_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36936783delG	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.429delC	17.37:g.36936783delG	ENSP00000269554:p.Tyr143fs					PIP4K2B_ENST00000311500.6_5'UTR	p.Y143fs	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			4	909	-			143			PIPK.		Q5U0E8|Q8TBP2	Frame_Shift_Del	DEL	ENST00000269554.3	37	c.429delC	CCDS11329.1																																																																																				0.552	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		10	166						10	166	---	---	---	---	-	36936783	G	-	36936783	7	5	344	1	0	1	0	1	0	0	0	0	11937	1140	40	0	849	0	PIP4K2B	17	36936783	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	26399844	36936783	44258427	26	33078											
SMARCA4	6597	broad.mit.edu	37	chr19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaggaccgagcccaccGcatcgggcagcagaacgagg	15	14	0	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:11143994G>A	ENST00000429416.3	+	27	3856	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				CGAGCCCACCGCATCGGGCAG	0.612			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(3574-3576)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							63	62	62					19																	11143994		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143994G>A	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.3575G>A	19.37:g.11143994G>A	ENSP00000395654:p.Arg1192His					SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H	p.R1192H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3859	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1192			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3575G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769759	0.90020	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99863	4.86	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	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	-34.1151	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1192;1192;1192;1192;1192;412;1192	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1192;1192;1256;1192;1192;1192;1192;1192	ENSP00000395654:R1192H;ENSP00000350720:R1192H;ENSP00000343896:R1192H;ENSP00000445036:R1192H;ENSP00000392837:R1192H;ENSP00000397783:R1192H;ENSP00000414727:R1192H	ENSP00000343896:R1192H	R	+	2	0	SMARCA4	11004994	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		33	70	0	0	0	1	0	33	70					A	11143994	G	A	11143994	3	1	344	1	0	0	0	0	1	0	0	0	14770	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		11143994	47984989	27	33079											
GIPC1	10755	broad.mit.edu	37	chr19	14591417	14591417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcaccttgatgaaggcGtagccagccccgttgtccgt	12	14	0	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:14591417G>A	ENST00000393033.4	-	5	731	c.462C>T	c.(460-462)taC>taT	p.Y154Y	GIPC1_ENST00000393029.3_Silent_p.Y57Y|GIPC1_ENST00000345425.2_Silent_p.Y154Y|GIPC1_ENST00000393028.1_Silent_p.Y57Y|GIPC1_ENST00000591349.1_Silent_p.Y57Y|GIPC1_ENST00000586027.1_Silent_p.Y154Y	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGATGAAGGCGTAGCCAGCCC	0.657											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(460-462)taC>taT		GIPC PDZ domain containing family, member 1							104	93	97					19																	14591417		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591417G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.462C>T	19.37:g.14591417G>A			OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_ENST00000345425.2_Silent_p.Y154Y|GIPC1_ENST00000393028.1_Silent_p.Y57Y|GIPC1_ENST00000586027.1_Silent_p.Y154Y|GIPC1_ENST00000393029.3_Silent_p.Y57Y|GIPC1_ENST00000591349.1_Silent_p.Y57Y	p.Y154Y	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			5	731	-			154			PDZ.		A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.462C>T	CCDS12310.1																																																																																				0.657	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			53	60	0	0	0	1	0	53	60					A	14591417	G	A	14591417	2	1	344	1	0	0	0	0	0	0	0	1	6392	1140	40	1		1	GIPC1	19	14591417	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	3447423	14591417	44537566	28	33080											
TFPT	29844	broad.mit.edu	37	chr19	54611508	54611508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggaggctcattctccGcattgcctggggtgggggca	15	11	3	0	rs201891249		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:54611508G>A	ENST00000391759.1	-	5	872	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TFPT_ENST00000391757.1_Missense_Mutation_p.R144W|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Missense_Mutation_p.A147V	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	156					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCATTCTCCGCATTGCCTGG	0.677			T	TCF3	pre-B ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		14953	0.001		0.0	False		,,,				2504	0.0					ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(466-468)gCg>gTg		TCF3 (E2A) fusion partner (in childhood Leukemia)		G	VAL/ALA	1,4401		0,1,2200	20	21	21		467	4	0.1	19		21	0,8598		0,0,4299	no	missense	TFPT	NM_013342.3	64	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	156/254	54611508	1,12999	2201	4299	6500	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54611508G>A	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.467C>T	19.37:g.54611508G>A	ENSP00000375639:p.Ala156Val					TFPT_ENST00000391758.1_Missense_Mutation_p.A147V|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_Missense_Mutation_p.R144W	p.A156V	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			5	872	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		156						Missense_Mutation	SNP	ENST00000391759.1	37	c.467C>T	CCDS12878.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	11.75|11.75	1.730432|1.730432	0.30684|0.30684	2.27E-4|2.27E-4	0.0|0.0	ENSG00000105619|ENSG00000105619	ENST00000391759;ENST00000391758|ENST00000391757	.|.	.|.	.|.	5.04|5.04	3.98|3.98	0.46160|0.46160	.|.	0.536722|.	0.19144|.	N|.	0.121602|.	T|T	0.43033|0.43033	0.1229|0.1229	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P|.	0.39920|.	0.695|.	B|.	0.30495|.	0.116|.	T|T	0.37384|0.37384	-0.9708|-0.9708	9|6	0.21540|0.66056	T|D	0.41|0.02	-2.9054|-2.9054	13.0878|13.0878	0.59151|0.59151	0.0807:0.0:0.9193:0.0|0.0807:0.0:0.9193:0.0	.|.	156|.	P0C1Z6|.	TFPT_HUMAN|.	V|W	156;147|144	.|.	ENSP00000375638:A147V|ENSP00000375637:R144W	A|R	-|-	2|1	0|2	TFPT|TFPT	59303320|59303320	0.010000|0.010000	0.17322|0.17322	0.060000|0.060000	0.19600|0.19600	0.271000|0.271000	0.26615|0.26615	1.285000|1.285000	0.33261|0.33261	1.234000|1.234000	0.43709|0.43709	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.677	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		10	9	0	0	0	1	0	10	9					A	54611508	G	A	54611508	3	1	344	1	0	0	0	0	1	0	0	0	15807	1087	38	1	302	1	TFPT	19	54611508	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	40020091	54611508	4517475	29	33081											
HUNK	30811	broad.mit.edu	37	chr21	33371363	33371363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgggcatcggacagAtgttaaggaagcgccatcag	13	8	1	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:33371363A>C	ENST00000270112.2	+	11	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	671					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(2011-2013)Atg>Ctg		hormonally up-regulated Neu-associated kinase							54	60	58					21																	33371363		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371363A>C	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2011A>C	21.37:g.33371363A>C	ENSP00000270112:p.Met671Leu						p.M671L	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			11	2371	+			671						Missense_Mutation	SNP	ENST00000270112.2	37	c.2011A>C	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935668	0.52972	.	.	ENSG00000142149	ENST00000270112	T	0.68181	-0.31	4.21	4.21	0.49690	.	0.165227	0.51477	D	0.000092	T	0.64148	0.2572	L	0.29908	0.895	0.45354	D	0.998345	P	0.40970	0.734	P	0.50825	0.651	T	0.60727	-0.7206	10	0.25751	T	0.34	-32.4647	13.4793	0.61326	1.0:0.0:0.0:0.0	.	671	P57058	HUNK_HUMAN	L	671	ENSP00000270112:M671L	ENSP00000270112:M671L	M	+	1	0	HUNK	32293234	1.000000	0.71417	0.997000	0.53966	0.204000	0.24138	5.843000	0.69424	1.767000	0.52121	0.482000	0.46254	ATG		0.617	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		5	122	0	0	0	1	0	5	122					C	33371363	A	C	33371363	3	2	344	1	0	0	0	0	1	0	0	0	7458	333	12	5	2053	5	HUNK	21	33371363	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		33371363	14758532	30	33082											
TTC3	7267	broad.mit.edu	37	chr21	38568034	38568035	+	Frame_Shift_Ins	INS	-	-	T													ggccaagggcttgtgacttcINStgcaagcgacgtgactggaa							TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:38568034_38568035insT	ENST00000399017.2	+	42	8023_8024	c.5276_5277insT	c.(5275-5280)tctgcafs	p.A1760fs	TTC3_ENST00000479930.1_3'UTR|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Frame_Shift_Ins_p.A1760fs|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.A1760fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1760					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)				CTTGTGACTTCTGCAAGCGACG	0.569																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				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						c.(5275-5277)tgcfs		tetratricopeptide repeat domain 3																																				SO:0001589	frameshift_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38568034_38568035insT	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.5277dupT	21.37:g.38568035_38568035dupT	ENSP00000381981:p.Ala1760fs					TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Frame_Shift_Ins_p.C1759fs|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.C1759fs	p.C1759fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			42	8023_8024	+		Myeloproliferative disorder(46;0.0412)	1759					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Ins	INS	ENST00000399017.2	37	c.5276_5277insT	CCDS13651.1																																																																																				0.569	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			7	344						7	344	---	---	---	---	T	38568035	-	T	38568034	7	5	344	1	0	1	1	0	0	0	0	0	16694	913	32	0	5438	0	TTC3	21	38568034	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	5196671	38568034	9561861	31	33083											
BCR	613	broad.mit.edu	37	chr22	23523557	23523557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgcaggcccggggcagCcgcgtcgggggaacgggacg	20	15	0	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:23523557C>T	ENST00000305877.8	+	1	1161	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BCR_ENST00000398512.5_Missense_Mutation_p.A137V|BCR_ENST00000359540.3_Missense_Mutation_p.A137V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	137	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)	CCCGGGGCAGCCGCGTCGGGG	0.801			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"ABL1,  FGFR1, JAK2 "		"CML, ALL, AML"	BCR/JAK2(6)	0				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						c.(409-411)gCc>gTc		breakpoint cluster region							7	10	9					22																	23523557		1634	3440	5074	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523557C>T		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.410C>T	22.37:g.23523557C>T	ENSP00000303507:p.Ala137Val					BCR_ENST00000398512.5_Missense_Mutation_p.A137V|BCR_ENST00000359540.3_Missense_Mutation_p.A137V	p.A137V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			1	1161	+			137			Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.410C>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879200	0.33162	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.45668	1.69;1.69;0.89	3.38	3.38	0.38709	.	0.367561	0.24580	U	0.037309	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.17098	0.017;0.007	T	0.13899	-1.0492	10	0.14252	T	0.57	.	10.7868	0.46409	0.0:0.8059:0.1941:0.0	.	137;137	P11274-2;P11274	.;BCR_HUMAN	V	137	ENSP00000303507:A137V;ENSP00000352535:A137V;ENSP00000381524:A137V	ENSP00000290956:A137V	A	+	2	0	BCR	21853557	0.071000	0.21146	0.020000	0.16555	0.058000	0.15608	3.965000	0.56788	1.823000	0.53134	0.557000	0.71058	GCC		0.801	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		3	37	0	0	0	1	0	3	37					T	23523557	C	T	23523557	3	4	344	1	0	0	0	0	1	0	0	0	1388	739	26	2	412	2	BCR	22	23523557	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		23523557	27781009	32	33084											
APOL1	8542	broad.mit.edu	37	chr22	36661324	36661324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagagtttcctcggttgAaaagtgagcttgaggataac	12	5	0	5			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:36661324A>G	ENST00000397278.3	+	6	671	c.442A>G	c.(442-444)Aaa>Gaa	p.K148E	APOL1_ENST00000397279.4_Missense_Mutation_p.K148E|APOL1_ENST00000347595.7_Missense_Mutation_p.K27E|APOL1_ENST00000319136.4_Missense_Mutation_p.K164E|APOL1_ENST00000422706.1_Missense_Mutation_p.K148E|APOL1_ENST00000426053.1_Missense_Mutation_p.K130E|APOL1_ENST00000440669.2_3'UTR	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	148					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTCGGTTGAAAAGTGAGCT	0.478																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(490-492)Aaa>Gaa		apolipoprotein L, 1							111	101	105					22																	36661324		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661324A>G	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"Apolipoproteins"	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.442A>G	22.37:g.36661324A>G	ENSP00000380448:p.Lys148Glu					APOL1_ENST00000397278.3_Missense_Mutation_p.K148E|APOL1_ENST00000422706.1_Missense_Mutation_p.K148E|APOL1_ENST00000426053.1_Missense_Mutation_p.K130E|APOL1_ENST00000347595.7_Missense_Mutation_p.K27E|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.K148E	p.K164E	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	757	+			148					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.490A>G	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	a	9.687	1.150754	0.21371	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000347595;ENST00000397279	T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48	3.38	1.21	0.21127	.	0.308968	0.35320	N	0.003294	T	0.06872	0.0175	L	0.60904	1.88	0.09310	N	1	B;B;B	0.31256	0.316;0.186;0.27	B;B;B	0.32022	0.139;0.08;0.086	T	0.25222	-1.0138	10	0.48119	T	0.1	.	5.6062	0.17381	0.7427:0.0:0.2573:0.0	.	130;148;164	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	E	148;148;130;164;148;27;148	ENSP00000380448:K148E;ENSP00000411507:K148E;ENSP00000388477:K130E;ENSP00000317674:K164E;ENSP00000391302:K148E;ENSP00000216178:K27E;ENSP00000380449:K148E	ENSP00000317674:K164E	K	+	1	0	APOL1	34991270	0.023000	0.18921	0.024000	0.17045	0.011000	0.07611	1.460000	0.35244	-0.072000	0.12864	-1.140000	0.01884	AAA		0.478	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		62	93	0	0	0	1	0	62	93					G	36661324	A	G	36661324	3	3	344	1	0	0	0	0	1	0	0	0	805	247	9	3	512	3	APOL1	22	36661324	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	13137767	36661324	14643242	33	33085											
VCX3B	425054	broad.mit.edu	37	chrX	8434346	8434346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggagagccaggtggaGgaaccactgagtcaggagag	17	7	2	3	rs808146		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:8434346G>A	ENST00000381032.1	+	3	970	c.663G>A	c.(661-663)gaG>gaA	p.E221E	VCX3B_ENST00000444481.1_Silent_p.E191E|VCX3B_ENST00000440654.2_Silent_p.E171E|VCX3B_ENST00000381029.4_Silent_p.E189E|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	221	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						GCCAGGTGGAGGAACCACTGA	0.557																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(661-663)gaG>gaA		variable charge, X-linked 3B		G		1,3807		0,0,1,1626,555	90	176	147		663	-1.1	0	X	dbSNP_86	147	8,6662		1,5,1,2418,1821	no	coding-synonymous	VCX3B	NM_001001888.3		1,5,2,4044,2376	AA,AG,A,GG,G		0.1199,0.0263,0.0859		221/247	8434346	9,10469	2182	4246	6428	SO:0001819	synonymous_variant	0					nucleolus		g.chrX:8434346G>A		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.663G>A	X.37:g.8434346G>A						VCX3B_ENST00000440654.2_Silent_p.E171E|VCX3B_ENST00000444481.1_Silent_p.E191E|VCX3B_ENST00000381029.4_Silent_p.E189E|VCX3B_ENST00000453306.1_Intron	p.E221E	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	970	+			0					C9JS46|Q4KN12	Silent	SNP	ENST00000381032.1	37	c.663G>A	CCDS48077.2																																																																																				0.557	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			6	90	0	0	0	1	0	6	90					A	8434346	G	A	8434346	2	1	344	1	0	0	0	0	0	0	0	1	17142	991	35	2		2	VCX3B	23	8434346	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08		8434346	146836214	34	33086											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	5						3	5	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	344	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-HW-8322-01A-11D-2395-08	42804950	51239296	104031264	35	33087											
KIAA0467	23334	broad.mit.edu	37	chr1	43912030	43912033	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													cagggctgttacttctgtgtCaaacagtttgccctggaatg							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:43912030_43912033delCAAA	ENST00000562955.1	+	64	8844_8847	c.8844_8847delCAAA	c.(8842-8847)gtcaaafs	p.VK2948fs	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Frame_Shift_Del_p.VK2106fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3005					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCTGTGTCAAACAGTTTGCCC	0.559																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8842-8847)gtfs		seizure threshold 2 homolog (mouse)																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43912030_43912033delCAAA	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8844_8847delCAAA	1.37:g.43912030_43912033delCAAA	ENSP00000457168:p.Val2948fs					SZT2_ENST00000372442.1_Frame_Shift_Del_p.VK2106fs	p.VK2948fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			64	8844_8847	+			3005					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	c.8844_8847delCAAA	CCDS30694.2																																																																																				0.559	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		36	24						36	24	---	---	---	---	-	43912033	CAAA	-	43912030	7	5	345	1	0	1	0	1	0	0	0	0	8178	813	29	0	6508	0	KIAA0467	1	43912030	Frame_Shift_Del	DEL	CAAA	TCGA-HW-A5KJ-01A-12D-A27K-08		43912030	205338591	1	33088											
LRRC8B	23507	broad.mit.edu	37	chr1	90049110	90049110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcttttacaggatataagCgctaccagtgtgtctattcc	9	9	1	0	rs375681290		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:90049110C>T	ENST00000330947.2	+	5	1261	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	301					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGATATAAGCGCTACCAGTG	0.383																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(901-903)Cgc>Tgc		leucine rich repeat containing 8 family, member B		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	156	158	157		901,901	5.3	1	1		157	0,8600		0,0,4300	no	missense,missense	LRRC8B	NM_001134476.1,NM_015350.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	301/804,301/804	90049110	1,13005	2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049110C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.901C>T	1.37:g.90049110C>T	ENSP00000332674:p.Arg301Cys					LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C	p.R301C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	1261	+		all_lung(203;0.17)	301					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.901C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771462	0.49680	2.27E-4	0.0	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.44482	0.92;0.92;0.92	5.3	5.3	0.74995	.	0.070909	0.53938	D	0.000044	T	0.21267	0.0512	L	0.44542	1.39	0.51012	D	0.999905	D	0.56968	0.978	B	0.38106	0.265	T	0.06499	-1.0823	10	0.49607	T	0.09	.	12.4845	0.55863	0.2788:0.7212:0.0:0.0	.	301	Q6P9F7	LRC8B_HUMAN	C	301	ENSP00000332674:R301C;ENSP00000350933:R301C;ENSP00000400704:R301C	ENSP00000332674:R301C	R	+	1	0	LRRC8B	89821698	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.413000	0.59795	2.629000	0.89072	0.655000	0.94253	CGC		0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		49	30	0	0	0	1	0	49	30					T	90049110	C	T	90049110	3	4	345	1	0	0	0	0	1	0	0	0	9022	768	27	1	903	1	LRRC8B	1	90049110	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	46137080	90049110	159201511	2	33089											
PI4KB	5298	broad.mit.edu	37	chr1	151265460	151265461	+	Frame_Shift_Del	DEL	TT	TT	-													atgctcatgtggaacctctcTttgaggtttcgaatggtgct							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:151265460_151265461delTT	ENST00000368873.1	-	12	2486_2487	c.2318_2319delAA	c.(2317-2319)aaafs	p.K773fs	PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000368875.2_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	773					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			GGAACCTCTCTTTGAGGTTTCG	0.564																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2353-2355)afs		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001589	frameshift_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265460_151265461delTT	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2318_2319delAA	1.37:g.151265460_151265461delTT	ENSP00000357867:p.Lys773fs					PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.K773fs|PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs	p.K785fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	2934_2935	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		773					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Del	DEL	ENST00000368873.1	37	c.2354_2355delAA																																																																																					0.564	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		46	55						46	55	---	---	---	---	-	151265461	TT	-	151265460	7	5	345	1	0	1	0	1	0	0	0	0	11874	1606	56	0	135	0	PI4KB	1	151265460	Frame_Shift_Del	DEL	TT	TCGA-HW-A5KJ-01A-12D-A27K-08	61216350	151265460	97985161	3	33090											
FLG	2312	broad.mit.edu	37	chr1	152281299	152281299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcttgtccatgcccaatGcctgagtgtctggagctgtc	12	11	1	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:152281299G>A	ENST00000368799.1	-	3	6098	c.6063C>T	c.(6061-6063)ggC>ggT	p.G2021G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2021	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)			CATGCCCAATGCCTGAGTGTC	0.547									Ichthyosis																													ENST00000368799.1																			0				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						c.(6061-6063)ggC>ggT		filaggrin							634	523	561					1																	152281299		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281299G>A	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.6063C>T	1.37:g.152281299G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2021G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6098	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2021			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6063C>T	CCDS30860.1																																																																																				0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		25	1025	0	0	0	1	0	25	1025					A	152281299	G	A	152281299	2	1	345	1	0	0	0	0	0	0	0	1	5922	1306	46	2		2	FLG	1	152281299	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	1015839	152281299	96969322	4	33091											
NAV1	89796	broad.mit.edu	37	chr1	201752572	201752577	+	In_Frame_Del	DEL	CCAATC	CCAATC	-													tgtcaaaccaccctcactagCcaatcttgacaaggtcaact					rs150728227		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:201752572_201752577delCCAATC	ENST00000367296.4	+	7	2816_2821	c.2396_2401delCCAATC	c.(2395-2403)gccaatctt>gtt	p.799_801ANL>V	NAV1_ENST00000367295.1_In_Frame_Del_p.408_410ANL>V|NAV1_ENST00000367300.3_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000367302.1_In_Frame_Del_p.812_814ANL>V|NAV1_ENST00000367297.4_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000295624.6_In_Frame_Del_p.799_801ANL>V|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	799					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCACTAGCCAATCTTGACAAGGT	0.456																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(2395-2403)gtt>g		neuron navigator 1																																				SO:0001651	inframe_deletion	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201752572_201752577delCCAATC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2396_2401delCCAATC	1.37:g.201752572_201752577delCCAATC	ENSP00000356265:p.Ala799_Leu801delinsVal					NAV1_ENST00000367302.1_In_Frame_Del_p.ANL812del|NAV1_ENST00000367295.1_In_Frame_Del_p.ANL408del|NAV1_ENST00000367300.3_In_Frame_Del_p.ANL799del|NAV1_ENST00000367297.4_In_Frame_Del_p.ANL799del|NAV1_ENST00000295624.6_In_Frame_Del_p.ANL799del|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA	p.ANL799del	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			7	2816_2821	+			799					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	In_Frame_Del	DEL	ENST00000367296.4	37	c.2396_2401delCCAATC	CCDS1414.2																																																																																				0.456	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		9	508						9	508	---	---	---	---	-	201752577	CCAATC	-	201752572	7	5	345	1	0	1	0	1	0	0	0	0	10183	739	26	0	2479	0	NAV1	1	201752572	In_Frame_Del	DEL	CCAATC	TCGA-HW-A5KJ-01A-12D-A27K-08	49471273	201752572	47498049	5	33092											
OR14A16	284532	broad.mit.edu	37	chr1	247978839	247978840	+	Frame_Shift_Del	DEL	AT	AT	-													aaggcagagatccaagaaagAtagattcttcaagaagaaat					rs561271503		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:247978839_247978840delAT	ENST00000357627.1	-	1	191_192	c.192_193delAT	c.(190-195)ctatctfs	p.S65fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	65						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(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCCAAGAAAGATAGATTCTTCA	0.421																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(190-195)ctctfs		olfactory receptor, family 14, subfamily A, member 16																																				SO:0001589	frameshift_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978839_247978840delAT	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.192_193delAT	1.37:g.247978839_247978840delAT	ENSP00000350248:p.Ser65fs						p.LS64fs	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	191_192	-			64					Q6IF96	Frame_Shift_Del	DEL	ENST00000357627.1	37	c.192_193delAT	CCDS31097.1																																																																																				0.421	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		29	45						29	45	---	---	---	---	-	247978840	AT	-	247978839	7	5	345	1	0	1	0	1	0	0	0	0	10945	333	12	0	740	0	OR14A16	1	247978839	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	46226267	247978839	1271782	6	33093											
BRE	9577	broad.mit.edu	37	chr2	28550157	28550158	+	Frame_Shift_Del	DEL	AG	AG	-													ccaggggatgccaagggagcAgagatgcctgcagcccgtgg							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:28550157_28550158delAG	ENST00000344773.2	+	12	1243_1244	c.1105_1106delAG	c.(1105-1107)agafs	p.R369fs	BRE_ENST00000342045.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron	NM_004899.4	NP_004890.2			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.R369K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGGGAGCAGAGATGCCTGC	0.609																																						ENST00000344773.2																			1	Substitution - Missense(1)	p.R369K(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1105-1107)afs		brain and reproductive organ-expressed (TNFRSF1A modulator)																																				SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28550157_28550158delAG	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000344773.2:c.1105_1106delAG	2.37:g.28550159_28550160delAG	ENSP00000343412:p.Arg369fs					BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000342045.2_Intron	p.R369fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			12	1243_1244	+	Acute lymphoblastic leukemia(172;0.155)		0						Frame_Shift_Del	DEL	ENST00000344773.2	37	c.1105_1106delAG	CCDS1764.1																																																																																				0.609	BRE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215111.1			57	135						57	135	---	---	---	---	-	28550158	AG	-	28550157	7	5	345	1	0	1	0	1	0	0	0	0	1509	180	7	0	1194	0	BRE	2	28550157	Frame_Shift_Del	DEL	AG	TCGA-HW-A5KJ-01A-12D-A27K-08		28550157	214649216	7	33094											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135920344	135920346	+	In_Frame_Del	DEL	AAG	AAG	-													tcgaaaacatttcttcagttAagaagatcataaagcagata							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:135920344_135920346delAAG	ENST00000264158.8	+	21	2456_2458	c.2413_2415delAAG	c.(2413-2415)aagdel	p.K806del	RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	806					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCTTCAGTTAAGAAGATCATAA	0.315																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2413-2415)del		RAB3 GTPase activating protein subunit 1 (catalytic)																																				SO:0001651	inframe_deletion	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135920344_135920346delAAG	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2413_2415delAAG	2.37:g.135920347_135920349delAAG	ENSP00000264158:p.Lys806del					RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del	p.K806del	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	21	2456_2458	+			806					A6H8Z3|C9J837|Q659F5|Q8TBB4	In_Frame_Del	DEL	ENST00000264158.8	37	c.2413_2415delAAG	CCDS33294.1																																																																																				0.315	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		29	75						29	75	---	---	---	---	-	135920346	AAG	-	135920344	7	5	345	1	0	1	0	1	0	0	0	0	12935	363	13	0	2495	0	RAB3GAP1	2	135920344	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08	107370187	135920344	107279029	8	33095											
SCN2A	6326	broad.mit.edu	37	chr2	166245292	166245292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgatgtcccttcctgCgttgtttaacatcggcctcc	8	12	0	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:166245292C>A	ENST00000375437.2	+	27	5266	c.4976C>A	c.(4975-4977)gCg>gAg	p.A1659E	SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					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)	TCCCTTCCTGCGTTGTTTAAC	0.493																																						ENST00000357398.3																			0				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						c.(4975-4977)gCg>gAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						134	128	130					2																	166245292		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245292C>A	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.4976C>A	2.37:g.166245292C>A	ENSP00000364586:p.Ala1659Glu					SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000375437.2_Missense_Mutation_p.A1659E	p.A1659E			Q99250	SCN2A_HUMAN			27	5266	+			1659					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4976C>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767725	0.69878	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99429	0.9798	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98588	1.0653	10	0.87932	D	0	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	1659;1659	Q99250-2;Q99250	.;SCN2A_HUMAN	E	1659	ENSP00000364586:A1659E;ENSP00000349973:A1659E;ENSP00000283256:A1659E;ENSP00000364576:A1659E	ENSP00000283256:A1659E	A	+	2	0	SCN2A	165953538	1.000000	0.71417	0.928000	0.36995	0.922000	0.55478	7.773000	0.85462	2.691000	0.91804	0.552000	0.68991	GCG		0.493	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		49	97	1	0	3.39706e-21	1	3.68014e-21	49	97					A	166245292	C	A	166245292	3	1	345	1	0	0	0	0	1	0	0	0	13916	768	27	4	5174	4	SCN2A	2	166245292	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	30324948	166245292	76954081	9	33096											
SP3	6670	broad.mit.edu	37	chr2	174774916	174774917	+	Frame_Shift_Del	DEL	AT	AT	-													ttttattctggtgtgttttaAtatgtttggcaaggtggtca							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:174774916_174774917delAT	ENST00000310015.6	-	7	2628_2629	c.2098_2099delAT	c.(2098-2100)attfs	p.I700fs	SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	700					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)			GTGTGTTTTAATATGTTTGGCA	0.376																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(2098-2100)tfs		Sp3 transcription factor																																				SO:0001589	frameshift_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174774916_174774917delAT	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.2098_2099delAT	2.37:g.174774918_174774919delAT	ENSP00000310301:p.Ile700fs					SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs	p.I700fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		7	2628_2629	-			700					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Del	DEL	ENST00000310015.6	37	c.2098_2099delAT	CCDS2254.1																																																																																				0.376	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		42	54						42	54	---	---	---	---	-	174774917	AT	-	174774916	7	5	345	1	0	1	0	1	0	0	0	0	14965	101	4	0	250	0	SP3	2	174774916	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	8529624	174774916	68424457	10	33097											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	46	0	0	0	1	0	36	46					T	209113112	C	T	209113112	3	4	345	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	34338196	209113112	34086261	11	33098											
ZBTB20	26137	broad.mit.edu	37	chr3	114058229	114058231	+	In_Frame_Del	DEL	AGG	AGG	-													cttgataaggtaatcctttaAggagaaggagcgccaacaga							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:114058229_114058231delAGG	ENST00000474710.1	-	5	2025_2027	c.1847_1849delCCT	c.(1846-1851)tcctta>tta	p.S616del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.S543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.S543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000462705.1_In_Frame_Del_p.S543del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	616						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAATCCTTTAAGGAGAAGGAGCG	0.507																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1627-1632)tta>t		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058229_114058231delAGG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1847_1849delCCT	3.37:g.114058229_114058231delAGG	ENSP00000419153:p.Ser616del					ZBTB20_ENST00000464560.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.SL543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.SL616del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.SL543del	p.SL543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2449_2451	-			616	S -> F (in Ref. 5; AAH29041).				Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.1628_1630delCCT	CCDS54626.1																																																																																				0.507	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		26	51						26	51	---	---	---	---	-	114058231	AGG	-	114058229	7	5	345	1	0	1	0	1	0	0	0	0	17526	69	3	0	380	0	ZBTB20	3	114058229	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08		114058229	83964201	12	33099											
CCDC96	257236	broad.mit.edu	37	chr4	7044489	7044489	+	Frame_Shift_Del	DEL	T	T	-													tgctcgtccgcggcggtgccTccctgcgaagccgcttgctc							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:7044489delT	ENST00000310085.4	-	1	239	c.177delA	c.(175-177)ggafs	p.G60fs	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	60	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGGCGGTGCCTCCCTGCGAAG	0.736																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(175-177)ggfs		coiled-coil domain containing 96							3	4	3					4																	7044489		1944	3953	5897	SO:0001589	frameshift_variant	257236							g.chr4:7044489delT	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.177delA	4.37:g.7044489delT	ENSP00000309285:p.Gly60fs					RP11-367J11.2_ENST00000500031.1_RNA	p.G60fs	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	239	-			60			Glu-rich.		Q8N2I7	Frame_Shift_Del	DEL	ENST00000310085.4	37	c.177delA	CCDS3395.1																																																																																				0.736	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		2	4						2	4	---	---	---	---	-	7044489	T	-	7044489	7	5	345	1	0	1	0	1	0	0	0	0	2874	1538	54	0	1494	0	CCDC96	4	7044489	Frame_Shift_Del	DEL	T	TCGA-HW-A5KJ-01A-12D-A27K-08		7044489	184109787	13	33100											
GALNTL6	442117	broad.mit.edu	37	chr4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-													catggattgcaaccccgcagAgaagaagattttcatggcca					rs369616934		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:173961139_173961141delAGA	ENST00000506823.1	+	13	2351_2353	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del	GALNTL6_ENST00000508122.1_In_Frame_Del_p.K550del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	567	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)	p.K567delK(1)		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						AACCCCGCAGAGAAGAAGATTTT	0.424																																						ENST00000506823.1																			1	Deletion - In frame(1)	p.K567delK(1)	lung(1)	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						c.(1693-1698)gag>g		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6																																				SO:0001651	inframe_deletion	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173961139_173961141delAGA		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.1694_1696delAGA	4.37:g.173961145_173961147delAGA	ENSP00000423313:p.Lys567del					GALNTL6_ENST00000508122.1_In_Frame_Del_p.EK548del	p.EK565del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			13	2351_2353	+			565			Ricin B-type lectin.		Q2L4S6	In_Frame_Del	DEL	ENST00000506823.1	37	c.1694_1696delAGA	CCDS34104.1																																																																																				0.424	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		25	61						25	61	---	---	---	---	-	173961141	AGA	-	173961139	7	5	345	1	0	1	0	1	0	0	0	0	6225	304	11	0	1740	0	GALNTL6	4	173961139	In_Frame_Del	DEL	AGA	TCGA-HW-A5KJ-01A-12D-A27K-08	166916650	173961139	17193137	14	33101											
SLC36A1	206358	broad.mit.edu	37	chr5	150867793	150867793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgctcccatcttcatcaAttccacctgtgccttcatat	3	15	4	0	rs140057648		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:150867793A>G	ENST00000243389.3	+	11	1632	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S	SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	470					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	ATCTTCATCAATTCCACCTGT	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		21145	0.0		0.001	False		,,,				2504	0.0				Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1408-1410)aAt>aGt		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)	A	SER/ASN	3,4403	6.2+/-15.9	0,3,2200	94	84	87		1409	4.2	0.6	5	dbSNP_134	87	7,8593	5.7+/-21.5	0,7,4293	yes	missense	SLC36A1	NM_078483.2	46	0,10,6493	GG,GA,AA		0.0814,0.0681,0.0769	benign	470/477	150867793	10,12996	2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150867793A>G	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1409A>G	5.37:g.150867793A>G	ENSP00000243389:p.Asn470Ser					SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S	p.N470S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1632	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	470					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1409A>G	CCDS4316.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	15.13	2.740841	0.49151	6.81E-4	8.14E-4	ENSG00000123643	ENST00000520701;ENST00000243389	T;T	0.04317	3.65;3.65	5.37	4.22	0.49857	.	0.450698	0.25616	N	0.029443	T	0.09335	0.0230	M	0.86178	2.8	0.80722	D	1	P	0.35174	0.488	B	0.32022	0.139	T	0.01587	-1.1318	10	0.72032	D	0.01	.	9.5244	0.39156	0.9205:0.0:0.0795:0.0	.	470	Q7Z2H8	S36A1_HUMAN	S	470	ENSP00000428140:N470S;ENSP00000243389:N470S	ENSP00000243389:N470S	N	+	2	0	SLC36A1	150847986	0.994000	0.37717	0.584000	0.28653	0.864000	0.49448	3.821000	0.55700	0.896000	0.36366	0.374000	0.22700	AAT		0.567	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		26	43	0	0	0	1	0	26	43					G	150867793	A	G	150867793	3	3	345	1	0	0	0	0	1	0	0	0	14593	101	4	3	1447	3	SLC36A1	5	150867793	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		150867793	30047467	15	33102											
C5orf40	408263	broad.mit.edu	37	chr5	156770389	156770391	+	In_Frame_Del	DEL	CTC	CTC	-													ctgatcgttcgaggcaccttCtcctcgtggtggaagctgta					rs201079002		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:156770389_156770391delCTC	ENST00000312349.4	-	2	341_343	c.154_156delGAG	c.(154-156)gagdel	p.E52del	CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	52	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGGCACCTTCTCCTCGTGGTGG	0.537																																						ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(154-156)del		fibronectin type III domain containing 9																																				SO:0001651	inframe_deletion	408263					integral to membrane		g.chr5:156770389_156770391delCTC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.154_156delGAG	5.37:g.156770392_156770394delCTC	ENSP00000310594:p.Glu52del					CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron	p.E52del	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	341_343	-			52			Fibronectin type-III.		A8K0Y6	In_Frame_Del	DEL	ENST00000312349.4	37	c.154_156delGAG	CCDS4337.1																																																																																				0.537	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		47	90						47	90	---	---	---	---	-	156770391	CTC	-	156770389	7	5	345	1	0	1	0	1	0	0	0	0	2299	912	32	0	522	0	C5orf40	5	156770389	In_Frame_Del	DEL	CTC	TCGA-HW-A5KJ-01A-12D-A27K-08	5902596	156770389	24144871	16	33103											
SLIT3	6586	broad.mit.edu	37	chr5	168093480	168093480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaacacgcgaggcagccGcactctaagtgtctctccac	10	14	2	0	rs375394267		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:168093480G>A	ENST00000519560.1	-	36	4970	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.C1524C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1517	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGGCAGCCGCACTCTAAGT	0.627																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4549-4551)tgC>tgT		slit homolog 3 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	39	31	34		4551	-4.6	1	5		34	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1517/1524	168093480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093480G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4551C>T	5.37:g.168093480G>A						SLIT3_ENST00000332966.8_Silent_p.C1524C|CTC-558O2.2_ENST00000520041.1_RNA	p.C1517C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4970	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1517			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4551C>T	CCDS4369.1																																																																																				0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		11	22	0	0	0	1	0	11	22					A	168093480	G	A	168093480	2	1	345	1	0	0	0	0	0	0	0	1	14741	1079	38	1		1	SLIT3	5	168093480	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	11323091	168093480	12821780	17	33104											
HLA-DRB5	3127	broad.mit.edu	37	chr6	32486344	32486344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcacctttctgattcTtgaagtagatgaatagcccg	8	11	3	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:32486344T>C	ENST00000374975.3	-	4	814	c.752A>G	c.(751-753)aAg>aGg	p.K251R		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTTCTGATTCTTGAAGTAGAT	0.517													T|||	3011	0.601238	0.5983	0.7075	5008	,	,		3582	0.5655		0.6899	False		,,,				2504	0.4755					ENST00000374975.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						c.(751-753)aAg>aGg		major histocompatibility complex, class II, DR beta 5							22	22	22					6																	32486344		832	1811	2643	SO:0001583	missense	3127				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32486344T>C		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.752A>G	6.37:g.32486344T>C	ENSP00000364114:p.Lys251Arg						p.K251R	NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN			4	814	-			251						Missense_Mutation	SNP	ENST00000374975.3	37	c.752A>G	CCDS4751.1	883	0.4043040293040293	110	0.22357723577235772	172	0.47513812154696133	268	0.46853146853146854	333	0.4393139841688654	.	0.056	-1.235605	0.01505	.	.	ENSG00000198502	ENST00000374975	T	0.00638	6.04	4.29	1.52	0.23074	.	0.271799	0.38778	N	0.001577	T	0.00073	0.0002	N	0.00313	-1.665	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09862	-1.0655	9	0.02654	T	1	.	8.1077	0.30896	0.0:0.7117:0.0:0.2883	.	178;251	Q29973;Q30154	.;DRB5_HUMAN	R	251	ENSP00000364114:K251R	ENSP00000364114:K251R	K	-	2	0	HLA-DRB5	32594322	0.000000	0.05858	0.105000	0.21289	0.853000	0.48598	-0.130000	0.10498	0.566000	0.29273	-0.251000	0.11542	AAG		0.517	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125		3	35	0	0	0	1	0	3	35					C	32486344	T	C	32486344	3	2	345	1	0	0	0	0	1	0	0	0	7209	1609	56	3	60	3	HLA-DRB5	6	32486344	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		32486344	138628723	18	33105											
EPB41L2	2037	broad.mit.edu	37	chr6	131277495	131277497	+	In_Frame_Del	DEL	TCC	TCC	-													gaggtggctgggaaccttttTcctcctctggatcggaagac							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:131277495_131277497delTCC	ENST00000337057.3	-	2	310_312	c.129_131delGGA	c.(127-132)gaggaa>gaa	p.43_44EE>E	EPB41L2_ENST00000445890.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000527659.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000528282.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000529208.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000527411.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000392427.3_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000368128.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530481.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525271.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525193.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530148.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	43					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAACCTTTTTCCTCCTCTGGAT	0.483																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(127-132)gaa>ga		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277495_131277497delTCC	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.129_131delGGA	6.37:g.131277498_131277500delTCC	ENSP00000338481:p.Glu44del					EPB41L2_ENST00000525193.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000528282.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000445890.2_In_Frame_Del_p.EE43del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.EE43del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000392427.3_In_Frame_Del_p.EE43del|EPB41L2_ENST00000525271.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.EE43del	p.EE43del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	310_312	-	Breast(56;0.0639)		43					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.129_131delGGA	CCDS5141.1																																																																																				0.483	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			36	85						36	85	---	---	---	---	-	131277497	TCC	-	131277495	7	5	345	1	0	1	0	1	0	0	0	0	5153	1783	62	0	2958	0	EPB41L2	6	131277495	In_Frame_Del	DEL	TCC	TCGA-HW-A5KJ-01A-12D-A27K-08	98791151	131277495	39837572	19	33106											
PCLO	27445	broad.mit.edu	37	chr7	82784381	82784381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgggggttttgttgAgccaggctgttgaggtgagg	19	3	0	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:82784381A>G	ENST00000333891.9	-	2	1913	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	PCLO_ENST00000423517.2_Missense_Mutation_p.S526P	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						GGTTTTGTTGAGCCAGGCTGT	0.567																																						ENST00000423517.2																			0				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						c.(1576-1578)Tca>Cca		piccolo presynaptic cytomatrix protein							182	189	187					7																	82784381		1989	4171	6160	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784381A>G	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.1576T>C	7.37:g.82784381A>G	ENSP00000334319:p.Ser526Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S526P	p.S526P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1913	-			472			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1576T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	a	0.024	-1.385001	0.01194	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17691	2.26;2.26	4.3	-3.64	0.04515	.	.	.	.	.	T	0.08179	0.0204	N	0.14661	0.345	0.22142	N	0.999337	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	9	0.87932	D	0	.	4.4676	0.11696	0.1434:0.2886:0.4589:0.1091	.	526;526	Q9Y6V0-5;Q9Y6V0-6	.;.	P	472;526;526	ENSP00000334319:S526P;ENSP00000388393:S526P	ENSP00000334319:S526P	S	-	1	0	PCLO	82622317	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.247000	0.18179	-0.369000	0.08028	-0.608000	0.04076	TCA		0.567	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	503	0	0	0	1	0	8	503					G	82784381	A	G	82784381	3	3	345	1	0	0	0	0	1	0	0	0	11583	304	11	3	13965	3	PCLO	7	82784381	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		82784381	76354282	20	33107											
MLL5	55904	broad.mit.edu	37	chr7	104717788	104717789	+	Frame_Shift_Del	DEL	AA	AA	-													aagaaaattcttaaatctgcAaaagatttgcctcctgatgc							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:104717788_104717789delAA	ENST00000311117.3	+	11	1583_1584	c.1038_1039delAA	c.(1036-1041)gcaaaafs	p.K347fs	KMT2E_ENST00000476671.1_Frame_Shift_Del_p.K347fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.K347fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.K347fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	347	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										TTAAATCTGCAAAAGATTTGCC	0.292																																						ENST00000334877.4																			0											c.(1036-1041)gcaafs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104717788_104717789delAA	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.1038_1039delAA	7.37:g.104717790_104717791delAA	ENSP00000312379:p.Lys347fs					KMT2E_ENST00000476671.1_Frame_Shift_Del_p.AK346fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.AK346fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.AK346fs	p.AK346fs							11	1572_1573	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.1038_1039delAA	CCDS34723.1																																																																																				0.292	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			41	38						41	38	---	---	---	---	-	104717789	AA	-	104717788	7	5	345	1	0	1	0	1	0	0	0	0	9624	117	5	0	1072	0	MLL5	7	104717788	Frame_Shift_Del	DEL	AA	TCGA-HW-A5KJ-01A-12D-A27K-08	21933407	104717788	54420875	21	33108											
KLHDC10	23008	broad.mit.edu	37	chr7	129761996	129761996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcaataccagagagtggAcacaactgaaaccaaacaac	6	11	1	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:129761996A>G	ENST00000335420.5	+	5	867	c.733A>G	c.(733-735)Aca>Gca	p.T245A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	245						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAGAGAGTGGACACAACTGAA	0.423																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(733-735)Aca>Gca		kelch domain containing 10							157	123	134					7																	129761996		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129761996A>G		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.733A>G	7.37:g.129761996A>G	ENSP00000334140:p.Thr245Ala						p.T245A	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			5	867	+			245					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.733A>G	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.363249	0.24684	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.10960	2.82;2.82	5.47	4.33	0.51752	Galactose oxidase, beta-propeller (1);	0.142114	0.64402	D	0.000009	T	0.09555	0.0235	L	0.45581	1.43	0.40434	D	0.979978	B;B;B	0.20671	0.019;0.004;0.047	B;B;B	0.19666	0.01;0.006;0.026	T	0.12528	-1.0544	10	0.13470	T	0.59	-12.3102	10.0506	0.42214	0.9214:0.0:0.0786:0.0	.	94;102;245	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	A	245;102	ENSP00000334140:T245A;ENSP00000420034:T102A	ENSP00000334140:T245A	T	+	1	0	KLHDC10	129549232	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.387000	0.66243	2.064000	0.61679	0.533000	0.62120	ACA		0.423	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			62	49	0	0	0	1	0	62	49					G	129761996	A	G	129761996	3	3	345	1	0	0	0	0	1	0	0	0	8355	275	10	3	751	3	KLHDC10	7	129761996	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	25044208	129761996	29376667	22	33109											
NEFL	4747	broad.mit.edu	37	chr8	24813443	24813443	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcgtcggcgcctttgCgcgcttccatcagccggccc	11	20	1	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:24813443C>T	ENST00000221169.5	-	0	1181				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCCTTTGCGCGCTTCCAT	0.647																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							16	17	17					8																	24813443		1914	4100	6014			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813443C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813443C>T										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1181	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.647	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		3	36	0	0	0	1	0	3	36					T	24813443	C	T	24813443	1	4	345	0	1	0	0	0	0	0	0	0	10315	768	27	1		1	NEFL	8	24813443	RNA	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		24813443	121550579	23	33110											
FAM91A1	157769	broad.mit.edu	37	chr8	124789562	124789563	+	Splice_Site	DEL	TG	TG	-													ccaattttactgctgctgacTgtaagtatttaattgtgctg							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:124789562_124789563delTG	ENST00000334705.7	+	4	613	c.367delTG	c.(367-369)tgg>gg	p.W123fs	FAM91A1_ENST00000521166.1_Splice_Site_p.W123fs	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	123										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTGCTGACTGTAAGTATTTA	0.302																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.e4+1		family with sequence similarity 91, member A1																																				SO:0001630	splice_region_variant	157769							g.chr8:124789562_124789563delTG	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.367+1TG>-	8.37:g.124789562_124789563delTG						FAM91A1_ENST00000521166.1_Splice_Site_p.123_splice	p.123_splice	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		4	613	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		123					B6YY23|Q658T5|Q8TE89	Splice_Site	DEL	ENST00000334705.7	37	c.367_splice	CCDS6346.2																																																																																				0.302	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	Frame_Shift_Del	17	53						17	53	---	---	---	---	-	124789563	TG	-	124789562	8	5	345	1	0	1	0	1	0	0	1	0	5651	1594	55	0	381	0	FAM91A1	8	124789562	Splice_Site	DEL	TG	TCGA-HW-A5KJ-01A-12D-A27K-08	99976119	124789562	21574460	24	33111											
RUSC2	9853	broad.mit.edu	37	chr9	35560631	35560633	+	In_Frame_Del	DEL	GAG	GAG	-													ctgaggcctgccctgcctctGaggaggccctgggccgggaa							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35560631_35560633delGAG	ENST00000455600.1	+	10	4563_4565	c.3994_3996delGAG	c.(3994-3996)gagdel	p.E1333del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1333						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCCTCTGAGGAGGCCCTGG	0.7																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3994-3996)del		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560631_35560633delGAG	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3994_3996delGAG	9.37:g.35560634_35560636delGAG	ENSP00000393922:p.Glu1333del						p.E1333del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4563_4565	+			1333					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3994_3996delGAG	CCDS35008.1																																																																																				0.7	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		10	15						10	15	---	---	---	---	-	35560633	GAG	-	35560631	7	5	345	1	0	1	0	1	0	0	0	0	13751	1291	45	0	4028	0	RUSC2	9	35560631	In_Frame_Del	DEL	GAG	TCGA-HW-A5KJ-01A-12D-A27K-08		35560631	105652800	25	33112											
C9orf100	84904	broad.mit.edu	37	chr9	35663036	35663037	+	Frame_Shift_Del	DEL	CT	CT	-													tttctgaccaatagtatggaCtctctgggcagtctcactta							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35663036_35663037delCT	ENST00000378387.3	-	6	696_697	c.579_580delAG	c.(577-582)agagtcfs	p.RV193fs	ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.RV157fs|ARHGEF39_ENST00000490970.1_Intron|ARHGEF39_ENST00000343259.3_Intron	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	193	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										ATAGTATGGACTCTCTGGGCAG	0.53																																						ENST00000378387.3																			0											c.(577-582)agtcfs		Rho guanine nucleotide exchange factor (GEF) 39																																				SO:0001589	frameshift_variant	84904							g.chr9:35663036_35663037delCT	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.579_580delAG	9.37:g.35663040_35663041delCT	ENSP00000367638:p.Arg193fs					ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.RV157fs|ARHGEF39_ENST00000490970.1_Intron	p.RV193fs	NM_032818.2	NP_116207.2					6	696_697	-								Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	c.579_580delAG	CCDS6584.2																																																																																				0.53	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		51	71						51	71	---	---	---	---	-	35663037	CT	-	35663036	7	5	345	1	0	1	0	1	0	0	0	0	2444	565	20	0	443	0	C9orf100	9	35663036	Frame_Shift_Del	DEL	CT	TCGA-HW-A5KJ-01A-12D-A27K-08	102405	35663036	105550395	26	33113											
NOTCH1	4851	broad.mit.edu	37	chr9	139397632	139397635	+	Splice_Site	DEL	ACTC	ACTC	-													cccgggatggggccacacttActctgcacggcctcgatctt							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139397632_139397635delACTC	ENST00000277541.6	-	27	5241_5243	c.5166_5168delGAGT	c.(5164-5169)cagagt>cat	p.QS1722fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1722					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)	p.?(2)		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)		GGCCACACTTACTCTGCACGGCCT	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		2	Unknown(2)	p.?(2)	upper_aerodigestive_tract(2)	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						c.e27+1		notch 1																																				SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397632_139397635delACTC	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.5167+1GAGT>-	9.37:g.139397632_139397635delACTC		HNSCC(8;0.001)					p.H1722_splice	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5241_5243	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1722					Q59ED8|Q5SXM3	Splice_Site	DEL	ENST00000277541.6	37	c.5167_splice	CCDS43905.1																																																																																				0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Frame_Shift_Del	19	73						19	73	---	---	---	---	-	139397635	ACTC	-	139397632	8	5	345	1	0	1	0	1	0	0	1	0	10547	405	14	0	2530	0	NOTCH1	9	139397632	Splice_Site	DEL	ACTC	TCGA-HW-A5KJ-01A-12D-A27K-08	103734596	139397632	1815799	27	33114											
NOTCH1	4851	broad.mit.edu	37	chr9	139413073	139413075	+	In_Frame_Del	DEL	AGG	AGG	-													atggggacactcgcagtagaAggaggccacacggtcatggc							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139413073_139413075delAGG	ENST00000277541.6	-	6	1142_1144	c.1067_1069delCCT	c.(1066-1071)tccttc>ttc	p.S356del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	356	EGF-like 9; 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)	p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCAGTAGAAGGAGGCCACACG	0.65			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		1	Deletion - Frameshift(1)	p.S356del(1)	central_nervous_system(1)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1066-1071)ttc>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413073_139413075delAGG	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.1067_1069delCCT	9.37:g.139413076_139413078delAGG	ENSP00000277541:p.Ser356del	HNSCC(8;0.001)					p.SF356del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1142_1144	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	356			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1067_1069delCCT	CCDS43905.1																																																																																				0.65	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		24	25						24	25	---	---	---	---	-	139413075	AGG	-	139413073	7	5	345	1	0	1	0	1	0	0	0	0	10547	72	3	0	6714	0	NOTCH1	9	139413073	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	15441	139413073	1800358	28	33115											
MYST4	23522	broad.mit.edu	37	chr10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													catcagcctgggaagaaaagAcaaacagaggaagaggaagg							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					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)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	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.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		23	59						23	59	---	---	---	---	-	76784949	ACAA	-	76784946	7	5	345	1	0	1	0	1	0	0	0	0	10105	272	10	0	3661	0	MYST4	10	76784946	Frame_Shift_Del	DEL	ACAA	TCGA-HW-A5KJ-01A-12D-A27K-08		76784946	58749801	29	33116											
SLIT1	6585	broad.mit.edu	37	chr10	98797514	98797514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcgtgaactggttcccGtccaaatagctgcagagaga	11	11	0	3	rs141130521	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:98797514G>A	ENST00000266058.4	-	22	2552	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	SLIT1_ENST00000371070.4_Silent_p.D769D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	769					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTGGTTCCCGTCCAAATAGC	0.597											OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(2305-2307)gaC>gaT		slit homolog 1 (Drosophila)		G		1,4405	2.1+/-5.4	0,1,2202	79	64	69		2307	-8.7	0.7	10	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT1	NM_003061.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		769/1535	98797514	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98797514G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2307C>T	10.37:g.98797514G>A			OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1338	SLIT1_ENST00000371070.4_Silent_p.D769D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.D769D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	22	2552	-		Colorectal(252;0.162)	769					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.2307C>T	CCDS7453.1																																																																																				0.597	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		20	26	0	0	0	1	0	20	26					A	98797514	G	A	98797514	2	1	345	1	0	0	0	0	0	0	0	1	14739	1136	40	1		1	SLIT1	10	98797514	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	22012568	98797514	36737233	30	33117											
MS4A12	54860	broad.mit.edu	37	chr11	60268575	60268575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaattgttttgtgtttaAtatccttctcttttagagaa	7	4	1	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:60268575A>G	ENST00000016913.4	+	3	391	c.334A>G	c.(334-336)Ata>Gta	p.I112V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	112						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTGTGTTTAATATCCTTCTC	0.373																																						ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(334-336)Ata>Gta		membrane-spanning 4-domains, subfamily A, member 12							258	250	253					11																	60268575		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60268575A>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.334A>G	11.37:g.60268575A>G	ENSP00000016913:p.Ile112Val					MS4A12_ENST00000537076.1_Intron	p.I112V	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN			3	391	+			112					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.334A>G	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	A	9.857	1.195168	0.22037	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	T;T	0.42513	4.46;0.97	4.84	-3.54	0.04653	.	3.591800	0.00682	N	0.000698	T	0.17746	0.0426	N	0.05554	-0.025	0.09310	N	1	B	0.19073	0.033	B	0.20384	0.029	T	0.24977	-1.0145	10	0.02654	T	1	.	3.7068	0.08404	0.1779:0.5543:0.094:0.1738	.	112	Q9NXJ0	M4A12_HUMAN	V	112	ENSP00000016913:I112V;ENSP00000434783:I112V	ENSP00000016913:I112V	I	+	1	0	MS4A12	60025151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.605000	0.02074	-0.234000	0.09782	-0.648000	0.03929	ATA		0.373	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			9	165	0	0	0	1	0	9	165					G	60268575	A	G	60268575	3	3	345	1	0	0	0	0	1	0	0	0	9856	101	4	3	340	3	MS4A12	11	60268575	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		60268575	74737941	31	33118											
CCDC88B	283234	broad.mit.edu	37	chr11	64111866	64111866	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaattcaggccccgcAgttgctgggaggagagacag	14	10	1	1	rs142814776		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:64111866A>C	ENST00000356786.5	+	14	1897	c.1853A>C	c.(1852-1854)cAg>cCg	p.Q618P	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	618						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						CAGGCCCCGCAGTTGCTGGGA	0.647																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1852-1854)cAg>cCg		coiled-coil domain containing 88B		A	PRO/GLN	0,4402		0,0,2201	30	33	32		1853	1	0	11	dbSNP_134	32	1,8593	1.2+/-3.3	0,1,4296	no	missense	CCDC88B	NM_032251.5	76	0,1,6497	CC,CA,AA		0.0116,0.0,0.0077	benign	618/1477	64111866	1,12995	2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111866A>C	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.1853A>C	11.37:g.64111866A>C	ENSP00000349238:p.Gln618Pro					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.Q618P	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1897	+			618					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1853A>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	a	11.19	1.565817	0.27915	0.0	1.16E-4	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23950	1.88	3.72	1.0	0.19881	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.26975	0.165;0.005;0.165	B;B;B	0.26416	0.069;0.006;0.069	T	0.24440	-1.0160	9	0.52906	T	0.07	.	3.4117	0.07361	0.5471:0.1358:0.0:0.3171	.	618;267;618	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	P	618	ENSP00000349238:Q618P	ENSP00000349238:Q618P	Q	+	2	0	CCDC88B	63868442	0.000000	0.05858	0.001000	0.08648	0.195000	0.23768	0.074000	0.14662	0.546000	0.28920	0.249000	0.18162	CAG		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		16	42	0	0	0	1	0	16	42					C	64111866	A	C	64111866	3	2	345	1	0	0	0	0	1	0	0	0	2864	188	7	5	1907	5	CCDC88B	11	64111866	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	3843291	64111866	70894650	32	33119											
RCE1	9986	broad.mit.edu	37	chr11	66610961	66610961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgggctgcgactgcTgtcggtgtcgcggccggagc	20	11	0	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:66610961T>C	ENST00000309657.3	+	1	79	c.35T>C	c.(34-36)cTg>cCg	p.L12P	RCE1_ENST00000524506.1_Missense_Mutation_p.L12P|RCE1_ENST00000525356.1_5'Flank|C11orf80_ENST00000360962.4_3'UTR	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	12					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCGACTGCTGTCGGTGTCG	0.756																																						ENST00000309657.3																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(34-36)cTg>cCg		Ras converting CAAX endopeptidase 1							2	2	2					11																	66610961		1058	2236	3294	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66610961T>C	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.35T>C	11.37:g.66610961T>C	ENSP00000309163:p.Leu12Pro					RCE1_ENST00000524506.1_Missense_Mutation_p.L12P|C11orf80_ENST00000360962.4_3'UTR	p.L12P	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN			1	79	+			12					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.35T>C	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122914	0.77436	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	4.51	4.51	0.55191	.	0.322752	0.22156	N	0.063843	T	0.42562	0.1208	L	0.34521	1.04	0.80722	D	1	P	0.38565	0.637	B	0.38655	0.278	T	0.47275	-0.9130	9	0.87932	D	0	-6.446	10.5139	0.44879	0.0:0.0:0.0:1.0	.	12	Q9Y256	FACE2_HUMAN	P	12	.	ENSP00000309163:L12P	L	+	2	0	RCE1	66367537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.829000	0.39121	1.798000	0.52647	0.459000	0.35465	CTG		0.756	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133		3	1	0	0	0	1	0	3	1					C	66610961	T	C	66610961	3	2	345	1	0	0	0	0	1	0	0	0	13176	1580	55	3	37	3	RCE1	11	66610961	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	2499095	66610961	68395555	33	33120											
FAM181B	220382	broad.mit.edu	37	chr11	82444076	82444078	+	In_Frame_Del	DEL	GAA	GAA	-													cctgcccgggacggctccgtGaagaaggacggaggcagatt							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82444076_82444078delGAA	ENST00000329203.3	-	1	828_830	c.694_696delTTC	c.(694-696)ttcdel	p.F232del		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	232	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						ACGGCTCCGTGAAGAAGGACGGA	0.754																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(694-696)del		family with sequence similarity 181, member B																																				SO:0001651	inframe_deletion	220382							g.chr11:82444076_82444078delGAA	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.694_696delTTC	11.37:g.82444079_82444081delGAA	ENSP00000365295:p.Phe232del						p.F232del	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	828_830	-			232			Gly-rich.		B2RWP1	In_Frame_Del	DEL	ENST00000329203.3	37	c.694_696delTTC	CCDS31648.1																																																																																				0.754	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		8	10						8	10	---	---	---	---	-	82444078	GAA	-	82444076	7	5	345	1	0	1	0	1	0	0	0	0	5509	1281	45	0	588	0	FAM181B	11	82444076	In_Frame_Del	DEL	GAA	TCGA-HW-A5KJ-01A-12D-A27K-08	15833115	82444076	52562440	34	33121											
C11orf82	220042	broad.mit.edu	37	chr11	82643883	82643883	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttcaactgtaaaggAaatctaagtcctagtgttga	7	7	2	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82643883A>T	ENST00000533655.1	+	6	1715	c.1503A>T	c.(1501-1503)ggA>ggT	p.G501G	C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G501G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		501					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						ACTGTAAAGGAAATCTAAGTC	0.368																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(1501-1503)ggA>ggT		chromosome 11 open reading frame 82							31	31	31					11																	82643883		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643883A>T																												ENST00000533655.1:c.1503A>T	11.37:g.82643883A>T						C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G501G|C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000525361.1_Intron	p.G501G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	1715	+			501					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.1503A>T	CCDS8263.1																																																																																				0.368	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			17	23	0	0	0	1	0	17	23					T	82643883	A	T	82643883	2	4	345	1	0	0	0	0	0	0	0	1	1665	233	9	5		5	C11orf82	11	82643883	Silent	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	199807	82643883	52362633	35	33122											
KDM4DL	390245	broad.mit.edu	37	chr11	94759050	94759050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaaaaatatcagactcCgccacaccagaattttgcag	6	11	1	2	rs182574403		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:94759050C>T	ENST00000450979.2	+	1	629	c.329C>T	c.(328-330)cCg>cTg	p.P110L		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						TATCAGACTCCGCCACACCAG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20531	0.0		0.001	False		,,,				2504	0.0					ENST00000450979.2																			0				breast(1)|endometrium(7)|kidney(1)|lung(3)	12						c.(328-330)cCg>cTg		lysine (K)-specific demethylase 4E							10	9	9					11																	94759050		690	1589	2279	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759050C>T	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.329C>T	11.37:g.94759050C>T	ENSP00000397239:p.Pro110Leu						p.P110L	NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN			1	629	+			110						Missense_Mutation	SNP	ENST00000450979.2	37	c.329C>T	CCDS44713.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	13.15	2.151332	0.38021	.	.	ENSG00000235268	ENST00000450979	T	0.55234	0.53	2.72	2.72	0.32119	.	.	.	.	.	T	0.75332	0.3835	M	0.91459	3.21	0.45634	D	0.998565	D	0.89917	1.0	D	0.91635	0.999	T	0.80473	-0.1367	9	0.87932	D	0	-14.8323	11.1903	0.48681	0.0:1.0:0.0:0.0	.	110	B2RXH2	KD4DL_HUMAN	L	110	ENSP00000397239:P110L	ENSP00000397239:P110L	P	+	2	0	KDM4DL	94398698	0.980000	0.34600	0.036000	0.18154	0.038000	0.13279	3.407000	0.52644	1.543000	0.49345	0.455000	0.32223	CCG		0.468	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		11	7	0	0	0	1	0	11	7					T	94759050	C	T	94759050	3	4	345	1	0	0	0	0	1	0	0	0	8132	652	23	1	331	1	KDM4DL	11	94759050	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	12115167	94759050	40247466	36	33123											
CLEC9A	283420	broad.mit.edu	37	chr12	10205309	10205321	+	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	CCTCTCTTCAGTG	-													gcacgaggaagaaatatacaCctctcttcagtgggatagcc							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:10205309_10205321delCCTCTCTTCAGTG	ENST00000355819.1	+	4	636_648	c.23_35delCCTCTCTTCAGTG	c.(22-36)acctctcttcagtggfs	p.TSLQW8fs	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	8					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAATATACACCTCTCTTCAGTGGGATAGCCCA	0.441																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(22-36)agfs		C-type lectin domain family 9, member A																																				SO:0001589	frameshift_variant	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10205309_10205321delCCTCTCTTCAGTG		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.23_35delCCTCTCTTCAGTG	12.37:g.10205309_10205321delCCTCTCTTCAGTG	ENSP00000348074:p.Thr8fs					CLEC9A_ENST00000544751.1_3'UTR	p.TSLQW8fs	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			4	636_648	+			8					B0ZBM2	Frame_Shift_Del	DEL	ENST00000355819.1	37	c.23_35delCCTCTCTTCAGTG	CCDS8611.1																																																																																				0.441	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		11	54						11	54	---	---	---	---	-	10205321	CCTCTCTTCAGTG	-	10205309	7	5	345	1	0	1	0	1	0	0	0	0	3522	507	18	0	25	0	CLEC9A	12	10205309	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	TCGA-HW-A5KJ-01A-12D-A27K-08		10205309	123646586	37	33124											
IRAK4	51135	broad.mit.edu	37	chr12	44180218	44180218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctagatattaaagaagAaattgaagatgaagaaaaga	9	1	0	8			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:44180218A>C	ENST00000448290.2	+	11	1276	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	IRAK4_ENST00000431837.1_Missense_Mutation_p.E278A|IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATTAAAGAAGAAATTGAAGAT	0.249																																						ENST00000431837.1																			0											c.(832-834)gAa>gCa		interleukin-1 receptor-associated kinase 4							34	40	38					12																	44180218		2202	4284	6486	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180218A>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1205A>C	12.37:g.44180218A>C	ENSP00000390651:p.Glu402Ala					IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000448290.2_Missense_Mutation_p.E402A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A	p.E278A	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	10	1141	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	402			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.833A>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501897	0.85176	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110787	0.64402	D	0.000009	T	0.61862	0.2381	L	0.28344	0.845	0.80722	D	1	P	0.38048	0.616	P	0.47102	0.537	T	0.65487	-0.6156	10	0.72032	D	0.01	-29.0903	16.5494	0.84464	1.0:0.0:0.0:0.0	.	402	Q9NWZ3	IRAK4_HUMAN	A	278;278;402;402	ENSP00000408734:E278A;ENSP00000390327:E278A;ENSP00000390651:E402A;ENSP00000446490:E402A	ENSP00000390327:E278A	E	+	2	0	IRAK4	42466485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.092000	0.89530	2.299000	0.77371	0.528000	0.53228	GAA		0.249	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			3	47	0	0	0	1	0	3	47					C	44180218	A	C	44180218	3	2	345	1	0	0	0	0	1	0	0	0	7825	246	9	5	1243	5	IRAK4	12	44180218	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	33974909	44180218	89671677	38	33125											
RASSF9	9182	broad.mit.edu	37	chr12	86199470	86199470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaattgcatattgggctgCtcatctccccacgctttcca	6	14	2	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:86199470C>T	ENST00000361228.3	-	2	686	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	106	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTGGGCTGCTCATCTCCCC	0.448																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(316-318)gaG>gaA		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							120	120	120					12																	86199470		1914	4138	6052	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199470C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.318G>A	12.37:g.86199470C>T							p.E106E	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	686	-			106			Ras-associating.		B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.318G>A	CCDS44950.1																																																																																				0.448	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			13	123	0	0	0	1	0	13	123					T	86199470	C	T	86199470	2	4	345	1	0	0	0	0	0	0	0	1	13093	796	28	2		2	RASSF9	12	86199470	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	42019252	86199470	47652425	39	33126											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100478361	100478361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacgttgcactcaaattcaTgcaataactcattggcccat	5	12	3	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:100478361T>C	ENST00000279907.7	-	10	1393	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	394										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						CTCAAATTCATGCAATAACTC	0.393																																						ENST00000279907.7																			0				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						c.(1180-1182)cAt>cGt		UHRF1 binding protein 1-like							215	172	187					12																	100478361		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100478361T>C		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.1181A>G	12.37:g.100478361T>C	ENSP00000279907:p.His394Arg					UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R	p.H394R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			10	1393	-			394					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1181A>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101515	0.37048	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000551973;ENST00000551980	T;T;T;T;T	0.41400	3.01;3.01;1.61;1.61;1.0	5.48	5.48	0.80851	.	0.162935	0.53938	D	0.000045	T	0.34774	0.0909	L	0.36672	1.1	0.45718	D	0.998622	B;B	0.25955	0.082;0.138	B;B	0.25987	0.036;0.065	T	0.10706	-1.0618	10	0.19590	T	0.45	-17.9633	15.8683	0.79084	0.0:0.0:0.0:1.0	.	394;394	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	R	394;44;394;44;44	ENSP00000279907:H394R;ENSP00000444824:H44R;ENSP00000349285:H394R;ENSP00000448226:H44R;ENSP00000449189:H44R	ENSP00000279907:H394R	H	-	2	0	UHRF1BP1L	99002492	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.192000	0.65115	2.214000	0.71695	0.528000	0.53228	CAT		0.393	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		29	56	0	0	0	1	0	29	56					C	100478361	T	C	100478361	3	2	345	1	0	0	0	0	1	0	0	0	16966	1464	51	3	3285	3	UHRF1BP1L	12	100478361	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	14278891	100478361	33373534	40	33127											
ALDH1L2	160428	broad.mit.edu	37	chr12	105464505	105464507	+	In_Frame_Del	DEL	CTT	CTT	-													ggatctgtaggcttctgccaCttctttgatggtcttgccct							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:105464505_105464507delCTT	ENST00000258494.9	-	3	409_411	c.269_271delAAG	c.(268-273)gaagtg>gtg	p.E90del	ALDH1L2_ENST00000424857.2_In_Frame_Del_p.E90del|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	90	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)	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						GCTTCTGCCACTTCTTTGATGGT	0.463																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(268-273)gtg>g		aldehyde dehydrogenase 1 family, member L2																																				SO:0001651	inframe_deletion	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105464505_105464507delCTT	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.269_271delAAG	12.37:g.105464508_105464510delCTT	ENSP00000258494:p.Glu90del					ALDH1L2_ENST00000424857.2_In_Frame_Del_p.EV90del	p.EV90del	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			3	409_411	-			90			GART.		Q3SY68|Q68D62|Q6AI55|Q8N922	In_Frame_Del	DEL	ENST00000258494.9	37	c.269_271delAAG	CCDS31891.1																																																																																				0.463	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		20	86						20	86	---	---	---	---	-	105464507	CTT	-	105464505	7	5	345	1	0	1	0	1	0	0	0	0	495	565	20	0	2584	0	ALDH1L2	12	105464505	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	4986144	105464505	28387390	41	33128											
BRMS1L	84312	broad.mit.edu	37	chr14	36295747	36295749	+	In_Frame_Del	DEL	AAG	AAG	-													cagtccattcccgaggggatAagaaggagaccaaccatcac							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr14:36295747_36295749delAAG	ENST00000216807.7	+	1	224_226	c.25_27delAAG	c.(25-27)aagdel	p.K10del	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	10					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CCGAGGGGATAAGAAGGAGACCA	0.631																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(25-27)del		breast cancer metastasis-suppressor 1-like																																				SO:0001651	inframe_deletion	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36295747_36295749delAAG	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"breast cancer metastasis-suppressor 1"	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.25_27delAAG	14.37:g.36295750_36295752delAAG	ENSP00000216807:p.Lys10del					RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	p.K10del	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	1	224_226	+	Breast(36;0.137)|Hepatocellular(127;0.158)		10					A6NFW5|A6NH45|B2RD65|Q9BRI4	In_Frame_Del	DEL	ENST00000216807.7	37	c.25_27delAAG	CCDS32066.1																																																																																				0.631	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		11	9						11	9	---	---	---	---	-	36295749	AAG	-	36295747	7	5	345	1	0	1	0	1	0	0	0	0	1517	363	13	0	27	0	BRMS1L	14	36295747	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08		36295747	71053793	42	33129											
BAHD1	22893	broad.mit.edu	37	chr15	40751367	40751367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcagaagtagatgggcGctccactgagcccccagcac	11	15	0	3	rs150307966		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:40751367G>A	ENST00000416165.1	+	2	775	c.704G>A	c.(703-705)cGc>cAc	p.R235H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H|BAHD1_ENST00000561234.1_Missense_Mutation_p.R235H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	235					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTAGATGGGCGCTCCACTGAG	0.627																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(703-705)cGc>cAc		bromo adjacent homology domain containing 1		G	HIS/ARG	2,4404		0,2,2201	27	32	30		704	1.8	0.4	15	dbSNP_134	30	0,8600		0,0,4300	no	missense	BAHD1	NM_014952.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	235/781	40751367	2,13004	2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751367G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.704G>A	15.37:g.40751367G>A	ENSP00000396976:p.Arg235His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R235H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H	p.R235H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	963	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	235					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.704G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	9.976	1.226836	0.22542	4.54E-4	0.0	ENSG00000140320	ENST00000416165	T	0.20463	2.07	4.78	1.82	0.25136	.	0.390634	0.24271	N	0.039999	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.24512	-1.0158	10	0.41790	T	0.15	-4.1151	7.0495	0.25065	0.5292:0.0:0.4708:0.0	.	235;235;235	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	235	ENSP00000396976:R235H	ENSP00000396976:R235H	R	+	2	0	BAHD1	38538659	0.966000	0.33281	0.412000	0.26496	0.977000	0.68977	1.915000	0.39976	0.298000	0.22638	0.655000	0.94253	CGC		0.627	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		27	38	0	0	0	1	0	27	38					A	40751367	G	A	40751367	3	1	345	1	0	0	0	0	1	0	0	0	1297	1087	38	1	706	1	BAHD1	15	40751367	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		40751367	61780025	43	33130											
CA5A	763	broad.mit.edu	37	chr16	87938397	87938397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtctacaaacctctgCggggtacgcgtggccgtcca	12	15	2	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr16:87938397C>T	ENST00000309893.2	-	3	519	c.454G>A	c.(454-456)Gca>Aca	p.A152T		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	152					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	CAAACCTCTGCGGGGTACGCG	0.577																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(454-456)Gca>Aca		carbonic anhydrase VA, mitochondrial							98	88	92					16																	87938397		2198	4300	6498	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87938397C>T	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"Carbonic anhydrases"	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.454G>A	16.37:g.87938397C>T	ENSP00000309649:p.Ala152Thr						p.A152T	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	3	519	-			152					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.454G>A	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.309203	0.81247	.	.	ENSG00000174990	ENST00000309893	T	0.65549	-0.16	4.22	4.22	0.49857	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.057263	0.64402	D	0.000002	D	0.83454	0.5258	M	0.94021	3.485	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.88241	0.2910	10	0.87932	D	0	-13.1971	14.4554	0.67413	0.0:1.0:0.0:0.0	.	152	P35218	CAH5A_HUMAN	T	152	ENSP00000309649:A152T	ENSP00000309649:A152T	A	-	1	0	CA5A	86495898	1.000000	0.71417	0.535000	0.28026	0.016000	0.09150	5.878000	0.69682	2.034000	0.60081	0.561000	0.74099	GCA		0.577	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		43	101	0	0	0	1	0	43	101					T	87938397	C	T	87938397	3	4	345	1	0	0	0	0	1	0	0	0	2519	768	27	1	483	1	CA5A	16	87938397	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		87938397	2416356	44	33131											
KSR1	8844	broad.mit.edu	37	chr17	25932772	25932772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaactaccggcagacgCggcatgagaacgtggtgctc	14	10	0	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:25932772C>T	ENST00000319524.6	+	15	1993	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000398988.3_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	665	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CCGGCAGACGCGGCATGAGAA	0.597																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1582-1584)Cgg>Tgg		kinase suppressor of ras 1							20	22	21					17																	25932772		2049	4185	6234	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932772C>T	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.1993C>T	17.37:g.25932772C>T	ENSP00000323178:p.Arg665Trp					KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W|KSR1_ENST00000319524.6_Missense_Mutation_p.R665W	p.R528W	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	2027	+	Lung NSC(42;0.00836)		663					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1582C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.601585|4.601585	0.87055|0.87055	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000398988|ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83524|0.83524	0.5273|0.5273	H|H	0.99404|0.99404	4.55|4.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.997	D|D	0.90674|0.90674	0.4600|0.4600	5|10	.|0.87932	.|D	.|0	.|.	18.7549|18.7549	0.91828|0.91828	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|663;643	.|Q8IVT5;F5H0K8	.|KSR1_HUMAN;.	V|W	378|665;643;528;528	.|ENSP00000323178:R665W;ENSP00000438795:R643W;ENSP00000268763:R528W	.|ENSP00000268763:R528W	A|R	+|+	2|1	0|2	KSR1|KSR1	22956899|22956899	0.981000|0.981000	0.34729|0.34729	0.980000|0.980000	0.43619|0.43619	0.871000|0.871000	0.50021|0.50021	2.624000|2.624000	0.46444|0.46444	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.597	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		19	26	0	0	0	1	0	19	26					T	25932772	C	T	25932772	3	4	345	1	0	0	0	0	1	0	0	0	8581	759	27	1	1628	1	KSR1	17	25932772	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		25932772	55262438	45	33132											
PIGW	284098	broad.mit.edu	37	chr17	34893506	34893508	+	In_Frame_Del	DEL	AGG	AGG	-													caatggtttgtctagaggtcAggaggagaaaatatatggaa							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:34893506_34893508delAGG	ENST00000592983.1	+	2	1136_1138	c.556_558delAGG	c.(556-558)aggdel	p.R188del	MYO19_ENST00000268852.9_5'Flank|PIGW_ENST00000328396.2_In_Frame_Del_p.R188del|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000431794.3_5'Flank|MYO19_ENST00000586007.1_5'Flank			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	188					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)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGAGGTCAGGAGGAGAAAAT	0.424																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(556-558)del		phosphatidylinositol glycan anchor biosynthesis, class W																																				SO:0001651	inframe_deletion	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893506_34893508delAGG	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.556_558delAGG	17.37:g.34893509_34893511delAGG	ENSP00000468778:p.Arg188del					PIGW_ENST00000328396.2_In_Frame_Del_p.R188del|MYO19_ENST00000590081.1_Intron	p.R188del			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1136_1138	+		Breast(25;0.00957)|Ovarian(249;0.17)	188					Q8N9G3	In_Frame_Del	DEL	ENST00000592983.1	37	c.556_558delAGG	CCDS11313.1																																																																																				0.424	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		50	141						50	141	---	---	---	---	-	34893508	AGG	-	34893506	7	5	345	1	0	1	0	1	0	0	0	0	11902	179	7	0	558	0	PIGW	17	34893506	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	8960734	34893506	46301704	46	33133											
ADAM11	4185	broad.mit.edu	37	chr17	42855353	42855353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggaagtgcatctgtcagCcagactggacaggcaaagac	13	9	2	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:42855353C>A	ENST00000200557.6	+	24	2273	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	702	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CATCTGTCAGCCAGACTGGAC	0.612																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2104-2106)Cca>Aca		ADAM metallopeptidase domain 11							112	111	112					17																	42855353		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855353C>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2104C>A	17.37:g.42855353C>A	ENSP00000200557:p.Pro702Thr					ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T	p.P702T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			24	2273	+		Prostate(33;0.0959)	702			EGF-like.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2104C>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242063	0.10077	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.51325	3.16;0.71	4.3	3.32	0.38043	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.217591	0.38217	N	0.001763	T	0.39332	0.1074	L	0.46157	1.445	0.40303	D	0.978632	B;P	0.39022	0.006;0.655	B;B	0.39904	0.004;0.313	T	0.15578	-1.0432	10	0.18710	T	0.47	.	11.0295	0.47763	0.0:0.9061:0.0:0.0939	.	502;702	B4DKD2;O75078	.;ADA11_HUMAN	T	702;502	ENSP00000200557:P702T;ENSP00000443773:P502T	ENSP00000200557:P702T	P	+	1	0	ADAM11	40210879	0.027000	0.19231	1.000000	0.80357	0.977000	0.68977	0.103000	0.15292	1.012000	0.39366	0.561000	0.74099	CCA		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		5	287	1	0	0.0215528	1	0.0215528	5	287					A	42855353	C	A	42855353	3	1	345	1	0	0	0	0	1	0	0	0	235	739	26	4	2198	4	ADAM11	17	42855353	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	7961847	42855353	38339857	47	33134											
UNC13A	23025	broad.mit.edu	37	chr19	17752258	17752258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggcaaactcgtccacaatCtcctgggctgtctcatcgta	8	13	2	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:17752258C>A	ENST00000519716.2	-	21	2579	c.2580G>T	c.(2578-2580)gaG>gaT	p.E860D	UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E948D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	860					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						CGTCCACAATCTCCTGGGCTG	0.567																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2842-2844)gaG>gaT		unc-13 homolog A (C. elegans)							122	122	122					19																	17752258		2182	4286	6468	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17752258C>A	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.2580G>T	19.37:g.17752258C>A	ENSP00000429562:p.Glu860Asp					UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E860D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D	p.E948D			Q9UPW8	UN13A_HUMAN			22	2843	-			860					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2844G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	13.53	2.264205	0.39995	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;D;D	0.82711	-1.62;-1.64;-1.62;-1.49;-1.5;-1.63	3.0	0.835	0.18886	.	0.174346	0.39544	U	0.001331	T	0.76976	0.4063	L	0.50333	1.59	0.33245	D	0.557703	P	0.36944	0.574	B	0.42386	0.386	T	0.76697	-0.2864	10	0.52906	T	0.07	-13.8481	4.5854	0.12280	0.0:0.5775:0.0:0.4225	.	860	Q9UPW8	UN13A_HUMAN	D	860;948;860;860;860;858	ENSP00000429562:E860D;ENSP00000400409:E948D;ENSP00000252773:E860D;ENSP00000447236:E860D;ENSP00000447572:E860D;ENSP00000446831:E858D	ENSP00000252773:E860D	E	-	3	2	UNC13A	17613258	0.994000	0.37717	1.000000	0.80357	0.958000	0.62258	0.419000	0.21247	0.609000	0.30018	0.299000	0.19835	GAG		0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		30	49	1	0	5.77227e-19	1	6.12568e-19	30	49					A	17752258	C	A	17752258	3	1	345	1	0	0	0	0	1	0	0	0	16981	912	32	4	2623	4	UNC13A	19	17752258	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		17752258	41376725	48	33135											
ZNF614	80110	broad.mit.edu	37	chr19	52519785	52519785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgtacaacaagatagcGcttcatggtgaagccttttc	9	9	1	3	rs368927052		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:52519785G>A	ENST00000270649.6	-	5	1610	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	356					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)		ACAAGATAGCGCTTCATGGTG	0.428																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1066-1068)Cgc>Tgc		zinc finger protein 614		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	129	119	123		1066	-1	0.2	19		123	0,8600		0,0,4300	no	missense	ZNF614	NM_025040.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	356/586	52519785	1,13005	2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519785G>A	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.1066C>T	19.37:g.52519785G>A	ENSP00000270649:p.Arg356Cys					ZNF614_ENST00000356322.6_Intron	p.R356C	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1610	-		all_neural(266;0.0505)	356					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1066C>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544394	0.45280	2.27E-4	0.0	ENSG00000142556	ENST00000270649	T	0.08102	3.13	3.8	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09774	0.0240	L	0.41573	1.285	0.09310	N	1	D	0.69078	0.997	P	0.51657	0.676	T	0.22977	-1.0201	9	0.87932	D	0	.	3.1119	0.06361	0.3743:0.0:0.3195:0.3061	.	356	Q8N883	ZN614_HUMAN	C	356	ENSP00000270649:R356C	ENSP00000270649:R356C	R	-	1	0	ZNF614	57211597	0.000000	0.05858	0.208000	0.23602	0.988000	0.76386	-0.870000	0.04228	-0.013000	0.14199	0.655000	0.94253	CGC		0.428	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		11	68	0	0	0	1	0	11	68					A	52519785	G	A	52519785	3	1	345	1	0	0	0	0	1	0	0	0	18036	1087	38	1	695	1	ZNF614	19	52519785	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	34767527	52519785	6609198	49	33136											
MAVS	57506	broad.mit.edu	37	chr20	3841977	3841977	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactacatctttgtcctctAgggacctcggaccgtccccc	7	17	3	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:3841977A>G	ENST00000428216.2	+	4	420		c.e4-1		MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						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						TTTGTCCTCTAGGGACCTCGG	0.602																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.e4-1		mitochondrial antiviral signaling protein							68	63	65					20																	3841977		2203	4300	6503	SO:0001630	splice_region_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3841977A>G	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.293-1A>G	20.37:g.3841977A>G						MAVS_ENST00000416600.2_Splice_Site|MAVS_ENST00000358134.6_Intron		NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			4	420	+								A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Splice_Site	SNP	ENST00000428216.2	37		CCDS33437.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376565	0.24857	.	.	ENSG00000088888	ENST00000428216	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9873	0.36001	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAVS	3789977	0.652000	0.27349	0.197000	0.23402	0.042000	0.13812	2.207000	0.42788	1.895000	0.54865	0.482000	0.46254	.		0.602	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	Intron	48	86	0	0	0	1	0	48	86					G	3841977	A	G	3841977	5	3	345	1	0	0	0	0	0	0	1	0	9338	434	15	3	301	3	MAVS	20	3841977	Splice_Site	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		3841977	59183543	50	33137											
CTCFL	140690	broad.mit.edu	37	chr20	56078504	56078504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtaccgtctccgttcgCggcttccttccatcccttcg	7	17	2	0	rs142170954	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:56078504C>T	ENST00000608263.1	-	9	2489	c.1828G>A	c.(1828-1830)Gcg>Acg	p.A610T	CTCFL_ENST00000608440.1_Missense_Mutation_p.A610T|CTCFL_ENST00000429804.3_Missense_Mutation_p.A560T|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T|CTCFL_ENST00000423479.3_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.3_Missense_Mutation_p.A405T|CTCFL_ENST00000609232.1_Missense_Mutation_p.A610T|CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	610					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCCGTTCGCGGCTTCCTTC	0.502													C|||	14	0.00279553	0.0076	0.0	5008	,	,		19122	0.0		0.003	False		,,,				2504	0.001					ENST00000429804.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1678-1680)Gcg>Acg		CCCTC-binding factor (zinc finger protein)-like		C	THR/ALA	33,4373	39.2+/-71.8	1,31,2171	203	178	186		1828	0.2	0.1	20	dbSNP_134	186	12,8588	9.1+/-34.3	0,12,4288	yes	missense	CTCFL	NM_080618.2	58	1,43,6459	TT,TC,CC		0.1395,0.749,0.346	benign	610/664	56078504	45,12961	2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56078504C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1828G>A	20.37:g.56078504C>T	ENSP00000476783:p.Ala610Thr					CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.2_Missense_Mutation_p.A610T|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.A610T|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T	p.A560T	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		9	2238	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		610					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1678G>A	CCDS13459.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	0	0.0	3	0.00395778364116095	C	4.349	0.064138	0.08388	0.00749	0.001395	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686	T;T;T;T;T;T	0.10668	2.87;2.85;2.85;3.08;4.98;4.98	0.158	0.158	0.14942	.	1.652230	0.04097	N	0.312266	T	0.02494	0.0076	N	0.08118	0	0.09310	N	0.999997	B;B;B;P;B	0.37500	0.113;0.0;0.41;0.597;0.002	B;B;B;B;B	0.15052	0.004;0.0;0.006;0.012;0.0	T	0.31888	-0.9927	9	0.12766	T	0.61	.	.	.	.	.	610;560;610;610;610	A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	T	610;610;610;560;610;348	ENSP00000415579:A610T;ENSP00000243914:A610T;ENSP00000360239:A610T;ENSP00000415329:A560T;ENSP00000392034:A610T;ENSP00000437999:A348T	ENSP00000243914:A610T	A	-	1	0	CTCFL	55511910	0.004000	0.15560	0.065000	0.19835	0.185000	0.23345	0.571000	0.23669	0.202000	0.20498	0.205000	0.17691	GCG		0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		4	151	0	0	0	1	0	4	151					T	56078504	C	T	56078504	3	4	345	1	0	0	0	0	1	0	0	0	4001	768	27	1	171	1	CTCFL	20	56078504	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	52236527	56078504	6947016	51	33138											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210518	28210518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgccattgttccTggatcccctctggttccgct	9	13	1	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:28210518T>A	ENST00000284984.3	-	9	2738	c.2284A>T	c.(2284-2286)Agg>Tgg	p.R762W		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	762	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)		CCATTGTTCCTGGATCCCCTC	0.448																																						ENST00000284984.2																			0				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						c.(2284-2286)Agg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 1							92	72	79					21																	28210518		2202	4299	6501	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210518T>A	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.2284A>T	21.37:g.28210518T>A	ENSP00000284984:p.Arg762Trp						p.R762W	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	2738	-		Breast(209;0.000962)	762			Spacer.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2284A>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121433	0.77436	.	.	ENSG00000154734	ENST00000284984	T	0.63913	-0.07	5.65	5.65	0.86999	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.79417	0.4442	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.81711	-0.0808	9	0.66056	D	0.02	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	762	Q9UHI8	ATS1_HUMAN	W	762	ENSP00000284984:R762W	ENSP00000284984:R762W	R	-	1	2	ADAMTS1	27132389	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	1.511000	0.35801	2.371000	0.80710	0.533000	0.62120	AGG		0.448	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			22	27	0	0	0	1	0	22	27					A	28210518	T	A	28210518	3	1	345	1	0	0	0	0	1	0	0	0	255	1579	55	5	623	5	ADAMTS1	21	28210518	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		28210518	19919377	52	33139											
ERG	2078	broad.mit.edu	37	chr21	39774503	39774503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctagcatgcattaaccGtggagagttttgtaaggctt	11	6	1	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:39774503G>A	ENST00000417133.2	-	7	855	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	ERG_ENST00000442448.1_Missense_Mutation_p.R224W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000429727.2_Intron|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000398905.1_Missense_Mutation_p.R217W	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGCATTAACCGTGGAGAGTTT	0.438			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(670-672)Cgg>Tgg		v-ets avian erythroblastosis virus E26 oncogene homolog							116	102	106					21																	39774503		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39774503G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.670C>T	21.37:g.39774503G>A	ENSP00000414150:p.Arg224Trp					ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000417133.2_Missense_Mutation_p.R224W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W|ERG_ENST00000398905.1_Missense_Mutation_p.R217W|ERG_ENST00000429727.2_Intron	p.R224W	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			7	941	-		Prostate(19;3.6e-06)	224					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.670C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048930	0.93740	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.16196	2.4;2.36;2.42;2.42;2.4;2.42;2.37;2.4;2.43;2.42	5.63	5.63	0.86233	.	0.123853	0.52532	D	0.000068	T	0.34250	0.0891	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;1.0	P;P;D;P;D	0.70016	0.864;0.723;0.967;0.901;0.949	T	0.01127	-1.1443	10	0.51188	T	0.08	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	224;217;224;224;217	P11308;B5MDW0;P11308-6;P11308-1;P11308-4	ERG_HUMAN;.;.;.;.	W	217;217;217;125;224;224;224;224;125;224	ENSP00000381877:R217W;ENSP00000381879:R217W;ENSP00000288319:R217W;ENSP00000381871:R125W;ENSP00000381882:R224W;ENSP00000414150:R224W;ENSP00000381881:R224W;ENSP00000394694:R224W;ENSP00000396268:R125W;ENSP00000381891:R224W	ENSP00000288319:R217W	R	-	1	2	ERG	38696373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.808000	0.86044	2.652000	0.90054	0.655000	0.94253	CGG		0.438	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		12	36	0	0	0	1	0	12	36					A	39774503	G	A	39774503	3	1	345	1	0	0	0	0	1	0	0	0	5222	1144	40	1	814	1	ERG	21	39774503	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	11563985	39774503	8355392	53	33140											
ZNF280A	129025	broad.mit.edu	37	chr22	22869694	22869694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacatgatttgcaggctgCgacacgtgagcaggatattg	13	8	1	2	rs150360634	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:22869694C>T	ENST00000302097.3	-	2	513	c.261G>A	c.(259-261)tcG>tcA	p.S87S	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGCAGGCTGCGACACGTGAG	0.468													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		18252	0.0		0.0	False		,,,				2504	0.0					ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(259-261)tcG>tcA		zinc finger protein 280A		C		0,4406		0,0,2203	199	164	176		261	-3.9	0	22	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF280A	NM_080740.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		87/543	22869694	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869694C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.261G>A	22.37:g.22869694C>T							p.S87S	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	513	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	87						Silent	SNP	ENST00000302097.3	37	c.261G>A	CCDS13800.1																																																																																				0.468	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		59	97	0	0	0	1	0	59	97					T	22869694	C	T	22869694	2	4	345	1	0	0	0	0	0	0	0	1	17811	755	27	1		1	ZNF280A	22	22869694	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		22869694	28434872	54	33141											
CYTSA	23384	broad.mit.edu	37	chr22	24718811	24718812	+	Frame_Shift_Del	DEL	TT	TT	-													gacaaagaaaaagcagagacTttggctagtagcttgcagga							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:24718811_24718812delTT	ENST00000314328.9	+	5	2148_2149	c.1863_1864delTT	c.(1861-1866)actttgfs	p.L622fs	SPECC1L_ENST00000437398.1_Frame_Shift_Del_p.L622fs|SPECC1L_ENST00000541492.1_Frame_Shift_Del_p.L622fs|SPECC1L-ADORA2A_ENST00000358654.2_Frame_Shift_Del_p.L622fs|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	622					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGCAGAGACTTTGGCTAGTAG	0.416																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1861-1866)actgfs		sperm antigen with calponin homology and coiled-coil domains 1-like																																				SO:0001589	frameshift_variant	23384				cell cycle|cell division			g.chr22:24718811_24718812delTT	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1863_1864delTT	22.37:g.24718811_24718812delTT	ENSP00000325785:p.Leu622fs					KB-1896H10.1_ENST00000358654.2_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000437398.1_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000541492.1_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000416735.1_Intron	p.TL621fs	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			5	2148_2149	+			621					B7Z758|F5H1H6|O15081	Frame_Shift_Del	DEL	ENST00000314328.9	37	c.1863_1864delTT	CCDS33619.1																																																																																				0.416	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		50	103						50	103	---	---	---	---	-	24718812	TT	-	24718811	7	5	345	1	0	1	0	1	0	0	0	0	4209	1596	56	0	1873	0	CYTSA	22	24718811	Frame_Shift_Del	DEL	TT	TCGA-HW-A5KJ-01A-12D-A27K-08	1849117	24718811	26585755	55	33142											
SOX10	6663	broad.mit.edu	37	chr22	38379483	38379483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcatgggccgcttgacGtgcggcttgcttttgctggc	15	11	1	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:38379483G>A	ENST00000396884.2	-	2	591	c.309C>T	c.(307-309)caC>caT	p.H103H	SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	103					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCGCTTGACGTGCGGCTTGC	0.662																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	ENST00000396884.2																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(307-309)caC>caT		SRY (sex determining region Y)-box 10							52	39	44					22																	38379483		2203	4299	6502	SO:0001819	synonymous_variant	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38379483G>A		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.309C>T	22.37:g.38379483G>A						POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H|SOX10_ENST00000470555.1_Intron	p.H103H	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN			2	591	-	Melanoma(58;0.045)		103					B4DV62|Q6FHW7	Silent	SNP	ENST00000396884.2	37	c.309C>T	CCDS13964.1																																																																																				0.662	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		3	29	0	0	0	1	0	3	29					A	38379483	G	A	38379483	2	1	345	1	0	0	0	0	0	0	0	1	14941	1136	40	1		1	SOX10	22	38379483	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	13660672	38379483	12925083	56	33143											
PRR5	55615	broad.mit.edu	37	chr22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-													tcactggcagagacctgggaCttcttcttcagtgacgtgct					rs202247021|rs371769405		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:45127647_45127649delCTT	ENST00000336985.6	+	5	637_639	c.360_362delCTT	c.(358-363)gacttc>gac	p.F123del	ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.F123del|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000403581.1_In_Frame_Del_p.F146del|PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.F123del|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_In_Frame_Del_p.F114del	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	123					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)		AGACCTGGGACTTCTTCTTCAGT	0.66																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(427-432)gac>ga		proline rich 5 (renal)																																				SO:0001651	inframe_deletion	55615							g.chr22:45127647_45127649delCTT	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.360_362delCTT	22.37:g.45127653_45127655delCTT	ENSP00000337464:p.Phe123del					PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.DF120del|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000336985.6_In_Frame_Del_p.DF120del|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.DF120del|PRR5_ENST00000477331.1_3'UTR	p.DF143del	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	7	1038_1040	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	In_Frame_Del	DEL	ENST00000336985.6	37	c.429_431delCTT	CCDS14058.1																																																																																				0.66	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		12	102						12	102	---	---	---	---	-	45127649	CTT	-	45127647	7	5	345	1	0	1	0	1	0	0	0	0	12600	564	20	0	378	0	PRR5	22	45127647	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	6748164	45127647	6176919	57	33144											
BCOR	54880	broad.mit.edu	37	chrX	39934072	39934075	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													cattgatgttgagagggctcTgtttgtcgctggcaggcctg							TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chrX:39934072_39934075delTGTT	ENST00000378444.4	-	4	752_755	c.524_527delAACA	c.(523-528)aaacagfs	p.KQ175fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	175					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						GAGAGGGCTCTGTTTGTCGCTGGC	0.539			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(523-528)agfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934072_39934075delTGTT	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.524_527delAACA	X.37:g.39934072_39934075delTGTT	ENSP00000367705:p.Lys175fs					BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.KQ175fs	p.KQ175fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	886_889	-			175					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.524_527delAACA	CCDS48093.1																																																																																				0.539	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	80						7	80	---	---	---	---	-	39934075	TGTT	-	39934072	7	5	345	1	0	1	0	1	0	0	0	0	1386	1580	55	0	4788	0	BCOR	23	39934072	Frame_Shift_Del	DEL	TGTT	TCGA-HW-A5KJ-01A-12D-A27K-08		39934072	115336488	58	33145											
EXTL1	2134	broad.mit.edu	37	chr1	26360306	26360306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacactgctgagaggaccaaCgaattctccatggttctcac	8	12	2	1	rs137944707	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:26360306C>T	ENST00000374280.3	+	9	2505	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	546					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGACCAACGAATTCTCCA	0.597													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16773	0.0		0.001	False		,,,				2504	0.0					ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1636-1638)aaC>aaT		exostosin-like glycosyltransferase 1		C		12,4394	20.2+/-43.8	0,12,2191	88	85	86		1638	-9.8	0.4	1	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXTL1	NM_004455.2		0,13,6490	TT,TC,CC		0.0116,0.2724,0.1		546/677	26360306	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360306C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1638C>T	1.37:g.26360306C>T							p.N546N	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	9	2505	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	546					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.1638C>T	CCDS271.1																																																																																				0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		17	78	0	0	0	1	0	17	78					T	26360306	C	T	26360306	2	4	346	1	0	0	0	0	0	0	0	1	5325	535	19	1		1	EXTL1	1	26360306	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26360306	222890315	1	33146											
KIAA0754	643314	broad.mit.edu	37	chr1	39876726	39876726	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctggccgagggccacAaaaagtttagctaagggagg	14	9	0	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:39876726A>G	ENST00000530275.1	+	1	576	c.381A>G	c.(379-381)acA>acG	p.T127T	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	127										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)			CGAGGGCCACAAAAAGTTTAG	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(379-381)acA>acG		KIAA0754							32	33	33					1																	39876726		1951	4146	6097	SO:0001819	synonymous_variant	643314							g.chr1:39876726A>G			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.381A>G	1.37:g.39876726A>G			OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	p.T127T	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	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)		1	576	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	127					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.381A>G																																																																																					0.512	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		10	29	0	0	0	1	0	10	29					G	39876726	A	G	39876726	2	3	346	1	0	0	0	0	0	0	0	1	8192	117	5	3		3	KIAA0754	1	39876726	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	13516420	39876726	209373895	2	33147											
C1orf182	128229	broad.mit.edu	37	chr1	156314492	156314492	+	Frame_Shift_Del	DEL	G	G	-													aacatccagacaacaaagctGccctcgggtaaggatgtagg							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:156314492delG	ENST00000368255.3	+	3	516	c.156delG	c.(154-156)ctgfs	p.L52fs	TSACC_ENST00000368253.2_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368254.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000481479.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368252.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000470342.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000466306.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368251.1_Frame_Shift_Del_p.L52fs	NM_144627.3	NP_653228.1	Q96A04	TSACC_HUMAN	TSSK6 activating co-chaperone	52						cytoplasm (GO:0005737)	chaperone binding (GO:0051087)										CAACAAAGCTGCCCTCGGGTA	0.512																																						ENST00000368255.3																			0											c.(154-156)ctfs		TSSK6 activating co-chaperone							79	83	82					1																	156314492		2203	4300	6503	SO:0001589	frameshift_variant	128229							g.chr1:156314492delG	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.156delG	1.37:g.156314492delG	ENSP00000357238:p.Leu52fs					TSACC_ENST00000368253.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368251.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368254.1_Frame_Shift_Del_p.L52fs|TSACC_ENST00000368252.1_Frame_Shift_Del_p.L52fs	p.L52fs	NM_144627.3	NP_653228.1					3	516	+								D3DVB9	Frame_Shift_Del	DEL	ENST00000368255.3	37	c.156delG	CCDS1141.1																																																																																				0.512	TSACC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060594.1	NM_144627		15	128						15	128	---	---	---	---	-	156314492	G	-	156314492	7	5	346	1	0	1	0	1	0	0	0	0	2018	1306	46	0	162	0	C1orf182	1	156314492	Frame_Shift_Del	DEL	G	TCGA-HW-A5KK-01A-11D-A27K-08	116437766	156314492	92936129	3	33148											
CACNA1E	777	broad.mit.edu	37	chr1	181724388	181724388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggccgtcttcgactgcGtagtgacctccttgaagaat	10	12	1	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:181724388G>A	ENST00000367573.2	+	28	3844	c.3844G>A	c.(3844-3846)Gta>Ata	p.V1282I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1263I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1282					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						CTTCGACTGCGTAGTGACCTC	0.502																																						ENST00000526775.1																			0				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						c.(3787-3789)Gta>Ata		calcium channel, voltage-dependent, R type, alpha 1E subunit							145	139	141					1																	181724388		2011	4192	6203	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724388G>A	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.3844G>A	1.37:g.181724388G>A	ENSP00000356545:p.Val1282Ile					CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1282I	p.V1263I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			27	3952	+			1282					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3787G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270364	0.80469	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98378	0.9461	L	0.48218	1.51	0.80722	D	1	P;D;D	0.71674	0.689;0.998;0.998	P;P;D	0.73708	0.448;0.908;0.981	D	0.99593	1.0976	10	0.52906	T	0.07	.	18.524	0.90965	0.0:0.0:1.0:0.0	.	1263;1282;1282	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1282;1263;1233;1214;889;1263;1282	ENSP00000356542:V1282I;ENSP00000434814:V1263I;ENSP00000350183:V1233I;ENSP00000351101:V1214I;ENSP00000356539:V889I;ENSP00000353222:V1263I;ENSP00000356545:V1282I	ENSP00000350183:V1233I	V	+	1	0	CACNA1E	179991011	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.685000	0.98661	2.468000	0.83385	0.650000	0.86243	GTA		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	62	0	0	0	1	0	13	62					A	181724388	G	A	181724388	3	1	346	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3954	1	CACNA1E	1	181724388	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	25409896	181724388	67526233	4	33149											
OBSCN	84033	broad.mit.edu	37	chr1	228430986	228430986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtggcccaggcccagaCggaggtgatgtggtacaaag	17	9	0	2	rs199928910	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:228430986C>T	ENST00000422127.1	+	10	3076	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000570156.2_Missense_Mutation_p.T1103M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1011	Ig-like 10.			T -> A (in Ref. 1; CAC44768). {ECO:0000305}.	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)				CAGGCCCAGACGGAGGTGATG	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		15565	0.0		0.001	False		,,,				2504	0.001					ENST00000570156.2																			0				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						c.(3307-3309)aCg>aTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF																																				SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228430986C>T	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.3032C>T	1.37:g.228430986C>T	ENSP00000409493:p.Thr1011Met					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1011M	p.T1103M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			11	3382	+		Prostate(94;0.0405)	38			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3308C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.244279	0.22796	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66815	-0.23;-0.23	5.22	3.15	0.36227	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.665053	0.11881	U	0.520470	T	0.79713	0.4493	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	T	0.74077	-0.3781	10	0.48119	T	0.1	.	11.3655	0.49668	0.0:0.8417:0.0:0.1583	.	1011;1011	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1011	ENSP00000284548:T1011M;ENSP00000409493:T1011M	ENSP00000284548:T1011M	T	+	2	0	OBSCN	226497609	0.992000	0.36948	0.419000	0.26584	0.175000	0.22909	2.489000	0.45285	0.474000	0.27392	0.460000	0.39030	ACG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	55	0	0	0	1	0	7	55					T	228430986	C	T	228430986	3	4	346	1	0	0	0	0	1	0	0	0	10812	536	19	1	3066	1	OBSCN	1	228430986	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	46706598	228430986	20819635	5	33150											
VAMP5	10791	broad.mit.edu	37	chr2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggaatagagttggagCggtgccagcagcaggcgaac	17	8	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602																																						ENST00000306384.4																			1	Substitution - Missense(1)	p.R8W(1)	large_intestine(1)	NS(1)|large_intestine(3)|lung(1)	5						c.(22-24)Cgg>Tgg		vesicle-associated membrane protein 5							99	86	90					2																	85818866		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818866C>T	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"Vesicle-associated membrane proteins"	12646	protein-coding gene	gene with protein product	"myobrevin"	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.22C>T	2.37:g.85818866C>T	ENSP00000305647:p.Arg8Trp						p.R8W	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	105	+			8			v-SNARE coiled-coil homology.		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.22C>T	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966516	0.74131	.	.	ENSG00000168899	ENST00000306384	T	0.46451	0.87	4.84	3.86	0.44501	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.58163	0.2103	M	0.78456	2.415	0.26041	N	0.981608	D	0.76494	0.999	P	0.57846	0.828	T	0.52895	-0.8514	10	0.87932	D	0	.	11.017	0.47696	0.199:0.801:0.0:0.0	.	8	O95183	VAMP5_HUMAN	W	8	ENSP00000305647:R8W	ENSP00000305647:R8W	R	+	1	2	VAMP5	85672377	0.838000	0.29461	0.993000	0.49108	0.993000	0.82548	1.643000	0.37217	2.240000	0.73641	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		19	98	0	0	0	1	0	19	98					T	85818866	C	T	85818866	3	4	346	1	0	0	0	0	1	0	0	0	17113	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		85818866	157380507	6	33151											
FAM123C	205147	broad.mit.edu	37	chr2	131521800	131521800	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccctgacatgctggagCagaaacagtccagcagctcc	13	13	0	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:131521800C>T	ENST00000423981.1	+	2	2265	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q719*	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	719					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CATGCTGGAGCAGAAACAGTC	0.632																																						ENST00000423981.1																			0											c.(2155-2157)Cag>Tag		APC membrane recruitment protein 3							46	43	44					2																	131521800		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131521800C>T	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.2155C>T	2.37:g.131521800C>T	ENSP00000392700:p.Gln719*					AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q719*	p.Q719*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2265	+								B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.2155C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.908540	0.97093	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	4.21	1.21	0.21127	.	0.367899	0.19709	N	0.107845	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.2747	0.43504	0.5384:0.4616:0.0:0.0	.	.	.	.	X	719	.	ENSP00000314914:Q719X	Q	+	1	0	FAM123C	131238270	0.010000	0.17322	0.010000	0.14722	0.018000	0.09664	0.510000	0.22723	0.107000	0.17824	-0.358000	0.07595	CAG		0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		12	42	0	0	0	1	0	12	42					T	131521800	C	T	131521800	4	4	346	1	0	0	0	0	0	1	0	0	5424	711	25	2	2157	2	FAM123C	2	131521800	Nonsense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	45702934	131521800	111677573	7	33152											
PGAP1	80055	broad.mit.edu	37	chr2	197708797	197708797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctagagtgtttgggAttctataaaacaataaagta	7	5	3	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:197708797A>G	ENST00000354764.4	-	25	2454	c.2340T>C	c.(2338-2340)aaT>aaC	p.N780N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	780					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						AGTGTTTGGGATTCTATAAAA	0.303																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(2338-2340)aaT>aaC		post-GPI attachment to proteins 1							90	83	85					2																	197708797		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197708797A>G		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.2340T>C	2.37:g.197708797A>G							p.N780N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			25	2454	-			780					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.2340T>C	CCDS2318.1																																																																																				0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		4	21	0	0	0	1	0	4	21					G	197708797	A	G	197708797	2	3	346	1	0	0	0	0	0	0	0	1	11777	330	12	3		3	PGAP1	2	197708797	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	66186997	197708797	45490576	8	33153											
FN1	2335	broad.mit.edu	37	chr2	216288193	216288193	+	Missense_Mutation	SNP	G	G	C													gtaattgtggttgttgtataGgaaggggaagtggcacaagg							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288193G>C	ENST00000359671.1	-	9	1538	c.1273C>G	c.(1273-1275)Cta>Gta	p.L425V	FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V|FN1_ENST00000354785.4_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V			P02751	FINC_HUMAN	fibronectin 1	425	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTGTTGTATAGGAAGGGGAAG	0.463																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1273-1275)Cta>Gta		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134	119	124					2																	216288193		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288193G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1273C>G	2.37:g.216288193G>C	ENSP00000352696:p.Leu425Val					FN1_ENST00000359671.1_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V	p.L425V			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1642	-		Renal(323;0.127)	425			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1273C>G		.	.	.	.	.	.	.	.	.	.	G	17.80	3.478700	0.63849	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	6.06	2.55	0.30701	.	0.000000	0.50627	D	0.000108	T	0.53481	0.1799	L	0.37507	1.11	0.54753	D	0.999983	B;D;B;P;B;B;P;D;B;B;B	0.58970	0.342;0.965;0.098;0.861;0.221;0.262;0.811;0.984;0.221;0.221;0.193	B;D;B;B;B;B;B;D;B;B;B	0.71184	0.147;0.953;0.167;0.298;0.056;0.057;0.38;0.972;0.034;0.034;0.126	T	0.53034	-0.8495	10	0.72032	D	0.01	.	8.825	0.35050	0.3949:0.0:0.6051:0.0	.	425;425;425;425;425;425;425;425;425;425;425	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	V	425	ENSP00000394423:L425V;ENSP00000323534:L425V;ENSP00000338200:L425V;ENSP00000350534:L425V;ENSP00000346839:L425V;ENSP00000352696:L425V;ENSP00000265312:L425V;ENSP00000273049:L425V;ENSP00000349509:L425V;ENSP00000410422:L425V;ENSP00000415018:L425V;ENSP00000399538:L425V;ENSP00000348285:L425V;ENSP00000398907:L425V	ENSP00000265313:L425V	L	-	1	2	FN1	215996438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.704000	0.37857	0.707000	0.31934	0.655000	0.94253	CTA		0.463	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	54	0	0	0	1	0	6	54					C	216288193	G	C	216288193	3	2	346	1	0	0	0	0	1	0	0	0	5962	991	35	4	6345	4	FN1	2	216288193	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	18579396	216288193	26911180	9	33154	147	2									
FN1	2335	broad.mit.edu	37	chr2	216288199	216288199	+	Missense_Mutation	SNP	G	G	T													gtggttgttgtataggaaggGgaagtggcacaaggcaccat							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288199G>T	ENST00000359671.1	-	9	1532	c.1267C>A	c.(1267-1269)Ccc>Acc	p.P423T	FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T|FN1_ENST00000354785.4_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T			P02751	FINC_HUMAN	fibronectin 1	423	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TATAGGAAGGGGAAGTGGCAC	0.463																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1267-1269)Ccc>Acc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134	118	124					2																	216288199		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288199G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1267C>A	2.37:g.216288199G>T	ENSP00000352696:p.Pro423Thr					FN1_ENST00000359671.1_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T	p.P423T			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1636	-		Renal(323;0.127)	423			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1267C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.148695	0.94603	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000003	D	0.98235	0.9416	H	0.97265	3.97	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;P	0.89917	1.0;0.999;1.0;0.944;1.0;1.0;1.0;1.0;1.0;1.0;0.762	D;D;D;P;D;D;D;D;D;D;P	0.97110	1.0;0.997;1.0;0.637;0.998;0.999;0.999;0.998;0.998;0.998;0.625	D	0.98619	1.0666	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	423;423;423;423;423;423;423;423;423;423;423	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	T	423	ENSP00000394423:P423T;ENSP00000323534:P423T;ENSP00000338200:P423T;ENSP00000350534:P423T;ENSP00000346839:P423T;ENSP00000352696:P423T;ENSP00000265312:P423T;ENSP00000273049:P423T;ENSP00000349509:P423T;ENSP00000410422:P423T;ENSP00000415018:P423T;ENSP00000399538:P423T;ENSP00000348285:P423T;ENSP00000398907:P423T	ENSP00000265313:P423T	P	-	1	0	FN1	215996444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.882000	0.98803	0.655000	0.94253	CCC		0.463	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	57	1	0	0.0215528	1	0.0215528	6	57					T	216288199	G	T	216288199	3	4	346	1	0	0	0	0	1	0	0	0	5962	1232	43	4	6351	4	FN1	2	216288199	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	6	216288199	26911174	10	33155	147	2									
RARB	5915	broad.mit.edu	37	chr3	25470378	25470378	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcggcacactgctcaAtgtaggtttatttttttccc	7	11	1	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:25470378A>G	ENST00000404969.1	+	2	178				RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Splice_Site_p.Q52Q|RARB_ENST00000437042.2_Intron			P10826	RARB_HUMAN	retinoic acid receptor, beta						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)	ACACTGCTCAATGTAGGTTTA	0.433																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.e1+1		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						85	73	77					3																	25470378		2203	4300	6503	SO:0001627	intron_variant	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25470378A>G	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.179-32306A>G	3.37:g.25470378A>G						RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Intron|RARB_ENST00000437042.2_Intron	p.Q52_splice	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			1	577	+			0			Modulating.		P12891|Q00989|Q15298|Q9UN48	Splice_Site	SNP	ENST00000404969.1	37	c.157_splice																																																																																					0.433	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		6	37	0	0	0	1	0	6	37					G	25470378	A	G	25470378	1	3	346	0	1	0	0	0	0	0	0	0	13053	115	4	3		3	RARB	3	25470378	Intron	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		25470378	172552052	11	33156											
CELSR3	1951	broad.mit.edu	37	chr3	48678778	48678778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctctggcgctgggcccGgcccagagaagtctcatccc	11	16	2	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:48678778G>A	ENST00000164024.4	-	33	9284	c.9004C>T	c.(9004-9006)Cgg>Tgg	p.R3002W	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.R3007W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3002					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)		CGCTGGGCCCGGCCCAGAGAA	0.652																																						ENST00000544264.1																			0				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						c.(9019-9021)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							55	63	60					3																	48678778		2202	4300	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48678778G>A	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.9004C>T	3.37:g.48678778G>A	ENSP00000164024:p.Arg3002Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3002W	p.R3007W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	34	9299	-			3002					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9019C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509395	0.64522	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71103	-0.54;-0.53	5.12	2.21	0.28008	.	.	.	.	.	T	0.49012	0.1532	N	0.08118	0	0.30603	N	0.760309	P;P;D	0.56968	0.956;0.926;0.978	B;B;B	0.40410	0.292;0.153;0.328	T	0.51710	-0.8671	9	0.56958	D	0.05	.	11.1893	0.48675	0.0:0.1225:0.6423:0.2352	.	3007;3002;3100	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3002;3007	ENSP00000164024:R3002W;ENSP00000445694:R3007W	ENSP00000164024:R3002W	R	-	1	2	CELSR3	48653782	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	4.589000	0.61006	0.136000	0.18733	0.514000	0.50259	CGG		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		23	110	0	0	0	1	0	23	110					A	48678778	G	A	48678778	3	1	346	1	0	0	0	0	1	0	0	0	3223	1115	39	1	946	1	CELSR3	3	48678778	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	23208400	48678778	149343652	12	33157											
COPB2	9276	broad.mit.edu	37	chr3	139085462	139085462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttcttttggaatggtaGgaaggaccttatcagccatg	11	7	3	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:139085462G>A	ENST00000333188.5	-	15	2013	c.1832C>T	c.(1831-1833)cCt>cTt	p.P611L	COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	611					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGGAATGGTAGGAAGGACCTT	0.398																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1831-1833)cCt>cTt		coatomer protein complex, subunit beta 2 (beta prime)							73	74	74					3																	139085462		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085462G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1832C>T	3.37:g.139085462G>A	ENSP00000329419:p.Pro611Leu					COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	p.P611L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			15	2013	-			611					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1832C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294868	0.95546	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.64618	-0.11;-0.0	5.83	5.83	0.93111	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	H	0.94925	3.6	0.80722	D	1	P	0.48764	0.915	P	0.55749	0.783	D	0.87025	0.2131	10	0.72032	D	0.01	-18.407	20.1197	0.97955	0.0:0.0:1.0:0.0	.	611	P35606	COPB2_HUMAN	L	611;582	ENSP00000329419:P611L;ENSP00000422295:P582L	ENSP00000329419:P611L	P	-	2	0	COPB2	140568152	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.765000	0.98953	2.770000	0.95276	0.650000	0.86243	CCT		0.398	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		9	43	0	0	0	1	0	9	43					A	139085462	G	A	139085462	3	1	346	1	0	0	0	0	1	0	0	0	3729	1000	35	2	920	2	COPB2	3	139085462	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	90406684	139085462	58936968	13	33158											
BMPR1B	658	broad.mit.edu	37	chr4	96046194	96046194	+	Frame_Shift_Del	DEL	C	C	-													ttagaacaggatgaaacttaCattcctcctggagaatccct							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:96046194delC	ENST00000515059.1	+	8	790	c.507delC	c.(505-507)tacfs	p.Y169fs	BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	169					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|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 receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGAAACTTACATTCCTCCTG	0.408																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(505-507)tafs		bone morphogenetic protein receptor, type IB							83	82	82					4																	96046194		2203	4300	6503	SO:0001589	frameshift_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96046194delC	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.507delC	4.37:g.96046194delC	ENSP00000426617:p.Tyr169fs					BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs	p.Y169fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	8	790	+		Hepatocellular(203;0.114)	169					B2R953|B4DSV1|P78366	Frame_Shift_Del	DEL	ENST00000515059.1	37	c.507delC	CCDS3642.1																																																																																				0.408	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		15	50						15	50	---	---	---	---	-	96046194	C	-	96046194	7	5	346	1	0	1	0	1	0	0	0	0	1470	489	17	0	525	0	BMPR1B	4	96046194	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08		96046194	95108082	14	33159											
DNAJB14	79982	broad.mit.edu	37	chr4	100822294	100822294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggtatacttttgctgcaTactgcatatctgtttctgtt	7	9	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:100822294T>C	ENST00000442697.2	-	8	1185	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	344						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTTGCTGCATACTGCATATC	0.373																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1030-1032)tAt>tGt		DnaJ (Hsp40) homolog, subfamily B, member 14							82	78	79					4																	100822294		2203	4299	6502	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100822294T>C	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"Heat shock proteins / DNAJ (HSP40)"	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.1031A>G	4.37:g.100822294T>C	ENSP00000404381:p.Tyr344Cys						p.Y344C	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	8	1185	-			344					Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.1031A>G	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846835	0.71603	.	.	ENSG00000164031	ENST00000442697	T	0.45668	0.89	5.71	5.71	0.89125	Domain of unknown function DUF1977, DnaJ-like (1);	0.126578	0.56097	D	0.000036	T	0.59500	0.2198	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.63192	0.905;0.912	T	0.58451	-0.7634	10	0.40728	T	0.16	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	344;259	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	C	344	ENSP00000404381:Y344C	ENSP00000404381:Y344C	Y	-	2	0	DNAJB14	101041317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.198000	0.77823	2.171000	0.68590	0.533000	0.62120	TAT		0.373	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		7	53	0	0	0	1	0	7	53					C	100822294	T	C	100822294	3	2	346	1	0	0	0	0	1	0	0	0	4619	1406	49	3	112	3	DNAJB14	4	100822294	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	4776100	100822294	90331982	15	33160											
ELL2	22936	broad.mit.edu	37	chr5	95233957	95233961	+	Frame_Shift_Del	DEL	TGGAC	TGGAC	-													aaaatacctccactggaattTggactggagttatttagctt							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:95233957_95233961delTGGAC	ENST00000237853.4	-	8	1857_1861	c.1508_1512delGTCCA	c.(1507-1512)agtccafs	p.SP503fs	ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	503					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)		CACTGGAATTTGGACTGGAGTTATT	0.346																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(1507-1512)afs		elongation factor, RNA polymerase II, 2																																				SO:0001589	frameshift_variant	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95233957_95233961delTGGAC	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.1508_1512delGTCCA	5.37:g.95233957_95233961delTGGAC	ENSP00000237853:p.Ser503fs					ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs	p.SP503fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	8	1857_1861	-		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)	503					B4DNK7	Frame_Shift_Del	DEL	ENST00000237853.4	37	c.1508_1512delGTCCA	CCDS4080.1																																																																																				0.346	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		8	89						8	89	---	---	---	---	-	95233961	TGGAC	-	95233957	7	5	346	1	0	1	0	1	0	0	0	0	5063	1799	63	0	430	0	ELL2	5	95233957	Frame_Shift_Del	DEL	TGGAC	TCGA-HW-A5KK-01A-11D-A27K-08		95233957	85681303	16	33161											
ABLIM3	22885	broad.mit.edu	37	chr5	148617131	148617131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcattccagatacatgTccgacgagatgctggagaga	11	10	1	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:148617131T>C	ENST00000506113.1	+	10	1491	c.1009T>C	c.(1009-1011)Tcc>Ccc	p.S337P	ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000519549.1_3'UTR			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	337					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)			CAGATACATGTCCGACGAGAT	0.522																																						ENST00000506113.1																			0				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						c.(1009-1011)Tcc>Ccc		actin binding LIM protein family, member 3							140	141	141					5																	148617131		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148617131T>C	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.1009T>C	5.37:g.148617131T>C	ENSP00000425394:p.Ser337Pro					ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA	p.S337P			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1491	+			337					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1009T>C	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903908	0.72754	.	.	ENSG00000173210	ENST00000309868;ENST00000506113;ENST00000508983	T;T;T	0.55760	0.5;0.5;0.56	5.64	5.64	0.86602	.	0.058218	0.64402	D	0.000001	T	0.60353	0.2262	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.60480	-0.7255	10	0.39692	T	0.17	.	15.8736	0.79145	0.0:0.0:0.0:1.0	.	337	O94929	ABLM3_HUMAN	P	337	ENSP00000310309:S337P;ENSP00000425394:S337P;ENSP00000420855:S337P	ENSP00000310309:S337P	S	+	1	0	ABLIM3	148597324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.090000	0.64498	2.149000	0.67028	0.533000	0.62120	TCC		0.522	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		23	108	0	0	0	1	0	23	108					C	148617131	T	C	148617131	3	2	346	1	0	0	0	0	1	0	0	0	96	1667	58	3	1047	3	ABLIM3	5	148617131	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	53383174	148617131	32298129	17	33162											
ATP10B	23120	broad.mit.edu	37	chr5	160049524	160049524	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgctgtctgacaaGgtctccaaccacagggcagc	12	13	3	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:160049524G>T	ENST00000327245.5	-	14	2535	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	563					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)			TGTCTGACAAGGTCTCCAACC	0.488																																						ENST00000327245.5																			0				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						c.(1687-1689)acC>acA		ATPase, class V, type 10B							98	103	101					5																	160049524		1992	4165	6157	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160049524G>T	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.1689C>A	5.37:g.160049524G>T						CTC-348L5.1_ENST00000523598.1_RNA	p.T563T	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	2535	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	563					Q9H725	Silent	SNP	ENST00000327245.5	37	c.1689C>A	CCDS43394.1																																																																																				0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		17	78	1	0	1.02788e-11	1	1.11214e-11	17	78					T	160049524	G	T	160049524	2	4	346	1	0	0	0	0	0	0	0	1	1117	987	35	4		4	ATP10B	5	160049524	Silent	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	11432393	160049524	20865736	18	33163											
PKHD1	5314	broad.mit.edu	37	chr6	51897876	51897876	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaataactggatttaAggaagagacatatgtaaatg	9	4	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:51897876A>T	ENST00000371117.3	-	29	3591	c.3316T>A	c.(3316-3318)Tta>Ata	p.L1106I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1106					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)					ACTGGATTTAAGGAAGAGACA	0.383																																						ENST00000371117.3																			0				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						c.(3316-3318)Tta>Ata		polycystic kidney and hepatic disease 1 (autosomal recessive)							123	119	120					6																	51897876		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51897876A>T	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.3316T>A	6.37:g.51897876A>T	ENSP00000360158:p.Leu1106Ile					PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			29	3591	-	Lung NSC(77;0.0605)		1106					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3316T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175245	0.78564	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88664	-2.2;-2.41	5.99	5.99	0.97316	.	0.101514	0.43747	D	0.000539	D	0.89698	0.6790	M	0.68952	2.095	0.33096	D	0.538537	D;D	0.65815	0.995;0.976	P;P	0.59546	0.859;0.7	D	0.87786	0.2615	10	0.22109	T	0.4	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	1106;1106	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1106	ENSP00000360158:L1106I;ENSP00000341097:L1106I	ENSP00000341097:L1106I	L	-	1	2	PKHD1	52005835	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.770000	0.47662	2.292000	0.77174	0.482000	0.46254	TTA		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	55	0	0	0	1	0	6	55					T	51897876	A	T	51897876	3	4	346	1	0	0	0	0	1	0	0	0	11971	69	3	5	9103	5	PKHD1	6	51897876	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		51897876	119217191	19	33164											
MAP7	9053	broad.mit.edu	37	chr6	136710581	136710581	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccaacctcttctTccgctcttccaggtgcttct	5	18	4	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:136710581T>A	ENST00000354570.3	-	4	729	c.319A>T	c.(319-321)Aag>Tag	p.K107*	MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	107					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACCTCTTCTTCCGCTCTTCC	0.542																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(319-321)Aag>Tag		microtubule-associated protein 7							121	116	118					6																	136710581		2203	4300	6503	SO:0001587	stop_gained	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136710581T>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.319A>T	6.37:g.136710581T>A	ENSP00000346581:p.Lys107*					MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*|MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*	p.K107*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	4	729	-	Colorectal(23;0.24)		107					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Nonsense_Mutation	SNP	ENST00000354570.3	37	c.319A>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	36	5.714804	0.96830	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5132	15.1529	0.72717	0.0:0.0:0.0:1.0	.	.	.	.	X	107;129;92;129	.	ENSP00000346581:K107X	K	-	1	0	MAP7	136752274	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.631000	0.61304	2.053000	0.61076	0.455000	0.32223	AAG		0.542	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		22	128	0	0	0	1	0	22	128					A	136710581	T	A	136710581	4	1	346	1	0	0	0	0	0	1	0	0	9266	1792	62	5	1990	5	MAP7	6	136710581	Nonsense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	84812705	136710581	34404486	20	33165											
SYNE1	23345	broad.mit.edu	37	chr6	152651648	152651648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccgcctccccaaggccCgccacctcgtccagaatggc	8	21	0	1	rs200419328	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:152651648C>T	ENST00000367255.5	-	78	14773	c.14172G>A	c.(14170-14172)gcG>gcA	p.A4724A	SYNE1_ENST00000341594.5_Silent_p.A4471A|SYNE1_ENST00000423061.1_Silent_p.A4653A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000265368.4_Silent_p.A4724A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4724					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)		CCCCAAGGCCCGCCACCTCGT	0.552										HNSCC(10;0.0054)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		20202	0.0		0.001	False		,,,				2504	0.0					ENST00000367255.5																			0				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						c.(14170-14172)gcG>gcA		spectrin repeat containing, nuclear envelope 1							51	58	56					6																	152651648		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651648C>T	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.14172G>A	6.37:g.152651648C>T		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.A4653A|SYNE1_ENST00000265368.4_Silent_p.A4724A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000341594.5_Silent_p.A4471A	p.A4724A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14773	-		Ovarian(120;0.0955)	4724					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14172G>A	CCDS5236.2																																																																																				0.552	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	57	0	0	0	1	0	10	57					T	152651648	C	T	152651648	2	4	346	1	0	0	0	0	0	0	0	1	15442	639	23	1		1	SYNE1	6	152651648	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15941067	152651648	18463419	21	33166											
TCP10	6953	broad.mit.edu	37	chr6	167786722	167786722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaattcactcgggaaacCggaccgccggcagtcatctg	12	12	3	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:167786722C>T	ENST00000397829.4	-	8	1083	c.916G>A	c.(916-918)Ggt>Agt	p.G306S	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	333						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTCGGGAAACCGGACCGCCGG	0.557																																						ENST00000397829.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(916-918)Ggt>Agt		t-complex 10							104	105	105					6																	167786722		1861	4101	5962	SO:0001583	missense	6953					cytosol		g.chr6:167786722C>T	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.916G>A	6.37:g.167786722C>T	ENSP00000380929:p.Gly306Ser					TCP10_ENST00000366827.2_Intron	p.G306S	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	8	1083	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	333					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.916G>A	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	c	3.960	-0.010476	0.07727	.	.	ENSG00000203690	ENST00000397829	T	0.27104	1.69	1.83	-3.66	0.04489	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	9	0.72032	D	0.01	.	1.4273	0.02326	0.1691:0.3698:0.115:0.3462	.	333	Q12799	TCP10_HUMAN	S	306	ENSP00000380929:G306S	ENSP00000380929:G306S	G	-	1	0	TCP10	167706712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.389000	0.00488	-4.390000	0.00052	-4.905000	0.00002	GGT		0.557	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		6	69	0	0	0	1	0	6	69					T	167786722	C	T	167786722	3	4	346	1	0	0	0	0	1	0	0	0	15707	652	23	1	68	1	TCP10	6	167786722	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15135074	167786722	3328345	22	33167											
CDK13	8621	broad.mit.edu	37	chr7	40102644	40102644	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatccttggcgaactcttcActaaaaaacctatatttcaa	4	10	3	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:40102644A>G	ENST00000181839.4	+	9	3330	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	CDK13_ENST00000340829.5_Missense_Mutation_p.T909A|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CGAACTCTTCACTAAAAAACC	0.333																																						ENST00000181839.4																			0				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						c.(2725-2727)Act>Gct		cyclin-dependent kinase 13							123	126	125					7																	40102644		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102644A>G	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.2725A>G	7.37:g.40102644A>G	ENSP00000181839:p.Thr909Ala					CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T909A	p.T909A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			9	3330	+			909			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2725A>G	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331497	0.60853	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.48201	0.82;0.82	5.62	5.62	0.85841	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	0.46870	0.1415	N	0.25647	0.755	0.58432	D	0.999996	B;D;P	0.61697	0.043;0.99;0.592	B;P;P	0.51945	0.037;0.685;0.475	T	0.35599	-0.9782	8	.	.	.	-13.5534	16.1325	0.81454	1.0:0.0:0.0:0.0	.	295;909;909	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	A	909	ENSP00000181839:T909A;ENSP00000340557:T909A	.	T	+	1	0	CDK13	40069169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.698000	0.91311	2.272000	0.75746	0.460000	0.39030	ACT		0.333	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		14	66	0	0	0	1	0	14	66					G	40102644	A	G	40102644	3	3	346	1	0	0	0	0	1	0	0	0	3129	159	6	3	2759	3	CDK13	7	40102644	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		40102644	119036019	23	33168											
POM121L12	285877	broad.mit.edu	37	chr7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcccctggacagagagccCgccccgcaggccgccccgcc	12	21	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:53103839C>T	ENST00000408890.4	+	1	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(475-477)Cgc>Tgc		POM121 transmembrane nucleoporin-like 12							13	16	15					7																	53103839		1859	4070	5929	SO:0001583	missense	285877							g.chr7:53103839C>T		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.475C>T	7.37:g.53103839C>T	ENSP00000386133:p.Arg159Cys						p.R159C	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	491	+			159					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.475C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575802	0.13623	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	1.81	0.851	0.18989	.	.	.	.	.	T	0.14141	0.0342	N	0.01352	-0.895	0.09310	N	1	D	0.76494	0.999	P	0.56434	0.798	T	0.10520	-1.0626	9	0.46703	T	0.11	.	5.2207	0.15368	0.342:0.658:0.0:0.0	.	159	Q8N7R1	P1L12_HUMAN	C	159	ENSP00000386133:R159C	ENSP00000386133:R159C	R	+	1	0	POM121L12	53071333	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.333000	0.07894	0.312000	0.23038	0.555000	0.69702	CGC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	45	0	0	0	1	0	10	45					T	53103839	C	T	53103839	3	4	346	1	0	0	0	0	1	0	0	0	12241	652	23	1	477	1	POM121L12	7	53103839	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	13001195	53103839	106034824	24	33169											
VDAC3	7419	broad.mit.edu	37	chr8	42259491	42259491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcacagaataatttcgCcctgggttacaaggctgcgg	11	10	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:42259491C>T	ENST00000022615.4	+	7	577	c.509C>T	c.(508-510)gCc>gTc	p.A170V	VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V|VDAC3_ENST00000392935.3_Missense_Mutation_p.A171V|VDAC3_ENST00000522572.1_Intron			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	170					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|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;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATAATTTCGCCCTGGGTTAC	0.463																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(511-513)gCc>gTc		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						72	69	70					8																	42259491		2203	4300	6503	SO:0001583	missense	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259491C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"Voltage-dependent anion channels"	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.509C>T	8.37:g.42259491C>T	ENSP00000022615:p.Ala170Val					VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.A170V	p.A171V	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	655	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|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)	170					Q9UIS0	Missense_Mutation	SNP	ENST00000022615.4	37	c.512C>T	CCDS6131.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106547	0.94292	.	.	ENSG00000078668	ENST00000392935;ENST00000521158;ENST00000022615	T;T;T	0.48201	0.82;0.82;0.82	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.84156	2.68	0.80722	D	1	P	0.45396	0.857	B	0.43018	0.405	T	0.62506	-0.6840	9	.	.	.	-5.7761	17.6115	0.88055	0.0:1.0:0.0:0.0	.	170	Q9Y277	VDAC3_HUMAN	V	171;171;170	ENSP00000442811:A171V;ENSP00000428845:A171V;ENSP00000022615:A170V	.	A	+	2	0	VDAC3	42378648	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.776000	0.85560	2.832000	0.97577	0.650000	0.86243	GCC		0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			8	55	0	0	0	1	0	8	55					T	42259491	C	T	42259491	3	4	346	1	0	0	0	0	1	0	0	0	17145	739	26	2	530	2	VDAC3	8	42259491	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		42259491	104104531	25	33170											
GSDMD	79792	broad.mit.edu	37	chr8	144642132	144642132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctggcagactctgctcCatgagaggtgggcccgaaga	13	12	1	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144642132C>T	ENST00000526406.1	+	6	1286	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y|GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	135					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCTGCTCCATGAGAGGTG	0.537																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(403-405)Cat>Tat		gasdermin D							26	29	28					8																	144642132		2199	4298	6497	SO:0001583	missense	79792							g.chr8:144642132C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.403C>T	8.37:g.144642132C>T	ENSP00000433209:p.His135Tyr					GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y|GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y	p.H135Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			6	1286	+			135					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.403C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424829	0.25639	.	.	ENSG00000104518	ENST00000526406;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000534018;ENST00000533888	T;T;T;T;T;T	0.33865	1.85;2.74;1.83;1.85;1.39;2.52	4.7	0.176	0.15049	.	2.080600	0.02011	N	0.046970	T	0.32496	0.0831	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.46457	0.878;0.866;0.866;0.838	B;B;B;B	0.41894	0.313;0.369;0.369;0.253	T	0.35325	-0.9793	10	0.66056	D	0.02	0.6255	7.5173	0.27608	0.5393:0.3213:0.1394:0.0	.	165;135;135;183	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	Y	135;135;183;135;151;135	ENSP00000433209:H135Y;ENSP00000434386:H135Y;ENSP00000433958:H183Y;ENSP00000262580:H135Y;ENSP00000436684:H151Y;ENSP00000437065:H135Y	ENSP00000262580:H135Y	H	+	1	0	GSDMD	144713275	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.644000	0.05415	0.160000	0.19432	0.543000	0.68304	CAT		0.537	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		8	50	0	0	0	1	0	8	50					T	144642132	C	T	144642132	3	4	346	1	0	0	0	0	1	0	0	0	6819	594	21	2	409	2	GSDMD	8	144642132	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	102382641	144642132	1721890	26	33171											
GSDMD	79792	broad.mit.edu	37	chr8	144645068	144645068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaggactgagccaggagccCcactagcctgtgcccgggca	13	15	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144645068C>A	ENST00000526406.1	+	14	2332	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	GSDMD_ENST00000533063.1_Silent_p.P531P|GSDMD_ENST00000262580.4_Silent_p.P483P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	483				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCAGGAGCCCCACTAGCCTG	0.667																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1447-1449)ccC>ccA		gasdermin D							23	23	23					8																	144645068		2197	4293	6490	SO:0001819	synonymous_variant	79792							g.chr8:144645068C>A	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"gasdermin domain containing 1"	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1449C>A	8.37:g.144645068C>A						GSDMD_ENST00000533063.1_Silent_p.P531P|GSDMD_ENST00000262580.4_Silent_p.P483P	p.P483P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			14	2332	+			483	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.1449C>A	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	7.543	0.661029	0.14645	.	.	ENSG00000104518	ENST00000525208	.	.	.	4.9	-1.74	0.08056	.	2.452250	0.01172	N	0.006884	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05321	-1.0892	5	.	.	.	-1.9863	2.8545	0.05568	0.1304:0.3445:0.3623:0.1628	.	.	.	.	H	176	.	.	P	+	2	0	GSDMD	144716211	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.097000	0.11042	-0.432000	0.07297	0.643000	0.83706	CCC		0.667	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		5	29	1	0	0.00116845	1	0.00122409	5	29					A	144645068	C	A	144645068	2	1	346	1	0	0	0	0	0	0	0	1	6819	610	22	4		4	GSDMD	8	144645068	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	2936	144645068	1718954	27	33172											
SLC24A2	25769	broad.mit.edu	37	chr9	19786146	19786146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caatgtagaaagacacatctCgaaagagcggccaccatgtc	9	11	1	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:19786146C>G	ENST00000341998.2	-	1	780	c.719G>C	c.(718-720)cGa>cCa	p.R240P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGACACATCTCGAAAGAGCGG	0.393																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(718-720)cGa>cCa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							92	87	89					9																	19786146		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786146C>G	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.719G>C	9.37:g.19786146C>G	ENSP00000344801:p.Arg240Pro					SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	780	-			240					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.719G>C	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271938	0.80469	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.64991	-0.13;-0.13	5.91	5.91	0.95273	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93057	0.6471	9	.	.	.	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	240;240	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	P	240	ENSP00000344801:R240P;ENSP00000286344:R240P	.	R	-	2	0	SLC24A2	19776146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CGA		0.393	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		10	82	0	0	0	1	0	10	82					G	19786146	C	G	19786146	3	3	346	1	0	0	0	0	1	0	0	0	14466	884	31	4	1306	4	SLC24A2	9	19786146	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19786146	121427285	28	33173											
GLE1	2733	broad.mit.edu	37	chr9	131298722	131298722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgatccgtctctacgctGctatcatccagctccggtgg	11	13	2	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:131298722G>A	ENST00000309971.4	+	12	1841	c.1735G>A	c.(1735-1737)Gct>Act	p.A579T	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	579					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCTACGCTGCTATCATCCA	0.468																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1735-1737)Gct>Act		GLE1 RNA export mediator							114	93	100					9																	131298722		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131298722G>A	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1735G>A	9.37:g.131298722G>A	ENSP00000308622:p.Ala579Thr					GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T|RP11-216B9.6_ENST00000434999.1_RNA	p.A579T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			12	1841	+			579					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.1735G>A	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804628	0.96967	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.79033	-1.23;-1.23;-1.23	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91638	0.5324	10	0.66056	D	0.02	-19.2754	19.087	0.93206	0.0:0.0:1.0:0.0	.	579;579	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	T	579;579;325	ENSP00000308622:A579T;ENSP00000361856:A579T;ENSP00000438670:A325T	ENSP00000308622:A579T	A	+	1	0	GLE1	130338543	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	9.790000	0.99075	2.764000	0.94973	0.650000	0.86243	GCT		0.468	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		4	55	0	0	0	1	0	4	55					A	131298722	G	A	131298722	3	1	346	1	0	0	0	0	1	0	0	0	6435	1319	46	2	1781	2	GLE1	9	131298722	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	111512576	131298722	9914709	29	33174											
NANOS1	340719	broad.mit.edu	37	chr10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-													ggccgcccgactacgacgagGacgacgacgacgacagcgac							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788																																						ENST00000425699.1																			0				lung(1)	1						c.(322-324)del		nanos homolog 1 (Drosophila)				3,1375		0,3,686						-0.2	1			2	36,3180		2,32,1574	no	coding	NANOS1	NM_199461.2		2,35,2260	A1A1,A1R,RR		1.1194,0.2177,0.8489				39,4555				SO:0001651	inframe_deletion	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120789635_120789637delGAC	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.322_324delGAC	10.37:g.120789644_120789646delGAC	ENSP00000393275:p.Asp112del						p.D112del	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	1	408_410	+		Lung NSC(174;0.094)|all_lung(145;0.123)	112						In_Frame_Del	DEL	ENST00000425699.1	37	c.322_324delGAC	CCDS7607.1																																																																																				0.788	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			2	4						2	4	---	---	---	---	-	120789637	GAC	-	120789635	7	5	346	1	0	1	0	1	0	0	0	0	10151	1174	41	0	324	0	NANOS1	10	120789635	In_Frame_Del	DEL	GAC	TCGA-HW-A5KK-01A-11D-A27K-08		120789635	14745112	30	33175											
NAV2	89797	broad.mit.edu	37	chr11	19970369	19970369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggctccaagcaggagaCgccccctcaatgggcaatgg	12	15	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:19970369C>T	ENST00000396087.3	+	11	2556	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	NAV2_ENST00000396085.1_Silent_p.D796D|NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000527559.2_Silent_p.D748D|NAV2_ENST00000360655.4_Silent_p.D732D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	819					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.D819D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617																																						ENST00000396085.1																			1	Substitution - coding silent(1)	p.D819D(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2386-2388)gaC>gaT		neuron navigator 2							64	56	59					11																	19970369		2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19970369C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2457C>T	11.37:g.19970369C>T						NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000396087.3_Silent_p.D819D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000360655.4_Silent_p.D732D|NAV2_ENST00000527559.2_Silent_p.D748D	p.D796D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			10	2749	+			819					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.2388C>T	CCDS58126.1																																																																																				0.617	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	73	0	0	0	1	0	11	73					T	19970369	C	T	19970369	2	4	346	1	0	0	0	0	0	0	0	1	10184	535	19	1		1	NAV2	11	19970369	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19970369	115036147	31	33176											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332501	130332501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttttggcgtgggctcCaagccctgtccttacatgca	11	13	0	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:130332501C>T	ENST00000299164.2	+	4	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	456	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1366-1368)tcC>tcT		ADAM metallopeptidase with thrombospondin type 1 motif, 15							76	66	69					11																	130332501		2201	4296	6497	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332501C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1368C>T	11.37:g.130332501C>T							p.S456S	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1368	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	456			Disintegrin.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.1368C>T	CCDS8488.1																																																																																				0.647	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		17	121	0	0	0	1	0	17	121					T	130332501	C	T	130332501	2	4	346	1	0	0	0	0	0	0	0	1	260	581	21	2		2	ADAMTS15	11	130332501	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	110362132	130332501	4674015	32	33177											
PRB3	5544	broad.mit.edu	37	chr12	11420209	11420209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccctggggctttccagcggGaggtggcagaggctgctggg	19	10	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:11420209G>A	ENST00000381842.3	-	5	884	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PRB3_ENST00000279573.7_3'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.P283S|PRB3_ENST00000440870.3_5'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	283	Pro-rich.				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)			TTTCCAGCGGGAGGTGGCAGA	0.622																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							99	115	110					12																	11420209		2200	4300	6500	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420209G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.847C>T	12.37:g.11420209G>A	ENSP00000371264:p.Pro283Ser					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	884	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000381842.3	37			.	.	.	.	.	.	.	.	.	.	.	1.560	-0.536924	0.04082	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.33216	1.42;1.42	1.14	1.14	0.20703	.	2.103270	0.03947	U	0.287895	T	0.27169	0.0666	.	.	.	0.09310	N	1	D	0.55172	0.97	P	0.46275	0.51	T	0.23583	-1.0184	9	0.27082	T	0.32	.	5.7166	0.17964	0.0:0.0:1.0:0.0	.	283	Q04118	PRB3_HUMAN	S	283	ENSP00000371264:P283S;ENSP00000442626:P283S	ENSP00000371264:P283S	P	-	1	0	PRB3	11311476	0.998000	0.40836	0.002000	0.10522	0.004000	0.04260	0.923000	0.28757	0.948000	0.37687	0.456000	0.33151	CCC		0.622	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006249		36	208	0	0	0	1	0	36	208					A	11420209	G	A	11420209	3	1	346	1	0	0	0	0	1	0	0	0	12444	1174	41	2	86	2	PRB3	12	11420209	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		11420209	122431686	33	33178											
SPRYD3	84926	broad.mit.edu	37	chr12	53468957	53468957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtagtactgagggaccAgccccacagcaatggtgccc	12	13	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:53468957A>C	ENST00000301463.4	-	4	379	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	98	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTGAGGGACCAGCCCCACAGC	0.562																																						ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(292-294)cTg>cGg		SPRY domain containing 3							96	94	94					12																	53468957		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53468957A>C	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.293T>G	12.37:g.53468957A>C	ENSP00000301463:p.Leu98Arg					SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	p.L98R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			4	379	-			98			B30.2/SPRY.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.293T>G	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379048	0.82682	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.62364	0.03;0.03	5.08	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.077082	0.49916	D	0.000133	T	0.80138	0.4568	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83469	0.0058	10	0.87932	D	0	.	13.136	0.59409	1.0:0.0:0.0:0.0	.	98	Q8NCJ5	SPRY3_HUMAN	R	98;135	ENSP00000301463:L98R;ENSP00000449452:L135R	ENSP00000301463:L98R	L	-	2	0	SPRYD3	51755224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.314000	0.89980	2.271000	0.75665	0.459000	0.35465	CTG		0.562	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		27	167	0	0	0	1	0	27	167					C	53468957	A	C	53468957	3	2	346	1	0	0	0	0	1	0	0	0	15108	188	7	5	1067	5	SPRYD3	12	53468957	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	42048748	53468957	80382938	34	33179											
MGAT4C	25834	broad.mit.edu	37	chr12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggaccatggcatcacGccaggaagaattaaagtctg	10	10	2	1	rs566418071		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:86374059G>A	ENST00000604798.1	-	8	1649	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16782	0.0		0.0	False		,,,				2504	0.0					ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(445-447)Cgt>Tgt		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							81	80	80					12																	86374059		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374059G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.445C>T	12.37:g.86374059G>A	ENSP00000474896:p.Arg149Cys					MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C	p.R149C			Q9UBM8	MGT4C_HUMAN			8	1649	-			149					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.445C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940816	0.18281	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	4.59	0.56863	.	0.169518	0.52532	D	0.000061	T	0.62208	0.2409	N	0.02916	-0.46	0.58432	D	0.999999	B;B	0.14012	0.009;0.005	B;B	0.08055	0.003;0.003	T	0.59225	-0.7494	10	0.34782	T	0.22	-17.5819	3.6286	0.08123	0.3462:0.0:0.6538:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	C	149;178;149;149;149;149;149	ENSP00000331664:R149C;ENSP00000376900:R178C;ENSP00000449022:R149C;ENSP00000446647:R149C;ENSP00000447253:R149C;ENSP00000449172:R149C	ENSP00000331664:R149C	R	-	1	0	MGAT4C	84898190	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.687000	0.84139	2.612000	0.88384	0.655000	0.94253	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		12	72	0	0	0	1	0	12	72					A	86374059	G	A	86374059	3	1	346	1	0	0	0	0	1	0	0	0	9547	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	32905102	86374059	47477836	35	33180											
NCOR2	9612	broad.mit.edu	37	chr12	124829298	124829298	+	Frame_Shift_Del	DEL	C	C	-													gggcgccgcgcgcaatggagCcccccgagctgctggcggtc							TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:124829298delC	ENST00000405201.1	-	32	4559	c.4559delG	c.(4558-4560)ggcfs	p.G1520fs	NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.G1527fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1528					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)		CGCAATGGAGCCCCCCGAGCT	0.706																																						ENST00000356219.3																			0				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						c.(4579-4581)gcfs		nuclear receptor corepressor 2							5	7	6					12																	124829298		1722	3653	5375	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124829298delC	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.4559delG	12.37:g.124829298delC	ENSP00000384018:p.Gly1520fs					NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.G1520fs	p.G1527fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		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)	33	4735	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1528					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.4580delG	CCDS41858.2																																																																																				0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	4						2	4	---	---	---	---	-	124829298	C	-	124829298	7	5	346	1	0	1	0	1	0	0	0	0	10236	739	26	0	3049	0	NCOR2	12	124829298	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08	38455239	124829298	9022597	36	33181											
OR11H12	440153	broad.mit.edu	37	chr14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaactggtcatactgtgctGggtttgtggatttctgtggt	13	6	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164						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(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(490-492)tGg>tTg		olfactory receptor, family 11, subfamily H, member 12							149	163	159					14																	19378084		2201	4294	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378084G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.491G>T	14.37:g.19378084G>T	ENSP00000449002:p.Trp164Leu						p.W164L	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	563	+	all_cancers(95;0.00108)		164						Missense_Mutation	SNP	ENST00000550708.1	37	c.491G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.770733	0.31320	.	.	ENSG00000257115	ENST00000550708	T	0.58210	0.35	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002208	T	0.68924	0.3054	M	0.85630	2.765	0.26265	N	0.978514	D	0.89917	1.0	D	0.97110	1.0	T	0.74352	-0.3693	9	0.66056	D	0.02	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	164	B2RN74	O11HC_HUMAN	L	164	ENSP00000449002:W164L	ENSP00000449002:W164L	W	+	2	0	CR383656.1	18448084	0.134000	0.22483	0.963000	0.40424	0.194000	0.23727	1.020000	0.30027	0.619000	0.30197	0.064000	0.15345	TGG		0.488	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		9	580	1	0	0.00621372	1	0.00640789	9	580					T	19378084	G	T	19378084	3	4	346	1	0	0	0	0	1	0	0	0	10927	1357	47	4	493	4	OR11H12	14	19378084	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		19378084	87971456	37	33182											
SPTB	6710	broad.mit.edu	37	chr14	65239642	65239642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatcgccccggtctcccGggcaaagtcccggaacttgt	10	17	1	0	rs149727354	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:65239642G>A	ENST00000389721.5	-	25	5241	c.5209C>T	c.(5209-5211)Cgg>Tgg	p.R1737W	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389722.3_Missense_Mutation_p.R1737W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					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)		CCGGTCTCCCGGGCAAAGTCC	0.622													G|||	3	0.000599042	0.0	0.0	5008	,	,		18550	0.003		0.0	False		,,,				2504	0.0					ENST00000389722.3																			0				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						c.(5209-5211)Cgg>Tgg		spectrin, beta, erythrocytic		G	TRP/ARG,TRP/ARG	0,4404		0,0,2202	20	22	22		5209,5209	5.2	1	14	dbSNP_134	22	2,8594		0,2,4296	yes	missense,missense	SPTB	NM_000347.5,NM_001024858.2	101,101	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1737/2138,1737/2329	65239642	2,12998	2202	4298	6500	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239642G>A		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.5209C>T	14.37:g.65239642G>A	ENSP00000374371:p.Arg1737Trp					SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W	p.R1737W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5262	-		all_lung(585;4.15e-09)	1737					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5209C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129081	0.94473	0.0	2.33E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.997	T	0.81004	-0.1129	10	0.87932	D	0	.	17.8889	0.88865	0.0:0.0:1.0:0.0	.	521;1737;1741	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	W	1741;1737;521;402;1737;1737;1737;1737	ENSP00000374372:R1737W;ENSP00000451324:R402W;ENSP00000451752:R1737W;ENSP00000374371:R1737W;ENSP00000443882:R1737W;ENSP00000374370:R1737W	ENSP00000334218:R521W	R	-	1	2	SPTB	64309395	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.029000	0.88807	2.595000	0.87683	0.561000	0.74099	CGG		0.622	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	42	0	0	0	1	0	5	42					A	65239642	G	A	65239642	3	1	346	1	0	0	0	0	1	0	0	0	15117	1115	39	1	1890	1	SPTB	14	65239642	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	45861558	65239642	42109898	38	33183											
FHOD1	29109	broad.mit.edu	37	chr16	67268290	67268290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcctcattgggcatggCcccggcaagtgtctctgccc	11	17	2	0	rs553913184		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr16:67268290C>T	ENST00000258201.4	-	12	1652	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	469					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)		TTGGGCATGGCCCCGGCAAGT	0.642													C|||	0	0.0	0.0	0.0	5008	,	,		15746	0.0		0.0	False		,,,				2504	0.0					ENST00000258201.4																			0				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						c.(1405-1407)Gcc>Acc		formin homology 2 domain containing 1							26	28	27					16																	67268290		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67268290C>T	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.1405G>A	16.37:g.67268290C>T	ENSP00000258201:p.Ala469Thr					FHOD1_ENST00000567687.1_Missense_Mutation_p.A48T	p.A469T	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	12	1652	-		Ovarian(137;0.0563)	469					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.1405G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829536	0.32329	.	.	ENSG00000135723	ENST00000258201	T	0.22945	1.93	5.18	4.23	0.50019	.	0.528953	0.20682	N	0.087625	T	0.15522	0.0374	N	0.24115	0.695	0.09310	N	1	B;B	0.27882	0.192;0.001	B;B	0.23716	0.048;0.002	T	0.19943	-1.0290	10	0.15499	T	0.54	.	11.0852	0.48082	0.0:0.9124:0.0:0.0876	.	48;469	B4DVN5;Q9Y613	.;FHOD1_HUMAN	T	469	ENSP00000258201:A469T	ENSP00000258201:A469T	A	-	1	0	FHOD1	65825791	0.209000	0.23505	0.037000	0.18230	0.061000	0.15899	3.025000	0.49681	1.182000	0.42928	0.455000	0.32223	GCC		0.642	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			3	31	0	0	0	1	0	3	31					T	67268290	C	T	67268290	3	4	346	1	0	0	0	0	1	0	0	0	5882	739	26	2	2133	2	FHOD1	16	67268290	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		67268290	23086463	39	33184											
SLC13A2	9058	broad.mit.edu	37	chr17	26817446	26817446	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactccagggtcttcccgcCgctcagccatgtctccacct	8	18	3	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:26817446C>T	ENST00000314669.5	+	3	651				SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000444914.3_Missense_Mutation_p.P118L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						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)			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)	GTCTTCCCGCCGCTCAGCCAT	0.612																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(352-354)cCg>cTg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						103	106	105					17																	26817446		2203	4300	6503	SO:0001627	intron_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817446C>T	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.232-26C>T	17.37:g.26817446C>T						SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_Intron	p.P118L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	3	773	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		69					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.353C>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	0.155	-1.087478	0.01873	.	.	ENSG00000007216	ENST00000444914	T	0.65178	-0.14	4.54	1.03	0.20045	.	.	.	.	.	T	0.26666	0.0652	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29941	-0.9995	9	0.02654	T	1	.	4.8283	0.13427	0.1884:0.568:0.0:0.2437	.	118	E7ETH5	.	L	118	ENSP00000392411:P118L	ENSP00000392411:P118L	P	+	2	0	SLC13A2	23841573	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	0.021000	0.13489	0.327000	0.23409	-0.143000	0.13931	CCG		0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		36	194	0	0	0	1	0	36	194					T	26817446	C	T	26817446	1	4	346	0	1	0	0	0	0	0	0	0	14392	652	23	1		1	SLC13A2	17	26817446	Intron	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26817446	54377764	40	33185											
LRRC37B	114659	broad.mit.edu	37	chr17	30349672	30349672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcgcaggattcattgGtgcagtctgaaactgcacca	9	10	3	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:30349672G>A	ENST00000341671.7	+	1	1512	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000327564.7_Missense_Mutation_p.V530M|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	503						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGATTCATTGGTGCAGTCTGA	0.507																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1588-1590)Gtg>Atg		leucine rich repeat containing 37B							61	61	61					17																	30349672		2200	4296	6496	SO:0001583	missense	114659					integral to membrane		g.chr17:30349672G>A	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1507G>A	17.37:g.30349672G>A	ENSP00000340519:p.Val503Met					LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M|LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V503M	p.V530M			Q96QE4	LR37B_HUMAN			1	1649	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	503					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1588G>A	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.797	0.932033	0.18131	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.68025	-0.25;-0.3;0.81;-0.28	1.73	-3.46	0.04767	.	.	.	.	.	T	0.67924	0.2945	M	0.69823	2.125	0.09310	N	1	D;P	0.61080	0.989;0.712	P;B	0.56700	0.804;0.086	T	0.59440	-0.7454	9	0.51188	T	0.08	.	1.1157	0.01714	0.2111:0.3347:0.2871:0.1671	.	503;503	Q17RC9;Q96QE4	.;LR37B_HUMAN	M	421;530;503;503	ENSP00000443345:V421M;ENSP00000332536:V530M;ENSP00000378202:V503M;ENSP00000340519:V503M	ENSP00000332536:V530M	V	+	1	0	LRRC37B	27373785	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	-0.184000	0.09698	-2.680000	0.00409	0.186000	0.17326	GTG		0.507	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		23	111	0	0	0	1	0	23	111					A	30349672	G	A	30349672	3	1	346	1	0	0	0	0	1	0	0	0	8994	1261	44	2	1509	2	LRRC37B	17	30349672	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	3532226	30349672	50845538	41	33186											
ZNF521	25925	broad.mit.edu	37	chr18	22805969	22805969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacttagcaccacatTgattacagatatattctcca	5	9	1	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:22805969T>G	ENST00000361524.3	-	4	2061	c.1913A>C	c.(1912-1914)cAa>cCa	p.Q638P	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	638					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)					AGCACCACATTGATTACAGAT	0.478			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(1912-1914)cAa>cCa		zinc finger protein 521							150	138	142					18																	22805969		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805969T>G	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.1913A>C	18.37:g.22805969T>G	ENSP00000354794:p.Gln638Pro					ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P	p.Q638P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2061	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		638					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1913A>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	7.203	0.593822	0.13875	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.76839	-1.05;-1.05	5.86	4.68	0.58851	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.058358	0.64402	D	0.000001	D	0.88347	0.6412	M	0.84511	2.7	0.51482	D	0.999929	D	0.76494	0.999	D	0.83275	0.996	D	0.89373	0.3676	10	0.72032	D	0.01	-30.1044	12.5625	0.56291	0.1248:0.0:0.0:0.8752	.	638	Q96K83	ZN521_HUMAN	P	638;672;638	ENSP00000354794:Q638P;ENSP00000382352:Q638P	ENSP00000354794:Q638P	Q	-	2	0	ZNF521	21059967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	1.116000	0.41820	0.528000	0.53228	CAA		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		23	136	0	0	0	1	0	23	136					G	22805969	T	G	22805969	3	3	346	1	0	0	0	0	1	0	0	0	17962	1812	63	5	2042	5	ZNF521	18	22805969	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		22805969	55271279	42	33187											
SERPINB2	5055	broad.mit.edu	37	chr18	61569789	61569789	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattgccgatgtgtccaCtggcttggagctggtaagac	13	8	0	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:61569789C>G	ENST00000299502.4	+	7	910	c.830C>G	c.(829-831)aCt>aGt	p.T277S	SERPINB2_ENST00000457692.1_Missense_Mutation_p.T277S	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(829-831)aCt>aGt		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						149	135	140					18																	61569789		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61569789C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.830C>G	18.37:g.61569789C>G	ENSP00000299502:p.Thr277Ser					SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277S	p.T277S	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			8	1163	+		Esophageal squamous(42;0.131)	277					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.830C>G	CCDS11989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278463|3.278463	0.59758|0.59758	.|.	.|.	ENSG00000242550|ENSG00000197632	ENST00000397996;ENST00000418725|ENST00000299502;ENST00000457692	.|D;D	.|0.84070	.|-1.8;-1.8	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Serpin domain (3);	.|0.048615	.|0.85682	.|D	.|0.000000	D|D	0.87466|0.87466	0.6184|0.6184	L|L	0.50847|0.50847	1.595|1.595	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.80764	.|0.983;0.994	D|D	0.87626|0.87626	0.2513|0.2513	5|10	.|0.66056	.|D	.|0.02	.|.	11.3375|11.3375	0.49513|0.49513	0.0:0.9155:0.0:0.0845|0.0:0.9155:0.0:0.0845	.|.	.|277;277	.|B2R7Y0;P05120	.|.;PAI2_HUMAN	Q|S	153|277	.|ENSP00000299502:T277S;ENSP00000401645:T277S	.|ENSP00000299502:T277S	H|T	+|+	3|2	2|0	SERPINB10|SERPINB2	59720769|59720769	0.990000|0.990000	0.36364|0.36364	0.949000|0.949000	0.38748|0.38748	0.661000|0.661000	0.39034|0.39034	3.468000|3.468000	0.53086|0.53086	2.615000|2.615000	0.88500|0.88500	0.557000|0.557000	0.71058|0.71058	CAC|ACT		0.418	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		9	118	0	0	0	1	0	9	118					G	61569789	C	G	61569789	3	3	346	1	0	0	0	0	1	0	0	0	14101	565	20	4	852	4	SERPINB2	18	61569789	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	38763820	61569789	16507459	43	33188											
ZNF426	79088	broad.mit.edu	37	chr19	9646905	9646905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggacaaatcagcagctgCcatcccgcgaggtgagaacg	13	11	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:9646905C>T	ENST00000535489.1	-	1	340	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T|ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	2					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(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCAGCAGCTGCCATCCCGCGA	0.463																																						ENST00000535489.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(4-6)Gca>Aca		zinc finger protein 426							145	115	125					19																	9646905		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9646905C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.4G>A	19.37:g.9646905C>T	ENSP00000439017:p.Ala2Thr					ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T	p.A2T			Q9BUY5	ZN426_HUMAN			1	340	-			2					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.4G>A	CCDS12215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.903|9.903	1.207284|1.207284	0.22205|0.22205	.|.	.|.	ENSG00000130818|ENSG00000130818	ENST00000253115;ENST00000535489|ENST00000545189	T;T|.	0.06294|.	3.32;3.32|.	1.14|1.14	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|.	0.28400|.	0.0702|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.57009|.	0.811|.	T|.	0.27706|.	-1.0066|.	9|.	0.72032|0.72032	D|D	0.01|0.01	.|.	5.6327|5.6327	0.17520|0.17520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|.	Q9BUY5|.	ZN426_HUMAN|.	T|X	2|19	ENSP00000253115:A2T;ENSP00000439017:A2T|.	ENSP00000253115:A2T|ENSP00000442711:W19X	A|W	-|-	1|3	0|0	ZNF426|ZNF426	9507905|9507905	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.122000|0.122000	0.20287|0.20287	-0.377000|-0.377000	0.07456|0.07456	0.931000|0.931000	0.37242|0.37242	0.313000|0.313000	0.20887|0.20887	GCA|TGG		0.463	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		10	66	0	0	0	1	0	10	66					T	9646905	C	T	9646905	3	4	346	1	0	0	0	0	1	0	0	0	17897	739	26	2	1684	2	ZNF426	19	9646905	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		9646905	49482078	44	33189											
EHD2	30846	broad.mit.edu	37	chr19	48229108	48229108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgctggttcgcggagcGcgtggacctcatcatcctgc	14	14	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:48229108G>A	ENST00000263277.3	+	4	793	c.542G>A	c.(541-543)cGc>cAc	p.R181H	EHD2_ENST00000538399.1_Missense_Mutation_p.R45H|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	181	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|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)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCGCGGAGCGCGTGGACCTC	0.637																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(541-543)cGc>cAc		EH-domain containing 2							43	39	40					19																	48229108		2203	4300	6503	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48229108G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.542G>A	19.37:g.48229108G>A	ENSP00000263277:p.Arg181His					CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Missense_Mutation_p.R45H	p.R181H	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	4	793	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	181					B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.542G>A	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055691	0.75960	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.96885	-4.16;-4.16	3.52	3.52	0.40303	Dynamin, GTPase domain (1);	0.065723	0.56097	D	0.000021	D	0.95313	0.8479	L	0.60455	1.87	0.80722	D	1	P	0.50710	0.938	P	0.47376	0.545	D	0.94971	0.8117	10	0.54805	T	0.06	-20.79	12.9714	0.58515	0.0:0.0:1.0:0.0	.	181	Q9NZN4	EHD2_HUMAN	H	181;181;171;45	ENSP00000263277:R181H;ENSP00000439036:R45H	ENSP00000263277:R181H	R	+	2	0	EHD2	52920920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.668000	0.98619	1.702000	0.51228	0.456000	0.33151	CGC		0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			10	43	0	0	0	1	0	10	43					A	48229108	G	A	48229108	3	1	346	1	0	0	0	0	1	0	0	0	4978	1087	38	1	552	1	EHD2	19	48229108	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	38582203	48229108	10899875	45	33190											
CEP250	11190	broad.mit.edu	37	chr20	34059913	34059913	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggaacatgaagcatcTcttagtaggaatgcgcaaga	10	6	1	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:34059913T>C	ENST00000397527.1	+	11	1707	c.987T>C	c.(985-987)tcT>tcC	p.S329S	CEP250_ENST00000342580.4_Silent_p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	329					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)			ATGAAGCATCTCTTAGTAGGA	0.423																																						ENST00000397527.1																			0				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						c.(985-987)tcT>tcC		centrosomal protein 250kDa							166	157	160					20																	34059913		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34059913T>C	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.987T>C	20.37:g.34059913T>C						CEP250_ENST00000342580.4_Silent_p.S329S	p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		11	1707	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		329					E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.987T>C	CCDS13255.1																																																																																				0.423	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		25	166	0	0	0	1	0	25	166					C	34059913	T	C	34059913	2	2	346	1	0	0	0	0	0	0	0	1	3252	1538	54	3		3	CEP250	20	34059913	Silent	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		34059913	28965607	46	33191											
YTHDF1	54915	broad.mit.edu	37	chr20	61833842	61833842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagctggttattgggtaCatccttaacaaaaatccact	8	10	0	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:61833842C>T	ENST00000370339.3	-	4	1791	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	484	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTATTGGGTACATCCTTAACA	0.537																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1450-1452)Gta>Ata		YTH domain family, member 1							128	113	118					20																	61833842		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61833842C>T	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1450G>A	20.37:g.61833842C>T	ENSP00000359364:p.Val484Ile					YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I|YTHDF1_ENST00000370334.4_Intron	p.V484I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1791	-			484			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1450G>A	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197463	0.79015	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.35236	1.32;1.32	4.87	4.87	0.63330	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.42008	1.315	0.80722	D	1	P	0.51351	0.944	P	0.61874	0.895	T	0.41016	-0.9532	10	0.33940	T	0.23	-25.3842	18.0227	0.89259	0.0:1.0:0.0:0.0	.	484	Q9BYJ9	YTHD1_HUMAN	I	484;434	ENSP00000359364:V484I;ENSP00000359358:V434I	ENSP00000359358:V434I	V	-	1	0	YTHDF1	61304287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.708000	0.84633	2.258000	0.74832	0.591000	0.81541	GTA		0.537	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		15	81	0	0	0	1	0	15	81					T	61833842	C	T	61833842	3	4	346	1	0	0	0	0	1	0	0	0	17495	478	17	2	237	2	YTHDF1	20	61833842	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	27773929	61833842	1191678	47	33192											
LZTR1	8216	broad.mit.edu	37	chr22	21347144	21347144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgccatgtacatcttcgGgggcacggtggacaacaaca	13	11	1	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:21347144G>A	ENST00000215739.8	+	11	1570	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	404			G -> R (in SWNTS2). {ECO:0000269|PubMed:24362817}.		anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	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)			TACATCTTCGGGGGCACGGTG	0.652																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1210-1212)gGg>gAg		leucine-zipper-like transcription regulator 1							55	46	49					22																	21347144		2200	4300	6500	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21347144G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1211G>A	22.37:g.21347144G>A	ENSP00000215739:p.Gly404Glu					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E	p.G404E	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		11	1570	+	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)	404					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1211G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144980	0.94603	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.79749	-1.3;-1.3	4.98	4.98	0.66077	Kelch-type beta propeller (1);	0.104019	0.64402	D	0.000003	D	0.90484	0.7019	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.993;0.992	D;D;D;P	0.77557	0.939;0.99;0.919;0.853	D	0.91883	0.5517	10	0.87932	D	0	-45.2203	13.6201	0.62132	0.0:0.0:1.0:0.0	.	385;363;404;363	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	E	363;404;385	ENSP00000215739:G404E;ENSP00000374006:G385E	ENSP00000215739:G404E	G	+	2	0	LZTR1	19677144	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.529000	0.98049	2.582000	0.87167	0.655000	0.94253	GGG		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		4	12	0	0	0	1	0	4	12					A	21347144	G	A	21347144	3	1	346	1	0	0	0	0	1	0	0	0	9137	1232	43	2	1253	2	LZTR1	22	21347144	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		21347144	29957422	48	33193											
SLC22A15	55356	broad.mit.edu	37	chr1	116577849	116577849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatggcctaactctgagtgCgggtgatctaggtggaagta	14	6	2	2	rs201564754		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:116577849C>T	ENST00000369503.4	+	7	1116	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	329					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-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)		ACTCTGAGTGCGGGTGATCTA	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0					ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(985-987)gCg>gTg		solute carrier family 22, member 15							190	180	183					1																	116577849		1941	4155	6096	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116577849C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"Solute carriers"	20301	protein-coding gene	gene with protein product		608275	"solute carrier family 22 (organic cation transporter), member 15"			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.986C>T	1.37:g.116577849C>T	ENSP00000358515:p.Ala329Val					SLC22A15_ENST00000481127.1_3'UTR	p.A329V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		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)	7	1116	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	329					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.986C>T	CCDS44198.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.02	3.529828	0.64860	.	.	ENSG00000163393	ENST00000369503	T	0.59083	0.29	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.109676	0.64402	D	0.000009	T	0.21267	0.0512	N	0.25890	0.77	0.80722	D	1	B	0.16166	0.016	B	0.21360	0.034	T	0.07158	-1.0787	10	0.02654	T	1	.	10.9622	0.47391	0.0:0.8876:0.0:0.1124	.	329	Q8IZD6	S22AF_HUMAN	V	329	ENSP00000358515:A329V	ENSP00000358515:A329V	A	+	2	0	SLC22A15	116379372	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	2.889000	0.48601	2.722000	0.93159	0.650000	0.86243	GCG		0.453	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	78	0	0	0	1	0	4	78					T	116577849	C	T	116577849	3	4	347	1	0	0	0	0	1	0	0	0	14446	768	27	1	1012	1	SLC22A15	1	116577849	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		116577849	132672772	1	33194											
ASPM	259266	broad.mit.edu	37	chr1	197060134	197060134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctatgatatttctgaAtaaatctcttttcttgtaat	5	5	3	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:197060134A>G	ENST00000367409.4	-	23	9738	c.9482T>C	c.(9481-9483)aTt>aCt	p.I3161T	ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T|ASPM_ENST00000367408.1_Missense_Mutation_p.I826T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3161					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						ATATTTCTGAATAAATCTCTT	0.328																																						ENST00000367409.4																			0				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						c.(9481-9483)aTt>aCt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							87	86	87					1																	197060134		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060134A>G	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.9482T>C	1.37:g.197060134A>G	ENSP00000356379:p.Ile3161Thr					ASPM_ENST00000367408.1_Missense_Mutation_p.I826T|ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T	p.I3161T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			23	9738	-			3161					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9482T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959889	0.34565	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71341	-0.56;-0.56;1.36	4.8	1.01	0.19927	.	0.903593	0.09291	N	0.822357	T	0.66096	0.2755	L	0.38175	1.15	0.09310	N	1	B;B;P	0.51933	0.411;0.148;0.949	B;B;P	0.54759	0.196;0.018;0.76	T	0.53107	-0.8485	10	0.15499	T	0.54	.	5.2326	0.15430	0.5303:0.0:0.0749:0.3948	.	1147;1576;3161	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	T	3161;1576;826;1147	ENSP00000356379:I3161T;ENSP00000294732:I1576T;ENSP00000356378:I826T	ENSP00000294732:I1576T	I	-	2	0	ASPM	195326757	0.017000	0.18338	0.001000	0.08648	0.401000	0.30781	0.480000	0.22244	-0.022000	0.13986	0.402000	0.26972	ATT		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		3	37	0	0	0	1	0	3	37					G	197060134	A	G	197060134	3	3	347	1	0	0	0	0	1	0	0	0	1056	101	4	3	975	3	ASPM	1	197060134	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	80482285	197060134	52190487	2	33195											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	40	0	0	0	1	0	18	40					T	209113112	C	T	209113112	3	4	347	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		209113112	34086261	3	33196											
GRIP2	80852	broad.mit.edu	37	chr3	14535207	14535207	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactgctggggcctggcgatCggggggcccggctgctgtgt	20	11	0	0	rs181971811		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	ENST00000273083.3	-	0	3162							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16370	0.0		0.001	False		,,,				2504	0.0					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							15	20	18					3																	14535207		1983	4132	6115			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14535207C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14535207C>T										Q9C0E4	GRIP2_HUMAN			0	3162	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.672	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		9	9	0	0	0	1	0	9	9					T	14535207	C	T	14535207	1	4	347	0	1	0	0	0	0	0	0	0	6788	884	31	1		1	GRIP2	3	14535207	RNA	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		14535207	183487223	4	33197											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	8	21	0	0	rs538844201	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13	16	15					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	60	0	0	0	1	0	3	60					G	3443797	C	G	3443797	2	3	347	1	0	0	0	0	0	0	0	1	7086	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		3443797	187710479	5	33198											
SLC6A3	6531	broad.mit.edu	37	chr5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-													catgatgaagaagaccacggCccaggctgaggacagaggga							TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	ENST00000270349.9	-	9	1349	c.1222delG	c.(1222-1224)gccfs	p.A408fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	408					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AAGACCACGGCCCAGGCTGAG	0.637																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1222-1224)ccfs		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						85	66	72					5																	1411405		2142	4224	6366	SO:0001589	frameshift_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1411405delC		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1222delG	5.37:g.1411405delC	ENSP00000270349:p.Ala408fs					SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		9	1349	-			408					A2RUN4|Q14996	Frame_Shift_Del	DEL	ENST00000270349.9	37	c.1222delG	CCDS3863.1																																																																																				0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		2	4						2	4	---	---	---	---	-	1411405	C	-	1411405	7	5	347	1	0	1	0	1	0	0	0	0	14685	739	26	0	668	0	SLC6A3	5	1411405	Frame_Shift_Del	DEL	C	TCGA-HW-A5KL-01A-11D-A27K-08		1411405	179503855	6	33199											
ARSK	153642	broad.mit.edu	37	chr5	94918697	94918697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatggttaatcttatccGtaacaggactaaagtcagag	9	9	2	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:94918697G>A	ENST00000380009.4	+	4	699	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165					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)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATCTTATCCGTAACAGGACT	0.418																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(493-495)cGt>cAt		arylsulfatase family, member K							145	140	142					5																	94918697		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94918697G>A		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.494G>A	5.37:g.94918697G>A	ENSP00000369346:p.Arg165His						p.R165H	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	4	699	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	165					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.494G>A	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403126	0.25291	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98550	-4.99	6.02	3.28	0.37604	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.322034	0.35013	N	0.003518	D	0.91536	0.7327	N	0.08118	0	0.27003	N	0.964871	B	0.23316	0.083	B	0.18561	0.022	T	0.83251	-0.0053	10	0.12430	T	0.62	-7.5499	5.079	0.14647	0.223:0.3815:0.3284:0.0671	.	165	Q6UWY0	ARSK_HUMAN	H	165	ENSP00000369346:R165H	ENSP00000369346:R165H	R	+	2	0	ARSK	94944453	0.978000	0.34361	0.042000	0.18584	0.485000	0.33311	2.804000	0.47931	0.432000	0.26286	-0.882000	0.02950	CGT		0.418	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		4	124	0	0	0	1	0	4	124					A	94918697	G	A	94918697	3	1	347	1	0	0	0	0	1	0	0	0	996	1145	40	1	508	1	ARSK	5	94918697	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	93507292	94918697	85996563	7	33200											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	51	0	0	0	1	0	5	51					G	45390466	A	G	45390466	2	3	347	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08		45390466	125724601	8	33201											
EIF3B	8662	broad.mit.edu	37	chr7	2414229	2414229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacagttcgtggtgttggCgggcctgaggaggtaggtgt	20	5	0	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:2414229C>T	ENST00000360876.4	+	13	1933	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	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)		GTGGTGTTGGCGGGCCTGAGG	0.627																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1876-1878)gCg>gTg		eukaryotic translation initiation factor 3, subunit B							118	113	114					7																	2414229		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2414229C>T	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.1877C>T	7.37:g.2414229C>T	ENSP00000354125:p.Ala626Val					EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	p.A626V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	13	1933	+		Ovarian(82;0.0253)	626						Missense_Mutation	SNP	ENST00000360876.4	37	c.1877C>T	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734161	0.69189	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.04706	3.57;3.57	5.34	5.34	0.76211	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.73217	2.22	0.80722	D	1	D	0.56287	0.975	P	0.50082	0.63	T	0.00366	-1.1786	10	0.59425	D	0.04	-26.1623	19.0387	0.92989	0.0:1.0:0.0:0.0	.	626	P55884	EIF3B_HUMAN	V	626;626;626;550	ENSP00000354125:A626V;ENSP00000380206:A626V	ENSP00000316638:A626V	A	+	2	0	EIF3B	2380755	1.000000	0.71417	0.224000	0.23877	0.034000	0.12701	7.673000	0.83973	2.500000	0.84329	0.655000	0.94253	GCG		0.627	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			4	134	0	0	0	1	0	4	134					T	2414229	C	T	2414229	3	4	347	1	0	0	0	0	1	0	0	0	5013	768	27	1	1927	1	EIF3B	7	2414229	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		2414229	156724434	9	33202											
FAM180A	389558	broad.mit.edu	37	chr7	135418932	135418932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctggcgctgagccggcGgatgtctgggatgctcttgg	19	9	2	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:135418932G>A	ENST00000338588.3	-	3	578	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	105						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGAGCCGGCGGATGTCTGGG	0.602																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(313-315)Cgc>Tgc		family with sequence similarity 180, member A							124	112	116					7																	135418932		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418932G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.313C>T	7.37:g.135418932G>A	ENSP00000342336:p.Arg105Cys					FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C	p.R105C	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	578	-			105					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.313C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690137	0.88735	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.34859	1.34;1.34	5.35	5.35	0.76521	.	0.053480	0.85682	D	0.000000	T	0.59985	0.2234	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.63060	-0.6721	10	0.72032	D	0.01	-22.3527	16.5598	0.84537	0.0:0.0:1.0:0.0	.	105	Q6UWF9	F180A_HUMAN	C	105	ENSP00000342336:R105C;ENSP00000395467:R105C	ENSP00000342336:R105C	R	-	1	0	FAM180A	135069472	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.471000	0.60182	2.520000	0.84964	0.491000	0.48974	CGC		0.602	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		12	195	0	0	0	1	0	12	195					A	135418932	G	A	135418932	3	1	347	1	0	0	0	0	1	0	0	0	5507	1116	39	1	212	1	FAM180A	7	135418932	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	133004703	135418932	23719731	10	33203											
TTC17	55761	broad.mit.edu	37	chr11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtacgctatcatcGtggagatatctttgaaaatg	9	9	2	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	ENST00000039989.4	+	10	1312	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	433					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						CGCTATCATCGTGGAGATATC	0.373																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1297-1299)cGt>cAt		tetratricopeptide repeat domain 17																																				SO:0001583	missense	55761						binding	g.chr11:43423074G>A	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.1298G>A	11.37:g.43423074G>A	ENSP00000039989:p.Arg433His					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			10	1312	+			433					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1298G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267308	0.95399	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.38240	1.15;1.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.983;0.991;0.996	T	0.51537	-0.8693	10	0.44086	T	0.13	-13.6429	20.8794	0.99867	0.0:0.0:1.0:0.0	.	433;433;433	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	433	ENSP00000299240:R433H;ENSP00000039989:R433H	ENSP00000039989:R433H	R	+	2	0	TTC17	43379650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.825000	0.92029	2.941000	0.99782	0.655000	0.94253	CGT		0.373	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		10	20	0	0	0	1	0	10	20					A	43423074	G	A	43423074	3	1	347	1	0	0	0	0	1	0	0	0	16681	1145	40	1	1336	1	TTC17	11	43423074	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		43423074	91583442	11	33204											
IPO8	10526	broad.mit.edu	37	chr12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taattaccgttcaaagagccGagctacaatatgcagtgccc	8	11	1	1	rs377410854		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	ENST00000256079.4	-	7	1149	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.R271W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.R271W(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(811-813)Cgg>Tgg		importin 8							248	236	240					12																	30827606		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30827606G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.811C>T	12.37:g.30827606G>A	ENSP00000256079:p.Arg271Trp					IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	p.R271W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			7	1149	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		271					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.811C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978488	0.74360	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.68624	1.4;-0.34;-0.34	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.052718	0.64402	D	0.000001	D	0.85150	0.5631	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89392	0.3689	10	0.87932	D	0	-5.7408	16.6289	0.85011	0.0:0.0:1.0:0.0	.	66;271	B7Z7M3;O15397	.;IPO8_HUMAN	W	271;66;85	ENSP00000256079:R271W;ENSP00000444520:R66W;ENSP00000439556:R85W	ENSP00000256079:R271W	R	-	1	2	IPO8	30718873	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.205000	0.51090	2.202000	0.70862	0.563000	0.77884	CGG		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		73	119	0	0	0	1	0	73	119					A	30827606	G	A	30827606	3	1	347	1	0	0	0	0	1	0	0	0	7798	1057	37	1	2378	1	IPO8	12	30827606	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		30827606	103024289	12	33205											
FANCM	57697	broad.mit.edu	37	chr14	45645153	45645153	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atccatctgaaaaaagttgcCtttatgatatacctaatgat	5	7	1	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:45645153C>G	ENST00000267430.5	+	14	3281	c.3196C>G	c.(3196-3198)Ctt>Gtt	p.L1066V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1066					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAGTTGCCTTTATGATAT	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3196-3198)Ctt>Gtt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							25	26	25					14																	45645153		2203	4297	6500	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645153C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3196C>G	14.37:g.45645153C>G	ENSP00000267430:p.Leu1066Val					FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	p.L1066V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3281	+			1066					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3196C>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	1.438	-0.568412	0.03910	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.20598	2.66;2.66;2.06	5.23	-1.43	0.08884	.	1.554990	0.03059	N	0.155659	T	0.17280	0.0415	L	0.46157	1.445	0.09310	N	1	B;B	0.31193	0.018;0.312	B;B	0.28553	0.025;0.091	T	0.17379	-1.0371	10	0.38643	T	0.18	.	3.2335	0.06756	0.2935:0.3507:0.0:0.3557	.	1040;1066	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	V	1066;1040;582	ENSP00000267430:L1066V;ENSP00000442493:L1040V;ENSP00000452033:L582V	ENSP00000267430:L1066V	L	+	1	0	FANCM	44714903	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.492000	0.06467	-0.241000	0.09681	-0.216000	0.12614	CTT		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		4	31	0	0	0	1	0	4	31					G	45645153	C	G	45645153	3	3	347	1	0	0	0	0	1	0	0	0	5671	681	24	4	3250	4	FANCM	14	45645153	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		45645153	61704387	13	33206											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-													ggatctttctccagaaactgTactatacaatatgccagctg					rs368179547		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	ENST00000337537.3	-	9	1465_1469	c.863_867delTAGTA	c.(862-867)atagtafs	p.IV288fs	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs|PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs	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	288					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)		CCAGAAACTGTACTATACAATATGC	0.293																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(862-867)afs		protein phosphatase 2, regulatory subunit B', epsilon isoform																																				SO:0001589	frameshift_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858726_63858730delTACTA	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.863_867delTAGTA	14.37:g.63858726_63858730delTACTA	ENSP00000337641:p.Ile288fs					PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs	p.IV288fs	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	9	1465_1469	-			288					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Frame_Shift_Del	DEL	ENST00000337537.3	37	c.863_867delTAGTA	CCDS9758.1																																																																																				0.293	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		8	15						8	15	---	---	---	---	-	63858730	TACTA	-	63858726	7	5	347	1	0	1	0	1	0	0	0	0	12396	1625	57	0	560	0	PPP2R5E	14	63858726	Frame_Shift_Del	DEL	TACTA	TCGA-HW-A5KL-01A-11D-A27K-08	18213573	63858726	43490814	14	33207											
CRAMP1L	57585	broad.mit.edu	37	chr16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcctctccataccgctgtCctcgtcagagagctccagca	9	16	2	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	ENST00000397412.3	+	18	3272	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1058						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						ATACCGCTGTCCTCGTCAGAG	0.602																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3172-3174)tCc>tTc		Crm, cramped-like (Drosophila)							44	44	44					16																	1718033		2076	4225	6301	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1718033C>T	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.3173C>T	16.37:g.1718033C>T	ENSP00000380559:p.Ser1058Phe					CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F	p.S1058F			Q96RY5	CRML_HUMAN			18	3272	+			1058					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.3173C>T	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417345	0.83449	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.86	4.9	0.64082	.	0.472319	0.24024	N	0.042244	T	0.21387	0.0515	N	0.08118	0	0.31021	N	0.718115	P	0.44946	0.846	B	0.37198	0.243	T	0.09422	-1.0675	9	0.56958	D	0.05	-7.5446	16.9765	0.86314	0.0:0.8723:0.1277:0.0	.	1058	Q96RY5	CRML_HUMAN	F	1058;1058;1055;436	.	ENSP00000262317:S436F	S	+	2	0	CRAMP1L	1658034	0.971000	0.33674	0.008000	0.14137	0.142000	0.21351	3.832000	0.55783	1.462000	0.47948	0.650000	0.86243	TCC		0.602	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			22	43	0	0	0	1	0	22	43					T	1718033	C	T	1718033	3	4	347	1	0	0	0	0	1	0	0	0	3846	855	30	2	3239	2	CRAMP1L	16	1718033	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		1718033	88636720	15	33208											
XYLT1	64131	broad.mit.edu	37	chr16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattgtgcagcttcagtgCctcctctgaaagccaaaggg	10	13	2	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	ENST00000261381.6	-	12	2647	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	855					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						AGCTTCAGTGCCTCCTCTGAA	0.562																																						ENST00000261381.6																			0				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						c.(2563-2565)Gca>Aca		xylosyltransferase I							60	63	62					16																	17202869		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202869C>T	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.2563G>A	16.37:g.17202869C>T	ENSP00000261381:p.Ala855Thr						p.A855T	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			12	2647	-			855					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2563G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966449	0.34659	.	.	ENSG00000103489	ENST00000261381	T	0.04970	3.52	5.81	2.5	0.30297	.	0.388845	0.31145	N	0.008163	T	0.08044	0.0201	M	0.77103	2.36	0.47009	D	0.999285	B	0.22746	0.074	B	0.19148	0.024	T	0.12863	-1.0531	10	0.45353	T	0.12	-4.2815	3.1441	0.06466	0.1617:0.549:0.1149:0.1744	.	855	Q86Y38	XYLT1_HUMAN	T	855	ENSP00000261381:A855T	ENSP00000261381:A855T	A	-	1	0	XYLT1	17110370	0.483000	0.25956	0.934000	0.37439	0.567000	0.35839	1.075000	0.30716	0.742000	0.32697	0.655000	0.94253	GCA		0.562	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		48	38	0	0	0	1	0	48	38					T	17202869	C	T	17202869	3	4	347	1	0	0	0	0	1	0	0	0	17460	739	26	2	320	2	XYLT1	16	17202869	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	15484836	17202869	73151884	16	33209											
OR1D2	4991	broad.mit.edu	37	chr17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagatggccacatagcGgtcatatgccatcacagcca	10	13	2	1	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	ENST00000331459.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	122					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|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)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537													.|||	7	0.00139776	0.0053	0.0	5008	,	,		20713	0.0		0.0	False		,,,				2504	0.0					ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(364-366)Cgc>Tgc		olfactory receptor, family 1, subfamily D, member 2		G	CYS/ARG	39,4367	43.8+/-77.6	0,39,2164	118	120	120		364	3	1	17	dbSNP_130	120	1,8599		0,1,4299	yes	missense	OR1D2	NM_002548.2	180	0,40,6463	AA,AG,GG		0.0116,0.8852,0.3076	benign	122/313	2995927	40,12966	2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995927G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.364C>T	17.37:g.2995927G>A	ENSP00000327585:p.Arg122Cys						p.R122C	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	363	-			122					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.364C>T	CCDS11019.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	13.77	2.334986	0.41398	0.008852	1.16E-4	ENSG00000184166	ENST00000331459	T	0.77358	-1.09	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75042	0.3796	M	0.90019	3.08	0.45390	D	0.99837	B	0.26318	0.146	B	0.22601	0.04	T	0.81435	-0.0934	9	0.87932	D	0	.	12.62	0.56597	0.0:0.0:1.0:0.0	.	122	P34982	OR1D2_HUMAN	C	122	ENSP00000327585:R122C	ENSP00000327585:R122C	R	-	1	0	OR1D2	2942677	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	3.504000	0.53347	1.489000	0.48450	0.543000	0.68304	CGC		0.537	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		22	103	0	0	0	1	0	22	103					A	2995927	G	A	2995927	3	1	347	1	0	0	0	0	1	0	0	0	10953	1116	39	1	577	1	OR1D2	17	2995927	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		2995927	78199283	17	33210											
TP53	7157	broad.mit.edu	37	chr17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgtagttgtagtggAtggtggtacagtcagagcca	13	6	1	1	rs587781589		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	ENST00000269305.4	-	7	884	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_ENST00000420246.2_Missense_Mutation_p.I232S|TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S	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	232	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|I -> T (in sporadic cancers; somatic mutation).|I -> 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.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(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)	GTTGTAGTGGATGGTGGTACA	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		46	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(5)|Insertion - In frame(4)|Insertion - Frameshift(1)	p.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|endometrium(4)|breast(4)|NS(4)|bone(4)|lung(3)|oesophagus(3)|liver(3)|stomach(2)|central_nervous_system(2)|ovary(2)|thymus(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						c.(694-696)aTc>aGc	Other conserved DNA damage response genes	tumor protein p53							113	90	98					17																	7577586		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577586A>C	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.695T>G	17.37:g.7577586A>C	ENSP00000269305:p.Ile232Ser	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)				TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000269305.4_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S	p.I232S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	827	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	232		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.695T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387397	0.82902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.174276	0.51477	D	0.000096	D	0.99711	0.9889	M	0.85630	2.765	0.54753	D	0.999989	D;P;P;D;D;D	0.60160	0.976;0.805;0.937;0.98;0.98;0.987	D;P;P;D;D;P	0.72338	0.943;0.575;0.824;0.977;0.966;0.78	D	0.97280	0.9917	10	0.87932	D	0	-25.5076	12.3101	0.54924	1.0:0.0:0.0:0.0	.	232;232;139;232;232;232	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	232;232;232;232;232;232;221;139;100;139	ENSP00000410739:I232S;ENSP00000352610:I232S;ENSP00000269305:I232S;ENSP00000398846:I232S;ENSP00000391127:I232S;ENSP00000391478:I232S;ENSP00000425104:I100S;ENSP00000423862:I139S	ENSP00000269305:I232S	I	-	2	0	TP53	7518311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.061000	0.93913	2.074000	0.62210	0.379000	0.24179	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	9	0	0	0	1	0	40	9					C	7577586	A	C	7577586	3	2	347	1	0	0	0	0	1	0	0	0	16378	333	12	5	595	5	TP53	17	7577586	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	4581659	7577586	73617624	18	33211											
PLVAP	83483	broad.mit.edu	37	chr19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctccatcctgagctGctccgcctccctcttcttct	7	19	3	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	ENST00000252590.4	-	3	1181	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	374					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						ATCCTGAGCTGCTCCGCCTCC	0.622																																						ENST00000252590.4																			0				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						c.(1120-1122)Cag>Gag		plasmalemma vesicle associated protein							99	86	90					19																	17476154		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476154G>C	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.1120C>G	19.37:g.17476154G>C	ENSP00000252590:p.Gln374Glu						p.Q374E	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			3	1181	-			374					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.1120C>G	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608528	0.14002	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	3.15	0.36227	.	1.113020	0.06596	N	0.752845	T	0.25568	0.0622	L	0.29908	0.895	0.09310	N	1	B	0.33000	0.393	B	0.31946	0.138	T	0.17018	-1.0383	9	0.12103	T	0.63	-3.7921	8.3346	0.32206	0.1887:0.0:0.8113:0.0	.	374	Q9BX97	PLVAP_HUMAN	E	374	.	ENSP00000252590:Q374E	Q	-	1	0	PLVAP	17337154	0.307000	0.24500	0.112000	0.21494	0.307000	0.27823	2.141000	0.42168	1.242000	0.43836	0.462000	0.41574	CAG		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		40	67	0	0	0	1	0	40	67					C	17476154	G	C	17476154	3	2	347	1	0	0	0	0	1	0	0	0	12116	1328	46	4	224	4	PLVAP	19	17476154	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		17476154	41652829	19	33212											
CYP2B6	1555	broad.mit.edu	37	chr19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtgtggagaagcaccGtgaaaccctggaccccagcg	12	14	0	2	rs373086625		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	ENST00000324071.4	+	5	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	253					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GAGAAGCACCGTGAAACCCTG	0.527																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(757-759)cGt>cAt		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						77	83	81					19																	41515236		2202	4300	6502	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515236G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.758G>A	19.37:g.41515236G>A	ENSP00000324648:p.Arg253His					CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	p.R253H	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	765	+			253					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.758G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.264098	0.39995	.	.	ENSG00000197408	ENST00000324071	T	0.71103	-0.54	4.32	0.823	0.18812	.	0.285244	0.31061	N	0.008327	T	0.62490	0.2432	M	0.73319	2.225	0.09310	N	0.999999	B	0.27594	0.182	B	0.23852	0.049	T	0.57195	-0.7853	10	0.56958	D	0.05	.	5.5972	0.17333	0.4638:0.0:0.5362:0.0	.	253	P20813	CP2B6_HUMAN	H	253	ENSP00000324648:R253H	ENSP00000324648:R253H	R	+	2	0	CYP2B6	46207076	0.000000	0.05858	0.310000	0.25168	0.440000	0.31957	0.378000	0.20569	0.465000	0.27167	0.313000	0.20887	CGT		0.527	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		63	129	0	0	0	1	0	63	129					A	41515236	G	A	41515236	3	1	347	1	0	0	0	0	1	0	0	0	4164	1145	40	1	776	1	CYP2B6	19	41515236	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	24039082	41515236	17613747	20	33213											
TMEM143	55260	broad.mit.edu	37	chr19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-													gtcctaccttcgggcgagccTtgagtgccccctggccgccg							TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	ENST00000293261.3	-	7	1468	c.1152delA	c.(1150-1152)caafs	p.Q384fs	TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	384					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)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1150-1152)cafs		transmembrane protein 143							8	9	9					19																	48837278		2160	4238	6398	SO:0001589	frameshift_variant	55260					integral to membrane|mitochondrion		g.chr19:48837278delT	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.1152delA	19.37:g.48837278delT	ENSP00000293261:p.Gln384fs		OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	957	TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs	p.Q384fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	7	1468	-		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)	384					A8K656|Q6UXY4|Q9NV49	Frame_Shift_Del	DEL	ENST00000293261.3	37	c.1152delA	CCDS12716.1																																																																																				0.751	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		2	4						2	4	---	---	---	---	-	48837278	T	-	48837278	7	5	347	1	0	1	0	1	0	0	0	0	16054	1606	56	0	235	0	TMEM143	19	48837278	Frame_Shift_Del	DEL	T	TCGA-HW-A5KL-01A-11D-A27K-08	7322042	48837278	10291705	21	33214											
ERG	2078	broad.mit.edu	37	chr21	39755828	39755828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggaggaactgccaaaGctggatctggccactgccta	11	13	1	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr21:39755828G>A	ENST00000417133.2	-	12	1143	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	ERG_ENST00000398907.1_Missense_Mutation_p.L290F|ERG_ENST00000398910.1_Missense_Mutation_p.L297F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000442448.1_Missense_Mutation_p.L296F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0			S -> L (in LQT2). {ECO:0000269|PubMed:15840476}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AACTGCCAAAGCTGGATCTGG	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(886-888)Ctt>Ttt		v-ets avian erythroblastosis virus E26 oncogene homolog							44	45	44					21																	39755828		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755828G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.958C>T	21.37:g.39755828G>A	ENSP00000414150:p.Leu320Phe					ERG_ENST00000398910.1_Missense_Mutation_p.L297F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000417133.2_Missense_Mutation_p.L320F|ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398907.1_Missense_Mutation_p.L290F	p.L296F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1157	-		Prostate(19;3.6e-06)	320					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.886C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366021	0.82463	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	H	0.97587	4.035	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	0.94588	0.7785	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	320;289;296;313	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	F	289;290;313;197;296;320;297;296;221;320	ENSP00000381877:L289F;ENSP00000381879:L290F;ENSP00000288319:L313F;ENSP00000381871:L197F;ENSP00000381882:L296F;ENSP00000414150:L320F;ENSP00000381881:L297F;ENSP00000394694:L296F;ENSP00000396268:L221F;ENSP00000381891:L320F	ENSP00000288319:L313F	L	-	1	0	ERG	38677698	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CTT		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		5	86	0	0	0	1	0	5	86					A	39755828	G	A	39755828	3	1	347	1	0	0	0	0	1	0	0	0	5222	971	34	2	506	2	ERG	21	39755828	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		39755828	8374067	22	33215											
EFHC2	80258	broad.mit.edu	37	chrX	44120532	44120532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtaatccgatgacgcCggatagaagtccctatggca	12	9	0	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	ENST00000420999.1	-	4	478	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	132	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413													C|||	1	0.000264901	0.0	0.0	3775	,	,		14401	0.0		0.0	False		,,,				2504	0.001					ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(394-396)cGg>cAg		EF-hand domain (C-terminal) containing 2							51	44	46					X																	44120532		1853	4089	5942	SO:0001583	missense	80258						calcium ion binding	g.chrX:44120532C>T	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.395G>A	X.37:g.44120532C>T	ENSP00000404232:p.Arg132Gln						p.R132Q	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			4	478	-			132			DM10 1.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.395G>A	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269498	0.59540	.	.	ENSG00000183690	ENST00000333807;ENST00000420999	T;T	0.50277	0.75;0.75	5.83	4.08	0.47627	Uncharacterised domain DM10 (2);	0.156078	0.43110	D	0.000601	T	0.45696	0.1355	M	0.75884	2.315	0.52501	D	0.999959	D	0.60160	0.987	B	0.38655	0.278	T	0.50964	-0.8765	10	0.59425	D	0.04	-1.599	12.0488	0.53495	0.0:0.857:0.0:0.143	.	132	Q5JST6	EFHC2_HUMAN	Q	132;160	ENSP00000333823:R132Q;ENSP00000404232:R160Q	ENSP00000333823:R132Q	R	-	2	0	EFHC2	44005476	0.945000	0.32115	0.989000	0.46669	0.923000	0.55619	2.016000	0.40971	0.613000	0.30089	-0.190000	0.12839	CGG		0.413	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		23	31	0	0	0	1	0	23	31					T	44120532	C	T	44120532	3	4	347	1	0	0	0	0	1	0	0	0	4947	652	23	1	1902	1	EFHC2	23	44120532	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		44120532	111150028	23	33216											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	10						5	10	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	347	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	10088770	54209302	101061258	24	33217											
ALAS2	212	broad.mit.edu	37	chrX	55052378	55052378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttgcctaggaggcttGtggggccccgggcaagcact	14	14	0	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	ENST00000330807.5	-	2	193	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I|ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	19					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(55-57)aCa>aTa		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						89	67	75					X																	55052378		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55052378G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.56C>T	X.37:g.55052378G>A	ENSP00000332369:p.Thr19Ile					ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I|ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I	p.T19I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			2	193	-			19					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.56C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289775	0.23478	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96992	-4.12;-4.19;-4.2	4.39	3.49	0.39957	5-aminolevulinate synthase presequence (1);	0.433992	0.26642	N	0.023260	D	0.91432	0.7296	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.004;0.004;0.005	T	0.83291	-0.0033	10	0.42905	T	0.14	-0.7705	7.4006	0.26962	0.1394:0.0:0.8605:0.0	.	19;43;19	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	I	19;43;19	ENSP00000332369:T19I;ENSP00000379501:T43I;ENSP00000337131:T19I	ENSP00000332369:T19I	T	-	2	0	ALAS2	55069103	0.863000	0.29885	0.008000	0.14137	0.817000	0.46193	1.068000	0.30629	0.885000	0.36088	0.523000	0.50628	ACA		0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		14	62	0	0	0	1	0	14	62					A	55052378	G	A	55052378	3	1	347	1	0	0	0	0	1	0	0	0	485	1377	48	2	1747	2	ALAS2	23	55052378	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	843076	55052378	100218182	25	33218											
UBQLN2	29978	broad.mit.edu	37	chrX	56590705	56590705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgactcccaggagtaactcCacacctatttccacaaatag	5	14	0	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:56590705C>T	ENST00000338222.5	+	1	680	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	133					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						GGAGTAACTCCACACCTATTT	0.572																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	ENST00000338222.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						c.(397-399)tcC>tcT		ubiquilin 2							39	36	37					X																	56590705		2203	4300	6503	SO:0001819	synonymous_variant	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590705C>T	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.399C>T	X.37:g.56590705C>T							p.S133S	NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN			1	680	+			133					O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	c.399C>T	CCDS14374.1																																																																																				0.572	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		7	56	0	0	0	1	0	7	56					T	56590705	C	T	56590705	2	4	347	1	0	0	0	0	0	0	0	1	16894	581	21	2		2	UBQLN2	23	56590705	Silent	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	1538327	56590705	98679855	26	33219											
RLIM	51132	broad.mit.edu	37	chrX	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G													gaagatcaaggactatggttINSggaggtctctgtcctgatcc					rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	ENST00000332687.6	-	4	1168_1169	c.950_951insC	c.(949-951)ccafs	p.P317fs	RLIM_ENST00000349225.2_Frame_Shift_Ins_p.P317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	317					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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.48																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(949-951)cacfs		ring finger protein, LIM domain interacting																																				SO:0001589	frameshift_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812199_73812200insG	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.951dupC	X.37:g.73812201_73812201dupG	ENSP00000328059:p.Pro317fs					RLIM_ENST00000349225.2_Frame_Shift_Ins_p.H317fs	p.H317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1168_1169	-			317					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Frame_Shift_Ins	INS	ENST00000332687.6	37	c.950_951insC	CCDS14427.1																																																																																				0.48	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		30	34						30	34	---	---	---	---	G	73812200	-	G	73812199	7	5	347	1	0	1	1	0	0	0	0	0	13390	1799	63	0	927	0	RLIM	23	73812199	Frame_Shift_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	17221494	73812199	81458361	27	33220											
ATRX	546	broad.mit.edu	37	chrX	76939961	76939961	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaatgtagcaataccAttggttgttttcatccatta	7	7	1	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	ENST00000373344.5	-	9	1001	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TAGCAATACCATTGGTTGTTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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	GRCh37	CM005475	ATRX	M		c.(787-789)Tgg>Cgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						158	146	150					X																	76939961		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939961A>G	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.787T>C	X.37:g.76939961A>G	ENSP00000362441:p.Trp263Arg					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	p.W263R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1001	-			263			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.787T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924716	0.34002	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.99563	-6.17;-6.17	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.85945	2.785	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;1.0;0.999;0.999	D	0.97871	1.0286	10	0.87932	D	0	-4.0559	14.6389	0.68708	1.0:0.0:0.0:0.0	.	263;224;225;263	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	R	263;225;219	ENSP00000362441:W263R;ENSP00000378967:W225R	ENSP00000362441:W263R	W	-	1	0	ATRX	76826617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.838000	0.53458	0.417000	0.27973	TGG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		111	98	0	0	0	1	0	111	98					G	76939961	A	G	76939961	3	3	347	1	0	0	0	0	1	0	0	0	1208	217	8	3	6799	3	ATRX	23	76939961	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	3127762	76939961	78330599	28	33221											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299672	125299672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgggcagcctctggacgGcgtagccccgcagctcgccc	14	18	1	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	ENST00000360028.2	-	1	262	c.236C>T	c.(235-237)gCc>gTc	p.A79V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A79V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										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						CCTCTGGACGGCGTAGCCCCG	0.706																																						ENST00000538699.1																			0				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						c.(235-237)gCc>gTc		DDB1 and CUL4 associated factor 12-like 2							24	26	25					X																	125299672		2191	4270	6461	SO:0001583	missense	340578							g.chrX:125299672G>A	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.236C>T	X.37:g.125299672G>A	ENSP00000353128:p.Ala79Val					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A79V	p.A79V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	316	-			79					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.236C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.299571	0.40694	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35789	1.29;1.29	3.28	1.42	0.22433	.	.	.	.	.	T	0.28830	0.0715	L	0.52126	1.63	0.29168	N	0.877348	B	0.15930	0.015	B	0.12837	0.008	T	0.22695	-1.0209	9	0.40728	T	0.16	.	5.4703	0.16666	0.1309:0.2112:0.6579:0.0	.	79	Q5VW00	DC122_HUMAN	V	79	ENSP00000441489:A79V;ENSP00000353128:A79V	ENSP00000353128:A79V	A	-	2	0	DCAF12L2	125127353	1.000000	0.71417	0.074000	0.20217	0.066000	0.16364	6.692000	0.74578	0.236000	0.21180	0.287000	0.19450	GCC		0.706	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		27	56	0	0	0	1	0	27	56					A	125299672	G	A	125299672	3	1	347	1	0	0	0	0	1	0	0	0	4265	1203	42	2	1159	2	DCAF12L2	23	125299672	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	48359711	125299672	29970888	29	33222											
SPANXD	64648	broad.mit.edu	37	chrX	140785839	140785839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacccactcgaggtctccGgcatctgttaagaaaacagg	10	11	2	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:140785839G>A	ENST00000370515.3	-	2	410	c.77C>T	c.(76-78)cCg>cTg	p.P26L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	26						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGAGGTCTCCGGCATCTGTTA	0.493																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(76-78)cCg>cTg		SPANX family, member D							142	103	116					X																	140785839		2199	4262	6461	SO:0001583	missense	64648							g.chrX:140785839G>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.77C>T	X.37:g.140785839G>A	ENSP00000359546:p.Pro26Leu						p.P26L	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	410	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.77C>T	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.777	0.927218	0.18056	.	.	ENSG00000196406	ENST00000370515	T	0.07800	3.16	.	.	.	.	.	.	.	.	T	0.18341	0.0440	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10730	-1.0617	6	0.41790	T	0.15	.	.	.	.	.	26	Q9BXN6	SPNXD_HUMAN	L	26	ENSP00000359546:P26L	ENSP00000359546:P26L	P	-	2	0	SPANXD	140613505	0.003000	0.15002	0.022000	0.16811	0.053000	0.15095	-1.963000	0.01513	-0.559000	0.06110	0.068000	0.15388	CCG		0.493	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			7	165	0	0	0	1	0	7	165					A	140785839	G	A	140785839	3	1	347	1	0	0	0	0	1	0	0	0	14988	1116	39	1	220	1	SPANXD	23	140785839	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	15486167	140785839	14484721	30	33223											
PLXNB3	5365	broad.mit.edu	37	chrX	153039467	153039467	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagggcttcctgtacCagcccaacccccgcctggca	12	18	0	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	ENST00000361971.5	+	20	3547	c.3433C>A	c.(3433-3435)Cag>Aag	p.Q1145K	SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q1168K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1145	IPT/TIG 3.				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)					CTTCCTGTACCAGCCCAACCC	0.672																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3502-3504)Cag>Aag		plexin B3							27	28	28					X																	153039467		2195	4285	6480	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039467C>A	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.3433C>A	X.37:g.153039467C>A	ENSP00000355378:p.Gln1145Lys					PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q1145K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K	p.Q1168K	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			21	3773	+	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)		1145			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3502C>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799376	0.50208	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.28	2.37	0.29283	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.692072	0.14902	N	0.291774	T	0.45196	0.1330	L	0.46157	1.445	0.25048	N	0.991158	B;B;B	0.21688	0.019;0.059;0.019	B;B;B	0.22386	0.017;0.039;0.017	T	0.36792	-0.9733	10	0.41790	T	0.15	.	3.9861	0.09516	0.1642:0.5874:0.1564:0.0919	.	798;1168;1145	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	K	1168;1145;798;755	ENSP00000442736:Q1168K;ENSP00000355378:Q1145K;ENSP00000445569:Q798K;ENSP00000441919:Q755K	ENSP00000355378:Q1145K	Q	+	1	0	PLXNB3	152692661	0.998000	0.40836	0.997000	0.53966	0.972000	0.66771	0.944000	0.29043	0.437000	0.26423	0.529000	0.55759	CAG		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			29	64	1	0	9.39395e-14	1	9.67024e-14	29	64					A	153039467	C	A	153039467	3	1	347	1	0	0	0	0	1	0	0	0	12125	595	21	4	3625	4	PLXNB3	23	153039467	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	12253628	153039467	2231093	31	33224											
SYCP1	6847	broad.mit.edu	37	chr1	115453058	115453058	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgaaaataaacaatttgAgaagattgctgaagaattaa	7	2	0	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:115453058A>G	ENST00000369522.3	+	17	1601	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	SYCP1_ENST00000369518.1_Missense_Mutation_p.E454G	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	454					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)		AAACAATTTGAGAAGATTGCT	0.284																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				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						c.(1360-1362)gAg>gGg		synaptonemal complex protein 1							49	57	54					1																	115453058		2198	4289	6487	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115453058A>G	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.1361A>G	1.37:g.115453058A>G	ENSP00000358535:p.Glu454Gly					SYCP1_ENST00000369518.1_Missense_Mutation_p.E454G	p.E454G	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		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)	17	1601	+	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)	454					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1361A>G	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751602	0.69533	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56776	0.44;0.44;0.44	5.1	5.1	0.69264	.	0.265027	0.36972	N	0.002304	T	0.60483	0.2272	M	0.67953	2.075	0.38446	D	0.946842	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.63959	-0.6519	10	0.45353	T	0.12	-10.5347	11.5624	0.50785	1.0:0.0:0.0:0.0	.	454;454	B7ZLS9;Q15431	.;SYCP1_HUMAN	G	454	ENSP00000358535:E454G;ENSP00000410011:E454G;ENSP00000358531:E454G	ENSP00000358531:E454G	E	+	2	0	SYCP1	115254581	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.752000	0.62176	2.038000	0.60285	0.383000	0.25322	GAG		0.284	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		25	47	0	0	0	1	0	25	47					G	115453058	A	G	115453058	3	3	348	1	0	0	0	0	1	0	0	0	15428	304	11	3	1423	3	SYCP1	1	115453058	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		115453058	133797563	1	33225											
TADA1	117143	broad.mit.edu	37	chr1	166831463	166831463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatagacaacagctgAaacagcctcctcggtgacat	8	13	0	3			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:166831463A>C	ENST00000367874.4	-	5	610	c.517T>G	c.(517-519)Tca>Gca	p.S173A	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	173					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ACAACAGCTGAAACAGCCTCC	0.468																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(517-519)Tca>Gca		transcriptional adaptor 1							145	122	130					1																	166831463		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166831463A>C	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.517T>G	1.37:g.166831463A>C	ENSP00000356848:p.Ser173Ala					TADA1_ENST00000467021.1_5'UTR	p.S173A	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN			5	610	-			173					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.517T>G	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320627	0.23994	.	.	ENSG00000152382	ENST00000367874	T	0.43688	0.94	5.86	4.62	0.57501	.	0.111526	0.64402	D	0.000010	T	0.10294	0.0252	N	0.19112	0.55	0.30243	N	0.794869	B	0.11235	0.004	B	0.14578	0.011	T	0.13737	-1.0498	9	0.11182	T	0.66	-18.5016	8.3002	0.32010	0.7187:0.0:0.0:0.2813	.	173	Q96BN2	TADA1_HUMAN	A	173	ENSP00000356848:S173A	ENSP00000356848:S173A	S	-	1	0	TADA1	165098087	1.000000	0.71417	0.265000	0.24526	0.847000	0.48162	4.923000	0.63412	2.367000	0.80283	0.528000	0.53228	TCA		0.468	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		40	83	0	0	0	1	0	40	83					C	166831463	A	C	166831463	3	2	348	1	0	0	0	0	1	0	0	0	15506	246	9	5	506	5	TADA1	1	166831463	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08	51378405	166831463	82419158	2	33226											
CABC1	56997	broad.mit.edu	37	chr1	227172955	227172955	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgtgcctctccccagAtcatcagggctgctgccgac	9	18	3	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:227172955A>G	ENST00000366779.1	+	19	4344	c.1573A>G	c.(1573-1575)Atc>Gtc	p.I525V	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Splice_Site_p.I246V|ADCK3_ENST00000366778.1_Splice_Site_p.I473V|ADCK3_ENST00000366777.3_Splice_Site_p.I525V|ADCK3_ENST00000433743.2_Splice_Site_p.I199V			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	525					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTCTCCCCAGATCATCAGGGC	0.622																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.e19-1		aarF domain containing kinase 3							112	109	110					1																	227172955		2203	4300	6503	SO:0001630	splice_region_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227172955A>G	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1573-1A>G	1.37:g.227172955A>G						ADCK3_ENST00000433743.2_Splice_Site_p.I199_splice|ADCK3_ENST00000366775.1_Splice_Site_p.I370_splice|ADCK3_ENST00000366776.1_Splice_Site_p.I450_splice|ADCK3_ENST00000458507.2_Splice_Site_p.I246_splice|ADCK3_ENST00000366778.1_Splice_Site_p.I473_splice|ADCK3_ENST00000366777.3_Splice_Site_p.I525_splice|ADCK3_ENST00000478406.1_3'UTR	p.I525_splice			Q8NI60	ADCK3_HUMAN			19	4344	+			525					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Splice_Site	SNP	ENST00000366779.1	37	c.1572_splice	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	A	1.969	-0.436868	0.04636	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.69	3.3	0.37823	.	0.135348	0.64402	N	0.000004	T	0.19846	0.0477	N	0.02665	-0.54	0.43708	D	0.996176	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03875	-1.0996	9	.	.	.	-21.5856	2.8959	0.05690	0.4688:0.0:0.2357:0.2954	.	199;525	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	V	525;473;525;450;246;370;476;199	ENSP00000355741:I525V;ENSP00000355740:I473V;ENSP00000355739:I525V;ENSP00000355738:I450V;ENSP00000403704:I246V;ENSP00000355737:I370V;ENSP00000404550:I199V	.	I	+	1	0	ADCK3	225239578	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.456000	0.35201	0.998000	0.38996	0.459000	0.35465	ATC		0.622	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247	Missense_Mutation	20	218	0	0	0	1	0	20	218					G	227172955	A	G	227172955	5	3	348	1	0	0	0	0	0	0	1	0	2527	347	12	3	1623	3	CABC1	1	227172955	Splice_Site	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08	60341492	227172955	22077666	3	33227											
IFIH1	64135	broad.mit.edu	37	chr2	163124612	163124612	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttgaattctggggtcAtattgacgtgatgcattttc	9	8	3	3			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr2:163124612A>T	ENST00000263642.2	-	14	3187	c.2792T>A	c.(2791-2793)aTg>aAg	p.M931K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	931					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTCTGGGGTCATATTGACGTG	0.383																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2791-2793)aTg>aAg		interferon induced with helicase C domain 1							115	114	115					2																	163124612		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163124612A>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2792T>A	2.37:g.163124612A>T	ENSP00000263642:p.Met931Lys						p.M931K	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			14	3187	-			931					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2792T>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.227103	0.39399	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.44482	0.92	4.74	3.56	0.40772	C-terminal domain of RIG-I (1);	0.261565	0.45606	D	0.000353	T	0.39200	0.1069	M	0.65975	2.015	0.34736	D	0.730258	B	0.28400	0.21	B	0.30316	0.114	T	0.50482	-0.8823	10	0.66056	D	0.02	-6.7407	6.5729	0.22549	0.764:0.157:0.079:0.0	.	931	Q9BYX4	IFIH1_HUMAN	K	931	ENSP00000263642:M931K	ENSP00000263642:M931K	M	-	2	0	IFIH1	162832858	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.782000	0.62396	0.745000	0.32763	-0.321000	0.08615	ATG		0.383	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		3	38	0	0	0	1	0	3	38					T	163124612	A	T	163124612	3	4	348	1	0	0	0	0	1	0	0	0	7520	217	8	5	297	5	IFIH1	2	163124612	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		163124612	80074761	4	33228											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	31	0	0	0	1	0	17	31					T	209113112	C	T	209113112	3	4	348	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08	45988500	209113112	34086261	5	33229											
FYCO1	79443	broad.mit.edu	37	chr3	46009504	46009504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctccaggctggcccggGcatcctctttcagctgaagc	13	15	2	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:46009504G>A	ENST00000296137.2	-	8	1527	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A441V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	441					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGGCCCGGGCATCCTCTTT	0.612																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1321-1323)gCc>gTc		FYVE and coiled-coil domain containing 1							167	178	174					3																	46009504		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009504G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1322C>T	3.37:g.46009504G>A	ENSP00000296137:p.Ala441Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A441V	p.A441V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1527	-			441					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1322C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	8.851	0.944689	0.18356	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22539	1.99;1.95	5.14	3.36	0.38483	.	0.432813	0.25590	N	0.029624	T	0.22044	0.0531	M	0.72118	2.19	0.36486	D	0.868136	B;B	0.26577	0.153;0.041	B;B	0.23018	0.043;0.025	T	0.10636	-1.0621	10	0.25751	T	0.34	-9.9355	10.2235	0.43212	0.1551:0.0:0.8449:0.0	.	441;441	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	441	ENSP00000296137:A441V;ENSP00000441178:A441V	ENSP00000296137:A441V	A	-	2	0	FYCO1	45984508	1.000000	0.71417	0.963000	0.40424	0.023000	0.10783	2.692000	0.47018	0.683000	0.31428	-0.126000	0.14955	GCC		0.612	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	472	0	0	0	1	0	5	472					A	46009504	G	A	46009504	3	1	348	1	0	0	0	0	1	0	0	0	6125	1203	42	2	3158	2	FYCO1	3	46009504	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		46009504	152012926	6	33230											
TIGIT	201633	broad.mit.edu	37	chr3	114014405	114014405	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccctaggaatgatgacaggCacaatagaaacaacggggaa	11	8	0	3	rs373334849		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:114014405C>G	ENST00000486257.1	+	3	332	c.75C>G	c.(73-75)ggC>ggG	p.G25G	TIGIT_ENST00000481065.1_Silent_p.G92G|TIGIT_ENST00000383671.3_Silent_p.G25G			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	25	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						TGATGACAGGCACAATAGAAA	0.502																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(274-276)ggC>ggG		T cell immunoreceptor with Ig and ITIM domains							148	150	149					3																	114014405		2203	4300	6503	SO:0001819	synonymous_variant	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014405C>G	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.75C>G	3.37:g.114014405C>G						TIGIT_ENST00000486257.1_Silent_p.G25G|TIGIT_ENST00000383671.3_Silent_p.G25G	p.G92G			Q495A1	TIGIT_HUMAN			3	2891	+			25			Ig-like V-type.		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	37	c.276C>G	CCDS2980.1																																																																																				0.502	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		81	188	0	0	0	1	0	81	188					G	114014405	C	G	114014405	2	3	348	1	0	0	0	0	0	0	0	1	15899	697	25	4		4	TIGIT	3	114014405	Silent	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08	68004901	114014405	84008025	7	33231											
ENPEP	2028	broad.mit.edu	37	chr4	111464025	111464025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggactcgatagctacagcGctctccttgaaccacaaggt	10	12	1	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr4:111464025G>A	ENST00000265162.5	+	12	2268	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	642					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)		TAGCTACAGCGCTCTCCTTGA	0.343																																						ENST00000265162.5																			0				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						c.(1924-1926)gcG>gcA		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						104	105	105					4																	111464025		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111464025G>A	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.1926G>A	4.37:g.111464025G>A							p.A642A	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	12	2268	+		Hepatocellular(203;0.217)	642					Q504U2	Silent	SNP	ENST00000265162.5	37	c.1926G>A	CCDS3691.1																																																																																				0.343	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			8	84	0	0	0	1	0	8	84					A	111464025	G	A	111464025	2	1	348	1	0	0	0	0	0	0	0	1	5128	1074	38	1		1	ENPEP	4	111464025	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		111464025	79690251	8	33232											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggccgttttcaggtccGcaatttcctgtaagagctta	9	10	2	1	rs375720289		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr5:147040668G>A	ENST00000265272.5	-	3	937	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	157						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)			TTTCAGGTCCGCAATTTCCTG	0.542																																						ENST00000265272.5																			0				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						c.(469-471)gCg>gTg		janus kinase and microtubule interacting protein 2		G	VAL/ALA	0,4406		0,0,2203	159	155	157		470	4.9	0.9	5		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAKMIP2	NM_014790.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/811	147040668	1,13005	2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040668G>A	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.470C>T	5.37:g.147040668G>A	ENSP00000265272:p.Ala157Val					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V	p.A157V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	937	-			157					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.470C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669603	0.29693	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.07908	3.15;3.15;3.15	4.95	4.95	0.65309	.	0.471751	0.24786	N	0.035612	T	0.06872	0.0175	N	0.22421	0.69	0.40941	D	0.984467	B;B;B;B	0.30824	0.296;0.104;0.104;0.104	B;B;B;B	0.21708	0.036;0.036;0.036;0.016	T	0.43972	-0.9358	10	0.19147	T	0.46	.	19.0736	0.93150	0.0:0.0:1.0:0.0	.	115;157;157;157	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	157;157;115;157	ENSP00000421398:A157V;ENSP00000265272:A157V;ENSP00000328989:A115V	ENSP00000265272:A157V	A	-	2	0	JAKMIP2	147020861	0.999000	0.42202	0.886000	0.34754	0.096000	0.18686	6.722000	0.74735	2.675000	0.91044	0.655000	0.94253	GCG		0.542	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		5	248	0	0	0	1	0	5	248					A	147040668	G	A	147040668	3	1	348	1	0	0	0	0	1	0	0	0	7941	1087	38	1	2038	1	JAKMIP2	5	147040668	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		147040668	33874592	9	33233											
LAMB4	22798	broad.mit.edu	37	chr7	107692592	107692592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcaatttcttcctgaAggtcttcaagtaagaggtct	8	8	5	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:107692592A>G	ENST00000388781.3	-	26	3949	c.3866T>C	c.(3865-3867)cTt>cCt	p.L1289P	LAMB4_ENST00000205386.4_Missense_Mutation_p.L1289P|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1289P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1289	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCTTCCTGAAGGTCTTCAAG	0.363																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3865-3867)cTt>cCt		laminin, beta 4							209	197	201					7																	107692592		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107692592A>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3866T>C	7.37:g.107692592A>G	ENSP00000373433:p.Leu1289Pro					LAMB4_ENST00000205386.4_Missense_Mutation_p.L1289P|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1289P	p.L1289P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			26	3949	-			1289			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3866T>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486793	0.44249	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.37235	1.21;1.21;1.52;1.24	5.23	4.05	0.47172	.	0.321133	0.22411	N	0.060401	T	0.40932	0.1137	N	0.19112	0.55	0.23795	N	0.99682	D;D	0.76494	0.998;0.999	D;D	0.74348	0.983;0.95	T	0.16247	-1.0409	10	0.44086	T	0.13	.	9.8534	0.41070	0.8473:0.0:0.0:0.1527	.	1289;1289	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	P	1289;1289;315;1289	ENSP00000205386:L1289P;ENSP00000373433:L1289P;ENSP00000416562:L315P;ENSP00000373432:L1289P	ENSP00000205386:L1289P	L	-	2	0	LAMB4	107479828	0.156000	0.22821	0.067000	0.19924	0.766000	0.43426	2.638000	0.46562	0.981000	0.38548	0.533000	0.62120	CTT		0.363	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		47	81	0	0	0	1	0	47	81					G	107692592	A	G	107692592	3	3	348	1	0	0	0	0	1	0	0	0	8613	72	3	3	1455	3	LAMB4	7	107692592	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		107692592	51446071	10	33234											
PNPLA8	50640	broad.mit.edu	37	chr7	108155548	108155548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatttgggaacttggctTaaattgagctaaacgtgaaa	9	4	0	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:108155548T>C	ENST00000422087.1	-	4	794	c.388A>G	c.(388-390)Aag>Gag	p.K130E	PNPLA8_ENST00000257694.8_Missense_Mutation_p.K130E|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Missense_Mutation_p.K130E|PNPLA8_ENST00000453144.1_Missense_Mutation_p.K30E|PNPLA8_ENST00000426128.2_Missense_Mutation_p.K130E|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K130E	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	130					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GAACTTGGCTTAAATTGAGCT	0.323																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(388-390)Aag>Gag		patatin-like phospholipase domain containing 8							57	61	59					7																	108155548		2203	4299	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155548T>C	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.388A>G	7.37:g.108155548T>C	ENSP00000410804:p.Lys130Glu					PNPLA8_ENST00000388728.5_Missense_Mutation_p.K130E|PNPLA8_ENST00000453144.1_Missense_Mutation_p.K30E|PNPLA8_ENST00000422087.1_Missense_Mutation_p.K130E|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K130E|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K130E|PNPLA8_ENST00000483879.1_Intron	p.K130E	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	513	-			130					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.388A>G	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279484	0.80692	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085;ENST00000427008	D;D;D;D;D;D;D	0.98876	-4.1;-5.2;-4.09;-5.2;-5.13;-5.2;-5.12	5.78	5.78	0.91487	.	0.139772	0.64402	D	0.000006	D	0.98915	0.9632	M	0.68952	2.095	0.49687	D	0.999818	D	0.89917	1.0	D	0.83275	0.996	D	0.99892	1.1138	10	0.87932	D	0	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	130	Q9NP80	PLPL8_HUMAN	E	130;130;130;130;30;130;30;130	ENSP00000394988:K130E;ENSP00000257694:K130E;ENSP00000373380:K130E;ENSP00000410804:K130E;ENSP00000387789:K30E;ENSP00000406779:K130E;ENSP00000402274:K30E	ENSP00000257694:K130E	K	-	1	0	PNPLA8	107942784	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.891000	0.75639	2.205000	0.71048	0.482000	0.46254	AAG		0.323	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		3	42	0	0	0	1	0	3	42					C	108155548	T	C	108155548	3	2	348	1	0	0	0	0	1	0	0	0	12171	1763	61	3	1996	3	PNPLA8	7	108155548	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08	462956	108155548	50983115	11	33235											
IFRD1	3475	broad.mit.edu	37	chr7	112112895	112112897	+	In_Frame_Del	DEL	GAA	GAA	-													gctgcaacgcttaaaacgatGaagatttctcgtttcgaaag					rs369365976		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:112112895_112112897delGAA	ENST00000403825.3	+	11	1506_1508	c.1245_1247delGAA	c.(1243-1248)atgaag>atg	p.K416del	IFRD1_ENST00000535603.1_In_Frame_Del_p.K366del|IFRD1_ENST00000005558.4_In_Frame_Del_p.K416del	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	416					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTAAAACGATGAAGATTTCTCGT	0.374																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1243-1248)atg>at		interferon-related developmental regulator 1																																				SO:0001651	inframe_deletion	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112895_112112897delGAA	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1245_1247delGAA	7.37:g.112112895_112112897delGAA	ENSP00000384477:p.Lys416del					IFRD1_ENST00000005558.4_In_Frame_Del_p.MK415del|IFRD1_ENST00000535603.1_In_Frame_Del_p.MK365del	p.MK415del	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			11	1506_1508	+			415					B7Z5G1|O75234|Q5U013|Q9BVE4	In_Frame_Del	DEL	ENST00000403825.3	37	c.1245_1247delGAA	CCDS34736.1																																																																																				0.374	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		24	80						24	80	---	---	---	---	-	112112897	GAA	-	112112895	7	5	348	1	0	1	0	1	0	0	0	0	7553	1290	45	0	1287	0	IFRD1	7	112112895	In_Frame_Del	DEL	GAA	TCGA-HW-A5KM-01A-11D-A27K-08	3957347	112112895	47025768	12	33236											
BAI1	575	broad.mit.edu	37	chr8	143570707	143570707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttgcaggaacacgaccGtcctgaattctaaggtgatc	10	11	2	2	rs371147537	byFrequency	TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr8:143570707G>A	ENST00000517894.1	+	16	3433	c.2539G>A	c.(2539-2541)Gtc>Atc	p.V847I	BAI1_ENST00000323289.5_Missense_Mutation_p.V847I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	847					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAACACGACCGTCCTGAATTC	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		14130	0.002		0.0	False		,,,				2504	0.0					ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2539-2541)Gtc>Atc		brain-specific angiogenesis inhibitor 1		G	ILE/VAL	1,4081		0,1,2040	90	99	96		2539	4.8	0.8	8		96	0,8362		0,0,4181	no	missense	BAI1	NM_001702.2	29	0,1,6221	AA,AG,GG		0.0,0.0245,0.0080	probably-damaging	847/1585	143570707	1,12443	2041	4181	6222	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143570707G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2539G>A	8.37:g.143570707G>A	ENSP00000430945:p.Val847Ile					BAI1_ENST00000323289.5_Missense_Mutation_p.V847I	p.V847I			O14514	BAI1_HUMAN			16	3433	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		847						Missense_Mutation	SNP	ENST00000517894.1	37	c.2539G>A		.	.	.	.	.	.	.	.	.	.	G	12.02	1.812879	0.32053	2.45E-4	0.0	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.10005	2.92;2.92	4.76	4.76	0.60689	.	0.174966	0.36303	U	0.002669	T	0.11836	0.0288	M	0.65498	2.005	0.41841	D	0.990124	P	0.48834	0.916	B	0.37015	0.239	T	0.24476	-1.0159	10	0.13853	T	0.58	.	15.2389	0.73452	0.0:0.0:1.0:0.0	.	847	E9PBK0	.	I	847	ENSP00000430945:V847I;ENSP00000313046:V847I	ENSP00000313046:V847I	V	+	1	0	BAI1	143567709	1.000000	0.71417	0.822000	0.32727	0.122000	0.20287	3.753000	0.55180	2.168000	0.68352	0.462000	0.41574	GTC		0.627	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	122	0	0	0	1	0	4	122					A	143570707	G	A	143570707	3	1	348	1	0	0	0	0	1	0	0	0	1298	1145	40	1	2597	1	BAI1	8	143570707	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		143570707	2793315	13	33237											
ZNF169	169841	broad.mit.edu	37	chr9	97063233	97063233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgccctgattgtgggCgtggctttggtcagaaggtc	15	9	1	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr9:97063233C>T	ENST00000395395.2	+	5	1483	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	465					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)				TGATTGTGGGCGTGGCTTTGG	0.577																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1393-1395)Cgt>Tgt		zinc finger protein 169							70	65	67					9																	97063233		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063233C>T	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.1393C>T	9.37:g.97063233C>T	ENSP00000378792:p.Arg465Cys					ZNF169_ENST00000340911.4_3'UTR	p.R465C	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	1483	+		Acute lymphoblastic leukemia(62;0.136)	465					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.1393C>T	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997898	0.54147	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.19806	2.12	2.83	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31670	0.0804	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.87932	D	0	.	3.5665	0.07901	0.246:0.6176:0.0:0.1364	.	465	Q14929	ZN169_HUMAN	C	465;274	ENSP00000378792:R465C	ENSP00000340711:R274C	R	+	1	0	ZNF169	96103054	0.930000	0.31532	0.997000	0.53966	0.933000	0.57130	1.497000	0.35649	0.774000	0.33427	-0.199000	0.12753	CGT		0.577	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		35	63	0	0	0	1	0	35	63					T	97063233	C	T	97063233	3	4	348	1	0	0	0	0	1	0	0	0	17739	768	27	1	1407	1	ZNF169	9	97063233	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		97063233	44150198	14	33238											
SLC6A5	9152	broad.mit.edu	37	chr11	20628628	20628628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttggaggtgtcgctggGccagtttgccagccagggac	15	11	1	0			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:20628628G>A	ENST00000525748.1	+	4	1028	c.755G>A	c.(754-756)gGc>gAc	p.G252D		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	252					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTCGCTGGGCCAGTTTGCC	0.567																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(754-756)gGc>gAc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						100	89	93					11																	20628628		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20628628G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.755G>A	11.37:g.20628628G>A	ENSP00000434364:p.Gly252Asp						p.G252D	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			4	1028	+			252					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.755G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655005	0.88056	.	.	ENSG00000165970	ENST00000525748	D	0.97924	-4.61	5.55	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98696	1.0698	10	0.87932	D	0	.	15.6924	0.77464	0.0:0.0:0.8617:0.1383	.	252	Q9Y345	SC6A5_HUMAN	D	252	ENSP00000434364:G252D	ENSP00000434364:G252D	G	+	2	0	SLC6A5	20585204	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	1.458000	0.47871	-0.181000	0.13052	GGC		0.567	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		26	52	0	0	0	1	0	26	52					A	20628628	G	A	20628628	3	1	348	1	0	0	0	0	1	0	0	0	14687	1203	42	2	769	2	SLC6A5	11	20628628	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		20628628	114377888	15	33239											
SORL1	6653	broad.mit.edu	37	chr11	121428040	121428040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtagctaatccagatggCgacttccgactcacaatcgt	9	12	1	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:121428040C>T	ENST00000260197.7	+	19	2718	c.2589C>T	c.(2587-2589)ggC>ggT	p.G863G		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	863					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)		ATCCAGATGGCGACTTCCGAC	0.522																																						ENST00000260197.7																			0				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						c.(2587-2589)ggC>ggT		sortilin-related receptor, L(DLR class) A repeats containing							173	152	159					11																	121428040		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121428040C>T	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.2589C>T	11.37:g.121428040C>T							p.G863G	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	19	2718	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	863					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.2589C>T	CCDS8436.1																																																																																				0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		5	128	0	0	0	1	0	5	128					T	121428040	C	T	121428040	2	4	348	1	0	0	0	0	0	0	0	1	14934	755	27	1		1	SORL1	11	121428040	Silent	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08	100799412	121428040	13578476	16	33240											
TPTE2	93492	broad.mit.edu	37	chr13	20077367	20077367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgcataactcaccttTcattcatacgtgcctctggg	7	11	4	0			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:20077367T>C	ENST00000400230.2	-	1	52	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE2_ENST00000255310.6_Missense_Mutation_p.E3G|TPTE2_ENST00000382975.4_Missense_Mutation_p.E3G|TPTE2_ENST00000382977.4_Missense_Mutation_p.E3G|TPTE2_ENST00000400103.2_Missense_Mutation_p.E3G|TPTE2_ENST00000457266.2_Missense_Mutation_p.E3G|TPTE2_ENST00000390680.2_Missense_Mutation_p.E3G|TPTE2_ENST00000382978.1_Missense_Mutation_p.E3G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	3					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AACTCACCTTTCATTCATACG	0.368																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(7-9)gAa>gGa		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							169	136	147					13																	20077367		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20077367T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.8A>G	13.37:g.20077367T>C	ENSP00000383089:p.Glu3Gly					TPTE2_ENST00000255310.6_Missense_Mutation_p.E3G|TPTE2_ENST00000457266.2_Missense_Mutation_p.E3G|TPTE2_ENST00000400103.2_Missense_Mutation_p.E3G|TPTE2_ENST00000390680.2_Missense_Mutation_p.E3G|TPTE2_ENST00000382977.4_Missense_Mutation_p.E3G|TPTE2_ENST00000382978.1_Missense_Mutation_p.E3G|TPTE2_ENST00000382975.4_Missense_Mutation_p.E3G	p.E3G			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	1	52	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	3					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.8A>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	6.030	0.373840	0.11409	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000419256	D;D;D;D;D;D;D;D	0.95853	-3.75;-3.83;-3.54;-3.75;-3.75;-3.54;-3.75;-3.83	0.743	0.743	0.18347	.	.	.	.	.	D	0.90270	0.6957	L	0.36672	1.1	0.18873	N	0.999981	B;B;B	0.16603	0.015;0.006;0.018	B;B;B	0.16289	0.004;0.015;0.01	T	0.79522	-0.1769	7	.	.	.	.	.	.	.	.	3;3;3	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	G	3	ENSP00000372438:E3G;ENSP00000382974:E3G;ENSP00000383089:E3G;ENSP00000255310:E3G;ENSP00000375098:E3G;ENSP00000372437:E3G;ENSP00000372435:E3G;ENSP00000442218:E3G	.	E	-	2	0	TPTE2	18975367	0.003000	0.15002	0.023000	0.16930	0.026000	0.11368	1.128000	0.31369	0.576000	0.29452	0.358000	0.22013	GAA		0.368	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	31	0	0	0	1	0	3	31					C	20077367	T	C	20077367	3	2	348	1	0	0	0	0	1	0	0	0	16428	1783	62	3	1640	3	TPTE2	13	20077367	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		20077367	95092511	17	33241											
ABCC4	10257	broad.mit.edu	37	chr13	95840746	95840746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaccacagctaacaattcGccaggtctgacagtaaagga	9	12	1	1	rs150945397		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:95840746G>A	ENST00000376887.4	-	10	1428	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G|ABCC4_ENST00000431522.1_Silent_p.G438G|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	438	ABC transporter 1. {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)	CTAACAATTCGCCAGGTCTGA	0.453																																						ENST00000376887.4																			0				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						c.(1312-1314)ggC>ggT		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)	G	,	2,4404	4.2+/-10.8	0,2,2201	121	115	117		1314,1314	-10.4	0.1	13	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCC4	NM_001105515.1,NM_005845.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	438/860,438/1326	95840746	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95840746G>A	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.1314C>T	13.37:g.95840746G>A						ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Silent_p.G438G	p.G438G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			10	1428	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		438			ABC transporter 1.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.1314C>T	CCDS9474.1																																																																																				0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		50	92	0	0	0	1	0	50	92					A	95840746	G	A	95840746	2	1	348	1	0	0	0	0	0	0	0	1	55	1074	38	1		1	ABCC4	13	95840746	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	75763379	95840746	19329132	18	33242											
SPTB	6710	broad.mit.edu	37	chr14	65263325	65263325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtctctctcattgcggCcttccggtcaaagcgccggg	12	15	3	0			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr14:65263325C>A	ENST00000389721.5	-	10	1323	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	SPTB_ENST00000556626.1_Missense_Mutation_p.A431S|SPTB_ENST00000389722.3_Missense_Mutation_p.A431S|SPTB_ENST00000542895.1_Missense_Mutation_p.A431S|SPTB_ENST00000389720.3_Missense_Mutation_p.A431S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	431					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)		CTCATTGCGGCCTTCCGGTCA	0.587																																						ENST00000389722.3																			0				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						c.(1291-1293)Gcc>Tcc		spectrin, beta, erythrocytic							70	70	70					14																	65263325		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65263325C>A		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.1291G>T	14.37:g.65263325C>A	ENSP00000374371:p.Ala431Ser					SPTB_ENST00000389720.3_Missense_Mutation_p.A431S|SPTB_ENST00000389721.5_Missense_Mutation_p.A431S|SPTB_ENST00000542895.1_Missense_Mutation_p.A431S|SPTB_ENST00000556626.1_Missense_Mutation_p.A431S	p.A431S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	10	1344	-		all_lung(585;4.15e-09)	431					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1291G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	36	5.638906	0.96693	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.82132	2.575	0.80722	D	1	D;D	0.61697	0.971;0.99	P;P	0.59546	0.856;0.859	T	0.78607	-0.2138	10	0.87932	D	0	.	18.8548	0.92247	0.0:1.0:0.0:0.0	.	431;435	P11277;Q59FP5	SPTB1_HUMAN;.	S	435;431;431;431;431;431	ENSP00000374372:A431S;ENSP00000451752:A431S;ENSP00000374371:A431S;ENSP00000443882:A431S;ENSP00000374370:A431S	ENSP00000374370:A431S	A	-	1	0	SPTB	64333078	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	7.792000	0.85828	2.756000	0.94617	0.655000	0.94253	GCC		0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	94	1	0	0.00909568	1	0.00930721	4	94					A	65263325	C	A	65263325	3	1	348	1	0	0	0	0	1	0	0	0	15117	739	26	4	5868	4	SPTB	14	65263325	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		65263325	42086215	19	33243											
C14orf73	91828	broad.mit.edu	37	chr14	103568919	103568919	+	Frame_Shift_Del	DEL	C	C	-													ccgagctgggtggcttggttCgccgcgacctgcagaaggtg							TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr14:103568919delC	ENST00000380069.3	+	2	935	c.859delC	c.(859-861)cgcfs	p.R288fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	288					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGGCTTGGTTCGCCGCGACCT	0.736																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(859-861)gcfs		exocyst complex component 3-like 4							5	7	6					14																	103568919		1948	3864	5812	SO:0001589	frameshift_variant	91828							g.chr14:103568919delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.859delC	14.37:g.103568919delC	ENSP00000369409:p.Arg288fs						p.R288fs	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			2	935	+			288					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.859delC	CCDS32163.1																																																																																				0.736	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		2	4						2	4	---	---	---	---	-	103568919	C	-	103568919	7	5	348	1	0	1	0	1	0	0	0	0	1779	884	31	0	865	0	C14orf73	14	103568919	Frame_Shift_Del	DEL	C	TCGA-HW-A5KM-01A-11D-A27K-08	38305594	103568919	3780621	20	33244											
ATP10A	57194	broad.mit.edu	37	chr15	25963417	25963417	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccggtgggacttggtgCtctgggttctgtgcaccacc	15	12	2	0	rs550885943	byFrequency	TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr15:25963417C>G	ENST00000356865.6	-	8	1604	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	498					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)		GGACTTGGTGCTCTGGGTTCT	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		14818	0.0		0.0	False		,,,				2504	0.002					ENST00000356865.6																			0				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						c.(1492-1494)aGc>aCc		ATPase, class V, type 10A							34	33	33					15																	25963417		2200	4299	6499	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25963417C>G	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.1493G>C	15.37:g.25963417C>G	ENSP00000349325:p.Ser498Thr						p.S498T	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	8	1604	-		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)	498					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1493G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892467	0.33442	.	.	ENSG00000206190	ENST00000356865	T	0.11712	2.75	5.14	4.16	0.48862	HAD-like domain (1);	0.089210	0.85682	D	0.000000	T	0.17619	0.0423	M	0.78049	2.395	0.38917	D	0.957659	P	0.36837	0.571	B	0.42959	0.403	T	0.02603	-1.1135	10	0.22109	T	0.4	-31.5793	10.4036	0.44243	0.0:0.7894:0.1353:0.0753	.	498	O60312	AT10A_HUMAN	T	498	ENSP00000349325:S498T	ENSP00000349325:S498T	S	-	2	0	ATP10A	23514510	1.000000	0.71417	0.571000	0.28486	0.069000	0.16628	4.683000	0.61679	2.382000	0.81193	0.655000	0.94253	AGC		0.687	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		28	40	0	0	0	1	0	28	40					G	25963417	C	G	25963417	3	3	348	1	0	0	0	0	1	0	0	0	1116	797	28	4	3062	4	ATP10A	15	25963417	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		25963417	76567975	21	33245											
ZFHX3	463	broad.mit.edu	37	chr16	72829832	72829832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccctcagctggtagtccGtaaaccttgttcttgaagac	9	11	2	3			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr16:72829832G>A	ENST00000268489.5	-	9	7421	c.6749C>T	c.(6748-6750)aCg>aTg	p.T2250M	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1336M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2250					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)				CTGGTAGTCCGTAAACCTTGT	0.507																																						ENST00000268489.5																			0				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						c.(6748-6750)aCg>aTg		zinc finger homeobox 3							185	172	177					16																	72829832		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829832G>A	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.6749C>T	16.37:g.72829832G>A	ENSP00000268489:p.Thr2250Met					ZFHX3_ENST00000397992.5_Missense_Mutation_p.T1336M	p.T2250M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7421	-		Ovarian(137;0.13)	2250					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6749C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125428	0.56721	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97016	-4.21;-4.21	5.79	5.79	0.91817	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.51477	D	0.000089	D	0.98811	0.9599	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99069	1.0833	10	0.62326	D	0.03	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	2250	Q15911	ZFHX3_HUMAN	M	2250;1336	ENSP00000268489:T2250M;ENSP00000438926:T1336M	ENSP00000268489:T2250M	T	-	2	0	ZFHX3	71387333	1.000000	0.71417	0.735000	0.30896	0.789000	0.44602	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	ACG		0.507	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	221	0	0	0	1	0	4	221					A	72829832	G	A	72829832	3	1	348	1	0	0	0	0	1	0	0	0	17631	1145	40	1	4370	1	ZFHX3	16	72829832	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		72829832	17524921	22	33246											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	11	0	0	0	1	0	33	11					A	7577121	G	A	7577121	3	1	348	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		7577121	73618089	23	33247											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcttacttggttccgtatcGatccctgaagaacatatgct	9	10	0	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:34499227G>A	ENST00000454519.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562																																						ENST00000454519.3																			0				endometrium(2)|lung(3)|pancreas(1)	6						c.(484-486)Cga>Tga		TBC1 domain family, member 3B							78	60	66					17																	34499227		2138	4143	6281	SO:0001587	stop_gained	414059					intracellular	Rab GTPase activator activity	g.chr17:34499227G>A	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"TBC1 domain family, member 3I"	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.484C>T	17.37:g.34499227G>A	ENSP00000390852:p.Arg162*					CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*	p.R162*	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	633	-		Breast(25;0.102)|Ovarian(249;0.17)	162			Rab-GAP TBC.		A8K892	Nonsense_Mutation	SNP	ENST00000454519.3	37	c.484C>T	CCDS42300.1	.	.	.	.	.	.	.	.	.	.	.	40	7.958604	0.98583	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	.	.	.	.	.	.	.	0.067778	0.64402	U	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	162	.	ENSP00000340678:R162X	R	-	1	2	TBC1D3B	31523340	1.000000	0.71417	0.043000	0.18650	0.043000	0.13939	3.252000	0.51461	0.107000	0.17824	0.109000	0.15622	CGA		0.562	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		100	748	0	0	0	1	0	100	748					A	34499227	G	A	34499227	4	1	348	1	0	0	0	0	0	1	0	0	15617	1066	37	1	1197	1	TBC1D3B	17	34499227	Nonsense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	26922106	34499227	46695983	24	33248											
FMNL1	752	broad.mit.edu	37	chr17	43323638	43323640	+	In_Frame_Del	DEL	AGA	AGA	-													tgagctgaaacggaggcagcAgaaggagccactcatttatg					rs200730343		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:43323638_43323640delAGA	ENST00000331495.3	+	25	3488_3490	c.3152_3154delAGA	c.(3151-3156)cagaag>cag	p.K1052del	MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_In_Frame_Del_p.K630del|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000328118.3_In_Frame_Del_p.K1052del|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000591361.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1052					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						CGGAGGCAGCAGAAGGAGCCACT	0.567																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				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						c.(3151-3156)cag>c		formin-like 1																																				SO:0001651	inframe_deletion	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43323638_43323640delAGA	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.3152_3154delAGA	17.37:g.43323638_43323640delAGA	ENSP00000329219:p.Lys1052del					CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_In_Frame_Del_p.QK629del|FMNL1_ENST00000328118.3_In_Frame_Del_p.QK1051del	p.QK1051del	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			25	3488_3490	+			1051					D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	In_Frame_Del	DEL	ENST00000331495.3	37	c.3152_3154delAGA	CCDS11497.1																																																																																				0.567	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		64	127						64	127	---	---	---	---	-	43323640	AGA	-	43323638	7	5	348	1	0	1	0	1	0	0	0	0	5951	188	7	0	3250	0	FMNL1	17	43323638	In_Frame_Del	DEL	AGA	TCGA-HW-A5KM-01A-11D-A27K-08	8824411	43323638	37871572	25	33249											
CASKIN2	57513	broad.mit.edu	37	chr17	73497957	73497957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccagacctggccctggGcagggcggcactggaggctg	16	13	0	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:73497957G>A	ENST00000321617.3	-	18	3784	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	CASKIN2_ENST00000433559.2_Silent_p.C984C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1066	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)			CTGGCCCTGGGCAGGGCGGCA	0.682																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3196-3198)tgC>tgT		CASK interacting protein 2							43	54	51					17																	73497957		2201	4289	6490	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73497957G>A	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.3198C>T	17.37:g.73497957G>A						CASKIN2_ENST00000433559.2_Silent_p.C984C	p.C1066C	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3784	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1066			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.3198C>T	CCDS11723.1																																																																																				0.682	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	171	0	0	0	1	0	4	171					A	73497957	G	A	73497957	2	1	348	1	0	0	0	0	0	0	0	1	2667	1195	42	2		2	CASKIN2	17	73497957	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	30174319	73497957	7697253	26	33250											
FIZ1	84922	broad.mit.edu	37	chr19	56109002	56109002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagagcagcggtagggcCgctccccggtgtgcgagcgc	18	13	0	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:56109002C>T	ENST00000221665.3	-	2	319	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	FIZ1_ENST00000592585.1_Intron|ZNF524_ENST00000301073.3_5'Flank	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	77					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)		GCGGTAGGGCCGCTCCCCGGT	0.692																																						ENST00000221665.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(229-231)cGg>cAg		FLT3-interacting zinc finger 1							43	39	40					19																	56109002		2203	4300	6503	SO:0001583	missense	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56109002C>T	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.230G>A	19.37:g.56109002C>T	ENSP00000221665:p.Arg77Gln					FIZ1_ENST00000592585.1_Intron	p.R77Q	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	2	319	-			77					A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	c.230G>A	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343175	0.61073	.	.	ENSG00000179943	ENST00000221665	T	0.19806	2.12	3.57	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34774	0.0909	L	0.49350	1.555	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.08249	-1.0731	9	0.87932	D	0	-16.4839	10.1581	0.42836	0.0:0.8951:0.0:0.1049	.	77	Q96SL8	FIZ1_HUMAN	Q	77	ENSP00000221665:R77Q	ENSP00000221665:R77Q	R	-	2	0	FIZ1	60800814	0.296000	0.24398	0.999000	0.59377	0.982000	0.71751	0.830000	0.27462	0.841000	0.35020	0.462000	0.41574	CGG		0.692	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		41	51	0	0	0	1	0	41	51					T	56109002	C	T	56109002	3	4	348	1	0	0	0	0	1	0	0	0	5900	652	23	1	1268	1	FIZ1	19	56109002	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		56109002	3019981	27	33251											
TPTE	7179	broad.mit.edu	37	chr21	10973726	10973726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtacgcataactcaccttTcattcatacgtgcctctggg	7	13	4	0			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr21:10973726T>C	ENST00000361285.4	-	4	337	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE_ENST00000298232.7_Missense_Mutation_p.E3G|TPTE_ENST00000342420.5_Missense_Mutation_p.E3G|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	3					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACTCACCTTTCATTCATACG	0.378																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(7-9)gAa>gGa		transmembrane phosphatase with tensin homology							259	223	235					21																	10973726		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10973726T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.8A>G	21.37:g.10973726T>C	ENSP00000355208:p.Glu3Gly					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E3G|TPTE_ENST00000361285.4_Missense_Mutation_p.E3G	p.E3G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	375	-			3					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.8A>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	T	7.499	0.652251	0.14580	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.95885	-3.77;-3.61;-3.84	1.83	0.588	0.17445	.	.	.	.	.	D	0.87688	0.6240	N	0.22421	0.69	0.19300	N	0.999974	P;B;P	0.37233	0.549;0.048;0.588	B;B;B	0.28232	0.087;0.017;0.04	T	0.80520	-0.1346	9	0.72032	D	0.01	.	4.7159	0.12894	0.0:0.0:0.333:0.667	.	3;3;3	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	G	3	ENSP00000298232:E3G;ENSP00000355208:E3G;ENSP00000344441:E3G	ENSP00000298232:E3G	E	-	2	0	TPTE	9995597	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.171000	0.09883	0.165000	0.19558	-0.847000	0.03039	GAA		0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			20	79	0	0	0	1	0	20	79					C	10973726	T	C	10973726	3	2	348	1	0	0	0	0	1	0	0	0	16427	1783	62	3	1731	3	TPTE	21	10973726	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		10973726	37156169	28	33252											
ARVCF	421	broad.mit.edu	37	chr22	19961288	19961288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagcccgcgctctttgCgcactgtggcgcggatgtac	14	15	1	0	rs371370931	byFrequency	TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr22:19961288C>T	ENST00000263207.3	-	13	2408	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	ARVCF_ENST00000344269.3_Missense_Mutation_p.R643H|ARVCF_ENST00000406259.1_Missense_Mutation_p.R700H|ARVCF_ENST00000406522.1_Missense_Mutation_p.R637H|ARVCF_ENST00000401994.1_Missense_Mutation_p.R643H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	706					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)					GCGCTCTTTGCGCACTGTGGC	0.662													C|||	8	0.00159744	0.0	0.0	5008	,	,		17159	0.0		0.0	False		,,,				2504	0.0082					ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2116-2118)cGc>cAc		armadillo repeat gene deleted in velocardiofacial syndrome							66	64	64					22																	19961288		2203	4299	6502	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19961288C>T		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.2117G>A	22.37:g.19961288C>T	ENSP00000263207:p.Arg706His					ARVCF_ENST00000406522.1_Missense_Mutation_p.R637H|ARVCF_ENST00000406259.1_Missense_Mutation_p.R700H|ARVCF_ENST00000401994.1_Missense_Mutation_p.R643H|ARVCF_ENST00000344269.3_Missense_Mutation_p.R643H	p.R706H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			13	2408	-	Colorectal(54;0.0993)		706					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2117G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182720	0.94885	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.66	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75147	-0.3420	9	.	.	.	-20.1326	12.3096	0.54922	0.0:0.9153:0.0:0.0847	.	706;222	O00192;E7EV58	ARVC_HUMAN;.	H	706;643;643;637;700	ENSP00000263207:R706H;ENSP00000342042:R643H;ENSP00000384341:R643H;ENSP00000384732:R637H;ENSP00000385444:R700H	.	R	-	2	0	ARVCF	18341288	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.582000	0.82546	1.317000	0.45149	0.491000	0.48974	CGC		0.662	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		4	129	0	0	0	1	0	4	129					T	19961288	C	T	19961288	3	4	348	1	0	0	0	0	1	0	0	0	1003	768	27	1	799	1	ARVCF	22	19961288	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		19961288	31343278	29	33253											
ATRX	546	broad.mit.edu	37	chrX	76937664	76937697	+	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-													atttgttttatgcccttaggAaaatgacaaatttcttctcg					rs367700285		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chrX:76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	ENST00000373344.5	-	9	3265_3298	c.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	c.(3049-3084)gaaaagttacctgagcgagaagaaatttgtcattttfs	p.EKLPEREEICHF1017fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EKLPEREEICHF979fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1017					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						TGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCAT	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3049-3084)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	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.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	X.37:g.76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	ENSP00000362441:p.Glu1017fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EKLPEREEICHF979fs	p.EKLPEREEICHF1017fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3265_3298	-			1017					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	CCDS14434.1																																																																																				0.303	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	10						7	10	---	---	---	---	-	76937697	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-	76937664	7	5	348	1	0	1	0	1	0	0	0	0	1208	243	9	0	4502	0	ATRX	23	76937664	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	TCGA-HW-A5KM-01A-11D-A27K-08		76937664	78332896	30	33254											
NOTCH2	4853	broad.mit.edu	37	chr1	120468319	120468319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actggcacagcctgactcgcAgtcccggggactggggcaga	15	13	0	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	ENST00000256646.2	-	25	4339	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1374	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGACTCGCAGTCCCGGGGA	0.642			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4120-4122)Tgc>Agc		notch 2							25	24	25					1																	120468319		2203	4293	6496	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120468319A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4120T>A	1.37:g.120468319A>T	ENSP00000256646:p.Cys1374Ser						p.C1374S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4339	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1374			EGF-like 35.		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4120T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869245	0.32977	.	.	ENSG00000134250	ENST00000256646	D	0.83591	-1.74	5.94	5.94	0.96194	.	0.000000	0.41396	U	0.000894	T	0.71350	0.3329	L	0.54323	1.7	0.80722	D	1	B	0.30824	0.296	B	0.22753	0.041	T	0.74685	-0.3582	10	0.54805	T	0.06	.	15.5759	0.76387	1.0:0.0:0.0:0.0	.	1374	Q04721	NOTC2_HUMAN	S	1374	ENSP00000256646:C1374S	ENSP00000256646:C1374S	C	-	1	0	NOTCH2	120269842	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	8.919000	0.92770	2.272000	0.75746	0.459000	0.35465	TGC		0.642	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		22	18	0	0	0	1	0	22	18					T	120468319	A	T	120468319	3	4	349	1	0	0	0	0	1	0	0	0	10548	188	7	5	3335	5	NOTCH2	1	120468319	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		120468319	128782302	1	33255											
SFT2D2	375035	broad.mit.edu	37	chr1	168205989	168205989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttatcttctgcattttgCagtctttggcattgacgtgg	9	9	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	ENST00000271375.4	+	6	466	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C|SFT2D2_ENST00000367825.3_Silent_p.C104C	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(394-396)Cag>Tag		SFT2 domain containing 2							242	235	238					1																	168205989		2203	4300	6503	SO:0001587	stop_gained	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168205989C>T	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.394C>T	1.37:g.168205989C>T	ENSP00000271375:p.Gln132*					SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C|SFT2D2_ENST00000367825.3_Silent_p.C104C	p.Q132*	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			6	466	+	all_hematologic(923;0.215)		132						Nonsense_Mutation	SNP	ENST00000271375.4	37	c.394C>T	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622529	0.87460	.	.	ENSG00000213064	ENST00000271375	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8493	15.614	0.76750	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000271375:Q132X	Q	+	1	0	SFT2D2	166472613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.141000	0.71744	2.414000	0.81942	0.650000	0.86243	CAG		0.403	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		112	148	0	0	0	1	0	112	148					T	168205989	C	T	168205989	4	4	349	1	0	0	0	0	0	1	0	0	14186	711	25	2	416	2	SFT2D2	1	168205989	Nonsense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	47737670	168205989	81044632	2	33256											
TPR	7175	broad.mit.edu	37	chr1	186292829	186292829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaatacctgaactggtgGtcccaactcctgaggtgggg	12	9	0	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	ENST00000367478.4	-	43	6582	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2096					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)		TGAACTGGTGGTCCCAACTCC	0.463			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				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						c.(6286-6288)Cca>Tca		translocated promoter region, nuclear basket protein							121	123	122					1																	186292829		1887	4126	6013	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186292829G>A	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.6286C>T	1.37:g.186292829G>A	ENSP00000356448:p.Pro2096Ser						p.P2096S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	43	6582	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2096					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6286C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313159	0.81358	.	.	ENSG00000047410	ENST00000367478	T	0.36157	1.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64567	-0.6377	10	0.87932	D	0	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	2096	P12270	TPR_HUMAN	S	2096	ENSP00000356448:P2096S	ENSP00000356448:P2096S	P	-	1	0	TPR	184559452	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	6.719000	0.74718	2.673000	0.90976	0.650000	0.86243	CCA		0.463	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		80	133	0	0	0	1	0	80	133					A	186292829	G	A	186292829	3	1	349	1	0	0	0	0	1	0	0	0	16413	1261	44	2	841	2	TPR	1	186292829	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	18086840	186292829	62957792	3	33257											
SPATA17	128153	broad.mit.edu	37	chr1	217915355	217915355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatgaaagaaagagAagagaagaaggctaacctcg	12	5	0	6			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	ENST00000366933.4	+	6	489	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	145						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(433-435)gAa>gGa		spermatogenesis associated 17							127	118	121					1																	217915355		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217915355A>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.434A>G	1.37:g.217915355A>G	ENSP00000355900:p.Glu145Gly						p.E145G	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	6	489	+			145					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.434A>G	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765999	0.90020	.	.	ENSG00000162814	ENST00000366933	T	0.53857	0.6	5.84	5.84	0.93424	.	0.051449	0.85682	D	0.000000	T	0.71409	0.3336	M	0.80847	2.515	0.45899	D	0.998748	D	0.67145	0.996	P	0.60236	0.871	T	0.76033	-0.3107	10	0.72032	D	0.01	-4.5609	15.8903	0.79293	1.0:0.0:0.0:0.0	.	145	Q96L03	SPT17_HUMAN	G	145	ENSP00000355900:E145G	ENSP00000355900:E145G	E	+	2	0	SPATA17	215981978	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.077000	0.64419	2.223000	0.72356	0.533000	0.62120	GAA		0.403	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		32	28	0	0	0	1	0	32	28					G	217915355	A	G	217915355	3	3	349	1	0	0	0	0	1	0	0	0	15001	246	9	3	456	3	SPATA17	1	217915355	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	31622526	217915355	31335266	4	33258											
TRIM58	25893	broad.mit.edu	37	chr1	248039522	248039522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacatggtccttgcctccCcatcagtgcctcttctccaa	6	16	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	ENST00000366481.3	+	6	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(1192-1194)Cca>Tca		tripartite motif containing 58							140	143	142					1																	248039522		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039522C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1192C>T	1.37:g.248039522C>T	ENSP00000355437:p.Pro398Ser					OR2W3_ENST00000537741.1_Intron	p.P398S	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1240	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	398			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1192C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	3.676	-0.066469	0.07273	.	.	ENSG00000162722	ENST00000366481	T	0.69435	-0.4	4.05	3.13	0.36017	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.225320	0.31809	N	0.007035	T	0.66538	0.2799	L	0.35487	1.065	0.40730	D	0.982732	D	0.56521	0.976	P	0.59357	0.856	T	0.65146	-0.6239	10	0.45353	T	0.12	.	9.2219	0.37382	0.0:0.8111:0.0:0.1889	.	398	Q8NG06	TRI58_HUMAN	S	398	ENSP00000355437:P398S	ENSP00000355437:P398S	P	+	1	0	TRIM58	246106145	0.348000	0.24861	0.035000	0.18076	0.006000	0.05464	2.089000	0.41672	0.688000	0.31529	-0.813000	0.03139	CCA		0.512	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		24	165	0	0	0	1	0	24	165					T	248039522	C	T	248039522	3	4	349	1	0	0	0	0	1	0	0	0	16528	623	22	2	1214	2	TRIM58	1	248039522	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	30124167	248039522	1211099	5	33259											
OR2L2	26246	broad.mit.edu	37	chr1	248202456	248202456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgagaaacaaggaggTgatgggggccctgacacaag	15	9	0	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	ENST00000366479.2	+	1	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	296						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(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(886-888)gTg>gCg		olfactory receptor, family 2, subfamily L, member 2							77	76	76					1																	248202456		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202456T>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.887T>C	1.37:g.248202456T>C	ENSP00000355435:p.Val296Ala					OR2L13_ENST00000366478.2_Intron	p.V296A	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	983	+	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)		296					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.887T>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	15.20	2.761779	0.49468	.	.	ENSG00000203663	ENST00000366479	T	0.39592	1.07	1.9	1.9	0.25705	.	.	.	.	.	T	0.59101	0.2169	M	0.71296	2.17	0.30453	N	0.775028	D	0.89917	1.0	D	0.74348	0.983	T	0.57763	-0.7755	9	0.87932	D	0	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	296	Q8NH16	OR2L2_HUMAN	A	296	ENSP00000355435:V296A	ENSP00000355435:V296A	V	+	2	0	OR2L2	246269079	0.357000	0.24938	0.976000	0.42696	0.587000	0.36485	3.797000	0.55514	0.746000	0.32786	0.163000	0.16589	GTG		0.463	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		60	73	0	0	0	1	0	60	73					C	248202456	T	C	248202456	3	2	349	1	0	0	0	0	1	0	0	0	11007	1696	59	3	889	3	OR2L2	1	248202456	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	162934	248202456	1048165	6	33260											
COL5A2	1290	broad.mit.edu	37	chr2	189933563	189933563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagtttcacctctctgCccctgaggaccttcagggcc	10	17	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	ENST00000374866.3	-	19	1480	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	402					axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1204-1206)ggG>ggA		collagen, type V, alpha 2							30	36	34					2																	189933563		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189933563C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1206G>A	2.37:g.189933563C>T							p.G402G	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		19	1480	-			402					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1206G>A	CCDS33350.1																																																																																				0.502	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		17	26	0	0	0	1	0	17	26					T	189933563	C	T	189933563	2	4	349	1	0	0	0	0	0	0	0	1	3697	726	26	2		2	COL5A2	2	189933563	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		189933563	53265810	7	33261											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			54	52	0	0	0	1	0	54	52					T	209113112	C	T	209113112	3	4	349	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	19179549	209113112	34086261	8	33262											
IRS1	3667	broad.mit.edu	37	chr2	227661149	227661149	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgggtgtgcttaaaggatCttggcaatgagtagtaggag	16	4	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	ENST00000305123.5	-	1	3326	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	769					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)		CTTAAAGGATCTTGGCAATGA	0.627																																						ENST00000305123.4																			0				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						c.(2305-2307)aGa>aAa		insulin receptor substrate 1							132	151	145					2																	227661149		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661149C>T		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.2306G>A	2.37:g.227661149C>T	ENSP00000304895:p.Arg769Lys						p.R769K	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3326	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	769						Missense_Mutation	SNP	ENST00000305123.5	37	c.2306G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029283	0.54790	.	.	ENSG00000169047	ENST00000305123	D	0.83250	-1.7	4.85	4.85	0.62838	.	0.119094	0.41396	D	0.000888	D	0.86481	0.5943	L	0.55213	1.73	0.33996	D	0.649703	D	0.67145	0.996	P	0.57620	0.824	D	0.87135	0.2199	10	0.23302	T	0.38	-6.8812	18.1615	0.89709	0.0:1.0:0.0:0.0	.	769	P35568	IRS1_HUMAN	K	769	ENSP00000304895:R769K	ENSP00000304895:R769K	R	-	2	0	IRS1	227369393	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.397000	0.59690	2.526000	0.85167	0.561000	0.74099	AGA		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		142	173	0	0	0	1	0	142	173					T	227661149	C	T	227661149	3	4	349	1	0	0	0	0	1	0	0	0	7840	913	32	2	1426	2	IRS1	2	227661149	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	18548037	227661149	15538224	9	33263											
SCN10A	6336	broad.mit.edu	37	chr3	38768259	38768259	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggcctctgggagcTtggagccctccagagctccc	13	16	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	ENST00000449082.2	-	16	2924	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	975					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTCTGGGAGCTTGGAGCCCTC	0.577																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2923-2925)caA>caG		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						63	64	64					3																	38768259		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768259T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2925A>G	3.37:g.38768259T>C							p.Q975Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2924	-			975					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2925A>G	CCDS33736.1																																																																																				0.577	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		27	34	0	0	0	1	0	27	34					C	38768259	T	C	38768259	2	2	349	1	0	0	0	0	0	0	0	1	13912	1606	56	3		3	SCN10A	3	38768259	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		38768259	159254171	10	33264											
FGFRL1	53834	broad.mit.edu	37	chr4	1018108	1018108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcccacagagcggacccGttccaagcccgtgctcacag	10	17	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	ENST00000398484.2	+	7	1308	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					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)	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711																																						ENST00000398484.2																			4	Substitution - Missense(4)	p.R213L(2)|p.R243L(2)	lung(4)	endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(727-729)cGt>cAt		fibroblast growth factor receptor-like 1							41	39	40					4																	1018108		2199	4279	6478	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018108G>A		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.728G>A	4.37:g.1018108G>A	ENSP00000381498:p.Arg243His					FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H	p.R243H			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1308	+			243					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.728G>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.277289	0.80580	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.24	5.24	0.73138	.	0.166361	0.52532	D	0.000071	T	0.70378	0.3217	L	0.39397	1.21	0.52099	D	0.999944	D	0.60575	0.988	P	0.48571	0.582	T	0.74346	-0.3695	10	0.62326	D	0.03	-35.1573	17.8483	0.88737	0.0:0.0:1.0:0.0	.	243	Q8N441	FGRL1_HUMAN	H	243;213;243;243;243	ENSP00000381498:R243H;ENSP00000425025:R243H;ENSP00000423091:R243H;ENSP00000264748:R243H	ENSP00000264748:R243H	R	+	2	0	FGFRL1	1008108	0.991000	0.36638	0.999000	0.59377	0.641000	0.38312	3.172000	0.50832	2.461000	0.83175	0.567000	0.79289	CGT		0.711	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		36	46	0	0	0	1	0	36	46					A	1018108	G	A	1018108	3	1	349	1	0	0	0	0	1	0	0	0	5869	1145	40	1	746	1	FGFRL1	4	1018108	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		1018108	190136168	11	33265											
EVC2	132884	broad.mit.edu	37	chr4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcgcctgcactcacccGgctgtgcgactccaggatct	10	18	2	0	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	ENST00000344408.5	-	17	3108	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	EVC2_ENST00000310917.2_Missense_Mutation_p.R939W|EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1019					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCACTCACCCGGCTGTGCGAC	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17748	0.0		0.0	False		,,,				2504	0.0					ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(2815-2817)Cgg>Tgg		Ellis van Creveld syndrome 2		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	38	40	39		2815,3055	3.2	1	4	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EVC2	NM_001166136.1,NM_147127.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	939/1229,1019/1309	5586352	1,13005	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5586352G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3055C>T	4.37:g.5586352G>A	ENSP00000342144:p.Arg1019Trp					EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W|EVC2_ENST00000344408.5_Missense_Mutation_p.R1019W	p.R939W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			17	3546	-			1019					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2815C>T	CCDS3382.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.49	2.848538	0.51164	0.0	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74421	-0.84;-0.83;-0.83	4.98	3.22	0.36961	.	0.326796	0.28700	N	0.014427	T	0.59891	0.2227	N	0.08118	0	0.25523	N	0.987349	D	0.67145	0.996	P	0.49637	0.617	T	0.55592	-0.8117	10	0.66056	D	0.02	-21.2531	9.0374	0.36296	0.1837:0.0:0.8163:0.0	.	1019	Q86UK5	LBN_HUMAN	W	1019;939;1019	ENSP00000339954:R1019W;ENSP00000311683:R939W;ENSP00000342144:R1019W	ENSP00000311683:R939W	R	-	1	2	EVC2	5637253	1.000000	0.71417	0.998000	0.56505	0.256000	0.26092	2.348000	0.44045	1.231000	0.43661	0.543000	0.68304	CGG		0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		11	10	0	0	0	1	0	11	10					A	5586352	G	A	5586352	3	1	349	1	0	0	0	0	1	0	0	0	5286	1115	39	1	895	1	EVC2	4	5586352	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	4568244	5586352	185567924	12	33266											
AFP	174	broad.mit.edu	37	chr4	74316388	74316388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcgtcggagctgatggCcatcaccagaaaaatggcag	12	11	1	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	ENST00000395792.2	+	11	1446	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_ENST00000226359.2_Missense_Mutation_p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	449	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTGATGGCCATCACCAGA	0.507									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1345-1347)gCc>gTc		alpha-fetoprotein							93	84	87					4																	74316388		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74316388C>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1346C>T	4.37:g.74316388C>T	ENSP00000379138:p.Ala449Val					AFP_ENST00000226359.2_Missense_Mutation_p.A449V	p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1446	+	Breast(15;0.00102)		449			Albumin 3.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1346C>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546439	0.13312	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.72942	-0.7;-0.7	4.85	3.05	0.35203	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.859348	0.10384	N	0.681214	T	0.55689	0.1936	L	0.28274	0.84	0.09310	N	1	B;P	0.35793	0.379;0.521	B;B	0.35182	0.197;0.197	T	0.49899	-0.8890	10	0.66056	D	0.02	.	5.6004	0.17351	0.2037:0.6952:0.0:0.1011	.	291;449	B4DMX4;P02771	.;FETA_HUMAN	V	449	ENSP00000379138:A449V;ENSP00000226359:A449V	ENSP00000226359:A449V	A	+	2	0	AFP	74535252	0.000000	0.05858	0.008000	0.14137	0.282000	0.26991	0.386000	0.20702	0.696000	0.31696	0.655000	0.94253	GCC		0.507	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			37	40	0	0	0	1	0	37	40					T	74316388	C	T	74316388	3	4	349	1	0	0	0	0	1	0	0	0	363	739	26	2	1388	2	AFP	4	74316388	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	68730036	74316388	116837888	13	33267											
C4orf37	285555	broad.mit.edu	37	chr4	99030425	99030425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagttgccaaaatgtataCctttgtatttcaaagttgca	7	6	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:99030425C>A	ENST00000295268.3	-	4	508	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	140																	AAAATGTATACCTTTGTATTT	0.313																																						ENST00000295268.3																			0											c.(418-420)gGt>gTt		sperm-tail PG-rich repeat containing 2							62	62	62					4																	99030425		2203	4298	6501	SO:0001583	missense	285555							g.chr4:99030425C>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.419G>T	4.37:g.99030425C>A	ENSP00000295268:p.Gly140Val						p.G140V	NM_174952.2	NP_777612.1					4	508	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.419G>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954259	0.73902	.	.	ENSG00000163116	ENST00000295268	T	0.37411	1.2	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62709	-0.6797	10	0.87932	D	0	-21.364	18.0778	0.89433	0.0:1.0:0.0:0.0	.	140	Q8N412	CD037_HUMAN	V	140	ENSP00000295268:G140V	ENSP00000295268:G140V	G	-	2	0	C4orf37	99249448	0.998000	0.40836	0.991000	0.47740	0.927000	0.56198	5.125000	0.64715	2.619000	0.88677	0.484000	0.47621	GGT		0.313	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		30	42	1	0	6.00712e-18	1	6.40103e-18	30	42					A	99030425	C	A	99030425	3	1	349	1	0	0	0	0	1	0	0	0	2267	507	18	4	992	4	C4orf37	4	99030425	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	24714037	99030425	92123851	14	33268											
HEATR7B2	133558	broad.mit.edu	37	chr5	41070936	41070936	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgatgcttacctatggattCctctgtactaagtgtcatgt	8	8	2	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr5:41070936C>A	ENST00000399564.4	-	1	469	c.19G>T	c.(19-21)Gaa>Taa	p.E7*		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	7								p.E7*(1)									CCTATGGATTCCTCTGTACTA	0.423																																						ENST00000399564.4																			1	Substitution - Nonsense(1)	p.E7*(1)	lung(1)								c.(19-21)Gaa>Taa		maestro heat-like repeat family member 2B							95	90	92					5																	41070936		1920	4120	6040	SO:0001587	stop_gained	133558							g.chr5:41070936C>A		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.19G>T	5.37:g.41070936C>A	ENSP00000382476:p.Glu7*						p.E7*	NM_173489.4	NP_775760.3					1	469	-								Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.19G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	38	7.200541	0.98132	.	.	ENSG00000171495	ENST00000399564	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.3311	0.66556	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000382476:E7X	E	-	1	0	HEATR7B2	41106693	0.786000	0.28738	0.464000	0.27143	0.019000	0.09904	1.975000	0.40569	2.771000	0.95319	0.591000	0.81541	GAA		0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	9	1	0	0.00307968	1	0.00307968	7	9					A	41070936	C	A	41070936	4	1	349	1	0	0	0	0	0	1	0	0	7035	864	30	4	4906	4	HEATR7B2	5	41070936	Nonsense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		41070936	139844324	15	33269											
MICA	100507436	broad.mit.edu	37	chr6	31379973	31379973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctacatggaacacagcgGgaatcacagcactcaccctg	9	14	2	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:31379973G>A	ENST00000449934.2	+	4	917	c.863G>A	c.(862-864)gGg>gAg	p.G288E	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAACACAGCGGGAATCACAGC	0.612																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(862-864)gGg>gAg		MHC class I polypeptide-related sequence A							65	54	57					6																	31379973		692	1591	2283	SO:0001583	missense	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31379973G>A	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.863G>A	6.37:g.31379973G>A	ENSP00000413079:p.Gly288Glu					HCP5_ENST00000414046.2_RNA	p.G288E	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			4	917	+		Ovarian(999;0.0253)	288			Ig-like C1-type.			Missense_Mutation	SNP	ENST00000449934.2	37	c.863G>A	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	g	12.85	2.062605	0.36373	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.15487	2.42;2.42	2.72	2.72	0.32119	.	.	.	.	.	T	0.13798	0.0334	M	0.79475	2.455	0.09310	N	1	P;P	0.41080	0.737;0.645	B;B	0.42555	0.239;0.391	T	0.03597	-1.1021	9	0.87932	D	0	.	11.3132	0.49377	0.0:0.0:1.0:0.0	.	150;288	Q5SS58;Q96QC4	.;.	E	150;288;245;288;179	ENSP00000413079:G288E;ENSP00000402410:G179E	ENSP00000365394:G288E	G	+	2	0	MICA	31487952	0.020000	0.18652	0.035000	0.18076	0.040000	0.13550	2.429000	0.44758	1.572000	0.49736	0.444000	0.29173	GGG		0.612	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	46	0	0	0	1	0	3	46					A	31379973	G	A	31379973	3	1	349	1	0	0	0	0	1	0	0	0	9568	1232	43	2	877	2	MICA	6	31379973	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		31379973	139735094	16	33270											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974943	32974943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggccaggcccagggcAcagaccagggtctccatggc	14	15	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	ENST00000229829.5	-	4	738	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	221					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGGGCACAGACCAGGG	0.577																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(661-663)tgT>tgC		major histocompatibility complex, class II, DO alpha							71	75	74					6																	32974943		2203	4300	6503	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32974943A>G	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.663T>C	6.37:g.32974943A>G						HLA-DOA_ENST00000450833.2_Intron	p.C221C	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			4	738	-			221					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.663T>C	CCDS4763.1																																																																																				0.577	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		43	71	0	0	0	1	0	43	71					G	32974943	A	G	32974943	2	3	349	1	0	0	0	0	0	0	0	1	7200	157	6	3		3	HLA-DOA	6	32974943	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	1594970	32974943	138140124	17	33271											
PKHD1	5314	broad.mit.edu	37	chr6	51892645	51892645	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagcagggacccacagcAaggctcgatgctgaaaactt	10	13	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	ENST00000371117.3	-	31	3885	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1204	IPT/TIG 7.		C -> Y. {ECO:0000269|PubMed:12079288}.		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)					GACCCACAGCAAGGCTCGATG	0.413																																						ENST00000371117.3																			0				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						c.(3610-3612)Tgc>Cgc		polycystic kidney and hepatic disease 1 (autosomal recessive)							67	67	67					6																	51892645		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892645A>G	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.3610T>C	6.37:g.51892645A>G	ENSP00000360158:p.Cys1204Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			31	3885	-	Lung NSC(77;0.0605)		1204		C -> Y.	IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3610T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021923	0.54576	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.75589	-0.95;-0.95	5.71	5.71	0.89125	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	L	0.47190	1.495	0.58432	D	0.999999	D;P	0.56521	0.976;0.817	P;P	0.50049	0.629;0.524	T	0.63242	-0.6681	10	0.12430	T	0.62	.	15.1592	0.72767	1.0:0.0:0.0:0.0	.	1204;1204	P08F94-2;P08F94	.;PKHD1_HUMAN	R	1204	ENSP00000360158:C1204R;ENSP00000341097:C1204R	ENSP00000341097:C1204R	C	-	1	0	PKHD1	52000604	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.700000	0.47085	2.171000	0.68590	0.533000	0.62120	TGC		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		30	52	0	0	0	1	0	30	52					G	51892645	A	G	51892645	3	3	349	1	0	0	0	0	1	0	0	0	11971	130	5	3	8801	3	PKHD1	6	51892645	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	18917702	51892645	119222422	18	33272											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-													cctgaacttcctggtgctttTtcttcttcttctttttcttt					rs561305387	byFrequency	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433														10	0.00199681	0.0076	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-846)aaa>aa		TWIST neighbor				24,4238		4,16,2111						-2.7	0.6			252	11,8239		5,1,4119	no	coding	TWISTNB	NM_001002926.1		9,17,6230	A1A1,A1R,RR		0.1333,0.5631,0.2797				35,12477				SO:0001651	inframe_deletion	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738111_19738113delTTC	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843_845delGAA	7.37:g.19738120_19738122delTTC	ENSP00000222567:p.Lys283del						p.KK281del	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913_915	-			281			Lys-rich.		A0PJ45|B7Z724	In_Frame_Del	DEL	ENST00000222567.5	37	c.843_845delGAA	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			7	504						7	504	---	---	---	---	-	19738113	TTC	-	19738111	7	5	349	1	0	1	0	1	0	0	0	0	16781	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-IK-7675-01A-11D-2086-08		19738111	139400552	19	33273											
WBSCR17	64409	broad.mit.edu	37	chr7	71135022	71135022	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggaaaagtttaaagtgtaaGaatttccagtggtacctgga	11	4	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	ENST00000333538.5	+	8	1966	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	444					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)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAAGTGTAAGAATTTCCAGT	0.438																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1330-1332)aaG>aaC		Williams-Beuren syndrome chromosome region 17							154	152	153					7																	71135022		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135022G>C	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1332G>C	7.37:g.71135022G>C	ENSP00000329654:p.Lys444Asn					WBSCR17_ENST00000498380.2_3'UTR	p.K444N	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			8	1966	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	444					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1332G>C	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817200	0.70912	.	.	ENSG00000185274	ENST00000333538	T	0.55930	0.49	4.85	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.90425	3.115	0.80722	D	1	D	0.63046	0.992	P	0.58660	0.843	T	0.77056	-0.2729	10	0.62326	D	0.03	.	11.1396	0.48394	0.1534:0.0:0.8466:0.0	.	444	Q6IS24	GLTL3_HUMAN	N	444	ENSP00000329654:K444N	ENSP00000329654:K444N	K	+	3	2	WBSCR17	70772958	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.219000	0.32479	2.238000	0.73509	0.591000	0.81541	AAG		0.438	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		67	110	0	0	0	1	0	67	110					C	71135022	G	C	71135022	3	2	349	1	0	0	0	0	1	0	0	0	17261	933	33	4	1362	4	WBSCR17	7	71135022	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	51396911	71135022	88003641	20	33274											
ADAM28	10863	broad.mit.edu	37	chr8	24151678	24151678	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgttgcaaggtctcCtgccagtcagtctcctcctc	8	16	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	ENST00000265769.4	+	1	126	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	6					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(16-18)Ctg>Gtg		ADAM metallopeptidase domain 28							229	204	212					8																	24151678		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24151678C>G	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.16C>G	8.37:g.24151678C>G	ENSP00000265769:p.Leu6Val					ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000397649.3_5'UTR	p.L6V	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	1	126	+		Prostate(55;0.0959)	6					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.16C>G	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332309	0.41297	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.02032	4.72;4.49	4.62	0.554	0.17241	.	.	.	.	.	T	0.03871	0.0109	M	0.81802	2.56	0.20307	N	0.999917	B;B	0.17038	0.02;0.008	B;B	0.13407	0.007;0.009	T	0.32745	-0.9895	9	0.48119	T	0.1	.	4.9444	0.13982	0.0:0.4738:0.3346:0.1916	.	6;6	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	V	6	ENSP00000265769:L6V;ENSP00000393699:L6V	ENSP00000265769:L6V	L	+	1	2	ADAM28	24207623	0.003000	0.15002	0.005000	0.12908	0.071000	0.16799	0.826000	0.27407	-0.006000	0.14370	0.591000	0.81541	CTG		0.498	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		75	80	0	0	0	1	0	75	80					G	24151678	C	G	24151678	3	3	349	1	0	0	0	0	1	0	0	0	246	680	24	4	18	4	ADAM28	8	24151678	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		24151678	122212344	21	33275											
HAUS6	54801	broad.mit.edu	37	chr9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcaaaatgatacatcagatGaataaacttaggaccaccag	7	8	1	3	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					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)		p.H126Y(1)		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						TACATCAGATGAATAAACTTA	0.294																																						ENST00000380502.3																			1	Substitution - Missense(1)	p.H126Y(1)	lung(1)	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						c.(376-378)Cat>Tat		HAUS augmin-like complex, subunit 6		G	TYR/HIS	0,4406		0,0,2203	55	51	53		376	3.9	1	9	dbSNP_134	53	2,8594	2.2+/-6.3	0,2,4296	no	missense	HAUS6	NM_017645.3	83	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	126/956	19093229	2,13000	2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093229G>A	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.376C>T	9.37:g.19093229G>A	ENSP00000369871:p.His126Tyr						p.H126Y	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	843	-			126					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.376C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194335	0.58017	0.0	2.33E-4	ENSG00000147874	ENST00000380502	T	0.24538	1.85	4.87	3.91	0.45181	.	0.268624	0.41097	D	0.000955	T	0.48484	0.1502	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.54669	-0.8259	10	0.72032	D	0.01	-10.9298	14.3044	0.66375	0.0:0.1642:0.8358:0.0	.	126	Q7Z4H7	HAUS6_HUMAN	Y	126	ENSP00000369871:H126Y	ENSP00000369871:H126Y	H	-	1	0	HAUS6	19083229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.473000	0.53122	2.236000	0.73375	0.563000	0.77884	CAT		0.294	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	26	0	0	0	1	0	4	26					A	19093229	G	A	19093229	3	1	349	1	0	0	0	0	1	0	0	0	6970	1290	45	2	2547	2	HAUS6	9	19093229	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		19093229	122120202	22	33276			1	35		2	2	36	G		6.105106e-05
HAUS6	54801	broad.mit.edu	37	chr9	19093264	19093264	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caccaggagaaagaaatagtGaaccaacaacttgaggaaag	10	7	0	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	ENST00000380502.3	-	4	808	c.341C>G	c.(340-342)tCa>tGa	p.S114*	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	114					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						AAGAAATAGTGAACCAACAAC	0.313																																						ENST00000380502.3																			0				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						c.(340-342)tCa>tGa		HAUS augmin-like complex, subunit 6							64	58	60					9																	19093264		2203	4298	6501	SO:0001587	stop_gained	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093264G>C	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.341C>G	9.37:g.19093264G>C	ENSP00000369871:p.Ser114*						p.S114*	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	808	-			114					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	ENST00000380502.3	37	c.341C>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	42	9.736719	0.99251	.	.	ENSG00000147874	ENST00000380502	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3656	15.5084	0.75760	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000369871:S114X	S	-	2	0	HAUS6	19083264	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.625000	0.74248	2.236000	0.73375	0.563000	0.77884	TCA		0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		6	31	0	0	0	1	0	6	31					C	19093264	G	C	19093264	4	2	349	1	0	0	0	0	0	1	0	0	6970	1294	45	4	2582	4	HAUS6	9	19093264	Nonsense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	35	19093264	122120167	23	33277			1	35		2	2	36	G		6.105106e-05
CNTNAP3	79937	broad.mit.edu	37	chr9	39140572	39140572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccacttccatctgcatcaAtatagtaaagcccagacggg	9	12	2	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	ENST00000297668.6	-	12	1893	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	607	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1819-1821)aTt>aGt		contactin associated protein-like 3							47	53	51					9																	39140572		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140572A>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1820T>G	9.37:g.39140572A>C	ENSP00000297668:p.Ile607Ser					CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S	p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	12	1893	-			607			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1820T>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932219	0.52866	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	2.85	2.85	0.33270	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (5);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.67924	0.2945	H	0.95574	3.69	0.09310	N	1	P;D;D;D;D	0.76494	0.952;0.963;0.999;0.997;0.963	P;P;D;D;P	0.74023	0.521;0.852;0.982;0.91;0.842	T	0.59289	-0.7482	9	0.87932	D	0	.	10.1498	0.42786	1.0:0.0:0.0:0.0	.	514;607;607;607;607	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	S	607;607;519;514;607	ENSP00000297668:I607S;ENSP00000366884:I607S;ENSP00000350863:I519S;ENSP00000320728:I514S;ENSP00000366887:I607S	ENSP00000297668:I607S	I	-	2	0	CNTNAP3	39130572	1.000000	0.71417	0.007000	0.13788	0.729000	0.41735	7.878000	0.87231	1.304000	0.44892	0.361000	0.22055	ATT		0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		38	40	0	0	0	1	0	38	40					C	39140572	A	C	39140572	3	2	349	1	0	0	0	0	1	0	0	0	3648	101	4	5	2098	5	CNTNAP3	9	39140572	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	20047308	39140572	102072859	24	33278											
SVEP1	79987	broad.mit.edu	37	chr9	113275228	113275228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtagctctctgaaccGgaccacaaaccattgggtag	10	12	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	ENST00000401783.2	-	5	1617	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000302728.8_Silent_p.S427S|SVEP1_ENST00000374469.1_Silent_p.S404S|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	427	Sushi 1. {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						TCTCTGAACCGGACCACAAAC	0.443																																						ENST00000401783.2																			0				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						c.(1279-1281)tcC>tcT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							102	96	98					9																	113275228		1940	4139	6079	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275228G>A	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.1281C>T	9.37:g.113275228G>A						SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000302728.8_Silent_p.S427S	p.S427S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			5	1617	-			427			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.1281C>T	CCDS48004.1																																																																																				0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				31	54	0	0	0	1	0	31	54					A	113275228	G	A	113275228	2	1	349	1	0	0	0	0	0	0	0	1	15417	1103	39	1		1	SVEP1	9	113275228	Silent	SNP	G	TCGA-IK-7675-01A-11D-2086-08	74134656	113275228	27938203	25	33279											
OR1N2	138882	broad.mit.edu	37	chr9	125316257	125316257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggttctgctcttctatgGgtctcttatgggtgtgtatt	13	6	4	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	ENST00000373688.2	+	1	867	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270						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						CTCTTCTATGGGTCTCTTATG	0.473																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(808-810)gGg>gTg		olfactory receptor, family 1, subfamily N, member 2							227	230	229					9																	125316257		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316257G>T		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.809G>T	9.37:g.125316257G>T	ENSP00000362792:p.Gly270Val						p.G270V	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	867	+			270					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.809G>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131315	0.37630	.	.	ENSG00000171501	ENST00000373688	T	0.35605	1.3	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.49745	0.1575	M	0.76002	2.32	0.21697	N	0.999586	P	0.39862	0.692	P	0.48921	0.595	T	0.48479	-0.9032	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	V	270	ENSP00000362792:G270V	ENSP00000362792:G270V	G	+	2	0	OR1N2	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG		0.473	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			49	49	1	0	4.25531e-23	1	4.68806e-23	49	49					T	125316257	G	T	125316257	3	4	349	1	0	0	0	0	1	0	0	0	10970	1232	43	4	811	4	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	12041029	125316257	15897174	26	33280											
HPSE2	60495	broad.mit.edu	37	chr10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttcctaatctggtcagAgagtgtgtctaacaggcgag	11	7	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P|HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	358					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)		ATCTGGTCAGAGAGTGTGTCT	0.413																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1072-1074)Tct>Cct		heparanase 2							199	212	207					10																	100401630		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100401630A>G	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.1072T>C	10.37:g.100401630A>G	ENSP00000359583:p.Ser358Pro					HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P	p.S358P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	7	1131	-			358					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1072T>C	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.194608	0.58017	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.063185	0.64402	D	0.000003	T	0.28863	0.0716	N	0.12182	0.205	0.58432	D	0.999991	P;P;P;P	0.47191	0.879;0.744;0.867;0.891	P;B;B;P	0.51193	0.662;0.341;0.439;0.575	T	0.06789	-1.0807	10	0.30078	T	0.28	-6.6273	16.3979	0.83621	1.0:0.0:0.0:0.0	.	246;358;300;358	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	P	358;300;358;246	ENSP00000359583:S358P;ENSP00000359580:S300P;ENSP00000359577:S358P;ENSP00000384384:S246P	ENSP00000359577:S358P	S	-	1	0	HPSE2	100391620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.333000	0.79357	0.533000	0.62120	TCT		0.413	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		6	228	0	0	0	1	0	6	228					G	100401630	A	G	100401630	3	3	349	1	0	0	0	0	1	0	0	0	7345	304	11	3	768	3	HPSE2	10	100401630	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		100401630	35133117	27	33281											
AMBRA1	55626	broad.mit.edu	37	chr11	46456428	46456429	+	Frame_Shift_Ins	INS	-	-	GGTTATGGGG													ggtgtagagcatttcgcccaINSggttatggggggccagggag							TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	ENST00000458649.2	-	13	3209_3210	c.2791_2792insCCCCATAACC	c.(2791-2793)ctgfs	p.L931fs	AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.L902fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.L841fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.L812fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.L871fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.L871fs|AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.L902fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	931					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)		CATTTCGCCCAGGTTATGGGGG	0.569																																						ENST00000458649.2																			0				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						c.(2791-2793)gggfs		autophagy/beclin-1 regulator 1																																				SO:0001589	frameshift_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46456428_46456429insGGTTATGGGG	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.2782_2791dupCCCCATAACC	11.37:g.46456429_46456438dupGGTTATGGGG	ENSP00000415327:p.Leu931fs					AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.G902fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.G812fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.G841fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.G902fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.G871fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.G871fs	p.G931fs			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	13	3209_3210	-			931					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Ins	INS	ENST00000458649.2	37	c.2791_2792insCCCCATAACC																																																																																					0.569	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		8	14						8	14	---	---	---	---	GGTTATGGGG	46456429	-	GGTTATGGGG	46456428	7	5	349	1	0	1	1	0	0	0	0	0	565	188	7	0	1128	0	AMBRA1	11	46456428	Frame_Shift_Ins	INS	-	TCGA-IK-7675-01A-11D-2086-08		46456428	88550088	28	33282											
OR9G1	390174	broad.mit.edu	37	chr11	56468238	56468238	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgaccgctacgtggccatCtccaagcccctgctttatgc	8	15	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	ENST00000312153.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I125I(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACGTGGCCATCTCCAAGCCCC	0.522																																						ENST00000312153.1																			1	Substitution - coding silent(1)	p.I125I(1)	lung(1)	breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(373-375)atC>atT		olfactory receptor, family 9, subfamily G, member 1							156	143	147					11																	56468238		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468238C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.375C>T	11.37:g.56468238C>T							p.I125I	NM_001005213.1	NP_001005213.1					1	375	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.375C>T	CCDS31536.1																																																																																				0.522	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		6	149	0	0	0	1	0	6	149					T	56468238	C	T	56468238	2	4	349	1	0	0	0	0	0	0	0	1	11250	903	32	2		2	OR9G1	11	56468238	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08	10011810	56468238	78538278	29	33283											
PCNXL3	399909	broad.mit.edu	37	chr11	65403262	65403262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcccactggctcctgcGcacctgggagaggtgaggcc	14	14	0	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	ENST00000355703.3	+	32	5986	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1816						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCTCCTGCGCACCTGGGAG	0.687																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5446-5448)cGc>cAc		pecanex-like 3 (Drosophila)							12	14	14					11																	65403262		2124	4230	6354	SO:0001583	missense	399909					integral to membrane		g.chr11:65403262G>A	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.5447G>A	11.37:g.65403262G>A	ENSP00000347931:p.Arg1816His						p.R1816H	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			32	5986	+			1816					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5447G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282991	0.59867	.	.	ENSG00000197136	ENST00000355703	T	0.06933	3.24	4.11	0.408	0.16377	.	0.316581	0.33591	N	0.004756	T	0.05502	0.0145	N	0.08118	0	0.25246	N	0.989717	B;D	0.67145	0.021;0.996	B;P	0.51193	0.02;0.662	T	0.32929	-0.9888	10	0.49607	T	0.09	.	5.0279	0.14395	0.2566:0.1594:0.5839:0.0	.	703;1816	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1816	ENSP00000347931:R1816H	ENSP00000347931:R1816H	R	+	2	0	PCNXL3	65159838	0.526000	0.26298	0.997000	0.53966	0.966000	0.64601	0.468000	0.22051	-0.112000	0.11979	0.462000	0.41574	CGC		0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	7	0	0	0	1	0	7	7					A	65403262	G	A	65403262	3	1	349	1	0	0	0	0	1	0	0	0	11593	1087	38	1	5573	1	PCNXL3	11	65403262	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	8935024	65403262	69603254	30	33284											
PLEKHA5	54477	broad.mit.edu	37	chr12	19475547	19475547	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtggtgttacaaagggaTgatttacaaaatggactgct	11	5	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	ENST00000299275.6	+	15	2091	c.2085T>C	c.(2083-2085)gaT>gaC	p.D695D	PLEKHA5_ENST00000538714.1_Silent_p.D753D|PLEKHA5_ENST00000424268.1_Silent_p.D626D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000543806.1_Silent_p.D614D|PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000359180.3_Silent_p.D695D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	695					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)					TACAAAGGGATGATTTACAAA	0.408																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				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						c.(2257-2259)gaT>gaC		pleckstrin homology domain containing, family A member 5							87	82	84					12																	19475547		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19475547T>C	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.2085T>C	12.37:g.19475547T>C						PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000543806.1_Silent_p.D614D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000359180.3_Silent_p.D695D|PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000299275.6_Silent_p.D695D|PLEKHA5_ENST00000424268.1_Silent_p.D626D	p.D753D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			17	2263	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		695					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.2259T>C	CCDS8682.1																																																																																				0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		56	56	0	0	0	1	0	56	56					C	19475547	T	C	19475547	2	2	349	1	0	0	0	0	0	0	0	1	12059	1461	51	3		3	PLEKHA5	12	19475547	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		19475547	114376348	31	33285											
KRT3	3850	broad.mit.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-													caccaaagccaccaggaccaCcaaagccaccagcccctcca					rs148531142|rs184322044|rs142692092		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(394-414)ggt>gg		keratin 3				595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del					KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	470_487	-			132			Gly-rich.|Head.		A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	c.396_413delAGGGGCTGGTGGCTTTGG	CCDS44895.1																																																																																				0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		4	4						4	4	---	---	---	---	-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	349	1	0	1	0	1	0	0	0	0	8466	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-IK-7675-01A-11D-2086-08	33713867	53189414	80662481	32	33286											
KIAA0564	23078	broad.mit.edu	37	chr13	42293731	42293731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaatttgccttactcctTtgccagctgcacactggtag	8	12	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:42293731T>C	ENST00000379310.3	-	26	3180	c.3112A>G	c.(3112-3114)Aag>Gag	p.K1038E	VWA8_ENST00000281496.6_Missense_Mutation_p.K1038E	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1038						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCTTACTCCTTTGCCAGCTGC	0.373																																						ENST00000379310.3																			0											c.(3112-3114)Aag>Gag		von Willebrand factor A domain containing 8							170	145	153					13																	42293731		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42293731T>C	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.3112A>G	13.37:g.42293731T>C	ENSP00000368612:p.Lys1038Glu					VWA8_ENST00000281496.6_Missense_Mutation_p.K1038E	p.K1038E	NM_015058.1	NP_055873.1					26	3180	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3112A>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908447	0.72868	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.15372	2.93;2.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	P	0.58013	0.831	T	0.02625	-1.1132	10	0.25106	T	0.35	.	15.9017	0.79384	0.0:0.0:0.0:1.0	.	1038	A3KMH1	K0564_HUMAN	E	942;1038;1038	ENSP00000368612:K1038E;ENSP00000281496:K1038E	ENSP00000251030:K942E	K	-	1	0	KIAA0564	41191731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.940000	0.87693	2.213000	0.71641	0.528000	0.53228	AAG		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		57	60	0	0	0	1	0	57	60					C	42293731	T	C	42293731	3	2	349	1	0	0	0	0	1	0	0	0	8185	1850	64	3	2689	3	KIAA0564	13	42293731	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08		42293731	72876147	33	33287											
ZNF609	23060	broad.mit.edu	37	chr15	64966267	64966267	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaacccgggcaggagCcaatagcaaaggccgtcggg	14	12	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	ENST00000326648.3	+	4	1342	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	405						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						CGGGCAGGAGCCAATAGCAAA	0.567																																						ENST00000326648.3																			0				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						c.(1213-1215)gCc>gGc		zinc finger protein 609							92	92	92					15																	64966267		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966267C>G	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.1214C>G	15.37:g.64966267C>G	ENSP00000316527:p.Ala405Gly					ZNF609_ENST00000559364.1_3'UTR	p.A405G	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1342	+			405					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1214C>G	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240206	0.58995	.	.	ENSG00000180357	ENST00000326648	T	0.50813	0.73	5.55	5.55	0.83447	.	0.247478	0.48767	N	0.000174	T	0.45316	0.1336	L	0.38175	1.15	0.58432	D	0.999992	P	0.35033	0.481	B	0.38500	0.275	T	0.27938	-1.0059	10	0.32370	T	0.25	-1.4922	19.5145	0.95157	0.0:1.0:0.0:0.0	.	405	O15014	ZN609_HUMAN	G	405	ENSP00000316527:A405G	ENSP00000316527:A405G	A	+	2	0	ZNF609	62753320	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.802000	0.62539	2.608000	0.88229	0.650000	0.86243	GCC		0.567	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		67	104	0	0	0	1	0	67	104					G	64966267	C	G	64966267	3	3	349	1	0	0	0	0	1	0	0	0	18032	739	26	4	1228	4	ZNF609	15	64966267	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		64966267	37565125	34	33288											
GGA2	23062	broad.mit.edu	37	chr16	23491094	23491094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgccctcacccaaggctGccaggtcctgatgaagcaaa	9	15	1	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	ENST00000309859.4	-	11	1203	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	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	374	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)		ACCCAAGGCTGCCAGGTCCTG	0.612																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1120-1122)gCa>gAa		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							105	74	84					16																	23491094		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23491094G>T	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.1121C>A	16.37:g.23491094G>T	ENSP00000311962:p.Ala374Glu					GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	p.A374E	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	11	1203	-			374			Unstructured hinge.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1121C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774098	0.31411	.	.	ENSG00000103365	ENST00000309859	T	0.14893	2.47	4.56	2.5	0.30297	.	0.603497	0.17831	N	0.160529	T	0.15089	0.0364	L	0.60455	1.87	0.80722	D	1	D	0.54772	0.968	P	0.45310	0.476	T	0.28427	-1.0044	10	0.02654	T	1	-5.2242	7.3814	0.26858	0.0:0.1659:0.4925:0.3416	.	374	Q9UJY4	GGA2_HUMAN	E	374	ENSP00000311962:A374E	ENSP00000311962:A374E	A	-	2	0	GGA2	23398595	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	1.204000	0.32296	0.604000	0.29930	-0.182000	0.12963	GCA		0.612	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			11	73	1	0	0.000566183	1	0.00057503	11	73					T	23491094	G	T	23491094	3	4	349	1	0	0	0	0	1	0	0	0	6353	1319	46	4	748	4	GGA2	16	23491094	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		23491094	66863659	35	33289											
ABCC12	94160	broad.mit.edu	37	chr16	48145730	48145730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatcagttttgcatagCgccctctctcctccattaac	6	13	2	1	rs566735897		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	ENST00000311303.3	-	14	2426	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	694	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					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)				TTTTGCATAGCGCCCTCTCTC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20518	0.0		0.0	False		,,,				2504	0.0					ENST00000311303.3																			0				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						c.(2080-2082)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							164	154	157					16																	48145730		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145730C>T	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.2081G>A	16.37:g.48145730C>T	ENSP00000311030:p.Arg694His					ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H|ABCC12_ENST00000416054.1_3'UTR	p.R694H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			14	2426	-		all_cancers(37;0.0474)|all_lung(18;0.047)	694			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2081G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	6.204	0.405832	0.11754	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81330	-1.48;-1.48	5.56	-5.46	0.02608	ABC transporter-like (1);	0.728400	0.14511	N	0.315092	T	0.59770	0.2218	N	0.25426	0.745	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42632	-0.9440	10	0.42905	T	0.14	.	3.7885	0.08710	0.1007:0.3595:0.1001:0.4396	.	694	Q96J65	MRP9_HUMAN	H	694;694;636	ENSP00000311030:R694H;ENSP00000401855:R694H	ENSP00000311030:R694H	R	-	2	0	ABCC12	46703231	0.000000	0.05858	0.003000	0.11579	0.140000	0.21249	-0.288000	0.08377	-0.800000	0.04433	-1.149000	0.01842	CGC		0.463	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		33	65	0	0	0	1	0	33	65					T	48145730	C	T	48145730	3	4	349	1	0	0	0	0	1	0	0	0	52	768	27	1	2062	1	ABCC12	16	48145730	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	24654636	48145730	42209023	36	33290											
SLC6A2	6530	broad.mit.edu	37	chr16	55734096	55734096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaagccactcacctacGacgactacatcttcccgccc	4	19	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:55734096G>A	ENST00000379906.2	+	12	1891	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	546					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCTACGACGACTACAT	0.547																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1636-1638)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						129	108	115					16																	55734096		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55734096G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1636G>A	16.37:g.55734096G>A	ENSP00000369237:p.Asp546Asn					SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N	p.D546N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	12	1891	+			546					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1636G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408368	0.42715	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.73575	-0.76;-0.76	5.14	5.14	0.70334	.	0.053759	0.64402	D	0.000001	T	0.46889	0.1416	N	0.03281	-0.365	0.49299	D	0.999772	B;B;B	0.32731	0.147;0.382;0.178	B;B;B	0.21708	0.021;0.036;0.036	T	0.57682	-0.7769	10	0.02654	T	1	.	17.3786	0.87399	0.0:0.0:1.0:0.0	.	260;441;546	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	N	546;260;546;546	ENSP00000369237:D546N;ENSP00000219833:D546N	ENSP00000219833:D546N	D	+	1	0	SLC6A2	54291597	1.000000	0.71417	0.408000	0.26446	0.674000	0.39518	9.301000	0.96167	2.382000	0.81193	0.655000	0.94253	GAC		0.547	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			5	138	0	0	0	1	0	5	138					A	55734096	G	A	55734096	3	1	349	1	0	0	0	0	1	0	0	0	14683	1058	37	1	1773	1	SLC6A2	16	55734096	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	7588366	55734096	34620657	37	33291											
WDR81	124997	broad.mit.edu	37	chr17	1637326	1637326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgaggacttcttcctgagCggcagcaaggatcgtaccgt	13	11	1	1	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	ENST00000409644.1	+	7	4995	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000545662.1_Silent_p.S296S|WDR81_ENST00000309182.5_Silent_p.S614S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.S438S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1665					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)		TCTTCCTGAGCGGCAGCAAGG	0.657																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4993-4995)agC>agT		WD repeat domain 81		C	,,,	0,4404		0,0,2202	62	58	59		1386,4995,1314,1842	-4.2	1	17	dbSNP_134	59	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,,	462/739,1665/1942,438/715,614/891	1637326	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	124997							g.chr17:1637326C>T	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.4995C>T	17.37:g.1637326C>T						WDR81_ENST00000545662.1_Silent_p.S296S|WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000419248.1_Silent_p.S438S|WDR81_ENST00000309182.5_Silent_p.S614S|RP11-961A15.1_ENST00000576540.1_RNA	p.S1665S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4995	+			438					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.4995C>T	CCDS54062.1																																																																																				0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		44	67	0	0	0	1	0	44	67					T	1637326	C	T	1637326	2	4	349	1	0	0	0	0	0	0	0	1	17327	767	27	1		1	WDR81	17	1637326	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		1637326	79557884	38	33292											
RABEP1	9135	broad.mit.edu	37	chr17	5257698	5257698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataagagaaaggatcacaaAaaagcagatgttgaggaaga	11	3	1	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	ENST00000546142.2	+	8	1195	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000262477.6_Silent_p.K336K|RABEP1_ENST00000341923.6_Silent_p.K336K			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	336					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						AGGATCACAAAAAAGCAGATG	0.338																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1006-1008)aaA>aaG		rabaptin, RAB GTPase binding effector protein 1							133	122	125					17																	5257698		1824	4086	5910	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5257698A>G	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.1008A>G	17.37:g.5257698A>G						RABEP1_ENST00000546142.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000341923.6_Silent_p.K336K	p.K336K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			8	1232	+			336					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1008A>G	CCDS45592.1																																																																																				0.338	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		25	24	0	0	0	1	0	25	24					G	5257698	A	G	5257698	2	3	349	1	0	0	0	0	0	0	0	1	12961	11	1	3		3	RABEP1	17	5257698	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	3620372	5257698	75937512	39	33293											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	4	0	0	0	1	0	23	4					A	7577121	G	A	7577121	3	1	349	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2319423	7577121	73618089	40	33294											
CASC3	22794	broad.mit.edu	37	chr17	38320314	38320314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggacctgggaagctccggtgGattctagtacaagtggactt	14	8	1	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	ENST00000264645.7	+	7	1592	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	456	Necessary for localization in cytoplasmic stress granules.				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						AGCTCCGGTGGATTCTAGTAC	0.542																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1366-1368)Gat>Tat		cancer susceptibility candidate 3							57	54	55					17																	38320314		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320314G>T	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.1366G>T	17.37:g.38320314G>T	ENSP00000264645:p.Asp456Tyr						p.D456Y	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1592	+			456			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1366G>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939219	0.18281	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	5.08	0.68730	.	0.229868	0.42964	D	0.000621	T	0.57315	0.2045	N	0.14661	0.345	0.58432	D	0.999995	D;D	0.61697	0.99;0.981	P;P	0.56700	0.804;0.687	T	0.64732	-0.6338	9	0.72032	D	0.01	-11.8211	18.2812	0.90098	0.0:0.0:1.0:0.0	.	456;456	B4DKR6;O15234	.;CASC3_HUMAN	Y	456	.	ENSP00000264645:D456Y	D	+	1	0	CASC3	35573840	1.000000	0.71417	0.973000	0.42090	0.267000	0.26476	7.716000	0.84723	2.648000	0.89879	0.563000	0.77884	GAT		0.542	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		29	34	1	0	9.17885e-22	1	9.94375e-22	29	34					T	38320314	G	T	38320314	3	4	349	1	0	0	0	0	1	0	0	0	2661	1174	41	4	1392	4	CASC3	17	38320314	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	30743193	38320314	42874896	41	33295											
G6PC	2538	broad.mit.edu	37	chr17	41059590	41059590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtatactacgtgatgGtcacatctactctttccatc	7	11	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	ENST00000253801.2	+	3	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_ENST00000592383.1_Intron|G6PC_ENST00000585489.1_Missense_Mutation_p.V131I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	131					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(391-393)Gtc>Atc		glucose-6-phosphatase, catalytic subunit							79	68	72					17																	41059590		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41059590G>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.391G>A	17.37:g.41059590G>A	ENSP00000253801:p.Val131Ile					G6PC_ENST00000585489.1_Missense_Mutation_p.V131I|G6PC_ENST00000592383.1_Intron	p.V131I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	470	+		Breast(137;0.000143)	131					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.391G>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476402	0.84640	.	.	ENSG00000131482	ENST00000253801	T	0.75050	-0.9	5.05	5.05	0.67936	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	L	0.39898	1.24	0.80722	D	1	D	0.56968	0.978	P	0.57911	0.829	T	0.76471	-0.2947	10	0.34782	T	0.22	.	18.2197	0.89897	0.0:0.0:1.0:0.0	.	131	P35575	G6PC_HUMAN	I	131	ENSP00000253801:V131I	ENSP00000253801:V131I	V	+	1	0	G6PC	38313116	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.186000	0.77722	2.617000	0.88574	0.555000	0.69702	GTC		0.517	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		21	45	0	0	0	1	0	21	45					A	41059590	G	A	41059590	3	1	349	1	0	0	0	0	1	0	0	0	6143	1261	44	2	401	2	G6PC	17	41059590	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2739276	41059590	40135620	42	33296											
RFX1	5989	broad.mit.edu	37	chr19	14077272	14077272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgggctggctgaggttgTacctccagaaggtcttccac	12	12	1	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	ENST00000254325.4	-	14	2156	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	641					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)			GCTGAGGTTGTACCTCCAGAA	0.642																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1921-1923)tAc>tGc		regulatory factor X, 1 (influences HLA class II expression)							51	45	47					19																	14077272		2203	4300	6503	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14077272T>C		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.1922A>G	19.37:g.14077272T>C	ENSP00000254325:p.Tyr641Cys						p.Y641C	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		14	2156	-			641						Missense_Mutation	SNP	ENST00000254325.4	37	c.1922A>G	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584495	0.28268	.	.	ENSG00000132005	ENST00000254325	T	0.07800	3.16	4.41	3.36	0.38483	.	0.186824	0.45606	D	0.000360	T	0.04588	0.0125	N	0.14661	0.345	0.31340	N	0.683779	B	0.10296	0.003	B	0.09377	0.004	T	0.13764	-1.0497	10	0.39692	T	0.17	-9.2043	5.7932	0.18371	0.1677:0.0:0.1743:0.658	.	641	P22670	RFX1_HUMAN	C	641	ENSP00000254325:Y641C	ENSP00000254325:Y641C	Y	-	2	0	RFX1	13938272	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	1.870000	0.39529	0.694000	0.31654	0.459000	0.35465	TAC		0.642	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		22	25	0	0	0	1	0	22	25					C	14077272	T	C	14077272	3	2	349	1	0	0	0	0	1	0	0	0	13262	1638	57	3	1049	3	RFX1	19	14077272	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08		14077272	45051711	43	33297											
RASIP1	54922	broad.mit.edu	37	chr19	49227649	49227649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagccatggagagtttcCggaagaactcagtggcaatg	12	9	2	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	ENST00000222145.4	-	10	2693	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	830	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)		GGAGAGTTTCCGGAAGAACTC	0.572																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2488-2490)cGg>cAg		Ras interacting protein 1							97	88	91					19																	49227649		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49227649C>T	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.2489G>A	19.37:g.49227649C>T	ENSP00000222145:p.Arg830Gln						p.R830Q	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	10	2693	-		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)	830			Dilute.		Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2489G>A	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	c	19.83	3.899765	0.72754	.	.	ENSG00000105538	ENST00000222145	T	0.21031	2.03	5.11	5.11	0.69529	Dilute (1);Dil domain (1);	0.293482	0.28618	N	0.014713	T	0.14141	0.0342	N	0.16743	0.435	0.31952	N	0.609598	P	0.48162	0.906	B	0.40165	0.321	T	0.04664	-1.0935	10	0.24483	T	0.36	-2.2551	16.4672	0.84083	0.0:1.0:0.0:0.0	.	830	Q5U651	RAIN_HUMAN	Q	830	ENSP00000222145:R830Q	ENSP00000222145:R830Q	R	-	2	0	RASIP1	53919461	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.158000	0.50723	2.570000	0.86706	0.550000	0.68814	CGG		0.572	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		53	66	0	0	0	1	0	53	66					T	49227649	C	T	49227649	3	4	349	1	0	0	0	0	1	0	0	0	13078	652	23	1	414	1	RASIP1	19	49227649	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	35150377	49227649	9901334	44	33298											
ZNF761	388561	broad.mit.edu	37	chr19	53958983	53958983	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagacttcatactggagagAaaccttacaaatgtgaagaa	9	6	1	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53958983A>C	ENST00000454407.1	+	0	1675							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)		TACTGGAGAGAAACCTTACAA	0.368																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							117	123	121					19																	53958983		2203	4298	6501			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958983A>C	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.53958983A>C										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1675	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.368	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		4	229	0	0	0	1	0	4	229					C	53958983	A	C	53958983	1	2	349	0	1	0	0	0	0	0	0	0	18133	247	9	5		5	ZNF761	19	53958983	RNA	SNP	A	TCGA-IK-7675-01A-11D-2086-08	4731334	53958983	5170000	45	33299											
JPH2	57158	broad.mit.edu	37	chr20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctcctcgcggtggccgtCgggcagcgtggtgcagccat	16	15	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					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)			CGGTGGCCGTCGGGCAGCGTG	0.662																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(997-999)Gac>Aac		junctophilin 2							43	37	39					20																	42788430		2203	4299	6502	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788430C>T	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.997G>A	20.37:g.42788430C>T	ENSP00000362071:p.Asp333Asn						p.D333N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1869	-		Myeloproliferative disorder(115;0.0122)	333					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.997G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632685	0.87660	.	.	ENSG00000149596	ENST00000372980	T	0.58797	0.31	3.12	2.16	0.27623	.	0.115168	0.56097	N	0.000022	T	0.49440	0.1557	L	0.46614	1.455	0.80722	D	1	D	0.55172	0.97	B	0.44315	0.446	T	0.44651	-0.9314	10	0.42905	T	0.14	.	9.776	0.40618	0.0:0.8956:0.0:0.1044	.	333	Q9BR39	JPH2_HUMAN	N	333	ENSP00000362071:D333N	ENSP00000362071:D333N	D	-	1	0	JPH2	42221844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.811000	0.47986	0.492000	0.27815	0.306000	0.20318	GAC		0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			37	26	0	0	0	1	0	37	26					T	42788430	C	T	42788430	3	4	349	1	0	0	0	0	1	0	0	0	7961	884	31	1	1109	1	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		42788430	20237090	46	33300											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007647	32007647	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcctgggcggtggctAtggctgtggctgtggttatg	19	6	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	ENST00000330798.2	+	1	93	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	22						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCGGTGGCTATGGCTGTGGC	0.562																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(64-66)tAt>tGt		keratin associated protein 20-2							203	161	175					21																	32007647		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007647A>G	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.65A>G	21.37:g.32007647A>G	ENSP00000330746:p.Tyr22Cys						p.Y22C	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	93	+			22						Missense_Mutation	SNP	ENST00000330798.2	37	c.65A>G	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	A	4.235	0.042582	0.08196	.	.	ENSG00000184032	ENST00000330798	T	0.14391	2.51	4.18	-1.16	0.09678	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.34976	-0.9807	8	0.87932	D	0	.	3.2727	0.06888	0.472:0.0:0.3452:0.1827	.	22	Q3LI61	KR202_HUMAN	C	22	ENSP00000330746:Y22C	ENSP00000330746:Y22C	Y	+	2	0	KRTAP20-2	30929518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.318000	0.02705	-0.281000	0.09141	-1.426000	0.01102	TAT		0.562	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			62	64	0	0	0	1	0	62	64					G	32007647	A	G	32007647	3	3	349	1	0	0	0	0	1	0	0	0	8537	449	16	3	67	3	KRTAP20-2	21	32007647	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		32007647	16122248	47	33301											
MN1	4330	broad.mit.edu	37	chr22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-													acctctcaaagaacacaccaTgctgctgctgctgctgctgg							TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309					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						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(925-930)cat>ca		meningioma (disrupted in balanced translocation) 1				53,2821		10,33,1394						2.8	0.9			2	95,5897		15,65,2916	no	coding	MN1	NM_002430.2		25,98,4310	A1A1,A1R,RR		1.5854,1.8441,1.6693				148,8718				SO:0001651	inframe_deletion	4330						binding	g.chr22:28195603_28195605delTGC	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.927_929delGCA	22.37:g.28195612_28195614delTGC	ENSP00000304956:p.Gln309del						p.QH309del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1881_1883	-			309					A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.927_929delGCA	CCDS42998.1																																																																																				0.64	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		2	4						2	4	---	---	---	---	-	28195605	TGC	-	28195603	7	5	349	1	0	1	0	1	0	0	0	0	9673	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-IK-7675-01A-11D-2086-08		28195603	23108963	48	33302			2	36		2	2	23	N	TGC_GCT	3.837539e-05
MN1	4330	broad.mit.edu	37	chr22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-													ctgctgctgctgctgctgggGctgctgctgctgctggggct							TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	ENST00000302326.4	-	1	1859_1861	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	302	Poly-Gln.				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						tgctgctggggctgctgctgctg	0.66			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(904-909)ccc>c		meningioma (disrupted in balanced translocation) 1				39,2663		9,21,1321						-0.8	0		dbSNP_131	3	111,5619		17,77,2771	no	coding	MN1	NM_002430.2		26,98,4092	A1A1,A1R,RR		1.9372,1.4434,1.7789				150,8282				SO:0001651	inframe_deletion	4330						binding	g.chr22:28195625_28195627delGCT	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.905_907delAGC	22.37:g.28195634_28195636delGCT	ENSP00000304956:p.Gln302del						p.QP302del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1859_1861	-			302			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.905_907delAGC	CCDS42998.1																																																																																				0.66	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		2	4						2	4	---	---	---	---	-	28195627	GCT	-	28195625	7	5	349	1	0	1	0	1	0	0	0	0	9673	1203	42	0	3063	0	MN1	22	28195625	In_Frame_Del	DEL	GCT	TCGA-IK-7675-01A-11D-2086-08	22	28195625	23108941	49	33303			2	36		2	2	23	N	TGC_GCT	3.837539e-05
TUBGCP6	85378	broad.mit.edu	37	chr22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccaccgtggccgggTgggagccatgtctgacacag	16	11	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659166T>C	ENST00000248846.5	-	16	3726	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1208A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3622-3624)Acc>Gcc		tubulin, gamma complex associated protein 6							68	62	64					22																	50659166		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659166T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3622A>G	22.37:g.50659166T>C	ENSP00000248846:p.Thr1208Ala					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	p.T1208A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4114	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1208			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3622A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	0.262	-0.998869	0.02128	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11063	3.2;2.81	4.53	-2.94	0.05581	.	3.633440	0.01029	N	0.004116	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.17098	0.001;0.017;0.001	T	0.34054	-0.9844	10	0.23302	T	0.38	.	7.6347	0.28259	0.3123:0.4377:0.0:0.25	.	1200;1208;1208	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1208	ENSP00000248846:T1208A;ENSP00000397387:T1208A	ENSP00000248846:T1208A	T	-	1	0	TUBGCP6	49001293	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.348000	0.02629	-0.593000	0.05844	-0.432000	0.05891	ACC		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	119	0	0	0	1	0	4	119					C	50659166	T	C	50659166	3	2	349	1	0	0	0	0	1	0	0	0	16767	1696	59	3	1877	3	TUBGCP6	22	50659166	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	22463541	50659166	645400	50	33304			3	37	22463541	2	2	47	N	T_A	8.023777e-05
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	12	11	1	2	rs141527317	byFrequency	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.S1192S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74	68	70		3576	-9.2	0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	128	0	0	0	1	0	6	128					G	50659212	A	G	50659212	2	3	349	1	0	0	0	0	0	0	0	1	16767	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	46	50659212	645354	51	33305			3	37	22463541	2	2	47	N	T_A	8.023777e-05
FANCB	2187	broad.mit.edu	37	chrX	14863149	14863149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactgaatgttaaaagtgGtgaaagagatgttacagcag	11	3	0	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	ENST00000324138.3	-	7	1909	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_ENST00000398334.1_Missense_Mutation_p.P586S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	586					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1756-1758)Cca>Tca	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							126	114	118					X																	14863149		2203	4300	6503	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14863149G>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"Fanconi anemia, complementation groups"	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1756C>T	X.37:g.14863149G>A	ENSP00000326819:p.Pro586Ser					FANCB_ENST00000324138.3_Missense_Mutation_p.P586S	p.P586S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			8	2023	-	Hepatocellular(33;0.183)		586					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.1756C>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972201	0.74246	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.5	5.5	0.81552	.	0.120769	0.56097	D	0.000028	T	0.68201	0.2975	L	0.34521	1.04	0.45541	D	0.998498	D	0.89917	1.0	D	0.97110	1.0	T	0.71794	-0.4485	9	0.87932	D	0	-13.8641	17.256	0.87056	0.0:0.0:1.0:0.0	.	586	Q8NB91	FANCB_HUMAN	S	586	.	ENSP00000326819:P586S	P	-	1	0	FANCB	14773070	1.000000	0.71417	0.765000	0.31456	0.962000	0.63368	4.883000	0.63128	2.286000	0.76751	0.594000	0.82650	CCA		0.388	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		78	13	0	0	0	1	0	78	13					A	14863149	G	A	14863149	3	1	349	1	0	0	0	0	1	0	0	0	5663	1261	44	2	835	2	FANCB	23	14863149	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		14863149	140407411	52	33306											
GRPR	2925	broad.mit.edu	37	chrX	16170454	16170454	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttctgctggctccccaatCatgtcatctacctgtaccgc	6	17	4	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	ENST00000380289.2	+	3	1239	c.841C>A	c.(841-843)Cat>Aat	p.H281N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	281					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(841-843)Cat>Aat		gastrin-releasing peptide receptor							153	129	137					X																	16170454		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170454C>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.841C>A	X.37:g.16170454C>A	ENSP00000369643:p.His281Asn						p.H281N	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			3	1239	+	Hepatocellular(33;0.183)		281					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.841C>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195592	0.78902	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.38077	1.16	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54111	-0.8342	10	0.33940	T	0.23	-12.9196	17.2579	0.87062	0.0:1.0:0.0:0.0	.	281	P30550	GRPR_HUMAN	N	281;70	ENSP00000369643:H281N	ENSP00000369643:H281N	H	+	1	0	GRPR	16080375	1.000000	0.71417	0.961000	0.40146	0.718000	0.41266	7.487000	0.81328	2.287000	0.76781	0.600000	0.82982	CAT		0.547	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		149	19	1	0	4.26566e-80	1	4.78048e-80	149	19					A	16170454	C	A	16170454	3	1	349	1	0	0	0	0	1	0	0	0	6808	826	29	4	851	4	GRPR	23	16170454	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	1307305	16170454	139100106	53	33307											
ATRX	546	broad.mit.edu	37	chrX	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-													ttttatctcttatttttttaCttttcttttctccatcagtt							TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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						TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3133-3138)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937611_76937615delCTTTT	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.3133_3137delAAAAG	X.37:g.76937616_76937620delCTTTT	ENSP00000362441:p.Lys1045fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	p.KS1045fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3347_3351	-			1045					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3133_3137delAAAAG	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		35	19						35	19	---	---	---	---	-	76937615	CTTTT	-	76937611	7	5	349	1	0	1	0	1	0	0	0	0	1208	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-IK-7675-01A-11D-2086-08	60767157	76937611	78332949	54	33308											
HFM1	164045	broad.mit.edu	37	chr1	91781979	91781980	+	Frame_Shift_Ins	INS	-	-	T													ccttgcatctgtctcttctaINStttttttaaaggaagtcaaa							TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:91781979_91781980insT	ENST00000370425.3	-	26	2964_2965	c.2866_2867insA	c.(2866-2868)atafs	p.I956fs	HFM1_ENST00000294696.5_Frame_Shift_Ins_p.I188fs|HFM1_ENST00000370424.3_Frame_Shift_Ins_p.I635fs|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	956	SEC63.				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)		TGTCTCTTCTATTTTTTTAAAG	0.292																																						ENST00000370425.3																			0				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						c.(2866-2868)agafs		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781979_91781980insT	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.2867dupA	1.37:g.91781986_91781986dupT	ENSP00000359454:p.Ile956fs					HFM1_ENST00000370424.3_Frame_Shift_Ins_p.R635fs|HFM1_ENST00000294696.5_Frame_Shift_Ins_p.R188fs|HFM1_ENST00000462405.1_5'UTR	p.R956fs	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		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)	26	2964_2965	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	956			SEC63.		B1B0B6|Q8N9Q0	Frame_Shift_Ins	INS	ENST00000370425.3	37	c.2866_2867insA	CCDS30769.2																																																																																				0.292	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		29	20						29	20	---	---	---	---	T	91781980	-	T	91781979	7	5	350	1	0	1	1	0	0	0	0	0	7083	449	16	0	1496	0	HFM1	1	91781979	Frame_Shift_Ins	INS	-	TCGA-IK-8125-01A-11D-2253-08		91781979	157468642	1	33309											
FAM40A	85369	broad.mit.edu	37	chr1	110584240	110584240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgagtggaggaccatgCggcagaccttcagagccgag	16	10	1	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:110584240C>T	ENST00000369795.3	+	7	755	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	STRIP1_ENST00000369796.1_Missense_Mutation_p.R150W	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	245					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GAGGACCATGCGGCAGACCTT	0.592																																						ENST00000369795.3																			0											c.(733-735)Cgg>Tgg		striatin interacting protein 1							100	99	99					1																	110584240		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110584240C>T	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.733C>T	1.37:g.110584240C>T	ENSP00000358810:p.Arg245Trp					STRIP1_ENST00000369796.1_Missense_Mutation_p.R150W	p.R245W	NM_033088.2	NP_149079.2					7	755	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.733C>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363537	0.82353	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.53423	0.64;0.62	5.92	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.84683	2.71	0.80722	D	1	D;P	0.89917	1.0;0.821	D;P	0.79108	0.992;0.463	T	0.68949	-0.5274	10	0.62326	D	0.03	-11.1625	13.762	0.62973	0.2286:0.7714:0.0:0.0	.	150;245	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	W	150;245	ENSP00000358811:R150W;ENSP00000358810:R245W	ENSP00000358810:R245W	R	+	1	2	FAM40A	110385763	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	1.692000	0.37731	2.804000	0.96469	0.655000	0.94253	CGG		0.592	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		3	31	0	0	0	1	0	3	31					T	110584240	C	T	110584240	3	4	350	1	0	0	0	0	1	0	0	0	5560	759	27	1	759	1	FAM40A	1	110584240	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	18802261	110584240	138666381	2	33310											
KPRP	448834	broad.mit.edu	37	chr1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcagccctcctggggcGcctcctgccctgagctgagg	14	18	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:152733157G>A	ENST00000606109.1	+	1	1121	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000368773.1_Missense_Mutation_p.A365T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.A365T(1)	prostate(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1093-1095)Gcc>Acc		keratinocyte proline-rich protein							60	62	61					1																	152733157		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733157G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1093G>A	1.37:g.152733157G>A	ENSP00000475216:p.Ala365Thr					KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1151	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		365			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1093G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880953	0.02530	.	.	ENSG00000203786	ENST00000368773	T	0.11930	2.73	4.62	-6.99	0.01605	.	0.929655	0.09000	N	0.863063	T	0.00998	0.0033	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42716	-0.9435	10	0.05436	T	0.98	0.0126	6.3376	0.21304	0.496:0.0:0.3045:0.1995	.	365	Q5T749	KPRP_HUMAN	T	365	ENSP00000357762:A365T	ENSP00000357762:A365T	A	+	1	0	KPRP	150999781	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.811000	0.04500	-2.255000	0.00696	-1.598000	0.00824	GCC		0.662	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		13	75	0	0	0	1	0	13	75					A	152733157	G	A	152733157	3	1	350	1	0	0	0	0	1	0	0	0	8436	1087	38	1	1095	1	KPRP	1	152733157	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	42148917	152733157	96517464	3	33311											
BAT2L2	23215	broad.mit.edu	37	chr1	171511013	171511013	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttaataatgtggctcaagaaCcagttaatactcttggggat	9	6	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:171511013C>G	ENST00000338920.4	+	16	4639	c.4402C>G	c.(4402-4404)Cca>Gca	p.P1468A	PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1468A|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P1470A|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1470A	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1468					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GGCTCAAGAACCAGTTAATAC	0.428																																						ENST00000367742.3																			0											c.(4408-4410)Cca>Gca		proline-rich coiled-coil 2C							65	64	65					1																	171511013		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171511013C>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4402C>G	1.37:g.171511013C>G	ENSP00000343629:p.Pro1468Ala					PRRC2C_ENST00000426496.2_Missense_Mutation_p.P1468A|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P1470A|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P1468A	p.P1470A			Q9Y520	PRC2C_HUMAN			16	4650	+			1468					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.4408C>G	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.390|5.390	0.257260|0.257260	0.10239|0.10239	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.01902	.|4.57;4.57;4.57;4.57	5.65|5.65	3.75|3.75	0.43078|0.43078	.|.	.|0.486257	.|0.17239	.|N	.|0.181625	T|T	0.00724|0.00724	0.0024|0.0024	L|L	0.47716|0.47716	1.5|1.5	0.32127|0.32127	N|N	0.587211|0.587211	.|B	.|0.02656	.|0.0	.|B	.|0.08055	.|0.003	T|T	0.45498|0.45498	-0.9257|-0.9257	5|10	.|0.02654	.|T	.|1	.|.	11.67|11.67	0.51395|0.51395	0.0:0.7988:0.1332:0.0679|0.0:0.7988:0.1332:0.0679	.|.	.|1468	.|Q9Y520-4	.|.	K|A	15|1470;1469;1468;1470;1468;1225	.|ENSP00000375928:P1470A;ENSP00000410219:P1468A;ENSP00000356716:P1470A;ENSP00000343629:P1468A	.|ENSP00000343629:P1468A	N|P	+|+	3|1	2|0	PRRC2C|PRRC2C	169777637|169777637	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.807000|0.807000	0.45602|0.45602	1.194000|1.194000	0.32174|0.32174	0.710000|0.710000	0.31997|0.31997	0.650000|0.650000	0.86243|0.86243	AAC|CCA		0.428	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		4	55	0	0	0	1	0	4	55					G	171511013	C	G	171511013	3	3	350	1	0	0	0	0	1	0	0	0	1321	507	18	4	4460	4	BAT2L2	1	171511013	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	18777856	171511013	77739608	4	33312											
CHRM3	1131	broad.mit.edu	37	chr1	240070879	240070879	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcggcagctacaatgtttCtcgagcagctggcaatttct	9	10	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:240070879C>T	ENST00000255380.4	+	5	907	c.128C>T	c.(127-129)tCt>tTt	p.S43F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43					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)	p.S43Y(1)		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)	TACAATGTTTCTCGAGCAGCT	0.562																																						ENST00000255380.4																			1	Substitution - Missense(1)	p.S43Y(1)	lung(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(127-129)tCt>tTt		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						82	81	81					1																	240070879		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070879C>T	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.128C>T	1.37:g.240070879C>T	ENSP00000255380:p.Ser43Phe						p.S43F	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	907	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	43					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.128C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159453	0.09236	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.61392	0.11;1.37	5.07	5.07	0.68467	.	0.331877	0.26106	N	0.026316	T	0.51329	0.1668	L	0.39898	1.24	0.33354	D	0.571499	B	0.02656	0.0	B	0.01281	0.0	T	0.59161	-0.7506	10	0.52906	T	0.07	-16.7591	17.1809	0.86855	0.0:1.0:0.0:0.0	.	43	P20309	ACM3_HUMAN	F	43	ENSP00000255380:S43F;ENSP00000404764:S43F	ENSP00000255380:S43F	S	+	2	0	CHRM3	238137502	0.183000	0.23186	0.128000	0.21923	0.125000	0.20455	3.051000	0.49885	2.788000	0.95919	0.650000	0.86243	TCT		0.562	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		6	108	0	0	0	1	0	6	108					T	240070879	C	T	240070879	3	4	350	1	0	0	0	0	1	0	0	0	3378	913	32	2	130	2	CHRM3	1	240070879	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	68559866	240070879	9179742	5	33313											
THSD7B	80731	broad.mit.edu	37	chr2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccttaaggttggaccatGgagtaaatgcagactgcctc	11	9	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:137814593G>A	ENST00000409968.1	+	3	921	c.743G>A	c.(742-744)tGg>tAg	p.W248*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	248						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)		GTTGGACCATGGAGTAAATGC	0.413																																						ENST00000409968.1																			0				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						c.(742-744)tGg>tAg		thrombospondin, type I, domain containing 7B							154	151	152					2																	137814593		1885	4119	6004	SO:0001587	stop_gained	80731							g.chr2:137814593G>A			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.743G>A	2.37:g.137814593G>A	ENSP00000387145:p.Trp248*					THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*	p.W248*						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	921	+									Nonsense_Mutation	SNP	ENST00000409968.1	37	c.743G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.575845	0.96553	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2348	0.93855	0.0:0.0:1.0:0.0	.	.	.	.	X	248;248;217;107	.	ENSP00000272643:W248X	W	+	2	0	THSD7B	137531063	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.721000	0.93114	0.585000	0.79938	TGG		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		37	55	0	0	0	1	0	37	55					A	137814593	G	A	137814593	4	1	350	1	0	0	0	0	0	1	0	0	15877	1357	47	2	656	2	THSD7B	2	137814593	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		137814593	105384780	6	33314											
TTN	7273	broad.mit.edu	37	chr2	179634978	179634978	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaacagtgtcatgggaaacaCtaacttcaaaggcaacagtg	10	8	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179634978C>G	ENST00000591111.1	-	36	8674	c.8450G>C	c.(8449-8451)aGt>aCt	p.S2817T	TTN_ENST00000359218.5_Missense_Mutation_p.S2771T|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S2817T|TTN_ENST00000360870.5_Missense_Mutation_p.S2817T|TTN_ENST00000342992.6_Missense_Mutation_p.S2817T|TTN_ENST00000460472.2_Missense_Mutation_p.S2771T|TTN_ENST00000342175.6_Missense_Mutation_p.S2771T			Q8WZ42	TITIN_HUMAN	titin	13145					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)			ATGGGAAACACTAACTTCAAA	0.408																																						ENST00000589042.1																			0				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						c.(8449-8451)aGt>aCt		titin							161	154	156					2																	179634978		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634978C>G	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.8450G>C	2.37:g.179634978C>G	ENSP00000465570:p.Ser2817Thr					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S2817T|TTN_ENST00000342992.6_Missense_Mutation_p.S2817T|TTN_ENST00000342175.6_Missense_Mutation_p.S2771T|TTN_ENST00000591111.1_Missense_Mutation_p.S2817T|TTN_ENST00000359218.5_Missense_Mutation_p.S2771T|TTN_ENST00000460472.2_Missense_Mutation_p.S2771T	p.S2817T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8674	-			2555					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	ENST00000591111.1	37	c.8450G>C		.	.	.	.	.	.	.	.	.	.	C	15.69	2.907887	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70509	0.3232	N	0.21545	0.675	0.37366	D	0.911436	D;D;D;D;D	0.76494	0.989;0.989;0.989;0.994;0.999	P;P;P;D;D	0.70935	0.87;0.87;0.87;0.926;0.971	T	0.75105	-0.3435	9	0.87932	D	0	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	2771;2771;2771;2817;2817	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2817;2771;2771;2771;2771;2817	ENSP00000343764:S2817T;ENSP00000434586:S2771T;ENSP00000340554:S2771T;ENSP00000352154:S2771T;ENSP00000354117:S2817T	ENSP00000340554:S2771T	S	-	2	0	TTN	179343223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.686000	0.68211	2.871000	0.98454	0.655000	0.94253	AGT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	84	0	0	0	1	0	8	84					G	179634978	C	G	179634978	3	3	350	1	0	0	0	0	1	0	0	0	16732	565	20	4	102846	4	TTN	2	179634978	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	41820385	179634978	63564395	7	33315											
CCDC141	285025	broad.mit.edu	37	chr2	179720137	179720137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtaatctgtcacaacTttgtcaaagtcatccacatg	5	10	5	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179720137T>G	ENST00000420890.2	-	19	3114	c.2997A>C	c.(2995-2997)aaA>aaC	p.K999N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K424N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	999										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTCACAACTTTGTCAAAGT	0.353																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2995-2997)aaA>aaC		coiled-coil domain containing 141							131	125	127					2																	179720137		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179720137T>G	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2997A>C	2.37:g.179720137T>G	ENSP00000395995:p.Lys999Asn					CCDC141_ENST00000295723.5_Missense_Mutation_p.K424N	p.K999N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		19	3114	-			424					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2997A>C		.	.	.	.	.	.	.	.	.	.	T	15.39	2.819448	0.50633	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.35421	1.31;1.31;1.31	5.09	5.09	0.68999	.	0.415663	0.20877	N	0.084069	T	0.28532	0.0706	L	0.27053	0.805	0.27314	N	0.957239	P	0.49783	0.928	P	0.48270	0.572	T	0.13202	-1.0518	10	0.36615	T	0.2	-9.8895	5.2913	0.15729	0.2662:0.0762:0.0:0.6576	.	424	Q6ZP82	CC141_HUMAN	N	999;443;424	ENSP00000395995:K999N;ENSP00000344627:K443N;ENSP00000295723:K424N	ENSP00000295723:K424N	K	-	3	2	CCDC141	179428382	0.788000	0.28762	1.000000	0.80357	0.983000	0.72400	0.592000	0.23984	2.038000	0.60285	0.533000	0.62120	AAA		0.353	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		4	35	0	0	0	1	0	4	35					G	179720137	T	G	179720137	3	3	350	1	0	0	0	0	1	0	0	0	2775	1606	56	5	1375	5	CCDC141	2	179720137	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	85159	179720137	63479236	8	33316											
MYO1B	4430	broad.mit.edu	37	chr2	192257829	192257829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaagacctgaggaagcaaCgcctggaggacttggccact	13	10	0	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:192257829C>T	ENST00000392318.3	+	20	2354	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000392316.1_Missense_Mutation_p.R703C|MYO1B_ENST00000304164.4_Missense_Mutation_p.R703C|MYO1B_ENST00000339514.4_Missense_Mutation_p.R703C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	703					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)			GAGGAAGCAACGCCTGGAGGA	0.413																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2107-2109)Cgc>Tgc		myosin IB							79	79	79					2																	192257829		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192257829C>T	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.2107C>T	2.37:g.192257829C>T	ENSP00000376132:p.Arg703Cys					MYO1B_ENST00000339514.4_Missense_Mutation_p.R703C|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000392316.1_Missense_Mutation_p.R703C|MYO1B_ENST00000304164.4_Missense_Mutation_p.R703C	p.R703C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		20	2354	+			703					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2107C>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826204	0.32237	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.55	2.71	0.32032	.	0.057090	0.64402	D	0.000001	T	0.60340	0.2261	L	0.48877	1.53	0.80722	D	1	B;B	0.28933	0.074;0.228	B;B	0.27170	0.046;0.077	T	0.53063	-0.8491	10	0.36615	T	0.2	.	9.9252	0.41487	0.2628:0.6723:0.0:0.0649	.	703;703	O43795;O43795-2	MYO1B_HUMAN;.	C	703	ENSP00000341903:R703C;ENSP00000376132:R703C;ENSP00000306382:R703C;ENSP00000376130:R703C	ENSP00000306382:R703C	R	+	1	0	MYO1B	191966074	0.993000	0.37304	0.353000	0.25747	0.727000	0.41649	2.408000	0.44574	0.348000	0.23949	-0.284000	0.09977	CGC		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		3	50	0	0	0	1	0	3	50					T	192257829	C	T	192257829	3	4	350	1	0	0	0	0	1	0	0	0	10069	536	19	1	2181	1	MYO1B	2	192257829	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	12537692	192257829	50941544	9	33317											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	49	0	0	0	1	0	16	49					T	209113112	C	T	209113112	3	4	350	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	16855283	209113112	34086261	10	33318											
NGEF	25791	broad.mit.edu	37	chr2	233759484	233759484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgctcactgacagccagcAcgtccaggacgttggagaag	12	13	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:233759484A>G	ENST00000264051.3	-	6	1249	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NGEF_ENST00000539537.1_Missense_Mutation_p.V47A|NGEF_ENST00000373552.4_Missense_Mutation_p.V232A|NGEF_ENST00000409079.1_Missense_Mutation_p.V232A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GACAGCCAGCACGTCCAGGAC	0.602																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(970-972)gTg>gCg		neuronal guanine nucleotide exchange factor							79	71	74					2																	233759484		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233759484A>G	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.971T>C	2.37:g.233759484A>G	ENSP00000264051:p.Val324Ala					NGEF_ENST00000373552.4_Missense_Mutation_p.V232A|NGEF_ENST00000409079.1_Missense_Mutation_p.V232A|NGEF_ENST00000539537.1_Missense_Mutation_p.V47A	p.V324A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	6	1249	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	324			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.971T>C	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896335	0.91962	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.89095	3.005	0.80722	D	1	D;D;D	0.76494	0.979;0.99;0.999	D;P;D	0.72625	0.956;0.897;0.978	T	0.70644	-0.4815	10	0.87932	D	0	-46.3681	15.1186	0.72423	1.0:0.0:0.0:0.0	.	232;232;324	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	A	324;232;214;47;47;47;232	ENSP00000264051:V324A;ENSP00000362653:V232A;ENSP00000439035:V47A;ENSP00000401063:V47A;ENSP00000412614:V47A;ENSP00000387033:V232A	ENSP00000264051:V324A	V	-	2	0	NGEF	233467728	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.917000	0.92751	1.976000	0.57569	0.533000	0.62120	GTG		0.602	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		30	64	0	0	0	1	0	30	64					G	233759484	A	G	233759484	3	3	350	1	0	0	0	0	1	0	0	0	10394	159	6	3	1201	3	NGEF	2	233759484	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	24646372	233759484	9439889	11	33319											
FLNB	2317	broad.mit.edu	37	chr3	58097875	58097875	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacagtatatctttccaGgtgtggaaaatgggaaaccg	10	8	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:58097875G>A	ENST00000295956.4	+	18	2740		c.e18-1		FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000348383.5_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						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)		TATCTTTCCAGGTGTGGAAAA	0.522																																						ENST00000357272.4																			0				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						c.e18-1		filamin B, beta							105	110	108					3																	58097875		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58097875G>A	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.2576-1G>A	3.37:g.58097875G>A						FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	18	2740	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883139	0.91740	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9418	0.92608	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58072915	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.866000	0.99616	2.488000	0.83962	0.655000	0.94253	.		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	66	106	0	0	0	1	0	66	106					A	58097875	G	A	58097875	5	1	350	1	0	0	0	0	0	0	1	0	5934	1014	35	2	2645	2	FLNB	3	58097875	Splice_Site	SNP	G	TCGA-IK-8125-01A-11D-2253-08		58097875	139924555	12	33320											
CRYBG3	131544	broad.mit.edu	37	chr3	97596597	97596597	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacattttaccctgatgacCaggagagcgttggaatttct	9	9	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:97596597C>T	ENST00000182096.4	+	1	779	c.715C>T	c.(715-717)Cag>Tag	p.Q239*		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2187							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCCTGATGACCAGGAGAGCGT	0.468																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(715-717)Cag>Tag		beta-gamma crystallin domain containing 3							73	75	74					3																	97596597		2019	4195	6214	SO:0001587	stop_gained	131544							g.chr3:97596597C>T			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.715C>T	3.37:g.97596597C>T	ENSP00000182096:p.Gln239*						p.Q239*	NM_153605.3	NP_705833.3					1	779	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Nonsense_Mutation	SNP	ENST00000182096.4	37	c.715C>T		.	.	.	.	.	.	.	.	.	.	C	19.74	3.883429	0.72410	.	.	ENSG00000080200	ENST00000182096	.	.	.	5.44	5.44	0.79542	.	1.728010	0.02823	N	0.125765	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	13.978	0.64285	0.0:0.8488:0.1512:0.0	.	.	.	.	X	239	.	ENSP00000182096:Q239X	Q	+	1	0	CRYBG3	99079287	0.991000	0.36638	1.000000	0.80357	0.167000	0.22549	1.107000	0.31110	2.564000	0.86499	0.555000	0.69702	CAG		0.468	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		10	20	0	0	0	1	0	10	20					T	97596597	C	T	97596597	4	4	350	1	0	0	0	0	0	1	0	0	3913	595	21	2	717	2	CRYBG3	3	97596597	Nonsense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	39498722	97596597	100425833	13	33321											
ABI3BP	25890	broad.mit.edu	37	chr3	100523693	100523693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggttttgcagtaacacGctggggcaccttaggaactg	12	8	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:100523693G>A	ENST00000284322.5	-	20	1799	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R518C|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1241C	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	564	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTAACACGCTGGGGCACC	0.398																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3721-3723)Cgt>Tgt		ABI family, member 3 (NESH) binding protein							182	170	174					3																	100523693		1916	4135	6051	SO:0001583	missense	25890					extracellular space		g.chr3:100523693G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1690C>T	3.37:g.100523693G>A	ENSP00000284322:p.Arg564Cys					ABI3BP_ENST00000383691.4_Missense_Mutation_p.R518C|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R564C	p.R1241C			Q7Z7G0	TARSH_HUMAN			51	3830	-			564					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.3721C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.98|12.98	2.100641|2.100641	0.37048|0.37048	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000466947|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000486770;ENST00000482765	.|T;T;T	.|0.56776	.|2.06;0.44;1.55	5.18|5.18	1.04|1.04	0.20106|0.20106	.|.	.|1.178940	.|0.05926	.|N	.|0.634394	T|T	0.59183|0.59183	0.2175|0.2175	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.959;1.0;0.999	.|P;B;P;P	.|0.61722	.|0.719;0.416;0.893;0.719	T|T	0.43556|0.43556	-0.9384|-0.9384	5|10	.|0.46703	.|T	.|0.11	2.6408|2.6408	2.9177|2.9177	0.05759|0.05759	0.0897:0.1578:0.4278:0.3248|0.0897:0.1578:0.4278:0.3248	.|.	.|518;564;1241;248	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	V|C	121|1241;564;248;518;2;113	.|ENSP00000420524:R1241C;ENSP00000284322:R564C;ENSP00000373189:R518C	.|ENSP00000284322:R564C	A|R	-|-	2|1	0|0	ABI3BP|ABI3BP	102006383|102006383	0.001000|0.001000	0.12720|0.12720	0.051000|0.051000	0.19133|0.19133	0.618000|0.618000	0.37518|0.37518	0.619000|0.619000	0.24388|0.24388	0.524000|0.524000	0.28502|0.28502	0.543000|0.543000	0.68304|0.68304	GCG|CGT		0.398	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			13	33	0	0	0	1	0	13	33					A	100523693	G	A	100523693	3	1	350	1	0	0	0	0	1	0	0	0	91	1087	38	1	1601	1	ABI3BP	3	100523693	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	2927096	100523693	97498737	14	33322											
ENAM	10117	broad.mit.edu	37	chr4	71508741	71508741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccatatgaatcagaaaCtaatcagtcagaattaaagc	7	7	3	3	rs576885761	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:71508741C>T	ENST00000396073.3	+	9	1879	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	533					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATCAGAAACTAATCAGTCA	0.413																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1597-1599)aCt>aTt		enamelin							93	93	93					4																	71508741		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508741C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1598C>T	4.37:g.71508741C>T	ENSP00000379383:p.Thr533Ile					ENAM_ENST00000472903.1_Intron	p.T533I	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1879	+			533					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1598C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	4.769	0.142960	0.09083	.	.	ENSG00000132464	ENST00000396073	T	0.34472	1.36	5.93	2.75	0.32379	.	0.202600	0.35525	N	0.003151	T	0.27098	0.0664	L	0.52364	1.645	0.30336	N	0.786158	B	0.29671	0.254	B	0.32022	0.139	T	0.10847	-1.0612	10	0.29301	T	0.29	-9.7108	3.7285	0.08484	0.1902:0.5961:0.0:0.2137	.	533	Q9NRM1	ENAM_HUMAN	I	533	ENSP00000379383:T533I	ENSP00000379383:T533I	T	+	2	0	ENAM	71727605	0.871000	0.30034	0.998000	0.56505	0.205000	0.24178	0.741000	0.26202	1.418000	0.47098	0.655000	0.94253	ACT		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		27	52	0	0	0	1	0	27	52					T	71508741	C	T	71508741	3	4	350	1	0	0	0	0	1	0	0	0	5112	565	20	2	1628	2	ENAM	4	71508741	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		71508741	119645535	15	33323											
NAF1	92345	broad.mit.edu	37	chr4	164050323	164050323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaatcctgaagtctccTgagataccatatgttctgag	9	8	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:164050323T>C	ENST00000274054.2	-	8	1404	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	404					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)				TGAAGTCTCCTGAGATACCAT	0.458																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1210-1212)cAg>cGg		nuclear assembly factor 1 ribonucleoprotein							87	95	93					4																	164050323		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050323T>C		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		ENST00000274054.2:c.1211A>G	4.37:g.164050323T>C	ENSP00000274054:p.Gln404Arg					NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.Q404R	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1404	-	all_hematologic(180;0.166)	Prostate(90;0.109)	404					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1211A>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	T	8.744	0.919573	0.17982	.	.	ENSG00000145414	ENST00000274054	T	0.43688	0.94	4.38	0.0493	0.14289	.	0.560968	0.18627	N	0.135681	T	0.25644	0.0624	L	0.32530	0.975	0.28218	N	0.926659	B	0.29909	0.261	B	0.29353	0.101	T	0.13926	-1.0491	10	0.27082	T	0.32	-3.7229	6.0716	0.19893	0.1532:0.0:0.3103:0.5365	.	404	Q96HR8	NAF1_HUMAN	R	404	ENSP00000274054:Q404R	ENSP00000274054:Q404R	Q	-	2	0	NAF1	164269773	0.993000	0.37304	0.182000	0.23118	0.206000	0.24218	1.556000	0.36288	-0.058000	0.13177	0.482000	0.46254	CAG		0.458	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		9	42	0	0	0	1	0	9	42					C	164050323	T	C	164050323	3	2	350	1	0	0	0	0	1	0	0	0	10140	1580	55	3	418	3	NAF1	4	164050323	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	92541582	164050323	27103953	16	33324											
FAT1	2195	broad.mit.edu	37	chr4	187521295	187521295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgctgacggatgtggcCaccaaaaaacacatagttat	8	11	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:187521295C>T	ENST00000441802.2	-	22	12069	c.11860G>A	c.(11860-11862)Ggc>Agc	p.G3954S	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3954	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						CGGATGTGGCCACCAAAAAAC	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(11860-11862)Ggc>Agc		FAT atypical cadherin 1							102	103	103					4																	187521295		1976	4148	6124	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521295C>T	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.11860G>A	4.37:g.187521295C>T	ENSP00000406229:p.Gly3954Ser	HNSCC(5;0.00058)					p.G3954S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12069	-			3954			Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11860G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065625	0.93898	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.86562	-2.14	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.052190	0.85682	D	0.000000	D	0.93723	0.7994	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93775	0.7078	10	0.56958	D	0.05	.	18.7161	0.91677	0.0:1.0:0.0:0.0	.	3954	Q14517	FAT1_HUMAN	S	3954;3956	ENSP00000406229:G3954S	ENSP00000260147:G3956S	G	-	1	0	FAT1	187758289	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.490000	0.81461	2.726000	0.93360	0.655000	0.94253	GGC		0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		5	41	0	0	0	1	0	5	41					T	187521295	C	T	187521295	3	4	350	1	0	0	0	0	1	0	0	0	5689	594	21	2	1930	2	FAT1	4	187521295	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23470972	187521295	3632981	17	33325											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783264	140783264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaacggatttaccgaGttaaagtccttgagaacgtg	10	8	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:140783264G>A	ENST00000573521.1	+	1	745	c.745G>A	c.(745-747)Gtt>Att	p.V249I	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	249	Cadherin 3. {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)			GATTTACCGAGTTAAAGTCCT	0.537																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(745-747)Gtt>Att									46	51	49					5																	140783264		1970	4157	6127	SO:0001583	missense	0							g.chr5:140783264G>A	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.745G>A	5.37:g.140783264G>A	ENSP00000460274:p.Val249Ile					PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.V249I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	745	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.745G>A	CCDS58981.1																																																																																				0.537	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		4	72	0	0	0	1	0	4	72					A	140783264	G	A	140783264	3	1	350	1	0	0	0	0	1	0	0	0	11561	1029	36	2	747	2	PCDHGA9	5	140783264	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		140783264	40131996	18	33326											
MAML1	9794	broad.mit.edu	37	chr5	179192669	179192669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagaactgaagcaggagCctgtcgaagacctgccttgc	11	10	0	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:179192669C>T	ENST00000292599.3	+	2	921	c.658C>T	c.(658-660)Cct>Tct	p.P220S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCAGGAGCCTGTCGAAGA	0.517																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(658-660)Cct>Tct		mastermind-like 1 (Drosophila)							68	59	62					5																	179192669		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192669C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.658C>T	5.37:g.179192669C>T	ENSP00000292599:p.Pro220Ser					MAML1_ENST00000503050.1_3'UTR	p.P220S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	921	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	220						Missense_Mutation	SNP	ENST00000292599.3	37	c.658C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934797	0.73442	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.48201	0.82	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.69993	0.3173	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.71414	0.966;0.973	T	0.75371	-0.3341	10	0.87932	D	0	-11.3637	18.0605	0.89375	0.0:1.0:0.0:0.0	.	257;220	Q59GH4;Q92585	.;MAML1_HUMAN	S	220;257	ENSP00000292599:P220S	ENSP00000292599:P220S	P	+	1	0	MAML1	179125275	1.000000	0.71417	0.968000	0.41197	0.839000	0.47603	7.442000	0.80503	2.251000	0.74343	0.455000	0.32223	CCT		0.517	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	40	0	0	0	1	0	4	40					T	179192669	C	T	179192669	3	4	350	1	0	0	0	0	1	0	0	0	9205	739	26	2	664	2	MAML1	5	179192669	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	38409405	179192669	1722591	19	33327											
FAM50B	26240	broad.mit.edu	37	chr6	3850550	3850550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaccggctccgagaggagCtgcgccaagagtgggaggcg	18	10	0	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:3850550C>A	ENST00000380274.1	+	1	931	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	FAM50B_ENST00000380272.3_Missense_Mutation_p.L169M			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	169						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCGAGAGGAGCTGCGCCAAGA	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(505-507)Ctg>Atg		family with sequence similarity 50, member B							28	30	29					6																	3850550		2202	4299	6501	SO:0001583	missense	26240					nucleus		g.chr6:3850550C>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.505C>A	6.37:g.3850550C>A	ENSP00000369627:p.Leu169Met					FAM50B_ENST00000380272.3_Missense_Mutation_p.L169M	p.L169M			Q9Y247	FA50B_HUMAN			1	931	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	169					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.505C>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410450	0.83340	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000002	T	0.81626	0.4862	M	0.89840	3.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84769	0.0766	9	0.59425	D	0.04	-32.8064	14.6044	0.68466	0.0:1.0:0.0:0.0	.	169	Q9Y247	FA50B_HUMAN	M	169	.	ENSP00000369625:L169M	L	+	1	2	FAM50B	3795549	1.000000	0.71417	0.988000	0.46212	0.827000	0.46813	5.969000	0.70422	2.383000	0.81215	0.485000	0.47835	CTG		0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		6	25	1	0	1	1	1	6	25					A	3850550	C	A	3850550	3	1	350	1	0	0	0	0	1	0	0	0	5578	796	28	4	507	4	FAM50B	6	3850550	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3850550	167264517	20	33328											
NOTCH4	4855	broad.mit.edu	37	chr6	32166813	32166813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagagctccatgctctcgGcgtcgacgccggatgagctg	14	13	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32166813G>A	ENST00000375023.3	-	24	4563	c.4425C>T	c.(4423-4425)cgC>cgT	p.R1475R	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1475	Poly-Arg.				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						CATGCTCTCGGCGTCGACGCC	0.677																																						ENST00000375023.3																			0				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						c.(4423-4425)cgC>cgT		notch 4							55	69	64					6																	32166813		1508	2707	4215	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32166813G>A		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.4425C>T	6.37:g.32166813G>A							p.R1475R	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			24	4563	-			1475			Poly-Arg.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.4425C>T	CCDS34420.1																																																																																				0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			32	41	0	0	0	1	0	32	41					A	32166813	G	A	32166813	2	1	350	1	0	0	0	0	0	0	0	1	10551	1190	42	2		2	NOTCH4	6	32166813	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	28316263	32166813	138948254	21	33329											
NOTCH4	4855	broad.mit.edu	37	chr6	32190325	32190325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagcactgtgggcggccCgaggcctggatgtggcagcg	19	11	0	0	rs201835213	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32190325C>T	ENST00000375023.3	-	3	552	c.414G>A	c.(412-414)tcG>tcA	p.S138S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	138	EGF-like 3. {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						GTGGGCGGCCCGAGGCCTGGA	0.647													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18668	0.0		0.0	False		,,,				2504	0.001					ENST00000375023.3																			0				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						c.(412-414)tcG>tcA		notch 4							29	32	31					6																	32190325		2195	4295	6490	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190325C>T		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.414G>A	6.37:g.32190325C>T							p.S138S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			3	552	-			138			EGF-like 3.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.414G>A	CCDS34420.1																																																																																				0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			5	57	0	0	0	1	0	5	57					T	32190325	C	T	32190325	2	4	350	1	0	0	0	0	0	0	0	1	10551	639	23	1		1	NOTCH4	6	32190325	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23512	32190325	138924742	22	33330											
PNPLA1	285848	broad.mit.edu	37	chr6	36262065	36262065	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcaggacatctgtccCcgggactgcccggccatctt	13	15	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:36262065C>A	ENST00000394571.2	+	4	603	c.603C>A	c.(601-603)ccC>ccA	p.P201P	PNPLA1_ENST00000388715.3_Silent_p.P106P|PNPLA1_ENST00000312917.5_Silent_p.P115P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	201					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACATCTGTCCCCGGGACTGCC	0.607																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(601-603)ccC>ccA		patatin-like phospholipase domain containing 1							100	79	86					6																	36262065		2203	4300	6503	SO:0001819	synonymous_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36262065C>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.603C>A	6.37:g.36262065C>A						PNPLA1_ENST00000388715.3_Silent_p.P106P|PNPLA1_ENST00000312917.5_Silent_p.P115P	p.P201P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			4	603	+			201					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	c.603C>A	CCDS54997.1																																																																																				0.607	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		22	112	1	0	9.57634e-11	1	9.70403e-11	22	112					A	36262065	C	A	36262065	2	1	350	1	0	0	0	0	0	0	0	1	12164	610	22	4		4	PNPLA1	6	36262065	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	4071740	36262065	134853002	23	33331											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974286	42974286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcccagcaatagcacgcCgccccccacgcagctcagca	9	20	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:42974286C>T	ENST00000485511.1	+	3	370	c.191C>T	c.(190-192)cCg>cTg	p.P64L	PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.P56L|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.P64L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATAGCACGCCGCCCCCCACG	0.622																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(190-192)cCg>cTg		protein phosphatase 2, regulatory subunit B', delta							58	67	64					6																	42974286		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974286C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	protein-coding gene	gene with protein product		601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.191C>T	6.37:g.42974286C>T	ENSP00000417963:p.Pro64Leu					PPP2R5D_ENST00000472118.1_Missense_Mutation_p.P56L|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.P64L|PPP2R5D_ENST00000461010.1_Intron	p.P64L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		3	370	+			64					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.191C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844935	0.51164	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610	T;T;T	0.52983	0.73;0.86;0.64	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.80616	2.505	0.80722	D	1	P;D	0.71674	0.946;0.998	B;P	0.62491	0.436;0.903	T	0.56013	-0.8049	10	0.08599	T	0.76	-19.2065	17.4604	0.87619	0.0:1.0:0.0:0.0	.	64;64	Q14738;Q14738-2	2A5D_HUMAN;.	L	64;64;56;64	ENSP00000417963:P64L;ENSP00000377669:P64L;ENSP00000420550:P56L	ENSP00000377669:P64L	P	+	2	0	PPP2R5D	43082264	1.000000	0.71417	0.452000	0.26994	0.099000	0.18886	7.339000	0.79282	2.793000	0.96121	0.561000	0.74099	CCG		0.622	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		58	97	0	0	0	1	0	58	97					T	42974286	C	T	42974286	3	4	350	1	0	0	0	0	1	0	0	0	12395	652	23	1	201	1	PPP2R5D	6	42974286	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	6712221	42974286	128140781	24	33332											
TTBK1	84630	broad.mit.edu	37	chr6	43251409	43251409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggggcccgagcGcccctggagaacggcctcgc	19	13	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2929-2931)gcG>gcA		tau tubulin kinase 1							21	26	24					6																	43251409		2200	4296	6496	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251409G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2931G>A	6.37:g.43251409G>A							p.A977A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3014	+			977					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.2931G>A	CCDS34455.1																																																																																				0.697	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			25	31	0	0	0	1	0	25	31					A	43251409	G	A	43251409	2	1	350	1	0	0	0	0	0	0	0	1	16673	1074	38	1		1	TTBK1	6	43251409	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	277123	43251409	127863658	25	33333											
CRIP3	401262	broad.mit.edu	37	chr6	43275627	43275627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtggcagtatggcctcCcattgtgctgggcacaagca	13	11	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43275627C>T	ENST00000274990.4	-	3	150	c.146G>A	c.(145-147)gGg>gAg	p.G49E	CRIP3_ENST00000372569.3_Missense_Mutation_p.G49E|ZNF318_ENST00000607252.1_5'UTR			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	49	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTATGGCCTCCCATTGTGCTG	0.607																																						ENST00000372569.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(145-147)gGg>gAg		cysteine-rich protein 3							39	34	36					6																	43275627		2203	4300	6503	SO:0001583	missense	401262					cytoplasm	zinc ion binding	g.chr6:43275627C>T	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.146G>A	6.37:g.43275627C>T	ENSP00000274990:p.Gly49Glu					CRIP3_ENST00000274990.4_Missense_Mutation_p.G49E|ZNF318_ENST00000607252.1_5'UTR	p.G49E	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		3	150	-			49			LIM zinc-binding 1.		A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	37	c.146G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418347	0.83559	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	D;D	0.88354	-2.37;-2.37	5.52	5.52	0.82312	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93522	0.6862	9	.	.	.	-44.6176	15.295	0.73898	0.0:1.0:0.0:0.0	.	49;49	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	E	49	ENSP00000361650:G49E;ENSP00000274990:G49E	.	G	-	2	0	CRIP3	43383605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.742000	0.62103	2.748000	0.94277	0.655000	0.94253	GGG		0.607	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			3	30	0	0	0	1	0	3	30					T	43275627	C	T	43275627	3	4	350	1	0	0	0	0	1	0	0	0	3876	623	22	2	492	2	CRIP3	6	43275627	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	24218	43275627	127839440	26	33334											
ZNF292	23036	broad.mit.edu	37	chr6	87943087	87943087	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatcttgttggatatgAgaattaaacatctaatcaaa	6	7	3	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:87943087A>G	ENST00000369577.3	+	5	626	c.583A>G	c.(583-585)Aga>Gga	p.R195G	ZNF292_ENST00000339907.4_Missense_Mutation_p.R190G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	195						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)		GTTGGATATGAGAATTAAACA	0.308																																						ENST00000369577.3																			0				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						c.(583-585)Aga>Gga		zinc finger protein 292							84	80	81					6																	87943087		1826	4078	5904	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943087A>G	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.583A>G	6.37:g.87943087A>G	ENSP00000358590:p.Arg195Gly					ZNF292_ENST00000339907.4_Missense_Mutation_p.R190G	p.R195G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	626	+		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)	195					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.583A>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439114	0.63067	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.37411	1.27;1.2	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.77313	2.365	0.43183	D	0.995001	D	0.89917	1.0	D	0.85130	0.997	T	0.58679	-0.7594	10	0.87932	D	0	.	11.2689	0.49127	0.7244:0.2756:0.0:0.0	.	195	O60281	ZN292_HUMAN	G	195;190	ENSP00000358590:R195G;ENSP00000342847:R190G	ENSP00000342847:R190G	R	+	1	2	ZNF292	87999806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.309000	0.43699	2.158000	0.67659	0.460000	0.39030	AGA		0.308	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	21	0	0	0	1	0	8	21					G	87943087	A	G	87943087	3	3	350	1	0	0	0	0	1	0	0	0	17823	296	11	3	601	3	ZNF292	6	87943087	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	44667460	87943087	83171980	27	33335											
KIAA1147	57189	broad.mit.edu	37	chr7	141362626	141362626	+	Frame_Shift_Del	DEL	T	T	-													ctccaacaaagtctgaaataTccggttgttttgttctagga							TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr7:141362626delT	ENST00000536163.1	-	9	1197	c.1198delA	c.(1198-1200)atafs	p.I400fs	RP5-894A10.6_ENST00000602609.1_RNA|KIAA1147_ENST00000482493.1_Frame_Shift_Del_p.I296fs	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	400										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTCTGAAATATCCGGTTGTTT	0.502																																						ENST00000536163.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12						c.(1198-1200)tafs		KIAA1147							31	31	31					7																	141362626		1850	4090	5940	SO:0001589	frameshift_variant	57189							g.chr7:141362626delT	AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.1198delA	7.37:g.141362626delT	ENSP00000445768:p.Ile400fs					KIAA1147_ENST00000482493.1_Frame_Shift_Del_p.I296fs	p.I400fs	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN			9	1197	-	Melanoma(164;0.0171)		400					Q9ULS3	Frame_Shift_Del	DEL	ENST00000536163.1	37	c.1198delA	CCDS47726.1																																																																																				0.502	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			10	3						10	3	---	---	---	---	-	141362626	T	-	141362626	7	5	350	1	0	1	0	1	0	0	0	0	8210	1435	50	0	173	0	KIAA1147	7	141362626	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08		141362626	17776037	28	33336											
RUNX1T1	862	broad.mit.edu	37	chr8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtgatggtgcttctcccagtCtttgtgctggcaaaatgagc	12	9	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H	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)	543					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)			TTCTCCCAGTCTTTGTGCTGG	0.567																																						ENST00000523629.1																			0				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						c.(1627-1629)Gac>Cac		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							90	79	83					8																	92972658		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972658C>G	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.1627G>C	8.37:g.92972658C>G	ENSP00000428543:p.Asp543His					RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H	p.D543H	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	BRCA - Breast invasive adenocarcinoma(11;0.0141)		12	2081	-			543					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1627G>C	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233862	0.79688	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.74;0.68;0.76;0.76;0.76;0.71;0.74	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.28776	0.89	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;1.0;0.999	T	0.59968	-0.7354	10	0.52906	T	0.07	-24.1858	20.1802	0.98196	0.0:1.0:0.0:0.0	.	554;506;543;516	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	H	543;516;543;506;506;506;554;516	ENSP00000428543:D543H;ENSP00000379520:D516H;ENSP00000265814:D543H;ENSP00000353504:D506H;ENSP00000390137:D506H;ENSP00000428742:D506H;ENSP00000402257:D554H;ENSP00000430728:D516H	ENSP00000265814:D543H	D	-	1	0	RUNX1T1	93041834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GAC		0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		9	36	0	0	0	1	0	9	36					G	92972658	C	G	92972658	3	3	350	1	0	0	0	0	1	0	0	0	13747	913	32	4	191	4	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		92972658	53391364	29	33337											
PLEC	5339	broad.mit.edu	37	chr8	144995732	144995732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacaccctccttcacagCctcgttgacggtcagccgcc	7	20	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:144995732C>T	ENST00000322810.4	-	32	8837	c.8668G>A	c.(8668-8670)Gct>Act	p.A2890T	PLEC_ENST00000354589.3_Missense_Mutation_p.A2753T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2780T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2757T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2753T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2776T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2721T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2739T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2731T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2890	Globular 2.				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						TCCTTCACAGCCTCGTTGACG	0.687																																						ENST00000322810.4																			0				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						c.(8668-8670)Gct>Act		plectin							29	37	34					8																	144995732		2072	4189	6261	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995732C>T	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.8668G>A	8.37:g.144995732C>T	ENSP00000323856:p.Ala2890Thr					PLEC_ENST00000356346.3_Missense_Mutation_p.A2739T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2776T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2780T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2757T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2721T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2753T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2731T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2753T	p.A2890T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8837	-			2890			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8668G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416390	0.25552	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	4.44	4.44	0.53790	.	0.089485	0.42964	U	0.000629	D	0.98648	0.9547	H	0.95539	3.685	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.63880	0.992;0.992;0.992;0.993;0.992;0.992;0.992;0.992	P;P;P;P;P;P;P;P	0.58013	0.74;0.74;0.74;0.831;0.74;0.74;0.74;0.74	D	0.99421	1.0933	10	0.59425	D	0.04	.	17.2034	0.86912	0.0:1.0:0.0:0.0	.	2780;2739;2731;2890;2721;2753;2757;2753	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	2753;2757;2753;2721;2890;2731;2739;2780;2776	ENSP00000344848:A2753T;ENSP00000350277:A2757T;ENSP00000346602:A2753T;ENSP00000381756:A2721T;ENSP00000323856:A2890T;ENSP00000347044:A2731T;ENSP00000348702:A2739T;ENSP00000388180:A2780T;ENSP00000434583:A2776T	ENSP00000323856:A2890T	A	-	1	0	PLEC	145067720	1.000000	0.71417	0.958000	0.39756	0.210000	0.24377	4.539000	0.60657	2.470000	0.83445	0.442000	0.29010	GCT		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		26	36	0	0	0	1	0	26	36					T	144995732	C	T	144995732	3	4	350	1	0	0	0	0	1	0	0	0	12052	739	26	2	5390	2	PLEC	8	144995732	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	52023074	144995732	1368290	30	33338											
GNE	10020	broad.mit.edu	37	chr9	36249251	36249251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaaagaactcaggttcGgttttaatgccaaacatgat	8	7	2	2	rs147290887		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:36249251G>A	ENST00000539815.1	-	1	142	c.102C>T	c.(100-102)acC>acT	p.T34T	GNE_ENST00000543356.2_Intron|GNE_ENST00000539208.1_Intron|GNE_ENST00000377902.5_Silent_p.T34T|GNE_ENST00000396594.3_Silent_p.T65T|GNE_ENST00000447283.2_Silent_p.T34T			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	34					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)			ACTCAGGTTCGGTTTTAATGC	0.408																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(193-195)acC>acT		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							175	146	156					9																	36249251		2203	4300	6503	SO:0001819	synonymous_variant	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36249251G>A	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.102C>T	9.37:g.36249251G>A						GNE_ENST00000447283.2_Silent_p.T34T|GNE_ENST00000377902.5_Silent_p.T34T|GNE_ENST00000539815.1_Silent_p.T34T|GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron	p.T65T	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		2	306	-			34					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Silent	SNP	ENST00000539815.1	37	c.195C>T	CCDS6602.1																																																																																				0.408	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		8	52	0	0	0	1	0	8	52					A	36249251	G	A	36249251	2	1	350	1	0	0	0	0	0	0	0	1	6522	1103	39	1		1	GNE	9	36249251	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		36249251	104964180	31	33339											
TBC1D2	55357	broad.mit.edu	37	chr9	100965580	100965580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacttacctgggatgccGtcagcgtgttgcagtagtaa	11	12	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:100965580G>A	ENST00000375064.1	-	10	2299	c.2261C>T	c.(2260-2262)aCg>aTg	p.T754M	TBC1D2_ENST00000375063.1_Missense_Mutation_p.T294M|TBC1D2_ENST00000342112.5_Missense_Mutation_p.T536M|TBC1D2_ENST00000375066.5_Missense_Mutation_p.T754M	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	754	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGGGATGCCGTCAGCGTGTT	0.587																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2260-2262)aCg>aTg		TBC1 domain family, member 2							136	120	126					9																	100965580		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100965580G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2261C>T	9.37:g.100965580G>A	ENSP00000364205:p.Thr754Met					TBC1D2_ENST00000375064.1_Missense_Mutation_p.T754M|TBC1D2_ENST00000342112.5_Missense_Mutation_p.T536M|TBC1D2_ENST00000375063.1_Missense_Mutation_p.T294M	p.T754M	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	10	2352	-		Myeloproliferative disorder(762;0.0255)	754			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.2261C>T		.	.	.	.	.	.	.	.	.	.	G	5.595	0.294503	0.10567	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.63	-0.472	0.12115	Rab-GAP/TBC domain (5);	0.593937	0.18094	N	0.151889	T	0.06735	0.0172	N	0.21545	0.675	0.09310	N	1	B;B	0.24721	0.11;0.09	B;B	0.17098	0.017;0.01	T	0.29579	-1.0007	10	0.52906	T	0.07	.	9.4317	0.38615	0.7506:0.0:0.2494:0.0	.	754;754	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	M	754;754;536;294	ENSP00000364205:T754M;ENSP00000364207:T754M;ENSP00000341567:T536M;ENSP00000364203:T294M	ENSP00000341567:T536M	T	-	2	0	TBC1D2	100005401	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	2.088000	0.41663	0.008000	0.14787	-0.345000	0.07892	ACG		0.587	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		5	157	0	0	0	1	0	5	157					A	100965580	G	A	100965580	3	1	350	1	0	0	0	0	1	0	0	0	15605	1145	40	1	508	1	TBC1D2	9	100965580	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	64716329	100965580	40247851	32	33340											
FPGS	2356	broad.mit.edu	37	chr9	130570869	130570869	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtccgatgctggaggcCctcgaggaaggggggccgcc	18	12	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:130570869C>G	ENST00000373247.2	+	10	905	c.855C>G	c.(853-855)gcC>gcG	p.A285A	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000393706.2_Silent_p.A259A|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Silent_p.A235A	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	285					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TGCTGGAGGCCCTCGAGGAAG	0.687																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(703-705)gcC>gcG		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						14	14	14					9																	130570869		2199	4297	6496	SO:0001819	synonymous_variant	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130570869C>G		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.855C>G	9.37:g.130570869C>G						FPGS_ENST00000373245.1_Intron|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Silent_p.A285A|FPGS_ENST00000393706.2_Silent_p.A259A	p.A235A	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			10	914	+			285					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	ENST00000373247.2	37	c.705C>G	CCDS35148.1																																																																																				0.687	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			17	20	0	0	0	1	0	17	20					G	130570869	C	G	130570869	2	3	350	1	0	0	0	0	0	0	0	1	6036	610	22	4		4	FPGS	9	130570869	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	29605289	130570869	10642562	33	33341											
NOTCH1	4851	broad.mit.edu	37	chr9	139412597	139412597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggcacctacccagcgagCactcatccacgtcctggctg	10	17	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:139412597C>A	ENST00000277541.6	-	7	1322	c.1247G>T	c.(1246-1248)tGc>tTc	p.C416F	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	416	EGF-like 11; 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)		ACCCAGCGAGCACTCATCCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(1246-1248)tGc>tTc		notch 1							42	45	44					9																	139412597		2019	4168	6187	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412597C>A	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.1247G>T	9.37:g.139412597C>A	ENSP00000277541:p.Cys416Phe	HNSCC(8;0.001)					p.C416F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1322	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	416			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1247G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413723	0.83449	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.82	4.82	0.62117	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	0.99809	0.9917	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96455	0.9337	10	0.72032	D	0.01	.	16.8825	0.86067	0.0:1.0:0.0:0.0	.	416	P46531	NOTC1_HUMAN	F	416	ENSP00000277541:C416F	ENSP00000277541:C416F	C	-	2	0	NOTCH1	138532418	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	7.304000	0.78882	2.223000	0.72356	0.514000	0.50259	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	6	1	0	5.68852e-11	1	5.84227e-11	6	6					A	139412597	C	A	139412597	3	1	350	1	0	0	0	0	1	0	0	0	10547	710	25	4	6532	4	NOTCH1	9	139412597	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	8841728	139412597	1800834	34	33342											
KIAA1217	56243	broad.mit.edu	37	chr10	24832988	24832988	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggaactaaaacagggAagaagactttgcaagtggta	12	7	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:24832988A>T	ENST00000376454.3	+	19	4819	c.4789A>T	c.(4789-4791)Aag>Tag	p.K1597*	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.K1280*|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1597					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						TAAAACAGGGAAGAAGACTTT	0.463																																						ENST00000376451.2																			0				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						c.(3838-3840)Aag>Tag		KIAA1217							106	107	107					10																	24832988		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832988A>T	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.4789A>T	10.37:g.24832988A>T	ENSP00000365637:p.Lys1597*					KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.K1597*	p.K1280*			Q5T5P2	SKT_HUMAN			14	4098	+			1597					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.3838A>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	43	10.024211	0.99319	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.35	5.35	0.76521	.	0.056516	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3103	0.74026	1.0:0.0:0.0:0.0	.	.	.	.	X	1280;1597;1280;1280	.	ENSP00000365634:K1280X	K	+	1	0	KIAA1217	24872994	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	8.897000	0.92532	2.018000	0.59344	0.459000	0.35465	AAG		0.463	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		11	91	0	0	0	1	0	11	91					T	24832988	A	T	24832988	4	4	350	1	0	0	0	0	0	1	0	0	8216	247	9	5	4863	5	KIAA1217	10	24832988	Nonsense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		24832988	110701759	35	33343											
AGAP5	729092	broad.mit.edu	37	chr10	75457306	75457306	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttcaggcatctcctGgtcacgaatgtggtgcatgt	10	11	3	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:75457306G>A	ENST00000374094.4	-	1	248	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	RP11-574K11.28_ENST00000580790.1_RNA|AGAP5_ENST00000443782.2_Nonsense_Mutation_p.Q70*|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	70					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						GGCATCTCCTGGTCACGAATG	0.592																																						ENST00000443782.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(208-210)Cag>Tag		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							137	120	125					10																	75457306		692	1591	2283	SO:0001587	stop_gained	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457306G>A		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.208C>T	10.37:g.75457306G>A	ENSP00000363207:p.Gln70*					RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Nonsense_Mutation_p.Q70*	p.Q70*			A6NIR3	AGAP5_HUMAN			1	333	-			70					A8MSN5	Nonsense_Mutation	SNP	ENST00000374094.4	37	c.208C>T	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	16.05	3.013319	0.54468	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	.	.	.	1.4	1.4	0.22301	.	0.119796	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	6.2475	0.20827	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000363207:Q70X	Q	-	1	0	AGAP5	75127312	1.000000	0.71417	0.997000	0.53966	0.042000	0.13812	0.585000	0.23879	1.094000	0.41399	0.184000	0.17185	CAG		0.592	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		13	172	0	0	0	1	0	13	172					A	75457306	G	A	75457306	4	1	350	1	0	0	0	0	0	1	0	0	371	1357	47	2	1884	2	AGAP5	10	75457306	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	50624318	75457306	60077441	36	33344											
HELLS	3070	broad.mit.edu	37	chr10	96352241	96352241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcagcaggcttgatggGtccatgtcttactcagagag	11	9	3	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:96352241G>A	ENST00000348459.5	+	17	2046	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Silent_p.G549G|HELLS_ENST00000371332.4_Silent_p.G693G|RP11-119K6.6_ENST00000432120.1_RNA	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)		GGCTTGATGGGTCCATGTCTT	0.343																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1939-1941)ggG>ggA		helicase, lymphoid-specific							89	89	89					10																	96352241		2203	4300	6503	SO:0001819	synonymous_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96352241G>A	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.1941G>A	10.37:g.96352241G>A						HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Silent_p.G549G|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Silent_p.G693G	p.G647G	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	17	2046	+		Colorectal(252;0.0429)	647			Helicase C-terminal.			Silent	SNP	ENST00000348459.5	37	c.1941G>A	CCDS7434.1																																																																																				0.343	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		8	31	0	0	0	1	0	8	31					A	96352241	G	A	96352241	2	1	350	1	0	0	0	0	0	0	0	1	7046	1248	44	2		2	HELLS	10	96352241	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	20894935	96352241	39182506	37	33345											
SLIT1	6585	broad.mit.edu	37	chr10	98764460	98764460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccctacctgtagatggCagagctggggtagctgcctg	15	10	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:98764460C>T	ENST00000266058.4	-	33	3945	c.3700G>A	c.(3700-3702)Gcc>Acc	p.A1234T	SLIT1_ENST00000371070.4_Missense_Mutation_p.A1234T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1234	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGATGGCAGAGCTGGGG	0.602																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3700-3702)Gcc>Acc		slit homolog 1 (Drosophila)							181	143	156					10																	98764460		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98764460C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3700G>A	10.37:g.98764460C>T	ENSP00000266058:p.Ala1234Thr					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1234T	p.A1234T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	33	3945	-		Colorectal(252;0.162)	1234			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3700G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	8.868	0.948539	0.18356	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.68903	-0.36;-0.36	4.38	4.38	0.52667	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.155015	0.56097	D	0.000022	T	0.41282	0.1152	N	0.04355	-0.22	0.80722	D	1	B	0.25272	0.122	B	0.22152	0.038	T	0.45848	-0.9233	10	0.02654	T	1	.	17.1657	0.86816	0.0:1.0:0.0:0.0	.	1234	O75093	SLIT1_HUMAN	T	1234	ENSP00000266058:A1234T;ENSP00000360109:A1234T	ENSP00000266058:A1234T	A	-	1	0	SLIT1	98754450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.774000	0.62339	2.271000	0.75665	0.555000	0.69702	GCC		0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	49	0	0	0	1	0	14	49					T	98764460	C	T	98764460	3	4	350	1	0	0	0	0	1	0	0	0	14739	710	25	2	924	2	SLIT1	10	98764460	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2412219	98764460	36770287	38	33346											
DIXDC1	85458	broad.mit.edu	37	chr11	111835363	111835363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacctgcgacaagatctcCgggatggggtgatcctggca	15	10	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:111835363C>T	ENST00000529225.1	+	3	428	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000440460.2_Missense_Mutation_p.R51W|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R51W	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	51	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAAGATCTCCGGGATGGGGT	0.517																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(151-153)Cgg>Tgg		DIX domain containing 1							65	69	68					11																	111835363		1957	4149	6106	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111835363C>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.148C>T	11.37:g.111835363C>T	ENSP00000434130:p.Arg50Trp					DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000529225.1_Missense_Mutation_p.R50W|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R51W	p.R51W	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	2	448	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-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)	51			CH.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000529225.1	37	c.151C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.174128	0.78452	.	.	ENSG00000150764	ENST00000529225;ENST00000440460;ENST00000531396	T;T;T	0.62232	0.04;0.04;0.04	4.96	4.96	0.65561	Calponin homology domain (5);	0.000000	0.49916	D	0.000127	T	0.80232	0.4585	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.984;0.987	T	0.83111	-0.0123	10	0.87932	D	0	-20.0946	14.8726	0.70471	0.1437:0.8563:0.0:0.0	.	51;51;50	Q155Q3;Q155Q3-4;E9PRV4	DIXC1_HUMAN;.;.	W	50;51;51	ENSP00000434130:R50W;ENSP00000394352:R51W;ENSP00000432959:R51W	ENSP00000394352:R51W	R	+	1	2	DIXDC1	111340573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.394000	0.59671	2.590000	0.87494	0.467000	0.42956	CGG		0.517	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		7	9	0	0	0	1	0	7	9					T	111835363	C	T	111835363	3	4	350	1	0	0	0	0	1	0	0	0	4541	643	23	1	157	1	DIXDC1	11	111835363	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		111835363	23171153	39	33347											
TTC12	54970	broad.mit.edu	37	chr11	113215006	113215006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcagaggaaaaccagcGtgtgctagtgatacaccatg	11	8	0	2	rs373487103		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:113215006G>A	ENST00000529221.1	+	13	1103	c.998G>A	c.(997-999)cGt>cAt	p.R333H	TTC12_ENST00000483239.2_Missense_Mutation_p.R339H|TTC12_ENST00000393020.1_Missense_Mutation_p.R333H|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.R333H	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	333										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAAACCAGCGTGTGCTAGTG	0.532																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(997-999)cGt>cAt		tetratricopeptide repeat domain 12		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	143	115	124		998	3.5	1	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	TTC12	NM_017868.3	29	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	333/706	113215006	2,12992	2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113215006G>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.998G>A	11.37:g.113215006G>A	ENSP00000433757:p.Arg333His					TTC12_ENST00000314756.3_Missense_Mutation_p.R333H|TTC12_ENST00000529221.1_Missense_Mutation_p.R333H|TTC12_ENST00000483239.2_Missense_Mutation_p.R339H|TTC12_ENST00000478125.1_3'UTR	p.R333H			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	13	1403	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	333					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.998G>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240578	0.39598	2.27E-4	1.16E-4	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.41	3.55	0.40652	Armadillo-like helical (1);Armadillo-type fold (1);	1.159190	0.06105	N	0.666071	T	0.46092	0.1375	M	0.62723	1.935	0.42406	D	0.992585	B;B	0.28605	0.217;0.217	B;B	0.19148	0.024;0.024	T	0.38802	-0.9644	10	0.51188	T	0.08	-14.8881	9.0705	0.36488	0.1709:0.0:0.8291:0.0	.	333;333	A8K8G6;Q9H892	.;TTC12_HUMAN	H	333;333;333;339	ENSP00000433757:R333H;ENSP00000315160:R333H;ENSP00000376743:R333H;ENSP00000419652:R339H	ENSP00000315160:R333H	R	+	2	0	TTC12	112720216	0.980000	0.34600	0.996000	0.52242	0.844000	0.47949	1.217000	0.32455	1.285000	0.44548	-0.126000	0.14955	CGT		0.532	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		69	113	0	0	0	1	0	69	113					A	113215006	G	A	113215006	3	1	350	1	0	0	0	0	1	0	0	0	16676	1145	40	1	1044	1	TTC12	11	113215006	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1379643	113215006	21791510	40	33348											
GLB1L2	89944	broad.mit.edu	37	chr11	134228963	134228988	+	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	GACCGTGGCATTGTGGAACTGCTCCT	-													ttcccccacaggcactggagGaccgtggcattgtggaactg					rs200721051		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT	ENST00000535456.2	+	7	849_874	c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	c.(661-687)gaccgtggcattgtggaactgctcctgfs	p.DRGIVELLL221fs	GLB1L2_ENST00000339772.7_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000389881.3_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	221					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.L228I(1)|p.V225L(1)|p.R222H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCACTGGAGGACCGTGGCATTGTGGAACTGCTCCTGACTTCAGAC	0.606																																						ENST00000535456.2																			3	Substitution - Missense(3)	p.L228I(1)|p.V225L(1)|p.R222H(1)	large_intestine(2)|prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(661-687)gfs		galactosidase, beta 1-like 2																																				SO:0001589	frameshift_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	11.37:g.134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT	ENSP00000444628:p.Asp221fs					GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000389881.3_Frame_Shift_Del_p.DRGIVELLL221fs	p.DRGIVELLL221fs	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	7	849_874	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	221					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Frame_Shift_Del	DEL	ENST00000535456.2	37	c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	CCDS31724.1																																																																																				0.606	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		16	204						16	204	---	---	---	---	-	134228988	GACCGTGGCATTGTGGAACTGCTCCT	-	134228963	7	5	350	1	0	1	0	1	0	0	0	0	6429	1174	41	0	687	0	GLB1L2	11	134228963	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	TCGA-IK-8125-01A-11D-2253-08	21013957	134228963	777553	41	33349											
MAP3K12	7786	broad.mit.edu	37	chr12	53877509	53877509	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgtccagggcgtgtcTgcaacgggcagaaaggttcc	14	11	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:53877509T>A	ENST00000267079.2	-	10	1485		c.e10-2		MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGGCGTGTCTGCAACGGGCA	0.507																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.e10-2		mitogen-activated protein kinase kinase kinase 12							105	92	97					12																	53877509		2203	4300	6503	SO:0001630	splice_region_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877509T>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1260-2A>T	12.37:g.53877509T>A						MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site		NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			10	1485	-								B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Splice_Site	SNP	ENST00000267079.2	37		CCDS8860.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658558	0.67586	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	.	.	.	5.12	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0221	0.42048	0.0:0.0806:0.0:0.9194	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K12	52163776	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	7.843000	0.86859	1.096000	0.41439	0.533000	0.62120	.		0.507	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	Intron	8	50	0	0	0	1	0	8	50					A	53877509	T	A	53877509	5	1	350	1	0	0	0	0	0	0	1	0	9246	1594	55	5	1345	5	MAP3K12	12	53877509	Splice_Site	SNP	T	TCGA-IK-8125-01A-11D-2253-08		53877509	79974386	42	33350											
SMUG1	23583	broad.mit.edu	37	chr12	54577582	54577582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgatgcccacaggctccGaaaactgcagctggctcagc	11	13	1	2	rs149806805		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:54577582G>A	ENST00000508394.2	-	2	205	c.143C>T	c.(142-144)tCg>tTg	p.S48L	SMUG1_ENST00000505128.1_Missense_Mutation_p.S48L|SMUG1_ENST00000401977.2_Missense_Mutation_p.S48L|SMUG1_ENST00000514685.1_Missense_Mutation_p.S48L|SMUG1_ENST00000243112.5_Missense_Mutation_p.S48L|SMUG1_ENST00000506595.1_Missense_Mutation_p.S48L|SMUG1_ENST00000513838.1_Missense_Mutation_p.S48L|SMUG1_ENST00000337581.3_Missense_Mutation_p.S48L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514196.1_Missense_Mutation_p.S48L	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	48				S -> L (in Ref. 3; BAC03670). {ECO:0000305}.	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						CACAGGCTCCGAAAACTGCAG	0.597								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		19629	0.0		0.001	False		,,,				2504	0.0					ENST00000505128.1																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(142-144)tCg>tTg	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1		G	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	69	61	64		143	3	0.1	12	dbSNP_134	64	9,8591	6.4+/-24.3	0,9,4291	yes	missense	SMUG1	NM_014311.2	145	0,13,6490	AA,AG,GG		0.1047,0.0908,0.1	benign	48/271	54577582	13,12993	2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54577582G>A	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.143C>T	12.37:g.54577582G>A	ENSP00000424191:p.Ser48Leu					SMUG1_ENST00000514685.1_Missense_Mutation_p.S48L|SMUG1_ENST00000514196.1_Missense_Mutation_p.S48L|SMUG1_ENST00000513838.1_Missense_Mutation_p.S48L|SMUG1_ENST00000401977.2_Missense_Mutation_p.S48L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000506595.1_Missense_Mutation_p.S48L|SMUG1_ENST00000243112.5_Missense_Mutation_p.S48L|SMUG1_ENST00000508394.2_Missense_Mutation_p.S48L|SMUG1_ENST00000337581.3_Missense_Mutation_p.S48L	p.S48L			Q53HV7	SMUG1_HUMAN			3	265	-			48	S -> L (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.143C>T	CCDS8874.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.925	1.213169	0.22289	9.08E-4	0.001047	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	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.85	3.03	0.35002	Uracil-DNA glycosylase-like (2);	0.496492	0.22912	N	0.054127	T	0.44201	0.1282	M	0.76574	2.34	0.09310	N	1	P;D;B	0.60160	0.585;0.987;0.116	B;P;B	0.47891	0.078;0.56;0.017	T	0.34354	-0.9832	10	0.37606	T	0.19	.	5.7828	0.18316	0.1658:0.0:0.6794:0.1549	.	48;48;48	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	L	48	ENSP00000421206:S48L;ENSP00000421139:S48L;ENSP00000421894:S48L;ENSP00000338606:S48L;ENSP00000424191:S48L;ENSP00000423629:S48L;ENSP00000243112:S48L;ENSP00000384828:S48L;ENSP00000425974:S48L;ENSP00000423083:S48L;ENSP00000423457:S48L;ENSP00000421790:S48L;ENSP00000427547:S48L;ENSP00000425426:S48L	ENSP00000243112:S48L	S	-	2	0	SMUG1	52863849	0.988000	0.35896	0.056000	0.19401	0.566000	0.35808	2.715000	0.47210	0.765000	0.33221	-0.229000	0.12294	TCG		0.597	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		4	43	0	0	0	1	0	4	43					A	54577582	G	A	54577582	3	1	350	1	0	0	0	0	1	0	0	0	14818	1059	37	1	677	1	SMUG1	12	54577582	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	700073	54577582	79274313	43	33351											
TBX5	6910	broad.mit.edu	37	chr12	114793348	114793348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcactttagctattgtCgctccactctggcaccatgc	8	15	2	0	rs200354838		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:114793348C>T	ENST00000310346.4	-	9	2212	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	TBX5_ENST00000349716.5_Missense_Mutation_p.D466N|TBX5_ENST00000405440.2_Missense_Mutation_p.D516N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	516				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TAGCTATTGTCGCTCCACTCT	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21402	0.0		0.0	False		,,,				2504	0.0				NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1546-1548)Gac>Aac		T-box 5							43	42	42					12																	114793348		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793348C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1546G>A	12.37:g.114793348C>T	ENSP00000309913:p.Asp516Asn					TBX5_ENST00000349716.5_Missense_Mutation_p.D466N|TBX5_ENST00000405440.2_Missense_Mutation_p.D516N	p.D516N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	2212	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		516	PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1546G>A	CCDS9173.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.92	2.974859	0.53720	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.88975	-2.4;-2.45;-2.45	5.42	4.51	0.55191	.	0.589818	0.18864	N	0.129055	D	0.82342	0.5016	N	0.24115	0.695	0.80722	D	1	B	0.25105	0.118	B	0.14023	0.01	T	0.79022	-0.1973	10	0.72032	D	0.01	.	15.2177	0.73281	0.1418:0.8582:0.0:0.0	.	516	Q99593	TBX5_HUMAN	N	466;516;516	ENSP00000337723:D466N;ENSP00000309913:D516N;ENSP00000384152:D516N	ENSP00000309913:D516N	D	-	1	0	TBX5	113277731	1.000000	0.71417	0.220000	0.23810	0.623000	0.37688	7.487000	0.81328	1.230000	0.43646	0.655000	0.94253	GAC		0.517	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	45	0	0	0	1	0	7	45					T	114793348	C	T	114793348	3	4	350	1	0	0	0	0	1	0	0	0	15658	884	31	1	14	1	TBX5	12	114793348	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	60215766	114793348	19058547	44	33352											
TRPM1	4308	broad.mit.edu	37	chr15	31359319	31359319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccccatggagcaattcCtatagcacaaacccggcctc	8	15	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:31359319C>T	ENST00000256552.6	-	6	712	c.565G>A	c.(565-567)Gga>Aga	p.G189R	TRPM1_ENST00000542188.1_Missense_Mutation_p.G206R|TRPM1_ENST00000397795.2_Missense_Mutation_p.G167R|MIR211_ENST00000384969.1_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)		GGAGCAATTCCTATAGCACAA	0.453																																						ENST00000542188.1																			0				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						c.(616-618)Gga>Aga		transient receptor potential cation channel, subfamily M, member 1							114	112	113					15																	31359319		1889	4114	6003	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31359319C>T	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.565G>A	15.37:g.31359319C>T	ENSP00000256552:p.Gly189Arg					TRPM1_ENST00000397795.2_Missense_Mutation_p.G167R|TRPM1_ENST00000256552.6_Missense_Mutation_p.G189R	p.G206R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	5	929	-		all_lung(180;1.92e-11)	167						Missense_Mutation	SNP	ENST00000256552.6	37	c.616G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507972	0.96386	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.18016	2.24;2.24;2.24	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.65726	-0.6098	10	0.87932	D	0	-29.4806	20.7342	0.99715	0.0:1.0:0.0:0.0	.	167;167	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	167;206;189;167	ENSP00000380897:G167R;ENSP00000437849:G206R;ENSP00000256552:G189R	ENSP00000256552:G189R	G	-	1	0	TRPM1	29146611	1.000000	0.71417	0.910000	0.35882	0.997000	0.91878	7.795000	0.85887	2.906000	0.99361	0.655000	0.94253	GGA		0.453	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		44	57	0	0	0	1	0	44	57					T	31359319	C	T	31359319	3	4	350	1	0	0	0	0	1	0	0	0	16582	690	24	2	4404	2	TRPM1	15	31359319	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		31359319	71172073	45	33353											
SPPL2A	84888	broad.mit.edu	37	chr15	51017471	51017471	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggcatgaggcacacaCtcattactgagaaatagatc	8	9	1	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:51017471C>G	ENST00000261854.5	-	12	1470	c.1196G>C	c.(1195-1197)aGt>aCt	p.S399T	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	399					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GAGGCACACACTCATTACTGA	0.313																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1195-1197)aGt>aCt		signal peptide peptidase like 2A							109	107	108					15																	51017471		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51017471C>G		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1196G>C	15.37:g.51017471C>G	ENSP00000261854:p.Ser399Thr					SPPL2A_ENST00000559293.1_5'UTR	p.S399T	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	12	1470	-			399					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.1196G>C	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276493	0.10403	.	.	ENSG00000138600	ENST00000261854	T	0.12039	2.72	5.43	3.42	0.39159	.	0.202695	0.49305	D	0.000142	T	0.05227	0.0139	N	0.04116	-0.275	0.28057	N	0.933145	B	0.21688	0.059	B	0.19666	0.026	T	0.38067	-0.9678	10	0.10111	T	0.7	-6.0168	8.5216	0.33279	0.0:0.5767:0.3331:0.0903	.	399	Q8TCT8	PSL2_HUMAN	T	399	ENSP00000261854:S399T	ENSP00000261854:S399T	S	-	2	0	AC012100.1	48804763	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	1.334000	0.33827	1.279000	0.44446	0.557000	0.71058	AGT		0.313	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		36	79	0	0	0	1	0	36	79					G	51017471	C	G	51017471	3	3	350	1	0	0	0	0	1	0	0	0	15087	565	20	4	382	4	SPPL2A	15	51017471	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	19658152	51017471	51513921	46	33354											
UNC13C	440279	broad.mit.edu	37	chr15	54825250	54825250	+	Frame_Shift_Del	DEL	T	T	-													gtgttaagatctcttatggaTtttttggacaaaacgtaagt							TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:54825250delT	ENST00000260323.11	+	25	5682	c.5682delT	c.(5680-5682)gatfs	p.D1894fs	UNC13C_ENST00000545554.1_Frame_Shift_Del_p.D1894fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.D1892fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1894	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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)		CTCTTATGGATTTTTTGGACA	0.343																																						ENST00000545554.1																			0				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						c.(5680-5682)gafs		unc-13 homolog C (C. elegans)							73	74	74					15																	54825250		1811	4074	5885	SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825250delT	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.5682delT	15.37:g.54825250delT	ENSP00000260323:p.Asp1894fs					UNC13C_ENST00000537900.1_Frame_Shift_Del_p.D1892fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.D1894fs	p.D1894fs			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	25	5682	+			1894			MHD2.		Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	c.5682delT	CCDS45264.1																																																																																				0.343	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		2	4						2	4	---	---	---	---	-	54825250	T	-	54825250	7	5	350	1	0	1	0	1	0	0	0	0	16983	1490	52	0	5776	0	UNC13C	15	54825250	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08	3807779	54825250	47706142	47	33355											
TPM1	7168	broad.mit.edu	37	chr15	63336271	63336271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagaaactcaagggcaccGaagatgaactggacaaatac	9	8	1	3	rs104894505		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:63336271G>A	ENST00000403994.3	+	2	240	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000358278.3_Missense_Mutation_p.E54K|TPM1_ENST00000559556.1_Missense_Mutation_p.E54K|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000560445.1_Missense_Mutation_p.E54K|TPM1_ENST00000288398.6_Missense_Mutation_p.E54K|TPM1_ENST00000357980.4_Missense_Mutation_p.E96K	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	54			E -> K (in CMD1Y). {ECO:0000269|PubMed:11273725}.		cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CAAGGGCACCGAAGATGAACT	0.562																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4	GRCh37	CM014116	TPM1	M	rs104894505	c.(286-288)Gaa>Aaa		tropomyosin 1 (alpha)							60	57	58					15																	63336271		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63336271G>A	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"Tropomyosins"	12010	protein-coding gene	gene with protein product		191010	"chromosome 15 open reading frame 13", "cardiomyopathy, hypertrophic 3"	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.160G>A	15.37:g.63336271G>A	ENSP00000385107:p.Glu54Lys					TPM1_ENST00000358278.3_Missense_Mutation_p.E54K|TPM1_ENST00000559556.1_Missense_Mutation_p.E54K|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000288398.6_Missense_Mutation_p.E54K|TPM1_ENST00000403994.3_Missense_Mutation_p.E54K|TPM1_ENST00000560445.1_Missense_Mutation_p.E54K	p.E96K			P09493	TPM1_HUMAN			3	365	+			54					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000403994.3	37	c.286G>A	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145333	0.77888	.	.	ENSG00000140416	ENST00000288398;ENST00000358278;ENST00000403994;ENST00000357980	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.82	5.82	0.92795	.	0.000000	0.52532	D	0.000072	D	0.86648	0.5983	L	0.53617	1.68	0.80722	D	1	P;P;P;B;B;P	0.52061	0.923;0.95;0.866;0.272;0.393;0.923	P;P;P;P;P;P	0.58970	0.849;0.609;0.752;0.693;0.483;0.849	D	0.86654	0.1900	10	0.62326	D	0.03	-16.2738	19.0927	0.93233	0.0:0.0:1.0:0.0	.	54;96;54;54;54;54	D9YZV4;Q6ZN40;D9YZV5;D9YZV3;D9YZV2;P09493	.;.;.;.;.;TPM1_HUMAN	K	54;54;54;96	ENSP00000288398:E54K;ENSP00000351022:E54K;ENSP00000385107:E54K;ENSP00000350667:E96K	ENSP00000288398:E54K	E	+	1	0	TPM1	61123324	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.435000	0.97529	2.759000	0.94783	0.561000	0.74099	GAA		0.562	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		9	24	0	0	0	1	0	9	24					A	63336271	G	A	63336271	3	1	350	1	0	0	0	0	1	0	0	0	16402	1059	37	1	296	1	TPM1	15	63336271	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	8511021	63336271	39195121	48	33356											
NEO1	4756	broad.mit.edu	37	chr15	73428355	73428355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaattgaagctcaagcagaGcttacagtgcaaggtatgta	10	7	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:73428355G>C	ENST00000339362.5	+	6	1449	c.1002G>C	c.(1000-1002)gaG>gaC	p.E334D	NEO1_ENST00000261908.6_Missense_Mutation_p.E334D|NEO1_ENST00000558964.1_Missense_Mutation_p.E334D|NEO1_ENST00000560262.1_Missense_Mutation_p.E334D			Q92859	NEO1_HUMAN	neogenin 1	334	Ig-like C2-type 3.				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						CTCAAGCAGAGCTTACAGTGC	0.373																																						ENST00000339362.5																			0				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						c.(1000-1002)gaG>gaC		neogenin 1							113	110	111					15																	73428355		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73428355G>C	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.1002G>C	15.37:g.73428355G>C	ENSP00000341198:p.Glu334Asp					NEO1_ENST00000560262.1_Missense_Mutation_p.E334D|NEO1_ENST00000261908.6_Missense_Mutation_p.E334D|NEO1_ENST00000558964.1_Missense_Mutation_p.E334D	p.E334D			Q92859	NEO1_HUMAN			6	1449	+			334			Ig-like C2-type 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1002G>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467306	0.26335	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.69435	-0.4;-0.4	6.04	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220802	0.46442	D	0.000295	T	0.42585	0.1209	N	0.20530	0.585	0.40268	D	0.978255	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.21861	-1.0233	10	0.18276	T	0.48	-20.4676	4.7015	0.12828	0.2379:0.2583:0.5038:0.0	.	334;334;334	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	D	334;52;334	ENSP00000341198:E334D;ENSP00000261908:E334D	ENSP00000261908:E334D	E	+	3	2	NEO1	71215408	0.995000	0.38212	0.995000	0.50966	0.446000	0.32137	0.194000	0.17135	1.568000	0.49683	0.561000	0.74099	GAG		0.373	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		11	23	0	0	0	1	0	11	23					C	73428355	G	C	73428355	3	2	350	1	0	0	0	0	1	0	0	0	10336	962	34	4	1020	4	NEO1	15	73428355	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	10092084	73428355	29103037	49	33357											
SPATA22	84690	broad.mit.edu	37	chr17	3366004	3366004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatttctccacatacccgGtgtccactgttttcattaca	4	12	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr17:3366004G>A	ENST00000573128.1	-	4	713	c.230C>T	c.(229-231)aCc>aTc	p.T77I	SPATA22_ENST00000541913.1_Missense_Mutation_p.T61I|SPATA22_ENST00000575375.1_Missense_Mutation_p.T77I|SPATA22_ENST00000572969.1_Missense_Mutation_p.T77I|SPATA22_ENST00000268981.5_Missense_Mutation_p.T77I|SPATA22_ENST00000397168.3_Missense_Mutation_p.T77I|SPATA22_ENST00000355380.4_Missense_Mutation_p.T34I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	77					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CACATACCCGGTGTCCACTGT	0.363																																						ENST00000573128.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						c.(229-231)aCc>aTc		spermatogenesis associated 22							125	130	129					17																	3366004		2203	4300	6503	SO:0001583	missense	84690							g.chr17:3366004G>A	AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.230C>T	17.37:g.3366004G>A	ENSP00000459580:p.Thr77Ile					SPATA22_ENST00000397168.3_Missense_Mutation_p.T77I|SPATA22_ENST00000572969.1_Missense_Mutation_p.T77I|SPATA22_ENST00000268981.5_Missense_Mutation_p.T77I|SPATA22_ENST00000575375.1_Missense_Mutation_p.T77I|SPATA22_ENST00000541913.1_Missense_Mutation_p.T61I|SPATA22_ENST00000355380.4_Missense_Mutation_p.T34I	p.T77I			Q8NHS9	SPT22_HUMAN			4	713	-			77					B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	c.230C>T	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.311823	0.40895	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.19532	2.14;2.16;2.17;2.16	5.01	4.04	0.47022	.	0.302904	0.26366	N	0.024787	T	0.25195	0.0612	L	0.32530	0.975	0.22112	N	0.999352	B;D;B;B	0.57257	0.037;0.979;0.037;0.037	B;P;B;B	0.56563	0.018;0.801;0.018;0.018	T	0.03840	-1.0999	10	0.62326	D	0.03	.	7.1091	0.25380	0.09:0.0:0.7402:0.1698	.	61;77;34;77	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	I	34;77;77;61	ENSP00000347541:T34I;ENSP00000380354:T77I;ENSP00000268981:T77I;ENSP00000441920:T61I	ENSP00000268981:T77I	T	-	2	0	SPATA22	3312754	0.993000	0.37304	0.730000	0.30809	0.363000	0.29612	0.930000	0.28858	1.434000	0.47414	0.655000	0.94253	ACC		0.363	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598		5	113	0	0	0	1	0	5	113					A	3366004	G	A	3366004	3	1	350	1	0	0	0	0	1	0	0	0	15007	1261	44	2	885	2	SPATA22	17	3366004	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		3366004	77829206	50	33358											
SMAD2	4087	broad.mit.edu	37	chr18	45422914	45422914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtatggtaacacatttagTattacagttttgagtggtga	11	3	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr18:45422914T>C	ENST00000402690.2	-	2	608	c.214A>G	c.(214-216)Act>Gct	p.T72A	SMAD2_ENST00000262160.6_Missense_Mutation_p.T72A|SMAD2_ENST00000356825.4_Missense_Mutation_p.T72A|SMAD2_ENST00000586040.1_Missense_Mutation_p.T72A|SMAD2_ENST00000591214.1_Missense_Mutation_p.T72A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	72	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|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)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACACATTTAGTATTACAGTTT	0.368																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(214-216)Act>Gct		SMAD family member 2							227	210	216					18																	45422914		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45422914T>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"SMADs"	6768	protein-coding gene	gene with protein product		601366	"MAD, mothers against decapentaplegic homolog 2 (Drosophila)", "SMAD, mothers against DPP homolog 2 (Drosophila)"	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.214A>G	18.37:g.45422914T>C	ENSP00000384449:p.Thr72Ala					SMAD2_ENST00000591214.1_Missense_Mutation_p.T72A|SMAD2_ENST00000262160.6_Missense_Mutation_p.T72A|SMAD2_ENST00000586040.1_Missense_Mutation_p.T72A|SMAD2_ENST00000356825.4_Missense_Mutation_p.T72A	p.T72A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			2	608	-			72			MH1.			Missense_Mutation	SNP	ENST00000402690.2	37	c.214A>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173458	0.78452	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.76578	-1.03;-1.03;-1.03	5.36	4.18	0.49190	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.79475	2.455	0.58432	D	0.999999	P;P;D	0.76494	0.868;0.906;0.999	P;P;D	0.79108	0.803;0.702;0.992	D	0.87919	0.2702	10	0.87932	D	0	.	12.7762	0.57451	0.0:0.0:0.137:0.863	.	72;72;72	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	A	72	ENSP00000262160:T72A;ENSP00000349282:T72A;ENSP00000384449:T72A	ENSP00000262160:T72A	T	-	1	0	SMAD2	43676912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	0.959000	0.37980	0.454000	0.30748	ACT		0.368	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		6	70	0	0	0	1	0	6	70					C	45422914	T	C	45422914	3	2	350	1	0	0	0	0	1	0	0	0	14758	1638	57	3	1229	3	SMAD2	18	45422914	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08		45422914	32654334	51	33359											
DAPK3	1613	broad.mit.edu	37	chr19	3964722	3964722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctcgtcctccgtcagCgactccttctccgccaggaa	10	17	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:3964722C>T	ENST00000545797.2	-	3	573	c.330G>A	c.(328-330)tcG>tcA	p.S110S	DAPK3_ENST00000301264.3_Silent_p.S110S			O43293	DAPK3_HUMAN	death-associated protein kinase 3	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CCTCCGTCAGCGACTCCTTCT	0.592																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(328-330)tcG>tcA		death-associated protein kinase 3							110	108	108					19																	3964722		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964722C>T	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.330G>A	19.37:g.3964722C>T						DAPK3_ENST00000301264.3_Silent_p.S110S	p.S110S			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	573	-		Hepatocellular(1079;0.137)	110			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.330G>A	CCDS12116.1																																																																																				0.592	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		17	110	0	0	0	1	0	17	110					T	3964722	C	T	3964722	2	4	350	1	0	0	0	0	0	0	0	1	4237	755	27	1		1	DAPK3	19	3964722	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3964722	55164261	52	33360											
C3	718	broad.mit.edu	37	chr19	6718386	6718386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggtcacgaacttgttgCgccccttttctgacttgaac	9	13	2	2	rs554587967		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:6718386C>T	ENST00000245907.6	-	3	397	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	102			R -> G (in allele C3F; associated with susceptibility to ARMD9; results in decreased binding affinity for regulator factor H; results in reduced sensitivity to cleavage by factor I; dbSNP:rs2230199). {ECO:0000269|PubMed:1976733, ECO:0000269|Ref.2}.		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)	GAACTTGTTGCGCCCCTTTTC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15048	0.0		0.0	False		,,,				2504	0.0					ENST00000245907.6																			0				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						c.(304-306)cGc>cAc		complement component 3							130	112	118					19																	6718386		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718386C>T	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.305G>A	19.37:g.6718386C>T	ENSP00000245907:p.Arg102His						p.R102H	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	397	-			102		R -> G (in allele C3F; associated with ARMD9; dbSNP:rs2230199).			A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.305G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	2.367	-0.345186	0.05208	.	.	ENSG00000125730	ENST00000245907	T	0.32988	1.43	0.189	-0.378	0.12497	.	4.761290	0.00397	N	0.000045	T	0.09949	0.0244	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14559	-1.0468	9	0.46703	T	0.11	.	.	.	.	.	102	P01024	CO3_HUMAN	H	102	ENSP00000245907:R102H	ENSP00000245907:R102H	R	-	2	0	C3	6669386	0.016000	0.18221	0.000000	0.03702	0.040000	0.13550	0.878000	0.28126	-0.843000	0.04189	-0.849000	0.03036	CGC		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		9	122	0	0	0	1	0	9	122					T	6718386	C	T	6718386	3	4	350	1	0	0	0	0	1	0	0	0	2204	768	27	1	4842	1	C3	19	6718386	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2753664	6718386	52410597	53	33361											
ZNF878	729747	broad.mit.edu	37	chr19	12154973	12154973	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcctgtgtgagttcGtatgtgcttttgaaggactg	11	7	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:12154973G>A	ENST00000547628.1	-	4	1380	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	ZNF878_ENST00000602107.1_Nonsense_Mutation_p.R462*|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	415					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)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGTGAGTTCGTATGTGCTTT	0.433																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1384-1386)Cga>Tga		zinc finger protein 878							73	76	75					19																	12154973		2202	4300	6502	SO:0001587	stop_gained	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154973G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1243C>T	19.37:g.12154973G>A	ENSP00000447931:p.Arg415*					ZNF878_ENST00000547628.1_Nonsense_Mutation_p.R415*|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.R462*			C9JN71	ZN878_HUMAN			5	1383	-			415						Nonsense_Mutation	SNP	ENST00000547628.1	37	c.1384C>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891095	0.91889	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	.	.	.	1.3	-0.0775	0.13718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.7589	0.05300	0.0:0.3527:0.2838:0.3635	.	.	.	.	X	415;462	.	ENSP00000447931:R415X	R	-	1	2	AC022415.4;ZNF878	12015973	0.000000	0.05858	0.001000	0.08648	0.836000	0.47400	-2.681000	0.00837	-0.261000	0.09405	-0.823000	0.03104	CGA		0.433	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		11	29	0	0	0	1	0	11	29					A	12154973	G	A	12154973	4	1	350	1	0	0	0	0	0	1	0	0	18193	1153	40	1	356	1	ZNF878	19	12154973	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	5436587	12154973	46974010	54	33362											
NOTCH3	4854	broad.mit.edu	37	chr19	15299837	15299837	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaactggcctatgcggtcGaggcacgtggcctggtttcg	16	10	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:15299837G>A	ENST00000263388.2	-	8	1416	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	447	EGF-like 11; 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)			CTATGCGGTCGAGGCACGTGG	0.667																																						ENST00000263388.2																			0				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						c.(1339-1341)ctC>ctT		notch 3							31	26	28					19																	15299837		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15299837G>A	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.1341C>T	19.37:g.15299837G>A							p.L447L	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		8	1416	-			447			EGF-like 11; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.1341C>T	CCDS12326.1																																																																																				0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	31	0	0	0	1	0	7	31					A	15299837	G	A	15299837	2	1	350	1	0	0	0	0	0	0	0	1	10550	1045	37	1		1	NOTCH3	19	15299837	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	3144864	15299837	43829146	55	33363											
CIC	23152	broad.mit.edu	37	chr19	42797750	42797750	+	Frame_Shift_Del	DEL	A	A	-													catctccaccccaggccagcAaattccccagctcatcttca							TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:42797750delA	ENST00000575354.2	+	16	3842	c.3802delA	c.(3802-3804)aaafs	p.K1268fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K1266fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.K2175fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1268	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)				CCAGGCCAGCAAATTCCCCAG	0.637			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(6523-6525)aafs		capicua transcriptional repressor							28	32	31					19																	42797750		2202	4299	6501	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797750delA	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.3802delA	19.37:g.42797750delA	ENSP00000458663:p.Lys1268fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.K1266fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K1268fs	p.K2175fs			Q96RK0	CIC_HUMAN			17	6591	+		Prostate(69;0.00682)	1268					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6523delA	CCDS12601.1																																																																																				0.637	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			25	21						25	21	---	---	---	---	-	42797750	A	-	42797750	7	5	350	1	0	1	0	1	0	0	0	0	3424	131	5	0	3864	0	CIC	19	42797750	Frame_Shift_Del	DEL	A	TCGA-IK-8125-01A-11D-2253-08	27497913	42797750	16331233	56	33364											
ZNF223	7766	broad.mit.edu	37	chr19	44571252	44571252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcataagagactccattgccGaaaaaaaccattcaaatgtg	6	9	2	1	rs562593501		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:44571252G>A	ENST00000434772.3	+	5	1526	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ZNF223_ENST00000591793.1_Missense_Mutation_p.R534Q	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	424					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(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCA	0.413																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1600-1602)cGa>cAa		zinc finger protein 223							104	105	105					19																	44571252		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571252G>A	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1271G>A	19.37:g.44571252G>A	ENSP00000401947:p.Arg424Gln					ZNF223_ENST00000434772.3_Missense_Mutation_p.R424Q	p.R534Q			Q9UK11	ZN223_HUMAN			7	1684	+		Prostate(69;0.0352)	424					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.1601G>A	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	6.972	0.549368	0.13374	.	.	ENSG00000178386	ENST00000434772	T	0.35789	1.29	2.46	1.37	0.22104	Zinc finger, C2H2 (1);	.	.	.	.	T	0.21962	0.0529	N	0.16790	0.44	0.09310	N	1	B	0.18968	0.032	B	0.04013	0.001	T	0.19386	-1.0307	9	0.66056	D	0.02	.	8.4835	0.33057	0.2395:0.0:0.7605:0.0	.	424	Q9UK11	ZN223_HUMAN	Q	424	ENSP00000401947:R424Q	ENSP00000401947:R424Q	R	+	2	0	ZNF223	49263092	0.996000	0.38824	0.000000	0.03702	0.036000	0.12997	3.981000	0.56902	-0.030000	0.13804	-1.786000	0.00637	CGA		0.413	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			3	42	0	0	0	1	0	3	42					A	44571252	G	A	44571252	3	1	350	1	0	0	0	0	1	0	0	0	17774	1058	37	1	1285	1	ZNF223	19	44571252	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1773502	44571252	14557731	57	33365											
TEAD2	8463	broad.mit.edu	37	chr19	49845721	49845721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtgaagttttccaggaCgctgttcatcatgtatcgct	11	8	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:49845721C>T	ENST00000311227.2	-	11	1294	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I	TEAD2_ENST00000593945.1_Missense_Mutation_p.V406I|TEAD2_ENST00000598810.1_Missense_Mutation_p.V406I|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000377214.4_Missense_Mutation_p.V405I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V274I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V405I	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	402	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCCAGGACGCTGTTCATC	0.572																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(1213-1215)Gtc>Atc		TEA domain family member 2							72	68	69					19																	49845721		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49845721C>T	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1204G>A	19.37:g.49845721C>T	ENSP00000310701:p.Val402Ile					TEAD2_ENST00000598810.1_Missense_Mutation_p.V406I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V405I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V274I|TEAD2_ENST00000311227.2_Missense_Mutation_p.V402I|TEAD2_ENST00000593945.1_Missense_Mutation_p.V406I	p.V405I			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1575	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	402			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.1213G>A	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981683	0.74474	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.35421	1.31;1.31;1.31	3.9	2.85	0.33270	.	0.111684	0.37219	N	0.002185	T	0.36771	0.0979	M	0.74881	2.28	0.58432	D	0.999996	P;B;B	0.43662	0.814;0.41;0.172	B;B;B	0.38985	0.195;0.287;0.034	T	0.39482	-0.9612	10	0.87932	D	0	-30.8716	9.9379	0.41563	0.0:0.8944:0.0:0.1056	.	274;402;405	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	I	402;405;274	ENSP00000310701:V402I;ENSP00000366419:V405I;ENSP00000437928:V274I	ENSP00000310701:V402I	V	-	1	0	TEAD2	54537533	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	6.021000	0.70832	0.950000	0.37743	-0.192000	0.12808	GTC		0.572	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		26	30	0	0	0	1	0	26	30					T	49845721	C	T	49845721	3	4	350	1	0	0	0	0	1	0	0	0	15736	536	19	1	147	1	TEAD2	19	49845721	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	5274469	49845721	9283262	58	33366											
U2AF2	11338	broad.mit.edu	37	chr19	56175034	56175034	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcttccagggccaGtcactaaagatccgcaggcc	10	14	3	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:56175034G>C	ENST00000308924.4	+	7	706	c.666G>C	c.(664-666)caG>caC	p.Q222H	U2AF2_ENST00000450554.2_Missense_Mutation_p.Q222H|U2AF2_ENST00000590551.1_Missense_Mutation_p.Q58H|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	222	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGGGCCAGTCACTAAAGA	0.567																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(664-666)caG>caC		U2 small nuclear RNA auxiliary factor 2							153	133	140					19																	56175034		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56175034G>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.666G>C	19.37:g.56175034G>C	ENSP00000307863:p.Gln222His					U2AF2_ENST00000590551.1_Missense_Mutation_p.Q58H|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.Q222H|CTD-2537I9.12_ENST00000585940.1_RNA	p.Q222H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	7	1625	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	222			RRM 1.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.666G>C	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810831	0.70797	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.07908	3.15;3.15	4.0	1.85	0.25348	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.15739	0.0379	L	0.42008	1.315	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	T	0.11155	-1.0599	10	0.14656	T	0.56	-31.4239	10.0282	0.42085	0.1836:0.0:0.8164:0.0	.	222;222	P26368;P26368-2	U2AF2_HUMAN;.	H	222	ENSP00000307863:Q222H;ENSP00000388475:Q222H	ENSP00000307863:Q222H	Q	+	3	2	U2AF2	60866846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.053000	0.57427	1.025000	0.39708	0.655000	0.94253	CAG		0.567	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		10	95	0	0	0	1	0	10	95					C	56175034	G	C	56175034	3	2	350	1	0	0	0	0	1	0	0	0	16820	1020	36	4	692	4	U2AF2	19	56175034	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	6329313	56175034	2953949	59	33367											
C20orf185	359710	broad.mit.edu	37	chr20	31659936	31659936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttagaagaatggctcagCcatgtggtcggggcagtgta	15	7	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr20:31659936C>T	ENST00000375494.3	+	13	1287	c.1287C>T	c.(1285-1287)agC>agT	p.S429S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	429					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AATGGCTCAGCCATGTGGTCG	0.532																																						ENST00000375494.3																			0											c.(1285-1287)agC>agT		BPI fold containing family B, member 3							193	134	154					20																	31659936		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31659936C>T	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.1287C>T	20.37:g.31659936C>T							p.S429S	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			13	1287	+			429					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.1287C>T	CCDS13212.1																																																																																				0.532	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		10	66	0	0	0	1	0	10	66					T	31659936	C	T	31659936	2	4	350	1	0	0	0	0	0	0	0	1	2097	738	26	2		2	C20orf185	20	31659936	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08		31659936	31365584	60	33368											
COL18A1	80781	broad.mit.edu	37	chr21	46909433	46909433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgggctgccgggggcgAaggtaagcgctgtgcccggg	20	11	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr21:46909433A>G	ENST00000359759.4	+	18	3223	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	COL18A1_ENST00000400337.2_Missense_Mutation_p.K653E|COL18A1_ENST00000355480.5_Missense_Mutation_p.K833E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1068	Triple-helical region 4 (COL4).				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)		GCCGGGGGCGAAGGTAAGCGC	0.706																																						ENST00000359759.4																			0				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						c.(3202-3204)Aag>Gag		collagen, type XVIII, alpha 1							13	17	15					21																	46909433		1983	4130	6113	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46909433A>G		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.3202A>G	21.37:g.46909433A>G	ENSP00000352798:p.Lys1068Glu					COL18A1_ENST00000400337.2_Missense_Mutation_p.K653E|COL18A1_ENST00000355480.5_Missense_Mutation_p.K833E	p.K1068E			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	18	3223	+			1068			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3202A>G		.	.	.	.	.	.	.	.	.	.	A	15.71	2.914208	0.52546	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.96522	-4.04;-4.04;-4.04	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000001	D	0.96402	0.8826	L	0.54908	1.71	0.44946	D	0.997963	D;D;D	0.69078	0.997;0.996;0.996	D;D;D	0.79108	0.992;0.986;0.986	D	0.94154	0.7408	10	0.20046	T	0.44	.	9.0481	0.36358	1.0:0.0:0.0:0.0	.	1068;833;653	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	E	653;653;833;1068;1068	ENSP00000383191:K653E;ENSP00000347665:K833E;ENSP00000352798:K1068E	ENSP00000347665:K833E	K	+	1	0	COL18A1	45733861	0.757000	0.28394	0.695000	0.30226	0.061000	0.15899	1.204000	0.32296	1.710000	0.51325	0.528000	0.53228	AAG		0.706	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			10	10	0	0	0	1	0	10	10					G	46909433	A	G	46909433	3	3	350	1	0	0	0	0	1	0	0	0	3675	247	9	3	3386	3	COL18A1	21	46909433	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		46909433	1220462	61	33369											
PARVB	29780	broad.mit.edu	37	chr22	44489821	44489821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacagtgagtgacctgcaGgaagaaggcaagaatgccat	12	8	1	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr22:44489821G>A	ENST00000338758.7	+	2	189	c.126G>A	c.(124-126)caG>caA	p.Q42Q	PARVB_ENST00000406477.3_Silent_p.Q75Q|PARVB_ENST00000477795.1_3'UTR|PARVB_ENST00000404989.1_Silent_p.Q5Q	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	42					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACCTGCAGGAAGAAGGCA	0.547																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(124-126)caG>caA		parvin, beta							110	109	109					22																	44489821		2203	4300	6503	SO:0001819	synonymous_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44489821G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.126G>A	22.37:g.44489821G>A						PARVB_ENST00000406477.3_Silent_p.Q75Q|PARVB_ENST00000404989.1_Silent_p.Q5Q|PARVB_ENST00000402876.3_Silent_p.Q42Q|PARVB_ENST00000477795.1_3'UTR	p.Q42Q	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			2	189	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	42					B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.126G>A	CCDS14056.1																																																																																				0.547	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		42	84	0	0	0	1	0	42	84					A	44489821	G	A	44489821	2	1	350	1	0	0	0	0	0	0	0	1	11469	991	35	2		2	PARVB	22	44489821	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		44489821	6814745	62	33370											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	110	0	0	0	1	0	4	110					G	37028425	A	G	37028425	3	3	350	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		37028425	118242135	63	33371											
FTSJ1	24140	broad.mit.edu	37	chrX	48339829	48339829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcagatattccgaggccggGatgtgacgctcctctacagc	12	12	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:48339829G>T	ENST00000348411.2	+	8	807	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.D25Y|FTSJ1_ENST00000019019.2_Missense_Mutation_p.D162Y|FTSJ1_ENST00000456787.1_Missense_Mutation_p.D162Y	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGAGGCCGGGATGTGACGCT	0.602																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(484-486)Gat>Tat		FtsJ RNA methyltransferase homolog 1 (E. coli)							71	63	66					X																	48339829		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48339829G>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.484G>T	X.37:g.48339829G>T	ENSP00000326948:p.Asp162Tyr					FTSJ1_ENST00000348411.2_Missense_Mutation_p.D162Y|FTSJ1_ENST00000456787.1_Missense_Mutation_p.D162Y|FTSJ1_ENST00000396894.4_Missense_Mutation_p.D25Y|FTSJ1_ENST00000496365.1_3'UTR	p.D162Y	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			9	913	+			162						Missense_Mutation	SNP	ENST00000348411.2	37	c.484G>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.031709	0.54790	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000396894;ENST00000456787	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.73	2.96	0.34315	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.110377	0.64402	D	0.000014	T	0.55081	0.1898	M	0.85299	2.745	0.46298	D	0.998977	D;D;B;P	0.89917	1.0;1.0;0.337;0.883	D;D;B;P	0.91635	0.999;0.996;0.43;0.566	T	0.56414	-0.7983	10	0.87932	D	0	-9.4554	8.5418	0.33397	0.1946:0.0:0.8054:0.0	.	25;162;162;162	B7Z4K4;Q9UET6;Q9UET6-2;B3KN91	.;RRMJ1_HUMAN;.;.	Y	162;162;25;162	ENSP00000019019:D162Y;ENSP00000326948:D162Y;ENSP00000380103:D25Y;ENSP00000415457:D162Y	ENSP00000019019:D162Y	D	+	1	0	FTSJ1	48224773	1.000000	0.71417	0.996000	0.52242	0.551000	0.35334	8.296000	0.89940	0.548000	0.28955	0.507000	0.49892	GAT		0.602	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			29	8	1	0	3.99451e-17	1	4.15867e-17	29	8					T	48339829	G	T	48339829	3	4	350	1	0	0	0	0	1	0	0	0	6087	1174	41	4	510	4	FTSJ1	23	48339829	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	11311404	48339829	106930731	64	33372											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	9	13	1	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(205-207)Cgc>Tgc		lipoma HMGIC fusion partner-like 1							141	125	130					X																	111914414		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914414G>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.205C>T	X.37:g.111914414G>A	ENSP00000361036:p.Arg69Cys					LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	444	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.205C>T	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861972	0.71949	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73152	-0.72;-0.72	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.83944	0.0313	10	0.49607	T	0.09	-29.645	10.2057	0.43112	0.0:0.0:0.8026:0.1974	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	69	ENSP00000361036:R69C;ENSP00000444573:R69C	ENSP00000361036:R69C	R	-	1	0	LHFPL1	111801070	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.553000	0.53713	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		33	61	0	0	0	1	0	33	61					A	111914414	G	A	111914414	3	1	350	1	0	0	0	0	1	0	0	0	8764	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	63574585	111914414	43356146	65	33373											
NSDHL	50814	broad.mit.edu	37	chrX	152037637	152037637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggaccgtgcagagctttCgccacctgcggagggtcaag	15	11	1	2	rs199567542		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:152037637C>T	ENST00000370274.3	+	8	1293	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	NSDHL_ENST00000440023.1_Missense_Mutation_p.R367C	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	367					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGCTTTCGCCACCTGCG	0.552													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15084	0.0		0.0	False		,,,				2504	0.0					ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(1099-1101)Cgc>Tgc		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						57	45	49					X																	152037637		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037637C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.1099C>T	X.37:g.152037637C>T	ENSP00000359297:p.Arg367Cys					NSDHL_ENST00000440023.1_Missense_Mutation_p.R367C	p.R367C	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1293	+	Acute lymphoblastic leukemia(192;6.56e-05)		367					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.1099C>T	CCDS14717.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.451	1.090666	0.20471	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.89485	-2.52;-2.52	4.3	3.42	0.39159	.	0.424993	0.27076	N	0.021057	T	0.82042	0.4951	L	0.47716	1.5	0.30541	N	0.766452	P	0.47841	0.901	B	0.40329	0.326	T	0.81106	-0.1083	10	0.54805	T	0.06	-21.716	4.92	0.13865	0.0:0.7493:0.0:0.2507	.	367	Q15738	NSDHL_HUMAN	C	367	ENSP00000359297:R367C;ENSP00000391854:R367C	ENSP00000359297:R367C	R	+	1	0	NSDHL	151788293	0.011000	0.17503	0.131000	0.22000	0.349000	0.29174	1.844000	0.39269	2.071000	0.62044	0.544000	0.68410	CGC		0.552	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		7	21	0	0	0	1	0	7	21					T	152037637	C	T	152037637	3	4	350	1	0	0	0	0	1	0	0	0	10670	884	31	1	1125	1	NSDHL	23	152037637	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	40123223	152037637	3232923	66	33374											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	30	0	0	0	1	0	15	30					T	209113112	C	T	209113112	3	4	351	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		209113112	34086261	1	33375											
KBTBD8	84541	broad.mit.edu	37	chr3	67054339	67054339	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaggaagggtgtttaaActatgcaaaccaccaaatga	9	8	1	1			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr3:67054339A>G	ENST00000417314.2	+	3	997	c.948A>G	c.(946-948)aaA>aaG	p.K316K	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.K290K			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	316						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGTGTTTAAACTATGCAAAC	0.433																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(868-870)aaA>aaG		kelch repeat and BTB (POZ) domain containing 8							139	135	136					3																	67054339		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054339A>G	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.948A>G	3.37:g.67054339A>G						KBTBD8_ENST00000417314.2_Silent_p.K316K|KBTBD8_ENST00000460576.1_Intron	p.K290K	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1001	+		Lung NSC(201;0.0765)	316					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.870A>G	CCDS2906.2																																																																																				0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		4	165	0	0	0	1	0	4	165					G	67054339	A	G	67054339	2	3	351	1	0	0	0	0	0	0	0	1	7999	40	2	3		3	KBTBD8	3	67054339	Silent	SNP	A	TCGA-KT-A74X-01A-11D-A32B-08		67054339	130968091	2	33376											
CRIPAK	285464	broad.mit.edu	37	chr4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA													atgtggagtgcctgcctgctINScacacgtgcccatgtggagt					rs530801181	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)tcafs	p.S211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663														130	0.0259585	0.0091	0.0447	5008	,	,		13632	0.003		0.0586	False		,,,				2504	0.0256					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(631-633)acafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388930_1388931insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.634_635dupCA	4.37:g.1388933_1388934dupCA	ENSP00000323978:p.Ser211fs						p.T211fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3591_3592	+			211					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.631_632insCA	CCDS3349.1																																																																																				0.663	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	196						7	196	---	---	---	---	CA	1388931	-	CA	1388930	7	5	351	1	0	1	1	0	0	0	0	0	3877	1551	54	0	633	0	CRIPAK	4	1388930	Frame_Shift_Ins	INS	-	TCGA-KT-A74X-01A-11D-A32B-08		1388930	189765346	3	33377											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-													tttcaagaaaaaagtcgagaAtatgatagattatatgaaga							TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					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.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(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)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		11	Substitution - Missense(4)|Deletion - In frame(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Whole gene deletion(1)|Unknown(1)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)	endometrium(7)|lung(2)|large_intestine(1)|central_nervous_system(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						c.(1384-1398)gaa>ga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589623_67589634delATATGATAGATT	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.1386_1397delATATGATAGATT	5.37:g.67589623_67589634delATATGATAGATT	ENSP00000428056:p.Tyr463_Leu466del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del	p.EYDRL462del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2002_2013	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	462					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1386_1397delATATGATAGATT	CCDS3993.1																																																																																				0.283	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		14	28						14	28	---	---	---	---	-	67589634	ATATGATAGATT	-	67589623	7	5	351	1	0	1	0	1	0	0	0	0	11918	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-KT-A74X-01A-11D-A32B-08		67589623	113325637	4	33378											
HSD17B8	7923	broad.mit.edu	37	chr6	33172796	33172796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggtgcggctgctgggcgGgccagggagcaaggaggggc	23	9	0	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:33172796G>A	ENST00000374662.3	+	2	197	c.170G>A	c.(169-171)gGg>gAg	p.G57E	MIR219-1_ENST00000362166.1_RNA|HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	57					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						CTGCTGGGCGGGCCAGGGAGC	0.721																																						ENST00000374662.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						c.(169-171)gGg>gAg		hydroxysteroid (17-beta) dehydrogenase 8	NADH(DB00157)						5	7	6					6																	33172796		1452	2663	4115	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33172796G>A	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	3554	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 30C, member 1"	601417	"FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.170G>A	6.37:g.33172796G>A	ENSP00000363794:p.Gly57Glu					HSD17B8_ENST00000469186.1_3'UTR	p.G57E	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN			2	197	+			57					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.170G>A	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171654	0.38315	.	.	ENSG00000204228	ENST00000374662	T	0.20463	2.07	4.39	3.51	0.40186	NAD(P)-binding domain (1);	0.324362	0.22595	N	0.058022	T	0.02688	0.0081	N	0.12637	0.245	0.09310	N	1	B	0.22909	0.077	B	0.24974	0.057	T	0.44528	-0.9322	10	0.06494	T	0.89	.	8.4723	0.32993	0.1095:0.0:0.8905:0.0	.	57	Q92506	DHB8_HUMAN	E	57	ENSP00000363794:G57E	ENSP00000363794:G57E	G	+	2	0	HSD17B8	33280774	0.000000	0.05858	0.619000	0.29118	0.853000	0.48598	0.645000	0.24782	1.053000	0.40415	0.448000	0.29417	GGG		0.721	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		3	7	0	0	0	1	0	3	7					A	33172796	G	A	33172796	3	1	351	1	0	0	0	0	1	0	0	0	7389	1232	43	2	176	2	HSD17B8	6	33172796	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		33172796	137942271	5	33379											
SLC26A8	116369	broad.mit.edu	37	chr6	35980123	35980123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaagattgtaagcacgCatcgtaggaacctgtgccat	12	8	0	1			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:35980123C>T	ENST00000490799.1	-	3	568	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y	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						TGTAAGCACGCATCGTAGGAA	0.458																																						ENST00000490799.1																			0				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						c.(214-216)tGc>tAc		solute carrier family 26 (anion exchanger), member 8							158	143	148					6																	35980123		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980123C>T	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.215G>A	6.37:g.35980123C>T	ENSP00000417638:p.Cys72Tyr					SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y	p.C72Y	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			3	568	-			72						Missense_Mutation	SNP	ENST00000490799.1	37	c.215G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228268	0.58777	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	D;D;D;D	0.94650	-3.13;-3.48;-3.13;-2.61	5.81	4.86	0.63082	.	0.408050	0.24094	N	0.041614	D	0.90147	0.6921	L	0.34521	1.04	0.09310	N	0.999994	D;D	0.63880	0.99;0.993	P;P	0.60541	0.731;0.876	T	0.81395	-0.0952	10	0.12103	T	0.63	.	10.4137	0.44309	0.24:0.76:0.0:0.0	.	72;72	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	Y	72;72;72;158	ENSP00000417638:C72Y;ENSP00000378100:C72Y;ENSP00000347778:C72Y;ENSP00000420488:C158Y	ENSP00000347778:C72Y	C	-	2	0	SLC26A8	36088101	0.972000	0.33761	0.667000	0.29798	0.803000	0.45373	2.388000	0.44398	2.747000	0.94245	0.650000	0.86243	TGC		0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			37	59	0	0	0	1	0	37	59					T	35980123	C	T	35980123	3	4	351	1	0	0	0	0	1	0	0	0	14523	710	25	2	2769	2	SLC26A8	6	35980123	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08	2807327	35980123	135134944	6	33380											
GPR111	222611	broad.mit.edu	37	chr6	47647929	47647929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatctgtcttgtgtaatTagaaacattcagcagtctcc	7	9	4	2			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:47647929T>C	ENST00000296862.1	+	5	594	c.594T>C	c.(592-594)atT>atC	p.I198I	GPR111_ENST00000507065.1_Silent_p.I130I|GPR111_ENST00000398742.2_Silent_p.I130I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	198					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						CTTGTGTAATTAGAAACATTC	0.383																																						ENST00000398742.2																			0				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						c.(388-390)atT>atC		G protein-coupled receptor 111							117	110	112					6																	47647929		1909	4121	6030	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647929T>C	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.594T>C	6.37:g.47647929T>C						GPR111_ENST00000296862.1_Silent_p.I198I|GPR111_ENST00000507065.1_Silent_p.I130I	p.I130I			Q8IZF7	GP111_HUMAN			4	439	+			198					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.390T>C																																																																																					0.383	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		37	51	0	0	0	1	0	37	51					C	47647929	T	C	47647929	2	2	351	1	0	0	0	0	0	0	0	1	6628	1742	61	3		3	GPR111	6	47647929	Silent	SNP	T	TCGA-KT-A74X-01A-11D-A32B-08	11667806	47647929	123467138	7	33381											
SEMA3E	9723	broad.mit.edu	37	chr7	83029362	83029362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcccaataaacaagaCgtcatattggccatcctcag	6	13	2	1	rs190791287		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:83029362C>T	ENST00000307792.3	-	11	1815	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	450	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)				ATAAACAAGACGTCATATTGG	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17751	0.0		0.0	False		,,,				2504	0.0					ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1348-1350)Gtc>Atc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	183	166	172		1168,1348	5.4	1	7		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEMA3E	NM_001178129.1,NM_012431.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	390/716,450/776	83029362	1,13005	2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029362C>T	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.1348G>A	7.37:g.83029362C>T	ENSP00000303212:p.Val450Ile					SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I	p.V450I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			11	1815	-		Medulloblastoma(109;0.109)	450			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1348G>A	CCDS34674.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	28.6	4.938346	0.92526	0.0	1.16E-4	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.18502	2.21;2.21	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.062472	0.64402	D	0.000005	T	0.41396	0.1157	M	0.78916	2.43	0.80722	D	1	D	0.65815	0.995	P	0.58077	0.832	T	0.36187	-0.9758	10	0.66056	D	0.02	.	19.1567	0.93514	0.0:1.0:0.0:0.0	.	450	O15041	SEM3E_HUMAN	I	450;390;450	ENSP00000303212:V450I;ENSP00000405052:V390I	ENSP00000303212:V450I	V	-	1	0	SEMA3E	82867298	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.792000	0.85828	2.499000	0.84300	0.591000	0.81541	GTC		0.333	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		5	146	0	0	0	1	0	5	146					T	83029362	C	T	83029362	3	4	351	1	0	0	0	0	1	0	0	0	14028	536	19	1	1007	1	SEMA3E	7	83029362	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		83029362	76109301	8	33382											
PUS7	54517	broad.mit.edu	37	chr7	105148879	105148879	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtttttttgtctcttcAactgggactccactgtcatt	6	10	4	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:105148879A>G	ENST00000356362.2	-	2	295	c.81T>C	c.(79-81)gtT>gtC	p.V27V	PUS7_ENST00000469408.1_Silent_p.V27V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	27					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTGTCTCTTCAACTGGGACTC	0.473																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(79-81)gtT>gtC		pseudouridylate synthase 7 homolog (S. cerevisiae)							205	179	188					7																	105148879		2203	4300	6503	SO:0001819	synonymous_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148879A>G	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.81T>C	7.37:g.105148879A>G						PUS7_ENST00000469408.1_Silent_p.V27V	p.V27V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			2	295	-			27					Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	c.81T>C	CCDS34725.1																																																																																				0.473	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		50	51	0	0	0	1	0	50	51					G	105148879	A	G	105148879	2	3	351	1	0	0	0	0	0	0	0	1	12833	117	5	3		3	PUS7	7	105148879	Silent	SNP	A	TCGA-KT-A74X-01A-11D-A32B-08	22119517	105148879	53989784	9	33383											
CNOT4	4850	broad.mit.edu	37	chr7	135073582	135073582	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagacttgtaggctgctgTccttgttgtaatgaatggga	14	5	0	2			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:135073582T>C	ENST00000315544.5	-	11	1971	c.1692A>G	c.(1690-1692)ggA>ggG	p.G564G	CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000428680.2_Silent_p.G561G|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	564					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TAGGCTGCTGTCCTTGTTGTA	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1681-1683)ggA>ggG		CCR4-NOT transcription complex, subunit 4							154	148	150					7																	135073582		1966	4167	6133	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135073582T>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1692A>G	7.37:g.135073582T>C						CNOT4_ENST00000315544.5_Silent_p.G564G|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Intron	p.G561G	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			11	1962	-			564					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.1683A>G	CCDS55166.1																																																																																				0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		21	20	0	0	0	1	0	21	20					C	135073582	T	C	135073582	2	2	351	1	0	0	0	0	0	0	0	1	3621	1654	58	3		3	CNOT4	7	135073582	Silent	SNP	T	TCGA-KT-A74X-01A-11D-A32B-08	29924703	135073582	24065081	10	33384											
RAD54B	25788	broad.mit.edu	37	chr8	95403999	95403999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtagtgctcctggtcgGcaaaagacaacattctctat	8	10	2	1			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	549					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			1	Substitution - coding silent(1)	p.C549C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1645-1647)tgC>tgT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							120	126	124					8																	95403999		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403999G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A							p.C549C	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1771	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.1647C>T	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		4	201	0	0	0	1	0	4	201					A	95403999	G	A	95403999	2	1	351	1	0	0	0	0	0	0	0	1	12992	1195	42	2		2	RAD54B	8	95403999	Silent	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		95403999	50960023	11	33385											
DHTKD1	55526	broad.mit.edu	37	chr10	12131003	12131003	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgatgttccgtaaaatgCgaggcttaagtgaatttcca	10	7	0	2			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:12131003C>T	ENST00000263035.4	+	5	798	c.736C>T	c.(736-738)Cga>Tga	p.R246*	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	246					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCGTAAAATGCGAGGCTTAAG	0.458																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(736-738)Cga>Tga		dehydrogenase E1 and transketolase domain containing 1							125	114	118					10																	12131003		2203	4300	6503	SO:0001587	stop_gained	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131003C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.736C>T	10.37:g.12131003C>T	ENSP00000263035:p.Arg246*					DHTKD1_ENST00000465617.1_Intron	p.R246*	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	798	+		Renal(717;0.228)	246					Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	ENST00000263035.4	37	c.736C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127789	0.94473	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	.	.	.	5.1	3.18	0.36537	.	0.170219	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-0.0748	11.6501	0.51284	0.1404:0.7247:0.1349:0.0	.	.	.	.	X	246;181	.	ENSP00000263035:R246X	R	+	1	2	DHTKD1	12171009	1.000000	0.71417	0.977000	0.42913	0.615000	0.37417	1.829000	0.39121	0.498000	0.27948	0.563000	0.77884	CGA		0.458	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		4	94	0	0	0	1	0	4	94					T	12131003	C	T	12131003	4	4	351	1	0	0	0	0	0	1	0	0	4500	760	27	1	754	1	DHTKD1	10	12131003	Nonsense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		12131003	123403744	12	33386											
ARMC3	219681	broad.mit.edu	37	chr10	23326258	23326258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggagagtacggtagagcGtggaatgaagtcatgctgca	16	7	1	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:23326258G>A	ENST00000298032.5	+	19	2553	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	823						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						ACGGTAGAGCGTGGAATGAAG	0.542																																						ENST00000298032.5																			0				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						c.(2467-2469)gcG>gcA		armadillo repeat containing 3							123	116	118					10																	23326258		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23326258G>A	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.2469G>A	10.37:g.23326258G>A						ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	p.A823A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			19	2553	+			823					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.2469G>A	CCDS7142.1																																																																																				0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		4	65	0	0	0	1	0	4	65					A	23326258	G	A	23326258	2	1	351	1	0	0	0	0	0	0	0	1	952	1132	40	1		1	ARMC3	10	23326258	Silent	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	11195255	23326258	112208489	13	33387											
KCNMA1	3778	broad.mit.edu	37	chr10	79397261	79397263	+	In_Frame_Del	DEL	GAA	GAA	-													aggaggaagaagaagaagagGaagaggaggaggaggaggag					rs199671652|rs373115408|rs572827902	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:79397261_79397263delGAA	ENST00000286628.8	-	1	137_139	c.138_140delTTC	c.(136-141)tcttcc>tcc	p.46_47SS>S	KCNMA1_ENST00000372443.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000404771.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000286627.5_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000406533.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000354353.5_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000481070.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000404857.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000480683.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000372440.1_In_Frame_Del_p.46_47SS>S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	46	Poly-Ser.				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)	agaagaagaggaagaggaggagg	0.616																																						ENST00000286627.5																			0				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						c.(136-141)tcc>tc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)																																			SO:0001651	inframe_deletion	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79397261_79397263delGAA	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.138_140delTTC	10.37:g.79397261_79397263delGAA	ENSP00000286628:p.Ser60del					KCNMA1_ENST00000481070.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000480683.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000406533.3_In_Frame_Del_p.SS58del|KCNMA1_ENST00000286628.8_In_Frame_Del_p.SS58del|KCNMA1_ENST00000372443.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000354353.5_In_Frame_Del_p.SS58del|KCNMA1_ENST00000372440.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000404857.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000404771.3_In_Frame_Del_p.SS58del	p.SS58del	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		1	1090_1092	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		58			Poly-Ser.		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	In_Frame_Del	DEL	ENST00000286628.8	37	c.138_140delTTC																																																																																					0.616	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		5	8						5	8	---	---	---	---	-	79397263	GAA	-	79397261	7	5	351	1	0	1	0	1	0	0	0	0	8073	1174	41	0	3854	0	KCNMA1	10	79397261	In_Frame_Del	DEL	GAA	TCGA-KT-A74X-01A-11D-A32B-08	56071003	79397261	56137486	14	33388											
LMO1	4004	broad.mit.edu	37	chr11	8252034	8252034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccctttgggctggaCggagagcatcggcacgcctg	14	13	0	1	rs536636517		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr11:8252034C>T	ENST00000335790.3	-	2	538	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	LMO1_ENST00000534484.1_Missense_Mutation_p.V4I|LMO1_ENST00000428101.2_Missense_Mutation_p.V14I	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	15					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)		TTGGGCTGGACGGAGAGCATC	0.592			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							C|||	1	0.000199681	0.0	0.0	5008	,	,		21375	0.0		0.0	False		,,,				2504	0.001					ENST00000335790.3			yes	Dom	yes		11	11p15	4004	"T, A"	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	"T-ALL, neuroblastoma"		0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5						c.(43-45)Gtc>Atc		LIM domain only 1 (rhombotin 1)							102	107	105					11																	8252034		2197	4296	6493	SO:0001583	missense	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8252034C>T	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.43G>A	11.37:g.8252034C>T	ENSP00000338207:p.Val15Ile					LMO1_ENST00000534484.1_Missense_Mutation_p.V4I|LMO1_ENST00000428101.2_Missense_Mutation_p.V14I	p.V15I	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	2	538	-			15					E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	ENST00000335790.3	37	c.43G>A	CCDS44534.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379608	0.42207	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	T;T;T	0.29655	1.56;1.58;1.61	5.36	5.36	0.76844	.	0.140635	0.47852	D	0.000216	T	0.28732	0.0712	L	0.45581	1.43	0.52099	D	0.999943	B;B	0.20988	0.05;0.05	B;B	0.10450	0.005;0.005	T	0.05869	-1.0859	10	0.17832	T	0.49	.	17.275	0.87112	0.0:1.0:0.0:0.0	.	14;15	E9PSF5;P25800	.;RBTN1_HUMAN	I	15;14;4	ENSP00000338207:V15I;ENSP00000404538:V14I;ENSP00000435456:V4I	ENSP00000338207:V15I	V	-	1	0	LMO1	8208610	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.506000	0.81665	2.533000	0.85409	0.655000	0.94253	GTC		0.592	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		16	86	0	0	0	1	0	16	86					T	8252034	C	T	8252034	3	4	351	1	0	0	0	0	1	0	0	0	8851	536	19	1	439	1	LMO1	11	8252034	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		8252034	126754482	15	33389											
NEK3	4752	broad.mit.edu	37	chr13	52725327	52725327	+	Frame_Shift_Del	DEL	A	A	-													ccaaatttctggaggcacatAataaggagttcccacatagg							TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr13:52725327delA	ENST00000400357.2	-	6	1795	c.502delT	c.(502-504)tatfs	p.Y168fs	NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	168	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GGAGGCACATAATAAGGAGTT	0.393																																						ENST00000400357.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(502-504)atfs		NIMA-related kinase 3							101	90	93					13																	52725327		1872	4115	5987	SO:0001589	frameshift_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52725327delA	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.502delT	13.37:g.52725327delA	ENSP00000383210:p.Tyr168fs					NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs	p.Y168fs			P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	6	1795	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	168			Interaction with VAV2.|Protein kinase.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Frame_Shift_Del	DEL	ENST00000400357.2	37	c.502delT	CCDS53871.1																																																																																				0.393	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			2	4						2	4	---	---	---	---	-	52725327	A	-	52725327	7	5	351	1	0	1	0	1	0	0	0	0	10325	362	13	0	1058	0	NEK3	13	52725327	Frame_Shift_Del	DEL	A	TCGA-KT-A74X-01A-11D-A32B-08		52725327	62444551	16	33390											
WDR25	79446	broad.mit.edu	37	chr14	100934452	100934452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctccctgtggccggcGcatcctcagtggtggctttg	16	12	1	0	rs528448819		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr14:100934452G>A	ENST00000335290.6	+	3	1143	c.917G>A	c.(916-918)cGc>cAc	p.R306H	WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000542471.2_Missense_Mutation_p.R49H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	306										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGTGGCCGGCGCATCCTCAGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17583	0.001		0.0	False		,,,				2504	0.0					ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(916-918)cGc>cAc		WD repeat domain 25							128	122	124					14																	100934452		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100934452G>A	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"WD repeat domain containing"	21064	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 67"	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.917G>A	14.37:g.100934452G>A	ENSP00000334148:p.Arg306His					WDR25_ENST00000542471.2_Missense_Mutation_p.R49H|WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H	p.R306H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			3	1143	+		Melanoma(154;0.212)	306					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.917G>A	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483528	0.44147	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.99	2.74	0.32292	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.357352	0.23208	N	0.050716	T	0.45276	0.1334	L	0.46741	1.465	0.24909	N	0.992053	B;B	0.22276	0.067;0.027	B;B	0.15052	0.008;0.012	T	0.36672	-0.9738	10	0.44086	T	0.13	-21.2001	7.1209	0.25444	0.3236:0.0:0.6764:0.0	.	49;306	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	H	306;306;306;49	ENSP00000450661:R306H;ENSP00000385540:R306H;ENSP00000334148:R306H;ENSP00000441903:R49H	ENSP00000334148:R306H	R	+	2	0	WDR25	100004205	0.841000	0.29509	0.999000	0.59377	0.969000	0.65631	2.061000	0.41403	1.248000	0.43934	-0.142000	0.14014	CGC		0.637	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		4	175	0	0	0	1	0	4	175					A	100934452	G	A	100934452	3	1	351	1	0	0	0	0	1	0	0	0	17279	1087	38	1	923	1	WDR25	14	100934452	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		100934452	6415088	17	33391											
NOTCH3	4854	broad.mit.edu	37	chr19	15298084	15298084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgatgccatccacgcagcGaccatggtggcatgggtcag	15	12	1	0	rs75068032		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:15298084G>A	ENST00000263388.2	-	11	1747	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	558	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		R -> C (in CADASIL). {ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:11755616, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764, ECO:0000269|PubMed:9388399}.		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)			TCCACGCAGCGACCATGGTGG	0.652																																						ENST00000263388.2																			0				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	GRCh37	CM961046	NOTCH3	M	rs75068032	c.(1672-1674)Cgc>Tgc		notch 3							77	63	68					19																	15298084		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298084G>A	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.1672C>T	19.37:g.15298084G>A	ENSP00000263388:p.Arg558Cys						p.R558C	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		11	1747	-			558		R -> C (in CADASIL).	EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1672C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110570	0.77210	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87650	-2.28	4.51	3.38	0.38709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90126	0.6915	L	0.61036	1.89	0.44852	D	0.997863	D;D	0.67145	0.996;0.99	D;P	0.70716	0.97;0.86	D	0.89234	0.3579	9	0.62326	D	0.03	.	7.0819	0.25235	0.0:0.1585:0.536:0.3056	.	561;558	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	558;560	ENSP00000263388:R558C	ENSP00000263388:R558C	R	-	1	0	NOTCH3	15159084	0.240000	0.23847	1.000000	0.80357	0.901000	0.52897	1.767000	0.38501	2.215000	0.71742	0.655000	0.94253	CGC		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	39	0	0	0	1	0	3	39					A	15298084	G	A	15298084	3	1	351	1	0	0	0	0	1	0	0	0	10550	1058	37	1	5385	1	NOTCH3	19	15298084	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		15298084	43830899	18	33392											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	12	16	2	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		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)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	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						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66	65	65					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	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.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R215Q|CIC_ENST00000575354.2_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	12	0	0	0	1	0	34	12					A	42791758	G	A	42791758	3	1	351	1	0	0	0	0	1	0	0	0	3424	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	27493674	42791758	16337225	19	33393											
NSFL1C	55968	broad.mit.edu	37	chr20	1433682	1433682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttttcactcaccctctgCggatagactccagaaactgg	8	13	3	2	rs202113163		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:1433682C>T	ENST00000216879.4	-	6	1508	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	214	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					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						TCACCCTCTGCGGATAGACTC	0.458																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(640-642)cGc>cAc		NSFL1 (p97) cofactor (p47)		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	181	170	174		647,641,548	5.2	1	20		174	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	NSFL1C	NM_001206736.1,NM_016143.4,NM_018839.4	29,29,29	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging,probably-damaging,probably-damaging	216/373,214/371,183/340	1433682	7,12999	2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433682C>T	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.641G>A	20.37:g.1433682C>T	ENSP00000216879:p.Arg214His					NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000461211.1_5'UTR	p.R214H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			6	1508	-			214			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.641G>A	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946615	0.92593	0.0	8.14E-4	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.47869	0.83;0.83;0.84;0.87;0.84	5.21	5.21	0.72293	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.76170	2.325	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.95;0.993;0.996	T	0.71663	-0.4525	10	0.72032	D	0.01	-11.5243	17.5459	0.87861	0.0:1.0:0.0:0.0	.	183;103;214	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	H	183;216;214;103;216	ENSP00000338643:R183H;ENSP00000418529:R216H;ENSP00000216879:R214H;ENSP00000371074:R103H;ENSP00000202584:R216H	ENSP00000216879:R214H	R	-	2	0	NSFL1C	1381682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.787000	0.62432	2.890000	0.99128	0.650000	0.86243	CGC		0.458	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		5	171	0	0	0	1	0	5	171					T	1433682	C	T	1433682	3	4	351	1	0	0	0	0	1	0	0	0	10672	768	27	1	487	1	NSFL1C	20	1433682	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		1433682	61591838	20	33394											
ASIP	434	broad.mit.edu	37	chr20	32856864	32856864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccctgcgtggccacccGcaacagctgcaagccgccgg	13	18	0	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:32856864G>T	ENST00000568305.1	+	4	492	c.290G>T	c.(289-291)cGc>cTc	p.R97L	ASIP_ENST00000374954.3_Missense_Mutation_p.R97L|RP4-785G19.5_ENST00000512005.1_RNA			P42127	ASIP_HUMAN	agouti signaling protein	97	Agouti. {ECO:0000255|PROSITE- ProRule:PRU00494}.				adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						GTGGCCACCCGCAACAGCTGC	0.701																																						ENST00000568305.1																			0				central_nervous_system(1)|lung(2)	3						c.(289-291)cGc>cTc		agouti signaling protein							7	9	8					20																	32856864		2084	4149	6233	SO:0001583	missense	434				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		g.chr20:32856864G>T		CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"nonagouti homolog (mouse)"	600201	"agouti (mouse)-signaling protein", "agouti signaling protein, nonagouti homolog (mouse)"	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.290G>T	20.37:g.32856864G>T	ENSP00000454804:p.Arg97Leu					RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.R97L	p.R97L			P42127	ASIP_HUMAN			4	492	+			97			Agouti.		Q3SXL2	Missense_Mutation	SNP	ENST00000568305.1	37	c.290G>T	CCDS13232.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513816	0.44763	.	.	ENSG00000101440	ENST00000374954	T	0.28454	1.61	4.72	3.77	0.43336	.	0.686407	0.14356	N	0.324763	T	0.43433	0.1247	M	0.81802	2.56	0.34188	D	0.671776	P	0.47409	0.895	P	0.53266	0.722	T	0.52328	-0.8590	10	0.10636	T	0.68	3.8813	8.6501	0.34029	0.1038:0.0:0.8962:0.0	.	97	P42127	ASIP_HUMAN	L	97	ENSP00000364092:R97L	ENSP00000364092:R97L	R	+	2	0	ASIP	32320525	0.987000	0.35691	0.990000	0.47175	0.096000	0.18686	2.086000	0.41643	1.223000	0.43536	-0.350000	0.07774	CGC		0.701	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1			3	7	1	0	0.004672	1	0.004672	3	7					T	32856864	G	T	32856864	3	4	351	1	0	0	0	0	1	0	0	0	1043	1087	38	4	300	4	ASIP	20	32856864	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	31423182	32856864	30168656	21	33395											
BRWD1	54014	broad.mit.edu	37	chr21	40670456	40670456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaacataggaccgatgCgctggcagatttgcaaaaga	10	9	0	2	rs199917402		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:40670456C>T	ENST00000333229.2	-	5	578	c.251G>A	c.(250-252)cGc>cAc	p.R84H	BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000342449.3_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	84					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)				AGGACCGATGCGCTGGCAGAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		17048	0.0		0.001	False		,,,				2504	0.0				Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				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						c.(250-252)cGc>cAc		bromodomain and WD repeat domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	122	128	126		251,251,251	5.6	1	21		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BRWD1	NM_001007246.2,NM_018963.4,NM_033656.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	84/121,84/2321,84/2270	40670456	1,13005	2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40670456C>T	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.251G>A	21.37:g.40670456C>T	ENSP00000330753:p.Arg84His					BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000333229.2_Missense_Mutation_p.R84H	p.R84H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			5	329	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	84					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.251G>A	CCDS13662.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.1	4.493995	0.84962	0.0	1.16E-4	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.55	5.55	0.83447	.	0.079263	0.53938	D	0.000047	T	0.58495	0.2126	L	0.53780	1.695	0.48975	D	0.999737	D;D;P	0.89917	0.999;1.0;0.653	P;D;B	0.83275	0.884;0.996;0.103	T	0.57676	-0.7770	10	0.52906	T	0.07	-4.4169	12.7972	0.57565	0.0:0.925:0.0:0.0749	.	84;84;84	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	H	84	ENSP00000330753:R84H;ENSP00000344333:R84H;ENSP00000370178:R84H;ENSP00000342106:R84H	ENSP00000330753:R84H	R	-	2	0	BRWD1	39592326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.726000	0.54977	2.623000	0.88846	0.467000	0.42956	CGC		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		4	142	0	0	0	1	0	4	142					T	40670456	C	T	40670456	3	4	351	1	0	0	0	0	1	0	0	0	1525	768	27	1	7116	1	BRWD1	21	40670456	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		40670456	7459439	22	33396											
TRPM2	7226	broad.mit.edu	37	chr21	45861581	45861581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgttcttccagaacctgCacgcctgcgactcgggggcc	11	16	1	1			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:45861581C>T	ENST00000397928.1	+	32	4838	c.4393C>T	c.(4393-4395)Cac>Tac	p.H1465Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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						CCAGAACCTGCACGCCTGCGA	0.662																																						ENST00000397928.1																			0				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						c.(4393-4395)Cac>Tac		transient receptor potential cation channel, subfamily M, member 2							53	43	46					21																	45861581		2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861581C>T	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.4393C>T	21.37:g.45861581C>T	ENSP00000381023:p.His1465Tyr					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y	p.H1465Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			32	4838	+			1465			Nudix hydrolase.		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4393C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639126	0.29157	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.01	2.1	0.27182	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.822657	0.10868	N	0.625312	T	0.13756	0.0333	L	0.50333	1.59	0.09310	N	0.999999	P;P;B;B	0.45827	0.867;0.475;0.337;0.337	B;B;B;B	0.41036	0.346;0.099;0.099;0.099	T	0.16453	-1.0402	10	0.72032	D	0.01	-4.1281	6.9448	0.24512	0.0:0.7254:0.1752:0.0995	.	146;1515;1251;1465	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	Y	1465;1465;1411;1515;209	ENSP00000300482:H1465Y;ENSP00000381023:H1465Y;ENSP00000300481:H1411Y;ENSP00000381026:H1515Y	ENSP00000300481:H1411Y	H	+	1	0	TRPM2	44686009	0.008000	0.16893	0.159000	0.22649	0.015000	0.08874	-0.037000	0.12164	0.436000	0.26393	0.655000	0.94253	CAC		0.662	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		3	21	0	0	0	1	0	3	21					T	45861581	C	T	45861581	3	4	351	1	0	0	0	0	1	0	0	0	16583	710	25	2	4519	2	TRPM2	21	45861581	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08	5191125	45861581	2268314	23	33397											
MN1	4330	broad.mit.edu	37	chr22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-													tttggcgctgctgctgctgcTgctgttgctgttgctgttgc					rs202212250|rs530519178	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				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						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(1630-1638)cag>ca		meningioma (disrupted in balanced translocation) 1				149,3245		28,93,1576						0.6	1		dbSNP_131	5	263,6801		42,179,3311	no	coding	MN1	NM_002430.2		70,272,4887	A1A1,A1R,RR		3.7231,4.3901,3.9396				412,10046				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194895_28194900delTGCTGT	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.1632_1637delACAGCA	22.37:g.28194901_28194906delTGCTGT	ENSP00000304956:p.Gln548_Gln549del						p.QQQ547del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2586_2591	-			547			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1632_1637delACAGCA	CCDS42998.1																																																																																				0.646	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	6						7	6	---	---	---	---	-	28194900	TGCTGT	-	28194895	7	5	351	1	0	1	0	1	0	0	0	0	9673	1580	55	0	2333	0	MN1	22	28194895	In_Frame_Del	DEL	TGCTGT	TCGA-KT-A74X-01A-11D-A32B-08		28194895	23109671	24	33398											
SATL1	340562	broad.mit.edu	37	chrX	84362997	84362997	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccacatgcctggttggctCctacctaattgccatgtgcc	10	14	0	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chrX:84362997C>T	ENST00000395409.3	-	1	977	c.417G>A	c.(415-417)agG>agA	p.R139R	SATL1_ENST00000332921.5_Silent_p.R139R|SATL1_ENST00000509231.1_Silent_p.R326R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	139	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCCTACCTAATT	0.527																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(976-978)agG>agA		spermidine/spermine N1-acetyl transferase-like 1							208	129	156					X																	84362997		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84362997C>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.417G>A	X.37:g.84362997C>T						SATL1_ENST00000395409.3_Silent_p.R139R|SATL1_ENST00000332921.5_Silent_p.R139R	p.R326R			Q86VE3	SATL1_HUMAN			1	1057	-			139			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.978G>A																																																																																					0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		28	7	0	0	0	1	0	28	7					T	84362997	C	T	84362997	2	4	351	1	0	0	0	0	0	0	0	1	13855	854	30	2		2	SATL1	23	84362997	Silent	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		84362997	70907563	25	33399											
PTPRC	5788	broad.mit.edu	37	chr1	198676002	198676002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcataaccttacagaAtgtaaaaatgcgtctgtttc	9	7	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:198676002A>G	ENST00000367376.2	+	9	990	c.819A>G	c.(817-819)gaA>gaG	p.E273E	PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000348564.6_Silent_p.E114E|PTPRC_ENST00000594404.1_Silent_p.E112E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					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						ACCTTACAGAATGTAAAAATG	0.318																																						ENST00000367376.2																			0				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						c.(817-819)gaA>gaG		protein tyrosine phosphatase, receptor type, C							151	155	154					1																	198676002		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198676002A>G	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.819A>G	1.37:g.198676002A>G						PTPRC_ENST00000348564.6_Silent_p.E114E|PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000594404.1_Silent_p.E112E	p.E273E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			9	990	+			273					A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.819A>G																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				54	93	0	0	0	1	0	54	93					G	198676002	A	G	198676002	2	3	352	1	0	0	0	0	0	0	0	1	12797	98	4	3		3	PTPRC	1	198676002	Silent	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08		198676002	50574619	1	33400											
KCNH1	3756	broad.mit.edu	37	chr1	211307260	211307260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttttgaggggccactaGtcccctcctgcccccagcca	10	17	0	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:211307260G>A	ENST00000271751.4	-	1	55	c.28C>T	c.(28-30)Cta>Tta	p.L10L	KCNH1-IT1_ENST00000438597.1_RNA|KCNH1_ENST00000367007.4_Silent_p.L10L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	10					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGCCACTAGTCCCCTCCTG	0.607											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(28-30)Cta>Tta		potassium voltage-gated channel, subfamily H (eag-related), member 1							81	88	86					1																	211307260		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211307260G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.28C>T	1.37:g.211307260G>A			OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2197	KCNH1_ENST00000271751.4_Silent_p.L10L	p.L10L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	1	197	-			10					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.28C>T	CCDS1496.1																																																																																				0.607	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		30	52	0	0	0	1	0	30	52					A	211307260	G	A	211307260	2	1	352	1	0	0	0	0	0	0	0	1	8031	1020	36	2		2	KCNH1	1	211307260	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	12631258	211307260	37943361	2	33401											
C2orf48	348738	broad.mit.edu	37	chr2	10350625	10350625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaagaatgcacagaggGcgctgggctccaagcttcag	12	12	2	2	rs556910395		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:10350625G>A	ENST00000381786.3	+	4	671	c.382G>A	c.(382-384)Gcg>Acg	p.A128T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		TGCACAGAGGGCGCTGGGCTC	0.587																																						ENST00000381786.3																			0				endometrium(1)|lung(7)	8						c.(382-384)Gcg>Acg		chromosome 2 open reading frame 48							63	67	66					2																	10350625		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10350625G>A	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.382G>A	2.37:g.10350625G>A	ENSP00000371205:p.Ala128Thr						p.A128T	NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	4	671	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		128						Missense_Mutation	SNP	ENST00000381786.3	37	c.382G>A	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	G	9.703	1.154947	0.21371	.	.	ENSG00000163009	ENST00000381786	T	0.38401	1.14	1.51	-2.58	0.06228	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.16453	-1.0402	9	0.87932	D	0	.	2.1569	0.03814	0.4561:0.0:0.2962:0.2477	.	128	Q96LS8	CB048_HUMAN	T	128	ENSP00000371205:A128T	ENSP00000371205:A128T	A	+	1	0	C2orf48	10268076	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.336000	0.19823	-0.894000	0.03925	0.549000	0.68633	GCG		0.587	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		23	48	0	0	0	1	0	23	48					A	10350625	G	A	10350625	3	1	352	1	0	0	0	0	1	0	0	0	2170	1203	42	2	392	2	C2orf48	2	10350625	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		10350625	232848748	3	33402											
TTN	7273	broad.mit.edu	37	chr2	179473345	179473345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttaccaaatggatcttTagccacaagtggctttgaaa	7	8	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179473345T>C	ENST00000591111.1	-	224	47694	c.47470A>G	c.(47470-47472)Aaa>Gaa	p.K15824E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17465E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15824	Fibronectin type-III 14. {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)			AATGGATCTTTAGCCACAAGT	0.363																																						ENST00000589042.1																			0				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						c.(52393-52395)Aaa>Gaa		titin							52	51	51					2																	179473345		1855	4098	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473345T>C	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.47470A>G	2.37:g.179473345T>C	ENSP00000465570:p.Lys15824Glu					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN_ENST00000591111.1_Missense_Mutation_p.K15824E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.K17465E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	52617	-			15824			Ig-like 103.		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	ENST00000591111.1	37	c.52393A>G		.	.	.	.	.	.	.	.	.	.	T	12.94	2.089404	0.36855	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.72	5.72	0.89469	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59059	0.2166	L	0.49513	1.565	0.51767	D	0.99993	D;D;D;D	0.58268	0.982;0.982;0.982;0.982	P;P;P;P	0.51266	0.591;0.591;0.591;0.664	T	0.63492	-0.6625	9	0.87932	D	0	.	15.9966	0.80256	0.0:0.0:0.0:1.0	.	8400;8525;8592;15824	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14897;8400;8592;8525;8400	ENSP00000343764:K14897E;ENSP00000434586:K8400E;ENSP00000340554:K8592E;ENSP00000352154:K8525E	ENSP00000340554:K8592E	K	-	1	0	TTN	179181590	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.179000	0.69175	0.460000	0.39030	AAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	13	0	0	0	1	0	8	13					C	179473345	T	C	179473345	3	2	352	1	0	0	0	0	1	0	0	0	16732	1763	61	3	55656	3	TTN	2	179473345	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	169122720	179473345	63726028	4	33403											
TTN	7273	broad.mit.edu	37	chr2	179495965	179495965	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctaatttcacactgtagaaTaacttcatctttctctacac	3	11	4	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179495965T>A	ENST00000591111.1	-	187	39111	c.38887A>T	c.(38887-38889)Att>Ttt	p.I12963F	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I14604F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F			Q8WZ42	TITIN_HUMAN	titin	12963	Ig-like 86.				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)			CACTGTAGAATAACTTCATCT	0.353																																						ENST00000589042.1																			0				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						c.(43810-43812)Att>Ttt		titin							85	77	79					2																	179495965		1848	4111	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495965T>A	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.38887A>T	2.37:g.179495965T>A	ENSP00000465570:p.Ile12963Phe					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN_ENST00000591111.1_Missense_Mutation_p.I12963F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F|TTN-AS1_ENST00000592630.1_RNA	p.I14604F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		237	44034	-			12963			Fibronectin type-III 5.		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	ENST00000591111.1	37	c.43810A>T		.	.	.	.	.	.	.	.	.	.	T	12.65	2.001158	0.35320	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.71	-6.67	0.01783	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41050	0.1142	L	0.58101	1.795	0.27810	N	0.942169	B;B;B;B	0.31274	0.317;0.317;0.317;0.317	B;B;B;B	0.36418	0.224;0.224;0.224;0.224	T	0.50398	-0.8833	9	0.87932	D	0	.	15.7021	0.77549	0.0:0.4828:0.0:0.5172	.	5539;5664;5731;12963	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	12036;5539;5731;5664;5539	ENSP00000343764:I12036F;ENSP00000434586:I5539F;ENSP00000340554:I5731F;ENSP00000352154:I5664F	ENSP00000340554:I5731F	I	-	1	0	TTN	179204210	0.001000	0.12720	0.900000	0.35374	0.963000	0.63663	-0.429000	0.06982	-1.142000	0.02869	-0.250000	0.11733	ATT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	26	0	0	0	1	0	16	26					A	179495965	T	A	179495965	3	1	352	1	0	0	0	0	1	0	0	0	16732	1406	49	5	64387	5	TTN	2	179495965	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	22620	179495965	63703408	5	33404											
PIK3CA	5290	broad.mit.edu	37	chr3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacctgtttacacgttcatGtgctggatactgtgtagcta	10	8	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.C901F(7)		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)	ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		7	Substitution - Missense(7)	p.C901F(7)	endometrium(4)|large_intestine(2)|stomach(1)	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						c.(2701-2703)tGt>tTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							220	207	211					3																	178947827		1906	4131	6037	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947827G>T		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.2702G>T	3.37:g.178947827G>T	ENSP00000263967:p.Cys901Phe	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C901F	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2859	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		901			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2702G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506649	0.85282	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.090376	0.85682	D	0.000000	D	0.90051	0.6893	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91894	0.5526	10	0.87932	D	0	-11.1303	19.6363	0.95735	0.0:0.0:1.0:0.0	.	901	P42336	PK3CA_HUMAN	F	901	ENSP00000263967:C901F	ENSP00000263967:C901F	C	+	2	0	PIK3CA	180430521	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	9.367000	0.97148	2.648000	0.89879	0.585000	0.79938	TGT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			83	112	1	0	9.90312e-32	1	1.07171e-31	83	112					T	178947827	G	T	178947827	3	4	352	1	0	0	0	0	1	0	0	0	11913	1377	48	4	2772	4	PIK3CA	3	178947827	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		178947827	19074603	6	33405											
RBM47	54502	broad.mit.edu	37	chr4	40440525	40440525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtagttgttgagctcaCgcactgcgcgcttggcctcg	12	13	2	1	rs373211767		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:40440525C>T	ENST00000381793.2	-	3	782	c.386G>A	c.(385-387)cGt>cAt	p.R129H	RBM47_ENST00000319592.4_Missense_Mutation_p.R129H|RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTGAGCTCACGCACTGCGCG	0.627																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(385-387)cGt>cAt		RNA binding motif protein 47		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	58	49	52		386,386	4.6	1	4		52	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RBM47	NM_001098634.1,NM_019027.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	129/594,129/525	40440525	2,13004	2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440525C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.386G>A	4.37:g.40440525C>T	ENSP00000371212:p.Arg129His					RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.R129H	p.R129H			A0AV96	RBM47_HUMAN			4	1095	-			129			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.386G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500685	0.64298	0.0	2.33E-4	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782	T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.44	4.58	0.56647	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	L	0.48877	1.53	0.58432	D	0.999999	D;P	0.76494	0.999;0.819	P;P	0.61592	0.891;0.652	T	0.01136	-1.1440	10	0.87932	D	0	-17.4793	11.9114	0.52741	0.0:0.8615:0.0:0.1385	.	129;129	A0AV96-2;A0AV96	.;RBM47_HUMAN	H	129;129;129;129;91;129;129;129;129	ENSP00000320108:R129H;ENSP00000371212:R129H;ENSP00000371214:R129H;ENSP00000295971:R129H;ENSP00000423243:R91H;ENSP00000422564:R129H;ENSP00000421589:R129H;ENSP00000423527:R129H;ENSP00000426542:R129H	ENSP00000295971:R129H	R	-	2	0	RBM47	40135282	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.086000	0.57664	2.554000	0.86153	0.313000	0.20887	CGT		0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		33	37	0	0	0	1	0	33	37					T	40440525	C	T	40440525	3	4	352	1	0	0	0	0	1	0	0	0	13141	536	19	1	1411	1	RBM47	4	40440525	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		40440525	150713751	7	33406											
IBSP	3381	broad.mit.edu	37	chr4	88732645	88732645	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaggcataaacggcacCagtaccaacagcacagaggc	10	12	0	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:88732645C>A	ENST00000226284.5	+	7	604	c.537C>A	c.(535-537)acC>acA	p.T179T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	179					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAACGGCACCAGTACCAACA	0.483																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(535-537)acC>acA		integrin-binding sialoprotein							168	149	156					4																	88732645		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732645C>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.537C>A	4.37:g.88732645C>A							p.T179T	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	604	+		Hepatocellular(203;0.114)	179						Silent	SNP	ENST00000226284.5	37	c.537C>A	CCDS3624.1																																																																																				0.483	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			17	17	1	0	0.000566183	1	0.000573442	17	17					A	88732645	C	A	88732645	2	1	352	1	0	0	0	0	0	0	0	1	7475	581	21	4		4	IBSP	4	88732645	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	48292120	88732645	102421631	8	33407											
TKTL2	84076	broad.mit.edu	37	chr4	164394265	164394265	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtattccatccaaaggcttCacagcaattctggtagatgt	8	9	2	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:164394265C>A	ENST00000280605.3	-	1	782	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	208						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(622-624)Gaa>Taa		transketolase-like 2							74	74	74					4																	164394265		2203	4300	6503	SO:0001587	stop_gained	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394265C>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"similar to transketolase"					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.622G>T	4.37:g.164394265C>A	ENSP00000280605:p.Glu208*						p.E208*	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	782	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	208					A4FVB4|Q8NCT0|Q96M82	Nonsense_Mutation	SNP	ENST00000280605.3	37	c.622G>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587060	0.66105	.	.	ENSG00000151005	ENST00000280605	.	.	.	4.03	3.16	0.36331	.	0.063989	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.2249	11.673	0.51413	0.0:0.8106:0.1894:0.0	.	.	.	.	X	208	.	ENSP00000280605:E208X	E	-	1	0	TKTL2	164613715	1.000000	0.71417	0.041000	0.18516	0.015000	0.08874	4.555000	0.60767	1.229000	0.43630	0.655000	0.94253	GAA		0.517	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		36	66	1	0	1.69901e-12	1	1.78963e-12	36	66					A	164394265	C	A	164394265	4	1	352	1	0	0	0	0	0	1	0	0	15933	835	29	4	1262	4	TKTL2	4	164394265	Nonsense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	75661620	164394265	26760011	9	33408											
TRIML1	339976	broad.mit.edu	37	chr4	189068385	189068385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatatagcattctacaaCgggacggatgaatccctcat	9	10	2	1	rs145647080		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:189068385C>T	ENST00000332517.3	+	6	1406	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CATTCTACAACGGGACGGATG	0.517													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18123	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1264-1266)aaC>aaT		tripartite motif family-like 1		C		3,4403	6.2+/-15.9	0,3,2200	141	127	132		1266	-5.8	0.3	4	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIML1	NM_178556.3		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		422/469	189068385	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068385C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1266C>T	4.37:g.189068385C>T						TRIML1_ENST00000507581.1_3'UTR	p.N422N	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1406	+		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	422			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1266C>T	CCDS3851.1																																																																																				0.517	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		60	61	0	0	0	1	0	60	61					T	189068385	C	T	189068385	2	4	352	1	0	0	0	0	0	0	0	1	16547	535	19	1		1	TRIML1	4	189068385	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	24674120	189068385	2085891	10	33409											
ADCY2	108	broad.mit.edu	37	chr5	7626306	7626306	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccaatgtgatcattttcatCtgtgggaacctggcgggagc	13	9	3	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:7626306C>G	ENST00000338316.4	+	4	686	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	199				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATTTTCATCTGTGGGAACC	0.448																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(595-597)atC>atG		adenylate cyclase 2 (brain)							162	157	159					5																	7626306		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626306C>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.597C>G	5.37:g.7626306C>G	ENSP00000342952:p.Ile199Met						p.I199M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			4	686	+			199	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).				B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.597C>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049333	0.36181	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.77229	-1.08	5.09	5.09	0.68999	.	0.193145	0.47093	D	0.000244	T	0.69151	0.3079	L	0.34521	1.04	0.80722	D	1	B	0.19445	0.036	B	0.17098	0.017	T	0.64487	-0.6396	10	0.34782	T	0.22	.	16.0304	0.80574	0.0:1.0:0.0:0.0	.	199	Q08462	ADCY2_HUMAN	M	199;50	ENSP00000342952:I199M	ENSP00000342952:I199M	I	+	3	3	ADCY2	7679306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.663000	0.37429	2.520000	0.84964	0.655000	0.94253	ATC		0.448	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		55	85	0	0	0	1	0	55	85					G	7626306	C	G	7626306	3	3	352	1	0	0	0	0	1	0	0	0	294	903	32	4	611	4	ADCY2	5	7626306	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		7626306	173288954	11	33410											
FST	10468	broad.mit.edu	37	chr5	52779405	52779405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaacaaaccccgctgcGtctgcgccccggattgttcc	10	15	1	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:52779405G>A	ENST00000256759.3	+	3	732	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	FST_ENST00000396947.3_Missense_Mutation_p.V117I	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	117	Follistatin-like 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACCCCGCTGCGTCTGCGCCCC	0.507																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(349-351)Gtc>Atc		follistatin							74	72	73					5																	52779405		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52779405G>A	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.349G>A	5.37:g.52779405G>A	ENSP00000256759:p.Val117Ile					FST_ENST00000256759.3_Missense_Mutation_p.V117I	p.V117I	NM_006350.3	NP_006341.1	P19883	FST_HUMAN			3	515	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	117			Follistatin-like 1.|Kazal-like 1.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.349G>A	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204133	0.95033	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947	T;T	0.64085	-0.08;-0.08	5.76	4.89	0.63831	Proteinase inhibitor I1, Kazal (1);Follistatin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.66506	2.035	0.80722	D	1	P	0.42785	0.79	B	0.38327	0.271	T	0.63363	-0.6654	10	0.41790	T	0.15	-23.1605	14.9904	0.71384	0.0685:0.0:0.9314:0.0	.	117	P19883	FST_HUMAN	I	117	ENSP00000256759:V117I;ENSP00000380151:V117I	ENSP00000256759:V117I	V	+	1	0	FST	52815162	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.869000	0.99810	1.440000	0.47531	0.491000	0.48974	GTC		0.507	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		10	41	0	0	0	1	0	10	41					A	52779405	G	A	52779405	3	1	352	1	0	0	0	0	1	0	0	0	6076	1145	40	1	359	1	FST	5	52779405	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	45153099	52779405	128135855	12	33411											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725296	140725296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgagatcctgtaccccGccctccccacagacggttcc	8	21	0	2	rs200275256		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:140725296G>A	ENST00000253812.6	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667																																						ENST00000253812.6																			0				breast(1)	1						c.(1696-1698)Gcc>Acc									110	121	118					5																	140725296		2203	4298	6501	SO:0001583	missense	0							g.chr5:140725296G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1696G>A	5.37:g.140725296G>A	ENSP00000253812:p.Ala566Thr					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A566T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1696	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1696G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.849	-0.739321	0.03088	.	.	ENSG00000254245	ENST00000253812	T	0.47528	0.84	5.42	-10.8	0.00216	Cadherin-like (1);	0.603585	0.12181	N	0.492128	T	0.18718	0.0449	N	0.12746	0.255	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.15484	0.013;0.001	T	0.09662	-1.0664	10	0.17369	T	0.5	.	8.0393	0.30513	0.6802:0.0653:0.1374:0.1171	.	566;566	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	566	ENSP00000253812:A566T	ENSP00000253812:A566T	A	+	1	0	PCDHGA3	140705480	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-4.230000	0.00270	-2.723000	0.00388	-0.471000	0.05019	GCC		0.667	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		86	111	0	0	0	1	0	86	111					A	140725296	G	A	140725296	3	1	352	1	0	0	0	0	1	0	0	0	11555	1087	38	1	1698	1	PCDHGA3	5	140725296	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	87945891	140725296	40189964	13	33412											
C6orf125	84300	broad.mit.edu	37	chr6	33665460	33665460	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatcctcctcaggacccttGggggcaaacttctcctgcag	10	14	2	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr6:33665460G>T	ENST00000607484.1	-	4	391	c.351C>A	c.(349-351)ccC>ccA	p.P117P	UQCC2_ENST00000374214.3_Silent_p.P92P|SBP1_ENST00000594414.1_5'Flank|MIR3934_ENST00000579806.1_RNA	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	117					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CAGGACCCTTGGGGGCAAACT	0.488																																						ENST00000607484.1																			0											c.(349-351)ccC>ccA									106	100	102					6																	33665460		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:33665460G>T		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"Mitochondrial respiratory chain complex assembly factors"	21237	protein-coding gene	gene with protein product	"cytochrome B protein synthesis 6 homolog (S. cerevisiae)"	614461	"chromosome 6 open reading frame 125", "mitochondrial nucleoid factor 1"	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.351C>A	6.37:g.33665460G>T						MNF1_ENST00000374214.3_Silent_p.P92P	p.P117P	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN			4	391	-			117					B2R4I0	Silent	SNP	ENST00000607484.1	37	c.351C>A	CCDS4784.1																																																																																				0.488	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		32	42	1	0	7.61165e-28	1	8.12596e-28	32	42					T	33665460	G	T	33665460	2	4	352	1	0	0	0	0	0	0	0	1	2325	1335	47	4		4	C6orf125	6	33665460	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		33665460	137449607	14	33413											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	13	9	0	2	rs149840192		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.A289V(20)|p.A289D(3)		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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	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						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		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.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		7	1043	+	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)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		25	1388	0	0	0	1	0	25	1388					T	55221822	C	T	55221822	3	4	352	1	0	0	0	0	1	0	0	0	4967	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		55221822	103916841	15	33414											
EGFR	1956	broad.mit.edu	37	chr7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcttgaggatcttgaagGaaactgaattcaaaaagatc	8	7	3	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|E -> G (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15623594}.|E -> K (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		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)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		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)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		20	Substitution - Missense(19)|Deletion - Frameshift(1)	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)	lung(15)|upper_aerodigestive_tract(2)|prostate(2)|ovary(1)	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						c.(2125-2127)Gaa>Aaa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88	91	90					7																	55241677		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241677G>A		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.2125G>A	7.37:g.55241677G>A	ENSP00000275493:p.Glu709Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K	p.E709K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		18	2302	+	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)		709		E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2125G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304179	0.95601	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61859	0.07;0.07;0.07	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.71581	2.175	0.80722	D	1	P;P	0.49862	0.929;0.912	B;P	0.46172	0.283;0.506	T	0.70454	-0.4867	10	0.87932	D	0	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	664;709	Q504U8;P00533	.;EGFR_HUMAN	K	664;579;709;656	ENSP00000415559:E664K;ENSP00000275493:E709K;ENSP00000395243:E656K	ENSP00000275493:E709K	E	+	1	0	EGFR	55209171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.833000	0.99426	2.745000	0.94114	0.563000	0.77884	GAA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		546	2133	0	0	0	1	0	546	2133					A	55241677	G	A	55241677	3	1	352	1	0	0	0	0	1	0	0	0	4967	1175	41	2	2459	2	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	19855	55241677	103896986	16	33415			1	38		2	2	32	G		5.407399e-05
EGFR	1956	broad.mit.edu	37	chr7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaaagatcaaagtgctggGctccggtgcgttcggcacgg	14	10	1	1	rs121913428		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241708G>A	ENST00000275493.2	+	18	2333	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> C (found in a lung cancer sample; dbSNP:rs28929495). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|G -> D (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		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)	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		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)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		32	Substitution - Missense(31)|Deletion - Frameshift(1)	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)	lung(30)|oesophagus(1)|central_nervous_system(1)	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						c.(2155-2157)gGc>gAc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68	70	69					7																	55241708		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241708G>A		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.2156G>A	7.37:g.55241708G>A	ENSP00000275493:p.Gly719Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D	p.G719D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		18	2333	+	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)		719		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).	Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2156G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639359	0.67244	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78364	-1.17;-1.17;-1.17	5.5	5.5	0.81552	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	0.90469	0.7015	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.92165	0.5739	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	674;719	Q504U8;P00533	.;EGFR_HUMAN	D	674;589;719;666	ENSP00000415559:G674D;ENSP00000275493:G719D;ENSP00000395243:G666D	ENSP00000275493:G719D	G	+	2	0	EGFR	55209202	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		385	1641	0	0	0	1	0	385	1641					A	55241708	G	A	55241708	3	1	352	1	0	0	0	0	1	0	0	0	4967	1203	42	2	2490	2	EGFR	7	55241708	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	31	55241708	103896955	17	33416			1	38		2	2	32	G		5.407399e-05
PLXNA4	91584	broad.mit.edu	37	chr7	131844257	131844257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatatctgcagctttgggCcggtgggagcaaggcacatt	13	10	1	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:131844257C>T	ENST00000359827.3	-	25	5597	c.4635G>A	c.(4633-4635)cgG>cgA	p.R1545R	PLXNA4_ENST00000321063.4_Silent_p.R1545R			Q9HCM2	PLXA4_HUMAN	plexin A4	1545					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCTTTGGGCCGGTGGGAGC	0.557																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4633-4635)cgG>cgA		plexin A4							190	205	200					7																	131844257		2196	4300	6496	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131844257C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4635G>A	7.37:g.131844257C>T						PLXNA4_ENST00000321063.4_Silent_p.R1545R	p.R1545R			Q9HCM2	PLXA4_HUMAN			25	5597	-			1545					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.4635G>A	CCDS43646.1																																																																																				0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	307	0	0	0	1	0	5	307					T	131844257	C	T	131844257	2	4	352	1	0	0	0	0	0	0	0	1	12122	726	26	2		2	PLXNA4	7	131844257	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	76602549	131844257	27294406	18	33417											
OPRK1	4986	broad.mit.edu	37	chr8	54142151	54142151	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggagtccagcagacgacGaagactgccaccaccaccag	11	14	0	2	rs201485656		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr8:54142151G>A	ENST00000265572.3	-	4	1146	c.849C>T	c.(847-849)ttC>ttT	p.F283F	OPRK1_ENST00000520287.1_Silent_p.F283F|OPRK1_ENST00000524278.1_Silent_p.F194F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGCAGACGACGAAGACTGCCA	0.577																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(847-849)ttC>ttT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	G		0,4406		0,0,2203	72	75	74		849	-1.6	0	8		74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OPRK1	NM_000912.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		283/381	54142151	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142151G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.849C>T	8.37:g.54142151G>A						OPRK1_ENST00000524278.1_Silent_p.F194F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.F283F	p.F283F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	1146	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	283					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.849C>T	CCDS6152.1																																																																																				0.577	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			20	18	0	0	0	1	0	20	18					A	54142151	G	A	54142151	2	1	352	1	0	0	0	0	0	0	0	1	10885	1049	37	1		1	OPRK1	8	54142151	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		54142151	92221871	19	33418											
SEC16A	9919	broad.mit.edu	37	chr9	139371999	139371999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctagcccagaacacGctccgaggattcccggctgg	14	14	0	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr9:139371999G>A	ENST00000313050.7	-	1	142	c.69C>T	c.(67-69)agC>agT	p.S23S	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_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)		CCCAGAACACGCTCCGAGGAT	0.597																																						ENST00000313050.7																			0				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						c.(67-69)agC>agT		SEC16 homolog A (S. cerevisiae)							20	20	20					9																	139371999		1893	4089	5982	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371999G>A	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.69C>T	9.37:g.139371999G>A							p.S23S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	142	-		Myeloproliferative disorder(178;0.0511)	1999					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000313050.7	37	c.69C>T	CCDS55351.1																																																																																				0.597	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		12	23	0	0	0	1	0	12	23					A	139371999	G	A	139371999	2	1	352	1	0	0	0	0	0	0	0	1	13986	1078	38	1		1	SEC16A	9	139371999	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		139371999	1841432	20	33419											
OR51E2	81285	broad.mit.edu	37	chr11	4703280	4703280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgcagaaccgttcgtAttatcagaaaataggacaag	10	7	1	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:4703280A>G	ENST00000396950.3	-	2	901	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	221					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGTTCGTATTATCAGAAA	0.488																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(661-663)aTa>aCa		olfactory receptor, family 51, subfamily E, member 2							96	85	88					11																	4703280		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703280A>G	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.662T>C	11.37:g.4703280A>G	ENSP00000380153:p.Ile221Thr						p.I221T	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	901	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	221					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.662T>C	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808393	0.50421	.	.	ENSG00000167332	ENST00000396950	T	0.00198	8.57	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000071	T	0.00412	0.0013	M	0.79805	2.47	0.09310	N	1	P	0.52316	0.952	P	0.55824	0.785	T	0.39396	-0.9616	10	0.87932	D	0	.	8.3095	0.32062	0.9112:0.0:0.0888:0.0	.	221	Q9H255	O51E2_HUMAN	T	221	ENSP00000380153:I221T	ENSP00000380153:I221T	I	-	2	0	OR51E2	4659856	0.976000	0.34144	0.224000	0.23877	0.825000	0.46686	7.864000	0.87037	2.092000	0.63282	0.533000	0.62120	ATA		0.488	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		18	37	0	0	0	1	0	18	37					G	4703280	A	G	4703280	3	3	352	1	0	0	0	0	1	0	0	0	11095	449	16	3	304	3	OR51E2	11	4703280	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08		4703280	130303236	21	33420											
OR4S1	256148	broad.mit.edu	37	chr11	48328178	48328178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactacacagccatcatggAttgccggaagtgtggcctgc	12	12	1	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:48328178A>G	ENST00000319988.1	+	1	404	c.404A>G	c.(403-405)gAt>gGt	p.D135G		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	135						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						GCCATCATGGATTGCCGGAAG	0.582																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(403-405)gAt>gGt		olfactory receptor, family 4, subfamily S, member 1							101	90	94					11																	48328178		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328178A>G	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.404A>G	11.37:g.48328178A>G	ENSP00000321447:p.Asp135Gly						p.D135G	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	404	+			135					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.404A>G	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532541	0.27387	.	.	ENSG00000176555	ENST00000319988	T	0.36340	1.26	4.89	-6.37	0.01963	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34428	-0.9829	9	0.72032	D	0.01	.	9.608	0.39645	0.1846:0.2519:0.5636:0.0	.	135	Q8NGB4	OR4S1_HUMAN	G	135	ENSP00000321447:D135G	ENSP00000321447:D135G	D	+	2	0	OR4S1	48284754	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	-3.230000	0.00548	-1.119000	0.02958	0.459000	0.35465	GAT		0.582	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		41	37	0	0	0	1	0	41	37					G	48328178	A	G	48328178	3	3	352	1	0	0	0	0	1	0	0	0	11082	333	12	3	406	3	OR4S1	11	48328178	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08	43624898	48328178	86678338	22	33421											
EHD1	10938	broad.mit.edu	37	chr11	64622120	64622120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgtcgatgccctcgccGgccccctcgccgtagccgtg	12	19	0	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:64622120G>A	ENST00000320631.3	-	5	1544	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.A430A	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	430					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						TGCCCTCGCCGGCCCCCTCGC	0.662																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1288-1290)gcC>gcT		EH-domain containing 1							114	101	105					11																	64622120		2201	4297	6498	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622120G>A	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.1290C>T	11.37:g.64622120G>A						EHD1_ENST00000359393.2_Silent_p.A430A|EHD1_ENST00000488711.1_5'UTR	p.A430A	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1544	-			430					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1290C>T	CCDS8084.1																																																																																				0.662	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		4	122	0	0	0	1	0	4	122					A	64622120	G	A	64622120	2	1	352	1	0	0	0	0	0	0	0	1	4977	1103	39	1		1	EHD1	11	64622120	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	16293942	64622120	70384396	23	33422											
DCUN1D5	84259	broad.mit.edu	37	chr11	102937266	102937266	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcgcaaaaagtcaaaTttgttttgtaacttttctgt	8	5	2	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:102937266T>C	ENST00000260247.5	-	5	714	c.372A>G	c.(370-372)aaA>aaG	p.K124K	DCUN1D5_ENST00000531543.1_Silent_p.K39K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	124	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		AAAAGTCAAATTTGTTTTGTA	0.303																																						ENST00000260247.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)	4						c.(370-372)aaA>aaG		DCN1, defective in cullin neddylation 1, domain containing 5							71	69	69					11																	102937266		2202	4298	6500	SO:0001819	synonymous_variant	84259							g.chr11:102937266T>C		CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.372A>G	11.37:g.102937266T>C						DCUN1D5_ENST00000531543.1_Silent_p.K39K	p.K124K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)	5	714	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	124			DCUN1.		Q3ZTT2	Silent	SNP	ENST00000260247.5	37	c.372A>G	CCDS8325.1	.	.	.	.	.	.	.	.	.	.	T	8.929	0.963035	0.18583	.	.	ENSG00000137692	ENST00000527260	.	.	.	5.74	3.45	0.39498	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52396	-0.8581	4	.	.	.	-13.5961	9.4221	0.38557	0.0:0.1456:0.0:0.8544	.	.	.	.	V	96	.	.	I	-	1	0	DCUN1D5	102442476	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.363000	0.34159	0.467000	0.27218	-0.379000	0.06801	ATT		0.303	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386382.2	NM_032299		31	37	0	0	0	1	0	31	37					C	102937266	T	C	102937266	2	2	352	1	0	0	0	0	0	0	0	1	4317	1490	52	3		3	DCUN1D5	11	102937266	Silent	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	38315146	102937266	32069250	24	33423											
MDM2	4193	broad.mit.edu	37	chr12	69222647	69222647	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcctggctctgtgtgTaataagggagatatgttgtg	14	4	1	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:69222647T>A	ENST00000350057.5	+	6	527	c.527T>A	c.(526-528)gTa>gAa	p.V176E	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|RP11-611O2.1_ENST00000544710.1_RNA|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.V207E|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000544561.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	201	Interaction with MTBP. {ECO:0000250}.|Interaction with PYHIN1 and necessary for interaction with RFFL and RNF34. {ECO:0000269|PubMed:16479015, ECO:0000269|PubMed:18382127}.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|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)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCTCTGTGTGTAATAAGGGAG	0.403			A		"sarcoma, glioma, colorectal, other"																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(619-621)gTa>gAa		MDM2 oncogene, E3 ubiquitin protein ligase							168	160	163					12																	69222647		1900	4114	6014	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69222647T>A		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.527T>A	12.37:g.69222647T>A	ENSP00000266624:p.Val176Glu					MDM2_ENST00000545204.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.V176E|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E	p.V207E	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		8	922	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		201			Interaction with MTBP (By similarity).|Interaction with PYHIN1.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.620T>A		.	.	.	.	.	.	.	.	.	.	T	19.81	3.896905	0.72639	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000311440;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000350057	T;T;T;T;T	0.51574	1.36;0.71;0.7;0.75;1.37	4.74	3.56	0.40772	SWIB/MDM2 domain (1);	0.115335	0.64402	N	0.000018	T	0.39384	0.1076	L	0.35854	1.095	0.80722	D	1	B;B;B;B	0.31383	0.321;0.027;0.07;0.069	B;B;B;B	0.37239	0.244;0.012;0.082;0.039	T	0.12553	-1.0543	9	.	.	.	-2.35	11.4867	0.50358	0.1346:0.0:0.0:0.8654	.	156;201;152;207	Q00987-9;Q00987;G3XA89;Q00987-11	.;MDM2_HUMAN;.;.	E	207;156;146;201;162;152;201;201;176	ENSP00000417281:V207E;ENSP00000258149:V146E;ENSP00000258148:V152E;ENSP00000444430:V201E;ENSP00000266624:V176E	.	V	+	2	0	MDM2	67508914	1.000000	0.71417	0.935000	0.37517	0.947000	0.59692	3.860000	0.55995	0.882000	0.36016	0.383000	0.25322	GTA		0.403	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		53	57	0	0	0	1	0	53	57					A	69222647	T	A	69222647	3	1	352	1	0	0	0	0	1	0	0	0	9413	1638	57	5	650	5	MDM2	12	69222647	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08		69222647	64629248	25	33424											
TMEM132D	121256	broad.mit.edu	37	chr12	130184803	130184803	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacctctcgggtctctcGgaaagcaaagaccctcaggc	10	16	3	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:130184803G>A	ENST00000422113.2	-	2	846	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	174					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)		CGGGTCTCTCGGAAAGCAAAG	0.682																																						ENST00000422113.2																			0				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						c.(520-522)Cga>Tga		transmembrane protein 132D							17	19	18					12																	130184803		2200	4299	6499	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:130184803G>A	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.520C>T	12.37:g.130184803G>A	ENSP00000408581:p.Arg174*						p.R174*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	846	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	174					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.520C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.381057	0.98786	.	.	ENSG00000151952	ENST00000422113	.	.	.	5.33	0.577	0.17385	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.175	15.9826	0.80125	0.0:0.0:0.5372:0.4628	.	.	.	.	X	174	.	.	R	-	1	2	TMEM132D	128750756	1.000000	0.71417	0.964000	0.40570	0.959000	0.62525	2.118000	0.41949	0.173000	0.19788	0.555000	0.69702	CGA		0.682	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	13	0	0	0	1	0	16	13					A	130184803	G	A	130184803	4	1	352	1	0	0	0	0	0	1	0	0	16044	1124	39	1	2811	1	TMEM132D	12	130184803	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	60962156	130184803	3667092	26	33425											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465957	24465957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcccttgggaccaggctttCcaatagggcccatggggccc	12	15	0	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:24465957C>A	ENST00000382140.2	-	5	533	c.473G>T	c.(472-474)gGa>gTa	p.G158V	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.G158V|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	158	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ACCAGGCTTTCCAATAGGGCC	0.627																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(472-474)gGa>gTa		C1q and tumor necrosis factor related protein 9B							28	38	35					13																	24465957		2201	4298	6499	SO:0001583	missense	387911					collagen		g.chr13:24465957C>A	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.473G>T	13.37:g.24465957C>A	ENSP00000371575:p.Gly158Val					C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G158V|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA	p.G158V	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	541	-			158			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.473G>T	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	17.19	3.325600	0.60743	.	.	ENSG00000205863	ENST00000457983;ENST00000382137;ENST00000382140	D;D	0.99353	-5.77;-5.77	3.73	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98951	1.0794	10	0.87932	D	0	.	15.7876	0.78319	0.0:1.0:0.0:0.0	.	158	B2RNN3	C1T9B_HUMAN	V	29;158;158	ENSP00000371572:G158V;ENSP00000371575:G158V	ENSP00000371572:G158V	G	-	2	0	C1QTNF9B	23363957	1.000000	0.71417	0.998000	0.56505	0.498000	0.33706	7.026000	0.76455	1.950000	0.56595	0.456000	0.33151	GGA		0.627	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		12	38	1	0	2.80697e-09	1	2.87988e-09	12	38					A	24465957	C	A	24465957	3	1	352	1	0	0	0	0	1	0	0	0	1971	855	30	4	531	4	C1QTNF9B	13	24465957	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		24465957	90703921	27	33426											
ELF1	1997	broad.mit.edu	37	chr13	41517272	41517272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaactcccaaagataaaTtgtgtttcctgaaacaaaaa	4	7	0	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:41517272T>C	ENST00000239882.3	-	7	936	c.622A>G	c.(622-624)Att>Gtt	p.I208V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	208					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAGATAAATTGTGTTTCCT	0.343																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(622-624)Att>Gtt		E74-like factor 1 (ets domain transcription factor)							48	48	48					13																	41517272		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41517272T>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.622A>G	13.37:g.41517272T>C	ENSP00000239882:p.Ile208Val					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	p.I208V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	7	936	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	208					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.622A>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233895	0.79688	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.23348	1.91;1.91	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.061011	0.64402	D	0.000002	T	0.42154	0.1190	L	0.41632	1.29	0.49130	D	0.999751	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.16512	-1.0400	10	0.45353	T	0.12	.	15.8816	0.79208	0.0:0.0:0.0:1.0	.	184;208	E9PDQ9;P32519	.;ELF1_HUMAN	V	184;208	ENSP00000405580:I184V;ENSP00000239882:I208V	ENSP00000239882:I208V	I	-	1	0	ELF1	40415272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.857000	0.69525	2.150000	0.67090	0.533000	0.62120	ATT		0.343	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		28	35	0	0	0	1	0	28	35					C	41517272	T	C	41517272	3	2	352	1	0	0	0	0	1	0	0	0	5053	1493	52	3	1249	3	ELF1	13	41517272	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	17051315	41517272	73652606	28	33427											
RBM25	58517	broad.mit.edu	37	chr14	73577739	73577739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttcctctgccagtggCaatgcaacacctaacactcc	6	15	2	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr14:73577739C>T	ENST00000261973.7	+	15	2178	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	RBM25_ENST00000527432.1_Silent_p.G631G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	631	Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGCCAGTGGCAATGCAACAC	0.498																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1891-1893)ggC>ggT		RNA binding motif protein 25							98	85	90					14																	73577739		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73577739C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1893C>T	14.37:g.73577739C>T						RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.G631G	p.G631G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	15	2178	+			631			Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.1893C>T	CCDS32113.1																																																																																				0.498	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		4	31	0	0	0	1	0	4	31					T	73577739	C	T	73577739	2	4	352	1	0	0	0	0	0	0	0	1	13125	697	25	2		2	RBM25	14	73577739	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		73577739	33771801	29	33428											
BAIAP3	8938	broad.mit.edu	37	chr16	1396250	1396250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctggcatggccagaggGggccacggggcccgaggggg	23	11	0	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:1396250G>A	ENST00000324385.5	+	25	2644	c.2486G>A	c.(2485-2487)gGg>gAg	p.G829E	BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	829					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)				TGGCCAGAGGGGGCCACGGGG	0.692																																						ENST00000324385.5																			0				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						c.(2485-2487)gGg>gAg		BAI1-associated protein 3							22	27	25					16																	1396250		2191	4291	6482	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396250G>A	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.2486G>A	16.37:g.1396250G>A	ENSP00000324510:p.Gly829Glu					BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E	p.G829E	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			25	2644	+		Hepatocellular(780;0.0893)	829					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.2486G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.018122	0.00418	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69926	-0.43;-0.44;-0.44;-0.44;-0.43	3.98	1.8	0.24995	.	0.487974	0.21088	N	0.080374	T	0.51227	0.1662	L	0.47716	1.5	0.24973	N	0.991652	B;B;B;B	0.33583	0.021;0.01;0.01;0.418	B;B;B;B	0.28784	0.008;0.007;0.012;0.094	T	0.34279	-0.9835	10	0.12103	T	0.63	-38.3693	10.8304	0.46656	0.0:0.5467:0.4533:0.0	.	758;771;829;811	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	E	794;811;829;811;758	ENSP00000407242:G794E;ENSP00000380625:G811E;ENSP00000324510:G829E;ENSP00000380626:G811E;ENSP00000409533:G758E	ENSP00000324510:G829E	G	+	2	0	BAIAP3	1336251	1.000000	0.71417	0.393000	0.26258	0.045000	0.14185	1.399000	0.34566	0.849000	0.35215	0.491000	0.48974	GGG		0.692	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			10	9	0	0	0	1	0	10	9					A	1396250	G	A	1396250	3	1	352	1	0	0	0	0	1	0	0	0	1304	1232	43	2	2584	2	BAIAP3	16	1396250	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		1396250	88958503	30	33429											
GRIN2A	2903	broad.mit.edu	37	chr16	9857178	9857178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggaacagtacgatgccGttgacctcaaggacgaccga	11	13	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:9857178G>A	ENST00000396573.2	-	14	4532	c.4223C>T	c.(4222-4224)aCg>aTg	p.T1408M	GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000404927.2_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1408					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)	GTACGATGCCGTTGACCTCAA	0.493																																						ENST00000396573.2																			0				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						c.(4222-4224)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						112	96	102					16																	9857178		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857178G>A		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.4223C>T	16.37:g.9857178G>A	ENSP00000379818:p.Thr1408Met					GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M	p.T1408M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4532	-			1408					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4223C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032396	0.75504	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.12569	2.67;2.67;2.67	5.79	5.79	0.91817	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.045781	0.85682	D	0.000000	T	0.38241	0.1033	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01266	-1.1401	9	.	.	.	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1408	Q12879	NMDE1_HUMAN	M	1408	ENSP00000379818:T1408M;ENSP00000332549:T1408M;ENSP00000379820:T1408M	.	T	-	2	0	GRIN2A	9764679	1.000000	0.71417	0.980000	0.43619	0.999000	0.98932	7.520000	0.81821	2.733000	0.93635	0.655000	0.94253	ACG		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			24	38	0	0	0	1	0	24	38					A	9857178	G	A	9857178	3	1	352	1	0	0	0	0	1	0	0	0	6779	1145	40	1	175	1	GRIN2A	16	9857178	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	8460928	9857178	80497575	31	33430											
GPR139	124274	broad.mit.edu	37	chr16	20043248	20043248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccatggtgcggaaccGcttgctgatgaagcagtaga	15	9	0	3	rs556069972		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:20043248G>A	ENST00000570682.1	-	2	1171	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGCGGAACCGCTTGCTGATG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19797	0.0		0.0	False		,,,				2504	0.001					ENST00000570682.1																			1	Substitution - Missense(1)	p.R291W(1)	large_intestine(1)	autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(871-873)Cgg>Tgg		G protein-coupled receptor 139							108	107	107					16																	20043248		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043248G>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.871C>T	16.37:g.20043248G>A	ENSP00000458791:p.Arg291Trp						p.R291W	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1171	-			291					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.871C>T	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373073	0.61624	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	N	0.19112	0.55	0.58432	D	0.999996	D	0.89917	1.0	D	0.69654	0.965	T	0.64373	-0.6423	9	0.87932	D	0	-29.5547	13.4138	0.60958	0.0:0.0:0.5488:0.4512	.	291	Q6DWJ6	GP139_HUMAN	W	291	.	ENSP00000370779:R291W	R	-	1	2	GPR139	19950749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.409000	0.52657	0.623000	0.30267	0.655000	0.94253	CGG		0.502	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		56	65	0	0	0	1	0	56	65					A	20043248	G	A	20043248	3	1	352	1	0	0	0	0	1	0	0	0	6648	1086	38	1	194	1	GPR139	16	20043248	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	10186070	20043248	70311505	32	33431											
DDX19A	55308	broad.mit.edu	37	chr16	70404224	70404224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtggagcagagggctgcGgtgattgagcgcttccgaga	18	7	0	4	rs189321243	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:70404224G>A	ENST00000302243.7	+	10	1282	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	DDX19A_ENST00000417604.2_Silent_p.A342A|DDX19A_ENST00000443119.2_Silent_p.A283A	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	373	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAGGGCTGCGGTGATTGAGC	0.597													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16152	0.0		0.001	False		,,,				2504	0.0					ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(1117-1119)gcG>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A							149	126	134					16																	70404224		2198	4300	6498	SO:0001819	synonymous_variant	55308							g.chr16:70404224G>A	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1119G>A	16.37:g.70404224G>A						DDX19A_ENST00000443119.2_Silent_p.A283A|DDX19A_ENST00000417604.2_Silent_p.A342A	p.A373A	NM_018332.3	NP_060802.1					10	1282	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.1119G>A	CCDS10889.1																																																																																				0.597	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		13	26	0	0	0	1	0	13	26					A	70404224	G	A	70404224	2	1	352	1	0	0	0	0	0	0	0	1	4346	1103	39	1		1	DDX19A	16	70404224	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	50360976	70404224	19950529	33	33432											
RNF167	26001	broad.mit.edu	37	chr17	4848111	4848111	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcctggggacgaagaccaaGaggaagaaactcaagggcaa	14	8	1	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:4848111G>T	ENST00000262482.6	+	10	1509	c.853G>T	c.(853-855)Gag>Tag	p.E285*	RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	285					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						CGAAGACCAAGAGGAAGAAAC	0.602																																						ENST00000262482.6																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(853-855)Gag>Tag		ring finger protein 167							136	132	133					17																	4848111		2203	4300	6503	SO:0001587	stop_gained	26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4848111G>T	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.853G>T	17.37:g.4848111G>T	ENSP00000262482:p.Glu285*					RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*	p.E285*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN			10	1509	+			285					D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Nonsense_Mutation	SNP	ENST00000262482.6	37	c.853G>T	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	G	39	7.603038	0.98384	.	.	ENSG00000108523	ENST00000262482	.	.	.	4.88	3.92	0.45320	.	0.350509	0.29459	N	0.012090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-5.5947	10.8404	0.46710	0.0923:0.0:0.9077:0.0	.	.	.	.	X	285	.	ENSP00000262482:E285X	E	+	1	0	RNF167	4788856	0.996000	0.38824	0.996000	0.52242	0.819000	0.46315	3.770000	0.55310	1.274000	0.44362	0.557000	0.71058	GAG		0.602	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		10	93	1	0	0.000978159	1	0.000978159	10	93					T	4848111	G	T	4848111	4	4	352	1	0	0	0	0	0	1	0	0	13458	943	33	4	887	4	RNF167	17	4848111	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		4848111	76347099	34	33433											
SLFN12L	100506736	broad.mit.edu	37	chr17	33802177	33802177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagatctttgtcatgacaCacacttttttagtgtaacca	6	8	2	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:33802177C>T	ENST00000260908.7	-	4	1649	c.1532G>A	c.(1531-1533)tGt>tAt	p.C511Y	SLFN12L_ENST00000361112.4_Missense_Mutation_p.C540Y|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.C542Y	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	511						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGTCATGACACACACTTTTTT	0.393																																						ENST00000260908.7																			0				breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						c.(1531-1533)tGt>tAt		schlafen family member 12-like							233	176	193					17																	33802177		692	1591	2283	SO:0001583	missense	100506736					integral to membrane	ATP binding	g.chr17:33802177C>T	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.1532G>A	17.37:g.33802177C>T	ENSP00000437635:p.Cys511Tyr					SLFN12L_ENST00000361112.4_Missense_Mutation_p.C540Y|SLFN12L_ENST00000449046.1_Missense_Mutation_p.C542Y	p.C511Y	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN			4	1649	-			543					F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.1532G>A	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.266159	0.40095	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.08546	3.11;3.23;3.08	2.37	0.038	0.14199	.	.	.	.	.	T	0.09512	0.0234	M	0.82517	2.595	0.09310	N	1	P	0.47484	0.896	B	0.35813	0.211	T	0.25222	-1.0138	9	0.87932	D	0	.	2.7694	0.05329	0.2739:0.5545:0.0:0.1717	.	540	Q6IEE8-2	.	Y	511;540;542	ENSP00000437635:C511Y;ENSP00000354412:C540Y;ENSP00000389348:C542Y	ENSP00000437635:C511Y	C	-	2	0	SLFN12L	30826290	0.045000	0.20229	0.000000	0.03702	0.543000	0.35085	1.570000	0.36439	-0.091000	0.12440	0.195000	0.17529	TGT		0.393	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206		34	54	0	0	0	1	0	34	54					T	33802177	C	T	33802177	3	4	352	1	0	0	0	0	1	0	0	0	14735	478	17	2	238	2	SLFN12L	17	33802177	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	28954066	33802177	47393033	35	33434											
KRT19	3880	broad.mit.edu	37	chr17	39680190	39680190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcagcgcctggatatgCgccagctgggctccaaagcg	13	13	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39680190C>T	ENST00000361566.3	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A	KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	336	Coil 2.|Necessary for interaction with PNN.|Rod.				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)				CCTGGATATGCGCCAGCTGGG	0.592																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(1006-1008)gcG>gcA		keratin 19							41	42	42					17																	39680190		2203	4300	6503	SO:0001819	synonymous_variant	3880							g.chr17:39680190C>T		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.1008G>A	17.37:g.39680190C>T							p.A336A	NM_002276.4	NP_002267.2					6	1068	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	c.1008G>A	CCDS11399.1																																																																																				0.592	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		31	41	0	0	0	1	0	31	41					T	39680190	C	T	39680190	2	4	352	1	0	0	0	0	0	0	0	1	8456	755	27	1		1	KRT19	17	39680190	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	5878013	39680190	41515020	36	33435											
TCEB3B	51224	broad.mit.edu	37	chr18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttgcttcccgggcgcagCgggctcagggccctcgggca	18	14	1	0	rs149522210		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(559-561)Gct>Act		transcription elongation factor B polypeptide 3B (elongin A2)		C	THR/ALA,	0,4368		0,0,2184	25	30	28		559,	-1.5	0	18	dbSNP_134	28	2,8558		0,2,4278	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	58,	0,2,6462	TT,TC,CC		0.0234,0.0,0.0155	possibly-damaging,	187/754,	44561077	2,12926	2184	4280	6464	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561077C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.559G>A	18.37:g.44561077C>T	ENSP00000331302:p.Ala187Thr					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A187T	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	911	-			187					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.559G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	2.704	-0.270262	0.05716	0.0	2.34E-4	ENSG00000206181	ENST00000332567	T	0.06687	3.27	1.35	-1.55	0.08558	.	2.801650	0.02300	N	0.071111	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P	0.36733	0.567	B	0.22753	0.041	T	0.34527	-0.9825	10	0.16896	T	0.51	0.2097	4.5325	0.12011	0.0:0.5059:0.0:0.4941	.	187	Q8IYF1	ELOA2_HUMAN	T	187	ENSP00000331302:A187T	ENSP00000331302:A187T	A	-	1	0	TCEB3B	42815075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.651000	0.05372	-0.455000	0.07054	-0.498000	0.04607	GCT		0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		25	31	0	0	0	1	0	25	31					T	44561077	C	T	44561077	3	4	352	1	0	0	0	0	1	0	0	0	15679	768	27	1	1706	1	TCEB3B	18	44561077	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		44561077	33516171	37	33436											
ZNF700	90592	broad.mit.edu	37	chr19	12059661	12059661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaagaactcacactggGgagaagccctatgaatgtag	11	8	1	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:12059661G>A	ENST00000254321.5	+	4	965	c.822G>A	c.(820-822)ggG>ggA	p.G274G	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Silent_p.G256G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCACACTGGGGAGAAGCCCT	0.368																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(766-768)ggG>ggA		zinc finger protein 700							45	44	44					19																	12059661		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059661G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.822G>A	19.37:g.12059661G>A						ZNF700_ENST00000254321.5_Silent_p.G274G|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	p.G256G			Q9H0M5	ZN700_HUMAN			3	1186	+			274					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.768G>A	CCDS32915.1																																																																																				0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		20	50	0	0	0	1	0	20	50					A	12059661	G	A	12059661	2	1	352	1	0	0	0	0	0	0	0	1	18101	1219	43	2		2	ZNF700	19	12059661	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		12059661	47069322	38	33437											
MAST3	23031	broad.mit.edu	37	chr19	18245714	18245714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtgggccatgggcgtcGtcctctatgagtttctggtg	15	9	2	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18245714G>A	ENST00000262811.6	+	16	1705	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						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						CATGGGCGTCGTCCTCTATGA	0.632																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1705-1707)Gtc>Atc		microtubule associated serine/threonine kinase 3							98	106	103					19																	18245714		2062	4217	6279	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18245714G>A	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.1705G>A	19.37:g.18245714G>A	ENSP00000262811:p.Val569Ile						p.V569I	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			16	1705	+			569			Protein kinase.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1705G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	5.645	0.303656	0.10678	.	.	ENSG00000099308	ENST00000262811	T	0.24723	1.84	4.8	0.811	0.18739	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.270108	0.40728	N	0.001035	T	0.07188	0.0182	N	0.02334	-0.595	0.32713	N	0.511322	B	0.06786	0.001	B	0.06405	0.002	T	0.42666	-0.9438	10	0.02654	T	1	-29.6574	8.0084	0.30338	0.8171:0.0:0.1829:0.0	.	569	O60307	MAST3_HUMAN	I	569	ENSP00000262811:V569I	ENSP00000262811:V569I	V	+	1	0	MAST3	18106714	1.000000	0.71417	0.983000	0.44433	0.967000	0.64934	2.549000	0.45803	0.249000	0.21456	0.313000	0.20887	GTC		0.632	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		31	109	0	0	0	1	0	31	109					A	18245714	G	A	18245714	3	1	352	1	0	0	0	0	1	0	0	0	9326	1145	40	1	1767	1	MAST3	19	18245714	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	6186053	18245714	40883269	39	33438											
UPF1	5976	broad.mit.edu	37	chr19	18958595	18958596	+	Frame_Shift_Ins	INS	-	-	A													cctgcgtggtttactgtaatINSaccagcaagaagtggttctg							TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18958595_18958596insA	ENST00000599848.1	+	3	623_624	c.414_415insA	c.(415-417)accfs	p.T139fs	UPF1_ENST00000262803.5_Frame_Shift_Ins_p.T139fs			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	139	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTTACTGTAATACCAGCAAGAA	0.436											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(412-417)aaccagfs		UPF1 regulator of nonsense transcripts homolog (yeast)																																				SO:0001589	frameshift_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18958595_18958596insA	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.415dupA	19.37:g.18958596_18958596dupA	ENSP00000470142:p.Thr139fs		OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	729	UPF1_ENST00000599848.1_Frame_Shift_Ins_p.NQ138fs	p.NQ138fs	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			3	686_687	+			138			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Frame_Shift_Ins	INS	ENST00000599848.1	37	c.414_415insA																																																																																					0.436	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		47	88						47	88	---	---	---	---	A	18958596	-	A	18958595	7	5	352	1	0	1	1	0	0	0	0	0	17000	1403	49	0	424	0	UPF1	19	18958595	Frame_Shift_Ins	INS	-	TCGA-KT-A7W1-01A-11D-A34A-08	712881	18958595	40170388	40	33439											
PSG9	5678	broad.mit.edu	37	chr19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccccttccaggtgatgCgctgtgtgcaggaaggggct	17	10	0	1	rs142118461	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:43773549C>T	ENST00000270077.3	-	1	131	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000244293.7_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622													T|||	2	0.000399361	0.0	0.0	5008	,	,		16625	0.0		0.0	False		,,,				2504	0.002					ENST00000244293.7																			1	Substitution - Missense(1)	p.R12H(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(34-36)cGc>cAc		pregnancy specific beta-1-glycoprotein 9		T	HIS/ARG	2,4404		0,2,2201	106	102	103		35	-4.3	0	19	dbSNP_134	103	3,8597		0,3,4297	no	missense	PSG9	NM_002784.3	29	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	benign	12/427	43773549	5,13001	2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43773549C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.35G>A	19.37:g.43773549C>T	ENSP00000270077:p.Arg12His					PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H|PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H	p.R12H			Q00887	PSG9_HUMAN			1	101	-		Prostate(69;0.00682)	12					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.35G>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	a	0.651	-0.809417	0.02798	4.54E-4	3.49E-4	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.45276	0.9;2.43;2.72;1.73	2.17	-4.34	0.03666	.	.	.	.	.	T	0.13329	0.0323	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.15141	0.012;0.003;0.006;0.0;0.001	B;B;B;B;B	0.10450	0.002;0.002;0.005;0.002;0.001	T	0.04255	-1.0965	9	0.19147	T	0.46	.	1.5305	0.02534	0.1396:0.2816:0.1389:0.4399	.	12;12;12;12;12	E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;PSG9_HUMAN	H	12	ENSP00000270077:R12H;ENSP00000291752:R12H;ENSP00000396753:R12H;ENSP00000244293:R12H	ENSP00000244293:R12H	R	-	2	0	PSG9	48465389	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.074000	0.00154	-3.895000	0.00094	-3.946000	0.00015	CGC		0.622	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		5	224	0	0	0	1	0	5	224					T	43773549	C	T	43773549	3	4	352	1	0	0	0	0	1	0	0	0	12662	768	27	1	1269	1	PSG9	19	43773549	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	24814954	43773549	15355434	41	33440											
ZNF283	284349	broad.mit.edu	37	chr19	44352638	44352638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgagaagctttatcaaCgtaaggaattcgggaagacc	12	7	1	2	rs111879759		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:44352638C>T	ENST00000324461.7	+	7	2182	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	629			R -> H (in dbSNP:rs1061768).		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)				GCTTTATCAACGTAAGGAATT	0.393																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(1885-1887)Cgt>Tgt		zinc finger protein 283							103	111	108					19																	44352638		2074	4236	6310	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352638C>T	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.1885C>T	19.37:g.44352638C>T	ENSP00000327314:p.Arg629Cys					ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	p.R629C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	2182	+		Prostate(69;0.0352)	629		R -> H (in dbSNP:rs1061768).			B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1885C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.242673	0.00274	.	.	ENSG00000167637	ENST00000324461	T	0.03524	3.9	2.61	0.459	0.16678	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00468	0.0015	N	0.00004	-3.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44513	-0.9323	9	0.02654	T	1	.	6.7867	0.23677	0.0:0.2446:0.0:0.7554	.	629	Q8N7M2	ZN283_HUMAN	C	629	ENSP00000327314:R629C	ENSP00000327314:R629C	R	+	1	0	ZNF283	49044478	0.972000	0.33761	0.232000	0.24009	0.453000	0.32348	2.031000	0.41117	0.221000	0.20879	-0.414000	0.06135	CGT		0.393	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		7	95	0	0	0	1	0	7	95					T	44352638	C	T	44352638	3	4	352	1	0	0	0	0	1	0	0	0	17817	536	19	1	1899	1	ZNF283	19	44352638	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	579089	44352638	14776345	42	33441											
ERCC2	2068	broad.mit.edu	37	chr19	45858101	45858101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggttcccatagttccGgatcacagctgcaaggggtc	13	11	1	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:45858101G>A	ENST00000391945.4	-	17	1629	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	518	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|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)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCATAGTTCCGGATCACAGCT	0.587			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1552-1554)Cgg>Tgg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							140	128	132					19																	45858101		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45858101G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1552C>T	19.37:g.45858101G>A	ENSP00000375809:p.Arg518Trp					ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	p.R518W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1629	-		Ovarian(192;0.0728)|all_neural(266;0.112)	518			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1552C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835878	0.71373	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.83755	-1.54;-1.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.949;0.988	D	0.94005	0.7279	10	0.87932	D	0	-32.5782	11.6271	0.51151	0.0:0.0:0.8223:0.1777	.	440;518;211	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	W	468;494;518;440	ENSP00000375809:R518W;ENSP00000375808:R440W	ENSP00000375805:R468W	R	-	1	2	ERCC2	50549941	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.671000	0.61590	2.507000	0.84556	0.561000	0.74099	CGG		0.587	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		31	96	0	0	0	1	0	31	96					A	45858101	G	A	45858101	3	1	352	1	0	0	0	0	1	0	0	0	5213	1115	39	1	758	1	ERCC2	19	45858101	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	1505463	45858101	13270882	43	33442											
TMEM143	55260	broad.mit.edu	37	chr19	48863392	48863392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccacgtgggccgagaaCgcctccaaagccgccttctc	10	16	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:48863392C>T	ENST00000293261.3	-	3	622	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM143_ENST00000436660.2_Silent_p.A102A|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	102					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)		GGGCCGAGAACGCCTCCAAAG	0.592																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(304-306)gcG>gcA		transmembrane protein 143							93	87	89					19																	48863392		2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48863392C>T	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.306G>A	19.37:g.48863392C>T						TMEM143_ENST00000436660.2_Silent_p.A102A|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000541566.1_Intron	p.A102A	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	3	622	-		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)	102					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.306G>A	CCDS12716.1																																																																																				0.592	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		19	43	0	0	0	1	0	19	43					T	48863392	C	T	48863392	2	4	352	1	0	0	0	0	0	0	0	1	16054	523	19	1		1	TMEM143	19	48863392	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	3005291	48863392	10265591	44	33443											
CACNG2	10369	broad.mit.edu	37	chr22	36960617	36960617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgcccacgggggaggcGtccctggagtgtgagggctc	18	10	0	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:36960617G>A	ENST00000300105.6	-	4	1734	c.753C>T	c.(751-753)gaC>gaT	p.D251D	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	251					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGGGAGGCGTCCCTGGAGT	0.687																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(751-753)gaC>gaT		calcium channel, voltage-dependent, gamma subunit 2							62	70	67					22																	36960617		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960617G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.753C>T	22.37:g.36960617G>A							p.D251D	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1734	-			251					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.753C>T	CCDS13931.1																																																																																				0.687	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			11	126	0	0	0	1	0	11	126					A	36960617	G	A	36960617	2	1	352	1	0	0	0	0	0	0	0	1	2557	1136	40	1		1	CACNG2	22	36960617	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		36960617	14343949	45	33444											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621067	41621067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacatctgcgtggcaactGtctgtaaggtgagccagggg	15	9	2	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:41621067G>A	ENST00000216237.5	+	11	1506	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	450					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						CGTGGCAACTGTCTGTAAGGT	0.602																																						ENST00000216237.5																			0				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						c.(1348-1350)Gtc>Atc		l(3)mbt-like 2 (Drosophila)							121	115	117					22																	41621067		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621067G>A	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.1348G>A	22.37:g.41621067G>A	ENSP00000216237:p.Val450Ile						p.V450I	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			11	1506	+			450					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1348G>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528089	0.27299	.	.	ENSG00000100395	ENST00000216237	T	0.50277	0.75	5.52	2.0	0.26442	.	0.153045	0.64402	N	0.000019	T	0.37100	0.0991	L	0.60012	1.86	0.43555	D	0.995864	B;B	0.09022	0.002;0.001	B;B	0.15052	0.004;0.012	T	0.11084	-1.0602	10	0.14252	T	0.57	.	7.4076	0.27000	0.5075:0.0:0.4925:0.0	.	450;450	Q969R5-3;Q969R5	.;LMBL2_HUMAN	I	450	ENSP00000216237:V450I	ENSP00000216237:V450I	V	+	1	0	L3MBTL2	39951013	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.366000	0.52343	0.405000	0.25532	-0.367000	0.07326	GTC		0.602	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		20	29	0	0	0	1	0	20	29					A	41621067	G	A	41621067	3	1	352	1	0	0	0	0	1	0	0	0	8592	1377	48	2	1390	2	L3MBTL2	22	41621067	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	4660450	41621067	9683499	46	33445											
DMD	1756	broad.mit.edu	37	chrX	32834682	32834682	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataattacgagttgattgtcGgacccagctcaggagaatct	10	8	2	2	rs128626235		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:32834682G>A	ENST00000357033.4	-	6	639	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	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	145	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)				GTTGATTGTCGGACCCAGCTC	0.393																																						ENST00000357033.4																			0				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	GRCh37	CD951679|CM940337	DMD	D|M	rs128626235	c.(433-435)Cga>Tga		dystrophin							173	149	157					X																	32834682		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834682G>A	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.433C>T	X.37:g.32834682G>A	ENSP00000354923:p.Arg145*					DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	p.R145*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			6	639	-		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)	145			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.433C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	42	9.514657	0.99192	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.51	4.63	0.57726	.	0.000000	0.32015	U	0.006714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3887	0.74726	0.0:0.1361:0.8639:0.0	.	.	.	.	X	137;141;145;145;22;137	.	ENSP00000288447:R137X	R	-	1	2	DMD	32744603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	1.066000	0.40716	0.600000	0.82982	CGA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		50	80	0	0	0	1	0	50	80					A	32834682	G	A	32834682	4	1	352	1	0	0	0	0	0	1	0	0	4580	1124	39	1	11163	1	DMD	23	32834682	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		32834682	122435878	47	33446											
SLC9A7	84679	broad.mit.edu	37	chrX	46466458	46466458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctggtctcccattcccaGgtctcgctccagcacttcct	6	18	3	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:46466458G>T	ENST00000328306.4	-	17	2132	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	703					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCCATTCCCAGGTCTCGCTCC	0.612																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(2107-2109)Ctg>Atg		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							67	56	60					X																	46466458		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46466458G>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.2107C>A	X.37:g.46466458G>T	ENSP00000330320:p.Leu703Met					SLC9A7_ENST00000464933.1_5'UTR	p.L703M	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			17	2132	-			703					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.2107C>A	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451428	0.63290	.	.	ENSG00000065923	ENST00000328306	T	0.32515	1.45	4.81	4.81	0.61882	.	0.076423	0.53938	D	0.000046	T	0.42359	0.1199	M	0.78456	2.415	0.46521	D	0.999083	D	0.60160	0.987	P	0.49140	0.601	T	0.46020	-0.9221	10	0.59425	D	0.04	.	11.2143	0.48817	0.0992:0.0:0.9008:0.0	.	703	Q96T83	SL9A7_HUMAN	M	703	ENSP00000330320:L703M	ENSP00000330320:L703M	L	-	1	2	SLC9A7	46351402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.748000	0.55142	2.373000	0.80994	0.596000	0.82720	CTG		0.612	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		22	20	1	0	9.57634e-11	1	9.95435e-11	22	20					T	46466458	G	T	46466458	3	4	352	1	0	0	0	0	1	0	0	0	14719	991	35	4	74	4	SLC9A7	23	46466458	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	13631776	46466458	108804102	48	33447											
GLUD2	2747	broad.mit.edu	37	chrX	120181769	120181769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcttcttcgatcgcggCgccagcatcgtggaggacaa	15	11	1	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:120181769C>T	ENST00000328078.1	+	1	308	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	77					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)	p.G77G(1)		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						TCGATCGCGGCGCCAGCATCG	0.642																																						ENST00000328078.1																			1	Substitution - coding silent(1)	p.G77G(1)	large_intestine(1)	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						c.(229-231)ggC>ggT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						87	73	78					X																	120181769		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181769C>T	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.231C>T	X.37:g.120181769C>T							p.G77G	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	308	+			77					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.231C>T	CCDS14603.1																																																																																				0.642	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		46	50	0	0	0	1	0	46	50					T	120181769	C	T	120181769	2	4	352	1	0	0	0	0	0	0	0	1	6477	755	27	1		1	GLUD2	23	120181769	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	73715311	120181769	35088791	49	33448											
UTP14A	10813	broad.mit.edu	37	chrX	129060251	129060251	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagggtcctccaagaaAagataagaatttgccaaatg	9	9	0	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:129060251A>T	ENST00000394422.3	+	14	2007	c.1979A>T	c.(1978-1980)aAa>aTa	p.K660I	UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	660					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						CCTCCAAGAAAAGATAAGAAT	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1978-1980)aAa>aTa		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							75	73	74					X																	129060251		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060251A>T	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.1979A>T	X.37:g.129060251A>T	ENSP00000377944:p.Lys660Ile		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	p.K660I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			14	2007	+			660					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1979A>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054464	0.75960	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	6.08	4.92	0.64577	.	0.136815	0.64402	D	0.000003	T	0.60209	0.2251	M	0.90369	3.11	0.48395	D	0.999645	P;D;P	0.69078	0.812;0.997;0.706	P;D;P	0.72625	0.511;0.978;0.545	T	0.65784	-0.6084	10	0.72032	D	0.01	-24.295	10.7625	0.46272	0.9249:0.0:0.0751:0.0	.	606;608;660	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	I	608;660;606;492	ENSP00000388669:K608I;ENSP00000377944:K660I;ENSP00000360090:K606I;ENSP00000360081:K492I	ENSP00000360081:K492I	K	+	2	0	UTP14A	128887932	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.251000	0.65438	0.900000	0.36469	0.486000	0.48141	AAA		0.453	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		35	60	0	0	0	1	0	35	60					T	129060251	A	T	129060251	3	4	352	1	0	0	0	0	1	0	0	0	17092	14	1	5	2033	5	UTP14A	23	129060251	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08	8878482	129060251	26210309	50	33449											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825938	135825938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgacttccattttccGtcatctcctagagaaacaaa	5	11	2	3	rs144171880	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:135825938G>A	ENST00000250617.6	-	5	1672	c.467C>T	c.(466-468)aCg>aTg	p.T156M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	156					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCCATTTTCCGTCATCTCCTA	0.393																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(466-468)aCg>aTg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6		G	MET/THR	1,3834		0,0,1,1632,570	116	95	102		467	5	1	X	dbSNP_134	102	1,6727		0,1,0,2427,1872	no	missense	ARHGEF6	NM_004840.2	81	0,1,1,4059,2442	AA,AG,A,GG,G		0.0149,0.0261,0.0189	probably-damaging	156/777	135825938	2,10561	2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825938G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.467C>T	X.37:g.135825938G>A	ENSP00000250617:p.Thr156Met					ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M	p.T156M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			5	1672	-	Acute lymphoblastic leukemia(192;0.000127)		156					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.467C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129001	0.77549	2.61E-4	1.49E-4	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.58358	0.34;0.52;0.52;0.43	5.86	4.99	0.66335	Src homology-3 domain (1);	0.140068	0.64402	N	0.000003	T	0.66655	0.2811	L	0.55481	1.735	0.43141	D	0.994896	D;D	0.89917	1.0;1.0	D;D	0.68621	0.95;0.959	T	0.68750	-0.5326	10	0.56958	D	0.05	.	14.1594	0.65436	0.0736:0.0:0.9264:0.0	.	2;156	B7Z3C7;Q15052	.;ARHG6_HUMAN	M	156;2;2;2;2	ENSP00000250617:T156M;ENSP00000359654:T2M;ENSP00000359656:T2M;ENSP00000439483:T2M	ENSP00000250617:T156M	T	-	2	0	ARHGEF6	135653604	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.758000	0.74929	1.212000	0.43366	0.600000	0.82982	ACG		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		39	40	0	0	0	1	0	39	40					A	135825938	G	A	135825938	3	1	352	1	0	0	0	0	1	0	0	0	910	1145	40	1	1935	1	ARHGEF6	23	135825938	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	6765687	135825938	19444622	51	33450											
PDZD4	57595	broad.mit.edu	37	chrX	153069356	153069356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggcctcgcgtcggggCcagctgcacgcagctgtggt	15	15	0	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153069356C>T	ENST00000164640.4	-	8	1953	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	588						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)					CGCGTCGGGGCCAGCTGCACG	0.756																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1762-1764)Gcc>Acc		PDZ domain containing 4							6	6	6					X																	153069356		1973	3866	5839	SO:0001583	missense	57595					cell cortex		g.chrX:153069356C>T	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.1762G>A	X.37:g.153069356C>T	ENSP00000164640:p.Ala588Thr					PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T	p.A588T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1953	-	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)		588					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1762G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	6.933	0.541829	0.13250	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.48201	0.82;0.82;0.82	5.67	1.59	0.23543	.	0.391026	0.27262	N	0.020171	T	0.32734	0.0839	L	0.36672	1.1	0.24879	N	0.992235	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.23655	-1.0182	10	0.56958	D	0.05	-15.4305	6.1182	0.20137	0.2654:0.5771:0.0:0.1575	.	479;594;588;513;492	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	T	588;513;492;479	ENSP00000164640:A588T;ENSP00000377355:A513T;ENSP00000442033:A479T	ENSP00000164640:A588T	A	-	1	0	PDZD4	152722550	0.348000	0.24861	0.459000	0.27081	0.123000	0.20343	-0.293000	0.08320	0.508000	0.28173	0.529000	0.55759	GCC		0.756	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		4	8	0	0	0	1	0	4	8					T	153069356	C	T	153069356	3	4	352	1	0	0	0	0	1	0	0	0	11703	739	26	2	551	2	PDZD4	23	153069356	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	17243418	153069356	2201204	52	33451											
ARHGAP4	393	broad.mit.edu	37	chrX	153173283	153173283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttgttcctgcccaggCggctgctgggcggggccttt	15	13	0	0	rs34514067		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153173283C>T	ENST00000350060.5	-	22	2782	c.2741G>A	c.(2740-2742)cGc>cAc	p.R914H	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R954H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	914					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)					CCTGCCCAGGCGGCTGCTGGG	0.687													C|||	2	0.000529801	0.0	0.0	3775	,	,		10299	0.002		0.0	False		,,,				2504	0.0					ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2860-2862)cGc>cAc		Rho GTPase activating protein 4							22	28	26					X																	153173283		2193	4281	6474	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153173283C>T	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.2741G>A	X.37:g.153173283C>T	ENSP00000203786:p.Arg914His					ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R914H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H	p.R954H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			23	2918	-	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)		914					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.2861G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	c	12.70	2.015262	0.35511	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.11712	2.76;2.76;2.77;2.75;2.77	4.77	2.94	0.34122	.	0.460095	0.15565	N	0.255736	T	0.06096	0.0158	L	0.27053	0.805	0.09310	N	1	P;B	0.35793	0.521;0.349	B;B	0.28916	0.096;0.096	T	0.34825	-0.9813	10	0.39692	T	0.17	.	4.4534	0.11631	0.1563:0.6042:0.1493:0.0902	rs34514067	954;914	Q86UY3;P98171	.;RHG04_HUMAN	H	736;954;914;893;891	ENSP00000377322:R736H;ENSP00000359045:R954H;ENSP00000203786:R914H;ENSP00000359033:R893H;ENSP00000444169:R891H	ENSP00000203786:R914H	R	-	2	0	ARHGAP4	152826477	0.221000	0.23642	0.000000	0.03702	0.057000	0.15508	1.154000	0.31688	0.270000	0.21984	-0.373000	0.07131	CGC		0.687	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		35	19	0	0	0	1	0	35	19					T	153173283	C	T	153173283	3	4	352	1	0	0	0	0	1	0	0	0	885	768	27	1	103	1	ARHGAP4	23	153173283	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	103927	153173283	2097277	53	33452											
HCFC1	3054	broad.mit.edu	37	chrX	153217982	153217982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccatgacggcctgctgcGcggcctggagcaccgcctgg	14	17	0	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153217982G>A	ENST00000310441.7	-	19	5891	c.4925C>T	c.(4924-4926)gCg>gTg	p.A1642V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1642					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)					GGCCTGCTGCGCGGCCTGGAG	0.716																																						ENST00000310441.7																			0				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						c.(4924-4926)gCg>gTg		host cell factor C1 (VP16-accessory protein)							14	16	15					X																	153217982		1997	4111	6108	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153217982G>A		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.4925C>T	X.37:g.153217982G>A	ENSP00000309555:p.Ala1642Val					HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V	p.A1642V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			19	5891	-	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)		1642					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.4925C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105296	0.77096	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.11930	2.78;2.73;2.8	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	L	0.32530	0.975	0.49299	D	0.999775	D	0.76494	0.999	D	0.73380	0.98	T	0.01839	-1.1263	10	0.87932	D	0	.	17.16	0.86801	0.0:0.0:1.0:0.0	.	1642	P51610	HCFC1_HUMAN	V	1642;1686;1573	ENSP00000309555:A1642V;ENSP00000359001:A1686V;ENSP00000346174:A1573V	ENSP00000309555:A1642V	A	-	2	0	HCFC1	152871176	1.000000	0.71417	0.075000	0.20258	0.358000	0.29455	8.466000	0.90387	2.317000	0.78254	0.513000	0.50165	GCG		0.716	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		16	16	0	0	0	1	0	16	16					A	153217982	G	A	153217982	3	1	352	1	0	0	0	0	1	0	0	0	6991	1087	38	1	1214	1	HCFC1	23	153217982	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	44699	153217982	2052578	54	33453											
NEB	4703	broad.mit.edu	37	chr2	152409936	152409936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtagatcataagcatgCttggcatggaggatttcagg	12	7	3	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:152409936C>T	ENST00000172853.10	-	99	14751	c.14604G>A	c.(14602-14604)aaG>aaA	p.K4868K	NEB_ENST00000409198.1_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000397345.3_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000604864.1_Silent_p.K6569K			P20929	NEBU_HUMAN	nebulin	4868					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)		CATAAGCATGCTTGGCATGGA	0.398																																						ENST00000397345.3																			0				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						c.(19705-19707)aaG>aaA		nebulin							159	153	155					2																	152409936		1979	4157	6136	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152409936C>T	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.14604G>A	2.37:g.152409936C>T						NEB_ENST00000604864.1_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000172853.10_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000409198.1_Silent_p.K4868K	p.K6569K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	127	19909	-			4868			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.19707G>A																																																																																					0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		26	48	0	0	0	1	0	26	48					T	152409936	C	T	152409936	2	4	353	1	0	0	0	0	0	0	0	1	10302	796	28	2		2	NEB	2	152409936	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		152409936	90789437	1	33454											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	35	0	0	0	1	0	20	35					T	209113112	C	T	209113112	3	4	353	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	56703176	209113112	34086261	2	33455											
TREX1	11277	broad.mit.edu	37	chr3	48508260	48508261	+	Frame_Shift_Del	DEL	TG	TG	-													tgtggtagacaagctctcccTgtgtgtggctccggggaagg							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:48508260_48508261delTG	ENST00000422277.2	+	1	1032_1033	c.371_372delTG	c.(370-372)ctgfs	p.L124fs	TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000296443.9_Frame_Shift_Del_p.L69fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	124					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGCTCTCCCTGTGTGTGGCTC	0.634																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(205-207)cfs		three prime repair exonuclease 1																																				SO:0001589	frameshift_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508260_48508261delTG	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.371_372delTG	3.37:g.48508266_48508267delTG	ENSP00000390478:p.Leu124fs					TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|TREX1_ENST00000422277.2_Frame_Shift_Del_p.L124fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000456089.1_Intron	p.L69fs			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1093_1094	+			124					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Del	DEL	ENST00000422277.2	37	c.206_207delTG	CCDS43086.1																																																																																				0.634	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		67	146						67	146	---	---	---	---	-	48508261	TG	-	48508260	7	5	353	1	0	1	0	1	0	0	0	0	16473	1580	55	0	373	0	TREX1	3	48508260	Frame_Shift_Del	DEL	TG	TCGA-P5-A5ET-01A-11D-A27K-08		48508260	149514170	3	33456											
ZBTB20	26137	broad.mit.edu	37	chr3	114058232	114058234	+	In_Frame_Del	DEL	AGA	AGA	-													gataaggtaatcctttaaggAgaaggagcgccaacagatgc							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:114058232_114058234delAGA	ENST00000474710.1	-	5	2022_2024	c.1844_1846delTCT	c.(1843-1848)ttctcc>tcc	p.F615del	ZBTB20_ENST00000462705.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.F542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.F542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.F542del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	615						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTTTAAGGAGAAGGAGCGCCA	0.502																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1624-1629)tcc>t		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058232_114058234delAGA	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1844_1846delTCT	3.37:g.114058232_114058234delAGA	ENSP00000419153:p.Phe615del					ZBTB20_ENST00000393785.2_In_Frame_Del_p.FS542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.FS542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.FS615del	p.FS542del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2446_2448	-			615					Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.1625_1627delTCT	CCDS54626.1																																																																																				0.502	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		28	68						28	68	---	---	---	---	-	114058234	AGA	-	114058232	7	5	353	1	0	1	0	1	0	0	0	0	17526	304	11	0	383	0	ZBTB20	3	114058232	In_Frame_Del	DEL	AGA	TCGA-P5-A5ET-01A-11D-A27K-08	65549972	114058232	83964198	4	33457											
MBD4	8930	broad.mit.edu	37	chr3	129155397	129155399	+	In_Frame_Del	DEL	CTT	CTT	-													atgttctttcctttccacaaCttctacttttgttccgattt							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:129155397_129155399delCTT	ENST00000249910.1	-	3	1263_1265	c.1088_1090delAAG	c.(1087-1092)gaagtt>gtt	p.E363del	MBD4_ENST00000507208.1_In_Frame_Del_p.E363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000429544.2_In_Frame_Del_p.E363del|MBD4_ENST00000503197.1_In_Frame_Del_p.E363del|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	363					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(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTTCCACAACTTCTACTTTTGT	0.384								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1087-1092)gtt>g	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4																																				SO:0001651	inframe_deletion	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155397_129155399delCTT	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1088_1090delAAG	3.37:g.129155397_129155399delCTT	ENSP00000249910:p.Glu363del					MBD4_ENST00000503197.1_In_Frame_Del_p.EV363del|MBD4_ENST00000249910.1_In_Frame_Del_p.EV363del|MBD4_ENST00000507208.1_In_Frame_Del_p.EV363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron	p.EV363del	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	1283_1285	-			363					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	In_Frame_Del	DEL	ENST00000249910.1	37	c.1088_1090delAAG	CCDS3058.1																																																																																				0.384	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		24	53						24	53	---	---	---	---	-	129155399	CTT	-	129155397	7	5	353	1	0	1	0	1	0	0	0	0	9346	565	20	0	676	0	MBD4	3	129155397	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08	15097165	129155397	68867033	5	33458											
EIF4G1	1981	broad.mit.edu	37	chr3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggacatagcccggcggCgctctttagggaatatcaag	13	11	2	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:184042726C>T	ENST00000346169.2	+	18	2951	c.2680C>T	c.(2680-2682)Cgc>Tgc	p.R894C	EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R895C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	894	eIF3/EIF4A-binding.			R -> C (in Ref. 1; BAA02185). {ECO:0000305}.	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)			AGCCCGGCGGCGCTCTTTAGG	0.478																																						ENST00000342981.4																			0				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						c.(2683-2685)Cgc>Tgc		eukaryotic translation initiation factor 4 gamma, 1							67	77	74					3																	184042726		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184042726C>T	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.2680C>T	3.37:g.184042726C>T	ENSP00000316879:p.Arg894Cys					EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R894C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF2B5_ENST00000444495.1_Intron	p.R895C	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	3097	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		894			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.2683C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121871	0.77436	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;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;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.65	5.65	0.86999	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.89904	3.07	0.80722	D	1	P;P;P;P	0.39940	0.696;0.696;0.696;0.696	B;B;B;B	0.40940	0.344;0.344;0.344;0.344	T	0.61178	-0.7115	10	0.72032	D	0.01	-8.9972	19.7312	0.96182	0.0:1.0:0.0:0.0	.	901;895;894;901	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	C	894;854;807;901;835;730;901;808;895;894;901;855;730;731;699;698	ENSP00000316879:R894C;ENSP00000391935:R854C;ENSP00000376320:R807C;ENSP00000371767:R901C;ENSP00000403269:R835C;ENSP00000317600:R730C;ENSP00000338020:R901C;ENSP00000407682:R808C;ENSP00000343450:R895C;ENSP00000323737:R894C;ENSP00000416255:R901C;ENSP00000395974:R855C;ENSP00000398145:R730C;ENSP00000399858:R731C;ENSP00000411826:R699C;ENSP00000404754:R698C	ENSP00000323737:R894C	R	+	1	0	EIF4G1	185525420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.686000	0.61700	2.677000	0.91161	0.561000	0.74099	CGC		0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		4	140	0	0	0	1	0	4	140					T	184042726	C	T	184042726	3	4	353	1	0	0	0	0	1	0	0	0	5036	768	27	1	2742	1	EIF4G1	3	184042726	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	54887329	184042726	13979704	6	33459											
IL6ST	3572	broad.mit.edu	37	chr5	55259245	55259245	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtattataacactctTaatacttgggttggtccatg	7	6	1	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr5:55259245T>G	ENST00000381298.2	-	7	1060	c.748A>C	c.(748-750)Aag>Cag	p.K250Q	IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q|IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q	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	250	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				ATAACACTCTTAATACTTGGG	0.343			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				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						c.(748-750)Aag>Cag		interleukin 6 signal transducer (gp130, oncostatin M receptor)							91	93	93					5																	55259245		2203	4298	6501	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55259245T>G	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.748A>C	5.37:g.55259245T>G	ENSP00000370698:p.Lys250Gln					IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q	p.K250Q	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			7	1060	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	250			Fibronectin type-III 2.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.748A>C	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	2.612	-0.290469	0.05568	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.91	-7.41	0.01392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.497503	0.22605	N	0.057918	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.28291	0.206;0.0;0.001;0.0	B;B;B;B	0.22601	0.04;0.001;0.001;0.002	T	0.32025	-0.9922	10	0.13108	T	0.6	.	5.7128	0.17945	0.0919:0.3851:0.3788:0.1441	.	84;250;250;250	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	Q	250;250;250;250;250;84;250;250	ENSP00000370698:K250Q;ENSP00000338799:K250Q;ENSP00000370694:K250Q;ENSP00000370687:K250Q;ENSP00000444456:K250Q;ENSP00000370693:K84Q;ENSP00000435399:K250Q	ENSP00000338799:K250Q	K	-	1	0	IL6ST	55295002	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.935000	0.01550	-1.237000	0.02539	0.533000	0.62120	AAG		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		5	38	0	0	0	1	0	5	38					G	55259245	T	G	55259245	3	3	353	1	0	0	0	0	1	0	0	0	7703	1763	61	5	2052	5	IL6ST	5	55259245	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		55259245	125656015	7	33460											
DST	667	broad.mit.edu	37	chr6	56336894	56336896	+	In_Frame_Del	DEL	CTT	CTT	-													aggcatcattgagtttcctcCttctttccaacgccaggagc					rs192453671	byFrequency	TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:56336894_56336896delCTT	ENST00000361203.3	-	89	21166_21168	c.21159_21161delAAG	c.(21157-21162)agaagg>agg	p.7053_7054RR>R	DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_In_Frame_Del_p.4750_4751RR>R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_In_Frame_Del_p.7164_7165RR>R|DST_ENST00000446842.2_In_Frame_Del_p.6838_6839RR>R|DST_ENST00000370754.5_In_Frame_Del_p.7342_7343RR>R|DST_ENST00000370788.2_In_Frame_Del_p.4967_4968RR>R			Q03001	DYST_HUMAN	dystonin	7162					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)			GAGTTTCCTCCTTCTTTCCAACG	0.453																																						ENST00000370754.5																			0				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						c.(22024-22029)agg>ag		dystonin																																				SO:0001651	inframe_deletion	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56336894_56336896delCTT	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.21159_21161delAAG	6.37:g.56336897_56336899delCTT	ENSP00000354508:p.Arg7055del					DST_ENST00000244364.6_In_Frame_Del_p.RR4750del|DST_ENST00000370788.2_In_Frame_Del_p.RR4967del|DST_ENST00000361203.3_In_Frame_Del_p.RR7053del|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_In_Frame_Del_p.RR6838del|DST_ENST00000370769.4_In_Frame_Del_p.RR7164del|DST_ENST00000421834.2_Intron	p.RR7342del			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		94	22025_22027	-	Lung NSC(77;0.103)		7162			GAR.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	In_Frame_Del	DEL	ENST00000361203.3	37	c.22026_22028delAAG																																																																																					0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		47	103						47	103	---	---	---	---	-	56336896	CTT	-	56336894	7	5	353	1	0	1	0	1	0	0	0	0	4783	681	24	0	1303	0	DST	6	56336894	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08		56336894	114778173	8	33461											
MAP3K4	4216	broad.mit.edu	37	chr6	161528964	161528964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaggtgtacacctgcaTcagcgtcgacaccggggagc	15	11	1	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:161528964T>G	ENST00000392142.4	+	21	4230	c.4082T>G	c.(4081-4083)aTc>aGc	p.I1361S	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TACACCTGCATCAGCGTCGAC	0.552																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4081-4083)aTc>aGc		mitogen-activated protein kinase kinase kinase 4							102	87	93					6																	161528964		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161528964T>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4082T>G	6.37:g.161528964T>G	ENSP00000375986:p.Ile1361Ser					MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S	p.I1361S	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	21	4230	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1361			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4082T>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617938	0.87359	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	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);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.31207	0.915	0.80722	D	1	D;D;D;D	0.89917	0.995;0.996;0.999;1.0	D;P;D;D	0.87578	0.98;0.872;0.996;0.998	T	0.15263	-1.0443	10	0.87932	D	0	-24.8559	14.664	0.68893	0.0:0.0:0.0:1.0	.	1357;297;1311;1361	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	S	1311;1361;1311;1357;1307	ENSP00000355886:I1311S;ENSP00000375986:I1361S;ENSP00000355887:I1357S;ENSP00000297332:I1307S	ENSP00000297332:I1307S	I	+	2	0	MAP3K4	161448954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	1.911000	0.55334	0.459000	0.35465	ATC		0.552	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			6	71	0	0	0	1	0	6	71					G	161528964	T	G	161528964	3	3	353	1	0	0	0	0	1	0	0	0	9252	1435	50	5	4164	5	MAP3K4	6	161528964	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08	105192070	161528964	9586103	9	33462											
DLL1	28514	broad.mit.edu	37	chr6	170594119	170594119	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggggctgtctgagcaccgAcccccgttaaagcaagggcc	13	14	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:170594119A>C	ENST00000366756.3	-	8	1470	c.1137T>G	c.(1135-1137)ggT>ggG	p.G379G		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	379	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGCACCGACCCCCGTTAA	0.577																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1135-1137)ggT>ggG		delta-like 1 (Drosophila)							70	68	69					6																	170594119		2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594119A>C	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1137T>G	6.37:g.170594119A>C							p.G379G	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	8	1470	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	379			EGF-like 5.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1137T>G	CCDS5313.1																																																																																				0.577	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			6	89	0	0	0	1	0	6	89					C	170594119	A	C	170594119	2	2	353	1	0	0	0	0	0	0	0	1	4566	262	10	5		5	DLL1	6	170594119	Silent	SNP	A	TCGA-P5-A5ET-01A-11D-A27K-08	9065155	170594119	520948	10	33463											
ABCB1	5243	broad.mit.edu	37	chr7	87170760	87170762	+	In_Frame_Del	DEL	ATC	ATC	-													ttctgtcgttttgtttcaggAtcatcaattcttgtaaaaac							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:87170760_87170762delATC	ENST00000265724.3	-	19	2647_2649	c.2230_2232delGAT	c.(2230-2232)gatdel	p.D744del	ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	744	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)	TTGTTTCAGGATCATCAATTCTT	0.355																																						ENST00000265724.3																			0				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						c.(2230-2232)del		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)																																			SO:0001651	inframe_deletion	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87170760_87170762delATC	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.2230_2232delGAT	7.37:g.87170763_87170765delATC	ENSP00000265724:p.Asp744del					ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del	p.D744del	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			19	2647_2649	-	Esophageal squamous(14;0.00164)		744			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	In_Frame_Del	DEL	ENST00000265724.3	37	c.2230_2232delGAT	CCDS5608.1																																																																																				0.355	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	79						10	79	---	---	---	---	-	87170762	ATC	-	87170760	7	5	353	1	0	1	0	1	0	0	0	0	40	330	12	0	1654	0	ABCB1	7	87170760	In_Frame_Del	DEL	ATC	TCGA-P5-A5ET-01A-11D-A27K-08		87170760	71967903	11	33464											
HBP1	26959	broad.mit.edu	37	chr7	106836571	106836571	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatacagagttgaatatactCagatgtatccagggaaagat	9	5	1	4			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:106836571C>G	ENST00000222574.4	+	9	1546	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E|CTA-363E19.2_ENST00000607036.1_RNA	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	454					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGAATATACTCAGATGTATCC	0.363																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(1360-1362)Cag>Gag		HMG-box transcription factor 1							47	48	48					7																	106836571		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106836571C>G	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1360C>G	7.37:g.106836571C>G	ENSP00000222574:p.Gln454Glu					HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E|HBP1_ENST00000461963.1_3'UTR	p.Q454E	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			9	1546	+			454					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1360C>G	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327419	0.81690	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-3.17	5.85	5.85	0.93711	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.889;0.992	D;P;P	0.71414	0.973;0.534;0.846	D	0.98715	1.0706	10	0.66056	D	0.02	-12.7426	20.1576	0.98120	0.0:1.0:0.0:0.0	.	464;454;454	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	E	454;454;454;446	ENSP00000420500:Q454E;ENSP00000222574:Q454E;ENSP00000418738:Q454E;ENSP00000418017:Q446E	ENSP00000222574:Q454E	Q	+	1	0	HBP1	106623807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.875000	0.69660	2.773000	0.95371	0.650000	0.86243	CAG		0.363	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		20	31	0	0	0	1	0	20	31					G	106836571	C	G	106836571	3	3	353	1	0	0	0	0	1	0	0	0	6985	827	29	4	1390	4	HBP1	7	106836571	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	19665811	106836571	52302092	12	33465											
DOK2	9046	broad.mit.edu	37	chr8	21769438	21769438	+	Frame_Shift_Del	DEL	T	T	-													ctgcgctgctgtacaattcaTtttcctccatgcagggccgg							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:21769438delT	ENST00000276420.4	-	3	665	c.407delA	c.(406-408)aatfs	p.N136fs	DOK2_ENST00000544659.1_Intron	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	136					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GTACAATTCATTTTCCTCCAT	0.667																																						ENST00000276420.4																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(406-408)atfs		docking protein 2, 56kDa							68	62	64					8																	21769438		2189	4281	6470	SO:0001589	frameshift_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21769438delT	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.407delA	8.37:g.21769438delT	ENSP00000276420:p.Asn136fs					DOK2_ENST00000544659.1_Intron	p.N136fs	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	3	665	-			136					Q8N5A4	Frame_Shift_Del	DEL	ENST00000276420.4	37	c.407delA	CCDS6016.1																																																																																				0.667	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		2	4						2	4	---	---	---	---	-	21769438	T	-	21769438	7	5	353	1	0	1	0	1	0	0	0	0	4697	1493	52	0	843	0	DOK2	8	21769438	Frame_Shift_Del	DEL	T	TCGA-P5-A5ET-01A-11D-A27K-08		21769438	124594584	13	33466											
EFR3A	23167	broad.mit.edu	37	chr8	132968053	132968055	+	In_Frame_Del	DEL	AAG	AAG	-													ttctccttctgcaactgacaAagaagagaatcctgctgtgc					rs138896182		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:132968053_132968055delAAG	ENST00000254624.5	+	7	902_904	c.677_679delAAG	c.(676-681)aaagaa>aaa	p.E228del	EFR3A_ENST00000334503.4_In_Frame_Del_p.E228del|EFR3A_ENST00000519656.1_In_Frame_Del_p.E192del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	228						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAACTGACAAAGAAGAGAATCC	0.384																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(676-681)aaa>a		EFR3 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	23167					plasma membrane	binding	g.chr8:132968053_132968055delAAG	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.677_679delAAG	8.37:g.132968056_132968058delAAG	ENSP00000254624:p.Glu228del					EFR3A_ENST00000334503.4_In_Frame_Del_p.KE226del|EFR3A_ENST00000519656.1_In_Frame_Del_p.KE190del	p.KE226del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		7	902_904	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		226					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	In_Frame_Del	DEL	ENST00000254624.5	37	c.677_679delAAG	CCDS34942.2																																																																																				0.384	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		35	107						35	107	---	---	---	---	-	132968055	AAG	-	132968053	7	5	353	1	0	1	0	1	0	0	0	0	4958	14	1	0	703	0	EFR3A	8	132968053	In_Frame_Del	DEL	AAG	TCGA-P5-A5ET-01A-11D-A27K-08	111198615	132968053	13395969	14	33467											
MAPK15	225689	broad.mit.edu	37	chr8	144803509	144803509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagccgaccctcagctgCcttctaggacacctgtgcag	10	16	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:144803509C>T	ENST00000338033.4	+	11	1251	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	378					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCAGCTGCCTTCTAGGAC	0.672																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(1132-1134)Cct>Tct		mitogen-activated protein kinase 15							53	70	64					8																	144803509		1985	4146	6131	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803509C>T	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1132C>T	8.37:g.144803509C>T	ENSP00000337691:p.Pro378Ser						p.P378S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		11	1251	+	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)		378					Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.1132C>T	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	6.621	0.482935	0.12581	.	.	ENSG00000181085	ENST00000338033	T	0.73789	-0.78	2.91	-5.77	0.02369	.	1.843550	0.02743	N	0.116520	T	0.42314	0.1197	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51060	-0.8753	10	0.02654	T	1	-20.3103	1.2113	0.01905	0.1525:0.2644:0.1505:0.4325	.	378	Q8TD08	MK15_HUMAN	S	378	ENSP00000337691:P378S	ENSP00000337691:P378S	P	+	1	0	MAPK15	144875497	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.533000	0.00219	-1.763000	0.01307	-0.444000	0.05651	CCT		0.672	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		63	95	0	0	0	1	0	63	95					T	144803509	C	T	144803509	3	4	353	1	0	0	0	0	1	0	0	0	9277	739	26	2	1174	2	MAPK15	8	144803509	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	11835456	144803509	1560513	15	33468											
NOTCH1	4851	broad.mit.edu	37	chr9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-													agcaggcggcgctggcacagTcatcaatgttctcgctgcag							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; 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)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(1009-1014)gac>ga		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413129_139413131delTCA	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.1011_1013delTGA	9.37:g.139413132_139413134delTCA	ENSP00000277541:p.Asp338del	HNSCC(8;0.001)					p.DD337del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1086_1088	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	337			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1011_1013delTGA	CCDS43905.1																																																																																				0.631	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	46						14	46	---	---	---	---	-	139413131	TCA	-	139413129	7	5	353	1	0	1	0	1	0	0	0	0	10547	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-P5-A5ET-01A-11D-A27K-08		139413129	1800302	16	33469											
PRKCQ	5588	broad.mit.edu	37	chr10	6472890	6472890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcctcttctcaggttctCgcacgaagagctgaaaggga	11	12	3	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:6472890C>T	ENST00000263125.5	-	17	1946	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTCAGGTTCTCGCACGAAGAG	0.587																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1846-1848)cGa>cAa		protein kinase C, theta							63	56	58					10																	6472890		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6472890C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1847G>A	10.37:g.6472890C>T	ENSP00000263125:p.Arg616Gln					PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q	p.R616Q	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			17	1946	-			616			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1847G>A	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.687945|4.687945	0.88639|0.88639	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.58797	.|0.31;0.31;0.31	5.23|5.23	4.32|4.32	0.51571|0.51571	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.046988	.|0.85682	.|D	.|0.000000	T|T	0.67692|0.67692	0.2920|0.2920	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.957;0.991;1.0;0.968	T|T	0.70421|0.70421	-0.4876|-0.4876	5|10	.|0.87932	.|D	.|0	.|.	12.9862|12.9862	0.58594|0.58594	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	.|491;388;553;616	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	K|Q	389|616;553;491	.|ENSP00000263125:R616Q;ENSP00000380361:R553Q;ENSP00000441752:R491Q	.|ENSP00000263125:R616Q	E|R	-|-	1|2	0|0	PRKCQ|PRKCQ	6512896|6512896	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.848000|0.848000	0.48234|0.48234	7.275000|7.275000	0.78548|0.78548	2.434000|2.434000	0.82447|0.82447	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.587	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		20	36	0	0	0	1	0	20	36					T	6472890	C	T	6472890	3	4	353	1	0	0	0	0	1	0	0	0	12515	884	31	1	281	1	PRKCQ	10	6472890	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		6472890	129061857	17	33470											
JMJD1C	221037	broad.mit.edu	37	chr10	64968101	64968101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgaaacttctttggatgGgtatgatcttggtggttcat	11	4	3	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:64968101G>T	ENST00000399262.2	-	10	3546	c.3328C>A	c.(3328-3330)Cca>Aca	p.P1110T	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1110					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)					TCTTTGGATGGGTATGATCTT	0.383																																						ENST00000399262.2																			0				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						c.(3328-3330)Cca>Aca		jumonji domain containing 1C							176	167	170					10																	64968101		1887	4108	5995	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968101G>T	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.3328C>A	10.37:g.64968101G>T	ENSP00000382204:p.Pro1110Thr					JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T	p.P1110T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3546	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1110					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3328C>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552758	0.45487	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.60040	0.56;0.22;2.09;0.56	5.59	5.59	0.84812	.	0.055816	0.64402	D	0.000001	T	0.53753	0.1816	L	0.56769	1.78	0.38780	D	0.954745	P;P;P	0.51057	0.941;0.941;0.879	B;B;B	0.43478	0.421;0.421;0.34	T	0.60969	-0.7157	10	0.49607	T	0.09	-12.4528	9.5203	0.39131	0.0747:0.1439:0.7814:0.0	.	651;1110;928	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	T	1110;891;891;928	ENSP00000382204:P1110T;ENSP00000384990:P891T;ENSP00000382195:P891T;ENSP00000444682:P928T	ENSP00000382195:P891T	P	-	1	0	JMJD1C	64638107	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.538000	0.67193	2.621000	0.88768	0.563000	0.77884	CCA		0.383	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		4	185	1	0	0.150653	1	0.150653	4	185					T	64968101	G	T	64968101	3	4	353	1	0	0	0	0	1	0	0	0	7950	1232	43	4	4362	4	JMJD1C	10	64968101	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	58495211	64968101	70566646	18	33471											
ATG2A	23130	broad.mit.edu	37	chr11	64665787	64665787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggagacagcactcaggCccacccaggttggtagtggg	15	12	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:64665787C>T	ENST00000377264.3	-	33	4831	c.4719G>A	c.(4717-4719)ggG>ggA	p.G1573G	ATG2A_ENST00000421419.2_Silent_p.G1575G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1573					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCACTCAGGCCCACCCAGGT	0.637											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4723-4725)ggG>ggA		autophagy related 2A							54	55	55					11																	64665787		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64665787C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4719G>A	11.37:g.64665787C>T			OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_ENST00000377264.3_Silent_p.G1573G	p.G1575G			Q2TAZ0	ATG2A_HUMAN			33	4839	-			1573					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.4725G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	2.958	-0.215266	0.06101	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.37	-4.5	0.03493	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	.	7.8227	0.29296	0.0:0.169:0.4953:0.3357	.	.	.	.	T	1377	.	.	A	-	1	0	ATG2A	64422363	0.000000	0.05858	0.010000	0.14722	0.444000	0.32077	-3.183000	0.00568	-0.626000	0.05596	-0.265000	0.10407	GCC		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		15	16	0	0	0	1	0	15	16					T	64665787	C	T	64665787	2	4	353	1	0	0	0	0	0	0	0	1	1093	726	26	2		2	ATG2A	11	64665787	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		64665787	70340729	19	33472											
SPTBN2	6712	broad.mit.edu	37	chr11	66454995	66454995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctgggcctcgaggcgGcagggtggcagcatgggctg	20	10	1	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:66454995G>A	ENST00000533211.1	-	35	6956	c.6625C>T	c.(6625-6627)Ccg>Tcg	p.P2209S	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2209					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						CCTCGAGGCGGCAGGGTGGCA	0.672																																						ENST00000533211.1																			0				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						c.(6625-6627)Ccg>Tcg		spectrin, beta, non-erythrocytic 2							50	56	54					11																	66454995		2200	4294	6494	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454995G>A	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.6625C>T	11.37:g.66454995G>A	ENSP00000432568:p.Pro2209Ser					SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S	p.P2209S			O15020	SPTN2_HUMAN			35	6956	-			2209					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6625C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196807	0.38806	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.72394	-0.65;-0.65;-0.58	4.92	4.01	0.46588	.	0.154096	0.42964	N	0.000633	T	0.68348	0.2991	N	0.19112	0.55	0.58432	D	0.999999	D	0.60160	0.987	P	0.61722	0.893	T	0.65269	-0.6209	10	0.26408	T	0.33	.	12.0771	0.53649	0.0843:0.0:0.9157:0.0	.	2209	O15020	SPTN2_HUMAN	S	2209;2209;2209;753	ENSP00000432568:P2209S;ENSP00000311489:P2209S;ENSP00000433593:P2209S	ENSP00000311489:P2209S	P	-	1	0	SPTBN2	66211571	1.000000	0.71417	0.984000	0.44739	0.204000	0.24138	7.473000	0.81007	1.313000	0.45069	0.655000	0.94253	CCG		0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	120	0	0	0	1	0	5	120					A	66454995	G	A	66454995	3	1	353	1	0	0	0	0	1	0	0	0	15119	1203	42	2	563	2	SPTBN2	11	66454995	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1789208	66454995	68551521	20	33473											
TCIRG1	10312	broad.mit.edu	37	chr11	67816587	67816587	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggctgctgctggagacgctGccggagctcaccttcctgct	13	15	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:67816587G>T	ENST00000265686.3	+	15	1821	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Silent_p.L355L|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	571					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|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)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGAGACGCTGCCGGAGCTCA	0.667																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1711-1713)ctG>ctT		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							95	88	91					11																	67816587		2200	4294	6494	SO:0001819	synonymous_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816587G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1713G>T	11.37:g.67816587G>T						TCIRG1_ENST00000532635.1_Silent_p.L355L	p.L571L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			15	1821	+			571					O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	c.1713G>T	CCDS8177.1																																																																																				0.667	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		5	185	1	0	0.00116845	1	0.00119766	5	185					T	67816587	G	T	67816587	2	4	353	1	0	0	0	0	0	0	0	1	15700	1306	46	4		4	TCIRG1	11	67816587	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1361592	67816587	67189929	21	33474											
ARHGEF12	23365	broad.mit.edu	37	chr11	120312904	120312904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatcagttctttctagatcGatcagcagtaagttgccaag	8	9	5	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:120312904G>T	ENST00000397843.2	+	15	1461	c.1295G>T	c.(1294-1296)cGa>cTa	p.R432L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	432	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)		TTTCTAGATCGATCAGCAGTA	0.388			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(1294-1296)cGa>cTa		Rho guanine nucleotide exchange factor (GEF) 12							110	94	99					11																	120312904		1883	4123	6006	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120312904G>T	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.1295G>T	11.37:g.120312904G>T	ENSP00000380942:p.Arg432Leu					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	p.R432L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	15	1461	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	432			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1295G>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848250	0.91277	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.83755	-1.76;-1.76;-1.76	5.45	5.45	0.79879	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.40302	N	0.001125	D	0.87728	0.6250	M	0.63428	1.95	0.48341	D	0.99963	D;P;P	0.65815	0.995;0.929;0.942	P;P;P	0.61201	0.885;0.682;0.787	D	0.87952	0.2724	10	0.62326	D	0.03	-8.2586	12.2076	0.54361	0.0787:0.0:0.9213:0.0	.	329;413;432	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	432;413;329	ENSP00000380942:R432L;ENSP00000349056:R413L;ENSP00000432984:R329L	ENSP00000349056:R413L	R	+	2	0	ARHGEF12	119818114	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.063000	0.76714	2.706000	0.92434	0.650000	0.86243	CGA		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		10	16	1	0	0.000673444	1	0.00070798	10	16					T	120312904	G	T	120312904	3	4	353	1	0	0	0	0	1	0	0	0	897	1058	37	4	1353	4	ARHGEF12	11	120312904	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	52496317	120312904	14693612	22	33475											
LDHB	3945	broad.mit.edu	37	chr12	21797028	21797028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactacaatcttagaattggCagtcacagaataatctttaa	5	8	3	2	rs145369309		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:21797028C>T	ENST00000396076.1	-	4	594	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	LDHB_ENST00000350669.1_Missense_Mutation_p.A88T	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	88					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TTAGAATTGGCAGTCACAGAA	0.373																																						ENST00000396076.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						c.(262-264)Gcc>Acc		lactate dehydrogenase B	NADH(DB00157)	C	THR/ALA,THR/ALA	1,4405		0,1,2202	64	59	61		262,262	5.6	1	12	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	LDHB	NM_001174097.1,NM_002300.6	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	88/335,88/335	21797028	1,13005	2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21797028C>T		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.262G>A	12.37:g.21797028C>T	ENSP00000379386:p.Ala88Thr					LDHB_ENST00000350669.1_Missense_Mutation_p.A88T	p.A88T	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN			4	594	-			88						Missense_Mutation	SNP	ENST00000396076.1	37	c.262G>A	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937175	0.92458	2.27E-4	0.0	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075;ENST00000450584;ENST00000539782	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.61	5.61	0.85477	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92577	0.7642	M	0.77616	2.38	0.80722	D	1	P	0.44816	0.844	P	0.49683	0.619	D	0.92975	0.6401	10	0.66056	D	0.02	.	19.6465	0.95778	0.0:1.0:0.0:0.0	.	88	P07195	LDHB_HUMAN	T	88	ENSP00000379386:A88T;ENSP00000229319:A88T;ENSP00000379385:A88T;ENSP00000398015:A88T;ENSP00000442680:A88T	ENSP00000229319:A88T	A	-	1	0	LDHB	21688295	1.000000	0.71417	0.967000	0.41034	0.775000	0.43874	5.952000	0.70282	2.644000	0.89710	0.508000	0.49915	GCC		0.373	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		3	49	0	0	0	1	0	3	49					T	21797028	C	T	21797028	3	4	353	1	0	0	0	0	1	0	0	0	8701	710	25	2	762	2	LDHB	12	21797028	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		21797028	112054867	23	33476											
EP400	57634	broad.mit.edu	37	chr12	132547108	132547108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcagcaGcagcagcagcagcagcagca	11	14	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:132547108G>A	ENST00000333577.4	+	48	8413	c.8304G>A	c.(8302-8304)caG>caA	p.Q2768Q	EP400_ENST00000332482.4_Silent_p.Q2695Q|EP400_ENST00000389562.2_Silent_p.Q2731Q|EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000389561.2_Silent_p.Q2732Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2768	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.587																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8302-8304)caG>caA		E1A binding protein p400							22	26	25					12																	132547108		2047	3981	6028	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547108G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8304G>A	12.37:g.132547108G>A						EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000389562.2_Silent_p.Q2731Q|EP400_ENST00000389561.2_Silent_p.Q2732Q|EP400_ENST00000332482.4_Silent_p.Q2695Q	p.Q2768Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8413	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2768			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8304G>A																																																																																					0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	67	0	0	0	1	0	4	67					A	132547108	G	A	132547108	2	1	353	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132547108	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	110750080	132547108	1304787	24	33477											
ZFP106	64397	broad.mit.edu	37	chr15	42731630	42731632	+	In_Frame_Del	DEL	TTC	TTC	-													catgggcagcccgtagacttTtcttcttccggagtttcttc							TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr15:42731630_42731632delTTC	ENST00000263805.4	-	8	4400_4402	c.4074_4076delGAA	c.(4072-4077)aagaaa>aaa	p.1358_1359KK>K	ZNF106_ENST00000565611.1_In_Frame_Del_p.543_544KK>K|ZNF106_ENST00000565380.1_In_Frame_Del_p.586_587KK>K	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1358					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K1358K(1)									CCGTAGACTTTTCTTCTTCCGGA	0.438																																						ENST00000263805.4																			1	Substitution - coding silent(1)	p.K1358K(1)	cervix(1)								c.(4072-4077)aaa>aa		zinc finger protein 106																																				SO:0001651	inframe_deletion	64397							g.chr15:42731630_42731632delTTC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4074_4076delGAA	15.37:g.42731636_42731638delTTC	ENSP00000263805:p.Lys1359del					ZNF106_ENST00000565380.1_In_Frame_Del_p.KK586del|ZNF106_ENST00000565611.1_In_Frame_Del_p.KK543del	p.KK1358del	NM_022473.1	NP_071918.1					8	4400_4402	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	In_Frame_Del	DEL	ENST00000263805.4	37	c.4074_4076delGAA	CCDS32208.1																																																																																				0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	230						8	230	---	---	---	---	-	42731632	TTC	-	42731630	7	5	353	1	0	1	0	1	0	0	0	0	17634	1841	64	0	1623	0	ZFP106	15	42731630	In_Frame_Del	DEL	TTC	TCGA-P5-A5ET-01A-11D-A27K-08		42731630	59799762	25	33478											
KIAA1370	56204	broad.mit.edu	37	chr15	52901049	52901049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacatttccaacacagTaacttttatttttgagtcat	4	8	2	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr15:52901049T>C	ENST00000261844.7	-	6	2214	c.2062A>G	c.(2062-2064)Act>Gct	p.T688A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T695A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	688																	TCCAACACAGTAACTTTTATT	0.284																																						ENST00000261844.7																			0											c.(2062-2064)Act>Gct		family with sequence similarity 214, member A							81	74	76					15																	52901049		1791	4056	5847	SO:0001583	missense	56204							g.chr15:52901049T>C	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.2062A>G	15.37:g.52901049T>C	ENSP00000261844:p.Thr688Ala					FAM214A_ENST00000546305.2_Missense_Mutation_p.T695A	p.T688A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	2214	-			688					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2062A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	1.815	-0.473613	0.04414	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31510	1.49;1.49	6.16	0.834	0.18880	.	0.541762	0.21414	N	0.074938	T	0.16300	0.0392	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.12967	-1.0527	10	0.37606	T	0.19	.	2.9046	0.05716	0.1027:0.1901:0.1182:0.589	.	695;688	F5H8G0;Q32MH5	.;K1370_HUMAN	A	688;688;687;695	ENSP00000261844:T688A;ENSP00000443598:T695A	ENSP00000261844:T688A	T	-	1	0	KIAA1370	50688341	0.097000	0.21791	0.001000	0.08648	0.032000	0.12392	0.174000	0.16743	0.188000	0.20168	0.528000	0.53228	ACT		0.284	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	31	0	0	0	1	0	10	31					C	52901049	T	C	52901049	3	2	353	1	0	0	0	0	1	0	0	0	8226	1638	57	3	1200	3	KIAA1370	15	52901049	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08	10169419	52901049	49630343	26	33479											
JPH3	57338	broad.mit.edu	37	chr16	87678405	87678405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagccagcgctcggacggGctcaagtacgagggcgagtg	18	10	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr16:87678405G>A	ENST00000284262.2	+	2	1166	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	308					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)		GCTCGGACGGGCTCAAGTACG	0.642																																						ENST00000284262.2																			0				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						c.(922-924)ggG>ggA		junctophilin 3							67	72	70					16																	87678405		2198	4300	6498	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678405G>A	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.924G>A	16.37:g.87678405G>A							p.G308G	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1166	+			308					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.924G>A	CCDS10962.1																																																																																				0.642	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	101	0	0	0	1	0	4	101					A	87678405	G	A	87678405	2	1	353	1	0	0	0	0	0	0	0	1	7962	1190	42	2		2	JPH3	16	87678405	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		87678405	2676348	27	33480											
MLLT6	4302	broad.mit.edu	37	chr17	36872811	36872811	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcccatcatgcgcttcTccaccaccacctccagctca	6	19	3	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:36872811T>A	ENST00000325718.7	+	10	1319	c.1228T>A	c.(1228-1230)Tcc>Acc	p.S410T	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	410					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGCGCTTCTCCACCACCAC	0.662			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1228-1230)Tcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							33	39	37					17																	36872811		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36872811T>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1228T>A	17.37:g.36872811T>A	ENSP00000316426:p.Ser410Thr					CTB-58E17.9_ENST00000579499.1_RNA	p.S410T	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			10	1319	+	Breast(7;4.43e-21)		410					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1228T>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.956019	0.53293	.	.	ENSG00000108292	ENST00000325718	T	0.13420	2.59	5.33	4.23	0.50019	.	0.650666	0.15366	N	0.266127	T	0.08582	0.0213	N	0.25647	0.755	0.35471	D	0.797321	B	0.02656	0.0	B	0.04013	0.001	T	0.15206	-1.0445	10	0.07030	T	0.85	.	9.4751	0.38867	0.164:0.0:0.0:0.836	.	410	P55198	AF17_HUMAN	T	410	ENSP00000316426:S410T	ENSP00000316426:S410T	S	+	1	0	MLLT6	34126337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.310000	0.43708	0.829000	0.34733	0.459000	0.35465	TCC		0.662	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		38	78	0	0	0	1	0	38	78					A	36872811	T	A	36872811	3	1	353	1	0	0	0	0	1	0	0	0	9630	1551	54	5	1266	5	MLLT6	17	36872811	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		36872811	44322399	28	33481											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	15	17	1	1	rs201582973		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						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)					CGGCGGGGGGCAAGAGCCCCC	0.697																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(196-198)ttG>ttC		coilin																																				SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55038183C>G	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.198G>C	17.37:g.55038183C>G	ENSP00000240316:p.Leu66Phe						p.L66F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			1	232	-	Breast(9;6.15e-08)		66					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.198G>C	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280674	0.80692	.	.	ENSG00000121058	ENST00000240316	T	0.53640	0.61	4.32	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.63367	0.2505	M	0.74647	2.275	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.65434	-0.6169	10	0.87932	D	0	-7.22	8.381	0.32472	0.0:0.7562:0.1558:0.088	.	66	P38432	COIL_HUMAN	F	66	ENSP00000240316:L66F	ENSP00000240316:L66F	L	-	3	2	COIL	52393182	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.914000	0.39966	1.178000	0.42870	0.455000	0.32223	TTG		0.697	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	10	0	0	0	1	0	7	10					G	55038183	C	G	55038183	3	3	353	1	0	0	0	0	1	0	0	0	3665	709	25	4	1560	4	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	18165372	55038183	26157027	29	33482											
TANC2	26115	broad.mit.edu	37	chr17	61498201	61498201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagtaaccagcccagcCcagccgtccattcaagcacc	8	16	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:61498201C>T	ENST00000424789.2	+	25	4862	c.4858C>T	c.(4858-4860)Cca>Tca	p.P1620S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1620					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						CCAGCCCAGCCCAGCCGTCCA	0.577																																						ENST00000424789.2																			0				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						c.(4858-4860)Cca>Tca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							73	77	76					17																	61498201		2075	4217	6292	SO:0001583	missense	26115						binding	g.chr17:61498201C>T	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.4858C>T	17.37:g.61498201C>T	ENSP00000387593:p.Pro1620Ser					TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S|RP11-269G24.3_ENST00000583552.1_RNA	p.P1620S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4862	+			1620					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4858C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.642940	0.00792	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.61040	0.14;0.14	5.5	4.43	0.53597	.	0.160023	0.42420	N	0.000707	T	0.25232	0.0613	N	0.01874	-0.695	0.26032	N	0.98172	B	0.02656	0.0	B	0.01281	0.0	T	0.22730	-1.0208	10	0.02654	T	1	.	10.6066	0.45398	0.0:0.0766:0.0:0.9234	.	1620	Q9HCD6	TANC2_HUMAN	S	1630;1620	ENSP00000374171:P1630S;ENSP00000387593:P1620S	ENSP00000374171:P1630S	P	+	1	0	TANC2	58851933	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	1.189000	0.32114	0.949000	0.37715	-0.367000	0.07326	CCA		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			44	110	0	0	0	1	0	44	110					T	61498201	C	T	61498201	3	4	353	1	0	0	0	0	1	0	0	0	15542	623	22	2	4956	2	TANC2	17	61498201	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	6460018	61498201	19697009	30	33483											
AMZ2	51321	broad.mit.edu	37	chr17	66246612	66246612	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttatatacagtccattgGtaaatactggtaatgtgctg	8	6	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:66246612G>A	ENST00000359904.3	+	2	1415		c.e2+1		AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000585050.1_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								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)			CAGTCCATTGGTAAATACTGG	0.463																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.e2+1		archaelysin family metallopeptidase 2							93	94	94					17																	66246612		2203	4299	6502	SO:0001630	splice_region_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66246612G>A	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.283+1G>A	17.37:g.66246612G>A						AMZ2_ENST00000585050.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site		NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1415	+	all_cancers(12;1.12e-09)							A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Splice_Site	SNP	ENST00000359904.3	37		CCDS11674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405193	0.25378	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4601	0.32923	0.0:0.2415:0.7585:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMZ2	63758207	1.000000	0.71417	0.913000	0.36048	0.560000	0.35617	7.788000	0.85771	1.761000	0.52028	0.306000	0.20318	.		0.463	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	Intron	13	145	0	0	0	1	0	13	145					A	66246612	G	A	66246612	5	1	353	1	0	0	0	0	0	0	1	0	597	1275	44	2	286	2	AMZ2	17	66246612	Splice_Site	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	4748411	66246612	14948598	31	33484											
SLC38A10	124565	broad.mit.edu	37	chr17	79219799	79219799	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtccagccggtggccctGctgtccaccctgctcgccat	11	17	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:79219799G>A	ENST00000374759.3	-	16	3300	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	973					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGCCCTGCTGTCCACCC	0.692																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2917-2919)Cag>Tag		solute carrier family 38, member 10							23	27	26					17																	79219799		1985	4154	6139	SO:0001587	stop_gained	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219799G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2917C>T	17.37:g.79219799G>A	ENSP00000363891:p.Gln973*						p.Q973*	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3300	-	all_neural(118;0.0804)|Melanoma(429;0.242)		973					Q6ZRC5|Q8NA99|Q96C66	Nonsense_Mutation	SNP	ENST00000374759.3	37	c.2917C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	40	8.395263	0.98791	.	.	ENSG00000157637	ENST00000374759	.	.	.	2.36	1.36	0.22044	.	300.001000	0.00166	U	0.000008	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	5.9535	0.19261	0.162:0.0:0.838:0.0	.	.	.	.	X	973	.	ENSP00000363891:Q973X	Q	-	1	0	SLC38A10	76834394	0.008000	0.16893	0.562000	0.28370	0.253000	0.25986	0.055000	0.14229	0.207000	0.20607	0.467000	0.42956	CAG		0.692	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		34	48	0	0	0	1	0	34	48					A	79219799	G	A	79219799	4	1	353	1	0	0	0	0	0	1	0	0	14602	1328	46	2	446	2	SLC38A10	17	79219799	Nonsense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	12973187	79219799	1975411	32	33485											
DOT1L	84444	broad.mit.edu	37	chr19	2226268	2226268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaccttctcgcccatctccGacatcggcctggccaagtcg	8	19	2	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:2226268G>A	ENST00000398665.3	+	27	3784	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1250					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)		GCCCATCTCCGACATCGGCCT	0.677																																						ENST00000398665.3																			0				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						c.(3748-3750)Gac>Aac		DOT1-like histone H3K79 methyltransferase							18	23	22					19																	2226268		2025	4178	6203	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226268G>A	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.3748G>A	19.37:g.2226268G>A	ENSP00000381657:p.Asp1250Asn						p.D1250N	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		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)	27	3784	+		Hepatocellular(1079;0.137)	1250					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3748G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338884	0.95783	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.54675	0.84;0.56	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.70771	0.3262	M	0.66939	2.045	0.47994	D	0.999568	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.75399	-0.3331	10	0.87932	D	0	-35.9826	16.359	0.83246	0.0:0.0:1.0:0.0	.	1250;1250	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1250;1250;130	ENSP00000381657:D1250N;ENSP00000407411:D130N	ENSP00000221482:D1250N	D	+	1	0	DOT1L	2177268	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	8.513000	0.90542	2.180000	0.69256	0.561000	0.74099	GAC		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	31	0	0	0	1	0	3	31					A	2226268	G	A	2226268	3	1	353	1	0	0	0	0	1	0	0	0	4709	1058	37	1	3854	1	DOT1L	19	2226268	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		2226268	56902715	33	33486											
PRR19	284338	broad.mit.edu	37	chr19	42814088	42814088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcccaggaaccagccCcacggtccagggacaaagag	14	14	0	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:42814088C>T	ENST00000499536.2	+	1	1163	c.352C>T	c.(352-354)Cca>Tca	p.P118S	PRR19_ENST00000598490.1_Missense_Mutation_p.P118S|PRR19_ENST00000341747.3_Missense_Mutation_p.P118S			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(352-354)Cca>Tca		proline rich 19							35	44	41					19																	42814088		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42814088C>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.352C>T	19.37:g.42814088C>T	ENSP00000445247:p.Pro118Ser					PRR19_ENST00000341747.3_Missense_Mutation_p.P118S|PRR19_ENST00000598490.1_Missense_Mutation_p.P118S	p.P118S			A6NJB7	PRR19_HUMAN			1	1163	+		Prostate(69;0.00682)	118					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.352C>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.964419	0.00461	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.29	-0.236	0.13067	.	1.209420	0.06283	N	0.697670	T	0.18593	0.0446	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.27297	-1.0078	9	0.12103	T	0.63	-3.8251	6.7197	0.23323	0.0:0.5998:0.0:0.4002	.	118;118	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	S	118	.	ENSP00000342709:P118S	P	+	1	0	PRR19	47505928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.031000	0.13781	-0.254000	0.11334	CCA		0.672	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		5	22	0	0	0	1	0	5	22					T	42814088	C	T	42814088	3	4	353	1	0	0	0	0	1	0	0	0	12591	623	22	2	354	2	PRR19	19	42814088	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	40587820	42814088	16314895	34	33487											
GATSL3	652968	broad.mit.edu	37	chr22	30683477	30683477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcctgcactgccgcaCcgctgtgagacgacacgttc	11	16	0	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:30683477C>T	ENST00000407689.3	-	3	386	c.257G>A	c.(256-258)gGt>gAt	p.G86D	RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_5'Flank|GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	86										breast(1)|endometrium(1)|lung(1)	3						CACTGCCGCACCGCTGTGAGA	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000407689.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(256-258)gGt>gAt		GATS protein-like 3							30	35	34					22																	30683477		2198	4291	6489	SO:0001583	missense	652968							g.chr22:30683477C>T		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.257G>A	22.37:g.30683477C>T	ENSP00000384183:p.Gly86Asp		OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	819	GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D|RP1-130H16.18_ENST00000447976.1_3'UTR	p.G86D	NM_001037666.2	NP_001032755.1					3	386	-								O76052|Q96ND9|Q9UIE8	Missense_Mutation	SNP	ENST00000407689.3	37	c.257G>A	CCDS43001.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500263	0.44455	.	.	ENSG00000239282;ENSG00000239282;ENSG00000248751	ENST00000407689;ENST00000404953;ENST00000434291	T	0.09538	2.97	4.85	3.84	0.44239	.	0.312693	0.38959	N	0.001510	T	0.10508	0.0257	L	0.44542	1.39	0.09310	N	1	B;B	0.20164	0.042;0.042	B;B	0.22880	0.042;0.028	T	0.21211	-1.0252	10	0.25751	T	0.34	-13.0326	12.2121	0.54386	0.0:0.918:0.0:0.082	.	86;86	Q8WTX7;B7WPJ3	GATL3_HUMAN;.	D	86;86;275	ENSP00000401535:G275D	ENSP00000385868:G86D	G	-	2	0	RP1-130H16.18;GATSL3	29013477	0.033000	0.19621	0.043000	0.18650	0.895000	0.52256	2.796000	0.47869	1.287000	0.44583	0.561000	0.74099	GGT		0.627	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2	NM_001037666		21	35	0	0	0	1	0	21	35					T	30683477	C	T	30683477	3	4	353	1	0	0	0	0	1	0	0	0	6265	507	18	2	760	2	GATSL3	22	30683477	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		30683477	20621089	35	33488											
ZBED1	9189	broad.mit.edu	37	chrX	2406764	2406764	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtccaggccccacTccccctcgtcctggtcctcg	9	21	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CAGGCCCCACTCCCCCTCGTC	0.647																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1996-1998)gAg>gGg		zinc finger, BED-type containing 1							123	117	119					X																	2406764		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406764T>C	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1997A>G	X.37:g.2406764T>C	ENSP00000370621:p.Glu666Gly					ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron	p.E666G	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2200	-		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)	666					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1997A>G	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293964	0.23564	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	2.93	2.93	0.34026	.	0.000000	0.41396	U	0.000900	T	0.63260	0.2496	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.54695	-0.8255	8	0.62326	D	0.03	.	10.5576	0.45127	0.0:0.0:0.0:1.0	.	666	O96006	ZBED1_HUMAN	G	666	.	ENSP00000370616:E666G	E	-	2	0	ZBED1	2416764	0.998000	0.40836	0.762000	0.31397	0.518000	0.34316	2.741000	0.47426	0.886000	0.36113	0.347000	0.21830	GAG		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		4	144	0	0	0	1	0	4	144					C	2406764	T	C	2406764	3	2	353	1	0	0	0	0	1	0	0	0	17514	1551	54	3	91	3	ZBED1	23	2406764	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		2406764	152863796	36	33489											
C1orf175	374977	broad.mit.edu	37	chr1	55166019	55166019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatggagcaggtgcgccGgatccccgaggaatactctc	13	13	1	1	rs540672415		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:55166019G>A	ENST00000421030.2	+	18	3275	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	MROH7_ENST00000454855.2_Missense_Mutation_p.R515Q|MROH7_ENST00000545244.1_Missense_Mutation_p.G527R|MROH7_ENST00000409996.1_Missense_Mutation_p.R565Q|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R997Q	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	997						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CAGGTGCGCCGGATCCCCGAG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17092	0.0		0.0	False		,,,				2504	0.0					ENST00000414150.2																			0											c.(2989-2991)cGg>cAg		maestro heat-like repeat family member 7							27	29	28					1																	55166019		1955	4133	6088	SO:0001583	missense	374977							g.chr1:55166019G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2990G>A	1.37:g.55166019G>A	ENSP00000396622:p.Arg997Gln					MROH7_ENST00000421030.2_Missense_Mutation_p.R997Q|MROH7_ENST00000409996.1_Missense_Mutation_p.R565Q|MROH7_ENST00000454855.2_Missense_Mutation_p.R515Q|MROH7_ENST00000545244.1_Missense_Mutation_p.G527R	p.R997Q							18	3268	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2990G>A	CCDS41342.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.833640|3.833640	0.71258|0.71258	.|.	.|.	ENSG00000184313|ENSG00000184313	ENST00000545244|ENST00000421030;ENST00000414867;ENST00000409996;ENST00000454855;ENST00000371287	T|T;T;T;T	0.03772|0.31247	3.81|1.5;1.5;1.5;2.62	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.572426	.|0.15690	.|N	.|0.249490	T|T	0.56775|0.56775	0.2008|0.2008	M|M	0.77103|0.77103	2.36|2.36	0.40445|0.40445	D|D	0.980085|0.980085	D|P;D	0.67145|0.89917	0.996|0.952;1.0	P|B;D	0.56514|0.81914	0.8|0.319;0.995	T|T	0.52779|0.52779	-0.8530|-0.8530	9|10	0.72032|0.41790	D|T	0.01|0.15	-20.1366|-20.1366	14.7732|14.7732	0.69696|0.69696	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	527|997;997	F5H7R4|Q68CQ1;Q68CQ1-9	.|HEAT8_HUMAN;.	R|Q	527|997;1026;565;515;66	ENSP00000442333:G527R|ENSP00000396622:R997Q;ENSP00000387048:R565Q;ENSP00000401130:R515Q;ENSP00000360336:R66Q	ENSP00000442333:G527R|ENSP00000360336:R66Q	G|R	+|+	1|2	0|0	HEATR8|HEATR8	54938607|54938607	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.235000|0.235000	0.25334|0.25334	4.787000|4.787000	0.62432|0.62432	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGA|CGG		0.642	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		4	50	0	0	0	1	0	4	50					A	55166019	G	A	55166019	3	1	354	1	0	0	0	0	1	0	0	0	2016	1116	39	1	3052	1	C1orf175	1	55166019	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		55166019	194084602	1	33490											
C8A	731	broad.mit.edu	37	chr1	57341750	57341750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtcgctgcctgaaacGccaccttgtgtgtaatggag	12	11	0	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:57341750G>A	ENST00000361249.3	+	4	428	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	111	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCTGAAACGCCACCTTGTG	0.542																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(331-333)cGc>cAc		complement component 8, alpha polypeptide							95	83	87					1																	57341750		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341750G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.332G>A	1.37:g.57341750G>A	ENSP00000354458:p.Arg111His						p.R111H	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			4	428	+			111			LDL-receptor class A.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.332G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220530	0.79464	.	.	ENSG00000157131	ENST00000361249	D	0.87256	-2.23	5.83	3.92	0.45320	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.367344	0.32175	N	0.006463	D	0.90300	0.6966	L	0.55017	1.72	0.40633	D	0.981878	D	0.89917	1.0	D	0.81914	0.995	D	0.89739	0.3932	10	0.72032	D	0.01	-9.3297	9.1003	0.36664	0.1347:0.1226:0.7426:0.0	.	111	P07357	CO8A_HUMAN	H	111	ENSP00000354458:R111H	ENSP00000354458:R111H	R	+	2	0	C8A	57114338	0.732000	0.28121	0.999000	0.59377	0.990000	0.78478	1.095000	0.30964	0.782000	0.33613	0.650000	0.86243	CGC		0.542	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		16	38	0	0	0	1	0	16	38					A	57341750	G	A	57341750	3	1	354	1	0	0	0	0	1	0	0	0	2416	1087	38	1	346	1	C8A	1	57341750	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	2175731	57341750	191908871	2	33491											
RPE65	6121	broad.mit.edu	37	chr1	68904625	68904625	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagtgtcctttcttacCctttccagcagcagagatcc	7	14	1	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:68904625C>A	ENST00000262340.5	-	9	1051	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	333			G -> R (found in a patient with LCA2). {ECO:0000269|PubMed:21602930}.		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						CCTTTCTTACCCTTTCCAGCA	0.423																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.e9+1		retinal pigment epithelium-specific protein 65kDa							288	284	285					1																	68904625		2203	4300	6503	SO:0001630	splice_region_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68904625C>A	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.998+1G>T	1.37:g.68904625C>A							p.G333_splice	NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			9	1051	-			333					A8K1L0|Q5T9U3	Splice_Site	SNP	ENST00000262340.5	37	c.998_splice	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148405	0.78001	.	.	ENSG00000116745	ENST00000262340	D	0.94862	-3.54	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96597	0.9442	9	.	.	.	-15.0891	18.0218	0.89257	0.0:1.0:0.0:0.0	.	333	Q16518	RPE65_HUMAN	V	333	ENSP00000262340:G333V	.	G	-	2	0	RPE65	68677213	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.487000	0.81328	2.256000	0.74724	0.650000	0.86243	GGA		0.423	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	Missense_Mutation	124	190	1	0	6.74356e-53	1	7.30552e-53	124	190					A	68904625	C	A	68904625	5	1	354	1	0	0	0	0	0	0	1	0	13545	637	22	4	627	4	RPE65	1	68904625	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11562875	68904625	180345996	3	33492											
RSBN1	54665	broad.mit.edu	37	chr1	114308980	114308980	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatgacatttctagggatGaagtagatatcattgtcgca	10	5	2	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:114308980G>A	ENST00000261441.5	-	7	2094	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	677						nucleus (GO:0005634)		p.F677F(1)		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)		TTCTAGGGATGAAGTAGATAT	0.443																																						ENST00000261441.5																			1	Substitution - coding silent(1)	p.F677F(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2029-2031)ttC>ttT		round spermatid basic protein 1							100	93	95					1																	114308980		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308980G>A	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.2031C>T	1.37:g.114308980G>A						RSBN1_ENST00000369581.2_5'UTR	p.F677F	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		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)	7	2094	-	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)	677					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2031C>T	CCDS862.1																																																																																				0.443	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		39	62	0	0	0	1	0	39	62					A	114308980	G	A	114308980	2	1	354	1	0	0	0	0	0	0	0	1	13696	1281	45	2		2	RSBN1	1	114308980	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	45404355	114308980	134941641	4	33493											
MPZ	4359	broad.mit.edu	37	chr1	161275672	161275672	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggcccgctaaccgctatttCttatccttgcgagactcccc	7	17	1	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:161275672C>T	ENST00000533357.1	-	6	807	c.741G>A	c.(739-741)aaG>aaA	p.K247K	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Silent_p.K257K|MPZ_ENST00000491222.2_Silent_p.K51K|MPZ_ENST00000336559.4_Missense_Mutation_p.R247K	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	247					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592																																						ENST00000336559.4																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(739-741)aGa>aAa		myelin protein zero							56	56	56					1																	161275672		2203	4300	6503	SO:0001819	synonymous_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161275672C>T	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"Immunoglobulin superfamily / V-set domain containing"	7225	protein-coding gene	gene with protein product		159440	"Charcot-Marie-Tooth neuropathy 1B"	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.741G>A	1.37:g.161275672C>T						MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Silent_p.K257K|MPZ_ENST00000533357.1_Silent_p.K247K|MPZ_ENST00000491222.2_Silent_p.K51K	p.R247K			P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	806	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	0					Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	c.740G>A	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782831	0.70222	.	.	ENSG00000158887	ENST00000336559	D	0.96651	-4.08	5.17	5.17	0.71159	.	.	.	.	.	D	0.97402	0.9150	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	D	0.97892	1.0298	5	0.87932	D	0	-14.4508	16.2183	0.82241	0.0:1.0:0.0:0.0	.	.	.	.	K	247	ENSP00000337777:R247K	ENSP00000337777:R247K	R	-	2	0	MPZ	159542296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.628000	0.54259	2.687000	0.91594	0.655000	0.94253	AGA		0.592	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		44	58	0	0	0	1	0	44	58					T	161275672	C	T	161275672	2	4	354	1	0	0	0	0	0	0	0	1	9748	912	32	2		2	MPZ	1	161275672	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	46966692	161275672	87974949	5	33494											
APOB	338	broad.mit.edu	37	chr2	21225141	21225141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcaaaatattcttcacGaagggccataatgtattgat	8	6	3	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:21225141G>A	ENST00000233242.1	-	29	13280	c.13153C>T	c.(13153-13155)Cgt>Tgt	p.R4385C	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4385					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)					TATTCTTCACGAAGGGCCATA	0.363																																						ENST00000233242.1																			0				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						c.(13153-13155)Cgt>Tgt		apolipoprotein B	Atorvastatin(DB01076)						55	58	57					2																	21225141		2202	4300	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225141G>A	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.13153C>T	2.37:g.21225141G>A	ENSP00000233242:p.Arg4385Cys						p.R4385C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	13280	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4385					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13153C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589078	0.66105	.	.	ENSG00000084674	ENST00000233242	T	0.38722	1.12	5.9	3.11	0.35812	.	0.474036	0.19658	N	0.109046	T	0.35913	0.0948	L	0.52573	1.65	0.80722	D	1	B	0.26041	0.14	B	0.16289	0.015	T	0.27971	-1.0058	10	0.87932	D	0	.	11.2816	0.49197	0.1991:0.0:0.8009:0.0	.	4385	P04114	APOB_HUMAN	C	4385	ENSP00000233242:R4385C	ENSP00000233242:R4385C	R	-	1	0	APOB	21078646	0.524000	0.26282	0.062000	0.19696	0.667000	0.39255	0.627000	0.24506	0.829000	0.34733	0.591000	0.81541	CGT		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			24	42	0	0	0	1	0	24	42					A	21225141	G	A	21225141	3	1	354	1	0	0	0	0	1	0	0	0	785	1058	37	1	542	1	APOB	2	21225141	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		21225141	221974232	6	33495											
ZAP70	7535	broad.mit.edu	37	chr2	98354121	98354121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgggtgccgacgacagctActacactgtaagcctctgcc	10	14	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:98354121A>G	ENST00000264972.5	+	11	1690	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.Y366C|ZAP70_ENST00000451498.2_Missense_Mutation_p.Y185C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	492	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						GACGACAGCTACTACACTGTA	0.637																																						ENST00000264972.5																			0				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						c.(1474-1476)tAc>tGc		zeta-chain (TCR) associated protein kinase 70kDa							51	49	50					2																	98354121		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354121A>G	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.1475A>G	2.37:g.98354121A>G	ENSP00000264972:p.Tyr492Cys					ZAP70_ENST00000442208.1_Missense_Mutation_p.Y366C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.Y185C	p.Y492C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			11	1690	+			492			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1475A>G	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569133	0.45798	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83673	-1.75;-1.75;-1.75	5.2	5.2	0.72013	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	0.000344	D	0.90466	0.7014	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91609	0.5301	10	0.87932	D	0	.	13.3309	0.60485	1.0:0.0:0.0:0.0	.	366;492	P43403-3;P43403	.;ZAP70_HUMAN	C	492;366;185	ENSP00000264972:Y492C;ENSP00000411141:Y366C;ENSP00000400475:Y185C	ENSP00000264972:Y492C	Y	+	2	0	ZAP70	97720553	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	9.332000	0.96446	2.109000	0.64355	0.533000	0.62120	TAC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			30	46	0	0	0	1	0	30	46					G	98354121	A	G	98354121	3	3	354	1	0	0	0	0	1	0	0	0	17511	391	14	3	1509	3	ZAP70	2	98354121	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	77128980	98354121	144845252	7	33496											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	48	0	0	0	1	0	30	48					T	209113112	C	T	209113112	3	4	354	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	110758991	209113112	34086261	8	33497											
OTOS	150677	broad.mit.edu	37	chr2	241079506	241079506	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgcacaggcttggcccCtgcaaaggaagagaagagct	12	12	0	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:241079506C>T	ENST00000391989.2	-	4	289		c.e4-1		OTOS_ENST00000319460.1_Splice_Site			Q8NHW6	OTOSP_HUMAN	otospiralin						sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCTTGGCCCCTGCAAAGGAA	0.572																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.e4-1		otospiralin							53	52	53					2																	241079506		2203	4300	6503	SO:0001630	splice_region_variant	150677					extracellular region		g.chr2:241079506C>T		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.59-1G>A	2.37:g.241079506C>T						OTOS_ENST00000319460.1_Splice_Site				Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	4	289	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)						Q53SW6	Splice_Site	SNP	ENST00000391989.2	37		CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732168	0.48939	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0273	0.47753	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OTOS	240728179	0.995000	0.38212	0.990000	0.47175	0.897000	0.52465	2.961000	0.49168	1.863000	0.54032	0.563000	0.77884	.		0.572	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961	Intron	23	8	0	0	0	1	0	23	8					T	241079506	C	T	241079506	5	4	354	1	0	0	0	0	0	0	1	0	11309	695	24	2	219	2	OTOS	2	241079506	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	31966394	241079506	2119867	9	33498											
RTP2	344892	broad.mit.edu	37	chr3	187416395	187416395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagttgtagccggatcccGcctgggccctcggcttggag	15	12	0	1	rs569180222		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:187416395G>A	ENST00000358241.1	-	2	997	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	190					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)		GCCGGATCCCGCCTGGGCCCT	0.612																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(568-570)gCg>gTg		receptor (chemosensory) transporter protein 2							73	79	77					3																	187416395		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416395G>A	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.569C>T	3.37:g.187416395G>A	ENSP00000350976:p.Ala190Val						p.A190V	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	997	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		190					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.569C>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	3.371	-0.128517	0.06753	.	.	ENSG00000198471	ENST00000358241	T	0.17370	2.28	3.75	-2.79	0.05841	.	1.010060	0.07948	N	0.980454	T	0.08223	0.0205	N	0.14661	0.345	0.09310	N	1	B	0.25486	0.127	B	0.19148	0.024	T	0.36817	-0.9732	10	0.30854	T	0.27	-0.0478	6.2566	0.20877	0.0:0.3485:0.403:0.2485	.	190	Q5QGT7	RTP2_HUMAN	V	190	ENSP00000350976:A190V	ENSP00000350976:A190V	A	-	2	0	RTP2	188899089	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.433000	0.02428	-0.527000	0.06374	0.462000	0.41574	GCG		0.612	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		47	75	0	0	0	1	0	47	75					A	187416395	G	A	187416395	3	1	354	1	0	0	0	0	1	0	0	0	13734	1087	38	1	112	1	RTP2	3	187416395	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		187416395	10606035	10	33499											
GPR78	27201	broad.mit.edu	37	chr4	8583134	8583134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctcaggcgctgcacTtggctgctcgtggcttggct	14	13	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:8583134T>G	ENST00000382487.4	+	1	842	c.425T>G	c.(424-426)cTt>cGt	p.L142R	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L142H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711																																						ENST00000382487.4																			1	Substitution - Missense(1)	p.L142H(1)	kidney(1)	central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(424-426)cTt>cGt		G protein-coupled receptor 78							10	12	11					4																	8583134		2171	4254	6425	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8583134T>G	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.425T>G	4.37:g.8583134T>G	ENSP00000371927:p.Leu142Arg					GPR78_ENST00000509216.1_Intron	p.L142R	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			1	842	+			142					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.425T>G	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455121	0.26161	.	.	ENSG00000155269	ENST00000382487	T	0.44881	0.91	2.53	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.457587	0.17015	U	0.190338	T	0.51312	0.1667	L	0.52905	1.665	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.38329	-0.9666	10	0.87932	D	0	.	3.8196	0.08830	0.2165:0.0:0.2231:0.5603	.	142	Q96P69	GPR78_HUMAN	R	142	ENSP00000371927:L142R	ENSP00000371927:L142R	L	+	2	0	GPR78	8634034	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	2.368000	0.44222	-0.067000	0.12976	0.260000	0.18958	CTT		0.711	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			13	20	0	0	0	1	0	13	20					G	8583134	T	G	8583134	3	3	354	1	0	0	0	0	1	0	0	0	6710	1609	56	5	427	5	GPR78	4	8583134	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		8583134	182571142	11	33500											
PIK3R1	5295	broad.mit.edu	37	chr5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgacaaacgtatgAacagcattaaaccagacctt	7	8	0	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					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.N564D(4)|p.D560_S565del(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)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(4)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)	large_intestine(3)|central_nervous_system(2)|lung(1)|endometrium(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						c.(1690-1692)Aac>Gac		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						146	145	146					5																	67591097		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591097A>G	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.1690A>G	5.37:g.67591097A>G	ENSP00000428056:p.Asn564Asp	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D	p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2306	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	564					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1690A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694508	0.88830	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.84846	2.72	0.80722	D	1	B;B;B;P	0.50272	0.162;0.107;0.082;0.933	B;B;B;P	0.53450	0.202;0.352;0.236;0.726	T	0.61535	-0.7043	10	0.66056	D	0.02	-28.8288	14.3587	0.66754	1.0:0.0:0.0:0.0	.	234;294;264;564	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	D	564;564;564;564;264;294;201	ENSP00000428056:N564D;ENSP00000429277:N564D;ENSP00000379855:N564D;ENSP00000274335:N564D;ENSP00000323512:N264D;ENSP00000338554:N294D;ENSP00000430098:N201D	ENSP00000274335:N564D	N	+	1	0	PIK3R1	67626853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.036000	0.60181	0.377000	0.23210	AAC		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		52	51	0	0	0	1	0	52	51					G	67591097	A	G	67591097	3	3	354	1	0	0	0	0	1	0	0	0	11918	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08		67591097	113324163	12	33501											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854526	79854526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgggtaacactgtgaTctaaagggaaagctcctgaa	12	6	1	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:79854526T>C	ENST00000338682.3	-	5	1985	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	438						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AACACTGTGATCTAAAGGGAA	0.453																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(1312-1314)gAt>gGt		ankyrin repeat domain 34B							132	138	136					5																	79854526		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79854526T>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1313A>G	5.37:g.79854526T>C	ENSP00000339802:p.Asp438Gly						p.D438G	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1985	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	438					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.1313A>G	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929328	0.34096	.	.	ENSG00000189127	ENST00000338682	T	0.27402	1.67	6.04	6.04	0.98038	.	0.145674	0.40818	N	0.001003	T	0.52789	0.1756	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	P	0.59546	0.859	T	0.57046	-0.7878	10	0.87932	D	0	-15.3671	15.4235	0.75031	0.0:0.0:0.0:1.0	.	438	A5PLL1	AN34B_HUMAN	G	438	ENSP00000339802:D438G	ENSP00000339802:D438G	D	-	2	0	ANKRD34B	79890282	1.000000	0.71417	0.900000	0.35374	0.045000	0.14185	7.985000	0.88162	2.317000	0.78254	0.460000	0.39030	GAT		0.453	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		75	109	0	0	0	1	0	75	109					C	79854526	T	C	79854526	3	2	354	1	0	0	0	0	1	0	0	0	663	1435	50	3	235	3	ANKRD34B	5	79854526	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	12263429	79854526	101060734	13	33502											
STX11	8676	broad.mit.edu	37	chr6	144508400	144508400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcgagagccgccaccgCgaactgctgcgcctggagag	15	13	0	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr6:144508400C>T	ENST00000367568.4	+	2	819	c.636C>T	c.(634-636)cgC>cgT	p.R212R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	212	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031). {ECO:0000305}.	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)		GCCGCCACCGCGAACTGCTGC	0.637									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(634-636)cgC>cgT		syntaxin 11							36	39	38					6																	144508400		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508400C>T	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.636C>T	6.37:g.144508400C>T							p.R212R	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	819	+			212	ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).		t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.636C>T	CCDS5205.1																																																																																				0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			40	14	0	0	0	1	0	40	14					T	144508400	C	T	144508400	2	4	354	1	0	0	0	0	0	0	0	1	15336	755	27	1		1	STX11	6	144508400	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		144508400	26606667	14	33503											
AEBP1	165	broad.mit.edu	37	chr7	44151920	44151920	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctttcgccagatgccacGgtgaggctacagcctggctg	12	13	0	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:44151920G>A	ENST00000223357.3	+	17	2522	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	AEBP1_ENST00000450684.2_Splice_Site_p.T314T|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	739	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						CAGATGCCACGGTGAGGCTAC	0.622																																						ENST00000223357.3																			0				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						c.e17+1		AE binding protein 1							32	34	33					7																	44151920		2203	4300	6503	SO:0001630	splice_region_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151920G>A	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.2217+1G>A	7.37:g.44151920G>A						AEBP1_ENST00000450684.2_Splice_Site_p.T314_splice	p.T739_splice	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			17	2522	+			739			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Splice_Site	SNP	ENST00000223357.3	37	c.2217_splice	CCDS5476.1																																																																																				0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	Silent	4	75	0	0	0	1	0	4	75					A	44151920	G	A	44151920	5	1	354	1	0	0	0	0	0	0	1	0	349	1130	39	1	2283	1	AEBP1	7	44151920	Splice_Site	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		44151920	114986743	15	33504											
MUC17	140453	broad.mit.edu	37	chr7	100679199	100679199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcctacacctgctgaagGtaccagcatagcaatctcaa	6	13	2	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100679199G>A	ENST00000306151.4	+	3	4566	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1501	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)					CCTGCTGAAGGTACCAGCATA	0.478																																						ENST00000306151.4																			0				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						c.(4501-4503)gGt>gAt		mucin 17, cell surface associated							193	185	188					7																	100679199		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679199G>A	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.4502G>A	7.37:g.100679199G>A	ENSP00000302716:p.Gly1501Asp						p.G1501D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4566	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1501			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4502G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.595005	0.00857	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	0.834	-1.67	0.08238	.	.	.	.	.	T	0.01905	0.0060	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47736	-0.9094	9	0.15066	T	0.55	.	2.2502	0.04042	0.5225:0.0:0.2299:0.2476	.	1501	Q685J3	MUC17_HUMAN	D	1501	ENSP00000302716:G1501D	ENSP00000302716:G1501D	G	+	2	0	MUC17	100465919	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.819000	0.00358	-1.974000	0.00998	-1.379000	0.01178	GGT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	337	0	0	0	1	0	6	337					A	100679199	G	A	100679199	3	1	354	1	0	0	0	0	1	0	0	0	9974	1261	44	2	4512	2	MUC17	7	100679199	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	56527279	100679199	58459464	16	33505											
PCM1	5108	broad.mit.edu	37	chr8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctacaagtagtaaccGcaaaaatcaattagatacaa	4	7	2	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:17829972G>A	ENST00000519253.1	+	23	3970	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000325083.8_Missense_Mutation_p.R1240H|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H			Q15154	PCM1_HUMAN	pericentriolar material 1	1240					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)		AGTAGTAACCGCAAAAATCAA	0.383			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(3718-3720)cGc>cAc		pericentriolar material 1							91	86	87					8																	17829972		1848	4087	5935	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17829972G>A		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.3719G>A	8.37:g.17829972G>A	ENSP00000431099:p.Arg1240His					PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H	p.R1240H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	23	4158	+			1240					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3719G>A		.	.	.	.	.	.	.	.	.	.	G	1.036	-0.680456	0.03353	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.50277	0.75;0.75;0.75	4.97	3.19	0.36642	.	0.364612	0.32416	N	0.006134	T	0.15435	0.0372	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.13145	0.0;0.007;0.0;0.007	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.03034	-1.1080	10	0.27082	T	0.32	-1.6817	4.7527	0.13068	0.3013:0.1584:0.5402:0.0	.	102;1240;1241;1240	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	H	1240;1240;1241	ENSP00000327077:R1240H;ENSP00000431099:R1240H;ENSP00000430521:R1241H	ENSP00000327077:R1240H	R	+	2	0	PCM1	17874252	0.837000	0.29446	1.000000	0.80357	0.087000	0.18053	0.636000	0.24644	0.776000	0.33473	-0.424000	0.05967	CGC		0.383	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	52	0	0	0	1	0	3	52					A	17829972	G	A	17829972	3	1	354	1	0	0	0	0	1	0	0	0	11584	1087	38	1	3801	1	PCM1	8	17829972	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		17829972	128534050	17	33506											
TOP1MT	116447	broad.mit.edu	37	chr8	144392244	144392244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacacgcaccaggcaAtgctgatcctggggtccagg	13	14	0	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144392244A>G	ENST00000329245.4	-	13	1731	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I468T	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	566					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCACCAGGCAATGCTGATCCT	0.627																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1402-1404)aTt>aCt		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						105	94	98					8																	144392244		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144392244A>G	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1697T>C	8.37:g.144392244A>G	ENSP00000328835:p.Ile566Thr					TOP1MT_ENST00000521193.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I566T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I468T	p.I468T			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		14	1808	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		566					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1403T>C	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109653	0.37242	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.18	3.01	0.34805	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);	0.359358	0.19123	U	0.122134	T	0.39600	0.1084	M	0.74258	2.255	0.44006	D	0.996715	B;B	0.33583	0.418;0.02	B;B	0.28305	0.088;0.026	T	0.29397	-1.0013	10	0.66056	D	0.02	.	8.5781	0.33612	0.9058:0.0:0.0942:0.0	.	361;566	E7ESI1;Q969P6	.;TOP1M_HUMAN	T	566;468;468;468	ENSP00000328835:I566T;ENSP00000428369:I468T;ENSP00000429169:I468T;ENSP00000429181:I468T	ENSP00000328835:I566T	I	-	2	0	TOP1MT	144463619	0.403000	0.25319	0.003000	0.11579	0.791000	0.44710	5.083000	0.64456	0.480000	0.27534	0.421000	0.28195	ATT		0.627	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		47	79	0	0	0	1	0	47	79					G	144392244	A	G	144392244	3	3	354	1	0	0	0	0	1	0	0	0	16361	101	4	3	116	3	TOP1MT	8	144392244	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	126562272	144392244	1971778	18	33507											
EPPK1	83481	broad.mit.edu	37	chr8	144942913	144942913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccagggtggtgactgcGctgaccacctgccgcagggc	15	14	0	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144942913G>A	ENST00000525985.1	-	2	4580	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S				P58107	EPIPL_HUMAN	epiplakin 1	1503						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)			TGGTGACTGCGCTGACCACCT	0.687																																						ENST00000525985.1																			0				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						c.(4507-4509)agC>agT		epiplakin 1							15	18	17					8																	144942913		2118	4223	6341	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942913G>A	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.4509C>T	8.37:g.144942913G>A							p.S1503S			P58107	EPIPL_HUMAN	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)		2	4580	-	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)		1503					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.4509C>T																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	8	0	0	0	1	0	4	8					A	144942913	G	A	144942913	2	1	354	1	0	0	0	0	0	0	0	1	5190	1078	38	1		1	EPPK1	8	144942913	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	550669	144942913	1421109	19	33508											
OR4C13	283092	broad.mit.edu	37	chr11	49974106	49974106	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggaaatgtgctcattgtGgtcaccatcactgccagccc	9	12	3	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:49974106G>T	ENST00000555099.1	+	1	164	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	44						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(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCTCATTGTGGTCACCATCA	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(130-132)gtG>gtT		olfactory receptor, family 4, subfamily C, member 13							247	225	233					11																	49974106		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974106G>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.132G>T	11.37:g.49974106G>T							p.V44V	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	164	+			44					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.132G>T	CCDS31495.1																																																																																				0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		120	155	1	0	8.41509e-73	1	9.31031e-73	120	155					T	49974106	G	T	49974106	2	4	354	1	0	0	0	0	0	0	0	1	11047	1335	47	4		4	OR4C13	11	49974106	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		49974106	85032410	20	33509											
DAGLA	747	broad.mit.edu	37	chr11	61504678	61504678	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggaaccaaacactacggcCtgattgtggtgggccactcc	12	13	0	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:61504678C>G	ENST00000257215.5	+	14	1512	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	466					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTACGGCCTGATTGTGGT	0.637																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1396-1398)Ctg>Gtg		diacylglycerol lipase, alpha							127	132	130					11																	61504678		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61504678C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1396C>G	11.37:g.61504678C>G	ENSP00000257215:p.Leu466Val						p.L466V	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	14	1512	+			466					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1396C>G	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428419	0.83667	.	.	ENSG00000134780	ENST00000257215	T	0.45668	0.89	3.91	3.91	0.45181	.	0.000000	0.64402	D	0.000005	T	0.60945	0.2308	M	0.62266	1.93	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.63386	-0.6649	10	0.44086	T	0.13	-13.9632	16.2789	0.82658	0.0:1.0:0.0:0.0	.	466	Q9Y4D2	DGLA_HUMAN	V	466	ENSP00000257215:L466V	ENSP00000257215:L466V	L	+	1	2	DAGLA	61261254	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.614000	0.61183	1.901000	0.55032	0.313000	0.20887	CTG		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		135	177	0	0	0	1	0	135	177					G	61504678	C	G	61504678	3	3	354	1	0	0	0	0	1	0	0	0	4226	680	24	4	1446	4	DAGLA	11	61504678	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11530572	61504678	73501838	21	33510											
GXYLT1	283464	broad.mit.edu	37	chr12	42512817	42512817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactctgcctttaaagctAtgatgtagctgatcttcagc	7	10	3	2	rs201566551		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					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)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(469-471)caT>caC		glucoside xylosyltransferase 1							71	64	66					12																	42512817		1859	4097	5956	SO:0001819	synonymous_variant	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42512817A>G	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.471T>C	12.37:g.42512817A>G						GXYLT1_ENST00000280876.6_Silent_p.H126H	p.H157H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			3	703	-			157					B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	c.471T>C	CCDS41772.1																																																																																				0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		4	25	0	0	0	1	0	4	25					G	42512817	A	G	42512817	2	3	354	1	0	0	0	0	0	0	0	1	6903	446	16	3		3	GXYLT1	12	42512817	Silent	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08		42512817	91339078	22	33511											
AMIGO2	91523	broad.mit.edu	37	chr12	47471391	47471391	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggggttccaaaaacaccacTcttttacctgcacctgcctt	6	14	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:47471391T>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465S|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R465S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465S			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										AAAACACCACTCTTTTACCTG	0.522																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1393-1395)agA>agT		adhesion molecule with Ig-like domain 2							122	113	116					12																	47471391		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471391T>A	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		12.37:g.47471391T>A	Exception_encountered					AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465S|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465S	p.R465S	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1861	-	Renal(347;0.138)|Lung SC(27;0.192)		465					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1395A>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692080	0.68271	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.08	0.0749	0.14397	.	0.078201	0.64402	D	0.000014	T	0.52533	0.1740	M	0.62723	1.935	0.48341	D	0.999638	D	0.57257	0.979	P	0.54270	0.747	T	0.50541	-0.8816	10	0.42905	T	0.14	-13.9742	10.6	0.45360	0.0:0.4567:0.0:0.5433	.	465	Q86SJ2	AMGO2_HUMAN	S	465	ENSP00000266581:R465S;ENSP00000449034:R465S;ENSP00000406020:R465S;ENSP00000320848:R465S	ENSP00000266581:R465S	R	-	3	2	AMIGO2	45757658	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.411000	0.21115	-0.074000	0.12820	0.454000	0.30748	AGA		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		28	7	0	0	0	1	0	28	7					A	47471391	T	A	47471391	1	1	354	0	1	0	0	0	0	0	0	0	576	1548	54	5		5	AMIGO2	12	47471391	5'Flank	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	4958574	47471391	86380504	23	33512											
PLCB2	5330	broad.mit.edu	37	chr15	40584082	40584082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgttggggccaacgccCcattgacctggctggcaact	12	14	0	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:40584082C>T	ENST00000260402.3	-	24	2819	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	PLCB2_ENST00000557821.1_Missense_Mutation_p.G853E|PLCB2_ENST00000456256.2_Missense_Mutation_p.G857E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	857					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCAACGCCCCATTGACCTG	0.622																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2569-2571)gGg>gAg		phospholipase C, beta 2							64	75	72					15																	40584082		2042	4193	6235	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40584082C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2570G>A	15.37:g.40584082C>T	ENSP00000260402:p.Gly857Glu					PLCB2_ENST00000456256.2_Missense_Mutation_p.G857E|PLCB2_ENST00000557821.1_Missense_Mutation_p.G853E	p.G857E	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	24	2819	-		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)	857					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2570G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619318	0.46736	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.20738	2.05;2.05	4.71	1.7	0.24286	.	411.541000	0.00166	N	0.000000	T	0.28101	0.0693	L	0.31926	0.97	0.23113	N	0.998278	D;B;B	0.76494	0.999;0.002;0.0	D;B;B	0.66084	0.941;0.007;0.001	T	0.49735	-0.8908	10	0.02654	T	1	.	4.9786	0.14153	0.0:0.6332:0.1732:0.1936	.	857;853;857	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	E	857	ENSP00000260402:G857E;ENSP00000411991:G857E	ENSP00000260402:G857E	G	-	2	0	PLCB2	38371374	0.004000	0.15560	0.030000	0.17652	0.009000	0.06853	0.053000	0.14184	0.274000	0.22072	-0.424000	0.05967	GGG		0.622	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			22	12	0	0	0	1	0	22	12					T	40584082	C	T	40584082	3	4	354	1	0	0	0	0	1	0	0	0	12028	623	22	2	1023	2	PLCB2	15	40584082	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		40584082	61947310	24	33513											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	14	8	0	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:7578280G>C	ENST00000269305.4	-	6	758	c.569C>G	c.(568-570)cCt>cGt	p.P190R	TP53_ENST00000445888.2_Missense_Mutation_p.P190R|TP53_ENST00000413465.2_Missense_Mutation_p.P190R|TP53_ENST00000359597.4_Missense_Mutation_p.P190R|TP53_ENST00000420246.2_Missense_Mutation_p.P190R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190R	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	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)	ATGCTGAGGAGGGGCCAGACC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(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						c.(568-570)cCt>cGt	Other conserved DNA damage response genes	tumor protein p53							89	80	83					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578280G>C	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.569C>G	17.37:g.7578280G>C	ENSP00000269305:p.Pro190Arg	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)				TP53_ENST00000445888.2_Missense_Mutation_p.P190R|TP53_ENST00000413465.2_Missense_Mutation_p.P190R|TP53_ENST00000455263.2_Missense_Mutation_p.P190R|TP53_ENST00000269305.4_Missense_Mutation_p.P190R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P190R	p.P190R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	701	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	190		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.569C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145497	0.37825	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68728	2.09	0.51767	D	0.999937	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.988;1.0;0.999;1.0;1.0	D;D;P;D;D;D;D	0.91635	0.999;0.971;0.877;0.996;0.989;0.997;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190R;ENSP00000352610:P190R;ENSP00000269305:P190R;ENSP00000398846:P190R;ENSP00000391127:P190R;ENSP00000391478:P190R;ENSP00000425104:P58R;ENSP00000423862:P97R	ENSP00000269305:P190R	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	10	0	0	0	1	0	57	10					C	7578280	G	C	7578280	3	2	354	1	0	0	0	0	1	0	0	0	16378	1000	35	4	725	4	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		7578280	73616930	25	33514											
SLFN12	55106	broad.mit.edu	37	chr17	33738559	33738559	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaattacttgcgaccttAaatcatactggcagcttgtc	8	9	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:33738559A>C	ENST00000394562.1	-	6	2058	c.1535T>G	c.(1534-1536)tTa>tGa	p.L512*	SLFN12_ENST00000452764.3_Nonsense_Mutation_p.L512*|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.L512*			Q8IYM2	SLN12_HUMAN	schlafen family member 12	512							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCGACCTTAAATCATACTG	0.393																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1534-1536)tTa>tGa		schlafen family member 12							77	77	77					17																	33738559		2203	4300	6503	SO:0001587	stop_gained	55106						ATP binding	g.chr17:33738559A>C	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1535T>G	17.37:g.33738559A>C	ENSP00000378063:p.Leu512*					SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Nonsense_Mutation_p.L512*|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.L512*	p.L512*			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2058	-		Ovarian(249;0.17)	512					A8K711|Q9NP47	Nonsense_Mutation	SNP	ENST00000394562.1	37	c.1535T>G	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694445	0.88830	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	.	.	.	2.49	0.443	0.16587	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999951	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	4.4788	0.11757	0.3402:0.0:0.6598:0.0	.	.	.	.	X	512	.	ENSP00000302077:L512X	L	-	2	0	SLFN12	30762672	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.324000	0.19610	0.142000	0.18901	-0.437000	0.05841	TTA		0.393	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		4	92	0	0	0	1	0	4	92					C	33738559	A	C	33738559	4	2	354	1	0	0	0	0	0	1	0	0	14734	372	13	5	205	5	SLFN12	17	33738559	Nonsense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	26160279	33738559	47456651	26	33515											
KRT15	3866	broad.mit.edu	37	chr17	39673389	39673389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgatctccaggatgaccCgggagttgtcgatggtggtg	16	8	1	1	rs200359694		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:39673389C>T	ENST00000254043.3	-	2	4112	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Missense_Mutation_p.R176Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	176	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGGATGACCCGGGAGTTGTC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18916	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(526-528)cGg>cAg		keratin 15							161	149	154					17																	39673389		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673389C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.527G>A	17.37:g.39673389C>T	ENSP00000254043:p.Arg176Gln					KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Missense_Mutation_p.R176Q	p.R176Q	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			2	4112	-		Breast(137;0.000286)	176			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.527G>A	CCDS11398.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.35	2.210216	0.39003	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.89810	-2.57;-2.57	4.86	2.82	0.32997	Filament (1);	0.000000	0.45126	D	0.000386	T	0.80215	0.4582	L	0.33293	1	0.09310	N	0.999998	B	0.23249	0.082	B	0.22753	0.041	T	0.68599	-0.5366	10	0.42905	T	0.14	.	5.8441	0.18652	0.0:0.6297:0.1407:0.2296	.	176	P19012	K1C15_HUMAN	Q	176	ENSP00000254043:R176Q;ENSP00000377546:R176Q	ENSP00000254043:R176Q	R	-	2	0	KRT15	36926915	0.000000	0.05858	0.973000	0.42090	0.882000	0.50991	-0.877000	0.04197	1.276000	0.44395	0.655000	0.94253	CGG		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		60	113	0	0	0	1	0	60	113					T	39673389	C	T	39673389	3	4	354	1	0	0	0	0	1	0	0	0	8452	652	23	1	871	1	KRT15	17	39673389	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	5934830	39673389	41521821	27	33516											
NT5C	30833	broad.mit.edu	37	chr17	73127345	73127345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggtccaggaaaaagCccggggcttcgtacacactg	12	13	0	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:73127345C>T	ENST00000245552.2	-	2	293	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.G69D	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	69					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	CAGGAAAAAGCCCGGGGCTTC	0.652																																						ENST00000245552.2																			0											c.(205-207)gGc>gAc		5', 3'-nucleotidase, cytosolic							37	44	42					17																	73127345		2203	4300	6503	SO:0001583	missense	30833				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding	g.chr17:73127345C>T	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.206G>A	17.37:g.73127345C>T	ENSP00000245552:p.Gly69Asp					NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.G69D	p.G69D	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	293	-	all_lung(278;0.14)|Lung NSC(278;0.168)		69					Q96HS6|Q9NP82	Missense_Mutation	SNP	ENST00000245552.2	37	c.206G>A	CCDS11715.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248742	0.39797	.	.	ENSG00000125458	ENST00000245552	T	0.43294	0.95	4.26	4.26	0.50523	HAD-like domain (2);	0.539186	0.19817	N	0.105420	T	0.47820	0.1466	L	0.61218	1.895	0.80722	D	1	P	0.48640	0.913	P	0.47044	0.535	T	0.51553	-0.8691	10	0.51188	T	0.08	-19.1759	14.0331	0.64629	0.0:1.0:0.0:0.0	.	69	Q8TCD5	NT5C_HUMAN	D	69	ENSP00000245552:G69D	ENSP00000245552:G69D	G	-	2	0	NT5C	70638940	1.000000	0.71417	0.948000	0.38648	0.649000	0.38597	2.155000	0.42301	2.379000	0.81126	0.484000	0.47621	GGC		0.652	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			49	63	0	0	0	1	0	49	63					T	73127345	C	T	73127345	3	4	354	1	0	0	0	0	1	0	0	0	10684	739	26	2	415	2	NT5C	17	73127345	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	33453956	73127345	8067865	28	33517											
DSG4	147409	broad.mit.edu	37	chr18	28993042	28993042	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcagtactgacctcccTttgctcggacctaattactt	5	14	1	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr18:28993042T>A	ENST00000308128.4	+	16	2742	c.2607T>A	c.(2605-2607)ccT>ccA	p.P869P	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.P888P	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	869					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)			CTGACCTCCCTTTGCTCGGAC	0.418																																						ENST00000359747.4																			0				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						c.(2662-2664)ccT>ccA		desmoglein 4							147	137	140					18																	28993042		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993042T>A	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.2607T>A	18.37:g.28993042T>A						RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.P869P|RP11-534N16.1_ENST00000578477.1_RNA	p.P888P	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2693	+			869					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2664T>A	CCDS11897.1																																																																																				0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		71	100	0	0	0	1	0	71	100					A	28993042	T	A	28993042	2	1	354	1	0	0	0	0	0	0	0	1	4779	1596	56	5		5	DSG4	18	28993042	Silent	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		28993042	49084206	29	33518											
TSHZ2	128553	broad.mit.edu	37	chr20	51872176	51872176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagttcaagcacaattTccatgttccacaagtcgaat	6	12	1	0	rs35790657		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:51872176T>C	ENST00000371497.5	+	2	3066	c.2179T>C	c.(2179-2181)Tcc>Ccc	p.S727P	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S724P|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S724P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	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)			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)			AAGCACAATTTCCATGTTCCA	0.562																																						ENST00000371497.5																			0				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						c.(2179-2181)Tcc>Ccc		teashirt zinc finger homeobox 2							79	73	75					20																	51872176		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872176T>C	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.2179T>C	20.37:g.51872176T>C	ENSP00000360552:p.Ser727Pro					TSHZ2_ENST00000603338.2_Missense_Mutation_p.S724P|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S724P	p.S727P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3066	+			727					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2179T>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	8.880	0.951399	0.18431	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.54675	0.56;0.56	5.72	0.926	0.19430	.	0.360898	0.30879	N	0.008698	T	0.34019	0.0883	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14392	-1.0474	10	0.35671	T	0.21	-0.0057	1.61	0.02692	0.1256:0.2041:0.1309:0.5394	.	727	Q9NRE2	TSH2_HUMAN	P	727;724;253	ENSP00000360552:S727P;ENSP00000333114:S724P	ENSP00000333114:S724P	S	+	1	0	TSHZ2	51305583	0.313000	0.24554	0.005000	0.12908	0.869000	0.49853	0.809000	0.27168	-0.100000	0.12241	0.523000	0.50628	TCC		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		35	36	0	0	0	1	0	35	36					C	51872176	T	C	51872176	3	2	354	1	0	0	0	0	1	0	0	0	16621	1783	62	3	2185	3	TSHZ2	20	51872176	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		51872176	11153344	30	33519											
GGT5	2687	broad.mit.edu	37	chr22	24628809	24628809	+	Frame_Shift_Del	DEL	A	A	-													accgcagggttgacgcctgcAaggaaggccgcaggatgctg							TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:24628809delA	ENST00000327365.4	-	4	994	c.578delT	c.(577-579)ttgfs	p.L193fs	GGT5_ENST00000263112.7_Frame_Shift_Del_p.L161fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.L193fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.L117fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	193					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|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(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACGCCTGCAAGGAAGGCCG	0.662																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(577-579)tgfs		gamma-glutamyltransferase 5							32	32	32					22																	24628809		2191	4292	6483	SO:0001589	frameshift_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24628809delA	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.578delT	22.37:g.24628809delA	ENSP00000330080:p.Leu193fs					GGT5_ENST00000398292.3_Frame_Shift_Del_p.L193fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.L161fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.L117fs	p.L193fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			4	994	-			193					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Frame_Shift_Del	DEL	ENST00000327365.4	37	c.578delT	CCDS13825.1																																																																																				0.662	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		2	4						2	4	---	---	---	---	-	24628809	A	-	24628809	7	5	354	1	0	1	0	1	0	0	0	0	6362	131	5	0	1221	0	GGT5	22	24628809	Frame_Shift_Del	DEL	A	TCGA-P5-A5EU-01A-11D-A27K-08		24628809	26675757	31	33520											
LGALS2	3957	broad.mit.edu	37	chr22	37966744	37966744	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagattaattacaaagcTgcaggagaaggggtagcagg	14	7	0	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:37966744T>C	ENST00000215886.4	-	3	264		c.e3-2			NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2								carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ATTACAAAGCTGCAGGAGAAG	0.527																																					GBM(193;1840 2185 13711 20676 24505)	ENST00000215886.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11						c.e3-2		lectin, galactoside-binding, soluble, 2							62	60	61					22																	37966744		2203	4300	6503	SO:0001630	splice_region_variant	3957							g.chr22:37966744T>C		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"Lectins, galactoside-binding"	6562	protein-coding gene	gene with protein product	"galectin 2"	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.90-2A>G	22.37:g.37966744T>C								NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN			3	264	-	Melanoma(58;0.0574)							Q6FGY4	Splice_Site	SNP	ENST00000215886.4	37		CCDS13950.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067227	0.55539	.	.	ENSG00000100079	ENST00000215886	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.81	0.78552	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LGALS2	36296690	1.000000	0.71417	0.298000	0.25002	0.097000	0.18754	5.908000	0.69916	2.326000	0.78906	0.533000	0.62120	.		0.527	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498	Intron	45	59	0	0	0	1	0	45	59					C	37966744	T	C	37966744	5	2	354	1	0	0	0	0	0	0	1	0	8742	1594	55	3	318	3	LGALS2	22	37966744	Splice_Site	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	13337935	37966744	13337822	32	33521											
ATRX	546	broad.mit.edu	37	chrX	76919034	76919035	+	Frame_Shift_Del	DEL	TT	TT	-													gaatctgattcagaattgacTtgattttttgcttctaaatg							TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrX:76919034_76919035delTT	ENST00000373344.5	-	12	4170_4171	c.3956_3957delAA	c.(3955-3957)caafs	p.Q1319fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1281fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1319	Interaction with DAXX.				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						CAGAATTGACTTGATTTTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3955-3957)cfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76919034_76919035delTT	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.3956_3957delAA	X.37:g.76919034_76919035delTT	ENSP00000362441:p.Gln1319fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1281fs|ATRX_ENST00000480283.1_5'UTR	p.Q1319fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4170_4171	-			1319					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3956_3957delAA	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	2						9	2	---	---	---	---	-	76919035	TT	-	76919034	7	5	354	1	0	1	0	1	0	0	0	0	1208	1606	56	0	3617	0	ATRX	23	76919034	Frame_Shift_Del	DEL	TT	TCGA-P5-A5EU-01A-11D-A27K-08		76919034	78351526	33	33522											
NADK	65220	broad.mit.edu	37	chr1	1686109	1686109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccaccctgaccttcagCcgactccggagaacaacagc	7	17	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	ENST00000341426.5	-	8	938	c.717G>A	c.(715-717)cgG>cgA	p.R239R	NADK_ENST00000492768.1_5'Flank|NADK_ENST00000344463.4_Silent_p.R384R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000342348.5_Silent_p.R207R	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	239					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1150-1152)cgG>cgA		NAD kinase							106	103	104					1																	1686109		2203	4300	6503	SO:0001819	synonymous_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1686109C>T	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.717G>A	1.37:g.1686109C>T						NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000341426.5_Silent_p.R239R|NADK_ENST00000342348.5_Silent_p.R207R	p.R384R			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	10	1373	-	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)	239					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Silent	SNP	ENST00000341426.5	37	c.1152G>A	CCDS30565.1																																																																																				0.647	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		5	229	0	0	0	1	0	5	229					T	1686109	C	T	1686109	2	4	355	1	0	0	0	0	0	0	0	1	10137	726	26	2		2	NADK	1	1686109	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1686109	247564512	1	33523											
SFRS4	6429	broad.mit.edu	37	chr1	29476672	29476672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccacttcggcttctgCtcttacgggaatgtctgctt	10	12	3	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:29476672C>G	ENST00000373795.4	-	5	845	c.611G>C	c.(610-612)aGc>aCc	p.S204T	SRSF4_ENST00000466448.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000546138.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	204	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGCTTCTGCTCTTACGGGA	0.458																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(610-612)aGc>aCc		serine/arginine-rich splicing factor 4							199	196	197					1																	29476672		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29476672C>G	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.611G>C	1.37:g.29476672C>G	ENSP00000362900:p.Ser204Thr					SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	p.S204T	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			5	845	-			204			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.611G>C	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819444	0.71028	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.46063	0.88	5.36	5.36	0.76844	.	0.078056	0.85682	D	0.000000	T	0.63046	0.2478	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.63765	-0.6563	10	0.56958	D	0.05	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	204	Q08170	SRSF4_HUMAN	T	204	ENSP00000362900:S204T	ENSP00000362900:S204T	S	-	2	0	SRSF4	29349259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.735000	0.74806	2.668000	0.90789	0.650000	0.86243	AGC		0.458	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		17	191	0	0	0	1	0	17	191					G	29476672	C	G	29476672	3	3	355	1	0	0	0	0	1	0	0	0	14179	797	28	4	881	4	SFRS4	1	29476672	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	27790563	29476672	219773949	2	33524											
MTF1	4520	broad.mit.edu	37	chr1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tggatgcccgctcctttgcaGagtcccggcatgcacactga	11	14	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	ENST00000373036.4	-	11	2062	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	641					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(1921-1923)tCt>tGt		metal-regulatory transcription factor 1							43	43	43					1																	38281148		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38281148G>C	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1922C>G	1.37:g.38281148G>C	ENSP00000362127:p.Ser641Cys						p.S641C	NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN			11	2062	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	641					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1922C>G	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174307	0.78452	.	.	ENSG00000188786	ENST00000373036	T	0.52983	0.64	5.95	5.95	0.96441	.	0.052333	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.68192	0.956	T	0.70572	-0.4835	10	0.87932	D	0	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	641	Q14872	MTF1_HUMAN	C	641	ENSP00000362127:S641C	ENSP00000362127:S641C	S	-	2	0	MTF1	38053735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.482000	0.81143	2.817000	0.96982	0.563000	0.77884	TCT		0.612	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		5	66	0	0	0	1	0	5	66					C	38281148	G	C	38281148	3	2	355	1	0	0	0	0	1	0	0	0	9922	942	33	4	343	4	MTF1	1	38281148	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	8804476	38281148	210969473	3	33525											
MACF1	23499	broad.mit.edu	37	chr1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tattccacctacggaaacttCtatgagtgctaaagagttag	8	8	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	ENST00000372915.3	+	50	13154	c.13067C>G	c.(13066-13068)tCt>tGt	p.S4356C	MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.S4351C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4356					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)			ACGGAAACTTCTATGAGTGCT	0.438																																						ENST00000564288.1																			0				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						c.(13051-13053)tCt>tGt		microtubule-actin crosslinking factor 1							70	70	70					1																	39835815		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39835815C>G	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.13067C>G	1.37:g.39835815C>G	ENSP00000362006:p.Ser4356Cys					MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.S4356C	p.S4351C			Q9UPN3	MACF1_HUMAN	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)		51	13829	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4356					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.13052C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.05|18.05	3.536620|3.536620	0.65085|0.65085	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.37584	.|1.19;1.19;1.19;1.19;1.19;1.19	5.37|5.37	3.04|3.04	0.35103|0.35103	.|.	.|0.519939	.|0.17436	.|N	.|0.174305	T|T	0.46171|0.46171	0.1379|0.1379	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.63046	.|0.965;0.96;0.992;0.984	.|P;P;P;P	.|0.61003	.|0.838;0.819;0.819;0.882	T|T	0.40384|0.40384	-0.9566|-0.9566	5|10	.|0.56958	.|D	.|0.05	.|.	4.8088|4.8088	0.13333|0.13333	0.0:0.5307:0.0:0.4693|0.0:0.5307:0.0:0.4693	.|.	.|4356;2289;2289;2254	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	L|C	1422|2289;4356;2289;2289;2289;2791	.|ENSP00000439537:S2289C;ENSP00000362006:S4356C;ENSP00000354573:S2289C;ENSP00000313438:S2289C;ENSP00000444364:S2289C;ENSP00000289893:S2791C	.|ENSP00000289893:S2791C	F|S	+|+	3|2	2|0	MACF1|MACF1	39608402|39608402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.862000|2.862000	0.48388|0.48388	0.887000|0.887000	0.36136|0.36136	-0.302000|-0.302000	0.09304|0.09304	TTC|TCT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	30	0	0	0	1	0	14	30					G	39835815	C	G	39835815	3	3	355	1	0	0	0	0	1	0	0	0	9144	913	32	4	13199	4	MACF1	1	39835815	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1554667	39835815	209414806	4	33526											
MACF1	23499	broad.mit.edu	37	chr1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcccaatttctgcaaaattgGagcggctacagtctcagcta	9	11	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	ENST00000372915.3	+	57	14581	c.14494G>C	c.(14494-14496)Gag>Cag	p.E4832Q	MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E4827Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4832					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)			TGCAAAATTGGAGCGGCTACA	0.453																																						ENST00000564288.1																			0				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						c.(14479-14481)Gag>Cag		microtubule-actin crosslinking factor 1							125	142	136					1																	39852993		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39852993G>C	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.14494G>C	1.37:g.39852993G>C	ENSP00000362006:p.Glu4832Gln					MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E4832Q	p.E4827Q			Q9UPN3	MACF1_HUMAN	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)		58	15256	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4832					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14479G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.618566|1.618566	0.28801|0.28801	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.093565|.	0.46145|.	D|.	0.000308|.	T|T	0.69486|0.69486	0.3116|0.3116	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D;P;B|.	0.76494|.	0.999;0.749;0.168|.	D;B;B|.	0.75020|.	0.985;0.406;0.137|.	T|T	0.62248|0.62248	-0.6894|-0.6894	10|5	0.39692|.	T|.	0.17|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4832;2765;2709|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|A	2765;4832;2765;2765;2744;3267|1877	ENSP00000439537:E2765Q;ENSP00000362006:E4832Q;ENSP00000354573:E2765Q;ENSP00000313438:E2765Q;ENSP00000444364:E2744Q;ENSP00000289893:E3267Q|.	ENSP00000289893:E3267Q|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39625580|39625580	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.244000|0.244000	0.25665|0.25665	9.609000|9.609000	0.98334|0.98334	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		88	175	0	0	0	1	0	88	175					C	39852993	G	C	39852993	3	2	355	1	0	0	0	0	1	0	0	0	9144	1175	41	4	14654	4	MACF1	1	39852993	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	17178	39852993	209397628	5	33527											
CD58	965	broad.mit.edu	37	chr1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagtgcagcaggcagaCcacgctgaggacccccaggg	14	13	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	ENST00000369489.5	-	1	115	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_ENST00000457047.2_Missense_Mutation_p.V17L|CD58_ENST00000369487.3_Missense_Mutation_p.V17L	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	17					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(49-51)Gtc>Ctc		CD58 molecule							7	12	11					1																	117113546		2135	4192	6327	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117113546C>G	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.49G>C	1.37:g.117113546C>G	ENSP00000358501:p.Val17Leu					CD58_ENST00000369489.5_Missense_Mutation_p.V17L|CD58_ENST00000369487.3_Missense_Mutation_p.V17L	p.V17L	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	1	102	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	17					A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.49G>C	CCDS888.1	.	.	.	.	.	.	.	.	.	.	C	2.369	-0.344834	0.05208	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.22336	1.96;1.96;1.96	1.73	-3.47	0.04753	.	16.472600	0.00166	N	0.000001	T	0.02533	0.0077	L	0.34521	1.04	0.09310	N	1	B;B;B	0.25272	0.103;0.122;0.103	B;B;B	0.25140	0.04;0.036;0.058	T	0.33111	-0.9881	10	0.06099	T	0.92	.	1.9754	0.03415	0.4204:0.3214:0.1372:0.121	.	17;17;17	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	L	17	ENSP00000358501:V17L;ENSP00000409080:V17L;ENSP00000358499:V17L	ENSP00000358499:V17L	V	-	1	0	CD58	116915069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.863000	0.00347	-3.150000	0.00231	-2.699000	0.00136	GTC		0.741	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		3	5	0	0	0	1	0	3	5					G	117113546	C	G	117113546	3	3	355	1	0	0	0	0	1	0	0	0	3025	507	18	4	731	4	CD58	1	117113546	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	77260553	117113546	132137075	6	33528											
ZNF697	90874	broad.mit.edu	37	chr1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggctccgggatatgctgtcaGactcagacagtcctgggaac	13	11	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	ENST00000421812.2	-	3	445	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	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)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622																																						ENST00000421812.2																			0				ovary(2)	2						c.(325-327)tCt>tGt		zinc finger protein 697							50	56	54					1																	120166640		2097	4227	6324	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120166640G>C	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.326C>G	1.37:g.120166640G>C	ENSP00000396857:p.Ser109Cys						p.S109C	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	445	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	109					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.326C>G	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109402	0.20714	.	.	ENSG00000143067	ENST00000421812	T	0.14516	2.5	4.61	4.61	0.57282	.	.	.	.	.	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	P	0.39576	0.679	B	0.40702	0.338	T	0.32161	-0.9917	9	0.29301	T	0.29	.	9.0557	0.36403	0.1022:0.0:0.8978:0.0	.	109	Q5TEC3	ZN697_HUMAN	C	109	ENSP00000396857:S109C	ENSP00000396857:S109C	S	-	2	0	ZNF697	119968163	0.922000	0.31269	0.441000	0.26858	0.072000	0.16883	2.467000	0.45093	2.291000	0.77112	0.563000	0.77884	TCT		0.622	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		13	30	0	0	0	1	0	13	30					C	120166640	G	C	120166640	3	2	355	1	0	0	0	0	1	0	0	0	18097	942	33	4	1315	4	ZNF697	1	120166640	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3053094	120166640	129083981	7	33529											
OAZ3	11022	broad.mit.edu	37	chr1	151742722	151742722	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaacttccagaatgatcGgaacgacagaggtggggatc	14	7	0	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	ENST00000368827.6	-	0	2318				OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R|OAZ3_ENST00000479764.1_Missense_Mutation_p.G3R|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q	NM_006862.3	NP_006853.2	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing						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)			CAGAATGATCGGAACGACAGA	0.473																																						ENST00000479764.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9						c.(7-9)Gga>Aga		ornithine decarboxylase antizyme 3	L-Ornithine(DB00129)						305	308	307					1																	151742722		1965	4164	6129	SO:0001628	intergenic_variant	51686				cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	g.chr1:151742722G>A	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		1.37:g.151742722G>A						OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R|OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q	p.G3R			Q9UMX2	OAZ3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	3523	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		0					D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	ENST00000368827.6	37	c.7G>A	CCDS41394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.086588|4.086588	0.76642|0.76642	.|.	.|.	ENSG00000143450|ENSG00000143450	ENST00000400999|ENST00000315067;ENST00000321531	.|T	.|0.44881	.|0.91	5.43|5.43	3.52|3.52	0.40303|0.40303	.|Acyl-CoA N-acyltransferase (1);	.|0.268702	.|0.26650	.|N	.|0.023201	T|T	0.39682|0.39682	0.1087|0.1087	M|M	0.69823|0.69823	2.125|2.125	0.39035|0.39035	D|D	0.960011|0.960011	.|D;D	.|0.64830	.|0.98;0.994	.|P;P	.|0.55222	.|0.687;0.771	T|T	0.39502|0.39502	-0.9611|-0.9611	6|10	0.87932|0.56958	D|D	0|0.05	-8.7076|-8.7076	7.7737|7.7737	0.29023|0.29023	0.0863:0.1619:0.7518:0.0|0.0863:0.1619:0.7518:0.0	.|.	.|120;137	.|D3DV23;Q9UMX2	.|.;OAZ3_HUMAN	R|Q	3|140;184	.|ENSP00000357820:R140Q	ENSP00000383784:G3R|ENSP00000357820:R140Q	G|R	+|+	1|2	0|0	OAZ3|OAZ3	150009346|150009346	0.465000|0.465000	0.25815|0.25815	0.270000|0.270000	0.24601|0.24601	0.882000|0.882000	0.50991|0.50991	3.442000|3.442000	0.52900|0.52900	0.824000|0.824000	0.34613|0.34613	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.473	TDRKH-002	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000036645.3	NM_006862		11	311	0	0	0	1	0	11	311					A	151742722	G	A	151742722	1	1	355	0	1	0	0	0	0	0	0	0	10806	1116	39	1		1	OAZ3	1	151742722	IGR	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	31576082	151742722	97507899	8	33530											
POU2F1	5451	broad.mit.edu	37	chr1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcacctgtagccagccttCacgccacctccacctctgct	6	20	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	ENST00000541643.3	+	17	2290	c.2128C>G	c.(2128-2130)Cac>Gac	p.H710D	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.H722D|POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	710					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2164-2166)Cac>Gac		POU class 2 homeobox 1							166	156	159					1																	167384943		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167384943C>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2128C>G	1.37:g.167384943C>G	ENSP00000441285:p.His710Asp					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.H710D	p.H722D	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2399	+			710					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2164C>G		.	.	.	.	.	.	.	.	.	.	C	18.02	3.530191	0.64860	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.86497	-2.13;-2.1;-2.12;-2.11;-2.11	5.38	5.38	0.77491	.	2.727660	0.01182	N	0.007111	D	0.83294	0.5223	L	0.47716	1.5	0.42845	D	0.994067	B;B;B;B	0.33103	0.276;0.397;0.397;0.118	B;B;B;B	0.33960	0.025;0.055;0.173;0.025	T	0.68100	-0.5498	9	0.72032	D	0.01	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	670;722;708;710	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	D	733;670;708;710;722	ENSP00000356840:H733D;ENSP00000401217:H670D;ENSP00000356839:H708D;ENSP00000441285:H710D;ENSP00000356836:H722D	ENSP00000356836:H722D	H	+	1	0	POU2F1	165651567	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.181000	0.77682	2.793000	0.96121	0.655000	0.94253	CAC		0.617	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		13	363	0	0	0	1	0	13	363					G	167384943	C	G	167384943	3	3	355	1	0	0	0	0	1	0	0	0	12271	826	29	4	2186	4	POU2F1	1	167384943	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15642221	167384943	81865678	9	33531											
FMN2	56776	broad.mit.edu	37	chr1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggattttagaggcgaaatCgatacagacttcccccacgg	10	10	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					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)			GAGGCGAAATCGATACAGACT	0.572																																						ENST00000319653.9																			0				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						c.(2227-2229)tCg>tTg		formin 2							52	51	52					1																	240370340		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370340C>T	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.2228C>T	1.37:g.240370340C>T	ENSP00000318884:p.Ser743Leu						p.S743L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2458	+	Ovarian(103;0.127)	all_cancers(173;0.013)	743					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2228C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495253	0.26774	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.48201	0.82	5.06	4.13	0.48395	.	0.000000	0.64402	D	0.000016	T	0.66346	0.2780	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.72171	-0.4371	10	0.87932	D	0	.	14.8191	0.70059	0.1451:0.8549:0.0:0.0	.	743	Q9NZ56	FMN2_HUMAN	L	180;743	ENSP00000318884:S743L	ENSP00000318884:S743L	S	+	2	0	FMN2	238436963	1.000000	0.71417	0.722000	0.30670	0.004000	0.04260	6.680000	0.74518	1.325000	0.45301	0.655000	0.94253	TCG		0.572	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	30	0	0	0	1	0	13	30					T	240370340	C	T	240370340	3	4	355	1	0	0	0	0	1	0	0	0	5950	893	31	1	2246	1	FMN2	1	240370340	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	72985397	240370340	8880281	10	33532											
PXDN	7837	broad.mit.edu	37	chr2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agccgctccgtgagctccgtGttcagcagctgcgagggcac	14	14	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	ENST00000252804.4	-	17	3458	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					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)		TGAGCTCCGTGTTCAGCAGCT	0.652																																						ENST00000252804.4																			0				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						c.(3406-3408)aaC>aaG		peroxidasin homolog (Drosophila)							46	56	53					2																	1652144		2063	4220	6283	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652144G>C	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.3408C>G	2.37:g.1652144G>C	ENSP00000252804:p.Asn1136Lys						p.N1136K	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3458	-	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)	1136					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3408C>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139591	0.56936	.	.	ENSG00000130508	ENST00000252804	T	0.67698	-0.28	5.48	3.35	0.38373	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.84846	2.72	0.50171	D	0.999858	D	0.69078	0.997	D	0.71656	0.974	T	0.79645	-0.1717	10	0.72032	D	0.01	-57.6139	6.2788	0.20995	0.3798:0.0:0.6202:0.0	.	1136	Q92626	PXDN_HUMAN	K	1136	ENSP00000252804:N1136K	ENSP00000252804:N1136K	N	-	3	2	PXDN	1631151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.096000	0.41738	1.330000	0.45394	0.650000	0.86243	AAC		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		21	71	0	0	0	1	0	21	71					C	1652144	G	C	1652144	3	2	355	1	0	0	0	0	1	0	0	0	12847	1368	48	4	1059	4	PXDN	2	1652144	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		1652144	241547229	11	33533											
MYCN	4613	broad.mit.edu	37	chr2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggagcgccagcgccgcaacGaccttcggtccagctttctc	11	16	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	ENST00000281043.3	+	3	1483	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	396	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1186-1188)Gac>Cac		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							81	87	85					2																	16086010		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086010G>C	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1186G>C	2.37:g.16086010G>C	ENSP00000281043:p.Asp396His						p.D396H	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1483	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		396			Helix-loop-helix motif.		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1186G>C	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352211	0.82132	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.98028	-4.67	5.14	5.14	0.70334	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99505	1.0954	10	0.72032	D	0.01	-18.8955	18.9941	0.92806	0.0:0.0:1.0:0.0	.	396	P04198	MYCN_HUMAN	H	396;314	ENSP00000281043:D396H	ENSP00000281043:D396H	D	+	1	0	MYCN	16003461	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.792000	0.99085	2.588000	0.87417	0.609000	0.83330	GAC		0.572	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		5	225	0	0	0	1	0	5	225					C	16086010	G	C	16086010	3	2	355	1	0	0	0	0	1	0	0	0	10021	1058	37	4	1192	4	MYCN	2	16086010	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	14433866	16086010	227113363	12	33534											
UCN	7349	broad.mit.edu	37	chr2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagtcgaatatgatgcggttCtgctcggcgcgctcccgctg	14	12	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	ENST00000296099.2	-	2	640	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	114					activation of protein kinase A activity (GO:0034199)|aerobic respiration (GO:0009060)|associative learning (GO:0008306)|drinking behavior (GO:0042756)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell size (GO:0045792)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of gene expression (GO:0010629)|negative regulation of hormone secretion (GO:0046888)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron death (GO:1901215)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|pancreatic juice secretion (GO:0030157)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell growth (GO:0030307)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of translation (GO:0045727)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasodilation (GO:0045909)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|response to pain (GO:0048265)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|perikaryon (GO:0043204)|varicosity (GO:0043196)	histone deacetylase inhibitor activity (GO:0046811)|neuropeptide hormone activity (GO:0005184)			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647																																						ENST00000296099.2																			0				lung(1)|skin(1)	2						c.(340-342)caG>caC		urocortin							27	31	30					2																	27530422		2188	4294	6482	SO:0001583	missense	7349					extracellular region	neuropeptide hormone activity	g.chr2:27530422C>G	AF038633	CCDS1747.1	2p23-p21	2013-02-28			ENSG00000163794	ENSG00000163794		"Endogenous ligands"	12516	protein-coding gene	gene with protein product	"prepro-urocortin"	600945				9628819, 861256	Standard	NM_003353		Approved	UROC, UI	uc002rjp.1	P55089	OTTHUMG00000097068	ENST00000296099.2:c.342G>C	2.37:g.27530422C>G	ENSP00000296099:p.Gln114His						p.Q114H	NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN			2	640	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		114					Q6FG64	Missense_Mutation	SNP	ENST00000296099.2	37	c.342G>C	CCDS1747.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562712	0.65538	.	.	ENSG00000163794	ENST00000296099	.	.	.	4.58	1.73	0.24493	Corticotropin-releasing factor, CRF (2);	0.208986	0.32769	N	0.005667	T	0.32194	0.0821	N	0.25647	0.755	0.35689	D	0.814711	B	0.15473	0.013	B	0.17433	0.018	T	0.15292	-1.0442	9	0.35671	T	0.21	-26.485	3.5084	0.07699	0.2007:0.5902:0.0:0.2092	.	114	P55089	UCN1_HUMAN	H	114	.	ENSP00000296099:Q114H	Q	-	3	2	UCN	27383926	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.630000	0.24553	0.633000	0.30452	0.561000	0.74099	CAG		0.647	UCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214184.2	NM_003353		38	46	0	0	0	1	0	38	46					G	27530422	C	G	27530422	3	3	355	1	0	0	0	0	1	0	0	0	16924	912	32	4	36	4	UCN	2	27530422	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	11444412	27530422	215668951	13	33535											
PSME4	23198	broad.mit.edu	37	chr2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccctgaagaaacaatcGctggccacgtctgtacaata	8	11	1	2	rs369867748		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	ENST00000404125.1	-	28	3219	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1055					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3163-3165)gCg>gTg		proteasome (prosome, macropain) activator subunit 4		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	143	136	138		3164	5.6	1	2		138	0,8600		0,0,4300	no	missense	PSME4	NM_014614.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1055/1844	54128608	1,13005	2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54128608G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3164C>T	2.37:g.54128608G>A	ENSP00000384211:p.Ala1055Val					PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	p.A1055V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		28	3219	-			1055					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3164C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	36	5.828232	0.96996	2.27E-4	0.0	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.28255	1.62;1.68	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.954;0.932	T	0.50499	-0.8821	10	0.35671	T	0.21	.	19.6148	0.95629	0.0:0.0:1.0:0.0	.	430;199;1055	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	V	199;1055	ENSP00000410830:A199V;ENSP00000384211:A1055V	ENSP00000384211:A1055V	A	-	2	0	PSME4	53982112	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.939000	0.87685	2.634000	0.89283	0.557000	0.71058	GCG		0.443	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	114	0	0	0	1	0	8	114					A	54128608	G	A	54128608	3	1	355	1	0	0	0	0	1	0	0	0	12709	1087	38	1	2443	1	PSME4	2	54128608	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26598186	54128608	189070765	14	33536											
ALMS1	7840	broad.mit.edu	37	chr2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA													ctgccatggccgggcgagctINSggaggaggaggaggaggagg					rs55889738|rs72319667|rs200709146|rs61156725|rs70965731|rs193922695|rs3074417	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				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)		p.E27_E28delEE(1)|p.E28_A29insE(1)		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						CCGGGCGAGCTggaggaggagg	0.698																																						ENST00000264448.6																			2	Insertion - In frame(1)|Deletion - In frame(1)	p.E27_E28delEE(1)|p.E28_A29insE(1)	ovary(1)|breast(1)	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						c.(34-36)cga>cGGAga		Alstrom syndrome 1																																				SO:0001652	inframe_insertion	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613031_73613032insGGA	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.72_74dupGGA	2.37:g.73613038_73613040dupGGA	ENSP00000264448:p.Glu28_Glu28dup					ALMS1_ENST00000377715.1_In_Frame_Ins_p.12_12R>RR|ALMS1_ENST00000409009.1_In_Frame_Ins_p.12_12R>RR	p.12_12R>RR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			1	146_147	+			12			Glu-rich.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Ins	INS	ENST00000264448.6	37	c.35_36insGGA	CCDS42697.1																																																																																				0.698	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		3	3						3	3	---	---	---	---	GGA	73613032	-	GGA	73613031	7	5	355	1	0	1	1	0	0	0	0	0	535	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19484423	73613031	169586342	15	33537											
TTN	7273	broad.mit.edu	37	chr2	179615597	179615597	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaattgtagtattggCcataatttcttccagctgtc	6	11	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:179615597C>G	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.A3844P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_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)			GTAGTATTGGCCATAATTTCT	0.373																																						ENST00000360870.5																			0				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						c.(11530-11532)Gcc>Ccc		titin							100	105	103					2																	179615597		2202	4299	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615597C>G	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+2253G>C	2.37:g.179615597C>G						TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	p.A3844P	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11752	-			9679					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	ENST00000591111.1	37	c.11530G>C		.	.	.	.	.	.	.	.	.	.	C	14.25	2.478109	0.44044	.	.	ENSG00000155657	ENST00000360870	T	0.58358	0.34	5.4	0.135	0.14775	.	.	.	.	.	T	0.32941	0.0846	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21552	-1.0242	9	0.44086	T	0.13	.	9.336	0.38051	0.0:0.4602:0.0:0.5398	.	3844	Q8WZ42-6	.	P	3844	ENSP00000354117:A3844P	ENSP00000354117:A3844P	A	-	1	0	TTN	179323842	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.680000	0.25306	0.064000	0.16427	-0.345000	0.07892	GCC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	70	0	0	0	1	0	24	70					G	179615597	C	G	179615597	1	3	355	0	1	0	0	0	0	0	0	0	16732	739	26	4		4	TTN	2	179615597	Intron	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	106002566	179615597	63583776	16	33538											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	33	0	0	0	1	0	23	33					T	209113112	C	T	209113112	3	4	355	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	29497515	209113112	34086261	17	33539											
USP40	55230	broad.mit.edu	37	chr2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaacactaagaaccatgTctccttcccaaaattctaac	3	13	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	ENST00000427112.2	-	13	1780	c.1745A>G	c.(1744-1746)gAc>gGc	p.D582G	USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000251722.6_Missense_Mutation_p.D582G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	582					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1744-1746)gAc>gGc		ubiquitin specific peptidase 40							140	131	134					2																	234434186		1862	4110	5972	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234434186T>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1745A>G	2.37:g.234434186T>C	ENSP00000387898:p.Asp582Gly					USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000427112.2_Missense_Mutation_p.D582G	p.D582G			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	14	1862	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	582					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.1745A>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516955	0.64634	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.08458	3.09;3.09;3.09	5.78	5.78	0.91487	.	2.198680	0.02077	N	0.052030	T	0.19327	0.0464	M	0.66939	2.045	0.58432	D	0.999998	B;B	0.25272	0.074;0.122	B;B	0.26094	0.03;0.066	T	0.29212	-1.0019	10	0.62326	D	0.03	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	582;594	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	G	594;582;582	ENSP00000415434:D594G;ENSP00000251722:D582G;ENSP00000387898:D582G	ENSP00000251722:D582G	D	-	2	0	USP40	234098925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.150000	0.77403	2.200000	0.70718	0.460000	0.39030	GAC		0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		26	64	0	0	0	1	0	26	64					C	234434186	T	C	234434186	3	2	355	1	0	0	0	0	1	0	0	0	17069	1667	58	3	2038	3	USP40	2	234434186	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25321074	234434186	8765187	18	33540											
C2orf85	285093	broad.mit.edu	37	chr2	242815408	242815408	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtcggctgaaccccgggatCtacccgcagcaagtgtgacg	13	13	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:242815408C>G	ENST00000343216.3	+	2	1729	c.1701C>G	c.(1699-1701)atC>atG	p.I567M		NM_173821.2	NP_776182.2																					ACCCCGGGATCTACCCGCAGC	0.647																																						ENST00000343216.3																			0											c.(1699-1701)atC>atG		CXXC finger protein 11							91	101	98					2																	242815408		2023	4089	6112	SO:0001583	missense	285093					integral to membrane		g.chr2:242815408C>G																												ENST00000343216.3:c.1701C>G	2.37:g.242815408C>G	ENSP00000345374:p.Ile567Met						p.I567M	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1729	+			567						Missense_Mutation	SNP	ENST00000343216.3	37	c.1701C>G	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.244245	0.22796	.	.	ENSG00000188011	ENST00000343216	T	0.27720	1.65	1.95	0.564	0.17302	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	P	0.36647	0.563	B	0.23275	0.045	T	0.15292	-1.0442	9	0.49607	T	0.09	.	3.7327	0.08499	0.0:0.6478:0.0:0.3522	.	567	Q14D33	CB085_HUMAN	M	567	ENSP00000345374:I567M	ENSP00000345374:I567M	I	+	3	3	C2orf85	242464081	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.042000	0.12063	0.148000	0.19059	0.186000	0.17326	ATC		0.647	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			12	267	0	0	0	1	0	12	267					G	242815408	C	G	242815408	3	3	355	1	0	0	0	0	1	0	0	0	2200	903	32	4	1707	4	C2orf85	2	242815408	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8381222	242815408	383965	19	33541											
LRRC2	79442	broad.mit.edu	37	chr3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaattctagatttccagaaCaatccagtctctctagattt	4	9	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	ENST00000395905.3	-	5	982	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(589-591)tGt>tTt		leucine rich repeat containing 2							100	103	102					3																	46574300		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46574300C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.590G>T	3.37:g.46574300C>A	ENSP00000379241:p.Cys197Phe					LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	5	982	-		Ovarian(412;0.0563)	197					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.590G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367160	0.41902	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.16743	2.32;2.32	5.41	4.46	0.54185	.	0.314931	0.26995	N	0.021441	T	0.08313	0.0207	N	0.03967	-0.31	0.37025	D	0.896392	B	0.09022	0.002	B	0.10450	0.005	T	0.11155	-1.0599	10	0.72032	D	0.01	.	10.088	0.42430	0.4702:0.5298:0.0:0.0	.	197	Q9BYS8	LRRC2_HUMAN	F	197	ENSP00000379241:C197F;ENSP00000296144:C197F	ENSP00000296144:C197F	C	-	2	0	LRRC2	46549304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.018000	0.57174	1.349000	0.45751	0.563000	0.77884	TGT		0.368	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			5	94	1	0	3.59834e-05	1	3.64507e-05	5	94					A	46574300	C	A	46574300	3	1	355	1	0	0	0	0	1	0	0	0	8976	478	17	4	545	4	LRRC2	3	46574300	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		46574300	151448130	20	33542											
COL7A1	1294	broad.mit.edu	37	chr3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccactcgagcagacaCccgcacagtgtagctaagcc	11	15	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	ENST00000328333.8	-	13	1830	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	575	Fibronectin type-III 4. {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)		CGAGCAGACACCCGCACAGTG	0.612																																						ENST00000328333.8																			0				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						c.(1723-1725)Gtg>Atg		collagen, type VII, alpha 1							137	105	116					3																	48628163		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48628163C>T	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.1723G>A	3.37:g.48628163C>T	ENSP00000332371:p.Val575Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1830	-			575			Fibronectin type-III 4.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1723G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548164	0.45383	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.74106	-0.81;-0.81	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000734	D	0.85818	0.5785	M	0.74881	2.28	0.41839	D	0.990114	D	0.89917	1.0	D	0.91635	0.999	D	0.87262	0.2280	10	0.87932	D	0	.	16.6423	0.85129	0.0:1.0:0.0:0.0	.	575	Q02388	CO7A1_HUMAN	M	575	ENSP00000332371:V575M;ENSP00000412569:V575M	ENSP00000332371:V575M	V	-	1	0	COL7A1	48603167	0.997000	0.39634	0.989000	0.46669	0.923000	0.55619	3.166000	0.50785	2.787000	0.95880	0.650000	0.86243	GTG		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		28	99	0	0	0	1	0	28	99					T	48628163	C	T	48628163	3	4	355	1	0	0	0	0	1	0	0	0	3704	507	18	2	7535	2	COL7A1	3	48628163	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2053863	48628163	149394267	21	33543											
POU1F1	5449	broad.mit.edu	37	chr3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataggaggaaatccatgactCaaggtgtggtcaggaaattt	12	5	2	1	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	ENST00000350375.2	-	3	382	c.258G>C	c.(256-258)ttG>ttC	p.L86F	POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F|POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	86					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)		ATCCATGACTCAAGGTGTGGT	0.413																																						ENST00000350375.2																			0				central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18						c.(256-258)ttG>ttC		POU class 1 homeobox 1							74	79	78					3																	87313619		2203	4299	6502	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87313619C>G	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.258G>C	3.37:g.87313619C>G	ENSP00000263781:p.Leu86Phe					POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F|POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F	p.L86F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	3	382	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	86					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.258G>C	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220799	0.39201	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89681	-2.53;-2.55	5.79	5.79	0.91817	.	0.178986	0.35013	N	0.003515	D	0.88407	0.6428	M	0.64404	1.975	0.41663	D	0.989192	P;P	0.52463	0.953;0.931	P;B	0.49999	0.628;0.444	D	0.84908	0.0846	10	0.19590	T	0.45	.	9.178	0.37123	0.1464:0.7811:0.0:0.0725	.	112;86	P28069-2;P28069	.;PIT1_HUMAN	F	86;112	ENSP00000263781:L86F;ENSP00000342931:L112F	ENSP00000342931:L112F	L	-	3	2	POU1F1	87396309	0.998000	0.40836	0.489000	0.27452	0.088000	0.18126	1.280000	0.33202	2.734000	0.93682	0.655000	0.94253	TTG		0.413	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		29	54	0	0	0	1	0	29	54					G	87313619	C	G	87313619	3	3	355	1	0	0	0	0	1	0	0	0	12269	825	29	4	633	4	POU1F1	3	87313619	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	38685456	87313619	110708811	22	33544											
HGD	3081	broad.mit.edu	37	chr3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgctgggttcctggaGttgggagtgaagtggctctt	17	6	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					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)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(1309-1311)aaC>aaA		homogentisate 1,2-dioxygenase							189	186	187					3																	120347254		2203	4296	6499	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120347254G>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1311C>A	3.37:g.120347254G>T	ENSP00000283871:p.Asn437Lys						p.N437K	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	14	1770	-			437					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1311C>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	G	9.653	1.142054	0.21205	.	.	ENSG00000113924	ENST00000283871	D	0.98978	-5.29	5.02	-4.71	0.03279	Cupin, RmlC-type (1);	0.287715	0.36167	N	0.002741	D	0.95271	0.8466	L	0.41415	1.275	0.34915	D	0.747828	B	0.02656	0.0	B	0.04013	0.001	D	0.86513	0.1811	10	0.18710	T	0.47	-5.4857	7.078	0.25215	0.1867:0.1215:0.573:0.1188	.	437	Q93099	HGD_HUMAN	K	437	ENSP00000283871:N437K	ENSP00000283871:N437K	N	-	3	2	HGD	121829944	0.967000	0.33354	0.778000	0.31720	0.342000	0.28953	0.142000	0.16096	-0.406000	0.07588	-1.264000	0.01445	AAC		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			39	147	1	0	3.09479e-21	1	3.21858e-21	39	147					T	120347254	G	T	120347254	3	4	355	1	0	0	0	0	1	0	0	0	7084	1020	36	4	30	4	HGD	3	120347254	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	33033635	120347254	77675176	23	33545											
PRR23B	389151	broad.mit.edu	37	chr3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtaggcctcttcctgggcgGcgatctctgggacagatgcg	15	12	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	ENST00000329447.5	-	1	710	c.446C>G	c.(445-447)gCc>gGc	p.A149G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	149										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						TTCCTGGGCGGCGATCTCTGG	0.662																																						ENST00000329447.5																			0				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						c.(445-447)gCc>gGc		proline rich 23B							44	50	48					3																	138739058		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739058G>C	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.446C>G	3.37:g.138739058G>C	ENSP00000328768:p.Ala149Gly					MRPS22_ENST00000495075.1_Intron	p.A149G	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	710	-			149					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.446C>G	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379630	0.42207	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.05	-1.11	0.09840	.	1.397330	0.05141	N	0.494315	T	0.55114	0.1900	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.41431	-0.9509	9	0.44086	T	0.13	.	2.6307	0.04943	0.3861:0.0:0.3993:0.2146	.	149	Q6ZRT6	PR23B_HUMAN	G	149	.	ENSP00000328768:A149G	A	-	2	0	PRR23B	140221748	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.192000	0.32150	-0.254000	0.09500	0.456000	0.33151	GCC		0.662	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	93	0	0	0	1	0	6	93					C	138739058	G	C	138739058	3	2	355	1	0	0	0	0	1	0	0	0	12595	1203	42	4	355	4	PRR23B	3	138739058	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	18391804	138739058	59283372	24	33546											
PCDH7	5099	broad.mit.edu	37	chr4	30723437	30723437	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacctgtttgagggtcaggtCatcgtgcttgacatcaacga	12	9	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	ENST00000361762.2	+	1	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_ENST00000543491.1_Silent_p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(391-393)gtC>gtG		protocadherin 7							56	42	47					4																	30723437		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723437C>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.393C>G	4.37:g.30723437C>G						PCDH7_ENST00000543491.1_Silent_p.V131V	p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1401	+			131			Cadherin 1.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.393C>G	CCDS33971.1																																																																																				0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		9	13	0	0	0	1	0	9	13					G	30723437	C	G	30723437	2	3	355	1	0	0	0	0	0	0	0	1	11516	813	29	4		4	PCDH7	4	30723437	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		30723437	160430839	25	33547											
TBC1D1	23216	broad.mit.edu	37	chr4	38091702	38091702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattcttcaacagatactgCtgcttagaatggagaaggaa	9	7	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	ENST00000261439.4	+	13	2555	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_ENST00000508802.1_Silent_p.L828L	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	734					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						ACAGATACTGCTGCTTAGAAT	0.468																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2200-2202)Ctg>Ttg		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							94	88	90					4																	38091702		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38091702C>T	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.2200C>T	4.37:g.38091702C>T						TBC1D1_ENST00000508802.1_Silent_p.L828L	p.L734L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			13	2555	+			734					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.2200C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	9.265	1.044312	0.19748	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.91	5.06	0.68205	.	.	.	.	.	T	0.69682	0.3138	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67098	-0.5756	4	.	.	.	-21.5312	14.496	0.67688	0.0:0.9304:0.0:0.0696	.	.	.	.	V	421	.	.	A	+	2	0	TBC1D1	37768097	1.000000	0.71417	0.919000	0.36401	0.959000	0.62525	5.367000	0.66127	2.793000	0.96121	0.655000	0.94253	GCT		0.468	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		6	130	0	0	0	1	0	6	130					T	38091702	C	T	38091702	2	4	355	1	0	0	0	0	0	0	0	1	15594	796	28	2		2	TBC1D1	4	38091702	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7368265	38091702	153062574	26	33548											
SLC12A7	10723	broad.mit.edu	37	chr5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccggaccggtttgaacccgCcatgatacctgtgaacatgg	11	13	0	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	ENST00000264930.5	-	10	1349	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	436					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTGAACCCGCCATGATACCT	0.557																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1306-1308)Gcg>Ccg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						112	109	110					5																	1079603		2202	4299	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1079603C>G	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1306G>C	5.37:g.1079603C>G	ENSP00000264930:p.Ala436Pro						p.A436P	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		10	1349	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		436					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1306G>C	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222754	0.58668	.	.	ENSG00000113504	ENST00000264930	D	0.98968	-5.28	3.79	3.79	0.43588	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	H	0.97918	4.105	0.80722	D	1	P	0.46952	0.887	P	0.50934	0.654	D	0.99191	1.0870	10	0.87932	D	0	.	14.5571	0.68109	0.0:1.0:0.0:0.0	.	436	Q9Y666	S12A7_HUMAN	P	436	ENSP00000264930:A436P	ENSP00000264930:A436P	A	-	1	0	SLC12A7	1132603	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.269000	0.65542	1.836000	0.53414	0.491000	0.48974	GCG		0.557	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		3	63	0	0	0	1	0	3	63					G	1079603	C	G	1079603	3	3	355	1	0	0	0	0	1	0	0	0	14388	739	26	4	2005	4	SLC12A7	5	1079603	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1079603	179835657	27	33549											
LMBRD2	92255	broad.mit.edu	37	chr5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgccattgtacttgagttCgacggtgtctctgaactgaa	10	9	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	ENST00000296603.4	-	9	1427	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	322						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(964-966)cGa>cAa		LMBR1 domain containing 2							80	77	78					5																	36122537		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36122537C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.965G>A	5.37:g.36122537C>T	ENSP00000296603:p.Arg322Gln						p.R322Q	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1427	-	all_lung(31;0.000146)		322					B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.965G>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860174	0.91433	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.29397	1.57	5.6	5.6	0.85130	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.84585	2.705	0.80722	D	1	P	0.39903	0.694	B	0.30716	0.119	T	0.52571	-0.8558	10	0.59425	D	0.04	-7.2998	19.6061	0.95582	0.0:1.0:0.0:0.0	.	322	Q68DH5	LMBD2_HUMAN	Q	322;216	ENSP00000296603:R322Q	ENSP00000296603:R322Q	R	-	2	0	LMBRD2	36158294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.766000	0.55280	2.600000	0.87896	0.650000	0.86243	CGA		0.408	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		21	37	0	0	0	1	0	21	37					T	36122537	C	T	36122537	3	4	355	1	0	0	0	0	1	0	0	0	8843	884	31	1	1162	1	LMBRD2	5	36122537	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	35042934	36122537	144792723	28	33550											
PCDHA6	56142	broad.mit.edu	37	chr5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacgcgctgcagccgctggaCcacgaggagctagagctgct	14	13	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	ENST00000529310.1	+	1	1686	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_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	524	Cadherin 5. {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)			AGCCGCTGGACCACGAGGAGC	0.687																																						ENST00000529310.1																			0				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						c.(1570-1572)gaC>gaG									68	80	76					5																	140209248		2202	4293	6495	SO:0001583	missense	0							g.chr5:140209248C>G	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.1572C>G	5.37:g.140209248C>G	ENSP00000433378:p.Asp524Glu					PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.D524E	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1686	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1572C>G	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525374	0.44969	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.63255	-0.03;-0.03	3.68	2.79	0.32731	Cadherin (5);Cadherin-like (1);	0.000000	0.38326	U	0.001737	D	0.83367	0.5239	H	0.96720	3.87	0.26481	N	0.975102	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.74604	-0.3610	10	0.87932	D	0	.	9.6916	0.40131	0.0:0.828:0.0:0.172	.	524;524;524	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	E	524	ENSP00000433378:D524E;ENSP00000434113:D524E	ENSP00000434113:D524E	D	+	3	2	PCDHA6	140189432	0.714000	0.27936	1.000000	0.80357	0.571000	0.35966	0.291000	0.18994	2.056000	0.61249	0.306000	0.20318	GAC		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		87	213	0	0	0	1	0	87	213					G	140209248	C	G	140209248	3	3	355	1	0	0	0	0	1	0	0	0	11528	506	18	4	1574	4	PCDHA6	5	140209248	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	104086711	140209248	40706012	29	33551											
PCDHA10	56139	broad.mit.edu	37	chr5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatcccgtttcgcgtggggCtgtacacgggcgagatcagt	15	11	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	ENST00000307360.5	+	1	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	625	Cadherin 6. {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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1873-1875)Ctg>Gtg									72	77	75					5																	140237506		1324	2291	3615	SO:0001583	missense	0							g.chr5:140237506C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1873C>G	5.37:g.140237506C>G	ENSP00000304234:p.Leu625Val					PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.L625V	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1873	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1873C>G	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639841	0.29157	.	.	ENSG00000250120	ENST00000307360	T	0.50813	0.73	3.68	2.8	0.32819	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63177	0.2489	M	0.79614	2.46	0.09310	N	0.999996	D;P	0.61080	0.989;0.6	P;B	0.58721	0.844;0.363	T	0.53337	-0.8453	9	0.59425	D	0.04	.	11.8505	0.52410	0.0:0.9077:0.0:0.0923	.	625;625	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	625	ENSP00000304234:L625V	ENSP00000304234:L625V	L	+	1	2	PCDHA10	140217690	0.000000	0.05858	0.997000	0.53966	0.803000	0.45373	-0.070000	0.11523	2.041000	0.60428	0.491000	0.48974	CTG		0.632	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		13	49	0	0	0	1	0	13	49					G	140237506	C	G	140237506	3	3	355	1	0	0	0	0	1	0	0	0	11520	796	28	4	1875	4	PCDHA10	5	140237506	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	28258	140237506	40677754	30	33552											
FAM71B	153745	broad.mit.edu	37	chr5	156593086	156593086	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactctcctctgttgtacaAttgtcgttgcaggtccccca	8	13	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	ENST00000302938.4	-	1	189	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	32						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)			CTGTTGTACAATTGTCGTTGC	0.403																																						ENST00000302938.4																			0				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						c.(94-96)Ttg>Ctg		family with sequence similarity 71, member B							143	137	139					5																	156593086		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156593086A>G		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.94T>C	5.37:g.156593086A>G							p.L32L	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	189	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	32					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.94T>C	CCDS4335.1																																																																																				0.403	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		4	123	0	0	0	1	0	4	123					G	156593086	A	G	156593086	2	3	355	1	0	0	0	0	0	0	0	1	5608	98	4	3		3	FAM71B	5	156593086	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	16355580	156593086	24322174	31	33553											
BTNL8	79908	broad.mit.edu	37	chr5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggcctattttttgGcattgttggactgaagattt	11	6	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	ENST00000340184.4	+	4	955	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A|BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000231229.4_Missense_Mutation_p.G250A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(748-750)gGc>gCc		butyrophilin-like 8							234	242	239					5																	180374587		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180374587G>C	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.749G>C	5.37:g.180374587G>C	ENSP00000342197:p.Gly250Ala					BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A|BTNL8_ENST00000340184.4_Missense_Mutation_p.G250A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A	p.G250A	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	983	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	250					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.749G>C	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059642	0.01950	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.58506	4.95;1.4;0.74;4.95;0.74;0.33;0.36	1.33	-0.896	0.10557	.	.	.	.	.	T	0.33962	0.0881	L	0.38175	1.15	0.09310	N	1	B;P;P;P;B	0.47762	0.363;0.765;0.9;0.787;0.012	B;B;B;B;B	0.37387	0.096;0.157;0.208;0.248;0.006	T	0.23547	-1.0185	9	0.15952	T	0.53	.	1.9118	0.03289	0.2274:0.0:0.4567:0.3159	.	125;134;250;250;250	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	A	250;250;125;250;134;43;66	ENSP00000231229:G250A;ENSP00000342197:G250A;ENSP00000383543:G125A;ENSP00000424585:G250A;ENSP00000425207:G134A;ENSP00000427441:G43A;ENSP00000435098:G66A	ENSP00000231229:G250A	G	+	2	0	BTNL8	180307193	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.977000	0.03782	-0.322000	0.08615	0.436000	0.28706	GGC		0.458	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		108	168	0	0	0	1	0	108	168					C	180374587	G	C	180374587	3	2	355	1	0	0	0	0	1	0	0	0	1567	1203	42	4	789	4	BTNL8	5	180374587	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	23781501	180374587	540673	32	33554											
NUP153	9972	broad.mit.edu	37	chr6	17629745	17629745	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgaggaggctgctgagttCgaagatgaggaagatgtgtc	17	4	0	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					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)			CTGCTGAGTTCGAAGATGAGG	0.388																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2683-2685)tcG>tcA		nucleoporin 153kDa							62	67	65					6																	17629745		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629745C>T	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.2685G>A	6.37:g.17629745C>T						NUP153_ENST00000537253.1_Silent_p.S926S	p.S895S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	2684	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	895					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.2685G>A	CCDS4541.1																																																																																				0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			32	40	0	0	0	1	0	32	40					T	17629745	C	T	17629745	2	4	355	1	0	0	0	0	0	0	0	1	10755	871	31	1		1	NUP153	6	17629745	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		17629745	153485322	33	33555											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcggtaacggtgaggCtttttcacgccgccggtagc	15	13	1	1	rs199651736		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	ENST00000244661.2	-	1	113	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	38					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(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(112-114)aaG>aaC		histone cluster 1, H3b							56	70	65					6																	26032175		2200	4296	6496	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032175C>G	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.114G>C	6.37:g.26032175C>G	ENSP00000244661:p.Lys38Asn						p.K38N	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	113	-			38					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.114G>C	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	11.61	1.689098	0.29962	.	.	ENSG00000124693	ENST00000244661	T	0.49432	0.78	5.05	2.29	0.28610	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.30686	N	0.751885	.	.	.	.	.	.	T	0.19160	-1.0314	6	0.87932	D	0	.	8.0631	0.30644	0.0:0.682:0.0:0.318	.	.	.	.	N	38	ENSP00000244661:K38N	ENSP00000244661:K38N	K	-	3	2	HIST1H3B	26140154	1.000000	0.71417	0.981000	0.43875	0.044000	0.14063	1.269000	0.33074	0.250000	0.21479	-0.258000	0.10820	AAG		0.642	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		7	240	0	0	0	1	0	7	240					G	26032175	C	G	26032175	3	3	355	1	0	0	0	0	1	0	0	0	7156	796	28	4	300	4	HIST1H3B	6	26032175	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8402430	26032175	145082892	34	33556											
RUNX2	860	broad.mit.edu	37	chr6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C													agcaccagccggcgcttcagINSccccccctccagcagcctgc					rs397515538		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	ENST00000371438.1	+	2	441_442	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.SP28fs|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.SP28fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	28					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(82-84)accfs		runt-related transcription factor 2																																				SO:0001589	frameshift_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390354_45390355insC	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.90dupC	6.37:g.45390361_45390361dupC	ENSP00000360493:p.Ser28fs					RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.T96fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.T96fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.T14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.T28fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.T14fs	p.T28fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	441_442	+			28					O14614|O14615|O95181	Frame_Shift_Ins	INS	ENST00000371438.1	37	c.83_84insC	CCDS43467.2																																																																																				0.649	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		39	181						39	181	---	---	---	---	C	45390355	-	C	45390354	7	5	355	1	0	1	1	0	0	0	0	0	13748	971	34	0	105	0	RUNX2	6	45390354	Frame_Shift_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19358179	45390354	125724713	35	33557											
GPR116	221395	broad.mit.edu	37	chr6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgagaaccggcatagcttCtggatgactttccccggctc	10	12	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	ENST00000283296.7	-	15	2340	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H|GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	684					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2050-2052)caG>caC		G protein-coupled receptor 116							94	90	91					6																	46830772		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830772C>G	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2052G>C	6.37:g.46830772C>G	ENSP00000283296:p.Gln684His					GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H|GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H	p.Q684H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2340	-			684					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2052G>C	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313320	0.60414	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27720	1.68;2.06;1.69;1.68;1.65	5.33	3.56	0.40772	.	0.329841	0.26196	N	0.025767	T	0.30293	0.0760	M	0.72118	2.19	0.28942	N	0.890921	D;P;D;D;D	0.61080	0.989;0.9;0.958;0.978;0.958	P;P;P;P;P	0.59221	0.804;0.593;0.701;0.854;0.701	T	0.11275	-1.0594	10	0.51188	T	0.08	-4.1437	7.7078	0.28661	0.0:0.7418:0.0:0.2582	.	113;239;684;542;684	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	H	684;684;684;542;55;684;113	ENSP00000283296:Q684H;ENSP00000354563:Q684H;ENSP00000412866:Q542H;ENSP00000265417:Q684H;ENSP00000441581:Q113H	ENSP00000265417:Q684H	Q	-	3	2	GPR116	46938731	0.662000	0.27439	0.989000	0.46669	0.787000	0.44495	0.614000	0.24314	0.755000	0.32990	0.655000	0.94253	CAG		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		35	60	0	0	0	1	0	35	60					G	46830772	C	G	46830772	3	3	355	1	0	0	0	0	1	0	0	0	6633	912	32	4	2016	4	GPR116	6	46830772	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1440418	46830772	124284295	36	33558											
CTGF	1490	broad.mit.edu	37	chr6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-													aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag					rs6934749		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	ENST00000367976.3	-	2	419	c.219delA	c.(217-219)ccafs	p.P73fs	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				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)		GCGGGTCGCATGGGTCGCGCT	0.716																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(217-219)ccfs		connective tissue growth factor							6	8	7					6																	132271980		2100	4127	6227	SO:0001589	frameshift_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271980delT	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.219delA	6.37:g.132271980delT	ENSP00000356954:p.Pro73fs						p.P73fs	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	2	419	-	Breast(56;0.0602)		73			IGFBP N-terminal.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Frame_Shift_Del	DEL	ENST00000367976.3	37	c.219delA	CCDS5151.1																																																																																				0.716	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		2	4						2	4	---	---	---	---	-	132271980	T	-	132271980	7	5	355	1	0	1	0	1	0	0	0	0	4008	1451	51	0	846	0	CTGF	6	132271980	Frame_Shift_Del	DEL	T	TCGA-P5-A5EV-01A-11D-A27K-08	85441208	132271980	38843087	37	33559											
UTRN	7402	broad.mit.edu	37	chr6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctaatgggtcttttctcactGatagcagctccaccacagga	8	12	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	ENST00000367545.3	+	68	9640	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H	UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3214					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)		TTTTCTCACTGATAGCAGCTC	0.423																																						ENST00000367545.3																			0				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						c.(9640-9642)Gat>Cat		utrophin							99	91	94					6																	145149966		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145149966G>C	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.9640G>C	6.37:g.145149966G>C	ENSP00000356515:p.Asp3214His					UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	p.D3214H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	68	9640	+		Ovarian(120;0.218)	3214					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9640G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503868	0.85176	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.67	5.67	0.87782	.	0.000000	0.52532	D	0.000067	D	0.91185	0.7223	M	0.82517	2.595	0.53005	D	0.999966	P	0.42203	0.773	P	0.55615	0.78	D	0.91481	0.5204	10	0.72032	D	0.01	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	3214	P46939	UTRO_HUMAN	H	3214;769;160;173;160;126	ENSP00000356515:D3214H;ENSP00000356496:D769H;ENSP00000398923:D173H;ENSP00000404205:D160H;ENSP00000387927:D126H	ENSP00000356496:D769H	D	+	1	0	UTRN	145191659	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	8.682000	0.91232	2.659000	0.90383	0.655000	0.94253	GAT		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			5	28	0	0	0	1	0	5	28					C	145149966	G	C	145149966	3	2	355	1	0	0	0	0	1	0	0	0	17100	1290	45	4	9910	4	UTRN	6	145149966	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	12877986	145149966	25965101	38	33560											
UTRN	7402	broad.mit.edu	37	chr6	145149992	145149992	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agctccaccacaggaagtgtGtaagtaaatcatgaaattag	9	7	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	ENST00000367545.3	+	68	9665		c.e68+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						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)		CAGGAAGTGTGTAAGTAAATC	0.423																																						ENST00000367545.3																			0				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						c.e68+1		utrophin							83	77	79					6																	145149992		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145149992G>C	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.9665+1G>C	6.37:g.145149992G>C						UTRN_ENST00000367526.4_Splice_Site		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	68	9665	+		Ovarian(120;0.218)						Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37		CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704452	0.88924	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000417142;ENST00000455022	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	145191685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.682000	0.91232	2.659000	0.90383	0.655000	0.94253	.		0.423	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	3	25	0	0	0	1	0	3	25					C	145149992	G	C	145149992	5	2	355	1	0	0	0	0	0	0	1	0	17100	1391	48	4	9936	4	UTRN	6	145149992	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26	145149992	25965075	39	33561											
FOXK1	221937	broad.mit.edu	37	chr7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggggtccttttggcgaataGaccctgcctctgaagccaag	12	11	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	ENST00000328914.4	+	5	1144	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1144-1146)Gac>Cac		forkhead box K1							86	93	91					7																	4796718		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796718G>C	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1144G>C	7.37:g.4796718G>C	ENSP00000328720:p.Asp382His					FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	p.D382H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1144	+		Ovarian(82;0.0175)	382						Missense_Mutation	SNP	ENST00000328914.4	37	c.1144G>C	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034601	0.93575	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95949	-3.86;-3.86	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97337	0.9954	10	0.72032	D	0.01	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	382;219	P85037;P85037-2	FOXK1_HUMAN;.	H	219;146;382;265	ENSP00000394442:D219H;ENSP00000328720:D382H	ENSP00000328720:D382H	D	+	1	0	FOXK1	4763244	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.826000	0.99387	2.735000	0.93741	0.655000	0.94253	GAC		0.572	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			5	198	0	0	0	1	0	5	198					C	4796718	G	C	4796718	3	2	355	1	0	0	0	0	1	0	0	0	6014	942	33	4	1162	4	FOXK1	7	4796718	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		4796718	154341945	40	33562											
ADCY1	107	broad.mit.edu	37	chr7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgaaaactcataacatcGaaaccttttttattgtgcca	4	9	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	ENST00000297323.7	+	7	1436	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	472					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)	TCATAACATCGAAACCTTTTT	0.483																																						ENST00000297323.7																			0				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						c.(1414-1416)Gaa>Aaa		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						169	149	155					7																	45699747		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45699747G>A	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.1414G>A	7.37:g.45699747G>A	ENSP00000297323:p.Glu472Lys					ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	p.E472K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			7	1436	+			472					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1414G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362747	0.41902	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.81330	-1.48;-1.48	5.5	3.63	0.41609	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.052090	0.85682	N	0.000000	T	0.59865	0.2225	N	0.16266	0.395	0.58432	D	0.999998	P;B	0.46277	0.875;0.251	B;B	0.38106	0.265;0.04	T	0.55742	-0.8093	10	0.10377	T	0.69	.	8.6348	0.33941	0.2001:0.0:0.7999:0.0	.	472;247	Q08828;C9J1J0	ADCY1_HUMAN;.	K	247;472;472	ENSP00000392721:E247K;ENSP00000297323:E472K	ENSP00000297323:E472K	E	+	1	0	ADCY1	45666272	1.000000	0.71417	0.642000	0.29436	0.508000	0.34012	7.299000	0.78831	0.612000	0.30071	0.551000	0.68910	GAA		0.483	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	48	0	0	0	1	0	17	48					A	45699747	G	A	45699747	3	1	355	1	0	0	0	0	1	0	0	0	292	1059	37	1	1440	1	ADCY1	7	45699747	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40903029	45699747	113438916	41	33563											
ADAM22	53616	broad.mit.edu	37	chr7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcttagaacacaggtgtcttCctgtggcttctttcaacttt	8	10	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	ENST00000265727.7	+	23	2087	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398204.4_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	670	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2008-2010)Cct>Gct		ADAM metallopeptidase domain 22							153	138	143					7																	87792427		1868	4100	5968	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792427C>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2008C>G	7.37:g.87792427C>G	ENSP00000265727:p.Pro670Ala					ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A|ADAM22_ENST00000265727.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A	p.P670A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2331	+	Esophageal squamous(14;0.00202)		670			Cys-rich.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2008C>G	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114349	0.56505	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.42131	4.52;4.52;4.52;4.54;4.54;4.52;0.98	5.83	5.83	0.93111	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.58101	1.795	0.80722	D	1	P;P;P;P	0.39809	0.689;0.601;0.466;0.627	B;B;B;B	0.42771	0.397;0.352;0.191;0.132	T	0.45614	-0.9249	10	0.66056	D	0.02	.	12.9347	0.58307	0.0:0.9219:0.0:0.0781	.	722;670;670;670	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	A	670;670;670;670;670;637;28	ENSP00000381262:P670A;ENSP00000381260:P670A;ENSP00000265727:P670A;ENSP00000315900:P670A;ENSP00000381267:P670A;ENSP00000381261:P637A;ENSP00000396233:P28A	ENSP00000265727:P670A	P	+	1	0	ADAM22	87630363	0.998000	0.40836	1.000000	0.80357	0.835000	0.47333	3.789000	0.55454	2.752000	0.94435	0.650000	0.86243	CCT		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		35	96	0	0	0	1	0	35	96					G	87792427	C	G	87792427	3	3	355	1	0	0	0	0	1	0	0	0	244	855	30	4	2098	4	ADAM22	7	87792427	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	42092680	87792427	71346236	42	33564											
COL1A2	1278	broad.mit.edu	37	chr7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catagggtaatcctggagcaAacggccttactggtgccaag	12	10	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	ENST00000297268.6	+	18	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	303					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)	TCCTGGAGCAAACGGCCTTAC	0.433										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				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						c.(907-909)Aac>Tac		collagen, type I, alpha 2	Collagenase(DB00048)						140	145	143					7																	94038891		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038891A>T	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.907A>T	7.37:g.94038891A>T	ENSP00000297268:p.Asn303Tyr	HNSCC(75;0.22)					p.N303Y	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	1378	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		303					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.907A>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902283	0.33628	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.83992	-1.79	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	L	0.46157	1.445	0.58432	D	0.99999	D	0.54964	0.969	P	0.55391	0.775	D	0.87537	0.2456	10	0.87932	D	0	.	16.3349	0.83056	1.0:0.0:0.0:0.0	.	303	P08123	CO1A2_HUMAN	Y	303;304	ENSP00000297268:N303Y	ENSP00000297268:N303Y	N	+	1	0	COL1A2	93876827	1.000000	0.71417	0.991000	0.47740	0.120000	0.20174	5.348000	0.66004	2.324000	0.78689	0.533000	0.62120	AAC		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		4	118	0	0	0	1	0	4	118					T	94038891	A	T	94038891	3	4	355	1	0	0	0	0	1	0	0	0	3678	14	1	5	977	5	COL1A2	7	94038891	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	6246464	94038891	65099772	43	33565											
CYP3A4	1576	broad.mit.edu	37	chr7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcattcaccaccatgtcaaGatactccatctgtagcacag	5	13	4	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	ENST00000336411.2	-	11	1249	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	CYP3A4_ENST00000354593.2_Missense_Mutation_p.L206V	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	356					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	ACCATGTCAAGATACTCCATC	0.398																																						ENST00000354593.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(616-618)Ctt>Gtt		cytochrome P450, family 3, subfamily A, polypeptide 4	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						133	117	122					7																	99359851		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99359851G>C	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"Cytochrome P450s"	2637	protein-coding gene	gene with protein product		124010	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1066C>G	7.37:g.99359851G>C	ENSP00000337915:p.Leu356Val					CYP3A4_ENST00000336411.2_Missense_Mutation_p.L356V	p.L206V			P08684	CP3A4_HUMAN			6	719	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		356					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.616C>G	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620273	0.46736	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.76316	-1.01;-1.01	4.35	2.45	0.29901	.	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.93241	3.395	0.53005	D	0.999966	D;D;D;D;D	0.71674	0.992;0.998;0.997;0.997;0.997	P;D;D;D;D	0.72625	0.882;0.978;0.92;0.92;0.92	D	0.84438	0.0581	10	0.87932	D	0	.	2.4234	0.04454	0.1082:0.193:0.5:0.1988	.	206;283;356;356;356	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	V	206;356	ENSP00000346607:L206V;ENSP00000337915:L356V	ENSP00000337915:L356V	L	-	1	0	CYP3A4	99197787	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	3.029000	0.49712	0.755000	0.32990	0.561000	0.74099	CTT		0.398	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			5	86	0	0	0	1	0	5	86					C	99359851	G	C	99359851	3	2	355	1	0	0	0	0	1	0	0	0	4178	942	33	4	457	4	CYP3A4	7	99359851	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5320960	99359851	59778812	44	33566											
GIGYF1	64599	broad.mit.edu	37	chr7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggccccccatacctgctgaCcagctggagaaactgctggt	11	14	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	ENST00000275732.5	-	14	2932	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	575	Gln-rich.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1723-1725)Gtc>Ctc		GRB10 interacting GYF protein 1							15	18	17					7																	100281867		2202	4296	6498	SO:0001583	missense	64599							g.chr7:100281867C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1723G>C	7.37:g.100281867C>G	ENSP00000275732:p.Val575Leu						p.V575L	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			14	2932	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		575			Gln-rich.		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1723G>C	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	1.690	-0.504292	0.04261	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.81499	-1.5	4.52	3.55	0.40652	.	0.896444	0.09177	N	0.837980	T	0.47563	0.1452	N	0.00771	-1.2	0.31430	N	0.673232	B	0.12630	0.006	B	0.13407	0.009	T	0.55909	-0.8066	10	0.07175	T	0.84	-15.7173	5.3083	0.15815	0.0:0.7724:0.0:0.2276	.	575	O75420	PERQ1_HUMAN	L	294;575	ENSP00000275732:V575L	ENSP00000275732:V575L	V	-	1	0	GIGYF1	100119803	1.000000	0.71417	0.998000	0.56505	0.379000	0.30106	2.416000	0.44644	2.354000	0.79902	0.313000	0.20887	GTC		0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		25	18	0	0	0	1	0	25	18					G	100281867	C	G	100281867	3	3	355	1	0	0	0	0	1	0	0	0	6377	507	18	4	1428	4	GIGYF1	7	100281867	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	922016	100281867	58856796	45	33567											
SLC26A3	1811	broad.mit.edu	37	chr7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgttaccttttgtagaggcGccaggagaaatccaatggct	12	8	0	2	rs200724013		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	ENST00000340010.5	-	11	1482	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	433					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						TTGTAGAGGCGCCAGGAGAAA	0.413																																						ENST00000340010.5																			0				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						c.(1297-1299)gCg>gAg		solute carrier family 26 (anion exchanger), member 3							87	86	86					7																	107423255		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423255G>T	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.1298C>A	7.37:g.107423255G>T	ENSP00000345873:p.Ala433Glu					SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	p.A433E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			11	1482	-			433						Missense_Mutation	SNP	ENST00000340010.5	37	c.1298C>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	0.825	-0.747404	0.03065	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92647	-3.08;-3.08	6.07	-0.901	0.10540	Sulphate transporter (1);	0.681821	0.15500	N	0.259095	T	0.71324	0.3326	N	0.00380	-1.58	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.57860	-0.7738	10	0.02654	T	1	.	19.0709	0.93136	0.0:0.0:0.6449:0.3551	.	398;433	G5E9U3;P40879	.;S26A3_HUMAN	E	398;433	ENSP00000415817:A398E;ENSP00000345873:A433E	ENSP00000345873:A433E	A	-	2	0	SLC26A3	107210491	0.767000	0.28508	0.025000	0.17156	0.576000	0.36127	1.035000	0.30216	-0.362000	0.08113	-0.256000	0.11100	GCG		0.413	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		9	140	1	0	0.010729	1	0.0107983	9	140					T	107423255	G	T	107423255	3	4	355	1	0	0	0	0	1	0	0	0	14518	1087	38	4	1040	4	SLC26A3	7	107423255	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	7141388	107423255	51715408	46	33568											
EXOC4	60412	broad.mit.edu	37	chr7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgcatcagtgagtctggcatCaagaaaatgtgtaggaacat	11	7	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	ENST00000253861.4	+	17	2630	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	867					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2599-2601)atC>atG		exocyst complex component 4							79	66	70					7																	133692502		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133692502C>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2601C>G	7.37:g.133692502C>G	ENSP00000253861:p.Ile867Met					EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M	p.I867M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			17	2630	+		Esophageal squamous(399;0.129)	867					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2601C>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031567	0.75504	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	L	0.45137	1.4	0.54753	D	0.999985	D;D;D	0.58268	0.958;0.982;0.972	P;P;P	0.58873	0.847;0.847;0.647	T	0.69331	-0.5173	9	0.66056	D	0.02	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	399;477;867	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	M	867;486;766;477;155	.	ENSP00000253861:I867M	I	+	3	3	EXOC4	133343042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.239000	0.51360	2.569000	0.86673	0.591000	0.81541	ATC		0.522	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		10	51	0	0	0	1	0	10	51					G	133692502	C	G	133692502	3	3	355	1	0	0	0	0	1	0	0	0	5306	816	29	4	2676	4	EXOC4	7	133692502	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26269247	133692502	25446161	47	33569											
TAS2R4	50832	broad.mit.edu	37	chr7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgtacatcacgcttagCcaggcatcaccttttcctga	7	14	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	ENST00000247881.2	+	1	500	c.453C>G	c.(451-453)agC>agG	p.S151R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	151					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(451-453)agC>agG		taste receptor, type 2, member 4							239	225	230					7																	141478741		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478741C>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.453C>G	7.37:g.141478741C>G	ENSP00000247881:p.Ser151Arg					SSBP1_ENST00000465582.1_Intron	p.S151R	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	500	+	Melanoma(164;0.0171)		151					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.453C>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.116584	0.00349	.	.	ENSG00000127364	ENST00000247881	T	0.00768	5.72	5.37	3.29	0.37713	.	1.028080	0.07689	N	0.938445	T	0.00580	0.0019	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.43114	-0.9411	10	0.10902	T	0.67	.	11.8691	0.52511	0.7486:0.2514:0.0:0.0	.	151	Q9NYW5	TA2R4_HUMAN	R	151	ENSP00000247881:S151R	ENSP00000247881:S151R	S	+	3	2	TAS2R4	141125210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.070000	0.11523	0.594000	0.29761	0.632000	0.83419	AGC		0.468	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			7	342	0	0	0	1	0	7	342					G	141478741	C	G	141478741	3	3	355	1	0	0	0	0	1	0	0	0	15574	738	26	4	455	4	TAS2R4	7	141478741	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7786239	141478741	17659922	48	33570											
CDH17	1015	broad.mit.edu	37	chr8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatatctacctggtaaagAaacaatgccttccaagggtg	9	8	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	ENST00000027335.3	-	16	2399	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_ENST00000441892.2_Missense_Mutation_p.S545P|CDH17_ENST00000450165.2_Missense_Mutation_p.S759P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	759	Cadherin 7. {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)			CCTGGTAAAGAAACAATGCCT	0.493																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2275-2277)Tct>Cct		cadherin 17, LI cadherin (liver-intestine)							132	129	130					8																	95143113		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95143113A>G	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.2275T>C	8.37:g.95143113A>G	ENSP00000027335:p.Ser759Pro					CDH17_ENST00000450165.2_Missense_Mutation_p.S759P|CDH17_ENST00000441892.2_Missense_Mutation_p.S545P	p.S759P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		16	2399	-	Breast(36;4.65e-06)		759			Cadherin 7.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.2275T>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519717	0.27211	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.38401	1.14;1.14;1.14	5.84	0.149	0.14863	Cadherin (1);Cadherin-like (1);	1.023300	0.07785	N	0.954017	T	0.31606	0.0802	L	0.41492	1.28	0.09310	N	0.999994	D;P	0.57257	0.979;0.536	P;B	0.47470	0.548;0.189	T	0.21724	-1.0237	10	0.27082	T	0.32	-0.1132	5.9395	0.19186	0.4382:0.1443:0.0:0.4175	.	545;759	E7EN24;Q12864	.;CAD17_HUMAN	P	759;545;759	ENSP00000027335:S759P;ENSP00000392811:S545P;ENSP00000401468:S759P	ENSP00000027335:S759P	S	-	1	0	CDH17	95212289	0.303000	0.24463	0.028000	0.17463	0.114000	0.19823	0.413000	0.21148	-0.190000	0.10465	0.482000	0.46254	TCT		0.493	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		5	114	0	0	0	1	0	5	114					G	95143113	A	G	95143113	3	3	355	1	0	0	0	0	1	0	0	0	3102	246	9	3	235	3	CDH17	8	95143113	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		95143113	51220909	49	33571											
VPS13B	157680	broad.mit.edu	37	chr8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcatctgtagttacttgtctCaaagcatagaactaaaagtc	6	8	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	ENST00000358544.2	+	45	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2739					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)			TTACTTGTCTCAAAGCATAGA	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(8215-8217)Caa>Gaa		vacuolar protein sorting 13 homolog B (yeast)							77	78	78					8																	100829810		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100829810C>G	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.8215C>G	8.37:g.100829810C>G	ENSP00000351346:p.Gln2739Glu					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	p.Q2739E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		45	8326	+	Breast(36;3.73e-07)		2739					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8215C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	7.401	0.632724	0.14322	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.61	3.76	0.43208	.	0.199496	0.41294	N	0.000903	T	0.44307	0.1287	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	0.35549	-0.9784	10	0.07175	T	0.84	.	16.7969	0.85604	0.0:0.4499:0.5501:0.0	.	2714;2739	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	E	2714;2739	ENSP00000349685:Q2714E;ENSP00000351346:Q2739E	ENSP00000349685:Q2714E	Q	+	1	0	VPS13B	100898986	0.655000	0.27376	1.000000	0.80357	0.996000	0.88848	0.788000	0.26872	0.794000	0.33899	0.655000	0.94253	CAA		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		24	54	0	0	0	1	0	24	54					G	100829810	C	G	100829810	3	3	355	1	0	0	0	0	1	0	0	0	17187	827	29	4	8583	4	VPS13B	8	100829810	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5686697	100829810	45534212	50	33572											
SCRIB	23513	broad.mit.edu	37	chr8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacagctggttccggtcaaGccacagctcccgaagattgg	12	12	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	ENST00000320476.3	-	7	616	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_ENST00000356994.2_Missense_Mutation_p.L204V|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(610-612)Ctt>Gtt		scribbled planar cell polarity protein							14	16	16					8																	144895232		2185	4292	6477	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895232G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.610C>G	8.37:g.144895232G>C	ENSP00000322938:p.Leu204Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L204V	p.L204V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		7	616	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		204			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.610C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323403	0.60634	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.29917	1.55;1.55;1.55	4.28	3.38	0.38709	.	.	.	.	.	T	0.47581	0.1453	L	0.54863	1.705	0.53688	D	0.999974	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.44112	-0.9349	9	0.87932	D	0	.	10.3358	0.43850	0.1738:0.0:0.8262:0.0	.	204;204	Q14160;Q14160-3	SCRIB_HUMAN;.	V	204;204;123	ENSP00000349486:L204V;ENSP00000322938:L204V;ENSP00000366756:L123V	ENSP00000322938:L204V	L	-	1	0	SCRIB	144967220	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.526000	0.35964	0.865000	0.35603	0.563000	0.77884	CTT		0.627	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	14	0	0	0	1	0	5	14					C	144895232	G	C	144895232	3	2	355	1	0	0	0	0	1	0	0	0	13937	971	34	4	4481	4	SCRIB	8	144895232	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	44065422	144895232	1468790	51	33573											
KIAA1161	57462	broad.mit.edu	37	chr9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaccaaatggggtctcGgaaggcctcgggtgctggca	17	9	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	ENST00000297625.7	-	2	1063	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(838-840)Cga>Tga		KIAA1161							59	63	62					9																	34372002		2069	4190	6259	SO:0001587	stop_gained	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372002G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.838C>T	9.37:g.34372002G>A	ENSP00000297625:p.Arg280*						p.R280*	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1063	-			314					Q5T587|Q5T588|Q9ULQ9	Nonsense_Mutation	SNP	ENST00000297625.7	37	c.838C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.487249	0.96323	.	.	ENSG00000164976	ENST00000297625	.	.	.	6.08	4.22	0.49857	.	0.376195	0.27219	N	0.020368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.6627	13.4401	0.61108	0.0:0.0:0.5883:0.4117	.	.	.	.	X	280	.	ENSP00000297625:R280X	R	-	1	2	KIAA1161	34362002	0.976000	0.34144	0.999000	0.59377	0.981000	0.71138	0.929000	0.28844	0.874000	0.35823	0.655000	0.94253	CGA		0.612	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		8	53	0	0	0	1	0	8	53					A	34372002	G	A	34372002	4	1	355	1	0	0	0	0	0	1	0	0	8211	1124	39	1	1208	1	KIAA1161	9	34372002	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		34372002	106841429	52	33574											
C9orf24	84688	broad.mit.edu	37	chr9	34381050	34381050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgggcagcgggtccacGcacccgcatcggggcgtgat	17	15	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	ENST00000297623.2	-	5	750	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_ENST00000379126.3_Intron|C9orf24_ENST00000379133.3_Silent_p.C49C|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379124.1_Silent_p.C49C	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	184					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(550-552)tgC>tgT		chromosome 9 open reading frame 24							12	17	15					9																	34381050		2195	4288	6483	SO:0001819	synonymous_variant	84688							g.chr9:34381050G>A	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"ciliated bronchial epithelium 1", "spermatid-specific manchette-related protein 1"					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.552C>T	9.37:g.34381050G>A						C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379126.3_Intron|C9orf24_ENST00000379124.1_Silent_p.C49C|C9orf24_ENST00000379133.3_Silent_p.C49C	p.C184C	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	5	750	-			184					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.552C>T	CCDS6554.1																																																																																				0.677	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		3	23	0	0	0	1	0	3	23					A	34381050	G	A	34381050	2	1	355	1	0	0	0	0	0	0	0	1	2475	1079	38	1		1	C9orf24	9	34381050	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	9048	34381050	106832381	53	33575											
COL27A1	85301	broad.mit.edu	37	chr9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-													tcaattgtgcccatcaaaagCccccatcctacccagaaaac							TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	ENST00000356083.3	+	3	1543	c.1152delC	c.(1150-1152)agcfs	p.S384fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	384	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1150-1152)agfs		collagen, type XXVII, alpha 1							124	125	125					9																	116930987		2203	4300	6503	SO:0001589	frameshift_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930987delC	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1152delC	9.37:g.116930987delC	ENSP00000348385:p.Ser384fs						p.S384fs	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	1543	+			384			Pro-rich.		Q66K43|Q96JF7	Frame_Shift_Del	DEL	ENST00000356083.3	37	c.1152delC	CCDS6802.1																																																																																				0.532	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		12	218						12	218	---	---	---	---	-	116930987	C	-	116930987	7	5	355	1	0	1	0	1	0	0	0	0	3685	738	26	0	1162	0	COL27A1	9	116930987	Frame_Shift_Del	DEL	C	TCGA-P5-A5EV-01A-11D-A27K-08	82549937	116930987	24282444	54	33576											
TNFSF8	944	broad.mit.edu	37	chr9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccagggaattggatcAccagattcccatcctgatat	7	11	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	ENST00000223795.2	-	4	508	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	132					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(394-396)gTg>gCg		tumor necrosis factor (ligand) superfamily, member 8							151	145	147					9																	117666521		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666521A>G	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.395T>C	9.37:g.117666521A>G	ENSP00000223795:p.Val132Ala					TNFSF8_ENST00000474301.1_5'UTR	p.V132A	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	508	-			132					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.395T>C	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933388	0.73442	.	.	ENSG00000106952	ENST00000223795	D	0.95307	-3.67	5.63	5.63	0.86233	Tumour necrosis factor (3);Tumour necrosis factor-like (2);Tumour necrosis factor, conserved site (1);	0.249660	0.28809	N	0.014068	D	0.92873	0.7733	L	0.27053	0.805	0.32845	D	0.505822	P	0.51240	0.943	P	0.52066	0.689	D	0.95091	0.8222	10	0.72032	D	0.01	-8.4852	13.3596	0.60648	1.0:0.0:0.0:0.0	.	132	P32971	TNFL8_HUMAN	A	132	ENSP00000223795:V132A	ENSP00000223795:V132A	V	-	2	0	TNFSF8	116706342	1.000000	0.71417	0.944000	0.38274	0.968000	0.65278	4.730000	0.62015	2.148000	0.66965	0.533000	0.62120	GTG		0.408	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			4	132	0	0	0	1	0	4	132					G	117666521	A	G	117666521	3	3	355	1	0	0	0	0	1	0	0	0	16308	159	6	3	313	3	TNFSF8	9	117666521	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	735534	117666521	23546910	55	33577											
PFKFB3	5209	broad.mit.edu	37	chr10	6257194	6257194	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtccacagtgttcaacgtCggggagtatcgccgggaggc	15	12	1	0	rs374201933		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	ENST00000379775.4	+	3	543	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000379785.1_Silent_p.V71V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000317350.4_Silent_p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	71	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(211-213)gtC>gtG		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							67	51	56					10																	6257194		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6257194C>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.213C>G	10.37:g.6257194C>G						PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000317350.4_Silent_p.V71V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000379785.1_Silent_p.V71V	p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			3	543	+			71			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.213C>G	CCDS7078.1																																																																																				0.577	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			13	35	0	0	0	1	0	13	35					G	6257194	C	G	6257194	2	3	355	1	0	0	0	0	0	0	0	1	11762	871	31	4		4	PFKFB3	10	6257194	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6257194	129277553	56	33578											
ANXA7	310	broad.mit.edu	37	chr10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcatctcttatagcatcgaaGttggcagctggtcggatagt	12	8	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	ENST00000372921.5	-	6	542	c.486C>G	c.(484-486)aaC>aaG	p.N162K	ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	184					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378																																						ENST00000372921.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(484-486)aaC>aaG		annexin A7							110	106	107					10																	75148122		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75148122G>C	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"Annexins"	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.486C>G	10.37:g.75148122G>C	ENSP00000362012:p.Asn162Lys					ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	p.N162K	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN			6	542	-	Prostate(51;0.0119)		184					Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.486C>G	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950011	0.53186	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.05081	3.5;3.5;3.5	5.87	3.04	0.35103	.	0.120897	0.56097	D	0.000026	T	0.03959	0.0111	N	0.08118	0	0.48901	D	0.999722	B;B;B;B;B	0.33512	0.291;0.155;0.107;0.415;0.107	B;B;B;B;B	0.35240	0.097;0.097;0.039;0.198;0.058	T	0.51710	-0.8671	10	0.62326	D	0.03	.	9.5114	0.39078	0.2305:0.0:0.7695:0.0	.	162;162;89;162;184	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	K	162;184;32	ENSP00000362012:N162K;ENSP00000362010:N184K;ENSP00000442864:N32K	ENSP00000362010:N184K	N	-	3	2	ANXA7	74818128	1.000000	0.71417	0.968000	0.41197	0.972000	0.66771	2.612000	0.46343	0.399000	0.25367	0.650000	0.86243	AAC		0.378	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		21	46	0	0	0	1	0	21	46					C	75148122	G	C	75148122	3	2	355	1	0	0	0	0	1	0	0	0	723	1020	36	4	946	4	ANXA7	10	75148122	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	68890928	75148122	60386625	57	33579											
DLG5	9231	broad.mit.edu	37	chr10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttaagcggccatcagcaaTgcttcctttgtccactttag	7	13	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	ENST00000372391.2	-	11	1995	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	664	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			CCATCAGCAATGCTTCCTTTG	0.542																																						ENST00000372391.2																			0				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						c.(1990-1992)Att>Ttt		discs, large homolog 5 (Drosophila)							112	99	103					10																	79589994		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589994T>A	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.1990A>T	10.37:g.79589994T>A	ENSP00000361467:p.Ile664Phe					DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		11	1995	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		664			PDZ 1.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1990A>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529290	0.44969	.	.	ENSG00000151208	ENST00000372391;ENST00000372388;ENST00000372392	T;T	0.27256	1.68;1.68	5.47	3.09	0.35607	PDZ/DHR/GLGF (4);	0.451871	0.16508	N	0.211341	T	0.37237	0.0996	M	0.82823	2.61	0.38615	D	0.951006	B;B;P	0.41188	0.225;0.266;0.741	B;B;P	0.44394	0.116;0.257;0.448	T	0.28618	-1.0038	10	0.54805	T	0.06	.	9.6373	0.39817	0.0:0.1338:0.0:0.8662	.	554;664;664	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	F	664;664;213	ENSP00000361467:I664F;ENSP00000361464:I664F	ENSP00000361464:I664F	I	-	1	0	DLG5	79260000	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.450000	0.44943	0.347000	0.23924	0.459000	0.35465	ATT		0.542	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			32	76	0	0	0	1	0	32	76					A	79589994	T	A	79589994	3	1	355	1	0	0	0	0	1	0	0	0	4558	1464	51	5	3857	5	DLG5	10	79589994	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	4441872	79589994	55944753	58	33580											
GHITM	27069	broad.mit.edu	37	chr10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgaagaattccatcacgaaGaatcaatggctgttaacacc	8	9	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	ENST00000372134.3	+	2	295	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	34					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(100-102)aaG>aaC		growth hormone inducible transmembrane protein							127	119	122					10																	85901358		1862	4109	5971	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85901358G>C	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.102G>C	10.37:g.85901358G>C	ENSP00000361207:p.Lys34Asn						p.K34N	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			2	295	+			34					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.102G>C	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306885	0.60305	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	6.16	3.24	0.37175	.	0.675510	0.15403	N	0.264189	T	0.39809	0.1092	L	0.41236	1.265	0.34324	D	0.686942	B	0.21452	0.056	B	0.23419	0.046	T	0.43032	-0.9416	9	0.28530	T	0.3	-32.3412	6.1528	0.20320	0.2066:0.0:0.6621:0.1313	.	34	Q9H3K2	GHITM_HUMAN	N	34;21;34;34	.	ENSP00000342214:K34N	K	+	3	2	GHITM	85891338	0.998000	0.40836	0.381000	0.26106	0.816000	0.46133	1.587000	0.36622	0.943000	0.37553	0.650000	0.86243	AAG		0.448	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		33	77	0	0	0	1	0	33	77					C	85901358	G	C	85901358	3	2	355	1	0	0	0	0	1	0	0	0	6370	933	33	4	104	4	GHITM	10	85901358	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6311364	85901358	49633389	59	33581											
CD151	977	broad.mit.edu	37	chr11	837606	837606	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgagaccatgcctccaacatCtacaaggtggaggtgggtgt	13	10	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	ENST00000397420.3	+	7	852	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M|CD151_ENST00000322008.4_Missense_Mutation_p.I201M			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	201					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642																																					Esophageal Squamous(14;501 559 15826 37823 38305)	ENST00000397420.3																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(601-603)atC>atG		CD151 molecule (Raph blood group)							94	88	90					11																	837606		2201	4296	6497	SO:0001583	missense	977				cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding	g.chr11:837606C>G	AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"CD molecules", "Blood group antigens", "Tetraspanins"	1630	protein-coding gene	gene with protein product		602243	"CD151 antigen", "CD151 antigen (Raph blood group)"			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.603C>G	11.37:g.837606C>G	ENSP00000380565:p.Ile201Met					CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M|CD151_ENST00000322008.4_Missense_Mutation_p.I201M	p.I201M			P48509	CD151_HUMAN		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	852	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	201					A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	ENST00000397420.3	37	c.603C>G	CCDS7719.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821055	0.71028	.	.	ENSG00000177697	ENST00000397420;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000528143;ENST00000528011	T;T;T;T;T	0.80480	-1.25;-1.25;-1.25;1.12;-1.38	4.17	4.17	0.49024	Tetraspanin, EC2 domain (1);	0.356263	0.30676	N	0.009113	D	0.90628	0.7061	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92672	0.6151	10	0.87932	D	0	.	16.2631	0.82557	0.0:1.0:0.0:0.0	.	201	P48509	CD151_HUMAN	M	201;201;201;176;77;201	ENSP00000380565:I201M;ENSP00000324101:I201M;ENSP00000380566:I201M;ENSP00000432258:I176M;ENSP00000432990:I201M	ENSP00000324101:I201M	I	+	3	3	CD151	827606	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.885000	0.48570	2.171000	0.68590	0.561000	0.74099	ATC		0.642	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257108.1	NM_004357		5	66	0	0	0	1	0	5	66					G	837606	C	G	837606	3	3	355	1	0	0	0	0	1	0	0	0	2965	903	32	4	621	4	CD151	11	837606	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		837606	134168910	60	33582											
MUC5B	727897	broad.mit.edu	37	chr11	1265832	1265832	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tcctccactccagagactgtCcacacctccacagtgcttac	5	18	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	ENST00000529681.1	+	31	7780	c.7722C>G	c.(7720-7722)gtC>gtG	p.V2574V	MUC5B_ENST00000447027.1_Silent_p.V2577V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|V -> 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)		CAGAGACTGTCCACACCTCCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7729-7731)gtC>gtG		mucin 5B, oligomeric mucus/gel-forming							117	139	131					11																	1265832		2073	4189	6262	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265832C>G	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.7722C>G	11.37:g.1265832C>G						MUC5B_ENST00000529681.1_Silent_p.V2574V|RP11-532E4.2_ENST00000532061.2_RNA	p.V2577V			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7789	+		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)	2574	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7731C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.913	-0.450152	0.04572	.	.	ENSG00000117983	ENST00000537836	.	.	.	2.44	2.44	0.29823	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34477	-0.9827	5	0.72032	D	0.01	.	8.3173	0.32108	0.0:1.0:0.0:0.0	.	.	.	.	C	118	.	ENSP00000440615:S118C	S	+	2	0	MUC5B	1222408	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-3.199000	0.00561	1.355000	0.45865	0.195000	0.17529	TCC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		77	204	0	0	0	1	0	77	204					G	1265832	C	G	1265832	2	3	355	1	0	0	0	0	0	0	0	1	9979	842	30	4		4	MUC5B	11	1265832	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	428226	1265832	133740684	61	33583											
LGR4	55366	broad.mit.edu	37	chr11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actgtctgagacaaaggaatCttcttcatctgcataatcag	7	9	6	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	ENST00000379214.4	-	18	3180	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	913					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAAGGAATCTTCTTCATCT	0.532																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2737-2739)Gat>Cat		leucine-rich repeat containing G protein-coupled receptor 4							76	77	77					11																	27389533		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27389533C>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2737G>C	11.37:g.27389533C>G	ENSP00000368516:p.Asp913His					LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	p.D913H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	3180	-			913					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2737G>C	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237248	0.79800	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.63255	-0.03;0.07	5.78	5.78	0.91487	.	0.045651	0.85682	D	0.000000	T	0.71451	0.3341	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73304	-0.4025	10	0.62326	D	0.03	.	20.005	0.97433	0.0:1.0:0.0:0.0	.	889;913	G5E9B3;Q9BXB1	.;LGR4_HUMAN	H	913;889	ENSP00000368516:D913H;ENSP00000374508:D889H	ENSP00000368516:D913H	D	-	1	0	LGR4	27346109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.745000	0.94114	0.555000	0.69702	GAT		0.532	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		4	136	0	0	0	1	0	4	136					G	27389533	C	G	27389533	3	3	355	1	0	0	0	0	1	0	0	0	8756	913	32	4	122	4	LGR4	11	27389533	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26123701	27389533	107616983	62	33584											
C11orf41	25758	broad.mit.edu	37	chr11	33564683	33564683	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtgccagaaatgcccaCtcttccagcagagggcagtg	11	13	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:33564683C>G	ENST00000321505.4	+	1	863	c.683C>G	c.(682-684)aCt>aGt	p.T228S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	228						integral component of membrane (GO:0016021)											GAAATGCCCACTCTTCCAGCA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(682-684)aCt>aGt		KIAA1549-like							79	78	78					11																	33564683		1941	4139	6080	SO:0001583	missense	25758							g.chr11:33564683C>G	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.683C>G	11.37:g.33564683C>G	ENSP00000315295:p.Thr228Ser		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T228S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T228S	p.T228S							1	863	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.683C>G	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	7.964	0.747589	0.15710	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.3	2.31	0.28768	.	2.000870	0.02534	N	0.093895	T	0.23611	0.0571	N	0.14661	0.345	0.09310	N	1	B;B	0.27351	0.011;0.176	B;B	0.21917	0.008;0.037	T	0.17930	-1.0353	9	0.30854	T	0.27	8.1797	6.6638	0.23029	0.0:0.6958:0.1481:0.156	.	228;228	E9PAT2;Q6ZVL6-2	.;.	S	228;228;228;68	.	ENSP00000265654:T228S	T	+	2	0	C11orf41	33521259	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.643000	0.05421	0.198000	0.20407	0.555000	0.69702	ACT		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		25	108	0	0	0	1	0	25	108					G	33564683	C	G	33564683	3	3	355	1	0	0	0	0	1	0	0	0	1640	565	20	4	685	4	C11orf41	11	33564683	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6175150	33564683	101441833	63	33585											
PTPMT1	114971	broad.mit.edu	37	chr11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctttgcctcggcagctgGtacaggacgagaacgtgcgc	13	13	1	1	rs373652946		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	ENST00000326674.9	+	2	200	c.178G>C	c.(178-180)Gta>Cta	p.V60L	NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000534775.1_Missense_Mutation_p.G96A	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	60					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682																																						ENST00000534775.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(286-288)gGt>gCt		protein tyrosine phosphatase, mitochondrial 1							29	32	31					11																	47587461		2058	4203	6261	SO:0001583	missense	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47587461G>C	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.178G>C	11.37:g.47587461G>C	ENSP00000325958:p.Val60Leu					PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L|PTPMT1_ENST00000326674.9_Missense_Mutation_p.V60L	p.G96A			Q8WUK0	PTPM1_HUMAN			1	452	+			0					E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	c.287G>C	CCDS41643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.514044|3.514044	0.64522|0.64522	.|.	.|.	ENSG00000110536|ENSG00000110536	ENST00000426530;ENST00000534775|ENST00000326656;ENST00000326674	.|T;T	.|0.51817	.|2.32;0.69	4.65|4.65	1.69|1.69	0.24217|0.24217	.|.	.|0.080378	.|0.49305	.|U	.|0.000152	T|T	0.36552|0.36552	0.0971|0.0971	L|L	0.49350|0.49350	1.555|1.555	0.42496|0.42496	D|D	0.992918|0.992918	D;D|P;B	0.67145|0.46277	0.996;0.996|0.875;0.207	P;P|B;B	0.62560|0.40256	0.904;0.904|0.324;0.129	T|T	0.11616|0.11616	-1.0580|-1.0580	8|10	0.87932|0.31617	D|T	0|0.26	-14.5094|-14.5094	8.4202|8.4202	0.32696|0.32696	0.3134:0.0:0.6866:0.0|0.3134:0.0:0.6866:0.0	.|.	96;96|60;60	E9PAT8;E9PQM0|Q8WUK0-2;Q8WUK0	.;.|.;PTPM1_HUMAN	A|L	96|60	.|ENSP00000325882:V60L;ENSP00000325958:V60L	ENSP00000410272:G96A|ENSP00000325882:V60L	G|V	+|+	2|1	0|0	PTPMT1|PTPMT1	47544037|47544037	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.972000|0.972000	0.66771|0.66771	2.294000|2.294000	0.43567|0.43567	0.565000|0.565000	0.29255|0.29255	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.682	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		3	59	0	0	0	1	0	3	59					C	47587461	G	C	47587461	3	2	355	1	0	0	0	0	1	0	0	0	12778	1261	44	4	289	4	PTPMT1	11	47587461	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	14022778	47587461	87419055	64	33586											
OR5I1	10798	broad.mit.edu	37	chr11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagcgatcataggccatggCggccaggatgaaggattctg	14	8	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	ENST00000301532.3	-	1	354	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					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)	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433																																						ENST00000301532.3																			1	Substitution - Missense(1)	p.A119T(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(355-357)Gcc>Acc		olfactory receptor, family 5, subfamily I, member 1							54	56	55					11																	55703522		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703522C>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.355G>A	11.37:g.55703522C>T	ENSP00000301532:p.Ala119Thr						p.A119T	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	354	-			119					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.355G>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838853	0.16891	.	.	ENSG00000167825	ENST00000301532	T	0.03035	4.07	4.94	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.142736	0.32287	N	0.006305	T	0.03651	0.0104	L	0.58101	1.795	0.09310	N	1	P	0.49358	0.923	B	0.31869	0.137	T	0.43097	-0.9412	10	0.42905	T	0.14	.	9.5788	0.39475	0.0:0.8258:0.0:0.1742	.	119	Q13606	OR5I1_HUMAN	T	119	ENSP00000301532:A119T	ENSP00000301532:A119T	A	-	1	0	OR5I1	55460098	0.000000	0.05858	0.242000	0.24170	0.021000	0.10359	1.005000	0.29834	0.601000	0.29879	-0.154000	0.13518	GCC		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	61	0	0	0	1	0	5	61					T	55703522	C	T	55703522	3	4	355	1	0	0	0	0	1	0	0	0	11164	768	27	1	592	1	OR5I1	11	55703522	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8116061	55703522	79302994	65	33587											
MS4A4A	51338	broad.mit.edu	37	chr11	60068530	60068530	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attagaactacaaaaggcctGgtgagtaatattttcttttt	7	5	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	ENST00000337908.4	+	4	477	c.387G>C	c.(385-387)ctG>ctC	p.L129L	MS4A4A_ENST00000355131.3_Splice_Site_p.L110L|MS4A4A_ENST00000532114.1_Splice_Site_p.L129L|MS4A4A_ENST00000395016.3_Splice_Site_p.L110L	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	129						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.e5+1		membrane-spanning 4-domains, subfamily A, member 4A							65	66	66					11																	60068530		2203	4298	6501	SO:0001630	splice_region_variant	51338					integral to membrane	receptor activity	g.chr11:60068530G>C	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"membrane-spanning 4-domains, subfamily A, member 4"	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.387+1G>C	11.37:g.60068530G>C						MS4A4A_ENST00000395016.3_Splice_Site_p.L110_splice|MS4A4A_ENST00000532114.1_Splice_Site_p.L129_splice|MS4A4A_ENST00000337908.4_Splice_Site_p.L129_splice	p.L110_splice	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			5	553	+			129					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Splice_Site	SNP	ENST00000337908.4	37	c.330_splice	CCDS7982.1																																																																																				0.299	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		Silent	8	11	0	0	0	1	0	8	11					C	60068530	G	C	60068530	5	2	355	1	0	0	0	0	0	0	1	0	9862	1362	47	4	401	4	MS4A4A	11	60068530	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	4365008	60068530	74937986	66	33588											
GPR44	11251	broad.mit.edu	37	chr11	60620596	60620596	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccagggccacctgccgcgaGttgcacgtggcatcgcggtc	15	15	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60620596G>C	ENST00000332539.4	-	2	711	c.600C>G	c.(598-600)aaC>aaG	p.N200K	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	200					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	CCTGCCGCGAGTTGCACGTGG	0.667																																						ENST00000332539.4																			0											c.(598-600)aaC>aaG		prostaglandin D2 receptor 2							25	29	28					11																	60620596		2203	4299	6502	SO:0001583	missense	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620596G>C	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.600C>G	11.37:g.60620596G>C	ENSP00000332812:p.Asn200Lys						p.N200K	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	711	-			200					O94765|Q4QRI6	Missense_Mutation	SNP	ENST00000332539.4	37	c.600C>G	CCDS7994.1	.	.	.	.	.	.	.	.	.	.	G	0.177	-1.066324	0.01934	.	.	ENSG00000183134	ENST00000332539	T	0.36699	1.24	4.74	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.643439	0.16112	N	0.229080	T	0.17152	0.0412	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.13683	-1.0500	10	0.09338	T	0.73	.	11.1037	0.48190	0.11:0.0:0.89:0.0	.	200	Q9Y5Y4	GPR44_HUMAN	K	200	ENSP00000332812:N200K	ENSP00000332812:N200K	N	-	3	2	GPR44	60377172	0.034000	0.19679	0.481000	0.27354	0.791000	0.44710	1.838000	0.39211	2.187000	0.69744	0.511000	0.50034	AAC		0.667	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		6	21	0	0	0	1	0	6	21					C	60620596	G	C	60620596	3	2	355	1	0	0	0	0	1	0	0	0	6695	1020	36	4	591	4	GPR44	11	60620596	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	552066	60620596	74385920	67	33589											
NAA40	79829	broad.mit.edu	37	chr11	63721927	63721927	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcactcccacgcgggtggGcactgtggtggctgctgcca	14	14	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	ENST00000377793.4	+	8	791	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_ENST00000542163.1_Silent_p.G209G|NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000539656.1_Silent_p.G117G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	230					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(688-690)ggG>ggC		N(alpha)-acetyltransferase 40, NatD catalytic subunit							47	49	48					11																	63721927		2201	4297	6498	SO:0001819	synonymous_variant	79829						N-acetyltransferase activity	g.chr11:63721927G>C	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.690G>C	11.37:g.63721927G>C						NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000542163.1_Silent_p.G209G|NAA40_ENST00000539656.1_Silent_p.G117G	p.G230G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			8	791	+			230					B4DR03|B4DU10|Q5HYL5|Q9H897	Silent	SNP	ENST00000377793.4	37	c.690G>C	CCDS8053.1																																																																																				0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		12	73	0	0	0	1	0	12	73					C	63721927	G	C	63721927	2	2	355	1	0	0	0	0	0	0	0	1	10125	1190	42	4		4	NAA40	11	63721927	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3101331	63721927	71284589	68	33590											
DDI1	414301	broad.mit.edu	37	chr11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctacacagccgacccactgGatcgggaagctcaggccaaa	10	14	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	ENST00000302259.3	+	1	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	207							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(619-621)Gat>Cat		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							69	78	75					11																	103908169		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908169G>C		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.619G>C	11.37:g.103908169G>C	ENSP00000302805:p.Asp207His					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.D207H	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	862	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	207					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.619G>C	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159137	0.38119	.	.	ENSG00000170967	ENST00000302259	T	0.28895	1.59	4.96	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.89353	3.025	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	T	0.64647	-0.6358	10	0.87932	D	0	-9.9383	11.1545	0.48480	0.092:0.0:0.908:0.0	.	207	Q8WTU0	DDI1_HUMAN	H	207	ENSP00000302805:D207H	ENSP00000302805:D207H	D	+	1	0	DDI1	103413379	1.000000	0.71417	0.155000	0.22561	0.002000	0.02628	7.203000	0.77864	2.745000	0.94114	0.655000	0.94253	GAT		0.502	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		64	94	0	0	0	1	0	64	94					C	103908169	G	C	103908169	3	2	355	1	0	0	0	0	1	0	0	0	4328	1174	41	4	621	4	DDI1	11	103908169	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40186242	103908169	31098347	69	33591											
PHB2	11331	broad.mit.edu	37	chr12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgagacaacactcgcAgggagatattcaccatctgt	11	10	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	ENST00000535923.1	-	4	598	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q|PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532																																						ENST00000535923.1																			0				ovary(2)|pancreas(1)	3						c.(316-318)cTg>cAg		prohibitin 2							65	65	65					12																	7077734		2061	4206	6267	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077734A>T	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.317T>A	12.37:g.7077734A>T	ENSP00000441875:p.Leu106Gln					PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q	p.L106Q	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN			4	598	-			106						Missense_Mutation	SNP	ENST00000535923.1	37	c.317T>A	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900618	0.92035	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.31	5.31	0.75309	.	0.097329	0.42964	U	0.000629	D	0.97980	0.9335	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.992	D	0.99278	1.0895	10	0.87932	D	0	-9.955	15.5626	0.76262	1.0:0.0:0.0:0.0	.	106;106;106	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	Q	106;106;106;106;142;117	ENSP00000441875:L106Q;ENSP00000440317:L106Q;ENSP00000382362:L106Q;ENSP00000412856:L106Q;ENSP00000441662:L142Q;ENSP00000439029:L117Q	ENSP00000382362:L106Q	L	-	2	0	PHB2	6947995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.134000	0.65973	0.533000	0.62120	CTG		0.532	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		13	38	0	0	0	1	0	13	38					T	7077734	A	T	7077734	3	4	355	1	0	0	0	0	1	0	0	0	11815	188	7	5	606	5	PHB2	12	7077734	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		7077734	126774161	70	33592											
CD163L1	283316	broad.mit.edu	37	chr12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgacgctgccccaggtccCgttatagaagacttccaatc	9	15	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	ENST00000313599.3	-	14	3541	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1162	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3484-3486)Ggg>Agg		CD163 molecule-like 1							139	146	143					12																	7526162		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526162C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3484G>A	12.37:g.7526162C>T	ENSP00000315945:p.Gly1162Arg					CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R	p.G1162R			Q9NR16	C163B_HUMAN			14	3541	-			1162			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3484G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423964	0.62733	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36699	1.24;1.24;1.24	2.28	1.36	0.22044	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.33610	U	0.004740	T	0.59514	0.2199	M	0.86651	2.83	0.31273	N	0.691481	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.64127	-0.6480	10	0.87932	D	0	.	8.8761	0.35345	0.0:0.7668:0.2332:0.0	.	1172;1162	E7EVK4;Q9NR16	.;C163B_HUMAN	R	1162;1172;1162	ENSP00000315945:G1162R;ENSP00000393474:G1172R;ENSP00000379871:G1162R	ENSP00000315945:G1162R	G	-	1	0	CD163L1	7417429	0.688000	0.27680	0.002000	0.10522	0.521000	0.34408	2.581000	0.46077	0.497000	0.27926	0.557000	0.71058	GGG		0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		126	186	0	0	0	1	0	126	186					T	7526162	C	T	7526162	3	4	355	1	0	0	0	0	1	0	0	0	2968	652	23	1	901	1	CD163L1	12	7526162	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	448428	7526162	126325733	71	33593											
HEBP1	50865	broad.mit.edu	37	chr12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagatctcattgcgccGtccgtagggcttcatgggag	13	12	2	1	rs76698360		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	ENST00000014930.4	-	4	696	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	180					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19484	0.0		0.0	False		,,,				2504	0.0					ENST00000014930.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(538-540)Cgg>Tgg		heme binding protein 1		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	140	115	123		538	3.8	1	12	dbSNP_133	123	0,8600		0,0,4300	no	missense	HEBP1	NM_015987.4	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	180/190	13128274	2,13004	2203	4300	6503	SO:0001583	missense	50865				circadian rhythm	extracellular region		g.chr12:13128274G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"Endogenous ligands"	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.538C>T	12.37:g.13128274G>A	ENSP00000014930:p.Arg180Trp					RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA	p.R180W	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	4	696	-		Prostate(47;0.183)	180					A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	c.538C>T	CCDS31749.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.3	3.975341	0.74360	4.54E-4	0.0	ENSG00000013583	ENST00000014930	T	0.38240	1.15	4.76	3.8	0.43715	Regulatory factor, effector, bacterial (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66300	-0.5958	10	0.87932	D	0	-19.0835	10.2767	0.43515	0.0:0.0:0.6658:0.3342	.	180	Q9NRV9	HEBP1_HUMAN	W	180	ENSP00000014930:R180W	ENSP00000014930:R180W	R	-	1	2	HEBP1	13019541	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	2.245000	0.43133	2.625000	0.88918	0.655000	0.94253	CGG		0.587	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			35	119	0	0	0	1	0	35	119					A	13128274	G	A	13128274	3	1	355	1	0	0	0	0	1	0	0	0	7036	1144	40	1	35	1	HEBP1	12	13128274	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5602112	13128274	120723621	72	33594											
CCDC91	55297	broad.mit.edu	37	chr12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tattgaaaaacagtacatttCtgcaattgagaaacaggcac	7	7	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	ENST00000545336.1	+	11	1132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000539107.1_Intron			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S238F(1)		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)					CAGTACATTTCTGCAATTGAG	0.368																																						ENST00000545336.1																			1	Substitution - Missense(1)	p.S238F(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(712-714)tCt>tGt		coiled-coil domain containing 91							92	90	91					12																	28544295		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28544295C>G	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.713C>G	12.37:g.28544295C>G	ENSP00000438040:p.Ser238Cys					CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C	p.S238C			Q7Z6B0	CCD91_HUMAN			11	1132	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		238			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.713C>G	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491898	0.44352	.	.	ENSG00000123106	ENST00000540794;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000306172	T;T;T;T;T;T	0.55588	0.51;1.41;1.41;1.41;1.41;1.4	5.16	4.26	0.50523	.	0.359356	0.22352	N	0.061199	T	0.34716	0.0907	N	0.19112	0.55	0.26124	N	0.980515	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24190	-1.0167	10	0.59425	D	0.04	.	7.0445	0.25038	0.0:0.7255:0.1778:0.0967	.	238;208	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	C	34;238;238;238;238;208	ENSP00000441714:S34C;ENSP00000445660:S238C;ENSP00000438040:S238C;ENSP00000442544:S238C;ENSP00000370658:S238C;ENSP00000305075:S208C	ENSP00000305075:S208C	S	+	2	0	CCDC91	28435562	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.460000	0.45031	1.287000	0.44583	0.650000	0.86243	TCT		0.368	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		27	48	0	0	0	1	0	27	48					G	28544295	C	G	28544295	3	3	355	1	0	0	0	0	1	0	0	0	2870	913	32	4	739	4	CCDC91	12	28544295	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15416021	28544295	105307600	73	33595											
SYT10	341359	broad.mit.edu	37	chr12	33529816	33529816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatccttgactatcaaaActggtcgcccggccaggtaa	10	12	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	ENST00000228567.3	-	7	1817	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_ENST00000535526.1_Silent_p.S326S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	507					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1519-1521)agT>agC		synaptotagmin X							123	120	121					12																	33529816		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529816A>G	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1521T>C	12.37:g.33529816A>G						SYT10_ENST00000535526.1_Silent_p.S326S	p.S507S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1817	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		507					Q495U2	Silent	SNP	ENST00000228567.3	37	c.1521T>C	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		35	61	0	0	0	1	0	35	61					G	33529816	A	G	33529816	2	3	355	1	0	0	0	0	0	0	0	1	15463	40	2	3		3	SYT10	12	33529816	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	4985521	33529816	100322079	74	33596											
MYF5	4617	broad.mit.edu	37	chr12	81111280	81111280	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtggagaactactaTagcctgccgggacagagctg	15	9	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	ENST00000228644.3	+	1	590	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	146					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						AGAACTACTATAGCCTGCCGG	0.577																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(436-438)taT>taC		myogenic factor 5							117	124	122					12																	81111280		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111280T>C		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.438T>C	12.37:g.81111280T>C							p.Y146Y	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	590	+			146					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.438T>C	CCDS9020.1																																																																																				0.577	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		102	172	0	0	0	1	0	102	172					C	81111280	T	C	81111280	2	2	355	1	0	0	0	0	0	0	0	1	10027	1413	49	3		3	MYF5	12	81111280	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	47581464	81111280	52740615	75	33597											
TMTC2	160335	broad.mit.edu	37	chr12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaatgggaaaactgTaacaaatggcaagcagaatg	11	5	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	ENST00000321196.3	+	3	1732	c.1025T>C	c.(1024-1026)gTa>gCa	p.V342A	TMTC2_ENST00000549919.1_Missense_Mutation_p.V336A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	342					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1006-1008)gTa>gCa		transmembrane and tetratricopeptide repeat containing 2							109	103	105					12																	83289967		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289967T>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1025T>C	12.37:g.83289967T>C	ENSP00000322300:p.Val342Ala					TMTC2_ENST00000321196.3_Missense_Mutation_p.V342A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A	p.V336A			Q8N394	TMTC2_HUMAN			4	2812	+			342					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1007T>C	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	8.346	0.829770	0.16749	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61627	0.73;0.09;0.63	5.98	4.83	0.62350	.	0.654660	0.16410	N	0.215636	T	0.40670	0.1126	N	0.14661	0.345	0.36049	D	0.840601	B;B;B	0.22211	0.0;0.066;0.0	B;B;B	0.21708	0.0;0.036;0.0	T	0.39542	-0.9609	10	0.27785	T	0.31	-8.6828	12.2661	0.54679	0.0:0.0662:0.0:0.9338	.	342;97;342	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	A	342;342;336;97	ENSP00000322300:V342A;ENSP00000448292:V342A;ENSP00000447609:V336A	ENSP00000322300:V342A	V	+	2	0	TMTC2	81814098	0.491000	0.26019	0.334000	0.25495	0.807000	0.45602	2.062000	0.41413	1.073000	0.40885	0.528000	0.53228	GTA		0.448	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		6	141	0	0	0	1	0	6	141					C	83289967	T	C	83289967	3	2	355	1	0	0	0	0	1	0	0	0	16258	1638	57	3	1035	3	TMTC2	12	83289967	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	2178687	83289967	50561928	76	33598											
CUX2	23316	broad.mit.edu	37	chr12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgccaatcgggaggAggccctggagtgggagttct	19	9	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	ENST00000261726.6	+	22	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1480					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4438-4440)gAg>gTg		cut-like homeobox 2							59	65	63					12																	111786107		1984	4151	6135	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111786107A>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4439A>T	12.37:g.111786107A>T	ENSP00000261726:p.Glu1480Val						p.E1480V	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			22	4593	+			1480					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4439A>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517990	0.85495	.	.	ENSG00000111249	ENST00000261726	T	0.61274	0.12	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.77694	-0.2492	10	0.87932	D	0	-28.8768	15.0071	0.71522	1.0:0.0:0.0:0.0	.	1480	O14529	CUX2_HUMAN	V	1480	ENSP00000261726:E1480V	ENSP00000261726:E1480V	E	+	2	0	CUX2	110270490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.030000	0.59900	0.533000	0.62120	GAG		0.572	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		5	186	0	0	0	1	0	5	186					T	111786107	A	T	111786107	3	4	355	1	0	0	0	0	1	0	0	0	4065	304	11	5	4525	5	CUX2	12	111786107	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	28496140	111786107	22065788	77	33599											
PLBD2	196463	broad.mit.edu	37	chr12	113824841	113824841	+	Silent	SNP	C	C	T													agcccccgggcccagatcttCcggcggaaccagtcactggt							TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	ENST00000280800.3	+	10	1417	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_ENST00000545182.2_Silent_p.F430F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	462					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1384-1386)ttC>ttT		phospholipase B domain containing 2							71	76	74					12																	113824841		2203	4300	6503	SO:0001819	synonymous_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824841C>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1386C>T	12.37:g.113824841C>T						PLBD2_ENST00000545182.2_Silent_p.F430F	p.F462F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1417	+			462					F5H5E2	Silent	SNP	ENST00000280800.3	37	c.1386C>T	CCDS9168.1																																																																																				0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		14	162	0	0	0	1	0	14	162					T	113824841	C	T	113824841	2	4	355	1	0	0	0	0	0	0	0	1	12026	854	30	2		2	PLBD2	12	113824841	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2038734	113824841	20027054	78	33600	148	3									
PLBD2	196463	broad.mit.edu	37	chr12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T													gcccccgggcccagatcttcCggcggaaccagtcactggta							TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	ENST00000280800.3	+	10	1418	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607																																						ENST00000280800.3																			1	Substitution - coding silent(1)	p.R463R(1)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1387-1389)Cgg>Tgg		phospholipase B domain containing 2							71	76	74					12																	113824842		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824842C>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1387C>T	12.37:g.113824842C>T	ENSP00000280800:p.Arg463Trp					PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	p.R463W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1418	+			463					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1387C>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003235	0.74932	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.18810	2.19;2.19	5.33	3.36	0.38483	.	0.531595	0.20401	N	0.093055	T	0.50582	0.1624	M	0.91196	3.185	0.29110	N	0.880921	D;D	0.76494	0.999;0.995	P;P	0.62382	0.857;0.901	T	0.57934	-0.7725	10	0.72032	D	0.01	-16.1598	13.6446	0.62275	0.1165:0.7561:0.1274:0.0	.	431;463	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	W	431;463	ENSP00000443463:R431W;ENSP00000280800:R463W	ENSP00000280800:R463W	R	+	1	2	PLBD2	112309225	0.478000	0.25917	0.986000	0.45419	0.995000	0.86356	1.109000	0.31135	1.225000	0.43566	0.561000	0.74099	CGG		0.607	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		14	161	0	0	0	1	0	14	161					T	113824842	C	T	113824842	3	4	355	1	0	0	0	0	1	0	0	0	12026	643	23	1	1425	1	PLBD2	12	113824842	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824842	20027053	79	33601	148	3									
PLBD2	196463	broad.mit.edu	37	chr12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T													cccccgggcccagatcttccGgcggaaccagtcactggtac							TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	ENST00000280800.3	+	10	1419	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1387-1389)cGg>cTg		phospholipase B domain containing 2							70	76	74					12																	113824843		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824843G>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1388G>T	12.37:g.113824843G>T	ENSP00000280800:p.Arg463Leu					PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	p.R463L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			10	1419	+			463					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1388G>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922840	0.52653	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.18174	2.23;2.23	5.32	-5.4	0.02656	.	0.531595	0.20401	N	0.093055	T	0.21103	0.0508	M	0.91196	3.185	0.23720	N	0.997024	B;B	0.15141	0.012;0.004	B;B	0.22753	0.027;0.041	T	0.31166	-0.9953	10	0.45353	T	0.12	-16.1598	5.999	0.19509	0.5065:0.0:0.2865:0.207	.	431;463	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	431;463	ENSP00000443463:R431L;ENSP00000280800:R463L	ENSP00000280800:R463L	R	+	2	0	PLBD2	112309226	0.000000	0.05858	0.914000	0.36105	0.994000	0.84299	-0.606000	0.05654	-0.937000	0.03719	0.555000	0.69702	CGG		0.602	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		14	158	1	0	3.41278e-10	1	3.4797e-10	14	158					T	113824843	G	T	113824843	3	4	355	1	0	0	0	0	1	0	0	0	12026	1116	39	4	1426	4	PLBD2	12	113824843	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824843	20027052	80	33602	148	3									
ATP12A	479	broad.mit.edu	37	chr13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactgctcttttaaaattctCagaggtcattttgggtgatg	9	6	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	ENST00000381946.3	+	11	1591	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	ATP12A_ENST00000218548.6_Missense_Mutation_p.S481L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTAAAATTCTCAGAGGTCATT	0.353											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1441-1443)tCa>tTa		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						117	127	123					13																	25268628		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25268628C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1424C>T	13.37:g.25268628C>T	ENSP00000371372:p.Ser475Leu		OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000381946.3_Missense_Mutation_p.S475L	p.S481L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	11	1775	+		Lung SC(185;0.0225)|Breast(139;0.077)	475					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1442C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078626	0.76528	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.090669	0.48286	D	0.000200	T	0.72534	0.3472	N	0.04787	-0.16	0.46376	D	0.999018	B;P	0.37573	0.015;0.6	B;P	0.50314	0.087;0.637	T	0.77091	-0.2716	10	0.54805	T	0.06	.	17.0052	0.86391	0.0:1.0:0.0:0.0	.	481;475	P54707-2;P54707	.;AT12A_HUMAN	L	481;475	ENSP00000218548:S481L;ENSP00000371372:S475L	ENSP00000218548:S481L	S	+	2	0	ATP12A	24166628	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	3.563000	0.53784	2.620000	0.88729	0.563000	0.77884	TCA		0.353	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		49	78	0	0	0	1	0	49	78					T	25268628	C	T	25268628	3	4	355	1	0	0	0	0	1	0	0	0	1122	838	29	2	1484	2	ATP12A	13	25268628	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		25268628	89901250	81	33603											
LNX2	222484	broad.mit.edu	37	chr13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggcaaatatggcagaCtaggtcatcatccacttcat	8	9	3	2	rs368444726		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	ENST00000316334.3	-	2	274	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	49					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(145-147)Gtc>Ctc		ligand of numb-protein X 2		C	LEU/VAL	0,4406		0,0,2203	145	123	130		145	6.1	1	13		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	LNX2	NM_153371.3	32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	49/691	28155696	1,13005	2203	4300	6503	SO:0001583	missense	0						zinc ion binding	g.chr13:28155696C>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.145G>C	13.37:g.28155696C>G	ENSP00000325929:p.Val49Leu						p.V49L	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	2	274	-		Lung SC(185;0.0156)	49					Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.145G>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920941	0.92249	0.0	1.16E-4	ENSG00000139517	ENST00000316334	T	0.15718	2.4	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	N	0.08118	0	0.80722	D	1	P	0.41597	0.756	B	0.42882	0.401	T	0.07481	-1.0770	10	0.48119	T	0.1	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	49	Q8N448	LNX2_HUMAN	L	49	ENSP00000325929:V49L	ENSP00000325929:V49L	V	-	1	0	LNX2	27053696	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.657000	0.61490	2.882000	0.98803	0.655000	0.94253	GTC		0.443	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			4	109	0	0	0	1	0	4	109					G	28155696	C	G	28155696	3	3	355	1	0	0	0	0	1	0	0	0	8866	565	20	4	1963	4	LNX2	13	28155696	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2887068	28155696	87014182	82	33604											
KL	9365	broad.mit.edu	37	chr13	33591133	33591133	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcgggagctgggcgtGcagcccgtggtcaccctgta	17	13	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	ENST00000380099.3	+	1	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	185	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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 bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(553-555)gtG>gtC		klotho							6	7	7					13																	33591133		2022	4023	6045	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33591133G>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.555G>C	13.37:g.33591133G>C						KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	p.V185V	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	563	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	185			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.555G>C	CCDS9347.1																																																																																				0.736	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			8	6	0	0	0	1	0	8	6					C	33591133	G	C	33591133	2	2	355	1	0	0	0	0	0	0	0	1	8331	1306	46	4		4	KL	13	33591133	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5435437	33591133	81578745	83	33605											
FARP1	10160	broad.mit.edu	37	chr13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgttcacaaacttctGcctgttcttctacaaatcac	7	11	5	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	ENST00000319562.6	+	25	3144	c.2879G>C	c.(2878-2880)tGc>tCc	p.C960S	FARP1_ENST00000376586.2_Missense_Mutation_p.C991S|FARP1_ENST00000595437.1_Missense_Mutation_p.C991S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	960	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)			ACAAACTTCTGCCTGTTCTTC	0.562											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2971-2973)tGc>tCc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							106	101	103					13																	99098434		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99098434G>C	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.2879G>C	13.37:g.99098434G>C	ENSP00000322926:p.Cys960Ser		OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1341	FARP1_ENST00000595437.1_Missense_Mutation_p.C991S|FARP1_ENST00000319562.6_Missense_Mutation_p.C960S	p.C991S			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		26	3308	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		960			PH 2.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2972G>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627649	0.87560	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.75260	-0.92;-0.92	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048687	0.85682	D	0.000000	T	0.81842	0.4908	M	0.68952	2.095	0.80722	D	1	P;B	0.52463	0.953;0.247	P;B	0.53266	0.722;0.277	T	0.83253	-0.0052	10	0.56958	D	0.05	.	19.002	0.92838	0.0:0.0:1.0:0.0	.	960;991	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	991;960	ENSP00000365771:C991S;ENSP00000322926:C960S	ENSP00000322926:C960S	C	+	2	0	FARP1	97896435	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.904000	0.87408	2.486000	0.83907	0.561000	0.74099	TGC		0.562	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		5	61	0	0	0	1	0	5	61					C	99098434	G	C	99098434	3	2	355	1	0	0	0	0	1	0	0	0	5676	1319	46	4	3196	4	FARP1	13	99098434	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	65507301	99098434	16071444	84	33606											
LIG4	3981	broad.mit.edu	37	chr13	108861247	108861247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcagagaagccatttcTtcaggagtctgctcgttaga	10	9	4	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	ENST00000356922.4	-	2	2642	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_ENST00000405925.1_Silent_p.E790E|LIG4_ENST00000442234.1_Silent_p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	790					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)					AAGCCATTTCTTCAGGAGTCT	0.388								Non-homologous end-joining																														ENST00000356922.4																			0				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						c.(2368-2370)gaA>gaG	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							58	59	59					13																	108861247		2203	4300	6503	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861247T>C	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.2370A>G	13.37:g.108861247T>C						LIG4_ENST00000405925.1_Silent_p.E790E|LIG4_ENST00000442234.1_Silent_p.E790E	p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	2642	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		790					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.2370A>G	CCDS9508.1																																																																																				0.388	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		17	36	0	0	0	1	0	17	36					C	108861247	T	C	108861247	2	2	355	1	0	0	0	0	0	0	0	1	8783	1606	56	3		3	LIG4	13	108861247	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	9762813	108861247	6308631	85	33607											
HECTD1	25831	broad.mit.edu	37	chr14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C													tggccccctggtttaacccaGactttgttccatgctcacaa							TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	ENST00000399332.1	-	33	6370	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1961					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)		GTTTAACCCAGACTTTGTTCC	0.363																																						ENST00000399332.1																			0				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						c.(5881-5883)tCt>tGt		HECT domain containing E3 ubiquitin protein ligase 1							127	125	125					14																	31582665		1806	4076	5882	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31582665G>C	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.5882C>G	14.37:g.31582665G>C	ENSP00000382269:p.Ser1961Cys					HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	33	6370	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1961					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5882C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.346580|4.346580	0.82022|0.82022	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.45668	.|0.89;0.89;1.33	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.163356	.|0.39985	.|U	.|0.001213	T|T	0.37652|0.37652	0.1011|0.1011	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.983	.|P;P	.|0.50231	.|0.635;0.536	T|T	0.43861|0.43861	-0.9365|-0.9365	5|10	.|0.62326	.|D	.|0.03	-10.9412|-10.9412	20.089|20.089	0.97809|0.97809	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1961;1961	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	V|C	327|1961;1963;1961;1388	.|ENSP00000450697:S1961C;ENSP00000382269:S1961C;ENSP00000451860:S1388C	.|ENSP00000261312:S1963C	L|S	-|-	1|2	2|0	HECTD1|HECTD1	30652416|30652416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.939000|7.939000	0.87685|0.87685	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	CTG|TCT		0.363	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			4	211	0	0	0	1	0	4	211					C	31582665	G	C	31582665	3	2	355	1	0	0	0	0	1	0	0	0	7039	942	33	4	1994	4	HECTD1	14	31582665	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		31582665	75766875	86	33608	149	2									
HECTD1	25831	broad.mit.edu	37	chr14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C													cctggtttaacccagactttGttccatgctcacaaaaatcc					rs562158110		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	ENST00000399332.1	-	33	6364	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1959					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)		CCCAGACTTTGTTCCATGCTC	0.358																																						ENST00000399332.1																			0				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						c.(5875-5877)aCa>aGa		HECT domain containing E3 ubiquitin protein ligase 1							119	117	118					14																	31582671		1804	4081	5885	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31582671G>C	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.5876C>G	14.37:g.31582671G>C	ENSP00000382269:p.Thr1959Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	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)	33	6364	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1959					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5876C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.16|12.16	1.855503|1.855503	0.32791|0.32791	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.43294	.|0.95;0.95;1.5	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.368132	.|0.22840	.|U	.|0.054996	T|T	0.31949|0.31949	0.0813|0.0813	N|N	0.22421|0.22421	0.69|0.69	0.28912|0.28912	N|N	0.892638|0.892638	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.13710|0.13710	-1.0499|-1.0499	5|10	.|0.38643	.|T	.|0.18	-12.6934|-12.6934	15.5572|15.5572	0.76203|0.76203	0.0:0.1373:0.8627:0.0|0.0:0.1373:0.8627:0.0	.|.	.|1959;1959	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	E|R	325|1959;1961;1959;1386	.|ENSP00000450697:T1959R;ENSP00000382269:T1959R;ENSP00000451860:T1386R	.|ENSP00000261312:T1961R	Q|T	-|-	1|2	0|0	HECTD1|HECTD1	30652422|30652422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.050000|5.050000	0.64251|0.64251	2.752000|2.752000	0.94435|0.94435	0.557000|0.557000	0.71058|0.71058	CAA|ACA		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			4	199	0	0	0	1	0	4	199					C	31582671	G	C	31582671	3	2	355	1	0	0	0	0	1	0	0	0	7039	1377	48	4	2000	4	HECTD1	14	31582671	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6	31582671	75766869	87	33609	149	2									
TECPR2	9895	broad.mit.edu	37	chr14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctaaccttgtatgcgtcaCggcccgggctccggctatgg	12	13	2	0	rs372433998		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	ENST00000359520.7	+	6	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	237					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						GTATGCGTCACGGCCCGGGCT	0.448																																						ENST00000359520.7																			0				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						c.(709-711)Cgg>Tgg		tectonin beta-propeller repeat containing 2			TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96	103	100		709,709	1.5	0.1	14		100	0,8600		0,0,4300	no	missense,missense	TECPR2	NM_001172631.1,NM_014844.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	237/1268,237/1412	102891386	1,13005	2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102891386C>T	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.709C>T	14.37:g.102891386C>T	ENSP00000352510:p.Arg237Trp					TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W	p.R237W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			6	935	+			237					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.709C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.494247	0.44352	2.27E-4	0.0	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.26660	1.72	5.27	1.47	0.22746	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.86268	2.805	0.32018	N	0.601142	D;D	0.71674	0.998;0.993	P;P	0.60286	0.715;0.872	T	0.66544	-0.5897	10	0.87932	D	0	.	14.7202	0.69300	0.78:0.22:0.0:0.0	.	237;237	A5PKY3;O15040	.;TCPR2_HUMAN	W	237	ENSP00000352510:R237W	ENSP00000352510:R237W	R	+	1	2	TECPR2	101961139	0.906000	0.30813	0.144000	0.22314	0.121000	0.20230	1.883000	0.39658	0.155000	0.19261	0.552000	0.68991	CGG		0.448	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		5	68	0	0	0	1	0	5	68					T	102891386	C	T	102891386	3	4	355	1	0	0	0	0	1	0	0	0	15741	527	19	1	727	1	TECPR2	14	102891386	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	71308715	102891386	4458154	88	33610											
ATP10A	57194	broad.mit.edu	37	chr15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acgtggagggtgggcagagaGaggagaacctcatgctcact	16	8	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	ENST00000356865.6	-	14	2978	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	956					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)		TGGGCAGAGAGAGGAGAACCT	0.607																																						ENST00000356865.6																			0				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						c.(2866-2868)tCt>tGt		ATPase, class V, type 10A							131	118	122					15																	25940187		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940187G>C	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.2867C>G	15.37:g.25940187G>C	ENSP00000349325:p.Ser956Cys						p.S956C	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	2978	-		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)	956					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2867C>G	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289387	0.40494	.	.	ENSG00000206190	ENST00000356865	D	0.83075	-1.68	4.54	3.62	0.41486	HAD-like domain (1);	0.361824	0.35436	N	0.003209	D	0.84597	0.5507	L	0.60455	1.87	0.09310	N	0.999991	P	0.48911	0.917	P	0.51918	0.684	T	0.77619	-0.2520	10	0.59425	D	0.04	-3.0809	12.5781	0.56375	0.0807:0.0:0.9193:0.0	.	956	O60312	AT10A_HUMAN	C	956	ENSP00000349325:S956C	ENSP00000349325:S956C	S	-	2	0	ATP10A	23491280	0.984000	0.35163	0.013000	0.15412	0.317000	0.28152	4.355000	0.59424	1.138000	0.42230	-0.251000	0.11542	TCT		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		26	116	0	0	0	1	0	26	116					C	25940187	G	C	25940187	3	2	355	1	0	0	0	0	1	0	0	0	1116	942	33	4	1664	4	ATP10A	15	25940187	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		25940187	76591205	89	33611											
GCOM1	100820829	broad.mit.edu	37	chr15	57976627	57976627	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggcaggactcgtgaaattgtGatgccttctaggaactacac	11	9	1	2	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	ENST00000267853.5	+	13	1426	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_ENST00000380560.2_Silent_p.V375V|MYZAP_ENST00000380565.4_Silent_p.V416V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000572390.1_Silent_p.V416V|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Intron|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000574161.1_Silent_p.V444V			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	444					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)											GTGAAATTGTGATGCCTTCTA	0.433																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(1330-1332)gtG>gtC				G	,,,	1,4383	2.1+/-5.4	0,1,2191	121	123	122		,,1332,1248	-11.3	0	15	dbSNP_134	122	0,8584		0,0,4292	no	intron,intron,coding-synonymous,coding-synonymous	GCOM1	NM_001018090.3,NM_001018091.3,NM_001018100.3,NM_152451.6	,,,	0,1,6483	CC,CG,GG		0.0,0.0228,0.0077	,,,	,,444/467,416/439	57976627	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57976627G>C	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.1332G>C	15.37:g.57976627G>C						GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000380560.2_Silent_p.V375V|GCOM1_ENST00000380561.2_Intron|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Silent_p.V444V|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Intron|MYZAP_ENST00000380565.4_Silent_p.V416V|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000572390.1_Silent_p.V416V	p.V444V	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			13	1451	+			444					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Silent	SNP	ENST00000267853.5	37	c.1332G>C	CCDS10162.1																																																																																				0.433	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		4	164	0	0	0	1	0	4	164					C	57976627	G	C	57976627	2	2	355	1	0	0	0	0	0	0	0	1	6304	1277	45	4		4	GCOM1	15	57976627	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	32036440	57976627	44554765	90	33612											
PDCD7	10081	broad.mit.edu	37	chr15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcctccacctcctgcacaCacttcaccctccagcggtca	4	21	3	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	ENST00000204549.4	-	1	896	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	281					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(841-843)tGt>tCt		programmed cell death 7							60	58	59					15																	65425278		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425278C>G	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.842G>C	15.37:g.65425278C>G	ENSP00000204549:p.Cys281Ser						p.C281S	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	896	-			281					Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.842G>C	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	c	19.39	3.819211	0.71028	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.2	3.2	0.36748	.	0.229150	0.39909	N	0.001237	T	0.61185	0.2327	M	0.63428	1.95	0.38644	D	0.951671	D	0.56968	0.978	P	0.50659	0.647	T	0.64071	-0.6493	9	0.23891	T	0.37	-12.1772	14.5046	0.67743	0.0:1.0:0.0:0.0	.	281	Q8N8D1	PDCD7_HUMAN	S	281;66;75	.	ENSP00000204549:C281S	C	-	2	0	PDCD7	63212331	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.988000	0.56951	1.772000	0.52199	0.306000	0.20318	TGT		0.667	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	75	0	0	0	1	0	4	75					G	65425278	C	G	65425278	3	3	355	1	0	0	0	0	1	0	0	0	11625	478	17	4	635	4	PDCD7	15	65425278	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7448651	65425278	37106114	91	33613											
ARID3B	10620	broad.mit.edu	37	chr15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacccccagcgcagagCcctccaccagctggtccctc	11	20	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	ENST00000346246.5	+	9	1891	c.1660C>G	c.(1660-1662)Ccc>Gcc	p.P554A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	555	Ser-rich.					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						CAGCGCAGAGCCCTCCACCAG	0.617																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1660-1662)Ccc>Gcc		AT rich interactive domain 3B (BRIGHT-like)							41	47	45					15																	74888092		2197	4294	6491	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888092C>G		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.1660C>G	15.37:g.74888092C>G	ENSP00000343126:p.Pro554Ala						p.P554A	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1891	+			555			Ser-rich.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1660C>G	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024865	0.75390	.	.	ENSG00000179361	ENST00000346246	T	0.53206	0.63	4.4	4.4	0.53042	.	0.069936	0.56097	D	0.000022	T	0.54464	0.1860	N	0.19112	0.55	0.47994	D	0.999562	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	T	0.56938	-0.7896	10	0.40728	T	0.16	-22.3664	17.5479	0.87867	0.0:1.0:0.0:0.0	.	555;554	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	A	554	ENSP00000343126:P554A	ENSP00000343126:P554A	P	+	1	0	ARID3B	72675145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.022000	0.64078	2.446000	0.82766	0.462000	0.41574	CCC		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		6	93	0	0	0	1	0	6	93					G	74888092	C	G	74888092	3	3	355	1	0	0	0	0	1	0	0	0	917	739	26	4	1690	4	ARID3B	15	74888092	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	9462814	74888092	27643300	92	33614											
SGK269	79834	broad.mit.edu	37	chr15	77407234	77407234	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtttgaggtgctcaagaccaGagcatagctgtaagagcagc	13	8	1	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:77407234G>C	ENST00000560626.2	-	7	4980	c.4505C>G	c.(4504-4506)tCt>tGt	p.S1502C	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1502C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1502	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)										CTCAAGACCAGAGCATAGCTG	0.542																																						ENST00000560626.2																			0											c.(4504-4506)tCt>tGt		pseudopodium-enriched atypical kinase 1							61	63	63					15																	77407234		2064	4201	6265	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407234G>C		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.4505C>G	15.37:g.77407234G>C	ENSP00000452796:p.Ser1502Cys					PEAK1_ENST00000312493.4_Missense_Mutation_p.S1502C	p.S1502C			Q9H792	PEAK1_HUMAN			7	4980	-			1502			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4505C>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534994	0.45073	.	.	ENSG00000173517	ENST00000312493	T	0.67523	-0.27	5.03	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.303995	0.26457	U	0.024279	T	0.76307	0.3969	M	0.70595	2.14	0.24754	N	0.992966	D	0.76494	0.999	D	0.65323	0.934	T	0.67597	-0.5630	10	0.72032	D	0.01	-4.5434	8.1831	0.31322	0.0863:0.3013:0.6124:0.0	.	1502	Q9H792	PEAK1_HUMAN	C	1502	ENSP00000309230:S1502C	ENSP00000309230:S1502C	S	-	2	0	AC087465.1	75194289	1.000000	0.71417	0.966000	0.40874	0.920000	0.55202	3.220000	0.51207	1.110000	0.41699	0.561000	0.74099	TCT		0.542	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			35	48	0	0	0	1	0	35	48					C	77407234	G	C	77407234	3	2	355	1	0	0	0	0	1	0	0	0	14211	942	33	4	739	4	SGK269	15	77407234	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	2519142	77407234	25124158	93	33615											
CHSY1	22856	broad.mit.edu	37	chr15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgccctctggtcttggCgttggcattgatcatctcca	11	12	4	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	ENST00000254190.3	-	3	1733	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	420					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1258-1260)Gcc>Acc		chondroitin sulfate synthase 1							81	78	79					15																	101718744		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718744C>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1258G>A	15.37:g.101718744C>T	ENSP00000254190:p.Ala420Thr					CHSY1_ENST00000543813.1_5'UTR	p.A420T	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	1733	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		420					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1258G>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977121	0.92982	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16073	2.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	L	0.56769	1.78	0.80722	D	1	D	0.57899	0.981	P	0.51055	0.657	T	0.01071	-1.1461	10	0.18710	T	0.47	-51.8735	20.063	0.97692	0.0:1.0:0.0:0.0	.	420	Q86X52	CHSS1_HUMAN	T	420;148	ENSP00000254190:A420T	ENSP00000254190:A420T	A	-	1	0	CHSY1	99536267	1.000000	0.71417	0.986000	0.45419	0.912000	0.54170	7.627000	0.83176	2.735000	0.93741	0.655000	0.94253	GCC		0.577	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		22	71	0	0	0	1	0	22	71					T	101718744	C	T	101718744	3	4	355	1	0	0	0	0	1	0	0	0	3412	768	27	1	1154	1	CHSY1	15	101718744	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	24311510	101718744	812648	94	33616											
C16orf11	146325	broad.mit.edu	37	chr16	615104	615104	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccacccggcatgctgGgccctgcagcgccccaaccc	11	21	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	ENST00000409413.3	+	3	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R	NHLRC4_ENST00000424439.2_5'Flank|PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1513-1515)Ggc>Cgc		chromosome 16 open reading frame 11							10	13	12					16																	615104		1905	4092	5997	SO:0001583	missense	146325							g.chr16:615104G>C																												ENST00000409413.3:c.1513G>C	16.37:g.615104G>C	ENSP00000386499:p.Gly505Arg						p.G505R	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			3	1792	+			505					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.1513G>C	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258336	0.59321	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.16	1.02	0.19986	.	0.780131	0.10672	U	0.647458	T	0.48484	0.1502	L	0.47716	1.5	0.09310	N	1	D	0.61697	0.99	P	0.57152	0.814	T	0.36962	-0.9726	9	0.48119	T	0.1	.	9.6678	0.39994	0.2148:0.0:0.7852:0.0	.	505	P0CG20	CP011_HUMAN	R	505	.	ENSP00000386499:G505R	G	+	1	0	C16orf11	555105	0.598000	0.26882	0.464000	0.27143	0.062000	0.15995	0.905000	0.28504	0.407000	0.25591	0.491000	0.48974	GGC		0.741	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			22	31	0	0	0	1	0	22	31					C	615104	G	C	615104	3	2	355	1	0	0	0	0	1	0	0	0	1810	1232	43	4	1519	4	C16orf11	16	615104	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		615104	89739649	95	33617											
TSC2	7249	broad.mit.edu	37	chr16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaacctgcccttcgtggCccgccagatggccctgcacg	11	19	0	1	rs137854136|rs137854196|rs45517394		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	ENST00000219476.3	+	40	5765	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G|TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|MIR1225_ENST00000408729.1_RNA	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1712	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.		A -> E (in TSC2). {ECO:0000269|PubMed:8824881}.		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)				CCCTTCGTGGCCCGCCAGATG	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				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	GRCh37	CM961390	TSC2	M	rs45517394	c.(5134-5136)gCc>gGc		tuberous sclerosis 2							92	86	88					16																	2138115		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2138115C>G	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.5135C>G	16.37:g.2138115C>G	ENSP00000219476:p.Ala1712Gly					TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G|TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G	p.A1712G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			40	5765	+		Hepatocellular(780;0.0202)	1712		A -> E (in TSC2).	Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.5135C>G	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732189	0.30684	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.51	4.51	0.55191	Rap/ran-GAP (2);	0.144445	0.46145	D	0.000311	D	0.95535	0.8549	L	0.38175	1.15	0.51012	D	0.999904	B;B;B;B;B;B;D	0.69078	0.003;0.008;0.002;0.045;0.002;0.002;0.997	B;B;B;B;B;B;D	0.77004	0.014;0.006;0.008;0.049;0.008;0.008;0.989	D	0.96428	0.9317	10	0.72032	D	0.01	-18.0467	17.2455	0.87027	0.0:1.0:0.0:0.0	.	1597;1609;1689;487;1668;1645;1712	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	G	1712;1646;1669;1609;1597;1689	ENSP00000219476:A1712G;ENSP00000248099:A1669G;ENSP00000399232:A1609G;ENSP00000371978:A1597G;ENSP00000344383:A1689G	ENSP00000219476:A1712G	A	+	2	0	TSC2	2078116	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.668000	0.61568	2.065000	0.61736	0.313000	0.20887	GCC		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		71	107	0	0	0	1	0	71	107					G	2138115	C	G	2138115	3	3	355	1	0	0	0	0	1	0	0	0	16603	739	26	4	5289	4	TSC2	16	2138115	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1523011	2138115	88216638	96	33618											
ZFHX3	463	broad.mit.edu	37	chr16	72991939	72991939	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggctgcccgcttttgcagtaGacacaggagccccccggctc	12	16	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	ENST00000268489.5	-	2	2778	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	702					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)				TTTTGCAGTAGACACAGGAGC	0.597																																						ENST00000268489.5																			0				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						c.(2104-2106)gtC>gtG		zinc finger homeobox 3							55	63	60					16																	72991939		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991939G>C	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.2106C>G	16.37:g.72991939G>C						ZFHX3_ENST00000397992.5_Intron	p.V702V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2778	-		Ovarian(137;0.13)	702					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2106C>G	CCDS10908.1																																																																																				0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		13	164	0	0	0	1	0	13	164					C	72991939	G	C	72991939	2	2	355	1	0	0	0	0	0	0	0	1	17631	929	33	4		4	ZFHX3	16	72991939	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	70853824	72991939	17362814	97	33619											
MAF	4094	broad.mit.edu	37	chr16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caggggactggtgggcaggtCggagttgctcattgccagtt	17	8	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	ENST00000393350.1	-	1	842	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	11					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612			T	IGH@	MM																																	ENST00000393350.1				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10						c.(31-33)Gac>Cac		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog							34	41	39					16																	79633769		2188	4286	6474	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633769C>G		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.31G>C	16.37:g.79633769C>G	ENSP00000377019:p.Asp11His					MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	842	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	11					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.31G>C	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061108	0.36373	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.97731	-4.51;-4.5	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	L	0.27053	0.805	0.42344	D	0.992344	D;D	0.89917	0.999;1.0	D;D	0.72338	0.948;0.977	D	0.99218	1.0878	10	0.87932	D	0	-1.5394	16.2332	0.82358	0.0:1.0:0.0:0.0	.	11;11	O75444;O75444-1	MAF_HUMAN;.	H	11	ENSP00000327048:D11H;ENSP00000377019:D11H	ENSP00000327048:D11H	D	-	1	0	MAF	78191270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.257000	0.65473	1.891000	0.54761	0.638000	0.83543	GAC		0.612	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			30	68	0	0	0	1	0	30	68					G	79633769	C	G	79633769	3	3	355	1	0	0	0	0	1	0	0	0	9155	884	31	4	1192	4	MAF	16	79633769	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6641830	79633769	10720984	98	33620											
AIPL1	23746	broad.mit.edu	37	chr17	6331637	6331637	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccaaccccagccccaCctgcagcagctcgatcacaa	6	21	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	ENST00000381129.3	-	3	546		c.e3+1		AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Splice_Site	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1						negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.e3+1		aryl hydrocarbon receptor interacting protein-like 1							59	52	54					17																	6331637		2203	4300	6503	SO:0001630	splice_region_variant	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6331637C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"aryl hydrocarbon receptor-interacting protein-like 1"	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.465+1G>A	17.37:g.6331637C>T						AIPL1_ENST00000574506.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site		NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	546	-								D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Splice_Site	SNP	ENST00000381129.3	37		CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880445	0.72294	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000444243	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4759	0.84132	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AIPL1	6272361	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.426000	0.80270	2.560000	0.86352	0.561000	0.74099	.		0.657	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336	Intron	53	19	0	0	0	1	0	53	19					T	6331637	C	T	6331637	5	4	355	1	0	0	0	0	0	0	1	0	436	521	18	2	704	2	AIPL1	17	6331637	Splice_Site	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6331637	74863573	99	33621											
TP53	7157	broad.mit.edu	37	chr17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgttccgtcccAgtagattaccactactcagg	7	14	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	ENST00000269305.4	-	8	983	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L265P|TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P	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	265	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)	GTTCCGTCCCAGTAGATTACC	0.522		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		42	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(3)|Deletion - Frameshift(3)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(1)	large_intestine(6)|lung(5)|oesophagus(5)|breast(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|upper_aerodigestive_tract(2)|stomach(2)|urinary_tract(2)|small_intestine(1)|skin(1)|eye(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	GRCh37	CD004355|CM971505	TP53	D|M		c.(793-795)cTg>cCg	Other conserved DNA damage response genes	tumor protein p53							46	41	43					17																	7577144		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577144A>G	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.794T>C	17.37:g.7577144A>G	ENSP00000269305:p.Leu265Pro	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P|TP53_ENST00000269305.4_Missense_Mutation_p.L265P|TP53_ENST00000445888.2_Missense_Mutation_p.L265P	p.L265P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	926	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	265		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.794T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724991	0.68959	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99878	-7.42;-7.42;-7.42;-7.42;-7.42;-7.42	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	0.64402	D	0.000001	D	0.99849	0.9930	M	0.87827	2.91	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;0.999;1.0;1.0	D	0.96469	0.9347	10	0.87932	D	0	-15.8832	12.9367	0.58319	1.0:0.0:0.0:0.0	.	265;265;265;265	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	265;265;265;265;265;254;133	ENSP00000352610:L265P;ENSP00000269305:L265P;ENSP00000398846:L265P;ENSP00000391127:L265P;ENSP00000391478:L265P;ENSP00000425104:L133P	ENSP00000269305:L265P	L	-	2	0	TP53	7517869	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	9.060000	0.93907	2.154000	0.67381	0.379000	0.24179	CTG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	4	0	0	0	1	0	27	4					G	7577144	A	G	7577144	3	3	355	1	0	0	0	0	1	0	0	0	16378	188	7	3	492	3	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	1245507	7577144	73618066	100	33622											
MYH4	4622	broad.mit.edu	37	chr17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-													tgctgcacagtctggcctttGgttacgaactcattgccgac							TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	ENST00000255381.2	-	13	1355	c.1245delC	c.(1243-1245)accfs	p.T415fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	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						TCTGGCCTTTGGTTACGAACT	0.428																																						ENST00000255381.2																			0				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						c.(1243-1245)acfs		myosin, heavy chain 4, skeletal muscle							122	111	115					17																	10363541		2203	4300	6503	SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363541delG		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.1245delC	17.37:g.10363541delG	ENSP00000255381:p.Thr415fs					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.T415fs	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			13	1355	-			415			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000255381.2	37	c.1245delC	CCDS11154.1																																																																																				0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		29	108						29	108	---	---	---	---	-	10363541	G	-	10363541	7	5	355	1	0	1	0	1	0	0	0	0	10037	1335	47	0	4686	0	MYH4	17	10363541	Frame_Shift_Del	DEL	G	TCGA-P5-A5EV-01A-11D-A27K-08	2786397	10363541	70831669	101	33623											
IKZF3	22806	broad.mit.edu	37	chr17	37947817	37947817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgccccacactgattAcactggaatgggcgttcacc	9	12	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	ENST00000346872.3	-	5	505	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_ENST00000535189.1_Silent_p.C114C|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Silent_p.C114C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	148					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACTGATTACACTGGAATG	0.438																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(442-444)tgT>tgC		IKAROS family zinc finger 3 (Aiolos)							120	115	117					17																	37947817		2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37947817A>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.444T>C	17.37:g.37947817A>G						IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439167.2_Silent_p.C114C|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000535189.1_Silent_p.C114C	p.C148C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	505	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		148					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.444T>C	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	A	9.118	1.008344	0.19199	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.94	4.87	0.63330	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56896	-0.7903	4	.	.	.	-13.6645	9.0187	0.36186	0.8595:0.0:0.1405:0.0	.	.	.	.	A	102	.	.	V	-	2	0	IKZF3	35201343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.585000	0.46111	1.080000	0.41073	0.528000	0.53228	GTA		0.438	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		4	142	0	0	0	1	0	4	142					G	37947817	A	G	37947817	2	3	355	1	0	0	0	0	0	0	0	1	7616	389	14	3		3	IKZF3	17	37947817	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	27584276	37947817	43247393	102	33624											
HOXB5	3215	broad.mit.edu	37	chr17	46669799	46669799	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tacgcggtccgggcccttttCccgtccggcccggtcatatc	11	17	1	0	rs556018585		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	ENST00000239151.5	-	2	860	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_5'Flank|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000472863.1_5'Flank|HOXB3_ENST00000476342.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	194					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	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)			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		12231	0.0		0.001	False		,,,				2504	0.0					ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(580-582)ggG>ggC		homeobox B5							46	47	46					17																	46669799		2203	4300	6503	SO:0001819	synonymous_variant	3215					nucleus	sequence-specific DNA binding	g.chr17:46669799C>G		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.582G>C	17.37:g.46669799C>G						HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron	p.G194G	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			2	860	-			194					B2RC69|P09069|Q17RP4	Silent	SNP	ENST00000239151.5	37	c.582G>C	CCDS11530.1																																																																																				0.632	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			40	47	0	0	0	1	0	40	47					G	46669799	C	G	46669799	2	3	355	1	0	0	0	0	0	0	0	1	7304	842	30	4		4	HOXB5	17	46669799	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8721982	46669799	34525411	103	33625											
ABCA6	23460	broad.mit.edu	37	chr17	67111542	67111542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggaacagacaatccattAagaatatttagcagtgaaga	9	5	0	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	ENST00000284425.2	-	12	1755	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	527	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)					ACAATCCATTAAGAATATTTA	0.368																																						ENST00000284425.2																			0				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						c.(1579-1581)ctT>ctC		ATP-binding cassette, sub-family A (ABC1), member 6							103	102	102					17																	67111542		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111542A>G	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.1581T>C	17.37:g.67111542A>G							p.L527L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			12	1755	-	Breast(10;5.65e-12)		527			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.1581T>C	CCDS11683.1																																																																																				0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		40	65	0	0	0	1	0	40	65					G	67111542	A	G	67111542	2	3	355	1	0	0	0	0	0	0	0	1	36	349	13	3		3	ABCA6	17	67111542	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	20441743	67111542	14083668	104	33626											
GPRC5C	55890	broad.mit.edu	37	chr17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcccagagccaccaggCggccacaccgccgaaagacg	12	18	0	2	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	ENST00000392627.1	+	4	2523	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	421					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1396-1398)gCg>gTg		G protein-coupled receptor, family C, group 5, member C		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71	79	76		1298,1397	-4.9	0	17	dbSNP_134	76	0,8600		0,0,4300	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	433/454,466/487	72443103	1,13005	2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443103C>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1397C>T	17.37:g.72443103C>T	ENSP00000376403:p.Ala466Val					GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V|GPRC5C_ENST00000481232.1_3'UTR	p.A466V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			4	2523	+			421					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1397C>T	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	1.287	-0.608746	0.03717	2.27E-4	0.0	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.23754	1.89;2.23	5.72	-4.93	0.03066	.	1.193380	0.05896	N	0.629163	T	0.10078	0.0247	N	0.22421	0.69	0.18873	N	0.999985	P;B;B;B	0.35011	0.48;0.004;0.004;0.007	B;B;B;B	0.23018	0.043;0.001;0.001;0.003	T	0.23297	-1.0192	10	0.09338	T	0.73	-46.4604	4.2768	0.10813	0.3474:0.302:0.0:0.3506	.	132;421;421;433	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	V	421;466;132;433;421	ENSP00000376403:A421V;ENSP00000376405:A433V	ENSP00000262616:A132V	A	+	2	0	GPRC5C	69954698	0.002000	0.14202	0.002000	0.10522	0.028000	0.11728	0.085000	0.14912	-1.230000	0.02561	-2.030000	0.00424	GCG		0.637	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			12	179	0	0	0	1	0	12	179					T	72443103	C	T	72443103	3	4	355	1	0	0	0	0	1	0	0	0	6726	768	27	1	1419	1	GPRC5C	17	72443103	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5331561	72443103	8752107	105	33627											
LAMA3	3909	broad.mit.edu	37	chr18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctcattccatttggacccaGccaatctcaagggttgtacc	8	13	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	ENST00000313654.9	+	34	4583	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1448	Domain III B.|Laminin EGF-like 12. {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)					TTTGGACCCAGCCAATCTCAA	0.413																																						ENST00000313654.9																			0				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						c.(4342-4344)Gcc>Ccc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						166	152	156					18																	21438713		1920	4134	6054	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21438713G>C	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.4342G>C	18.37:g.21438713G>C	ENSP00000324532:p.Ala1448Pro					LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			34	4583	+	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)		1448			Domain III B.|Laminin EGF-like 12.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4342G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773960	0.69992	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62105	0.05;0.05	5.47	2.11	0.27256	EGF-like, laminin (4);Growth factor, receptor (1);	.	.	.	.	T	0.68229	0.2978	M	0.89214	3.015	0.58432	D	0.999999	P;P	0.52316	0.952;0.849	P;P	0.51701	0.677;0.56	T	0.64909	-0.6296	9	0.30854	T	0.27	.	2.6741	0.05076	0.3148:0.0:0.2881:0.3972	.	1448;1448	Q6VU67;Q16787	.;LAMA3_HUMAN	P	1448;1448;1446	ENSP00000324532:A1448P;ENSP00000382432:A1448P	ENSP00000324532:A1448P	A	+	1	0	LAMA3	19692711	0.296000	0.24398	0.965000	0.40720	0.962000	0.63368	1.369000	0.34227	0.613000	0.30089	0.561000	0.74099	GCC		0.413	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	111	0	0	0	1	0	4	111					C	21438713	G	C	21438713	3	2	355	1	0	0	0	0	1	0	0	0	8607	971	34	4	4476	4	LAMA3	18	21438713	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		21438713	56638535	106	33628											
MYO5B	4645	broad.mit.edu	37	chr18	47383224	47383224	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggccaagccgagttcTccatcttcatttaaatatcc	7	11	3	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	ENST00000285039.7	-	30	4280	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_ENST00000324581.6_Intron	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1327					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3979-3981)ggA>ggC		myosin VB							115	116	116					18																	47383224		1938	4143	6081	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47383224T>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3981A>C	18.37:g.47383224T>G						MYO5B_ENST00000324581.6_Intron	p.G1327G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	30	4280	-			1327					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.3981A>C	CCDS42436.1																																																																																				0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			23	35	0	0	0	1	0	23	35					G	47383224	T	G	47383224	2	3	355	1	0	0	0	0	0	0	0	1	10079	1538	54	5		5	MYO5B	18	47383224	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25944511	47383224	30694024	107	33629											
SALL3	27164	broad.mit.edu	37	chr18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgcccaatgtgtcggtgttcGagcccaaagccagcgccgag	13	14	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	ENST00000537592.2	+	2	1222	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q|SALL3_ENST00000536229.3_Missense_Mutation_p.E275Q	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					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)		GTCGGTGTTCGAGCCCAAAGC	0.657																																						ENST00000536229.3																			0				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						c.(823-825)Gag>Cag		spalt-like transcription factor 3							24	18	20					18																	76753213		2201	4297	6498	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753213G>C	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.1222G>C	18.37:g.76753213G>C	ENSP00000441823:p.Glu408Gln					SALL3_ENST00000537592.2_Missense_Mutation_p.E408Q|SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q	p.E275Q			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1532	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	408					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.823G>C	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290276	0.40494	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10005	2.92	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000030	T	0.33876	0.0878	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.67145	0.996;0.983	D;P	0.66979	0.948;0.701	T	0.16276	-1.0408	10	0.22706	T	0.39	-49.2422	17.489	0.87698	0.0:0.0:1.0:0.0	.	140;408	F5GXY4;Q9BXA9	.;SALL3_HUMAN	Q	408;408;140	ENSP00000441823:E408Q	ENSP00000299466:E408Q	E	+	1	0	SALL3	74854201	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.575000	0.98187	2.352000	0.79861	0.460000	0.39030	GAG		0.657	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		9	20	0	0	0	1	0	9	20					C	76753213	G	C	76753213	3	2	355	1	0	0	0	0	1	0	0	0	13812	1059	37	4	1228	4	SALL3	18	76753213	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	29369989	76753213	1324035	108	33630											
TXNL4A	10907	broad.mit.edu	37	chr18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtacaggacctcgtccatCttcatgcacgtaggatccca	8	14	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	ENST00000269601.5	-	1	320	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_ENST00000592957.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000585474.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	40					gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)				breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667																																					Ovarian(160;2333 2597 11821 36245)	ENST00000269601.5																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(118-120)aaG>aaC		thioredoxin-like 4A							75	51	59					18																	77748273		2203	4300	6503	SO:0001583	missense	10907				cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding	g.chr18:77748273C>G	AF023612	CCDS32852.1	18q23	2013-07-16	2004-08-11	2004-08-12		ENSG00000141759			30551	protein-coding gene	gene with protein product	"similar to S. pombe dim1+"	611595	"thioredoxin-like 4"	TXNL4		11015569	Standard	NM_006701		Approved	U5-15kD, DIM1, HsT161, DIB1, SNRNP15	uc002lnp.3	P83876		ENST00000269601.5:c.120G>C	18.37:g.77748273C>G	ENSP00000269601:p.Lys40Asn					TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000592957.1_Intron	p.K40N	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)	1	320	-		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)	40					B2RC18|O14834	Missense_Mutation	SNP	ENST00000269601.5	37	c.120G>C	CCDS32852.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611034	0.28712	.	.	ENSG00000141759	ENST00000269601;ENST00000355491	.	.	.	4.45	-1.74	0.08056	Thioredoxin-like fold (2);	0.052127	0.64402	U	0.000001	T	0.63414	0.2509	M	0.75264	2.295	0.50813	D	0.999893	P;B	0.34699	0.464;0.108	B;B	0.42593	0.392;0.122	T	0.63107	-0.6711	9	0.54805	T	0.06	-19.1606	11.1691	0.48560	0.0:0.4042:0.0:0.5958	.	40;40	O14835;P83876	.;TXN4A_HUMAN	N	40	.	ENSP00000269601:K40N	K	-	3	2	TXNL4A	75849261	0.993000	0.37304	0.995000	0.50966	0.243000	0.25628	0.194000	0.17135	-0.314000	0.08716	-0.302000	0.09304	AAG		0.667	TXNL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451036.1	NM_006701		7	18	0	0	0	1	0	7	18					G	77748273	C	G	77748273	3	3	355	1	0	0	0	0	1	0	0	0	16802	912	32	4	320	4	TXNL4A	18	77748273	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	995060	77748273	328975	109	33631											
MYO1F	4542	broad.mit.edu	37	chr19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggagatcttgcccccatCtggctccccacctcggctga	10	16	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	ENST00000338257.8	-	7	814	c.547G>C	c.(547-549)Gat>Cat	p.D183H	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	183	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(547-549)Gat>Cat		myosin IF							101	103	102					19																	8617006		1975	4196	6171	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8617006C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.547G>C	19.37:g.8617006C>G	ENSP00000344871:p.Asp183His						p.D183H	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			7	814	-			183			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.547G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557587	0.65425	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87103	-2.21	3.93	3.93	0.45458	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	M	0.71036	2.16	0.80722	D	1	P;D;D	0.64830	0.923;0.987;0.994	P;D;D	0.64687	0.796;0.928;0.928	D	0.89949	0.4078	10	0.27082	T	0.32	.	15.1284	0.72500	0.0:1.0:0.0:0.0	.	183;183;183	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	H	228;183	ENSP00000344871:D183H	ENSP00000304899:D228H	D	-	1	0	MYO1F	8523006	1.000000	0.71417	0.434000	0.26772	0.682000	0.39822	7.651000	0.83577	2.048000	0.60808	0.460000	0.39030	GAT		0.552	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			78	124	0	0	0	1	0	78	124					G	8617006	C	G	8617006	3	3	355	1	0	0	0	0	1	0	0	0	10073	913	32	4	2837	4	MYO1F	19	8617006	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		8617006	50511977	110	33632											
MUC16	94025	broad.mit.edu	37	chr19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccagcacctctactcacaaGagtggttatctctgagtgtg	9	12	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	ENST00000397910.4	-	3	22311	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7372	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)				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						CTACTCACAAGAGTGGTTATC	0.493																																						ENST00000397910.4																			0				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						c.(22108-22110)Ctt>Gtt		mucin 16, cell surface associated							87	91	90					19																	9065338		2020	4169	6189	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065338G>C	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.22108C>G	19.37:g.9065338G>C	ENSP00000381008:p.Leu7370Val						p.L7370V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22311	-			7372			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22108C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.342	-0.593863	0.03771	.	.	ENSG00000181143	ENST00000397910	T	0.32272	1.46	2.44	-4.89	0.03103	.	.	.	.	.	T	0.17534	0.0421	L	0.27053	0.805	.	.	.	P	0.39424	0.673	B	0.38755	0.281	T	0.12630	-1.0540	8	0.87932	D	0	.	4.6962	0.12804	0.225:0.0:0.1874:0.5876	.	7370	B5ME49	.	V	7370	ENSP00000381008:L7370V	ENSP00000381008:L7370V	L	-	1	0	MUC16	8926338	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.020000	0.01441	-1.915000	0.01077	-1.568000	0.00874	CTT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	50	0	0	0	1	0	5	50					C	9065338	G	C	9065338	3	2	355	1	0	0	0	0	1	0	0	0	9973	942	33	4	21743	4	MUC16	19	9065338	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	448332	9065338	50063645	111	33633											
MUC16	94025	broad.mit.edu	37	chr19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagggaaaacccagagctgGtttcttccacagggggagtt	13	9	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	ENST00000397910.4	-	3	17086	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5630	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						CCCAGAGCTGGTTTCTTCCAC	0.537																																						ENST00000397910.4																			0				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						c.(16882-16884)aCc>aGc		mucin 16, cell surface associated							67	67	67					19																	9070563		1922	4127	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070563G>C	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.16883C>G	19.37:g.9070563G>C	ENSP00000381008:p.Thr5628Ser						p.T5628S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17086	-			5630			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16883C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.542	-0.093555	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	1.41	-1.33	0.09172	.	.	.	.	.	T	0.14485	0.0350	L	0.29908	0.895	.	.	.	B	0.23540	0.087	B	0.14023	0.01	T	0.24584	-1.0156	8	0.87932	D	0	.	2.5324	0.04706	0.2499:0.31:0.4401:0.0	.	5628	B5ME49	.	S	5628	ENSP00000381008:T5628S	ENSP00000381008:T5628S	T	-	2	0	MUC16	8931563	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.051000	0.11885	-0.293000	0.08986	0.306000	0.20318	ACC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	47	0	0	0	1	0	3	47					C	9070563	G	C	9070563	3	2	355	1	0	0	0	0	1	0	0	0	9973	1261	44	4	26968	4	MUC16	19	9070563	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5225	9070563	50058420	112	33634											
SIGLEC6	946	broad.mit.edu	37	chr19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctggaagggtagtggGcaatctgcagggtacgagga	19	6	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	ENST00000425629.3	-	2	314	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(160-162)Ccc>Acc		sialic acid binding Ig-like lectin 6							70	75	74					19																	52034681		2195	4297	6492	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034681G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.160C>A	19.37:g.52034681G>T	ENSP00000401502:p.Pro54Thr					SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T	p.P54T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	228	-		all_neural(266;0.0199)	54			Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.160C>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303440	0.05495	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29620	0.0739	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B;B	0.17852	0.005;0.006;0.005;0.01;0.019;0.024	B;B;B;B;B;B	0.17433	0.001;0.005;0.003;0.018;0.005;0.004	T	0.17289	-1.0374	9	0.27082	T	0.32	.	6.1431	0.20271	0.2016:0.4493:0.3491:0.0	.	54;54;54;54;54;54	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	T	43;54;54;54;54;54	ENSP00000375674:P54T;ENSP00000401502:P54T;ENSP00000353071:P54T;ENSP00000345907:P54T	ENSP00000345907:P54T	P	-	1	0	SIGLEC6	56726493	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	0.071000	0.14594	-1.660000	0.01486	0.194000	0.17425	CCC		0.597	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	27	1	0	3.99451e-17	1	4.12678e-17	32	27					T	52034681	G	T	52034681	3	4	355	1	0	0	0	0	1	0	0	0	14312	1203	42	4	1262	4	SIGLEC6	19	52034681	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	42964118	52034681	7094302	113	33635											
ZNF71	58491	broad.mit.edu	37	chr19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgagaagccgtacaggtgcgGccagtgcgggaagtccttca	15	11	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	ENST00000328070.6	+	3	1556	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	441					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)		TACAGGTGCGGCCAGTGCGGG	0.647																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1321-1323)gGc>gCc		zinc finger protein 71							70	59	63					19																	57133977		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133977G>C	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.1322G>C	19.37:g.57133977G>C	ENSP00000328245:p.Gly441Ala						p.G441A	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1556	+			441					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1322G>C	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407197	0.25378	.	.	ENSG00000197951	ENST00000328070	T	0.07114	3.22	3.82	-7.65	0.01281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46233	-0.9206	9	0.45353	T	0.12	.	8.9373	0.35708	0.3392:0.5311:0.1297:0.0	.	441	Q9NQZ8	ZNF71_HUMAN	A	441	ENSP00000328245:G441A	ENSP00000328245:G441A	G	+	2	0	ZNF71	61825789	0.000000	0.05858	0.022000	0.16811	0.734000	0.41952	-3.443000	0.00469	-0.877000	0.04012	0.561000	0.74099	GGC		0.647	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		5	63	0	0	0	1	0	5	63					C	57133977	G	C	57133977	3	2	355	1	0	0	0	0	1	0	0	0	18111	1203	42	4	1324	4	ZNF71	19	57133977	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5099296	57133977	1995006	114	33636											
C20orf29	55317	broad.mit.edu	37	chr20	3802937	3802937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagattttagctgtggCcaggtaaccacacagcccag	11	11	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:3802937C>T	ENST00000246041.2	+	2	392	c.173C>T	c.(172-174)gCc>gTc	p.A58V	AP5S1_ENST00000379567.2_Missense_Mutation_p.A58V|AP5S1_ENST00000379573.2_Missense_Mutation_p.A58V			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	58					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											TTAGCTGTGGCCAGGTAACCA	0.547																																						ENST00000379573.2																			0											c.(172-174)gCc>gTc		adaptor-related protein complex 5, sigma 1 subunit							51	49	50					20																	3802937		2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3802937C>T	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"chromosome 20 open reading frame 29"	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.173C>T	20.37:g.3802937C>T	ENSP00000246041:p.Ala58Val					AP5S1_ENST00000379567.2_Missense_Mutation_p.A58V|AP5S1_ENST00000246041.2_Missense_Mutation_p.A58V	p.A58V	NM_001204446.1|NM_018347.2	NP_001191375.1|NP_060817.1	Q9NUS5	CT029_HUMAN			2	417	+			58					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.173C>T	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985301	0.93044	.	.	ENSG00000125843	ENST00000379573;ENST00000379567;ENST00000455742;ENST00000246041	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.70275	2.135	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79087	-0.1947	9	0.72032	D	0.01	-21.4516	14.3066	0.66389	0.0:1.0:0.0:0.0	.	58	Q9NUS5	CT029_HUMAN	V	58	.	ENSP00000246041:A58V	A	+	2	0	C20orf29	3750937	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.141000	0.58038	2.756000	0.94617	0.561000	0.74099	GCC		0.547	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		23	62	0	0	0	1	0	23	62					T	3802937	C	T	3802937	3	4	355	1	0	0	0	0	1	0	0	0	2108	739	26	2	175	2	C20orf29	20	3802937	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		3802937	59222583	115	33637											
NKX2-2	4821	broad.mit.edu	37	chr20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccgcctggaaggtggCggctgccaggtcctgggctt	16	12	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	ENST00000377142.4	-	2	1032	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	226					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(676-678)Gcc>Acc		NK2 homeobox 2							37	40	39					20																	21492707		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492707C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.676G>A	20.37:g.21492707C>T	ENSP00000366347:p.Ala226Thr					NKX2-2-AS1_ENST00000549659.1_RNA	p.A226T	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	1032	-			226						Missense_Mutation	SNP	ENST00000377142.4	37	c.676G>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966794	0.53507	.	.	ENSG00000125820	ENST00000377142	D	0.91124	-2.79	5.35	4.41	0.53225	.	0.051682	0.85682	N	0.000000	T	0.81123	0.4757	L	0.32530	0.975	0.45452	D	0.998425	P	0.40107	0.703	B	0.23150	0.044	T	0.78763	-0.2077	10	0.18710	T	0.47	.	13.8673	0.63596	0.0:0.9262:0.0:0.0738	.	226	O95096	NKX22_HUMAN	T	226	ENSP00000366347:A226T	ENSP00000366347:A226T	A	-	1	0	NKX2-2	21440707	0.999000	0.42202	0.957000	0.39632	0.988000	0.76386	4.031000	0.57267	1.247000	0.43917	0.462000	0.41574	GCC		0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			4	109	0	0	0	1	0	4	109					T	21492707	C	T	21492707	3	4	355	1	0	0	0	0	1	0	0	0	10450	768	27	1	149	1	NKX2-2	20	21492707	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	17689770	21492707	41532813	116	33638											
ZNFX1	57169	broad.mit.edu	37	chr20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cagatagatagcagtgctgtCgtattttccagaaatgatat	9	6	0	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	ENST00000396105.1	-	3	1333	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	363							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1087-1089)Gac>Cac		zinc finger, NFX1-type containing 1							129	123	125					20																	47887262		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887262C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1087G>C	20.37:g.47887262C>G	ENSP00000379412:p.Asp363His					ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H	p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1333	-			363					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1087G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122612	0.37436	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87334	-1.93;-2.24;-2.24;-0.86;-1.61	6.06	6.06	0.98353	.	0.320958	0.38720	N	0.001591	T	0.78923	0.4360	N	0.11560	0.145	0.29388	N	0.862843	P	0.39903	0.694	B	0.38296	0.27	T	0.76631	-0.2888	10	0.46703	T	0.11	-10.164	19.1847	0.93639	0.0:1.0:0.0:0.0	.	363	Q9P2E3	ZNFX1_HUMAN	H	363;363;363;363;363;167	ENSP00000360819:D363H;ENSP00000360817:D363H;ENSP00000379412:D363H;ENSP00000360809:D363H;ENSP00000413800:D167H	ENSP00000360809:D363H	D	-	1	0	ZNFX1	47320669	0.997000	0.39634	0.996000	0.52242	0.985000	0.73830	3.140000	0.50585	2.882000	0.98803	0.655000	0.94253	GAC		0.473	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		10	166	0	0	0	1	0	10	166					G	47887262	C	G	47887262	3	3	355	1	0	0	0	0	1	0	0	0	18202	884	31	4	4717	4	ZNFX1	20	47887262	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26394555	47887262	15138258	117	33639											
IFNAR1	3454	broad.mit.edu	37	chr21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggtgtcagaatattaCtagtaccaaatgcaactttt	8	7	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	ENST00000270139.3	+	3	400	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S|IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	83	Fibronectin type-III 1. {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)"	CAGAATATTACTAGTACCAAA	0.308																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(247-249)aCt>aGt		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						68	71	70					21																	34713352		2203	4298	6501	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34713352C>G		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.248C>G	21.37:g.34713352C>G	ENSP00000270139:p.Thr83Ser					IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S|IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S	p.T83S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			3	400	+			83					B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.248C>G	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385520	0.25031	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442071;ENST00000442357	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.49	2.71	0.32032	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.925487	0.09315	N	0.819081	T	0.70710	0.3255	M	0.64676	1.99	0.09310	N	1	B	0.22480	0.07	B	0.29524	0.103	T	0.56492	-0.7970	10	0.26408	T	0.33	-2.2387	7.7984	0.29160	0.0:0.7539:0.0:0.2461	.	83	P17181	INAR1_HUMAN	S	14;83;83;83	ENSP00000395606:T14S;ENSP00000270139:T83S;ENSP00000400161:T83S;ENSP00000407406:T83S	ENSP00000270139:T83S	T	+	2	0	IFNAR1	33635222	0.002000	0.14202	0.000000	0.03702	0.356000	0.29392	0.974000	0.29436	0.283000	0.22279	0.563000	0.77884	ACT		0.308	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			3	28	0	0	0	1	0	3	28					G	34713352	C	G	34713352	3	3	355	1	0	0	0	0	1	0	0	0	7544	565	20	4	258	4	IFNAR1	21	34713352	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		34713352	13416543	118	33640											
SON	6651	broad.mit.edu	37	chr21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgttccaaatcttctgaacAcaaatcacgcaagcgtacca	6	13	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	ENST00000356577.4	+	3	5976	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_ENST00000290239.6_Missense_Mutation_p.H1834R|SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000300278.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1834					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(5500-5502)cAc>cGc		SON DNA binding protein							86	87	86					21																	34927038		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927038A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5501A>G	21.37:g.34927038A>G	ENSP00000348984:p.His1834Arg					SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H1834R|SON_ENST00000300278.4_Missense_Mutation_p.H1834R	p.H1834R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	5976	+			1834					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5501A>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.73|10.73	1.433765|1.433765	0.25813|0.25813	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.17054|.	2.3;2.3;2.3;2.3|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.22322|0.22322	0.0538|0.0538	N|N	0.08118|0.08118	0|0	0.32412|0.32412	N|N	0.550485|0.550485	B;B;B;P;D|.	0.76494|.	0.42;0.158;0.244;0.756;0.999|.	B;B;B;P;D|.	0.80764|.	0.294;0.066;0.087;0.59;0.994|.	T|T	0.27434|0.27434	-1.0074|-1.0074	10|5	0.30078|.	T|.	0.28|.	.|.	5.674|5.674	0.17737|0.17737	0.7375:0.1735:0.089:0.0|0.7375:0.1735:0.089:0.0	.|.	1834;1834;1515;1834;1834|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	R|A	1834|829	ENSP00000348984:H1834R;ENSP00000290239:H1834R;ENSP00000300278:H1834R;ENSP00000371095:H1834R|.	ENSP00000290239:H1834R|.	H|T	+|+	2|1	0|0	SON|SON	33848908|33848908	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.148000|2.148000	0.42235|0.42235	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.423	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	71	0	0	0	1	0	4	71					G	34927038	A	G	34927038	3	3	355	1	0	0	0	0	1	0	0	0	14926	159	6	3	5511	3	SON	21	34927038	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	213686	34927038	13202857	119	33641											
MCAT	27349	broad.mit.edu	37	chr22	43529109	43529109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtctgcagcacatccacGgcgctgtaggacttccaggc	13	13	1	0	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	ENST00000290429.6	-	4	1158	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	371					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1111-1113)gcC>gcT		malonyl CoA:ACP acyltransferase (mitochondrial)		G	,	0,4406		0,0,2203	114	115	115		,1113	-4.7	0	22	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	no	utr-3,coding-synonymous	MCAT	NM_014507.3,NM_173467.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,371/391	43529109	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529109G>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1113C>T	22.37:g.43529109G>A						MCAT_ENST00000327555.5_3'UTR	p.A371A	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1158	-		Ovarian(80;0.0694)	371					B0QY72|O95510|O95511	Silent	SNP	ENST00000290429.6	37	c.1113C>T	CCDS33660.1																																																																																				0.617	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		5	240	0	0	0	1	0	5	240					A	43529109	G	A	43529109	2	1	355	1	0	0	0	0	0	0	0	1	9372	1103	39	1		1	MCAT	22	43529109	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		43529109	7775457	120	33642											
BRD1	23774	broad.mit.edu	37	chr22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccccagcggtcgtcatctgtCtttttgaaggcaccaccctt	8	15	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	ENST00000216267.8	-	1	1335	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	283					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(847-849)aaG>aaC		bromodomain containing 1							55	52	53					22																	50217117		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217117C>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.849G>C	22.37:g.50217117C>G	ENSP00000216267:p.Lys283Asn					BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N	p.K283N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1335	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	283					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.849G>C	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722262	0.68959	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.13	5.13	0.70059	.	0.087241	0.85682	D	0.000000	T	0.33876	0.0878	L	0.39245	1.2	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74674	0.96;0.984;0.933	T	0.01776	-1.1276	9	.	.	.	.	18.5709	0.91135	0.0:1.0:0.0:0.0	.	283;283;283	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	N	283	ENSP00000216267:K283N;ENSP00000384076:K283N;ENSP00000385858:K283N;ENSP00000410042:K283N	.	K	-	3	2	BRD1	48603121	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.589000	0.67523	2.388000	0.81334	0.563000	0.77884	AAG		0.647	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		8	108	0	0	0	1	0	8	108					G	50217117	C	G	50217117	3	3	355	1	0	0	0	0	1	0	0	0	1501	912	32	4	2375	4	BRD1	22	50217117	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6688008	50217117	1087449	121	33643											
PANX2	56666	broad.mit.edu	37	chr22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggtcaccctggtcttcaCcaagaacttcgcaggtgagg	12	12	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	ENST00000395842.2	+	1	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	71					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)		CTGGTCTTCACCAAGAACTTC	0.731																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(211-213)aCc>aGc		pannexin 2							8	8	8					22																	50609371		2155	4240	6395	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50609371C>G		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.212C>G	22.37:g.50609371C>G	ENSP00000379183:p.Thr71Ser					PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	1	212	+		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)	71					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.212C>G	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189774	0.38707	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.23950	1.88;1.88	3.46	3.46	0.39613	.	0.000000	0.64402	U	0.000001	T	0.39118	0.1066	L	0.40543	1.245	0.48901	D	0.999722	D;D	0.65815	0.994;0.995	P;D	0.66196	0.824;0.942	T	0.18999	-1.0319	10	0.42905	T	0.14	-8.128	14.9246	0.70866	0.0:1.0:0.0:0.0	.	71;71	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	S	71	ENSP00000159647:T71S;ENSP00000379183:T71S	ENSP00000159647:T71S	T	+	2	0	PANX2	48951498	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.289000	0.65656	1.474000	0.48178	0.305000	0.20034	ACC		0.731	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		3	10	0	0	0	1	0	3	10					G	50609371	C	G	50609371	3	3	355	1	0	0	0	0	1	0	0	0	11421	507	18	4	214	4	PANX2	22	50609371	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	392254	50609371	695195	122	33644											
ATRX	546	broad.mit.edu	37	chrX	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attggcaaaatccagtatgtGaagacagcactaaattttca	7	7	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	ENST00000373344.5	-	9	3924	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1237	Interaction with DAXX.				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						TCCAGTATGTGAAGACAGCAC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3709-3711)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						118	108	112					X																	76937038		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937038G>C	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.3710C>G	X.37:g.76937038G>C	ENSP00000362441:p.Ser1237*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*	p.S1237*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3924	-			1237					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.3710C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	46	12.128128	0.99638	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.357786	0.23084	N	0.052108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.4821	17.018	0.86425	0.0:0.0:1.0:0.0	.	.	.	.	X	1237;1199;1164	.	ENSP00000362441:S1237X	S	-	2	0	ATRX	76823694	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	3.406000	0.52637	2.397000	0.81536	0.513000	0.50165	TCA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		43	14	0	0	0	1	0	43	14					C	76937038	G	C	76937038	4	2	355	1	0	0	0	0	0	1	0	0	1208	1294	45	4	3876	4	ATRX	23	76937038	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		76937038	78333522	123	33645											
TMCC2	9911	broad.mit.edu	37	chr1	205210633	205210633	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctctcccccttaagAaaatccagcagctgtcagag	6	14	3	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:205210633A>G	ENST00000358024.3	+	2	597	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	70						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)			CCCCCTTAAGAAAATCCAGCA	0.557																																						ENST00000358024.3																			0				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						c.e2-1		transmembrane and coiled-coil domain family 2							31	30	31					1																	205210633		2203	4300	6503	SO:0001630	splice_region_variant	9911					integral to membrane	protein binding	g.chr1:205210633A>G	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.208-1A>G	1.37:g.205210633A>G						TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR	p.K70_splice	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	597	+	Breast(84;0.0871)		70					A2RRH3|B7Z1P7|Q6ZN09	Splice_Site	SNP	ENST00000358024.3	37	c.207_splice	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387591	0.42308	.	.	ENSG00000133069	ENST00000358024	T	0.41758	0.99	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000014	T	0.49932	0.1586	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.44267	-0.9339	9	.	.	.	.	14.2693	0.66143	1.0:0.0:0.0:0.0	.	70	O75069	TMCC2_HUMAN	E	70	ENSP00000350718:K70E	.	K	+	1	0	TMCC2	203477256	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.727000	0.74764	1.912000	0.55364	0.379000	0.24179	AAA		0.557	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858	Missense_Mutation	34	33	0	0	0	1	0	34	33					G	205210633	A	G	205210633	5	3	356	1	0	0	0	0	0	0	1	0	15990	260	9	3	214	3	TMCC2	1	205210633	Splice_Site	SNP	A	TCGA-P5-A5EW-01A-11D-A27K-08		205210633	44039988	1	33646											
OR2B11	127623	broad.mit.edu	37	chr1	247614765	247614765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttcagcacctgccgccCgcagaatggcaattgcaccg	11	14	1	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:247614765C>T	ENST00000318749.6	-	1	543	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G174R(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCTGCCGCCCGCAGAATGGC	0.597																																						ENST00000318749.6																			1	Substitution - Missense(1)	p.G174R(1)	large_intestine(1)	endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(520-522)Ggg>Agg		olfactory receptor, family 2, subfamily B, member 11							56	54	55					1																	247614765		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614765C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.520G>A	1.37:g.247614765C>T	ENSP00000325682:p.Gly174Arg						p.G174R	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	543	-	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;0.241)	174					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.520G>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358078	0.41801	.	.	ENSG00000177535	ENST00000318749	T	0.38560	1.13	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.115109	0.39146	N	0.001459	T	0.52008	0.1708	M	0.69823	2.125	0.36284	D	0.855947	D	0.62365	0.991	P	0.51742	0.678	T	0.64398	-0.6417	10	0.72032	D	0.01	.	11.7395	0.51784	0.0:0.8223:0.1777:0.0	.	174	Q5JQS5	OR2BB_HUMAN	R	174	ENSP00000325682:G174R	ENSP00000325682:G174R	G	-	1	0	OR2B11	245681388	0.000000	0.05858	0.903000	0.35520	0.010000	0.07245	0.084000	0.14891	2.749000	0.94314	0.551000	0.68910	GGG		0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		4	52	0	0	0	1	0	4	52					T	247614765	C	T	247614765	3	4	356	1	0	0	0	0	1	0	0	0	10988	652	23	1	436	1	OR2B11	1	247614765	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	42404132	247614765	1635856	2	33647											
RGPD3	653489	broad.mit.edu	37	chr2	107029596	107029596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagctgcaacatcgtaTttataacaggaagaagtctc	10	8	1	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:107029596T>C	ENST00000409886.3	-	22	5297	c.5210A>G	c.(5209-5211)aAt>aGt	p.N1737S	RGPD3_ENST00000304514.7_Missense_Mutation_p.N1737S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1737	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAACATCGTATTTATAACAGG	0.438																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(5209-5211)aAt>aGt		RANBP2-like and GRIP domain containing 3							181	136	150					2																	107029596		692	1578	2270	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107029596T>C		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.5210A>G	2.37:g.107029596T>C	ENSP00000386588:p.Asn1737Ser					RGPD3_ENST00000304514.7_Missense_Mutation_p.N1737S	p.N1737S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			22	5297	-			1737			GRIP.		B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.5210A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.550730	0.27739	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.37235	1.21;1.21	1.12	1.12	0.20585	GRIP (3);	.	.	.	.	T	0.13970	0.0338	N	0.01771	-0.73	0.24278	N	0.995219	B	0.02656	0.0	B	0.01281	0.0	T	0.19943	-1.0290	9	0.66056	D	0.02	-7.8827	6.4006	0.21636	0.0:0.0:0.0:1.0	.	1737	A6NKT7	RGPD3_HUMAN	S	111;1737;1104;1737	ENSP00000386588:N1737S;ENSP00000303659:N1737S	ENSP00000303659:N1737S	N	-	2	0	RGPD3	106396028	1.000000	0.71417	0.989000	0.46669	0.153000	0.21895	5.647000	0.67923	0.785000	0.33685	0.138000	0.15974	AAT		0.438	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		84	9	0	0	0	1	0	84	9					C	107029596	T	C	107029596	3	2	356	1	0	0	0	0	1	0	0	0	13287	1493	52	3	74	3	RGPD3	2	107029596	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		107029596	136169777	3	33648											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	29	0	0	0	1	0	23	29					T	209113112	C	T	209113112	3	4	356	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	102083516	209113112	34086261	4	33649											
CDCP1	64866	broad.mit.edu	37	chr3	45127212	45127212	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacatccccattgttgggaTgggagaaggtgtacggttca	13	7	1	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:45127212T>C	ENST00000296129.1	-	9	2563	c.2429A>G	c.(2428-2430)cAt>cGt	p.H810R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	810						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTTGGGATGGGAGAAGGT	0.552																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2428-2430)cAt>cGt		CUB domain containing protein 1							149	136	141					3																	45127212		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127212T>C	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2429A>G	3.37:g.45127212T>C	ENSP00000296129:p.His810Arg						p.H810R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2563	-			810					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2429A>G	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573241	0.65765	.	.	ENSG00000163814	ENST00000296129	T	0.36340	1.26	5.67	5.67	0.87782	.	0.231786	0.44902	D	0.000416	T	0.44477	0.1295	M	0.67953	2.075	0.80722	D	1	P	0.45827	0.867	P	0.44897	0.463	T	0.45454	-0.9260	10	0.52906	T	0.07	.	15.9124	0.79482	0.0:0.0:0.0:1.0	.	810	Q9H5V8	CDCP1_HUMAN	R	810	ENSP00000296129:H810R	ENSP00000296129:H810R	H	-	2	0	CDCP1	45102216	1.000000	0.71417	0.995000	0.50966	0.520000	0.34377	3.826000	0.55738	2.164000	0.68074	0.460000	0.39030	CAT		0.552	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		12	140	0	0	0	1	0	12	140					C	45127212	T	C	45127212	3	2	356	1	0	0	0	0	1	0	0	0	3093	1464	51	3	85	3	CDCP1	3	45127212	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		45127212	152895218	5	33650											
CHST13	166012	broad.mit.edu	37	chr3	126261320	126261320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggcagcgcgcctcttcCgggacatcagccccttctac	9	18	3	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:126261320C>T	ENST00000319340.2	+	3	975	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	309					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGCCTCTTCCGGGACATCAG	0.692																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(925-927)Cgg>Tgg		carbohydrate (chondroitin 4) sulfotransferase 13							7	8	8					3																	126261320		1716	3619	5335	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126261320C>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.925C>T	3.37:g.126261320C>T	ENSP00000317404:p.Arg309Trp						p.R309W	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	975	+			309					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.925C>T	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930831	0.34096	.	.	ENSG00000180767	ENST00000319340	T	0.74632	-0.86	3.89	2.98	0.34508	.	1.142320	0.06533	U	0.741787	T	0.81678	0.4873	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.77172	-0.2685	10	0.66056	D	0.02	-36.7653	5.4272	0.16433	0.1872:0.5163:0.2965:0.0	.	309	Q8NET6	CHSTD_HUMAN	W	309	ENSP00000317404:R309W	ENSP00000317404:R309W	R	+	1	2	CHST13	127744010	0.997000	0.39634	0.994000	0.49952	0.080000	0.17528	0.912000	0.28597	1.706000	0.51276	0.313000	0.20887	CGG		0.692	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		4	13	0	0	0	1	0	4	13					T	126261320	C	T	126261320	3	4	356	1	0	0	0	0	1	0	0	0	3401	643	23	1	935	1	CHST13	3	126261320	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	81134108	126261320	71761110	6	33651											
MEGF10	84466	broad.mit.edu	37	chr5	126776527	126776527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggcagtgtacttgccGcactggattcatgggacggc	14	10	2	0	rs565304206	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:126776527G>A	ENST00000274473.6	+	19	2597	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	777	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTACTTGCCGCACTGGATTC	0.468													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		21967	0.0		0.0	False		,,,				2504	0.002					ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2329-2331)cGc>cAc		multiple EGF-like-domains 10							146	131	136					5																	126776527		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126776527G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2330G>A	5.37:g.126776527G>A	ENSP00000274473:p.Arg777His					MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	19	2597	+		Prostate(80;0.165)	777			EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2330G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326208	0.95708	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.29397	1.57;1.57	6.03	6.03	0.97812	EGF-like, laminin (2);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42378	-0.9455	10	0.42905	T	0.14	-41.3444	20.5752	0.99366	0.0:0.0:1.0:0.0	.	777	Q96KG7	MEG10_HUMAN	H	777	ENSP00000423354:R777H;ENSP00000274473:R777H	ENSP00000274473:R777H	R	+	2	0	MEGF10	126804426	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGC		0.468	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		4	122	0	0	0	1	0	4	122					A	126776527	G	A	126776527	3	1	356	1	0	0	0	0	1	0	0	0	9460	1087	38	1	2396	1	MEGF10	5	126776527	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		126776527	54138733	7	33652											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711256	140711256	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctaaagttaaggtactgatCaaagttttggatgtaaatga	10	3	1	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:140711256C>A	ENST00000517417.1	+	1	1005	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.I335I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	335	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(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGATCAAAGTTTTGG	0.418																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1003-1005)atC>atA									69	68	69					5																	140711256		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140711256C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1005C>A	5.37:g.140711256C>A						PCDHGA1_ENST00000378105.3_Silent_p.I335I	p.I335I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1005	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1005C>A	CCDS54922.1																																																																																				0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		34	58	1	0	3.86903e-22	1	4.2873e-22	34	58					A	140711256	C	A	140711256	2	1	356	1	0	0	0	0	0	0	0	1	11550	816	29	4		4	PCDHGA1	5	140711256	Silent	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	13934729	140711256	40204004	8	33653											
GABRP	2568	broad.mit.edu	37	chr5	170236583	170236583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcccaggagtgacgaccGtgttatcaatgaccacactg	9	11	1	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:170236583G>A	ENST00000518525.1	+	10	1308	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	282					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|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)	AGTGACGACCGTGTTATCAAT	0.517											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(844-846)Gtg>Atg		gamma-aminobutyric acid (GABA) A receptor, pi							256	225	236					5																	170236583		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170236583G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.844G>A	5.37:g.170236583G>A	ENSP00000430100:p.Val282Met		OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M	p.V282M			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1308	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	282					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.844G>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952012	0.92660	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.83914	-1.78;-1.78;-1.78	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.054853	0.64402	D	0.000001	D	0.90573	0.7045	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91316	0.5078	10	0.87932	D	0	.	18.75	0.91810	0.0:0.0:1.0:0.0	.	282	O00591	GBRP_HUMAN	M	282	ENSP00000430100:V282M;ENSP00000265294:V282M;ENSP00000430772:V282M	ENSP00000265294:V282M	V	+	1	0	GABRP	170169161	1.000000	0.71417	0.760000	0.31359	0.940000	0.58332	9.869000	0.99810	2.529000	0.85273	0.655000	0.94253	GTG		0.517	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		79	78	0	0	0	1	0	79	78					A	170236583	G	A	170236583	3	1	356	1	0	0	0	0	1	0	0	0	6174	1145	40	1	874	1	GABRP	5	170236583	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	29525327	170236583	10678677	9	33654											
CYP39A1	51302	broad.mit.edu	37	chr6	46518143	46518143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattcggcattgcccttccGgctgggggacacccaccaaa	10	15	0	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr6:46518143G>A	ENST00000275016.2	-	12	1573	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	457					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|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)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGCCCTTCCGGCTGGGGGAC	0.458																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1369-1371)cCg>cTg		cytochrome P450, family 39, subfamily A, polypeptide 1							109	114	112					6																	46518143		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46518143G>A	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1370C>T	6.37:g.46518143G>A	ENSP00000275016:p.Pro457Leu						p.P457L	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			12	1573	-			457					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1370C>T	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473321	0.84640	.	.	ENSG00000146233	ENST00000275016	D	0.86497	-2.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92667	0.6146	10	0.59425	D	0.04	-13.5126	15.5954	0.76574	0.0:0.0:1.0:0.0	.	437;457	B7Z786;Q9NYL5	.;CP39A_HUMAN	L	457	ENSP00000275016:P457L	ENSP00000275016:P457L	P	-	2	0	CYP39A1	46626102	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.743000	0.62110	2.767000	0.95098	0.655000	0.94253	CCG		0.458	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			18	38	0	0	0	1	0	18	38					A	46518143	G	A	46518143	3	1	356	1	0	0	0	0	1	0	0	0	4177	1116	39	1	43	1	CYP39A1	6	46518143	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		46518143	124596924	10	33655											
FBXL6	26233	broad.mit.edu	37	chr8	145580132	145580132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctagggaagcctggtccGggagccacccctcgtcccgg	15	15	0	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr8:145580132G>A	ENST00000331890.5	-	7	1117	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P345P|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	351					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCCTGGTCCGGGAGCCACCC	0.652																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1051-1053)ccC>ccT		F-box and leucine-rich repeat protein 6							37	42	41					8																	145580132		2203	4300	6503	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580132G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"F-boxes / Leucine-rich repeats"	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1053C>T	8.37:g.145580132G>A						FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P345P	p.P351P	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	1117	-	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)		351					Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.1053C>T	CCDS6422.1																																																																																				0.652	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		59	58	0	0	0	1	0	59	58					A	145580132	G	A	145580132	2	1	356	1	0	0	0	0	0	0	0	1	5723	1103	39	1		1	FBXL6	8	145580132	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		145580132	783890	11	33656											
FAM75A6	389730	broad.mit.edu	37	chr9	43625420	43625420	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttgcatgagccttgAcagtttgggtttctgggctc	13	9	2	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr9:43625420A>G	ENST00000332857.6	-	4	3295	c.3267T>C	c.(3265-3267)tgT>tgC	p.C1089C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1089					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGAGCCTTGACAGTTTGGGT	0.507																																						ENST00000332857.6																			0											c.(3265-3267)tgT>tgC		SPATA31 subfamily A, member 6							12	11	11					9																	43625420		605	1514	2119	SO:0001819	synonymous_variant	389730							g.chr9:43625420A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3267T>C	9.37:g.43625420A>G							p.C1089C	NM_001145196.1	NP_001138668.1					4	3295	-									Silent	SNP	ENST00000332857.6	37	c.3267T>C	CCDS47973.1																																																																																				0.507	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		143	185	0	0	0	1	0	143	185					G	43625420	A	G	43625420	2	3	356	1	0	0	0	0	0	0	0	1	5622	273	10	3		3	FAM75A6	9	43625420	Silent	SNP	A	TCGA-P5-A5EW-01A-11D-A27K-08		43625420	97588011	12	33657											
LRRC32	2615	broad.mit.edu	37	chr11	76371010	76371010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagctgttgtttcgcaGgtccagcacctccagtgaca	11	12	0	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr11:76371010G>A	ENST00000407242.2	-	3	1869	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L543L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L543L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	543					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTGTTTCGCAGGTCCAGCACC	0.637																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1627-1629)Ctg>Ttg		leucine rich repeat containing 32							48	46	46					11																	76371010		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76371010G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1627C>T	11.37:g.76371010G>A						LRRC32_ENST00000260061.5_Silent_p.L543L|LRRC32_ENST00000404995.1_Silent_p.L543L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	p.L543L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1869	-			543					Q86V06	Silent	SNP	ENST00000407242.2	37	c.1627C>T	CCDS8245.1																																																																																				0.637	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		14	66	0	0	0	1	0	14	66					A	76371010	G	A	76371010	2	1	356	1	0	0	0	0	0	0	0	1	8987	991	35	2		2	LRRC32	11	76371010	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		76371010	58635506	13	33658											
FOS	2353	broad.mit.edu	37	chr14	75747676	75747676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcctgccagaggttgCcaccccggagtctgaggagg	18	11	1	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr14:75747676C>T	ENST00000303562.4	+	4	901	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V|FOS_ENST00000555347.1_Missense_Mutation_p.A83V	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	231					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|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)|nervous system development (GO:0007399)|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)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CCAGAGGTTGCCACCCCGGAG	0.607																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(691-693)gCc>gTc		FBJ murine osteosarcoma viral oncogene homolog							69	73	72					14																	75747676		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747676C>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.692C>T	14.37:g.75747676C>T	ENSP00000306245:p.Ala231Val					FOS_ENST00000555347.1_Missense_Mutation_p.A83V|FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V	p.A231V	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	901	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	231					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.692C>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217334	0.09810	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.63255	0.55;0.92;-0.03	4.96	4.05	0.47172	.	0.756082	0.12574	N	0.456991	T	0.35393	0.0930	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10359	-1.0633	10	0.26408	T	0.33	-7.8619	12.7371	0.57232	0.0:0.9191:0.0:0.0809	.	195;231	B4DQ65;P01100	.;FOS_HUMAN	V	231;195;117;81;83	ENSP00000306245:A231V;ENSP00000442268:A195V;ENSP00000452590:A117V	ENSP00000306245:A231V	A	+	2	0	FOS	74817429	0.007000	0.16637	0.931000	0.37212	0.510000	0.34073	1.980000	0.40618	2.459000	0.83118	0.563000	0.77884	GCC		0.607	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		4	153	0	0	0	1	0	4	153					T	75747676	C	T	75747676	3	4	356	1	0	0	0	0	1	0	0	0	5985	739	26	2	706	2	FOS	14	75747676	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		75747676	31601864	14	33659											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499792	59499792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaatctggatactgctcGttttcgtttcttgattggac	9	8	2	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:59499792G>A	ENST00000307144.4	+	1	751	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	218					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GATACTGCTCGTTTTCGTTTC	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(652-654)cGt>cAt		lactate dehydrogenase A-like 6B	NADH(DB00157)						83	85	85					15																	59499792		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499792G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.653G>A	15.37:g.59499792G>A	ENSP00000302393:p.Arg218His					MYO1E_ENST00000288235.4_Intron	p.R218H	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	751	+			218					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.653G>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978345	0.74360	.	.	ENSG00000171989	ENST00000307144	D	0.90676	-2.71	1.69	1.69	0.24217	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000002	D	0.95604	0.8571	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.94790	0.7961	10	0.87932	D	0	.	8.9167	0.35585	0.0:0.0:1.0:0.0	.	218	Q9BYZ2	LDH6B_HUMAN	H	218	ENSP00000302393:R218H	ENSP00000302393:R218H	R	+	2	0	LDHAL6B	57287084	1.000000	0.71417	0.003000	0.11579	0.541000	0.35023	6.111000	0.71541	0.933000	0.37291	0.305000	0.20034	CGT		0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		5	124	0	0	0	1	0	5	124					A	59499792	G	A	59499792	3	1	356	1	0	0	0	0	1	0	0	0	8700	1145	40	1	655	1	LDHAL6B	15	59499792	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		59499792	43031600	15	33660											
SCAPER	49855	broad.mit.edu	37	chr15	77087752	77087752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacctgtgggagccagaCgaggagctggcactgtgcca	15	11	0	2	rs369919523		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:77087752C>T	ENST00000563290.1	-	8	736	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	214						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						GGGAGCCAGACGAGGAGCTGG	0.418																																						ENST00000563290.1																			0				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						c.(640-642)cGt>cAt		S-phase cyclin A-associated protein in the ER		C	HIS/ARG,	1,3721		0,1,1860	65	62	63		641,	4.8	1	15		63	0,8188		0,0,4094	no	missense,utr-5	SCAPER	NM_020843.2,NM_001145923.1	29,	0,1,5954	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging,	214/1401,	77087752	1,11909	1861	4094	5955	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77087752C>T	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.641G>A	15.37:g.77087752C>T	ENSP00000454973:p.Arg214His					SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR	p.R214H			Q9BY12	SCAPE_HUMAN			8	736	-			213					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.641G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101770	0.76983	2.69E-4	0.0	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.25912	1.77	5.66	4.75	0.60458	.	0.102591	0.64402	N	0.000001	T	0.44582	0.1300	M	0.66939	2.045	0.36970	D	0.893791	D;D	0.71674	0.998;0.988	P;P	0.59288	0.855;0.646	T	0.55438	-0.8141	10	0.52906	T	0.07	.	14.509	0.67772	0.0:0.9296:0.0:0.0704	.	214;229	Q6NSF1;Q9BY12-2	.;.	H	214;230	ENSP00000326924:R214H	ENSP00000303560:R230H	R	-	2	0	SCAPER	74874807	1.000000	0.71417	0.952000	0.39060	0.868000	0.49771	3.728000	0.54991	1.411000	0.46957	-0.225000	0.12378	CGT		0.418	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		4	58	0	0	0	1	0	4	58					T	77087752	C	T	77087752	3	4	356	1	0	0	0	0	1	0	0	0	13878	536	19	1	3699	1	SCAPER	15	77087752	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	17587960	77087752	25443640	16	33661											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	2	0	0	0	1	0	42	2					T	7577120	C	T	7577120	3	4	356	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		7577120	73618090	17	33662											
ABCA7	10347	broad.mit.edu	37	chr19	1056970	1056970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatgtcctttgtcccgGccagcttcactcttgtcctc	7	16	2	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:1056970G>A	ENST00000263094.6	+	34	4882	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1551					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)		CTTTGTCCCGGCCAGCTTCAC	0.592																																						ENST00000263094.6																			0				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						c.(4651-4653)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 7							208	158	175					19																	1056970		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056970G>A	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.4651G>A	19.37:g.1056970G>A	ENSP00000263094:p.Ala1551Thr					ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T	p.A1551T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		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)	34	4882	+		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)	1551					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4651G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979158	0.92982	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.82803	-1.65;-1.65	3.92	3.92	0.45320	.	.	.	.	.	D	0.92080	0.7490	M	0.90814	3.15	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93553	0.6888	9	0.62326	D	0.03	.	14.6373	0.68699	0.0:0.0:1.0:0.0	.	676;1551	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	T	1551	ENSP00000263094:A1551T;ENSP00000414062:A1551T	ENSP00000263094:A1551T	A	+	1	0	ABCA7	1007970	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.476000	0.97823	2.032000	0.59987	0.561000	0.74099	GCC		0.592	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	144	0	0	0	1	0	4	144					A	1056970	G	A	1056970	3	1	356	1	0	0	0	0	1	0	0	0	37	1203	42	2	4781	2	ABCA7	19	1056970	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		1056970	58072013	18	33663											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	104						7	104	---	---	---	---	-	6531151	GCT	-	6531149	7	5	356	1	0	1	0	1	0	0	0	0	16309	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-P5-A5EW-01A-11D-A27K-08	5474179	6531149	52597834	19	33664											
KRI1	65095	broad.mit.edu	37	chr19	10668901	10668901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggccccgtagtactcGtccccaaagcacttctgcag	8	17	1	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:10668901G>A	ENST00000312962.6	-	13	1246	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Silent_p.D405D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	403	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGTAGTACTCGTCCCCAAAGC	0.602																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1225-1227)gaC>gaT		KRI1 homolog (S. cerevisiae)							123	88	100					19																	10668901		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10668901G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1227C>T	19.37:g.10668901G>A						KRI1_ENST00000361821.5_Silent_p.D405D	p.D409D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		13	1246	-			409			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.1227C>T	CCDS12242.1																																																																																				0.602	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		20	66	0	0	0	1	0	20	66					A	10668901	G	A	10668901	2	1	356	1	0	0	0	0	0	0	0	1	8444	1136	40	1		1	KRI1	19	10668901	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4137752	10668901	48460082	20	33665											
CCDC105	126402	broad.mit.edu	37	chr19	15133702	15133702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccgacaagctgcagtGccacatcacgtacctggaaa	11	13	1	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:15133702G>T	ENST00000292574.3	+	7	1353	c.1271G>T	c.(1270-1272)tGc>tTc	p.C424F		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	424						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGCAGTGCCACATCACG	0.617																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1270-1272)tGc>tTc		coiled-coil domain containing 105							44	33	37					19																	15133702		2203	4299	6502	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15133702G>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1271G>T	19.37:g.15133702G>T	ENSP00000292574:p.Cys424Phe						p.C424F	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			7	1353	+			424					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1271G>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	1.721	-0.496684	0.04291	.	.	ENSG00000160994	ENST00000292574	T	0.02323	4.34	4.0	0.557	0.17260	.	0.614946	0.15233	N	0.273324	T	0.01523	0.0049	N	0.08118	0	0.22412	N	0.999122	B	0.11235	0.004	B	0.01281	0.0	T	0.45338	-0.9268	10	0.56958	D	0.05	-3.4276	3.5917	0.07991	0.2369:0.2132:0.5499:0.0	.	424	Q8IYK2	CC105_HUMAN	F	424	ENSP00000292574:C424F	ENSP00000292574:C424F	C	+	2	0	CCDC105	14994702	1.000000	0.71417	0.936000	0.37596	0.200000	0.23975	1.649000	0.37281	0.424000	0.26061	0.479000	0.44913	TGC		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		9	14	1	0	3.09899e-07	1	3.25791e-07	9	14					T	15133702	G	T	15133702	3	4	356	1	0	0	0	0	1	0	0	0	2740	1319	46	4	1297	4	CCDC105	19	15133702	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4464801	15133702	43995281	21	33666											
MRPS12	6183	broad.mit.edu	37	chr19	39423018	39423018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacctgctccatggctaCcctgaaccagatgcaccgcc	9	17	0	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:39423018C>T	ENST00000407800.2	+	2	436	c.95C>T	c.(94-96)aCc>aTc	p.T32I	MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|SARS2_ENST00000600042.1_5'Flank|CTC-360G5.9_ENST00000599320.1_lincRNA|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|SARS2_ENST00000430193.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000221431.6_5'Flank	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	32					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCATGGCTACCCTGAACCAG	0.652																																						ENST00000407800.2																			0				endometrium(1)|large_intestine(1)	2						c.(94-96)aCc>aTc		mitochondrial ribosomal protein S12							39	49	46					19																	39423018		2203	4300	6503	SO:0001583	missense	6183				translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:39423018C>T	Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"Mitochondrial ribosomal proteins / small subunits"	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.95C>T	19.37:g.39423018C>T	ENSP00000384952:p.Thr32Ile					MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|SARS2_ENST00000448145.2_Intron	p.T32I	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	436	+	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		32					Q53X98	Missense_Mutation	SNP	ENST00000407800.2	37	c.95C>T	CCDS12525.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368187	0.95900	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.55052	0.54;0.54;0.54	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	H	0.97587	4.035	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.88063	0.2795	10	0.87932	D	0	-33.7221	17.825	0.88662	0.0:1.0:0.0:0.0	.	32	O15235	RT12_HUMAN	I	32	ENSP00000308845:T32I;ENSP00000384952:T32I;ENSP00000384579:T32I	ENSP00000308845:T32I	T	+	2	0	MRPS12	44114858	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.572000	0.82409	2.797000	0.96272	0.655000	0.94253	ACC		0.652	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			6	193	0	0	0	1	0	6	193					T	39423018	C	T	39423018	3	4	356	1	0	0	0	0	1	0	0	0	9823	507	18	2	101	2	MRPS12	19	39423018	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	24289316	39423018	19705965	22	33667											
PABPC1L	80336	broad.mit.edu	37	chr20	43559296	43559296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcgcctctccaccatgCggaccctgagcaaccccctc	8	20	1	1	rs200290235		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr20:43559296C>T	ENST00000217073.2	+	8	1168	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R390W|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	390					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						CTCCACCATGCGGACCCTGAG	0.647																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1168-1170)Cgg>Tgg		poly(A) binding protein, cytoplasmic 1-like		C	TRP/ARG	1,3135		0,1,1567	185	176	179		1168	3.2	1	20		179	0,7164		0,0,3582	yes	missense	PABPC1L	NM_001124756.1	101	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	benign	390/615	43559296	1,10299	1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43559296C>T	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.1168C>T	20.37:g.43559296C>T	ENSP00000217073:p.Arg390Trp					PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R390W|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	p.R390W	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			8	1250	+			390					Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.1168C>T	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811592	0.32053	3.19E-4	0.0	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.19105	2.17;2.17	5.14	3.17	0.36434	.	0.101238	0.64402	N	0.000004	T	0.22820	0.0551	M	0.77313	2.365	0.80722	D	1	B	0.27068	0.167	B	0.23419	0.046	T	0.10428	-1.0630	10	0.87932	D	0	.	5.7249	0.18008	0.2481:0.5846:0.0:0.1673	.	390	Q4VXU2	PAP1L_HUMAN	W	390	ENSP00000255136:R390W;ENSP00000217073:R390W	ENSP00000217073:R390W	R	+	1	2	PABPC1L	42992710	1.000000	0.71417	0.981000	0.43875	0.495000	0.33615	1.493000	0.35605	1.151000	0.42436	0.655000	0.94253	CGG		0.647	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			8	389	0	0	0	1	0	8	389					T	43559296	C	T	43559296	3	4	356	1	0	0	0	0	1	0	0	0	11364	759	27	1	1198	1	PABPC1L	20	43559296	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		43559296	19466224	23	33668											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	144	0	0	0	1	0	8	144					T	11058322	C	T	11058322	1	4	356	0	1	0	0	0	0	0	0	0	1292	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		11058322	37071573	24	33669											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					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)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	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.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	46	0	0	0	1	0	3	46					A	51076024	G	A	51076024	2	1	356	1	0	0	0	0	0	0	0	1	10726	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		51076024	104194536	25	33670											
OPHN1	4983	broad.mit.edu	37	chrX	67413796	67413796	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacttcatttagctccacTgtttcaagcaaaggaaaaga	6	11	2	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:67413796T>C	ENST00000355520.5	-	14	1780		c.e14-2		OPHN1_ENST00000540071.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						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						TTAGCTCCACTGTTTCAAGCA	0.408																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.e14-2		oligophrenin 1							157	122	134					X																	67413796		2203	4300	6503	SO:0001630	splice_region_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67413796T>C	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.1139-2A>G	X.37:g.67413796T>C						OPHN1_ENST00000540071.1_Splice_Site		NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			14	1780	-								B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Splice_Site	SNP	ENST00000355520.5	37		CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607911	0.66558	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4754	0.50295	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPHN1	67330521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.158000	0.71851	1.911000	0.55334	0.486000	0.48141	.		0.408	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	Intron	14	32	0	0	0	1	0	14	32					C	67413796	T	C	67413796	5	2	356	1	0	0	0	0	0	0	1	0	10875	1594	55	3	1315	3	OPHN1	23	67413796	Splice_Site	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08	16337772	67413796	87856764	26	33671											
ABCB7	22	broad.mit.edu	37	chrX	74291461	74291461	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttttcaatgaagcagtctCatacgtcttcaaaaatccat	4	10	4	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:74291461C>A	ENST00000373394.3	-	9	1097	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000253577.3_Nonsense_Mutation_p.E365*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	364	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAAGCAGTCTCATACGTCTTC	0.333																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1093-1095)Gag>Tag		ATP-binding cassette, sub-family B (MDR/TAP), member 7							106	87	94					X																	74291461		2203	4300	6503	SO:0001587	stop_gained	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74291461C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1090G>T	X.37:g.74291461C>A	ENSP00000362492:p.Glu364*					ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.E364*|ABCB7_ENST00000534570.1_5'UTR	p.E365*	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			9	1117	-			364			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Nonsense_Mutation	SNP	ENST00000373394.3	37	c.1093G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.935114	0.97948	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.5282	15.9726	0.80031	0.0:1.0:0.0:0.0	.	.	.	.	X	338;365;324;364;338	.	ENSP00000253577:E365X	E	-	1	0	ABCB7	74208186	1.000000	0.71417	0.947000	0.38551	0.931000	0.56810	7.487000	0.81328	1.961000	0.56991	0.600000	0.82982	GAG		0.333	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		23	38	1	0	1.50039e-11	1	1.61884e-11	23	38					A	74291461	C	A	74291461	4	1	356	1	0	0	0	0	0	1	0	0	46	835	29	4	1200	4	ABCB7	23	74291461	Nonsense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	6877665	74291461	80979099	27	33672											
ATRX	546	broad.mit.edu	37	chrX	76939758	76939762	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-													ccagaacaggaatcatctaaTttcttttcttctccattaca							TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:76939758_76939762delTTTCT	ENST00000373344.5	-	9	1200_1204	c.986_990delAGAAA	c.(985-990)aagaaafs	p.KK329fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	329					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						AATCATCTAATTTCTTTTCTTCTCC	0.341			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(985-990)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939758_76939762delTTTCT	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.986_990delAGAAA	X.37:g.76939763_76939767delTTTCT	ENSP00000362441:p.Lys329fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs	p.KK329fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1200_1204	-			329					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.986_990delAGAAA	CCDS14434.1																																																																																				0.341	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		23	38						23	38	---	---	---	---	-	76939762	TTTCT	-	76939758	7	5	356	1	0	1	0	1	0	0	0	0	1208	1490	52	0	6596	0	ATRX	23	76939758	Frame_Shift_Del	DEL	TTTCT	TCGA-P5-A5EW-01A-11D-A27K-08	2648297	76939758	78330802	28	33673											
LONRF3	79836	broad.mit.edu	37	chrX	118123490	118123490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaccacatgaaagaCcaggaagaagaggaggagaa	13	8	0	5			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:118123490C>A	ENST00000371628.3	+	4	1210	c.1179C>A	c.(1177-1179)gaC>gaA	p.D393E	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.D352E|LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	393							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ACATGAAAGACCAGGAAGAAG	0.507																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1054-1056)gaC>gaA		LON peptidase N-terminal domain and ring finger 3							95	71	79					X																	118123490		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118123490C>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1179C>A	X.37:g.118123490C>A	ENSP00000360690:p.Asp393Glu					LONRF3_ENST00000304778.7_Missense_Mutation_p.D352E|LONRF3_ENST00000371628.3_Missense_Mutation_p.D393E|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E	p.D352E			Q496Y0	LONF3_HUMAN			3	1219	+			393					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1056C>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.065|7.065	0.567249|0.567249	0.13560|0.13560	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;D|.	0.83591|.	-1.33;-1.33;-1.05;-1.74|.	4.04|4.04	-1.85|-1.85	0.07784|0.07784	.|.	2.427600|.	0.01257|.	N|.	0.009041|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.002;0.003;0.001|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.07030|.	T|.	0.85|.	0.0|0.0	0.5429|0.5429	0.00648|0.00648	0.1784:0.2858:0.174:0.3618|0.1784:0.2858:0.174:0.3618	.|.	137;352;393|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	E|T	352;352;393;137|159	ENSP00000360691:D352E;ENSP00000307732:D352E;ENSP00000360690:D393E;ENSP00000408894:D137E|.	ENSP00000307732:D352E|.	D|P	+|+	3|1	2|0	LONRF3|LONRF3	118007518|118007518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-0.415000|-0.415000	0.07106|0.07106	-0.309000|-0.309000	0.08779|0.08779	0.513000|0.513000	0.50165|0.50165	GAC|CCA		0.507	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		4	51	1	0	0.150653	1	0.150653	4	51					A	118123490	C	A	118123490	3	1	356	1	0	0	0	0	1	0	0	0	8896	506	18	4	1193	4	LONRF3	23	118123490	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	41183732	118123490	37147070	29	33674											
MAGEA6	4105	broad.mit.edu	37	chrX	151870011	151870011	+	Frame_Shift_Del	DEL	G	G	-													gttagaggtgtttgaggggaGggaagacagtatcttcgggg							TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:151870011delG	ENST00000329342.5	+	3	926	c.701delG	c.(700-702)aggfs	p.R234fs		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	234	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)					TTTGAGGGGAGGGAAGACAGT	0.532																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(700-702)agfs		melanoma antigen family A, 6							163	157	159					X																	151870011		2202	4300	6502	SO:0001589	frameshift_variant	4105						protein binding	g.chrX:151870011delG		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.701delG	X.37:g.151870011delG	ENSP00000329199:p.Arg234fs						p.R234fs	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	926	+	Acute lymphoblastic leukemia(192;6.56e-05)		234			MAGE.		A8IF93|Q6NW44	Frame_Shift_Del	DEL	ENST00000329342.5	37	c.701delG	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		144	218						144	218	---	---	---	---	-	151870011	G	-	151870011	7	5	356	1	0	1	0	1	0	0	0	0	9170	1000	35	0	703	0	MAGEA6	23	151870011	Frame_Shift_Del	DEL	G	TCGA-P5-A5EW-01A-11D-A27K-08	33746521	151870011	3400549	30	33675											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G													ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg							TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	69						9	69	---	---	---	---	G	112524445	-	G	112524444	7	5	357	1	0	1	1	0	0	0	0	0	8020	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		112524444	136726177	1	33676											
ZC3H6	376940	broad.mit.edu	37	chr2	113089666	113089666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagggatcacggttcatcAtccacatcagagctagcaac	8	13	4	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:113089666A>G	ENST00000409871.1	+	12	3572	c.3171A>G	c.(3169-3171)tcA>tcG	p.S1057S	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1057							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACGGTTCATCATCCACATCAG	0.443																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(3169-3171)tcA>tcG		zinc finger CCCH-type containing 6							65	58	60					2																	113089666		1903	4127	6030	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113089666A>G	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.3171A>G	2.37:g.113089666A>G						ZC3H6_ENST00000343936.4_Silent_p.S1057S	p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3572	+			1057					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.3171A>G	CCDS46393.1																																																																																				0.443	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		16	23	0	0	0	1	0	16	23					G	113089666	A	G	113089666	2	3	357	1	0	0	0	0	0	0	0	1	17568	204	8	3		3	ZC3H6	2	113089666	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08		113089666	130109707	2	33677											
TTN	7273	broad.mit.edu	37	chr2	179410161	179410161	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagcttcgctgggctcActgttaccagctgcattcac	10	12	2	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:179410161A>G	ENST00000591111.1	-	294	90977	c.90753T>C	c.(90751-90753)agT>agC	p.S30251S	TTN_ENST00000342992.6_Silent_p.S29324S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S23019S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.S31892S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30251	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)			CGCTGGGCTCACTGTTACCAG	0.468																																						ENST00000589042.1																			0				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						c.(95674-95676)agT>agC		titin							143	145	144					2																	179410161		2014	4177	6191	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410161A>G	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.90753T>C	2.37:g.179410161A>G						TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.S30251S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.S29324S|TTN_ENST00000342175.6_Silent_p.S23019S|TTN-AS1_ENST00000586707.1_RNA	p.S31892S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		344	95900	-			30251			Ig-like 141.		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	ENST00000591111.1	37	c.95676T>C																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	90	0	0	0	1	0	50	90					G	179410161	A	G	179410161	2	3	357	1	0	0	0	0	0	0	0	1	16732	156	6	3		3	TTN	2	179410161	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	66320495	179410161	63789212	3	33678											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	48	0	0	0	1	0	15	48					T	209113112	C	T	209113112	3	4	357	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08	29702951	209113112	34086261	4	33679											
CLDN11	5010	broad.mit.edu	37	chr3	170141061	170141061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggatgggccaggagcccGgtgtggctaagtacaggcgg	18	10	0	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:170141061G>A	ENST00000064724.3	+	2	539	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	113					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|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)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCAGGAGCCCGGTGTGGCTAA	0.602																																						ENST00000064724.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12						c.(337-339)Ggt>Agt		claudin 11							86	82	84					3																	170141061		2203	4300	6503	SO:0001583	missense	5010				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:170141061G>A	AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"Claudins"	8514	protein-coding gene	gene with protein product		601326	"oligodendrocyte transmembrane protein"	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.337G>A	3.37:g.170141061G>A	ENSP00000064724:p.Gly113Ser					CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S	p.G113S	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	539	+	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		113					B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	c.337G>A	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871874	0.51695	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.88201	-2.35;-2.35;-2.35	5.81	5.81	0.92471	.	0.105804	0.64402	D	0.000004	D	0.85932	0.5812	N	0.05414	-0.055	0.45161	D	0.998174	D;B	0.67145	0.996;0.155	P;B	0.57679	0.825;0.041	T	0.82723	-0.0316	10	0.11794	T	0.64	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	113;113	B4DFI2;O75508	.;CLD11_HUMAN	S	113	ENSP00000064724:G113S;ENSP00000417434:G113S;ENSP00000410185:G113S	ENSP00000064724:G113S	G	+	1	0	CLDN11	171623755	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	3.384000	0.52478	2.752000	0.94435	0.557000	0.71058	GGT		0.602	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		52	106	0	0	0	1	0	52	106					A	170141061	G	A	170141061	3	1	357	1	0	0	0	0	1	0	0	0	3473	1116	39	1	343	1	CLDN11	3	170141061	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		170141061	27881369	5	33680											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-													tcgagtccctcaagtccttcCagcagcagcagcagcagcag					rs71180116|rs374076986	byFrequency	TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:3076604_3076609delCAGCAG	ENST00000355072.5	+	1	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704														1892	0.377796	0.0741	0.3343	5008	,	,		6929	0.7421		0.327	False		,,,				2504	0.4959					ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(52-57)del		huntingtin				33,28,149		16,0,1,14,0,74						2.6	1		dbSNP_119	4	239,82,669		114,3,8,38,3,329	no	codingComplex	HTT	NM_002111.6		130,3,9,52,3,403	A1A1,A1A2,A1R,A2A2,A2R,RR		32.4242,29.0476,31.8333				272,110,818				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3076604_3076609delCAGCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_57delCAGCAG	4.37:g.3076610_3076615delCAGCAG	ENSP00000347184:p.Gln36_Gln37del						p.QQ36del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	1	197_202	+		all_epithelial(65;0.18)	36			Poly-Gln.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.52_57delCAGCAG	CCDS43206.1																																																																																				0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	3						3	3	---	---	---	---	-	3076609	CAGCAG	-	3076604	7	5	357	1	0	1	0	1	0	0	0	0	7457	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAGCAG	TCGA-P5-A5EX-01A-12D-A289-08		3076604	188077672	6	33681											
BOD1L	259282	broad.mit.edu	37	chr4	13603085	13603085	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttatagcaaagccttcGctgctatcttctgaacctgt	7	11	2	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:13603085G>A	ENST00000040738.5	-	10	5574	c.5439C>T	c.(5437-5439)agC>agT	p.S1813S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1813						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAAAGCCTTCGCTGCTATCTT	0.488																																						ENST00000040738.5																			0											c.(5437-5439)agC>agT		biorientation of chromosomes in cell division 1-like 1							139	147	144					4																	13603085		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603085G>A	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.5439C>T	4.37:g.13603085G>A							p.S1813S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5574	-			1813					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5439C>T	CCDS3411.2																																																																																				0.488	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		23	174	0	0	0	1	0	23	174					A	13603085	G	A	13603085	2	1	357	1	0	0	0	0	0	0	0	1	1483	1078	38	1		1	BOD1L	4	13603085	Silent	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	10526481	13603085	177551191	7	33682											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	9	20	2	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				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)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				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						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44	56	52					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	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.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			9	119	0	0	0	1	0	9	119					C	7229901	G	C	7229901	2	2	357	1	0	0	0	0	0	0	0	1	13679	1074	38	4		4	RREB1	6	7229901	Silent	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		7229901	163885166	8	33683											
NMBR	4829	broad.mit.edu	37	chr6	142397180	142397180	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttagccaggcgtttccgtgTttccatctgcaaatataaga	8	9	1	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:142397180T>A	ENST00000258042.1	-	3	918	c.778A>T	c.(778-780)Aca>Tca	p.T260S	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	260					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTTTCCGTGTTTCCATCTGC	0.388																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(778-780)Aca>Tca		neuromedin B receptor							57	50	52					6																	142397180		2203	4298	6501	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397180T>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.778A>T	6.37:g.142397180T>A	ENSP00000258042:p.Thr260Ser						p.T260S	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	918	-	Breast(32;0.155)		260					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.778A>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	T	5.675	0.309067	0.10733	.	.	ENSG00000135577	ENST00000258042	T	0.70516	-0.49	5.3	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.088129	0.85682	N	0.000000	T	0.20455	0.0492	N	0.01679	-0.765	0.49687	D	0.999814	B	0.20052	0.041	B	0.31101	0.124	T	0.31138	-0.9954	10	0.02654	T	1	-9.4469	11.7695	0.51949	0.132:0.0:0.0:0.868	.	260	P28336	NMBR_HUMAN	S	260	ENSP00000258042:T260S	ENSP00000258042:T260S	T	-	1	0	NMBR	142438873	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.094000	0.50227	0.929000	0.37192	-0.336000	0.08194	ACA		0.388	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			25	51	0	0	0	1	0	25	51					A	142397180	T	A	142397180	3	1	357	1	0	0	0	0	1	0	0	0	10487	1725	60	5	398	5	NMBR	6	142397180	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	135167279	142397180	28717887	9	33684											
WIPI2	26100	broad.mit.edu	37	chr7	5256804	5256804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggagaggtgcaggtcttcGataccattaatttggtgaga	13	6	1	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:5256804G>A	ENST00000288828.4	+	6	794	c.562G>A	c.(562-564)Gat>Aat	p.D188N	WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N|WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N|WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	188					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGGTCTTCGATACCATTAA	0.527																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(562-564)Gat>Aat		WD repeat domain, phosphoinositide interacting 2							171	135	147					7																	5256804		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5256804G>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"WD repeat domain containing"	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.562G>A	7.37:g.5256804G>A	ENSP00000288828:p.Asp188Asn					WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N|WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N|WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N	p.D188N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	6	794	+		Ovarian(82;0.0175)	188					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.562G>A	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128242	0.94473	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.73363	0.09;0.09;0.09;0.09;-0.74	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045241	0.85682	D	0.000000	D	0.87513	0.6196	M	0.82132	2.575	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.917;1.0;0.999;0.999;0.998	D;P;D;D;D;P	0.97110	1.0;0.565;1.0;0.923;0.923;0.84	D	0.86656	0.1901	10	0.46703	T	0.11	-38.1141	20.0114	0.97452	0.0:0.0:1.0:0.0	.	182;129;170;170;188;188	E7EVF6;Q9Y4P8-3;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;.;WIPI2_HUMAN	N	188;170;188;170;129;182	ENSP00000288828:D188N;ENSP00000384945:D170N;ENSP00000385297:D188N;ENSP00000371821:D170N;ENSP00000429654:D129N	ENSP00000288828:D188N	D	+	1	0	WIPI2	5223330	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.476000	0.97823	2.724000	0.93272	0.555000	0.69702	GAT		0.527	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		17	34	0	0	0	1	0	17	34					A	5256804	G	A	5256804	3	1	357	1	0	0	0	0	1	0	0	0	17368	1058	37	1	618	1	WIPI2	7	5256804	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		5256804	153881859	10	33685											
C7orf44	55744	broad.mit.edu	37	chr7	43687182	43687182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggcatagaacacacCgtggaaaaggatccttgctc	10	14	0	1	rs371645573		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:43687182C>T	ENST00000395879.1	-	2	1748	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	COA1_ENST00000395880.3_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	23					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)		p.G23S(1)									TAGAACACACCGTGGAAAAGG	0.493																																						ENST00000395879.1																			1	Substitution - Missense(1)	p.G23S(1)	prostate(1)								c.(67-69)Ggt>Agt		cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)							73	76	75					7																	43687182		2203	4300	6503	SO:0001583	missense	55744							g.chr7:43687182C>T	AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"Mitochondrial respiratory chain complex assembly factors"	21868	protein-coding gene	gene with protein product		614769	"chromosome 7 open reading frame 44"	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.67G>A	7.37:g.43687182C>T	ENSP00000379218:p.Gly23Ser					COA1_ENST00000223336.6_Missense_Mutation_p.G23S|COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000395880.3_Missense_Mutation_p.G23S	p.G23S							2	1748	-								A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	37	c.67G>A	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560970	0.03939	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336;ENST00000415798;ENST00000431651	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.87	-6.87	0.01671	.	1.318910	0.04939	N	0.458307	T	0.13286	0.0322	N	0.04959	-0.14	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.28586	-1.0039	10	0.18276	T	0.48	-11.6053	11.481	0.50326	0.0957:0.5761:0.0:0.3281	.	23	Q9GZY4	CG044_HUMAN	S	23	ENSP00000379218:G23S;ENSP00000312100:G23S;ENSP00000379219:G23S;ENSP00000223336:G23S;ENSP00000405582:G23S;ENSP00000417046:G23S	ENSP00000223336:G23S	G	-	1	0	C7orf44	43653707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-2.495000	0.00514	-3.352000	0.00042	GGT		0.493	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224		32	62	0	0	0	1	0	32	62					T	43687182	C	T	43687182	3	4	357	1	0	0	0	0	1	0	0	0	2394	652	23	1	389	1	C7orf44	7	43687182	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08	38430378	43687182	115451481	11	33686											
CROT	54677	broad.mit.edu	37	chr7	87005181	87005181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgatccagagaactTggctttgttagaaaaaattc	9	6	1	3			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:87005181T>C	ENST00000331536.3	+	9	973	c.788T>C	c.(787-789)tTg>tCg	p.L263S	CROT_ENST00000442291.1_Missense_Mutation_p.L263S|CROT_ENST00000419147.2_Missense_Mutation_p.L291S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	263					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGAGAACTTGGCTTTGTTA	0.368																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(787-789)tTg>tCg		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						84	83	83					7																	87005181		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87005181T>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.788T>C	7.37:g.87005181T>C	ENSP00000331981:p.Leu263Ser					CROT_ENST00000419147.2_Missense_Mutation_p.L291S|CROT_ENST00000442291.1_Missense_Mutation_p.L263S	p.L263S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			9	973	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		263					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.788T>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	0.344	-0.948888	0.02304	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88509	-2.39;-2.39;-2.39	5.48	5.48	0.80851	.	0.469748	0.23303	N	0.049644	D	0.82829	0.5122	L	0.46157	1.445	0.28044	N	0.933617	B;B	0.31290	0.097;0.318	B;B	0.24006	0.05;0.034	T	0.74503	-0.3644	10	0.27785	T	0.31	-6.4414	10.2563	0.43399	0.0:0.0742:0.0:0.9258	.	291;263	E7EQF2;Q9UKG9	.;OCTC_HUMAN	S	291;263;263	ENSP00000413575:L291S;ENSP00000331981:L263S;ENSP00000411983:L263S	ENSP00000331981:L263S	L	+	2	0	CROT	86843117	0.998000	0.40836	0.912000	0.35992	0.050000	0.14768	3.054000	0.49908	2.197000	0.70478	0.533000	0.62120	TTG		0.368	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		11	39	0	0	0	1	0	11	39					C	87005181	T	C	87005181	3	2	357	1	0	0	0	0	1	0	0	0	3894	1821	63	3	902	3	CROT	7	87005181	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	43317999	87005181	72133482	12	33687											
FOXP2	93986	broad.mit.edu	37	chr7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaaaccatctcccaaAcctgtaagtgcatattgctt	6	13	1	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:114294061A>T	ENST00000393494.2	+	10	1542	c.1263A>T	c.(1261-1263)aaA>aaT	p.K421N	FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000393500.3_Missense_Mutation_p.K346N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|MIR3666_ENST00000607845.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	421					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1036-1038)aaA>aaT		forkhead box P2							164	151	156					7																	114294061		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114294061A>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1263A>T	7.37:g.114294061A>T	ENSP00000377132:p.Lys421Asn					FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393494.2_Missense_Mutation_p.K421N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N	p.K346N			O15409	FOXP2_HUMAN			16	1858	+			421					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1038A>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583102	0.65992	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.65732	-0.17;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.34521	1.04	0.80722	D	1	P;P;B;D;D;P;D	0.61697	0.948;0.948;0.237;0.969;0.99;0.948;0.969	P;P;B;P;P;P;P	0.53313	0.533;0.533;0.143;0.634;0.723;0.533;0.723	T	0.66563	-0.5892	10	0.54805	T	0.06	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	420;438;329;421;445;421;446	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	346;421;446;438;421;398;329;421;445;329	ENSP00000377137:K346N;ENSP00000377132:K421N;ENSP00000386200:K446N;ENSP00000385069:K438N;ENSP00000265436:K421N;ENSP00000377129:K329N;ENSP00000353367:K421N;ENSP00000375084:K445N;ENSP00000377130:K329N	ENSP00000265436:K421N	K	+	3	2	FOXP2	114081297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	AAA		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		29	73	0	0	0	1	0	29	73					T	114294061	A	T	114294061	3	4	357	1	0	0	0	0	1	0	0	0	6027	40	2	5	1431	5	FOXP2	7	114294061	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	27288880	114294061	44844602	13	33688											
KEL	3792	broad.mit.edu	37	chr7	142638440	142638440	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggggcccgtggactcGgaggtgtggagggctgtgag	22	7	0	2	rs565926203		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:142638440G>A	ENST00000355265.2	-	19	2572	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	700					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCGTGGACTCGGAGGTGTGGA	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17138	0.0		0.0	False		,,,				2504	0.0					ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(2098-2100)Cga>Tga		Kell blood group, metallo-endopeptidase							101	106	104					7																	142638440		2203	4300	6503	SO:0001587	stop_gained	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638440G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2098C>T	7.37:g.142638440G>A	ENSP00000347409:p.Arg700*						p.R700*	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			19	2572	-	Melanoma(164;0.059)		700					B2RBV4|Q96RS8|Q99885	Nonsense_Mutation	SNP	ENST00000355265.2	37	c.2098C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	40	7.946756	0.98577	.	.	ENSG00000197993	ENST00000355265	.	.	.	4.77	4.77	0.60923	.	0.000000	0.46442	D	0.000282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0291	13.1516	0.59492	0.0:0.0:1.0:0.0	.	.	.	.	X	700	.	ENSP00000347409:R700X	R	-	1	2	KEL	142348562	0.907000	0.30839	0.770000	0.31555	0.154000	0.21943	5.129000	0.64739	2.475000	0.83589	0.651000	0.88453	CGA		0.622	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		57	133	0	0	0	1	0	57	133					A	142638440	G	A	142638440	4	1	357	1	0	0	0	0	0	1	0	0	8142	1124	39	1	104	1	KEL	7	142638440	Nonsense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	28344379	142638440	16500223	14	33689											
KIAA1429	25962	broad.mit.edu	37	chr8	95541443	95541445	+	In_Frame_Del	DEL	TTG	TTG	-													tcatcttcttctccttcttcTtgttgttcctcttctacttc							TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr8:95541443_95541445delTTG	ENST00000297591.5	-	7	808_810	c.733_735delCAA	c.(733-735)caadel	p.Q245del	KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	245	Glu-rich.				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)			ctccttcttcttgttgttcctct	0.438																																						ENST00000297591.5																			0				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						c.(733-735)del		KIAA1429																																				SO:0001651	inframe_deletion	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95541443_95541445delTTG	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.733_735delCAA	8.37:g.95541446_95541448delTTG	ENSP00000297591:p.Gln245del					KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		7	808_810	-	Breast(36;3.29e-05)		245			Glu-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	In_Frame_Del	DEL	ENST00000297591.5	37	c.733_735delCAA	CCDS34923.1																																																																																				0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		10	28						10	28	---	---	---	---	-	95541445	TTG	-	95541443	7	5	357	1	0	1	0	1	0	0	0	0	8231	1606	56	0	4829	0	KIAA1429	8	95541443	In_Frame_Del	DEL	TTG	TCGA-P5-A5EX-01A-12D-A289-08		95541443	50822579	15	33690											
BARX1	56033	broad.mit.edu	37	chr9	96714489	96714489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctcgcccggcacctccGccggtttctctgcatccttg	11	17	1	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr9:96714489G>A	ENST00000253968.6	-	4	947	c.722C>T	c.(721-723)gCg>gTg	p.A241V	BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	241					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						CGGCACCTCCGCCGGTTTCTC	0.682																																						ENST00000253968.6																			0				endometrium(1)	1						c.(721-723)gCg>gTg		BARX homeobox 1							31	29	29					9																	96714489		2203	4300	6503	SO:0001583	missense	56033					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:96714489G>A		CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"Homeoboxes / ANTP class : NKL subclass"	955	protein-coding gene	gene with protein product		603260	"BarH-like homeobox 1"				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.722C>T	9.37:g.96714489G>A	ENSP00000253968:p.Ala241Val					BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	p.A241V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN			4	947	-			241					Q6P2R4|Q96GH8	Missense_Mutation	SNP	ENST00000253968.6	37	c.722C>T	CCDS35070.2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772949	0.31411	.	.	ENSG00000131668	ENST00000253968;ENST00000401724	D;D	0.96365	-3.05;-3.99	5.67	4.78	0.61160	.	0.450566	0.24027	N	0.042238	D	0.88020	0.6325	N	0.08118	0	0.32023	N	0.600566	P	0.39404	0.672	B	0.23018	0.043	D	0.88281	0.2936	10	0.31617	T	0.26	.	13.7572	0.62943	0.0735:0.0:0.9265:0.0	.	241	Q9HBU1	BARX1_HUMAN	V	241;87	ENSP00000253968:A241V;ENSP00000385613:A87V	ENSP00000253968:A241V	A	-	2	0	BARX1	95754310	0.013000	0.17824	0.936000	0.37596	0.053000	0.15095	0.892000	0.28322	1.409000	0.46915	0.561000	0.74099	GCG		0.682	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053164.4			15	28	0	0	0	1	0	15	28					A	96714489	G	A	96714489	3	1	357	1	0	0	0	0	1	0	0	0	1315	1087	38	1	46	1	BARX1	9	96714489	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		96714489	44498942	16	33691											
NUP98	4928	broad.mit.edu	37	chr11	3697451	3697451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgcgcagttcgtccaTggcatagtcctcaggcatgg	13	11	1	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:3697451T>C	ENST00000324932.7	-	33	5761	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1798					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCGTCCATGGCATAGTCC	0.582			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5341-5343)Atg>Gtg		nucleoporin 98kDa							90	85	87					11																	3697451		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697451T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5341A>G	11.37:g.3697451T>C	ENSP00000316032:p.Met1781Val					NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V	p.M1781V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5761	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1798					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5341A>G	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.23|10.23	1.292001|1.292001	0.23564|0.23564	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000355260	.|.	.|.	.|.	5.66|5.66	3.34|3.34	0.38264|0.38264	.|.	.|0.552996	.|0.15320	.|N	.|0.268582	T|T	0.30070|0.30070	0.0753|0.0753	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.002;0.002;0.002	.|B;B;B	.|0.08055	.|0.003;0.003;0.003	T|T	0.07233|0.07233	-1.0783|-1.0783	5|9	.|0.33940	.|T	.|0.23	-2.3861|-2.3861	3.5967|3.5967	0.08009|0.08009	0.6027:0.0:0.235:0.1623|0.6027:0.0:0.235:0.1623	.|.	.|1707;1781;1695	.|P52948-2;P52948-5;P52948-6	.|.;.;.	R|V	733|1781;1707	.|.	.|ENSP00000316032:M1781V	H|M	-|-	2|1	0|0	NUP98|NUP98	3654027|3654027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	2.376000|2.376000	0.44292|0.44292	0.422000|0.422000	0.26005|0.26005	-0.527000|-0.527000	0.04329|0.04329	CAT|ATG		0.582	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	124	0	0	0	1	0	11	124					C	3697451	T	C	3697451	3	2	357	1	0	0	0	0	1	0	0	0	10773	1464	51	3	65	3	NUP98	11	3697451	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08		3697451	131309065	17	33692											
TPH1	7166	broad.mit.edu	37	chr11	18050813	18050813	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgagatactctctgcaaGcatgggttgggtagagtttg	13	5	1	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:18050813G>C	ENST00000250018.2	-	5	1128	c.566C>G	c.(565-567)gCt>gGt	p.A189G	TPH1_ENST00000341556.2_Missense_Mutation_p.A189G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	189					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CTCTCTGCAAGCATGGGTTGG	0.403																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(565-567)gCt>gGt		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						238	245	243					11																	18050813		2200	4293	6493	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18050813G>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.566C>G	11.37:g.18050813G>C	ENSP00000250018:p.Ala189Gly					TPH1_ENST00000341556.2_Missense_Mutation_p.A189G	p.A189G	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			5	1128	-			189					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.566C>G	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472023	0.96274	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99822	-6.94;-6.94	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96472	0.9349	10	0.87932	D	0	-18.312	20.0942	0.97832	0.0:0.0:1.0:0.0	.	189	P17752	TPH1_HUMAN	G	189	ENSP00000250018:A189G;ENSP00000343550:A189G	ENSP00000250018:A189G	A	-	2	0	TPH1	18007389	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.765000	0.98953	2.756000	0.94617	0.650000	0.86243	GCT		0.403	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		5	325	0	0	0	1	0	5	325					C	18050813	G	C	18050813	3	2	357	1	0	0	0	0	1	0	0	0	16398	971	34	4	792	4	TPH1	11	18050813	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	14353362	18050813	116955703	18	33693											
TRIM48	79097	broad.mit.edu	37	chr11	55032585	55032585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacctcaaaactaacattcGattgaagaagatggcttccc	6	10	1	3	rs199871070	byFrequency	TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:55032585G>A	ENST00000417545.2	+	2	340	c.254G>A	c.(253-255)cGa>cAa	p.R85Q		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	69						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACTAACATTCGATTGAAGAAG	0.448																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(253-255)cGa>cAa		tripartite motif containing 48							171	159	163					11																	55032585		2188	4257	6445	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032585G>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.254G>A	11.37:g.55032585G>A	ENSP00000402414:p.Arg85Gln						p.R85Q	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	340	+			69					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.254G>A	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	2.285	-0.363863	0.05103	.	.	ENSG00000150244	ENST00000417545	D	0.84516	-1.86	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.68613	0.3020	N	0.17594	0.5	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.51442	-0.8705	9	0.28530	T	0.3	.	4.5706	0.12208	0.0:0.0:0.3693:0.6307	.	69	Q8IWZ4	TRI48_HUMAN	Q	85	ENSP00000402414:R85Q	ENSP00000402414:R85Q	R	+	2	0	TRIM48	54789161	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.129000	0.15830	-0.361000	0.08125	0.413000	0.27773	CGA		0.448	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			4	108	0	0	0	1	0	4	108					A	55032585	G	A	55032585	3	1	357	1	0	0	0	0	1	0	0	0	16520	1058	37	1	260	1	TRIM48	11	55032585	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	36981772	55032585	79973931	19	33694											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-													tccagccccatcacgtactcCttcttcttcagtcgattaag							TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		23	254						23	254	---	---	---	---	-	85375244	CTT	-	85375242	7	5	357	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-P5-A5EX-01A-12D-A289-08	30342657	85375242	49631274	20	33695											
FBXL3	26224	broad.mit.edu	37	chr13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caatgcgcaaatgttctaatCgaacatgtttttcagaagac	7	8	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(751-753)cGa>cAa		F-box and leucine-rich repeat protein 3							110	105	107					13																	77581815		2203	4300	6503	SO:0001583	missense	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581815C>T	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"F-boxes / Leucine-rich repeats"	13599	protein-coding gene	gene with protein product		605653	"F-box and leucine-rich repeat protein 3A"	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.752G>A	13.37:g.77581815C>T	ENSP00000347834:p.Arg251Gln					FBXL3_ENST00000477982.1_Intron	p.R251Q	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1076	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	251					B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	c.752G>A	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672518	0.47781	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.52526	0.66;0.67	6.06	6.06	0.98353	.	0.053607	0.64402	D	0.000001	T	0.28797	0.0714	N	0.14661	0.345	0.45607	D	0.998544	P	0.37158	0.585	B	0.21917	0.037	T	0.12915	-1.0529	10	0.13470	T	0.59	-8.7962	20.6208	0.99490	0.0:1.0:0.0:0.0	.	251	Q9UKT7	FBXL3_HUMAN	Q	251;203	ENSP00000347834:R251Q;ENSP00000412183:R203Q	ENSP00000347834:R251Q	R	-	2	0	FBXL3	76479816	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.745000	0.68672	2.882000	0.98803	0.655000	0.94253	CGA		0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			23	42	0	0	0	1	0	23	42					T	77581815	C	T	77581815	3	4	357	1	0	0	0	0	1	0	0	0	5720	884	31	1	538	1	FBXL3	13	77581815	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		77581815	37588063	21	33696											
AHNAK2	113146	broad.mit.edu	37	chr14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggtcaccctccagccGcacactgtccagcttggctc	10	17	1	0	rs373634735		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						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)			CCCTCCAGCCGCACACTGTCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5410-5412)Cgg>Tgg		AHNAK nucleoprotein 2		G	TRP/ARG	1,4013		0,1,2006	146	174	165		5410	-4.1	0	14		165	0,8296		0,0,4148	no	missense	AHNAK2	NM_138420.2	101	0,1,6154	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	1804/5796	105416378	1,12309	2007	4148	6155	SO:0001583	missense	113146					nucleus		g.chr14:105416378G>A	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.5410C>T	14.37:g.105416378G>A	ENSP00000353114:p.Arg1804Trp					AHNAK2_ENST00000557457.1_Intron	p.R1804W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5529	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1804					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5410C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097490	0.37048	2.49E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	D	0.54772	0.968	B	0.33042	0.157	T	0.50372	-0.8836	9	0.66056	D	0.02	.	6.3633	0.21441	0.0:0.0:0.544:0.456	.	1804	Q8IVF2	AHNK2_HUMAN	W	1804	ENSP00000353114:R1804W	ENSP00000353114:R1804W	R	-	1	2	AHNAK2	104487423	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.288000	0.09051	0.456000	0.33151	CGG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	356	0	0	0	1	0	6	356					A	105416378	G	A	105416378	3	1	357	1	0	0	0	0	1	0	0	0	415	1086	38	1	11981	1	AHNAK2	14	105416378	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		105416378	1933162	22	33697											
KIAA1024	23251	broad.mit.edu	37	chr15	79749239	79749239	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgaggagccatttgtggtCcagtcctgtgtccagaaaag	12	8	0	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:79749239C>T	ENST00000305428.3	+	2	825	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	250						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATTTGTGGTCCAGTCCTGTG	0.473																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(748-750)gtC>gtT		KIAA1024							70	74	73					15																	79749239		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749239C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.750C>T	15.37:g.79749239C>T							p.V250V	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	825	+			250					A7MD43	Silent	SNP	ENST00000305428.3	37	c.750C>T	CCDS32306.1																																																																																				0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		27	76	0	0	0	1	0	27	76					T	79749239	C	T	79749239	2	4	357	1	0	0	0	0	0	0	0	1	8205	842	30	2		2	KIAA1024	15	79749239	Silent	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		79749239	22782153	23	33698											
MPRIP	23164	broad.mit.edu	37	chr17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C													acaggacttcaccaatgaagINScccccccagctcctctccca							TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:17046885_17046886insC	ENST00000341712.4	+	9	1051_1052	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000395811.5_Frame_Shift_Ins_p.A351fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1051-1053)cccfs		myosin phosphatase Rho interacting protein																																				SO:0001589	frameshift_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17046885_17046886insC	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1058dupC	17.37:g.17046892_17046892dupC	ENSP00000342379:p.Ala351fs					MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.P351fs|MPRIP_ENST00000341712.4_Frame_Shift_Ins_p.P351fs|MPRIP_ENST00000444976.1_Intron	p.P351fs	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			9	1140_1141	+			351			Interaction with F-actin (By similarity).		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Ins	INS	ENST00000341712.4	37	c.1051_1052insC	CCDS32578.1																																																																																				0.649	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		18	52						18	52	---	---	---	---	C	17046886	-	C	17046885	7	5	357	1	0	1	1	0	0	0	0	0	9743	971	34	0	1085	0	MPRIP	17	17046885	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		17046885	64148325	24	33699											
BZRAP1	9256	broad.mit.edu	37	chr17	56388978	56388978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtgacccggacaccgTtggatgtgccagcagcatcg	13	13	0	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:56388978T>C	ENST00000343736.4	-	18	3198	c.3035A>G	c.(3034-3036)aAc>aGc	p.N1012S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.N1012S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1012	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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)					CCGGACACCGTTGGATGTGCC	0.602																																						ENST00000355701.3																			0				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						c.(3034-3036)aAc>aGc		benzodiazapine receptor (peripheral) associated protein 1							84	73	77					17																	56388978		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56388978T>C	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.3035A>G	17.37:g.56388978T>C	ENSP00000345824:p.Asn1012Ser					BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1012S	p.N1012S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			18	3905	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1012			Fibronectin type-III 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3035A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850303	0.91277	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.46819	0.86;0.86;0.86	5.38	5.38	0.77491	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.72118	2.19	0.53688	D	0.999973	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.992	T	0.70171	-0.4945	10	0.56958	D	0.05	.	14.8662	0.70419	0.0:0.0:0.0:1.0	.	1012;952;1012	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1012;1012;952	ENSP00000347929:N1012S;ENSP00000345824:N1012S;ENSP00000268893:N952S	ENSP00000268893:N952S	N	-	2	0	BZRAP1	53743977	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.965000	0.87945	2.176000	0.68965	0.455000	0.32223	AAC		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		37	87	0	0	0	1	0	37	87					C	56388978	T	C	56388978	3	2	357	1	0	0	0	0	1	0	0	0	1577	1725	60	3	2594	3	BZRAP1	17	56388978	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39342093	56388978	24806232	25	33700											
ZNF24	7572	broad.mit.edu	37	chr18	32917323	32917323	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctccccagtatggattCtctgatgattaataagcccc	7	11	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr18:32917323C>A	ENST00000261332.6	-	4	1159	c.980G>T	c.(979-981)aGa>aTa	p.R327I	ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	327					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|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)|zinc ion binding (GO:0008270)	p.R327I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTATGGATTCTCTGATGATT	0.413																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			1	Substitution - Missense(1)	p.R327I(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(979-981)aGa>aTa		zinc finger protein 24							109	110	110					18																	32917323		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917323C>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.980G>T	18.37:g.32917323C>A	ENSP00000261332:p.Arg327Ile					ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I	p.R327I	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	1159	-			327					O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.980G>T	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532919	0.64972	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.24908	1.83;1.83	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000010	T	0.47395	0.1443	M	0.72479	2.2	0.58432	D	0.999997	D	0.76494	0.999	D	0.68353	0.957	T	0.45804	-0.9236	10	0.87932	D	0	.	11.7701	0.51953	0.0:0.823:0.177:0.0	.	327	P17028	ZNF24_HUMAN	I	327	ENSP00000261332:R327I;ENSP00000382015:R327I	ENSP00000261332:R327I	R	-	2	0	ZNF24	31171321	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.184000	0.50926	2.679000	0.91253	0.655000	0.94253	AGA		0.413	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		4	50	1	0	0.184627	1	0.188641	4	50					A	32917323	C	A	32917323	3	1	357	1	0	0	0	0	1	0	0	0	17789	913	32	4	130	4	ZNF24	18	32917323	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		32917323	45159925	26	33701											
PRX	57716	broad.mit.edu	37	chr19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgagacctcagcacccGcctcgcctggcttgccacgt	9	19	1	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:40901791G>A	ENST00000324001.7	-	7	2738	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	823					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A823V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587																																						ENST00000324001.7																			1	Substitution - Missense(1)	p.A823V(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2467-2469)gCg>gTg		periaxin							92	82	85					19																	40901791		2202	4300	6502	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901791G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2468C>T	19.37:g.40901791G>A	ENSP00000326018:p.Ala823Val					PRX_ENST00000291825.7_3'UTR	p.A823V	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2738	-			823					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2468C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303864	0.10678	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01192	5.2	5.15	1.49	0.22878	.	0.297914	0.24107	N	0.041497	T	0.00784	0.0026	N	0.17082	0.46	0.09310	N	0.999999	B	0.23316	0.083	B	0.23018	0.043	T	0.49969	-0.8882	10	0.20519	T	0.43	-13.0857	5.0452	0.14480	0.2711:0.1659:0.5629:0.0	.	823	Q9BXM0	PRAX_HUMAN	V	823	ENSP00000326018:A823V	ENSP00000326018:A823V	A	-	2	0	PRX	45593631	0.061000	0.20836	0.784000	0.31847	0.310000	0.27922	0.457000	0.21875	1.165000	0.42670	0.655000	0.94253	GCG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	79	0	0	0	1	0	9	79					A	40901791	G	A	40901791	3	1	357	1	0	0	0	0	1	0	0	0	12642	1087	38	1	1921	1	PRX	19	40901791	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		40901791	18227192	27	33702											
MYBPC2	4606	broad.mit.edu	37	chr19	50965235	50965235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgacacctctcatagaccGcgtggtcgtggctgggtact	12	13	1	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:50965235G>T	ENST00000357701.5	+	26	3221	c.3170G>T	c.(3169-3171)cGc>cTc	p.R1057L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1057	Ig-like C2-type 7.				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)		CTCATAGACCGCGTGGTCGTG	0.592											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357701.5																			0				breast(1)	1						c.(3169-3171)cGc>cTc		myosin binding protein C, fast type							47	48	47					19																	50965235		2033	4173	6206	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50965235G>T		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.3170G>T	19.37:g.50965235G>T	ENSP00000350332:p.Arg1057Leu		OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973		p.R1057L	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	26	3221	+		all_neural(266;0.057)	1057			Ig-like C2-type 7.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.3170G>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	30	5.055413	0.93793	.	.	ENSG00000086967	ENST00000357701	T	0.63913	-0.07	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.33572	U	0.004775	T	0.67040	0.2851	L	0.31207	0.915	0.47862	D	0.999534	D	0.76494	0.999	D	0.80764	0.994	T	0.60296	-0.7291	10	0.11794	T	0.64	.	17.0118	0.86408	0.0:0.0:1.0:0.0	.	1057	Q14324	MYPC2_HUMAN	L	1057	ENSP00000350332:R1057L	ENSP00000350332:R1057L	R	+	2	0	MYBPC2	55657047	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	8.989000	0.93506	2.382000	0.81193	0.550000	0.68814	CGC		0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		2	0	1	0	1	1	1	2	0					T	50965235	G	T	50965235	3	4	357	1	0	0	0	0	1	0	0	0	10012	1087	38	4	3272	4	MYBPC2	19	50965235	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	10063444	50965235	8163748	28	33703											
ZNF551	90233	broad.mit.edu	37	chr19	58197953	58197953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagaaaactcacctcAgtgagattaagatgtgtgtc	8	11	2	3	rs201814536		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:58197953A>G	ENST00000282296.5	+	3	495	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	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)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(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;0.0257)		AACTCACCTCAGTGAGATTAA	0.478																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(310-312)Agt>Ggt		zinc finger protein 551							124	120	122					19																	58197953		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58197953A>G	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.310A>G	19.37:g.58197953A>G	ENSP00000282296:p.Ser104Gly					ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000599221.1_Intron	p.S104G	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	495	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	104					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.310A>G	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	A	7.916	0.737574	0.15574	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	-1.66	0.08265	.	.	.	.	.	T	0.15478	0.0373	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20338	-1.0278	8	0.27082	T	0.32	.	2.3828	0.04358	0.4261:0.1576:0.0:0.4163	.	104	Q7Z340	ZN551_HUMAN	G	104;88	.	ENSP00000282296:S88G	S	+	1	0	ZNF551	62889765	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.726000	0.04936	-0.579000	0.05952	-0.531000	0.04308	AGT		0.478	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		59	51	0	0	0	1	0	59	51					G	58197953	A	G	58197953	3	3	357	1	0	0	0	0	1	0	0	0	17980	188	7	3	272	3	ZNF551	19	58197953	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	7232718	58197953	931030	29	33704											
C20orf117	140710	broad.mit.edu	37	chr20	35445831	35445831	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccaaagtcttcttatcGgccttccccagggagcgggt	11	13	2	0	rs373774469		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr20:35445831G>T	ENST00000357779.3	-	4	725	c.399C>A	c.(397-399)gcC>gcA	p.A133A	SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000279034.6_Silent_p.A133A|SOGA1_ENST00000237536.4_Silent_p.A371A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	133					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						TCTTCTTATCGGCCTTCCCCA	0.458																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1111-1113)gcC>gcA		suppressor of glucose, autophagy associated 1							38	38	38					20																	35445831		1818	4070	5888	SO:0001819	synonymous_variant	140710							g.chr20:35445831G>T	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.399C>A	20.37:g.35445831G>T						SOGA1_ENST00000357779.3_Silent_p.A133A|SOGA1_ENST00000279034.5_Silent_p.A133A	p.A371A	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			4	1454	-			133					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1113C>A																																																																																					0.458	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		7	4	1	0	0.000157383	1	0.000164378	7	4					T	35445831	G	T	35445831	2	4	357	1	0	0	0	0	0	0	0	1	2083	1103	39	4		4	C20orf117	20	35445831	Silent	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		35445831	27579689	30	33705											
MAGEB1	4112	broad.mit.edu	37	chrX	30269583	30269583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccagtgttagagccaggCgtcgcactactgccacgact	11	13	0	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:30269583C>T	ENST00000378981.3	+	4	1294	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527																																						ENST00000378981.3																			1	Substitution - Missense(1)	p.R325C(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(973-975)Cgt>Tgt		melanoma antigen family B, 1							89	78	82					X																	30269583		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269583C>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.973C>T	X.37:g.30269583C>T	ENSP00000368264:p.Arg325Cys					MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C	p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	1294	+			325					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.973C>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155363	0.21454	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01613	4.73;4.73;4.73	3.55	-1.44	0.08856	.	2.591500	0.02042	N	0.049376	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.47724	-0.9095	10	0.54805	T	0.06	.	5.491	0.16777	0.0:0.3987:0.2058:0.3955	.	325	P43366	MAGB1_HUMAN	C	325	ENSP00000368264:R325C;ENSP00000380683:R325C;ENSP00000380681:R325C	ENSP00000368264:R325C	R	+	1	0	MAGEB1	30179504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.869000	0.01643	-0.535000	0.06307	-0.322000	0.08575	CGT		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		41	89	0	0	0	1	0	41	89					T	30269583	C	T	30269583	3	4	357	1	0	0	0	0	1	0	0	0	9172	768	27	1	975	1	MAGEB1	23	30269583	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		30269583	125000977	31	33706											
KIF4A	24137	broad.mit.edu	37	chrX	69615591	69615591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccatctgaatgacctccTtgaagatagaaagatcctgg	9	10	1	6			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:69615591T>G	ENST00000374403.3	+	21	2385	c.2303T>G	c.(2302-2304)cTt>cGt	p.L768R	RNY4P23_ENST00000364507.1_RNA|KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	768	Interaction with PRC1.				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)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGACCTCCTTGAAGATAGA	0.438																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2302-2304)cTt>cGt		kinesin family member 4A							73	65	68					X																	69615591		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69615591T>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2303T>G	X.37:g.69615591T>G	ENSP00000363524:p.Leu768Arg					KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			21	2385	+			768			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2303T>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.251002	0.80135	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70986	-0.53;-0.5	5.3	5.3	0.74995	.	0.115243	0.39341	N	0.001393	T	0.79930	0.4531	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81728	-0.0800	10	0.72032	D	0.01	.	13.4384	0.61096	0.0:0.0:0.0:1.0	.	768	O95239	KIF4A_HUMAN	R	768;768;70	ENSP00000363509:L768R;ENSP00000363524:L768R	ENSP00000363509:L768R	L	+	2	0	KIF4A	69532316	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.174000	0.77620	1.968000	0.57251	0.478000	0.44815	CTT		0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		41	55	0	0	0	1	0	41	55					G	69615591	T	G	69615591	3	3	357	1	0	0	0	0	1	0	0	0	8303	1609	56	5	2381	5	KIF4A	23	69615591	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39346008	69615591	85654969	32	33707											
BRWD3	254065	broad.mit.edu	37	chrX	79942476	79942476	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaggattacactttaaAgactgtcttctgcctcggca	8	11	3	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:79942476A>G	ENST00000373275.4	-	35	4107	c.3891T>C	c.(3889-3891)tcT>tcC	p.S1297S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1297					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						TACACTTTAAAGACTGTCTTC	0.383																																						ENST00000373275.4																			0				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						c.(3889-3891)tcT>tcC		bromodomain and WD repeat domain containing 3							129	112	118					X																	79942476		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79942476A>G		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.3891T>C	X.37:g.79942476A>G						BRWD3_ENST00000473691.1_5'UTR	p.S1297S	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			35	4107	-			1297					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3891T>C	CCDS14447.1																																																																																				0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	38	0	0	0	1	0	12	38					G	79942476	A	G	79942476	2	3	357	1	0	0	0	0	0	0	0	1	1526	59	3	3		3	BRWD3	23	79942476	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	10326885	79942476	75328084	33	33708											
ODZ1	10178	broad.mit.edu	37	chrX	123519691	123519691	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtataagactctgcgccctGtccccagatgcagggtctgt	11	12	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:123519691G>C	ENST00000371130.3	-	28	5954	c.5891C>G	c.(5890-5892)aCa>aGa	p.T1964R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.T1971R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1964					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)										TCTGCGCCCTGTCCCCAGATG	0.483																																						ENST00000422452.2																			0											c.(5911-5913)aCa>aGa		teneurin transmembrane protein 1							175	146	156					X																	123519691		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123519691G>C	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.5891C>G	X.37:g.123519691G>C	ENSP00000360171:p.Thr1964Arg					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.T1964R	p.T1971R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					29	5975	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5912C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171469	0.78452	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86164	-2.08;-2.05	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.941;0.958	D	0.91610	0.5302	10	0.49607	T	0.09	.	18.8683	0.92301	0.0:0.0:1.0:0.0	.	1970;1971;1964	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1964;1971	ENSP00000360171:T1964R;ENSP00000403954:T1971R	ENSP00000360171:T1964R	T	-	2	0	ODZ1	123347372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.403000	0.81681	0.594000	0.82650	ACA		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		62	115	0	0	0	1	0	62	115					C	123519691	G	C	123519691	3	2	357	1	0	0	0	0	1	0	0	0	10834	1377	48	4	2302	4	ODZ1	23	123519691	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	43577215	123519691	31750869	34	33709											
OR2T35	403244	broad.mit.edu	37	chr1	248801912	248801912	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaggatgtgcgtgtaggaCacagagatgacagatagagg	17	4	0	4	rs1770044	byFrequency	TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542																																						ENST00000317450.3																			1	Substitution - coding silent(1)	p.V216V(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(646-648)gtG>gtC		olfactory receptor, family 2, subfamily T, member 35							132	107	115					1																	248801912		2057	4250	6307	SO:0001819	synonymous_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801912C>G	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.648G>C	1.37:g.248801912C>G							p.V216V	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	647	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	216					Q6IEY7	Silent	SNP	ENST00000317450.3	37	c.648G>C	CCDS31123.1																																																																																				0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	33	0	0	0	1	0	3	33					G	248801912	C	G	248801912	2	3	358	1	0	0	0	0	0	0	0	1	11026	465	17	4		4	OR2T35	1	248801912	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		248801912	448709	1	33710											
BRAF	673	broad.mit.edu	37	chr7	140477790	140477791	+	Splice_Site	INS	-	-	CTGAGTACT													agtaattcacacaagctcacINSctgagtactcctacttcatt							TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr7:140477790_140477791insCTGAGTACT	ENST00000288602.6	-	12	1577_1578		c.e12+1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase						activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CACAAGCTCACCTGAGTACTCC	0.386		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.e12+1		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001630	splice_region_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140477790_140477791insCTGAGTACT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1517+1->AGTACTCAG	7.37:g.140477791_140477799dupCTGAGTACT								NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			12	1577_1578	-	Melanoma(164;0.00956)							A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	INS	ENST00000288602.6	37		CCDS5863.1																																																																																				0.386	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Intron	10	44						10	44	---	---	---	---	CTGAGTACT	140477791	-	CTGAGTACT	140477790	8	5	358	1	0	1	1	0	0	0	1	0	1496	521	18	0	810	0	BRAF	7	140477790	Splice_Site	INS	-	TCGA-P5-A5EY-01A-11D-A27K-08		140477790	18660873	2	33711											
MYH6	4624	broad.mit.edu	37	chr14	23851755	23851755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaacttggacaggttgGtgttggcttgctcctcctgt	14	9	0	0			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr14:23851755G>A	ENST00000356287.3	-	37	5707	c.5678C>T	c.(5677-5679)aCc>aTc	p.T1893I	MYH6_ENST00000405093.3_Missense_Mutation_p.T1893I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1893					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)		GGACAGGTTGGTGTTGGCTTG	0.592																																						ENST00000405093.3																			0				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						c.(5677-5679)aCc>aTc		myosin, heavy chain 6, cardiac muscle, alpha							179	150	160					14																	23851755		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23851755G>A	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.5678C>T	14.37:g.23851755G>A	ENSP00000348634:p.Thr1893Ile					MYH6_ENST00000356287.3_Missense_Mutation_p.T1893I	p.T1893I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	38	5748	-	all_cancers(95;2.54e-05)		1893					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5678C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082368	0.36758	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.78003	-1.14;-1.14	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	T	0.64405	0.2595	N	0.25245	0.725	0.31605	N	0.652262	B	0.02656	0.0	B	0.10450	0.005	T	0.61879	-0.6972	9	0.25751	T	0.34	.	11.7363	0.51767	0.0894:0.0:0.9106:0.0	.	1893	P13533	MYH6_HUMAN	I	1893	ENSP00000386041:T1893I;ENSP00000348634:T1893I	ENSP00000348634:T1893I	T	-	2	0	MYH6	22921595	0.070000	0.21116	1.000000	0.80357	0.981000	0.71138	0.329000	0.19698	2.339000	0.79563	0.561000	0.74099	ACC		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			6	152	0	0	0	1	0	6	152					A	23851755	G	A	23851755	3	1	358	1	0	0	0	0	1	0	0	0	10038	1261	44	2	149	2	MYH6	14	23851755	Missense_Mutation	SNP	G	TCGA-P5-A5EY-01A-11D-A27K-08		23851755	83497785	3	33712											
SLC6A4	6532	broad.mit.edu	37	chr17	28548857	28548857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccattggatatttgcccGgactccactttgtcccctgg	8	14	0	0	rs145558656		TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr17:28548857G>A	ENST00000401766.2	-	2	632	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SLC6A4_ENST00000261707.3_Silent_p.S40S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	40					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATATTTGCCCGGACTCCACTT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17649	0.0		0.0	False		,,,				2504	0.001					ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(118-120)tcC>tcT		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	G		0,4406		0,0,2203	166	149	155		120	-11.7	0	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC6A4	NM_001045.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		40/631	28548857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548857G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.120C>T	17.37:g.28548857G>A						SLC6A4_ENST00000261707.3_Silent_p.S40S	p.S40S			P31645	SC6A4_HUMAN			2	632	-			40					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.120C>T	CCDS11256.1																																																																																				0.537	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		4	181	0	0	0	1	0	4	181					A	28548857	G	A	28548857	2	1	358	1	0	0	0	0	0	0	0	1	14686	1103	39	1		1	SLC6A4	17	28548857	Silent	SNP	G	TCGA-P5-A5EY-01A-11D-A27K-08		28548857	52646353	4	33713											
IRF3	3661	broad.mit.edu	37	chr19	50163010	50163010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggctgttggaaatgtgCaggtccacagtattctccag	14	8	1	0			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:50163010C>T	ENST00000597198.1	-	8	1560	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	IRF3_ENST00000601291.1_Missense_Mutation_p.A399T|IRF3_ENST00000377135.4_Silent_p.L266L|IRF3_ENST00000599144.1_Silent_p.L247L|IRF3_ENST00000600022.1_Silent_p.L120L|IRF3_ENST00000596822.1_Missense_Mutation_p.A82T|IRF3_ENST00000600911.1_Missense_Mutation_p.A355T|IRF3_ENST00000377139.3_Silent_p.L393L|IRF3_ENST00000309877.7_Silent_p.L393L|IRF3_ENST00000599223.1_Silent_p.L266L|IRF3_ENST00000593922.1_Silent_p.L247L|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000598808.1_Silent_p.L247L|IRF3_ENST00000596765.1_Silent_p.L120L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	393					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|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 type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGAAATGTGCAGGTCCACAG	0.617																																						ENST00000600911.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(1063-1065)Gca>Aca		interferon regulatory factor 3							160	145	150					19																	50163010		2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50163010C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1179G>A	19.37:g.50163010C>T						IRF3_ENST00000597198.1_Silent_p.L393L|IRF3_ENST00000309877.7_Silent_p.L393L|IRF3_ENST00000599223.1_Silent_p.L266L|IRF3_ENST00000598808.1_Silent_p.L247L|IRF3_ENST00000593922.1_Silent_p.L247L|IRF3_ENST00000596822.1_Missense_Mutation_p.A82T|IRF3_ENST00000377135.4_Silent_p.L266L|IRF3_ENST00000377139.3_Silent_p.L393L|IRF3_ENST00000600022.1_Silent_p.L120L|IRF3_ENST00000599144.1_Silent_p.L247L|IRF3_ENST00000601291.1_Missense_Mutation_p.A399T|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596765.1_Silent_p.L120L	p.A355T			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1455	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	115			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.1063G>A	CCDS12775.1																																																																																				0.617	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		4	143	0	0	0	1	0	4	143					T	50163010	C	T	50163010	2	4	358	1	0	0	0	0	0	0	0	1	7831	697	25	2		2	IRF3	19	50163010	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		50163010	8965973	5	33714											
FPR3	2359	broad.mit.edu	37	chr19	52327322	52327322	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcatgttatgatagacatCaacctgtttgtcagtgtcta	8	7	4	2			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:52327322C>A	ENST00000339223.4	+	2	500	c.321C>A	c.(319-321)atC>atA	p.I107I	FPR3_ENST00000595991.1_Silent_p.I107I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	107					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						TGATAGACATCAACCTGTTTG	0.478																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(319-321)atC>atA		formyl peptide receptor 3							111	91	98					19																	52327322		2203	4300	6503	SO:0001819	synonymous_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327322C>A		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.321C>A	19.37:g.52327322C>A						FPR3_ENST00000595991.1_Silent_p.I107I	p.I107I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	500	+			107						Silent	SNP	ENST00000339223.4	37	c.321C>A	CCDS12841.1																																																																																				0.478	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		7	84	1	0	0.00198382	1	0.00210781	7	84					A	52327322	C	A	52327322	2	1	358	1	0	0	0	0	0	0	0	1	6040	816	29	4		4	FPR3	19	52327322	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08	2164312	52327322	6801661	6	33715											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954492	12954492	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggtagtacaggcagAggaatggagagtccaagtca	16	6	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:12954492A>G	ENST00000235347.4	-	3	870	c.791T>C	c.(790-792)cTc>cCc	p.L264P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	264					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)		GTACAGGCAGAGGAATGGAGA	0.463																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(790-792)cTc>cCc		PRAME family member 10							175	123	140					1																	12954492		1910	4104	6014	SO:0001583	missense	343071							g.chr1:12954492A>G	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.791T>C	1.37:g.12954492A>G	ENSP00000235347:p.Leu264Pro						p.L264P	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		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)	3	870	-	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)	264					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.791T>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	7.293	0.611438	0.14066	.	.	ENSG00000187545	ENST00000235347	T	0.19806	2.12	1.57	0.415	0.16411	.	1.571920	0.03445	N	0.209887	T	0.17789	0.0427	L	0.41027	1.25	0.09310	N	0.999997	B	0.28026	0.198	B	0.30572	0.117	T	0.21586	-1.0241	10	0.31617	T	0.26	.	2.9963	0.06000	0.7028:0.0:0.2972:0.0	.	264	O60809	PRA10_HUMAN	P	264	ENSP00000235347:L264P	ENSP00000235347:L264P	L	-	2	0	PRAMEF10	12877079	0.003000	0.15002	0.006000	0.13384	0.288000	0.27193	0.268000	0.18571	0.104000	0.17725	0.163000	0.16589	CTC		0.463	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		68	112	0	0	0	1	0	68	112					G	12954492	A	G	12954492	3	3	359	1	0	0	0	0	1	0	0	0	12426	304	11	3	641	3	PRAMEF10	1	12954492	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		12954492	236296129	1	33716											
KDM1A	23028	broad.mit.edu	37	chr1	23405608	23405608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagccgttcagtttgtgCcacctctccctgagtggaaa	9	14	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:23405608C>T	ENST00000356634.3	+	15	2070	c.1921C>T	c.(1921-1923)Cca>Tca	p.P641S	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.P665S|KDM1A_ENST00000400181.4_Missense_Mutation_p.P665S	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	641	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCAGTTTGTGCCACCTCTCCC	0.512																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1993-1995)Cca>Tca		lysine (K)-specific demethylase 1A							99	98	99					1																	23405608		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23405608C>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1921C>T	1.37:g.23405608C>T	ENSP00000349049:p.Pro641Ser					KDM1A_ENST00000542151.1_Missense_Mutation_p.P665S|KDM1A_ENST00000356634.3_Missense_Mutation_p.P641S|RP1-184J9.2_ENST00000427154.1_RNA	p.P665S	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			17	2097	+			641			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.1993C>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379367	0.95945	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.96300	-3.97;-3.97;-3.97	5.92	5.92	0.95590	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99239	1.0884	10	0.87932	D	0	-17.0866	19.3225	0.94248	0.0:1.0:0.0:0.0	.	665;641	O60341-2;O60341	.;KDM1A_HUMAN	S	641;665;665	ENSP00000349049:P641S;ENSP00000383042:P665S;ENSP00000439072:P665S	ENSP00000349049:P641S	P	+	1	0	KDM1A	23278195	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.800000	0.85949	2.822000	0.97130	0.650000	0.86243	CCA		0.512	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		6	169	0	0	0	1	0	6	169					T	23405608	C	T	23405608	3	4	359	1	0	0	0	0	1	0	0	0	8122	739	26	2	2059	2	KDM1A	1	23405608	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	10451116	23405608	225845013	2	33717											
DCAF8	50717	broad.mit.edu	37	chr1	160209956	160209956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcattaatggagtaatgaCcagtgtcctccatgctgtca	8	10	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:160209956C>A	ENST00000368073.3	-	4	688	c.254G>T	c.(253-255)gGt>gTt	p.G85V	DCAF8_ENST00000608310.1_Missense_Mutation_p.G239V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V|DCAF8_ENST00000610139.1_Missense_Mutation_p.G85V|DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000475733.1_Missense_Mutation_p.G85V			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	85					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGAGTAATGACCAGTGTCCTC	0.537																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(253-255)gGt>gTt		DDB1 and CUL4 associated factor 8							111	81	91					1																	160209956		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209956C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.254G>T	1.37:g.160209956C>A	ENSP00000357052:p.Gly85Val					DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V	p.G85V			Q5TAQ9	DCAF8_HUMAN			4	688	-			85					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.254G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998123	0.74818	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.12;-0.12	5.03	5.03	0.67393	.	0.000000	0.56097	U	0.000028	T	0.63768	0.2539	L	0.40543	1.245	0.80722	D	1	D;D;P	0.61080	0.961;0.989;0.868	P;P;B	0.57776	0.732;0.827;0.307	T	0.61407	-0.7069	10	0.30854	T	0.27	-10.83	17.1617	0.86805	0.0:1.0:0.0:0.0	.	239;85;85	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	V	85;85;85;239;66;85;85;85;239;297	ENSP00000357052:G85V;ENSP00000318227:G85V;ENSP00000357053:G85V;ENSP00000451989:G239V;ENSP00000451235:G239V	ENSP00000318227:G85V	G	-	2	0	RP11-574F21.3;DCAF8	158476580	0.938000	0.31826	1.000000	0.80357	0.981000	0.71138	2.905000	0.48727	2.328000	0.79073	0.650000	0.86243	GGT		0.537	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		8	21	1	0	0.000157383	1	0.000172684	8	21					A	160209956	C	A	160209956	3	1	359	1	0	0	0	0	1	0	0	0	4276	507	18	4	1583	4	DCAF8	1	160209956	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	136804348	160209956	89040665	3	33718											
CNTN2	6900	broad.mit.edu	37	chr1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggagaacatggcagtcCgcccagcaccacaccctggc	12	15	0	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:205042816C>T	ENST00000331830.4	+	23	3330	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1016					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)			CATGGCAGTCCGCCCAGCACC	0.607																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				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						c.(3046-3048)Cgc>Tgc		contactin 2 (axonal)							126	99	108					1																	205042816		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042816C>T	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.3046C>T	1.37:g.205042816C>T	ENSP00000330633:p.Arg1016Cys						p.R1016C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		23	3330	+	all_cancers(21;0.144)|Breast(84;0.0437)		1016					P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.3046C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301901	0.23736	.	.	ENSG00000184144	ENST00000331830	T	0.61859	0.07	4.9	-8.38	0.00973	.	0.812561	0.09709	U	0.765980	T	0.40839	0.1133	L	0.47716	1.5	0.21064	N	0.999794	B	0.02656	0.0	B	0.01281	0.0	T	0.28038	-1.0056	10	0.46703	T	0.11	.	6.6956	0.23197	0.2658:0.4631:0.0:0.2712	.	1016	Q02246	CNTN2_HUMAN	C	1016	ENSP00000330633:R1016C	ENSP00000330633:R1016C	R	+	1	0	CNTN2	203309439	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.917000	0.04025	-1.679000	0.01452	-0.258000	0.10820	CGC		0.607	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		8	69	0	0	0	1	0	8	69					T	205042816	C	T	205042816	3	4	359	1	0	0	0	0	1	0	0	0	3641	652	23	1	3132	1	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	44832860	205042816	44207805	4	33719											
APOB	338	broad.mit.edu	37	chr2	21241933	21241933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggagctcataggttgCgctgacagaatactgctcaa	10	10	3	2	rs149357946	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:21241933C>T	ENST00000233242.1	-	20	3179	c.3052G>A	c.(3052-3054)Gca>Aca	p.A1018T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1018					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)					TCATAGGTTGCGCTGACAGAA	0.453													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20127	0.001		0.0	False		,,,				2504	0.0					ENST00000233242.1																			0				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						c.(3052-3054)Gca>Aca		apolipoprotein B	Atorvastatin(DB01076)						146	134	138					2																	21241933		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21241933C>T	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.3052G>A	2.37:g.21241933C>T	ENSP00000233242:p.Ala1018Thr						p.A1018T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			20	3179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1018					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3052G>A	CCDS1703.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.64	3.666931	0.67814	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.14893	2.47	4.3	4.3	0.51218	Lipid transport protein, beta-sheet shell (1);Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.259980	0.26609	N	0.023421	T	0.25531	0.0621	L	0.38531	1.155	0.51767	D	0.99993	D	0.63046	0.992	P	0.55222	0.771	T	0.01692	-1.1294	10	0.28530	T	0.3	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	1018	P04114	APOB_HUMAN	T	1018	ENSP00000233242:A1018T	ENSP00000233242:A1018T	A	-	1	0	APOB	21095438	0.286000	0.24305	0.325000	0.25375	0.797000	0.45037	1.125000	0.31332	2.325000	0.78763	0.460000	0.39030	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			41	77	0	0	0	1	0	41	77					T	21241933	C	T	21241933	3	4	359	1	0	0	0	0	1	0	0	0	785	768	27	1	10679	1	APOB	2	21241933	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		21241933	221957440	5	33720											
OTOF	9381	broad.mit.edu	37	chr2	26688866	26688866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagttctccttgtcgcGgatgtcagtcttgcctagcc	11	11	3	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:26688866G>A	ENST00000272371.2	-	37	4705	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1527	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGTCGCGGATGTCAGTC	0.587																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4579-4581)Cgc>Tgc		otoferlin							236	186	203					2																	26688866		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26688866G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4579C>T	2.37:g.26688866G>A	ENSP00000272371:p.Arg1527Cys					OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C|OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C	p.R1527C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			37	4705	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1527			C2 4.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4579C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548753	0.65311	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.58	2.71	0.32032	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.256266	0.38897	N	0.001537	T	0.70675	0.3251	L	0.37561	1.115	0.47949	D	0.99955	P;D;D;D	0.76494	0.933;0.959;0.999;0.959	P;P;P;P	0.59424	0.627;0.764;0.857;0.764	T	0.68322	-0.5439	10	0.56958	D	0.05	-4.6363	8.5908	0.33686	0.0737:0.0:0.3838:0.5425	.	1527;760;837;760	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	760;760;837;1527;1527	ENSP00000345137:R760C;ENSP00000344521:R760C;ENSP00000383906:R837C;ENSP00000272371:R1527C;ENSP00000385255:R1527C	ENSP00000272371:R1527C	R	-	1	0	OTOF	26542370	1.000000	0.71417	0.899000	0.35326	0.988000	0.76386	3.955000	0.56715	0.288000	0.22398	0.555000	0.69702	CGC		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			9	81	0	0	0	1	0	9	81					A	26688866	G	A	26688866	3	1	359	1	0	0	0	0	1	0	0	0	11303	1116	39	1	1639	1	OTOF	2	26688866	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	5446933	26688866	216510507	6	33721											
TRIM54	57159	broad.mit.edu	37	chr2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaaatgtgccaacgacGtcttccaggtgggtgccagg	14	12	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:27505759G>A	ENST00000380075.2	+	1	500	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000296098.4_Missense_Mutation_p.V54I	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(160-162)Gtc>Atc		tripartite motif containing 54							177	156	163					2																	27505759		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505759G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.160G>A	2.37:g.27505759G>A	ENSP00000369415:p.Val54Ile					TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		54					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.160G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491292	0.12702	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.072630	0.64402	D	0.000018	T	0.09158	0.0226	N	0.10972	0.075	0.58432	D	0.999997	B;B	0.18013	0.003;0.025	B;B	0.15870	0.009;0.014	T	0.08371	-1.0725	10	0.02654	T	1	-26.3073	16.858	0.86010	0.0:0.0:1.0:0.0	.	54;54	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	I	54	ENSP00000369415:V54I;ENSP00000296098:V54I	ENSP00000296098:V54I	V	+	1	0	TRIM54	27359263	0.116000	0.22171	0.997000	0.53966	0.939000	0.58152	0.567000	0.23608	2.568000	0.86640	0.462000	0.41574	GTC		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		6	322	0	0	0	1	0	6	322					A	27505759	G	A	27505759	3	1	359	1	0	0	0	0	1	0	0	0	16525	1145	40	1	162	1	TRIM54	2	27505759	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	816893	27505759	215693614	7	33722											
ABCG5	64240	broad.mit.edu	37	chr2	44050052	44050052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcctgactctcctggtcGctgacagctcgcagcacggg	12	16	1	2	rs139361486	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:44050052G>A	ENST00000260645.1	-	10	1486	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	ABCG5_ENST00000405322.1_Silent_p.S278S|ABCG5_ENST00000543989.1_Silent_p.S54S	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	449	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)	TCTCCTGGTCGCTGACAGCTC	0.567													g|||	5	0.000998403	0.0	0.0	5008	,	,		14216	0.004		0.0	False		,,,				2504	0.001					ENST00000543989.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(160-162)agC>agT		ATP-binding cassette, sub-family G (WHITE), member 5				0,4406		0,0,2203	74	50	58		1347	-5.8	0.8	2	dbSNP_134	58	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ABCG5	NM_022436.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		449/652	44050052	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44050052G>A	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.1347C>T	2.37:g.44050052G>A						ABCG5_ENST00000405322.1_Silent_p.S278S|ABCG5_ENST00000260645.1_Silent_p.S449S	p.S54S			Q9H222	ABCG5_HUMAN			6	1867	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	449			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.162C>T	CCDS1814.1																																																																																				0.567	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		15	23	0	0	0	1	0	15	23					A	44050052	G	A	44050052	2	1	359	1	0	0	0	0	0	0	0	1	71	1078	38	1		1	ABCG5	2	44050052	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	16544293	44050052	199149321	8	33723											
SLC1A4	6509	broad.mit.edu	37	chr2	65248050	65248050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttttcccaccagggacCggaccaccacggtggtgaat	10	14	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:65248050C>T	ENST00000234256.3	+	8	1612	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	457					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CACCAGGGACCGGACCACCAC	0.552																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1369-1371)Cgg>Tgg		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						75	78	77					2																	65248050		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65248050C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1369C>T	2.37:g.65248050C>T	ENSP00000234256:p.Arg457Trp					SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W	p.R457W	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			8	1612	+			457					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.1369C>T	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556740	0.86231	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.60920	0.15;0.15	5.79	3.95	0.45737	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88415	0.3024	10	0.87932	D	0	-3.8728	15.5028	0.75713	0.2288:0.7712:0.0:0.0	.	457;159	P43007;B7Z3C0	SATT_HUMAN;.	W	159;377;457	ENSP00000431942:R159W;ENSP00000234256:R457W	ENSP00000234256:R457W	R	+	1	2	SLC1A4	65101554	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	5.863000	0.69568	0.753000	0.32945	0.555000	0.69702	CGG		0.552	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		38	101	0	0	0	1	0	38	101					T	65248050	C	T	65248050	3	4	359	1	0	0	0	0	1	0	0	0	14434	643	23	1	1399	1	SLC1A4	2	65248050	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	21197998	65248050	177951323	9	33724											
SLC35F5	80255	broad.mit.edu	37	chr2	114480706	114480706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatacacatgtcagctattAtggacagaggtattgtaagg	11	6	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:114480706A>G	ENST00000245680.2	-	13	1729	c.1316T>C	c.(1315-1317)aTa>aCa	p.I439T	SLC35F5_ENST00000470204.2_5'UTR|MIR4782_ENST00000577987.1_RNA	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	439					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCAGCTATTATGGACAGAGG	0.308																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1315-1317)aTa>aCa		solute carrier family 35, member F5							109	116	113					2																	114480706		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114480706A>G	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1316T>C	2.37:g.114480706A>G	ENSP00000245680:p.Ile439Thr					SLC35F5_ENST00000470204.2_5'UTR	p.I439T	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			13	1729	-			439					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1316T>C	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.533758	0.64972	.	.	ENSG00000115084	ENST00000245680;ENST00000409106	T;T	0.47869	0.83;0.83	5.28	5.28	0.74379	.	0.174880	0.48286	D	0.000189	T	0.41858	0.1177	L	0.42245	1.32	0.80722	D	1	B	0.33694	0.421	B	0.30646	0.118	T	0.41858	-0.9485	10	0.56958	D	0.05	-11.0929	15.5626	0.76262	1.0:0.0:0.0:0.0	.	439	Q8WV83	S35F5_HUMAN	T	439;433	ENSP00000245680:I439T;ENSP00000386754:I433T	ENSP00000245680:I439T	I	-	2	0	SLC35F5	114197176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.669000	0.91163	2.147000	0.66899	0.477000	0.44152	ATA		0.308	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		36	89	0	0	0	1	0	36	89					G	114480706	A	G	114480706	3	3	359	1	0	0	0	0	1	0	0	0	14592	449	16	3	267	3	SLC35F5	2	114480706	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	49232656	114480706	128718667	10	33725											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	53	0	0	0	1	0	18	53					A	209113113	G	A	209113113	3	1	359	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	94632407	209113113	34086260	11	33726											
CXCR2	3579	broad.mit.edu	37	chr2	219000218	219000218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcatgctgttctgctacGgattcaccctgcgtacgctg	10	12	3	1	rs201103729		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219000218G>A	ENST00000318507.2	+	3	1121	c.694G>A	c.(694-696)Gga>Aga	p.G232R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	232					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTTCTGCTACGGATTCACCCT	0.567																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(694-696)Gga>Aga		chemokine (C-X-C motif) receptor 2							198	184	189					2																	219000218		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000218G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.694G>A	2.37:g.219000218G>A	ENSP00000319635:p.Gly232Arg						p.G232R	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1121	+			232					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.694G>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152360	0.38021	.	.	ENSG00000180871	ENST00000318507	T	0.72725	-0.68	5.4	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.055536	0.64402	D	0.000001	D	0.84933	0.5582	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77496	-0.2566	9	.	.	.	.	8.1011	0.30857	0.0816:0.0:0.7614:0.157	.	232	P25025	CXCR2_HUMAN	R	232	ENSP00000319635:G232R	.	G	+	1	0	CXCR2	218708463	0.999000	0.42202	0.034000	0.17996	0.245000	0.25701	3.027000	0.49697	1.285000	0.44548	0.462000	0.41574	GGA		0.567	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		93	224	0	0	0	1	0	93	224					A	219000218	G	A	219000218	3	1	359	1	0	0	0	0	1	0	0	0	4091	1117	39	1	696	1	CXCR2	2	219000218	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	9887105	219000218	24199155	12	33727											
PLCD4	84812	broad.mit.edu	37	chr2	219500985	219500985	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggttttaatccatactggggGcagacactatgtttccgggt	12	8	0	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219500985G>C	ENST00000450993.2	+	15	2391	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G	PLCD4_ENST00000432688.1_Silent_p.G716G|PLCD4_ENST00000417849.1_Silent_p.G684G|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	684	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		CATACTGGGGGCAGACACTAT	0.418																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(2050-2052)ggG>ggC		phospholipase C, delta 4							191	184	187					2																	219500985		1946	4137	6083	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219500985G>C	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.2052G>C	2.37:g.219500985G>C						PLCD4_ENST00000432688.1_Silent_p.G716G|PLCD4_ENST00000417849.1_Silent_p.G684G	p.G684G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	15	2391	+		Renal(207;0.0915)	684			C2.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.2052G>C	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	7.969	0.748568	0.15710	.	.	ENSG00000115556	ENST00000457773	.	.	.	5.17	1.32	0.21799	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26677	-1.0096	4	.	.	.	.	0.6216	0.00779	0.2995:0.2073:0.3177:0.1755	.	.	.	.	P	33	.	.	A	+	1	0	PLCD4	219209229	0.834000	0.29399	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.353000	0.24079	-0.136000	0.14681	GCA		0.418	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			74	161	0	0	0	1	0	74	161					C	219500985	G	C	219500985	2	2	359	1	0	0	0	0	0	0	0	1	12033	1190	42	4		4	PLCD4	2	219500985	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	500767	219500985	23698388	13	33728											
IRS1	3667	broad.mit.edu	37	chr2	227660233	227660233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggttaggactgaggttcacCcgggtgaaggcgctcatgcc	15	11	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:227660233C>T	ENST00000305123.5	-	1	4242	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1074					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)		TGAGGTTCACCCGGGTGAAGG	0.647																																						ENST00000305123.4																			0				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						c.(3220-3222)cgG>cgA		insulin receptor substrate 1							60	60	60					2																	227660233		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660233C>T		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.3222G>A	2.37:g.227660233C>T							p.R1074R	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4242	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1074						Silent	SNP	ENST00000305123.5	37	c.3222G>A	CCDS2463.1																																																																																				0.647	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		44	91	0	0	0	1	0	44	91					T	227660233	C	T	227660233	2	4	359	1	0	0	0	0	0	0	0	1	7840	610	22	2		2	IRS1	2	227660233	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	8159248	227660233	15539140	14	33729											
HRH1	3269	broad.mit.edu	37	chr3	11300958	11300958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacttgatcgtgggtgccGtcgtcatgcctatgaacatc	12	11	1	2	rs200571067	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:11300958G>A	ENST00000397056.1	+	3	426	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	HRH1_ENST00000438284.2_Missense_Mutation_p.V79I|HRH1_ENST00000431010.2_Missense_Mutation_p.V79I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	79					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)	CGTGGGTGCCGTCGTCATGCC	0.582													G|||	3	0.000599042	0.0	0.0029	5008	,	,		20103	0.0		0.0	False		,,,				2504	0.001					ENST00000397056.1																			0				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						c.(235-237)Gtc>Atc		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	170	137	148		235,235,235,235	3.2	0	3		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HRH1	NM_001098213.1,NM_001098212.1,NM_001098211.1,NM_000861.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	79/488,79/488,79/488,79/488	11300958	1,13005	2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11300958G>A		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.235G>A	3.37:g.11300958G>A	ENSP00000380247:p.Val79Ile					HRH1_ENST00000431010.2_Missense_Mutation_p.V79I|HRH1_ENST00000438284.2_Missense_Mutation_p.V79I	p.V79I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	426	+			79					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.235G>A	CCDS2604.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.083	0.383551	0.11524	0.0	1.16E-4	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.72725	-0.68;-0.68;-0.68	5.87	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.231690	0.43579	N	0.000555	T	0.53158	0.1779	N	0.20685	0.6	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.37126	-0.9719	10	0.30078	T	0.28	-13.1373	11.1049	0.48197	0.1963:0.0:0.8037:0.0	.	79	P35367	HRH1_HUMAN	I	79	ENSP00000406705:V79I;ENSP00000397028:V79I;ENSP00000380247:V79I	ENSP00000380247:V79I	V	+	1	0	HRH1	11275958	0.336000	0.24757	0.001000	0.08648	0.748000	0.42578	2.586000	0.46119	0.406000	0.25560	0.655000	0.94253	GTC		0.582	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			6	99	0	0	0	1	0	6	99					A	11300958	G	A	11300958	3	1	359	1	0	0	0	0	1	0	0	0	7355	1145	40	1	237	1	HRH1	3	11300958	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		11300958	186721472	15	33730											
EPHA6	285220	broad.mit.edu	37	chr3	96706583	96706583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttcaagacattggggCgtgcattgccctggtttcag	13	9	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:96706583C>T	ENST00000389672.5	+	3	898	c.860C>T	c.(859-861)gCg>gTg	p.A287V	EPHA6_ENST00000470610.2_Missense_Mutation_p.A287V|EPHA6_ENST00000542517.1_Missense_Mutation_p.A193V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	193						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACATTGGGGCGTGCATTGCC	0.458																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(859-861)gCg>gTg		EPH receptor A6							231	241	238					3																	96706583		1955	4185	6140	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706583C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.860C>T	3.37:g.96706583C>T	ENSP00000374323:p.Ala287Val					EPHA6_ENST00000542517.1_Missense_Mutation_p.A193V|EPHA6_ENST00000470610.2_Missense_Mutation_p.A287V	p.A287V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	898	+			192					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.860C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345000	0.82022	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.05855	3.38;3.38;3.38	5.48	5.48	0.80851	.	0.000000	0.64402	U	0.000003	T	0.38108	0.1028	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53394	-0.8445	10	0.87932	D	0	.	18.3424	0.90309	0.0:1.0:0.0:0.0	.	287;287	B3KS12;E7EU71	.;.	V	287;287;193	ENSP00000420598:A287V;ENSP00000374323:A287V;ENSP00000439758:A193V	ENSP00000374323:A287V	A	+	2	0	EPHA6	98189273	1.000000	0.71417	0.993000	0.49108	0.641000	0.38312	7.818000	0.86416	2.554000	0.86153	0.655000	0.94253	GCG		0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		6	301	0	0	0	1	0	6	301					T	96706583	C	T	96706583	3	4	359	1	0	0	0	0	1	0	0	0	5171	768	27	1	870	1	EPHA6	3	96706583	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	85405625	96706583	101315847	16	33731											
GPR128	84873	broad.mit.edu	37	chr3	100365452	100365452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactctattcctatgcctgtGtctattggaatttgtcagcg	8	9	3	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:100365452G>T	ENST00000273352.3	+	10	1418	c.1150G>T	c.(1150-1152)Gtc>Ttc	p.V384F	GPR128_ENST00000475887.1_Missense_Mutation_p.V89F|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	384	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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						CTATGCCTGTGTCTATTGGAA	0.373																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				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						c.(1150-1152)Gtc>Ttc		G protein-coupled receptor 128							92	95	94					3																	100365452		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365452G>T	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.1150G>T	3.37:g.100365452G>T	ENSP00000273352:p.Val384Phe					GPR128_ENST00000475887.1_Missense_Mutation_p.V89F	p.V384F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1418	+			384			GPS.		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1150G>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004510	0.54254	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.73469	-0.75;-0.75	5.62	5.62	0.85841	GPS domain (3);	0.120193	0.36972	N	0.002310	D	0.91513	0.7320	H	0.98238	4.18	0.41422	D	0.987804	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94358	0.7585	10	0.72032	D	0.01	.	16.3824	0.83473	0.0:0.0:1.0:0.0	.	89;384	E9PHI0;Q96K78	.;GP128_HUMAN	F	384;89	ENSP00000273352:V384F;ENSP00000419788:V89F	ENSP00000273352:V384F	V	+	1	0	GPR128	101848142	1.000000	0.71417	0.903000	0.35520	0.062000	0.15995	4.907000	0.63300	2.625000	0.88918	0.655000	0.94253	GTC		0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	71	1	0	3.59834e-05	1	4.00378e-05	4	71					T	100365452	G	T	100365452	3	4	359	1	0	0	0	0	1	0	0	0	6641	1377	48	4	1188	4	GPR128	3	100365452	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	3658869	100365452	97656978	17	33732											
SENP2	59343	broad.mit.edu	37	chr3	185316806	185316806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggaacaacatgctgAaactgggtgaggtggtcaaa	13	7	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:185316806A>G	ENST00000296257.5	+	4	592	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_Intron|SENP2_ENST00000545472.1_Missense_Mutation_p.K108E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	118					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACATGCTGAAACTGGGTGA	0.368																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(352-354)Aaa>Gaa		SUMO1/sentrin/SMT3 specific peptidase 2							134	129	131					3																	185316806		2203	4300	6503	SO:0001583	missense	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185316806A>G	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.352A>G	3.37:g.185316806A>G	ENSP00000296257:p.Lys118Glu					SENP2_ENST00000545472.1_Missense_Mutation_p.K108E|SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR	p.K118E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		4	592	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		118					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	c.352A>G	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.958909	0.34565	.	.	ENSG00000163904	ENST00000430355;ENST00000545472;ENST00000296257	T;T	0.22539	1.95;1.96	5.11	5.11	0.69529	.	0.320946	0.27549	N	0.018880	T	0.12646	0.0307	N	0.14661	0.345	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.22152	0.031;0.038	T	0.14531	-1.0469	10	0.23891	T	0.37	-8.9862	11.4649	0.50232	1.0:0.0:0.0:0.0	.	108;118	B4DQ42;Q9HC62	.;SENP2_HUMAN	E	172;108;118	ENSP00000439653:K108E;ENSP00000296257:K118E	ENSP00000296257:K118E	K	+	1	0	SENP2	186799500	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.566000	0.45948	2.270000	0.75569	0.482000	0.46254	AAA		0.368	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		14	35	0	0	0	1	0	14	35					G	185316806	A	G	185316806	3	3	359	1	0	0	0	0	1	0	0	0	14047	247	9	3	366	3	SENP2	3	185316806	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	84951354	185316806	12705624	18	33733											
TP63	8626	broad.mit.edu	37	chr3	189586404	189586404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgctgctttgaggcccGgatctgtgcttgcccaggaa	13	13	1	1	rs121908841		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:189586404G>T	ENST00000264731.3	+	8	1117	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000392463.2_Missense_Mutation_p.R249L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	343			R -> Q (in EEC3). {ECO:0000269|PubMed:10839977, ECO:0000269|PubMed:11462173}.|R -> W (in EEC3). {ECO:0000269|PubMed:11462173}.		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)	p.R343Q(1)		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)		TTTGAGGCCCGGATCTGTGCT	0.488										HNSCC(45;0.13)																												ENST00000264731.3																			1	Substitution - Missense(1)	p.R343Q(1)	large_intestine(1)	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	GRCh37	CM001823|CM030108	TP63	M	rs121908841	c.(1027-1029)cGg>cTg		tumor protein p63							72	71	71					3																	189586404		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586404G>T	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.1028G>T	3.37:g.189586404G>T	ENSP00000264731:p.Arg343Leu	HNSCC(45;0.13)				TP63_ENST00000392463.2_Missense_Mutation_p.R249L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L	p.R343L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1117	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		343		R -> Q (in EEC3).|R -> W (in EEC3).			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	ENST00000264731.3	37	c.1028G>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116909	0.77323	.	.	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	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.83	5.83	0.93111	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	0.99880	0.9943	M	0.89904	3.07	0.80722	D	1	D;P;D;P;D;P;P;D;D;P	0.62365	0.957;0.794;0.957;0.917;0.957;0.917;0.932;0.991;0.965;0.917	D;P;D;P;D;P;P;D;D;P	0.66979	0.913;0.762;0.913;0.849;0.913;0.849;0.907;0.937;0.948;0.849	D	0.96911	0.9667	9	.	.	.	-15.0836	19.1141	0.93331	0.0:0.0:1.0:0.0	.	164;343;343;249;249;249;249;343;343;343	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	L	343;343;343;343;343;258;249;249;249;249;164;249	ENSP00000264731:R343L;ENSP00000407144:R343L;ENSP00000317510:R343L;ENSP00000376253:R343L;ENSP00000394337:R343L;ENSP00000371495:R258L;ENSP00000346614:R249L;ENSP00000392488:R249L;ENSP00000376256:R249L;ENSP00000376254:R249L;ENSP00000387839:R164L;ENSP00000389485:R249L	.	R	+	2	0	TP63	191069098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	CGG		0.488	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		7	72	1	0	0.0381472	1	0.0391381	7	72					T	189586404	G	T	189586404	3	4	359	1	0	0	0	0	1	0	0	0	16389	1116	39	4	1104	4	TP63	3	189586404	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	4269598	189586404	8436026	19	33734											
BOD1L	259282	broad.mit.edu	37	chr4	13602746	13602746	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaacattattttcattTgcattcatgatggcagctcc	6	10	3	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:13602746T>G	ENST00000040738.5	-	10	5913	c.5778A>C	c.(5776-5778)gcA>gcC	p.A1926A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1926						nucleus (GO:0005634)	DNA binding (GO:0003677)										TATTTTCATTTGCATTCATGA	0.458																																						ENST00000040738.5																			0											c.(5776-5778)gcA>gcC		biorientation of chromosomes in cell division 1-like 1							106	102	103					4																	13602746		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13602746T>G	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.5778A>C	4.37:g.13602746T>G							p.A1926A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	5913	-			1926					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5778A>C	CCDS3411.2																																																																																				0.458	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		9	67	0	0	0	1	0	9	67					G	13602746	T	G	13602746	2	3	359	1	0	0	0	0	0	0	0	1	1483	1799	63	5		5	BOD1L	4	13602746	Silent	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		13602746	177551530	20	33735											
KLF3	51274	broad.mit.edu	37	chr4	38690343	38690343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagccagtggacctcacGgtgaacaagcggagttcacc	13	11	2	1	rs373502495		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:38690343G>A	ENST00000261438.5	+	3	500	c.195G>A	c.(193-195)acG>acA	p.T65T	KLF3_ENST00000514033.1_Silent_p.T65T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	65	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGGACCTCACGGTGAACAAGC	0.567																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(193-195)acG>acA		Kruppel-like factor 3 (basic)		G		0,4406		0,0,2203	78	66	70		195	-8	0.6	4		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLF3	NM_016531.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		65/346	38690343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38690343G>A	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.195G>A	4.37:g.38690343G>A						KLF3_ENST00000514033.1_Silent_p.T65T	p.T65T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			3	500	+			65			Pro-rich.|Repressor domain.		Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	ENST00000261438.5	37	c.195G>A	CCDS3444.1																																																																																				0.567	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			9	78	0	0	0	1	0	9	78					A	38690343	G	A	38690343	2	1	359	1	0	0	0	0	0	0	0	1	8347	1103	39	1		1	KLF3	4	38690343	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	25087597	38690343	152463933	21	33736											
SPATA18	132671	broad.mit.edu	37	chr4	52951155	52951155	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccccgtagccaaattgGtttaaacacggtacatatct	7	11	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:52951155G>C	ENST00000295213.4	+	11	1927	c.1553G>C	c.(1552-1554)gGt>gCt	p.G518A	SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	518					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCCAAATTGGTTTAAACACG	0.363																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1552-1554)gGt>gCt		spermatogenesis associated 18							92	94	93					4																	52951155		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52951155G>C	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1553G>C	4.37:g.52951155G>C	ENSP00000295213:p.Gly518Ala					SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A	p.G518A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		11	1927	+			518					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1553G>C	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	3.331	-0.136676	0.06711	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.31510	1.49;1.52	5.02	4.12	0.48240	.	0.532723	0.19114	N	0.122377	T	0.15392	0.0371	N	0.16478	0.41	0.09310	N	0.999998	B;B	0.26708	0.157;0.06	B;B	0.24974	0.057;0.057	T	0.19192	-1.0313	10	0.05525	T	0.97	-5.024	10.8673	0.46862	0.0:0.1903:0.8097:0.0	.	486;518	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	A	518;486	ENSP00000295213:G518A;ENSP00000415309:G486A	ENSP00000295213:G518A	G	+	2	0	SPATA18	52645912	0.981000	0.34729	0.607000	0.28956	0.069000	0.16628	2.537000	0.45702	2.753000	0.94483	0.655000	0.94253	GGT		0.363	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	44	0	0	0	1	0	4	44					C	52951155	G	C	52951155	3	2	359	1	0	0	0	0	1	0	0	0	15002	1261	44	4	1595	4	SPATA18	4	52951155	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	14260812	52951155	138203121	22	33737											
ADH1C	126	broad.mit.edu	37	chr4	100264168	100264168	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccataacaacagataggccGacccctcccaggccaaacac	6	18	0	1	rs78113489		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:100264168G>A	ENST00000510055.1	-	0	786				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAGATAGGCCGACCCCTCCCA	0.438																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)	G		0,4406		0,0,2203	189	194	193		612	-6.9	0.9	4	dbSNP_131	193	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ADH1C	NM_000669.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		204/376	100264168	5,13001	2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100264168G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100264168G>A						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	786	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.438	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		13	286	0	0	0	1	0	13	286					A	100264168	G	A	100264168	1	1	359	0	1	0	0	0	0	0	0	0	309	1045	37	1		1	ADH1C	4	100264168	RNA	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	47313013	100264168	90890108	23	33738											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367509	184367509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcctctcaggtaacaacGgcaggatctgggaaagcttc	11	10	2	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:184367509G>A	ENST00000504169.1	+	3	879	c.672G>A	c.(670-672)acG>acA	p.T224T	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	224	Ser-rich.				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)		AGGTAACAACGGCAGGATCTG	0.488																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(670-672)acG>acA		CDKN2A interacting protein							82	78	79					4																	184367509		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367509G>A	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.672G>A	4.37:g.184367509G>A						CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.T224T	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		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)	3	879	+		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)	224			Ser-rich.		Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.672G>A	CCDS34110.1																																																																																				0.488	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		4	95	0	0	0	1	0	4	95					A	184367509	G	A	184367509	2	1	359	1	0	0	0	0	0	0	0	1	3162	1103	39	1		1	CDKN2AIP	4	184367509	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	84103341	184367509	6786767	24	33739											
PDZD2	23037	broad.mit.edu	37	chr5	32072325	32072325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcccacgatgtccctggccCcttgtcagacttcatggtgg	11	14	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:32072325C>G	ENST00000438447.1	+	17	3015	c.2627C>G	c.(2626-2628)cCc>cGc	p.P876R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R			O15018	PDZD2_HUMAN	PDZ domain containing 2	876					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						GTCCCTGGCCCCTTGTCAGAC	0.547																																						ENST00000438447.1																			0				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						c.(2626-2628)cCc>cGc		PDZ domain containing 2							131	125	127					5																	32072325		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32072325C>G	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.2627C>G	5.37:g.32072325C>G	ENSP00000402033:p.Pro876Arg					PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R	p.P876R			O15018	PDZD2_HUMAN			17	3015	+			876					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2627C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543551	0.27563	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06294	3.32;3.32	5.68	1.9	0.25705	.	0.293167	0.24983	N	0.034051	T	0.05823	0.0152	N	0.24115	0.695	0.09310	N	1	P;P	0.50272	0.779;0.933	B;P	0.48030	0.168;0.564	T	0.27434	-1.0074	10	0.72032	D	0.01	.	5.2162	0.15344	0.1461:0.6173:0.0:0.2366	.	702;876	B4E3P2;O15018	.;PDZD2_HUMAN	R	876;680;876	ENSP00000402033:P876R;ENSP00000282493:P876R	ENSP00000282493:P876R	P	+	2	0	PDZD2	32108082	0.131000	0.22433	0.025000	0.17156	0.134000	0.20937	1.873000	0.39558	0.324000	0.23333	-0.251000	0.11542	CCC		0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			12	125	0	0	0	1	0	12	125					G	32072325	C	G	32072325	3	3	359	1	0	0	0	0	1	0	0	0	11701	623	22	4	2689	4	PDZD2	5	32072325	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		32072325	148842935	25	33740											
FBN2	2201	broad.mit.edu	37	chr5	127648342	127648342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgctattgacagggggGcatgtctcacaggggtttcc	13	9	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:127648342G>A	ENST00000508053.1	-	43	5837	c.4863C>T	c.(4861-4863)tgC>tgT	p.C1621C	FBN2_ENST00000262464.4_Silent_p.C1621C			P35556	FBN2_HUMAN	fibrillin 2	1621	TB 6.				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)		TGACAGGGGGGCATGTCTCAC	0.512																																						ENST00000508053.1																			0				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						c.(4861-4863)tgC>tgT		fibrillin 2							204	220	215					5																	127648342		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648342G>A	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.4863C>T	5.37:g.127648342G>A						FBN2_ENST00000262464.4_Silent_p.C1621C	p.C1621C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5837	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1621			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4863C>T	CCDS34222.1																																																																																				0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		5	422	0	0	0	1	0	5	422					A	127648342	G	A	127648342	2	1	359	1	0	0	0	0	0	0	0	1	5703	1195	42	2		2	FBN2	5	127648342	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	95576017	127648342	53266918	26	33741											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762775	140762775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagagtgcgcggtgtctGgtaaactttaacatcctgat	11	9	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:140762775G>A	ENST00000518325.1	+	1	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	103	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)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTAAACTTTA	0.483																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(307-309)ctG>ctA									53	62	59					5																	140762775		2154	4275	6429	SO:0001819	synonymous_variant	0							g.chr5:140762775G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.309G>A	5.37:g.140762775G>A						PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L103L	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	309	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.309G>A	CCDS54927.1																																																																																				0.483	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		9	86	0	0	0	1	0	9	86					A	140762775	G	A	140762775	2	1	359	1	0	0	0	0	0	0	0	1	11559	1335	47	2		2	PCDHGA7	5	140762775	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	13114433	140762775	40152485	27	33742											
SLC17A1	6568	broad.mit.edu	37	chr6	25813406	25813406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcatcataaaacagaaCgaaccagagaagacatacgg	11	8	2	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:25813406C>T	ENST00000244527.4	-	7	767	c.652G>A	c.(652-654)Gtt>Att	p.V218I	SLC17A1_ENST00000427328.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000468082.1_Missense_Mutation_p.V218I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	218					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAAAACAGAACGAACCAGAGA	0.458																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(652-654)Gtt>Att		solute carrier family 17 (organic anion transporter), member 1							144	134	137					6																	25813406		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25813406C>T		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.652G>A	6.37:g.25813406C>T	ENSP00000244527:p.Val218Ile					SLC17A1_ENST00000468082.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V218I|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V218I	p.V218I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			7	767	-			218					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.652G>A	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.290064	0.00019	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	3.83	-7.65	0.01281	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.858120	0.03158	N	0.168925	T	0.07279	0.0184	N	0.12663	0.25	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.13407	0.005;0.009	T	0.07347	-1.0777	10	0.10377	T	0.69	.	0.6119	0.00763	0.2991:0.1154:0.2412:0.3442	.	218;218	Q14916-2;Q14916	.;NPT1_HUMAN	I	218	ENSP00000244527:V218I;ENSP00000410549:V218I;ENSP00000420614:V218I;ENSP00000420546:V218I	ENSP00000244527:V218I	V	-	1	0	SLC17A1	25921385	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-9.308000	0.00012	-5.184000	0.00020	-3.091000	0.00065	GTT		0.458	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			4	85	0	0	0	1	0	4	85					T	25813406	C	T	25813406	3	4	359	1	0	0	0	0	1	0	0	0	14416	536	19	1	775	1	SLC17A1	6	25813406	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		25813406	145301661	28	33743											
GUCA1A	2978	broad.mit.edu	37	chr6	42146546	42146546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttccctcccaggccattCgcgccattaacccctgcagc	6	19	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:42146546C>T	ENST00000394237.1	+	5	1334	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGGCCATTCGCGCCATTAA	0.582																																						ENST00000394237.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(358-360)Cgc>Tgc		guanylate cyclase activator 1A (retina)							166	165	166					6																	42146546		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146546C>T		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"EF-hand domain containing"	4678	protein-coding gene	gene with protein product	"cone dystrophy 3"	600364	"chromosome 6 open reading frame 131"	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.358C>T	6.37:g.42146546C>T	ENSP00000377784:p.Arg120Cys					GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C	p.R120C			P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1334	+	Colorectal(47;0.196)		120			EF-hand 3.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.358C>T	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982017	0.74474	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.63	4.63	0.57726	EF-hand-like domain (1);	2.531660	0.02769	U	0.119499	T	0.76543	0.4002	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.64807	-0.6320	10	0.87932	D	0	.	10.2874	0.43575	0.1972:0.8028:0.0:0.0	.	120	P43080	GUC1A_HUMAN	C	120;124;120;120;120	ENSP00000437476:R120C;ENSP00000053469:R120C;ENSP00000377784:R120C;ENSP00000362049:R120C	ENSP00000053469:R120C	R	+	1	0	GUCA1A	42254524	0.994000	0.37717	0.993000	0.49108	0.962000	0.63368	2.831000	0.48144	2.113000	0.64589	0.561000	0.74099	CGC		0.582	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			34	359	0	0	0	1	0	34	359					T	42146546	C	T	42146546	3	4	359	1	0	0	0	0	1	0	0	0	6888	884	31	1	368	1	GUCA1A	6	42146546	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	16333140	42146546	128968521	29	33744											
SLC17A5	26503	broad.mit.edu	37	chr6	74325149	74325149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaagagcctaaataagGcaatgaagataaaaacccat	6	8	0	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:74325149G>A	ENST00000355773.5	-	8	1268	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	334			P -> R (in ISSD). {ECO:0000269|PubMed:10581036, ECO:0000269|PubMed:10947946}.		amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTAAATAAGGCAATGAAGAT	0.353																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1000-1002)Cct>Tct		solute carrier family 17 (acidic sugar transporter), member 5							86	80	82					6																	74325149		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325149G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1000C>T	6.37:g.74325149G>A	ENSP00000348019:p.Pro334Ser					SLC17A5_ENST00000393019.3_3'UTR	p.P334S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			8	1268	-			334		P -> R (in ISSD).			Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1000C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374265	0.61735	.	.	ENSG00000119899	ENST00000355773	T	0.57907	0.37	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85273	0.1057	10	0.87932	D	0	.	17.9228	0.88972	0.0:0.0:1.0:0.0	.	396;334	E1P537;Q9NRA2	.;S17A5_HUMAN	S	334	ENSP00000348019:P334S	ENSP00000348019:P334S	P	-	1	0	SLC17A5	74381870	1.000000	0.71417	0.996000	0.52242	0.271000	0.26615	8.678000	0.91211	2.221000	0.72209	0.561000	0.74099	CCT		0.353	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			5	36	0	0	0	1	0	5	36					A	74325149	G	A	74325149	3	1	359	1	0	0	0	0	1	0	0	0	14420	1203	42	2	503	2	SLC17A5	6	74325149	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	32178603	74325149	96789918	30	33745											
ROS1	6098	broad.mit.edu	37	chr6	117706989	117706989	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaaacgtcgcctttcgtgtCactgtagtagaggctgttgt	11	8	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:117706989C>G	ENST00000368508.3	-	15	2359	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D716H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	721					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)		CCTTTCGTGTCACTGTAGTAG	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(2161-2163)Gac>Cac		c-ros oncogene 1 , receptor tyrosine kinase							132	118	123					6																	117706989		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117706989C>G	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.2161G>C	6.37:g.117706989C>G	ENSP00000357494:p.Asp721His					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D716H	p.D721H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	15	2359	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	721					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2161G>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300630	0.40694	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.93859	-3.3;-3.3	5.37	3.57	0.40892	.	0.167260	0.42548	D	0.000684	D	0.87341	0.6153	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	D	0.87366	0.2347	10	0.45353	T	0.12	.	6.8699	0.24115	0.0:0.677:0.0:0.323	.	721	P08922	ROS1_HUMAN	H	721;716	ENSP00000357494:D721H;ENSP00000357493:D716H	ENSP00000357493:D716H	D	-	1	0	ROS1	117813682	1.000000	0.71417	0.809000	0.32408	0.419000	0.31324	2.841000	0.48223	1.518000	0.48934	-0.136000	0.14681	GAC		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	54	0	0	0	1	0	4	54					G	117706989	C	G	117706989	3	3	359	1	0	0	0	0	1	0	0	0	13531	826	29	4	4998	4	ROS1	6	117706989	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	43381840	117706989	53408078	31	33746											
ZDHHC14	79683	broad.mit.edu	37	chr6	158066844	158066844	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggattccacacctacttgatCagctccaaccagacaacaaa	5	14	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:158066844C>T	ENST00000359775.5	+	6	1717	c.828C>T	c.(826-828)atC>atT	p.I276I	ZDHHC14_ENST00000414563.2_Silent_p.I276I|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	276					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTACTTGATCAGCTCCAACC	0.527																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(826-828)atC>atT		zinc finger, DHHC-type containing 14							165	124	138					6																	158066844		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158066844C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.828C>T	6.37:g.158066844C>T						ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.I276I	p.I276I			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	6	1717	+		Breast(66;0.00586)|Ovarian(120;0.123)	276					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.828C>T	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734075	0.30684	.	.	ENSG00000175048	ENST00000340347	.	.	.	5.37	4.5	0.54988	.	.	.	.	.	T	0.61627	0.2362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62459	-0.6850	4	.	.	.	-28.4663	14.3464	0.66668	0.1496:0.8504:0.0:0.0	.	.	.	.	L	101	.	.	S	+	2	0	ZDHHC14	157986832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.185000	0.58330	2.043000	0.60533	0.459000	0.35465	TCA		0.527	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		6	24	0	0	0	1	0	6	24					T	158066844	C	T	158066844	2	4	359	1	0	0	0	0	0	0	0	1	17601	816	29	2		2	ZDHHC14	6	158066844	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	40359855	158066844	13048223	32	33747											
DNAH11	8701	broad.mit.edu	37	chr7	21640731	21640731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctttcaaagtgagctTgttaaccataattaagaaat	7	6	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:21640731T>C	ENST00000409508.3	+	17	3390	c.3359T>C	c.(3358-3360)tTg>tCg	p.L1120S	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1120S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1120	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGTGAGCTTGTTAACCATA	0.353									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3358-3360)tTg>tCg		dynein, axonemal, heavy chain 11							125	118	120					7																	21640731		1863	4104	5967	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640731T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3359T>C	7.37:g.21640731T>C	ENSP00000475939:p.Leu1120Ser					DNAH11_ENST00000409508.3_Missense_Mutation_p.L1120S	p.L1120S			Q96DT5	DYH11_HUMAN			17	3390	+			1120			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3359T>C		.	.	.	.	.	.	.	.	.	.	T	21.4	4.137856	0.77775	.	.	ENSG00000105877	ENST00000328843	T	0.36878	1.23	5.56	5.56	0.83823	.	0.327214	0.28307	N	0.015836	T	0.53916	0.1826	.	.	.	0.54753	D	0.999982	D	0.56035	0.974	P	0.55785	0.784	T	0.59059	-0.7525	9	0.87932	D	0	.	15.3768	0.74610	0.0:0.0:0.0:1.0	.	1120	Q96DT5	DYH11_HUMAN	S	1120	ENSP00000330671:L1120S	ENSP00000330671:L1120S	L	+	2	0	DNAH11	21607256	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.483000	0.81158	2.127000	0.65507	0.533000	0.62120	TTG		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		13	36	0	0	0	1	0	13	36					C	21640731	T	C	21640731	3	2	359	1	0	0	0	0	1	0	0	0	4599	1821	63	3	3425	3	DNAH11	7	21640731	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		21640731	137497932	33	33748											
AUTS2	26053	broad.mit.edu	37	chr7	70227916	70227916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcagggccgattgTccccaagatatcgggtctag	13	11	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:70227916T>C	ENST00000342771.4	+	7	1124	c.803T>C	c.(802-804)gTc>gCc	p.V268A	AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	268										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)		GGGCCGATTGTCCCCAAGATA	0.537																																						ENST00000342771.4																			0				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						c.(802-804)gTc>gCc		autism susceptibility candidate 2							180	180	180					7																	70227916		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70227916T>C	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.803T>C	7.37:g.70227916T>C	ENSP00000344087:p.Val268Ala					AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A	p.V268A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1124	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	268					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.803T>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.316886	0.60524	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.35421	1.31;1.34	4.94	4.94	0.65067	.	0.122951	0.56097	D	0.000037	T	0.30103	0.0754	N	0.25890	0.77	0.80722	D	1	P;P	0.41673	0.759;0.759	B;B	0.42851	0.4;0.4	T	0.04029	-1.0983	9	.	.	.	-21.9636	14.7442	0.69477	0.0:0.0:0.0:1.0	.	268;268	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	A	268	ENSP00000385263:V268A;ENSP00000344087:V268A	.	V	+	2	0	AUTS2	69865852	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.220000	0.65267	2.069000	0.61940	0.455000	0.32223	GTC		0.537	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			18	282	0	0	0	1	0	18	282					C	70227916	T	C	70227916	3	2	359	1	0	0	0	0	1	0	0	0	1225	1667	58	3	974	3	AUTS2	7	70227916	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	48587185	70227916	88910747	34	33749											
OR6V1	346517	broad.mit.edu	37	chr7	142749777	142749777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccttcctcatcctgAcagacatggcccttgatcgc	6	18	1	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:142749777A>G	ENST00000418316.1	+	1	361	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	114						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(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCTCATCCTGACAGACATGGC	0.577																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(340-342)Aca>Gca		olfactory receptor, family 6, subfamily V, member 1							120	125	123					7																	142749777		2162	4284	6446	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749777A>G		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.340A>G	7.37:g.142749777A>G	ENSP00000396085:p.Thr114Ala						p.T114A	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	361	+	Melanoma(164;0.059)		114					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.340A>G	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	A	0.764	-0.768180	0.02974	.	.	ENSG00000225781	ENST00000418316	T	0.00958	5.5	4.41	-6.79	0.01715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	N	0.02213	-0.635	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.43343	-0.9397	9	0.02654	T	1	.	5.2026	0.15273	0.2435:0.0:0.2715:0.485	.	114	Q8N148	OR6V1_HUMAN	A	114	ENSP00000396085:T114A	ENSP00000396085:T114A	T	+	1	0	OR6V1	142459899	0.001000	0.12720	0.001000	0.08648	0.984000	0.73092	0.261000	0.18442	-1.695000	0.01423	-0.177000	0.13119	ACA		0.577	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			5	165	0	0	0	1	0	5	165					G	142749777	A	G	142749777	3	3	359	1	0	0	0	0	1	0	0	0	11211	275	10	3	342	3	OR6V1	7	142749777	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	72521861	142749777	16388886	35	33750											
ESRP1	54845	broad.mit.edu	37	chr8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtaggccaacaggggacGcttttgtcctctttgcctgt	12	10	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr8:95680362G>A	ENST00000433389.2	+	10	1307	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	373	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						AACAGGGGACGCTTTTGTCCT	0.483																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1117-1119)Gct>Act		epithelial splicing regulatory protein 1							107	108	107					8																	95680362		1955	4151	6106	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680362G>A	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.1117G>A	8.37:g.95680362G>A	ENSP00000405738:p.Ala373Thr					ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T	p.A373T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			10	1307	+			373			RRM 2.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1117G>A	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.530113|5.530113	0.96446|0.96446	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.29397|.	1.57;1.57;1.57;2.49;1.57|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88753|0.88753	0.6522|0.6522	H|H	0.96777|0.96777	3.88|3.88	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;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.92142|0.92142	0.5721|0.5721	10|5	0.87932|.	D|.	0|.	-10.4049|-10.4049	19.5733|19.5733	0.95430|0.95430	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373;373;373;373;373;373|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|H	373;373;373;373;232|238	ENSP00000407349:A373T;ENSP00000405738:A373T;ENSP00000351168:A373T;ENSP00000402766:A373T;ENSP00000429125:A232T|.	ENSP00000351168:A373T|.	A|R	+|+	1|2	0|0	ESRP1|ESRP1	95749538|95749538	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.901000|0.901000	0.52897|0.52897	9.869000|9.869000	0.99810|0.99810	2.618000|2.618000	0.88619|0.88619	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.483	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		7	90	0	0	0	1	0	7	90					A	95680362	G	A	95680362	3	1	359	1	0	0	0	0	1	0	0	0	5258	1087	38	1	1155	1	ESRP1	8	95680362	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		95680362	50683660	36	33751											
ELAVL2	1993	broad.mit.edu	37	chr9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcttctgcctcaattcGcttgtcaaatcgaataaacc	5	12	4	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:23701564G>A	ENST00000397312.2	-	5	800	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	176	RRM 2. {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)	p.R176*(1)		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)		GCCTCAATTCGCTTGTCAAAT	0.443																																						ENST00000397312.2																			1	Substitution - Nonsense(1)	p.R176*(1)	large_intestine(1)	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						c.(526-528)Cga>Tga		ELAV like neuron-specific RNA binding protein 2							185	187	187					9																	23701564		2203	4300	6503	SO:0001587	stop_gained	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701564G>A	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.526C>T	9.37:g.23701564G>A	ENSP00000380479:p.Arg176*					ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*	p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	800	-			176			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Nonsense_Mutation	SNP	ENST00000397312.2	37	c.526C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.640353	0.98406	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	.	.	.	5.92	5.92	0.95590	.	0.051555	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0858	0.72151	0.0:0.0:0.8583:0.1417	.	.	.	.	X	176;176;176;176;176;204;41;176	.	ENSP00000223951:R176X	R	-	1	2	ELAVL2	23691564	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.053000	0.41326	2.812000	0.96745	0.563000	0.77884	CGA		0.443	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		10	127	0	0	0	1	0	10	127					A	23701564	G	A	23701564	4	1	359	1	0	0	0	0	0	1	0	0	5050	1095	38	1	565	1	ELAVL2	9	23701564	Nonsense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		23701564	117511867	37	33752											
LCN6	158062	broad.mit.edu	37	chr9	139640326	139640326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacccatccggagtttcGctttatcaggtccatgacac	7	13	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:139640326G>A	ENST00000341206.4	-	3	315	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LCN10_ENST00000527229.1_5'Flank|LCN6_ENST00000476567.1_Nonsense_Mutation_p.R6*|LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000480584.1_5'Flank|LCN10_ENST00000497771.1_5'Flank|LCN6_ENST00000435202.1_Nonsense_Mutation_p.R81*|LCN10_ENST00000474369.1_5'Flank	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	91					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CCGGAGTTTCGCTTTATCAGG	0.632																																					Melanoma(172;919 2704 37090 48131)	ENST00000435202.1																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(241-243)Cga>Tga		lipocalin 6							169	150	156					9																	139640326		2203	4300	6503	SO:0001587	stop_gained	158062				single fertilization	extracellular region	binding	g.chr9:139640326G>A	AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"Lipocalins"	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.271C>T	9.37:g.139640326G>A	ENSP00000339621:p.Arg91*					LCN6_ENST00000476567.1_Nonsense_Mutation_p.R6*|LCN6_ENST00000341206.4_Nonsense_Mutation_p.R91*	p.R81*			P62502	LCN6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)	3	240	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	91					B0QZ80|Q71SF6	Nonsense_Mutation	SNP	ENST00000341206.4	37	c.241C>T	CCDS7005.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630084	0.67015	.	.	ENSG00000204003	ENST00000341206	.	.	.	4.16	2.27	0.28462	.	0.462257	0.16012	N	0.233763	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-10.4693	5.7661	0.18227	0.1048:0.0:0.7041:0.191	.	.	.	.	X	91	.	ENSP00000339621:R91X	R	-	1	2	LCN6	138760147	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.340000	0.19892	0.476000	0.27440	-0.841000	0.03054	CGA		0.632	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055107.3	NM_198946		5	205	0	0	0	1	0	5	205					A	139640326	G	A	139640326	4	1	359	1	0	0	0	0	0	1	0	0	8685	1095	38	1	232	1	LCN6	9	139640326	Nonsense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	115938762	139640326	1573105	38	33753											
EGR2	1959	broad.mit.edu	37	chr10	64573175	64573175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctctcatcactccggGcaaactttcggccacagtag	8	15	2	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:64573175G>A	ENST00000242480.3	-	2	1548	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	EGR2_ENST00000411732.1_Missense_Mutation_p.A358V|EGR2_ENST00000439032.1_Missense_Mutation_p.A408V|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	408					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCACTCCGGGCAAACTTTCG	0.602																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1222-1224)gCc>gTc		early growth response 2							142	132	135					10																	64573175		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573175G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1223C>T	10.37:g.64573175G>A	ENSP00000242480:p.Ala408Val					EGR2_ENST00000411732.1_Missense_Mutation_p.A358V|EGR2_ENST00000439032.1_Missense_Mutation_p.A408V	p.A408V	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1548	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		408					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.1223C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030176	0.75504	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.04156	3.69;3.69;3.69	4.85	3.95	0.45737	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	0.05364	0.0142	L	0.33710	1.025	0.80722	D	1	B;B	0.18461	0.028;0.014	B;B	0.20577	0.03;0.021	T	0.28870	-1.0030	10	0.87932	D	0	-21.3372	12.3133	0.54940	0.0837:0.0:0.9163:0.0	.	358;408	P11161-2;P11161	.;EGR2_HUMAN	V	408;408;358	ENSP00000242480:A408V;ENSP00000402040:A408V;ENSP00000387634:A358V	ENSP00000242480:A408V	A	-	2	0	EGR2	64243181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	1.266000	0.44231	0.655000	0.94253	GCC		0.602	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		5	184	0	0	0	1	0	5	184					A	64573175	G	A	64573175	3	1	359	1	0	0	0	0	1	0	0	0	4972	1203	42	2	211	2	EGR2	10	64573175	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		64573175	70961572	39	33754											
FBXW4	6468	broad.mit.edu	37	chr10	103433381	103433381	+	Frame_Shift_Del	DEL	C	C	-													gtaggccaggatgaaattagCctgggatatgtacagagaat							TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:103433381delC	ENST00000331272.7	-	3	1024	c.406delG	c.(406-408)gctfs	p.A136fs		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	136					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)		ATGAAATTAGCCTGGGATATG	0.458																																						ENST00000331272.7																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15						c.(406-408)ctfs		F-box and WD repeat domain containing 4							86	88	87					10																	103433381		2203	4300	6503	SO:0001589	frameshift_variant	6468				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		g.chr10:103433381delC	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.406delG	10.37:g.103433381delC	ENSP00000359149:p.Ala136fs						p.A136fs	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)	3	1024	-		Colorectal(252;0.123)	136					Q5SVS1|Q96IM6	Frame_Shift_Del	DEL	ENST00000331272.7	37	c.406delG	CCDS31271.1																																																																																				0.458	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049979.2	NM_022039		10	80						10	80	---	---	---	---	-	103433381	C	-	103433381	7	5	359	1	0	1	0	1	0	0	0	0	5767	739	26	0	860	0	FBXW4	10	103433381	Frame_Shift_Del	DEL	C	TCGA-P5-A5EZ-01A-11D-A27K-08	38860206	103433381	32101366	40	33755											
KNDC1	85442	broad.mit.edu	37	chr10	135024204	135024204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcacttcctcctcgAccgcatcaacagcacgctga	6	18	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:135024204A>G	ENST00000304613.3	+	21	3905	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1295	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTCCTCCTCGACCGCATCAAC	0.627																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3883-3885)gAc>gGc		kinase non-catalytic C-lobe domain (KIND) containing 1							259	203	222					10																	135024204		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135024204A>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3884A>G	10.37:g.135024204A>G	ENSP00000304437:p.Asp1295Gly					KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G	p.D1295G			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	21	3905	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1295			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3884A>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987788	0.53934	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.50277	0.75;0.75	3.77	3.77	0.43336	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.125321	0.50627	U	0.000108	T	0.48624	0.1510	L	0.60455	1.87	0.54753	D	0.999989	P	0.43578	0.811	P	0.45660	0.489	T	0.52268	-0.8598	10	0.56958	D	0.05	-30.352	10.7928	0.46443	1.0:0.0:0.0:0.0	.	1295	Q76NI1	VKIND_HUMAN	G	1295;1297	ENSP00000304437:D1295G;ENSP00000357561:D1297G	ENSP00000304437:D1295G	D	+	2	0	KNDC1	134874194	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	6.576000	0.74023	1.513000	0.48852	0.165000	0.16767	GAC		0.627	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		9	165	0	0	0	1	0	9	165					G	135024204	A	G	135024204	3	3	359	1	0	0	0	0	1	0	0	0	8426	275	10	3	3966	3	KNDC1	10	135024204	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	31590823	135024204	510543	41	33756											
ST5	6764	broad.mit.edu	37	chr11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacctgctctgggacttgCggtgaccacgcatgtccttc	10	13	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				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)		CTGGGACTTGCGGTGACCACG	0.577																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1324-1326)cGc>cAc		suppression of tumorigenicity 5							293	286	288					11																	8751512		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751512C>T	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.1325G>A	11.37:g.8751512C>T	ENSP00000433528:p.Arg442His					ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R442H|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R442H	p.R442H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1710	-			442			Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1325G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269717	0.40095	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.05855	3.38;3.38;3.38	6.11	5.2	0.72013	.	0.318346	0.37053	N	0.002271	T	0.06096	0.0158	L	0.29908	0.895	0.35051	D	0.760619	B	0.32573	0.376	B	0.23275	0.045	T	0.20107	-1.0285	10	0.66056	D	0.02	-9.1709	15.6375	0.76966	0.0:0.9344:0.0:0.0656	.	442	P78524	ST5_HUMAN	H	442	ENSP00000433528:R442H;ENSP00000319678:R442H;ENSP00000350294:R442H	ENSP00000319678:R442H	R	-	2	0	ST5	8708088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.831000	0.48144	1.598000	0.50083	-0.150000	0.13652	CGC		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		5	577	0	0	0	1	0	5	577					T	8751512	C	T	8751512	3	4	359	1	0	0	0	0	1	0	0	0	15219	768	27	1	2160	1	ST5	11	8751512	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		8751512	126255004	42	33757											
TTC17	55761	broad.mit.edu	37	chr11	43515339	43515339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaagaatttgaaaaagCactggtgtggtatgaatcca	11	5	0	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:43515339C>T	ENST00000039989.4	+	24	3325	c.3311C>T	c.(3310-3312)gCa>gTa	p.A1104V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1104					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						TTTGAAAAAGCACTGGTGTGG	0.463																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(3310-3312)gCa>gTa		tetratricopeptide repeat domain 17							181	174	177					11																	43515339		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43515339C>T	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.3311C>T	11.37:g.43515339C>T	ENSP00000039989:p.Ala1104Val						p.A1104V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			24	3325	+			1104					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.3311C>T	CCDS31466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.557094|2.557094	0.45590|0.45590	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000039989|ENST00000418561	D|.	0.94613|.	-3.47|.	5.72|5.72	4.8|4.8	0.61643|0.61643	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71221|0.71221	0.3314|0.3314	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.70824|0.70824	-0.4767|-0.4767	10|5	0.87932|.	D|.	0|.	-11.7453|-11.7453	14.4125|14.4125	0.67124|0.67124	0.1479:0.8521:0.0:0.0|0.1479:0.8521:0.0:0.0	.|.	1104|.	Q96AE7|.	TTC17_HUMAN|.	V|Y	1104|135	ENSP00000039989:A1104V|.	ENSP00000039989:A1104V|.	A|H	+|+	2|1	0|0	TTC17|TTC17	43471915|43471915	1.000000|1.000000	0.71417|0.71417	0.086000|0.086000	0.20670|0.20670	0.005000|0.005000	0.04900|0.04900	7.487000|7.487000	0.81328|0.81328	1.388000|1.388000	0.46506|0.46506	-0.181000|-0.181000	0.13052|0.13052	GCA|CAC		0.463	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		62	172	0	0	0	1	0	62	172					T	43515339	C	T	43515339	3	4	359	1	0	0	0	0	1	0	0	0	16681	710	25	2	3405	2	TTC17	11	43515339	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	34763827	43515339	91491177	43	33758											
OR9G1	390174	broad.mit.edu	37	chr11	56468248	56468248	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgtggccatctccaagcccCtgctttatgcccaggccatg	9	16	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:56468248C>G	ENST00000312153.1	+	1	385	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	129						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)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTCCAAGCCCCTGCTTTATGC	0.512																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(385-387)Ctg>Gtg		olfactory receptor, family 9, subfamily G, member 1							172	158	163					11																	56468248		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468248C>G	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.385C>G	11.37:g.56468248C>G	ENSP00000309012:p.Leu129Val						p.L129V	NM_001005213.1	NP_001005213.1					1	385	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.385C>G	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447620	0.63178	.	.	ENSG00000174914	ENST00000312153	T	0.01484	4.84	4.54	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	D	0.000761	T	0.14270	0.0345	H	0.95950	3.745	0.35071	D	0.762468	D	0.76494	0.999	D	0.87578	0.998	T	0.14811	-1.0459	10	0.87932	D	0	-13.9629	8.9838	0.35980	0.1476:0.7729:0.0:0.0795	.	129	Q8NH87	OR9G1_HUMAN	V	129	ENSP00000309012:L129V	ENSP00000309012:L129V	L	+	1	2	OR9G1	56224824	0.000000	0.05858	0.997000	0.53966	0.952000	0.60782	-0.185000	0.09684	0.596000	0.29794	0.585000	0.79938	CTG		0.512	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		11	184	0	0	0	1	0	11	184					G	56468248	C	G	56468248	3	3	359	1	0	0	0	0	1	0	0	0	11250	680	24	4	387	4	OR9G1	11	56468248	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	12952909	56468248	78538268	44	33759											
TTC12	54970	broad.mit.edu	37	chr11	113211422	113211422	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attcagaatgcacaatggatTtagtatcatcagtgacaacg	8	7	3	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:113211422T>A	ENST00000529221.1	+	11	968	c.863T>A	c.(862-864)tTt>tAt	p.F288Y	TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000393020.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	288										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CACAATGGATTTAGTATCATC	0.438																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(862-864)tTt>tAt		tetratricopeptide repeat domain 12							134	120	125					11																	113211422		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113211422T>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.863T>A	11.37:g.113211422T>A	ENSP00000433757:p.Phe288Tyr					TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000529221.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y	p.F288Y			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	11	1268	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	288					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.863T>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300684	0.81136	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000483239	T;T;T;T;T	0.68331	1.76;1.67;-0.32;1.63;1.73	5.22	5.22	0.72569	Armadillo-type fold (1);	0.162585	0.56097	D	0.000034	T	0.78027	0.4219	M	0.77103	2.36	0.41691	D	0.989346	D;D	0.64830	0.994;0.994	P;P	0.58130	0.833;0.833	T	0.81493	-0.0908	10	0.66056	D	0.02	-24.524	12.9047	0.58145	0.0:0.0:0.0:1.0	.	288;288	A8K8G6;Q9H892	.;TTC12_HUMAN	Y	288;288;244;288;294	ENSP00000433757:F288Y;ENSP00000315160:F288Y;ENSP00000435308:F244Y;ENSP00000376743:F288Y;ENSP00000419652:F294Y	ENSP00000315160:F288Y	F	+	2	0	TTC12	112716632	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.579000	0.67457	2.096000	0.63516	0.528000	0.53228	TTT		0.438	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		7	63	0	0	0	1	0	7	63					A	113211422	T	A	113211422	3	1	359	1	0	0	0	0	1	0	0	0	16676	1841	64	5	901	5	TTC12	11	113211422	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	56743174	113211422	21795094	45	33760											
WNK1	65125	broad.mit.edu	37	chr12	993858	993859	+	Frame_Shift_Del	DEL	CT	CT	-													cctggaatgaacttgtctcaCtctgcatcatcccttagtct							TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:993858_993859delCT	ENST00000315939.6	+	19	4531_4532	c.3888_3889delCT	c.(3886-3891)cactctfs	p.S1297fs	WNK1_ENST00000530271.2_Frame_Shift_Del_p.S1795fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.S890fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.S1050fs|WNK1_ENST00000537687.1_Frame_Shift_Del_p.S1557fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1297					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)			ACTTGTCTCACTCTGCATCATC	0.431																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				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						c.(4666-4671)cactfs		WNK lysine deficient protein kinase 1																																				SO:0001589	frameshift_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993858_993859delCT	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.3888_3889delCT	12.37:g.993860_993861delCT	ENSP00000313059:p.Ser1297fs					WNK1_ENST00000535572.1_Frame_Shift_Del_p.HS1049fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.HS1794fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.HS1296fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.HS889fs	p.HS1556fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	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)		19	5311_5312	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1296					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	c.4668_4669delCT	CCDS8506.1																																																																																				0.431	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		11	151						11	151	---	---	---	---	-	993859	CT	-	993858	7	5	359	1	0	1	0	1	0	0	0	0	17374	564	20	0	5464	0	WNK1	12	993858	Frame_Shift_Del	DEL	CT	TCGA-P5-A5EZ-01A-11D-A27K-08		993858	132858037	46	33761											
NCAPD2	9918	broad.mit.edu	37	chr12	6635636	6635636	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgtccacccagacccactCtggatcccattcaaagaggt	7	14	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:6635636C>G	ENST00000315579.5	+	21	3388	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Silent_p.L818L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	863					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						CAGACCCACTCTGGATCCCAT	0.552																																						ENST00000315579.5																			0				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						c.(2587-2589)ctC>ctG		non-SMC condensin I complex, subunit D2							58	60	59					12																	6635636		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6635636C>G	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.2589C>G	12.37:g.6635636C>G						NCAPD2_ENST00000545962.1_Silent_p.L818L|NCAPD2_ENST00000542492.1_3'UTR	p.L863L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			21	3388	+			863					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.2589C>G	CCDS8548.1																																																																																				0.552	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		9	121	0	0	0	1	0	9	121					G	6635636	C	G	6635636	2	3	359	1	0	0	0	0	0	0	0	1	10205	900	32	4		4	NCAPD2	12	6635636	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	5641778	6635636	127216259	47	33762											
PLCZ1	89869	broad.mit.edu	37	chr12	18836192	18836192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttatctgacgtaccaaacaTaaacaaacagtgaagcaggc	8	9	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:18836192T>C	ENST00000538330.1	-	11	1535	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y84C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y408C|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y410C|PLCZ1_ENST00000447925.2_Missense_Mutation_p.Y601C|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y603C					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GTACCAAACATAAACAAACAG	0.343																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1801-1803)tAt>tGt		phospholipase C, zeta 1							117	105	109					12																	18836192		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18836192T>C	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1154A>G	12.37:g.18836192T>C	ENSP00000445880:p.Tyr385Cys					PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y410C|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.Y385C|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y603C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y408C|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y84C	p.Y601C	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			15	2071	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		603						Missense_Mutation	SNP	ENST00000538330.1	37	c.1802A>G		.	.	.	.	.	.	.	.	.	.	T	16.04	3.009582	0.54361	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.34	5.34	0.76211	C2 calcium/lipid-binding domain, CaLB (1);	0.142130	0.49916	D	0.000136	T	0.28566	0.0707	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66196	0.862;0.942	T	0.00945	-1.1505	10	0.66056	D	0.02	.	11.6338	0.51192	0.0:0.0:0.0:1.0	.	603;385	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	C	84;385;603;601;408;410	ENSP00000438826:Y84C;ENSP00000445880:Y385C;ENSP00000266505:Y603C;ENSP00000402358:Y601C;ENSP00000400504:Y408C;ENSP00000445026:Y410C	ENSP00000266505:Y603C	Y	-	2	0	PLCZ1	18727459	0.998000	0.40836	0.935000	0.37517	0.483000	0.33249	5.879000	0.69690	2.240000	0.73641	0.533000	0.62120	TAT		0.343	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		3	61	0	0	0	1	0	3	61					C	18836192	T	C	18836192	3	2	359	1	0	0	0	0	1	0	0	0	12044	1406	49	3	22	3	PLCZ1	12	18836192	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	12200556	18836192	115015703	48	33763											
RCBTB1	55213	broad.mit.edu	37	chr13	50134077	50134077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcagctgccagagccaTtgaatgatgtgagccacaag	10	11	1	4	rs147650879	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:50134077T>C	ENST00000378302.2	-	5	681	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	141					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCAGAGCCATTGAATGATGT	0.413																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(421-423)Atg>Gtg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1		T	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	173	166	168		421	3.8	0.9	13	dbSNP_134	168	4,8596	3.7+/-12.6	0,4,4296	yes	missense	RCBTB1	NM_018191.3	21	0,5,6498	CC,CT,TT		0.0465,0.0227,0.0384	benign	141/532	50134077	5,13001	2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50134077T>C	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.421A>G	13.37:g.50134077T>C	ENSP00000367552:p.Met141Val					RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V	p.M141V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	5	681	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	141					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.421A>G	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274660	0.23307	2.27E-4	4.65E-4	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.83250	-1.7;-1.7;-1.7	5.08	3.85	0.44370	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.073009	0.85682	D	0.000000	T	0.58495	0.2126	N	0.01631	-0.79	0.45183	D	0.998194	B	0.06786	0.001	B	0.12837	0.008	T	0.48864	-0.8997	10	0.26408	T	0.33	-16.5273	9.5973	0.39582	0.2793:0.0:0.0:0.7207	.	141	Q8NDN9	RCBT1_HUMAN	V	141	ENSP00000258646:M141V;ENSP00000367552:M141V;ENSP00000443293:M141V	ENSP00000258646:M141V	M	-	1	0	RCBTB1	49032078	0.983000	0.35010	0.931000	0.37212	0.993000	0.82548	1.924000	0.40065	0.724000	0.32296	0.459000	0.35465	ATG		0.413	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		53	126	0	0	0	1	0	53	126					C	50134077	T	C	50134077	3	2	359	1	0	0	0	0	1	0	0	0	13171	1493	52	3	1210	3	RCBTB1	13	50134077	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		50134077	65035801	49	33764											
MYCBP2	23077	broad.mit.edu	37	chr13	77835374	77835374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcttctgcaactaaaAgggcgtgagagccatcgtgt	10	11	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:77835374A>G	ENST00000544440.2	-	12	1687	c.1670T>C	c.(1669-1671)cTt>cCt	p.L557P	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557P|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L595P					MYC binding protein 2, E3 ubiquitin protein ligase									p.L557H(2)|p.L595H(1)		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)		TGCAACTAAAAGGGCGTGAGA	0.403																																						ENST00000407578.2																			3	Substitution - Missense(3)	p.L557H(2)|p.L595H(1)	kidney(3)	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						c.(1783-1785)cTt>cCt		MYC binding protein 2, E3 ubiquitin protein ligase							133	121	125					13																	77835374		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835374A>G	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.1670T>C	13.37:g.77835374A>G	ENSP00000444596:p.Leu557Pro					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557P|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557P	p.L595P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	12	2050	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	557						Missense_Mutation	SNP	ENST00000544440.2	37	c.1784T>C		.	.	.	.	.	.	.	.	.	.	A	25.2	4.616757	0.87359	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.82803	-1.65;-1.65;-1.65	5.62	5.62	0.85841	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000004	D	0.89100	0.6619	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.90145	0.4216	10	0.87932	D	0	.	15.8183	0.78621	1.0:0.0:0.0:0.0	.	557	O75592	MYCB2_HUMAN	P	557;595;557	ENSP00000349892:L557P;ENSP00000384288:L595P;ENSP00000444596:L557P	ENSP00000349892:L557P	L	-	2	0	MYCBP2	76733375	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.228000	0.95250	2.143000	0.66587	0.477000	0.44152	CTT		0.403	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		3	70	0	0	0	1	0	3	70					G	77835374	A	G	77835374	3	3	359	1	0	0	0	0	1	0	0	0	10018	72	3	3	12540	3	MYCBP2	13	77835374	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	27701297	77835374	37334504	50	33765											
TEP1	7011	broad.mit.edu	37	chr14	20854643	20854643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcagtgacgccccagcGgaggtcgattccgtgaaggc	13	14	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:20854643G>A	ENST00000262715.5	-	19	2864	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	TEP1_ENST00000556935.1_Missense_Mutation_p.R834C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	942					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)		ACGCCCCAGCGGAGGTCGATT	0.657																																						ENST00000262715.5																			0				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						c.(2824-2826)Cgc>Tgc		telomerase-associated protein 1							44	39	41					14																	20854643		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854643G>A		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.2824C>T	14.37:g.20854643G>A	ENSP00000262715:p.Arg942Cys					TEP1_ENST00000556935.1_Missense_Mutation_p.R834C	p.R942C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	19	2864	-	all_cancers(95;0.00123)	all_lung(585;0.235)	942					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2824C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733381	0.69189	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.19105	2.17;2.17	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.917;1.0	T	0.69844	-0.5035	10	0.87932	D	0	-11.1453	12.6147	0.56569	0.0:0.0:0.8341:0.1659	.	834;292;942	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	C	942;942;834	ENSP00000262715:R942C;ENSP00000452574:R834C	ENSP00000262715:R942C	R	-	1	0	TEP1	19924483	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.653000	0.67967	2.423000	0.82170	0.655000	0.94253	CGC		0.657	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	43	0	0	0	1	0	7	43					A	20854643	G	A	20854643	3	1	359	1	0	0	0	0	1	0	0	0	15756	1116	39	1	5207	1	TEP1	14	20854643	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		20854643	86494897	51	33766											
PRMT5	10419	broad.mit.edu	37	chr14	23395475	23395475	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagcgatcaatgacatgaTtagatgggaggtcagcccca	12	10	2	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:23395475T>C	ENST00000324366.8	-	7	867	c.644A>G	c.(643-645)aAt>aGt	p.N215S	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	215	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AATGACATGATTAGATGGGAG	0.473																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(643-645)aAt>aGt		protein arginine methyltransferase 5							83	87	86					14																	23395475		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395475T>C	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.644A>G	14.37:g.23395475T>C	ENSP00000319169:p.Asn215Ser					PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S	p.N215S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	867	-	all_cancers(95;2.76e-05)		215					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.644A>G	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	9.389	1.074896	0.20227	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616	.	.	.	5.37	2.94	0.34122	.	0.260319	0.44688	N	0.000422	T	0.15262	0.0368	N	0.00960	-1.095	0.35106	D	0.765729	B;B;B;B	0.09022	0.001;0.001;0.002;0.002	B;B;B;B	0.15052	0.0;0.009;0.006;0.012	T	0.13656	-1.0501	9	0.10636	T	0.68	-9.3821	7.5309	0.27683	0.0:0.2422:0.0:0.7578	.	171;154;215;198	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	S	215;198;154;109;171;110;170;177	.	ENSP00000216350:N154S	N	-	2	0	PRMT5	22465315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.870000	0.39529	0.933000	0.37291	0.459000	0.35465	AAT		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			10	91	0	0	0	1	0	10	91					C	23395475	T	C	23395475	3	2	359	1	0	0	0	0	1	0	0	0	12539	1493	52	3	1313	3	PRMT5	14	23395475	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	2540832	23395475	83954065	52	33767											
SERPINA3	12	broad.mit.edu	37	chr14	95085593	95085593	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcaaggttctacttgagcaaGaaaaagtgggtaatggtgcc	12	6	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:95085593G>C	ENST00000467132.1	+	3	1853	c.705G>C	c.(703-705)aaG>aaC	p.K235N	SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	235					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTTGAGCAAGAAAAAGTGGG	0.507																																						ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(778-780)aaG>aaC		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3							153	118	130					14																	95085593		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085593G>C	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	16	protein-coding gene	gene with protein product		107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.705G>C	14.37:g.95085593G>C	ENSP00000450540:p.Lys235Asn					SERPINA3_ENST00000467132.1_Missense_Mutation_p.K235N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N|SERPINA3_ENST00000556388.1_Intron	p.K260N			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	6	1668	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	235					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.780G>C	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547903	0.13312	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	4.66	-0.955	0.10356	Serpin domain (3);	1.387020	0.04680	N	0.412240	T	0.81074	0.4747	L	0.43152	1.355	0.09310	N	1	B;B	0.20780	0.048;0.017	B;B	0.27715	0.082;0.022	T	0.64097	-0.6487	10	0.49607	T	0.09	.	1.7761	0.03022	0.2456:0.2299:0.3942:0.1304	.	235;260	P01011;G3V5I3	AACT_HUMAN;.	N	260;235;235;235;235;17	ENSP00000452367:K260N;ENSP00000376793:K235N;ENSP00000376795:K235N;ENSP00000450540:K235N;ENSP00000451119:K17N	ENSP00000376793:K235N	K	+	3	2	SERPINA3	94155346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.642000	0.02006	-0.051000	0.13334	-1.334000	0.01262	AAG		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		38	38	0	0	0	1	0	38	38					C	95085593	G	C	95085593	3	2	359	1	0	0	0	0	1	0	0	0	14090	933	33	4	711	4	SERPINA3	14	95085593	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	71690118	95085593	12263947	53	33768											
CDH13	1012	broad.mit.edu	37	chr16	83251008	83251009	+	Frame_Shift_Del	DEL	AT	AT	-													gctcactggaaagggagtggAtcaagagcctaaaggaattt							TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr16:83251008_83251009delAT	ENST00000566620.1	+	5	832_833	c.542_543delAT	c.(541-543)gatfs	p.D181fs	CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	181	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGGGAGTGGATCAAGAGCCTA	0.455																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(541-543)gfs		cadherin 13																																				SO:0001589	frameshift_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83251008_83251009delAT	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.542_543delAT	16.37:g.83251008_83251009delAT	ENSP00000454435:p.Asp181fs					CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs	p.D181fs	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	5	832_833	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	181			Cadherin 1.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Frame_Shift_Del	DEL	ENST00000566620.1	37	c.542_543delAT	CCDS58486.1																																																																																				0.455	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		8	125						8	125	---	---	---	---	-	83251009	AT	-	83251008	7	5	359	1	0	1	0	1	0	0	0	0	3099	333	12	0	560	0	CDH13	16	83251008	Frame_Shift_Del	DEL	AT	TCGA-P5-A5EZ-01A-11D-A27K-08		83251008	7103745	54	33769											
TP53	7157	broad.mit.edu	37	chr17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-													ggcaccaccacactatgtcgAaaagtgtttctgtcatccaa							TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:7578213delA	ENST00000269305.4	-	6	825	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs	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	212	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)	CACTATGTCGAAAAGTGTTTC	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		36	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Substitution - Missense(2)	p.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(1)	large_intestine(8)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|stomach(1)|soft_tissue(1)|liver(1)|lung(1)|breast(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	GRCh37	CD011205	TP53	D		c.(634-636)ttfs	Other conserved DNA damage response genes	tumor protein p53							134	120	125					17																	7578213		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578213delA	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.636delT	17.37:g.7578213delA	ENSP00000269305:p.Phe212fs	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)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs	p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	768	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	212		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.636delT	CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	32						45	32	---	---	---	---	-	7578213	A	-	7578213	7	5	359	1	0	1	0	1	0	0	0	0	16378	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	A	TCGA-P5-A5EZ-01A-11D-A27K-08		7578213	73616997	55	33770											
CCR7	1236	broad.mit.edu	37	chr17	38711204	38711204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccaggctgtaggtgacGtcgtaggcgatgttgagttg	17	7	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(925-927)gaC>gaT		chemokine (C-C motif) receptor 7							225	177	193					17																	38711204		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711204G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.927C>T	17.37:g.38711204G>A						CCR7_ENST00000579344.1_Silent_p.D303D	p.D309D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	989	-		Breast(137;0.000496)	309						Silent	SNP	ENST00000246657.2	37	c.927C>T	CCDS11369.1																																																																																				0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			8	89	0	0	0	1	0	8	89					A	38711204	G	A	38711204	2	1	359	1	0	0	0	0	0	0	0	1	2946	1136	40	1		1	CCR7	17	38711204	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	31132991	38711204	42484006	56	33771											
KRT37	8688	broad.mit.edu	37	chr17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaggagcttctgcgtccCgcacttgtccgcctccacca	8	18	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|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)				TTCTGCGTCCCGCACTTGTCC	0.627																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(625-627)Ggg>Agg		keratin 37							79	70	73					17																	39579137		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579137C>T	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.625G>A	17.37:g.39579137C>T	ENSP00000225550:p.Gly209Arg					AC003958.2_ENST00000432258.1_RNA	p.G209R	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	624	-		Breast(137;0.000496)	209			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.625G>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.567558	0.45694	.	.	ENSG00000108417	ENST00000225550	D	0.89123	-2.47	4.78	2.73	0.32206	Filament (1);	0.000000	0.47455	D	0.000228	D	0.94361	0.8187	M	0.91354	3.2	0.40529	D	0.98091	D	0.89917	1.0	D	0.74023	0.982	D	0.93328	0.6698	10	0.87932	D	0	.	8.4609	0.32927	0.1536:0.764:0.0:0.0825	.	209	O76014	KRT37_HUMAN	R	209	ENSP00000225550:G209R	ENSP00000225550:G209R	G	-	1	0	KRT37	36832663	0.324000	0.24652	0.081000	0.20488	0.042000	0.13812	0.979000	0.29500	0.423000	0.26033	0.655000	0.94253	GGG		0.627	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		29	128	0	0	0	1	0	29	128					T	39579137	C	T	39579137	3	4	359	1	0	0	0	0	1	0	0	0	8474	652	23	1	744	1	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	867933	39579137	41616073	57	33772											
TCEB3C	728929	broad.mit.edu	37	chr18	44549186	44549186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggtacggctgatcgggCgtccacccttccagaacggg	15	13	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr18:44549186C>T	ENST00000451265.1	-	1	1348	c.1113G>A	c.(1111-1113)acG>acA	p.T371T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				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)			central_nervous_system(1)|lung(1)|prostate(1)	3						GCTGATCGGGCGTCCACCCTT	0.582																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1111-1113)acG>acA		transcription elongation factor B polypeptide 3C-like							260	221	234					18																	44549186		1740	3470	5210	SO:0001819	synonymous_variant	728929							g.chr18:44549186C>T			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1113G>A	18.37:g.44549186C>T						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.T371T	NM_001100817.1	NP_001094287.1					1	1348	-								Q3MI93	Silent	SNP	ENST00000451265.1	37	c.1113G>A	CCDS42433.1																																																																																				0.582	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		13	1222	0	0	0	1	0	13	1222					T	44549186	C	T	44549186	2	4	359	1	0	0	0	0	0	0	0	1	15680	755	27	1		1	TCEB3C	18	44549186	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		44549186	33528062	58	33773											
TJP3	27134	broad.mit.edu	37	chr19	3730650	3730650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaagcggctgccacggcagGacgtgcagatgaagcctgtg	15	10	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:3730650G>T	ENST00000541714.2	+	5	1021	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	187					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGGCAGGACGTGCAGAT	0.657																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(559-561)Gac>Tac		tight junction protein 3							47	41	43					19																	3730650		2181	4254	6435	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3730650G>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.559G>T	19.37:g.3730650G>T	ENSP00000439278:p.Asp187Tyr					TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y|TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y	p.D187Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1021	+			187					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.559G>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967500	0.53507	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08984	3.03;3.19;3.04;3.13	4.6	4.6	0.57074	PDZ/DHR/GLGF (1);	0.290726	0.31989	N	0.006751	T	0.20577	0.0495	L	0.36672	1.1	0.53688	D	0.999973	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.80764	0.994;0.931;0.98;0.994	T	0.01287	-1.1395	10	0.66056	D	0.02	.	16.3916	0.83542	0.0:0.0:1.0:0.0	.	206;206;187;187	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	Y	187;151;187;206	ENSP00000439278:D187Y;ENSP00000439991:D151Y;ENSP00000371438:D187Y;ENSP00000262968:D206Y	ENSP00000262968:D206Y	D	+	1	0	TJP3	3681650	1.000000	0.71417	0.997000	0.53966	0.330000	0.28571	4.375000	0.59549	2.095000	0.63458	0.491000	0.48974	GAC		0.657	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			6	82	1	0	0.00116845	1	0.00124739	6	82					T	3730650	G	T	3730650	3	4	359	1	0	0	0	0	1	0	0	0	15928	1174	41	4	630	4	TJP3	19	3730650	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		3730650	55398333	59	33774											
MUC16	94025	broad.mit.edu	37	chr19	9075050	9075050	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagagtggtcttctcTgagtatgtaaatctctgagt	10	6	3	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:9075050T>A	ENST00000397910.4	-	3	12599	c.12396A>T	c.(12394-12396)tcA>tcT	p.S4132S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4134	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)				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						TGGTCTTCTCTGAGTATGTAA	0.517																																						ENST00000397910.4																			0				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						c.(12394-12396)tcA>tcT		mucin 16, cell surface associated							130	122	125					19																	9075050		2053	4189	6242	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075050T>A	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.12396A>T	19.37:g.9075050T>A							p.S4132S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12599	-			4134			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12396A>T	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	111	0	0	0	1	0	10	111					A	9075050	T	A	9075050	2	1	359	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9075050	Silent	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	5344400	9075050	50053933	60	33775											
C20orf26	26074	broad.mit.edu	37	chr20	20056252	20056252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagctgcacgttcgcAaagccaggtacagttggagt	11	11	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:20056252A>C	ENST00000245957.5	+	6	635	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		187										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)		GCACGTTCGCAAAGCCAGGTA	0.478																																						ENST00000245957.5																			0				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						c.(559-561)Aaa>Caa		chromosome 20 open reading frame 26							138	128	131					20																	20056252		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20056252A>C																												ENST00000245957.5:c.559A>C	20.37:g.20056252A>C	ENSP00000245957:p.Lys187Gln					C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR	p.K187Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	635	+			187					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.559A>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	7.612	0.674918	0.14841	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000451767;ENST00000472660	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.9	2.12	0.27331	Acyl-CoA N-acyltransferase (2);	0.562859	0.18709	N	0.133368	T	0.25269	0.0614	L	0.54323	1.7	0.09310	N	0.999998	B;B;B;B	0.34290	0.029;0.058;0.447;0.16	B;B;B;B	0.28991	0.022;0.046;0.097;0.055	T	0.11421	-1.0588	10	0.24483	T	0.36	.	4.5972	0.12336	0.648:0.1596:0.1924:0.0	.	187;187;141;187	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	Q	141;187;187;187;187;187;187;83	ENSP00000345553:K141Q;ENSP00000245957:K187Q;ENSP00000366521:K187Q;ENSP00000366518:K187Q;ENSP00000414537:K187Q;ENSP00000420498:K83Q	ENSP00000245957:K187Q	K	+	1	0	C20orf26	20004252	0.087000	0.21565	0.095000	0.20976	0.161000	0.22273	1.417000	0.34770	0.440000	0.26502	0.528000	0.53228	AAA		0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			7	104	0	0	0	1	0	7	104					C	20056252	A	C	20056252	3	2	359	1	0	0	0	0	1	0	0	0	2106	131	5	5	577	5	C20orf26	20	20056252	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		20056252	42969268	61	33776											
HCK	3055	broad.mit.edu	37	chr20	30659555	30659555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccacactgtcctgtgtaCgtgccggatcccacatccac	8	17	0	0	rs112610391	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:30659555C>T	ENST00000520553.1	+	2	336	c.90C>T	c.(88-90)taC>taT	p.Y30Y	HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000534862.1_Silent_p.Y31Y|HCK_ENST00000538448.1_Silent_p.Y30Y	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	51					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)	GTCCTGTGTACGTGCCGGATC	0.582																																						ENST00000534862.1																			0				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						c.(91-93)taC>taT		hemopoietic cell kinase							94	75	81					20																	30659555		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30659555C>T	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.90C>T	20.37:g.30659555C>T						HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000538448.1_Silent_p.Y30Y	p.Y31Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	456	+			51					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.93C>T	CCDS54455.1																																																																																				0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			9	74	0	0	0	1	0	9	74					T	30659555	C	T	30659555	2	4	359	1	0	0	0	0	0	0	0	1	6994	547	19	1		1	HCK	20	30659555	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	10603303	30659555	32365965	62	33777											
HIRA	7290	broad.mit.edu	37	chr22	19365445	19365445	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcactggcagccaccacaggCtctgtgcaaggcttcgaggc	13	14	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:19365445C>G	ENST00000263208.5	-	14	1816	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D	HIRA_ENST00000546308.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D|HIRA_ENST00000541063.1_Missense_Mutation_p.E476D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	520	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACCACAGGCTCTGTGCAAG	0.582																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1558-1560)gaG>gaC		histone cell cycle regulator							88	96	93					22																	19365445		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365445C>G	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1560G>C	22.37:g.19365445C>G	ENSP00000263208:p.Glu520Asp					HIRA_ENST00000541063.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D|HIRA_ENST00000546308.1_Missense_Mutation_p.E476D	p.E520D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			14	1816	-	Colorectal(54;0.0993)		520			Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1560G>C	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923724	0.34002	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.71817	-0.4;-0.6;-0.45;-0.41	5.28	2.09	0.27110	.	0.051755	0.85682	D	0.000000	T	0.46288	0.1385	N	0.11560	0.145	0.80722	D	1	B;B;B	0.24186	0.099;0.004;0.009	B;B;B	0.22753	0.041;0.009;0.005	T	0.16247	-1.0409	10	0.27785	T	0.31	-29.4496	7.8399	0.29393	0.0:0.6009:0.0:0.3991	rs34338566	476;520;520	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	D	520;520;476;29;476	ENSP00000345350:E520D;ENSP00000263208:E520D;ENSP00000446073:E476D;ENSP00000441870:E476D	ENSP00000263208:E520D	E	-	3	2	HIRA	17745445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.734000	0.26101	0.368000	0.24481	0.655000	0.94253	GAG		0.582	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		82	154	0	0	0	1	0	82	154					G	19365445	C	G	19365445	3	3	359	1	0	0	0	0	1	0	0	0	7120	796	28	4	1541	4	HIRA	22	19365445	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		19365445	31939121	63	33778											
LIMK2	3985	broad.mit.edu	37	chr22	31663038	31663038	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgatgtgatgaggagacccaGaaaacttttctgactgaggt	12	7	1	6			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:31663038G>A	ENST00000331728.4	+	9	1224	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LIMK2_ENST00000406516.1_Silent_p.Q292Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	370	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						AGGAGACCCAGAAAACTTTTC	0.473																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1108-1110)caG>caA		LIM domain kinase 2							63	54	57					22																	31663038		2203	4300	6503	SO:0001819	synonymous_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31663038G>A	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.1110G>A	22.37:g.31663038G>A						LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q|LIMK2_ENST00000406516.1_Silent_p.Q292Q	p.Q370Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			9	1224	+			370			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.1110G>A	CCDS13891.1																																																																																				0.473	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	12	0	0	0	1	0	3	12					A	31663038	G	A	31663038	2	1	359	1	0	0	0	0	0	0	0	1	8802	933	33	2		2	LIMK2	22	31663038	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	12297593	31663038	19641528	64	33779											
HRNR	388697	broad.mit.edu	37	chr1	152191766	152191766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctgaactggacccatgtCggacacggctaggagagtgg	15	11	0	2	rs368316243		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:152191766C>T	ENST00000368801.2	-	3	2414	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	780					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)			GGACCCATGTCGGACACGGCT	0.602																																						ENST00000368801.2																			0				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						c.(2338-2340)cGa>cAa		hornerin		C	GLN/ARG	0,4406		0,0,2203	72	76	75		2339	-6.1	0	1		75	2,8598		0,2,4298	no	missense	HRNR	NM_001009931.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	780/2851	152191766	2,13004	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191766C>T	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.2339G>A	1.37:g.152191766C>T	ENSP00000357791:p.Arg780Gln					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R780Q	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2414	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		780					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2339G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.654	0.898922	0.17686	0.0	2.33E-4	ENSG00000197915	ENST00000368801	T	0.04654	3.58	3.06	-6.13	0.02118	.	.	.	.	.	T	0.00695	0.0023	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.47586	-0.9106	9	0.24483	T	0.36	.	5.4697	0.16662	0.0:0.1723:0.4738:0.3539	.	780	Q86YZ3	HORN_HUMAN	Q	780	ENSP00000357791:R780Q	ENSP00000357791:R780Q	R	-	2	0	HRNR	150458390	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.585000	0.05794	-1.585000	0.01634	-1.628000	0.00784	CGA		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		35	79	0	0	0	1	0	35	79					T	152191766	C	T	152191766	3	4	360	1	0	0	0	0	1	0	0	0	7359	884	31	1	6217	1	HRNR	1	152191766	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		152191766	97058855	1	33780											
SEC16B	89866	broad.mit.edu	37	chr1	177936856	177936856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgataaccaccttcgtaataGtcaactccagacacaggctg	7	13	1	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:177936856G>A	ENST00000308284.6	-	2	350	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SEC16B_ENST00000464631.2_Silent_p.D87D|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	87	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTTCGTAATAGTCAACTCCAG	0.517																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(259-261)gaC>gaT		SEC16 homolog B (S. cerevisiae)							74	77	76					1																	177936856		2023	4188	6211	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177936856G>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.261C>T	1.37:g.177936856G>A						SEC16B_ENST00000464631.1_Silent_p.D87D|RP4-798P15.3_ENST00000528461.1_Silent_p.D87D|RP4-798P15.3_ENST00000354921.2_5'UTR	p.D87D	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			2	350	-			87			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.261C>T	CCDS44281.1																																																																																				0.517	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		7	64	0	0	0	1	0	7	64					A	177936856	G	A	177936856	2	1	360	1	0	0	0	0	0	0	0	1	13987	1020	36	2		2	SEC16B	1	177936856	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	25745090	177936856	71313765	2	33781											
NLRP3	114548	broad.mit.edu	37	chr1	247588165	247588165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctctgctctttggctGcagatggaatctggaaccag	15	9	3	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:247588165G>A	ENST00000336119.3	+	3	2166	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	NLRP3_ENST00000366497.2_Missense_Mutation_p.A474T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	474	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCTTTGGCTGCAGATGGAAT	0.582																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1420-1422)Gca>Aca		NLR family, pyrin domain containing 3							27	28	28					1																	247588165		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588165G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1420G>A	1.37:g.247588165G>A	ENSP00000337383:p.Ala474Thr					NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A474T|NLRP3_ENST00000474792.1_3'UTR	p.A474T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2200	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	474			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1420G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966543	0.53507	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.000000	0.52532	D	0.000063	D	0.91958	0.7453	M	0.85197	2.74	0.40143	D	0.976858	D;D;D;D;P	0.89917	0.979;0.998;1.0;0.987;0.866	P;D;D;D;P	0.91635	0.78;0.98;0.999;0.966;0.766	D	0.91980	0.5594	10	0.48119	T	0.1	.	12.2773	0.54744	0.0:0.0:1.0:0.0	.	474;474;474;474;474	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	474	ENSP00000375704:A474T;ENSP00000355453:A474T;ENSP00000337383:A474T;ENSP00000294752:A474T;ENSP00000355452:A474T;ENSP00000375703:A474T	ENSP00000337383:A474T	A	+	1	0	NLRP3	245654788	0.998000	0.40836	0.236000	0.24074	0.087000	0.18053	4.494000	0.60347	2.612000	0.88384	0.655000	0.94253	GCA		0.582	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		11	29	0	0	0	1	0	11	29					A	247588165	G	A	247588165	3	1	360	1	0	0	0	0	1	0	0	0	10478	1319	46	2	1430	2	NLRP3	1	247588165	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	69651309	247588165	1662456	3	33782											
HADHA	3030	broad.mit.edu	37	chr2	26426943	26426943	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcttaccctttgaacactTgttgctgtcctcggtctagc	9	12	1	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:26426943T>A	ENST00000380649.3	-	12	1337	c.1208A>T	c.(1207-1209)cAa>cTa	p.Q403L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	403					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAACACTTGTTGCTGTCC	0.483																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(1207-1209)cAa>cTa		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						350	328	336					2																	26426943		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26426943T>A	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1208A>T	2.37:g.26426943T>A	ENSP00000370023:p.Gln403Leu						p.Q403L	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			12	1337	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		403					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.1208A>T	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328462	0.81690	.	.	ENSG00000084754	ENST00000380649	T	0.76578	-1.03	4.86	4.86	0.63082	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	L	0.49256	1.55	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.58620	0.842;0.842	T	0.79405	-0.1817	10	0.30078	T	0.28	-18.266	13.5831	0.61915	0.0:0.0:0.0:1.0	.	403;403	E9KL44;P40939	.;ECHA_HUMAN	L	403	ENSP00000370023:Q403L	ENSP00000370023:Q403L	Q	-	2	0	HADHA	26280447	1.000000	0.71417	0.971000	0.41717	0.923000	0.55619	8.005000	0.88553	1.940000	0.56252	0.459000	0.35465	CAA		0.483	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		159	313	0	0	0	1	0	159	313					A	26426943	T	A	26426943	3	1	360	1	0	0	0	0	1	0	0	0	6943	1812	63	5	1119	5	HADHA	2	26426943	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08		26426943	216772430	4	33783											
DNAH6	1768	broad.mit.edu	37	chr2	84784902	84784902	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcaaaacactgtgtTatcagttcctaatctcgtgc	6	11	4	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:84784902T>G	ENST00000237449.6	+	10	1654	c.1646T>G	c.(1645-1647)tTa>tGa	p.L549*	DNAH6_ENST00000389394.3_Nonsense_Mutation_p.L549*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.L549*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	549	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(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						AACACTGTGTTATCAGTTCCT	0.343																																						ENST00000389394.3																			0				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						c.(1645-1647)tTa>tGa		dynein, axonemal, heavy chain 6							153	143	147					2																	84784902		2203	4300	6503	SO:0001587	stop_gained	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784902T>G	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.1646T>G	2.37:g.84784902T>G	ENSP00000237449:p.Leu549*					DNAH6_ENST00000398278.2_Nonsense_Mutation_p.L549*|DNAH6_ENST00000237449.6_Nonsense_Mutation_p.L549*	p.L549*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1783	+			549			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	c.1646T>G	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	34	5.382346	0.95967	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	5.22	5.22	0.72569	.	0.000000	0.36740	N	0.002440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0916	0.64995	0.0:0.0:0.0:1.0	.	.	.	.	X	549	.	ENSP00000237449:L549X	L	+	2	0	DNAH6	84638413	1.000000	0.71417	0.994000	0.49952	0.345000	0.29048	5.100000	0.64560	1.969000	0.57287	0.533000	0.62120	TTA		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		42	97	0	0	0	1	0	42	97					G	84784902	T	G	84784902	4	3	360	1	0	0	0	0	0	1	0	0	4605	1764	61	5	1684	5	DNAH6	2	84784902	Nonsense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	58357959	84784902	158414471	5	33784											
USP39	10713	broad.mit.edu	37	chr2	85843529	85843529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgttgtcccgtttgtgCgggtgaagcgggagcgcgag	17	9	1	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:85843529C>T	ENST00000323701.6	+	1	221	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000459775.1_Intron|USP39_ENST00000409766.3_Missense_Mutation_p.R71W|USP39_ENST00000450066.2_Intron	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	71	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCCGTTTGTGCGGGTGAAGCG	0.726																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(211-213)Cgg>Tgg		ubiquitin specific peptidase 39							6	9	8					2																	85843529		2054	4152	6206	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85843529C>T	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.211C>T	2.37:g.85843529C>T	ENSP00000312981:p.Arg71Trp					USP39_ENST00000409766.3_Missense_Mutation_p.R71W|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_Intron	p.R71W	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			1	221	+			71			Arg-rich.		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.211C>T	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752858	0.69648	.	.	ENSG00000168883	ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T	0.19669	2.14;2.41;2.41;2.13	5.1	4.21	0.49690	.	0.328645	0.29830	N	0.011100	T	0.27169	0.0666	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.994;0.994	D;D;D;D	0.76575	0.988;0.919;0.919;0.919	T	0.09707	-1.0662	10	0.72032	D	0.01	-0.6357	10.7499	0.46203	0.1895:0.8105:0.0:0.0	.	71;71;71;71	G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;SNUT2_HUMAN	W	71	ENSP00000386572:R71W;ENSP00000386864:R71W;ENSP00000312981:R71W;ENSP00000386803:R71W	ENSP00000312981:R71W	R	+	1	2	USP39	85697040	0.991000	0.36638	1.000000	0.80357	0.832000	0.47134	-0.095000	0.11077	1.365000	0.46057	0.561000	0.74099	CGG		0.726	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		3	29	0	0	0	1	0	3	29					T	85843529	C	T	85843529	3	4	360	1	0	0	0	0	1	0	0	0	17067	759	27	1	213	1	USP39	2	85843529	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1058627	85843529	157355844	6	33785											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	43	0	0	0	1	0	19	43					T	209113112	C	T	209113112	3	4	360	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	123269583	209113112	34086261	7	33786											
EPHA4	2043	broad.mit.edu	37	chr2	222301821	222301821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccattctccatgtactctGttatgatcattactggttta	6	9	3	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:222301821G>T	ENST00000281821.2	-	12	2137	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATGTACTCTGTTATGATCAT	0.378																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2095-2097)aCa>aAa		EPH receptor A4							106	108	108					2																	222301821		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301821G>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2096C>A	2.37:g.222301821G>T	ENSP00000281821:p.Thr699Lys					EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K	p.T699K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	12	2137	-		Renal(207;0.0183)	699			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2096C>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706135	0.89018	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.03	6.03	0.97812	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	0.84835	0.5560	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86822	0.2005	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	699	P54764	EPHA4_HUMAN	K	699;699;699;648	ENSP00000281821:T699K;ENSP00000386276:T699K;ENSP00000386829:T699K;ENSP00000375923:T648K	ENSP00000281821:T699K	T	-	2	0	EPHA4	222010065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.004000	0.88535	2.854000	0.98071	0.655000	0.94253	ACA		0.378	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			33	53	1	0	3.86903e-22	1	4.00972e-22	33	53					T	222301821	G	T	222301821	3	4	360	1	0	0	0	0	1	0	0	0	5169	1377	48	4	888	4	EPHA4	2	222301821	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	13188709	222301821	20897552	8	33787											
GPR15	2838	broad.mit.edu	37	chr3	98251295	98251295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccattgtgtggccagtcGtatccaggaaattcagaagg	13	8	1	1	rs202120393		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:98251295G>A	ENST00000284311.3	+	1	553	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	140					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTGGCCAGTCGTATCCAGGAA	0.522																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(418-420)Gta>Ata		G protein-coupled receptor 15							80	66	71					3																	98251295		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251295G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.418G>A	3.37:g.98251295G>A	ENSP00000284311:p.Val140Ile						p.V140I	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	553	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	140					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.418G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	2.976	-0.211319	0.06140	.	.	ENSG00000154165	ENST00000284311	T	0.36878	1.23	4.83	-2.46	0.06461	GPCR, rhodopsin-like superfamily (1);	1.635800	0.03796	N	0.263582	T	0.15262	0.0368	N	0.05078	-0.115	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.08597	-1.0714	10	0.21540	T	0.41	2.8908	1.992	0.03448	0.4205:0.1212:0.3281:0.1303	.	140	P49685	GPR15_HUMAN	I	140	ENSP00000284311:V140I	ENSP00000284311:V140I	V	+	1	0	GPR15	99733985	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-1.149000	0.03182	-0.636000	0.05524	0.591000	0.81541	GTA		0.522	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			8	62	0	0	0	1	0	8	62					A	98251295	G	A	98251295	3	1	360	1	0	0	0	0	1	0	0	0	6655	1145	40	1	420	1	GPR15	3	98251295	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		98251295	99771135	9	33788											
CEP63	80254	broad.mit.edu	37	chr3	134277174	134277174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaacaactgagttcaAgaatacagagttcaagtaaa	8	7	2	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:134277174A>T	ENST00000337090.3	+	13	1831	c.1658A>T	c.(1657-1659)aAg>aTg	p.K553M	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K553M			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	553					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGAGTTCAAGAATACAGAG	0.289																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1657-1659)aAg>aTg		centrosomal protein 63kDa							43	44	44					3																	134277174		2202	4299	6501	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134277174A>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1658A>T	3.37:g.134277174A>T	ENSP00000336524:p.Lys553Met					CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000354446.3_Intron	p.K553M			Q96MT8	CEP63_HUMAN			13	1831	+			553					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1658A>T	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.27|16.27	3.075842|3.075842	0.55646|0.55646	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000337090;ENST00000513612|ENST00000504929	T;T|.	0.21543|.	2.0;2.0|.	4.76|4.76	3.6|3.6	0.41247|0.41247	.|.	0.489229|.	0.21946|.	N|.	0.066813|.	T|.	0.54398|.	0.1856|.	L|L	0.57536|0.57536	1.79|1.79	0.32759|0.32759	N|N	0.505415|0.505415	D|.	0.69078|.	0.997|.	D|.	0.63192|.	0.912|.	T|.	0.62077|.	-0.6930|.	10|.	0.48119|.	T|.	0.1|.	-16.0171|-16.0171	8.3171|8.3171	0.32106|0.32106	0.9076:0.0:0.0924:0.0|0.9076:0.0:0.0924:0.0	.|.	553|.	Q96MT8|.	CEP63_HUMAN|.	M|X	553|242	ENSP00000336524:K553M;ENSP00000426129:K553M|.	ENSP00000336524:K553M|.	K|R	+|+	2|1	0|2	CEP63|CEP63	135759864|135759864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	2.455000|2.455000	0.44988|0.44988	0.965000|0.965000	0.38133|0.38133	0.383000|0.383000	0.25322|0.25322	AAG|AGA		0.289	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		9	36	0	0	0	1	0	9	36					T	134277174	A	T	134277174	3	4	360	1	0	0	0	0	1	0	0	0	3257	72	3	5	1704	5	CEP63	3	134277174	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	36025879	134277174	63745256	10	33789											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	8	5	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	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)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	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						c.e3-1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		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		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.352_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	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		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	32	38	0	0	0	1	0	32	38					A	178917478	G	A	178917478	5	1	360	1	0	0	0	0	0	0	1	0	11913	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	44640304	178917478	19104952	11	33790											
TSSK1B	83942	broad.mit.edu	37	chr5	112770050	112770050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcgaccactgtcatcccGcaggcagcgcttggagaagc	11	14	1	1	rs139028259		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:112770050G>A	ENST00000390666.3	-	1	678	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCATCCCGCAGGCAGCGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20963	0.0		0.001	False		,,,				2504	0.0					ENST00000390666.3																			0				large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(487-489)Cgg>Tgg		testis-specific serine kinase 1B		G	,TRP/ARG	0,4404		0,0,2202	79	75	76		,487	0.2	0.9	5	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	MCC,TSSK1B	NM_001085377.1,NM_032028.3	,101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,163/368	112770050	1,13003	2202	4300	6502	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770050G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.487C>T	5.37:g.112770050G>A	ENSP00000375081:p.Arg163Trp					CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	p.R163W	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	678	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	163			Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.487C>T	CCDS4112.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.254	0.603871	0.14002	0.0	1.16E-4	ENSG00000212122	ENST00000390666	T	0.25414	1.8	1.24	0.19	0.15125	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	0.32055	U	0.006643	T	0.34193	0.0889	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.14839	-1.0458	10	0.44086	T	0.13	.	6.1779	0.20455	0.0:0.0:0.7032:0.2967	.	163	Q9BXA7	TSSK1_HUMAN	W	163	ENSP00000375081:R163W	ENSP00000375081:R163W	R	-	1	2	TSSK1B	112797949	0.000000	0.05858	0.903000	0.35520	0.224000	0.24922	0.233000	0.17911	-0.435000	0.07264	-0.823000	0.03104	CGG		0.577	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		4	65	0	0	0	1	0	4	65					A	112770050	G	A	112770050	3	1	360	1	0	0	0	0	1	0	0	0	16665	1086	38	1	620	1	TSSK1B	5	112770050	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		112770050	68145210	12	33791											
SEMA6A	57556	broad.mit.edu	37	chr5	115813739	115813739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccatatcgttcacaccgGccaaggggaacctttatcac	7	14	2	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:115813739G>A	ENST00000343348.6	-	14	2326	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G513G|SEMA6A_ENST00000282394.6_Silent_p.G45G|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G513G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	513					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)		GTTCACACCGGCCAAGGGGAA	0.463																																						ENST00000343348.6																			0				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						c.(1537-1539)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							157	149	151					5																	115813739		1993	4187	6180	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115813739G>A	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.1539C>T	5.37:g.115813739G>A						CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.G45G|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G513G|SEMA6A_ENST00000510263.1_Silent_p.G513G	p.G513G	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	14	2326	-		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)	513					Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.1539C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135135	0.21123	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.98	4.18	0.49190	.	.	.	.	.	T	0.53867	0.1823	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49753	-0.8906	4	.	.	.	.	4.7478	0.13045	0.0708:0.1203:0.4466:0.3622	.	.	.	.	V	83	.	.	A	-	2	0	SEMA6A	115841638	0.975000	0.34042	0.999000	0.59377	0.933000	0.57130	0.161000	0.16481	0.834000	0.34852	0.650000	0.86243	GCC		0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		4	158	0	0	0	1	0	4	158					A	115813739	G	A	115813739	2	1	360	1	0	0	0	0	0	0	0	1	14039	1190	42	2		2	SEMA6A	5	115813739	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	3043689	115813739	65101521	13	33792											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306487	140306487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagagggaggatggtgggcTgtggggtggcagttttatgt	20	3	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:140306487T>C	ENST00000253807.2	+	1	10	c.10T>C	c.(10-12)Tgt>Cgt	p.C4R	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	4					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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGGCTGTGGGGTGGC	0.647																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(10-12)Tgt>Cgt									128	152	144					5																	140306487		2203	4300	6503	SO:0001583	missense	0							g.chr5:140306487T>C	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.10T>C	5.37:g.140306487T>C	ENSP00000253807:p.Cys4Arg					PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.C4R	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	10	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.10T>C	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393946	0.25205	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.51325	0.73;0.71	5.51	4.33	0.51752	.	.	.	.	.	T	0.29093	0.0723	N	0.12182	0.205	0.38391	D	0.945395	B;B	0.20164	0.042;0.001	B;B	0.22601	0.04;0.0	T	0.08932	-1.0698	9	0.22109	T	0.4	.	11.4535	0.50167	0.0:0.0:0.1506:0.8494	.	4;4	Q9H158;Q9H158-2	PCDC1_HUMAN;.	R	4	ENSP00000386356:C4R;ENSP00000253807:C4R	ENSP00000253807:C4R	C	+	1	0	PCDHAC1	140286671	0.994000	0.37717	0.995000	0.50966	0.218000	0.24690	1.671000	0.37513	0.897000	0.36392	0.459000	0.35465	TGT		0.647	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		12	59	0	0	0	1	0	12	59					C	140306487	T	C	140306487	3	2	360	1	0	0	0	0	1	0	0	0	11532	1580	55	3	12	3	PCDHAC1	5	140306487	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	24492748	140306487	40608773	14	33793											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271605	26271605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgcagtctgcttggtgCgggccatctcagactacctg	13	12	2	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:26271605C>T	ENST00000305910.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	3					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						CTGCTTGGTGCGGGCCATCTC	0.562																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(7-9)cGc>cAc		histone cluster 1, H3g							24	27	26					6																	26271605		2192	4283	6475	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271605C>T	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.8G>A	6.37:g.26271605C>T	ENSP00000439660:p.Arg3His						p.R3H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	7	-			3					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.8G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368416	0.42003	.	.	ENSG00000256018	ENST00000305910	T	0.46819	0.86	4.36	4.36	0.52297	.	.	.	.	.	T	0.53126	0.1777	.	.	.	0.35535	D	0.802545	.	.	.	.	.	.	T	0.60762	-0.7199	6	0.62326	D	0.03	.	16.2821	0.82697	0.0:1.0:0.0:0.0	.	.	.	.	H	3	ENSP00000439660:R3H	ENSP00000439660:R3H	R	-	2	0	HIST1H3G	26379584	0.989000	0.36119	0.647000	0.29507	0.008000	0.06430	5.890000	0.69774	2.157000	0.67596	0.563000	0.77884	CGC		0.562	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		4	63	0	0	0	1	0	4	63					T	26271605	C	T	26271605	3	4	360	1	0	0	0	0	1	0	0	0	7161	768	27	1	406	1	HIST1H3G	6	26271605	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		26271605	144843462	15	33794											
UTRN	7402	broad.mit.edu	37	chr6	144835787	144835787	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttttcttataattagcGtttagtatctgagctggatg	10	4	2	1	rs201062311		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:144835787G>T	ENST00000367545.3	+	36	5075	c.5075G>T	c.(5074-5076)cGt>cTt	p.R1692L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1692	Interaction with SYNM.				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)		TATAATTAGCGTTTAGTATCT	0.388																																						ENST00000367545.3																			0				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						c.e36-1		utrophin							110	112	111					6																	144835787		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835787G>T	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.5074-1G>T	6.37:g.144835787G>T							p.R1692_splice	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	36	5075	+		Ovarian(120;0.218)	1692			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.5073_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782084	0.90282	.	.	ENSG00000152818	ENST00000367545	T	0.50548	0.74	5.34	5.34	0.76211	.	0.000000	0.49916	D	0.000127	T	0.64649	0.2617	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65915	-0.6052	10	0.59425	D	0.04	.	19.3965	0.94608	0.0:0.0:1.0:0.0	.	1692	P46939	UTRO_HUMAN	L	1692	ENSP00000356515:R1692L	ENSP00000356515:R1692L	R	+	2	0	UTRN	144877480	1.000000	0.71417	0.984000	0.44739	0.940000	0.58332	7.572000	0.82409	2.664000	0.90586	0.655000	0.94253	CGT		0.388	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Missense_Mutation	11	108	1	0	3.07112e-06	1	3.07112e-06	11	108					T	144835787	G	T	144835787	5	4	360	1	0	0	0	0	0	0	1	0	17100	1159	40	4	5217	4	UTRN	6	144835787	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	118564182	144835787	26279280	16	33795											
PSPH	5723	broad.mit.edu	37	chr7	56084931	56084931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgttaacatcttaccgttAaagtagaatttcagcctatt	5	8	2	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:56084931A>C	ENST00000395471.3	-	6	1222	c.417T>G	c.(415-417)ttT>ttG	p.F139L	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.F139L			P78330	SERB_HUMAN	phosphoserine phosphatase	139					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTACCGTTAAAGTAGAATT	0.383																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(415-417)ttT>ttG		phosphoserine phosphatase							102	81	88					7																	56084931		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56084931A>C	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.417T>G	7.37:g.56084931A>C	ENSP00000378854:p.Phe139Leu					PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.F139L	p.F139L			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1222	-	Breast(14;0.214)		139					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.417T>G	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003578	0.19121	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.83673	-1.75;-1.75;-1.75	4.85	-5.11	0.02901	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	L	0.48935	1.535	0.48452	D	0.999657	B;B	0.18610	0.029;0.007	B;B	0.18263	0.021;0.021	T	0.55692	-0.8101	10	0.11485	T	0.65	-11.5252	14.6984	0.69139	0.4629:0.0:0.5371:0.0	.	139;139	Q53EY1;P78330	.;SERB_HUMAN	L	139	ENSP00000275605:F139L;ENSP00000378854:F139L;ENSP00000398653:F139L	ENSP00000275605:F139L	F	-	3	2	PSPH	56052425	0.523000	0.26274	0.980000	0.43619	0.774000	0.43823	-0.111000	0.10807	-0.710000	0.05001	-0.457000	0.05445	TTT		0.383	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		38	31	0	0	0	1	0	38	31					C	56084931	A	C	56084931	3	2	360	1	0	0	0	0	1	0	0	0	12717	359	13	5	272	5	PSPH	7	56084931	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		56084931	103053732	17	33796											
GNAI1	2770	broad.mit.edu	37	chr7	79842082	79842082	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacagcatatgtaacaacaaGtggtttacagatacatccat	7	8	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:79842082G>C	ENST00000351004.3	+	7	1144	c.771G>C	c.(769-771)aaG>aaC	p.K257N	GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	257					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)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTAACAACAAGTGGTTTACAG	0.323																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)aaG>aaC		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							78	79	79					7																	79842082		2203	4297	6500	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79842082G>C	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.771G>C	7.37:g.79842082G>C	ENSP00000343027:p.Lys257Asn					GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N	p.K257N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			7	1144	+			257					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.771G>C	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704013	0.68615	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.89810	-2.57;-2.57	6.17	-2.26	0.06867	.	0.000000	0.85682	D	0.000000	D	0.91147	0.7212	M	0.78344	2.41	0.80722	D	1	P	0.49253	0.921	P	0.56612	0.802	D	0.89074	0.3471	9	.	.	.	.	12.6362	0.56685	0.5218:0.0:0.4782:0.0	.	257	P63096	GNAI1_HUMAN	N	257;205	ENSP00000343027:K257N;ENSP00000410572:K205N	.	K	+	3	2	GNAI1	79680018	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	1.263000	0.33004	-0.394000	0.07727	0.655000	0.94253	AAG		0.323	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		4	79	0	0	0	1	0	4	79					C	79842082	G	C	79842082	3	2	360	1	0	0	0	0	1	0	0	0	6504	1020	36	4	797	4	GNAI1	7	79842082	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	23757151	79842082	79296581	18	33797											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		6	5	0	0	0	1	0	6	5					G	41790659	T	G	41790659	2	3	360	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08		41790659	104573363	19	33798											
PKN3	29941	broad.mit.edu	37	chr9	131479035	131479035	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctgtagcctgtactgCgagaagcggatcctggaggc	13	12	1	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:131479035C>G	ENST00000291906.4	+	16	2211	c.1818C>G	c.(1816-1818)tgC>tgG	p.C606W	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCCTGTACTGCGAGAAGCGGA	0.602																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1816-1818)tgC>tgG		protein kinase N3							138	117	124					9																	131479035		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131479035C>G	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1818C>G	9.37:g.131479035C>G	ENSP00000291906:p.Cys606Trp					PKN3_ENST00000485301.1_3'UTR	p.C606W	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			16	2211	+			606			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1818C>G	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107824	0.56291	.	.	ENSG00000160447	ENST00000291906	T	0.24151	1.87	5.44	-3.5	0.04710	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	0.34948	0.0915	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23476	-1.0187	9	0.87932	D	0	.	11.1236	0.48304	0.0:0.4356:0.0:0.5644	.	606	Q6P5Z2	PKN3_HUMAN	W	606	ENSP00000291906:C606W	ENSP00000291906:C606W	C	+	3	2	PKN3	130518856	0.888000	0.30383	0.966000	0.40874	0.960000	0.62799	-0.103000	0.10940	-0.776000	0.04578	-1.202000	0.01658	TGC		0.602	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		16	150	0	0	0	1	0	16	150					G	131479035	C	G	131479035	3	3	360	1	0	0	0	0	1	0	0	0	11981	776	27	4	1880	4	PKN3	9	131479035	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		131479035	9734396	20	33799											
NOTCH1	4851	broad.mit.edu	37	chr9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-													cacgggttcgagacgcactcGttgacgtcgatctcgcatcg					rs373152976		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	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)	p.N454delN(2)		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)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		2	Deletion - In frame(2)	p.N454delN(2)	central_nervous_system(2)	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						c.(1360-1362)del		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412283_139412285delGTT	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.1360_1362delAAC	9.37:g.139412283_139412285delGTT	ENSP00000277541:p.Asn454del	HNSCC(8;0.001)					p.N454del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1435_1437	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	454			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1360_1362delAAC	CCDS43905.1																																																																																				0.66	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	113						13	113	---	---	---	---	-	139412285	GTT	-	139412283	7	5	360	1	0	1	0	1	0	0	0	0	10547	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-P5-A5F0-01A-11D-A289-08	7933248	139412283	1801148	21	33800											
ITIH5	80760	broad.mit.edu	37	chr10	7679258	7679258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccagggatgcgatgccCgcgctctccaggatattcac	10	15	2	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr10:7679258C>T	ENST00000256861.6	-	5	663	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ITIH5_ENST00000397145.2_Silent_p.A195A|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					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						ATGCGATGCCCGCGCTCTCCA	0.657																																						ENST00000256861.6																			0				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						c.(583-585)gcG>gcA		inter-alpha-trypsin inhibitor heavy chain family, member 5							71	72	72					10																	7679258		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679258C>T			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.585G>A	10.37:g.7679258C>T						ITIH5_ENST00000397145.2_Silent_p.A195A|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A	p.A195A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			5	663	-			195					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.585G>A																																																																																					0.657	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		61	120	0	0	0	1	0	61	120					T	7679258	C	T	7679258	2	4	360	1	0	0	0	0	0	0	0	1	7907	639	23	1		1	ITIH5	10	7679258	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		7679258	127855489	22	33801											
TEAD1	7003	broad.mit.edu	37	chr11	12883803	12883803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctttctttcaggtaggaAtgaattgatagccagataca	8	7	3	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:12883803A>G	ENST00000527575.1	+	3	322	c.209A>G	c.(208-210)aAt>aGt	p.N70S	TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S|TEAD1_ENST00000361905.4_Missense_Mutation_p.N55S|TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	70					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)		TCAGGTAGGAATGAATTGATA	0.403																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(163-165)aAt>aGt		TEA domain family member 1 (SV40 transcriptional enhancer factor)							106	95	99					11																	12883803		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12883803A>G	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		ENST00000527575.1:c.209A>G	11.37:g.12883803A>G	ENSP00000435977:p.Asn70Ser					TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S|TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000527575.1_Missense_Mutation_p.N70S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S	p.N55S	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	4	829	+			70					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000527575.1	37	c.164A>G		.	.	.	.	.	.	.	.	.	.	A	24.8	4.568505	0.86439	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.79	5.79	0.91817	.	0.041690	0.85682	D	0.000000	T	0.81754	0.4889	H	0.94183	3.505	0.80722	D	1	D	0.59357	0.985	D	0.64687	0.928	D	0.86752	0.1961	10	0.66056	D	0.02	-13.2949	15.7943	0.78398	1.0:0.0:0.0:0.0	.	70	P28347	TEAD1_HUMAN	S	55;70;70;55;70	ENSP00000355332:N55S;ENSP00000435233:N70S;ENSP00000435977:N70S;ENSP00000334754:N55S;ENSP00000354588:N70S	ENSP00000334754:N55S	N	+	2	0	TEAD1	12840379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.208000	0.71279	0.533000	0.62120	AAT		0.403	TEAD1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000386888.1	NM_021961		5	54	0	0	0	1	0	5	54					G	12883803	A	G	12883803	3	3	360	1	0	0	0	0	1	0	0	0	15735	101	4	3	215	3	TEAD1	11	12883803	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		12883803	122122713	23	33802											
OR4C16	219428	broad.mit.edu	37	chr11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtttgttatttttttgCgtctctacttgggaacactg	9	6	1	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:55339694C>T	ENST00000314634.3	+	1	91	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						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)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TATTTTTTTGCGTCTCTACTT	0.373																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)Cgt>Tgt		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							182	171	175					11																	55339694		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339694C>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.91C>T	11.37:g.55339694C>T	ENSP00000324913:p.Arg31Cys						p.R31C	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	91	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.91C>T	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	C	9.601	1.128613	0.21041	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	-6.75	0.01738	.	2.239510	0.01631	N	0.023546	T	0.00109	0.0003	N	0.00677	-1.265	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.49670	-0.8915	10	0.66056	D	0.02	.	2.689	0.05115	0.0976:0.2919:0.1926:0.418	.	31	Q8NGL9	OR4CG_HUMAN	C	31	ENSP00000324913:R31C	ENSP00000324913:R31C	R	+	1	0	OR4C16	55096270	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.079000	0.00082	-1.262000	0.02459	-2.709000	0.00134	CGT		0.373	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		47	87	0	0	0	1	0	47	87					T	55339694	C	T	55339694	3	4	360	1	0	0	0	0	1	0	0	0	11049	768	27	1	93	1	OR4C16	11	55339694	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	42455891	55339694	79666822	24	33803											
MMP10	4319	broad.mit.edu	37	chr11	102649942	102649942	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgctttatttgattAcctttaactgcaaaagagat	7	5	0	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:102649942A>G	ENST00000279441.4	-	3	533		c.e3+1			NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TTATTTGATTACCTTTAACTG	0.373																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.e3+1		matrix metallopeptidase 10 (stromelysin 2)							126	130	128					11																	102649942		2203	4299	6502	SO:0001630	splice_region_variant	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102649942A>G	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.496+1T>C	11.37:g.102649942A>G								NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	3	533	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X9|Q53HH9	Splice_Site	SNP	ENST00000279441.4	37		CCDS8321.1	.	.	.	.	.	.	.	.	.	.	A	6.078	0.382668	0.11524	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	.	.	.	4.38	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2925	0.49258	0.8468:0.1532:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP10	102155152	1.000000	0.71417	0.530000	0.27963	0.008000	0.06430	6.792000	0.75125	0.800000	0.34041	-0.438000	0.05819	.		0.373	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		Intron	5	109	0	0	0	1	0	5	109					G	102649942	A	G	102649942	5	3	360	1	0	0	0	0	0	0	1	0	9649	405	14	3	964	3	MMP10	11	102649942	Splice_Site	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	47310248	102649942	32356574	25	33804											
POU2AF1	5450	broad.mit.edu	37	chr11	111229622	111229622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtatggccgggccggggctGgggcttgctccggagctgtg	21	10	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:111229622G>A	ENST00000393067.3	-	2	552	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	13					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGCCGGGGCTGGGGCTTGCTC	0.632			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(37-39)cCa>cTa		POU class 2 associating factor 1							48	49	49					11																	111229622		2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111229622G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.38C>T	11.37:g.111229622G>A	ENSP00000376786:p.Pro13Leu						p.P13L	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	2	552	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	13					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.38C>T	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165888	0.78339	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.32753	1.44;1.44	5.0	5.0	0.66597	.	0.238634	0.35936	N	0.002889	T	0.33990	0.0882	L	0.45581	1.43	0.49389	D	0.999781	P	0.48089	0.905	P	0.47941	0.562	T	0.03761	-1.1006	10	0.15499	T	0.54	-1.2837	16.0815	0.81007	0.0:0.0:1.0:0.0	.	13	Q16633	OBF1_HUMAN	L	13;15	ENSP00000376786:P13L;ENSP00000433527:P15L	ENSP00000376786:P13L	P	-	2	0	POU2AF1	110734832	0.999000	0.42202	0.973000	0.42090	0.656000	0.38851	3.990000	0.56965	2.331000	0.79229	0.305000	0.20034	CCA		0.632	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		18	28	0	0	0	1	0	18	28					A	111229622	G	A	111229622	3	1	360	1	0	0	0	0	1	0	0	0	12270	1348	47	2	748	2	POU2AF1	11	111229622	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	8579680	111229622	23776894	26	33805											
CD163L1	283316	broad.mit.edu	37	chr12	7526163	7526163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgctgccccaggtcccGttatagaagacttccaatct	8	15	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:7526163G>A	ENST00000313599.3	-	14	3540	c.3483C>T	c.(3481-3483)aaC>aaT	p.N1161N	CD163L1_ENST00000416109.2_Silent_p.N1171N|CD163L1_ENST00000396630.1_Silent_p.N1161N|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1161	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGTCCCGTTATAGAAGA	0.512																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3481-3483)aaC>aaT		CD163 molecule-like 1							138	145	143					12																	7526163		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526163G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3483C>T	12.37:g.7526163G>A						CD163L1_ENST00000416109.2_Silent_p.N1171N|CD163L1_ENST00000396630.1_Silent_p.N1161N	p.N1161N			Q9NR16	C163B_HUMAN			14	3540	-			1161			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3483C>T	CCDS8577.1																																																																																				0.512	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		9	301	0	0	0	1	0	9	301					A	7526163	G	A	7526163	2	1	360	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CD163L1	12	7526163	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		7526163	126325732	27	33806											
A2ML1	144568	broad.mit.edu	37	chr12	8976368	8976368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccacaatccgggtgtcggGagttggaaataacatcagct	13	9	1	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:8976368G>A	ENST00000299698.7	+	3	479	c.299G>A	c.(298-300)gGa>gAa	p.G100E	A2ML1-AS1_ENST00000537288.1_RNA	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						CGGGTGTCGGGAGTTGGAAAT	0.527																																						ENST00000299698.7																			0				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						c.(298-300)gGa>gAa		alpha-2-macroglobulin-like 1							103	104	104					12																	8976368		1883	4092	5975	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8976368G>A	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.299G>A	12.37:g.8976368G>A	ENSP00000299698:p.Gly100Glu					A2ML1-AS1_ENST00000537288.1_RNA	p.G100E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			3	479	+			0						Missense_Mutation	SNP	ENST00000299698.7	37	c.299G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904292	0.17760	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.34667	1.35	3.99	2.03	0.26663	.	0.354583	0.20631	N	0.088585	T	0.25791	0.0628	N	0.24115	0.695	0.18873	N	0.999988	P	0.37370	0.592	B	0.39562	0.303	T	0.13845	-1.0494	10	0.72032	D	0.01	.	10.0485	0.42201	0.0:0.4019:0.5981:0.0	.	100	A8K2U0	A2ML1_HUMAN	E	100	ENSP00000299698:G100E	ENSP00000299698:G100E	G	+	2	0	A2ML1	8867635	0.001000	0.12720	0.003000	0.11579	0.352000	0.29268	0.085000	0.14912	0.574000	0.29417	0.655000	0.94253	GGA		0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		75	121	0	0	0	1	0	75	121					A	8976368	G	A	8976368	3	1	360	1	0	0	0	0	1	0	0	0	5	1174	41	2	309	2	A2ML1	12	8976368	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	1450205	8976368	124875527	28	33807											
SPATA13	221178	broad.mit.edu	37	chr13	24858319	24858319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgccttagtggatgacaaCggtagtgaggaggacttcag	14	7	2	2	rs367888214		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr13:24858319C>G	ENST00000382095.4	+	4	743	c.336C>G	c.(334-336)aaC>aaG	p.N112K	SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.N615K|SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K|SPATA13_ENST00000424834.2_Missense_Mutation_p.N737K	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2209-2211)aaC>aaG		spermatogenesis associated 13							78	67	70					13																	24858319		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24858319C>G	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.336C>G	13.37:g.24858319C>G	ENSP00000371527:p.Asn112Lys					SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000382095.4_Missense_Mutation_p.N112K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K|SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K	p.N737K			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	7	2684	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	112					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2211C>G	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.051|8.051	0.765954|0.765954	0.15983|0.15983	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083|ENST00000424834	T;T;T;T;T;T;T|.	0.77229|.	-0.73;-0.4;-1.08;-0.44;-1.05;-0.46;-0.46|.	5.65|5.65	-9.98|-9.98	0.00438|0.00438	.|.	0.082034|.	0.85682|.	N|.	0.000000|.	T|T	0.54647|0.54647	0.1871|0.1871	L|L	0.55481|0.55481	1.735|1.735	0.22745|0.22745	N|N	0.998781|0.998781	D;B;D;B;B;B|.	0.57899|.	0.981;0.01;0.969;0.006;0.018;0.002|.	P;B;P;B;B;B|.	0.51974|.	0.625;0.01;0.686;0.023;0.007;0.004|.	T|T	0.60419|0.60419	-0.7267|-0.7267	10|5	0.06099|.	T|.	0.92|.	.|.	20.865|20.865	0.99795|0.99795	0.0:0.2172:0.0:0.7828|0.0:0.2172:0.0:0.7828	.|.	34;56;58;58;34;112|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	K|G	737;112;72;58;34;34;56;56|775	ENSP00000371542:N737K;ENSP00000371527:N112K;ENSP00000401605:N72K;ENSP00000382830:N34K;ENSP00000386471:N34K;ENSP00000343631:N56K;ENSP00000397498:N56K|.	ENSP00000343631:N56K|.	N|R	+|+	3|1	2|2	SPATA13|SPATA13	23756319|23756319	0.018000|0.018000	0.18449|0.18449	0.028000|0.028000	0.17463|0.17463	0.116000|0.116000	0.19942|0.19942	-1.365000|-1.365000	0.02587|0.02587	-2.529000|-2.529000	0.00492|0.00492	-2.133000|-2.133000	0.00342|0.00342	AAC|CGG		0.493	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		19	12	0	0	0	1	0	19	12					G	24858319	C	G	24858319	3	3	360	1	0	0	0	0	1	0	0	0	14999	535	19	4	2225	4	SPATA13	13	24858319	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		24858319	90311559	29	33808											
USP8	9101	broad.mit.edu	37	chr15	50769066	50769066	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagtaaaactgtcctGcgcaatgagcctttggtttt	11	7	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr15:50769066G>C	ENST00000396444.3	+	9	1208	c.870G>C	c.(868-870)ctG>ctC	p.L290L	USP8_ENST00000433963.1_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000307179.4_Silent_p.L290L	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	290	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAACTGTCCTGCGCAATGAGC	0.393																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(868-870)ctG>ctC		ubiquitin specific peptidase 8							107	102	104					15																	50769066		2196	4294	6490	SO:0001819	synonymous_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769066G>C	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.870G>C	15.37:g.50769066G>C						USP8_ENST00000396444.3_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000307179.4_Silent_p.L290L	p.L290L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	10	1370	+			290			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	c.870G>C	CCDS10137.1																																																																																				0.393	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		29	67	0	0	0	1	0	29	67					C	50769066	G	C	50769066	2	2	360	1	0	0	0	0	0	0	0	1	17086	1306	46	4		4	USP8	15	50769066	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		50769066	51762326	30	33809											
PLK1	5347	broad.mit.edu	37	chr16	23695207	23695207	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacatcaaccccgtggCcgcctccctcatccagaaga	7	19	2	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:23695207C>G	ENST00000300093.4	+	5	944	c.833C>G	c.(832-834)gCc>gGc	p.A278G		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AACCCCGTGGCCGCCTCCCTC	0.557																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(832-834)gCc>gGc		polo-like kinase 1							202	213	209					16																	23695207		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23695207C>G		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.833C>G	16.37:g.23695207C>G	ENSP00000300093:p.Ala278Gly						p.A278G	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	944	+			278			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.833C>G	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829805	0.91036	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.67698	-0.28	5.32	5.32	0.75619	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	0.80597	0.4653	M	0.66378	2.025	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.82250	-0.0550	10	0.87932	D	0	-16.4203	16.8404	0.85967	0.0:1.0:0.0:0.0	.	278	P53350	PLK1_HUMAN	G	278;181	ENSP00000300093:A278G	ENSP00000300093:A278G	A	+	2	0	PLK1	23602708	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	7.135000	0.77276	2.637000	0.89404	0.655000	0.94253	GCC		0.557	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		53	494	0	0	0	1	0	53	494					G	23695207	C	G	23695207	3	3	360	1	0	0	0	0	1	0	0	0	12094	739	26	4	851	4	PLK1	16	23695207	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		23695207	66659546	31	33810											
NACA2	342538	broad.mit.edu	37	chr17	59668211	59668211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagcagggctcttgtagaCgtccagttttgtgatgacaa	12	8	1	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:59668211C>T	ENST00000521764.1	-	1	352	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	111	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTCTTGTAGACGTCCAGTTTT	0.443																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(331-333)Gtc>Atc		nascent polypeptide-associated complex alpha subunit 2							181	180	180					17																	59668211		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668211C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.331G>A	17.37:g.59668211C>T	ENSP00000427802:p.Val111Ile						p.V111I	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	352	-	all_epithelial(1;3.12e-14)		111			NAC-A/B.		Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.331G>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040939	0.55003	.	.	ENSG00000253506	ENST00000521764	T	0.65732	-0.17	0.753	0.753	0.18404	Nascent polypeptide-associated complex NAC (2);	0.000000	0.64402	U	0.000010	T	0.75133	0.3808	M	0.83603	2.65	0.48762	D	0.999704	D	0.89917	1.0	D	0.91635	0.999	T	0.73898	-0.3837	9	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	111	Q9H009	NACA2_HUMAN	I	111	ENSP00000427802:V111I	.	V	-	1	0	NACA2	57022993	1.000000	0.71417	0.314000	0.25224	0.041000	0.13682	5.234000	0.65343	0.702000	0.31825	0.411000	0.27672	GTC		0.443	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		80	198	0	0	0	1	0	80	198					T	59668211	C	T	59668211	3	4	360	1	0	0	0	0	1	0	0	0	10134	536	19	1	320	1	NACA2	17	59668211	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		59668211	21526999	32	33811											
GRAMD1A	57655	broad.mit.edu	37	chr19	35504508	35504508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcgggggcagctgaCcgcagccaggagccaagccc	13	17	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:35504508C>T	ENST00000317991.5	+	9	975	c.783C>T	c.(781-783)gaC>gaT	p.D261D	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000504615.2_Silent_p.D27D|GRAMD1A_ENST00000599564.1_Silent_p.D348D	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	261						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCAGCTGACCGCAGCCAGG	0.662																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1042-1044)gaC>gaT		GRAM domain containing 1A							24	29	27					19																	35504508		2113	4218	6331	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35504508C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.783C>T	19.37:g.35504508C>T						GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000317991.5_Silent_p.D261D|GRAMD1A_ENST00000504615.2_Silent_p.D27D	p.D348D			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1115	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		261					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1044C>T	CCDS42546.1																																																																																				0.662	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		26	24	0	0	0	1	0	26	24					T	35504508	C	T	35504508	2	4	360	1	0	0	0	0	0	0	0	1	6747	506	18	2		2	GRAMD1A	19	35504508	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		35504508	23624475	33	33812											
CIC	23152	broad.mit.edu	37	chr19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatcctgggcgagtggtgGtatgccctggggcccaagga	17	9	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42791828G>A	ENST00000575354.2	+	5	754	c.714G>A	c.(712-714)tgG>tgA	p.W238*	CIC_ENST00000572681.2_Nonsense_Mutation_p.W1147*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238					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)				GCGAGTGGTGGTATGCCCTGG	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3439-3441)tgG>tgA		capicua transcriptional repressor							82	75	77					19																	42791828		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791828G>A	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.714G>A	19.37:g.42791828G>A	ENSP00000458663:p.Trp238*					CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*	p.W1147*			Q96RK0	CIC_HUMAN			6	3509	+		Prostate(69;0.00682)	238			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3441G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	41	8.802137	0.98960	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.5755	14.5138	0.67807	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000160740:W238X	W	+	3	0	CIC	47483668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	TGG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	47	0	0	0	1	0	32	47					A	42791828	G	A	42791828	4	1	360	1	0	0	0	0	0	1	0	0	3424	1270	44	2	732	2	CIC	19	42791828	Nonsense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	7287320	42791828	16337155	34	33813			1	39		3	3	5052	N	G_C_A	2.120113e-05
CIC	23152	broad.mit.edu	37	chr19	42795615	42795615	+	Frame_Shift_Del	DEL	A	A	-													taccctccgccccaccccccAaaggtgagacctgggccggg							TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42795615delA	ENST00000575354.2	+	10	2735	c.2695delA	c.(2695-2697)aaafs	p.K899fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.K1808fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	899	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)				CCCACCCCCCAAAGGTGAGAC	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5422-5424)aafs		capicua transcriptional repressor							53	54	54					19																	42795615		2174	4270	6444	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795615delA	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.2695delA	19.37:g.42795615delA	ENSP00000458663:p.Lys899fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.K899fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs	p.K1808fs			Q96RK0	CIC_HUMAN			11	5490	+		Prostate(69;0.00682)	899					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5422delA	CCDS12601.1																																																																																				0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	120						18	120	---	---	---	---	-	42795615	A	-	42795615	7	5	360	1	0	1	0	1	0	0	0	0	3424	131	5	0	2733	0	CIC	19	42795615	Frame_Shift_Del	DEL	A	TCGA-P5-A5F0-01A-11D-A289-08	3787	42795615	16333368	35	33814			1	39		3	3	5052	N	G_C_A	2.120113e-05
CIC	23152	broad.mit.edu	37	chr19	42796879	42796879	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccctggcccagccatccCaggcccccccaagcctggtc	8	23	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42796879C>T	ENST00000575354.2	+	14	3377	c.3337C>T	c.(3337-3339)Cag>Tag	p.Q1113*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q2021*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1113	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)				CCAGCCATCCCAGGCCCCCCC	0.682			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(6061-6063)Cag>Tag		capicua transcriptional repressor							45	54	51					19																	42796879		2203	4299	6502	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796879C>T	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.3337C>T	19.37:g.42796879C>T	ENSP00000458663:p.Gln1113*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q1113*	p.Q2021*			Q96RK0	CIC_HUMAN			15	6129	+		Prostate(69;0.00682)	1113					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.6061C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442044	0.83993	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.67	13.7474	0.62883	0.0:1.0:0.0:0.0	.	.	.	.	X	1113	.	ENSP00000160740:Q1113X	Q	+	1	0	CIC	47488719	1.000000	0.71417	0.995000	0.50966	0.676000	0.39594	3.621000	0.54210	2.635000	0.89317	0.484000	0.47621	CAG		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	79	0	0	0	1	0	6	79					T	42796879	C	T	42796879	4	4	360	1	0	0	0	0	0	1	0	0	3424	595	21	2	3391	2	CIC	19	42796879	Nonsense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1264	42796879	16332104	36	33815			1	39		3	3	5052	N	G_C_A	2.120113e-05
ZNF285	26974	broad.mit.edu	37	chr19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctgcccactcttcacTgagggaaacatcttctaaat	6	12	4	1	rs79240579		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	108					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(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393																																						ENST00000330997.4																			0				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						c.(322-324)Agt>Tgt		zinc finger protein 285							90	89	89					19																	44892085		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892085T>A	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.322A>T	19.37:g.44892085T>A	ENSP00000333595:p.Ser108Cys					ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron	p.S108C	NM_152354.3	NP_689567.3					4	386	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.322A>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.371	0.253712	0.10185	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05717	3.4	3.22	1.05	0.20165	.	.	.	.	.	T	0.02119	0.0066	N	0.01668	-0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43814	-0.9368	9	0.49607	T	0.09	.	2.7258	0.05213	0.644:0.0:0.1304:0.2256	.	132;108	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	C	131;108	ENSP00000333595:S108C	ENSP00000333595:S108C	S	-	1	0	ZNF285	49583925	0.000000	0.05858	0.023000	0.16930	0.271000	0.26615	0.103000	0.15292	0.036000	0.15547	-0.610000	0.04054	AGT		0.393	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		4	84	0	0	0	1	0	4	84					A	44892085	T	A	44892085	3	1	360	1	0	0	0	0	1	0	0	0	17819	1580	55	5	1454	5	ZNF285	19	44892085	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2095206	44892085	14236898	37	33816											
FGF21	26291	broad.mit.edu	37	chr19	49261318	49261318	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaccgggaccctgcAccccgaggaccagctcgctt	9	20	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.A157A			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		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;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682																																						ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(469-471)gcA>gcC		fibroblast growth factor 21							28	35	33					19																	49261318		2202	4298	6500	SO:0001819	synonymous_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261318A>C	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.471A>C	19.37:g.49261318A>C						FGF21_ENST00000222157.3_Silent_p.A157A	p.A157A			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1043	+		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)	157					Q8N683	Silent	SNP	ENST00000593756.1	37	c.471A>C	CCDS12734.1																																																																																				0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			12	42	0	0	0	1	0	12	42					C	49261318	A	C	49261318	2	2	360	1	0	0	0	0	0	0	0	1	5850	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	4369233	49261318	9867665	38	33817											
CCT8L2	150160	broad.mit.edu	37	chr22	17072572	17072576	+	Frame_Shift_Del	DEL	ATTCC	ATTCC	-													ccaacaccactgccacattaAttcctgcagctgctagctgg							TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr22:17072572_17072576delATTCC	ENST00000359963.3	-	1	1124_1128	c.865_869delGGAAT	c.(865-870)ggaattfs	p.GI289fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	289					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCACATTAATTCCTGCAGCTGCT	0.507																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(865-870)tfs		chaperonin containing TCP1, subunit 8 (theta)-like 2																																				SO:0001589	frameshift_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072572_17072576delATTCC	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.865_869delGGAAT	22.37:g.17072572_17072576delATTCC	ENSP00000353048:p.Gly289fs						p.GI289fs	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1124_1128	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	289					A4QPH3|Q9UJS3	Frame_Shift_Del	DEL	ENST00000359963.3	37	c.865_869delGGAAT	CCDS13738.1																																																																																				0.507	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			16	278						16	278	---	---	---	---	-	17072576	ATTCC	-	17072572	7	5	360	1	0	1	0	1	0	0	0	0	2961	101	4	0	808	0	CCT8L2	22	17072572	Frame_Shift_Del	DEL	ATTCC	TCGA-P5-A5F0-01A-11D-A289-08		17072572	34231994	39	33818											
ZFX	7543	broad.mit.edu	37	chrX	24229107	24229109	+	In_Frame_Del	DEL	AAG	AAG	-													ttcacaggccttcagaactcAagaaacacgtggctgcccac							TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chrX:24229107_24229109delAAG	ENST00000379177.1	+	11	2459_2461	c.2032_2034delAAG	c.(2032-2034)aagdel	p.K679del	ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del|ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000304543.5_In_Frame_Del_p.K679del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	679					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						TTCAGAACTCAAGAAACACGTGG	0.424																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2032-2034)del		zinc finger protein, X-linked																																				SO:0001651	inframe_deletion	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229107_24229109delAAG		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.2032_2034delAAG	X.37:g.24229107_24229109delAAG	ENSP00000368475:p.Lys679del					ZFX_ENST00000304543.5_In_Frame_Del_p.K679del|ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del	p.K679del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2459_2461	+			679					B9EG97|O43668|Q8WYJ8	In_Frame_Del	DEL	ENST00000379177.1	37	c.2032_2034delAAG	CCDS14211.1																																																																																				0.424	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		15	52						15	52	---	---	---	---	-	24229109	AAG	-	24229107	7	5	360	1	0	1	0	1	0	0	0	0	17658	131	5	0	2117	0	ZFX	23	24229107	In_Frame_Del	DEL	AAG	TCGA-P5-A5F0-01A-11D-A289-08		24229107	131041453	40	33819											
NPPB	4879	broad.mit.edu	37	chr1	11918783	11918783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccggacgtttccaagtcCgaggctgaaccggggctgcc	13	14	0	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:11918783C>T	ENST00000376468.3	-	1	205	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	36					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|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)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	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;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	TTTCCAAGTCCGAGGCTGAAC	0.637																																						ENST00000376468.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(106-108)tcG>tcA		natriuretic peptide B	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						68	80	76					1																	11918783		2203	4300	6503	SO:0001819	synonymous_variant	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918783C>T	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"Endogenous ligands"	7940	protein-coding gene	gene with protein product		600295	"natriuretic peptide precursor B"			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.108G>A	1.37:g.11918783C>T							p.S36S	NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	205	-	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)	36					B0ZBE9|Q6FGY0|Q9P2Q7	Silent	SNP	ENST00000376468.3	37	c.108G>A	CCDS140.1																																																																																				0.637	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		4	173	0	0	0	1	0	4	173					T	11918783	C	T	11918783	2	4	361	1	0	0	0	0	0	0	0	1	10592	639	23	1		1	NPPB	1	11918783	Silent	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		11918783	237331838	1	33820											
CR1	1378	broad.mit.edu	37	chr1	207679428	207679428	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctaaggacaggtgcagaCgtaagtaactctggagtggg	16	6	1	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:207679428C>T	ENST00000367049.4	+	2	301	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	CR1_ENST00000367053.1_Splice_Site_p.R101C|CR1_ENST00000367052.1_Splice_Site_p.R101C|CR1_ENST00000400960.2_Splice_Site_p.R101C|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Splice_Site_p.R101C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	101	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGTGCAGACGTAAGTAACT	0.418																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.e2+1		complement component (3b/4b) receptor 1 (Knops blood group)							133	122	125					1																	207679428		1855	4088	5943	SO:0001630	splice_region_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679428C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.301+1C>T	1.37:g.207679428C>T						CR1_ENST00000367051.1_Splice_Site_p.R101_splice|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Splice_Site_p.R101_splice|CR1_ENST00000367053.1_Splice_Site_p.R101_splice|CR1_ENST00000400960.2_Splice_Site_p.R101_splice	p.R101_splice	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			2	301	+			101			Sushi 1.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Splice_Site	SNP	ENST00000367049.4	37	c.301_splice	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471755	0.26423	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.13	3.22	0.36961	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.68622	0.3021	M	0.89287	3.02	0.38694	D	0.952824	D;D;D;B;B	0.89917	1.0;1.0;1.0;0.125;0.125	D;D;D;B;B	0.85130	0.997;0.933;0.966;0.024;0.014	T	0.71576	-0.4551	9	0.48119	T	0.1	.	7.9508	0.30014	0.0:0.8869:0.0:0.1131	.	101;101;76;101;101	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	C	101	ENSP00000356019:R101C;ENSP00000356018:R101C;ENSP00000356020:R101C;ENSP00000383744:R101C;ENSP00000436139:R101C;ENSP00000356016:R101C	ENSP00000356016:R101C	R	+	1	0	CR1	205746051	0.924000	0.31332	0.879000	0.34478	0.442000	0.32017	1.678000	0.37586	1.096000	0.41439	0.591000	0.81541	CGT		0.418	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	Missense_Mutation	10	117	0	0	0	1	0	10	117					T	207679428	C	T	207679428	5	4	361	1	0	0	0	0	0	0	1	0	3840	550	19	1	307	1	CR1	1	207679428	Splice_Site	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	195760645	207679428	41571193	2	33821											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G													ctggagccttcgggcatggcINSgggctttggggggcattcgc							TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					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						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		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.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		11	139						11	139	---	---	---	---	G	74757186	-	G	74757185	7	5	361	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		74757185	168442188	3	33822											
TTN	7273	broad.mit.edu	37	chr2	179412203	179412203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaaatctgttctctgaacTgacacggaaagaatattcca	6	10	2	3	rs369254232		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:179412203T>G	ENST00000591111.1	-	289	89451	c.89227A>C	c.(89227-89229)Agt>Cgt	p.S29743R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31384R			Q8WZ42	TITIN_HUMAN	titin	29743	Fibronectin type-III 116. {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)			TTCTCTGAACTGACACGGAAA	0.383																																						ENST00000589042.1																			0				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						c.(94150-94152)Agt>Cgt		titin							46	43	44					2																	179412203		1854	4104	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412203T>G	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.89227A>C	2.37:g.179412203T>G	ENSP00000465570:p.Ser29743Arg					TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29743R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.S31384R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	94374	-			29743			Fibronectin type-III 129.		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	ENST00000591111.1	37	c.94150A>C		.	.	.	.	.	.	.	.	.	.	T	14.87	2.664458	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	4.82	0.62117	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37625	0.1010	N	0.03238	-0.38	0.42845	D	0.994068	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48598	0.583;0.583;0.583;0.583	T	0.50250	-0.8850	9	0.87932	D	0	.	12.2411	0.54541	0.1273:0.0:0.0:0.8727	.	22319;22444;22511;29743	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	28816;22319;22511;22444;22316	ENSP00000343764:S28816R;ENSP00000434586:S22319R;ENSP00000340554:S22511R;ENSP00000352154:S22444R	ENSP00000340554:S22511R	S	-	1	0	TTN	179120449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.956000	0.63645	2.302000	0.77476	0.533000	0.62120	AGT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	12	0	0	0	1	0	5	12					G	179412203	T	G	179412203	3	3	361	1	0	0	0	0	1	0	0	0	16732	1580	55	5	13925	5	TTN	2	179412203	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	104655018	179412203	63787170	4	33823											
RAPH1	65059	broad.mit.edu	37	chr2	204304519	204304519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctcagcttgagtgaggcGggtgctatcattccgtttgg	13	8	2	2	rs146219972		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:204304519G>A	ENST00000319170.5	-	14	3693	c.3394C>T	c.(3394-3396)Cgc>Tgc	p.R1132C	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1132					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGTGAGGCGGGTGCTATCA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18626	0.0		0.0	False		,,,				2504	0.001					ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3394-3396)Cgc>Tgc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1		G	CYS/ARG	0,4406		0,0,2203	113	103	106		3394	4.9	1	2	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAPH1	NM_213589.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1132/1251	204304519	2,13004	2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304519G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3394C>T	2.37:g.204304519G>A	ENSP00000316543:p.Arg1132Cys					RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|RAPH1_ENST00000457812.1_Intron	p.R1132C	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3693	-			1132					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3394C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662361	0.47572	0.0	2.33E-4	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.53640	0.61;0.62	4.94	4.94	0.65067	.	0.000000	0.35903	U	0.002914	T	0.56992	0.2023	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.63368	-0.6653	10	0.72032	D	0.01	-0.6455	18.1554	0.89689	0.0:0.0:1.0:0.0	.	1132	Q70E73	RAPH1_HUMAN	C	1132;1184	ENSP00000316543:R1132C;ENSP00000363617:R1184C	ENSP00000316543:R1132C	R	-	1	0	RAPH1	204012764	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	8.854000	0.92228	2.288000	0.76882	0.563000	0.77884	CGC		0.517	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		44	54	0	0	0	1	0	44	54					A	204304519	G	A	204304519	3	1	361	1	0	0	0	0	1	0	0	0	13050	1116	39	1	362	1	RAPH1	2	204304519	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	24892316	204304519	38894854	5	33824											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	45	0	0	0	1	0	22	45					T	209113112	C	T	209113112	3	4	361	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	4808593	209113112	34086261	6	33825											
MAGI1	9223	broad.mit.edu	37	chr3	65346835	65346835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacaaattcatggagtcaTgccagggaaggaaggaatgt	14	5	2	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:65346835T>C	ENST00000497477.2	-	21	3471	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V	MAGI1_ENST00000483466.1_Missense_Mutation_p.M1254V|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|RP11-88H12.2_ENST00000602316.1_RNA			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		CATGGAGTCATGCCAGGGAAG	0.483																																						ENST00000483466.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3760-3762)Atg>Gtg		membrane associated guanylate kinase, WW and PDZ domain containing 1							120	109	113					3																	65346835		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65346835T>C	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.3472A>G	3.37:g.65346835T>C	ENSP00000424369:p.Met1158Val					MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.M1158V	p.M1254V	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4001	-		Lung NSC(201;0.0016)	0					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3760A>G		.	.	.	.	.	.	.	.	.	.	T	10.24	1.294497	0.23564	.	.	ENSG00000151276	ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T	0.16897	2.44;2.44;2.31;2.45	5.78	5.78	0.91487	.	.	.	.	.	T	0.11153	0.0272	N	0.14661	0.345	0.24055	N	0.996034	B;B	0.22080	0.064;0.0	B;B	0.16722	0.016;0.0	T	0.18650	-1.0330	9	0.38643	T	0.18	.	10.4597	0.44572	0.0:0.0721:0.0:0.9278	.	1158;1254	Q96QZ7-4;Q96QZ7-3	.;.	V	1129;1254;1158;1012	ENSP00000418177:M1129V;ENSP00000420323:M1254V;ENSP00000424369:M1158V;ENSP00000420796:M1012V	ENSP00000418177:M1129V	M	-	1	0	MAGI1	65321875	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.956000	0.56722	2.195000	0.70347	0.528000	0.53228	ATG		0.483	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		19	60	0	0	0	1	0	19	60					C	65346835	T	C	65346835	3	2	361	1	0	0	0	0	1	0	0	0	9190	1464	51	3	866	3	MAGI1	3	65346835	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		65346835	132675595	7	33826											
PCDH10	57575	broad.mit.edu	37	chr4	134072551	134072551	+	Frame_Shift_Del	DEL	C	C	-													ctacaccatcgttaccgaagCccccctggaccgagaggcgg							TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:134072551delC	ENST00000264360.5	+	1	2082	c.1256delC	c.(1255-1257)gccfs	p.A419fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	419	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(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)		GTTACCGAAGCCCCCCTGGAC	0.592																																						ENST00000264360.4																			0				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						c.(1255-1257)gcfs		protocadherin 10							152	166	161					4																	134072551		2203	4300	6503	SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072551delC	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.1256delC	4.37:g.134072551delC	ENSP00000264360:p.Ala419fs						p.A419fs	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2082	+			419			Cadherin 4.		Q4W5F6|Q96SF0	Frame_Shift_Del	DEL	ENST00000264360.5	37	c.1256delC	CCDS34063.1																																																																																				0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	429						7	429	---	---	---	---	-	134072551	C	-	134072551	7	5	361	1	0	1	0	1	0	0	0	0	11507	739	26	0	1258	0	PCDH10	4	134072551	Frame_Shift_Del	DEL	C	TCGA-P5-A5F1-01A-11D-A289-08		134072551	57081725	8	33827											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	9	0	0	0	1	0	4	9					G	149075976	T	G	149075976	2	3	361	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	15003425	149075976	42078300	9	33828											
FAM81B	153643	broad.mit.edu	37	chr5	94749873	94749873	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatcaccagcatcgtcaaAaaactcagccaaaatattga	4	12	3	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94749873A>G	ENST00000283357.5	+	4	562	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	172						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)		GCATCGTCAAAAAACTCAGCC	0.418																																						ENST00000283357.5																			0				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						c.(514-516)aaA>aaG		family with sequence similarity 81, member B							94	91	92					5																	94749873		1912	4132	6044	SO:0001819	synonymous_variant	153643							g.chr5:94749873A>G		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.516A>G	5.37:g.94749873A>G							p.K172K	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	562	+		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)	172						Silent	SNP	ENST00000283357.5	37	c.516A>G	CCDS43341.1																																																																																				0.418	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		4	92	0	0	0	1	0	4	92					G	94749873	A	G	94749873	2	3	361	1	0	0	0	0	0	0	0	1	5629	11	1	3		3	FAM81B	5	94749873	Silent	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08		94749873	86165387	10	33829											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			12	193						12	193	---	---	---	---	A	31939830	-	A	31939829	7	5	361	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		31939829	139175238	11	33830											
BRPF3	27154	broad.mit.edu	37	chr6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagctcaaggcggggTgagtggctccctcaagggag	18	9	2	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					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						CAAGGCGGGGTGAGTGGCTCC	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1309-1311)gTg>gGg		bromodomain and PHD finger containing, 3							78	82	81					6																	36169409		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36169409T>G	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.1310T>G	6.37:g.36169409T>G	ENSP00000350267:p.Val437Gly					BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G	p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	1563	+			437					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1310T>G	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	T	0.784	-0.761217	0.02996	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.16196	2.55;2.47;2.47;2.47;2.47;2.36	5.39	0.376	0.16193	.	1.130890	0.06499	N	0.735957	T	0.01870	0.0059	N	0.04508	-0.205	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46091	-0.9216	10	0.22706	T	0.39	.	4.7221	0.12924	0.159:0.4172:0.0:0.4238	.	437;437;437	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	G	437	ENSP00000350267:V437G;ENSP00000345419:V437G;ENSP00000434501:V437G;ENSP00000445352:V437G;ENSP00000387368:V437G;ENSP00000436504:V437G	ENSP00000345419:V437G	V	+	2	0	BRPF3	36277387	0.531000	0.26338	0.547000	0.28179	0.442000	0.32017	0.263000	0.18478	0.117000	0.18138	0.459000	0.35465	GTG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		8	35	0	0	0	1	0	8	35					G	36169409	T	G	36169409	3	3	361	1	0	0	0	0	1	0	0	0	1521	1696	59	5	1312	5	BRPF3	6	36169409	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	4229580	36169409	134945658	12	33831											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	12	0	0	0	1	0	5	12					G	41790659	T	G	41790659	2	3	361	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		41790659	104573363	13	33832											
PITRM1	10531	broad.mit.edu	37	chr10	3190474	3190474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggtagtcaagaaggccGcagcccagcctgacacagca	11	15	1	2	rs372900610		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:3190474G>A	ENST00000224949.4	-	17	1915	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	PITRM1_ENST00000380989.2_Silent_p.C627C|PITRM1_ENST00000380994.1_Silent_p.C185C|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	627					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CAAGAAGGCCGCAGCCCAGCC	0.517																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1879-1881)tgC>tgT		pitrilysin metallopeptidase 1		G	,,	1,4043		0,1,2021	58	65	62		1881,,1881	-7.3	0.6	10		62	0,8358		0,0,4179	no	coding-synonymous,intron,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	0,1,6200	AA,AG,GG		0.0,0.0247,0.0081	,,	627/1039,,627/1038	3190474	1,12401	2022	4179	6201	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3190474G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1881C>T	10.37:g.3190474G>A						PITRM1_ENST00000224949.4_Silent_p.C627C|PITRM1_ENST00000380994.1_Silent_p.C185C|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA	p.C627C	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			17	1919	-			0					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.1881C>T	CCDS59208.1																																																																																				0.517	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			4	145	0	0	0	1	0	4	145					A	3190474	G	A	3190474	2	1	361	1	0	0	0	0	0	0	0	1	11953	1079	38	1		1	PITRM1	10	3190474	Silent	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		3190474	132344273	14	33833											
CRTAC1	55118	broad.mit.edu	37	chr10	99683121	99683121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttcccaccggttattgCggaacttgaacaacttgtcg	9	11	1	1	rs371860011		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:99683121C>T	ENST00000370597.3	-	4	813	c.458G>A	c.(457-459)cGc>cAc	p.R153H	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R153H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R153H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	153						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGGTTATTGCGGAACTTGAA	0.587																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(457-459)cGc>cAc		cartilage acidic protein 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114	87	96		458,458	5.2	1	10		96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	153/646,153/662	99683121	2,13004	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99683121C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.458G>A	10.37:g.99683121C>T	ENSP00000359629:p.Arg153His					CRTAC1_ENST00000298819.4_Missense_Mutation_p.R153H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R153H	p.R153H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	4	813	-		Colorectal(252;0.24)	153					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.458G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930957	0.92389	0.0	2.33E-4	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	L	0.59912	1.85	0.80722	D	1	P;P	0.35551	0.494;0.509	B;B	0.28709	0.093;0.081	T	0.05115	-1.0905	10	0.35671	T	0.21	-17.799	18.66	0.91469	0.0:1.0:0.0:0.0	.	153;153	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	H	49;153;153;145;153	ENSP00000408445:R49H;ENSP00000359629:R153H;ENSP00000298819:R153H;ENSP00000310810:R145H;ENSP00000359623:R153H	ENSP00000298819:R153H	R	-	2	0	CRTAC1	99673111	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.552000	0.82192	2.419000	0.82065	0.563000	0.77884	CGC		0.587	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		4	114	0	0	0	1	0	4	114					T	99683121	C	T	99683121	3	4	361	1	0	0	0	0	1	0	0	0	3896	768	27	1	1575	1	CRTAC1	10	99683121	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	96492647	99683121	35851626	15	33834											
COL17A1	1308	broad.mit.edu	37	chr10	105836081	105836081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatacgcatggcgggtaacGtgagttttcctttcaaaggt	11	8	2	1	rs202120590		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:105836081G>A	ENST00000353479.5	-	5	599	c.309C>T	c.(307-309)caC>caT	p.H103H	COL17A1_ENST00000369733.3_Silent_p.H103H|COL17A1_ENST00000393211.3_Silent_p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	103	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)		GGCGGGTAACGTGAGTTTTCC	0.507																																						ENST00000353479.5																			0				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						c.(307-309)caC>caT		collagen, type XVII, alpha 1							200	198	199					10																	105836081		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105836081G>A	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.309C>T	10.37:g.105836081G>A						COL17A1_ENST00000393211.3_Silent_p.H103H|COL17A1_ENST00000369733.3_Silent_p.H103H	p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	5	599	-		Colorectal(252;0.103)|Breast(234;0.122)	103			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.309C>T	CCDS7554.1																																																																																				0.507	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		6	156	0	0	0	1	0	6	156					A	105836081	G	A	105836081	2	1	361	1	0	0	0	0	0	0	0	1	3674	1136	40	1		1	COL17A1	10	105836081	Silent	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	6152960	105836081	29698666	16	33835											
MKI67	4288	broad.mit.edu	37	chr10	129905566	129905566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgtccactttcctgagacttCtcttggactgtggcttggag	11	11	1	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:129905566C>T	ENST00000368654.3	-	13	4913	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1513	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)				CCTGAGACTTCTCTTGGACTG	0.498																																						ENST00000368654.3																			0				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						c.(4537-4539)aGa>aAa		marker of proliferation Ki-67							292	273	280					10																	129905566		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905566C>T	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.4538G>A	10.37:g.129905566C>T	ENSP00000357643:p.Arg1513Lys					MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	p.R1513K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4913	-		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)	1513			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4538G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740612	0.30865	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02197	4.4;4.4	2.91	-0.0526	0.13821	.	0.494458	0.17864	N	0.159404	T	0.02156	0.0067	L	0.44542	1.39	0.09310	N	1	B;P;P	0.49090	0.408;0.919;0.897	B;P;P	0.46362	0.089;0.514;0.459	T	0.28713	-1.0035	10	0.06365	T	0.9	.	4.94	0.13960	0.2085:0.1868:0.6047:0.0	.	1512;1153;1513	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1513;1153;1512	ENSP00000357643:R1513K;ENSP00000357642:R1153K	ENSP00000357642:R1153K	R	-	2	0	MKI67	129795556	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.913000	0.04042	0.003000	0.14656	-0.502000	0.04539	AGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		27	332	0	0	0	1	0	27	332					T	129905566	C	T	129905566	3	4	361	1	0	0	0	0	1	0	0	0	9598	913	32	2	5244	2	MKI67	10	129905566	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	24069485	129905566	5629181	17	33836											
TRIM6	117854	broad.mit.edu	37	chr11	5624532	5624532	+	5'UTR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggcaggcaggagccaggaGagtagctacaatgacttcac	14	9	1	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:5624532G>A	ENST00000278302.5	+	0	130				TRIM6_ENST00000380107.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.R25K|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGAGCCAGGAGAGTAGCTACA	0.483																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(73-75)aGa>aAa		tripartite motif containing 6							114	86	96					11																	5624532		2201	4297	6498	SO:0001623	5_prime_UTR_variant	117854							g.chr11:5624532G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-11G>A	11.37:g.5624532G>A						TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000278302.5_5'UTR|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380107.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K	p.R25K	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	316	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.74G>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861473	0.32884	.	.	ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000380097;ENST00000337072;ENST00000354852	D;D	0.84070	-1.8;-1.8	4.4	-0.637	0.11504	.	.	.	.	.	T	0.57475	0.2056	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.47368	-0.9123	9	0.02654	T	1	.	8.416	0.32672	0.5439:0.0:0.4561:0.0	.	25;25	B2RNG4;Q9C030-2	.;.	K	25	ENSP00000369440:R25K;ENSP00000346916:R25K	ENSP00000369440:R25K	R	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5581108	0.823000	0.29233	0.001000	0.08648	0.578000	0.36192	0.166000	0.16583	-0.100000	0.12241	-0.137000	0.14449	AGA		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		11	40	0	0	0	1	0	11	40					A	5624532	G	A	5624532	1	1	361	0	1	0	0	0	0	0	0	0	16530	942	33	2		2	TRIM6	11	5624532	5'UTR	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		5624532	129381984	18	33837											
LRFN4	78999	broad.mit.edu	37	chr11	66627620	66627620	+	Frame_Shift_Del	DEL	G	G	-													gctgctcggggcagggtgccGgggggtaggaggcagcgccg							TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:66627620delG	ENST00000309602.4	+	2	2105	c.1862delG	c.(1861-1863)cggfs	p.R621fs	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	621						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCAGGGTGCCGGGGGGTAGGA	0.692																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1861-1863)cgfs		leucine rich repeat and fibronectin type III domain containing 4							8	12	11					11																	66627620		1948	3901	5849	SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66627620delG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28456	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 6"	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1862delG	11.37:g.66627620delG	ENSP00000312535:p.Arg621fs					LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron	p.R621fs	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	2105	+			621					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.1862delG	CCDS8153.1																																																																																				0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		2	4						2	4	---	---	---	---	-	66627620	G	-	66627620	7	5	361	1	0	1	0	1	0	0	0	0	8940	1116	39	0	1868	0	LRFN4	11	66627620	Frame_Shift_Del	DEL	G	TCGA-P5-A5F1-01A-11D-A289-08	61003088	66627620	68378896	19	33838											
FAM90A1	55138	broad.mit.edu	37	chr12	8376067	8376067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagataatcagaagattccGtggatcctttttgatttggc	9	7	2	4	rs150256213		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr12:8376067G>A	ENST00000538603.1	-	6	968	c.410C>T	c.(409-411)aCg>aTg	p.T137M	FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	137							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGAAGATTCCGTGGATCCTTT	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(409-411)aCg>aTg		family with sequence similarity 90, member A1		G	MET/THR	0,4406		0,0,2203	52	63	59		410	-2.1	0	12	dbSNP_134	59	2,8598		0,2,4298	no	missense	FAM90A1	NM_018088.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	137/465	8376067	2,13004	2203	4300	6503	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8376067G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.410C>T	12.37:g.8376067G>A	ENSP00000445418:p.Thr137Met					FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	6	968	-			137					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.410C>T	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	2.487	-0.318425	0.05386	0.0	2.33E-4	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15139	2.45;2.45	1.06	-2.12	0.07165	.	.	.	.	.	T	0.26484	0.0647	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17198	-1.0377	9	0.52906	T	0.07	-6.227	3.5522	0.07851	0.2106:0.0:0.5564:0.233	.	137	Q86YD7	F90A1_HUMAN	M	137	ENSP00000307798:T137M;ENSP00000445418:T137M	ENSP00000307798:T137M	T	-	2	0	FAM90A1	8267334	0.003000	0.15002	0.000000	0.03702	0.009000	0.06853	-0.788000	0.04614	-1.805000	0.01239	-1.021000	0.02439	ACG		0.527	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		22	50	0	0	0	1	0	22	50					A	8376067	G	A	8376067	3	1	361	1	0	0	0	0	1	0	0	0	5650	1145	40	1	992	1	FAM90A1	12	8376067	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		8376067	125475828	20	33839											
PABPC3	5042	broad.mit.edu	37	chr13	25671681	25671681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaataagcccagtgctatcCgcccaggtgctcctagagta	9	12	0	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr13:25671681C>T	ENST00000281589.3	+	1	1382	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	449					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)		CAGTGCTATCCGCCCAGGTGC	0.498																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1345-1347)Cgc>Tgc		poly(A) binding protein, cytoplasmic 3							123	122	122					13																	25671681		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671681C>T	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.1345C>T	13.37:g.25671681C>T	ENSP00000281589:p.Arg449Cys						p.R449C	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		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)	1	1382	+		Lung SC(185;0.0225)|Breast(139;0.0602)	449					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1345C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455897	0.12283	.	.	ENSG00000151846	ENST00000281589	T	0.30448	1.53	0.875	-1.75	0.08031	.	0.132256	0.32987	N	0.005420	T	0.19005	0.0456	L	0.39397	1.21	0.53688	D	0.999974	B	0.13594	0.008	B	0.08055	0.003	T	0.02852	-1.1102	10	0.46703	T	0.11	.	5.4207	0.16398	0.0:0.5857:0.0:0.4143	.	449	Q9H361	PABP3_HUMAN	C	449	ENSP00000281589:R449C	ENSP00000281589:R449C	R	+	1	0	PABPC3	24569681	1.000000	0.71417	0.899000	0.35326	0.034000	0.12701	3.257000	0.51500	-0.692000	0.05128	-0.671000	0.03813	CGC		0.498	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		4	188	0	0	0	1	0	4	188					T	25671681	C	T	25671681	3	4	361	1	0	0	0	0	1	0	0	0	11365	652	23	1	1347	1	PABPC3	13	25671681	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		25671681	89498197	21	33840											
NYNRIN	57523	broad.mit.edu	37	chr14	24884572	24884572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcccccagtcaggggGtgacagcccctatgctgtgg	15	14	1	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr14:24884572G>A	ENST00000382554.3	+	9	3935	c.3617G>A	c.(3616-3618)gGt>gAt	p.G1206D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1206					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						CAGTCAGGGGGTGACAGCCCC	0.617																																						ENST00000382554.3																			0				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						c.(3616-3618)gGt>gAt		NYN domain and retroviral integrase containing							65	70	69					14																	24884572		1910	4106	6016	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884572G>A	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.3617G>A	14.37:g.24884572G>A	ENSP00000371994:p.Gly1206Asp						p.G1206D	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3935	+			1206					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3617G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083763	0.55861	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	4.6	4.6	0.57074	.	.	.	.	.	T	0.20129	0.0484	L	0.27053	0.805	0.30574	N	0.76318	D	0.89917	1.0	D	0.72075	0.976	T	0.02126	-1.1209	9	0.52906	T	0.07	.	12.7777	0.57457	0.0:0.0:1.0:0.0	.	1206	Q9P2P1	NYNRI_HUMAN	D	1206	ENSP00000371994:G1206D	ENSP00000371994:G1206D	G	+	2	0	NYNRIN	23954412	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.387000	0.59626	2.371000	0.80710	0.655000	0.94253	GGT		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			63	96	0	0	0	1	0	63	96					A	24884572	G	A	24884572	3	1	361	1	0	0	0	0	1	0	0	0	10796	1261	44	2	3647	2	NYNRIN	14	24884572	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		24884572	82464968	22	33841											
TFAP4	7023	broad.mit.edu	37	chr16	4308138	4308138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcggagtcggaggcgGtgtcagaggtgggggcctcc	20	10	1	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:4308138G>A	ENST00000204517.6	-	7	1263	c.935C>T	c.(934-936)aCc>aTc	p.T312I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	312					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTCGGAGGCGGTGTCAGAGGT	0.692																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(934-936)aCc>aTc		transcription factor AP-4 (activating enhancer binding protein 4)							31	35	34					16																	4308138		2197	4298	6495	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4308138G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.935C>T	16.37:g.4308138G>A	ENSP00000204517:p.Thr312Ile						p.T312I	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			7	1263	-			312					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.935C>T	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982744	0.74474	.	.	ENSG00000090447	ENST00000204517	D	0.99220	-5.58	4.57	4.57	0.56435	.	0.067147	0.56097	D	0.000021	D	0.98191	0.9402	L	0.57536	1.79	0.53688	D	0.999977	P	0.45348	0.856	B	0.40444	0.329	D	0.99881	1.1113	10	0.87932	D	0	.	17.2038	0.86913	0.0:0.0:1.0:0.0	.	312	Q01664	TFAP4_HUMAN	I	312	ENSP00000204517:T312I	ENSP00000204517:T312I	T	-	2	0	TFAP4	4248139	1.000000	0.71417	0.902000	0.35471	0.705000	0.40729	9.037000	0.93765	2.376000	0.81061	0.585000	0.79938	ACC		0.692	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		5	85	0	0	0	1	0	5	85					A	4308138	G	A	4308138	3	1	361	1	0	0	0	0	1	0	0	0	15789	1261	44	2	85	2	TFAP4	16	4308138	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		4308138	86046615	23	33842											
TNRC6A	27327	broad.mit.edu	37	chr16	24800571	24800571	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agatataaaccacagtacttCaggatcccattatgaaaatt	5	8	1	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:24800571C>G	ENST00000395799.3	+	6	737	c.608C>G	c.(607-609)tCa>tGa	p.S203*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	203	Interaction with argonaute family proteins.|Ser-rich.				cellular response to starvation (GO:0009267)|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)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CACAGTACTTCAGGATCCCAT	0.353																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(607-609)tCa>tGa		trinucleotide repeat containing 6A							42	42	42					16																	24800571		1902	4154	6056	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800571C>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.608C>G	16.37:g.24800571C>G	ENSP00000379144:p.Ser203*					TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	737	+			203			Ser-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.608C>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	38	6.737612	0.97801	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	.	.	.	5.92	4.88	0.63580	.	0.413435	0.23393	N	0.048670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-7.1815	3.9256	0.09262	0.0:0.6828:0.0:0.3172	.	.	.	.	X	203	.	ENSP00000326900:S203X	S	+	2	0	TNRC6A	24708072	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.121000	0.57904	2.809000	0.96659	0.467000	0.42956	TCA		0.353	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		5	67	0	0	0	1	0	5	67					G	24800571	C	G	24800571	4	3	361	1	0	0	0	0	0	1	0	0	16337	838	29	4	630	4	TNRC6A	16	24800571	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	20492433	24800571	65554182	24	33843											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577158	+	Splice_Site	DEL	TA	TA	-													ccgtcccagtagattaccacTactcaggataggaaaagaga							TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7577157_7577158delTA	ENST00000269305.4	-	8	972		c.e8-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(12)|p.0?(8)|p.E258fs*71(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)	AGATTACCACTACTCAGGATAG	0.515		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		21	Unknown(12)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(12)|p.0?(8)|p.E258fs*71(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|ovary(2)|urinary_tract(1)|oesophagus(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						c.e8-2	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577157_7577158delTA	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.783-2TA>-	17.37:g.7577157_7577158delTA		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)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.515	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	3	6						3	6	---	---	---	---	-	7577158	TA	-	7577157	8	5	361	1	0	1	0	1	0	0	1	0	16378	1536	53	0	505	0	TP53	17	7577157	Splice_Site	DEL	TA	TCGA-P5-A5F1-01A-11D-A289-08		7577157	73618053	25	33844											
TP53	7157	broad.mit.edu	37	chr17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggggtgtggaatcaacCcacagctgcacagggcaggt	17	10	1	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7578492C>T	ENST00000269305.4	-	5	627	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000574684.1_5'Flank	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	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)	TGGAATCAACCCACAGCTGCA	0.602		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		65	Substitution - Nonsense(45)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(2)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(1)	lung(9)|liver(8)|breast(7)|large_intestine(6)|upper_aerodigestive_tract(5)|endometrium(5)|central_nervous_system(4)|oesophagus(4)|ovary(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|pancreas(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						c.(436-438)tgG>tgA	Other conserved DNA damage response genes	tumor protein p53							58	57	57					17																	7578492		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578492C>T	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.438G>A	17.37:g.7578492C>T	ENSP00000269305:p.Trp146*	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)				TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*	p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	146		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.438G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653238	0.47362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	4.52	0.55395	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	7.2875	0.26348	0.1676:0.7467:0.0:0.0857	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	3	0	TP53	7519217	0.545000	0.26449	0.478000	0.27316	0.067000	0.16453	1.174000	0.31932	1.452000	0.47756	0.655000	0.94253	TGG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	60	0	0	0	1	0	28	60					T	7578492	C	T	7578492	4	4	361	1	0	0	0	0	0	1	0	0	16378	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	1335	7578492	73616718	26	33845											
ACACA	31	broad.mit.edu	37	chr17	35545360	35545360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagttctgcctggaggaCgcgcaatttccacaggcgac	11	12	2	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:35545360C>T	ENST00000394406.2	-	39	4712	c.4522G>A	c.(4522-4524)Gtc>Atc	p.V1508I	ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000353139.5_Missense_Mutation_p.V1545I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1508					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)	GCCTGGAGGACGCGCAATTTC	0.483																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				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						c.(4633-4635)Gtc>Atc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						191	171	177					17																	35545360		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35545360C>T	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.4522G>A	17.37:g.35545360C>T	ENSP00000377928:p.Val1508Ile					ACACA_ENST00000394406.2_Missense_Mutation_p.V1508I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I	p.V1545I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			39	5114	-		Breast(25;0.00157)|Ovarian(249;0.15)	1508					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4633G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961595	0.92791	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.49	5.49	0.81192	Acetyl-CoA carboxylase, central domain (1);	0.060935	0.64402	D	0.000005	T	0.78578	0.4305	M	0.83953	2.67	0.80722	D	1	D;D;D;P	0.58970	0.984;0.979;0.959;0.891	P;P;P;B	0.51866	0.682;0.643;0.604;0.351	T	0.80509	-0.1351	10	0.46703	T	0.11	-16.66	18.9743	0.92730	0.0:1.0:0.0:0.0	.	256;1545;1508;1450	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	I	1545;1450;1508;1532;1430;256	ENSP00000344789:V1545I;ENSP00000353898:V1450I;ENSP00000377928:V1508I;ENSP00000335323:V1430I	ENSP00000335323:V1430I	V	-	1	0	ACACA	32619473	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GTC		0.483	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	61	0	0	0	1	0	20	61					T	35545360	C	T	35545360	3	4	361	1	0	0	0	0	1	0	0	0	106	536	19	1	2590	1	ACACA	17	35545360	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	27966868	35545360	45649850	27	33846											
TNS4	84951	broad.mit.edu	37	chr17	38645118	38645118	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaggaggaggccaccActgcgaagggagccgaaggg	18	9	0	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:38645118A>G	ENST00000254051.6	-	3	701	c.543T>C	c.(541-543)agT>agC	p.S181S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	181	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)			GGAGGCCACCACTGCGAAGGG	0.642																																						ENST00000254051.6																			0				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						c.(541-543)agT>agC		tensin 4							49	61	57					17																	38645118		2201	4298	6499	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645118A>G	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.543T>C	17.37:g.38645118A>G							p.S181S	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	701	-		Breast(137;0.000496)	181			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.543T>C	CCDS11368.1																																																																																				0.642	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		6	153	0	0	0	1	0	6	153					G	38645118	A	G	38645118	2	3	361	1	0	0	0	0	0	0	0	1	16342	156	6	3		3	TNS4	17	38645118	Silent	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	3099758	38645118	42550092	28	33847											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043851	77043851	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcgtgaacctctacgAccacttcaacatgttcaccg	8	13	3	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:77043851A>C	ENST00000339142.2	+	5	1082	c.527A>C	c.(526-528)gAc>gCc	p.D176A	C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				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)			AACCTCTACGACCACTTCAAC	0.562																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(526-528)gAc>gCc		C1q and tumor necrosis factor related protein 1							166	151	156					17																	77043851		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77043851A>C	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.527A>C	17.37:g.77043851A>C	ENSP00000340864:p.Asp176Ala					C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A	p.D176A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		5	1082	+			176			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.527A>C	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965837	0.34659	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.22945	1.93;1.93;1.93	4.72	3.73	0.42828	Tumour necrosis factor-like (2);Complement C1q protein (4);	1.337000	0.04802	N	0.433541	T	0.21267	0.0512	N	0.19112	0.55	0.09310	N	1	B;B;B	0.16603	0.018;0.018;0.005	B;B;B	0.25987	0.065;0.04;0.016	T	0.34625	-0.9821	10	0.52906	T	0.07	.	7.5486	0.27781	0.3757:0.0:0.6243:0.0	.	186;186;176	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	A	176;94;186;176;186	ENSP00000340864:D176A;ENSP00000311265:D94A;ENSP00000343230:D186A	ENSP00000311265:D94A	D	+	2	0	C1QTNF1	74555446	0.994000	0.37717	0.937000	0.37676	0.939000	0.58152	1.949000	0.40313	0.397000	0.25310	-0.215000	0.12644	GAC		0.562	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		64	115	0	0	0	1	0	64	115					C	77043851	A	C	77043851	3	2	361	1	0	0	0	0	1	0	0	0	1962	275	10	5	537	5	C1QTNF1	17	77043851	Missense_Mutation	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	38398733	77043851	4151359	29	33848											
ZNF260	339324	broad.mit.edu	37	chr19	37005409	37005409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacacgtataaggtttctcTcctgtgtgacttctctggtg	9	9	2	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:37005409T>C	ENST00000523638.1	-	3	1853	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ZNF260_ENST00000593142.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G|ZNF260_ENST00000588993.1_Silent_p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	244					multicellular organismal development (GO:0007275)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGTTTCTCTCCTGTGTGAC	0.413																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(730-732)ggA>ggG		zinc finger protein 260							117	115	116					19																	37005409		2203	4300	6503	SO:0001819	synonymous_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005409T>C	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.732A>G	19.37:g.37005409T>C						ZNF260_ENST00000588993.1_Silent_p.G244G|ZNF260_ENST00000593142.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G	p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	1853	-	Esophageal squamous(110;0.162)		244					Q0VF43	Silent	SNP	ENST00000523638.1	37	c.732A>G	CCDS33003.1																																																																																				0.413	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		32	67	0	0	0	1	0	32	67					C	37005409	T	C	37005409	2	2	361	1	0	0	0	0	0	0	0	1	17799	1538	54	3		3	ZNF260	19	37005409	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		37005409	22123574	30	33849											
PEG3	5178	broad.mit.edu	37	chr19	57325168	57325168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgctggtgctggcacGttcgatgtagcctgagcact	13	11	0	1	rs576263292		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:57325168G>A	ENST00000326441.9	-	10	5005	c.4642C>T	c.(4642-4644)Cgt>Tgt	p.R1548C	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1548					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)		GTGCTGGCACGTTCGATGTAG	0.522																																						ENST00000326441.9																			0				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						c.(4642-4644)Cgt>Tgt		paternally expressed 3							150	128	135					19																	57325168		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325168G>A	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.4642C>T	19.37:g.57325168G>A	ENSP00000326581:p.Arg1548Cys					ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|ZIM2_ENST00000599935.1_Intron	p.R1548C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	5005	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1548					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4642C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194066	0.22037	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02944	4.1;4.1	3.97	2.94	0.34122	.	1.335950	0.05106	N	0.488052	T	0.02533	0.0077	N	0.08118	0	.	.	.	D;P;B	0.63880	0.993;0.83;0.013	B;B;B	0.44315	0.446;0.092;0.002	T	0.43343	-0.9397	9	0.62326	D	0.03	-2.2214	7.263	0.26214	0.1179:0.0:0.8821:0.0	.	1424;1548;1483	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	1548	ENSP00000326581:R1548C;ENSP00000403051:R1548C	ENSP00000326581:R1548C	R	-	1	0	ZIM2	62016980	0.010000	0.17322	0.001000	0.08648	0.800000	0.45204	1.887000	0.39698	1.258000	0.44101	0.591000	0.81541	CGT		0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			20	75	0	0	0	1	0	20	75					A	57325168	G	A	57325168	3	1	361	1	0	0	0	0	1	0	0	0	11720	1145	40	1	128	1	PEG3	19	57325168	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	20319759	57325168	1803815	31	33850											
TCP10L	140290	broad.mit.edu	37	chr21	33954533	33954533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgcgattcttgccccgCgtgtggggacgctgcagatt	15	10	1	1	rs200974337		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:33954533C>T	ENST00000300258.3	-	3	450	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	AP000275.65_ENST00000553001.1_Missense_Mutation_p.A287T|TCP10L_ENST00000472557.1_Missense_Mutation_p.A27T	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	113					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						TCTTGCCCCGCGTGTGGGGAC	0.498																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(337-339)Gcg>Acg		t-complex 10-like							134	127	130					21																	33954533		2203	4300	6503	SO:0001583	missense	140290							g.chr21:33954533C>T	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.337G>A	21.37:g.33954533C>T	ENSP00000300258:p.Ala113Thr					TCP10L_ENST00000491828.1_5'UTR	p.A113T	NM_144659.5	NP_653260.1					3	450	-								Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	37	c.337G>A	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	C	6.457	0.452389	0.12283	.	.	ENSG00000242220;ENSG00000159079	ENST00000300258;ENST00000553001	T;T	0.17691	2.26;2.26	0.591	-1.13	0.09775	.	.	.	.	.	T	0.13200	0.0320	M	0.62723	1.935	0.09310	N	1	B;P	0.38020	0.013;0.615	B;B	0.31337	0.001;0.128	T	0.13872	-1.0493	7	.	.	.	.	.	.	.	.	287;113	F8VZ95;Q8TDR4	.;TCP1L_HUMAN	T	113;287	ENSP00000300258:A113T;ENSP00000446874:A287T	.	A	-	1	0	C21orf59;TCP10L	32876404	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.052000	0.14163	-0.463000	0.06973	-0.474000	0.04947	GCG		0.498	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		57	112	0	0	0	1	0	57	112					T	33954533	C	T	33954533	3	4	361	1	0	0	0	0	1	0	0	0	15708	768	27	1	322	1	TCP10L	21	33954533	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		33954533	14175362	32	33851											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	8	9	3	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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						GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1960-1962)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						130	138	135					X																	76938788		2203	4291	6494	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938788G>A	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.1960C>T	X.37:g.76938788G>A	ENSP00000362441:p.Arg654*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	p.R654*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2174	-			654					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1960C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694384	0.98438	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.33	3.4	0.38934	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0998	12.9298	0.58280	0.0:0.0:0.4977:0.5023	.	.	.	.	X	654;616;581	.	ENSP00000362441:R654X	R	-	1	2	ATRX	76825444	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.691000	0.37721	0.971000	0.38288	0.513000	0.50165	CGA		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		88	40	0	0	0	1	0	88	40					A	76938788	G	A	76938788	4	1	361	1	0	0	0	0	0	1	0	0	1208	1066	37	1	5626	1	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		76938788	78331772	33	33852											
PADI2	11240	broad.mit.edu	37	chr1	17418910	17418910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatcactcactctccacGtagaacacgcccactttgtc	7	15	3	1	rs532169977		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:17418910G>A	ENST00000375486.4	-	6	711	c.648C>T	c.(646-648)taC>taT	p.Y216Y	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.Y216Y	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	216					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACTCTCCACGTAGAACACGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18651	0.0		0.001	False		,,,				2504	0.0					ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(646-648)taC>taT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						115	98	104					1																	17418910		2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17418910G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.648C>T	1.37:g.17418910G>A						PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.Y216Y	p.Y216Y	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	6	711	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	216					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.648C>T	CCDS177.1																																																																																				0.577	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			28	41	0	0	0	1	0	28	41					A	17418910	G	A	17418910	2	1	362	1	0	0	0	0	0	0	0	1	11378	1140	40	1		1	PADI2	1	17418910	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		17418910	231831711	1	33853											
KTI12	112970	broad.mit.edu	37	chr1	52499413	52499413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgctgtacggcagcccGcaaaacaccacgagcggcat	11	15	0	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:52499413G>A	ENST00000371614.1	-	1	75	c.21C>T	c.(19-21)tgC>tgT	p.C7C	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	7							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ACGGCAGCCCGCAAAACACCA	0.672																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(19-21)tgC>tgT		KTI12 homolog, chromatin associated (S. cerevisiae)							11	11	11					1																	52499413		2174	4243	6417	SO:0001819	synonymous_variant	112970						ATP binding	g.chr1:52499413G>A		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.21C>T	1.37:g.52499413G>A						RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	p.C7C	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	75	-			7						Silent	SNP	ENST00000371614.1	37	c.21C>T	CCDS562.1																																																																																				0.672	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		3	26	0	0	0	1	0	3	26					A	52499413	G	A	52499413	2	1	362	1	0	0	0	0	0	0	0	1	8584	1079	38	1		1	KTI12	1	52499413	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	35080503	52499413	196751208	2	33854											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920805	155920805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcctgctcactctcccGgagccgggcctccaggctgc	13	19	2	0	rs371193783		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:155920805G>A	ENST00000361247.4	-	20	2617	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R839W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R812W|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R885W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R841W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R812W	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	840					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)					TCACTCTCCCGGAGCCGGGCC	0.706																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(2434-2436)Cgg>Tgg		Rho/Rac guanine nucleotide exchange factor (GEF) 2		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4343		0,1,2171	9	10	10		2518,2515,2434	4.2	0.9	1		10	0,8480		0,0,4240	no	missense,missense,missense	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	101,101,101	0,1,6411	AA,AG,GG		0.0,0.023,0.0078	probably-damaging,probably-damaging,probably-damaging	840/987,839/986,812/959	155920805	1,12823	2172	4240	6412	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155920805G>A	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.2518C>T	1.37:g.155920805G>A	ENSP00000354837:p.Arg840Trp					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R840W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R839W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R841W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R812W	p.R812W			Q92974	ARHG2_HUMAN			24	2904	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		840					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.2434C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715917	0.48622	2.3E-4	0.0	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.12	4.2	0.49525	.	0.158466	0.29940	N	0.010804	T	0.07188	0.0182	N	0.24115	0.695	0.37079	D	0.898907	B;B;B;B	0.11235	0.004;0.0;0.001;0.004	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.05937	-1.0855	10	0.87932	D	0	-17.8541	6.6522	0.22969	0.09:0.0:0.7349:0.1751	.	884;840;839;841	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	W	812;840;841;812;839	ENSP00000315325:R812W;ENSP00000354837:R840W;ENSP00000357298:R841W;ENSP00000357299:R812W;ENSP00000314787:R839W	ENSP00000314787:R839W	R	-	1	2	ARHGEF2	154187429	0.447000	0.25673	0.934000	0.37439	0.992000	0.81027	1.527000	0.35975	1.376000	0.46267	0.655000	0.94253	CGG		0.706	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		17	15	0	0	0	1	0	17	15					A	155920805	G	A	155920805	3	1	362	1	0	0	0	0	1	0	0	0	903	1115	39	1	454	1	ARHGEF2	1	155920805	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	103421392	155920805	93329816	3	33855											
IL1RL1	9173	broad.mit.edu	37	chr2	102968090	102968090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaataaggagtttgcctaCgagcaggaggttgccctgca	12	10	0	0	rs112596146		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:102968090C>T	ENST00000233954.1	+	11	1651	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	460	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.Y460Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGTTTGCCTACGAGCAGGAGG	0.527																																						ENST00000233954.1																			1	Substitution - coding silent(1)	p.Y460Y(1)	lung(1)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1378-1380)taC>taT		interleukin 1 receptor-like 1							92	81	85					2																	102968090		2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968090C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1380C>T	2.37:g.102968090C>T							p.Y460Y	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			11	1651	+			460			TIR.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1380C>T	CCDS2057.1																																																																																				0.527	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		32	57	0	0	0	1	0	32	57					T	102968090	C	T	102968090	2	4	362	1	0	0	0	0	0	0	0	1	7663	547	19	1		1	IL1RL1	2	102968090	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		102968090	140231283	4	33856											
HECW2	57520	broad.mit.edu	37	chr2	197189831	197189831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcttaagataagggtcaGgattgaagaacatccctttc	8	8	2	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:197189831G>A	ENST00000260983.3	-	6	796	c.614C>T	c.(613-615)cCt>cTt	p.P205L	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	205	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATAAGGGTCAGGATTGAAGAA	0.493																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(613-615)cCt>cTt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							190	172	178					2																	197189831		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197189831G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.614C>T	2.37:g.197189831G>A	ENSP00000260983:p.Pro205Leu					HECW2_ENST00000409111.1_Intron	p.P205L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			6	796	-			205			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.614C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155805	0.94686	.	.	ENSG00000138411	ENST00000260983	T	0.69561	-0.41	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.169358	0.53938	D	0.000050	D	0.82554	0.5062	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82655	-0.0350	9	.	.	.	.	18.9309	0.92564	0.0:0.0:1.0:0.0	.	205	Q9P2P5	HECW2_HUMAN	L	205	ENSP00000260983:P205L	.	P	-	2	0	HECW2	196898076	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.145000	0.94634	2.699000	0.92147	0.655000	0.94253	CCT		0.493	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		4	164	0	0	0	1	0	4	164					A	197189831	G	A	197189831	3	1	362	1	0	0	0	0	1	0	0	0	7043	1000	35	2	4200	2	HECW2	2	197189831	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	94221741	197189831	46009542	5	33857											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	37	0	0	0	1	0	23	37					T	209113112	C	T	209113112	3	4	362	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	11923281	209113112	34086261	6	33858											
OBSL1	23363	broad.mit.edu	37	chr2	220432495	220432495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctaaaggtgacctcGccagcatcctctcgggtgac	11	15	1	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:220432495G>A	ENST00000404537.1	-	3	1535	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Silent_p.G493G|OBSL1_ENST00000373873.4_Silent_p.G493G|OBSL1_ENST00000265318.4_Silent_p.G493G|OBSL1_ENST00000603926.1_Silent_p.G493G|OBSL1_ENST00000289656.3_Silent_p.G80G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	493					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)		AGGTGACCTCGCCAGCATCCT	0.627																																						ENST00000404537.1																			0											c.(1477-1479)ggC>ggT		obscurin-like 1							58	65	63					2																	220432495		2158	4262	6420	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432495G>A	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.1479C>T	2.37:g.220432495G>A						OBSL1_ENST00000603926.1_Silent_p.G493G|OBSL1_ENST00000289656.3_Silent_p.G80G|OBSL1_ENST00000373873.4_Silent_p.G493G|OBSL1_ENST00000265318.4_Silent_p.G493G|OBSL1_ENST00000373876.1_Silent_p.G493G	p.G493G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	3	1535	-		Renal(207;0.0376)	493					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.1479C>T	CCDS46520.1																																																																																				0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			4	88	0	0	0	1	0	4	88					A	220432495	G	A	220432495	2	1	362	1	0	0	0	0	0	0	0	1	10813	1074	38	1		1	OBSL1	2	220432495	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	11319383	220432495	22766878	7	33859											
HDAC4	9759	broad.mit.edu	37	chr2	240111713	240111713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaactggtggtccaggCgcaggtccatgggcactgcc	16	11	0	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:240111713C>T	ENST00000345617.3	-	4	946	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HDAC4_ENST00000541256.1_Missense_Mutation_p.R21H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	52					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|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)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGTCCAGGCGCAGGTCCAT	0.667																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(154-156)cGc>cAc		histone deacetylase 4							22	24	23					2																	240111713		2203	4298	6501	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240111713C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.155G>A	2.37:g.240111713C>T	ENSP00000264606:p.Arg52His					HDAC4_ENST00000541256.1_Missense_Mutation_p.R21H	p.R52H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	4	946	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	52					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.155G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870086	0.91587	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.66638	-0.22;0.57;-0.13;-0.12	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.68593	2.085	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	0.91635	0.991;0.999;0.996;0.991;0.925	T	0.80815	-0.1214	9	.	.	.	.	17.724	0.88360	0.0:1.0:0.0:0.0	.	47;21;21;20;52	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	H	52;21;21;25	ENSP00000264606:R52H;ENSP00000443057:R21H;ENSP00000405226:R21H;ENSP00000392912:R25H	.	R	-	2	0	HDAC4	239776650	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.002000	0.76304	2.274000	0.75844	0.650000	0.86243	CGC		0.667	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		7	59	0	0	0	1	0	7	59					T	240111713	C	T	240111713	3	4	362	1	0	0	0	0	1	0	0	0	7009	768	27	1	3195	1	HDAC4	2	240111713	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	19679218	240111713	3087660	8	33860											
RRP9	9136	broad.mit.edu	37	chr3	51967796	51967796	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgttgataaaacccAcctgagcagaaagacaacac	9	10	0	5			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:51967796A>C	ENST00000232888.6	-	14	1335	c.1262T>G	c.(1261-1263)gTg>gGg	p.V421G		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GATAAAACCCACCTGAGCAGA	0.572																																						ENST00000232888.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21						c.e14-1		ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)							121	127	125					3																	51967796		2203	4300	6503	SO:0001630	splice_region_variant	9136				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	g.chr3:51967796A>C	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1261-1T>G	3.37:g.51967796A>C							p.V421_splice	NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)	14	1335	-			421					B2R996|Q8IZ30	Splice_Site	SNP	ENST00000232888.6	37	c.1260_splice	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740545	0.49045	.	.	ENSG00000114767	ENST00000232888	T	0.80824	-1.42	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.358918	0.29760	N	0.011271	T	0.68732	0.3033	L	0.37561	1.115	0.80722	D	1	P	0.38020	0.615	B	0.28011	0.085	T	0.68062	-0.5508	10	0.23302	T	0.38	-22.0595	14.3321	0.66564	1.0:0.0:0.0:0.0	.	421	O43818	U3IP2_HUMAN	G	421	ENSP00000232888:V421G	ENSP00000232888:V421G	V	-	2	0	RRP9	51942836	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.160000	0.64929	2.030000	0.59900	0.379000	0.24179	GTG		0.572	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704	Missense_Mutation	10	174	0	0	0	1	0	10	174					C	51967796	A	C	51967796	5	2	362	1	0	0	0	0	0	0	1	0	13691	173	6	5	173	5	RRP9	3	51967796	Splice_Site	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08		51967796	146054634	9	33861											
DPPA2	151871	broad.mit.edu	37	chr3	109023364	109023364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatattatcttctatgcctGgggatgggaaaatgcaggca	11	7	2	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:109023364G>A	ENST00000478945.1	-	7	1058	c.812C>T	c.(811-813)cCa>cTa	p.P271L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	271					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTATGCCTGGGGATGGGAA	0.473																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(811-813)cCa>cTa		developmental pluripotency associated 2							75	71	72					3																	109023364		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023364G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.812C>T	3.37:g.109023364G>A	ENSP00000417710:p.Pro271Leu						p.P271L	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			7	1058	-			271					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.812C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592357	0.28357	.	.	ENSG00000163530	ENST00000478945	T	0.41065	1.01	5.2	4.33	0.51752	.	0.380633	0.22794	N	0.055570	T	0.57961	0.2089	M	0.62723	1.935	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.48822	-0.9001	10	0.52906	T	0.07	-3.4992	9.3047	0.37867	0.096:0.0:0.904:0.0	.	271	Q7Z7J5	DPPA2_HUMAN	L	271	ENSP00000417710:P271L	ENSP00000417710:P271L	P	-	2	0	DPPA2	110506054	0.784000	0.28713	0.005000	0.12908	0.088000	0.18126	2.510000	0.45468	1.428000	0.47296	0.555000	0.69702	CCA		0.473	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		41	45	0	0	0	1	0	41	45					A	109023364	G	A	109023364	3	1	362	1	0	0	0	0	1	0	0	0	4734	1348	47	2	92	2	DPPA2	3	109023364	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	57055568	109023364	88999066	10	33862											
SERPINI1	5274	broad.mit.edu	37	chr3	167508340	167508340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtggacttcagtcaaaAtgtagccgtggccaactaca	9	10	3	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:167508340A>G	ENST00000295777.5	+	3	862	c.431A>G	c.(430-432)aAt>aGt	p.N144S	SERPINI1_ENST00000446050.2_Missense_Mutation_p.N144S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	144					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAGTCAAAATGTAGCCGTG	0.363																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(430-432)aAt>aGt		serpin peptidase inhibitor, clade I (neuroserpin), member 1							123	123	123					3																	167508340		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508340A>G	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"Serine (or cysteine) peptidase inhibitors"	8943	protein-coding gene	gene with protein product		602445	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.431A>G	3.37:g.167508340A>G	ENSP00000295777:p.Asn144Ser					SERPINI1_ENST00000446050.2_Missense_Mutation_p.N144S	p.N144S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			3	862	+			144					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.431A>G	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	3.049	-0.195801	0.06259	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.51	4.35	0.52113	Serpin domain (3);	0.329841	0.37530	N	0.002042	T	0.60508	0.2274	N	0.03194	-0.395	0.46823	D	0.999218	B	0.11235	0.004	B	0.06405	0.002	T	0.50659	-0.8802	10	0.20046	T	0.44	.	7.5122	0.27579	0.7546:0.0:0.2454:0.0	.	144	Q99574	NEUS_HUMAN	S	144	ENSP00000420133:N144S;ENSP00000397373:N144S;ENSP00000295777:N144S;ENSP00000420561:N144S	ENSP00000295777:N144S	N	+	2	0	SERPINI1	168991034	1.000000	0.71417	0.994000	0.49952	0.578000	0.36192	2.979000	0.49313	0.930000	0.37217	0.455000	0.32223	AAT		0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			12	55	0	0	0	1	0	12	55					G	167508340	A	G	167508340	3	3	362	1	0	0	0	0	1	0	0	0	14118	101	4	3	437	3	SERPINI1	3	167508340	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	58484976	167508340	30514090	11	33863											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830190	23830190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggcttttgctgttgaCaaatactcttcgctttattg	8	7	1	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:23830190C>T	ENST00000264867.2	-	5	709	c.590G>A	c.(589-591)tGt>tAt	p.C197Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	197					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTGTTGACAAATACTCTT	0.408																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(589-591)tGt>tAt		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							283	256	265					4																	23830190		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23830190C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.590G>A	4.37:g.23830190C>T	ENSP00000264867:p.Cys197Tyr					PPARGC1A_ENST00000509702.1_5'UTR	p.C197Y	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			5	709	-		Breast(46;0.0503)	197					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.590G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083899	0.76642	.	.	ENSG00000109819	ENST00000264867	T	0.23754	1.89	6.17	6.17	0.99709	.	0.045861	0.85682	D	0.000000	T	0.56587	0.1995	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.55566	-0.8121	10	0.87932	D	0	-8.0867	20.8794	0.99867	0.0:1.0:0.0:0.0	.	197	Q9UBK2	PRGC1_HUMAN	Y	197	ENSP00000264867:C197Y	ENSP00000264867:C197Y	C	-	2	0	PPARGC1A	23439288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.941000	0.99782	0.655000	0.94253	TGT		0.408	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		40	94	0	0	0	1	0	40	94					T	23830190	C	T	23830190	3	4	362	1	0	0	0	0	1	0	0	0	12300	478	17	2	1842	2	PPARGC1A	4	23830190	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		23830190	167324086	12	33864											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			5	4	0	0	0	1	0	5	4					G	149075976	T	G	149075976	2	3	362	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	125245786	149075976	42078300	13	33865											
GALNTL6	442117	broad.mit.edu	37	chr4	173873279	173873279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcatctctccacgggggAcatctctgcccagaaggagc	12	14	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:173873279A>G	ENST00000506823.1	+	10	1898	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	414					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						TCCACGGGGGACATCTCTGCC	0.567																																						ENST00000506823.1																			0				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						c.(1240-1242)gAc>gGc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							56	59	58					4																	173873279		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873279A>G		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.1241A>G	4.37:g.173873279A>G	ENSP00000423313:p.Asp414Gly					GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397G	p.D414G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			10	1898	+			414					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1241A>G	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.629334	0.87560	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.70282	-0.47;-0.47	5.36	5.36	0.76844	.	0.067293	0.64402	D	0.000011	D	0.87265	0.6134	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90249	0.4292	10	0.87932	D	0	.	15.6518	0.77104	1.0:0.0:0.0:0.0	.	414	Q49A17	GLTL6_HUMAN	G	414;397	ENSP00000423313:D414G;ENSP00000423827:D397G	ENSP00000423313:D414G	D	+	2	0	GALNTL6	174109854	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.251000	0.95483	2.155000	0.67459	0.391000	0.25812	GAC		0.567	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		37	80	0	0	0	1	0	37	80					G	173873279	A	G	173873279	3	3	362	1	0	0	0	0	1	0	0	0	6225	275	10	3	1275	3	GALNTL6	4	173873279	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	24797303	173873279	17280997	14	33866											
EGR1	1958	broad.mit.edu	37	chr5	137802589	137802589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtggcaacaccttgtggCccgagcccctcttcagcttg	10	15	2	0	rs137878468		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:137802589C>T	ENST00000239938.4	+	2	723	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	151					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACCTTGTGGCCCGAGCCCCT	0.637																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(451-453)Ccc>Tcc		early growth response 1		C	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	94	99	97		451	4.9	1	5	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	EGR1	NM_001964.2	74	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	151/544	137802589	2,13004	2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802589C>T	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.451C>T	5.37:g.137802589C>T	ENSP00000239938:p.Pro151Ser						p.P151S	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	723	+			151						Missense_Mutation	SNP	ENST00000239938.4	37	c.451C>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214478	0.79352	2.27E-4	1.16E-4	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.22539	1.95	4.89	4.89	0.63831	.	0.055330	0.64402	D	0.000001	T	0.28001	0.0690	L	0.47716	1.5	0.47214	D	0.999355	P	0.44139	0.827	P	0.45276	0.475	T	0.05666	-1.0871	10	0.87932	D	0	-13.5006	18.0413	0.89319	0.0:1.0:0.0:0.0	.	151	P18146	EGR1_HUMAN	S	151	ENSP00000239938:P151S	ENSP00000239938:P151S	P	+	1	0	EGR1	137830488	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.498000	0.73679	2.251000	0.74343	0.462000	0.41574	CCC		0.637	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		5	248	0	0	0	1	0	5	248					T	137802589	C	T	137802589	3	4	362	1	0	0	0	0	1	0	0	0	4971	739	26	2	457	2	EGR1	5	137802589	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		137802589	43112671	15	33867											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719479	140719479	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agattatgaggatgctacatTccatgaaattgatattgaag	9	4	0	5			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:140719479T>A	ENST00000394576.2	+	1	941	c.941T>A	c.(940-942)tTc>tAc	p.F314Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	314	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)			GATGCTACATTCCATGAAATT	0.428																																						ENST00000394576.2																			0				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						c.(940-942)tTc>tAc									159	167	165					5																	140719479		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719479T>A	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.941T>A	5.37:g.140719479T>A	ENSP00000378077:p.Phe314Tyr					PCDHGA1_ENST00000517417.1_Intron	p.F314Y	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	941	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.941T>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	0.350	-0.945410	0.02304	.	.	ENSG00000081853	ENST00000394576	T	0.01725	4.67	5.26	1.34	0.21922	Cadherin (4);Cadherin-like (1);	0.174158	0.27526	U	0.018979	T	0.01940	0.0061	L	0.60904	1.88	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.27262	0.018;0.078	T	0.49351	-0.8949	10	0.09843	T	0.71	.	3.7282	0.08482	0.2471:0.2137:0.0:0.5392	.	314;314	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Y	314	ENSP00000378077:F314Y	ENSP00000378077:F314Y	F	+	2	0	PCDHGA2	140699663	0.000000	0.05858	0.982000	0.44146	0.433000	0.31745	-1.593000	0.02096	0.051000	0.15978	-0.274000	0.10170	TTC		0.428	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		17	269	0	0	0	1	0	17	269					A	140719479	T	A	140719479	3	1	362	1	0	0	0	0	1	0	0	0	11554	1783	62	5	943	5	PCDHGA2	5	140719479	Missense_Mutation	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	2916890	140719479	40195781	16	33868											
IRF4	3662	broad.mit.edu	37	chr6	407544	407544	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacgatttaccagaacacatCagcaatccagaagattacca	5	11	1	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:407544C>T	ENST00000380956.4	+	9	1428	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	434					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGAACACATCAGCAATCCAG	0.358			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1300-1302)atC>atT		interferon regulatory factor 4							96	95	95					6																	407544		2203	4300	6503	SO:0001819	synonymous_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407544C>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1302C>T	6.37:g.407544C>T							p.I434I	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	9	1428	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	434					Q5VUI7|Q99660	Silent	SNP	ENST00000380956.4	37	c.1302C>T	CCDS4469.1																																																																																				0.358	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			17	54	0	0	0	1	0	17	54					T	407544	C	T	407544	2	4	362	1	0	0	0	0	0	0	0	1	7832	816	29	2		2	IRF4	6	407544	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		407544	170707523	17	33869											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			9	205						9	205	---	---	---	---	A	31939830	-	A	31939829	7	5	362	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	31532285	31939829	139175238	18	33870											
FKBP5	2289	broad.mit.edu	37	chr6	35547956	35547956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccatctctaaccaggacaCtatcttcccatactgaatca	3	14	3	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:35547956C>A	ENST00000539068.1	-	9	1085	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	FKBP5_ENST00000540787.1_Missense_Mutation_p.V116L|FKBP5_ENST00000536438.1_Missense_Mutation_p.V295L|FKBP5_ENST00000357266.4_Missense_Mutation_p.V295L	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	295					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AACCAGGACACTATCTTCCCA	0.433																																						ENST00000536438.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(883-885)Gtg>Ttg		FK506 binding protein 5							187	178	181					6																	35547956		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35547956C>A	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.883G>T	6.37:g.35547956C>A	ENSP00000441205:p.Val295Leu					FKBP5_ENST00000540787.1_Missense_Mutation_p.V116L|FKBP5_ENST00000539068.1_Missense_Mutation_p.V295L|FKBP5_ENST00000357266.4_Missense_Mutation_p.V295L	p.V295L	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN			10	1198	-			295					F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.883G>T	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104881	0.56291	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.93	5.93	0.95920	Elongated TPR repeat-containing domain (1);	0.102840	0.48767	D	0.000162	T	0.39091	0.1065	L	0.38953	1.18	0.80722	D	1	P	0.40794	0.729	B	0.32393	0.145	T	0.39961	-0.9588	10	0.30078	T	0.28	-14.4839	13.5336	0.61635	0.0:0.9291:0.0:0.0709	.	295	Q13451	FKBP5_HUMAN	L	295;295;295;295;116;258	ENSP00000444810:V295L;ENSP00000349811:V295L;ENSP00000441205:V295L;ENSP00000445412:V116L	ENSP00000338160:V295L	V	-	1	0	FKBP5	35655934	0.982000	0.34865	0.994000	0.49952	0.929000	0.56500	2.363000	0.44178	2.798000	0.96311	0.655000	0.94253	GTG		0.433	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			26	152	1	0	6.32553e-13	1	6.58909e-13	26	152					A	35547956	C	A	35547956	3	1	362	1	0	0	0	0	1	0	0	0	5911	565	20	4	502	4	FKBP5	6	35547956	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	3608127	35547956	135567111	19	33871											
PKHD1	5314	broad.mit.edu	37	chr6	51712705	51712705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgtcagggtaaggcgGcaaatctgtgtgcaccagca	15	8	2	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:51712705G>A	ENST00000371117.3	-	50	8250	c.7975C>T	c.(7975-7977)Ccg>Tcg	p.P2659S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2659S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2659					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)					GGGTAAGGCGGCAAATCTGTG	0.458																																						ENST00000371117.3																			0				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						c.(7975-7977)Ccg>Tcg		polycystic kidney and hepatic disease 1 (autosomal recessive)							145	140	142					6																	51712705		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51712705G>A	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.7975C>T	6.37:g.51712705G>A	ENSP00000360158:p.Pro2659Ser					PKHD1_ENST00000340994.4_Missense_Mutation_p.P2659S	p.P2659S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			50	8250	-	Lung NSC(77;0.0605)		2659					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7975C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128841	0.06753	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.99;-2.19	5.47	4.53	0.55603	.	0.255000	0.33477	N	0.004865	T	0.70824	0.3268	L	0.38175	1.15	0.09310	N	1	B;P;P	0.46706	0.278;0.688;0.883	B;P;B	0.44477	0.069;0.451;0.299	T	0.63554	-0.6611	10	0.33141	T	0.24	.	8.0274	0.30444	0.1371:0.0:0.8629:0.0	.	2659;2659;2659	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2659	ENSP00000360158:P2659S;ENSP00000341097:P2659S	ENSP00000341097:P2659S	P	-	1	0	PKHD1	51820664	0.951000	0.32395	0.003000	0.11579	0.077000	0.17291	2.879000	0.48522	1.276000	0.44395	0.650000	0.86243	CCG		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	171	0	0	0	1	0	4	171					A	51712705	G	A	51712705	3	1	362	1	0	0	0	0	1	0	0	0	11971	1203	42	2	4360	2	PKHD1	6	51712705	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	16164749	51712705	119402362	20	33872											
PCLO	27445	broad.mit.edu	37	chr7	82545175	82545175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattaggacataatttcgtgGagtatggtgatcaatatctg	10	4	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr7:82545175G>A	ENST00000333891.9	-	7	12464	c.12127C>T	c.(12127-12129)Cca>Tca	p.P4043S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4043S|PCLO_ENST00000437081.1_Missense_Mutation_p.P763S	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						TAATTTCGTGGAGTATGGTGA	0.408																																						ENST00000423517.2																			0				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						c.(12127-12129)Cca>Tca		piccolo presynaptic cytomatrix protein							121	113	115					7																	82545175		1960	4152	6112	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545175G>A	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.12127C>T	7.37:g.82545175G>A	ENSP00000334319:p.Pro4043Ser					PCLO_ENST00000437081.1_Missense_Mutation_p.P763S|PCLO_ENST00000333891.8_Missense_Mutation_p.P4043S	p.P4043S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12464	-			3974						Missense_Mutation	SNP	ENST00000333891.9	37	c.12127C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	5.762	0.325052	0.10900	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.25579	1.79;1.8	5.85	-3.93	0.04143	.	.	.	.	.	T	0.18087	0.0434	L	0.38175	1.15	0.22701	N	0.998834	B;B;B	0.12013	0.0;0.001;0.005	B;B;B	0.12156	0.001;0.007;0.007	T	0.25047	-1.0143	9	0.87932	D	0	.	8.5609	0.33509	0.5875:0.2078:0.2047:0.0	.	3974;4043;4043	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	S	4043;4043;763	ENSP00000334319:P4043S;ENSP00000388393:P4043S	ENSP00000334319:P4043S	P	-	1	0	PCLO	82383111	0.001000	0.12720	0.025000	0.17156	0.893000	0.52053	-0.090000	0.11163	-1.295000	0.02357	-0.302000	0.09304	CCA		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	58	0	0	0	1	0	6	58					A	82545175	G	A	82545175	3	1	362	1	0	0	0	0	1	0	0	0	11583	1174	41	2	3394	2	PCLO	7	82545175	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		82545175	76593488	21	33873											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	14	0	0	0	1	0	9	14					G	41790659	T	G	41790659	2	3	362	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08		41790659	104573363	22	33874											
FAM129B	64855	broad.mit.edu	37	chr9	130293979	130293979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgccctcaatctcatggCgcatgctgttgaagagagcc	11	13	2	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:130293979C>T	ENST00000373312.3	-	2	347	c.134G>A	c.(133-135)cGc>cAc	p.R45H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R32H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	45					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R45H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCTCATGGCGCATGCTGTT	0.577																																						ENST00000373312.3																			1	Substitution - Missense(1)	p.R45H(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(133-135)cGc>cAc		family with sequence similarity 129, member B							79	74	76					9																	130293979		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130293979C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.134G>A	9.37:g.130293979C>T	ENSP00000362409:p.Arg45His					FAM129B_ENST00000373314.3_Missense_Mutation_p.R32H|FAM129B_ENST00000468379.1_5'UTR	p.R45H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			2	347	-			45					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.134G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.930821	0.92389	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.25749	1.78;1.81	4.88	4.88	0.63580	.	0.055998	0.64402	D	0.000001	T	0.49609	0.1567	M	0.68593	2.085	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.50363	-0.8837	10	0.66056	D	0.02	-35.4698	15.5765	0.76392	0.0:1.0:0.0:0.0	.	32;45	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	32;45	ENSP00000362411:R32H;ENSP00000362409:R45H	ENSP00000362409:R45H	R	-	2	0	FAM129B	129333800	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.165000	0.77544	2.539000	0.85634	0.556000	0.70494	CGC		0.577	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		22	104	0	0	0	1	0	22	104					T	130293979	C	T	130293979	3	4	362	1	0	0	0	0	1	0	0	0	5437	768	27	1	2158	1	FAM129B	9	130293979	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		130293979	10919452	23	33875											
CARD9	64170	broad.mit.edu	37	chr9	139266361	139266361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacccactttccgtttgCggatgaccaggttggggtcg	13	11	0	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:139266361C>T	ENST00000371732.5	-	2	335	c.170G>A	c.(169-171)cGc>cAc	p.R57H	CARD9_ENST00000371734.3_Missense_Mutation_p.R57H|CARD9_ENST00000315908.7_Missense_Mutation_p.R57H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	57	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|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 interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTTCCGTTTGCGGATGACCAG	0.637																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(169-171)cGc>cAc		caspase recruitment domain family, member 9							185	191	189					9																	139266361		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266361C>T	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.170G>A	9.37:g.139266361C>T	ENSP00000360797:p.Arg57His					CARD9_ENST00000371734.3_Missense_Mutation_p.R57H|CARD9_ENST00000315908.7_Missense_Mutation_p.R57H	p.R57H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	335	-		Myeloproliferative disorder(178;0.0511)	57			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.170G>A	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338265	0.60963	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24538	1.85;1.85;1.85	4.64	4.64	0.57946	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.77103	2.36	0.48571	D	0.999675	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.59590	-0.7426	10	0.87932	D	0	-28.1925	16.6525	0.85220	0.0:1.0:0.0:0.0	.	57;57;57	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	H	57	ENSP00000360799:R57H;ENSP00000360797:R57H;ENSP00000323719:R57H	ENSP00000323719:R57H	R	-	2	0	CARD9	138386182	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	4.504000	0.60414	2.413000	0.81919	0.549000	0.68633	CGC		0.637	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		5	408	0	0	0	1	0	5	408					T	139266361	C	T	139266361	3	4	362	1	0	0	0	0	1	0	0	0	2652	768	27	1	1541	1	CARD9	9	139266361	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	8972382	139266361	1947070	24	33876											
NOTCH1	4851	broad.mit.edu	37	chr9	139396809	139396809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccctcagggaaccagaGctggccatgctgccgccggc	14	15	1	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:139396809G>A	ENST00000277541.6	-	28	5374	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1767					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)		GGGAACCAGAGCTGGCCATGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(5299-5301)Ctc>Ttc		notch 1							17	21	19					9																	139396809		2003	4163	6166	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396809G>A	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.5299C>T	9.37:g.139396809G>A	ENSP00000277541:p.Leu1767Phe	HNSCC(8;0.001)					p.L1767F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	28	5374	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1767					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5299C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139863	0.94560	.	.	ENSG00000148400	ENST00000277541	D	0.84660	-1.88	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95208	0.8323	10	0.72032	D	0.01	.	16.7691	0.85532	0.0:0.0:1.0:0.0	.	1767	P46531	NOTC1_HUMAN	F	1767	ENSP00000277541:L1767F	ENSP00000277541:L1767F	L	-	1	0	NOTCH1	138516630	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.492000	0.97957	2.271000	0.75665	0.561000	0.74099	CTC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	58	0	0	0	1	0	9	58					A	139396809	G	A	139396809	3	1	362	1	0	0	0	0	1	0	0	0	10547	971	34	2	2396	2	NOTCH1	9	139396809	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	130448	139396809	1816622	25	33877											
PTPRE	5791	broad.mit.edu	37	chr10	129869084	129869084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcagaaattgacaaatGtccggatcatgaaggagaac	11	7	1	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr10:129869084G>A	ENST00000254667.3	+	15	1585	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	PTPRE_ENST00000306042.5_Missense_Mutation_p.V378I|PTPRE_ENST00000419012.2_Missense_Mutation_p.V436I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	436	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ATTGACAAATGTCCGGATCAT	0.522																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1306-1308)Gtc>Atc		protein tyrosine phosphatase, receptor type, E							80	69	73					10																	129869084		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129869084G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1306G>A	10.37:g.129869084G>A	ENSP00000254667:p.Val436Ile					PTPRE_ENST00000419012.2_Missense_Mutation_p.V436I|PTPRE_ENST00000306042.5_Missense_Mutation_p.V378I	p.V436I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			15	1585	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	436			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1306G>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093781	0.36952	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.11604	2.76;2.76;2.76	4.51	3.6	0.41247	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.158796	0.41396	D	0.000897	T	0.06234	0.0161	N	0.11927	0.2	0.80722	D	1	P;B;B;B	0.37207	0.587;0.017;0.007;0.017	B;B;B;B	0.36464	0.225;0.009;0.014;0.009	T	0.40627	-0.9553	10	0.11794	T	0.64	.	13.8756	0.63651	0.0:0.0:0.8463:0.1537	.	414;436;378;436	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	I	436;414;436;378	ENSP00000254667:V436I;ENSP00000402337:V436I;ENSP00000303350:V378I	ENSP00000254667:V436I	V	+	1	0	PTPRE	129759074	1.000000	0.71417	0.886000	0.34754	0.840000	0.47671	4.360000	0.59455	1.092000	0.41356	0.650000	0.86243	GTC		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			10	35	0	0	0	1	0	10	35					A	129869084	G	A	129869084	3	1	362	1	0	0	0	0	1	0	0	0	12800	1377	48	2	1395	2	PTPRE	10	129869084	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		129869084	5665663	26	33878											
OR5T3	390154	broad.mit.edu	37	chr11	56020474	56020474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctaagggaaggcaaaagGccttctctacatgtggctct	11	10	2	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:56020474G>A	ENST00000303059.3	+	1	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGGCAAAAGGCCTTCTCTAC	0.423																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(799-801)Gcc>Acc		olfactory receptor, family 5, subfamily T, member 3							222	199	207					11																	56020474		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020474G>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.799G>A	11.37:g.56020474G>A	ENSP00000305403:p.Ala267Thr						p.A267T	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	799	+	Esophageal squamous(21;0.00448)		267					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.799G>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335404	0.41398	.	.	ENSG00000172489	ENST00000303059	T	0.00357	7.89	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.335919	0.21203	N	0.078426	T	0.00440	0.0014	M	0.64567	1.98	0.32991	D	0.524963	B	0.17852	0.024	B	0.34093	0.175	T	0.51872	-0.8650	10	0.62326	D	0.03	.	17.6491	0.88158	0.0:0.0:1.0:0.0	.	267	Q8NGG3	OR5T3_HUMAN	T	267	ENSP00000305403:A267T	ENSP00000305403:A267T	A	+	1	0	OR5T3	55777050	0.507000	0.26146	0.059000	0.19551	0.002000	0.02628	3.430000	0.52807	2.466000	0.83321	0.643000	0.83706	GCC		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		27	135	0	0	0	1	0	27	135					A	56020474	G	A	56020474	3	1	362	1	0	0	0	0	1	0	0	0	11183	1203	42	2	801	2	OR5T3	11	56020474	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		56020474	78986042	27	33879											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G													cccccacagggagtggcggtINSggccttggggggtgatggca							TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2329-2331)ggcfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745490_124745491insG	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2332dupG	11.37:g.124745492_124745492dupG	ENSP00000380903:p.Ala778fs					ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	p.G777fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	15	2522_2523	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	777			Fibronectin type-III 3.			Frame_Shift_Ins	INS	ENST00000397801.1	37	c.2330_2331insG	CCDS44755.1																																																																																				0.604	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		8	40						8	40	---	---	---	---	G	124745491	-	G	124745490	7	5	362	1	0	1	1	0	0	0	0	0	13515	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	68725016	124745490	10261026	28	33880											
GLB1L3	112937	broad.mit.edu	37	chr11	134147259	134147259	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaatggcgggcatctttttCctgccatttatctcatcagg	9	10	3	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:134147259C>T	ENST00000431683.2	+	2	63	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GLB1L3_ENST00000389887.5_Silent_p.F21F	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	21					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCATCTTTTTCCTGCCATTTA	0.542																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(61-63)ttC>ttT		galactosidase, beta 1-like 3							64	70	68					11																	134147259		1883	4106	5989	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134147259C>T		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.63C>T	11.37:g.134147259C>T						GLB1L3_ENST00000431683.2_Silent_p.F21F	p.F21F			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	2	2559	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	21					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.63C>T	CCDS44780.1																																																																																				0.542	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		5	45	0	0	0	1	0	5	45					T	134147259	C	T	134147259	2	4	362	1	0	0	0	0	0	0	0	1	6430	854	30	2		2	GLB1L3	11	134147259	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	9401769	134147259	859257	29	33881											
ETV6	2120	broad.mit.edu	37	chr12	11992227	11992227	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaggactttcgctatcgatCtcctcattcaggtgagagtc	10	10	3	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:11992227C>G	ENST00000396373.4	+	3	591	c.317C>G	c.(316-318)tCt>tGt	p.S106C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	106	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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 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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCTATCGATCTCCTCATTCA	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"L, E, M"	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"		"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	1	Deletion - Frameshift(1)	p.Y104fs*14(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(316-318)tCt>tGt		ets variant 6							105	99	101					12																	11992227		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:11992227C>G	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.317C>G	12.37:g.11992227C>G	ENSP00000379658:p.Ser106Cys						p.S106C	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			3	591	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	106			PNT.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.317C>G	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956939	0.34565	.	.	ENSG00000139083	ENST00000396373;ENST00000545027	T;T	0.30981	1.51;1.51	5.7	4.75	0.60458	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.168785	0.53938	D	0.000046	T	0.18676	0.0448	N	0.14661	0.345	0.49582	D	0.999807	B	0.16802	0.019	B	0.16289	0.015	T	0.05886	-1.0858	10	0.20046	T	0.44	.	14.425	0.67210	0.0:0.7313:0.2686:0.0	.	106	P41212	ETV6_HUMAN	C	106;78	ENSP00000379658:S106C;ENSP00000441463:S78C	ENSP00000379658:S106C	S	+	2	0	ETV6	11883494	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.468000	0.53086	2.696000	0.92011	0.655000	0.94253	TCT		0.463	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		5	78	0	0	0	1	0	5	78					G	11992227	C	G	11992227	3	3	362	1	0	0	0	0	1	0	0	0	5283	913	32	4	327	4	ETV6	12	11992227	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		11992227	121859668	30	33882											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	18	9	0	0	rs534390661	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								-|||	23	0.00459265	0.0061	0.0014	5008	,	,		6788	0.006		0.007	False		,,,				2504	0.001					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3004-3006)acT>acC		nascent polypeptide-associated complex alpha subunit							33	40	38					12																	57112308		1518	3502	5020	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112308A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3006T>C	12.37:g.57112308A>G						NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	p.T1002T	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3287	-			0						Silent	SNP	ENST00000454682.1	37	c.3006T>C																																																																																					0.652	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	121	0	0	0	1	0	6	121					G	57112308	A	G	57112308	2	3	362	1	0	0	0	0	0	0	0	1	10133	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	45120081	57112308	76739587	31	33883											
CNOT2	4848	broad.mit.edu	37	chr12	70726595	70726595	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggcatttggaatgaataaCtccttatcaagtaacatttt	6	7	1	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:70726595C>G	ENST00000418359.3	+	8	1069	c.618C>G	c.(616-618)aaC>aaG	p.N206K	CNOT2_ENST00000551483.1_5'Flank|CNOT2_ENST00000229195.3_Missense_Mutation_p.N206K|CNOT2_ENST00000548230.1_3'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	206					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAATGAATAACTCCTTATCAA	0.318																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(616-618)aaC>aaG		CCR4-NOT transcription complex, subunit 2							123	130	127					12																	70726595		2203	4296	6499	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70726595C>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.618C>G	12.37:g.70726595C>G	ENSP00000412091:p.Asn206Lys					CNOT2_ENST00000418359.3_Missense_Mutation_p.N206K|CNOT2_ENST00000548230.1_3'UTR	p.N206K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		7	1197	+	Renal(347;0.236)		206					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.618C>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138924	0.56936	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000551043;ENST00000551873;ENST00000550194;ENST00000550155	T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.68	5.68	0.88126	.	0.132002	0.64402	D	0.000002	T	0.55878	0.1948	N	0.22421	0.69	0.51012	D	0.999903	B	0.06786	0.001	B	0.01281	0.0	T	0.53528	-0.8426	10	0.06625	T	0.88	-7.1399	17.9739	0.89121	0.0:1.0:0.0:0.0	.	206	Q9NZN8	CNOT2_HUMAN	K	206;206;206;145;186;197;206;121;198;16	ENSP00000450318:N206K;ENSP00000229195:N206K;ENSP00000412091:N206K;ENSP00000447497:N145K;ENSP00000448024:N186K;ENSP00000449659:N197K;ENSP00000449260:N206K;ENSP00000450090:N121K;ENSP00000449446:N198K;ENSP00000448499:N16K	ENSP00000229195:N206K	N	+	3	2	CNOT2	69012862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.199000	0.51043	2.678000	0.91216	0.585000	0.79938	AAC		0.318	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			29	60	0	0	0	1	0	29	60					G	70726595	C	G	70726595	3	3	362	1	0	0	0	0	1	0	0	0	3619	564	20	4	640	4	CNOT2	12	70726595	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	13614287	70726595	63125300	32	33884											
PCDH17	27253	broad.mit.edu	37	chr13	58207144	58207144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cacccgcttccccctcaccaGcgcacatgaccccgacgccg	7	23	1	1	rs200264976		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr13:58207144G>C	ENST00000377918.3	+	1	490	c.464G>C	c.(463-465)aGc>aCc	p.S155T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	155	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)			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)		CCCCTCACCAGCGCACATGAC	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				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						c.(463-465)aGc>aCc		protocadherin 17							57	53	55					13																	58207144		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207144G>C	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.464G>C	13.37:g.58207144G>C	ENSP00000367151:p.Ser155Thr						p.S155T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	490	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	155			Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.464G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184436	0.38609	.	.	ENSG00000118946	ENST00000377918	T	0.47177	0.85	5.1	5.1	0.69264	Cadherin (4);Cadherin-like (1);	0.078164	0.85682	D	0.000000	T	0.51007	0.1649	M	0.73372	2.23	0.39345	D	0.965643	B;B	0.20368	0.036;0.044	B;B	0.24006	0.03;0.05	T	0.49707	-0.8911	9	.	.	.	.	18.7125	0.91662	0.0:0.0:1.0:0.0	.	155;155	O14917-2;O14917	.;PCD17_HUMAN	T	155	ENSP00000367151:S155T	.	S	+	2	0	PCDH17	57105145	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.158000	0.64917	2.669000	0.90835	0.650000	0.86243	AGC		0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	48	0	0	0	1	0	7	48					C	58207144	G	C	58207144	3	2	362	1	0	0	0	0	1	0	0	0	11512	971	34	4	466	4	PCDH17	13	58207144	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		58207144	56962734	33	33885											
SLC12A1	6557	broad.mit.edu	37	chr15	48559802	48559803	+	Frame_Shift_Ins	INS	-	-	A													agatgaacagtggcatggcgINSaaaaaacaggcctggcttat					rs150609105	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr15:48559802_48559803insA	ENST00000558405.1	+	17	2213_2214	c.2199_2200insA	c.(2200-2202)aaafs	p.K734fs	SLC12A1_ENST00000396577.3_Frame_Shift_Ins_p.K734fs|SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.K734fs			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	734					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)	GTGGCATGGCGAAAAAACAGGC	0.446																																						ENST00000396577.3																			0				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						c.(2197-2202)gcaaaafs		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)																																			SO:0001589	frameshift_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48559802_48559803insA		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.2205dupA	15.37:g.48559808_48559808dupA	ENSP00000453409:p.Lys734fs					SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.AK733fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.AK733fs	p.AK733fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	18	2414_2415	+		all_lung(180;0.00219)	733					A8JYA2|E9PDW4	Frame_Shift_Ins	INS	ENST00000558405.1	37	c.2199_2200insA	CCDS10129.2																																																																																				0.446	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			7	103						7	103	---	---	---	---	A	48559803	-	A	48559802	7	5	362	1	0	1	1	0	0	0	0	0	14382	1045	37	0	2365	0	SLC12A1	15	48559802	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		48559802	53971590	34	33886											
SLC12A3	6559	broad.mit.edu	37	chr16	56921899	56921899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcaagaagaactggcaGtcggctcacccggccacagt	13	12	2	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr16:56921899G>A	ENST00000563236.1	+	18	2266	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	SLC12A3_ENST00000438926.2_Silent_p.Q747Q|SLC12A3_ENST00000262502.5_Silent_p.Q746Q|SLC12A3_ENST00000566786.1_Silent_p.Q746Q			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	747					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)	AGAACTGGCAGTCGGCTCACC	0.587																																						ENST00000438926.2																			0				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						c.(2239-2241)caG>caA		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						57	54	55					16																	56921899		2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56921899G>A		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.2241G>A	16.37:g.56921899G>A						SLC12A3_ENST00000262502.5_Silent_p.Q746Q|SLC12A3_ENST00000563236.1_Silent_p.Q747Q|SLC12A3_ENST00000566786.1_Silent_p.Q746Q	p.Q747Q	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			18	2270	+			747					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.2241G>A	CCDS58464.1																																																																																				0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			11	100	0	0	0	1	0	11	100					A	56921899	G	A	56921899	2	1	362	1	0	0	0	0	0	0	0	1	14384	1020	36	2		2	SLC12A3	16	56921899	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		56921899	33432854	35	33887											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	12	0	0	0	1	0	28	12					A	7577121	G	A	7577121	3	1	362	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		7577121	73618089	36	33888											
RHOT1	55288	broad.mit.edu	37	chr17	30503008	30503008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgtatagtgtatgccGttaacaacaagcattctatt	6	8	3	0	rs372047619		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:30503008G>A	ENST00000333942.6	+	5	489	c.250G>A	c.(250-252)Gtt>Att	p.V84I	RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000354266.3_Missense_Mutation_p.V63I|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000394692.2_Missense_Mutation_p.V84I|RHOT1_ENST00000545287.2_Missense_Mutation_p.V84I|RHOT1_ENST00000581094.1_Missense_Mutation_p.V84I|RHOT1_ENST00000358365.3_Missense_Mutation_p.V84I	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	84	Miro 1.				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)				AGTGTATGCCGTTAACAACAA	0.308																																						ENST00000358365.3																			0				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						c.(250-252)Gtt>Att		ras homolog family member T1		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	124	99	107		250,250,250	4.3	1	17		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RHOT1	NM_001033566.1,NM_001033568.1,NM_018307.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	84/660,84/692,84/619	30503008	1,13005	2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30503008G>A	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.250G>A	17.37:g.30503008G>A	ENSP00000334724:p.Val84Ile					RHOT1_ENST00000581094.1_Missense_Mutation_p.V84I|RHOT1_ENST00000545287.2_Missense_Mutation_p.V84I|RHOT1_ENST00000354266.3_Missense_Mutation_p.V63I|RHOT1_ENST00000333942.6_Missense_Mutation_p.V84I|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000394692.2_Missense_Mutation_p.V84I	p.V84I	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			5	477	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	84			Miro 1.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.250G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760758	0.49468	0.0	1.16E-4	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.34	4.35	0.52113	Small GTP-binding protein domain (1);MIRO (1);	0.051993	0.85682	D	0.000000	T	0.75324	0.3834	L	0.38649	1.16	0.80722	D	1	D;D;D;D	0.60160	0.982;0.987;0.967;0.982	P;P;P;P	0.54664	0.63;0.684;0.7;0.758	T	0.75637	-0.3249	10	0.42905	T	0.14	-12.5086	15.2302	0.73381	0.0:0.0:0.8581:0.1419	.	84;84;84;84	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	I	84	ENSP00000351132:V84I;ENSP00000378184:V84I;ENSP00000334724:V84I;ENSP00000439737:V84I	ENSP00000334724:V84I	V	+	1	0	RHOT1	27527121	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.455000	0.97625	1.206000	0.43276	0.655000	0.94253	GTT		0.308	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		3	22	0	0	0	1	0	3	22					A	30503008	G	A	30503008	3	1	362	1	0	0	0	0	1	0	0	0	13343	1145	40	1	268	1	RHOT1	17	30503008	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	22925887	30503008	50692202	37	33889											
MPO	4353	broad.mit.edu	37	chr17	56355276	56355276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcagcagggcccggccGttgtcttggaagcgctggtt	17	10	1	0	rs201434504		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:56355276G>A	ENST00000225275.3	-	7	1292	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	MPO_ENST00000340482.3_Silent_p.N404N|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	372					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGGCCCGGCCGTTGTCTTGGA	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17229	0.0		0.0	False		,,,				2504	0.0					ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1210-1212)aaC>aaT		myeloperoxidase	Cefdinir(DB00535)						62	61	62					17																	56355276		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355276G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1116C>T	17.37:g.56355276G>A						MPO_ENST00000225275.3_Silent_p.N372N|MPO_ENST00000578493.1_5'UTR	p.N404N			P05164	PERM_HUMAN			6	1388	-			372					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1212C>T	CCDS11604.1																																																																																				0.652	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			41	55	0	0	0	1	0	41	55					A	56355276	G	A	56355276	2	1	362	1	0	0	0	0	0	0	0	1	9732	1136	40	1		1	MPO	17	56355276	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	25852268	56355276	24839934	38	33890											
SCN4A	6329	broad.mit.edu	37	chr17	62036690	62036690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagctctaccaggctgaGggtgacgatgatgctgtcga	14	10	1	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:62036690G>A	ENST00000435607.1	-	12	2030	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	SCN4A_ENST00000578147.1_Missense_Mutation_p.L652F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	652					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)	ACCAGGCTGAGGGTGACGATG	0.562																																						ENST00000578147.1																			0				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						c.(1954-1956)Ctc>Ttc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						86	89	88					17																	62036690		2088	4238	6326	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036690G>A	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.1954C>T	17.37:g.62036690G>A	ENSP00000396320:p.Leu652Phe					SCN4A_ENST00000435607.1_Missense_Mutation_p.L652F	p.L652F			P35499	SCN4A_HUMAN			12	2030	-			652					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1954C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408916	0.62399	.	.	ENSG00000007314	ENST00000435607	D	0.97620	-4.46	4.92	4.92	0.64577	Ion transport (1);	0.068426	0.64402	D	0.000011	D	0.95538	0.8550	L	0.45744	1.44	0.50171	D	0.999851	P	0.34662	0.462	B	0.41917	0.37	D	0.94946	0.8095	10	0.87932	D	0	.	10.8792	0.46929	0.0854:0.0:0.9146:0.0	.	652	P35499	SCN4A_HUMAN	F	652	ENSP00000396320:L652F	ENSP00000396320:L652F	L	-	1	0	SCN4A	59390422	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.085000	0.41634	2.573000	0.86826	0.556000	0.70494	CTC		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		13	52	0	0	0	1	0	13	52					A	62036690	G	A	62036690	3	1	362	1	0	0	0	0	1	0	0	0	13920	1000	35	2	3608	2	SCN4A	17	62036690	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	5681414	62036690	19158520	39	33891											
CD300LB	124599	broad.mit.edu	37	chr17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatggtcacagtgaacGtgcggtctttctgattgtcc	10	12	3	2	rs374822987		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(367-369)aCg>aTg		CD300 molecule-like family member b		G	MET/THR	0,4406		0,0,2203	256	226	236		368	-5.7	0	17		236	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD300LB	NM_174892.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/239	72522000	1,13005	2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522000G>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.368C>T	17.37:g.72522000G>A	ENSP00000376397:p.Thr123Met					CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	p.T123M	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	372	-			86					Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.368C>T	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408131	0.11754	0.0	1.16E-4	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.66995	-0.24	5.17	-5.66	0.02451	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.115730	0.02066	N	0.051141	T	0.65863	0.2732	M	0.87682	2.9	0.09310	N	1	B;B	0.33000	0.179;0.393	B;B	0.25140	0.058;0.058	T	0.57745	-0.7758	10	0.48119	T	0.1	-3.7919	8.0694	0.30680	0.5423:0.1097:0.348:0.0	.	123;86	B4DQ71;A8K4G0	.;CLM7_HUMAN	M	86;123	ENSP00000317337:T123M	ENSP00000317337:T123M	T	-	2	0	CD300LB	70033595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.255000	0.02872	-1.007000	0.03408	-2.376000	0.00234	ACG		0.522	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		4	209	0	0	0	1	0	4	209					A	72522000	G	A	72522000	3	1	362	1	0	0	0	0	1	0	0	0	2999	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	10485310	72522000	8673210	40	33892											
IL27RA	9466	broad.mit.edu	37	chr19	14157389	14157389	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctggagaaactcaactGggtccggcttccccctggga	11	16	1	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:14157389G>A	ENST00000263379.2	+	8	1225	c.1100G>A	c.(1099-1101)tGg>tAg	p.W367*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	367	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAACTCAACTGGGTCCGGCTT	0.632																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1099-1101)tGg>tAg		interleukin 27 receptor, alpha							70	76	74					19																	14157389		2203	4300	6503	SO:0001587	stop_gained	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157389G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1100G>A	19.37:g.14157389G>A	ENSP00000263379:p.Trp367*						p.W367*	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			8	1225	+			367			Fibronectin type-III 2.		A0N0L1|O60624	Nonsense_Mutation	SNP	ENST00000263379.2	37	c.1100G>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	39	7.665155	0.98419	.	.	ENSG00000104998	ENST00000263379	.	.	.	4.7	4.7	0.59300	.	0.000000	0.39759	N	0.001262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0066	0.58707	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000263379:W367X	W	+	2	0	IL27RA	14018389	1.000000	0.71417	0.980000	0.43619	0.491000	0.33493	4.235000	0.58666	2.442000	0.82660	0.555000	0.69702	TGG		0.632	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		60	119	0	0	0	1	0	60	119					A	14157389	G	A	14157389	4	1	362	1	0	0	0	0	0	1	0	0	7681	1357	47	2	1130	2	IL27RA	19	14157389	Nonsense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		14157389	44971594	41	33893											
USE1	55850	broad.mit.edu	37	chr19	17330605	17330605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctcttcattcgaatcAtgcctaaactcaaataaaga	4	10	4	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:17330605A>G	ENST00000263897.5	+	8	810	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	USE1_ENST00000445667.2_Missense_Mutation_p.M255V|USE1_ENST00000596136.1_3'UTR|USE1_ENST00000379776.4_3'UTR	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	255					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						CATTCGAATCATGCCTAAACT	0.522																																						ENST00000445667.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(763-765)Atg>Gtg		unconventional SNARE in the ER 1 homolog (S. cerevisiae)							108	116	114					19																	17330605		2158	4275	6433	SO:0001583	missense	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330605A>G	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"Q-SNARE", "SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.763A>G	19.37:g.17330605A>G	ENSP00000263897:p.Met255Val					USE1_ENST00000263897.5_Missense_Mutation_p.M255V|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR	p.M255V			Q9NZ43	USE1_HUMAN			8	823	+			255					Q8NCK1|Q9BRT4	Missense_Mutation	SNP	ENST00000263897.5	37	c.763A>G	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990932	0.35131	.	.	ENSG00000053501	ENST00000263897;ENST00000445667	T;T	0.44083	0.93;0.93	4.73	1.29	0.21616	.	0.133103	0.64402	N	0.000001	T	0.22437	0.0541	N	0.25890	0.77	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.05402	-1.0887	10	0.24483	T	0.36	-24.4904	3.3229	0.07057	0.3892:0.0:0.2293:0.3815	.	255	Q9NZ43	USE1_HUMAN	V	255	ENSP00000263897:M255V;ENSP00000390287:M255V	ENSP00000263897:M255V	M	+	1	0	USE1	17191605	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	3.169000	0.50809	0.224000	0.20940	0.402000	0.26972	ATG		0.522	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		4	188	0	0	0	1	0	4	188					G	17330605	A	G	17330605	3	3	362	1	0	0	0	0	1	0	0	0	17028	217	8	3	793	3	USE1	19	17330605	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	3173216	17330605	41798378	42	33894											
IFNAR1	3454	broad.mit.edu	37	chr21	34717551	34717551	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatctgttctttggcttctaGttgaaaatgaactacctcca	6	9	3	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr21:34717551G>C	ENST00000270139.3	+	6	825		c.e6-1		IFNAR1_ENST00000442357.2_Splice_Site|IFNAR1_ENST00000416947.2_Splice_Site	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1						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)"	TTGGCTTCTAGTTGAAAATGA	0.328																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.e6-1		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						78	75	76					21																	34717551		2203	4300	6503	SO:0001630	splice_region_variant	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34717551G>C		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.674-1G>C	21.37:g.34717551G>C						IFNAR1_ENST00000416947.2_Splice_Site|IFNAR1_ENST00000442357.2_Splice_Site		NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			6	825	+								B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Splice_Site	SNP	ENST00000270139.3	37		CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243703	0.39697	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442071;ENST00000442357	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7419	0.69461	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFNAR1	33639421	1.000000	0.71417	0.895000	0.35142	0.429000	0.31625	4.257000	0.58816	2.610000	0.88304	0.549000	0.68633	.		0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		Intron	5	29	0	0	0	1	0	5	29					C	34717551	G	C	34717551	5	2	362	1	0	0	0	0	0	0	1	0	7544	1043	36	4	695	4	IFNAR1	21	34717551	Splice_Site	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		34717551	13412344	43	33895											
PHF16	9767	broad.mit.edu	37	chrX	46887419	46887419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagagtatgatgaagatGtgatctgtgatgtgtgccgg	15	4	1	6			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:46887419G>A	ENST00000218343.4	+	6	899	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	PHF16_ENST00000397189.1_Missense_Mutation_p.V201M	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGATGAAGATGTGATCTGTGA	0.448																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(601-603)Gtg>Atg									352	231	272					X																	46887419		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887419G>A																												ENST00000218343.4:c.601G>A	X.37:g.46887419G>A	ENSP00000218343:p.Val201Met					PHF16_ENST00000397189.1_Missense_Mutation_p.V201M	p.V201M	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			6	899	+			201						Missense_Mutation	SNP	ENST00000218343.4	37	c.601G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052551	0.93793	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87887	-2.31;-2.31	5.78	5.78	0.91487	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95153	0.8429	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95610	0.8671	9	.	.	.	.	18.973	0.92722	0.0:0.0:1.0:0.0	.	201	Q92613	JADE3_HUMAN	M	201	ENSP00000380373:V201M;ENSP00000218343:V201M	.	V	+	1	0	PHF16	46772363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.732000	0.98816	2.428000	0.82296	0.594000	0.82650	GTG		0.448	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			27	61	0	0	0	1	0	27	61					A	46887419	G	A	46887419	3	1	362	1	0	0	0	0	1	0	0	0	11827	1377	48	2	619	2	PHF16	23	46887419	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		46887419	108383141	44	33896											
ATRX	546	broad.mit.edu	37	chrX	76920192	76920193	+	Frame_Shift_Ins	INS	-	-	TCATCAT													tttttttcccttcttctggcINStcatcatctgaagatccatc							TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:76920192_76920193insTCATCAT	ENST00000373344.5	-	11	4098_4099	c.3884_3885insATGATGA	c.(3883-3885)gagfs	p.-1295fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.-1257fs|ATRX_ENST00000480283.1_De_novo_Start_OutOfFrame	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						CTTCTTCTGGCTCATCATCTGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000480283.1				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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								alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920192_76920193insTCATCAT	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.3878_3884dupATGATGA	X.37:g.76920193_76920199dupTCATCAT	ENSP00000362441:p.Glu1295fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.A1257fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.A1295fs				P46100	ATRX_HUMAN			0	4221_4222	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Translation_Start_Site	INS	ENST00000373344.5	37		CCDS14434.1																																																																																				0.351	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		27	72						27	72	---	---	---	---	TCATCAT	76920193	-	TCATCAT	76920192	7	5	362	1	0	1	1	0	0	0	0	0	1208	796	28	0	3693	0	ATRX	23	76920192	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	30032773	76920192	78350368	45	33897											
GUCY2F	2986	broad.mit.edu	37	chrX	108718947	108718947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggctaatcgcgcagcaacCtcaggcagggcctttgaaaa	11	11	1	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:108718947C>A	ENST00000218006.2	-	2	510	c.219G>T	c.(217-219)gaG>gaT	p.E73D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	73					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCGCAGCAACCTCAGGCAGGG	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(217-219)gaG>gaT		guanylate cyclase 2F, retinal							79	72	74					X																	108718947		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718947C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.219G>T	X.37:g.108718947C>A	ENSP00000218006:p.Glu73Asp		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.E73D	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	510	-			73					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.219G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	1.701	-0.501578	0.04261	.	.	ENSG00000101890	ENST00000218006	T	0.74315	-0.83	4.95	-1.73	0.08081	.	0.936513	0.09113	N	0.846878	T	0.44953	0.1318	N	0.10916	0.065	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.22836	-1.0205	10	0.13108	T	0.6	.	0.6382	0.00806	0.4082:0.2034:0.1227:0.2657	.	73	P51841	GUC2F_HUMAN	D	73	ENSP00000218006:E73D	ENSP00000218006:E73D	E	-	3	2	GUCY2F	108605603	0.000000	0.05858	0.646000	0.29493	0.884000	0.51177	-1.403000	0.02497	-0.298000	0.08921	-0.318000	0.08688	GAG		0.517	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		15	197	1	0	2.31682e-05	1	2.3803e-05	15	197					A	108718947	C	A	108718947	3	1	362	1	0	0	0	0	1	0	0	0	6898	680	24	4	3179	4	GUCY2F	23	108718947	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	31798755	108718947	46551613	46	33898											
MAGEA6	4105	broad.mit.edu	37	chrX	151870086	151870086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaactacctggagtaccGgcaggtccccggcagtgatc	13	12	0	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:151870086G>A	ENST00000329342.5	+	3	1001	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522																																						ENST00000329342.5																			1	Substitution - Missense(1)	p.R259Q(1)	breast(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(775-777)cGg>cAg		melanoma antigen family A, 6							127	129	128					X																	151870086		2203	4298	6501	SO:0001583	missense	4105						protein binding	g.chrX:151870086G>A		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.776G>A	X.37:g.151870086G>A	ENSP00000329199:p.Arg259Gln						p.R259Q	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1001	+	Acute lymphoblastic leukemia(192;6.56e-05)		259			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.776G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	5.557	0.287720	0.10513	.	.	ENSG00000197172	ENST00000329342	T	0.05786	3.39	0.605	-0.541	0.11858	.	.	.	.	.	T	0.04227	0.0117	L	0.53249	1.67	0.09310	N	1	P	0.44986	0.847	B	0.26310	0.068	T	0.38585	-0.9654	8	0.35671	T	0.21	.	.	.	.	.	259	P43360	MAGA6_HUMAN	Q	259	ENSP00000329199:R259Q	ENSP00000329199:R259Q	R	+	2	0	MAGEA6	151620742	0.000000	0.05858	0.008000	0.14137	0.156000	0.22039	-1.148000	0.03185	-0.309000	0.08779	0.181000	0.17075	CGG		0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		7	315	0	0	0	1	0	7	315					A	151870086	G	A	151870086	3	1	362	1	0	0	0	0	1	0	0	0	9170	1116	39	1	778	1	MAGEA6	23	151870086	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	43151139	151870086	3400474	47	33899											
NUP210L	91181	broad.mit.edu	37	chr1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacctggatgatttccaattCggaatgtgagaacctttaag	9	8	0	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(2200-2202)cGa>cAa		nucleoporin 210kDa-like							77	77	77					1																	154062057		1892	4122	6014	SO:0001583	missense	91181					integral to membrane		g.chr1:154062057C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2201G>A	1.37:g.154062057C>T	ENSP00000357547:p.Arg734Gln					NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		16	2272	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		734					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2201G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244852	0.22796	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.22945	1.93;1.93	4.57	1.51	0.23008	.	0.150747	0.30752	N	0.008943	T	0.07098	0.0180	L	0.47716	1.5	0.38637	D	0.951515	B;B	0.13594	0.003;0.008	B;B	0.08055	0.003;0.003	T	0.19976	-1.0289	10	0.14656	T	0.56	-27.8864	7.693	0.28579	0.0:0.6275:0.0:0.3725	.	734;734	E7EP56;Q5VU65	.;P210L_HUMAN	Q	734	ENSP00000357547:R734Q;ENSP00000271854:R734Q	ENSP00000271854:R734Q	R	-	2	0	NUP210L	152328681	0.635000	0.27199	0.958000	0.39756	0.942000	0.58702	-0.037000	0.12164	0.129000	0.18514	-0.444000	0.05651	CGA		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		5	73	0	0	0	1	0	5	73					T	154062057	C	T	154062057	3	4	363	1	0	0	0	0	1	0	0	0	10761	884	31	1	3565	1	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		154062057	95188564	1	33900											
DQX1	165545	broad.mit.edu	37	chr2	74750021	74750021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacactcccctggctctgcaAtctgtctcctttttagtagt	7	13	3	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:74750021A>G	ENST00000404568.3	-	7	1484	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	DQX1_ENST00000393951.2_Missense_Mutation_p.I422T|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	422	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCTCTGCAATCTGTCTCCT	0.522																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(1264-1266)aTt>aCt		DEAQ box RNA-dependent ATPase 1							103	98	100					2																	74750021		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750021A>G	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1265T>C	2.37:g.74750021A>G	ENSP00000384621:p.Ile422Thr					DQX1_ENST00000393951.2_Missense_Mutation_p.I422T	p.I422T	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			7	1484	-			422			Helicase C-terminal.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1265T>C	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597518	0.66332	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.05319	3.46;3.46	4.99	4.99	0.66335	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.27241	0.0668	M	0.89163	3.01	0.46874	D	0.999231	D	0.76494	0.999	D	0.64144	0.922	T	0.07790	-1.0754	10	0.72032	D	0.01	-27.8683	12.6346	0.56677	1.0:0.0:0.0:0.0	.	422	Q8TE96	DQX1_HUMAN	T	422	ENSP00000377523:I422T;ENSP00000384621:I422T	ENSP00000377523:I422T	I	-	2	0	DQX1	74603529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.510000	0.90532	1.879000	0.54435	0.454000	0.30748	ATT		0.522	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		53	79	0	0	0	1	0	53	79					G	74750021	A	G	74750021	3	3	363	1	0	0	0	0	1	0	0	0	4751	101	4	3	912	3	DQX1	2	74750021	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		74750021	168449352	2	33901											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	42	0	0	0	1	0	19	42					A	209113113	G	A	209113113	3	1	363	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	134363092	209113113	34086260	3	33902											
FANCD2	2177	broad.mit.edu	37	chr3	10107141	10107141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttgtgtggagagacaGcataacggaaacttggagga	14	5	0	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:10107141G>A	ENST00000419585.1	+	24	2393	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000287647.3_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					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)		TGGAGAGACAGCATAACGGAA	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				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						c.(2230-2232)caG>caA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							178	177	177					3																	10107141		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107141G>A	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.2232G>A	3.37:g.10107141G>A						FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q	p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2325	+			744					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2232G>A	CCDS33696.1																																																																																				0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	114	0	0	0	1	0	4	114					A	10107141	G	A	10107141	2	1	363	1	0	0	0	0	0	0	0	1	5665	962	34	2		2	FANCD2	3	10107141	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		10107141	187915289	4	33903											
STT3B	201595	broad.mit.edu	37	chr3	31638330	31638330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagttttttggacaatgtGctgctgcttatcctatttct	8	8	2	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:31638330G>A	ENST00000295770.2	+	4	961	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	251					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGACAATGTGCTGCTGCTTA	0.318																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(751-753)tGc>tAc		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							135	133	133					3																	31638330		2202	4296	6498	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31638330G>A	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.752G>A	3.37:g.31638330G>A	ENSP00000295770:p.Cys251Tyr					STT3B_ENST00000453168.1_3'UTR	p.C251Y	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			4	961	+			251					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.752G>A	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668638	0.47677	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.62	5.62	0.85841	.	0.049710	0.85682	D	0.000000	T	0.61236	0.2331	L	0.49126	1.545	0.54753	D	0.999984	B	0.24483	0.104	B	0.27380	0.079	T	0.58555	-0.7616	9	0.51188	T	0.08	-4.037	18.4188	0.90582	0.0:0.0:1.0:0.0	.	251	Q8TCJ2	STT3B_HUMAN	Y	251	.	ENSP00000295770:C251Y	C	+	2	0	STT3B	31613334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.133000	0.94460	2.633000	0.89246	0.655000	0.94253	TGC		0.318	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		5	62	0	0	0	1	0	5	62					A	31638330	G	A	31638330	3	1	363	1	0	0	0	0	1	0	0	0	15333	1319	46	2	766	2	STT3B	3	31638330	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	21531189	31638330	166384100	5	33904											
GATA2	2624	broad.mit.edu	37	chr3	128202816	128202816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgccagagaggggtggCtgtggccccacagttgacac	15	14	0	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:128202816C>T	ENST00000341105.2	-	4	1235	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GATA2_ENST00000489987.1_5'Flank|GATA2_ENST00000487848.1_Missense_Mutation_p.A302T|GATA2_ENST00000430265.2_Missense_Mutation_p.A302T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	302					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A302S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Substitution - Missense(1)	p.A302S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(904-906)Gcc>Acc		GATA binding protein 2							50	49	49					3																	128202816		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128202816C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.904G>A	3.37:g.128202816C>T	ENSP00000345681:p.Ala302Thr					GATA2_ENST00000487848.1_Missense_Mutation_p.A302T|GATA2_ENST00000430265.2_Missense_Mutation_p.A302T	p.A302T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	4	1235	-			302					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.904G>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430356	0.96150	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99413	-5.86;-5.86;-5.86	4.83	4.83	0.62350	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.052578	0.85682	D	0.000000	D	0.96623	0.8898	N	0.02802	-0.49	0.58432	D	0.999997	P;B	0.42296	0.775;0.013	B;B	0.38156	0.266;0.063	D	0.97875	1.0288	10	0.72032	D	0.01	-7.5719	17.9063	0.88919	0.0:1.0:0.0:0.0	.	302;302	P23769-2;P23769	.;GATA2_HUMAN	T	302	ENSP00000345681:A302T;ENSP00000400259:A302T;ENSP00000417074:A302T	ENSP00000345681:A302T	A	-	1	0	GATA2	129685506	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.174000	0.65015	2.205000	0.71048	0.491000	0.48974	GCC		0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		5	88	0	0	0	1	0	5	88					T	128202816	C	T	128202816	3	4	363	1	0	0	0	0	1	0	0	0	6254	797	28	2	550	2	GATA2	3	128202816	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	96564486	128202816	69819614	6	33905											
SMC4	10051	broad.mit.edu	37	chr3	160122126	160122126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaacaggaaggggatgAttatgaagtcattcctaaca	9	7	2	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:160122126A>C	ENST00000357388.3	+	5	972	c.521A>C	c.(520-522)gAt>gCt	p.D174A	SMC4_ENST00000360111.2_Missense_Mutation_p.D174A|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.D174A|RP11-432B6.3_ENST00000483754.1_Intron|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.D149A|SMC4_ENST00000344722.5_Missense_Mutation_p.D174A|MIR15B_ENST00000385045.1_RNA	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	174					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)			GAAGGGGATGATTATGAAGTC	0.338																																						ENST00000357388.3																			0				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						c.(520-522)gAt>gCt		structural maintenance of chromosomes 4							60	61	60					3																	160122126		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160122126A>C	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.521A>C	3.37:g.160122126A>C	ENSP00000349961:p.Asp174Ala					SMC4_ENST00000469762.1_Missense_Mutation_p.D149A|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.D174A|SMC4_ENST00000360111.2_Missense_Mutation_p.D174A|SMC4_ENST00000344722.5_Missense_Mutation_p.D174A|SMC4_ENST00000470240.1_3'UTR	p.D174A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	972	+			174					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.521A>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582372	0.86748	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;0.92;-0.18;-0.18	6.16	5.0	0.66597	RecF/RecN/SMC (1);	0.045412	0.85682	D	0.000000	T	0.62829	0.2460	L	0.49455	1.56	0.80722	D	1	P;P;P	0.46859	0.659;0.885;0.683	B;P;B	0.48770	0.266;0.589;0.207	T	0.61888	-0.6970	9	.	.	.	-31.0813	12.6615	0.56815	0.9349:0.0:0.0651:0.0	.	174;149;174	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	A	174;174;174;49;49;149;174;174;174;102;174	ENSP00000349961:D174A;ENSP00000353225:D174A;ENSP00000417999:D49A;ENSP00000419360:D49A;ENSP00000417964:D149A;ENSP00000420121:D174A;ENSP00000420734:D174A;ENSP00000420817:D174A;ENSP00000417612:D102A;ENSP00000341382:D174A	.	D	+	2	0	SMC4	161604820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.367000	0.80283	0.528000	0.53228	GAT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			6	17	0	0	0	1	0	6	17					C	160122126	A	C	160122126	3	2	363	1	0	0	0	0	1	0	0	0	14785	333	12	5	535	5	SMC4	3	160122126	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	31919310	160122126	37900304	7	33906											
GBA3	57733	broad.mit.edu	37	chr4	22749309	22749309	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtctctatcactttttgCggtctggttggaaccagcag	12	9	3	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr4:22749309C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCACTTTTTGCGGTCTGGTTG	0.433																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							160	156	157					4																	22749309		1883	4097	5980			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749309C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749309C>T						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.433	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			4	179	0	0	0	1	0	4	179					T	22749309	C	T	22749309	1	4	363	0	1	0	0	0	0	0	0	0	6268	768	27	1		1	GBA3	4	22749309	RNA	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		22749309	168404967	8	33907											
KLB	152831	broad.mit.edu	37	chr4	39448955	39448955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgattccctggggggtgcGcaagctgctgcggtgggtcc	18	10	0	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr4:39448955G>A	ENST00000257408.4	+	4	2706	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	870	Glycosyl hydrolase-1 2.				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						TGGGGGGTGCGCAAGCTGCTG	0.657																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(2608-2610)cGc>cAc		klotho beta							63	68	67					4																	39448955		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448955G>A	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.2609G>A	4.37:g.39448955G>A	ENSP00000257408:p.Arg870His						p.R870H	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			4	2706	+			870			Glycosyl hydrolase-1 2.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.2609G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912354	0.92178	.	.	ENSG00000134962	ENST00000257408	T	0.36699	1.24	5.23	4.39	0.52855	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119942	0.56097	D	0.000040	T	0.62146	0.2404	M	0.83312	2.635	0.43471	D	0.99568	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.979	T	0.68796	-0.5314	10	0.87932	D	0	-7.3766	14.0442	0.64695	0.0737:0.0:0.9263:0.0	.	861;870	B7ZL50;Q86Z14	.;KLOTB_HUMAN	H	870	ENSP00000257408:R870H	ENSP00000257408:R870H	R	+	2	0	KLB	39125350	1.000000	0.71417	0.010000	0.14722	0.261000	0.26267	6.650000	0.74368	1.200000	0.43188	0.313000	0.20887	CGC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		5	162	0	0	0	1	0	5	162					A	39448955	G	A	39448955	3	1	363	1	0	0	0	0	1	0	0	0	8332	1087	38	1	2623	1	KLB	4	39448955	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	16699646	39448955	151705321	9	33908											
PRDM1	639	broad.mit.edu	37	chr6	106553787	106553787	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgtttgcgccaagactttCggccagctctccaatctgaa	8	13	2	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr6:106553787C>T	ENST00000369096.4	+	5	1986	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	PRDM1_ENST00000369089.3_Silent_p.F450F|PRDM1_ENST00000369091.2_Silent_p.F548F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	584					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCAAGACTTTCGGCCAGCTCT	0.493			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1750-1752)ttC>ttT		PR domain containing 1, with ZNF domain							51	46	48					6																	106553787		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553787C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1752C>T	6.37:g.106553787C>T						PRDM1_ENST00000369091.2_Silent_p.F548F|PRDM1_ENST00000369089.3_Silent_p.F450F	p.F584F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1986	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	584					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.1752C>T	CCDS5054.2																																																																																				0.493	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			4	57	0	0	0	1	0	4	57					T	106553787	C	T	106553787	2	4	363	1	0	0	0	0	0	0	0	1	12450	883	31	1		1	PRDM1	6	106553787	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		106553787	64561280	10	33909											
KLHL7	55975	broad.mit.edu	37	chr7	23213883	23213883	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaatttgtgttgtcgataCttgtggagcaaatgaagaga	11	3	0	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:23213883C>G	ENST00000339077.5	+	11	1970	c.1727C>G	c.(1726-1728)aCt>aGt	p.T576S	AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.T554S|KLHL7_ENST00000322231.7_Missense_Mutation_p.T554S|KLHL7_ENST00000539124.1_Missense_Mutation_p.T500S|KLHL7_ENST00000542558.1_Missense_Mutation_p.T351S|KLHL7_ENST00000409689.1_Missense_Mutation_p.T528S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	576					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						GTTGTCGATACTTGTGGAGCA	0.408																																						ENST00000322231.7																			0				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						c.(1660-1662)aCt>aGt		kelch-like family member 7							131	130	130					7																	23213883		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23213883C>G		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.1727C>G	7.37:g.23213883C>G	ENSP00000343273:p.Thr576Ser					AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.T576S|KLHL7_ENST00000542558.1_Missense_Mutation_p.T351S|KLHL7_ENST00000545443.1_Missense_Mutation_p.T554S|KLHL7_ENST00000539124.1_Missense_Mutation_p.T500S|KLHL7_ENST00000409689.1_Missense_Mutation_p.T528S	p.T554S			Q8IXQ5	KLHL7_HUMAN			12	2151	+			576					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1661C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432954	0.62844	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.72505	-0.53;-0.53;-0.49;-0.66;-0.52;-0.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.29908	0.895	0.58432	D	0.999998	B;B;B	0.34290	0.036;0.319;0.447	B;P;P	0.52514	0.014;0.506;0.701	T	0.70414	-0.4878	10	0.28530	T	0.3	.	19.3302	0.94283	0.0:1.0:0.0:0.0	.	351;576;554	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	S	417;554;576;500;351;528;554	ENSP00000322958:T554S;ENSP00000343273:T576S;ENSP00000441136:T500S;ENSP00000442367:T351S;ENSP00000386263:T528S;ENSP00000442366:T554S	ENSP00000322958:T554S	T	+	2	0	KLHL7	23180408	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.294000	0.78760	2.566000	0.86566	0.655000	0.94253	ACT		0.408	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		15	66	0	0	0	1	0	15	66					G	23213883	C	G	23213883	3	3	363	1	0	0	0	0	1	0	0	0	8394	565	20	4	1832	4	KLHL7	7	23213883	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		23213883	135924780	11	33910											
ZNF117	51351	broad.mit.edu	37	chr7	64441776	64441776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttacctaaatgtttaGctaccatctcatgtctcttc	3	13	3	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:64441776G>A	ENST00000282869.6	-	3	1307	c.23C>T	c.(22-24)gCt>gTt	p.A8V		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	8					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(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAATGTTTAGCTACCATCTC	0.423																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(22-24)gCt>gTt		zinc finger protein 117							226	230	229					7																	64441776		2203	4300	6503	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64441776G>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.23C>T	7.37:g.64441776G>A	ENSP00000282869:p.Ala8Val						p.A8V	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			3	1307	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	8					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.23C>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246140	0.22796	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.10382	2.88	0.713	-1.29	0.09288	.	.	.	.	.	T	0.10380	0.0254	L	0.59436	1.845	0.09310	N	1	P	0.41313	0.745	B	0.39258	0.295	T	0.16041	-1.0416	9	0.56958	D	0.05	.	4.7789	0.13192	0.0:0.0:0.3413:0.6587	.	8	Q03924	ZN117_HUMAN	V	8	ENSP00000282869:A8V	ENSP00000282869:A8V	A	-	2	0	ZNF117	64079211	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	0.065000	0.14466	-0.425000	0.07371	0.313000	0.20887	GCT		0.423	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		18	106	0	0	0	1	0	18	106					A	64441776	G	A	64441776	3	1	363	1	0	0	0	0	1	0	0	0	17714	971	34	2	1436	2	ZNF117	7	64441776	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	41227893	64441776	94696887	12	33911											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631511	99631511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctggagagaaaccttaTgaatgtaatgagtgcgggaa	12	6	1	3	rs200041966		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:99631511T>C	ENST00000324306.6	+	6	1617	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	ZKSCAN1_ENST00000426572.1_Silent_p.Y425Y|ZKSCAN1_ENST00000535170.1_Silent_p.Y248Y	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	461					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAAACCTTATGAATGTAATG	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		20500	0.0		0.001	False		,,,				2504	0.0					ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1381-1383)taT>taC		zinc finger with KRAB and SCAN domains 1							140	145	143					7																	99631511		2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631511T>C	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1383T>C	7.37:g.99631511T>C						ZKSCAN1_ENST00000535170.1_Silent_p.Y248Y|ZKSCAN1_ENST00000426572.1_Silent_p.Y425Y	p.Y461Y	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1617	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		461					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1383T>C	CCDS34698.1																																																																																				0.502	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		104	153	0	0	0	1	0	104	153					C	99631511	T	C	99631511	2	2	363	1	0	0	0	0	0	0	0	1	17683	1471	51	3		3	ZKSCAN1	7	99631511	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	35189735	99631511	59507152	13	33912											
GATA4	2626	broad.mit.edu	37	chr8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctaccacaagatgaacGgcatcaaccggccgctcatc	8	16	3	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:11606556G>A	ENST00000335135.4	+	3	1303	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	249					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|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)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|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)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637																																						ENST00000335135.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(745-747)Ggc>Agc		GATA binding protein 4							69	60	63					8																	11606556		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11606556G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.745G>A	8.37:g.11606556G>A	ENSP00000334458:p.Gly249Ser					GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	p.G249S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	3	1303	+	all_epithelial(15;0.0839)		249					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.745G>A	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.869422	0.97049	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31	5.61	5.61	0.85477	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (3);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.72338	0.897;0.977	D	0.97915	1.0311	10	0.87932	D	0	-10.1498	18.9896	0.92786	0.0:0.0:1.0:0.0	.	250;249	B7ZKZ4;P43694	.;GATA4_HUMAN	S	43;43;249;248;250	ENSP00000435043:G43S;ENSP00000435347:G43S;ENSP00000334458:G249S;ENSP00000435712:G250S	ENSP00000259090:G248S	G	+	1	0	GATA4	11643965	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.515000	0.98015	2.793000	0.96121	0.655000	0.94253	GGC		0.637	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		11	69	0	0	0	1	0	11	69					A	11606556	G	A	11606556	3	1	363	1	0	0	0	0	1	0	0	0	6256	1116	39	1	751	1	GATA4	8	11606556	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		11606556	134757466	14	33913											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	15	0	0	0	1	0	7	15					G	41790659	T	G	41790659	2	3	363	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	30184103	41790659	104573363	15	33914											
CNGB3	54714	broad.mit.edu	37	chr8	87641261	87641261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcatccatgcaggcgcGgaagtagttctgattggctg	15	8	2	1	rs544695310		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:87641261G>A	ENST00000320005.5	-	12	1413	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	456					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGCAGGCGCGGAAGTAGTTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18777	0.001		0.0	False		,,,				2504	0.0					ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1366-1368)Cgc>Tgc		cyclic nucleotide gated channel beta 3							240	226	230					8																	87641261		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87641261G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1366C>T	8.37:g.87641261G>A	ENSP00000316605:p.Arg456Cys						p.R456C	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			12	1413	-			456					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1366C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909155	0.72868	.	.	ENSG00000170289	ENST00000320005	D	0.97138	-4.26	5.92	5.92	0.95590	Cyclic nucleotide-binding-like (1);	0.132851	0.51477	D	0.000098	D	0.98754	0.9581	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.99267	1.0892	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	456;456	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	C	456	ENSP00000316605:R456C	ENSP00000316605:R456C	R	-	1	0	CNGB3	87710377	1.000000	0.71417	0.997000	0.53966	0.421000	0.31385	5.647000	0.67923	2.811000	0.96726	0.555000	0.69702	CGC		0.438	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		4	204	0	0	0	1	0	4	204					A	87641261	G	A	87641261	3	1	363	1	0	0	0	0	1	0	0	0	3601	1116	39	1	1091	1	CNGB3	8	87641261	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	45850602	87641261	58722761	16	33915											
C8orf47	203111	broad.mit.edu	37	chr8	99102249	99102249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactaatgaagaggaccaacGcattgaaggtaaaagttatg	10	5	0	3	rs575526227		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:99102249G>A	ENST00000318528.3	+	2	1363	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		335	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGACCAACGCATTGAAGGT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21967	0.001		0.0	False		,,,				2504	0.0					ENST00000318528.3																			0				kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13						c.(1003-1005)cGc>cAc		chromosome 8 open reading frame 47							84	69	74					8																	99102249		2203	4300	6503	SO:0001583	missense	203111							g.chr8:99102249G>A																												ENST00000318528.3:c.1004G>A	8.37:g.99102249G>A	ENSP00000315614:p.Arg335His					C8orf47_ENST00000545282.1_Intron	p.R335H	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	1363	+	Breast(36;2.31e-06)		335			Glu-rich.		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.1004G>A	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	G	2.446	-0.327596	0.05314	.	.	ENSG00000177459	ENST00000318528	T	0.21734	1.99	5.13	-1.58	0.08479	.	0.899599	0.09476	N	0.796989	T	0.04588	0.0125	N	0.00972	-1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40701	-0.9549	10	0.02654	T	1	-22.9883	5.122	0.14865	0.4479:0.1787:0.3733:0.0	.	335	Q6P6B1	CH047_HUMAN	H	335	ENSP00000315614:R335H	ENSP00000315614:R335H	R	+	2	0	C8orf47	99171425	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	0.379000	0.20585	-0.102000	0.12197	-1.004000	0.02495	CGC		0.483	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			24	60	0	0	0	1	0	24	60					A	99102249	G	A	99102249	3	1	363	1	0	0	0	0	1	0	0	0	2432	1087	38	1	1010	1	C8orf47	8	99102249	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	11460988	99102249	47261773	17	33916											
AKAP2	11217	broad.mit.edu	37	chr9	112918731	112918731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaccctcatggaagactAtgagacacacaaatctaaaa	7	10	2	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr9:112918731A>G	ENST00000259318.7	+	3	2642	c.2435A>G	c.(2434-2436)tAt>tGt	p.Y812C	AKAP2_ENST00000555236.1_Missense_Mutation_p.Y1043C|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Y1043C|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y901C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y1043C|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y901C|AKAP2_ENST00000510514.5_Missense_Mutation_p.Y1043C|AKAP2_ENST00000482335.1_Intron	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	812										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ATGGAAGACTATGAGACACAC	0.537																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3127-3129)tAt>tGt									97	96	96					9																	112918731		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112918731A>G	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.2435A>G	9.37:g.112918731A>G	ENSP00000259318:p.Tyr812Cys					AKAP2_ENST00000510514.5_Missense_Mutation_p.Y1043C|AKAP2_ENST00000555236.1_Missense_Mutation_p.Y1043C|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y901C|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y901C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y1043C|AKAP2_ENST00000259318.7_Missense_Mutation_p.Y812C|AKAP2_ENST00000482335.1_Intron	p.Y1043C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			9	3308	+			812					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3128A>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801058	0.70567	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.48	5.48	0.80851	.	0.061929	0.64402	D	0.000003	T	0.49253	0.1546	L	0.47716	1.5	0.50632	D	0.999886	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.991;0.999;0.991;0.994;0.994	T	0.47548	-0.9109	10	0.59425	D	0.04	-14.6639	15.0551	0.71908	1.0:0.0:0.0:0.0	.	812;901;902;1043;1043	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	C	1043;1043;1043;1043;901;901;812	ENSP00000363654:Y1043C;ENSP00000305861:Y1043C;ENSP00000451476:Y1043C;ENSP00000421522:Y1043C;ENSP00000404782:Y901C;ENSP00000363649:Y901C;ENSP00000259318:Y812C	ENSP00000259318:Y812C	Y	+	2	0	PALM2-AKAP2;AKAP2	111958552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.276000	0.65580	2.205000	0.71048	0.533000	0.62120	TAT		0.537	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		13	70	0	0	0	1	0	13	70					G	112918731	A	G	112918731	3	3	363	1	0	0	0	0	1	0	0	0	451	449	16	3	2712	3	AKAP2	9	112918731	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		112918731	28294700	18	33917											
EMX2	2018	broad.mit.edu	37	chr10	119303012	119303012	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgaggcggtctcgcacccGcccaaccccgccgtgccagt	12	20	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr10:119303012G>C	ENST00000553456.3	+	1	1058	c.234G>C	c.(232-234)ccG>ccC	p.P78P	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.P78P	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	78					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCTCGCACCCGCCCAACCCCG	0.741																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(232-234)ccG>ccC		empty spiracles homeobox 2							12	15	14					10																	119303012		2175	4228	6403	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303012G>C	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.234G>C	10.37:g.119303012G>C						EMX2_ENST00000442245.4_Silent_p.P78P|EMX2OS_ENST00000551288.1_RNA	p.P78P	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1058	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	78					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.234G>C	CCDS7601.1																																																																																				0.741	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		10	25	0	0	0	1	0	10	25					C	119303012	G	C	119303012	2	2	363	1	0	0	0	0	0	0	0	1	5108	1074	38	4		4	EMX2	10	119303012	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		119303012	16231735	19	33918											
PKP3	11187	broad.mit.edu	37	chr11	397651	397651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctacagcgatgcagccGccaagaagcaggtgaccacc	12	13	0	2	rs148819261		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:397651G>A	ENST00000331563.2	+	4	1133	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	353					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)		CGATGCAGCCGCCAAGAAGCA	0.637																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1057-1059)Gcc>Acc		plakophilin 3			THR/ALA	3,4393	6.2+/-15.9	0,3,2195	61	49	53		1057	4.4	0.5	11	dbSNP_134	53	0,8586		0,0,4293	no	missense	PKP3	NM_007183.2	58	0,3,6488	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	353/798	397651	3,12979	2198	4293	6491	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:397651G>A	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.1057G>A	11.37:g.397651G>A	ENSP00000331678:p.Ala353Thr						p.A353T	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		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)	4	1133	+		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)	353					F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.1057G>A	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	19.26	3.793789	0.70452	6.82E-4	0.0	ENSG00000184363	ENST00000533249;ENST00000331563	T	0.47528	0.84	4.45	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.060946	0.64402	D	0.000004	T	0.66626	0.2808	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.66893	-0.5808	10	0.36615	T	0.2	-20.8877	17.1025	0.86653	0.0:0.0:1.0:0.0	.	353	Q9Y446	PKP3_HUMAN	T	197;353	ENSP00000331678:A353T	ENSP00000331678:A353T	A	+	1	0	PKP3	387651	1.000000	0.71417	0.482000	0.27366	0.071000	0.16799	4.017000	0.57167	2.219000	0.72066	0.556000	0.70494	GCC		0.637	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		7	55	0	0	0	1	0	7	55					A	397651	G	A	397651	3	1	363	1	0	0	0	0	1	0	0	0	11986	1087	38	1	1071	1	PKP3	11	397651	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		397651	134608865	20	33919											
AP2A2	161	broad.mit.edu	37	chr11	986944	986944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatcgagacggtcatcaaCgccctgaaggcgagtgccct	11	14	2	2	rs376964234		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:986944C>T	ENST00000448903.2	+	9	1263	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.N375N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	374					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)		CGGTCATCAACGCCCTGAAGG	0.617																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1120-1122)aaC>aaT		adaptor-related protein complex 2, alpha 2 subunit		C	,	2,4334		0,2,2166	48	55	53		1125,1122	-6.6	0.4	11		53	0,8508		0,0,4254	no	coding-synonymous,coding-synonymous	AP2A2	NM_001242837.1,NM_012305.3	,	0,2,6420	TT,TC,CC		0.0,0.0461,0.0156	,	375/941,374/940	986944	2,12842	2168	4254	6422	SO:0001819	synonymous_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:986944C>T	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.1122C>T	11.37:g.986944C>T						AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.N375N	p.N374N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		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)	9	1263	+		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)	374					O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	c.1122C>T	CCDS44512.1																																																																																				0.617	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		3	12	0	0	0	1	0	3	12					T	986944	C	T	986944	2	4	363	1	0	0	0	0	0	0	0	1	740	535	19	1		1	AP2A2	11	986944	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	589293	986944	134019572	21	33920											
PRDM11	56981	broad.mit.edu	37	chr11	45117366	45117366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagggttcaatgttgaagAtggcagagccaattgcatcc	13	7	1	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:45117366A>G	ENST00000530656.1	+	1	10	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	PRDM11_ENST00000263765.4_Missense_Mutation_p.M4V			Q9NQV5	PRD11_HUMAN	PR domain containing 11	4							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						aatgttgaagatggcagagcc	0.507																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(10-12)Atg>Gtg		PR domain containing 11							164	131	142					11																	45117366		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45117366A>G	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.10A>G	11.37:g.45117366A>G	ENSP00000435976:p.Met4Val					PRDM11_ENST00000530656.1_Missense_Mutation_p.M4V	p.M4V			Q9NQV5	PRD11_HUMAN			2	259	+			4					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.10A>G		.	.	.	.	.	.	.	.	.	.	A	9.235	1.036838	0.19669	.	.	ENSG00000019485	ENST00000263765;ENST00000530656	T;T	0.20069	2.1;2.1	2.93	2.93	0.34026	.	.	.	.	.	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16247	-1.0409	9	0.87932	D	0	.	7.6587	0.28389	1.0:0.0:0.0:0.0	.	4	Q9NQV5	PRD11_HUMAN	V	4	ENSP00000263765:M4V;ENSP00000435976:M4V	ENSP00000263765:M4V	M	+	1	0	PRDM11	45073942	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.130000	0.15850	1.577000	0.49804	0.459000	0.35465	ATG		0.507	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		27	51	0	0	0	1	0	27	51					G	45117366	A	G	45117366	3	3	363	1	0	0	0	0	1	0	0	0	12452	333	12	3	12	3	PRDM11	11	45117366	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	44130422	45117366	89889150	22	33921											
OR5D18	219438	broad.mit.edu	37	chr11	55587452	55587452	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactgaatcctttttatTagctgtgatggcctatgacc	9	9	1	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:55587452T>G	ENST00000333976.4	+	1	367	c.347T>G	c.(346-348)tTa>tGa	p.L116*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	116						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(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCTTTTTATTAGCTGTGATG	0.443																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(346-348)tTa>tGa		olfactory receptor, family 5, subfamily D, member 18							157	157	157					11																	55587452		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587452T>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.347T>G	11.37:g.55587452T>G	ENSP00000335025:p.Leu116*						p.L116*	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	367	+		all_epithelial(135;0.208)	116					Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.347T>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779221	0.31502	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.84	2.4	0.29515	.	0.000000	0.30869	N	0.008714	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7796	9.4221	0.38557	0.2833:0.0:0.0:0.7167	.	.	.	.	X	116	.	ENSP00000335025:L116X	L	+	2	0	OR5D18	55344028	0.971000	0.33674	0.001000	0.08648	0.333000	0.28666	7.682000	0.84083	0.288000	0.22398	0.457000	0.33378	TTA		0.443	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		70	114	0	0	0	1	0	70	114					G	55587452	T	G	55587452	4	3	363	1	0	0	0	0	0	1	0	0	11157	1764	61	5	349	5	OR5D18	11	55587452	Nonsense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	10470086	55587452	79419064	23	33922											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	9	11	0	0	rs559230605	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84	93	90					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"cerebello-oculo-renal syndrome 2", "Meckel syndrome, type 2"	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	7	23	0	0	0	1	0	7	23					G	61161357	T	G	61161357	5	3	363	1	0	0	0	0	0	0	1	0	16136	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	5573905	61161357	73845159	24	33923											
PDE2A	5138	broad.mit.edu	37	chr11	72292936	72292936	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaaccgggccagggtcgggCagtcaattttgtagttgttg	15	8	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:72292936C>A	ENST00000334456.5	-	22	2152	c.1907G>T	c.(1906-1908)tGc>tTc	p.C636F	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000376450.3_Missense_Mutation_p.C380F|PDE2A_ENST00000418754.2_Missense_Mutation_p.C521F|PDE2A_ENST00000540345.1_Missense_Mutation_p.C627F|PDE2A_ENST00000544570.1_Missense_Mutation_p.C629F|PDE2A_ENST00000444035.2_Missense_Mutation_p.C627F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	636	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CAGGGTCGGGCAGTCAATTTT	0.577																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1906-1908)tGc>tTc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						76	77	77					11																	72292936		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292936C>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1907G>T	11.37:g.72292936C>A	ENSP00000334910:p.Cys636Phe					PDE2A_ENST00000544570.1_Missense_Mutation_p.C629F|PDE2A_ENST00000376450.3_Missense_Mutation_p.C380F|PDE2A_ENST00000540345.1_Missense_Mutation_p.C627F|PDE2A_ENST00000444035.2_Missense_Mutation_p.C627F|PDE2A_ENST00000418754.2_Missense_Mutation_p.C521F	p.C636F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		22	2152	-			636			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1907G>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858480	0.17178	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.71	5.71	0.89125	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.296062	0.33496	N	0.004854	T	0.60637	0.2284	N	0.22421	0.69	0.43522	D	0.995798	B;B;B;B;B;B	0.25809	0.064;0.026;0.047;0.131;0.026;0.135	B;B;B;B;B;B	0.24006	0.041;0.023;0.023;0.05;0.023;0.004	T	0.56836	-0.7913	10	0.10902	T	0.67	.	16.5862	0.84727	0.0:1.0:0.0:0.0	.	521;636;627;629;636;380	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	F	636;380;627;705;629;521;627;15;177;67	ENSP00000334910:C636F;ENSP00000365633:C380F;ENSP00000411657:C627F;ENSP00000442256:C629F;ENSP00000410310:C521F;ENSP00000446399:C627F;ENSP00000388997:C15F;ENSP00000392457:C177F;ENSP00000440834:C67F	ENSP00000334910:C636F	C	-	2	0	PDE2A	71970584	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.564000	0.67359	2.711000	0.92665	0.563000	0.77884	TGC		0.577	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		9	63	1	0	2.74318e-10	1	2.87809e-10	9	63					A	72292936	C	A	72292936	3	1	363	1	0	0	0	0	1	0	0	0	11636	710	25	4	958	4	PDE2A	11	72292936	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11131579	72292936	62713580	25	33924											
ANO2	57101	broad.mit.edu	37	chr12	5708718	5708718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctaggtcccactgctctGgatgtttcgaatgggcagag	13	9	2	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:5708718G>A	ENST00000356134.5	-	22	2239	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L	ANO2_ENST00000546188.1_Missense_Mutation_p.P723L|ANO2_ENST00000327087.8_Missense_Mutation_p.P722L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	727					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTGCTCTGGATGTTTCGA	0.473																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2164-2166)cCa>cTa		anoctamin 2							209	212	211					12																	5708718		2173	4276	6449	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5708718G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2168C>T	12.37:g.5708718G>A	ENSP00000348453:p.Pro723Leu					ANO2_ENST00000546188.1_Missense_Mutation_p.P723L|ANO2_ENST00000356134.5_Missense_Mutation_p.P723L	p.P722L			Q9NQ90	ANO2_HUMAN			21	2236	-			727					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2165C>T		.	.	.	.	.	.	.	.	.	.	G	11.35	1.612875	0.28712	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.58652	0.32;0.32;0.32	5.55	5.55	0.83447	.	0.059176	0.64402	D	0.000002	T	0.31295	0.0792	N	0.02379	-0.575	0.58432	D	0.999995	B	0.10296	0.003	B	0.17979	0.02	T	0.31251	-0.9950	10	0.06494	T	0.89	.	16.9868	0.86341	0.0:0.0:1.0:0.0	.	722	Q9NQ90-3	.	L	722;723;723;727	ENSP00000314048:P722L;ENSP00000348453:P723L;ENSP00000440981:P723L	ENSP00000314048:P722L	P	-	2	0	ANO2	5578979	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.963000	0.70372	2.611000	0.88343	0.563000	0.77884	CCA		0.473	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		21	115	0	0	0	1	0	21	115					A	5708718	G	A	5708718	3	1	363	1	0	0	0	0	1	0	0	0	697	1348	47	2	855	2	ANO2	12	5708718	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		5708718	128143177	26	33925											
LAG3	3902	broad.mit.edu	37	chr12	6882941	6882942	+	Frame_Shift_Ins	INS	-	-	C													cctcctcctgggggcccaggINSccccgccgctacacggtgct							TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6882941_6882942insC	ENST00000203629.2	+	3	618_619	c.285_286insC	c.(286-288)cccfs	p.P96fs	LAG3_ENST00000441671.2_Frame_Shift_Ins_p.P96fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	96	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGGCCCAGGCCCCGCCGCTA	0.792																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(283-288)agcccgfs		lymphocyte-activation gene 3																																				SO:0001589	frameshift_variant	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6882941_6882942insC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.289dupC	12.37:g.6882945_6882945dupC	ENSP00000203629:p.Pro96fs					LAG3_ENST00000441671.2_Frame_Shift_Ins_p.SP95fs	p.SP95fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			3	618_619	+			95			Ig-like V-type.		A8K7T9|Q7Z643	Frame_Shift_Ins	INS	ENST00000203629.2	37	c.285_286insC	CCDS8561.1																																																																																				0.792	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			3	5						3	5	---	---	---	---	C	6882942	-	C	6882941	7	5	363	1	0	1	1	0	0	0	0	0	8600	1194	42	0	295	0	LAG3	12	6882941	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	1174223	6882941	126968954	27	33926											
GPR162	27239	broad.mit.edu	37	chr12	6933811	6933811	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccattgtggtggaggatgcCcgagggaagcggcggtcctc	18	10	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6933811C>A	ENST00000311268.3	+	2	1534	c.747C>A	c.(745-747)gcC>gcA	p.A249A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGAGGATGCCCGAGGGAAGC	0.642																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(745-747)gcC>gcA		G protein-coupled receptor 162							47	49	48					12																	6933811		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933811C>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.747C>A	12.37:g.6933811C>A						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	p.A249A	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1534	+			249					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.747C>A	CCDS8563.1																																																																																				0.642	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		4	93	1	0	2.56e-06	1	2.60063e-06	4	93					A	6933811	C	A	6933811	2	1	363	1	0	0	0	0	0	0	0	1	6666	610	22	4		4	GPR162	12	6933811	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	50870	6933811	126918084	28	33927											
PEX5	5830	broad.mit.edu	37	chr12	7362771	7362771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctatggggcagccgaCgcgcgggatctgtccaccct	14	14	1	0	rs148914171	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:7362771C>T	ENST00000455147.2	+	17	2452	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	PEX5_ENST00000266563.5_Silent_p.D587D|PEX5_ENST00000266564.3_Silent_p.D616D|PEX5_ENST00000412720.2_Silent_p.D645D|PEX5_ENST00000420616.2_Silent_p.D624D|PEX5_ENST00000434354.2_Silent_p.D639D	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	624					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGCAGCCGACGCGCGGGATC	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(1759-1761)gaC>gaT		peroxisomal biogenesis factor 5		C	,,,,	4,4402	8.1+/-20.4	0,4,2199	84	75	78		1848,1917,1761,1872,1872	-0.2	1	12	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PEX5	NM_000319.4,NM_001131023.1,NM_001131024.1,NM_001131025.1,NM_001131026.1	,,,,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,,,,	616/632,639/655,587/603,624/640,624/640	7362771	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7362771C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1872C>T	12.37:g.7362771C>T						PEX5_ENST00000412720.2_Silent_p.D645D|PEX5_ENST00000420616.2_Silent_p.D624D|PEX5_ENST00000266564.3_Silent_p.D616D|PEX5_ENST00000455147.2_Silent_p.D624D|PEX5_ENST00000434354.2_Silent_p.D639D	p.D587D	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			15	1944	+			624					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.1761C>T	CCDS44823.1																																																																																				0.627	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		15	104	0	0	0	1	0	15	104					T	7362771	C	T	7362771	2	4	363	1	0	0	0	0	0	0	0	1	11748	535	19	1		1	PEX5	12	7362771	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	428960	7362771	126489124	29	33928											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028269	21028269	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatttcttccataccattTtttttcttgccgaaaaatcc	2	10	2	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:21028269T>C	ENST00000381545.3	+	9	1047	c.828T>C	c.(826-828)ttT>ttC	p.F276F	SLCO1B3_ENST00000553473.1_Silent_p.F276F|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.F276F|LST3_ENST00000540229.1_Silent_p.F276F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	276					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CCATACCATTTTTTTTCTTGC	0.358																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttT>ttC		solute carrier organic anion transporter family, member 1B3							133	130	131					12																	21028269		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028269T>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.828T>C	12.37:g.21028269T>C						LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F276F|LST3_ENST00000540229.1_Silent_p.F276F|SLCO1B3_ENST00000261196.2_Silent_p.F276F|SLCO1B7_ENST00000554957.1_Intron	p.F276F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1047	+	Esophageal squamous(101;0.149)		276					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.828T>C	CCDS8684.1																																																																																				0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		32	65	0	0	0	1	0	32	65					C	21028269	T	C	21028269	2	2	363	1	0	0	0	0	0	0	0	1	14724	1838	64	3		3	SLCO1B3	12	21028269	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	13665498	21028269	112823626	30	33929											
KRT73	319101	broad.mit.edu	37	chr12	53010008	53010008	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagctccgagtccagcctcaCcctgtccccagacagcgtct	8	19	2	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:53010008C>G	ENST00000305748.3	-	2	638	c.604G>C	c.(604-606)Gtg>Ctg	p.V202L	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	202	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCCTCACCCTGTCCCCA	0.612																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(604-606)Gtg>Ctg		keratin 73							172	155	161					12																	53010008		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53010008C>G	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.604G>C	12.37:g.53010008C>G	ENSP00000307014:p.Val202Leu						p.V202L	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	638	-			202			Coil 1B.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.604G>C	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271660	0.23221	.	.	ENSG00000186049	ENST00000305748	D	0.91407	-2.84	5.07	4.18	0.49190	Filament (1);	0.000000	0.47455	D	0.000227	T	0.77598	0.4154	N	0.02275	-0.615	0.27063	N	0.963514	B	0.20052	0.041	B	0.26864	0.074	T	0.68671	-0.5347	10	0.34782	T	0.22	.	11.4977	0.50419	0.0:0.8041:0.1253:0.0706	.	202	Q86Y46	K2C73_HUMAN	L	202	ENSP00000307014:V202L	ENSP00000307014:V202L	V	-	1	0	KRT73	51296275	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.059000	0.14322	1.453000	0.47775	0.655000	0.94253	GTG		0.612	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		25	110	0	0	0	1	0	25	110					G	53010008	C	G	53010008	3	3	363	1	0	0	0	0	1	0	0	0	8486	507	18	4	1050	4	KRT73	12	53010008	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	31981739	53010008	80841887	31	33930											
ITGA5	3678	broad.mit.edu	37	chr12	54795993	54795993	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgacgagtcctgagtactCagcctctggaggggcggtga	15	10	3	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:54795993C>G	ENST00000293379.4	-	20	2365	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	702					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|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)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTGAGTACTCAGCCTCTGGA	0.587																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2104-2106)Gag>Cag		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							85	80	81					12																	54795993		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795993C>G		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2104G>C	12.37:g.54795993C>G	ENSP00000293379:p.Glu702Gln					RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.E702Q	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			20	2365	-			702					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2104G>C	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949985	0.92660	.	.	ENSG00000161638	ENST00000293379	T	0.44881	0.91	5.18	5.18	0.71444	Integrin alpha-2 (1);	0.047372	0.85682	D	0.000000	T	0.55337	0.1914	L	0.43152	1.355	0.58432	D	0.999996	D	0.63880	0.993	D	0.63488	0.915	T	0.55224	-0.8174	10	0.56958	D	0.05	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	702	P08648	ITA5_HUMAN	Q	702	ENSP00000293379:E702Q	ENSP00000293379:E702Q	E	-	1	0	ITGA5	53082260	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	5.663000	0.68038	2.599000	0.87857	0.561000	0.74099	GAG		0.587	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			19	56	0	0	0	1	0	19	56					G	54795993	C	G	54795993	3	3	363	1	0	0	0	0	1	0	0	0	7879	835	29	4	1089	4	ITGA5	12	54795993	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	1785985	54795993	79055902	32	33931											
PTPRB	5787	broad.mit.edu	37	chr12	70949900	70949900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggagttctgaggccgGcaatgcaggttttgtatctt	14	8	2	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:70949900G>A	ENST00000261266.5	-	17	4118	c.4089C>T	c.(4087-4089)tgC>tgT	p.C1363C	PTPRB_ENST00000451516.2_Silent_p.C1273C|PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000334414.6_Silent_p.C1581C|PTPRB_ENST00000550857.1_Silent_p.C1273C|PTPRB_ENST00000538708.1_Silent_p.C1273C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1363	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGAGGCCGGCAATGCAGGT	0.458																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4741-4743)tgC>tgT		protein tyrosine phosphatase, receptor type, B							40	37	38					12																	70949900		1837	4090	5927	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949900G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4089C>T	12.37:g.70949900G>A						PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000538708.1_Silent_p.C1273C|PTPRB_ENST00000550857.1_Silent_p.C1273C|PTPRB_ENST00000261266.5_Silent_p.C1363C|PTPRB_ENST00000451516.2_Silent_p.C1273C	p.C1581C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	4787	-	Renal(347;0.236)		1363					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4743C>T	CCDS44944.1																																																																																				0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			8	25	0	0	0	1	0	8	25					A	70949900	G	A	70949900	2	1	363	1	0	0	0	0	0	0	0	1	12796	1195	42	2		2	PTPRB	12	70949900	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	16153907	70949900	62901995	33	33932											
OR11H12	440153	broad.mit.edu	37	chr14	19377724	19377724	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattcagatcttcctcttctCactctttactacaacatatg	2	12	5	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:19377724C>T	ENST00000550708.1	+	1	203	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	44						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(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTCTTCTCACTCTTTACT	0.413																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(130-132)tCa>tTa		olfactory receptor, family 11, subfamily H, member 12							59	62	61					14																	19377724		2198	4294	6492	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377724C>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.131C>T	14.37:g.19377724C>T	ENSP00000449002:p.Ser44Leu						p.S44L	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	203	+	all_cancers(95;0.00108)		44						Missense_Mutation	SNP	ENST00000550708.1	37	c.131C>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.769200	0.00645	.	.	ENSG00000257115	ENST00000550708	T	0.00397	7.57	.	.	.	.	0.573954	0.12919	U	0.428325	T	0.00109	0.0003	N	0.04994	-0.135	0.24539	N	0.994079	B	0.12013	0.005	B	0.11329	0.006	T	0.06991	-1.0796	8	0.08179	T	0.78	.	2.8235	0.05479	0.0:0.591:0.0:0.409	.	44	B2RN74	O11HC_HUMAN	L	44	ENSP00000449002:S44L	ENSP00000449002:S44L	S	+	2	0	CR383656.1	18447724	0.000000	0.05858	0.902000	0.35471	0.108000	0.19459	-0.843000	0.04350	0.413000	0.25759	0.064000	0.15345	TCA		0.413	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		10	110	0	0	0	1	0	10	110					T	19377724	C	T	19377724	3	4	363	1	0	0	0	0	1	0	0	0	10927	838	29	2	133	2	OR11H12	14	19377724	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		19377724	87971816	34	33933											
ARID4A	5926	broad.mit.edu	37	chr14	58831983	58831983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcctctggtacctgtaGtataattgtacaagagagag	11	6	1	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:58831983G>C	ENST00000355431.3	+	20	3549	c.3176G>C	c.(3175-3177)aGt>aCt	p.S1059T	ARID4A_ENST00000348476.3_Missense_Mutation_p.S1059T|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1059T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1059T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1059					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						GGTACCTGTAGTATAATTGTA	0.378																																						ENST00000355431.3																			0				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						c.(3175-3177)aGt>aCt		AT rich interactive domain 4A (RBP1-like)							64	65	65					14																	58831983		2201	4290	6491	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831983G>C	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.3176G>C	14.37:g.58831983G>C	ENSP00000347602:p.Ser1059Thr					ARID4A_ENST00000348476.3_Missense_Mutation_p.S1059T|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1059T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1059T	p.S1059T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	3549	+			1059					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3176G>C	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086608	0.20390	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.22743	2.22;2.39;2.39;2.39;1.94	5.46	3.65	0.41850	.	0.482702	0.24666	N	0.036585	T	0.19208	0.0461	L	0.54323	1.7	0.21822	N	0.999527	P;B;B	0.35272	0.493;0.061;0.05	B;B;B	0.27380	0.079;0.016;0.033	T	0.09684	-1.0663	10	0.66056	D	0.02	-1.5191	11.8766	0.52550	0.1409:0.0:0.8591:0.0	.	1059;1059;1059	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	1059;1059;1059;1059;737	ENSP00000347602:S1059T;ENSP00000344556:S1059T;ENSP00000378597:S1059T;ENSP00000397368:S1059T;ENSP00000416053:S737T	ENSP00000344556:S1059T	S	+	2	0	ARID4A	57901736	1.000000	0.71417	0.053000	0.19242	0.894000	0.52154	4.108000	0.57817	0.702000	0.31825	0.557000	0.71058	AGT		0.378	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		23	47	0	0	0	1	0	23	47					C	58831983	G	C	58831983	3	2	363	1	0	0	0	0	1	0	0	0	919	1029	36	4	3250	4	ARID4A	14	58831983	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	39454259	58831983	48517557	35	33934											
DYNC1H1	1778	broad.mit.edu	37	chr14	102461153	102461154	+	Frame_Shift_Del	DEL	AG	AG	-													gacaatgcagaaaccaagaaAgagtttggaccagtagttat							TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:102461153_102461154delAG	ENST00000360184.4	+	13	3464_3465	c.3300_3301delAG	c.(3298-3303)aaagagfs	p.E1101fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1101	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						AAACCAAGAAAGAGTTTGGACC	0.436																																						ENST00000360184.4																			0				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						c.(3298-3303)aaagfs		dynein, cytoplasmic 1, heavy chain 1																																				SO:0001589	frameshift_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102461153_102461154delAG	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.3300_3301delAG	14.37:g.102461155_102461156delAG	ENSP00000348965:p.Glu1101fs						p.KE1100fs	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			13	3464_3465	+			1100			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	c.3300_3301delAG	CCDS9966.1																																																																																				0.436	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	51						8	51	---	---	---	---	-	102461154	AG	-	102461153	7	5	363	1	0	1	0	1	0	0	0	0	4841	69	3	0	3350	0	DYNC1H1	14	102461153	Frame_Shift_Del	DEL	AG	TCGA-P5-A5F4-01A-11D-A289-08	43629170	102461153	4888387	36	33935											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983273	2983273	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgcgctgcacggctgccgGagccgggccatcacccaggg	15	17	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:2983273G>A	ENST00000253928.9	+	5	1344	c.939G>A	c.(937-939)cgG>cgA	p.R313R	FLYWCH1_ENST00000399667.2_Silent_p.R313R|FLYWCH1_ENST00000416288.2_Silent_p.R312R			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	313						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						ACGGCTGCCGGAGCCGGGCCA	0.667																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(937-939)cgG>cgA		FLYWCH-type zinc finger 1							20	24	23					16																	2983273		2098	4196	6294	SO:0001819	synonymous_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983273G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.939G>A	16.37:g.2983273G>A						FLYWCH1_ENST00000253928.9_Silent_p.R313R|FLYWCH1_ENST00000416288.2_Silent_p.R312R	p.R313R			Q4VC44	FWCH1_HUMAN			5	1302	+			313					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37	c.939G>A																																																																																					0.667	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		6	21	0	0	0	1	0	6	21					A	2983273	G	A	2983273	2	1	363	1	0	0	0	0	0	0	0	1	5947	1161	41	2		2	FLYWCH1	16	2983273	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		2983273	87371480	37	33936											
ZNF48	197407	broad.mit.edu	37	chr16	30410328	30410328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtgacagttctgcccGcatcaagcaccagcgtgggc	12	12	2	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:30410328G>A	ENST00000320159.2	+	2	2133	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		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	586					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						AGTTCTGCCCGCATCAAGCAC	0.592																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1756-1758)cGc>cAc		zinc finger protein 48							105	108	107					16																	30410328		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410328G>A	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.1757G>A	16.37:g.30410328G>A	ENSP00000324056:p.Arg586His						p.R586H	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			2	2133	+			586					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1757G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709960	0.30322	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.28454	1.61	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34507	N	0.003901	T	0.19765	0.0475	N	0.24115	0.695	0.27017	N	0.964547	B	0.26363	0.147	B	0.13407	0.009	T	0.14896	-1.0456	10	0.87932	D	0	-16.7957	10.3576	0.43974	0.0:0.0:0.8042:0.1958	.	586	Q96MX3	ZNF48_HUMAN	H	711;586	ENSP00000324056:R586H	ENSP00000324056:R586H	R	+	2	0	ZNF48	30317829	0.193000	0.23313	0.954000	0.39281	0.780000	0.44128	1.880000	0.39628	2.556000	0.86216	0.557000	0.71058	CGC		0.592	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		4	156	0	0	0	1	0	4	156					A	30410328	G	A	30410328	3	1	363	1	0	0	0	0	1	0	0	0	17931	1087	38	1	1763	1	ZNF48	16	30410328	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	27427055	30410328	59944425	38	33937											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:7577120C>A	ENST00000269305.4	-	8	1007	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>A	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.818G>T	17.37:g.7577120C>A	ENSP00000269305:p.Arg273Leu	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554800	0.86231	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.92	4.92	0.64577	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	0.99871	0.9939	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.77557	0.988;0.987;0.99;0.986	D	0.96378	0.9279	10	0.87932	D	0	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	273;273;273;273;273;262;141	ENSP00000352610:R273L;ENSP00000269305:R273L;ENSP00000398846:R273L;ENSP00000391127:R273L;ENSP00000391478:R273L;ENSP00000425104:R141L	ENSP00000269305:R273L	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	3	1	0	8.24728e-16	1	8.94621e-16	28	3					A	7577120	C	A	7577120	3	1	363	1	0	0	0	0	1	0	0	0	16378	536	19	4	468	4	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		7577120	73618090	39	33938											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		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)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	114	0	0	0	1	0	4	114					C	16285560	T	C	16285560	2	2	363	1	0	0	0	0	0	0	0	1	16838	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	8708440	16285560	64909650	40	33939											
KRT15	3866	broad.mit.edu	37	chr17	39673186	39673186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgatgtcagcctcaacGccctggcgcagggccagctc	12	16	2	1	rs577866815	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:39673186G>A	ENST00000254043.3	-	3	4197	c.612C>T	c.(610-612)ggC>ggT	p.G204G	KRT15_ENST00000393974.3_Silent_p.G39G|KRT15_ENST00000393981.3_Silent_p.G39G|KRT15_ENST00000393976.2_Silent_p.G204G	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	204	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCCTCAACGCCCTGGCGCA	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18983	0.0		0.0	False		,,,				2504	0.001					ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(610-612)ggC>ggT		keratin 15							75	76	75					17																	39673186		2203	4300	6503	SO:0001819	synonymous_variant	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673186G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.612C>T	17.37:g.39673186G>A						KRT15_ENST00000393974.3_Silent_p.G39G|KRT15_ENST00000393976.2_Silent_p.G204G|KRT15_ENST00000393981.3_Silent_p.G39G	p.G204G	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4197	-		Breast(137;0.000286)	204			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	ENST00000254043.3	37	c.612C>T	CCDS11398.1																																																																																				0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		20	109	0	0	0	1	0	20	109					A	39673186	G	A	39673186	2	1	363	1	0	0	0	0	0	0	0	1	8452	1074	38	1		1	KRT15	17	39673186	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	23387626	39673186	41522024	41	33940											
TMC8	147138	broad.mit.edu	37	chr17	76134132	76134132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgggcctggctggaaCgggaggagttcctggtcccc	17	11	1	0	rs149327841		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:76134132C>T	ENST00000318430.5	+	12	1770	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TMC8_ENST00000589691.1_Missense_Mutation_p.R243W	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	466					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)			CTGGCTGGAACGGGAGGAGTT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19045	0.0		0.001	False		,,,				2504	0.0					ENST00000318430.5																			0				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						c.(1396-1398)Cgg>Tgg		transmembrane channel-like 8							80	84	83					17																	76134132		2203	4300	6503	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76134132C>T	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.1396C>T	17.37:g.76134132C>T	ENSP00000325561:p.Arg466Trp					TMC8_ENST00000589691.1_Missense_Mutation_p.R243W	p.R466W	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		12	1770	+			466					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.1396C>T	CCDS32749.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.58	3.654970	0.67472	.	.	ENSG00000167895	ENST00000318430	T	0.64803	-0.12	4.43	3.38	0.38709	.	0.251977	0.39146	N	0.001445	T	0.72518	0.3470	L	0.59436	1.845	0.36627	D	0.876065	D	0.89917	1.0	D	0.78314	0.991	T	0.75836	-0.3177	10	0.38643	T	0.18	-29.0134	12.3085	0.54915	0.2411:0.7589:0.0:0.0	.	466	Q8IU68	TMC8_HUMAN	W	466	ENSP00000325561:R466W	ENSP00000325561:R466W	R	+	1	2	TMC8	73645727	0.172000	0.23043	0.993000	0.49108	0.945000	0.59286	0.766000	0.26560	2.176000	0.68965	0.563000	0.77884	CGG		0.647	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			16	117	0	0	0	1	0	16	117					T	76134132	C	T	76134132	3	4	363	1	0	0	0	0	1	0	0	0	15988	527	19	1	1438	1	TMC8	17	76134132	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	36460946	76134132	5061078	42	33941											
MIER2	54531	broad.mit.edu	37	chr19	308922	308922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcccactgaccgtgtgcGcacctgcggggaggggtcag	16	14	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:308922G>A	ENST00000264819.4	-	11	998	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	330	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				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)		GACCGTGTGCGCACCTGCGGG	0.667																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(988-990)Cgc>Tgc		mesoderm induction early response 1, family member 2							62	57	59					19																	308922		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:308922G>A	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.988C>T	19.37:g.308922G>A	ENSP00000264819:p.Arg330Cys						p.R330C	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		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)	11	998	-		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)	330			SANT.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.988C>T	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541265	0.65085	.	.	ENSG00000105556	ENST00000264819	T	0.30182	1.54	4.13	4.13	0.48395	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.288637	0.24846	N	0.035133	T	0.56645	0.1999	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64368	-0.6424	10	0.87932	D	0	-22.6267	15.3972	0.74805	0.0:0.0:1.0:0.0	.	330	Q8N344	MIER2_HUMAN	C	330	ENSP00000264819:R330C	ENSP00000264819:R330C	R	-	1	0	MIER2	259922	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.049000	0.76613	1.830000	0.53286	0.457000	0.33378	CGC		0.667	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		4	98	0	0	0	1	0	4	98					A	308922	G	A	308922	3	1	363	1	0	0	0	0	1	0	0	0	9581	1087	38	1	665	1	MIER2	19	308922	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		308922	58820061	43	33942											
RNF126	55658	broad.mit.edu	37	chr19	651708	651708	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaccggtgccgggacggatGgtctctctcccgccggctct	14	15	3	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:651708G>C	ENST00000292363.5	-	4	501	c.346C>G	c.(346-348)Cat>Gat	p.H116D		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)		CGGGACGGATGGTCTCTCTCC	0.721																																						ENST00000292363.5																			0				lung(1)	1						c.(346-348)Cat>Gat		ring finger protein 126							23	21	22					19																	651708		2197	4296	6493	SO:0001583	missense	55658						protein binding|zinc ion binding	g.chr19:651708G>C	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.346C>G	19.37:g.651708G>C	ENSP00000292363:p.His116Asp						p.H116D	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		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)	4	501	-		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)	116						Missense_Mutation	SNP	ENST00000292363.5	37	c.346C>G	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510326	0.27036	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.14391	2.51	4.42	4.42	0.53409	.	0.326241	0.29956	N	0.010766	T	0.15219	0.0367	M	0.64997	1.995	0.40033	D	0.97555	B	0.23249	0.082	B	0.18871	0.023	T	0.06023	-1.0850	10	0.14252	T	0.57	.	14.5408	0.67995	0.0:0.0:1.0:0.0	.	116	Q9BV68-2	.	D	116	ENSP00000292363:H116D	ENSP00000292363:H116D	H	-	1	0	RNF126	602708	1.000000	0.71417	0.151000	0.22473	0.191000	0.23601	5.540000	0.67205	2.158000	0.67659	0.462000	0.41574	CAT		0.721	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		14	22	0	0	0	1	0	14	22					C	651708	G	C	651708	3	2	363	1	0	0	0	0	1	0	0	0	13435	1348	47	4	613	4	RNF126	19	651708	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	342786	651708	58477275	44	33943											
ZNF430	80264	broad.mit.edu	37	chr19	21216300	21216300	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggccatagaattttcTctggaggagtggcaatgcct	13	7	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:21216300T>C	ENST00000261560.5	+	3	316	c.135T>C	c.(133-135)tcT>tcC	p.S45S	ZNF430_ENST00000595401.1_Silent_p.S45S|ZNF430_ENST00000599548.1_Silent_p.S45S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			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						TAGAATTTTCTCTGGAGGAGT	0.438																																						ENST00000261560.5																			0				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						c.(133-135)tcT>tcC		zinc finger protein 430							113	118	116					19																	21216300		2203	4300	6503	SO:0001819	synonymous_variant	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21216300T>C	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.135T>C	19.37:g.21216300T>C						ZNF430_ENST00000599548.1_Silent_p.S45S|ZNF430_ENST00000595401.1_Silent_p.S45S	p.S45S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			3	316	+			45			KRAB.		Q86V70	Silent	SNP	ENST00000261560.5	37	c.135T>C	CCDS32978.1																																																																																				0.438	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		21	105	0	0	0	1	0	21	105					C	21216300	T	C	21216300	2	2	363	1	0	0	0	0	0	0	0	1	17901	1538	54	3		3	ZNF430	19	21216300	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	20564592	21216300	37912683	45	33944											
PLCB4	5332	broad.mit.edu	37	chr20	9389339	9389339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggtcttggctacttgAagacacatgcaattgaattt	9	8	1	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:9389339A>G	ENST00000378493.1	+	19	1828	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	PLCB4_ENST00000378501.2_Missense_Mutation_p.K605E|PLCB4_ENST00000414679.2_Missense_Mutation_p.K617E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.K605E|PLCB4_ENST00000378473.3_Missense_Mutation_p.K617E|PLCB4_ENST00000334005.3_Missense_Mutation_p.K605E			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	605	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCTACTTGAAGACACATGC	0.373																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1813-1815)Aag>Gag		phospholipase C, beta 4							93	87	89					20																	9389339		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389339A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1813A>G	20.37:g.9389339A>G	ENSP00000367754:p.Lys605Glu					PLCB4_ENST00000378473.3_Missense_Mutation_p.K617E|PLCB4_ENST00000378493.1_Missense_Mutation_p.K605E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.K605E|PLCB4_ENST00000278655.4_Missense_Mutation_p.K605E|PLCB4_ENST00000414679.2_Missense_Mutation_p.K617E	p.K605E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			19	1828	+			605			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1813A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	32	5.123420	0.94429	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.87	5.87	0.94306	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.045133	0.85682	D	0.000000	T	0.79470	0.4451	L	0.60904	1.88	0.80722	D	1	D;B;P;D	0.71674	0.998;0.057;0.869;0.989	D;B;P;P	0.74674	0.984;0.051;0.724;0.878	T	0.81138	-0.1069	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	617;452;605;605	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	E	605;617;605;605;605;453	ENSP00000334105:K605E;ENSP00000367734:K617E;ENSP00000278655:K605E;ENSP00000367754:K605E;ENSP00000367762:K605E;ENSP00000390616:K453E	ENSP00000278655:K605E	K	+	1	0	PLCB4	9337339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	AAG		0.373	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			6	11	0	0	0	1	0	6	11					G	9389339	A	G	9389339	3	3	363	1	0	0	0	0	1	0	0	0	12030	247	9	3	1927	3	PLCB4	20	9389339	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		9389339	53636181	46	33945											
PAX1	5075	broad.mit.edu	37	chr20	21689966	21689967	+	Frame_Shift_Ins	INS	-	-	G													ggcggcggctacctcgccccINSgggcccgccgtggccgcctg							TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:21689966_21689967insG	ENST00000398485.2	+	4	1220_1221	c.1166_1167insG	c.(1165-1170)ccgggcfs	p.PG389fs	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Frame_Shift_Ins_p.PG365fs	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	389					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						TACCTCGCCCCGGGCCCGCCGT	0.748																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1165-1167)cggfs		paired box 1																																				SO:0001589	frameshift_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689966_21689967insG		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.1169dupG	20.37:g.21689969_21689969dupG	ENSP00000381499:p.Pro389fs					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Frame_Shift_Ins_p.R365fs	p.R389fs	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1220_1221	+			389					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Frame_Shift_Ins	INS	ENST00000398485.2	37	c.1166_1167insG	CCDS13146.2																																																																																				0.748	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			12	80						12	80	---	---	---	---	G	21689967	-	G	21689966	7	5	363	1	0	1	1	0	0	0	0	0	11478	652	23	0	1180	0	PAX1	20	21689966	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	12300627	21689966	41335554	47	33946											
IFT52	51098	broad.mit.edu	37	chr20	42264576	42264576	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgaacacagggctcacgagCagctaaatgtgaaacatgaa	10	8	1	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:42264576C>G	ENST00000373030.3	+	11	1064	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	IFT52_ENST00000373039.4_Missense_Mutation_p.Q312E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	312					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTCACGAGCAGCTAAATGT	0.488																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(934-936)Cag>Gag		intraflagellar transport 52 homolog (Chlamydomonas)							104	93	97					20																	42264576		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42264576C>G	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.934C>G	20.37:g.42264576C>G	ENSP00000362121:p.Gln312Glu					IFT52_ENST00000373039.4_Missense_Mutation_p.Q312E	p.Q312E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1064	+		Myeloproliferative disorder(115;0.00452)	312					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.934C>G	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321523	0.23994	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.63	4.67	0.58626	.	0.203724	0.50627	N	0.000109	T	0.41026	0.1141	N	0.17723	0.515	0.54753	D	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.24404	-1.0161	9	0.11182	T	0.66	-12.6939	15.4598	0.75346	0.0:0.8554:0.1446:0.0	.	312	Q9Y366	IFT52_HUMAN	E	312	.	ENSP00000362121:Q312E	Q	+	1	0	IFT52	41697990	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.908000	0.56355	1.486000	0.48398	0.655000	0.94253	CAG		0.488	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		9	53	0	0	0	1	0	9	53					G	42264576	C	G	42264576	3	3	363	1	0	0	0	0	1	0	0	0	7561	711	25	4	972	4	IFT52	20	42264576	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	20574610	42264576	20760944	48	33947											
SLC12A5	57468	broad.mit.edu	37	chr20	44672351	44672351	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actggcaccatcctggccatCgccaccacctctgctgtctg	8	18	2	0	rs10460627		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:44672351C>T	ENST00000454036.2	+	10	1435	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	SLC12A5_ENST00000243964.3_Silent_p.I439I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	462					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)	p.I439I(1)		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)	TCCTGGCCATCGCCACCACCT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.001		0.0	False		,,,				2504	0.0					ENST00000454036.1																			1	Substitution - coding silent(1)	p.I439I(1)	endometrium(1)	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						c.(1384-1386)atC>atT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						94	86	89					20																	44672351		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44672351C>T	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.1386C>T	20.37:g.44672351C>T						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.I439I	p.I462I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			10	1462	+		Myeloproliferative disorder(115;0.0122)	462					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1386C>T	CCDS46610.1																																																																																				0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			4	106	0	0	0	1	0	4	106					T	44672351	C	T	44672351	2	4	363	1	0	0	0	0	0	0	0	1	14386	874	31	1		1	SLC12A5	20	44672351	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	2407775	44672351	18353169	49	33948											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021254	46021254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaagcccgtctgctgtGtgcccacctgctctgatgat	11	14	2	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:46021254G>T	ENST00000380102.2	+	1	758	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	245	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGTCTGCTGTGTGCCCACCTG	0.652																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(733-735)Gtg>Ttg		keratin associated protein 10-7							152	149	150					21																	46021254		2203	4300	6503	SO:0001583	missense	386675					keratin filament		g.chr21:46021254G>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.733G>T	21.37:g.46021254G>T	ENSP00000369445:p.Val245Leu					TSPEAR_ENST00000323084.4_Intron	p.V245L	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	758	+			245			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.733G>T		.	.	.	.	.	.	.	.	.	.	g	3.359	-0.130825	0.06753	.	.	ENSG00000205441	ENST00000380102	T	0.01414	4.92	3.48	-5.36	0.02689	.	.	.	.	.	T	0.02119	0.0066	M	0.82630	2.6	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.39820	-0.9595	9	0.28530	T	0.3	.	5.3661	0.16115	0.5869:0.1549:0.2582:0.0	.	240	P60409-2	.	L	245	ENSP00000369445:V245L	ENSP00000369445:V245L	V	+	1	0	KRTAP10-7	44845682	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.219000	0.02973	-0.701000	0.05063	0.398000	0.26397	GTG		0.652	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		43	211	1	0	4.06502e-11	1	4.33602e-11	43	211					T	46021254	G	T	46021254	3	4	363	1	0	0	0	0	1	0	0	0	8514	1377	48	4	724	4	KRTAP10-7	21	46021254	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		46021254	2108641	50	33949											
LARGE	9215	broad.mit.edu	37	chr22	33670458	33670458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttcagggcagcaaagccGtagcggcgggacatgtcctg	14	10	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:33670458G>A	ENST00000354992.2	-	16	2797	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	LARGE_ENST00000437602.2_Silent_p.Y693Y|LARGE_ENST00000337431.2_Silent_p.Y690Y|LARGE_ENST00000402320.1_Silent_p.Y690Y|LARGE_ENST00000397394.2_Silent_p.Y742Y|LARGE_ENST00000452586.2_Silent_p.Y541Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	742					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGCAAAGCCGTAGCGGCGGG	0.542											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2224-2226)taC>taT		like-glycosyltransferase							137	123	128					22																	33670458		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33670458G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2226C>T	22.37:g.33670458G>A			OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	LARGE_ENST00000452586.2_Silent_p.Y541Y|LARGE_ENST00000397394.2_Silent_p.Y742Y|LARGE_ENST00000402320.1_Silent_p.Y690Y|LARGE_ENST00000337431.2_Silent_p.Y690Y|LARGE_ENST00000437602.2_Silent_p.Y693Y	p.Y742Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			16	2797	-		Lung NSC(1;0.219)	742					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.2226C>T	CCDS13912.1																																																																																				0.542	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		14	109	0	0	0	1	0	14	109					A	33670458	G	A	33670458	2	1	363	1	0	0	0	0	0	0	0	1	8627	1140	40	1		1	LARGE	22	33670458	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		33670458	17634108	51	33950											
PRR5	55615	broad.mit.edu	37	chr22	45132730	45132730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctccaagagctacaacaCgcctctgctgaaccccgtgc	9	17	1	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:45132730C>T	ENST00000336985.6	+	8	1047	c.770C>T	c.(769-771)aCg>aTg	p.T257M	ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.T280M|PRR5_ENST00000006251.7_Missense_Mutation_p.T248M	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	257					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)		AGCTACAACACGCCTCTGCTG	0.692																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(838-840)aCg>aTg		proline rich 5 (renal)							39	47	45					22																	45132730		2201	4296	6497	SO:0001583	missense	55615							g.chr22:45132730C>T	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.770C>T	22.37:g.45132730C>T	ENSP00000337464:p.Thr257Met					ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000336985.6_Missense_Mutation_p.T257M	p.T280M	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	10	1448	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.839C>T	CCDS14058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.02|17.02	3.281172|3.281172	0.59758|0.59758	.|.	.|.	ENSG00000186654|ENSG00000186654	ENST00000455389|ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	.|T;T;T;T	.|0.31247	.|1.51;1.51;1.5;1.51	5.41|5.41	3.23|3.23	0.37069|0.37069	.|.	.|.	.|.	.|.	.|.	T|T	0.18299|0.18299	0.0439|0.0439	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;P;B;P;P	.|0.48350	.|0.297;0.909;0.421;0.798;0.798	.|B;B;B;B;B	.|0.35312	.|0.015;0.2;0.034;0.132;0.132	T|T	0.03175|0.03175	-1.1064|-1.1064	5|9	.|0.51188	.|T	.|0.08	.|.	6.3086|6.3086	0.21153|0.21153	0.3813:0.5212:0.0:0.0975|0.3813:0.5212:0.0:0.0975	.|.	.|221;280;156;257;257	.|B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.|.;.;.;PRR5_HUMAN;.	C|M	217|248;248;221;280;257	.|ENSP00000400925:T248M;ENSP00000006251:T248M;ENSP00000384848:T280M;ENSP00000337464:T257M	.|ENSP00000006251:T248M	R|T	+|+	1|2	0|0	PRR5|PRR5	43511394|43511394	0.879000|0.879000	0.30193|0.30193	0.998000|0.998000	0.56505|0.56505	0.893000|0.893000	0.52053|0.52053	2.164000|2.164000	0.42387|0.42387	1.290000|1.290000	0.44636|0.44636	0.313000|0.313000	0.20887|0.20887	CGC|ACG		0.692	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		28	112	0	0	0	1	0	28	112					T	45132730	C	T	45132730	3	4	363	1	0	0	0	0	1	0	0	0	12600	536	19	1	800	1	PRR5	22	45132730	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11462272	45132730	6171836	52	33951											
DHRSX	207063	broad.mit.edu	37	chrX	2161263	2161263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggctgcgtggggtgagTagcaggcactgtggggcaag	20	7	0	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:2161263T>C	ENST00000334651.5	-	6	657	c.605A>G	c.(604-606)tAc>tGc	p.Y202C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	202							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)				GTGGGGTGAGTAGCAGGCACT	0.642																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(604-606)tAc>tGc		dehydrogenase/reductase (SDR family) X-linked							118	100	106					X																	2161263		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2161263T>C	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.605A>G	X.37:g.2161263T>C	ENSP00000334113:p.Tyr202Cys						p.Y202C	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			6	657	-		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)	202					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.605A>G	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405952	0.42715	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	D;D	0.95918	-3.85;-3.85	1.45	1.45	0.22620	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.163700	0.41823	U	0.000811	D	0.97337	0.9129	M	0.89214	3.015	0.29501	N	0.854926	D	0.89917	1.0	D	0.91635	0.999	D	0.93514	0.6855	10	0.87932	D	0	.	8.589	0.33674	0.0:0.0:0.0:1.0	.	202	Q8N5I4	DHRSX_HUMAN	C	202;179	ENSP00000334113:Y202C;ENSP00000391778:Y179C	ENSP00000334113:Y202C	Y	-	2	0	DHRSX	2171263	1.000000	0.71417	0.477000	0.27303	0.314000	0.28054	6.025000	0.70864	0.357000	0.24183	0.046000	0.15203	TAC		0.642	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		8	28	0	0	0	1	0	8	28					C	2161263	T	C	2161263	3	2	363	1	0	0	0	0	1	0	0	0	4499	1638	57	3	395	3	DHRSX	23	2161263	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08		2161263	153109297	53	33952											
CYLC1	1538	broad.mit.edu	37	chrX	83116196	83116196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggcaggggaaatgtcTcttccaaggttgtaagtcct	12	8	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:83116196T>C	ENST00000329312.4	+	1	43	c.6T>C	c.(4-6)tcT>tcC	p.S2S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	2					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						GGGAAATGTCTCTTCCAAGGT	0.313																																						ENST00000329312.4																			0				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						c.(4-6)tcT>tcC		cylicin, basic protein of sperm head cytoskeleton 1							98	88	92					X																	83116196		2202	4300	6502	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83116196T>C	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.6T>C	X.37:g.83116196T>C							p.S2S	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			1	43	+			2					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.6T>C	CCDS35341.1																																																																																				0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		10	35	0	0	0	1	0	10	35					C	83116196	T	C	83116196	2	2	363	1	0	0	0	0	0	0	0	1	4141	1538	54	3		3	CYLC1	23	83116196	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	80954933	83116196	72154364	54	33953											
BTK	695	broad.mit.edu	37	chrX	100615678	100615678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatcataaagggccacaacCtttttcagctcacttgtgga	7	10	3	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:100615678C>T	ENST00000308731.7	-	8	817	c.654G>A	c.(652-654)aaG>aaA	p.K218K	BTK_ENST00000372880.1_Silent_p.K218K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	218	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						GGGCCACAACCTTTTTCAGCT	0.448									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				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	GRCh37	CX012301	BTK	X		c.(652-654)aaG>aaA		Bruton agammaglobulinemia tyrosine kinase							149	130	136					X																	100615678		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615678C>T	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.654G>A	X.37:g.100615678C>T						BTK_ENST00000372880.1_Silent_p.K218K	p.K218K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			8	817	-			218			SH3.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.654G>A	CCDS14482.1																																																																																				0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		17	102	0	0	0	1	0	17	102					T	100615678	C	T	100615678	2	4	363	1	0	0	0	0	0	0	0	1	1557	680	24	2		2	BTK	23	100615678	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	17499482	100615678	54654882	55	33954											
MUM1L1	139221	broad.mit.edu	37	chrX	105449981	105449981	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgaagtggaaacaaagTcattacaaaactctagctgg	9	7	2	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:105449981T>C	ENST00000357175.2	+	4	1205	c.556T>C	c.(556-558)Tca>Cca	p.S186P	MUM1L1_ENST00000337685.2_Missense_Mutation_p.S186P|MUM1L1_ENST00000372552.1_Missense_Mutation_p.S186P	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	186						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						GGAAACAAAGTCATTACAAAA	0.383																																						ENST00000337685.2																			0				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						c.(556-558)Tca>Cca		melanoma associated antigen (mutated) 1-like 1							66	56	59					X																	105449981		1885	4098	5983	SO:0001583	missense	139221							g.chrX:105449981T>C	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.556T>C	X.37:g.105449981T>C	ENSP00000349699:p.Ser186Pro					MUM1L1_ENST00000372552.1_Missense_Mutation_p.S186P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S186P	p.S186P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	1341	+			186					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.556T>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.596014	0.28445	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.25912	1.77;1.77;1.77	4.96	-7.45	0.01374	.	1.275960	0.05669	N	0.588312	T	0.20820	0.0501	L	0.52126	1.63	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26950	-1.0088	10	0.38643	T	0.18	-28.553	9.872	0.41180	0.0:0.5749:0.2512:0.1739	.	186	Q5H9M0	MUML1_HUMAN	P	186	ENSP00000349699:S186P;ENSP00000338641:S186P;ENSP00000361632:S186P	ENSP00000338641:S186P	S	+	1	0	MUM1L1	105336637	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.694000	0.05115	-1.624000	0.01556	-0.323000	0.08544	TCA		0.383	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		11	13	0	0	0	1	0	11	13					C	105449981	T	C	105449981	3	2	363	1	0	0	0	0	1	0	0	0	9986	1667	58	3	558	3	MUM1L1	23	105449981	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	4834303	105449981	49820579	56	33955											
CATSPER4	378807	broad.mit.edu	37	chr1	26524778	26524778	+	Splice_Site	DEL	T	T	-													gctcttttctctctgacaggTtttttccgtgtttggagtaa							TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.680delT	c.(679-681)gtt>gt	p.V227fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.e6-1		cation channel, sperm associated 4							297	312	307					1																	26524778		2203	4300	6503	SO:0001630	splice_region_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524778delT	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.679-1T>-	1.37:g.26524778delT							p.V227_splice	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	747	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	227					A1A4W6|Q5VY71	Splice_Site	DEL	ENST00000456354.2	37	c.678_splice	CCDS30645.1																																																																																				0.488	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	Frame_Shift_Del	7	921						7	921	---	---	---	---	-	26524778	T	-	26524778	8	5	364	1	0	1	0	1	0	0	1	0	2690	1739	60	0	702	0	CATSPER4	1	26524778	Splice_Site	DEL	T	TCGA-P5-A5F6-01A-11D-A289-08		26524778	222725843	1	33956											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G													ctggagccttcgggcatggcINSgggctttggggggcattcgc							TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					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						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		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.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		8	96						8	96	---	---	---	---	G	74757186	-	G	74757185	7	5	364	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F6-01A-11D-A289-08		74757185	168442188	2	33957											
GNAI2	2771	broad.mit.edu	37	chr3	50290578	50290578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcaggcctgctttggCcgctcaagggaataccagct	14	11	1	0			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr3:50290578C>T	ENST00000313601.6	+	4	810	c.426C>T	c.(424-426)ggC>ggT	p.G142G	GNAI2_ENST00000440628.1_Silent_p.G90G|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Silent_p.G61G|GNAI2_ENST00000422163.1_Silent_p.G126G|GNAI2_ENST00000451956.1_Silent_p.G105G|GNAI2_ENST00000266027.5_Silent_p.G126G	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	142					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CCTGCTTTGGCCGCTCAAGGG	0.652																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(424-426)ggC>ggT		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							168	156	160					3																	50290578		2203	4300	6503	SO:0001819	synonymous_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50290578C>T	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.426C>T	3.37:g.50290578C>T						GNAI2_ENST00000422163.1_Silent_p.G126G|GNAI2_ENST00000266027.5_Silent_p.G126G|GNAI2_ENST00000536647.1_Silent_p.G61G|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.G105G|GNAI2_ENST00000440628.1_Silent_p.G90G	p.G142G	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	810	+			142					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	c.426C>T	CCDS2813.1																																																																																				0.652	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		5	261	0	0	0	1	0	5	261					T	50290578	C	T	50290578	2	4	364	1	0	0	0	0	0	0	0	1	6505	726	26	2		2	GNAI2	3	50290578	Silent	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		50290578	147731852	3	33958											
KRIT1	889	broad.mit.edu	37	chr7	91865759	91865759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaacatccttgctgtaagTgtagcaaaatgagtactgga	9	6	0	1			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr7:91865759T>C	ENST00000340022.2	-	7	1471	c.453A>G	c.(451-453)acA>acG	p.T151T	KRIT1_ENST00000394505.2_Silent_p.T151T|KRIT1_ENST00000394503.2_Silent_p.T151T|KRIT1_ENST00000412043.2_Silent_p.T151T|KRIT1_ENST00000394507.1_Silent_p.T151T	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	151	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCTGTAAGTGTAGCAAAAT	0.323																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(451-453)acA>acG		KRIT1, ankyrin repeat containing							94	97	96					7																	91865759		2202	4299	6501	SO:0001819	synonymous_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91865759T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.453A>G	7.37:g.91865759T>C						KRIT1_ENST00000394505.2_Silent_p.T151T|KRIT1_ENST00000394503.2_Silent_p.T151T|KRIT1_ENST00000412043.2_Silent_p.T151T|KRIT1_ENST00000340022.2_Silent_p.T151T	p.T151T	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1236	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		151					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.453A>G	CCDS5624.1																																																																																				0.323	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			6	23	0	0	0	1	0	6	23					C	91865759	T	C	91865759	2	2	364	1	0	0	0	0	0	0	0	1	8445	1683	59	3		3	KRIT1	7	91865759	Silent	SNP	T	TCGA-P5-A5F6-01A-11D-A289-08		91865759	67272904	4	33959											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				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)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	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.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		4	8	0	0	0	1	0	4	8					G	41790659	T	G	41790659	2	3	364	1	0	0	0	0	0	0	0	1	10104	1683	59	5		5	MYST3	8	41790659	Silent	SNP	T	TCGA-P5-A5F6-01A-11D-A289-08		41790659	104573363	5	33960											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629398	1629398	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggagccacagccccccttgCagcccccacaagagccacag	9	19	0	1	rs7125831		TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr11:1629398C>G	ENST00000399685.1	-	1	295	c.218G>C	c.(217-219)tGc>tCc	p.C73S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	73	11 X 4 AA repeats of C-C-X-P.		C -> S (in dbSNP:rs7125831).			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)		GCCCCCCTTGCAGCCCCCACA	0.677																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(217-219)tGc>tCc		keratin associated protein 5-3							46	64	58					11																	1629398		2188	4290	6478	SO:0001583	missense	387266					keratin filament		g.chr11:1629398C>G	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.218G>C	11.37:g.1629398C>G	ENSP00000382592:p.Cys73Ser						p.C73S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	295	-		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)	73		C -> S (in dbSNP:rs7125831).	11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.218G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	2.350	-0.349067	0.05208	.	.	ENSG00000196224	ENST00000399685	T	0.01005	5.45	3.64	-7.27	0.01461	.	.	.	.	.	T	0.00784	0.0026	N	0.12182	0.205	0.21802	N	0.999534	B	0.09022	0.002	B	0.10450	0.005	T	0.47459	-0.9116	9	0.15499	T	0.54	.	21.2393	0.99949	0.0:0.1676:0.8324:0.0	rs7125831	73	Q6L8H2	KRA53_HUMAN	S	73	ENSP00000382592:C73S	ENSP00000382592:C73S	C	-	2	0	KRTAP5-3	1585974	0.000000	0.05858	0.388000	0.26195	0.010000	0.07245	-1.799000	0.01746	-1.023000	0.03342	-2.505000	0.00190	TGC		0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	197	0	0	0	1	0	7	197					G	1629398	C	G	1629398	3	3	364	1	0	0	0	0	1	0	0	0	8562	710	25	4	502	4	KRTAP5-3	11	1629398	Missense_Mutation	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		1629398	133377118	6	33961											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452486	102452486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcacgttcgtgacttgCcccctgtgtcagggtctatc	11	12	3	2			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr14:102452486C>T	ENST00000360184.4	+	8	2088	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	642	Interaction with DYNC1I2. {ECO:0000250}.|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						TCGTGACTTGCCCCCTGTGTC	0.532																																						ENST00000360184.4																			0				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						c.(1924-1926)Ccc>Tcc		dynein, cytoplasmic 1, heavy chain 1							71	61	64					14																	102452486		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452486C>T	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.1924C>T	14.37:g.102452486C>T	ENSP00000348965:p.Pro642Ser						p.P642S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			8	2088	+			642			Interaction with DYNC1I2 (By similarity).|Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.1924C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304710	0.81247	.	.	ENSG00000197102	ENST00000360184	T	0.70631	-0.5	5.85	5.85	0.93711	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90705	0.4623	10	0.66056	D	0.02	.	20.155	0.98106	0.0:1.0:0.0:0.0	.	642	Q14204	DYHC1_HUMAN	S	642	ENSP00000348965:P642S	ENSP00000348965:P642S	P	+	1	0	DYNC1H1	101522239	1.000000	0.71417	0.986000	0.45419	0.696000	0.40369	7.484000	0.81180	2.760000	0.94817	0.655000	0.94253	CCC		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	106	0	0	0	1	0	4	106					T	102452486	C	T	102452486	3	4	364	1	0	0	0	0	1	0	0	0	4841	739	26	2	1954	2	DYNC1H1	14	102452486	Missense_Mutation	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		102452486	4897054	7	33962											
ACSS1	84532	broad.mit.edu	37	chr20	24988567	24988567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacctggtttttggaagaCgtttcaccacctggcaagga	11	10	1	2	rs150793632		TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr20:24988567C>T	ENST00000323482.4	-	14	1980	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	ACSS1_ENST00000542618.1_Missense_Mutation_p.R513H|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000537502.1_Missense_Mutation_p.R551H	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	634					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)	TTTTGGAAGACGTTTCACCAC	0.567																																						ENST00000537502.1																			0				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						c.(1651-1653)cGt>cAt		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	C	HIS/ARG	0,4406		0,0,2203	79	64	69		1901	5.8	1	20	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS1	NM_032501.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	634/690	24988567	1,13005	2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24988567C>T		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.1901G>A	20.37:g.24988567C>T	ENSP00000316924:p.Arg634His					ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000323482.4_Missense_Mutation_p.R634H|ACSS1_ENST00000542618.1_Missense_Mutation_p.R513H	p.R551H			Q9NUB1	ACS2L_HUMAN			12	3183	-			634					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1652G>A	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349101	0.82132	0.0	1.16E-4	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.50001	0.76;0.76;0.76	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	L	0.38953	1.18	0.80722	D	1	D;B;P;P	0.89917	1.0;0.424;0.479;0.479	D;B;B;B	0.91635	0.999;0.134;0.212;0.15	T	0.63274	-0.6674	10	0.87932	D	0	-12.2562	18.5901	0.91208	0.0:1.0:0.0:0.0	.	429;632;634;551	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	H	634;429;551;513	ENSP00000316924:R634H;ENSP00000439304:R551H;ENSP00000437657:R513H	ENSP00000316924:R634H	R	-	2	0	ACSS1	24936567	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.951000	0.75983	2.731000	0.93534	0.655000	0.94253	CGT		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		6	63	0	0	0	1	0	6	63					T	24988567	C	T	24988567	3	4	364	1	0	0	0	0	1	0	0	0	188	536	19	1	172	1	ACSS1	20	24988567	Missense_Mutation	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		24988567	38036953	8	33963											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					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)	p.Q394Q(1)		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						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	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						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	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.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	47	0	0	0	1	0	4	47					T	112058796	C	T	112058796	2	4	364	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		112058796	43211764	9	33964											
PLXNA3	55558	broad.mit.edu	37	chrX	153688925	153688925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcaagctgggtgagccGcaccaccgcaaggagcacta	11	14	2	1	rs369549579		TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chrX:153688925G>A	ENST00000369682.3	+	2	577	c.402G>A	c.(400-402)ccG>ccA	p.P134P		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	134	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)					TGGGTGAGCCGCACCACCGCA	0.657																																						ENST00000369682.3																			0				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						c.(400-402)ccG>ccA		plexin A3		G		1,3834		0,1,1631,571	48	50	49		402	-9.7	0	X		49	1,6726		0,1,2427,1871	no	coding-synonymous	PLXNA3	NM_017514.3		0,2,4058,2442	AA,AG,GG,G		0.0149,0.0261,0.0189		134/1872	153688925	2,10560	2203	4299	6502	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688925G>A	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.402G>A	X.37:g.153688925G>A							p.P134P	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	577	+	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)		134			Sema.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.402G>A	CCDS14752.1																																																																																				0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		4	113	0	0	0	1	0	4	113					A	153688925	G	A	153688925	2	1	364	1	0	0	0	0	0	0	0	1	12121	1074	38	1		1	PLXNA3	23	153688925	Silent	SNP	G	TCGA-P5-A5F6-01A-11D-A289-08	41630129	153688925	1581635	10	33965											
GABRD	2563	broad.mit.edu	37	chr1	1959653	1959653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccaggagcacatccacGggctggacaagctgcagctg	14	12	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:1959653G>A	ENST00000378585.4	+	6	696	c.613G>A	c.(613-615)Ggg>Agg	p.G205R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	205					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)	GCACATCCACGGGCTGGACAA	0.607																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(613-615)Ggg>Agg		gamma-aminobutyric acid (GABA) A receptor, delta							90	67	75					1																	1959653		2202	4300	6502	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1959653G>A	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.613G>A	1.37:g.1959653G>A	ENSP00000367848:p.Gly205Arg						p.G205R	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		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)	6	696	+	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)	205					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.613G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269036	0.59540	.	.	ENSG00000187730	ENST00000378585	T	0.78481	-1.18	3.58	3.58	0.41010	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84947	0.0869	10	0.51188	T	0.08	-15.1015	14.7342	0.69404	0.0:0.0:1.0:0.0	.	205	O14764	GBRD_HUMAN	R	205	ENSP00000367848:G205R	ENSP00000367848:G205R	G	+	1	0	GABRD	1949513	1.000000	0.71417	0.981000	0.43875	0.787000	0.44495	9.275000	0.95738	2.031000	0.59945	0.561000	0.74099	GGG		0.607	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		9	19	0	0	0	1	0	9	19					A	1959653	G	A	1959653	3	1	365	1	0	0	0	0	1	0	0	0	6169	1116	39	1	635	1	GABRD	1	1959653	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		1959653	247290968	1	33966											
KLHDC8A	55220	broad.mit.edu	37	chr1	205308370	205308370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggaacttgggctgccGgtagaggcgaccttgccgca	15	13	0	1	rs140745821		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:205308370G>A	ENST00000367156.3	-	7	1525	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	237										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGGGCTGCCGGTAGAGGCGA	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(709-711)Cgg>Tgg		kelch domain containing 8A		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	55	48	50		709	5.3	1	1	dbSNP_134	50	0,8600		0,0,4300	yes	missense	KLHDC8A	NM_018203.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	237/351	205308370	1,13005	2203	4300	6503	SO:0001583	missense	55220							g.chr1:205308370G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.709C>T	1.37:g.205308370G>A	ENSP00000356124:p.Arg237Trp					KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W	p.R237W	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1525	-	Breast(84;0.23)		237					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.709C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060989	0.93846	2.27E-4	0.0	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.28	5.28	0.74379	Kelch-type beta propeller (1);	0.061301	0.64402	D	0.000002	T	0.81484	0.4832	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.897	D	0.83522	0.0086	10	0.87932	D	0	-17.5022	18.5084	0.90907	0.0:0.0:1.0:0.0	.	124;237	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	W	237;237;237;124	ENSP00000356123:R237W;ENSP00000356124:R237W;ENSP00000442229:R237W;ENSP00000443447:R124W	ENSP00000356123:R237W	R	-	1	2	KLHDC8A	203574993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.464000	0.53057	2.480000	0.83734	0.655000	0.94253	CGG		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		11	27	0	0	0	1	0	11	27					A	205308370	G	A	205308370	3	1	365	1	0	0	0	0	1	0	0	0	8362	1115	39	1	355	1	KLHDC8A	1	205308370	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	203348717	205308370	43942251	2	33967											
PROKR1	10887	broad.mit.edu	37	chr2	68882314	68882314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagctctggttcaaggCggtccctggattccagacag	14	12	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:68882314C>T	ENST00000303786.3	+	3	1208	c.788C>T	c.(787-789)gCg>gTg	p.A263V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	263					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						TGGTTCAAGGCGGTCCCTGGA	0.582																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(787-789)gCg>gTg		prokineticin receptor 1							60	59	59					2																	68882314		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882314C>T	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.788C>T	2.37:g.68882314C>T	ENSP00000303775:p.Ala263Val					PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V	p.A263V			Q8TCW9	PKR1_HUMAN			3	1208	+			263					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.788C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	7.632	0.679132	0.14907	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38560	1.13;1.13	4.55	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.404433	0.31221	N	0.008038	T	0.21509	0.0518	N	0.12182	0.205	0.09310	N	1	B	0.21753	0.06	B	0.26202	0.067	T	0.17501	-1.0367	10	0.25106	T	0.35	.	6.9574	0.24578	0.3071:0.6081:0.0:0.0848	.	263	Q8TCW9	PKR1_HUMAN	V	263	ENSP00000303775:A263V;ENSP00000377874:A263V	ENSP00000303775:A263V	A	+	2	0	PROKR1	68735818	0.031000	0.19500	0.221000	0.23827	0.612000	0.37316	0.328000	0.19681	0.387000	0.25024	-0.251000	0.11542	GCG		0.582	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			10	38	0	0	0	1	0	10	38					T	68882314	C	T	68882314	3	4	365	1	0	0	0	0	1	0	0	0	12552	768	27	1	794	1	PROKR1	2	68882314	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		68882314	174317059	3	33968											
RANBP2	5903	broad.mit.edu	37	chr2	109384118	109384118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgtatagtgatgagaaggGaccaagtattaaaactttgt	10	4	0	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:109384118G>A	ENST00000283195.6	+	20	7249	c.7123G>A	c.(7123-7125)Gac>Aac	p.D2375N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2375	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						GATGAGAAGGGACCAAGTATT	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(7123-7125)Gac>Aac		RAN binding protein 2							63	74	70					2																	109384118		2077	3990	6067	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384118G>A	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.7123G>A	2.37:g.109384118G>A	ENSP00000283195:p.Asp2375Asn						p.D2375N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7249	+			2375			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7123G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052998	0.75960	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.51574	0.7	5.47	5.47	0.80525	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.72526	0.3471	M	0.81341	2.54	0.46927	D	0.999256	D	0.76494	0.999	D	0.87578	0.998	T	0.75496	-0.3297	9	0.87932	D	0	-25.6483	19.698	0.96034	0.0:0.0:1.0:0.0	.	2375	P49792	RBP2_HUMAN	N	1399;2375	ENSP00000283195:D2375N	ENSP00000283195:D2375N	D	+	1	0	RANBP2	108750550	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.813000	0.99286	2.736000	0.93811	0.305000	0.20034	GAC		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		55	211	0	0	0	1	0	55	211					A	109384118	G	A	109384118	3	1	365	1	0	0	0	0	1	0	0	0	13028	1174	41	2	7201	2	RANBP2	2	109384118	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	40501804	109384118	133815255	4	33969											
LRP2	4036	broad.mit.edu	37	chr2	170038125	170038125	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtctgcccagtagagGtacctgtcagggcaaacaca	10	14	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:170038125G>T	ENST00000263816.3	-	52	10287	c.10002C>A	c.(10000-10002)taC>taA	p.Y3334*	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3334					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)"	CCCAGTAGAGGTACCTGTCAG	0.483																																						ENST00000263816.3																			0				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						c.(10000-10002)taC>taA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						96	83	87					2																	170038125		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038125G>T		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.10002C>A	2.37:g.170038125G>T	ENSP00000263816:p.Tyr3334*					LRP2_ENST00000461418.1_5'UTR	p.Y3334*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	52	10287	-			3334					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.10002C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	51	17.554366	0.99889	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	.	.	.	5.66	0.663	0.17885	.	0.998870	0.08105	N	0.997127	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3677	0.04323	0.4935:0.1683:0.2403:0.0979	.	.	.	.	X	3334;29	.	ENSP00000263816:Y3334X	Y	-	3	2	LRP2	169746371	0.637000	0.27216	0.417000	0.26559	0.046000	0.14306	0.318000	0.19504	0.093000	0.17368	-0.768000	0.03414	TAC		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	33	1	0	2.74318e-10	1	2.9168e-10	10	33					T	170038125	G	T	170038125	4	4	365	1	0	0	0	0	0	1	0	0	8956	1256	44	4	4077	4	LRP2	2	170038125	Nonsense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	60654007	170038125	73161248	5	33970											
ATF2	1386	broad.mit.edu	37	chr2	175979598	175979598	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgccaatggtacttccTatttaacaatgagataaaaa	6	6	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:175979598T>A	ENST00000264110.2	-	8	746		c.e8-2		ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000392544.1_Splice_Site	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						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)	TGGTACTTCCTATTTAACAAT	0.373																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.e8-2		activating transcription factor 2							151	146	148					2																	175979598		2203	4300	6503	SO:0001630	splice_region_variant	1386				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175979598T>A	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.448-2A>T	2.37:g.175979598T>A						ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000487334.2_Splice_Site		NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		8	746	-								A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Splice_Site	SNP	ENST00000264110.2	37		CCDS2262.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844180	0.71488	.	.	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409635;ENST00000435004;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833	.	.	.	5.55	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3507	0.49585	0.0:0.0712:0.0:0.9288	.	.	.	.	.	-1	.	.	.	-	.	.	ATF2	175687844	1.000000	0.71417	0.878000	0.34440	0.968000	0.65278	6.271000	0.72569	0.943000	0.37553	0.477000	0.44152	.		0.373	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880	Intron	21	69	0	0	0	1	0	21	69					A	175979598	T	A	175979598	5	1	365	1	0	0	0	0	0	0	1	0	1080	1536	53	5	1099	5	ATF2	2	175979598	Splice_Site	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	5941473	175979598	67219775	6	33971											
SP140	11262	broad.mit.edu	37	chr2	231150512	231150512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccagtgaaaagaaggCgaacgtgaatctgaaagacc	12	8	2	5			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:231150512C>T	ENST00000392045.3	+	17	1724	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	537					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		GAAAAGAAGGCGAACGTGAAT	0.448																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1609-1611)gCg>gTg		SP140 nuclear body protein							161	161	161					2																	231150512		1867	4100	5967	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231150512C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"Zinc fingers, PHD-type"	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1610C>T	2.37:g.231150512C>T	ENSP00000375899:p.Ala537Val					SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V|SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V	p.A537V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	17	1724	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	537					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1610C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381932	0.01204	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.57752	0.54;0.75;0.65;0.38;0.64	1.58	0.336	0.15958	.	.	.	.	.	T	0.32585	0.0834	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.15719	0.009;0.003;0.014;0.0	B;B;B;B	0.10450	0.001;0.001;0.005;0.0	T	0.19257	-1.0311	9	0.20046	T	0.44	-1.5964	3.2177	0.06705	0.0:0.2801:0.0:0.7199	.	510;423;477;537	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	V	461;406;537;423;477;510	ENSP00000440107:A461V;ENSP00000345846:A406V;ENSP00000375899:A537V;ENSP00000342096:A477V;ENSP00000398210:A510V	ENSP00000342096:A477V	A	+	2	0	SP140	230858756	0.000000	0.05858	0.010000	0.14722	0.105000	0.19272	-1.820000	0.01714	0.093000	0.17368	0.306000	0.20318	GCG		0.448	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		17	115	0	0	0	1	0	17	115					T	231150512	C	T	231150512	3	4	365	1	0	0	0	0	1	0	0	0	14962	768	27	1	1793	1	SP140	2	231150512	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	55170914	231150512	12048861	7	33972											
THRB	7068	broad.mit.edu	37	chr3	24193966	24193966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctcgtccttgtctaagTaactggggatgtaccctgtg	12	9	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:24193966T>C	ENST00000356447.4	-	5	583	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	THRB_ENST00000396671.2_Missense_Mutation_p.Y100C|THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	100	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTTGTCTAAGTAACTGGGGAT	0.443																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(298-300)tAc>tGc		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						133	113	120					3																	24193966		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24193966T>C		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.299A>G	3.37:g.24193966T>C	ENSP00000348827:p.Tyr100Cys					THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C|THRB_ENST00000356447.4_Missense_Mutation_p.Y100C	p.Y100C	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			6	647	-			100			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.299A>G	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505970	0.64410	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414	D;D;D;D;D	0.96745	-3.23;-3.23;-3.23;-3.24;-4.11	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000007	D	0.96522	0.8865	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96924	0.9676	10	0.48119	T	0.1	.	15.8802	0.79197	0.0:0.0:0.0:1.0	.	115;100	P10828-2;P10828	.;THB_HUMAN	C	100;100;100;115;69;100;100;100;100;100	ENSP00000379904:Y100C;ENSP00000348827:Y100C;ENSP00000414444:Y100C;ENSP00000280696:Y115C;ENSP00000414100:Y69C	ENSP00000280696:Y115C	Y	-	2	0	THRB	24168970	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.020000	0.88740	2.152000	0.67230	0.459000	0.35465	TAC		0.443	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		9	23	0	0	0	1	0	9	23					C	24193966	T	C	24193966	3	2	365	1	0	0	0	0	1	0	0	0	15872	1638	57	3	1110	3	THRB	3	24193966	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08		24193966	173828464	8	33973											
PLCXD2	257068	broad.mit.edu	37	chr3	111394231	111394231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcacctccacaacctcCccctttccaatctggcaatc	2	22	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:111394231C>T	ENST00000477665.1	+	1	463	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PLCXD2_ENST00000393934.3_Missense_Mutation_p.P47S|PLCXD2-AS1_ENST00000493131.1_RNA	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	47	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCACAACCTCCCCCTTTCCAA	0.537																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.(139-141)Ccc>Tcc		phosphatidylinositol-specific phospholipase C, X domain containing 2							159	148	152					3																	111394231		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111394231C>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.139C>T	3.37:g.111394231C>T	ENSP00000420686:p.Pro47Ser					PLCXD2_ENST00000477665.1_Missense_Mutation_p.P47S	p.P47S	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			1	709	+			47			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.139C>T	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441835	0.63067	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	.	.	.	.	T	0.70055	0.3180	M	0.71581	2.175	0.45962	D	0.998788	P;P	0.39404	0.672;0.621	P;B	0.48114	0.567;0.334	T	0.69209	-0.5205	8	0.41790	T	0.15	-18.5369	14.4712	0.67517	0.0:1.0:0.0:0.0	.	47;47	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	S	47	.	ENSP00000377511:P47S	P	+	1	0	PLCXD2	112876921	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.560000	0.53763	2.783000	0.95769	0.655000	0.94253	CCC		0.537	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		18	75	0	0	0	1	0	18	75					T	111394231	C	T	111394231	3	4	365	1	0	0	0	0	1	0	0	0	12042	623	22	2	141	2	PLCXD2	3	111394231	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	87200265	111394231	86628199	9	33974											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	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						c.(3139-3141)cAt>cTt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>T		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.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	53	0	0	0	1	0	4	53					T	178952085	A	T	178952085	3	4	365	1	0	0	0	0	1	0	0	0	11913	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-P5-A72U-01A-31D-A32B-08	67557854	178952085	19070345	10	33975											
SH3TC1	54436	broad.mit.edu	37	chr4	8229065	8229065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggcacaggcccggggGgcggccaagaaagctggcct	17	14	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:8229065G>A	ENST00000245105.3	+	12	1711	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Silent_p.G472G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	548										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCCCGGGGGGCGGCCAAGA	0.697																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1414-1416)ggG>ggA		SH3 domain and tetratricopeptide repeats 1							11	15	13					4																	8229065		2145	4232	6377	SO:0001819	synonymous_variant	54436						binding	g.chr4:8229065G>A	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.1644G>A	4.37:g.8229065G>A						SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Silent_p.G548G	p.G472G			Q8TE82	S3TC1_HUMAN			12	1790	+			548					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.1416G>A	CCDS3399.1																																																																																				0.697	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	23	0	0	0	1	0	5	23					A	8229065	G	A	8229065	2	1	365	1	0	0	0	0	0	0	0	1	14261	1219	43	2		2	SH3TC1	4	8229065	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		8229065	182925211	11	33976											
DKK2	27123	broad.mit.edu	37	chr4	107845811	107845811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgagtaccatccagagcCgggatgtgaggggttaagat	15	8	0	3	rs372180616		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:107845811C>T	ENST00000285311.3	-	3	1125	c.420G>A	c.(418-420)ccG>ccA	p.P140P	DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	140					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)		CATCCAGAGCCGGGATGTGAG	0.438																																						ENST00000285311.3																			0				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						c.(418-420)ccG>ccA		dickkopf WNT signaling pathway inhibitor 2		C		0,4406		0,0,2203	228	211	217		420	-9.8	0.9	4		217	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DKK2	NM_014421.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		140/260	107845811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845811C>T	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.420G>A	4.37:g.107845811C>T						DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P	p.P140P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	3	1125	-		Hepatocellular(203;0.217)	140					A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	ENST00000285311.3	37	c.420G>A	CCDS3675.1																																																																																				0.438	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			18	101	0	0	0	1	0	18	101					T	107845811	C	T	107845811	2	4	365	1	0	0	0	0	0	0	0	1	4545	639	23	1		1	DKK2	4	107845811	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	99616746	107845811	83308465	12	33977											
NPY5R	4889	broad.mit.edu	37	chr4	164272199	164272199	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatgatcaacttaacTcttcatccatccaaaaagag	5	9	3	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:164272199T>A	ENST00000515560.1	+	4	2296	c.774T>A	c.(772-774)acT>acA	p.T258T	NPY5R_ENST00000338566.3_Silent_p.T258T|NPY5R_ENST00000506953.1_Silent_p.T258T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	258					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)				TCAACTTAACTCTTCATCCAT	0.373																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(772-774)acT>acA		neuropeptide Y receptor Y5							70	72	72					4																	164272199		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272199T>A	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.774T>A	4.37:g.164272199T>A						NPY5R_ENST00000506953.1_Silent_p.T258T|NPY5R_ENST00000338566.3_Silent_p.T258T	p.T258T			Q15761	NPY5R_HUMAN			4	2296	+	all_hematologic(180;0.166)	Prostate(90;0.109)	258					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.774T>A	CCDS3804.1																																																																																				0.373	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		8	71	0	0	0	1	0	8	71					A	164272199	T	A	164272199	2	1	365	1	0	0	0	0	0	0	0	1	10610	1538	54	5		5	NPY5R	4	164272199	Silent	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	56426388	164272199	26882077	13	33978											
ADCY2	108	broad.mit.edu	37	chr5	7520913	7520913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccttcaacatgcgagaCgccatcattgccagcgtcct	8	16	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547																																						ENST00000338316.4																			1	Substitution - coding silent(1)	p.D157D(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(469-471)gaC>gaT		adenylate cyclase 2 (brain)							202	134	157					5																	7520913		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520913C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.471C>T	5.37:g.7520913C>T							p.D157D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	560	+			157					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.471C>T	CCDS3872.2																																																																																				0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	62	0	0	0	1	0	5	62					T	7520913	C	T	7520913	2	4	365	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7520913	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		7520913	173394347	14	33979											
CDH18	1016	broad.mit.edu	37	chr5	19747223	19747223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtgggtcttctgctctctGtctaggctttttgttgagtg	12	7	4	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:19747223G>T	ENST00000507958.1	-	6	1341	c.351C>A	c.(349-351)gaC>gaA	p.D117E	CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000511273.1_Missense_Mutation_p.D117E			Q13634	CAD18_HUMAN	cadherin 18, type 2	117	Cadherin 1. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D117E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGCTCTCTGTCTAGGCTTT	0.443																																						ENST00000507958.1																			2	Substitution - Missense(2)	p.D117E(2)	lung(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(349-351)gaC>gaA		cadherin 18, type 2							246	219	228					5																	19747223		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747223G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.351C>A	5.37:g.19747223G>T	ENSP00000425093:p.Asp117Glu					CDH18_ENST00000511273.1_Missense_Mutation_p.D117E|CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E	p.D117E			Q13634	CAD18_HUMAN			6	1341	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		117			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.351C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590921	0.66219	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.23	3.17	0.36434	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	H	0.99391	4.545	0.40666	D	0.982179	D;D	0.69078	0.995;0.997	D;D	0.91635	0.999;0.999	D	0.86231	0.1637	9	.	.	.	.	6.7328	0.23393	0.3037:0.0:0.6963:0.0	.	117;117	B4DHG6;Q13634	.;CAD18_HUMAN	E	117;117;117;117;117;117;63;117	ENSP00000371710:D117E;ENSP00000425093:D117E;ENSP00000274170:D117E;ENSP00000424931:D117E;ENSP00000422138:D117E;ENSP00000427383:D63E;ENSP00000425854:D117E	.	D	-	3	2	CDH18	19782980	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.531000	0.36018	1.210000	0.43336	-0.218000	0.12543	GAC		0.443	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		25	71	1	0	1.66031e-10	1	1.78802e-10	25	71					T	19747223	G	T	19747223	3	4	365	1	0	0	0	0	1	0	0	0	3103	1368	48	4	2061	4	CDH18	5	19747223	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	12226310	19747223	161168037	15	33980											
TMEM171	134285	broad.mit.edu	37	chr5	72419284	72419284	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttctgcttctttgtcttCggcgccgtcttgttgtgtgt	10	10	5	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:72419284C>T	ENST00000454765.2	+	2	557	c.84C>T	c.(82-84)ttC>ttT	p.F28F	TMEM171_ENST00000287773.5_Silent_p.F28F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	28						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTTGTCTTCGGCGCCGTCT	0.577																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(82-84)ttC>ttT		transmembrane protein 171							125	118	120					5																	72419284		2203	4300	6503	SO:0001819	synonymous_variant	134285					integral to membrane		g.chr5:72419284C>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.84C>T	5.37:g.72419284C>T						TMEM171_ENST00000287773.5_Silent_p.F28F	p.F28F			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	557	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	28					Q8N0S1|Q8TDT7	Silent	SNP	ENST00000454765.2	37	c.84C>T	CCDS4017.1																																																																																				0.577	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		5	96	0	0	0	1	0	5	96					T	72419284	C	T	72419284	2	4	365	1	0	0	0	0	0	0	0	1	16085	883	31	1		1	TMEM171	5	72419284	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	52672061	72419284	108495976	16	33981											
F2R	2149	broad.mit.edu	37	chr5	76028196	76028196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttctcaggaaccccaAtgataaatatgaaccatttt	4	9	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:76028196A>G	ENST00000319211.4	+	2	411	c.146A>G	c.(145-147)aAt>aGt	p.N49S		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	49					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|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 cytosolic calcium ion concentration (GO:0007204)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AGGAACCCCAATGATAAATAT	0.328																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(145-147)aAt>aGt		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						76	84	82					5																	76028196		2201	4298	6499	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028196A>G	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.146A>G	5.37:g.76028196A>G	ENSP00000321326:p.Asn49Ser						p.N49S	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	411	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	49					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.146A>G	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	A	1.440	-0.567848	0.03910	.	.	ENSG00000181104	ENST00000319211	T	0.74315	-0.83	4.91	-8.7	0.00851	.	1.492630	0.03674	N	0.244455	T	0.52419	0.1733	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.51301	-0.8723	10	0.02654	T	1	-0.3512	4.6962	0.12804	0.2593:0.1818:0.4536:0.1053	.	49	P25116	PAR1_HUMAN	S	49	ENSP00000321326:N49S	ENSP00000321326:N49S	N	+	2	0	F2R	76063952	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.256000	0.08757	-1.601000	0.01601	-0.451000	0.05528	AAT		0.328	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			15	65	0	0	0	1	0	15	65					G	76028196	A	G	76028196	3	3	365	1	0	0	0	0	1	0	0	0	5343	101	4	3	152	3	F2R	5	76028196	Missense_Mutation	SNP	A	TCGA-P5-A72U-01A-31D-A32B-08	3608912	76028196	104887064	17	33982											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725053	140725053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagatagcaacaacaacGcccgcatcacttatgcattg	6	14	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:140725053G>A	ENST00000253812.6	+	1	1453	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	485	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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAACAACGCCCGCATCAC	0.552																																						ENST00000253812.6																			0				breast(1)	1						c.(1453-1455)Gcc>Acc									90	100	97					5																	140725053		2106	4255	6361	SO:0001583	missense	0							g.chr5:140725053G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1453G>A	5.37:g.140725053G>A	ENSP00000253812:p.Ala485Thr					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A485T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1453	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1453G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.586020	0.46110	.	.	ENSG00000254245	ENST00000253812	T	0.52295	0.67	5.36	4.48	0.54585	Cadherin (4);Cadherin-like (1);	0.000000	0.33023	U	0.005375	T	0.74688	0.3749	H	0.96996	3.92	0.26334	N	0.977471	D;D	0.56968	0.978;0.959	P;P	0.55999	0.789;0.654	T	0.75764	-0.3203	10	0.87932	D	0	.	15.4136	0.74945	0.0:0.0:0.8595:0.1405	.	485;485	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	T	485	ENSP00000253812:A485T	ENSP00000253812:A485T	A	+	1	0	PCDHGA3	140705237	0.401000	0.25303	0.474000	0.27266	0.164000	0.22412	3.226000	0.51254	1.373000	0.46208	0.563000	0.77884	GCC		0.552	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	84	0	0	0	1	0	26	84					A	140725053	G	A	140725053	3	1	365	1	0	0	0	0	1	0	0	0	11555	1087	38	1	1455	1	PCDHGA3	5	140725053	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	64696857	140725053	40190207	18	33983											
ABLIM3	22885	broad.mit.edu	37	chr5	148632366	148632366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactacaagaggaagaaaccGactgcccaaggatgtagaca	11	9	0	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:148632366G>A	ENST00000506113.1	+	22	2386	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	635	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				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)			GGAAGAAACCGACTGCCCAAG	0.488																																						ENST00000506113.1																			0				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						c.(1903-1905)cGa>cAa		actin binding LIM protein family, member 3							120	117	118					5																	148632366		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148632366G>A	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.1904G>A	5.37:g.148632366G>A	ENSP00000425394:p.Arg635Gln					ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|RP11-331K21.1_ENST00000522685.1_RNA	p.R635Q			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	2386	+			635			HP.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1904G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.065982	0.55539	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.58797	0.56;0.31;0.62;0.62;0.31;0.62;0.91	4.98	3.2	0.36748	Villin headpiece (3);	0.127829	0.52532	D	0.000078	T	0.36826	0.0981	L	0.31420	0.93	0.37798	D	0.927607	B;B;B;P	0.41214	0.07;0.068;0.068;0.742	B;B;B;B	0.26094	0.025;0.012;0.012;0.066	T	0.42649	-0.9439	10	0.62326	D	0.03	.	9.8118	0.40828	0.2308:0.0:0.7692:0.0	.	121;540;524;635	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	540;524;635;635;524;602;121;120	ENSP00000315841:R540Q;ENSP00000348938:R524Q;ENSP00000310309:R635Q;ENSP00000425394:R635Q;ENSP00000421183:R524Q;ENSP00000420855:R602Q;ENSP00000430150:R121Q	ENSP00000310309:R635Q	R	+	2	0	ABLIM3	148612559	0.992000	0.36948	0.941000	0.38009	0.982000	0.71751	1.874000	0.39568	0.819000	0.34492	0.650000	0.86243	CGA		0.488	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		28	110	0	0	0	1	0	28	110					A	148632366	G	A	148632366	3	1	365	1	0	0	0	0	1	0	0	0	96	1058	37	1	1990	1	ABLIM3	5	148632366	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	7907313	148632366	32282894	19	33984											
BTNL8	79908	broad.mit.edu	37	chr5	180376261	180376261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagagacgcccggaaacaCgcaggtaccaacgcctgaga	12	12	0	3	rs145611296	byFrequency	TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:180376261C>T	ENST00000340184.4	+	7	1064	c.858C>T	c.(856-858)caC>caT	p.H286H	BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000505126.1_Silent_p.H79H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000231229.4_Missense_Mutation_p.R330C|BTNL8_ENST00000511704.1_Silent_p.H170H	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGGAAACACGCAGGTACCA	0.557													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14018	0.0		0.0	False		,,,				2504	0.0					ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(988-990)Cgc>Tgc		butyrophilin-like 8							56	63	61					5																	180376261		2165	3957	6122	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180376261C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.858C>T	5.37:g.180376261C>T						BTNL8_ENST00000505126.1_Silent_p.H79H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000340184.4_Silent_p.H286H|BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000511704.1_Silent_p.H170H	p.R330C	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1222	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	481			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.988C>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244743	0.22796	.	.	ENSG00000113303	ENST00000231229;ENST00000508408	T;T	0.02121	4.44;4.46	1.48	-1.34	0.09143	.	.	.	.	.	T	0.01765	0.0056	.	.	.	0.19775	N	0.999952	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44862	-0.9300	8	0.52906	T	0.07	.	4.2897	0.10872	0.0:0.4622:0.0:0.5378	.	323;330	F2Z2B2;A6NEX6	.;.	C	330;323	ENSP00000231229:R330C;ENSP00000424585:R323C	ENSP00000231229:R330C	R	+	1	0	BTNL8	180308867	0.005000	0.15991	0.000000	0.03702	0.538000	0.34931	-0.497000	0.06428	-0.317000	0.08677	-0.465000	0.05216	CGC		0.557	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		4	49	0	0	0	1	0	4	49					T	180376261	C	T	180376261	2	4	365	1	0	0	0	0	0	0	0	1	1567	536	19	1		1	BTNL8	5	180376261	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	31743895	180376261	538999	20	33985											
ITPR3	3710	broad.mit.edu	37	chr6	33643522	33643522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccgcatgttcctgcgCgtgctcatccacctcaccat	10	17	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:33643522C>T	ENST00000374316.5	+	26	4231	c.3171C>T	c.(3169-3171)cgC>cgT	p.R1057R	ITPR3_ENST00000605930.1_Silent_p.R1057R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					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)	TGTTCCTGCGCGTGCTCATCC	0.642																																						ENST00000374316.5																			0				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						c.(3169-3171)cgC>cgT		inositol 1,4,5-trisphosphate receptor, type 3							56	43	47					6																	33643522		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33643522C>T	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.3171C>T	6.37:g.33643522C>T						ITPR3_ENST00000605930.1_Silent_p.R1057R	p.R1057R			Q14573	ITPR3_HUMAN			26	4231	+			1057					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.3171C>T	CCDS4783.1																																																																																				0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		9	27	0	0	0	1	0	9	27					T	33643522	C	T	33643522	2	4	365	1	0	0	0	0	0	0	0	1	7922	755	27	1		1	ITPR3	6	33643522	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		33643522	137471545	21	33986											
TFAP2B	7021	broad.mit.edu	37	chr6	50791273	50791273	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctaccagccgctccccTaccaccagagccaggacccc	6	24	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:50791273T>G	ENST00000393655.3	+	2	404	c.235T>G	c.(235-237)Tac>Gac	p.Y79D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.Y88D|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	79	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCCGCTCCCCTACCACCAGAG	0.687																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(262-264)Tac>Gac		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							56	62	60					6																	50791273		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791273T>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.235T>G	6.37:g.50791273T>G	ENSP00000377265:p.Tyr79Asp					TFAP2B_ENST00000393655.3_Missense_Mutation_p.Y79D|TFAP2B_ENST00000489228.1_3'UTR	p.Y88D			Q92481	AP2B_HUMAN			3	428	+	Lung NSC(77;0.156)		79			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.262T>G	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721167	0.48728	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.91740	-2.9;-2.9;-2.9	5.36	4.18	0.49190	.	0.118223	0.64402	D	0.000013	D	0.87341	0.6153	M	0.82323	2.585	0.51767	D	0.999938	B	0.27498	0.18	B	0.18871	0.023	D	0.85581	0.1240	10	0.54805	T	0.06	-6.4947	11.6535	0.51304	0.133:0.0:0.0:0.8669	.	79	Q92481	AP2B_HUMAN	D	79;77;88	ENSP00000377265:Y79D;ENSP00000342252:Y77D;ENSP00000263046:Y88D	ENSP00000263046:Y88D	Y	+	1	0	TFAP2B	50899232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.278000	0.51662	0.855000	0.35359	0.460000	0.39030	TAC		0.687	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		10	37	0	0	0	1	0	10	37					G	50791273	T	G	50791273	3	3	365	1	0	0	0	0	1	0	0	0	15785	1522	53	5	241	5	TFAP2B	6	50791273	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	17147751	50791273	120323794	22	33987											
KDELR2	11014	broad.mit.edu	37	chr7	6505884	6505884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtctcggcctccccaGtcttgctgatcataaatagc	9	12	3	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:6505884G>A	ENST00000258739.4	-	4	606	c.422C>T	c.(421-423)aCt>aTt	p.T141I	KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	141					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGCCTCCCCAGTCTTGCTGAT	0.527																																						ENST00000258739.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(421-423)aCt>aTt		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							114	100	105					7																	6505884		2203	4300	6503	SO:0001583	missense	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6505884G>A	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.422C>T	7.37:g.6505884G>A	ENSP00000258739:p.Thr141Ile					KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	p.T141I	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	4	606	-		Ovarian(82;0.0776)	141					A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	c.422C>T	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865091	0.91511	.	.	ENSG00000136240	ENST00000258739	T	0.49720	0.77	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78612	-0.2136	10	0.52906	T	0.07	-10.6534	19.0552	0.93062	0.0:0.0:1.0:0.0	.	141	P33947	ERD22_HUMAN	I	141	ENSP00000258739:T141I	ENSP00000258739:T141I	T	-	2	0	KDELR2	6472409	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	9.705000	0.98719	2.578000	0.87016	0.460000	0.39030	ACT		0.527	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			17	69	0	0	0	1	0	17	69					A	6505884	G	A	6505884	3	1	365	1	0	0	0	0	1	0	0	0	8120	1029	36	2	399	2	KDELR2	7	6505884	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		6505884	152632779	23	33988											
PCLO	27445	broad.mit.edu	37	chr7	82581401	82581401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagtagttgcaggctgCtgtgctgtgcagctccttcc	14	10	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:82581401C>T	ENST00000333891.9	-	5	9205	c.8868G>A	c.(8866-8868)caG>caA	p.Q2956Q	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.Q2956Q	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						TTGCAGGCTGCTGTGCTGTGC	0.448																																						ENST00000423517.2																			0				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						c.(8866-8868)caG>caA		piccolo presynaptic cytomatrix protein							109	107	108					7																	82581401		1925	4150	6075	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581401C>T	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.8868G>A	7.37:g.82581401C>T						PCLO_ENST00000333891.8_Silent_p.Q2956Q	p.Q2956Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9205	-			2887						Silent	SNP	ENST00000333891.9	37	c.8868G>A	CCDS47630.1																																																																																				0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	113	0	0	0	1	0	20	113					T	82581401	C	T	82581401	2	4	365	1	0	0	0	0	0	0	0	1	11583	796	28	2		2	PCLO	7	82581401	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	76075517	82581401	76557262	24	33989											
PDIA4	9601	broad.mit.edu	37	chr7	148718147	148718147	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggaccaagactccattttCttccttaacttccaagtcgt	5	12	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:148718147C>T	ENST00000286091.4	-	2	413	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	61	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACTCCATTTTCTTCCTTAACT	0.438																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(181-183)Gaa>Aaa		protein disulfide isomerase family A, member 4							197	182	187					7																	148718147		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718147C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.181G>A	7.37:g.148718147C>T	ENSP00000286091:p.Glu61Lys						p.E61K	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	413	-	Melanoma(164;0.15)		61			Thioredoxin 1.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.181G>A	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612585	0.87258	.	.	ENSG00000155660	ENST00000286091;ENST00000413966	T;T	0.38560	1.13;1.13	4.45	4.45	0.53987	Thioredoxin-like fold (3);	0.113799	0.64402	U	0.000018	T	0.60038	0.2238	M	0.64260	1.97	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	T	0.57057	-0.7876	10	0.26408	T	0.33	.	17.4823	0.87675	0.0:1.0:0.0:0.0	.	61	P13667	PDIA4_HUMAN	K	61;109	ENSP00000286091:E61K;ENSP00000408628:E109K	ENSP00000286091:E61K	E	-	1	0	PDIA4	148349080	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	7.549000	0.82163	2.191000	0.70037	0.563000	0.77884	GAA		0.438	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		5	28	0	0	0	1	0	5	28					T	148718147	C	T	148718147	3	4	365	1	0	0	0	0	1	0	0	0	11670	922	32	2	1792	2	PDIA4	7	148718147	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	66136746	148718147	10420516	25	33990											
SNX31	169166	broad.mit.edu	37	chr8	101620772	101620772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtccatcagcacggagtCgagggatggagccatatacc	13	11	1	0	rs201556002		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:101620772C>T	ENST00000311812.2	-	8	781	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SNX31_ENST00000428383.2_Missense_Mutation_p.D112N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	211					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCACGGAGTCGAGGGATGGA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20125	0.0		0.0	False		,,,				2504	0.0					ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(631-633)Gac>Aac		sorting nexin 31							126	105	112					8																	101620772		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101620772C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.631G>A	8.37:g.101620772C>T	ENSP00000312368:p.Asp211Asn					SNX31_ENST00000428383.2_Missense_Mutation_p.D112N	p.D211N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		8	781	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		211					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.631G>A	CCDS6288.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.99	3.740209	0.69304	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.32272	1.82;1.46	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000003	T	0.62417	0.2426	M	0.86740	2.835	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	T	0.66392	-0.5935	10	0.87932	D	0	-22.7038	16.3599	0.83257	0.0:1.0:0.0:0.0	.	112;211	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	N	211;112	ENSP00000312368:D211N;ENSP00000405024:D112N	ENSP00000312368:D211N	D	-	1	0	SNX31	101689948	0.993000	0.37304	0.886000	0.34754	0.284000	0.27059	3.913000	0.56394	2.937000	0.99478	0.650000	0.86243	GAC		0.532	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		6	39	0	0	0	1	0	6	39					T	101620772	C	T	101620772	3	4	365	1	0	0	0	0	1	0	0	0	14901	884	31	1	719	1	SNX31	8	101620772	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		101620772	44743250	26	33991											
SNTB1	6641	broad.mit.edu	37	chr8	121706138	121706138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagggcgtggcttctcgCatgtacttcactgcaaggaa	11	10	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:121706138C>T	ENST00000395601.3	-	3	996	c.582G>A	c.(580-582)atG>atA	p.M194I	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	194	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGCTTCTCGCATGTACTTCA	0.488																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(580-582)atG>atA		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							74	78	76					8																	121706138		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706138C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.582G>A	8.37:g.121706138C>T	ENSP00000378965:p.Met194Ile					SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I|SNTB1_ENST00000519177.1_5'UTR	p.M194I	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	996	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		194			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.582G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632215	0.67015	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.53640	0.61;0.61	5.44	5.44	0.79542	PDZ/DHR/GLGF (3);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	N	0.25957	0.775	0.80722	D	1	B;B	0.28082	0.02;0.2	B;B	0.28465	0.023;0.09	T	0.11299	-1.0593	10	0.22109	T	0.4	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	194;194	Q13884;Q13884-2	SNTB1_HUMAN;.	I	194	ENSP00000378965:M194I;ENSP00000431124:M194I	ENSP00000378965:M194I	M	-	3	0	SNTB1	121775319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.246000	0.65411	2.814000	0.96858	0.655000	0.94253	ATG		0.488	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		3	34	0	0	0	1	0	3	34					T	121706138	C	T	121706138	3	4	365	1	0	0	0	0	1	0	0	0	14872	710	25	2	1058	2	SNTB1	8	121706138	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	20085366	121706138	24657884	27	33992											
NANS	54187	broad.mit.edu	37	chr9	100843119	100843119	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatatcagaagctctttcctGacattcccatagggtattct	6	10	3	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:100843119G>T	ENST00000210444.5	+	5	695	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	TRIM14_ENST00000478530.1_5'Flank|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTTCCTGACATTCCCAT	0.428																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(625-627)Gac>Tac		N-acetylneuraminic acid synthase							69	72	71					9																	100843119		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100843119G>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.625G>T	9.37:g.100843119G>T	ENSP00000210444:p.Asp209Tyr					NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	p.D209Y	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			5	695	+		Acute lymphoblastic leukemia(62;0.0559)	209					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.625G>T	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494875	0.85069	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.40476	1.03;1.03;1.03	5.57	5.57	0.84162	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79784	0.993;0.979	T	0.70051	-0.4978	10	0.66056	D	0.02	-40.7247	17.4337	0.87545	0.0:0.0:1.0:0.0	.	45;209	E9PGK0;Q9NR45	.;SIAS_HUMAN	Y	209;68;17	ENSP00000210444:D209Y;ENSP00000404107:D68Y;ENSP00000404642:D17Y	ENSP00000210444:D209Y	D	+	1	0	NANS	99882940	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.441000	0.97557	2.808000	0.96608	0.650000	0.86243	GAC		0.428	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		25	75	1	0	3.6726e-16	1	4.11331e-16	25	75					T	100843119	G	T	100843119	3	4	365	1	0	0	0	0	1	0	0	0	10155	1290	45	4	643	4	NANS	9	100843119	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		100843119	40370312	28	33993											
FAM129B	64855	broad.mit.edu	37	chr9	130285973	130285973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccattgttgcagtgccGgatgcagtcctgcagcacag	11	13	1	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:130285973G>A	ENST00000373312.3	-	5	787	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	192	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGCAGTGCCGGATGCAGTCC	0.587											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(574-576)Cgg>Tgg		family with sequence similarity 129, member B							78	62	67					9																	130285973		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130285973G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.574C>T	9.37:g.130285973G>A	ENSP00000362409:p.Arg192Trp		OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579	FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W|FAM129B_ENST00000468379.1_Intron	p.R192W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			5	787	-			192			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.574C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082931	0.76642	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.18174	2.23;2.23	5.24	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.74647	2.275	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.16808	-1.0390	10	0.38643	T	0.18	-42.2982	12.6231	0.56614	0.0:0.0:0.8226:0.1774	.	179;192	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	179;192	ENSP00000362411:R179W;ENSP00000362409:R192W	ENSP00000362409:R192W	R	-	1	2	FAM129B	129325794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.353000	0.34045	1.165000	0.42670	0.561000	0.74099	CGG		0.587	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		7	37	0	0	0	1	0	7	37					A	130285973	G	A	130285973	3	1	365	1	0	0	0	0	1	0	0	0	5437	1115	39	1	1706	1	FAM129B	9	130285973	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	29442854	130285973	10927458	29	33994											
EGFL7	51162	broad.mit.edu	37	chr9	139563048	139563048	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggctcacggggaccctgtCtccgagtcgttcgtgcagcg	15	14	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:139563048C>T	ENST00000371699.1	+	4	1031	c.120C>T	c.(118-120)gtC>gtT	p.V40V	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	40	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGGACCCTGTCTCCGAGTCGT	0.677																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(118-120)gtC>gtT		EGF-like-domain, multiple 7							75	72	73					9																	139563048		2203	4297	6500	SO:0001819	synonymous_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563048C>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.120C>T	9.37:g.139563048C>T						EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|EGFL7_ENST00000492002.1_3'UTR	p.V40V			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1031	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	40			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Silent	SNP	ENST00000371699.1	37	c.120C>T	CCDS7002.1																																																																																				0.677	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		26	77	0	0	0	1	0	26	77					T	139563048	C	T	139563048	2	4	365	1	0	0	0	0	0	0	0	1	4964	900	32	2		2	EGFL7	9	139563048	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	9277075	139563048	1650383	30	33995											
MYO3A	53904	broad.mit.edu	37	chr10	26377316	26377316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atatctcctggaaaaatcccGagttatccaccaagctatgt	6	11	1	0	rs200209381		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:26377316G>A	ENST00000265944.5	+	15	1710	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAATCCCGAGTTATCCAC	0.358																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1543-1545)cGa>cAa		myosin IIIA							59	61	60					10																	26377316		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377316G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1544G>A	10.37:g.26377316G>A	ENSP00000265944:p.Arg515Gln					MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q	p.R515Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1710	+			515			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1544G>A	CCDS7148.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.522688	0.96431	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.96856	-4.15;-4.15	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99464	4.58	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;0.996;1.0	D	0.98565	1.0643	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	515;515;515	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	Q	515	ENSP00000265944:R515Q;ENSP00000445909:R515Q	ENSP00000265944:R515Q	R	+	2	0	MYO3A	26417322	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CGA		0.358	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		11	19	0	0	0	1	0	11	19					A	26377316	G	A	26377316	3	1	365	1	0	0	0	0	1	0	0	0	10076	1058	37	1	1594	1	MYO3A	10	26377316	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		26377316	109157431	31	33996											
DMBT1	1755	broad.mit.edu	37	chr10	124392720	124392720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcagattattcctgCggaggcttcctatcccaacc	8	14	0	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124392720C>T	ENST00000338354.3	+	49	6130	c.6024C>T	c.(6022-6024)tgC>tgT	p.C2008C	DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368909.3_Silent_p.C2008C|DMBT1_ENST00000368956.2_Silent_p.C1380C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2008	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)				ATTATTCCTGCGGAGGCTTCC	0.478																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6022-6024)tgC>tgT		deleted in malignant brain tumors 1							109	106	106					10																	124392720		1863	4101	5964	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392720C>T		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.6024C>T	10.37:g.124392720C>T						DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000338354.3_Silent_p.C2008C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368956.2_Silent_p.C1380C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C	p.C2008C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			49	6130	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2008			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6024C>T																																																																																					0.478	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		15	42	0	0	0	1	0	15	42					T	124392720	C	T	124392720	2	4	365	1	0	0	0	0	0	0	0	1	4577	776	27	1		1	DMBT1	10	124392720	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	98015404	124392720	11142027	32	33997											
CUZD1	50624	broad.mit.edu	37	chr10	124594347	124594347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgaacaaaaagagtttgGttcaaatccacataatatgg	7	6	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124594347G>A	ENST00000368904.1	-	9	2206	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAGAGTTTGGTTCAAATCCA	0.393																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1255-1257)aaC>aaT		CUB and zona pellucida-like domains 1							79	74	75					10																	124594347		2203	4300	6503	SO:0001819	synonymous_variant	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594347G>A	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1257C>T	10.37:g.124594347G>A						CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N	p.N419N			Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	9	2206	-		all_neural(114;0.169)|Glioma(114;0.222)	419			ZP.			Silent	SNP	ENST00000368904.1	37	c.1257C>T	CCDS7631.1																																																																																				0.393	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		12	12	0	0	0	1	0	12	12					A	124594347	G	A	124594347	2	1	365	1	0	0	0	0	0	0	0	1	4066	1252	44	2		2	CUZD1	10	124594347	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	201627	124594347	10940400	33	33998											
RIC8A	60626	broad.mit.edu	37	chr11	210610	210610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacctggggacccttctcCggcactgtgtgatgatcgct	12	13	1	2	rs374226459		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:210610C>T	ENST00000526104.1	+	4	2110	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W|RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	256					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		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;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACCCTTCTCCGGCACTGTGT	0.577																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(766-768)Cgg>Tgg		RIC8 guanine nucleotide exchange factor A		C	TRP/ARG	0,4406		0,0,2203	124	122	123		766	4.7	1	11		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIC8A	NM_021932.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	256/538	210610	1,13005	2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:210610C>T	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.766C>T	11.37:g.210610C>T	ENSP00000432008:p.Arg256Trp					RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W|RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W	p.R256W			Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2110	+		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)	256					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.766C>T		.	.	.	.	.	.	.	.	.	.	C	16.64	3.179447	0.57800	0.0	1.16E-4	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.51817	0.69;0.69;0.69	4.68	4.68	0.58851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	M	0.85710	2.77	0.80722	D	1	B;B;B	0.29115	0.233;0.111;0.09	B;B;B	0.27170	0.077;0.059;0.035	T	0.60265	-0.7297	10	0.72032	D	0.01	-29.3707	12.6251	0.56626	0.1658:0.8341:0.0:0.0	.	250;256;256	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	W	256;256;250	ENSP00000432008:R256W;ENSP00000325941:R256W;ENSP00000434833:R250W	ENSP00000325941:R256W	R	+	1	2	RIC8A	200610	0.977000	0.34250	0.994000	0.49952	0.791000	0.44710	0.469000	0.22067	2.538000	0.85594	0.644000	0.83932	CGG		0.577	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		26	90	0	0	0	1	0	26	90					T	210610	C	T	210610	3	4	365	1	0	0	0	0	1	0	0	0	13355	643	23	1	780	1	RIC8A	11	210610	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		210610	134795906	34	33999											
RRM1	6240	broad.mit.edu	37	chr11	4144500	4144500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagacggaaacaggcacCccgtatatgctctacaaaga	8	12	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:4144500C>T	ENST00000300738.5	+	12	1410	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000423050.2_Silent_p.T305T|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Silent_p.T180T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	402					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)	AAACAGGCACCCCGTATATGC	0.463																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1204-1206)acC>acT		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						108	107	108					11																	4144500		2201	4298	6499	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4144500C>T	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.1206C>T	11.37:g.4144500C>T						RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000534285.1_Silent_p.T180T|RRM1_ENST00000423050.2_Silent_p.T305T	p.T402T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	12	1410	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	402					Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.1206C>T	CCDS7750.1																																																																																				0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		14	71	0	0	0	1	0	14	71					T	4144500	C	T	4144500	2	4	365	1	0	0	0	0	0	0	0	1	13681	610	22	2		2	RRM1	11	4144500	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	3933890	4144500	130862016	35	34000											
RBMXL2	27288	broad.mit.edu	37	chr11	7111074	7111074	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagagtacacccaccgCgattacggccactccagtgt	10	16	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:7111074C>T	ENST00000306904.5	+	1	910	c.723C>T	c.(721-723)cgC>cgT	p.R241R		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(721-723)cgC>cgT		RNA binding motif protein, X-linked-like 2							22	24	23					11																	7111074		2193	4277	6470	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111074C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.723C>T	11.37:g.7111074C>T							p.R241R	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	910	+			241			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.723C>T	CCDS7777.1																																																																																				0.657	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		6	29	0	0	0	1	0	6	29					T	7111074	C	T	7111074	2	4	365	1	0	0	0	0	0	0	0	1	13154	755	27	1		1	RBMXL2	11	7111074	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	2966574	7111074	127895442	36	34001											
ZDHHC13	54503	broad.mit.edu	37	chr11	19197407	19197407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcagatttctttcagtGtggctgctttggcttggtga	13	8	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:19197407G>A	ENST00000446113.2	+	17	1890	c.1769G>A	c.(1768-1770)tGt>tAt	p.C590Y	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	590					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)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTTTCAGTGTGGCTGCTTT	0.443																																						ENST00000446113.2																			0				NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1768-1770)tGt>tAt		zinc finger, DHHC-type containing 13							95	93	94					11																	19197407		1868	4106	5974	SO:0001583	missense	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19197407G>A	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.1769G>A	11.37:g.19197407G>A	ENSP00000400113:p.Cys590Tyr					ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y	p.C590Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN			17	1890	+			590					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	c.1769G>A	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222152	0.39300	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.35236	1.32;2.05	5.7	5.7	0.88788	.	0.343050	0.39146	N	0.001444	T	0.43656	0.1257	M	0.68952	2.095	0.51482	D	0.999921	D	0.57571	0.98	P	0.48982	0.597	T	0.39396	-0.9616	10	0.05721	T	0.95	-0.4592	18.608	0.91273	0.0:0.0:1.0:0.0	.	590	Q8IUH4	ZDH13_HUMAN	Y	590;460	ENSP00000400113:C590Y;ENSP00000382288:C460Y	ENSP00000382288:C460Y	C	+	2	0	ZDHHC13	19153983	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	4.865000	0.62998	2.694000	0.91930	0.467000	0.42956	TGT		0.443	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		14	44	0	0	0	1	0	14	44					A	19197407	G	A	19197407	3	1	365	1	0	0	0	0	1	0	0	0	17600	1377	48	2	1835	2	ZDHHC13	11	19197407	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	12086333	19197407	115809109	37	34002											
MADD	8567	broad.mit.edu	37	chr11	47311780	47311780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagcagtcctatgcccaCgcgggtctgggtggcatggc	16	11	1	0	rs141671072		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:47311780C>T	ENST00000311027.5	+	19	3249	c.3084C>T	c.(3082-3084)caC>caT	p.H1028H	MADD_ENST00000342922.4_Silent_p.H1008H|MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000405573.2_5'Flank	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)		CCTATGCCCACGCGGGTCTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.001					ENST00000342922.4																			0				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						c.(3022-3024)caC>caT		MAP-kinase activating death domain		C	,,,,,,,,,	0,4402		0,0,2201	114	104	107		2895,2895,3084,3024,2955,2895,3084,2895,3084,3024	-11.4	0	11	dbSNP_134	107	5,8591	4.3+/-15.6	0,5,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	,,,,,,,,,	0,5,6494	TT,TC,CC		0.0582,0.0,0.0385	,,,,,,,,,	965/1545,965/1542,1028/1648,1008/1589,985/1566,965/1546,1028/1609,965/1480,1028/1582,1008/1588	47311780	5,12993	2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47311780C>T	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.3084C>T	11.37:g.47311780C>T						MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000311027.5_Silent_p.H1028H	p.H1008H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	18	3381	+			1028						Silent	SNP	ENST00000311027.5	37	c.3024C>T	CCDS7930.1																																																																																				0.547	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			14	46	0	0	0	1	0	14	46					T	47311780	C	T	47311780	2	4	365	1	0	0	0	0	0	0	0	1	9152	535	19	1		1	MADD	11	47311780	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	28114373	47311780	87694736	38	34003											
DTX4	23220	broad.mit.edu	37	chr11	58972233	58972233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggcgagtcagacaccGtcatctggaatgaggtccac	11	13	3	2	rs376862310		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:58972233G>A	ENST00000227451.3	+	9	1815	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	571					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V465I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTCAGACACCGTCATCTGGAA	0.532																																						ENST00000227451.3																			1	Substitution - Missense(1)	p.V465I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1711-1713)Gtc>Atc		deltex homolog 4 (Drosophila)		G	ILE/VAL	0,4260		0,0,2130	76	77	77		1711	5.4	1	11		77	1,8515		0,1,4257	no	missense	DTX4	NM_015177.1	29	0,1,6387	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	571/620	58972233	1,12775	2130	4258	6388	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58972233G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1711G>A	11.37:g.58972233G>A	ENSP00000227451:p.Val571Ile					DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	p.V571I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			9	1815	+		all_epithelial(135;0.125)	571					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1711G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425456	0.83667	0.0	1.17E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.63532	-0.6616	10	0.46703	T	0.11	.	18.0339	0.89293	0.0:0.0:1.0:0.0	.	571	Q9Y2E6	DTX4_HUMAN	I	465;571	ENSP00000434055:V465I;ENSP00000227451:V571I	ENSP00000227451:V571I	V	+	1	0	DTX4	58728809	1.000000	0.71417	0.953000	0.39169	0.323000	0.28346	9.869000	0.99810	2.565000	0.86533	0.591000	0.81541	GTC		0.532	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		5	12	0	0	0	1	0	5	12					A	58972233	G	A	58972233	3	1	365	1	0	0	0	0	1	0	0	0	4797	1145	40	1	1745	1	DTX4	11	58972233	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	11660453	58972233	76034283	39	34004											
PGR	5241	broad.mit.edu	37	chr11	100998907	100998907	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgaaatccatcaccgTggtggccagcggggagcgcc	16	11	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:100998907T>C	ENST00000325455.5	-	1	2348	c.895A>G	c.(895-897)Acg>Gcg	p.T299A	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	299	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCCATCACCGTGGTGGCCAGC	0.662																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(895-897)Acg>Gcg		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						11	13	12					11																	100998907		2043	4045	6088	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998907T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.895A>G	11.37:g.100998907T>C	ENSP00000325120:p.Thr299Ala					PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A	p.T299A	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2348	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	299			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.895A>G	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917657	0.33815	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08720	3.06;3.06	4.22	-4.17	0.03857	.	0.561966	0.14971	N	0.287838	T	0.05914	0.0154	L	0.52011	1.625	0.23834	N	0.996715	B;B	0.27264	0.001;0.173	B;B	0.23716	0.002;0.048	T	0.28902	-1.0029	10	0.44086	T	0.13	.	3.4001	0.07320	0.5066:0.2168:0.0:0.2766	.	299;299	Q8TDS3;P06401	.;PRGR_HUMAN	A	299	ENSP00000325120:T299A;ENSP00000263463:T299A	ENSP00000263463:T299A	T	-	1	0	PGR	100504117	0.067000	0.21026	0.558000	0.28319	0.772000	0.43724	-1.217000	0.02979	-0.279000	0.09167	0.459000	0.35465	ACG		0.662	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			6	17	0	0	0	1	0	6	17					C	100998907	T	C	100998907	3	2	365	1	0	0	0	0	1	0	0	0	11805	1696	59	3	1938	3	PGR	11	100998907	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	42026674	100998907	34007609	40	34005											
ABCC9	10060	broad.mit.edu	37	chr12	22005315	22005315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttacccagtcagcatgcGtcagatactgtaatttgtga	8	10	3	2	rs140872303		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:22005315G>A	ENST00000261201.4	-	21	2629	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	ABCC9_ENST00000261200.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	877	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GTCAGCATGCGTCAGATACTG	0.338																																						ENST00000261200.4																			0				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						c.(2629-2631)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	122	118	119		2630,2630	4.6	1	12	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	ABCC9	NM_005691.2,NM_020297.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	877/1550,877/1550	22005315	1,13005	2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005315G>A	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.2630C>T	12.37:g.22005315G>A	ENSP00000261201:p.Thr877Met					ABCC9_ENST00000261201.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M	p.T877M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			21	2629	-			877			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2630C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617781	0.46736	2.27E-4	0.0	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.58	4.58	0.56647	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.176315	0.48767	D	0.000165	T	0.80654	0.4664	N	0.12831	0.26	0.35323	D	0.784903	P;P	0.40515	0.46;0.719	B;B	0.38106	0.172;0.265	D	0.87741	0.2585	10	0.87932	D	0	-14.5169	16.1017	0.81175	0.0:0.0:1.0:0.0	.	877;877	O60706;O60706-2	ABCC9_HUMAN;.	M	877;504;877;841	ENSP00000261200:T877M;ENSP00000440521:T504M;ENSP00000261201:T877M;ENSP00000261202:T841M	ENSP00000261200:T877M	T	-	2	0	ABCC9	21896582	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.661000	0.74422	2.520000	0.84964	0.650000	0.86243	ACG		0.338	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		18	101	0	0	0	1	0	18	101					A	22005315	G	A	22005315	3	1	365	1	0	0	0	0	1	0	0	0	59	1145	40	1	2233	1	ABCC9	12	22005315	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		22005315	111846580	41	34006											
MED13L	23389	broad.mit.edu	37	chr12	116418604	116418605	+	Frame_Shift_Ins	INS	-	-	T													ggctgcaggcccaaatcccgINStgagggatttaatgtggatc							TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:116418604_116418605insT	ENST00000281928.3	-	23	5520_5521	c.5314_5315insA	c.(5314-5316)acgfs	p.T1772fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1772						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCAAATCCCGTGAGGGATTTA	0.45																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5314-5316)gggfs		mediator complex subunit 13-like																																				SO:0001589	frameshift_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116418604_116418605insT	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5315dupA	12.37:g.116418605_116418605dupT	ENSP00000281928:p.Thr1772fs						p.G1772fs	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	23	5520_5521	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1772					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Frame_Shift_Ins	INS	ENST00000281928.3	37	c.5314_5315insA	CCDS9177.1																																																																																				0.45	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			26	86						26	86	---	---	---	---	T	116418605	-	T	116418604	7	5	365	1	0	1	1	0	0	0	0	0	9431	1145	40	0	1353	0	MED13L	12	116418604	Frame_Shift_Ins	INS	-	TCGA-P5-A72U-01A-31D-A32B-08	94413289	116418604	17433291	42	34007											
TMEM132D	121256	broad.mit.edu	37	chr12	129569084	129569084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaacccttgatctgaTtgagctcggtgtcggagacc	10	13	2	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:129569084T>C	ENST00000422113.2	-	6	1933	c.1607A>G	c.(1606-1608)aAt>aGt	p.N536S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	536					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)		CTTGATCTGATTGAGCTCGGT	0.592																																						ENST00000422113.2																			0				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						c.(1606-1608)aAt>aGt		transmembrane protein 132D							82	62	69					12																	129569084		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569084T>C	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.1607A>G	12.37:g.129569084T>C	ENSP00000408581:p.Asn536Ser					TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S	p.N536S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1933	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	536					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1607A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	0.234	-1.018579	0.02078	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.06933	3.24;3.24	4.79	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	N	0.02286	-0.61	0.41982	D	0.9908	B;B	0.26672	0.037;0.156	B;B	0.30495	0.05;0.116	T	0.49360	-0.8948	9	.	.	.	-47.1263	10.17	0.42904	0.0:0.0792:0.0:0.9208	.	536;74	Q14C87;Q14C87-2	T132D_HUMAN;.	S	74;536	ENSP00000374092:N74S;ENSP00000408581:N536S	.	N	-	2	0	TMEM132D	128135037	1.000000	0.71417	0.990000	0.47175	0.498000	0.33706	1.152000	0.31663	0.680000	0.31366	0.459000	0.35465	AAT		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		4	14	0	0	0	1	0	4	14					C	129569084	T	C	129569084	3	2	365	1	0	0	0	0	1	0	0	0	16044	1493	52	3	1708	3	TMEM132D	12	129569084	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	13150480	129569084	4282811	43	34008											
RCBTB1	55213	broad.mit.edu	37	chr13	50123697	50123697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggatcacggactgaccCcggcactggccccacatgta	13	14	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr13:50123697C>T	ENST00000378302.2	-	9	1202	c.942G>A	c.(940-942)cgG>cgA	p.R314R	RCBTB1_ENST00000546015.1_Silent_p.R314R|RCBTB1_ENST00000258646.3_Silent_p.R314R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	314					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CGGACTGACCCCGGCACTGGC	0.617																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(940-942)cgG>cgA		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							91	70	77					13																	50123697		2203	4298	6501	SO:0001819	synonymous_variant	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123697C>T	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"BTB/POZ domain containing"	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.942G>A	13.37:g.50123697C>T						RCBTB1_ENST00000258646.3_Silent_p.R314R|RCBTB1_ENST00000546015.1_Silent_p.R314R	p.R314R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1202	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	314					Q8IY29|Q969U9	Silent	SNP	ENST00000378302.2	37	c.942G>A	CCDS9418.1																																																																																				0.617	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		9	49	0	0	0	1	0	9	49					T	50123697	C	T	50123697	2	4	365	1	0	0	0	0	0	0	0	1	13171	610	22	2		2	RCBTB1	13	50123697	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		50123697	65046181	44	34009											
FAM161B	145483	broad.mit.edu	37	chr14	74404345	74404345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatagggccttgtttgtattCgctgcttcatttcctccagt	9	10	1	0	rs571286955		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr14:74404345C>A	ENST00000534936.1	-	7	1730	c.1625G>T	c.(1624-1626)cGa>cTa	p.R542L	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Missense_Mutation_p.R605L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	542										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGTTTGTATTCGCTGCTTCAT	0.343																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1813-1815)cGa>cTa		family with sequence similarity 161, member B							252	232	239					14																	74404345		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74404345C>A	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.1625G>T	14.37:g.74404345C>A	ENSP00000445326:p.Arg542Leu					FAM161B_ENST00000534936.1_Missense_Mutation_p.R542L|RP5-1021I20.5_ENST00000555916.1_RNA	p.R605L	NM_152445.2	NP_689658.2					7	2012	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.1814G>T		.	.	.	.	.	.	.	.	.	.	C	29.0	4.965052	0.92855	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.46063	1.03;0.88	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	T	0.67154	0.2863	M	0.76170	2.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.69157	-0.5219	10	0.87932	D	0	-14.9747	19.4568	0.94895	0.0:1.0:0.0:0.0	.	542	Q96MY7	F161B_HUMAN	L	605;542	ENSP00000286544:R605L;ENSP00000445326:R542L	ENSP00000286544:R605L	R	-	2	0	FAM161B	73474098	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.962000	0.63687	2.832000	0.97577	0.655000	0.94253	CGA		0.343	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		4	162	1	0	0.184627	1	0.184627	4	162					A	74404345	C	A	74404345	3	1	365	1	0	0	0	0	1	0	0	0	5473	884	31	4	330	4	FAM161B	14	74404345	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		74404345	32945195	45	34010											
ITGAX	3687	broad.mit.edu	37	chr16	31388578	31388578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtatgctgtctacactgtGgttagcaggtcagcaggtac	12	8	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:31388578G>A	ENST00000268296.4	+	23	2902	c.2781G>A	c.(2779-2781)gtG>gtA	p.V927V	ITGAX_ENST00000562522.1_Silent_p.V927V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	927					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTACACTGTGGTTAGCAGGT	0.502																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2779-2781)gtG>gtA		integrin, alpha X (complement component 3 receptor 4 subunit)							95	99	98					16																	31388578		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31388578G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2781G>A	16.37:g.31388578G>A						ITGAX_ENST00000562522.1_Silent_p.V927V	p.V927V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			23	2902	+			927					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.2781G>A	CCDS10711.1																																																																																				0.502	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		15	76	0	0	0	1	0	15	76					A	31388578	G	A	31388578	2	1	365	1	0	0	0	0	0	0	0	1	7889	1335	47	2		2	ITGAX	16	31388578	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		31388578	58966175	46	34011											
NUP93	9688	broad.mit.edu	37	chr16	56792500	56792500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catatcccacatctcccagcGattggagagtctgagtgcag	10	12	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:56792500G>T	ENST00000308159.5	+	3	351	c.230G>T	c.(229-231)cGa>cTa	p.R77L	NUP93_ENST00000569842.1_Missense_Mutation_p.R77L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	77					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)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCTCCCAGCGATTGGAGAGT	0.507																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(229-231)cGa>cTa		nucleoporin 93kDa							107	93	98					16																	56792500		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56792500G>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.230G>T	16.37:g.56792500G>T	ENSP00000310668:p.Arg77Leu					NUP93_ENST00000308159.5_Missense_Mutation_p.R77L	p.R77L			Q8N1F7	NUP93_HUMAN			3	326	+			77					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.230G>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033812	0.93575	.	.	ENSG00000102900	ENST00000308159	T	0.44482	0.92	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	L	0.48642	1.525	0.80722	D	1	P	0.41929	0.765	B	0.35278	0.199	T	0.16778	-1.0391	10	0.25751	T	0.34	-6.9594	18.679	0.91540	0.0:0.0:1.0:0.0	.	77	Q8N1F7	NUP93_HUMAN	L	77	ENSP00000310668:R77L	ENSP00000310668:R77L	R	+	2	0	NUP93	55350001	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	9.452000	0.97615	2.401000	0.81631	0.555000	0.69702	CGA		0.507	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		15	57	1	0	6.72482e-11	1	7.33617e-11	15	57					T	56792500	G	T	56792500	3	4	365	1	0	0	0	0	1	0	0	0	10772	1058	37	4	236	4	NUP93	16	56792500	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	25403922	56792500	33562253	47	34012											
AARS	118460	broad.mit.edu	37	chr16	70287893	70287893	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttagggatttgagagtctCccgcaattcatccttctgcc	8	12	3	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:70287893C>T	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Missense_Mutation_p.E817K	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TTGAGAGTCTCCCGCAATTCA	0.557											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2449-2451)Gag>Aag		alanyl-tRNA synthetase	L-Alanine(DB00160)						117	113	114					16																	70287893		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287893C>T	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"Mtr3 (mRNA transport regulator 3)-homolog (yeast)"	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287893C>T	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.E817K	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	18	2592	-		Ovarian(137;0.0365)	817						Missense_Mutation	SNP	ENST00000435634.1	37	c.2449G>A	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	18.78	3.697501	0.68386	.	.	ENSG00000090861	ENST00000261772	T	0.63580	-0.05	5.53	5.53	0.82687	.	0.051569	0.85682	D	0.000000	T	0.52661	0.1748	L	0.34521	1.04	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.004	T	0.44128	-0.9348	10	0.25106	T	0.35	-32.9919	16.9596	0.86269	0.0:1.0:0.0:0.0	.	825;817	E7ETK8;P49588	.;SYAC_HUMAN	K	817	ENSP00000261772:E817K	ENSP00000261772:E817K	E	-	1	0	AARS	68845394	1.000000	0.71417	0.977000	0.42913	0.891000	0.51852	4.751000	0.62169	2.599000	0.87857	0.655000	0.94253	GAG		0.557	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		28	129	0	0	0	1	0	28	129					T	70287893	C	T	70287893	1	4	365	0	1	0	0	0	0	0	0	0	19	864	30	2		2	AARS	16	70287893	5'Flank	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	13495393	70287893	20066860	48	34013											
SGSM2	9905	broad.mit.edu	37	chr17	2268242	2268242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcatccagaggccgcCgctgcatttcccacagggag	14	13	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:2268242C>T	ENST00000426855.2	+	10	1227	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L	SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000268989.3_Missense_Mutation_p.P351L	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	351					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)		CAGAGGCCGCCGCTGCATTTC	0.647																																						ENST00000268989.3																			0				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						c.(1051-1053)cCg>cTg		small G protein signaling modulator 2							31	35	33					17																	2268242		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2268242C>T	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.1052C>T	17.37:g.2268242C>T	ENSP00000415107:p.Pro351Leu					SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000426855.2_Missense_Mutation_p.P351L	p.P351L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	10	1229	+			351					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.1052C>T	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401169	0.96030	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.30981	1.51;1.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	T	0.64080	-0.6491	10	0.87932	D	0	-15.56	18.9161	0.92506	0.0:1.0:0.0:0.0	.	351;351;351	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	L	351	ENSP00000268989:P351L;ENSP00000415107:P351L	ENSP00000268989:P351L	P	+	2	0	SGSM2	2214992	1.000000	0.71417	0.565000	0.28409	0.977000	0.68977	7.482000	0.81143	2.715000	0.92844	0.655000	0.94253	CCG		0.647	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		8	26	0	0	0	1	0	8	26					T	2268242	C	T	2268242	3	4	365	1	0	0	0	0	1	0	0	0	14223	652	23	1	1090	1	SGSM2	17	2268242	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		2268242	78926968	49	34014											
DNAH2	146754	broad.mit.edu	37	chr17	7724586	7724586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgtacccttttcgaaCgccacaaactactattcagt	5	15	1	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:7724586C>T	ENST00000572933.1	+	73	12501	c.11041C>T	c.(11041-11043)Cgc>Tgc	p.R3681C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3681					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)				CCTTTTCGAACGCCACAAACT	0.498																																						ENST00000572933.1																			0				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						c.(11041-11043)Cgc>Tgc		dynein, axonemal, heavy chain 2							172	151	158					17																	7724586		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7724586C>T	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.11041C>T	17.37:g.7724586C>T	ENSP00000458355:p.Arg3681Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C	p.R3681C			Q9P225	DYH2_HUMAN			73	12501	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3681					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11041C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459796	0.43736	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	4.94	4.94	0.65067	.	0.380726	0.26859	N	0.022137	T	0.51890	0.1701	L	0.58354	1.805	0.80722	D	1	B;B	0.23442	0.085;0.051	B;B	0.23275	0.045;0.02	T	0.51482	-0.8700	10	0.45353	T	0.12	.	17.3025	0.87186	0.0:1.0:0.0:0.0	.	3642;3681	Q9P225-2;Q9P225	.;DYH2_HUMAN	C	3642;3681	ENSP00000373825:R3681C	ENSP00000353818:R3642C	R	+	1	0	DNAH2	7665311	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.202000	0.32271	2.465000	0.83290	0.655000	0.94253	CGC		0.498	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	97	0	0	0	1	0	10	97					T	7724586	C	T	7724586	3	4	365	1	0	0	0	0	1	0	0	0	4602	536	19	1	11327	1	DNAH2	17	7724586	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	5456344	7724586	73470624	50	34015											
PSMD11	5717	broad.mit.edu	37	chr17	30807620	30807620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaaagtagtggattccCtctacaacaaagccaagaaa	8	9	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:30807620C>T	ENST00000261712.3	+	13	1503	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	414					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)|proteasome assembly (GO:0043248)|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)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTGGATTCCCTCTACAACAA	0.498																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1240-1242)Ctc>Ttc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							65	60	62					17																	30807620		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30807620C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1240C>T	17.37:g.30807620C>T	ENSP00000261712:p.Leu414Phe					PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F	p.L414F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		13	1503	+		Breast(31;0.159)|Ovarian(249;0.182)	414					A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.1240C>T	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.906715|2.906715	0.52333|0.52333	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84768|0.84768	0.5545|0.5545	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	P|.	0.37663|.	0.604|.	B|.	0.40741|.	0.339|.	D|D	0.86906|0.86906	0.2057|0.2057	9|5	0.87932|.	D|.	0|.	-5.906|-5.906	17.0466|17.0466	0.86505|0.86505	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	414|.	O00231|.	PSD11_HUMAN|.	F|L	414|151	.|.	ENSP00000261712:L414F|.	L|P	+|+	1|2	0|0	PSMD11|PSMD11	27831733|27831733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.779000|5.779000	0.68948|0.68948	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.498	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		3	41	0	0	0	1	0	3	41					T	30807620	C	T	30807620	3	4	365	1	0	0	0	0	1	0	0	0	12694	681	24	2	1290	2	PSMD11	17	30807620	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	23083034	30807620	50387590	51	34016											
KRT40	125115	broad.mit.edu	37	chr17	39135153	39135153	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactcctggttctgtcGctccaggtcgcagcggatct	12	13	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:39135153G>A	ENST00000398486.2	-	8	1259	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	KRT40_ENST00000377755.4_Nonsense_Mutation_p.R367*|AC004231.2_ENST00000418393.1_RNA	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	367	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)				TGGTTCTGTCGCTCCAGGTCG	0.617																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1099-1101)Cga>Tga		keratin 40							94	103	100					17																	39135153		2203	4295	6498	SO:0001587	stop_gained	125115					intermediate filament	structural molecule activity	g.chr17:39135153G>A	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.1099C>T	17.37:g.39135153G>A	ENSP00000381500:p.Arg367*					KRT40_ENST00000398486.2_Nonsense_Mutation_p.R367*	p.R367*			Q6A162	K1C40_HUMAN			6	1133	-		Breast(137;0.00043)	367			Coil 2.|Rod.		Q6IFU5	Nonsense_Mutation	SNP	ENST00000398486.2	37	c.1099C>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481649	0.96307	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	.	.	.	5.56	3.49	0.39957	.	0.000000	0.31312	N	0.007880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9798	0.47488	0.0:0.125:0.6161:0.2589	.	.	.	.	X	367	.	ENSP00000366984:R367X	R	-	1	2	KRT40	36388679	0.402000	0.25311	1.000000	0.80357	0.987000	0.75469	0.513000	0.22770	0.765000	0.33221	0.655000	0.94253	CGA		0.617	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		4	130	0	0	0	1	0	4	130					A	39135153	G	A	39135153	4	1	365	1	0	0	0	0	0	1	0	0	8478	1095	38	1	204	1	KRT40	17	39135153	Nonsense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	8327533	39135153	42060057	52	34017											
LAMA3	3909	broad.mit.edu	37	chr18	21484035	21484035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcggtccttacaagagctgGcaaagcagctggaagagtga	14	9	0	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr18:21484035G>T	ENST00000313654.9	+	50	6698	c.6457G>T	c.(6457-6459)Gca>Tca	p.A2153S	LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2153	Domain II and I.				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)					ACAAGAGCTGGCAAAGCAGCT	0.552																																						ENST00000313654.9																			0				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						c.(6457-6459)Gca>Tca		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72	73	72					18																	21484035		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484035G>T	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.6457G>T	18.37:g.21484035G>T	ENSP00000324532:p.Ala2153Ser					LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S|LAMA3_ENST00000588770.1_3'UTR	p.A2153S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6698	+	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)		2153			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6457G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353345	0.82132	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77620	1.83;-1.11;2.01	6.11	6.11	0.99139	.	.	.	.	.	D	0.89829	0.6828	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.994;0.999;0.997	D	0.87620	0.2509	9	0.37606	T	0.19	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	488;544;2097;2153	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	S	2153;2097;544	ENSP00000324532:A2153S;ENSP00000382432:A2097S;ENSP00000269217:A544S	ENSP00000269217:A544S	A	+	1	0	LAMA3	19738033	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	8.150000	0.89634	2.906000	0.99361	0.655000	0.94253	GCA		0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		19	69	1	0	2.4624e-09	1	2.58552e-09	19	69					T	21484035	G	T	21484035	3	4	365	1	0	0	0	0	1	0	0	0	8607	1203	42	4	6830	4	LAMA3	18	21484035	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		21484035	56593213	53	34018											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377238	49377238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaagacctccgtgtccCcccgatcttcaggctccgac	9	18	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:49377238C>T	ENST00000200453.5	+	2	1017	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	250	Glu-rich.				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)		CTCCGTGTCCCCCCGATCTTC	0.557																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(748-750)Ccc>Tcc		protein phosphatase 1, regulatory subunit 15A							58	69	65					19																	49377238		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377238C>T	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.748C>T	19.37:g.49377238C>T	ENSP00000200453:p.Pro250Ser						p.P250S	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1017	+		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)	250			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.748C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403468	0.11754	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05447	3.44	3.83	-2.87	0.05700	.	1.542860	0.03941	N	0.286955	T	0.03915	0.0110	N	0.17312	0.475	0.09310	N	1	B	0.22080	0.064	B	0.20184	0.028	T	0.42515	-0.9447	10	0.23302	T	0.38	-1.6377	4.5667	0.12189	0.0:0.2936:0.197:0.5093	.	250	O75807	PR15A_HUMAN	S	250;90;208	ENSP00000200453:P250S	ENSP00000200453:P250S	P	+	1	0	PPP1R15A	54069050	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.042000	0.12063	-0.261000	0.09405	0.561000	0.74099	CCC		0.557	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	48	0	0	0	1	0	10	48					T	49377238	C	T	49377238	3	4	365	1	0	0	0	0	1	0	0	0	12363	623	22	2	750	2	PPP1R15A	19	49377238	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		49377238	9751745	54	34019											
NLRP12	91662	broad.mit.edu	37	chr19	54314082	54314082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgagctcctggagaggCgcgctgggctcaggccagca	17	12	1	2	rs371391087		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:54314082C>T	ENST00000324134.6	-	3	999	c.831G>A	c.(829-831)gcG>gcA	p.A277A	NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000345770.5_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	277	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGGAGAGGCGCGCTGGGCT	0.557																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(829-831)gcG>gcA		NLR family, pyrin domain containing 12		C		0,4406		0,0,2203	39	38	39		831	-4.9	0	19		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP12	NM_144687.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		277/1062	54314082	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314082C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.831G>A	19.37:g.54314082C>T						NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000345770.5_Silent_p.A277A	p.A277A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	999	-	Ovarian(34;0.19)		277			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.831G>A	CCDS12864.1																																																																																				0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	44	0	0	0	1	0	13	44					T	54314082	C	T	54314082	2	4	365	1	0	0	0	0	0	0	0	1	10474	755	27	1		1	NLRP12	19	54314082	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	4936844	54314082	4814901	55	34020											
ZNF135	7694	broad.mit.edu	37	chr19	58578819	58578819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagcgaactcacacaggcGagaagccctacgagtgcagt	12	12	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:58578819G>A	ENST00000313434.5	+	5	1068	c.967G>A	c.(967-969)Gag>Aag	p.E323K	ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K|ZNF135_ENST00000506786.1_Missense_Mutation_p.E281K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	323					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.E347K(1)|p.E323K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCACACAGGCGAGAAGCCCTA	0.542																																						ENST00000506786.1																			2	Substitution - Missense(2)	p.E347K(1)|p.E323K(1)	lung(2)	breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(841-843)Gag>Aag		zinc finger protein 135							54	52	53					19																	58578819		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578819G>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.967G>A	19.37:g.58578819G>A	ENSP00000321406:p.Glu323Lys					ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E323K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K	p.E281K			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1395	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	335					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.841G>A		.	.	.	.	.	.	.	.	.	.	G	12.84	2.058938	0.36277	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	3.19	2.09	0.27110	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46852	0.1414	M	0.69823	2.125	0.27007	N	0.964775	D;D;D	0.89917	1.0;0.994;0.976	D;D;P	0.91635	0.999;0.911;0.636	T	0.24870	-1.0148	9	0.56958	D	0.05	.	9.8472	0.41034	0.11:0.0:0.89:0.0	.	335;323;335	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	K	335;347;335;323;323;335;281	ENSP00000441410:E347K;ENSP00000369437:E335K;ENSP00000444828:E323K;ENSP00000321406:E323K;ENSP00000422074:E335K;ENSP00000427691:E281K	ENSP00000321406:E323K	E	+	1	0	ZNF135	63270631	0.999000	0.42202	0.018000	0.16275	0.003000	0.03518	2.786000	0.47790	0.639000	0.30564	0.563000	0.77884	GAG		0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		13	44	0	0	0	1	0	13	44					A	58578819	G	A	58578819	3	1	365	1	0	0	0	0	1	0	0	0	17722	1059	37	1	1170	1	ZNF135	19	58578819	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	4264737	58578819	550164	56	34021											
PLCB1	23236	broad.mit.edu	37	chr20	8862382	8862382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtgaagacagcaatcaCggttctgcccctctctccct	7	15	4	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr20:8862382C>T	ENST00000338037.6	+	32	3564	c.3537C>T	c.(3535-3537)caC>caT	p.H1179H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1179					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						ACAGCAATCACGGTTCTGCCC	0.493																																						ENST00000338037.6																			0				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						c.(3535-3537)caC>caT		phospholipase C, beta 1 (phosphoinositide-specific)							180	186	184					20																	8862382		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862382C>T	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.3537C>T	20.37:g.8862382C>T						PLCB1_ENST00000378641.3_3'UTR	p.H1179H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN			32	3564	+			1179					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.3537C>T	CCDS13102.1																																																																																				0.493	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			49	140	0	0	0	1	0	49	140					T	8862382	C	T	8862382	2	4	365	1	0	0	0	0	0	0	0	1	12027	535	19	1		1	PLCB1	20	8862382	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		8862382	54163138	57	34022											
MX2	4600	broad.mit.edu	37	chr21	42774001	42774001	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catttgagatcatcgtgcatCagtacatccagcagctggtg	10	10	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr21:42774001C>T	ENST00000330714.3	+	11	1703	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	507					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CATCGTGCATCAGTACATCCA	0.458																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1519-1521)Cag>Tag		myxovirus (influenza virus) resistance 2 (mouse)							111	105	107					21																	42774001		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42774001C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1519C>T	21.37:g.42774001C>T	ENSP00000333657:p.Gln507*					MX2_ENST00000496774.1_3'UTR	p.Q507*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			11	1703	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	507					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.1519C>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075859	0.76415	.	.	ENSG00000183486	ENST00000330714	.	.	.	3.69	0.039	0.14202	.	0.433417	0.24564	N	0.037445	.	.	.	.	.	.	0.35297	D	0.782681	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	7.3841	0.26872	0.3449:0.2808:0.3744:0.0	.	.	.	.	X	507	.	ENSP00000333657:Q507X	Q	+	1	0	MX2	41695871	0.196000	0.23350	0.000000	0.03702	0.177000	0.22998	0.452000	0.21795	-0.118000	0.11851	-0.356000	0.07607	CAG		0.458	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		11	59	0	0	0	1	0	11	59					T	42774001	C	T	42774001	4	4	365	1	0	0	0	0	0	1	0	0	9998	827	29	2	1557	2	MX2	21	42774001	Nonsense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		42774001	5355894	58	34023											
LZTR1	8216	broad.mit.edu	37	chr22	21349017	21349017	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgagccaactcaagGtgtggggtggggtcagcgca	17	9	2	1	rs145594158		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:21349017G>A	ENST00000215739.8	+	15	2144		c.e15+1		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	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)			CCAACTCAAGGTGTGGGGTGG	0.682																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.e15+1		leucine-zipper-like transcription regulator 1		G		0,4404		0,0,2202	36	35	35			3.7	1	22	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	LZTR1	NM_006767.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077			21349017	1,13003	2202	4300	6502	SO:0001630	splice_region_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349017G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1785+1G>A	22.37:g.21349017G>A						LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site		NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	2144	+	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)						Q14776|Q20WK0	Splice_Site	SNP	ENST00000215739.8	37		CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659899	0.47572	0.0	1.16E-4	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	4.72	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7208	0.57142	0.0:0.1667:0.8333:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19679017	1.000000	0.71417	0.980000	0.43619	0.662000	0.39071	9.583000	0.98217	1.188000	0.43014	0.457000	0.33378	.		0.682	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	Intron	8	17	0	0	0	1	0	8	17					A	21349017	G	A	21349017	5	1	365	1	0	0	0	0	0	0	1	0	9137	1275	44	2	1844	2	LZTR1	22	21349017	Splice_Site	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		21349017	29955549	59	34024											
SREBF2	6721	broad.mit.edu	37	chr22	42266998	42266998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaacccggccctcaccGccctcaccacccctatccag	5	23	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:42266998G>A	ENST00000361204.4	+	4	992	c.826G>A	c.(826-828)Gcc>Acc	p.A276T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	276	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						GGCCCTCACCGCCCTCACCAC	0.577																																						ENST00000361204.4																			0				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						c.(826-828)Gcc>Acc		sterol regulatory element binding transcription factor 2							121	119	120					22																	42266998		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42266998G>A	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.826G>A	22.37:g.42266998G>A	ENSP00000354476:p.Ala276Thr						p.A276T	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			4	992	+			276			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.826G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	8.934	0.964080	0.18583	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.52754	0.65	5.49	5.49	0.81192	.	0.162453	0.56097	D	0.000026	T	0.30696	0.0773	N	0.22421	0.69	0.41565	D	0.988658	B	0.30021	0.265	B	0.14023	0.01	T	0.11792	-1.0573	10	0.27082	T	0.32	-28.2406	12.684	0.56938	0.0756:0.0:0.9244:0.0	.	276	Q12772	SRBP2_HUMAN	T	276	ENSP00000354476:A276T	ENSP00000354476:A276T	A	+	1	0	SREBF2	40596944	1.000000	0.71417	0.984000	0.44739	0.689000	0.40095	3.551000	0.53698	2.577000	0.86979	0.455000	0.32223	GCC		0.577	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		50	83	0	0	0	1	0	50	83					A	42266998	G	A	42266998	3	1	365	1	0	0	0	0	1	0	0	0	15141	1087	38	1	840	1	SREBF2	22	42266998	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	20917981	42266998	9037568	60	34025											
MAGEB4	4115	broad.mit.edu	37	chrX	30261033	30261033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctggaataccagcaggtgCccaacagtgatcccccacgc	9	15	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30261033C>A	ENST00000378982.2	+	1	977	c.781C>A	c.(781-783)Ccc>Acc	p.P261T	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGCAGGTGCCCAACAGTGA	0.493																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(781-783)Ccc>Acc		melanoma antigen family B, 4							67	64	65					X																	30261033		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261033C>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.781C>A	X.37:g.30261033C>A	ENSP00000368266:p.Pro261Thr						p.P261T	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	977	+			261			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.781C>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846656	0.32606	.	.	ENSG00000120289	ENST00000378982	T	0.05925	3.37	3.31	0.371	0.16168	.	0.078074	0.52532	U	0.000077	T	0.21801	0.0525	M	0.88031	2.925	0.09310	N	1	D	0.69078	0.997	D	0.71414	0.973	T	0.04294	-1.0962	10	0.87932	D	0	.	5.0598	0.14551	0.0:0.4621:0.4083:0.1297	.	261	O15481	MAGB4_HUMAN	T	261	ENSP00000368266:P261T	ENSP00000368266:P261T	P	+	1	0	MAGEB4	30170954	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.255000	0.02872	-0.036000	0.13669	-0.229000	0.12294	CCC		0.493	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		9	54	1	0	0.0581538	1	0.0588544	9	54					A	30261033	C	A	30261033	3	1	365	1	0	0	0	0	1	0	0	0	9178	739	26	4	783	4	MAGEB4	23	30261033	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		30261033	125009527	61	34026											
TAB3	257397	broad.mit.edu	37	chrX	30873304	30873304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtttgcatggaagatgGctgttgaggtggttgtgaag	16	4	0	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30873304G>T	ENST00000378933.1	-	3	655	c.478C>A	c.(478-480)Cca>Aca	p.P160T	TAB3_ENST00000378930.3_Missense_Mutation_p.P160T|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.P160T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	160	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						ATGGAAGATGGCTGTTGAGGT	0.478																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(478-480)Cca>Aca		TGF-beta activated kinase 1/MAP3K7 binding protein 3							231	166	188					X																	30873304		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873304G>T	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.478C>A	X.37:g.30873304G>T	ENSP00000368215:p.Pro160Thr					TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378930.3_Missense_Mutation_p.P160T|TAB3_ENST00000378932.2_Missense_Mutation_p.P160T	p.P160T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	655	-			160			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.478C>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666777	0.47677	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.69	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000003	T	0.66684	0.2814	L	0.36672	1.1	0.43238	D	0.995142	P;P	0.50819	0.939;0.9	P;B	0.45474	0.482;0.289	T	0.67696	-0.5604	10	0.37606	T	0.19	-3.4198	17.7859	0.88538	0.0:0.0:1.0:0.0	.	160;160	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	T	160	ENSP00000368215:P160T;ENSP00000368212:P160T;ENSP00000288422:P160T;ENSP00000368214:P160T	ENSP00000288422:P160T	P	-	1	0	TAB3	30783225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.217000	0.77982	2.219000	0.72066	0.600000	0.82982	CCA		0.478	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		33	114	1	0	2.47316e-13	1	2.73349e-13	33	114					T	30873304	G	T	30873304	3	4	365	1	0	0	0	0	1	0	0	0	15494	1203	42	4	1684	4	TAB3	23	30873304	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	612271	30873304	124397256	62	34027											
HDX	139324	broad.mit.edu	37	chrX	83577004	83577004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttcctctaattcaggagGtaaatctgacagcagtgcct	8	10	3	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:83577004G>T	ENST00000297977.5	-	10	2077	c.1966C>A	c.(1966-1968)Cct>Act	p.P656T	HDX_ENST00000373177.2_Missense_Mutation_p.P656T|HDX_ENST00000506585.2_Missense_Mutation_p.P598T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	656						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATTCAGGAGGTAAATCTGAC	0.343																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1966-1968)Cct>Act		highly divergent homeobox							57	47	50					X																	83577004		2203	4298	6501	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83577004G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1966C>A	X.37:g.83577004G>T	ENSP00000297977:p.Pro656Thr					HDX_ENST00000506585.2_Missense_Mutation_p.P598T|HDX_ENST00000373177.2_Missense_Mutation_p.P656T	p.P656T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			10	2077	-			656					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1966C>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339258	0.60963	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.49720	0.88;0.77;0.88	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	L	0.34521	1.04	0.52099	D	0.999949	D	0.89917	1.0	D	0.83275	0.996	T	0.64630	-0.6362	10	0.87932	D	0	-15.4854	18.5022	0.90886	0.0:0.0:1.0:0.0	.	656	Q7Z353	HDX_HUMAN	T	656;598;656	ENSP00000297977:P656T;ENSP00000362272:P598T;ENSP00000423670:P656T	ENSP00000297977:P656T	P	-	1	0	HDX	83463660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.549000	0.73900	2.311000	0.77944	0.600000	0.82982	CCT		0.343	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		8	16	1	0	0.000274275	1	0.000280965	8	16					T	83577004	G	T	83577004	3	4	365	1	0	0	0	0	1	0	0	0	7026	1261	44	4	110	4	HDX	23	83577004	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	52703700	83577004	71693556	63	34028											
CSTF2	1478	broad.mit.edu	37	chrX	100075434	100075434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgactgtgagagacccagCggtggatcgttctctacgtt	12	9	1	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:100075434C>T	ENST00000372972.2	+	1	45	c.29C>T	c.(28-30)gCg>gTg	p.A10V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.A10V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	10					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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGACCCAGCGGTGGATCGT	0.567																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(28-30)gCg>gTg		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							148	104	119					X																	100075434		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100075434C>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.29C>T	X.37:g.100075434C>T	ENSP00000362063:p.Ala10Val					CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.A10V	p.A10V			P33240	CSTF2_HUMAN			1	51	+			10					Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.29C>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394825	0.83011	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.74209	-0.82;-0.82	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	N	0.24115	0.695	0.80722	D	1	B;B;B	0.33238	0.355;0.337;0.403	B;B;B	0.27076	0.035;0.076;0.055	T	0.67647	-0.5617	10	0.72032	D	0.01	-7.8588	16.6695	0.85262	0.0:1.0:0.0:0.0	.	10;10;10	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	10	ENSP00000387996:A10V;ENSP00000362063:A10V	ENSP00000362063:A10V	A	+	2	0	CSTF2	99962090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.357000	0.73051	2.196000	0.70406	0.600000	0.82982	GCG		0.567	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		11	41	0	0	0	1	0	11	41					T	100075434	C	T	100075434	3	4	365	1	0	0	0	0	1	0	0	0	3984	768	27	1	31	1	CSTF2	23	100075434	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	16498430	100075434	55195126	64	34029											
GPRASP1	9737	broad.mit.edu	37	chrX	101911740	101911740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccagaaaatgaggaagggGccattgttgggtcttggttt	15	5	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:101911740G>T	ENST00000361600.5	+	5	3700	c.2899G>T	c.(2899-2901)Gcc>Tcc	p.A967S	GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000537097.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	967	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						TGAGGAAGGGGCCATTGTTGG	0.483																																						ENST00000537097.1																			0				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						c.(2899-2901)Gcc>Tcc		G protein-coupled receptor associated sorting protein 1							123	111	115					X																	101911740		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911740G>T	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.2899G>T	X.37:g.101911740G>T	ENSP00000355146:p.Ala967Ser					GPRASP1_ENST00000361600.5_Missense_Mutation_p.A967S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA	p.A967S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3712	+			967			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2899G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	3.122	-0.180399	0.06380	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	2.82	-4.14	0.03892	.	.	.	.	.	T	0.04092	0.0114	N	0.11427	0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38972	-0.9636	9	0.29301	T	0.29	-0.0139	2.4078	0.04417	0.5381:0.1381:0.1837:0.1401	.	967	Q5JY77	GASP1_HUMAN	S	967	ENSP00000393691:A967S;ENSP00000409420:A967S;ENSP00000355146:A967S;ENSP00000445683:A967S	ENSP00000355146:A967S	A	+	1	0	GPRASP1	101798396	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.481000	0.06552	-1.477000	0.01872	-0.422000	0.05995	GCC		0.483	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		8	116	1	0	1.12685e-05	1	1.16859e-05	8	116					T	101911740	G	T	101911740	3	4	365	1	0	0	0	0	1	0	0	0	6722	1203	42	4	2901	4	GPRASP1	23	101911740	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	1836306	101911740	53358820	65	34030											
PHGDH	26227	broad.mit.edu	37	chr1	120263899	120263899	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcacaggtgtggacaAtgtggatctggaggccgcaa	17	8	1	0	rs587625944		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:120263899A>G	ENST00000369409.4	+	2	381	c.245A>G	c.(244-246)aAt>aGt	p.N82S	PHGDH_ENST00000369407.3_Missense_Mutation_p.N48S	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	82					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GGTGTGGACAATGTGGATCTG	0.582													A|||	1	0.000199681	0.0	0.0	5008	,	,		18991	0.001		0.0	False		,,,				2504	0.0					ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(142-144)aAt>aGt		phosphoglycerate dehydrogenase	NADH(DB00157)						133	119	124					1																	120263899		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120263899A>G	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.245A>G	1.37:g.120263899A>G	ENSP00000358417:p.Asn82Ser					PHGDH_ENST00000369409.4_Missense_Mutation_p.N82S	p.N48S			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	1	1650	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	82					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.143A>G	CCDS904.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946731	0.92593	.	.	ENSG00000092621	ENST00000369409;ENST00000369407	D;D	0.86230	-2.09;-2.09	5.92	5.92	0.95590	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.78223	2.4	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.93269	0.6650	10	0.87932	D	0	-9.138	15.1874	0.73016	1.0:0.0:0.0:0.0	.	48;82	Q5SZU1;O43175	.;SERA_HUMAN	S	82;48	ENSP00000358417:N82S;ENSP00000358415:N48S	ENSP00000358415:N48S	N	+	2	0	PHGDH	120065422	1.000000	0.71417	0.938000	0.37757	0.861000	0.49209	9.113000	0.94321	2.270000	0.75569	0.459000	0.35465	AAT		0.582	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		16	69	0	0	0	1	0	16	69					G	120263899	A	G	120263899	3	3	366	1	0	0	0	0	1	0	0	0	11841	101	4	3	251	3	PHGDH	1	120263899	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		120263899	128986722	1	34031											
DENND4B	9909	broad.mit.edu	37	chr1	153912182	153912182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagcggaggaaggctcCttggacttcgcgctccagcc	13	13	0	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:153912182C>T	ENST00000361217.4	-	12	2120	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	568	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				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)			AGGAAGGCTCCTTGGACTTCG	0.627																																						ENST00000361217.4																			0				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						c.(1702-1704)Gga>Aga		DENN/MADD domain containing 4B							73	86	82					1																	153912182		2040	4173	6213	SO:0001583	missense	9909							g.chr1:153912182C>T	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.1702G>A	1.37:g.153912182C>T	ENSP00000354597:p.Gly568Arg						p.G568R	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	2120	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		568			dDENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1702G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163829	0.94727	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.40225	1.04;1.04	5.14	5.14	0.70334	dDENN (3);	0.129442	0.52532	D	0.000077	T	0.31420	0.0796	N	0.03608	-0.345	0.52099	D	0.999945	D	0.63046	0.992	D	0.68039	0.955	T	0.50136	-0.8863	10	0.48119	T	0.1	-12.941	17.5443	0.87857	0.0:1.0:0.0:0.0	.	568	O75064	DEN4B_HUMAN	R	568;579	ENSP00000354597:G568R;ENSP00000357635:G579R	ENSP00000354597:G568R	G	-	1	0	DENND4B	152178806	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.475000	0.81041	2.689000	0.91719	0.462000	0.41574	GGA		0.627	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		18	47	0	0	0	1	0	18	47					T	153912182	C	T	153912182	3	4	366	1	0	0	0	0	1	0	0	0	4434	690	24	2	2856	2	DENND4B	1	153912182	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	33648283	153912182	95338439	2	34032											
OBSCN	84033	broad.mit.edu	37	chr1	228465550	228465550	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaatcgcgagcccagctcCgagtgaagggtgaggtgggg	18	9	0	3	rs201725133		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:228465550C>T	ENST00000422127.1	+	25	6894	c.6850C>T	c.(6850-6852)Cga>Tga	p.R2284*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R2713*|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2284					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)				AGCCCAGCTCCGAGTGAAGGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		10920	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				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						c.(8137-8139)Cga>Tga		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	stop/ARG,stop/ARG	1,3785		0,1,1892	48	49	48		6850,6850	1	1	1		48	2,8210		0,2,4104	yes	stop-gained,stop-gained	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,5996	TT,TC,CC		0.0244,0.0264,0.025	,	2284/7969,2284/6621	228465550	3,11995	1893	4106	5999	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228465550C>T	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.6850C>T	1.37:g.228465550C>T	ENSP00000409493:p.Arg2284*					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R2284*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	p.R2713*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			30	8211	+		Prostate(94;0.0405)	1710			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.8137C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	47	13.424517	0.99741	2.64E-4	2.44E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	.	.	.	4.28	0.997	0.19851	.	0.422636	0.19583	N	0.110813	.	.	.	.	.	.	0.21184	N	0.999768	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	12.2601	0.54645	0.7049:0.2951:0.0:0.0	.	.	.	.	X	2284;2284;1131	.	ENSP00000284548:R2284X	R	+	1	2	OBSCN	226532173	0.928000	0.31464	0.996000	0.52242	0.650000	0.38633	2.319000	0.43788	0.451000	0.26802	-0.678000	0.03780	CGA		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		20	19	0	0	0	1	0	20	19					T	228465550	C	T	228465550	4	4	366	1	0	0	0	0	0	1	0	0	10812	644	23	1	6944	1	OBSCN	1	228465550	Nonsense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	74553368	228465550	20785071	3	34033											
TARBP1	6894	broad.mit.edu	37	chr1	234546220	234546220	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aatattttgagtaataatgtCtaaatgtgataaaactgcta	6	3	1	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:234546220C>G	ENST00000040877.1	-	23	3762	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H	TARBP1_ENST00000483404.1_5'Flank	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1255					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)			GTAATAATGTCTAAATGTGAT	0.244																																						ENST00000040877.1																			0				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						c.(3763-3765)Gac>Cac		TAR (HIV-1) RNA binding protein 1							50	54	53					1																	234546220		2199	4294	6493	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234546220C>G		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.3763G>C	1.37:g.234546220C>G	ENSP00000040877:p.Asp1255His						p.D1255H	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		23	3762	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1255					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3763G>C	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279844	0.23392	.	.	ENSG00000059588	ENST00000040877	T	0.33865	1.39	4.73	4.73	0.59995	Armadillo-type fold (1);	0.353853	0.31989	N	0.006754	T	0.43144	0.1234	M	0.68317	2.08	0.41287	D	0.986952	P	0.51653	0.947	P	0.47744	0.556	T	0.29761	-1.0001	10	0.15499	T	0.54	-1.6049	16.4216	0.83760	0.0:1.0:0.0:0.0	.	1255	Q13395	TARB1_HUMAN	H	1255	ENSP00000040877:D1255H	ENSP00000040877:D1255H	D	-	1	0	TARBP1	232612843	1.000000	0.71417	0.991000	0.47740	0.037000	0.13140	3.531000	0.53546	2.609000	0.88269	0.467000	0.42956	GAC		0.244	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		13	17	0	0	0	1	0	13	17					G	234546220	C	G	234546220	3	3	366	1	0	0	0	0	1	0	0	0	15552	913	32	4	1134	4	TARBP1	1	234546220	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	6080670	234546220	14704401	4	34034											
OR2T6	254879	broad.mit.edu	37	chr1	248551088	248551088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccacacccccatgtActtcctcctcagccacctct	2	21	4	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:248551088A>G	ENST00000355728.2	+	1	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	60						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(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ACCCCCATGTACTTCCTCCTC	0.483																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(178-180)tAc>tGc		olfactory receptor, family 2, subfamily T, member 6							229	178	196					1																	248551088		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551088A>G	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.179A>G	1.37:g.248551088A>G	ENSP00000347965:p.Tyr60Cys						p.Y60C	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	179	+	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)		60					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.179A>G	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387798	0.61956	.	.	ENSG00000198104	ENST00000355728	T	0.15718	2.4	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000965	T	0.52964	0.1767	H	0.97158	3.95	0.40599	D	0.981561	D	0.89917	1.0	D	0.87578	0.998	T	0.66650	-0.5870	10	0.87932	D	0	.	9.7686	0.40576	0.8456:0.0:0.0:0.1543	.	60	Q8NHC8	OR2T6_HUMAN	C	60	ENSP00000347965:Y60C	ENSP00000347965:Y60C	Y	+	2	0	OR2T6	246617711	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.212000	0.72188	1.962000	0.57031	0.523000	0.50628	TAC		0.483	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		10	39	0	0	0	1	0	10	39					G	248551088	A	G	248551088	3	3	366	1	0	0	0	0	1	0	0	0	11029	391	14	3	181	3	OR2T6	1	248551088	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	14004868	248551088	699533	5	34035											
KCNJ3	3760	broad.mit.edu	37	chr2	155555776	155555776	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagggcatcatcctcttcctCttccagtccatcctgggctc	8	16	3	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:155555776C>G	ENST00000295101.2	+	1	966	c.489C>G	c.(487-489)ctC>ctG	p.L163L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572																																						ENST00000295101.2																			1	Substitution - coding silent(1)	p.L163L(1)	lung(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(487-489)ctC>ctG		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						105	85	92					2																	155555776		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555776C>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.489C>G	2.37:g.155555776C>G						KCNJ3_ENST00000544049.1_Silent_p.L163L	p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			1	966	+			163					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.489C>G	CCDS2200.1																																																																																				0.572	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		22	24	0	0	0	1	0	22	24					G	155555776	C	G	155555776	2	3	366	1	0	0	0	0	0	0	0	1	8052	900	32	4		4	KCNJ3	2	155555776	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		155555776	87643597	6	34036											
TTN	7273	broad.mit.edu	37	chr2	179455517	179455517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacccatttgccagttactTctcgacgttccatatagtag	6	12	2	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:179455517T>G	ENST00000591111.1	-	254	56236	c.56012A>C	c.(56011-56013)gAa>gCa	p.E18671A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000589042.1_Missense_Mutation_p.E20312A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18671	Fibronectin type-III 35. {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)			GCCAGTTACTTCTCGACGTTC	0.438																																						ENST00000589042.1																			0				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						c.(60934-60936)gAa>gCa		titin							114	109	110					2																	179455517		1911	4125	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455517T>G	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.56012A>C	2.37:g.179455517T>G	ENSP00000465570:p.Glu18671Ala					TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18671A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A	p.E20312A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61159	-			18671					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	ENST00000591111.1	37	c.60935A>C		.	.	.	.	.	.	.	.	.	.	T	12.86	2.065768	0.36470	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67429	0.2892	L	0.53617	1.68	0.58432	D	0.999999	D;D;D;D	0.57571	0.961;0.961;0.961;0.98	P;P;P;P	0.54924	0.764;0.764;0.764;0.764	T	0.70292	-0.4912	9	0.87932	D	0	.	16.7021	0.85357	0.0:0.0:0.0:1.0	.	11247;11372;11439;18671	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	17744;11247;11439;11372;11245	ENSP00000343764:E17744A;ENSP00000434586:E11247A;ENSP00000340554:E11439A;ENSP00000352154:E11372A	ENSP00000340554:E11439A	E	-	2	0	TTN	179163763	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.991000	0.88244	2.343000	0.79666	0.533000	0.62120	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	42	0	0	0	1	0	36	42					G	179455517	T	G	179455517	3	3	366	1	0	0	0	0	1	0	0	0	16732	1783	62	5	47280	5	TTN	2	179455517	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08	23899741	179455517	63743856	7	34037											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	15	0	0	0	1	0	17	15					T	209113112	C	T	209113112	3	4	366	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	29657595	209113112	34086261	8	34038											
GLB1L	79411	broad.mit.edu	37	chr2	220101997	220101997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcaggaatcttggcaCgtagagggtctgttgtggcc	14	8	2	1	rs144432913		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:220101997C>T	ENST00000295759.7	-	17	2075	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	588					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTTGGCACGTAGAGGGTC	0.512																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1762-1764)Gtg>Atg		galactosidase, beta 1-like		C	MET/VAL	0,4406		0,0,2203	100	99	99		1762	5.4	1	2	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GLB1L	NM_024506.3	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	588/655	220101997	2,13004	2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220101997C>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1762G>A	2.37:g.220101997C>T	ENSP00000295759:p.Val588Met					GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M	p.V588M			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2075	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	588					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1762G>A	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909555	0.72868	0.0	2.33E-4	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	5.38	5.38	0.77491	Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000006	D	0.98166	0.9394	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.98268	1.0502	10	0.51188	T	0.08	-19.3614	19.3333	0.94303	0.0:1.0:0.0:0.0	.	498;588	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	M	588;498;588;498	ENSP00000295759:V588M;ENSP00000386354:V498M;ENSP00000375939:V588M;ENSP00000348628:V498M	ENSP00000295759:V588M	V	-	1	0	GLB1L	219810241	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	7.439000	0.80444	2.793000	0.96121	0.655000	0.94253	GTG		0.512	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		5	35	0	0	0	1	0	5	35					T	220101997	C	T	220101997	3	4	366	1	0	0	0	0	1	0	0	0	6428	536	19	1	206	1	GLB1L	2	220101997	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	10988885	220101997	23097376	9	34039											
FANCD2	2177	broad.mit.edu	37	chr3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttctgaagcaatgtatgCcgctcctagacttcagtttt	7	10	2	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:10136015C>T	ENST00000419585.1	+	40	4092	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.P1311S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					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)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				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						c.(3931-3933)Ccg>Tcg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							244	257	253					3																	10136015		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10136015C>T	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.3931C>T	3.37:g.10136015C>T	ENSP00000398754:p.Pro1311Ser					FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron	p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4024	+			1311					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3931C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665905	0.88251	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.62788	-0.0;-0.0;-0.0	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81022	-0.1121	10	0.49607	T	0.09	.	12.6777	0.56903	0.0:0.9205:0.0:0.0795	.	1311;1311	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	1311	ENSP00000287647:P1311S;ENSP00000373318:P1311S;ENSP00000398754:P1311S	ENSP00000287647:P1311S	P	+	1	0	FANCD2	10111015	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.360000	0.79487	1.478000	0.48253	0.644000	0.83932	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	250	0	0	0	1	0	4	250					T	10136015	C	T	10136015	3	4	366	1	0	0	0	0	1	0	0	0	5665	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		10136015	187886415	10	34040											
OSBPL10	114884	broad.mit.edu	37	chr3	31774775	31774775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctctggctgtgaggtttgttCgtcttcagcagagtttggta	13	7	3	2	rs553816050		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:31774775C>G	ENST00000396556.2	-	6	1191	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	357					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1069-1071)Gaa>Caa		oxysterol binding protein-like 10							143	136	139					3																	31774775		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31774775C>G	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1069G>C	3.37:g.31774775C>G	ENSP00000379804:p.Glu357Gln					OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q|OSBPL10_ENST00000467647.1_5'UTR	p.E357Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	6	1191	-			357					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1069G>C	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	8.744	0.919725	0.17982	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.45668	1.92;2.23;0.89	5.33	2.39	0.29439	.	1.825470	0.02021	N	0.047764	T	0.38639	0.1048	L	0.50333	1.59	0.09310	N	1	B;B;B	0.20671	0.025;0.047;0.035	B;B;B	0.23852	0.004;0.049;0.019	T	0.21552	-1.0242	10	0.33940	T	0.23	-4.6031	3.9614	0.09412	0.2412:0.5228:0.1496:0.0864	.	293;357;125	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	Q	357;293;165	ENSP00000379804:E357Q;ENSP00000406124:E293Q;ENSP00000399200:E165Q	ENSP00000379804:E357Q	E	-	1	0	OSBPL10	31749779	0.001000	0.12720	0.011000	0.14972	0.067000	0.16453	0.881000	0.28173	1.395000	0.46643	0.555000	0.69702	GAA		0.453	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			18	60	0	0	0	1	0	18	60					G	31774775	C	G	31774775	3	3	366	1	0	0	0	0	1	0	0	0	11275	893	31	4	1253	4	OSBPL10	3	31774775	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	21638760	31774775	166247655	11	34041											
SCAP	22937	broad.mit.edu	37	chr3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													actgttcttccccaggtagaCtgtctgtaacaggtccccgt							TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)acagtcfs	p.TV1235fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2. {ECO:0000250}.				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)		CCCAGGTAGACTGTCTGTAACAGG	0.583																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3703-3708)tcfs		SREBF chaperone																																				SO:0001589	frameshift_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455478_47455481delCTGT	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.3703_3706delACAG	3.37:g.47455482_47455485delCTGT	ENSP00000265565:p.Thr1235fs					SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs|SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs	p.TV1235fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4115_4118	-			1235			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Frame_Shift_Del	DEL	ENST00000265565.5	37	c.3703_3706delACAG	CCDS2755.2																																																																																				0.583	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		8	210						8	210	---	---	---	---	-	47455481	CTGT	-	47455478	7	5	366	1	0	1	0	1	0	0	0	0	13877	565	20	0	137	0	SCAP	3	47455478	Frame_Shift_Del	DEL	CTGT	TCGA-P5-A72W-01A-11D-A32B-08	15680703	47455478	150566952	12	34042											
COL7A1	1294	broad.mit.edu	37	chr3	48618703	48618703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcttacatctcgtcctCgggggccaacaggtcctggg	12	14	2	0	rs201196696		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:48618703C>T	ENST00000328333.8	-	51	4996	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1630	Triple-helical region.				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)		ATCTCGTCCTCGGGGGCCAAC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17576	0.0		0.0	False		,,,				2504	0.0					ENST00000328333.8																			0				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						c.(4888-4890)cGa>cAa		collagen, type VII, alpha 1																																				SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48618703C>T	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.4889G>A	3.37:g.48618703C>T	ENSP00000332371:p.Arg1630Gln					COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q	p.R1630Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	51	4996	-			1630			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4889G>A	CCDS2773.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.60	2.882060	0.51908	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93307	-3.2;-3.2	5.61	4.74	0.60224	.	0.000000	0.37761	N	0.001944	D	0.88948	0.6576	L	0.31926	0.97	0.32677	N	0.516033	P	0.42123	0.771	B	0.42138	0.377	D	0.88712	0.3223	10	0.23302	T	0.38	.	11.701	0.51571	0.0:0.9188:0.0:0.0812	.	1630	Q02388	CO7A1_HUMAN	Q	1630	ENSP00000332371:R1630Q;ENSP00000412569:R1630Q	ENSP00000332371:R1630Q	R	-	2	0	COL7A1	48593707	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.897000	0.39799	1.367000	0.46095	0.655000	0.94253	CGA		0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	21	0	0	0	1	0	3	21					T	48618703	C	T	48618703	3	4	366	1	0	0	0	0	1	0	0	0	3704	884	31	1	4217	1	COL7A1	3	48618703	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	1163225	48618703	149403727	13	34043											
FAT1	2195	broad.mit.edu	37	chr4	187530420	187530420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttggttgccatctaTaattgagtagtggatgtggc	12	7	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr4:187530420T>G	ENST00000441802.2	-	16	10332	c.10123A>C	c.(10123-10125)Ata>Cta	p.I3375L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3375	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						TTGCCATCTATAATTGAGTAG	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(10123-10125)Ata>Cta		FAT atypical cadherin 1							127	122	124					4																	187530420		1932	4137	6069	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530420T>G	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.10123A>C	4.37:g.187530420T>G	ENSP00000406229:p.Ile3375Leu	HNSCC(5;0.00058)					p.I3375L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10332	-			3375			Cadherin 31.			Missense_Mutation	SNP	ENST00000441802.2	37	c.10123A>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.815059	0.32053	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.42131	0.98	5.35	1.66	0.24008	Cadherin (4);Cadherin-like (1);	0.287896	0.40640	N	0.001042	T	0.21921	0.0528	N	0.05487	-0.04	0.30493	N	0.771152	B	0.22414	0.069	B	0.34093	0.175	T	0.30650	-0.9971	10	0.12430	T	0.62	.	8.888	0.35416	0.0:0.2146:0.0:0.7854	.	3375	Q14517	FAT1_HUMAN	L	3375;3377	ENSP00000406229:I3375L	ENSP00000260147:I3377L	I	-	1	0	FAT1	187767414	1.000000	0.71417	0.589000	0.28718	0.249000	0.25844	1.745000	0.38278	0.352000	0.24053	-0.264000	0.10439	ATA		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	13	0	0	0	1	0	11	13					G	187530420	T	G	187530420	3	3	366	1	0	0	0	0	1	0	0	0	5689	1406	49	5	3691	5	FAT1	4	187530420	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		187530420	3623856	14	34044											
RAD50	10111	broad.mit.edu	37	chr5	131972886	131972886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgaagtacctatcgtGgacaaggtgagtaccatggt	14	7	0	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr5:131972886G>A	ENST00000265335.6	+	22	3856	c.3469G>A	c.(3469-3471)Gga>Aga	p.G1157R	RAD50_ENST00000378823.3_Missense_Mutation_p.G1018R|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1157					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)			TACCTATCGTGGACAAGGTGA	0.433								Homologous recombination																														ENST00000378823.3																			0				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						c.(3052-3054)Gga>Aga	Homologous recombination	RAD50 homolog (S. cerevisiae)							230	239	236					5																	131972886		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131972886G>A	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.3469G>A	5.37:g.131972886G>A	ENSP00000265335:p.Gly1157Arg					AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.G1157R	p.G1018R	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		22	3870	+		all_cancers(142;0.0368)|Breast(839;0.198)	1157					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3052G>A	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.161295|4.161295	0.78226|0.78226	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000455677	T;T|.	0.03441|.	3.93;3.93|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86623|.	0.5977|.	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.68192|.	0.956|.	D|.	0.88206|.	0.2887|.	10|.	0.87932|.	D|.	0|.	-24.2032|-24.2032	20.2447|20.2447	0.98397|0.98397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1157|.	Q92878|.	RAD50_HUMAN|.	R|X	1018;1157|35	ENSP00000368100:G1018R;ENSP00000265335:G1157R|.	ENSP00000265335:G1157R|.	G|W	+|+	1|2	0|0	RAD50|RAD50	132000785|132000785	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.426000|0.426000	0.31534|0.31534	9.458000|9.458000	0.97634|0.97634	2.790000|2.790000	0.95986|0.95986	0.609000|0.609000	0.83330|0.83330	GGA|TGG		0.433	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		75	112	0	0	0	1	0	75	112					A	131972886	G	A	131972886	3	1	366	1	0	0	0	0	1	0	0	0	12984	1349	47	2	3555	2	RAD50	5	131972886	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		131972886	48942374	15	34045											
ARHGAP18	93663	broad.mit.edu	37	chr6	129929056	129929056	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actctggacagcctgaaaggCtttgagatactccacactga	9	11	1	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr6:129929056C>G	ENST00000368149.2	-	9	1352	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P		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)		GCCTGAAAGGCTTTGAGATAC	0.468																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1264-1266)Gcc>Ccc		Rho GTPase activating protein 18							94	90	91					6																	129929056		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129929056C>G	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.1264G>C	6.37:g.129929056C>G	ENSP00000357131:p.Ala422Pro						p.A422P	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	9	1352	-			422			Rho-GAP.			Missense_Mutation	SNP	ENST00000368149.2	37	c.1264G>C	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867557	0.91587	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.87	5.01	0.66863	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.046596	0.85682	D	0.000000	T	0.76528	0.4000	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.87578	0.998;0.932	T	0.80856	-0.1195	8	.	.	.	.	15.2995	0.73936	0.0:0.9331:0.0:0.0669	.	422;422	A9UK01;Q8N392	.;RHG18_HUMAN	P	377;422	.	.	A	-	1	0	ARHGAP18	129970749	1.000000	0.71417	0.958000	0.39756	0.959000	0.62525	6.015000	0.70791	1.635000	0.50512	0.655000	0.94253	GCC		0.468	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		24	17	0	0	0	1	0	24	17					G	129929056	C	G	129929056	3	3	366	1	0	0	0	0	1	0	0	0	868	797	28	4	755	4	ARHGAP18	6	129929056	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		129929056	41186011	16	34046											
ANLN	54443	broad.mit.edu	37	chr7	36462334	36462334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtccccaaagtgaatttAtgccatccaaaggatcagtt	7	10	1	1	rs530432252		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:36462334A>G	ENST00000265748.2	+	14	2613	c.2392A>G	c.(2392-2394)Atg>Gtg	p.M798V	ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	798	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAGTGAATTTATGCCATCCAA	0.398													A|||	1	0.000199681	0.0	0.0	5008	,	,		17301	0.0		0.0	False		,,,				2504	0.001					ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2392-2394)Atg>Gtg		anillin, actin binding protein							193	191	192					7																	36462334		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36462334A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2392A>G	7.37:g.36462334A>G	ENSP00000265748:p.Met798Val					ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	p.M798V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			14	2613	+			798			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2392A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	0.485	-0.878229	0.02550	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.10960	2.84;2.82	5.96	3.11	0.35812	.	0.415653	0.28853	N	0.013924	T	0.03695	0.0105	N	0.08118	0	0.22479	N	0.999064	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45249	-0.9274	10	0.02654	T	1	-1.349	4.4859	0.11790	0.1409:0.1226:0.6099:0.1266	.	675;760;761;798	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	V	798;761	ENSP00000265748:M798V;ENSP00000379380:M761V	ENSP00000265748:M798V	M	+	1	0	ANLN	36428859	0.012000	0.17670	0.990000	0.47175	0.647000	0.38526	0.345000	0.19979	0.369000	0.24510	-0.472000	0.04984	ATG		0.398	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		36	49	0	0	0	1	0	36	49					G	36462334	A	G	36462334	3	3	366	1	0	0	0	0	1	0	0	0	694	449	16	3	2446	3	ANLN	7	36462334	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		36462334	122676329	17	34047											
RAMP3	10268	broad.mit.edu	37	chr7	45222877	45222877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttcttctccaactgcAccgtggacagggtccacttg	11	13	2	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:45222877A>G	ENST00000242249.4	+	3	351	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A|RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	105					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTCCAACTGCACCGTGGACAG	0.622																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(313-315)Acc>Gcc		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						97	96	96					7																	45222877		2203	4300	6503	SO:0001583	missense	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222877A>G	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.313A>G	7.37:g.45222877A>G	ENSP00000242249:p.Thr105Ala					RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A|RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A	p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	351	+			105					Q7Z2Y1	Missense_Mutation	SNP	ENST00000242249.4	37	c.313A>G	CCDS5503.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354868	0.24512	.	.	ENSG00000122679	ENST00000242249;ENST00000481345;ENST00000496212	T;T;T	0.41065	1.01;1.01;1.01	4.37	1.85	0.25348	.	0.231983	0.42420	D	0.000712	T	0.39682	0.1087	L	0.46947	1.48	0.40674	D	0.982244	P	0.47604	0.898	P	0.49192	0.602	T	0.11155	-1.0599	10	0.34782	T	0.22	-35.7831	7.8359	0.29369	0.4726:0.0:0.0:0.5273	.	105	O60896	RAMP3_HUMAN	A	105	ENSP00000242249:T105A;ENSP00000419012:T105A;ENSP00000418460:T105A	ENSP00000242249:T105A	T	+	1	0	RAMP3	45189402	1.000000	0.71417	0.670000	0.29842	0.233000	0.25261	2.371000	0.44248	0.069000	0.16605	-0.327000	0.08410	ACC		0.622	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		39	50	0	0	0	1	0	39	50					G	45222877	A	G	45222877	3	3	366	1	0	0	0	0	1	0	0	0	13023	159	6	3	323	3	RAMP3	7	45222877	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	8760543	45222877	113915786	18	34048											
KLHL38	340359	broad.mit.edu	37	chr8	124664297	124664297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctgtccttccttccGcccaagaggatgaggaaatc	11	12	0	2	rs369848638		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:124664297G>A	ENST00000325995.7	-	1	893	c.870C>T	c.(868-870)ggC>ggT	p.G290G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	290										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCCTTCCGCCCAAGAGGA	0.547																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(868-870)ggC>ggT		kelch-like family member 38		G		0,4040		0,0,2020	101	101	101		870	-11.4	0.4	8		101	1,8377		0,1,4188	no	coding-synonymous	KLHL38	NM_001081675.2		0,1,6208	AA,AG,GG		0.0119,0.0,0.0081		290/582	124664297	1,12417	2020	4189	6209	SO:0001819	synonymous_variant	340359							g.chr8:124664297G>A		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.870C>T	8.37:g.124664297G>A						CTD-2552K11.2_ENST00000524355.1_RNA	p.G290G	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	893	-			290					A0PK12	Silent	SNP	ENST00000325995.7	37	c.870C>T	CCDS43766.1																																																																																				0.547	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			75	41	0	0	0	1	0	75	41					A	124664297	G	A	124664297	2	1	366	1	0	0	0	0	0	0	0	1	8390	1074	38	1		1	KLHL38	8	124664297	Silent	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		124664297	21699725	19	34049											
PLEC	5339	broad.mit.edu	37	chr8	144995605	144995605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctcccggacgatgaggCccttctgcatggcttggaag	14	12	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:144995605C>T	ENST00000322810.4	-	32	8964	c.8795G>A	c.(8794-8796)gGc>gAc	p.G2932D	PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D|PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D|PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2932	Globular 2.				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						GACGATGAGGCCCTTCTGCAT	0.672																																						ENST00000322810.4																			0				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						c.(8794-8796)gGc>gAc		plectin							46	53	51					8																	144995605		2025	4170	6195	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995605C>T	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.8795G>A	8.37:g.144995605C>T	ENSP00000323856:p.Gly2932Asp					PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D|PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D	p.G2932D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8964	-			2932			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8795G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.904	0.350970	0.11182	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	4.94	1.21	0.21127	.	0.382752	0.22531	N	0.058843	T	0.37571	0.1008	N	0.02357	-0.585	0.37451	D	0.914802	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	0.06405	0.001;0.002;0.002;0.001;0.002;0.001;0.001;0.001	T	0.42649	-0.9439	10	0.02654	T	1	.	11.0278	0.47755	0.0:0.1345:0.0:0.8655	.	2822;2781;2773;2932;2763;2795;2799;2795	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	2795;2799;2795;2763;2932;2773;2781;2822;2818	ENSP00000344848:G2795D;ENSP00000350277:G2799D;ENSP00000346602:G2795D;ENSP00000381756:G2763D;ENSP00000323856:G2932D;ENSP00000347044:G2773D;ENSP00000348702:G2781D;ENSP00000388180:G2822D;ENSP00000434583:G2818D	ENSP00000323856:G2932D	G	-	2	0	PLEC	145067593	0.040000	0.19996	0.989000	0.46669	0.351000	0.29236	0.074000	0.14662	0.042000	0.15717	-1.316000	0.01300	GGC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	78	0	0	0	1	0	4	78					T	144995605	C	T	144995605	3	4	366	1	0	0	0	0	1	0	0	0	12052	739	26	2	5263	2	PLEC	8	144995605	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	20331308	144995605	1368417	20	34050											
PTER	9317	broad.mit.edu	37	chr10	16526678	16526678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggggctttggtggaaaacAcaaccactgggattagccga	14	8	0	0	rs181845043		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:16526678A>G	ENST00000378000.1	+	3	541	c.295A>G	c.(295-297)Aca>Gca	p.T99A	PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGTGGAAAACACAACCACTGG	0.443													A|||	1	0.000199681	0.0	0.0	5008	,	,		17656	0.0		0.001	False		,,,				2504	0.0				Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(295-297)Aca>Gca		phosphotriesterase related							72	77	75					10																	16526678		2203	4300	6503	SO:0001583	missense	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526678A>G	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.295A>G	10.37:g.16526678A>G	ENSP00000367239:p.Thr99Ala					PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			3	541	+			99					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	ENST00000378000.1	37	c.295A>G	CCDS7111.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	26.7	4.766974	0.90020	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	H	0.94264	3.515	0.80722	D	1	D;D	0.62365	0.988;0.991	D;D	0.68039	0.944;0.955	D	0.85774	0.1357	10	0.87932	D	0	-21.479	16.0133	0.80420	1.0:0.0:0.0:0.0	.	99;99	Q96BW5-2;Q96BW5	.;PTER_HUMAN	A	99	ENSP00000439485:T99A;ENSP00000389535:T99A;ENSP00000367239:T99A;ENSP00000298942:T99A	ENSP00000298942:T99A	T	+	1	0	PTER	16566684	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	9.339000	0.96797	2.179000	0.69175	0.533000	0.62120	ACA		0.443	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		23	32	0	0	0	1	0	23	32					G	16526678	A	G	16526678	3	3	366	1	0	0	0	0	1	0	0	0	12739	159	6	3	297	3	PTER	10	16526678	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		16526678	119008069	21	34051											
CDH23	64072	broad.mit.edu	37	chr10	73450310	73450310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatctactccttggaaggCtccacccagtttcggatcaa	7	13	3	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:73450310C>T	ENST00000224721.6	+	19	2165	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G	CDH23_ENST00000299366.7_Silent_p.G760G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	715	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTTGGAAGGCTCCACCCAGT	0.622																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2158-2160)ggC>ggT		cadherin-related 23							55	58	57					10																	73450310		1940	4135	6075	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73450310C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2160C>T	10.37:g.73450310C>T						CDH23_ENST00000299366.7_Silent_p.G760G	p.G720G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			19	2165	+			715			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2160C>T																																																																																					0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		2	1	0	0	0	1	0	2	1					T	73450310	C	T	73450310	2	4	366	1	0	0	0	0	0	0	0	1	3108	784	28	2		2	CDH23	10	73450310	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	56923632	73450310	62084437	22	34052											
ENTPD1	953	broad.mit.edu	37	chr10	97605280	97605280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctatggcaaggactacaAtgtctacacacatagcttct	6	12	3	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:97605280A>G	ENST00000371205.4	+	6	1023	c.740A>G	c.(739-741)aAt>aGt	p.N247S	ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S|ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.N109S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	247					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGGACTACAATGTCTACACA	0.488																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(325-327)aAt>aGt		ectonucleoside triphosphate diphosphohydrolase 1							149	131	137					10																	97605280		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97605280A>G	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.740A>G	10.37:g.97605280A>G	ENSP00000360248:p.Asn247Ser					ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000371205.4_Missense_Mutation_p.N247S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S	p.N109S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	5	913	+		Colorectal(252;0.0821)	247					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.326A>G	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.679339	0.00751	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.41	-8.75	0.00834	.	1.673390	0.02348	N	0.075651	T	0.02888	0.0086	N	0.01352	-0.895	0.09310	N	1	B;B;B;B;B	0.11235	0.003;0.002;0.004;0.003;0.001	B;B;B;B;B	0.12156	0.007;0.004;0.006;0.007;0.002	T	0.32134	-0.9918	10	0.02654	T	1	1.3172	3.7537	0.08576	0.4274:0.3209:0.1701:0.0817	.	259;259;254;247;254	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	S	254;254;259;139;109;109;247	ENSP00000390955:N254S;ENSP00000360250:N259S;ENSP00000442968:N139S;ENSP00000440027:N109S;ENSP00000360246:N109S;ENSP00000360248:N247S	ENSP00000360246:N109S	N	+	2	0	ENTPD1	97595270	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.092000	0.03366	-1.495000	0.01831	-0.353000	0.07706	AAT		0.488	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		39	44	0	0	0	1	0	39	44					G	97605280	A	G	97605280	3	3	366	1	0	0	0	0	1	0	0	0	5138	101	4	3	859	3	ENTPD1	10	97605280	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	24154970	97605280	37929467	23	34053											
MUC5B	727897	broad.mit.edu	37	chr11	1272726	1272726	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accgcctcctccactctgggAacagctcacacccccaaagt	6	19	2	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:1272726A>T	ENST00000529681.1	+	31	14674	c.14616A>T	c.(14614-14616)ggA>ggT	p.G4872G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.G4875G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4872	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)		CCACTCTGGGAACAGCTCACA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14623-14625)ggA>ggT		mucin 5B, oligomeric mucus/gel-forming							62	81	75					11																	1272726		2140	4233	6373	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272726A>T	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.14616A>T	11.37:g.1272726A>T						MUC5B_ENST00000529681.1_Silent_p.G4872G	p.G4875G			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14683	+		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)	4872			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.14625A>T	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	26	0	0	0	1	0	25	26					T	1272726	A	T	1272726	2	4	366	1	0	0	0	0	0	0	0	1	9979	233	9	5		5	MUC5B	11	1272726	Silent	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		1272726	133733790	24	34054											
LUZP2	338645	broad.mit.edu	37	chr11	24753686	24753686	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttaaaaaacgatgagcagtCtgccaaaactgatgttcaga	8	8	2	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:24753686C>G	ENST00000336930.6	+	3	269	c.203C>G	c.(202-204)tCt>tGt	p.S68C	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	68						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGAGCAGTCTGCCAAAACT	0.338																																						ENST00000336930.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(202-204)tCt>tGt		leucine zipper protein 2							60	61	61					11																	24753686		2202	4299	6501	SO:0001583	missense	338645					extracellular region		g.chr11:24753686C>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.203C>G	11.37:g.24753686C>G	ENSP00000336817:p.Ser68Cys					LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR	p.S68C			Q86TE4	LUZP2_HUMAN			3	269	+			68					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.203C>G	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	8.472	0.857744	0.17178	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.26067	1.76;1.76	5.68	4.74	0.60224	.	0.415795	0.26903	N	0.021917	T	0.45357	0.1338	L	0.54323	1.7	0.41724	D	0.989523	D	0.89917	1.0	D	0.73380	0.98	T	0.44190	-0.9344	10	0.72032	D	0.01	-3.7116	13.5251	0.61591	0.1572:0.8428:0.0:0.0	.	68	Q86TE4	LUZP2_HUMAN	C	68	ENSP00000336817:S68C;ENSP00000437032:S68C	ENSP00000336817:S68C	S	+	2	0	LUZP2	24710262	1.000000	0.71417	0.055000	0.19348	0.272000	0.26649	3.466000	0.53071	1.325000	0.45301	0.650000	0.86243	TCT		0.338	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		6	10	0	0	0	1	0	6	10					G	24753686	C	G	24753686	3	3	366	1	0	0	0	0	1	0	0	0	9087	913	32	4	213	4	LUZP2	11	24753686	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	23480960	24753686	110252830	25	34055											
OR4P4	81300	broad.mit.edu	37	chr11	55406056	55406056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctttgctacacatccacaGtgacccccaaattaatggtt	5	13	0	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:55406056G>T	ENST00000314612.2	+	1	223	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACATCCACAGTGACCCCCAA	0.408																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(223-225)Gtg>Ttg		olfactory receptor, family 4, subfamily P, member 4							149	128	136					11																	55406056		2179	4030	6209	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406056G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.223G>T	11.37:g.55406056G>T	ENSP00000324831:p.Val75Leu						p.V75L	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	223	+			75						Missense_Mutation	SNP	ENST00000314612.2	37	c.223G>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681604	0.29872	.	.	ENSG00000181927	ENST00000314612	T	0.01725	4.67	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37136	N	0.002223	T	0.04003	0.0112	M	0.64170	1.965	0.09310	N	1	P	0.50443	0.935	P	0.49140	0.601	T	0.36335	-0.9752	10	0.49607	T	0.09	-8.4015	8.105	0.30881	0.1722:0.0:0.8278:0.0	.	75	Q8NGL7	OR4P4_HUMAN	L	75	ENSP00000324831:V75L	ENSP00000324831:V75L	V	+	1	0	OR4P4	55162632	0.000000	0.05858	0.094000	0.20943	0.003000	0.03518	0.807000	0.27140	2.395000	0.81488	0.637000	0.83480	GTG		0.408	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		52	71	1	0	6.3008e-33	1	6.68657e-33	52	71					T	55406056	G	T	55406056	3	4	366	1	0	0	0	0	1	0	0	0	11080	1029	36	4	225	4	OR4P4	11	55406056	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	30652370	55406056	79600460	26	34056											
SLC43A3	29015	broad.mit.edu	37	chr11	57193592	57193592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaagcccaggcattcCagcagcccagtcagcagtgt	10	15	1	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:57193592C>T	ENST00000395123.2	-	3	358	c.54G>A	c.(52-54)ctG>ctA	p.L18L	SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Silent_p.L18L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	18					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						CCAGGCATTCCAGCAGCCCAG	0.552																																						ENST00000395123.2																			0				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						c.(52-54)ctG>ctA		solute carrier family 43, member 3							83	86	85					11																	57193592		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57193592C>T	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.54G>A	11.37:g.57193592C>T						SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000395124.1_Silent_p.L18L|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L|SLC43A3_ENST00000528098.1_5'UTR	p.L18L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			3	358	-			18					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.54G>A	CCDS7956.1																																																																																				0.552	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		12	88	0	0	0	1	0	12	88					T	57193592	C	T	57193592	2	4	366	1	0	0	0	0	0	0	0	1	14634	581	21	2		2	SLC43A3	11	57193592	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	1787536	57193592	77812924	27	34057											
SSSCA1	10534	broad.mit.edu	37	chr11	65338967	65338967	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccccagcccccagtacctcGtccggagcactgtgagggag	13	16	0	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:65338967G>C	ENST00000309328.3	+	4	424	c.362G>C	c.(361-363)cGt>cCt	p.R121P	SSSCA1_ENST00000531405.1_Missense_Mutation_p.R84P|FAM89B_ENST00000316409.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank|FAM89B_ENST00000449319.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	121	Pro-rich.				mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCAGTACCTCGTCCGGAGCAC	0.662																																						ENST00000531405.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(250-252)cGt>cCt		Sjogren syndrome/scleroderma autoantigen 1							58	61	60					11																	65338967		2201	4296	6497	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65338967G>C	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.362G>C	11.37:g.65338967G>C	ENSP00000312318:p.Arg121Pro					SSSCA1_ENST00000309328.3_Missense_Mutation_p.R121P|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron	p.R84P			O60232	SSA27_HUMAN			3	487	+			121						Missense_Mutation	SNP	ENST00000309328.3	37	c.251G>C	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237651	0.58886	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.49720	0.78;0.77	4.94	4.94	0.65067	.	0.053463	0.64402	D	0.000001	T	0.63070	0.2480	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.61407	-0.7069	10	0.42905	T	0.14	-9.9546	13.5309	0.61621	0.0:0.0:1.0:0.0	.	121	O60232	SSA27_HUMAN	P	121;84;115	ENSP00000312318:R121P;ENSP00000435432:R115P	ENSP00000312318:R121P	R	+	2	0	SSSCA1	65095543	1.000000	0.71417	0.968000	0.41197	0.852000	0.48524	6.067000	0.71193	2.564000	0.86499	0.655000	0.94253	CGT		0.662	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		7	86	0	0	0	1	0	7	86					C	65338967	G	C	65338967	3	2	366	1	0	0	0	0	1	0	0	0	15194	1145	40	4	376	4	SSSCA1	11	65338967	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	8145375	65338967	69667549	28	34058											
XRRA1	143570	broad.mit.edu	37	chr11	74618234	74618235	+	Frame_Shift_Del	DEL	TC	TC	-													aagcaactggggttggagagTctgttgtcatccagcatcag							TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:74618234_74618235delTC	ENST00000340360.6	-	9	1047_1048	c.716_717delGA	c.(715-717)agafs	p.R239fs	XRRA1_ENST00000533598.1_5'Flank|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs|XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTTGGAGAGTCTGTTGTCATC	0.55																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(715-717)afs		X-ray radiation resistance associated 1																																				SO:0001589	frameshift_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74618234_74618235delTC	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.716_717delGA	11.37:g.74618234_74618235delTC	ENSP00000339918:p.Arg239fs					XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs	p.R239fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			9	1047_1048	-			239						Frame_Shift_Del	DEL	ENST00000340360.6	37	c.716_717delGA	CCDS44680.1																																																																																				0.55	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		38	78						38	78	---	---	---	---	-	74618235	TC	-	74618234	7	5	366	1	0	1	0	1	0	0	0	0	17458	1664	58	0	1705	0	XRRA1	11	74618234	Frame_Shift_Del	DEL	TC	TCGA-P5-A72W-01A-11D-A32B-08	9279267	74618234	60388282	29	34059											
RNF26	79102	broad.mit.edu	37	chr11	119206053	119206053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgatcgaagccgtggtccGgttcacatgtgggggcttgc	15	10	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:119206053G>T	ENST00000311413.4	+	1	817	c.221G>T	c.(220-222)cGg>cTg	p.R74L	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	74						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCGTGGTCCGGTTCACATGT	0.587																																						ENST00000311413.4																			0				cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(220-222)cGg>cTg		ring finger protein 26							161	147	151					11																	119206053		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206053G>T	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.221G>T	11.37:g.119206053G>T	ENSP00000312439:p.Arg74Leu						p.R74L	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	817	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	74			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.221G>T	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322378	0.60634	.	.	ENSG00000173456	ENST00000311413	T	0.30981	1.51	5.25	4.34	0.51931	.	0.488759	0.19373	N	0.115848	T	0.18002	0.0432	N	0.14661	0.345	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.15263	-1.0443	10	0.59425	D	0.04	-0.3095	8.6671	0.34127	0.0815:0.1535:0.7649:0.0	.	74	Q9BY78	RNF26_HUMAN	L	74	ENSP00000312439:R74L	ENSP00000312439:R74L	R	+	2	0	RNF26	118711263	0.006000	0.16342	0.222000	0.23844	0.941000	0.58515	1.661000	0.37408	1.211000	0.43351	0.655000	0.94253	CGG		0.587	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		41	110	1	0	7.63091e-17	1	7.93615e-17	41	110					T	119206053	G	T	119206053	3	4	366	1	0	0	0	0	1	0	0	0	13486	1116	39	4	223	4	RNF26	11	119206053	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	44587819	119206053	15800463	30	34060											
CLEC4D	338339	broad.mit.edu	37	chr12	8673742	8673742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggcataagaatgaacccGacaactctcagggagaaaac	9	10	2	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:8673742G>A	ENST00000299665.2	+	6	716	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	175	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAATGAACCCGACAACTCTCA	0.338																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(523-525)Gac>Aac		C-type lectin domain family 4, member D							128	122	124					12																	8673742		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673742G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.523G>A	12.37:g.8673742G>A	ENSP00000299665:p.Asp175Asn						p.D175N	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			6	716	+	Lung SC(5;0.184)		175			C-type lectin.		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.523G>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219542	0.01542	.	.	ENSG00000166527	ENST00000299665	T	0.16743	2.32	4.22	1.84	0.25277	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.02970	0.0088	N	0.00355	-1.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	9	0.02654	T	1	.	4.4983	0.11851	0.6996:0.1979:0.1025:0.0	.	175	Q8WXI8	CLC4D_HUMAN	N	175	ENSP00000299665:D175N	ENSP00000299665:D175N	D	+	1	0	CLEC4D	8565009	0.004000	0.15560	0.038000	0.18304	0.007000	0.05969	0.951000	0.29135	0.401000	0.25424	-0.255000	0.11280	GAC		0.338	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		19	22	0	0	0	1	0	19	22					A	8673742	G	A	8673742	3	1	366	1	0	0	0	0	1	0	0	0	3514	1058	37	1	545	1	CLEC4D	12	8673742	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		8673742	125178153	31	34061											
PLCZ1	89869	broad.mit.edu	37	chr12	18847986	18847986	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcagatccatgggcAgaccaggggtctggaaattt	12	8	1	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:18847986A>T	ENST00000538330.1	-	8	1046	c.665T>A	c.(664-666)cTg>cAg	p.L222Q	PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000534932.1_5'Flank|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q|PLCZ1_ENST00000542762.1_5'Flank|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L440Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATCCATGGGCAGACCAGGGGT	0.353																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1318-1320)cTg>cAg		phospholipase C, zeta 1							76	78	77					12																	18847986		2203	4298	6501	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18847986A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.665T>A	12.37:g.18847986A>T	ENSP00000445880:p.Leu222Gln					PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L222Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q	p.L440Q			Q86YW0	PLCZ1_HUMAN			12	1582	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		440			PI-PLC Y-box.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1319T>A		.	.	.	.	.	.	.	.	.	.	A	10.96	1.498377	0.26861	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421	T;T;T;T;T;T;T	0.66099	-0.19;0.48;0.48;-0.19;0.48;-0.19;-0.19	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.985698	0.08271	N	0.971515	T	0.72630	0.3484	M	0.67625	2.065	0.09310	N	1	D;D	0.60575	0.988;0.988	P;P	0.60682	0.878;0.878	T	0.57406	-0.7817	10	0.34782	T	0.22	.	6.8488	0.24003	0.8892:0.0:0.1108:0.0	.	440;222	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	Q	222;440;438;245;303;247;175	ENSP00000445880:L222Q;ENSP00000266505:L440Q;ENSP00000402358:L438Q;ENSP00000400504:L245Q;ENSP00000443349:L303Q;ENSP00000445026:L247Q;ENSP00000445889:L175Q	ENSP00000266505:L440Q	L	-	2	0	PLCZ1	18739253	0.002000	0.14202	0.988000	0.46212	0.630000	0.37929	1.683000	0.37638	1.826000	0.53198	0.260000	0.18958	CTG		0.353	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		19	51	0	0	0	1	0	19	51					T	18847986	A	T	18847986	3	4	366	1	0	0	0	0	1	0	0	0	12044	188	7	5	523	5	PLCZ1	12	18847986	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	10174244	18847986	115003909	32	34062											
LRP1	4035	broad.mit.edu	37	chr12	57586737	57586737	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggggccgaatcctccaggaTgacctcacctgccgaggtga	14	13	1	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:57586737T>A	ENST00000243077.3	+	45	8005	c.7539T>A	c.(7537-7539)gaT>gaA	p.D2513E	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2513	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTCCAGGATGACCTCACCT	0.642																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7537-7539)gaT>gaA		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						71	58	62					12																	57586737		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57586737T>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7539T>A	12.37:g.57586737T>A	ENSP00000243077:p.Asp2513Glu						p.D2513E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	45	8005	+			2513			EGF-like 10.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7539T>A	CCDS8932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.13|10.13	1.264812|1.264812	0.23136|0.23136	.|.	.|.	ENSG00000123384|ENSG00000123384	ENST00000243077|ENST00000554118	D|.	0.87887|.	-2.31|.	4.3|4.3	-2.73|-2.73	0.05950|0.05950	Epidermal growth factor-like (1);|.	0.346963|.	0.25219|.	N|.	0.032247|.	T|.	0.33147|.	0.0853|.	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.25676|.	-1.0125|.	10|.	0.02654|.	T|.	1|.	.|.	0.2772|0.2772	0.00240|0.00240	0.231:0.2211:0.2013:0.3466|0.231:0.2211:0.2013:0.3466	.|.	2513|.	Q07954|.	LRP1_HUMAN|.	E|R	2513|135	ENSP00000243077:D2513E|.	ENSP00000243077:D2513E|.	D|X	+|+	3|1	2|0	LRP1|LRP1	55873004|55873004	0.004000|0.004000	0.15560|0.15560	0.870000|0.870000	0.34147|0.34147	0.982000|0.982000	0.71751|0.71751	-1.332000|-1.332000	0.02670|0.02670	-0.391000|-0.391000	0.07763|0.07763	-0.505000|-0.505000	0.04504|0.04504	GAT|TGA		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		14	34	0	0	0	1	0	14	34					A	57586737	T	A	57586737	3	1	366	1	0	0	0	0	1	0	0	0	8951	1461	51	5	7717	5	LRP1	12	57586737	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08	38738751	57586737	76265158	33	34063											
HNRNPC	3183	broad.mit.edu	37	chr14	21702141	21702141	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcaatcattctgccaTcctctcctgctacagcagcc	7	17	3	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:21702141T>A	ENST00000320084.7	-	2	451	c.212A>T	c.(211-213)gAt>gTt	p.D71V	HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000430246.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	71	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATTCTGCCATCCTCTCCTGC	0.413																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(211-213)gAt>gTt		heterogeneous nuclear ribonucleoprotein C (C1/C2)							58	58	58					14																	21702141		2088	4247	6335	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21702141T>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"RNA binding motif (RRM) containing"	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.212A>T	14.37:g.21702141T>A	ENSP00000319690:p.Asp71Val					HNRNPC_ENST00000320084.7_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V	p.D71V			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	2	3163	-	all_cancers(95;0.00176)		71			RRM.		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.212A>T	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815078	0.90790	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000452166;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000556897;ENST00000420743;ENST00000445284;ENST00000554383;ENST00000555215;ENST00000555137;ENST00000554891;ENST00000556226;ENST00000555176	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.072824	0.51477	U	0.000090	T	0.67524	0.2902	M	0.78223	2.4	0.80722	D	1	P;B;D;D;P	0.56521	0.953;0.059;0.976;0.961;0.917	P;B;D;P;P	0.63793	0.864;0.148;0.918;0.811;0.713	T	0.72469	-0.4284	10	0.87932	D	0	.	14.4601	0.67442	0.0:0.0:0.0:1.0	.	71;71;71;71;71	B4DY08;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;HNRPC_HUMAN;.	V	71	ENSP00000338095:D71V;ENSP00000319690:D71V;ENSP00000404559:D71V;ENSP00000450725:D71V;ENSP00000451187:D71V;ENSP00000451291:D71V;ENSP00000442816:D71V;ENSP00000450548:D71V;ENSP00000451708:D71V;ENSP00000450790:D71V;ENSP00000450629:D71V;ENSP00000452214:D71V;ENSP00000452276:D71V;ENSP00000450544:D71V;ENSP00000451176:D71V;ENSP00000404848:D71V;ENSP00000452021:D71V;ENSP00000452213:D71V;ENSP00000452185:D71V;ENSP00000450467:D71V;ENSP00000451292:D71V;ENSP00000452573:D71V	ENSP00000319690:D71V	D	-	2	0	HNRNPC	20771981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.975000	0.88055	2.066000	0.61787	0.533000	0.62120	GAT		0.413	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			39	42	0	0	0	1	0	39	42					A	21702141	T	A	21702141	3	1	366	1	0	0	0	0	1	0	0	0	7262	1435	50	5	736	5	HNRNPC	14	21702141	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		21702141	85647399	34	34064											
C14orf73	91828	broad.mit.edu	37	chr14	103571146	103571146	+	Frame_Shift_Del	DEL	C	C	-													gccaccaccctgcgaatctgCacgcgggcgctcggcctctt							TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:103571146delC	ENST00000380069.3	+	5	1432	c.1356delC	c.(1354-1356)tgcfs	p.C452fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	452					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGCGAATCTGCACGCGGGCGC	0.721																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1354-1356)tgfs		exocyst complex component 3-like 4							5	5	5					14																	103571146		2074	4079	6153	SO:0001589	frameshift_variant	91828							g.chr14:103571146delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1356delC	14.37:g.103571146delC	ENSP00000369409:p.Cys452fs						p.C452fs	NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN			5	1432	+			452					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.1356delC	CCDS32163.1																																																																																				0.721	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		2	4						2	4	---	---	---	---	-	103571146	C	-	103571146	7	5	366	1	0	1	0	1	0	0	0	0	1779	718	25	0	1374	0	C14orf73	14	103571146	Frame_Shift_Del	DEL	C	TCGA-P5-A72W-01A-11D-A32B-08	81869005	103571146	3778394	35	34065											
ATP10A	57194	broad.mit.edu	37	chr15	25932867	25932867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgtttttgtagaagaAgtacagcaccatgttggcaa	10	6	0	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr15:25932867A>G	ENST00000356865.6	-	16	3385	c.3274T>C	c.(3274-3276)Ttc>Ctc	p.F1092L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1092					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)		TTGTAGAAGAAGTACAGCACC	0.498																																						ENST00000356865.6																			0				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						c.(3274-3276)Ttc>Ctc		ATPase, class V, type 10A							153	144	147					15																	25932867		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25932867A>G	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.3274T>C	15.37:g.25932867A>G	ENSP00000349325:p.Phe1092Leu						p.F1092L	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	16	3385	-		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)	1092					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3274T>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.793721	0.90453	.	.	ENSG00000206190	ENST00000356865;ENST00000555756	T;T	0.71579	0.47;-0.58	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.90650	3.135	0.80722	D	1	D	0.59357	0.985	P	0.60012	0.867	D	0.88527	0.3100	10	0.72032	D	0.01	-41.4459	15.6637	0.77209	1.0:0.0:0.0:0.0	.	1092	O60312	AT10A_HUMAN	L	1092;121	ENSP00000349325:F1092L;ENSP00000451615:F121L	ENSP00000349325:F1092L	F	-	1	0	ATP10A	23483960	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.029000	0.93718	2.095000	0.63458	0.533000	0.62120	TTC		0.498	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		29	56	0	0	0	1	0	29	56					G	25932867	A	G	25932867	3	3	366	1	0	0	0	0	1	0	0	0	1116	72	3	3	1249	3	ATP10A	15	25932867	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		25932867	76598525	36	34066											
DPEP3	64180	broad.mit.edu	37	chr16	68010039	68010039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtttccacgaaggAcaccttgaagctcttcctcg	10	13	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr16:68010039A>G	ENST00000268793.4	-	9	1635	c.1262T>C	c.(1261-1263)gTc>gCc	p.V421A	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	396					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCACGAAGGACACCTTGAAG	0.557																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1261-1263)gTc>gCc		dipeptidase 3							176	171	173					16																	68010039		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010039A>G	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1262T>C	16.37:g.68010039A>G	ENSP00000268793:p.Val421Ala						p.V421A	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	9	1635	-		Ovarian(137;0.192)	396					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1262T>C	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509201	0.64410	.	.	ENSG00000141096	ENST00000268793	T	0.26373	1.74	4.76	4.76	0.60689	.	0.067298	0.64402	D	0.000016	T	0.24353	0.0590	M	0.63169	1.94	0.44162	D	0.996969	B	0.33477	0.413	B	0.32393	0.145	T	0.04495	-1.0947	10	0.36615	T	0.2	-2.4668	8.369	0.32404	0.9102:0.0:0.0898:0.0	.	396	Q9H4B8	DPEP3_HUMAN	A	421	ENSP00000268793:V421A	ENSP00000268793:V421A	V	-	2	0	DPEP3	66567540	0.183000	0.23186	1.000000	0.80357	0.986000	0.74619	1.799000	0.38824	2.117000	0.64856	0.533000	0.62120	GTC		0.557	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		50	89	0	0	0	1	0	50	89					G	68010039	A	G	68010039	3	3	366	1	0	0	0	0	1	0	0	0	4715	275	10	3	287	3	DPEP3	16	68010039	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		68010039	22344714	37	34067											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	12	8	0	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	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)	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)	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	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							132	103	113					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>A	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	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)				TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		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).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	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		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	3	1	0	5.26018e-13	1	5.36332e-13	20	3					A	7577568	C	A	7577568	3	1	366	1	0	0	0	0	1	0	0	0	16378	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		7577568	73617642	38	34068											
C17orf101	79701	broad.mit.edu	37	chr17	80361821	80361821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcgctcaccttgtccaCgtgcgcatgccagtactcgt	12	15	1	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:80361821C>T	ENST00000313056.5	-	7	842	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	OGFOD3_ENST00000329197.5_Missense_Mutation_p.V231M|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	231	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)										ACCTTGTCCACGTGCGCATGC	0.672																																						ENST00000313056.5																			0											c.(691-693)Gtg>Atg		2-oxoglutarate and iron-dependent oxygenase domain containing 3							77	58	64					17																	80361821		2203	4299	6502	SO:0001583	missense	79701							g.chr17:80361821C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.691G>A	17.37:g.80361821C>T	ENSP00000320116:p.Val231Met					OGFOD3_ENST00000329197.5_Missense_Mutation_p.V231M	p.V231M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					7	842	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.691G>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563524	0.65651	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.61274	0.12;0.7	5.32	4.26	0.50523	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.126603	0.49916	D	0.000122	T	0.69771	0.3148	M	0.80847	2.515	0.30718	N	0.74854	D;D	0.76494	0.994;0.999	P;P	0.61132	0.845;0.884	T	0.71941	-0.4440	10	0.66056	D	0.02	-28.9181	7.2883	0.26352	0.0:0.7742:0.0:0.2258	.	231;231	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	M	231	ENSP00000320116:V231M;ENSP00000330075:V231M	ENSP00000320116:V231M	V	-	1	0	C17orf101	77955110	1.000000	0.71417	0.991000	0.47740	0.755000	0.42902	2.397000	0.44477	2.482000	0.83794	0.655000	0.94253	GTG		0.672	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		3	6	0	0	0	1	0	3	6					T	80361821	C	T	80361821	3	4	366	1	0	0	0	0	1	0	0	0	1848	536	19	1	457	1	C17orf101	17	80361821	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	72784253	80361821	833389	39	34069											
APOE	348	broad.mit.edu	37	chr19	45411116	45411116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgctgggaactggcacTgggtcgcttttgggattacc	14	11	0	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:45411116T>G	ENST00000252486.4	+	3	254	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	48					aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	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)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAACTGGCACTGGGTCGCTTT	0.652																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(142-144)cTg>cGg		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						43	42	42					19																	45411116		2203	4300	6503	SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45411116T>G	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.143T>G	19.37:g.45411116T>G	ENSP00000252486:p.Leu48Arg						p.L48R	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	254	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	48					B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.143T>G	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722594	0.48728	.	.	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81330	-1.48;-1.48;-1.48	4.85	4.85	0.62838	Apolipoprotein/apolipophorin (1);	0.472534	0.17562	N	0.169795	D	0.87842	0.6279	M	0.81802	2.56	0.36580	D	0.873501	D	0.69078	0.997	P	0.61592	0.891	D	0.90886	0.4757	10	0.72032	D	0.01	-11.6878	11.1147	0.48254	0.0:0.0:0.0:1.0	.	48	P02649	APOE_HUMAN	R	48;48;93;48	ENSP00000252486:L48R;ENSP00000413135:L48R;ENSP00000410423:L48R	ENSP00000252486:L48R	L	+	2	0	APOE	50102956	0.923000	0.31300	0.045000	0.18777	0.051000	0.14879	3.688000	0.54699	1.952000	0.56665	0.459000	0.35465	CTG		0.652	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		11	16	0	0	0	1	0	11	16					G	45411116	T	G	45411116	3	3	366	1	0	0	0	0	1	0	0	0	802	1580	55	5	149	5	APOE	19	45411116	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		45411116	13717867	40	34070											
PLCB4	5332	broad.mit.edu	37	chr20	9400537	9400537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttgatggtgttattgCagccacttgctcagtgcagg	12	9	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:9400537C>G	ENST00000378493.1	+	22	2114	c.2099C>G	c.(2098-2100)gCa>gGa	p.A700G	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G|PLCB4_ENST00000378501.2_Missense_Mutation_p.A700G|PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	700	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTGTTATTGCAGCCACTTGC	0.423																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2098-2100)gCa>gGa		phospholipase C, beta 4							151	141	145					20																	9400537		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9400537C>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2099C>G	20.37:g.9400537C>G	ENSP00000367754:p.Ala700Gly					PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000378493.1_Missense_Mutation_p.A700G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G	p.A700G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			22	2114	+			700			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2099C>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927194	0.92389	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.25749	1.97;1.96;1.97;1.97;1.97;1.78	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.048917	0.85682	D	0.000000	T	0.54886	0.1886	M	0.79614	2.46	0.80722	D	1	D;B;P;D	0.89917	0.999;0.263;0.917;1.0	D;B;D;D	0.79784	0.992;0.228;0.941;0.993	T	0.56703	-0.7935	10	0.59425	D	0.04	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	712;547;700;700	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	700;712;700;700;700;548	ENSP00000334105:A700G;ENSP00000367734:A712G;ENSP00000278655:A700G;ENSP00000367754:A700G;ENSP00000367762:A700G;ENSP00000390616:A548G	ENSP00000278655:A700G	A	+	2	0	PLCB4	9348537	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.752000	0.85141	2.678000	0.91216	0.563000	0.77884	GCA		0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			13	61	0	0	0	1	0	13	61					G	9400537	C	G	9400537	3	3	366	1	0	0	0	0	1	0	0	0	12030	710	25	4	2225	4	PLCB4	20	9400537	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		9400537	53624983	41	34071											
PROCR	10544	broad.mit.edu	37	chr20	33762688	33762688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgcgcacgcagagtgGcctgcagtcctacctgctcc	13	16	0	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33762688G>A	ENST00000216968.4	+	2	336	c.254G>A	c.(253-255)gGc>gAc	p.G85D	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	85					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)	ACGCAGAGTGGCCTGCAGTCC	0.677																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(253-255)gGc>gAc		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						43	32	36					20																	33762688		2202	4300	6502	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33762688G>A	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.254G>A	20.37:g.33762688G>A	ENSP00000216968:p.Gly85Asp					EDEM2_ENST00000540582.1_Intron	p.G85D	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		2	336	+			85					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.254G>A	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	g	7.091	0.572126	0.13623	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82167	-1.58	5.22	-2.74	0.05932	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	2.363320	0.01131	N	0.005982	T	0.67496	0.2899	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.51426	-0.8707	10	0.11794	T	0.64	-5.112	1.5437	0.02560	0.3985:0.1355:0.3277:0.1384	.	85	Q9UNN8	EPCR_HUMAN	D	85	ENSP00000216968:G85D	ENSP00000216968:G85D	G	+	2	0	PROCR	33226349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.493000	0.02298	-0.249000	0.09569	-1.017000	0.02453	GGC		0.677	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			14	13	0	0	0	1	0	14	13					A	33762688	G	A	33762688	3	1	366	1	0	0	0	0	1	0	0	0	12547	1203	42	2	260	2	PROCR	20	33762688	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	24362151	33762688	29262832	42	34072											
ZNF831	128611	broad.mit.edu	37	chr20	57768516	57768516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccagcaggggctcaggGgaggacaagctcccctcaga	15	13	2	1	rs368710582		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:57768516G>A	ENST00000371030.2	+	1	2442	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	814							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)					GGGGCTCAGGGGAGGACAAGC	0.642																																						ENST00000371030.2																			0				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						c.(2440-2442)ggG>ggA		zinc finger protein 831							30	39	36					20																	57768516		1993	4159	6152	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768516G>A	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.2442G>A	20.37:g.57768516G>A							p.G814G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2442	+	all_lung(29;0.0085)		814					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2442G>A	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	30	0	0	0	1	0	4	30					A	57768516	G	A	57768516	2	1	366	1	0	0	0	0	0	0	0	1	18182	1219	43	2		2	ZNF831	20	57768516	Silent	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	24005828	57768516	5257004	43	34073											
DEPDC5	9681	broad.mit.edu	37	chr22	32266690	32266690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggaactcccagaacataGgagaacagggctactcctcc	10	12	0	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:32266690G>A	ENST00000382112.3	+	33	3488	c.3418G>A	c.(3418-3420)Gga>Aga	p.G1140R	DEPDC5_ENST00000400248.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1149R	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1149					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAGAACATAGGAGAACAGGG	0.532																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3445-3447)Gga>Aga		DEP domain containing 5							95	97	96					22																	32266690		1987	4181	6168	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32266690G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3418G>A	22.37:g.32266690G>A	ENSP00000371546:p.Gly1140Arg					DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000400248.1_Missense_Mutation_p.G1118R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1140R	p.G1149R			O75140	DEPD5_HUMAN			34	3587	+			1118					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3445G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.87|15.87	2.962100|2.962100	0.53400|0.53400	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T;T;T|.	0.30714|.	1.58;2.0;2.0;1.96;1.52;1.98;1.96;2.0|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.373530|.	0.25427|.	N|.	0.030743|.	T|T	0.42154|0.42154	0.1190|0.1190	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D;B;B;P;B;B;B|.	0.59357|.	0.985;0.047;0.257;0.685;0.078;0.047;0.019|.	P;B;B;B;B;B;B|.	0.61477|.	0.889;0.034;0.143;0.296;0.054;0.05;0.017|.	T|T	0.23332|0.23332	-1.0191|-1.0191	10|5	0.44086|.	T|.	0.13|.	.|.	9.9812|9.9812	0.41815|0.41815	0.094:0.0:0.906:0.0|0.094:0.0:0.906:0.0	.|.	470;1149;1049;535;1127;1140;1118|.	B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;.;DEPD5_HUMAN|.	R|K	1049;1127;1118;1049;1149;1071;1140;1149;1118|524	ENSP00000440210:G1049R;ENSP00000266091:G1127R;ENSP00000383108:G1118R;ENSP00000383105:G1149R;ENSP00000371539:G1071R;ENSP00000371546:G1140R;ENSP00000371545:G1149R;ENSP00000383107:G1118R|.	ENSP00000266091:G1127R|.	G|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30596690|30596690	0.999000|0.999000	0.42202|0.42202	0.950000|0.950000	0.38849|0.38849	0.997000|0.997000	0.91878|0.91878	3.614000|3.614000	0.54160|0.54160	2.514000|2.514000	0.84764|0.84764	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.532	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		10	28	0	0	0	1	0	10	28					A	32266690	G	A	32266690	3	1	366	1	0	0	0	0	1	0	0	0	4442	1001	35	2	3566	2	DEPDC5	22	32266690	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		32266690	19037876	44	34074											
PICK1	9463	broad.mit.edu	37	chr22	38455269	38455269	+	Frame_Shift_Del	DEL	A	A	-													cgactgtgcctgggaaggtgAccctgcagaaggatgctcag							TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:38455269delA	ENST00000404072.3	+	3	417	c.70delA	c.(70-72)accfs	p.T24fs	PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	24	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGGGAAGGTGACCCTGCAGAA	0.567																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(70-72)ccfs		protein interacting with PRKCA 1							90	63	72					22																	38455269		2202	4299	6501	SO:0001589	frameshift_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38455269delA	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.70delA	22.37:g.38455269delA	ENSP00000385205:p.Thr24fs					PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs|RP5-1039K5.13_ENST00000445483.1_RNA	p.T24fs	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			3	417	+	Melanoma(58;0.045)		24			PDZ.		B3KS52|O95906	Frame_Shift_Del	DEL	ENST00000404072.3	37	c.70delA	CCDS13965.1																																																																																				0.567	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		2	4						2	4	---	---	---	---	-	38455269	A	-	38455269	7	5	366	1	0	1	0	1	0	0	0	0	11881	275	10	0	76	0	PICK1	22	38455269	Frame_Shift_Del	DEL	A	TCGA-P5-A72W-01A-11D-A32B-08	6188579	38455269	12849297	45	34075											
ATRX	546	broad.mit.edu	37	chrX	76890125	76890125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatacagtgggcaagaatgCatcctgaacctggagatttc	10	10	0	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chrX:76890125C>T	ENST00000373344.5	-	17	4983	c.4769G>A	c.(4768-4770)tGc>tAc	p.C1590Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1590	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						GGCAAGAATGCATCCTGAACC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4768-4770)tGc>tAc		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						179	174	176					X																	76890125		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890125C>T	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.4769G>A	X.37:g.76890125C>T	ENSP00000362441:p.Cys1590Tyr					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	p.C1590Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4983	-			1590			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4769G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622517	0.66787	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93189	-3.18;-3.18	5.77	5.77	0.91146	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99293	1.0899	10	0.87932	D	0	-4.0056	18.913	0.92493	0.0:1.0:0.0:0.0	.	1552;1590	P46100-4;P46100	.;ATRX_HUMAN	Y	1590;1552	ENSP00000362441:C1590Y;ENSP00000378967:C1552Y	ENSP00000362441:C1590Y	C	-	2	0	ATRX	76776781	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	TGC		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		42	3	0	0	0	1	0	42	3					T	76890125	C	T	76890125	3	4	366	1	0	0	0	0	1	0	0	0	1208	710	25	2	2785	2	ATRX	23	76890125	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		76890125	78380435	46	34076											
RPTN	126638	broad.mit.edu	37	chr1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cataatgatagctctggcctTgtctgtctgtctgaccgtag							TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	960						7	960	---	---	---	---	-	152127884	TGTC	-	152127881	7	5	367	1	0	1	0	1	0	0	0	0	13664	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-P5-A72X-01A-11D-A32B-08		152127881	97122740	1	34077											
HHIPL2	79802	broad.mit.edu	37	chr1	222717332	222717332	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaatagtccttgtcaggaAggtccaggaggtggcagaag	15	7	1	1			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:222717332A>T	ENST00000343410.6	-	2	579	c.521T>A	c.(520-522)cTt>cAt	p.L174H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	174					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)		CTTGTCAGGAAGGTCCAGGAG	0.577																																						ENST00000343410.6																			0				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						c.(520-522)cTt>cAt		HHIP-like 2							70	80	76					1																	222717332		2200	4297	6497	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717332A>T	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.521T>A	1.37:g.222717332A>T	ENSP00000342118:p.Leu174His						p.L174H	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	579	-			174					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.521T>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237338	0.58886	.	.	ENSG00000143512	ENST00000343410	T	0.37058	1.22	5.59	5.59	0.84812	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.88570	2.965	0.58432	D	0.999996	D	0.89917	1.0	D	0.73708	0.981	T	0.73557	-0.3945	10	0.72032	D	0.01	-13.4175	15.4209	0.75009	1.0:0.0:0.0:0.0	.	174	Q6UWX4	HIPL2_HUMAN	H	174	ENSP00000342118:L174H	ENSP00000342118:L174H	L	-	2	0	HHIPL2	220783955	1.000000	0.71417	0.794000	0.32065	0.151000	0.21798	7.028000	0.76470	2.107000	0.64212	0.482000	0.46254	CTT		0.577	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		4	71	0	0	0	1	0	4	71					T	222717332	A	T	222717332	3	4	367	1	0	0	0	0	1	0	0	0	7094	72	3	5	1685	5	HHIPL2	1	222717332	Missense_Mutation	SNP	A	TCGA-P5-A72X-01A-11D-A32B-08	70589451	222717332	26533289	2	34078											
NUP133	55746	broad.mit.edu	37	chr1	229593964	229593964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctaatgcagccaatTtactcaagccaagaagggtt	9	9	1	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:229593964T>C	ENST00000261396.3	-	21	3015	c.2924A>G	c.(2923-2925)aAa>aGa	p.K975R	NUP133_ENST00000537506.1_Missense_Mutation_p.K959R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	975					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCAGCCAATTTACTCAAGCC	0.368																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(2923-2925)aAa>aGa		nucleoporin 133kDa							104	96	99					1																	229593964		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229593964T>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2924A>G	1.37:g.229593964T>C	ENSP00000261396:p.Lys975Arg					NUP133_ENST00000366679.1_Missense_Mutation_p.K904R|NUP133_ENST00000537506.1_Missense_Mutation_p.K959R	p.K975R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			21	3015	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	975					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.2924A>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731608	0.89390	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.54071	0.59;1.2;0.61	5.67	5.67	0.87782	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.042305	0.85682	D	0.000000	T	0.68137	0.2968	L	0.58302	1.8	0.80722	D	1	D	0.67145	0.996	D	0.66602	0.945	T	0.70795	-0.4775	10	0.66056	D	0.02	-4.8838	15.9033	0.79400	0.0:0.0:0.0:1.0	.	975	Q8WUM0	NU133_HUMAN	R	904;975;904;959	ENSP00000261396:K975R;ENSP00000355640:K904R;ENSP00000443496:K959R	ENSP00000261396:K975R	K	-	2	0	NUP133	227660587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.426000	0.80270	2.169000	0.68431	0.383000	0.25322	AAA		0.368	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		21	40	0	0	0	1	0	21	40					C	229593964	T	C	229593964	3	2	367	1	0	0	0	0	1	0	0	0	10754	1841	64	3	570	3	NUP133	1	229593964	Missense_Mutation	SNP	T	TCGA-P5-A72X-01A-11D-A32B-08	6876632	229593964	19656657	3	34079											
ETAA1	54465	broad.mit.edu	37	chr2	67631709	67631709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagaaaggacagtaagaCatcagaaagtatatgtgaga	10	4	1	4			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr2:67631709C>T	ENST00000272342.5	+	5	2025	c.1895C>T	c.(1894-1896)aCa>aTa	p.T632I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	632						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTAAGACATCAGAAAGT	0.363																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1894-1896)aCa>aTa		Ewing tumor-associated antigen 1							105	111	109					2																	67631709		2201	4298	6499	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67631709C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1895C>T	2.37:g.67631709C>T	ENSP00000272342:p.Thr632Ile					ETAA1_ENST00000462772.1_Intron	p.T632I	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2025	+			632					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.1895C>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	7.736	0.700329	0.15106	.	.	ENSG00000143971	ENST00000272342	T	0.18960	2.18	3.09	-4.54	0.03452	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.34241	0.444	B	0.31547	0.132	T	0.26780	-1.0093	9	0.45353	T	0.12	.	2.2046	0.03933	0.4167:0.1544:0.3191:0.1098	.	632	Q9NY74	ETAA1_HUMAN	I	632	ENSP00000272342:T632I	ENSP00000272342:T632I	T	+	2	0	ETAA1	67485213	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	-0.330000	0.07925	-0.451000	0.07097	0.645000	0.84053	ACA		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		44	125	0	0	0	1	0	44	125					T	67631709	C	T	67631709	3	4	367	1	0	0	0	0	1	0	0	0	5267	478	17	2	1913	2	ETAA1	2	67631709	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		67631709	175567664	4	34080											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	38	0	0	0	1	0	20	38					T	209113112	C	T	209113112	3	4	367	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08	141481403	209113112	34086261	5	34081											
HYAL1	3373	broad.mit.edu	37	chr3	50339946	50339946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcccgtgagcgctgccGgtaaatgtccttggtgtccc	13	13	0	1			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:50339946G>A	ENST00000266031.4	-	1	1057	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R148W|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395143.2_Missense_Mutation_p.R148W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R148W|HYAL1_ENST00000457214.2_5'UTR			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	148					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGCGCTGCCGGTAAATGTCC	0.642																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(442-444)Cgg>Tgg		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						142	147	145					3																	50339946		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50339946G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.442C>T	3.37:g.50339946G>A	ENSP00000266031:p.Arg148Trp					HYAL1_ENST00000395143.2_Missense_Mutation_p.R148W|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.R148W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R148W	p.R148W			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	1057	-			148					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.442C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591850	0.66219	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.72	3.86	0.44501	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.296040	0.39407	N	0.001376	T	0.58264	0.2110	M	0.85197	2.74	0.80722	D	1	D;B;D	0.89917	1.0;0.32;1.0	D;B;D	0.72982	0.964;0.081;0.979	T	0.64462	-0.6402	10	0.72032	D	0.01	-34.6476	13.6406	0.62249	0.0:0.0:0.6982:0.3018	.	148;148;148	Q12794-7;Q12794-2;Q12794	.;.;HYAL1_HUMAN	W	148	ENSP00000378576:R148W;ENSP00000266031:R148W;ENSP00000346068:R148W;ENSP00000378575:R148W	ENSP00000266031:R148W	R	-	1	2	HYAL1	50314950	0.987000	0.35691	0.990000	0.47175	0.933000	0.57130	2.050000	0.41297	0.701000	0.31803	-0.397000	0.06425	CGG		0.642	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			4	170	0	0	0	1	0	4	170					A	50339946	G	A	50339946	3	1	367	1	0	0	0	0	1	0	0	0	7463	1115	39	1	877	1	HYAL1	3	50339946	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		50339946	147682484	6	34082											
DNAH1	25981	broad.mit.edu	37	chr3	52426901	52426901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgacctgacgcgcatggAgtacatacccgtggccatcc	10	15	0	1			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:52426901A>G	ENST00000420323.2	+	65	10595	c.10334A>G	c.(10333-10335)gAg>gGg	p.E3445G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3510	AAA 5. {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)		ACGCGCATGGAGTACATACCC	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10333-10335)gAg>gGg		dynein, axonemal, heavy chain 1							179	194	189					3																	52426901		2136	4227	6363	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52426901A>G	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.10334A>G	3.37:g.52426901A>G	ENSP00000401514:p.Glu3445Gly						p.E3445G	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		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)	65	10595	+			3510			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10334A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720676	0.30503	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	D	0.86694	-2.16	4.5	4.5	0.54988	.	0.092847	0.41294	D	0.000903	T	0.78489	0.4291	N	0.21617	0.685	0.38058	D	0.935981	B;P	0.46142	0.002;0.873	B;P	0.44811	0.005;0.461	T	0.78099	-0.2336	10	0.02654	T	1	.	13.9609	0.64177	1.0:0.0:0.0:0.0	.	3445;3510	C9JXH6;Q9P2D7-2	.;.	G	3445;198	ENSP00000401514:E3445G	ENSP00000273600:E198G	E	+	2	0	DNAH1	52401941	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.097000	0.64542	1.891000	0.54761	0.402000	0.26972	GAG		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	122	0	0	0	1	0	4	122					G	52426901	A	G	52426901	3	3	367	1	0	0	0	0	1	0	0	0	4597	304	11	3	10588	3	DNAH1	3	52426901	Missense_Mutation	SNP	A	TCGA-P5-A72X-01A-11D-A32B-08	2086955	52426901	145595529	7	34083											
LNX1	84708	broad.mit.edu	37	chr4	54364953	54364953	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgggatctactcgaTtgatcttgatgctggtaatt	9	7	3	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr4:54364953T>C	ENST00000263925.7	-	5	1147	c.833A>G	c.(832-834)aAt>aGt	p.N278S	LNX1-AS1_ENST00000502373.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.N182S	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	278	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			ATCTACTCGATTGATCTTGAT	0.448																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(544-546)aAt>aGt		ligand of numb-protein X 1, E3 ubiquitin protein ligase							106	92	97					4																	54364953		2203	4300	6503	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54364953T>C	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.833A>G	4.37:g.54364953T>C	ENSP00000263925:p.Asn278Ser					LNX1_ENST00000263925.7_Missense_Mutation_p.N278S|LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron	p.N182S	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		4	796	-	all_neural(26;0.153)		278					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.545A>G	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.283703	0.00251	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.26067	1.76;1.76	4.49	0.206	0.15208	PDZ/DHR/GLGF (3);	0.212247	0.47852	D	0.000215	T	0.10766	0.0263	N	0.15975	0.35	0.26726	N	0.970672	B;B	0.17038	0.02;0.001	B;B	0.19666	0.026;0.004	T	0.30416	-0.9979	10	0.12766	T	0.61	.	5.5022	0.16834	0.0:0.2037:0.2607:0.5356	.	278;182	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	S	182;116;278	ENSP00000302879:N182S;ENSP00000263925:N278S	ENSP00000263925:N278S	N	-	2	0	LNX1	54059710	0.963000	0.33076	0.662000	0.29724	0.045000	0.14185	0.345000	0.19979	0.303000	0.22785	-0.441000	0.05720	AAT		0.448	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			26	38	0	0	0	1	0	26	38					C	54364953	T	C	54364953	3	2	367	1	0	0	0	0	1	0	0	0	8865	1493	52	3	1381	3	LNX1	4	54364953	Missense_Mutation	SNP	T	TCGA-P5-A72X-01A-11D-A32B-08		54364953	136789323	8	34084											
HAS2	3037	broad.mit.edu	37	chr8	122626810	122626810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttccaaattttaccccGgtagaagagctggattactg	9	8	0	2	rs148429340	byFrequency	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr8:122626810G>A	ENST00000303924.4	-	4	1735	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	400					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)			ATTTTACCCCGGTAGAAGAGC	0.408																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1198-1200)Cgg>Tgg		hyaluronan synthase 2							123	119	120					8																	122626810		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626810G>A	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.1198C>T	8.37:g.122626810G>A	ENSP00000306991:p.Arg400Trp						p.R400W	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1735	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		400					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1198C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090178	0.55968	.	.	ENSG00000170961	ENST00000303924	T	0.59906	0.23	6.04	1.8	0.24995	.	0.096875	0.64402	D	0.000001	T	0.67702	0.2921	L	0.53249	1.67	0.50813	D	0.999897	D	0.67145	0.996	P	0.58970	0.849	T	0.71111	-0.4687	10	0.72032	D	0.01	-10.3761	17.2191	0.86952	0.0:0.0:0.3742:0.6258	.	400	Q92819	HAS2_HUMAN	W	400	ENSP00000306991:R400W	ENSP00000306991:R400W	R	-	1	2	HAS2	122695991	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	0.970000	0.29383	0.011000	0.14865	0.561000	0.74099	CGG		0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		4	208	0	0	0	1	0	4	208					A	122626810	G	A	122626810	3	1	367	1	0	0	0	0	1	0	0	0	6962	1115	39	1	464	1	HAS2	8	122626810	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		122626810	23737212	9	34085											
TNC	3371	broad.mit.edu	37	chr9	117822018	117822018	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggaagtacctgtggaggCctcagcagagagtactggtg	16	7	1	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr9:117822018C>G	ENST00000350763.4	-	14	4708	c.4297G>C	c.(4297-4299)Gcc>Ccc	p.A1433P	TNC_ENST00000341037.4_Missense_Mutation_p.A1342P|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1433P|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1433	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGTGGAGGCCTCAGCAGAG	0.552																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4297-4299)Gcc>Ccc		tenascin C							163	176	171					9																	117822018		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117822018C>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4297G>C	9.37:g.117822018C>G	ENSP00000265131:p.Ala1433Pro					TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1433P|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.A1342P|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron	p.A1433P	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			14	4708	-			1433			Fibronectin type-III 9.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4297G>C	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916643	0.52546	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.05199	3.48;3.48;3.48	5.69	4.79	0.61399	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.146392	0.42682	D	0.000677	T	0.22044	0.0531	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72982	0.979;0.945	T	0.00664	-1.1620	10	0.66056	D	0.02	.	6.9175	0.24367	0.1433:0.7003:0.0:0.1565	.	1433;1433	E9PC84;P24821	.;TENA_HUMAN	P	1433;1342;1433	ENSP00000265131:A1433P;ENSP00000339553:A1342P;ENSP00000411406:A1433P	ENSP00000339553:A1342P	A	-	1	0	TNC	116861839	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	0.684000	0.25364	1.396000	0.46663	0.563000	0.77884	GCC		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		76	174	0	0	0	1	0	76	174					G	117822018	C	G	117822018	3	3	367	1	0	0	0	0	1	0	0	0	16267	739	26	4	2368	4	TNC	9	117822018	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		117822018	23391413	10	34086											
CWF19L2	143884	broad.mit.edu	37	chr11	107312278	107312278	+	Frame_Shift_Del	DEL	T	T	-													ctattttcctcatagtttccTtttcagctttgagtgatgat							TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr11:107312278delT	ENST00000282251.5	-	5	548	c.521delA	c.(520-522)aagfs	p.K174fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K174fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	174							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)		CATAGTTTCCTTTTCAGCTTT	0.318																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(520-522)agfs		CWF19-like 2, cell cycle control (S. pombe)							90	73	79					11																	107312278		2181	4270	6451	SO:0001589	frameshift_variant	143884						catalytic activity	g.chr11:107312278delT	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.521delA	11.37:g.107312278delT	ENSP00000282251:p.Lys174fs					CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K174fs	p.K174fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	5	548	-		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)	174					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Frame_Shift_Del	DEL	ENST00000282251.5	37	c.521delA	CCDS8336.2																																																																																				0.318	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		2	4						2	4	---	---	---	---	-	107312278	T	-	107312278	7	5	367	1	0	1	0	1	0	0	0	0	4072	1609	56	0	2219	0	CWF19L2	11	107312278	Frame_Shift_Del	DEL	T	TCGA-P5-A72X-01A-11D-A32B-08		107312278	27694238	11	34087											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-													gttgctgttgttgttgttgtTgctgctgctgctgctgcacc					rs112613609		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		8	125						8	125	---	---	---	---	-	45148708	TGC	-	45148706	7	5	367	1	0	1	0	1	0	0	0	0	16604	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-P5-A72X-01A-11D-A32B-08		45148706	70021172	12	34088											
SMTNL2	342527	broad.mit.edu	37	chr17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatgatggtgatgggccGcaagccggaccccatgtgtg	16	10	0	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582																																						ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(1315-1317)cGc>cAc		smoothelin-like 2							166	156	160					17																	4510712		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4510712G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1316G>A	17.37:g.4510712G>A	ENSP00000373964:p.Arg439His					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	p.R439H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	8	1383	+			439			CH.		Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.1316G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579375	0.46006	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.81908	-1.55;-1.55	5.18	3.18	0.36537	Calponin homology domain (5);	.	.	.	.	T	0.70046	0.3179	L	0.28115	0.83	0.36226	D	0.852296	P	0.38440	0.631	B	0.35312	0.2	T	0.72357	-0.4318	9	0.35671	T	0.21	-16.6464	9.2698	0.37664	0.1765:0.0:0.8235:0.0	.	439	Q2TAL5	SMTL2_HUMAN	H	295;439	ENSP00000345143:R295H;ENSP00000373964:R439H	ENSP00000345143:R295H	R	+	2	0	SMTNL2	4457461	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.347000	0.20014	1.331000	0.45412	-0.140000	0.14226	CGC		0.582	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		5	214	0	0	0	1	0	5	214					A	4510712	G	A	4510712	3	1	367	1	0	0	0	0	1	0	0	0	14816	1087	38	1	1346	1	SMTNL2	17	4510712	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		4510712	76684498	13	34089											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	14	8	0	4			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:7578280G>A	ENST00000269305.4	-	6	758	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000420246.2_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000455263.2_Missense_Mutation_p.P190L	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	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)	ATGCTGAGGAGGGGCCAGACC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(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						c.(568-570)cCt>cTt	Other conserved DNA damage response genes	tumor protein p53							89	80	83					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578280G>A	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.569C>T	17.37:g.7578280G>A	ENSP00000269305:p.Pro190Leu	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)				TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190L|TP53_ENST00000269305.4_Missense_Mutation_p.P190L	p.P190L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	701	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	190		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.569C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468425	0.43839	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68593	2.085	0.80722	D	1	D;P;D;P;P;P;D	0.89917	0.987;0.484;0.972;0.765;0.676;0.921;1.0	D;B;P;P;P;P;D	0.91635	0.916;0.306;0.708;0.605;0.533;0.774;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190L;ENSP00000352610:P190L;ENSP00000269305:P190L;ENSP00000398846:P190L;ENSP00000391127:P190L;ENSP00000391478:P190L;ENSP00000425104:P58L;ENSP00000423862:P97L	ENSP00000269305:P190L	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	25	0	0	0	1	0	24	25					A	7578280	G	A	7578280	3	1	367	1	0	0	0	0	1	0	0	0	16378	1000	35	2	725	2	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	3067568	7578280	73616930	14	34090											
MYOCD	93649	broad.mit.edu	37	chr17	12626238	12626238	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gactcgccgatgatctcaatGaaaaaattgctctacgacca	7	11	2	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:12626238G>A	ENST00000343344.4	+	5	328	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	AC005358.1_ENST00000609971.1_Missense_Mutation_p.E14K|MYOCD_ENST00000425538.1_Missense_Mutation_p.E110K|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	110					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTCAATGAAAAAATTGC	0.453																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(328-330)Gaa>Aaa		myocardin							135	140	138					17																	12626238		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626238G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.328G>A	17.37:g.12626238G>A	ENSP00000341835:p.Glu110Lys					MYOCD_ENST00000395988.1_Missense_Mutation_p.E14K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E110K	p.E110K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	528	+			110					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.328G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952127	0.73787	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.50277	0.75	5.46	4.49	0.54785	.	0.252266	0.41396	D	0.000893	T	0.36386	0.0965	L	0.38953	1.18	0.54753	D	0.999987	B;P;P	0.44241	0.42;0.791;0.829	B;B;B	0.35114	0.142;0.112;0.196	T	0.35325	-0.9793	10	0.56958	D	0.05	-29.0871	14.6173	0.68558	0.0:0.0:0.8529:0.1471	.	14;110;110	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	K	110;110;14	ENSP00000341835:E110K	ENSP00000341835:E110K	E	+	1	0	MYOCD	12566963	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.713000	0.84693	1.520000	0.48965	-0.181000	0.13052	GAA		0.453	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		5	189	0	0	0	1	0	5	189					A	12626238	G	A	12626238	3	1	367	1	0	0	0	0	1	0	0	0	10087	1291	45	2	346	2	MYOCD	17	12626238	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	5047958	12626238	68568972	15	34091											
PKN1	5585	broad.mit.edu	37	chr19	14581115	14581115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctacgagatgctggttggcGaggtgagaccccgcccctgt	14	12	1	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:14581115G>A	ENST00000242783.6	+	19	2599	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	PKN1_ENST00000342216.4_Missense_Mutation_p.E818K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	812	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			E -> G (in Ref. 3; BAG36611). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGGTTGGCGAGGTGAGACC	0.627																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2434-2436)Gag>Aag		protein kinase N1							104	116	112					19																	14581115		2203	4300	6503	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581115G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2434G>A	19.37:g.14581115G>A	ENSP00000242783:p.Glu812Lys					PKN1_ENST00000342216.4_Missense_Mutation_p.E818K	p.E812K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			19	2599	+			812	E -> G (in Ref. 3; BAG36611).		Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2434G>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793940	0.90453	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.64438	-0.1;-0.1	3.76	3.76	0.43208	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	U	0.000002	T	0.59542	0.2201	N	0.04959	-0.14	0.51233	D	0.999919	D;D	0.76494	0.999;0.999	D;D	0.79108	0.987;0.992	T	0.68754	-0.5325	10	0.66056	D	0.02	-11.4385	13.4218	0.61003	0.0:0.0:1.0:0.0	.	818;812	Q16512-2;Q16512	.;PKN1_HUMAN	K	812;818	ENSP00000242783:E812K;ENSP00000343325:E818K	ENSP00000242783:E812K	E	+	1	0	PKN1	14442115	1.000000	0.71417	0.954000	0.39281	0.566000	0.35808	9.392000	0.97252	2.097000	0.63578	0.484000	0.47621	GAG		0.627	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		11	28	0	0	0	1	0	11	28					A	14581115	G	A	14581115	3	1	367	1	0	0	0	0	1	0	0	0	11979	1059	37	1	2551	1	PKN1	19	14581115	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		14581115	44547868	16	34092											
CCDC9	26093	broad.mit.edu	37	chr19	47764023	47764023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgggggccgtggccGgaggggccggggccgaggtt	24	9	0	0			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:47764023G>A	ENST00000221922.6	+	5	611	c.389G>A	c.(388-390)cGg>cAg	p.R130Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	130	Gly-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGTGGCCGGAGGGGCCGG	0.706																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(388-390)cGg>cAg		coiled-coil domain containing 9							21	23	22					19																	47764023		2186	4274	6460	SO:0001583	missense	26093							g.chr19:47764023G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.389G>A	19.37:g.47764023G>A	ENSP00000221922:p.Arg130Gln						p.R130Q	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	5	611	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	130			Gly-rich.			Missense_Mutation	SNP	ENST00000221922.6	37	c.389G>A	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	N	14.72	2.618417	0.46736	.	.	ENSG00000105321	ENST00000221922	T	0.28454	1.61	3.32	2.26	0.28386	.	0.756329	0.11803	N	0.527930	T	0.24812	0.0602	L	0.57536	1.79	0.33405	D	0.577904	B	0.27117	0.168	B	0.14578	0.011	T	0.24190	-1.0167	10	0.29301	T	0.29	-10.3855	5.4654	0.16639	0.264:0.0:0.736:0.0	.	130	Q9Y3X0	CCDC9_HUMAN	Q	130	ENSP00000221922:R130Q	ENSP00000221922:R130Q	R	+	2	0	CCDC9	52455863	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.053000	0.57427	0.734000	0.32515	0.431000	0.28591	CGG		0.706	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		17	21	0	0	0	1	0	17	21					A	47764023	G	A	47764023	3	1	367	1	0	0	0	0	1	0	0	0	2867	1116	39	1	403	1	CCDC9	19	47764023	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	33182908	47764023	11364960	17	34093											
CSTF1	1477	broad.mit.edu	37	chr20	54972798	54972798	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcacgtgccttgctttccaCccaacagaacagatcctggc	8	15	1	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr20:54972798C>G	ENST00000217109.4	+	4	898	c.546C>G	c.(544-546)caC>caG	p.H182Q	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	182					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 processing (GO:0006396)|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)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGCTTTCCACCCAACAGAAC	0.408																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(544-546)caC>caG		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							106	106	106					20																	54972798		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54972798C>G		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.546C>G	20.37:g.54972798C>G	ENSP00000217109:p.His182Gln					CSTF1_ENST00000493039.1_3'UTR	p.H182Q	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		4	898	+			182					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.546C>G	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972286	0.74246	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000425890;ENST00000452950	T;T;T	0.61510	0.1;0.1;0.1	5.93	5.0	0.66597	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	0.74261	0.3693	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.76753	-0.2843	10	0.56958	D	0.05	-12.1684	13.0613	0.59008	0.0:0.8674:0.0:0.1326	.	182	Q05048	CSTF1_HUMAN	Q	182;182;169;182	ENSP00000387968:H182Q;ENSP00000217109:H182Q;ENSP00000409035:H182Q	ENSP00000217109:H182Q	H	+	3	2	CSTF1	54406205	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.584000	0.23864	1.539000	0.49286	0.655000	0.94253	CAC		0.408	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		3	95	0	0	0	1	0	3	95					G	54972798	C	G	54972798	3	3	367	1	0	0	0	0	1	0	0	0	3983	506	18	4	556	4	CSTF1	20	54972798	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		54972798	8052722	18	34094											
VSIG4	11326	broad.mit.edu	37	chrX	65252309	65252309	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaaagagggccgctcaCctttgaccacaaacttcaca	8	14	2	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:65252309C>A	ENST00000374737.4	-	3	803		c.e3+1		VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000455586.2_Splice_Site	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCGCTCACCTTTGACCAC	0.507																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e3+1		V-set and immunoglobulin domain containing 4							108	91	97					X																	65252309		2203	4300	6503	SO:0001630	splice_region_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252309C>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.694+1G>T	X.37:g.65252309C>A						VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Splice_Site		NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			3	821	-								Q6UXI4	Splice_Site	SNP	ENST00000374737.4	37		CCDS14383.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731026	0.30684	.	.	ENSG00000155659	ENST00000427538;ENST00000374737;ENST00000455586;ENST00000423830	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5133	0.50507	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VSIG4	65169034	1.000000	0.71417	0.989000	0.46669	0.408000	0.30992	2.861000	0.48380	1.746000	0.51805	0.594000	0.82650	.		0.507	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268	Intron	4	30	1	0	0.00909568	1	0.00909568	4	30					A	65252309	C	A	65252309	5	1	367	1	0	0	0	0	0	0	1	0	17222	521	18	4	532	4	VSIG4	23	65252309	Splice_Site	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		65252309	90018251	19	34095											
ATRX	546	broad.mit.edu	37	chrX	76855036	76855037	+	Frame_Shift_Del	DEL	CT	CT	-													atcttttttcccctttttccCttttttcttctttctaaaaa							TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:76855036_76855037delCT	ENST00000373344.5	-	25	6013_6014	c.5799_5800delAG	c.(5797-5802)aaagggfs	p.G1934fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1896fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1934	Poly-Lys.				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						CCCTTTTTCCCTTTTTTCTTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(5797-5802)aaggfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855036_76855037delCT	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.5799_5800delAG	X.37:g.76855036_76855037delCT	ENSP00000362441:p.Gly1934fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KG1895fs	p.KG1933fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6013_6014	-			1933			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5799_5800delAG	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		169	50						169	50	---	---	---	---	-	76855037	CT	-	76855036	7	5	367	1	0	1	0	1	0	0	0	0	1208	681	24	0	1722	0	ATRX	23	76855036	Frame_Shift_Del	DEL	CT	TCGA-P5-A72X-01A-11D-A32B-08	11602727	76855036	78415524	20	34096											
LCE3E	353145	broad.mit.edu	37	chr1	152538494	152538494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagttggacctctggcgcCggcatcggtggtggcgcctg	18	11	1	0	rs530968216	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:152538494C>T	ENST00000368789.1	-	2	246	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	64					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCTCTGGCGCCGGCATCGGTG	0.677													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15057	0.0		0.0	False		,,,				2504	0.0					ENST00000368789.1																			0				lung(6)|ovary(1)	7						c.(190-192)cGg>cAg		late cornified envelope 3E																																				SO:0001583	missense	353145				keratinization			g.chr1:152538494C>T		CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"Late cornified envelopes"	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.191G>A	1.37:g.152538494C>T	ENSP00000357778:p.Arg64Gln						p.R64Q	NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)	2	246	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		64					A2RRM6	Missense_Mutation	SNP	ENST00000368789.1	37	c.191G>A	CCDS1013.1	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985685	0.18889	.	.	ENSG00000185966	ENST00000368789	T	0.03920	3.76	3.82	3.82	0.43975	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.33333	D	0.568904	D	0.89917	1.0	D	0.64144	0.922	T	0.00970	-1.1496	8	0.87932	D	0	.	11.3716	0.49702	0.0:1.0:0.0:0.0	.	64	Q5T5B0	LCE3E_HUMAN	Q	64	ENSP00000357778:R64Q	ENSP00000357778:R64Q	R	-	2	0	LCE3E	150805118	0.000000	0.05858	0.940000	0.37924	0.060000	0.15804	0.651000	0.24873	2.099000	0.63709	0.557000	0.71058	CGG		0.677	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034513.1	NM_178435		8	77	0	0	0	1	0	8	77					T	152538494	C	T	152538494	3	4	368	1	0	0	0	0	1	0	0	0	8673	652	23	1	91	1	LCE3E	1	152538494	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		152538494	96712127	1	34097											
KDM5B	10765	broad.mit.edu	37	chr1	202718147	202718147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctgaacagttgaagCcactacaacatctaatacat	5	10	3	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:202718147C>T	ENST00000367265.3	-	14	3106	c.1942G>A	c.(1942-1944)Gct>Act	p.A648T	KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	648					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						ACAGTTGAAGCCACTACAACA	0.413																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1942-1944)Gct>Act		lysine (K)-specific demethylase 5B							128	118	121					1																	202718147		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202718147C>T	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.1942G>A	1.37:g.202718147C>T	ENSP00000356234:p.Ala648Thr					KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	p.A648T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			14	3106	-			648					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1942G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844034	0.97016	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	T;T;T	0.71579	-0.58;-0.58;-0.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.77486	2.375	0.80722	D	1	D;P	0.89917	1.0;0.947	D;P	0.91635	0.999;0.78	D	0.86218	0.1629	10	0.87932	D	0	-18.3605	20.089	0.97809	0.0:1.0:0.0:0.0	.	684;648	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	T	648;490;684;490;17	ENSP00000356234:A648T;ENSP00000356233:A684T;ENSP00000235790:A490T	ENSP00000235790:A490T	A	-	1	0	KDM5B	200984770	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.760000	0.85248	2.752000	0.94435	0.557000	0.71058	GCT		0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		36	51	0	0	0	1	0	36	51					T	202718147	C	T	202718147	3	4	368	1	0	0	0	0	1	0	0	0	8134	739	26	2	2748	2	KDM5B	1	202718147	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	50179653	202718147	46532474	2	34098											
PPM1B	5495	broad.mit.edu	37	chr2	44428625	44428625	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaggatctgctcttgAgctttcagtggaaaatgtta	9	6	4	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:44428625A>T	ENST00000282412.4	+	2	699	c.287A>T	c.(286-288)gAg>gTg	p.E96V	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000378551.2_Missense_Mutation_p.E96V|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	96					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCTCTTGAGCTTTCAGTG	0.408																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(286-288)gAg>gTg		protein phosphatase, Mg2+/Mn2+ dependent, 1B							94	95	95					2																	44428625		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428625A>T	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9276	protein-coding gene	gene with protein product	"protein phosphatase 2C, beta isoform"	603770	"protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.287A>T	2.37:g.44428625A>T	ENSP00000282412:p.Glu96Val					PPM1B_ENST00000282412.4_Missense_Mutation_p.E96V|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V	p.E96V	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			2	699	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	96					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.287A>T	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260655	0.59431	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	5.82	3.31	0.37934	Protein phosphatase 2C-like (5);	0.310256	0.39687	N	0.001293	T	0.08403	0.0209	N	0.10760	0.04	0.43494	D	0.995739	B;B;B;B;B	0.30973	0.007;0.001;0.302;0.0;0.172	B;B;B;B;B	0.42593	0.053;0.007;0.392;0.005;0.392	T	0.36383	-0.9750	10	0.49607	T	0.09	-10.7618	9.2259	0.37407	0.7491:0.1285:0.0:0.1224	.	96;96;96;96;96	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	V	96	ENSP00000390087:E96V;ENSP00000387341:E96V;ENSP00000387287:E96V;ENSP00000282412:E96V;ENSP00000367813:E96V;ENSP00000386982:E96V	ENSP00000282412:E96V	E	+	2	0	PPM1B	44282129	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	3.544000	0.53640	1.006000	0.39211	0.533000	0.62120	GAG		0.408	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		37	40	0	0	0	1	0	37	40					T	44428625	A	T	44428625	3	4	368	1	0	0	0	0	1	0	0	0	12336	304	11	5	289	5	PPM1B	2	44428625	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08		44428625	198770748	3	34099											
LCT	3938	broad.mit.edu	37	chr2	136566252	136566252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcgtaggagggtgggTttagcctgggtgttttgtgc	17	6	1	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:136566252T>C	ENST00000264162.2	-	8	3675	c.3665A>G	c.(3664-3666)aAc>aGc	p.N1222S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1222	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)	GGAGGGTGGGTTTAGCCTGGG	0.587																																						ENST00000264162.2																			0				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						c.(3664-3666)aAc>aGc		lactase							176	153	161					2																	136566252		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566252T>C	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.3665A>G	2.37:g.136566252T>C	ENSP00000264162:p.Asn1222Ser						p.N1222S	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3675	-			1222			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3665A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	4.210	0.037716	0.08148	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51325	0.71	5.65	3.08	0.35506	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.336851	0.37261	N	0.002173	T	0.29783	0.0744	N	0.25890	0.77	0.23366	N	0.997828	B	0.22276	0.067	B	0.29267	0.1	T	0.11966	-1.0566	10	0.25751	T	0.34	-22.7985	3.7071	0.08405	0.1216:0.0688:0.2523:0.5574	.	1222	P09848	LPH_HUMAN	S	1222;654	ENSP00000264162:N1222S	ENSP00000264162:N1222S	N	-	2	0	LCT	136282722	0.000000	0.05858	0.855000	0.33649	0.151000	0.21798	-0.107000	0.10873	0.929000	0.37192	0.460000	0.39030	AAC		0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		27	103	0	0	0	1	0	27	103					C	136566252	T	C	136566252	3	2	368	1	0	0	0	0	1	0	0	0	8693	1725	60	3	2158	3	LCT	2	136566252	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08	92137627	136566252	106633121	4	34100											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	17	0	0	0	1	0	24	17					T	209113112	C	T	209113112	3	4	368	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	72546860	209113112	34086261	5	34101											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190050	209190050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcacctaggctgtacaAtcaagctaagaggaggctct	10	11	2	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209190050A>G	ENST00000264380.4	+	20	2673	c.2515A>G	c.(2515-2517)Atc>Gtc	p.I839V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	839					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						AGGCTGTACAATCAAGCTAAG	0.393																																						ENST00000264380.4																			0				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						c.(2515-2517)Atc>Gtc		phosphoinositide kinase, FYVE finger containing							86	79	81					2																	209190050		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190050A>G	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.2515A>G	2.37:g.209190050A>G	ENSP00000264380:p.Ile839Val						p.I839V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	2673	+			839					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2515A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804769	0.16467	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	D;D	0.83673	-1.75;-1.75	5.77	1.81	0.25067	.	0.134136	0.47852	N	0.000206	T	0.66867	0.2833	N	0.16743	0.435	0.80722	D	1	B;B	0.21821	0.0;0.061	B;B	0.15870	0.005;0.014	T	0.53899	-0.8373	10	0.32370	T	0.25	-2.6851	8.9497	0.35781	0.7579:0.0:0.2421:0.0	.	839;783	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	V	839;415;783	ENSP00000264380:I839V;ENSP00000405736:I783V	ENSP00000264380:I839V	I	+	1	0	PIKFYVE	208898295	0.996000	0.38824	0.997000	0.53966	0.996000	0.88848	2.246000	0.43142	0.115000	0.18071	0.528000	0.53228	ATC		0.393	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		28	11	0	0	0	1	0	28	11					G	209190050	A	G	209190050	3	3	368	1	0	0	0	0	1	0	0	0	11924	101	4	3	2600	3	PIKFYVE	2	209190050	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	76938	209190050	34009323	6	34102											
GLB1	2720	broad.mit.edu	37	chr3	33109728	33109728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtaacaacctacctgggtCggaggagcggagaagaatag	14	8	0	2	rs375582374		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr3:33109728C>T	ENST00000399402.3	-	4	492	c.361G>A	c.(361-363)Gac>Aac	p.D121N	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Missense_Mutation_p.D151N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	151			R -> S (in GM1G1). {ECO:0000269|PubMed:10338095}.		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)				CTACCTGGGTCGGAGGAGCGG	0.488																																						ENST00000307363.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21	GRCh37	CM042715	GLB1	M		c.(451-453)Gac>Aac		galactosidase, beta 1		C	ASN/ASP,ASN/ASP,	0,3726		0,0,1863	85	85	85		451,361,	5.3	1	3		85	1,8187		0,1,4093	no	missense,missense,intron	GLB1	NM_000404.2,NM_001079811.1,NM_001135602.1	23,23,	0,1,5956	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,	151/678,121/648,	33109728	1,11913	1863	4094	5957	SO:0001583	missense	2720				carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	g.chr3:33109728C>T	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.361G>A	3.37:g.33109728C>T	ENSP00000382333:p.Asp121Asn					GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Missense_Mutation_p.D121N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N	p.D151N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN			4	595	-		Melanoma(143;0.104)	151		D -> V (in GM1G1).|D -> Y (in GM1G1; complete lack of protein; no enzymatic activity).			B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	c.451G>A	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502184	0.85176	0.0	1.22E-4	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000440656	D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.097894	0.64402	D	0.000001	D	0.97971	0.9332	L	0.52759	1.655	0.80722	D	1	D;D;D	0.69078	0.994;0.994;0.997	P;P;D	0.62955	0.842;0.842;0.909	D	0.98917	1.0782	10	0.62326	D	0.03	-26.0556	18.4594	0.90734	0.0:1.0:0.0:0.0	.	151;151;199	Q53G40;P16278;B7Z6Q5	.;BGAL_HUMAN;.	N	121;151;199;20	ENSP00000382333:D121N;ENSP00000306920:D151N;ENSP00000393377:D199N;ENSP00000411769:D20N	ENSP00000306920:D151N	D	-	1	0	GLB1	33084732	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	7.164000	0.77533	2.458000	0.83093	0.591000	0.81541	GAC		0.488	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404		27	36	0	0	0	1	0	27	36					T	33109728	C	T	33109728	3	4	368	1	0	0	0	0	1	0	0	0	6427	884	31	1	1634	1	GLB1	3	33109728	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		33109728	164912702	7	34103											
ARFIP1	27236	broad.mit.edu	37	chr4	153791963	153791963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagggttgcagctagtcgActggctcagcaaggaagtga	15	8	1	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr4:153791963A>G	ENST00000451320.2	+	4	425	c.261A>G	c.(259-261)cgA>cgG	p.R87R	ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000356064.3_Intron|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CAGCTAGTCGACTGGCTCAGC	0.448																																						ENST00000451320.2																		ARFIP1/FHDC1(2)	0				cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(259-261)cgA>cgG		ADP-ribosylation factor interacting protein 1							117	103	108					4																	153791963		2203	4300	6503	SO:0001819	synonymous_variant	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153791963A>G	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"arfaptin 1"	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.261A>G	4.37:g.153791963A>G						ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000356064.3_Intron	p.R87R			P53367	ARFP1_HUMAN			4	425	+	all_hematologic(180;0.093)		87					Q2M2X4|Q3SYL4|Q9Y2X6	Silent	SNP	ENST00000451320.2	37	c.261A>G	CCDS34080.1																																																																																				0.448	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		30	38	0	0	0	1	0	30	38					G	153791963	A	G	153791963	2	3	368	1	0	0	0	0	0	0	0	1	854	262	10	3		3	ARFIP1	4	153791963	Silent	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08		153791963	37362313	8	34104											
NIPBL	25836	broad.mit.edu	37	chr5	37001134	37001135	+	Frame_Shift_Del	DEL	AG	AG	-													aagagattcacagcctcaatAgagaatattttggataattt							TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr5:37001134_37001135delAG	ENST00000282516.8	+	14	4117_4118	c.3618_3619delAG	c.(3616-3621)atagagfs	p.E1207fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.E1207fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1207					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)			CAGCCTCAATAGAGAATATTTT	0.307																																						ENST00000282516.8																			0				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						c.(3616-3621)atagfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37001134_37001135delAG	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.3618_3619delAG	5.37:g.37001136_37001137delAG	ENSP00000282516:p.Glu1207fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.IE1206fs	p.IE1206fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4117_4118	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1206		I -> V.|Missing (in CDLS1).			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.3618_3619delAG	CCDS3920.1																																																																																				0.307	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	43						21	43	---	---	---	---	-	37001135	AG	-	37001134	7	5	368	1	0	1	0	1	0	0	0	0	10428	410	15	0	3668	0	NIPBL	5	37001134	Frame_Shift_Del	DEL	AG	TCGA-P5-A72Z-01A-11D-A32B-08		37001134	143914126	9	34105											
TAP1	6890	broad.mit.edu	37	chr6	32821013	32821013	+	Frame_Shift_Del	DEL	C	C	-													cgaaggcggtagggtgacttCcccagtgcagtagcctggtg							TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:32821013delC	ENST00000354258.4	-	1	742	c.581delG	c.(580-582)ggafs	p.G194fs	PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank|TAP1_ENST00000425148.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	194					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)	AGGGTGACTTCCCCAGTGCAG	0.672																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(580-582)gafs		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							24	20	21					6																	32821013		1509	2707	4216	SO:0001589	frameshift_variant	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32821013delC		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.581delG	6.37:g.32821013delC	ENSP00000346206:p.Gly194fs					PSMB9_ENST00000395330.1_Intron	p.G194fs	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			1	742	-			194					Q16149|Q96CP4	Frame_Shift_Del	DEL	ENST00000354258.4	37	c.581delG	CCDS4758.1																																																																																				0.672	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		2	4						2	4	---	---	---	---	-	32821013	C	-	32821013	7	5	368	1	0	1	0	1	0	0	0	0	15547	855	30	0	1889	0	TAP1	6	32821013	Frame_Shift_Del	DEL	C	TCGA-P5-A72Z-01A-11D-A32B-08		32821013	138294054	10	34106											
HMGCLL1	54511	broad.mit.edu	37	chr6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaaaatacctgaagggccGtaaggatatttgctaaggct	10	7	0	1	rs201456410		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(874-876)aCg>aTg		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1		G	MET/THR,MET/THR	0,3760		0,0,1880	111	100	103		785,875	3.7	0.4	6		103	1,8211		0,1,4105	yes	missense,missense	HMGCLL1	NM_001042406.1,NM_019036.2	81,81	0,1,5985	AA,AG,GG		0.0122,0.0,0.0084	benign,benign	262/341,292/371	55360227	1,11971	1880	4106	5986	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360227G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.875C>T	6.37:g.55360227G>A	ENSP00000381654:p.Thr292Met					HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000508459.1_Intron	p.T292M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1006	-	Lung NSC(77;0.0875)		292					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.875C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	8.878	0.950963	0.18431	0.0	1.22E-4	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.98207	-4.79;-4.79;-4.67;-4.79	5.5	3.72	0.42706	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.258798	0.44688	N	0.000437	D	0.91129	0.7207	N	0.13272	0.32	0.32979	D	0.523346	B;B;B;B	0.23316	0.009;0.008;0.018;0.083	B;B;B;B	0.26693	0.012;0.024;0.024;0.072	D	0.84574	0.0657	10	0.46703	T	0.11	-16.991	11.9507	0.52954	0.1413:0.0:0.8587:0.0	.	159;230;262;292	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	M	262;292;159;230	ENSP00000274901:T262M;ENSP00000381654:T292M;ENSP00000359887:T159M;ENSP00000309737:T230M	ENSP00000274901:T262M	T	-	2	0	HMGCLL1	55468186	1.000000	0.71417	0.395000	0.26283	0.958000	0.62258	3.434000	0.52841	0.682000	0.31407	0.655000	0.94253	ACG		0.383	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		25	24	0	0	0	1	0	25	24					A	55360227	G	A	55360227	3	1	368	1	0	0	0	0	1	0	0	0	7230	1145	40	1	249	1	HMGCLL1	6	55360227	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	22539214	55360227	115754840	11	34107											
DST	667	broad.mit.edu	37	chr6	56374648	56374648	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcgttccaggctctcaagGatctgatctatcttgtcatg	9	10	5	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:56374648G>A	ENST00000361203.3	-	69	17851	c.17844C>T	c.(17842-17844)atC>atT	p.I5948I	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000370788.2_Silent_p.I3862I|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370754.5_Silent_p.I6237I|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.I3971I			Q03001	DYST_HUMAN	dystonin	5949					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)			GGCTCTCAAGGATCTGATCTA	0.398																																						ENST00000370754.5																			0				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						c.(18709-18711)atC>atT		dystonin							89	78	81					6																	56374648		1856	4115	5971	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56374648G>A	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.17844C>T	6.37:g.56374648G>A						DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.I3862I	p.I6237I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		74	18710	-	Lung NSC(77;0.103)		6057					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.18711C>T																																																																																					0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		21	10	0	0	0	1	0	21	10					A	56374648	G	A	56374648	2	1	368	1	0	0	0	0	0	0	0	1	4783	1164	41	2		2	DST	6	56374648	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	1014421	56374648	114740419	12	34108											
SYNE1	23345	broad.mit.edu	37	chr6	152647526	152647526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctaggtcttctttgccGgttggcttgatgagtgggtc	14	7	3	2	rs370314344		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:152647526G>A	ENST00000367255.5	-	79	15799	c.15198C>T	c.(15196-15198)acC>acT	p.T5066T	SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000265368.4_Silent_p.T5066T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000423061.1_Silent_p.T4995T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5066					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)		CTTCTTTGCCGGTTGGCTTGA	0.522										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(15196-15198)acC>acT		spectrin repeat containing, nuclear envelope 1		G	,	0,4406		0,0,2203	91	92	92		14985,15198	-6.1	0	6		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	4995/8750,5066/8798	152647526	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647526G>A	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.15198C>T	6.37:g.152647526G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000423061.1_Silent_p.T4995T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000265368.4_Silent_p.T5066T	p.T5066T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15799	-		Ovarian(120;0.0955)	5066					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15198C>T	CCDS5236.2																																																																																				0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	34	0	0	0	1	0	23	34					A	152647526	G	A	152647526	2	1	368	1	0	0	0	0	0	0	0	1	15442	1103	39	1		1	SYNE1	6	152647526	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	96272878	152647526	18467541	13	34109											
KCND2	3751	broad.mit.edu	37	chr7	119914946	119914946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagtatttctttgaccGtgacccagacatcttccgcc	7	14	3	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:119914946G>A	ENST00000331113.4	+	1	1225	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1. {ECO:0000250}.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTCTTTGACCGTGACCCAGAC	0.527																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(259-261)cGt>cAt		potassium voltage-gated channel, Shal-related subfamily, member 2							134	136	135					7																	119914946		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914946G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.260G>A	7.37:g.119914946G>A	ENSP00000333496:p.Arg87His						p.R87H	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1225	+	all_neural(327;0.117)		87			Interaction with KCNIP1 (By similarity).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.260G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694978	0.88830	.	.	ENSG00000184408	ENST00000331113	D	0.90261	-2.64	5.51	5.51	0.81932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97433	0.9160	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98681	1.0692	9	.	.	.	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	87	Q9NZV8	KCND2_HUMAN	H	87	ENSP00000333496:R87H	.	R	+	2	0	KCND2	119702182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.603000	0.88011	0.655000	0.94253	CGT		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		4	169	0	0	0	1	0	4	169					A	119914946	G	A	119914946	3	1	368	1	0	0	0	0	1	0	0	0	8019	1145	40	1	262	1	KCND2	7	119914946	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		119914946	39223717	14	34110											
OR2A5	393046	broad.mit.edu	37	chr7	143748007	143748007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcccttctgtgggccCcatgaaatcaaccacttctt	8	14	3	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143748007C>T	ENST00000408906.2	+	1	547	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171						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)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(511-513)ccC>ccT		olfactory receptor, family 2, subfamily A, member 5							185	189	188					7																	143748007		2055	4223	6278	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748007C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.513C>T	7.37:g.143748007C>T							p.P171P	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	547	+	Melanoma(164;0.0783)		171					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.513C>T	CCDS43668.1																																																																																				0.552	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			5	255	0	0	0	1	0	5	255					T	143748007	C	T	143748007	2	4	368	1	0	0	0	0	0	0	0	1	10981	610	22	2		2	OR2A5	7	143748007	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	23833061	143748007	15390656	15	34111											
OR2A14	135941	broad.mit.edu	37	chr7	143826709	143826709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctgagcctgcccttctgCgggcctcatgaaatcaacca	8	15	3	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143826709C>T	ENST00000408899.2	+	1	559	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCCCTTCTGCGGGCCTCATG	0.552																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(502-504)tgC>tgT		olfactory receptor, family 2, subfamily A, member 14							213	228	224					7																	143826709		2038	4211	6249	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826709C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.504C>T	7.37:g.143826709C>T							p.C168C	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	559	+	Melanoma(164;0.0783)		168					Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.504C>T	CCDS43672.1																																																																																				0.552	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			92	208	0	0	0	1	0	92	208					T	143826709	C	T	143826709	2	4	368	1	0	0	0	0	0	0	0	1	10976	776	27	1		1	OR2A14	7	143826709	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	78702	143826709	15311954	16	34112											
JPH1	56704	broad.mit.edu	37	chr8	75227343	75227343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacttcatgccattggagcGctcgctaacgccgaagccgt	10	13	1	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr8:75227343G>A	ENST00000342232.4	-	2	932	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	298					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCATTGGAGCGCTCGCTAACG	0.537																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(892-894)Cgc>Tgc		junctophilin 1							135	130	131					8																	75227343		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227343G>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.892C>T	8.37:g.75227343G>A	ENSP00000344488:p.Arg298Cys						p.R298C	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	932	-	Breast(64;0.00576)		298					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.892C>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795381	0.70452	.	.	ENSG00000104369	ENST00000342232	T	0.53857	0.6	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64956	-0.6285	10	0.54805	T	0.06	.	19.1608	0.93531	0.0:0.0:1.0:0.0	.	298	Q9HDC5	JPH1_HUMAN	C	298	ENSP00000344488:R298C	ENSP00000344488:R298C	R	-	1	0	JPH1	75389898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.150000	0.50662	2.749000	0.94314	0.655000	0.94253	CGC		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			10	100	0	0	0	1	0	10	100					A	75227343	G	A	75227343	3	1	368	1	0	0	0	0	1	0	0	0	7960	1087	38	1	1109	1	JPH1	8	75227343	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		75227343	71136679	17	34113											
PTPRD	5789	broad.mit.edu	37	chr9	8521487	8521487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtgatattaacgcttcCgcctggcatgatttcatgat	9	9	1	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr9:8521487C>T	ENST00000381196.4	-	17	1294	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	251	Ig-like C2-type 3.				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)		TTAACGCTTCCGCCTGGCATG	0.468										TSP Lung(15;0.13)																												ENST00000381196.4																			0				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						c.(751-753)Gga>Aga		protein tyrosine phosphatase, receptor type, D							127	108	115					9																	8521487		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521487C>T	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.751G>A	9.37:g.8521487C>T	ENSP00000370593:p.Gly251Arg	TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R	p.G251R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		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)	17	1294	-		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)	251			Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.751G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215719	0.79352	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.39787	1.6;1.6;1.6;1.6;1.06;1.06;1.06;1.06;1.6;1.06;1.06	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.60957	1.885	0.80722	D	1	D;D;D;P;P;P;D;D;D	0.89917	0.994;0.988;0.999;0.927;0.933;0.918;0.981;1.0;0.985	P;P;D;P;B;P;P;D;P	0.87578	0.867;0.843;0.951;0.468;0.156;0.488;0.666;0.998;0.665	T	0.58912	-0.7552	9	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	241;245;251;251;248;248;238;251;251	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	251;251;238;238;251;241;248;248;251;251;251;241	ENSP00000370593:G251R;ENSP00000348812:G251R;ENSP00000353187:G238R;ENSP00000351293:G238R;ENSP00000347373:G251R;ENSP00000380741:G241R;ENSP00000380735:G248R;ENSP00000440515:G248R;ENSP00000438164:G251R;ENSP00000417093:G251R;ENSP00000380731:G241R	.	G	-	1	0	PTPRD	8511487	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	GGA		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			22	10	0	0	0	1	0	22	10					T	8521487	C	T	8521487	3	4	368	1	0	0	0	0	1	0	0	0	12799	661	23	1	5163	1	PTPRD	9	8521487	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		8521487	132691944	18	34114											
DIP2C	22982	broad.mit.edu	37	chr10	518418	518418	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgaccctgaagaccgtcGgcggtggtagcgagaggcgg	18	10	0	4			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:518418G>A	ENST00000280886.6	-	3	316	c.229C>T	c.(229-231)Cga>Tga	p.R77*	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	77	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAAGACCGTCGGCGGTGGTAG	0.592																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(229-231)Cga>Tga		DIP2 disco-interacting protein 2 homolog C (Drosophila)							141	133	136					10																	518418		2203	4300	6503	SO:0001587	stop_gained	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:518418G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.229C>T	10.37:g.518418G>A	ENSP00000280886:p.Arg77*					DIP2C_ENST00000381496.3_5'UTR	p.R77*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	316	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	77					B4DPI5|Q5SS78	Nonsense_Mutation	SNP	ENST00000280886.6	37	c.229C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628028	0.87560	.	.	ENSG00000151240	ENST00000280886;ENST00000423550	.	.	.	5.53	5.53	0.82687	.	0.072250	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9322	18.2216	0.89903	0.0:0.0:1.0:0.0	.	.	.	.	X	77;133	.	ENSP00000280886:R77X	R	-	1	2	DIP2C	508418	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.465000	0.66725	2.616000	0.88540	0.442000	0.29010	CGA		0.592	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		5	107	0	0	0	1	0	5	107					A	518418	G	A	518418	4	1	368	1	0	0	0	0	0	1	0	0	4529	1124	39	1	4581	1	DIP2C	10	518418	Nonsense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		518418	135016329	19	34115											
CHAT	1103	broad.mit.edu	37	chr10	50833584	50833584	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccctttgcatgaagcaatActatgggctcttctcctcct	7	14	2	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:50833584A>C	ENST00000337653.2	+	6	971	c.818A>C	c.(817-819)tAc>tCc	p.Y273S	CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000395562.2_Missense_Mutation_p.Y191S|CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	273					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ATGAAGCAATACTATGGGCTC	0.602																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(571-573)tAc>tCc		choline O-acetyltransferase	Choline(DB00122)						63	48	53					10																	50833584		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50833584A>C	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.818A>C	10.37:g.50833584A>C	ENSP00000337103:p.Tyr273Ser					CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S|CHAT_ENST00000337653.2_Missense_Mutation_p.Y273S	p.Y191S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1041	+		all_neural(218;0.107)	273					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.572A>C	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002102	0.74932	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	M	0.92026	3.265	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.998;0.998	D	0.97705	1.0187	10	0.87932	D	0	-27.2602	15.1156	0.72397	1.0:0.0:0.0:0.0	.	155;273	F8W8I2;P28329	.;CLAT_HUMAN	S	155;155;155;273;191;155	ENSP00000343486:Y155S;ENSP00000345878:Y155S;ENSP00000378926:Y155S;ENSP00000337103:Y273S;ENSP00000378929:Y191S;ENSP00000390521:Y155S	ENSP00000337103:Y273S	Y	+	2	0	CHAT	50503590	1.000000	0.71417	0.615000	0.29064	0.557000	0.35523	9.323000	0.96364	1.974000	0.57490	0.338000	0.21704	TAC		0.602	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		8	8	0	0	0	1	0	8	8					C	50833584	A	C	50833584	3	2	368	1	0	0	0	0	1	0	0	0	3313	391	14	5	884	5	CHAT	10	50833584	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	50315166	50833584	84701163	20	34116											
OR51I2	390064	broad.mit.edu	37	chr11	5475052	5475052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttcttctccatgatggaaTcaggtattctgctggccatg	9	10	4	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:5475052T>C	ENST00000341449.2	+	1	415	c.334T>C	c.(334-336)Tca>Cca	p.S112P	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	112					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)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGAATCAGGTATTCT	0.483																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(334-336)Tca>Cca		olfactory receptor, family 51, subfamily I, member 2							134	129	131					11																	5475052		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475052T>C	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.334T>C	11.37:g.5475052T>C	ENSP00000341987:p.Ser112Pro					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.S112P	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	415	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	112					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.334T>C	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669348	0.67814	.	.	ENSG00000187918	ENST00000341449	T	0.20332	2.08	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.62853	0.2462	H	0.97896	4.1	0.30711	N	0.749281	D	0.71674	0.998	D	0.75484	0.986	T	0.77148	-0.2694	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	112	Q9H344	O51I2_HUMAN	P	112	ENSP00000341987:S112P	ENSP00000341987:S112P	S	+	1	0	OR51I2	5431628	0.001000	0.12720	0.997000	0.53966	0.936000	0.57629	1.167000	0.31847	2.343000	0.79666	0.533000	0.62120	TCA		0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		36	70	0	0	0	1	0	36	70					C	5475052	T	C	5475052	3	2	368	1	0	0	0	0	1	0	0	0	11101	1435	50	3	336	3	OR51I2	11	5475052	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08		5475052	129531464	21	34117											
C11orf16	56673	broad.mit.edu	37	chr11	8943016	8943016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagtttgtgctctctgCtgtttgtgatccttttcttc	8	10	2	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:8943016C>T	ENST00000326053.5	-	6	1357	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	417										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGCTCTCTGCTGTTTGTGAT	0.473																																						ENST00000326053.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1249-1251)caG>caA		chromosome 11 open reading frame 16							168	151	157					11																	8943016		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8943016C>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1251G>A	11.37:g.8943016C>T						C11orf16_ENST00000525780.1_Intron	p.Q417Q	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1357	-			417					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.1251G>A	CCDS7794.1																																																																																				0.473	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		7	104	0	0	0	1	0	7	104					T	8943016	C	T	8943016	2	4	368	1	0	0	0	0	0	0	0	1	1631	796	28	2		2	C11orf16	11	8943016	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	3467964	8943016	126063500	22	34118											
PPP2R5B	5526	broad.mit.edu	37	chr11	64694345	64694345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggagcacccggggtgtcCtcatcgagcccgtctaccca	13	15	2	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:64694345C>A	ENST00000164133.2	+	3	983	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	121					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCGGGGTGTCCTCATCGAGCC	0.652																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(361-363)Ctc>Atc		protein phosphatase 2, regulatory subunit B', beta							100	88	92					11																	64694345		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694345C>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.361C>A	11.37:g.64694345C>A	ENSP00000164133:p.Leu121Ile						p.L121I	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			3	983	+			121					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.361C>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126298	0.20959	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.94	3.94	0.45596	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.38585	0.1046	N	0.21373	0.66	0.58432	D	0.999993	P	0.36465	0.554	B	0.41946	0.371	T	0.19778	-1.0295	9	0.02654	T	1	-29.5885	14.2826	0.66224	0.0:1.0:0.0:0.0	.	121	Q15173	2A5B_HUMAN	I	121;121;148;35;121	.	ENSP00000164133:L121I	L	+	1	0	PPP2R5B	64450921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.738000	0.47401	2.485000	0.83878	0.655000	0.94253	CTC		0.652	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		3	37	1	0	0.115264	1	0.117481	3	37					A	64694345	C	A	64694345	3	1	368	1	0	0	0	0	1	0	0	0	12393	681	24	4	367	4	PPP2R5B	11	64694345	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	55751329	64694345	70312171	23	34119											
RELT	84957	broad.mit.edu	37	chr11	73105561	73105561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgccacacatctgcccGcaccgccaccatctccacac	5	21	2	0	rs373736645	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:73105561G>A	ENST00000064780.2	+	9	1089	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RELT_ENST00000393580.2_Silent_p.P276P|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	276						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ACATCTGCCCGCACCGCCACC	0.706																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(826-828)ccG>ccA		RELT tumor necrosis factor receptor							58	64	62					11																	73105561		2199	4292	6491	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105561G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.828G>A	11.37:g.73105561G>A						RELT_ENST00000393580.2_Silent_p.P276P	p.P276P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1089	+			276					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.828G>A	CCDS8222.1																																																																																				0.706	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	122	0	0	0	1	0	4	122					A	73105561	G	A	73105561	2	1	368	1	0	0	0	0	0	0	0	1	13221	1074	38	1		1	RELT	11	73105561	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	8411216	73105561	61900955	24	34120											
DSCAML1	57453	broad.mit.edu	37	chr11	117391914	117391914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgaagcactggtaggcccCggaatggctcttctgggccg	15	12	2	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:117391914C>T	ENST00000321322.6	-	6	1325	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	382	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGGCCCCGGAATGGCTC	0.652																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1324-1326)Ggg>Agg		Down syndrome cell adhesion molecule like 1							106	94	98					11																	117391914		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117391914C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1324G>A	11.37:g.117391914C>T	ENSP00000315465:p.Gly442Arg					DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	p.G442R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1325	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	382			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1324G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896408	0.91962	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.81247	-1.47;-1.47	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94483	0.8224	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96962	0.9702	9	0.87932	D	0	.	18.1535	0.89684	0.0:1.0:0.0:0.0	.	172;382	G3V1B5;Q8TD84	.;DSCL1_HUMAN	R	172;442;149	ENSP00000434335:G172R;ENSP00000315465:G442R	ENSP00000315465:G442R	G	-	1	0	DSCAML1	116897124	1.000000	0.71417	0.379000	0.26080	0.952000	0.60782	7.617000	0.83032	2.519000	0.84933	0.609000	0.83330	GGG		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	116	0	0	0	1	0	5	116					T	117391914	C	T	117391914	3	4	368	1	0	0	0	0	1	0	0	0	4769	652	23	1	5129	1	DSCAML1	11	117391914	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	44286353	117391914	17614602	25	34121											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687257	123687257	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggaagctgggactgactGactgaggccgaagcaaccat	13	11	0	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:123687257G>T	ENST00000606320.1	-	10	1901	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	565						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)		GGGACTGACTGACTGAGGCCG	0.433																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1693-1695)gtC>gtA		M-phase phosphoprotein 9							115	104	108					12																	123687257		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687257G>T	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.1695C>A	12.37:g.123687257G>T						MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V	p.V565V			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	10	1901	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		413					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1695C>A																																																																																					0.433	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			3	54	1	0	6.4e-05	1	6.65098e-05	3	54					T	123687257	G	T	123687257	2	4	368	1	0	0	0	0	0	0	0	1	9728	1277	45	4		4	MPHOSPH9	12	123687257	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		123687257	10164638	26	34122											
UBC	7316	broad.mit.edu	37	chr12	125397725	125397725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctga	7	13	3	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:125397725G>A	ENST00000536769.1	-	1	2169	c.593C>T	c.(592-594)gCc>gTc	p.A198V	UBC_ENST00000339647.5_Missense_Mutation_p.A198V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A122V			P0CG48	UBC_HUMAN	ubiquitin C	198	Ubiquitin-like 3. {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)		CTGTTTTCCGGCAAAGATCAA	0.507																																						ENST00000536769.1																			0				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						c.(592-594)gCc>gTc		ubiquitin C							160	146	151					12																	125397725		2203	4298	6501	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397725G>A		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		ENST00000536769.1:c.593C>T	12.37:g.125397725G>A	ENSP00000441543:p.Ala198Val					UBC_ENST00000546120.1_Missense_Mutation_p.A122V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A198V	p.A198V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2169	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		198			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.593C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	14.03	2.414321	0.42817	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120;ENST00000541272	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	2.42	2.42	0.29668	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.47852	U	0.000216	T	0.76521	0.3999	M	0.85945	2.785	0.48696	D	0.999691	P;B;P	0.40376	0.715;0.243;0.715	B;B;B	0.41723	0.365;0.032;0.365	T	0.81466	-0.0920	10	0.72032	D	0.01	.	11.1259	0.48317	0.0:0.0:1.0:0.0	.	287;198;198	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	198;198;122;198;122;122	ENSP00000441543:A198V;ENSP00000344818:A198V;ENSP00000438394:A122V;ENSP00000440205:A122V	ENSP00000344818:A198V	A	-	2	0	UBC	123963678	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	5.811000	0.69187	1.696000	0.51158	0.543000	0.68304	GCC		0.507	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	138	0	0	0	1	0	4	138					A	125397725	G	A	125397725	3	1	368	1	0	0	0	0	1	0	0	0	16839	1203	42	2	1468	2	UBC	12	125397725	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	1710468	125397725	8454170	27	34123											
FAM65A	79567	broad.mit.edu	37	chr16	67575592	67575592	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccagccctcagctgcttcTtctgtcaacaaggcctccac	7	17	4	0	rs377549645		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr16:67575592T>G	ENST00000379312.3	+	12	1120	c.999T>G	c.(997-999)tcT>tcG	p.S333S	FAM65A_ENST00000540839.3_Silent_p.S349S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Silent_p.S329S|FAM65A_ENST00000422602.2_Silent_p.S349S|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Silent_p.S343S|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	333						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGCTGCTTCTTCTGTCAACA	0.597																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1045-1047)tcT>tcG		family with sequence similarity 65, member A		T	,,,	0,4396		0,0,2198	95	92	93		999,1047,1029,987	0.5	1	16		93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	,,,	0,2,6496	GG,GT,TT		0.0233,0.0,0.0154	,,,	333/1224,349/1240,343/1234,329/1220	67575592	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67575592T>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.999T>G	16.37:g.67575592T>G						FAM65A_ENST00000379312.3_Silent_p.S333S|FAM65A_ENST00000042381.4_Silent_p.S329S|FAM65A_ENST00000428437.2_Silent_p.S343S|FAM65A_ENST00000422602.2_Silent_p.S349S	p.S349S			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	13	1267	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	333					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.1047T>G	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	T	5.226	0.227179	0.09916	0.0	2.33E-4	ENSG00000039523	ENST00000428437	.	.	.	4.49	0.463	0.16700	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-13.4974	3.4875	0.07625	0.2362:0.5208:0.0:0.243	.	.	.	.	V	324	.	.	F	+	1	0	FAM65A	66133093	0.947000	0.32204	0.983000	0.44433	0.477000	0.33069	1.609000	0.36858	0.095000	0.17434	0.459000	0.35465	TTC		0.597	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		15	17	0	0	0	1	0	15	17					G	67575592	T	G	67575592	2	3	368	1	0	0	0	0	0	0	0	1	5599	1596	56	5		5	FAM65A	16	67575592	Silent	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08		67575592	22779161	28	34124											
KCNJ12	3768	broad.mit.edu	37	chr17	21318742	21318742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgtcgggcgccaacGgcttcggcaacggcaaggtg	14	13	1	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21318742G>A	ENST00000583088.1	+	3	983	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	30					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGGCGCCAACGGCTTCGGCAA	0.647										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(88-90)Ggc>Agc		potassium inwardly-rectifying channel, subfamily J, member 12							84	71	75					17																	21318742		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318742G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.88G>A	17.37:g.21318742G>A	ENSP00000463778:p.Gly30Ser	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	p.G30S	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	983	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.88G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139949	0.77775	.	.	ENSG00000184185	ENST00000331718	T	0.38887	1.11	5.33	4.36	0.52297	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.172827	0.51477	N	0.000097	T	0.43033	0.1229	L	0.51422	1.61	0.80722	D	1	D	0.54047	0.964	P	0.46796	0.527	T	0.28299	-1.0048	10	0.33141	T	0.24	.	13.8446	0.63459	0.0741:0.0:0.9259:0.0	.	30	Q14500	IRK12_HUMAN	S	30	ENSP00000328150:G30S	ENSP00000328150:G30S	G	+	1	0	KCNJ12	21259335	1.000000	0.71417	0.960000	0.40013	0.854000	0.48673	7.855000	0.86950	1.246000	0.43901	0.591000	0.81541	GGC		0.647	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		7	45	0	0	0	1	0	7	45					A	21318742	G	A	21318742	3	1	368	1	0	0	0	0	1	0	0	0	8046	1116	39	1	90	1	KCNJ12	17	21318742	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		21318742	59876468	29	34125											
WSB1	26118	broad.mit.edu	37	chr17	25631850	25631850	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcatactgaagtggtcagaGatttaacttttgctccagat	8	7	2	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:25631850G>A	ENST00000262394.2	+	4	839	c.523G>A	c.(523-525)Gat>Aat	p.D175N	WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.D175N|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000348811.2_Missense_Mutation_p.D29N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	175					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTGGTCAGAGATTTAACTTT	0.348																																						ENST00000262394.2																			0				lung(3)	3						c.(523-525)Gat>Aat		WD repeat and SOCS box containing 1							120	118	118					17																	25631850		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25631850G>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"WD repeat domain containing"	19221	protein-coding gene	gene with protein product		610091	"WD repeat and SOCS box-containing 1"			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.523G>A	17.37:g.25631850G>A	ENSP00000262394:p.Asp175Asn					WSB1_ENST00000348811.2_Missense_Mutation_p.D29N|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000581185.1_Missense_Mutation_p.D175N	p.D175N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	839	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		175					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.523G>A	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	G	36	5.656326	0.96724	.	.	ENSG00000109046	ENST00000262394;ENST00000427287;ENST00000348811	T;T;T	0.61040	0.14;0.14;0.14	5.95	5.95	0.96441	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	0.75961	0.3921	M	0.76002	2.32	0.80722	D	1	B;B;B;D;D	0.69078	0.006;0.1;0.082;0.993;0.997	B;B;B;P;D	0.64776	0.013;0.066;0.039;0.836;0.929	T	0.75766	-0.3202	10	0.54805	T	0.06	-13.869	19.3906	0.94581	0.0:0.0:1.0:0.0	.	144;175;175;29;175	B4DGB8;B4DTL1;Q9Y6I7-3;Q9Y6I7-2;Q9Y6I7	.;.;.;.;WSB1_HUMAN	N	175;144;29	ENSP00000262394:D175N;ENSP00000416112:D144N;ENSP00000327055:D29N	ENSP00000262394:D175N	D	+	1	0	WSB1	22655977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.552000	0.73914	2.827000	0.97445	0.650000	0.86243	GAT		0.348	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		38	42	0	0	0	1	0	38	42					A	25631850	G	A	25631850	3	1	368	1	0	0	0	0	1	0	0	0	17401	942	33	2	537	2	WSB1	17	25631850	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	4313108	25631850	55563360	30	34126											
USHBP1	83878	broad.mit.edu	37	chr19	17362479	17362479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgttccagctccctgcGcagagactgcagctgctcct	9	17	0	1	rs139642055		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17362479G>A	ENST00000252597.3	-	12	2007	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCTCCCTGCGCAGAGACTGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15382	0.001		0.0	False		,,,				2504	0.0					ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1834-1836)Cgc>Tgc		Usher syndrome 1C binding protein 1		G	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	74	73	73		1834	-2	0	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USHBP1	NM_031941.3	180	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	probably-damaging	612/704	17362479	6,13000	2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17362479G>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1834C>T	19.37:g.17362479G>A	ENSP00000252597:p.Arg612Cys					USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	p.R612C	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			12	2007	-			612						Missense_Mutation	SNP	ENST00000252597.3	37	c.1834C>T	CCDS12353.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.444	1.088811	0.20390	0.001135	1.16E-4	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.19250	2.17;2.16	4.28	-2.02	0.07388	.	0.610995	0.13794	N	0.362329	T	0.19927	0.0479	L	0.57536	1.79	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.47470	0.548;0.548	T	0.12116	-1.0560	10	0.66056	D	0.02	-11.2307	2.7278	0.05219	0.309:0.0:0.3506:0.3404	.	548;612	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	C	612;548	ENSP00000252597:R612C;ENSP00000407902:R548C	ENSP00000252597:R612C	R	-	1	0	USHBP1	17223479	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.070000	0.11523	-0.204000	0.10235	0.561000	0.74099	CGC		0.602	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		38	34	0	0	0	1	0	38	34					A	17362479	G	A	17362479	3	1	368	1	0	0	0	0	1	0	0	0	17034	1087	38	1	285	1	USHBP1	19	17362479	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		17362479	41766504	31	34127											
ABHD8	79575	broad.mit.edu	37	chr19	17405266	17405266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacgttgaaagcgttgcccTcctttaacagctgcttctcc	7	14	1	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17405266T>C	ENST00000247706.3	-	4	1219	c.980A>G	c.(979-981)gAg>gGg	p.E327G	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	327							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGCGTTGCCCTCCTTTAACAG	0.647																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(979-981)gAg>gGg		abhydrolase domain containing 8							158	125	136					19																	17405266		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405266T>C	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.980A>G	19.37:g.17405266T>C	ENSP00000247706:p.Glu327Gly					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.E327G	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1219	-			327					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.980A>G	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861211	0.71949	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.68181	-0.31	5.28	5.28	0.74379	.	0.115620	0.64402	D	0.000020	T	0.61887	0.2383	L	0.49778	1.585	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.59542	-0.7435	10	0.44086	T	0.13	-37.2153	13.1538	0.59505	0.0:0.0:0.0:1.0	.	327	Q96I13	ABHD8_HUMAN	G	327;273	ENSP00000247706:E327G	ENSP00000247706:E327G	E	-	2	0	ABHD8	17266266	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.665000	0.83852	1.998000	0.58463	0.533000	0.62120	GAG		0.647	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		11	79	0	0	0	1	0	11	79					C	17405266	T	C	17405266	3	2	368	1	0	0	0	0	1	0	0	0	87	1551	54	3	347	3	ABHD8	19	17405266	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08	42787	17405266	41723717	32	34128											
CIC	23152	broad.mit.edu	37	chr19	42791805	42791805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggacaaccggaccgtcAgcaagatcctgggcgagtgg	14	12	1	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:42791805A>G	ENST00000575354.2	+	5	731	c.691A>G	c.(691-693)Agc>Ggc	p.S231G	CIC_ENST00000160740.3_Missense_Mutation_p.S231G|CIC_ENST00000572681.2_Missense_Mutation_p.S1140G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231					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)				CCGGACCGTCAGCAAGATCCT	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3418-3420)Agc>Ggc		capicua transcriptional repressor							81	75	77					19																	42791805		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791805A>G	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.691A>G	19.37:g.42791805A>G	ENSP00000458663:p.Ser231Gly					CIC_ENST00000575354.2_Missense_Mutation_p.S231G|CIC_ENST00000160740.3_Missense_Mutation_p.S231G	p.S1140G			Q96RK0	CIC_HUMAN			6	3486	+		Prostate(69;0.00682)	231			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3418A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364545	0.41902	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.71031	0.3292	L	0.61218	1.895	0.58432	D	0.999997	D	0.69078	0.997	D	0.77004	0.989	T	0.74259	-0.3723	8	0.87932	D	0	-14.3951	11.626	0.51145	1.0:0.0:0.0:0.0	.	231	Q96RK0	CIC_HUMAN	G	231	.	ENSP00000160740:S231G	S	+	1	0	CIC	47483645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AGC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	2	0	0	0	1	0	32	2					G	42791805	A	G	42791805	3	3	368	1	0	0	0	0	1	0	0	0	3424	188	7	3	709	3	CIC	19	42791805	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	25386539	42791805	16337178	33	34129											
NLRP2	55655	broad.mit.edu	37	chr19	55494451	55494451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcctgtgggcgcagaCgtccgtgcttcaccgagagg	17	12	1	2	rs200623569		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:55494451C>T	ENST00000543010.1	+	6	1528	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	462	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGGCGCAGACGTCCGTGCTT	0.687																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1384-1386)aCg>aTg		NLR family, pyrin domain containing 2		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	33	33	33		1385,1319,1316,1385	-1.8	0	19		33	2,8596		0,2,4297	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	81,81,81,81	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	462/1063,440/1041,439/1040,462/1063	55494451	2,13002	2203	4299	6502	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494451C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1385C>T	19.37:g.55494451C>T	ENSP00000445135:p.Thr462Met					NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M	p.T462M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1528	+			462			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1385C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	c	0.077	-1.190086	0.01607	0.0	2.33E-4	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74737	-0.82;-0.76;-0.76;-0.82;-0.76;-0.87;-0.76;-0.82	1.9	-1.75	0.08031	.	1.094320	0.07248	N	0.865401	T	0.56978	0.2022	N	0.20766	0.605	0.09310	N	1	B;B;B;B;B	0.21688	0.029;0.059;0.035;0.059;0.035	B;B;B;B;B	0.20577	0.012;0.018;0.013;0.03;0.013	T	0.40459	-0.9562	10	0.33141	T	0.24	.	8.0601	0.30627	0.0:0.7089:0.0:0.2911	.	439;440;459;438;462	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	462;438;440;462;440;439;438;459	ENSP00000445135:T462M;ENSP00000375601:T438M;ENSP00000344074:T440M;ENSP00000409370:T462M;ENSP00000440601:T440M;ENSP00000402474:T439M;ENSP00000441133:T438M;ENSP00000263437:T459M	ENSP00000263437:T459M	T	+	2	0	NLRP2	60186263	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	-0.359000	0.08150	-1.338000	0.01255	ACG		0.687	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		32	2	0	0	0	1	0	32	2					T	55494451	C	T	55494451	3	4	368	1	0	0	0	0	1	0	0	0	10477	536	19	1	1403	1	NLRP2	19	55494451	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	12702646	55494451	3634532	34	34130											
C20orf79	140856	broad.mit.edu	37	chr20	18794772	18794772	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacctgccaggctcccagcaGacactgtctttacaatcccg	8	16	1	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:18794772G>T	ENST00000377428.2	+	1	403	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	105	SCP2.																GCTCCCAGCAGACACTGTCTT	0.507																																						ENST00000377428.2																			0											c.(313-315)Gac>Tac		SCP2 sterol-binding domain containing 1							63	67	66					20																	18794772		2203	4300	6503	SO:0001583	missense	140856							g.chr20:18794772G>T	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"sterol carrier protein 2-like protein"		"chromosome 20 open reading frame 79"	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.313G>T	20.37:g.18794772G>T	ENSP00000366645:p.Asp105Tyr					C20orf78_ENST00000278779.4_Intron	p.D105Y	NM_178483.2	NP_848578.1					1	403	+								Q548A4	Missense_Mutation	SNP	ENST00000377428.2	37	c.313G>T	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062377	0.76187	.	.	ENSG00000132631	ENST00000377428	T	0.36157	1.27	6.08	6.08	0.98989	SCP2 sterol-binding domain (2);	0.000000	0.64402	D	0.000002	T	0.72162	0.3426	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79176	-0.1911	10	0.87932	D	0	-25.7139	18.1659	0.89727	0.0:0.0:1.0:0.0	.	105	Q9UJQ7	CT079_HUMAN	Y	105	ENSP00000366645:D105Y	ENSP00000366645:D105Y	D	+	1	0	C20orf79	18742772	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.117000	0.64667	2.894000	0.99253	0.591000	0.81541	GAC		0.507	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		15	26	1	0	2.62699e-14	1	2.78461e-14	15	26					T	18794772	G	T	18794772	3	4	368	1	0	0	0	0	1	0	0	0	2119	942	33	4	315	4	C20orf79	20	18794772	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		18794772	44230748	35	34131											
MYH7B	57644	broad.mit.edu	37	chr20	33574784	33574784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatggggaggagctcatcGccaccgacgtatgagctctg	14	10	2	2	rs115275866	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:33574784G>A	ENST00000262873.7	+	13	1218	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	334	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGCTCATCGCCACCGACGT	0.607													G|||	16	0.00319489	0.0121	0.0	5008	,	,		18635	0.0		0.0	False		,,,				2504	0.0					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1126-1128)Gcc>Acc		myosin, heavy chain 7B, cardiac muscle, beta		G	THR/ALA	57,4197		0,57,2070	77	76	76		1126	3.7	1	20	dbSNP_132	76	1,8471		0,1,4235	yes	missense	MYH7B	NM_020884.3	58	0,58,6305	AA,AG,GG		0.0118,1.3399,0.4558	possibly-damaging	376/1984	33574784	58,12668	2127	4236	6363	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33574784G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1126G>A	20.37:g.33574784G>A	ENSP00000262873:p.Ala376Thr						p.A376T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		13	1218	+			334			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1126G>A	CCDS42869.1	12	0.005494505494505495	12	0.024390243902439025	0	0.0	0	0.0	0	0.0	G	19.22	3.786240	0.70337	0.013399	1.18E-4	ENSG00000078814	ENST00000262873	D	0.87491	-2.26	3.66	3.66	0.41972	Myosin head, motor domain (2);	0.000000	0.35708	N	0.003040	T	0.81612	0.4859	M	0.80847	2.515	0.39394	D	0.966466	P	0.51240	0.943	P	0.47299	0.543	D	0.87287	0.2296	10	0.72032	D	0.01	.	12.3325	0.55048	0.0878:0.0:0.9122:0.0	.	334	A7E2Y1	MYH7B_HUMAN	T	376	ENSP00000262873:A376T	ENSP00000262873:A376T	A	+	1	0	MYH7B	33038445	0.861000	0.29849	1.000000	0.80357	0.538000	0.34931	2.633000	0.46519	2.356000	0.79943	0.655000	0.94253	GCC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		17	28	0	0	0	1	0	17	28					A	33574784	G	A	33574784	3	1	368	1	0	0	0	0	1	0	0	0	10040	1087	38	1	1176	1	MYH7B	20	33574784	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	14780012	33574784	29450736	36	34132											
SRMS	6725	broad.mit.edu	37	chr20	62172684	62172684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttggagctgctgctcGgggagtagatgtcgtcctgg	17	8	1	1	rs374780062		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62172684G>A	ENST00000217188.1	-	7	1185	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGCTGCTCGGGGAGTAGAT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16997	0.0		0.0	False		,,,				2504	0.001					ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1144-1146)cCg>cTg		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	95	107	103		1145	4.6	1	20		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRMS	NM_080823.2	98	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	382/489	62172684	2,13004	2203	4300	6503	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172684G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1145C>T	20.37:g.62172684G>A	ENSP00000217188:p.Pro382Leu						p.P382L	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1185	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		382			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1145C>T	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345602	0.61073	2.27E-4	1.16E-4	ENSG00000125508	ENST00000217188	D	0.82167	-1.58	4.58	4.58	0.56647	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.108142	0.40469	N	0.001099	T	0.67970	0.2950	N	0.10837	0.055	0.45354	D	0.998343	B	0.14012	0.009	B	0.08055	0.003	T	0.67221	-0.5725	10	0.87932	D	0	.	10.9816	0.47497	0.0882:0.0:0.9118:0.0	.	382	Q9H3Y6	SRMS_HUMAN	L	382	ENSP00000217188:P382L	ENSP00000217188:P382L	P	-	2	0	SRMS	61643128	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	4.182000	0.58310	2.265000	0.75225	0.561000	0.74099	CCG		0.662	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		54	83	0	0	0	1	0	54	83					A	62172684	G	A	62172684	3	1	368	1	0	0	0	0	1	0	0	0	15151	1116	39	1	329	1	SRMS	20	62172684	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	28597900	62172684	852836	37	34133											
PRIC285	85441	broad.mit.edu	37	chr20	62203514	62203514	+	Frame_Shift_Del	DEL	G	G	-													ggtggggaacggtgctcccaGggcagggcctggtcgaaggc							TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62203514delG	ENST00000467148.1	-	1	294	c.225delC	c.(223-225)cccfs	p.P75fs	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	75					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)										GGTGCTCCCAGGGCAGGGCCT	0.647																																						ENST00000467148.1																			0											c.(223-225)ccfs		helicase with zinc finger 2, transcriptional coactivator							35	30	32					20																	62203514		2187	4294	6481	SO:0001589	frameshift_variant	85441							g.chr20:62203514delG	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.225delC	20.37:g.62203514delG	ENSP00000417401:p.Pro75fs					HELZ2_ENST00000479540.1_5'UTR	p.P75fs	NM_001037335.2	NP_001032412.2					1	294	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.225delC	CCDS33508.1																																																																																				0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	9						7	9	---	---	---	---	-	62203514	G	-	62203514	7	5	368	1	0	1	0	1	0	0	0	0	12485	987	35	0	7823	0	PRIC285	20	62203514	Frame_Shift_Del	DEL	G	TCGA-P5-A72Z-01A-11D-A32B-08	30830	62203514	822006	38	34134											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127495	32127495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaaagcaaaatggccGgtagccacagtagccagagc	10	11	2	1	rs557551233	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr21:32127495G>A	ENST00000335093.3	-	1	251	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	68						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						CAAAATGGCCGGTAGCCACAG	0.478													G|||	4	0.000798722	0.0	0.0	5008	,	,		18297	0.001		0.0	False		,,,				2504	0.0031					ENST00000335093.3																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(202-204)Cgg>Tgg		keratin associated protein 21-1							101	102	102					21																	32127495		2201	4295	6496	SO:0001583	missense	337977					intermediate filament		g.chr21:32127495G>A	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"Keratin associated proteins"	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.202C>T	21.37:g.32127495G>A	ENSP00000335566:p.Arg68Trp						p.R68W	NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN			1	251	-			68						Missense_Mutation	SNP	ENST00000335093.3	37	c.202C>T	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	G	2.047	-0.418684	0.04766	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.67	-8.36	0.00980	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22243	-1.0222	7	0.52906	T	0.07	.	2.0861	0.03646	0.217:0.1042:0.1765:0.5023	.	68	Q3LI58	KR211_HUMAN	W	68	.	ENSP00000335566:R68W	R	-	1	2	KRTAP21-1	31049366	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.126000	0.01316	-2.084000	0.00866	-0.195000	0.12781	CGG		0.478	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			10	198	0	0	0	1	0	10	198					A	32127495	G	A	32127495	3	1	368	1	0	0	0	0	1	0	0	0	8538	1115	39	1	39	1	KRTAP21-1	21	32127495	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		32127495	16002400	39	34135											
ACOT9	23597	broad.mit.edu	37	chrX	23723125	23723125	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctacctgtgaagaaagaaaGagcaatgagccaacctcaac	8	11	1	5			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:23723125G>A	ENST00000336430.7	-	13	1196	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000379303.5_Silent_p.L364L	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	355					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGAAAGAAAGAGCAATGAGC	0.413																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(1090-1092)ctC>ctT		acyl-CoA thioesterase 9							108	93	98					X																	23723125		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723125G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1065C>T	X.37:g.23723125G>A						ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000336430.7_Silent_p.L355L	p.L364L	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			14	1220	-			355					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.1092C>T	CCDS35216.1																																																																																				0.413	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		16	74	0	0	0	1	0	16	74					A	23723125	G	A	23723125	2	1	368	1	0	0	0	0	0	0	0	1	157	929	33	2		2	ACOT9	23	23723125	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		23723125	131547435	40	34136											
KDM5C	8242	broad.mit.edu	37	chrX	53226063	53226063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttcacctcatccagccatCgcgcctgttccacctgccgc	7	19	2	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:53226063C>T	ENST00000375401.3	-	19	3318	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q|KDM5C_ENST00000452825.3_Missense_Mutation_p.R862Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	929					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						ATCCAGCCATCGCGCCTGTTC	0.672			"N, F, S"		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				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						c.(2584-2586)cGa>cAa		lysine (K)-specific demethylase 5C							33	30	31					X																	53226063		2197	4296	6493	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53226063C>T	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.2786G>A	X.37:g.53226063C>T	ENSP00000364550:p.Arg929Gln					KDM5C_ENST00000375401.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q	p.R862Q	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			17	3117	-			929					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.2585G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106561	0.37145	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.44	-0.0947	0.13643	Lysine-specific demethylase-like domain (1);	0.483430	0.21970	N	0.066469	T	0.23410	0.0566	N	0.21448	0.665	0.27914	N	0.938499	B;B;B	0.20988	0.05;0.025;0.025	B;B;B	0.13407	0.009;0.009;0.009	T	0.14309	-1.0477	10	0.26408	T	0.33	-0.0759	8.2409	0.31660	0.0:0.4555:0.0:0.5445	.	862;928;929	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Q	862;929;928;929;888	ENSP00000445176:R862Q;ENSP00000364550:R929Q;ENSP00000385394:R928Q;ENSP00000364528:R929Q;ENSP00000364532:R888Q	ENSP00000364528:R929Q	R	-	2	0	KDM5C	53242788	0.028000	0.19301	0.546000	0.28166	0.936000	0.57629	0.241000	0.18065	-0.054000	0.13266	-0.215000	0.12644	CGA		0.672	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		5	10	0	0	0	1	0	5	10					T	53226063	C	T	53226063	3	4	368	1	0	0	0	0	1	0	0	0	8135	884	31	1	2026	1	KDM5C	23	53226063	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	29502938	53226063	102044497	41	34137											
PDZD4	57595	broad.mit.edu	37	chrX	153068982	153068982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagctcgggcttgctgtcGccattctgctgctcccgcag	12	14	1	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:153068982G>A	ENST00000164640.4	-	8	2327	c.2136C>T	c.(2134-2136)ggC>ggT	p.G712G	PDZD4_ENST00000544474.1_Silent_p.G603G|PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000475140.1_5'Flank	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	712						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)					GCTTGCTGTCGCCATTCTGCT	0.602																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(2134-2136)ggC>ggT		PDZ domain containing 4							141	108	119					X																	153068982		2203	4300	6503	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153068982G>A	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.2136C>T	X.37:g.153068982G>A						PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000544474.1_Silent_p.G603G	p.G712G	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2327	-	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)		712					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.2136C>T	CCDS14732.1																																																																																				0.602	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		26	60	0	0	0	1	0	26	60					A	153068982	G	A	153068982	2	1	368	1	0	0	0	0	0	0	0	1	11703	1074	38	1		1	PDZD4	23	153068982	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	99842919	153068982	2201578	42	34138											
ADAM15	8751	broad.mit.edu	37	chr1	155034402	155034402	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggctgaccgacccaAtccccctacccgccctctgc	8	20	1	2			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:155034402A>G	ENST00000356955.2	+	21	2476	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000472434.1_3'UTR|EFNA3_ENST00000505139.1_5'Flank|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368413.1_Intron|EFNA3_ENST00000556931.1_5'Flank|EFNA4_ENST00000368409.3_5'Flank|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S|ADAM15_ENST00000531455.1_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	792					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)			GACCGACCCAATCCCCCTACC	0.647											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356955.2																			0				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						c.(2374-2376)aAt>aGt		ADAM metallopeptidase domain 15							101	104	103					1																	155034402		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155034402A>G	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.2375A>G	1.37:g.155034402A>G	ENSP00000349436:p.Asn792Ser		OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000355956.2_Intron	p.N792S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		21	2476	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		792					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.2375A>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	a	14.00	2.404881	0.42613	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280	T;T;T	0.00691	5.85;5.86;5.84	4.37	1.98	0.26296	.	0.000000	0.46758	D	0.000279	T	0.00356	0.0011	N	0.04705	-0.18	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.83275	0.995;0.996;0.99;0.98	T	0.64063	-0.6495	10	0.07482	T	0.82	.	4.3332	0.11073	0.6904:0.2027:0.1069:0.0	.	767;791;792;788	Q13444-5;Q13444-3;Q13444;Q59GF2	.;.;ADA15_HUMAN;.	S	792;791;767	ENSP00000349436:N792S;ENSP00000403843:N791S;ENSP00000352226:N767S	ENSP00000349436:N792S	N	+	2	0	ADAM15	153301026	0.977000	0.34250	0.999000	0.59377	0.997000	0.91878	0.433000	0.21477	0.210000	0.20664	0.446000	0.29264	AAT		0.647	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		63	82	0	0	0	1	0	63	82					G	155034402	A	G	155034402	3	3	369	1	0	0	0	0	1	0	0	0	237	101	4	3	2457	3	ADAM15	1	155034402	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08		155034402	94216219	1	34139											
OR2T11	127077	broad.mit.edu	37	chr1	248789593	248789593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagaggattaagcatgggCgtgacaatggtatagaaggc	15	4	0	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279						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(5)|lung(20)|skin(2)	28	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)			TAAGCATGGGCGTGACAATGG	0.488																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(835-837)acG>acA		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							100	97	98					1																	248789593		2054	4234	6288	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789593C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.837G>A	1.37:g.248789593C>T							p.T279T	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	898	-	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)		279					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.837G>A	CCDS31122.1																																																																																				0.488	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		13	58	0	0	0	1	0	13	58					T	248789593	C	T	248789593	2	4	369	1	0	0	0	0	0	0	0	1	11018	755	27	1		1	OR2T11	1	248789593	Silent	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	93755191	248789593	461028	2	34140											
VWA3B	200403	broad.mit.edu	37	chr2	98928369	98928369	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagagagccaagacgagaGaagcccaggaggaaaaagag	14	8	0	4			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr2:98928369G>T	ENST00000477737.1	+	27	3813	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1203										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						CAAGACGAGAGAAGCCCAGGA	0.612																																						ENST00000477737.1																			0				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						c.(3607-3609)gaG>gaT		von Willebrand factor A domain containing 3B							19	25	23					2																	98928369		1878	4087	5965	SO:0001583	missense	200403							g.chr2:98928369G>T	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.3609G>T	2.37:g.98928369G>T	ENSP00000417955:p.Glu1203Asp					VWA3B_ENST00000490947.2_3'UTR	p.E1203D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3813	+			1203					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3609G>T	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.478101|2.478101	0.44044|0.44044	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.08634|.	3.07|.	3.89|3.89	2.07|2.07	0.26955|0.26955	.|.	.|.	.|.	.|.	.|.	T|.	0.35068|.	0.0919|.	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999997|0.999997	D;D|.	0.64830|.	0.994;0.99|.	P;P|.	0.57846|.	0.828;0.677|.	T|.	0.23368|.	-1.0190|.	9|.	0.38643|0.25751	T|T	0.18|0.34	.|.	5.9863|5.9863	0.19436|0.19436	0.236:0.0:0.764:0.0|0.236:0.0:0.764:0.0	.|.	595;1203|.	Q502W6-5;Q502W6|.	.;VWA3B_HUMAN|.	D|X	1203;325|614	ENSP00000417955:E1203D|.	ENSP00000351009:E325D|ENSP00000436153:E614X	E|E	+|+	3|1	2|0	VWA3B|VWA3B	98294801|98294801	0.918000|0.918000	0.31147|0.31147	0.064000|0.064000	0.19789|0.19789	0.042000|0.042000	0.13812|0.13812	1.011000|1.011000	0.29911|0.29911	0.615000|0.615000	0.30124|0.30124	0.491000|0.491000	0.48974|0.48974	GAG|GAA		0.612	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		3	9	1	0	0.150653	1	0.150653	3	9					T	98928369	G	T	98928369	3	4	369	1	0	0	0	0	1	0	0	0	17238	933	33	4	3711	4	VWA3B	2	98928369	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		98928369	144271004	3	34141											
C3orf30	152405	broad.mit.edu	37	chr3	118865903	118865903	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacccaggaacttctgagcaGactgacctcagattgtatgg	11	10	2	4			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:118865903G>A	ENST00000295622.1	+	1	907	c.867G>A	c.(865-867)caG>caA	p.Q289Q	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	289										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTTCTGAGCAGACTGACCTCA	0.493																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(865-867)caG>caA		chromosome 3 open reading frame 30							80	77	78					3																	118865903		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865903G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.867G>A	3.37:g.118865903G>A							p.Q289Q	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	907	+			289					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.867G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	2.491	-0.317495	0.05386	.	.	ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792	.	.	.	4.13	-2.38	0.06622	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	3.3096	0.2163	0.00162	0.2526:0.2565:0.23:0.2609	.	.	.	.	N	253;82;24	.	.	D	+	1	0	C3orf30	120348593	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.056000	0.11787	-0.513000	0.06496	-0.282000	0.10007	GAC		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		3	42	0	0	0	1	0	3	42					A	118865903	G	A	118865903	2	1	369	1	0	0	0	0	0	0	0	1	2220	933	33	2		2	C3orf30	3	118865903	Silent	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		118865903	79156527	4	34142											
EAF2	55840	broad.mit.edu	37	chr3	121554193	121554193	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcgggttctcaagttagggGagagtttcgagaagcagccg	16	7	1	2			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:121554193G>T	ENST00000273668.2	+	1	132	c.61G>T	c.(61-63)Gag>Tag	p.E21*	IQCB1_ENST00000349820.6_5'Flank|EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21*|EAF2_ENST00000465664.1_3'UTR|IQCB1_ENST00000310864.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	21	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	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)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAAGTTAGGGGAGAGTTTCGA	0.592																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(61-63)Gag>Tag		ELL associated factor 2							59	56	57					3																	121554193		2203	4300	6503	SO:0001587	stop_gained	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554193G>T	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.61G>T	3.37:g.121554193G>T	ENSP00000273668:p.Glu21*					EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21*	p.E21*	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	1	132	+			21			Necessary for interaction with ELL.		Q9NZ82	Nonsense_Mutation	SNP	ENST00000273668.2	37	c.61G>T	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097498	0.97281	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.95	3.12	0.35913	.	0.225801	0.44483	D	0.000449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.3226	7.8703	0.29563	0.1498:0.1339:0.7163:0.0	.	.	.	.	X	21	.	ENSP00000273668:E21X	E	+	1	0	EAF2	123036883	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.367000	0.44213	0.372000	0.24591	0.563000	0.77884	GAG		0.592	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		12	18	1	0	5.50884e-06	1	5.85314e-06	12	18					T	121554193	G	T	121554193	4	4	369	1	0	0	0	0	0	1	0	0	4876	1175	41	4	63	4	EAF2	3	121554193	Nonsense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	2688290	121554193	76468237	5	34143											
NDST3	9348	broad.mit.edu	37	chr4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattctccattgattcGtgtgaccaaatcttccaagc	5	13	3	2	rs377531754		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr4:118975673G>A	ENST00000296499.5	+	2	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 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						CCATTGATTCGTGTGACCAAA	0.358																																						ENST00000296499.5																			0				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						c.(607-609)cGt>cAt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121	124	123		608	-2.3	0.9	4		123	1,8597	1.2+/-3.3	0,1,4298	no	missense	NDST3	NM_004784.2	29	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	203/874	118975673	2,13002	2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975673G>A	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.608G>A	4.37:g.118975673G>A	ENSP00000296499:p.Arg203His					NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	1011	+			203			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.608G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393219	0.11638	2.27E-4	1.16E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46063	1.22;0.88	5.07	-2.27	0.06846	.	0.268407	0.41712	N	0.000822	T	0.16854	0.0405	N	0.03983	-0.305	0.31168	N	0.703555	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.14924	-1.0455	10	0.23891	T	0.37	.	12.0683	0.53601	0.6079:0.0:0.3921:0.0	.	203;203;203	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	H	203	ENSP00000296499:R203H;ENSP00000396625:R203H	ENSP00000296499:R203H	R	+	2	0	NDST3	119195121	0.000000	0.05858	0.900000	0.35374	0.916000	0.54674	-0.173000	0.09854	-0.434000	0.07275	-0.794000	0.03295	CGT		0.358	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		56	79	0	0	0	1	0	56	79					A	118975673	G	A	118975673	3	1	369	1	0	0	0	0	1	0	0	0	10257	1145	40	1	610	1	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		118975673	72178603	6	34144											
NIPBL	25836	broad.mit.edu	37	chr5	36961653	36961653	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcatcttccaattaTcaacaaaccactatctcaca	2	14	3	0			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:36961653T>A	ENST00000282516.8	+	5	925	c.426T>A	c.(424-426)taT>taA	p.Y142*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	142					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)			CTTCCAATTATCAACAAACCA	0.333																																						ENST00000282516.8																			0				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						c.(424-426)taT>taA		Nipped-B homolog (Drosophila)							141	138	139					5																	36961653		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36961653T>A	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.426T>A	5.37:g.36961653T>A	ENSP00000282516:p.Tyr142*					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142*	p.Y142*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		5	925	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		142					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.426T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	41	8.894576	0.98994	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.01	2.6	0.31112	.	0.086112	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0253	0.30434	0.0:0.2682:0.0:0.7318	.	.	.	.	X	142	.	ENSP00000282516:Y142X	Y	+	3	2	NIPBL	36997410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.108000	0.31123	0.340000	0.23745	0.533000	0.62120	TAT		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		35	52	0	0	0	1	0	35	52					A	36961653	T	A	36961653	4	1	369	1	0	0	0	0	0	1	0	0	10428	1442	50	5	440	5	NIPBL	5	36961653	Nonsense_Mutation	SNP	T	TCGA-P5-A730-01A-11D-A32B-08		36961653	143953607	7	34145											
GPR98	84059	broad.mit.edu	37	chr5	89924557	89924557	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caattcctcttactgtggttGatgatgatcttccagaagag	9	8	2	5			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:89924557G>A	ENST00000405460.2	+	8	1513	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	473	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				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)		TACTGTGGTTGATGATGATCT	0.478																																						ENST00000405460.2																			0				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						c.(1417-1419)Gat>Aat		G protein-coupled receptor 98							133	132	132					5																	89924557		1993	4158	6151	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89924557G>A	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.1417G>A	5.37:g.89924557G>A	ENSP00000384582:p.Asp473Asn						p.D473N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1513	+		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)	473			Calx-beta 4.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1417G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	1.246	-0.619870	0.03636	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34275	1.37	5.78	-6.25	0.02039	.	0.837062	0.11523	N	0.555506	T	0.15912	0.0383	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.19289	-1.0310	10	0.32370	T	0.25	.	12.1186	0.53880	0.3491:0.0998:0.5511:0.0	.	473	Q8WXG9	GPR98_HUMAN	N	473	ENSP00000384582:D473N	ENSP00000296619:D473N	D	+	1	0	GPR98	89960313	0.000000	0.05858	0.012000	0.15200	0.092000	0.18411	0.020000	0.13466	-1.177000	0.02744	-0.355000	0.07637	GAT		0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		20	55	0	0	0	1	0	20	55					A	89924557	G	A	89924557	3	1	369	1	0	0	0	0	1	0	0	0	6721	1290	45	2	1447	2	GPR98	5	89924557	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	52962904	89924557	90990703	8	34146											
SYNPO	11346	broad.mit.edu	37	chr5	150036401	150036401	+	IGR	DEL	C	C	-													tgccgggggcagccttcgcgCccatcccgcggagcccgttg							TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:150036401delC	ENST00000394243.1	+	0	7063				SYNPO_ENST00000307662.4_Frame_Shift_Del_p.P822fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin						positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTTCGCGCCCATCCCGCG	0.821																																						ENST00000307662.4																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2464-2466)ccfs		synaptopodin							2	2	2					5																	150036401		1495	3265	4760	SO:0001628	intergenic_variant	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150036401delC	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078		5.37:g.150036401delC							p.P822fs	NM_007286.5	NP_009217.3	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2993	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	878			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Del	DEL	ENST00000394243.1	37	c.2464delC	CCDS54937.1																																																																																				0.821	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		2	4						2	4	---	---	---	---	-	150036401	C	-	150036401	6	5	369	0	1	1	0	1	0	0	0	0	15453	739	26	0		0	SYNPO	5	150036401	IGR	DEL	C	TCGA-P5-A730-01A-11D-A32B-08	60111844	150036401	30878859	9	34147											
DDX41	51428	broad.mit.edu	37	chr5	176940447	176940447	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaagttctgaatcttcttCggcatggtggcactgaagag	12	8	3	3	rs144382614		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:176940447C>T	ENST00000507955.1	-	11	1660	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	379	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			GAATCTTCTTCGGCATGGTGG	0.617																																						ENST00000507955.1																			0											c.(1135-1137)ccG>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41		C		0,4406		0,0,2203	136	144	141		1137	-5.7	0.8	5	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX41	NM_016222.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		379/623	176940447	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940447C>T	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.1137G>A	5.37:g.176940447C>T							p.P379P	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		11	1660	-	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)	379			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	ENST00000507955.1	37	c.1137G>A	CCDS4427.1																																																																																				0.617	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		81	130	0	0	0	1	0	81	130					T	176940447	C	T	176940447	2	4	369	1	0	0	0	0	0	0	0	1	4361	871	31	1		1	DDX41	5	176940447	Silent	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	26904046	176940447	3974813	10	34148											
LRRC16A	55604	broad.mit.edu	37	chr6	25450191	25450191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtctccaggcgctgtgggAcagccagaccgtggctgagc	15	12	1	2	rs565861368		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:25450191A>G	ENST00000329474.6	+	6	805	c.437A>G	c.(436-438)gAc>gGc	p.D146G	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	146					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						GCGCTGTGGGACAGCCAGACC	0.498													A|||	1	0.000199681	0.0	0.0	5008	,	,		16599	0.0		0.0	False		,,,				2504	0.001					ENST00000329474.6																			0				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						c.(436-438)gAc>gGc		leucine rich repeat containing 16A							41	42	42					6																	25450191		1861	4096	5957	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450191A>G	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.437A>G	6.37:g.25450191A>G	ENSP00000331983:p.Asp146Gly					LRRC16A_ENST00000377969.3_5'UTR	p.D146G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			6	805	+			146					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.437A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650557	0.87958	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.15487	2.42	5.55	5.55	0.83447	.	0.125321	0.53938	D	0.000042	T	0.24624	0.0597	L	0.59436	1.845	0.80722	D	1	D;D;D	0.59357	0.985;0.968;0.981	P;P;P	0.58266	0.836;0.585;0.76	T	0.00790	-1.1565	10	0.51188	T	0.08	.	15.9844	0.80138	1.0:0.0:0.0:0.0	.	146;146;146	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	G	146	ENSP00000331983:D146G	ENSP00000331983:D146G	D	+	2	0	LRRC16A	25558170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.278000	0.89899	2.233000	0.73108	0.533000	0.62120	GAC		0.498	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		14	16	0	0	0	1	0	14	16					G	25450191	A	G	25450191	3	3	369	1	0	0	0	0	1	0	0	0	8971	275	10	3	459	3	LRRC16A	6	25450191	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08		25450191	145664876	11	34149											
TNFAIP3	7128	broad.mit.edu	37	chr6	138195987	138195987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgtcctcaggtgacGgcaattgcctcatgcatgcc	9	14	3	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:138195987G>A	ENST00000237289.4	+	3	367	c.301G>A	c.(301-303)Ggc>Agc	p.G101S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	101	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|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 interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.G101fs*38(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCAGGTGACGGCAATTGCCT	0.488			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		26	Whole gene deletion(25)|Complex - frameshift(1)	p.0?(25)|p.G101fs*38(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(301-303)Ggc>Agc		tumor necrosis factor, alpha-induced protein 3							87	68	75					6																	138195987		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138195987G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.301G>A	6.37:g.138195987G>A	ENSP00000237289:p.Gly101Ser						p.G101S	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	3	367	+	Breast(32;0.135)|Colorectal(23;0.24)		101			OTU.|TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.301G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693217	0.96793	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.69685	-0.42;-0.42	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85512	0.1198	10	0.87932	D	0	-5.1562	18.5941	0.91224	0.0:0.0:1.0:0.0	.	101	P21580	TNAP3_HUMAN	S	101	ENSP00000401562:G101S;ENSP00000237289:G101S	ENSP00000237289:G101S	G	+	1	0	TNFAIP3	138237680	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	8.830000	0.92063	2.819000	0.97034	0.655000	0.94253	GGC		0.488	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			3	58	0	0	0	1	0	3	58					A	138195987	G	A	138195987	3	1	369	1	0	0	0	0	1	0	0	0	16271	1116	39	1	307	1	TNFAIP3	6	138195987	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	112745796	138195987	32919080	12	34150											
BUD31	8896	broad.mit.edu	37	chr7	99015057	99015058	+	Frame_Shift_Del	DEL	TA	TA	-													ccatctttttgacagaactcTatgaatattgtattaaagaa							TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99015057_99015058delTA	ENST00000403633.2	+	5	752_753	c.223_224delTA	c.(223-225)tatfs	p.Y75fs	PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	75				YEYCI -> LDICY (in Ref. 1; AAA20008). {ECO:0000305}.	regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GACAGAACTCTATGAATATTGT	0.436																																						ENST00000403633.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4						c.(223-225)tfs		BUD31 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99015057_99015058delTA	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"G10 maternal transcript homolog (Xenopus laevis)", "functional spliceosome-associated protein 17"	603477	"BUD31 homolog (yeast)"			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.223_224delTA	7.37:g.99015057_99015058delTA	ENSP00000386023:p.Tyr75fs					PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs|BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs	p.Y75fs			P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	752_753	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		75	YEYCI -> LDICY (in Ref. 1; AAA20008).				A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Frame_Shift_Del	DEL	ENST00000403633.2	37	c.223_224delTA	CCDS5663.1																																																																																				0.436	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		14	37						14	37	---	---	---	---	-	99015058	TA	-	99015057	7	5	369	1	0	1	0	1	0	0	0	0	1574	1522	53	0	233	0	BUD31	7	99015057	Frame_Shift_Del	DEL	TA	TCGA-P5-A730-01A-11D-A32B-08		99015057	60123606	13	34151											
MCM7	4176	broad.mit.edu	37	chr7	99697010	99697010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatgtaaacgtccaggAcatctttatttaccacctaa	5	11	2	0			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99697010A>C	ENST00000303887.5	-	4	938	c.293T>G	c.(292-294)gTc>gGc	p.V98G	AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.V98G|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000421755.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	98					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACGTCCAGGACATCTTTATT	0.488																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(292-294)gTc>gGc		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						53	58	56					7																	99697010		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99697010A>C		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.293T>G	7.37:g.99697010A>C	ENSP00000307288:p.Val98Gly					MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.V98G	p.V98G	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			4	938	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		98					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.293T>G	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454784	0.26161	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483	T;T	0.13778	2.56;3.93	4.57	4.57	0.56435	Nucleic acid-binding, OB-fold-like (1);	0.129757	0.50627	D	0.000106	T	0.16854	0.0405	M	0.78801	2.425	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05869	-1.0859	10	0.48119	T	0.1	-0.587	6.7203	0.23327	0.8967:0.0:0.1033:0.0	.	98	P33993	MCM7_HUMAN	G	98;98;35	ENSP00000344006:V98G;ENSP00000307288:V98G	ENSP00000307288:V98G	V	-	2	0	MCM7	99534946	1.000000	0.71417	0.796000	0.32109	0.209000	0.24338	4.351000	0.59398	1.906000	0.55180	0.460000	0.39030	GTC		0.488	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			26	36	0	0	0	1	0	26	36					C	99697010	A	C	99697010	3	2	369	1	0	0	0	0	1	0	0	0	9392	275	10	5	1914	5	MCM7	7	99697010	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08	681953	99697010	59441653	14	34152											
MDFIC	29969	broad.mit.edu	37	chr7	114655883	114655883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacgagatgggggatgattGtaactgcccttgtgatatgg	15	5	0	4			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:114655883G>T	ENST00000393486.1	+	5	1225	c.635G>T	c.(634-636)tGt>tTt	p.C212F	MDFIC_ENST00000257724.3_Missense_Mutation_p.C321F	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GGGGATGATTGTAACTGCCCT	0.488																																						ENST00000393486.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(634-636)tGt>tTt		MyoD family inhibitor domain containing							323	288	299					7																	114655883		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655883G>T	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.635G>T	7.37:g.114655883G>T	ENSP00000377126:p.Cys212Phe					MDFIC_ENST00000257724.3_Missense_Mutation_p.C321F	p.C212F	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN			5	1225	+			212			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.635G>T	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763626	0.89932	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.84343	0.5451	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85711	0.1319	9	0.87932	D	0	-14.8733	19.9915	0.97366	0.0:0.0:1.0:0.0	.	212	Q9P1T7	MDFIC_HUMAN	F	321;212	.	ENSP00000257724:C321F	C	+	2	0	MDFIC	114443119	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	TGT		0.488	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		26	199	1	0	3.6726e-16	1	4.02802e-16	26	199					T	114655883	G	T	114655883	3	4	369	1	0	0	0	0	1	0	0	0	9405	1377	48	4	1022	4	MDFIC	7	114655883	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	14958873	114655883	44482780	15	34153											
PAX4	5078	broad.mit.edu	37	chr7	127255074	127255074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagccgtggcttgcttcCcccaatgccctttggctcca	9	17	0	0			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:127255074C>T	ENST00000341640.2	-	2	401	c.196G>A	c.(196-198)Gga>Aga	p.G66R	PAX4_ENST00000463946.1_Missense_Mutation_p.G64R|PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	74	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGCTTCCCCCAATGCCC	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(196-198)Gga>Aga		paired box 4							98	92	94					7																	127255074		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255074C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.196G>A	7.37:g.127255074C>T	ENSP00000339906:p.Gly66Arg					PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R	p.G66R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	401	-			74			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.196G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234271	0.95207	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99745	-6.61;-6.61;-6.61	5.63	5.63	0.86233	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.91920	3.255	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	0.97352	0.9964	10	0.87932	D	0	.	17.1647	0.86812	0.0:1.0:0.0:0.0	.	66;64;74;64	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	R	66;74;74;64	ENSP00000339906:G66R;ENSP00000344297:G74R;ENSP00000451923:G64R	ENSP00000344297:G74R	G	-	1	0	PAX4	127042310	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.684000	0.84104	2.636000	0.89361	0.655000	0.94253	GGA		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			7	70	0	0	0	1	0	7	70					T	127255074	C	T	127255074	3	4	369	1	0	0	0	0	1	0	0	0	11481	632	22	2	867	2	PAX4	7	127255074	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	12599191	127255074	31883589	16	34154											
PNMA2	10687	broad.mit.edu	37	chr8	26365638	26365638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaggtccagggcagggcCccgcaggctttccgccagcc	14	16	0	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:26365638C>T	ENST00000522362.2	-	3	1528	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	212					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		agggcagggccccgcaggctt	0.542																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(634-636)Ggc>Agc		paraneoplastic Ma antigen 2							83	85	85					8																	26365638		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365638C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.634G>A	8.37:g.26365638C>T	ENSP00000429344:p.Gly212Ser						p.G212S	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1528	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	212					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.634G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750624	0.49257	.	.	ENSG00000240694	ENST00000522362	T	0.40476	1.03	4.22	3.33	0.38152	Retrotransposon gag protein (1);	.	.	.	.	T	0.61689	0.2367	M	0.80332	2.49	0.21020	N	0.999806	D	0.69078	0.997	D	0.63488	0.915	T	0.51718	-0.8670	9	0.72032	D	0.01	-15.3465	10.163	0.42864	0.0:0.7977:0.2023:0.0	.	212	Q9UL42	PNMA2_HUMAN	S	212	ENSP00000429344:G212S	ENSP00000429344:G212S	G	-	1	0	PNMA2	26421555	0.970000	0.33590	0.375000	0.26029	0.440000	0.31957	2.922000	0.48860	1.339000	0.45563	0.655000	0.94253	GGC		0.542	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		6	100	0	0	0	1	0	6	100					T	26365638	C	T	26365638	3	4	369	1	0	0	0	0	1	0	0	0	12154	623	22	2	464	2	PNMA2	8	26365638	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		26365638	119998384	17	34155											
MAK16	84549	broad.mit.edu	37	chr8	33346581	33346581	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttactggccccgtttcattCgacacaaatgtaagcagaga	8	10	1	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:33346581C>T	ENST00000360128.6	+	5	773	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	106						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CCGTTTCATTCGACACAAATG	0.373																																						ENST00000360128.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						c.(316-318)Cga>Tga		MAK16 homolog (S. cerevisiae)							116	113	114					8																	33346581		2203	4300	6503	SO:0001587	stop_gained	84549					nucleolus		g.chr8:33346581C>T	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"RNA binding motif (RRM) containing"	13703	protein-coding gene	gene with protein product			"RNA binding motif protein 13"	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.316C>T	8.37:g.33346581C>T	ENSP00000353246:p.Arg106*					TTI2_ENST00000519356.1_Intron	p.R106*	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN			5	773	+			106					B2RB44|Q5U5T1|Q86UC4|Q96SY6	Nonsense_Mutation	SNP	ENST00000360128.6	37	c.316C>T	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	C	39	7.602337	0.98384	.	.	ENSG00000198042	ENST00000360128	.	.	.	6.04	3.15	0.36227	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-4.303	14.882	0.70540	0.4904:0.5096:0.0:0.0	.	.	.	.	X	106	.	ENSP00000353246:R106X	R	+	1	2	MAK16	33466123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.294000	0.33365	0.857000	0.35407	0.561000	0.74099	CGA		0.373	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509		26	48	0	0	0	1	0	26	48					T	33346581	C	T	33346581	4	4	369	1	0	0	0	0	0	1	0	0	9198	876	31	1	334	1	MAK16	8	33346581	Nonsense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	6980943	33346581	113017441	18	34156											
MARCH8	220972	broad.mit.edu	37	chr10	45953818	45953818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtggagatttttcaaaaaTattctttttgcttgtttctg	7	4	3	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr10:45953818T>C	ENST00000319836.3	-	7	1494	c.745A>G	c.(745-747)Att>Gtt	p.I249V	MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V|MARCH8_ENST00000453424.2_Missense_Mutation_p.I531V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	249					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTTTCAAAAATATTCTTTTTG	0.368																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1591-1593)Att>Gtt		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							131	138	136					10																	45953818		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45953818T>C	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.745A>G	10.37:g.45953818T>C	ENSP00000317087:p.Ile249Val					MARCH8_ENST00000319836.3_Missense_Mutation_p.I249V|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V	p.I531V			Q5T0T0	MARH8_HUMAN			8	1852	-			249					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1591A>G	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.73|10.73	1.433294|1.433294	0.25813|0.25813	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769|ENST00000453424	T;T;T|.	0.11604|.	2.76;2.76;2.76|.	5.67|5.67	4.53|4.53	0.55603|0.55603	.|.	0.314376|.	0.30528|.	N|.	0.009424|.	T|T	0.50377|0.50377	0.1612|0.1612	L|L	0.44542|0.44542	1.39|1.39	0.33972|0.33972	D|D	0.646948|0.646948	B;B|.	0.25563|.	0.0;0.129|.	B;B|.	0.17098|.	0.001;0.017|.	T|T	0.59778|0.59778	-0.7390|-0.7390	10|5	0.14656|.	T|.	0.56|.	-11.9727|-11.9727	9.6829|9.6829	0.40080|0.40080	0.0:0.0822:0.0:0.9178|0.0:0.0822:0.0:0.9178	.|.	249;413|.	Q5T0T0;Q5JQ16|.	MARH8_HUMAN;.|.	V|C	249|413	ENSP00000379118:I249V;ENSP00000317087:I249V;ENSP00000379116:I249V|.	ENSP00000317087:I249V|.	I|Y	-|-	1|2	0|0	MARCH8|MARCH8	45273824|45273824	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	1.630000|1.630000	0.37081|0.37081	0.978000|0.978000	0.38470|0.38470	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.368	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		16	137	0	0	0	1	0	16	137					C	45953818	T	C	45953818	3	2	369	1	0	0	0	0	1	0	0	0	9307	1406	49	3	134	3	MARCH8	10	45953818	Missense_Mutation	SNP	T	TCGA-P5-A730-01A-11D-A32B-08		45953818	89580929	19	34157											
NLRP10	338322	broad.mit.edu	37	chr11	7981342	7981342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtccatgactcaagctgCttttgacagaaaataaattc	7	8	1	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:7981342C>T	ENST00000328600.2	-	2	1978	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	606					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCAAGCTGCTTTTGACAGA	0.368																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1816-1818)aGc>aAc		NLR family, pyrin domain containing 10							84	79	81					11																	7981342		2200	4295	6495	SO:0001583	missense	338322						ATP binding	g.chr11:7981342C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1817G>A	11.37:g.7981342C>T	ENSP00000327763:p.Ser606Asn						p.S606N	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1978	-			606					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1817G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619805	0.28801	.	.	ENSG00000182261	ENST00000328600	D	0.87966	-2.32	3.25	-1.02	0.10135	.	0.670921	0.12387	N	0.473396	T	0.71350	0.3329	N	0.19112	0.55	0.18873	N	0.999986	B	0.06786	0.001	B	0.04013	0.001	T	0.54682	-0.8257	10	0.27785	T	0.31	.	2.3448	0.04269	0.1191:0.3832:0.3246:0.1731	.	606	Q86W26	NAL10_HUMAN	N	606	ENSP00000327763:S606N	ENSP00000327763:S606N	S	-	2	0	NLRP10	7937918	0.009000	0.17119	0.708000	0.30435	0.491000	0.33493	-0.393000	0.07305	-0.178000	0.10672	-0.256000	0.11100	AGC		0.368	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		23	40	0	0	0	1	0	23	40					T	7981342	C	T	7981342	3	4	369	1	0	0	0	0	1	0	0	0	10472	797	28	2	154	2	NLRP10	11	7981342	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		7981342	127025174	20	34158											
KIF18A	81930	broad.mit.edu	37	chr11	28098686	28098686	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtctaatttcttctcgattCtggaacaagcagttcaggat	8	8	5	0			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:28098686C>G	ENST00000263181.6	-	10	1583	c.1293G>C	c.(1291-1293)caG>caC	p.Q431H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	431					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						CTTCTCGATTCTGGAACAAGC	0.303																																						ENST00000263181.6																			0				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						c.(1291-1293)caG>caC		kinesin family member 18A							117	117	117					11																	28098686		2202	4293	6495	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28098686C>G	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.1293G>C	11.37:g.28098686C>G	ENSP00000263181:p.Gln431His						p.Q431H	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			10	1583	-			431					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1293G>C	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896698	0.52121	.	.	ENSG00000121621	ENST00000263181	T	0.73897	-0.79	5.91	3.99	0.46301	.	0.225560	0.47093	D	0.000257	T	0.68366	0.2993	L	0.57536	1.79	0.27933	N	0.937795	P	0.46706	0.883	P	0.44811	0.461	T	0.63079	-0.6717	10	0.40728	T	0.16	.	4.3658	0.11223	0.0:0.5189:0.1635:0.3176	.	431	Q8NI77	KI18A_HUMAN	H	431	ENSP00000263181:Q431H	ENSP00000263181:Q431H	Q	-	3	2	KIF18A	28055262	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	0.290000	0.18975	0.779000	0.33543	0.650000	0.86243	CAG		0.303	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		5	79	0	0	0	1	0	5	79					G	28098686	C	G	28098686	3	3	369	1	0	0	0	0	1	0	0	0	8280	912	32	4	1435	4	KIF18A	11	28098686	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	20117344	28098686	106907830	21	34159											
RAG1	5896	broad.mit.edu	37	chr11	36595107	36595107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccattgttaaaagcccacCctaagttttcaaagaaattt	5	9	1	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:36595107C>T	ENST00000299440.5	+	2	365	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	85	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGCCCACCCTAAGTTTTC	0.488									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(253-255)Cct>Tct		recombination activating gene 1							78	85	82					11																	36595107		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595107C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.253C>T	11.37:g.36595107C>T	ENSP00000299440:p.Pro85Ser						p.P85S	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	365	+	all_lung(20;0.226)	all_hematologic(20;0.107)	85			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.253C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	0.490	-0.875899	0.02550	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.37584	1.19;1.19	6.14	2.87	0.33458	.	0.352176	0.30093	N	0.010440	T	0.20618	0.0496	N	0.16708	0.43	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.14117	-1.0484	10	0.45353	T	0.12	.	8.3181	0.32113	0.1953:0.6537:0.0:0.1511	.	85	P15918	RAG1_HUMAN	S	85	ENSP00000434610:P85S;ENSP00000299440:P85S	ENSP00000299440:P85S	P	+	1	0	RAG1	36551683	0.000000	0.05858	0.821000	0.32701	0.054000	0.15201	0.483000	0.22292	1.460000	0.47911	0.650000	0.86243	CCT		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		23	56	0	0	0	1	0	23	56					T	36595107	C	T	36595107	3	4	369	1	0	0	0	0	1	0	0	0	13003	623	22	2	255	2	RAG1	11	36595107	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	8496421	36595107	98411409	22	34160											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350735	120350735	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcgttcaggaagactGgcaacatttcccaagataca	10	9	1	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:120350735G>A	ENST00000397843.2	+	38	3999	c.3833G>A	c.(3832-3834)tGg>tAg	p.W1278*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1278					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)		CAGGAAGACTGGCAACATTTC	0.463			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3832-3834)tGg>tAg		Rho guanine nucleotide exchange factor (GEF) 12							133	123	126					11																	120350735		1885	4113	5998	SO:0001587	stop_gained	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120350735G>A	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.3833G>A	11.37:g.120350735G>A	ENSP00000380942:p.Trp1278*					ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175*	p.W1278*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	38	3999	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1278					O15086|Q6P526	Nonsense_Mutation	SNP	ENST00000397843.2	37	c.3833G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	45	11.333689	0.99547	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	5.74	5.74	0.90152	.	0.000000	0.46442	D	0.000287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4798	14.743	0.69469	0.0:0.0:0.8555:0.1445	.	.	.	.	X	1278;1259;1175	.	ENSP00000349056:W1259X	W	+	2	0	ARHGEF12	119855945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.408000	0.59761	2.712000	0.92718	0.650000	0.86243	TGG		0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		30	100	0	0	0	1	0	30	100					A	120350735	G	A	120350735	4	1	369	1	0	0	0	0	0	1	0	0	897	1357	47	2	3983	2	ARHGEF12	11	120350735	Nonsense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	83755628	120350735	14655781	23	34161											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			25	34	0	0	0	1	0	25	34					T	90631838	C	T	90631838	3	4	369	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		90631838	11899554	24	34162											
ZADH2	284273	broad.mit.edu	37	chr18	72913697	72913697	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggtagccagagataaaccCtattactatcaagcgccctt	7	11	1	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr18:72913697C>G	ENST00000322342.3	-	2	1097	c.808G>C	c.(808-810)Ggg>Cgg	p.G270R	ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	270						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GAGATAAACCCTATTACTATC	0.512																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(808-810)Ggg>Cgg		zinc binding alcohol dehydrogenase domain containing 2							93	82	86					18																	72913697		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913697C>G	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.808G>C	18.37:g.72913697C>G	ENSP00000323678:p.Gly270Arg					ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R	p.G270R	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	1097	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	270					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.808G>C	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386675	0.82902	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.11495	2.77;2.77	5.92	5.05	0.67936	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	H	0.98238	4.18	0.42510	D	0.99296	D	0.89917	1.0	D	0.97110	1.0	T	0.59920	-0.7363	10	0.87932	D	0	-10.3923	13.5648	0.61810	0.0:0.9283:0.0:0.0717	.	270	Q8N4Q0	ZADH2_HUMAN	R	270;147	ENSP00000323678:G270R;ENSP00000440111:G147R	ENSP00000323678:G270R	G	-	1	0	ZADH2	71042685	1.000000	0.71417	0.648000	0.29521	0.970000	0.65996	5.887000	0.69751	-0.619000	0.05648	-0.347000	0.07816	GGG		0.512	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		23	43	0	0	0	1	0	23	43					G	72913697	C	G	72913697	3	3	369	1	0	0	0	0	1	0	0	0	17508	681	24	4	329	4	ZADH2	18	72913697	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		72913697	5163551	25	34163											
KIF5C	3800	broad.mit.edu	37	chr2	149679749	149679749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtgctacctcccaacaCgacccaagagcaggtttaca	8	14	0	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:149679749C>T	ENST00000435030.1	+	2	538	c.170C>T	c.(169-171)aCg>aTg	p.T57M				O60282	KIF5C_HUMAN	kinesin family member 5C	57	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		CCTCCCAACACGACCCAAGAG	0.408																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(169-171)aCg>aTg		kinesin family member 5C							95	94	94					2																	149679749		1888	4130	6018	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149679749C>T	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.170C>T	2.37:g.149679749C>T	ENSP00000393379:p.Thr57Met						p.T57M			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	2	538	+			57			Kinesin-motor.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.170C>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360585	0.82353	.	.	ENSG00000168280	ENST00000451033;ENST00000435030	T	0.73363	-0.74	5.28	5.28	0.74379	Kinesin, motor domain (4);	.	.	.	.	D	0.86830	0.6027	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88186	0.2874	8	0.87932	D	0	.	17.8536	0.88755	0.0:1.0:0.0:0.0	.	57	O60282	KIF5C_HUMAN	M	57	ENSP00000393379:T57M	ENSP00000393379:T57M	T	+	2	0	KIF5C	149396219	1.000000	0.71417	0.991000	0.47740	0.778000	0.44026	7.301000	0.78850	2.736000	0.93811	0.655000	0.94253	ACG		0.408	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		7	20	0	0	0	1	0	7	20					T	149679749	C	T	149679749	3	4	370	1	0	0	0	0	1	0	0	0	8307	536	19	1	176	1	KIF5C	2	149679749	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		149679749	93519624	1	34164											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	38	0	0	0	1	0	19	38					T	209113112	C	T	209113112	3	4	370	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	59433363	209113112	34086261	2	34165											
ITPR1	3708	broad.mit.edu	37	chr3	4829646	4829646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagattgtcagattagacCgaacaatggaacagatagtc	9	8	1	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:4829646C>T	ENST00000443694.2	+	49	6586	c.6586C>T	c.(6586-6588)Cga>Tga	p.R2196*	ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					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)	CAGATTAGACCGAACAATGGA	0.388																																						ENST00000302640.8																			0				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						c.(6586-6588)Cga>Tga		inositol 1,4,5-trisphosphate receptor, type 1							72	64	67					3																	4829646		1876	4115	5991	SO:0001587	stop_gained	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4829646C>T	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.6586C>T	3.37:g.4829646C>T	ENSP00000401671:p.Arg2196*					ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.R2196*	p.R2196*	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	51	6936	+			2211					E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.6586C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	47	13.686002	0.99757	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6282	0.76878	0.1472:0.8528:0.0:0.0	.	.	.	.	X	2211;2196;2196;2163;657;2163;2148;2196	.	ENSP00000306253:R2196X	R	+	1	2	ITPR1	4804646	1.000000	0.71417	0.994000	0.49952	0.074000	0.17049	3.231000	0.51294	1.217000	0.43442	0.561000	0.74099	CGA		0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	10	0	0	0	1	0	3	10					T	4829646	C	T	4829646	4	4	370	1	0	0	0	0	0	1	0	0	7920	644	23	1	6829	1	ITPR1	3	4829646	Nonsense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		4829646	193192784	3	34166											
STAB1	23166	broad.mit.edu	37	chr3	52539130	52539130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactggcctgcggtggcagGccccctctgggacccctggg	15	16	2	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:52539130G>A	ENST00000321725.6	+	13	1565	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	497					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)		GCGGTGGCAGGCCCCCTCTGG	0.607																																						ENST00000321725.6																			0				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						c.(1489-1491)Gcc>Acc		stabilin 1							70	78	76					3																	52539130		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539130G>A	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.1489G>A	3.37:g.52539130G>A	ENSP00000312946:p.Ala497Thr						p.A497T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	13	1565	+			497					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1489G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311361	0.10789	.	.	ENSG00000010327	ENST00000321725	T	0.72167	-0.63	5.46	2.67	0.31697	FAS1 domain (3);	0.485872	0.21330	N	0.076311	T	0.45236	0.1332	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.23404	-1.0189	10	0.21014	T	0.42	.	7.7599	0.28946	0.0:0.5986:0.3159:0.0855	.	497;497	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	497	ENSP00000312946:A497T	ENSP00000312946:A497T	A	+	1	0	STAB1	52514170	0.013000	0.17824	0.119000	0.21687	0.546000	0.35178	0.893000	0.28336	0.277000	0.22141	-0.776000	0.03382	GCC		0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		30	44	0	0	0	1	0	30	44					A	52539130	G	A	52539130	3	1	370	1	0	0	0	0	1	0	0	0	15236	1203	42	2	1539	2	STAB1	3	52539130	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	47709484	52539130	145483300	4	34167											
CLDND1	56650	broad.mit.edu	37	chr3	98235544	98235544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattaaggtgtactctttccGgttggtgtgagcagcccaga	12	9	1	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:98235544G>A	ENST00000503004.1	-	5	1600	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	241						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TACTCTTTCCGGTTGGTGTGA	0.428																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(721-723)Cgg>Tgg		claudin domain containing 1							112	95	101					3																	98235544		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98235544G>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.721C>T	3.37:g.98235544G>A	ENSP00000421226:p.Arg241Trp					CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W|CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W	p.R241W			Q9NY35	CLDN1_HUMAN			5	1600	-			241					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.721C>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134016	0.56828	.	.	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452	T;T;T;T;T;T;T;T;T;T;T	0.35236	1.69;1.67;1.69;1.69;1.69;1.69;1.69;1.36;1.69;1.32;1.69	6.03	6.03	0.97812	.	0.222920	0.46758	D	0.000279	T	0.35335	0.0928	L	0.27053	0.805	0.46542	D	0.999096	D;P;D	0.56287	0.975;0.916;0.975	P;B;P	0.46339	0.513;0.165;0.513	T	0.11817	-1.0572	10	0.87932	D	0	-8.8708	18.0507	0.89347	0.0:0.0:1.0:0.0	.	241;146;241	D6RCR8;F2Z2D9;Q9NY35	.;.;CLDN1_HUMAN	W	241;264;241;241;241;241;241;146;241;219;241	ENSP00000340247:R241W;ENSP00000388457:R264W;ENSP00000377734:R241W;ENSP00000421226:R241W;ENSP00000377739:R241W;ENSP00000377735:R241W;ENSP00000423590:R241W;ENSP00000424669:R146W;ENSP00000426869:R241W;ENSP00000423732:R219W;ENSP00000425539:R241W	ENSP00000340247:R241W	R	-	1	2	CLDND1	99718234	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.514000	0.60482	2.861000	0.98227	0.655000	0.94253	CGG		0.428	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		15	33	0	0	0	1	0	15	33					A	98235544	G	A	98235544	3	1	370	1	0	0	0	0	1	0	0	0	3493	1115	39	1	44	1	CLDND1	3	98235544	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	45696414	98235544	99786886	5	34168											
C3orf15	89876	broad.mit.edu	37	chr3	119449113	119449113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaagagctgttgaggaagCgtgaagagaatcagaatgaa	13	3	1	6			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:119449113C>T	ENST00000273390.5	+	8	984	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	303						mitochondrion (GO:0005739)											GTTGAGGAAGCGTGAAGAGAA	0.428																																						ENST00000273390.5																			0											c.(907-909)Cgt>Tgt		MYCBP-associated, testis expressed 1							164	167	166					3																	119449113		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119449113C>T	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.907C>T	3.37:g.119449113C>T	ENSP00000273390:p.Arg303Cys						p.R303C	NM_033364.3	NP_203528.2					8	984	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.907C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539645	0.65085	.	.	ENSG00000183833	ENST00000273390	T	0.35421	1.31	5.2	4.33	0.51752	.	0.046933	0.85682	D	0.000000	T	0.60650	0.2285	M	0.86268	2.805	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	0.87578	0.998;0.996;0.998;0.996;0.998	T	0.65038	-0.6265	10	0.87932	D	0	-20.7372	9.0865	0.36584	0.1456:0.7801:0.0:0.0743	.	303;64;241;303;303	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	C	303	ENSP00000273390:R303C	ENSP00000273390:R303C	R	+	1	0	C3orf15	120931803	1.000000	0.71417	0.309000	0.25155	0.886000	0.51366	2.110000	0.41873	1.321000	0.45227	0.557000	0.71058	CGT		0.428	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	185	0	0	0	1	0	5	185					T	119449113	C	T	119449113	3	4	370	1	0	0	0	0	1	0	0	0	2209	768	27	1	937	1	C3orf15	3	119449113	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	21213569	119449113	78573317	6	34169											
DSP	1832	broad.mit.edu	37	chr6	7579935	7579935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggagaaggagtacgagaTtgaaaggttgagggttctac	15	4	1	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr6:7579935T>C	ENST00000379802.3	+	23	3853	c.3512T>C	c.(3511-3513)aTt>aCt	p.I1171T	DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1171	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)		GAGTACGAGATTGAAAGGTTG	0.443																																						ENST00000379802.3																			0				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						c.(3511-3513)aTt>aCt		desmoplakin							77	76	76					6																	7579935		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579935T>C	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.3512T>C	6.37:g.7579935T>C	ENSP00000369129:p.Ile1171Thr					DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3853	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1171			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3512T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781224	0.31502	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.91792	-2.91;-2.91	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000007	D	0.90717	0.7087	L	0.40543	1.245	0.44603	D	0.997571	B;D	0.63880	0.014;0.993	B;D	0.72338	0.008;0.977	D	0.88715	0.3225	10	0.13470	T	0.59	.	14.7062	0.69191	0.0:0.0:0.0:1.0	.	1218;1171	Q4LE79;P15924	.;DESP_HUMAN	T	1171	ENSP00000369129:I1171T;ENSP00000396591:I1171T	ENSP00000369129:I1171T	I	+	2	0	DSP	7524934	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.091000	0.64505	1.870000	0.54199	0.455000	0.32223	ATT		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		19	25	0	0	0	1	0	19	25					C	7579935	T	C	7579935	3	2	370	1	0	0	0	0	1	0	0	0	4781	1493	52	3	3602	3	DSP	6	7579935	Missense_Mutation	SNP	T	TCGA-P5-A731-01A-11D-A32B-08		7579935	163535132	7	34170											
TRIM24	8805	broad.mit.edu	37	chr7	138261187	138261187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccagcgttggaagccgagGaaggtaaactgactaaacca	11	10	0	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:138261187G>A	ENST00000343526.4	+	13	2299	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E			O15164	TIF1A_HUMAN	tripartite motif containing 24	695					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAAGCCGAGGAAGGTAAACT	0.378																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2083-2085)gGa>gAa		tripartite motif containing 24							108	100	103					7																	138261187		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138261187G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2084G>A	7.37:g.138261187G>A	ENSP00000340507:p.Gly695Glu					TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E	p.G695E			O15164	TIF1A_HUMAN			13	2299	+			695					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2084G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052095	0.36181	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.78816	-1.21;-1.15	6.07	6.07	0.98685	.	0.093297	0.85682	D	0.000000	T	0.63343	0.2503	N	0.11560	0.145	0.42632	D	0.993385	B;B	0.27286	0.125;0.174	B;B	0.36244	0.056;0.22	T	0.60444	-0.7262	10	0.24483	T	0.36	-19.9506	10.9589	0.47374	0.1392:0.0:0.8608:0.0	.	695;661	O15164;O15164-2	TIF1A_HUMAN;.	E	695;606;661	ENSP00000340507:G695E;ENSP00000390829:G661E	ENSP00000340507:G695E	G	+	2	0	TRIM24	137911727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.922000	0.56462	2.885000	0.99019	0.655000	0.94253	GGA		0.378	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		8	87	0	0	0	1	0	8	87					A	138261187	G	A	138261187	3	1	370	1	0	0	0	0	1	0	0	0	16495	1174	41	2	2134	2	TRIM24	7	138261187	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		138261187	20877476	8	34171											
TRPV6	55503	broad.mit.edu	37	chr7	142573433	142573433	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtccaggatctggcgagCctgcaacagaaagagaacag	13	10	1	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:142573433C>T	ENST00000359396.3	-	8	1155	c.910G>A	c.(910-912)Gct>Act	p.A304T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	304					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGGCGAGCCTGCAACAGA	0.597																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.e8-1		transient receptor potential cation channel, subfamily V, member 6							65	68	67					7																	142573433		2203	4300	6503	SO:0001630	splice_region_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573433C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.910-1G>A	7.37:g.142573433C>T							p.A304_splice	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			8	1155	-	Melanoma(164;0.059)		304					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Splice_Site	SNP	ENST00000359396.3	37	c.909_splice	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728305	0.89390	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.47869	0.83	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75085	-0.3442	10	0.30854	T	0.27	-12.3778	16.8604	0.86016	0.0:1.0:0.0:0.0	.	304	Q9H1D0	TRPV6_HUMAN	T	304;136	ENSP00000352358:A304T	ENSP00000310825:A136T	A	-	1	0	TRPV6	142283555	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.614000	0.82996	2.458000	0.83093	0.655000	0.94253	GCT		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	Missense_Mutation	4	120	0	0	0	1	0	4	120					T	142573433	C	T	142573433	5	4	370	1	0	0	0	0	0	0	1	0	16597	753	26	2	1299	2	TRPV6	7	142573433	Splice_Site	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	4312246	142573433	16565230	9	34172											
MLL3	58508	broad.mit.edu	37	chr7	152012290	152012290	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataggttccattgctgttgtCatcaatgtccttcttgttag	8	8	3	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:152012290C>A	ENST00000262189.6	-	4	741	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D175Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	175					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)										TTGCTGTTGTCATCAATGTCC	0.378																																						ENST00000355193.2																			0											c.(523-525)Gac>Tac		lysine (K)-specific methyltransferase 2C							264	230	242					7																	152012290		2202	4300	6502	SO:0001583	missense	58508							g.chr7:152012290C>A	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.523G>T	7.37:g.152012290C>A	ENSP00000262189:p.Asp175Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.D175Y	p.D175Y							4	741	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.523G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899417	0.52227	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84370	-1.84;-1.84	5.78	5.78	0.91487	.	0.138244	0.31821	N	0.007005	D	0.83903	0.5355	L	0.29908	0.895	0.80722	D	1	P	0.49961	0.93	P	0.48030	0.564	D	0.85287	0.1065	10	0.62326	D	0.03	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	175	Q8NEZ4	MLL3_HUMAN	Y	175	ENSP00000262189:D175Y;ENSP00000347325:D175Y	ENSP00000262189:D175Y	D	-	1	0	MLL3	151643223	1.000000	0.71417	0.921000	0.36526	0.991000	0.79684	2.934000	0.48956	2.734000	0.93682	0.563000	0.77884	GAC		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			79	284	1	0	1.25742e-37	1	1.36444e-37	79	284					A	152012290	C	A	152012290	3	1	370	1	0	0	0	0	1	0	0	0	9622	826	29	4	14436	4	MLL3	7	152012290	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	9438857	152012290	7126373	10	34173											
CDH17	1015	broad.mit.edu	37	chr8	95178204	95178204	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagggtcccgatactgttaCctatgaggaaggaaagaagg	13	6	0	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:95178204C>A	ENST00000027335.3	-	10	1191	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	CDH17_ENST00000441892.2_Splice_Site_p.G142V|CDH17_ENST00000450165.2_Splice_Site_p.G356V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	356	Cadherin 4. {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)			GATACTGTTACCTATGAGGAA	0.398																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.e10-1		cadherin 17, LI cadherin (liver-intestine)							51	52	52					8																	95178204		2203	4300	6503	SO:0001630	splice_region_variant	1015					integral to membrane	calcium ion binding	g.chr8:95178204C>A	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.1067-1G>T	8.37:g.95178204C>A						CDH17_ENST00000441892.2_Splice_Site_p.G142_splice|CDH17_ENST00000450165.2_Splice_Site_p.G356_splice	p.G356_splice	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1191	-	Breast(36;4.65e-06)		356			Cadherin 4.		Q15336|Q2M2E0	Splice_Site	SNP	ENST00000027335.3	37	c.1066_splice	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223645	0.58668	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.69175	-0.38;-0.38;-0.38	5.62	4.74	0.60224	Cadherin (3);Cadherin-like (1);	0.123572	0.36628	N	0.002488	D	0.85936	0.5813	H	0.94847	3.59	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.982	D	0.89538	0.3790	10	0.87932	D	0	.	13.6647	0.62387	0.1558:0.8442:0.0:0.0	.	142;356	E7EN24;Q12864	.;CAD17_HUMAN	V	356;142;356	ENSP00000027335:G356V;ENSP00000392811:G142V;ENSP00000401468:G356V	ENSP00000027335:G356V	G	-	2	0	CDH17	95247380	0.973000	0.33851	0.711000	0.30485	0.018000	0.09664	2.384000	0.44362	1.341000	0.45600	0.561000	0.74099	GGT		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	Missense_Mutation	9	19	1	0	0.000673444	1	0.000700932	9	19					A	95178204	C	A	95178204	5	1	370	1	0	0	0	0	0	0	1	0	3102	521	18	4	1467	4	CDH17	8	95178204	Splice_Site	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		95178204	51185818	11	34174											
OXR1	55074	broad.mit.edu	37	chr8	107704967	107704967	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaaaagaatcctgatgtCcatccaacagaagcaactcc	5	11	0	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:107704967C>T	ENST00000442977.2	+	6	639	c.540C>T	c.(538-540)gtC>gtT	p.V180V	OXR1_ENST00000445937.1_Silent_p.V179V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000517566.2_Silent_p.V179V	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	180					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)			ATCCTGATGTCCATCCAACAG	0.338																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(535-537)gtC>gtT		oxidation resistance 1							64	62	63					8																	107704967		2203	4300	6503	SO:0001819	synonymous_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704967C>T	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.540C>T	8.37:g.107704967C>T						OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000517566.2_Silent_p.V179V|OXR1_ENST00000442977.2_Silent_p.V180V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000452423.2_5'UTR	p.V179V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	798	+			180					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	c.537C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	8.311	0.822037	0.16678	.	.	ENSG00000164830	ENST00000517455	.	.	.	5.26	0.174	0.15040	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	-3.5456	1.5611	0.02595	0.1175:0.3721:0.2301:0.2803	.	.	.	.	F	96	.	.	S	+	2	0	OXR1	107774143	0.031000	0.19500	0.988000	0.46212	0.904000	0.53231	-0.279000	0.08479	-0.030000	0.13804	0.467000	0.42956	TCC		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		14	35	0	0	0	1	0	14	35					T	107704967	C	T	107704967	2	4	370	1	0	0	0	0	0	0	0	1	11334	842	30	2		2	OXR1	8	107704967	Silent	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	12526763	107704967	38659055	12	34175											
TMEFF1	8577	broad.mit.edu	37	chr9	103338864	103338864	+	Frame_Shift_Del	DEL	G	G	-													ggtcattttacttcagatacGtcatccagaatggtttaaac					rs201911679		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:103338864delG	ENST00000374879.4	+	10	1557	c.1125delG	c.(1123-1125)acgfs	p.T375fs	TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs|MURC_ENST00000307584.5_5'Flank	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	375					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTTCAGATACGTCATCCAGAA	0.308																																						ENST00000374879.4																			0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(1123-1125)acfs		transmembrane protein with EGF-like and two follistatin-like domains 1							153	146	149					9																	103338864		2203	4300	6503	SO:0001589	frameshift_variant	8577							g.chr9:103338864delG	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.1125delG	9.37:g.103338864delG	ENSP00000364013:p.Thr375fs					TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs	p.T375fs	NM_003692.4	NP_003683.2					10	1557	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Frame_Shift_Del	DEL	ENST00000374879.4	37	c.1125delG	CCDS6750.1																																																																																				0.308	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		25	77						25	77	---	---	---	---	-	103338864	G	-	103338864	7	5	370	1	0	1	0	1	0	0	0	0	16010	1132	40	0	1163	0	TMEFF1	9	103338864	Frame_Shift_Del	DEL	G	TCGA-P5-A731-01A-11D-A32B-08		103338864	37874567	13	34176											
INPP5E	56623	broad.mit.edu	37	chr9	139326361	139326361	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcacaggagggcgtccacGactgtgcgcccgccactcag	14	15	1	0	rs140255426		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:139326361G>A	ENST00000371712.3	-	7	1866	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					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)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCGTCCACGACTGTGCGCC	0.667													N|||	0	0.0	0.0	0.0	5008	,	,		8856	0.0		0.0	False		,,,				2504	0.0					ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1462-1464)gtC>gtT		inositol polyphosphate-5-phosphatase, 72 kDa		G		7,4393		0,7,2193	39	37	38		1464	-6.9	0	9	dbSNP_134	38	0,8598		0,0,4299	no	coding-synonymous	INPP5E	NM_019892.4		0,7,6492	AA,AG,GG		0.0,0.1591,0.0539		488/645	139326361	7,12991	2200	4299	6499	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139326361G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1464C>T	9.37:g.139326361G>A							p.V488V	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	7	1866	-		Myeloproliferative disorder(178;0.0511)	488					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.1464C>T	CCDS7000.1																																																																																				0.667	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		14	11	0	0	0	1	0	14	11					A	139326361	G	A	139326361	2	1	370	1	0	0	0	0	0	0	0	1	7757	1045	37	1		1	INPP5E	9	139326361	Silent	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	35987497	139326361	1887070	14	34177											
SIRT1	23411	broad.mit.edu	37	chr10	69669113	69669113	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttaccagaacagtttcataGagccatgaagtatgacaaag	8	7	1	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr10:69669113G>C	ENST00000212015.6	+	7	1324	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T|SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	424	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CAGTTTCATAGAGCCATGAAG	0.418																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1270-1272)aGa>aCa		sirtuin 1							109	101	104					10																	69669113		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69669113G>C	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1271G>C	10.37:g.69669113G>C	ENSP00000212015:p.Arg424Thr					SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T|SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T	p.R424T	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			7	1324	+			424			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1271G>C	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189155	0.57909	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.53	5.53	0.82687	.	0.048110	0.85682	N	0.000000	T	0.33990	0.0882	N	0.25957	0.775	0.54753	D	0.999989	B;B	0.12013	0.001;0.005	B;B	0.15484	0.005;0.013	T	0.06197	-1.0840	10	0.25751	T	0.34	-9.2802	19.0817	0.93185	0.0:0.0:1.0:0.0	.	121;424	B0QZ35;Q96EB6	.;SIRT1_HUMAN	T	424;129;121;121	ENSP00000212015:R424T;ENSP00000409208:R129T;ENSP00000384508:R121T;ENSP00000384063:R121T	ENSP00000212015:R424T	R	+	2	0	SIRT1	69339119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.167000	0.94773	2.587000	0.87381	0.563000	0.77884	AGA		0.418	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			41	40	0	0	0	1	0	41	40					C	69669113	G	C	69669113	3	2	370	1	0	0	0	0	1	0	0	0	14337	942	33	4	1297	4	SIRT1	10	69669113	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		69669113	65865634	15	34178											
OR52N4	390072	broad.mit.edu	37	chr11	5776137	5776137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcattcactatgaggatgCcctgcacaaacccatgtact	6	14	2	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr11:5776137C>T	ENST00000317254.3	+	1	215	c.167C>T	c.(166-168)gCc>gTc	p.A56V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	56						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(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGAGGATGCCCTGCACAAA	0.453																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(166-168)gCc>gTc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							164	166	165					11																	5776137		2127	4269	6396	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776137C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.167C>T	11.37:g.5776137C>T	ENSP00000323224:p.Ala56Val					TRIM5_ENST00000380027.1_Intron	p.A56V	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	215	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	56					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.167C>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388812	0.25118	.	.	ENSG00000181074	ENST00000317254	T	0.00333	8.07	5.93	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.298816	0.24178	N	0.040833	T	0.00241	0.0007	L	0.45051	1.395	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.39440	-0.9614	10	0.59425	D	0.04	.	9.2302	0.37432	0.0:0.5246:0.3973:0.0781	.	56	Q8NGI2	O52N4_HUMAN	V	56	ENSP00000323224:A56V	ENSP00000323224:A56V	A	+	2	0	OR52N4	5732713	0.000000	0.05858	0.750000	0.31169	0.527000	0.34593	-0.081000	0.11321	1.505000	0.48720	0.551000	0.68910	GCC		0.453	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		3	58	0	0	0	1	0	3	58					T	5776137	C	T	5776137	3	4	370	1	0	0	0	0	1	0	0	0	11129	739	26	2	169	2	OR52N4	11	5776137	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		5776137	129230379	16	34179											
LTA4H	4048	broad.mit.edu	37	chr12	96400139	96400139	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attcaattgatgagaagagaGatccttcaggtctgtggcat	11	6	3	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:96400139G>A	ENST00000228740.2	-	16	1624	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F|LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|LTA4H_ENST00000548375.1_5'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	495					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TGAGAAGAGAGATCCTTCAGG	0.338																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(1483-1485)Ctc>Ttc		leukotriene A4 hydrolase							106	104	105					12																	96400139		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96400139G>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1483C>T	12.37:g.96400139G>A	ENSP00000228740:p.Leu495Phe					LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F	p.L495F	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			16	1624	-			495					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.1483C>T	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	G	8.739	0.918426	0.17982	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.37411	1.2;1.2;1.2	5.74	3.64	0.41730	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.258586	0.39909	N	0.001236	T	0.14657	0.0354	N	0.04880	-0.145	0.50039	D	0.999847	B;B;B	0.13145	0.004;0.007;0.001	B;B;B	0.11329	0.006;0.003;0.004	T	0.07829	-1.0752	10	0.14656	T	0.56	-10.2335	5.8516	0.18696	0.1054:0.0:0.6253:0.2692	.	471;471;495	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	F	495;471;471	ENSP00000228740:L495F;ENSP00000449958:L471F;ENSP00000395051:L471F	ENSP00000228740:L495F	L	-	1	0	LTA4H	94924270	0.991000	0.36638	1.000000	0.80357	0.905000	0.53344	1.290000	0.33319	1.319000	0.45190	0.561000	0.74099	CTC		0.338	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		9	19	0	0	0	1	0	9	19					A	96400139	G	A	96400139	3	1	370	1	0	0	0	0	1	0	0	0	9069	942	33	2	368	2	LTA4H	12	96400139	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		96400139	37451756	17	34180											
DDX54	79039	broad.mit.edu	37	chr12	113614883	113614883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcgtgcagggctgcAaactggtcttccatcctaga	11	10	1	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:113614883A>G	ENST00000306014.5	-	6	657	c.630T>C	c.(628-630)ttT>ttC	p.F210F	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Silent_p.F210F	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						GCAGGGCTGCAAACTGGTCTT	0.517																																						ENST00000314045.7																			0				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						c.(628-630)ttT>ttC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							150	134	140					12																	113614883		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113614883A>G	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.630T>C	12.37:g.113614883A>G						DDX54_ENST00000306014.5_Silent_p.F210F	p.F210F	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			6	657	-			210			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.630T>C	CCDS31907.1																																																																																				0.517	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		22	38	0	0	0	1	0	22	38					G	113614883	A	G	113614883	2	3	370	1	0	0	0	0	0	0	0	1	4372	127	5	3		3	DDX54	12	113614883	Silent	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	17214744	113614883	20237012	18	34181											
GPX2	2877	broad.mit.edu	37	chr14	65406518	65406519	+	Frame_Shift_Ins	INS	-	-	T													cacccccaggacggacatacINSttgagactgttcaggatctc							TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:65406518_65406519insT	ENST00000389614.5	-	2	346_347	c.260_261insA	c.(259-261)aagfs	p.K87fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	87					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GACGGACATACTTGAGACTGTT	0.52																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(259-261)atafs		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406518_65406519insT		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.261dupA	14.37:g.65406520_65406520dupT	ENSP00000374265:p.Lys87fs					CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	p.I87fs	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	346_347	-			87					Q6PJ52|Q8WWI7|Q9NRP9	Frame_Shift_Ins	INS	ENST00000389614.5	37	c.260_261insA	CCDS41964.1																																																																																				0.52	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			16	36						16	36	---	---	---	---	T	65406519	-	T	65406518	7	5	370	1	0	1	1	0	0	0	0	0	6740	564	20	0	315	0	GPX2	14	65406518	Frame_Shift_Ins	INS	-	TCGA-P5-A731-01A-11D-A32B-08		65406518	41943022	19	34182											
FUT8	2530	broad.mit.edu	37	chr14	66208905	66208905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctactattttgggggccAgaatgcccacaatcaaattg	8	10	2	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:66208905A>G	ENST00000360689.5	+	11	3232	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R	FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				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)			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)		TTTGGGGGCCAGAATGCCCAC	0.438																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1504-1506)cAg>cGg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							129	130	130					14																	66208905		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208905A>G	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.1505A>G	14.37:g.66208905A>G	ENSP00000353910:p.Gln502Arg					FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R	p.Q502R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3232	+			502			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1505A>G	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.587081	0.86851	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	6.17	6.17	0.99709	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.85197	2.74	0.80722	D	1	P;D;D	0.62365	0.666;0.991;0.991	B;D;D	0.74023	0.264;0.974;0.982	T	0.81176	-0.1052	10	0.62326	D	0.03	-15.3216	14.7743	0.69713	1.0:0.0:0.0:0.0	.	96;373;502	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	R	502;502;339;502;373;96	ENSP00000353910:Q502R;ENSP00000378087:Q502R;ENSP00000452433:Q339R;ENSP00000378086:Q502R;ENSP00000351057:Q373R;ENSP00000396770:Q96R	ENSP00000351057:Q373R	Q	+	2	0	FUT8	65278658	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CAG		0.438	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		5	137	0	0	0	1	0	5	137					G	66208905	A	G	66208905	3	3	370	1	0	0	0	0	1	0	0	0	6110	188	7	3	1638	3	FUT8	14	66208905	Missense_Mutation	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	802387	66208905	41140635	20	34183											
TLE3	7090	broad.mit.edu	37	chr15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggcgtgcctcgggatgCcggggcctgccagggcgtcg	20	14	0	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	472					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1414-1416)gGc>gAc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							55	63	60					15																	70347560		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347560C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"WD repeat domain containing"	11839	protein-coding gene	gene with protein product		600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1415G>A	15.37:g.70347560C>T	ENSP00000452871:p.Gly472Asp					TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D	p.G472D			Q04726	TLE3_HUMAN			15	2792	-			472					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1415G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567493	0.86439	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.54	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.365640	0.30193	N	0.010187	T	0.35189	0.0923	M	0.88241	2.94	0.80722	D	1	P;D;D;D;D;D;D;D	0.67145	0.904;0.969;0.996;0.969;0.992;0.969;0.985;0.982	P;P;P;P;D;P;D;P	0.67548	0.644;0.788;0.897;0.724;0.952;0.657;0.921;0.815	T	0.31081	-0.9956	10	0.59425	D	0.04	-11.2741	11.6082	0.51045	0.0:0.9116:0.0:0.0884	.	462;469;464;467;460;472;472;399	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	D	464;469;472;462;399;139	ENSP00000390007:G464D;ENSP00000394717:G469D;ENSP00000415057:G462D;ENSP00000442594:G399D	ENSP00000319233:G472D	G	-	2	0	TLE3	68134614	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.747000	0.62141	1.137000	0.42214	0.462000	0.41574	GGC		0.637	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		3	51	0	0	0	1	0	3	51					T	70347560	C	T	70347560	3	4	370	1	0	0	0	0	1	0	0	0	15937	739	26	2	927	2	TLE3	15	70347560	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		70347560	32183832	21	34184											
TMC3	342125	broad.mit.edu	37	chr15	81627192	81627192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactcttgctgctcccTgagtcaaaatgggccacgtt	9	14	2	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:81627192T>C	ENST00000359440.5	-	21	2463	c.2328A>G	c.(2326-2328)tcA>tcG	p.S776S	TMC3_ENST00000558726.1_Silent_p.S777S|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_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						TGCTGCTCCCTGAGTCAAAAT	0.607																																						ENST00000558726.1																			0				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						c.(2329-2331)tcA>tcG		transmembrane channel-like 3							133	130	131					15																	81627192		2076	4218	6294	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81627192T>C	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.2328A>G	15.37:g.81627192T>C						RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.S776S|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	p.S777S			Q7Z5M5	TMC3_HUMAN			21	2466	-			776						Silent	SNP	ENST00000359440.5	37	c.2331A>G	CCDS45324.1																																																																																				0.607	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		3	42	0	0	0	1	0	3	42					C	81627192	T	C	81627192	2	2	370	1	0	0	0	0	0	0	0	1	15983	1567	55	3		3	TMC3	15	81627192	Silent	SNP	T	TCGA-P5-A731-01A-11D-A32B-08	11279632	81627192	20904200	22	34185											
CMIP	80790	broad.mit.edu	37	chr16	81735339	81735339	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagatcatctcaaccctggaGagcacagacgtggggaagcg	13	11	2	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:81735339G>C	ENST00000537098.3	+	16	1902	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	CMIP_ENST00000539778.2_Missense_Mutation_p.E516D|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	610						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CAACCCTGGAGAGCACAGACG	0.587																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1828-1830)gaG>gaC		c-Maf inducing protein							190	198	195					16																	81735339		2173	4273	6446	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81735339G>C	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.1830G>C	16.37:g.81735339G>C	ENSP00000446100:p.Glu610Asp					CMIP_ENST00000539778.2_Missense_Mutation_p.E516D|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D	p.E610D	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			16	1902	+			576					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1830G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839383	0.51057	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09817	2.94;2.94	4.83	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.24115	0.695	0.45194	D	0.998205	P;P;P	0.49783	0.928;0.928;0.671	P;P;B	0.44518	0.452;0.452;0.073	T	0.09058	-1.0692	10	0.52906	T	0.07	.	9.6054	0.39630	0.1608:0.0:0.8392:0.0	.	457;516;610	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	D	610;516;516;423	ENSP00000446100:E610D;ENSP00000440401:E516D	ENSP00000381120:E516D	E	+	3	2	CMIP	80292840	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.301000	0.65727	2.233000	0.73108	0.313000	0.20887	GAG		0.587	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		63	114	0	0	0	1	0	63	114					C	81735339	G	C	81735339	3	2	370	1	0	0	0	0	1	0	0	0	3578	933	33	4	1914	4	CMIP	16	81735339	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		81735339	8619414	23	34186											
MYH8	4626	broad.mit.edu	37	chr17	10298604	10298604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaatctctgcatccagcGtgctctgcattgtctccacg	7	14	4	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:10298604G>A	ENST00000403437.2	-	34	4902	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	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	1603					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						TGCATCCAGCGTGCTCTGCAT	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(4807-4809)aCg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal							230	191	205					17																	10298604		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298604G>A		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.4808C>T	17.37:g.10298604G>A	ENSP00000384330:p.Thr1603Met					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T1603M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			34	4902	-			1603					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4808C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321914	0.41096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	4.85	2.83	0.33086	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76162	0.3949	M	0.80982	2.52	0.41888	D	0.990353	B	0.14012	0.009	B	0.13407	0.009	T	0.73325	-0.4018	10	0.66056	D	0.02	.	9.39	0.38367	0.0749:0.0:0.7812:0.1439	.	1603	P13535	MYH8_HUMAN	M	1603	ENSP00000384330:T1603M	ENSP00000252173:T1603M	T	-	2	0	MYH8	10239329	1.000000	0.71417	0.574000	0.28523	0.931000	0.56810	4.547000	0.60712	0.622000	0.30249	0.650000	0.86243	ACG		0.428	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		40	100	0	0	0	1	0	40	100					A	10298604	G	A	10298604	3	1	370	1	0	0	0	0	1	0	0	0	10041	1145	40	1	1033	1	MYH8	17	10298604	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		10298604	70896606	24	34187											
MRPS23	51649	broad.mit.edu	37	chr17	55918578	55918578	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgaagtttggattgaataGatcaaaagctctttgaccag	9	6	2	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:55918578G>T	ENST00000313608.8	-	3	304	c.259C>A	c.(259-261)Cta>Ata	p.L87I	MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	87					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGATTGAATAGATCAAAAGCT	0.323																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(259-261)Cta>Ata		mitochondrial ribosomal protein S23							109	112	111					17																	55918578		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55918578G>T	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.259C>A	17.37:g.55918578G>T	ENSP00000320184:p.Leu87Ile					MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			3	304	-	Breast(9;8.75e-08)		87					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.259C>A	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754629	0.69648	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.22	3.07	0.35406	Ribosomal protein S23/S25, mitochondrial (1);	0.136026	0.51477	D	0.000099	T	0.70806	0.3266	M	0.73430	2.235	0.41356	D	0.987393	D	0.89917	1.0	D	0.85130	0.997	T	0.69914	-0.5016	9	0.87932	D	0	.	6.6557	0.22986	0.0991:0.0:0.729:0.1719	.	87	Q9Y3D9	RT23_HUMAN	I	87	.	ENSP00000320184:L87I	L	-	1	2	MRPS23	53273577	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.662000	0.46766	0.477000	0.27464	-0.355000	0.07637	CTA		0.323	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		48	71	1	0	6.3237e-29	1	6.71893e-29	48	71					T	55918578	G	T	55918578	3	4	370	1	0	0	0	0	1	0	0	0	9834	933	33	4	325	4	MRPS23	17	55918578	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	45619974	55918578	25276632	25	34188											
ZNF569	148266	broad.mit.edu	37	chr19	37903535	37903535	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtgtctaacaaggtgCgacttttggctgaaagcctt	11	9	2	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:37903535C>T	ENST00000316950.6	-	6	2582	c.2025G>A	c.(2023-2025)tcG>tcA	p.S675S	ZNF569_ENST00000392150.2_Silent_p.S516S|ZNF569_ENST00000392149.2_Silent_p.S675S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					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)			TAACAAGGTGCGACTTTTGGC	0.408																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2023-2025)tcG>tcA		zinc finger protein 569							114	116	115					19																	37903535		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903535C>T	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.2025G>A	19.37:g.37903535C>T						ZNF569_ENST00000392149.2_Silent_p.S675S|ZNF569_ENST00000392150.2_Silent_p.S516S	p.S675S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2582	-			675					A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.2025G>A	CCDS12503.1																																																																																				0.408	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		49	72	0	0	0	1	0	49	72					T	37903535	C	T	37903535	2	4	370	1	0	0	0	0	0	0	0	1	17997	755	27	1		1	ZNF569	19	37903535	Silent	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		37903535	21225448	26	34189											
CEACAM6	4680	broad.mit.edu	37	chr19	42259554	42259554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcagagaccatgggacCcccctcagcccctccctgca	9	19	1	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:42259554C>T	ENST00000199764.6	+	1	226	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	3					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACCATGGGACCCCCCTCAGCC	0.612																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(7-9)cCc>cTc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							100	95	96					19																	42259554		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42259554C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.8C>T	19.37:g.42259554C>T	ENSP00000199764:p.Pro3Leu					CEA_ENST00000598976.1_Intron	p.P3L	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	1	226	+			3					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.8C>T	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010454	0.19277	.	.	ENSG00000086548	ENST00000199764	T	0.19394	2.15	2.15	-0.537	0.11872	.	.	.	.	.	T	0.16938	0.0407	L	0.57536	1.79	0.21675	N	0.999593	B	0.22604	0.072	B	0.26969	0.075	T	0.36261	-0.9755	9	0.23302	T	0.38	.	2.6477	0.04990	0.2747:0.5281:0.0:0.1971	.	3	P40199	CEAM6_HUMAN	L	3	ENSP00000199764:P3L	ENSP00000199764:P3L	P	+	2	0	CEACAM6	46951394	0.000000	0.05858	0.126000	0.21872	0.090000	0.18270	-1.163000	0.03138	-0.233000	0.09797	0.305000	0.20034	CCC		0.612	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			15	35	0	0	0	1	0	15	35					T	42259554	C	T	42259554	3	4	370	1	0	0	0	0	1	0	0	0	3196	623	22	2	10	2	CEACAM6	19	42259554	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	4356019	42259554	16869429	27	34190											
NDRG3	57446	broad.mit.edu	37	chr20	35293669	35293669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttgttatcattttggCccagtatgggtctttcgatc	9	7	2	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr20:35293669C>T	ENST00000349004.1	-	11	809	c.728G>A	c.(727-729)gGc>gAc	p.G243D	NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D|NDRG3_ENST00000373803.2_Missense_Mutation_p.G243D	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	243					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)				ATCATTTTGGCCCAGTATGGG	0.378																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(727-729)gGc>gAc		NDRG family member 3							249	252	251					20																	35293669		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35293669C>T	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.728G>A	20.37:g.35293669C>T	ENSP00000345292:p.Gly243Asp					NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D|NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000349004.1_Missense_Mutation_p.G243D	p.G243D			Q9UGV2	NDRG3_HUMAN			11	784	-		Myeloproliferative disorder(115;0.00878)	243					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.728G>A	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767177	0.49574	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.0	4.05	0.47172	.	0.048168	0.85682	D	0.000000	T	0.44582	0.1300	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	T	0.49624	-0.8920	10	0.52906	T	0.07	.	12.8181	0.57677	0.1647:0.8353:0.0:0.0	.	148;231;243	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	D	243;243;231;148;139	ENSP00000345292:G243D;ENSP00000362909:G243D;ENSP00000352703:G231D;ENSP00000362878:G148D;ENSP00000442813:G139D	ENSP00000345292:G243D	G	-	2	0	NDRG3	34727083	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	5.192000	0.65115	1.451000	0.47736	-0.188000	0.12872	GGC		0.378	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			4	201	0	0	0	1	0	4	201					T	35293669	C	T	35293669	3	4	370	1	0	0	0	0	1	0	0	0	10253	739	26	2	423	2	NDRG3	20	35293669	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		35293669	27731851	28	34191											
RTDR1	27156	broad.mit.edu	37	chr22	23401783	23401783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgcggccctcgggggCctctgccagcatggtaaggg	17	13	1	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:23401783C>T	ENST00000216036.4	-	7	1100	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		302										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(904-906)Gcc>Acc		rhabdoid tumor deletion region gene 1							79	80	80					22																	23401783		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401783C>T																												ENST00000216036.4:c.904G>A	22.37:g.23401783C>T	ENSP00000216036:p.Ala302Thr						p.A302T	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1100	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		302						Missense_Mutation	SNP	ENST00000216036.4	37	c.904G>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055289	0.36277	.	.	ENSG00000100218	ENST00000216036	T	0.50277	0.75	5.08	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.735360	0.13496	N	0.383623	T	0.31104	0.0786	L	0.34521	1.04	0.80722	D	1	P	0.43169	0.8	B	0.34180	0.177	T	0.03221	-1.1059	10	0.20519	T	0.43	-22.0375	9.7645	0.40552	0.0:0.9034:0.0:0.0966	.	302	Q9UHP6	RTDR1_HUMAN	T	302	ENSP00000216036:A302T	ENSP00000216036:A302T	A	-	1	0	RTDR1	21731783	1.000000	0.71417	0.985000	0.45067	0.218000	0.24690	1.394000	0.34509	1.286000	0.44565	0.561000	0.74099	GCC		0.642	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			34	44	0	0	0	1	0	34	44					T	23401783	C	T	23401783	3	4	370	1	0	0	0	0	1	0	0	0	13719	739	26	2	146	2	RTDR1	22	23401783	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		23401783	27902783	29	34192											
FAM47C	442444	broad.mit.edu	37	chrX	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactccggtgtccagtctcCgcccggagcctccagagact	11	16	1	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										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						GTCCAGTCTCCGCCCGGAGCC	0.647																																						ENST00000358047.3																			0				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						c.(631-633)Cgc>Tgc		family with sequence similarity 47, member C							30	31	31					X																	37027114		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027114C>T	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.631C>T	X.37:g.37027114C>T	ENSP00000367913:p.Arg211Cys						p.R211C	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	683	+			211					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.631C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	1.588	-0.529897	0.04112	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	1.03	-2.05	0.07321	.	.	.	.	.	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	9	0.49607	T	0.09	.	5.0213	0.14363	0.0:0.4935:0.0:0.5064	.	211	Q5HY64	FA47C_HUMAN	C	211	ENSP00000367913:R211C	ENSP00000367913:R211C	R	+	1	0	FAM47C	36937035	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.392000	0.02523	-0.805000	0.04404	-0.810000	0.03169	CGC		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	35	0	0	0	1	0	22	35					T	37027114	C	T	37027114	3	4	370	1	0	0	0	0	1	0	0	0	5571	652	23	1	633	1	FAM47C	23	37027114	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		37027114	118243446	30	34193											
HUWE1	10075	broad.mit.edu	37	chrX	53579402	53579402	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggatgcaggtggggaGctgagggaaatcatgctcag	17	6	3	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:53579402G>C	ENST00000342160.3	-	62	9208	c.8751C>G	c.(8749-8751)agC>agG	p.S2917R	HUWE1_ENST00000262854.6_Splice_Site_p.S2917R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2917					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGTGGGGAGCTGAGGGAAA	0.488																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.e62-1		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							49	44	46					X																	53579402		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53579402G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8751-1C>G	X.37:g.53579402G>C						HUWE1_ENST00000262854.6_Splice_Site_p.S2917_splice	p.S2917_splice			Q7Z6Z7	HUWE1_HUMAN			62	9208	-			2917					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	c.8750_splice	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.624994|2.624994	0.46840|0.46840	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.35973	.|1.28;1.28	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.642748	.|0.17050	.|N	.|0.188954	T|T	0.25568|0.25568	0.0622|0.0622	N|N	0.14661|0.14661	0.345|0.345	0.45250|0.45250	D|D	0.99825|0.99825	.|B;B	.|0.21905	.|0.022;0.062	.|B;B	.|0.23716	.|0.004;0.048	T|T	0.10405|0.10405	-1.0631|-1.0631	5|10	.|0.13470	.|T	.|0.59	.|.	18.0042|18.0042	0.89205|0.89205	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2917;2917	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|R	1951|2917	.|ENSP00000340648:S2917R;ENSP00000262854:S2917R	.|ENSP00000262854:S2917R	L|S	-|-	1|3	0|2	HUWE1|HUWE1	53596127|53596127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	2.999000|2.999000	0.49473|0.49473	2.528000|2.528000	0.85240|0.85240	0.529000|0.529000	0.55759|0.55759	CTC|AGC		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Missense_Mutation	4	18	0	0	0	1	0	4	18					C	53579402	G	C	53579402	5	2	370	1	0	0	0	0	0	0	1	0	7461	985	34	4	4461	4	HUWE1	23	53579402	Splice_Site	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	16552288	53579402	101691158	31	34194											
AGTR2	186	broad.mit.edu	37	chrX	115303787	115303787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctagcatatacatcttcaAcctcgctgtggctgatttac	6	11	3	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:115303787A>G	ENST00000371906.4	+	3	444	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	85					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TACATCTTCAACCTCGCTGTG	0.378																																						ENST00000371906.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(253-255)aAc>aGc		angiotensin II receptor, type 2							204	197	199					X																	115303787		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303787A>G	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.254A>G	X.37:g.115303787A>G	ENSP00000360973:p.Asn85Ser						p.N85S	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	444	+			85					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.254A>G	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300883	0.60195	.	.	ENSG00000180772	ENST00000371906	T	0.43688	0.94	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.67953	2.075	0.51482	D	0.999927	D	0.89917	1.0	D	0.97110	1.0	T	0.63712	-0.6575	10	0.87932	D	0	-8.7278	10.7502	0.46205	1.0:0.0:0.0:0.0	.	85	P50052	AGTR2_HUMAN	S	85	ENSP00000360973:N85S	ENSP00000360973:N85S	N	+	2	0	AGTR2	115217815	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.181000	0.77682	1.659000	0.50751	0.412000	0.27726	AAC		0.378	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		4	305	0	0	0	1	0	4	305					G	115303787	A	G	115303787	3	3	370	1	0	0	0	0	1	0	0	0	402	43	2	3	256	3	AGTR2	23	115303787	Missense_Mutation	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	61724385	115303787	39966773	32	34195											
HPRT1	3251	broad.mit.edu	37	chrX	133627577	133627577	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatgcagactttgcttTccttggtcaggcagtataat	8	8	1	1			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:133627577T>C	ENST00000298556.7	+	6	601	c.442T>C	c.(442-444)Tcc>Ccc	p.S148P	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	148					adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	GACTTTGCTTTCCTTGGTCAG	0.353																																						ENST00000298556.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(442-444)Tcc>Ccc		hypoxanthine phosphoribosyltransferase 1	Mercaptopurine(DB01033)|Thioguanine(DB00352)						189	173	178					X																	133627577		2203	4300	6503	SO:0001583	missense	3251				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chrX:133627577T>C	M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"Lesch-Nyhan syndrome"	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.442T>C	X.37:g.133627577T>C	ENSP00000298556:p.Ser148Pro					HPRT1_ENST00000462974.1_3'UTR	p.S148P	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN			6	601	+	Acute lymphoblastic leukemia(192;0.000127)		148					A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	c.442T>C	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	T	7.774	0.708098	0.15239	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99856	-7.21	5.56	4.37	0.52481	Phosphoribosyltransferase (1);	0.234633	0.42294	D	0.000738	D	0.98940	0.9640	L	0.28458	0.855	0.43857	D	0.996457	B	0.02656	0.0	B	0.04013	0.001	D	0.99981	1.2543	10	0.24483	T	0.36	-4.2241	10.2327	0.43264	0.0:0.0:0.3154:0.6846	.	148	P00492	HPRT_HUMAN	P	148	ENSP00000298556:S148P	ENSP00000298556:S148P	S	+	1	0	HPRT1	133455243	1.000000	0.71417	0.837000	0.33122	0.576000	0.36127	1.523000	0.35932	0.729000	0.32403	0.417000	0.27973	TCC		0.353	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		89	122	0	0	0	1	0	89	122					C	133627577	T	C	133627577	3	2	370	1	0	0	0	0	1	0	0	0	7338	1783	62	3	464	3	HPRT1	23	133627577	Missense_Mutation	SNP	T	TCGA-P5-A731-01A-11D-A32B-08	18323790	133627577	21642983	33	34196											
DFFA	1676	broad.mit.edu	37	chr1	10523191	10523191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggatgtggctcgccagcGcaacgtccgaggaggtctct	14	11	1	0	rs142954972	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:10523191G>A	ENST00000377038.3	-	5	774	c.707C>T	c.(706-708)gCg>gTg	p.A236V	DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	236					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)		GCTCGCCAGCGCAACGTCCGA	0.562																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(706-708)gCg>gTg		DNA fragmentation factor, 45kDa, alpha polypeptide		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	105	77	86		707,707	4.1	0	1	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	DFFA	NM_004401.2,NM_213566.1	64,64	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign,benign	236/332,236/269	10523191	8,12998	2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523191G>A	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.707C>T	1.37:g.10523191G>A	ENSP00000366237:p.Ala236Val					DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		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)	5	774	-	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)	236					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.707C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139501	0.37728	0.0	9.3E-4	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	4.14	0.48551	DNA fragmentation factor 45kDa, C-terminal (3);	0.815874	0.11656	N	0.542341	T	0.26774	0.0655	L	0.43152	1.355	0.09310	N	1	P;B	0.39601	0.68;0.133	B;B	0.27887	0.084;0.031	T	0.06716	-1.0811	9	0.39692	T	0.17	0.0079	10.8462	0.46744	0.0897:0.0:0.9103:0.0	.	236;236	O00273-2;O00273	.;DFFA_HUMAN	V	236	.	ENSP00000366235:A236V	A	-	2	0	DFFA	10445778	0.048000	0.20356	0.001000	0.08648	0.013000	0.08279	2.009000	0.40903	1.098000	0.41479	0.650000	0.86243	GCG		0.562	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		3	30	0	0	0	1	0	3	30					A	10523191	G	A	10523191	3	1	371	1	0	0	0	0	1	0	0	0	4452	1087	38	1	320	1	DFFA	1	10523191	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		10523191	238727430	1	34197											
PABPC4	8761	broad.mit.edu	37	chr1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagccagatttgaatgcaTtgtttggatgagtgggaaca	12	7	0	3	rs141368472		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473																																						ENST00000372857.3																			1	Substitution - Missense(1)	p.M582V(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1744-1746)Atg>Gtg		poly(A) binding protein, cytoplasmic 4 (inducible form)		T	VAL/MET,VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	63	61	62		1792,1705,1744	5.4	1	1	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense,missense	PABPC4	NM_001135653.1,NM_001135654.1,NM_003819.3	21,21,21	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	598/661,569/632,582/645	40027846	1,13005	2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40027846T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1744A>G	1.37:g.40027846T>C	ENSP00000361948:p.Met582Val					PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	p.M582V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		14	2536	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	582			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1744A>G	CCDS438.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891122	0.52014	2.27E-4	0.0	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.42	5.42	0.78866	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.035410	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49256	1.55	0.58432	D	0.999997	B;B;B	0.14805	0.001;0.0;0.011	B;B;B	0.20577	0.018;0.01;0.03	T	0.24905	-1.0147	10	0.49607	T	0.09	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	582;569;598	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	553;598;582;569	ENSP00000361953:M553V;ENSP00000361949:M598V;ENSP00000361948:M582V;ENSP00000361947:M569V	ENSP00000361947:M569V	M	-	1	0	PABPC4	39800433	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	8.040000	0.89188	2.055000	0.61198	0.533000	0.62120	ATG		0.473	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		25	35	0	0	0	1	0	25	35					C	40027846	T	C	40027846	3	2	371	1	0	0	0	0	1	0	0	0	11366	1493	52	3	198	3	PABPC4	1	40027846	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	29504655	40027846	209222775	2	34198											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						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)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	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.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		9	80						9	80	---	---	---	---	-	46184898	AC	-	46184897	7	5	371	1	0	1	0	1	0	0	0	0	7800	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-P5-A733-01A-11D-A32B-08	6157051	46184897	203065724	3	34199											
FAM40A	85369	broad.mit.edu	37	chr1	110585722	110585722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcagtgcacgctaggcGgctttgaggagctgcagagc	16	9	0	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:110585722G>A	ENST00000369795.3	+	9	920	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	STRIP1_ENST00000369796.1_Missense_Mutation_p.G205S	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	300					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CACGCTAGGCGGCTTTGAGGA	0.572																																						ENST00000369795.3																			0											c.(898-900)Ggc>Agc		striatin interacting protein 1							39	38	38					1																	110585722		2203	4299	6502	SO:0001583	missense	85369							g.chr1:110585722G>A	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.898G>A	1.37:g.110585722G>A	ENSP00000358810:p.Gly300Ser					STRIP1_ENST00000369796.1_Missense_Mutation_p.G205S	p.G300S	NM_033088.2	NP_149079.2					9	920	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.898G>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699306	0.96802	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.63913	-0.04;-0.07	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82550	-0.0401	10	0.56958	D	0.05	-28.1725	20.3409	0.98764	0.0:0.0:1.0:0.0	.	205;300	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	S	205;300	ENSP00000358811:G205S;ENSP00000358810:G300S	ENSP00000358810:G300S	G	+	1	0	FAM40A	110387245	1.000000	0.71417	0.973000	0.42090	0.865000	0.49528	9.441000	0.97557	2.814000	0.96858	0.655000	0.94253	GGC		0.572	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		6	10	0	0	0	1	0	6	10					A	110585722	G	A	110585722	3	1	371	1	0	0	0	0	1	0	0	0	5560	1116	39	1	932	1	FAM40A	1	110585722	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	64400825	110585722	138664899	4	34200											
NBPF9	400818	broad.mit.edu	37	chr1	144816613	144816613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgaggaagacaaagTcgactcaactctcattggct	8	10	2	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:144816613T>C	ENST00000440491.2	+	5	746	c.746T>C	c.(745-747)gTc>gCc	p.V249A	NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	507	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GAAGACAAAGTCGACTCAACT	0.443																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(745-747)gTc>gCc		neuroblastoma breakpoint family, member 9							123	106	111					1																	144816613		692	1591	2283	SO:0001583	missense	400818							g.chr1:144816613T>C		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.746T>C	1.37:g.144816613T>C	ENSP00000390934:p.Val249Ala					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR	p.V249A	NM_001037675.2	NP_001032764.1					5	746	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.746T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.267|6.267	0.417374|0.417374	0.11870|0.11870	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491	.|T;T	.|0.16897	.|2.31;2.31	0.723|0.723	-0.597|-0.597	0.11653|0.11653	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.11024|0.11024	0.0269|0.0269	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|D;B	.|0.54964	.|0.969;0.048	.|P;B	.|0.62298	.|0.9;0.016	T|T	0.09228|0.09228	-1.0684|-1.0684	4|8	.|0.30854	.|T	.|0.27	.|.	2.8955|2.8955	0.05689|0.05689	0.0:0.348:0.0:0.652|0.0:0.348:0.0:0.652	.|.	.|507;247	.|Q3BBV1;A2BGT5	.|NBPFK_HUMAN;.	P|A	248|249	.|ENSP00000342975:V249A;ENSP00000390934:V249A	.|ENSP00000342975:V249A	S|V	+|+	1|2	0|0	NBPF9|NBPF9	143527970|143527970	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	-1.059000|-1.059000	0.03479|0.03479	-0.222000|-0.222000	0.09958|0.09958	0.163000|0.163000	0.16589|0.16589	TCG|GTC		0.443	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		84	152	0	0	0	1	0	84	152					C	144816613	T	C	144816613	3	2	371	1	0	0	0	0	1	0	0	0	10199	1667	58	3	1556	3	NBPF9	1	144816613	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	34230891	144816613	104434008	5	34201											
KLHDC9	126823	broad.mit.edu	37	chr1	161070000	161070000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccacaggtttgcatcCtggactttatctaaatagtg	8	10	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:161070000C>T	ENST00000368011.4	+	4	1178	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	346										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTTTGCATCCTGGACTTTAT	0.473																																						ENST00000368011.4																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(1036-1038)Ctg>Ttg		kelch domain containing 9							169	151	157					1																	161070000		2203	4300	6503	SO:0001819	synonymous_variant	126823							g.chr1:161070000C>T	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"kelch/ankyrin repeat containing cyclin A1 interacting protein"					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.1036C>T	1.37:g.161070000C>T						KLHDC9_ENST00000392192.2_3'UTR|KLHDC9_ENST00000490724.2_3'UTR	p.L346L	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1178	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		346					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Silent	SNP	ENST00000368011.4	37	c.1036C>T	CCDS30919.1																																																																																				0.473	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		52	70	0	0	0	1	0	52	70					T	161070000	C	T	161070000	2	4	371	1	0	0	0	0	0	0	0	1	8364	680	24	2		2	KLHDC9	1	161070000	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	16253387	161070000	88180621	6	34202											
H3F3A	3020	broad.mit.edu	37	chr1	226252070	226252070	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatggctcgtacaaagcaGactgcccgcaaatcgaccgg	10	14	0	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:226252070G>A	ENST00000366813.1	+	1	393	c.18G>A	c.(16-18)caG>caA	p.Q6Q	H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q|RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Silent_p.Q6Q			P84243	H33_HUMAN	H3 histone, family 3A	6					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)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTACAAAGCAGACTGCCCGCA	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3				Dom	yes		1	1q42.12	3020	Mis	"H3 histone, family 3A"			O			glioma		0				central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(16-18)caG>caA		H3 histone, family 3A							31	33	32					1																	226252070		2202	4298	6500	SO:0001819	synonymous_variant	3020							g.chr1:226252070G>A	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.18G>A	1.37:g.226252070G>A			OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q|H3F3A_ENST00000366813.1_Silent_p.Q6Q	p.Q6Q						GBM - Glioblastoma multiforme(131;0.203)	2	139	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Silent	SNP	ENST00000366813.1	37	c.18G>A	CCDS1550.1																																																																																				0.488	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		6	28	0	0	0	1	0	6	28					A	226252070	G	A	226252070	2	1	371	1	0	0	0	0	0	0	0	1	6933	933	33	2		2	H3F3A	1	226252070	Silent	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	65182070	226252070	22998551	7	34203											
GREB1	9687	broad.mit.edu	37	chr2	11716615	11716615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattacctggtccgtaatgcAcaagggactctaaccaaagg	9	10	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:11716615A>G	ENST00000381486.2	+	5	891	c.591A>G	c.(589-591)gcA>gcG	p.A197A	GREB1_ENST00000381483.2_Silent_p.A197A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000234142.5_Silent_p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCGTAATGCACAAGGGACTC	0.488																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(589-591)gcA>gcG		growth regulation by estrogen in breast cancer 1							123	117	119					2																	11716615		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11716615A>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.591A>G	2.37:g.11716615A>G						GREB1_ENST00000234142.5_Silent_p.A197A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000381483.2_Silent_p.A197A	p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	5	891	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		197					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.591A>G	CCDS42655.1																																																																																				0.488	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		30	65	0	0	0	1	0	30	65					G	11716615	A	G	11716615	2	3	371	1	0	0	0	0	0	0	0	1	6760	146	6	3		3	GREB1	2	11716615	Silent	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		11716615	231482758	8	34204											
TRIM54	57159	broad.mit.edu	37	chr2	27505613	27505613	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggatgaacttcacagTgggtttcaagccgctgctag	14	9	2	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:27505613T>G	ENST00000380075.2	+	1	354	c.14T>G	c.(13-15)gTg>gGg	p.V5G	TRIM54_ENST00000296098.4_Missense_Mutation_p.V5G	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	5					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCACAGTGGGTTTCAAG	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(13-15)gTg>gGg		tripartite motif containing 54							161	146	151					2																	27505613		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505613T>G	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.14T>G	2.37:g.27505613T>G	ENSP00000369415:p.Val5Gly					TRIM54_ENST00000380075.2_Missense_Mutation_p.V5G	p.V5G	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	284	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		5					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.14T>G	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860865	0.91433	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.42131	1.15;0.98	5.43	5.43	0.79202	.	0.077103	0.52532	D	0.000061	T	0.39091	0.1065	N	0.08118	0	0.80722	D	1	P;D	0.56521	0.885;0.976	P;P	0.59115	0.63;0.852	T	0.40608	-0.9554	10	0.39692	T	0.17	-28.5419	13.4323	0.61062	0.0:0.0:0.0:1.0	.	5;5	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	G	5	ENSP00000369415:V5G;ENSP00000296098:V5G	ENSP00000296098:V5G	V	+	2	0	TRIM54	27359117	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	3.688000	0.54699	2.053000	0.61076	0.379000	0.24179	GTG		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		20	103	0	0	0	1	0	20	103					G	27505613	T	G	27505613	3	3	371	1	0	0	0	0	1	0	0	0	16525	1696	59	5	16	5	TRIM54	2	27505613	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	15788998	27505613	215693760	9	34205											
MGAT4A	11320	broad.mit.edu	37	chr2	99279513	99279513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaattaaataattacctctCctatgaagactactataaca	2	9	1	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:99279513C>T	ENST00000264968.3	-	4	896	c.533G>A	c.(532-534)gGa>gAa	p.G178E	MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G178E			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	178					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AATTACCTCTCCTATGAAGAC	0.294																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(532-534)gGa>gAa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							91	101	97					2																	99279513		2203	4293	6496	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99279513C>T	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.533G>A	2.37:g.99279513C>T	ENSP00000264968:p.Gly178Glu					MGAT4A_ENST00000264968.2_Missense_Mutation_p.G178E|MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E	p.G178E	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			5	846	-			178					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.533G>A	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404473	0.96051	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.71	5.71	0.89125	.	0.095238	0.64402	D	0.000001	T	0.72260	0.3438	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.978	D;D;P	0.97110	1.0;1.0;0.881	T	0.73688	-0.3904	10	0.62326	D	0.03	.	19.2094	0.93748	0.0:1.0:0.0:0.0	.	50;50;178	E9PEN2;B4E2R6;Q9UM21	.;.;MGT4A_HUMAN	E	178;50;178;178	ENSP00000377127:G178E;ENSP00000404889:G50E;ENSP00000264968:G178E;ENSP00000386841:G178E	ENSP00000264968:G178E	G	-	2	0	MGAT4A	98645945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.039000	0.70972	2.860000	0.98153	0.655000	0.94253	GGA		0.294	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		50	58	0	0	0	1	0	50	58					T	99279513	C	T	99279513	3	4	371	1	0	0	0	0	1	0	0	0	9545	855	30	2	1201	2	MGAT4A	2	99279513	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	71773900	99279513	143919860	10	34206											
DNAH7	56171	broad.mit.edu	37	chr2	196738409	196738409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgaggagttactggatttCgaccaccacctaaatattaa	7	9	0	0	rs373086090		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:196738409C>T	ENST00000312428.6	-	39	6396	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3. {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						TACTGGATTTCGACCACCACC	0.274																																						ENST00000312428.6																			0				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						c.(6295-6297)cGa>cAa		dynein, axonemal, heavy chain 7		C	GLN/ARG	1,3619		0,1,1809	64	62	63		6296	4.8	1	2		63	0,8138		0,0,4069	no	missense	DNAH7	NM_018897.2	43	0,1,5878	TT,TC,CC		0.0,0.0276,0.0085	probably-damaging	2099/4025	196738409	1,11757	1810	4069	5879	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196738409C>T	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.6296G>A	2.37:g.196738409C>T	ENSP00000311273:p.Arg2099Gln						p.R2099Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			39	6396	-			2099			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6296G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124498	0.94429	2.76E-4	0.0	ENSG00000118997	ENST00000312428	T	0.35236	1.32	4.81	4.81	0.61882	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81351	-0.0972	10	0.72032	D	0.01	.	18.0221	0.89258	0.0:1.0:0.0:0.0	.	2099	Q8WXX0	DYH7_HUMAN	Q	2099	ENSP00000311273:R2099Q	ENSP00000311273:R2099Q	R	-	2	0	DNAH7	196446654	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.444000	0.80532	2.646000	0.89796	0.585000	0.79938	CGA		0.274	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	29	0	0	0	1	0	9	29					T	196738409	C	T	196738409	3	4	371	1	0	0	0	0	1	0	0	0	4606	884	31	1	5886	1	DNAH7	2	196738409	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	97458896	196738409	46460964	11	34207											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	42	0	0	0	1	0	28	42					T	209113112	C	T	209113112	3	4	371	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	12374703	209113112	34086261	12	34208											
NEU2	4759	broad.mit.edu	37	chr2	233899291	233899291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggagtgccaggtggccGaagtcgagactggggagcag	18	10	0	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:233899291G>A	ENST00000233840.3	+	2	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	223					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCAGGTGGCCGAAGTCGAGAC	0.652																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(667-669)Gaa>Aaa		sialidase 2 (cytosolic sialidase)							53	52	52					2																	233899291		2203	4299	6502	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899291G>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.667G>A	2.37:g.233899291G>A	ENSP00000233840:p.Glu223Lys						p.E223K	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	667	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	223					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.667G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086410	0.55861	.	.	ENSG00000115488	ENST00000233840	D	0.87650	-2.28	4.91	4.03	0.46877	Neuraminidase (2);	0.000000	0.64402	D	0.000007	D	0.94079	0.8102	M	0.88775	2.98	0.41971	D	0.990755	D	0.89917	1.0	D	0.91635	0.999	D	0.95015	0.8155	10	0.87932	D	0	-16.8092	14.5055	0.67750	0.0:0.1472:0.8528:0.0	.	223	Q9Y3R4	NEUR2_HUMAN	K	223	ENSP00000233840:E223K	ENSP00000233840:E223K	E	+	1	0	NEU2	233607535	0.983000	0.35010	0.016000	0.15963	0.002000	0.02628	3.109000	0.50345	1.040000	0.40099	0.655000	0.94253	GAA		0.652	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		10	41	0	0	0	1	0	10	41					A	233899291	G	A	233899291	3	1	371	1	0	0	0	0	1	0	0	0	10342	1059	37	1	673	1	NEU2	2	233899291	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	24786179	233899291	9300082	13	34209											
DNAH12	201625	broad.mit.edu	37	chr3	57489762	57489762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcagagcttcggctattCgttccaccaaactcaagaca	7	14	1	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:57489762C>T	ENST00000351747.2	-	9	1247	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	356	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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCGGCTATTCGTTCCACCAA	0.338																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1066-1068)cGa>cAa		dynein, axonemal, heavy chain 12							99	97	98					3																	57489762		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57489762C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1067G>A	3.37:g.57489762C>T	ENSP00000295937:p.Arg356Gln					DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q|DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q	p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			9	1247	-			356			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.1067G>A		.	.	.	.	.	.	.	.	.	.	c	1.458	-0.563144	0.03939	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20881	2.19;2.04;3.71;3.18	5.39	4.52	0.55395	.	0.504438	0.19250	N	0.118944	T	0.14917	0.0360	L	0.56769	1.78	0.09310	N	1	P;P	0.48089	0.747;0.905	B;B	0.35039	0.093;0.194	T	0.18116	-1.0347	10	0.19147	T	0.46	.	5.8869	0.18886	0.1402:0.6511:0.1355:0.0732	.	356;356	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	Q	356	ENSP00000295937:R356Q;ENSP00000418137:R356Q;ENSP00000374187:R356Q;ENSP00000312554:R356Q	ENSP00000312554:R356Q	R	-	2	0	DNAH12	57464802	0.180000	0.23148	0.829000	0.32907	0.038000	0.13279	0.780000	0.26760	1.294000	0.44707	-0.119000	0.15052	CGA		0.338	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		22	33	0	0	0	1	0	22	33					T	57489762	C	T	57489762	3	4	371	1	0	0	0	0	1	0	0	0	4600	884	31	1	8458	1	DNAH12	3	57489762	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		57489762	140532668	14	34210											
KBTBD8	84541	broad.mit.edu	37	chr3	67054666	67054666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgttggacgactgtttgCgcgatgccagttgcaatgga	13	7	0	0	rs183048924	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.C399C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20296	0.001		0.0	False		,,,				2504	0.0					ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1195-1197)tgC>tgT		kelch repeat and BTB (POZ) domain containing 8							190	176	181					3																	67054666		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054666C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T						KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron	p.C399C	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1328	+		Lung NSC(201;0.0765)	425					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1197C>T	CCDS2906.2																																																																																				0.413	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		6	205	0	0	0	1	0	6	205					T	67054666	C	T	67054666	2	4	371	1	0	0	0	0	0	0	0	1	7999	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	9564904	67054666	130967764	15	34211											
TF	7018	broad.mit.edu	37	chr3	133495949	133495949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttgtttgttccggtcGgaaaccaaggaccttctgtt	9	9	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:133495949G>A	ENST00000402696.3	+	16	2414	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	TF_ENST00000264998.3_Silent_p.S516S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	643	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)	TGTTCCGGTCGGAAACCAAGG	0.433																																						ENST00000402696.3																			0				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						c.(1927-1929)tcG>tcA		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						99	87	91					3																	133495949		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133495949G>A		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.1929G>A	3.37:g.133495949G>A						TF_ENST00000264998.3_Silent_p.S516S	p.S643S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			16	2414	+			643			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1929G>A	CCDS3080.1																																																																																				0.433	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		7	49	0	0	0	1	0	7	49					A	133495949	G	A	133495949	2	1	371	1	0	0	0	0	0	0	0	1	15782	1103	39	1		1	TF	3	133495949	Silent	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	66441283	133495949	64526481	16	34212											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99339851	99339851	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgggattgtagaaaaActtatggatttactggacag	11	4	0	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:99339851A>C	ENST00000408927.3	+	10	1196	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	361					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTGTAGAAAAACTTATGGATT	0.343			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"RAP1, GTP-GDP dissociation stimulator 1"			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(1081-1083)aaA>aaC		RAP1, GTP-GDP dissociation stimulator 1							81	80	80					4																	99339851		1859	4100	5959	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99339851A>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1083A>C	4.37:g.99339851A>C	ENSP00000386153:p.Lys361Asn					RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N	p.K361N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	10	1196	+			361					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1083A>C	CCDS43253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.25|16.25	3.070317|3.070317	0.55539|0.55539	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T|.	0.70516|.	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49|.	5.67|5.67	-4.33|-4.33	0.03677|0.03677	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.052524|.	0.64402|.	D|.	0.000001|.	T|T	0.48926|0.48926	0.1527|0.1527	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999992|0.999992	B;D;D;B;B;B|.	0.61697|.	0.009;0.988;0.99;0.09;0.135;0.064|.	B;P;P;B;B;B|.	0.62491|.	0.022;0.844;0.903;0.072;0.143;0.088|.	T|T	0.46498|0.46498	-0.9187|-0.9187	10|5	0.40728|.	T|.	0.16|.	-1.2847|-1.2847	7.5397|7.5397	0.27731|0.27731	0.3987:0.2154:0.3859:0.0|0.3987:0.2154:0.3859:0.0	.|.	270;312;313;361;362;362|.	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9|.	.;.;.;GDS1_HUMAN;.;.|.	N|P	313;270;361;362;312;362|171	ENSP00000369503:K313N;ENSP00000264572:K270N;ENSP00000386153:K361N;ENSP00000407157:K362N;ENSP00000386223:K312N;ENSP00000340454:K362N|.	ENSP00000264572:K270N|.	K|T	+|+	3|1	2|0	RAP1GDS1|RAP1GDS1	99558874|99558874	0.966000|0.966000	0.33281|0.33281	0.878000|0.878000	0.34440|0.34440	0.996000|0.996000	0.88848|0.88848	0.172000|0.172000	0.16704|0.16704	-0.752000|-0.752000	0.04728|0.04728	0.533000|0.533000	0.62120|0.62120	AAA|ACT		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		19	37	0	0	0	1	0	19	37					C	99339851	A	C	99339851	3	2	371	1	0	0	0	0	1	0	0	0	13039	40	2	5	1124	5	RAP1GDS1	4	99339851	Missense_Mutation	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		99339851	91814425	17	34213											
GZMA	3001	broad.mit.edu	37	chr5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctatgacccagccacaCgcgaaggtgaccttaaactt	8	13	0	2	rs150441571	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.0					ENST00000274306.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(331-333)Cgc>Tgc		granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)		C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	123	118	120		331	2.6	0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	GZMA	NM_006144.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	111/263	54403737	7,12999	2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54403737C>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.331C>T	5.37:g.54403737C>T	ENSP00000274306:p.Arg111Cys						p.R111C	NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN			3	366	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	111			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.331C>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218927	0.39201	0.001589	0.0	ENSG00000145649	ENST00000274306	D	0.88664	-2.41	5.5	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840125	0.11103	N	0.599416	D	0.86393	0.5922	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	P	0.48304	0.573	T	0.75508	-0.3293	10	0.40728	T	0.16	.	5.8772	0.18836	0.3972:0.4552:0.0:0.1476	.	111	P12544	GRAA_HUMAN	C	111	ENSP00000274306:R111C	ENSP00000274306:R111C	R	+	1	0	GZMA	54439494	0.000000	0.05858	0.027000	0.17364	0.004000	0.04260	-0.070000	0.11523	0.870000	0.35726	0.655000	0.94253	CGC		0.443	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		11	92	0	0	0	1	0	11	92					T	54403737	C	T	54403737	3	4	371	1	0	0	0	0	1	0	0	0	6915	536	19	1	341	1	GZMA	5	54403737	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		54403737	126511523	18	34214											
ZNF366	167465	broad.mit.edu	37	chr5	71756905	71756905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaagtgttccaggctgCggtagaattggaagcccacg	12	12	0	1	rs367714370		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:71756905C>T	ENST00000318442.5	-	2	909	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	140					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)	p.R140H(1)		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)		TTCCAGGCTGCGGTAGAATTG	0.632																																						ENST00000318442.5																			1	Substitution - Missense(1)	p.R140H(1)	lung(1)	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						c.(418-420)cGc>cAc		zinc finger protein 366		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	113	127	122		419	5.9	1	5		122	1,8599	2.2+/-6.3	0,1,4299	no	missense	ZNF366	NM_152625.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	140/745	71756905	2,13004	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756905C>T	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.419G>A	5.37:g.71756905C>T	ENSP00000313158:p.Arg140His						p.R140H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	909	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	140					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.419G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788533	0.70337	2.27E-4	1.16E-4	ENSG00000178175	ENST00000318442	T	0.51071	0.72	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.39009	0.1062	L	0.34521	1.04	0.47341	D	0.999397	B	0.34329	0.449	B	0.22601	0.04	T	0.24297	-1.0164	10	0.51188	T	0.08	-61.9515	20.3207	0.98668	0.0:1.0:0.0:0.0	.	140	Q8N895	ZN366_HUMAN	H	140	ENSP00000313158:R140H	ENSP00000313158:R140H	R	-	2	0	ZNF366	71792661	0.998000	0.40836	0.997000	0.53966	0.780000	0.44128	2.672000	0.46850	2.813000	0.96785	0.561000	0.74099	CGC		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			54	88	0	0	0	1	0	54	88					T	71756905	C	T	71756905	3	4	371	1	0	0	0	0	1	0	0	0	17867	768	27	1	1831	1	ZNF366	5	71756905	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	17353168	71756905	109158355	19	34215											
ZNF292	23036	broad.mit.edu	37	chr6	87968469	87968469	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaaagagaatttcaaaAccagtcttgagtcccataca	6	8	2	2	rs570081208		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:87968469A>T	ENST00000369577.3	+	8	5165	c.5122A>T	c.(5122-5124)Acc>Tcc	p.T1708S	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1708						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)		GAATTTCAAAACCAGTCTTGA	0.328																																						ENST00000369577.3																			0				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						c.(5122-5124)Acc>Tcc		zinc finger protein 292							42	41	41					6																	87968469		1825	4078	5903	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968469A>T	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.5122A>T	6.37:g.87968469A>T	ENSP00000358590:p.Thr1708Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	p.T1708S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5165	+		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)	1708					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5122A>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	1.530	-0.544512	0.04024	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08458	3.09;3.1	5.89	2.18	0.27775	.	0.332923	0.27509	N	0.019053	T	0.01287	0.0042	N	0.14661	0.345	0.23186	N	0.998152	B	0.31077	0.307	B	0.27380	0.079	T	0.44421	-0.9329	10	0.52906	T	0.07	.	4.2469	0.10675	0.5894:0.0:0.2636:0.147	.	1708	O60281	ZN292_HUMAN	S	1708;1703	ENSP00000358590:T1708S;ENSP00000342847:T1703S	ENSP00000342847:T1703S	T	+	1	0	ZNF292	88025188	0.898000	0.30612	0.982000	0.44146	0.112000	0.19704	0.968000	0.29357	0.457000	0.26962	0.455000	0.32223	ACC		0.328	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	24	0	0	0	1	0	3	24					T	87968469	A	T	87968469	3	4	371	1	0	0	0	0	1	0	0	0	17823	43	2	5	5152	5	ZNF292	6	87968469	Missense_Mutation	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		87968469	83146598	20	34216											
AHI1	54806	broad.mit.edu	37	chr6	135784396	135784399	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													gaaactgatctaactgaagaTtctttcttttgttcaccttc							TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:135784396_135784399delTTCT	ENST00000367800.4	-	6	1011_1014	c.795_798delAGAA	c.(793-798)aaagaafs	p.KE265fs	AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	265	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TAACTGAAGATTCTTTCTTTTGTT	0.328																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(793-798)aafs		Abelson helper integration site 1																																				SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784396_135784399delTTCT	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.795_798delAGAA	6.37:g.135784400_135784403delTTCT	ENSP00000356774:p.Lys265fs					AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs	p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1011_1014	-	Breast(56;0.239)|Colorectal(23;0.24)		265					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Del	DEL	ENST00000367800.4	37	c.795_798delAGAA	CCDS47483.1																																																																																				0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		11	87						11	87	---	---	---	---	-	135784399	TTCT	-	135784396	7	5	371	1	0	1	0	1	0	0	0	0	413	1490	52	0	2937	0	AHI1	6	135784396	Frame_Shift_Del	DEL	TTCT	TCGA-P5-A733-01A-11D-A32B-08	47815927	135784396	35330671	21	34217											
AUTS2	26053	broad.mit.edu	37	chr7	69364410	69364410	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacccacaccactacagcTcagatcgagaaaatgaccgc	7	16	1	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:69364410T>G	ENST00000342771.4	+	2	769	c.448T>G	c.(448-450)Tca>Gca	p.S150A	AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A|AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	150										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)		CCACTACAGCTCAGATCGAGA	0.512																																						ENST00000342771.4																			0				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						c.(448-450)Tca>Gca		autism susceptibility candidate 2							126	121	123					7																	69364410		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364410T>G	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.448T>G	7.37:g.69364410T>G	ENSP00000344087:p.Ser150Ala					AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A|AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A	p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	769	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	150					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.448T>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716147	0.68844	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.36878	1.25;1.23	5.65	5.65	0.86999	.	0.000000	0.48767	D	0.000164	T	0.52208	0.1720	L	0.43923	1.385	0.26175	N	0.979815	D;D;D	0.67145	0.99;0.99;0.996	D;D;D	0.76071	0.979;0.979;0.987	T	0.46665	-0.9175	9	.	.	.	-8.7033	16.0399	0.80667	0.0:0.0:0.0:1.0	.	150;150;150	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	A	150	ENSP00000385263:S150A;ENSP00000344087:S150A	.	S	+	1	0	AUTS2	69002346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.383000	0.66219	2.371000	0.80710	0.533000	0.62120	TCA		0.512	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			48	96	0	0	0	1	0	48	96					G	69364410	T	G	69364410	3	3	371	1	0	0	0	0	1	0	0	0	1225	1551	54	5	454	5	AUTS2	7	69364410	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		69364410	89774253	22	34218											
PLEC	5339	broad.mit.edu	37	chr8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccctcccggagcaggTtgtaggtctcgagagagatg	16	9	1	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				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						CCGGAGCAGGTTGTAGGTCTC	0.657																																						ENST00000322810.4																			0				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						c.(11401-11403)aAc>aGc		plectin							34	40	38					8																	144992998		2010	4159	6169	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992998T>C	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.11402A>G	8.37:g.144992998T>C	ENSP00000323856:p.Asn3801Ser					PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S	p.N3801S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11571	-			3801			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11402A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	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;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	PLEC	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	53	0	0	0	1	0	4	53					C	144992998	T	C	144992998	3	2	371	1	0	0	0	0	1	0	0	0	12052	1725	60	3	2656	3	PLEC	8	144992998	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		144992998	1371024	23	34219											
IDI1	3422	broad.mit.edu	37	chr10	1089303	1089305	+	In_Frame_Del	DEL	AAG	AAG	-													gcttattttcggtgttgaatAagaagacactaaaagctcga							TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:1089303_1089305delAAG	ENST00000381344.3	-	3	508_510	c.342_344delCTT	c.(340-345)ttctta>tta	p.F114del	IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	57	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GGTGTTGAATAAGAAGACACTAA	0.34																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(340-345)tta>tt		isopentenyl-diphosphate delta isomerase 1				0,4264		0,0,2132						-3.4	0.9			93	1,8253		0,1,4126	no	coding	IDI1	NM_004508.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1089303_1089305delAAG	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"IPP isomerase"	604055	"isopentenyl-diphosphate delta isomerase"			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.342_344delCTT	10.37:g.1089306_1089308delAAG	ENSP00000370748:p.Phe114del					IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA	p.FL114del	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	3	508_510	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	57			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	In_Frame_Del	DEL	ENST00000381344.3	37	c.342_344delCTT	CCDS7056.1																																																																																				0.34	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		9	73						9	73	---	---	---	---	-	1089305	AAG	-	1089303	7	5	371	1	0	1	0	1	0	0	0	0	7499	372	13	0	522	0	IDI1	10	1089303	In_Frame_Del	DEL	AAG	TCGA-P5-A733-01A-11D-A32B-08		1089303	134445444	24	34220											
ANO3	63982	broad.mit.edu	37	chr11	26569051	26569051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaattgttggtttgTgcgttttcttctatggatta	10	6	2	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:26569051T>C	ENST00000256737.3	+	12	2095	c.1243T>C	c.(1243-1245)Tgc>Cgc	p.C415R	ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000537978.1_Missense_Mutation_p.C399R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	415					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTGGTTTGTGCGTTTTCTT	0.368																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1243-1245)Tgc>Cgc		anoctamin 3							323	290	301					11																	26569051		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26569051T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1243T>C	11.37:g.26569051T>C	ENSP00000256737:p.Cys415Arg					ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.C399R	p.C415R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			12	2095	+			415					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1243T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958914	0.53400	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.59	5.59	0.84812	.	0.101626	0.64402	D	0.000002	T	0.58337	0.2115	N	0.19112	0.55	0.58432	D	0.999995	P;P	0.48589	0.666;0.912	P;P	0.49887	0.522;0.625	T	0.64884	-0.6302	10	0.87932	D	0	.	15.7528	0.78001	0.0:0.0:0.0:1.0	.	317;415	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	399;399;415;317;269	ENSP00000440737:C399R;ENSP00000432576:C399R;ENSP00000256737:C415R;ENSP00000432394:C269R	ENSP00000256737:C415R	C	+	1	0	ANO3	26525627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.062000	0.57492	2.115000	0.64714	0.477000	0.44152	TGC		0.368	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		29	172	0	0	0	1	0	29	172					C	26569051	T	C	26569051	3	2	371	1	0	0	0	0	1	0	0	0	698	1696	59	3	1289	3	ANO3	11	26569051	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		26569051	108437465	25	34221											
VWF	7450	broad.mit.edu	37	chr12	6128017	6128017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccatccgctgaatcacctCctccatgaactccttgctcc	4	18	1	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:6128017C>T	ENST00000261405.5	-	28	4821	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1523	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	TGAATCACCTCCTCCATGAAC	0.557																																						ENST00000261405.5																			0				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						c.(4567-4569)Gag>Aag		von Willebrand factor	Antihemophilic Factor(DB00025)						32	34	33					12																	6128017		2203	4297	6500	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128017C>T		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.4567G>A	12.37:g.6128017C>T	ENSP00000261405:p.Glu1523Lys						p.E1523K	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4821	-			1523			VWFA 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4567G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.782805	0.31502	.	.	ENSG00000110799	ENST00000261405	D	0.82803	-1.65	4.88	1.82	0.25136	von Willebrand factor, type A (3);	0.325858	0.22393	N	0.060644	D	0.82337	0.5015	L	0.55103	1.725	0.80722	D	1	B	0.31054	0.306	P	0.48524	0.58	T	0.73496	-0.3964	10	0.27082	T	0.32	.	4.3522	0.11160	0.0:0.3473:0.3794:0.2733	.	1523	P04275	VWF_HUMAN	K	1523	ENSP00000261405:E1523K	ENSP00000261405:E1523K	E	-	1	0	VWF	5998278	0.139000	0.22563	0.996000	0.52242	0.960000	0.62799	0.187000	0.16998	0.627000	0.30340	0.555000	0.69702	GAG		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		6	29	0	0	0	1	0	6	29					T	6128017	C	T	6128017	3	4	371	1	0	0	0	0	1	0	0	0	17243	864	30	2	3974	2	VWF	12	6128017	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		6128017	127723878	26	34222											
COL2A1	1280	broad.mit.edu	37	chr12	48372074	48372074	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggataccccacactcacCgacgggccaggcaagccagg	13	15	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:48372074C>T	ENST00000380518.3	-	43	3167	c.3003G>A	c.(3001-3003)tcG>tcA	p.S1001S	COL2A1_ENST00000337299.6_Splice_Site_p.S932S|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	1001	Triple-helical region.				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)	CCACACTCACCGACGGGCCAG	0.642																																						ENST00000380518.3																			0				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						c.e43+1		collagen, type II, alpha 1	Collagenase(DB00048)						122	74	90					12																	48372074		2203	4300	6503	SO:0001630	splice_region_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372074C>T	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.3003+1G>A	12.37:g.48372074C>T						COL2A1_ENST00000337299.6_Splice_Site_p.S932_splice|COL2A1_ENST00000493991.1_5'UTR	p.S1001_splice	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			43	3167	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1001			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Splice_Site	SNP	ENST00000380518.3	37	c.3003_splice	CCDS41778.1																																																																																				0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	Silent	6	20	0	0	0	1	0	6	20					T	48372074	C	T	48372074	5	4	371	1	0	0	0	0	0	0	1	0	3687	666	23	1	1508	1	COL2A1	12	48372074	Splice_Site	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	42244057	48372074	85479821	27	34223											
MLL2	8085	broad.mit.edu	37	chr12	49440465	49440466	+	Frame_Shift_Del	DEL	CA	CA	-													gtatgtgtggtagctaatatCacagtcatcacagagcagca							TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:49440465_49440466delCA	ENST00000301067.7	-	15	4343_4344	c.4344_4345delTG	c.(4342-4347)tgtgatfs	p.CD1448fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1448	Cys-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)										TAGCTAATATCACAGTCATCAC	0.584																																						ENST00000301067.7																			0											c.(4342-4347)tgatfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49440465_49440466delCA	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.4344_4345delTG	12.37:g.49440467_49440468delCA	ENSP00000301067:p.Cys1448fs						p.CD1448fs	NM_003482.3	NP_003473.3					15	4343_4344	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4344_4345delTG	CCDS44873.1																																																																																				0.584	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	67						17	67	---	---	---	---	-	49440466	CA	-	49440465	7	5	371	1	0	1	0	1	0	0	0	0	9621	826	29	0	12428	0	MLL2	12	49440465	Frame_Shift_Del	DEL	CA	TCGA-P5-A733-01A-11D-A32B-08	1068391	49440465	84411430	28	34224											
EP400	57634	broad.mit.edu	37	chr12	132549242	132549242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaatgcagaagcagaaActgcagatgcccccgcagcc	9	13	1	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:132549242A>G	ENST00000333577.4	+	49	8581	c.8472A>G	c.(8470-8472)aaA>aaG	p.K2824K	EP400_ENST00000389562.2_Silent_p.K2787K|EP400_ENST00000389561.2_Silent_p.K2788K|EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000330386.6_Silent_p.K2707K			Q96L91	EP400_HUMAN	E1A binding protein p400	2824					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAGCAGAAACTGCAGATGC	0.542																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8470-8472)aaA>aaG		E1A binding protein p400							37	49	45					12																	132549242		2202	4300	6502	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132549242A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8472A>G	12.37:g.132549242A>G						EP400_ENST00000330386.6_Silent_p.K2707K|EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000389562.2_Silent_p.K2787K|EP400_ENST00000389561.2_Silent_p.K2788K	p.K2824K			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	49	8581	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2824					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8472A>G																																																																																					0.542	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	78	0	0	0	1	0	9	78					G	132549242	A	G	132549242	2	3	371	1	0	0	0	0	0	0	0	1	5149	40	2	3		3	EP400	12	132549242	Silent	SNP	A	TCGA-P5-A733-01A-11D-A32B-08	83108777	132549242	1302653	29	34225											
MYH7	4625	broad.mit.edu	37	chr14	23886878	23886878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcagcttcctgcagcCgctgggccagcttcttcctg	9	18	2	0	rs370069461		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:23886878C>T	ENST00000355349.3	-	31	4349	c.4187G>A	c.(4186-4188)cGg>cAg	p.R1396Q	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1396					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)		TTCCTGCAGCCGCTGGGCCAG	0.587																																						ENST00000355349.3																			0				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						c.(4186-4188)cGg>cAg		myosin, heavy chain 7, cardiac muscle, beta		C	GLN/ARG	0,4406		0,0,2203	40	41	41		4187	5	1	14		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH7	NM_000257.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1396/1936	23886878	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886878C>T	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.4187G>A	14.37:g.23886878C>T	ENSP00000347507:p.Arg1396Gln						p.R1396Q	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4349	-	all_cancers(95;2.54e-05)		1396					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4187G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761597	0.89932	0.0	1.16E-4	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79454	-1.27	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.90494	0.7022	H	0.94264	3.515	0.58432	D	0.999998	D	0.63880	0.993	P	0.60236	0.871	D	0.93132	0.6534	9	0.87932	D	0	.	18.4709	0.90774	0.0:1.0:0.0:0.0	.	1396	P12883	MYH7_HUMAN	Q	1396;1401	ENSP00000347507:R1396Q	ENSP00000347507:R1396Q	R	-	2	0	MYH7	22956718	1.000000	0.71417	0.971000	0.41717	0.508000	0.34012	7.373000	0.79623	2.609000	0.88269	0.561000	0.74099	CGG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	33	0	0	0	1	0	8	33					T	23886878	C	T	23886878	3	4	371	1	0	0	0	0	1	0	0	0	10039	652	23	1	1660	1	MYH7	14	23886878	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		23886878	83462662	30	34226											
VSX2	338917	broad.mit.edu	37	chr14	74727463	74727463	+	Frame_Shift_Del	DEL	C	C	-													gagaacagcattgcggtgctCcgggccaaagctcaggagca							TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:74727463delC	ENST00000261980.2	+	5	1017	c.927delC	c.(925-927)ctcfs	p.L309fs		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	309					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TTGCGGTGCTCCGGGCCAAAG	0.662																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(925-927)ctfs		visual system homeobox 2							18	20	19					14																	74727463		2193	4288	6481	SO:0001589	frameshift_variant	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74727463delC	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.927delC	14.37:g.74727463delC	ENSP00000261980:p.Leu309fs						p.L309fs	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	5	1017	+			309					A1A4X6	Frame_Shift_Del	DEL	ENST00000261980.2	37	c.927delC	CCDS9827.1																																																																																				0.662	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		2	4						2	4	---	---	---	---	-	74727463	C	-	74727463	7	5	371	1	0	1	0	1	0	0	0	0	17229	842	30	0	945	0	VSX2	14	74727463	Frame_Shift_Del	DEL	C	TCGA-P5-A733-01A-11D-A32B-08	50840585	74727463	32622077	31	34227											
ADCY9	115	broad.mit.edu	37	chr16	4165239	4165239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgcagccggcctccgcCgcccactcgccgggggacgc	14	21	0	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:4165239C>T	ENST00000294016.3	-	2	743	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	69					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						CGGCCTCCGCCGCCCACTCGC	0.672																																						ENST00000294016.3																			0				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						c.(205-207)Ggc>Agc		adenylate cyclase 9							33	31	32					16																	4165239		2196	4299	6495	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165239C>T	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.205G>A	16.37:g.4165239C>T	ENSP00000294016:p.Gly69Ser						p.G69S	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	743	-			69					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.205G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	3.885	-0.025185	0.07589	.	.	ENSG00000162104	ENST00000294016	T	0.26373	1.74	5.04	4.09	0.47781	.	0.437004	0.23803	N	0.044408	T	0.12902	0.0313	N	0.12182	0.205	0.19945	N	0.999949	B	0.12013	0.005	B	0.08055	0.003	T	0.25187	-1.0139	10	0.09843	T	0.71	.	11.7019	0.51575	0.0:0.9148:0.0:0.0852	.	69	O60503	ADCY9_HUMAN	S	69	ENSP00000294016:G69S	ENSP00000294016:G69S	G	-	1	0	ADCY9	4105240	0.024000	0.19004	0.197000	0.23402	0.639000	0.38242	2.878000	0.48515	1.132000	0.42129	-0.464000	0.05259	GGC		0.672	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	22	0	0	0	1	0	4	22					T	4165239	C	T	4165239	3	4	371	1	0	0	0	0	1	0	0	0	301	652	23	1	3896	1	ADCY9	16	4165239	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		4165239	86189514	32	34228											
MYH11	4629	broad.mit.edu	37	chr16	15870007	15870007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctcgtctctggcttggcGaattgcccgtgatttttcta	9	12	3	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:15870007G>A	ENST00000300036.5	-	8	926	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000452625.2_Missense_Mutation_p.R280C|MYH11_ENST00000576790.2_Missense_Mutation_p.R273C	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGCTTGGCGAATTGCCCGT	0.488			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(817-819)Cgc>Tgc		myosin, heavy chain 11, smooth muscle							310	285	293					16																	15870007		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15870007G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.817C>T	16.37:g.15870007G>A	ENSP00000300036:p.Arg273Cys					MYH11_ENST00000576790.1_Missense_Mutation_p.R273C|MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000452625.2_Missense_Mutation_p.R280C|MYH11_ENST00000300036.5_Missense_Mutation_p.R273C	p.R273C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			8	923	-			273			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.817C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021167	0.75275	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.965	D;D;D;D;D	0.75484	0.986;0.966;0.925;0.966;0.969	D	0.95387	0.8478	10	0.59425	D	0.04	.	18.8584	0.92262	0.0:0.0:1.0:0.0	.	280;273;280;273;280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	C	273;273;280;280;280	ENSP00000300036:R273C;ENSP00000345136:R273C;ENSP00000379616:R280C;ENSP00000407821:R280C	ENSP00000300036:R273C	R	-	1	0	MYH11	15777508	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	3.495000	0.53280	2.804000	0.96469	0.462000	0.41574	CGC		0.488	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		14	209	0	0	0	1	0	14	209					A	15870007	G	A	15870007	3	1	371	1	0	0	0	0	1	0	0	0	10031	1058	37	1	5272	1	MYH11	16	15870007	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	11704768	15870007	74484746	33	34229											
SEZ6L2	26470	broad.mit.edu	37	chr16	29907101	29907101	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaagtgcagtccaggagccCcagggtgcggctgacggggc	18	11	0	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:29907101C>G	ENST00000308713.5	-	4	1119	c.592G>C	c.(592-594)Ggg>Cgg	p.G198R	SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	198	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAGGAGCCCCAGGGTGCGG	0.547																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(592-594)Ggg>Cgg		seizure related 6 homolog (mouse)-like 2							66	67	67					16																	29907101		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29907101C>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.592G>C	16.37:g.29907101C>G	ENSP00000312550:p.Gly198Arg					SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R	p.G198R	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			4	1119	-			198			CUB 1.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.592G>C	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605960	0.66445	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.60920	0.15;0.15;0.15	5.69	5.69	0.88448	CUB (5);	0.114873	0.39210	N	0.001421	T	0.68943	0.3056	L	0.40543	1.245	0.26873	N	0.967705	D;D;D;D;D	0.76494	0.991;0.999;0.998;0.999;0.998	D;D;D;D;D	0.72982	0.923;0.979;0.965;0.979;0.965	T	0.61973	-0.6952	10	0.36615	T	0.2	.	18.5897	0.91206	0.0:1.0:0.0:0.0	.	154;198;128;198;128	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	R	128;198;154	ENSP00000310206:G128R;ENSP00000312550:G198R;ENSP00000439412:G154R	ENSP00000312550:G198R	G	-	1	0	SEZ6L2	29814602	0.347000	0.24853	0.867000	0.34043	0.541000	0.35023	3.414000	0.52693	2.700000	0.92200	0.561000	0.74099	GGG		0.547	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		26	41	0	0	0	1	0	26	41					G	29907101	C	G	29907101	3	3	371	1	0	0	0	0	1	0	0	0	14144	623	22	4	2239	4	SEZ6L2	16	29907101	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	14037094	29907101	60447652	34	34230											
TP53	7157	broad.mit.edu	37	chr17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagcgctcatggtggGggcagcgcctcacaacctcc	13	15	2	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000359597.4_Missense_Mutation_p.P177R	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)	CTCATGGTGGGGGCAGCGCCT	0.647		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	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						c.(529-531)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							48	48	48					17																	7578400		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578400G>C	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.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg	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)				TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R	p.P177R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	662	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.530C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	12	0	0	0	1	0	26	12					C	7578400	G	C	7578400	3	2	371	1	0	0	0	0	1	0	0	0	16378	1232	43	4	768	4	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		7578400	73616810	35	34231											
SH2D3A	10045	broad.mit.edu	37	chr19	6754940	6754940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacttggggttccaggggccGattctgggggcccagcaggc	18	11	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr19:6754940G>A	ENST00000245908.6	-	5	1152	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	295					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGGGGCCGATTCTGGGGG	0.592																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(883-885)Cgg>Tgg		SH2 domain containing 3A							86	105	99					19																	6754940		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754940G>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.883C>T	19.37:g.6754940G>A	ENSP00000245908:p.Arg295Trp					SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W	p.R295W	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1152	-			295					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.883C>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595632	0.66219	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.29917	1.55;1.55	4.79	3.73	0.42828	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.38272	N	0.001751	T	0.49508	0.1561	M	0.62723	1.935	0.33900	D	0.638339	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.63655	-0.6588	10	0.87932	D	0	-21.8767	10.1402	0.42730	0.0:0.0:0.6368:0.3632	.	173;295	B4DRS7;Q9BRG2	.;SH23A_HUMAN	W	295;173	ENSP00000245908:R295W;ENSP00000393303:R173W	ENSP00000245908:R295W	R	-	1	2	SH2D3A	6705940	0.998000	0.40836	1.000000	0.80357	0.848000	0.48234	1.531000	0.36018	0.967000	0.38186	0.462000	0.41574	CGG		0.592	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		27	136	0	0	0	1	0	27	136					A	6754940	G	A	6754940	3	1	371	1	0	0	0	0	1	0	0	0	14233	1057	37	1	871	1	SH2D3A	19	6754940	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		6754940	52374043	36	34232											
SIRPB2	284759	broad.mit.edu	37	chr20	1460549	1460549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtttaaagttataaatttCctgttggtcctgagtgctca	8	7	1	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:1460549C>T	ENST00000359801.3	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	76	Ig-like V-type.				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)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(247-249)Gaa>Aaa		signal-regulatory protein beta 2							131	119	123					20																	1460549		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460549C>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.247G>A	20.37:g.1460549C>T	ENSP00000352849:p.Glu83Lys					SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Intron	p.E83K	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	283	-			83			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.247G>A	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777004	0.49786	.	.	ENSG00000196209	ENST00000359801	T	0.41400	1.0	4.27	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.082090	0.07144	N	0.847810	T	0.61664	0.2365	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	D	0.69824	0.966	T	0.46190	-0.9209	10	0.30078	T	0.28	-10.2126	12.3861	0.55333	0.0:1.0:0.0:0.0	.	83	Q5JXA9	SIRB2_HUMAN	K	83	ENSP00000352849:E83K	ENSP00000352849:E83K	E	-	1	0	SIRPB2	1408549	0.894000	0.30519	0.869000	0.34112	0.326000	0.28443	1.373000	0.34272	2.393000	0.81446	0.655000	0.94253	GAA		0.463	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		8	93	0	0	0	1	0	8	93					T	1460549	C	T	1460549	3	4	371	1	0	0	0	0	1	0	0	0	14334	864	30	2	797	2	SIRPB2	20	1460549	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		1460549	61564971	37	34233											
FOXS1	2307	broad.mit.edu	37	chr20	30432875	30432875	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccttgggatctggcagCtctggtgggaatgagcactg	16	9	2	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30432875C>T	ENST00000375978.3	-	1	545	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	157					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|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)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GATCTGGCAGCTCTGGTGGGA	0.687																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(469-471)gaG>gaA		forkhead box S1							23	23	23					20																	30432875		2203	4300	6503	SO:0001819	synonymous_variant	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432875C>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.471G>A	20.37:g.30432875C>T							p.E157E	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	545	-			157					Q96D28	Silent	SNP	ENST00000375978.3	37	c.471G>A	CCDS13192.1																																																																																				0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		6	19	0	0	0	1	0	6	19					T	30432875	C	T	30432875	2	4	371	1	0	0	0	0	0	0	0	1	6035	796	28	2		2	FOXS1	20	30432875	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	28972326	30432875	32592645	38	34234											
HCK	3055	broad.mit.edu	37	chr20	30676404	30676404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgaaaagtgatgaggGcagcaagcagccattgccaa	11	9	1	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30676404G>A	ENST00000520553.1	+	10	1232	c.986G>A	c.(985-987)gGc>gAc	p.G329D	HCK_ENST00000375852.2_Missense_Mutation_p.G350D|HCK_ENST00000534862.1_Missense_Mutation_p.G330D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D	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	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	AGTGATGAGGGCAGCAAGCAG	0.438																																						ENST00000534862.1																			0				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						c.(988-990)gGc>gAc		hemopoietic cell kinase							75	76	75					20																	30676404		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30676404G>A	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.986G>A	20.37:g.30676404G>A	ENSP00000429848:p.Gly329Asp					HCK_ENST00000520553.1_Missense_Mutation_p.G329D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D|HCK_ENST00000375852.2_Missense_Mutation_p.G350D	p.G330D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		11	1352	+			350			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.989G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872094	0.91587	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	4.55	4.55	0.56014	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	0.25344	0.0616	L	0.41124	1.26	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.81914	0.991;0.995	T	0.01356	-1.1376	10	0.87932	D	0	.	16.4614	0.84056	0.0:0.0:1.0:0.0	.	328;350	P08631-3;P08631	.;HCK_HUMAN	D	330;329;349;329;328;350	ENSP00000444986:G330D;ENSP00000441169:G329D;ENSP00000365022:G349D;ENSP00000429848:G329D;ENSP00000427757:G328D;ENSP00000365012:G350D	ENSP00000365012:G350D	G	+	2	0	HCK	30140065	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.675000	0.84002	2.368000	0.80403	0.549000	0.68633	GGC		0.438	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			14	35	0	0	0	1	0	14	35					A	30676404	G	A	30676404	3	1	371	1	0	0	0	0	1	0	0	0	6994	1203	42	2	1093	2	HCK	20	30676404	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	243529	30676404	32349116	39	34235											
GGT7	2686	broad.mit.edu	37	chr20	33439994	33439994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttagctgtccggttgggCcaggagaagtccagcatctg	15	9	1	1	rs201339481		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:33439994C>T	ENST00000336431.5	-	12	1595	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	517					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						TCCGGTTGGGCCAGGAGAAGT	0.617																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1549-1551)tgG>tgA		gamma-glutamyltransferase 7							67	62	64					20																	33439994		2203	4300	6503	SO:0001587	stop_gained	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33439994C>T	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.1551G>A	20.37:g.33439994C>T	ENSP00000338964:p.Trp517*					GGT7_ENST00000469018.1_5'UTR	p.W517*	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			12	1595	-			517					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Nonsense_Mutation	SNP	ENST00000336431.5	37	c.1551G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	39	7.393903	0.98255	.	.	ENSG00000131067	ENST00000336431	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.5717	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	517	.	ENSP00000338964:W517X	W	-	3	0	GGT7	32903655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.185000	0.77714	2.885000	0.99019	0.655000	0.94253	TGG		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		8	21	0	0	0	1	0	8	21					T	33439994	C	T	33439994	4	4	371	1	0	0	0	0	0	1	0	0	6364	740	26	2	453	2	GGT7	20	33439994	Nonsense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	2763590	33439994	29585526	40	34236											
RALGAPB	57148	broad.mit.edu	37	chr20	37174929	37174929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttcacctagtggtcctGcctctccttgtagtcttgtg	8	13	3	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:37174929G>T	ENST00000262879.6	+	19	3042	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	920					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGTGGTCCTGCCTCTCCTTG	0.418																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(2758-2760)Gcc>Tcc		Ral GTPase activating protein, beta subunit (non-catalytic)							125	113	117					20																	37174929		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37174929G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2758G>T	20.37:g.37174929G>T	ENSP00000262879:p.Ala920Ser					RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S	p.A920S			Q86X10	RLGPB_HUMAN			19	3042	+			920					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.2758G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738040	0.49045	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	4.92	4.92	0.64577	.	0.055011	0.64402	D	0.000001	T	0.52125	0.1715	L	0.31065	0.9	0.80722	D	1	B;B;B;B	0.26483	0.06;0.017;0.15;0.15	B;B;B;B	0.20577	0.019;0.015;0.03;0.03	T	0.50398	-0.8833	9	0.41790	T	0.15	.	18.1076	0.89525	0.0:0.0:1.0:0.0	.	748;920;916;920	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	S	920;916;920;698;920;748	.	ENSP00000262879:A920S	A	+	1	0	RALGAPB	36608343	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.242000	0.72376	2.287000	0.76781	0.313000	0.20887	GCC		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		18	80	1	0	3.32936e-07	1	3.38881e-07	18	80					T	37174929	G	T	37174929	3	4	371	1	0	0	0	0	1	0	0	0	13015	1319	46	4	2828	4	RALGAPB	20	37174929	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	3734935	37174929	25850591	41	34237											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	224	0	0	0	1	0	9	224					T	11058322	C	T	11058322	1	4	371	0	1	0	0	0	0	0	0	0	1292	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		11058322	37071573	42	34238											
PI4KA	5297	broad.mit.edu	37	chr22	21064202	21064202	+	Frame_Shift_Del	DEL	A	A	-													accaaggaacctacttcaagAgcttgattgtctggccgcga							TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr22:21064202delA	ENST00000572273.1	-	53	6223	c.5993delT	c.(5992-5994)ctcfs	p.L1999fs	PI4KA_ENST00000255882.6_Frame_Shift_Del_p.L2057fs|PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1999	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			CTACTTCAAGAGCTTGATTGT	0.552																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				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						c.(6166-6168)ccfs		phosphatidylinositol 4-kinase, catalytic, alpha							76	62	67					22																	21064202		2203	4298	6501	SO:0001589	frameshift_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21064202delA	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.5993delT	22.37:g.21064202delA	ENSP00000458238:p.Leu1999fs					PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs|PI4KA_ENST00000572273.1_Frame_Shift_Del_p.L1999fs	p.L2057fs	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		53	6253	-	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)	1999					Q7Z625|Q9UPG2	Frame_Shift_Del	DEL	ENST00000572273.1	37	c.6167delT																																																																																					0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		12	37						12	37	---	---	---	---	-	21064202	A	-	21064202	7	5	371	1	0	1	0	1	0	0	0	0	11873	304	11	0	153	0	PI4KA	22	21064202	Frame_Shift_Del	DEL	A	TCGA-P5-A733-01A-11D-A32B-08		21064202	30240364	43	34239											
TLR7	51284	broad.mit.edu	37	chrX	12904513	12904513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagaattaaaagttttaCgtctacacagtaactctctt	5	8	2	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:12904513C>T	ENST00000380659.3	+	3	1025	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	296					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|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 chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AAAAGTTTTACGTCTACACAG	0.418																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(886-888)Cgt>Tgt		toll-like receptor 7	Imiquimod(DB00724)						103	104	103					X																	12904513		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904513C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.886C>T	X.37:g.12904513C>T	ENSP00000370034:p.Arg296Cys						p.R296C	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1025	+			296					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.886C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788485	0.70337	.	.	ENSG00000196664	ENST00000380659	T	0.57595	0.39	5.65	5.65	0.86999	.	0.067309	0.64402	D	0.000015	T	0.66509	0.2796	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.68606	-0.5364	10	0.72032	D	0.01	.	15.1317	0.72530	0.1416:0.8584:0.0:0.0	.	296	Q9NYK1	TLR7_HUMAN	C	296	ENSP00000370034:R296C	ENSP00000370034:R296C	R	+	1	0	TLR7	12814434	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	3.780000	0.55386	2.366000	0.80165	0.600000	0.82982	CGT		0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		68	59	0	0	0	1	0	68	59					T	12904513	C	T	12904513	3	4	371	1	0	0	0	0	1	0	0	0	15953	536	19	1	892	1	TLR7	23	12904513	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		12904513	142366047	44	34240											
OTUD6A	139562	broad.mit.edu	37	chrX	69282578	69282578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggagaagttccaagaCgacagtagcattgaatctgt	12	7	1	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:69282578C>T	ENST00000338352.2	+	1	238	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	68					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGTTCCAAGACGACAGTAGCA	0.547																																						ENST00000338352.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(202-204)gaC>gaT		OTU domain containing 6A							31	29	30					X																	69282578		2203	4300	6503	SO:0001819	synonymous_variant	139562							g.chrX:69282578C>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.204C>T	X.37:g.69282578C>T							p.D68D	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	238	+			68					B2RPB7	Silent	SNP	ENST00000338352.2	37	c.204C>T	CCDS14395.1																																																																																				0.547	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		3	17	0	0	0	1	0	3	17					T	69282578	C	T	69282578	2	4	371	1	0	0	0	0	0	0	0	1	11316	535	19	1		1	OTUD6A	23	69282578	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	56378065	69282578	85987982	45	34241											
FOXO4	4303	broad.mit.edu	37	chrX	70320668	70320668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccccgccgccgggccgcCtccatggatagcagcagcaa	12	19	0	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:70320668C>T	ENST00000374259.3	+	2	920	c.588C>T	c.(586-588)gcC>gcT	p.A196A	FOXO4_ENST00000341558.3_Silent_p.A141A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	196					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					gccgggccgccTCCATGGATA	0.622											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(586-588)gcC>gcT		forkhead box O4							16	18	17					X																	70320668		1910	4121	6031	SO:0001819	synonymous_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70320668C>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.588C>T	X.37:g.70320668C>T			OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_ENST00000341558.3_Silent_p.A141A	p.A196A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN			2	920	+	Renal(35;0.156)		196					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	c.588C>T	CCDS43969.1																																																																																				0.622	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		5	12	0	0	0	1	0	5	12					T	70320668	C	T	70320668	2	4	371	1	0	0	0	0	0	0	0	1	6025	668	24	2		2	FOXO4	23	70320668	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	1038090	70320668	84949892	46	34242											
ATRX	546	broad.mit.edu	37	chrX	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													cagaagtttcatcgctctggTctttctttaggaatttctct							TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					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						ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2911-2916)acfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937833_76937836delTCTT	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.2912_2915delAAGA	X.37:g.76937837_76937840delTCTT	ENSP00000362441:p.Lys971fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs	p.KD971fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3126_3129	-			971					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2912_2915delAAGA	CCDS14434.1																																																																																				0.324	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		100	129						100	129	---	---	---	---	-	76937836	TCTT	-	76937833	7	5	371	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4671	0	ATRX	23	76937833	Frame_Shift_Del	DEL	TCTT	TCGA-P5-A733-01A-11D-A32B-08	6617165	76937833	78332727	47	34243											
OPN1MW	728458	broad.mit.edu	37	chrX	153496081	153496081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagtgacgcgcatggTggtggtgatggtcctggcat	18	6	0	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:153496081T>G	ENST00000369929.4	+	5	869	c.809T>G	c.(808-810)gTg>gGg	p.V270G	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	270					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)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	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)					ACGCGCATGGTGGTGGTGATG	0.572																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(808-810)gTg>gGg		opsin 1 (cone pigments), medium-wave-sensitive 2							227	151	178					X																	153496081		2107	3828	5935	SO:0001583	missense	728458							g.chrX:153496081T>G		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"GPCR / Class A : Opsin receptors"	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.809T>G	X.37:g.153496081T>G	ENSP00000358945:p.Val270Gly					OPN1MW2_ENST00000488220.1_3'UTR	p.V270G	NM_001048181.2	NP_001041646.1					5	869	+	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)								Missense_Mutation	SNP	ENST00000369929.4	37	c.809T>G	CCDS35447.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.116991	0.56505	.	.	ENSG00000166160	ENST00000369929	T	0.41758	0.99	2.81	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54569	-0.8274	7	0.87932	D	0	.	9.4522	0.38734	0.0:0.0:0.0:1.0	.	.	.	.	G	270	ENSP00000358945:V270G	ENSP00000358945:V270G	V	+	2	0	OPN1MW2	153149275	1.000000	0.71417	0.995000	0.50966	0.692000	0.40212	7.675000	0.84002	1.028000	0.39785	0.331000	0.21540	GTG		0.572	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		17	21	0	0	0	1	0	17	21					G	153496081	T	G	153496081	3	3	371	1	0	0	0	0	1	0	0	0	10878	1696	59	5	1946	5	OPN1MW	23	153496081	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	76558248	153496081	1774479	48	34244											
ARID1A	8289	broad.mit.edu	37	chr1	27101374	27101374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccatggcacacgccaGcccccatatggtccctctgc	7	20	1	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:27101374G>A	ENST00000324856.7	+	18	5027	c.4656G>A	c.(4654-4656)caG>caA	p.Q1552Q	ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1552					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)		GCACACGCCAGCCCCCATATG	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(4654-4656)caG>caA		AT rich interactive domain 1A (SWI-like)							38	40	40					1																	27101374		2203	4298	6501	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101374G>A	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.4656G>A	1.37:g.27101374G>A						ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000457599.2_Intron	p.Q1552Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	18	5027	+		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)	1552					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4656G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	3.394	-0.123649	0.06795	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.18	4.27	0.50696	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61695	-0.7010	4	.	.	.	-6.0152	11.8669	0.52499	0.1447:0.0:0.8553:0.0	.	.	.	.	T	449	.	.	A	+	1	0	ARID1A	26973961	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.271000	0.33098	1.440000	0.47531	-0.253000	0.11424	GCC		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	13	0	0	0	1	0	10	13					A	27101374	G	A	27101374	2	1	372	1	0	0	0	0	0	0	0	1	913	962	34	2		2	ARID1A	1	27101374	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		27101374	222149247	1	34245											
MEX3A	92312	broad.mit.edu	37	chr1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-													cagcgcgggccttggcggaaGaggaggaggaggaggaggca							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S	MEX3A_ENST00000442784.1_5'Flank|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1237-1242)tct>tc		mex-3 RNA binding family member A				33,3511		2,29,1741						-6.7	0.3			7	102,7534		2,98,3718	no	coding	MEX3A	NM_001093725.1		4,127,5459	A1A1,A1R,RR		1.3358,0.9312,1.2075				135,11045				SO:0001651	inframe_deletion	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046687_156046689delGAG	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1239_1241delCTC	1.37:g.156046696_156046698delGAG	ENSP00000432845:p.Ser415del						p.SS413del	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1238_1240	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		413			Poly-Ser.			In_Frame_Del	DEL	ENST00000532414.2	37	c.1239_1241delCTC	CCDS53377.1																																																																																				0.744	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		2	4						2	4	---	---	---	---	-	156046689	GAG	-	156046687	7	5	372	1	0	1	0	1	0	0	0	0	9509	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-P5-A735-01A-11D-A32B-08	128945313	156046687	93203934	2	34246											
SPTA1	6708	broad.mit.edu	37	chr1	158641928	158641928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcactgctcatactgaCgatgacgctcgtcccacagt	8	15	1	2	rs370498187		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:158641928C>T	ENST00000368147.4	-	11	1589	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	470					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATACTGACGATGACGCTC	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1408-1410)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		T	HIS/ARG	0,3932		0,0,1966	114	110	111		1409	2.7	0	1		111	1,8321		0,1,4160	no	missense	SPTA1	NM_003126.2	29	0,1,6126	TT,TC,CC		0.012,0.0,0.0082	benign	470/2420	158641928	1,12253	1966	4161	6127	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158641928C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1409G>A	1.37:g.158641928C>T	ENSP00000357129:p.Arg470His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R470H	p.R470H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			11	1589	-	all_hematologic(112;0.0378)		470					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1409G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	4.511	0.094805	0.08681	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49432	0.78;0.78	5.0	2.66	0.31614	.	0.810877	0.10077	N	0.718994	T	0.06645	0.0170	N	0.01048	-1.04	0.21355	N	0.999714	B	0.02656	0.0	B	0.04013	0.001	T	0.42189	-0.9466	10	0.27785	T	0.31	.	10.5345	0.44996	0.0:0.2099:0.0:0.7901	.	470	P02549	SPTA1_HUMAN	H	470	ENSP00000357130:R470H;ENSP00000357129:R470H	ENSP00000357129:R470H	R	-	2	0	SPTA1	156908552	0.998000	0.40836	0.001000	0.08648	0.032000	0.12392	2.804000	0.47931	-0.160000	0.11002	-2.269000	0.00276	CGT		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		31	23	0	0	0	1	0	31	23					T	158641928	C	T	158641928	3	4	372	1	0	0	0	0	1	0	0	0	15115	536	19	1	6018	1	SPTA1	1	158641928	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	2595241	158641928	90608693	3	34247											
OTOF	9381	broad.mit.edu	37	chr2	26684997	26684997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccctgtgaagaagtcgtCgtcctccaagaccacctcat	7	16	1	3	rs555613193		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:26684997C>T	ENST00000272371.2	-	42	5371	c.5245G>A	c.(5245-5247)Gac>Aac	p.D1749N	OTOF_ENST00000339598.3_Missense_Mutation_p.D982N|OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1749					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGTCGTCGTCCTCCAAG	0.607																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(5245-5247)Gac>Aac		otoferlin							181	164	170					2																	26684997		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26684997C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5245G>A	2.37:g.26684997C>T	ENSP00000272371:p.Asp1749Asn					OTOF_ENST00000339598.3_Missense_Mutation_p.D982N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N	p.D1749N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			42	5371	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1749					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5245G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150628	0.94645	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.06	5.06	0.68205	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.986	D;P;D;P	0.80764	0.994;0.726;0.983;0.848	D	0.92499	0.6007	10	0.38643	T	0.18	-24.2221	18.0128	0.89229	0.0:1.0:0.0:0.0	.	1749;982;1059;982	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	N	982;982;1059;1749;1749	ENSP00000345137:D982N;ENSP00000344521:D982N;ENSP00000383906:D1059N;ENSP00000272371:D1749N;ENSP00000385255:D1749N	ENSP00000272371:D1749N	D	-	1	0	OTOF	26538501	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	7.747000	0.85070	2.355000	0.79922	0.561000	0.74099	GAC		0.607	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			6	127	0	0	0	1	0	6	127					T	26684997	C	T	26684997	3	4	372	1	0	0	0	0	1	0	0	0	11303	884	31	1	953	1	OTOF	2	26684997	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08		26684997	216514376	4	34248											
CEBPZ	10153	broad.mit.edu	37	chr2	37447581	37447581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacagaacagagggtttcTactgaatggatcgtatttat	9	7	1	3			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:37447581T>C	ENST00000234170.5	-	5	2246	c.2101A>G	c.(2101-2103)Aga>Gga	p.R701G		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	701					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGAGGGTTTCTACTGAATGGA	0.308																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2101-2103)Aga>Gga		CCAAT/enhancer binding protein (C/EBP), zeta							47	48	47					2																	37447581		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37447581T>C	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2101A>G	2.37:g.37447581T>C	ENSP00000234170:p.Arg701Gly						p.R701G	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			5	2246	-		all_hematologic(82;0.21)	701					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2101A>G	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740962	0.69304	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.26518	1.73	5.81	4.61	0.57282	Armadillo-type fold (1);CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73091	-0.4092	10	0.87932	D	0	.	13.5421	0.61681	0.0:0.0:0.1796:0.8204	.	701	Q03701	CEBPZ_HUMAN	G	701	ENSP00000234170:R701G	ENSP00000234170:R701G	R	-	1	2	CEBPZ	37301085	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.519000	0.53458	2.224000	0.72417	0.528000	0.53228	AGA		0.308	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		8	13	0	0	0	1	0	8	13					C	37447581	T	C	37447581	3	2	372	1	0	0	0	0	1	0	0	0	3204	1530	53	3	1111	3	CEBPZ	2	37447581	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	10762584	37447581	205751792	5	34249											
IL1F9	56300	broad.mit.edu	37	chr2	113742562	113742562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagagagaccagcccaTcattctgacttcagaacttg	7	13	3	4			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:113742562T>A	ENST00000259205.4	+	5	515	c.446T>A	c.(445-447)aTc>aAc	p.I149N	IL36G_ENST00000376489.2_Missense_Mutation_p.I114N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	149					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GACCAGCCCATCATTCTGACT	0.488																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(445-447)aTc>aAc		interleukin 36, gamma							88	80	83					2																	113742562		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742562T>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.446T>A	2.37:g.113742562T>A	ENSP00000259205:p.Ile149Asn					IL36G_ENST00000376489.2_Missense_Mutation_p.I114N	p.I149N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN			5	515	+			149					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.446T>A	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551335	0.45383	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.22134	1.97;2.69	4.39	3.23	0.37069	.	0.353222	0.24160	N	0.040996	T	0.43986	0.1272	M	0.82517	2.595	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.952;0.992	T	0.25537	-1.0129	10	0.87932	D	0	-9.7766	6.6338	0.22872	0.0:0.1089:0.0:0.8911	.	114;149	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	N	114;149	ENSP00000365672:I114N;ENSP00000259205:I149N	ENSP00000259205:I149N	I	+	2	0	IL36G	113459033	0.006000	0.16342	0.010000	0.14722	0.045000	0.14185	1.868000	0.39509	0.832000	0.34804	0.379000	0.24179	ATC		0.488	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		4	47	0	0	0	1	0	4	47					A	113742562	T	A	113742562	3	1	372	1	0	0	0	0	1	0	0	0	7657	1435	50	5	460	5	IL1F9	2	113742562	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	76294981	113742562	129456811	6	34250											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	26	0	0	0	1	0	25	26					T	209113112	C	T	209113112	3	4	372	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	95370550	209113112	34086261	7	34251											
SLC11A1	6556	broad.mit.edu	37	chr2	219251432	219251432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggaagtcatcggcacGgccattgcattcaatctgct	10	11	3	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:219251432G>A	ENST00000233202.6	+	5	808	c.468G>A	c.(466-468)acG>acA	p.T156T	SLC11A1_ENST00000539932.1_Silent_p.T38T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	156					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGGCACGGCCATTGCAT	0.582																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(466-468)acG>acA		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							113	90	98					2																	219251432		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251432G>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.468G>A	2.37:g.219251432G>A						SLC11A1_ENST00000539932.1_Silent_p.T38T	p.T156T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	808	+		Renal(207;0.0474)	156					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.468G>A	CCDS2415.1																																																																																				0.582	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		11	14	0	0	0	1	0	11	14					A	219251432	G	A	219251432	2	1	372	1	0	0	0	0	0	0	0	1	14380	1103	39	1		1	SLC11A1	2	219251432	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08	10138320	219251432	23947941	8	34252											
CNTN4	152330	broad.mit.edu	37	chr3	3084667	3084667	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttatcttcttaggttaaaTattggagacatgaagacaaa	8	4	2	3			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:3084667T>A	ENST00000397461.1	+	21	2902	c.2518T>A	c.(2518-2520)Tat>Aat	p.Y840N	CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	840	Fibronectin type-III 3. {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)		TTAGGTTAAATATTGGAGACA	0.353																																						ENST00000397461.1																			0				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						c.(2518-2520)Tat>Aat		contactin 4							55	53	54					3																	3084667		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084667T>A	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.2518T>A	3.37:g.3084667T>A	ENSP00000380602:p.Tyr840Asn					CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N	p.Y840N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	2902	+		Ovarian(110;0.156)	840			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2518T>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189657	0.78789	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.073444	0.64402	D	0.000020	D	0.84129	0.5404	H	0.94964	3.605	0.80722	D	1	D;D	0.76494	0.972;0.999	P;D	0.73380	0.876;0.98	D	0.88944	0.3382	9	.	.	.	.	15.0619	0.71961	0.0:0.0:0.0:1.0	.	839;840	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	N	840;840;840;621;512;512	ENSP00000396010:Y840N;ENSP00000380602:Y840N;ENSP00000413642:Y840N;ENSP00000351267:Y621N;ENSP00000380600:Y512N;ENSP00000392077:Y512N	.	Y	+	1	0	CNTN4	3059667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.407000	0.80029	2.025000	0.59659	0.533000	0.62120	TAT		0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			13	23	0	0	0	1	0	13	23					A	3084667	T	A	3084667	3	1	372	1	0	0	0	0	1	0	0	0	3643	1406	49	5	2592	5	CNTN4	3	3084667	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		3084667	194937763	9	34253											
COLQ	8292	broad.mit.edu	37	chr3	15516986	15516986	+	Frame_Shift_Del	DEL	T	T	-													cccatcatacccaggtcaccTttttcaccctgtgggaatta							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:15516986delT	ENST00000383788.5	-	7	599	c.474delA	c.(472-474)aaafs	p.K158fs	COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000383785.2_Frame_Shift_Del_p.K158fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	158	Collagen-like 1.				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						CCAGGTCACCTTTTTCACCCT	0.507																																						ENST00000383785.2																			0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						c.(472-474)aafs		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							58	44	48					3																	15516986		2203	4300	6503	SO:0001589	frameshift_variant	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15516986delT	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.474delA	3.37:g.15516986delT	ENSP00000373298:p.Lys158fs					COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs|COLQ_ENST00000383788.5_Frame_Shift_Del_p.K158fs	p.K158fs			Q9Y215	COLQ_HUMAN			7	599	-			158			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Frame_Shift_Del	DEL	ENST00000383788.5	37	c.474delA	CCDS33709.1																																																																																				0.507	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		2	4						2	4	---	---	---	---	-	15516986	T	-	15516986	7	5	372	1	0	1	0	1	0	0	0	0	3713	1606	56	0	937	0	COLQ	3	15516986	Frame_Shift_Del	DEL	T	TCGA-P5-A735-01A-11D-A32B-08	12432319	15516986	182505444	10	34254											
CCDC110	256309	broad.mit.edu	37	chr4	186379853	186379853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttctattatttgaagaaGtgtctcttgttccgtttttg	8	5	2	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:186379853G>A	ENST00000307588.3	-	6	1963	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F|CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	630						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATTTGAAGAAGTGTCTCTTGT	0.328																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1888-1890)Ctt>Ttt		coiled-coil domain containing 110							87	90	89					4																	186379853		2202	4297	6499	SO:0001583	missense	256309					nucleus		g.chr4:186379853G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1888C>T	4.37:g.186379853G>A	ENSP00000306776:p.Leu630Phe					CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F|CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F	p.L630F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1963	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	630					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1888C>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107711	0.20714	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.31769	1.48;1.48;1.48	5.55	5.55	0.83447	.	0.126859	0.36002	N	0.002853	T	0.38108	0.1028	M	0.67953	2.075	0.23831	N	0.996725	B;B;B	0.32203	0.36;0.36;0.36	B;B;B	0.34385	0.181;0.13;0.181	T	0.38564	-0.9655	10	0.62326	D	0.03	-11.3948	17.6254	0.88092	0.0:0.0:1.0:0.0	.	630;593;630	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	F	593;630;630	ENSP00000377172:L593F;ENSP00000306776:L630F;ENSP00000427246:L630F	ENSP00000306776:L630F	L	-	1	0	CCDC110	186616847	1.000000	0.71417	0.408000	0.26446	0.526000	0.34562	3.064000	0.49986	2.755000	0.94549	0.655000	0.94253	CTT		0.328	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		24	67	0	0	0	1	0	24	67					A	186379853	G	A	186379853	3	1	372	1	0	0	0	0	1	0	0	0	2747	1029	36	2	621	2	CCDC110	4	186379853	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		186379853	4774423	11	34255											
FAT1	2195	broad.mit.edu	37	chr4	187532792	187532792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaagccttgatccacagCtttcaaagagagggtgtata	11	8	1	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:187532792C>T	ENST00000441802.2	-	14	9810	c.9601G>A	c.(9601-9603)Gct>Act	p.A3201T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3201	Cadherin 29. {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						TGATCCACAGCTTTCAAAGAG	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(9601-9603)Gct>Act		FAT atypical cadherin 1							56	55	55					4																	187532792		1912	4129	6041	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187532792C>T	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.9601G>A	4.37:g.187532792C>T	ENSP00000406229:p.Ala3201Thr	HNSCC(5;0.00058)					p.A3201T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			14	9810	-			3201			Cadherin 29.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9601G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310167	0.95629	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.36878	1.23	5.2	5.2	0.72013	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	H	0.97491	4.015	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.83547	0.0099	10	0.66056	D	0.02	.	18.9342	0.92579	0.0:1.0:0.0:0.0	.	3201	Q14517	FAT1_HUMAN	T	3201;3203	ENSP00000406229:A3201T	ENSP00000260147:A3203T	A	-	1	0	FAT1	187769786	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.647000	0.83462	2.707000	0.92482	0.555000	0.69702	GCT		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		4	12	0	0	0	1	0	4	12					T	187532792	C	T	187532792	3	4	372	1	0	0	0	0	1	0	0	0	5689	797	28	2	4221	2	FAT1	4	187532792	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	1152939	187532792	3621484	12	34256											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862012	128862012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctagaaaaatagcagaaAgtggaagagggaaacgatat	13	3	1	3			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr5:128862012A>G	ENST00000274487.4	+	4	1076	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	311						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)		AATAGCAGAAAGTGGAAGAGG	0.363																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(931-933)Agt>Ggt		ADAM metallopeptidase with thrombospondin type 1 motif, 19							77	72	74					5																	128862012		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862012A>G	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.931A>G	5.37:g.128862012A>G	ENSP00000274487:p.Ser311Gly					CTC-575N7.1_ENST00000503616.1_RNA	p.S311G	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1076	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	311						Missense_Mutation	SNP	ENST00000274487.4	37	c.931A>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461583	0.43736	.	.	ENSG00000145808	ENST00000274487	T	0.66638	-0.22	4.45	4.45	0.53987	.	0.338095	0.30791	N	0.008878	T	0.46092	0.1375	N	0.14661	0.345	0.28649	N	0.906767	B	0.31435	0.323	B	0.21546	0.035	T	0.36212	-0.9757	9	.	.	.	.	14.781	0.69766	1.0:0.0:0.0:0.0	.	311	Q8TE59	ATS19_HUMAN	G	311	ENSP00000274487:S311G	.	S	+	1	0	ADAMTS19	128889911	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	2.947000	0.49058	2.231000	0.72958	0.455000	0.32223	AGT		0.363	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		21	22	0	0	0	1	0	21	22					G	128862012	A	G	128862012	3	3	372	1	0	0	0	0	1	0	0	0	264	72	3	3	945	3	ADAMTS19	5	128862012	Missense_Mutation	SNP	A	TCGA-P5-A735-01A-11D-A32B-08		128862012	52053248	13	34257											
SLC17A2	10246	broad.mit.edu	37	chr6	25921307	25921307	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatagtaaactgaccTgtccatgccattccctgaaa	6	13	0	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:25921307T>A	ENST00000265425.3	-	4	509	c.489A>T	c.(487-489)acA>acT	p.T163T	SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000377850.3_Silent_p.T163T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	163					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						TAAACTGACCTGTCCATGCCA	0.433																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(487-489)acA>acT		solute carrier family 17, member 2							106	86	93					6																	25921307		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921307T>A	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.489A>T	6.37:g.25921307T>A						SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000265425.3_Silent_p.T163T	p.T163T			O00624	NPT3_HUMAN			5	1013	-			163					A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.489A>T																																																																																					0.433	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			13	22	0	0	0	1	0	13	22					A	25921307	T	A	25921307	2	1	372	1	0	0	0	0	0	0	0	1	14417	1567	55	5		5	SLC17A2	6	25921307	Silent	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		25921307	145193760	14	34258											
KIFC1	3833	broad.mit.edu	37	chr6	33372952	33372953	+	Frame_Shift_Del	DEL	GA	GA	-													gacgagcggcgtgggaccctGagtggggcaccagctccccc							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:33372952_33372953delGA	ENST00000428849.2	+	7	1530_1531	c.1080_1081delGA	c.(1078-1083)ctgagtfs	p.S361fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	361	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						GTGGGACCCTGAGTGGGGCACC	0.609																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1078-1083)ctgtfs		kinesin family member C1																																				SO:0001589	frameshift_variant	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33372952_33372953delGA	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.1080_1081delGA	6.37:g.33372952_33372953delGA	ENSP00000393963:p.Ser361fs						p.LS360fs	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			7	1530_1531	+			360			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Frame_Shift_Del	DEL	ENST00000428849.2	37	c.1080_1081delGA	CCDS34430.1																																																																																				0.609	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		55	60						55	60	---	---	---	---	-	33372953	GA	-	33372952	7	5	372	1	0	1	0	1	0	0	0	0	8312	1277	45	0	1106	0	KIFC1	6	33372952	Frame_Shift_Del	DEL	GA	TCGA-P5-A735-01A-11D-A32B-08	7451645	33372952	137742115	15	34259											
INSIG1	3638	broad.mit.edu	37	chr7	155090103	155090105	+	In_Frame_Del	DEL	GAT	GAT	-													ctggcggccaaggttggggaGatgatcaacgtttccgtgtc							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr7:155090103_155090105delGAT	ENST00000340368.4	+	2	319_321	c.108_110delGAT	c.(106-111)gagatg>gag	p.M37del	INSIG1_ENST00000342407.5_In_Frame_Del_p.M37del|AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000344756.4_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	37					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)		AGGTTGGGGAGATGATCAACGTT	0.744																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(106-111)gag>ga		insulin induced gene 1																																				SO:0001651	inframe_deletion	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155090103_155090105delGAT		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.108_110delGAT	7.37:g.155090106_155090108delGAT	ENSP00000344741:p.Met37del					INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_In_Frame_Del_p.EM36del	p.EM36del	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	319_321	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	36					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	In_Frame_Del	DEL	ENST00000340368.4	37	c.108_110delGAT	CCDS5938.1																																																																																				0.744	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		4	3						4	3	---	---	---	---	-	155090105	GAT	-	155090103	7	5	372	1	0	1	0	1	0	0	0	0	7765	933	33	0	110	0	INSIG1	7	155090103	In_Frame_Del	DEL	GAT	TCGA-P5-A735-01A-11D-A32B-08		155090103	4048560	16	34260											
TACC2	10579	broad.mit.edu	37	chr10	123843843	123843843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaagcgtgatccagaaGtaggcaaagatgagctttca	12	8	1	4			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr10:123843843G>C	ENST00000369005.1	+	4	2168	c.1828G>C	c.(1828-1830)Gta>Cta	p.V610L	TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.V610L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	610					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)				TGATCCAGAAGTAGGCAAAGA	0.572																																						ENST00000369005.1																			0				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						c.(1828-1830)Gta>Cta		transforming, acidic coiled-coil containing protein 2							68	63	65					10																	123843843		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843843G>C	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.1828G>C	10.37:g.123843843G>C	ENSP00000358001:p.Val610Leu					TACC2_ENST00000334433.3_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L	p.V610L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2168	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	610					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1828G>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635953	0.29068	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03330	4.03;3.97;3.97;4.03;3.97	5.29	-2.45	0.06481	.	2.237190	0.02510	N	0.091389	T	0.03178	0.0093	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.11329	0.006;0.006;0.006	T	0.45279	-0.9272	10	0.52906	T	0.07	0.3842	5.9216	0.19086	0.5493:0.1497:0.301:0.0	.	610;610;610	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	L	610;610;610;610;610;600	ENSP00000358001:V610L;ENSP00000424467:V610L;ENSP00000427618:V610L;ENSP00000334280:V610L;ENSP00000395048:V610L	ENSP00000334280:V610L	V	+	1	0	TACC2	123833833	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.450000	0.06803	-0.562000	0.06086	-0.258000	0.10820	GTA		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	19	0	0	0	1	0	13	19					C	123843843	G	C	123843843	3	2	372	1	0	0	0	0	1	0	0	0	15499	1029	36	4	1838	4	TACC2	10	123843843	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		123843843	11690904	17	34261											
AGBL2	79841	broad.mit.edu	37	chr11	47731973	47731973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggtatcaaatcatctTtttccccaagagagccattc	6	11	4	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:47731973T>C	ENST00000525123.1	-	4	473	c.188A>G	c.(187-189)aAa>aGa	p.K63R	AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	63						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAAATCATCTTTTTCCCCAAG	0.433																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(187-189)aAa>aGa		ATP/GTP binding protein-like 2							150	139	143					11																	47731973		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47731973T>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.188A>G	11.37:g.47731973T>C	ENSP00000435582:p.Lys63Arg					AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R	p.K63R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			4	473	-			63					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.188A>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	T	0.961	-0.703265	0.03255	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.41758	1.98;1.98;1.98;1.98;0.99;1.98;1.98	4.82	2.91	0.33838	.	0.714676	0.13307	N	0.397767	T	0.13586	0.0329	N	0.02111	-0.68	0.19575	N	0.999963	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32534	-0.9903	10	0.02654	T	1	-4.0637	6.331	0.21270	0.0:0.7102:0.1853:0.1045	.	63;63;63	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	R	63;63;63;63;63;63;43;63	ENSP00000435582:K63R;ENSP00000350228:K63R;ENSP00000298861:K63R;ENSP00000436630:K63R;ENSP00000436063:K63R;ENSP00000432264:K43R;ENSP00000436518:K63R	ENSP00000298861:K63R	K	-	2	0	AGBL2	47688549	0.964000	0.33143	0.934000	0.37439	0.569000	0.35902	0.688000	0.25422	0.439000	0.26476	-0.473000	0.04963	AAA		0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		7	120	0	0	0	1	0	7	120					C	47731973	T	C	47731973	3	2	372	1	0	0	0	0	1	0	0	0	376	1841	64	3	2584	3	AGBL2	11	47731973	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		47731973	87274543	18	34262											
TMEM19	55266	broad.mit.edu	37	chr12	72094726	72094726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttcttctgttcttaTtgccctcttgctcccaactg	5	13	5	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr12:72094726T>C	ENST00000266673.5	+	6	1556	c.962T>C	c.(961-963)aTt>aCt	p.I321T		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	321						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TCTGTTCTTATTGCCCTCTTG	0.463																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(961-963)aTt>aCt		transmembrane protein 19							287	249	262					12																	72094726		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72094726T>C	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.962T>C	12.37:g.72094726T>C	ENSP00000266673:p.Ile321Thr						p.I321T	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1556	+		Breast(359;0.0889)	321					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.962T>C	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	T	7.225	0.598067	0.13939	.	.	ENSG00000139291	ENST00000266673	.	.	.	5.93	4.79	0.61399	.	0.708441	0.14106	N	0.341037	T	0.42698	0.1214	N	0.21617	0.685	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.14476	-1.0471	9	0.19590	T	0.45	-4.199	11.9793	0.53111	0.0:0.0674:0.0:0.9326	.	321	Q96HH6	TMM19_HUMAN	T	321	.	ENSP00000266673:I321T	I	+	2	0	TMEM19	70380993	0.606000	0.26949	0.196000	0.23383	0.894000	0.52154	4.050000	0.57404	1.065000	0.40693	0.533000	0.62120	ATT		0.463	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		94	111	0	0	0	1	0	94	111					C	72094726	T	C	72094726	3	2	372	1	0	0	0	0	1	0	0	0	16110	1493	52	3	984	3	TMEM19	12	72094726	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		72094726	61757169	19	34263											
MKRN3	7681	broad.mit.edu	37	chr15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-													gactcaggaagtggcggaagCccccccggctgcatcctccc							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:23811405delC	ENST00000314520.3	+	1	952	c.476delC	c.(475-477)gccfs	p.A159fs	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCGGAAGCCCCCCCGGCT	0.642																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(475-477)gcfs		makorin ring finger protein 3							25	27	27					15																	23811405		2203	4300	6503	SO:0001589	frameshift_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811405delC	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.476delC	15.37:g.23811405delC	ENSP00000313881:p.Ala159fs					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	p.A159fs	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	952	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	159						Frame_Shift_Del	DEL	ENST00000314520.3	37	c.476delC	CCDS10013.1																																																																																				0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		8	14						8	14	---	---	---	---	-	23811405	C	-	23811405	7	5	372	1	0	1	0	1	0	0	0	0	9608	739	26	0	478	0	MKRN3	15	23811405	Frame_Shift_Del	DEL	C	TCGA-P5-A735-01A-11D-A32B-08		23811405	78719987	20	34264											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157873	65157873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggaggtgaaggtggcctCggaacagacggagaaactgt	17	7	0	3	rs543499350		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:65157873C>T	ENST00000323544.4	+	6	1387	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	420										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGTGGCCTCGGAACAGACG	0.632																																						ENST00000323544.4																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1258-1260)tCg>tTg		pleckstrin homology domain containing, family O member 2							52	52	52					15																	65157873		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157873C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1259C>T	15.37:g.65157873C>T	ENSP00000326706:p.Ser420Leu					AC069368.3_ENST00000437723.1_Intron	p.S420L	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN			6	1387	+			420					Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1259C>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115074	0.56505	.	.	ENSG00000241839	ENST00000323544	T	0.29397	1.57	5.13	5.13	0.70059	.	0.474048	0.21139	N	0.079503	T	0.22399	0.0540	L	0.27053	0.805	0.33634	D	0.606396	P;P	0.50710	0.91;0.938	B;B	0.41466	0.358;0.206	T	0.29941	-0.9995	10	0.44086	T	0.13	.	11.4096	0.49919	0.1931:0.8069:0.0:0.0	.	370;420	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	L	420	ENSP00000326706:S420L	ENSP00000326706:S420L	S	+	2	0	PLEKHO2	62944926	0.989000	0.36119	0.990000	0.47175	0.987000	0.75469	0.731000	0.26058	2.381000	0.81170	0.549000	0.68633	TCG		0.632	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		3	14	0	0	0	1	0	3	14					T	65157873	C	T	65157873	3	4	372	1	0	0	0	0	1	0	0	0	12085	893	31	1	1281	1	PLEKHO2	15	65157873	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	41346468	65157873	37373519	21	34265											
USP6	9098	broad.mit.edu	37	chr17	5066179	5066179	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctttcccccctttttagAttttgcagaggctgtaaaat	7	9	1	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:5066179A>G	ENST00000574788.1	+	33	5146	c.2916A>G	c.(2914-2916)agA>agG	p.R972R	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Splice_Site_p.R972R|USP6_ENST00000304328.5_Splice_Site_p.R655R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	972	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						CCCTTTTTAGATTTTGCAGAG	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				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						c.e33-1		ubiquitin specific peptidase 6 (Tre-2 oncogene)							96	104	101					17																	5066179		2203	4300	6503	SO:0001630	splice_region_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5066179A>G	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.2916-1A>G	17.37:g.5066179A>G						USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Splice_Site_p.R655_splice|USP6_ENST00000250066.6_Splice_Site_p.R972_splice	p.R972_splice			P35125	UBP6_HUMAN			33	5146	+			972					Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP	ENST00000574788.1	37	c.2915_splice	CCDS11069.2																																																																																				0.388	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	Silent	5	159	0	0	0	1	0	5	159					G	5066179	A	G	5066179	5	3	372	1	0	0	0	0	0	0	1	0	17083	347	12	3	3010	3	USP6	17	5066179	Splice_Site	SNP	A	TCGA-P5-A735-01A-11D-A32B-08		5066179	76129031	22	34266											
TP53	7157	broad.mit.edu	37	chr17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctctgtgcgccggTctctcccaggacaggcacaa	9	16	3	0	rs587781525		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7577096T>A	ENST00000269305.4	-	8	1031	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000420246.2_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(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)	TGTGCGCCGGTCTCTCCCAGG	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		44	Substitution - Missense(18)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)	p.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	haematopoietic_and_lymphoid_tissue(8)|upper_aerodigestive_tract(7)|breast(5)|lung(5)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|stomach(2)|urinary_tract(2)|oesophagus(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	GRCh37	CM004343|CM056068	TP53	M		c.(841-843)gAc>gTc	Other conserved DNA damage response genes	tumor protein p53							82	70	74					17																	7577096		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577096T>A	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.842A>T	17.37:g.7577096T>A	ENSP00000269305:p.Asp281Val	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)				TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V	p.D281V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	974	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.842A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794528	0.90453	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.37;-7.37;-7.37;-7.37;-7.37;-7.37	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	0.99876	0.9941	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.991	D;D;D;D	0.97110	0.99;1.0;0.99;0.99	D	0.96385	0.9284	10	0.87932	D	0	-25.6697	12.9367	0.58319	0.0:0.0:0.0:1.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	281;281;281;281;281;270;149	ENSP00000352610:D281V;ENSP00000269305:D281V;ENSP00000398846:D281V;ENSP00000391127:D281V;ENSP00000391478:D281V;ENSP00000425104:D149V	ENSP00000269305:D281V	D	-	2	0	TP53	7517821	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	26	0	0	0	1	0	10	26					A	7577096	T	A	7577096	3	1	372	1	0	0	0	0	1	0	0	0	16378	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	2510917	7577096	73618114	23	34267											
TP53	7157	broad.mit.edu	37	chr17	7579699	7579699	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaacccttgtccttaCcagaacgttgttttcaggaa	7	13	1	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7579699C>T	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*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)	CTTGTCCTTACCAGAACGTTG	0.597		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(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						c.e3+1	Other conserved DNA damage response genes	tumor protein p53							41	42	42					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579699C>T	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.96+1G>A	17.37:g.7579699C>T		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)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357778	0.82243	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	21	24	0	0	0	1	0	21	24					T	7579699	C	T	7579699	5	4	372	1	0	0	0	0	0	0	1	0	16378	521	18	2	1209	2	TP53	17	7579699	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	2603	7579699	73615511	24	34268											
MALT1	10892	broad.mit.edu	37	chr18	56363642	56363642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaaaggcagtcttggctGgacagtttgtgaaactgtgt	13	6	2	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr18:56363642G>A	ENST00000348428.3	+	3	679	c.421G>A	c.(421-423)Gga>Aga	p.G141R	MALT1_ENST00000345724.3_Missense_Mutation_p.G141R|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	141	Ig-like C2-type 1.				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						AGTCTTGGCTGGACAGTTTGT	0.313			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(421-423)Gga>Aga		mucosa associated lymphoid tissue lymphoma translocation gene 1							44	45	45					18																	56363642		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56363642G>A		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.421G>A	18.37:g.56363642G>A	ENSP00000319279:p.Gly141Arg					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G141R	p.G141R	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			3	679	+			141			Ig-like C2-type 1.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.421G>A	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343703	0.82022	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.61392	0.11;0.11	5.19	5.19	0.71726	Immunoglobulin subtype 2 (1);DEATH-like (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	H	0.95780	3.72	0.49213	D	0.999769	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88552	0.3117	10	0.87932	D	0	.	17.8512	0.88747	0.0:0.0:1.0:0.0	.	141;141	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	R	141	ENSP00000319279:G141R;ENSP00000304161:G141R	ENSP00000304161:G141R	G	+	1	0	MALT1	54514622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.417000	0.80156	2.581000	0.87130	0.557000	0.71058	GGA		0.313	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			3	41	0	0	0	1	0	3	41					A	56363642	G	A	56363642	3	1	372	1	0	0	0	0	1	0	0	0	9202	1349	47	2	431	2	MALT1	18	56363642	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		56363642	21713606	25	34269											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531821	7531821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggaggcgccaggcacGgaatccgatccccgtctgcc	14	15	1	0	rs79986215	byFrequency	TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:7531821G>A	ENST00000359920.6	+	14	2611	c.2358G>A	c.(2356-2358)acG>acA	p.T786T	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R744Q|ARHGEF18_ENST00000319670.9_Silent_p.T628T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	786					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 cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CGCCAGGCACGGAATCCGATC	0.627													G|||	60	0.0119808	0.0121	0.0	5008	,	,		13572	0.0069		0.007	False		,,,				2504	0.0307					ENST00000593531.1																			0											c.(2230-2232)cGg>cAg				G	,	18,4388	25.3+/-52.1	0,18,2185	77	79	79		2358,1884	-7.5	0	19	dbSNP_131	79	20,8580	14.0+/-48.4	0,20,4280	no	coding-synonymous,coding-synonymous	ARHGEF18	NM_001130955.1,NM_015318.3	,	0,38,6465	AA,AG,GG		0.2326,0.4085,0.2922	,	786/1174,628/1016	7531821	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7531821G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2358G>A	19.37:g.7531821G>A						ARHGEF18_ENST00000359920.6_Silent_p.T786T|ARHGEF18_ENST00000319670.9_Silent_p.T628T	p.R744Q							17	2231	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2231G>A	CCDS45946.1																																																																																				0.627	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		37	52	0	0	0	1	0	37	52					A	7531821	G	A	7531821	2	1	372	1	0	0	0	0	0	0	0	1	901	1103	39	1		1	ARHGEF18	19	7531821	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		7531821	51597162	26	34270											
FCGBP	8857	broad.mit.edu	37	chr19	40368644	40368644	+	Frame_Shift_Del	DEL	A	A	-													agatgggtatggagggagccAgtgtgccattagggaagacc							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:40368644delA	ENST00000221347.6	-	28	12711	c.12704delT	c.(12703-12705)ctgfs	p.L4235fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4235	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			GGAGGGAGCCAGTGTGCCATT	0.642																																						ENST00000221347.6																			0				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						c.(12703-12705)cgfs		Fc fragment of IgG binding protein							20	23	22					19																	40368644		2200	4273	6473	SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40368644delA	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.12704delT	19.37:g.40368644delA	ENSP00000221347:p.Leu4235fs						p.L4235fs	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12711	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4235			VWFD 10.		O95784	Frame_Shift_Del	DEL	ENST00000221347.6	37	c.12704delT	CCDS12546.1																																																																																				0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		28	81						28	81	---	---	---	---	-	40368644	A	-	40368644	7	5	372	1	0	1	0	1	0	0	0	0	5778	188	7	0	3549	0	FCGBP	19	40368644	Frame_Shift_Del	DEL	A	TCGA-P5-A735-01A-11D-A32B-08	32836823	40368644	18760339	27	34271											
PLEKHA4	57664	broad.mit.edu	37	chr19	49348627	49348627	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggatggacctacagcttacCttggttcctagctgtgggga	13	9	0	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:49348627C>G	ENST00000263265.6	-	16	2298	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PLEKHA4_ENST00000355496.5_Splice_Site_p.K556N	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	581						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)		TACAGCTTACCTTGGTTCCTA	0.572																																						ENST00000263265.6																			0				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						c.e16+1		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							95	94	94					19																	49348627		2203	4300	6503	SO:0001630	splice_region_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49348627C>G	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.1743+1G>C	19.37:g.49348627C>G						PLEKHA4_ENST00000355496.5_Splice_Site_p.K556_splice	p.K581_splice	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	16	2298	-		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)	581					Q8N4M8|Q8N658	Splice_Site	SNP	ENST00000263265.6	37	c.1743_splice	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870422	0.51588	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.25085	1.82;1.82	4.97	4.97	0.65823	.	0.158349	0.29715	N	0.011391	T	0.37433	0.1003	L	0.29908	0.895	0.32905	D	0.513794	D;D	0.76494	0.999;0.989	D;P	0.80764	0.994;0.688	T	0.33599	-0.9862	9	.	.	.	.	14.5344	0.67950	0.0:1.0:0.0:0.0	.	556;581	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	N	581;556	ENSP00000263265:K581N;ENSP00000347683:K556N	.	K	-	3	2	PLEKHA4	54040439	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	3.071000	0.50041	2.702000	0.92279	0.544000	0.68410	AAG		0.572	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		Missense_Mutation	19	34	0	0	0	1	0	19	34					G	49348627	C	G	49348627	5	3	372	1	0	0	0	0	0	0	1	0	12058	695	24	4	616	4	PLEKHA4	19	49348627	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	8979983	49348627	9780356	28	34272											
LBP	3929	broad.mit.edu	37	chr20	36993276	36993276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagttaccctccttgCtgcagtcatgagccttcctg	7	15	2	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr20:36993276C>T	ENST00000217407.2	+	8	952	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	264					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACCCTCCTTGCTGCAGTCATG	0.488																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(790-792)gCt>gTt		lipopolysaccharide binding protein							194	178	183					20																	36993276		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36993276C>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.791C>T	20.37:g.36993276C>T	ENSP00000217407:p.Ala264Val						p.A264V	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			8	952	+		Myeloproliferative disorder(115;0.00878)	264					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.791C>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756515	0.69648	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.09911	2.93	5.55	4.61	0.57282	Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.320352	0.30285	N	0.009973	T	0.21550	0.0519	M	0.75264	2.295	0.09310	N	0.999995	P	0.38473	0.633	P	0.46208	0.507	T	0.04915	-1.0918	10	0.48119	T	0.1	-6.8801	12.1245	0.53909	0.0:0.9179:0.0:0.0821	.	264	P18428	LBP_HUMAN	V	264	ENSP00000217407:A264V	ENSP00000217407:A264V	A	+	2	0	LBP	36426690	0.012000	0.17670	0.103000	0.21229	0.031000	0.12232	2.130000	0.42064	1.580000	0.49851	0.655000	0.94253	GCT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		57	66	0	0	0	1	0	57	66					T	36993276	C	T	36993276	3	4	372	1	0	0	0	0	1	0	0	0	8651	797	28	2	821	2	LBP	20	36993276	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08		36993276	26032244	29	34273											
SEZ6L	23544	broad.mit.edu	37	chr22	26688782	26688783	+	Frame_Shift_Ins	INS	-	-	ACCCGGACCCC													gaagcctggcccaccgggggINSacccggaccccatcgtggcc							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr22:26688782_26688783insACCCGGACCCC	ENST00000248933.6	+	2	600_601	c.505_506insACCCGGACCCC	c.(505-507)gacfs	p.-172fs	SEZ6L_ENST00000529632.2_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-172fs			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like						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						CCCACCGGGGGACCCGGACCCC	0.668																																						ENST00000529632.2																			0				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						c.(505-507)cccfs		seizure related 6 homolog (mouse)-like																																				SO:0001589	frameshift_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688782_26688783insACCCGGACCCC	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.506_516dupACCCGGACCCC	22.37:g.26688783_26688793dupACCCGGACCCC	ENSP00000248933:p.Pro172fs					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-168fs	p.-168fs	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	701_702	+								A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Frame_Shift_Ins	INS	ENST00000248933.6	37	c.505_506insACCCGGACCCC	CCDS13833.1																																																																																				0.668	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			11	40						11	40	---	---	---	---	ACCCGGACCCC	26688783	-	ACCCGGACCCC	26688782	7	5	372	1	0	1	1	0	0	0	0	0	14143	1174	41	0	511	0	SEZ6L	22	26688782	Frame_Shift_Ins	INS	-	TCGA-P5-A735-01A-11D-A32B-08		26688782	24615784	30	34274											
ATRX	546	broad.mit.edu	37	chrX	76940492	76940493	+	Frame_Shift_Ins	INS	-	-	G													tcactcatgtaatacttaaaINSgcaattctattaaaagaaaa							TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:76940492_76940493insG	ENST00000373344.5	-	8	814_815	c.600_601insC	c.(598-603)tgctttfs	p.F201fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F163fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	201	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TAATACTTAAAGCAATTCTATT	0.292			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(598-603)tgttaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940492_76940493insG	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.601dupC	X.37:g.76940493_76940493dupG	ENSP00000362441:p.Phe201fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*163fs	p.*201fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	814_815	-			201			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.600_601insC	CCDS14434.1																																																																																				0.292	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		63	78						63	78	---	---	---	---	G	76940493	-	G	76940492	7	5	372	1	0	1	1	0	0	0	0	0	1208	72	3	0	6989	0	ATRX	23	76940492	Frame_Shift_Ins	INS	-	TCGA-P5-A735-01A-11D-A32B-08		76940492	78330068	31	34275											
ELF4	2000	broad.mit.edu	37	chrX	129205311	129205311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcccagctgtccatacCtttgccatcctttgatttct	6	13	1	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:129205311C>T	ENST00000308167.5	-	6	995	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	ELF4_ENST00000335997.7_Splice_Site_p.G206S	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTCCATACCTTTGCCATCC	0.612			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.e6+1		E74-like factor 4 (ets domain transcription factor)							148	105	120					X																	129205311		2203	4300	6503	SO:0001630	splice_region_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205311C>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.616+1G>A	X.37:g.129205311C>T						ELF4_ENST00000335997.7_Splice_Site_p.G206_splice	p.G206_splice	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			6	995	-			206			RUNX1-binding.			Splice_Site	SNP	ENST00000308167.5	37	c.616_splice	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305997	0.95629	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.26957	1.7;1.7	5.45	5.45	0.79879	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.61218	1.895	0.80722	D	1	D	0.64830	0.994	D	0.72982	0.979	T	0.37934	-0.9684	9	.	.	.	.	15.6014	0.76628	0.0:1.0:0.0:0.0	.	206	Q99607	ELF4_HUMAN	S	206	ENSP00000338608:G206S;ENSP00000311280:G206S	.	G	-	1	0	ELF4	129032992	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.721000	0.54941	2.278000	0.76064	0.513000	0.50165	GGC		0.612	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	Missense_Mutation	10	23	0	0	0	1	0	10	23					T	129205311	C	T	129205311	5	4	372	1	0	0	0	0	0	0	1	0	5056	695	24	2	1391	2	ELF4	23	129205311	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	52264819	129205311	26065249	32	34276											
L1CAM	3897	broad.mit.edu	37	chrX	153133835	153133835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcaaggaggggtcaaagGaggcctggcacgtgaaggtc	18	8	1	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:153133835G>A	ENST00000370060.1	-	14	1814	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F|L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	542	Ig-like C2-type 6.		S -> P (in HSAS). {ECO:0000269|PubMed:9268105}.		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)					GGGGTCAAAGGAGGCCTGGCA	0.602																																						ENST00000370060.1																			0				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						c.(1624-1626)tCc>tTc		L1 cell adhesion molecule							145	148	147					X																	153133835		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133835G>A	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.1625C>T	X.37:g.153133835G>A	ENSP00000359077:p.Ser542Phe					L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F	p.S542F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			14	1814	-	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)		542		S -> P (in HSAS).	Ig-like C2-type 6.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1625C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959316	0.53400	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.62	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.675760	0.13818	N	0.360635	T	0.61476	0.2350	L	0.48642	1.525	0.37691	D	0.92384	B;B;B	0.30179	0.166;0.271;0.2	B;B;B	0.36289	0.141;0.111;0.221	T	0.66571	-0.5890	10	0.66056	D	0.02	.	7.7644	0.28972	0.0:0.1724:0.6459:0.1817	.	537;542;542	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	F	542;544;542;544;537;537;542	ENSP00000359077:S542F;ENSP00000438430:S544F;ENSP00000359074:S542F;ENSP00000439645:S544F;ENSP00000354712:S537F;ENSP00000359072:S537F;ENSP00000355380:S542F	ENSP00000355380:S542F	S	-	2	0	L1CAM	152787029	0.878000	0.30173	1.000000	0.80357	0.997000	0.91878	1.527000	0.35975	2.374000	0.81015	0.529000	0.55759	TCC		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		72	108	0	0	0	1	0	72	108					A	153133835	G	A	153133835	3	1	372	1	0	0	0	0	1	0	0	0	8588	1174	41	2	2212	2	L1CAM	23	153133835	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08	23928524	153133835	2136725	33	34277											
RYR2	6262	broad.mit.edu	37	chr1	237890418	237890418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagagatctaaaaaggctgTatggcataaactactgtcca	8	8	2	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:237890418T>C	ENST00000366574.2	+	76	11074	c.10757T>C	c.(10756-10758)gTa>gCa	p.V3586A	RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A|RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3586	Interaction with CALM.				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)			AAAAAGGCTGTATGGCATAAA	0.393																																						ENST00000366574.2																			0				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						c.(10756-10758)gTa>gCa		ryanodine receptor 2 (cardiac)							85	82	83					1																	237890418		1846	4084	5930	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237890418T>C	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.10757T>C	1.37:g.237890418T>C	ENSP00000355533:p.Val3586Ala					RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A|RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A	p.V3586A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		76	11074	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3586					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10757T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727365	0.48833	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96802	-4.13;-4.1;-4.12	4.98	4.98	0.66077	.	0.000000	0.50627	U	0.000101	D	0.97046	0.9035	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.96455	0.9337	10	0.33940	T	0.23	-16.018	14.9985	0.71451	0.0:0.0:0.0:1.0	.	3586	Q92736	RYR2_HUMAN	A	3586;3584;3570;541	ENSP00000355533:V3586A;ENSP00000353174:V3584A;ENSP00000443798:V3570A	ENSP00000353174:V3584A	V	+	2	0	RYR2	235957041	1.000000	0.71417	0.079000	0.20413	0.866000	0.49608	7.997000	0.88414	2.005000	0.58758	0.528000	0.53228	GTA		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	37	0	0	0	1	0	4	37					C	237890418	T	C	237890418	3	2	373	1	0	0	0	0	1	0	0	0	13769	1638	57	3	11059	3	RYR2	1	237890418	Missense_Mutation	SNP	T	TCGA-P5-A736-01A-11D-A32B-08		237890418	11360203	1	34278											
GPR75	10936	broad.mit.edu	37	chr2	54081033	54081033	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttgggactcttggtataTccacgggtctgaacgtgctg	14	8	2	1	rs369707376		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:54081033T>C	ENST00000394705.2	-	2	1131	c.861A>G	c.(859-861)ggA>ggG	p.G287G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	287					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTTGGTATATCCACGGGTCT	0.562																																						ENST00000394705.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(859-861)ggA>ggG		G protein-coupled receptor 75		T	,	0,4406		0,0,2203	170	148	155		,861	-9.2	0.7	2		155	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	GPR75,GPR75-ASB3	NM_001164165.1,NM_006794.3	,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,	,287/541	54081033	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081033T>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.861A>G	2.37:g.54081033T>C						ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	p.G287G	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1131	-			287					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.861A>G	CCDS1849.1																																																																																				0.562	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			4	19	0	0	0	1	0	4	19					C	54081033	T	C	54081033	2	2	373	1	0	0	0	0	0	0	0	1	6708	1422	50	3		3	GPR75	2	54081033	Silent	SNP	T	TCGA-P5-A736-01A-11D-A32B-08		54081033	189118340	2	34279											
TTC21B	79809	broad.mit.edu	37	chr2	166747103	166747103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccagtcacgatctttcCgagctttattaaaatgtcga	8	11	2	0	rs144103331		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:166747103C>T	ENST00000243344.7	-	24	3286	c.3149G>A	c.(3148-3150)cGg>cAg	p.R1050Q	TTC21B_ENST00000536175.1_5'UTR	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1050					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.R1050Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACGATCTTTCCGAGCTTTATT	0.343																																						ENST00000243344.7																			1	Substitution - Missense(1)	p.R1050Q(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3148-3150)cGg>cAg		tetratricopeptide repeat domain 21B		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77	75	76		3149	5.7	1	2	dbSNP_134	76	0,8600		0,0,4300	no	missense	TTC21B	NM_024753.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1050/1317	166747103	1,13005	2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747103C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3149G>A	2.37:g.166747103C>T	ENSP00000243344:p.Arg1050Gln					TTC21B_ENST00000536175.1_5'UTR	p.R1050Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			24	3286	-			1050					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3149G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	35	5.550226	0.96501	2.27E-4	0.0	ENSG00000123607	ENST00000243344	T	0.63255	-0.03	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86464	0.1781	10	0.72032	D	0.01	-17.9488	19.8361	0.96658	0.0:1.0:0.0:0.0	.	1050	Q7Z4L5	TT21B_HUMAN	Q	1050	ENSP00000243344:R1050Q	ENSP00000243344:R1050Q	R	-	2	0	TTC21B	166455349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.802000	0.85969	2.703000	0.92315	0.637000	0.83480	CGG		0.343	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		4	54	0	0	0	1	0	4	54					T	166747103	C	T	166747103	3	4	373	1	0	0	0	0	1	0	0	0	16685	652	23	1	825	1	TTC21B	2	166747103	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	112666070	166747103	76452270	3	34280											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	29	0	0	0	1	0	20	29					T	209113112	C	T	209113112	3	4	373	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	42366009	209113112	34086261	4	34281											
WNT7A	7476	broad.mit.edu	37	chr3	13916574	13916574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgacgatgatggcgtcGggccggctctggcagatcgc	15	12	1	3	rs145281257	byFrequency	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:13916574G>A	ENST00000285018.4	-	2	472	c.168C>T	c.(166-168)ccC>ccT	p.P56P	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	56					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|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)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGATGGCGTCGGGCCGGCTCT	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		18170	0.0		0.002	False		,,,				2504	0.0					ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(166-168)ccC>ccT		wingless-type MMTV integration site family, member 7A							56	53	54					3																	13916574		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916574G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.168C>T	3.37:g.13916574G>A						WNT7A_ENST00000497808.1_5'UTR	p.P56P	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			2	472	-			56					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.168C>T	CCDS2616.1																																																																																				0.602	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		6	36	0	0	0	1	0	6	36					A	13916574	G	A	13916574	2	1	373	1	0	0	0	0	0	0	0	1	17391	1103	39	1		1	WNT7A	3	13916574	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		13916574	184105856	5	34282											
TMEM14E	645843	broad.mit.edu	37	chr3	152058331	152058331	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatttttaattcttcatgagTccaagctgagacatagctac	7	8	2	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:152058331T>C	ENST00000408960.3	-	1	448	c.363A>G	c.(361-363)ggA>ggG	p.G121G	MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485910.1_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	121						integral component of membrane (GO:0016021)				lung(1)	1						TCTTCATGAGTCCAAGCTGAG	0.348																																						ENST00000408960.3																			0				lung(1)	1						c.(361-363)ggA>ggG		transmembrane protein 14E							83	80	81					3																	152058331		1568	3582	5150	SO:0001819	synonymous_variant	645843					integral to membrane		g.chr3:152058331T>C		CCDS43161.1	3q25.1	2011-09-15			ENSG00000221962	ENSG00000221962			34386	protein-coding gene	gene with protein product							Standard	NM_001123228		Approved		uc010hvo.3	Q6UXP3	OTTHUMG00000159652	ENST00000408960.3:c.363A>G	3.37:g.152058331T>C						MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000282488.7_Intron	p.G121G	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN			1	448	-			121						Silent	SNP	ENST00000408960.3	37	c.363A>G	CCDS43161.1																																																																																				0.348	TMEM14E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356703.1	NM_001123228		6	90	0	0	0	1	0	6	90					C	152058331	T	C	152058331	2	2	373	1	0	0	0	0	0	0	0	1	16063	1654	58	3		3	TMEM14E	3	152058331	Silent	SNP	T	TCGA-P5-A736-01A-11D-A32B-08	138141757	152058331	45964099	6	34283											
ADAMTS3	9508	broad.mit.edu	37	chr4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagatctatgaaggtccGcgacttggcttcctcccctt	8	14	1	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			1	Substitution - Missense(1)	p.R775W(1)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2323-2325)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							206	205	205					4																	73169735		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169735G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2323C>T	4.37:g.73169735G>A	ENSP00000286657:p.Arg775Trp						p.R775W	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2359	-			775			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2323C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534517	0.64972	.	.	ENSG00000156140	ENST00000286657	T	0.54675	0.56	5.57	1.66	0.24008	ADAM-TS Spacer 1 (1);	0.157146	0.41823	D	0.000807	T	0.67069	0.2854	M	0.67700	2.07	0.30719	N	0.748409	D	0.61697	0.99	D	0.63597	0.916	T	0.71570	-0.4553	10	0.66056	D	0.02	.	15.0957	0.72232	0.0:0.0:0.4863:0.5137	.	775	O15072	ATS3_HUMAN	W	775	ENSP00000286657:R775W	ENSP00000286657:R775W	R	-	1	2	ADAMTS3	73388599	0.248000	0.23930	0.033000	0.17914	0.915000	0.54546	1.548000	0.36201	-0.011000	0.14247	-0.182000	0.12963	CGG		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	165	0	0	0	1	0	5	165					A	73169735	G	A	73169735	3	1	373	1	0	0	0	0	1	0	0	0	267	1086	38	1	1318	1	ADAMTS3	4	73169735	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		73169735	117984541	7	34284											
ANKRD56	345079	broad.mit.edu	37	chr4	77817919	77817922	+	Frame_Shift_Del	DEL	AGAG	AGAG	-													ctcatccggaacaacaggaaAgagagagtgcgaggaaagac							TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:77817919_77817922delAGAG	ENST00000334306.2	-	1	1080_1083	c.1081_1084delCTCT	c.(1081-1086)ctctttfs	p.LF361fs		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	361																	ACAACAGGAAAGAGAGAGTGCGAG	0.578																																						ENST00000334306.2																			0											c.(1081-1086)ttfs		sosondowah ankyrin repeat domain family member B																																				SO:0001589	frameshift_variant	345079							g.chr4:77817919_77817922delAGAG		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1081_1084delCTCT	4.37:g.77817923_77817926delAGAG	ENSP00000334879:p.Leu361fs						p.LF361fs	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1080_1083	-			361					B2RP29	Frame_Shift_Del	DEL	ENST00000334306.2	37	c.1081_1084delCTCT	CCDS34017.1																																																																																				0.578	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		8	120						8	120	---	---	---	---	-	77817922	AGAG	-	77817919	7	5	373	1	0	1	0	1	0	0	0	0	682	72	3	0	1301	0	ANKRD56	4	77817919	Frame_Shift_Del	DEL	AGAG	TCGA-P5-A736-01A-11D-A32B-08	4648184	77817919	113336357	8	34285											
UGT3A2	167127	broad.mit.edu	37	chr5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatagggcttgaggtgcGtcgcgccccctgtctggagg	16	11	1	2	rs199567567		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					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)			CTTGAGGTGCGTCGCGCCCCC	0.627																																						ENST00000282507.3																			0				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						c.(1405-1407)aCg>aTg		UDP glycosyltransferase 3 family, polypeptide A2		G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	54	48	50		1304,1406	1.9	0	5		50	0,8600		0,0,4300	no	missense,missense	UGT3A2	NM_001168316.1,NM_174914.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	435/490,469/524	36035966	2,13004	2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035966G>A		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.1406C>T	5.37:g.36035966G>A	ENSP00000282507:p.Thr469Met					UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	p.T469M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1507	-	all_lung(31;0.000179)		469					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1406C>T	CCDS3914.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.410	0.075871	0.08485	4.54E-4	0.0	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.59772	0.24;0.24;0.24	2.74	1.86	0.25419	.	0.469551	0.17381	U	0.176282	T	0.50480	0.1618	L	0.43923	1.385	0.09310	N	1	P;P	0.42908	0.688;0.793	P;B	0.46144	0.505;0.436	T	0.42816	-0.9429	10	0.72032	D	0.01	.	5.1652	0.15082	0.1188:0.0:0.6791:0.2021	.	435;469	E9PFK7;Q3SY77	.;UD3A2_HUMAN	M	469;435;167	ENSP00000282507:T469M;ENSP00000427404:T435M;ENSP00000445367:T167M	ENSP00000282507:T469M	T	-	2	0	UGT3A2	36071723	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.542000	0.23222	0.717000	0.32145	-0.222000	0.12452	ACG		0.627	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		4	22	0	0	0	1	0	4	22					A	36035966	G	A	36035966	3	1	373	1	0	0	0	0	1	0	0	0	16961	1145	40	1	169	1	UGT3A2	5	36035966	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		36035966	144879294	9	34286											
F2RL1	2150	broad.mit.edu	37	chr5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctttgccgaagtgtccGcactgtaaagcagatgcaag	10	11	1	1	rs149001132		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						ENST00000296677.4																			1	Substitution - Missense(1)	p.R365H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1093-1095)cGc>cAc		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221	222	222		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His						p.R365H	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1300	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			55	198	0	0	0	1	0	55	198					A	76129526	G	A	76129526	3	1	373	1	0	0	0	0	1	0	0	0	5344	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	40093560	76129526	104785734	10	34287											
PCDHB8	56128	broad.mit.edu	37	chr5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggcgcttcagaccgcGgctccccggctttgagcagc	16	14	1	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	538	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(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1612-1614)Ggc>Agc									66	113	97					5																	140559227		2203	4299	6502	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559227G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1612G>A	5.37:g.140559227G>A	ENSP00000239444:p.Gly538Ser						p.G538S	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1857	+			538			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1612G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376331	0.61735	.	.	ENSG00000120322	ENST00000239444	T	0.01647	4.71	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17831	0.0428	H	0.95850	3.73	0.51012	D	0.999906	D	0.89917	1.0	D	0.87578	0.998	T	0.30650	-0.9971	9	0.87932	D	0	.	16.2834	0.82708	0.0:0.0:1.0:0.0	.	538	Q9UN66	PCDB8_HUMAN	S	538	ENSP00000239444:G538S	ENSP00000239444:G538S	G	+	1	0	PCDHB8	140539411	1.000000	0.71417	0.942000	0.38095	0.031000	0.12232	9.342000	0.97044	1.915000	0.55452	0.298000	0.19748	GGC		0.667	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		4	209	0	0	0	1	0	4	209					A	140559227	G	A	140559227	3	1	373	1	0	0	0	0	1	0	0	0	11548	1116	39	1	1614	1	PCDHB8	5	140559227	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	64429701	140559227	40356033	11	34288											
GRIA1	2890	broad.mit.edu	37	chr5	153054155	153054155	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagacactattccggccaaGatcatgcagcagtggaagaa	10	10	1	3			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:153054155G>C	ENST00000285900.5	+	6	1138	c.795G>C	c.(793-795)aaG>aaC	p.K265N	GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	265					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|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)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTCCGGCCAAGATCATGCAGC	0.527																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(793-795)aaG>aaC		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						168	155	159					5																	153054155		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153054155G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.795G>C	5.37:g.153054155G>C	ENSP00000285900:p.Lys265Asn					GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N	p.K265N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		6	1138	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	265					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.795G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336091	0.41398	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.56	3.32	0.38043	Extracellular ligand-binding receptor (1);	0.211943	0.44483	D	0.000445	T	0.69940	0.3167	N	0.20685	0.6	0.28645	N	0.906954	B;B;B;B;B;B	0.31817	0.341;0.341;0.003;0.341;0.103;0.003	B;B;B;B;B;B	0.32864	0.154;0.154;0.015;0.154;0.043;0.009	T	0.64411	-0.6414	10	0.66056	D	0.02	.	8.0133	0.30365	0.2904:0.0:0.7096:0.0	.	275;275;185;275;265;265	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	N	265;265;185;219;265;196;196;275;275	ENSP00000285900:K265N;ENSP00000427920:K185N;ENSP00000339343:K265N;ENSP00000427864:K196N;ENSP00000442108:K196N;ENSP00000428994:K275N;ENSP00000415569:K275N	ENSP00000285900:K265N	K	+	3	2	GRIA1	153034348	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.316000	0.33620	0.443000	0.26582	0.655000	0.94253	AAG		0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	112	0	0	0	1	0	4	112					C	153054155	G	C	153054155	3	2	373	1	0	0	0	0	1	0	0	0	6767	933	33	4	817	4	GRIA1	5	153054155	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	12494928	153054155	27861105	12	34289											
MAP7	9053	broad.mit.edu	37	chr6	136686877	136686877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtttgctcttaccaggGccaacttctggttcagcagg	12	10	3	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:136686877G>A	ENST00000354570.3	-	10	1679	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	MAP7_ENST00000432797.2_Silent_p.G277G|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000438100.2_Silent_p.G408G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	423	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTTACCAGGGCCAACTTCTG	0.463																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1267-1269)ggC>ggT		microtubule-associated protein 7							68	74	72					6																	136686877		2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136686877G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1269C>T	6.37:g.136686877G>A						MAP7_ENST00000432797.2_Silent_p.G277G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000438100.2_Silent_p.G408G	p.G423G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	10	1679	-	Colorectal(23;0.24)		423			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1269C>T	CCDS5178.1																																																																																				0.463	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		3	47	0	0	0	1	0	3	47					A	136686877	G	A	136686877	2	1	373	1	0	0	0	0	0	0	0	1	9266	1190	42	2		2	MAP7	6	136686877	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		136686877	34428190	13	34290											
ZNF273	10793	broad.mit.edu	37	chr7	64388965	64388966	+	Frame_Shift_Del	DEL	AT	AT	-													gtccacaactcttactaaacAtaagagaatttatactaaag					rs544422858		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:64388965_64388966delAT	ENST00000476120.1	+	4	1330_1331	c.1259_1260delAT	c.(1258-1260)catfs	p.H420fs	ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	420					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)				CTTACTAAACATAAGAGAATTT	0.337																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				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						c.(1258-1260)cfs		zinc finger protein 273																																				SO:0001589	frameshift_variant	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388965_64388966delAT	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.1259_1260delAT	7.37:g.64388965_64388966delAT	ENSP00000418719:p.His420fs					ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs|ZNF273_ENST00000527278.1_3'UTR	p.H420fs	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1330_1331	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	420					B3KQZ5|Q6P3V4	Frame_Shift_Del	DEL	ENST00000476120.1	37	c.1259_1260delAT	CCDS5528.2																																																																																				0.337	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			7	33						7	33	---	---	---	---	-	64388966	AT	-	64388965	7	5	373	1	0	1	0	1	0	0	0	0	17805	217	8	0	1273	0	ZNF273	7	64388965	Frame_Shift_Del	DEL	AT	TCGA-P5-A736-01A-11D-A32B-08		64388965	94749698	14	34291											
PCLO	27445	broad.mit.edu	37	chr7	82595691	82595691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatgattctgtaggaacaGgcataggagatgctttgggt	14	4	1	3			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:82595691G>T	ENST00000333891.9	-	4	3750	c.3413C>A	c.(3412-3414)cCt>cAt	p.P1138H	PCLO_ENST00000423517.2_Missense_Mutation_p.P1138H	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						TGTAGGAACAGGCATAGGAGA	0.428																																						ENST00000423517.2																			0				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						c.(3412-3414)cCt>cAt		piccolo presynaptic cytomatrix protein							126	122	123					7																	82595691		2017	4181	6198	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595691G>T	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.3413C>A	7.37:g.82595691G>T	ENSP00000334319:p.Pro1138His					PCLO_ENST00000333891.8_Missense_Mutation_p.P1138H	p.P1138H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3750	-			1077						Missense_Mutation	SNP	ENST00000333891.9	37	c.3413C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759884	0.15846	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.59	5.59	0.84812	.	.	.	.	.	T	0.22085	0.0532	L	0.29908	0.895	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.52267	0.694;0.694	T	0.00314	-1.1824	9	0.87932	D	0	.	14.1646	0.65469	0.0717:0.0:0.9283:0.0	.	1138;1138	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1077;1138;1138	ENSP00000334319:P1138H;ENSP00000388393:P1138H	ENSP00000334319:P1138H	P	-	2	0	PCLO	82433627	1.000000	0.71417	0.698000	0.30274	0.022000	0.10575	6.995000	0.76257	2.763000	0.94921	0.655000	0.94253	CCT		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	53	1	0	0.00307968	1	0.00322633	6	53					T	82595691	G	T	82595691	3	4	373	1	0	0	0	0	1	0	0	0	11583	1000	35	4	12120	4	PCLO	7	82595691	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	18206726	82595691	76542972	15	34292											
STEAP4	79689	broad.mit.edu	37	chr7	87913524	87913525	+	Frame_Shift_Del	DEL	TC	TC	-													agttccaaaaatacatacagTctcttgcttttctgaagaat					rs201913238		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:87913524_87913525delTC	ENST00000380079.4	-	2	161_162	c.60_61delGA	c.(58-63)gagactfs	p.ET20fs	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	20					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATACATACAGTCTCTTGCTTTT	0.347																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(58-63)gactfs		STEAP family member 4																																				SO:0001589	frameshift_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913524_87913525delTC	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.60_61delGA	7.37:g.87913526_87913527delTC	ENSP00000369419:p.Glu20fs					AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000600908.1_RNA	p.ET20fs	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			2	161_162	-	Esophageal squamous(14;0.00802)		20					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Frame_Shift_Del	DEL	ENST00000380079.4	37	c.60_61delGA	CCDS43611.1																																																																																				0.347	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		7	53						7	53	---	---	---	---	-	87913525	TC	-	87913524	7	5	373	1	0	1	0	1	0	0	0	0	15279	1667	58	0	1334	0	STEAP4	7	87913524	Frame_Shift_Del	DEL	TC	TCGA-P5-A736-01A-11D-A32B-08	5317833	87913524	71225139	16	34293											
ARPC1A	10552	broad.mit.edu	37	chr7	98935818	98935818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccagagattgccctcagtCccaataatcacgaagtgcac	7	14	2	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:98935818C>A	ENST00000262942.5	+	3	203	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	27					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCCTCAGTCCCAATAATCA	0.448																																						ENST00000262942.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(79-81)Ccc>Acc		actin related protein 2/3 complex, subunit 1A, 41kDa							70	57	62					7																	98935818		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98935818C>A	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	703	protein-coding gene	gene with protein product	"actin binding protein (Schizosaccharomyces pombe sop2-like)", "SOP2-like protein"	604220	"actin related protein 2/3 complex, subunit 1A (41 kD)"			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.79C>A	7.37:g.98935818C>A	ENSP00000262942:p.Pro27Thr					ARPC1A_ENST00000432884.2_5'UTR	p.P27T	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	203	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		27					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.79C>A	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504872	0.85176	.	.	ENSG00000241685	ENST00000262942	T	0.63417	-0.04	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.987;0.994	T	0.80906	-0.1173	10	0.51188	T	0.08	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	22;27	Q53GB6;Q92747	.;ARC1A_HUMAN	T	27	ENSP00000262942:P27T	ENSP00000262942:P27T	P	+	1	0	ARPC1A	98773754	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.708000	0.84633	2.804000	0.96469	0.655000	0.94253	CCC		0.448	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		3	22	1	0	0.00909568	1	0.00909568	3	22					A	98935818	C	A	98935818	3	1	373	1	0	0	0	0	1	0	0	0	969	855	30	4	85	4	ARPC1A	7	98935818	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	11022294	98935818	60202845	17	34294											
IRF5	3663	broad.mit.edu	37	chr7	128587366	128587366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccactctgcagccgccCactctgcggccgcctactct	8	22	3	0	rs534043449|rs199508964|rs60344245	byFrequency	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:128587366C>T	ENST00000402030.2	+	6	588	c.516C>T	c.(514-516)ccC>ccT	p.P172P	IRF5_ENST00000249375.4_Silent_p.P172P|IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000477535.1_Intron	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	172					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCAGCCGCCCACTCTGCGGC	0.657													C|||	3	0.000599042	0.0	0.0014	5008	,	,		12915	0.001		0.001	False		,,,				2504	0.0					ENST00000402030.2																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(514-516)ccC>ccT		interferon regulatory factor 5							8	9	9					7																	128587366		2090	4208	6298	SO:0001819	synonymous_variant	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587366C>T		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.516C>T	7.37:g.128587366C>T						IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000249375.4_Silent_p.P172P|IRF5_ENST00000477535.1_Intron	p.P172P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN			6	588	+			172	EDVKWPPTLQPPTLR -> DAVQSGPHMTPYSLLKEDVKW (in Ref. 1; AAA96056).				A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	c.516C>T	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	C	3.008	-0.204506	0.06180	.	.	ENSG00000128604	ENST00000430204	.	.	.	.	.	.	.	0.400804	0.18480	N	0.139975	T	0.13286	0.0322	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	T	0.29792	-1.0000	4	0.07644	T	0.81	.	.	.	.	.	161	E9PC81	.	L	161	.	ENSP00000409106:P161L	P	+	2	0	IRF5	128374602	0.023000	0.18921	0.251000	0.24312	0.062000	0.15995	0.105000	0.15333	0.119000	0.18210	0.121000	0.15741	CCA		0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		4	15	0	0	0	1	0	4	15					T	128587366	C	T	128587366	2	4	373	1	0	0	0	0	0	0	0	1	7833	581	21	2		2	IRF5	7	128587366	Silent	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	29651548	128587366	30551297	18	34295											
KANK1	23189	broad.mit.edu	37	chr9	742321	742321	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacgagggctccacggccctCatgtgtgccagcgagcacgg	15	14	1	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:742321C>G	ENST00000382303.1	+	14	4465	c.3813C>G	c.(3811-3813)ctC>ctG	p.L1271L	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000382293.3_Silent_p.L1113L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1271	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCACGGCCCTCATGTGTGCCA	0.602																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3811-3813)ctC>ctG		KN motif and ankyrin repeat domains 1							77	76	76					9																	742321		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:742321C>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3813C>G	9.37:g.742321C>G						KANK1_ENST00000382293.3_Silent_p.L1113L|KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000489369.1_3'UTR	p.L1271L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	14	4465	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1271					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3813C>G	CCDS34976.1																																																																																				0.602	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		3	47	0	0	0	1	0	3	47					G	742321	C	G	742321	2	3	373	1	0	0	0	0	0	0	0	1	7976	813	29	4		4	KANK1	9	742321	Silent	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		742321	140471110	19	34296											
DAB2IP	153090	broad.mit.edu	37	chr9	124530868	124530868	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgggccgcgagctctccAgcctgcactcactgctctgg	11	17	3	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:124530868A>G	ENST00000408936.3	+	10	2037	c.1855A>G	c.(1855-1857)Agc>Ggc	p.S619G	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	619					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						CGAGCTCTCCAGCCTGCACTC	0.637																																						ENST00000408936.3																			0				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						c.(1855-1857)Agc>Ggc		DAB2 interacting protein							55	57	56					9																	124530868		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124530868A>G	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.1855A>G	9.37:g.124530868A>G	ENSP00000386183:p.Ser619Gly					DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G	p.S619G			Q5VWQ8	DAB2P_HUMAN			10	2037	+			619					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1855A>G		.	.	.	.	.	.	.	.	.	.	A	17.50	3.405052	0.62288	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	4.82	4.82	0.62117	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.099820	0.64402	D	0.000002	T	0.17534	0.0421	L	0.36672	1.1	0.39356	D	0.965836	B;B	0.26002	0.139;0.125	B;B	0.31614	0.056;0.133	T	0.06445	-1.0826	10	0.72032	D	0.01	.	13.8827	0.63691	1.0:0.0:0.0:0.0	.	619;591	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	G	591;619;528;495	ENSP00000259371:S591G;ENSP00000386183:S619G;ENSP00000362887:S528G;ENSP00000310827:S495G	ENSP00000259371:S591G	S	+	1	0	DAB2IP	123570689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.118000	0.64673	1.938000	0.56188	0.455000	0.32223	AGC		0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		25	38	0	0	0	1	0	25	38					G	124530868	A	G	124530868	3	3	373	1	0	0	0	0	1	0	0	0	4219	188	7	3	1809	3	DAB2IP	9	124530868	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08	123788547	124530868	16682563	20	34297											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454053	37454053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagaatccaaacaaaaGgactatgaagaaaattcttg	6	8	2	3			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr10:37454053G>A	ENST00000602533.1	+	18	1965	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ANKRD30A_ENST00000374660.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	678					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1864-1866)aaG>aaA		ankyrin repeat domain 30A							129	124	126					10																	37454053		1811	4062	5873	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454053G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1866G>A	10.37:g.37454053G>A						ANKRD30A_ENST00000602533.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K	p.K622K			Q9BXX3	AN30A_HUMAN			18	1965	+			678					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1866G>A																																																																																					0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		13	14	0	0	0	1	0	13	14					A	37454053	G	A	37454053	2	1	373	1	0	0	0	0	0	0	0	1	658	991	35	2		2	ANKRD30A	10	37454053	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		37454053	98080694	21	34298											
MGAT4C	25834	broad.mit.edu	37	chr12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcaaaatatcattttGccgatcttctgttccagtat	6	8	3	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:86373300G>A	ENST00000604798.1	-	8	2408	c.1204C>T	c.(1204-1206)Caa>Taa	p.Q402*	MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	402					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATCATTTTGCCGATCTTCT	0.343																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1204-1206)Caa>Taa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							72	71	71					12																	86373300		2203	4300	6503	SO:0001587	stop_gained	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373300G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1204C>T	12.37:g.86373300G>A	ENSP00000474896:p.Gln402*					MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*	p.Q402*			Q9UBM8	MGT4C_HUMAN			8	2408	-			402					B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	ENST00000604798.1	37	c.1204C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028622	0.35797	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-3.1508	19.9607	0.97248	0.0:0.0:1.0:0.0	.	.	.	.	X	402;431;402;402;402;402	.	ENSP00000331664:Q402X	Q	-	1	0	MGAT4C	84897431	1.000000	0.71417	0.980000	0.43619	0.121000	0.20230	7.858000	0.86971	2.713000	0.92767	0.585000	0.79938	CAA		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		16	34	0	0	0	1	0	16	34					A	86373300	G	A	86373300	4	1	373	1	0	0	0	0	0	1	0	0	9547	1328	46	2	236	2	MGAT4C	12	86373300	Nonsense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		86373300	47478595	22	34299											
EEA1	8411	broad.mit.edu	37	chr12	93181751	93181751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagttgttttgtaatactgaTattttctctttctctgctgc	6	7	2	1	rs371386535		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93181751T>C	ENST00000322349.8	-	22	3306	c.3042A>G	c.(3040-3042)atA>atG	p.I1014M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1014	Gln/Glu/Lys-rich.				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						GTAATACTGATATTTTCTCTT	0.378																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3040-3042)atA>atG		early endosome antigen 1							74	70	71					12																	93181751		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93181751T>C	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.3042A>G	12.37:g.93181751T>C	ENSP00000317955:p.Ile1014Met						p.I1014M	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			22	3306	-			1014			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3042A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	5.843	0.339819	0.11069	.	.	ENSG00000102189	ENST00000322349	T	0.65364	-0.15	6.06	-8.56	0.00904	.	0.679557	0.13250	N	0.402181	T	0.30665	0.0772	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12528	-1.0544	10	0.23302	T	0.38	.	4.8935	0.13738	0.1783:0.4449:0.0911:0.2857	.	1014	Q15075	EEA1_HUMAN	M	1014	ENSP00000317955:I1014M	ENSP00000317955:I1014M	I	-	3	3	EEA1	91705882	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-2.454000	0.01004	-1.082000	0.03101	-0.280000	0.10049	ATA		0.378	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		3	33	0	0	0	1	0	3	33					C	93181751	T	C	93181751	3	2	373	1	0	0	0	0	1	0	0	0	4921	1396	49	3	1225	3	EEA1	12	93181751	Missense_Mutation	SNP	T	TCGA-P5-A736-01A-11D-A32B-08	6808451	93181751	40670144	23	34300											
NUDT4	11163	broad.mit.edu	37	chr12	93793075	93793076	+	Frame_Shift_Del	DEL	AC	AC	-													ccccagccaatggaaattctAcagtcccttcccttccggat							TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93793075_93793076delAC	ENST00000415493.2	+	5	890_891	c.463_464delAC	c.(463-465)acafs	p.T155fs	NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000337179.5_Frame_Shift_Del_p.T156fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	155					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						TGGAAATTCTACAGTCCCTTCC	0.46																																						ENST00000337179.5																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(466-468)afs		nudix (nucleoside diphosphate linked moiety X)-type motif 4																																				SO:0001589	frameshift_variant	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93793075_93793076delAC	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"Nudix motif containing"	8051	protein-coding gene	gene with protein product	"diphosphoinositol polyphosphate phosphohydrolase type 2"	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.463_464delAC	12.37:g.93793075_93793076delAC	ENSP00000406612:p.Thr155fs					NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000415493.2_Frame_Shift_Del_p.T155fs|NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs	p.T156fs	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN			5	906_907	+			155					B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Frame_Shift_Del	DEL	ENST00000415493.2	37	c.466_467delAC	CCDS44952.1																																																																																				0.46	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		16	151						16	151	---	---	---	---	-	93793076	AC	-	93793075	7	5	373	1	0	1	0	1	0	0	0	0	10741	391	14	0	484	0	NUDT4	12	93793075	Frame_Shift_Del	DEL	AC	TCGA-P5-A736-01A-11D-A32B-08	611324	93793075	40058820	24	34301											
TRIM13	10206	broad.mit.edu	37	chr13	50586723	50586723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttatgcaagcatatgAcccagagatcaacaaactca	7	10	2	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:50586723A>C	ENST00000378182.3	+	2	1385	c.647A>C	c.(646-648)gAc>gCc	p.D216A	TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|KCNRG_ENST00000312942.1_5'Flank|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	216					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGCATATGACCCAGAGATC	0.398																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(646-648)gAc>gCc		tripartite motif containing 13							73	66	68					13																	50586723		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586723A>C	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.647A>C	13.37:g.50586723A>C	ENSP00000367424:p.Asp216Ala					TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A	p.D216A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	1385	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	216					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.647A>C	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298815	0.60195	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25749	2.33;1.78;1.78;2.32;1.78;2.32	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.11203	-1.0597	9	.	.	.	-6.5507	15.7868	0.78310	1.0:0.0:0.0:0.0	.	216;219	O60858;O60858-3	TRI13_HUMAN;.	A	216;216;216;219;216;219	ENSP00000367425:D216A;ENSP00000412943:D216A;ENSP00000367424:D216A;ENSP00000348299:D219A;ENSP00000399206:D216A;ENSP00000298772:D219A	.	D	+	2	0	TRIM13	49484724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	2.119000	0.64992	0.533000	0.62120	GAC		0.398	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		5	28	0	0	0	1	0	5	28					C	50586723	A	C	50586723	3	2	373	1	0	0	0	0	1	0	0	0	16485	275	10	5	662	5	TRIM13	13	50586723	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08		50586723	64583155	25	34302											
ABCC4	10257	broad.mit.edu	37	chr13	95686882	95686882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgctgtttcagtgagggCagcggcttctgccttgccca	12	11	2	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:95686882C>T	ENST00000376887.4	-	30	3961	c.3847G>A	c.(3847-3849)Gcc>Acc	p.A1283T	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1283					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)	TCAGTGAGGGCAGCGGCTTCT	0.473																																						ENST00000376887.4																			0				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						c.(3847-3849)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						88	80	83					13																	95686882		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95686882C>T	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.3847G>A	13.37:g.95686882C>T	ENSP00000366084:p.Ala1283Thr					ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	p.A1283T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			30	3961	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1283					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3847G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082148	0.36758	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90620	-2.7;-2.68	6.17	5.32	0.75619	.	0.222110	0.46145	D	0.000316	D	0.85622	0.5739	L	0.38649	1.16	0.80722	D	1	B;P;B	0.35077	0.248;0.483;0.44	B;B;B	0.38985	0.287;0.084;0.169	T	0.80520	-0.1346	10	0.19590	T	0.45	.	10.795	0.46455	0.1573:0.7727:0.0:0.07	.	1236;873;1283	O15439-2;O75555;O15439	.;.;MRP4_HUMAN	T	1236;1283	ENSP00000388657:A1236T;ENSP00000366084:A1283T	ENSP00000366084:A1283T	A	-	1	0	ABCC4	94484883	0.813000	0.29090	0.998000	0.56505	0.973000	0.67179	1.046000	0.30354	2.941000	0.99782	0.655000	0.94253	GCC		0.473	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		5	49	0	0	0	1	0	5	49					T	95686882	C	T	95686882	3	4	373	1	0	0	0	0	1	0	0	0	55	710	25	2	138	2	ABCC4	13	95686882	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	45100159	95686882	19482996	26	34303											
THSD4	79875	broad.mit.edu	37	chr15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagaagtcgttctggaCgctccatcatcaatgggaac	10	12	3	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000357769.4_Missense_Mutation_p.R100C|THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R460C(2)		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						TCGTTCTGGACGCTCCATCAT	0.507																																						ENST00000355327.3																			2	Substitution - Missense(2)	p.R460C(2)	lung(2)	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						c.(1378-1380)Cgc>Tgc		thrombospondin, type I, domain containing 4							125	117	119					15																	72020908		1915	4114	6029	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72020908C>T	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.1378C>T	15.37:g.72020908C>T	ENSP00000347484:p.Arg460Cys					THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C	p.R460C			Q6ZMP0	THSD4_HUMAN			9	1512	+			460					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1378C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938037	0.73557	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.53640	0.61;0.61;0.61	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	1.051040	0.07476	N	0.903020	T	0.69214	0.3086	M	0.69523	2.12	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.973;0.992;0.981	T	0.60224	-0.7305	10	0.72032	D	0.01	.	11.2941	0.49267	0.1821:0.8179:0.0:0.0	.	100;100;460;460	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	C	460;460;100	ENSP00000347484:R460C;ENSP00000261862:R460C;ENSP00000350413:R100C	ENSP00000261862:R460C	R	+	1	0	THSD4	69807962	0.973000	0.33851	1.000000	0.80357	0.885000	0.51271	2.389000	0.44407	2.404000	0.81709	0.462000	0.41574	CGC		0.507	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		19	50	0	0	0	1	0	19	50					T	72020908	C	T	72020908	3	4	373	1	0	0	0	0	1	0	0	0	15875	536	19	1	1408	1	THSD4	15	72020908	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		72020908	30510484	27	34304											
CACNA1H	8912	broad.mit.edu	37	chr16	1262079	1262079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccggcagcaccaggaggCggaggaggcgcggcggcgag	22	11	0	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr16:1262079C>T	ENST00000348261.5	+	25	4948	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1567					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)	CACCAGGAGGCGGAGGAGGCG	0.657																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4699-4701)gCg>gTg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						118	123	121					16																	1262079		2143	4239	6382	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262079C>T	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.4700C>T	16.37:g.1262079C>T	ENSP00000334198:p.Ala1567Val					CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			25	4948	+		Hepatocellular(780;0.00369)	1567					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4700C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345911	0.61073	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96651	-4.08;-4.02	4.13	4.13	0.48395	.	0.206590	0.40469	N	0.001083	D	0.92996	0.7771	N	0.14661	0.345	0.37608	D	0.920811	D;P;B;P;B	0.67145	0.996;0.792;0.449;0.744;0.274	P;B;B;B;B	0.50082	0.63;0.126;0.029;0.119;0.177	D	0.92697	0.6171	10	0.23302	T	0.38	.	15.9029	0.79397	0.0:1.0:0.0:0.0	.	308;308;308;1567;1567	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	V	1567	ENSP00000334198:A1567V;ENSP00000351401:A1567V	ENSP00000334198:A1567V	A	+	2	0	CACNA1H	1202080	1.000000	0.71417	0.941000	0.38009	0.961000	0.63080	5.702000	0.68332	2.285000	0.76669	0.467000	0.42956	GCG		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		21	59	0	0	0	1	0	21	59					T	1262079	C	T	1262079	3	4	373	1	0	0	0	0	1	0	0	0	2545	768	27	1	4794	1	CACNA1H	16	1262079	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		1262079	89092674	28	34305											
TP53	7157	broad.mit.edu	37	chr17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cacgcaaatttccttccactCggataagatgctgaggaggg	11	10	0	2	rs483352697		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:7578262C>G	ENST00000269305.4	-	6	776	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000420246.2_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)	TCCTTCCACTCGGATAAGATG	0.547		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		51	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Deletion - Frameshift(1)|Complex - frameshift(1)	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)	lung(11)|breast(9)|biliary_tract(5)|skin(5)|pancreas(5)|bone(4)|central_nervous_system(3)|stomach(2)|large_intestine(2)|urinary_tract(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|thymus(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	GRCh37	CM984587	TP53	M		c.(586-588)cGa>cCa	Other conserved DNA damage response genes	tumor protein p53							104	93	96					17																	7578262		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578262C>G	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.587G>C	17.37:g.7578262C>G	ENSP00000269305:p.Arg196Pro	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P	p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	719	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.587G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030593	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.43	0.53597	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	0.99871	0.9939	M	0.91872	3.25	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	1.0;0.999;0.995;1.0;0.999;0.999;1.0	D	0.96402	0.9297	10	0.87932	D	0	-19.9531	13.7077	0.62651	0.1553:0.8447:0.0:0.0	.	157;196;196;103;196;196;196	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	196;196;196;196;196;196;185;103;64;103;64	ENSP00000410739:R196P;ENSP00000352610:R196P;ENSP00000269305:R196P;ENSP00000398846:R196P;ENSP00000391127:R196P;ENSP00000391478:R196P;ENSP00000425104:R64P;ENSP00000423862:R103P	ENSP00000269305:R196P	R	-	2	0	TP53	7518987	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	7.775000	0.85489	1.410000	0.46936	0.655000	0.94253	CGA		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	11	0	0	0	1	0	17	11					G	7578262	C	G	7578262	3	3	373	1	0	0	0	0	1	0	0	0	16378	884	31	4	707	4	TP53	17	7578262	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		7578262	73616948	29	34306											
C17orf71	55181	broad.mit.edu	37	chr17	57290560	57290560	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctttattccaggaacAaattatcttatgccttggga	9	8	1	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:57290560A>C	ENST00000543872.2	+	4	2640	c.2376A>C	c.(2374-2376)acA>acC	p.T792T	SMG8_ENST00000300917.5_Silent_p.T792T|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	792					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						TTCCAGGAACAAATTATCTTA	0.428																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2374-2376)acA>acC		SMG8 nonsense mediated mRNA decay factor							111	114	113					17																	57290560		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290560A>C	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.2376A>C	17.37:g.57290560A>C						SMG8_ENST00000300917.5_Silent_p.T792T|CTD-2510F5.6_ENST00000577660.1_Intron	p.T792T			Q8ND04	SMG8_HUMAN			4	2640	+			792					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.2376A>C	CCDS11615.1																																																																																				0.428	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		5	106	0	0	0	1	0	5	106					C	57290560	A	C	57290560	2	2	373	1	0	0	0	0	0	0	0	1	1878	117	5	5		5	C17orf71	17	57290560	Silent	SNP	A	TCGA-P5-A736-01A-11D-A32B-08	49712298	57290560	23904650	30	34307											
HELZ	9931	broad.mit.edu	37	chr17	65074523	65074523	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctggcataggacatggcggGcttgccccccgcagagctct	14	14	1	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:65074523G>C	ENST00000358691.5	-	33	5840	c.5674C>G	c.(5674-5676)Ccc>Gcc	p.P1892A	HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1892						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)					GACATGGCGGGCTTGCCCCCC	0.627																																						ENST00000358691.5																			0				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						c.(5674-5676)Ccc>Gcc		helicase with zinc finger							63	68	66					17																	65074523		1899	4106	6005	SO:0001583	missense	9931							g.chr17:65074523G>C	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.5674C>G	17.37:g.65074523G>C	ENSP00000351524:p.Pro1892Ala					HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	p.P1892A	NM_014877.3	NP_055692.2					33	5840	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5674C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767257	0.31320	.	.	ENSG00000198265	ENST00000358691	D	0.95821	-3.82	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.97193	0.9859	10	0.87932	D	0	-12.7088	19.324	0.94254	0.0:0.0:1.0:0.0	.	1893;1892	B7ZLW2;P42694	.;HELZ_HUMAN	A	1892	ENSP00000351524:P1892A	ENSP00000351524:P1892A	P	-	1	0	HELZ	62504985	1.000000	0.71417	0.992000	0.48379	0.830000	0.47004	8.972000	0.93424	2.544000	0.85801	0.655000	0.94253	CCC		0.627	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		4	115	0	0	0	1	0	4	115					C	65074523	G	C	65074523	3	2	373	1	0	0	0	0	1	0	0	0	7049	1203	42	4	158	4	HELZ	17	65074523	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	7783963	65074523	16120687	31	34308											
SERPINB12	89777	broad.mit.edu	37	chr18	61228381	61228381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgttgatttccaaaaaAaccctgaaaaatccagacaa	5	8	0	3	rs372067940		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:61228381A>C	ENST00000269491.1	+	4	448	c.448A>C	c.(448-450)Aac>Cac	p.N150H	SERPINB12_ENST00000382768.1_Missense_Mutation_p.N170H	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	150					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTCCAAAAAAACCCTGAAAA	0.368																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(508-510)Aac>Cac		serpin peptidase inhibitor, clade B (ovalbumin), member 12							88	86	86					18																	61228381		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61228381A>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.448A>C	18.37:g.61228381A>C	ENSP00000269491:p.Asn150His					SERPINB12_ENST00000269491.1_Missense_Mutation_p.N150H	p.N170H			Q96P63	SPB12_HUMAN			4	508	+			150					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.508A>C	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	A	8.880	0.951497	0.18431	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84070	-1.8;-1.8	5.59	0.655	0.17839	Serpin domain (3);	0.688458	0.14267	N	0.330440	T	0.77110	0.4082	L	0.33093	0.98	0.09310	N	1	P;P	0.46142	0.873;0.794	P;P	0.49140	0.482;0.601	T	0.66689	-0.5860	10	0.62326	D	0.03	.	5.7264	0.18015	0.342:0.1272:0.5308:0.0	.	170;150	Q3SYB4;Q96P63	.;SPB12_HUMAN	H	150;170	ENSP00000269491:N150H;ENSP00000372218:N170H	ENSP00000269491:N150H	N	+	1	0	SERPINB12	59379361	0.000000	0.05858	0.058000	0.19502	0.001000	0.01503	0.580000	0.23803	0.108000	0.17862	-1.148000	0.01847	AAC		0.368	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		8	86	0	0	0	1	0	8	86					C	61228381	A	C	61228381	3	2	373	1	0	0	0	0	1	0	0	0	14099	14	1	5	462	5	SERPINB12	18	61228381	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08		61228381	16848867	32	34309											
RTTN	25914	broad.mit.edu	37	chr18	67872445	67872446	+	Frame_Shift_Del	DEL	AA	AA	-													aaccattccagcaaatgaagAaaaagttgcctctcctgaat							TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:67872445_67872446delAA	ENST00000255674.6	-	2	423_424	c.137_138delTT	c.(136-138)tttfs	p.F46fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	46					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)				GCAAATGAAGAAAAAGTTGCCT	0.455																																						ENST00000255674.6																			0				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						c.(136-138)tfs		rotatin																																				SO:0001589	frameshift_variant	25914						binding	g.chr18:67872445_67872446delAA	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.137_138delTT	18.37:g.67872447_67872448delAA	ENSP00000255674:p.Phe46fs					RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			2	423_424	-		Esophageal squamous(42;0.129)	46					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	ENST00000255674.6	37	c.137_138delTT	CCDS42443.1																																																																																				0.455	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		11	77						11	77	---	---	---	---	-	67872446	AA	-	67872445	7	5	373	1	0	1	0	1	0	0	0	0	13737	243	9	0	6734	0	RTTN	18	67872445	Frame_Shift_Del	DEL	AA	TCGA-P5-A736-01A-11D-A32B-08	6644064	67872445	10204803	33	34310											
KIAA1543	57662	broad.mit.edu	37	chr19	7677012	7677012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaaccgccagccccatccGaggggtccccgaaggcggtg	14	16	0	0	rs376504713		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7677012G>A	ENST00000160298.4	+	11	1734	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E572K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	545	Pro-rich.				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)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCCCCATCCGAGGGGTCCCC	0.617																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1714-1716)Gag>Aag		calmodulin regulated spectrin-associated protein family, member 3		G	LYS/GLU,LYS/GLU	1,3859		0,1,1929	25	30	28		1714,1633	4.1	0.9	19		28	0,8230		0,0,4115	no	missense,missense	CAMSAP3	NM_001080429.2,NM_020902.1	56,56	0,1,6044	AA,AG,GG		0.0,0.0259,0.0083	benign,benign	572/1277,545/1250	7677012	1,12089	1930	4115	6045	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677012G>A	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.1633G>A	19.37:g.7677012G>A	ENSP00000160298:p.Glu545Lys					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E545K	p.E572K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	1815	+			545					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1714G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	1.167	-0.641991	0.03531	2.59E-4	0.0	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.14391	2.52;2.51	4.14	4.14	0.48551	.	2.430320	0.01889	N	0.038424	T	0.13500	0.0327	L	0.46157	1.445	0.33678	D	0.611756	B;P	0.41313	0.041;0.745	B;B	0.31016	0.005;0.123	T	0.36187	-0.9758	10	0.16896	T	0.51	-11.4892	11.288	0.49232	0.0:0.1859:0.8141:0.0	.	545;572	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	572;545	ENSP00000416797:E572K;ENSP00000160298:E545K	ENSP00000160298:E545K	E	+	1	0	KIAA1543	7583012	0.571000	0.26659	0.865000	0.33974	0.151000	0.21798	1.373000	0.34272	1.839000	0.53478	0.544000	0.68410	GAG		0.617	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		8	22	0	0	0	1	0	8	22					A	7677012	G	A	7677012	3	1	373	1	0	0	0	0	1	0	0	0	8243	1059	37	1	1764	1	KIAA1543	19	7677012	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		7677012	51451971	34	34311											
CD209	30835	broad.mit.edu	37	chr19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattgccactaaattccgCgcagtcttcctccccaacgt	6	17	1	0	rs200282091		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000204801.8_Missense_Mutation_p.A313T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0					ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1069-1071)Gcg>Acg		CD209 molecule		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	251	229	236		661,937,793,997,1051,586,1069	3.5	0	19		236	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	221/269,313/361,265/313,333/381,351/399,196/244,357/405	7808071	1,13005	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7808071C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1069G>A	19.37:g.7808071C>T	ENSP00000315477:p.Ala357Thr					CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000204801.8_Missense_Mutation_p.A313T	p.A357T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			7	1091	-			357			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.1069G>A	CCDS12186.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.08	2.427520	0.43122	0.0	1.16E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	3.45	3.45	0.39498	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.40815	0.1132	M	0.69463	2.115	0.09310	N	1	B;D;D;D;P;B;D;D;D;P;D	0.69078	0.438;0.997;0.985;0.996;0.93;0.379;0.975;0.957;0.986;0.903;0.96	B;D;B;D;B;B;B;B;P;B;B	0.65573	0.054;0.936;0.351;0.933;0.182;0.024;0.432;0.15;0.556;0.064;0.239	T	0.08391	-1.0724	9	0.66056	D	0.02	.	10.7263	0.46070	0.0:1.0:0.0:0.0	.	357;121;351;313;221;333;265;357;287;333;357	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	357;351;333;313;265;221;121	ENSP00000315477:A357T;ENSP00000346373:A351T;ENSP00000315407:A333T;ENSP00000204801:A313T;ENSP00000301357:A221T;ENSP00000377716:A121T	ENSP00000204801:A313T	A	-	1	0	CD209	7714071	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	2.594000	0.46189	2.221000	0.72209	0.455000	0.32223	GCG		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	208	0	0	0	1	0	5	208					T	7808071	C	T	7808071	3	4	373	1	0	0	0	0	1	0	0	0	2984	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	131059	7808071	51320912	35	34312											
ZNF442	79973	broad.mit.edu	37	chr19	12460800	12460800	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagtgtgaatcctttcatgGacttttaagttaccaaaatg	7	8	1	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:12460800G>A	ENST00000242804.4	-	6	2181	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Silent_p.V464V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	533					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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCTTTCATGGACTTTTAAGT	0.388																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1597-1599)gtC>gtT		zinc finger protein 442							90	89	90					19																	12460800		2203	4300	6503	SO:0001819	synonymous_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12460800G>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1599C>T	19.37:g.12460800G>A						ZNF442_ENST00000438182.1_Silent_p.V464V	p.V533V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	2181	-			533					B4DJ48	Silent	SNP	ENST00000242804.4	37	c.1599C>T	CCDS12271.1																																																																																				0.388	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		23	38	0	0	0	1	0	23	38					A	12460800	G	A	12460800	2	1	373	1	0	0	0	0	0	0	0	1	17912	1161	41	2		2	ZNF442	19	12460800	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	4652729	12460800	46668183	36	34313											
FAM129C	199786	broad.mit.edu	37	chr19	17641666	17641666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctgggccctcaggagcCgaccggaagccagttgctac	14	13	1	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:17641666C>T	ENST00000335393.4	+	3	389	c.251C>T	c.(250-252)cCg>cTg	p.P84L	FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	84										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCTCAGGAGCCGACCGGAAGC	0.637																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(250-252)cCg>cTg		family with sequence similarity 129, member C							59	57	58					19																	17641666		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17641666C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.251C>T	19.37:g.17641666C>T	ENSP00000335040:p.Pro84Leu					FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000449408.2_Intron	p.P84L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			3	389	+			84					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.251C>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675533	0.47781	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971	T;T;T;T	0.23754	2.18;2.2;1.89;1.89	5.15	2.89	0.33648	.	0.464154	0.18014	N	0.154441	T	0.45438	0.1342	M	0.68317	2.08	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.37842	-0.9688	10	0.59425	D	0.04	-32.4105	9.4628	0.38796	0.4723:0.5277:0.0:0.0	.	84;84	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	L	84	ENSP00000335040:P84L;ENSP00000333447:P84L;ENSP00000341067:P84L;ENSP00000300971:P84L	ENSP00000300971:P84L	P	+	2	0	FAM129C	17502666	0.397000	0.25270	0.776000	0.31678	0.263000	0.26337	0.891000	0.28309	1.136000	0.42199	0.436000	0.28706	CCG		0.637	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		6	38	0	0	0	1	0	6	38					T	17641666	C	T	17641666	3	4	373	1	0	0	0	0	1	0	0	0	5438	652	23	1	261	1	FAM129C	19	17641666	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	5180866	17641666	41487317	37	34314											
SNRNP70	6625	broad.mit.edu	37	chr19	49611507	49611507	+	Frame_Shift_Del	DEL	G	G	-													ccgggatcgtgaccgtgaccGtgaccgcgagcacaaacggg							TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:49611507delG	ENST00000598441.1	+	10	1345	c.1121delG	c.(1120-1122)cgtfs	p.R374fs	SNRNP70_ENST00000221448.5_Frame_Shift_Del_p.R365fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	374	Arg/Asp/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						gaccgtgaccgtgaccgcgag	0.741																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(1093-1095)ctfs		small nuclear ribonucleoprotein 70kDa (U1)							7	10	9					19																	49611507		2131	4180	6311	SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611507delG		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.1121delG	19.37:g.49611507delG	ENSP00000472998:p.Arg374fs					SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.R374fs	p.R365fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			10	1290	+			374			Arg/Asp/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Del	DEL	ENST00000598441.1	37	c.1094delG	CCDS12756.1																																																																																				0.741	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		2	4						2	4	---	---	---	---	-	49611507	G	-	49611507	7	5	373	1	0	1	0	1	0	0	0	0	14858	1145	40	0	1155	0	SNRNP70	19	49611507	Frame_Shift_Del	DEL	G	TCGA-P5-A736-01A-11D-A32B-08	31969841	49611507	9517476	38	34315											
NLRP8	126205	broad.mit.edu	37	chr19	56465952	56465954	+	In_Frame_Del	DEL	CTT	CTT	-													tggcctggaaaccagagggaCttcttctaccaaggtgtaca							TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:56465952_56465954delCTT	ENST00000291971.3	+	3	599_601	c.528_530delCTT	c.(526-531)gacttc>gac	p.F178del	NLRP8_ENST00000590542.1_In_Frame_Del_p.F178del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	178					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.F178delF(1)		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)		ACCAGAGGGACTTCTTCTACCAA	0.483																																						ENST00000291971.3																			1	Deletion - In frame(1)	p.F178delF(1)	large_intestine(1)	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						c.(526-531)gac>ga		NLR family, pyrin domain containing 8																																				SO:0001651	inframe_deletion	126205					cytoplasm	ATP binding	g.chr19:56465952_56465954delCTT	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.528_530delCTT	19.37:g.56465955_56465957delCTT	ENSP00000291971:p.Phe178del					NLRP8_ENST00000590542.1_In_Frame_Del_p.DF176del	p.DF176del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	599_601	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	176					Q7RTR4	In_Frame_Del	DEL	ENST00000291971.3	37	c.528_530delCTT	CCDS12937.1																																																																																				0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		12	89						12	89	---	---	---	---	-	56465954	CTT	-	56465952	7	5	373	1	0	1	0	1	0	0	0	0	10483	564	20	0	538	0	NLRP8	19	56465952	In_Frame_Del	DEL	CTT	TCGA-P5-A736-01A-11D-A32B-08	6854445	56465952	2663031	39	34316											
ITSN1	6453	broad.mit.edu	37	chr21	35153849	35153849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagttcagcagaacagtttgCacagtaggtgttttattttt	9	5	1	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr21:35153849C>T	ENST00000381318.3	+	15	1969	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	561	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAACAGTTTGCACAGTAGGTG	0.408																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1681-1683)Cac>Tac		intersectin 1 (SH3 domain protein)							90	89	89					21																	35153849		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35153849C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1681C>T	21.37:g.35153849C>T	ENSP00000370719:p.His561Tyr					ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y	p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			15	1969	+			561			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1681C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661389	0.88154	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.30714	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;1.52;2.59;2.59;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	L	0.34521	1.04	0.80722	D	1	D;D;D;P;D;D;P;P;D;D	0.76494	0.999;0.997;0.963;0.908;0.999;0.993;0.947;0.947;0.998;0.997	P;P;P;P;D;P;P;P;D;P	0.67725	0.904;0.834;0.715;0.589;0.953;0.866;0.521;0.696;0.947;0.834	T	0.30765	-0.9967	10	0.48119	T	0.1	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	524;524;524;561;561;561;561;561;561;524	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	524;561;561;561;561;561;561;561;561;561;561;561;561;561	ENSP00000382290:H524Y;ENSP00000370719:H561Y;ENSP00000370691:H561Y;ENSP00000370685:H561Y;ENSP00000382301:H561Y;ENSP00000382289:H561Y;ENSP00000382292:H561Y;ENSP00000382286:H561Y;ENSP00000382275:H561Y;ENSP00000387377:H561Y;ENSP00000382265:H561Y;ENSP00000369294:H561Y	ENSP00000369294:H561Y	H	+	1	0	ITSN1	34075719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.549000	0.82163	2.638000	0.89438	0.557000	0.71058	CAC		0.408	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		4	71	0	0	0	1	0	4	71					T	35153849	C	T	35153849	3	4	373	1	0	0	0	0	1	0	0	0	7926	710	25	2	1735	2	ITSN1	21	35153849	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		35153849	12976046	40	34317											
MTMR8	55613	broad.mit.edu	37	chrX	63579299	63579299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatacccatgtttctttccGggctgcacctgaagcctcca	7	15	1	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:63579299G>A	ENST00000374852.3	-	2	200	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTCTTTCCGGGCTGCACCT	0.408																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(133-135)Cgg>Tgg		myotubularin related protein 8							105	95	99					X																	63579299		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63579299G>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.133C>T	X.37:g.63579299G>A	ENSP00000363985:p.Arg45Trp					MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			2	200	-			45					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.133C>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674513	0.47781	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.82711	-1.64;-1.64	3.56	0.665	0.17896	.	0.302135	0.19440	U	0.114201	D	0.88847	0.6548	M	0.87180	2.865	0.27834	N	0.941349	B;D	0.76494	0.006;0.999	B;D	0.68765	0.002;0.96	T	0.80296	-0.1442	10	0.87932	D	0	.	4.2909	0.10878	0.2192:0.0:0.602:0.1789	.	45;45	B4DQL0;Q96EF0	.;MTMR8_HUMAN	W	45;45;44	ENSP00000394003:R45W;ENSP00000363985:R45W	ENSP00000247400:R44W	R	-	1	2	MTMR8	63496024	0.397000	0.25270	0.140000	0.22221	0.997000	0.91878	0.730000	0.26043	-0.220000	0.09988	0.513000	0.50165	CGG		0.408	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		9	37	0	0	0	1	0	9	37					A	63579299	G	A	63579299	3	1	373	1	0	0	0	0	1	0	0	0	9949	1115	39	1	2033	1	MTMR8	23	63579299	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		63579299	91691261	41	34318											
ATRX	546	broad.mit.edu	37	chrX	76778806	76778807	+	Frame_Shift_Del	DEL	AA	AA	-													cttcttcttctttgtggtccAaaagagaatcatgttcatgg							TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76778806_76778807delAA	ENST00000373344.5	-	31	6986_6987	c.6772_6773delTT	c.(6772-6774)ttgfs	p.L2258fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2258	Interaction with MECP2.				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)			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						TTTGTGGTCCAAAAGAGAATCA	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		0				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						c.(6772-6774)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778806_76778807delAA	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.6772_6773delTT	X.37:g.76778808_76778809delAA	ENSP00000362441:p.Leu2258fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs|ATRX_ENST00000480283.1_5'UTR	p.L2258fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	6986_6987	-			2258					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6772_6773delTT	CCDS14434.1																																																																																				0.386	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		11	152						11	152	---	---	---	---	-	76778807	AA	-	76778806	7	5	373	1	0	1	0	1	0	0	0	0	1208	131	5	0	725	0	ATRX	23	76778806	Frame_Shift_Del	DEL	AA	TCGA-P5-A736-01A-11D-A32B-08	13199507	76778806	78491754	42	34319											
ATRX	546	broad.mit.edu	37	chrX	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcagcccacttcttccttGactgtgcagtagtggaacca	8	13	2	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						CTTCTTCCTTGACTGTGCAGT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6280-6282)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						139	125	130					X																	76829760		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76829760G>C	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.6281C>G	X.37:g.76829760G>C	ENSP00000362441:p.Ser2094*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	p.S2094*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			28	6495	-			2094			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6281C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	-	49	15.142353	0.99824	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.45	5.45	0.79879	.	0.093852	0.45867	U	0.000331	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-4.7825	18.0086	0.89216	0.0:0.0:1.0:0.0	.	.	.	.	X	2094;2056	.	ENSP00000362441:S2094X	S	-	2	0	ATRX	76716416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.949000	0.93012	2.288000	0.76882	0.540000	0.68198	TCA		0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	102	0	0	0	1	0	16	102					C	76829760	G	C	76829760	4	2	373	1	0	0	0	0	0	1	0	0	1208	1294	45	4	1229	4	ATRX	23	76829760	Nonsense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	50954	76829760	78440800	43	34320											
AHDC1	27245	broad.mit.edu	37	chr1	27875316	27875316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaggccactgagaagccCccgcaaactgccgacagttc	11	14	0	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:27875316C>T	ENST00000247087.5	-	5	3907	c.3311G>A	c.(3310-3312)gGg>gAg	p.G1104E	AHDC1_ENST00000374011.2_Missense_Mutation_p.G1104E			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							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)		CTGAGAAGCCCCCGCAAACTG	0.637																																						ENST00000374011.2																			0				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						c.(3310-3312)gGg>gAg		AT hook, DNA binding motif, containing 1							34	39	37					1																	27875316		2200	4295	6495	SO:0001583	missense	27245						DNA binding	g.chr1:27875316C>T	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.3311G>A	1.37:g.27875316C>T	ENSP00000247087:p.Gly1104Glu					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.G1104E	p.G1104E	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		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)	6	4279	-		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)	1104					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.3311G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688101	0.48097	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.51325	0.71;0.71	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	T	0.50480	0.1618	N	0.24115	0.695	0.38682	D	0.952564	D	0.57571	0.98	P	0.54174	0.744	T	0.56347	-0.7994	10	0.72032	D	0.01	-12.9846	18.7978	0.92003	0.0:1.0:0.0:0.0	.	1104	Q5TGY3	AHDC1_HUMAN	E	1104	ENSP00000247087:G1104E;ENSP00000363123:G1104E	ENSP00000247087:G1104E	G	-	2	0	AHDC1	27747903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.685000	0.54678	2.735000	0.93741	0.655000	0.94253	GGG		0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	39	0	0	0	1	0	5	39					T	27875316	C	T	27875316	3	4	374	1	0	0	0	0	1	0	0	0	412	623	22	2	1504	2	AHDC1	1	27875316	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		27875316	221375305	1	34321											
KIAA0467	23334	broad.mit.edu	37	chr1	43904411	43904411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcgagttctatgtcggCgcctggatgaggccacgctg	15	11	1	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:43904411C>T	ENST00000562955.1	+	46	6379	c.6379C>T	c.(6379-6381)Cgc>Tgc	p.R2127C	SZT2_ENST00000372442.1_Missense_Mutation_p.R1285C|SZT2_ENST00000471177.1_3'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2184					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R1285C(2)|p.R2127C(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTATGTCGGCGCCTGGATGA	0.572																																						ENST00000562955.1																			3	Substitution - Missense(3)	p.R1285C(2)|p.R2127C(1)	endometrium(3)	NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6379-6381)Cgc>Tgc		seizure threshold 2 homolog (mouse)							103	89	94					1																	43904411		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43904411C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6379C>T	1.37:g.43904411C>T	ENSP00000457168:p.Arg2127Cys					SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Missense_Mutation_p.R1285C	p.R2127C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			46	6379	+			2184					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.6379C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972095	0.53614	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.54323	1.7	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.78086	-0.2341	9	0.87932	D	0	.	19.4643	0.94932	0.0:1.0:0.0:0.0	.	2127	Q5T011-5	.	C	1285	.	ENSP00000361519:R1285C	R	+	1	0	SZT2	43676998	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	4.410000	0.59774	2.705000	0.92388	0.655000	0.94253	CGC		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		16	4	0	0	0	1	0	16	4					T	43904411	C	T	43904411	3	4	374	1	0	0	0	0	1	0	0	0	8178	768	27	1	3971	1	KIAA0467	1	43904411	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	16029095	43904411	205346210	2	34322											
KPRP	448834	broad.mit.edu	37	chr1	152732999	152732999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagtcgctgtcctcgccGccccatttcaagctgctctc	7	17	2	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:152732999G>A	ENST00000606109.1	+	1	963	c.935G>A	c.(934-936)cGc>cAc	p.R312H	KPRP_ENST00000368773.1_Missense_Mutation_p.R312H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	312	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTCGCCGCCCCATTTCA	0.592																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(934-936)cGc>cAc		keratinocyte proline-rich protein							47	47	47					1																	152732999		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732999G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.935G>A	1.37:g.152732999G>A	ENSP00000475216:p.Arg312His					KPRP_ENST00000606109.1_Missense_Mutation_p.R312H	p.R312H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	993	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		312			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.935G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	4.524	0.097227	0.08681	.	.	ENSG00000203786	ENST00000368773	T	0.15834	2.39	5.3	0.0317	0.14172	.	1.822830	0.02592	N	0.100084	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37865	-0.9687	10	0.44086	T	0.13	-0.013	7.04	0.25015	0.3:0.1177:0.5823:0.0	.	312	Q5T749	KPRP_HUMAN	H	312	ENSP00000357762:R312H	ENSP00000357762:R312H	R	+	2	0	KPRP	150999623	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	-0.415000	0.07484	-1.598000	0.00824	CGC		0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		3	52	0	0	0	1	0	3	52					A	152732999	G	A	152732999	3	1	374	1	0	0	0	0	1	0	0	0	8436	1087	38	1	937	1	KPRP	1	152732999	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	108828588	152732999	96517622	3	34323											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	12	9	2	1	rs149372418	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299	234	256		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		5	39	0	0	0	1	0	5	39					A	168510202	G	A	168510202	2	1	374	1	0	0	0	0	0	0	0	1	17421	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	15777203	168510202	80740419	4	34324											
OR14I1	401994	broad.mit.edu	37	chr1	248844917	248844917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcttttgctcgactcTgtcctgaagggattctgagc	12	9	2	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:248844917T>C	ENST00000342623.3	-	1	712	c.689A>G	c.(688-690)cAg>cGg	p.Q230R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	230						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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGCTCGACTCTGTCCTGAAGG	0.493																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(688-690)cAg>cGg		olfactory receptor, family 14, subfamily I, member 1							86	86	86					1																	248844917		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844917T>C		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.689A>G	1.37:g.248844917T>C	ENSP00000339726:p.Gln230Arg						p.Q230R	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	712	-			230						Missense_Mutation	SNP	ENST00000342623.3	37	c.689A>G	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.764047	0.31228	.	.	ENSG00000189181	ENST00000342623	T	0.00198	8.57	3.49	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.311790	0.22605	N	0.057903	T	0.00178	0.0005	L	0.51853	1.615	0.09310	N	1	B	0.23806	0.091	B	0.33121	0.158	T	0.32161	-0.9917	10	0.44086	T	0.13	.	4.0111	0.09623	0.2117:0.0:0.2189:0.5694	.	230	A6ND48	O14I1_HUMAN	R	230	ENSP00000339726:Q230R	ENSP00000339726:Q230R	Q	-	2	0	OR14I1	246911540	0.000000	0.05858	0.002000	0.10522	0.271000	0.26615	0.004000	0.13106	0.379000	0.24794	0.443000	0.29094	CAG		0.493	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		5	63	0	0	0	1	0	5	63					C	248844917	T	C	248844917	3	2	374	1	0	0	0	0	1	0	0	0	10947	1580	55	3	250	3	OR14I1	1	248844917	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	80334715	248844917	405704	5	34325											
DHRS9	10170	broad.mit.edu	37	chr2	169939889	169939889	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggcgtgctggctcccActgactggctgacactagag	12	14	0	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:169939889A>C	ENST00000327239.4	+	6	1868	c.364A>C	c.(364-366)Act>Cct	p.T122P	DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	122					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCTGGCTCCCACTGACTGGCT	0.473																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(364-366)Act>Cct		dehydrogenase/reductase (SDR family) member 9							124	109	114					2																	169939889		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939889A>C	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.364A>C	2.37:g.169939889A>C	ENSP00000316670:p.Thr122Pro					DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P	p.T122P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			6	1868	+			122					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.364A>C	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924002	0.73213	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.84	5.84	0.93424	NAD(P)-binding domain (1);	0.566312	0.21451	N	0.074322	T	0.81927	0.4926	L	0.41356	1.27	0.30796	N	0.740445	B;B	0.24533	0.105;0.033	B;B	0.27608	0.081;0.053	T	0.77656	-0.2506	10	0.30854	T	0.27	.	11.0363	0.47802	0.8613:0.0:0.0:0.1387	.	182;122	B7Z416;Q9BPW9	.;DHRS9_HUMAN	P	122;122;182;122;122;122	ENSP00000316670:T122P;ENSP00000350154:T122P;ENSP00000389241:T182P;ENSP00000388564:T122P;ENSP00000407167:T122P;ENSP00000407747:T122P	ENSP00000316670:T122P	T	+	1	0	DHRS9	169648135	0.065000	0.20965	0.940000	0.37924	0.848000	0.48234	2.594000	0.46189	2.243000	0.73865	0.482000	0.46254	ACT		0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		42	31	0	0	0	1	0	42	31					C	169939889	A	C	169939889	3	2	374	1	0	0	0	0	1	0	0	0	4498	159	6	5	370	5	DHRS9	2	169939889	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		169939889	73259484	6	34326											
FSIP2	401024	broad.mit.edu	37	chr2	186673362	186673362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaattttattatgatatAaaagatacaaatacagcctt	4	4	0	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:186673362A>G	ENST00000424728.1	+	17	19329	c.19329A>G	c.(19327-19329)atA>atG	p.I6443M	FSIP2_ENST00000343098.5_Missense_Mutation_p.I6532M			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6443										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTATGATATAAAAGATACAA	0.289																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19594-19596)atA>atG		fibrous sheath interacting protein 2							44	42	42					2																	186673362		1788	4055	5843	SO:0001583	missense	401024							g.chr2:186673362A>G	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.19329A>G	2.37:g.186673362A>G	ENSP00000401306:p.Ile6443Met					FSIP2_ENST00000424728.1_Missense_Mutation_p.I6443M	p.I6532M	NM_173651.2	NP_775922.2					17	19596	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.19596A>G		.	.	.	.	.	.	.	.	.	.	A	9.546	1.114602	0.20795	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.52057	0.68;0.69	5.22	-1.51	0.08664	.	0.593342	0.16006	N	0.234064	T	0.29491	0.0735	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.18178	-1.0345	8	0.41790	T	0.15	.	4.5034	0.11876	0.4335:0.3111:0.2555:0.0	.	.	.	.	M	6532;6443	ENSP00000344403:I6532M;ENSP00000401306:I6443M	ENSP00000344403:I6532M	I	+	3	3	FSIP2	186381607	0.993000	0.37304	0.010000	0.14722	0.302000	0.27658	0.568000	0.23623	-0.395000	0.07715	-1.208000	0.01637	ATA		0.289	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		23	18	0	0	0	1	0	23	18					G	186673362	A	G	186673362	3	3	374	1	0	0	0	0	1	0	0	0	6075	352	13	3	19662	3	FSIP2	2	186673362	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08	16733473	186673362	56526011	7	34327											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	16	0	0	0	1	0	23	16					T	209113112	C	T	209113112	3	4	374	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	22439750	209113112	34086261	8	34328											
SS18L2	51188	broad.mit.edu	37	chr3	42632448	42632448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggaagtcaatcaagagaCtatccagcgggtgagcatcc	13	10	2	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr3:42632448C>T	ENST00000447630.1	+	2	267	c.59C>T	c.(58-60)aCt>aTt	p.T20I	SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I|SEC22C_ENST00000417572.1_Intron			Q9UHA2	S18L2_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 2	20										prostate(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATCAAGAGACTATCCAGCGG	0.667																																						ENST00000447630.1																			0				prostate(1)	1						c.(58-60)aCt>aTt		synovial sarcoma translocation gene on chromosome 18-like 2							69	62	65					3																	42632448		2203	4300	6503	SO:0001583	missense	51188							g.chr3:42632448C>T	AF201950	CCDS2701.1	3p21	2008-07-18			ENSG00000008324	ENSG00000008324			15593	protein-coding gene	gene with protein product	"SYT homolog 2"	606473				11435705	Standard	NM_016305		Approved	KIAA-iso	uc003clk.1	Q9UHA2	OTTHUMG00000131794	ENST00000447630.1:c.59C>T	3.37:g.42632448C>T	ENSP00000401115:p.Thr20Ile					SEC22C_ENST00000417572.1_Intron|SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I	p.T20I			Q9UHA2	S18L2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	2	267	+			20					B2R5L1	Missense_Mutation	SNP	ENST00000447630.1	37	c.59C>T	CCDS2701.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514705	0.85389	.	.	ENSG00000008324	ENST00000447630;ENST00000011691	.	.	.	6.05	6.05	0.98169	.	0.137407	0.64402	D	0.000003	T	0.58235	0.2108	.	.	.	0.58432	D	0.999995	B	0.24186	0.099	B	0.27608	0.081	T	0.54788	-0.8241	8	0.54805	T	0.06	.	16.1303	0.81428	0.0:1.0:0.0:0.0	.	20	Q9UHA2	S18L2_HUMAN	I	20	.	ENSP00000011691:T20I	T	+	2	0	SS18L2	42607452	0.987000	0.35691	0.983000	0.44433	0.996000	0.88848	2.970000	0.49240	2.882000	0.98803	0.645000	0.84053	ACT		0.667	SS18L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254730.2	NM_016305		24	39	0	0	0	1	0	24	39					T	42632448	C	T	42632448	3	4	374	1	0	0	0	0	1	0	0	0	15176	565	20	2	61	2	SS18L2	3	42632448	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		42632448	155389982	9	34329											
ZNF721	170960	broad.mit.edu	37	chr4	436239	436239	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaaaggctttgccacactCttcacatttgtaactttgct	5	12	2	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:436239C>T	ENST00000338977.5	-	2	2029	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K			Q8TF20	ZN721_HUMAN	zinc finger protein 721	661					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTGCCACACTCTTCACATTTG	0.418																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1981-1983)Gag>Aag		zinc finger protein 721							140	147	145					4																	436239		2047	4214	6261	SO:0001583	missense	170960							g.chr4:436239C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1981G>A	4.37:g.436239C>T	ENSP00000340524:p.Glu661Lys					ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.E661K							2	2029	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1981G>A		.	.	.	.	.	.	.	.	.	.	C	12.70	2.016886	0.35606	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07327	3.2;3.2	0.701	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14313	0.0346	M	0.67625	2.065	0.09310	N	1	P;P;P	0.49862	0.602;0.929;0.913	B;P;P	0.53722	0.393;0.733;0.614	T	0.09773	-1.0659	9	0.51188	T	0.08	.	3.3576	0.07174	0.0:0.4946:0.2676:0.2378	.	661;673;673	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	K	661;673	ENSP00000340524:E661K;ENSP00000428878:E673K	ENSP00000340524:E661K	E	-	1	0	ZNF721	426239	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.002000	0.12924	-1.028000	0.03321	0.184000	0.17185	GAG		0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		4	100	0	0	0	1	0	4	100					T	436239	C	T	436239	3	4	374	1	0	0	0	0	1	0	0	0	18119	922	32	2	758	2	ZNF721	4	436239	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		436239	190718037	10	34330											
SLC34A2	10568	broad.mit.edu	37	chr4	25678090	25678090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctgccgctgtggatgCgctcgctgaagccctgggat	13	13	0	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:25678090C>T	ENST00000382051.3	+	13	1842	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C	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	598					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)	p.R598C(1)	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)				GCTGTGGATGCGCTCGCTGAA	0.632			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - Missense(1)	p.R598C(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1792-1794)Cgc>Tgc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							74	74	74					4																	25678090		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678090C>T	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.1792C>T	4.37:g.25678090C>T	ENSP00000371483:p.Arg598Cys					SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C	p.R598C	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1842	+		Breast(46;0.0503)	598					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1792C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778180	0.70107	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26810	1.71;1.71;1.71	5.18	5.18	0.71444	.	0.367222	0.33327	N	0.005036	T	0.48909	0.1526	M	0.71036	2.16	0.50632	D	0.999884	D;D	0.76494	0.999;0.997	P;P	0.59424	0.857;0.724	T	0.52079	-0.8623	10	0.87932	D	0	-7.0509	19.0623	0.93097	0.0:1.0:0.0:0.0	.	597;598	O95436-2;O95436	.;NPT2B_HUMAN	C	597;598;597	ENSP00000425501:R597C;ENSP00000371483:R598C;ENSP00000423021:R597C	ENSP00000371483:R598C	R	+	1	0	SLC34A2	25287188	1.000000	0.71417	0.994000	0.49952	0.178000	0.23041	7.776000	0.85560	2.584000	0.87258	0.561000	0.74099	CGC		0.632	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		4	69	0	0	0	1	0	4	69					T	25678090	C	T	25678090	3	4	374	1	0	0	0	0	1	0	0	0	14568	768	27	1	1838	1	SLC34A2	4	25678090	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	25241851	25678090	165476186	11	34331											
KIAA1211	57482	broad.mit.edu	37	chr4	57179385	57179385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccgttaaaccgtctcGgccaaaaaggcacttctctt	7	14	2	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:57179385G>A	ENST00000504228.1	+	5	482	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q			Q6ZU35	K1211_HUMAN	KIAA1211	126										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAACCGTCTCGGCCAAAAAGG	0.537																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(376-378)cGg>cAg		KIAA1211							180	186	184					4																	57179385		1996	4158	6154	SO:0001583	missense	57482							g.chr4:57179385G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.377G>A	4.37:g.57179385G>A	ENSP00000423366:p.Arg126Gln					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q	p.R126Q			Q6ZU35	K1211_HUMAN			5	482	+	Glioma(25;0.08)|all_neural(26;0.101)		126					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.377G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722233	0.89298	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.18810	2.19;2.19;2.21	5.37	5.37	0.77165	.	.	.	.	.	T	0.49847	0.1581	M	0.75264	2.295	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.52442	-0.8575	9	0.87932	D	0	-37.0122	19.1069	0.93300	0.0:0.0:1.0:0.0	.	119;119;126	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	126;126;119;36	ENSP00000264229:R126Q;ENSP00000423366:R126Q;ENSP00000444006:R119Q	ENSP00000264229:R126Q	R	+	2	0	KIAA1211	56874142	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.597000	0.82733	2.518000	0.84900	0.555000	0.69702	CGG		0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		10	100	0	0	0	1	0	10	100					A	57179385	G	A	57179385	3	1	374	1	0	0	0	0	1	0	0	0	8215	1116	39	1	391	1	KIAA1211	4	57179385	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	31501295	57179385	133974891	12	34332											
MAST4	375449	broad.mit.edu	37	chr5	66055567	66055567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatcccctccacccatgCcgtttcggaaatgcagcaac	6	15	0	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr5:66055567C>T	ENST00000403625.2	+	2	689	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000404260.3_Missense_Mutation_p.P132S|MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000406374.1_Missense_Mutation_p.P132S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	132						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)		TCCACCCATGCCGTTTCGGAA	0.488																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(394-396)Ccg>Tcg		microtubule associated serine/threonine kinase family member 4							108	98	101					5																	66055567		1977	4171	6148	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66055567C>T	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.394C>T	5.37:g.66055567C>T	ENSP00000385727:p.Pro132Ser					MAST4_ENST00000406374.1_Missense_Mutation_p.P132S|MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000403625.2_Missense_Mutation_p.P132S|MAST4_ENST00000478569.1_3'UTR	p.P132S			O15021	MAST4_HUMAN		Lung(70;0.011)	2	702	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	132					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.394C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081760	0.55861	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817	T;T;T;T;T	0.68479	-0.33;-0.33;1.33;1.34;0.88	5.31	5.31	0.75309	.	0.319658	0.27871	N	0.017515	T	0.58409	0.2120	N	0.24115	0.695	0.33112	D	0.540613	P;B	0.45715	0.865;0.119	P;B	0.46510	0.519;0.067	T	0.57768	-0.7754	10	0.08381	T	0.77	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	132;132	E7EX28;O15021-4	.;.	S	132;132;132;132;4	ENSP00000385048:P132S;ENSP00000385727:P132S;ENSP00000385088:P132S;ENSP00000384547:P132S;ENSP00000413573:P4S	ENSP00000385727:P132S	P	+	1	0	MAST4	66091323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.877000	0.39598	2.779000	0.95612	0.655000	0.94253	CCG		0.488	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			3	36	0	0	0	1	0	3	36					T	66055567	C	T	66055567	3	4	374	1	0	0	0	0	1	0	0	0	9327	739	26	2	400	2	MAST4	5	66055567	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		66055567	114859693	13	34333											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107808	26107808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgcttacccttggctcCtttagcctttctcccgctcc	6	17	1	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:26107808C>T	ENST00000338379.4	-	1	556	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	172					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						CCCTTGGCTCCTTTAGCCTTT	0.478																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(514-516)Gga>Aga		histone cluster 1, H1t							144	134	138					6																	26107808		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107808C>T	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.514G>A	6.37:g.26107808C>T	ENSP00000341214:p.Gly172Arg						p.G172R	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	556	-			172					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.514G>A	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	19.37	3.813860	0.70912	.	.	ENSG00000187475	ENST00000338379	T	0.04156	3.69	5.08	3.32	0.38043	.	0.240741	0.31301	U	0.007897	T	0.00784	0.0026	N	0.08118	0	0.09310	N	0.999999	B	0.30664	0.289	B	0.24848	0.056	T	0.48592	-0.9022	10	0.20519	T	0.43	-7.3272	10.4661	0.44609	0.0:0.8439:0.0:0.1561	.	172	P22492	H1T_HUMAN	R	172	ENSP00000341214:G172R	ENSP00000341214:G172R	G	-	1	0	HIST1H1T	26215787	0.007000	0.16637	0.046000	0.18839	0.424000	0.31475	1.942000	0.40243	0.751000	0.32900	0.655000	0.94253	GGA		0.478	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		32	58	0	0	0	1	0	32	58					T	26107808	C	T	26107808	3	4	374	1	0	0	0	0	1	0	0	0	7127	690	24	2	113	2	HIST1H1T	6	26107808	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		26107808	145007259	14	34334											
PHIP	55023	broad.mit.edu	37	chr6	79770432	79770432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctaataaagttTgtactccaggaacactttga	6	10	0	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:79770432T>G	ENST00000275034.4	-	5	460	c.293A>C	c.(292-294)cAa>cCa	p.Q98P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	98					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)		TAATAAAGTTTGTACTCCAGG	0.343																																						ENST00000275034.4																			0				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						c.(292-294)cAa>cCa		pleckstrin homology domain interacting protein							75	78	77					6																	79770432		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79770432T>G	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.293A>C	6.37:g.79770432T>G	ENSP00000275034:p.Gln98Pro						p.Q98P	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	5	460	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	98					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.293A>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942377	0.53079	.	.	ENSG00000146247	ENST00000275034	T	0.21932	1.98	5.88	5.88	0.94601	.	0.076711	0.56097	N	0.000040	T	0.06234	0.0161	N	0.14661	0.345	0.46028	D	0.998822	P;P	0.50528	0.936;0.936	B;B	0.39258	0.295;0.295	T	0.27157	-1.0082	9	.	.	.	-13.4535	15.4401	0.75176	0.0:0.0:0.0:1.0	.	98;98	A7J992;Q8WWQ0	.;PHIP_HUMAN	P	98	ENSP00000275034:Q98P	.	Q	-	2	0	PHIP	79827151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.637000	0.61346	2.245000	0.73994	0.482000	0.46254	CAA		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			12	30	0	0	0	1	0	12	30					G	79770432	T	G	79770432	3	3	374	1	0	0	0	0	1	0	0	0	11842	1812	63	5	5316	5	PHIP	6	79770432	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	53662624	79770432	91344635	15	34335											
ABCA13	154664	broad.mit.edu	37	chr7	48311922	48311922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggcctaaatcaccagctAtgaacatagattttgtacgt	7	8	1	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr7:48311922A>G	ENST00000435803.1	+	17	2683	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	887					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						ATCACCAGCTATGAACATAGA	0.353																																						ENST00000435803.1																			0				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						c.(2659-2661)Atg>Gtg		ATP-binding cassette, sub-family A (ABC1), member 13							122	121	122					7																	48311922		1839	4083	5922	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311922A>G	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.2659A>G	7.37:g.48311922A>G	ENSP00000411096:p.Met887Val						p.M887V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2683	+			887					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2659A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	4.160	0.028156	0.08054	.	.	ENSG00000179869	ENST00000435803	D	0.84070	-1.8	5.46	-7.66	0.01277	.	1.634110	0.03766	N	0.259005	T	0.52092	0.1713	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48387	-0.9040	10	0.16420	T	0.52	.	2.77	0.05332	0.5196:0.093:0.1365:0.2509	.	887	Q86UQ4	ABCAD_HUMAN	V	887	ENSP00000411096:M887V	ENSP00000411096:M887V	M	+	1	0	ABCA13	48282468	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.729000	0.00806	-0.923000	0.03785	-0.973000	0.02599	ATG		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		34	54	0	0	0	1	0	34	54					G	48311922	A	G	48311922	3	3	374	1	0	0	0	0	1	0	0	0	31	449	16	3	2554	3	ABCA13	7	48311922	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		48311922	110826741	16	34336											
OR13C5	138799	broad.mit.edu	37	chr9	107361002	107361002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtttgcttctcccctcCgaagagctaattttgaagat	9	9	1	3	rs78992791	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:107361002C>T	ENST00000374779.2	-	1	786	c.693G>A	c.(691-693)tcG>tcA	p.S231S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTCTCCCCTCCGAAGAGCTAA	0.428																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(691-693)tcG>tcA		olfactory receptor, family 13, subfamily C, member 5							123	114	117					9																	107361002		2203	4300	6503	SO:0001819	synonymous_variant	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361002C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.693G>A	9.37:g.107361002C>T							p.S231S	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	786	-			231					B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	c.693G>A	CCDS35091.1																																																																																				0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		40	63	0	0	0	1	0	40	63					T	107361002	C	T	107361002	2	4	374	1	0	0	0	0	0	0	0	1	10937	639	23	1		1	OR13C5	9	107361002	Silent	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		107361002	33852429	17	34337											
WDR38	401551	broad.mit.edu	37	chr9	127618017	127618017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaagagcgaagtgtctgCgggtcctgaagggtgagtga	18	6	1	4	rs528155278	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:127618017C>T	ENST00000373574.1	+	3	351	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	99					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAAGTGTCTGCGGGTCCTGAA	0.617											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		19618	0.0		0.0	False		,,,				2504	0.002					ENST00000373574.1																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(295-297)Cgg>Tgg		WD repeat domain 38							85	92	90					9																	127618017		2172	4249	6421	SO:0001583	missense	401551							g.chr9:127618017C>T		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"WD repeat domain containing"	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.295C>T	9.37:g.127618017C>T	ENSP00000362677:p.Arg99Trp		OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1558		p.R99W	NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN			3	351	+			99					A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	c.295C>T	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668132	0.47677	.	.	ENSG00000136918	ENST00000373574	T	0.61274	0.12	4.37	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.019810	0.07871	N	0.967941	T	0.67664	0.2917	M	0.93016	3.37	0.21184	N	0.999768	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.60752	-0.7201	10	0.62326	D	0.03	.	10.0121	0.41992	0.0:0.8998:0.0:0.1002	.	99;88;99	B7ZW23;B7ZW24;Q5JTN6	.;.;WDR38_HUMAN	W	99	ENSP00000362677:R99W	ENSP00000362677:R99W	R	+	1	2	WDR38	126657838	0.020000	0.18652	0.815000	0.32552	0.129000	0.20672	1.026000	0.30103	1.054000	0.40438	0.462000	0.41574	CGG		0.617	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		4	87	0	0	0	1	0	4	87					T	127618017	C	T	127618017	3	4	374	1	0	0	0	0	1	0	0	0	17289	759	27	1	305	1	WDR38	9	127618017	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	20257015	127618017	13595414	18	34338											
OR4C15	81309	broad.mit.edu	37	chr11	55322861	55322861	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatggaacagactgatggTggtttctgatgagaaagaaa	12	3	1	5			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:55322861T>C	ENST00000314644.2	+	1	1079	c.1079T>C	c.(1078-1080)gTg>gCg	p.V360A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306						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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGACTGATGGTGGTTTCTGAT	0.303										HNSCC(20;0.049)																												ENST00000314644.2																			0				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						c.(1078-1080)gTg>gCg		olfactory receptor, family 4, subfamily C, member 15							46	46	46					11																	55322861		2201	4293	6494	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322861T>C	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.1079T>C	11.37:g.55322861T>C	ENSP00000324958:p.Val360Ala	HNSCC(20;0.049)					p.V360A	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	1079	+			306					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1079T>C	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384425	0.25031	.	.	ENSG00000181939	ENST00000314644	T	0.00004	9.81	4.8	0.874	0.19124	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.00195	-1.1932	9	0.29301	T	0.29	.	4.5078	0.11896	0.0:0.2043:0.1658:0.63	.	306	Q8NGM1	OR4CF_HUMAN	A	360	ENSP00000324958:V360A	ENSP00000324958:V360A	V	+	2	0	OR4C15	55079437	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.170000	0.09897	0.328000	0.23435	0.323000	0.21402	GTG		0.303	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		4	66	0	0	0	1	0	4	66					C	55322861	T	C	55322861	3	2	374	1	0	0	0	0	1	0	0	0	11048	1696	59	3	1081	3	OR4C15	11	55322861	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08		55322861	79683655	19	34339											
GIF	2694	broad.mit.edu	37	chr11	59612897	59612897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgtagcccagagaagGctcaggaggtagagggcaaa	15	9	1	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:59612897G>A	ENST00000257248.2	-	1	77	c.30C>T	c.(28-30)agC>agT	p.S10S	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	10					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)	CCCAGAGAAGGCTCAGGAGGT	0.512																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000257248.2																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(28-30)agC>agT		gastric intrinsic factor (vitamin B synthesis)							173	169	171					11																	59612897		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59612897G>A	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.30C>T	11.37:g.59612897G>A						GIF_ENST00000541311.1_5'UTR	p.S10S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN			1	77	-			10					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.30C>T	CCDS7977.1																																																																																				0.512	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		14	97	0	0	0	1	0	14	97					A	59612897	G	A	59612897	2	1	374	1	0	0	0	0	0	0	0	1	6376	1194	42	2		2	GIF	11	59612897	Silent	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	4290036	59612897	75393619	20	34340											
SLC38A2	54407	broad.mit.edu	37	chr12	46758436	46758436	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatacccaccacaatcagAaagaacaccatacacaacaa	2	14	2	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr12:46758436A>G	ENST00000256689.5	-	9	1140	c.696T>C	c.(694-696)ttT>ttC	p.F232F	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	232					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCACAATCAGAAAGAACACCA	0.328																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(694-696)ttT>ttC		solute carrier family 38, member 2							78	89	85					12																	46758436		2202	4299	6501	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46758436A>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.696T>C	12.37:g.46758436A>G						SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F	p.F232F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	9	1140	-	Lung SC(27;0.192)|Renal(347;0.236)		232					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.696T>C	CCDS8749.1																																																																																				0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			22	29	0	0	0	1	0	22	29					G	46758436	A	G	46758436	2	3	374	1	0	0	0	0	0	0	0	1	14604	243	9	3		3	SLC38A2	12	46758436	Silent	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		46758436	87093459	21	34341											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491039	73491039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtttgagtcttatccGctcatggtttctcaggcgct	11	11	3	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr14:73491039G>A	ENST00000556143.1	-	2	898	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	60					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)			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)		AGTCTTATCCGCTCATGGTTT	0.547																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(178-180)Cgg>Tgg		zinc finger, FYVE domain containing 1							103	102	103					14																	73491039		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491039G>A	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.178C>T	14.37:g.73491039G>A	ENSP00000450742:p.Arg60Trp					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W	p.R60W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	898	-		all_lung(585;1.33e-09)	60					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.178C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239208	0.39598	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.70282	-0.43;-0.47;-0.47	5.13	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75581	-0.3268	10	0.87932	D	0	-22.0734	8.7214	0.34443	0.0754:0.0:0.7748:0.1498	.	60;60	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	W	60	ENSP00000452442:R60W;ENSP00000326921:R60W;ENSP00000450742:R60W	ENSP00000326921:R60W	R	-	1	2	ZFYVE1	72560792	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	4.105000	0.57797	1.424000	0.47217	-0.225000	0.12378	CGG		0.547	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		4	110	0	0	0	1	0	4	110					A	73491039	G	A	73491039	3	1	374	1	0	0	0	0	1	0	0	0	17660	1086	38	1	2199	1	ZFYVE1	14	73491039	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		73491039	33858501	22	34342											
OCA2	4948	broad.mit.edu	37	chr15	28202829	28202829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctcctcgcggctggcCgggctgatgcgctgagcagt	16	13	1	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:28202829C>T	ENST00000354638.3	-	16	1844	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	OCA2_ENST00000382996.2_Silent_p.P563P|OCA2_ENST00000353809.5_Silent_p.P539P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	563					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGCGGCTGGCCGGGCTGATGC	0.632									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1687-1689)ccG>ccA		oculocutaneous albinism II							25	27	26					15																	28202829		2194	4288	6482	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202829C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1689G>A	15.37:g.28202829C>T						OCA2_ENST00000353809.5_Silent_p.P539P|OCA2_ENST00000382996.2_Silent_p.P563P	p.P563P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1844	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	563					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1689G>A	CCDS10020.1																																																																																				0.632	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		5	38	0	0	0	1	0	5	38					T	28202829	C	T	28202829	2	4	374	1	0	0	0	0	0	0	0	1	10815	639	23	1		1	OCA2	15	28202829	Silent	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		28202829	74328563	23	34343											
PRTG	283659	broad.mit.edu	37	chr15	55916585	55916585	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatcattggcattaaagaTtcttcatttcctacagctcc	5	10	3	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:55916585T>C	ENST00000389286.4	-	18	3095	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCATTAAAGATTCTTCATTTC	0.473																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3046-3048)gaA>gaG		protogenin							166	148	154					15																	55916585		1906	4129	6035	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55916585T>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3048A>G	15.37:g.55916585T>C							p.E1016E	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	18	3095	-			1016						Silent	SNP	ENST00000389286.4	37	c.3048A>G	CCDS42040.1																																																																																				0.473	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		3	84	0	0	0	1	0	3	84					C	55916585	T	C	55916585	2	2	374	1	0	0	0	0	0	0	0	1	12638	1490	52	3		3	PRTG	15	55916585	Silent	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	27713756	55916585	46614807	24	34344											
TTC23	64927	broad.mit.edu	37	chr15	99678297	99678297	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaaggccactttggcttttGatgcctgccttggcttcgaa	11	10	0	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:99678297G>C	ENST00000394132.2	-	14	2079	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	RP11-6O2.3_ENST00000564527.1_RNA|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	421										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTTGGCTTTTGATGCCTGCCT	0.637																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(1261-1263)tCa>tGa		tetratricopeptide repeat domain 23							47	53	51					15																	99678297		1988	4154	6142	SO:0001587	stop_gained	64927						binding	g.chr15:99678297G>C		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1262C>G	15.37:g.99678297G>C	ENSP00000377690:p.Ser421*					TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421*	p.S421*			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		14	2079	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		421					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Nonsense_Mutation	SNP	ENST00000394132.2	37	c.1262C>G	CCDS10379.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.527802|7.527802	0.98339|0.98339	.|.	.|.	ENSG00000103852|ENSG00000103852	ENST00000434594|ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135	.|.	.|.	.|.	4.94|4.94	0.998|0.998	0.19857|0.19857	.|.	.|1.387220	.|0.06696	.|U	.|0.770624	T|.	0.24699|.	0.0599|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	4|.	.|0.26408	.|T	.|0.33	0.0306|0.0306	4.3813|4.3813	0.11295|0.11295	0.1729:0.0:0.2765:0.5506|0.1729:0.0:0.2765:0.5506	.|.	.|.	.|.	.|.	E|X	232|421	.|.	.|ENSP00000262074:S421X	Q|S	-|-	1|2	0|0	TTC23|TTC23	97495820|97495820	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.705000|0.705000	0.25675|0.25675	-0.003000|-0.003000	0.14444|0.14444	-0.309000|-0.309000	0.09137|0.09137	CAA|TCA		0.637	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		19	19	0	0	0	1	0	19	19					C	99678297	G	C	99678297	4	2	374	1	0	0	0	0	0	1	0	0	16687	1294	45	4	85	4	TTC23	15	99678297	Nonsense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	43761712	99678297	2853095	25	34345											
NLRC3	197358	broad.mit.edu	37	chr16	3606946	3606946	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcggttgatcttcaaagCgtctgccagcgccttggccc	13	13	3	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr16:3606946C>T	ENST00000301749.7	-	0	2554				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_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						ATCTTCAAAGCGTCTGCCAGC	0.582																																						ENST00000301749.7																			0				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								NLR family, CARD domain containing 3							77	86	83					16																	3606946		1964	4151	6115			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3606946C>T	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.3606946C>T						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2554	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	19.73	3.881219	0.72294	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.55234	0.53;0.53;0.53	5.37	4.33	0.51752	.	0.066995	0.64402	D	0.000016	T	0.53642	0.1809	.	.	.	0.24939	N	0.991864	D	0.59767	0.986	P	0.48738	0.588	T	0.51795	-0.8660	9	0.44086	T	0.13	.	14.4091	0.67103	0.1577:0.8423:0.0:0.0	.	764	C9JLH9	.	T	717;717;717;764	ENSP00000301749:A717T;ENSP00000352039:A717T;ENSP00000414415:A764T	ENSP00000301749:A717T	A	-	1	0	NLRC3	3546947	0.998000	0.40836	0.970000	0.41538	0.470000	0.32858	4.111000	0.57838	2.539000	0.85634	0.644000	0.83932	GCT		0.582	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		11	10	0	0	0	1	0	11	10					T	3606946	C	T	3606946	1	4	374	0	1	0	0	0	0	0	0	0	10468	768	27	1		1	NLRC3	16	3606946	RNA	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		3606946	86747807	26	34346											
ZNF333	84449	broad.mit.edu	37	chr19	14830055	14830055	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actcactgtacacaaaagaaCccatgtgggaagagagacca	9	10	1	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:14830055C>G	ENST00000292530.6	+	12	2007	c.1916C>G	c.(1915-1917)aCc>aGc	p.T639S	ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	639					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CACAAAAGAACCCATGTGGGA	0.453																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1915-1917)aCc>aGc		zinc finger protein 333							123	125	124					19																	14830055		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14830055C>G		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1916C>G	19.37:g.14830055C>G	ENSP00000292530:p.Thr639Ser					ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S	p.T639S	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	2007	+			639					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.1916C>G	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959835	0.34565	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07567	3.18;3.18	2.61	-5.22	0.02806	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32903	-0.9889	9	0.35671	T	0.21	.	8.2916	0.31960	0.0:0.1683:0.1265:0.7051	.	639	Q96JL9	ZN333_HUMAN	S	530;639	ENSP00000439749:T530S;ENSP00000292530:T639S	ENSP00000292530:T639S	T	+	2	0	ZNF333	14691055	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-1.753000	0.01818	-1.929000	0.01057	0.655000	0.94253	ACC		0.453	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		7	67	0	0	0	1	0	7	67					G	14830055	C	G	14830055	3	3	374	1	0	0	0	0	1	0	0	0	17847	507	18	4	1958	4	ZNF333	19	14830055	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		14830055	44298928	27	34347											
ZNF444	55311	broad.mit.edu	37	chr19	56658436	56658436	+	Frame_Shift_Del	DEL	G	G	-													cgggactggctgcggcccgaGgtgcacaccaaggagcagat							TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:56658436delG	ENST00000337080.3	+	3	523	c.156delG	c.(154-156)gagfs	p.E52fs	ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	52	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)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCGGCCCGAGGTGCACACCA	0.746																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(154-156)gafs		zinc finger protein 444							10	10	10					19																	56658436		2155	4242	6397	SO:0001589	frameshift_variant	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56658436delG	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.156delG	19.37:g.56658436delG	ENSP00000338860:p.Glu52fs					ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs	p.E52fs	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	3	523	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	52			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Frame_Shift_Del	DEL	ENST00000337080.3	37	c.156delG	CCDS12939.1																																																																																				0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		2	4						2	4	---	---	---	---	-	56658436	G	-	56658436	7	5	374	1	0	1	0	1	0	0	0	0	17914	991	35	0	158	0	ZNF444	19	56658436	Frame_Shift_Del	DEL	G	TCGA-P5-A737-01A-11D-A32B-08	41828381	56658436	2470547	28	34348											
MOV10L1	54456	broad.mit.edu	37	chr22	50591600	50591600	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgacctccttgctgggctggGagaagttgcctaagaaaggc	14	9	0	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr22:50591600G>C	ENST00000262794.5	+	22	3102	c.3019G>C	c.(3019-3021)Gag>Cag	p.E1007Q	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1007					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)		GCTGGGCTGGGAGAAGTTGCC	0.587																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3019-3021)Gag>Cag		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							244	224	231					22																	50591600		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50591600G>C	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.3019G>C	22.37:g.50591600G>C	ENSP00000262794:p.Glu1007Gln					MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q	p.E1007Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3102	+		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)	1007					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3019G>C	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.755886	0.69648	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.11	5.11	0.69529	.	0.283290	0.40728	N	0.001023	D	0.86859	0.6034	L	0.59436	1.845	0.35206	D	0.774697	D;P;B;D;D	0.60160	0.987;0.906;0.354;0.978;0.978	P;P;B;P;P	0.56916	0.809;0.66;0.283;0.776;0.776	D	0.90648	0.4580	10	0.51188	T	0.08	-26.6739	14.9685	0.71213	0.0:0.0:0.8568:0.1432	.	987;50;134;1007;1007	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	Q	1007;1007;1007;50;987;134;50	ENSP00000438978:E1007Q;ENSP00000262794:E1007Q;ENSP00000379199:E1007Q;ENSP00000379184:E50Q;ENSP00000438542:E987Q;ENSP00000379193:E134Q;ENSP00000346917:E50Q	ENSP00000262794:E1007Q	E	+	1	0	MOV10L1	48933727	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.795000	0.69074	2.376000	0.81061	0.462000	0.41574	GAG		0.587	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		46	42	0	0	0	1	0	46	42					C	50591600	G	C	50591600	3	2	374	1	0	0	0	0	1	0	0	0	9719	1175	41	4	3158	4	MOV10L1	22	50591600	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		50591600	712966	29	34349											
PLXNA3	55558	broad.mit.edu	37	chrX	153697253	153697253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgccatcacgggcgagGcacgatactccctgagcgag	13	12	1	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chrX:153697253G>A	ENST00000369682.3	+	25	4550	c.4375G>A	c.(4375-4377)Gca>Aca	p.A1459T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1459					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)					CACGGGCGAGGCACGATACTC	0.617																																						ENST00000369682.3																			0				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						c.(4375-4377)Gca>Aca		plexin A3							120	89	100					X																	153697253		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697253G>A	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.4375G>A	X.37:g.153697253G>A	ENSP00000358696:p.Ala1459Thr						p.A1459T	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			25	4550	+	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)		1459					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4375G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056927	0.76074	.	.	ENSG00000130827	ENST00000369682	T	0.24350	1.86	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74300	-0.3710	10	0.87932	D	0	.	17.0496	0.86515	0.0:0.0:1.0:0.0	.	1459	P51805	PLXA3_HUMAN	T	1459	ENSP00000358696:A1459T	ENSP00000358696:A1459T	A	+	1	0	PLXNA3	153350447	1.000000	0.71417	0.982000	0.44146	0.312000	0.27988	9.860000	0.99555	2.289000	0.77006	0.600000	0.82982	GCA		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		3	41	0	0	0	1	0	3	41					A	153697253	G	A	153697253	3	1	374	1	0	0	0	0	1	0	0	0	12121	1203	42	2	4469	2	PLXNA3	23	153697253	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		153697253	1573307	30	34350											
ARID1A	8289	broad.mit.edu	37	chr1	27088645	27088646	+	Frame_Shift_Del	DEL	TA	TA	-													gatgctacccacaaataggtTatatgcagaggaacccccag							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:27088645_27088646delTA	ENST00000324856.7	+	7	2625_2626	c.2254_2255delTA	c.(2254-2256)tatfs	p.Y752fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	752					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)		ACAAATAGGTTATATGCAGAGG	0.48			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(2254-2256)tfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27088645_27088646delTA	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.2254_2255delTA	1.37:g.27088647_27088648delTA	ENSP00000320485:p.Tyr752fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs	p.Y752fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	7	2625_2626	+		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)	752					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.2254_2255delTA	CCDS285.1																																																																																				0.48	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	66						7	66	---	---	---	---	-	27088646	TA	-	27088645	7	5	375	1	0	1	0	1	0	0	0	0	913	1754	61	0	2280	0	ARID1A	1	27088645	Frame_Shift_Del	DEL	TA	TCGA-P5-A77W-01A-11D-A32B-08		27088645	222161976	1	34351											
GNAI3	2773	broad.mit.edu	37	chr1	110121875	110121876	+	Frame_Shift_Ins	INS	-	-	G													ggcagtgctgaagaaggagtINScatgactccagaactagcag							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:110121875_110121876insG	ENST00000369851.4	+	4	463_464	c.353_354insG	c.(352-357)gtcatgfs	p.M119fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	119					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)		GAAGAAGGAGTCATGACTCCAG	0.446																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(352-354)gatfs		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3																																				SO:0001589	frameshift_variant	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110121875_110121876insG	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	Exception_encountered	1.37:g.110121875_110121876insG	ENSP00000358867:p.Met119fs						p.D118fs	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		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)	4	463_464	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	118					P17539|Q5TZX1	Frame_Shift_Ins	INS	ENST00000369851.4	37	c.353_354insG	CCDS802.1																																																																																				0.446	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		7	55						7	55	---	---	---	---	G	110121876	-	G	110121875	7	5	375	1	0	1	1	0	0	0	0	0	6506	1667	58	0	367	0	GNAI3	1	110121875	Frame_Shift_Ins	INS	-	TCGA-P5-A77W-01A-11D-A32B-08	83033230	110121875	139128746	2	34352											
NBPF14	25832	broad.mit.edu	37	chr1	148009497	148009497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttcaggctctttctcatCcaacagctccccgctgagcc	7	17	3	1	rs587658035	byFrequency	TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:148009497C>T	ENST00000369219.1	-	16	1826	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	604	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCTTTCTCATCCAACAGCTCC	0.478																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1810-1812)Gat>Aat		neuroblastoma breakpoint family, member 14							130	236	208					1																	148009497		1436	4047	5483	SO:0001583	missense	25832					cytoplasm		g.chr1:148009497C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1810G>A	1.37:g.148009497C>T	ENSP00000358221:p.Asp604Asn						p.D604N			Q5TI25	NBPFE_HUMAN			16	1826	-	all_hematologic(923;0.032)		604			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1810G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.411|6.411	0.443884|0.443884	0.12164|0.12164	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701	T|.	0.07114|.	3.22|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|.	0.24084|.	0.0583|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21518|.	-1.0243|.	4|.	0.39692|.	T|.	0.17|.	.|.	.|.	.|.	.|.	.|.	604|.	Q5TI25|.	NBPFE_HUMAN|.	N|X	604;194|609	ENSP00000358221:D604N|.	ENSP00000358221:D604N|.	D|W	-|-	1|3	0|0	NBPF14|NBPF14	146476121|146476121	0.683000|0.683000	0.27633|0.27633	.|.	.|.	.|.	.|.	0.654000|0.654000	0.24918|0.24918	.|.	.|.	.|.	.|.	GAT|TGG		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		20	164	0	0	0	1	0	20	164					T	148009497	C	T	148009497	3	4	375	1	0	0	0	0	1	0	0	0	10194	855	30	2	983	2	NBPF14	1	148009497	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	37887622	148009497	101241124	3	34353											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	59	0	0	0	1	0	4	59					T	153907309	C	T	153907309	2	4	375	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	5897812	153907309	95343312	4	34354											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					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)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	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.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		3	46	0	0	0	1	0	3	46					A	162769603	G	A	162769603	3	1	375	1	0	0	0	0	1	0	0	0	7388	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	8862294	162769603	86481018	5	34355											
HMCN1	83872	broad.mit.edu	37	chr1	185988673	185988673	+	Splice_Site	SNP	T	T	A													tcccccttccttaaatatagTtcctccaacaatcaagtcct							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988673T>A	ENST00000271588.4	+	35	5700	c.5471T>A	c.(5470-5472)gTt>gAt	p.V1824D	HMCN1_ENST00000367492.2_Splice_Site_p.V1824D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					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						TTAAATATAGTTCCTCCAACA	0.403																																						ENST00000271588.4																			0				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						c.e35-1		hemicentin 1							88	90	89					1																	185988673		2203	4299	6502	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185988673T>A	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.5471-1T>A	1.37:g.185988673T>A						HMCN1_ENST00000367492.2_Splice_Site_p.V1824_splice	p.V1824_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			35	5700	+			1824					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.5470_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.195013	0.78902	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77489	-1.1;-1.1	5.56	5.56	0.83823	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.88921	0.3366	9	.	.	.	.	15.7155	0.77663	0.0:0.0:0.0:1.0	.	1824	Q96RW7	HMCN1_HUMAN	D	1824	ENSP00000271588:V1824D;ENSP00000356462:V1824D	.	V	+	2	0	HMCN1	184255296	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.219000	0.78000	2.100000	0.63781	0.528000	0.53228	GTT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	10	58	0	0	0	1	0	10	58					A	185988673	T	A	185988673	5	1	375	1	0	0	0	0	0	0	1	0	7220	1739	60	5	5609	5	HMCN1	1	185988673	Splice_Site	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	23219070	185988673	63261948	6	34356	150	3									
HMCN1	83872	broad.mit.edu	37	chr1	185988674	185988674	+	Splice_Site	SNP	T	T	G													cccccttccttaaatatagtTcctccaacaatcaagtcctc							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988674T>G	ENST00000271588.4	+	35	5701	c.5472T>G	c.(5470-5472)gtT>gtG	p.V1824V	HMCN1_ENST00000367492.2_Splice_Site_p.V1824V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					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						TAAATATAGTTCCTCCAACAA	0.403																																						ENST00000271588.4																			0				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						c.e35-1		hemicentin 1							87	90	89					1																	185988674		2203	4299	6502	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185988674T>G	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.5471-1T>G	1.37:g.185988674T>G						HMCN1_ENST00000367492.2_Splice_Site_p.V1824_splice	p.V1824_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			35	5701	+			1824					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.5470_splice	CCDS30956.1																																																																																				0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Silent	10	58	0	0	0	1	0	10	58					G	185988674	T	G	185988674	5	3	375	1	0	0	0	0	0	0	1	0	7220	1797	62	5	5610	5	HMCN1	1	185988674	Splice_Site	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	1	185988674	63261947	7	34357	150	3									
HMCN1	83872	broad.mit.edu	37	chr1	185988675	185988675	+	Missense_Mutation	SNP	C	C	T													ccccttccttaaatatagttCctccaacaatcaagtcctca							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988675C>T	ENST00000271588.4	+	35	5702	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1825					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						AAATATAGTTCCTCCAACAAT	0.403																																						ENST00000271588.4																			0				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						c.(5473-5475)Cct>Tct		hemicentin 1							87	90	89					1																	185988675		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185988675C>T	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.5473C>T	1.37:g.185988675C>T	ENSP00000271588:p.Pro1825Ser					HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			35	5702	+			1825					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5473C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913565	0.33815	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75154	-0.91;-0.91	5.56	4.46	0.54185	Immunoglobulin-like fold (1);	0.105252	0.64402	D	0.000003	D	0.83695	0.5310	M	0.68952	2.095	0.48696	D	0.999695	D	0.76494	0.999	D	0.79784	0.993	T	0.82723	-0.0316	10	0.38643	T	0.18	.	15.3067	0.73998	0.0:0.9215:0.0:0.0785	.	1825	Q96RW7	HMCN1_HUMAN	S	1825	ENSP00000271588:P1825S;ENSP00000356462:P1825S	ENSP00000271588:P1825S	P	+	1	0	HMCN1	184255298	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.321000	0.65846	2.598000	0.87819	0.650000	0.86243	CCT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	58	0	0	0	1	0	10	58					T	185988675	C	T	185988675	3	4	375	1	0	0	0	0	1	0	0	0	7220	855	30	2	5611	2	HMCN1	1	185988675	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	1	185988675	63261946	8	34358	150	3									
HEATR5B	54497	broad.mit.edu	37	chr2	37306396	37306396	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttagctaataattttcGtgtaggtggtccaggtgaac	10	5	0	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:37306396G>A	ENST00000233099.5	-	3	300	c.205C>T	c.(205-207)Cga>Tga	p.R69*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	69						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)				AATAATTTTCGTGTAGGTGGT	0.313																																						ENST00000233099.5																			0				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						c.(205-207)Cga>Tga		HEAT repeat containing 5B							112	108	109					2																	37306396		2201	4299	6500	SO:0001587	stop_gained	54497						binding	g.chr2:37306396G>A	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.205C>T	2.37:g.37306396G>A	ENSP00000233099:p.Arg69*					HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69*	p.R69*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			3	300	-		all_hematologic(82;0.21)	69					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.205C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946858	0.73672	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	5.75	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7868	16.3395	0.83078	0.0:0.0:0.7481:0.2519	.	.	.	.	X	69	.	ENSP00000233099:R69X	R	-	1	2	HEATR5B	37159900	0.998000	0.40836	0.905000	0.35620	0.138000	0.21146	2.637000	0.46553	1.403000	0.46800	0.563000	0.77884	CGA		0.313	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		13	27	0	0	0	1	0	13	27					A	37306396	G	A	37306396	4	1	375	1	0	0	0	0	0	1	0	0	7032	1153	40	1	6146	1	HEATR5B	2	37306396	Nonsense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		37306396	205892977	9	34359											
LY75	4065	broad.mit.edu	37	chr2	160741690	160741690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actccactgtattatttaatGgtttcctgcagacatagggc	8	9	0	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:160741690G>T	ENST00000263636.4	-	6	1055	c.1028C>A	c.(1027-1029)cCa>cAa	p.P343Q	LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q|LY75_ENST00000554112.1_Missense_Mutation_p.P343Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	343					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTATTTAATGGTTTCCTGCA	0.398																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1027-1029)cCa>cAa		lymphocyte antigen 75							96	98	97					2																	160741690		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160741690G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1028C>A	2.37:g.160741690G>T	ENSP00000263636:p.Pro343Gln					LY75_ENST00000554112.1_Missense_Mutation_p.P343Q|LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q	p.P343Q	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	6	1055	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1028C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	3.438	-0.114661	0.06881	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.77	3.69	0.42338	C-type lectin fold (1);C-type lectin-like (1);	0.240857	0.21622	N	0.071634	T	0.30198	0.0757	N	0.13043	0.29	0.24518	N	0.994175	B;B;B	0.21147	0.051;0.016;0.052	B;B;B	0.19946	0.027;0.012;0.027	T	0.15292	-1.0442	10	0.13853	T	0.58	-0.5793	8.0586	0.30619	0.0935:0.0:0.693:0.2135	.	343;343;343	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Q	343	ENSP00000451511:P343Q;ENSP00000451446:P343Q;ENSP00000263636:P343Q;ENSP00000423463:P343Q;ENSP00000421035:P343Q	ENSP00000423463:P343Q	P	-	2	0	LY75;LY75-CD302	160449936	0.750000	0.28316	0.645000	0.29479	0.503000	0.33858	1.762000	0.38451	1.348000	0.45733	0.650000	0.86243	CCA		0.398	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			34	52	1	0	6.90743e-12	1	7.87125e-12	34	52					T	160741690	G	T	160741690	3	4	375	1	0	0	0	0	1	0	0	0	9099	1348	47	4	4260	4	LY75	2	160741690	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	123435294	160741690	82457683	10	34360											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	24	0	0	0	1	0	19	24					T	209113112	C	T	209113112	3	4	375	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	48371422	209113112	34086261	11	34361											
ARIH2	10425	broad.mit.edu	37	chr3	49004696	49004701	+	In_Frame_Del	DEL	GGCGTG	GGCGTG	-													gctcagttctcgtcaaggacGgcgtgggcgtgggtgagtct					rs375530222		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:49004696_49004701delGGCGTG	ENST00000356401.4	+	6	865_870	c.526_531delGGCGTG	c.(526-531)ggcgtgdel	p.GV180del	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	180					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)		CGTCAAGGACGGCGTGGGCGTGGGTG	0.476																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(526-531)del		ariadne RBR E3 ubiquitin protein ligase 2																																				SO:0001651	inframe_deletion	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004696_49004701delGGCGTG	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.526_531delGGCGTG	3.37:g.49004702_49004707delGGCGTG	ENSP00000348769:p.Gly180_Val181del					ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del|ARIH2_ENST00000490095.1_3'UTR	p.GV180del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	865_870	+			180					Q9HBZ6|Q9UEM9	In_Frame_Del	DEL	ENST00000356401.4	37	c.526_531delGGCGTG	CCDS2780.1																																																																																				0.476	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		7	60						7	60	---	---	---	---	-	49004701	GGCGTG	-	49004696	7	5	375	1	0	1	0	1	0	0	0	0	924	1116	39	0	540	0	ARIH2	3	49004696	In_Frame_Del	DEL	GGCGTG	TCGA-P5-A77W-01A-11D-A32B-08		49004696	149017734	12	34362											
KIAA1407	57577	broad.mit.edu	37	chr3	113724396	113724396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggttcctcttctctgggCtttgacagcaggtggctctg	12	11	3	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:113724396C>A	ENST00000295878.3	-	10	1973	c.1827G>T	c.(1825-1827)aaG>aaT	p.K609N	KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	609										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTCTGGGCTTTGACAGCA	0.502																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1825-1827)aaG>aaT		KIAA1407							120	121	120					3																	113724396		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724396C>A	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.1827G>T	3.37:g.113724396C>A	ENSP00000295878:p.Lys609Asn					KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N	p.K609N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			10	1973	-			609					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1827G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	3.213	-0.161178	0.06502	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.45276	1.49;0.9;1.01	5.49	-0.574	0.11738	.	0.557408	0.21155	N	0.079243	T	0.08447	0.0210	N	0.00563	-1.375	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	0.25328	-1.0135	10	0.12430	T	0.62	.	0.847	0.01163	0.2823:0.1359:0.3312:0.2506	.	596;485;609	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	N	609;440;596	ENSP00000295878:K609N;ENSP00000446381:K440N;ENSP00000418099:K596N	ENSP00000295878:K609N	K	-	3	2	KIAA1407	115207086	0.001000	0.12720	0.017000	0.16124	0.598000	0.36846	-0.160000	0.10041	-0.004000	0.14419	-0.262000	0.10625	AAG		0.502	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		7	82	1	0	5.18039e-06	1	5.51824e-06	7	82					A	113724396	C	A	113724396	3	1	375	1	0	0	0	0	1	0	0	0	8229	796	28	4	1015	4	KIAA1407	3	113724396	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	64719700	113724396	84298034	13	34363											
SLCO4C1	353189	broad.mit.edu	37	chr5	101627180	101627180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctttcaccaaagaatgaTacaaataaagacaacaaaca	3	10	2	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr5:101627180T>C	ENST00000310954.6	-	2	772	c.486A>G	c.(484-486)gtA>gtG	p.V162V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAAAGAATGATACAAATAAAG	0.398																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(484-486)gtA>gtG		solute carrier organic anion transporter family, member 4C1							68	64	65					5																	101627180		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101627180T>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.486A>G	5.37:g.101627180T>C							p.V162V	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	772	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	162						Silent	SNP	ENST00000310954.6	37	c.486A>G	CCDS34205.1																																																																																				0.398	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		5	27	0	0	0	1	0	5	27					C	101627180	T	C	101627180	2	2	375	1	0	0	0	0	0	0	0	1	14730	1393	49	3		3	SLCO4C1	5	101627180	Silent	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		101627180	79288080	14	34364											
SERPINB9	5272	broad.mit.edu	37	chr6	2900835	2900836	+	Frame_Shift_Del	DEL	AG	AG	-													aagtaccacttgcattagaaAgagtttccatgatgcagggc					rs374744357		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:2900835_2900836delAG	ENST00000380698.4	-	2	99_100	c.10_11delCT	c.(10-12)cttfs	p.L4fs		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	4					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TGCATTAGAAAGAGTTTCCATG	0.436																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(10-12)tfs		serpin peptidase inhibitor, clade B (ovalbumin), member 9																																				SO:0001589	frameshift_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2900835_2900836delAG	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.10_11delCT	6.37:g.2900837_2900838delAG	ENSP00000370074:p.Leu4fs						p.L4fs	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			2	99_100	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	4					B2RBW3|Q5TD03	Frame_Shift_Del	DEL	ENST00000380698.4	37	c.10_11delCT	CCDS4478.1																																																																																				0.436	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			16	161						16	161	---	---	---	---	-	2900836	AG	-	2900835	7	5	375	1	0	1	0	1	0	0	0	0	14108	72	3	0	1143	0	SERPINB9	6	2900835	Frame_Shift_Del	DEL	AG	TCGA-P5-A77W-01A-11D-A32B-08		2900835	168214232	15	34365											
MEP1A	4224	broad.mit.edu	37	chr6	46793156	46793156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaagatccctgagtTtaactccattatcggacagc	7	13	0	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:46793156T>C	ENST00000230588.4	+	8	713	c.704T>C	c.(703-705)tTt>tCt	p.F235S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	235	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)			ATCCCTGAGTTTAACTCCATT	0.428																																						ENST00000230588.4																			0				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						c.(703-705)tTt>tCt		meprin A, alpha (PABA peptide hydrolase)							154	135	141					6																	46793156		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793156T>C		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.704T>C	6.37:g.46793156T>C	ENSP00000230588:p.Phe235Ser						p.F235S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	713	+			235			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.704T>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858698	0.71834	.	.	ENSG00000112818	ENST00000230588	T	0.63255	-0.03	6.16	6.16	0.99307	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.971;0.988	T	0.71411	-0.4601	10	0.54805	T	0.06	-22.4875	12.9514	0.58403	0.1211:0.0:0.0:0.8789	.	263;235	B7ZL91;Q16819	.;MEP1A_HUMAN	S	235	ENSP00000230588:F235S	ENSP00000230588:F235S	F	+	2	0	MEP1A	46901115	1.000000	0.71417	0.938000	0.37757	0.535000	0.34838	6.294000	0.72738	2.367000	0.80283	0.528000	0.53228	TTT		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		18	39	0	0	0	1	0	18	39					C	46793156	T	C	46793156	3	2	375	1	0	0	0	0	1	0	0	0	9475	1841	64	3	734	3	MEP1A	6	46793156	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	43892321	46793156	124321911	16	34366											
ADAM28	10863	broad.mit.edu	37	chr8	24199150	24199150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctgtcaaggtgggtcGgataatttgccctggaaagg	14	6	2	0	rs145453785	byFrequency	TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:24199150G>A	ENST00000265769.4	+	16	1820	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S570S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0				NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - coding silent(1)	p.S570S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1708-1710)tcG>tcA		ADAM metallopeptidase domain 28		G		3,4403	6.2+/-15.9	0,3,2200	263	251	255		1710	-1.3	0.2	8	dbSNP_134	255	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	ADAM28	NM_014265.4		0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692		570/776	24199150	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199150G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1710G>A	8.37:g.24199150G>A						RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	p.S570S	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1820	+		Prostate(55;0.0959)	570			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1710G>A	CCDS34865.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.066	-1.212798	0.01555	6.81E-4	6.98E-4	ENSG00000042980	ENST00000521629	.	.	.	5.84	-1.3	0.09259	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.22142	N	0.999336	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	2.6844	0.05103	0.6138:0.1127:0.152:0.1216	.	.	.	.	R	203	.	.	G	+	1	0	ADAM28	24255095	0.005000	0.15991	0.213000	0.23690	0.003000	0.03518	1.195000	0.32186	-0.393000	0.07739	-2.289000	0.00267	GGA		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	108	0	0	0	1	0	7	108					A	24199150	G	A	24199150	2	1	375	1	0	0	0	0	0	0	0	1	246	1103	39	1		1	ADAM28	8	24199150	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		24199150	122164872	17	34367											
PTK2B	2185	broad.mit.edu	37	chr8	27303351	27303351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctctcctacgctcaccaGccctatggagtatccatctc	6	17	3	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:27303351G>T	ENST00000397501.1	+	29	3063	c.2255G>T	c.(2254-2256)aGc>aTc	p.S752I	PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000420218.2_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	752	Pro-rich.				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)	ACGCTCACCAGCCCTATGGAG	0.542																																						ENST00000397501.1																			0				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						c.(2254-2256)aGc>aTc		protein tyrosine kinase 2 beta							192	176	181					8																	27303351		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27303351G>T	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.2255G>T	8.37:g.27303351G>T	ENSP00000380638:p.Ser752Ile					PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000338238.4_Intron	p.S752I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	29	3063	+		Ovarian(32;2.72e-05)	752			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2255G>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731166	0.89390	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000544172;ENST00000346049	T;T;T	0.75050	-0.9;-0.9;-0.9	4.75	4.75	0.60458	.	0.085190	0.85682	D	0.000000	T	0.65943	0.2740	N	0.24115	0.695	0.80722	D	1	B	0.27882	0.192	B	0.33690	0.168	T	0.68100	-0.5498	10	0.66056	D	0.02	.	15.6058	0.76668	0.0:0.0:1.0:0.0	.	752	Q14289	FAK2_HUMAN	I	752;757;752;752	ENSP00000380638:S752I;ENSP00000440926:S752I;ENSP00000332816:S752I	ENSP00000332816:S752I	S	+	2	0	PTK2B	27359268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.996000	0.93539	2.348000	0.79779	0.563000	0.77884	AGC		0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		5	137	1	0	1.23904e-05	1	1.29177e-05	5	137					T	27303351	G	T	27303351	3	4	375	1	0	0	0	0	1	0	0	0	12763	971	34	4	2345	4	PTK2B	8	27303351	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	3104201	27303351	119060671	18	34368											
TGS1	96764	broad.mit.edu	37	chr8	56699384	56699384	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gataatgatagctctggtacAagtgataaggatcatagtga	11	4	2	3	rs564885473		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:56699384A>T	ENST00000260129.5	+	4	1404	c.927A>T	c.(925-927)acA>acT	p.T309T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	309					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCTCTGGTACAAGTGATAAGG	0.343																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(925-927)acA>acT		trimethylguanosine synthase 1							82	79	80					8																	56699384		2203	4300	6503	SO:0001819	synonymous_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699384A>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.927A>T	8.37:g.56699384A>T							p.T309T	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1404	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	309					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	ENST00000260129.5	37	c.927A>T	CCDS34894.1																																																																																				0.343	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		15	35	0	0	0	1	0	15	35					T	56699384	A	T	56699384	2	4	375	1	0	0	0	0	0	0	0	1	15834	117	5	5		5	TGS1	8	56699384	Silent	SNP	A	TCGA-P5-A77W-01A-11D-A32B-08	29396033	56699384	89664638	19	34369											
MATN2	4147	broad.mit.edu	37	chr8	98943528	98943528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagggagaatgtgccacggGtcataatgatcgtgacagat	14	6	1	5			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:98943528G>T	ENST00000520016.1	+	2	614	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000524308.1_Missense_Mutation_p.V164F|MATN2_ENST00000254898.5_Missense_Mutation_p.V164F			O00339	MATN2_HUMAN	matrilin 2	164	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGCCACGGGTCATAATGAT	0.607																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(490-492)Gtc>Ttc		matrilin 2							38	43	41					8																	98943528		2066	4215	6281	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943528G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.490G>T	8.37:g.98943528G>T	ENSP00000430487:p.Val164Phe					MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000520016.1_Missense_Mutation_p.V164F|MATN2_ENST00000524308.1_Missense_Mutation_p.V164F	p.V164F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	721	+	Breast(36;1.43e-06)		164			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.490G>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944144	0.73672	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.97	3.93	0.45458	von Willebrand factor, type A (3);	0.230335	0.30455	N	0.009593	D	0.89128	0.6627	M	0.80616	2.505	0.32170	N	0.581766	P;P;D;D	0.53745	0.886;0.862;0.962;0.962	P;P;P;P	0.54856	0.673;0.543;0.661;0.762	D	0.90959	0.4811	10	0.87932	D	0	-26.5787	9.9833	0.41826	0.2368:0.0:0.7632:0.0	.	164;164;164;164	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	F	164	ENSP00000429977:V164F;ENSP00000254898:V164F;ENSP00000430221:V164F;ENSP00000430487:V164F	ENSP00000254898:V164F	V	+	1	0	MATN2	99012704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.728000	0.47319	1.505000	0.48720	0.655000	0.94253	GTC		0.607	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			12	23	1	0	4.36969e-10	1	4.86625e-10	12	23					T	98943528	G	T	98943528	3	4	375	1	0	0	0	0	1	0	0	0	9334	1261	44	4	496	4	MATN2	8	98943528	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	42244144	98943528	47420494	20	34370											
POP1	10940	broad.mit.edu	37	chr8	99142398	99142398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgccttggggagaggccaAcagtcaagagccacagagcc	13	12	1	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:99142398A>G	ENST00000401707.2	+	5	760	c.679A>G	c.(679-681)Aca>Gca	p.T227A	POP1_ENST00000349693.3_Missense_Mutation_p.T227A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	227					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGAGGCCAACAGTCAAGAG	0.498																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(679-681)Aca>Gca		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							80	78	79					8																	99142398		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142398A>G	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.679A>G	8.37:g.99142398A>G	ENSP00000385787:p.Thr227Ala					POP1_ENST00000349693.3_Missense_Mutation_p.T227A	p.T227A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	760	+	Breast(36;1.78e-06)		227					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.679A>G	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472116	0.84533	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	Ribonuclease P/MRP, subunit POP1 (1);	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	L	0.59967	1.855	0.80722	D	1	P	0.41102	0.738	P	0.53266	0.722	T	0.56450	-0.7977	9	.	.	.	-21.854	14.59	0.68356	1.0:0.0:0.0:0.0	.	227	Q99575	POP1_HUMAN	A	227	ENSP00000385787:T227A;ENSP00000339529:T227A	.	T	+	1	0	POP1	99211574	1.000000	0.71417	0.206000	0.23566	0.727000	0.41649	9.233000	0.95337	2.254000	0.74563	0.533000	0.62120	ACA		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		5	70	0	0	0	1	0	5	70					G	99142398	A	G	99142398	3	3	375	1	0	0	0	0	1	0	0	0	12251	43	2	3	693	3	POP1	8	99142398	Missense_Mutation	SNP	A	TCGA-P5-A77W-01A-11D-A32B-08	198870	99142398	47221624	21	34371											
KANK1	23189	broad.mit.edu	37	chr9	712394	712397	+	Frame_Shift_Del	DEL	AAAC	AAAC	-													gtgtgttgggacctccgtggAaacaaacagtgtaggcatct							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr9:712394_712397delAAAC	ENST00000382303.1	+	7	2280_2283	c.1628_1631delAAAC	c.(1627-1632)gaaacafs	p.ET543fs	KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	543					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACCTCCGTGGAAACAAACAGTGTA	0.515																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1627-1632)gafs		KN motif and ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712394_712397delAAAC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1628_1631delAAAC	9.37:g.712398_712401delAAAC	ENSP00000371740:p.Glu543fs					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs	p.ET543fs	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2280_2283	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	543					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Frame_Shift_Del	DEL	ENST00000382303.1	37	c.1628_1631delAAAC	CCDS34976.1																																																																																				0.515	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		7	90						7	90	---	---	---	---	-	712397	AAAC	-	712394	7	5	375	1	0	1	0	1	0	0	0	0	7976	246	9	0	1634	0	KANK1	9	712394	Frame_Shift_Del	DEL	AAAC	TCGA-P5-A77W-01A-11D-A32B-08		712394	140501037	22	34372											
LGI1	9211	broad.mit.edu	37	chr10	95556791	95556791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgttattgtggcccagcTgtttggtggctctcacatct	10	10	2	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr10:95556791T>C	ENST00000371418.4	+	8	1165	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.L254P	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	302					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTGGCCCAGCTGTTTGGTGGC	0.393																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(904-906)cTg>cCg		leucine-rich, glioma inactivated 1							135	123	127					10																	95556791		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556791T>C	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.905T>C	10.37:g.95556791T>C	ENSP00000360472:p.Leu302Pro					LGI1_ENST00000542308.1_Missense_Mutation_p.L254P|LGI1_ENST00000371413.3_Intron	p.L302P	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1165	+		Colorectal(252;0.124)	302					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.905T>C	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329160	0.60743	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.79749	-1.3;-1.3	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.91635	0.999;0.978	D	0.91156	0.4957	10	0.87932	D	0	-4.9841	14.6492	0.68784	0.0:0.0:0.0:1.0	.	254;302	O95970-3;O95970	.;LGI1_HUMAN	P	254;302	ENSP00000440763:L254P;ENSP00000360472:L302P	ENSP00000360472:L302P	L	+	2	0	LGI1	95546781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.039000	0.60335	0.533000	0.62120	CTG		0.393	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		41	73	0	0	0	1	0	41	73					C	95556791	T	C	95556791	3	2	375	1	0	0	0	0	1	0	0	0	8751	1580	55	3	935	3	LGI1	10	95556791	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		95556791	39977956	23	34373											
SLC43A1	8501	broad.mit.edu	37	chr11	57259302	57259302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctccacaggaaagtgGgggagcagaggctcttgcgt	18	8	1	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:57259302G>A	ENST00000278426.3	-	9	1260	c.905C>T	c.(904-906)cCc>cTc	p.P302L	SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGGAAAGTGGGGGAGCAGAG	0.602											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(904-906)cCc>cTc		solute carrier family 43 (amino acid system L transporter), member 1							52	52	52					11																	57259302		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57259302G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.905C>T	11.37:g.57259302G>A	ENSP00000278426:p.Pro302Leu		OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L	p.P302L	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			9	1260	-			302						Missense_Mutation	SNP	ENST00000278426.3	37	c.905C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681711	0.68042	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.62364	0.03;0.03	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.75777	2.31	0.80722	D	1	D	0.54601	0.967	P	0.62014	0.897	T	0.70011	-0.4989	10	0.10636	T	0.68	-41.8212	18.4902	0.90844	0.0:0.0:1.0:0.0	.	302	O75387	LAT3_HUMAN	L	302	ENSP00000278426:P302L;ENSP00000435673:P302L	ENSP00000278426:P302L	P	-	2	0	SLC43A1	57015878	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	8.998000	0.93550	2.670000	0.90874	0.650000	0.86243	CCC		0.602	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		5	47	0	0	0	1	0	5	47					A	57259302	G	A	57259302	3	1	375	1	0	0	0	0	1	0	0	0	14632	1232	43	2	802	2	SLC43A1	11	57259302	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		57259302	77747214	24	34374											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189045	50189045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgacttgggtcagtgggGccaggtactaggggtgtgga	18	8	1	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:50189045G>A	ENST00000335999.6	-	8	2799	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	862	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGTCAGTGGGGCCAGGTACTA	0.637																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2596-2598)ggC>ggT		NCK-associated protein 5-like							74	79	78					12																	50189045		1940	4137	6077	SO:0001819	synonymous_variant	57701							g.chr12:50189045G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2598C>T	12.37:g.50189045G>A							p.G866G	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	2799	-			862			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2598C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456447	0.01071	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.08	3.23	0.37069	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50808	-0.8784	4	.	.	.	-9.2021	7.6762	0.28486	0.3313:0.0:0.6687:0.0	.	.	.	.	S	581	.	.	P	-	1	0	NCKAP5L	48475312	0.002000	0.14202	0.770000	0.31555	0.172000	0.22775	0.099000	0.15210	0.623000	0.30267	-0.254000	0.11334	CCC		0.637	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	93	0	0	0	1	0	4	93					A	50189045	G	A	50189045	2	1	375	1	0	0	0	0	0	0	0	1	10224	1190	42	2		2	NCKAP5L	12	50189045	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		50189045	83662850	25	34375											
CBX5	23468	broad.mit.edu	37	chr12	54651393	54651393	+	Frame_Shift_Del	DEL	T	T	-													acatactcctcctcatcctcTgaagaagaactgtcagctgt							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:54651393delT	ENST00000439541.2	-	2	167	c.42delA	c.(40-42)tcafs	p.S14fs	RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs|CBX5_ENST00000209875.4_Frame_Shift_Del_p.S14fs	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	14	Poly-Ser.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CCTCATCCTCTGAAGAAGAAC	0.502																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(40-42)tcfs		chromobox homolog 5							177	146	157					12																	54651393		2203	4300	6503	SO:0001589	frameshift_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54651393delT	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.42delA	12.37:g.54651393delT	ENSP00000401009:p.Ser14fs					CBX5_ENST00000439541.2_Frame_Shift_Del_p.S14fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs	p.S14fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			2	178	-			14			Poly-Ser.		B2R8T9	Frame_Shift_Del	DEL	ENST00000439541.2	37	c.42delA	CCDS8875.1																																																																																				0.502	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		40	81						40	81	---	---	---	---	-	54651393	T	-	54651393	7	5	375	1	0	1	0	1	0	0	0	0	2721	1567	55	0	549	0	CBX5	12	54651393	Frame_Shift_Del	DEL	T	TCGA-P5-A77W-01A-11D-A32B-08	4462348	54651393	79200502	26	34376											
IRAK3	11213	broad.mit.edu	37	chr12	66641820	66641820	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagttccatcccaggacTtaaggccctataaggtaaat	7	9	0	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:66641820T>G	ENST00000261233.4	+	12	2081	c.1660T>G	c.(1660-1662)Tta>Gta	p.L554V	IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V	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)		ATCCCAGGACTTAAGGCCCTA	0.458																																						ENST00000261233.4																			0				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						c.(1660-1662)Tta>Gta		interleukin-1 receptor-associated kinase 3							116	126	122					12																	66641820		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641820T>G	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.1660T>G	12.37:g.66641820T>G	ENSP00000261233:p.Leu554Val					IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V	p.L554V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	2081	+			554						Missense_Mutation	SNP	ENST00000261233.4	37	c.1660T>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	9.647	1.140450	0.21205	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.72942	-0.66;-0.7	5.67	-5.55	0.02536	.	2.531860	0.01265	N	0.009281	T	0.47893	0.1470	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20306	-1.0279	9	.	.	.	11.3595	1.0932	0.01668	0.2455:0.1432:0.3497:0.2616	.	493;554	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	V	554;493	ENSP00000261233:L554V;ENSP00000409852:L493V	.	L	+	1	2	IRAK3	64928087	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	-0.234000	0.09028	-1.350000	0.02199	-1.288000	0.01363	TTA		0.458	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			57	81	0	0	0	1	0	57	81					G	66641820	T	G	66641820	3	3	375	1	0	0	0	0	1	0	0	0	7824	1606	56	5	1706	5	IRAK3	12	66641820	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	11990427	66641820	67210075	27	34377											
NAA16	79612	broad.mit.edu	37	chr13	41943360	41943362	+	In_Frame_Del	DEL	GAA	GAA	-													atcaaaagaaaaaaagagatGaagaagaagaagaagccagt							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:41943360_41943362delGAA	ENST00000379406.3	+	15	2212_2214	c.1888_1890delGAA	c.(1888-1890)gaadel	p.E634del	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	634					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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.E630D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aaaaagagatgaagaagaagaag	0.345																																						ENST00000379406.3																			1	Substitution - Missense(1)	p.E630D(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1888-1890)del		N(alpha)-acetyltransferase 16, NatA auxiliary subunit																																				SO:0001651	inframe_deletion	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41943360_41943362delGAA	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1888_1890delGAA	13.37:g.41943369_41943371delGAA	ENSP00000368716:p.Glu634del					NAA16_ENST00000497143.1_3'UTR	p.E634del	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			15	2212_2214	+			634					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	In_Frame_Del	DEL	ENST00000379406.3	37	c.1888_1890delGAA	CCDS9379.1																																																																																				0.345	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		17	49						17	49	---	---	---	---	-	41943362	GAA	-	41943360	7	5	375	1	0	1	0	1	0	0	0	0	10119	1291	45	0	1979	0	NAA16	13	41943360	In_Frame_Del	DEL	GAA	TCGA-P5-A77W-01A-11D-A32B-08		41943360	73226518	28	34378											
ZC3H13	23091	broad.mit.edu	37	chr13	46543102	46543102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggttactccgattgctccCgaggctgctgctcctctttt	9	14	1	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:46543102C>T	ENST00000242848.4	-	14	3925	c.3577G>A	c.(3577-3579)Ggg>Agg	p.G1193R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1193	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G1193W(1)		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)		CGATTGCTCCCGAGGCTGCTG	0.507																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Missense(1)	p.G1193W(1)	lung(1)	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						c.(3577-3579)Ggg>Agg		zinc finger CCCH-type containing 13							174	166	169					13																	46543102		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543102C>T	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.3577G>A	13.37:g.46543102C>T	ENSP00000242848:p.Gly1193Arg					ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R	p.G1193R			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3925	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1193			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3577G>A		.	.	.	.	.	.	.	.	.	.	C	15.16	2.751165	0.49257	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.41065	2.03;2.01;1.01	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	T	0.49575	0.1565	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	P;P	0.62649	0.806;0.905	T	0.49390	-0.8945	10	0.87932	D	0	.	13.5052	0.61479	0.2721:0.7279:0.0:0.0	.	1193;1193	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	R	1193;149;1193	ENSP00000242848:G1193R;ENSP00000368201:G149R;ENSP00000282007:G1193R	ENSP00000242848:G1193R	G	-	1	0	ZC3H13	45441103	0.981000	0.34729	0.950000	0.38849	0.978000	0.69477	2.745000	0.47459	2.826000	0.97356	0.655000	0.94253	GGG		0.507	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	184	0	0	0	1	0	7	184					T	46543102	C	T	46543102	3	4	375	1	0	0	0	0	1	0	0	0	17562	652	23	1	1133	1	ZC3H13	13	46543102	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	4599742	46543102	68626776	29	34379											
OR10G2	26534	broad.mit.edu	37	chr14	22102600	22102600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcactgggtagtgcaggggCtgacatattgctaggtacct	14	8	0	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:22102600C>A	ENST00000542433.1	-	1	496	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	133						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(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGCAGGGGCTGACATATTG	0.552																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(397-399)caG>caT		olfactory receptor, family 10, subfamily G, member 2							36	43	41					14																	22102600		2195	4285	6480	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102600C>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.399G>T	14.37:g.22102600C>A	ENSP00000445383:p.Gln133His						p.Q133H	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	496	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	133					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.399G>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	C	1.872	-0.459972	0.04508	.	.	ENSG00000255582	ENST00000542433	T	0.00554	6.64	3.78	-0.685	0.11328	GPCR, rhodopsin-like superfamily (1);	0.659654	0.12381	N	0.473938	T	0.00271	0.0008	N	0.02985	-0.445	0.25837	N	0.984109	B	0.02656	0.0	B	0.04013	0.001	T	0.41592	-0.9500	10	0.66056	D	0.02	-2.4725	3.6245	0.08108	0.0:0.3407:0.1992:0.4601	.	133	Q8NGC3	O10G2_HUMAN	H	133	ENSP00000445383:Q133H	ENSP00000445383:Q133H	Q	-	3	2	OR10G2	21172440	0.000000	0.05858	0.984000	0.44739	0.824000	0.46624	-2.281000	0.01157	-0.010000	0.14271	-0.226000	0.12346	CAG		0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			16	7	1	0	2.23348e-06	1	2.43202e-06	16	7					A	22102600	C	A	22102600	3	1	375	1	0	0	0	0	1	0	0	0	10899	796	28	4	536	4	OR10G2	14	22102600	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		22102600	85246940	30	34380											
C14orf105	55195	broad.mit.edu	37	chr14	57947418	57947418	+	Missense_Mutation	SNP	T	T	A													ggctttatggtcccttggacTttgcttattaattcttgcct							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947418T>A	ENST00000216445.3	-	5	686	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	184										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCCTTGGACTTTGCTTATTA	0.403																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(550-552)Agt>Tgt		chromosome 14 open reading frame 105							246	236	240					14																	57947418		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57947418T>A	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.550A>T	14.37:g.57947418T>A	ENSP00000216445:p.Ser184Cys					C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C	p.S184C	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			5	686	-			184					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.550A>T	CCDS9730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.733592|2.733592	0.48939|0.48939	.|.	.|.	ENSG00000100557|ENSG00000100557	ENST00000524996|ENST00000216445;ENST00000422976;ENST00000534126	.|T;T;T	.|0.45668	.|0.89;0.89;0.89	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.769944	.|0.11904	.|N	.|0.518337	T|T	0.38081|0.38081	0.1027|0.1027	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.49447	.|0.876;0.924;0.867;0.867;0.867	.|P;P;B;B;B	.|0.46452	.|0.517;0.517;0.42;0.42;0.42	T|T	0.22034|0.22034	-1.0228|-1.0228	5|10	.|0.87932	.|D	.|0	-3.4032|-3.4032	12.3497|12.3497	0.55141|0.55141	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|183;183;183;183;184	.|B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.|.;.;.;.;CN105_HUMAN	N|C	29|184;183;183	.|ENSP00000216445:S184C;ENSP00000392368:S183C;ENSP00000434003:S183C	.|ENSP00000216445:S184C	K|S	-|-	3|1	2|0	C14orf105|C14orf105	57017171|57017171	1.000000|1.000000	0.71417|0.71417	0.837000|0.837000	0.33122|0.33122	0.084000|0.084000	0.17831|0.17831	3.974000|3.974000	0.56852|0.56852	2.235000|2.235000	0.73313|0.73313	0.529000|0.529000	0.55759|0.55759	AAA|AGT		0.403	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		10	74	0	0	0	1	0	10	74					A	57947418	T	A	57947418	3	1	375	1	0	0	0	0	1	0	0	0	1737	1609	56	5	348	5	C14orf105	14	57947418	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	35844818	57947418	49402122	31	34381	151	2									
C14orf105	55195	broad.mit.edu	37	chr14	57947420	57947420	+	Missense_Mutation	SNP	T	T	G													ctttatggtcccttggacttTgcttattaattcttgcctct							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947420T>G	ENST00000216445.3	-	5	684	c.548A>C	c.(547-549)cAa>cCa	p.Q183P	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	183										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTTGGACTTTGCTTATTAAT	0.393																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(547-549)cAa>cCa		chromosome 14 open reading frame 105							243	234	237					14																	57947420		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57947420T>G	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.548A>C	14.37:g.57947420T>G	ENSP00000216445:p.Gln183Pro					C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P	p.Q183P	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			5	684	-			183					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.548A>C	CCDS9730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.477335|2.477335	0.44044|0.44044	.|.	.|.	ENSG00000100557|ENSG00000100557	ENST00000524996|ENST00000216445;ENST00000422976;ENST00000534126	.|T;T;T	.|0.53857	.|0.6;0.6;0.6	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.106098	.|0.41712	.|D	.|0.000833	T|T	0.67748|0.67748	0.2926|0.2926	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.69078	.|0.982;0.997;0.994;0.997;0.997	.|P;D;P;D;D	.|0.63793	.|0.802;0.918;0.857;0.918;0.918	T|T	0.71126|0.71126	-0.4683|-0.4683	5|10	.|0.72032	.|D	.|0.01	-9.2538|-9.2538	12.6343|12.6343	0.56675|0.56675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|182;182;182;182;183	.|B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.|.;.;.;.;CN105_HUMAN	Q|P	29|183;182;182	.|ENSP00000216445:Q183P;ENSP00000392368:Q182P;ENSP00000434003:Q182P	.|ENSP00000216445:Q183P	K|Q	-|-	1|2	0|0	C14orf105|C14orf105	57017173|57017173	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.100000|0.100000	0.18952|0.18952	2.551000|2.551000	0.45820|0.45820	2.235000|2.235000	0.73313|0.73313	0.529000|0.529000	0.55759|0.55759	AAA|CAA		0.393	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		10	73	0	0	0	1	0	10	73					G	57947420	T	G	57947420	3	3	375	1	0	0	0	0	1	0	0	0	1737	1812	63	5	350	5	C14orf105	14	57947420	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	2	57947420	49402120	32	34382	151	2									
MAP3K14	100133991	broad.mit.edu	37	chr17	43344891	43344893	+	RNA	DEL	CTC	CTC	-													aagggttcccacatcccagaCtcctccttgctcaaagtcaa							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr17:43344891_43344893delCTC	ENST00000585780.1	+	0	1940_1942				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA					MAP3K14 antisense RNA 1																		ACATCCCAGACTCCTCCTTGCTC	0.611																																						ENST00000344686.2																			0				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								mitogen-activated protein kinase kinase kinase 14																																						9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43344891_43344893delCTC	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.43344894_43344896delCTC						MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA				Q99558	M3K14_HUMAN			0	2311_2313	-									RNA	DEL	ENST00000585780.1	37																																																																																						0.611	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		7	10						7	10	---	---	---	---	-	43344893	CTC	-	43344891	6	5	375	0	1	1	0	1	0	0	0	0	9248	564	20	0		0	MAP3K14	17	43344891	RNA	DEL	CTC	TCGA-P5-A77W-01A-11D-A32B-08		43344891	37850319	33	34383											
KRI1	65095	broad.mit.edu	37	chr19	10672385	10672385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccacataactttgcgacGatgtctcctgcagagagggc	10	13	1	1	rs559715411		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:10672385G>A	ENST00000312962.6	-	6	483	c.464C>T	c.(463-465)tCg>tTg	p.S155L	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Missense_Mutation_p.S151L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	149	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTTTGCGACGATGTCTCCTG	0.607																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(463-465)tCg>tTg		KRI1 homolog (S. cerevisiae)							144	140	141					19																	10672385		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10672385G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.464C>T	19.37:g.10672385G>A	ENSP00000320917:p.Ser155Leu					KRI1_ENST00000361821.5_Missense_Mutation_p.S151L|KRI1_ENST00000537964.1_5'UTR	p.S155L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	483	-			155			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.464C>T	CCDS12242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.441|9.441	1.088180|1.088180	0.20390|0.20390	.|.	.|.	ENSG00000129347|ENSG00000129347	ENST00000543682|ENST00000312962;ENST00000361821;ENST00000541101	.|T;T	.|0.33216	.|1.42;1.42	3.7|3.7	-2.92|-2.92	0.05615|0.05615	.|.	.|0.602267	.|0.16491	.|N	.|0.212117	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12630	.|0.002;0.006	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.18777|0.18777	-1.0326|-1.0326	5|10	.|0.27785	.|T	.|0.31	-2.2623|-2.2623	5.3562|5.3562	0.16063|0.16063	0.3106:0.4453:0.2441:0.0|0.3106:0.4453:0.2441:0.0	.|.	.|155;151	.|Q8N9T8;D3YTE0	.|KRI1_HUMAN;.	C|L	93|155;151;155	.|ENSP00000320917:S155L;ENSP00000355366:S151L	.|ENSP00000320917:S155L	R|S	-|-	1|2	0|0	KRI1|KRI1	10533385|10533385	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.792000|0.792000	0.26929|0.26929	-0.406000|-0.406000	0.07588|0.07588	-0.448000|-0.448000	0.05591|0.05591	CGT|TCG		0.607	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	140	0	0	0	1	0	6	140					A	10672385	G	A	10672385	3	1	375	1	0	0	0	0	1	0	0	0	8444	1059	37	1	1721	1	KRI1	19	10672385	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		10672385	48456598	34	34384											
PLVAP	83483	broad.mit.edu	37	chr19	17488042	17488042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtaataccagcagcccCgagagctgccccccgcccga	11	18	0	1	rs376999423		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:17488042C>T	ENST00000252590.4	-	1	117	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	19					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						CCAGCAGCCCCGAGAGCTGCC	0.622																																						ENST00000252590.4																			0				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						c.(55-57)cGg>cAg		plasmalemma vesicle associated protein		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77	80	79		56	0.7	0	19		79	0,8600		0,0,4300	no	missense	PLVAP	NM_031310.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	19/443	17488042	1,13005	2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17488042C>T	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.56G>A	19.37:g.17488042C>T	ENSP00000252590:p.Arg19Gln						p.R19Q	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	117	-			19					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.56G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630930	0.46944	2.27E-4	0.0	ENSG00000130300	ENST00000252590	.	.	.	4.06	0.709	0.18150	.	0.170778	0.38326	N	0.001726	T	0.28599	0.0708	L	0.29908	0.895	0.09310	N	1	D	0.55800	0.973	P	0.49192	0.602	T	0.12344	-1.0551	9	0.59425	D	0.04	-30.2018	6.2814	0.21009	0.0:0.6728:0.0:0.3272	.	19	Q9BX97	PLVAP_HUMAN	Q	19	.	ENSP00000252590:R19Q	R	-	2	0	PLVAP	17349042	.	.	0.006000	0.13384	0.102000	0.19082	.	.	0.137000	0.18759	-0.424000	0.05967	CGG		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		44	76	0	0	0	1	0	44	76					T	17488042	C	T	17488042	3	4	375	1	0	0	0	0	1	0	0	0	12116	652	23	1	1296	1	PLVAP	19	17488042	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	6815657	17488042	41640941	35	34385											
CIC	23152	broad.mit.edu	37	chr19	42795197	42795198	+	Frame_Shift_Del	DEL	TG	TG	-													gtggggaaggcgcctgccacTgtcactaacctactggtggg							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:42795197_42795198delTG	ENST00000575354.2	+	10	2317_2318	c.2277_2278delTG	c.(2275-2280)actgtcfs	p.V760fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1669fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V760fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	760	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)				CGCCTGCCACTGTCACTAACCT	0.668			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5002-5007)actcfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795197_42795198delTG	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.2277_2278delTG	19.37:g.42795197_42795198delTG	ENSP00000458663:p.Val760fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TV759fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV759fs	p.TV1668fs			Q96RK0	CIC_HUMAN			11	5072_5073	+		Prostate(69;0.00682)	759					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5004_5005delTG	CCDS12601.1																																																																																				0.668	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	17						17	17	---	---	---	---	-	42795198	TG	-	42795197	7	5	375	1	0	1	0	1	0	0	0	0	3424	1567	55	0	2315	0	CIC	19	42795197	Frame_Shift_Del	DEL	TG	TCGA-P5-A77W-01A-11D-A32B-08	25307155	42795197	16333786	36	34386											
PKDREJ	10343	broad.mit.edu	37	chr22	46652877	46652877	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagttactgtagttccattCatgctgaccaaacaccaggt	7	11	1	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:46652877C>A	ENST00000253255.5	-	1	6342	c.6343G>T	c.(6343-6345)Gaa>Taa	p.E2115*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2115					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6343-6345)Gaa>Taa		polycystin (PKD) family receptor for egg jelly							58	57	57					22																	46652877		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652877C>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6343G>T	22.37:g.46652877C>A	ENSP00000253255:p.Glu2115*						p.E2115*	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6342	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2115					B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.6343G>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	43	10.083864	0.99332	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.56	4.49	0.54785	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-32.4893	14.2893	0.66265	0.0:0.8518:0.1482:0.0	.	.	.	.	X	2115	.	ENSP00000253255:E2115X	E	-	1	0	PKDREJ	45031541	0.992000	0.36948	0.307000	0.25127	0.184000	0.23303	3.288000	0.51739	2.792000	0.96026	0.557000	0.71058	GAA		0.443	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		3	33	1	0	1	1	1	3	33					A	46652877	C	A	46652877	4	1	375	1	0	0	0	0	0	1	0	0	11970	835	29	4	422	4	PKDREJ	22	46652877	Nonsense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		46652877	4651689	37	34387											
TTLL8	164714	broad.mit.edu	37	chr22	50484310	50484310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcctgctgctcactctcGgtgcagaggctgtagcagcg	12	13	2	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:50484310G>A	ENST00000266182.6	-	5	482	c.483C>T	c.(481-483)acC>acT	p.T161T	TTLL8_ENST00000440475.1_Silent_p.T161T|TTLL8_ENST00000477219.1_5'Flank			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	197					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)		GCTCACTCTCGGTGCAGAGGC	0.617																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(481-483)acC>acT		tubulin tyrosine ligase-like family, member 8							34	38	36					22																	50484310		2057	4195	6252	SO:0001819	synonymous_variant	164714							g.chr22:50484310G>A			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.483C>T	22.37:g.50484310G>A						TTLL8_ENST00000440475.1_Silent_p.T161T	p.T161T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	5	482	-		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)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.483C>T																																																																																					0.617	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		4	9	0	0	0	1	0	4	9					A	50484310	G	A	50484310	2	1	375	1	0	0	0	0	0	0	0	1	16730	1103	39	1		1	TTLL8	22	50484310	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	3831433	50484310	820256	38	34388											
PHKA2	5256	broad.mit.edu	37	chrX	18936876	18936876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatagcactgaagacatggCggtcttctgtgttcttacaa	11	8	3	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:18936876C>T	ENST00000379942.4	-	19	2725	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	687					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)					GAAGACATGGCGGTCTTCTGT	0.448																																						ENST00000379942.4																			0				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						c.(2059-2061)cGc>cAc		phosphorylase kinase, alpha 2 (liver)							129	107	114					X																	18936876		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18936876C>T		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.2060G>A	X.37:g.18936876C>T	ENSP00000369274:p.Arg687His						p.R687H	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			19	2725	-	Hepatocellular(33;0.183)		687					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2060G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	c	7.861	0.726148	0.15439	.	.	ENSG00000044446	ENST00000379942	D	0.90732	-2.72	5.72	-2.17	0.07059	Glycoside hydrolase 15-related (1);	0.772488	0.13428	N	0.388665	T	0.63593	0.2524	N	0.00677	-1.265	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.60984	-0.7154	10	0.14656	T	0.56	1.9877	2.9443	0.05841	0.1026:0.1619:0.3735:0.362	.	687	P46019	KPB2_HUMAN	H	687	ENSP00000369274:R687H	ENSP00000369274:R687H	R	-	2	0	PHKA2	18846797	0.959000	0.32827	0.047000	0.18901	0.207000	0.24258	0.403000	0.20982	-0.727000	0.04888	0.597000	0.82753	CGC		0.448	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		43	76	0	0	0	1	0	43	76					T	18936876	C	T	18936876	3	4	375	1	0	0	0	0	1	0	0	0	11844	768	27	1	1707	1	PHKA2	23	18936876	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		18936876	136333684	39	34389											
CXorf38	159013	broad.mit.edu	37	chrX	40495933	40495933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcgctgatcttcctcgGggatgtgaacagcccagtca	10	13	3	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:40495933G>A	ENST00000327877.5	-	5	679	c.653C>T	c.(652-654)cCc>cTc	p.P218L	CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L|CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L|CXorf38_ENST00000378426.1_Missense_Mutation_p.P99L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	218										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATCTTCCTCGGGGATGTGAAC	0.423																																						ENST00000378426.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(295-297)cCc>cTc		chromosome X open reading frame 38							69	56	60					X																	40495933		2203	4300	6503	SO:0001583	missense	159013							g.chrX:40495933G>A	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.653C>T	X.37:g.40495933G>A	ENSP00000330488:p.Pro218Leu					CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L|CXorf38_ENST00000327877.5_Missense_Mutation_p.P218L|CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L	p.P99L			Q8TB03	CX038_HUMAN			4	893	-			218					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.296C>T	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431199	0.62844	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.86	5.0	0.66597	.	0.296424	0.32785	N	0.005642	T	0.54631	0.1870	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.64410	0.787;0.925	T	0.56062	-0.8041	10	0.59425	D	0.04	-9.1175	8.0209	0.30408	0.0821:0.0:0.757:0.1609	.	133;218	E7EN46;Q8TB03	.;CX038_HUMAN	L	99;218;99;133	ENSP00000367683:P99L;ENSP00000330488:P218L;ENSP00000367677:P99L;ENSP00000400019:P133L	ENSP00000330488:P218L	P	-	2	0	CXorf38	40380877	0.996000	0.38824	0.063000	0.19743	0.861000	0.49209	3.256000	0.51492	1.221000	0.43506	0.600000	0.82982	CCC		0.423	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		9	13	0	0	0	1	0	9	13					A	40495933	G	A	40495933	3	1	375	1	0	0	0	0	1	0	0	0	4107	1232	43	2	314	2	CXorf38	23	40495933	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	21559057	40495933	114774627	40	34390											
ARMCX2	9823	broad.mit.edu	37	chrX	100910841	100910844	+	Frame_Shift_Del	DEL	ATAG	ATAG	-													acttctgctctgagattgtcAtagataatctcaaatagagt							TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:100910841_100910844delATAG	ENST00000328766.5	-	5	2184_2187	c.1731_1734delCTAT	c.(1729-1734)atctatfs	p.IY577fs	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	577						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGAGATTGTCATAGATAATCTCAA	0.348																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1729-1734)atfs		armadillo repeat containing, X-linked 2																																				SO:0001589	frameshift_variant	9823					integral to membrane	binding	g.chrX:100910841_100910844delATAG	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1731_1734delCTAT	X.37:g.100910841_100910844delATAG	ENSP00000331662:p.Ile577fs					ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs	p.IY577fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	2184_2187	-			577					O60267|Q5H9D9	Frame_Shift_Del	DEL	ENST00000328766.5	37	c.1731_1734delCTAT	CCDS14490.1																																																																																				0.348	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		9	108						9	108	---	---	---	---	-	100910844	ATAG	-	100910841	7	5	375	1	0	1	0	1	0	0	0	0	960	224	8	0	168	0	ARMCX2	23	100910841	Frame_Shift_Del	DEL	ATAG	TCGA-P5-A77W-01A-11D-A32B-08	60414908	100910841	54359719	41	34391											
DOCK11	139818	broad.mit.edu	37	chrX	117744241	117744241	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttcatttcagcttcccCgaggccagagatttcccgag	8	13	2	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:117744241C>T	ENST00000276202.7	+	28	3019	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.R986*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	986					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						TCAGCTTCCCCGAGGCCAGAG	0.383																																						ENST00000276204.6																			0				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						c.(2956-2958)Cga>Tga		dedicator of cytokinesis 11							120	99	106					X																	117744241		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117744241C>T	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.2956C>T	X.37:g.117744241C>T	ENSP00000276202:p.Arg986*					DOCK11_ENST00000276202.7_Nonsense_Mutation_p.R986*	p.R986*			Q5JSL3	DOC11_HUMAN			28	3030	+			986					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.2956C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	42	9.272358	0.99122	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.34	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2966	10.7643	0.46283	0.6585:0.3415:0.0:0.0	.	.	.	.	X	986	.	ENSP00000276202:R986X	R	+	1	2	DOCK11	117628269	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.846000	0.39289	0.821000	0.34540	0.594000	0.82650	CGA		0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		35	49	0	0	0	1	0	35	49					T	117744241	C	T	117744241	4	4	375	1	0	0	0	0	0	1	0	0	4686	644	23	1	3066	1	DOCK11	23	117744241	Nonsense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	16833400	117744241	37526319	42	34392											
BGN	633	broad.mit.edu	37	chrX	152773797	152773797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgggcctactacaacgGcatcagcctcttcaacaacc	8	15	3	0			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:152773797G>A	ENST00000331595.4	+	8	1187	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	334					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|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)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTACAACGGCATCAGCCTC	0.577																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(1000-1002)gGc>gAc		biglycan							144	117	126					X																	152773797		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152773797G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.1001G>A	X.37:g.152773797G>A	ENSP00000327336:p.Gly334Asp					BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.G273D	p.G334D	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			8	1187	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		334					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.1001G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.034367	0.75617	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.04360	3.64;3.64	4.94	4.07	0.47477	.	0.117399	0.64402	N	0.000020	T	0.12263	0.0298	M	0.72118	2.19	0.54753	D	0.999985	D	0.61697	0.99	P	0.51453	0.67	T	0.01235	-1.1410	10	0.54805	T	0.06	-24.7106	11.9221	0.52797	0.0896:0.0:0.9104:0.0	.	334	P21810	PGS1_HUMAN	D	334;273;273	ENSP00000327336:G334D;ENSP00000359223:G273D	ENSP00000327336:G334D	G	+	2	0	BGN	152426991	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	2.991000	0.49409	1.002000	0.39104	-0.362000	0.07510	GGC		0.577	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		4	173	0	0	0	1	0	4	173					A	152773797	G	A	152773797	3	1	375	1	0	0	0	0	1	0	0	0	1418	1203	42	2	1027	2	BGN	23	152773797	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	35029556	152773797	2496763	43	34393											
FUBP1	8880	broad.mit.edu	37	chr1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-													cagtttaaaaggaatacttaCagtcattttgaggagcaact							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:78433848_78433851delCAGT	ENST00000370768.2	-	3	329_332	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs|FUBP1_ENST00000370767.1_Splice_Site_p.DC83fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		1	Unknown(1)	p.?(1)	central_nervous_system(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e3+1		far upstream element (FUSE) binding protein 1																																				SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78433848_78433851delCAGT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.250+1ACTG>-	1.37:g.78433848_78433851delCAGT						FUBP1_ENST00000370768.2_Splice_Site_p.83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.104_splice	p.83_splice			Q96AE4	FUBP1_HUMAN			3	335_338	-			83					Q12828	Splice_Site	DEL	ENST00000370768.2	37	c.250_splice	CCDS683.1																																																																																				0.319	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Frame_Shift_Del	16	16						16	16	---	---	---	---	-	78433851	CAGT	-	78433848	8	5	376	1	0	1	0	1	0	0	1	0	6092	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-P5-A77X-01A-11D-A32B-08		78433848	170816773	1	34394											
ODF2L	57489	broad.mit.edu	37	chr1	86826179	86826179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaattctgagagttcatttTcaacagatacaacttcatcc	5	10	4	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:86826179T>C	ENST00000359242.3	-	12	1465	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G|ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	395						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GAGTTCATTTTCAACAGATAC	0.303																																						ENST00000359242.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1183-1185)gAa>gGa		outer dense fiber of sperm tails 2-like							91	96	94					1																	86826179		2201	4292	6493	SO:0001583	missense	57489					centrosome		g.chr1:86826179T>C		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1184A>G	1.37:g.86826179T>C	ENSP00000359600:p.Glu395Gly					ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000524695.1_5'UTR	p.E395G	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1465	-			395					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.1184A>G	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.227840|4.227840	0.79576|0.79576	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890|ENST00000459999	T;T;D;T;T;T;D;T|.	0.81739|.	1.66;1.64;-1.53;1.66;1.71;1.73;-1.53;1.25|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.206630|.	0.49916|.	D|.	0.000133|.	T|T	0.62319|0.62319	0.2418|0.2418	M|M	0.64997|0.64997	1.995|1.995	0.47862|0.47862	D|D	0.999531|0.999531	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|.	0.91635|.	0.998;0.997;0.994;0.976;0.997;0.999|.	T|T	0.63616|0.63616	-0.6597|-0.6597	10|5	0.54805|.	T|.	0.06|.	-17.7511|-17.7511	13.6468|13.6468	0.62286|0.62286	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	366;366;395;366;366;395|.	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;.;ODF2L_HUMAN|.	G|E	366;366;395;242;395;366;235;366;196|215	ENSP00000359597:E366G;ENSP00000359600:E395G;ENSP00000433092:E242G;ENSP00000320165:E395G;ENSP00000359598:E366G;ENSP00000378219:E235G;ENSP00000294678:E366G;ENSP00000432834:E196G|.	ENSP00000294678:E366G|.	E|K	-|-	2|1	0|0	ODF2L|ODF2L	86598767|86598767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.022000|5.022000	0.64078|0.64078	2.247000|2.247000	0.74100|0.74100	0.477000|0.477000	0.44152|0.44152	GAA|AAA		0.303	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			13	16	0	0	0	1	0	13	16					C	86826179	T	C	86826179	3	2	376	1	0	0	0	0	1	0	0	0	10828	1783	62	3	930	3	ODF2L	1	86826179	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	8392331	86826179	162424442	2	34395											
CFHR5	81494	broad.mit.edu	37	chr1	196973838	196973838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catctattaacaatggagatAccacctcattcccattatca	3	12	3	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:196973838A>G	ENST00000256785.4	+	9	1487	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A	CFHR5_ENST00000367414.5_Missense_Mutation_p.T484A			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	460	Sushi 8. {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						CAATGGAGATACCACCTCATT	0.408																																						ENST00000367414.5																			0				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						c.(1450-1452)Acc>Gcc		complement factor H-related 5							141	137	138					1																	196973838		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196973838A>G	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.1378A>G	1.37:g.196973838A>G	ENSP00000256785:p.Thr460Ala					CFHR5_ENST00000256785.4_Missense_Mutation_p.T460A	p.T484A	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			9	1506	+			460			Sushi 8.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1450A>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953369	0.34471	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65732	-0.17;-0.17	3.69	1.12	0.20585	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.38719	0.1051	N	0.17345	0.48	0.21184	N	0.999764	B	0.16396	0.017	B	0.22601	0.04	T	0.22800	-1.0206	9	0.16420	T	0.52	.	3.8189	0.08827	0.6564:0.2187:0.1249:0.0	.	460	Q9BXR6	FHR5_HUMAN	A	484;460	ENSP00000356384:T484A;ENSP00000256785:T460A	ENSP00000256785:T460A	T	+	1	0	CFHR5	195240461	0.001000	0.12720	0.070000	0.20053	0.288000	0.27193	0.884000	0.28214	-0.014000	0.14175	0.402000	0.26972	ACC		0.408	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		35	63	0	0	0	1	0	35	63					G	196973838	A	G	196973838	3	3	376	1	0	0	0	0	1	0	0	0	3288	391	14	3	1412	3	CFHR5	1	196973838	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	110147659	196973838	52276783	3	34396											
OR2M3	127062	broad.mit.edu	37	chr1	248366669	248366669	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggctggttgtgccacacaAattttcttctatacatcact	6	10	3	0	rs200425194		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:248366669A>G	ENST00000456743.1	+	1	338	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	100						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)			GTGCCACACAAATTTTCTTCT	0.488																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(298-300)caA>caG		olfactory receptor, family 2, subfamily M, member 3							265	269	268					1																	248366669		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366669A>G		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.300A>G	1.37:g.248366669A>G							p.Q100Q	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	338	+	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)		100					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.300A>G	CCDS31107.1																																																																																				0.488	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		35	290	0	0	0	1	0	35	290					G	248366669	A	G	248366669	2	3	376	1	0	0	0	0	0	0	0	1	11011	11	1	3		3	OR2M3	1	248366669	Silent	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	51392831	248366669	883952	4	34397											
SLC30A6	55676	broad.mit.edu	37	chr2	32445757	32445757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtagatatggaactaataAtagaattggacaaccaagac	8	5	0	3			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:32445757A>G	ENST00000282587.5	+	14	1398	c.1361A>G	c.(1360-1362)aAt>aGt	p.N454S	SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	454				N -> S (in Ref. 5; AAH66903). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAACTAATAATAGAATTGGA	0.353																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)aAt>aGt		solute carrier family 30 (zinc transporter), member 6							40	42	41					2																	32445757		2177	4289	6466	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32445757A>G	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1361A>G	2.37:g.32445757A>G	ENSP00000282587:p.Asn454Ser					SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S	p.N454S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			14	1398	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		454	N -> S (in Ref. 4; AAH66903).				A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.1361A>G	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	A	7.134	0.580478	0.13686	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.77098	-1.07;-1.06	5.58	-2.19	0.07015	.	0.470245	0.22591	N	0.058090	T	0.53610	0.1807	N	0.19112	0.55	0.24605	N	0.99375	B;B;B;B	0.16396	0.01;0.017;0.001;0.01	B;B;B;B	0.14578	0.005;0.011;0.003;0.005	T	0.39272	-0.9622	10	0.11182	T	0.66	-9.1899	7.3477	0.26672	0.3359:0.2588:0.4054:0.0	.	425;431;494;454	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	S	494;454;431;425;257;380	ENSP00000282587:N454S;ENSP00000440678:N425S	ENSP00000282587:N454S	N	+	2	0	SLC30A6	32299261	0.917000	0.31117	0.742000	0.31022	0.868000	0.49771	0.144000	0.16135	-0.023000	0.13963	-0.462000	0.05337	AAT		0.353	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			5	48	0	0	0	1	0	5	48					G	32445757	A	G	32445757	3	3	376	1	0	0	0	0	1	0	0	0	14559	101	4	3	1415	3	SLC30A6	2	32445757	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		32445757	210753616	5	34398											
LRP2	4036	broad.mit.edu	37	chr2	170027173	170027173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctctctgtgcactcccgGggagctggaaaggaaaggca	14	11	1	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:170027173G>A	ENST00000263816.3	-	59	11553	c.11268C>T	c.(11266-11268)ccC>ccT	p.P3756P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3756	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	TGCACTCCCGGGGAGCTGGAA	0.552																																						ENST00000263816.3																			0				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						c.(11266-11268)ccC>ccT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						107	93	98					2																	170027173		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170027173G>A		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.11268C>T	2.37:g.170027173G>A							p.P3756P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	59	11553	-			3756			LDL-receptor class A 31.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11268C>T	CCDS2232.1																																																																																				0.552	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		29	38	0	0	0	1	0	29	38					A	170027173	G	A	170027173	2	1	376	1	0	0	0	0	0	0	0	1	8956	1219	43	2		2	LRP2	2	170027173	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	137581416	170027173	73172200	6	34399											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	37	0	0	0	1	0	17	37					T	209113112	C	T	209113112	3	4	376	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	39085939	209113112	34086261	7	34400											
EXOG	9941	broad.mit.edu	37	chr3	38548446	38548449	+	Frame_Shift_Del	DEL	TAGT	TAGT	-													tagaggcgatggaaagaaaaTagttagttaccaggtaagga							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:38548446_38548449delTAGT	ENST00000287675.5	+	5	728_731	c.632_635delTAGT	c.(631-636)atagttfs	p.IV211fs	Y_RNA_ENST00000384781.1_RNA|EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	211					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGAAAGAAAATAGTTAGTTACCAG	0.353																																						ENST00000287675.5																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						c.(631-636)atfs		endo/exonuclease (5'-3'), endonuclease G-like																																				SO:0001589	frameshift_variant	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38548446_38548449delTAGT	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"endonuclease G-like 1", "endonuclease G-like 2"	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.632_635delTAGT	3.37:g.38548450_38548453delTAGT	ENSP00000287675:p.Ile211fs					EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs	p.IV211fs	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN			5	728_731	+			211					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Frame_Shift_Del	DEL	ENST00000287675.5	37	c.632_635delTAGT	CCDS2680.1																																																																																				0.353	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		11	46						11	46	---	---	---	---	-	38548449	TAGT	-	38548446	7	5	376	1	0	1	0	1	0	0	0	0	5312	1406	49	0	650	0	EXOG	3	38548446	Frame_Shift_Del	DEL	TAGT	TCGA-P5-A77X-01A-11D-A32B-08		38548446	159473984	8	34401											
UPK1B	7348	broad.mit.edu	37	chr3	118909856	118909856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctcttcctgaagcagAtgctagagaggtaccaaaac	8	12	1	3	rs147312682		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:118909856A>G	ENST00000264234.3	+	5	522	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V|UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	125					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CCTGAAGCAGATGCTAGAGAG	0.453																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(373-375)Atg>Gtg		uroplakin 1B							336	344	341					3																	118909856		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118909856A>G	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"Tetraspanins"	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.373A>G	3.37:g.118909856A>G	ENSP00000264234:p.Met125Val					UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V|UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V	p.M125V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	5	522	+			125					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.373A>G	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997769	0.74818	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	D;D;D;D;T	0.85484	-1.99;-1.99;-1.99;-1.99;-1.18	5.55	5.55	0.83447	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.69823	2.125	0.44073	D	0.996829	D;D	0.76494	0.999;0.979	D;D	0.79108	0.992;0.982	D	0.88998	0.3419	10	0.24483	T	0.36	-21.2224	14.5249	0.67881	1.0:0.0:0.0:0.0	.	117;125	C9J9M7;O75841	.;UPK1B_HUMAN	V	45;125;125;125;117	ENSP00000418972:M45V;ENSP00000264234:M125V;ENSP00000418399:M125V;ENSP00000418597:M125V;ENSP00000418116:M117V	ENSP00000264234:M125V	M	+	1	0	UPK1B	120392546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.906000	0.63293	2.112000	0.64535	0.379000	0.24179	ATG		0.453	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			13	405	0	0	0	1	0	13	405					G	118909856	A	G	118909856	3	3	376	1	0	0	0	0	1	0	0	0	17005	333	12	3	387	3	UPK1B	3	118909856	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	80361410	118909856	79112574	9	34402											
KCNAB1	7881	broad.mit.edu	37	chr3	155860969	155860969	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgggtttttgaaacaTgcatctgtataaacctgcct	7	9	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:155860969T>C	ENST00000490337.1	+	1	339				KCNAB1_ENST00000471742.1_Start_Codon_SNP_p.M1T|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTGAAACATGCATCTGTAT	0.458																																						ENST00000471742.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1-3)aTg>aCg		potassium voltage-gated channel, shaker-related subfamily, beta member 1							70	70	70					3																	155860969		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:155860969T>C	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22294T>C	3.37:g.155860969T>C						KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	p.M1T	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	219	+			0					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Translation_Start_Site	SNP	ENST00000490337.1	37	c.2T>C	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568300	0.45798	.	.	ENSG00000169282	ENST00000471742	T	0.06768	3.26	5.17	5.17	0.71159	.	.	.	.	.	T	0.22399	0.0540	.	.	.	0.80722	D	1	P	0.43662	0.814	P	0.55345	0.774	T	0.00229	-1.1898	8	0.87932	D	0	.	13.2619	0.60111	0.0:0.0:0.0:1.0	.	1	Q14722-3	.	T	1	ENSP00000418956:M1T	ENSP00000418956:M1T	M	+	2	0	KCNAB1	157343663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.216000	0.65246	2.073000	0.62155	0.459000	0.35465	ATG		0.458	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		9	16	0	0	0	1	0	9	16					C	155860969	T	C	155860969	1	2	376	0	1	0	0	0	0	0	0	0	8009	1464	51	3		3	KCNAB1	3	155860969	Intron	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	36951113	155860969	42161461	10	34403											
CTBP1	1487	broad.mit.edu	37	chr4	1206203	1206203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccacgcccaccacgcccGgagggtacctgctgggagag	16	15	0	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:1206203G>A	ENST00000290921.6	-	9	1329	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	CTBP1_ENST00000382952.3_Missense_Mutation_p.P372L	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	383					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CACCACGCCCGGAGGGTACCT	0.721																																						ENST00000382952.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(1114-1116)cCg>cTg		C-terminal binding protein 1							13	12	12					4																	1206203		2156	4266	6422	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206203G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1148C>T	4.37:g.1206203G>A	ENSP00000290921:p.Pro383Leu					CTBP1_ENST00000290921.6_Missense_Mutation_p.P383L	p.P372L	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	10	1499	-			383					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1115C>T	CCDS3348.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392268	0.25118	.	.	ENSG00000159692	ENST00000382952;ENST00000290921	D;D	0.82344	-1.59;-1.6	4.15	2.37	0.29283	.	0.061993	0.64402	D	0.000003	T	0.76234	0.3959	L	0.56769	1.78	0.80722	D	1	P;P;P	0.52463	0.953;0.651;0.651	B;B;B	0.38500	0.275;0.068;0.068	T	0.75323	-0.3358	10	0.51188	T	0.08	-12.3854	10.309	0.43697	0.1652:0.0:0.8348:0.0	.	170;383;372	Q6IP95;Q13363;Q7Z2Q5	.;CTBP1_HUMAN;.	L	372;383	ENSP00000372411:P372L;ENSP00000290921:P383L	ENSP00000290921:P383L	P	-	2	0	CTBP1	1196203	1.000000	0.71417	0.066000	0.19879	0.051000	0.14879	5.672000	0.68102	0.733000	0.32492	0.561000	0.74099	CCG		0.721	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		4	2	0	0	0	1	0	4	2					A	1206203	G	A	1206203	3	1	376	1	0	0	0	0	1	0	0	0	3997	1116	39	1	178	1	CTBP1	4	1206203	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		1206203	189948073	11	34404											
SORCS2	57537	broad.mit.edu	37	chr4	7533275	7533275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatcagatttcgggacGtcctacaccaagctcaccct	8	14	3	1	rs575501301		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000329016.9_Silent_p.T17T|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		20027	0.0		0.0	False		,,,				2504	0.001					ENST00000507866.2																			1	Substitution - coding silent(1)	p.T39T(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(565-567)acG>acA		sortilin-related VPS10 domain containing receptor 2							88	101	97					4																	7533275		2111	4203	6314	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7533275G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.567G>A	4.37:g.7533275G>A						SORCS2_ENST00000329016.9_Silent_p.T17T|SORCS2_ENST00000511199.1_3'UTR	p.T189T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			3	676	+			189					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.567G>A	CCDS47008.1																																																																																				0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	13	0	0	0	1	0	7	13					A	7533275	G	A	7533275	2	1	376	1	0	0	0	0	0	0	0	1	14931	1132	40	1		1	SORCS2	4	7533275	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	6327072	7533275	183621001	12	34405											
CPZ	8532	broad.mit.edu	37	chr4	8616093	8616093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgccacaggcatgtcCgatttcaactacctgcacac	7	15	2	0	rs574133810	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:8616093C>T	ENST00000360986.4	+	9	1545	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	CPZ_ENST00000315782.6_Silent_p.S446S|CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000429646.2_Silent_p.S65S	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	457					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						CAGGCATGTCCGATTTCAACT	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16455	0.0		0.0	False		,,,				2504	0.002					ENST00000429646.2																			0				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						c.(193-195)tcC>tcT		carboxypeptidase Z							132	116	121					4																	8616093		2203	4300	6503	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8616093C>T	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.1371C>T	4.37:g.8616093C>T						CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000315782.6_Silent_p.S446S|CPZ_ENST00000360986.4_Silent_p.S457S	p.S65S			Q66K79	CBPZ_HUMAN			7	2988	+			457			FZ.		O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.195C>T	CCDS33953.1																																																																																				0.612	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		33	29	0	0	0	1	0	33	29					T	8616093	C	T	8616093	2	4	376	1	0	0	0	0	0	0	0	1	3839	639	23	1		1	CPZ	4	8616093	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	1082818	8616093	182538183	13	34406											
ZNF518B	85460	broad.mit.edu	37	chr4	10445618	10445618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggaattaagaacccTcaacacagcccctttgggga	9	12	2	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:10445618T>C	ENST00000326756.3	-	3	2773	c.2335A>G	c.(2335-2337)Agg>Ggg	p.R779G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					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(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTAAGAACCCTCAACACAGCC	0.473																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2335-2337)Agg>Ggg		zinc finger protein 518B							70	70	70					4																	10445618		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445618T>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2335A>G	4.37:g.10445618T>C	ENSP00000317614:p.Arg779Gly						p.R779G	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2773	-			779					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2335A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786904	0.49997	.	.	ENSG00000178163	ENST00000326756	T	0.02197	4.4	6.02	4.82	0.62117	.	0.095949	0.44902	D	0.000413	T	0.07593	0.0191	L	0.48642	1.525	0.31886	N	0.617872	D	0.76494	0.999	D	0.66084	0.941	T	0.02070	-1.1219	10	0.87932	D	0	-15.4899	11.3386	0.49520	0.0:0.0:0.152:0.848	.	779	Q9C0D4	Z518B_HUMAN	G	779	ENSP00000317614:R779G	ENSP00000317614:R779G	R	-	1	2	ZNF518B	10054716	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	1.341000	0.33907	1.070000	0.40811	0.533000	0.62120	AGG		0.473	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		20	45	0	0	0	1	0	20	45					C	10445618	T	C	10445618	3	2	376	1	0	0	0	0	1	0	0	0	17960	1550	54	3	893	3	ZNF518B	4	10445618	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	1829525	10445618	180708658	14	34407											
KDR	3791	broad.mit.edu	37	chr4	55984889	55984889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttacagaagaggccatcGctgcactcagtcacctccac	8	15	3	2	rs141577956	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:55984889G>A	ENST00000263923.4	-	3	535	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	80	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 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 MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCATCGCTGCACTCAG	0.502			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G|||	5	0.000998403	0.0	0.0	5008	,	,		15856	0.0		0.002	False		,,,				2504	0.0031					ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"NSCLC, angiosarcoma"		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(238-240)agC>agT		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)	G		0,4406		0,0,2203	126	117	120		240	-7.4	0.5	4	dbSNP_134	120	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous	KDR	NM_002253.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		80/1357	55984889	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984889G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.240C>T	4.37:g.55984889G>A		TSP Lung(20;0.16)					p.S80S	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		3	535	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		80			Ig-like C2-type 1.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.240C>T	CCDS3497.1																																																																																				0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			11	49	0	0	0	1	0	11	49					A	55984889	G	A	55984889	2	1	376	1	0	0	0	0	0	0	0	1	8139	1078	38	1		1	KDR	4	55984889	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	45539271	55984889	135169387	15	34408											
AGXT2L1	64850	broad.mit.edu	37	chr4	109675776	109675776	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taggattttaagacacttacCacatgtacaaattctttttt	4	7	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:109675776C>G	ENST00000296486.3	-	5	655	c.501G>C	c.(499-501)gtG>gtC	p.V167V	ETNPPL_ENST00000411864.2_Splice_Site_p.V161V|ETNPPL_ENST00000510706.1_Splice_Site_p.V127V|ETNPPL_ENST00000512646.1_Splice_Site_p.V109V	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	167						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AGACACTTACCACATGTACAA	0.348																																						ENST00000296486.3																			0											c.e5+1		ethanolamine-phosphate phospho-lyase							102	100	100					4																	109675776		2203	4299	6502	SO:0001630	splice_region_variant	64850							g.chr4:109675776C>G	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.501+1G>C	4.37:g.109675776C>G						ETNPPL_ENST00000411864.2_Splice_Site_p.V161_splice|ETNPPL_ENST00000512646.1_Splice_Site_p.V109_splice|ETNPPL_ENST00000510706.1_Splice_Site_p.V127_splice	p.V167_splice	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					5	655	-								B7Z1Y0|E9PBY0|Q9H174	Splice_Site	SNP	ENST00000296486.3	37	c.501_splice	CCDS3682.1																																																																																				0.348	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	Silent	9	26	0	0	0	1	0	9	26					G	109675776	C	G	109675776	5	3	376	1	0	0	0	0	0	0	1	0	406	608	21	4	1034	4	AGXT2L1	4	109675776	Splice_Site	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	53690887	109675776	81478500	16	34409											
NEK1	4750	broad.mit.edu	37	chr4	170476964	170476964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgatgacctgcagccCcataaggaaatcctggacga	11	10	0	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:170476964C>T	ENST00000439128.2	-	17	2109	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000510533.1_Intron|NEK1_ENST00000512193.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	490					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTGCAGCCCCATAAGGAAA	0.413																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1468-1470)gGg>gAg		NIMA-related kinase 1							105	99	101					4																	170476964		1853	4102	5955	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170476964C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1469G>A	4.37:g.170476964C>T	ENSP00000408020:p.Gly490Glu					NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron	p.G490E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	17	2109	-		Prostate(90;0.00601)|Renal(120;0.0183)	490					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1469G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920106	0.33908	.	.	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.68479	-0.33;-0.32	5.67	3.94	0.45596	.	0.000000	0.56097	D	0.000039	T	0.50188	0.1601	N	0.22421	0.69	0.80722	D	1	B;B;B	0.29085	0.015;0.232;0.149	B;B;B	0.31442	0.009;0.13;0.061	T	0.35525	-0.9785	10	0.24483	T	0.36	.	9.9124	0.41415	0.0:0.7889:0.0:0.2111	.	490;490;490	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	E	490	ENSP00000408020:G490E;ENSP00000424757:G490E	ENSP00000408020:G490E	G	-	2	0	NEK1	170713539	1.000000	0.71417	0.985000	0.45067	0.701000	0.40568	2.756000	0.47549	0.743000	0.32719	-0.229000	0.12294	GGG		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			21	47	0	0	0	1	0	21	47					T	170476964	C	T	170476964	3	4	376	1	0	0	0	0	1	0	0	0	10321	623	22	2	2379	2	NEK1	4	170476964	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	60801188	170476964	20677312	17	34410											
C5orf42	65250	broad.mit.edu	37	chr5	37154027	37154030	+	Frame_Shift_Del	DEL	ATAG	ATAG	-													accttgcagccgtttccacaAtagataatcttctgcagagt					rs375897633		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:37154027_37154030delATAG	ENST00000508244.1	-	40	8116_8119	c.8023_8026delCTAT	c.(8023-8028)ctattgfs	p.LL2675fs	C5orf42_ENST00000274258.7_Frame_Shift_Del_p.LL1573fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2675						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)			CGTTTCCACAATAGATAATCTTCT	0.431																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4717-4722)tgfs		chromosome 5 open reading frame 42																																				SO:0001589	frameshift_variant	65250							g.chr5:37154027_37154030delATAG		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.8023_8026delCTAT	5.37:g.37154027_37154030delATAG	ENSP00000421690:p.Leu2675fs					C5orf42_ENST00000508244.1_Frame_Shift_Del_p.LL2675fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs	p.LL1573fs			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		41	8304_8307	-	all_lung(31;0.000616)		2675					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Del	DEL	ENST00000508244.1	37	c.4717_4720delCTAT	CCDS34146.2																																																																																				0.431	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		23	53						23	53	---	---	---	---	-	37154030	ATAG	-	37154027	7	5	376	1	0	1	0	1	0	0	0	0	2301	98	4	0	1615	0	C5orf42	5	37154027	Frame_Shift_Del	DEL	ATAG	TCGA-P5-A77X-01A-11D-A32B-08		37154027	143761233	18	34411											
ATP10B	23120	broad.mit.edu	37	chr5	160061405	160061405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccatgatggtgcaacgtCggaacaccatcttgttctct	9	12	2	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:160061405C>T	ENST00000327245.5	-	12	2183	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	446					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)			GGTGCAACGTCGGAACACCAT	0.502																																						ENST00000327245.5																			0				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						c.(1336-1338)cGa>cAa		ATPase, class V, type 10B							130	130	130					5																	160061405		1964	4153	6117	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061405C>T	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.1337G>A	5.37:g.160061405C>T	ENSP00000313600:p.Arg446Gln					CTC-348L5.1_ENST00000523598.1_RNA	p.R446Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2183	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	446					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1337G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420891	0.83559	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.45668	0.89;0.89	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	L	0.48260	1.515	0.51482	D	0.999928	D;D;D;D;D	0.89917	1.0;0.965;1.0;1.0;1.0	D;P;D;D;D	0.77004	0.981;0.767;0.989;0.985;0.973	T	0.53655	-0.8408	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	490;446;418;54;446	B4DHG1;O94823-2;O94823-3;Q2YDW8;O94823	.;.;.;.;AT10B_HUMAN	Q	446;54	ENSP00000313600:R446Q;ENSP00000431081:R54Q	.	R	-	2	0	ATP10B	159993983	1.000000	0.71417	0.182000	0.23118	0.902000	0.53008	5.966000	0.70395	2.605000	0.88082	0.655000	0.94253	CGA		0.502	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		24	78	0	0	0	1	0	24	78					T	160061405	C	T	160061405	3	4	376	1	0	0	0	0	1	0	0	0	1117	884	31	1	3108	1	ATP10B	5	160061405	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	122907378	160061405	20853855	19	34412											
ADAT2	134637	broad.mit.edu	37	chr6	143771733	143771735	+	In_Frame_Del	DEL	CTC	CTC	-													tcctccatccacttttcggtCtcctctgccgacaccgagca							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:143771733_143771735delCTC	ENST00000237283.8	-	1	75_77	c.61_63delGAG	c.(61-63)gagdel	p.E21del	RNA5SP221_ENST00000411271.1_RNA|ADAT2_ENST00000367593.1_5'UTR|PEX3_ENST00000367591.4_5'Flank	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	21					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACTTTTCGGTCTCCTCTGCCGAC	0.665																																						ENST00000237283.8																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(61-63)del		adenosine deaminase, tRNA-specific 2																																				SO:0001651	inframe_deletion	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143771733_143771735delCTC	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"deaminase domain containing 1", "adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.61_63delGAG	6.37:g.143771736_143771738delCTC	ENSP00000237283:p.Glu21del					ADAT2_ENST00000367593.1_5'UTR	p.E21del	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	1	75_77	-			21					A6NL12|B3KWY3|Q7Z327|Q8IY39	In_Frame_Del	DEL	ENST00000237283.8	37	c.61_63delGAG	CCDS43511.1																																																																																				0.665	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		43	177						43	177	---	---	---	---	-	143771735	CTC	-	143771733	7	5	376	1	0	1	0	1	0	0	0	0	285	912	32	0	536	0	ADAT2	6	143771733	In_Frame_Del	DEL	CTC	TCGA-P5-A77X-01A-11D-A32B-08		143771733	27343334	20	34413											
LATS1	9113	broad.mit.edu	37	chr6	150001374	150001376	+	In_Frame_Del	DEL	GAA	GAA	-													aacatgagcgacttgatttcGaagaagaacatctttctttc							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:150001374_150001376delGAA	ENST00000543571.1	-	5	2775_2777	c.2228_2230delTTC	c.(2227-2232)cttcga>cga	p.L743del	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.L743del	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)		ACTTGATTTCGAAGAAGAACATC	0.384																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2227-2232)cga>c		large tumor suppressor kinase 1																																				SO:0001651	inframe_deletion	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001374_150001376delGAA	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.2228_2230delTTC	6.37:g.150001380_150001382delGAA	ENSP00000437550:p.Leu743del					LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.LR743del	p.LR743del	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2775_2777	-		Ovarian(120;0.0164)	743			Protein kinase.			In_Frame_Del	DEL	ENST00000543571.1	37	c.2228_2230delTTC	CCDS34551.1																																																																																				0.384	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		23	112						23	112	---	---	---	---	-	150001376	GAA	-	150001374	7	5	376	1	0	1	0	1	0	0	0	0	8646	1066	37	0	1178	0	LATS1	6	150001374	In_Frame_Del	DEL	GAA	TCGA-P5-A77X-01A-11D-A32B-08	6229641	150001374	21113693	21	34414											
PSMA2	5683	broad.mit.edu	37	chr7	42966160	42966160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcggggcccatgccactgtAcaccaaacctatatgcttgg	9	13	0	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr7:42966160A>G	ENST00000223321.4	-	3	290	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	PSMA2_ENST00000442788.1_Missense_Mutation_p.Y76H|PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_5'UTR	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	76					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)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGCCACTGTACACCAAACCT	0.373																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(226-228)Tac>Cac		proteasome (prosome, macropain) subunit, alpha type, 2							170	146	154					7																	42966160		2203	4300	6503	SO:0001583	missense	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42966160A>G	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"Proteasome (prosome, macropain) subunits"	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.226T>C	7.37:g.42966160A>G	ENSP00000223321:p.Tyr76His					PSMA2_ENST00000223321.4_Missense_Mutation_p.Y76H|PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000538645.1_5'UTR	p.Y76H			P25787	PSA2_HUMAN			3	241	-			76					Q6ICS6|Q9BU45	Missense_Mutation	SNP	ENST00000223321.4	37	c.226T>C	CCDS5467.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802747	0.90623	.	.	ENSG00000106588	ENST00000223321	T	0.23147	1.92	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63522	0.2518	H	0.94222	3.51	0.80722	D	1	D	0.55605	0.972	D	0.79108	0.992	T	0.73789	-0.3872	10	0.59425	D	0.04	.	16.1205	0.81351	1.0:0.0:0.0:0.0	.	76	P25787	PSA2_HUMAN	H	76	ENSP00000223321:Y76H	ENSP00000223321:Y76H	Y	-	1	0	PSMA2	42932685	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.228000	0.95250	2.205000	0.71048	0.533000	0.62120	TAC		0.373	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		3	45	0	0	0	1	0	3	45					G	42966160	A	G	42966160	3	3	376	1	0	0	0	0	1	0	0	0	12667	391	14	3	502	3	PSMA2	7	42966160	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		42966160	116172503	22	34415											
FAM84B	157638	broad.mit.edu	37	chr8	127568724	127568726	+	In_Frame_Del	DEL	TCC	TCC	-													agtgtgccactgcctctccgTcctcctcctcggagctgggc							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr8:127568724_127568726delTCC	ENST00000304916.3	-	2	1364_1366	c.909_911delGGA	c.(907-912)gaggac>gac	p.E303del	RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	303						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCCTCTCCGTCCTCCTCCTCGG	0.7																																						ENST00000304916.3																			0				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(907-912)gac>ga		family with sequence similarity 84, member B																																				SO:0001651	inframe_deletion	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127568724_127568726delTCC	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.909_911delGGA	8.37:g.127568730_127568732delTCC	ENSP00000302578:p.Glu303del						p.ED303del	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	1364_1366	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		303						In_Frame_Del	DEL	ENST00000304916.3	37	c.909_911delGGA	CCDS6358.1																																																																																				0.7	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		2	4						2	4	---	---	---	---	-	127568726	TCC	-	127568724	7	5	376	1	0	1	0	1	0	0	0	0	5642	1667	58	0	25	0	FAM84B	8	127568724	In_Frame_Del	DEL	TCC	TCGA-P5-A77X-01A-11D-A32B-08		127568724	18795298	23	34416											
PRUNE2	158471	broad.mit.edu	37	chr9	79322596	79322596	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actagaaatagtatctctgtCaaaatttccagacgaaccgg	7	9	2	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:79322596C>T	ENST00000376718.3	-	8	4717	c.4594G>A	c.(4594-4596)Gac>Aac	p.D1532N	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D1173N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1532					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTATCTCTGTCAAAATTTCCA	0.448																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3517-3519)Gac>Aac		prune homolog 2 (Drosophila)							55	50	52					9																	79322596		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322596C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4594G>A	9.37:g.79322596C>T	ENSP00000365908:p.Asp1532Asn					PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1532N	p.D1173N			Q8WUY3	PRUN2_HUMAN			8	4717	-			1532					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3517G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	1.239	-0.621942	0.03636	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.53423	0.62;0.63	5.91	5.01	0.66863	.	0.913555	0.09291	N	0.822229	T	0.44030	0.1274	L	0.47716	1.5	0.39417	D	0.966848	P	0.43094	0.799	B	0.35859	0.212	T	0.46091	-0.9216	10	0.87932	D	0	-2.2402	14.4171	0.67158	0.0:0.8436:0.1564:0.0	.	1532	Q8WUY3	PRUN2_HUMAN	N	1532;1173;1531	ENSP00000365908:D1532N;ENSP00000397425:D1173N	ENSP00000365908:D1532N	D	-	1	0	PRUNE2	78512416	0.847000	0.29606	0.012000	0.15200	0.002000	0.02628	2.474000	0.45154	1.491000	0.48482	0.655000	0.94253	GAC		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		4	11	0	0	0	1	0	4	11					T	79322596	C	T	79322596	3	4	376	1	0	0	0	0	1	0	0	0	12641	826	29	2	4720	2	PRUNE2	9	79322596	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		79322596	61890835	24	34417											
WDR31	114987	broad.mit.edu	37	chr9	116080790	116080790	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatcttcaccttgcaaTcatgtgatgaggtagcaatt	7	9	3	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:116080790T>A	ENST00000374193.4	-	10	1154	c.908A>T	c.(907-909)gAt>gTt	p.D303V	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000341761.4_Missense_Mutation_p.D302V	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	303										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CACCTTGCAATCATGTGATGA	0.423																																						ENST00000374193.4																			0				NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(907-909)gAt>gTt		WD repeat domain 31							172	150	157					9																	116080790		2203	4300	6503	SO:0001583	missense	114987							g.chr9:116080790T>A	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.908A>T	9.37:g.116080790T>A	ENSP00000363308:p.Asp303Val					WDR31_ENST00000341761.4_Missense_Mutation_p.D302V|WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000461942.1_5'UTR	p.D303V	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN			10	1154	-			303					Q5W0T9|Q96EG8	Missense_Mutation	SNP	ENST00000374193.4	37	c.908A>T	CCDS35110.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.872564	0.91587	.	.	ENSG00000148225	ENST00000374193;ENST00000374195;ENST00000341761	D;D;D	0.89415	-2.51;-2.51;-2.51	6.04	6.04	0.98038	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	0.96772	0.8946	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	-16.9289	15.7575	0.78046	0.0:0.0:0.0:1.0	.	303;302	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	V	303;178;302	ENSP00000363308:D303V;ENSP00000363310:D178V;ENSP00000345027:D302V	ENSP00000345027:D302V	D	-	2	0	WDR31	115120611	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.774000	0.75012	2.317000	0.78254	0.459000	0.35465	GAT		0.423	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		16	73	0	0	0	1	0	16	73					A	116080790	T	A	116080790	3	1	376	1	0	0	0	0	1	0	0	0	17283	1435	50	5	203	5	WDR31	9	116080790	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	36758194	116080790	25132641	25	34418											
RET	5979	broad.mit.edu	37	chr10	43619143	43619143	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttggtgtcctgctgtgGgagatcgtgaccctaggggg	16	8	1	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:43619143G>A	ENST00000355710.3	+	17	3058	c.2826G>A	c.(2824-2826)tgG>tgA	p.W942*	RET_ENST00000340058.5_Nonsense_Mutation_p.W942*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	942	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)	TCCTGCTGTGGGAGATCGTGA	0.602		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)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				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	GRCh37	CM001787	RET	M		c.(2824-2826)tgG>tgA		ret proto-oncogene	Sunitinib(DB01268)						132	131	131					10																	43619143		2203	4300	6503	SO:0001587	stop_gained	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619143G>A	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.2826G>A	10.37:g.43619143G>A	ENSP00000347942:p.Trp942*					RET_ENST00000340058.5_Nonsense_Mutation_p.W942*	p.W942*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			17	3058	+		Ovarian(717;0.0423)	942			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Nonsense_Mutation	SNP	ENST00000355710.3	37	c.2826G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	g	38	6.889983	0.97912	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	.	.	.	5.33	4.44	0.53790	.	0.055626	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2128	0.82178	0.0:0.1333:0.8667:0.0	.	.	.	.	X	942	.	ENSP00000344798:W942X	W	+	3	0	RET	42939149	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	9.869000	0.99810	1.271000	0.44313	-0.215000	0.12644	TGG		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		4	170	0	0	0	1	0	4	170					A	43619143	G	A	43619143	4	1	376	1	0	0	0	0	0	1	0	0	13235	1241	43	2	2892	2	RET	10	43619143	Nonsense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		43619143	91915604	26	34419											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	11	7	1	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		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)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59	70	66					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	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.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		4	122	0	0	0	1	0	4	122					A	75406859	G	A	75406859	3	1	376	1	0	0	0	0	1	0	0	0	15455	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	31787716	75406859	60127888	27	34420											
TMEM86A	144110	broad.mit.edu	37	chr11	18723300	18723300	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtggcccttatcggctTcatgggctggcgagctatgg	14	10	1	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:18723300T>G	ENST00000280734.2	+	3	563	c.467T>G	c.(466-468)tTc>tGc	p.F156C		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	156						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTTATCGGCTTCATGGGCTGG	0.627																																						ENST00000280734.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						c.(466-468)tTc>tGc		transmembrane protein 86A							60	56	57					11																	18723300		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18723300T>G	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.467T>G	11.37:g.18723300T>G	ENSP00000280734:p.Phe156Cys						p.F156C	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN			3	563	+			156					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.467T>G	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534656	0.64972	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.22539	1.95	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.39566	1.225	0.58432	D	0.999995	D	0.76494	0.999	D	0.68192	0.956	T	0.02398	-1.1165	9	.	.	.	-24.128	10.0268	0.42076	0.0:0.0744:0.0:0.9256	.	156	Q8N2M4	TM86A_HUMAN	C	156	ENSP00000280734:F156C	.	F	+	2	0	TMEM86A	18679876	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.512000	0.81728	2.279000	0.76181	0.533000	0.62120	TTC		0.627	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		13	19	0	0	0	1	0	13	19					G	18723300	T	G	18723300	3	3	376	1	0	0	0	0	1	0	0	0	16205	1783	62	5	477	5	TMEM86A	11	18723300	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08		18723300	116283216	28	34421											
PRPF19	27339	broad.mit.edu	37	chr11	60665317	60665317	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcccaggaccagcctctaCctgtaaagtgaagaatctcc	9	13	2	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:60665317C>G	ENST00000227524.4	-	15	1623		c.e15+1			NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGCCTCTACCTGTAAAGTG	0.527																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.e15+1		pre-mRNA processing factor 19							90	98	96					11																	60665317		2203	4299	6502	SO:0001630	splice_region_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665317C>G	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1417+1G>C	11.37:g.60665317C>G								NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			15	1623	-									Splice_Site	SNP	ENST00000227524.4	37		CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423764	0.83667	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.687	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRPF19	60421893	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.258000	0.78371	2.570000	0.86706	0.650000	0.86243	.		0.527	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	Intron	3	92	0	0	0	1	0	3	92					G	60665317	C	G	60665317	5	3	376	1	0	0	0	0	0	0	1	0	12564	521	18	4	104	4	PRPF19	11	60665317	Splice_Site	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	41942017	60665317	74341199	29	34422											
PACS1	55690	broad.mit.edu	37	chr11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcagccgccgccgcAgcagcagcagcagcagccgc	12	20	1	0	rs369233658	byFrequency	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ccgccgccgcagcagcagcag	0.796													A|||	11	0.00219649	0.0015	0.0014	5008	,	,		5485	0.005		0.002	False		,,,				2504	0.001					ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(103-105)cAg>cCg		phosphofurin acidic cluster sorting protein 1							2	3	3					11																	65838061		1347	2972	4319	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838061A>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.104A>C	11.37:g.65838061A>C	ENSP00000316454:p.Gln35Pro						p.Q35P	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	137	+			35			Gly-rich.|Poly-Gln.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.104A>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.981563	0.00448	.	.	ENSG00000175115	ENST00000320580	T	0.25414	1.8	.	.	.	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	0.20821	N	0.999845	.	.	.	.	.	.	T	0.19910	-1.0291	5	0.52906	T	0.07	.	.	.	.	.	35;35	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	P	35	ENSP00000316454:Q35P	ENSP00000316454:Q35P	Q	+	2	0	PACS1	65594637	0.213000	0.23551	0.029000	0.17559	0.156000	0.22039	0.616000	0.24344	-1.624000	0.01556	-1.675000	0.00742	CAG		0.796	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	3	0	0	0	1	0	2	3					C	65838061	A	C	65838061	3	2	376	1	0	0	0	0	1	0	0	0	11372	188	7	5	106	5	PACS1	11	65838061	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	5172744	65838061	69168455	30	34423											
USP28	57646	broad.mit.edu	37	chr11	113704275	113704276	+	Frame_Shift_Del	DEL	TT	TT	-													gcataaacatgatatttctcTtttcctgtagaaaacacagt							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:113704275_113704276delTT	ENST00000003302.4	-	7	693_694	c.625_626delAA	c.(625-627)aagfs	p.K209fs	USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	209	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATTTCTCTTTTCCTGTAGA	0.332																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(625-627)gfs		ubiquitin specific peptidase 28																																				SO:0001589	frameshift_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704275_113704276delTT	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.625_626delAA	11.37:g.113704277_113704278delTT	ENSP00000003302:p.Lys209fs					USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs|USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000542033.1_5'UTR	p.K209fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	693_694	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	209					B0YJC0|B0YJC1|Q9P213	Frame_Shift_Del	DEL	ENST00000003302.4	37	c.625_626delAA	CCDS31680.1																																																																																				0.332	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			26	39						26	39	---	---	---	---	-	113704276	TT	-	113704275	7	5	376	1	0	1	0	1	0	0	0	0	17055	1609	56	0	2683	0	USP28	11	113704275	Frame_Shift_Del	DEL	TT	TCGA-P5-A77X-01A-11D-A32B-08	47866214	113704275	21302241	31	34424											
TAS2R31	259290	broad.mit.edu	37	chr12	11183257	11183258	+	Frame_Shift_Del	DEL	TT	TT	-													aagatcacagtttgcaaagcTtttatgtggaccttggtgct							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:11183257_11183258delTT	ENST00000390675.2	-	1	748_749	c.677_678delAA	c.(676-678)aaafs	p.K226fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	226					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						TTTGCAAAGCTTTTATGTGGAC	0.396																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(676-678)afs		taste receptor, type 2, member 31																																				SO:0001589	frameshift_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183257_11183258delTT	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.677_678delAA	12.37:g.11183259_11183260delTT	ENSP00000375093:p.Lys226fs					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.K226fs	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	748_749	-			226					P59547|Q17R84|Q645X5	Frame_Shift_Del	DEL	ENST00000390675.2	37	c.677_678delAA	CCDS53747.1																																																																																				0.396	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		34	149						34	149	---	---	---	---	-	11183258	TT	-	11183257	7	5	376	1	0	1	0	1	0	0	0	0	15571	1606	56	0	255	0	TAS2R31	12	11183257	Frame_Shift_Del	DEL	TT	TCGA-P5-A77X-01A-11D-A32B-08		11183257	122668638	32	34425											
WDR66	144406	broad.mit.edu	37	chr12	122396945	122396945	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcctttcaaatattccaGaaccagtgtgactcatataa	6	9	2	3			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:122396945G>T	ENST00000288912.4	+	13	2932	c.2078G>T	c.(2077-2079)aGa>aTa	p.R693I	WDR66_ENST00000397454.2_Missense_Mutation_p.R693I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	693							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAATATTCCAGAACCAGTGTG	0.423																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2077-2079)aGa>aTa		WD repeat domain 66							172	160	164					12																	122396945		1833	4087	5920	SO:0001583	missense	144406						calcium ion binding	g.chr12:122396945G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2078G>T	12.37:g.122396945G>T	ENSP00000288912:p.Arg693Ile					WDR66_ENST00000397454.2_Missense_Mutation_p.R693I	p.R693I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	13	2932	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		693					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2078G>T	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556057	0.65425	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.63417	1.01;-0.04	4.87	0.858	0.19030	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.325727	0.34700	N	0.003741	T	0.61476	0.2350	M	0.68317	2.08	0.40100	D	0.976367	P	0.37141	0.584	B	0.43623	0.425	T	0.63260	-0.6677	10	0.72032	D	0.01	.	8.5871	0.33664	0.4218:0.0:0.5782:0.0	.	693	Q8TBY9	WDR66_HUMAN	I	693	ENSP00000288912:R693I;ENSP00000380595:R693I	ENSP00000288912:R693I	R	+	2	0	WDR66	120881328	0.906000	0.30813	0.274000	0.24659	0.979000	0.70002	0.890000	0.28295	0.430000	0.26230	0.491000	0.48974	AGA		0.423	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		8	152	1	0	1.06961e-07	1	1.09287e-07	8	152					T	122396945	G	T	122396945	3	4	376	1	0	0	0	0	1	0	0	0	17314	942	33	4	2124	4	WDR66	12	122396945	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	111213688	122396945	11454950	33	34426											
OLFM4	10562	broad.mit.edu	37	chr13	53603147	53603147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctccagctccagccgcaGcttaggcagcggaggttctg	15	13	1	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr13:53603147G>A	ENST00000219022.2	+	1	254	c.176G>A	c.(175-177)aGc>aAc	p.S59N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	59	Ser-rich.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		tccagccgcagcTTAGGCAGC	0.572																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(175-177)aGc>aAc		olfactomedin 4							55	62	60					13																	53603147		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53603147G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.176G>A	13.37:g.53603147G>A	ENSP00000219022:p.Ser59Asn						p.S59N	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	1	254	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	59			Ser-rich.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.176G>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	7.996	0.754303	0.15778	.	.	ENSG00000102837	ENST00000219022	D	0.91011	-2.77	3.77	0.718	0.18202	.	5.424620	0.00447	N	0.000099	T	0.78059	0.4224	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.66984	-0.5785	10	0.17369	T	0.5	.	1.2493	0.01979	0.1327:0.1805:0.3915:0.2953	.	59	Q6UX06	OLFM4_HUMAN	N	59	ENSP00000219022:S59N	ENSP00000219022:S59N	S	+	2	0	OLFM4	52501148	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.270000	0.08584	0.096000	0.17463	0.467000	0.42956	AGC		0.572	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		27	72	0	0	0	1	0	27	72					A	53603147	G	A	53603147	3	1	376	1	0	0	0	0	1	0	0	0	10855	971	34	2	178	2	OLFM4	13	53603147	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		53603147	61566731	34	34427											
HDGFRP3	50810	broad.mit.edu	37	chr15	83876152	83876152	+	Frame_Shift_Del	DEL	C	C	-													cccgctttgtactcgcggggCcgcggacgcgccatcccagc							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr15:83876152delC	ENST00000299633.4	-	1	618	c.15delG	c.(13-15)cggfs	p.R5fs	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		5					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACTCGCGGGGCCGCGGACGCG	0.756																																						ENST00000299633.4																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(13-15)cgfs									8	9	9					15																	83876152		2139	4218	6357	SO:0001589	frameshift_variant	0				cell proliferation	nucleus	growth factor activity	g.chr15:83876152delC																												ENST00000299633.4:c.15delG	15.37:g.83876152delC	ENSP00000299633:p.Arg5fs					RP11-382A20.4_ENST00000565495.1_RNA	p.R5fs	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN			1	618	-			5						Frame_Shift_Del	DEL	ENST00000299633.4	37	c.15delG	CCDS32314.1																																																																																				0.756	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1			2	4						2	4	---	---	---	---	-	83876152	C	-	83876152	7	5	376	1	0	1	0	1	0	0	0	0	7021	726	26	0	620	0	HDGFRP3	15	83876152	Frame_Shift_Del	DEL	C	TCGA-P5-A77X-01A-11D-A32B-08		83876152	18655240	35	34428											
CHD9	80205	broad.mit.edu	37	chr16	53276924	53276924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagggcctgaaactcatgaAtctggtaagtaacttaatat	9	6	2	3			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr16:53276924A>G	ENST00000398510.3	+	12	3137	c.3050A>G	c.(3049-3051)aAt>aGt	p.N1017S	CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S|CHD9_ENST00000566029.1_Missense_Mutation_p.N1017S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1017	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				AAACTCATGAATCTGGTAAGT	0.279																																						ENST00000566029.1																			0				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						c.(3049-3051)aAt>aGt		chromodomain helicase DNA binding protein 9							71	70	71					16																	53276924		1809	4071	5880	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53276924A>G	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.3050A>G	16.37:g.53276924A>G	ENSP00000381522:p.Asn1017Ser					CHD9_ENST00000398510.3_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S	p.N1017S			Q3L8U1	CHD9_HUMAN			13	3259	+		all_cancers(37;0.0212)	1017			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3050A>G		.	.	.	.	.	.	.	.	.	.	A	14.39	2.520726	0.44866	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.92249	-3.0;-3.0	5.4	5.4	0.78164	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000025	D	0.84611	0.5510	N	0.11724	0.165	0.58432	D	0.999997	B;B;P;P	0.38420	0.008;0.198;0.63;0.577	B;B;B;B	0.36922	0.023;0.236;0.191;0.121	D	0.84786	0.0776	10	0.31617	T	0.26	-23.2022	15.7172	0.77677	1.0:0.0:0.0:0.0	.	543;1017;1017;1017	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1017;1017;543	ENSP00000396345:N1017S;ENSP00000381522:N1017S	ENSP00000219084:N543S	N	+	2	0	CHD9	51834425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.876000	0.63079	2.170000	0.68504	0.460000	0.39030	AAT		0.279	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		3	57	0	0	0	1	0	3	57					G	53276924	A	G	53276924	3	3	376	1	0	0	0	0	1	0	0	0	3332	101	4	3	3096	3	CHD9	16	53276924	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		53276924	37077829	36	34429											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215685	8215685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccggcgctccgcctccCcagaacctgctccccggtct	9	21	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:8215685C>T	ENST00000361926.3	+	2	438	c.328C>T	c.(328-330)Cca>Tca	p.P110S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	110	Pro-rich.				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)	p.P110T(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672																																						ENST00000361926.3																			1	Substitution - Missense(1)	p.P110T(1)	lung(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(328-330)Cca>Tca		Rho guanine nucleotide exchange factor (GEF) 15							95	103	100					17																	8215685		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215685C>T	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.328C>T	17.37:g.8215685C>T	ENSP00000355026:p.Pro110Ser					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	438	+			110			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.328C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144756	0.21288	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81078	-1.45;-1.45	4.85	4.85	0.62838	.	0.482977	0.17170	N	0.184335	D	0.82944	0.5147	L	0.27053	0.805	0.26775	N	0.969725	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.75434	-0.3319	10	0.56958	D	0.05	-10.294	13.3958	0.60851	0.0:1.0:0.0:0.0	.	110;110	D3DTR7;O94989	.;ARHGF_HUMAN	S	110	ENSP00000355026:P110S;ENSP00000412505:P110S	ENSP00000355026:P110S	P	+	1	0	ARHGEF15	8156410	0.999000	0.42202	1.000000	0.80357	0.362000	0.29581	3.576000	0.53878	2.549000	0.85964	0.555000	0.69702	CCA		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		4	158	0	0	0	1	0	4	158					T	8215685	C	T	8215685	3	4	376	1	0	0	0	0	1	0	0	0	898	623	22	2	330	2	ARHGEF15	17	8215685	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		8215685	72979525	37	34430											
ATAD5	79915	broad.mit.edu	37	chr17	29220737	29220740	+	Frame_Shift_Del	DEL	AAAG	AAAG	-													aaaggaaacaatccagagacAaagaaatctattccttgtcc							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:29220737_29220740delAAAG	ENST00000321990.4	+	21	5244_5247	c.4866_4869delAAAG	c.(4864-4869)acaaagfs	p.TK1622fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1622					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)				ATCCAGAGACAAAGAAATCTATTC	0.392																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4864-4869)acfs		ATPase family, AAA domain containing 5																																				SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220737_29220740delAAAG		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.4866_4869delAAAG	17.37:g.29220737_29220740delAAAG	ENSP00000313171:p.Thr1622fs						p.TK1622fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5244_5247	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1622					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.4866_4869delAAAG	CCDS11260.1																																																																																				0.392	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		45	73						45	73	---	---	---	---	-	29220740	AAAG	-	29220737	7	5	376	1	0	1	0	1	0	0	0	0	1076	117	5	0	4948	0	ATAD5	17	29220737	Frame_Shift_Del	DEL	AAAG	TCGA-P5-A77X-01A-11D-A32B-08	21005052	29220737	51974473	38	34431											
RHOT1	55288	broad.mit.edu	37	chr17	30534025	30534025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagcaatcccaaatcctttGaatactgtgccaggattttt	6	10	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:30534025G>A	ENST00000333942.6	+	17	1752	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K|RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K|RHOT1_ENST00000358365.3_Missense_Mutation_p.E505K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	505	Miro 2.				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)	p.E505Q(1)		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)				CAAATCCTTTGAATACTGTGC	0.373																																						ENST00000358365.3																			1	Substitution - Missense(1)	p.E505Q(1)	urinary_tract(1)	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						c.(1513-1515)Gaa>Aaa		ras homolog family member T1							187	173	177					17																	30534025		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30534025G>A	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.1513G>A	17.37:g.30534025G>A	ENSP00000334724:p.Glu505Lys					RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E505K|RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K	p.E505K	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			17	1740	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	505			Miro 2.		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.1513G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751782	0.69533	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.68624	-0.34;-0.34;-0.34	5.66	5.66	0.87406	Mitochondrial Rho-like (1);MIRO (1);	0.043425	0.85682	D	0.000000	T	0.64249	0.2581	L	0.39085	1.19	0.80722	D	1	B;B;B;P	0.39940	0.337;0.302;0.217;0.696	B;B;B;B	0.43155	0.133;0.41;0.098;0.283	T	0.60316	-0.7287	10	0.30078	T	0.28	-16.9028	19.7529	0.96275	0.0:0.0:1.0:0.0	.	505;505;505;505	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	K	505	ENSP00000351132:E505K;ENSP00000378184:E505K;ENSP00000334724:E505K	ENSP00000334724:E505K	E	+	1	0	RHOT1	27558138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.668000	0.90789	0.460000	0.39030	GAA		0.373	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		37	75	0	0	0	1	0	37	75					A	30534025	G	A	30534025	3	1	376	1	0	0	0	0	1	0	0	0	13343	1291	45	2	1579	2	RHOT1	17	30534025	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	1313288	30534025	50661185	39	34432											
LRRC37A2	474170	broad.mit.edu	37	chr17	44630791	44630793	+	In_Frame_Del	DEL	AAG	AAG	-													ttgtcaccgaaggtcattacAagaagatgaagaaggattct							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:44630791_44630793delAAG	ENST00000576629.1	+	12	5330_5332	c.4835_4837delAAG	c.(4834-4839)caagaa>caa	p.E1613del	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000570550.1_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.E1613del|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1613						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)		AGGTCATTACAAGAAGATGAAGA	0.369																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.(4834-4839)caa>c		leucine rich repeat containing 37, member A2																																				SO:0001651	inframe_deletion	474170					integral to membrane		g.chr17:44630791_44630793delAAG	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.4835_4837delAAG	17.37:g.44630794_44630796delAAG	ENSP00000459551:p.Glu1613del					ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.QE1612del|ARL17A_ENST00000573185.1_Intron	p.QE1612del			A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	12	5330_5332	+		Melanoma(429;0.211)	1612					B7ZMC3	In_Frame_Del	DEL	ENST00000576629.1	37	c.4835_4837delAAG	CCDS42353.1																																																																																				0.369	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		23	243						23	243	---	---	---	---	-	44630793	AAG	-	44630791	7	5	376	1	0	1	0	1	0	0	0	0	8992	130	5	0	4877	0	LRRC37A2	17	44630791	In_Frame_Del	DEL	AAG	TCGA-P5-A77X-01A-11D-A32B-08	14096766	44630791	36564419	40	34433											
CACNA1G	8913	broad.mit.edu	37	chr17	48653584	48653584	+	Frame_Shift_Del	DEL	A	A	-													acgctgaaggagaaggcactAgtagaggtggctgccagctc							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:48653584delA	ENST00000359106.5	+	8	1821	c.1821delA	c.(1819-1821)ctafs	p.L607fs	CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	607					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)			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)	AGAAGGCACTAGTAGAGGTGG	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1819-1821)ctfs		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						15	19	18					17																	48653584		2060	4194	6254	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48653584delA	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.1821delA	17.37:g.48653584delA	ENSP00000352011:p.Leu607fs					CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs	p.L607fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		8	2193	+	Breast(11;6.7e-17)		607					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	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.1821delA	CCDS45730.1																																																																																				0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		2	4						2	4	---	---	---	---	-	48653584	A	-	48653584	7	5	376	1	0	1	0	1	0	0	0	0	2544	407	15	0	1851	0	CACNA1G	17	48653584	Frame_Shift_Del	DEL	A	TCGA-P5-A77X-01A-11D-A32B-08	4022793	48653584	32541626	41	34434											
MATK	4145	broad.mit.edu	37	chr19	3785085	3785086	+	Frame_Shift_Del	DEL	CA	CA	-													gggaagttcctcagcagaatCacagccgtgaaatgcccgcc							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:3785085_3785086delCA	ENST00000310132.6	-	2	446_447	c.48_49delTG	c.(46-51)tgtgatfs	p.CD16fs	MATK_ENST00000590821.1_5'Flank|MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395045.2_Intron|MATK_ENST00000395040.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	16					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)		TCAGCAGAATCACAGCCGTGAA	0.619																																						ENST00000310132.6																			0				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						c.(46-51)tgatfs		megakaryocyte-associated tyrosine kinase																																				SO:0001589	frameshift_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3785085_3785086delCA	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.48_49delTG	19.37:g.3785087_3785088delCA	ENSP00000308734:p.Cys16fs					MATK_ENST00000395045.2_Intron|MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395040.2_Intron	p.CD16fs	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	446_447	-		Hepatocellular(1079;0.137)	16					B3KNZ9|Q9NST8	Frame_Shift_Del	DEL	ENST00000310132.6	37	c.48_49delTG	CCDS12114.1																																																																																				0.619	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		23	43						23	43	---	---	---	---	-	3785086	CA	-	3785085	7	5	376	1	0	1	0	1	0	0	0	0	9332	826	29	0	1526	0	MATK	19	3785085	Frame_Shift_Del	DEL	CA	TCGA-P5-A77X-01A-11D-A32B-08		3785085	55343898	42	34435											
CYP4F11	57834	broad.mit.edu	37	chr19	16040277	16040277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgggtacctgaggcactGgtgataggccggataatgtc	15	9	0	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:16040277G>A	ENST00000402119.4	-	2	759	c.333C>T	c.(331-333)acC>acT	p.T111T	CYP4F11_ENST00000248041.8_Silent_p.T111T|CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000326742.8_Silent_p.T111T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGAGGCACTGGTGATAGGCC	0.582																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(331-333)acC>acT		cytochrome P450, family 4, subfamily F, polypeptide 11							133	135	134					19																	16040277		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040277G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.333C>T	19.37:g.16040277G>A						CYP4F11_ENST00000248041.7_Silent_p.T111T|CYP4F11_ENST00000402119.3_Silent_p.T111T	p.T111T			Q9HBI6	CP4FB_HUMAN			2	334	-			111						Silent	SNP	ENST00000402119.4	37	c.333C>T	CCDS12337.1																																																																																				0.582	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		61	101	0	0	0	1	0	61	101					A	16040277	G	A	16040277	2	1	376	1	0	0	0	0	0	0	0	1	4186	1335	47	2		2	CYP4F11	19	16040277	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	12255192	16040277	43088706	43	34436											
CIC	23152	broad.mit.edu	37	chr19	42795543	42795544	+	Frame_Shift_Del	DEL	AA	AA	-													cgggcacttccaccaacggcAaagtcctggctgccactgca							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:42795543_42795544delAA	ENST00000575354.2	+	10	2663_2664	c.2623_2624delAA	c.(2623-2625)aaafs	p.K875fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.K1784fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	875	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)				CACCAACGGCAAAGTCCTGGCT	0.683			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5350-5352)afs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795543_42795544delAA	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.2623_2624delAA	19.37:g.42795543_42795544delAA	ENSP00000458663:p.Lys875fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K875fs	p.K1784fs			Q96RK0	CIC_HUMAN			11	5418_5419	+		Prostate(69;0.00682)	875					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5350_5351delAA	CCDS12601.1																																																																																				0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	19						21	19	---	---	---	---	-	42795544	AA	-	42795543	7	5	376	1	0	1	0	1	0	0	0	0	3424	131	5	0	2661	0	CIC	19	42795543	Frame_Shift_Del	DEL	AA	TCGA-P5-A77X-01A-11D-A32B-08	26755266	42795543	16333440	44	34437											
BIRC7	79444	broad.mit.edu	37	chr20	61867458	61867458	+	Frame_Shift_Del	DEL	A	A	-													gtgttccctccatgggacctAaagacagtgccaagtgcctg							TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr20:61867458delA	ENST00000217169.3	+	1	224	c.10delA	c.(10-12)aaafs	p.K4fs	MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_5'Flank|BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	4					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CATGGGACCTAAAGACAGTGC	0.627																																						ENST00000217169.3																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(10-12)aafs		baculoviral IAP repeat containing 7							13	11	12					20																	61867458		2178	4283	6461	SO:0001589	frameshift_variant	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61867458delA	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	13702	protein-coding gene	gene with protein product	"melanoma inhibitor of apoptosis protein", "kidney inhibitor of apoptosis protein", "livin inhibitor-of-apoptosis", "livin"	605737	"baculoviral IAP repeat-containing 7"			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.10delA	20.37:g.61867458delA	ENSP00000217169:p.Lys4fs					BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs	p.K4fs	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			1	224	+	all_cancers(38;2.72e-09)		4					Q9BQV0|Q9H2A8|Q9HAP7	Frame_Shift_Del	DEL	ENST00000217169.3	37	c.10delA	CCDS13513.1																																																																																				0.627	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		2	4						2	4	---	---	---	---	-	61867458	A	-	61867458	7	5	376	1	0	1	0	1	0	0	0	0	1439	363	13	0	12	0	BIRC7	20	61867458	Frame_Shift_Del	DEL	A	TCGA-P5-A77X-01A-11D-A32B-08		61867458	1158062	45	34438											
COL6A2	1292	broad.mit.edu	37	chr21	47545900	47545900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccggcgccagaagacacGtgtgtttgcggtggtcatca	15	10	2	2	rs145450812		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr21:47545900G>A	ENST00000300527.4	+	26	2275	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	724	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> C. {ECO:0000269|PubMed:15689448}.		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)		CAGAAGACACGTGTGTTTGCG	0.642																																						ENST00000300527.4																			0				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						c.(2170-2172)cGt>cAt		collagen, type VI, alpha 2							76	74	75					21																	47545900		2203	4300	6503	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545900G>A	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.2171G>A	21.37:g.47545900G>A	ENSP00000300527:p.Arg724His					COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H	p.R724H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2275	+	Breast(49;0.245)		724		R -> C.	Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2171G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917649	0.33815	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	4.05	2.16	0.27623	von Willebrand factor, type A (3);	0.421976	0.24094	N	0.041618	T	0.81351	0.4804	L	0.43923	1.385	0.25069	N	0.99101	D;D;D	0.71674	0.998;0.957;0.957	P;B;B	0.55260	0.772;0.205;0.205	T	0.71407	-0.4602	10	0.87932	D	0	-16.0833	6.96	0.24591	0.3463:0.0:0.6537:0.0	.	724;724;724	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	724	ENSP00000300527:R724H;ENSP00000350497:R724H;ENSP00000312529:R724H;ENSP00000387115:R724H;ENSP00000380870:R724H	ENSP00000300527:R724H	R	+	2	0	COL6A2	46370328	0.703000	0.27826	0.986000	0.45419	0.402000	0.30811	2.812000	0.47994	1.808000	0.52836	0.491000	0.48974	CGT		0.642	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			15	61	0	0	0	1	0	15	61					A	47545900	G	A	47545900	3	1	376	1	0	0	0	0	1	0	0	0	3700	1145	40	1	2269	1	COL6A2	21	47545900	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		47545900	583995	46	34439											
C22orf28	51493	broad.mit.edu	37	chr22	32804799	32804799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatttctccagagcatcatTcacatagaaaacaccttcaa	3	12	4	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:32804799T>C	ENST00000216038.5	-	2	213	c.115A>G	c.(115-117)Aat>Gat	p.N39D	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Missense_Mutation_p.N39D	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		AGAGCATCATTCACATAGAAA	0.438																																						ENST00000216038.5																			0											c.(115-117)Aat>Gat		RNA 2',3'-cyclic phosphate and 5'-OH ligase							200	154	170					22																	32804799		2203	4300	6503	SO:0001583	missense	51493							g.chr22:32804799T>C	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.115A>G	22.37:g.32804799T>C	ENSP00000216038:p.Asn39Asp					RTCB_ENST00000451746.2_Missense_Mutation_p.N39D	p.N39D	NM_014306.4	NP_055121.1					2	213	-									Missense_Mutation	SNP	ENST00000216038.5	37	c.115A>G	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322090	0.41096	.	.	ENSG00000100220	ENST00000216038;ENST00000451746	T;T	0.28895	1.59;1.59	5.9	5.9	0.94986	.	0.087284	0.85682	D	0.000000	T	0.27594	0.0678	L	0.43923	1.385	0.80722	D	1	B	0.17667	0.023	B	0.24269	0.052	T	0.09487	-1.0672	10	0.08179	T	0.78	-22.713	16.3245	0.82970	0.0:0.0:0.0:1.0	.	39	Q9Y3I0	RTCB_HUMAN	D	39	ENSP00000216038:N39D;ENSP00000413466:N39D	ENSP00000216038:N39D	N	-	1	0	C22orf28	31134799	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.763000	0.85283	2.254000	0.74563	0.460000	0.39030	AAT		0.438	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		3	60	0	0	0	1	0	3	60					C	32804799	T	C	32804799	3	2	376	1	0	0	0	0	1	0	0	0	2140	1783	62	3	1446	3	C22orf28	22	32804799	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08		32804799	18499767	47	34440											
RBM9	23543	broad.mit.edu	37	chr22	36177682	36177682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcagggtcccggaagcGgaaaggaatattagagacat	15	6	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:36177682G>A	ENST00000438146.2	-	4	573	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RBFOX2_ENST00000397303.2_Missense_Mutation_p.R102C|RBFOX2_ENST00000416721.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R101C|RBFOX2_ENST00000405409.2_Missense_Mutation_p.R122C|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R121C|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R121C	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	131	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						TCCCGGAAGCGGAAAGGAATA	0.448																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(364-366)Cgc>Tgc		RNA binding protein, fox-1 homolog (C. elegans) 2							153	162	159					22																	36177682		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36177682G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.574C>T	22.37:g.36177682G>A	ENSP00000413035:p.Arg192Cys					RBFOX2_ENST00000416721.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000414461.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000262829.7_Missense_Mutation_p.R121C|RBFOX2_ENST00000359369.4_Missense_Mutation_p.R101C|RBFOX2_ENST00000397303.2_Missense_Mutation_p.R102C|RBFOX2_ENST00000449924.2_Missense_Mutation_p.R121C|RBFOX2_ENST00000438146.2_Missense_Mutation_p.R192C	p.R122C	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			3	732	-			131			RRM.	Interaction with RNA (By similarity).	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.364C>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430872	0.83776	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T;T;T	0.74737	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;-0.87;0.93	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	L	0.46157	1.445	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;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.998;0.997;0.996;0.996;0.99;0.99;0.994;0.994	D	0.84635	0.0692	10	0.87932	D	0	.	19.6891	0.95991	0.0:0.0:1.0:0.0	.	101;131;191;192;121;121;122;121;121;102	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	C	122;131;121;121;121;102;101;121;192;144;101	ENSP00000384944:R122C;ENSP00000407855:R121C;ENSP00000391670:R121C;ENSP00000262829:R121C;ENSP00000380470:R102C;ENSP00000352328:R101C;ENSP00000405651:R121C;ENSP00000413035:R192C;ENSP00000386177:R144C;ENSP00000380472:R101C	ENSP00000262829:R121C	R	-	1	0	RBFOX2	34507628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.914000	0.48797	2.641000	0.89580	0.650000	0.86243	CGC		0.448	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			5	267	0	0	0	1	0	5	267					A	36177682	G	A	36177682	3	1	376	1	0	0	0	0	1	0	0	0	13147	1116	39	1	835	1	RBM9	22	36177682	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	3372883	36177682	15126884	48	34441											
EP300	2033	broad.mit.edu	37	chr22	41513608	41513608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaacacagggatgaatgCgggcatgaatcctggaatgt	13	6	0	3	rs533349187		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:41513608C>T	ENST00000263253.7	+	2	1731	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	171					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						GGGATGAATGCGGGCATGAAT	0.502			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		24740	0.0		0.0	False		,,,				2504	0.0					ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				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						c.(511-513)gCg>gTg		E1A binding protein p300							106	87	93					22																	41513608		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513608C>T	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.512C>T	22.37:g.41513608C>T	ENSP00000263253:p.Ala171Val						p.A171V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			2	1731	+			171					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.512C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582514	0.86748	.	.	ENSG00000100393	ENST00000263253	D	0.83992	-1.79	6.17	5.13	0.70059	.	0.000000	0.48286	D	0.000193	D	0.86331	0.5907	L	0.58101	1.795	0.45025	D	0.998042	D	0.69078	0.997	P	0.58620	0.842	D	0.84708	0.0732	10	0.30854	T	0.27	-9.0902	12.9243	0.58252	0.0:0.9216:0.0:0.0784	.	171	Q09472	EP300_HUMAN	V	171	ENSP00000263253:A171V	ENSP00000263253:A171V	A	+	2	0	EP300	39843554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.508000	0.53378	1.534000	0.49203	-0.345000	0.07892	GCG		0.502	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		3	50	0	0	0	1	0	3	50					T	41513608	C	T	41513608	3	4	376	1	0	0	0	0	1	0	0	0	5148	768	27	1	518	1	EP300	22	41513608	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	5335926	41513608	9790958	49	34442											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29414470	29414470	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatgaagtattttgaaaAagctgaacttagcaaaagca	8	5	0	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:29414470A>C	ENST00000378993.1	+	4	1131	c.458A>C	c.(457-459)aAa>aCa	p.K153T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	153	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATTTTGAAAAAGCTGAACTT	0.393																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(457-459)aAa>aCa		interleukin 1 receptor accessory protein-like 1							100	94	96					X																	29414470		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414470A>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.458A>C	X.37:g.29414470A>C	ENSP00000368278:p.Lys153Thr					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T	p.K153T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			4	1131	+			153			Ig-like C2-type 2.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.458A>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327270	0.60743	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.03982	3.74;3.74	5.12	5.12	0.69794	Immunoglobulin subtype (1);	0.054525	0.64402	D	0.000001	T	0.20780	0.0500	M	0.78223	2.4	0.40711	D	0.982575	D	0.76494	0.999	D	0.76071	0.987	T	0.00896	-1.1523	9	.	.	.	.	13.3041	0.60342	1.0:0.0:0.0:0.0	.	153	Q9NZN1	IRPL1_HUMAN	T	153	ENSP00000368278:K153T;ENSP00000305200:K153T	.	K	+	2	0	IL1RAPL1	29324391	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.104000	0.77024	1.804000	0.52760	0.417000	0.27973	AAA		0.393	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		6	97	0	0	0	1	0	6	97					C	29414470	A	C	29414470	3	2	376	1	0	0	0	0	1	0	0	0	7661	14	1	5	468	5	IL1RAPL1	23	29414470	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		29414470	125856090	50	34443											
SHROOM4	57477	broad.mit.edu	37	chrX	50377747	50377747	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggacagagtccactggtgCccatcctgtacgggtgggag	17	10	0	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:50377747C>A	ENST00000289292.7	-	4	1609	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	SHROOM4_ENST00000460112.3_Silent_p.G326G|SHROOM4_ENST00000376020.2_Silent_p.G442G			Q9ULL8	SHRM4_HUMAN	shroom family member 4	442					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)					TCCACTGGTGCCCATCCTGTA	0.577																																						ENST00000376020.2																			0				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						c.(1324-1326)ggG>ggT		shroom family member 4							66	54	58					X																	50377747		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377747C>A	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.1326G>T	X.37:g.50377747C>A						SHROOM4_ENST00000289292.7_Silent_p.G442G|SHROOM4_ENST00000460112.3_Silent_p.G326G	p.G442G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1351	-	Ovarian(276;0.236)		442					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.1326G>T	CCDS35277.1																																																																																				0.577	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		19	35	1	0	8.34094e-07	1	8.34094e-07	19	35					A	50377747	C	A	50377747	2	1	376	1	0	0	0	0	0	0	0	1	14296	726	26	4		4	SHROOM4	23	50377747	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	20963277	50377747	104892813	51	34444											
GUCY2F	2986	broad.mit.edu	37	chrX	108719067	108719067	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagaaggcacaagcaccaCaggaacttggcagatgcaag	12	10	0	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:108719067C>A	ENST00000218006.2	-	2	390	c.99G>T	c.(97-99)ctG>ctT	p.L33L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	33					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAAGCACCACAGGAACTTGG	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(97-99)ctG>ctT		guanylate cyclase 2F, retinal							91	79	83					X																	108719067		2203	4300	6503	SO:0001819	synonymous_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719067C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.99G>T	X.37:g.108719067C>A			OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.L33L	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	390	-			33					Q9UJF1	Silent	SNP	ENST00000218006.2	37	c.99G>T	CCDS14545.1																																																																																				0.567	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		44	54	1	0	1.62957e-23	1	1.702e-23	44	54					A	108719067	C	A	108719067	2	1	376	1	0	0	0	0	0	0	0	1	6898	465	17	4		4	GUCY2F	23	108719067	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	58341320	108719067	46551493	52	34445											
IKBKG	8517	broad.mit.edu	37	chrX	153780226	153780226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccctgttggatgaatagGcacctctggaagagccaact	11	10	1	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:153780226G>A	ENST00000369606.4	+	2	463	c.9G>A	c.(7-9)agG>agA	p.R3R	IKBKG_ENST00000369601.3_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000393549.2_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000369607.1_Silent_p.R3R|IKBKG_ENST00000369609.5_Silent_p.R71R	NM_001099857.1	NP_001093327.1	Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	3					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|inflammatory response (GO:0006954)|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)|negative regulation of neuron death (GO:1901215)|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 transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular (GO:0005622)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	linear polyubiquitin binding (GO:1990450)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)	2	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)					GGATGAATAGGCACCTCTGGA	0.577																																						ENST00000393549.2																			0				endometrium(1)|lung(1)	2						c.(7-9)agG>agA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma							111	111	111					X																	153780226		2203	4300	6503	SO:0001819	synonymous_variant	8517				activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity	g.chrX:153780226G>A	AF074382	CCDS14757.1, CCDS48196.1, CCDS48197.1	Xq28	2014-09-17			ENSG00000073009	ENSG00000269335		"Zinc fingers, C2HC-type containing"	5961	protein-coding gene	gene with protein product		300248	"incontinentia pigmenti"	IP2, IP1		9751060, 10087442, 11590134	Standard	NM_001099857		Approved	IKK-gamma, NEMO, Fip3p, FIP-3, FIP3, ZC2HC9	uc011mzr.2	Q9Y6K9	OTTHUMG00000024234	ENST00000369606.4:c.9G>A	X.37:g.153780226G>A						IKBKG_ENST00000369606.4_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000369609.5_Silent_p.R71R|IKBKG_ENST00000369607.1_Silent_p.R3R|IKBKG_ENST00000369601.3_Silent_p.R3R	p.R3R			Q9Y6K9	NEMO_HUMAN			2	132	+	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)		3					Q7LBY6|Q7Z7F1	Silent	SNP	ENST00000369606.4	37	c.9G>A	CCDS14757.1																																																																																				0.577	IKBKG-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061156.2	NM_003639		12	177	0	0	0	1	0	12	177					A	153780226	G	A	153780226	2	1	376	1	0	0	0	0	0	0	0	1	7613	1194	42	2		2	IKBKG	23	153780226	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	45061159	153780226	1490334	53	34446											
ARID1A	8289	broad.mit.edu	37	chr1	27101119	27101119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaccgtgtctctgcaccCcctggcaccaatgcccagca	9	18	1	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:27101119C>T	ENST00000324856.7	+	18	4772	c.4401C>T	c.(4399-4401)ccC>ccT	p.P1467P	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1467					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)		TCTCTGCACCCCCTGGCACCA	0.612			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(4399-4401)ccC>ccT		AT rich interactive domain 1A (SWI-like)							64	67	66					1																	27101119		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101119C>T	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.4401C>T	1.37:g.27101119C>T						ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	p.P1467P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	18	4772	+		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)	1467					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4401C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	6.160	0.397681	0.11696	.	.	ENSG00000117713	ENST00000430799	T	0.03496	3.91	5.54	4.62	0.57501	.	0.251555	0.45126	D	0.000394	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00728	-1.1591	7	0.87932	D	0	-9.8683	9.907	0.41381	0.0:0.845:0.0:0.155	.	.	.	.	S	364	ENSP00000390317:P364S	ENSP00000390317:P364S	P	+	1	0	ARID1A	26973706	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.599000	0.24089	1.554000	0.49487	0.650000	0.86243	CCC		0.612	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		9	79	0	0	0	1	0	9	79					T	27101119	C	T	27101119	2	4	377	1	0	0	0	0	0	0	0	1	913	610	22	2		2	ARID1A	1	27101119	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		27101119	222149502	1	34447											
SEC22B	9554	broad.mit.edu	37	chr1	145103950	145103950	+	RNA	DEL	C	C	-													atcagagtcaggctaagtaaCtctttcgaaagttgaatgaa					rs587667932	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:145103950delC	ENST00000453618.1	+	0	445							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GGCTAAGTAACTCTTTCGAAA	0.393														3	0.000599042	0.0	0.0014	5008	,	,		50971	0.0		0.002	False		,,,				2504	0.0					ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							86	79	81					1																	145103950		1942	4145	6087			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103950delC	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103950delC										O75396	SC22B_HUMAN			0	445	+								A8K1G0	RNA	DEL	ENST00000453618.1	37																																																																																						0.393	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		7	21						7	21	---	---	---	---	-	145103950	C	-	145103950	6	5	377	0	1	1	0	1	0	0	0	0	13989	565	20	0		0	SEC22B	1	145103950	RNA	DEL	C	TCGA-P5-A780-01A-12D-A32B-08	118002831	145103950	104146671	2	34448											
SETDB1	9869	broad.mit.edu	37	chr1	150933218	150933218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggaagatggcaacagcGgtacagaggaccctgaagag	14	9	0	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:150933218G>A	ENST00000271640.5	+	16	2870	c.2680G>A	c.(2680-2682)Ggt>Agt	p.G894S	SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	894	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)			TGGCAACAGCGGTACAGAGGA	0.502																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2680-2682)Ggt>Agt		SET domain, bifurcated 1							125	114	118					1																	150933218		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933218G>A	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.2680G>A	1.37:g.150933218G>A	ENSP00000271640:p.Gly894Ser					SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	p.G894S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	2870	+	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)		894			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2680G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447124	0.84101	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.87029	-2.2;-2.2;1.26	5.58	5.58	0.84498	SET domain (3);	0.145638	0.64402	D	0.000006	D	0.83797	0.5332	N	0.11427	0.14	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.67725	0.906;0.921;0.953	D	0.84685	0.0719	10	0.32370	T	0.25	.	19.5729	0.95428	0.0:0.0:1.0:0.0	.	894;894;894	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	S	894	ENSP00000271640:G894S;ENSP00000357965:G894S;ENSP00000432348:G894S	ENSP00000271640:G894S	G	+	1	0	SETDB1	149199842	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	6.642000	0.74329	2.630000	0.89119	0.462000	0.41574	GGT		0.502	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			3	66	0	0	0	1	0	3	66					A	150933218	G	A	150933218	3	1	377	1	0	0	0	0	1	0	0	0	14138	1116	39	1	2738	1	SETDB1	1	150933218	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	5829268	150933218	98317403	3	34449											
TLR5	7100	broad.mit.edu	37	chr1	223285784	223285784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggctaaaaaaggagagcGttttcccttgtaggggctcg	14	8	0	1	rs146146738		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:223285784G>A	ENST00000540964.1	-	4	1051	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TLR5_ENST00000342210.6_Missense_Mutation_p.T197M			O60602	TLR5_HUMAN	toll-like receptor 5	197					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)		AAAGGAGAGCGTTTTCCCTTG	0.428																																						ENST00000540964.1																			0				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						c.(589-591)aCg>aTg		toll-like receptor 5		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	62	63	63		590	-6.4	0	1	dbSNP_134	63	0,8600		0,0,4300	no	missense	TLR5	NM_003268.5	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	197/859	223285784	2,13004	2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285784G>A		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.590C>T	1.37:g.223285784G>A	ENSP00000440643:p.Thr197Met					TLR5_ENST00000342210.6_Missense_Mutation_p.T197M	p.T197M			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1051	-			197					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.590C>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	7.360	0.624697	0.14193	4.54E-4	0.0	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.83837	-1.77;-1.77;-1.77	4.89	-6.37	0.01963	.	1.688310	0.03349	N	0.195916	T	0.76478	0.3993	M	0.65975	2.015	0.09310	N	1	B	0.13594	0.008	B	0.15870	0.014	T	0.55755	-0.8091	10	0.33940	T	0.23	.	3.2653	0.06863	0.3218:0.0673:0.4034:0.2075	.	197	O60602	TLR5_HUMAN	M	197	ENSP00000440643:T197M;ENSP00000355846:T197M;ENSP00000340089:T197M	ENSP00000340089:T197M	T	-	2	0	TLR5	221352407	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.867000	0.04241	-1.541000	0.01727	-0.797000	0.03246	ACG		0.428	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		10	42	0	0	0	1	0	10	42					A	223285784	G	A	223285784	3	1	377	1	0	0	0	0	1	0	0	0	15951	1145	40	1	1990	1	TLR5	1	223285784	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	72352566	223285784	25964837	4	34450											
OR2T33	391195	broad.mit.edu	37	chr1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttttatgtttacacacGtccccagccaccgtttcagg	9	12	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305						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(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTTTACACACGTCCCCAGCCA	0.423																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(913-915)aCg>aTg		olfactory receptor, family 2, subfamily T, member 33							158	158	158					1																	248436203		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436203G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.914C>T	1.37:g.248436203G>A	ENSP00000324687:p.Thr305Met						p.T305M	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	935	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		305					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.914C>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.832	-0.744874	0.03065	.	.	ENSG00000177212	ENST00000318021	T	0.36878	1.23	1.31	0.0343	0.14183	.	1.312490	0.06382	N	0.715485	T	0.18087	0.0434	N	0.19112	0.55	0.09310	N	1	P	0.41710	0.76	B	0.28139	0.086	T	0.17561	-1.0365	10	0.56958	D	0.05	.	5.206	0.15291	0.0:0.0:0.311:0.689	.	305	Q8NG76	O2T33_HUMAN	M	305	ENSP00000324687:T305M	ENSP00000324687:T305M	T	-	2	0	OR2T33	246502826	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	-0.332000	0.07904	-0.000000	0.14550	0.175000	0.17021	ACG		0.423	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		75	102	0	0	0	1	0	75	102					A	248436203	G	A	248436203	3	1	377	1	0	0	0	0	1	0	0	0	11024	1145	40	1	51	1	OR2T33	1	248436203	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	25150419	248436203	814418	5	34451											
APOB	338	broad.mit.edu	37	chr2	21263858	21263858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcttggttttcttcagcAaggctttgccctcagggttg	11	9	4	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:21263858A>C	ENST00000233242.1	-	4	462	c.335T>G	c.(334-336)tTg>tGg	p.L112W	APOB_ENST00000399256.4_Missense_Mutation_p.L112W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	112	Heparin-binding.|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)					TTTCTTCAGCAAGGCTTTGCC	0.527																																						ENST00000233242.1																			0				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						c.(334-336)tTg>tGg		apolipoprotein B	Atorvastatin(DB01076)						105	85	92					2																	21263858		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21263858A>C	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.335T>G	2.37:g.21263858A>C	ENSP00000233242:p.Leu112Trp					APOB_ENST00000399256.4_Missense_Mutation_p.L112W	p.L112W	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			4	462	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		112			Heparin-binding.|Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.335T>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578186	0.65878	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.41400	1.0;1.0	4.9	3.74	0.42951	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	0.277119	0.24167	N	0.040924	T	0.57169	0.2035	L	0.59436	1.845	0.34249	D	0.678546	D	0.89917	1.0	D	0.78314	0.991	T	0.68262	-0.5455	10	0.72032	D	0.01	.	9.9424	0.41589	0.917:0.0:0.083:0.0	.	112	P04114	APOB_HUMAN	W	112	ENSP00000233242:L112W;ENSP00000382200:L112W	ENSP00000233242:L112W	L	-	2	0	APOB	21117363	0.996000	0.38824	0.917000	0.36280	0.936000	0.57629	3.550000	0.53691	0.824000	0.34613	0.533000	0.62120	TTG		0.527	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	18	0	0	0	1	0	5	18					C	21263858	A	C	21263858	3	2	377	1	0	0	0	0	1	0	0	0	785	131	5	5	13460	5	APOB	2	21263858	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		21263858	221935515	6	34452											
TRMT61B	55006	broad.mit.edu	37	chr2	29074043	29074043	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactttttgagctaaaattcCatttttctgttttgcaaggc	6	7	1	1	rs147013173	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:29074043C>A	ENST00000306108.5	-	5	1230	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	403					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						GCTAAAATTCCATTTTTCTGT	0.363													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16676	0.0		0.001	False		,,,				2504	0.0					ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(1207-1209)Gga>Tga		tRNA methyltransferase 61 homolog B (S. cerevisiae)		C	stop/GLY	1,4405		0,1,2202	97	91	93		1207	2.9	0.8	2	dbSNP_134	93	0,8600		0,0,4300	no	stop-gained	TRMT61B	NM_017910.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		403/478	29074043	1,13005	2203	4300	6503	SO:0001587	stop_gained	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29074043C>A	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.1207G>T	2.37:g.29074043C>A	ENSP00000302801:p.Gly403*						p.G403*	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			5	1230	-			403					Q9H0Q9|Q9NWS7	Nonsense_Mutation	SNP	ENST00000306108.5	37	c.1207G>T	CCDS1768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.153442|4.153442	0.78114|0.78114	2.27E-4|2.27E-4	0.0|0.0	ENSG00000171103|ENSG00000171103	ENST00000306108|ENST00000419999	.|.	.|.	.|.	5.61|5.61	2.86|2.86	0.33363|0.33363	.|.	0.264214|.	0.28784|.	N|.	0.014153|.	.|T	.|0.39410	.|0.1077	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44757	.|-0.9307	.|3	0.48119|.	T|.	0.1|.	-16.8489|-16.8489	5.3291|5.3291	0.15922|0.15922	0.1401:0.5685:0.0:0.2914|0.1401:0.5685:0.0:0.2914	.|.	.|.	.|.	.|.	X|L	403|36	.|.	ENSP00000302801:G403X|.	G|W	-|-	1|2	0|0	TRMT61B|TRMT61B	28927547|28927547	0.980000|0.980000	0.34600|0.34600	0.847000|0.847000	0.33407|0.33407	0.831000|0.831000	0.47069|0.47069	0.280000|0.280000	0.18790|0.18790	0.334000|0.334000	0.23590|0.23590	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.363	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		17	32	1	0	4.75885e-15	1	5.08705e-15	17	32					A	29074043	C	A	29074043	4	1	377	1	0	0	0	0	0	1	0	0	16567	603	21	4	238	4	TRMT61B	2	29074043	Nonsense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	7810185	29074043	214125330	7	34453											
OSBPL6	114880	broad.mit.edu	37	chr2	179238675	179238675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtagccaatgagagccGcctctccatgtcagagtctg	11	12	3	2	rs149806664		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:179238675G>A	ENST00000190611.4	+	15	1830	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	485					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAGAGCCGCCTCTCCATG	0.483													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18230	0.0		0.0	False		,,,				2504	0.0					ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1453-1455)cGc>cAc		oxysterol binding protein-like 6		-	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	115	102	107		1529,1361,1346,1454,1466	6	1	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	510/960,454/904,449/899,485/935,489/939	179238675	1,13005	2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179238675G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1454G>A	2.37:g.179238675G>A	ENSP00000190611:p.Arg485His					OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H	p.R485H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		15	1830	+			485					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1454G>A	CCDS2277.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	29.6	5.020425	0.93462	0.0	1.16E-4	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.14640	2.64;2.63;2.49;2.64;2.63;2.63;2.63	6.01	6.01	0.97437	.	0.110517	0.64402	D	0.000009	T	0.36358	0.0964	L	0.53249	1.67	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.927;0.998;0.912;0.998;0.991;0.996	T	0.00284	-1.1848	10	0.45353	T	0.12	-7.0111	20.5258	0.99229	0.0:0.0:1.0:0.0	.	454;489;449;510;485;418	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	H	510;449;418;454;485;449;489	ENSP00000376293:R510H;ENSP00000352713:R449H;ENSP00000349591:R418H;ENSP00000387248:R454H;ENSP00000190611:R485H;ENSP00000386885:R449H;ENSP00000318723:R489H	ENSP00000190611:R485H	R	+	2	0	OSBPL6	178946921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.723000	0.74742	2.861000	0.98227	0.651000	0.88453	CGC		0.483	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		10	46	0	0	0	1	0	10	46					A	179238675	G	A	179238675	3	1	377	1	0	0	0	0	1	0	0	0	11281	1087	38	1	1626	1	OSBPL6	2	179238675	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	150164632	179238675	63960698	8	34454											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	41	0	0	0	1	0	21	41					T	209113112	C	T	209113112	3	4	377	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	29874437	209113112	34086261	9	34455											
PLCL2	23228	broad.mit.edu	37	chr3	17056281	17056281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttggcggtgtctcccCgctttctggggcccgataac	13	13	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:17056281C>T	ENST00000418129.2	+	3	2983	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C|PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	966	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTGTCTCCCCGCTTTCTGGG	0.537																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2518-2520)Cgc>Tgc		phospholipase C-like 2							157	156	157					3																	17056281		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17056281C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2518C>T	3.37:g.17056281C>T	ENSP00000409637:p.Arg840Cys					PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C|PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C	p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			3	2983	+			966			C2.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2518C>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875490	0.91664	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.20200	2.15;2.09;2.15	5.16	5.16	0.70880	.	0.111038	0.64402	D	0.000005	T	0.46092	0.1375	.	.	.	0.80722	D	1	D	0.71674	0.998	P	0.60886	0.88	T	0.48811	-0.9002	9	0.87932	D	0	.	19.0078	0.92859	0.0:1.0:0.0:0.0	.	966	Q9UPR0	PLCL2_HUMAN	C	840;967;840;840	ENSP00000409637:R840C;ENSP00000379979:R840C;ENSP00000412836:R840C	ENSP00000285094:R967C	R	+	1	0	PLCL2	17031285	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	5.935000	0.70145	2.551000	0.86045	0.655000	0.94253	CGC		0.537	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			26	140	0	0	0	1	0	26	140					T	17056281	C	T	17056281	3	4	377	1	0	0	0	0	1	0	0	0	12040	652	23	1	2900	1	PLCL2	3	17056281	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		17056281	180966149	10	34456											
SGOL1	151648	broad.mit.edu	37	chr3	20215787	20215787	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgtctctttttcatcTgtgtatttcagtgctctttt	5	12	5	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:20215787T>A	ENST00000263753.4	-	6	1375	c.1236A>T	c.(1234-1236)acA>acT	p.T412T	SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412997.1_Silent_p.T412T|SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000383774.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	412					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						CTTTTTCATCTGTGTATTTCA	0.403																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1234-1236)acA>acT		shugoshin-like 1 (S. pombe)							111	118	116					3																	20215787		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215787T>A	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.1236A>T	3.37:g.20215787T>A						SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Silent_p.T412T|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron	p.T412T	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1587	-			412					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.1236A>T	CCDS33716.1																																																																																				0.403	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		21	100	0	0	0	1	0	21	100					A	20215787	T	A	20215787	2	1	377	1	0	0	0	0	0	0	0	1	14216	1567	55	5		5	SGOL1	3	20215787	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	3159506	20215787	177806643	11	34457											
CACNA1D	776	broad.mit.edu	37	chr3	53694205	53694205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccaaagaaacagaaggCgggaaccactcaagcggcaa	10	10	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:53694205C>T	ENST00000350061.5	+	5	1180	c.669C>T	c.(667-669)ggC>ggT	p.G223G	CACNA1D_ENST00000288139.4_Silent_p.G223G|CACNA1D_ENST00000422281.2_Silent_p.G223G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	223					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAACAGAAGGCGGGAACCACT	0.458																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(667-669)ggC>ggT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						56	57	57					3																	53694205		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53694205C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.669C>T	3.37:g.53694205C>T						CACNA1D_ENST00000350061.5_Silent_p.G223G|CACNA1D_ENST00000422281.2_Silent_p.G223G	p.G223G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	5	787	+			223					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.669C>T	CCDS46848.1																																																																																				0.458	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		17	31	0	0	0	1	0	17	31					T	53694205	C	T	53694205	2	4	377	1	0	0	0	0	0	0	0	1	2541	755	27	1		1	CACNA1D	3	53694205	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	33478418	53694205	144328225	12	34458											
CENPE	1062	broad.mit.edu	37	chr4	104030019	104030019	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggatgaggtgatggtaaaGactttgatcggctatcaaaa	12	5	1	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr4:104030019G>C	ENST00000265148.3	-	48	8041	c.7952C>G	c.(7951-7953)tCt>tGt	p.S2651C	CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2651	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)	p.S2614Y(1)		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)		TGATGGTAAAGACTTTGATCG	0.378																																						ENST00000265148.3																			1	Substitution - Missense(1)	p.S2614Y(1)	large_intestine(1)	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						c.(7951-7953)tCt>tGt		centromere protein E, 312kDa							154	151	152					4																	104030019		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104030019G>C	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.7952C>G	4.37:g.104030019G>C	ENSP00000265148:p.Ser2651Cys					CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	p.S2651C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	48	8041	-			2651			Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7952C>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974945	0.53720	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.70399	-0.48;-0.47	5.19	5.19	0.71726	.	.	.	.	.	T	0.81856	0.4911	M	0.61703	1.905	0.31707	N	0.640029	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.83080	-0.0138	9	0.59425	D	0.04	.	14.2305	0.65890	0.0:0.0:1.0:0.0	.	2530;2651	Q02224-3;Q02224	.;CENPE_HUMAN	C	2651;2530	ENSP00000265148:S2651C;ENSP00000369365:S2530C	ENSP00000265148:S2651C	S	-	2	0	CENPE	104249468	1.000000	0.71417	0.990000	0.47175	0.368000	0.29767	3.330000	0.52068	2.418000	0.82041	0.655000	0.94253	TCT		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	74	0	0	0	1	0	9	74					C	104030019	G	C	104030019	3	2	377	1	0	0	0	0	1	0	0	0	3230	942	33	4	161	4	CENPE	4	104030019	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		104030019	87124257	13	34459											
MAP1B	4131	broad.mit.edu	37	chr5	71493378	71493378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagttttgtctcctttacGcagcccgcccctcattggat	7	13	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:71493378G>A	ENST00000296755.7	+	5	4494	c.4196G>A	c.(4195-4197)cGc>cAc	p.R1399H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1399					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)		TCTCCTTTACGCAGCCCGCCC	0.478																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(4195-4197)cGc>cAc		microtubule-associated protein 1B							49	51	50					5																	71493378		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493378G>A	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.4196G>A	5.37:g.71493378G>A	ENSP00000296755:p.Arg1399His						p.R1399H	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4494	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1399					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4196G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962906	0.53507	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.09862	0.0242	N	0.24115	0.695	0.43930	D	0.996588	D;D	0.89917	1.0;1.0	P;P	0.62435	0.902;0.902	T	0.14643	-1.0465	10	0.66056	D	0.02	-11.3188	19.5099	0.95137	0.0:0.0:1.0:0.0	.	1273;1399	A2BDK6;P46821	.;MAP1B_HUMAN	H	1399	ENSP00000296755:R1399H	ENSP00000296755:R1399H	R	+	2	0	MAP1B	71529134	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	4.998000	0.63927	2.627000	0.88993	0.561000	0.74099	CGC		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	57	0	0	0	1	0	4	57					A	71493378	G	A	71493378	3	1	377	1	0	0	0	0	1	0	0	0	9228	1087	38	1	4214	1	MAP1B	5	71493378	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		71493378	109421882	14	34460											
PCDHB3	56132	broad.mit.edu	37	chr5	140481350	140481350	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgttttcagtgtttctgatCtagactctggagacaacgga	10	8	4	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:140481350C>G	ENST00000231130.2	+	1	1117	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	373	Cadherin 4. {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)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCTGATCTAGACTCTGG	0.458																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1117-1119)Cta>Gta									91	86	88					5																	140481350		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481350C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1117C>G	5.37:g.140481350C>G	ENSP00000231130:p.Leu373Val					AC005754.7_ENST00000607216.1_RNA	p.L373V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1117	+			373			Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1117C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	7.788	0.711020	0.15239	.	.	ENSG00000113205	ENST00000231130	T	0.51817	0.69	4.93	1.52	0.23074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45677	0.1354	M	0.67953	2.075	0.09310	N	1	B	0.26708	0.157	B	0.33121	0.158	T	0.46105	-0.9215	9	0.54805	T	0.06	.	5.9342	0.19156	0.1437:0.6636:0.0:0.1927	.	373	Q9Y5E6	PCDB3_HUMAN	V	373	ENSP00000231130:L373V	ENSP00000231130:L373V	L	+	1	2	PCDHB3	140461534	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	-0.861000	0.04268	0.047000	0.15862	-0.181000	0.13052	CTA		0.458	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		11	42	0	0	0	1	0	11	42					G	140481350	C	G	140481350	3	3	377	1	0	0	0	0	1	0	0	0	11543	912	32	4	1119	4	PCDHB3	5	140481350	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	68987972	140481350	40433910	15	34461											
FHL5	9457	broad.mit.edu	37	chr6	97051578	97051578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacagtccatactgtgTtacatgttatgatcgtgtat	10	6	0	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:97051578T>C	ENST00000326771.2	+	3	469	c.89T>C	c.(88-90)gTt>gCt	p.V30A	FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	30					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCATACTGTGTTACATGTTAT	0.353																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(88-90)gTt>gCt		four and a half LIM domains 5							178	154	162					6																	97051578		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051578T>C	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.89T>C	6.37:g.97051578T>C	ENSP00000326022:p.Val30Ala					FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	469	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	30					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.89T>C	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	T	8.545	0.874135	0.17395	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87571	-2.27;-2.27;-2.27	5.65	4.47	0.54385	Zinc finger, LIM-type (1);	0.374606	0.19499	N	0.112770	T	0.72985	0.3529	L	0.48642	1.525	0.09310	N	1	B	0.31730	0.337	B	0.26094	0.066	T	0.70525	-0.4848	10	0.72032	D	0.01	.	11.865	0.52488	0.0:0.0699:0.0:0.9301	.	30	Q5TD97	FHL5_HUMAN	A	30	ENSP00000442357:V30A;ENSP00000326022:V30A;ENSP00000396390:V30A	ENSP00000326022:V30A	V	+	2	0	FHL5	97158299	0.027000	0.19231	0.212000	0.23672	0.010000	0.07245	2.247000	0.43151	2.140000	0.66376	0.482000	0.46254	GTT		0.353	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		3	73	0	0	0	1	0	3	73					C	97051578	T	C	97051578	3	2	377	1	0	0	0	0	1	0	0	0	5881	1725	60	3	91	3	FHL5	6	97051578	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		97051578	74063489	16	34462											
ROS1	6098	broad.mit.edu	37	chr6	117681518	117681518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatacctgatgttgtagaCtttacaacgtcagcatatgg	8	8	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:117681518C>A	ENST00000368508.3	-	22	3630	c.3432G>T	c.(3430-3432)aaG>aaT	p.K1144N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1144	Fibronectin type-III 5. {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)		ATGTTGTAGACTTTACAACGT	0.413			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(3430-3432)aaG>aaT		c-ros oncogene 1 , receptor tyrosine kinase							80	75	77					6																	117681518		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681518C>A	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.3432G>T	6.37:g.117681518C>A	ENSP00000357494:p.Lys1144Asn					ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N|GOPC_ENST00000467125.1_Intron	p.K1144N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	22	3630	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1144			Fibronectin type-III 5.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3432G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	3.262	-0.150980	0.06585	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53206	0.63;0.63	5.14	0.173	0.15036	.	0.489617	0.20458	N	0.091949	T	0.09335	0.0230	L	0.27053	0.805	0.09310	N	0.999997	B	0.28128	0.201	B	0.24701	0.055	T	0.35051	-0.9804	10	0.11485	T	0.65	.	5.2161	0.15344	0.1309:0.5007:0.0:0.3684	.	1144	P08922	ROS1_HUMAN	N	1144;1139	ENSP00000357494:K1144N;ENSP00000357493:K1139N	ENSP00000357493:K1139N	K	-	3	2	ROS1	117788211	0.771000	0.28555	0.410000	0.26471	0.657000	0.38888	0.105000	0.15333	0.021000	0.15133	-0.140000	0.14226	AAG		0.413	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			3	34	1	0	0.004672	1	0.00477468	3	34					A	117681518	C	A	117681518	3	1	377	1	0	0	0	0	1	0	0	0	13531	564	20	4	3699	4	ROS1	6	117681518	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	20629940	117681518	53433549	17	34463											
IPCEF1	26034	broad.mit.edu	37	chr6	154567848	154567848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccttggcagtcagcatgGcccagatctttacacgatat	8	13	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:154567848G>A	ENST00000265198.4	-	5	275	c.120C>T	c.(118-120)ggC>ggT	p.G40G	IPCEF1_ENST00000519344.1_Silent_p.G12G|OPRM1_ENST00000337049.4_Missense_Mutation_p.A396T|IPCEF1_ENST00000367220.4_Silent_p.G41G|IPCEF1_ENST00000422970.2_Silent_p.G41G	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	40					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AGTCAGCATGGCCCAGATCTT	0.433																																						ENST00000337049.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1186-1188)Gcc>Acc		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						153	134	140					6																	154567848		2203	4300	6503	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154567848G>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.120C>T	6.37:g.154567848G>A						IPCEF1_ENST00000367220.4_Silent_p.G41G|IPCEF1_ENST00000519344.1_Silent_p.G12G|IPCEF1_ENST00000265198.4_Silent_p.G40G|IPCEF1_ENST00000422970.2_Silent_p.G41G	p.A396T	NM_001008503.1	NP_001008503.2	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1236	+		Ovarian(120;0.196)	0					A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.1186G>A	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559503	0.45590	.	.	ENSG00000112038	ENST00000337049	T	0.69926	-0.44	5.51	-0.691	0.11305	.	.	.	.	.	T	0.30603	0.0770	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18147	-1.0346	8	0.59425	D	0.04	-12.9292	1.7359	0.02941	0.109:0.2554:0.2479:0.3877	.	396	P35372-5	.	T	396	ENSP00000338381:A396T	ENSP00000338381:A396T	A	+	1	0	OPRM1	154609540	0.647000	0.27304	0.972000	0.41901	0.982000	0.71751	-0.272000	0.08560	-0.370000	0.08016	-0.410000	0.06199	GCC		0.433	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		34	55	0	0	0	1	0	34	55					A	154567848	G	A	154567848	2	1	377	1	0	0	0	0	0	0	0	1	7791	1203	42	2		2	IPCEF1	6	154567848	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	36886330	154567848	16547219	18	34464											
SERAC1	84947	broad.mit.edu	37	chr6	158576366	158576366	+	Frame_Shift_Del	DEL	T	T	-													ccctaaaataagtgatccagTaaactttattatatttcctt							TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:158576366delT	ENST00000367104.3	-	3	240	c.109delA	c.(109-111)actfs	p.T37fs	SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367102.2_Frame_Shift_Del_p.T37fs	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	37					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGTGATCCAGTAAACTTTATT	0.318																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(109-111)ctfs		serine active site containing 1							66	59	62					6																	158576366		2199	4298	6497	SO:0001589	frameshift_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158576366delT	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.109delA	6.37:g.158576366delT	ENSP00000356071:p.Thr37fs					SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.T37fs	p.T37fs			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	3	250	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	37					Q49AT1|Q5VTX3|Q6PKF3	Frame_Shift_Del	DEL	ENST00000367104.3	37	c.109delA	CCDS5255.1																																																																																				0.318	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		2	4						2	4	---	---	---	---	-	158576366	T	-	158576366	7	5	377	1	0	1	0	1	0	0	0	0	14074	1638	57	0	1915	0	SERAC1	6	158576366	Frame_Shift_Del	DEL	T	TCGA-P5-A780-01A-12D-A32B-08	4008518	158576366	12538701	19	34465											
SAMD9	54809	broad.mit.edu	37	chr7	92734114	92734114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagcaaaccatttaatttCcttcaggaaatctaagtgtt	5	8	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:92734114C>T	ENST00000379958.2	-	3	1566	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	433						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)			CATTTAATTTCCTTCAGGAAA	0.353																																						ENST00000379958.2																			0				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						c.(1297-1299)Gaa>Aaa		sterile alpha motif domain containing 9							43	44	43					7																	92734114		2202	4300	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92734114C>T	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.1297G>A	7.37:g.92734114C>T	ENSP00000369292:p.Glu433Lys						p.E433K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1566	-	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)		433					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1297G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590245	0.66105	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13420	2.59;2.59	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000012	T	0.35158	0.0922	M	0.72118	2.19	0.36322	D	0.858321	D	0.89917	1.0	D	0.69654	0.965	T	0.47711	-0.9096	10	0.66056	D	0.02	-14.6179	15.2828	0.73801	0.0:1.0:0.0:0.0	.	433	Q5K651	SAMD9_HUMAN	K	433	ENSP00000369292:E433K;ENSP00000414529:E433K	ENSP00000369292:E433K	E	-	1	0	SAMD9	92572050	0.970000	0.33590	1.000000	0.80357	0.976000	0.68499	2.303000	0.43646	2.246000	0.74042	0.603000	0.83216	GAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		17	17	0	0	0	1	0	17	17					T	92734114	C	T	92734114	3	4	377	1	0	0	0	0	1	0	0	0	13826	864	30	2	3476	2	SAMD9	7	92734114	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		92734114	66404549	20	34466											
COL1A2	1278	broad.mit.edu	37	chr7	94041967	94041967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagcctggcaacatTggattccctggacccaaagg	13	10	0	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:94041967T>C	ENST00000297268.6	+	25	1947	c.1476T>C	c.(1474-1476)atT>atC	p.I492I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	492					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)	CTGGCAACATTGGATTCCCTG	0.498										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				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						c.(1474-1476)atT>atC		collagen, type I, alpha 2	Collagenase(DB00048)						54	53	53					7																	94041967		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94041967T>C	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.1476T>C	7.37:g.94041967T>C		HNSCC(75;0.22)					p.I492I	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		25	1947	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		492					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.1476T>C	CCDS34682.1																																																																																				0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		5	27	0	0	0	1	0	5	27					C	94041967	T	C	94041967	2	2	377	1	0	0	0	0	0	0	0	1	3678	1800	63	3		3	COL1A2	7	94041967	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	1307853	94041967	65096696	21	34467											
NPTX2	4885	broad.mit.edu	37	chr7	98256572	98256572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgggaggcattccaggaCggagagaagctgggcactgg	18	7	0	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.D328D(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)gaC>gaT		neuronal pentraxin II							99	81	87					7																	98256572		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256572C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.984C>T	7.37:g.98256572C>T							p.D328D	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1149	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		328			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.984C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	54	0	0	0	1	0	4	54					T	98256572	C	T	98256572	2	4	377	1	0	0	0	0	0	0	0	1	10603	535	19	1		1	NPTX2	7	98256572	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	4214605	98256572	60882091	22	34468											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558563	113558563	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgtgtctgccagtcatcTaaagacattcttacatatac	5	9	4	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:113558563T>C	ENST00000284601.3	-	1	557	c.489A>G	c.(487-489)ttA>ttG	p.L163L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	163	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				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						GCCAGTCATCTAAAGACATTC	0.358																																						ENST00000284601.3																			0				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						c.(487-489)ttA>ttG		protein phosphatase 1, regulatory subunit 3A							81	79	80					7																	113558563		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558563T>C	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.489A>G	7.37:g.113558563T>C							p.L163L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	557	-			163			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.489A>G	CCDS5759.1																																																																																				0.358	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		11	38	0	0	0	1	0	11	38					C	113558563	T	C	113558563	2	2	377	1	0	0	0	0	0	0	0	1	12371	1519	53	3		3	PPP1R3A	7	113558563	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	15301991	113558563	45580100	23	34469											
RNF133	168433	broad.mit.edu	37	chr7	122338418	122338418	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accaaatagtgattcatccaGatgatgtgctttctccccac	6	12	2	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:122338418G>C	ENST00000340112.2	-	1	792	c.555C>G	c.(553-555)atC>atG	p.I185M	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	185					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GATTCATCCAGATGATGTGCT	0.373																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(553-555)atC>atG		ring finger protein 133							128	113	118					7																	122338418		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338418G>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.555C>G	7.37:g.122338418G>C	ENSP00000344489:p.Ile185Met					CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	p.I185M	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	792	-			185					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.555C>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183732	0.57800	.	.	ENSG00000188050	ENST00000340112	T	0.14144	2.53	5.62	4.73	0.59995	.	0.173328	0.38663	U	0.001610	T	0.23054	0.0557	L	0.51422	1.61	0.80722	D	1	D	0.54601	0.967	P	0.58454	0.839	T	0.01409	-1.1362	10	0.34782	T	0.22	.	8.3709	0.32415	0.083:0.0:0.7622:0.1547	.	185	Q8WVZ7	RN133_HUMAN	M	185	ENSP00000344489:I185M	ENSP00000344489:I185M	I	-	3	3	RNF133	122125654	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.548000	0.45794	1.344000	0.45657	0.561000	0.74099	ATC		0.373	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		27	122	0	0	0	1	0	27	122					C	122338418	G	C	122338418	3	2	377	1	0	0	0	0	1	0	0	0	13439	932	33	4	579	4	RNF133	7	122338418	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	8779855	122338418	36800245	24	34470											
SPAM1	6677	broad.mit.edu	37	chr7	123594538	123594538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtttttgcatatacccGcatagtttttactgatcaag	7	9	1	1	rs150235912		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:123594538G>A	ENST00000439500.1	+	4	1527	c.914G>A	c.(913-915)cGc>cAc	p.R305H	SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000340011.5_Missense_Mutation_p.R305H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	305					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCATATACCCGCATAGTTTTT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17440	0.0		0.0	False		,,,				2504	0.0					ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(913-915)cGc>cAc		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	6,4400	9.9+/-24.2	0,6,2197	34	34	34		914,914,914,914,914	4.4	0.5	7	dbSNP_134	34	0,8596		0,0,4298	yes	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	29,29,29,29,29	0,6,6495	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	305/510,305/510,305/510,305/512,305/510	123594538	6,12996	2203	4298	6501	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594538G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.914G>A	7.37:g.123594538G>A	ENSP00000402123:p.Arg305His					SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000439500.1_Missense_Mutation_p.R305H	p.R305H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1271	+			305					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.914G>A	CCDS5791.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.54	3.414600	0.62511	0.001362	0.0	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	6.17	4.38	0.52667	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.105283	0.64402	N	0.000004	T	0.62684	0.2448	H	0.95504	3.68	0.51012	D	0.999907	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74213	-0.3738	9	.	.	.	-25.9732	13.7218	0.62732	0.0931:0.0:0.9069:0.0	.	305;305	Q8TC30;P38567	.;HYALP_HUMAN	H	305	ENSP00000386028:R305H;ENSP00000417934:R305H;ENSP00000345849:R305H;ENSP00000402123:R305H;ENSP00000223028:R305H	.	R	+	2	0	SPAM1	123381774	1.000000	0.71417	0.534000	0.28014	0.060000	0.15804	4.735000	0.62051	0.945000	0.37605	0.655000	0.94253	CGC		0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			4	41	0	0	0	1	0	4	41					A	123594538	G	A	123594538	3	1	377	1	0	0	0	0	1	0	0	0	14986	1087	38	1	916	1	SPAM1	7	123594538	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	1256120	123594538	35544125	25	34471											
OR2A25	392138	broad.mit.edu	37	chr7	143771700	143771700	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatctgccaccctctcCgatattctaccatcatgacc	5	17	4	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:143771700C>T	ENST00000408898.2	+	1	426	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACCCTCTCCGATATTCTAC	0.463																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(388-390)Cga>Tga		olfactory receptor, family 2, subfamily A, member 25							141	144	143					7																	143771700		2199	4300	6499	SO:0001587	stop_gained	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771700C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.388C>T	7.37:g.143771700C>T	ENSP00000386167:p.Arg130*						p.R130*	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	426	+	Melanoma(164;0.0783)		130					B2RNC9	Nonsense_Mutation	SNP	ENST00000408898.2	37	c.388C>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527686	0.64860	.	.	ENSG00000221933	ENST00000408898	.	.	.	4.69	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	0.2207	7.4513	0.27240	0.175:0.7286:0.0:0.0963	.	.	.	.	X	130	.	ENSP00000386167:R130X	R	+	1	2	OR2A25	143402633	0.031000	0.19500	0.362000	0.25862	0.585000	0.36419	0.673000	0.25203	1.194000	0.43101	0.563000	0.77884	CGA		0.463	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			40	93	0	0	0	1	0	40	93					T	143771700	C	T	143771700	4	4	377	1	0	0	0	0	0	1	0	0	10978	644	23	1	390	1	OR2A25	7	143771700	Nonsense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	20177162	143771700	15366963	26	34472											
MSRA	4482	broad.mit.edu	37	chr8	9912035	9912035	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggcgccctcccatgctctcGgccacccggagggcttgcca	12	18	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:9912035G>C	ENST00000317173.4	+	1	258	c.9G>C	c.(7-9)tcG>tcC	p.S3S	MSRA_ENST00000441698.2_Silent_p.S3S|MSRA_ENST00000518255.1_Silent_p.S3S|RP11-1E4.1_ENST00000562143.1_RNA	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	3					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCATGCTCTCGGCCACCCGGA	0.726																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000317173.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(7-9)tcG>tcC		methionine sulfoxide reductase A	L-Methionine(DB00134)						23	24	24					8																	9912035		2202	4300	6502	SO:0001819	synonymous_variant	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:9912035G>C	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.9G>C	8.37:g.9912035G>C						MSRA_ENST00000518255.1_Silent_p.S3S|MSRA_ENST00000441698.2_Silent_p.S3S	p.S3S	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN			1	258	+		Myeloproliferative disorder(644;0.178)	3					E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	ENST00000317173.4	37	c.9G>C	CCDS5975.1																																																																																				0.726	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		3	38	0	0	0	1	0	3	38					C	9912035	G	C	9912035	2	2	377	1	0	0	0	0	0	0	0	1	9887	1103	39	4		4	MSRA	8	9912035	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		9912035	136451987	27	34473											
ADAM7	8756	broad.mit.edu	37	chr8	24324409	24324409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatataacctgagggtgCcgtatggtgccaattattcc	9	9	1	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:24324409C>A	ENST00000175238.6	+	6	570	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163						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)		CCTGAGGGTGCCGTATGGTGC	0.393																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(487-489)Ccg>Acg		ADAM metallopeptidase domain 7							110	115	113					8																	24324409		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324409C>A	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.487C>A	8.37:g.24324409C>A	ENSP00000175238:p.Pro163Thr					RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T	p.P163T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	570	+		Prostate(55;0.0181)	163					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.487C>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	7.253	0.603563	0.14002	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.30981	2.29;1.52;1.51	5.08	1.01	0.19927	.	0.850327	0.09989	N	0.729939	T	0.14657	0.0354	N	0.19112	0.55	0.09310	N	1	P;B	0.38922	0.651;0.004	B;B	0.32677	0.15;0.002	T	0.17992	-1.0351	10	0.15952	T	0.53	.	6.2319	0.20740	0.477:0.4358:0.0:0.0872	.	163;163	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	T	163	ENSP00000393073:P163T;ENSP00000175238:P163T;ENSP00000370166:P163T	ENSP00000175238:P163T	P	+	1	0	ADAM7	24380299	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.064000	0.14437	0.065000	0.16485	0.655000	0.94253	CCG		0.393	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		4	113	1	0	1	1	1	4	113					A	24324409	C	A	24324409	3	1	377	1	0	0	0	0	1	0	0	0	251	739	26	4	509	4	ADAM7	8	24324409	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	14412374	24324409	122039613	28	34474											
ANK1	286	broad.mit.edu	37	chr8	41575698	41575698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggttctttttgcaggCgatgtgtaagggggtaaagc	16	5	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:41575698C>T	ENST00000347528.4	-	11	1215	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	ANK1_ENST00000396945.1_Missense_Mutation_p.A378T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000396942.1_Missense_Mutation_p.A378T|ANK1_ENST00000289734.7_Missense_Mutation_p.A378T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	378	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTTGCAGGCGATGTGTAAG	0.592																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1132-1134)Gcc>Acc		ankyrin 1, erythrocytic							81	72	75					8																	41575698		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41575698C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1132G>A	8.37:g.41575698C>T	ENSP00000339620:p.Ala378Thr					ANK1_ENST00000396945.1_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000289734.7_Missense_Mutation_p.A378T|ANK1_ENST00000347528.4_Missense_Mutation_p.A378T	p.A378T			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		11	1215	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	378			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.1132G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.891017	0.97074	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.82433	2.59	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;1.0;1.0	T	0.70630	-0.4819	10	0.87932	D	0	.	19.3648	0.94458	0.0:1.0:0.0:0.0	.	411;378;378;378;378	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	T	378;378;378;378;378;378;411;378	ENSP00000339620:A378T;ENSP00000289734:A378T;ENSP00000369082:A378T;ENSP00000380149:A378T;ENSP00000380147:A378T;ENSP00000309131:A378T;ENSP00000265709:A411T	ENSP00000265709:A411T	A	-	1	0	ANK1	41694855	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.797000	0.85911	2.583000	0.87209	0.591000	0.81541	GCC		0.592	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	63	0	0	0	1	0	4	63					T	41575698	C	T	41575698	3	4	377	1	0	0	0	0	1	0	0	0	620	768	27	1	4995	1	ANK1	8	41575698	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	17251289	41575698	104788324	29	34475											
UBAP2	55833	broad.mit.edu	37	chr9	33933502	33933502	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatacctgctaagctgagaGagagggctgctagtcaggtc	13	10	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:33933502G>A	ENST00000379238.1	-	18	2211	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	UBAP2_ENST00000449054.1_Silent_p.L698L|SNORD121B_ENST00000458838.1_RNA|UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000418786.2_Silent_p.L645L					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)		TAAGCTGAGAGAGAGGGCTGC	0.592																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2092-2094)ctC>ctT		ubiquitin associated protein 2							82	68	73					9																	33933502		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33933502G>A	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.2094C>T	9.37:g.33933502G>A						UBAP2_ENST00000449054.1_Silent_p.L698L|UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000418786.2_Silent_p.L645L	p.L698L			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	18	2211	-			698						Silent	SNP	ENST00000379238.1	37	c.2094C>T	CCDS6547.1																																																																																				0.592	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		7	20	0	0	0	1	0	7	20					A	33933502	G	A	33933502	2	1	377	1	0	0	0	0	0	0	0	1	16834	929	33	2		2	UBAP2	9	33933502	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		33933502	107279929	30	34476											
RGS3	5998	broad.mit.edu	37	chr9	116276827	116276827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaccatgaagggccacGggaactaccaaaactgcccg	11	13	0	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:116276827G>A	ENST00000374140.2	+	16	1776	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R|RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					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						GAAGGGCCACGGGAACTACCA	0.572																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1567-1569)Ggg>Agg		regulator of G-protein signaling 3							129	99	109					9																	116276827		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116276827G>A	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.1567G>A	9.37:g.116276827G>A	ENSP00000363255:p.Gly523Arg					RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R	p.G523R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			16	1776	+			523					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1567G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096041	0.76870	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.68181	0.59;0.59;0.99;0.1;-0.31	5.08	4.17	0.49024	.	0.121240	0.56097	D	0.000028	T	0.66376	0.2783	L	0.27053	0.805	0.80722	D	1	P;D;D;D;D;D	0.76494	0.784;0.988;0.991;0.992;0.99;0.999	B;P;P;P;P;P	0.59761	0.122;0.742;0.691;0.663;0.8;0.863	T	0.69285	-0.5185	10	0.87932	D	0	.	10.3782	0.44094	0.0929:0.0:0.9071:0.0	.	242;149;242;413;411;523	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	R	523;523;411;242;242;149	ENSP00000363255:G523R;ENSP00000259406:G523R;ENSP00000312844:G411R;ENSP00000340284:G242R;ENSP00000378141:G242R	ENSP00000312844:G411R	G	+	1	0	RGS3	115316648	0.995000	0.38212	0.254000	0.24359	0.977000	0.68977	4.245000	0.58734	1.226000	0.43582	0.561000	0.74099	GGG		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		9	63	0	0	0	1	0	9	63					A	116276827	G	A	116276827	3	1	377	1	0	0	0	0	1	0	0	0	13306	1116	39	1	1766	1	RGS3	9	116276827	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	82343325	116276827	24936604	31	34477											
GOLGA2	2801	broad.mit.edu	37	chr9	131020288	131020288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatggccccctgcagggCccggtgggtctccccacaca	11	19	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:131020288C>T	ENST00000421699.2	-	22	2410	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.A788T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	800					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTGCAGGGCCCGGTGGGTC	0.677																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2398-2400)Gcc>Acc		golgin A2							22	26	25					9																	131020288		2169	4276	6445	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131020288C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2398G>A	9.37:g.131020288C>T	ENSP00000416097:p.Ala800Thr						p.A800T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			22	2410	-			800					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2398G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	23.4	4.407047	0.83230	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.36699	1.24	5.01	4.11	0.48088	.	0.152077	0.64402	N	0.000016	T	0.56702	0.2003	M	0.78801	2.425	0.46901	D	0.999242	D;P;D	0.56521	0.976;0.933;0.976	P;D;P	0.65323	0.698;0.934;0.698	T	0.56709	-0.7934	10	0.33141	T	0.24	.	13.0039	0.58692	0.0:0.922:0.0:0.078	.	800;418;84	Q08379;Q08379-2;Q5HYE0	GOGA2_HUMAN;.;.	T	800;84	ENSP00000416097:A800T	ENSP00000342692:A84T	A	-	1	0	GOLGA2	130060109	1.000000	0.71417	0.659000	0.29680	0.008000	0.06430	3.104000	0.50306	1.094000	0.41399	0.655000	0.94253	GCC		0.677	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		8	36	0	0	0	1	0	8	36					T	131020288	C	T	131020288	3	4	377	1	0	0	0	0	1	0	0	0	6552	739	26	2	630	2	GOLGA2	9	131020288	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	14743461	131020288	10193143	32	34478											
KCNT1	57582	broad.mit.edu	37	chr9	138667250	138667250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccccttctgctgcctgCggctggacaaggtaaggctg	13	13	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:138667250C>T	ENST00000263604.3	+	20	2281	c.2281C>T	c.(2281-2283)Cgg>Tgg	p.R761W	KCNT1_ENST00000298480.5_Missense_Mutation_p.R780W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	761					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R780R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCTGCCTGCGGCTGGACAA	0.642																																						ENST00000298480.5																			1	Substitution - coding silent(1)	p.R780R(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2338-2340)Cgg>Tgg		potassium channel, subfamily T, member 1							67	57	60					9																	138667250		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138667250C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2281C>T	9.37:g.138667250C>T	ENSP00000263604:p.Arg761Trp					KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W|KCNT1_ENST00000263604.3_Missense_Mutation_p.R761W	p.R780W			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	20	2412	+		Myeloproliferative disorder(178;0.0821)	780					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.2338C>T		.	.	.	.	.	.	.	.	.	.	C	17.73	3.461916	0.63513	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	3.61	1.32	0.21799	.	0.000000	0.64402	U	0.000001	D	0.84964	0.5589	M	0.86178	2.8	0.53005	D	0.999963	D;D;D;D	0.89917	1.0;0.995;1.0;0.999	D;P;D;P	0.66497	0.932;0.677;0.944;0.841	D	0.86840	0.2016	10	0.87932	D	0	-33.6652	13.232	0.59949	0.3841:0.6159:0.0:0.0	.	747;780;735;761	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	W	735;780;780;739;747;761;759;761	ENSP00000417851:R735W;ENSP00000298480:R780W;ENSP00000360822:R780W;ENSP00000263604:R761W	ENSP00000263604:R761W	R	+	1	2	KCNT1	137807071	0.998000	0.40836	0.999000	0.59377	0.771000	0.43674	1.517000	0.35867	0.471000	0.27319	0.298000	0.19748	CGG		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		6	64	0	0	0	1	0	6	64					T	138667250	C	T	138667250	3	4	377	1	0	0	0	0	1	0	0	0	8091	759	27	1	2416	1	KCNT1	9	138667250	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	7646962	138667250	2546181	33	34479											
ARHGAP21	57584	broad.mit.edu	37	chr10	24890933	24890933	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatcggtgacaaggggtcGgaaatgaagccacccttcct	11	11	0	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:24890933G>A	ENST00000396432.2	-	13	3307	c.2821C>T	c.(2821-2823)Cga>Tga	p.R941*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	940	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						ACAAGGGGTCGGAAATGAAGC	0.478																																						ENST00000396432.2																			0				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						c.(2821-2823)Cga>Tga		Rho GTPase activating protein 21							75	71	72					10																	24890933		2203	4300	6503	SO:0001587	stop_gained	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24890933G>A	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.2821C>T	10.37:g.24890933G>A	ENSP00000379709:p.Arg941*					ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*	p.R941*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			13	3307	-			940			Interaction with ARF1 and ARF6.|PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	c.2821C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	44	10.712849	0.99455	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.23	3.21	0.36854	.	0.121282	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7345	0.62809	0.0:0.0:0.7039:0.2961	.	.	.	.	X	941;728;931;941;776	.	ENSP00000365604:R728X	R	-	1	2	ARHGAP21	24930939	1.000000	0.71417	0.925000	0.36789	0.822000	0.46500	3.176000	0.50863	1.302000	0.44855	0.462000	0.41574	CGA		0.478	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		39	29	0	0	0	1	0	39	29					A	24890933	G	A	24890933	4	1	377	1	0	0	0	0	0	1	0	0	871	1124	39	1	3111	1	ARHGAP21	10	24890933	Nonsense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		24890933	110643814	34	34480											
MYOF	26509	broad.mit.edu	37	chr10	95111508	95111508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccatagatttcaacttcatCgaatataattgtttggtccc	5	10	2	1	rs375965848		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:95111508C>T	ENST00000359263.4	-	33	3576	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	MYOF_ENST00000371501.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1193	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAACTTCATCGAATATAATT	0.413																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3577-3579)Gat>Aat		myoferlin		C	ASN/ASP,ASN/ASP	0,3652		0,0,1826	116	112	113		3577,3538	5.8	1	10		113	1,8157		0,1,4078	no	missense,missense	MYOF	NM_013451.3,NM_133337.2	23,23	0,1,5904	TT,TC,CC		0.0123,0.0,0.0085	benign,benign	1193/2062,1180/2049	95111508	1,11809	1826	4079	5905	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111508C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3577G>A	10.37:g.95111508C>T	ENSP00000352208:p.Asp1193Asn					MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N	p.D1193N			Q9NZM1	MYOF_HUMAN			33	3699	-			1193			C2 4.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3577G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834586	0.16820	0.0	1.23E-4	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.77	5.77	0.91146	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.209235	0.47852	D	0.000215	T	0.48114	0.1482	N	0.17312	0.475	0.36861	D	0.888414	B;B	0.12630	0.004;0.006	B;B	0.10450	0.002;0.005	T	0.50065	-0.8871	10	0.26408	T	0.33	-23.4325	10.0912	0.42447	0.0:0.8468:0.0:0.1532	.	1180;1193	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	N	1180;1193;1193;1193	ENSP00000351094:D1180N;ENSP00000352208:D1193N;ENSP00000360556:D1193N;ENSP00000360557:D1193N	ENSP00000351094:D1180N	D	-	1	0	MYOF	95101498	0.993000	0.37304	0.996000	0.52242	0.963000	0.63663	1.183000	0.32041	2.734000	0.93682	0.650000	0.86243	GAT		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		10	41	0	0	0	1	0	10	41					T	95111508	C	T	95111508	3	4	377	1	0	0	0	0	1	0	0	0	10089	884	31	1	2696	1	MYOF	10	95111508	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	70220575	95111508	40423239	35	34481											
HPSE2	60495	broad.mit.edu	37	chr10	100374723	100374723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtcaaaaaatgagtgccGtatcacgacatcaatgccct	8	10	3	1	rs371339829		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:100374723G>A	ENST00000370552.3	-	9	1317	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	420					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)		AATGAGTGCCGTATCACGACA	0.398																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1258-1260)Cgg>Tgg		heparanase 2		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	195	167	177		1084,922,1258,1258	5.9	1	10		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	362/535,308/481,420/549,420/593	100374723	1,13005	2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100374723G>A	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.1258C>T	10.37:g.100374723G>A	ENSP00000359583:p.Arg420Trp					HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W	p.R420W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1317	-			420					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1258C>T	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911451	0.92178	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.87	5.87	0.94306	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.989;0.997;0.993	T	0.66885	-0.5810	10	0.66056	D	0.02	-10.2568	19.3531	0.94398	0.0:0.0:1.0:0.0	.	308;420;362;420	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	W	420;362;420;308	ENSP00000359583:R420W;ENSP00000359580:R362W;ENSP00000359577:R420W;ENSP00000384384:R308W	ENSP00000359577:R420W	R	-	1	2	HPSE2	100364713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.764000	0.74960	2.941000	0.99782	0.655000	0.94253	CGG		0.398	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		13	78	0	0	0	1	0	13	78					A	100374723	G	A	100374723	3	1	377	1	0	0	0	0	1	0	0	0	7345	1144	40	1	574	1	HPSE2	10	100374723	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	5263215	100374723	35160024	36	34482											
PRDM10	56980	broad.mit.edu	37	chr11	129784846	129784846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagctgtcgtcagtggtGtgtgtatggtgttggagagc	16	6	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr11:129784846G>A	ENST00000360871.3	-	17	2825	c.2594C>T	c.(2593-2595)aCa>aTa	p.T865I	PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I|PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000358825.5_Missense_Mutation_p.T869I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	869					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)		CGTCAGTGGTGTGTGTATGGT	0.512																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2605-2607)aCa>aTa		PR domain containing 10							157	147	150					11																	129784846		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784846G>A	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.2594C>T	11.37:g.129784846G>A	ENSP00000354118:p.Thr865Ile					PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I|PRDM10_ENST00000360871.3_Missense_Mutation_p.T865I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I	p.T869I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2837	-	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)	869			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2606C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014448	0.35511	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10477	2.88;2.89;2.89;2.88;2.94;2.87;2.97	5.52	5.52	0.82312	.	0.294052	0.39407	N	0.001366	T	0.07638	0.0192	N	0.14661	0.345	0.21897	N	0.999487	B;B;B;B;B;B;B	0.31680	0.002;0.335;0.012;0.007;0.003;0.005;0.012	B;B;B;B;B;B;B	0.28991	0.009;0.097;0.02;0.009;0.02;0.013;0.02	T	0.29274	-1.0017	10	0.66056	D	0.02	-6.3421	13.6983	0.62593	0.0736:0.0:0.9264:0.0	.	779;839;865;869;783;779;783	B7ZL72;E9PLV1;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	I	869;779;865;783;839;783;582	ENSP00000351686:T869I;ENSP00000302669:T779I;ENSP00000354118:T865I;ENSP00000398431:T783I;ENSP00000431262:T839I;ENSP00000432237:T783I;ENSP00000435940:T582I	ENSP00000302669:T779I	T	-	2	0	PRDM10	129290056	0.985000	0.35326	0.038000	0.18304	0.840000	0.47671	6.829000	0.75314	2.603000	0.88011	0.655000	0.94253	ACA		0.512	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		42	71	0	0	0	1	0	42	71					A	129784846	G	A	129784846	3	1	377	1	0	0	0	0	1	0	0	0	12451	1377	48	2	896	2	PRDM10	11	129784846	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		129784846	5221670	37	34483											
STYK1	55359	broad.mit.edu	37	chr12	10786670	10786670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaagaaggatgaggaagaTagtaaccaacaaagttggga	12	6	0	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:10786670T>C	ENST00000075503.3	-	4	626	c.106A>G	c.(106-108)Atc>Gtc	p.I36V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGAGGAAGATAGTAACCAAC	0.453										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(106-108)Atc>Gtc		serine/threonine/tyrosine kinase 1							212	203	206					12																	10786670		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10786670T>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.106A>G	12.37:g.10786670T>C	ENSP00000075503:p.Ile36Val	HNSCC(73;0.22)					p.I36V	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			4	626	-			36					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.106A>G	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.999176	0.00435	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867;ENST00000535345;ENST00000541561	T;T;T	0.77098	-1.07;1.05;1.05	5.11	-3.63	0.04529	.	2.748860	0.00766	N	0.001171	T	0.57388	0.2050	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58504	-0.7625	10	0.02654	T	1	7.4644	10.6597	0.45696	0.0:0.7824:0.1028:0.1148	.	36	Q6J9G0	STYK1_HUMAN	V	36	ENSP00000075503:I36V;ENSP00000446241:I36V;ENSP00000445391:I36V	ENSP00000075503:I36V	I	-	1	0	STYK1	10677937	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.962000	0.03841	-0.990000	0.03481	0.459000	0.35465	ATC		0.453	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		83	123	0	0	0	1	0	83	123					C	10786670	T	C	10786670	3	2	377	1	0	0	0	0	1	0	0	0	15358	1406	49	3	1194	3	STYK1	12	10786670	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		10786670	123065225	38	34484											
BCAT1	586	broad.mit.edu	37	chr12	24995135	24995135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctactgcttcacattggGcaaaaagagatgagccgtaa	9	8	2	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:24995135G>A	ENST00000261192.7	-	7	1224	c.698C>T	c.(697-699)gCc>gTc	p.A233V	BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V|BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	233					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)	TTCACATTGGGCAAAAAGAGA	0.433																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(697-699)gCc>gTc		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						70	67	68					12																	24995135		1925	4144	6069	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24995135G>A		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.698C>T	12.37:g.24995135G>A	ENSP00000261192:p.Ala233Val					BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V	p.A233V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			7	1224	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		233					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.698C>T	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	G	5.483	0.274134	0.10403	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	L	0.28776	0.89	0.49213	D	0.999767	B;B;B;B;B	0.24258	0.033;0.04;0.012;0.1;0.011	B;B;B;B;B	0.27500	0.08;0.016;0.047;0.027;0.013	T	0.05937	-1.0855	10	0.23891	T	0.37	-5.5476	12.0472	0.53487	0.0788:0.0:0.9212:0.0	.	196;245;172;233;232	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	V	233;232;172;245;196	ENSP00000261192:A233V;ENSP00000440817:A232V;ENSP00000339805:A172V;ENSP00000443459:A245V;ENSP00000440827:A196V	ENSP00000261192:A233V	A	-	2	0	BCAT1	24886402	1.000000	0.71417	0.945000	0.38365	0.069000	0.16628	3.718000	0.54919	2.400000	0.81607	0.563000	0.77884	GCC		0.433	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		3	39	0	0	0	1	0	3	39					A	24995135	G	A	24995135	3	1	377	1	0	0	0	0	1	0	0	0	1354	1203	42	2	482	2	BCAT1	12	24995135	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	14208465	24995135	108856760	39	34485											
EIF4B	1975	broad.mit.edu	37	chr12	53412741	53412741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttctaggaaacctacCctatgatgttacagaagagt	8	8	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:53412741C>T	ENST00000262056.9	+	3	637	c.311C>T	c.(310-312)cCc>cTc	p.P104L	EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	104	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						GGAAACCTACCCTATGATGTT	0.423																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(310-312)cCc>cTc		eukaryotic translation initiation factor 4B							42	39	40					12																	53412741		1798	4063	5861	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53412741C>T	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.311C>T	12.37:g.53412741C>T	ENSP00000262056:p.Pro104Leu					RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L	p.P104L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			3	637	+			104			RRM.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.311C>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723379	0.89298	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	4.67	4.67	0.58626	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.84878	0.0829	10	0.87932	D	0	.	17.0175	0.86423	0.0:1.0:0.0:0.0	.	104;104;104	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	L	104;58;104;104;104;104;104	ENSP00000262056:P104L;ENSP00000447192:P58L;ENSP00000388806:P104L;ENSP00000412530:P104L;ENSP00000449746:P104L;ENSP00000450324:P104L	ENSP00000262056:P104L	P	+	2	0	EIF4B	51699008	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.521000	0.84997	0.591000	0.81541	CCC		0.423	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		8	48	0	0	0	1	0	8	48					T	53412741	C	T	53412741	3	4	377	1	0	0	0	0	1	0	0	0	5027	623	22	2	321	2	EIF4B	12	53412741	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	28417606	53412741	80439154	40	34486											
SDR9C7	121214	broad.mit.edu	37	chr12	57323245	57323245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccaaagctttcgcatgCgtgactccaggttctccttg	8	14	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:57323245C>T	ENST00000293502.1	-	3	796	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	218					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTTCGCATGCGTGACTCCAG	0.557																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(652-654)cGc>cAc		short chain dehydrogenase/reductase family 9C, member 7							121	106	111					12																	57323245		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57323245C>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.653G>A	12.37:g.57323245C>T	ENSP00000293502:p.Arg218His						p.R218H	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			3	796	-			218					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.653G>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108353	0.37242	.	.	ENSG00000170426	ENST00000293502	D	0.89939	-2.59	5.45	1.58	0.23477	NAD(P)-binding domain (1);	0.386896	0.23277	N	0.049944	D	0.82697	0.5093	L	0.45228	1.405	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.71866	-0.4463	10	0.45353	T	0.12	.	10.0305	0.42099	0.0:0.6533:0.0:0.3467	.	218	Q8NEX9	DR9C7_HUMAN	H	218	ENSP00000293502:R218H	ENSP00000293502:R218H	R	-	2	0	SDR9C7	55609512	0.000000	0.05858	0.028000	0.17463	0.188000	0.23474	-1.629000	0.02029	0.391000	0.25143	0.650000	0.86243	CGC		0.557	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		25	63	0	0	0	1	0	25	63					T	57323245	C	T	57323245	3	4	377	1	0	0	0	0	1	0	0	0	13974	768	27	1	296	1	SDR9C7	12	57323245	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	3910504	57323245	76528650	41	34487											
MYCBP2	23077	broad.mit.edu	37	chr13	77663122	77663122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtgggctgagattagccGagaaagctcaggagacggat	16	7	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr13:77663122G>A	ENST00000544440.2	-	61	10473	c.10456C>T	c.(10456-10458)Cgg>Tgg	p.R3486W	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3524W|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2-AS1_ENST00000422231.2_RNA					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)		GAGATTAGCCGAGAAAGCTCA	0.363																																						ENST00000407578.2																			0				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						c.(10570-10572)Cgg>Tgg		MYC binding protein 2, E3 ubiquitin protein ligase							64	67	66					13																	77663122		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77663122G>A	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.10456C>T	13.37:g.77663122G>A	ENSP00000444596:p.Arg3486Trp					MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3486W	p.R3524W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	61	10836	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3486						Missense_Mutation	SNP	ENST00000544440.2	37	c.10570C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193312	0.78902	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30714	1.52;1.52;1.52	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.51068	-0.8752	10	0.87932	D	0	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	3486	O75592	MYCB2_HUMAN	W	3486;3524;3486	ENSP00000349892:R3486W;ENSP00000384288:R3524W;ENSP00000444596:R3486W	ENSP00000349892:R3486W	R	-	1	2	MYCBP2	76561123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.567000	0.60850	2.586000	0.87340	0.563000	0.77884	CGG		0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	67	0	0	0	1	0	8	67					A	77663122	G	A	77663122	3	1	377	1	0	0	0	0	1	0	0	0	10018	1057	37	1	3558	1	MYCBP2	13	77663122	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		77663122	37506756	42	34488											
TOX4	9878	broad.mit.edu	37	chr14	21964706	21964706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttttctctcttagggAtgtattcttggcctgggtag	11	7	4	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:21964706A>G	ENST00000405508.1	+	10	2084	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	TOX4_ENST00000262709.3_Missense_Mutation_p.D603G|TOX4_ENST00000448790.2_Missense_Mutation_p.D580G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	603						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCTTAGGGATGTATTCTTG	0.393																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1807-1809)gAt>gGt		TOX high mobility group box family member 4							162	148	153					14																	21964706		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21964706A>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1808A>G	14.37:g.21964706A>G	ENSP00000385102:p.Asp603Gly					TOX4_ENST00000448790.2_Missense_Mutation_p.D580G|TOX4_ENST00000262709.3_Missense_Mutation_p.D603G	p.D603G			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	10	2084	+	all_cancers(95;0.000465)		603					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1808A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707344	0.68615	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.15952	2.38;2.38;2.38	5.01	5.01	0.66863	.	0.175509	0.47093	D	0.000253	T	0.34716	0.0907	L	0.54323	1.7	0.58432	D	0.999997	D;D	0.57571	0.98;0.98	D;D	0.68192	0.956;0.956	T	0.02933	-1.1092	10	0.54805	T	0.06	.	12.6299	0.56651	1.0:0.0:0.0:0.0	.	580;603	B4DPY8;O94842	.;TOX4_HUMAN	G	603;603;580;531	ENSP00000385102:D603G;ENSP00000262709:D603G;ENSP00000393080:D580G	ENSP00000262709:D603G	D	+	2	0	TOX4	21034546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.514000	0.67043	2.234000	0.73211	0.528000	0.53228	GAT		0.393	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		6	77	0	0	0	1	0	6	77					G	21964706	A	G	21964706	3	3	377	1	0	0	0	0	1	0	0	0	16377	333	12	3	1842	3	TOX4	14	21964706	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		21964706	85384834	43	34489											
ADCY4	196883	broad.mit.edu	37	chr14	24793576	24793576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaaggtgatgctataCgtgatggccagagctggggg	19	5	0	3	rs141339113		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					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)		TGATGCTATACGTGATGGCCA	0.567																																						ENST00000310677.4																			0				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						c.(1843-1845)acG>acA		adenylate cyclase 4		C	,,	1,4405	2.1+/-5.4	0,1,2202	76	72	73		1845,1845,1845	0.3	1	14	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	615/1078,615/1078,615/1078	24793576	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793576C>T	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.1845G>A	14.37:g.24793576C>T						ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000554068.2_Silent_p.T615T	p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	16	1958	-			615					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1845G>A	CCDS9627.1																																																																																				0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			11	63	0	0	0	1	0	11	63					T	24793576	C	T	24793576	2	4	377	1	0	0	0	0	0	0	0	1	296	523	19	1		1	ADCY4	14	24793576	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	2828870	24793576	82555964	44	34490											
DYNC1H1	1778	broad.mit.edu	37	chr14	102510228	102510228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctcccaacgagcgtgCccgcttgtacttcctgctgg	10	16	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:102510228C>T	ENST00000360184.4	+	70	12694	c.12530C>T	c.(12529-12531)gCc>gTc	p.A4177V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4177	AAA 6. {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						AACGAGCGTGCCCGCTTGTAC	0.507																																						ENST00000360184.4																			0				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						c.(12529-12531)gCc>gTc		dynein, cytoplasmic 1, heavy chain 1							95	90	91					14																	102510228		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510228C>T	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.12530C>T	14.37:g.102510228C>T	ENSP00000348965:p.Ala4177Val					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	p.A4177V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			70	12694	+			4177			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12530C>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809529	0.90707	.	.	ENSG00000197102	ENST00000360184	T	0.09163	3.01	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.75447	2.3	0.80722	D	1	P	0.41673	0.759	B	0.43990	0.438	T	0.00207	-1.1919	10	0.51188	T	0.08	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	4177	Q14204	DYHC1_HUMAN	V	4177	ENSP00000348965:A4177V	ENSP00000348965:A4177V	A	+	2	0	DYNC1H1	101579981	1.000000	0.71417	0.985000	0.45067	0.904000	0.53231	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GCC		0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	50	0	0	0	1	0	3	50					T	102510228	C	T	102510228	3	4	377	1	0	0	0	0	1	0	0	0	4841	739	26	2	12808	2	DYNC1H1	14	102510228	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	77716652	102510228	4839312	45	34491											
KIAA1370	56204	broad.mit.edu	37	chr15	52901729	52901729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcatatgagaataaaagTcattagaaatacaagtttca	7	5	2	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:52901729T>C	ENST00000261844.7	-	6	1534	c.1382A>G	c.(1381-1383)gAc>gGc	p.D461G	FAM214A_ENST00000546305.2_Missense_Mutation_p.D468G	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	461																	AGAATAAAAGTCATTAGAAAT	0.413																																						ENST00000261844.7																			0											c.(1381-1383)gAc>gGc		family with sequence similarity 214, member A							89	83	85					15																	52901729		1824	4076	5900	SO:0001583	missense	56204							g.chr15:52901729T>C	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.1382A>G	15.37:g.52901729T>C	ENSP00000261844:p.Asp461Gly					FAM214A_ENST00000546305.2_Missense_Mutation_p.D468G	p.D461G	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			6	1534	-			461					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.1382A>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.127817	0.00031	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.29655	1.57;1.56	5.63	2.51	0.30379	.	0.830039	0.11758	N	0.532394	T	0.09642	0.0237	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35101	-0.9802	10	0.08837	T	0.75	.	6.8462	0.23990	0.0:0.6199:0.1379:0.2422	.	468;461	F5H8G0;Q32MH5	.;K1370_HUMAN	G	461;461;460;468	ENSP00000261844:D461G;ENSP00000443598:D468G	ENSP00000261844:D461G	D	-	2	0	KIAA1370	50689021	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.325000	0.19628	0.804000	0.34136	-0.177000	0.13119	GAC		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		9	68	0	0	0	1	0	9	68					C	52901729	T	C	52901729	3	2	377	1	0	0	0	0	1	0	0	0	8226	1667	58	3	1880	3	KIAA1370	15	52901729	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		52901729	49629663	46	34492											
ANXA2	302	broad.mit.edu	37	chr15	60644017	60644017	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactcttgtacctatcaaaTactgaggaaaaacaacaaag	5	8	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:60644017T>C	ENST00000396024.3	-	11	843	c.684A>G	c.(682-684)gtA>gtG	p.V228V	ANXA2_ENST00000421017.2_Splice_Site_p.V228V|ANXA2_ENST00000451270.2_Splice_Site_p.V228V|ANXA2_ENST00000332680.4_Splice_Site_p.V246V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	228					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	ACCTATCAAATACTGAGGAAA	0.388																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.e11-1		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						68	67	67					15																	60644017		2203	4300	6503	SO:0001630	splice_region_variant	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60644017T>C	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"Annexins"	537	protein-coding gene	gene with protein product	"annexin II"	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.683-1A>G	15.37:g.60644017T>C						ANXA2_ENST00000451270.2_Splice_Site_p.V228_splice|ANXA2_ENST00000421017.2_Splice_Site_p.V228_splice|ANXA2_ENST00000332680.4_Splice_Site_p.V246_splice	p.V228_splice	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			11	843	-			228					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Splice_Site	SNP	ENST00000396024.3	37	c.682_splice	CCDS10175.1																																																																																				0.388	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857	Silent	6	68	0	0	0	1	0	6	68					C	60644017	T	C	60644017	5	2	377	1	0	0	0	0	0	0	1	0	718	1420	49	3	351	3	ANXA2	15	60644017	Splice_Site	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	7742288	60644017	41887375	47	34493											
ALOX15	246	broad.mit.edu	37	chr17	4534928	4534928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttccaccacgctgggCcgcaggtactcgtagggcat	12	13	0	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:4534928C>T	ENST00000570836.1	-	15	2052	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000545513.1_Silent_p.R674R|ALOX15_ENST00000293761.3_Silent_p.R652R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	652	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCACGCTGGGCCGCAGGTACT	0.552																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1954-1956)cgG>cgA		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						140	123	129					17																	4534928		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4534928C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1956G>A	17.37:g.4534928C>T						ALOX15_ENST00000293761.3_Silent_p.R652R|ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000545513.1_Silent_p.R674R	p.R652R			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	2052	-			652			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1956G>A	CCDS11049.1																																																																																				0.552	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			17	92	0	0	0	1	0	17	92					T	4534928	C	T	4534928	2	4	377	1	0	0	0	0	0	0	0	1	538	726	26	2		2	ALOX15	17	4534928	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		4534928	76660282	48	34494											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	15	9	1	2	rs148924904		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53	54	53					17																	7578442		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578442T>C	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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)				TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	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	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		43	18	0	0	0	1	0	43	18					C	7578442	T	C	7578442	3	2	377	1	0	0	0	0	1	0	0	0	16378	1638	57	3	810	3	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	3043514	7578442	73616768	49	34495											
CCDC40	55036	broad.mit.edu	37	chr17	78055796	78055796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagcacatgacctccaAcaagaccaccaaatacttca	6	14	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:78055796A>G	ENST00000397545.4	+	12	1955	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	643					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)			ATGACCTCCAACAAGACCACC	0.612																																						ENST00000397545.4																			0				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						c.(1927-1929)aAc>aGc		coiled-coil domain containing 40							45	48	47					17																	78055796		2157	4262	6419	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055796A>G	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.1928A>G	17.37:g.78055796A>G	ENSP00000380679:p.Asn643Ser					CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	1955	+	all_neural(118;0.167)		643					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1928A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384167	0.25031	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.48201	0.82;0.82	4.86	1.16	0.20824	.	.	.	.	.	T	0.29976	0.0750	L	0.28115	0.83	0.33462	D	0.585104	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.34204	-0.9838	9	0.15066	T	0.55	-48.1881	9.5505	0.39306	0.6263:0.0:0.3737:0.0	.	643;426	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	S	643	ENSP00000364011:N643S;ENSP00000380679:N643S	ENSP00000364011:N643S	N	+	2	0	CCDC40	75670391	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.237000	0.32695	0.222000	0.20900	-0.254000	0.11334	AAC		0.612	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		5	35	0	0	0	1	0	5	35					G	78055796	A	G	78055796	3	3	377	1	0	0	0	0	1	0	0	0	2812	43	2	3	1974	3	CCDC40	17	78055796	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	70477354	78055796	3139414	50	34496											
SERPINB7	8710	broad.mit.edu	37	chr18	61468117	61468117	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgctctgggaaggcagtCgccatgatgcatcaggaacg	14	10	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:61468117C>T	ENST00000398019.2	+	7	940	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V|SERPINB7_ENST00000546027.1_Silent_p.V205V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	205					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAGGCAGTCGCCATGATGC	0.368																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(613-615)gtC>gtT		serpin peptidase inhibitor, clade B (ovalbumin), member 7							156	140	146					18																	61468117		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61468117C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.615C>T	18.37:g.61468117C>T						SERPINB7_ENST00000546027.1_Silent_p.V205V|SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V	p.V205V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			7	940	+		Esophageal squamous(42;0.129)	205					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.615C>T	CCDS11988.1																																																																																				0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		14	78	0	0	0	1	0	14	78					T	61468117	C	T	61468117	2	4	377	1	0	0	0	0	0	0	0	1	14106	871	31	1		1	SERPINB7	18	61468117	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		61468117	16609131	51	34497											
TSHZ1	10194	broad.mit.edu	37	chr18	72999831	72999831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagccgctggtgtccagCgtggctgattcggtggcatc	14	11	0	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:72999831C>T	ENST00000580243.1	+	2	2817	c.2469C>T	c.(2467-2469)agC>agT	p.S823S	TSHZ1_ENST00000322038.5_Silent_p.S778S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	823					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGTGTCCAGCGTGGCTGATT	0.572																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2332-2334)agC>agT		teashirt zinc finger homeobox 1							61	61	61					18																	72999831		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999831C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2469C>T	18.37:g.72999831C>T						TSHZ1_ENST00000580243.1_Silent_p.S823S	p.S778S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2918	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	823					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2334C>T																																																																																					0.572	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		4	80	0	0	0	1	0	4	80					T	72999831	C	T	72999831	2	4	377	1	0	0	0	0	0	0	0	1	16620	767	27	1		1	TSHZ1	18	72999831	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	11531714	72999831	5077417	52	34498											
ZNF681	148213	broad.mit.edu	37	chr19	23927680	23927680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcacatatgtacgaTttctctccaatatgaattct	3	10	4	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:23927680T>C	ENST00000402377.3	-	4	813	c.672A>G	c.(670-672)aaA>aaG	p.K224K	ZNF681_ENST00000395385.3_Silent_p.K155K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	224				K -> R (in Ref. 1; BAG53769). {ECO:0000305}.	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(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGTACGATTTCTCTCCAA	0.328																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(670-672)aaA>aaG		zinc finger protein 681							49	49	49					19																	23927680		2203	4299	6502	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927680T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.672A>G	19.37:g.23927680T>C						ZNF681_ENST00000395385.3_Silent_p.K155K	p.K224K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	813	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	224	K -> R (in Ref. 1; BAG53769).				B3KVF7	Silent	SNP	ENST00000402377.3	37	c.672A>G	CCDS12414.2																																																																																				0.328	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		9	15	0	0	0	1	0	9	15					C	23927680	T	C	23927680	2	2	377	1	0	0	0	0	0	0	0	1	18085	1490	52	3		3	ZNF681	19	23927680	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		23927680	35201303	53	34499											
PRKD2	25865	broad.mit.edu	37	chr19	47219549	47219549	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggtggcggcgactgcagctCtaggccgccggggggcggag	21	12	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:47219549C>T	ENST00000291281.4	-	1	304	c.79G>A	c.(79-81)Gag>Aag	p.E27K	PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K|PRKD2_ENST00000600194.1_5'Flank|PRKD2_ENST00000433867.1_Missense_Mutation_p.E27K			Q9BZL6	KPCD2_HUMAN	protein kinase D2	27					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)		GACTGCAGCTCTAGGCCGCCG	0.741																																						ENST00000433867.1																			0				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						c.(79-81)Gag>Aag		protein kinase D2							12	17	15					19																	47219549		2138	4213	6351	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47219549C>T	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.79G>A	19.37:g.47219549C>T	ENSP00000291281:p.Glu27Lys					PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000291281.4_Missense_Mutation_p.E27K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K	p.E27K	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	556	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	27					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.79G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.918971	0.33908	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.64618	-0.11;-0.11	4.98	3.9	0.45041	.	0.683360	0.12998	N	0.421876	T	0.41880	0.1178	N	0.08118	0	0.27666	N	0.946926	B;B	0.16166	0.011;0.016	B;B	0.16722	0.014;0.016	T	0.15407	-1.0438	10	0.25106	T	0.35	-15.6361	13.2631	0.60117	0.0:0.8402:0.1598:0.0	.	27;27	E7ER94;Q9BZL6	.;KPCD2_HUMAN	K	27	ENSP00000291281:E27K;ENSP00000393978:E27K	ENSP00000291281:E27K	E	-	1	0	PRKD2	51911389	0.081000	0.21417	0.816000	0.32577	0.287000	0.27160	2.024000	0.41049	2.588000	0.87417	0.486000	0.48141	GAG		0.741	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		4	30	0	0	0	1	0	4	30					T	47219549	C	T	47219549	3	4	377	1	0	0	0	0	1	0	0	0	12519	922	32	2	2629	2	PRKD2	19	47219549	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	23291869	47219549	11909434	54	34500											
SRXN1	140809	broad.mit.edu	37	chr20	629365	629365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggaggctgctactgcAagtctggtgtggatgctccc	14	11	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:629365A>C	ENST00000381962.3	-	2	591	c.407T>G	c.(406-408)tTg>tGg	p.L136W	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	136					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTACTGCAAGTCTGGTGT	0.612																																						ENST00000381962.3																			0				large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						c.(406-408)tTg>tGg		sulfiredoxin 1							127	123	124					20																	629365		2203	4300	6503	SO:0001583	missense	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629365A>C	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 139", "sulfiredoxin 1 homolog (S. cerevisiae)"	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.407T>G	20.37:g.629365A>C	ENSP00000371388:p.Leu136Trp					RP5-850E9.3_ENST00000488788.2_3'UTR	p.L136W	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN			2	591	-			136					B2R543|Q8NDM3|Q96AK6	Missense_Mutation	SNP	ENST00000381962.3	37	c.407T>G	CCDS13005.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643884	0.87859	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.61	5.61	0.85477	.	0.000000	0.49305	U	0.000149	T	0.78130	0.4235	M	0.74647	2.275	0.48341	D	0.999638	D	0.89917	1.0	D	0.85130	0.997	T	0.80852	-0.1197	9	0.87932	D	0	-4.0642	13.1912	0.59711	1.0:0.0:0.0:0.0	.	136	Q9BYN0	SRXN1_HUMAN	W	136	.	ENSP00000371388:L136W	L	-	2	0	SRXN1	577365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.369000	0.90118	2.147000	0.66899	0.533000	0.62120	TTG		0.612	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		9	134	0	0	0	1	0	9	134					C	629365	A	C	629365	3	2	377	1	0	0	0	0	1	0	0	0	15172	131	5	5	10	5	SRXN1	20	629365	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		629365	62396155	55	34501											
CBLN4	140689	broad.mit.edu	37	chr20	54573643	54573643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccagaaagccagaaaaCgtggaatactgccagcctcc	8	13	0	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:54573643C>T	ENST00000064571.2	-	3	1876	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	192	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGCCAGAAAACGTGGAATACT	0.443																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(574-576)acG>acA		cerebellin 4 precursor							114	106	109					20																	54573643		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54573643C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.576G>A	20.37:g.54573643C>T							p.T192T	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1876	-			192			C1q.		A8K0S5	Silent	SNP	ENST00000064571.2	37	c.576G>A	CCDS13448.1																																																																																				0.443	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		15	90	0	0	0	1	0	15	90					T	54573643	C	T	54573643	2	4	377	1	0	0	0	0	0	0	0	1	2707	523	19	1		1	CBLN4	20	54573643	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	53944278	54573643	8451877	56	34502											
DRG1	4733	broad.mit.edu	37	chr22	31796608	31796608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgattcctcccttttagatGgctcggactcaaaagaacaa	8	10	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:31796608G>T	ENST00000331457.4	+	2	206	c.45G>T	c.(43-45)atG>atT	p.M15I	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	15	Required for interaction with STK16.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCTTTTAGATGGCTCGGACTC	0.468																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(43-45)atG>atT		developmentally regulated GTP binding protein 1							74	67	69					22																	31796608		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31796608G>T	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"developmentally regulated GTP-binding protein 1"	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.45G>T	22.37:g.31796608G>T	ENSP00000329715:p.Met15Ile					DRG1_ENST00000433341.1_3'UTR	p.M15I	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			2	206	+			15					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.45G>T	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751285	0.69533	.	.	ENSG00000185721	ENST00000331457	T	0.25579	1.79	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.59436	1.845	0.80722	D	1	B	0.22800	0.075	B	0.23852	0.049	T	0.04855	-1.0922	10	0.34782	T	0.22	.	17.6661	0.88203	0.0:0.0:1.0:0.0	.	15	Q9Y295	DRG1_HUMAN	I	15	ENSP00000329715:M15I	ENSP00000329715:M15I	M	+	3	0	DRG1	30126608	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.598000	0.90852	2.482000	0.83794	0.563000	0.77884	ATG		0.468	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		4	55	1	0	2.56e-06	1	2.64533e-06	4	55					T	31796608	G	T	31796608	3	4	377	1	0	0	0	0	1	0	0	0	4761	1348	47	4	51	4	DRG1	22	31796608	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		31796608	19507958	57	34503											
PARVB	29780	broad.mit.edu	37	chr22	44514963	44514963	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtggaggagaggatcAttgtgaagcagctggaggaa	18	4	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:44514963A>G	ENST00000338758.7	+	4	382	c.319A>G	c.(319-321)Att>Gtt	p.I107V	PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000406477.3_Missense_Mutation_p.I140V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	107	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGAGAGGATCATTGTGAAGCA	0.592																																						ENST00000338758.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(319-321)Att>Gtt		parvin, beta							204	171	182					22																	44514963		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44514963A>G	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.319A>G	22.37:g.44514963A>G	ENSP00000342492:p.Ile107Val					PARVB_ENST00000406477.3_Missense_Mutation_p.I140V|PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000402876.3_Missense_Mutation_p.I107V	p.I107V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			4	382	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	107			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.319A>G	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062173	0.36373	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.92	4.92	0.64577	Calponin homology domain (5);	0.094172	0.64402	D	0.000001	T	0.56202	0.1969	L	0.41415	1.275	0.80722	D	1	P;P;B;P	0.43701	0.793;0.688;0.444;0.815	P;P;P;B	0.51415	0.605;0.669;0.557;0.421	T	0.49952	-0.8884	10	0.11485	T	0.65	-4.9302	12.5015	0.55957	1.0:0.0:0.0:0.0	.	107;70;107;140	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	V	140;107;107;105;70	ENSP00000384515:I140V;ENSP00000342492:I107V;ENSP00000385331:I107V;ENSP00000393758:I105V;ENSP00000384353:I70V	ENSP00000342492:I107V	I	+	1	0	PARVB	42846296	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	8.506000	0.90518	1.836000	0.53414	0.533000	0.62120	ATT		0.592	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		19	30	0	0	0	1	0	19	30					G	44514963	A	G	44514963	3	3	377	1	0	0	0	0	1	0	0	0	11469	217	8	3	552	3	PARVB	22	44514963	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	12718355	44514963	6789603	58	34504											
WWC3	55841	broad.mit.edu	37	chrX	10107547	10107547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagctgcgtgggcagaGccacaaagagcccatccaag	11	14	0	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10107547G>A	ENST00000380861.4	+	22	3570	c.3179G>A	c.(3178-3180)aGc>aAc	p.S1060N	WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1060					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(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGTGGGCAGAGCCACAAAGAG	0.582																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(3178-3180)aGc>aAc		WWC family member 3							104	89	94					X																	10107547		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10107547G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3179G>A	X.37:g.10107547G>A	ENSP00000370242:p.Ser1060Asn					WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			22	3570	+			1060					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.3179G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	8.708	0.911399	0.17833	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.44881	0.91;0.91	4.64	-0.536	0.11876	.	0.182515	0.64402	N	0.000019	T	0.23410	0.0566	N	0.24115	0.695	0.34310	D	0.68532	B	0.11235	0.004	B	0.17722	0.019	T	0.20472	-1.0274	9	.	.	.	-19.1257	8.5729	0.33581	0.6697:0.0:0.3303:0.0	.	1060	Q9ULE0	WWC3_HUMAN	N	1060;1060;555	ENSP00000370242:S1060N;ENSP00000399584:S1060N	.	S	+	2	0	WWC3	10067547	1.000000	0.71417	0.677000	0.29947	0.227000	0.25037	1.699000	0.37804	-0.287000	0.09064	-0.340000	0.08031	AGC		0.582	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		16	73	0	0	0	1	0	16	73					A	10107547	G	A	10107547	3	1	377	1	0	0	0	0	1	0	0	0	17410	971	34	2	3261	2	WWC3	23	10107547	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		10107547	145163013	59	34505											
MID1	4281	broad.mit.edu	37	chrX	10442675	10442675	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gacaatacctgtaaggtaatCcagacattctagcagtttct	7	9	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10442675C>G	ENST00000317552.4	-	6	1529	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H|MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	377	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTAAGGTAATCCAGACATTCT	0.383																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1129-1131)Gat>Cat		midline 1 (Opitz/BBB syndrome)							117	110	112					X																	10442675		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10442675C>G	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1129G>C	X.37:g.10442675C>G	ENSP00000312678:p.Asp377His					MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H|MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H	p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			6	1529	-			377			COS.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1129G>C	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875033	0.72180	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.96	5.96	0.96718	Fibronectin, type III (1);COS domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.989	D;D;D	0.71870	0.958;0.975;0.958	T	0.65923	-0.6050	10	0.66056	D	0.02	.	19.3139	0.94204	0.0:1.0:0.0:0.0	.	377;377;327	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	H	377;377;377;377;377;377;377;327;377	ENSP00000414521:D377H;ENSP00000312678:D377H;ENSP00000370162:D377H;ENSP00000370156:D377H;ENSP00000370164:D377H;ENSP00000370157:D377H;ENSP00000370159:D377H;ENSP00000391154:D377H	ENSP00000312678:D377H	D	-	1	0	MID1	10402675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.308000	0.78929	2.513000	0.84729	0.600000	0.82982	GAT		0.383	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			29	50	0	0	0	1	0	29	50					G	10442675	C	G	10442675	3	3	377	1	0	0	0	0	1	0	0	0	9576	855	30	4	894	4	MID1	23	10442675	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	335128	10442675	144827885	60	34506											
MSN	4478	broad.mit.edu	37	chrX	64947733	64947733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgcagtaccaggacActaaaggtttctccacctgg	10	11	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:64947733A>G	ENST00000360270.5	+	3	326	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	52	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						GTACCAGGACACTAAAGGTTT	0.403			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				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						c.(154-156)Act>Gct		moesin							190	161	171					X																	64947733		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64947733A>G	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.154A>G	X.37:g.64947733A>G	ENSP00000353408:p.Thr52Ala						p.T52A	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			3	326	+			52			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.154A>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548260	0.45383	.	.	ENSG00000147065	ENST00000360270	T	0.75938	-0.98	5.69	4.49	0.54785	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.048350	0.85682	D	0.000000	T	0.56529	0.1991	N	0.17674	0.51	0.58432	D	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.44375	-0.9332	10	0.16896	T	0.51	.	10.1191	0.42609	0.8479:0.0:0.0:0.1521	.	52	P26038	MOES_HUMAN	A	52	ENSP00000353408:T52A	ENSP00000353408:T52A	T	+	1	0	MSN	64864458	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.209000	0.77916	0.741000	0.32674	0.441000	0.28932	ACT		0.403	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		22	25	0	0	0	1	0	22	25					G	64947733	A	G	64947733	3	3	377	1	0	0	0	0	1	0	0	0	9885	159	6	3	164	3	MSN	23	64947733	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	54505058	64947733	90322827	61	34507											
CAPN6	827	broad.mit.edu	37	chrX	110497569	110497569	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggcttgtgccccagtctCccttgggtcagctggtggtt	13	11	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:110497569C>T	ENST00000324068.1	-	3	395	c.228G>A	c.(226-228)ggG>ggA	p.G76G	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	76	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCCCCAGTCTCCCTTGGGTCA	0.468																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(226-228)ggG>ggA		calpain 6							135	111	119					X																	110497569		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110497569C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.228G>A	X.37:g.110497569C>T						CAPN6_ENST00000541758.1_5'UTR	p.G76G	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			3	395	-			76			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.228G>A	CCDS14555.1																																																																																				0.468	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			17	88	0	0	0	1	0	17	88					T	110497569	C	T	110497569	2	4	377	1	0	0	0	0	0	0	0	1	2630	842	30	2		2	CAPN6	23	110497569	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	45549836	110497569	44772991	62	34508											
BCORL1	63035	broad.mit.edu	37	chrX	129190022	129190022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgacagatcccccccaggcTcctctgagactgtggagctg	11	15	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:129190022T>C	ENST00000218147.7	+	13	5244	c.5047T>C	c.(5047-5049)Tcc>Ccc	p.S1683P	BCORL1_ENST00000540052.1_Missense_Mutation_p.S1683P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1683					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						CCCCCCAGGCTCCTCTGAGAC	0.617																																						ENST00000540052.1																			0				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						c.(5047-5049)Tcc>Ccc		BCL6 corepressor-like 1							43	43	43					X																	129190022		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190022T>C	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.5047T>C	X.37:g.129190022T>C	ENSP00000218147:p.Ser1683Pro					BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1683P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P	p.S1683P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5091	+			1683					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.5047T>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	t	15.79	2.938025	0.52972	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.42131	0.98;1.23;0.99;0.98;1.28	4.68	0.419	0.16438	.	0.536026	0.14130	N	0.339451	T	0.40522	0.1120	L	0.54323	1.7	0.09310	N	1	P;P	0.45827	0.867;0.729	P;B	0.47346	0.544;0.391	T	0.25572	-1.0128	10	0.62326	D	0.03	-7.5001	6.2957	0.21085	0.3057:0.0:0.4731:0.2212	.	1757;1683	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	P	1683;1757;1553;1683;1357	ENSP00000218147:S1683P;ENSP00000307541:S1757P;ENSP00000352253:S1553P;ENSP00000437775:S1683P;ENSP00000399483:S1357P	ENSP00000218147:S1683P	S	+	1	0	BCORL1	129017703	0.246000	0.23909	0.984000	0.44739	0.978000	0.69477	-0.029000	0.12329	0.146000	0.19002	0.414000	0.27820	TCC		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		8	95	0	0	0	1	0	8	95					C	129190022	T	C	129190022	3	2	377	1	0	0	0	0	1	0	0	0	1387	1551	54	3	5319	3	BCORL1	23	129190022	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	18692453	129190022	26080538	63	34509											
USP26	83844	broad.mit.edu	37	chrX	132160182	132160182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcgggcactgtttgAaagtcaacttttgagagagg	13	5	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:132160182A>G	ENST00000511190.1	-	6	2536	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	USP26_ENST00000370832.1_Silent_p.F689F|USP26_ENST00000406273.1_Silent_p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	689	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)					GCACTGTTTGAAAGTCAACTT	0.398																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				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						c.(2065-2067)ttT>ttC		ubiquitin specific peptidase 26							78	74	76					X																	132160182		2203	4300	6503	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160182A>G	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.2067T>C	X.37:g.132160182A>G						USP26_ENST00000370832.1_Silent_p.F689F|USP26_ENST00000406273.1_Silent_p.F689F	p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2536	-	Acute lymphoblastic leukemia(192;0.000127)		689					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.2067T>C	CCDS14635.1																																																																																				0.398	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		26	72	0	0	0	1	0	26	72					G	132160182	A	G	132160182	2	3	377	1	0	0	0	0	0	0	0	1	17054	243	9	3		3	USP26	23	132160182	Silent	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	2970160	132160182	23110378	64	34510											
LDOC1	23641	broad.mit.edu	37	chrX	140271196	140271196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagcagcagcaccaacTcatccaccattgcgaacggc	9	16	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140271196T>C	ENST00000370526.2	-	1	114	c.11A>G	c.(10-12)gAg>gGg	p.E4G	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	4					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGCACCAACTCATCCACCAT	0.662																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(10-12)gAg>gGg		leucine zipper, down-regulated in cancer 1							26	21	23					X																	140271196		2198	4292	6490	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271196T>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.11A>G	X.37:g.140271196T>C	ENSP00000359557:p.Glu4Gly					LDOC1_ENST00000460721.1_5'UTR	p.E4G	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	114	-	Acute lymphoblastic leukemia(192;7.65e-05)		4					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.11A>G	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.794045	0.50102	.	.	ENSG00000182195	ENST00000370526	T	0.21191	2.02	3.46	3.46	0.39613	.	0.169863	0.28042	N	0.016825	T	0.12305	0.0299	N	0.22421	0.69	0.24342	N	0.994955	B	0.26445	0.149	B	0.21360	0.034	T	0.14364	-1.0475	10	0.41790	T	0.15	-4.6758	7.546	0.27768	0.0:0.0:0.0:1.0	.	4	O95751	LDOC1_HUMAN	G	4	ENSP00000359557:E4G	ENSP00000359557:E4G	E	-	2	0	LDOC1	140098862	1.000000	0.71417	0.993000	0.49108	0.469000	0.32828	1.943000	0.40253	1.594000	0.50039	0.237000	0.17872	GAG		0.662	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		5	18	0	0	0	1	0	5	18					C	140271196	T	C	140271196	3	2	377	1	0	0	0	0	1	0	0	0	8709	1551	54	3	433	3	LDOC1	23	140271196	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	8111014	140271196	14999364	65	34511											
SPANXC	64663	broad.mit.edu	37	chrX	140335727	140335727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgattctgttctctcGggcgtggtcattcagcagtt	14	8	4	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140335727G>A	ENST00000358993.2	-	2	255	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	73						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R73R(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTGTTCTCTCGGGCGTGGTCA	0.443																																						ENST00000358993.2																			1	Substitution - coding silent(1)	p.R73R(1)	lung(1)	large_intestine(2)|lung(3)|pancreas(1)	6						c.(217-219)Cga>Tga		SPANX family, member C							151	123	133					X																	140335727		2135	4130	6265	SO:0001587	stop_gained	64663					cytoplasm|nucleus		g.chrX:140335727G>A	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.217C>T	X.37:g.140335727G>A	ENSP00000351884:p.Arg73*						p.R73*	NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN			2	255	-	Acute lymphoblastic leukemia(192;7.65e-05)		73					Q32WL9|Q5JX88	Nonsense_Mutation	SNP	ENST00000358993.2	37	c.217C>T	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	g	4.845	0.157168	0.09236	.	.	ENSG00000198573	ENST00000358993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34383	D	0.693339	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	73	.	ENSP00000351884:R73X	R	-	1	2	SPANXC	140163393	0.026000	0.19158	0.004000	0.12327	0.004000	0.04260	0.075000	0.14686	0.328000	0.23435	0.330000	0.21533	CGA		0.443	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		33	93	0	0	0	1	0	33	93					A	140335727	G	A	140335727	4	1	377	1	0	0	0	0	0	1	0	0	14987	1124	39	1	80	1	SPANXC	23	140335727	Nonsense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	64531	140335727	14934833	66	34512											
MAMLD1	10046	broad.mit.edu	37	chrX	149639254	149639254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctagcccaggcttgccacAgcagtccttcaccccacagt	7	18	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:149639254A>G	ENST00000370401.2	+	4	1719	c.1409A>G	c.(1408-1410)cAg>cGg	p.Q470R	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	470					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)					GGCTTGCCACAGCAGTCCTTC	0.592																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1408-1410)cAg>cGg		mastermind-like domain containing 1							70	69	69					X																	149639254		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639254A>G	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.1409A>G	X.37:g.149639254A>G	ENSP00000359428:p.Gln470Arg					MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R	p.Q470R			Q13495	MAMD1_HUMAN			4	1719	+	Acute lymphoblastic leukemia(192;6.56e-05)		470					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1409A>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929500	0.52759	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.83289	0.5222	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.992	D;D;D;D	0.87578	0.997;0.979;0.998;0.979	D	0.84169	0.0433	9	.	.	.	-18.2954	14.8113	0.69996	1.0:0.0:0.0:0.0	.	432;445;445;470	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	R	432;470;445;470;445	ENSP00000359428:Q470R;ENSP00000414517:Q445R;ENSP00000262858:Q470R;ENSP00000397438:Q445R	.	Q	+	2	0	MAMLD1	149389912	1.000000	0.71417	0.991000	0.47740	0.335000	0.28730	5.389000	0.66255	1.879000	0.54435	0.486000	0.48141	CAG		0.592	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		13	107	0	0	0	1	0	13	107					G	149639254	A	G	149639254	3	3	377	1	0	0	0	0	1	0	0	0	9208	188	7	3	1419	3	MAMLD1	23	149639254	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	9303527	149639254	5631306	67	34513											
CALML6	163688	broad.mit.edu	37	chr1	1848242	1848242	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcactaatgggagtttaccAtgagaaggcccagaaccagg	13	9	0	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr1:1848242A>T	ENST00000307786.3	+	4	759	c.305A>T	c.(304-306)cAt>cTt	p.H102L	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	102	EF-hand 2. {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)		GGAGTTTACCATGAGAAGGCC	0.562																																						ENST00000307786.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(304-306)cAt>cTt		calmodulin-like 6							120	132	128					1																	1848242		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848242A>T	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.305A>T	1.37:g.1848242A>T	ENSP00000304643:p.His102Leu					CALML6_ENST00000462293.1_3'UTR	p.H102L	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		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)	4	759	+	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)	102			EF-hand 2.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.305A>T	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275239	0.10403	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.34072	1.38;1.38	3.08	-3.82	0.04281	EF-hand-like domain (1);	.	.	.	.	T	0.16557	0.0398	N	0.14661	0.345	0.09310	N	1	B	0.26935	0.164	B	0.17433	0.018	T	0.18903	-1.0322	9	0.87932	D	0	.	4.1022	0.10018	0.3729:0.343:0.2842:0.0	.	102	Q8TD86	CALL6_HUMAN	L	102;85	ENSP00000304643:H102L;ENSP00000367867:H85L	ENSP00000304643:H102L	H	+	2	0	CALML6	1838102	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	1.031000	0.30165	-0.642000	0.05480	0.260000	0.18958	CAT		0.562	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		9	107	0	0	0	1	0	9	107					T	1848242	A	T	1848242	3	4	378	1	0	0	0	0	1	0	0	0	2590	217	8	5	319	5	CALML6	1	1848242	Missense_Mutation	SNP	A	TCGA-P5-A781-01A-11D-A32B-08		1848242	247402379	1	34514											
ZAK	51776	broad.mit.edu	37	chr2	174131122	174131122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggaacaaatatggaCgtggtagtatatcactcaat	10	6	2	0	rs180986176	byFrequency	TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:174131122C>T	ENST00000375213.3	+	20	2125	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R683C	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		683					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)										CAAATATGGACGTGGTAGTAT	0.458													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		20806	0.0		0.0	False		,,,				2504	0.0					ENST00000375213.3																			0											c.(2047-2049)Cgt>Tgt				C	CYS/ARG	32,3788		0,32,1878	99	101	100		2047	4.9	0.2	2		100	0,8232		0,0,4116	yes	missense	ZAK	NM_016653.2	180	0,32,5994	TT,TC,CC		0.0,0.8377,0.2655	probably-damaging	683/801	174131122	32,12020	1910	4116	6026	SO:0001583	missense	0							g.chr2:174131122C>T																												ENST00000375213.3:c.2047C>T	2.37:g.174131122C>T	ENSP00000364361:p.Arg683Cys					MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R683C|MLK7-AS1_ENST00000422703.1_RNA	p.R683C	NM_016653.2	NP_057737.2					20	2125	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.2047C>T	CCDS42777.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	18.90	3.722150	0.68959	0.008377	0.0	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.76186	-1.0;-1.0	5.86	4.95	0.65309	.	0.227351	0.44483	D	0.000459	T	0.65344	0.2682	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.50490	0.642	T	0.73811	-0.3865	10	0.72032	D	0.01	.	16.3829	0.83481	0.1323:0.8677:0.0:0.0	.	683	Q9NYL2	MLTK_HUMAN	C	683	ENSP00000387259:R683C;ENSP00000364361:R683C	ENSP00000364361:R683C	R	+	1	0	AC013461.1	173839368	0.340000	0.24792	0.250000	0.24296	0.915000	0.54546	2.695000	0.47043	2.781000	0.95711	0.591000	0.81541	CGT		0.458	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			23	41	0	0	0	1	0	23	41					T	174131122	C	T	174131122	3	4	378	1	0	0	0	0	1	0	0	0	17509	536	19	1	2506	1	ZAK	2	174131122	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		174131122	69068251	2	34515											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	31	0	0	0	1	0	14	31					T	209113112	C	T	209113112	3	4	378	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	34981990	209113112	34086261	3	34516											
TRIM27	5987	broad.mit.edu	37	chr6	28887928	28887928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtctagctcctcaaggCgggccaggaggcgatactca	12	13	3	0	rs545778548		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:28887928C>T	ENST00000377199.3	-	3	964	c.608G>A	c.(607-609)cGc>cAc	p.R203H	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	203					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCTCAAGGCGGGCCAGGAG	0.517			T	RET	papillary thyroid								C|||	1	0.000199681	0.0008	0.0	5008	,	,		20031	0.0		0.0	False		,,,				2504	0.0					ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(607-609)cGc>cAc		tripartite motif containing 27							212	187	196					6																	28887928		2203	4300	6503	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28887928C>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.608G>A	6.37:g.28887928C>T	ENSP00000366404:p.Arg203His					TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H	p.R203H	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			3	964	-			203					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.608G>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615738	0.46631	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.63096	0.5;-0.02	4.7	4.7	0.59300	.	0.000000	0.49305	D	0.000152	T	0.37732	0.1014	L	0.56340	1.77	0.29491	N	0.855615	B;B;D	0.54207	0.44;0.293;0.965	B;B;B	0.38156	0.028;0.012;0.266	T	0.43798	-0.9369	10	0.51188	T	0.08	.	9.5284	0.39178	0.0:0.901:0.0:0.099	.	270;203;203	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	H	203	ENSP00000366404:R203H;ENSP00000366399:R203H	ENSP00000366399:R203H	R	-	2	0	TRIM27	28995907	0.000000	0.05858	0.995000	0.50966	0.941000	0.58515	-0.051000	0.11885	2.530000	0.85305	0.655000	0.94253	CGC		0.517	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		18	115	0	0	0	1	0	18	115					T	28887928	C	T	28887928	3	4	378	1	0	0	0	0	1	0	0	0	16498	768	27	1	957	1	TRIM27	6	28887928	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		28887928	142227139	4	34517											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	18	1	1	6			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(643-645)gaG>gaA		zinc finger and BTB domain containing 9							61	61	61					6																	33423522		2203	4300	6503	SO:0001819	synonymous_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423522G>A	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.645G>A	6.37:g.33423522G>A							p.E215E	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	913	+			215					A2AB19	Silent	SNP	ENST00000395064.2	37	c.645G>A	CCDS4780.1																																																																																				0.552	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		3	57	0	0	0	1	0	3	57					A	33423522	G	A	33423522	2	1	378	1	0	0	0	0	0	0	0	1	17555	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-P5-A781-01A-11D-A32B-08	4535594	33423522	137691545	5	34518											
SGCZ	137868	broad.mit.edu	37	chr8	13959903	13959903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctccccttctgtagattgCagatggagctccttcctgca	8	14	1	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:13959903C>T	ENST00000382080.1	-	7	1441	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SGCZ_ENST00000421524.2_Silent_p.L195L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	229					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGTAGATTGCAGATGGAGCT	0.507																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(724-726)ctG>ctA		sarcoglycan, zeta							80	80	80					8																	13959903		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13959903C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.726G>A	8.37:g.13959903C>T						SGCZ_ENST00000421524.2_Silent_p.L195L	p.L242L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	7	1441	-			229					Q6REU0	Silent	SNP	ENST00000382080.1	37	c.726G>A	CCDS5992.2																																																																																				0.507	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		3	47	0	0	0	1	0	3	47					T	13959903	C	T	13959903	2	4	378	1	0	0	0	0	0	0	0	1	14204	697	25	2		2	SGCZ	8	13959903	Silent	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		13959903	132404119	6	34519											
SLC30A8	169026	broad.mit.edu	37	chr8	118183316	118183316	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgtgaaagagcttatTttagcagtcgacggggtgct	15	5	0	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:118183316T>A	ENST00000456015.2	+	7	873	c.873T>A	c.(871-873)atT>atA	p.I291I	SLC30A8_ENST00000427715.2_Silent_p.I242I|SLC30A8_ENST00000521243.1_Silent_p.I242I|SLC30A8_ENST00000519688.1_Silent_p.I242I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	291					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AAGAGCTTATTTTAGCAGTCG	0.453																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(724-726)atT>atA		solute carrier family 30 (zinc transporter), member 8							172	158	163					8																	118183316		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118183316T>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.873T>A	8.37:g.118183316T>A						SLC30A8_ENST00000519688.1_Silent_p.I242I|SLC30A8_ENST00000456015.2_Silent_p.I291I|SLC30A8_ENST00000521243.1_Silent_p.I242I	p.I242I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		10	1160	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		291					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.726T>A	CCDS6322.1																																																																																				0.453	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		9	92	0	0	0	1	0	9	92					A	118183316	T	A	118183316	2	1	378	1	0	0	0	0	0	0	0	1	14561	1829	64	5		5	SLC30A8	8	118183316	Silent	SNP	T	TCGA-P5-A781-01A-11D-A32B-08	104223413	118183316	28180706	7	34520											
DENND3	22898	broad.mit.edu	37	chr8	142185447	142185447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtaagttgtccagctcCgtcaagacaaacctaggcgt	11	10	1	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:142185447C>T	ENST00000262585.2	+	14	2462	c.2184C>T	c.(2182-2184)tcC>tcT	p.S728S	DENND3_ENST00000519811.1_Silent_p.S808S|DENND3_ENST00000424248.1_Silent_p.S676S	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	728					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCAGCTCCGTCAAGACAA	0.547											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2422-2424)tcC>tcT		DENN/MADD domain containing 3							147	126	133					8																	142185447		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142185447C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2184C>T	8.37:g.142185447C>T			OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1669	DENND3_ENST00000262585.2_Silent_p.S728S|DENND3_ENST00000424248.1_Silent_p.S676S	p.S808S			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		14	2494	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		728					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2424C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.527951	0.04112	.	.	ENSG00000105339	ENST00000518668	.	.	.	4.94	-6.11	0.02131	.	.	.	.	.	T	0.35508	0.0934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-12.0667	1.552	0.02577	0.1423:0.2862:0.2999:0.2717	.	.	.	.	C	733	.	.	R	+	1	0	DENND3	142254629	0.000000	0.05858	0.563000	0.28383	0.157000	0.22087	-2.697000	0.00826	-0.767000	0.04633	-0.424000	0.05967	CGT		0.547	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		24	38	0	0	0	1	0	24	38					T	142185447	C	T	142185447	2	4	378	1	0	0	0	0	0	0	0	1	4432	639	23	1		1	DENND3	8	142185447	Silent	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	24002131	142185447	4178575	8	34521											
SLK	9748	broad.mit.edu	37	chr10	105762041	105762041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcagaaaaaacagaaCgtagtaactctgaagataaa	7	7	2	4	rs140715399		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr10:105762041C>T	ENST00000369755.3	+	9	1650	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	SLK_ENST00000335753.4_Missense_Mutation_p.R369C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	369	Glu-rich.				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)		AAAAACAGAACGTAGTAACTC	0.368																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(1105-1107)Cgt>Tgt		STE20-like kinase		C	CYS/ARG	0,4406		0,0,2203	87	94	92		1105	3.6	0.8	10	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLK	NM_014720.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	369/1236	105762041	2,13004	2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762041C>T		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.1105C>T	10.37:g.105762041C>T	ENSP00000358770:p.Arg369Cys					SLK_ENST00000335753.4_Missense_Mutation_p.R369C	p.R369C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1650	+		Colorectal(252;0.178)	369			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1105C>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515814	0.27123	0.0	2.33E-4	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69926	-0.44;-0.44	5.49	3.6	0.41247	Protein kinase-like domain (1);	1.049750	0.07317	N	0.876993	T	0.60183	0.2249	L	0.44542	1.39	0.25159	N	0.990365	P;P	0.50710	0.938;0.897	B;B	0.40101	0.319;0.17	T	0.48822	-0.9001	10	0.51188	T	0.08	.	11.012	0.47667	0.2717:0.6098:0.1184:0.0	.	369;369	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	C	369	ENSP00000336824:R369C;ENSP00000358770:R369C	ENSP00000336824:R369C	R	+	1	0	SLK	105752031	0.007000	0.16637	0.756000	0.31282	0.687000	0.40016	0.689000	0.25437	0.651000	0.30788	0.455000	0.32223	CGT		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		14	134	0	0	0	1	0	14	134					T	105762041	C	T	105762041	3	4	378	1	0	0	0	0	1	0	0	0	14748	536	19	1	1139	1	SLK	10	105762041	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		105762041	29772706	9	34522											
BBOX1	8424	broad.mit.edu	37	chr11	27077073	27077073	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtctctctacccagctgtAtggttgagagacaactgtcc	10	11	2	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:27077073A>G	ENST00000529202.1	+	2	435	c.96A>G	c.(94-96)gtA>gtG	p.V32V	BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Silent_p.V32V|BBOX1_ENST00000527505.1_3'UTR			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	32					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCAGCTGTATGGTTGAGAG	0.468																																						ENST00000263182.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(94-96)gtA>gtG		butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Succinic acid(DB00139)|Vitamin C(DB00126)						103	93	97					11																	27077073		2202	4299	6501	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077073A>G	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.96A>G	11.37:g.27077073A>G						BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Silent_p.V32V|BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V|RP11-1L12.3_ENST00000526061.1_RNA	p.V32V	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			3	464	+			32					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.96A>G	CCDS7862.1																																																																																				0.468	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		7	43	0	0	0	1	0	7	43					G	27077073	A	G	27077073	2	3	378	1	0	0	0	0	0	0	0	1	1334	436	16	3		3	BBOX1	11	27077073	Silent	SNP	A	TCGA-P5-A781-01A-11D-A32B-08		27077073	107929443	10	34523											
EHD1	10938	broad.mit.edu	37	chr11	64622163	64622163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaacggcccgttcatggtgCcgtcaaaggcgccgcccttg	13	15	2	0			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:64622163C>T	ENST00000320631.3	-	5	1501	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	EHD1_ENST00000359393.2_Missense_Mutation_p.G416D|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	416					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						GTTCATGGTGCCGTCAAAGGC	0.672																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1246-1248)gGc>gAc		EH-domain containing 1							124	113	116					11																	64622163		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622163C>T	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.1247G>A	11.37:g.64622163C>T	ENSP00000320516:p.Gly416Asp					EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.G416D	p.G416D	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1501	-			416					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1247G>A	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894224	0.52121	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.44482	2.25;2.25;0.92	4.56	4.56	0.56223	.	0.096470	0.64402	D	0.000001	T	0.42630	0.1211	M	0.62154	1.92	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.42849	-0.9427	10	0.59425	D	0.04	.	14.8614	0.70384	0.0:1.0:0.0:0.0	.	416;416	B2R5U3;Q9H4M9	.;EHD1_HUMAN	D	416;416;392;280	ENSP00000320516:G416D;ENSP00000352354:G416D;ENSP00000391429:G280D	ENSP00000320516:G416D	G	-	2	0	EHD1	64378739	1.000000	0.71417	0.967000	0.41034	0.347000	0.29111	7.576000	0.82467	2.381000	0.81170	0.561000	0.74099	GGC		0.672	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		7	171	0	0	0	1	0	7	171					T	64622163	C	T	64622163	3	4	378	1	0	0	0	0	1	0	0	0	4977	739	26	2	361	2	EHD1	11	64622163	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	37545090	64622163	70384353	11	34524											
SHANK2	22941	broad.mit.edu	37	chr11	70507799	70507799	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcactgtagagagaattcCggggacagcgaccattattg	12	8	1	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:70507799C>T	ENST00000423696.2	-	6	753				SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAGAATTCCGGGGACAGCG	0.542																																						ENST00000449833.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(73-75)cGg>cAg		SH3 and multiple ankyrin repeat domains 2							148	147	147					11																	70507799		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507799C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-16G>A	11.37:g.70507799C>T						SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000423696.2_Intron	p.R25Q	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		1	124	-			0					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	.	23.7	4.449863	0.84101	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.56444	2.37;2.37;0.86;0.46;0.86	4.56	4.56	0.56223	.	.	.	.	.	T	0.32941	0.0846	N	0.08118	0	0.40817	D	0.983475	P;P	0.39520	0.493;0.676	B;B	0.33846	0.089;0.171	T	0.38628	-0.9652	9	0.44086	T	0.13	.	17.342	0.87299	0.0:1.0:0.0:0.0	.	25;25	B7ZKU9;Q9UPX8-4	.;.	Q	25;24;24;25;25	ENSP00000399423:R25Q;ENSP00000386491:R24Q;ENSP00000387324:R24Q;ENSP00000394939:R25Q;ENSP00000349694:R25Q	ENSP00000349694:R25Q	R	-	2	0	SHANK2	70185447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.065000	0.64344	2.081000	0.62600	0.491000	0.48974	CGG		0.542	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	177	0	0	0	1	0	4	177					T	70507799	C	T	70507799	1	4	378	0	1	0	0	0	0	0	0	0	14265	652	23	1		1	SHANK2	11	70507799	Intron	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	5885636	70507799	64498717	12	34525											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	23	6	0	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1054-1056)ccA>ccC		GRB2-associated binding protein 2							44	51	49					11																	77937662		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937662T>G	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1056A>C	11.37:g.77937662T>G						GAB2_ENST00000340149.2_Silent_p.P314P	p.P352P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1141	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		352					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1056A>C	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		6	53	0	0	0	1	0	6	53					G	77937662	T	G	77937662	2	3	378	1	0	0	0	0	0	0	0	1	6149	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-P5-A781-01A-11D-A32B-08	7429863	77937662	57068854	13	34526											
LST-3TM12	338821	broad.mit.edu	37	chr12	21176193	21176193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctctgtttgctaaaatGtatgtggatatcggatatgt	11	4	1	0	rs569319854		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr12:21176193G>A	ENST00000421593.2	+	5	558	c.558G>A	c.(556-558)atG>atA	p.M186I	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.M233I|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.M233I	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	186						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						TTGCTAAAATGTATGTGGATA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		16000	0.0		0.001	False		,,,				2504	0.0					ENST00000381541.3																			0											c.(697-699)atG>atA									181	186	184					12																	21176193		2179	4293	6472	SO:0001583	missense	0							g.chr12:21176193G>A	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.558G>A	12.37:g.21176193G>A	ENSP00000394168:p.Met186Ile					SLCO1B7_ENST00000554957.1_Missense_Mutation_p.M233I|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.M186I	p.M233I							6	764	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.699G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	3.952	-0.012074	0.07727	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80480	-1.38;-1.38;1.31	2.54	0.448	0.16614	.	0.369828	0.30593	N	0.009286	T	0.48169	0.1485	N	0.02169	-0.655	0.22648	N	0.998894	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.36768	-0.9734	10	0.19147	T	0.46	.	4.1647	0.10301	0.2455:0.1892:0.5653:0.0	.	186;233	G3V0H7;F5H094	.;.	I	233;233;186	ENSP00000370952:M233I;ENSP00000452013:M233I;ENSP00000394168:M186I	ENSP00000370952:M233I	M	+	3	0	SLCO1B7;RP11-545J16.1	21067460	0.057000	0.20700	0.802000	0.32245	0.710000	0.40934	-0.814000	0.04486	-0.047000	0.13423	0.195000	0.17529	ATG		0.373	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		3	18	0	0	0	1	0	3	18					A	21176193	G	A	21176193	3	1	378	1	0	0	0	0	1	0	0	0	9066	1377	48	2	576	2	LST-3TM12	12	21176193	Missense_Mutation	SNP	G	TCGA-P5-A781-01A-11D-A32B-08		21176193	112675702	14	34527											
MLLT6	4302	broad.mit.edu	37	chr17	36871961	36871961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggaaaaagtcttccagcCatagcctgagtcataaaggg	12	8	2	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:36871961C>T	ENST00000325718.7	+	9	1007	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	306					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTCTTCCAGCCATAGCCTGAG	0.562			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(916-918)Cat>Tat		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							126	121	123					17																	36871961		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36871961C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.916C>T	17.37:g.36871961C>T	ENSP00000316426:p.His306Tyr					CTB-58E17.9_ENST00000579499.1_RNA	p.H306Y	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			9	1007	+	Breast(7;4.43e-21)		306					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.916C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397785	0.62177	.	.	ENSG00000108292	ENST00000325718	T	0.80909	-1.43	4.91	4.91	0.64330	.	0.138146	0.47093	D	0.000244	D	0.86184	0.5872	M	0.71036	2.16	0.38240	D	0.941304	P	0.45126	0.851	P	0.55391	0.775	D	0.86671	0.1910	10	0.38643	T	0.18	.	14.944	0.71016	0.0:1.0:0.0:0.0	.	306	P55198	AF17_HUMAN	Y	306	ENSP00000316426:H306Y	ENSP00000316426:H306Y	H	+	1	0	MLLT6	34125487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.981000	0.63819	2.571000	0.86741	0.563000	0.77884	CAT		0.562	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		10	23	0	0	0	1	0	10	23					T	36871961	C	T	36871961	3	4	378	1	0	0	0	0	1	0	0	0	9630	594	21	2	950	2	MLLT6	17	36871961	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		36871961	44323249	15	34528											
FOXK2	3607	broad.mit.edu	37	chr17	80541951	80541951	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcactctagtggcgcccagaCccctgagagcctgtcgaggg	13	14	2	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:80541951C>G	ENST00000335255.5	+	6	1340	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	snoU13_ENST00000459591.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	389					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)			GGCGCCCAGACCCCTGAGAGC	0.632																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1165-1167)aCc>aGc		forkhead box K2							39	39	39					17																	80541951		2201	4300	6501	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80541951C>G	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.1166C>G	17.37:g.80541951C>G	ENSP00000335677:p.Thr389Ser						p.T389S	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		6	1340	+	Breast(20;0.00106)|all_neural(118;0.0952)		389					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.1166C>G	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604215	0.87157	.	.	ENSG00000141568	ENST00000535184;ENST00000335255	D	0.94046	-3.34	5.46	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.64170	1.965	0.52099	D	0.999948	P;P	0.51147	0.942;0.815	P;P	0.51945	0.685;0.674	D	0.92444	0.5964	10	0.32370	T	0.25	.	14.409	0.67103	0.0:0.9291:0.0:0.0709	.	389;389	Q01167;Q01167-2	FOXK2_HUMAN;.	S	385;389	ENSP00000335677:T389S	ENSP00000335677:T389S	T	+	2	0	FOXK2	78135240	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.842000	0.62831	1.309000	0.44985	0.655000	0.94253	ACC		0.632	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		3	29	0	0	0	1	0	3	29					G	80541951	C	G	80541951	3	3	378	1	0	0	0	0	1	0	0	0	6015	507	18	4	1188	4	FOXK2	17	80541951	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	43669990	80541951	653259	16	34529											
RIN2	54453	broad.mit.edu	37	chr20	19955639	19955639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atagtctccacacaagccctCggctggccaggactgaaacc	9	15	1	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr20:19955639C>T	ENST00000255006.6	+	8	1266	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	324					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)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CACAAGCCCTCGGCTGGCCAG	0.602																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1117-1119)Cgg>Tgg		Ras and Rab interactor 2							80	85	84					20																	19955639		1954	4156	6110	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955639C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1117C>T	20.37:g.19955639C>T	ENSP00000255006:p.Arg373Trp					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	p.R373W	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1266	+			324					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1117C>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637434	0.67130	.	.	ENSG00000132669	ENST00000255006	T	0.09255	3.0	5.59	3.64	0.41730	.	0.996321	0.08142	N	0.991484	T	0.05640	0.0148	N	0.08118	0	0.80722	D	1	D	0.54047	0.964	B	0.32805	0.153	T	0.50939	-0.8768	9	.	.	.	-2.4601	15.3116	0.74039	0.0:0.6515:0.3485:0.0	.	324	Q8WYP3	RIN2_HUMAN	W	373	ENSP00000255006:R373W	.	R	+	1	2	RIN2	19903639	0.872000	0.30054	0.999000	0.59377	0.974000	0.67602	1.551000	0.36233	0.706000	0.31912	-0.211000	0.12701	CGG		0.602	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			6	41	0	0	0	1	0	6	41					T	19955639	C	T	19955639	3	4	378	1	0	0	0	0	1	0	0	0	13372	875	31	1	996	1	RIN2	20	19955639	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		19955639	43069881	17	34530											
TRMT2A	27037	broad.mit.edu	37	chr22	20104015	20104015	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccccggccctgtagccgCcccagcgccctctttctcca	9	21	2	0			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr22:20104015C>A	ENST00000252136.7	-	2	533	c.145G>T	c.(145-147)Gcg>Tcg	p.A49S	TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S|RANBP1_ENST00000331821.3_5'Flank	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)	49					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						CCTGTAGCCGCCCCAGCGCCC	0.647																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(145-147)Gcg>Tcg		tRNA methyltransferase 2 homolog A (S. cerevisiae)							20	26	24					22																	20104015		2160	4180	6340	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104015C>A	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.145G>T	22.37:g.20104015C>A	ENSP00000252136:p.Ala49Ser					RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S	p.A49S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN			2	533	-			49					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.145G>T	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059246	0.19987	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.41758	0.99;0.99;0.99	4.67	1.3	0.21679	.	0.595355	0.17522	N	0.171210	T	0.18425	0.0442	N	0.14661	0.345	0.18873	N	0.999986	B;B;B	0.15141	0.012;0.004;0.004	B;B;B	0.12156	0.007;0.003;0.002	T	0.25502	-1.0130	10	0.07644	T	0.81	-8.666	4.7073	0.12856	0.1414:0.4876:0.2915:0.0795	.	49;49;49	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	S	49;49;49;49;37	ENSP00000252136:A49S;ENSP00000385807:A49S;ENSP00000395738:A49S	ENSP00000252136:A49S	A	-	1	0	TRMT2A	18484015	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.059000	0.11731	0.187000	0.20147	0.491000	0.48974	GCG		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	44	1	0	0.115264	1	0.115264	3	44					A	20104015	C	A	20104015	3	1	378	1	0	0	0	0	1	0	0	0	16562	739	26	4	1776	4	TRMT2A	22	20104015	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		20104015	31200551	18	34531											
ACOT9	23597	broad.mit.edu	37	chrX	23723894	23723894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattataatacctgagggtgGcaaatttccaaactcttcag	7	8	2	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:23723894G>A	ENST00000336430.7	-	11	1028	c.897C>T	c.(895-897)tgC>tgT	p.C299C	ACOT9_ENST00000379295.1_Silent_p.C239C|ACOT9_ENST00000379303.5_Silent_p.C308C	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	299					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CCTGAGGGTGGCAAATTTCCA	0.373																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(922-924)tgC>tgT		acyl-CoA thioesterase 9							115	130	125					X																	23723894		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723894G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.897C>T	X.37:g.23723894G>A						ACOT9_ENST00000336430.7_Silent_p.C299C|ACOT9_ENST00000379295.1_Silent_p.C239C	p.C308C	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			12	1052	-			299					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.924C>T	CCDS35216.1																																																																																				0.373	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		5	236	0	0	0	1	0	5	236					A	23723894	G	A	23723894	2	1	378	1	0	0	0	0	0	0	0	1	157	1195	42	2		2	ACOT9	23	23723894	Silent	SNP	G	TCGA-P5-A781-01A-11D-A32B-08		23723894	131546666	19	34532											
HUWE1	10075	broad.mit.edu	37	chrX	53576145	53576145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactccatcttgtgtagcagGtccaggggacggttctcatg	13	10	2	0			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:53576145G>T	ENST00000342160.3	-	66	10267	c.9810C>A	c.(9808-9810)gaC>gaA	p.D3270E	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3270					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTGTAGCAGGTCCAGGGGAC	0.493																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9808-9810)gaC>gaA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							157	129	138					X																	53576145		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53576145G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9810C>A	X.37:g.53576145G>T	ENSP00000340648:p.Asp3270Glu					HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E	p.D3270E			Q7Z6Z7	HUWE1_HUMAN			66	10267	-			3270					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9810C>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.838|8.838	0.941435|0.941435	0.18281|0.18281	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.34667|.	1.35;1.35|.	5.88|5.88	2.17|2.17	0.27698|0.27698	.|.	0.196185|.	0.43416|.	D|.	0.000569|.	T|T	0.16471|0.16471	0.0396|0.0396	N|N	0.03324|0.03324	-0.35|-0.35	0.33133|0.33133	D|D	0.543354|0.543354	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.08055|.	0.001;0.003|.	T|T	0.23762|0.23762	-1.0179|-1.0179	10|5	0.07644|.	T|.	0.81|.	.|.	4.419|4.419	0.11470|0.11470	0.3305:0.0:0.5201:0.1493|0.3305:0.0:0.5201:0.1493	.|.	3270;3254|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	E|T	3270|2304;108	ENSP00000340648:D3270E;ENSP00000262854:D3270E|.	ENSP00000262854:D3270E|.	D|P	-|-	3|1	2|0	HUWE1|HUWE1	53592870|53592870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.688000|0.688000	0.25422|0.25422	0.250000|0.250000	0.21479|0.21479	0.600000|0.600000	0.82982|0.82982	GAC|CCT		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		29	138	1	0	3.65163e-15	1	4.01679e-15	29	138					T	53576145	G	T	53576145	3	4	378	1	0	0	0	0	1	0	0	0	7461	1252	44	4	3386	4	HUWE1	23	53576145	Missense_Mutation	SNP	G	TCGA-P5-A781-01A-11D-A32B-08	29852251	53576145	101694415	20	34533											
FAM123B	139285	broad.mit.edu	37	chrX	63411230	63411230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagacgggcttctcctgcCgggcctgggtctctcggact	13	14	2	1	rs147754688	byFrequency	TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:63411230C>T	ENST00000330258.3	-	2	2209	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	AMER1_ENST00000403336.1_Missense_Mutation_p.R646Q|AMER1_ENST00000374869.3_Missense_Mutation_p.R646Q	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	646					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)									CTTCTCCTGCCGGGCCTGGGT	0.612													C|||	1	0.000264901	0.0008	0.0	3775	,	,		11763	0.0		0.0	False		,,,				2504	0.0					ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1936-1938)cGg>cAg		APC membrane recruitment protein 1							26	25	25					X																	63411230		2203	4299	6502	SO:0001583	missense	139285							g.chrX:63411230C>T	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.1937G>A	X.37:g.63411230C>T	ENSP00000329117:p.Arg646Gln					AMER1_ENST00000403336.1_Missense_Mutation_p.R646Q|AMER1_ENST00000374869.3_Missense_Mutation_p.R646Q	p.R646Q	NM_152424.3	NP_689637.3					2	2209	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1937G>A	CCDS14377.2	2	0.0012055455093429777	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	1.346	-0.592812	0.03771	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.48836	0.92;0.8;0.92	5.21	-0.738	0.11125	.	1.395690	0.04355	N	0.356433	T	0.30947	0.0781	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21861	-1.0233	10	0.26408	T	0.33	6.032	9.7257	0.40330	0.0:0.456:0.0:0.544	.	646	Q5JTC6	F123B_HUMAN	Q	646	ENSP00000364003:R646Q;ENSP00000329117:R646Q;ENSP00000384722:R646Q	ENSP00000329117:R646Q	R	-	2	0	FAM123B	63327955	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.353000	0.02617	-0.200000	0.10300	0.600000	0.82982	CGG		0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	23	0	0	0	1	0	13	23					T	63411230	C	T	63411230	3	4	378	1	0	0	0	0	1	0	0	0	5423	652	23	1	1474	1	FAM123B	23	63411230	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	9835085	63411230	91859330	21	34534											
DACH2	117154	broad.mit.edu	37	chrX	85906101	85906101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagcttatggctatgAacactcttcagggaaatgga	11	6	2	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:85906101A>G	ENST00000373125.4	+	4	703	c.703A>G	c.(703-705)Aac>Gac	p.N235D	DACH2_ENST00000508860.1_Missense_Mutation_p.N68D|DACH2_ENST00000373131.1_Missense_Mutation_p.N222D|DACH2_ENST00000510272.1_Missense_Mutation_p.N16D	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	235					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TATGGCTATGAACACTCTTCA	0.408																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(664-666)Aac>Gac		dachshund homolog 2 (Drosophila)							96	75	82					X																	85906101		2203	4299	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906101A>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.703A>G	X.37:g.85906101A>G	ENSP00000362217:p.Asn235Asp					DACH2_ENST00000510272.1_Missense_Mutation_p.N16D|DACH2_ENST00000373125.4_Missense_Mutation_p.N235D|DACH2_ENST00000508860.1_Missense_Mutation_p.N68D	p.N222D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			3	827	+			235					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.664A>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774286	0.69992	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.84660	-1.86;-1.88	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	D	0.85008	0.5599	L	0.47716	1.5	0.46874	D	0.999238	D;P;P	0.63046	0.992;0.868;0.774	P;P;B	0.55785	0.784;0.712;0.416	T	0.81353	-0.0971	10	0.11182	T	0.66	.	13.0694	0.59053	1.0:0.0:0.0:0.0	.	101;222;235	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	D	235;222;235;68;16;68	ENSP00000362223:N222D;ENSP00000362217:N235D	ENSP00000345134:N235D	N	+	1	0	DACH2	85792757	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	6.576000	0.74023	1.452000	0.47756	0.417000	0.27973	AAC		0.408	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	16	0	0	0	1	0	9	16					G	85906101	A	G	85906101	3	3	378	1	0	0	0	0	1	0	0	0	4221	246	9	3	717	3	DACH2	23	85906101	Missense_Mutation	SNP	A	TCGA-P5-A781-01A-11D-A32B-08	22494871	85906101	69364459	22	34535											
CD1A	909	broad.mit.edu	37	chr1	158226067	158226067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcacatctccagcGgcaaggtcagtcctgcactc	11	13	2	0	rs200394336		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:158226067G>A	ENST00000289429.5	+	3	1132	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CATCTCCAGCGGCAAGGTCAG	0.463																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(598-600)cGg>cAg		CD1a molecule	Antithymocyte globulin(DB00098)						112	94	100					1																	158226067		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226067G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.599G>A	1.37:g.158226067G>A	ENSP00000289429:p.Arg200Gln						p.R200Q	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	1132	+	all_hematologic(112;0.0378)		200			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.599G>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019768	0.35606	.	.	ENSG00000158477	ENST00000289429	T	0.19394	2.15	4.23	1.07	0.20283	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.12561	0.0305	M	0.83692	2.655	0.09310	N	1	D	0.65815	0.995	P	0.45343	0.477	T	0.07849	-1.0751	10	0.54805	T	0.06	-16.0605	3.9433	0.09338	0.2098:0.0:0.6045:0.1857	.	200	P06126	CD1A_HUMAN	Q	200	ENSP00000289429:R200Q	ENSP00000289429:R200Q	R	+	2	0	CD1A	156492691	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.525000	0.35953	0.428000	0.26173	-0.244000	0.11960	CGG		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		9	74	0	0	0	1	0	9	74					A	158226067	G	A	158226067	3	1	379	1	0	0	0	0	1	0	0	0	2974	1116	39	1	609	1	CD1A	1	158226067	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		158226067	91024554	1	34536											
LGR6	59352	broad.mit.edu	37	chr1	202288165	202288165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccaggggcccccaggCtggagggcagccattgtgta	16	12	0	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:202288165C>T	ENST00000367278.3	+	18	2823	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	LGR6_ENST00000255432.7_Silent_p.L860L|LGR6_ENST00000439764.2_Silent_p.L773L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	912					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						GGCCCCCAGGCTGGAGGGCAG	0.627																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2734-2736)Ctg>Ttg		leucine-rich repeat containing G protein-coupled receptor 6							42	49	47					1																	202288165		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288165C>T	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.2734C>T	1.37:g.202288165C>T						LGR6_ENST00000255432.7_Silent_p.L860L|LGR6_ENST00000439764.2_Silent_p.L773L	p.L912L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2823	+			912					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2734C>T	CCDS30971.1																																																																																				0.627	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		36	65	0	0	0	1	0	36	65					T	202288165	C	T	202288165	2	4	379	1	0	0	0	0	0	0	0	1	8758	796	28	2		2	LGR6	1	202288165	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	44062098	202288165	46962456	2	34537											
OBSCN	84033	broad.mit.edu	37	chr1	228437883	228437883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcatgccaggcggacacCggggagtatagctgcgaggc	17	11	0	0	rs371848043|rs35326243		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:228437883C>T	ENST00000422127.1	+	14	4295	c.4251C>T	c.(4249-4251)acC>acT	p.T1417T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.T1509T|OBSCN_ENST00000284548.11_Silent_p.T1417T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1417	Ig-like 14.			T -> A (in Ref. 1; CAC85746). {ECO:0000305}.	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)				AGGCGGACACCGGGGAGTATA	0.642																																						ENST00000570156.2																			0				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						c.(4525-4527)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	1,4111		0,1,2055	67	77	74		4251,4251	-7	0	1		74	0,8382		0,0,4191	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6246	TT,TC,CC		0.0,0.0243,0.0080	,	1417/7969,1417/6621	228437883	1,12493	2056	4191	6247	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437883C>T	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.4251C>T	1.37:g.228437883C>T						OBSCN_ENST00000284548.11_Silent_p.T1417T|OBSCN_ENST00000422127.1_Silent_p.T1417T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.T1509T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4601	+		Prostate(94;0.0405)	487			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4527C>T	CCDS58065.1																																																																																				0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	192	0	0	0	1	0	4	192					T	228437883	C	T	228437883	2	4	379	1	0	0	0	0	0	0	0	1	10812	639	23	1		1	OBSCN	1	228437883	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	26149718	228437883	20812738	3	34538											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	31	0	0	0	1	0	17	31					T	209113112	C	T	209113112	3	4	379	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		209113112	34086261	4	34539											
COL7A1	1294	broad.mit.edu	37	chr3	48611977	48611977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtctcctttgatgcctgGcacaccctgaaggcagagtg	12	13	1	3	rs148638156	byFrequency	TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:48611977G>A	ENST00000328333.8	-	78	6507	c.6400C>T	c.(6400-6402)Cca>Tca	p.P2134S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2134	Triple-helical region.				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)		TTGATGCCTGGCACACCCTGA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19666	0.0		0.0	False		,,,				2504	0.0					ENST00000328333.8																			0				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						c.(6400-6402)Cca>Tca		collagen, type VII, alpha 1		G	SER/PRO	4,4402	8.1+/-20.4	0,4,2199	59	53	55		6400	2.4	0.1	3	dbSNP_134	55	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	74	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	2134/2945	48611977	4,13002	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611977G>A	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.6400C>T	3.37:g.48611977G>A	ENSP00000332371:p.Pro2134Ser					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	p.P2134S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	78	6507	-			2134			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6400C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172054	0.21704	9.08E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.95518	-3.73;-3.73	5.23	2.38	0.29361	.	0.000000	0.40064	N	0.001190	D	0.92286	0.7553	M	0.64260	1.97	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	D	0.83425	0.0035	10	0.33940	T	0.23	.	7.203	0.25891	0.1603:0.3686:0.4711:0.0	.	2134	Q02388	CO7A1_HUMAN	S	2134;2102	ENSP00000332371:P2134S;ENSP00000412569:P2102S	ENSP00000332371:P2134S	P	-	1	0	COL7A1	48586981	0.007000	0.16637	0.084000	0.20598	0.182000	0.23217	0.560000	0.23500	0.686000	0.31488	0.563000	0.77884	CCA		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	81	0	0	0	1	0	4	81					A	48611977	G	A	48611977	3	1	379	1	0	0	0	0	1	0	0	0	3704	1203	42	2	2598	2	COL7A1	3	48611977	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		48611977	149410453	5	34540											
USP4	7375	broad.mit.edu	37	chr3	49323550	49323550	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagttgagtttaagtagtttTccatcagctgcaagtgaatt	9	6	1	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:49323550T>A	ENST00000265560.4	-	16	2227	c.2181A>T	c.(2179-2181)ggA>ggT	p.G727G	USP4_ENST00000351842.4_Silent_p.G680G	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	727	USP.				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)			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)		TAAGTAGTTTTCCATCAGCTG	0.413																																						ENST00000351842.4																			0				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						c.(2038-2040)ggA>ggT		ubiquitin specific peptidase 4 (proto-oncogene)							134	124	127					3																	49323550		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49323550T>A	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.2181A>T	3.37:g.49323550T>A						USP4_ENST00000265560.4_Silent_p.G727G	p.G680G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		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)	15	2048	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	727					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.2040A>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	9.044	0.990314	0.18966	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.57	-8.6	0.00889	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8928	12.8608	0.57911	0.0:0.5403:0.091:0.3687	.	.	.	.	X	466	.	.	K	-	1	0	USP4	49298554	0.473000	0.25878	0.479000	0.27329	0.963000	0.63663	-0.561000	0.05957	-1.637000	0.01531	0.260000	0.18958	AAA		0.413	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		31	43	0	0	0	1	0	31	43					A	49323550	T	A	49323550	2	1	379	1	0	0	0	0	0	0	0	1	17068	1770	62	5		5	USP4	3	49323550	Silent	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08	711573	49323550	148698880	6	34541											
ZBED2	79413	broad.mit.edu	37	chr3	111312789	111312789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgttgaccccagggccaCggctcacctgcctgccacac	9	20	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:111312789C>T	ENST00000317012.4	-	2	1268	c.260G>A	c.(259-261)cGt>cAt	p.R87H	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	87							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						CCCAGGGCCACGGCTCACCTG	0.602																																						ENST00000317012.4																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(259-261)cGt>cAt		zinc finger, BED-type containing 2							65	66	66					3																	111312789		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312789C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"Zinc fingers, BED-type"	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.260G>A	3.37:g.111312789C>T	ENSP00000321370:p.Arg87His					CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	p.R87H	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN			2	1268	-			87					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.260G>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187710	0.57909	.	.	ENSG00000177494	ENST00000317012	.	.	.	4.42	2.08	0.27032	Zinc finger, BED-type predicted (3);	0.175457	0.27284	U	0.020064	T	0.24812	0.0602	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.16512	-1.0400	9	0.59425	D	0.04	-0.9271	5.9054	0.18998	0.0:0.6805:0.0:0.3195	.	87	Q9BTP6	ZBED2_HUMAN	H	87	.	ENSP00000321370:R87H	R	-	2	0	ZBED2	112795479	0.916000	0.31088	0.020000	0.16555	0.925000	0.55904	0.404000	0.20999	0.742000	0.32697	0.467000	0.42956	CGT		0.602	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		35	66	0	0	0	1	0	35	66					T	111312789	C	T	111312789	3	4	379	1	0	0	0	0	1	0	0	0	17515	536	19	1	400	1	ZBED2	3	111312789	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	61989239	111312789	86709641	7	34542											
ZBTB20	26137	broad.mit.edu	37	chr3	114058216	114058216	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccatgtgcttgataAggtaatcctttaaggagaag	11	6	1	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:114058216A>T	ENST00000474710.1	-	5	2040	c.1862T>A	c.(1861-1863)cTt>cAt	p.L621H	ZBTB20_ENST00000462705.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	621						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGCTTGATAAGGTAATCCTT	0.522																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1642-1644)cTt>cAt		zinc finger and BTB domain containing 20							145	125	132					3																	114058216		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058216A>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1862T>A	3.37:g.114058216A>T	ENSP00000419153:p.Leu621His					ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L621H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H	p.L548H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2464	-			621					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1643T>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284611	0.59867	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.16196	2.52;2.52;2.52;2.52;2.36;2.52;2.52	6.17	6.17	0.99709	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	0.57651	0.2068	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72033	-0.4412	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	621	Q9HC78	ZBT20_HUMAN	H	548;548;548;548;621;548;548	ENSP00000420324:L548H;ENSP00000377375:L548H;ENSP00000418092:L548H;ENSP00000419902:L548H;ENSP00000419153:L621H;ENSP00000349803:L548H;ENSP00000417307:L548H	ENSP00000349803:L548H	L	-	2	0	ZBTB20	115540906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CTT		0.522	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		33	72	0	0	0	1	0	33	72					T	114058216	A	T	114058216	3	4	379	1	0	0	0	0	1	0	0	0	17526	72	3	5	367	5	ZBTB20	3	114058216	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	2745427	114058216	83964214	8	34543											
TLR1	7096	broad.mit.edu	37	chr4	38800242	38800242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaattatcaaaatcctcaGttttgacagtgataagatgt	7	5	2	4			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:38800242G>T	ENST00000502213.2	-	3	440	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TLR1_ENST00000308979.2_Missense_Mutation_p.L71M			Q15399	TLR1_HUMAN	toll-like receptor 1	71					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATCCTCAGTTTTGACAGT	0.333																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(211-213)Ctg>Atg		toll-like receptor 1							103	114	111					4																	38800242		2202	4299	6501	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800242G>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.211C>A	4.37:g.38800242G>T	ENSP00000421259:p.Leu71Met					TLR1_ENST00000502213.2_Missense_Mutation_p.L71M	p.L71M	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	484	-			71					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.211C>A	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846303	0.51164	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861	T;T;T;D	0.95554	0.12;0.12;2.09;-3.74	4.93	4.93	0.64822	.	0.000000	0.51477	D	0.000099	D	0.97636	0.9225	M	0.86651	2.83	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.97717	1.0194	10	0.87932	D	0	.	12.0942	0.53744	0.0784:0.0:0.9216:0.0	.	71	Q15399	TLR1_HUMAN	M	71	ENSP00000354932:L71M;ENSP00000421259:L71M;ENSP00000421856:L71M;ENSP00000423017:L71M	ENSP00000354932:L71M	L	-	1	2	TLR1	38476637	1.000000	0.71417	0.992000	0.48379	0.159000	0.22180	4.107000	0.57811	2.713000	0.92767	0.655000	0.94253	CTG		0.333	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			25	137	1	0	5.61819e-17	1	5.85726e-17	25	137					T	38800242	G	T	38800242	3	4	379	1	0	0	0	0	1	0	0	0	15946	1020	36	4	2153	4	TLR1	4	38800242	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		38800242	152354034	9	34544											
ANKRD17	26057	broad.mit.edu	37	chr4	73944453	73944453	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagatggagctgacgttccAgtttgcctgatacgtgcaga	12	9	0	4			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:73944453A>C	ENST00000358602.4	-	31	7430	c.7314T>G	c.(7312-7314)acT>acG	p.T2438T	ANKRD17_ENST00000509867.2_Silent_p.T2325T|ANKRD17_ENST00000330838.6_Silent_p.T2187T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2438					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACGTTCCAGTTTGCCTGA	0.483																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7312-7314)acT>acG		ankyrin repeat domain 17							128	108	115					4																	73944453		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73944453A>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7314T>G	4.37:g.73944453A>C						ANKRD17_ENST00000330838.6_Silent_p.T2187T|ANKRD17_ENST00000509867.2_Silent_p.T2325T	p.T2438T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		31	7430	-	Breast(15;0.000295)		2438					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.7314T>G	CCDS34004.1																																																																																				0.483	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		15	46	0	0	0	1	0	15	46					C	73944453	A	C	73944453	2	2	379	1	0	0	0	0	0	0	0	1	646	175	7	5		5	ANKRD17	4	73944453	Silent	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	35144211	73944453	117209823	10	34545											
LRBA	987	broad.mit.edu	37	chr4	151271293	151271293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgaagctggcaggaaaCaaattcactctccagggcct	11	10	2	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:151271293C>A	ENST00000357115.3	-	49	7489	c.7246G>T	c.(7246-7248)Gtt>Ttt	p.V2416F	LRBA_ENST00000535741.1_Missense_Mutation_p.V2405F|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F|LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2416	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGCAGGAAACAAATTCACTC	0.378																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7213-7215)Gtt>Ttt		LPS-responsive vesicle trafficking, beach and anchor containing							78	74	76					4																	151271293		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151271293C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7246G>T	4.37:g.151271293C>A	ENSP00000349629:p.Val2416Phe					LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.V2416F|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F	p.V2405F			P50851	LRBA_HUMAN			48	7686	-	all_hematologic(180;0.151)		2416			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7213G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.953948|4.953948	0.92660|0.92660	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.74737	.|-0.87;-0.87;-0.87;-0.87	5.69|5.69	5.69|5.69	0.88448|0.88448	.|BEACH domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91576|0.91576	0.7339|0.7339	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.93826|0.93826	0.7123|0.7123	5|10	.|0.87932	.|D	.|0	.|.	19.8155|19.8155	0.96566|0.96566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2416;2405;306	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	F|F	1057|2405;2405;2416;2405	.|ENSP00000446299:V2405F;ENSP00000421552:V2405F;ENSP00000349629:V2416F;ENSP00000422180:V2405F	.|ENSP00000349629:V2416F	L|V	-|-	3|1	2|0	LRBA|LRBA	151490743|151490743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.691000|2.691000	0.91804|0.91804	0.563000|0.563000	0.77884|0.77884	TTG|GTT		0.378	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			21	34	1	0	1.22574e-08	1	1.25127e-08	21	34					A	151271293	C	A	151271293	3	1	379	1	0	0	0	0	1	0	0	0	8931	478	17	4	1385	4	LRBA	4	151271293	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	77326840	151271293	39882983	11	34546											
DNAJC21	134218	broad.mit.edu	37	chr5	34937583	34937583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgggacaaagcaaggaaAgagaagaatgagcttgtccg	13	6	0	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:34937583A>C	ENST00000342382.4	+	5	818	c.591A>C	c.(589-591)aaA>aaC	p.K197N	DNAJC21_ENST00000382021.2_Missense_Mutation_p.K197N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	197					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)			AAGCAAGGAAAGAGAAGAATG	0.428																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(589-591)aaA>aaC		DnaJ (Hsp40) homolog, subfamily C, member 21							62	70	68					5																	34937583		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34937583A>C		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.591A>C	5.37:g.34937583A>C	ENSP00000343728:p.Lys197Asn					DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N|DNAJC21_ENST00000342382.4_Missense_Mutation_p.K197N	p.K197N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	818	+	all_lung(31;7.08e-05)		197					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.591A>C	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215294	0.79352	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.55930	0.55;0.5;0.49	5.39	2.98	0.34508	.	0.048094	0.85682	D	0.000000	T	0.67859	0.2938	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.973;0.969;0.988	T	0.68142	-0.5487	10	0.62326	D	0.03	-16.0482	7.5634	0.27864	0.6814:0.0:0.3186:0.0	.	197;197;197	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	N	197	ENSP00000343728:K197N;ENSP00000371451:K197N;ENSP00000306289:K197N	ENSP00000306289:K197N	K	+	3	2	DNAJC21	34973340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.243000	0.32767	0.960000	0.38005	0.528000	0.53228	AAA		0.428	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		9	63	0	0	0	1	0	9	63					C	34937583	A	C	34937583	3	2	379	1	0	0	0	0	1	0	0	0	4640	69	3	5	609	5	DNAJC21	5	34937583	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08		34937583	145977677	12	34547											
SLCO4C1	353189	broad.mit.edu	37	chr5	101593012	101593012	+	Frame_Shift_Del	DEL	C	C	-													agctccaggaattaaaacagCccctaataagaaaaaagaat							TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:101593012delC	ENST00000310954.6	-	8	1562	c.1276delG	c.(1276-1278)gctfs	p.A426fs		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTAAAACAGCCCCTAATAAG	0.348																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1276-1278)ctfs		solute carrier organic anion transporter family, member 4C1							45	46	46					5																	101593012		2203	4300	6503	SO:0001589	frameshift_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593012delC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1276delG	5.37:g.101593012delC	ENSP00000309741:p.Ala426fs						p.A426fs	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1562	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	426						Frame_Shift_Del	DEL	ENST00000310954.6	37	c.1276delG	CCDS34205.1																																																																																				0.348	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		7	27						7	27	---	---	---	---	-	101593012	C	-	101593012	7	5	379	1	0	1	0	1	0	0	0	0	14730	739	26	0	922	0	SLCO4C1	5	101593012	Frame_Shift_Del	DEL	C	TCGA-QH-A65R-01A-21D-A31L-08	66655429	101593012	79322248	13	34548											
FAM50B	26240	broad.mit.edu	37	chr6	3850195	3850195	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtggacaagaggttctcGgcgcattacgacgccgtgga	15	10	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:3850195G>T	ENST00000380274.1	+	1	576	c.150G>T	c.(148-150)tcG>tcT	p.S50S	FAM50B_ENST00000380272.3_Silent_p.S50S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	50						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAGGTTCTCGGCGCATTACG	0.642																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(148-150)tcG>tcT		family with sequence similarity 50, member B							56	51	53					6																	3850195		2203	4300	6503	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850195G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.150G>T	6.37:g.3850195G>T						FAM50B_ENST00000380272.3_Silent_p.S50S	p.S50S			Q9Y247	FA50B_HUMAN			1	576	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	50					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.150G>T	CCDS4487.1																																																																																				0.642	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	40	1	0	1	1	1	3	40					T	3850195	G	T	3850195	2	4	379	1	0	0	0	0	0	0	0	1	5578	1103	39	4		4	FAM50B	6	3850195	Silent	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		3850195	167264872	14	34549											
MICAL1	64780	broad.mit.edu	37	chr6	109765438	109765438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctcgctgagcctgcGctcctcctggaagcggatga	14	14	0	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:109765438G>A	ENST00000358807.3	-	25	3471	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C	MICAL1_ENST00000368952.4_Missense_Mutation_p.R1073C|MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1054					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)		CTGAGCCTGCGCTCCTCCTGG	0.617																																						ENST00000368952.4																			0				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						c.(3217-3219)Cgc>Tgc		microtubule associated monooxygenase, calponin and LIM domain containing 1							37	39	38					6																	109765438		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109765438G>A	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.3160C>T	6.37:g.109765438G>A	ENSP00000351664:p.Arg1054Cys					MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1054C	p.R1073C			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	25	3507	-		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)	1054					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.3217C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819937	0.32145	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.44482	0.92;0.92;0.92	5.49	-0.0709	0.13745	Domain of unknown function DUF3585 (1);	0.670270	0.15324	N	0.268386	T	0.13072	0.0317	L	0.36672	1.1	0.21290	N	0.99974	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.30909	-0.9962	10	0.72032	D	0.01	.	7.3579	0.26729	0.5729:0.0:0.4271:0.0	.	1073;968;1054	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	C	1054;1073;968;578;310	ENSP00000351664:R1054C;ENSP00000357948:R1073C;ENSP00000351385:R968C	ENSP00000335372:R310C	R	-	1	0	MICAL1	109872131	0.148000	0.22702	0.214000	0.23707	0.736000	0.42039	0.407000	0.21049	0.042000	0.15717	0.462000	0.41574	CGC		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		26	38	0	0	0	1	0	26	38					A	109765438	G	A	109765438	3	1	379	1	0	0	0	0	1	0	0	0	9569	1087	38	1	47	1	MICAL1	6	109765438	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	105915243	109765438	61349629	15	34550											
PTDSS1	9791	broad.mit.edu	37	chr8	97321825	97321825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacacacagtgcaagcgcGtaggaacacaatgctgggtg	13	11	0	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:97321825G>A	ENST00000517309.1	+	9	1374	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I|Y_RNA_ENST00000362862.1_RNA	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1048-1050)Gta>Ata		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						97	90	92					8																	97321825		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97321825G>A	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1048G>A	8.37:g.97321825G>A	ENSP00000430548:p.Val350Ile					PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I	p.V350I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			9	1374	+	Breast(36;6.18e-05)		350					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1048G>A	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211441	0.95069	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.48836	0.84;0.86;0.8	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.32530	0.975	0.80722	D	1	P	0.51240	0.943	P	0.48270	0.572	T	0.29366	-1.0014	10	0.34782	T	0.22	-13.7834	18.224	0.89911	0.0:0.0:1.0:0.0	.	350	P48651	PTSS1_HUMAN	I	350;204;147	ENSP00000430548:V350I;ENSP00000401248:V204I;ENSP00000430928:V147I	ENSP00000401248:V204I	V	+	1	0	PTDSS1	97391001	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.837000	0.99465	2.731000	0.93534	0.650000	0.86243	GTA		0.433	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			21	31	0	0	0	1	0	21	31					A	97321825	G	A	97321825	3	1	379	1	0	0	0	0	1	0	0	0	12736	1145	40	1	1082	1	PTDSS1	8	97321825	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		97321825	49042197	16	34551											
OC90	729330	broad.mit.edu	37	chr8	133053772	133053772	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtggaactcacttacCtgtcagattcatccacaggc	7	14	3	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:133053772C>T	ENST00000443356.2	-	5	430	c.344G>A	c.(343-345)aGc>aAc	p.S115N	OC90_ENST00000262283.5_Splice_Site_p.S311N|OC90_ENST00000603859.1_Splice_Site_p.S115N|OC90_ENST00000254627.3_Splice_Site_p.S115N			Q02509	OC90_HUMAN	otoconin 90	115	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTCACTTACCTGTCAGATTC	0.512																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.e8+1		otoconin 90							44	44	44					8																	133053772		1954	4147	6101	SO:0001630	splice_region_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053772C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.344+1G>A	8.37:g.133053772C>T						OC90_ENST00000443356.2_Splice_Site_p.S115_splice|OC90_ENST00000603859.1_Splice_Site_p.S115_splice|OC90_ENST00000254627.3_Splice_Site_p.S115_splice	p.S311_splice			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	1031	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		115					B4DNG8	Splice_Site	SNP	ENST00000443356.2	37	c.932_splice		.	.	.	.	.	.	.	.	.	.	C	12.09	1.833271	0.32421	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26660	1.72;1.72;1.72	4.4	3.51	0.40186	Phospholipase A2 (3);	0.453258	0.24937	N	0.034413	T	0.34658	0.0905	L	0.61387	1.9	0.20196	N	0.999928	P;P	0.45011	0.817;0.848	P;P	0.53760	0.615;0.734	T	0.11817	-1.0572	9	.	.	.	-5.1649	5.244	0.15487	0.2036:0.6833:0.0:0.1131	.	115;115	Q02509-2;Q02509	.;OC90_HUMAN	N	115;115;311	ENSP00000254627:S115N;ENSP00000390050:S115N;ENSP00000262283:S311N	.	S	-	2	0	RP11-240B13.2;OC90	133122954	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	1.154000	0.31688	0.786000	0.33708	0.591000	0.81541	AGC		0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	Missense_Mutation	24	35	0	0	0	1	0	24	35					T	133053772	C	T	133053772	5	4	379	1	0	0	0	0	0	0	1	0	10814	695	24	2	1129	2	OC90	8	133053772	Splice_Site	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	35731947	133053772	13310250	17	34552											
EPPK1	83481	broad.mit.edu	37	chr8	144942068	144942068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcaaacctccccacgCgcatttttgcagttctggat	9	13	2	0	rs189786019		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:144942068C>T	ENST00000525985.1	-	2	5425	c.5354G>A	c.(5353-5355)cGc>cAc	p.R1785H				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R1785H(1)		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)			CCTCCCCACGCGCATTTTTGC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			1	Substitution - Missense(1)	p.R1785H(1)	central_nervous_system(1)	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						c.(5353-5355)cGc>cAc		epiplakin 1							106	104	105					8																	144942068		1976	4159	6135	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942068C>T	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.5354G>A	8.37:g.144942068C>T	ENSP00000436337:p.Arg1785His						p.R1785H			P58107	EPIPL_HUMAN	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)		2	5425	-	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)		1785					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5354G>A		.	.	.	.	.	.	.	.	.	.	C	8.588	0.883842	0.17467	.	.	ENSG00000227184	ENST00000525985	T	0.66815	-0.23	5.2	-5.35	0.02697	.	.	.	.	.	T	0.33352	0.0860	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.13229	-1.0517	9	0.35671	T	0.21	.	3.5406	0.07809	0.1056:0.3692:0.1071:0.4181	.	1785	E9PPU0	.	H	1785	ENSP00000436337:R1785H	ENSP00000436337:R1785H	R	-	2	0	EPPK1	145014056	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.582000	0.05814	-0.436000	0.07254	-1.329000	0.01275	CGC		0.512	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	56	0	0	0	1	0	4	56					T	144942068	C	T	144942068	3	4	379	1	0	0	0	0	1	0	0	0	5190	768	27	1	1912	1	EPPK1	8	144942068	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	11888296	144942068	1421954	18	34553											
DFNB31	25861	broad.mit.edu	37	chr9	117266884	117266884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagacgttgcggcgcgcGtggtaagcgttcaggcagtg	17	9	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:117266884G>A	ENST00000362057.3	-	1	366	c.198C>T	c.(196-198)caC>caT	p.H66H	DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000265134.6_5'Flank|DFNB31_ENST00000374057.3_Silent_p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	66					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCGGCGCGCGTGGTAAGCGT	0.677																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(196-198)caC>caT		deafness, autosomal recessive 31							44	36	39					9																	117266884		2202	4299	6501	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117266884G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.198C>T	9.37:g.117266884G>A						DFNB31_ENST00000374057.3_Silent_p.H66H	p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			1	366	-			66					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.198C>T	CCDS6806.1																																																																																				0.677	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		11	48	0	0	0	1	0	11	48					A	117266884	G	A	117266884	2	1	379	1	0	0	0	0	0	0	0	1	4455	1136	40	1		1	DFNB31	9	117266884	Silent	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		117266884	23946547	19	34554											
GAPVD1	26130	broad.mit.edu	37	chr9	128109218	128109218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatggcaaactatgaaagtaCaggtgataatcatgacagag	10	5	1	4			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:128109218C>G	ENST00000495955.1	+	20	3457	c.3167C>G	c.(3166-3168)aCa>aGa	p.T1056R	GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000470056.1_Missense_Mutation_p.T1029R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1056					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						TATGAAAGTACAGGTGATAAT	0.388																																						ENST00000470056.1																			0				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						c.(3085-3087)aCa>aGa		GTPase activating protein and VPS9 domains 1							89	78	82					9																	128109218		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128109218C>G		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.3167C>G	9.37:g.128109218C>G	ENSP00000419063:p.Thr1056Arg					GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000495955.1_Missense_Mutation_p.T1056R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R	p.T1029R			Q14C86	GAPD1_HUMAN			17	3246	+			1056					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.3086C>G		.	.	.	.	.	.	.	.	.	.	C	13.23	2.176613	0.38413	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.46	5.46	0.80206	.	0.470542	0.24686	N	0.036439	T	0.34716	0.0907	N	0.19112	0.55	0.27220	N	0.95968	B;B;B;B;B;B	0.19817	0.002;0.01;0.0;0.039;0.039;0.023	B;B;B;B;B;B	0.25291	0.002;0.026;0.002;0.059;0.059;0.026	T	0.11251	-1.0595	9	0.18276	T	0.48	.	15.831	0.78752	0.0:0.8643:0.1357:0.0	.	1056;89;1029;1035;1056;1083	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	R	1029;1083;1056;1030;1008;1056;1056;1035	.	ENSP00000265956:T1030R	T	+	2	0	GAPVD1	127149039	0.998000	0.40836	0.982000	0.44146	0.940000	0.58332	3.889000	0.56212	2.724000	0.93272	0.462000	0.41574	ACA		0.388	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			17	23	0	0	0	1	0	17	23					G	128109218	C	G	128109218	3	3	379	1	0	0	0	0	1	0	0	0	6239	478	17	4	3318	4	GAPVD1	9	128109218	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	10842334	128109218	13104213	20	34555											
KIAA0649	9858	broad.mit.edu	37	chr9	138377236	138377236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccttccgcaaacctcccCggttagcgaagatgaacgtc	9	14	0	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:138377236C>T	ENST00000356818.2	+	4	1429	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R294W	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	294					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAAACCTCCCCGGTTAGCGAA	0.617																																						ENST00000356818.2																			0											c.(880-882)Cgg>Tgg		protein phosphatase 1, regulatory subunit 26							63	69	67					9																	138377236		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377236C>T	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.880C>T	9.37:g.138377236C>T	ENSP00000349274:p.Arg294Trp					PPP1R26_ENST00000604351.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R294W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R294W	p.R294W	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1429	+			294					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.880C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528727	0.64860	.	.	ENSG00000196422	ENST00000356818	T	0.11930	2.73	5.61	-6.11	0.02131	.	0.696787	0.13550	N	0.379536	T	0.26810	0.0656	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.08027	-1.0742	10	0.87932	D	0	-25.6182	12.7604	0.57361	0.3157:0.6079:0.0764:0.0	.	294	Q5T8A7	PPR26_HUMAN	W	294	ENSP00000349274:R294W	ENSP00000349274:R294W	R	+	1	2	KIAA0649	137517057	0.032000	0.19561	0.003000	0.11579	0.002000	0.02628	0.095000	0.15127	-0.970000	0.03569	-0.274000	0.10170	CGG		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		26	124	0	0	0	1	0	26	124					T	138377236	C	T	138377236	3	4	379	1	0	0	0	0	1	0	0	0	8187	643	23	1	882	1	KIAA0649	9	138377236	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	10268018	138377236	2836195	21	34556											
NRP1	8829	broad.mit.edu	37	chr10	33481224	33481224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatacctgtgtgatcctgaaTgggtcccgtcttgctggtca	12	10	2	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:33481224T>C	ENST00000265371.4	-	14	2572	c.2047A>G	c.(2047-2049)Att>Gtt	p.I683V	NRP1_ENST00000374867.2_Missense_Mutation_p.I683V|NRP1_ENST00000395995.1_Missense_Mutation_p.I683V|NRP1_ENST00000374875.1_Missense_Mutation_p.I495V			O14786	NRP1_HUMAN	neuropilin 1	683	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)	TGATCCTGAATGGGTCCCGTC	0.507																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				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						c.(2047-2049)Att>Gtt		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						314	266	282					10																	33481224		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33481224T>C	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.2047A>G	10.37:g.33481224T>C	ENSP00000265371:p.Ile683Val					NRP1_ENST00000374867.2_Missense_Mutation_p.I683V|NRP1_ENST00000395995.1_Missense_Mutation_p.I683V	p.I683V			O14786	NRP1_HUMAN			14	2572	-			683			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2047A>G	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	T	9.246	1.039569	0.19669	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.095103	0.64402	D	0.000001	T	0.01627	0.0052	N	0.04880	-0.145	0.80722	D	1	B;B;B;B;B	0.12013	0.001;0.005;0.001;0.001;0.001	B;B;B;B;B	0.19946	0.007;0.027;0.007;0.007;0.002	T	0.61004	-0.7150	10	0.41790	T	0.15	-19.7154	10.5336	0.44992	0.0:0.0717:0.0:0.9283	.	676;683;683;495;683	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	V	683;495;683;683	ENSP00000265371:I683V;ENSP00000364009:I495V;ENSP00000364001:I683V;ENSP00000379317:I683V	ENSP00000265371:I683V	I	-	1	0	NRP1	33521230	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	4.679000	0.61649	2.236000	0.73375	0.533000	0.62120	ATT		0.507	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			115	202	0	0	0	1	0	115	202					C	33481224	T	C	33481224	3	2	379	1	0	0	0	0	1	0	0	0	10660	1464	51	3	744	3	NRP1	10	33481224	Missense_Mutation	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		33481224	102053523	22	34557											
PRF1	5551	broad.mit.edu	37	chr10	72357828	72357828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccacacggccccactcCggtttcctggaggctccccc	8	21	1	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:72357828C>T	ENST00000441259.1	-	3	1809	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1648-1650)cGg>cAg		perforin 1 (pore forming protein)							51	53	52					10																	72357828		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72357828C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1649G>A	10.37:g.72357828C>T	ENSP00000398568:p.Arg550Gln					PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1809	-			550					B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1649G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490879	0.84962	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.92249	-3.0;-3.0	5.97	5.06	0.68205	.	0.455646	0.23579	N	0.046677	D	0.94029	0.8087	M	0.80028	2.48	0.28793	N	0.899189	D	0.76494	0.999	P	0.51999	0.687	D	0.90736	0.4646	10	0.66056	D	0.02	-38.3939	13.2272	0.59921	0.0:0.8407:0.1593:0.0	.	550	P14222	PERF_HUMAN	Q	550	ENSP00000362305:R550Q;ENSP00000398568:R550Q	ENSP00000316746:R550Q	R	-	2	0	PRF1	72027834	0.996000	0.38824	0.996000	0.52242	0.688000	0.40055	1.814000	0.38972	1.510000	0.48803	-0.176000	0.13171	CGG		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		26	37	0	0	0	1	0	26	37					T	72357828	C	T	72357828	3	4	379	1	0	0	0	0	1	0	0	0	12478	652	23	1	22	1	PRF1	10	72357828	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	38876604	72357828	63176919	23	34558											
BTBD11	121551	broad.mit.edu	37	chr12	108004038	108004038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtttaagcaggaccTgggtttccggatgctgaact	12	9	0	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr12:108004038T>A	ENST00000280758.5	+	5	2243	c.1715T>A	c.(1714-1716)cTg>cAg	p.L572Q	BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	572						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						AAGCAGGACCTGGGTTTCCGG	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280758.5																			0				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						c.(1714-1716)cTg>cAg		BTB (POZ) domain containing 11							150	130	137					12																	108004038		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108004038T>A	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.1715T>A	12.37:g.108004038T>A	ENSP00000280758:p.Leu572Gln		OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA	p.L572Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			5	2243	+			572					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1715T>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868190	0.91587	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.66099	0.91;1.01;0.95;0.02;-0.19;0.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	L	0.48362	1.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.76892	-0.2791	10	0.87932	D	0	.	15.8565	0.78983	0.0:0.0:0.0:1.0	.	572;109;572;572	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	Q	572;572;572;203;206;109	ENSP00000280758:L572Q;ENSP00000413889:L572Q;ENSP00000447319:L572Q;ENSP00000447606:L203Q;ENSP00000407416:L206Q;ENSP00000349690:L109Q	ENSP00000280758:L572Q	L	+	2	0	BTBD11	106528168	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.994000	0.88315	2.147000	0.66899	0.379000	0.24179	CTG		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		4	167	0	0	0	1	0	4	167					A	108004038	T	A	108004038	3	1	379	1	0	0	0	0	1	0	0	0	1539	1580	55	5	1838	5	BTBD11	12	108004038	Missense_Mutation	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		108004038	25847857	24	34559											
FRY	10129	broad.mit.edu	37	chr13	32805370	32805371	+	Frame_Shift_Del	DEL	AA	AA	-													acacctaaaaatcaaaattcAaagagtgctgaacagctcac							TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr13:32805370_32805371delAA	ENST00000380250.3	+	41	5956_5957	c.5460_5461delAA	c.(5458-5463)tcaaagfs	p.K1821fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1821						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)		ATCAAAATTCAAAGAGTGCTGA	0.351																																						ENST00000380250.3																			0				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						c.(5458-5463)tcagfs		furry homolog (Drosophila)																																				SO:0001589	frameshift_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32805370_32805371delAA	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.5460_5461delAA	13.37:g.32805370_32805371delAA	ENSP00000369600:p.Lys1821fs						p.SK1820fs	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		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)	41	5956_5957	+		Lung SC(185;0.0271)	1820					Q9Y3N6	Frame_Shift_Del	DEL	ENST00000380250.3	37	c.5460_5461delAA	CCDS41875.1																																																																																				0.351	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		10	50						10	50	---	---	---	---	-	32805371	AA	-	32805370	7	5	379	1	0	1	0	1	0	0	0	0	6063	117	5	0	5622	0	FRY	13	32805370	Frame_Shift_Del	DEL	AA	TCGA-QH-A65R-01A-21D-A31L-08		32805370	82364508	25	34560											
BCL11B	64919	broad.mit.edu	37	chr14	99641314	99641314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcttcaggaaggcgccgCgcttctgcttgtcggccagg	14	14	2	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr14:99641314C>T	ENST00000357195.3	-	4	1868	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H	BCL11B_ENST00000345514.2_Missense_Mutation_p.R549H|BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	620	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAAGGCGCCGCGCTTCTGCTT	0.751			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1645-1647)cGc>cAc		B-cell CLL/lymphoma 11B (zinc finger protein)							11	10	11					14																	99641314		2026	3903	5929	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641314C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1859G>A	14.37:g.99641314C>T	ENSP00000349723:p.Arg620His					BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H|BCL11B_ENST00000357195.3_Missense_Mutation_p.R620H	p.R549H	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1912	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	620			Glu-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1646G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001532	0.74818	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.14144	2.53;2.59;2.56	3.6	3.6	0.41247	.	5.873130	0.00520	U	0.000180	T	0.24774	0.0601	L	0.29908	0.895	0.46654	D	0.999147	D;D	0.71674	0.974;0.998	B;P	0.53102	0.4;0.718	T	0.08472	-1.0720	10	0.48119	T	0.1	-3.0567	15.5731	0.76354	0.0:1.0:0.0:0.0	.	549;620	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	620;549;426	ENSP00000349723:R620H;ENSP00000280435:R549H;ENSP00000387419:R426H	ENSP00000280435:R549H	R	-	2	0	BCL11B	98711067	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.921000	0.63397	1.709000	0.51313	0.561000	0.74099	CGC		0.751	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	11	0	0	0	1	0	5	11					T	99641314	C	T	99641314	3	4	379	1	0	0	0	0	1	0	0	0	1364	768	27	1	829	1	BCL11B	14	99641314	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		99641314	7708226	26	34561											
CCNF	899	broad.mit.edu	37	chr16	2506782	2506782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcctccgtcagcaccGcaagtcccacaagctccgtg	9	17	1	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr16:2506782G>A	ENST00000397066.4	+	17	2210	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	708	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CGTCAGCACCGCAAGTCCCAC	0.662																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(2122-2124)Gca>Aca		cyclin F							93	75	81					16																	2506782		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506782G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2122G>A	16.37:g.2506782G>A	ENSP00000380256:p.Ala708Thr					RP11-715J22.4_ENST00000566085.1_lincRNA	p.A708T	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			17	2210	+		Ovarian(90;0.17)	708			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.2122G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	6.548	0.469309	0.12461	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.25912	1.77	5.43	-3.09	0.05331	.	0.870083	0.10232	N	0.699573	T	0.19167	0.0460	L	0.46157	1.445	0.09310	N	0.999992	B	0.14438	0.01	B	0.06405	0.002	T	0.18713	-1.0328	10	0.45353	T	0.12	-1.0668	6.9385	0.24481	0.4295:0.0:0.459:0.1115	.	708	P41002	CCNF_HUMAN	T	708;623	ENSP00000380256:A708T	ENSP00000293968:A623T	A	+	1	0	CCNF	2446783	0.000000	0.05858	0.003000	0.11579	0.112000	0.19704	-0.544000	0.06077	-1.270000	0.02433	-1.119000	0.02030	GCA		0.662	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		5	92	0	0	0	1	0	5	92					A	2506782	G	A	2506782	3	1	379	1	0	0	0	0	1	0	0	0	2922	1087	38	1	2188	1	CCNF	16	2506782	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		2506782	87847971	27	34562											
NEURL4	84461	broad.mit.edu	37	chr17	7232363	7232363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaccttgcggtcgatgCggacggtgaagacgcgtcca	15	12	0	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:7232363C>T	ENST00000399464.2	-	1	284	c.269G>A	c.(268-270)cGc>cAc	p.R90H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	90	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGTCGATGCGGACGGTGAA	0.667																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(268-270)cGc>cAc		neuralized E3 ubiquitin protein ligase 4							23	27	26					17																	7232363		2004	4168	6172	SO:0001583	missense	84461							g.chr17:7232363C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.269G>A	17.37:g.7232363C>T	ENSP00000382390:p.Arg90His					NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H	p.R90H	NM_032442.2	NP_115818.2					1	284	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.269G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216569	0.95104	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73897	-0.79;-0.79	4.58	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	M	0.84511	2.7	0.58432	D	0.99999	D;D	0.71674	0.998;0.998	D;D	0.78314	0.984;0.991	D	0.88530	0.3102	10	0.66056	D	0.02	-16.0376	14.7419	0.69461	0.0:1.0:0.0:0.0	.	90;90	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	90	ENSP00000319826:R90H;ENSP00000382390:R90H	ENSP00000319826:R90H	R	-	2	0	NEURL4	7173087	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.472000	0.73567	2.537000	0.85549	0.462000	0.41574	CGC		0.667	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		3	40	0	0	0	1	0	3	40					T	7232363	C	T	7232363	3	4	379	1	0	0	0	0	1	0	0	0	10347	768	27	1	4535	1	NEURL4	17	7232363	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		7232363	73962847	28	34563											
PFAS	5198	broad.mit.edu	37	chr17	8159859	8159859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcaatccagggaaaggAagtccgattcctacggcctg	12	11	0	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:8159859A>T	ENST00000314666.6	+	8	972	c.839A>T	c.(838-840)gAa>gTa	p.E280V	PFAS_ENST00000545834.1_De_novo_Start_OutOfFrame	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	280					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGGGAAAGGAAGTCCGATTC	0.582																																						ENST00000545834.1																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35								phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						81	70	73					17																	8159859		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159859A>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.839A>T	17.37:g.8159859A>T	ENSP00000313490:p.Glu280Val					PFAS_ENST00000314666.6_Missense_Mutation_p.E280V				O15067	PUR4_HUMAN			0	898	+								A6H8V8	Translation_Start_Site	SNP	ENST00000314666.6	37		CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387404	0.42308	.	.	ENSG00000178921	ENST00000314666	T	0.41065	1.01	5.01	5.01	0.66863	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.168753	0.51477	D	0.000099	T	0.40145	0.1105	L	0.58510	1.815	0.80722	D	1	B	0.14438	0.01	B	0.23716	0.048	T	0.21793	-1.0235	10	0.24483	T	0.36	-5.4398	12.7264	0.57173	1.0:0.0:0.0:0.0	.	280	O15067	PUR4_HUMAN	V	280	ENSP00000313490:E280V	ENSP00000313490:E280V	E	+	2	0	PFAS	8100584	1.000000	0.71417	0.897000	0.35233	0.815000	0.46073	5.157000	0.64911	2.110000	0.64415	0.460000	0.39030	GAA		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			5	99	0	0	0	1	0	5	99					T	8159859	A	T	8159859	3	4	379	1	0	0	0	0	1	0	0	0	11754	246	9	5	865	5	PFAS	17	8159859	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	927496	8159859	73035351	29	34564											
MYH8	4626	broad.mit.edu	37	chr17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctggagccgctgcttcGtcttctcaagggaagcacat	10	12	3	0	rs150344258		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:10300223G>A	ENST00000403437.2	-	31	4353	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					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						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(4258-4260)aCg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	98	91	93		4259	5.2	1	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	MYH8	NM_002472.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1420/1938	10300223	2,13004	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300223G>A		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.4259C>T	17.37:g.10300223G>A	ENSP00000384330:p.Thr1420Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.T1420M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4353	-			1420					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4259C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724780	0.68959	4.54E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.42964	U	0.000639	D	0.91043	0.7182	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.92903	0.6341	10	0.87932	D	0	.	18.8185	0.92086	0.0:0.0:1.0:0.0	.	1420	P13535	MYH8_HUMAN	M	1420	ENSP00000384330:T1420M	ENSP00000252173:T1420M	T	-	2	0	MYH8	10240948	1.000000	0.71417	0.956000	0.39512	0.373000	0.29922	9.466000	0.97665	2.673000	0.90976	0.650000	0.86243	ACG		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		9	67	0	0	0	1	0	9	67					A	10300223	G	A	10300223	3	1	379	1	0	0	0	0	1	0	0	0	10041	1145	40	1	1594	1	MYH8	17	10300223	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	2140364	10300223	70894987	30	34565											
MYO18A	399687	broad.mit.edu	37	chr17	27448160	27448160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagcatcgccctgtatgCggtctgggccactgcataga	11	13	2	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:27448160C>T	ENST00000527372.1	-	6	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	481	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)			GCCCTGTATGCGGTCTGGGCC	0.587																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(1441-1443)Gca>Aca		myosin XVIIIA							43	45	44					17																	27448160		2149	4243	6392	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448160C>T	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.1441G>A	17.37:g.27448160C>T	ENSP00000437073:p.Ala481Thr					MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T	p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		6	1621	-			481			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1441G>A	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.355373|5.355373	0.95854|0.95854	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428;ENST00000531686|ENST00000528564	D;D;D;D|.	0.83914|.	-1.78;-1.78;-1.78;-1.78|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Myosin head, motor domain (2);|.	0.048216|.	0.85682|.	D|.	0.000000|.	D|D	0.82893|0.82893	0.5136|0.5136	M|M	0.83118|0.83118	2.625|2.625	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	0.999;0.999;0.986;0.986;1.0|.	D;P;P;P;D|.	0.69654|.	0.965;0.898;0.636;0.636;0.945|.	T|T	0.82721|0.82721	-0.0317|-0.0317	10|5	0.72032|.	D|.	0.01|.	.|.	19.9311|19.9311	0.97118|0.97118	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150;93;481;481;481|.	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;.;MY18A_HUMAN|.	T|H	481;481;481;481;481;93;161|186	ENSP00000346291:A481T;ENSP00000435932:A481T;ENSP00000434228:A481T;ENSP00000437073:A481T|.	ENSP00000346291:A481T|.	A|R	-|-	1|2	0|0	MYO18A|MYO18A	24472286|24472286	1.000000|1.000000	0.71417|0.71417	0.481000|0.481000	0.27354|0.27354	0.723000|0.723000	0.41478|0.41478	7.466000|7.466000	0.80914|0.80914	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.587	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	15	0	0	0	1	0	3	15					T	27448160	C	T	27448160	3	4	379	1	0	0	0	0	1	0	0	0	10065	768	27	1	4871	1	MYO18A	17	27448160	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	17147937	27448160	53747050	31	34566											
KRT24	192666	broad.mit.edu	37	chr17	38859836	38859836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccctgggccgagctgCcccccagaccacatctgctt	11	17	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:38859836C>T	ENST00000264651.2	-	1	166	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	37	Gly-rich.|Head.					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)				GGCCGAGCTGCCCCCCAGACC	0.662																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				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						c.(109-111)gGc>gAc		keratin 24							41	45	44					17																	38859836		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859836C>T		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.110G>A	17.37:g.38859836C>T	ENSP00000264651:p.Gly37Asp						p.G37D	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	166	-		Breast(137;0.00526)	37			Gly-rich.|Head.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.110G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575158	0.28092	.	.	ENSG00000167916	ENST00000264651	D	0.83992	-1.79	5.05	3.02	0.34903	.	.	.	.	.	T	0.76219	0.3957	L	0.45581	1.43	0.32313	N	0.563516	P	0.41313	0.745	B	0.38562	0.276	T	0.76713	-0.2858	9	0.48119	T	0.1	.	8.9798	0.35957	0.0:0.7671:0.1492:0.0838	.	37	Q2M2I5	K1C24_HUMAN	D	37	ENSP00000264651:G37D	ENSP00000264651:G37D	G	-	2	0	KRT24	36113362	0.001000	0.12720	0.477000	0.27303	0.121000	0.20230	0.898000	0.28404	0.618000	0.30179	0.563000	0.77884	GGC		0.662	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		46	68	0	0	0	1	0	46	68					T	38859836	C	T	38859836	3	4	379	1	0	0	0	0	1	0	0	0	8461	739	26	2	1499	2	KRT24	17	38859836	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	11411676	38859836	42335374	32	34567											
STAT5A	6776	broad.mit.edu	37	chr17	40441527	40441527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcgaggtccggcactActtggcccagtggattgaga	12	13	0	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:40441527A>G	ENST00000345506.4	+	3	740	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					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)	p.Y33F(1)		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)		GTCCGGCACTACTTGGCCCAG	0.652																																						ENST00000345506.4																			1	Substitution - Missense(1)	p.Y33F(1)	lung(1)	central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(97-99)tAc>tGc		signal transducer and activator of transcription 5A							62	51	55					17																	40441527		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40441527A>G	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.98A>G	17.37:g.40441527A>G	ENSP00000341208:p.Tyr33Cys					STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C	p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	740	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	33					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.98A>G	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090077	0.55968	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307;ENST00000444283	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.43	3.13	0.36017	STAT transcription factor, protein interaction (4);	0.061020	0.64402	D	0.000002	T	0.66973	0.2844	M	0.72576	2.205	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.992;0.994	T	0.63646	-0.6590	10	0.48119	T	0.1	-0.0071	8.6493	0.34025	0.7369:0.1347:0.0:0.1284	.	33;35;33	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	C	33;33;35;33;33	ENSP00000341208:Y33C;ENSP00000443107:Y33C;ENSP00000400320:Y33C;ENSP00000407327:Y33C	ENSP00000341208:Y33C	Y	+	2	0	STAT5A	37695053	1.000000	0.71417	0.958000	0.39756	0.146000	0.21551	7.371000	0.79600	0.324000	0.23333	-0.333000	0.08304	TAC		0.652	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		11	87	0	0	0	1	0	11	87					G	40441527	A	G	40441527	3	3	379	1	0	0	0	0	1	0	0	0	15267	391	14	3	100	3	STAT5A	17	40441527	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	1581691	40441527	40753683	33	34568											
BPTF	2186	broad.mit.edu	37	chr17	65941667	65941667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagctcagccccagccCcaaacccagccccagtcccc	5	24	2	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:65941667C>T	ENST00000321892.4	+	23	7282	c.7221C>T	c.(7219-7221)ccC>ccT	p.P2407P	BPTF_ENST00000306378.6_Silent_p.P2281P|BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2407					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)			agccccagccccaaacccagc	0.557																																						ENST00000321892.4																			0				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						c.(7219-7221)ccC>ccT		bromodomain PHD finger transcription factor							51	49	50					17																	65941667		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65941667C>T	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.7221C>T	17.37:g.65941667C>T						BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P|BPTF_ENST00000306378.6_Silent_p.P2281P	p.P2407P			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7282	+	all_cancers(12;6e-11)		2407					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.7221C>T		.	.	.	.	.	.	.	.	.	.	C	2.828	-0.243337	0.05906	.	.	ENSG00000171634	ENST00000424123	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66889	-0.5809	5	0.56958	D	0.05	.	10.3719	0.44060	0.0:0.8553:0.0:0.1447	.	.	.	.	L	79	.	ENSP00000388405:P79L	P	+	2	0	BPTF	63372129	0.020000	0.18652	0.988000	0.46212	0.590000	0.36582	0.015000	0.13355	2.722000	0.93159	0.650000	0.86243	CCC		0.557	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		14	18	0	0	0	1	0	14	18					T	65941667	C	T	65941667	2	4	379	1	0	0	0	0	0	0	0	1	1495	610	22	2		2	BPTF	17	65941667	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	25500140	65941667	15253543	34	34569											
C17orf70	80233	broad.mit.edu	37	chr17	79514217	79514217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcttgctcgggcaggaCgtcggaggggcactcatcca	13	14	2	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:79514217C>T	ENST00000327787.8	-	5	1937	c.1891G>A	c.(1891-1893)Gtc>Atc	p.V631I	C17orf70_ENST00000537152.1_Missense_Mutation_p.V480I|C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	631					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)			TCGGGCAGGACGTCGGAGGGG	0.657																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1438-1440)Gtc>Atc		chromosome 17 open reading frame 70							46	53	51					17																	79514217		2203	4299	6502	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514217C>T	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.1891G>A	17.37:g.79514217C>T	ENSP00000333283:p.Val631Ile					C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I|C17orf70_ENST00000327787.8_Missense_Mutation_p.V631I	p.V480I	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1963	-	all_neural(118;0.0878)|Melanoma(429;0.242)		631					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1438G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	5.441	0.266525	0.10294	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.32272	1.46;1.46;1.46	4.91	-6.75	0.01738	.	1.571240	0.04512	N	0.383020	T	0.13841	0.0335	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.10450	0.003;0.005	T	0.21211	-1.0252	10	0.10636	T	0.68	.	2.7119	0.05177	0.1627:0.1114:0.4017:0.3242	.	631;280	Q0VG06;E7EVV8	FP100_HUMAN;.	I	631;280;480	ENSP00000333283:V631I;ENSP00000399674:V280I;ENSP00000440151:V480I	ENSP00000333283:V631I	V	-	1	0	C17orf70	77124670	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.082000	0.11304	-0.730000	0.04869	-0.314000	0.08810	GTC		0.657	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		36	68	0	0	0	1	0	36	68					T	79514217	C	T	79514217	3	4	379	1	0	0	0	0	1	0	0	0	1877	536	19	1	774	1	C17orf70	17	79514217	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	13572550	79514217	1680993	35	34570											
C18orf1	753	broad.mit.edu	37	chr18	13645616	13645616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagagcacaatagtacCcatcaaaggcaaagatagga	10	8	1	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr18:13645616C>T	ENST00000359446.5	+	6	1349	c.881C>T	c.(880-882)cCc>cTc	p.P294L	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P276L|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P294L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P239L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P257L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P217L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P196L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	294					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										ACAATAGTACCCATCAAAGGC	0.557																																						ENST00000361205.4																			0											c.(880-882)cCc>cTc		low density lipoprotein receptor class A domain containing 4							42	46	45					18																	13645616		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645616C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.881C>T	18.37:g.13645616C>T	ENSP00000352420:p.Pro294Leu					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P276L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P257L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P239L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P196L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P217L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P294L	p.P294L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1549	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.881C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957331	0.18507	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.26223	1.79;1.75	4.4	4.4	0.53042	.	0.056490	0.64402	D	0.000001	T	0.39963	0.1098	M	0.72479	2.2	0.80722	D	1	P;D;P;D;D;D	0.57571	0.908;0.98;0.946;0.98;0.957;0.966	B;P;P;P;P;P	0.57152	0.436;0.814;0.67;0.814;0.756;0.656	T	0.41627	-0.9498	10	0.02654	T	1	0.0089	16.9745	0.86309	0.0:1.0:0.0:0.0	.	218;236;239;257;276;294	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	L	294;276;257;239;236;218	ENSP00000354753:P294L;ENSP00000382741:P276L	ENSP00000352420:P257L	P	+	2	0	C18orf1	13635616	1.000000	0.71417	0.725000	0.30721	0.879000	0.50718	4.076000	0.57591	2.008000	0.58898	0.655000	0.94253	CCC		0.557	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		3	41	0	0	0	1	0	3	41					T	13645616	C	T	13645616	3	4	379	1	0	0	0	0	1	0	0	0	1894	623	22	2	980	2	C18orf1	18	13645616	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		13645616	64431632	36	34571											
ATP4A	495	broad.mit.edu	37	chr19	36046221	36046221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcacaccatcccccgtgaCggccacaatcgcaccctgca	6	19	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:36046221C>T	ENST00000262623.3	-	15	2201	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	725					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCCCCCGTGACGGCCACAATC	0.632																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2173-2175)Gtc>Atc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						53	48	49					19																	36046221		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046221C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2173G>A	19.37:g.36046221C>T	ENSP00000262623:p.Val725Ile						p.V725I	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2201	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		725					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2173G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651293	0.88056	.	.	ENSG00000105675	ENST00000262623	D	0.96232	-3.95	5.03	5.03	0.67393	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000005	D	0.98698	0.9563	H	0.97732	4.065	0.58432	D	0.999999	D	0.56968	0.978	D	0.63283	0.913	D	0.99457	1.0942	10	0.87932	D	0	.	15.9038	0.79403	0.0:1.0:0.0:0.0	.	725	P20648	ATP4A_HUMAN	I	725	ENSP00000262623:V725I	ENSP00000262623:V725I	V	-	1	0	ATP4A	40738061	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.651000	0.83577	2.619000	0.88677	0.462000	0.41574	GTC		0.632	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	35	0	0	0	1	0	4	35					T	36046221	C	T	36046221	3	4	379	1	0	0	0	0	1	0	0	0	1145	536	19	1	966	1	ATP4A	19	36046221	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		36046221	23082762	37	34572											
H2BFWT	158983	broad.mit.edu	37	chrX	103267977	103267977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcttcagcacccggcGgaaataggtggcgaagctgt	13	11	1	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(256-258)Cgc>Tgc		H2B histone family, member W, testis-specific							46	43	44					X																	103267977		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267977G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.256C>T	X.37:g.103267977G>A	ENSP00000354723:p.Arg86Cys						p.R86C	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	282	-			86					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.256C>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.752720	0.49362	.	.	ENSG00000123569	ENST00000217926	T	0.21734	1.99	2.84	-1.96	0.07525	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	0.999998	D	0.64830	0.994	P	0.48227	0.571	T	0.23868	-1.0176	9	0.48119	T	0.1	.	8.8879	0.35414	0.7854:0.0:0.2146:0.0	.	86	Q7Z2G1	H2BWT_HUMAN	C	86	ENSP00000354723:R86C	ENSP00000354723:R86C	R	-	1	0	H2BFWT	103154633	1.000000	0.71417	0.000000	0.03702	0.113000	0.19764	3.352000	0.52239	-0.647000	0.05444	0.600000	0.82982	CGC		0.622	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		16	76	0	0	0	1	0	16	76					A	103267977	G	A	103267977	3	1	379	1	0	0	0	0	1	0	0	0	6932	1116	39	1	279	1	H2BFWT	23	103267977	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		103267977	52002583	38	34573											
UPF3B	65109	broad.mit.edu	37	chrX	118979241	118979241	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggtgcaaattctactAtagcgggatattcctgacct	9	8	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:118979241A>T	ENST00000276201.2	-	4	458	c.389T>A	c.(388-390)aTa>aAa	p.I130K	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	130	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						AAATTCTACTATAGCGGGATA	0.348																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(388-390)aTa>aAa		UPF3 regulator of nonsense transcripts homolog B (yeast)							102	93	96					X																	118979241		2202	4300	6502	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979241A>T	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.389T>A	X.37:g.118979241A>T	ENSP00000276201:p.Ile130Lys					UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			4	458	-			130			Necessary for interaction with UPF2.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.389T>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307680	0.60305	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.65732	-0.17;-0.17	4.99	4.99	0.66335	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.095927	0.64402	D	0.000001	T	0.80210	0.4581	M	0.86502	2.82	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.958	D	0.83892	0.0285	10	0.87932	D	0	.	12.9022	0.58130	1.0:0.0:0.0:0.0	.	130;130	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	130	ENSP00000276201:I130K;ENSP00000245418:I130K	ENSP00000276201:I130K	I	-	2	0	UPF3B	118863269	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.870000	0.92336	1.637000	0.50538	0.412000	0.27726	ATA		0.348	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			13	57	0	0	0	1	0	13	57					T	118979241	A	T	118979241	3	4	379	1	0	0	0	0	1	0	0	0	17003	449	16	5	1094	5	UPF3B	23	118979241	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	15711264	118979241	36291319	39	34574											
CUL4B	8450	broad.mit.edu	37	chrX	119677596	119677599	+	Frame_Shift_Del	DEL	TAAG	TAAG	-													acttactgggtggtctgatcTaagtaagtaataagtctgtc							TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:119677596_119677599delTAAG	ENST00000404115.3	-	10	1694_1697	c.1293_1296delCTTA	c.(1291-1296)tacttafs	p.YL431fs	CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs|CUL4B_ENST00000371322.5_Frame_Shift_Del_p.YL413fs|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCTGATCTAAGTAAGTAATAA	0.343																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1237-1242)tafs		cullin 4B																																				SO:0001589	frameshift_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119677596_119677599delTAAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1293_1296delCTTA	X.37:g.119677600_119677603delTAAG	ENSP00000384109:p.Tyr431fs					CUL4B_ENST00000404115.3_Frame_Shift_Del_p.YL431fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs	p.YL413fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			8	1300_1303	-			431					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Frame_Shift_Del	DEL	ENST00000404115.3	37	c.1239_1242delCTTA	CCDS35379.1																																																																																				0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		15	62						15	62	---	---	---	---	-	119677599	TAAG	-	119677596	7	5	379	1	0	1	0	1	0	0	0	0	4058	1519	53	0	1497	0	CUL4B	23	119677596	Frame_Shift_Del	DEL	TAAG	TCGA-QH-A65R-01A-21D-A31L-08	698355	119677596	35592964	40	34575											
ODZ1	10178	broad.mit.edu	37	chrX	123517993	123517993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggacttactcgcgacaCgtcgcccaagcccatcatag	10	15	1	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:123517993C>T	ENST00000371130.3	-	29	6830	c.6767G>A	c.(6766-6768)cGt>cAt	p.R2256H	TENM1_ENST00000422452.2_Missense_Mutation_p.R2263H|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2256					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)										ACTCGCGACACGTCGCCCAAG	0.453																																						ENST00000422452.2																			0											c.(6787-6789)cGt>cAt		teneurin transmembrane protein 1							95	91	92					X																	123517993		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123517993C>T	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.6767G>A	X.37:g.123517993C>T	ENSP00000360171:p.Arg2256His					TENM1_ENST00000371130.3_Missense_Mutation_p.R2256H|STAG2_ENST00000469481.1_Intron	p.R2263H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6851	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6788G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277101	0.80580	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.88509	-2.39;-2.35	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.987;0.987	D	0.96247	0.9180	10	0.72032	D	0.01	.	18.6846	0.91559	0.0:1.0:0.0:0.0	.	2262;2263;2256	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	2256;2263	ENSP00000360171:R2256H;ENSP00000403954:R2263H	ENSP00000360171:R2256H	R	-	2	0	ODZ1	123345674	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.818000	0.86416	2.356000	0.79943	0.600000	0.82982	CGT		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		29	145	0	0	0	1	0	29	145					T	123517993	C	T	123517993	3	4	379	1	0	0	0	0	1	0	0	0	10834	536	19	1	1422	1	ODZ1	23	123517993	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	3840397	123517993	31752567	41	34576											
ZIC3	7547	broad.mit.edu	37	chrX	136651129	136651129	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcagcgaccgtaagAagcacatgcatgtgcatacc	9	13	0	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:136651129A>T	ENST00000287538.5	+	2	1679	c.1129A>T	c.(1129-1131)Aag>Tag	p.K377*	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	377					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)					CGACCGTAAGAAGCACATGCA	0.493																																						ENST00000287538.5																			0				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						c.(1129-1131)Aag>Tag		Zic family member 3							211	182	192					X																	136651129		2203	4300	6503	SO:0001587	stop_gained	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136651129A>T	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.1129A>T	X.37:g.136651129A>T	ENSP00000287538:p.Lys377*					ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*|ZIC3_ENST00000478471.1_3'UTR	p.K377*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			2	1679	+	Acute lymphoblastic leukemia(192;0.000127)		377					B2CNW4|Q14DE5|Q5JY75	Nonsense_Mutation	SNP	ENST00000287538.5	37	c.1129A>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	A	44	11.182988	0.99528	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0775	0.64900	1.0:0.0:0.0:0.0	.	.	.	.	X	377	.	ENSP00000287538:K377X	K	+	1	0	ZIC3	136478795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.271000	0.95698	1.922000	0.55676	0.486000	0.48141	AAG		0.493	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			10	337	0	0	0	1	0	10	337					T	136651129	A	T	136651129	4	4	379	1	0	0	0	0	0	1	0	0	17677	247	9	5	1135	5	ZIC3	23	136651129	Nonsense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	13133136	136651129	18619431	42	34577											
TMEM17	200728	broad.mit.edu	37	chr2	62729687	62729687	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggtaagattgaatacTaaaagaaaagccaaaacatg	8	5	1	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:62729687T>C	ENST00000335390.5	-	3	416		c.e3-2			NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17						cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GATTGAATACTAAAAGAAAAG	0.308																																						ENST00000335390.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.e3-2		transmembrane protein 17							71	71	71					2																	62729687		2203	4300	6503	SO:0001630	splice_region_variant	200728					integral to membrane		g.chr2:62729687T>C		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.205-2A>G	2.37:g.62729687T>C								NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		3	416	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)							Q53QP7|Q53R98	Splice_Site	SNP	ENST00000335390.5	37		CCDS1871.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945783	0.53079	.	.	ENSG00000186889	ENST00000335390	.	.	.	6.07	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.354	0.49605	0.1352:0.0:0.0:0.8647	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM17	62583191	1.000000	0.71417	0.924000	0.36721	0.788000	0.44548	7.253000	0.78320	1.076000	0.40961	0.533000	0.62120	.		0.308	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276	Intron	5	18	0	0	0	1	0	5	18					C	62729687	T	C	62729687	5	2	380	1	0	0	0	0	0	0	1	0	16082	1536	53	3	401	3	TMEM17	2	62729687	Splice_Site	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		62729687	180469686	1	34578											
RPIA	22934	broad.mit.edu	37	chr2	89037526	89037526	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagataatgggaattttatCttggactggaagtttgaccg	11	5	1	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:89037526C>T	ENST00000283646.4	+	8	826	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	257					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GGAATTTTATCTTGGACTGGA	0.433																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(769-771)atC>atT		ribose 5-phosphate isomerase A							143	134	137					2																	89037526		1900	4118	6018	SO:0001819	synonymous_variant	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89037526C>T	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.771C>T	2.37:g.89037526C>T							p.I257I	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			8	826	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	257					Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	c.771C>T	CCDS2004.2																																																																																				0.433	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			19	39	0	0	0	1	0	19	39					T	89037526	C	T	89037526	2	4	380	1	0	0	0	0	0	0	0	1	13553	903	32	2		2	RPIA	2	89037526	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	26307839	89037526	154161847	2	34579											
NEB	4703	broad.mit.edu	37	chr2	152502668	152502668	+	Frame_Shift_Del	DEL	T	T	-													cttgtgttgattaagtttgcTttagccagaacaatgtcagg							TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:152502668delT	ENST00000172853.10	-	55	7659	c.7512delA	c.(7510-7512)aaafs	p.K2504fs	NEB_ENST00000427231.2_Frame_Shift_Del_p.K2504fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K2504fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K2504fs			P20929	NEBU_HUMAN	nebulin	2504					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)		TTAAGTTTGCTTTAGCCAGAA	0.328																																						ENST00000427231.2																			0				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						c.(7510-7512)aafs		nebulin							93	86	88					2																	152502668		1863	4125	5988	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152502668delT	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.7512delA	2.37:g.152502668delT	ENSP00000172853:p.Lys2504fs					NEB_ENST00000604864.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K2504fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K2504fs	p.K2504fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	55	7714	-			2504					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.7512delA																																																																																					0.328	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		2	4						2	4	---	---	---	---	-	152502668	T	-	152502668	7	5	380	1	0	1	0	1	0	0	0	0	10302	1606	56	0	18686	0	NEB	2	152502668	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	63465142	152502668	90696705	3	34580											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			13	19	0	0	0	1	0	13	19					T	209113112	C	T	209113112	3	4	380	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	56610444	209113112	34086261	4	34581											
ALPP	250	broad.mit.edu	37	chr2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCgccaggtgatgggggctggc	20	8	0	1	rs201259070		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378). {ECO:0000269|PubMed:3461452}.		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667																																						ENST00000392027.2																			1	Substitution - Missense(1)	p.R263C(1)	kidney(1)	NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(787-789)Cgc>Tgc		alkaline phosphatase, placental							73	75	74					2																	233245025		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245025C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.787C>T	2.37:g.233245025C>T	ENSP00000375881:p.Arg263Cys					AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.R263C	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	1056	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	263		R -> H (in dbSNP:rs2853378).			P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.787C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	9.825	1.186738	0.21870	.	.	ENSG00000163283	ENST00000392027	D	0.96802	-4.13	2.31	0.0197	0.14122	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.003840	0.08014	N	0.990937	D	0.96065	0.8718	M	0.79258	2.445	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	D	0.88532	0.3103	10	0.51188	T	0.08	.	3.4481	0.07487	0.3001:0.4479:0.0:0.252	.	263	P05187	PPB1_HUMAN	C	263	ENSP00000375881:R263C	ENSP00000375881:R263C	R	+	1	0	ALPP	232953269	0.000000	0.05858	0.953000	0.39169	0.172000	0.22775	-0.022000	0.12480	0.295000	0.22570	0.298000	0.19748	CGC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		17	173	0	0	0	1	0	17	173					T	233245025	C	T	233245025	3	4	380	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	24131913	233245025	9954348	5	34582											
ALPPL2	251	broad.mit.edu	37	chr2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCaccaggtgatgggggctggt	19	7	0	1	rs577584936		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233273106C>T	ENST00000295453.3	+	6	830	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	260				H -> R (in Ref. 8; AAH14139). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCTGGCGAAGCACCAGGTGAT	0.662													c|||	1	0.000199681	0.0	0.0	5008	,	,		8954	0.0		0.001	False		,,,				2504	0.0					ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(778-780)Cac>Tac		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						58	58	58					2																	233273106		2203	4295	6498	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273106C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.778C>T	2.37:g.233273106C>T	ENSP00000295453:p.His260Tyr						p.H260Y	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	830	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	260	H -> R (in Ref. 8; AAH14139).				A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.778C>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.328561	0.01309	.	.	ENSG00000163286	ENST00000295453	D	0.96716	-4.1	3.37	-2.4	0.06583	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.898809	0.09832	N	0.750052	D	0.88062	0.6336	N	0.13352	0.335	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.77683	-0.2496	10	0.20519	T	0.43	.	3.8883	0.09108	0.4008:0.3656:0.0:0.2336	.	260	P10696	PPBN_HUMAN	Y	260	ENSP00000295453:H260Y	ENSP00000295453:H260Y	H	+	1	0	ALPPL2	232981350	0.000000	0.05858	0.476000	0.27291	0.019000	0.09904	-0.613000	0.05610	-0.118000	0.11851	0.411000	0.27672	CAC		0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		4	11	0	0	0	1	0	4	11					T	233273106	C	T	233273106	3	4	380	1	0	0	0	0	1	0	0	0	549	710	25	2	800	2	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	28081	233273106	9926267	6	34583											
SETMAR	6419	broad.mit.edu	37	chr3	4355172	4355172	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagttggcactttttgcagcCaaagatattgtgccagaaga	10	7	0	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355172C>G	ENST00000358065.4	+	2	814	c.747C>G	c.(745-747)gcC>gcG	p.A249A	SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Silent_p.A249A|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	249	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		TTTTTGCAGCCAAAGATATTG	0.373								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(745-747)gcC>gcG	Chromatin Structure	SET domain and mariner transposase fusion gene							71	72	72					3																	4355172		2203	4300	6503	SO:0001819	synonymous_variant	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355172C>G	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.747C>G	3.37:g.4355172C>G						SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Silent_p.A249A	p.A249A	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	814	+		Melanoma(143;0.0657)	236			Histone-lysine N-methyltransferase.|SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Silent	SNP	ENST00000358065.4	37	c.747C>G	CCDS2563.2																																																																																				0.373	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		7	31	0	0	0	1	0	7	31					G	4355172	C	G	4355172	2	3	380	1	0	0	0	0	0	0	0	1	14140	581	21	4		4	SETMAR	3	4355172	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		4355172	193667258	7	34584											
SETMAR	6419	broad.mit.edu	37	chr3	4355408	4355409	+	Frame_Shift_Ins	INS	-	-	T													agcatgtgtggctcagccccINSttctgtgttcccctcctgca							TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355408_4355409insT	ENST00000358065.4	+	2	1050_1051	c.983_984insT	c.(982-987)ccttctfs	p.S329fs	SETMAR_ENST00000425863.1_Frame_Shift_Ins_p.S190fs|SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.S329fs|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	329	Histone-lysine N-methyltransferase.				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)		GGCTCAGCCCCTTCTGTGTTCC	0.515								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(982-984)ctcfs	Chromatin Structure	SET domain and mariner transposase fusion gene																																				SO:0001589	frameshift_variant	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355408_4355409insT	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.985dupT	3.37:g.4355410_4355410dupT	ENSP00000373354:p.Ser329fs					SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.L328fs|SETMAR_ENST00000425863.1_Frame_Shift_Ins_p.L189fs|SUMF1_ENST00000534863.1_Intron	p.L328fs	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	1050_1051	+		Melanoma(143;0.0657)	315			Histone-lysine N-methyltransferase.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Frame_Shift_Ins	INS	ENST00000358065.4	37	c.983_984insT	CCDS2563.2																																																																																				0.515	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		8	26						8	26	---	---	---	---	T	4355409	-	T	4355408	7	5	380	1	0	1	1	0	0	0	0	0	14140	681	24	0	989	0	SETMAR	3	4355408	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08	236	4355408	193667022	8	34585											
FLNB	2317	broad.mit.edu	37	chr3	58120353	58120353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctatcaagtcccttcaagGtcaaggtccttcccacatat	6	13	4	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:58120353G>A	ENST00000295956.4	+	27	4690	c.4525G>A	c.(4525-4527)Gtc>Atc	p.V1509I	FLNB_ENST00000429972.2_Missense_Mutation_p.V1509I|FLNB_ENST00000348383.5_Missense_Mutation_p.V1509I|FLNB_ENST00000358537.3_Missense_Mutation_p.V1509I|FLNB_ENST00000490882.1_Missense_Mutation_p.V1540I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1340I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1340I|FLNB_ENST00000357272.4_Missense_Mutation_p.V1509I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1509	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)		TCCCTTCAAGGTCAAGGTCCT	0.488																																						ENST00000357272.4																			0				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						c.(4525-4527)Gtc>Atc		filamin B, beta							193	182	186					3																	58120353		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58120353G>A	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.4525G>A	3.37:g.58120353G>A	ENSP00000295956:p.Val1509Ile					FLNB_ENST00000490882.1_Missense_Mutation_p.V1540I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1340I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1340I|FLNB_ENST00000295956.4_Missense_Mutation_p.V1509I|FLNB_ENST00000358537.3_Missense_Mutation_p.V1509I|FLNB_ENST00000348383.5_Missense_Mutation_p.V1509I|FLNB_ENST00000429972.2_Missense_Mutation_p.V1509I	p.V1509I			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	27	4690	+			1509			Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4525G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121538	0.37436	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;D;T;T;T;D;T	0.92647	-0.8;-0.8;-3.08;-0.8;-0.8;-0.8;-3.08;-0.8	5.81	4.93	0.64822	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.231260	0.44483	D	0.000447	D	0.88448	0.6439	L	0.41710	1.295	0.51767	D	0.999934	B;B;B;B;B;B	0.22003	0.004;0.063;0.0;0.001;0.002;0.002	B;B;B;B;B;B	0.29942	0.012;0.109;0.001;0.014;0.005;0.005	T	0.83231	-0.0063	10	0.21014	T	0.42	.	14.3104	0.66413	0.0707:0.0:0.9293:0.0	.	1509;1540;1340;1340;1509;1509	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	I	1509;1540;1509;1509;1509;1509;1340;1340	ENSP00000295956:V1509I;ENSP00000420213:V1540I;ENSP00000351339:V1509I;ENSP00000415599:V1509I;ENSP00000232447:V1509I;ENSP00000349819:V1509I;ENSP00000418510:V1340I;ENSP00000414532:V1340I	ENSP00000295956:V1509I	V	+	1	0	FLNB	58095393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.509000	0.45459	2.738000	0.93877	0.655000	0.94253	GTC		0.488	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		15	119	0	0	0	1	0	15	119					A	58120353	G	A	58120353	3	1	380	1	0	0	0	0	1	0	0	0	5934	1261	44	2	4728	2	FLNB	3	58120353	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08	53764945	58120353	139902077	9	34586											
FGF5	2250	broad.mit.edu	37	chr4	81207567	81207567	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaatacatagaactgaaaAaacagggcgggagtggtatg	13	5	0	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr4:81207567A>T	ENST00000312465.7	+	3	774	c.548A>T	c.(547-549)aAa>aTa	p.K183I	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	183					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAACTGAAAAAACAGGGCGG	0.468																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(547-549)aAa>aTa		fibroblast growth factor 5							95	108	104					4																	81207567		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207567A>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.548A>T	4.37:g.81207567A>T	ENSP00000311697:p.Lys183Ile					FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	p.K183I	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	774	+			183					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.548A>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575072	0.28092	.	.	ENSG00000138675	ENST00000312465	T	0.67865	-0.29	5.82	0.437	0.16555	.	0.749481	0.13420	N	0.389234	T	0.64616	0.2614	L	0.42245	1.32	0.09310	N	1	B	0.31599	0.33	P	0.46419	0.516	T	0.60767	-0.7198	10	0.52906	T	0.07	.	5.5107	0.16878	0.5303:0.2472:0.2226:0.0	.	183	P12034	FGF5_HUMAN	I	183	ENSP00000311697:K183I	ENSP00000311697:K183I	K	+	2	0	FGF5	81426591	0.402000	0.25311	0.000000	0.03702	0.038000	0.13279	1.646000	0.37249	-0.118000	0.11851	-0.323000	0.08544	AAA		0.468	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			28	65	0	0	0	1	0	28	65					T	81207567	A	T	81207567	3	4	380	1	0	0	0	0	1	0	0	0	5855	14	1	5	558	5	FGF5	4	81207567	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08		81207567	109946709	10	34587											
VCAN	1462	broad.mit.edu	37	chr5	82833311	82833311	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaacatttttcaggtggtGagcctgatgttttccccaca	9	10	1	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr5:82833311G>C	ENST00000265077.3	+	8	5054	c.4489G>C	c.(4489-4491)Gag>Cag	p.E1497Q	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E510Q|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1497	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)	TTCAGGTGGTGAGCCTGATGT	0.438																																						ENST00000265077.3																			0				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						c.(4489-4491)Gag>Cag		versican							77	74	75					5																	82833311		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833311G>C	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.4489G>C	5.37:g.82833311G>C	ENSP00000265077:p.Glu1497Gln					VCAN_ENST00000343200.5_Missense_Mutation_p.E510Q|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	p.E1497Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5054	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1497			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4489G>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390630	0.82902	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.93906	-3.31;-3.25;1.77	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000004	D	0.96156	0.8747	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.95885	0.8902	10	0.66056	D	0.02	.	13.5937	0.61975	0.0704:0.0:0.9296:0.0	.	510;1497	P13611-2;P13611	.;CSPG2_HUMAN	Q	1497;510;510	ENSP00000265077:E1497Q;ENSP00000340062:E510Q;ENSP00000426251:E510Q	ENSP00000265077:E1497Q	E	+	1	0	VCAN	82869067	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.877000	0.63086	2.832000	0.97577	0.655000	0.94253	GAG		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		12	26	0	0	0	1	0	12	26					C	82833311	G	C	82833311	3	2	380	1	0	0	0	0	1	0	0	0	17135	1291	45	4	4515	4	VCAN	5	82833311	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		82833311	98081949	11	34588											
C6orf15	29113	broad.mit.edu	37	chr6	31079466	31079466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgttccccaaccagtccCagggcctccacctccccagg	7	22	0	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr6:31079466C>T	ENST00000259870.3	-	2	673	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	224	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAACCAGTCCCAGGGCCTCCA	0.587																																						ENST00000259870.3																			0				endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						c.(670-672)Ggg>Agg		chromosome 6 open reading frame 15							36	36	36					6																	31079466		1713	3311	5024	SO:0001583	missense	29113							g.chr6:31079466C>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.670G>A	6.37:g.31079466C>T	ENSP00000259870:p.Gly224Arg						p.G224R	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN			2	673	-			224			Gly-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.670G>A	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985914	0.74589	.	.	ENSG00000204542	ENST00000259870	T	0.19669	2.13	4.4	4.4	0.53042	.	0.000000	0.48767	D	0.000175	T	0.36580	0.0972	M	0.69823	2.125	0.37145	D	0.901895	D	0.89917	1.0	D	0.97110	1.0	T	0.32079	-0.9920	10	0.87932	D	0	-9.8524	14.4911	0.67651	0.0:1.0:0.0:0.0	.	224	Q6UXA7	CF015_HUMAN	R	224	ENSP00000259870:G224R	ENSP00000259870:G224R	G	-	1	0	C6orf15	31187445	0.755000	0.28372	0.998000	0.56505	0.914000	0.54420	3.254000	0.51477	2.266000	0.75297	0.643000	0.83706	GGG		0.587	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		14	39	0	0	0	1	0	14	39					T	31079466	C	T	31079466	3	4	380	1	0	0	0	0	1	0	0	0	2336	594	21	2	311	2	C6orf15	6	31079466	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		31079466	140035601	12	34589											
OPN4	94233	broad.mit.edu	37	chr10	88418275	88418275	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgtggagctctcttTggcatttcctccatgatcac	8	13	3	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr10:88418275T>C	ENST00000241891.5	+	4	626	c.459T>C	c.(457-459)ttT>ttC	p.F153F	OPN4_ENST00000372071.2_Silent_p.F164F	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	153					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCTCTTTGGCATTTCCT	0.617																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(490-492)ttT>ttC		opsin 4							103	86	92					10																	88418275		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418275T>C	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.459T>C	10.37:g.88418275T>C						OPN4_ENST00000241891.5_Silent_p.F153F	p.F164F	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			5	719	+			153					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.492T>C	CCDS7376.1																																																																																				0.617	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		16	42	0	0	0	1	0	16	42					C	88418275	T	C	88418275	2	2	380	1	0	0	0	0	0	0	0	1	10882	1809	63	3		3	OPN4	10	88418275	Silent	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		88418275	47116472	13	34590											
OR52A5	390054	broad.mit.edu	37	chr11	5153482	5153482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggtggcatgtctcaaggGgatacagatggccacatagc	14	8	1	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:5153482G>T	ENST00000307388.1	-	1	390	c.391C>A	c.(391-393)Ccc>Acc	p.P131T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	131					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(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTCTCAAGGGGATACAGATG	0.473																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(391-393)Ccc>Acc		olfactory receptor, family 52, subfamily A, member 5							73	63	66					11																	5153482		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153482G>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.391C>A	11.37:g.5153482G>T	ENSP00000303469:p.Pro131Thr						p.P131T	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	390	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	131						Missense_Mutation	SNP	ENST00000307388.1	37	c.391C>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593204	0.46214	.	.	ENSG00000171944	ENST00000307388	T	0.01887	4.58	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.25606	0.0623	H	0.99545	4.62	0.48341	D	0.999631	D	0.89917	1.0	D	0.97110	1.0	T	0.51371	-0.8714	10	0.87932	D	0	.	12.5783	0.56375	0.0802:0.0:0.9198:0.0	.	131	Q9H2C5	O52A5_HUMAN	T	131	ENSP00000303469:P131T	ENSP00000303469:P131T	P	-	1	0	OR52A5	5110058	1.000000	0.71417	0.526000	0.27913	0.048000	0.14542	7.292000	0.78731	1.433000	0.47394	0.655000	0.94253	CCC		0.473	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		12	14	1	0	1.08611e-07	1	1.12114e-07	12	14					T	5153482	G	T	5153482	3	4	380	1	0	0	0	0	1	0	0	0	11110	1232	43	4	562	4	OR52A5	11	5153482	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		5153482	129853034	14	34591											
ANO1	55107	broad.mit.edu	37	chr11	69934117	69934117	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggactaccacgaggatgAcaagcgcttccgcagggagg	15	10	0	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:69934117A>G	ENST00000355303.5	+	2	673	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ANO1_ENST00000538023.1_Missense_Mutation_p.D123G|ANO1_ENST00000530676.1_Missense_Mutation_p.D7G|ANO1_ENST00000398543.2_Missense_Mutation_p.D7G|ANO1_ENST00000316296.5_Missense_Mutation_p.D95G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	123					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CACGAGGATGACAAGCGCTTC	0.672																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(367-369)gAc>gGc		anoctamin 1, calcium activated chloride channel							13	17	16					11																	69934117		1975	4145	6120	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69934117A>G	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.368A>G	11.37:g.69934117A>G	ENSP00000347454:p.Asp123Gly					ANO1_ENST00000398543.2_Missense_Mutation_p.D7G|ANO1_ENST00000530676.1_Missense_Mutation_p.D7G|ANO1_ENST00000316296.5_Missense_Mutation_p.D95G|ANO1_ENST00000538023.1_Missense_Mutation_p.D123G	p.D123G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			2	673	+			123					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.368A>G	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932601	0.73442	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.70869	-0.22;-0.22;-0.52;1.52;-0.22;-0.52	4.21	4.21	0.49690	.	0.212263	0.39615	N	0.001320	T	0.79879	0.4522	M	0.72118	2.19	0.47778	D	0.999517	D;P	0.62365	0.991;0.945	P;P	0.61800	0.894;0.468	T	0.80578	-0.1320	9	.	.	.	.	12.4818	0.55847	1.0:0.0:0.0:0.0	.	95;123	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	G	123;123;7;123;95;7	ENSP00000347454:D123G;ENSP00000444689:D123G;ENSP00000381551:D7G;ENSP00000436392:D123G;ENSP00000319477:D95G;ENSP00000435797:D7G	.	D	+	2	0	ANO1	69611765	1.000000	0.71417	0.991000	0.47740	0.628000	0.37860	5.387000	0.66243	1.520000	0.48965	0.459000	0.35465	GAC		0.672	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		4	16	0	0	0	1	0	4	16					G	69934117	A	G	69934117	3	3	380	1	0	0	0	0	1	0	0	0	695	275	10	3	374	3	ANO1	11	69934117	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	64780635	69934117	65072399	15	34592											
TPTE2	93492	broad.mit.edu	37	chr13	20025343	20025343	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagtggtttcgatgtttcTtatctagaaaccgcacaact	8	8	2	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr13:20025343T>C	ENST00000400230.2	-	11	808	c.764A>G	c.(763-765)aAg>aGg	p.K255R	TPTE2_ENST00000382978.1_Missense_Mutation_p.K215R|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255R|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144R|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144R|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215R|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178R|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGATGTTTCTTATCTAGAAA	0.363																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(763-765)aAg>aGg		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							124	110	115					13																	20025343		2203	4299	6502	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20025343T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.764A>G	13.37:g.20025343T>C	ENSP00000383089:p.Lys255Arg					TPTE2_ENST00000255310.6_Missense_Mutation_p.K178R|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215R|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144R|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255R|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144R|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178R|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215R	p.K255R			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	11	808	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	255			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.764A>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	5.911	0.352075	0.11182	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	2.63	1.74	0.24563	Phosphatase tensin type (1);	0.344519	0.30293	N	0.009953	T	0.13756	0.0333	N	0.12569	0.235	0.21675	N	0.999593	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.12156	0.007;0.004;0.007	T	0.23226	-1.0194	9	.	.	.	-4.094	6.5787	0.22581	0.0:0.0:0.7054:0.2946	.	144;178;255	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	R	215;144;255;178;178;255;215;144;255;124	ENSP00000372438:K215R;ENSP00000382974:K144R;ENSP00000383089:K255R;ENSP00000255310:K178R;ENSP00000375098:K178R;ENSP00000372437:K255R;ENSP00000372435:K215R;ENSP00000442218:K144R	.	K	-	2	0	TPTE2	18923343	0.873000	0.30073	0.358000	0.25811	0.184000	0.23303	3.249000	0.51437	0.646000	0.30693	0.163000	0.16589	AAG		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		8	25	0	0	0	1	0	8	25					C	20025343	T	C	20025343	3	2	380	1	0	0	0	0	1	0	0	0	16428	1609	56	3	844	3	TPTE2	13	20025343	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		20025343	95144535	16	34593											
HSD3B7	80270	broad.mit.edu	37	chr16	30998231	30998231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacggtgaaggccaccagaTcatgagggacttctaccgcc	11	13	2	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:30998231T>G	ENST00000297679.5	+	6	695	c.602T>G	c.(601-603)aTc>aGc	p.I201S	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	201					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						GGCCACCAGATCATGAGGGAC	0.662																																						ENST00000297679.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(601-603)aTc>aGc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							58	57	58					16																	30998231		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30998231T>G	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.602T>G	16.37:g.30998231T>G	ENSP00000297679:p.Ile201Ser					HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron	p.I201S	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			6	695	+			201					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.602T>G	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358920	0.82353	.	.	ENSG00000099377	ENST00000297679	T	0.63255	-0.03	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.233174	0.44902	D	0.000412	T	0.50633	0.1627	L	0.28192	0.835	0.80722	D	1	P	0.34699	0.464	B	0.32928	0.155	T	0.56438	-0.7979	10	0.72032	D	0.01	-24.259	14.8591	0.70366	0.0:0.0:0.0:1.0	.	201	Q9H2F3	3BHS7_HUMAN	S	201	ENSP00000297679:I201S	ENSP00000297679:I201S	I	+	2	0	HSD3B7	30905732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.469000	0.60169	2.154000	0.67381	0.459000	0.35465	ATC		0.662	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			13	45	0	0	0	1	0	13	45					G	30998231	T	G	30998231	3	3	380	1	0	0	0	0	1	0	0	0	7392	1435	50	5	620	5	HSD3B7	16	30998231	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		30998231	59356522	17	34594											
CHMP1A	5119	broad.mit.edu	37	chr16	89720317	89720317	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccattcggtacataccttcaActggaacagggtatctgcaa	8	11	2	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:89720317A>G	ENST00000397901.3	-	2	278	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000253475.5_Intron|CHMP1A_ENST00000535997.2_Intron|CHMP1A_ENST00000550102.1_Silent_p.L8L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	8					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CATACCTTCAACTGGAACAGG	0.502																																						ENST00000397901.3																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(22-24)Ttg>Ctg		charged multivesicular body protein 1A							148	146	147					16																	89720317		2000	4158	6158	SO:0001819	synonymous_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89720317A>G	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"Charged multivesicular body proteins"	8740	protein-coding gene	gene with protein product		164010	"procollagen (type III) N-endopeptidase", "chromatin modifying protein 1A"	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.22T>C	16.37:g.89720317A>G						CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000535997.2_Intron|CHMP1A_ENST00000550102.1_Silent_p.L8L|CHMP1A_ENST00000253475.5_Intron	p.L8L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	278	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	8					A2RU09|Q14468|Q15779|Q96G31	Silent	SNP	ENST00000397901.3	37	c.22T>C	CCDS45552.1																																																																																				0.502	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		32	61	0	0	0	1	0	32	61					G	89720317	A	G	89720317	2	3	380	1	0	0	0	0	0	0	0	1	3352	40	2	3		3	CHMP1A	16	89720317	Silent	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	58722086	89720317	634436	18	34595											
TP53	7157	broad.mit.edu	37	chr17	7573991	7573992	+	Frame_Shift_Ins	INS	-	-	A													tccttgagttccaaggcctcINSattcagctctcggaacatct							TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr17:7573991_7573992insA	ENST00000269305.4	-	10	1224_1225	c.1035_1036insT	c.(1033-1038)aatgagfs	p.E346fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.E346fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|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	346	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> A (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.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TCCAAGGCCTCATTCAGCTCTC	0.579		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)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		16	Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(1)|Deletion - In frame(1)	p.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|adrenal_gland(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|lung(1)|breast(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						c.(1033-1038)aaaggcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573991_7573992insA	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.1036dupT	17.37:g.7573992_7573992dupA	ENSP00000269305:p.Glu346fs	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)				TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.KG345fs	p.KG345fs	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1224_1225	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	345			Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.1035_1036insT	CCDS11118.1																																																																																				0.579	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	9						16	9	---	---	---	---	A	7573992	-	A	7573991	7	5	380	1	0	1	1	0	0	0	0	0	16378	835	29	0	153	0	TP53	17	7573991	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08		7573991	73621219	19	34596											
KIAA1632	57724	broad.mit.edu	37	chr18	43505774	43505774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattcttcaccactgtcaggTtgtaattcaataaccaatcc	4	11	4	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr18:43505774T>C	ENST00000282041.5	-	14	2682	c.2648A>G	c.(2647-2649)aAc>aGc	p.N883S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	883					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CACTGTCAGGTTGTAATTCAA	0.403																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(2647-2649)aAc>aGc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							141	126	131					18																	43505774		1865	4104	5969	SO:0001583	missense	57724				autophagy			g.chr18:43505774T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2648A>G	18.37:g.43505774T>C	ENSP00000282041:p.Asn883Ser						p.N883S	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			14	2682	-			883					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.2648A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	9.408	1.079868	0.20309	.	.	ENSG00000152223	ENST00000282041	T	0.08458	3.09	5.47	1.51	0.23008	.	0.959553	0.08751	N	0.899104	T	0.05868	0.0153	L	0.29908	0.895	0.30855	N	0.734183	B;B	0.16603	0.018;0.018	B;B	0.16722	0.016;0.011	T	0.43212	-0.9405	10	0.12103	T	0.63	-9.6051	5.8046	0.18432	0.0:0.2303:0.1329:0.6368	.	883;883	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	S	883	ENSP00000282041:N883S	ENSP00000282041:N883S	N	-	2	0	EPG5	41759772	0.535000	0.26370	0.990000	0.47175	0.995000	0.86356	0.150000	0.16263	0.467000	0.27218	0.529000	0.55759	AAC		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	53	0	0	0	1	0	6	53					C	43505774	T	C	43505774	3	2	380	1	0	0	0	0	1	0	0	0	8249	1725	60	3	5215	3	KIAA1632	18	43505774	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		43505774	34571474	20	34597											
BSG	682	broad.mit.edu	37	chr19	581456	581456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaagggctccgaccagGccatcatcacgctccgcgtg	11	17	2	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:581456G>A	ENST00000333511.3	+	6	1004	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	BSG_ENST00000353555.4_Missense_Mutation_p.A196T|BSG_ENST00000545507.2_Missense_Mutation_p.A103T|BSG_ENST00000346916.4_Missense_Mutation_p.A132T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	312	Ig-like V-type.				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)		CTCCGACCAGGCCATCATCAC	0.647																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(934-936)Gcc>Acc		basigin							33	32	32					19																	581456		2196	4298	6494	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:581456G>A	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		ENST00000333511.3:c.934G>A	19.37:g.581456G>A	ENSP00000333769:p.Ala312Thr					BSG_ENST00000545507.2_Missense_Mutation_p.A103T|BSG_ENST00000353555.4_Missense_Mutation_p.A196T|BSG_ENST00000346916.4_Missense_Mutation_p.A132T	p.A312T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		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)	6	1004	+		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)	312			Ig-like V-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.934G>A	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476481	0.44044	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.68624	-0.34;-0.34;-0.34	4.15	2.03	0.26663	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.132015	0.49916	D	0.000132	T	0.72415	0.3457	M	0.69185	2.1	0.29431	N	0.859887	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.997	P;D;D;D;P	0.65233	0.89;0.91;0.933;0.91;0.871	T	0.65730	-0.6097	10	0.13853	T	0.58	-34.2781	9.192	0.37204	0.1771:0.0:0.8229:0.0	.	196;312;196;312;132	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	T	132;103;312;196	ENSP00000344707:A132T;ENSP00000333769:A312T;ENSP00000343809:A196T	ENSP00000333769:A312T	A	+	1	0	BSG	532456	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	5.054000	0.64275	0.428000	0.26173	-0.251000	0.11542	GCC		0.647	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		8	12	0	0	0	1	0	8	12					A	581456	G	A	581456	3	1	380	1	0	0	0	0	1	0	0	0	1529	1203	42	2	992	2	BSG	19	581456	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		581456	58547527	21	34598											
BCAM	4059	broad.mit.edu	37	chr19	45323986	45323986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggagccagggctgagCcactcggggtcggagcaacc	17	13	0	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:45323986C>A	ENST00000270233.6	+	14	1810	c.1788C>A	c.(1786-1788)agC>agA	p.S596R		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	596					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)				CAGGGCTGAGCCACTCGGGGT	0.716																																						ENST00000270233.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1786-1788)agC>agA		basal cell adhesion molecule (Lutheran blood group)							13	15	14					19																	45323986		2185	4269	6454	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45323986C>A	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.1788C>A	19.37:g.45323986C>A	ENSP00000270233:p.Ser596Arg						p.S596R	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN			14	1810	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	596					A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1788C>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255718	0.59321	.	.	ENSG00000187244	ENST00000270233	T	0.61627	0.09	4.39	3.35	0.38373	.	.	.	.	.	T	0.47673	0.1458	N	0.24115	0.695	0.80722	D	1	P	0.52316	0.952	P	0.49140	0.601	T	0.41752	-0.9491	9	0.46703	T	0.11	-18.4945	8.4615	0.32931	0.0:0.8902:0.0:0.1098	.	596	P50895	BCAM_HUMAN	R	596	ENSP00000270233:S596R	ENSP00000270233:S596R	S	+	3	2	BCAM	50015826	1.000000	0.71417	0.990000	0.47175	0.665000	0.39181	1.614000	0.36911	0.983000	0.38602	0.549000	0.68633	AGC		0.716	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		2	1	1	0	1	1	1	2	1					A	45323986	C	A	45323986	3	1	380	1	0	0	0	0	1	0	0	0	1344	738	26	4	1846	4	BCAM	19	45323986	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	44742530	45323986	13804997	22	34599											
PPP1R16B	26051	broad.mit.edu	37	chr20	37531389	37531389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatccactgcatgatcgCagcgggccaggacctggact	13	13	0	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:37531389C>T	ENST00000299824.1	+	6	839	c.650C>T	c.(649-651)gCa>gTa	p.A217V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A217V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	217					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)				TGCATGATCGCAGCGGGCCAG	0.577																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(649-651)gCa>gTa		protein phosphatase 1, regulatory subunit 16B							103	88	93					20																	37531389		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37531389C>T	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.650C>T	20.37:g.37531389C>T	ENSP00000299824:p.Ala217Val					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A217V	p.A217V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			6	839	+		Myeloproliferative disorder(115;0.00878)	217					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.650C>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.95|11.95	1.791318|1.791318	0.31685|0.31685	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.65916|.	-0.18;0.58|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Ankyrin repeat-containing domain (3);|.	0.270733|.	0.36703|.	N|.	0.002449|.	T|.	0.66327|.	0.2778|.	L|L	0.43152|0.43152	1.355|1.355	0.41882|0.41882	D|D	0.990321|0.990321	P;P|.	0.42827|.	0.791;0.69|.	B;B|.	0.29942|.	0.109;0.109|.	T|.	0.64398|.	-0.6417|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.5774|17.5774	0.87955|0.87955	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	217;217|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	V|X	217|160	ENSP00000299824:A217V;ENSP00000362428:A217V|.	ENSP00000299824:A217V|.	A|Q	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36964803|36964803	0.513000|0.513000	0.26194|0.26194	0.430000|0.430000	0.26722|0.26722	0.335000|0.335000	0.28730|0.28730	1.972000|1.972000	0.40540|0.40540	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.577	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		4	110	0	0	0	1	0	4	110					T	37531389	C	T	37531389	3	4	380	1	0	0	0	0	1	0	0	0	12366	710	25	2	668	2	PPP1R16B	20	37531389	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		37531389	25494131	23	34600											
ATP9A	10079	broad.mit.edu	37	chr20	50314007	50314007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttggatgttagaactctTcaccttcactgtgcctgcaa	7	11	3	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:50314007T>G	ENST00000338821.5	-	5	715	c.451A>C	c.(451-453)Aag>Cag	p.K151Q	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	151					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						TTAGAACTCTTCACCTTCACT	0.443																																						ENST00000338821.5																			0				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						c.(451-453)Aag>Cag		ATPase, class II, type 9A							246	225	232					20																	50314007		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50314007T>G	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.451A>C	20.37:g.50314007T>G	ENSP00000342481:p.Lys151Gln					ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	p.K151Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			5	715	-			151					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.451A>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.785227	0.49997	.	.	ENSG00000054793	ENST00000338821	D	0.90676	-2.71	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.044153	0.85682	D	0.000000	D	0.86100	0.5852	L	0.37561	1.115	0.80722	D	1	B	0.14438	0.01	B	0.15870	0.014	T	0.82072	-0.0638	10	0.36615	T	0.2	-40.298	14.7939	0.69863	0.0:0.0:0.0:1.0	.	151	O75110	ATP9A_HUMAN	Q	151	ENSP00000342481:K151Q	ENSP00000342481:K151Q	K	-	1	0	ATP9A	49747414	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.449000	0.80643	1.889000	0.54706	0.533000	0.62120	AAG		0.443	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		40	62	0	0	0	1	0	40	62					G	50314007	T	G	50314007	3	3	380	1	0	0	0	0	1	0	0	0	1198	1792	62	5	2788	5	ATP9A	20	50314007	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08	12782618	50314007	12711513	24	34601											
GGA1	26088	broad.mit.edu	37	chr22	38013019	38013019	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacggtgagaaggggagaGgccaccatccgtcccccgcc	14	14	0	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr22:38013019G>A	ENST00000343632.4	+	3	590				GGA1_ENST00000406772.1_Intron|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Silent_p.E73E|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000414350.3_Silent_p.E73E|GGA1_ENST00000405147.3_Intron	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						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)					GAAGGGGAGAGGCCACCATCC	0.627																																						ENST00000381756.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(217-219)gaG>gaA		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							55	52	53					22																	38013019		2201	4294	6495	SO:0001627	intron_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38013019G>A	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.204+15G>A	22.37:g.38013019G>A						GGA1_ENST00000325180.8_Intron|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Silent_p.E73E|GGA1_ENST00000405147.3_Intron	p.E73E			Q9UJY5	GGA1_HUMAN			3	355	+	Melanoma(58;0.0574)		69			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Silent	SNP	ENST00000343632.4	37	c.219G>A	CCDS13951.1																																																																																				0.627	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		4	10	0	0	0	1	0	4	10					A	38013019	G	A	38013019	1	1	380	0	1	0	0	0	0	0	0	0	6352	991	35	2		2	GGA1	22	38013019	Intron	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		38013019	13291547	25	34602											
FRMPD4	9758	broad.mit.edu	37	chrX	12736538	12736538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactaccacttggccaagcGgatgtcatcactgcaaagcg	10	12	2	1	rs376320353		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:12736538G>A	ENST00000380682.1	+	16	4099	c.3593G>A	c.(3592-3594)cGg>cAg	p.R1198Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1198					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTGGCCAAGCGGATGTCATCA	0.582																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3592-3594)cGg>cAg		FERM and PDZ domain containing 4		G	GLN/ARG	1,3834		0,0,1,1632,570	127	118	121		3593	5.5	1	X		121	0,6728		0,0,0,2428,1872	no	missense	FRMPD4	NM_014728.3	43	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging	1198/1323	12736538	1,10562	2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736538G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3593G>A	X.37:g.12736538G>A	ENSP00000370057:p.Arg1198Gln						p.R1198Q	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	4099	+			1198					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3593G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675462	0.67928	2.61E-4	0.0	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.11063	2.81	5.5	5.5	0.81552	.	0.181464	0.49916	D	0.000139	T	0.26195	0.0639	M	0.67953	2.075	0.36147	D	0.847194	D;D	0.89917	1.0;1.0	P;P	0.59357	0.856;0.856	T	0.18650	-1.0330	10	0.72032	D	0.01	-13.8886	11.917	0.52771	0.0817:0.0:0.9183:0.0	.	1190;1198	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Q	1198;1189;1187	ENSP00000370057:R1198Q	ENSP00000304583:R1187Q	R	+	2	0	FRMPD4	12646459	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.579000	0.82511	2.295000	0.77249	0.600000	0.82982	CGG		0.582	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		6	129	0	0	0	1	0	6	129					A	12736538	G	A	12736538	3	1	380	1	0	0	0	0	1	0	0	0	6059	1116	39	1	3655	1	FRMPD4	23	12736538	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		12736538	142534022	26	34603											
FAM123B	139285	broad.mit.edu	37	chrX	63412447	63412447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggttctggtgttggAgaaacttttggcccaggggc	17	6	1	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:63412447A>G	ENST00000330258.3	-	2	992	c.720T>C	c.(718-720)tcT>tcC	p.S240S	AMER1_ENST00000403336.1_Silent_p.S240S|AMER1_ENST00000374869.3_Silent_p.S240S	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	240					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)									CTGGTGTTGGAGAAACTTTTG	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(718-720)tcT>tcC		APC membrane recruitment protein 1							96	95	95					X																	63412447		2203	4297	6500	SO:0001819	synonymous_variant	139285							g.chrX:63412447A>G	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.720T>C	X.37:g.63412447A>G						AMER1_ENST00000374869.3_Silent_p.S240S|AMER1_ENST00000403336.1_Silent_p.S240S	p.S240S	NM_152424.3	NP_689637.3					2	992	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.720T>C	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		28	88	0	0	0	1	0	28	88					G	63412447	A	G	63412447	2	3	380	1	0	0	0	0	0	0	0	1	5423	291	11	3		3	FAM123B	23	63412447	Silent	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	50675909	63412447	91858113	27	34604											
ATRX	546	broad.mit.edu	37	chrX	76918915	76918915	+	Frame_Shift_Del	DEL	T	T	-													cttctttatgctctttaggcTttgtctttttttcttctcca							TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:76918915delT	ENST00000373344.5	-	12	4290	c.4076delA	c.(4075-4077)aagfs	p.K1359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1359					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						CTCTTTAGGCTTTGTCTTTTT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4075-4077)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						176	146	156					X																	76918915		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918915delT	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.4076delA	X.37:g.76918915delT	ENSP00000362441:p.Lys1359fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1321fs	p.K1359fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4290	-			1359					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4076delA	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	29						17	29	---	---	---	---	-	76918915	T	-	76918915	7	5	380	1	0	1	0	1	0	0	0	0	1208	1609	56	0	3498	0	ATRX	23	76918915	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	13506468	76918915	78351645	28	34605											
PCDH19	57526	broad.mit.edu	37	chrX	99662601	99662601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcacgctgacggtgAccttgcagtgtgccgggatg	15	11	0	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:99662601A>G	ENST00000373034.4	-	1	2670	c.995T>C	c.(994-996)gTc>gCc	p.V332A	PCDH19_ENST00000255531.7_Missense_Mutation_p.V332A|PCDH19_ENST00000420881.2_Missense_Mutation_p.V332A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	332	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						GCTGACGGTGACCTTGCAGTG	0.602																																						ENST00000373034.4																			0				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						c.(994-996)gTc>gCc		protocadherin 19							46	51	49					X																	99662601		2194	4276	6470	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662601A>G	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.995T>C	X.37:g.99662601A>G	ENSP00000362125:p.Val332Ala					PCDH19_ENST00000420881.2_Missense_Mutation_p.V332A|PCDH19_ENST00000255531.7_Missense_Mutation_p.V332A	p.V332A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2670	-			332			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.995T>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760508	0.69763	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.60920	0.15;0.15;0.15	5.65	5.65	0.86999	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	M	0.90145	3.09	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.83275	0.996;0.954;0.973	D	0.84862	0.0820	10	0.87932	D	0	.	15.0094	0.71539	1.0:0.0:0.0:0.0	.	332;332;332	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	332	ENSP00000400327:V332A;ENSP00000362125:V332A;ENSP00000255531:V332A	ENSP00000255531:V332A	V	-	2	0	PCDH19	99549257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	1.995000	0.58328	0.417000	0.27973	GTC		0.602	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		20	48	0	0	0	1	0	20	48					G	99662601	A	G	99662601	3	3	380	1	0	0	0	0	1	0	0	0	11514	275	10	3	2475	3	PCDH19	23	99662601	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	22743686	99662601	55607959	29	34606											
KCNAB2	8514	broad.mit.edu	37	chr1	6155592	6155592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttttcctcttcaggaGtgggcgccatgacctggtcc	11	14	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:6155592G>T	ENST00000164247.1	+	13	1276	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	KCNAB2_ENST00000378083.3_Missense_Mutation_p.V286L|KCNAB2_ENST00000352527.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.V171L|KCNAB2_ENST00000378092.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000378087.3_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	238					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)	p.V238L(1)		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)		CTCTTCAGGAGTGGGCGCCAT	0.632																																						ENST00000164247.1																			1	Substitution - Missense(1)	p.V238L(1)	lung(1)	large_intestine(1)|lung(4)|skin(3)	8						c.(712-714)Gtg>Ttg		potassium voltage-gated channel, shaker-related subfamily, beta member 2							86	85	85					1																	6155592		2203	4299	6502	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6155592G>T	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.712G>T	1.37:g.6155592G>T	ENSP00000164247:p.Val238Leu					KCNAB2_ENST00000378083.3_Missense_Mutation_p.V286L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.V171L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Missense_Mutation_p.V224L	p.V238L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN		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)	13	1276	+	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)	238					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.712G>T	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591699	0.46214	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.75	4.75	0.60458	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.31054	0.306;0.042;0.052;0.003	B;B;B;B	0.37091	0.241;0.052;0.054;0.012	T	0.02766	-1.1113	10	0.07325	T	0.83	-19.8608	16.3108	0.82869	0.0:0.0:1.0:0.0	.	286;224;238;238	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	L	238;224;224;238;238;224;238;286;171	ENSP00000367337:V238L;ENSP00000367332:V224L;ENSP00000400285:V224L;ENSP00000374283:V238L;ENSP00000340824:V238L;ENSP00000318772:V224L;ENSP00000164247:V238L;ENSP00000367323:V286L;ENSP00000396167:V171L	ENSP00000164247:V238L	V	+	1	0	KCNAB2	6078179	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.736000	0.98828	2.187000	0.69744	0.561000	0.74099	GTG		0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		45	41	1	0	1.76056e-25	1	1.9396e-25	45	41					T	6155592	G	T	6155592	3	4	381	1	0	0	0	0	1	0	0	0	8010	1029	36	4	758	4	KCNAB2	1	6155592	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		6155592	243095029	1	34607											
NOTCH2	4853	broad.mit.edu	37	chr1	120491184	120491184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatgtcaatggtacaccGctgacctaggaacacagggc	11	11	2	1	rs587730290		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:120491184G>A	ENST00000256646.2	-	17	2824	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	869	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGTACACCGCTGACCTAGG	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		21478	0.0		0.001	False		,,,				2504	0.0					ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"N, F, Mis"	Notch homolog 2			L			"marginal zone lymphoma, DLBCL"		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(2605-2607)Cgg>Tgg		notch 2							121	99	107					1																	120491184		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120491184G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2605C>T	1.37:g.120491184G>A	ENSP00000256646:p.Arg869Trp		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504		p.R869W	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2824	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	869			EGF-like 22.		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.2605C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933963	0.34096	.	.	ENSG00000134250	ENST00000256646	T	0.11604	2.76	5.71	3.82	0.43975	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.233214	0.21963	U	0.066574	T	0.15912	0.0383	M	0.72576	2.205	0.20926	N	0.999828	D;D	0.71674	0.998;0.995	D;P	0.63192	0.912;0.745	T	0.09314	-1.0680	10	0.37606	T	0.19	.	15.4479	0.75248	0.0:0.0:0.5541:0.4459	.	869;869	Q6IQ50;Q04721	.;NOTC2_HUMAN	W	869	ENSP00000256646:R869W	ENSP00000256646:R869W	R	-	1	2	NOTCH2	120292707	0.008000	0.16893	0.979000	0.43373	0.240000	0.25518	0.786000	0.26844	0.433000	0.26313	-0.824000	0.03097	CGG		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		29	32	0	0	0	1	0	29	32					A	120491184	G	A	120491184	3	1	381	1	0	0	0	0	1	0	0	0	10548	1086	38	1	4882	1	NOTCH2	1	120491184	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	114335592	120491184	128759437	2	34608											
NCKAP1	10787	broad.mit.edu	37	chr2	183866755	183866755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatcatctggccaaggcGtgggtattctctgtcactta	9	11	4	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:183866755G>A	ENST00000361354.4	-	6	901	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R183C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	177					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(547-549)Cgc>Tgc		NCK-associated protein 1							147	146	147					2																	183866755		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866755G>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.529C>T	2.37:g.183866755G>A	ENSP00000355348:p.Arg177Cys					NCKAP1_ENST00000361354.3_Missense_Mutation_p.R177C	p.R183C	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	1305	-			177					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.547C>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749934	0.69533	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57752	0.38;0.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77955	0.4208	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81577	-0.0869	10	0.87932	D	0	-6.8641	19.4491	0.94860	0.0:0.0:1.0:0.0	.	177;183	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	C	177;183	ENSP00000355348:R177C;ENSP00000354251:R183C	ENSP00000354251:R183C	R	-	1	0	NCKAP1	183575000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.630000	0.61297	2.603000	0.88011	0.650000	0.86243	CGC		0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		8	77	0	0	0	1	0	8	77					A	183866755	G	A	183866755	3	1	381	1	0	0	0	0	1	0	0	0	10221	1145	40	1	2961	1	NCKAP1	2	183866755	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		183866755	59332618	3	34609											
ZC3H15	55854	broad.mit.edu	37	chr2	187371527	187371527	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caggtattactgtagccagtCttgaaagattcagcacatat	8	8	2	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:187371527C>G	ENST00000337859.6	+	9	1281	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	352					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGTAGCCAGTCTTGAAAGATT	0.348																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(1054-1056)Ctt>Gtt		zinc finger CCCH-type containing 15							131	121	124					2																	187371527		1847	4094	5941	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187371527C>G		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.1054C>G	2.37:g.187371527C>G	ENSP00000338788:p.Leu352Val						p.L352V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		9	1281	+			352					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.1054C>G	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663119	0.47572	.	.	ENSG00000065548	ENST00000337859;ENST00000536434;ENST00000445547	T;T	0.49432	1.54;0.78	6.03	4.21	0.49690	.	0.486738	0.24791	N	0.035562	T	0.30070	0.0753	N	0.17474	0.49	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.04870	-1.0921	10	0.27082	T	0.32	-2.5915	10.5697	0.45194	0.0:0.6823:0.2523:0.0654	.	352	Q8WU90	ZC3HF_HUMAN	V	352;352;30	ENSP00000338788:L352V;ENSP00000415788:L30V	ENSP00000338788:L352V	L	+	1	0	ZC3H15	187079772	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.792000	0.47837	0.853000	0.35312	-0.315000	0.08773	CTT		0.348	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		23	61	0	0	0	1	0	23	61					G	187371527	C	G	187371527	3	3	381	1	0	0	0	0	1	0	0	0	17564	913	32	4	1088	4	ZC3H15	2	187371527	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	3504772	187371527	55827846	4	34610											
COL5A2	1290	broad.mit.edu	37	chr2	189898826	189898826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactggcccaatttcaacGccgaattcctggtctgtgcc	8	14	2	0	rs142895373	byFrequency	TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:189898826G>A	ENST00000374866.3	-	54	4744	c.4470C>T	c.(4468-4470)ggC>ggT	p.G1490G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1490	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|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)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G1490G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAATTTCAACGCCGAATTCCT	0.473																																						ENST00000374866.3																			1	Substitution - coding silent(1)	p.G1490G(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(4468-4470)ggC>ggT		collagen, type V, alpha 2		G		1,4405	2.1+/-5.4	0,1,2202	154	125	135		4470	2.4	0.4	2	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	COL5A2	NM_000393.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1490/1500	189898826	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189898826G>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4470C>T	2.37:g.189898826G>A							p.G1490G	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		54	4744	-			1490			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.4470C>T	CCDS33350.1																																																																																				0.473	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		24	54	0	0	0	1	0	24	54					A	189898826	G	A	189898826	2	1	381	1	0	0	0	0	0	0	0	1	3697	1074	38	1		1	COL5A2	2	189898826	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	2527299	189898826	53300547	5	34611											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	41	0	0	0	1	0	21	41					T	209113112	C	T	209113112	3	4	381	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	19214286	209113112	34086261	6	34612											
SCAND3	114821	broad.mit.edu	37	chr6	28540332	28540332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcattaagatcattaaAaatactgaagatatcagaca	6	5	2	5			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:28540332A>G	ENST00000452236.2	-	4	3951	c.3334T>C	c.(3334-3336)Ttt>Ctt	p.F1112L		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						agatcattaaaaatactgaag	0.353																																						ENST00000452236.2																			0				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						c.(3334-3336)Ttt>Ctt		SCAN domain containing 3							59	61	60					6																	28540332		2194	4290	6484	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540332A>G																												ENST00000452236.2:c.3334T>C	6.37:g.28540332A>G	ENSP00000395259:p.Phe1112Leu						p.F1112L	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3951	-			1112	F -> FF (in Ref. 3; CAD28490).					Missense_Mutation	SNP	ENST00000452236.2	37	c.3334T>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	A	0.683	-0.797464	0.02862	.	.	ENSG00000232040	ENST00000452236	T	0.26067	1.76	2.53	2.53	0.30540	Ribonuclease H-like (1);	2.437400	0.02530	N	0.093545	T	0.05135	0.0137	N	0.00507	-1.42	0.27287	N	0.957945	P	0.46578	0.88	P	0.62184	0.899	T	0.58267	-0.7666	10	0.02654	T	1	.	6.9733	0.24660	1.0:0.0:0.0:0.0	.	1112	Q6R2W3	SCND3_HUMAN	L	1112	ENSP00000395259:F1112L	ENSP00000395259:F1112L	F	-	1	0	SCAND3	28648311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.260000	0.43267	1.405000	0.46838	0.533000	0.62120	TTT		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			20	37	0	0	0	1	0	20	37					G	28540332	A	G	28540332	3	3	381	1	0	0	0	0	1	0	0	0	13876	14	1	3	647	3	SCAND3	6	28540332	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		28540332	142574735	7	34613											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	71	0	0	0	1	0	4	71					A	45390463	G	A	45390463	2	1	381	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	16850131	45390463	125724604	8	34614											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	21	6	0	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000395435.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(571-573)gCc>gTc		sulfatase modifying factor 2							80	82	81					7																	56142409		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142409C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.515C>T	7.37:g.56142409C>T	ENSP00000406445:p.Ala172Val		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V	p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	603	+	Breast(14;0.214)		172					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		5	172	0	0	0	1	0	5	172					T	56142409	C	T	56142409	3	4	381	1	0	0	0	0	1	0	0	0	15383	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		56142409	102996254	9	34615											
STAG3L4	64940	broad.mit.edu	37	chr7	66771046	66771046	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagcttgttaactttTtcatctgatcttgtggatgt	9	6	4	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:66771046T>G	ENST00000416602.2	+	0	338					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGTTAACTTTTTCATCTGATC	0.388																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															170	175	173					7																	66771046		2203	4300	6503			0							g.chr7:66771046T>G			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66771046T>G								NR_040586.1		Q8TBR4	STG34_HUMAN			0	338	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37			.	.	.	.	.	.	.	.	.	.	t	9.880	1.201199	0.22121	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	1.37	-0.658	0.11428	.	0.109131	0.41396	N	0.000898	T	0.21881	0.0527	.	.	.	0.20074	N	0.999932	B	0.32425	0.371	B	0.17433	0.018	T	0.15235	-1.0444	7	0.87932	D	0	.	4.2006	0.10464	0.3019:0.0:0.0:0.6981	.	21	Q8TBR4	STG34_HUMAN	L	21	.	ENSP00000342950:F21L	F	+	3	2	STAG3L4	66408481	1.000000	0.71417	0.938000	0.37757	0.293000	0.27360	3.740000	0.55082	0.594000	0.29761	0.113000	0.15668	TTT		0.388	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		52	81	0	0	0	1	0	52	81					G	66771046	T	G	66771046	1	3	381	0	1	0	0	0	0	0	0	0	15246	1838	64	5		5	STAG3L4	7	66771046	RNA	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	10628637	66771046	92367617	10	34616											
PCLO	27445	broad.mit.edu	37	chr7	82578793	82578793	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaagaatcactcttaccGtatagccctcggtatactga	7	10	2	3	rs530909855		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:82578793G>A	ENST00000333891.9	-	6	11448	c.11111C>T	c.(11110-11112)aCg>aTg	p.T3704M	PCLO_ENST00000437081.1_Splice_Site_p.T424M|PCLO_ENST00000423517.2_Splice_Site_p.T3704M	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						CACTCTTACCGTATAGCCCTC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18581	0.0		0.0	False		,,,				2504	0.001					ENST00000423517.2																			0				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						c.e6+1		piccolo presynaptic cytomatrix protein							145	139	141					7																	82578793		1897	4135	6032	SO:0001630	splice_region_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82578793G>A	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.11112+1C>T	7.37:g.82578793G>A						PCLO_ENST00000333891.8_Splice_Site_p.T3704_splice|PCLO_ENST00000437081.1_Splice_Site_p.T424_splice	p.T3704_splice	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	11448	-			3635						Splice_Site	SNP	ENST00000333891.9	37	c.11112_splice	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933593	0.52866	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15952	2.38;2.38	5.92	4.94	0.65067	.	.	.	.	.	T	0.07638	0.0192	N	0.16478	0.41	0.33221	D	0.55472	B;P;B	0.38167	0.11;0.621;0.414	B;B;B	0.24155	0.004;0.051;0.034	T	0.07673	-1.0760	9	0.87932	D	0	.	3.931	0.09285	0.3173:0.0:0.6827:0.0	.	3635;3704;3704	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	M	3635;3704;3704;424	ENSP00000334319:T3704M;ENSP00000388393:T3704M	ENSP00000334319:T3704M	T	-	2	0	PCLO	82416729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.008000	0.70739	2.801000	0.96364	0.650000	0.86243	ACG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	Missense_Mutation	66	165	0	0	0	1	0	66	165					A	82578793	G	A	82578793	5	1	381	1	0	0	0	0	0	0	1	0	11583	1159	40	1	4414	1	PCLO	7	82578793	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	15807747	82578793	76559870	11	34617											
SND1	27044	broad.mit.edu	37	chr7	127631024	127631024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatgccccagaggagcccGaaacctcccaggcttggtgc	12	14	0	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:127631024G>A	ENST00000354725.3	+	16	1888	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	565	TNase-like 4. {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						AGAGGAGCCCGAAACCTCCCA	0.542																																						ENST00000354725.3																			0				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						c.(1693-1695)cGa>cAa		staphylococcal nuclease and tudor domain containing 1							77	66	70					7																	127631024		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127631024G>A		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.1694G>A	7.37:g.127631024G>A	ENSP00000346762:p.Arg565Gln					SND1_ENST00000467238.1_3'UTR	p.R565Q	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			16	1888	+			565			TNase-like 4.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.1694G>A	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663170	0.96745	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.27557	1.66;1.66	5.54	5.54	0.83059	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.50627	D	0.000107	T	0.57110	0.2031	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.56661	-0.7942	10	0.44086	T	0.13	-1.2187	17.3145	0.87218	0.0:0.0:1.0:0.0	.	565	Q7KZF4	SND1_HUMAN	Q	565;555;114	ENSP00000346762:R565Q;ENSP00000419327:R114Q	ENSP00000346762:R565Q	R	+	2	0	SND1	127418260	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.916000	0.87491	2.754000	0.94517	0.655000	0.94253	CGA		0.542	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		12	24	0	0	0	1	0	12	24					A	127631024	G	A	127631024	3	1	381	1	0	0	0	0	1	0	0	0	14844	1058	37	1	1756	1	SND1	7	127631024	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	45052231	127631024	31507639	12	34618											
TRPV6	55503	broad.mit.edu	37	chr7	142571891	142571891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgcatcaggtcgccaaaaAtcatctagaaggagcaggag	11	9	3	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:142571891A>G	ENST00000359396.3	-	12	1702	c.1457T>C	c.(1456-1458)aTt>aCt	p.I486T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	486					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCGCCAAAAATCATCTAGAA	0.547																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1456-1458)aTt>aCt		transient receptor potential cation channel, subfamily V, member 6							68	51	57					7																	142571891		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571891A>G	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1457T>C	7.37:g.142571891A>G	ENSP00000352358:p.Ile486Thr						p.I486T	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			12	1702	-	Melanoma(164;0.059)		486					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1457T>C	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051601	0.55218	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.98381	-4.9;-2.68	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	M	0.83118	2.625	0.80722	D	1	D	0.57257	0.979	D	0.66979	0.948	D	0.99744	1.1016	10	0.87932	D	0	-16.0181	14.171	0.65510	1.0:0.0:0.0:0.0	.	486	Q9H1D0	TRPV6_HUMAN	T	486;318;109	ENSP00000352358:I486T;ENSP00000411100:I109T	ENSP00000310825:I318T	I	-	2	0	TRPV6	142282013	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	8.102000	0.89548	1.996000	0.58369	0.533000	0.62120	ATT		0.547	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		5	35	0	0	0	1	0	5	35					G	142571891	A	G	142571891	3	3	381	1	0	0	0	0	1	0	0	0	16597	101	4	3	736	3	TRPV6	7	142571891	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	14940867	142571891	16566772	13	34619											
TNC	3371	broad.mit.edu	37	chr9	117848575	117848575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatgccattcacacagcGgccgtgctggtgacagtcat	10	13	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr9:117848575G>A	ENST00000350763.4	-	3	1846	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	TNC_ENST00000341037.4_Missense_Mutation_p.R479C|TNC_ENST00000423613.2_Missense_Mutation_p.R479C|TNC_ENST00000346706.3_Missense_Mutation_p.R479C|TNC_ENST00000340094.3_Missense_Mutation_p.R479C|TNC_ENST00000542877.1_Missense_Mutation_p.R479C|TNC_ENST00000535648.1_Missense_Mutation_p.R479C|TNC_ENST00000537320.1_Missense_Mutation_p.R479C|TNC_ENST00000345230.3_Missense_Mutation_p.R479C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	479	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCACACAGCGGCCGTGCTGG	0.582																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1435-1437)Cgc>Tgc		tenascin C							149	142	144					9																	117848575		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848575G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1435C>T	9.37:g.117848575G>A	ENSP00000265131:p.Arg479Cys					TNC_ENST00000535648.1_Missense_Mutation_p.R479C|TNC_ENST00000423613.2_Missense_Mutation_p.R479C|TNC_ENST00000340094.3_Missense_Mutation_p.R479C|TNC_ENST00000345230.3_Missense_Mutation_p.R479C|TNC_ENST00000341037.4_Missense_Mutation_p.R479C|TNC_ENST00000537320.1_Missense_Mutation_p.R479C|TNC_ENST00000542877.1_Missense_Mutation_p.R479C|TNC_ENST00000346706.3_Missense_Mutation_p.R479C	p.R479C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1846	-			479			EGF-like 11.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1435C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154440	0.57259	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9	5.82	5.82	0.92795	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.332477	0.37577	N	0.002036	T	0.25975	0.0633	M	0.92026	3.265	0.58432	D	0.999999	D;D	0.89917	1.0;0.994	D;P	0.68621	0.959;0.846	T	0.03981	-1.0987	10	0.87932	D	0	.	19.0681	0.93122	0.0:0.0:1.0:0.0	.	479;479	E9PC84;P24821	.;TENA_HUMAN	C	479	ENSP00000344400:R479C;ENSP00000438152:R479C;ENSP00000344555:R479C;ENSP00000345861:R479C;ENSP00000265131:R479C;ENSP00000339553:R479C;ENSP00000411406:R479C;ENSP00000443478:R479C;ENSP00000442242:R479C	ENSP00000344400:R479C	R	-	1	0	TNC	116888396	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.578000	0.60929	2.753000	0.94483	0.462000	0.41574	CGC		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		89	191	0	0	0	1	0	89	191					A	117848575	G	A	117848575	3	1	381	1	0	0	0	0	1	0	0	0	16267	1116	39	1	5274	1	TNC	9	117848575	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		117848575	23364856	14	34620											
PWWP2B	170394	broad.mit.edu	37	chr10	134218474	134218474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcggcggcgtctgtcccGcaaccgcgacccggggcgcc	15	19	1	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr10:134218474G>A	ENST00000305233.5	+	2	529	c.470G>A	c.(469-471)cGc>cAc	p.R157H	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R157H	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	157										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTCTGTCCCGCAACCGCGAC	0.726																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(469-471)cGc>cAc		PWWP domain containing 2B							6	6	6					10																	134218474		1896	3775	5671	SO:0001583	missense	170394							g.chr10:134218474G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.470G>A	10.37:g.134218474G>A	ENSP00000306324:p.Arg157His					PWWP2B_ENST00000368609.4_Missense_Mutation_p.R157H	p.R157H	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	529	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	157					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.470G>A	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	G	32	5.130804	0.94473	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.27890	1.64;1.64	3.92	3.92	0.45320	.	0.000000	0.38381	U	0.001710	T	0.50446	0.1616	L	0.55990	1.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.55023	-0.8205	10	0.72032	D	0.01	-12.6993	15.4817	0.75534	0.0:0.0:1.0:0.0	.	157	Q6NUJ5	PWP2B_HUMAN	H	157	ENSP00000306324:R157H;ENSP00000357598:R157H	ENSP00000306324:R157H	R	+	2	0	PWWP2B	134068464	0.986000	0.35501	0.976000	0.42696	0.882000	0.50991	2.368000	0.44222	2.189000	0.69895	0.455000	0.32223	CGC		0.726	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		14	23	0	0	0	1	0	14	23					A	134218474	G	A	134218474	3	1	381	1	0	0	0	0	1	0	0	0	12846	1087	38	1	476	1	PWWP2B	10	134218474	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		134218474	1316273	15	34621											
OR5AS1	219447	broad.mit.edu	37	chr11	55798589	55798589	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgagcatcaagtcctcagGtggcagaagcaaaacattct	10	9	3	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:55798589G>T	ENST00000313555.1	+	1	695	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAGTCCTCAGGTGGCAGAAGC	0.453																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(694-696)gGt>gTt		olfactory receptor, family 5, subfamily AS, member 1							181	162	168					11																	55798589		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798589G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.695G>T	11.37:g.55798589G>T	ENSP00000324111:p.Gly232Val						p.G232V	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	695	+	Esophageal squamous(21;0.00693)		232					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.695G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274919	0.40194	.	.	ENSG00000181785	ENST00000313555	T	0.00107	8.72	5.23	0.0343	0.14183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	U	0.003525	T	0.00241	0.0007	L	0.39514	1.22	0.19300	N	0.999977	D	0.69078	0.997	D	0.65874	0.939	T	0.51608	-0.8684	10	0.72032	D	0.01	.	9.2765	0.37703	0.4546:0.0:0.5454:0.0	.	232	Q8N127	O5AS1_HUMAN	V	232	ENSP00000324111:G232V	ENSP00000324111:G232V	G	+	2	0	OR5AS1	55555165	0.000000	0.05858	0.015000	0.15790	0.801000	0.45260	0.424000	0.21330	0.212000	0.20703	0.643000	0.83706	GGT		0.453	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		67	112	1	0	4.13886e-29	1	4.63838e-29	67	112					T	55798589	G	T	55798589	3	4	381	1	0	0	0	0	1	0	0	0	11146	1261	44	4	697	4	OR5AS1	11	55798589	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		55798589	79207927	16	34622											
HYLS1	219844	broad.mit.edu	37	chr11	125770123	125770123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaccttgcaaatggtgTcatacccaggaagcttccct	9	11	1	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:125770123T>C	ENST00000425380.2	+	3	1641	c.860T>C	c.(859-861)gTc>gCc	p.V287A	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.V287A|HYLS1_ENST00000356438.3_Missense_Mutation_p.V287A	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	287						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCAAATGGTGTCATACCCAGG	0.403																																					Esophageal Squamous(172;2590 2636 8884 10471)	ENST00000425380.2																			0				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9						c.(859-861)gTc>gCc		hydrolethalus syndrome 1							100	97	98					11																	125770123		2201	4299	6500	SO:0001583	missense	219844					centrosome|nucleus		g.chr11:125770123T>C	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.860T>C	11.37:g.125770123T>C	ENSP00000414884:p.Val287Ala					PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000356438.3_Missense_Mutation_p.V287A|HYLS1_ENST00000526028.1_Missense_Mutation_p.V287A	p.V287A	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	1641	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	287					B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	c.860T>C	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420342	0.42918	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.64991	-0.13;-0.13;-0.13	6.02	3.68	0.42216	.	0.648498	0.13652	N	0.372207	T	0.53351	0.1791	L	0.51422	1.61	0.54753	D	0.999981	B	0.06786	0.001	B	0.08055	0.003	T	0.45600	-0.9250	10	0.46703	T	0.11	.	6.8412	0.23963	0.2351:0.0643:0.0:0.7006	.	287	Q96M11	HYLS1_HUMAN	A	287	ENSP00000348815:V287A;ENSP00000414884:V287A;ENSP00000436833:V287A	ENSP00000348815:V287A	V	+	2	0	HYLS1	125275333	0.624000	0.27102	0.982000	0.44146	0.982000	0.71751	1.345000	0.33953	0.507000	0.28148	0.533000	0.62120	GTC		0.403	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		27	44	0	0	0	1	0	27	44					C	125770123	T	C	125770123	3	2	381	1	0	0	0	0	1	0	0	0	7469	1667	58	3	862	3	HYLS1	11	125770123	Missense_Mutation	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	69971534	125770123	9236393	17	34623											
ZC3H13	23091	broad.mit.edu	37	chr13	46619598	46619598	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgggatgtgctatcagatatAgtcttggtattttccactgt	10	7	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr13:46619598A>G	ENST00000242848.4	-	2	393	c.45T>C	c.(43-45)acT>acC	p.T15T	ZC3H13_ENST00000282007.3_Silent_p.T15T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	15							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)		TATCAGATATAGTCTTGGTAT	0.413																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				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						c.(43-45)acT>acC		zinc finger CCCH-type containing 13							216	221	220					13																	46619598		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46619598A>G	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.45T>C	13.37:g.46619598A>G						ZC3H13_ENST00000282007.3_Silent_p.T15T	p.T15T			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	2	393	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	15					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.45T>C																																																																																					0.413	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		52	105	0	0	0	1	0	52	105					G	46619598	A	G	46619598	2	3	381	1	0	0	0	0	0	0	0	1	17562	407	15	3		3	ZC3H13	13	46619598	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		46619598	68550280	18	34624											
C15orf43	145645	broad.mit.edu	37	chr15	45248953	45248953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggttggttttgcggcagcGttagccaggatctgaggcaa	16	8	1	1	rs369672721		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr15:45248953G>A	ENST00000340827.3	+	1	54	c.37G>A	c.(37-39)Gtt>Att	p.V13I		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	13										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)		TTGCGGCAGCGTTAGCCAGGA	0.582																																						ENST00000340827.3																			0				NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8						c.(37-39)Gtt>Att		chromosome 15 open reading frame 43		G	ILE/VAL	0,4396		0,0,2198	102	92	95		37	4.8	1	15		95	2,8594		0,2,4296	no	missense	C15orf43	NM_152448.1	29	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	13/221	45248953	2,12990	2198	4298	6496	SO:0001583	missense	145645							g.chr15:45248953G>A	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.37G>A	15.37:g.45248953G>A	ENSP00000340644:p.Val13Ile						p.V13I	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	1	54	+		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)	13						Missense_Mutation	SNP	ENST00000340827.3	37	c.37G>A	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	-	9.277	1.047108	0.19827	0.0	2.33E-4	ENSG00000167014	ENST00000340827	T	0.55588	0.51	4.83	4.83	0.62350	.	0.000000	0.51477	D	0.000083	T	0.61350	0.2340	L	0.32530	0.975	0.33155	D	0.546262	D	0.71674	0.998	D	0.75484	0.986	T	0.70479	-0.4860	10	0.87932	D	0	.	13.6092	0.62065	0.0:0.0:1.0:0.0	.	13	Q8NHR7	CO043_HUMAN	I	13	ENSP00000340644:V13I	ENSP00000340644:V13I	V	+	1	0	C15orf43	43036245	1.000000	0.71417	0.995000	0.50966	0.033000	0.12548	4.391000	0.59652	2.666000	0.90696	0.643000	0.83706	GTT		0.582	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		26	78	0	0	0	1	0	26	78					A	45248953	G	A	45248953	3	1	381	1	0	0	0	0	1	0	0	0	1797	1145	40	1	39	1	C15orf43	15	45248953	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		45248953	57282439	19	34625											
PRR14	78994	broad.mit.edu	37	chr16	30664041	30664041	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacctctttctcttccaGgtccccgtggtgccctcaaa	7	16	3	1	rs147414936		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:30664041G>A	ENST00000542965.2	+	3	648		c.e3-1		PRR14_ENST00000300835.4_Splice_Site			Q9BWN1	PRR14_HUMAN	proline rich 14											breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTCTCTTCCAGGTCCCCGTGG	0.587																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.e3-1		proline rich 14							100	90	94					16																	30664041		2197	4300	6497	SO:0001630	splice_region_variant	78994							g.chr16:30664041G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.193-1G>A	16.37:g.30664041G>A						PRR14_ENST00000300835.4_Splice_Site				Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		3	648	+								Q8WTX2	Splice_Site	SNP	ENST00000542965.2	37		CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671608	0.47781	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8984	0.70659	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRR14	30571542	0.995000	0.38212	0.388000	0.26195	0.214000	0.24535	4.350000	0.59392	2.584000	0.87258	0.585000	0.79938	.		0.587	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031	Intron	4	107	0	0	0	1	0	4	107					A	30664041	G	A	30664041	5	1	381	1	0	0	0	0	0	0	1	0	12586	1014	35	2	202	2	PRR14	16	30664041	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		30664041	59690712	20	34626											
LONP2	83752	broad.mit.edu	37	chr16	48296697	48296697	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccacagactcaaaaAaatgcctcagtcaatgccag	5	13	4	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:48296697A>C	ENST00000285737.4	+	6	989	c.896A>C	c.(895-897)aAa>aCa	p.K299T	LONP2_ENST00000535754.1_Missense_Mutation_p.K255T	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGACTCAAAAAAATGCCTCAG	0.348																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(895-897)aAa>aCa		lon peptidase 2, peroxisomal							68	66	66					16																	48296697		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48296697A>C	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.896A>C	16.37:g.48296697A>C	ENSP00000285737:p.Lys299Thr					LONP2_ENST00000535754.1_Missense_Mutation_p.K255T	p.K299T	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			6	989	+			299						Missense_Mutation	SNP	ENST00000285737.4	37	c.896A>C	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376629	0.82682	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.33654	1.4;1.44	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	L	0.47016	1.485	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.58721	0.796;0.844	T	0.45585	-0.9251	10	0.52906	T	0.07	-26.536	16.8222	0.85835	1.0:0.0:0.0:0.0	.	255;299	B7ZKL7;Q86WA8	.;LONP2_HUMAN	T	299;28;255;255	ENSP00000285737:K299T;ENSP00000445426:K255T	ENSP00000285737:K299T	K	+	2	0	LONP2	46854198	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.260000	0.95568	2.371000	0.80710	0.533000	0.62120	AAA		0.348	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		8	18	0	0	0	1	0	8	18					C	48296697	A	C	48296697	3	2	381	1	0	0	0	0	1	0	0	0	8893	14	1	5	918	5	LONP2	16	48296697	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	17632656	48296697	42058056	21	34627											
PSME3	10197	broad.mit.edu	37	chr17	40990763	40990763	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtcaaaatgtgggtaCagctcctgattcccaggata	10	10	1	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:40990763C>T	ENST00000590720.1	+	7	654	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	PSME3_ENST00000592169.1_Nonsense_Mutation_p.Q85*|PSME3_ENST00000293362.3_Nonsense_Mutation_p.Q154*|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Nonsense_Mutation_p.Q80*|PSME3_ENST00000441946.2_Nonsense_Mutation_p.Q152*			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	141					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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|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 proteasomal protein catabolic process (GO:0061136)|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 activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AATGTGGGTACAGCTCCTGAT	0.463																																						ENST00000293362.3																			0				NS(1)|cervix(1)|large_intestine(3)|lung(1)	6						c.(460-462)Cag>Tag		proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)							91	94	93					17																	40990763		2203	4300	6503	SO:0001587	stop_gained	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40990763C>T	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.421C>T	17.37:g.40990763C>T	ENSP00000466794:p.Gln141*					PSME3_ENST00000590720.1_Nonsense_Mutation_p.Q141*|PSME3_ENST00000592169.1_Nonsense_Mutation_p.Q85*|PSME3_ENST00000545225.1_Nonsense_Mutation_p.Q80*|PSME3_ENST00000441946.2_Nonsense_Mutation_p.Q152*|PSME3_ENST00000541124.1_3'UTR	p.Q154*	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	7	621	+		Breast(137;0.000143)	141					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Nonsense_Mutation	SNP	ENST00000590720.1	37	c.460C>T	CCDS45689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.441427|6.441427	0.97568|0.97568	.|.	.|.	ENSG00000131467|ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946|ENST00000543428	.|T	.|0.39406	.|1.08	5.65|5.65	4.68|4.68	0.58851|0.58851	.|.	0.107289|.	0.64402|.	D|.	0.000003|.	.|T	.|0.49949	.|0.1587	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42498	.|-0.9448	.|6	0.34782|0.28530	T|T	0.22|0.3	-3.6003|-3.6003	14.6852|14.6852	0.69044|0.69044	0.0:0.9312:0.0:0.0688|0.0:0.9312:0.0:0.0688	.|.	.|.	.|.	.|.	X|I	80;154;141|103	.|ENSP00000437924:T103I	ENSP00000293362:Q154X|ENSP00000437924:T103I	Q|T	+|+	1|2	0|0	PSME3|PSME3	38244289|38244289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.418000|7.418000	0.80167|0.80167	1.635000|1.635000	0.50512|0.50512	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.463	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		29	51	0	0	0	1	0	29	51					T	40990763	C	T	40990763	4	4	381	1	0	0	0	0	0	1	0	0	12708	479	17	2	486	2	PSME3	17	40990763	Nonsense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		40990763	40204447	22	34628											
AXIN2	8313	broad.mit.edu	37	chr17	63533498	63533498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggcttttgcatttcgaGtagcagtaatactcgctgcc	11	9	0	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:63533498G>A	ENST00000375702.5	-	5	1764	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y	AXIN2_ENST00000307078.5_Silent_p.Y552Y			Q9Y2T1	AXIN2_HUMAN	axin 2	552					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						TGCATTTCGAGTAGCAGTAAT	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				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						c.(1654-1656)taC>taT		axin 2							123	114	117					17																	63533498		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533498G>A	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.1656C>T	17.37:g.63533498G>A						AXIN2_ENST00000375702.5_Silent_p.Y552Y	p.Y552Y	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			6	1969	-			552					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.1656C>T																																																																																					0.627	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		4	138	0	0	0	1	0	4	138					A	63533498	G	A	63533498	2	1	381	1	0	0	0	0	0	0	0	1	1237	1024	36	2		2	AXIN2	17	63533498	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	22542735	63533498	17661712	23	34629											
UNC13D	201294	broad.mit.edu	37	chr17	73826535	73826535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggccttgactgtcacaGcccccagctcctcagaggtg	12	14	2	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:73826535G>A	ENST00000207549.4	-	29	3117	c.2738C>T	c.(2737-2739)gCt>gTt	p.A913V	UNC13D_ENST00000412096.2_Missense_Mutation_p.A913V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	913	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACTGTCACAGCCCCCAGCTC	0.682									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2737-2739)gCt>gTt		unc-13 homolog D (C. elegans)							33	34	34					17																	73826535		2189	4296	6485	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73826535G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2738C>T	17.37:g.73826535G>A	ENSP00000207549:p.Ala913Val		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1148	UNC13D_ENST00000412096.2_Missense_Mutation_p.A913V	p.A913V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		29	3117	-			913			C2 2.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.2738C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333107	0.41297	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	T;T	0.78481	-1.18;-1.18	4.71	3.71	0.42584	C2 calcium/lipid-binding domain, CaLB (1);	0.143577	0.46442	N	0.000296	T	0.66703	0.2816	L	0.38953	1.18	0.80722	D	1	B	0.12013	0.005	B	0.15870	0.014	T	0.60326	-0.7285	10	0.29301	T	0.29	-0.2295	11.0361	0.47802	0.0968:0.0:0.9031:0.0	.	913	Q70J99	UN13D_HUMAN	V	913	ENSP00000207549:A913V;ENSP00000388093:A913V	ENSP00000207549:A913V	A	-	2	0	UNC13D	71338130	1.000000	0.71417	0.462000	0.27118	0.511000	0.34104	5.132000	0.64758	1.105000	0.41606	0.462000	0.41574	GCT		0.682	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		5	10	0	0	0	1	0	5	10					A	73826535	G	A	73826535	3	1	381	1	0	0	0	0	1	0	0	0	16984	971	34	2	550	2	UNC13D	17	73826535	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	10293037	73826535	7368675	24	34630											
ANKRD30B	374860	broad.mit.edu	37	chr18	14843023	14843023	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcttccaaacccgtttagCctgccactgaaatgcaaaac	5	13	1	1	rs180690700		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr18:14843023C>G	ENST00000358984.4	+	33	2932	c.2752C>G	c.(2752-2754)Cct>Gct	p.P918A		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	918										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCGTTTAGCCTGCCACTGA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.e33-1		ankyrin repeat domain 30B							15	14	14					18																	14843023		689	1567	2256	SO:0001630	splice_region_variant	374860							g.chr18:14843023C>G	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.2752-1C>G	18.37:g.14843023C>G							p.P918_splice	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			33	2932	+			1003					B4DGP1|F8WAG3|Q4G175	Splice_Site	SNP	ENST00000358984.4	37	c.2751_splice	CCDS54182.1	14	0.00641025641025641	0	0.0	4	0.011049723756906077	0	0.0	10	0.013192612137203167	c	9.262	1.043562	0.19748	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.08458	3.09	2.31	1.41	0.22369	.	.	.	.	.	T	0.09642	0.0237	L	0.32530	0.975	0.09310	N	1	D;P	0.63880	0.993;0.877	D;P	0.68192	0.956;0.728	T	0.18745	-1.0327	8	.	.	.	.	4.9234	0.13882	0.0:0.8119:0.0:0.1881	.	1003;918	Q9BXX2;F8WAG3	AN30B_HUMAN;.	A	918;312;338	ENSP00000351875:P918A	.	P	+	1	0	ANKRD30B	14833023	0.021000	0.18746	0.038000	0.18304	0.005000	0.04900	-0.426000	0.07008	0.308000	0.22923	0.453000	0.30009	CCT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	Missense_Mutation	3	9	0	0	0	1	0	3	9					G	14843023	C	G	14843023	5	3	381	1	0	0	0	0	0	0	1	0	659	753	26	4	2882	4	ANKRD30B	18	14843023	Splice_Site	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		14843023	63234225	25	34631											
CELF5	60680	broad.mit.edu	37	chr19	3251064	3251064	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgagcagaagaccttgcccgGagtgagtcctgtgtggtgtc	15	10	0	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:3251064G>T	ENST00000292672.2	+	2	378	c.341G>T	c.(340-342)gGa>gTa	p.G114V	CELF5_ENST00000541430.2_Splice_Site_p.G114V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	114	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCTTGCCCGGAGTGAGTCCT	0.602																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.e2+1		CUGBP, Elav-like family member 5							80	68	72					19																	3251064		2203	4300	6503	SO:0001630	splice_region_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3251064G>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.342+1G>T	19.37:g.3251064G>T						CELF5_ENST00000292672.2_Splice_Site_p.G114_splice	p.G114_splice	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			2	377	+			114			RRM 1.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Splice_Site	SNP	ENST00000292672.2	37	c.342_splice	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.654022	0.47362	.	.	ENSG00000161082	ENST00000292672;ENST00000541430	T;T	0.56103	0.48;1.33	2.81	2.81	0.32909	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	U	0.000000	T	0.74030	0.3663	M	0.91249	3.19	0.80722	D	1	D;D	0.71674	0.998;0.989	D;P	0.66497	0.944;0.805	T	0.80630	-0.1297	10	0.87932	D	0	.	11.7992	0.52118	0.0:0.0:1.0:0.0	.	114;114	Q8N6W0-2;Q8N6W0	.;CELF5_HUMAN	V	114	ENSP00000292672:G114V;ENSP00000443498:G114V	ENSP00000292672:G114V	G	+	2	0	CELF5	3202064	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	8.600000	0.90860	1.894000	0.54839	0.416000	0.27883	GGA		0.602	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938	Missense_Mutation	4	81	1	0	0.00909568	1	0.0092378	4	81					T	3251064	G	T	3251064	5	4	381	1	0	0	0	0	0	0	1	0	3219	1188	41	4	347	4	CELF5	19	3251064	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		3251064	55877919	26	34632											
EBI3	10148	broad.mit.edu	37	chr19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcctcagggctgtgCggccccgagccaggtactac	11	16	2	0	rs182560914		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14648	0.0		0.001	False		,,,				2504	0.0					ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(580-582)Cgg>Tgg		Epstein-Barr virus induced 3							58	57	57					19																	4236975		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4236975C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.580C>T	19.37:g.4236975C>T	ENSP00000221847:p.Arg194Trp						p.R194W	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	+		Hepatocellular(1079;0.137)	194			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.580C>T	CCDS12123.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.49	1.954193	0.34471	.	.	ENSG00000105246	ENST00000221847	T	0.59502	0.26	5.41	-0.774	0.10991	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.861076	0.10217	N	0.701413	T	0.47544	0.1451	L	0.54323	1.7	0.09310	N	1	B	0.26147	0.143	B	0.20577	0.03	T	0.36939	-0.9727	10	0.40728	T	0.16	-21.3836	7.7652	0.28976	0.4553:0.4575:0.0:0.0872	.	194	Q14213	IL27B_HUMAN	W	194	ENSP00000221847:R194W	ENSP00000221847:R194W	R	+	1	2	EBI3	4187975	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.061000	0.11693	-0.095000	0.12351	0.650000	0.86243	CGG		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			4	120	0	0	0	1	0	4	120					T	4236975	C	T	4236975	3	4	381	1	0	0	0	0	1	0	0	0	4883	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	985911	4236975	54892008	27	34633											
CNTD2	79935	broad.mit.edu	37	chr19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatacctacgtgcacctggAccagccagtctaccaccagg	9	15	1	1	rs199816045		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:40730639A>C	ENST00000430325.2	-	2	395	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	116	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697																																						ENST00000430325.2																			0				lung(1)|prostate(1)	2						c.(346-348)gTc>gGc		cyclin N-terminal domain containing 2							22	37	32					19																	40730639		692	1591	2283	SO:0001583	missense	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730639A>C	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.347T>G	19.37:g.40730639A>C	ENSP00000396755:p.Val116Gly					CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	p.V116G	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN			2	395	-			116					B4DX65	Missense_Mutation	SNP	ENST00000430325.2	37	c.347T>G	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732544	0.48939	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.13538	2.58;2.58	5.57	5.57	0.84162	.	.	.	.	.	T	0.22551	0.0544	M	0.70787	2.145	0.80722	D	1	B	0.32128	0.357	B	0.38225	0.268	T	0.01940	-1.1243	9	0.87932	D	0	.	13.2323	0.59951	1.0:0.0:0.0:0.0	.	116	B4DX65	.	G	116;10	ENSP00000396755:V116G;ENSP00000425529:V10G	ENSP00000396755:V116G	V	-	2	0	CNTD2	45422479	0.993000	0.37304	0.973000	0.42090	0.579000	0.36224	5.473000	0.66774	2.107000	0.64212	0.459000	0.35465	GTC		0.697	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		4	17	0	0	0	1	0	4	17					C	40730639	A	C	40730639	3	2	381	1	0	0	0	0	1	0	0	0	3636	275	10	5	592	5	CNTD2	19	40730639	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	36493664	40730639	18398344	28	34634											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	14	8	1	5			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:42799059C>T	ENST00000575354.2	+	20	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000572681.2_Missense_Mutation_p.R2421C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					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)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7261-7263)Cgc>Tgc		capicua transcriptional repressor							47	47	47					19																	42799059		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799059C>T	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.4543C>T	19.37:g.42799059C>T	ENSP00000458663:p.Arg1515Cys					CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C	p.R2421C			Q96RK0	CIC_HUMAN			21	7329	+		Prostate(69;0.00682)	1515					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7261C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159893	0.57368	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	2.33	0.28932	.	.	.	.	.	T	0.52901	0.1763	L	0.29908	0.895	0.51233	D	0.999917	D	0.89917	1.0	D	0.76575	0.988	T	0.55811	-0.8082	8	0.87932	D	0	-10.1007	2.833	0.05506	0.1907:0.5252:0.184:0.1001	.	1515	Q96RK0	CIC_HUMAN	C	1515	.	ENSP00000160740:R1515C	R	+	1	0	CIC	47490899	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	2.109000	0.41863	1.232000	0.43678	0.491000	0.48974	CGC		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			22	50	0	0	0	1	0	22	50					T	42799059	C	T	42799059	3	4	381	1	0	0	0	0	1	0	0	0	3424	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2068420	42799059	16329924	29	34635											
ZNF285	26974	broad.mit.edu	37	chr19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcttcttgaaggttcaCgatataatcctgactcacag	6	11	4	2	rs140033872		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					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(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				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						c.(274-276)Gtg>Atg		zinc finger protein 285							89	89	89					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	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.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|CTC-512J12.6_ENST00000588212.1_Intron	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		4	69	0	0	0	1	0	4	69					T	44892133	C	T	44892133	3	4	381	1	0	0	0	0	1	0	0	0	17819	536	19	1	1502	1	ZNF285	19	44892133	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2093074	44892133	14236850	30	34636											
CD40	958	broad.mit.edu	37	chr20	44751286	44751286	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaagggcacctcagaAacagacaccatctgcacctg	9	14	2	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr20:44751286A>G	ENST00000372285.3	+	4	366	c.294A>G	c.(292-294)gaA>gaG	p.E98E	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.E98E	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	98					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				GCACCTCAGAAACAGACACCA	0.607									Immune Deficiency with Hyper-IgM																													ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(292-294)gaA>gaG		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						115	101	106					20																	44751286		2203	4300	6503	SO:0001819	synonymous_variant	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44751286A>G	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.294A>G	20.37:g.44751286A>G						CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.E98E	p.E98E	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			4	366	+		Myeloproliferative disorder(115;0.0122)	98					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Silent	SNP	ENST00000372285.3	37	c.294A>G	CCDS13393.1																																																																																				0.607	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		38	81	0	0	0	1	0	38	81					G	44751286	A	G	44751286	2	3	381	1	0	0	0	0	0	0	0	1	3015	11	1	3		3	CD40	20	44751286	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		44751286	18274234	31	34637											
XG	7499	broad.mit.edu	37	chrX	2670333	2670333	+	Frame_Shift_Del	DEL	A	A	-													accatggagagctggtggggActtccctgtcttgcgttcct							TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:2670333delA	ENST00000381174.5	+	1	243	c.18delA	c.(16-18)ggafs	p.G6fs	XG_ENST00000419513.2_Frame_Shift_Del_p.G6fs|XG_ENST00000426774.1_Frame_Shift_Del_p.G6fs			P55808	XG_HUMAN	Xg blood group	6						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				GCTGGTGGGGACTTCCCTGTC	0.532																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(16-18)ggfs		Xg blood group							105	108	107					X																	2670333		2203	4293	6496	SO:0001589	frameshift_variant	7499					integral to membrane|plasma membrane		g.chrX:2670333delA	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.18delA	X.37:g.2670333delA	ENSP00000370566:p.Gly6fs					XG_ENST00000419513.2_Frame_Shift_Del_p.G6fs|XG_ENST00000381174.5_Frame_Shift_Del_p.G6fs	p.G6fs	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			1	241	+		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)	6					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Frame_Shift_Del	DEL	ENST00000381174.5	37	c.18delA	CCDS14120.1																																																																																				0.532	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		40	111						40	111	---	---	---	---	-	2670333	A	-	2670333	7	5	381	1	0	1	0	1	0	0	0	0	17424	262	10	0	20	0	XG	23	2670333	Frame_Shift_Del	DEL	A	TCGA-QH-A65V-01A-11D-A29Q-08		2670333	152600227	32	34638											
MID1IP1	58526	broad.mit.edu	37	chrX	38664318	38664318	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagcttgctgcgcgAcgtgcccctggctgaccccg	14	17	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:38664318A>T	ENST00000336949.6	+	2	1064	c.119A>T	c.(118-120)gAc>gTc	p.D40V	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D40V|MID1IP1_ENST00000378474.3_Missense_Mutation_p.D40V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	40					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TTGCTGCGCGACGTGCCCCTG	0.632																																						ENST00000336949.6																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(118-120)gAc>gTc		MID1 interacting protein 1							80	55	64					X																	38664318		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664318A>T		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.119A>T	X.37:g.38664318A>T	ENSP00000338706:p.Asp40Val					MID1IP1_ENST00000378474.3_Missense_Mutation_p.D40V|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D40V	p.D40V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	1064	+			40					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.119A>T	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157335	0.78114	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83894	0.0286	9	0.87932	D	0	-11.9323	13.3172	0.60413	1.0:0.0:0.0:0.0	.	40	Q9NPA3	M1IP1_HUMAN	V	40	.	ENSP00000338706:D40V	D	+	2	0	MID1IP1	38549262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.564000	0.90726	1.796000	0.52611	0.430000	0.28490	GAC		0.632	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			31	48	0	0	0	1	0	31	48					T	38664318	A	T	38664318	3	4	381	1	0	0	0	0	1	0	0	0	9577	275	10	5	121	5	MID1IP1	23	38664318	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	35993985	38664318	116606242	33	34639											
ARID1A	8289	broad.mit.edu	37	chr1	27057967	27057971	+	Frame_Shift_Del	DEL	CCTTA	CCTTA	-													cacagccacaggctcagtctCcttaccagcagcagcaacct							TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:27057967_27057971delCCTTA	ENST00000324856.7	+	3	2046_2050	c.1675_1679delCCTTA	c.(1675-1680)ccttacfs	p.PY559fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	559					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)		GGCTCAGTCTCCTTACCAGCAGCAG	0.634			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(1675-1680)cfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057967_27057971delCCTTA	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.1675_1679delCCTTA	1.37:g.27057967_27057971delCCTTA	ENSP00000320485:p.Pro559fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs	p.PY559fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	3	2046_2050	+		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)	559					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1675_1679delCCTTA	CCDS285.1																																																																																				0.634	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		95	51						95	51	---	---	---	---	-	27057971	CCTTA	-	27057967	7	5	382	1	0	1	0	1	0	0	0	0	913	855	30	0	1685	0	ARID1A	1	27057967	Frame_Shift_Del	DEL	CCTTA	TCGA-QH-A65X-01A-11D-A32B-08		27057967	222192654	1	34640											
RAVER2	55225	broad.mit.edu	37	chr1	65272951	65272951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggcatgttaccattctttCcaaatcagcacattgctgga	8	10	2	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:65272951C>A	ENST00000294428.3	+	9	1552	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	492						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATTCTTTCCAAATCAGCA	0.463																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1474-1476)Cca>Aca		ribonucleoprotein, PTB-binding 2							47	45	46					1																	65272951		1933	4150	6083	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65272951C>A	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1474C>A	1.37:g.65272951C>A	ENSP00000294428:p.Pro492Thr					RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T	p.P492T			Q9HCJ3	RAVR2_HUMAN			9	1552	+			492					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1474C>A		.	.	.	.	.	.	.	.	.	.	C	8.271	0.813295	0.16537	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.34667	1.38;1.35	5.21	2.27	0.28462	.	0.307850	0.32868	N	0.005551	T	0.14570	0.0352	L	0.48642	1.525	0.80722	D	1	B	0.23377	0.084	B	0.21917	0.037	T	0.05632	-1.0873	10	0.72032	D	0.01	-2.8121	7.2258	0.26014	0.0:0.7069:0.139:0.1541	.	479	Q9HCJ3-2	.	T	479;492	ENSP00000360112:P479T;ENSP00000294428:P492T	ENSP00000294428:P492T	P	+	1	0	RAVER2	65045539	0.680000	0.27605	0.955000	0.39395	0.221000	0.24807	0.235000	0.17948	0.196000	0.20367	-0.169000	0.13324	CCA		0.463	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		3	18	1	0	2.56e-06	1	2.62244e-06	3	18					A	65272951	C	A	65272951	3	1	382	1	0	0	0	0	1	0	0	0	13095	855	30	4	1469	4	RAVER2	1	65272951	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	38214984	65272951	183977670	2	34641											
AMY2B	280	broad.mit.edu	37	chr1	104120221	104120221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgtgaacatcgatggcGccaaataaggtgagaatatg	13	6	1	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:104120221G>A	ENST00000361355.4	+	10	1827	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	404					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)		CATCGATGGCGCCAAATAAGG	0.343																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1210-1212)cGc>cAc		amylase, alpha 2B (pancreatic)							108	115	112					1																	104120221		2202	4293	6495	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120221G>A	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.1211G>A	1.37:g.104120221G>A	ENSP00000354610:p.Arg404His					AMY2B_ENST00000491397.1_Intron	p.R404H	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	10	1827	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	404					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1211G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191398	0.58017	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.82	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.75264	2.295	0.80722	D	1	P	0.42456	0.78	B	0.25987	0.065	T	0.58907	-0.7553	9	0.87932	D	0	.	14.3878	0.66958	0.0:0.1488:0.8512:0.0	.	404	P19961	AMY2B_HUMAN	H	404	.	ENSP00000354610:R404H	R	+	2	0	AMY2B	103921744	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.384000	0.73177	2.206000	0.71126	0.453000	0.30009	CGC		0.343	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		4	111	0	0	0	1	0	4	111					A	104120221	G	A	104120221	3	1	382	1	0	0	0	0	1	0	0	0	595	1087	38	1	1241	1	AMY2B	1	104120221	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	38847270	104120221	145130400	3	34642											
DUSP27	92235	broad.mit.edu	37	chr1	167095078	167095078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcagcagtgctggtggTcgcctacctgatgatcttcc	12	13	2	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:167095078T>C	ENST00000361200.2	+	6	876	c.710T>C	c.(709-711)gTc>gCc	p.V237A	DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A|DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	237	Tyrosine-protein phosphatase.				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						GTGCTGGTGGTCGCCTACCTG	0.527																																						ENST00000361200.2																			0				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						c.(709-711)gTc>gCc		dual specificity phosphatase 27 (putative)							92	77	82					1																	167095078		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095078T>C	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.710T>C	1.37:g.167095078T>C	ENSP00000354483:p.Val237Ala					DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A|DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A	p.V237A			Q5VZP5	DUS27_HUMAN			6	876	+			237			Tyrosine-protein phosphatase.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.710T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	6.562	0.471968	0.12461	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.57436	0.4;0.4;0.4	5.55	-0.676	0.11361	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.391390	0.26328	N	0.025008	T	0.08223	0.0205	N	0.03930	-0.32	0.32658	N	0.518494	B	0.06786	0.001	B	0.12156	0.007	T	0.34428	-0.9829	10	0.06625	T	0.88	-15.8119	12.3376	0.55075	0.0:0.6025:0.0:0.3975	.	237	Q5VZP5	DUS27_HUMAN	A	237	ENSP00000354483:V237A;ENSP00000271385:V237A;ENSP00000404874:V237A	ENSP00000271385:V237A	V	+	2	0	DUSP27	165361702	0.968000	0.33430	0.047000	0.18901	0.903000	0.53119	2.167000	0.42415	-0.386000	0.07821	0.523000	0.50628	GTC		0.527	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		4	26	0	0	0	1	0	4	26					C	167095078	T	C	167095078	3	2	382	1	0	0	0	0	1	0	0	0	4824	1667	58	3	728	3	DUSP27	1	167095078	Missense_Mutation	SNP	T	TCGA-QH-A65X-01A-11D-A32B-08	62974857	167095078	82155543	4	34643											
DNMT3A	1788	broad.mit.edu	37	chr2	25497832	25497832	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttttccagcgtgccagcCactcgtcccgcttgcgcttg	9	18	0	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:25497832C>T	ENST00000264709.3	-	6	954	c.617G>A	c.(616-618)tGg>tAg	p.W206*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	206	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)					GCGTGCCAGCCACTCGTCCCG	0.657			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(616-618)tGg>tAg		DNA (cytosine-5-)-methyltransferase 3 alpha							46	45	45					2																	25497832		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497832C>T		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.617G>A	2.37:g.25497832C>T	ENSP00000264709:p.Trp206*					DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			6	954	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.617G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.487739	0.98316	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-7.0978	16.2234	0.82274	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000264709:W206X	W	-	2	0	DNMT3A	25351336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.185000	0.50934	2.428000	0.82296	0.561000	0.74099	TGG		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		16	13	0	0	0	1	0	16	13					T	25497832	C	T	25497832	4	4	382	1	0	0	0	0	0	1	0	0	4676	595	21	2	2273	2	DNMT3A	2	25497832	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		25497832	217701541	5	34644											
RTN4	57142	broad.mit.edu	37	chr2	55253414	55253416	+	In_Frame_Del	DEL	AGG	AGG	-													atgtcaggcaaaactggtgaAggagtagcttctgactcttc					rs201245422		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:55253414_55253416delAGG	ENST00000337526.6	-	3	2062_2064	c.1819_1821delCCT	c.(1819-1821)cctdel	p.P607del	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	607					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAACTGGTGAAGGAGTAGCTTCT	0.443																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1819-1821)del		reticulon 4																																				SO:0001651	inframe_deletion	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253414_55253416delAGG	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1819_1821delCCT	2.37:g.55253414_55253416delAGG	ENSP00000337838:p.Pro607del					RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron	p.P607del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2062_2064	-			607					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	In_Frame_Del	DEL	ENST00000337526.6	37	c.1819_1821delCCT	CCDS42684.1																																																																																				0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			33	45						33	45	---	---	---	---	-	55253416	AGG	-	55253414	7	5	382	1	0	1	0	1	0	0	0	0	13728	59	3	0	1823	0	RTN4	2	55253414	In_Frame_Del	DEL	AGG	TCGA-QH-A65X-01A-11D-A32B-08	29755582	55253414	187945959	6	34645											
SFXN5	94097	broad.mit.edu	37	chr2	73188272	73188272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgacctctgacatttgCgggaagaggctgatggccag	13	11	1	4			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:73188272C>T	ENST00000272433.2	-	13	1063	c.933G>A	c.(931-933)ccG>ccA	p.P311P	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.R244H	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	311					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTGACATTTGCGGGAAGAGGC	0.637																																						ENST00000410065.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(730-732)cGc>cAc		sideroflexin 5							17	19	19					2																	73188272		2198	4292	6490	SO:0001819	synonymous_variant	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73188272C>T	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.933G>A	2.37:g.73188272C>T						SFXN5_ENST00000272433.2_Silent_p.P311P|SFXN5_ENST00000474528.1_5'UTR	p.R244H			Q8TD22	SFXN5_HUMAN			11	749	-			0					A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	c.731G>A	CCDS1922.1	.	.	.	.	.	.	.	.	.	.	C	6.131	0.392412	0.11638	.	.	ENSG00000144040	ENST00000410065	T	0.53206	0.63	5.47	-10.3	0.00346	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	8	0.87932	D	0	-17.3628	9.1961	0.37228	0.0723:0.6114:0.1456:0.1707	.	244	B8ZZJ6	.	H	244	ENSP00000387076:R244H	ENSP00000387076:R244H	R	-	2	0	SFXN5	73041780	0.000000	0.05858	0.125000	0.21846	0.861000	0.49209	-3.065000	0.00621	-3.128000	0.00237	-1.936000	0.00505	CGC		0.637	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		3	14	0	0	0	1	0	3	14					T	73188272	C	T	73188272	2	4	382	1	0	0	0	0	0	0	0	1	14198	755	27	1		1	SFXN5	2	73188272	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	17934858	73188272	170011101	7	34646											
SLC9A2	6549	broad.mit.edu	37	chr2	103274268	103274268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtggtagggacacttTggaattccattggcattggg	14	6	0	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:103274268T>C	ENST00000233969.2	+	2	677	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	179					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGGACACTTTGGAATTCCAT	0.517																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(535-537)Tgg>Cgg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							322	303	310					2																	103274268		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274268T>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.535T>C	2.37:g.103274268T>C	ENSP00000233969:p.Trp179Arg						p.W179R	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			2	677	+			179					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.535T>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390024	0.82902	.	.	ENSG00000115616	ENST00000233969	T	0.15603	2.41	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58451	-0.7634	10	0.72032	D	0.01	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	179	Q9UBY0	SL9A2_HUMAN	R	179	ENSP00000233969:W179R	ENSP00000233969:W179R	W	+	1	0	SLC9A2	102640700	1.000000	0.71417	0.934000	0.37439	0.969000	0.65631	8.033000	0.88852	2.265000	0.75225	0.533000	0.62120	TGG		0.517	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			6	201	0	0	0	1	0	6	201					C	103274268	T	C	103274268	3	2	382	1	0	0	0	0	1	0	0	0	14712	1812	63	3	541	3	SLC9A2	2	103274268	Missense_Mutation	SNP	T	TCGA-QH-A65X-01A-11D-A32B-08	30085996	103274268	139925105	8	34647											
CXCR1	3577	broad.mit.edu	37	chr2	219029665	219029665	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcggcccagatgggcaaggtCagggcaaagagtaggtcggc	18	9	1	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:219029665C>T	ENST00000295683.2	-	2	390	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	90					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TGGGCAAGGTCAGGGCAAAGA	0.557																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(268-270)ctG>ctA		chemokine (C-X-C motif) receptor 1							112	109	110					2																	219029665		2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029665C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.270G>A	2.37:g.219029665C>T							p.L90L	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	390	-			90					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.270G>A	CCDS2409.1																																																																																				0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		4	73	0	0	0	1	0	4	73					T	219029665	C	T	219029665	2	4	382	1	0	0	0	0	0	0	0	1	4090	813	29	2		2	CXCR1	2	219029665	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	115755397	219029665	24169708	9	34648											
MED12L	116931	broad.mit.edu	37	chr3	151129236	151129236	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacagattcagcagcagccGagtggctatgttcagcagca	12	10	2	2	rs200135596		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr3:151129236G>A	ENST00000474524.1	+	39	6014	c.5976G>A	c.(5974-5976)ccG>ccA	p.P1992P	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1992	Gln-rich.					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)			AGCAGCAGCCGAGTGGCTATG	0.542																																						ENST00000474524.1																			0				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						c.(5974-5976)ccG>ccA		mediator complex subunit 12-like							83	83	83					3																	151129236		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129236G>A	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.5976G>A	3.37:g.151129236G>A						MED12L_ENST00000273432.4_Intron	p.P1992P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	6014	+			1992			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5976G>A	CCDS33876.1																																																																																				0.542	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		29	54	0	0	0	1	0	29	54					A	151129236	G	A	151129236	2	1	382	1	0	0	0	0	0	0	0	1	9429	1045	37	1		1	MED12L	3	151129236	Silent	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		151129236	46893194	10	34649											
ARSK	153642	broad.mit.edu	37	chr5	94927146	94927146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaattagatcttcttcagAaaactattgtcatatactcc	3	9	5	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr5:94927146A>G	ENST00000380009.4	+	6	1118	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	305					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)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTCTTCAGAAAACTATTGT	0.368																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(913-915)Aaa>Gaa		arylsulfatase family, member K							122	129	126					5																	94927146		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94927146A>G		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.913A>G	5.37:g.94927146A>G	ENSP00000369346:p.Lys305Glu						p.K305E	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1118	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	305					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.913A>G	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728680	0.30593	.	.	ENSG00000164291	ENST00000380009	D	0.99887	-7.53	5.74	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.232106	0.50627	N	0.000102	D	0.99336	0.9767	L	0.39147	1.195	0.80722	D	1	B	0.13594	0.008	B	0.20955	0.032	D	0.99970	1.1987	10	0.45353	T	0.12	-6.5041	11.5279	0.50591	0.9304:0.0:0.0696:0.0	.	305	Q6UWY0	ARSK_HUMAN	E	305	ENSP00000369346:K305E	ENSP00000369346:K305E	K	+	1	0	ARSK	94952902	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.245000	0.58734	1.019000	0.39547	0.533000	0.62120	AAA		0.368	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		9	74	0	0	0	1	0	9	74					G	94927146	A	G	94927146	3	3	382	1	0	0	0	0	1	0	0	0	996	247	9	3	935	3	ARSK	5	94927146	Missense_Mutation	SNP	A	TCGA-QH-A65X-01A-11D-A32B-08		94927146	85988114	11	34650											
COL12A1	1303	broad.mit.edu	37	chr6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggatacagagaggataCggtgatagtgtaaggagtgt	15	3	1	2	rs201408175		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						AGAGAGGATACGGTGATAGTG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15140	0.0		0.0	False		,,,				2504	0.0					ENST00000322507.8																			0				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						c.(5467-5469)Gta>Ata		collagen, type XII, alpha 1		C	ILE/VAL,ILE/VAL	0,3924		0,0,1962	134	136	135		5467,1975	5	0.9	6		135	3,8305		0,3,4151	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	29,29	0,3,6113	TT,TC,CC		0.0361,0.0,0.0245	possibly-damaging,possibly-damaging	1823/3064,659/1900	75844499	3,12229	1962	4154	6116	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844499C>T	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.5467G>A	6.37:g.75844499C>T	ENSP00000325146:p.Val1823Ile					COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I	p.V1823I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5776	-			1823			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5467G>A	CCDS43482.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.7|23.7	4.444654|4.444654	0.83993|0.83993	0.0|0.0	3.61E-4|3.61E-4	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51	5.87|5.87	5.0|5.0	0.66597|0.66597	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.73410|0.73410	0.3583|0.3583	L|L	0.52905|0.52905	1.665|1.665	0.42919|0.42919	D|D	0.994285|0.994285	.|D;D	.|0.76494	.|0.997;0.999	.|P;P	.|0.60541	.|0.779;0.876	T|T	0.76033|0.76033	-0.3107|-0.3107	5|10	.|0.49607	.|T	.|0.09	.|.	17.0718|17.0718	0.86576|0.86576	0.0:0.873:0.127:0.0|0.0:0.873:0.127:0.0	.|.	.|659;1823	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	H|I	557|1823;1823;659;1823;1823	.|ENSP00000325146:V1823I;ENSP00000305147:V659I;ENSP00000412864:V1823I;ENSP00000421216:V1823I	.|ENSP00000325146:V1823I	R|V	-|-	2|1	0|0	COL12A1|COL12A1	75901219|75901219	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.551000|0.551000	0.35334|0.35334	7.294000|7.294000	0.78760|0.78760	1.472000|1.472000	0.48140|0.48140	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		28	30	0	0	0	1	0	28	30					T	75844499	C	T	75844499	3	4	382	1	0	0	0	0	1	0	0	0	3669	536	19	1	3864	1	COL12A1	6	75844499	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		75844499	95270568	12	34651											
SYNE1	23345	broad.mit.edu	37	chr6	152652511	152652511	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcccactaagtcactgaGacaattcacgtggctttgtg	10	11	2	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:152652511G>A	ENST00000367255.5	-	78	13910	c.13309C>T	c.(13309-13311)Ctc>Ttc	p.L4437F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4437					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)		AAGTCACTGAGACAATTCACG	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(13309-13311)Ctc>Ttc		spectrin repeat containing, nuclear envelope 1							100	92	95					6																	152652511		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652511G>A	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.13309C>T	6.37:g.152652511G>A	ENSP00000356224:p.Leu4437Phe	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F	p.L4437F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13910	-		Ovarian(120;0.0955)	4437					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13309C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568582	0.45798	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000042	T	0.71492	0.3346	M	0.66939	2.045	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;0.998;0.999	T	0.68375	-0.5425	10	0.44086	T	0.13	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	4437;4437;4437;4366	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	4437;4366;4437;4366;4302	ENSP00000356224:L4437F;ENSP00000396024:L4366F;ENSP00000265368:L4437F;ENSP00000390975:L4366F;ENSP00000341887:L4302F	ENSP00000265368:L4437F	L	-	1	0	SYNE1	152694204	1.000000	0.71417	0.970000	0.41538	0.963000	0.63663	4.513000	0.60476	2.760000	0.94817	0.655000	0.94253	CTC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	34	0	0	0	1	0	17	34					A	152652511	G	A	152652511	3	1	382	1	0	0	0	0	1	0	0	0	15442	942	33	2	13433	2	SYNE1	6	152652511	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	76808012	152652511	18462556	13	34652											
NUDT18	79873	broad.mit.edu	37	chr8	21965771	21965771	+	Frame_Shift_Del	DEL	G	G	-													cgctgcagcgcctccacgatGgtctcccctggctccattct					rs533078716		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr8:21965771delG	ENST00000309188.6	-	4	367	c.249delC	c.(247-249)accfs	p.T83fs	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	83	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CCTCCACGATGGTCTCCCCTG	0.677																																						ENST00000309188.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(247-249)acfs		nudix (nucleoside diphosphate linked moiety X)-type motif 18							30	38	35					8																	21965771		2137	4220	6357	SO:0001589	frameshift_variant	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965771delG		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"Nudix motif containing"	26194	protein-coding gene	gene with protein product	"mutT human homolog 3"	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.249delC	8.37:g.21965771delG	ENSP00000307852:p.Thr83fs					NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs	p.T83fs	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	4	367	-			83			Nudix hydrolase.		Q8IZ75|Q9H687	Frame_Shift_Del	DEL	ENST00000309188.6	37	c.249delC																																																																																					0.677	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		2	4						2	4	---	---	---	---	-	21965771	G	-	21965771	7	5	382	1	0	1	0	1	0	0	0	0	10735	1335	47	0	730	0	NUDT18	8	21965771	Frame_Shift_Del	DEL	G	TCGA-QH-A65X-01A-11D-A32B-08		21965771	124398251	14	34653											
PTPRD	5789	broad.mit.edu	37	chr9	8518239	8518242	+	Frame_Shift_Del	DEL	ACTT	ACTT	-													aattcataatccgagtagggActtagtccagcgacactgta							TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr9:8518239_8518242delACTT	ENST00000381196.4	-	18	1692_1695	c.1149_1152delAAGT	c.(1147-1152)ctaagtfs	p.LS383fs	PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	383	Fibronectin type-III 1. {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)		CCGAGTAGGGACTTAGTCCAGCGA	0.461										TSP Lung(15;0.13)																												ENST00000381196.4																			0				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						c.(1147-1152)ctfs		protein tyrosine phosphatase, receptor type, D																																				SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518239_8518242delACTT	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.1149_1152delAAGT	9.37:g.8518239_8518242delACTT	ENSP00000370593:p.Leu383fs	TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs	p.LS383fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		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)	18	1692_1695	-		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)	383			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.1149_1152delAAGT	CCDS43786.1																																																																																				0.461	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			68	95						68	95	---	---	---	---	-	8518242	ACTT	-	8518239	7	5	382	1	0	1	0	1	0	0	0	0	12799	272	10	0	4758	0	PTPRD	9	8518239	Frame_Shift_Del	DEL	ACTT	TCGA-QH-A65X-01A-11D-A32B-08		8518239	132695192	15	34654											
ENTPD1	953	broad.mit.edu	37	chr10	97605324	97605325	+	Frame_Shift_Del	DEL	CT	CT	-													gctatgggaaggatcaggcaCtctggcagaaactggccaag					rs140773352		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr10:97605324_97605325delCT	ENST00000371205.4	+	6	1067_1068	c.784_785delCT	c.(784-786)ctcfs	p.L262fs	ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Frame_Shift_Del_p.L124fs|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs|ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	262					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATCAGGCACTCTGGCAGAAA	0.5																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(370-372)cfs		ectonucleoside triphosphate diphosphohydrolase 1																																				SO:0001589	frameshift_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97605324_97605325delCT	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.784_785delCT	10.37:g.97605326_97605327delCT	ENSP00000360248:p.Leu262fs					ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs|ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371205.4_Frame_Shift_Del_p.L262fs|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs	p.L124fs	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	5	957_958	+		Colorectal(252;0.0821)	262					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Frame_Shift_Del	DEL	ENST00000371205.4	37	c.370_371delCT	CCDS7444.1																																																																																				0.5	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		18	58						18	58	---	---	---	---	-	97605325	CT	-	97605324	7	5	382	1	0	1	0	1	0	0	0	0	5138	565	20	0	903	0	ENTPD1	10	97605324	Frame_Shift_Del	DEL	CT	TCGA-QH-A65X-01A-11D-A32B-08		97605324	37929423	16	34655											
ANO9	338440	broad.mit.edu	37	chr11	429619	429619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaggaccacgcgggcgCgctgccgcttccagatctcc	13	16	1	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|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)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(865-867)cGc>cAc		anoctamin 9							38	36	36					11																	429619		2196	4285	6481	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:429619C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.866G>A	11.37:g.429619C>T	ENSP00000332788:p.Arg289His						p.R289H	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			11	950	-			289					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.866G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653598	0.67472	.	.	ENSG00000185101	ENST00000332826	T	0.63580	-0.05	4.29	2.37	0.29283	.	0.079666	0.48767	D	0.000164	T	0.70988	0.3287	M	0.62266	1.93	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.60939	-0.7163	10	0.62326	D	0.03	.	9.6829	0.40080	0.0:0.828:0.0:0.172	.	289	A1A5B4	ANO9_HUMAN	H	289	ENSP00000332788:R289H	ENSP00000332788:R289H	R	-	2	0	ANO9	419619	0.974000	0.33945	0.634000	0.29324	0.448000	0.32197	2.962000	0.49176	0.935000	0.37341	0.550000	0.68814	CGC		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		18	55	0	0	0	1	0	18	55					T	429619	C	T	429619	3	4	382	1	0	0	0	0	1	0	0	0	704	768	27	1	1534	1	ANO9	11	429619	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		429619	134576897	17	34656											
SYT1	6857	broad.mit.edu	37	chr12	79837981	79837981	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtaccttttgaacaaAtccaggtaatgtcaaacata	6	7	1	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr12:79837981A>G	ENST00000261205.4	+	10	1714	c.1057A>G	c.(1057-1059)Atc>Gtc	p.I353V	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|SYT1_ENST00000552744.1_Missense_Mutation_p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	353	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTTTGAACAAATCCAGGTAAT	0.358																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(1057-1059)Atc>Gtc		synaptotagmin I							172	158	163					12																	79837981		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79837981A>G		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.1057A>G	12.37:g.79837981A>G	ENSP00000261205:p.Ile353Val					SYT1_ENST00000552744.1_Missense_Mutation_p.I353V|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|RP1-78O14.1_ENST00000550268.1_lincRNA	p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			10	1714	+			353			C2 2.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.1057A>G	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170569	0.57584	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.17922	0.545	0.80722	D	1	B;B	0.27380	0.177;0.177	B;B	0.24541	0.054;0.054	T	0.55263	-0.8168	10	0.35671	T	0.21	.	15.9526	0.79855	1.0:0.0:0.0:0.0	.	353;353	Q6AI31;P21579	.;SYT1_HUMAN	V	353;353;350;353	ENSP00000376932:I353V;ENSP00000261205:I353V;ENSP00000391056:I350V;ENSP00000447575:I353V	ENSP00000261205:I353V	I	+	1	0	SYT1	78362112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.168000	0.68352	0.533000	0.62120	ATC		0.358	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		51	74	0	0	0	1	0	51	74					G	79837981	A	G	79837981	3	3	382	1	0	0	0	0	1	0	0	0	15462	101	4	3	1083	3	SYT1	12	79837981	Missense_Mutation	SNP	A	TCGA-QH-A65X-01A-11D-A32B-08		79837981	54013914	18	34657											
NUFIP1	26747	broad.mit.edu	37	chr13	45517620	45517620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttggttcgaataacGtttgatagttgtgataatct	10	4	2	2	rs115794259	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr13:45517620G>A	ENST00000379161.4	-	9	1374	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	443					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCGAATAACGTTTGATAGTT	0.333													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18381	0.0		0.0	False		,,,				2504	0.0					ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1327-1329)aCg>aTg		nuclear fragile X mental retardation protein interacting protein 1		G	MET/THR	6,4400	11.4+/-27.6	0,6,2197	135	137	136		1328	3.2	0	13	dbSNP_132	136	0,8600		0,0,4300	yes	missense	NUFIP1	NM_012345.2	81	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	possibly-damaging	443/496	45517620	6,13000	2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45517620G>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1328C>T	13.37:g.45517620G>A	ENSP00000368459:p.Thr443Met						p.T443M	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	9	1374	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	443					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1328C>T	CCDS9393.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.05	1.821302	0.32237	0.001362	0.0	ENSG00000083635	ENST00000379161	T	0.46819	0.86	5.97	3.2	0.36748	.	0.613533	0.18290	N	0.145741	T	0.52789	0.1756	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.46289	-0.9202	10	0.46703	T	0.11	.	12.1177	0.53873	0.0:0.0:0.5475:0.4525	.	443	Q9UHK0	NUFP1_HUMAN	M	443	ENSP00000368459:T443M	ENSP00000368459:T443M	T	-	2	0	NUFIP1	44415620	0.511000	0.26179	0.014000	0.15608	0.580000	0.36256	2.227000	0.42972	0.376000	0.24707	0.537000	0.68136	ACG		0.333	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		25	80	0	0	0	1	0	25	80					A	45517620	G	A	45517620	3	1	382	1	0	0	0	0	1	0	0	0	10748	1145	40	1	167	1	NUFIP1	13	45517620	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		45517620	69652258	19	34658											
PACS2	23241	broad.mit.edu	37	chr14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-													gagacagacctggccctgacCttctccttgcaggtgagtct							TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105818792_105818794delCTT	ENST00000325438.8	+	3	789_791	c.285_287delCTT	c.(283-288)accttc>acc	p.F96del	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_In_Frame_Del_p.F96del|PACS2_ENST00000458164.2_In_Frame_Del_p.F96del|PACS2_ENST00000430725.2_In_Frame_Del_p.F29del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(283-288)acc>ac		phosphofurin acidic cluster sorting protein 2																																				SO:0001651	inframe_deletion	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818792_105818794delCTT	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.285_287delCTT	14.37:g.105818792_105818794delCTT	ENSP00000321834:p.Phe96del		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.TF28del|PACS2_ENST00000458164.2_In_Frame_Del_p.TF95del|PACS2_ENST00000325438.8_In_Frame_Del_p.TF95del	p.TF95del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	460_462	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	95					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	In_Frame_Del	DEL	ENST00000325438.8	37	c.285_287delCTT	CCDS32168.1																																																																																				0.606	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		53	70						53	70	---	---	---	---	-	105818794	CTT	-	105818792	7	5	382	1	0	1	0	1	0	0	0	0	11373	668	24	0	295	0	PACS2	14	105818792	In_Frame_Del	DEL	CTT	TCGA-QH-A65X-01A-11D-A32B-08		105818792	1530748	20	34659											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			21	32	0	0	0	1	0	21	32					T	90631838	C	T	90631838	3	4	382	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		90631838	11899554	21	34660											
KCTD5	54442	broad.mit.edu	37	chr16	2747985	2747985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaattagagaacgagacaGcaaaacatcgcaggtgagac	10	8	0	3			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:2747985G>A	ENST00000301738.4	+	3	514	c.440G>A	c.(439-441)aGc>aAc	p.S147N	KCTD5_ENST00000564195.1_Intron	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	147					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGACAGCAAAACATCG	0.438																																					Ovarian(56;981 1456 4301 50892)	ENST00000301738.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(439-441)aGc>aAc		potassium channel tetramerization domain containing 5							105	93	97					16																	2747985		2198	4300	6498	SO:0001583	missense	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2747985G>A	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"potassium channel tetramerisation domain containing 5"			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.440G>A	16.37:g.2747985G>A	ENSP00000301738:p.Ser147Asn					KCTD5_ENST00000564195.1_Intron	p.S147N	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN			3	514	+			147					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.440G>A	CCDS10475.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712010	0.30322	.	.	ENSG00000167977	ENST00000301738	T	0.43688	0.94	3.85	3.85	0.44370	BTB/POZ fold (2);	0.046281	0.85682	D	0.000000	T	0.23330	0.0564	N	0.12471	0.22	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06267	-1.0836	10	0.11794	T	0.64	-29.2083	13.6348	0.62217	0.0:0.0:1.0:0.0	.	147	Q9NXV2	KCTD5_HUMAN	N	147	ENSP00000301738:S147N	ENSP00000301738:S147N	S	+	2	0	KCTD5	2687986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.602000	0.67612	1.870000	0.54199	0.561000	0.74099	AGC		0.438	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		3	49	0	0	0	1	0	3	49					A	2747985	G	A	2747985	3	1	382	1	0	0	0	0	1	0	0	0	8112	971	34	2	450	2	KCTD5	16	2747985	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		2747985	87606768	22	34661											
MARVELD3	91862	broad.mit.edu	37	chr16	71668160	71668160	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagctctgtgtcttaCagttccacagggggctacac	11	13	2	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:71668160C>A	ENST00000268485.3	+	3	704	c.660C>A	c.(658-660)taC>taA	p.Y220*	MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	220	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGTGTCTTACAGTTCCACAG	0.532																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(658-660)taC>taA		MARVEL domain containing 3							88	90	89					16																	71668160		2198	4300	6498	SO:0001587	stop_gained	91862					integral to membrane		g.chr16:71668160C>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.660C>A	16.37:g.71668160C>A	ENSP00000268485:p.Tyr220*					MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	p.Y220*	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	704	+		Ovarian(137;0.125)	220			MARVEL.		A8K820|H3BQM5|Q96MJ4	Nonsense_Mutation	SNP	ENST00000268485.3	37	c.660C>A	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518671	0.85495	.	.	ENSG00000140832	ENST00000268485	.	.	.	5.91	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.26031	N	0.981744	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3652	0.66801	0.0:0.9294:0.0:0.0706	.	.	.	.	X	220	.	ENSP00000268485:Y220X	Y	+	3	2	MARVELD3	70225661	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	4.040000	0.57333	1.500000	0.48636	0.655000	0.94253	TAC		0.532	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		43	55	1	0	7.05121e-23	1	7.40377e-23	43	55					A	71668160	C	A	71668160	4	1	382	1	0	0	0	0	0	1	0	0	9319	489	17	4	670	4	MARVELD3	16	71668160	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	68920175	71668160	18686593	23	34662											
SERPINB3	6317	broad.mit.edu	37	chr18	61323094	61323094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaggactccagatagcaCgagaccgcggctcccggtca	13	13	1	2	rs542903928		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr18:61323094C>T	ENST00000283752.5	-	8	1113	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	324					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCAGATAGCACGAGACCGCGG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18460	0.0		0.0	False		,,,				2504	0.0					ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(970-972)Gtg>Atg		serpin peptidase inhibitor, clade B (ovalbumin), member 3							130	118	122					18																	61323094		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323094C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"Serine (or cysteine) peptidase inhibitors"	10569	protein-coding gene	gene with protein product		600517	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.970G>A	18.37:g.61323094C>T	ENSP00000283752:p.Val324Met					SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M	p.V324M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			8	1113	-			324					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.970G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	4.999	0.185522	0.09495	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.82893	-1.66;-1.66	2.91	-5.64	0.02466	Serpin domain (3);	5.454990	0.00357	N	0.000020	T	0.74726	0.3754	L	0.51422	1.61	0.09310	N	1	B;B	0.22003	0.063;0.018	B;B	0.27887	0.084;0.023	T	0.54814	-0.8237	10	0.36615	T	0.2	.	0.9508	0.01376	0.2201:0.3726:0.1474:0.26	.	272;324	P29508-2;P29508	.;SPB3_HUMAN	M	324;272	ENSP00000283752:V324M;ENSP00000329498:V272M	ENSP00000283752:V324M	V	-	1	0	SERPINB3	59474074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.554000	0.00006	-1.494000	0.01833	-1.849000	0.00571	GTG		0.547	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		33	35	0	0	0	1	0	33	35					T	61323094	C	T	61323094	3	4	382	1	0	0	0	0	1	0	0	0	14102	536	19	1	206	1	SERPINB3	18	61323094	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		61323094	16754154	24	34663											
GRIN3B	116444	broad.mit.edu	37	chr19	1005263	1005263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcggccctgcacctcaCcgcgctcttcctcaccgtgt	8	19	3	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:1005263C>T	ENST00000234389.3	+	3	1782	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	588					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGCACCTCACCGCGCTCTTC	0.662																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1762-1764)aCc>aTc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						70	63	65					19																	1005263		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005263C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1763C>T	19.37:g.1005263C>T	ENSP00000234389:p.Thr588Ile					GRIN3B_ENST00000588335.1_3'UTR	p.T588I	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		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)	3	1782	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	588					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1763C>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701299	0.48307	.	.	ENSG00000116032	ENST00000234389	T	0.53857	0.6	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.76574	2.34	0.43603	D	0.995965	D	0.89917	1.0	D	0.91635	0.999	T	0.74844	-0.3526	10	0.51188	T	0.08	.	15.8728	0.79136	0.0:1.0:0.0:0.0	.	588	O60391	NMD3B_HUMAN	I	588	ENSP00000234389:T588I	ENSP00000234389:T588I	T	+	2	0	GRIN3B	956263	0.999000	0.42202	0.995000	0.50966	0.145000	0.21501	3.973000	0.56845	2.100000	0.63781	0.485000	0.47835	ACC		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			22	25	0	0	0	1	0	22	25					T	1005263	C	T	1005263	3	4	382	1	0	0	0	0	1	0	0	0	6784	507	18	2	1773	2	GRIN3B	19	1005263	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		1005263	58123720	25	34664											
KIAA0892	23383	broad.mit.edu	37	chr19	19458135	19458135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcgtcaccaacctggCgagtgtgtatatacgggaag	11	10	2	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:19458135C>T	ENST00000392313.6	+	13	1447	c.1268C>T	c.(1267-1269)gCg>gTg	p.A423V	MAU2_ENST00000262815.8_Missense_Mutation_p.A423V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	423					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ACCAACCTGGCGAGTGTGTAT	0.537																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1267-1269)gCg>gTg		MAU2 sister chromatid cohesion factor							152	129	137					19																	19458135		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19458135C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1268C>T	19.37:g.19458135C>T	ENSP00000376127:p.Ala423Val					MAU2_ENST00000262815.8_Missense_Mutation_p.A423V	p.A423V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			13	1314	+			423					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1268C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	35	5.582767	0.96578	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.72615	-0.67;-0.67	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	T	0.78489	0.4291	L	0.52126	1.63	0.80722	D	1	D;D	0.71674	0.998;0.99	P;P	0.60345	0.873;0.81	T	0.79050	-0.1962	10	0.49607	T	0.09	.	17.2557	0.87056	0.0:1.0:0.0:0.0	.	29;423	Q9Y6X3-2;Q9Y6X3	.;SCC4_HUMAN	V	423	ENSP00000376127:A423V;ENSP00000262815:A423V	ENSP00000262815:A423V	A	+	2	0	MAU2	19319135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.520000	0.81821	2.422000	0.82143	0.655000	0.94253	GCG		0.537	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		17	33	0	0	0	1	0	17	33					T	19458135	C	T	19458135	3	4	382	1	0	0	0	0	1	0	0	0	8196	768	27	1	1318	1	KIAA0892	19	19458135	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	18452872	19458135	39670848	26	34665											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	13	8	2	5			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:42799051G>A	ENST00000575354.2	+	20	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000572681.2_Missense_Mutation_p.R2418H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					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)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7252-7254)cGt>cAt		capicua transcriptional repressor							51	51	51					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>A	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.4535G>A	19.37:g.42799051G>A	ENSP00000458663:p.Arg1512His					CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H	p.R2418H			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529376	0.85706	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.65037	0.2653	L	0.29908	0.895	0.47009	D	0.999284	D	0.76494	0.999	D	0.74674	0.984	T	0.68911	-0.5284	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	H	1512	.	ENSP00000160740:R1512H	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	11	0	0	0	1	0	32	11					A	42799051	G	A	42799051	3	1	382	1	0	0	0	0	1	0	0	0	3424	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	23340916	42799051	16329932	27	34666											
TFAP2C	7022	broad.mit.edu	37	chr20	55211767	55211767	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagacctcatcttggaggaCgaaatgagatggcagctagg	13	9	2	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr20:55211767C>T	ENST00000201031.2	+	6	1267	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	342	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)			TCTTGGAGGACGAAATGAGAT	0.443																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1024-1026)Cga>Tga		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							140	120	127					20																	55211767		2203	4300	6503	SO:0001587	stop_gained	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55211767C>T		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.1024C>T	20.37:g.55211767C>T	ENSP00000201031:p.Arg342*					TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	p.R342*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		6	1267	+			342			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Nonsense_Mutation	SNP	ENST00000201031.2	37	c.1024C>T	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	41	8.951849	0.99014	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	.	.	.	5.6	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-23.6278	9.7107	0.40243	0.2511:0.6831:0.0:0.0658	.	.	.	.	X	342;173	.	ENSP00000201031:R342X	R	+	1	2	TFAP2C	54645174	0.998000	0.40836	0.041000	0.18516	0.841000	0.47740	3.648000	0.54410	0.721000	0.32231	0.591000	0.81541	CGA		0.443	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		25	32	0	0	0	1	0	25	32					T	55211767	C	T	55211767	4	4	382	1	0	0	0	0	0	1	0	0	15786	528	19	1	1046	1	TFAP2C	20	55211767	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		55211767	7813753	28	34667											
ZXDB	158586	broad.mit.edu	37	chrX	57618946	57618946	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggttcccactccggccccGatctccgcccccggccccgc	10	24	1	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:57618946G>A	ENST00000374888.1	+	1	678	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	155					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						ctccggccccgatctccgccc	0.741																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(463-465)ccG>ccA		zinc finger, X-linked, duplicated B							4	6	5					X																	57618946		1888	3698	5586	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618946G>A	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.465G>A	X.37:g.57618946G>A							p.P155P	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	678	+			155					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.465G>A	CCDS35313.1																																																																																				0.741	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	6	0	0	0	1	0	4	6					A	57618946	G	A	57618946	2	1	382	1	0	0	0	0	0	0	0	1	18248	1045	37	1		1	ZXDB	23	57618946	Silent	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		57618946	97651614	29	34668											
VSIG1	340547	broad.mit.edu	37	chrX	107288369	107288369	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctccacacaatggtgttCgcattttggaaggtctttct	8	10	2	0			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:107288369C>T	ENST00000217957.5	+	1	126	c.9C>T	c.(7-9)ttC>ttT	p.F3F	VSIG1_ENST00000415430.3_Silent_p.F3F	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	3						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAATGGTGTTCGCATTTTGGA	0.448																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(7-9)ttC>ttT		V-set and immunoglobulin domain containing 1							116	75	89					X																	107288369		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107288369C>T	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.9C>T	X.37:g.107288369C>T						VSIG1_ENST00000217957.5_Silent_p.F3F	p.F3F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			1	170	+			3					C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.9C>T	CCDS14535.1																																																																																				0.448	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		3	13	0	0	0	1	0	3	13					T	107288369	C	T	107288369	2	4	382	1	0	0	0	0	0	0	0	1	17219	883	31	1		1	VSIG1	23	107288369	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	49669423	107288369	47982191	30	34669											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220336	130220336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggcaggttgctaagCgcgtgtggaagtccagcccg	15	10	1	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R439C(1)		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						GGTTGCTAAGCGCGTGTGGAA	0.453																																						ENST00000276211.5																			1	Substitution - Missense(1)	p.R439C(1)	large_intestine(1)	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						c.(1315-1317)Cgc>Tgc		Rho GTPase activating protein 36							100	91	94					X																	130220336		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220336C>T		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.1315C>T	X.37:g.130220336C>T	ENSP00000276211:p.Arg439Cys					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C	p.R439C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1660	+			439					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1315C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662549	0.29515	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10860	2.83;2.83;2.84;2.86	4.69	2.74	0.32292	.	0.000000	0.45126	D	0.000397	T	0.12433	0.0302	N	0.08118	0	0.43430	D	0.995599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.948	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.361	0.32359	0.4276:0.5724:0.0:0.0	.	408;427;439	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	439;427;408;303	ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C	ENSP00000276211:R439C	R	+	1	0	ARHGAP36	130048017	0.993000	0.37304	0.999000	0.59377	0.117000	0.20001	0.628000	0.24522	1.059000	0.40554	0.600000	0.82982	CGC		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		31	44	0	0	0	1	0	31	44					T	130220336	C	T	130220336	3	4	382	1	0	0	0	0	1	0	0	0	883	768	27	1	1349	1	ARHGAP36	23	130220336	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	22931967	130220336	25050224	31	34670											
EXTL1	2134	broad.mit.edu	37	chr1	26349229	26349229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcttctcccttctccGcctggcattgcctcccagac	10	17	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:26349229G>A	ENST00000374280.3	+	1	959	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	31					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTCTCCGCCTGGCATTG	0.657																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(91-93)cGc>cAc		exostosin-like glycosyltransferase 1							54	57	56					1																	26349229		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349229G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.92G>A	1.37:g.26349229G>A	ENSP00000363398:p.Arg31His						p.R31H	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	959	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	31					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.92G>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847410	0.51164	.	.	ENSG00000158008	ENST00000374280	D	0.95307	-3.67	5.32	4.33	0.51752	.	0.420814	0.24182	N	0.040784	D	0.94321	0.8175	L	0.50919	1.6	0.34348	D	0.689557	D	0.71674	0.998	P	0.58970	0.849	D	0.94397	0.7619	10	0.42905	T	0.14	-28.8255	8.9127	0.35563	0.1696:0.0:0.8304:0.0	.	31	Q92935	EXTL1_HUMAN	H	31	ENSP00000363398:R31H	ENSP00000363398:R31H	R	+	2	0	EXTL1	26221816	0.571000	0.26659	1.000000	0.80357	0.860000	0.49131	2.753000	0.47524	2.760000	0.94817	0.655000	0.94253	CGC		0.657	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		28	11	0	0	0	1	0	28	11					A	26349229	G	A	26349229	3	1	383	1	0	0	0	0	1	0	0	0	5325	1087	38	1	94	1	EXTL1	1	26349229	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		26349229	222901392	1	34671											
G0S2	50486	broad.mit.edu	37	chr1	209849305	209849305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggacacggtcctcggCggccgggccctgtccaaccg	14	17	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:209849305C>T	ENST00000367029.4	+	2	438	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	92					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CGGTCCTCGGCGGCCGGGCCC	0.667																																						ENST00000367029.4																			0				large_intestine(2)	2						c.(274-276)ggC>ggT		G0/G1switch 2							14	17	16					1																	209849305		2156	4234	6390	SO:0001819	synonymous_variant	50486				cell cycle			g.chr1:209849305C>T		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"putative lymphocyte G0/G1 switch gene"	614447	"G0/G1switch 2"			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.276C>T	1.37:g.209849305C>T						RP1-28O10.1_ENST00000441672.1_RNA	p.G92G	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.041)	2	438	+			92					Q6FGC8	Silent	SNP	ENST00000367029.4	37	c.276C>T	CCDS1488.1																																																																																				0.667	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714		13	22	0	0	0	1	0	13	22					T	209849305	C	T	209849305	2	4	383	1	0	0	0	0	0	0	0	1	6139	755	27	1		1	G0S2	1	209849305	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	183500076	209849305	39401316	2	34672											
RYR2	6262	broad.mit.edu	37	chr1	237957283	237957283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggccagtgggatagactCgtaatcaacacacagtgagt	11	8	1	2			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:237957283C>T	ENST00000366574.2	+	95	14216	c.13899C>T	c.(13897-13899)ctC>ctT	p.L4633L	RYR2_ENST00000542537.1_Silent_p.L4617L|RYR2_ENST00000360064.6_Silent_p.L4639L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4633					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)			GGGATAGACTCGTAATCAACA	0.363																																						ENST00000366574.2																			0				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						c.(13897-13899)ctC>ctT		ryanodine receptor 2 (cardiac)							71	69	69					1																	237957283		1819	4081	5900	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237957283C>T	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.13899C>T	1.37:g.237957283C>T						RYR2_ENST00000360064.6_Silent_p.L4639L|RYR2_ENST00000542537.1_Silent_p.L4617L	p.L4633L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14216	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4633					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13899C>T	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	18	0	0	0	1	0	15	18					T	237957283	C	T	237957283	2	4	383	1	0	0	0	0	0	0	0	1	13769	871	31	1		1	RYR2	1	237957283	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28107978	237957283	11293338	3	34673											
FZD7	8324	broad.mit.edu	37	chr2	202900715	202900715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcttcgtgtccctcttcCgtatccgcaccatcatgaaa	7	16	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:202900715C>T	ENST00000286201.1	+	1	1406	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	449					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCTCTTCCGTATCCGCAC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1345-1347)Cgt>Tgt		frizzled family receptor 7							113	92	99					2																	202900715		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900715C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1345C>T	2.37:g.202900715C>T	ENSP00000286201:p.Arg449Cys		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R449C	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	1406	+			449					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1345C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546322	0.86022	.	.	ENSG00000155760	ENST00000286201	D	0.83673	-1.75	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94344	0.7573	10	0.87932	D	0	.	19.4726	0.94969	0.0:1.0:0.0:0.0	.	449	O75084	FZD7_HUMAN	C	449	ENSP00000286201:R449C	ENSP00000286201:R449C	R	+	1	0	FZD7	202608960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.118000	0.50414	2.618000	0.88619	0.561000	0.74099	CGT		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		34	93	0	0	0	1	0	34	93					T	202900715	C	T	202900715	3	4	383	1	0	0	0	0	1	0	0	0	6135	652	23	1	1347	1	FZD7	2	202900715	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		202900715	40298658	4	34674											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	34	0	0	0	1	0	22	34					T	209113112	C	T	209113112	3	4	383	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	6212397	209113112	34086261	5	34675											
MAP2	4133	broad.mit.edu	37	chr2	210560876	210560878	+	In_Frame_Del	DEL	GAA	GAA	-													ggagaccatctcctcatgatGaagaagagtttgaagtagaa							TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:210560876_210560878delGAA	ENST00000360351.4	+	7	4488_4490	c.3982_3984delGAA	c.(3982-3984)gaadel	p.E1330del	MAP2_ENST00000447185.1_In_Frame_Del_p.E1326del|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1330					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)	TCCTCATGATGAAGAAGAGTTTG	0.537																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				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						c.(3982-3984)del		microtubule-associated protein 2	Estramustine(DB01196)																																			SO:0001651	inframe_deletion	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560876_210560878delGAA		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.3982_3984delGAA	2.37:g.210560879_210560881delGAA	ENSP00000353508:p.Glu1330del					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_In_Frame_Del_p.E1326del|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	p.E1330del	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		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)	7	4488_4490	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1330					Q17S04|Q8IUX2|Q99975|Q99976	In_Frame_Del	DEL	ENST00000360351.4	37	c.3982_3984delGAA	CCDS2384.1																																																																																				0.537	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		7	136						7	136	---	---	---	---	-	210560878	GAA	-	210560876	7	5	383	1	0	1	0	1	0	0	0	0	9235	1291	45	0	3996	0	MAP2	2	210560876	In_Frame_Del	DEL	GAA	TCGA-QH-A65Z-01A-11D-A29Q-08	1447764	210560876	32638497	6	34676											
CTNNB1	1499	broad.mit.edu	37	chr3	41275294	41275294	+	Frame_Shift_Del	DEL	T	T	-													ggcccagaatgcagttcgccTtcactatggactaccagttg							TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:41275294delT	ENST00000349496.5	+	9	1740	c.1460delT	c.(1459-1461)cttfs	p.L487fs	CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs|CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	487					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|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)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|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)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GCAGTTCGCCTTCACTATGGA	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1459-1461)ctfs		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						197	178	184					3																	41275294		2203	4300	6503	SO:0001589	frameshift_variant	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275294delT	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1460delT	3.37:g.41275294delT	ENSP00000344456:p.Leu487fs					CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs	p.L487fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1740	+			487					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Frame_Shift_Del	DEL	ENST00000349496.5	37	c.1460delT	CCDS2694.1																																																																																				0.493	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		105	166						105	166	---	---	---	---	-	41275294	T	-	41275294	7	5	383	1	0	1	0	1	0	0	0	0	4016	1609	56	0	1490	0	CTNNB1	3	41275294	Frame_Shift_Del	DEL	T	TCGA-QH-A65Z-01A-11D-A29Q-08		41275294	156747136	7	34677											
ECT2	1894	broad.mit.edu	37	chr3	172501694	172501694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaccaagatttcatgcttttCtcaaggtaatgtgtgtttct	7	7	3	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:172501694C>T	ENST00000392692.3	+	16	1899	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	ECT2_ENST00000417960.1_Missense_Mutation_p.L543F|ECT2_ENST00000232458.5_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000441497.2_Missense_Mutation_p.L544F	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)			TCATGCTTTTCTCAAGGTAAT	0.274																																						ENST00000417960.1																			0				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						c.(1627-1629)Ctc>Ttc		epithelial cell transforming sequence 2 oncogene							44	49	47					3																	172501694		2201	4284	6485	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172501694C>T	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.1723C>T	3.37:g.172501694C>T	ENSP00000376457:p.Leu575Phe					ECT2_ENST00000441497.2_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000392692.3_Missense_Mutation_p.L575F|ECT2_ENST00000232458.5_Missense_Mutation_p.L544F	p.L543F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		16	2104	+	Ovarian(172;0.00197)|Breast(254;0.158)		544			DH.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1627C>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870394	0.72065	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.98	3.22	0.36961	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.67569	2.06	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.995;1.0;0.999;0.985	D;D;D;D;D	0.97110	0.99;0.963;1.0;0.977;0.943	T	0.77958	-0.2392	10	0.87932	D	0	-9.6519	8.6665	0.34123	0.0:0.6715:0.0:0.3285	.	575;20;575;544;543	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	F	544;575;544;543;544;575	ENSP00000232458:L544F;ENSP00000376457:L575F;ENSP00000401910:L544F;ENSP00000415876:L543F;ENSP00000412259:L544F;ENSP00000443160:L575F	ENSP00000232458:L544F	L	+	1	0	ECT2	173984388	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.049000	0.30392	1.541000	0.49316	-0.145000	0.13849	CTC		0.274	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		17	22	0	0	0	1	0	17	22					T	172501694	C	T	172501694	3	4	383	1	0	0	0	0	1	0	0	0	4901	913	32	2	1684	2	ECT2	3	172501694	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	131226400	172501694	25520736	8	34678											
RBM47	54502	broad.mit.edu	37	chr4	40440295	40440295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgagccatggcagccgCgcggtggctctcgtactcca	15	15	1	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:40440295C>T	ENST00000381793.2	-	3	1012	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.A168T|RBM47_ENST00000319592.4_Missense_Mutation_p.A206T|RBM47_ENST00000295971.7_Missense_Mutation_p.A206T|RBM47_ENST00000381795.6_Missense_Mutation_p.A206T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGGCAGCCGCGCGGTGGCTC	0.667																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(616-618)Gcg>Acg		RNA binding motif protein 47							41	38	39					4																	40440295		2203	4299	6502	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440295C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.616G>A	4.37:g.40440295C>T	ENSP00000371212:p.Ala206Thr					RBM47_ENST00000514014.1_Missense_Mutation_p.A168T|RBM47_ENST00000381795.6_Missense_Mutation_p.A206T|RBM47_ENST00000381793.2_Missense_Mutation_p.A206T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.A206T	p.A206T			A0AV96	RBM47_HUMAN			4	1325	-			206			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.616G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707145	0.89018	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053	T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.51914	1.62	0.80722	D	1	D;P	0.76494	0.999;0.83	D;P	0.85130	0.997;0.568	T	0.01345	-1.1379	10	0.44086	T	0.13	-20.9182	20.0591	0.97667	0.0:1.0:0.0:0.0	.	206;206	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	206;206;206;206;168;206	ENSP00000320108:A206T;ENSP00000371212:A206T;ENSP00000371214:A206T;ENSP00000295971:A206T;ENSP00000423243:A168T;ENSP00000422564:A206T	ENSP00000295971:A206T	A	-	1	0	RBM47	40135052	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.818000	0.86416	2.747000	0.94245	0.462000	0.41574	GCG		0.667	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		4	99	0	0	0	1	0	4	99					T	40440295	C	T	40440295	3	4	383	1	0	0	0	0	1	0	0	0	13141	768	27	1	1181	1	RBM47	4	40440295	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		40440295	150713981	9	34679											
TACR3	6870	broad.mit.edu	37	chr4	104510918	104510918	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagatttggaattcctgcgaGagcagccattgaaacttggg	12	8	0	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:104510918G>A	ENST00000304883.2	-	5	1459	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	440					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCCTGCGAGAGCAGCCATT	0.478																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1318-1320)tCt>tTt		tachykinin receptor 3							161	153	156					4																	104510918		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510918G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1319C>T	4.37:g.104510918G>A	ENSP00000303325:p.Ser440Phe					RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	p.S440F	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1459	-		Hepatocellular(203;0.217)	440					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1319C>T	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582789	0.65992	.	.	ENSG00000169836	ENST00000304883	T	0.67345	-0.26	5.48	5.48	0.80851	.	0.083720	0.51477	D	0.000086	T	0.76169	0.3950	M	0.73319	2.225	0.51482	D	0.999928	D	0.54397	0.966	P	0.52159	0.691	T	0.78879	-0.2030	10	0.62326	D	0.03	.	18.3752	0.90433	0.0:0.0:1.0:0.0	.	440	P29371	NK3R_HUMAN	F	440	ENSP00000303325:S440F	ENSP00000303325:S440F	S	-	2	0	TACR3	104730367	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	5.709000	0.68384	2.572000	0.86782	0.655000	0.94253	TCT		0.478	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		68	107	0	0	0	1	0	68	107					A	104510918	G	A	104510918	3	1	383	1	0	0	0	0	1	0	0	0	15504	942	33	2	82	2	TACR3	4	104510918	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	64070623	104510918	86643358	10	34680											
ABCE1	6059	broad.mit.edu	37	chr4	146044497	146044497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaagactgatggcagctcGagttgtcaaacggtaaatat	11	7	1	2	rs201368309		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:146044497G>A	ENST00000296577.4	+	15	2020	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	502	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCAGCTCGAGTTGTCAAA	0.383																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(1504-1506)cGa>cAa		ATP-binding cassette, sub-family E (OABP), member 1							84	85	85					4																	146044497		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146044497G>A	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1505G>A	4.37:g.146044497G>A	ENSP00000296577:p.Arg502Gln					OTUD4_ENST00000455611.2_Intron	p.R502Q	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			15	2020	+	all_hematologic(180;0.151)		502			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.1505G>A	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015483	0.75161	.	.	ENSG00000164163	ENST00000296577	D	0.90955	-2.76	5.69	4.85	0.62838	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	N	0.16708	0.43	0.80722	D	1	P	0.42248	0.774	B	0.35688	0.208	D	0.85404	0.1133	10	0.87932	D	0	-30.0107	15.2472	0.73513	0.0673:0.0:0.9327:0.0	.	502	P61221	ABCE1_HUMAN	Q	502	ENSP00000296577:R502Q	ENSP00000296577:R502Q	R	+	2	0	ABCE1	146263947	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	1.557000	0.49525	-0.119000	0.15052	CGA		0.383	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		37	32	0	0	0	1	0	37	32					A	146044497	G	A	146044497	3	1	383	1	0	0	0	0	1	0	0	0	64	1058	37	1	1559	1	ABCE1	4	146044497	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	41533579	146044497	45109779	11	34681											
DNAJC21	134218	broad.mit.edu	37	chr5	34950354	34950354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatactaacttaaatcaagAcagtgccaaagaattggaag	8	6	1	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:34950354A>G	ENST00000342382.4	+	10	1492	c.1265A>G	c.(1264-1266)gAc>gGc	p.D422G	DNAJC21_ENST00000382021.2_Missense_Mutation_p.D467G|DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D435G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	422					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)			TTAAATCAAGACAGTGCCAAA	0.358																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1399-1401)gAc>gGc		DnaJ (Hsp40) homolog, subfamily C, member 21							97	95	96					5																	34950354		2203	4299	6502	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34950354A>G		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.1265A>G	5.37:g.34950354A>G	ENSP00000343728:p.Asp422Gly					DNAJC21_ENST00000342382.4_Missense_Mutation_p.D422G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D435G|DNAJC21_ENST00000512136.1_3'UTR	p.D467G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		11	1627	+	all_lung(31;7.08e-05)		422					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1400A>G	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796270	0.31777	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.49432	0.78;0.82;0.81	5.67	3.14	0.36123	.	0.828840	0.11310	N	0.577211	T	0.35624	0.0938	L	0.44542	1.39	0.28079	N	0.932283	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.25710	-1.0124	10	0.21540	T	0.41	-13.4654	5.9074	0.19008	0.6622:0.2517:0.0861:0.0	.	435;422;467	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	G	422;467;435	ENSP00000343728:D422G;ENSP00000371451:D467G;ENSP00000306289:D435G	ENSP00000306289:D435G	D	+	2	0	DNAJC21	34986111	0.408000	0.25360	1.000000	0.80357	0.966000	0.64601	0.982000	0.29539	0.973000	0.38340	0.477000	0.44152	GAC		0.358	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		3	47	0	0	0	1	0	3	47					G	34950354	A	G	34950354	3	3	383	1	0	0	0	0	1	0	0	0	4640	275	10	3	1442	3	DNAJC21	5	34950354	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		34950354	145964906	12	34682											
PHF3	23469	broad.mit.edu	37	chr6	64423124	64423124	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagcatcaaggtatataggCccgcagaatttttaccaggt	9	9	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr6:64423124C>G	ENST00000262043.3	+	16	5980	c.5640C>G	c.(5638-5640)ggC>ggG	p.G1880G	PHF3_ENST00000393387.1_Silent_p.G1880G			Q92576	PHF3_HUMAN	PHD finger protein 3	1880					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)			GGTATATAGGCCCGCAGAATT	0.507																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5638-5640)ggC>ggG		PHD finger protein 3							71	80	77					6																	64423124		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64423124C>G	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.5640C>G	6.37:g.64423124C>G						PHF3_ENST00000393387.1_Silent_p.G1880G	p.G1880G			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5980	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1880					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.5640C>G	CCDS4966.1																																																																																				0.507	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			12	148	0	0	0	1	0	12	148					G	64423124	C	G	64423124	2	3	383	1	0	0	0	0	0	0	0	1	11836	726	26	4		4	PHF3	6	64423124	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		64423124	106691943	13	34683											
TNS3	64759	broad.mit.edu	37	chr7	47408297	47408297	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagggggatgtggcccaCtgcctacacccctctggaca	12	14	2	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:47408297C>G	ENST00000398879.1	-	17	2312	c.1946G>C	c.(1945-1947)aGt>aCt	p.S649T	TNS3_ENST00000355730.3_Missense_Mutation_p.S409T|TNS3_ENST00000311160.9_Missense_Mutation_p.S649T			Q68CZ2	TENS3_HUMAN	tensin 3	649					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						ATGTGGCCCACTGCCTACACC	0.642																																						ENST00000398879.1																			0				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						c.(1945-1947)aGt>aCt		tensin 3							65	77	73					7																	47408297		2078	4209	6287	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408297C>G	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.1946G>C	7.37:g.47408297C>G	ENSP00000381854:p.Ser649Thr					TNS3_ENST00000355730.3_Missense_Mutation_p.S409T|TNS3_ENST00000311160.9_Missense_Mutation_p.S649T	p.S649T			Q68CZ2	TENS3_HUMAN			17	2312	-			649					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1946G>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	3.561	-0.089631	0.07053	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94576	-2.95;-2.95;-3.46;-3.03	5.59	1.19	0.21007	.	1.670930	0.02852	N	0.129262	D	0.87229	0.6125	N	0.19112	0.55	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.74987	-0.3476	10	0.18276	T	0.48	0.7207	0.8669	0.01206	0.1531:0.3418:0.2412:0.2639	.	649	Q68CZ2	TENS3_HUMAN	T	649;759;649;409;105;752	ENSP00000312143:S649T;ENSP00000381854:S649T;ENSP00000347968:S409T;ENSP00000414358:S752T	ENSP00000312143:S649T	S	-	2	0	TNS3	47374822	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.363000	0.20301	-0.085000	0.12573	0.655000	0.94253	AGT		0.642	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		4	174	0	0	0	1	0	4	174					G	47408297	C	G	47408297	3	3	383	1	0	0	0	0	1	0	0	0	16341	565	20	4	2451	4	TNS3	7	47408297	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		47408297	111730366	14	34684											
SLC26A4	5172	broad.mit.edu	37	chr7	107314667	107314667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgagcatggcccccgaCgaacactttctcgtatccag	9	14	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:107314667C>T	ENST00000265715.3	+	5	698	c.474C>T	c.(472-474)gaC>gaT	p.D158D		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	158					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						TGGCCCCCGACGAACACTTTC	0.433									Pendred syndrome																													ENST00000265715.3																			0				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						c.(472-474)gaC>gaT		solute carrier family 26 (anion exchanger), member 4							149	140	143					7																	107314667		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314667C>T	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.474C>T	7.37:g.107314667C>T							p.D158D	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			5	698	+			158					B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.474C>T	CCDS5746.1																																																																																				0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	80	0	0	0	1	0	5	80					T	107314667	C	T	107314667	2	4	383	1	0	0	0	0	0	0	0	1	14519	535	19	1		1	SLC26A4	7	107314667	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	59906370	107314667	51823996	15	34685											
SGK223	157285	broad.mit.edu	37	chr8	8234817	8234819	+	In_Frame_Del	DEL	TCA	TCA	-													cttctctggggcaggttcctTcatgagggagcagtaatcac							TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr8:8234817_8234819delTCA	ENST00000520004.1	-	3	1364_1366	c.1100_1102delTGA	c.(1099-1104)atgaag>aag	p.M367del	SGK223_ENST00000330777.4_In_Frame_Del_p.M367del			Q86YV5	SG223_HUMAN		369							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCAGGTTCCTTCATGAGGGAGCA	0.68																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(1099-1104)aag>a																																						SO:0001651	inframe_deletion	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234817_8234819delTCA																												ENST00000520004.1:c.1100_1102delTGA	8.37:g.8234817_8234819delTCA	ENSP00000428054:p.Met367del					SGK223_ENST00000330777.4_In_Frame_Del_p.MK367del	p.MK367del			Q86YV5	SG223_HUMAN			3	1364_1366	-			367					Q8N3N5	In_Frame_Del	DEL	ENST00000520004.1	37	c.1100_1102delTGA	CCDS43706.1																																																																																				0.68	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			15	26						15	26	---	---	---	---	-	8234819	TCA	-	8234817	7	5	383	1	0	1	0	1	0	0	0	0	14210	1792	62	0	3122	0	SGK223	8	8234817	In_Frame_Del	DEL	TCA	TCGA-QH-A65Z-01A-11D-A29Q-08		8234817	138129205	16	34686											
CREB3	57704	broad.mit.edu	37	chr9	35736644	35736644	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccatcctccccctgcAggcaaatctcacaaggaagg	9	15	1	0	rs200877201	byFrequency	TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:35736644A>C	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Missense_Mutation_p.Q346P|CREB3_ENST00000486056.1_3'UTR|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)			CTCCCCCTGCAGGCAAATCTC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(1036-1038)cAg>cCg		cAMP responsive element binding protein 3							135	138	137					9																	35736644		2203	4300	6503	SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736644A>C	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.35736644A>C			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.Q346P	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	9	1475	+	all_epithelial(49;0.167)		370			Pro-rich.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1037A>C	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250284	0.22880	.	.	ENSG00000107175	ENST00000353704	T	0.64438	-0.1	5.87	1.9	0.25705	.	0.481828	0.19683	N	0.108464	T	0.47021	0.1423	L	0.34521	1.04	0.21064	N	0.999798	P;B	0.38335	0.627;0.001	B;B	0.34489	0.184;0.004	T	0.33954	-0.9848	10	0.45353	T	0.12	.	11.5434	0.50679	0.57:0.4299:0.0:0.0	.	370;346	O43889;O43889-2	CREB3_HUMAN;.	P	346	ENSP00000342136:Q346P	ENSP00000342136:Q346P	Q	+	2	0	CREB3	35726644	0.062000	0.20869	0.849000	0.33467	0.251000	0.25915	0.190000	0.17057	0.519000	0.28406	0.533000	0.62120	CAG		0.567	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		69	187	0	0	0	1	0	69	187					C	35736644	A	C	35736644	1	2	383	0	1	0	0	0	0	0	0	0	3855	188	7	5		5	CREB3	9	35736644	IGR	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		35736644	105476787	17	34687											
SVEP1	79987	broad.mit.edu	37	chr9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggacacatgaacatatgtAggatccatctacgttcaggc	10	9	2	1	rs569537895		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GAACATATGTAGGATCCATCT	0.378													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19143	0.0		0.0	False		,,,				2504	0.0					ENST00000401783.2																			0				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						c.(5302-5304)Tac>Cac		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							151	145	147					9																	113194246		1971	4171	6142	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194246A>G	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.5302T>C	9.37:g.113194246A>G	ENSP00000384917:p.Tyr1768His					SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	p.Y1768H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			32	5638	-			1768			EGF-like 7; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5302T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587034	0.46110	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	D;D	0.94897	-3.55;-3.55	5.62	5.62	0.85841	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.058783	0.64402	D	0.000001	D	0.94594	0.8258	M	0.79614	2.46	0.80722	D	1	P	0.40931	0.733	B	0.42112	0.376	D	0.94293	0.7530	10	0.44086	T	0.13	.	15.8276	0.78727	1.0:0.0:0.0:0.0	.	1768	Q4LDE5	SVEP1_HUMAN	H	1768;1745	ENSP00000384917:Y1768H;ENSP00000363593:Y1745H	ENSP00000363593:Y1745H	Y	-	1	0	SVEP1	112234067	1.000000	0.71417	0.980000	0.43619	0.013000	0.08279	6.580000	0.74040	2.122000	0.65172	0.533000	0.62120	TAC		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	64	0	0	0	1	0	28	64					G	113194246	A	G	113194246	3	3	383	1	0	0	0	0	1	0	0	0	15417	420	15	3	5481	3	SVEP1	9	113194246	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	77457602	113194246	28019185	18	34688											
MYST4	23522	broad.mit.edu	37	chr10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													catcagcctgggaagaaaagAcaaacagaggaagaggaagg							TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					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)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	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.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		14	37						14	37	---	---	---	---	-	76784949	ACAA	-	76784946	7	5	383	1	0	1	0	1	0	0	0	0	10105	272	10	0	3661	0	MYST4	10	76784946	Frame_Shift_Del	DEL	ACAA	TCGA-QH-A65Z-01A-11D-A29Q-08		76784946	58749801	19	34689											
CNNM1	26507	broad.mit.edu	37	chr10	101124220	101124220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggccttcgctttgaaaAtggagcctttacttactatg	10	8	0	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:101124220A>G	ENST00000356713.4	+	5	2364	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S|CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	692					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCTTTGAAAATGGAGCCTTT	0.423																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2074-2076)aAt>aGt		cyclin M1							120	95	104					10																	101124220		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101124220A>G	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2075A>G	10.37:g.101124220A>G	ENSP00000349147:p.Asn692Ser					CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S|CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S	p.N692S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	5	2364	+		Colorectal(252;0.234)	692					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2075A>G	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317190	0.23908	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.83075	-1.66;-1.68;-1.65;-0.63	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	N	0.11698	0.16	0.58432	D	0.999992	B;B;B;B	0.28026	0.111;0.198;0.006;0.005	B;B;B;B	0.33846	0.125;0.171;0.008;0.024	T	0.66689	-0.5860	10	0.06494	T	0.89	-17.9447	15.9362	0.79712	1.0:0.0:0.0:0.0	.	327;692;327;692	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	S	692;621;621;327;145	ENSP00000349147:N692S;ENSP00000406492:N621S;ENSP00000359559:N621S;ENSP00000359565:N327S	ENSP00000349147:N692S	N	+	2	0	CNNM1	101114210	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.015000	0.64035	2.170000	0.68504	0.379000	0.24179	AAT		0.423	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		7	15	0	0	0	1	0	7	15					G	101124220	A	G	101124220	3	3	383	1	0	0	0	0	1	0	0	0	3612	101	4	3	2093	3	CNNM1	10	101124220	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	24339274	101124220	34410527	20	34690											
ACACB	32	broad.mit.edu	37	chr12	109616926	109616926	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccaggctcgcccatctttCtcatgaagctggcccagcac	8	17	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:109616926C>G	ENST00000338432.7	+	10	1590	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ACACB_ENST00000377854.5_Missense_Mutation_p.L491V|ACACB_ENST00000377848.3_Missense_Mutation_p.L491V|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	491	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				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)	GCCCATCTTTCTCATGAAGCT	0.562																																						ENST00000338432.7																			0				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						c.(1471-1473)Ctc>Gtc		acetyl-CoA carboxylase beta	Biotin(DB00121)						55	45	48					12																	109616926		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109616926C>G	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.1471C>G	12.37:g.109616926C>G	ENSP00000341044:p.Leu491Val					ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L491V|ACACB_ENST00000377854.5_Missense_Mutation_p.L491V	p.L491V			O00763	ACACB_HUMAN			10	1590	+			491			ATP-grasp.|Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1471C>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176518	0.09443	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97041	-4.22;-4.22;-4.22	5.2	3.29	0.37713	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.311188	0.34460	N	0.003944	D	0.90981	0.7164	N	0.10707	0.03	0.80722	D	1	B	0.12013	0.005	B	0.17722	0.019	D	0.85936	0.1455	10	0.11485	T	0.65	.	15.5997	0.76613	0.0:0.564:0.436:0.0	.	491	O00763	ACACB_HUMAN	V	491	ENSP00000341044:L491V;ENSP00000367079:L491V;ENSP00000367085:L491V	ENSP00000341044:L491V	L	+	1	0	ACACB	108101309	0.979000	0.34478	0.974000	0.42286	0.914000	0.54420	2.092000	0.41700	1.168000	0.42723	0.643000	0.83706	CTC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		14	27	0	0	0	1	0	14	27					G	109616926	C	G	109616926	3	3	383	1	0	0	0	0	1	0	0	0	107	913	32	4	1505	4	ACACB	12	109616926	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		109616926	24234969	21	34691											
RBBP6	5930	broad.mit.edu	37	chr16	24567746	24567747	+	Frame_Shift_Ins	INS	-	-	A													gcttaccaacactggaaaatINSatgcaataccaactatagat							TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:24567746_24567747insA	ENST00000319715.4	+	7	1084_1085	c.652_653insA	c.(652-654)tatfs	p.Y218fs	RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y218fs|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y218fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	218					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACTGGAAAATATGCAATACCA	0.401																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(652-654)tgcfs		retinoblastoma binding protein 6																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567746_24567747insA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.653dupA	16.37:g.24567747_24567747dupA	ENSP00000317872:p.Tyr218fs					RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.C218fs|RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.C218fs	p.C218fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	7	1084_1085	+			218					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	c.652_653insA	CCDS10621.1																																																																																				0.401	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		14	51						14	51	---	---	---	---	A	24567747	-	A	24567746	7	5	383	1	0	1	1	0	0	0	0	0	13103	1406	49	0	732	0	RBBP6	16	24567746	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08		24567746	65787007	22	34692											
ACSF3	197322	broad.mit.edu	37	chr16	89180794	89180794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcccagtgctggagaAgtggaagaacatcacgggcc	13	13	1	2			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:89180794A>G	ENST00000317447.4	+	6	1402	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	342					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGCTGGAGAAGTGGAAGAAC	0.647																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(1024-1026)aAg>aGg		acyl-CoA synthetase family member 3							134	107	116					16																	89180794		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89180794A>G	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1025A>G	16.37:g.89180794A>G	ENSP00000320646:p.Lys342Arg					ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R|ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|CTD-2555A7.3_ENST00000562782.1_RNA	p.K342R	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	6	1402	+			342					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.1025A>G	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401645	0.25291	.	.	ENSG00000176715	ENST00000537895;ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.12	-3.0	0.05480	AMP-dependent synthetase/ligase (1);	0.252182	0.42548	N	0.000699	T	0.14657	0.0354	N	0.02736	-0.51	0.25457	N	0.987951	B	0.09022	0.002	B	0.15484	0.013	T	0.31613	-0.9937	10	0.07325	T	0.83	-22.6122	13.2446	0.60016	0.4409:0.0:0.5591:0.0	.	342	Q4G176	ACSF3_HUMAN	R	77;342;77;342;77;77	ENSP00000439201:K77R;ENSP00000320646:K342R;ENSP00000445397:K77R;ENSP00000384627:K342R;ENSP00000367596:K77R;ENSP00000442781:K77R	ENSP00000320646:K342R	K	+	2	0	ACSF3	87708295	1.000000	0.71417	0.957000	0.39632	0.454000	0.32378	1.070000	0.30653	-0.415000	0.07484	-0.379000	0.06801	AAG		0.647	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		32	90	0	0	0	1	0	32	90					G	89180794	A	G	89180794	3	3	383	1	0	0	0	0	1	0	0	0	176	72	3	3	1039	3	ACSF3	16	89180794	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	64613048	89180794	1173959	23	34693											
MED24	9862	broad.mit.edu	37	chr17	38188968	38188968	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggagactcaatgagccccacGaagcaagctttccagatctc	9	13	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:38188968G>T	ENST00000394128.2	-	9	951	c.870C>A	c.(868-870)ttC>ttA	p.F290L	MED24_ENST00000501516.3_Missense_Mutation_p.F309L|MED24_ENST00000394126.1_Missense_Mutation_p.F315L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000394127.2_Missense_Mutation_p.F277L	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	290					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|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 cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGAGCCCCACGAAGCAAGCTT	0.577																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(943-945)ttC>ttA		mediator complex subunit 24							84	83	83					17																	38188968		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38188968G>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.870C>A	17.37:g.38188968G>T	ENSP00000377686:p.Phe290Leu					MED24_ENST00000394128.2_Missense_Mutation_p.F290L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000394127.2_Missense_Mutation_p.F277L|MED24_ENST00000501516.3_Missense_Mutation_p.F309L	p.F315L			O75448	MED24_HUMAN			8	1363	-	Colorectal(19;0.000442)		290					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.945C>A	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545629	0.45280	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	T;T;T	0.36520	1.25;1.25;1.25	5.05	-8.84	0.00803	Mediator complex, subunit Med24, N-terminal (1);	0.106321	0.64402	N	0.000004	T	0.16128	0.0388	N	0.16602	0.42	0.48696	D	0.999695	B;B;B;B;B;B;B	0.14805	0.004;0.011;0.003;0.001;0.0;0.0;0.002	B;B;B;B;B;B;B	0.19666	0.006;0.026;0.003;0.005;0.002;0.003;0.004	T	0.37174	-0.9717	10	0.06891	T	0.86	-10.6718	16.9138	0.86146	0.6771:0.0:0.3229:0.0	.	240;219;240;200;277;290;232	B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;MED24_HUMAN;.	L	290;290;290;240;277;232;200	ENSP00000377686:F290L;ENSP00000443344:F240L;ENSP00000377685:F277L	ENSP00000348610:F290L	F	-	3	2	MED24	35442494	0.082000	0.21442	0.650000	0.29550	0.933000	0.57130	-0.384000	0.07389	-1.857000	0.01159	-0.137000	0.14449	TTC		0.577	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		23	21	1	0	6.21321e-17	1	6.61842e-17	23	21					T	38188968	G	T	38188968	3	4	383	1	0	0	0	0	1	0	0	0	9442	1049	37	4	2171	4	MED24	17	38188968	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		38188968	43006242	24	34694											
FAM20A	54757	broad.mit.edu	37	chr17	66533685	66533685	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccgtcgactatgacaCtctgctgtccatgggccact	11	14	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:66533685C>G	ENST00000592554.1	-	11	2281	c.1559G>C	c.(1558-1560)aGt>aCt	p.S520T	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	520					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)					GACTATGACACTCTGCTGTCC	0.572																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(1558-1560)aGt>aCt		family with sequence similarity 20, member A							90	69	76					17																	66533685		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66533685C>G	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.1559G>C	17.37:g.66533685C>G	ENSP00000468308:p.Ser520Thr					PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	p.S520T	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			11	2281	-	Breast(10;1.64e-13)		520					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1559G>C	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167561	0.21621	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.81	3.42	0.39159	.	0.802027	0.12970	N	0.424234	T	0.27594	0.0678	L	0.40543	1.245	0.09310	N	1	B;B	0.17268	0.021;0.003	B;B	0.16289	0.015;0.003	T	0.15723	-1.0427	9	0.22109	T	0.4	-0.2864	1.9539	0.03372	0.1281:0.4031:0.24:0.2288	.	520;375	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	T	520;124	.	ENSP00000226094:S520T	S	-	2	0	FAM20A	64045280	0.000000	0.05858	0.009000	0.14445	0.623000	0.37688	-0.110000	0.10824	1.371000	0.46172	0.555000	0.69702	AGT		0.572	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		3	30	0	0	0	1	0	3	30					G	66533685	C	G	66533685	3	3	383	1	0	0	0	0	1	0	0	0	5537	565	20	4	70	4	FAM20A	17	66533685	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28344717	66533685	14661525	25	34695											
ZACN	353174	broad.mit.edu	37	chr17	74075804	74075805	+	Frame_Shift_Ins	INS	-	-	CC													catcctgcgatacacaatgtINScctccatgctgctgcttagg							TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:74075804_74075805insCC	ENST00000334586.5	+	3	327_328	c.244_245insCC	c.(244-246)tccfs	p.S82fs	EXOC7_ENST00000591724.1_5'Flank|ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	82					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ATACACAATGTCCTCCATGCTG	0.569																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(244-246)ctcfs		zinc activated ligand-gated ion channel																																				SO:0001589	frameshift_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74075804_74075805insCC	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.245_246dupCC	17.37:g.74075805_74075806dupCC	ENSP00000334854:p.Ser82fs					ZACN_ENST00000392503.2_Intron	p.L82fs	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			3	327_328	+			82					Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Ins	INS	ENST00000334586.5	37	c.244_245insCC	CCDS11740.2																																																																																				0.569	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		21	55						21	55	---	---	---	---	CC	74075805	-	CC	74075804	7	5	383	1	0	1	1	0	0	0	0	0	17507	1667	58	0	254	0	ZACN	17	74075804	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	7542119	74075804	7119406	26	34696											
ARRDC5	645432	broad.mit.edu	37	chr19	4891396	4891396	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtgaagccctcgtactGtatgtgggcatacagggcga	16	9	0	1	rs367661784		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:4891396G>C	ENST00000381781.2	-	3	690	c.691C>G	c.(691-693)Cag>Gag	p.Q231E	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	231										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCGTACTGTATGTGGGCA	0.587																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(691-693)Cag>Gag		arrestin domain containing 5							90	94	93					19																	4891396		2084	4230	6314	SO:0001583	missense	645432				signal transduction			g.chr19:4891396G>C		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.691C>G	19.37:g.4891396G>C	ENSP00000371200:p.Gln231Glu						p.Q231E	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	690	-			231						Missense_Mutation	SNP	ENST00000381781.2	37	c.691C>G	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	6.970	0.548855	0.13312	.	.	ENSG00000205784	ENST00000381781	T	0.17370	2.28	4.92	2.53	0.30540	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	2.099380	0.02091	N	0.053129	T	0.13628	0.0330	L	0.27053	0.805	0.09310	N	1	B	0.25772	0.134	B	0.26202	0.067	T	0.28396	-1.0045	10	0.06099	T	0.92	-3.6117	11.1773	0.48607	0.0:0.0:0.6699:0.3301	.	231	A6NEK1	ARRD5_HUMAN	E	231	ENSP00000371200:Q231E	ENSP00000371200:Q231E	Q	-	1	0	ARRDC5	4842396	0.033000	0.19621	0.006000	0.13384	0.002000	0.02628	2.239000	0.43079	1.340000	0.45581	0.655000	0.94253	CAG		0.587	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		13	31	0	0	0	1	0	13	31					C	4891396	G	C	4891396	3	2	383	1	0	0	0	0	1	0	0	0	986	1386	48	4	341	4	ARRDC5	19	4891396	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		4891396	54237587	27	34697											
CIC	23152	broad.mit.edu	37	chr19	42797776	42797777	+	Frame_Shift_Del	DEL	GC	GC	-													cccagctcatcttcagactgGcgcgtccctgggcagggcct					rs587778206		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42797776_42797777delGC	ENST00000575354.2	+	16	3868_3869	c.3828_3829delGC	c.(3826-3831)tggcgcfs	p.R1277fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.R1275fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.R2184fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1277	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)				CTTCAGACTGGCGCGTCCCTGG	0.649			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(6547-6552)tggcfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797776_42797777delGC	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.3828_3829delGC	19.37:g.42797778_42797779delGC	ENSP00000458663:p.Arg1277fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.WR1276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.WR1274fs	p.WR2183fs			Q96RK0	CIC_HUMAN			17	6617_6618	+		Prostate(69;0.00682)	1276					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6549_6550delGC	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	8						10	8	---	---	---	---	-	42797777	GC	-	42797776	7	5	383	1	0	1	0	1	0	0	0	0	3424	1212	42	0	3890	0	CIC	19	42797776	Frame_Shift_Del	DEL	GC	TCGA-QH-A65Z-01A-11D-A29Q-08	37906380	42797776	16331207	28	34698											
CIC	23152	broad.mit.edu	37	chr19	42798989	42798990	+	Frame_Shift_Ins	INS	-	-	A													ctccagcccaggccacagccINSgccttccaggcccgctatgc					rs368086483|rs148444899		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42798989_42798990insA	ENST00000575354.2	+	20	4513_4514	c.4473_4474insA	c.(4474-4476)gccfs	p.A1492fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1490fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2398fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1492					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)				AGGCCACAGCCGCCTTCCAGGC	0.574			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7189-7194)gcccttfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798989_42798990insA	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		Exception_encountered	19.37:g.42798989_42798990insA	ENSP00000458663:p.Ala1492fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.L1492fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.L1490fs	p.L2398fs			Q96RK0	CIC_HUMAN			21	7259_7260	+		Prostate(69;0.00682)	1492					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.7191_7192insA	CCDS12601.1																																																																																				0.574	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	71						8	71	---	---	---	---	A	42798990	-	A	42798989	7	5	383	1	0	1	1	0	0	0	0	0	3424	639	23	0	4551	0	CIC	19	42798989	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	1213	42798989	16329994	29	34699											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895364	45895364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagggccacagcagggGcctgctccatggagcccctg	17	14	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:45895364G>A	ENST00000418234.2	-	8	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	530	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACAGCAGGGGCCTGCTCCAT	0.687																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1588-1590)gCc>gTc		protein phosphatase 1, regulatory subunit 13 like							32	37	35					19																	45895364		2203	4300	6503	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895364G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1589C>T	19.37:g.45895364G>A	ENSP00000403902:p.Ala530Val					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V	p.A530V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1667	-		all_neural(266;0.224)|Ovarian(192;0.231)	530			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1589C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580175	0.46006	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.56444	0.46;0.46	4.79	1.03	0.20045	.	0.294975	0.36338	N	0.002656	T	0.27027	0.0662	N	0.08118	0	0.23144	N	0.998221	B;B	0.26672	0.018;0.156	B;B	0.21917	0.016;0.037	T	0.17379	-1.0371	10	0.48119	T	0.1	.	7.5712	0.27909	0.1709:0.4646:0.3645:0.0	.	530;109	Q8WUF5;A7YME7	IASPP_HUMAN;.	V	530;530;104	ENSP00000403902:A530V;ENSP00000354218:A530V	ENSP00000221478:A104V	A	-	2	0	PPP1R13L	50587204	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	3.318000	0.51975	0.503000	0.28060	-0.321000	0.08615	GCC		0.687	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		12	53	0	0	0	1	0	12	53					A	45895364	G	A	45895364	3	1	383	1	0	0	0	0	1	0	0	0	12358	1203	42	2	921	2	PPP1R13L	19	45895364	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	3096375	45895364	13233619	30	34700											
PRR12	57479	broad.mit.edu	37	chr19	50100109	50100109	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccacctccaccgccAcccccgcctccaccacccat	3	28	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:50100109A>C	ENST00000418929.2	+	4	2529	c.2517A>C	c.(2515-2517)ccA>ccC	p.P839P		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)		CTCCACCGCCACCCCCGCCTC	0.741																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2515-2517)ccA>ccC		proline rich 12							4	5	4					19																	50100109		1573	3497	5070	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50100109A>C	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.2517A>C	19.37:g.50100109A>C							p.P839P	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2529	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	18					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.2517A>C	CCDS46143.1																																																																																				0.741	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	2	0	0	0	1	0	3	2					C	50100109	A	C	50100109	2	2	383	1	0	0	0	0	0	0	0	1	12584	146	6	5		5	PRR12	19	50100109	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	4204745	50100109	9028874	31	34701											
LAMA5	3911	broad.mit.edu	37	chr20	60888747	60888747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacgtagaagacgaagtcGtctggccgcaggttgagcag	15	10	1	3	rs187988761		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:60888747G>A	ENST00000252999.3	-	63	8682	c.8616C>T	c.(8614-8616)gaC>gaT	p.D2872D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2872	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|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)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGACGAAGTCGTCTGGCCGCA	0.662													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14737	0.0		0.0	False		,,,				2504	0.0					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(8614-8616)gaC>gaT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						90	73	79					20																	60888747		2203	4297	6500	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60888747G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8616C>T	20.37:g.60888747G>A							p.D2872D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		63	8682	-	Breast(26;1.57e-08)		2872			Laminin G-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.8616C>T	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		67	83	0	0	0	1	0	67	83					A	60888747	G	A	60888747	2	1	383	1	0	0	0	0	0	0	0	1	8609	1136	40	1		1	LAMA5	20	60888747	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		60888747	2136773	32	34702											
ITSN1	6453	broad.mit.edu	37	chr21	35183494	35183494	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcttcagagccctccacGacccctaataactgggccga	7	17	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T|ITSN1_ENST00000399349.1_Silent_p.T840T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2533-2535)acG>acA		intersectin 1 (SH3 domain protein)							87	81	83					21																	35183494		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183494G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2535G>A	21.37:g.35183494G>A						ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381291.4_Silent_p.T845T|ITSN1_ENST00000399338.4_Silent_p.T840T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.T840T	p.T845T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			21	2823	+			845					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.2535G>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958029	0.18507	.	.	ENSG00000205726	ENST00000440794	.	.	.	5.9	-9.33	0.00639	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.19451	-1.0305	4	.	.	.	.	5.5602	0.17140	0.4795:0.3105:0.1373:0.0728	.	.	.	.	N	80	.	.	D	+	1	0	ITSN1	34105364	0.005000	0.15991	0.100000	0.21137	0.988000	0.76386	-0.402000	0.07223	-1.853000	0.01165	-0.251000	0.11542	GAC		0.547	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		36	97	0	0	0	1	0	36	97					A	35183494	G	A	35183494	2	1	383	1	0	0	0	0	0	0	0	1	7926	1045	37	1		1	ITSN1	21	35183494	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		35183494	12946401	33	34703											
MOV10L1	54456	broad.mit.edu	37	chr22	50538030	50538030	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctctggagagtgtgtgcgaAggtatgctcaggggtctgtg	17	6	3	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr22:50538030A>T	ENST00000262794.5	+	3	524	c.441A>T	c.(439-441)gaA>gaT	p.E147D	MOV10L1_ENST00000395843.1_De_novo_Start_OutOfFrame|MOV10L1_ENST00000545383.1_Splice_Site_p.E147D|MOV10L1_ENST00000540615.1_Splice_Site_p.E127D|MOV10L1_ENST00000395858.3_Splice_Site_p.E147D|MOV10L1_ENST00000475190.1_3'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	147					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)		GTGTGTGCGAAGGTATGCTCA	0.512																																						ENST00000395843.1																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67								Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							110	93	99					22																	50538030		2203	4300	6503	SO:0001630	splice_region_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50538030A>T	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.442+1A>T	22.37:g.50538030A>T						MOV10L1_ENST00000262794.5_Splice_Site_p.E147_splice|MOV10L1_ENST00000545383.1_Splice_Site_p.E147_splice|MOV10L1_ENST00000395858.3_Splice_Site_p.E147_splice|MOV10L1_ENST00000540615.1_Splice_Site_p.E127_splice|MOV10L1_ENST00000475190.1_3'UTR				Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	0	443	+		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)						A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Translation_Start_Site	SNP	ENST00000262794.5	37		CCDS14084.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869783	0.33069	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000428564	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.76	2.48	0.30137	.	0.293590	0.37261	N	0.002178	T	0.51193	0.1660	M	0.78801	2.425	0.80722	D	1	P;P;P;P	0.52061	0.95;0.893;0.856;0.856	P;B;B;B	0.45343	0.477;0.318;0.285;0.285	T	0.45249	-0.9274	10	0.40728	T	0.16	-17.5766	4.7426	0.13022	0.7087:0.0:0.1527:0.1386	.	127;127;147;147	F5H403;E7EPK8;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	D	147;147;147;127;127	ENSP00000438978:E147D;ENSP00000262794:E147D;ENSP00000379199:E147D;ENSP00000438542:E127D	ENSP00000262794:E147D	E	+	3	2	MOV10L1	48880157	1.000000	0.71417	0.992000	0.48379	0.016000	0.09150	2.222000	0.42926	0.110000	0.17919	0.533000	0.62120	GAA		0.512	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	Missense_Mutation	14	41	0	0	0	1	0	14	41					T	50538030	A	T	50538030	5	4	383	1	0	0	0	0	0	0	1	0	9719	86	3	5	492	5	MOV10L1	22	50538030	Splice_Site	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		50538030	766536	34	34704											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	4						3	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	383	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-QH-A65Z-01A-11D-A29Q-08		51239296	104031264	35	34705											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879232	128879232	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggattacaggctttacAgggtctgcaggtgacaatca	13	8	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:128879232A>T	ENST00000371106.3	+	4	480	c.288A>T	c.(286-288)acA>acT	p.T96T	XPNPEP2_ENST00000371105.3_Silent_p.T96T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	96						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						CAGGCTTTACAGGGTCTGCAG	0.488																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(286-288)acA>acT		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							333	202	246					X																	128879232		2203	4300	6503	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128879232A>T	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.288A>T	X.37:g.128879232A>T						XPNPEP2_ENST00000371105.3_Silent_p.T96T	p.T96T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			4	480	+			96					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.288A>T	CCDS14613.1																																																																																				0.488	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		3	30	0	0	0	1	0	3	30					T	128879232	A	T	128879232	2	4	383	1	0	0	0	0	0	0	0	1	17440	175	7	5		5	XPNPEP2	23	128879232	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	77639936	128879232	26391328	36	34706											
SLC45A1	50651	broad.mit.edu	37	chr1	8399632	8399632	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccttcggcctggggacCgggcttgccaccctctccag	12	18	1	0	rs140511753	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:8399632C>A	ENST00000471889.1	+	8	2239	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	SLC45A1_ENST00000289877.8_Silent_p.T618T|SLC45A1_ENST00000377479.2_Silent_p.T652T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	618					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGGGACCGGGCTTGCCA	0.597																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1852-1854)acC>acA		solute carrier family 45, member 1							166	149	155					1																	8399632		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399632C>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1854C>A	1.37:g.8399632C>A						SLC45A1_ENST00000377479.2_Silent_p.T652T|SLC45A1_ENST00000289877.8_Silent_p.T618T	p.T618T			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2239	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	618					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1854C>A	CCDS30577.1																																																																																				0.597	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			4	164	1	0	0.150653	1	0.150653	4	164					A	8399632	C	A	8399632	2	1	384	1	0	0	0	0	0	0	0	1	14640	639	23	4		4	SLC45A1	1	8399632	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		8399632	240850989	1	34707											
LPPR5	163404	broad.mit.edu	37	chr1	99380375	99380375	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttttccaaaggactttcTactcgaggaatgctgatcat	7	10	2	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:99380375T>C	ENST00000263177.4	-	5	1121	c.900A>G	c.(898-900)gtA>gtG	p.V300V	LPPR5_ENST00000370188.3_Silent_p.V300V	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		300						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AAGGACTTTCTACTCGAGGAA	0.353																																						ENST00000370188.3																			0											c.(898-900)gtA>gtG									147	138	141					1																	99380375		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	hydrolase activity	g.chr1:99380375T>C																												ENST00000263177.4:c.900A>G	1.37:g.99380375T>C						LPPR5_ENST00000263177.4_Silent_p.V300V	p.V300V	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			5	1260	-			300					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.900A>G	CCDS30778.1																																																																																				0.353	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			6	86	0	0	0	1	0	6	86					C	99380375	T	C	99380375	2	2	384	1	0	0	0	0	0	0	0	1	8928	1509	53	3		3	LPPR5	1	99380375	Silent	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08	90980743	99380375	149870246	2	34708											
KIAA1715	80856	broad.mit.edu	37	chr2	176804298	176804298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgttttgtggaccatcaCcaaccaaatattcaacaatt	4	11	2	0			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:176804298C>A	ENST00000272748.4	-	10	1041	c.794G>T	c.(793-795)gGt>gTt	p.G265V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	265					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGGACCATCACCAACCAAATA	0.378																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(793-795)gGt>gTt		KIAA1715							109	103	105					2																	176804298		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176804298C>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.794G>T	2.37:g.176804298C>A	ENSP00000272748:p.Gly265Val					KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V	p.G265V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		10	1041	-			265					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.794G>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479203	0.84747	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.32	5.32	0.75619	Domain of unknown function DUF2296 (1);	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;0.999;0.997	D	0.90131	0.4206	9	0.87932	D	0	-10.4518	19.3572	0.94420	0.0:1.0:0.0:0.0	.	267;296;262;265	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	265;267;142;296;190	.	ENSP00000272748:G265V	G	-	2	0	KIAA1715	176512544	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.393000	0.79851	2.653000	0.90120	0.467000	0.42956	GGT		0.378	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		4	27	1	0	0.00909568	1	0.0093289	4	27					A	176804298	C	A	176804298	3	1	384	1	0	0	0	0	1	0	0	0	8254	507	18	4	508	4	KIAA1715	2	176804298	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		176804298	66395075	3	34709											
TTN	7273	broad.mit.edu	37	chr2	179477176	179477176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagccttttcgcctgacGtctctcttttccacaatgta	6	14	2	1	rs397517598		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:179477176G>A	ENST00000591111.1	-	216	45377	c.45153C>T	c.(45151-45153)gaC>gaT	p.D15051D	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.D14124D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.D7752D|TTN_ENST00000460472.2_Silent_p.D7627D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.D7819D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.D16692D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15051	Fibronectin type-III 9. {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)			TTCGCCTGACGTCTCTCTTTT	0.458																																						ENST00000589042.1																			0				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						c.(50074-50076)gaC>gaT		titin							112	99	103					2																	179477176		1932	4141	6073	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477176G>A	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.45153C>T	2.37:g.179477176G>A						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D7627D|TTN_ENST00000342992.6_Silent_p.D14124D|TTN_ENST00000342175.6_Silent_p.D7819D|TTN_ENST00000359218.5_Silent_p.D7752D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.D15051D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.D16692D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		266	50300	-			15051			Fibronectin type-III 21.		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	ENST00000591111.1	37	c.50076C>T																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	28	0	0	0	1	0	3	28					A	179477176	G	A	179477176	2	1	384	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179477176	Silent	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	2672878	179477176	63722197	4	34710											
APBB2	323	broad.mit.edu	37	chr4	40818255	40818255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagaaggcggcctggctaCcaagcacttctgatatcgta	11	11	1	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:40818255C>A	ENST00000295974.8	-	18	2760	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	APBB2_ENST00000502841.1_Missense_Mutation_p.V163L|APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	711	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCCTGGCTACCAAGCACTTC	0.403																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(2131-2133)Gta>Tta		amyloid beta (A4) precursor protein-binding, family B, member 2							118	116	116					4																	40818255		1936	4130	6066	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40818255C>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2131G>T	4.37:g.40818255C>A	ENSP00000295974:p.Val711Leu					APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000502841.1_Missense_Mutation_p.V163L	p.V711L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			18	2760	-			711			PID 2.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.2131G>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.31|16.31	3.087084|3.087084	0.55861|0.55861	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305	.|T;T;T;T;T;T;T	.|0.19669	.|2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Phosphotyrosine interaction domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46814|0.46814	0.1412|0.1412	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.996;0.999	.|D;D;D	.|0.85130	.|0.997;0.957;0.997	T|T	0.38351|0.38351	-0.9665|-0.9665	5|10	.|0.59425	.|D	.|0.04	-11.8582|-11.8582	19.2326|19.2326	0.93846|0.93846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|712;689;711	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	V|L	680|711;710;163;689;712;163;690;163	.|ENSP00000295974:V711L;ENSP00000439357:V163L;ENSP00000426018:V689L;ENSP00000427211:V712L;ENSP00000425802:V163L;ENSP00000421539:V690L;ENSP00000423765:V163L	.|ENSP00000295974:V711L	G|V	-|-	2|1	0|0	APBB2|APBB2	40513012|40513012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.014000|0.014000	0.08584|0.08584	7.818000|7.818000	0.86416|0.86416	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.403	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		18	98	1	0	5.03518e-11	1	5.7545e-11	18	98					A	40818255	C	A	40818255	3	1	384	1	0	0	0	0	1	0	0	0	761	507	18	4	149	4	APBB2	4	40818255	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		40818255	150336021	5	34711											
FBXW7	55294	broad.mit.edu	37	chr4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttcttcagtcccattccGactcccaactgcacacacca	5	17	2	0			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					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.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(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)				GTCCCATTCCGACTCCCAACT	0.478			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		18	Substitution - Missense(17)|Unknown(1)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)	large_intestine(11)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)	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						c.(2065-2067)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							172	167	168					4																	153244092		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244092G>A	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.2065C>T	4.37:g.153244092G>A	ENSP00000281708:p.Arg689Trp					FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W	p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3294	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	689					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2065C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475565	0.26511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.82923	2.615	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	0.53892	-0.8374	10	0.87932	D	0	-15.04	14.5904	0.68359	0.0:0.0:0.854:0.146	.	513;689;571;609	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	689;571;609;513	ENSP00000281708:R689W;ENSP00000296555:R571W;ENSP00000263981:R609W;ENSP00000377528:R513W	ENSP00000263981:R609W	R	-	1	2	FBXW7	153463542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.681000	0.91329	0.655000	0.94253	CGG		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			22	121	0	0	0	1	0	22	121					A	153244092	G	A	153244092	3	1	384	1	0	0	0	0	1	0	0	0	5769	1057	37	1	62	1	FBXW7	4	153244092	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	112425837	153244092	37910184	6	34712											
SPATA4	132851	broad.mit.edu	37	chr4	177113947	177113947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaaccaggggtaaacgcatCtggtagctatagtccgtgaa	12	8	1	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:177113947C>A	ENST00000280191.2	-	4	627	c.519G>T	c.(517-519)caG>caT	p.Q173H	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	173						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)		GTAAACGCATCTGGTAGCTAT	0.353																																						ENST00000280191.2																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(517-519)caG>caT		spermatogenesis associated 4							64	63	63					4																	177113947		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113947C>A	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.519G>T	4.37:g.177113947C>A	ENSP00000280191:p.Gln173His					SPATA4_ENST00000515234.1_5'UTR	p.Q173H	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN		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)	4	627	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	173					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.519G>T	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962283	0.53400	.	.	ENSG00000150628	ENST00000280191	T	0.23950	1.88	5.27	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51100	-0.8748	10	0.87932	D	0	-13.2162	9.9326	0.41532	0.0:0.8384:0.0:0.1616	.	173	Q8NEY3	SPAT4_HUMAN	H	173	ENSP00000280191:Q173H	ENSP00000280191:Q173H	Q	-	3	2	SPATA4	177350941	0.956000	0.32656	0.995000	0.50966	0.688000	0.40055	0.479000	0.22228	0.699000	0.31761	0.655000	0.94253	CAG		0.353	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		9	41	1	0	5.4927e-09	1	5.93806e-09	9	41					A	177113947	C	A	177113947	3	1	384	1	0	0	0	0	1	0	0	0	15009	912	32	4	410	4	SPATA4	4	177113947	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	23869855	177113947	14040329	7	34713											
PIK3R1	5295	broad.mit.edu	37	chr5	67591287	67591287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcggcaaaagaagttgaaCgagtggttgggcaatgaaaa	14	4	0	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:67591287C>T	ENST00000521381.1	+	14	2401	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000523872.1_Silent_p.N232N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000521657.1_Silent_p.N595N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000396611.1_Silent_p.N595N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	595					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.M582_D605>I(4)|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)	AGAAGTTGAACGAGTGGTTGG	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(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						c.(1783-1785)aaC>aaT		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						153	156	155					5																	67591287		2203	4300	6503	SO:0001819	synonymous_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591287C>T	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.1785C>T	5.37:g.67591287C>T		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Silent_p.N232N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000396611.1_Silent_p.N595N|PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000521657.1_Silent_p.N595N	p.N595N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2401	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	595					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	37	c.1785C>T	CCDS3993.1																																																																																				0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		5	71	0	0	0	1	0	5	71					T	67591287	C	T	67591287	2	4	384	1	0	0	0	0	0	0	0	1	11918	535	19	1		1	PIK3R1	5	67591287	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		67591287	113323973	8	34714											
DHFR	1719	broad.mit.edu	37	chr5	79945214	79945214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaaggtacttacttgagtTctctgctgagaactaaatta	8	6	1	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:79945214T>C	ENST00000439211.2	-	3	729	c.236A>G	c.(235-237)gAa>gGa	p.E79G	DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000504396.1_Missense_Mutation_p.E27G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	79	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTACTTGAGTTCTCTGCTGAG	0.348																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(235-237)gAa>gGa		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						53	52	52					5																	79945214		2105	4260	6365	SO:0001583	missense	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945214T>C		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.236A>G	5.37:g.79945214T>C	ENSP00000396308:p.Glu79Gly					DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000504396.1_Missense_Mutation_p.E27G|DHFR_ENST00000513048.1_5'UTR	p.E79G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	729	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	79			DHFR.		B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	c.236A>G	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369248	0.42003	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.41	4.24	0.50183	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.63426	0.2510	L	0.53729	1.69	0.45318	D	0.998316	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.17979	0.02;0.001;0.001	T	0.56032	-0.8046	8	.	.	.	-2.3361	10.5451	0.45056	0.0:0.0781:0.0:0.9219	.	79;79;79	B4DM58;P00374;B0YJ76	.;DYR_HUMAN;.	G	79;79;79;27	ENSP00000396308:E79G;ENSP00000426474:E79G;ENSP00000422732:E79G;ENSP00000421334:E27G	.	E	-	2	0	DHFR	79980970	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.216000	0.58540	0.871000	0.35750	0.455000	0.32223	GAA		0.348	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		4	27	0	0	0	1	0	4	27					C	79945214	T	C	79945214	3	2	384	1	0	0	0	0	1	0	0	0	4481	1783	62	3	343	3	DHFR	5	79945214	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08	12353927	79945214	100970046	9	34715											
PCDHA7	56141	broad.mit.edu	37	chr5	140215321	140215321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgccccggcgttcgcgcagcc	14	16	0	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:140215321C>T	ENST00000525929.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	451	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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCCCCGGCGT	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1351-1353)aaC>aaT									65	69	68					5																	140215321		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140215321C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1353C>T	5.37:g.140215321C>T						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N	p.N451N	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1353	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1353C>T	CCDS54918.1																																																																																				0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		25	147	0	0	0	1	0	25	147					T	140215321	C	T	140215321	2	4	384	1	0	0	0	0	0	0	0	1	11529	535	19	1		1	PCDHA7	5	140215321	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	60270107	140215321	40699939	10	34716											
KCNIP1	30820	broad.mit.edu	37	chr5	170159832	170159832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacattgtcaaagccatctAtgacatgatggggaaataca	10	7	2	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:170159832A>G	ENST00000411494.1	+	7	497	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C|KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000328939.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	166	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCATCTATGACATGATG	0.488																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(463-465)tAt>tGt		Kv channel interacting protein 1							169	133	145					5																	170159832		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170159832A>G	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.497A>G	5.37:g.170159832A>G	ENSP00000395323:p.Tyr166Cys					KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000411494.1_Missense_Mutation_p.Y166C|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C	p.Y155C	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	1001	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	166			EF-hand 3.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.464A>G	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271517	0.80469	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.55	5.55	0.83447	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90135	0.4209	9	.	.	.	.	13.6537	0.62325	1.0:0.0:0.0:0.0	.	180;155;166;164	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	C	164;155;155;127;180;166	ENSP00000366577:Y164C;ENSP00000329686:Y155C;ENSP00000375071:Y155C;ENSP00000431102:Y127C;ENSP00000414886:Y180C;ENSP00000395323:Y166C	.	Y	+	2	0	KCNIP1	170092410	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.904000	0.92590	2.096000	0.63516	0.528000	0.53228	TAT		0.488	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			12	90	0	0	0	1	0	12	90					G	170159832	A	G	170159832	3	3	384	1	0	0	0	0	1	0	0	0	8039	449	16	3	615	3	KCNIP1	5	170159832	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08	29944511	170159832	10755428	11	34717											
LAMA2	3908	broad.mit.edu	37	chr6	129785592	129785592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatgtatcttgccacacgaGacctggtaaagatcatatgc	9	9	2	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr6:129785592G>T	ENST00000421865.2	+	50	7199	c.7150G>T	c.(7150-7152)Gac>Tac	p.D2384Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2384	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)		TGCCACACGAGACCTGGTAAA	0.408																																						ENST00000421865.2																			0				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						c.(7150-7152)Gac>Tac		laminin, alpha 2							228	192	204					6																	129785592		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129785592G>T	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.7150G>T	6.37:g.129785592G>T	ENSP00000400365:p.Asp2384Tyr						p.D2384Y	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	50	7199	+			2384			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7150G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607154	0.87157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.81078	-1.45	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81070	-0.1099	9	.	.	.	.	19.6113	0.95607	0.0:0.0:1.0:0.0	.	2385;2384	A6NF00;P24043	.;LAMA2_HUMAN	Y	2384;2383;2384;402	ENSP00000400365:D2384Y	.	D	+	1	0	LAMA2	129827285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.352000	0.97076	2.618000	0.88619	0.655000	0.94253	GAC		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			11	122	1	0	0.00244969	1	0.00257863	11	122					T	129785592	G	T	129785592	3	4	384	1	0	0	0	0	1	0	0	0	8606	942	33	4	7348	4	LAMA2	6	129785592	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		129785592	41329475	12	34718											
EIF2AK1	27102	broad.mit.edu	37	chr7	6094277	6094277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggtttgcaactgcaaaaggGaaggttggctgttgtagggg	17	4	0	0			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:6094277G>T	ENST00000199389.6	-	2	323	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RNU6-218P_ENST00000517120.1_RNA|EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	59					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)		CTGCAAAAGGGAAGGTTGGCT	0.398																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(175-177)ttC>ttA		eukaryotic translation initiation factor 2-alpha kinase 1							112	109	110					7																	6094277		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6094277G>T	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.177C>A	7.37:g.6094277G>T	ENSP00000199389:p.Phe59Leu					EIF2AK1_ENST00000536084.1_5'UTR	p.F59L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	2	323	-		Ovarian(82;0.0423)	59					A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.177C>A	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	16.81	3.225314	0.58668	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.12984	2.63;2.63	5.42	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.61703	1.905	0.80722	D	1	D;P	0.63046	0.992;0.858	P;B	0.56474	0.799;0.365	T	0.21484	-1.0244	10	0.10111	T	0.7	-22.9512	7.4712	0.27351	0.2348:0.1247:0.6405:0.0	.	59;59	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	L	59	ENSP00000199389:F59L;ENSP00000397590:F59L	ENSP00000199389:F59L	F	-	3	2	EIF2AK1	6060803	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.279000	0.33191	0.665000	0.31066	-0.254000	0.11334	TTC		0.398	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		22	119	1	0	5.35356e-11	1	5.9484e-11	22	119					T	6094277	G	T	6094277	3	4	384	1	0	0	0	0	1	0	0	0	4996	1165	41	4	1771	4	EIF2AK1	7	6094277	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		6094277	153044386	13	34719											
AZGP1	563	broad.mit.edu	37	chr7	99565785	99565785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagtgagtaccttgccgGtccaggatatttttgctgta	11	8	0	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:99565785G>A	ENST00000292401.4	-	3	742	c.606C>T	c.(604-606)gaC>gaT	p.D202D	AZGP1_ENST00000411734.1_Silent_p.D199D|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	202					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TACCTTGCCGGTCCAGGATAT	0.537																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(595-597)gaC>gaT		alpha-2-glycoprotein 1, zinc-binding							80	79	79					7																	99565785		2203	4300	6503	SO:0001819	synonymous_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565785G>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.606C>T	7.37:g.99565785G>A						AZGP1_ENST00000292401.4_Silent_p.D202D	p.D199D			P25311	ZA2G_HUMAN			3	602	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		202					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	c.597C>T	CCDS5680.1																																																																																				0.537	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		12	80	0	0	0	1	0	12	80					A	99565785	G	A	99565785	2	1	384	1	0	0	0	0	0	0	0	1	1239	1252	44	2		2	AZGP1	7	99565785	Silent	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	93471508	99565785	59572878	14	34720											
MATN2	4147	broad.mit.edu	37	chr8	98943235	98943235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcattgacagctctcGcagtgtcaacacccatgact	6	13	4	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:98943235G>A	ENST00000520016.1	+	2	321	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000254898.5_Missense_Mutation_p.R66H			O00339	MATN2_HUMAN	matrilin 2	66	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGCTCTCGCAGTGTCAAC	0.507																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(196-198)cGc>cAc		matrilin 2							65	64	64					8																	98943235		2022	4196	6218	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943235G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.197G>A	8.37:g.98943235G>A	ENSP00000430487:p.Arg66His					MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000520016.1_Missense_Mutation_p.R66H	p.R66H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	428	+	Breast(36;1.43e-06)		66			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.197G>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093693	0.94149	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.64	5.64	0.86602	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.88581	0.6475	M	0.74258	2.255	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89134	0.3512	10	0.87932	D	0	-32.4668	19.7059	0.96071	0.0:0.0:1.0:0.0	.	66;66;66	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	H	66	ENSP00000429977:R66H;ENSP00000254898:R66H;ENSP00000430221:R66H;ENSP00000430487:R66H	ENSP00000254898:R66H	R	+	2	0	MATN2	99012411	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.807000	0.99171	2.673000	0.90976	0.591000	0.81541	CGC		0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			3	35	0	0	0	1	0	3	35					A	98943235	G	A	98943235	3	1	384	1	0	0	0	0	1	0	0	0	9334	1087	38	1	203	1	MATN2	8	98943235	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		98943235	47420787	15	34721											
UTP23	84294	broad.mit.edu	37	chr8	117783984	117783984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggcaccggacacacAatcatctgcttctgaaaaga	8	10	3	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:117783984A>G	ENST00000309822.2	+	3	754	c.653A>G	c.(652-654)cAa>cGa	p.Q218R	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	218					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCGGACACACAATCATCTGCT	0.368																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(652-654)cAa>cGa		UTP23, small subunit (SSU) processome component, homolog (yeast)							41	45	43					8																	117783984		2197	4290	6487	SO:0001583	missense	84294				rRNA processing	nucleolus		g.chr8:117783984A>G		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.653A>G	8.37:g.117783984A>G	ENSP00000308332:p.Gln218Arg					UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron	p.Q218R	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			3	754	+			218					B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	c.653A>G	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	A	1.843	-0.467020	0.04476	.	.	ENSG00000147679	ENST00000309822	T	0.23754	1.89	5.96	3.53	0.40419	.	1.129380	0.06287	N	0.698434	T	0.26448	0.0646	L	0.45228	1.405	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.38023	-0.9680	10	0.21014	T	0.42	0.0049	14.2112	0.65767	0.456:0.5439:0.0:0.0	.	218	Q9BRU9	UTP23_HUMAN	R	218	ENSP00000308332:Q218R	ENSP00000308332:Q218R	Q	+	2	0	UTP23	117853165	0.004000	0.15560	0.002000	0.10522	0.307000	0.27823	1.439000	0.35013	0.473000	0.27368	0.533000	0.62120	CAA		0.368	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		8	66	0	0	0	1	0	8	66					G	117783984	A	G	117783984	3	3	384	1	0	0	0	0	1	0	0	0	17097	130	5	3	663	3	UTP23	8	117783984	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08	18840749	117783984	28580038	16	34722											
CEP110	11064	broad.mit.edu	37	chr9	123875999	123875999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagaaaaaaaaataagtGcaggttaaaaaaagttattt	6	2	0	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr9:123875999G>A	ENST00000373855.1	+	10	1602	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T	CNTRL_ENST00000238341.5_Missense_Mutation_p.A448T|CNTRL_ENST00000373865.2_Missense_Mutation_p.A448T			Q7Z7A1	CNTRL_HUMAN	centriolin	448					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						AAAAATAAGTGCAGGttaaaa	0.308																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1342-1344)Gca>Aca		centriolin							24	24	24					9																	123875999		2202	4293	6495	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875999G>A	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.1342G>A	9.37:g.123875999G>A	ENSP00000362962:p.Ala448Thr					CNTRL_ENST00000238341.5_Missense_Mutation_p.A448T|CNTRL_ENST00000373865.2_Missense_Mutation_p.A448T	p.A448T			Q7Z7A1	CNTRL_HUMAN			10	1602	+			448					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1342G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928865	0.52759	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.25749	1.78;1.78	6.16	3.22	0.36961	.	.	.	.	.	T	0.23532	0.0569	M	0.64997	1.995	0.34847	D	0.741257	B;B	0.14805	0.011;0.007	B;B	0.19946	0.027;0.007	T	0.14811	-1.0459	8	.	.	.	.	5.7362	0.18067	0.1549:0.0:0.5739:0.2711	.	448;448	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	T	448	ENSP00000362962:A448T;ENSP00000238341:A448T	.	A	+	1	0	CNTRL	122915820	0.372000	0.25064	0.955000	0.39395	0.888000	0.51559	0.178000	0.16820	0.405000	0.25532	0.650000	0.86243	GCA		0.308	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	34	0	0	0	1	0	8	34					A	123875999	G	A	123875999	3	1	384	1	0	0	0	0	1	0	0	0	3245	1319	46	2	1372	2	CEP110	9	123875999	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		123875999	17337432	17	34723											
PTEN	5728	broad.mit.edu	37	chr10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A													acaaggaatatctagtacttINSactttaacaaaaaatgatct					rs398123330		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		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.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(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)		ATCTAGTACTTACTTTAACAAA	0.327		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		121	Deletion - Frameshift(70)|Whole gene deletion(37)|Deletion - In frame(6)|Insertion - Frameshift(6)|Unknown(2)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)	endometrium(38)|central_nervous_system(29)|prostate(17)|skin(8)|breast(7)|ovary(6)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	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	GRCh37	CD972424|CI075686	PTEN	D|I	rs146650273	c.(952-957)ctctttfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720803_89720804insA	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.955dupA	10.37:g.89720804_89720804dupA	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.F319fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	8	2311_2312	+		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)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.954_955insA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		23	69						23	69	---	---	---	---	A	89720804	-	A	89720803	7	5	384	1	0	1	1	0	0	0	0	0	12738	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Ins	INS	-	TCGA-QH-A6CS-01A-11D-A31L-08		89720803	45813944	18	34724											
PAX6	5080	broad.mit.edu	37	chr11	31815030	31815030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaagctgggcataggcgGcagagcgctgtaggtgtttg	19	6	0	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:31815030G>A	ENST00000379132.3	-	10	1268	c.988C>T	c.(988-990)Ccg>Tcg	p.P330S	PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S|PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000419022.1_Missense_Mutation_p.P344S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S			P26367	PAX6_HUMAN	paired box 6	330	Pro/Ser/Thr-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)					GGCATAGGCGGCAGAGCGCTG	0.557									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(1030-1032)Ccg>Tcg		paired box 6							142	147	145					11																	31815030		2202	4299	6501	SO:0001583	missense	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815030G>A	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.988C>T	11.37:g.31815030G>A	ENSP00000368427:p.Pro330Ser					PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000379132.3_Missense_Mutation_p.P330S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S	p.P344S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			12	1498	-	Lung SC(675;0.225)		330			Pro/Ser/Thr-rich.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.1030C>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319683	0.95682	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.0;-3.29;-2.94;-3.29;-3.29;-3.29;-3.29;-2.76;-2.76;-3.29;-3.02	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	L	0.50919	1.6	0.80722	D	1	D;D	0.58268	0.982;0.981	P;P	0.53518	0.637;0.728	D	0.92537	0.6038	10	0.31617	T	0.26	.	19.9866	0.97352	0.0:0.0:1.0:0.0	.	344;330	F1T0F8;P26367	.;PAX6_HUMAN	S	344;330;344;159;344;129;330;344;330;330;194;194;330;285	ENSP00000404100:P344S;ENSP00000368427:P330S;ENSP00000368424:P344S;ENSP00000451885:P159S;ENSP00000368401:P344S;ENSP00000431961:P129S;ENSP00000241001:P330S;ENSP00000368410:P344S;ENSP00000368406:P330S;ENSP00000368418:P330S;ENSP00000451901:P194S;ENSP00000450775:P194S;ENSP00000368403:P330S;ENSP00000451372:P285S	ENSP00000241001:P330S	P	-	1	0	PAX6	31771606	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.426000	0.97469	2.698000	0.92095	0.643000	0.83706	CCG		0.557	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		4	171	0	0	0	1	0	4	171					A	31815030	G	A	31815030	3	1	384	1	0	0	0	0	1	0	0	0	11483	1203	42	2	292	2	PAX6	11	31815030	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		31815030	103191486	19	34725											
CCDC53	51019	broad.mit.edu	37	chr12	102433745	102433745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtagtccagagtcttgTgtactgttctgctgtagaga	11	8	2	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:102433745T>C	ENST00000240079.6	-	5	497	c.336A>G	c.(334-336)acA>acG	p.T112T	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Silent_p.T111T	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	112						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAGAGTCTTGTGTACTGTTCT	0.358																																						ENST00000240079.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(334-336)acA>acG		coiled-coil domain containing 53							188	171	176					12																	102433745		1841	4110	5951	SO:0001819	synonymous_variant	51019					WASH complex	protein binding	g.chr12:102433745T>C	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.336A>G	12.37:g.102433745T>C						CCDC53_ENST00000545679.1_Silent_p.T111T|CCDC53_ENST00000539515.1_5'UTR	p.T112T	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN			5	497	-			112					B2RC74|Q53FF0|Q6IAI4|Q96QK0	Silent	SNP	ENST00000240079.6	37	c.336A>G	CCDS44959.1																																																																																				0.358	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		12	67	0	0	0	1	0	12	67					C	102433745	T	C	102433745	2	2	384	1	0	0	0	0	0	0	0	1	2823	1683	59	3		3	CCDC53	12	102433745	Silent	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		102433745	31418150	20	34726											
C12orf51	283450	broad.mit.edu	37	chr12	112600941	112600941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaggtgaacgggatgCgctcctggttgcaggcaaac	17	9	0	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:112600941C>T	ENST00000430131.2	-	74	12904	c.11759G>A	c.(11758-11760)cGc>cAc	p.R3920H	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4196H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3920	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)	p.R4170H(1)|p.R3920H(1)									GAACGGGATGCGCTCCTGGTT	0.612																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.R4170H(1)|p.R3920H(1)	large_intestine(2)								c.(12586-12588)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							97	110	106					12																	112600941		2080	4205	6285	SO:0001583	missense	283450							g.chr12:112600941C>T	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.11759G>A	12.37:g.112600941C>T	ENSP00000404379:p.Arg3920His					HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H	p.R4196H	NM_001109662.3	NP_001103132.3					75	12982	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.12587G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.491109	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85041	0.0923	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	3920	Q9Y4D8	K0614_HUMAN	H	4170;3920;4196;385	ENSP00000366783:R4170H;ENSP00000404379:R3920H;ENSP00000449784:R4196H	ENSP00000366783:R4170H	R	-	2	0	C12orf51	111085324	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.372000	0.79612	2.758000	0.94735	0.561000	0.74099	CGC		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	166	0	0	0	1	0	4	166					T	112600941	C	T	112600941	3	4	384	1	0	0	0	0	1	0	0	0	1696	768	27	1	239	1	C12orf51	12	112600941	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	10167196	112600941	21250954	21	34727											
HERC2	8924	broad.mit.edu	37	chr15	28478677	28478677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcaataccaagtgcaCctgcatgaactaaagataat	6	10	1	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr15:28478677C>T	ENST00000261609.7	-	29	4490	c.4382G>A	c.(4381-4383)gGt>gAt	p.G1461D		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)		ACCAAGTGCACCTGCATGAAC	0.423																																						ENST00000261609.7																			0				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						c.(4381-4383)gGt>gAt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							63	60	61					15																	28478677		2202	4294	6496	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478677C>T	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.4382G>A	15.37:g.28478677C>T	ENSP00000261609:p.Gly1461Asp						p.G1461D	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	29	4490	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1461						Missense_Mutation	SNP	ENST00000261609.7	37	c.4382G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	c	1.612	-0.523736	0.04141	.	.	ENSG00000128731	ENST00000261609	T	0.37235	1.21	4.22	3.22	0.36961	.	0.260709	0.37955	N	0.001875	T	0.25158	0.0611	L	0.36672	1.1	0.43259	D	0.995191	B	0.29085	0.232	B	0.29440	0.102	T	0.03566	-1.1024	10	0.15066	T	0.55	.	10.7491	0.46198	0.143:0.7176:0.1394:0.0	.	1461	O95714	HERC2_HUMAN	D	1461	ENSP00000261609:G1461D	ENSP00000261609:G1461D	G	-	2	0	HERC2	26152272	0.819000	0.29175	0.295000	0.24960	0.230000	0.25150	2.567000	0.45956	2.353000	0.79882	0.645000	0.84053	GGT		0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	79	0	0	0	1	0	15	79					T	28478677	C	T	28478677	3	4	384	1	0	0	0	0	1	0	0	0	7058	507	18	2	10382	2	HERC2	15	28478677	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		28478677	74052715	22	34728											
NF1	4763	broad.mit.edu	37	chr17	29652974	29652974	+	Frame_Shift_Del	DEL	T	T	-													gcaatcgctttaaaacagacTttctctctaagtggtttgtt							TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:29652974delT	ENST00000358273.4	+	37	5355	c.4972delT	c.(4972-4974)tttfs	p.F1658fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				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.?(3)	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)		TAAAACAGACTTTCTCTCTAA	0.418			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(4972-4974)ttfs		neurofibromin 1							154	141	145					17																	29652974		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652974delT		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.4972delT	17.37:g.29652974delT	ENSP00000351015:p.Phe1658fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs|NF1_ENST00000581113.2_3'UTR	p.F1658fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	37	5355	+		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)	1658			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4972delT	CCDS42292.1																																																																																				0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		22	92						22	92	---	---	---	---	-	29652974	T	-	29652974	7	5	384	1	0	1	0	1	0	0	0	0	10356	1609	56	0	5179	0	NF1	17	29652974	Frame_Shift_Del	DEL	T	TCGA-QH-A6CS-01A-11D-A31L-08		29652974	51542236	23	34729											
GALR2	8811	broad.mit.edu	37	chr17	74071243	74071243	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctggacggctgggtgttCggctcgctgctgtgcaaggc	16	12	0	0			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:74071243C>T	ENST00000329003.3	+	1	369	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	93					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGGTGTTCGGCTCGCTGC	0.632																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(277-279)ttC>ttT		galanin receptor 2							121	84	96					17																	74071243		2203	4300	6503	SO:0001819	synonymous_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071243C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.279C>T	17.37:g.74071243C>T							p.F93F	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			1	369	+			93					A5JUU4|Q32MN8	Silent	SNP	ENST00000329003.3	37	c.279C>T	CCDS11739.1																																																																																				0.632	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			11	101	0	0	0	1	0	11	101					T	74071243	C	T	74071243	2	4	384	1	0	0	0	0	0	0	0	1	6228	883	31	1		1	GALR2	17	74071243	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	44418269	74071243	7123967	24	34730											
SHANK1	50944	broad.mit.edu	37	chr19	51190015	51190015	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttactgagagccatctgaTacacggtccgctttttctcc	7	13	3	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:51190015T>C	ENST00000293441.1	-	19	2462	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C|SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C|SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	815					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCCATCTGATACACGGTCCG	0.687																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2443-2445)tAt>tGt		SH3 and multiple ankyrin repeat domains 1							47	46	46					19																	51190015		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51190015T>C	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2444A>G	19.37:g.51190015T>C	ENSP00000293441:p.Tyr815Cys					SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C|SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C|SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C	p.Y815C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	19	2462	-		all_neural(266;0.057)	815					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2444A>G	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.825907	0.50739	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	3.43	3.43	0.39272	.	0.740232	0.11673	U	0.540654	T	0.56093	0.1962	L	0.47716	1.5	0.49687	D	0.99981	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50466	-0.8825	10	0.45353	T	0.12	-5.0535	11.2886	0.49237	0.0:0.0:0.0:1.0	.	815;202	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	815;202;806;823	ENSP00000293441:Y815C;ENSP00000375689:Y202C;ENSP00000351984:Y806C;ENSP00000375690:Y823C	ENSP00000293441:Y815C	Y	-	2	0	SHANK1	55881827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.680000	0.61656	1.562000	0.49601	0.391000	0.25812	TAT		0.687	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	55	0	0	0	1	0	4	55					C	51190015	T	C	51190015	3	2	384	1	0	0	0	0	1	0	0	0	14264	1406	49	3	4061	3	SHANK1	19	51190015	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		51190015	7938968	25	34731											
BCAS4	55653	broad.mit.edu	37	chr20	49446838	49446838	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggagtgatacttcacagaTcctggaggaaaacatcccag	10	10	1	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:49446838T>A	ENST00000358791.5	+	3	375	c.275T>A	c.(274-276)aTc>aAc	p.I92N	BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N|BCAS4_ENST00000609336.1_Missense_Mutation_p.I62N|BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000485049.1_3'UTR	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	92						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACTTCACAGATCCTGGAGGAA	0.532																																						ENST00000358791.5																			0				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(274-276)aTc>aAc		breast carcinoma amplified sequence 4							137	111	120					20																	49446838		2203	4300	6503	SO:0001583	missense	55653					cytoplasm		g.chr20:49446838T>A	AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.275T>A	20.37:g.49446838T>A	ENSP00000351642:p.Ile92Asn					BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N|BCAS4_ENST00000485049.1_3'UTR	p.I92N	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN			3	375	+			92					Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	c.275T>A	CCDS33487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.20|18.20	3.570761|3.570761	0.65765|0.65765	.|.	.|.	ENSG00000124243|ENSG00000124243	ENST00000358791;ENST00000262591;ENST00000355583;ENST00000371608|ENST00000445038	T;T;T|.	0.51071|.	1.73;0.72;0.78|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.195984|.	0.43416|.	N|.	0.000566|.	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.59436|0.59436	1.845|1.845	0.30927|0.30927	N|N	0.727335|0.727335	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.998|.	T|T	0.58446|0.58446	-0.7635|-0.7635	10|5	0.87932|.	D|.	0|.	-21.2124|-21.2124	11.38|11.38	0.49752|0.49752	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	92;92;92;92|.	Q8TDM0-2;Q8TDM0-3;Q8TDM0;F8WE92|.	.;.;BCAS4_HUMAN;.|.	N|T	92|67	ENSP00000351642:I92N;ENSP00000262591:I92N;ENSP00000360669:I92N|.	ENSP00000262591:I92N|.	I|S	+|+	2|1	0|0	BCAS4|BCAS4	48880245|48880245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.697000|0.697000	0.40408|0.40408	2.291000|2.291000	0.43540|0.43540	1.944000|1.944000	0.56390|0.56390	0.533000|0.533000	0.62120|0.62120	ATC|TCC		0.532	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		10	71	0	0	0	1	0	10	71					A	49446838	T	A	49446838	3	1	384	1	0	0	0	0	1	0	0	0	1353	1435	50	5	285	5	BCAS4	20	49446838	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		49446838	13578682	26	34732											
ZFP64	55734	broad.mit.edu	37	chr20	50776664	50776664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataacaggcaggactcacccGtgtgggatcgcaggtggaca	14	10	1	0			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:50776664G>A	ENST00000216923.4	-	5	1110	c.761C>T	c.(760-762)aCg>aTg	p.T254M	ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGACTCACCCGTGTGGGATCG	0.532																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(760-762)aCg>aTg		ZFP64 zinc finger protein							142	142	142					20																	50776664		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776664G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.761C>T	20.37:g.50776664G>A	ENSP00000216923:p.Thr254Met					ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M	p.T254M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			5	1110	-			254					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.761C>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156564	0.94686	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.26373	3.05;3.05;1.74;1.74;1.74	6.17	6.17	0.99709	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.64402	D	0.000019	T	0.60856	0.2301	M	0.86502	2.82	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;1.0;0.999;0.998	T	0.63743	-0.6568	10	0.87932	D	0	-15.4612	20.8794	0.99867	0.0:0.0:1.0:0.0	.	200;252;254;254	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	M	254;254;254;200;252;96;407	ENSP00000360573:T254M;ENSP00000355179:T254M;ENSP00000216923:T254M;ENSP00000344615:T200M;ENSP00000360570:T252M	ENSP00000216923:T254M	T	-	2	0	ZFP64	50210071	1.000000	0.71417	0.975000	0.42487	0.840000	0.47671	9.623000	0.98386	2.941000	0.99782	0.655000	0.94253	ACG		0.532	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		30	146	0	0	0	1	0	30	146					A	50776664	G	A	50776664	3	1	384	1	0	0	0	0	1	0	0	0	17649	1145	40	1	2483	1	ZFP64	20	50776664	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	1329826	50776664	12248856	27	34733											
PDE9A	5152	broad.mit.edu	37	chr21	44190886	44190886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctacgaggagctgaagcGgatagatgacgccatgaaag	14	8	0	4	rs150892798		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr21:44190886G>A	ENST00000291539.6	+	18	1724	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	555					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)	GAGCTGAAGCGGATAGATGAC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20843	0.0		0.0	False		,,,				2504	0.0					ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1663-1665)cGg>cAg		phosphodiesterase 9A		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	8.1+/-20.4	0,3,2200	140	113	122		1484,1283,1280,1505,1361,1043,1043,1406,1184,1013,1262,1358,1043,1013,1463,1541,1586,1043,1043,1664	2.3	0.4	21	dbSNP_134	122	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	495/534,428/467,427/466,502/541,454/493,348/387,348/387,469/508,395/434,338/377,421/460,453/492,348/387,338/377,488/527,514/553,529/568,348/387,348/387,555/594	44190886	3,13003	2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44190886G>A	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.1664G>A	21.37:g.44190886G>A	ENSP00000291539:p.Arg555Gln					PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q|PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q	p.R555Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			18	1724	+			555					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1664G>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	0.119	-1.128235	0.01770	6.81E-4	0.0	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	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.64	2.26	0.28386	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.230720	0.38605	N	0.001636	T	0.39572	0.1083	N	0.01874	-0.695	0.32775	N	0.503275	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.005;0.0;0.0;0.003;0.003;0.002;0.0;0.0;0.0;0.0;0.0;0.002;0.002;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.0;0.0	T	0.45614	-0.9249	10	0.02654	T	1	.	7.9587	0.30057	0.8347:0.0:0.1653:0.0	.	488;469;454;529;514;447;495;338;395;421;427;453;502;428;555	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	Q	495;427;555;502;488;454;469;529;453;514;421;395;427;428	ENSP00000335242:R495Q;ENSP00000441899:R427Q;ENSP00000291539:R555Q;ENSP00000369685:R502Q;ENSP00000381287:R488Q;ENSP00000381289:R454Q;ENSP00000381291:R469Q;ENSP00000328699:R529Q;ENSP00000335365:R453Q;ENSP00000381281:R514Q;ENSP00000381285:R421Q;ENSP00000381283:R395Q;ENSP00000344730:R427Q;ENSP00000381280:R428Q	ENSP00000291539:R555Q	R	+	2	0	PDE9A	43063955	1.000000	0.71417	0.407000	0.26434	0.019000	0.09904	5.486000	0.66856	0.251000	0.21505	0.557000	0.71058	CGG		0.557	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			3	70	0	0	0	1	0	3	70					A	44190886	G	A	44190886	3	1	384	1	0	0	0	0	1	0	0	0	11655	1116	39	1	1814	1	PDE9A	21	44190886	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		44190886	3939009	28	34734											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	86	0	0	0	1	0	4	86					G	37028425	A	G	37028425	3	3	384	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08		37028425	118242135	29	34735											
F8	2157	broad.mit.edu	37	chrX	154130442	154130442	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccactgtctcaaaaacaCcttataaaaaccaacaggaa	3	11	1	0			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:154130442C>T	ENST00000360256.4	-	19	6199	c.5999G>A	c.(5998-6000)gGt>gAt	p.G2000D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2000	F5/8 type A 3.|Plastocyanin-like 6.		G -> A (in HEMA; moderate-severe). {ECO:0000269|PubMed:10896236}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCAAAAACACCTTATAAAAA	0.378																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM003815|CS063308	F8	M|S		c.e19-1		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						92	81	85					X																	154130442		2203	4300	6503	SO:0001630	splice_region_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154130442C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5999-1G>A	X.37:g.154130442C>T							p.G2000_splice	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			19	6199	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2000		G -> A (in HEMA; moderate-severe).	F5/8 type A 3.|Plastocyanin-like 6.		Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	c.5998_splice	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247317	0.80024	.	.	ENSG00000185010	ENST00000360256	D	0.99859	-7.24	4.85	4.85	0.62838	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96345	0.9254	10	0.87932	D	0	.	14.3418	0.66633	0.0:1.0:0.0:0.0	.	2000	P00451	FA8_HUMAN	D	2000	ENSP00000353393:G2000D	ENSP00000353393:G2000D	G	-	2	0	F8	153783636	1.000000	0.71417	0.774000	0.31636	0.908000	0.53690	6.546000	0.73887	2.334000	0.79466	0.538000	0.68166	GGT		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Missense_Mutation	17	25	0	0	0	1	0	17	25					T	154130442	C	T	154130442	5	4	384	1	0	0	0	0	0	0	1	0	5350	521	18	2	1116	2	F8	23	154130442	Splice_Site	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	117102017	154130442	1140118	30	34736											
LRRC41	10489	broad.mit.edu	37	chr1	46752046	46752046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgtcggacatggcgGgagctgtgcagaagaggtga	19	6	0	4			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr1:46752046G>A	ENST00000343304.6	-	4	768	c.483C>T	c.(481-483)tcC>tcT	p.S161S	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	161					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)					GGACATGGCGGGAGCTGTGCA	0.567																																						ENST00000343304.6																			0				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						c.(481-483)tcC>tcT		leucine rich repeat containing 41							64	66	65					1																	46752046		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46752046G>A	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.483C>T	1.37:g.46752046G>A						LRRC41_ENST00000472710.1_5'UTR	p.S161S	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	768	-	Acute lymphoblastic leukemia(166;0.155)		161					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.483C>T	CCDS533.1																																																																																				0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		3	45	0	0	0	1	0	3	45					A	46752046	G	A	46752046	2	1	385	1	0	0	0	0	0	0	0	1	8999	1219	43	2		2	LRRC41	1	46752046	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		46752046	202498575	1	34737											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	52	0	0	0	1	0	22	52					T	209113112	C	T	209113112	3	4	385	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		209113112	34086261	2	34738											
ADAMTS9	56999	broad.mit.edu	37	chr3	64547306	64547306	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggacaccgtgggccttggCagtcgcgttccgactccggt	16	13	0	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr3:64547306C>A	ENST00000498707.1	-	30	4988	c.4646G>T	c.(4645-4647)tGc>tTc	p.C1549F	ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000601022.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1549	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGGCCTTGGCAGTCGCGTTC	0.577																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4645-4647)tGc>tTc		ADAM metallopeptidase with thrombospondin type 1 motif, 9							172	157	162					3																	64547306		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64547306C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4646G>T	3.37:g.64547306C>A	ENSP00000418735:p.Cys1549Phe					ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F	p.C1549F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	30	4988	-		Lung NSC(201;0.00682)	1549			TSP type-1 12.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4646G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.366663|4.366663	0.82463|0.82463	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|D;D	.|0.81739	.|-1.53;-1.53	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94810|0.94810	0.8324|0.8324	H|H	0.99273|0.99273	4.495|4.495	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.998;1.0	D|D	0.96716|0.96716	0.9529|0.9529	5|10	.|0.87932	.|D	.|0	.|.	19.8437|19.8437	0.96701|0.96701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1521;1549;1549	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	S|F	605|1521;1549	.|ENSP00000295903:C1521F;ENSP00000418735:C1549F	.|ENSP00000295903:C1521F	A|C	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64522346|64522346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	4.465000|4.465000	0.60141|0.60141	2.693000|2.693000	0.91896|0.91896	0.585000|0.585000	0.79938|0.79938	GCC|TGC		0.577	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			38	96	1	0	2.75727e-19	1	2.9296e-19	38	96					A	64547306	C	A	64547306	3	1	385	1	0	0	0	0	1	0	0	0	273	710	25	4	1201	4	ADAMTS9	3	64547306	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		64547306	133475124	3	34739											
OR2Y1	134083	broad.mit.edu	37	chr5	180166535	180166535	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggcatctcacagaagaagTgattcagtcgatggccacag	11	10	2	3			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr5:180166535T>A	ENST00000307832.2	-	1	564	c.524A>T	c.(523-525)cAc>cTc	p.H175L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	175						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)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGAAGAAGTGATTCAGTCG	0.542																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(523-525)cAc>cTc		olfactory receptor, family 2, subfamily Y, member 1							65	57	60					5																	180166535		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166535T>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"GPCR / Class A : Olfactory receptors"	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.524A>T	5.37:g.180166535T>A	ENSP00000312403:p.His175Leu						p.H175L	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	564	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	175					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.524A>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	t	13.69	2.313066	0.40895	.	.	ENSG00000174339	ENST00000307832	T	0.00183	8.6	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.526148	0.17374	N	0.176549	T	0.00815	0.0027	H	0.94462	3.54	0.28687	N	0.904801	D	0.89917	1.0	D	0.91635	0.999	T	0.07271	-1.0781	10	0.87932	D	0	.	11.9052	0.52708	0.0:0.0:0.0:1.0	.	175	Q8NGV0	OR2Y1_HUMAN	L	175	ENSP00000312403:H175L	ENSP00000312403:H175L	H	-	2	0	OR2Y1	180099141	1.000000	0.71417	0.986000	0.45419	0.003000	0.03518	3.822000	0.55708	1.968000	0.57251	0.418000	0.28097	CAC		0.542	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		5	53	0	0	0	1	0	5	53					A	180166535	T	A	180166535	3	1	385	1	0	0	0	0	1	0	0	0	11035	1696	59	5	415	5	OR2Y1	5	180166535	Missense_Mutation	SNP	T	TCGA-QH-A6CU-01A-11D-A31L-08		180166535	748725	4	34740											
RREB1	6239	broad.mit.edu	37	chr6	7232039	7232039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgctgagggccaagcGgaactcgtacaccaactgcc	11	14	0	1	rs374868150		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr6:7232039G>A	ENST00000349384.6	+	10	4021	c.3707G>A	c.(3706-3708)cGg>cAg	p.R1236Q	RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q|RREB1_ENST00000379938.2_Missense_Mutation_p.R1236Q	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1236					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)				AGGGCCAAGCGGAACTCGTAC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16603	0.0		0.0	False		,,,				2504	0.0					ENST00000379938.2																			0				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						c.(3706-3708)cGg>cAg		ras responsive element binding protein 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	72	49	57		3707,3707,3707,3707	4.4	0.9	6		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1236/1688,1236/1743,1236/1477,1236/1688	7232039	1,13005	2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232039G>A	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.3707G>A	6.37:g.7232039G>A	ENSP00000305560:p.Arg1236Gln					RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q	p.R1236Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4244	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1236					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3707G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155779	0.78114	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.12465	2.68;2.86;2.68;2.74	5.33	4.44	0.53790	.	0.000000	0.56097	D	0.000036	T	0.15478	0.0373	L	0.59436	1.845	0.39849	D	0.973211	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.77557	0.905;0.805;0.99	T	0.08994	-1.0695	10	0.02654	T	1	-29.5291	15.7454	0.77936	0.0:0.137:0.863:0.0	.	1236;1236;1236	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	Q	1236	ENSP00000369265:R1236Q;ENSP00000369270:R1236Q;ENSP00000305560:R1236Q;ENSP00000335574:R1236Q	ENSP00000335574:R1236Q	R	+	2	0	RREB1	7177038	1.000000	0.71417	0.872000	0.34217	0.751000	0.42716	7.062000	0.76706	1.178000	0.42870	0.655000	0.94253	CGG		0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			24	49	0	0	0	1	0	24	49					A	7232039	G	A	7232039	3	1	385	1	0	0	0	0	1	0	0	0	13679	1116	39	1	3733	1	RREB1	6	7232039	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		7232039	163883028	5	34741											
SLC39A14	23516	broad.mit.edu	37	chr8	22273317	22273317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccattatgcctctgagtcGcttccctccaagaaggacca	8	14	1	2	rs140196421		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:22273317G>A	ENST00000381237.1	+	6	905	c.786G>A	c.(784-786)tcG>tcA	p.S262S	SLC39A14_ENST00000289952.5_Silent_p.S262S|SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	262					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)		CCTCTGAGTCGCTTCCCTCCA	0.552																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(784-786)tcG>tcA		solute carrier family 39 (zinc transporter), member 14		G	,,,	1,4405	2.1+/-5.4	0,1,2202	78	64	69		786,786,786,786	-11.3	0	8	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC39A14	NM_001128431.2,NM_001135153.1,NM_001135154.1,NM_015359.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	262/493,262/493,262/482,262/493	22273317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273317G>A	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.786G>A	8.37:g.22273317G>A						SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S|SLC39A14_ENST00000289952.5_Silent_p.S262S	p.S262S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	6	905	+			262					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	ENST00000381237.1	37	c.786G>A	CCDS47823.1																																																																																				0.552	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		7	73	0	0	0	1	0	7	73					A	22273317	G	A	22273317	2	1	385	1	0	0	0	0	0	0	0	1	14617	1074	38	1		1	SLC39A14	8	22273317	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		22273317	124090705	6	34742											
MTBP	27085	broad.mit.edu	37	chr8	121528321	121528321	+	Frame_Shift_Del	DEL	A	A	-													ccatctcctgtagtttcgtcAgatcctggaagtgtccctga							TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:121528321delA	ENST00000305949.1	+	18	2181	c.2136delA	c.(2134-2136)tcafs	p.S712fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	712	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAGTTTCGTCAGATCCTGGAA	0.423																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2134-2136)tcfs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							107	101	103					8																	121528321		2203	4299	6502	SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121528321delA		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2136delA	8.37:g.121528321delA	ENSP00000303398:p.Ser712fs						p.S712fs	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2181	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		712			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Frame_Shift_Del	DEL	ENST00000305949.1	37	c.2136delA	CCDS6333.1																																																																																				0.423	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		33	93						33	93	---	---	---	---	-	121528321	A	-	121528321	7	5	385	1	0	1	0	1	0	0	0	0	9912	175	7	0	2206	0	MTBP	8	121528321	Frame_Shift_Del	DEL	A	TCGA-QH-A6CU-01A-11D-A31L-08	99255004	121528321	24835701	7	34743											
IFNA21	3452	broad.mit.edu	37	chr9	21166376	21166376	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctggatcatctcatggaggAcagagatggcttgagccttc	13	9	2	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr9:21166376A>T	ENST00000380225.1	-	1	283	c.236T>A	c.(235-237)gTc>gAc	p.V79D		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	79					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)		CTCATGGAGGACAGAGATGGC	0.478																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(235-237)gTc>gAc		interferon, alpha 21							107	107	107					9																	21166376		2203	4297	6500	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166376A>T		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.236T>A	9.37:g.21166376A>T	ENSP00000369574:p.Val79Asp						p.V79D	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	283	-			79					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.236T>A	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	16.75	3.209090	0.58343	.	.	ENSG00000137080	ENST00000380225	T	0.05717	3.4	4.02	2.88	0.33553	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.27629	0.0679	M	0.93854	3.465	0.18873	N	0.999987	D	0.57257	0.979	D	0.64595	0.927	T	0.11108	-1.0601	10	0.87932	D	0	.	7.1583	0.25649	0.8945:0.0:0.1055:0.0	.	79	P01568	IFN21_HUMAN	D	79	ENSP00000369574:V79D	ENSP00000369574:V79D	V	-	2	0	IFNA21	21156376	0.001000	0.12720	0.006000	0.13384	0.259000	0.26198	0.683000	0.25349	0.615000	0.30124	0.524000	0.50904	GTC		0.478	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		54	106	0	0	0	1	0	54	106					T	21166376	A	T	21166376	3	4	385	1	0	0	0	0	1	0	0	0	7538	275	10	5	337	5	IFNA21	9	21166376	Missense_Mutation	SNP	A	TCGA-QH-A6CU-01A-11D-A31L-08		21166376	120047055	8	34744											
ITIH5	80760	broad.mit.edu	37	chr10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtcaatcagtttggcgGcattgttcctggcaaaccag	10	13	2	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					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						CAGTTTGGCGGCATTGTTCCT	0.522																																						ENST00000256861.6																			0				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						c.(2731-2733)gCc>gTc		inter-alpha-trypsin inhibitor heavy chain family, member 5							194	155	168					10																	7605143		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605143G>A			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.2732C>T	10.37:g.7605143G>A	ENSP00000256861:p.Ala911Val					ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V	p.A911V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			14	2810	-			911					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2732C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191492	0.94923	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02280	4.56;4.36;4.38	5.79	5.79	0.91817	.	0.103793	0.64402	D	0.000002	T	0.13670	0.0331	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.929;0.968	T	0.00025	-1.2315	9	0.72032	D	0.01	-26.4128	20.0275	0.97527	0.0:0.0:1.0:0.0	.	911;697	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	911;697;693	ENSP00000256861:A911V;ENSP00000298441:A697V;ENSP00000387969:A693V	ENSP00000256861:A911V	A	-	2	0	ITIH5	7645149	1.000000	0.71417	0.905000	0.35620	0.802000	0.45316	9.282000	0.95840	2.737000	0.93849	0.650000	0.86243	GCC		0.522	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	178	0	0	0	1	0	4	178					A	7605143	G	A	7605143	3	1	385	1	0	0	0	0	1	0	0	0	7907	1203	42	2	142	2	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		7605143	127929604	9	34745											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-													ctcagcccgcggcagccgctGcagcagcggcagtggcagca					rs551280800		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(850-870)del		zinc finger, MIZ-type containing 1																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.850_870delGCAGCAGCGGCAGTGGCAGCA	10.37:g.81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENSP00000334474:p.Ala284_Ala290del					ZMIZ1_ENST00000478357.1_3'UTR	p.AAAAVAA284del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1422_1442	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		284			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.850_870delGCAGCAGCGGCAGTGGCAGCA	CCDS7357.1																																																																																				0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	167						9	167	---	---	---	---	-	81052026	GCAGCAGCGGCAGTGGCAGCA	-	81052006	7	5	385	1	0	1	0	1	0	0	0	0	17693	1319	46	0	876	0	ZMIZ1	10	81052006	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	TCGA-QH-A6CU-01A-11D-A31L-08	73446863	81052006	54482741	10	34746											
TCN1	6947	broad.mit.edu	37	chr11	59630180	59630180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatcaaggcaagctctcccGagcttacatctgacactgaa	7	12	3	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr11:59630180G>A	ENST00000257264.3	-	3	379	c.275C>T	c.(274-276)tCg>tTg	p.S92L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	92	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)	AAGCTCTCCCGAGCTTACATC	0.388																																						ENST00000257264.3																			0				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						c.(274-276)tCg>tTg		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						101	96	98					11																	59630180		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630180G>A	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.275C>T	11.37:g.59630180G>A	ENSP00000257264:p.Ser92Leu					TCN1_ENST00000532419.1_5'UTR	p.S92L	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			3	379	-		all_epithelial(135;0.198)	92					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.275C>T	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435072	0.43224	.	.	ENSG00000134827	ENST00000257264	T	0.41065	1.01	5.53	5.53	0.82687	.	0.000000	0.52532	D	0.000074	T	0.62841	0.2461	M	0.74881	2.28	0.28540	N	0.912144	D	0.89917	1.0	D	0.91635	0.999	T	0.58725	-0.7586	10	0.24483	T	0.36	.	14.9469	0.71039	0.0:0.0:1.0:0.0	.	92	P20061	TCO1_HUMAN	L	92	ENSP00000257264:S92L	ENSP00000257264:S92L	S	-	2	0	TCN1	59386756	0.851000	0.29673	0.193000	0.23327	0.046000	0.14306	2.758000	0.47565	2.584000	0.87258	0.650000	0.86243	TCG		0.388	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		33	59	0	0	0	1	0	33	59					A	59630180	G	A	59630180	3	1	385	1	0	0	0	0	1	0	0	0	15703	1059	37	1	1054	1	TCN1	11	59630180	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		59630180	75376336	11	34747											
MAGOHB	55110	broad.mit.edu	37	chr12	10763280	10763280	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggcatatctaagctttcCtgtgggaagtggaaaaaaat	11	5	1	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:10763280C>A	ENST00000320756.2	-	2	185		c.e2-1		MAGOHB_ENST00000381881.2_Splice_Site|MAGOHB_ENST00000539554.1_Splice_Site	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)						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						CTAAGCTTTCCTGTGGGAAGT	0.259																																						ENST00000320756.2																			0				breast(2)|large_intestine(2)	4						c.e2-1		mago-nashi homolog B (Drosophila)							68	57	61					12																	10763280		2203	4294	6497	SO:0001630	splice_region_variant	55110				mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding	g.chr12:10763280C>A		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.95-1G>T	12.37:g.10763280C>A						MAGOHB_ENST00000381881.2_Splice_Site|MAGOHB_ENST00000539554.1_Splice_Site		NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN			2	185	-									Splice_Site	SNP	ENST00000320756.2	37		CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267106	0.59540	.	.	ENSG00000111196	ENST00000320756;ENST00000381881	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1646	0.72814	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAGOHB	10654547	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.545000	0.73883	2.696000	0.92011	0.591000	0.81541	.		0.259	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048	Intron	3	26	1	0	1	1	1	3	26					A	10763280	C	A	10763280	5	1	385	1	0	0	0	0	0	0	1	0	9195	695	24	4	368	4	MAGOHB	12	10763280	Splice_Site	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		10763280	123088615	12	34748											
AVPR1A	552	broad.mit.edu	37	chr12	63543874	63543874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcgacgccgtcttcccgCggacgttgcaccagatgttg	14	14	1	1			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:63543874C>T	ENST00000299178.2	-	1	848	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	248					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CGTCTTCCCGCGGACGTTGCA	0.622																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(742-744)cGc>cAc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						87	89	88					12																	63543874		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543874C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.743G>A	12.37:g.63543874C>T	ENSP00000299178:p.Arg248His						p.R248H	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	848	-			248						Missense_Mutation	SNP	ENST00000299178.2	37	c.743G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692096	0.68271	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.42513	0.97;0.97	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.111107	0.64402	D	0.000010	T	0.56171	0.1967	L	0.54908	1.71	0.46901	D	0.99924	D	0.89917	1.0	D	0.73708	0.981	T	0.53781	-0.8390	9	.	.	.	-23.8908	11.0574	0.47927	0.0:0.9144:0.0:0.0856	.	248	P37288	V1AR_HUMAN	H	29;248	ENSP00000449822:R29H;ENSP00000299178:R248H	.	R	-	2	0	AVPR1A	61830141	0.614000	0.27017	0.988000	0.46212	0.969000	0.65631	1.056000	0.30480	2.464000	0.83262	0.455000	0.32223	CGC		0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			79	140	0	0	0	1	0	79	140					T	63543874	C	T	63543874	3	4	385	1	0	0	0	0	1	0	0	0	1231	768	27	1	521	1	AVPR1A	12	63543874	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08	52780594	63543874	70308021	13	34749											
DLK1	8788	broad.mit.edu	37	chr14	101200588	101200588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaggcaatttctgcgagatCgtggccaacagctgcacccc	10	14	2	1	rs140697628		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr14:101200588C>T	ENST00000341267.4	+	5	749	c.507C>T	c.(505-507)atC>atT	p.I169I	DLK1_ENST00000331224.6_Silent_p.I169I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	169					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCTGCGAGATCGTGGCCAACA	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13824	0.0		0.0	False		,,,				2504	0.0					ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(505-507)atC>atT		delta-like 1 homolog (Drosophila)		C		0,4406		0,0,2203	71	72	72		507	1.5	0.6	14	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DLK1	NM_003836.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/384	101200588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200588C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.507C>T	14.37:g.101200588C>T						DLK1_ENST00000331224.6_Silent_p.I169I	p.I169I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	749	+		Melanoma(154;0.155)	169					P15803|Q96DW5	Silent	SNP	ENST00000341267.4	37	c.507C>T	CCDS9963.1																																																																																				0.667	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			5	157	0	0	0	1	0	5	157					T	101200588	C	T	101200588	2	4	385	1	0	0	0	0	0	0	0	1	4564	874	31	1		1	DLK1	14	101200588	Silent	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		101200588	6148952	14	34750											
ACAN	176	broad.mit.edu	37	chr15	89400909	89400909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatctggactgccctccaGtgagctggacattagtggga	12	9	1	1	rs375118386		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr15:89400909G>A	ENST00000561243.1	+	11	5093	c.5093G>A	c.(5092-5094)aGt>aAt	p.S1698N	ACAN_ENST00000439576.2_Missense_Mutation_p.S1698N|ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N			P16112	PGCA_HUMAN	aggrecan	1746	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)			CTGCCCTCCAGTGAGCTGGAC	0.537																																						ENST00000439576.2																			0				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						c.(5092-5094)aGt>aAt		aggrecan		G	ASN/SER,ASN/SER	1,3963		0,1,1981	160	158	158		5093,5093	-0.1	0	15		158	0,8350		0,0,4175	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	46,46	0,1,6156	AA,AG,GG		0.0,0.0252,0.0081	probably-damaging,probably-damaging	1698/2432,1698/2531	89400909	1,12313	1982	4175	6157	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400909G>A	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.5093G>A	15.37:g.89400909G>A	ENSP00000453342:p.Ser1698Asn					ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N|ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1698N	p.S1698N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5467	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1698					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5093G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	9.171	1.021032	0.19433	2.52E-4	0.0	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02498	4.51;4.27	5.86	-0.0894	0.13669	.	0.440182	0.16857	N	0.196717	T	0.05686	0.0149	M	0.62723	1.935	0.09310	N	1	P;D	0.55605	0.94;0.972	P;P	0.52267	0.694;0.694	T	0.30179	-0.9987	10	0.34782	T	0.22	9.0094	5.9588	0.19289	0.3286:0.2442:0.4271:0.0	.	1698;1698	E7ENV9;E7EX88	.;.	N	1698;1698;1584	ENSP00000387356:S1698N;ENSP00000341615:S1698N	ENSP00000268134:S1584N	S	+	2	0	ACAN	87201913	0.002000	0.14202	0.001000	0.08648	0.033000	0.12548	0.597000	0.24059	-0.153000	0.11137	-0.136000	0.14681	AGT		0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		52	191	0	0	0	1	0	52	191					A	89400909	G	A	89400909	3	1	385	1	0	0	0	0	1	0	0	0	117	1029	36	2	5135	2	ACAN	15	89400909	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		89400909	13130483	15	34751											
CRISPLD2	83716	broad.mit.edu	37	chr16	84872264	84872264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagagccatccccagggagGacaaggaggagatcctcatg	14	11	1	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr16:84872264G>A	ENST00000262424.5	+	2	387	c.163G>A	c.(163-165)Gac>Aac	p.D55N	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	55					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCCCAGGGAGGACAAGGAGGA	0.617																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(163-165)Gac>Aac		cysteine-rich secretory protein LCCL domain containing 2							74	68	70					16																	84872264		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84872264G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.163G>A	16.37:g.84872264G>A	ENSP00000262424:p.Asp55Asn					CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000566431.1_3'UTR	p.D55N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			2	387	+			55					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.163G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045910	0.93685	.	.	ENSG00000103196	ENST00000262424	T	0.09817	2.94	5.13	5.13	0.70059	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	M	0.81341	2.54	0.80722	D	1	B;D;D;D;D;D	0.89917	0.143;1.0;1.0;0.997;1.0;1.0	B;D;D;D;D;D	0.97110	0.141;0.998;0.996;0.986;0.999;1.0	T	0.15549	-1.0433	10	0.72032	D	0.01	.	16.4241	0.83808	0.0:0.0:1.0:0.0	.	55;55;55;55;55;55	Q9H0B8;B4E1L1;Q9H0B8-5;Q9H0B8-2;Q9H0B8-3;Q9H0B8-4	CRLD2_HUMAN;.;.;.;.;.	N	55	ENSP00000262424:D55N	ENSP00000262424:D55N	D	+	1	0	CRISPLD2	83429765	1.000000	0.71417	0.353000	0.25747	0.880000	0.50808	9.119000	0.94362	2.545000	0.85829	0.462000	0.41574	GAC		0.617	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		43	50	0	0	0	1	0	43	50					A	84872264	G	A	84872264	3	1	385	1	0	0	0	0	1	0	0	0	3883	1174	41	2	165	2	CRISPLD2	16	84872264	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		84872264	5482489	16	34752											
CASC3	22794	broad.mit.edu	37	chr17	38324149	38324149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgacagccctgccccGctgcctccacagggcatgct	11	17	0	1			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				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						GCCCTGCCCCGCTGCCTCCAC	0.502																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1696-1698)ccG>ccA		cancer susceptibility candidate 3							160	142	148					17																	38324149		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38324149G>A	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.1698G>A	17.37:g.38324149G>A							p.P566P	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			10	1924	+			566			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Silent	SNP	ENST00000264645.7	37	c.1698G>A	CCDS11362.1																																																																																				0.502	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		80	130	0	0	0	1	0	80	130					A	38324149	G	A	38324149	2	1	385	1	0	0	0	0	0	0	0	1	2661	1074	38	1		1	CASC3	17	38324149	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		38324149	42871061	17	34753											
FZR1	51343	broad.mit.edu	37	chr19	3527700	3527700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttcaaggtgctggacgCgcccgagctgcaggacgact	13	15	1	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr19:3527700C>T	ENST00000395095.3	+	6	542	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.A181V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	181					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTGGACGCGCCCGAGCTG	0.637																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(541-543)gCg>gTg		fizzy/cell division cycle 20 related 1 (Drosophila)							112	89	97					19																	3527700		2200	4298	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527700C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.542C>T	19.37:g.3527700C>T	ENSP00000378529:p.Ala181Val					FZR1_ENST00000395095.3_Missense_Mutation_p.A181V|FZR1_ENST00000313639.8_Intron	p.A181V	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	7	778	+			181					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.542C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987937	0.93106	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.11169	2.8;2.8	5.14	5.14	0.70334	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45276	0.1334	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.867	T	0.60203	-0.7309	10	0.87932	D	0	-47.5036	17.2027	0.86910	0.0:1.0:0.0:0.0	.	181;181	Q9UM11;Q9UM11-2	FZR_HUMAN;.	V	181	ENSP00000410369:A181V;ENSP00000378529:A181V	ENSP00000378529:A181V	A	+	2	0	FZR1	3478700	1.000000	0.71417	0.443000	0.26883	0.686000	0.39977	7.584000	0.82572	2.399000	0.81585	0.655000	0.94253	GCG		0.637	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		14	32	0	0	0	1	0	14	32					T	3527700	C	T	3527700	3	4	385	1	0	0	0	0	1	0	0	0	6138	768	27	1	564	1	FZR1	19	3527700	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		3527700	55601283	18	34754											
PLCG1	5335	broad.mit.edu	37	chr20	39798830	39798830	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcccactggtccctggAtgttgctgccgactcacagg	14	13	1	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr20:39798830A>T	ENST00000373271.1	+	24	3134	c.2729A>T	c.(2728-2730)gAt>gTt	p.D910V	PLCG1_ENST00000373272.2_Missense_Mutation_p.D910V|PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	910	PH 2; second part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				TGGTCCCTGGATGTTGCTGCC	0.592																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2728-2730)gAt>gTt		phospholipase C, gamma 1							95	95	95					20																	39798830		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39798830A>T	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.2729A>T	20.37:g.39798830A>T	ENSP00000362368:p.Asp910Val					PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V|PLCG1_ENST00000373271.1_Missense_Mutation_p.D910V	p.D910V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			24	3134	+		Myeloproliferative disorder(115;0.00878)	910			PH 2; second part.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2729A>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359649	0.82353	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.51817	0.69;0.69;0.69	5.16	5.16	0.70880	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.050787	0.85682	D	0.000000	T	0.55497	0.1924	L	0.55103	1.725	0.80722	D	1	P;D;P;P	0.53885	0.851;0.963;0.609;0.768	P;P;B;B	0.54060	0.623;0.741;0.235;0.418	T	0.52411	-0.8579	10	0.29301	T	0.29	.	14.9951	0.71425	1.0:0.0:0.0:0.0	.	910;486;910;910	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	V	910	ENSP00000244007:D910V;ENSP00000362368:D910V;ENSP00000362369:D910V	ENSP00000244007:D910V	D	+	2	0	PLCG1	39232244	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.125000	0.94402	1.964000	0.57103	0.383000	0.25322	GAT		0.592	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		4	155	0	0	0	1	0	4	155					T	39798830	A	T	39798830	3	4	385	1	0	0	0	0	1	0	0	0	12035	333	12	5	2823	5	PLCG1	20	39798830	Missense_Mutation	SNP	A	TCGA-QH-A6CU-01A-11D-A31L-08		39798830	23226690	19	34755											
SATL1	340562	broad.mit.edu	37	chrX	84362660	84362660	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggttgccacatgcctcGttgccacatgcctggtggac	12	14	0	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:84362660G>A	ENST00000395409.3	-	1	1314	c.754C>T	c.(754-756)Cga>Tga	p.R252*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R439*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	252	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CACATGCCTCGTTGCCACATG	0.552																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1315-1317)Cga>Tga		spermidine/spermine N1-acetyl transferase-like 1							246	182	204					X																	84362660		2203	4300	6503	SO:0001587	stop_gained	340562						N-acetyltransferase activity	g.chrX:84362660G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.754C>T	X.37:g.84362660G>A	ENSP00000378804:p.Arg252*					SATL1_ENST00000395409.3_Nonsense_Mutation_p.R252*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252*	p.R439*			Q86VE3	SATL1_HUMAN			1	1394	-			252			Acetyl-CoA binding (By similarity).|N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37	c.1315C>T		.	.	.	.	.	.	.	.	.	.	g	37	6.515211	0.97629	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	2.26	-2.93	0.05598	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	1.4425	2.6562	0.05013	0.398:0.0:0.2417:0.3603	.	.	.	.	X	252;252;439	.	ENSP00000329115:R252X	R	-	1	2	SATL1	84249316	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.451000	0.06795	-0.882000	0.03987	0.115000	0.15696	CGA		0.552	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		9	220	0	0	0	1	0	9	220					A	84362660	G	A	84362660	4	1	385	1	0	0	0	0	0	1	0	0	13855	1153	40	1	603	1	SATL1	23	84362660	Nonsense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		84362660	70907900	20	34756											
HCFC1	3054	broad.mit.edu	37	chrX	153222852	153222852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggtggtactgggggagaCgctgctgatgcccaggatgg	18	8	0	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153222852C>A	ENST00000310441.7	-	13	3232	c.2266G>T	c.(2266-2268)Gtc>Ttc	p.V756F	HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	756	Interaction with ZBTB17.				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)					CTGGGGGAGACGCTGCTGATG	0.652																																						ENST00000310441.7																			0				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						c.(2266-2268)Gtc>Ttc		host cell factor C1 (VP16-accessory protein)							110	119	116					X																	153222852		2162	4221	6383	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222852C>A		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.2266G>T	X.37:g.153222852C>A	ENSP00000309555:p.Val756Phe					HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F|HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F	p.V756F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			13	3232	-	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)		756			Interaction with ZBTB17.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2266G>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294983	0.81025	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04156	3.7;3.69;3.82	5.91	5.91	0.95273	.	0.259797	0.37809	N	0.001930	T	0.10809	0.0264	N	0.24115	0.695	0.49798	D	0.999827	D	0.64830	0.994	P	0.58520	0.84	T	0.04811	-1.0925	10	0.87932	D	0	.	17.8325	0.88687	0.0:1.0:0.0:0.0	.	756	P51610	HCFC1_HUMAN	F	756;756;687	ENSP00000309555:V756F;ENSP00000359001:V756F;ENSP00000346174:V687F	ENSP00000309555:V756F	V	-	1	0	HCFC1	152876046	0.998000	0.40836	0.946000	0.38457	0.831000	0.47069	3.617000	0.54181	2.485000	0.83878	0.600000	0.82982	GTC		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		97	204	1	0	3.17287e-45	1	3.47993e-45	97	204					A	153222852	C	A	153222852	3	1	385	1	0	0	0	0	1	0	0	0	6991	536	19	4	3897	4	HCFC1	23	153222852	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08	68860192	153222852	2047708	21	34757											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G													ctgctgctcttccttgccgtINSggggggggccctgggcaaca					rs375310385		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					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)	p.A17fs*39(1)		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)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	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						c.(40-42)gggfs		plexin A3																																				SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688564_153688565insG	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.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs						p.G14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	216_217	+	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)		14					Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	c.41_42insG	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	155						7	155	---	---	---	---	G	153688565	-	G	153688564	7	5	385	1	0	1	1	0	0	0	0	0	12121	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-QH-A6CU-01A-11D-A31L-08	465712	153688564	1581996	22	34758											
GLIS1	148979	broad.mit.edu	37	chr1	54060262	54060262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgtcagaggggggctcCggagtccatttacacaggtg	14	12	1	1	rs200251480		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:54060262C>T	ENST00000312233.2	-	3	880	c.314G>A	c.(313-315)cGg>cAg	p.R105Q		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGGGGGCTCCGGAGTCCATT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15856	0.0		0.001	False		,,,				2504	0.0					ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(313-315)cGg>cAg		GLIS family zinc finger 1							21	26	24					1																	54060262		2179	4249	6428	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060262C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.314G>A	1.37:g.54060262C>T	ENSP00000309653:p.Arg105Gln						p.R105Q	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			3	880	-			105						Missense_Mutation	SNP	ENST00000312233.2	37	c.314G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091862	0.55968	.	.	ENSG00000174332	ENST00000312233	T	0.13089	2.62	4.8	3.87	0.44632	.	0.000000	0.48767	D	0.000166	T	0.08980	0.0222	L	0.32530	0.975	0.34087	D	0.660292	B	0.31752	0.338	B	0.17098	0.017	T	0.15065	-1.0450	10	0.62326	D	0.03	.	7.6155	0.28156	0.1666:0.7407:0.0:0.0927	.	105	Q8NBF1	GLIS1_HUMAN	Q	105	ENSP00000309653:R105Q	ENSP00000309653:R105Q	R	-	2	0	GLIS1	53832850	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.021000	0.41020	1.316000	0.45131	0.563000	0.77884	CGG		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		5	52	0	0	0	1	0	5	52					T	54060262	C	T	54060262	3	4	386	1	0	0	0	0	1	0	0	0	6445	652	23	1	1580	1	GLIS1	1	54060262	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		54060262	195190359	1	34759											
OR10J3	441911	broad.mit.edu	37	chr1	159284152	159284152	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagatagaagaagagctgagTggcacagctttgggtggcaa	16	5	0	5			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:159284152T>A	ENST00000332217.5	-	1	297	c.298A>T	c.(298-300)Act>Tct	p.T100S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	100						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(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGAGCTGAGTGGCACAGCTT	0.507																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(298-300)Act>Tct		olfactory receptor, family 10, subfamily J, member 3							108	104	105					1																	159284152		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284152T>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.298A>T	1.37:g.159284152T>A	ENSP00000331789:p.Thr100Ser						p.T100S	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	297	-	all_hematologic(112;0.0429)		100						Missense_Mutation	SNP	ENST00000332217.5	37	c.298A>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316355	0.23908	.	.	ENSG00000196266	ENST00000332217	T	0.02974	4.09	5.93	0.992	0.19819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33792	U	0.004551	T	0.00906	0.0030	L	0.43598	1.365	0.09310	N	1	B	0.23490	0.086	B	0.26094	0.066	T	0.46898	-0.9158	10	0.45353	T	0.12	.	4.5413	0.12058	0.1348:0.2281:0.0:0.6371	.	100	Q5JRS4	O10J3_HUMAN	S	100	ENSP00000331789:T100S	ENSP00000331789:T100S	T	-	1	0	OR10J3	157550776	0.000000	0.05858	0.774000	0.31636	0.650000	0.38633	-1.992000	0.01476	0.125000	0.18397	0.459000	0.35465	ACT		0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			24	53	0	0	0	1	0	24	53					A	159284152	T	A	159284152	3	1	386	1	0	0	0	0	1	0	0	0	10911	1696	59	5	693	5	OR10J3	1	159284152	Missense_Mutation	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	105223890	159284152	89966469	2	34760											
OBSCN	84033	broad.mit.edu	37	chr1	228437713	228437713	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcacacaggaaggtgCaggccgaggcgggggccatt	18	10	0	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:228437713C>T	ENST00000422127.1	+	14	4125	c.4081C>T	c.(4081-4083)Cag>Tag	p.Q1361*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q1453*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1361	Ig-like 14.				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)				CAGGAAGGTGCAGGCCGAGGC	0.637																																						ENST00000570156.2																			0				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						c.(4357-4359)Cag>Tag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							64	69	67					1																	228437713		2065	4197	6262	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437713C>T	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.4081C>T	1.37:g.228437713C>T	ENSP00000409493:p.Gln1361*					OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.Q1453*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4431	+		Prostate(94;0.0405)	431			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.4357C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	39	7.667619	0.98422	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	5.31	-0.795	0.10915	.	0.433777	0.21965	N	0.066525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.2807	0.15674	0.6054:0.2163:0.0989:0.0794	.	.	.	.	X	1361	.	ENSP00000284548:Q1361X	Q	+	1	0	OBSCN	226504336	0.993000	0.37304	0.116000	0.21606	0.022000	0.10575	0.547000	0.23299	0.104000	0.17725	0.655000	0.94253	CAG		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	85	0	0	0	1	0	4	85					T	228437713	C	T	228437713	4	4	386	1	0	0	0	0	0	1	0	0	10812	711	25	2	4131	2	OBSCN	1	228437713	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	69153561	228437713	20812908	3	34761											
PCNXL2	80003	broad.mit.edu	37	chr1	233160996	233160996	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggatgtactgggtctGcgtgatttcccaggtgagcc	13	11	1	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:233160996G>A	ENST00000258229.9	-	26	4735	c.4501C>T	c.(4501-4503)Cag>Tag	p.Q1501*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1501						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGGTCTGCGTGATTTCC	0.592											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4501-4503)Cag>Tag		pecanex-like 2 (Drosophila)							151	157	155					1																	233160996		2200	4297	6497	SO:0001587	stop_gained	80003					integral to membrane		g.chr1:233160996G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4501C>T	1.37:g.233160996G>A	ENSP00000258229:p.Gln1501*		OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2363	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	p.Q1501*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			26	4735	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1501					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	ENST00000258229.9	37	c.4501C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	44	10.917698	0.99489	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	.	.	.	5.77	3.87	0.44632	.	0.253681	0.41396	D	0.000892	.	.	.	.	.	.	0.23198	N	0.998138	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	14.3848	0.66938	0.0:0.0:0.6148:0.3852	.	.	.	.	X	153;1501	.	ENSP00000258229:Q1501X	Q	-	1	0	PCNXL2	231227619	0.453000	0.25721	0.002000	0.10522	0.275000	0.26752	2.167000	0.42415	0.867000	0.35654	0.655000	0.94253	CAG		0.592	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		14	124	0	0	0	1	0	14	124					A	233160996	G	A	233160996	4	1	386	1	0	0	0	0	0	1	0	0	11592	1328	46	2	1948	2	PCNXL2	1	233160996	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	4723283	233160996	16089625	4	34762											
OR2T6	254879	broad.mit.edu	37	chr1	248551726	248551726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaccccaatcaaagataagGtcttctctgccttttatacc	4	13	3	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:248551726G>T	ENST00000355728.2	+	1	817	c.817G>T	c.(817-819)Gtc>Ttc	p.V273F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	273						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(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CAAAGATAAGGTCTTCTCTGC	0.473																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(817-819)Gtc>Ttc		olfactory receptor, family 2, subfamily T, member 6							143	138	140					1																	248551726		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551726G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.817G>T	1.37:g.248551726G>T	ENSP00000347965:p.Val273Phe						p.V273F	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	817	+	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)		273					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.817G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282294	0.40394	.	.	ENSG00000198104	ENST00000355728	T	0.00274	8.35	4.2	-2.45	0.06481	GPCR, rhodopsin-like superfamily (1);	0.857165	0.09740	N	0.761925	T	0.00178	0.0005	L	0.35854	1.095	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.17319	-1.0373	10	0.59425	D	0.04	.	6.1623	0.20370	0.3615:0.3384:0.3:0.0	.	273	Q8NHC8	OR2T6_HUMAN	F	273	ENSP00000347965:V273F	ENSP00000347965:V273F	V	+	1	0	OR2T6	246618349	0.000000	0.05858	0.675000	0.29917	0.825000	0.46686	-5.302000	0.00133	-0.330000	0.08514	-0.133000	0.14855	GTC		0.473	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		18	39	1	0	2.94398e-08	1	3.10754e-08	18	39					T	248551726	G	T	248551726	3	4	386	1	0	0	0	0	1	0	0	0	11029	1261	44	4	819	4	OR2T6	1	248551726	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	15390730	248551726	698895	5	34763											
ADI1	55256	broad.mit.edu	37	chr2	3517685	3517685	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttatgatgtccatccaggaGtagttcctctctcttcggat	9	10	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:3517685G>T	ENST00000327435.6	-	2	431	c.183C>A	c.(181-183)taC>taA	p.Y61*	ADI1_ENST00000382093.5_Nonsense_Mutation_p.Y55*	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCATCCAGGAGTAGTTCCTCT	0.373																																						ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(163-165)taC>taA		acireductone dioxygenase 1							170	161	164					2																	3517685		2203	4300	6503	SO:0001587	stop_gained	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3517685G>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.183C>A	2.37:g.3517685G>T	ENSP00000333666:p.Tyr61*					ADI1_ENST00000327435.6_Nonsense_Mutation_p.Y61*	p.Y55*			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	2	3002	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		61						Nonsense_Mutation	SNP	ENST00000327435.6	37	c.165C>A	CCDS1653.1	.	.	.	.	.	.	.	.	.	.	G	55	25.117901	0.99963	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.27	1.47	0.22746	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.2234	7.6888	0.28557	0.2888:0.0:0.7112:0.0	.	.	.	.	X	61;55	.	ENSP00000333666:Y61X	Y	-	3	2	ADI1	3496693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.563000	0.23547	0.190000	0.20209	0.591000	0.81541	TAC		0.373	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		6	42	1	0	0.217242	1	0.217242	6	42					T	3517685	G	T	3517685	4	4	386	1	0	0	0	0	0	1	0	0	315	1024	36	4	368	4	ADI1	2	3517685	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		3517685	239681688	6	34764											
TP53I3	9540	broad.mit.edu	37	chr2	24307151	24307151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggccacctccttcacgtAgaggttttccggtcctcccg	9	16	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:24307151A>G	ENST00000238721.4	-	1	900	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	16					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTCACGTAGAGGTTTTCC	0.642											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000238721.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12						c.(46-48)Tac>Cac		tumor protein p53 inducible protein 3							57	58	58					2																	24307151		2203	4300	6503	SO:0001583	missense	9540				induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	g.chr2:24307151A>G	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.46T>C	2.37:g.24307151A>G	ENSP00000238721:p.Tyr16His		OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	770	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR	p.Y16H	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN			1	900	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		16					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.46T>C	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	A	5.643	0.303358	0.10678	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.16897	2.31;2.31;2.57;2.57;2.57	5.08	3.9	0.45041	GroES-like (1);	0.387053	0.27861	N	0.017550	T	0.07683	0.0193	N	0.03917	-0.325	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.003	T	0.32955	-0.9887	10	0.24483	T	0.36	-1.6318	11.2014	0.48743	0.8457:0.1543:0.0:0.0	.	16;16	Q53FA7;Q53FA7-2	QORX_HUMAN;.	H	16;16;16;16;11	ENSP00000337834:Y16H;ENSP00000238721:Y16H;ENSP00000322298:Y16H;ENSP00000384414:Y16H;ENSP00000389620:Y11H	ENSP00000238721:Y16H	Y	-	1	0	TP53I3	24160655	0.011000	0.17503	0.222000	0.23844	0.409000	0.31022	2.147000	0.42226	0.866000	0.35629	0.533000	0.62120	TAC		0.642	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		5	23	0	0	0	1	0	5	23					G	24307151	A	G	24307151	3	3	386	1	0	0	0	0	1	0	0	0	16384	420	15	3	972	3	TP53I3	2	24307151	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08	20789466	24307151	218892222	7	34765											
ACTR2	10097	broad.mit.edu	37	chr2	65473766	65473766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacatgaaacacctgtggGactacacatttggaccagag	10	9	0	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:65473766G>A	ENST00000260641.5	+	3	425	c.268G>A	c.(268-270)Gac>Aac	p.D90N	ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	90					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACACCTGTGGGACTACACATT	0.383																																						ENST00000260641.5																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						c.(268-270)Gac>Aac		ARP2 actin-related protein 2 homolog (yeast)							141	148	146					2																	65473766		2203	4300	6503	SO:0001583	missense	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65473766G>A	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.268G>A	2.37:g.65473766G>A	ENSP00000260641:p.Asp90Asn					ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N|ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N	p.D90N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN			3	425	+			90					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	ENST00000260641.5	37	c.268G>A	CCDS1881.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448418	0.63178	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	D;D;D	0.97505	-4.41;-4.41;-4.41	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94601	0.8260	N	0.25647	0.755	0.80722	D	1	B;B;B	0.23249	0.082;0.012;0.012	B;B;B	0.30782	0.117;0.059;0.12	D	0.91551	0.5257	10	0.33940	T	0.23	-18.0517	19.0383	0.92987	0.0:0.0:1.0:0.0	.	35;90;95	F5H6T1;P61160;E9PF41	.;ARP2_HUMAN;.	N	90;35;95;35	ENSP00000260641:D90N;ENSP00000437383:D35N;ENSP00000367220:D95N	ENSP00000260641:D90N	D	+	1	0	ACTR2	65327270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.830000	0.99415	2.510000	0.84645	0.561000	0.74099	GAC		0.383	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		25	107	0	0	0	1	0	25	107					A	65473766	G	A	65473766	3	1	386	1	0	0	0	0	1	0	0	0	211	1174	41	2	297	2	ACTR2	2	65473766	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	41166615	65473766	177725607	8	34766											
MYO1B	4430	broad.mit.edu	37	chr2	192251949	192251949	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttacatgtgctgcttataGgtgctgtaccaggtggaagg	14	6	0	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:192251949G>A	ENST00000392318.3	+	17	1801		c.e17-1		MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						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)			GCTGCTTATAGGTGCTGTACC	0.443																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.e17-1		myosin IB							117	116	117					2																	192251949		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192251949G>A	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.1555-1G>A	2.37:g.192251949G>A						MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site		NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		17	1801	+								O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37		CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272764	0.80580	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191960194	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.731000	0.98807	2.822000	0.97130	0.650000	0.86243	.		0.443	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Intron	16	35	0	0	0	1	0	16	35					A	192251949	G	A	192251949	5	1	386	1	0	0	0	0	0	0	1	0	10069	1014	35	2	1616	2	MYO1B	2	192251949	Splice_Site	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	126778183	192251949	50947424	9	34767											
ERBB4	2066	broad.mit.edu	37	chr2	212652796	212652796	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaagttggaaggccaTgggttccgaacaatatcttg	12	7	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:212652796T>C	ENST00000342788.4	-	4	820	c.510A>G	c.(508-510)ccA>ccG	p.P170P	ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000436443.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	170					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGGAAGGCCATGGGTTCCGAA	0.363										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(508-510)ccA>ccG		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							104	98	100					2																	212652796		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212652796T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.510A>G	2.37:g.212652796T>C		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.P170P|ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR	p.P170P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	4	820	-		Renal(323;0.06)|Lung NSC(271;0.197)	170					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.510A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347558	0.24426	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.32	-3.82	0.04281	.	.	.	.	.	T	0.36441	0.0967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35001	-0.9806	4	.	.	.	.	0.9431	0.01359	0.3117:0.3107:0.1252:0.2524	.	.	.	.	R	170	.	.	H	-	2	0	ERBB4	212361041	0.967000	0.33354	0.988000	0.46212	0.992000	0.81027	-0.172000	0.09868	-0.565000	0.06061	0.397000	0.26171	CAT		0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		26	26	0	0	0	1	0	26	26					C	212652796	T	C	212652796	2	2	386	1	0	0	0	0	0	0	0	1	5209	1451	51	3		3	ERBB4	2	212652796	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	20400847	212652796	30546577	10	34768											
LRRC15	131578	broad.mit.edu	37	chr3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggagctgtctgaggcGgttgttctgcagggagatgt	17	8	2	2	rs530171790		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C|LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20433	0.001		0.0	False		,,,				2504	0.0					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1126-1128)Cgc>Tgc		leucine rich repeat containing 15							61	59	60					3																	194080647		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080647G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1126C>T	3.37:g.194080647G>A	ENSP00000306276:p.Arg376Cys					LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	p.R376C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	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;4.94e-05)	2	1211	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		376					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1126C>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384715	0.61845	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.60672	0.17;0.17;0.17	5.01	4.07	0.47477	.	0.605862	0.15985	N	0.235129	T	0.67277	0.2876	M	0.67700	2.07	0.50632	D	0.999882	D;D	0.67145	0.996;0.987	P;P	0.57283	0.817;0.629	T	0.64241	-0.6454	10	0.33141	T	0.24	.	12.4989	0.55944	0.0:0.0:0.7088:0.2912	.	376;382	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	376;382;382	ENSP00000306276:R376C;ENSP00000389128:R382C;ENSP00000413707:R382C	ENSP00000306276:R376C	R	-	1	0	LRRC15	195561942	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.587000	0.46128	2.500000	0.84329	0.655000	0.94253	CGC		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			8	13	0	0	0	1	0	8	13					A	194080647	G	A	194080647	3	1	386	1	0	0	0	0	1	0	0	0	8970	1116	39	1	623	1	LRRC15	3	194080647	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		194080647	3941783	11	34769											
C4orf21	55345	broad.mit.edu	37	chr4	113461096	113461096	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacaatcaacaaatgcCtctttcctctagtcaatgca	3	14	4	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:113461096C>G	ENST00000505019.1	-	27	6220	c.6095G>C	c.(6094-6096)aGg>aCg	p.R2032T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2032						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)		CAACAAATGCCTCTTTCCTCT	0.368																																						ENST00000505019.1																			0				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						c.(6094-6096)aGg>aCg		chromosome 4 open reading frame 21							133	121	125					4																	113461096		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113461096C>G																												ENST00000505019.1:c.6095G>C	4.37:g.113461096C>G	ENSP00000424737:p.Arg2032Thr					RP11-402J6.1_ENST00000504009.1_RNA	p.R2032T	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	27	6220	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.6095G>C		.	.	.	.	.	.	.	.	.	.	C	23.8	4.460458	0.84317	.	.	ENSG00000138658	ENST00000505019	D	0.92545	-3.06	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95089	0.8409	L	0.55743	1.74	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.945;0.976	D	0.95169	0.8288	10	0.66056	D	0.02	-18.8293	19.3603	0.94434	0.0:1.0:0.0:0.0	.	2032;490	G5EA02;B3KQX2	.;.	T	2032	ENSP00000424737:R2032T	ENSP00000424737:R2032T	R	-	2	0	C4orf21	113680545	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.269000	0.65542	2.652000	0.90054	0.561000	0.74099	AGG		0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			21	30	0	0	0	1	0	21	30					G	113461096	C	G	113461096	3	3	386	1	0	0	0	0	1	0	0	0	2254	681	24	4	227	4	C4orf21	4	113461096	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		113461096	77693180	12	34770											
RXFP1	59350	broad.mit.edu	37	chr4	159566103	159566103	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtatgcaccacatgtTcgcagctgtaaaccaaacac	9	11	0	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:159566103T>G	ENST00000307765.5	+	15	1409	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V	RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000343542.5_Silent_p.V338V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	386					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CACCACATGTTCGCAGCTGTA	0.368																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1156-1158)gtT>gtG		relaxin/insulin-like family peptide receptor 1							96	88	91					4																	159566103		1851	4103	5954	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159566103T>G	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1158T>G	4.37:g.159566103T>G						RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000343542.5_Silent_p.V338V	p.V386V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	15	1409	+	all_hematologic(180;0.24)	Renal(120;0.0854)	386					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.1158T>G	CCDS43276.1																																																																																				0.368	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		6	18	0	0	0	1	0	6	18					G	159566103	T	G	159566103	2	3	386	1	0	0	0	0	0	0	0	1	13759	1770	62	5		5	RXFP1	4	159566103	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	46105007	159566103	31588173	13	34771											
MTRR	4552	broad.mit.edu	37	chr5	7900165	7900165	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctaccttcaggatatttgGtcataaaaccagaaattaaa	6	8	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:7900165G>A	ENST00000264668.2	+	15	2202	c.2172G>A	c.(2170-2172)tgG>tgA	p.W724*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	724					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGGATATTTGGTCATAAAACC	0.323																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(2170-2172)tgG>tgA		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						59	63	62					5																	7900165		2202	4300	6502	SO:0001587	stop_gained	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7900165G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.2172G>A	5.37:g.7900165G>A	ENSP00000264668:p.Trp724*					MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	p.W724*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			15	2202	+			724					O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	ENST00000264668.2	37	c.2172G>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	40	8.074143	0.98640	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4475	19.8673	0.96808	0.0:0.0:1.0:0.0	.	.	.	.	X	724;697	.	ENSP00000264668:W724X	W	+	3	0	MTRR	7953165	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	8.832000	0.92079	2.709000	0.92574	0.655000	0.94253	TGG		0.323	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			6	111	0	0	0	1	0	6	111					A	7900165	G	A	7900165	4	1	386	1	0	0	0	0	0	1	0	0	9961	1270	44	2	2230	2	MTRR	5	7900165	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		7900165	173015095	14	34772											
CSF2	1437	broad.mit.edu	37	chr5	131409549	131409549	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctgctgctcttgggcacTgtggcctgcagcatctctgc	12	14	2	0	rs201520008		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:131409549T>G	ENST00000296871.2	+	1	67	c.33T>G	c.(31-33)acT>acG	p.T11T		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	11					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTGGGCACTGTGGCCTGCA	0.602																																						ENST00000296871.2																			0				skin(1)	1						c.(31-33)acT>acG		colony stimulating factor 2 (granulocyte-macrophage)	Sargramostim(DB00020)						30	35	33					5																	131409549		2202	4300	6502	SO:0001819	synonymous_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409549T>G	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"sargramostim", "molgramostin", "granulocyte-macrophage colony stimulating factor"	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.33T>G	5.37:g.131409549T>G							p.T11T	NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	67	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	11					Q14CE8|Q2VPI8|Q8NFI6	Silent	SNP	ENST00000296871.2	37	c.33T>G	CCDS4150.1																																																																																				0.602	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758		11	79	0	0	0	1	0	11	79					G	131409549	T	G	131409549	2	3	386	1	0	0	0	0	0	0	0	1	3933	1567	55	5		5	CSF2	5	131409549	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	123509384	131409549	49505711	15	34773											
TRPC7	57113	broad.mit.edu	37	chr5	135601935	135601935	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccacttcataatgagcatttCtgtccaggagaactgtgtgg	10	9	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:135601935C>T	ENST00000513104.1	-	5	1600	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	440					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)			ATGAGCATTTCTGTCCAGGAG	0.378																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(1318-1320)Gaa>Aaa		transient receptor potential cation channel, subfamily C, member 7							223	212	215					5																	135601935		1875	4113	5988	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135601935C>T	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.1318G>A	5.37:g.135601935C>T	ENSP00000426070:p.Glu440Lys					TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K	p.E440K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1600	-			440					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1318G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.539792|5.539792	0.96474|0.96474	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;D;T|.	0.82167|.	-1.35;-1.58;-1.39|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83083|0.83083	0.5177|0.5177	M|M	0.85710|0.85710	2.77|2.77	0.58432|0.58432	D|D	0.999999|0.999999	D;B;D;D|.	0.63880|.	0.993;0.142;0.975;0.975|.	D;B;P;P|.	0.64506|.	0.926;0.287;0.858;0.786|.	D|D	0.84247|0.84247	0.0475|0.0475	10|5	0.87932|.	D|.	0|.	-7.1309|-7.1309	19.3071|19.3071	0.94167|0.94167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	324;379;385;440|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	K|K	379;324;440;440|323;378;384	ENSP00000347312:E379K;ENSP00000441628:E324K;ENSP00000426070:E440K|.	ENSP00000265193:E440K|.	E|R	-|-	1|2	0|0	TRPC7|TRPC7	135629834|135629834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.378	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		15	191	0	0	0	1	0	15	191					T	135601935	C	T	135601935	3	4	386	1	0	0	0	0	1	0	0	0	16581	922	32	2	1302	2	TRPC7	5	135601935	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	4192386	135601935	45313325	16	34774											
ARHGAP26	23092	broad.mit.edu	37	chr5	142500615	142500615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtgtggtgtttggacCcactctgctgaggcctcagg	14	11	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:142500615C>T	ENST00000274498.4	+	18	1979	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.P534L	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	534	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTTTGGACCCACTCTGCTG	0.438																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1600-1602)cCc>cTc		Rho GTPase activating protein 26							155	149	151					5																	142500615		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142500615C>T	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"Rho GTPase activating proteins"	17073	protein-coding gene	gene with protein product	"GTPase regulator associated with the focal adhesion kinase pp125"	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1601C>T	5.37:g.142500615C>T	ENSP00000274498:p.Pro534Leu					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P534L	p.P534L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	1956	+		all_hematologic(541;0.0416)	534			Rho-GAP.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1601C>T	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.007771|5.007771	0.93287|0.93287	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|T;T	0.41065|0.40225	1.01;1.01|1.04;1.04	5.38|5.38	5.38|5.38	0.77491|0.77491	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76414|0.76414	0.3984|0.3984	H|H	0.95437|0.95437	3.67|3.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.999;1.0|.	D|D	0.84111|0.84111	0.0401|0.0401	10|8	0.87932|0.87932	D|D	0|0	.|.	19.1627|19.1627	0.93541|0.93541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	534;107;534|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	L|S	534;534;107|153;106	ENSP00000274498:P534L;ENSP00000367243:P534L|ENSP00000393276:P153S;ENSP00000416889:P106S	ENSP00000274498:P534L|ENSP00000416889:P106S	P|P	+|+	2|1	0|0	ARHGAP26|ARHGAP26	142480808|142480808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.487000|7.487000	0.81328|0.81328	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.438	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		18	152	0	0	0	1	0	18	152					T	142500615	C	T	142500615	3	4	386	1	0	0	0	0	1	0	0	0	875	623	22	2	1671	2	ARHGAP26	5	142500615	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6898680	142500615	38414645	17	34775											
KIF4B	285643	broad.mit.edu	37	chr5	154395583	154395583	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgctctccagaaacaaCgagaggtcacagataagcgg	12	9	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:154395583C>T	ENST00000435029.4	+	1	2324	c.2164C>T	c.(2164-2166)Cga>Tga	p.R722*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	722	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)			CCAGAAACAACGAGAGGTCAC	0.468																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2164-2166)Cga>Tga		kinesin family member 4B							90	91	90					5																	154395583		2203	4300	6503	SO:0001587	stop_gained	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395583C>T	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.2164C>T	5.37:g.154395583C>T	ENSP00000387875:p.Arg722*						p.R722*	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2324	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	722			Interaction with PRC1 (By similarity).			Nonsense_Mutation	SNP	ENST00000435029.4	37	c.2164C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.822727	0.90873	.	.	ENSG00000226650	ENST00000435029	.	.	.	2.54	0.325	0.15903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	4.9047	0.13793	0.4177:0.3762:0.206:0.0	.	.	.	.	X	722	.	ENSP00000387875:R722X	R	+	1	2	KIF4B	154375776	0.993000	0.37304	0.212000	0.23672	0.287000	0.27160	1.245000	0.32790	-0.286000	0.09076	0.563000	0.77884	CGA		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			4	90	0	0	0	1	0	4	90					T	154395583	C	T	154395583	4	4	386	1	0	0	0	0	0	1	0	0	8304	528	19	1	2166	1	KIF4B	5	154395583	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	11894968	154395583	26519677	18	34776											
CLK4	57396	broad.mit.edu	37	chr5	178030707	178030707	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatattctaacattcttcGaaccaggtcaaacagtttct	4	10	5	0	rs368747027		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:178030707G>A	ENST00000316308.4	-	13	1525	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	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)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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;0.235)		AACATTCTTCGAACCAGGTCA	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		16047	0.001		0.0	False		,,,				2504	0.0					ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(1357-1359)Cga>Tga		CDC-like kinase 4							90	87	88					5																	178030707		2203	4300	6503	SO:0001587	stop_gained	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178030707G>A	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1357C>T	5.37:g.178030707G>A	ENSP00000316948:p.Arg453*						p.R453*	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	13	1525	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	453			Protein kinase.			Nonsense_Mutation	SNP	ENST00000316308.4	37	c.1357C>T	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	37	6.161670	0.97338	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	.	.	.	4.89	4.0	0.46444	.	0.296952	0.34603	N	0.003835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2258	0.54459	0.0:0.0:0.8281:0.1719	.	.	.	.	X	453;345	.	ENSP00000316948:R453X	R	-	1	2	CLK4	177963313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.510000	0.73729	1.023000	0.39654	-0.282000	0.10007	CGA		0.318	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			14	34	0	0	0	1	0	14	34					A	178030707	G	A	178030707	4	1	386	1	0	0	0	0	0	1	0	0	3539	1066	37	1	92	1	CLK4	5	178030707	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	23635124	178030707	2884553	19	34777											
FLT4	2324	broad.mit.edu	37	chr5	180056400	180056400	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtctgctgggagcgtcGctcgggcacccacttacccc	14	15	1	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:180056400G>A	ENST00000261937.6	-	7	922	c.844C>T	c.(844-846)Cga>Tga	p.R282*	FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	282	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGAGCGTCGCTCGGGCACC	0.662																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(844-846)Cga>Tga		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						131	114	120					5																	180056400		2201	4299	6500	SO:0001587	stop_gained	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056400G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.844C>T	5.37:g.180056400G>A	ENSP00000261937:p.Arg282*					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*	p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	7	922	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	282			Ig-like C2-type 3.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	ENST00000261937.6	37	c.844C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	37	6.459848	0.97585	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	12.6607	0.56811	0.0:0.0:0.7402:0.2598	.	.	.	.	X	282;282;282;92	.	ENSP00000261937:R282X	R	-	1	2	FLT4	179989006	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.552000	0.36244	2.440000	0.82611	0.561000	0.74099	CGA		0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	69	0	0	0	1	0	11	69					A	180056400	G	A	180056400	4	1	386	1	0	0	0	0	0	1	0	0	5944	1095	38	1	3351	1	FLT4	5	180056400	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2025693	180056400	858860	20	34778											
RANBP9	10048	broad.mit.edu	37	chr6	13642747	13642747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagctaattcttctagaaCggtctggtctgtagatctgg	12	7	5	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:13642747C>T	ENST00000011619.3	-	7	1247	c.1189G>A	c.(1189-1191)Gtt>Att	p.V397I	RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	397	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTTCTAGAACGGTCTGGTCT	0.363																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1189-1191)Gtt>Att		RAN binding protein 9							100	94	96					6																	13642747		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13642747C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1189G>A	6.37:g.13642747C>T	ENSP00000011619:p.Val397Ile					RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	p.V397I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		7	1247	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	397			LisH.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1189G>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949787	0.34377	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.76839	-1.05	5.75	4.87	0.63330	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.04043	-0.29	0.58432	D	0.999994	P	0.47762	0.9	B	0.29716	0.106	T	0.50825	-0.8782	10	0.14656	T	0.56	-7.9464	15.1692	0.72858	0.0:0.9308:0.0:0.0692	.	397	Q96S59	RANB9_HUMAN	I	397;168	ENSP00000011619:V397I	ENSP00000011619:V397I	V	-	1	0	RANBP9	13750726	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.445000	0.80570	2.708000	0.92522	0.563000	0.77884	GTT		0.363	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			15	32	0	0	0	1	0	15	32					T	13642747	C	T	13642747	3	4	386	1	0	0	0	0	1	0	0	0	13032	536	19	1	1032	1	RANBP9	6	13642747	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		13642747	157472320	21	34779											
PKHD1	5314	broad.mit.edu	37	chr6	51656142	51656142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atacagccctttgaagaatgGaagatctgtatccacaagga	9	8	1	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:51656142G>A	ENST00000371117.3	-	53	8607	c.8332C>T	c.(8332-8334)Cca>Tca	p.P2778S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2778	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				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)					TTGAAGAATGGAAGATCTGTA	0.453																																						ENST00000371117.3																			0				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						c.(8332-8334)Cca>Tca		polycystic kidney and hepatic disease 1 (autosomal recessive)							126	106	113					6																	51656142		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51656142G>A	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.8332C>T	6.37:g.51656142G>A	ENSP00000360158:p.Pro2778Ser					PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			53	8607	-	Lung NSC(77;0.0605)		2778			G8 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8332C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688109	0.68271	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89617	-2.54;-2.54	5.68	5.68	0.88126	G8 domain (2);	0.000000	0.64402	D	0.000001	D	0.93802	0.8018	M	0.74881	2.28	0.44085	D	0.996842	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.93773	0.7077	10	0.66056	D	0.02	.	18.7707	0.91890	0.0:0.0:1.0:0.0	.	2778;2778;2778	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	2778	ENSP00000360158:P2778S;ENSP00000341097:P2778S	ENSP00000341097:P2778S	P	-	1	0	PKHD1	51764101	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	6.537000	0.73847	2.680000	0.91292	0.655000	0.94253	CCA		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	25	0	0	0	1	0	14	25					A	51656142	G	A	51656142	3	1	386	1	0	0	0	0	1	0	0	0	11971	1174	41	2	3991	2	PKHD1	6	51656142	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	38013395	51656142	119458925	22	34780											
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcacagttaggtccaGcataattttcgttacaaatg	6	9	1	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				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						c.(484-486)gCt>gTt		laminin, alpha 4							282	295	291					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		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.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	338	0	0	0	1	0	5	338					A	112522827	G	A	112522827	3	1	386	1	0	0	0	0	1	0	0	0	8608	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	60866685	112522827	58592240	23	34781											
TAAR8	83551	broad.mit.edu	37	chr6	132874647	132874647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttatttcatggttaccGtatacagttgatatattaat	6	4	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:132874647G>A	ENST00000275200.1	+	1	816	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	272					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)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CATGGTTACCGTATACAGTTG	0.413																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(814-816)ccG>ccA		trace amine associated receptor 8							166	171	169					6																	132874647		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874647G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"GPCR / Class A : Trace amine associated receptors"	14964	protein-coding gene	gene with protein product		606927	"trace amine receptor 5"	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.816G>A	6.37:g.132874647G>A							p.P272P	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	816	+	Breast(56;0.112)		272					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.816G>A	CCDS5154.1																																																																																				0.413	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		4	105	0	0	0	1	0	4	105					A	132874647	G	A	132874647	2	1	386	1	0	0	0	0	0	0	0	1	15490	1132	40	1		1	TAAR8	6	132874647	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	20351820	132874647	38240420	24	34782											
ADAP1	11033	broad.mit.edu	37	chr7	944779	944779	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaactgcccgttgtcccggCcacgcttccagagaaaaccc	8	16	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:944779C>G	ENST00000265846.5	-	5	638	c.419G>C	c.(418-420)gGc>gCc	p.G140A	ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	140	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTTGTCCCGGCCACGCTTCCA	0.552																																						ENST00000265846.5																			0				endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(418-420)gGc>gCc		ArfGAP with dual PH domains 1							61	62	61					7																	944779		2190	4288	6478	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:944779C>G	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.419G>C	7.37:g.944779C>G	ENSP00000265846:p.Gly140Ala					ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000463358.1_5'UTR	p.G140A	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN			5	638	-			140			PH 1.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.419G>C	CCDS5318.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	21.7|21.7|21.7	4.194441|4.194441|4.194441	0.78902|0.78902|0.78902	.|.|.	.|.|.	ENSG00000105963|ENSG00000105963|ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823|ENST00000265846;ENST00000449296;ENST00000538188;ENST00000539900;ENST00000435943|ENST00000454383	.|T;T;T;T|.	.|0.36878|.	.|1.23;1.23;1.23;1.47|.	3.98|3.98|3.98	3.98|3.98|3.98	0.46160|0.46160|0.46160	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77651|0.77651|0.77651	0.4162|0.4162|0.4162	M|M|M	0.82630|0.82630|0.82630	2.6|2.6|2.6	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|0.999;1.0|.	.|D;D|.	.|0.91635|.	.|0.929;0.999|.	T|T|T	0.80953|0.80953|0.80953	-0.1152|-0.1152|-0.1152	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-36.1778|-36.1778|-36.1778	16.2792|16.2792|16.2792	0.82664|0.82664|0.82664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|45;140|.	.|B4DUZ7;O75689|.	.|.;ADAP1_HUMAN|.	P|A|C	123;74;83|140;68;45;151;127|80	.|ENSP00000265846:G140A;ENSP00000407267:G68A;ENSP00000442682:G151A;ENSP00000394973:G127A|.	.|ENSP00000265846:G140A|.	A|G|W	-|-|-	1|2|3	0|0|0	ADAP1|ADAP1|ADAP1	911305|911305|911305	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.837000|0.837000|0.837000	0.47467|0.47467|0.47467	7.336000|7.336000|7.336000	0.79245|0.79245|0.79245	2.052000|2.052000|2.052000	0.61016|0.61016|0.61016	0.450000|0.450000|0.450000	0.29827|0.29827|0.29827	GCC|GGC|TGG		0.552	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		13	88	0	0	0	1	0	13	88					G	944779	C	G	944779	3	3	386	1	0	0	0	0	1	0	0	0	279	739	26	4	733	4	ADAP1	7	944779	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		944779	158193884	25	34783											
THSD7A	221981	broad.mit.edu	37	chr7	11452289	11452289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatccatgtacctgttaCattataatcatagtggtagc	8	7	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:11452289C>T	ENST00000423059.4	-	18	3927	c.3676G>A	c.(3676-3678)Gta>Ata	p.V1226I	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1226	TSP type-1 12. {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)		GTACCTGTTACATTATAATCA	0.423										HNSCC(18;0.044)																												ENST00000423059.3																			0				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						c.(3676-3678)Gta>Ata		thrombospondin, type I, domain containing 7A							124	114	117					7																	11452289		1931	4135	6066	SO:0001583	missense	221981					integral to membrane		g.chr7:11452289C>T		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.3676G>A	7.37:g.11452289C>T	ENSP00000406482:p.Val1226Ile	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	p.V1226I	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	18	3927	-			1226			TSP type-1 12.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3676G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638978	0.29157	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61392	0.11	5.39	5.39	0.77823	.	0.052062	0.85682	D	0.000000	T	0.37046	0.0989	N	0.03891	-0.335	0.46849	D	0.999224	B	0.15141	0.012	B	0.17722	0.019	T	0.20240	-1.0281	10	0.19590	T	0.45	.	19.1635	0.93544	0.0:1.0:0.0:0.0	.	1226	Q9UPZ6	THS7A_HUMAN	I	1226	ENSP00000406482:V1226I	ENSP00000262042:V1226I	V	-	1	0	THSD7A	11418814	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.867000	0.56047	2.528000	0.85240	0.585000	0.79938	GTA		0.423	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	32	0	0	0	1	0	3	32					T	11452289	C	T	11452289	3	4	386	1	0	0	0	0	1	0	0	0	15876	478	17	2	1341	2	THSD7A	7	11452289	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	10507510	11452289	147686374	26	34784											
GRM3	2913	broad.mit.edu	37	chr7	86469169	86469169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatgtacaccacgtgcaTcatctggttggccttcctcc	7	15	2	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:86469169T>C	ENST00000361669.2	+	4	3438	c.2339T>C	c.(2338-2340)aTc>aCc	p.I780T	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	780					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)					ACCACGTGCATCATCTGGTTG	0.413																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				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						c.(2338-2340)aTc>aCc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						118	110	113					7																	86469169		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86469169T>C		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.2339T>C	7.37:g.86469169T>C	ENSP00000355316:p.Ile780Thr					GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T	p.I780T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3438	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		780					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2339T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560711	0.65538	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89875	-2.58;-2.58;-2.58	5.64	5.64	0.86602	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.95277	0.8382	10	0.87932	D	0	.	15.0346	0.71734	0.0:0.0:0.0:1.0	.	372;652;780	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	T	780;372;652	ENSP00000355316:I780T;ENSP00000444064:I372T;ENSP00000441407:I652T	ENSP00000355316:I780T	I	+	2	0	GRM3	86307105	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.040000	0.89188	2.148000	0.66965	0.460000	0.39030	ATC		0.413	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			5	135	0	0	0	1	0	5	135					C	86469169	T	C	86469169	3	2	386	1	0	0	0	0	1	0	0	0	6798	1435	50	3	2349	3	GRM3	7	86469169	Missense_Mutation	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	75016880	86469169	72669494	27	34785											
GRM8	2918	broad.mit.edu	37	chr7	126173225	126173225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtcacacttgagcactccCctggccttctctggatctag	8	14	3	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:126173225C>T	ENST00000339582.2	-	9	3019	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	GRM8_ENST00000358373.3_Silent_p.R737R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R737R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	737					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)				TGAGCACTCCCCTGGCCTTCT	0.473										HNSCC(24;0.065)																												ENST00000339582.2																			0				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						c.(2209-2211)agG>agA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						108	92	98					7																	126173225		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173225C>T		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.2211G>A	7.37:g.126173225C>T		HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R737R|GRM8_ENST00000358373.3_Silent_p.R737R	p.R737R			O00222	GRM8_HUMAN			9	3019	-		Prostate(267;0.186)	737					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2211G>A	CCDS5794.1																																																																																				0.473	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			8	37	0	0	0	1	0	8	37					T	126173225	C	T	126173225	2	4	386	1	0	0	0	0	0	0	0	1	6803	622	22	2		2	GRM8	7	126173225	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	39704056	126173225	32965438	28	34786											
ADCK2	90956	broad.mit.edu	37	chr7	140374051	140374051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaccaacctcatctcCgtggcagtgaaagtaagtgt	11	11	2	1	rs375145073		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:140374051C>T	ENST00000072869.4	+	1	1099	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ADCK2_ENST00000476491.1_Silent_p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTCATCTCCGTGGCAGTGA	0.552																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(919-921)tcC>tcT		aarF domain containing kinase 2							43	46	45					7																	140374051		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374051C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.921C>T	7.37:g.140374051C>T						ADCK2_ENST00000476491.1_Silent_p.S307S	p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	1099	+	Melanoma(164;0.00956)		307		S -> P (in dbSNP:rs1140034).	Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.921C>T	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	5.448	0.267769	0.10294	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.06	-8.12	0.01078	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50980	-0.8763	4	.	.	.	-10.3382	2.17	0.03847	0.3345:0.3283:0.0747:0.2625	.	.	.	.	C	145	.	.	R	+	1	0	ADCK2	140020520	0.000000	0.05858	0.072000	0.20136	0.609000	0.37215	-5.139000	0.00147	-4.175000	0.00067	-0.367000	0.07326	CGT		0.552	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		11	80	0	0	0	1	0	11	80					T	140374051	C	T	140374051	2	4	386	1	0	0	0	0	0	0	0	1	289	639	23	1		1	ADCK2	7	140374051	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	14200826	140374051	18764612	29	34787											
SGK223	157285	broad.mit.edu	37	chr8	8175831	8175831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcagggcccgcttcatgtCgatccagttgtgcagcgtgc	12	13	2	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:8175831C>T	ENST00000520004.1	-	6	4318	c.4054G>A	c.(4054-4056)Gac>Aac	p.D1352N	SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N			Q86YV5	SG223_HUMAN		1356							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CGCTTCATGTCGATCCAGTTG	0.677																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(4054-4056)Gac>Aac									93	106	102					8																	8175831		2135	4231	6366	SO:0001583	missense	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175831C>T																												ENST00000520004.1:c.4054G>A	8.37:g.8175831C>T	ENSP00000428054:p.Asp1352Asn					SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N	p.D1352N			Q86YV5	SG223_HUMAN			6	4318	-			1352					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4054G>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883748	0.91814	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.12672	2.66;2.66	5.39	4.46	0.54185	Protein kinase-like domain (1);	0.045266	0.85682	D	0.000000	T	0.29684	0.0741	L	0.52011	1.625	0.54753	D	0.999989	D	0.89917	1.0	D	0.64410	0.925	T	0.00673	-1.1616	10	0.52906	T	0.07	.	15.9422	0.79763	0.0:0.8654:0.1346:0.0	.	1352	Q86YV5	SG223_HUMAN	N	1352	ENSP00000330930:D1352N;ENSP00000428054:D1352N	ENSP00000330930:D1352N	D	-	1	0	AC068353.1	8213241	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.910000	0.56371	2.701000	0.92244	0.462000	0.41574	GAC		0.677	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			70	84	0	0	0	1	0	70	84					T	8175831	C	T	8175831	3	4	386	1	0	0	0	0	1	0	0	0	14210	884	31	1	158	1	SGK223	8	8175831	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		8175831	138188191	30	34788											
LGI3	203190	broad.mit.edu	37	chr8	22006354	22006354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgcgcacgcgctgcggGtcaatgtcttgcagcctggt	15	12	2	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:22006354G>A	ENST00000306317.2	-	8	1255	c.966C>T	c.(964-966)gaC>gaT	p.D322D	LGI3_ENST00000424267.2_Silent_p.D298D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	322					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)		CGCGCTGCGGGTCAATGTCTT	0.612																																						ENST00000306317.2																			0				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(964-966)gaC>gaT		leucine-rich repeat LGI family, member 3							90	73	79					8																	22006354		2203	4300	6503	SO:0001819	synonymous_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22006354G>A	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.966C>T	8.37:g.22006354G>A						LGI3_ENST00000424267.2_Silent_p.D298D	p.D322D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1255	-			322					A5PLP2|Q86TL4|Q8N296	Silent	SNP	ENST00000306317.2	37	c.966C>T	CCDS6025.1																																																																																				0.612	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1			16	16	0	0	0	1	0	16	16					A	22006354	G	A	22006354	2	1	386	1	0	0	0	0	0	0	0	1	8753	1252	44	2		2	LGI3	8	22006354	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	13830523	22006354	124357668	31	34789											
PURG	29942	broad.mit.edu	37	chr8	30854163	30854163	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttccttatgcttgatttgAcaacagtgaaaaaggttgat	9	5	0	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:30854163A>T	ENST00000339382.2	-	2	1847	c.915T>A	c.(913-915)tgT>tgA	p.C305*		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTGATTTGACAACAGTGAA	0.338																																						ENST00000339382.2																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12						c.(913-915)tgT>tgA		purine-rich element binding protein G							222	211	215					8																	30854163		2203	4300	6503	SO:0001587	stop_gained	29942					nucleus	DNA binding	g.chr8:30854163A>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000339382.2:c.915T>A	8.37:g.30854163A>T	ENSP00000345168:p.Cys305*						p.C305*	NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	2	1847	-			0					Q8TE64	Nonsense_Mutation	SNP	ENST00000339382.2	37	c.915T>A	CCDS34878.1	.	.	.	.	.	.	.	.	.	.	A	43	10.065654	0.99329	.	.	ENSG00000172733	ENST00000339382	.	.	.	5.25	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	7.3862	0.26884	0.8135:0.0:0.1865:0.0	.	.	.	.	X	305	.	ENSP00000345168:C305X	C	-	3	2	PURG	30973705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.652000	0.37313	0.907000	0.36646	0.482000	0.46254	TGT		0.338	PURG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348564.1	NM_013357		14	46	0	0	0	1	0	14	46					T	30854163	A	T	30854163	4	4	386	1	0	0	0	0	0	1	0	0	12829	273	10	5	57	5	PURG	8	30854163	Nonsense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08	8847809	30854163	115509859	32	34790											
RB1CC1	9821	broad.mit.edu	37	chr8	53596200	53596200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccatgtcattttctgtcGaaaaggtagttttaggaata	8	5	2	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:53596200G>A	ENST00000025008.5	-	5	801	c.278C>T	c.(277-279)tCg>tTg	p.S93L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	93					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)				ATTTTCTGTCGAAAAGGTAGT	0.323																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				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						c.(277-279)tCg>tTg		RB1-inducible coiled-coil 1							58	59	58					8																	53596200		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53596200G>A	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.278C>T	8.37:g.53596200G>A	ENSP00000025008:p.Ser93Leu					RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L	p.S93L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			5	801	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	93					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.278C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121335	0.94385	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710	T;T;T	0.15718	2.4;2.4;2.4	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.31638	0.0803	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.51895	0.683;0.485	T	0.02471	-1.1154	10	0.66056	D	0.02	-11.4357	19.3152	0.94208	0.0:0.0:1.0:0.0	.	93;93	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	93;93;93;41	ENSP00000025008:S93L;ENSP00000396067:S93L;ENSP00000445960:S93L	ENSP00000025008:S93L	S	-	2	0	RB1CC1	53758753	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.420000	0.97426	2.648000	0.89879	0.563000	0.77884	TCG		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		8	31	0	0	0	1	0	8	31					A	53596200	G	A	53596200	3	1	386	1	0	0	0	0	1	0	0	0	13099	1059	37	1	4586	1	RB1CC1	8	53596200	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	22742037	53596200	92767822	33	34791											
TBC1D2	55357	broad.mit.edu	37	chr9	100963794	100963794	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaggaaggcatcccagacCcgaaggaggatgttgctaat	12	9	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:100963794C>A	ENST00000375064.1	-	11	2462	c.2424G>T	c.(2422-2424)cgG>cgT	p.R808R	TBC1D2_ENST00000375066.5_Silent_p.R808R|TBC1D2_ENST00000342112.5_Silent_p.R590R|TBC1D2_ENST00000375063.1_Silent_p.R348R	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	808	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CATCCCAGACCCGAAGGAGGA	0.607																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2422-2424)cgG>cgT		TBC1 domain family, member 2							111	78	89					9																	100963794		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100963794C>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2424G>T	9.37:g.100963794C>A						TBC1D2_ENST00000375063.1_Silent_p.R348R|TBC1D2_ENST00000375064.1_Silent_p.R808R|TBC1D2_ENST00000342112.5_Silent_p.R590R	p.R808R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	11	2515	-		Myeloproliferative disorder(762;0.0255)	808			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.2424G>T																																																																																					0.607	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		5	23	1	0	0.000602214	1	0.000615165	5	23					A	100963794	C	A	100963794	2	1	386	1	0	0	0	0	0	0	0	1	15605	610	22	4		4	TBC1D2	9	100963794	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		100963794	40249637	34	34792											
OR1L8	138881	broad.mit.edu	37	chr9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtcacagaaggtgagaCgattcagcagaagtgtgtgc	15	6	2	3	rs373426364		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166						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)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(496-498)cGt>cAt		olfactory receptor, family 1, subfamily L, member 8							154	116	129					9																	125330260		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330260C>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.497G>A	9.37:g.125330260C>T	ENSP00000306607:p.Arg166His						p.R166H	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	578	-			166					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.497G>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872590	0.33069	.	.	ENSG00000171496	ENST00000304865	T	0.00169	8.63	4.49	-8.98	0.00754	GPCR, rhodopsin-like superfamily (1);	2.578920	0.01572	N	0.020616	T	0.00144	0.0004	L	0.42632	1.34	0.09310	N	1	B	0.19583	0.037	B	0.21708	0.036	T	0.32851	-0.9891	10	0.54805	T	0.06	2.0917	5.8837	0.18870	0.4193:0.1963:0.0:0.3844	.	166	Q8NGR8	OR1L8_HUMAN	H	166	ENSP00000306607:R166H	ENSP00000306607:R166H	R	-	2	0	OR1L8	124370081	0.000000	0.05858	0.000000	0.03702	0.927000	0.56198	-1.955000	0.01523	-2.450000	0.00543	-0.582000	0.04134	CGT		0.498	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			11	38	0	0	0	1	0	11	38					T	125330260	C	T	125330260	3	4	386	1	0	0	0	0	1	0	0	0	10967	536	19	1	436	1	OR1L8	9	125330260	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	24366466	125330260	15883171	35	34793											
INA	9118	broad.mit.edu	37	chr10	105037228	105037228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgcgcaccaacgagtAcaagatcatccgcaccaacg	11	15	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr10:105037228A>G	ENST00000369849.4	+	1	309	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	87	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAACGAGTACAAGATCATC	0.682																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(259-261)tAc>tGc		internexin neuronal intermediate filament protein, alpha							27	27	27					10																	105037228		2150	4166	6316	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037228A>G	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.260A>G	10.37:g.105037228A>G	ENSP00000358865:p.Tyr87Cys						p.Y87C	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	309	+			87			Head.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.260A>G	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297065	0.60086	.	.	ENSG00000148798	ENST00000369849	D	0.84800	-1.9	4.03	4.03	0.46877	Intermediate filament head, DNA-binding domain (1);	0.062472	0.64402	D	0.000003	D	0.88596	0.6479	L	0.58810	1.83	0.39135	D	0.961934	D	0.65815	0.995	D	0.67231	0.95	D	0.89430	0.3716	10	0.87932	D	0	.	8.4235	0.32714	0.8249:0.0:0.0:0.1751	.	87	Q16352	AINX_HUMAN	C	87	ENSP00000358865:Y87C	ENSP00000358865:Y87C	Y	+	2	0	INA	105027218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.840000	0.48215	1.810000	0.52873	0.379000	0.24179	TAC		0.682	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		4	10	0	0	0	1	0	4	10					G	105037228	A	G	105037228	3	3	386	1	0	0	0	0	1	0	0	0	7730	391	14	3	262	3	INA	10	105037228	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		105037228	30497519	36	34794											
OR52M1	119772	broad.mit.edu	37	chr11	4566788	4566788	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgccatggcttttgAtcgctacgtggccatctgca	9	13	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:4566788A>C	ENST00000360213.1	+	1	368	c.368A>C	c.(367-369)gAt>gCt	p.D123A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	123						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(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGATCGCTACGTG	0.537																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(367-369)gAt>gCt		olfactory receptor, family 52, subfamily M, member 1							146	127	134					11																	4566788		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566788A>C	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.368A>C	11.37:g.4566788A>C	ENSP00000353343:p.Asp123Ala						p.D123A	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	368	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	123						Missense_Mutation	SNP	ENST00000360213.1	37	c.368A>C	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712275	0.68730	.	.	ENSG00000197790	ENST00000360213	T	0.57107	0.42	4.98	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	D	0.83585	0.5286	H	0.99842	4.835	0.41016	D	0.985046	D	0.89917	1.0	D	0.87578	0.998	D	0.87208	0.2245	10	0.87932	D	0	.	9.8023	0.40773	0.9176:0.0:0.0824:0.0	.	123	Q8NGK5	O52M1_HUMAN	A	123	ENSP00000353343:D123A	ENSP00000353343:D123A	D	+	2	0	OR52M1	4523364	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	6.034000	0.70933	1.030000	0.39839	0.528000	0.53228	GAT		0.537	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		29	29	0	0	0	1	0	29	29					C	4566788	A	C	4566788	3	2	386	1	0	0	0	0	1	0	0	0	11126	333	12	5	370	5	OR52M1	11	4566788	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		4566788	130439728	37	34795											
OR52E2	119678	broad.mit.edu	37	chr11	5080741	5080741	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaagttccctatgagtgcGatcatgtacacagcacagaa	10	9	1	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:5080741G>A	ENST00000321522.2	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	39						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)		CTATGAGTGCGATCATGTACA	0.512																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(115-117)atC>atT		olfactory receptor, family 52, subfamily E, member 2							122	108	113					11																	5080741		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080741G>A	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.117C>T	11.37:g.5080741G>A							p.I39I	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	116	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	39						Silent	SNP	ENST00000321522.2	37	c.117C>T	CCDS31371.1																																																																																				0.512	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		5	30	0	0	0	1	0	5	30					A	5080741	G	A	5080741	2	1	386	1	0	0	0	0	0	0	0	1	11115	1048	37	1		1	OR52E2	11	5080741	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	513953	5080741	129925775	38	34796											
HPS5	11234	broad.mit.edu	37	chr11	18309134	18309134	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctaaataggccaaaaactCagcaggatgatgatgacaaa	9	7	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:18309134C>T	ENST00000349215.3	-	18	2942	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000396253.3_Missense_Mutation_p.E775K	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	889					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCAAAAACTCAGCAGGATGA	0.428									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2323-2325)Gag>Aag		Hermansky-Pudlak syndrome 5							92	89	90					11																	18309134		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18309134C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2665G>A	11.37:g.18309134C>T	ENSP00000265967:p.Glu889Lys					HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.E889K	p.E775K	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			17	2785	-			889					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.2323G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.535907	0.64972	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000544218	T;T;T	0.55234	0.53;0.53;0.54	4.94	4.01	0.46588	.	0.392508	0.23698	N	0.045443	T	0.40670	0.1126	N	0.22421	0.69	0.80722	D	1	B	0.20261	0.043	B	0.17722	0.019	T	0.27262	-1.0079	10	0.49607	T	0.09	.	15.1339	0.72549	0.0:0.1637:0.8362:0.0	.	889	Q9UPZ3	HPS5_HUMAN	K	775;775;889;75	ENSP00000379552:E775K;ENSP00000399590:E775K;ENSP00000265967:E889K	ENSP00000265967:E889K	E	-	1	0	HPS5	18265710	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.480000	0.45206	1.260000	0.44134	-0.310000	0.09108	GAG		0.428	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		15	46	0	0	0	1	0	15	46					T	18309134	C	T	18309134	3	4	386	1	0	0	0	0	1	0	0	0	7342	835	29	2	748	2	HPS5	11	18309134	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	13228393	18309134	116697382	39	34797											
PAMR1	25891	broad.mit.edu	37	chr11	35463135	35463135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaaagaaagacaccacGgtgccaattttagcatggcg	9	9	0	2	rs150252565		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:35463135G>A	ENST00000378880.2	-	7	1372	c.927C>T	c.(925-927)acC>acT	p.T309T	PAMR1_ENST00000532848.1_Silent_p.T269T|PAMR1_ENST00000378878.3_Silent_p.T198T|PAMR1_ENST00000278360.3_Silent_p.T326T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	309	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGACACCACGGTGCCAATTT	0.493																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(925-927)acC>acT		peptidase domain containing associated with muscle regeneration 1		G	,	1,4403	2.1+/-5.4	0,1,2201	132	130	131		927,978	-11.5	0	11	dbSNP_134	131	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	PAMR1	NM_001001991.1,NM_015430.2	,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,	309/721,326/738	35463135	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35463135G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.927C>T	11.37:g.35463135G>A						PAMR1_ENST00000378878.3_Silent_p.T198T|PAMR1_ENST00000278360.3_Silent_p.T326T|PAMR1_ENST00000532848.1_Silent_p.T269T	p.T309T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			7	1372	-			309			Sushi 1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.927C>T	CCDS31460.1																																																																																				0.493	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		19	83	0	0	0	1	0	19	83					A	35463135	G	A	35463135	2	1	386	1	0	0	0	0	0	0	0	1	11413	1103	39	1		1	PAMR1	11	35463135	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	17154001	35463135	99543381	40	34798											
CWC15	55693	broad.mit.edu	37	chr11	94704160	94704160	+	5'Flank	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catctgttagagggtcatctGcatcaaggttggcggcagga	14	8	4	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:94704160G>C	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Missense_Mutation_p.A105G|CWC15_ENST00000545018.1_5'UTR|KDM4D_ENST00000536741.1_5'Flank	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGGTCATCTGCATCAAGGTT	0.378																																						ENST00000279839.6																			0											c.(313-315)gCa>gGa		CWC15 spliceosome-associated protein homolog (S. cerevisiae)							185	181	182					11																	94704160		1867	4095	5962	SO:0001631	upstream_gene_variant	51503				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding	g.chr11:94704160G>C	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704160G>C	Exception_encountered					CWC15_ENST00000545018.1_5'UTR	p.A105G	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN			4	436	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	105					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.314C>G	CCDS8302.1																																																																																				0.378	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		11	135	0	0	0	1	0	11	135					C	94704160	G	C	94704160	1	2	386	0	1	0	0	0	0	0	0	0	4067	1319	46	4		4	CWC15	11	94704160	5'Flank	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	59241025	94704160	40302356	41	34799											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343448	130343448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagtggcctgcagaagcGggcggtggactgccggggct	20	11	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:130343448G>A	ENST00000299164.2	+	8	2585	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	862	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTGCAGAAGCGGGCGGTGGAC	0.746																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2584-2586)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							13	18	16					11																	130343448		2131	4192	6323	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343448G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2585G>A	11.37:g.130343448G>A	ENSP00000299164:p.Arg862Gln						p.R862Q	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2585	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	862			TSP type-1 2.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2585G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606674	0.87157	.	.	ENSG00000166106	ENST00000299164	T	0.80738	-1.41	5.78	5.78	0.91487	.	.	.	.	.	D	0.93983	0.8073	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95211	0.8325	9	0.62326	D	0.03	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	862	Q8TE58	ATS15_HUMAN	Q	862	ENSP00000299164:R862Q	ENSP00000299164:R862Q	R	+	2	0	ADAMTS15	129848658	1.000000	0.71417	0.482000	0.27366	0.267000	0.26476	9.339000	0.96797	2.744000	0.94065	0.563000	0.77884	CGG		0.746	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		19	25	0	0	0	1	0	19	25					A	130343448	G	A	130343448	3	1	386	1	0	0	0	0	1	0	0	0	260	1116	39	1	2615	1	ADAMTS15	11	130343448	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	35639288	130343448	4663068	42	34800											
NTF3	4908	broad.mit.edu	37	chr12	5603421	5603421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatttctcgcttatctccGtggcatccaaggtaacaaca	7	11	2	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:5603421G>A	ENST00000331010.6	+	1	124	c.41G>A	c.(40-42)cGt>cAt	p.R14H	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R27H	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	14					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|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 glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GCTTATCTCCGTGGCATCCAA	0.418																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(79-81)cGt>cAt		neurotrophin 3							118	113	114					12																	5603421		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603421G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.41G>A	12.37:g.5603421G>A	ENSP00000328738:p.Arg14His					NTF3_ENST00000331010.6_Missense_Mutation_p.R14H|NTF3_ENST00000535299.1_Intron	p.R27H	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	292	+			14					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.80G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543988	0.65198	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.46063	0.88;0.88	4.79	4.79	0.61399	.	0.143272	0.49916	D	0.000131	T	0.36331	0.0963	L	0.59436	1.845	0.41172	D	0.986175	P;P	0.42296	0.775;0.775	B;B	0.27500	0.08;0.08	T	0.49978	-0.8881	10	0.62326	D	0.03	-13.7935	17.0016	0.86382	0.0:0.0:1.0:0.0	.	14;27	P20783;B7Z1T5	NTF3_HUMAN;.	H	27;14	ENSP00000397297:R27H;ENSP00000328738:R14H	ENSP00000328738:R14H	R	+	2	0	NTF3	5473682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.752000	0.74898	2.504000	0.84457	0.591000	0.81541	CGT		0.418	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			5	72	0	0	0	1	0	5	72					A	5603421	G	A	5603421	3	1	386	1	0	0	0	0	1	0	0	0	10696	1145	40	1	86	1	NTF3	12	5603421	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		5603421	128248474	43	34801											
CD163L1	283316	broad.mit.edu	37	chr12	7526068	7526068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttagataaaggggcgaggCtgacaactccattctcccca	9	12	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:7526068C>T	ENST00000313599.3	-	14	3635	c.3578G>A	c.(3577-3579)aGc>aAc	p.S1193N	CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1193	SRCR 11. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGGGCGAGGCTGACAACTCC	0.552																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3577-3579)aGc>aAc		CD163 molecule-like 1							154	128	136					12																	7526068		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7526068C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3578G>A	12.37:g.7526068C>T	ENSP00000315945:p.Ser1193Asn					CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N	p.S1193N			Q9NR16	C163B_HUMAN			14	3635	-			1193			SRCR 11.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3578G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.083255	0.00371	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.28895	1.59;1.59;1.59	2.11	-2.0	0.07433	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.225440	0.06230	U	0.688571	T	0.15696	0.0378	N	0.17082	0.46	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.17979	0.02;0.009	T	0.30446	-0.9978	10	0.10111	T	0.7	.	6.1487	0.20301	0.0:0.3472:0.0:0.6528	.	1203;1193	E7EVK4;Q9NR16	.;C163B_HUMAN	N	1193;1203;1193	ENSP00000315945:S1193N;ENSP00000393474:S1203N;ENSP00000379871:S1193N	ENSP00000315945:S1193N	S	-	2	0	CD163L1	7417335	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.080000	0.01368	-0.632000	0.05553	0.557000	0.71058	AGC		0.552	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		27	90	0	0	0	1	0	27	90					T	7526068	C	T	7526068	3	4	386	1	0	0	0	0	1	0	0	0	2968	797	28	2	807	2	CD163L1	12	7526068	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	1922647	7526068	126325827	44	34802											
KLRB1	3820	broad.mit.edu	37	chr12	9760369	9760369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccgaggaagagatgaagGtgaagaactttctgggcctg	14	8	1	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:9760369G>T	ENST00000229402.3	-	1	113	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	23					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						AGAGATGAAGGTGAAGAACTT	0.413																																						ENST00000229402.3																			0				endometrium(2)|large_intestine(6)|lung(4)	12						c.(67-69)Cct>Act		killer cell lectin-like receptor subfamily B, member 1							204	164	178					12																	9760369		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9760369G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"Killer cell lectin-like receptors", "CD molecules", "C-type lectin domain containing"	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.67C>A	12.37:g.9760369G>T	ENSP00000229402:p.Pro23Thr						p.P23T	NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN			1	113	-			23					Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.67C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214851	0.39102	.	.	ENSG00000111796	ENST00000229402	T	0.35048	1.33	2.89	1.99	0.26369	.	0.000000	0.39615	N	0.001310	T	0.36303	0.0962	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.57425	0.82	T	0.07233	-1.0783	10	0.37606	T	0.19	-0.1412	5.7216	0.17990	0.1509:0.0:0.8491:0.0	.	23	Q12918	KLRB1_HUMAN	T	23	ENSP00000229402:P23T	ENSP00000229402:P23T	P	-	1	0	KLRB1	9651636	0.357000	0.24938	0.020000	0.16555	0.247000	0.25773	0.487000	0.22356	0.778000	0.33520	0.591000	0.81541	CCT		0.413	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		8	65	1	0	3.09899e-07	1	3.2352e-07	8	65					T	9760369	G	T	9760369	3	4	386	1	0	0	0	0	1	0	0	0	8414	1261	44	4	633	4	KLRB1	12	9760369	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2234301	9760369	124091526	45	34803											
IGFBP6	3489	broad.mit.edu	37	chr12	53491737	53491737	+	Frame_Shift_Del	DEL	C	C	-													ggtctacacccctaactgcgCcccaggactgcagtgccatc							TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:53491737delC	ENST00000301464.3	+	1	509	c.236delC	c.(235-237)gccfs	p.A79fs	IGFBP6_ENST00000548547.1_Frame_Shift_Del_p.A79fs	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	79	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCTAACTGCGCCCCAGGACTG	0.726																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(235-237)gcfs		insulin-like growth factor binding protein 6							6	5	5					12																	53491737		2049	4077	6126	SO:0001589	frameshift_variant	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53491737delC		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.236delC	12.37:g.53491737delC	ENSP00000301464:p.Ala79fs					IGFBP6_ENST00000301464.3_Frame_Shift_Del_p.A79fs	p.A79fs			P24592	IBP6_HUMAN			1	518	+			79			IGFBP N-terminal.		Q14492	Frame_Shift_Del	DEL	ENST00000301464.3	37	c.236delC	CCDS8846.1																																																																																				0.726	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			2	4						2	4	---	---	---	---	-	53491737	C	-	53491737	7	5	386	1	0	1	0	1	0	0	0	0	7583	739	26	0	238	0	IGFBP6	12	53491737	Frame_Shift_Del	DEL	C	TCGA-QH-A6CV-01A-11D-A31L-08	43731368	53491737	80360158	46	34804											
RIMBP2	23504	broad.mit.edu	37	chr12	130919312	130919312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcctttcaggaagtcGtccaccgaggcgcccctcct	10	16	2	1	rs377575822		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:130919312G>A	ENST00000261655.4	-	11	2332	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	RIMBP2_ENST00000536002.1_Silent_p.D631D|RIMBP2_ENST00000535703.1_Silent_p.D631D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	723					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGGAAGTCGTCCACCGAGG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14673	0.0		0.0	False		,,,				2504	0.0					ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2167-2169)gaC>gaT		RIMS binding protein 2		G		0,4406		0,0,2203	74	82	80		2169	-6.2	0.9	12		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIMBP2	NM_015347.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		723/1053	130919312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919312G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2169C>T	12.37:g.130919312G>A						RIMBP2_ENST00000536002.1_Silent_p.D631D|RIMBP2_ENST00000535703.1_Silent_p.D631D	p.D723D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2332	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	723					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2169C>T	CCDS31925.1																																																																																				0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		20	119	0	0	0	1	0	20	119					A	130919312	G	A	130919312	2	1	386	1	0	0	0	0	0	0	0	1	13363	1136	40	1		1	RIMBP2	12	130919312	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	77427575	130919312	2932583	47	34805											
PROZ	8858	broad.mit.edu	37	chr13	113819403	113819403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgacctctgagaagcGtgcaccggatctacaggacc	13	12	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr13:113819403G>A	ENST00000375547.2	+	6	549	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PROZ_ENST00000342783.4_Missense_Mutation_p.R203H|PROZ_ENST00000493630.1_3'UTR|RP11-98F14.11_ENST00000600642.1_RNA	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|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 vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGAGAAGCGTGCACCGGAT	0.507																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(607-609)cGt>cAt		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						88	83	85					13																	113819403		2203	4300	6503	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113819403G>A	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.542G>A	13.37:g.113819403G>A	ENSP00000364697:p.Arg181His					PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.R181H|RP11-98F14.11_ENST00000600642.1_RNA	p.R203H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		7	615	+	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_lung(25;0.216)	181			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.608G>A	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	G	9.457	1.092222	0.20471	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92911	-3.13;-3.13	2.8	-1.32	0.09201	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	2.078290	0.02196	N	0.061867	T	0.82033	0.4949	N	0.14661	0.345	0.09310	N	1	P;B	0.35844	0.524;0.008	B;B	0.28139	0.086;0.0	T	0.74867	-0.3518	10	0.87932	D	0	.	3.2578	0.06837	0.431:0.2185:0.3506:0.0	.	203;181	P22891-2;P22891	.;PROZ_HUMAN	H	181;203	ENSP00000364697:R181H;ENSP00000344458:R203H	ENSP00000344458:R203H	R	+	2	0	PROZ	112867404	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.072000	0.03434	-0.231000	0.09825	0.313000	0.20887	CGT		0.507	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		5	31	0	0	0	1	0	5	31					A	113819403	G	A	113819403	3	1	386	1	0	0	0	0	1	0	0	0	12562	1145	40	1	564	1	PROZ	13	113819403	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		113819403	1350475	48	34806											
OR4K15	81127	broad.mit.edu	37	chr14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagactttctggttgagcGcaagactatttcttttgatg	10	7	2	4	rs139377821	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22221	0.0		0.0	False		,,,				2504	0.0					ENST00000305051.5																			1	Substitution - Missense(1)	p.R113H(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(337-339)cGc>cAc		olfactory receptor, family 4, subfamily K, member 15							127	132	130					14																	20444015		2203	4297	6500	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444015G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.338G>A	14.37:g.20444015G>A	ENSP00000304077:p.Arg113His						p.R113H	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	413	+	all_cancers(95;0.00108)		113					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.338G>A	CCDS32026.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	0.001	-3.250918	0.00022	.	.	ENSG00000169488	ENST00000305051	T	0.01584	4.75	3.6	-6.57	0.01842	GPCR, rhodopsin-like superfamily (1);	1.002150	0.08047	N	0.996093	T	0.00754	0.0025	N	0.04655	-0.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	10	0.02654	T	1	.	7.8035	0.29189	0.5872:0.0:0.3023:0.1105	.	113	Q8NH41	OR4KF_HUMAN	H	113	ENSP00000304077:R113H	ENSP00000304077:R113H	R	+	2	0	OR4K15	19513855	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.348000	0.00503	-1.617000	0.01570	-2.550000	0.00177	CGC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			18	65	0	0	0	1	0	18	65					A	20444015	G	A	20444015	3	1	386	1	0	0	0	0	1	0	0	0	11070	1087	38	1	340	1	OR4K15	14	20444015	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		20444015	86905525	49	34807											
OCA2	4948	broad.mit.edu	37	chr15	28259949	28259949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcagcgcgtagacgccCgcgaggatggccgtcgcgat	15	12	1	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:28259949C>T	ENST00000354638.3	-	9	1172	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	OCA2_ENST00000353809.5_Silent_p.A339A|OCA2_ENST00000382996.2_Silent_p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	339					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTAGACGCCCGCGAGGATGG	0.587									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1015-1017)gcG>gcA		oculocutaneous albinism II							74	67	69					15																	28259949		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28259949C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1017G>A	15.37:g.28259949C>T						OCA2_ENST00000382996.2_Silent_p.A339A|OCA2_ENST00000353809.5_Silent_p.A339A	p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	9	1172	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	339					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1017G>A	CCDS10020.1																																																																																				0.587	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		14	30	0	0	0	1	0	14	30					T	28259949	C	T	28259949	2	4	386	1	0	0	0	0	0	0	0	1	10815	639	23	1		1	OCA2	15	28259949	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		28259949	74271443	50	34808											
RASGRF1	5923	broad.mit.edu	37	chr15	79310181	79310181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaggatgactgtaaagggCggggaatcctttggctccac	13	9	0	1	rs146264269	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:79310181C>T	ENST00000419573.3	-	12	1948	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	RASGRF1_ENST00000558480.2_Silent_p.P558P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	558	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P558P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTAAAGGGCGGGGAATCCT	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18128	0.0		0.001	False		,,,				2504	0.0					ENST00000419573.3																			1	Substitution - coding silent(1)	p.P558P(1)	central_nervous_system(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1672-1674)ccG>ccA		Ras protein-specific guanine nucleotide-releasing factor 1		C	,	2,4390	4.2+/-10.8	0,2,2194	127	113	118		1674,1674	-9.5	0	15	dbSNP_134	118	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous	RASGRF1	NM_001145648.1,NM_002891.4	,	0,2,6487	TT,TC,CC		0.0,0.0455,0.0154	,	558/1258,558/1274	79310181	2,12976	2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79310181C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1674G>A	15.37:g.79310181C>T						RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P558P	p.P558P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			12	1948	-			558			PH 2.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1674G>A	CCDS10309.1																																																																																				0.512	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		27	49	0	0	0	1	0	27	49					T	79310181	C	T	79310181	2	4	386	1	0	0	0	0	0	0	0	1	13072	755	27	1		1	RASGRF1	15	79310181	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	51050232	79310181	23221211	51	34809											
RSPRY1	89970	broad.mit.edu	37	chr16	57238591	57238591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgtctttggttgggcCgtgttcttagcgagcagaag	14	7	2	2	rs540967927	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr16:57238591C>T	ENST00000537866.1	+	2	894	c.21C>T	c.(19-21)gcC>gcT	p.A7A	RSPRY1_ENST00000394420.4_Silent_p.A7A			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						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						TTGGTTGGGCCGTGTTCTTAG	0.463													C|||	5	0.000998403	0.0008	0.0	5008	,	,		20701	0.001		0.0	False		,,,				2504	0.0031					ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(19-21)gcC>gcT		ring finger and SPRY domain containing 1							226	240	235					16																	57238591		2198	4300	6498	SO:0001819	synonymous_variant	89970					extracellular region	zinc ion binding	g.chr16:57238591C>T	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.21C>T	16.37:g.57238591C>T						RSPRY1_ENST00000394420.4_Silent_p.A7A	p.A7A			Q96DX4	RSPRY_HUMAN			2	894	+			7					Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	c.21C>T	CCDS10775.1																																																																																				0.463	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		36	189	0	0	0	1	0	36	189					T	57238591	C	T	57238591	2	4	386	1	0	0	0	0	0	0	0	1	13713	639	23	1		1	RSPRY1	16	57238591	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		57238591	33116162	52	34810											
MINK1	1145	broad.mit.edu	37	chr17	4798523	4798523	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaactccgagatcctctGtgcagccctttggggtaagc	10	12	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4798523G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y|MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y|MINK1_ENST00000355280.6_Missense_Mutation_p.C1024Y	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GAGATCCTCTGTGCAGCCCTT	0.597																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3070-3072)tGt>tAt		misshapen-like kinase 1							368	346	353					17																	4798523		1980	4154	6134	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798523G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798523G>A						MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y|MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y	p.C1024Y	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3267	+			1024			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3071G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020155	0.75275	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.05447	3.44;3.44;3.44	5.3	5.3	0.74995	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.64830	0.994;0.988;0.991;0.988	D;D;D;D	0.80764	0.994;0.989;0.993;0.989	T	0.01039	-1.1472	10	0.87932	D	0	.	16.4886	0.84191	0.0:0.0:1.0:0.0	.	987;1004;1024;995	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	Y	1024;1004;995	ENSP00000347427:C1024Y;ENSP00000406487:C1004Y;ENSP00000269296:C995Y	ENSP00000269296:C995Y	C	+	2	0	MINK1	4739299	1.000000	0.71417	0.914000	0.36105	0.863000	0.49368	7.404000	0.79996	2.757000	0.94681	0.655000	0.94253	TGT		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			13	38	0	0	0	1	0	13	38					A	4798523	G	A	4798523	1	1	386	0	1	0	0	0	0	0	0	0	9587	1377	48	2		2	MINK1	17	4798523	IGR	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		4798523	76396687	53	34811											
GPR172B	55065	broad.mit.edu	37	chr17	4937616	4937616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagacccaggtttcccagCgccacaaccacagagaggta	10	14	0	2	rs566207091		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4937616C>T	ENST00000424747.1	-	3	880	c.168G>A	c.(166-168)gcG>gcA	p.A56A	SLC52A1_ENST00000254853.5_Silent_p.A56A|SLC52A1_ENST00000512825.2_Silent_p.A56A	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	56					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGTTTCCCAGCGCCACAACCA	0.617													c|||	1	0.000199681	0.0	0.0	5008	,	,		19684	0.0		0.0	False		,,,				2504	0.001					ENST00000512825.2																			0											c.(166-168)gcG>gcA		solute carrier family 52 (riboflavin transporter), member 1							61	61	61					17																	4937616		2203	4300	6503	SO:0001819	synonymous_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937616C>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"Solute carriers"	30225	protein-coding gene	gene with protein product	"riboflavin transporter 1"	607883	"G protein-coupled receptor 172B"	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.168G>A	17.37:g.4937616C>T						SLC52A1_ENST00000424747.1_Silent_p.A56A|SLC52A1_ENST00000254853.5_Silent_p.A56A	p.A56A			Q9NWF4	RFT_HUMAN			3	1579	-			56					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Silent	SNP	ENST00000424747.1	37	c.168G>A	CCDS11066.1																																																																																				0.617	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		9	72	0	0	0	1	0	9	72					T	4937616	C	T	4937616	2	4	386	1	0	0	0	0	0	0	0	1	6670	755	27	1		1	GPR172B	17	4937616	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	139093	4937616	76257594	54	34812											
DNAH2	146754	broad.mit.edu	37	chr17	7700732	7700732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagagtcttctctgaccGgctggttgatgcggcagaca	12	12	2	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:7700732G>A	ENST00000572933.1	+	52	9424	c.7964G>A	c.(7963-7965)cGg>cAg	p.R2655Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2655					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)				TTCTCTGACCGGCTGGTTGAT	0.547																																						ENST00000572933.1																			0				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						c.(7963-7965)cGg>cAg		dynein, axonemal, heavy chain 2							111	114	113					17																	7700732		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700732G>A	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.7964G>A	17.37:g.7700732G>A	ENSP00000458355:p.Arg2655Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q	p.R2655Q			Q9P225	DYH2_HUMAN			52	9424	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2655					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7964G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333939	0.81801	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.44881	0.91	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87983	0.2744	10	0.87932	D	0	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	2655	Q9P225	DYH2_HUMAN	Q	2655	ENSP00000373825:R2655Q	ENSP00000353818:R2655Q	R	+	2	0	DNAH2	7641457	1.000000	0.71417	0.971000	0.41717	0.265000	0.26407	8.653000	0.91088	2.649000	0.89929	0.650000	0.86243	CGG		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	152	0	0	0	1	0	5	152					A	7700732	G	A	7700732	3	1	386	1	0	0	0	0	1	0	0	0	4602	1116	39	1	8166	1	DNAH2	17	7700732	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2763116	7700732	73494478	55	34813											
SSH2	85464	broad.mit.edu	37	chr17	27959167	27959167	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctggtatggaatcacagtCctcagatccttcaggactcc	8	13	3	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:27959167C>T	ENST00000269033.3	-	15	3115	c.2964G>A	c.(2962-2964)agG>agA	p.R988R	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.R1015R	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	988					actin cytoskeleton organization (GO:0030036)|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)|extracellular space (GO:0005615)	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)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATCACAGTCCTCAGATCCT	0.517																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2962-2964)agG>agA		slingshot protein phosphatase 2							103	94	97					17																	27959167		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959167C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2964G>A	17.37:g.27959167C>T						SSH2_ENST00000540801.1_Silent_p.R1015R|RP11-68I3.2_ENST00000581474.1_RNA	p.R988R	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	3115	-			988					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.2964G>A	CCDS11253.1																																																																																				0.517	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		8	28	0	0	0	1	0	8	28					T	27959167	C	T	27959167	2	4	386	1	0	0	0	0	0	0	0	1	15184	854	30	2		2	SSH2	17	27959167	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	20258435	27959167	53236043	56	34814											
ACACA	31	broad.mit.edu	37	chr17	35641873	35641873	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagccagacatgctggaccTataaaaatacagaagccata	7	10	0	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:35641873T>C	ENST00000394406.2	-	4	418		c.e4-2		ACACA_ENST00000353139.5_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000360679.3_Splice_Site	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						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)	ATGCTGGACCTATAAAAATAC	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				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						c.e4-2		acetyl-CoA carboxylase alpha	Biotin(DB00121)						67	74	72					17																	35641873		2203	4300	6503	SO:0001630	splice_region_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35641873T>C	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.228-2A>G	17.37:g.35641873T>C						ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000335166.5_Splice_Site		NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			4	820	-		Breast(25;0.00157)|Ovarian(249;0.15)						B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Splice_Site	SNP	ENST00000394406.2	37		CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725364	0.68959	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000451642	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5962	0.76583	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACACA	32715986	1.000000	0.71417	0.978000	0.43139	0.567000	0.35839	7.948000	0.87774	2.073000	0.62155	0.528000	0.53228	.		0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	Intron	11	62	0	0	0	1	0	11	62					C	35641873	T	C	35641873	5	2	386	1	0	0	0	0	0	0	1	0	106	1536	53	3	7026	3	ACACA	17	35641873	Splice_Site	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	7682706	35641873	45553337	57	34815											
KRT33A	3883	broad.mit.edu	37	chr17	39506828	39506828	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagctggccaggcggtcGttcaggaactgcatggtctc	15	10	2	0	rs144512034		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:39506828G>A	ENST00000007735.3	-	1	236	c.192C>T	c.(190-192)aaC>aaT	p.N64N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	64	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCAGGCGGTCGTTCAGGAACT	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18376	0.0		0.0	False		,,,				2504	0.0					ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(190-192)aaC>aaT		keratin 33A		G		0,4406		0,0,2203	100	102	102		192	-4.7	0.9	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT33A	NM_004138.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		64/405	39506828	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506828G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.192C>T	17.37:g.39506828G>A							p.N64N	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			1	236	-		Breast(137;0.000496)	64			Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.192C>T	CCDS11388.1																																																																																				0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		5	104	0	0	0	1	0	5	104					A	39506828	G	A	39506828	2	1	386	1	0	0	0	0	0	0	0	1	8469	1136	40	1		1	KRT33A	17	39506828	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	3864955	39506828	41688382	58	34816											
GRIN2C	2905	broad.mit.edu	37	chr17	72843053	72843053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtactgatcttgaggccGctgaaactgcaggcggaggg	17	8	1	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:72843053G>A	ENST00000293190.5	-	10	2154	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	670					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|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)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTGAGGCCGCTGAAACTGC	0.627																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2008-2010)Cgg>Tgg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						75	71	72					17																	72843053		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843053G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2008C>T	17.37:g.72843053G>A	ENSP00000293190:p.Arg670Trp					GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			10	2154	-	all_lung(278;0.172)|Lung NSC(278;0.207)		670					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2008C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706652	0.30232	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.54866	0.55	4.63	0.0175	0.14113	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.215433	0.38959	N	0.001519	T	0.59891	0.2227	L	0.38175	1.15	0.36363	D	0.860823	D;D	0.89917	0.999;1.0	D;D	0.70935	0.956;0.971	T	0.67573	-0.5636	10	0.87932	D	0	.	14.8013	0.69919	0.0:0.0:0.2595:0.7405	.	704;670	Q8IW23;Q14957	.;NMDE3_HUMAN	W	670;704	ENSP00000293190:R670W	ENSP00000293190:R670W	R	-	1	2	GRIN2C	70354648	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.552000	0.45828	-0.021000	0.14009	-0.314000	0.08810	CGG		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			4	90	0	0	0	1	0	4	90					A	72843053	G	A	72843053	3	1	386	1	0	0	0	0	1	0	0	0	6781	1086	38	1	1709	1	GRIN2C	17	72843053	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	33336225	72843053	8352157	59	34817											
SERPINB12	89777	broad.mit.edu	37	chr18	61234092	61234092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggaggtggatgaaaacGgtacccaggcagctgcagcc	15	9	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:61234092G>A	ENST00000269491.1	+	7	1066	c.1066G>A	c.(1066-1068)Ggt>Agt	p.G356S	SERPINB12_ENST00000382768.1_Missense_Mutation_p.G376S	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	356					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGATGAAAACGGTACCCAGGC	0.458																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(1126-1128)Ggt>Agt		serpin peptidase inhibitor, clade B (ovalbumin), member 12							77	80	79					18																	61234092		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61234092G>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1066G>A	18.37:g.61234092G>A	ENSP00000269491:p.Gly356Ser					SERPINB12_ENST00000269491.1_Missense_Mutation_p.G356S	p.G376S			Q96P63	SPB12_HUMAN			7	1126	+			356					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.1126G>A	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910658	0.72983	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.92495	-3.05;-3.05	5.81	5.81	0.92471	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.98086	0.9369	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99029	1.0820	10	0.87932	D	0	.	20.0776	0.97750	0.0:0.0:1.0:0.0	.	376;356	Q3SYB4;Q96P63	.;SPB12_HUMAN	S	356;376	ENSP00000269491:G356S;ENSP00000372218:G376S	ENSP00000269491:G356S	G	+	1	0	SERPINB12	59385072	1.000000	0.71417	0.217000	0.23759	0.022000	0.10575	9.866000	0.99616	2.754000	0.94517	0.655000	0.94253	GGT		0.458	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		11	33	0	0	0	1	0	11	33					A	61234092	G	A	61234092	3	1	386	1	0	0	0	0	1	0	0	0	14099	1116	39	1	1092	1	SERPINB12	18	61234092	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		61234092	16843156	60	34818											
RTTN	25914	broad.mit.edu	37	chr18	67817253	67817253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagattcaataaacttgttcCaggtcaatgctgtcatcatc	7	9	4	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:67817253C>T	ENST00000255674.6	-	16	2412	c.2126G>A	c.(2125-2127)tGg>tAg	p.W709*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	709					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)				AAACTTGTTCCAGGTCAATGC	0.428																																						ENST00000255674.6																			0				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						c.(2125-2127)tGg>tAg		rotatin							103	99	101					18																	67817253		1945	4148	6093	SO:0001587	stop_gained	25914						binding	g.chr18:67817253C>T	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.2126G>A	18.37:g.67817253C>T	ENSP00000255674:p.Trp709*					RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*	p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			16	2412	-		Esophageal squamous(42;0.129)	709					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	c.2126G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852045	0.98525	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	.	.	.	5.58	5.58	0.84498	.	0.135780	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	.	.	.	X	709	.	ENSP00000255674:W709X	W	-	2	0	RTTN	65968233	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	6.944000	0.75940	2.618000	0.88619	0.563000	0.77884	TGG		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		6	47	0	0	0	1	0	6	47					T	67817253	C	T	67817253	4	4	386	1	0	0	0	0	0	1	0	0	13737	595	21	2	4690	2	RTTN	18	67817253	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6583161	67817253	10259995	61	34819											
ZNF358	140467	broad.mit.edu	37	chr19	7585112	7585112	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccactgcggcaaagccttCgggcagagctccaacttgca	10	16	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:7585112C>T	ENST00000597229.1	+	2	1154	c.984C>T	c.(982-984)ttC>ttT	p.F328F	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Silent_p.F328F|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	328					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCAAAGCCTTCGGGCAGAGCT	0.701																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(982-984)ttC>ttT		zinc finger protein 358							48	52	51					19																	7585112		2203	4298	6501	SO:0001819	synonymous_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585112C>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.984C>T	19.37:g.7585112C>T						CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.F328F	p.F328F	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	1154	+			328					Q9BTM7	Silent	SNP	ENST00000597229.1	37	c.984C>T	CCDS32890.2																																																																																				0.701	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			79	73	0	0	0	1	0	79	73					T	7585112	C	T	7585112	2	4	386	1	0	0	0	0	0	0	0	1	17864	883	31	1		1	ZNF358	19	7585112	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		7585112	51543871	62	34820											
OR2Z1	284383	broad.mit.edu	37	chr19	8842045	8842045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcatcgccacctcctacGgccacgtgttgcaggctgtt	9	17	1	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:8842045G>A	ENST00000324060.2	+	1	730	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	219						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)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCTCCTACGGCCACGTGTT	0.582																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(655-657)Ggc>Agc		olfactory receptor, family 2, subfamily Z, member 1							105	87	93					19																	8842045		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842045G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.655G>A	19.37:g.8842045G>A	ENSP00000316284:p.Gly219Ser						p.G219S	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	730	+			219					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.655G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.247291	0.01481	.	.	ENSG00000181733	ENST00000324060	T	0.00051	8.81	4.67	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.544886	0.17782	N	0.162207	T	0.00073	0.0002	N	0.16201	0.385	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.02933	-1.1092	10	0.09338	T	0.73	.	8.3042	0.32032	0.2675:0.0:0.7325:0.0	.	219	Q8NG97	OR2Z1_HUMAN	S	219	ENSP00000316284:G219S	ENSP00000316284:G219S	G	+	1	0	OR2Z1	8703045	0.000000	0.05858	0.024000	0.17045	0.007000	0.05969	0.108000	0.15396	0.181000	0.19994	-0.320000	0.08662	GGC		0.582	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			25	79	0	0	0	1	0	25	79					A	8842045	G	A	8842045	3	1	386	1	0	0	0	0	1	0	0	0	11036	1116	39	1	657	1	OR2Z1	19	8842045	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1256933	8842045	50286938	63	34821											
SMARCA4	6597	broad.mit.edu	37	chr19	11143984	11143984	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggacctgcaagcgcaggacCgagcccaccgcatcgggcag	14	15	0	0	rs267607070		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:11143984C>G	ENST00000429416.3	+	27	3846	c.3565C>G	c.(3565-3567)Cga>Gga	p.R1189G	SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				AGCGCAGGACCGAGCCCACCG	0.612			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(3565-3567)Cga>Gga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							52	53	53					19																	11143984		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143984C>G	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.3565C>G	19.37:g.11143984C>G	ENSP00000395654:p.Arg1189Gly					SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G	p.R1189G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3849	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1189			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3565C>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636206	0.67130	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48;-5.48;-5.48;-5.48	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.156736	0.43919	D	0.000508	D	0.99739	0.9897	H	0.99982	5.21	0.58432	D	0.99999	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	0.999;0.999;0.999;0.999;0.995;1.0;0.999	D	0.96487	0.9361	10	0.87932	D	0	-20.177	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1189;1189;1189;1189;1189;409;1189	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	G	1189;1189;1253;1189;1189;1189;1189;1189	ENSP00000395654:R1189G;ENSP00000350720:R1189G;ENSP00000343896:R1189G;ENSP00000445036:R1189G;ENSP00000392837:R1189G;ENSP00000397783:R1189G;ENSP00000414727:R1189G	ENSP00000343896:R1189G	R	+	1	2	SMARCA4	11004984	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.283000	0.33237	2.488000	0.83962	0.558000	0.71614	CGA		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	88	0	0	0	1	0	4	88					G	11143984	C	G	11143984	3	3	386	1	0	0	0	0	1	0	0	0	14770	644	23	4	3663	4	SMARCA4	19	11143984	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	2301939	11143984	47984999	64	34822											
MAST1	22983	broad.mit.edu	37	chr19	12977470	12977470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatacccgctccccagcccGctcagacaggtatcaccacg	7	20	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:12977470G>T	ENST00000251472.4	+	18	2072	c.2033G>T	c.(2032-2034)cGc>cTc	p.R678L		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCAGCCCGCTCAGACAGG	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2032-2034)cGc>cTc		microtubule associated serine/threonine kinase 1							51	41	45					19																	12977470		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977470G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2033G>T	19.37:g.12977470G>T	ENSP00000251472:p.Arg678Leu						p.R678L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			18	2072	+			678			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000251472.4	37	c.2033G>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980951	0.92982	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23147	1.92	4.85	3.76	0.43208	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.92219	3.285	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.67810	-0.5574	10	0.87932	D	0	-28.7469	12.1364	0.53974	0.0:0.0:0.827:0.173	.	678	Q9Y2H9	MAST1_HUMAN	L	678	ENSP00000251472:R678L	ENSP00000251472:R678L	R	+	2	0	MAST1	12838470	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.776000	0.99001	1.103000	0.41568	0.563000	0.77884	CGC		0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		14	18	1	0	1.05317e-09	1	1.12417e-09	14	18					T	12977470	G	T	12977470	3	4	386	1	0	0	0	0	1	0	0	0	9324	1087	38	4	2103	4	MAST1	19	12977470	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1833486	12977470	46151513	65	34823											
CILP2	148113	broad.mit.edu	37	chr19	19654989	19654989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttgatcctcgaggtgcCggcgtgtaccacgaggtcaa	12	12	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:19654989C>T	ENST00000291495.5	+	8	1720	c.1635C>T	c.(1633-1635)gcC>gcT	p.A545A	CILP2_ENST00000586018.1_Silent_p.A551A	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	545						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						CTCGAGGTGCCGGCGTGTACC	0.612																																						ENST00000586018.1																			0				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						c.(1651-1653)gcC>gcT		cartilage intermediate layer protein 2							59	63	62					19																	19654989		2203	4300	6503	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654989C>T	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.1635C>T	19.37:g.19654989C>T						CILP2_ENST00000291495.4_Silent_p.A545A	p.A551A			Q8IUL8	CILP2_HUMAN			8	1755	+			545					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.1653C>T	CCDS12405.1																																																																																				0.612	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		18	91	0	0	0	1	0	18	91					T	19654989	C	T	19654989	2	4	386	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CILP2	19	19654989	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6677519	19654989	39473994	66	34824											
ZNF208	7757	broad.mit.edu	37	chr19	22171640	22171640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttctatataaattctgCtgtgcagtgtccaggcattg	8	8	2	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:22171640C>T	ENST00000397126.4	-	2	223	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000601773.1_Silent_p.Q25Q	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	25	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)			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)				ATAAATTCTGCTGTGCAGTGT	0.398																																						ENST00000397126.4																			0				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						c.(73-75)caG>caA		zinc finger protein 208							137	147	143					19																	22171640		2203	4299	6502	SO:0001819	synonymous_variant	7757							g.chr19:22171640C>T	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.75G>A	19.37:g.22171640C>T						ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000601773.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR	p.Q25Q	NM_007153.3	NP_009084.2					2	223	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.75G>A	CCDS54240.1																																																																																				0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	243	0	0	0	1	0	8	243					T	22171640	C	T	22171640	2	4	386	1	0	0	0	0	0	0	0	1	17763	796	28	2		2	ZNF208	19	22171640	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	2516651	22171640	36957343	67	34825											
LIPE	3991	broad.mit.edu	37	chr19	42931121	42931121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtgcaggggtctcctGctgggtgaggggtctttggt	18	6	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:42931121G>C	ENST00000244289.4	-	1	457	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	61					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)				GGGGTCTCCTGCTGGGTGAGG	0.527																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(181-183)Cag>Gag		lipase, hormone-sensitive							149	150	150					19																	42931121		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42931121G>C	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.181C>G	19.37:g.42931121G>C	ENSP00000244289:p.Gln61Glu					LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.Q61E	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	457	-		Prostate(69;0.00682)	61					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.181C>G	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129057	0.37533	.	.	ENSG00000079435	ENST00000244289	T	0.21031	2.03	4.5	3.38	0.38709	.	0.379952	0.19399	N	0.115238	T	0.24160	0.0585	M	0.67953	2.075	0.25207	N	0.990002	B	0.27351	0.176	B	0.26517	0.07	T	0.17623	-1.0363	10	0.62326	D	0.03	-9.8524	12.4647	0.55751	0.0:0.1707:0.8293:0.0	.	61	Q05469	LIPS_HUMAN	E	61	ENSP00000244289:Q61E	ENSP00000244289:Q61E	Q	-	1	0	LIPE	47622961	0.941000	0.31946	1.000000	0.80357	0.638000	0.38207	2.226000	0.42963	2.496000	0.84212	0.563000	0.77884	CAG		0.527	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		5	188	0	0	0	1	0	5	188					C	42931121	G	C	42931121	3	2	386	1	0	0	0	0	1	0	0	0	8821	1328	46	4	3089	4	LIPE	19	42931121	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	20759481	42931121	16197862	68	34826											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197800	48197800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagcccctacgccatcCgacttccagctccagttccc	6	20	0	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:48197800C>T	ENST00000396720.3	+	8	2906	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	904										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTACGCCATCCGACTTCCAGC	0.701																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2710-2712)tcC>tcT		glioma tumor suppressor candidate region gene 1							23	26	25					19																	48197800		1970	4132	6102	SO:0001819	synonymous_variant	29998						protein binding	g.chr19:48197800C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2712C>T	19.37:g.48197800C>T						CTD-2571L23.8_ENST00000599924.1_lincRNA	p.S904S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2906	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	904					A8MW01	Silent	SNP	ENST00000396720.3	37	c.2712C>T	CCDS46134.1																																																																																				0.701	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		31	43	0	0	0	1	0	31	43					T	48197800	C	T	48197800	2	4	386	1	0	0	0	0	0	0	0	1	6474	639	23	1		1	GLTSCR1	19	48197800	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	5266679	48197800	10931183	69	34827											
PPFIA3	8541	broad.mit.edu	37	chr19	49636260	49636260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgctacctccgcaggcGctggcgcagcgggaagatat	13	13	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:49636260G>A	ENST00000334186.4	+	8	1231	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PPFIA3_ENST00000602351.1_Silent_p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	294					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)		CTCCGCAGGCGCTGGCGCAGC	0.647																																						ENST00000334186.4																			0				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						c.(880-882)gcG>gcA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							23	21	22					19																	49636260		2202	4299	6501	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49636260G>A	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.882G>A	19.37:g.49636260G>A						PPFIA3_ENST00000602351.1_Silent_p.A294A	p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	8	1231	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	294					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.882G>A	CCDS12758.1																																																																																				0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	22	0	0	0	1	0	4	22					A	49636260	G	A	49636260	2	1	386	1	0	0	0	0	0	0	0	1	12311	1074	38	1		1	PPFIA3	19	49636260	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1438460	49636260	9492723	70	34828											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgatgcttacctgaagaCgacaaggcaggaacagaaag	11	10	0	3	rs140702198		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I|U3_ENST00000408198.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18765	0.0		0.0	False		,,,				2504	0.0					ENST00000447370.2																			2	Substitution - Missense(2)	p.V569I(1)|p.V581I(1)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1741-1743)Gtc>Atc		sialic acid binding Ig-like lectin 11							78	78	78					19																	50455562		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50455562C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"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"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1741G>A	19.37:g.50455562C>T	ENSP00000412361:p.Val581Ile					CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I	p.V581I	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	9	1831	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	581						Missense_Mutation	SNP	ENST00000447370.2	37	c.1741G>A	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	0.133	-1.111219	0.01813	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.53857	0.6	3.14	-6.27	0.02026	.	2.248880	0.01854	N	0.036149	T	0.15739	0.0379	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30504	-0.9976	10	0.02654	T	1	.	1.3741	0.02216	0.1835:0.2933:0.1047:0.4185	.	485;581	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	I	581;485	ENSP00000412361:V581I	ENSP00000412361:V581I	V	-	1	0	SIGLEC11	55147374	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.895000	0.01606	-1.594000	0.01615	-3.096000	0.00064	GTC		0.622	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		14	118	0	0	0	1	0	14	118					T	50455562	C	T	50455562	3	4	386	1	0	0	0	0	1	0	0	0	14307	536	19	1	367	1	SIGLEC11	19	50455562	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	819302	50455562	8673421	71	34829											
SIGLEC6	946	broad.mit.edu	37	chr19	52033760	52033760	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtggaaagaggtggccGcctcaacatccctgaggagg	17	9	1	2	rs148934624	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:52033760G>A	ENST00000425629.3	-	4	861				SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R240W|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGTGGCCGCCTCAACATC	0.582													G|||	18	0.00359425	0.0015	0.0	5008	,	,		17393	0.0		0.0149	False		,,,				2504	0.001					ENST00000359982.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(718-720)Cgg>Tgg		sialic acid binding Ig-like lectin 6		G	,TRP/ARG,,,,	10,3992		0,10,1991	47	49	48		,718,,,,	-1.5	0	19	dbSNP_134	48	96,8222		1,94,4064	yes	intron,missense,intron,intron,intron,intron	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	,101,,,,	1,104,6055	AA,AG,GG		1.1541,0.2499,0.8604	,,,,,	,240/390,,,,	52033760	106,12214	2001	4159	6160	SO:0001627	intron_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033760G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.707-22C>T	19.37:g.52033760G>A						SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000425629.3_Intron	p.R240W	NM_001177548.1	NP_001171019.1	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	863	-		all_neural(266;0.0199)	236			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.718C>T	CCDS12834.3	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	G	8.596	0.885743	0.17540	0.002499	0.011541	ENSG00000105492	ENST00000359982	T	0.34859	1.34	2.63	-1.46	0.08800	.	.	.	.	.	T	0.11153	0.0272	N	0.14661	0.345	0.09310	N	1	P	0.39044	0.656	B	0.34722	0.188	T	0.14420	-1.0473	8	.	.	.	.	4.5568	0.12140	0.0:0.2167:0.3436:0.4397	.	240	F8WA78	.	W	240	ENSP00000353071:R240W	.	R	-	1	2	SIGLEC6	56725572	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.029000	0.13666	-0.202000	0.10268	0.514000	0.50259	CGG		0.582	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		4	47	0	0	0	1	0	4	47					A	52033760	G	A	52033760	1	1	386	0	1	0	0	0	0	0	0	0	14312	1086	38	1		1	SIGLEC6	19	52033760	Intron	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1578198	52033760	7095223	72	34830											
DLGAP4	22839	broad.mit.edu	37	chr20	35060649	35060649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagggtggcatggaggacGgcaagggccggagggccaaa	20	7	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:35060649G>A	ENST00000373907.2	+	2	728	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	DLGAP4_ENST00000373913.3_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	177					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATGGAGGACGGCAAGGGCCG	0.642																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(529-531)Ggc>Agc		discs, large (Drosophila) homolog-associated protein 4							39	45	43					20																	35060649		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060649G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.529G>A	20.37:g.35060649G>A	ENSP00000363014:p.Gly177Ser					DLGAP4_ENST00000373907.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S	p.G177S			Q9Y2H0	DLGP4_HUMAN			3	1009	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	177					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.529G>A		.	.	.	.	.	.	.	.	.	.	G	2.487	-0.318259	0.05386	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.53	1.42	0.22433	.	0.608380	0.18203	N	0.148459	T	0.05914	0.0154	N	0.04880	-0.145	0.26510	N	0.974613	B	0.14012	0.009	B	0.09377	0.004	T	0.33111	-0.9881	10	0.22109	T	0.4	.	2.0965	0.03669	0.2837:0.1207:0.4718:0.1238	.	177	Q9Y2H0-1	.	S	177	ENSP00000363023:G177S;ENSP00000384954:G177S;ENSP00000363014:G177S;ENSP00000341633:G177S	ENSP00000341633:G177S	G	+	1	0	DLGAP4	34494063	1.000000	0.71417	0.883000	0.34634	0.803000	0.45373	1.052000	0.30429	0.037000	0.15575	0.561000	0.74099	GGC		0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		6	88	0	0	0	1	0	6	88					A	35060649	G	A	35060649	3	1	386	1	0	0	0	0	1	0	0	0	4562	1116	39	1	531	1	DLGAP4	20	35060649	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		35060649	27964871	73	34831											
KCNG1	3755	broad.mit.edu	37	chr20	49626567	49626567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgtagtcatcgcacacGttgaggatgtcgtcgaagtt	12	9	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:49626567G>A	ENST00000371571.4	-	2	594	c.309C>T	c.(307-309)aaC>aaT	p.N103N	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	103					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						CATCGCACACGTTGAGGATGT	0.637																																						ENST00000371571.4																			0				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						c.(307-309)aaC>aaT		potassium voltage-gated channel, subfamily G, member 1							79	62	68					20																	49626567		2203	4300	6503	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626567G>A	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.309C>T	20.37:g.49626567G>A						KCNG1_ENST00000396017.3_Silent_p.N103N	p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			2	594	-			103					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.309C>T	CCDS13436.1																																																																																				0.637	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		10	63	0	0	0	1	0	10	63					A	49626567	G	A	49626567	2	1	386	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626567	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	14565918	49626567	13398953	74	34832											
UBASH3A	53347	broad.mit.edu	37	chr21	43838610	43838610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccacgcagcaggacgaagCcagcgagggctgggtgattg	16	12	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr21:43838610C>A	ENST00000319294.6	+	7	969	c.938C>A	c.(937-939)gCc>gAc	p.A313D	RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D|UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	313	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAGGACGAAGCCAGCGAGGGC	0.597																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(937-939)gCc>gAc		ubiquitin associated and SH3 domain containing A							74	74	74					21																	43838610		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43838610C>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.938C>A	21.37:g.43838610C>A	ENSP00000317327:p.Ala313Asp					UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D|UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D	p.A313D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			7	969	+			313			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.938C>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404842	0.83230	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.48201	0.82;0.82;0.82	5.13	5.13	0.70059	Src homology-3 domain (4);	0.196756	0.35838	N	0.002954	T	0.52741	0.1753	N	0.20574	0.59	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;D;D	0.71414	0.949;0.914;0.973	T	0.57682	-0.7769	10	0.66056	D	0.02	-32.8692	13.9518	0.64123	0.0:0.9247:0.0:0.0753	.	275;275;313	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	D	275;313;275	ENSP00000291535:A275D;ENSP00000317327:A313D;ENSP00000381408:A275D	ENSP00000291535:A275D	A	+	2	0	UBASH3A	42711679	0.854000	0.29725	1.000000	0.80357	0.996000	0.88848	2.686000	0.46968	2.389000	0.81357	0.591000	0.81541	GCC		0.597	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		9	57	1	0	1.12685e-05	1	1.1636e-05	9	57					A	43838610	C	A	43838610	3	1	386	1	0	0	0	0	1	0	0	0	16836	739	26	4	964	4	UBASH3A	21	43838610	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		43838610	4291285	75	34833											
SLC5A1	6523	broad.mit.edu	37	chr22	32479071	32479071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcttagggggcctggcGgcggtgatttacacggacac	16	11	0	1	rs184213779		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GGGGCCTGGCGGCGGTGATTT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		21964	0.001		0.0	False		,,,				2504	0.0					ENST00000266088.4																			1	Substitution - coding silent(1)	p.A198A(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(592-594)gcG>gcA		solute carrier family 5 (sodium/glucose cotransporter), member 1							123	95	105					22																	32479071		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32479071G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.594G>A	22.37:g.32479071G>A						SLC5A1_ENST00000543737.1_Silent_p.A71A	p.A198A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			7	844	+			198					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.594G>A	CCDS13902.1																																																																																				0.572	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		15	6	0	0	0	1	0	15	6					A	32479071	G	A	32479071	2	1	386	1	0	0	0	0	0	0	0	1	14661	1103	39	1		1	SLC5A1	22	32479071	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		32479071	18825495	76	34834											
NCF4	4689	broad.mit.edu	37	chr22	37266498	37266498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgctgatggatgaggaCgtccggatcttcttttacca	13	8	2	2	rs144105468		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:37266498C>T	ENST00000248899.6	+	5	568	c.384C>T	c.(382-384)gaC>gaT	p.D128D	CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Silent_p.D128D|CTA-833B7.2_ENST00000330602.2_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	128	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)	TGGATGAGGACGTCCGGATCT	0.622																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(382-384)gaC>gaT		neutrophil cytosolic factor 4, 40kDa			,	6,4400	11.4+/-27.6	0,6,2197	100	87	91		384,384	0.3	1	22	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NCF4	NM_000631.4,NM_013416.3	,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	128/340,128/349	37266498	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266498C>T	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.384C>T	22.37:g.37266498C>T						NCF4_ENST00000248899.6_Silent_p.D128D	p.D128D	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			5	568	+			128			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.384C>T	CCDS13934.1																																																																																				0.622	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		50	19	0	0	0	1	0	50	19					T	37266498	C	T	37266498	2	4	386	1	0	0	0	0	0	0	0	1	10218	535	19	1		1	NCF4	22	37266498	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	4787427	37266498	14038068	77	34835											
TTLL8	164714	broad.mit.edu	37	chr22	50480124	50480124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccacggcatctgctgaCgtgtcgatgtcctcatgctc	9	15	2	1	rs372593700	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:50480124C>T	ENST00000266182.6	-	7	755	c.756G>A	c.(754-756)acG>acA	p.T252T	TTLL8_ENST00000440475.1_Silent_p.T252T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	288	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)		CATCTGCTGACGTGTCGATGT	0.632													c|||	2	0.000399361	0.0015	0.0	5008	,	,		20046	0.0		0.0	False		,,,				2504	0.0					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(754-756)acG>acA		tubulin tyrosine ligase-like family, member 8		C		1,4355		0,1,2177	73	80	78		846	-2.9	0	22		78	1,8537		0,1,4268	no	coding-synonymous	TTLL8	XM_003403494.1		0,2,6445	TT,TC,CC		0.0117,0.023,0.0155		282/841	50480124	2,12892	2178	4269	6447	SO:0001819	synonymous_variant	164714							g.chr22:50480124C>T			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.756G>A	22.37:g.50480124C>T						TTLL8_ENST00000440475.1_Silent_p.T252T	p.T252T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	755	-		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)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.756G>A																																																																																					0.632	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		9	6	0	0	0	1	0	9	6					T	50480124	C	T	50480124	2	4	386	1	0	0	0	0	0	0	0	1	16730	523	19	1		1	TTLL8	22	50480124	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	13213626	50480124	824442	78	34836											
CPXCR1	53336	broad.mit.edu	37	chrX	88008525	88008525	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catagagtctccatctgctgAtcccaatatgatctatcagg	7	11	4	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:88008525A>C	ENST00000276127.4	+	3	369	c.110A>C	c.(109-111)gAt>gCt	p.D37A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	37							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCATCTGCTGATCCCAATATG	0.443																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(109-111)gAt>gCt		CPX chromosome region, candidate 1							44	40	41					X																	88008525		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008525A>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.110A>C	X.37:g.88008525A>C	ENSP00000276127:p.Asp37Ala					CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	p.D37A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	369	+			37					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.110A>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090446	0.36855	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.28454	1.61;1.61	3.43	2.25	0.28309	.	0.444320	0.16645	N	0.205471	T	0.28896	0.0717	L	0.29908	0.895	0.09310	N	1	D	0.63046	0.992	P	0.55345	0.774	T	0.06180	-1.0841	9	.	.	.	.	4.5772	0.12240	0.8476:0.0:0.1523:0.0	.	37	Q8N123	CPXCR_HUMAN	A	37	ENSP00000276127:D37A;ENSP00000362203:D37A	.	D	+	2	0	CPXCR1	87895181	0.013000	0.17824	0.001000	0.08648	0.009000	0.06853	2.016000	0.40971	0.535000	0.28714	0.481000	0.45027	GAT		0.443	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		9	5	0	0	0	1	0	9	5					C	88008525	A	C	88008525	3	2	386	1	0	0	0	0	1	0	0	0	3836	333	12	5	112	5	CPXCR1	23	88008525	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		88008525	67262035	79	34837											
USP26	83844	broad.mit.edu	37	chrX	132162098	132162098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaatattatcacttagccGaaaagtgctatattttccac	5	8	1	1	rs146792106	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:132162098G>A	ENST00000511190.1	-	6	620	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	USP26_ENST00000406273.1_Missense_Mutation_p.R51W|USP26_ENST00000370832.1_Missense_Mutation_p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	51					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)					TCACTTAGCCGAAAAGTGCTA	0.318													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14961	0.0		0.0	False		,,,				2504	0.0				NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				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						c.(151-153)Cgg>Tgg		ubiquitin specific peptidase 26		G	TRP/ARG	7,3828		0,6,1,1626,570	72	70	71		151	2.5	0	X	dbSNP_134	71	0,6727		0,0,0,2428,1871	no	missense	USP26	NM_031907.1	101	0,6,1,4054,2441	AA,AG,A,GG,G		0.0,0.1825,0.0663	possibly-damaging	51/914	132162098	7,10555	2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132162098G>A	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.151C>T	X.37:g.132162098G>A	ENSP00000423390:p.Arg51Trp					USP26_ENST00000370832.1_Missense_Mutation_p.R51W|USP26_ENST00000406273.1_Missense_Mutation_p.R51W	p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	620	-	Acute lymphoblastic leukemia(192;0.000127)		51					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.151C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599644	0.28534	0.001825	0.0	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55930	0.49;0.49;0.49	4.28	2.46	0.29980	.	1.309710	0.05646	N	0.584244	T	0.41971	0.1182	N	0.22421	0.69	0.09310	N	1	P	0.41102	0.738	B	0.38562	0.276	T	0.40040	-0.9584	10	0.87932	D	0	0.628	9.7073	0.40222	0.0:0.4036:0.5964:0.0	.	51	Q9BXU7	UBP26_HUMAN	W	51	ENSP00000359869:R51W;ENSP00000423390:R51W;ENSP00000384360:R51W	ENSP00000359869:R51W	R	-	1	2	USP26	131989764	0.061000	0.20836	0.007000	0.13788	0.006000	0.05464	0.930000	0.28858	0.529000	0.28599	0.600000	0.82982	CGG		0.318	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	28	0	0	0	1	0	7	28					A	132162098	G	A	132162098	3	1	386	1	0	0	0	0	1	0	0	0	17054	1057	37	1	2593	1	USP26	23	132162098	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	44153573	132162098	23108462	80	34838											
C1orf168	199920	broad.mit.edu	37	chr1	57219575	57219575	+	Frame_Shift_Del	DEL	T	T	-													ggtttcaattcacatggttgTttttccttcatttttttatc							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:57219575delT	ENST00000343433.6	-	8	1244	c.1164delA	c.(1162-1164)aaafs	p.K388fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	388										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						CACATGGTTGTTTTTCCTTCA	0.333																																						ENST00000343433.6																			0				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						c.(1162-1164)aafs		chromosome 1 open reading frame 168							218	189	199					1																	57219575		2201	4300	6501	SO:0001589	frameshift_variant	199920							g.chr1:57219575delT	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.1164delA	1.37:g.57219575delT	ENSP00000345972:p.Lys388fs					C1orf168_ENST00000484327.1_Intron	p.K388fs	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			8	1244	-			388					Q63HM3|Q6ZUY6	Frame_Shift_Del	DEL	ENST00000343433.6	37	c.1164delA	CCDS30729.1																																																																																				0.333	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		11	44						11	44	---	---	---	---	-	57219575	T	-	57219575	7	5	387	1	0	1	0	1	0	0	0	0	2012	1722	60	0	1074	0	C1orf168	1	57219575	Frame_Shift_Del	DEL	T	TCGA-QH-A6CW-01A-11D-A32B-08		57219575	192031046	1	34839											
LPAR3	23566	broad.mit.edu	37	chr1	85331619	85331619	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagtagaaggggaaaTgaaattttctgtttttgatc	11	3	1	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:85331619T>G	ENST00000440886.1	-	1	223	c.185A>C	c.(184-186)cAt>cCt	p.H62P	LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	62					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGGGGAAATGAAATTTTCT	0.393																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(184-186)cAt>cCt		lysophosphatidic acid receptor 3							89	95	93					1																	85331619		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331619T>G	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.185A>C	1.37:g.85331619T>G	ENSP00000395389:p.His62Pro					LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P|LPAR3_ENST00000491034.1_5'UTR	p.H62P			Q9UBY5	LPAR3_HUMAN			1	223	-			62					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.185A>C	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128067	0.77549	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.41400	1.0;1.0	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.95780	3.72	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	T	0.81163	-0.1058	10	0.87932	D	0	.	15.9608	0.79928	0.0:0.0:0.0:1.0	.	62	Q9UBY5	LPAR3_HUMAN	P	62	ENSP00000395389:H62P;ENSP00000359643:H62P	ENSP00000359643:H62P	H	-	2	0	LPAR3	85104207	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.013000	0.88655	2.174000	0.68829	0.383000	0.25322	CAT		0.393	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		39	55	0	0	0	1	0	39	55					G	85331619	T	G	85331619	3	3	387	1	0	0	0	0	1	0	0	0	8906	1464	51	5	884	5	LPAR3	1	85331619	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	28112044	85331619	163919002	2	34840											
GNAI3	2773	broad.mit.edu	37	chr1	110128908	110128908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttgagggagtgacagcaAttatcttctgtgtggccctc	12	8	2	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:110128908A>G	ENST00000369851.4	+	6	771	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	221					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)		AGTGACAGCAATTATCTTCTG	0.458																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(661-663)Att>Gtt		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							288	234	252					1																	110128908		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110128908A>G	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.661A>G	1.37:g.110128908A>G	ENSP00000358867:p.Ile221Val						p.I221V	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		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)	6	771	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	221					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.661A>G	CCDS802.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691558	0.68271	.	.	ENSG00000065135	ENST00000369851	D	0.90504	-2.68	5.02	5.02	0.67125	.	0.094131	0.64402	D	0.000001	D	0.87079	0.6088	L	0.53729	1.69	0.80722	D	1	B	0.25048	0.117	B	0.36666	0.23	D	0.87601	0.2497	10	0.87932	D	0	.	14.7149	0.69259	1.0:0.0:0.0:0.0	.	221	P08754	GNAI3_HUMAN	V	221	ENSP00000358867:I221V	ENSP00000358867:I221V	I	+	1	0	GNAI3	109930431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.014000	0.59158	0.477000	0.44152	ATT		0.458	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		12	117	0	0	0	1	0	12	117					G	110128908	A	G	110128908	3	3	387	1	0	0	0	0	1	0	0	0	6506	101	4	3	683	3	GNAI3	1	110128908	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	24797289	110128908	139121713	3	34841											
DENND2C	163259	broad.mit.edu	37	chr1	115137092	115137092	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctcacttgtctcatAccttgtgaaaaattctgctc	6	12	3	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:115137092A>T	ENST00000393274.1	-	18	3057		c.e18+1		DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site|DENND2C_ENST00000481894.1_Splice_Site	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						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)		CTTGTCTCATACCTTGTGAAA	0.383																																						ENST00000393274.1																			0				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						c.e18+1		DENN/MADD domain containing 2C							163	155	158					1																	115137092		2203	4300	6503	SO:0001630	splice_region_variant	163259							g.chr1:115137092A>T		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.2431+1T>A	1.37:g.115137092A>T						DENND2C_ENST00000481894.1_Splice_Site|DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site		NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		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)	18	3057	-	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)						B1AL26|Q5TCX6|Q6P3R3	Splice_Site	SNP	ENST00000393274.1	37		CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924586	0.73213	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8448	0.70251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND2C	114938615	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.979000	0.70508	2.248000	0.74166	0.456000	0.33151	.		0.383	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	Intron	5	57	0	0	0	1	0	5	57					T	115137092	A	T	115137092	5	4	387	1	0	0	0	0	0	0	1	0	4430	405	14	5	369	5	DENND2C	1	115137092	Splice_Site	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	5008184	115137092	134113529	4	34842											
IGSF3	3321	broad.mit.edu	37	chr1	117131325	117131325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggccttacctggctgttTcacagtgacttctgtgcgcc	11	13	2	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:117131325T>C	ENST00000369486.3	-	8	3196	c.2431A>G	c.(2431-2433)Aaa>Gaa	p.K811E	IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E|IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	811					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTGGCTGTTTCACAGTGACT	0.632																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2431-2433)Aaa>Gaa		immunoglobulin superfamily, member 3							13	15	14					1																	117131325		2179	4236	6415	SO:0001583	missense	3321					integral to membrane		g.chr1:117131325T>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2431A>G	1.37:g.117131325T>C	ENSP00000358498:p.Lys811Glu					IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E|IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E	p.K811E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	3196	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	811					A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2431A>G	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101542	0.37048	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03065	4.06;4.07;4.07	3.87	2.66	0.31614	Immunoglobulin subtype (1);	0.446475	0.23981	N	0.042670	T	0.01156	0.0038	N	0.20986	0.625	0.37605	D	0.920709	B;B;B	0.19200	0.016;0.034;0.019	B;B;B	0.18561	0.013;0.022;0.022	T	0.40021	-0.9585	10	0.59425	D	0.04	-35.1545	7.7838	0.29080	0.1855:0.0:0.0:0.8145	.	831;811;831	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	E	811;831;831	ENSP00000358498:K811E;ENSP00000358495:K831E;ENSP00000321184:K831E	ENSP00000321184:K831E	K	-	1	0	IGSF3	116932848	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.515000	0.53429	1.610000	0.50200	0.379000	0.24179	AAA		0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		14	15	0	0	0	1	0	14	15					C	117131325	T	C	117131325	3	2	387	1	0	0	0	0	1	0	0	0	7601	1792	62	3	1169	3	IGSF3	1	117131325	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	1994233	117131325	132119296	5	34843											
SGOL2	151246	broad.mit.edu	37	chr2	201437735	201437735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattggagttgaaaaagtAtgttactgataggaaatctg	10	2	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:201437735A>G	ENST00000357799.4	+	7	2764	c.2666A>G	c.(2665-2667)tAt>tGt	p.Y889C		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	889					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTGAAAAAGTATGTTACTGAT	0.303																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2665-2667)tAt>tGt		shugoshin-like 2 (S. pombe)							79	82	81					2																	201437735		1799	4035	5834	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437735A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2666A>G	2.37:g.201437735A>G	ENSP00000350447:p.Tyr889Cys						p.Y889C	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2764	+			889					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2666A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	0.345	-0.947935	0.02304	.	.	ENSG00000163535	ENST00000357799	T	0.12361	2.69	4.68	-0.48	0.12085	.	1.937450	0.02661	N	0.107516	T	0.05090	0.0136	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.28299	-1.0048	10	0.25751	T	0.34	2.1014	3.2733	0.06889	0.5416:0.0:0.2877:0.1706	.	889;889;889	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	C	889	ENSP00000350447:Y889C	ENSP00000350447:Y889C	Y	+	2	0	SGOL2	201145980	0.000000	0.05858	0.004000	0.12327	0.060000	0.15804	-0.424000	0.07025	-0.144000	0.11314	0.477000	0.44152	TAT		0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		45	41	0	0	0	1	0	45	41					G	201437735	A	G	201437735	3	3	387	1	0	0	0	0	1	0	0	0	14217	449	16	3	2688	3	SGOL2	2	201437735	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		201437735	41761638	6	34844											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	24	0	0	0	1	0	22	24					T	209113112	C	T	209113112	3	4	387	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	7675377	209113112	34086261	7	34845											
GNAI2	2771	broad.mit.edu	37	chr3	50294410	50294412	+	In_Frame_Del	DEL	CAA	CAA	-													aagctattcgatagcatctgCaacaacaagtggttcacaga							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:50294410_50294412delCAA	ENST00000313601.6	+	7	1149_1151	c.765_767delCAA	c.(763-768)tgcaac>tgc	p.N257del	GNAI2_ENST00000451956.1_In_Frame_Del_p.N220del|GNAI2_ENST00000440628.1_In_Frame_Del_p.N205del|GNAI2_ENST00000536647.1_In_Frame_Del_p.N176del|GNAI2_ENST00000266027.5_In_Frame_Del_p.N241del|GNAI2_ENST00000422163.1_In_Frame_Del_p.N241del|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	257					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ATAGCATCTGCAACAACAAGTGG	0.532											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(763-768)tgc>tg		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2																																				SO:0001651	inframe_deletion	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50294410_50294412delCAA	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.765_767delCAA	3.37:g.50294416_50294418delCAA	ENSP00000312999:p.Asn257del		OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAI2_ENST00000440628.1_In_Frame_Del_p.CN203del|GNAI2_ENST00000451956.1_In_Frame_Del_p.CN218del|GNAI2_ENST00000422163.1_In_Frame_Del_p.CN239del|GNAI2_ENST00000536647.1_In_Frame_Del_p.CN174del|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_In_Frame_Del_p.CN239del	p.CN255del	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	7	1149_1151	+			255					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	In_Frame_Del	DEL	ENST00000313601.6	37	c.765_767delCAA	CCDS2813.1																																																																																				0.532	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		12	79						12	79	---	---	---	---	-	50294412	CAA	-	50294410	7	5	387	1	0	1	0	1	0	0	0	0	6505	718	25	0	802	0	GNAI2	3	50294410	In_Frame_Del	DEL	CAA	TCGA-QH-A6CW-01A-11D-A32B-08		50294410	147728020	8	34846											
CRYBG3	131544	broad.mit.edu	37	chr3	97596432	97596432	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cccttctccagtcagtgtcaGaacgtttaaagatgaatttt	7	9	3	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:97596432G>C	ENST00000182096.4	+	1	614	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2132							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTCAGTGTCAGAACGTTTAAA	0.458																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(550-552)Gaa>Caa		beta-gamma crystallin domain containing 3							52	54	53					3																	97596432		2030	4212	6242	SO:0001583	missense	131544							g.chr3:97596432G>C			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.550G>C	3.37:g.97596432G>C	ENSP00000182096:p.Glu184Gln						p.E184Q	NM_153605.3	NP_705833.3					1	614	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.550G>C		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709073	0.68615	.	.	ENSG00000080200	ENST00000182096	T	0.81163	-1.46	5.8	5.8	0.92144	.	1.179390	0.06178	N	0.678913	D	0.87704	0.6244	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79720	-0.1685	10	0.66056	D	0.02	.	18.2372	0.89952	0.0:0.0:1.0:0.0	.	184	Q68DQ2	CRBG3_HUMAN	Q	184	ENSP00000182096:E184Q	ENSP00000182096:E184Q	E	+	1	0	CRYBG3	99079122	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	6.069000	0.71209	2.752000	0.94435	0.650000	0.86243	GAA		0.458	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		3	48	0	0	0	1	0	3	48					C	97596432	G	C	97596432	3	2	387	1	0	0	0	0	1	0	0	0	3913	943	33	4	552	4	CRYBG3	3	97596432	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	47302022	97596432	100425998	9	34847											
BBX	56987	broad.mit.edu	37	chr3	107491781	107491781	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagaagatcacaaatgtagtCattttcctgatttttcttat	5	6	3	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:107491781C>G	ENST00000325805.8	+	11	1500	c.1213C>G	c.(1213-1215)Cat>Gat	p.H405D	BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D|BBX_ENST00000415149.2_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	405					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAATGTAGTCATTTTCCTGA	0.328																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1213-1215)Cat>Gat		bobby sox homolog (Drosophila)							73	80	78					3																	107491781		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491781C>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1213C>G	3.37:g.107491781C>G	ENSP00000319974:p.His405Asp					BBX_ENST00000325805.8_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D	p.H405D	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1540	+			405					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1213C>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358798	0.24598	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98585	-4.39;-4.4;-4.39;-5.01;-4.39	6.16	6.16	0.99307	.	0.456083	0.25037	N	0.033634	D	0.95204	0.8445	N	0.17082	0.46	0.30621	N	0.758522	P;P;P	0.49447	0.924;0.924;0.857	P;P;B	0.44860	0.462;0.462;0.359	D	0.93137	0.6538	10	0.39692	T	0.17	-3.3108	12.177	0.54190	0.1255:0.7387:0.1358:0.0	.	405;405;405	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	D	405;256;405;405;405;405	ENSP00000408358:H405D;ENSP00000385317:H405D;ENSP00000319974:H405D;ENSP00000385518:H405D;ENSP00000385530:H405D	ENSP00000319742:H256D	H	+	1	0	BBX	108974471	0.202000	0.23423	1.000000	0.80357	0.881000	0.50899	2.126000	0.42026	2.937000	0.99478	0.650000	0.86243	CAT		0.328	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		7	65	0	0	0	1	0	7	65					G	107491781	C	G	107491781	3	3	387	1	0	0	0	0	1	0	0	0	1343	826	29	4	1243	4	BBX	3	107491781	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	9895349	107491781	90530649	10	34848											
HGD	3081	broad.mit.edu	37	chr3	120352005	120352005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catacttaccatggtgccatCggcaatcctctcaggtgcca	8	14	1	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:120352005C>T	ENST00000283871.5	-	13	1636	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	393					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)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGGTGCCATCGGCAATCCTC	0.547																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(1177-1179)Gat>Aat		homogentisate 1,2-dioxygenase							83	68	73					3																	120352005		2203	4297	6500	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120352005C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1177G>A	3.37:g.120352005C>T	ENSP00000283871:p.Asp393Asn						p.D393N	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	13	1636	-			393					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1177G>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583947	0.65992	.	.	ENSG00000113924	ENST00000283871	D	0.98996	-5.31	5.2	5.2	0.72013	Cupin, RmlC-type (1);	0.117189	0.56097	D	0.000031	D	0.97424	0.9157	L	0.41356	1.27	0.51767	D	0.999932	B	0.16396	0.017	B	0.13407	0.009	D	0.94978	0.8123	10	0.72032	D	0.01	-4.0225	17.9055	0.88917	0.0:1.0:0.0:0.0	.	393	Q93099	HGD_HUMAN	N	393	ENSP00000283871:D393N	ENSP00000283871:D393N	D	-	1	0	HGD	121834695	1.000000	0.71417	0.957000	0.39632	0.678000	0.39670	7.289000	0.78701	2.703000	0.92315	0.460000	0.39030	GAT		0.547	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			8	27	0	0	0	1	0	8	27					T	120352005	C	T	120352005	3	4	387	1	0	0	0	0	1	0	0	0	7084	884	31	1	168	1	HGD	3	120352005	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	12860224	120352005	77670425	11	34849											
COL6A5	256076	broad.mit.edu	37	chr3	130188154	130188154	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtctctgagagccaagtgtCaaggctactccatatttgtg	10	9	2	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:130188154C>T	ENST00000432398.2	+	38	7800	c.7306C>T	c.(7306-7308)Caa>Taa	p.Q2436*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.Q2436*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2436	Nonhelical region.|VWFA 10. {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						AGCCAAGTGTCAAGGCTACTC	0.408																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7306-7308)Caa>Taa		collagen, type VI, alpha 5							89	73	78					3																	130188154		1885	4116	6001	SO:0001587	stop_gained	256076				axon guidance|cell adhesion	collagen		g.chr3:130188154C>T	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.7306C>T	3.37:g.130188154C>T	ENSP00000390895:p.Gln2436*					COL6A5_ENST00000432398.2_Nonsense_Mutation_p.Q2436*	p.Q2436*			A8TX70	CO6A5_HUMAN			38	7800	+			2436			Nonhelical region.|VWFA 10.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	ENST00000432398.2	37	c.7306C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.658899|16.658899	0.99869|0.99869	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.141787|.	0.32258|.	N|.	0.006350|.	.|T	.|0.63141	.|0.2486	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69691	.|-0.5077	.|3	0.09843|.	T|.	0.71|.	.|.	13.1442|13.1442	0.59452|0.59452	0.0:0.8389:0.1611:0.0|0.0:0.8389:0.1611:0.0	.|.	.|.	.|.	.|.	X|L	2436;2436;379;271|687	.|.	ENSP00000265379:Q2436X|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131670844|131670844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	2.936000|2.936000	0.48971|0.48971	2.388000|2.388000	0.81334|0.81334	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		4	29	0	0	0	1	0	4	29					T	130188154	C	T	130188154	4	4	387	1	0	0	0	0	0	1	0	0	3702	827	29	2	7452	2	COL6A5	3	130188154	Nonsense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	9836149	130188154	67834276	12	34850											
MECOM	2122	broad.mit.edu	37	chr3	168812874	168812874	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattacgtaccggacatgttCccattctcatgtttctttag	6	10	2	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:168812874C>T	ENST00000464456.1	-	11	3618	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000392736.3_Silent_p.G815G|MECOM_ENST00000494292.1_Silent_p.G994G	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						CGGACATGTTCCCATTCTCAT	0.318																																						ENST00000464456.1																			0				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						c.(2416-2418)ggG>ggA		MDS1 and EVI1 complex locus							183	161	169					3																	168812874		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168812874C>T	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.2418G>A	3.37:g.168812874C>T						MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000392736.3_Silent_p.G815G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000494292.1_Silent_p.G994G|MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G	p.G806G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			11	3618	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.2418G>A	CCDS54669.1																																																																																				0.318	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		5	10	0	0	0	1	0	5	10					T	168812874	C	T	168812874	2	4	387	1	0	0	0	0	0	0	0	1	9422	842	30	2		2	MECOM	3	168812874	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	38624720	168812874	29209556	13	34851											
PPEF2	5470	broad.mit.edu	37	chr4	76794286	76794286	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagggagcacccaccttgcgGttgtgacagaattcatagcc	12	11	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:76794286G>C	ENST00000286719.7	-	12	1856	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	500	Catalytic.				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)			CCACCTTGCGGTTGTGACAGA	0.488																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				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						c.(1498-1500)aaC>aaG		protein phosphatase, EF-hand calcium binding domain 2							145	132	136					4																	76794286		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794286G>C	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.1500C>G	4.37:g.76794286G>C	ENSP00000286719:p.Asn500Lys						p.N500K	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1856	-			500			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1500C>G	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590758	0.13812	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05925	3.37	4.85	-0.22	0.13130	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.193492	0.53938	D	0.000059	T	0.03915	0.0110	L	0.31371	0.925	0.27077	N	0.96319	B;B	0.28713	0.03;0.22	B;B	0.27262	0.078;0.036	T	0.32481	-0.9905	10	0.42905	T	0.14	-2.8501	3.6765	0.08294	0.4703:0.0:0.3546:0.1751	.	500;500	O14830-2;O14830	.;PPE2_HUMAN	K	500	ENSP00000286719:N500K	ENSP00000286719:N500K	N	-	3	2	PPEF2	77013310	1.000000	0.71417	0.964000	0.40570	0.004000	0.04260	0.683000	0.25349	0.015000	0.14971	-0.251000	0.11542	AAC		0.488	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		15	32	0	0	0	1	0	15	32					C	76794286	G	C	76794286	3	2	387	1	0	0	0	0	1	0	0	0	12308	1252	44	4	785	4	PPEF2	4	76794286	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		76794286	114359990	14	34852											
DCHS2	54798	broad.mit.edu	37	chr4	155287481	155287481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgatgatctcggtgcctGgctgggtctcatcactgatg	12	10	3	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:155287481G>A	ENST00000357232.4	-	5	574	c.575C>T	c.(574-576)cCa>cTa	p.P192L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	192	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)|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)		CTCGGTGCCTGGCTGGGTCTC	0.493																																						ENST00000357232.3																			0				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						c.(574-576)cCa>cTa		dachsous cadherin-related 2							192	155	167					4																	155287481		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287481G>A	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.575C>T	4.37:g.155287481G>A	ENSP00000349768:p.Pro192Leu					DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	p.P192L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	574	-	all_hematologic(180;0.208)	Renal(120;0.0854)	192			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.575C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138879	0.56936	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.59906	0.23;0.23	5.82	4.98	0.66077	Cadherin (3);Cadherin-like (1);	0.000000	0.56097	D	0.000025	T	0.57140	0.2033	L	0.46885	1.475	0.80722	D	1	P;B	0.34639	0.461;0.246	B;B	0.40636	0.335;0.088	T	0.58945	-0.7546	10	0.51188	T	0.08	.	14.6097	0.68507	0.0705:0.0:0.9295:0.0	.	786;192	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	192;786;786	ENSP00000349768:P192L;ENSP00000345062:P786L	ENSP00000345062:P786L	P	-	2	0	DCHS2	155506931	1.000000	0.71417	0.459000	0.27081	0.649000	0.38597	6.993000	0.76245	1.472000	0.48140	0.650000	0.86243	CCA		0.493	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		8	29	0	0	0	1	0	8	29					A	155287481	G	A	155287481	3	1	387	1	0	0	0	0	1	0	0	0	4288	1348	47	2	8355	2	DCHS2	4	155287481	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	78493195	155287481	35866795	15	34853											
PRPF4B	8899	broad.mit.edu	37	chr6	4037671	4037671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagtagacgtgaaagaTcaaaagatgccagccccatc	8	12	2	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:4037671T>G	ENST00000337659.6	+	3	1379	c.1279T>G	c.(1279-1281)Tca>Gca	p.S427A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	427	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)				ACGTGAAAGATCAAAAGATGC	0.413																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1279-1281)Tca>Gca		pre-mRNA processing factor 4B							86	78	80					6																	4037671		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4037671T>G	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.1279T>G	6.37:g.4037671T>G	ENSP00000337194:p.Ser427Ala					PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	p.S427A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			3	1379	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	427			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1279T>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792311	0.70452	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69040	-0.36;-0.37	4.92	4.92	0.64577	.	0.105838	0.42294	D	0.000727	T	0.32466	0.0830	N	0.24115	0.695	0.44956	D	0.997975	B	0.06786	0.001	B	0.04013	0.001	T	0.22103	-1.0226	10	0.20046	T	0.44	.	10.9397	0.47266	0.0:0.0:0.1568:0.8432	.	427	Q13523	PRP4B_HUMAN	A	427;413	ENSP00000337194:S427A;ENSP00000439331:S413A	ENSP00000337194:S427A	S	+	1	0	PRPF4B	3982670	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.930000	0.48924	1.950000	0.56595	0.528000	0.53228	TCA		0.413	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			22	26	0	0	0	1	0	22	26					G	4037671	T	G	4037671	3	3	387	1	0	0	0	0	1	0	0	0	12573	1435	50	5	1289	5	PRPF4B	6	4037671	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		4037671	167077396	16	34854											
SCAND3	114821	broad.mit.edu	37	chr6	28554109	28554109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaagctccctctccaaaTcttccagcaaagtcaccacc	3	18	4	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:28554109T>C	ENST00000452236.2	-	1	1003	c.386A>G	c.(385-387)gAt>gGt	p.D129G	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	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						CCTCTCCAAATCTTCCAGCAA	0.522																																						ENST00000452236.2																			0				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						c.(385-387)gAt>gGt		SCAN domain containing 3							168	177	174					6																	28554109		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554109T>C																												ENST00000452236.2:c.386A>G	6.37:g.28554109T>C	ENSP00000395259:p.Asp129Gly					SCAND3_ENST00000530247.1_Intron	p.D129G	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	1003	-			129			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.386A>G	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601877	0.66445	.	.	ENSG00000232040	ENST00000452236	T	0.06687	3.27	3.37	3.37	0.38596	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.14787	0.0357	M	0.73430	2.235	0.31522	N	0.662224	D	0.63046	0.992	D	0.67231	0.95	T	0.01283	-1.1396	9	0.72032	D	0.01	.	10.0856	0.42417	0.0:0.0:0.0:1.0	.	129	Q6R2W3	SCND3_HUMAN	G	129	ENSP00000395259:D129G	ENSP00000395259:D129G	D	-	2	0	SCAND3	28662088	0.994000	0.37717	0.992000	0.48379	0.957000	0.61999	1.732000	0.38146	1.541000	0.49316	0.533000	0.62120	GAT		0.522	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			6	180	0	0	0	1	0	6	180					C	28554109	T	C	28554109	3	2	387	1	0	0	0	0	1	0	0	0	13876	1435	50	3	3607	3	SCAND3	6	28554109	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	24516438	28554109	142560958	17	34855											
C6orf138	442213	broad.mit.edu	37	chr6	47846116	47846116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcctttcgcttggcacGtttctttttcttgtggtgct	8	11	3	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:47846116G>A	ENST00000339488.4	-	3	2497	c.2464C>T	c.(2464-2466)Cgt>Tgt	p.R822C		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	822						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CGCTTGGCACGTTTCTTTTTC	0.448																																						ENST00000339488.4																			0											c.(2464-2466)Cgt>Tgt		patched domain containing 4							135	136	136					6																	47846116		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846116G>A		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.2464C>T	6.37:g.47846116G>A	ENSP00000341914:p.Arg822Cys						p.R822C	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2497	-			822					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2464C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324339	0.60634	.	.	ENSG00000244694	ENST00000339488	D	0.92545	-3.06	6.16	6.16	0.99307	.	0.106399	0.64402	D	0.000008	D	0.89636	0.6772	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.92027	0.5630	10	0.62326	D	0.03	.	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	822	Q6ZW05	CF138_HUMAN	C	822	ENSP00000341914:R822C	ENSP00000341914:R822C	R	-	1	0	C6orf138	47954075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	2.937000	0.99478	0.650000	0.86243	CGT		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		5	110	0	0	0	1	0	5	110					A	47846116	G	A	47846116	3	1	387	1	0	0	0	0	1	0	0	0	2332	1145	40	1	80	1	C6orf138	6	47846116	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	19292007	47846116	123268951	18	34856											
ABCA13	154664	broad.mit.edu	37	chr7	48314805	48314807	+	In_Frame_Del	DEL	TCT	TCT	-													gcaatgtccatgggctcatgTcttcttccttttatggcaaa							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:48314805_48314807delTCT	ENST00000435803.1	+	17	5566_5568	c.5542_5544delTCT	c.(5542-5544)tctdel	p.S1850del		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1850					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						TGGGCTCATGTCTTCTTCCTTTT	0.443																																						ENST00000435803.1																			0				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						c.(5542-5544)del		ATP-binding cassette, sub-family A (ABC1), member 13																																				SO:0001651	inframe_deletion	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314805_48314807delTCT	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.5542_5544delTCT	7.37:g.48314808_48314810delTCT	ENSP00000411096:p.Ser1850del						p.S1850del	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5566_5568	+			1850					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	In_Frame_Del	DEL	ENST00000435803.1	37	c.5542_5544delTCT	CCDS47584.1																																																																																				0.443	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	19						14	19	---	---	---	---	-	48314807	TCT	-	48314805	7	5	387	1	0	1	0	1	0	0	0	0	31	1667	58	0	5437	0	ABCA13	7	48314805	In_Frame_Del	DEL	TCT	TCGA-QH-A6CW-01A-11D-A32B-08		48314805	110823858	19	34857											
MET	4233	broad.mit.edu	37	chr7	116435788	116435788	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaacacctttgatataaCtgtttacttgttgcaaggga	8	7	0	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:116435788C>G	ENST00000318493.6	+	20	4119	c.3932C>G	c.(3931-3933)aCt>aGt	p.T1311S	MET_ENST00000397752.3_Missense_Mutation_p.T1293S|MET_ENST00000539704.1_Missense_Mutation_p.T163S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGATATAACTGTTTACTTG	0.453			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3877-3879)aCt>aGt		met proto-oncogene							208	200	202					7																	116435788		1881	4108	5989	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116435788C>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3932C>G	7.37:g.116435788C>G	ENSP00000317272:p.Thr1311Ser		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1473	MET_ENST00000539704.1_Missense_Mutation_p.T163S|MET_ENST00000318493.6_Missense_Mutation_p.T1311S	p.T1293S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		20	4078	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1293			Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3878C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074593	0.76415	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.34072	1.38;1.38;1.38	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.042563	0.85682	D	0.000000	T	0.42653	0.1212	N	0.05306	-0.075	0.80722	D	1	P;D	0.69078	0.783;0.997	P;D	0.80764	0.846;0.994	T	0.56226	-0.8014	10	0.72032	D	0.01	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1311;1293	P08581-2;P08581	.;MET_HUMAN	S	1293;1311;163	ENSP00000380860:T1293S;ENSP00000317272:T1311S;ENSP00000445020:T163S	ENSP00000317272:T1311S	T	+	2	0	MET	116223024	1.000000	0.71417	0.973000	0.42090	0.919000	0.55068	6.050000	0.71063	2.818000	0.97014	0.655000	0.94253	ACT		0.453	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			4	227	0	0	0	1	0	4	227					G	116435788	C	G	116435788	3	3	387	1	0	0	0	0	1	0	0	0	9485	565	20	4	4006	4	MET	7	116435788	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	68120983	116435788	42702875	20	34858											
ARMC1	55156	broad.mit.edu	37	chr8	66516636	66516636	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaagtgaagtcaccaaTaaaatgatctggataaaaag	7	7	2	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:66516636T>C	ENST00000276569.3	-	7	1086	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	281					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGTCACCAATAAAATGATCT	0.468																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(841-843)tAt>tGt		armadillo repeat containing 1							81	79	80					8																	66516636		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66516636T>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.842A>G	8.37:g.66516636T>C	ENSP00000276569:p.Tyr281Cys					ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	p.Y281C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		7	1086	-			281					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.842A>G	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716253	0.68844	.	.	ENSG00000104442	ENST00000276569;ENST00000458464	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.83235	-0.0061	9	0.87932	D	0	-25.8133	14.9216	0.70843	0.0:0.0:0.0:1.0	.	179;281	B4E2W7;Q9NVT9	.;ARMC1_HUMAN	C	281;179	.	ENSP00000276569:Y281C	Y	-	2	0	ARMC1	66679190	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.648000	0.83479	1.929000	0.55896	0.454000	0.30748	TAT		0.468	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		4	37	0	0	0	1	0	4	37					C	66516636	T	C	66516636	3	2	387	1	0	0	0	0	1	0	0	0	949	1406	49	3	10	3	ARMC1	8	66516636	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		66516636	79847386	21	34859											
KCNB2	9312	broad.mit.edu	37	chr8	73848182	73848182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagatcctggccatcGtgtctatcctgttcattgtg	8	11	2	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:73848182G>A	ENST00000523207.1	+	3	1180	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	198					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)	p.V198M(1)		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)	CCTGGCCATCGTGTCTATCCT	0.463																																						ENST00000523207.1																			1	Substitution - Missense(1)	p.V198M(1)	endometrium(1)	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						c.(592-594)Gtg>Atg		potassium voltage-gated channel, Shab-related subfamily, member 2							231	231	231					8																	73848182		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848182G>A	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.592G>A	8.37:g.73848182G>A	ENSP00000430846:p.Val198Met						p.V198M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1180	+	Breast(64;0.137)		198					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.592G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854152	0.71719	.	.	ENSG00000182674	ENST00000523207	D	0.97688	-4.49	5.87	5.0	0.66597	.	0.171423	0.27725	N	0.018110	D	0.96488	0.8854	L	0.45051	1.395	0.43308	D	0.99531	D	0.63046	0.992	P	0.50791	0.65	D	0.96097	0.9066	10	0.87932	D	0	.	10.8619	0.46831	0.1429:0.0:0.8571:0.0	.	198	Q92953	KCNB2_HUMAN	M	198	ENSP00000430846:V198M	ENSP00000430846:V198M	V	+	1	0	KCNB2	74010736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.301000	0.65727	1.485000	0.48380	0.655000	0.94253	GTG		0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		106	141	0	0	0	1	0	106	141					A	73848182	G	A	73848182	3	1	387	1	0	0	0	0	1	0	0	0	8013	1145	40	1	598	1	KCNB2	8	73848182	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	7331546	73848182	72515840	22	34860											
VPS28	51160	broad.mit.edu	37	chr8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgggaggtggctcatgCggtgcatggtctccatcagc	17	10	3	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:145649475C>T	ENST00000526054.1	-	8	534	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000377348.2_Missense_Mutation_p.R166H|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000292510.4_Missense_Mutation_p.R166H			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	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;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)			GTGGCTCATGCGGTGCATGGT	0.692																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(496-498)cGc>cAc		vacuolar protein sorting 28 homolog (S. cerevisiae)							53	59	57					8																	145649475		2203	4299	6502	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649475C>T	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.497G>A	8.37:g.145649475C>T	ENSP00000434064:p.Arg166His					VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H	p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	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)		9	586	-	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)		166			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.497G>A	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	c	19.14	3.770276	0.69992	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806	.	.	.	5.32	3.5	0.40072	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.049523	0.64402	D	0.000001	T	0.78039	0.4221	M	0.93150	3.385	0.58432	D	0.999997	D;P	0.58268	0.982;0.89	P;P	0.54759	0.76;0.614	T	0.83080	-0.0138	9	0.87932	D	0	.	10.4447	0.44486	0.0:0.8359:0.0:0.1641	.	166;166	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	H	166;166;166;166;149	.	ENSP00000292510:R166H	R	-	2	0	VPS28	145620283	1.000000	0.71417	0.973000	0.42090	0.187000	0.23431	3.575000	0.53870	1.490000	0.48466	-0.137000	0.14449	CGC		0.692	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			4	196	0	0	0	1	0	4	196					T	145649475	C	T	145649475	3	4	387	1	0	0	0	0	1	0	0	0	17196	768	27	1	290	1	VPS28	8	145649475	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	71801293	145649475	714547	23	34861											
HSD17B3	3293	broad.mit.edu	37	chr9	99007648	99007648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaagctgagtacatggaGtagagaggccaaggaaacag	15	5	0	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:99007648G>A	ENST00000375263.3	-	8	632	c.585C>T	c.(583-585)taC>taT	p.Y195Y	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	195					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				AGTACATGGAGTAGAGAGGCC	0.463																																						ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(583-585)taC>taT		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						152	140	144					9																	99007648		2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99007648G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5212	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 2"	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.585C>T	9.37:g.99007648G>A						HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y	p.Y195Y	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			8	632	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	195					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.585C>T	CCDS6716.1																																																																																				0.463	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		27	48	0	0	0	1	0	27	48					A	99007648	G	A	99007648	2	1	387	1	0	0	0	0	0	0	0	1	7385	1024	36	2		2	HSD17B3	9	99007648	Silent	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		99007648	42205783	24	34862											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713097	138713097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagggtggctgctggcaGggaagggtctcaagtgcggg	20	8	1	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:138713097G>A	ENST00000389532.4	-	11	3474	c.3410C>T	c.(3409-3411)cCt>cTt	p.P1137L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1137					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)		GCTGCTGGCAGGGAAGGGTCT	0.637																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3409-3411)cCt>cTt		calmodulin regulated spectrin-associated protein 1							54	67	62					9																	138713097		2202	4298	6500	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713097G>A	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.3410C>T	9.37:g.138713097G>A	ENSP00000374183:p.Pro1137Leu					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L	p.P1137L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3474	-			1137					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3410C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766666	0.49574	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15718	2.4;2.4;2.4	5.29	4.39	0.52855	.	0.485483	0.23426	N	0.048301	T	0.22282	0.0537	M	0.65975	2.015	0.18873	N	0.999984	B;B	0.11235	0.004;0.002	B;B	0.09377	0.003;0.004	T	0.17349	-1.0372	10	0.87932	D	0	-2.131	14.5017	0.67727	0.0719:0.0:0.9281:0.0	.	1137;1148	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	1137;859;1148	ENSP00000374183:P1137L;ENSP00000312463:P859L;ENSP00000386420:P1148L	ENSP00000312463:P859L	P	-	2	0	CAMSAP1	137852918	0.850000	0.29656	0.003000	0.11579	0.288000	0.27193	3.803000	0.55560	1.351000	0.45789	0.561000	0.74099	CCT		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	54	0	0	0	1	0	4	54					A	138713097	G	A	138713097	3	1	387	1	0	0	0	0	1	0	0	0	2611	1000	35	2	1426	2	CAMSAP1	9	138713097	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	39705449	138713097	2500334	25	34863											
NOTCH1	4851	broad.mit.edu	37	chr9	139393369	139393370	+	Frame_Shift_Del	DEL	TT	TT	-													accctgttgttctgcatatcTttgttagccccgttcttcag							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139393369_139393370delTT	ENST00000277541.6	-	33	6236_6237	c.6161_6162delAA	c.(6160-6162)aaafs	p.K2054fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2054					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)		TCTGCATATCTTTGTTAGCCCC	0.614			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(6160-6162)afs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393369_139393370delTT	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.6161_6162delAA	9.37:g.139393369_139393370delTT	ENSP00000277541:p.Lys2054fs	HNSCC(8;0.001)					p.K2054fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6236_6237	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2054					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.6161_6162delAA	CCDS43905.1																																																																																				0.614	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		26	162						26	162	---	---	---	---	-	139393370	TT	-	139393369	7	5	387	1	0	1	0	1	0	0	0	0	10547	1606	56	0	1513	0	NOTCH1	9	139393369	Frame_Shift_Del	DEL	TT	TCGA-QH-A6CW-01A-11D-A32B-08	680272	139393369	1820062	26	34864											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-													gccatggggacactcgcagtAgaaggaggccacacggtcat							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; 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)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	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						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	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.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	29						8	29	---	---	---	---	-	139413072	AGA	-	139413070	7	5	387	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-QH-A6CW-01A-11D-A32B-08	19701	139413070	1800361	27	34865											
KBTBD4	55709	broad.mit.edu	37	chr11	47594890	47594890	+	Frame_Shift_Del	DEL	T	T	-													agatcattctcctcccccccTagtaagtagatgatcccgtt					rs146935371		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:47594890delT	ENST00000526005.1	-	4	1302	c.1149delA	c.(1147-1149)ctafs	p.L383fs	KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L408fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	383										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						CCTCCCCCCCTAGTAAGTAGA	0.507																																						ENST00000533290.1																			0				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						c.(1222-1224)ctfs		kelch repeat and BTB (POZ) domain containing 4			,,,	1,4263		0,1,2131	129	121	124		,,,	5.8	0.8	11		126	3,8251		0,3,4124	no	utr-3,frameshift,frameshift,utr-3	KBTBD4,PTPMT1	NM_175732.2,NM_018095.4,NM_016506.5,NM_001143984.1	,,,	0,4,6255	A1A1,A1R,RR		0.0363,0.0235,0.032	,,,	,,,	47594890	4,12514	2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47594890delT	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.1149delA	11.37:g.47594890delT	ENSP00000433340:p.Leu383fs					KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L383fs	p.L408fs			Q9NVX7	KBTB4_HUMAN			3	1938	-			383					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.1224delA	CCDS7940.1																																																																																				0.507	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		10	105						10	105	---	---	---	---	-	47594890	T	-	47594890	7	5	387	1	0	1	0	1	0	0	0	0	7995	1509	53	0	411	0	KBTBD4	11	47594890	Frame_Shift_Del	DEL	T	TCGA-QH-A6CW-01A-11D-A32B-08		47594890	87411626	28	34866											
OR8D2	283160	broad.mit.edu	37	chr11	124190082	124190082	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccctgaagaatggttTgaagtagccatgtcttttaa	9	8	2	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:124190082T>G	ENST00000357438.2	-	1	102	c.12A>C	c.(10-12)tcA>tcC	p.S4S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	4						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGAATGGTTTGAAGTAGCCA	0.408																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(10-12)tcA>tcC		olfactory receptor, family 8, subfamily D, member 2							56	57	57					11																	124190082		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124190082T>G	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.12A>C	11.37:g.124190082T>G							p.S4S	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	102	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	4					B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.12A>C	CCDS31707.1																																																																																				0.408	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		9	62	0	0	0	1	0	9	62					G	124190082	T	G	124190082	2	3	387	1	0	0	0	0	0	0	0	1	11232	1799	63	5		5	OR8D2	11	124190082	Silent	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	76595192	124190082	10816434	29	34867											
NCAPD2	9918	broad.mit.edu	37	chr12	6634761	6634761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttagctctgtgagtttGtgcagaaggatgagttgaaa	12	5	2	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:6634761G>A	ENST00000315579.5	+	18	3026	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	743					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						CTGTGAGTTTGTGCAGAAGGA	0.493																																						ENST00000315579.5																			0				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						c.(2227-2229)Gtg>Atg		non-SMC condensin I complex, subunit D2							69	69	69					12																	6634761		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6634761G>A	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.2227G>A	12.37:g.6634761G>A	ENSP00000325017:p.Val743Met					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M	p.V743M	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			18	3026	+			743					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2227G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248016	0.39697	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31510	2.48;1.49;2.21	5.83	5.83	0.93111	Armadillo-type fold (1);	0.113975	0.64402	D	0.000009	T	0.24236	0.0587	L	0.33753	1.03	0.46823	D	0.999211	P;P;B	0.40619	0.724;0.485;0.394	B;B;B	0.39904	0.284;0.313;0.152	T	0.01889	-1.1253	10	0.27785	T	0.31	-29.8847	11.4065	0.49900	0.1393:0.0:0.8607:0.0	.	698;704;743	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	M	743;615;698;615	ENSP00000325017:V743M;ENSP00000371895:V615M;ENSP00000444417:V698M	ENSP00000325017:V743M	V	+	1	0	NCAPD2	6505022	1.000000	0.71417	0.999000	0.59377	0.106000	0.19336	3.902000	0.56310	2.762000	0.94881	0.655000	0.94253	GTG		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		4	35	0	0	0	1	0	4	35					A	6634761	G	A	6634761	3	1	387	1	0	0	0	0	1	0	0	0	10205	1377	48	2	2293	2	NCAPD2	12	6634761	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		6634761	127217134	30	34868											
ATN1	1822	broad.mit.edu	37	chr12	7045601	7045603	+	In_Frame_Del	DEL	TCC	TCC	-													cagcctcctcttccagttctTcctcctcttcctctgcctcc							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:7045601_7045603delTCC	ENST00000356654.4	+	5	1408_1410	c.1171_1173delTCC	c.(1171-1173)tccdel	p.S395del	ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	395	Poly-Ser.				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						ttccagttcttcctcctcttcct	0.586																																						ENST00000356654.4																			0				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						c.(1171-1173)del		atrophin 1																																				SO:0001651	inframe_deletion	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045601_7045603delTCC	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.1171_1173delTCC	12.37:g.7045604_7045606delTCC	ENSP00000349076:p.Ser395del					ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1408_1410	+			395			Poly-Ser.		Q99495|Q99621|Q9UEK7	In_Frame_Del	DEL	ENST00000356654.4	37	c.1171_1173delTCC	CCDS31734.1																																																																																				0.586	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		10	65						10	65	---	---	---	---	-	7045603	TCC	-	7045601	7	5	387	1	0	1	0	1	0	0	0	0	1111	1783	62	0	1185	0	ATN1	12	7045601	In_Frame_Del	DEL	TCC	TCGA-QH-A6CW-01A-11D-A32B-08	410840	7045601	126806294	31	34869											
ATP7B	540	broad.mit.edu	37	chr13	52524503	52524503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttgacgatatcgcccCgctgcaccagctccatgggg	10	17	0	1	rs368589213		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr13:52524503C>T	ENST00000242839.4	-	10	2636	c.2480G>A	c.(2479-2481)cGg>cAg	p.R827Q	ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	827					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)	GATATCGCCCCGCTGCACCAG	0.572									Wilson disease																													ENST00000242839.4																			0				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	GRCh37	CM076005	ATP7B	M		c.(2479-2481)cGg>cAg		ATPase, Cu++ transporting, beta polypeptide		C	GLN/ARG,GLN/ARG	2,4296		0,2,2147	74	78	77		2480,1994	5.5	1	13		77	0,8512		0,0,4256	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	43,43	0,2,6403	TT,TC,CC		0.0,0.0465,0.0156	probably-damaging,probably-damaging	827/1466,665/1259	52524503	2,12808	2149	4256	6405	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524503C>T	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.2480G>A	13.37:g.52524503C>T	ENSP00000242839:p.Arg827Gln					ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q	p.R827Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2636	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	827					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2480G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788151	0.96945	4.65E-4	0.0	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000418097	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.54	5.54	0.83059	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	N	0.25060	0.705	0.80722	D	1	D;P;D;D;B;D;P	0.89917	0.99;0.901;1.0;0.991;0.014;1.0;0.956	P;P;D;P;B;D;P	0.91635	0.515;0.613;0.999;0.716;0.002;0.998;0.506	D	0.93242	0.6627	10	0.62326	D	0.03	-8.5042	19.4611	0.94918	0.0:1.0:0.0:0.0	.	749;779;827;99;716;665;827	E7ET55;B7ZLR4;F5H748;E7EQQ2;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	Q	827;716;665;99;749;827	ENSP00000242839:R827Q;ENSP00000383217:R716Q;ENSP00000342559:R665Q;ENSP00000390360:R99Q;ENSP00000416738:R749Q;ENSP00000393343:R827Q	ENSP00000242839:R827Q	R	-	2	0	ATP7B	51422504	0.999000	0.42202	0.975000	0.42487	0.943000	0.58893	7.732000	0.84908	2.608000	0.88229	0.655000	0.94253	CGG		0.572	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		3	30	0	0	0	1	0	3	30					T	52524503	C	T	52524503	3	4	387	1	0	0	0	0	1	0	0	0	1191	652	23	1	1965	1	ATP7B	13	52524503	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		52524503	62645375	32	34870											
OR4K17	390436	broad.mit.edu	37	chr14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacccttgcttcttttgCcacccctaaggtgattctga	7	12	2	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398																																						ENST00000315543.4																			1	Substitution - Missense(1)	p.A108V(1)	kidney(1)	kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(322-324)gCc>gTc		olfactory receptor, family 4, subfamily K, member 17							161	168	166					14																	20585888		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585888C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.323C>T	14.37:g.20585888C>T	ENSP00000319197:p.Ala108Val						p.A108V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	323	+	all_cancers(95;0.00108)		80					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.323C>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	9.977	1.226987	0.22542	.	.	ENSG00000176230	ENST00000315543	T	0.00597	6.31	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.246509	0.20479	U	0.091527	T	0.00384	0.0012	N	0.04260	-0.245	0.24184	N	0.995571	B	0.06786	0.001	B	0.10450	0.005	T	0.47315	-0.9127	10	0.49607	T	0.09	.	8.9177	0.35592	0.0:0.8792:0.0:0.1208	.	80	Q8NGC6	OR4KH_HUMAN	V	108	ENSP00000319197:A108V	ENSP00000319197:A108V	A	+	2	0	OR4K17	19655728	0.000000	0.05858	0.997000	0.53966	0.547000	0.35210	0.338000	0.19858	0.509000	0.28195	0.404000	0.27445	GCC		0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			4	193	0	0	0	1	0	4	193					T	20585888	C	T	20585888	3	4	387	1	0	0	0	0	1	0	0	0	11071	739	26	2	325	2	OR4K17	14	20585888	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		20585888	86763652	33	34871											
MYH7	4625	broad.mit.edu	37	chr14	23894938	23894938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtactggttgtgatcaAtgtccagggagctgagcagc	13	8	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:23894938A>G	ENST00000355349.3	-	20	2414	c.2252T>C	c.(2251-2253)aTt>aCt	p.I751T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	751	Myosin motor.				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)		GTTGTGATCAATGTCCAGGGA	0.493																																						ENST00000355349.3																			0				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						c.(2251-2253)aTt>aCt		myosin, heavy chain 7, cardiac muscle, beta							129	113	118					14																	23894938		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894938A>G	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.2252T>C	14.37:g.23894938A>G	ENSP00000347507:p.Ile751Thr						p.I751T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	20	2414	-	all_cancers(95;2.54e-05)		751			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2252T>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551582	0.86127	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95482	-3.72	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.97328	0.9126	M	0.87097	2.86	0.58432	D	0.999999	P	0.39809	0.689	P	0.53185	0.72	D	0.98290	1.0513	9	0.87932	D	0	.	14.6525	0.68808	1.0:0.0:0.0:0.0	.	751	P12883	MYH7_HUMAN	T	751	ENSP00000347507:I751T	ENSP00000347507:I751T	I	-	2	0	MYH7	22964778	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.765000	0.91724	2.048000	0.60808	0.533000	0.62120	ATT		0.493	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		20	32	0	0	0	1	0	20	32					G	23894938	A	G	23894938	3	3	387	1	0	0	0	0	1	0	0	0	10039	101	4	3	3639	3	MYH7	14	23894938	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	3309050	23894938	83454602	34	34872											
AHNAK2	113146	broad.mit.edu	37	chr14	105418743	105418743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccaaggccttgatggaCttccctggggccgatacccc	10	16	0	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:105418743C>T	ENST00000333244.5	-	7	3164	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1015						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)			CCTTGATGGACTTCCCTGGGG	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3043-3045)aaG>aaA		AHNAK nucleoprotein 2							204	220	215					14																	105418743		1973	4174	6147	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418743C>T	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.3045G>A	14.37:g.105418743C>T						AHNAK2_ENST00000557457.1_Intron	p.K1015K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3164	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1015					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3045G>A	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	206	0	0	0	1	0	5	206					T	105418743	C	T	105418743	2	4	387	1	0	0	0	0	0	0	0	1	415	564	20	2		2	AHNAK2	14	105418743	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	81523805	105418743	1930797	35	34873											
C15orf42	90381	broad.mit.edu	37	chr15	90167942	90167942	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagagcatgtcactctcctCagtgaagccgaacaccatgg	9	13	3	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr15:90167942C>T	ENST00000268138.7	+	20	4506	c.4401C>T	c.(4399-4401)ctC>ctT	p.L1467L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1466L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1467					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)										TCACTCTCCTCAGTGAAGCCG	0.522																																						ENST00000268138.7																			0											c.(4399-4401)ctC>ctT		TOPBP1-interacting checkpoint and replication regulator							103	88	93					15																	90167942		2200	4299	6499	SO:0001819	synonymous_variant	90381							g.chr15:90167942C>T	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.4401C>T	15.37:g.90167942C>T						KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1466L	p.L1467L							20	4506	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4401C>T	CCDS10352.2																																																																																				0.522	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		19	24	0	0	0	1	0	19	24					T	90167942	C	T	90167942	2	4	387	1	0	0	0	0	0	0	0	1	1796	813	29	2		2	C15orf42	15	90167942	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		90167942	12363450	36	34874											
CDH16	1014	broad.mit.edu	37	chr16	66946006	66946006	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacactctgcaccaccaccAccacctcatgacttggagct	5	19	2	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr16:66946006A>C	ENST00000299752.4	-	13	1779	c.1586T>G	c.(1585-1587)gTg>gGg	p.V529G	CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G|CDH16_ENST00000568632.1_Missense_Mutation_p.V432G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V529A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCACCACCACCACCTCATG	0.642																																						ENST00000299752.4																			1	Substitution - Missense(1)	p.V529A(1)	large_intestine(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1585-1587)gTg>gGg		cadherin 16, KSP-cadherin							45	44	44					16																	66946006		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946006A>C	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1586T>G	16.37:g.66946006A>C	ENSP00000299752:p.Val529Gly					CDH16_ENST00000568632.1_Missense_Mutation_p.V432G|CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G	p.V529G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	13	1779	-		Ovarian(137;0.0563)	529			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1586T>G	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158582	0.38119	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53640	0.61;0.61	5.07	5.07	0.68467	Cadherin (4);Cadherin-like (1);	0.074361	0.53938	D	0.000050	T	0.70789	0.3264	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	T	0.76030	-0.3108	10	0.72032	D	0.01	-8.8008	11.509	0.50483	1.0:0.0:0.0:0.0	.	529;529;529	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	G	529;529;493	ENSP00000377619:V529G;ENSP00000299752:V529G	ENSP00000299752:V529G	V	-	2	0	CDH16	65503507	0.912000	0.30974	0.993000	0.49108	0.047000	0.14425	2.918000	0.48829	2.044000	0.60594	0.379000	0.24179	GTG		0.642	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		18	27	0	0	0	1	0	18	27					C	66946006	A	C	66946006	3	2	387	1	0	0	0	0	1	0	0	0	3101	159	6	5	927	5	CDH16	16	66946006	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		66946006	23408747	37	34875											
TP53	7157	broad.mit.edu	37	chr17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagttggcaaaacatcTtgttgagggcaggggagtac	15	7	1	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000420246.2_Missense_Mutation_p.K132R|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132R	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(1)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(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						c.(394-396)aAg>aGg	Other conserved DNA damage response genes	tumor protein p53							46	47	47					17																	7578535		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578535T>C	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.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg	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)				TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000269305.4_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R	p.K132R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	527	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.395A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	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	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	5	0	0	0	1	0	31	5					C	7578535	T	C	7578535	3	2	387	1	0	0	0	0	1	0	0	0	16378	1609	56	3	903	3	TP53	17	7578535	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		7578535	73616675	38	34876											
TCEB3B	51224	broad.mit.edu	37	chr18	44560214	44560214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaatccgaaagcggatcGtagttggcctgcatccaggc	12	11	1	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:44560214G>A	ENST00000332567.4	-	1	1774	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	474					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCGGATCGTAGTTGGCCT	0.607																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1420-1422)taC>taT		transcription elongation factor B polypeptide 3B (elongin A2)							58	65	63					18																	44560214		2203	4300	6503	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560214G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1422C>T	18.37:g.44560214G>A						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.Y474Y	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1774	-			474					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.1422C>T	CCDS11932.1																																																																																				0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		5	92	0	0	0	1	0	5	92					A	44560214	G	A	44560214	2	1	387	1	0	0	0	0	0	0	0	1	15679	1140	40	1		1	TCEB3B	18	44560214	Silent	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		44560214	33517034	39	34877											
PHLPP1	23239	broad.mit.edu	37	chr18	60645537	60645537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtccacgcgcatcctgGgctacaccttcctccatccc	7	19	0	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:60645537G>A	ENST00000262719.5	+	17	4261	c.4027G>A	c.(4027-4029)Ggc>Agc	p.G1343S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G831S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1343	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						GCGCATCCTGGGCTACACCTT	0.572																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2491-2493)Ggc>Agc		PH domain and leucine rich repeat protein phosphatase 1							45	50	48					18																	60645537		2157	4250	6407	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645537G>A	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.4027G>A	18.37:g.60645537G>A	ENSP00000262719:p.Gly1343Ser					PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1343S	p.G831S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4272	+			1343					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2491G>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	31	5.099902	0.94197	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.69806	-0.43;-0.43	4.54	4.54	0.55810	Protein phosphatase 2C-like (4);	.	.	.	.	D	0.84174	0.5414	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87653	0.2529	9	0.87932	D	0	-20.0408	17.512	0.87763	0.0:0.0:1.0:0.0	.	1343	O60346	PHLP1_HUMAN	S	831;1343	ENSP00000383170:G831S;ENSP00000262719:G1343S	ENSP00000262719:G1343S	G	+	1	0	PHLPP1	58796517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.484000	0.97940	2.349000	0.79799	0.655000	0.94253	GGC		0.572	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		7	11	0	0	0	1	0	7	11					A	60645537	G	A	60645537	3	1	387	1	0	0	0	0	1	0	0	0	11854	1232	43	2	4093	2	PHLPP1	18	60645537	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	16085323	60645537	17431711	40	34878											
SMARCA4	6597	broad.mit.edu	37	chr19	11123693	11123693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcctggccgacgagatGggcctggggaagaccatcca	15	12	0	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11123693G>A	ENST00000429416.3	+	17	2624	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M781I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	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)				CCGACGAGATGGGCCTGGGGA	0.577			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(2341-2343)atG>atA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							169	110	130					19																	11123693		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11123693G>A	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.2343G>A	19.37:g.11123693G>A	ENSP00000395654:p.Met781Ile					SMARCA4_ENST00000429416.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I	p.M781I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			16	2627	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	781			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2343G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820895	0.90873	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.99811	4.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.991;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.992;0.999;0.999	D	0.99177	1.0866	10	0.87932	D	0	-46.3851	16.6409	0.85098	0.0:0.0:1.0:0.0	.	781;781;781;781;781;781;781	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	I	781;781;845;781;781;781;781;781	ENSP00000395654:M781I;ENSP00000350720:M781I;ENSP00000343896:M781I;ENSP00000445036:M781I;ENSP00000392837:M781I;ENSP00000397783:M781I;ENSP00000414727:M781I	ENSP00000343896:M781I	M	+	3	0	SMARCA4	10984693	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	ATG		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		5	48	0	0	0	1	0	5	48					A	11123693	G	A	11123693	3	1	387	1	0	0	0	0	1	0	0	0	14770	1348	47	2	2401	2	SMARCA4	19	11123693	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		11123693	48005290	41	34879											
SMARCA4	6597	broad.mit.edu	37	chr19	11144027	11144027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgaggtgcgtgtgctccGcctctgcaccgtcaacagcg	13	14	2	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11144027G>A	ENST00000429416.3	+	27	3889	c.3608G>A	c.(3607-3609)cGc>cAc	p.R1203H	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1203H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1203	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				CGTGTGCTCCGCCTCTGCACC	0.627			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(3607-3609)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							90	86	87					19																	11144027		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144027G>A	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.3608G>A	19.37:g.11144027G>A	ENSP00000395654:p.Arg1203His					SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H	p.R1203H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3892	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1203			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3608G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684020	0.88639	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.124066	0.56097	D	0.000033	D	0.98632	0.9542	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0;1.0;0.993	D;D;D;P;D;D;P	0.85130	0.995;0.997;0.997;0.868;0.99;0.997;0.772	D	0.99640	1.0988	10	0.87932	D	0	-22.9681	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1203;1203;1203;1203;1203;423;1203	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1203;1203;1267;1203;1203;1203;1203;1203	ENSP00000395654:R1203H;ENSP00000350720:R1203H;ENSP00000343896:R1203H;ENSP00000445036:R1203H;ENSP00000392837:R1203H;ENSP00000397783:R1203H;ENSP00000414727:R1203H	ENSP00000343896:R1203H	R	+	2	0	SMARCA4	11005027	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	99	0	0	0	1	0	8	99					A	11144027	G	A	11144027	3	1	387	1	0	0	0	0	1	0	0	0	14770	1087	38	1	3706	1	SMARCA4	19	11144027	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	20334	11144027	47984956	42	34880											
SYDE1	85360	broad.mit.edu	37	chr19	15224628	15224630	+	In_Frame_Del	DEL	GAG	GAG	-													gtgacagcgaggacgaggacGaggaggtcggcgagccgagg					rs367745925		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:15224628_15224630delGAG	ENST00000342784.2	+	8	2093_2095	c.2062_2064delGAG	c.(2062-2064)gagdel	p.E689del	SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del|SYDE1_ENST00000600252.1_In_Frame_Del_p.E346del	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	689					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGACGAGGACGAGGAGGTCGGCG	0.64																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1033-1035)del		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)				4,4260		1,2,2129						-7.4	0.6			108	18,8236		6,6,4115	no	coding	SYDE1	NM_033025.4		7,8,6244	A1A1,A1R,RR		0.2181,0.0938,0.1757				22,12496				SO:0001651	inframe_deletion	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224628_15224630delGAG	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2062_2064delGAG	19.37:g.15224631_15224633delGAG	ENSP00000341489:p.Glu689del					SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del|SYDE1_ENST00000342784.2_In_Frame_Del_p.E689del	p.E346del			Q6ZW31	SYDE1_HUMAN			5	2675_2677	+			689					Q7L2I8|Q8N6J2|Q9H8K4	In_Frame_Del	DEL	ENST00000342784.2	37	c.1033_1035delGAG	CCDS12324.1																																																																																				0.64	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		8	184						8	184	---	---	---	---	-	15224630	GAG	-	15224628	7	5	387	1	0	1	0	1	0	0	0	0	15432	1059	37	0	2092	0	SYDE1	19	15224628	In_Frame_Del	DEL	GAG	TCGA-QH-A6CW-01A-11D-A32B-08	4080601	15224628	43904355	43	34881											
ZNF180	7733	broad.mit.edu	37	chr19	44982041	44982041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttagcatgtgatacatgTttatgaaaatggtttcttat	7	3	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:44982041T>C	ENST00000221327.4	-	5	938	c.657A>G	c.(655-657)aaA>aaG	p.K219K	ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Silent_p.K192K|ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	219					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(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGATACATGTTTATGAAAAT	0.353																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(655-657)aaA>aaG		zinc finger protein 180							86	86	86					19																	44982041		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982041T>C	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.657A>G	19.37:g.44982041T>C						ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Silent_p.K192K	p.K219K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	938	-		Prostate(69;0.0435)	219					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.657A>G	CCDS12639.1																																																																																				0.353	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		28	35	0	0	0	1	0	28	35					C	44982041	T	C	44982041	2	2	387	1	0	0	0	0	0	0	0	1	17745	1722	60	3		3	ZNF180	19	44982041	Silent	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	29757413	44982041	14146942	44	34882											
PRKD2	25865	broad.mit.edu	37	chr19	47181709	47181709	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaggcggcgttctggAtctggtcattgatgtcctca	12	9	4	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:47181709A>G	ENST00000291281.4	-	16	2507	c.2282T>C	c.(2281-2283)aTc>aCc	p.I761T	PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T|PRKD2_ENST00000433867.1_Missense_Mutation_p.I761T|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GGCGTTCTGGATCTGGTCATT	0.622																																						ENST00000433867.1																			0				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						c.(2281-2283)aTc>aCc		protein kinase D2							146	113	124					19																	47181709		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47181709A>G	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.2282T>C	19.37:g.47181709A>G	ENSP00000291281:p.Ile761Thr					PRKD2_ENST00000291281.4_Missense_Mutation_p.I761T|PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T	p.I761T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	17	2759	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	761			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2282T>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508873	0.85282	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.83419	-1.72;-1.72	4.65	4.65	0.58169	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	U	0.000004	D	0.87669	0.6235	L	0.47078	1.49	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.987;0.999;1.0	D	0.88863	0.3327	10	0.87932	D	0	-32.9686	13.3949	0.60846	1.0:0.0:0.0:0.0	.	761;246;761	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	761	ENSP00000291281:I761T;ENSP00000393978:I761T	ENSP00000291281:I761T	I	-	2	0	PRKD2	51873549	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.238000	0.95380	1.872000	0.54250	0.460000	0.39030	ATC		0.622	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		13	22	0	0	0	1	0	13	22					G	47181709	A	G	47181709	3	3	387	1	0	0	0	0	1	0	0	0	12519	333	12	3	366	3	PRKD2	19	47181709	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	2199668	47181709	11947274	45	34883											
SHANK1	50944	broad.mit.edu	37	chr19	51169573	51169573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctgccgaggagccccCaaactgctgaagcttggagc	13	14	0	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:51169573C>T	ENST00000293441.1	-	22	5662	c.5644G>A	c.(5644-5646)Ggg>Agg	p.G1882R	SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1882					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGAGCCCCCAAACTGCTGA	0.672																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(5644-5646)Ggg>Agg		SH3 and multiple ankyrin repeat domains 1							24	24	24					19																	51169573		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169573C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5644G>A	19.37:g.51169573C>T	ENSP00000293441:p.Gly1882Arg					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R	p.G1882R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5662	-		all_neural(266;0.057)	1882					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5644G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	6.962	0.547389	0.13312	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.49720	0.89;1.35;0.88;0.77	2.89	2.89	0.33648	.	0.196490	0.31010	U	0.008434	T	0.56124	0.1964	L	0.40543	1.245	0.31358	N	0.681699	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	T	0.60944	-0.7162	10	0.66056	D	0.02	.	11.0528	0.47901	0.0:1.0:0.0:0.0	.	1882;1269	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	R	1882;1269;1873;1890	ENSP00000293441:G1882R;ENSP00000375689:G1269R;ENSP00000351984:G1873R;ENSP00000375690:G1890R	ENSP00000293441:G1882R	G	-	1	0	SHANK1	55861385	0.993000	0.37304	1.000000	0.80357	0.706000	0.40770	2.324000	0.43831	1.620000	0.50308	0.195000	0.17529	GGG		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	22	0	0	0	1	0	4	22					T	51169573	C	T	51169573	3	4	387	1	0	0	0	0	1	0	0	0	14264	594	21	2	849	2	SHANK1	19	51169573	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	3987864	51169573	7959410	46	34884											
YWHAB	7529	broad.mit.edu	37	chr20	43534679	43534679	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaattggatacgctgaAtgaagagtcttataaagaca	10	5	1	5			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:43534679A>G	ENST00000372839.3	+	6	900	c.626A>G	c.(625-627)aAt>aGt	p.N209S	YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	209					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|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)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GATACGCTGAATGAAGAGTCT	0.388																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(625-627)aAt>aGt		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							145	142	143					20																	43534679		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43534679A>G	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.626A>G	20.37:g.43534679A>G	ENSP00000361930:p.Asn209Ser					YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	p.N209S	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			6	900	+		Myeloproliferative disorder(115;0.0122)	209					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.626A>G	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278779	0.23307	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.39406	1.08;1.08	5.63	4.53	0.55603	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	N	0.12569	0.235	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09729	-1.0661	10	0.02654	T	1	-21.402	11.8224	0.52247	0.9311:0.0:0.0689:0.0	.	209	P31946	1433B_HUMAN	S	209	ENSP00000300161:N209S;ENSP00000361930:N209S	ENSP00000300161:N209S	N	+	2	0	YWHAB	42968093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.216000	0.77974	1.062000	0.40625	0.533000	0.62120	AAT		0.388	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		35	71	0	0	0	1	0	35	71					G	43534679	A	G	43534679	3	3	387	1	0	0	0	0	1	0	0	0	17498	101	4	3	640	3	YWHAB	20	43534679	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		43534679	19490841	47	34885											
ZNF831	128611	broad.mit.edu	37	chr20	57766658	57766658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcacaggcggacgcagaCgcacctcaacaactcccggc	10	17	1	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:57766658C>T	ENST00000371030.2	+	1	584	c.584C>T	c.(583-585)aCg>aTg	p.T195M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195							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)					CGGACGCAGACGCACCTCAAC	0.672																																						ENST00000371030.2																			0				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						c.(583-585)aCg>aTg		zinc finger protein 831							46	54	51					20																	57766658		2053	4193	6246	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766658C>T	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.584C>T	20.37:g.57766658C>T	ENSP00000360069:p.Thr195Met						p.T195M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	584	+	all_lung(29;0.0085)		195					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.584C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709678	0.48517	.	.	ENSG00000124203	ENST00000371030	T	0.08546	3.08	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19604	0.0471	L	0.27053	0.805	0.35097	D	0.764876	D	0.71674	0.998	D	0.80764	0.994	T	0.09796	-1.0658	9	0.87932	D	0	-9.9604	18.1834	0.89786	0.0:1.0:0.0:0.0	.	195	Q5JPB2	ZN831_HUMAN	M	195	ENSP00000360069:T195M	ENSP00000360069:T195M	T	+	2	0	ZNF831	57200053	1.000000	0.71417	0.951000	0.38953	0.065000	0.16274	7.755000	0.85180	2.538000	0.85594	0.561000	0.74099	ACG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		36	48	0	0	0	1	0	36	48					T	57766658	C	T	57766658	3	4	387	1	0	0	0	0	1	0	0	0	18182	536	19	1	586	1	ZNF831	20	57766658	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	14231979	57766658	5258862	48	34886											
SBF1	6305	broad.mit.edu	37	chr22	50900706	50900706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgaagtaggcggctcTtgctgctgtccaggggcagg	16	12	1	0	rs556408484		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr22:50900706T>C	ENST00000390679.3	-	19	2508	c.2324A>G	c.(2323-2325)aAg>aGg	p.K775R	SBF1_ENST00000348911.6_Missense_Mutation_p.K776R|SBF1_ENST00000380817.3_Missense_Mutation_p.K775R			O95248	MTMR5_HUMAN	SET binding factor 1	775					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TAGGCGGCTCTTGCTGCTGTC	0.657																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2323-2325)aAg>aGg		SET binding factor 1							50	55	53					22																	50900706		2130	4229	6359	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900706T>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2324A>G	22.37:g.50900706T>C	ENSP00000375097:p.Lys775Arg					SBF1_ENST00000390679.3_Missense_Mutation_p.K775R|SBF1_ENST00000348911.6_Missense_Mutation_p.K776R	p.K775R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	19	2507	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	775					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2324A>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.446667	0.84101	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86865	-2.18;-2.18;-2.18	4.52	4.52	0.55395	.	1.930530	0.02724	N	0.114307	D	0.92961	0.7760	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.971;0.994;0.991	T	0.82127	-0.0611	10	0.33141	T	0.24	.	13.6779	0.62465	0.0:0.0:0.0:1.0	.	775;776;775	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	R	775;776;786;785;775	ENSP00000370196:K775R;ENSP00000252027:K776R;ENSP00000375097:K775R	ENSP00000336522:K785R	K	-	2	0	SBF1	49247572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.764000	0.62264	1.917000	0.55516	0.533000	0.62120	AAG		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				26	27	0	0	0	1	0	26	27					C	50900706	T	C	50900706	3	2	387	1	0	0	0	0	1	0	0	0	13858	1609	56	3	3449	3	SBF1	22	50900706	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		50900706	403860	49	34887											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	4						3	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	387	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-QH-A6CW-01A-11D-A32B-08		51239296	104031264	50	34888											
PHF8	23133	broad.mit.edu	37	chrX	53965658	53965658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgctttgctgtggccAggccctttttgggacgcttt	12	11	1	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:53965658A>G	ENST00000357988.5	-	22	3474	c.3116T>C	c.(3115-3117)cTg>cCg	p.L1039P	PHF8_ENST00000338946.6_Missense_Mutation_p.L902P|PHF8_ENST00000338154.6_Missense_Mutation_p.L1003P	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1039					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						TGCTGTGGCCAGGCCCTTTTT	0.547																																						ENST00000338154.6																			0				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						c.(3007-3009)cTg>cCg		PHD finger protein 8							127	98	108					X																	53965658		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53965658A>G	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.3116T>C	X.37:g.53965658A>G	ENSP00000350676:p.Leu1039Pro					PHF8_ENST00000338946.6_Missense_Mutation_p.L902P|PHF8_ENST00000357988.5_Missense_Mutation_p.L1039P	p.L1003P	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			22	3512	-			1039					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.3008T>C	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	19.99|19.99	3.927919|3.927919	0.73327|0.73327	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277|ENST00000396282	T;T;T|.	0.24908|.	2.11;1.85;1.83|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.178990|.	0.35903|.	N|.	0.002903|.	T|T	0.37073|0.37073	0.0990|0.0990	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.72075|.	0.946;0.976;0.946|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.87932|.	D|.	0|.	-5.1651|-5.1651	13.022|13.022	0.58794|0.58794	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	902;938;1039|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	P|R	1039;1003;902;932|907	ENSP00000350676:L1039P;ENSP00000338868:L1003P;ENSP00000340051:L902P|.	ENSP00000338868:L1003P|.	L|W	-|-	2|1	0|0	PHF8|PHF8	53982383|53982383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.885000|7.885000	0.87282|0.87282	1.784000|1.784000	0.52394|0.52394	0.414000|0.414000	0.27820|0.27820	CTG|TGG		0.547	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	30	0	0	0	1	0	7	30					G	53965658	A	G	53965658	3	3	387	1	0	0	0	0	1	0	0	0	11840	188	7	3	153	3	PHF8	23	53965658	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	2726362	53965658	101304902	51	34889											
HEPH	9843	broad.mit.edu	37	chrX	65486345	65486345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgcagatccccataaAgaatgttgagatgctggcct	12	9	0	3	rs200608069		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:65486345A>G	ENST00000343002.2	+	20	3972	c.3308A>G	c.(3307-3309)aAg>aGg	p.K1103R	HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000519389.1_Missense_Mutation_p.K1157R|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCCCCATAAAGAATGTTGAG	0.488													A|||	1	0.000264901	0.0	0.0	3775	,	,		14640	0.001		0.0	False		,,,				2504	0.0					ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3469-3471)aAg>aGg		hephaestin							305	206	239					X																	65486345		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486345A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3308A>G	X.37:g.65486345A>G	ENSP00000343939:p.Lys1103Arg					HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103R	p.K1157R			Q9BQS7	HEPH_HUMAN			21	3649	+			1103					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3470A>G		1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	15.45	2.837117	0.50951	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99292	-5.7;-5.69;-5.69;-5.67;-5.7;-5.69	5.11	3.95	0.45737	.	0.364044	0.23474	N	0.047797	D	0.96531	0.8868	L	0.29908	0.895	0.09310	N	1	B;B;B	0.22851	0.001;0.076;0.001	B;B;B	0.25614	0.001;0.062;0.001	D	0.90548	0.4507	10	0.13853	T	0.58	.	7.5349	0.27704	0.9011:0.0:0.0988:0.0	.	1157;914;1103	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	R	1157;1106;836;1105;914;1103	ENSP00000430620:K1157R;ENSP00000363859:K1106R;ENSP00000337418:K836R;ENSP00000411687:K1105R;ENSP00000413211:K914R;ENSP00000343939:K1103R	ENSP00000337418:K836R	K	+	2	0	HEPH	65403070	0.034000	0.19679	0.086000	0.20670	0.983000	0.72400	0.945000	0.29056	0.776000	0.33473	0.486000	0.48141	AAG		0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		7	30	0	0	0	1	0	7	30					G	65486345	A	G	65486345	3	3	387	1	0	0	0	0	1	0	0	0	7054	72	3	3	3552	3	HEPH	23	65486345	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	11520687	65486345	89784215	52	34890											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-													atcctgctttagtagaaatgAtaaataatcgtcctctgaaa							TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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.F2113fs*9(1)|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						AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(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						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	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.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	1						13	1	---	---	---	---	-	76814306	ATAA	-	76814303	7	5	387	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-QH-A6CW-01A-11D-A32B-08	11327958	76814303	78456257	53	34891											
AMOT	154796	broad.mit.edu	37	chrX	112048276	112048276	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attggtagaacgggcagtggCcagctccgcttccagcttct	12	12	1	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:112048276C>G	ENST00000524145.1	-	6	1749	c.1675G>C	c.(1675-1677)Gcc>Ccc	p.A559P	AMOT_ENST00000371959.3_Missense_Mutation_p.A559P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P			Q4VCS5	AMOT_HUMAN	angiomotin	559					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						CGGGCAGTGGCCAGCTCCGCT	0.522																																						ENST00000371959.3																			0				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						c.(1675-1677)Gcc>Ccc		angiomotin							268	229	242					X																	112048276		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048276C>G	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.1675G>C	X.37:g.112048276C>G	ENSP00000429013:p.Ala559Pro					AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000524145.1_Missense_Mutation_p.A559P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P	p.A559P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			5	1674	-			559					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1675G>C	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.933333	0.73442	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.96	2.85	0.33270	.	0.588557	0.19928	N	0.102935	T	0.24890	0.0604	M	0.70595	2.14	0.31156	N	0.704963	P	0.43169	0.8	B	0.38562	0.276	T	0.28138	-1.0053	10	0.51188	T	0.08	-1.8828	6.2963	0.21087	0.1378:0.6322:0.0:0.23	.	559	Q4VCS5	AMOT_HUMAN	P	150;559;327;559;327	ENSP00000305557:A150P;ENSP00000361027:A559P;ENSP00000361030:A327P;ENSP00000429013:A559P;ENSP00000361026:A327P	ENSP00000305557:A150P	A	-	1	0	AMOT	111934932	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.818000	0.39012	0.656000	0.30886	0.597000	0.82753	GCC		0.522	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		8	147	0	0	0	1	0	8	147					G	112048276	C	G	112048276	3	3	387	1	0	0	0	0	1	0	0	0	582	739	26	4	1607	4	AMOT	23	112048276	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	35233973	112048276	43222284	54	34892											
TTC22	55001	broad.mit.edu	37	chr1	55251700	55251700	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttgagttctggatctcGtaggacatccagggccatgt	12	10	2	1	rs540310870		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:55251700G>A	ENST00000371276.4	-	5	1079	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	326										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTGGATCTCGTAGGACATCC	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19266	0.0		0.0	False		,,,				2504	0.0					ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(976-978)Cga>Tga		tetratricopeptide repeat domain 22							85	76	79					1																	55251700		2203	4300	6503	SO:0001587	stop_gained	55001						binding	g.chr1:55251700G>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.976C>T	1.37:g.55251700G>A	ENSP00000360323:p.Arg326*					TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			5	1079	-			326					Q9NWT4	Nonsense_Mutation	SNP	ENST00000371276.4	37	c.976C>T	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074518	0.76415	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	.	.	.	4.16	-0.755	0.11061	.	0.677027	0.13787	N	0.362805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-19.7321	9.9746	0.41774	0.0:0.3926:0.4637:0.1438	.	.	.	.	X	326;326;107	.	ENSP00000360321:R326X	R	-	1	2	TTC22	55024288	0.477000	0.25909	0.009000	0.14445	0.762000	0.43233	2.906000	0.48735	0.005000	0.14708	0.462000	0.41574	CGA		0.542	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		11	28	0	0	0	1	0	11	28					A	55251700	G	A	55251700	4	1	388	1	0	0	0	0	0	1	0	0	16686	1153	40	1	848	1	TTC22	1	55251700	Nonsense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		55251700	193998921	1	34893											
LHX8	431707	broad.mit.edu	37	chr1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacgccacaagaaacacGtcagtcctaatcactcatcc	6	15	3	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(850-852)Gtc>Atc		LIM homeobox 8							295	264	274					1																	75622617		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622617G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"Homeoboxes / LIM class"	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.850G>A	1.37:g.75622617G>A	ENSP00000294638:p.Val284Ile					LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	p.V284I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1514	+			284					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.850G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852331	0.51270	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86097	-2.07;-2.06	5.12	5.12	0.69794	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.29908	0.895	0.80722	D	1	B	0.22480	0.07	B	0.16722	0.016	T	0.66400	-0.5933	10	0.27785	T	0.31	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	284	Q68G74	LHX8_HUMAN	I	284;274	ENSP00000294638:V284I;ENSP00000348597:V274I	ENSP00000294638:V284I	V	+	1	0	LHX8	75395205	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	7.404000	0.79996	2.556000	0.86216	0.455000	0.32223	GTC		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		32	101	0	0	0	1	0	32	101					A	75622617	G	A	75622617	3	1	388	1	0	0	0	0	1	0	0	0	8776	1145	40	1	880	1	LHX8	1	75622617	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	20370917	75622617	173628004	2	34894											
THEM5	284486	broad.mit.edu	37	chr1	151823573	151823573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggttggaaaagacagacCgacttcttctgggttggctg	13	9	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:151823573C>T	ENST00000368817.5	-	3	551	c.420G>A	c.(418-420)tcG>tcA	p.S140S	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	140					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.S140S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGACAGACCGACTTCTTCT	0.567																																						ENST00000368817.5																			1	Substitution - coding silent(1)	p.S140S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(418-420)tcG>tcA		thioesterase superfamily member 5							96	84	88					1																	151823573		2203	4300	6503	SO:0001819	synonymous_variant	284486						hydrolase activity	g.chr1:151823573C>T	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.420G>A	1.37:g.151823573C>T							p.S140S	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	551	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		140					Q5T1C3	Silent	SNP	ENST00000368817.5	37	c.420G>A	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	C	0.579	-0.837710	0.02692	.	.	ENSG00000196407	ENST00000453881	.	.	.	5.91	-11.8	0.00035	.	.	.	.	.	T	0.13030	0.0316	.	.	.	0.36872	D	0.888955	.	.	.	.	.	.	T	0.52260	-0.8599	4	.	.	.	-2.4985	3.0193	0.06070	0.5055:0.1225:0.0741:0.2978	.	.	.	.	Q	87	.	.	R	-	2	0	THEM5	150090197	0.000000	0.05858	0.002000	0.10522	0.228000	0.25075	-3.710000	0.00387	-4.767000	0.00033	-1.959000	0.00480	CGG		0.567	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		6	39	0	0	0	1	0	6	39					T	151823573	C	T	151823573	2	4	388	1	0	0	0	0	0	0	0	1	15856	639	23	1		1	THEM5	1	151823573	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	76200956	151823573	97427048	3	34895											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-													atgtgcagcacagaccttggAaaaaaggggtaaaggcaagt							TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642					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)			CAGACCTTGGAAAAAAGGGGT	0.418																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1924-1926)gafs		zinc finger CCCH-type containing 11A							55	54	54					1																	203819140		2203	4300	6503	SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819140delA		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.1925delA	1.37:g.203819140delA	ENSP00000438527:p.Glu642fs					ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5752	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		642					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Del	DEL	ENST00000545588.1	37	c.1925delA	CCDS30978.1																																																																																				0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		7	1785						7	1785	---	---	---	---	-	203819140	A	-	203819140	7	5	388	1	0	1	0	1	0	0	0	0	17557	246	9	0	1975	0	ZC3H11A	1	203819140	Frame_Shift_Del	DEL	A	TCGA-QH-A6CX-01A-11D-A32B-08	51995567	203819140	45431481	4	34896											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140	147	145					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		9	1474	0	0	0	1	0	9	1474					T	204170871	C	T	204170871	2	4	388	1	0	0	0	0	0	0	0	1	6570	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	351731	204170871	45079750	5	34897											
TMEM81	388730	broad.mit.edu	37	chr1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-													gaagctgtcactgctgcaggCccccccttagcgcacagagg					rs562433962	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(754-756)gcfs		transmembrane protein 81							88	82	84					1																	205052694		2203	4300	6503	SO:0001589	frameshift_variant	388730					integral to membrane		g.chr1:205052694delC	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.755delG	1.37:g.205052694delC	ENSP00000356135:p.Gly252fs						p.G252fs	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	951	-	all_cancers(21;0.144)|Breast(84;0.0437)		252					Q6UVZ4	Frame_Shift_Del	DEL	ENST00000367167.3	37	c.755delG	CCDS1450.1																																																																																				0.537	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		7	1355						7	1355	---	---	---	---	-	205052694	C	-	205052694	7	5	388	1	0	1	0	1	0	0	0	0	16202	739	26	0	16	0	TMEM81	1	205052694	Frame_Shift_Del	DEL	C	TCGA-QH-A6CX-01A-11D-A32B-08	881823	205052694	44197927	6	34898											
MIA3	375056	broad.mit.edu	37	chr1	222838722	222838722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccaggaagacgggacctgCctctccaccctcggggattt	11	15	1	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:222838722C>A	ENST00000344922.5	+	28	5510	c.5485C>A	c.(5485-5487)Cct>Act	p.P1829T	MIA3_ENST00000340535.7_Missense_Mutation_p.P707T|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T|AIDA_ENST00000474863.1_5'Flank	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1829	Pro-rich.				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)		ACGGGACCTGCCTCTCCACCC	0.493																																						ENST00000344922.5																			0				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						c.(5485-5487)Cct>Act		melanoma inhibitory activity family, member 3							191	192	192					1																	222838722		1889	4119	6008	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838722C>A		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.5485C>A	1.37:g.222838722C>A	ENSP00000340900:p.Pro1829Thr					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.P707T|MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T	p.P1829T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5510	+			1829			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.5485C>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598719	0.46318	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.10099	3.47;3.44;2.91	5.89	4.98	0.66077	.	.	.	.	.	T	0.27205	0.0667	M	0.64997	1.995	0.27590	N	0.949296	P;D	0.65815	0.867;0.995	B;P	0.60886	0.44;0.88	T	0.06285	-1.0835	9	0.36615	T	0.2	.	14.8273	0.70122	0.0:0.93:0.0:0.07	.	707;1829	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1829;1829;1770;707;707	ENSP00000340900:P1829T;ENSP00000340587:P1829T;ENSP00000345866:P707T	ENSP00000284471:P707T	P	+	1	0	MIA3	220905345	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	1.681000	0.37618	1.492000	0.48499	0.591000	0.81541	CCT		0.493	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		55	199	1	0	2.78941e-39	1	2.98865e-39	55	199					A	222838722	C	A	222838722	3	1	388	1	0	0	0	0	1	0	0	0	9565	739	26	4	5595	4	MIA3	1	222838722	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	17786028	222838722	26411899	7	34899											
OR2L3	391192	broad.mit.edu	37	chr1	248224254	248224254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtctggtaacaagtctAtctccttcactgggtgtggg	11	9	5	0	rs186782673		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:248224254A>G	ENST00000359959.3	+	1	271	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	91						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(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			TAACAAGTCTATCTCCTTCAC	0.433													a|||	1	0.000199681	0.0	0.0	5008	,	,		23212	0.001		0.0	False		,,,				2504	0.0					ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(271-273)Atc>Gtc		olfactory receptor, family 2, subfamily L, member 3							266	260	262					1																	248224254		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224254A>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.271A>G	1.37:g.248224254A>G	ENSP00000353044:p.Ile91Val					OR2L13_ENST00000366478.2_Intron	p.I91V	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	271	+	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)		91					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.271A>G	CCDS31104.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	10.56	1.385086	0.25031	.	.	ENSG00000198128	ENST00000359959	T	0.08634	3.07	1.91	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.259421	0.19931	U	0.102851	T	0.11707	0.0285	M	0.73598	2.24	0.28393	N	0.918987	B	0.10296	0.003	B	0.17979	0.02	T	0.09930	-1.0652	10	0.66056	D	0.02	.	9.2456	0.37523	1.0:0.0:0.0:0.0	.	91	Q8NG85	OR2L3_HUMAN	V	91	ENSP00000353044:I91V	ENSP00000353044:I91V	I	+	1	0	OR2L3	246290877	0.927000	0.31430	0.087000	0.20705	0.113000	0.19764	2.299000	0.43611	0.853000	0.35312	0.379000	0.24179	ATC		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		51	247	0	0	0	1	0	51	247					G	248224254	A	G	248224254	3	3	388	1	0	0	0	0	1	0	0	0	11008	449	16	3	273	3	OR2L3	1	248224254	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	25385532	248224254	1026367	8	34900											
ASTL	431705	broad.mit.edu	37	chr2	96789808	96789808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtctgaggctgccttgcCgaggcctctgcactgagctt	14	12	2	2	rs148115152		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:96789808C>T	ENST00000342380.2	-	9	1076	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		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						GCTGCCTTGCCGAGGCCTCTG	0.662																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(1075-1077)tcG>tcA		astacin-like metallo-endopeptidase (M12 family)		C		0,4406		0,0,2203	65	70	68		1077	0.7	0.5	2	dbSNP_134	68	1,8599		0,1,4299	no	coding-synonymous	ASTL	NM_001002036.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		359/432	96789808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789808C>T	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.1077G>A	2.37:g.96789808C>T							p.S359S	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	1076	-			359						Silent	SNP	ENST00000342380.2	37	c.1077G>A	CCDS33249.1																																																																																				0.662	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			13	73	0	0	0	1	0	13	73					T	96789808	C	T	96789808	2	4	388	1	0	0	0	0	0	0	0	1	1063	639	23	1		1	ASTL	2	96789808	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		96789808	146409565	9	34901											
EDAR	10913	broad.mit.edu	37	chr2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctgccgtgctgatgcGgtcaaagagttgcatgccgt	14	10	1	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109513512G>A	ENST00000258443.2	-	12	1628	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	EDAR_ENST00000409271.1_Missense_Mutation_p.R432C|EDAR_ENST00000376651.1_Missense_Mutation_p.R432C	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGCTGATGCGGTCAAAGAGT	0.562																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1294-1296)Cgc>Tgc		ectodysplasin A receptor							111	87	95					2																	109513512		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513512G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1198C>T	2.37:g.109513512G>A	ENSP00000258443:p.Arg400Cys					EDAR_ENST00000258443.2_Missense_Mutation_p.R400C|EDAR_ENST00000376651.1_Missense_Mutation_p.R432C	p.R432C			Q9UNE0	EDAR_HUMAN			12	1737	-			400					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1294C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189427	0.78789	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90197	-2.63;-2.63;-2.63	5.64	4.71	0.59529	Death (1);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92463	0.5979	10	0.87932	D	0	-42.9124	15.3824	0.74669	0.0:0.0:0.8601:0.1399	.	432;400	E9PC98;Q9UNE0	.;EDAR_HUMAN	C	432;400;432	ENSP00000386371:R432C;ENSP00000258443:R400C;ENSP00000365839:R432C	ENSP00000258443:R400C	R	-	1	0	EDAR	108879944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.970000	0.56824	2.651000	0.90000	0.650000	0.86243	CGC		0.562	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			4	16	0	0	0	1	0	4	16					A	109513512	G	A	109513512	3	1	388	1	0	0	0	0	1	0	0	0	4905	1116	39	1	152	1	EDAR	2	109513512	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	12723704	109513512	133685861	10	34902											
EDAR	10913	broad.mit.edu	37	chr2	109527458	109527458	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgatgaggacgatggcGatggccatgatgaagatggt	16	4	0	6			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109527458G>A	ENST00000258443.2	-	7	1030	c.600C>T	c.(598-600)atC>atT	p.I200I	EDAR_ENST00000409271.1_Silent_p.I200I|EDAR_ENST00000376651.1_Silent_p.I200I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	200					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ggacgatggcgatggccatga	0.577																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(598-600)atC>atT		ectodysplasin A receptor							156	126	137					2																	109527458		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109527458G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.600C>T	2.37:g.109527458G>A						EDAR_ENST00000258443.2_Silent_p.I200I|EDAR_ENST00000376651.1_Silent_p.I200I	p.I200I			Q9UNE0	EDAR_HUMAN			8	1043	-			200					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.600C>T	CCDS2081.1																																																																																				0.577	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	28	0	0	0	1	0	8	28					A	109527458	G	A	109527458	2	1	388	1	0	0	0	0	0	0	0	1	4905	1048	37	1		1	EDAR	2	109527458	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	13946	109527458	133671915	11	34903											
COL3A1	1281	broad.mit.edu	37	chr2	189873659	189873659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcattctagggctccccaGgccacccagggcaaccaggc	10	17	2	0	rs587779574		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:189873659G>A	ENST00000304636.3	+	48	3705	c.3535G>A	c.(3535-3537)Ggc>Agc	p.G1179S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1179	Triple-helical region.		G -> R (in EDS4).		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)	GGGCTCCCCAGGCCACCCAGG	0.522																																						ENST00000304636.3																			0				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	GRCh37	CM970363	COL3A1	M		c.(3535-3537)Ggc>Agc		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						62	71	68					2																	189873659		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189873659G>A	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.3535G>A	2.37:g.189873659G>A	ENSP00000304408:p.Gly1179Ser					COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	p.G1179S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3705	+			1179		G -> R (in EDS4).	Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3535G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670921	0.88348	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99607	-6.27;-6.27	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000070	D	0.99789	0.9911	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97169	0.9843	10	0.72032	D	0.01	.	19.0887	0.93217	0.0:0.0:1.0:0.0	.	1179	P02461	CO3A1_HUMAN	S	1179;876	ENSP00000304408:G1179S;ENSP00000315243:G876S	ENSP00000304408:G1179S	G	+	1	0	COL3A1	189581904	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	8.230000	0.89793	2.601000	0.87937	0.655000	0.94253	GGC		0.522	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		21	72	0	0	0	1	0	21	72					A	189873659	G	A	189873659	3	1	388	1	0	0	0	0	1	0	0	0	3688	1000	35	2	3725	2	COL3A1	2	189873659	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	80346201	189873659	53325714	12	34904											
IKZF2	22807	broad.mit.edu	37	chr2	213872293	213872293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccattgaagaccttgtAgatgtccttcagagagccct	8	11	2	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:213872293A>C	ENST00000434687.1	-	9	1681	c.1372T>G	c.(1372-1374)Tac>Gac	p.Y458D	IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000457361.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	458					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGACCTTGTAGATGTCCTTC	0.473																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1372-1374)Tac>Gac		IKAROS family zinc finger 2 (Helios)							176	173	174					2																	213872293		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872293A>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1372T>G	2.37:g.213872293A>C	ENSP00000412869:p.Tyr458Asp					IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000434687.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D	p.Y458D	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1540	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	458					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.1372T>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431013	0.62844	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.14022	3.29;3.26;3.29;3.33;3.29;3.37;2.54	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000007	T	0.32793	0.0841	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.994;0.999;0.994	D;D;D;P;D;P	0.85130	0.994;0.997;0.981;0.879;0.959;0.81	T	0.01626	-1.1309	10	0.87932	D	0	-9.0039	16.5205	0.84312	1.0:0.0:0.0:0.0	.	386;384;313;432;458;236	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	D	458;464;458;432;386;384;313;162	ENSP00000410447:Y458D;ENSP00000342876:Y464D;ENSP00000412869:Y458D;ENSP00000363439:Y432D;ENSP00000395203:Y386D;ENSP00000399574:Y384D;ENSP00000363447:Y313D	ENSP00000342876:Y464D	Y	-	1	0	IKZF2	213580538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.026000	0.76455	2.299000	0.77371	0.533000	0.62120	TAC		0.473	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		25	124	0	0	0	1	0	25	124					C	213872293	A	C	213872293	3	2	388	1	0	0	0	0	1	0	0	0	7615	420	15	5	212	5	IKZF2	2	213872293	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	23998634	213872293	29327080	13	34905											
MSL3L2	151507	broad.mit.edu	37	chr2	234775387	234775387	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctgtagactgcggcctgGatggattcaacaaacgtaag	11	9	2	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:234775387G>A	ENST00000438684.1	-	0	727					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTGCGGCCTGGATGGATTCAA	0.527																																						ENST00000438684.1																			0																				44	39	40					2																	234775387		692	1591	2283			0							g.chr2:234775387G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775387G>A								NR_024322.1						0	727	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.527	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		8	24	0	0	0	1	0	8	24					A	234775387	G	A	234775387	1	1	388	0	1	0	0	0	0	0	0	0	9880	1174	41	2		2	MSL3L2	2	234775387	RNA	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	20903094	234775387	8423986	14	34906											
SCN5A	6331	broad.mit.edu	37	chr3	38645309	38645309	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccaccccattgcagtccAcagtgctgttctttttgcca	7	14	1	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:38645309A>C	ENST00000333535.4	-	12	1933	c.1784T>G	c.(1783-1785)gTg>gGg	p.V595G	SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000413689.1_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	595					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)	ATTGCAGTCCACAGTGCTGTT	0.667																																						ENST00000413689.1																			0				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						c.(1783-1785)gTg>gGg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						79	83	82					3																	38645309		1994	4186	6180	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645309A>C	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.1784T>G	3.37:g.38645309A>C	ENSP00000328968:p.Val595Gly					SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000333535.4_Missense_Mutation_p.V595G	p.V595G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1977	-	Medulloblastoma(35;0.163)		595					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1784T>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872979	0.72180	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	4.18	4.18	0.49190	Domain of unknown function DUF3451 (1);	0.640820	0.15221	N	0.273939	D	0.95367	0.8496	M	0.86268	2.805	0.80722	D	1	P;D;D;P;B;P;P	0.55385	0.933;0.971;0.966;0.933;0.007;0.546;0.874	P;P;P;P;B;B;P	0.59357	0.856;0.784;0.836;0.856;0.011;0.191;0.447	D	0.94359	0.7586	10	0.38643	T	0.18	.	13.4041	0.60900	1.0:0.0:0.0:0.0	.	595;595;595;595;595;595;595	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	G	595	ENSP00000398962:V595G;ENSP00000398266:V595G;ENSP00000410257:V595G;ENSP00000388797:V595G;ENSP00000397915:V595G;ENSP00000416634:V595G;ENSP00000328968:V595G;ENSP00000399524:V595G;ENSP00000403355:V595G;ENSP00000413996:V595G	ENSP00000328968:V595G	V	-	2	0	SCN5A	38620313	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	6.106000	0.71511	1.757000	0.51966	0.459000	0.35465	GTG		0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		20	67	0	0	0	1	0	20	67					C	38645309	A	C	38645309	3	2	388	1	0	0	0	0	1	0	0	0	13922	159	6	5	4334	5	SCN5A	3	38645309	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08		38645309	159377121	15	34907											
CCR9	10803	broad.mit.edu	37	chr3	45943164	45943164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgtttccaccaacaTtgacatctgcttccaggtca	7	14	2	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:45943164T>C	ENST00000357632.2	+	3	1064	c.884T>C	c.(883-885)aTt>aCt	p.I295T	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	295					cellular defense response (GO:0006968)|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)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCCACCAACATTGACATCTGC	0.498																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(883-885)aTt>aCt		chemokine (C-C motif) receptor 9							185	160	168					3																	45943164		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943164T>C	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.884T>C	3.37:g.45943164T>C	ENSP00000350256:p.Ile295Thr					LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR	p.I295T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1064	+			295					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.884T>C	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.218820	0.39201	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37058	1.22;1.22;1.22	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.558462	0.18367	N	0.143383	T	0.34193	0.0889	L	0.42581	1.335	0.23889	N	0.99655	B	0.11235	0.004	B	0.13407	0.009	T	0.31503	-0.9941	10	0.72032	D	0.01	.	14.6699	0.68937	0.0:0.0:0.0:1.0	.	295	P51686	CCR9_HUMAN	T	295;283;283	ENSP00000350256:I295T;ENSP00000379292:I283T;ENSP00000348260:I283T	ENSP00000348260:I283T	I	+	2	0	CCR9	45918168	0.953000	0.32496	0.055000	0.19348	0.968000	0.65278	6.211000	0.72182	1.858000	0.53909	0.460000	0.39030	ATT		0.498	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			22	70	0	0	0	1	0	22	70					C	45943164	T	C	45943164	3	2	388	1	0	0	0	0	1	0	0	0	2948	1493	52	3	890	3	CCR9	3	45943164	Missense_Mutation	SNP	T	TCGA-QH-A6CX-01A-11D-A32B-08	7297855	45943164	152079266	16	34908											
OR5H14	403273	broad.mit.edu	37	chr3	97868982	97868982	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttatctgtatctttataCtatgggcccctcgccttcat	5	13	4	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:97868982C>A	ENST00000437310.1	+	1	813	c.753C>A	c.(751-753)taC>taA	p.Y251*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	251						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCTTTATACTATGGGCCCC	0.413																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(751-753)taC>taA		olfactory receptor, family 5, subfamily H, member 14							54	50	52					3																	97868982		2203	4298	6501	SO:0001587	stop_gained	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868982C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.753C>A	3.37:g.97868982C>A	ENSP00000401706:p.Tyr251*						p.Y251*	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	813	+			251					B9EH15	Nonsense_Mutation	SNP	ENST00000437310.1	37	c.753C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682006	0.29872	.	.	ENSG00000236032	ENST00000437310	.	.	.	2.49	1.58	0.23477	.	0.000000	0.42420	D	0.000703	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.6341	0.12516	0.0:0.6694:0.0:0.3306	.	.	.	.	X	251	.	ENSP00000401706:Y251X	Y	+	3	2	OR5H14	99351672	0.000000	0.05858	0.763000	0.31416	0.215000	0.24574	-0.872000	0.04219	0.365000	0.24400	0.195000	0.17529	TAC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			8	34	1	0	5.4927e-09	1	5.78179e-09	8	34					A	97868982	C	A	97868982	4	1	388	1	0	0	0	0	0	1	0	0	11160	576	20	4	755	4	OR5H14	3	97868982	Nonsense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	51925818	97868982	100153448	17	34909											
ABI3BP	25890	broad.mit.edu	37	chr3	100585771	100585771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctctggtgttttagattCggcaggtaatgccaaggttt	11	7	1	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:100585771C>T	ENST00000284322.5	-	10	1070	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ABI3BP_ENST00000471714.1_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	321					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGATTCGGCAGGTAAT	0.373																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(961-963)Gaa>Aaa		ABI family, member 3 (NESH) binding protein							99	93	95					3																	100585771		1837	4091	5928	SO:0001583	missense	25890					extracellular space		g.chr3:100585771C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.961G>A	3.37:g.100585771C>T	ENSP00000284322:p.Glu321Lys					ABI3BP_ENST00000284322.5_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K	p.E321K			Q7Z7G0	TARSH_HUMAN			10	1070	-			321					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.961G>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.99|18.99	3.740803|3.740803	0.69304|0.69304	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000483129	T;T|.	0.25912|.	1.99;1.77|.	5.91|5.91	5.03|5.03	0.67393|0.67393	.|.	0.346472|.	0.31797|.	N|.	0.007052|.	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.842;1.0|.	D;B;D|.	0.80764|.	0.991;0.214;0.994|.	T|T	0.67624|0.67624	-0.5623|-0.5623	10|5	0.13470|.	T|.	0.59|.	-12.4236|-12.4236	14.139|14.139	0.65308|0.65308	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	314;321;321|.	Q9H717;Q5JPC9;Q7Z7G0|.	.;.;TARSH_HUMAN|.	K|Q	321|96	ENSP00000420524:E321K;ENSP00000284322:E321K|.	ENSP00000284322:E321K|.	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	102068461|102068461	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.593000|2.593000	0.46180|0.46180	0.848000|0.848000	0.35191|0.35191	-0.797000|-0.797000	0.03246|0.03246	GAA|CGA		0.373	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	36	0	0	0	1	0	3	36					T	100585771	C	T	100585771	3	4	388	1	0	0	0	0	1	0	0	0	91	893	31	1	2370	1	ABI3BP	3	100585771	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	2716789	100585771	97436659	18	34910											
TRIM42	287015	broad.mit.edu	37	chr3	140397391	140397391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcactttccacaagggccGcctcaggagcatccatacct	7	16	2	0	rs146449412	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:140397391G>A	ENST00000286349.3	+	1	511	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	107						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAAGGGCCGCCTCAGGAGC	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18180	0.0		0.0	False		,,,				2504	0.0					ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(319-321)cGc>cAc		tripartite motif containing 42		G	HIS/ARG	2,4352		0,2,2175	27	27	27		320	4.8	1	3	dbSNP_134	27	1,8493		0,1,4246	no	missense	TRIM42	NM_152616.4	29	0,3,6421	AA,AG,GG		0.0118,0.0459,0.0233	probably-damaging	107/724	140397391	3,12845	2177	4247	6424	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397391G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.320G>A	3.37:g.140397391G>A	ENSP00000286349:p.Arg107His						p.R107H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			1	511	+			107					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.320G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239888	0.58995	4.59E-4	1.18E-4	ENSG00000155890	ENST00000286349	T	0.19806	2.12	4.75	4.75	0.60458	.	0.108834	0.41823	D	0.000818	T	0.22085	0.0532	L	0.29908	0.895	0.36902	D	0.890456	D	0.60160	0.987	P	0.48166	0.569	T	0.09357	-1.0678	10	0.87932	D	0	-14.7066	13.9895	0.64357	0.0:0.0:1.0:0.0	.	107	Q8IWZ5	TRI42_HUMAN	H	107	ENSP00000286349:R107H	ENSP00000286349:R107H	R	+	2	0	TRIM42	141880081	0.991000	0.36638	1.000000	0.80357	0.369000	0.29798	1.585000	0.36600	2.563000	0.86464	0.655000	0.94253	CGC		0.552	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		9	27	0	0	0	1	0	9	27					A	140397391	G	A	140397391	3	1	388	1	0	0	0	0	1	0	0	0	16514	1087	38	1	322	1	TRIM42	3	140397391	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	39811620	140397391	57625039	19	34911											
PCDHB6	56130	broad.mit.edu	37	chr5	140530216	140530216	+	Frame_Shift_Del	DEL	T	T	-													ttgcgagtcagagatataaaTgaccacgccccggaattccc							TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:140530216delT	ENST00000231136.1	+	1	378	c.378delT	c.(376-378)aatfs	p.N126fs	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	126	Cadherin 1. {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)	p.N126K(1)		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)			GAGATATAAATGACCACGCCC	0.453																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.N126K(1)	lung(1)	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						c.(376-378)aafs									54	60	58					5																	140530216		2203	4300	6503	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530216delT	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.378delT	5.37:g.140530216delT	ENSP00000231136:p.Asn126fs					PCDHB6_ENST00000543635.1_5'UTR	p.N126fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	378	+			126			Cadherin 1.		B2R8R9	Frame_Shift_Del	DEL	ENST00000231136.1	37	c.378delT	CCDS4248.1																																																																																				0.453	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	97						21	97	---	---	---	---	-	140530216	T	-	140530216	7	5	388	1	0	1	0	1	0	0	0	0	11546	1461	51	0	380	0	PCDHB6	5	140530216	Frame_Shift_Del	DEL	T	TCGA-QH-A6CX-01A-11D-A32B-08		140530216	40385044	20	34912											
PDE6A	5145	broad.mit.edu	37	chr5	149313501	149313501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagccccttacctggccacGtcgagtttcacagttgtgca	9	14	1	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:149313501G>A	ENST00000255266.5	-	3	828	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	237					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)	p.R237C(1)		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)	ACCTGGCCACGTCGAGTTTCA	0.473																																						ENST00000255266.5																			1	Substitution - Missense(1)	p.R237C(1)	endometrium(1)	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						c.(709-711)Cgt>Tgt		phosphodiesterase 6A, cGMP-specific, rod, alpha							80	71	74					5																	149313501		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149313501G>A		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.709C>T	5.37:g.149313501G>A	ENSP00000255266:p.Arg237Cys						p.R237C	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	828	-			237					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.709C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854748	0.71719	.	.	ENSG00000132915	ENST00000255266	T	0.71461	-0.57	5.68	5.68	0.88126	.	0.050389	0.64402	D	0.000001	T	0.81730	0.4884	M	0.75615	2.305	0.53688	D	0.999973	D	0.76494	0.999	D	0.65140	0.932	T	0.83148	-0.0105	10	0.87932	D	0	.	12.5785	0.56378	0.0:0.0:0.834:0.166	.	237	P16499	PDE6A_HUMAN	C	237	ENSP00000255266:R237C	ENSP00000255266:R237C	R	-	1	0	PDE6A	149293694	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	3.307000	0.51888	2.838000	0.97847	0.591000	0.81541	CGT		0.473	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			6	10	0	0	0	1	0	6	10					A	149313501	G	A	149313501	3	1	388	1	0	0	0	0	1	0	0	0	11645	1145	40	1	1953	1	PDE6A	5	149313501	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	8783285	149313501	31601759	21	34913											
DOCK2	1794	broad.mit.edu	37	chr5	169127065	169127065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtgacatcattcagattCgcaaggactatccacacctg	9	11	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:169127065C>T	ENST00000256935.8	+	13	1260	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	394					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)			CATTCAGATTCGCAAGGACTA	0.562																																						ENST00000256935.8																			0				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						c.(1180-1182)Cgc>Tgc		dedicator of cytokinesis 2							174	155	162					5																	169127065		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169127065C>T	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.1180C>T	5.37:g.169127065C>T	ENSP00000256935:p.Arg394Cys						p.R394C	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1260	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	394					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1180C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404853	0.83230	.	.	ENSG00000134516	ENST00000256935	T	0.04862	3.54	6.07	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.00939	-1.1507	10	0.49607	T	0.09	.	15.5036	0.75719	0.2096:0.7904:0.0:0.0	.	394	Q92608	DOCK2_HUMAN	C	394	ENSP00000256935:R394C	ENSP00000256935:R394C	R	+	1	0	DOCK2	169059643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.937000	0.48979	2.884000	0.98904	0.655000	0.94253	CGC		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		22	111	0	0	0	1	0	22	111					T	169127065	C	T	169127065	3	4	388	1	0	0	0	0	1	0	0	0	4687	884	31	1	1230	1	DOCK2	5	169127065	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	19813564	169127065	11788195	22	34914											
SCAND3	114821	broad.mit.edu	37	chr6	28540855	28540855	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagctagttgtgtttgtaggCaaagaggctgaaaaaaagaa	13	3	0	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:28540855C>G	ENST00000452236.2	-	4	3428	c.2811G>C	c.(2809-2811)ttG>ttC	p.L937F	SCAND3_ENST00000530247.1_5'Flank	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						tgtttgtaggcaaagaggctg	0.318																																						ENST00000452236.2																			0				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						c.(2809-2811)ttG>ttC		SCAN domain containing 3							40	35	37					6																	28540855		2203	4299	6502	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540855C>G																												ENST00000452236.2:c.2811G>C	6.37:g.28540855C>G	ENSP00000395259:p.Leu937Phe						p.L937F	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3428	-			937						Missense_Mutation	SNP	ENST00000452236.2	37	c.2811G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477661	0.26511	.	.	ENSG00000232040	ENST00000452236	T	0.26518	1.73	2.14	-2.86	0.05717	Ribonuclease H-like (1);	0.130812	0.31847	N	0.006971	T	0.24967	0.0606	M	0.77616	2.38	0.21652	N	0.999602	D	0.63880	0.993	D	0.79108	0.992	T	0.10706	-1.0618	10	0.66056	D	0.02	.	3.1974	0.06637	0.2:0.4447:0.0:0.3553	.	937	Q6R2W3	SCND3_HUMAN	F	937	ENSP00000395259:L937F	ENSP00000395259:L937F	L	-	3	2	SCAND3	28648834	0.990000	0.36364	0.972000	0.41901	0.901000	0.52897	-0.272000	0.08560	-0.799000	0.04439	-0.985000	0.02557	TTG		0.318	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			6	13	0	0	0	1	0	6	13					G	28540855	C	G	28540855	3	3	388	1	0	0	0	0	1	0	0	0	13876	709	25	4	1170	4	SCAND3	6	28540855	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		28540855	142574212	23	34915											
RPS18	6222	broad.mit.edu	37	chr6	33243984	33243984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctggacaacaagctccGtgaagacctggagcgactga	13	10	1	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:33243984G>A	ENST00000439602.2	+	5	433	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RPS18_ENST00000476222.1_3'UTR|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000474973.1_Missense_Mutation_p.R38H			P62269	RS18_HUMAN	ribosomal protein S18	108					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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AACAAGCTCCGTGAAGACCTG	0.572																																						ENST00000439602.2																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						c.(322-324)cGt>cAt		ribosomal protein S18							41	41	41					6																	33243984		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33243984G>A	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"S ribosomal proteins"	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.323G>A	6.37:g.33243984G>A	ENSP00000393241:p.Arg108His					RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.R38H	p.R108H			P62269	RS18_HUMAN			5	433	+			108					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.323G>A	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.903992	0.92035	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.52	4.52	0.55395	Ribosomal protein S13-like, H2TH (1);	0.105033	0.64402	N	0.000008	T	0.64505	0.2604	M	0.93898	3.47	0.58432	D	0.999999	P	0.41041	0.736	B	0.39119	0.291	T	0.76372	-0.2983	9	0.62326	D	0.03	.	14.8543	0.70323	0.0:0.0:1.0:0.0	.	108	P62269	RS18_HUMAN	H	108;38	.	ENSP00000393241:R108H	R	+	2	0	RPS18	33351962	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.333000	0.90026	2.369000	0.80426	0.567000	0.79289	CGT		0.572	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			3	27	0	0	0	1	0	3	27					A	33243984	G	A	33243984	3	1	388	1	0	0	0	0	1	0	0	0	13628	1145	40	1	341	1	RPS18	6	33243984	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	4703129	33243984	137871083	24	34916											
GJA10	84694	broad.mit.edu	37	chr6	90605138	90605138	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagtagacccttccaaTgggaaaaaggactggtctga	11	8	1	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:90605138T>C	ENST00000369352.1	+	1	951	c.951T>C	c.(949-951)aaT>aaC	p.N317N	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				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)		ACCCTTCCAATGGGAAAAAGG	0.502																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(949-951)aaT>aaC		gap junction protein, alpha 10, 62kDa							71	68	69					6																	90605138		2203	4300	6503	SO:0001819	synonymous_variant	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605138T>C	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.951T>C	6.37:g.90605138T>C							p.N317N	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	951	+		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)	317					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	c.951T>C	CCDS5025.1																																																																																				0.502	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		11	26	0	0	0	1	0	11	26					C	90605138	T	C	90605138	2	2	388	1	0	0	0	0	0	0	0	1	6401	1461	51	3		3	GJA10	6	90605138	Silent	SNP	T	TCGA-QH-A6CX-01A-11D-A32B-08	57361154	90605138	80509929	25	34917											
ROS1	6098	broad.mit.edu	37	chr6	117704649	117704649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaatgtctgtgtgtcccGtcaacacagactgcctttgt	8	11	2	1	rs149313880		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:117704649G>A	ENST00000368508.3	-	16	2525	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	776					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)		TGTGTGTCCCGTCAACACAGA	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								G|||	1	0.000199681	0.0	0.0014	5008	,	,		20522	0.0		0.0	False		,,,				2504	0.0					ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(2326-2328)aCg>aTg		c-ros oncogene 1 , receptor tyrosine kinase		G	MET/THR	0,4406		0,0,2203	184	165	172		2327	4.6	1	6	dbSNP_134	172	3,8597	3.7+/-12.6	0,3,4297	yes	missense	ROS1	NM_002944.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	776/2348	117704649	3,13003	2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704649G>A	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.2327C>T	6.37:g.117704649G>A	ENSP00000357494:p.Thr776Met					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	p.T776M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2525	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	776					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2327C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823333	0.50739	0.0	3.49E-4	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.92446	-3.04;-3.04	4.57	4.57	0.56435	.	0.225037	0.31082	N	0.008287	D	0.89012	0.6594	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91342	0.5098	10	0.72032	D	0.01	.	11.5121	0.50498	0.0:0.197:0.803:0.0	.	776	P08922	ROS1_HUMAN	M	776;771	ENSP00000357494:T776M;ENSP00000357493:T771M	ENSP00000357493:T771M	T	-	2	0	ROS1	117811342	0.987000	0.35691	0.998000	0.56505	0.700000	0.40528	2.963000	0.49184	2.260000	0.74910	0.655000	0.94253	ACG		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			39	87	0	0	0	1	0	39	87					A	117704649	G	A	117704649	3	1	388	1	0	0	0	0	1	0	0	0	13531	1145	40	1	4828	1	ROS1	6	117704649	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	27099511	117704649	53410418	26	34918											
SYNE1	23345	broad.mit.edu	37	chr6	152722323	152722323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgggcacagttcatcaAcgattcttccacttttgtga	7	9	3	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:152722323A>G	ENST00000367255.5	-	47	7580	c.6979T>C	c.(6979-6981)Ttg>Ctg	p.L2327L	RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000448038.1_Silent_p.L2334L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2327					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)		CAGTTCATCAACGATTCTTCC	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(6979-6981)Ttg>Ctg		spectrin repeat containing, nuclear envelope 1							162	137	145					6																	152722323		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152722323A>G	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.6979T>C	6.37:g.152722323A>G		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000448038.1_Silent_p.L2334L	p.L2327L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	47	7580	-		Ovarian(120;0.0955)	2327					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.6979T>C	CCDS5236.2																																																																																				0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	39	0	0	0	1	0	8	39					G	152722323	A	G	152722323	2	3	388	1	0	0	0	0	0	0	0	1	15442	40	2	3		3	SYNE1	6	152722323	Silent	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	35017674	152722323	18392744	27	34919											
BBS9	27241	broad.mit.edu	37	chr7	33644509	33644509	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caatcccagagtcagacctaGaagaaagatcagtagaacaa	8	9	2	6			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:33644509G>C	ENST00000242067.6	+	22	3075	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	852					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCAGACCTAGAAGAAAGATC	0.418									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2554-2556)Gaa>Caa		Bardet-Biedl syndrome 9							92	83	86					7																	33644509		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33644509G>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2554G>C	7.37:g.33644509G>C	ENSP00000242067:p.Glu852Gln					BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q|BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q	p.E852Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		22	3075	+			852					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2554G>C	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052779|3.052779	0.55218|0.55218	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.66995|.	-0.19;-0.24;-0.21;-0.14;-0.23|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.49305|.	D|.	0.000146|.	T|T	0.54919|0.54919	0.1888|0.1888	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.996;0.995;0.996;0.995;0.996|.	D;P;D;P;D|.	0.64321|.	0.924;0.889;0.918;0.889;0.918|.	T|T	0.47623|0.47623	-0.9103|-0.9103	10|5	0.72032|.	D|.	0.01|.	-10.9987|-10.9987	17.7994|17.7994	0.88581|0.88581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	852;812;847;817;852|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	Q|T	852;812;817;847;817;852|418	ENSP00000242067:E852Q;ENSP00000313122:E812Q;ENSP00000379433:E817Q;ENSP00000347182:E847Q;ENSP00000346214:E817Q|.	ENSP00000242067:E852Q|.	E|R	+|+	1|2	0|0	BBS9|BBS9	33611034|33611034	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.144000|0.144000	0.21451|0.21451	5.777000|5.777000	0.68931|0.68931	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.418	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			3	26	0	0	0	1	0	3	26					C	33644509	G	C	33644509	3	2	388	1	0	0	0	0	1	0	0	0	1342	943	33	4	2636	4	BBS9	7	33644509	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		33644509	125494154	28	34920											
EGFR	1956	broad.mit.edu	37	chr7	55223604	55223604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggaggaagacggcgtccGcaagtgtaagaagtgcgaag	17	6	0	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:55223604G>T	ENST00000275493.2	+	8	1148	c.971G>T	c.(970-972)cGc>cTc	p.R324L	EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	324					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)	p.R324L(2)		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)	GACGGCGTCCGCAAGTGTAAG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		2	Substitution - Missense(2)	p.R324L(2)	central_nervous_system(2)	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						c.(970-972)cGc>cTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						46	43	44					7																	55223604		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223604G>T		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.971G>T	7.37:g.55223604G>T	ENSP00000275493:p.Arg324Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L	p.R324L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		8	1148	+	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)		324					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.971G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283415	0.80803	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.64	4.76	0.60689	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.050411	0.85682	D	0.000000	D	0.87317	0.6147	M	0.67953	2.075	0.47659	D	0.999489	B;P;D;P;P	0.60575	0.107;0.829;0.988;0.817;0.525	B;P;P;P;B	0.56563	0.021;0.615;0.801;0.481;0.285	D	0.88482	0.3069	10	0.87932	D	0	.	13.0565	0.58984	0.0778:0.0:0.9222:0.0	.	279;324;324;324;324	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	L	279;324;194;324;324;324;324;271;118	ENSP00000415559:R279L;ENSP00000342376:R324L;ENSP00000345973:R324L;ENSP00000413843:R324L;ENSP00000275493:R324L;ENSP00000410031:R324L;ENSP00000395243:R271L	ENSP00000275493:R324L	R	+	2	0	EGFR	55191098	1.000000	0.71417	0.997000	0.53966	0.342000	0.28953	4.954000	0.63631	1.386000	0.46466	0.655000	0.94253	CGC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		207	32	1	0	1.69987e-119	1	1.8544e-119	207	32					T	55223604	G	T	55223604	3	4	388	1	0	0	0	0	1	0	0	0	4967	1087	38	4	1001	4	EGFR	7	55223604	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	21579095	55223604	103915059	29	34921											
STEAP1	26872	broad.mit.edu	37	chr7	89791296	89791296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagatttatgtgtctctGggaattgtgggattggcaat	14	3	1	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:89791296G>A	ENST00000297205.2	+	4	866	c.666G>A	c.(664-666)ctG>ctA	p.L222L	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	222	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATGTGTCTCTGGGAATTGTGG	0.393																																						ENST00000297205.2																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(664-666)ctG>ctA		six transmembrane epithelial antigen of the prostate 1							216	191	199					7																	89791296		2203	4300	6503	SO:0001819	synonymous_variant	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89791296G>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.666G>A	7.37:g.89791296G>A						STEAP2-AS1_ENST00000478318.2_RNA	p.L222L	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN			4	866	+	all_hematologic(106;0.112)		222			Ferric oxidoreductase.		A4D1E0|O95034	Silent	SNP	ENST00000297205.2	37	c.666G>A	CCDS5614.1																																																																																				0.393	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		33	154	0	0	0	1	0	33	154					A	89791296	G	A	89791296	2	1	388	1	0	0	0	0	0	0	0	1	15276	1335	47	2		2	STEAP1	7	89791296	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	34567692	89791296	69347367	30	34922											
EFCAB1	79645	broad.mit.edu	37	chr8	49644012	49644012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgcctctctactcctcCcaccaagtcataaaaaagct	3	16	2	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr8:49644012C>T	ENST00000262103.3	-	2	189	c.109G>A	c.(109-111)Gga>Aga	p.G37R	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	37							calcium ion binding (GO:0005509)	p.G37*(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTACTCCTCCCACCAAGTCA	0.338																																						ENST00000262103.3																			1	Substitution - Nonsense(1)	p.G37*(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(109-111)Gga>Aga		EF-hand calcium binding domain 1							95	88	91					8																	49644012		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49644012C>T		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.109G>A	8.37:g.49644012C>T	ENSP00000262103:p.Gly37Arg					EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	p.G37R	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN			2	189	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	37					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.109G>A	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225474	0.39300	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.69561	-0.41	4.77	4.77	0.60923	EF-hand-like domain (1);	0.215542	0.47852	D	0.000205	T	0.66577	0.2803	M	0.74258	2.255	0.58432	D	0.999998	B	0.31910	0.346	B	0.30316	0.114	T	0.68815	-0.5309	10	0.45353	T	0.12	.	15.6716	0.77283	0.0:1.0:0.0:0.0	.	37	Q9HAE3	EFCB1_HUMAN	R	37	ENSP00000262103:G37R	ENSP00000262103:G37R	G	-	1	0	EFCAB1	49806565	0.991000	0.36638	1.000000	0.80357	0.219000	0.24729	2.344000	0.44010	2.629000	0.89072	0.650000	0.86243	GGA		0.338	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		5	51	0	0	0	1	0	5	51					T	49644012	C	T	49644012	3	4	388	1	0	0	0	0	1	0	0	0	4933	632	22	2	546	2	EFCAB1	8	49644012	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		49644012	96720010	31	34923											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	3	10	1	1	rs121909231		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(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)		CAAAGCCAACCGATACTTTTC	0.333		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(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	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		phosphatase and tensin homolog							60	63	62					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	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.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.R335*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	8	2360	+		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)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		9	56	0	0	0	1	0	9	56					T	89720852	C	T	89720852	4	4	388	1	0	0	0	0	0	1	0	0	12738	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		89720852	45813895	32	34924											
TH	7054	broad.mit.edu	37	chr11	2192950	2192950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcctctgcctgcttggCgtccagctcagacacggccc	12	16	2	1	rs201081519		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:2192950C>T	ENST00000381178.1	-	1	85	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	TH_ENST00000333684.5_Missense_Mutation_p.A23T|MIR4686_ENST00000584128.1_RNA|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000352909.3_Missense_Mutation_p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	23					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)	GCCTGCTTGGCGTCCAGCTCA	0.697																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(67-69)Gcc>Acc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)		THR/ALA,THR/ALA,THR/ALA	2,4402	4.2+/-10.8	0,2,2200	70	62	65		67,67,67	1.4	1	11		65	0,8598		0,0,4299	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	58,58,58	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	23/498,23/529,23/525	2192950	2,13000	2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2192950C>T	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.67G>A	11.37:g.2192950C>T	ENSP00000370571:p.Ala23Thr					TH_ENST00000352909.3_Missense_Mutation_p.A23T|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000333684.5_Missense_Mutation_p.A23T	p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	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)	1	85	-		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)	23					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.67G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247129	0.80024	4.54E-4	0.0	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99527	-6.02;-6.02;-6.09;-5.7	3.87	1.4	0.22301	Tyrosine hydroxylase, conserved site (1);	0.703054	0.13153	N	0.409711	D	0.96713	0.8927	L	0.27053	0.805	0.21105	N	0.999789	B;B;B;B;B;B	0.17268	0.012;0.008;0.008;0.021;0.017;0.008	B;B;B;B;B;B	0.12837	0.006;0.002;0.002;0.004;0.008;0.004	D	0.93830	0.7127	10	0.46703	T	0.11	-10.3206	1.9507	0.03366	0.2867:0.4543:0.1408:0.1182	.	23;23;23;23;23;23	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	T	23	ENSP00000370571:A23T;ENSP00000370567:A23T;ENSP00000325951:A23T;ENSP00000328814:A23T	ENSP00000325831:A23T	A	-	1	0	TH	2149526	.	.	1.000000	0.80357	0.966000	0.64601	.	.	0.728000	0.32382	0.550000	0.68814	GCC		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		3	44	0	0	0	1	0	3	44					T	2192950	C	T	2192950	3	4	388	1	0	0	0	0	1	0	0	0	15835	768	27	1	1575	1	TH	11	2192950	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		2192950	132813566	33	34925											
UBE2L6	9246	broad.mit.edu	37	chr11	57322047	57322047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaacggatactccggcGggaagctgatgcgcaggttg	16	9	0	2	rs372087046		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:57322047G>A	ENST00000287156.4	-	3	368	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	58					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						ATACTCCGGCGGGAAGCTGAT	0.542																																						ENST00000287156.4																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(172-174)cCg>cTg		ubiquitin-conjugating enzyme E2L 6		G	LEU/PRO,	0,4402		0,0,2201	155	146	149		173,	6.1	1	11		149	1,8591	1.2+/-3.3	0,1,4295	no	missense,utr-5	UBE2L6	NM_004223.4,NM_198183.2	98,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	58/154,	57322047	1,12993	2201	4296	6497	SO:0001583	missense	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57322047G>A	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.173C>T	11.37:g.57322047G>A	ENSP00000287156:p.Pro58Leu					UBE2L6_ENST00000340573.4_5'UTR	p.P58L	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN			3	368	-			58					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	ENST00000287156.4	37	c.173C>T	CCDS7960.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235815	0.79800	0.0	1.16E-4	ENSG00000156587	ENST00000287156;ENST00000526659	T;T	0.78126	-1.15;-1.15	6.06	6.06	0.98353	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.217730	0.32416	N	0.006140	D	0.91958	0.7453	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93213	0.6602	10	0.87932	D	0	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	58	O14933	UB2L6_HUMAN	L	58;65	ENSP00000287156:P58L;ENSP00000434348:P65L	ENSP00000287156:P58L	P	-	2	0	UBE2L6	57078623	1.000000	0.71417	0.957000	0.39632	0.127000	0.20565	9.776000	0.99001	2.882000	0.98803	0.655000	0.94253	CCG		0.542	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		25	96	0	0	0	1	0	25	96					A	57322047	G	A	57322047	3	1	388	1	0	0	0	0	1	0	0	0	16861	1116	39	1	296	1	UBE2L6	11	57322047	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	55129097	57322047	77684469	34	34926											
MS4A5	64232	broad.mit.edu	37	chr11	60197174	60197174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcaccgcacacagtccGgtgtttctggtatttcctcc	8	14	2	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:60197174G>A	ENST00000300190.2	+	1	113	c.27G>A	c.(25-27)ccG>ccA	p.P9P	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	9						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACACAGTCCGGTGTTTCTGG	0.423																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(25-27)ccG>ccA		membrane-spanning 4-domains, subfamily A, member 5							117	117	117					11																	60197174		2203	4300	6503	SO:0001819	synonymous_variant	64232					integral to membrane	receptor activity	g.chr11:60197174G>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.27G>A	11.37:g.60197174G>A						MS4A5_ENST00000534071.1_3'UTR	p.P9P	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			1	113	+			9					Q9BZH1	Silent	SNP	ENST00000300190.2	37	c.27G>A	CCDS7987.1																																																																																				0.423	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			10	100	0	0	0	1	0	10	100					A	60197174	G	A	60197174	2	1	388	1	0	0	0	0	0	0	0	1	9863	1103	39	1		1	MS4A5	11	60197174	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	2875127	60197174	74809342	35	34927											
C11orf63	79864	broad.mit.edu	37	chr11	122817281	122817281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacccagataatggagcaGcatcagcaagccttggtgca	10	12	2	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:122817281G>A	ENST00000531316.1	+	5	1802	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	C11orf63_ENST00000227349.2_Silent_p.Q570Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	570					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAATGGAGCAGCATCAGCAAG	0.483																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1708-1710)caG>caA		chromosome 11 open reading frame 63							72	68	69					11																	122817281		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122817281G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1710G>A	11.37:g.122817281G>A						C11orf63_ENST00000531316.1_Silent_p.Q570Q	p.Q570Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	6	2007	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	570					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.1710G>A	CCDS8438.1																																																																																				0.483	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		12	60	0	0	0	1	0	12	60					A	122817281	G	A	122817281	2	1	388	1	0	0	0	0	0	0	0	1	1654	962	34	2		2	C11orf63	11	122817281	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	62620107	122817281	12189235	36	34928											
RBM19	9904	broad.mit.edu	37	chr12	114374833	114374833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttctggctctgctgggtCcttttccatgggttctgaag	12	9	3	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:114374833C>T	ENST00000545145.2	-	16	2125	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	RBM19_ENST00000392561.3_Missense_Mutation_p.D683N|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	683					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)					TCTGCTGGGTCCTTTTCCATG	0.557																																						ENST00000545145.2																			0				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						c.(2047-2049)Gac>Aac		RNA binding motif protein 19							151	149	149					12																	114374833		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114374833C>T	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.2047G>A	12.37:g.114374833C>T	ENSP00000442053:p.Asp683Asn					RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N|RBM19_ENST00000392561.3_Missense_Mutation_p.D683N	p.D683N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			16	2125	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		683					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2047G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512683	0.27123	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05580	3.42;3.42;3.42	4.8	3.9	0.45041	Nucleotide-binding, alpha-beta plait (1);	0.598760	0.17982	N	0.155490	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34229	-0.9837	10	0.18710	T	0.47	-9.9566	12.5068	0.55986	0.0:0.917:0.0:0.083	.	683	Q9Y4C8	RBM19_HUMAN	N	683	ENSP00000442053:D683N;ENSP00000376344:D683N;ENSP00000261741:D683N	ENSP00000261741:D683N	D	-	1	0	RBM19	112859216	0.005000	0.15991	0.004000	0.12327	0.011000	0.07611	2.064000	0.41432	2.222000	0.72286	0.655000	0.94253	GAC		0.557	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		24	107	0	0	0	1	0	24	107					T	114374833	C	T	114374833	3	4	388	1	0	0	0	0	1	0	0	0	13121	855	30	2	871	2	RBM19	12	114374833	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		114374833	19477062	37	34929											
SLC28A1	9154	broad.mit.edu	37	chr15	85476483	85476483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccaagtttaggagggaGgaaggagtgaaactgaccta	15	5	0	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:85476483G>A	ENST00000286749.3	+	12	1281	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	SLC28A1_ENST00000537624.1_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000394573.1_Silent_p.E397E			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	397					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTAGGAGGGAGGAAGGAGTGA	0.592																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1189-1191)gaG>gaA		solute carrier family 28 (concentrative nucleoside transporter), member 1							116	95	102					15																	85476483		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476483G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1191G>A	15.37:g.85476483G>A						SLC28A1_ENST00000286749.3_Silent_p.E397E|SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000537624.1_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron	p.E397E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1393	+			397					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1191G>A	CCDS10334.1																																																																																				0.592	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			8	57	0	0	0	1	0	8	57					A	85476483	G	A	85476483	2	1	388	1	0	0	0	0	0	0	0	1	14531	991	35	2		2	SLC28A1	15	85476483	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		85476483	17054909	38	34930											
IGF1R	3480	broad.mit.edu	37	chr15	99486176	99486176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgacgcgagatatctAtgagacagactattaccgga	11	7	1	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:99486176A>G	ENST00000268035.6	+	19	4093	c.3482A>G	c.(3481-3483)tAt>tGt	p.Y1161C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)"	CGAGATATCTATGAGACAGAC	0.552																																						ENST00000268035.6																			0				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						c.(3481-3483)tAt>tGt		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						127	118	121					15																	99486176		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99486176A>G	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.3482A>G	15.37:g.99486176A>G	ENSP00000268035:p.Tyr1161Cys					IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	p.Y1161C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	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)		19	4093	+	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)		1161			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3482A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650808	0.87958	.	.	ENSG00000140443	ENST00000268035	D	0.83250	-1.7	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000066	D	0.91040	0.7181	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92165	0.5739	10	0.87932	D	0	.	15.8787	0.79185	1.0:0.0:0.0:0.0	.	1160;1161	C9J5X1;P08069	.;IGF1R_HUMAN	C	1161	ENSP00000268035:Y1161C	ENSP00000268035:Y1161C	Y	+	2	0	IGF1R	97303699	1.000000	0.71417	0.978000	0.43139	0.898000	0.52572	9.307000	0.96226	2.139000	0.66308	0.533000	0.62120	TAT		0.552	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		21	75	0	0	0	1	0	21	75					G	99486176	A	G	99486176	3	3	388	1	0	0	0	0	1	0	0	0	7571	449	16	3	3556	3	IGF1R	15	99486176	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	14009693	99486176	3045216	39	34931											
MLKL	197259	broad.mit.edu	37	chr16	74712848	74712848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagcttctgatttttccGtggagttcaggtgcttctga	11	7	3	3	rs367604583		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:74712848G>A	ENST00000308807.7	-	7	1450	c.987C>T	c.(985-987)caC>caT	p.H329H	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						TGATTTTTCCGTGGAGTTCAG	0.507																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(985-987)caC>caT		mixed lineage kinase domain-like							155	123	134					16																	74712848		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74712848G>A	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.987C>T	16.37:g.74712848G>A						MLKL_ENST00000306247.7_Intron	p.H329H	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			7	1450	-			329			Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.987C>T	CCDS32487.1																																																																																				0.507	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		8	32	0	0	0	1	0	8	32					A	74712848	G	A	74712848	2	1	388	1	0	0	0	0	0	0	0	1	9619	1136	40	1		1	MLKL	16	74712848	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		74712848	15641905	40	34932											
NF1	4763	broad.mit.edu	37	chr17	29556869	29556869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggttttattgactgataCcaatactcaatttgtagaac	6	6	1	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:29556869C>T	ENST00000358273.4	+	22	3250	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	NF1_ENST00000356175.3_Missense_Mutation_p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	956					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.?(4)	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)		TTGACTGATACCAATACTCAA	0.368			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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						c.(2866-2868)aCc>aTc		neurofibromin 1							88	88	88					17																	29556869		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556869C>T		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.2867C>T	17.37:g.29556869C>T	ENSP00000351015:p.Thr956Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T956I	p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	22	3250	+		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)	956					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2867C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	7.566	0.665623	0.14710	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.65916	-0.18;3.28;2.97	5.66	4.67	0.58626	Armadillo-type fold (1);	0.050275	0.85682	D	0.000000	T	0.51890	0.1701	N	0.24115	0.695	0.80722	D	1	B;B;B	0.34290	0.004;0.447;0.002	B;B;B	0.38954	0.004;0.286;0.004	T	0.45673	-0.9245	10	0.20519	T	0.43	.	16.2548	0.82510	0.0:0.8626:0.1374:0.0	.	956;956;956	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	I	956;956;622	ENSP00000351015:T956I;ENSP00000348498:T956I;ENSP00000389907:T622I	ENSP00000348498:T956I	T	+	2	0	NF1	26580995	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	5.793000	0.69060	1.342000	0.45619	0.455000	0.32223	ACC		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		13	73	0	0	0	1	0	13	73					T	29556869	C	T	29556869	3	4	388	1	0	0	0	0	1	0	0	0	10356	507	18	2	3014	2	NF1	17	29556869	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		29556869	51638341	41	34933											
MUC16	94025	broad.mit.edu	37	chr19	9058191	9058191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcacaggaagaggagagGaggggctactgtctagtaat	15	5	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr19:9058191G>A	ENST00000397910.4	-	3	29458	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9754	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)				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						AAGAGGAGAGGAGGGGCTACT	0.473																																						ENST00000397910.4																			0				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						c.(29254-29256)tCc>tTc		mucin 16, cell surface associated							62	59	60					19																	9058191		1946	4148	6094	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058191G>A	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.29255C>T	19.37:g.9058191G>A	ENSP00000381008:p.Ser9752Phe						p.S9752F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29458	-			9754			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29255C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.758	0.324330	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.30182	1.54	2.94	1.88	0.25563	.	.	.	.	.	T	0.22627	0.0546	L	0.29908	0.895	.	.	.	P	0.45126	0.851	B	0.43225	0.412	T	0.25152	-1.0140	8	0.87932	D	0	.	6.1231	0.20164	0.1449:0.0:0.8551:0.0	.	9752	B5ME49	.	F	9752	ENSP00000381008:S9752F	ENSP00000381008:S9752F	S	-	2	0	MUC16	8919191	0.086000	0.21541	0.003000	0.11579	0.034000	0.12701	0.978000	0.29488	0.789000	0.33779	0.650000	0.86243	TCC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	27	0	0	0	1	0	7	27					A	9058191	G	A	9058191	3	1	388	1	0	0	0	0	1	0	0	0	9973	1174	41	2	14596	2	MUC16	19	9058191	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		9058191	50070792	42	34934											
CHAF1B	8208	broad.mit.edu	37	chr21	37785365	37785365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgccaggacccagaccGgtagagggaacccctgccag	12	15	1	2	rs376013076		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:37785365G>A	ENST00000314103.5	+	12	1396	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	415					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GACCCAGACCGGTAGAGGGAA	0.577																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1243-1245)ccG>ccA		chromatin assembly factor 1, subunit B (p60)		G		0,4406		0,0,2203	53	57	56		1245	-10.4	0	21		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHAF1B	NM_005441.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		415/560	37785365	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785365G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1245G>A	21.37:g.37785365G>A							p.P415P	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1396	+			415					Q99548	Silent	SNP	ENST00000314103.5	37	c.1245G>A	CCDS13644.1																																																																																				0.577	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		6	43	0	0	0	1	0	6	43					A	37785365	G	A	37785365	2	1	388	1	0	0	0	0	0	0	0	1	3312	1103	39	1		1	CHAF1B	21	37785365	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		37785365	10344530	43	34935											
C21orf29	54084	broad.mit.edu	37	chr21	45945556	45945556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccggtggttggccaccGccaggaagtgctccccatcc	11	17	0	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:45945556G>A	ENST00000323084.4	-	8	1381	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.A371V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	439					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTTGGCCACCGCCAGGAAGTG	0.607																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1315-1317)gCg>gTg		thrombospondin-type laminin G domain and EAR repeats							110	110	110					21																	45945556		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45945556G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1316C>T	21.37:g.45945556G>A	ENSP00000321987:p.Ala439Val					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A371V|C21orf90_ENST00000465978.1_Intron	p.A439V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			8	1381	-			439						Missense_Mutation	SNP	ENST00000323084.4	37	c.1316C>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172354	0.38315	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.79845	-1.31;-1.31	4.32	2.41	0.29592	.	0.122751	0.56097	N	0.000032	T	0.64918	0.2642	N	0.25825	0.765	0.80722	D	1	B	0.20988	0.05	B	0.27500	0.08	T	0.53858	-0.8379	10	0.05959	T	0.93	-15.7501	10.3705	0.44051	0.1762:0.0:0.8238:0.0	.	439	Q8WU66	TSEAR_HUMAN	V	439;292;371;440	ENSP00000321987:A439V;ENSP00000381012:A371V	ENSP00000321987:A439V	A	-	2	0	TSPEAR	44769984	0.998000	0.40836	0.984000	0.44739	0.986000	0.74619	3.028000	0.49705	0.916000	0.36871	0.491000	0.48974	GCG		0.607	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		20	119	0	0	0	1	0	20	119					A	45945556	G	A	45945556	3	1	388	1	0	0	0	0	1	0	0	0	2124	1087	38	1	713	1	C21orf29	21	45945556	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	8160191	45945556	2184339	44	34936											
SERPIND1	3053	broad.mit.edu	37	chr22	21133990	21133990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcttaacatcctcaaCgccaagttcgctttcaacct	5	15	3	0	rs144089172		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:21133990C>T	ENST00000215727.5	+	2	673	c.390C>T	c.(388-390)aaC>aaT	p.N130N	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					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)	ACATCCTCAACGCCAAGTTCG	0.498																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(388-390)aaC>aaT		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)	C	,	1,4405	2.1+/-5.4	0,1,2202	91	77	82		390,	-9.6	0.2	22	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	130/500,	21133990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133990C>T	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.390C>T	22.37:g.21133990C>T						PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000466162.1_Intron	p.N130N	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	673	+	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)	130					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.390C>T	CCDS13783.1																																																																																				0.498	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		17	63	0	0	0	1	0	17	63					T	21133990	C	T	21133990	2	4	388	1	0	0	0	0	0	0	0	1	14110	535	19	1		1	SERPIND1	22	21133990	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		21133990	30170576	45	34937											
ADRBK2	157	broad.mit.edu	37	chr22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctctgagaaggagatgCggttttatgccactgaaatc	11	7	1	3	rs200558027		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:26083560C>T	ENST00000324198.6	+	11	1075	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GAAGGAGATGCGGTTTTATGC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22176	0.001		0.0	False		,,,				2504	0.0					ENST00000324198.5																			0				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						c.(883-885)Cgg>Tgg		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	184	145	158		883	2.4	1	22		158	0,8600		0,0,4300	no	missense	ADRBK2	NM_005160.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	295/689	26083560	1,13005	2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083560C>T	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.883C>T	22.37:g.26083560C>T	ENSP00000317578:p.Arg295Trp						p.R295W	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			11	1075	+			295			Protein kinase.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.883C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703116	0.68501	2.27E-4	0.0	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.27104	1.69	4.71	2.36	0.29203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144833	0.43919	D	0.000514	T	0.43277	0.1240	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.40098	-0.9581	10	0.72032	D	0.01	-17.4793	10.6595	0.45694	0.5398:0.4602:0.0:0.0	.	295;295	A8K869;P35626	.;ARBK2_HUMAN	W	295	ENSP00000317578:R295W	ENSP00000317578:R295W	R	+	1	2	ADRBK2	24413560	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.942000	0.40243	1.267000	0.44247	0.650000	0.86243	CGG		0.418	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		3	63	0	0	0	1	0	3	63					T	26083560	C	T	26083560	3	4	388	1	0	0	0	0	1	0	0	0	344	759	27	1	925	1	ADRBK2	22	26083560	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	4949570	26083560	25221006	46	34938											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	6	20	0	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				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)	p.T597P(1)		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						ACCCACCACCACCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T597P(1)	prostate(1)	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						c.(1789-1791)Acc>Ccc		proteoglycan 4							87	83	85					1																	186276640		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276640A>C	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.1789A>C	1.37:g.186276640A>C	ENSP00000399679:p.Thr597Pro					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P	p.T597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1834	+			597			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1789A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	A	1.907	-0.451678	0.04572	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04360	3.64;3.75;3.64;3.73	2.4	-2.78	0.05859	.	0.762931	0.10621	N	0.653340	T	0.01189	0.0039	N	0.00465	-1.465	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47736	-0.9094	9	.	.	.	.	7.4224	0.27079	0.6922:0.2055:0.0:0.1023	.	463;504;597;556	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	554;463;556;504;597	ENSP00000356456:T554P;ENSP00000356453:T556P;ENSP00000356455:T504P;ENSP00000399679:T597P	.	T	+	1	0	PRG4	184543263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-1.097000	0.03042	-4.201000	0.00009	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	81	0	0	0	1	0	6	81					C	186276640	A	C	186276640	3	2	389	1	0	0	0	0	1	0	0	0	12481	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08		186276640	62973981	1	34939											
LYST	1130	broad.mit.edu	37	chr1	235929502	235929502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatctggaggagatccaaGgacttctgctataattttca	8	8	3	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr1:235929502G>A	ENST00000389794.3	-	21	6172	c.5998C>T	c.(5998-6000)Ctt>Ttt	p.L2000F	LYST_ENST00000389793.2_Missense_Mutation_p.L2000F|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2000					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)			GGAGATCCAAGGACTTCTGCT	0.378																																						ENST00000389794.3																			0				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						c.(5998-6000)Ctt>Ttt		lysosomal trafficking regulator							156	171	166					1																	235929502		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235929502G>A	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.5998C>T	1.37:g.235929502G>A	ENSP00000374444:p.Leu2000Phe					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L2000F	p.L2000F			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		21	6172	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2000					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5998C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544056	0.86022	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	.	0.220699	0.42053	D	0.000779	T	0.78477	0.4289	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.79852	-0.1628	10	0.72032	D	0.01	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	2000	Q99698	LYST_HUMAN	F	2000	ENSP00000374444:L2000F;ENSP00000374443:L2000F	ENSP00000374443:L2000F	L	-	1	0	LYST	233996125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.334000	0.79224	2.669000	0.90835	0.585000	0.79938	CTT		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			111	236	0	0	0	1	0	111	236					A	235929502	G	A	235929502	3	1	389	1	0	0	0	0	1	0	0	0	9128	1000	35	2	5539	2	LYST	1	235929502	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	49652862	235929502	13321119	2	34940											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			37	52	0	0	0	1	0	37	52					T	209113112	C	T	209113112	3	4	389	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		209113112	34086261	3	34941											
STAG1	10274	broad.mit.edu	37	chr3	136240172	136240172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgctatactgacactgtcGaatcaggactccaataaatt	6	9	1	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr3:136240172G>A	ENST00000383202.2	-	7	815	c.559C>T	c.(559-561)Cga>Tga	p.R187*	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Nonsense_Mutation_p.R187*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R187*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	187					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R187*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGACACTGTCGAATCAGGACT	0.398																																						ENST00000383202.2																			1	Substitution - Nonsense(1)	p.R187*(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(559-561)Cga>Tga		stromal antigen 1							103	99	100					3																	136240172		2203	4300	6503	SO:0001587	stop_gained	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136240172G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.559C>T	3.37:g.136240172G>A	ENSP00000372689:p.Arg187*					STAG1_ENST00000236698.5_Nonsense_Mutation_p.R187*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R187*|STAG1_ENST00000434713.2_5'UTR	p.R187*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			7	815	-			187					O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	c.559C>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	38	6.682511	0.97759	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0024	0.97423	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000236698:R187X	R	-	1	2	STAG1	137722862	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.722000	0.93159	0.467000	0.42956	CGA		0.398	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		4	196	0	0	0	1	0	4	196					A	136240172	G	A	136240172	4	1	389	1	0	0	0	0	0	1	0	0	15241	1066	37	1	3329	1	STAG1	3	136240172	Nonsense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		136240172	61782258	4	34942											
ABCF3	55324	broad.mit.edu	37	chr3	183908941	183908941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttgagaagttctcgccGccaattctgcagctagatga	12	9	2	3	rs182234232	byFrequency	TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.P483P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489					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)			AGTTCTCGCCGCCAATTCTGC	0.567													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0					ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1465-1467)ccG>ccA		ATP-binding cassette, sub-family F (GCN20), member 3		G		1,4405	4.2+/-10.8	0,1,2202	154	146	149		1467	-5.9	0.7	3		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCF3	NM_018358.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		489/710	183908941	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183908941G>A	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.1467G>A	3.37:g.183908941G>A						ABCF3_ENST00000292808.5_Silent_p.P483P|EIF2B5_ENST00000444495.1_Intron	p.P489P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1652	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		489					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.1467G>A	CCDS3254.1																																																																																				0.567	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		5	180	0	0	0	1	0	5	180					A	183908941	G	A	183908941	2	1	389	1	0	0	0	0	0	0	0	1	67	1074	38	1		1	ABCF3	3	183908941	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	47668769	183908941	14113489	5	34943											
ABLIM2	84448	broad.mit.edu	37	chr4	8055951	8055951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctggctgcttgtcgacaCgccggatgccagatggagga	15	10	1	1	rs371704121		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:8055951C>T	ENST00000341937.5	-	8	850	c.786G>A	c.(784-786)gcG>gcA	p.A262A	ABLIM2_ENST00000318888.4_Silent_p.A19A|ABLIM2_ENST00000546334.1_Silent_p.A262A|ABLIM2_ENST00000505872.1_Silent_p.A262A|ABLIM2_ENST00000428004.2_Silent_p.A262A|ABLIM2_ENST00000545242.1_Silent_p.A262A|ABLIM2_ENST00000296372.8_Silent_p.A262A|ABLIM2_ENST00000407564.3_Silent_p.A262A|ABLIM2_ENST00000361737.5_Silent_p.A262A|ABLIM2_ENST00000447017.2_Silent_p.A262A|ABLIM2_ENST00000361581.5_Silent_p.A262A|ABLIM2_ENST00000514025.1_Silent_p.A19A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	262	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGTCGACACGCCGGATGCC	0.502																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(55-57)gcG>gcA		actin binding LIM protein family, member 2							99	104	102					4																	8055951		2012	4192	6204	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8055951C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.786G>A	4.37:g.8055951C>T						ABLIM2_ENST00000447017.2_Silent_p.A262A|ABLIM2_ENST00000428004.2_Silent_p.A262A|ABLIM2_ENST00000407564.3_Silent_p.A262A|ABLIM2_ENST00000361581.5_Silent_p.A262A|ABLIM2_ENST00000514025.1_Silent_p.A19A|ABLIM2_ENST00000361737.5_Silent_p.A262A|ABLIM2_ENST00000296372.8_Silent_p.A262A|ABLIM2_ENST00000545242.1_Silent_p.A262A|ABLIM2_ENST00000341937.5_Silent_p.A262A|ABLIM2_ENST00000546334.1_Silent_p.A262A|ABLIM2_ENST00000505872.1_Silent_p.A262A	p.A19A			Q6H8Q1	ABLM2_HUMAN			8	928	-			262					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.57G>A	CCDS47013.1																																																																																				0.502	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		15	46	0	0	0	1	0	15	46					T	8055951	C	T	8055951	2	4	389	1	0	0	0	0	0	0	0	1	95	523	19	1		1	ABLIM2	4	8055951	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		8055951	183098325	6	34944											
GPR125	166647	broad.mit.edu	37	chr4	22390725	22390725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactagggtgcgtttggCcgactgccgtaattcttaat	10	10	2	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.R903R(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2707-2709)cgG>cgA		G protein-coupled receptor 125							206	217	213					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_ENST00000282943.5_5'UTR	p.R903R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2978	-		Breast(46;0.198)	903					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	384	0	0	0	1	0	5	384					T	22390725	C	T	22390725	2	4	389	1	0	0	0	0	0	0	0	1	6639	726	26	2		2	GPR125	4	22390725	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	14334774	22390725	168763551	7	34945											
ANKRD17	26057	broad.mit.edu	37	chr4	73957008	73957008	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttcctgagaaacagatcCcggaggttgttgctgattag	13	7	0	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:73957008C>A	ENST00000358602.4	-	29	6453	c.6337G>T	c.(6337-6339)Gga>Tga	p.G2113*	ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.G1862*|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.G2000*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2113					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAACAGATCCCGGAGGTTGT	0.483																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(6337-6339)Gga>Tga		ankyrin repeat domain 17							158	161	160					4																	73957008		2203	4300	6503	SO:0001587	stop_gained	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957008C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6337G>T	4.37:g.73957008C>A	ENSP00000351416:p.Gly2113*					ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.G2000*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.G1862*	p.G2113*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6453	-	Breast(15;0.000295)		2113					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	ENST00000358602.4	37	c.6337G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	45	11.705230	0.99593	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	.	.	.	4.97	4.97	0.65823	.	0.194484	0.35970	N	0.002862	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	9.177	0.37118	0.0:0.8405:0.0:0.1595	.	.	.	.	X	2113;1520;1862;2000;497	.	ENSP00000332265:G1862X	G	-	1	0	ANKRD17	74175872	0.708000	0.27876	1.000000	0.80357	0.980000	0.70556	2.676000	0.46883	2.588000	0.87417	0.650000	0.86243	GGA		0.483	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		15	182	1	0	3.27435e-08	1	3.48335e-08	15	182					A	73957008	C	A	73957008	4	1	389	1	0	0	0	0	0	1	0	0	646	632	22	4	1498	4	ANKRD17	4	73957008	Nonsense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	51566283	73957008	117197268	8	34946											
PTPN13	5783	broad.mit.edu	37	chr4	87696669	87696669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattaatccaaggtccgtcGcagccattgagggtaatctc	9	10	1	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:87696669G>A	ENST00000411767.2	+	35	5818	c.5755G>A	c.(5755-5757)Gca>Aca	p.A1919T	PTPN13_ENST00000316707.6_Missense_Mutation_p.A1728T|PTPN13_ENST00000436978.1_Missense_Mutation_p.A1924T|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1900T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1924T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1919	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		AAGGTCCGTCGCAGCCATTGA	0.383																																						ENST00000436978.1																			0				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						c.(5770-5772)Gca>Aca		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							85	86	86					4																	87696669		2129	4258	6387	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87696669G>A		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.5755G>A	4.37:g.87696669G>A	ENSP00000407249:p.Ala1919Thr					PTPN13_ENST00000427191.2_Missense_Mutation_p.A1900T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1728T|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1919T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1924T	p.A1924T	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	35	6250	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1919			PDZ 5.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5770G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227751	0.79576	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.45	5.45	0.79879	PDZ/DHR/GLGF (4);	0.000000	0.48767	D	0.000179	D	0.85234	0.5650	M	0.93638	3.44	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;0.999;1.0;0.999	D	0.88914	0.3361	10	0.87932	D	0	.	19.2786	0.94042	0.0:0.0:1.0:0.0	.	1728;1900;1919;1924	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	1900;1924;1728;1919;1924;1868	ENSP00000408368:A1900T;ENSP00000394794:A1924T;ENSP00000322675:A1728T;ENSP00000407249:A1919T;ENSP00000426626:A1924T	ENSP00000322675:A1728T	A	+	1	0	PTPN13	87915693	1.000000	0.71417	0.810000	0.32431	0.271000	0.26615	8.930000	0.92872	2.552000	0.86080	0.460000	0.39030	GCA		0.383	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	31	0	0	0	1	0	6	31					A	87696669	G	A	87696669	3	1	389	1	0	0	0	0	1	0	0	0	12782	1087	38	1	5904	1	PTPN13	4	87696669	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	13739661	87696669	103457607	9	34947											
C4orf37	285555	broad.mit.edu	37	chr4	98902451	98902451	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagccggggtgattgAtttcataggtaaaaatctct	12	7	2	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:98902451A>T	ENST00000295268.3	-	6	720	c.631T>A	c.(631-633)Tca>Aca	p.S211T		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	211																	GGGGTGATTGATTTCATAGGT	0.363																																						ENST00000295268.3																			0											c.(631-633)Tca>Aca		sperm-tail PG-rich repeat containing 2							83	84	84					4																	98902451		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98902451A>T	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.631T>A	4.37:g.98902451A>T	ENSP00000295268:p.Ser211Thr						p.S211T	NM_174952.2	NP_777612.1					6	720	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.631T>A	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618232	0.46736	.	.	ENSG00000163116	ENST00000295268	T	0.12361	2.69	5.47	5.47	0.80525	.	0.192915	0.36591	N	0.002509	T	0.35248	0.0925	M	0.68317	2.08	0.31250	N	0.694152	D	0.76494	0.999	D	0.78314	0.991	T	0.36625	-0.9740	10	0.48119	T	0.1	-16.2935	14.5303	0.67920	1.0:0.0:0.0:0.0	.	211	Q8N412	CD037_HUMAN	T	211	ENSP00000295268:S211T	ENSP00000295268:S211T	S	-	1	0	C4orf37	99121474	1.000000	0.71417	0.951000	0.38953	0.697000	0.40408	5.813000	0.69201	2.061000	0.61500	0.460000	0.39030	TCA		0.363	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		34	88	0	0	0	1	0	34	88					T	98902451	A	T	98902451	3	4	389	1	0	0	0	0	1	0	0	0	2267	333	12	5	772	5	C4orf37	4	98902451	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08	11205782	98902451	92251825	10	34948											
OCLN	100506658	broad.mit.edu	37	chr5	68849441	68849441	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aatcattgcaagcagttaaaGagcaaattgtcacacatcaa	6	8	3	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr5:68849441G>C	ENST00000355237.2	+	9	1948	c.1512G>C	c.(1510-1512)aaG>aaC	p.K504N	OCLN_ENST00000396442.2_Missense_Mutation_p.K504N|OCLN_ENST00000538151.1_Missense_Mutation_p.K253N|OCLN_ENST00000542132.1_Missense_Mutation_p.K182N|OCLN_ENST00000380766.2_Missense_Mutation_p.K450N|OCLN_ENST00000514370.1_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	504					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGCAGTTAAAGAGCAAATTGT	0.348																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(1510-1512)aaG>aaC		occludin							131	138	135					5																	68849441		2203	4298	6501	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68849441G>C	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1512G>C	5.37:g.68849441G>C	ENSP00000347379:p.Lys504Asn					OCLN_ENST00000538151.1_Missense_Mutation_p.K253N|OCLN_ENST00000396442.2_Missense_Mutation_p.K504N|OCLN_ENST00000380766.2_Missense_Mutation_p.K450N|OCLN_ENST00000542132.1_Missense_Mutation_p.K182N|OCLN_ENST00000514370.1_3'UTR	p.K504N	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	9	1948	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	504					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.1512G>C	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549059	0.65311	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766;ENST00000538151;ENST00000542132	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.6	4.54	0.55810	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.138190	0.64402	D	0.000008	T	0.52500	0.1738	M	0.79693	2.465	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	T	0.56721	-0.7932	10	0.66056	D	0.02	-2.827	14.371	0.66840	0.0857:0.0:0.9143:0.0	.	504	Q16625	OCLN_HUMAN	N	504;504;450;253;182	ENSP00000347379:K504N;ENSP00000379719:K504N;ENSP00000370143:K450N;ENSP00000445940:K253N;ENSP00000440000:K182N	ENSP00000347379:K504N	K	+	3	2	OCLN	68885197	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.649000	0.46656	2.653000	0.90120	0.552000	0.68991	AAG		0.348	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		5	72	0	0	0	1	0	5	72					C	68849441	G	C	68849441	3	2	389	1	0	0	0	0	1	0	0	0	10820	933	33	4	1542	4	OCLN	5	68849441	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		68849441	112065819	11	34949											
IQGAP2	10788	broad.mit.edu	37	chr5	75967776	75967776	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggtgtacaaggcttgggtGaaccaactagaaacacagac	12	8	0	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr5:75967776G>T	ENST00000274364.6	+	24	3333	c.3036G>T	c.(3034-3036)gtG>gtT	p.V1012V	IQGAP2_ENST00000396234.3_Silent_p.V508V|IQGAP2_ENST00000502745.1_Silent_p.V508V|IQGAP2_ENST00000379730.3_Silent_p.V514V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1012	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)		AGGCTTGGGTGAACCAACTAG	0.433																																						ENST00000274364.6																			0				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						c.(3034-3036)gtG>gtT		IQ motif containing GTPase activating protein 2							48	51	50					5																	75967776		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75967776G>T	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.3036G>T	5.37:g.75967776G>T						IQGAP2_ENST00000502745.1_Silent_p.V508V|IQGAP2_ENST00000379730.3_Silent_p.V514V|IQGAP2_ENST00000396234.3_Silent_p.V508V	p.V1012V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	24	3333	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1012			Ras-GAP.		A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3036G>T	CCDS34188.1																																																																																				0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		16	14	1	0	6.94344e-10	1	7.54722e-10	16	14					T	75967776	G	T	75967776	2	4	389	1	0	0	0	0	0	0	0	1	7815	1277	45	4		4	IQGAP2	5	75967776	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	7118335	75967776	104947484	12	34950											
SNAP91	9892	broad.mit.edu	37	chr6	84366496	84366496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaagttaataacaccatcaTtgtagcaagcaaaaagtttg	7	6	1	0	rs372664943		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr6:84366496T>C	ENST00000439399.2	-	7	951	c.635A>G	c.(634-636)aAt>aGt	p.N212S	SNAP91_ENST00000437520.1_Missense_Mutation_p.N212S|SNAP91_ENST00000428679.2_Missense_Mutation_p.N212S|SNAP91_ENST00000369694.2_Missense_Mutation_p.N212S|SNAP91_ENST00000521743.1_Missense_Mutation_p.N212S|SNAP91_ENST00000520213.1_Missense_Mutation_p.N212S|SNAP91_ENST00000195649.6_Missense_Mutation_p.N212S|SNAP91_ENST00000520302.1_Missense_Mutation_p.N212S|SNAP91_ENST00000521485.1_Missense_Mutation_p.N212S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	212					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)		AACACCATCATTGTAGCAAGC	0.383																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(634-636)aAt>aGt		synaptosomal-associated protein, 91kDa		T	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,3790		0,0,1895	110	103	105		635,635,635,635	5.1	1	6		105	1,8237		0,1,4118	no	missense,missense,missense,missense	SNAP91	NM_001242792.1,NM_001242793.1,NM_001242794.1,NM_014841.2	46,46,46,46	0,1,6013	CC,CT,TT		0.0121,0.0,0.0083	benign,benign,benign,benign	212/908,212/878,212/601,212/908	84366496	1,12027	1895	4119	6014	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84366496T>C	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.635A>G	6.37:g.84366496T>C	ENSP00000400459:p.Asn212Ser					SNAP91_ENST00000437520.1_Missense_Mutation_p.N212S|SNAP91_ENST00000521743.1_Missense_Mutation_p.N212S|SNAP91_ENST00000195649.6_Missense_Mutation_p.N212S|SNAP91_ENST00000521485.1_Missense_Mutation_p.N212S|SNAP91_ENST00000439399.2_Missense_Mutation_p.N212S|SNAP91_ENST00000520302.1_Missense_Mutation_p.N212S|SNAP91_ENST00000369694.2_Missense_Mutation_p.N212S|SNAP91_ENST00000520213.1_Missense_Mutation_p.N212S	p.N212S			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	7	1228	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	212					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.635A>G	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969094	0.74131	0.0	1.21E-4	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931	T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.11	5.11	0.69529	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	H	0.96662	3.86	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.997	D;D;D;D	0.74023	0.974;0.973;0.982;0.973	T	0.77768	-0.2464	10	0.87932	D	0	-13.6453	15.1975	0.73104	0.0:0.0:0.0:1.0	.	212;212;212;212	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	S	212	ENSP00000429776:N212S;ENSP00000358708:N212S;ENSP00000400459:N212S;ENSP00000195649:N212S;ENSP00000412492:N212S;ENSP00000413277:N212S;ENSP00000428511:N212S;ENSP00000428215:N212S;ENSP00000428026:N212S;ENSP00000430071:N212S	ENSP00000195649:N212S	N	-	2	0	SNAP91	84423215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.997000	0.88414	2.056000	0.61249	0.383000	0.25322	AAT		0.383	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			3	22	0	0	0	1	0	3	22					C	84366496	T	C	84366496	3	2	389	1	0	0	0	0	1	0	0	0	14833	1493	52	3	2176	3	SNAP91	6	84366496	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		84366496	86748571	13	34951											
DLC1	10395	broad.mit.edu	37	chr8	13357011	13357011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcattgcaaagctccagGcttttacttatagagtcagt	7	8	2	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr8:13357011G>A	ENST00000276297.4	-	2	979	c.570C>T	c.(568-570)agC>agT	p.S190S	DLC1_ENST00000316609.5_Silent_p.S190S|DLC1_ENST00000511869.1_Silent_p.S190S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	190					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						AAAGCTCCAGGCTTTTACTTA	0.383																																						ENST00000276297.4																			0				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						c.(568-570)agC>agT		deleted in liver cancer 1							120	124	123					8																	13357011		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357011G>A	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.570C>T	8.37:g.13357011G>A						DLC1_ENST00000316609.5_Silent_p.S190S|DLC1_ENST00000511869.1_Silent_p.S190S	p.S190S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	979	-			190					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.570C>T	CCDS5989.1																																																																																				0.383	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		7	281	0	0	0	1	0	7	281					A	13357011	G	A	13357011	2	1	389	1	0	0	0	0	0	0	0	1	4550	1194	42	2		2	DLC1	8	13357011	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		13357011	133007011	14	34952											
CEL	1056	broad.mit.edu	37	chr9	135946995	135946995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactccggggcccccccCgtgacccccacgggtgactc	13	19	0	3	rs374403885	byFrequency	TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr9:135946995C>T	ENST00000372080.4	+	11	2131	c.2115C>T	c.(2113-2115)ccC>ccT	p.P705P	CEL_ENST00000351304.7_Silent_p.P636P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	702	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				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)		GGGCCCCCCCCGTGACCCCCA	0.816													C|||	72	0.014377	0.0053	0.0072	5008	,	,		4342	0.003		0.008	False		,,,				2504	0.0501					ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2113-2115)ccC>ccT		carboxyl ester lipase							2	3	3					9																	135946995		1207	2829	4036	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946995C>T	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.2115C>T	9.37:g.135946995C>T						CEL_ENST00000351304.7_Silent_p.P636P	p.P705P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		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)	11	2131	+			702			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.2115C>T	CCDS43896.1																																																																																				0.816	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			3	8	0	0	0	1	0	3	8					T	135946995	C	T	135946995	2	4	389	1	0	0	0	0	0	0	0	1	3209	639	23	1		1	CEL	9	135946995	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		135946995	5266436	15	34953											
CCDC6	8030	broad.mit.edu	37	chr10	61564190	61564190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcaccaggtgatatagGcctgcttgaactcggagaag	12	9	1	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr10:61564190G>A	ENST00000263102.6	-	7	1324	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGTGATATAGGCCTGCTTGAA	0.458			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1093-1095)Cct>Tct		coiled-coil domain containing 6							168	147	154					10																	61564190		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61564190G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1093C>T	10.37:g.61564190G>A	ENSP00000263102:p.Pro365Ser						p.P365S	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	7	1324	-			365					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1093C>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779971	0.90195	.	.	ENSG00000108091	ENST00000263102	T	0.51817	0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.49350	1.555	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.54077	-0.8347	10	0.18710	T	0.47	-11.4197	19.3389	0.94334	0.0:0.0:1.0:0.0	.	365	Q16204	CCDC6_HUMAN	S	365	ENSP00000263102:P365S	ENSP00000263102:P365S	P	-	1	0	CCDC6	61234196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.859000	0.99545	2.593000	0.87608	0.655000	0.94253	CCT		0.458	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		32	68	0	0	0	1	0	32	68					A	61564190	G	A	61564190	3	1	389	1	0	0	0	0	1	0	0	0	2830	1203	42	2	343	2	CCDC6	10	61564190	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		61564190	73970557	16	34954											
IRF7	3665	broad.mit.edu	37	chr11	615146	615146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttgcgcgcgaagtgcTtccagggcacgcggaaacag	15	12	0	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:615146T>G	ENST00000397574.2	-	3	503	c.134A>C	c.(133-135)aAg>aCg	p.K45T	IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.K45T|IRF7_ENST00000330243.5_Missense_Mutation_p.K58T|IRF7_ENST00000397566.1_Missense_Mutation_p.K58T|IRF7_ENST00000348655.6_Missense_Mutation_p.K45T	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	45					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGAAGTGCTTCCAGGGCAC	0.697																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(172-174)aAg>aCg		interferon regulatory factor 7							10	12	11					11																	615146		2137	4206	6343	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:615146T>G	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.134A>C	11.37:g.615146T>G	ENSP00000380704:p.Lys45Thr					IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000330243.5_Missense_Mutation_p.K58T|IRF7_ENST00000348655.6_Missense_Mutation_p.K45T|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397574.2_Missense_Mutation_p.K45T|IRF7_ENST00000397570.1_Missense_Mutation_p.K45T	p.K58T	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	1	582	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	45					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.173A>C	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001131	0.74818	.	.	ENSG00000185507	ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86	4.43	3.29	0.37713	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.117488	0.56097	D	0.000035	D	0.98488	0.9496	M	0.78637	2.42	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	0.98290	1.0513	10	0.87932	D	0	-36.998	8.0712	0.30691	0.0:0.0944:0.0:0.9056	.	45;45;58	Q92985-2;Q92985;Q92985-4	.;IRF7_HUMAN;.	T	45;45;58;45;58	ENSP00000331803:K45T;ENSP00000380700:K45T;ENSP00000380697:K58T;ENSP00000380704:K45T;ENSP00000329411:K58T	ENSP00000329411:K58T	K	-	2	0	IRF7	605146	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	4.194000	0.58393	0.668000	0.31126	0.402000	0.26972	AAG		0.697	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		6	14	0	0	0	1	0	6	14					G	615146	T	G	615146	3	3	389	1	0	0	0	0	1	0	0	0	7835	1609	56	5	1413	5	IRF7	11	615146	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		615146	134391370	17	34955											
ARFIP2	23647	broad.mit.edu	37	chr11	6501609	6501609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccgttcccgtggatagGgatctccattgtggctgcct	12	12	1	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:6501609G>T	ENST00000254584.2	-	2	126	c.43C>A	c.(43-45)Cct>Act	p.P15T	TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000423813.2_Intron|ARFIP2_ENST00000445086.2_Intron|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.P15T|TIMM10B_ENST00000530751.1_5'Flank|ARFIP2_ENST00000525235.1_Missense_Mutation_p.P15T	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	15					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCGTGGATAGGGATCTCCATT	0.517																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(43-45)Cct>Act		ADP-ribosylation factor interacting protein 2							68	58	61					11																	6501609		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6501609G>T	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.43C>A	11.37:g.6501609G>T	ENSP00000254584:p.Pro15Thr					ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000423813.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.P15T|ARFIP2_ENST00000396777.3_Missense_Mutation_p.P15T	p.P15T	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	126	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	15					B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.43C>A	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114793	0.77210	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000525235	T;T	0.81247	-1.47;-1.47	5.08	5.08	0.68730	.	0.120183	0.64402	D	0.000020	D	0.88020	0.6325	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	D	0.88122	0.2832	10	0.49607	T	0.09	.	16.2472	0.82450	0.0:0.0:1.0:0.0	.	15;15;15	B4DUZ3;E9PPY7;P53365	.;.;ARFP2_HUMAN	T	15	ENSP00000254584:P15T;ENSP00000379998:P15T	ENSP00000254584:P15T	P	-	1	0	ARFIP2	6458185	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.106000	0.89555	2.363000	0.80096	0.561000	0.74099	CCT		0.517	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		13	27	1	0	0.000308642	1	0.000321502	13	27					T	6501609	G	T	6501609	3	4	389	1	0	0	0	0	1	0	0	0	855	1232	43	4	1010	4	ARFIP2	11	6501609	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	5886463	6501609	128504907	18	34956											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	9	6	1	0	rs374191202		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.001					ENST00000314634.3																			3	Substitution - Missense(3)	p.R31H(2)|p.R31L(1)	prostate(2)|lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(91-93)cGt>cAt		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							189	177	181					11																	55339695		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339695G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His						p.R31H	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	92	+		all_epithelial(135;0.0748)	31					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.92G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		59	110	0	0	0	1	0	59	110					A	55339695	G	A	55339695	3	1	389	1	0	0	0	0	1	0	0	0	11049	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	48838086	55339695	79666821	19	34957											
SLC7A1	6541	broad.mit.edu	37	chr13	30091751	30091751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaattagcccagagattTtggaaggctccatgtttttg	9	8	1	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr13:30091751T>C	ENST00000380752.5	-	10	1855	c.1469A>G	c.(1468-1470)aAa>aGa	p.K490R	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	490					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)	CCCAGAGATTTTGGAAGGCTC	0.473																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(1468-1470)aAa>aGa		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						167	165	166					13																	30091751		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091751T>C	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.1469A>G	13.37:g.30091751T>C	ENSP00000370128:p.Lys490Arg					SLC7A1_ENST00000473577.1_5'UTR	p.K490R	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	10	1855	-		Lung SC(185;0.0257)|Breast(139;0.238)	490					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1469A>G	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	T	6.343	0.431411	0.12045	.	.	ENSG00000139514	ENST00000380752	D	0.85955	-2.05	5.13	3.95	0.45737	.	0.614674	0.17151	N	0.185049	T	0.72020	0.3409	L	0.28274	0.84	0.29737	N	0.837388	B	0.02656	0.0	B	0.04013	0.001	T	0.58216	-0.7675	10	0.10377	T	0.69	.	7.6847	0.28534	0.0:0.1637:0.0:0.8363	.	490	P30825	CTR1_HUMAN	R	490	ENSP00000370128:K490R	ENSP00000370128:K490R	K	-	2	0	SLC7A1	28989751	0.801000	0.28930	0.878000	0.34440	0.558000	0.35554	0.518000	0.22847	0.924000	0.37069	0.533000	0.62120	AAA		0.473	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		90	86	0	0	0	1	0	90	86					C	30091751	T	C	30091751	3	2	389	1	0	0	0	0	1	0	0	0	14692	1841	64	3	436	3	SLC7A1	13	30091751	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		30091751	85078127	20	34958											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		7	285						7	285	---	---	---	---	-	21961062	GCT	-	21961060	7	5	389	1	0	1	0	1	0	0	0	0	16377	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-QH-A6CY-01A-11D-A32B-08		21961060	85388480	21	34959											
PARP16	54956	broad.mit.edu	37	chr15	65563325	65563325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgaggataaaatccagCtcaccaggtcccaggcccgt	9	14	1	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr15:65563325C>T	ENST00000261888.6	-	2	705	c.260G>A	c.(259-261)aGc>aAc	p.S87N	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	87	PARP alpha-helical.				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						TAAAATCCAGCTCACCAGGTC	0.532																																					NSCLC(50;885 1163 13509 21242 41978)	ENST00000261888.6																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(259-261)aGc>aAc		poly (ADP-ribose) polymerase family, member 16							202	198	199					15																	65563325		2201	4299	6500	SO:0001583	missense	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65563325C>T	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.260G>A	15.37:g.65563325C>T	ENSP00000261888:p.Ser87Asn					PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	p.S87N	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN			2	705	-			87			PARP catalytic.		Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	37	c.260G>A	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616169	0.46631	.	.	ENSG00000138617	ENST00000261888	T	0.43688	0.94	5.8	4.89	0.63831	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.265975	0.49916	N	0.000134	T	0.32102	0.0818	L	0.34521	1.04	0.80722	D	1	P;P	0.37781	0.608;0.473	B;B	0.36719	0.231;0.116	T	0.05484	-1.0882	10	0.20519	T	0.43	-13.4614	14.0809	0.64922	0.0:0.928:0.0:0.072	.	87;87	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	N	87	ENSP00000261888:S87N	ENSP00000261888:S87N	S	-	2	0	PARP16	63350378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.395000	0.52558	1.461000	0.47929	0.655000	0.94253	AGC		0.532	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851		5	445	0	0	0	1	0	5	445					T	65563325	C	T	65563325	3	4	389	1	0	0	0	0	1	0	0	0	11460	797	28	2	731	2	PARP16	15	65563325	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		65563325	36968067	22	34960											
IRF8	3394	broad.mit.edu	37	chr16	85954816	85954816	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccgccagaccaggtcttCcggatgtttccagatatttg	10	13	1	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr16:85954816C>T	ENST00000268638.5	+	9	1631	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	IRF8_ENST00000562492.1_Silent_p.F199F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	403					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACCAGGTCTTCCGGATGTTTC	0.587																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(1207-1209)ttC>ttT		interferon regulatory factor 8							60	66	64					16																	85954816		2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85954816C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.1209C>T	16.37:g.85954816C>T						IRF8_ENST00000562492.1_Silent_p.F199F	p.F403F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			9	1631	+		Prostate(104;0.0771)	403					A0AV82	Silent	SNP	ENST00000268638.5	37	c.1209C>T	CCDS10956.1																																																																																				0.587	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		6	113	0	0	0	1	0	6	113					T	85954816	C	T	85954816	2	4	389	1	0	0	0	0	0	0	0	1	7836	854	30	2		2	IRF8	16	85954816	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		85954816	4399937	23	34961											
ZNF778	197320	broad.mit.edu	37	chr16	89293578	89293578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctttaggtacactgcCtaccttactggtcgcgtgca	10	12	0	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr16:89293578C>T	ENST00000433976.2	+	6	1130	c.798C>T	c.(796-798)gcC>gcT	p.A266A	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.A224A	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	266					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(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGTACACTGCCTACCTTACTG	0.527																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(796-798)gcC>gcT		zinc finger protein 778							72	72	72					16																	89293578		2060	4208	6268	SO:0001819	synonymous_variant	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89293578C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.798C>T	16.37:g.89293578C>T						RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.A224A	p.A266A	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1130	+			266					Q08AG0	Silent	SNP	ENST00000433976.2	37	c.798C>T	CCDS45550.1																																																																																				0.527	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	85	0	0	0	1	0	4	85					T	89293578	C	T	89293578	2	4	389	1	0	0	0	0	0	0	0	1	18148	668	24	2		2	ZNF778	16	89293578	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	3338762	89293578	1061175	24	34962											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	196						7	196	---	---	---	---	-	17394707	CAG	-	17394705	7	5	389	1	0	1	0	1	0	0	0	0	9454	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-QH-A6CY-01A-11D-A32B-08		17394705	63800505	25	34963											
KRT28	162605	broad.mit.edu	37	chr17	38950240	38950240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgtacagtagttg	13	11	2	1	rs150448547		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:38950240G>A	ENST00000306658.7	-	6	1102	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V		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)				CTGGATCTGCGCCAGCTGCGT	0.577																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1036-1038)gCg>gTg		keratin 28		G	VAL/ALA	0,4406		0,0,2203	132	135	134		1037	5.7	1	17	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT28	NM_181535.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	346/465	38950240	1,13005	2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38950240G>A	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.1037C>T	17.37:g.38950240G>A	ENSP00000305263:p.Ala346Val						p.A346V	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			6	1102	-		Breast(137;0.000301)	346			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1037C>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251696	0.80135	0.0	1.16E-4	ENSG00000173908	ENST00000306658	D	0.88896	-2.44	5.7	5.7	0.88788	Filament (1);	0.103006	0.43260	D	0.000597	D	0.88544	0.6465	M	0.65320	2	0.22737	N	0.998797	P	0.51653	0.947	B	0.43658	0.426	D	0.84850	0.0813	10	0.72032	D	0.01	.	15.618	0.76784	0.0:0.0:0.8622:0.1378	.	346	Q7Z3Y7	K1C28_HUMAN	V	346	ENSP00000305263:A346V	ENSP00000305263:A346V	A	-	2	0	KRT28	36203766	0.000000	0.05858	0.995000	0.50966	0.991000	0.79684	0.689000	0.25437	2.846000	0.97976	0.650000	0.86243	GCG		0.577	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		15	275	0	0	0	1	0	15	275					A	38950240	G	A	38950240	3	1	389	1	0	0	0	0	1	0	0	0	8465	1087	38	1	369	1	KRT28	17	38950240	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	21555535	38950240	42244970	26	34964											
ABCC3	8714	broad.mit.edu	37	chr17	48755185	48755185	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctactcccacttttcggaGacagtgactggtgccagtgt	10	11	1	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:48755185G>A	ENST00000285238.8	+	24	3539	c.3459G>A	c.(3457-3459)gaG>gaA	p.E1153E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1153	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	ACTTTTCGGAGACAGTGACTG	0.547																																						ENST00000285238.8																			0				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						c.(3457-3459)gaG>gaA		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						134	137	136					17																	48755185		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48755185G>A	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.3459G>A	17.37:g.48755185G>A							p.E1153E	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		24	3539	+			1153			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.3459G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024416	0.19433	.	.	ENSG00000108846	ENST00000513745	.	.	.	5.7	4.73	0.59995	.	.	.	.	.	T	0.62744	0.2453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61158	-0.7119	4	.	.	.	-34.7031	11.3055	0.49332	0.1914:0.0:0.8086:0.0	.	.	.	.	N	257	.	.	D	+	1	0	ABCC3	46110184	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.185000	0.50934	1.409000	0.46915	0.655000	0.94253	GAC		0.547	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		6	315	0	0	0	1	0	6	315					A	48755185	G	A	48755185	2	1	389	1	0	0	0	0	0	0	0	1	54	933	33	2		2	ABCC3	17	48755185	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	9804945	48755185	32440025	27	34965											
ITGB4	3691	broad.mit.edu	37	chr17	73725516	73725516	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagacagctgtgtgcaCggtgggcactgggaagggtg	18	9	0	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:73725516C>T	ENST00000200181.3	+	7	924	c.737C>T	c.(736-738)aCg>aTg	p.T246M	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Splice_Site_p.T246M|ITGB4_ENST00000449880.2_Splice_Site_p.T246M|ITGB4_ENST00000339591.3_Splice_Site_p.T246M|ITGB4_ENST00000450894.3_Splice_Site_p.T246M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	246	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)			GCTGTGTGCACGGTGGGCACT	0.637																																						ENST00000200181.3																			0				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						c.e7+1		integrin, beta 4							51	48	49					17																	73725516		2203	4300	6503	SO:0001630	splice_region_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725516C>T		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.738+1C>T	17.37:g.73725516C>T						ITGB4_ENST00000450894.3_Splice_Site_p.T246_splice|ITGB4_ENST00000449880.2_Splice_Site_p.T246_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.T246_splice|ITGB4_ENST00000579662.1_Splice_Site_p.T246_splice	p.T246_splice	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	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)		7	924	+	all_cancers(13;1.5e-07)		246			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	ENST00000200181.3	37	c.738_splice	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388559	0.25118	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92805	-3.11;-3.11;-3.11	5.66	4.64	0.57946	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.286939	0.34750	N	0.003708	D	0.95274	0.8467	M	0.79123	2.44	0.38499	D	0.94817	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	P;P;D;D	0.69479	0.894;0.884;0.93;0.964	D	0.95424	0.8510	10	0.49607	T	0.09	.	13.9078	0.63848	0.2255:0.7745:0.0:0.0	.	246;246;246;246	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	M	162;246;246;246	ENSP00000200181:T246M;ENSP00000344079:T246M;ENSP00000400217:T246M	ENSP00000200181:T246M	T	+	2	0	ITGB4	71237111	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	1.816000	0.38992	2.668000	0.90789	0.655000	0.94253	ACG		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		Missense_Mutation	8	18	0	0	0	1	0	8	18					T	73725516	C	T	73725516	5	4	389	1	0	0	0	0	0	0	1	0	7897	550	19	1	759	1	ITGB4	17	73725516	Splice_Site	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	24970331	73725516	7469694	28	34966											
DSG4	147409	broad.mit.edu	37	chr18	28992950	28992950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaaactttagatccaAaatttaggactcttgctgag	9	7	1	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr18:28992950A>G	ENST00000308128.4	+	16	2650	c.2515A>G	c.(2515-2517)Aaa>Gaa	p.K839E	DSG4_ENST00000359747.4_Missense_Mutation_p.K858E|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	839					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)			TTTAGATCCAAAATTTAGGAC	0.448																																						ENST00000359747.4																			0				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						c.(2572-2574)Aaa>Gaa		desmoglein 4							140	131	134					18																	28992950		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992950A>G	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.2515A>G	18.37:g.28992950A>G	ENSP00000311859:p.Lys839Glu					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.K839E	p.K858E	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2601	+			839					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2572A>G	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141029	0.77775	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.78126	-1.15;-1.15	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.87629	0.6225	M	0.75447	2.3	0.40531	D	0.980936	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88817	0.3296	9	0.54805	T	0.06	.	15.8549	0.78968	1.0:0.0:0.0:0.0	.	858;839	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	E	839;858	ENSP00000311859:K839E;ENSP00000352785:K858E	ENSP00000311859:K839E	K	+	1	0	DSG4	27246948	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.138000	0.77305	2.141000	0.66446	0.528000	0.53228	AAA		0.448	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		8	206	0	0	0	1	0	8	206					G	28992950	A	G	28992950	3	3	389	1	0	0	0	0	1	0	0	0	4779	15	1	3	2698	3	DSG4	18	28992950	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08		28992950	49084298	29	34967											
CIC	23152	broad.mit.edu	37	chr19	42799050	42799050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctgcagttgaagatcCgtgaggtgcgccagaagatc	13	8	1	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr19:42799050C>A	ENST00000575354.2	+	20	4574	c.4534C>A	c.(4534-4536)Cgt>Agt	p.R1512S	CIC_ENST00000160740.3_Missense_Mutation_p.R1510S|CIC_ENST00000572681.2_Missense_Mutation_p.R2418S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					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)				GTTGAAGATCCGTGAGGTGCG	0.632			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7252-7254)Cgt>Agt		capicua transcriptional repressor							52	52	52					19																	42799050		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799050C>A	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.4534C>A	19.37:g.42799050C>A	ENSP00000458663:p.Arg1512Ser					CIC_ENST00000575354.2_Missense_Mutation_p.R1512S|CIC_ENST00000160740.3_Missense_Mutation_p.R1510S	p.R2418S			Q96RK0	CIC_HUMAN			21	7320	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7252C>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330104	0.60743	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.37	0.38596	.	.	.	.	.	T	0.62514	0.2434	L	0.29908	0.895	0.40778	D	0.983142	D	0.65815	0.995	D	0.70227	0.968	T	0.65998	-0.6032	8	0.87932	D	0	-6.0224	11.7222	0.51689	0.1768:0.8232:0.0:0.0	.	1512	Q96RK0	CIC_HUMAN	S	1512	.	ENSP00000160740:R1512S	R	+	1	0	CIC	47490890	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.911000	0.48774	2.513000	0.84729	0.491000	0.48974	CGT		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	42	1	0	2.75727e-19	1	3.06364e-19	32	42					A	42799050	C	A	42799050	3	1	389	1	0	0	0	0	1	0	0	0	3424	652	23	4	4612	4	CIC	19	42799050	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		42799050	16329933	30	34968											
ZFP64	55734	broad.mit.edu	37	chr20	50701174	50701174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctgtcccgaggcaccGctttccggtgggaaggtgac	15	12	0	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr20:50701174G>A	ENST00000361387.2	-	9	1920	c.1860C>T	c.(1858-1860)agC>agT	p.S620S	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.S401S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	465					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGAGGCACCGCTTTCCGGTG	0.597																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1858-1860)agC>agT		ZFP64 zinc finger protein							53	51	52					20																	50701174		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701174G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1860C>T	20.37:g.50701174G>A						ZFP64_ENST00000371523.4_Silent_p.S401S|ZFP64_ENST00000371518.2_Intron	p.S620S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1920	-			465					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1860C>T	CCDS13439.1																																																																																				0.597	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		24	43	0	0	0	1	0	24	43					A	50701174	G	A	50701174	2	1	389	1	0	0	0	0	0	0	0	1	17649	1078	38	1		1	ZFP64	20	50701174	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		50701174	12324346	31	34969											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	58	0	0	0	1	0	4	58					A	150156360	G	A	150156360	2	1	389	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		150156360	5114200	32	34970											
CDKN2C	1031	broad.mit.edu	37	chr1	51436140	51436140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatgtaaacgtcaatgcaCaaaatggatttggaaggact	9	5	1	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:51436140C>T	ENST00000262662.1	+	3	2134	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	34					cell cycle arrest (GO:0007050)|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 phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	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?(11)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGTCAATGCACAAAATGGATT	0.483			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		11	Whole gene deletion(11)	p.0?(11)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(4)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(100-102)Caa>Taa		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							104	106	105					1																	51436140		2203	4300	6503	SO:0001587	stop_gained	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51436140C>T	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.100C>T	1.37:g.51436140C>T	ENSP00000262662:p.Gln34*					CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*	p.Q34*			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	3	2134	+			34					Q8TB83	Nonsense_Mutation	SNP	ENST00000262662.1	37	c.100C>T	CCDS555.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328286	0.97476	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	.	.	.	5.23	4.28	0.50868	.	0.591918	0.18314	N	0.145010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1577	12.9462	0.58373	0.12:0.7505:0.1295:0.0	.	.	.	.	X	34	.	ENSP00000262662:Q34X	Q	+	1	0	CDKN2C	51208728	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.244000	0.32778	2.714000	0.92807	0.655000	0.94253	CAA		0.483	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		6	54	0	0	0	1	0	6	54					T	51436140	C	T	51436140	4	4	390	1	0	0	0	0	0	1	0	0	3165	479	17	2	102	2	CDKN2C	1	51436140	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		51436140	197814481	1	34971											
FUBP1	8880	broad.mit.edu	37	chr1	78428499	78428499	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcatagtctatctgttGtggagtgccacgaattgtaa	11	8	2	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:78428499G>A	ENST00000370768.2	-	14	1381	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.Q434*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	434	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTATCTGTTGTGGAGTGCCA	0.368			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1300-1302)Caa>Taa		far upstream element (FUSE) binding protein 1							115	110	112					1																	78428499		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428499G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1300C>T	1.37:g.78428499G>A	ENSP00000359804:p.Gln434*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q434*	p.Q434*			Q96AE4	FUBP1_HUMAN			14	1387	-			434			KH 4.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.1300C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151586	0.78001	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-4.623	20.09	0.97815	0.0:0.0:1.0:0.0	.	.	.	.	X	433;434;434;433;455	.	ENSP00000294623:Q433X	Q	-	1	0	FUBP1	78201087	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	9.810000	0.99221	2.827000	0.97445	0.650000	0.86243	CAA		0.368	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		5	38	0	0	0	1	0	5	38					A	78428499	G	A	78428499	4	1	390	1	0	0	0	0	0	1	0	0	6092	1386	48	2	662	2	FUBP1	1	78428499	Nonsense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	26992359	78428499	170822122	2	34972											
LAMC2	3918	broad.mit.edu	37	chr1	183201823	183201823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctccagttggccaaggTgaggagccaagagaacagct	14	9	1	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:183201823T>C	ENST00000264144.4	+	14	2116	c.2051T>C	c.(2050-2052)gTg>gCg	p.V684A	LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	684	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						TTGGCCAAGGTGAGGAGCCAA	0.527																																						ENST00000264144.4																			0				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						c.(2050-2052)gTg>gCg		laminin, gamma 2							79	82	81					1																	183201823		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183201823T>C	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.2051T>C	1.37:g.183201823T>C	ENSP00000264144:p.Val684Ala					LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			14	2116	+			684			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2051T>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	T	6.702	0.498176	0.12762	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.18016	2.39;2.24	5.37	-0.709	0.11237	.	0.860675	0.10232	N	0.699568	T	0.04272	0.0118	N	0.00686	-1.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.44937	-0.9295	10	0.11182	T	0.66	.	9.3596	0.38188	0.0:0.3358:0.0:0.6642	.	684;684;684	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	A	684	ENSP00000432063:V684A;ENSP00000264144:V684A	ENSP00000264144:V684A	V	+	2	0	LAMC2	181468446	0.308000	0.24509	0.070000	0.20053	0.564000	0.35744	0.360000	0.20250	-0.162000	0.10964	0.528000	0.53228	GTG		0.527	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		6	67	0	0	0	1	0	6	67					C	183201823	T	C	183201823	3	2	390	1	0	0	0	0	1	0	0	0	8615	1696	59	3	2105	3	LAMC2	1	183201823	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	104773324	183201823	66048798	3	34973											
ZNF638	27332	broad.mit.edu	37	chr2	71655742	71655742	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaaaaagctgttgtgacaGaaccagcaaaaggtgaagag	12	6	0	5			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655742G>C	ENST00000409544.1	+	25	6241	c.5611G>C	c.(5611-5613)Gaa>Caa	p.E1871Q	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q|ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1871					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						TGTTGTGACAGAACCAGCAAA	0.398																																						ENST00000409544.1																			0				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						c.(5611-5613)Gaa>Caa		zinc finger protein 638							119	125	123					2																	71655742		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71655742G>C	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.5611G>C	2.37:g.71655742G>C	ENSP00000386433:p.Glu1871Gln					ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q	p.E1871Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			25	6241	+			1871					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5611G>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172521	0.78452	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.43688	0.94;0.94;1.44	5.41	5.41	0.78517	.	0.000000	0.52532	D	0.000070	T	0.52191	0.1719	L	0.34521	1.04	0.80722	D	1	D;P	0.76494	0.999;0.455	D;B	0.83275	0.996;0.214	T	0.41716	-0.9493	10	0.29301	T	0.29	-17.0366	14.6858	0.69049	0.0:0.0:1.0:0.0	.	1871;1871	Q14966-3;Q14966	.;ZN638_HUMAN	Q	1871;1871;811	ENSP00000264447:E1871Q;ENSP00000386433:E1871Q;ENSP00000386813:E811Q	ENSP00000264447:E1871Q	E	+	1	0	ZNF638	71509250	1.000000	0.71417	0.994000	0.49952	0.925000	0.55904	3.006000	0.49529	2.548000	0.85928	0.491000	0.48974	GAA		0.398	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		58	83	0	0	0	1	0	58	83					C	71655742	G	C	71655742	3	2	390	1	0	0	0	0	1	0	0	0	18052	943	33	4	5705	4	ZNF638	2	71655742	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		71655742	171543631	4	34974			1	40		2	2	38	N	G_A	5.975901e-05
ZNF638	27332	broad.mit.edu	37	chr2	71655779	71655779	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggccttccagatgagtgAaggtaaagcaggattgttgg	15	5	0	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655779A>C	ENST00000409544.1	+	25	6278	c.5648A>C	c.(5647-5649)gAa>gCa	p.E1883A	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A|ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1883					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						CAGATGAGTGAAGGTAAAGCA	0.398																																						ENST00000409544.1																			0				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						c.(5647-5649)gAa>gCa		zinc finger protein 638							89	93	92					2																	71655779		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71655779A>C	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.5648A>C	2.37:g.71655779A>C	ENSP00000386433:p.Glu1883Ala					ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A	p.E1883A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			25	6278	+			1883					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5648A>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450449	0.43531	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.33438	1.41;1.41;1.85	5.41	4.21	0.49690	.	0.120044	0.37955	N	0.001877	T	0.22126	0.0533	L	0.29908	0.895	0.80722	D	1	P;P	0.38767	0.597;0.646	B;B	0.42851	0.4;0.175	T	0.03121	-1.1070	10	0.15952	T	0.53	-17.1958	7.1932	0.25837	0.7506:0.0:0.0:0.2494	.	1883;1883	Q14966-3;Q14966	.;ZN638_HUMAN	A	1883;1883;823	ENSP00000264447:E1883A;ENSP00000386433:E1883A;ENSP00000386813:E823A	ENSP00000264447:E1883A	E	+	2	0	ZNF638	71509287	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.740000	0.26188	2.060000	0.61445	0.402000	0.26972	GAA		0.398	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		40	52	0	0	0	1	0	40	52					C	71655779	A	C	71655779	3	2	390	1	0	0	0	0	1	0	0	0	18052	246	9	5	5742	5	ZNF638	2	71655779	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	37	71655779	171543594	5	34975			1	40		2	2	38	N	G_A	5.975901e-05
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	26	0	0	0	1	0	24	26					T	209113112	C	T	209113112	3	4	390	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	137457333	209113112	34086261	6	34976											
DNAH1	25981	broad.mit.edu	37	chr3	52397073	52397073	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgatcactgagatctccctCtattcctttggctttaatga	6	10	3	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:52397073C>G	ENST00000420323.2	+	32	5418	c.5157C>G	c.(5155-5157)ctC>ctG	p.L1719L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1719	AAA 1. {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)		AGATCTCCCTCTATTCCTTTG	0.537																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5155-5157)ctC>ctG		dynein, axonemal, heavy chain 1							174	175	175					3																	52397073		2088	4234	6322	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52397073C>G	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.5157C>G	3.37:g.52397073C>G							p.L1719L	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		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)	32	5418	+			1719			AAA 1 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5157C>G	CCDS46842.1																																																																																				0.537	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		57	97	0	0	0	1	0	57	97					G	52397073	C	G	52397073	2	3	390	1	0	0	0	0	0	0	0	1	4597	900	32	4		4	DNAH1	3	52397073	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		52397073	145625357	7	34977											
PLA1A	51365	broad.mit.edu	37	chr3	119336993	119336993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgctggacgctgtctGgattgctttaacccttttct	8	11	2	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:119336993G>A	ENST00000273371.4	+	7	954	c.882G>A	c.(880-882)ctG>ctA	p.L294L	PLA1A_ENST00000494440.1_Silent_p.L278L|PLA1A_ENST00000495992.1_Silent_p.L278L|PLA1A_ENST00000488919.1_Silent_p.L121L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	294					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACGCTGTCTGGATTGCTTTA	0.522																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(880-882)ctG>ctA		phospholipase A1 member A							330	313	319					3																	119336993		2203	4300	6503	SO:0001819	synonymous_variant	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336993G>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.882G>A	3.37:g.119336993G>A						PLA1A_ENST00000488919.1_Silent_p.L121L|PLA1A_ENST00000495992.1_Silent_p.L278L|PLA1A_ENST00000494440.1_Silent_p.L278L	p.L294L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			7	954	+			294					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	ENST00000273371.4	37	c.882G>A	CCDS2991.1																																																																																				0.522	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			5	361	0	0	0	1	0	5	361					A	119336993	G	A	119336993	2	1	390	1	0	0	0	0	0	0	0	1	11988	1335	47	2		2	PLA1A	3	119336993	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	66939920	119336993	78685437	8	34978											
CLRN2	645104	broad.mit.edu	37	chr4	17528505	17528505	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcacgacctgacggaaCgaatcgccaactttcaggag	9	11	2	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:17528505C>T	ENST00000511148.2	+	3	601	c.499C>T	c.(499-501)Cga>Tga	p.R167*	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	167						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTGACGGAACGAATCGCCAA	0.552																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(499-501)Cga>Tga		clarin 2							85	92	89					4																	17528505		2106	4233	6339	SO:0001587	stop_gained	645104					integral to membrane		g.chr4:17528505C>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.499C>T	4.37:g.17528505C>T	ENSP00000424711:p.Arg167*						p.R167*	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			3	601	+			167						Nonsense_Mutation	SNP	ENST00000511148.2	37	c.499C>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356356	0.41700	.	.	ENSG00000249581	ENST00000511148	.	.	.	5.76	3.79	0.43588	.	0.134805	0.49916	D	0.000124	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-11.3709	13.2898	0.60264	0.4412:0.5588:0.0:0.0	.	.	.	.	X	167	.	ENSP00000424711:R167X	R	+	1	2	CLRN2	17137603	0.989000	0.36119	0.016000	0.15963	0.043000	0.13939	2.844000	0.48246	1.388000	0.46506	0.655000	0.94253	CGA		0.552	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		4	39	0	0	0	1	0	4	39					T	17528505	C	T	17528505	4	4	390	1	0	0	0	0	0	1	0	0	3558	528	19	1	509	1	CLRN2	4	17528505	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		17528505	173625771	9	34979											
PDS5A	23244	broad.mit.edu	37	chr4	39922020	39922020	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaggactgtttatttaagttCtgaaaaataataaaaacatg	6	3	1	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:39922020C>G	ENST00000303538.8	-	7	1194		c.e7-1		PDS5A_ENST00000503396.1_Splice_Site	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						TATTTAAGTTCTGAAAAATAA	0.274																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.e7-1		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							60	58	58					4																	39922020		1802	4056	5858	SO:0001630	splice_region_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39922020C>G	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.655-1G>C	4.37:g.39922020C>G						PDS5A_ENST00000503396.1_Splice_Site		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			7	1194	-									Splice_Site	SNP	ENST00000303538.8	37		CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295456	0.81025	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3845	0.94551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDS5A	39598415	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.487000	0.81328	2.576000	0.86940	0.644000	0.83932	.		0.274	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	Intron	11	20	0	0	0	1	0	11	20					G	39922020	C	G	39922020	5	3	390	1	0	0	0	0	0	0	1	0	11691	927	32	4	3500	4	PDS5A	4	39922020	Splice_Site	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	22393515	39922020	151232256	10	34980											
SLC25A46	91137	broad.mit.edu	37	chr5	110074990	110074990	+	Frame_Shift_Del	DEL	G	G	-													cggcagccgcaacctgcactGgggcgagaagagcccgccct							TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:110074990delG	ENST00000355943.3	+	1	296	c.170delG	c.(169-171)tggfs	p.W57fs	SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000504098.1_5'Flank|SLC25A46_ENST00000509442.2_Intron	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	57					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AACCTGCACTGGGGCGAGAAG	0.692																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(169-171)tgfs		solute carrier family 25, member 46							12	15	14					5																	110074990		2182	4279	6461	SO:0001589	frameshift_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110074990delG	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.170delG	5.37:g.110074990delG	ENSP00000348211:p.Trp57fs					SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000509442.2_Intron	p.W57fs	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	1	296	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	57					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Frame_Shift_Del	DEL	ENST00000355943.3	37	c.170delG	CCDS4100.1																																																																																				0.692	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		2	4						2	4	---	---	---	---	-	110074990	G	-	110074990	7	5	390	1	0	1	0	1	0	0	0	0	14511	1357	47	0	172	0	SLC25A46	5	110074990	Frame_Shift_Del	DEL	G	TCGA-QH-A6CZ-01A-11D-A32B-08		110074990	70840270	11	34981											
PRR16	51334	broad.mit.edu	37	chr5	120022396	120022396	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaagtcaaccactacaAccgtgtgatgtatgccatta	9	9	1	2	rs560749074		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:120022396A>T	ENST00000407149.2	+	2	1116	c.907A>T	c.(907-909)Acc>Tcc	p.T303S	PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000379551.2_Missense_Mutation_p.T280S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S			Q569H4	LARGN_HUMAN	proline rich 16	303					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACCACTACAACCGTGTGATG	0.388																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(838-840)Acc>Tcc		proline rich 16							52	52	52					5																	120022396		2203	4299	6502	SO:0001583	missense	51334							g.chr5:120022396A>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.907A>T	5.37:g.120022396A>T	ENSP00000385118:p.Thr303Ser					PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000407149.2_Missense_Mutation_p.T303S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S	p.T280S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	1195	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	303			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.838A>T		.	.	.	.	.	.	.	.	.	.	A	20.9	4.068329	0.76301	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.08118	0	0.58432	D	0.999993	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.50415	-0.8831	9	.	.	.	1.2536	14.31	0.66410	1.0:0.0:0.0:0.0	.	303;280	Q569H4;Q569H4-3	PRR16_HUMAN;.	S	303;280;233;233	ENSP00000385118:T303S;ENSP00000368869:T280S;ENSP00000423446:T233S;ENSP00000405491:T233S	.	T	+	1	0	PRR16	120050295	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.919000	0.92770	2.020000	0.59435	0.533000	0.62120	ACC		0.388	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		4	36	0	0	0	1	0	4	36					T	120022396	A	T	120022396	3	4	390	1	0	0	0	0	1	0	0	0	12589	43	2	5	844	5	PRR16	5	120022396	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	9947406	120022396	60892864	12	34982											
CATSPER3	347732	broad.mit.edu	37	chr5	134345082	134345082	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccatcagaaagtttgagCgagagctgatgttggagcag	13	7	1	4	rs369037609		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:134345082C>T	ENST00000282611.6	+	6	924	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	280					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGTTTGAGCGAGAGCTGAT	0.542																																						ENST00000282611.6																			0				NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18						c.(838-840)Cga>Tga		cation channel, sperm associated 3		C	stop/ARG	0,4406		0,0,2203	128	119	122		838	-0.3	0.1	5		122	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CATSPER3	NM_178019.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		280/399	134345082	1,13005	2203	4300	6503	SO:0001587	stop_gained	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134345082C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.838C>T	5.37:g.134345082C>T	ENSP00000282611:p.Arg280*						p.R280*	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	924	+			280					Q86XS6	Nonsense_Mutation	SNP	ENST00000282611.6	37	c.838C>T	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042630	0.55003	0.0	1.16E-4	ENSG00000152705	ENST00000282611	.	.	.	5.07	-0.283	0.12874	.	1.209870	0.05988	N	0.645589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.025	4.0231	0.09675	0.482:0.3355:0.0:0.1824	.	.	.	.	X	280	.	ENSP00000282611:R280X	R	+	1	2	CATSPER3	134372981	0.510000	0.26171	0.079000	0.20413	0.008000	0.06430	0.215000	0.17562	0.073000	0.16731	0.655000	0.94253	CGA		0.542	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		5	93	0	0	0	1	0	5	93					T	134345082	C	T	134345082	4	4	390	1	0	0	0	0	0	1	0	0	2689	760	27	1	860	1	CATSPER3	5	134345082	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	14322686	134345082	46570178	13	34983											
PCDHA2	56146	broad.mit.edu	37	chr5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaccgagggtgcgcgcgCgccaggaaagcccacgctgg	15	16	0	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	733					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)			GGTGCGCGCGCGCCAGGAAAG	0.682																																						ENST00000526136.1																			0				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						c.(2197-2199)gCg>gTg									48	50	50					5																	140176747		2203	4299	6502	SO:0001583	missense	0							g.chr5:140176747C>T	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.2198C>T	5.37:g.140176747C>T	ENSP00000431748:p.Ala733Val					PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V	p.A733V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2198C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	N	2.817	-0.245675	0.05906	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.76709	-1.04;-1.04;-1.04	4.0	-2.0	0.07433	.	0.702690	0.11252	N	0.583549	T	0.62307	0.2417	L	0.35341	1.055	0.09310	N	1	B;B;B	0.17268	0.021;0.007;0.021	B;B;B	0.12837	0.008;0.002;0.005	T	0.41016	-0.9532	10	0.15952	T	0.53	.	9.476	0.38871	0.0:0.5254:0.2214:0.2532	.	733;733;733	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	733	ENSP00000430584:A733V;ENSP00000367372:A733V;ENSP00000431748:A733V	ENSP00000367372:A733V	A	+	2	0	PCDHA2	140156931	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.060000	0.01392	-1.208000	0.02634	-2.635000	0.00153	GCG		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		5	84	0	0	0	1	0	5	84					T	140176747	C	T	140176747	3	4	390	1	0	0	0	0	1	0	0	0	11524	768	27	1	2200	1	PCDHA2	5	140176747	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	5831665	140176747	40738513	14	34984											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869683	140869683	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgaggcagtgcggaacctCtttggcctagaccctagcag	12	12	2	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140869683C>T	ENST00000252087.1	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	292	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAACCTCTTTGGCCTAG	0.537																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(874-876)ctC>ctT									133	129	130					5																	140869683		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869683C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.876C>T	5.37:g.140869683C>T						PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.L292L	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	876	+			292			Cadherin 3.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.876C>T	CCDS4263.1																																																																																				0.537	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		53	101	0	0	0	1	0	53	101					T	140869683	C	T	140869683	2	4	390	1	0	0	0	0	0	0	0	1	11571	900	32	2		2	PCDHGC5	5	140869683	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	692936	140869683	40045577	15	34985											
DSP	1832	broad.mit.edu	37	chr6	7572217	7572217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcagatagagcactgCgagggcaggatgactctcaa	14	10	1	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:7572217C>T	ENST00000379802.3	+	15	2387	c.2046C>T	c.(2044-2046)tgC>tgT	p.C682C	DSP_ENST00000418664.2_Silent_p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	682	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)		TAGAGCACTGCGAGGGCAGGA	0.443																																						ENST00000379802.3																			0				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						c.(2044-2046)tgC>tgT		desmoplakin							80	76	77					6																	7572217		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7572217C>T	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.2046C>T	6.37:g.7572217C>T						DSP_ENST00000418664.2_Silent_p.C682C	p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	15	2387	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	682			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.2046C>T	CCDS4501.1																																																																																				0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		15	23	0	0	0	1	0	15	23					T	7572217	C	T	7572217	2	4	390	1	0	0	0	0	0	0	0	1	4781	776	27	1		1	DSP	6	7572217	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		7572217	163542850	16	34986											
TMEM217	221468	broad.mit.edu	37	chr6	37186212	37186212	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atccacctacctctgcctctCaaagtactgggattccaggt	7	14	2	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:37186212C>T	ENST00000336655.2	-	2	634	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	199						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ctctgcctctcaaagtactgg	0.473																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(595-597)Gag>Aag		transmembrane protein 217							26	28	27					6																	37186212		2203	4297	6500	SO:0001583	missense	221468					integral to membrane		g.chr6:37186212C>T		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 128"	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.595G>A	6.37:g.37186212C>T	ENSP00000338164:p.Glu199Lys					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	634	-			199					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.595G>A	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508225	0.04231	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.14023	0.0;0.01	T	0.36578	-0.9742	7	0.27785	T	0.31	.	.	.	.	.	199;199	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	K	199	.	ENSP00000338164:E199K	E	-	1	0	TMEM217	37294190	0.001000	0.12720	0.010000	0.14722	0.016000	0.09150	-0.338000	0.07842	0.192000	0.20272	0.195000	0.17529	GAG		0.473	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		5	52	0	0	0	1	0	5	52					T	37186212	C	T	37186212	3	4	390	1	0	0	0	0	1	0	0	0	16137	835	29	2	106	2	TMEM217	6	37186212	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	29613995	37186212	133928855	17	34987											
C6orf138	442213	broad.mit.edu	37	chr6	47846107	47846107	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcctctctctcctttcGcttggcacgtttctttttct	4	13	4	0	rs144105703		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:47846107G>A	ENST00000339488.4	-	3	2506	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	825						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTCTCCTTTCGCTTGGCACGT	0.428																																						ENST00000339488.4																			0											c.(2473-2475)Cga>Tga		patched domain containing 4		G	stop/ARG	0,4406		0,0,2203	144	145	144		2473	4.3	1	6	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	C6orf138	NM_001013732.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		825/847	47846107	1,13005	2203	4300	6503	SO:0001587	stop_gained	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846107G>A		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.2473C>T	6.37:g.47846107G>A	ENSP00000341914:p.Arg825*						p.R825*	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2506	-			825					B0QZ29|B4DRK3|Q5T884	Nonsense_Mutation	SNP	ENST00000339488.4	37	c.2473C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	34	5.310074	0.95629	0.0	1.16E-4	ENSG00000244694	ENST00000339488	.	.	.	6.16	4.28	0.50868	.	0.190267	0.43747	D	0.000524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.5173	0.67827	0.0:0.0:0.6364:0.3636	.	.	.	.	X	825	.	ENSP00000341914:R825X	R	-	1	2	C6orf138	47954066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.438000	0.44837	1.597000	0.50072	0.650000	0.86243	CGA		0.428	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		4	153	0	0	0	1	0	4	153					A	47846107	G	A	47846107	4	1	390	1	0	0	0	0	0	1	0	0	2332	1095	38	1	71	1	C6orf138	6	47846107	Nonsense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	10659895	47846107	123268960	18	34988											
THBS2	7058	broad.mit.edu	37	chr6	169634881	169634881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctgcacatcccccacGcaggccttccctccgtactg	7	21	0	0	rs139787473		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:169634881G>A	ENST00000366787.3	-	11	1848	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	533	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.C533*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATCCCCCACGCAGGCCTTCC	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14522	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			1	Substitution - Nonsense(1)	p.C533*(1)	lung(1)	NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1597-1599)tgC>tgT		thrombospondin 2		G		1,4405	2.1+/-5.4	0,1,2202	57	54	55		1599	-1.5	0.4	6	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		533/1173	169634881	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169634881G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1599C>T	6.37:g.169634881G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.C533C	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	11	1848	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	533			TSP type-1 3.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1599C>T	CCDS34574.1																																																																																				0.662	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	66	0	0	0	1	0	6	66					A	169634881	G	A	169634881	2	1	390	1	0	0	0	0	0	0	0	1	15851	1079	38	1		1	THBS2	6	169634881	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	121788774	169634881	1480186	19	34989											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	38						7	38	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	390	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-QH-A6CZ-01A-11D-A32B-08		1586662	157552001	20	34990											
ABCA13	154664	broad.mit.edu	37	chr7	48682920	48682920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaaagtttggctctgTaaggaagcaaatcaacattg	9	7	3	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:48682920T>C	ENST00000435803.1	+	60	14898	c.14874T>C	c.(14872-14874)tgT>tgC	p.C4958C	ABCA13_ENST00000544596.1_Silent_p.C688C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4958					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						TTTGGCTCTGTAAGGAAGCAA	0.318																																						ENST00000435803.1																			0				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						c.(14872-14874)tgT>tgC		ATP-binding cassette, sub-family A (ABC1), member 13							200	191	193					7																	48682920		1825	4086	5911	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48682920T>C	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.14874T>C	7.37:g.48682920T>C						ABCA13_ENST00000544596.1_Silent_p.C688C	p.C4958C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			60	14898	+			4958					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.14874T>C	CCDS47584.1																																																																																				0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		20	162	0	0	0	1	0	20	162					C	48682920	T	C	48682920	2	2	390	1	0	0	0	0	0	0	0	1	31	1644	57	3		3	ABCA13	7	48682920	Silent	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	47096258	48682920	110455743	21	34991											
SRRT	51593	broad.mit.edu	37	chr7	100484956	100484956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgctggagtggcagaAgacttttgaggagaagctca	14	7	1	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:100484956A>C	ENST00000347433.4	+	16	2149	c.1991A>C	c.(1990-1992)aAg>aCg	p.K664T	SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000388793.4_Missense_Mutation_p.K663T|SRRT_ENST00000432932.1_Missense_Mutation_p.K663T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	664					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGTGGCAGAAGACTTTTGAG	0.587																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1987-1989)aAg>aCg		serrate RNA effector molecule homolog (Arabidopsis)							86	93	90					7																	100484956		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484956A>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1991A>C	7.37:g.100484956A>C	ENSP00000314491:p.Lys664Thr					SRRT_ENST00000347433.4_Missense_Mutation_p.K664T|SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000432932.1_Missense_Mutation_p.K663T	p.K663T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			16	2208	+			664					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1988A>C	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893425	0.52121	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.56	4.56	0.56223	Arsenite-resistance protein 2 (1);	0.051349	0.85682	D	0.000000	T	0.78387	0.4275	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.78314	0.991;0.91;0.91;0.946	T	0.79654	-0.1713	9	0.44086	T	0.13	.	11.8804	0.52571	1.0:0.0:0.0:0.0	.	663;663;664;664	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	T	664;663;29;663;664;294	.	ENSP00000344670:K29T	K	+	2	0	SRRT	100322892	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	5.686000	0.68211	1.902000	0.55061	0.247000	0.18012	AAG		0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		48	82	0	0	0	1	0	48	82					C	100484956	A	C	100484956	3	2	390	1	0	0	0	0	1	0	0	0	15171	72	3	5	2049	5	SRRT	7	100484956	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	51802036	100484956	58653707	22	34992											
TRPV6	55503	broad.mit.edu	37	chr7	142573252	142573252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtaagagggtgttgTcccgggggctcgtgcggtta	17	8	1	1	rs377233085		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:142573252T>C	ENST00000359396.3	-	8	1336	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	364					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGGGTGTTGTCCCGGGGGCT	0.562																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1090-1092)gAc>gGc		transient receptor potential cation channel, subfamily V, member 6		T	GLY/ASP	0,4406		0,0,2203	94	89	91		1091	4.6	1	7		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRPV6	NM_018646.2	94	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	364/726	142573252	1,13005	2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573252T>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1091A>G	7.37:g.142573252T>C	ENSP00000352358:p.Asp364Gly						p.D364G	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			8	1336	-	Melanoma(164;0.059)		364					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1091A>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.296756	0.60086	0.0	1.16E-4	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.86366	-2.11	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.93158	0.6555	10	0.45353	T	0.12	-35.1014	13.3177	0.60417	0.0:0.0:0.0:1.0	.	364	Q9H1D0	TRPV6_HUMAN	G	364;196	ENSP00000352358:D364G	ENSP00000310825:D196G	D	-	2	0	TRPV6	142283374	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	5.522000	0.67092	1.936000	0.56123	0.460000	0.39030	GAC		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		43	44	0	0	0	1	0	43	44					C	142573252	T	C	142573252	3	2	390	1	0	0	0	0	1	0	0	0	16597	1667	58	3	1118	3	TRPV6	7	142573252	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	42088296	142573252	16565411	23	34993											
RP1L1	94137	broad.mit.edu	37	chr8	10464926	10464926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcctccggggtctctaCgccttctggctctggctggg	13	14	4	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr8:10464926C>T	ENST00000382483.3	-	4	6905	c.6682G>A	c.(6682-6684)Gta>Ata	p.V2228I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2308	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)		GGGGTCTCTACGCCTTCTGGC	0.607																																						ENST00000382483.3																			0				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						c.(6682-6684)Gta>Ata		retinitis pigmentosa 1-like 1							104	111	109					8																	10464926		1911	4112	6023	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464926C>T	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.6682G>A	8.37:g.10464926C>T	ENSP00000371923:p.Val2228Ile						p.V2228I	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6905	-			2228					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6682G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.821	0.520620	0.13005	.	.	ENSG00000183638	ENST00000382483	T	0.07908	3.15	2.86	1.95	0.26073	.	.	.	.	.	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.35312	0.2	T	0.40776	-0.9545	9	0.38643	T	0.18	.	8.0209	0.30408	0.0:0.8615:0.0:0.1385	.	2228	A6NKC6	.	I	2228	ENSP00000371923:V2228I	ENSP00000371923:V2228I	V	-	1	0	RP1L1	10502336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.181000	0.16880	0.484000	0.27630	0.484000	0.47621	GTA		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	244	0	0	0	1	0	8	244					T	10464926	C	T	10464926	3	4	390	1	0	0	0	0	1	0	0	0	13533	536	19	1	524	1	RP1L1	8	10464926	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		10464926	135899096	24	34994											
PRKACG	5568	broad.mit.edu	37	chr9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtgcggcccttcacgCgcttggcgaaaccgaagtcc	11	15	1	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	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)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(571-573)cGc>cAc		protein kinase, cAMP-dependent, catalytic, gamma							48	47	48					9																	71628437		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628437C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.572G>A	9.37:g.71628437C>T	ENSP00000366488:p.Arg191His						p.R191H	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	602	-			191			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.572G>A	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064166	0.36373	.	.	ENSG00000165059	ENST00000377276	T	0.66099	-0.19	1.03	1.03	0.20045	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	0.30771	U	0.008917	T	0.47021	0.1423	L	0.38531	1.155	0.28973	N	0.889121	B	0.32245	0.361	B	0.32677	0.15	T	0.45614	-0.9249	10	0.54805	T	0.06	.	7.4815	0.27408	0.0:1.0:0.0:0.0	.	191	P22612	KAPCG_HUMAN	H	191	ENSP00000366488:R191H	ENSP00000366488:R191H	R	-	2	0	PRKACG	70818257	0.047000	0.20315	0.007000	0.13788	0.007000	0.05969	3.736000	0.55052	0.458000	0.26988	0.467000	0.42956	CGC		0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			11	16	0	0	0	1	0	11	16					T	71628437	C	T	71628437	3	4	390	1	0	0	0	0	1	0	0	0	12499	768	27	1	487	1	PRKACG	9	71628437	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		71628437	69584994	25	34995											
KIAA0649	9858	broad.mit.edu	37	chr9	138377994	138377994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttttggccctaaaggcGcagtcagggagtttgctggc	13	9	1	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:138377994G>A	ENST00000356818.2	+	4	2187	c.1638G>A	c.(1636-1638)gcG>gcA	p.A546A	PPP1R26_ENST00000604351.1_Silent_p.A546A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.A546A|PPP1R26_ENST00000605286.1_Silent_p.A546A|PPP1R26_ENST00000401470.3_Silent_p.A546A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	546					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCCTAAAGGCGCAGTCAGGGA	0.627																																						ENST00000356818.2																			0											c.(1636-1638)gcG>gcA		protein phosphatase 1, regulatory subunit 26							100	106	104					9																	138377994		2203	4300	6503	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377994G>A	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.1638G>A	9.37:g.138377994G>A						PPP1R26_ENST00000401470.3_Silent_p.A546A|PPP1R26_ENST00000605286.1_Silent_p.A546A|PPP1R26_ENST00000605660.1_Silent_p.A546A|PPP1R26_ENST00000604351.1_Silent_p.A546A|PPP1R26_ENST00000602993.1_Intron	p.A546A	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2187	+			546					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1638G>A	CCDS6988.1																																																																																				0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		5	191	0	0	0	1	0	5	191					A	138377994	G	A	138377994	2	1	390	1	0	0	0	0	0	0	0	1	8187	1074	38	1		1	KIAA0649	9	138377994	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	66749557	138377994	2835437	26	34996											
ANUBL1	93550	broad.mit.edu	37	chr10	46122443	46122443	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaggtgaacaagattgAccaatgttggggaggaccct	13	7	0	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr10:46122443A>G	ENST00000344646.5	-	7	1043	c.828T>C	c.(826-828)ggT>ggC	p.G276G	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Silent_p.G202G	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	276							zinc ion binding (GO:0008270)										AACAAGATTGACCAATGTTGG	0.478																																						ENST00000374366.3																			0											c.(604-606)ggT>ggC		zinc finger, AN1-type domain 4							100	91	94					10																	46122443		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46122443A>G	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.828T>C	10.37:g.46122443A>G						ZFAND4_ENST00000344646.5_Silent_p.G276G|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR	p.G202G			Q86XD8	ANUB1_HUMAN			8	1071	-			276					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.606T>C	CCDS7214.1																																																																																				0.478	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		5	106	0	0	0	1	0	5	106					G	46122443	A	G	46122443	2	3	390	1	0	0	0	0	0	0	0	1	713	262	10	3		3	ANUBL1	10	46122443	Silent	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08		46122443	89412304	27	34997											
OR4C16	219428	broad.mit.edu	37	chr11	55339921	55339921	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcatcccatgtctttggCtgcctggagatcttcatcct	7	12	4	1	rs375303396		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr11:55339921C>A	ENST00000314634.3	+	1	318	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106						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)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTCTTTGGCTGCCTGGAGA	0.488																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(316-318)ggC>ggA		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							227	219	222					11																	55339921		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339921C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.318C>A	11.37:g.55339921C>A							p.G106G	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	318	+		all_epithelial(135;0.0748)	106					Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.318C>A	CCDS31502.1																																																																																				0.488	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		8	238	1	0	1.33987e-11	1	1.41295e-11	8	238					A	55339921	C	A	55339921	2	1	390	1	0	0	0	0	0	0	0	1	11049	784	28	4		4	OR4C16	11	55339921	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		55339921	79666595	28	34998											
ACVR1B	91	broad.mit.edu	37	chr12	52380606	52380606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgctattgcagatacAtggcccctgaagtacttgat	9	8	0	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:52380606A>G	ENST00000257963.4	+	7	1218	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V	ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	381	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)	TTGCAGATACATGGCCCCTGA	0.398																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1141-1143)Atg>Gtg		activin A receptor, type IB	Adenosine triphosphate(DB00171)						103	102	103					12																	52380606		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52380606A>G		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.1141A>G	12.37:g.52380606A>G	ENSP00000257963:p.Met381Val					ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V	p.M381V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	7	1218	+			381			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1141A>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199423	0.79015	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.04	5.04	0.67666	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	0.97081	0.9046	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.61697	0.969;0.99;0.969;0.985	P;D;P;D	0.65443	0.73;0.935;0.846;0.911	D	0.97981	1.0349	10	0.87932	D	0	.	15.2504	0.73539	1.0:0.0:0.0:0.0	.	422;381;381;381	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	381;422;381;381;329	ENSP00000257963:M381V;ENSP00000442656:M422V;ENSP00000390477:M381V;ENSP00000397550:M381V;ENSP00000442885:M329V	ENSP00000257963:M381V	M	+	1	0	ACVR1B	50666873	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.139000	0.94554	2.257000	0.74773	0.460000	0.39030	ATG		0.398	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		23	74	0	0	0	1	0	23	74					G	52380606	A	G	52380606	3	3	390	1	0	0	0	0	1	0	0	0	221	217	8	3	1294	3	ACVR1B	12	52380606	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08		52380606	81471289	29	34999											
STAB2	55576	broad.mit.edu	37	chr12	104140466	104140466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctggattatgaaggtgaCggaatcacatgcacaggtaa	11	7	1	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:104140466C>T	ENST00000388887.2	+	58	6432	c.6228C>T	c.(6226-6228)gaC>gaT	p.D2076D	RP11-341G23.4_ENST00000551299.1_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						ATGAAGGTGACGGAATCACAT	0.512																																						ENST00000388887.2																			0				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						c.(6226-6228)gaC>gaT		stabilin 2							284	220	241					12																	104140466		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140466C>T	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.6228C>T	12.37:g.104140466C>T						RP11-341G23.4_ENST00000551299.1_RNA	p.D2076D	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6432	+			2076			EGF-like 15.			Silent	SNP	ENST00000388887.2	37	c.6228C>T	CCDS31888.1																																																																																				0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			16	191	0	0	0	1	0	16	191					T	104140466	C	T	104140466	2	4	390	1	0	0	0	0	0	0	0	1	15237	535	19	1		1	STAB2	12	104140466	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	51759860	104140466	29711429	30	35000											
SLC28A1	9154	broad.mit.edu	37	chr15	85461769	85461769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggttctgcccatcatTgtctttttcagctgtgtcat	9	11	5	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr15:85461769T>G	ENST00000286749.3	+	9	900	c.810T>G	c.(808-810)atT>atG	p.I270M	SLC28A1_ENST00000394573.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	270					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGCCCATCATTGTCTTTTTCA	0.602																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(808-810)atT>atG		solute carrier family 28 (concentrative nucleoside transporter), member 1							256	235	243					15																	85461769		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461769T>G	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.810T>G	15.37:g.85461769T>G	ENSP00000286749:p.Ile270Met					SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.I270M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M	p.I270M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	1012	+			270					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.810T>G	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	T	9.776	1.174036	0.21704	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.21	-5.36	0.02689	Nucleoside recognition (1);	0.202747	0.43110	D	0.000614	T	0.62282	0.2415	M	0.89904	3.07	0.31560	N	0.657593	D;B;D;B;P	0.67145	0.981;0.247;0.996;0.161;0.936	D;B;D;B;D	0.72982	0.93;0.358;0.979;0.314;0.93	T	0.66048	-0.6020	10	0.56958	D	0.05	-2.9559	11.9403	0.52896	0.0:0.6779:0.1346:0.1875	.	270;270;270;192;270	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	M	270;270;270;270;270;192	ENSP00000440546:I270M;ENSP00000443752:I270M;ENSP00000444700:I270M;ENSP00000286749:I270M;ENSP00000378074:I270M;ENSP00000443764:I192M	ENSP00000286749:I270M	I	+	3	3	SLC28A1	83262773	0.019000	0.18553	0.015000	0.15790	0.484000	0.33280	-1.128000	0.03247	-1.126000	0.02929	-0.274000	0.10170	ATT		0.602	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			68	76	0	0	0	1	0	68	76					G	85461769	T	G	85461769	3	3	390	1	0	0	0	0	1	0	0	0	14531	1800	63	5	911	5	SLC28A1	15	85461769	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08		85461769	17069623	31	35001											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214474	67214474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actggtaggcgggctgggggGtgcctgatcatacgcctgag	18	9	1	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr16:67214474G>T	ENST00000290881.7	-	3	966	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T			Q68EN5	K895L_HUMAN	KIAA0895-like	14	Pro-rich.							p.S16fs*13(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGCTGGGGGGTGCCTGATCA	0.647																																						ENST00000290881.7																			1	Deletion - Frameshift(1)	p.S16fs*13(1)	prostate(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(40-42)Ccc>Acc		KIAA0895-like							25	30	29					16																	67214474		1860	3878	5738	SO:0001583	missense	653319							g.chr16:67214474G>T	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.40C>A	16.37:g.67214474G>T	ENSP00000290881:p.Pro14Thr					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000563831.2_Intron	p.P14T			Q68EN5	K895L_HUMAN			3	966	-			14			Pro-rich.		A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.40C>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278618	0.59758	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	3.65	0.41850	.	0.134532	0.48767	D	0.000174	T	0.42585	0.1209	L	0.50333	1.59	0.30126	N	0.805261	B;B	0.34103	0.419;0.437	B;B	0.36244	0.22;0.154	T	0.50980	-0.8763	9	0.62326	D	0.03	-12.6929	10.4161	0.44322	0.0959:0.0:0.9041:0.0	.	14;14	Q68EN5-2;Q68EN5	.;K895L_HUMAN	T	14	.	ENSP00000290881:P14T	P	-	1	0	KIAA0895L	65771975	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	2.937000	0.48979	1.284000	0.44531	0.650000	0.86243	CCC		0.647	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		19	21	1	0	4.35082e-09	1	4.5062e-09	19	21					T	67214474	G	T	67214474	3	4	390	1	0	0	0	0	1	0	0	0	8198	1261	44	4	1399	4	KIAA0895L	16	67214474	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		67214474	23140279	32	35002											
WDR81	124997	broad.mit.edu	37	chr17	1640948	1640949	+	Frame_Shift_Ins	INS	-	-	G													cgccacctcctgctgggctcINSagacaacggggttatccgcc							TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:1640948_1640949insG	ENST00000409644.1	+	10	5795_5796	c.5795_5796insG	c.(5794-5799)tcagacfs	p.D1933fs	WDR81_ENST00000437219.2_Frame_Shift_Ins_p.D730fs|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.D882fs|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.D706fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Frame_Shift_Ins_p.D564fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.D572fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1933					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCTGGGCTCAGACAACGGGG	0.653																																						ENST00000409644.1																			6	Substitution - coding silent(6)	p.S881S(2)|p.S1932S(2)|p.S729S(2)	lung(6)	cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5794-5796)tgafs		WD repeat domain 81																																				SO:0001589	frameshift_variant	124997							g.chr17:1640948_1640949insG	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	Exception_encountered	17.37:g.1640948_1640949insG	ENSP00000386609:p.Asp1933fs					WDR81_ENST00000545662.1_Frame_Shift_Ins_p.*563fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.*571fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.*881fs|WDR81_ENST00000437219.2_Frame_Shift_Ins_p.*729fs|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.*705fs	p.*1932fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	5795_5796	+			705					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Ins	INS	ENST00000409644.1	37	c.5795_5796insG	CCDS54062.1																																																																																				0.653	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		17	30						17	30	---	---	---	---	G	1640949	-	G	1640948	7	5	390	1	0	1	1	0	0	0	0	0	17327	838	29	0	5895	0	WDR81	17	1640948	Frame_Shift_Ins	INS	-	TCGA-QH-A6CZ-01A-11D-A32B-08		1640948	79554262	33	35003											
C17orf85	55421	broad.mit.edu	37	chr17	3717702	3717702	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcacatcagaagagggcTctctccgaacgacggggtta	12	10	2	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:3717702T>C	ENST00000389005.4	-	12	1568	c.1541A>G	c.(1540-1542)gAg>gGg	p.E514G	C17orf85_ENST00000158149.3_Missense_Mutation_p.E234G	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	514							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGAAGAGGGCTCTCTCCGAAC	0.473																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(700-702)gAg>gGg		chromosome 17 open reading frame 85							133	117	123					17																	3717702		2203	4300	6503	SO:0001583	missense	55421						nucleotide binding	g.chr17:3717702T>C		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1541A>G	17.37:g.3717702T>C	ENSP00000373657:p.Glu514Gly					C17orf85_ENST00000389005.4_Missense_Mutation_p.E514G	p.E234G			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	13	1596	-			514					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	ENST00000389005.4	37	c.701A>G	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855836	0.91355	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.69371	-0.5163	9	0.87932	D	0	-17.9739	13.7944	0.63162	0.0:0.0:0.0:1.0	.	514	Q53F19	CQ085_HUMAN	G	514;234	.	ENSP00000158149:E234G	E	-	2	0	C17orf85	3664451	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.663000	0.74431	2.199000	0.70637	0.455000	0.32223	GAG		0.473	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		4	98	0	0	0	1	0	4	98					C	3717702	T	C	3717702	3	2	390	1	0	0	0	0	1	0	0	0	1888	1551	54	3	329	3	C17orf85	17	3717702	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	2076754	3717702	77477508	34	35004											
TP53	7157	broad.mit.edu	37	chr17	7578505	7578505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaacccacagctgcacaGggcaggtcttggccagttgg	12	12	2	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:7578505G>A	ENST00000269305.4	-	5	614	c.425C>T	c.(424-426)cCt>cTt	p.P142L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L|TP53_ENST00000420246.2_Missense_Mutation_p.P142L	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	142	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(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)	CAGCTGCACAGGGCAGGTCTT	0.587		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		35	Substitution - Missense(13)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(4)	p.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(1)	ovary(9)|skin(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|upper_aerodigestive_tract(2)|large_intestine(2)|stomach(2)|vulva(1)|lung(1)|prostate(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						c.(424-426)cCt>cTt	Other conserved DNA damage response genes	tumor protein p53							57	56	57					17																	7578505		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578505G>A	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.425C>T	17.37:g.7578505G>A	ENSP00000269305:p.Pro142Leu	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)				TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000269305.4_Missense_Mutation_p.P142L	p.P142L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	557	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	142		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.425C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103292	0.56183	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99908	-7.81;-7.81;-7.81;-7.81;-7.81;-7.81;-7.81;-7.81;-7.81	5.48	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.113302	0.64402	D	0.000014	D	0.99889	0.9947	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;0.998;1.0;0.996;1.0;1.0	D	0.96062	0.9039	10	0.66056	D	0.02	-23.5946	12.4373	0.55606	0.082:0.0:0.918:0.0	.	103;142;142;49;142;142;142	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	142;142;142;142;142;142;131;49;10;49;10;142	ENSP00000410739:P142L;ENSP00000352610:P142L;ENSP00000269305:P142L;ENSP00000398846:P142L;ENSP00000391127:P142L;ENSP00000391478:P142L;ENSP00000425104:P10L;ENSP00000423862:P49L;ENSP00000424104:P142L	ENSP00000269305:P142L	P	-	2	0	TP53	7519230	1.000000	0.71417	0.882000	0.34594	0.012000	0.07955	7.837000	0.86796	1.453000	0.47775	-0.140000	0.14226	CCT		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	51	0	0	0	1	0	4	51					A	7578505	G	A	7578505	3	1	390	1	0	0	0	0	1	0	0	0	16378	1000	35	2	873	2	TP53	17	7578505	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	3860803	7578505	73616705	35	35005											
FAM83G	644815	broad.mit.edu	37	chr17	18874815	18874815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagggactcggatgctcctCggtggccctgccatcggtca	14	13	1	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:18874815C>T	ENST00000388995.6	-	6	2552	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	777					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						GGATGCTCCTCGGTGGCCCTG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2329-2331)Gag>Aag		family with sequence similarity 83, member G							92	103	99					17																	18874815		2008	4158	6166	SO:0001583	missense	644815							g.chr17:18874815C>T	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.2329G>A	17.37:g.18874815C>T	ENSP00000373647:p.Glu777Lys					SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron	p.E777K			A6ND36	FA83G_HUMAN			6	2552	-			777					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2329G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424537	0.43020	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.14144	2.53;2.53	5.29	3.25	0.37280	.	0.465409	0.22096	N	0.064692	T	0.14056	0.0340	M	0.67953	2.075	0.32835	D	0.504524	B	0.29508	0.246	B	0.15484	0.013	T	0.09100	-1.0690	10	0.32370	T	0.25	-27.8987	10.8091	0.46535	0.0:0.7968:0.1317:0.0715	.	777	A6ND36	FA83G_HUMAN	K	777	ENSP00000373647:E777K;ENSP00000343279:E777K	ENSP00000343279:E777K	E	-	1	0	FAM83G	18815540	0.602000	0.26916	0.180000	0.23079	0.135000	0.20990	2.408000	0.44574	0.694000	0.31654	0.561000	0.74099	GAG		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			9	168	0	0	0	1	0	9	168					T	18874815	C	T	18874815	3	4	390	1	0	0	0	0	1	0	0	0	5639	893	31	1	146	1	FAM83G	17	18874815	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	11296310	18874815	62320395	36	35006											
EVI2B	2124	broad.mit.edu	37	chr17	29631826	29631826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtaagtgaaatgattgAtgtacgttttgtggatattt	13	1	0	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:29631826A>G	ENST00000330927.4	-	2	956	c.802T>C	c.(802-804)Tca>Cca	p.S268P	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P|EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	268						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAATGATTGATGTACGTTTT	0.363																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(802-804)Tca>Cca		ecotropic viral integration site 2B							128	120	123					17																	29631826		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631826A>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"CD molecules"	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.802T>C	17.37:g.29631826A>G	ENSP00000333779:p.Ser268Pro					EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P	p.S268P	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	956	-		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)	268					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.802T>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363690	0.41902	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.60797	0.17;0.16	5.49	5.49	0.81192	.	0.000000	0.40640	N	0.001054	T	0.61714	0.2369	L	0.32530	0.975	0.80722	D	1	P;D	0.56521	0.94;0.976	P;D	0.64042	0.887;0.921	T	0.62291	-0.6885	10	0.45353	T	0.12	-27.0281	10.0114	0.41988	0.9246:0.0:0.0754:0.0	.	283;268	B7Z4A7;P34910	.;EVI2B_HUMAN	P	268;283	ENSP00000333779:S268P;ENSP00000439738:S283P	ENSP00000333779:S268P	S	-	1	0	EVI2B	26655952	0.999000	0.42202	0.325000	0.25375	0.179000	0.23085	4.539000	0.60657	2.085000	0.62840	0.533000	0.62120	TCA		0.363	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		6	131	0	0	0	1	0	6	131					G	29631826	A	G	29631826	3	3	390	1	0	0	0	0	1	0	0	0	5288	333	12	3	548	3	EVI2B	17	29631826	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	10757011	29631826	51563384	37	35007											
ASXL3	80816	broad.mit.edu	37	chr18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgaaatctgaacttcacGaagcagacaagggctttaga	10	8	2	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1674					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						TGAACTTCACGAAGCAGACAA	0.478																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5020-5022)Gaa>Aaa		additional sex combs like 3 (Drosophila)							77	81	80					18																	31324832		2028	4196	6224	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324832G>A	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.5020G>A	18.37:g.31324832G>A	ENSP00000269197:p.Glu1674Lys						p.E1674K	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5020	+			1674					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5020G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571596	0.28003	.	.	ENSG00000141431	ENST00000269197	T	0.16457	2.34	5.86	5.86	0.93980	.	.	.	.	.	T	0.13372	0.0324	L	0.27053	0.805	0.40577	D	0.981353	P	0.46020	0.871	B	0.32583	0.148	T	0.03278	-1.1053	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1674	Q9C0F0	ASXL3_HUMAN	K	1674	ENSP00000269197:E1674K	ENSP00000269197:E1674K	E	+	1	0	ASXL3	29578830	1.000000	0.71417	0.243000	0.24186	0.058000	0.15608	4.933000	0.63484	2.775000	0.95449	0.655000	0.94253	GAA		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			50	41	0	0	0	1	0	50	41					A	31324832	G	A	31324832	3	1	390	1	0	0	0	0	1	0	0	0	1068	1059	37	1	5066	1	ASXL3	18	31324832	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		31324832	46752416	38	35008											
MYO5B	4645	broad.mit.edu	37	chr18	47500793	47500793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgttgatgtgctccaCaatccagccgaacaactggg	11	12	0	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:47500793C>A	ENST00000285039.7	-	10	1548	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	417	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGTGCTCCACAATCCAGCCG	0.587																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1249-1251)Gtg>Ttg		myosin VB							138	149	145					18																	47500793		2176	4264	6440	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500793C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1249G>T	18.37:g.47500793C>A	ENSP00000285039:p.Val417Leu						p.V417L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1548	-			417			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1249G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462238	0.96240	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.91464	-2.85	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	M	0.90483	3.12	0.80722	D	1	D;D	0.61697	0.975;0.99	D;P	0.68353	0.957;0.879	D	0.96615	0.9455	10	0.87932	D	0	.	19.3767	0.94512	0.0:1.0:0.0:0.0	.	416;417	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	L	417;416	ENSP00000285039:V417L	ENSP00000285039:V417L	V	-	1	0	MYO5B	45754791	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.729000	0.84864	2.735000	0.93741	0.655000	0.94253	GTG		0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			4	68	1	0	0.000602214	1	0.00061278	4	68					A	47500793	C	A	47500793	3	1	390	1	0	0	0	0	1	0	0	0	10079	478	17	4	4421	4	MYO5B	18	47500793	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	16175961	47500793	30576455	39	35009											
ARRDC5	645432	broad.mit.edu	37	chr19	4891574	4891574	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttctcctcagcctccacGaacaaggggttctaggagga	10	12	3	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:4891574G>A	ENST00000381781.2	-	3	512	c.513C>T	c.(511-513)ttC>ttT	p.F171F	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	171										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAGCCTCCACGAACAAGGGGT	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(511-513)ttC>ttT		arrestin domain containing 5							37	33	35					19																	4891574		1976	4162	6138	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4891574G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.513C>T	19.37:g.4891574G>A							p.F171F	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	512	-			171						Silent	SNP	ENST00000381781.2	37	c.513C>T	CCDS45929.1																																																																																				0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		13	11	0	0	0	1	0	13	11					A	4891574	G	A	4891574	2	1	390	1	0	0	0	0	0	0	0	1	986	1049	37	1		1	ARRDC5	19	4891574	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		4891574	54237409	40	35010											
CPAMD8	27151	broad.mit.edu	37	chr19	17081798	17081798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggccaccgtcctgccGgtggttcaggctcactcggt	14	13	2	1	rs201764550		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:17081798G>A	ENST00000443236.1	-	18	2288	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	706						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						CCGTCCTGCCGGTGGTTCAGG	0.632																																						ENST00000443236.1																			0				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						c.(2257-2259)Cgg>Tgg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		G	TRP/ARG	0,4134		0,0,2067	58	62	61		2257	-3	1	19		61	2,8378		0,2,4188	yes	missense	CPAMD8	NM_015692.2	101	0,2,6255	AA,AG,GG		0.0239,0.0,0.016	probably-damaging	753/1933	17081798	2,12512	2067	4190	6257	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17081798G>A	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.2257C>T	19.37:g.17081798G>A	ENSP00000402505:p.Arg753Trp					CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	p.R753W	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			18	2288	-			706					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2257C>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432760|3.432760	0.62844|0.62844	0.0|0.0	2.39E-4|2.39E-4	ENSG00000160111|ENSG00000160111	ENST00000388925|ENST00000291440	T|.	0.53423|.	0.62|.	3.18|3.18	-2.96|-2.96	0.05547|0.05547	.|.	.|0.497877	.|0.15740	.|U	.|0.246969	T|T	0.69151|0.69151	0.3079|0.3079	M|M	0.70595|0.70595	2.14|2.14	0.33572|0.33572	D|D	0.59873|0.59873	.|D	.|0.89917	.|1.0	.|D	.|0.69654	.|0.965	T|T	0.76844|0.76844	-0.2809|-0.2809	7|9	0.87932|0.66056	D|D	0|0.02	.|.	12.8487|12.8487	0.57844|0.57844	0.0:0.0:0.447:0.553|0.0:0.0:0.447:0.553	.|.	.|706	.|Q8IZJ3	.|CPMD8_HUMAN	L|W	495|753	ENSP00000373577:P495L|.	ENSP00000373577:P495L|ENSP00000291440:R753W	P|R	-|-	2|1	0|2	CPAMD8|CPAMD8	16942798|16942798	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.962000|0.962000	0.63368|0.63368	1.145000|1.145000	0.31577|0.31577	-0.080000|-0.080000	0.12685|0.12685	-0.188000|-0.188000	0.12872|0.12872	CCG|CGG		0.632	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	65	0	0	0	1	0	4	65					A	17081798	G	A	17081798	3	1	390	1	0	0	0	0	1	0	0	0	3795	1115	39	1	3641	1	CPAMD8	19	17081798	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	12190224	17081798	42047185	41	35011											
SLC5A5	6528	broad.mit.edu	37	chr19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtggtgggacctcgcaCggcagacagcatcagtggcc	15	11	1	1	rs201835225	byFrequency	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					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)	p.R569W(1)		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						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15988	0.0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.R569W(1)	prostate(1)	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						c.(1705-1707)Cgg>Tgg		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	TRP/ARG	0,4406		0,0,2203	116	112	113		1705	1.2	0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		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.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2052	+			569					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			10	198	0	0	0	1	0	10	198					T	18001748	C	T	18001748	3	4	390	1	0	0	0	0	1	0	0	0	14668	527	19	1	1759	1	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	919950	18001748	41127235	42	35012											
GMIP	51291	broad.mit.edu	37	chr19	19751149	19751149	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagcgatcttcatggTgctcttagcaaactccagct	8	12	4	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:19751149T>G	ENST00000203556.4	-	6	522	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	GMIP_ENST00000445806.2_Missense_Mutation_p.T129P|GMIP_ENST00000587238.1_Missense_Mutation_p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	129					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCTTCATGGTGCTCTTAGCA	0.607																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(385-387)Acc>Ccc		GEM interacting protein							69	76	73					19																	19751149		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19751149T>G	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.385A>C	19.37:g.19751149T>G	ENSP00000203556:p.Thr129Pro					GMIP_ENST00000445806.2_Missense_Mutation_p.T129P|GMIP_ENST00000587238.1_Missense_Mutation_p.T129P	p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			6	522	-			129					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.385A>C	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.880245	0.33162	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.41400	1.0;1.0	4.98	0.201	0.15186	.	0.480369	0.17476	N	0.172895	T	0.20740	0.0499	N	0.14661	0.345	0.09310	N	1	P;P;P	0.36616	0.561;0.561;0.561	B;B;B	0.34385	0.181;0.181;0.181	T	0.12243	-1.0555	10	0.87932	D	0	-6.413	4.8471	0.13519	0.0:0.2632:0.1522:0.5845	.	129;129;129	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	P	129	ENSP00000203556:T129P;ENSP00000397075:T129P	ENSP00000203556:T129P	T	-	1	0	GMIP	19612149	0.000000	0.05858	0.051000	0.19133	0.698000	0.40448	-0.292000	0.08332	-0.023000	0.13963	0.459000	0.35465	ACC		0.607	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	88	0	0	0	1	0	4	88					G	19751149	T	G	19751149	3	3	390	1	0	0	0	0	1	0	0	0	6491	1696	59	5	2591	5	GMIP	19	19751149	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	1749401	19751149	39377834	43	35013											
CAPN12	147968	broad.mit.edu	37	chr19	39224801	39224801	+	Frame_Shift_Del	DEL	C	C	-													cctgccactccaggaggtagCcccagagctgctggaagtgg							TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:39224801delC	ENST00000328867.4	-	17	2167	c.1859delG	c.(1858-1860)ggcfs	p.G620fs	CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	620	Domain IV.|EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGAGGTAGCCCCAGAGCTG	0.572																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1858-1860)gcfs		calpain 12							61	63	62					19																	39224801		2199	4299	6498	SO:0001589	frameshift_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39224801delC	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1859delG	19.37:g.39224801delC	ENSP00000331636:p.Gly620fs					CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	p.G620fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		17	2167	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		620			Domain IV.|EF-hand.			Frame_Shift_Del	DEL	ENST00000328867.4	37	c.1859delG	CCDS12519.1																																																																																				0.572	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			23	8						23	8	---	---	---	---	-	39224801	C	-	39224801	7	5	390	1	0	1	0	1	0	0	0	0	2625	739	26	0	320	0	CAPN12	19	39224801	Frame_Shift_Del	DEL	C	TCGA-QH-A6CZ-01A-11D-A32B-08	19473652	39224801	19904182	44	35014											
CIC	23152	broad.mit.edu	37	chr19	42791794	42791794	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcatcccaaccaggacaAccggaccgtcagcaagatcc	9	16	2	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42791794A>T	ENST00000575354.2	+	5	720	c.680A>T	c.(679-681)aAc>aTc	p.N227I	CIC_ENST00000160740.3_Missense_Mutation_p.N227I|CIC_ENST00000572681.2_Missense_Mutation_p.N1136I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	227					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)				AACCAGGACAACCGGACCGTC	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3406-3408)aAc>aTc		capicua transcriptional repressor							81	75	77					19																	42791794		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791794A>T	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.680A>T	19.37:g.42791794A>T	ENSP00000458663:p.Asn227Ile					CIC_ENST00000160740.3_Missense_Mutation_p.N227I|CIC_ENST00000575354.2_Missense_Mutation_p.N227I	p.N1136I			Q96RK0	CIC_HUMAN			6	3475	+		Prostate(69;0.00682)	227			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3407A>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186918	0.57909	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.77592	0.4153	M	0.77616	2.38	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	T	0.80562	-0.1327	8	0.87932	D	0	-19.6304	11.626	0.51145	1.0:0.0:0.0:0.0	.	227	Q96RK0	CIC_HUMAN	I	227	.	ENSP00000160740:N227I	N	+	2	0	CIC	47483634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AAC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			22	5	0	0	0	1	0	22	5					T	42791794	A	T	42791794	3	4	390	1	0	0	0	0	1	0	0	0	3424	43	2	5	698	5	CIC	19	42791794	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	3566993	42791794	16337189	45	35015											
CIC	23152	broad.mit.edu	37	chr19	42795609	42795609	+	Frame_Shift_Del	DEL	C	C	-													agtctgtaccctccgccccaCcccccaaaggtgagacctgg							TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42795609delC	ENST00000575354.2	+	10	2729	c.2689delC	c.(2689-2691)cccfs	p.P898fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.P1807fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	898	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)				CTCCGCCCCACCCCCCAAAGG	0.607			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5416-5418)ccfs		capicua transcriptional repressor							53	53	53					19																	42795609		2174	4270	6444	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795609delC	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.2689delC	19.37:g.42795609delC	ENSP00000458663:p.Pro898fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.P898fs	p.P1807fs			Q96RK0	CIC_HUMAN			11	5484	+		Prostate(69;0.00682)	898					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5416delC	CCDS12601.1																																																																																				0.607	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	71						8	71	---	---	---	---	-	42795609	C	-	42795609	7	5	390	1	0	1	0	1	0	0	0	0	3424	507	18	0	2727	0	CIC	19	42795609	Frame_Shift_Del	DEL	C	TCGA-QH-A6CZ-01A-11D-A32B-08	3815	42795609	16333374	46	35016											
IRF3	3661	broad.mit.edu	37	chr19	50165556	50165556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagacttggcggccccGgtagaaggctgtcacctcga	14	12	1	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:50165556G>A	ENST00000597198.1	-	6	1012	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	IRF3_ENST00000377139.3_Missense_Mutation_p.R211W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W			Q14653	IRF3_HUMAN	interferon regulatory factor 3	211	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|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 type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGCGGCCCCGGTAGAAGGCT	0.667																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(631-633)Cgg>Tgg		interferon regulatory factor 3							40	45	43					19																	50165556		2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165556G>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.631C>T	19.37:g.50165556G>A	ENSP00000469113:p.Arg211Trp					IRF3_ENST00000377139.3_Missense_Mutation_p.R211W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W	p.R211W			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1012	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	211			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.631C>T	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.148763	0.78001	.	.	ENSG00000126456	ENST00000377139;ENST00000309877	D;D	0.95205	-3.64;-3.64	4.87	2.61	0.31194	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.84948	2.725	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;0.998;0.997	D	0.95681	0.8732	10	0.87932	D	0	-32.3776	7.1876	0.25809	0.0901:0.0:0.7418:0.1681	.	211;211;211;211	B2RAZ3;Q96GL3;Q7Z5G6;Q14653	.;.;.;IRF3_HUMAN	W	211	ENSP00000366344:R211W;ENSP00000310127:R211W	ENSP00000310127:R211W	R	-	1	2	IRF3	54857368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.530000	0.36007	1.280000	0.44463	0.651000	0.88453	CGG		0.667	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		5	50	0	0	0	1	0	5	50					A	50165556	G	A	50165556	3	1	390	1	0	0	0	0	1	0	0	0	7831	1115	39	1	664	1	IRF3	19	50165556	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	7369947	50165556	8963427	47	35017											
BRWD1	54014	broad.mit.edu	37	chr21	40604415	40604415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctctgctggagtcatccTccgcaaattctaccaagggg	10	12	3	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:40604415T>C	ENST00000333229.2	-	24	3103	c.2776A>G	c.(2776-2778)Agg>Ggg	p.R926G	BRWD1_ENST00000342449.3_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	926					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)				GGAGTCATCCTCCGCAAATTC	0.398																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				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						c.(2776-2778)Agg>Ggg		bromodomain and WD repeat domain containing 1							90	89	90					21																	40604415		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40604415T>C	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.2776A>G	21.37:g.40604415T>C	ENSP00000330753:p.Arg926Gly					BRWD1_ENST00000333229.2_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	p.R926G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			24	2854	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	926					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2776A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.624580	0.46840	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.57907	0.37;0.39;0.47	5.65	4.51	0.55191	.	0.280522	0.36591	N	0.002508	T	0.60379	0.2264	M	0.71581	2.175	0.80722	D	1	P;B	0.45348	0.856;0.016	P;B	0.52217	0.693;0.007	T	0.59397	-0.7462	10	0.42905	T	0.14	-2.2723	8.5816	0.33632	0.0:0.1469:0.0:0.8531	.	926;926	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	G	926	ENSP00000330753:R926G;ENSP00000344333:R926G;ENSP00000370178:R926G	ENSP00000330753:R926G	R	-	1	2	BRWD1	39526285	0.984000	0.35163	0.850000	0.33497	0.358000	0.29455	2.681000	0.46926	0.987000	0.38709	0.482000	0.46254	AGG		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		7	70	0	0	0	1	0	7	70					C	40604415	T	C	40604415	3	2	390	1	0	0	0	0	1	0	0	0	1525	1550	54	3	4501	3	BRWD1	21	40604415	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08		40604415	7525480	48	35018											
COL6A1	1291	broad.mit.edu	37	chr21	47412311	47412311	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggtgcccccggggagcGggtgagtggggcaggggcag	23	9	0	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:47412311G>A	ENST00000361866.3	+	18	1385	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	424	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGGGAGCGGGTGAGTGGG	0.657																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e18+1		collagen, type VI, alpha 1	Palifermin(DB00039)						29	34	32					21																	47412311		2201	4299	6500	SO:0001630	splice_region_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47412311G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1272+1G>A	21.37:g.47412311G>A							p.R424_splice	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	18	1385	+	all_hematologic(128;0.24)		424			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	c.1272_splice	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380822	0.61845	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.94184	-3.37	4.21	4.21	0.49690	.	0.295374	0.28958	N	0.013585	D	0.91553	0.7332	N	0.11201	0.11	0.58432	D	0.999993	D	0.89917	1.0	D	0.70227	0.968	D	0.89472	0.3744	10	0.17832	T	0.49	-2.2959	15.5835	0.76465	0.0:0.0:1.0:0.0	.	424	P12109	CO6A1_HUMAN	Q	424	ENSP00000355180:R424Q	ENSP00000355180:R424Q	R	+	2	0	COL6A1	46236739	0.972000	0.33761	0.996000	0.52242	0.433000	0.31745	1.031000	0.30165	1.905000	0.55150	0.467000	0.42956	CGG		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Missense_Mutation	13	14	0	0	0	1	0	13	14					A	47412311	G	A	47412311	5	1	390	1	0	0	0	0	0	0	1	0	3699	1130	39	1	1341	1	COL6A1	21	47412311	Splice_Site	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	6807896	47412311	717584	49	35019											
CSF2RA	1438	broad.mit.edu	37	chrX	1413280	1413280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgacgcactgcctcgtaCggtggaaacagcccaggacc	11	15	0	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chrX:1413280C>T	ENST00000381524.3	+	8	892	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	236	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CTGCCTCGTACGGTGGAAACA	0.592																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(706-708)Cgg>Tgg		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						372	300	325					X																	1413280		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413280C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.706C>T	X.37:g.1413280C>T	ENSP00000370935:p.Arg236Trp					CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W	p.R236W			P15509	CSF2R_HUMAN			8	892	+		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)	236					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.706C>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	7.567	0.665913	0.14710	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;T;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;0.82;-2.1;-2.1;-2.1;-2.1	1.54	0.502	0.16932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	7739.340000	0.01003	U	0.003703	T	0.76744	0.4030	.	.	.	0.09310	N	1	P;B;P;P;B	0.43477	0.519;0.164;0.519;0.808;0.164	B;B;B;B;B	0.26614	0.035;0.018;0.062;0.071;0.01	T	0.68640	-0.5355	9	0.87932	D	0	.	4.7486	0.13049	0.3636:0.6364:0.0:0.0	.	236;236;236;236;236	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	W	236;236;236;236;103;236;236;236;236;236;236	ENSP00000370940:R236W;ENSP00000416437:R236W;ENSP00000354836:R236W;ENSP00000440491:R103W;ENSP00000370935:R236W;ENSP00000410667:R236W;ENSP00000370920:R236W;ENSP00000347606:R236W;ENSP00000394227:R236W;ENSP00000370911:R236W	ENSP00000347606:R236W	R	+	1	2	CSF2RA	1373280	0.000000	0.05858	0.008000	0.14137	0.065000	0.16274	-0.208000	0.09371	-0.055000	0.13244	0.100000	0.15512	CGG		0.592	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			61	95	0	0	0	1	0	61	95					T	1413280	C	T	1413280	3	4	390	1	0	0	0	0	1	0	0	0	3934	527	19	1	728	1	CSF2RA	23	1413280	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		1413280	153857280	50	35020											
PHGDH	26227	broad.mit.edu	37	chr1	120277978	120277978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgtgtggtgaactgtgCccgtggagggatcgtggacg	20	7	0	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:120277978C>T	ENST00000369409.4	+	7	840	c.704C>T	c.(703-705)gCc>gTc	p.A235V	PHGDH_ENST00000369407.3_Missense_Mutation_p.A201V	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	235					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GTGAACTGTGCCCGTGGAGGG	0.617																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(601-603)gCc>gTc		phosphoglycerate dehydrogenase	NADH(DB00157)						99	101	100					1																	120277978		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277978C>T	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.704C>T	1.37:g.120277978C>T	ENSP00000358417:p.Ala235Val					PHGDH_ENST00000369409.4_Missense_Mutation_p.A235V	p.A201V			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	6	2109	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	235					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.602C>T	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	36	5.601639	0.96614	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	D;D	0.88124	-2.34;-2.34	5.23	5.23	0.72850	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96491	0.8855	H	0.99336	4.52	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;0.999;0.999	D	0.98329	1.0532	10	0.87932	D	0	-21.1664	17.3551	0.87333	0.0:1.0:0.0:0.0	.	107;201;201;108;235	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	V	235;108;67;201	ENSP00000358417:A235V;ENSP00000358415:A201V	ENSP00000358415:A201V	A	+	2	0	PHGDH	120079501	1.000000	0.71417	0.444000	0.26895	0.889000	0.51656	5.671000	0.68095	2.459000	0.83118	0.655000	0.94253	GCC		0.617	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		4	105	0	0	0	1	0	4	105					T	120277978	C	T	120277978	3	4	391	1	0	0	0	0	1	0	0	0	11841	739	26	2	730	2	PHGDH	1	120277978	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		120277978	128972643	1	35021											
HMCN1	83872	broad.mit.edu	37	chr1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttatcgctgtgtggtccGttgtggaagtggctttcgaa	13	7	1	0	rs150494959	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.R5176H(1)		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						TGTGTGGTCCGTTGTGGAAGT	0.463													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			1	Substitution - Missense(1)	p.R5176H(1)	kidney(1)	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						c.(15526-15528)cGt>cAt		hemicentin 1		G	HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	225	192	203		15527	-10.8	0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	29	0,11,6492	AA,AG,GG		0.0233,0.2043,0.0846	benign	5176/5636	186136027	11,12995	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186136027G>A	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.15527G>A	1.37:g.186136027G>A	ENSP00000271588:p.Arg5176His					HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			100	15756	+			5176			EGF-like 2; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.15527G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990593	0.18966	0.002043	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.87412	-2.25;-2.25	5.39	-10.8	0.00216	EGF-like calcium-binding (2);	0.402712	0.27764	N	0.017956	T	0.72716	0.3495	L	0.33093	0.98	0.09310	N	0.999995	B	0.13594	0.008	B	0.10450	0.005	T	0.48091	-0.9065	10	0.19147	T	0.46	.	13.2854	0.60241	0.657:0.0807:0.2623:0.0	.	5176	Q96RW7	HMCN1_HUMAN	H	5176	ENSP00000271588:R5176H;ENSP00000356462:R5176H	ENSP00000271588:R5176H	R	+	2	0	HMCN1	184402650	0.003000	0.15002	0.000000	0.03702	0.444000	0.32077	0.271000	0.18626	-2.778000	0.00362	-1.170000	0.01741	CGT		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		28	38	0	0	0	1	0	28	38					A	186136027	G	A	186136027	3	1	391	1	0	0	0	0	1	0	0	0	7220	1145	40	1	15925	1	HMCN1	1	186136027	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	65858049	186136027	63114594	2	35022											
C2orf29	55571	broad.mit.edu	37	chr2	101874343	101874343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttcaaaaagacgcctcGccagattgcactgatggacg	9	12	2	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:101874343G>A	ENST00000289382.3	+	2	768	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	202					cell proliferation (GO:0008283)|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 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)|cytosol (GO:0005829)|nucleus (GO:0005634)											AAGACGCCTCGCCAGATTGCA	0.493																																						ENST00000289382.3																			0											c.(604-606)cGc>cAc		CCR4-NOT transcription complex, subunit 11							98	87	90					2																	101874343		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101874343G>A	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.605G>A	2.37:g.101874343G>A	ENSP00000289382:p.Arg202His						p.R202H	NM_017546.4	NP_060016.3					2	768	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.605G>A	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265623	0.80358	.	.	ENSG00000158435	ENST00000289382	T	0.35421	1.31	6.14	6.14	0.99180	.	0.256370	0.39274	N	0.001418	T	0.53254	0.1785	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.34304	-0.9834	10	0.37606	T	0.19	-14.9544	20.8597	0.99761	0.0:0.0:1.0:0.0	.	202	Q9UKZ1	CB029_HUMAN	H	202	ENSP00000289382:R202H	ENSP00000289382:R202H	R	+	2	0	C2orf29	101240775	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.581000	0.98210	2.937000	0.99478	0.650000	0.86243	CGC		0.493	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		23	30	0	0	0	1	0	23	30					A	101874343	G	A	101874343	3	1	391	1	0	0	0	0	1	0	0	0	2161	1087	38	1	611	1	C2orf29	2	101874343	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		101874343	141325030	3	35023											
MYO3B	140469	broad.mit.edu	37	chr2	171262117	171262117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggagtggaactgtgcTttggcattcagcattatgct	11	8	1	0			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:171262117T>C	ENST00000408978.4	+	21	2637	c.2494T>C	c.(2494-2496)Ttt>Ctt	p.F832L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L|MYO3B_ENST00000334231.6_Missense_Mutation_p.F841L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	832	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						GGAACTGTGCTTTGGCATTCA	0.418																																						ENST00000334231.6																			0				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						c.(2521-2523)Ttt>Ctt		myosin IIIB							115	108	110					2																	171262117		1907	4133	6040	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171262117T>C		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.2494T>C	2.37:g.171262117T>C	ENSP00000386213:p.Phe832Leu					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.F832L|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L	p.F841L			Q8WXR4	MYO3B_HUMAN			21	2521	+			832			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.2521T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	34	5.336133	0.95758	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92247	0.7541	M	0.93939	3.475	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94170	0.7422	10	0.87932	D	0	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	832;832;832	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	L	832;832;831;841;841	ENSP00000386497:F832L;ENSP00000386213:F832L;ENSP00000446237:F841L;ENSP00000335100:F841L	ENSP00000314213:F831L	F	+	1	0	MYO3B	170970363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.942000	0.87708	2.219000	0.72066	0.533000	0.62120	TTT		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			4	50	0	0	0	1	0	4	50					C	171262117	T	C	171262117	3	2	391	1	0	0	0	0	1	0	0	0	10077	1609	56	3	2576	3	MYO3B	2	171262117	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08	69387774	171262117	71937256	4	35024											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	32	0	0	0	1	0	23	32					T	209113112	C	T	209113112	3	4	391	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	37850995	209113112	34086261	5	35025											
BTD	686	broad.mit.edu	37	chr3	15686469	15686469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaattttgtcaggcgatcCgtactgtgagaaggatgctc	11	7	1	1	rs397514400		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:15686469C>T	ENST00000303498.5	+	4	1215	c.1106C>T	c.(1105-1107)cCg>cTg	p.P369L	BTD_ENST00000437172.1_Missense_Mutation_p.P371L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L|BTD_ENST00000383778.4_Missense_Mutation_p.P349L	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	369					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TCAGGCGATCCGTACTGTGAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20660	0.0		0.0	False		,,,				2504	0.0					ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18	GRCh37	CM024508	BTD	M		c.(1045-1047)cCg>cTg		biotinidase							109	107	108					3																	15686469		2203	4300	6503	SO:0001583	missense	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15686469C>T	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1106C>T	3.37:g.15686469C>T	ENSP00000306477:p.Pro369Leu					BTD_ENST00000303498.5_Missense_Mutation_p.P369L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L|BTD_ENST00000437172.1_Missense_Mutation_p.P371L	p.P349L			P43251	BTD_HUMAN			4	1404	+			369			CN hydrolase.		A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	ENST00000303498.5	37	c.1046C>T	CCDS2628.1	.	.	.	.	.	.	.	.	.	.	C	8.047	0.765072	0.15914	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.05	3.18	0.36537	.	0.737323	0.13548	N	0.379718	T	0.74512	0.3726	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.08055	0.003;0.003;0.003	T	0.61710	-0.7007	10	0.48119	T	0.1	-37.1203	1.8787	0.03223	0.2522:0.4593:0.1251:0.1635	.	371;371;369	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	L	371;369;371;349	ENSP00000388212:P371L;ENSP00000306477:P369L;ENSP00000400995:P371L;ENSP00000373288:P349L	ENSP00000306477:P369L	P	+	2	0	BTD	15661473	0.000000	0.05858	0.013000	0.15412	0.608000	0.37181	0.295000	0.19065	1.376000	0.46267	0.561000	0.74099	CCG		0.468	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		4	109	0	0	0	1	0	4	109					T	15686469	C	T	15686469	3	4	391	1	0	0	0	0	1	0	0	0	1550	652	23	1	1120	1	BTD	3	15686469	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		15686469	182335961	6	35026											
CCDC110	256309	broad.mit.edu	37	chr4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatctgtaatatttttgCcagtgatgggaatttcttta	7	4	2	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1093-1095)gGc>gAc		coiled-coil domain containing 110							138	145	142					4																	186380647		2203	4299	6502	SO:0001583	missense	256309					nucleus		g.chr4:186380647C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1094G>A	4.37:g.186380647C>T	ENSP00000306776:p.Gly365Asp					CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D|CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D	p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1169	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	365					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1094G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.267	-0.995739	0.02145	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.05855	3.38;3.39;3.39	4.83	1.06	0.20224	.	1.031690	0.07655	N	0.932585	T	0.03695	0.0105	N	0.13043	0.29	0.20926	N	0.999826	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.47947	-0.9077	10	0.12430	T	0.62	0.6331	6.5267	0.22305	0.0:0.5718:0.0:0.4282	.	365;328;365	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	D	328;365;365	ENSP00000377172:G328D;ENSP00000306776:G365D;ENSP00000427246:G365D	ENSP00000306776:G365D	G	-	2	0	CCDC110	186617641	0.132000	0.22450	0.656000	0.29637	0.835000	0.47333	0.220000	0.17660	0.317000	0.23160	0.650000	0.86243	GGC		0.323	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		4	124	0	0	0	1	0	4	124					T	186380647	C	T	186380647	3	4	391	1	0	0	0	0	1	0	0	0	2747	739	26	2	1415	2	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		186380647	4773629	7	35027											
TRIML1	339976	broad.mit.edu	37	chr4	189060901	189060901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaccttggagggcccGcatttccagtcaaacgagcg	14	11	1	0	rs147444946	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602													G|||	4	0.000798722	0.003	0.0	5008	,	,		18184	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(187-189)ccG>ccA		tripartite motif family-like 1		G		5,4401	9.9+/-24.2	0,5,2198	83	88	86		189	-11.2	0	4	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	TRIML1	NM_178556.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		63/469	189060901	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060901G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.189G>A	4.37:g.189060901G>A							p.P63P	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	329	+		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	63					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.189G>A	CCDS3851.1																																																																																				0.602	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		6	113	0	0	0	1	0	6	113					A	189060901	G	A	189060901	2	1	391	1	0	0	0	0	0	0	0	1	16547	1074	38	1		1	TRIML1	4	189060901	Silent	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	2680254	189060901	2093375	8	35028											
MAP3K5	4217	broad.mit.edu	37	chr6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttcccattttagtttcGgttcttcagccccctgtgaa	8	11	2	1	rs199742266	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:136904865G>A	ENST00000359015.4	-	24	3599	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L|MAP3K5_ENST00000463140.1_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1080					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)		TTTTAGTTTCGGTTCTTCAGC	0.453													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18177	0.0		0.0	False		,,,				2504	0.0					ENST00000359015.4																			0				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						c.(3238-3240)cCg>cTg		mitogen-activated protein kinase kinase kinase 5		G	LEU/PRO	0,4406		0,0,2203	164	149	154		3239	5	1	6		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP3K5	NM_005923.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1080/1375	136904865	1,13005	2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136904865G>A	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.3239C>T	6.37:g.136904865G>A	ENSP00000351908:p.Pro1080Leu					MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L	p.P1080L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	24	3599	-	Colorectal(23;0.24)		1080					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3239C>T	CCDS5179.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.141	-0.649511	0.03506	0.0	1.16E-4	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.68765	-0.21;-0.35	5.86	4.99	0.66335	.	0.324362	0.33382	N	0.004974	T	0.27489	0.0675	N	0.05158	-0.105	0.43122	D	0.994843	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.11867	-1.0570	10	0.21014	T	0.42	.	12.7135	0.57102	0.0754:0.0:0.9246:0.0	.	1161;1080	Q59GL6;Q99683	.;M3K5_HUMAN	L	1080;327;1160	ENSP00000351908:P1080L;ENSP00000348104:P327L	ENSP00000348104:P327L	P	-	2	0	MAP3K5	136946558	1.000000	0.71417	0.951000	0.38953	0.337000	0.28794	4.899000	0.63245	2.770000	0.95276	0.655000	0.94253	CCG		0.453	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			6	94	0	0	0	1	0	6	94					A	136904865	G	A	136904865	3	1	391	1	0	0	0	0	1	0	0	0	9253	1116	39	1	913	1	MAP3K5	6	136904865	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		136904865	34210202	9	35029											
ZNF716	441234	broad.mit.edu	37	chr7	57522851	57522851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccagaatataaagagaaAtgagatggtagccaaacacc	9	9	0	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:57522851A>G	ENST00000420713.1	+	3	351	c.239A>G	c.(238-240)aAt>aGt	p.N80S		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	80	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)|kidney(1)|lung(20)|ovary(2)	24						ATAAAGAGAAATGAGATGGTA	0.408																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(238-240)aAt>aGt		zinc finger protein 716							96	76	82					7																	57522851		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522851A>G	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.239A>G	7.37:g.57522851A>G	ENSP00000394248:p.Asn80Ser						p.N80S	NM_001159279.1	NP_001152751.1					3	351	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.239A>G	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589796	0.28357	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.04862	3.54	0.793	0.793	0.18632	Krueppel-associated box (1);	.	.	.	.	T	0.03651	0.0104	N	0.13235	0.315	0.21184	N	0.999767	B	0.17038	0.02	B	0.15052	0.012	T	0.41556	-0.9502	9	0.59425	D	0.04	.	3.8266	0.08856	1.0:0.0:0.0:0.0	.	68	A6NP11	ZN716_HUMAN	S	80;68	ENSP00000394248:N80S	ENSP00000387687:N68S	N	+	2	0	ZNF716	57526793	0.004000	0.15560	0.650000	0.29550	0.651000	0.38670	0.415000	0.21181	0.243000	0.21327	0.240000	0.17902	AAT		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		5	91	0	0	0	1	0	5	91					G	57522851	A	G	57522851	3	3	391	1	0	0	0	0	1	0	0	0	18116	101	4	3	249	3	ZNF716	7	57522851	Missense_Mutation	SNP	A	TCGA-QH-A6X3-01A-21D-A32B-08		57522851	101615812	10	35030											
MLL3	58508	broad.mit.edu	37	chr7	151878079	151878079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagatggggaaacaCggctaaatgtgtctgaaaga	15	6	1	3	rs202108375		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:151878079C>T	ENST00000262189.6	-	36	7084	c.6866G>A	c.(6865-6867)cGt>cAt	p.R2289H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2289H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2289					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)										TGGGGAAACACGGCTAAATGT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21058	0.0		0.0	False		,,,				2504	0.0					ENST00000355193.2																			0											c.(6865-6867)cGt>cAt		lysine (K)-specific methyltransferase 2C							104	105	104					7																	151878079		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878079C>T	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.6866G>A	7.37:g.151878079C>T	ENSP00000262189:p.Arg2289His					KMT2C_ENST00000262189.6_Missense_Mutation_p.R2289H	p.R2289H							36	7084	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6866G>A	CCDS5931.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.834	0.523014	0.13066	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.7	5.09	-0.876	0.10624	.	0.487586	0.15266	N	0.271514	T	0.62245	0.2412	N	0.05124	-0.11	0.49483	D	0.999798	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.42999	-0.9418	10	0.30854	T	0.27	.	9.7695	0.40580	0.0:0.2196:0.0:0.7804	.	2289;1350	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	2289	ENSP00000262189:R2289H;ENSP00000347325:R2289H	ENSP00000262189:R2289H	R	-	2	0	MLL3	151509012	0.089000	0.21612	0.000000	0.03702	0.826000	0.46750	0.246000	0.18160	-0.024000	0.13941	0.655000	0.94253	CGT		0.517	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	71	0	0	0	1	0	21	71					T	151878079	C	T	151878079	3	4	391	1	0	0	0	0	1	0	0	0	9622	536	19	1	7965	1	MLL3	7	151878079	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	94355228	151878079	7260584	11	35031											
ADAM7	8756	broad.mit.edu	37	chr8	24323222	24323222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctattttaggatcattgttTttaccaaggatccatagtac	6	7	2	0			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr8:24323222T>C	ENST00000175238.6	+	5	406	c.323T>C	c.(322-324)tTt>tCt	p.F108S	ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	108						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)		GATCATTGTTTTTACCAAGGA	0.284																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(322-324)tTt>tCt		ADAM metallopeptidase domain 7							109	101	104					8																	24323222		2203	4299	6502	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24323222T>C	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.323T>C	8.37:g.24323222T>C	ENSP00000175238:p.Phe108Ser					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S|ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S	p.F108S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	5	406	+		Prostate(55;0.0181)	108					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.323T>C	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343989	0.41498	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.07114	3.22;3.22;3.22	4.67	3.42	0.39159	Peptidase M12B, propeptide (1);	0.129491	0.36167	N	0.002760	T	0.29158	0.0725	M	0.88570	2.965	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.966;0.998	T	0.02925	-1.1093	10	0.66056	D	0.02	.	7.0969	0.25315	0.2005:0.0:0.0:0.7995	.	108;108	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	S	108	ENSP00000393073:F108S;ENSP00000175238:F108S;ENSP00000370166:F108S	ENSP00000175238:F108S	F	+	2	0	ADAM7	24379112	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	1.225000	0.32551	2.080000	0.62538	0.460000	0.39030	TTT		0.284	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		17	24	0	0	0	1	0	17	24					C	24323222	T	C	24323222	3	2	391	1	0	0	0	0	1	0	0	0	251	1841	64	3	341	3	ADAM7	8	24323222	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		24323222	122040800	12	35032											
FAM129B	64855	broad.mit.edu	37	chr9	130294013	130294013	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagagccacgccatactggtCttcatagaactggaggaact	11	10	2	2			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:130294013C>G	ENST00000373312.3	-	2	313	c.100G>C	c.(100-102)Gac>Cac	p.D34H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	34					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCATACTGGTCTTCATAGAAC	0.577																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(100-102)Gac>Cac		family with sequence similarity 129, member B							97	85	89					9																	130294013		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130294013C>G	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.100G>C	9.37:g.130294013C>G	ENSP00000362409:p.Asp34His					FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H|FAM129B_ENST00000468379.1_5'UTR	p.D34H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			2	313	-			34					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.100G>C	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.971432	0.74246	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.23147	1.92;1.93	4.88	4.88	0.63580	.	0.250630	0.40302	N	0.001125	T	0.36717	0.0977	L	0.44542	1.39	0.43010	D	0.994545	D;D	0.59357	0.985;0.985	P;P	0.55303	0.773;0.773	T	0.11299	-1.0593	10	0.62326	D	0.03	-49.7004	15.5765	0.76392	0.0:1.0:0.0:0.0	.	21;34	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	21;34	ENSP00000362411:D21H;ENSP00000362409:D34H	ENSP00000362409:D34H	D	-	1	0	FAM129B	129333834	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.777000	0.55364	2.539000	0.85634	0.556000	0.70494	GAC		0.577	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		5	63	0	0	0	1	0	5	63					G	130294013	C	G	130294013	3	3	391	1	0	0	0	0	1	0	0	0	5437	913	32	4	2192	4	FAM129B	9	130294013	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		130294013	10919418	13	35033											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-													gccatggggacactcgcagtAgaaggaggccacacggtcat							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; 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)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	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						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	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.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	17						8	17	---	---	---	---	-	139413072	AGA	-	139413070	7	5	391	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-QH-A6X3-01A-21D-A32B-08	9119057	139413070	1800361	14	35034											
PTEN	5728	broad.mit.edu	37	chr10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgttagcagaaacaaaaggaGatatcaagaggatggattcg	12	5	1	3	rs398123324		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> S (in glioma). {ECO:0000269|PubMed:9090379}.		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.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(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)		AACAAAAGGAGATATCAAGAG	0.478		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		58	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(4)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|endometrium(4)|ovary(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|urinary_tract(1)|kidney(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						c.(43-45)aGa>aCa		phosphatase and tensin homolog							186	177	180					10																	89624270		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624270G>C	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.44G>C	10.37:g.89624270G>C	ENSP00000361021:p.Arg15Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R15T	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	1	1401	+		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)	15		R -> S (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.44G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831215	0.91036	.	.	ENSG00000171862	ENST00000371953	D	0.95980	-3.87	5.05	5.05	0.67936	Phosphatase tensin type (1);	0.105614	0.64402	D	0.000007	D	0.96839	0.8968	H	0.95611	3.695	0.80722	D	1	P	0.36065	0.535	B	0.37346	0.247	D	0.97558	1.0096	9	.	.	.	-0.232	17.1609	0.86803	0.0:0.0:1.0:0.0	.	15	P60484	PTEN_HUMAN	T	15	ENSP00000361021:R15T	.	R	+	2	0	PTEN	89614250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.335000	0.79485	0.561000	0.74099	AGA		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		3	68	0	0	0	1	0	3	68					C	89624270	G	C	89624270	3	2	391	1	0	0	0	0	1	0	0	0	12738	942	33	4	46	4	PTEN	10	89624270	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		89624270	45910477	15	35035											
TRIM3	10612	broad.mit.edu	37	chr11	6486802	6486804	+	In_Frame_Del	DEL	AGA	AGA	-													cacatcccctcacctctcacAgaaggtgtgcaggcaaggaa							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:6486802_6486804delAGA	ENST00000525074.1	-	2	516_518	c.122_124delTCT	c.(121-126)ttctgt>tgt	p.F41del	TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000359518.3_In_Frame_Del_p.F41del|TRIM3_ENST00000345851.3_In_Frame_Del_p.F41del|TRIM3_ENST00000537602.1_In_Frame_Del_p.F41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	41					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTCTCACAGAAGGTGTGCAG	0.596																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(121-126)tgt>t		tripartite motif containing 3																																				SO:0001651	inframe_deletion	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6486802_6486804delAGA	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.122_124delTCT	11.37:g.6486802_6486804delAGA	ENSP00000433102:p.Phe41del					TRIM3_ENST00000537602.1_In_Frame_Del_p.FC41del|TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000345851.3_In_Frame_Del_p.FC41del|TRIM3_ENST00000359518.3_In_Frame_Del_p.FC41del	p.FC41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	516_518	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	41					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	In_Frame_Del	DEL	ENST00000525074.1	37	c.122_124delTCT	CCDS7764.1																																																																																				0.596	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		9	88						9	88	---	---	---	---	-	6486804	AGA	-	6486802	7	5	391	1	0	1	0	1	0	0	0	0	16501	188	7	0	2154	0	TRIM3	11	6486802	In_Frame_Del	DEL	AGA	TCGA-QH-A6X3-01A-21D-A32B-08		6486802	128519714	16	35036											
FOLH1	2346	broad.mit.edu	37	chr11	49179513	49179513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttgtttacctgggcatgCcactgaactctggggaagga	12	9	1	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:49179513C>T	ENST00000256999.2	-	14	1783	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	FOLH1_ENST00000340334.7_Missense_Mutation_p.G493D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D|FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	508	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CCTGGGCATGCCACTGAACTC	0.348																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1477-1479)gGc>gAc		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						70	71	71					11																	49179513		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49179513C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1523G>A	11.37:g.49179513C>T	ENSP00000256999:p.Gly508Asp					FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000256999.2_Missense_Mutation_p.G508D|FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D	p.G493D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			15	1846	-			508			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1478G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	4.526	0.097578	0.08681	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	3.29	1.36	0.22044	.	0.238121	0.29868	N	0.010997	T	0.17152	0.0412	N	0.10874	0.06	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.23154	-1.0196	10	0.09590	T	0.72	.	5.4753	0.16692	0.0:0.6145:0.0:0.3855	.	493;493;508;508	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	D	508;508;493;200;493;511	ENSP00000256999:G508D;ENSP00000349129:G508D;ENSP00000344131:G493D;ENSP00000344086:G200D;ENSP00000431463:G493D	ENSP00000256999:G508D	G	-	2	0	FOLH1	49136089	0.000000	0.05858	0.009000	0.14445	0.841000	0.47740	0.111000	0.15458	0.229000	0.21039	0.411000	0.27672	GGC		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		3	50	0	0	0	1	0	3	50					T	49179513	C	T	49179513	3	4	391	1	0	0	0	0	1	0	0	0	5979	739	26	2	753	2	FOLH1	11	49179513	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	42692711	49179513	85827003	17	35037											
OR5D14	219436	broad.mit.edu	37	chr11	55563199	55563199	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatcaagattaaccccaaAtttcacactcctatgtactt	2	11	2	1	rs367818795		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:55563199A>G	ENST00000335605.1	+	1	168	c.168A>G	c.(166-168)aaA>aaG	p.K56K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	56						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)				TTAACCCCAAATTTCACACTC	0.388																																						ENST00000335605.1																			0				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						c.(166-168)aaA>aaG		olfactory receptor, family 5, subfamily D, member 14		A		0,4400		0,0,2200	229	211	217		168	1.3	0.2	11		217	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5D14	NM_001004735.1		0,1,6495	GG,GA,AA		0.0116,0.0,0.0077		56/315	55563199	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563199A>G	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.168A>G	11.37:g.55563199A>G							p.K56K	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	168	+		all_epithelial(135;0.196)	56					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.168A>G	CCDS31508.1																																																																																				0.388	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		4	76	0	0	0	1	0	4	76					G	55563199	A	G	55563199	2	3	391	1	0	0	0	0	0	0	0	1	11155	98	4	3		3	OR5D14	11	55563199	Silent	SNP	A	TCGA-QH-A6X3-01A-21D-A32B-08	6383686	55563199	79443317	18	35038											
MYO7A	4647	broad.mit.edu	37	chr11	76903174	76903174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgccaaggagcagggcGcccaggagcgcaacgccccc	14	16	0	0	rs375066152		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:76903174G>A	ENST00000409709.3	+	31	4275	c.4003G>A	c.(4003-4005)Gcc>Acc	p.A1335T	MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1335	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGCAGGGCGCCCAGGAGCG	0.662											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4003-4005)Gcc>Acc		myosin VIIA		G	THR/ALA,THR/ALA	0,4224		0,0,2112	52	62	59		4003,4003	4.6	1	11		59	1,8417		0,1,4208	no	missense,missense	MYO7A	NM_000260.3,NM_001127180.1	58,58	0,1,6320	AA,AG,GG		0.0119,0.0,0.0079	benign,benign	1335/2216,1335/2176	76903174	1,12641	2112	4209	6321	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76903174G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4003G>A	11.37:g.76903174G>A	ENSP00000386331:p.Ala1335Thr		OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T	p.A1335T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			31	4275	+			1335			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4003G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481624	0.84747	0.0	1.19E-4	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.62	4.62	0.57501	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.45581	1.43	0.80722	D	1	D;P;D	0.89917	0.975;0.926;1.0	P;P;D	0.81914	0.894;0.476;0.995	T	0.78545	-0.2163	10	0.23891	T	0.37	.	17.4596	0.87617	0.0:0.0:1.0:0.0	.	1324;1335;1335	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1335;1335;1324;546;1334;1304;1211;516	ENSP00000386331:A1335T;ENSP00000392185:A1335T;ENSP00000386635:A1324T;ENSP00000417017:A516T	ENSP00000345075:A1211T	A	+	1	0	MYO7A	76580822	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.422000	0.73357	2.105000	0.64084	0.471000	0.43371	GCC		0.662	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		14	16	0	0	0	1	0	14	16					A	76903174	G	A	76903174	3	1	391	1	0	0	0	0	1	0	0	0	10082	1087	38	1	4155	1	MYO7A	11	76903174	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	21339975	76903174	58103342	19	35039											
KCNA1	3736	broad.mit.edu	37	chr12	5021170	5021170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgcatcgacaacaccaCggtcatctacaattccaaca	4	17	2	0			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr12:5021170C>T	ENST00000382545.3	+	2	1733	c.626C>T	c.(625-627)aCg>aTg	p.T209M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	209					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GACAACACCACGGTCATCTAC	0.542																																						ENST00000382545.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(625-627)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						117	92	100					12																	5021170		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021170C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.626C>T	12.37:g.5021170C>T	ENSP00000371985:p.Thr209Met					KCNA1_ENST00000543874.2_Intron	p.T209M	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1733	+			209					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.626C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226807	0.22542	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.69926	-0.44	4.86	4.86	0.63082	.	1.726710	0.03032	N	0.152282	D	0.84374	0.5458	M	0.93106	3.38	0.58432	D	0.999997	D	0.55605	0.972	P	0.50378	0.639	T	0.78229	-0.2285	10	0.59425	D	0.04	.	17.5143	0.87769	0.0:1.0:0.0:0.0	.	209	Q09470	KCNA1_HUMAN	M	209	ENSP00000371985:T209M	ENSP00000228858:T209M	T	+	2	0	KCNA1	4891431	1.000000	0.71417	0.969000	0.41365	0.095000	0.18619	4.716000	0.61916	2.676000	0.91093	0.655000	0.94253	ACG		0.542	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		32	28	0	0	0	1	0	32	28					T	5021170	C	T	5021170	3	4	391	1	0	0	0	0	1	0	0	0	8001	536	19	1	628	1	KCNA1	12	5021170	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		5021170	128830725	20	35040											
KLHL1	57626	broad.mit.edu	37	chr13	70293517	70293517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttctacataatccaGtagccgggaacagtgatttg	8	9	1	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr13:70293517G>T	ENST00000377844.4	-	9	2758	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	667					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)		ACATAATCCAGTAGCCGGGAA	0.463																																						ENST00000377844.4																			0				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						c.(1999-2001)Ctg>Atg		kelch-like family member 1							109	105	106					13																	70293517		2203	4299	6502	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293517G>T	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.1999C>A	13.37:g.70293517G>T	ENSP00000367075:p.Leu667Met					KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	p.L667M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2758	-		Breast(118;0.000162)	667					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1999C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125288	0.56721	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.81579	-1.51;-1.51	5.82	3.76	0.43208	Galactose oxidase, beta-propeller (1);	1.779740	0.03426	N	0.207057	D	0.86690	0.5993	L	0.54323	1.7	0.29162	N	0.877675	D;D	0.64830	0.994;0.988	D;D	0.63033	0.91;0.91	T	0.69587	-0.5105	10	0.46703	T	0.11	.	8.4894	0.33091	0.3039:0.0:0.6961:0.0	.	667;667	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	M	667;474	ENSP00000367075:L667M;ENSP00000439602:L474M	ENSP00000367075:L667M	L	-	1	2	KLHL1	69191518	1.000000	0.71417	0.624000	0.29186	0.864000	0.49448	3.687000	0.54692	1.385000	0.46445	0.561000	0.74099	CTG		0.463	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		28	40	1	0	1.55811e-20	1	1.60139e-20	28	40					T	70293517	G	T	70293517	3	4	391	1	0	0	0	0	1	0	0	0	8365	1020	36	4	259	4	KLHL1	13	70293517	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		70293517	44876361	21	35041											
POTEG	404785	broad.mit.edu	37	chr14	19553596	19553596	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgaagacactcaggagcaaGatgggcaagtggtgccgcca	14	9	1	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr14:19553596G>C	ENST00000409832.3	+	1	232	c.180G>C	c.(178-180)aaG>aaC	p.K60N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	60										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGAGCAAGATGGGCAAGT	0.612																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(178-180)aaG>aaC		POTE ankyrin domain family, member G							118	164	148					14																	19553596		2199	4288	6487	SO:0001583	missense	404785							g.chr14:19553596G>C		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.180G>C	14.37:g.19553596G>C	ENSP00000386971:p.Lys60Asn						p.K60N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	232	+			60					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.180G>C	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	9.771	1.172775	0.21704	.	.	ENSG00000222036	ENST00000409832	T	0.38240	1.15	.	.	.	.	.	.	.	.	T	0.31071	0.0785	L	0.61218	1.895	0.09310	N	1	P	0.48089	0.905	B	0.40901	0.343	T	0.15464	-1.0436	7	0.38643	T	0.18	.	.	.	.	.	60	Q6S5H5	POTEG_HUMAN	N	60	ENSP00000386971:K60N	ENSP00000386971:K60N	K	+	3	2	POTEG	18623596	0.003000	0.15002	0.025000	0.17156	0.025000	0.11179	0.488000	0.22371	0.162000	0.19483	0.165000	0.16767	AAG		0.612	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		10	841	0	0	0	1	0	10	841					C	19553596	G	C	19553596	3	2	391	1	0	0	0	0	1	0	0	0	12266	933	33	4	182	4	POTEG	14	19553596	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		19553596	87795944	22	35042											
NEDD4	4734	broad.mit.edu	37	chr15	56142778	56142778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtggtcaataaagaaagGcctcccatttggtgcatgcc	11	9	1	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:56142778G>A	ENST00000508342.1	-	10	2865	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	856	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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)		ATAAAGAAAGGCCTCCCATTT	0.428																																						ENST00000508342.1																			0				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						c.(2566-2568)Cct>Tct		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							196	211	206					15																	56142778		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142778G>A	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.2566C>T	15.37:g.56142778G>A	ENSP00000424827:p.Pro856Ser					NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S	p.P856S			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2865	-			856			Mediates interaction with TNIK (By similarity).|WW 3.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2566C>T		.	.	.	.	.	.	.	.	.	.	G	17.11	3.306221	0.60305	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.45	5.45	0.79879	WW/Rsp5/WWP (6);	0.353337	0.36893	N	0.002352	D	0.88789	0.6532	L	0.47078	1.49	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.22;0.236;0.364	D;B;P;B	0.76575	0.988;0.295;0.47;0.341	D	0.89015	0.3431	10	0.62326	D	0.03	.	18.6111	0.91285	0.0:0.0:1.0:0.0	.	840;437;856;784	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	S	856;437;784;840	ENSP00000424827:P856S;ENSP00000410613:P437S;ENSP00000345530:P784S;ENSP00000422705:P840S	ENSP00000345530:P784S	P	-	1	0	NEDD4	53930070	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	7.800000	0.85949	2.712000	0.92718	0.557000	0.71058	CCT		0.428	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		16	242	0	0	0	1	0	16	242					A	56142778	G	A	56142778	3	1	391	1	0	0	0	0	1	0	0	0	10310	1203	42	2	1457	2	NEDD4	15	56142778	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		56142778	46388614	23	35043											
RORA	6095	broad.mit.edu	37	chr15	61521357	61521357	+	Frame_Shift_Del	DEL	C	C	-													cctggagccggcggccgcgtCcgcgccgctgctgcctggct					rs199719960		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:61521357delC	ENST00000335670.6	-	1	161	c.61delG	c.(61-63)gacfs	p.D21fs		NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	21					angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|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)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCGGCCGCGTCCGCGCCGCTG	0.692																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(61-63)acfs		RAR-related orphan receptor A							4	5	5					15																	61521357		1945	3794	5739	SO:0001589	frameshift_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:61521357delC	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.61delG	15.37:g.61521357delC	ENSP00000335087:p.Asp21fs						p.D21fs	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			1	161	-			0			Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Frame_Shift_Del	DEL	ENST00000335670.6	37	c.61delG	CCDS10177.1																																																																																				0.692	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			2	4						2	4	---	---	---	---	-	61521357	C	-	61521357	7	5	391	1	0	1	0	1	0	0	0	0	13528	855	30	0	2034	0	RORA	15	61521357	Frame_Shift_Del	DEL	C	TCGA-QH-A6X3-01A-21D-A32B-08	5378579	61521357	41010035	24	35044											
WWP2	11060	broad.mit.edu	37	chr16	69833165	69833166	+	Frame_Shift_Del	DEL	CT	CT	-													taggcaccgcatctgtcaacCtctccaacgtcttgaagaac							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr16:69833165_69833166delCT	ENST00000359154.2	+	4	408_409	c.307_308delCT	c.(307-309)ctcfs	p.L103fs	WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	103					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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 transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTGTCAACCTCTCCAACGTC	0.49											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(307-309)cfs		WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69833165_69833166delCT	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.307_308delCT	16.37:g.69833167_69833168delCT	ENSP00000352069:p.Leu103fs		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs	p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			4	408_409	+			103					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Del	DEL	ENST00000359154.2	37	c.307_308delCT	CCDS10885.1																																																																																				0.49	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		27	47						27	47	---	---	---	---	-	69833166	CT	-	69833165	7	5	391	1	0	1	0	1	0	0	0	0	17413	681	24	0	317	0	WWP2	16	69833165	Frame_Shift_Del	DEL	CT	TCGA-QH-A6X3-01A-21D-A32B-08		69833165	20521588	25	35045											
TP53	7157	broad.mit.edu	37	chr17	7579319	7579323	+	Frame_Shift_Del	DEL	GTCAC	GTCAC	-													cagggcaactgaccgtgcaaGtcacagacttggctgtccca					rs587781495|rs587780067		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:7579319_7579323delGTCAC	ENST00000269305.4	-	4	553_557	c.364_368delGTGAC	c.(364-369)gtgactfs	p.VT122fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (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.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)	GACCGTGCAAGTCACAGACTTGGCT	0.551		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		26	Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Missense(2)|Deletion - In frame(2)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|urinary_tract(1)|liver(1)|ovary(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	GRCh37	CM065494	TP53	M		c.(364-369)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579319_7579323delGTCAC	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.364_368delGTGAC	17.37:g.7579319_7579323delGTCAC	ENSP00000269305:p.Val122fs	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)				TP53_ENST00000269305.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs	p.VT122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	496_500	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.364_368delGTGAC	CCDS11118.1																																																																																				0.551	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		63	11						63	11	---	---	---	---	-	7579323	GTCAC	-	7579319	7	5	391	1	0	1	0	1	0	0	0	0	16378	1029	36	0	934	0	TP53	17	7579319	Frame_Shift_Del	DEL	GTCAC	TCGA-QH-A6X3-01A-21D-A32B-08		7579319	73615891	26	35046											
ARHGAP27	201176	broad.mit.edu	37	chr17	43475409	43475409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcagagccatctcggctcCgtagctggagggacacaagt	12	12	2	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:43475409C>T	ENST00000428638.1	-	10	1747	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R361Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	583	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					ATCTCGGCTCCGTAGCTGGAG	0.592																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1081-1083)cGg>cAg		Rho GTPase activating protein 27							87	74	78					17																	43475409		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43475409C>T	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.1748G>A	17.37:g.43475409C>T	ENSP00000403323:p.Arg583Gln					ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R583Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q	p.R361Q			Q6ZUM4	RHG27_HUMAN			9	1217	-	Renal(3;0.0405)		583					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1082G>A		.	.	.	.	.	.	.	.	.	.	C	16.98	3.271250	0.59649	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.72	1.67	0.24075	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.285900	0.33772	N	0.004572	T	0.62672	0.2447	L	0.60455	1.87	0.80722	D	1	P;P;D	0.56035	0.85;0.927;0.974	B;B;B	0.37550	0.137;0.071;0.253	T	0.60732	-0.7205	10	0.66056	D	0.02	.	6.7916	0.23703	0.0:0.6252:0.0:0.3748	.	361;556;583	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	Q	361;242;215;561;583;556;242	ENSP00000432762:R361Q;ENSP00000366121:R242Q;ENSP00000431591:R215Q;ENSP00000433942:R561Q;ENSP00000403323:R583Q;ENSP00000409330:R556Q;ENSP00000408235:R242Q	ENSP00000366121:R242Q	R	-	2	0	ARHGAP27	40831192	0.790000	0.28787	0.997000	0.53966	0.944000	0.59088	0.373000	0.20484	0.240000	0.21263	0.485000	0.47835	CGG		0.592	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		25	26	0	0	0	1	0	25	26					T	43475409	C	T	43475409	3	4	391	1	0	0	0	0	1	0	0	0	876	652	23	1	953	1	ARHGAP27	17	43475409	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	35896090	43475409	37719801	27	35047											
TRIM65	201292	broad.mit.edu	37	chr17	73892940	73892940	+	Frame_Shift_Del	DEL	A	A	-													cccgcagaagttgtggccgcAgggcagcgtcactgggtcct							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:73892940delA	ENST00000269383.3	-	1	144	c.79delT	c.(79-81)tgcfs	p.C27fs	RP11-552F3.10_ENST00000587267.1_RNA	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	27						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)			TTGTGGCCGCAGGGCAGCGTC	0.721																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(79-81)gcfs		tripartite motif containing 65							5	4	5					17																	73892940		2004	3964	5968	SO:0001589	frameshift_variant	201292					intracellular	zinc ion binding	g.chr17:73892940delA	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.79delT	17.37:g.73892940delA	ENSP00000269383:p.Cys27fs						p.C27fs	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	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)		1	144	-			27					Q4G0F0|Q6DKJ6|Q9BRP6	Frame_Shift_Del	DEL	ENST00000269383.3	37	c.79delT	CCDS11732.1																																																																																				0.721	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		2	4						2	4	---	---	---	---	-	73892940	A	-	73892940	7	5	391	1	0	1	0	1	0	0	0	0	16536	188	7	0	1498	0	TRIM65	17	73892940	Frame_Shift_Del	DEL	A	TCGA-QH-A6X3-01A-21D-A32B-08	30417531	73892940	7302270	28	35048											
DLGAP1	9229	broad.mit.edu	37	chr18	3879314	3879314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgacgtcgttgttgctcCgggaggccttcaccgcctgc	12	14	1	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:3879314C>T	ENST00000315677.3	-	4	1350	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	252					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTGCTCCGGGAGGCCTT	0.657																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(754-756)cGg>cAg		discs, large (Drosophila) homolog-associated protein 1							61	60	60					18																	3879314		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879314C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.755G>A	18.37:g.3879314C>T	ENSP00000316377:p.Arg252Gln					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q	p.R252Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1350	-		Colorectal(8;0.0257)	252					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.755G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066678	0.93898	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.28666	1.6;1.6	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.83275	0.944;0.996;0.788	T	0.56817	-0.7916	10	0.72032	D	0.01	-21.5295	19.4162	0.94700	0.0:1.0:0.0:0.0	.	252;252;252	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	Q	252	ENSP00000316377:R252Q;ENSP00000445973:R252Q	ENSP00000316377:R252Q	R	-	2	0	DLGAP1	3869314	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	4.555000	0.60767	2.605000	0.88082	0.655000	0.94253	CGG		0.657	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			19	35	0	0	0	1	0	19	35					T	3879314	C	T	3879314	3	4	391	1	0	0	0	0	1	0	0	0	4559	652	23	1	2273	1	DLGAP1	18	3879314	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		3879314	74197934	29	35049											
EPB41L3	23136	broad.mit.edu	37	chr18	5398132	5398132	+	Missense_Mutation	SNP	G	G	C													ccatgagcttttccccagaaGactgcttagtctgagtgaac							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398132G>C	ENST00000341928.2	-	17	2700	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding. {ECO:0000255}.				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						TTCCCCAGAAGACTGCTTAGT	0.418																																						ENST00000341928.2																			0				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						c.(2359-2361)tCt>tGt		erythrocyte membrane protein band 4.1-like 3							191	206	201					18																	5398132		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398132G>C	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.2360C>G	18.37:g.5398132G>C	ENSP00000343158:p.Ser787Cys					EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C	p.S787C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2700	-			787			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2360C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875505	0.51695	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83250	-1.55;-1.7;-0.25;-0.38;-1.55	6.17	5.3	0.74995	.	0.691758	0.15460	N	0.261150	D	0.88224	0.6379	M	0.65975	2.015	0.39845	D	0.973162	P;P;D;D;P	0.59767	0.547;0.836;0.986;0.959;0.805	B;P;P;P;B	0.59171	0.391;0.518;0.853;0.503;0.401	D	0.88413	0.3023	10	0.59425	D	0.04	.	12.664	0.56830	0.132:0.0:0.868:0.0	.	618;84;92;179;787	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	787;618;84;92;787	ENSP00000343158:S787C;ENSP00000441174:S618C;ENSP00000392195:S84C;ENSP00000442233:S92C;ENSP00000341138:S787C	ENSP00000343158:S787C	S	-	2	0	EPB41L3	5388132	1.000000	0.71417	0.987000	0.45799	0.925000	0.55904	5.013000	0.64023	1.628000	0.50416	-0.150000	0.13652	TCT		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		91	156	0	0	0	1	0	91	156					C	5398132	G	C	5398132	3	2	391	1	0	0	0	0	1	0	0	0	5154	942	33	4	927	4	EPB41L3	18	5398132	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	1518818	5398132	72679116	30	35050	152	2									
EPB41L3	23136	broad.mit.edu	37	chr18	5398141	5398141	+	Splice_Site	SNP	G	G	C													tttccccagaagactgcttaGtctgagtgaacaaagagagg							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398141G>C	ENST00000341928.2	-	17	2691	c.2351C>G	c.(2350-2352)aCt>aGt	p.T784S	EPB41L3_ENST00000427684.2_Splice_Site_p.T81S|EPB41L3_ENST00000342933.3_Splice_Site_p.T784S|EPB41L3_ENST00000542146.1_Splice_Site_p.T89S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Splice_Site_p.T615S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	784	Spectrin--actin-binding. {ECO:0000255}.				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						AGACTGCTTAGTCTGAGTGAA	0.433																																						ENST00000341928.2																			0				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						c.e17-1		erythrocyte membrane protein band 4.1-like 3							175	189	184					18																	5398141		2203	4300	6503	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398141G>C	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.2350-1C>G	18.37:g.5398141G>C						EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Splice_Site_p.T81_splice|EPB41L3_ENST00000544123.1_Splice_Site_p.T615_splice|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Splice_Site_p.T784_splice|EPB41L3_ENST00000542146.1_Splice_Site_p.T89_splice	p.T784_splice	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2691	-			784			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.2349_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159547	0.38119	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	T;D;T;T;T	0.82167	-1.43;-1.58;-0.23;-0.25;-1.43	6.17	6.17	0.99709	.	0.153108	0.56097	D	0.000023	D	0.90504	0.7025	M	0.73598	2.24	0.45403	D	0.998382	P;D;D;P;P	0.76494	0.868;0.998;0.999;0.745;0.862	B;D;D;B;B	0.80764	0.269;0.978;0.994;0.114;0.293	D	0.89074	0.3471	10	0.41790	T	0.15	.	16.376	0.83392	0.0:0.0:0.8677:0.1323	.	615;81;89;176;784	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	S	784;615;81;89;784	ENSP00000343158:T784S;ENSP00000441174:T615S;ENSP00000392195:T81S;ENSP00000442233:T89S;ENSP00000341138:T784S	ENSP00000343158:T784S	T	-	2	0	EPB41L3	5388141	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.254000	0.65457	2.941000	0.99782	0.655000	0.94253	ACT		0.433	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Missense_Mutation	85	147	0	0	0	1	0	85	147					C	5398141	G	C	5398141	5	2	391	1	0	0	0	0	0	0	1	0	5154	1043	36	4	936	4	EPB41L3	18	5398141	Splice_Site	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	9	5398141	72679107	31	35051	152	2									
LIPI	149998	broad.mit.edu	37	chr21	15537704	15537704	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttgcatttaatgaaTtgaattccttaagggttaaa	10	3	0	2			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr21:15537704T>A	ENST00000536861.1	-	6	740	c.741A>T	c.(739-741)caA>caT	p.Q247H	LIPI_ENST00000344577.2_Missense_Mutation_p.Q268H			Q6XZB0	LIPI_HUMAN	lipase, member I	247					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)		ATTTAATGAATTGAATTCCTT	0.299																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(802-804)caA>caT		lipase, member I							61	64	63					21																	15537704		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15537704T>A	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.741A>T	21.37:g.15537704T>A	ENSP00000440381:p.Gln247His					LIPI_ENST00000536861.1_Missense_Mutation_p.Q247H	p.Q268H	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	6	829	-			247					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.804A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.836|6.836	0.523506|0.523506	0.13066|0.13066	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000400211|ENST00000344577;ENST00000536861;ENST00000382981	.|D;D	.|0.91124	.|-2.79;-2.79	5.73|5.73	0.377|0.377	0.16198|0.16198	.|.	.|2.983030	.|0.00829	.|N	.|0.001643	D|D	0.86669|0.86669	0.5988|0.5988	L|L	0.48935|0.48935	1.535|1.535	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.18461	.|0.001;0.028	.|B;B	.|0.21917	.|0.008;0.037	T|T	0.67681|0.67681	-0.5608|-0.5608	5|10	.|0.51188	.|T	.|0.08	.|.	2.1436|2.1436	0.03781|0.03781	0.2768:0.0748:0.1361:0.5123|0.2768:0.0748:0.1361:0.5123	.|.	.|217;268	.|G1JSG6;Q6XZB0-2	.|.;.	F|H	97|268;247;112	.|ENSP00000343331:Q268H;ENSP00000440381:Q247H	.|ENSP00000343331:Q268H	I|Q	-|-	1|3	0|2	LIPI|LIPI	14459575|14459575	0.283000|0.283000	0.24277|0.24277	0.119000|0.119000	0.21687|0.21687	0.158000|0.158000	0.22134|0.22134	-0.113000|-0.113000	0.10774|0.10774	-0.095000|-0.095000	0.12351|0.12351	0.528000|0.528000	0.53228|0.53228	ATT|CAA		0.299	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		26	25	0	0	0	1	0	26	25					A	15537704	T	A	15537704	3	1	391	1	0	0	0	0	1	0	0	0	8825	1490	52	5	661	5	LIPI	21	15537704	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		15537704	32592191	32	35052											
GNAZ	2781	broad.mit.edu	37	chr22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggggcagaggtcagagcGcaaaaagtggatccactgct	17	8	1	2			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	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)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(625-627)cGc>cAc		guanine nucleotide binding protein (G protein), alpha z polypeptide							164	176	172					22																	23438508		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438508G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.626G>A	22.37:g.23438508G>A	ENSP00000248996:p.Arg209His					RTDR1_ENST00000216036.4_Intron	p.R209H	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1292	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		209					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.626G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039750	0.75732	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.92965	-3.14	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	H	0.97682	4.055	0.80722	D	1	D	0.69078	0.997	B	0.41174	0.349	D	0.96877	0.9643	10	0.87932	D	0	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	209	P19086	GNAZ_HUMAN	H	209;157	ENSP00000248996:R209H	ENSP00000248996:R209H	R	+	2	0	GNAZ	21768508	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	9.597000	0.98273	2.349000	0.79799	0.655000	0.94253	CGC		0.562	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		4	188	0	0	0	1	0	4	188					A	23438508	G	A	23438508	3	1	391	1	0	0	0	0	1	0	0	0	6514	1087	38	1	628	1	GNAZ	22	23438508	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		23438508	27866058	33	35053											
ATRX	546	broad.mit.edu	37	chrX	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-													ttttatctcttatttttttaCttttcttttctccatcagtt							TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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						TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3133-3138)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937611_76937615delCTTTT	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.3133_3137delAAAAG	X.37:g.76937616_76937620delCTTTT	ENSP00000362441:p.Lys1045fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	p.KS1045fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3347_3351	-			1045					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3133_3137delAAAAG	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		35	19						35	19	---	---	---	---	-	76937615	CTTTT	-	76937611	7	5	391	1	0	1	0	1	0	0	0	0	1208	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-QH-A6X3-01A-21D-A32B-08		76937611	78332949	34	35054											
FUBP1	8880	broad.mit.edu	37	chr1	78422268	78422271	+	Frame_Shift_Del	DEL	GTTT	GTTT	-													tgtagttaccttgtccattaGtttgagttgtagttggtgca							TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:78422268_78422271delGTTT	ENST00000370768.2	-	17	1772_1775	c.1691_1694delAAAC	c.(1690-1695)caaactfs	p.QT564fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.QT564fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	564					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTAGT	0.407			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1690-1695)ctfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422268_78422271delGTTT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1691_1694delAAAC	1.37:g.78422268_78422271delGTTT	ENSP00000359804:p.Gln564fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.QT564fs	p.QT564fs			Q96AE4	FUBP1_HUMAN			17	1778_1781	-			564					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1691_1694delAAAC	CCDS683.1																																																																																				0.407	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	16						15	16	---	---	---	---	-	78422271	GTTT	-	78422268	7	5	392	1	0	1	0	1	0	0	0	0	6092	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Del	DEL	GTTT	TCGA-QH-A6X4-01A-51D-A32B-08		78422268	170828353	1	35055											
CAPN9	10753	broad.mit.edu	37	chr1	230903392	230903392	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caaactaaagaggcccccgaGaacttctatgagattctaga	8	10	2	4			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:230903392G>C	ENST00000271971.2	+	5	755	c.642G>C	c.(640-642)gaG>gaC	p.E214D	CAPN9_ENST00000354537.1_Missense_Mutation_p.E214D|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	214	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)				AGGCCCCCGAGAACTTCTATG	0.537																																						ENST00000354537.1																			0				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						c.(640-642)gaG>gaC		calpain 9							100	107	105					1																	230903392		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230903392G>C	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.642G>C	1.37:g.230903392G>C	ENSP00000271971:p.Glu214Asp					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E214D|CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D	p.E214D	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			5	724	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	214			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.642G>C	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853718	0.32791	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.13307	2.6;2.6;2.6	5.32	4.3	0.51218	Peptidase C2, calpain, catalytic domain (3);	0.483859	0.25347	N	0.031327	T	0.05731	0.0150	N	0.05306	-0.075	0.31545	N	0.659407	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.06409	-1.0828	10	0.35671	T	0.21	.	4.8281	0.13427	0.1667:0.4432:0.39:0.0	.	151;214;214	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	D	214;214;151	ENSP00000271971:E214D;ENSP00000346538:E214D;ENSP00000355626:E151D	ENSP00000271971:E214D	E	+	3	2	CAPN9	228970015	0.334000	0.24739	0.982000	0.44146	0.913000	0.54294	0.109000	0.15417	2.474000	0.83562	0.655000	0.94253	GAG		0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		39	51	0	0	0	1	0	39	51					C	230903392	G	C	230903392	3	2	392	1	0	0	0	0	1	0	0	0	2632	933	33	4	660	4	CAPN9	1	230903392	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	152481124	230903392	18347229	2	35056											
C2orf77	129881	broad.mit.edu	37	chr2	170506899	170506902	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													ttgtttttttcatctttttcTctttctcttttttcccattc					rs139617634	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:170506899_170506902delTCTT	ENST00000447353.1	-	7	1194_1197	c.1089_1092delAAGA	c.(1087-1092)gaaagafs	p.ER363fs		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	363																	CATCTTTTTCTCTTTCTCTTTTTT	0.309																																						ENST00000447353.1																			0											c.(1087-1092)gafs		coiled-coil domain containing 173																																				SO:0001589	frameshift_variant	129881							g.chr2:170506899_170506902delTCTT	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1089_1092delAAGA	2.37:g.170506899_170506902delTCTT	ENSP00000391504:p.Glu363fs						p.ER363fs	NM_001085447.1	NP_001078916.1					7	1194_1197	-								Q6PJF6	Frame_Shift_Del	DEL	ENST00000447353.1	37	c.1089_1092delAAGA	CCDS46445.1																																																																																				0.309	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		5	11						5	11	---	---	---	---	-	170506902	TCTT	-	170506899	7	5	392	1	0	1	0	1	0	0	0	0	2194	1548	54	0	578	0	C2orf77	2	170506899	Frame_Shift_Del	DEL	TCTT	TCGA-QH-A6X4-01A-51D-A32B-08		170506899	72692474	3	35057											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	39	0	0	0	1	0	16	39					T	209113112	C	T	209113112	3	4	392	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	38606213	209113112	34086261	4	35058											
SPP2	6694	broad.mit.edu	37	chr2	234959502	234959502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctcttggaatgaactaCtggtcttgctcaggtaaggt	11	7	3	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:234959502C>T	ENST00000168148.3	+	1	160	c.72C>T	c.(70-72)taC>taT	p.Y24Y	SPP2_ENST00000373368.1_Silent_p.Y24Y|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	24					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGAACTACTGGTCTTGCT	0.473																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(70-72)taC>taT		secreted phosphoprotein 2, 24kDa							278	250	260					2																	234959502		2203	4300	6503	SO:0001819	synonymous_variant	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959502C>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.72C>T	2.37:g.234959502C>T						SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Silent_p.Y24Y	p.Y24Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	1	160	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	24					A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	c.72C>T	CCDS2511.1																																																																																				0.473	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		49	88	0	0	0	1	0	49	88					T	234959502	C	T	234959502	2	4	392	1	0	0	0	0	0	0	0	1	15086	576	20	2		2	SPP2	2	234959502	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	25846390	234959502	8239871	5	35059											
CCR2	729230	broad.mit.edu	37	chr3	46399083	46399083	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtgaagaagtcaccaCcttttttgattatgattacg	10	7	1	4			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:46399083C>G	ENST00000400888.2	+	1	104	c.65C>G	c.(64-66)aCc>aGc	p.T22S	CCR2_ENST00000292301.4_Missense_Mutation_p.T22S|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.T22S			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	22					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GAAGTCACCACCTTTTTTGAT	0.468																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(64-66)aCc>aGc		chemokine (C-C motif) receptor 2							199	176	183					3																	46399083		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399083C>G		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.65C>G	3.37:g.46399083C>G	ENSP00000383681:p.Thr22Ser					CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.T22S|CCR2_ENST00000445132.2_Missense_Mutation_p.T22S	p.T22S	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	550	+			22					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.65C>G	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294787	0.23564	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.69040	-0.37;-0.34;1.29;-0.34	4.77	3.87	0.44632	.	0.963063	0.08499	N	0.936741	T	0.55097	0.1899	L	0.31294	0.92	0.28473	N	0.915327	B;B	0.26975	0.126;0.165	B;B	0.25291	0.059;0.031	T	0.41945	-0.9480	10	0.19590	T	0.45	.	12.3459	0.55119	0.0:0.9144:0.0:0.0856	.	22;22	P41597;Q4VBL2	CCR2_HUMAN;.	S	22	ENSP00000399285:T22S;ENSP00000292301:T22S;ENSP00000396736:T22S;ENSP00000383681:T22S	ENSP00000292301:T22S	T	+	2	0	CCR2	46374087	0.005000	0.15991	0.798000	0.32154	0.013000	0.08279	2.004000	0.40854	1.087000	0.41251	0.650000	0.86243	ACC		0.468	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		32	52	0	0	0	1	0	32	52					G	46399083	C	G	46399083	3	3	392	1	0	0	0	0	1	0	0	0	2941	507	18	4	67	4	CCR2	3	46399083	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		46399083	151623347	6	35060											
FAIM	55179	broad.mit.edu	37	chr3	138351879	138351879	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagggattattcatacTctcattgtggataatagaga	9	4	2	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:138351879T>G	ENST00000393035.2	+	5	607	c.498T>G	c.(496-498)acT>acG	p.T166T	FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000360570.3_Silent_p.T188T|FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000338446.4_Silent_p.T200T	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	166					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						TTATTCATACTCTCATTGTGG	0.358																																						ENST00000338446.4																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(598-600)acT>acG		Fas apoptotic inhibitory molecule							108	112	111					3																	138351879		2203	4300	6503	SO:0001819	synonymous_variant	55179				apoptosis	cytoplasm		g.chr3:138351879T>G	AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.498T>G	3.37:g.138351879T>G						FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000393035.2_Silent_p.T166T|FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000360570.3_Silent_p.T188T	p.T200T	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN			6	1283	+			166					Q6IAN2	Silent	SNP	ENST00000393035.2	37	c.600T>G	CCDS3103.1																																																																																				0.358	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032		33	42	0	0	0	1	0	33	42					G	138351879	T	G	138351879	2	3	392	1	0	0	0	0	0	0	0	1	5375	1538	54	5		5	FAIM	3	138351879	Silent	SNP	T	TCGA-QH-A6X4-01A-51D-A32B-08	91952796	138351879	59670551	7	35061											
PCDH18	54510	broad.mit.edu	37	chr4	138452455	138452455	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cattcagatctaagagcaaaGtgccaaccggggagttttct	10	9	3	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr4:138452455G>C	ENST00000344876.4	-	1	1174	c.788C>G	c.(787-789)aCt>aGt	p.T263S	PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAAGAGCAAAGTGCCAACCGG	0.413																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(787-789)aCt>aGt		protocadherin 18							61	64	63					4																	138452455		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452455G>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.788C>G	4.37:g.138452455G>C	ENSP00000355082:p.Thr263Ser					PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000510305.1_Intron	p.T263S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1174	-	all_hematologic(180;0.24)		263			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.788C>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124245	0.37533	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.56444	0.46;0.46;0.46	5.7	3.84	0.44239	Cadherin (4);Cadherin-like (1);	0.000000	0.42420	U	0.000710	T	0.54319	0.1851	L	0.44542	1.39	0.80722	D	1	B;B;B	0.32409	0.247;0.165;0.37	B;B;B	0.42625	0.393;0.106;0.185	T	0.60198	-0.7310	10	0.62326	D	0.03	.	15.7062	0.77583	0.0:0.2586:0.7414:0.0	.	43;263;263	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	S	263;263;43	ENSP00000355082:T263S;ENSP00000390688:T263S;ENSP00000425903:T43S	ENSP00000355082:T263S	T	-	2	0	PCDH18	138671905	1.000000	0.71417	0.978000	0.43139	0.735000	0.41995	6.519000	0.73768	1.369000	0.46134	0.557000	0.71058	ACT		0.413	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	12	0	0	0	1	0	31	12					C	138452455	G	C	138452455	3	2	392	1	0	0	0	0	1	0	0	0	11513	1029	36	4	2635	4	PCDH18	4	138452455	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		138452455	52701821	8	35062											
RASGRF2	5924	broad.mit.edu	37	chr5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccccagatccgttatgCcagcgtggagcgcctcttgg	13	13	1	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)		ATCCGTTATGCCAGCGTGGAG	0.483																																						ENST00000265080.4																			0				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						c.(1924-1926)gCc>gTc		Ras protein-specific guanine nucleotide-releasing factor 2							195	191	193					5																	80408515		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408515C>T	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.1925C>T	5.37:g.80408515C>T	ENSP00000265080:p.Ala642Val						p.A642V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1992	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	642			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1925C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456331	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.55588	0.51	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	642	O14827	RGRF2_HUMAN	V	642	ENSP00000265080:A642V	ENSP00000265080:A642V	A	+	2	0	RASGRF2	80444271	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.758000	0.85224	2.752000	0.94435	0.558000	0.71614	GCC		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		4	205	0	0	0	1	0	4	205					T	80408515	C	T	80408515	3	4	392	1	0	0	0	0	1	0	0	0	13073	739	26	2	1979	2	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		80408515	100506745	9	35063											
CEP120	153241	broad.mit.edu	37	chr5	122754074	122754074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgatgaagcgctttcCtgtcaatttcccaagctaac	8	11	1	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:122754074C>T	ENST00000306467.5	-	2	489	c.185G>A	c.(184-186)aGg>aAg	p.R62K	CEP120_ENST00000395431.2_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K|CEP120_ENST00000328236.5_Missense_Mutation_p.R62K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	62					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						AAGCGCTTTCCTGTCAATTTC	0.383																																						ENST00000306467.5																			0				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						c.(184-186)aGg>aAg		centrosomal protein 120kDa							122	113	116					5																	122754074		1932	4145	6077	SO:0001583	missense	153241					centrosome		g.chr5:122754074C>T	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.185G>A	5.37:g.122754074C>T	ENSP00000303058:p.Arg62Lys					CEP120_ENST00000328236.5_Missense_Mutation_p.R62K|CEP120_ENST00000395431.2_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K	p.R62K			Q8N960	CE120_HUMAN			2	489	-			62					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.185G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109546	0.77096	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	L	0.31294	0.92	0.53688	D	0.999977	P	0.43431	0.807	P	0.46543	0.52	T	0.59679	-0.7409	10	0.10111	T	0.7	-15.0545	19.3603	0.94434	0.0:1.0:0.0:0.0	.	62	Q8N960	CE120_HUMAN	K	62;62;36;36;62	ENSP00000303058:R62K;ENSP00000327504:R62K;ENSP00000307419:R36K;ENSP00000421620:R36K;ENSP00000378819:R62K	ENSP00000303058:R62K	R	-	2	0	CEP120	122781973	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.200000	0.77838	2.639000	0.89480	0.650000	0.86243	AGG		0.383	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		19	23	0	0	0	1	0	19	23					T	122754074	C	T	122754074	3	4	392	1	0	0	0	0	1	0	0	0	3246	681	24	2	2851	2	CEP120	5	122754074	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	42345559	122754074	58161186	10	35064											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089260	137089260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcacctccacgcgatGgccctgaatcggatggaact	9	13	2	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:137089260G>A	ENST00000314940.4	-	1	779	c.496C>T	c.(496-498)Cat>Tat	p.H166Y		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCACGCGATGGCCCTGAATC	0.642																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(496-498)Cat>Tat		heterogeneous nuclear ribonucleoprotein A0							36	33	34					5																	137089260		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089260G>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.496C>T	5.37:g.137089260G>A	ENSP00000316042:p.His166Tyr						p.H166Y	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	779	-			166			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.496C>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082547	0.76528	.	.	ENSG00000177733	ENST00000314940	T	0.74421	-0.84	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.68696	0.3029	L	0.46885	1.475	0.80722	D	1	B	0.34103	0.437	B	0.27796	0.083	T	0.71771	-0.4492	10	0.66056	D	0.02	.	18.0846	0.89453	0.0:0.0:1.0:0.0	.	166	Q13151	ROA0_HUMAN	Y	166	ENSP00000316042:H166Y	ENSP00000316042:H166Y	H	-	1	0	HNRNPA0	137117159	1.000000	0.71417	0.856000	0.33681	0.989000	0.77384	4.394000	0.59671	2.522000	0.85027	0.484000	0.47621	CAT		0.642	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		8	10	0	0	0	1	0	8	10					A	137089260	G	A	137089260	3	1	392	1	0	0	0	0	1	0	0	0	7256	1348	47	2	425	2	HNRNPA0	5	137089260	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	14335186	137089260	43826000	11	35065											
ITPR3	3710	broad.mit.edu	37	chr6	33650337	33650337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagctgctgcagtctAccacacgcctcctcgagtgt	11	14	1	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:33650337A>G	ENST00000374316.5	+	35	5573	c.4513A>G	c.(4513-4515)Acc>Gcc	p.T1505A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1505					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)	GCTGCAGTCTACCACACGCCT	0.662																																						ENST00000374316.5																			0				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						c.(4513-4515)Acc>Gcc		inositol 1,4,5-trisphosphate receptor, type 3							53	52	52					6																	33650337		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33650337A>G	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.4513A>G	6.37:g.33650337A>G	ENSP00000363435:p.Thr1505Ala					ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A	p.T1505A			Q14573	ITPR3_HUMAN			35	5573	+			1505					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4513A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260850	0.23051	.	.	ENSG00000096433	ENST00000374316	T	0.61980	0.06	5.29	4.07	0.47477	.	0.175315	0.49916	D	0.000134	T	0.15132	0.0365	N	0.01576	-0.805	0.41428	D	0.987848	B	0.02656	0.0	B	0.06405	0.002	T	0.13335	-1.0513	10	0.14656	T	0.56	-48.6458	11.5609	0.50776	0.8666:0.0:0.0:0.1334	.	1505	Q14573	ITPR3_HUMAN	A	1505	ENSP00000363435:T1505A	ENSP00000363435:T1505A	T	+	1	0	ITPR3	33758315	0.997000	0.39634	1.000000	0.80357	0.882000	0.50991	2.909000	0.48758	2.002000	0.58637	0.379000	0.24179	ACC		0.662	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		25	42	0	0	0	1	0	25	42					G	33650337	A	G	33650337	3	3	392	1	0	0	0	0	1	0	0	0	7922	391	14	3	4647	3	ITPR3	6	33650337	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		33650337	137464730	12	35066											
PTK7	5754	broad.mit.edu	37	chr6	43109996	43109996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcattgcaggcaacaGctgcaacatcaagcacacgg	9	14	1	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:43109996G>A	ENST00000230419.4	+	13	2227	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N|PTK7_ENST00000349241.2_Missense_Mutation_p.S539N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	669	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGGCAACAGCTGCAACATC	0.597																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2005-2007)aGc>aAc		protein tyrosine kinase 7							67	59	61					6																	43109996		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109996G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2006G>A	6.37:g.43109996G>A	ENSP00000230419:p.Ser669Asn					PTK7_ENST00000349241.2_Missense_Mutation_p.S539N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N	p.S669N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		13	2227	+			669			Ig-like C2-type 7.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2006G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672671	0.67928	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000345201;ENST00000481273	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.37750	1.13	0.58432	D	0.999996	P;B;B;B	0.42871	0.792;0.383;0.36;0.412	P;B;B;B	0.48952	0.596;0.32;0.112;0.178	T	0.60357	-0.7279	10	0.46703	T	0.11	.	13.9074	0.63845	0.0:0.1525:0.8475:0.0	.	677;539;629;669	E9PFZ5;Q13308-3;Q13308-2;Q13308	.;.;.;PTK7_HUMAN	N	669;539;629;677	ENSP00000230419:S669N;ENSP00000325462:S539N;ENSP00000325992:S629N;ENSP00000418754:S677N	ENSP00000230418:S669N	S	+	2	0	PTK7	43217974	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.334000	0.65923	2.294000	0.77228	0.467000	0.42956	AGC		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			16	22	0	0	0	1	0	16	22					A	43109996	G	A	43109996	3	1	392	1	0	0	0	0	1	0	0	0	12765	971	34	2	2056	2	PTK7	6	43109996	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	9459659	43109996	128005071	13	35067											
C6orf142	90523	broad.mit.edu	37	chr6	53989659	53989659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctcagcaaaagcatgGgcaggtaggttttgtgttcc	13	10	1	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:53989659G>A	ENST00000274897.5	+	3	721	c.608G>A	c.(607-609)gGg>gAg	p.G203E	MLIP_ENST00000370877.2_Missense_Mutation_p.G151E|MLIP_ENST00000370876.2_Missense_Mutation_p.G141E|MLIP_ENST00000502396.1_Missense_Mutation_p.G214E|MLIP_ENST00000509997.1_Missense_Mutation_p.G151E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Missense_Mutation_p.G203E|MLIP_ENST00000358276.5_Missense_Mutation_p.G197E	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	203						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAAAGCATGGGCAGGTAGGT	0.493																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(607-609)gGg>gAg		muscular LMNA-interacting protein							44	41	42					6																	53989659		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989659G>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.608G>A	6.37:g.53989659G>A	ENSP00000274897:p.Gly203Glu					MLIP_ENST00000370876.2_Missense_Mutation_p.G141E|MLIP_ENST00000502396.1_Missense_Mutation_p.G214E|MLIP_ENST00000358276.5_Missense_Mutation_p.G197E|MLIP_ENST00000370877.2_Missense_Mutation_p.G151E|MLIP_ENST00000274897.5_Missense_Mutation_p.G203E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.G151E	p.G203E			Q5VWP3	MLIP_HUMAN			3	721	+			203					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.608G>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876098	0.33162	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.68	1.41	0.22369	.	0.701703	0.13820	N	0.360470	T	0.24353	0.0590	L	0.44542	1.39	0.09310	N	1	D;D;P;B;D	0.67145	0.996;0.996;0.946;0.169;0.989	P;D;P;B;P	0.65773	0.901;0.938;0.586;0.056;0.893	T	0.03433	-1.1037	9	.	.	.	-0.1006	7.1835	0.25786	0.0:0.291:0.3765:0.3325	.	214;214;141;203;203	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	E	203;203;151;151;141;85;85;162;214;197;85;204	ENSP00000274897:G203E;ENSP00000425142:G203E;ENSP00000359914:G151E;ENSP00000427584:G151E;ENSP00000359913:G141E;ENSP00000411917:G85E;ENSP00000427057:G85E;ENSP00000426830:G162E;ENSP00000426290:G214E;ENSP00000351019:G197E;ENSP00000421444:G204E	.	G	+	2	0	MLIP	54097618	0.135000	0.22499	0.871000	0.34182	0.658000	0.38924	0.253000	0.18296	0.670000	0.31165	0.655000	0.94253	GGG		0.493	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		9	18	0	0	0	1	0	9	18					A	53989659	G	A	53989659	3	1	392	1	0	0	0	0	1	0	0	0	2333	1232	43	2	618	2	C6orf142	6	53989659	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	10879663	53989659	117125408	14	35068											
CYP3A43	64816	broad.mit.edu	37	chr7	99453218	99453218	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttaattttcctatagcactCtttccatttcttaccccagt	2	12	2	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr7:99453218C>T	ENST00000354829.2	+	8	778	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000222382.5_Silent_p.L225L|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Silent_p.L115L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	225			Missing (in allele CYP3A43*2).		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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CTATAGCACTCTTTCCATTTC	0.279																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(673-675)ctC>ctT		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						52	52	52					7																	99453218		2199	4298	6497	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99453218C>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.675C>T	7.37:g.99453218C>T						CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L225L|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Silent_p.L115L	p.L225L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			8	778	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		225		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.675C>T	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940164	0.18281	.	.	ENSG00000021461	ENST00000379654	.	.	.	2.69	-1.25	0.09405	.	0.381541	0.24803	N	0.035464	T	0.48295	0.1492	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.47394	-0.9121	6	0.87932	D	0	.	1.0679	0.01615	0.3926:0.2793:0.1935:0.1346	.	.	.	.	F	119	.	ENSP00000368975:L119F	L	+	1	0	CYP3A43	99291154	0.000000	0.05858	0.305000	0.25099	0.717000	0.41224	-3.934000	0.00331	-0.041000	0.13558	0.195000	0.17529	CTT		0.279	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			14	20	0	0	0	1	0	14	20					T	99453218	C	T	99453218	2	4	392	1	0	0	0	0	0	0	0	1	4179	900	32	2		2	CYP3A43	7	99453218	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		99453218	59685445	15	35069											
DNAI1	27019	broad.mit.edu	37	chr9	34493301	34493301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagggaagatggccatgaGgaagctgacatctatggagt	14	6	2	3			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr9:34493301G>A	ENST00000242317.4	+	9	962	c.791G>A	c.(790-792)aGg>aAg	p.R264K	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATGGCCATGAGGAAGCTGACA	0.478									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(790-792)aGg>aAg		dynein, axonemal, intermediate chain 1							108	104	105					9																	34493301		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34493301G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.791G>A	9.37:g.34493301G>A	ENSP00000242317:p.Arg264Lys					DNAI1_ENST00000488369.1_3'UTR	p.R264K	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	9	962	+	all_epithelial(49;0.244)		264					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.791G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	2.840	-0.240655	0.05944	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.27557	1.66;1.66	5.36	3.51	0.40186	.	0.280045	0.32488	N	0.006038	T	0.10252	0.0251	N	0.02266	-0.62	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.13656	-1.0501	10	0.07175	T	0.84	.	8.7094	0.34374	0.1775:0.0:0.8225:0.0	.	264	Q9UI46	DNAI1_HUMAN	K	253;264;253	ENSP00000242317:R264K;ENSP00000395396:R253K	ENSP00000242317:R264K	R	+	2	0	DNAI1	34483301	1.000000	0.71417	0.877000	0.34402	0.108000	0.19459	3.758000	0.55220	0.643000	0.30638	0.563000	0.77884	AGG		0.478	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			18	30	0	0	0	1	0	18	30					A	34493301	G	A	34493301	3	1	392	1	0	0	0	0	1	0	0	0	4609	1000	35	2	825	2	DNAI1	9	34493301	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		34493301	106720130	16	35070											
SVIL	6840	broad.mit.edu	37	chr10	29779937	29779937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgcttgtgctcggccacgGaagacgtcaatctgcggatg	13	13	2	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:29779937G>A	ENST00000355867.4	-	22	4783	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000375398.2_Missense_Mutation_p.S1344F|SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1344					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCGGCCACGGAAGACGTCAA	0.587																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4030-4032)tCc>tTc		supervillin							27	27	27					10																	29779937		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29779937G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4031C>T	10.37:g.29779937G>A	ENSP00000348128:p.Ser1344Phe					SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F|SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000355867.4_Missense_Mutation_p.S1344F	p.S1344F			O95425	SVIL_HUMAN			24	4480	-		Breast(68;0.103)	1344					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4031C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455670	0.26161	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.27256	2.62;2.65;2.65;2.48;1.68	4.08	3.15	0.36227	.	0.262756	0.37577	N	0.002027	T	0.25938	0.0632	M	0.64997	1.995	0.19300	N	0.999979	B;B;P;P	0.47034	0.203;0.323;0.889;0.715	B;B;B;B	0.38985	0.182;0.258;0.275;0.287	T	0.18053	-1.0349	10	0.87932	D	0	-6.575	12.2168	0.54410	0.0851:0.0:0.9149:0.0	.	258;136;918;1344	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	F	918;1344;1344;258;298;136	ENSP00000364549:S918F;ENSP00000364547:S1344F;ENSP00000348128:S1344F;ENSP00000445472:S258F;ENSP00000440343:S136F	ENSP00000348128:S1344F	S	-	2	0	SVIL	29819943	0.998000	0.40836	0.012000	0.15200	0.160000	0.22226	3.970000	0.56824	0.897000	0.36392	0.485000	0.47835	TCC		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	26	0	0	0	1	0	4	26					A	29779937	G	A	29779937	3	1	392	1	0	0	0	0	1	0	0	0	15418	1174	41	2	2681	2	SVIL	10	29779937	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		29779937	105754810	17	35071											
AGAP11	119385	broad.mit.edu	37	chr10	88769470	88769470	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacctgtggggagggagaCggctgcacggcgctccatct	17	11	1	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:88769470C>T	ENST00000444431.1	+	0	4070				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GGGAGGGAGACGGCTGCACGG	0.672																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769470C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769470C>T						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	4070	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.672	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		36	81	0	0	0	1	0	36	81					T	88769470	C	T	88769470	1	4	392	0	1	0	0	0	0	0	0	0	367	535	19	1		1	AGAP11	10	88769470	RNA	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	58989533	88769470	46765277	18	35072											
CELF1	10658	broad.mit.edu	37	chr11	47498502	47498502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactgctgctagagctaggtGaggaccctgctattagaaag	12	8	0	3			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:47498502G>A	ENST00000358597.3	-	9	898	c.899C>T	c.(898-900)tCa>tTa	p.S300L	CELF1_ENST00000395290.2_Missense_Mutation_p.S299L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L|CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000539455.1_5'Flank|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	300	Ser-rich.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGAGCTAGGTGAGGACCCTGC	0.463																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(895-897)tCa>tTa		CUGBP, Elav-like family member 1							92	89	90					11																	47498502		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47498502G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.899C>T	11.37:g.47498502G>A	ENSP00000351409:p.Ser300Leu					CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L|CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000358597.3_Missense_Mutation_p.S300L	p.S299L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			9	905	-			300			Ser-rich.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.896C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990041	0.93106	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.54;1.02;1.54;1.54;1.02	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.31926	0.97	0.80722	D	1	B;B;B;B;B;B	0.26809	0.16;0.16;0.16;0.16;0.16;0.099	B;B;B;B;B;B	0.25405	0.06;0.06;0.06;0.06;0.06;0.017	T	0.14643	-1.0465	10	0.10111	T	0.7	-8.5522	20.2617	0.98447	0.0:0.0:1.0:0.0	.	299;328;326;296;297;300	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	L	299;300;297;296;297;328;326	ENSP00000378705:S299L;ENSP00000351409:S300L;ENSP00000378706:S297L;ENSP00000308386:S296L;ENSP00000354639:S297L;ENSP00000436864:S328L;ENSP00000435926:S326L	ENSP00000308386:S296L	S	-	2	0	CELF1	47455078	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.354000	0.97083	2.793000	0.96121	0.655000	0.94253	TCA		0.463	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		26	34	0	0	0	1	0	26	34					A	47498502	G	A	47498502	3	1	392	1	0	0	0	0	1	0	0	0	3215	1294	45	2	577	2	CELF1	11	47498502	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		47498502	87508014	19	35073											
PRDM10	56980	broad.mit.edu	37	chr11	129814836	129814836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgggtgagcaccggccGgttggggatcgggtgcaagg	21	10	0	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:129814836G>A	ENST00000360871.3	-	6	823	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W|PRDM10_ENST00000358825.5_Missense_Mutation_p.R198W	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	198					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)		AGCACCGGCCGGTTGGGGATC	0.617																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(592-594)Cgg>Tgg		PR domain containing 10							37	39	38					11																	129814836		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129814836G>A	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.592C>T	11.37:g.129814836G>A	ENSP00000354118:p.Arg198Trp					PRDM10_ENST00000360871.3_Missense_Mutation_p.R198W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W	p.R198W	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	6	823	-	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)	198					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.592C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585181	0.86748	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082	T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.29	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.76681	0.4021	M	0.68317	2.08	0.58432	D	0.999991	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	0.995;0.999;0.997;0.995;0.998;0.997;0.997	T	0.79633	-0.1722	10	0.87932	D	0	-35.8063	14.0788	0.64907	0.0:0.0:0.7262:0.2738	.	112;198;198;198;112;112;112	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	W	198;112;198;112;172;112	ENSP00000351686:R198W;ENSP00000302669:R112W;ENSP00000354118:R198W;ENSP00000398431:R112W;ENSP00000431262:R172W;ENSP00000432237:R112W	ENSP00000302669:R112W	R	-	1	2	PRDM10	129320046	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.022000	0.49659	1.338000	0.45544	0.650000	0.86243	CGG		0.617	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	56	0	0	0	1	0	4	56					A	129814836	G	A	129814836	3	1	392	1	0	0	0	0	1	0	0	0	12451	1115	39	1	2958	1	PRDM10	11	129814836	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	82316334	129814836	5191680	20	35074											
AACS	65985	broad.mit.edu	37	chr12	125603203	125603203	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcggctggatgatgtGgaactggatggtgtcccttc	16	8	0	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr12:125603203G>A	ENST00000316519.6	+	10	1219	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	AACS_ENST00000261686.6_Nonsense_Mutation_p.W338*|AACS_ENST00000545511.1_5'Flank|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	338					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)		TGGATGATGTGGAACTGGATG	0.652																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1012-1014)tGg>tAg		acetoacetyl-CoA synthetase							75	68	70					12																	125603203		2203	4300	6503	SO:0001587	stop_gained	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125603203G>A	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.1013G>A	12.37:g.125603203G>A	ENSP00000324842:p.Trp338*					AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Nonsense_Mutation_p.W338*	p.W338*	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	10	1219	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		338					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Nonsense_Mutation	SNP	ENST00000316519.6	37	c.1013G>A	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	40	7.945510	0.98574	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000441247;ENST00000538851	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7744	0.88503	0.0:0.0:1.0:0.0	.	.	.	.	X	338;338;194;157;3	.	ENSP00000261686:W338X	W	+	2	0	AACS	124169156	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.063000	0.93927	2.181000	0.69327	0.461000	0.40582	TGG		0.652	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		9	12	0	0	0	1	0	9	12					A	125603203	G	A	125603203	4	1	392	1	0	0	0	0	0	1	0	0	9	1357	47	2	1051	2	AACS	12	125603203	Nonsense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		125603203	8248692	21	35075											
TXNDC16	57544	broad.mit.edu	37	chr14	52985913	52985913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattccaatggctcttacaTatgagaatataatatttgct	6	6	1	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr14:52985913T>C	ENST00000281741.4	-	7	862	c.491A>G	c.(490-492)tAt>tGt	p.Y164C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	164					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGCTCTTACATATGAGAATAT	0.318																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(490-492)tAt>tGt		thioredoxin domain containing 16							86	90	88					14																	52985913		2203	4287	6490	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52985913T>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.491A>G	14.37:g.52985913T>C	ENSP00000281741:p.Tyr164Cys					TXNDC16_ENST00000554399.1_Intron	p.Y164C	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			7	862	-	Breast(41;0.0716)		164					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.491A>G	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679260	0.68042	.	.	ENSG00000087301	ENST00000281741	T	0.41065	1.01	5.58	5.58	0.84498	.	0.057454	0.64402	D	0.000001	T	0.63498	0.2516	M	0.69823	2.125	0.47407	D	0.99941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.67364	-0.5689	10	0.87932	D	0	-6.0987	13.7159	0.62695	0.0:0.0:0.0:1.0	.	159;164	B7ZME4;Q9P2K2	.;TXD16_HUMAN	C	164	ENSP00000281741:Y164C	ENSP00000281741:Y164C	Y	-	2	0	TXNDC16	52055663	1.000000	0.71417	0.870000	0.34147	0.904000	0.53231	5.408000	0.66368	2.126000	0.65437	0.533000	0.62120	TAT		0.318	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		22	10	0	0	0	1	0	22	10					C	52985913	T	C	52985913	3	2	392	1	0	0	0	0	1	0	0	0	16792	1406	49	3	2046	3	TXNDC16	14	52985913	Missense_Mutation	SNP	T	TCGA-QH-A6X4-01A-51D-A32B-08		52985913	54363627	22	35076											
KLHL14	57565	broad.mit.edu	37	chr18	30275430	30275430	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgttcaatagttaccattCggattccactggtcctctcc	7	12	2	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr18:30275430C>T	ENST00000359358.4	-	4	1593	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	385						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						AGTTACCATTCGGATTCCACT	0.418																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1153-1155)ccG>ccA		kelch-like family member 14							119	90	100					18																	30275430		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30275430C>T	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.1155G>A	18.37:g.30275430C>T							p.P385P	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			4	1593	-			385					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.1155G>A	CCDS32813.1																																																																																				0.418	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			3	28	0	0	0	1	0	3	28					T	30275430	C	T	30275430	2	4	392	1	0	0	0	0	0	0	0	1	8370	871	31	1		1	KLHL14	18	30275430	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		30275430	47801818	23	35077											
MUC16	94025	broad.mit.edu	37	chr19	9075528	9075528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtgagtttggatgacGctgagtgggctgggatagtg	19	3	0	4	rs190975208	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:9075528G>A	ENST00000397910.4	-	3	12121	c.11918C>T	c.(11917-11919)gCg>gTg	p.A3973V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3975	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)				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						TTTGGATGACGCTGAGTGGGC	0.488													a|||	9	0.00179712	0.0068	0.0	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				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						c.(11917-11919)gCg>gTg		mucin 16, cell surface associated		G	VAL/ALA	5,4153		0,5,2074	80	79	79		11918	-1.2	0	19		79	0,8434		0,0,4217	yes	missense	MUC16	NM_024690.2	64	0,5,6291	AA,AG,GG		0.0,0.1203,0.0397	benign	3973/14508	9075528	5,12587	2079	4217	6296	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075528G>A	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.11918C>T	19.37:g.9075528G>A	ENSP00000381008:p.Ala3973Val						p.A3973V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12121	-			3975			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11918C>T	CCDS54212.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	a	12.61	1.991008	0.35131	0.001203	0.0	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.17	-1.23	0.09465	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	.	.	.	B	0.13145	0.007	B	0.04013	0.001	T	0.25187	-1.0139	8	0.87932	D	0	.	2.9409	0.05830	0.0:0.3093:0.2469:0.4438	.	3973	B5ME49	.	V	3973	ENSP00000381008:A3973V	ENSP00000381008:A3973V	A	-	2	0	MUC16	8936528	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.039000	0.03550	-0.431000	0.07307	-0.919000	0.02742	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	13	0	0	0	1	0	8	13					A	9075528	G	A	9075528	3	1	392	1	0	0	0	0	1	0	0	0	9973	1087	38	1	31933	1	MUC16	19	9075528	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		9075528	50053455	24	35078											
CIC	23152	broad.mit.edu	37	chr19	42795433	42795433	+	Frame_Shift_Del	DEL	T	T	-													gctgccccagcagcttcaggTggcacctgccccagcaccag							TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:42795433delT	ENST00000575354.2	+	10	2553	c.2513delT	c.(2512-2514)gtgfs	p.V838fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1747fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	838	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)				CAGCTTCAGGTGGCACCTGCC	0.682			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5239-5241)ggfs		capicua transcriptional repressor							14	16	15					19																	42795433		2190	4279	6469	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795433delT	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.2513delT	19.37:g.42795433delT	ENSP00000458663:p.Val838fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V838fs	p.V1747fs			Q96RK0	CIC_HUMAN			11	5308	+		Prostate(69;0.00682)	838					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5240delT	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	5						9	5	---	---	---	---	-	42795433	T	-	42795433	7	5	392	1	0	1	0	1	0	0	0	0	3424	1696	59	0	2551	0	CIC	19	42795433	Frame_Shift_Del	DEL	T	TCGA-QH-A6X4-01A-51D-A32B-08	33719905	42795433	16333550	25	35079											
ZNF543	125919	broad.mit.edu	37	chr19	57835059	57835059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattttccaggtgtctgtgAcctttgaggatgtggctgtg	13	6	1	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:57835059A>G	ENST00000321545.4	+	2	373	c.28A>G	c.(28-30)Acc>Gcc	p.T10A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	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(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)		GGTGTCTGTGACCTTTGAGGA	0.493																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(28-30)Acc>Gcc		zinc finger protein 543							157	144	149					19																	57835059		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835059A>G	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.28A>G	19.37:g.57835059A>G	ENSP00000322545:p.Thr10Ala						p.T10A	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	373	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	10			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.28A>G	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329343	0.41197	.	.	ENSG00000178229	ENST00000321545	T	0.02812	4.15	1.68	1.68	0.24146	Krueppel-associated box (4);	.	.	.	.	T	0.12135	0.0295	M	0.73430	2.235	0.21416	N	0.999697	D	0.76494	0.999	D	0.83275	0.996	T	0.04467	-1.0949	9	0.59425	D	0.04	.	8.6852	0.34234	1.0:0.0:0.0:0.0	.	10	Q08ER8	ZN543_HUMAN	A	10	ENSP00000322545:T10A	ENSP00000322545:T10A	T	+	1	0	ZNF543	62526871	0.681000	0.27614	0.198000	0.23420	0.897000	0.52465	0.900000	0.28431	1.015000	0.39444	0.383000	0.25322	ACC		0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		27	11	0	0	0	1	0	27	11					G	57835059	A	G	57835059	3	3	392	1	0	0	0	0	1	0	0	0	17973	275	10	3	34	3	ZNF543	19	57835059	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08	15039626	57835059	1293924	26	35080											
ZNF773	374928	broad.mit.edu	37	chr19	58018648	58018648	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcaatgaatgtgggagattCtttagtgagaattccagcct	11	6	1	3	rs376286259		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:58018648C>A	ENST00000282292.4	+	4	1325	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	395					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(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		GTGGGAGATTCTTTAGTGAGA	0.423																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1183-1185)ttC>ttA		zinc finger protein 773							103	107	106					19																	58018648		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018648C>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1185C>A	19.37:g.58018648C>A	ENSP00000282292:p.Phe395Leu					ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L|ZNF773_ENST00000593916.1_Intron	p.F395L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1325	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	395					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.1185C>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	c	0.570	-0.841524	0.02692	.	.	ENSG00000152439	ENST00000282292	T	0.17691	2.26	1.03	-1.49	0.08718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.01188	-0.97	0.21184	N	0.999767	B;P	0.38280	0.003;0.625	B;B	0.38156	0.002;0.266	T	0.24368	-1.0162	9	0.54805	T	0.06	.	3.0804	0.06260	0.0:0.2637:0.24:0.4962	.	394;395	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	L	395	ENSP00000282292:F395L	ENSP00000282292:F395L	F	+	3	2	ZNF773	62710460	0.000000	0.05858	0.050000	0.19076	0.834000	0.47266	-3.003000	0.00651	-0.453000	0.07076	-0.676000	0.03789	TTC		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		42	31	1	0	1.8453e-21	1	1.89261e-21	42	31					A	58018648	C	A	58018648	3	1	392	1	0	0	0	0	1	0	0	0	18143	912	32	4	1199	4	ZNF773	19	58018648	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	183589	58018648	1110335	27	35081											
MYH7B	57644	broad.mit.edu	37	chr20	33578596	33578596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagccccacttcgtccGctgcattgtccccaacgaga	7	18	0	1	rs372796334		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr20:33578596G>A	ENST00000262873.7	+	21	2251	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	678	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACTTCGTCCGCTGCATTGTC	0.627																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2158-2160)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							55	62	60					20																	33578596		2049	4207	6256	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578596G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2159G>A	20.37:g.33578596G>A	ENSP00000262873:p.Arg720His						p.R720H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2251	+			678			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2159G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603233	0.87157	.	.	ENSG00000078814	ENST00000262873	D	0.90620	-2.7	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.38436	N	0.001684	D	0.97614	0.9218	H	0.99830	4.82	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	D	0.98223	1.0479	10	0.87932	D	0	.	14.3037	0.66371	0.0:0.1495:0.8505:0.0	.	678	A7E2Y1	MYH7B_HUMAN	H	720	ENSP00000262873:R720H	ENSP00000262873:R720H	R	+	2	0	MYH7B	33042257	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.601000	0.98297	2.422000	0.82143	0.561000	0.74099	CGC		0.627	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		26	26	0	0	0	1	0	26	26					A	33578596	G	A	33578596	3	1	392	1	0	0	0	0	1	0	0	0	10040	1087	38	1	2241	1	MYH7B	20	33578596	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		33578596	29446924	28	35082											
NCAM2	4685	broad.mit.edu	37	chr21	22710761	22710761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actacatatgagaatggtcaAgtcacactcgtatgtgatgc	9	8	2	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr21:22710761A>G	ENST00000400546.1	+	8	1200	c.951A>G	c.(949-951)caA>caG	p.Q317Q	NCAM2_ENST00000535285.1_Silent_p.Q342Q|NCAM2_ENST00000284894.7_Silent_p.Q175Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	317	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATGGTCAAGTCACACTCG	0.393																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(949-951)caA>caG		neural cell adhesion molecule 2							68	66	67					21																	22710761		1890	4099	5989	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22710761A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.951A>G	21.37:g.22710761A>G						NCAM2_ENST00000284894.7_Silent_p.Q175Q|NCAM2_ENST00000535285.1_Silent_p.Q342Q	p.Q317Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	8	1200	+		Lung NSC(9;0.195)	317			Ig-like C2-type 4.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.951A>G	CCDS42910.1																																																																																				0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		14	27	0	0	0	1	0	14	27					G	22710761	A	G	22710761	2	3	392	1	0	0	0	0	0	0	0	1	10203	69	3	3		3	NCAM2	21	22710761	Silent	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		22710761	25419134	29	35083											
PLA2G3	50487	broad.mit.edu	37	chr22	31535869	31535869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctccaactccacaccAcagtgtgccaggcatggtcc	8	15	1	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr22:31535869A>G	ENST00000215885.3	-	1	724	c.472T>C	c.(472-474)Tgg>Cgg	p.W158R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	158	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACTCCACACCACAGTGTGCCA	0.622																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(472-474)Tgg>Cgg		phospholipase A2, group III							98	87	91					22																	31535869		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31535869A>G	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.472T>C	22.37:g.31535869A>G	ENSP00000215885:p.Trp158Arg						p.W158R	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			1	724	-			158			Phospholipase A2-like.		O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.472T>C	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383649	0.82792	.	.	ENSG00000100078	ENST00000215885	T	0.60424	0.19	5.17	5.17	0.71159	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87576	0.2481	10	0.87932	D	0	-12.1672	12.5383	0.56154	1.0:0.0:0.0:0.0	.	158	Q9NZ20	PA2G3_HUMAN	R	158	ENSP00000215885:W158R	ENSP00000215885:W158R	W	-	1	0	PLA2G3	29865869	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.545000	0.82128	1.952000	0.56665	0.482000	0.46254	TGG		0.622	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		12	18	0	0	0	1	0	12	18					G	31535869	A	G	31535869	3	3	392	1	0	0	0	0	1	0	0	0	12000	159	6	3	1085	3	PLA2G3	22	31535869	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		31535869	19768697	30	35084											
GSTM2	2946	broad.mit.edu	37	chr1	110217422	110217422	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccgcttcctcccaagaccTgtgttcacaaagatggctgt	9	13	1	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:110217422T>C	ENST00000241337.4	+	8	671	c.621T>C	c.(619-621)ccT>ccC	p.P207P	GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P|GSTM2_ENST00000414179.2_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	207	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TCCCAAGACCTGTGTTCACAA	0.577																																						ENST00000241337.4																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(619-621)ccT>ccC		glutathione S-transferase mu 2 (muscle)							188	163	172					1																	110217422		2202	4299	6501	SO:0001819	synonymous_variant	2946							g.chr1:110217422T>C	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.621T>C	1.37:g.110217422T>C						GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P	p.P207P	NM_000848.3	NP_000839.1				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	671	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.621T>C	CCDS808.1																																																																																				0.577	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		4	55	0	0	0	1	0	4	55					C	110217422	T	C	110217422	2	2	393	1	0	0	0	0	0	0	0	1	6838	1567	55	3		3	GSTM2	1	110217422	Silent	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08		110217422	139033199	1	35085											
NBPF10	100132406	broad.mit.edu	37	chr1	145368516	145368516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagatgttattcgactccGtcaatgtactttgaactacc	7	9	1	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:145368516G>A	ENST00000369339.3	+	17	2101	c.1848G>A	c.(1846-1848)ccG>ccA	p.P616P	NBPF10_ENST00000342960.5_Silent_p.P3498P|NBPF10_ENST00000369338.1_Silent_p.P614P			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	793	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTCGACTCCGTCAATGTACT	0.448																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10492-10494)ccG>ccA		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145368516G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1848G>A	1.37:g.145368516G>A						NBPF10_ENST00000369338.1_Silent_p.P614P|NBPF10_ENST00000369339.2_Silent_p.P616P	p.P3498P	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10529	+	all_hematologic(923;0.032)		3498					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.10494G>A																																																																																					0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		56	416	0	0	0	1	0	56	416					A	145368516	G	A	145368516	2	1	393	1	0	0	0	0	0	0	0	1	10193	1132	40	1		1	NBPF10	1	145368516	Silent	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	35151094	145368516	103882105	2	35086											
ASTN1	460	broad.mit.edu	37	chr1	177001793	177001793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagttgtggccctgcaCgcgggcattgcgcaggctct	15	12	1	0	rs148328689		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:177001793C>T	ENST00000367654.3	-	3	875	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	222					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						TGGCCCTGCACGCGGGCATTG	0.602																																						ENST00000367654.2																			0				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						c.(664-666)Gtg>Atg		astrotactin 1							101	73	82					1																	177001793		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001793C>T	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.664G>A	1.37:g.177001793C>T	ENSP00000356626:p.Val222Met					ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M	p.V222M			O14525	ASTN1_HUMAN			3	677	-			222					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.085428	0.76642	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.85;2.85;2.44	5.62	5.62	0.85841	.	0.053876	0.64402	D	0.000001	T	0.17238	0.0414	N	0.08118	0	0.41941	D	0.990619	D;D;D	0.69078	0.997;0.995;0.988	P;P;P	0.51582	0.674;0.674;0.584	T	0.11060	-1.0603	10	0.46703	T	0.11	-19.3675	19.2616	0.93970	0.0:1.0:0.0:0.0	.	222;222;222	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	M	222	ENSP00000356629:V222M;ENSP00000354536:V222M;ENSP00000356626:V222M;ENSP00000395041:V222M	ENSP00000354536:V222M	V	-	1	0	ASTN1	175268416	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	4.768000	0.62293	2.614000	0.88457	0.655000	0.94253	GTG		0.602	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		4	52	0	0	0	1	0	4	52					T	177001793	C	T	177001793	3	4	393	1	0	0	0	0	1	0	0	0	1064	536	19	1	3308	1	ASTN1	1	177001793	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	31633277	177001793	72248828	3	35087											
EDEM3	80267	broad.mit.edu	37	chr1	184686700	184686700	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taagaagtaggtactttctgCaaattctggccttaaaggat	9	6	2	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:184686700C>G	ENST00000318130.8	-	12	1485	c.1219G>C	c.(1219-1221)Gca>Cca	p.A407P	EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	407					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						GTACTTTCTGCAAATTCTGGC	0.333																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1219-1221)Gca>Cca		ER degradation enhancer, mannosidase alpha-like 3							73	79	77					1																	184686700		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184686700C>G	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.1219G>C	1.37:g.184686700C>G	ENSP00000318147:p.Ala407Pro					EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	p.A407P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			12	1485	-			407					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.1219G>C	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364216	0.82463	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.72835	-0.69;-0.69	4.99	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.89095	3.005	0.80722	D	1	D	0.53619	0.961	P	0.60609	0.877	D	0.88223	0.2898	10	0.87932	D	0	.	15.5316	0.75968	0.0:0.8611:0.1389:0.0	.	407	Q9BZQ6	EDEM3_HUMAN	P	407;364	ENSP00000318147:A407P;ENSP00000356482:A364P	ENSP00000318147:A407P	A	-	1	0	EDEM3	182953323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	1.192000	0.43071	0.585000	0.79938	GCA		0.333	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		3	55	0	0	0	1	0	3	55					G	184686700	C	G	184686700	3	3	393	1	0	0	0	0	1	0	0	0	4913	710	25	4	1615	4	EDEM3	1	184686700	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	7684907	184686700	64563921	4	35088											
WDR75	84128	broad.mit.edu	37	chr2	190316559	190316559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttggatgtaaacttcatgCcctctttactcttgcccaag	7	11	3	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:190316559C>T	ENST00000314761.4	+	4	371	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	104						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAACTTCATGCCCTCTTTACT	0.383																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(310-312)gCc>gTc		WD repeat domain 75							190	193	192					2																	190316559		2203	4300	6503	SO:0001583	missense	84128					nucleolus		g.chr2:190316559C>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.311C>T	2.37:g.190316559C>T	ENSP00000314193:p.Ala104Val						p.A104V	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		4	371	+			104					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.311C>T	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558888	0.65538	.	.	ENSG00000115368	ENST00000314761	T	0.04502	3.61	5.14	3.21	0.36854	WD40 repeat-like-containing domain (1);	0.337163	0.31747	N	0.007122	T	0.05181	0.0138	L	0.50333	1.59	0.36873	D	0.889003	P;P	0.44627	0.839;0.839	B;B	0.36719	0.164;0.231	T	0.51004	-0.8760	10	0.16896	T	0.51	-4.4707	14.2206	0.65823	0.0:0.7168:0.2832:0.0	.	104;104	A8K330;Q8IWA0	.;WDR75_HUMAN	V	104	ENSP00000314193:A104V	ENSP00000314193:A104V	A	+	2	0	WDR75	190024804	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.664000	0.37439	1.344000	0.45657	0.655000	0.94253	GCC		0.383	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		4	149	0	0	0	1	0	4	149					T	190316559	C	T	190316559	3	4	393	1	0	0	0	0	1	0	0	0	17322	739	26	2	325	2	WDR75	2	190316559	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		190316559	52882814	5	35089											
C2orf88	84281	broad.mit.edu	37	chr2	191064711	191064711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctaggatggcttctccagTtaatgtcaaagaggaagtga	11	7	2	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:191064711T>C	ENST00000340623.4	+	2	536	c.125T>C	c.(124-126)gTt>gCt	p.V42A	C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A|C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	42						plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GCTTCTCCAGTTAATGTCAAA	0.458																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(124-126)gTt>gCt		chromosome 2 open reading frame 88							166	168	167					2																	191064711		1929	4133	6062	SO:0001583	missense	84281							g.chr2:191064711T>C	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"small membrane AKAP"	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.125T>C	2.37:g.191064711T>C	ENSP00000345107:p.Val42Ala					C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A|C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A	p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	536	+			42					D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	c.125T>C	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	T	1.001	-0.690986	0.03303	.	.	ENSG00000187699	ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.16	-10.3	0.00346	.	2.120180	0.03104	N	0.161610	T	0.22126	0.0533	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12708	-1.0537	8	.	.	.	4.4509	2.035	0.03538	0.3454:0.3491:0.1527:0.1529	.	42	Q9BSF0	CB088_HUMAN	A	42	ENSP00000380172:V42A;ENSP00000386976:V42A;ENSP00000386649:V42A;ENSP00000345107:V42A;ENSP00000405225:V42A	.	V	+	2	0	C2orf88	190772956	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.211000	0.02997	-3.066000	0.00255	-0.263000	0.10527	GTT		0.458	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		17	116	0	0	0	1	0	17	116					C	191064711	T	C	191064711	3	2	393	1	0	0	0	0	1	0	0	0	2202	1725	60	3	127	3	C2orf88	2	191064711	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	748152	191064711	52134662	6	35090											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			8	36	0	0	0	1	0	8	36					T	209113112	C	T	209113112	3	4	393	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	18048401	209113112	34086261	7	35091											
ODAM	54959	broad.mit.edu	37	chr4	71063664	71063664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacttaattcatggattccAcctttctctggaattttaca	4	11	2	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:71063664A>G	ENST00000396094.2	+	4	213	c.165A>G	c.(163-165)ccA>ccG	p.P55P		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	55					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						CATGGATTCCACCTTTCTCTG	0.423																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(163-165)ccA>ccG		odontogenic, ameloblast asssociated							127	122	123					4																	71063664		1848	4090	5938	SO:0001819	synonymous_variant	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063664A>G	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.165A>G	4.37:g.71063664A>G							p.P55P	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			4	213	+			55					Q8WWE5|Q9NWZ9	Silent	SNP	ENST00000396094.2	37	c.165A>G	CCDS3536.2																																																																																				0.423	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		10	108	0	0	0	1	0	10	108					G	71063664	A	G	71063664	2	3	393	1	0	0	0	0	0	0	0	1	10824	146	6	3		3	ODAM	4	71063664	Silent	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		71063664	120090612	8	35092											
ANTXR2	118429	broad.mit.edu	37	chr4	80940082	80940082	+	Frame_Shift_Del	DEL	T	T	-													gctgtgacaattaatgatccTgaaatgacagattttcctcc							TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:80940082delT	ENST00000307333.7	-	11	917	c.915delA	c.(913-915)tcafs	p.S305fs	ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.S305fs|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	305					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTAATGATCCTGAAATGACAG	0.303									Juvenile Hyaline Fibromatosis																													ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(913-915)tcfs		anthrax toxin receptor 2							67	58	61					4																	80940082		1792	4042	5834	SO:0001589	frameshift_variant	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80940082delT	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.915delA	4.37:g.80940082delT	ENSP00000306185:p.Ser305fs					ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.S305fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs	p.S305fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			11	1440	-			305					Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	ENST00000307333.7	37	c.915delA	CCDS47086.1																																																																																				0.303	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		2	4						2	4	---	---	---	---	-	80940082	T	-	80940082	7	5	393	1	0	1	0	1	0	0	0	0	712	1567	55	0	621	0	ANTXR2	4	80940082	Frame_Shift_Del	DEL	T	TCGA-QH-A6X5-01A-12D-A32B-08	9876418	80940082	110214194	9	35093											
ADH4	127	broad.mit.edu	37	chr4	100047870	100047870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagctttgggatagaatcTacacttttccaacctgtaat	6	10	1	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:100047870T>C	ENST00000265512.7	-	8	1067	c.993A>G	c.(991-993)gtA>gtG	p.V331V	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Silent_p.V350V|ADH4_ENST00000423445.1_Silent_p.V350V|ADH4_ENST00000505590.1_Silent_p.V350V	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	331					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GGATAGAATCTACACTTTTCC	0.373																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1048-1050)gtA>gtG		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						93	91	92					4																	100047870		2203	4300	6503	SO:0001819	synonymous_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047870T>C	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.993A>G	4.37:g.100047870T>C						RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.V331V|ADH4_ENST00000505590.1_Silent_p.V350V|ADH4_ENST00000423445.1_Silent_p.V350V	p.V350V			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	9	1215	-			331					A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	ENST00000265512.7	37	c.1050A>G	CCDS34032.1																																																																																				0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		6	72	0	0	0	1	0	6	72					C	100047870	T	C	100047870	2	2	393	1	0	0	0	0	0	0	0	1	310	1509	53	3		3	ADH4	4	100047870	Silent	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	19107788	100047870	91106406	10	35094											
LRBA	987	broad.mit.edu	37	chr4	151821338	151821338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtaccaatgaattccGtggacagataagtatagagc	10	7	0	4			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:151821338G>A	ENST00000357115.3	-	14	2030	c.1787C>T	c.(1786-1788)aCg>aTg	p.T596M	LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000535741.1_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGAATTCCGTGGACAGATA	0.408																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1786-1788)aCg>aTg		LPS-responsive vesicle trafficking, beach and anchor containing							112	104	107					4																	151821338		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151821338G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1787C>T	4.37:g.151821338G>A	ENSP00000349629:p.Thr596Met					LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M|LRBA_ENST00000357115.3_Missense_Mutation_p.T596M	p.T596M			P50851	LRBA_HUMAN			14	2260	-	all_hematologic(180;0.151)		596					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.1787C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742862	0.89573	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.59	5.59	0.84812	Armadillo-type fold (1);	0.073459	0.52532	D	0.000066	T	0.65133	0.2662	M	0.72894	2.215	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.989;0.999	P;P;P	0.56514	0.745;0.726;0.8	T	0.68265	-0.5454	10	0.72032	D	0.01	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	596;596;596	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	M	596	ENSP00000446299:T596M;ENSP00000421552:T596M;ENSP00000349629:T596M;ENSP00000422180:T596M	ENSP00000349629:T596M	T	-	2	0	LRBA	152040788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.803000	0.85983	2.614000	0.88457	0.655000	0.94253	ACG		0.408	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			11	51	0	0	0	1	0	11	51					A	151821338	G	A	151821338	3	1	393	1	0	0	0	0	1	0	0	0	8931	1145	40	1	6984	1	LRBA	4	151821338	Missense_Mutation	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	51773468	151821338	39332938	11	35095											
KIAA0922	23240	broad.mit.edu	37	chr4	154506755	154506755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaggagaccaagcacAtgttaaaggtacatatagta	8	7	0	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:154506755A>G	ENST00000409663.3	+	13	1352	c.1300A>G	c.(1300-1302)Atg>Gtg	p.M434V	KIAA0922_ENST00000409959.3_Missense_Mutation_p.M435V|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	434						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GACCAAGCACATGTTAAAGGT	0.323																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1303-1305)Atg>Gtg		KIAA0922							117	115	116					4																	154506755		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154506755A>G	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1300A>G	4.37:g.154506755A>G	ENSP00000386574:p.Met434Val					KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V|KIAA0922_ENST00000409663.3_Missense_Mutation_p.M434V	p.M435V	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			13	1352	+	all_hematologic(180;0.093)	Renal(120;0.118)	434					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1303A>G	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	7.195	0.592407	0.13812	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.77	1.8	0.24995	.	0.471517	0.24031	N	0.042192	T	0.46112	0.1376	N	0.15975	0.35	0.20975	N	0.999815	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22277	-1.0221	10	0.34782	T	0.22	-6.5364	3.6824	0.08316	0.6639:0.1343:0.0735:0.1283	.	64;435;435;434	A2VDJ0-2;A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;.;T131L_HUMAN	V	434;435;435;296	ENSP00000386574:M434V;ENSP00000409663:M435V;ENSP00000386787:M435V;ENSP00000240487:M296V	ENSP00000240487:M296V	M	+	1	0	KIAA0922	154726205	0.039000	0.19947	1.000000	0.80357	0.873000	0.50193	-0.664000	0.05292	0.132000	0.18615	0.533000	0.62120	ATG		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		24	69	0	0	0	1	0	24	69					G	154506755	A	G	154506755	3	3	393	1	0	0	0	0	1	0	0	0	8201	217	8	3	1353	3	KIAA0922	4	154506755	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	2685417	154506755	36647521	12	35096											
IPO11	51194	broad.mit.edu	37	chr5	61785996	61785996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacagtgttgattttgAtcagtggtttaaaaaccagc	9	6	1	3			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:61785996A>G	ENST00000325324.6	+	15	1581	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.D511G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	471					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)		GTTGATTTTGATCAGTGGTTT	0.284																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(1411-1413)gAt>gGt		importin 11							98	104	102					5																	61785996		2203	4296	6499	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61785996A>G	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.1412A>G	5.37:g.61785996A>G	ENSP00000316651:p.Asp471Gly					IPO11_ENST00000409296.3_Missense_Mutation_p.D511G|KIF2A_ENST00000509663.2_Intron	p.D471G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	15	1581	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	471					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1412A>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743640	0.69418	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.67171	-0.25;-0.25	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.44542	1.39	0.80722	D	1	P;P	0.48089	0.905;0.846	P;B	0.47470	0.548;0.42	T	0.66842	-0.5821	10	0.42905	T	0.14	.	14.9698	0.71223	1.0:0.0:0.0:0.0	.	511;471	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	G	471;511;41	ENSP00000316651:D471G;ENSP00000386992:D511G	ENSP00000316651:D471G	D	+	2	0	IPO11	61821753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.770000	0.91746	1.993000	0.58246	0.528000	0.53228	GAT		0.284	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		12	86	0	0	0	1	0	12	86					G	61785996	A	G	61785996	3	3	393	1	0	0	0	0	1	0	0	0	7793	333	12	3	1590	3	IPO11	5	61785996	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		61785996	119129264	13	35097											
EPB41L4A	64097	broad.mit.edu	37	chr5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtgaacctttgtaatcCgaggcctaaaaaacaaagca	8	8	0	2	rs539290653		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:111594984C>T	ENST00000261486.5	-	9	1013	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		20668	0.0		0.0	False		,,,				2504	0.001					ENST00000261486.5																			3	Substitution - Missense(3)	p.R246L(2)|p.R246Q(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(736-738)cGg>cAg		erythrocyte membrane protein band 4.1 like 4A							148	130	136					5																	111594984		1807	4092	5899	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111594984C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.737G>A	5.37:g.111594984C>T	ENSP00000261486:p.Arg246Gln						p.R246Q	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	9	1013	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	246			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.737G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046182	0.93740	.	.	ENSG00000129595	ENST00000261486	D	0.82081	-1.57	5.28	5.28	0.74379	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	M	0.64997	1.995	0.40889	D	0.984053	D	0.69078	0.997	P	0.55545	0.778	D	0.89465	0.3739	10	0.87932	D	0	.	18.0454	0.89330	0.0:1.0:0.0:0.0	.	246	Q9HCS5	E41LA_HUMAN	Q	246	ENSP00000261486:R246Q	ENSP00000261486:R246Q	R	-	2	0	EPB41L4A	111622883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.751000	0.68720	2.644000	0.89710	0.655000	0.94253	CGG		0.393	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			8	78	0	0	0	1	0	8	78					T	111594984	C	T	111594984	3	4	393	1	0	0	0	0	1	0	0	0	5155	652	23	1	1383	1	EPB41L4A	5	111594984	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	49808988	111594984	69320276	14	35098											
C5orf41	153222	broad.mit.edu	37	chr5	172535680	172535680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacttcaatatcttcaCggaagagaggtaaaagaaga	11	5	3	4	rs201664801		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:172535680C>T	ENST00000296953.2	+	5	1595	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CREBRF_ENST00000540014.1_Missense_Mutation_p.R426W	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	426					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)										AATATCTTCACGGAAGAGAGG	0.393																																						ENST00000540014.1																			0											c.(1276-1278)Cgg>Tgg		CREB3 regulatory factor		C	TRP/ARG	0,4406		0,0,2203	91	88	89		1276	4.5	1	5		89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C5orf41	NM_153607.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	426/640	172535680	2,13004	2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172535680C>T	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.1276C>T	5.37:g.172535680C>T	ENSP00000296953:p.Arg426Trp					CREBRF_ENST00000296953.2_Missense_Mutation_p.R426W	p.R426W			Q8IUR6	CE041_HUMAN			5	1595	+			426					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1276C>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044319	0.75732	0.0	2.33E-4	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.25579	1.79;1.79	5.49	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.44513	-0.9323	10	0.72032	D	0.01	.	16.9952	0.86365	0.1361:0.8639:0.0:0.0	.	426	Q8IUR6	CE041_HUMAN	W	426	ENSP00000296953:R426W;ENSP00000440075:R426W	ENSP00000296953:R426W	R	+	1	2	C5orf41	172468286	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	1.230000	0.32612	2.583000	0.87209	0.585000	0.79938	CGG		0.393	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		5	81	0	0	0	1	0	5	81					T	172535680	C	T	172535680	3	4	393	1	0	0	0	0	1	0	0	0	2300	527	19	1	1322	1	C5orf41	5	172535680	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	60940696	172535680	8379580	15	35099											
GIMAP8	155038	broad.mit.edu	37	chr7	150174536	150174537	+	Frame_Shift_Del	DEL	TT	TT	-													aggccatctttggagcagacTttacgaaatacgcgattatg							TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:150174536_150174537delTT	ENST00000307271.3	+	5	2240_2241	c.1666_1667delTT	c.(1666-1668)tttfs	p.F556fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	556	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGAGCAGACTTTACGAAATAC	0.495																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1666-1668)tfs		GTPase, IMAP family member 8																																				SO:0001589	frameshift_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174536_150174537delTT	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1666_1667delTT	7.37:g.150174536_150174537delTT	ENSP00000305107:p.Phe556fs						p.F556fs	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2240_2241	+			556						Frame_Shift_Del	DEL	ENST00000307271.3	37	c.1666_1667delTT	CCDS34777.1																																																																																				0.495	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		15	73						15	73	---	---	---	---	-	150174537	TT	-	150174536	7	5	393	1	0	1	0	1	0	0	0	0	6385	1609	56	0	1680	0	GIMAP8	7	150174536	Frame_Shift_Del	DEL	TT	TCGA-QH-A6X5-01A-12D-A32B-08		150174536	8964127	16	35100											
VIPR2	7434	broad.mit.edu	37	chr7	158823428	158823428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccctgtaatcccggctcGcggacggggtcgggcaccgg	16	14	0	1	rs201548495		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:158823428G>T	ENST00000262178.2	-	13	1381	c.1196C>A	c.(1195-1197)gCg>gAg	p.A399E	VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E|VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	399					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCCCGGCTCGCGGACGGGGT	0.701																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1195-1197)gCg>gAg		vasoactive intestinal peptide receptor 2							13	16	15					7																	158823428		2187	4292	6479	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158823428G>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12695	protein-coding gene	gene with protein product	"VIP and PACAP receptor 2"	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1196C>A	7.37:g.158823428G>T	ENSP00000262178:p.Ala399Glu					VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E|VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E	p.A399E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	13	1381	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	399					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.1196C>A	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095157	0.20471	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.63255	-0.03;-0.03;-0.03	5.23	0.649	0.17806	.	3.145760	0.01807	N	0.033202	T	0.46776	0.1410	N	0.22421	0.69	0.09310	N	0.999994	B	0.27380	0.177	B	0.22386	0.039	T	0.25641	-1.0126	10	0.41790	T	0.15	.	4.3355	0.11083	0.1525:0.5907:0.1349:0.1219	.	399	P41587	VIPR2_HUMAN	E	399;383;540	ENSP00000262178:A399E;ENSP00000366860:A383E;ENSP00000384497:A540E	ENSP00000262178:A399E	A	-	2	0	VIPR2	158516189	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.889000	0.39718	-0.117000	0.11872	0.484000	0.47621	GCG		0.701	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		2	3	1	0	0.0784	1	0.0784	2	3					T	158823428	G	T	158823428	3	4	393	1	0	0	0	0	1	0	0	0	17167	1087	38	4	124	4	VIPR2	7	158823428	Missense_Mutation	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	8648892	158823428	315235	17	35101											
HRCT1	646962	broad.mit.edu	37	chr9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA													cgccacacccctcaccacctINSccaccaccaccaccaccccc					rs112821450|rs143611048|rs79156963	byFrequency	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-303)ctccac>ctCCACCAccac	p.105_106insHH	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.L100H(1)	NS(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-300)cca>cCCACCAca		histidine rich carboxyl terminus 1																																				SO:0001652	inframe_insertion	646962					integral to membrane		g.chr9:35906583_35906584insCCACCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.306_311dupCCACCA	9.37:g.35906584_35906589dupCCACCA	ENSP00000346283:p.His104_His105dup						p.100_101insTT	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	395_396	+			100			His-rich.		B7ZBJ1	In_Frame_Ins	INS	ENST00000354323.2	37	c.299_300insCCACCA	CCDS35012.1																																																																																				0.668	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		4	9						4	9	---	---	---	---	CCACCA	35906584	-	CCACCA	35906583	7	5	393	1	0	1	1	0	0	0	0	0	7353	1551	54	0	301	0	HRCT1	9	35906583	In_Frame_Ins	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08		35906583	105306848	18	35102											
CCIN	881	broad.mit.edu	37	chr9	36170642	36170642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacagtgtactcagtgggCgggagcattgccccaaggcg	17	10	1	0	rs371614522		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:36170642C>T	ENST00000335119.2	+	1	1254	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	381					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)			ACTCAGTGGGCGGGAGCATTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		22378	0.001		0.0	False		,,,				2504	0.0					ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1141-1143)ggC>ggT		calicin		C		1,4405	2.1+/-5.4	0,1,2202	132	114	121		1143	-3.6	1	9		121	0,8600		0,0,4300	no	coding-synonymous	CCIN	NM_005893.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		381/589	36170642	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170642C>T	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.1143C>T	9.37:g.36170642C>T							p.G381G	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1254	+			381					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.1143C>T	CCDS6599.1																																																																																				0.562	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		4	81	0	0	0	1	0	4	81					T	36170642	C	T	36170642	2	4	393	1	0	0	0	0	0	0	0	1	2878	755	27	1		1	CCIN	9	36170642	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	264059	36170642	105042789	19	35103											
NPDC1	56654	broad.mit.edu	37	chr9	139934450	139934450	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccgggcactcgtacacCgtgaagtctccgtcctcatt	10	15	2	1	rs370852515		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:139934450C>T	ENST00000371601.4	-	8	1071	c.858G>A	c.(856-858)acG>acA	p.T286T	NPDC1_ENST00000371600.3_Silent_p.T364T|RP11-229P13.20_ENST00000457302.2_lincRNA|NPDC1_ENST00000488145.1_5'Flank	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	286						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACTCGTACACCGTGAAGTCTC	0.672													c|||	1	0.000199681	0.0	0.0014	5008	,	,		11404	0.0		0.0	False		,,,				2504	0.0					ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(1090-1092)acG>acA		neural proliferation, differentiation and control, 1				1,4403	2.1+/-5.4	0,1,2201	67	66	67		858	-7.9	0.4	9		67	0,8598		0,0,4299	no	coding-synonymous	NPDC1	NM_015392.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		286/326	139934450	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	56654					integral to membrane		g.chr9:139934450C>T	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.858G>A	9.37:g.139934450C>T						NPDC1_ENST00000371601.4_Silent_p.T286T	p.T364T			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	7	1764	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	286					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Silent	SNP	ENST00000371601.4	37	c.1092G>A	CCDS7024.1																																																																																				0.672	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		4	62	0	0	0	1	0	4	62					T	139934450	C	T	139934450	2	4	393	1	0	0	0	0	0	0	0	1	10573	639	23	1		1	NPDC1	9	139934450	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	103763808	139934450	1278981	20	35104											
MYST4	23522	broad.mit.edu	37	chr10	76781673	76781675	+	In_Frame_Del	DEL	AGA	AGA	-													ggaacaagctagctgctgggAgaaggaggaacaagaaatcc							TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr10:76781673_76781675delAGA	ENST00000287239.4	+	16	3545_3547	c.3056_3058delAGA	c.(3055-3060)gagaag>gag	p.K1020del	RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_In_Frame_Del_p.K728del|KAT6B_ENST00000372725.1_In_Frame_Del_p.K728del|KAT6B_ENST00000372711.1_In_Frame_Del_p.K837del|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372724.1_In_Frame_Del_p.K728del	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1020					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)										AGCTGCTGGGAGAAGGAGGAACA	0.498											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000287239.4																			0											c.(3055-3060)gag>g		K(lysine) acetyltransferase 6B																																				SO:0001651	inframe_deletion	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781673_76781675delAGA	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.3056_3058delAGA	10.37:g.76781673_76781675delAGA	ENSP00000287239:p.Lys1020del		OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	KAT6B_ENST00000372725.1_In_Frame_Del_p.EK727del|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_In_Frame_Del_p.EK836del|KAT6B_ENST00000372714.1_In_Frame_Del_p.EK727del|KAT6B_ENST00000372724.1_In_Frame_Del_p.EK727del	p.EK1019del	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			16	3545_3547	+			1019					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	In_Frame_Del	DEL	ENST00000287239.4	37	c.3056_3058delAGA	CCDS7345.1																																																																																				0.498	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		7	32						7	32	---	---	---	---	-	76781675	AGA	-	76781673	7	5	393	1	0	1	0	1	0	0	0	0	10105	304	11	0	3110	0	MYST4	10	76781673	In_Frame_Del	DEL	AGA	TCGA-QH-A6X5-01A-12D-A32B-08		76781673	58753074	21	35105											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3	1		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	4	4						4	4	---	---	---	---	G	7080211	-	G	7080210	8	5	393	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08		7080210	126771685	22	35106											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	14	8	1	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:65544747C>T	ENST00000358664.4	-	4	309	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000284165.6_Missense_Mutation_p.R60Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)	p.R60Q(5)		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)		GATTTGGGCCCGGGATGCCTG	0.498																																						ENST00000284165.6																			5	Substitution - Missense(5)	p.R60Q(5)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(178-180)cGg>cAg		MYC associated factor X							100	88	92					14																	65544747		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65544747C>T		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.179G>A	14.37:g.65544747C>T	ENSP00000351490:p.Arg60Gln					MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q	p.R60Q	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	4	327	-			60			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.179G>A	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661506	0.67700	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.32;-4.58;-4.58;-4.58;-4.58	5.72	3.91	0.45181	Helix-loop-helix DNA-binding (5);	0.119749	0.56097	D	0.000028	D	0.98492	0.9497	M	0.84326	2.69	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	0.87578	0.998;0.991;0.994;0.995;0.985	D	0.98698	1.0699	10	0.87932	D	0	-3.6574	11.4065	0.49900	0.0:0.8517:0.0:0.1483	.	60;51;51;60;60	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	Q	51;60;60;24;67;60;51;51;51	ENSP00000351175:R51Q;ENSP00000284165:R60Q;ENSP00000351490:R60Q;ENSP00000452405:R24Q;ENSP00000452378:R60Q;ENSP00000452286:R51Q;ENSP00000452197:R51Q;ENSP00000450818:R51Q	ENSP00000284165:R60Q	R	-	2	0	MAX	64614500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	0.774000	0.33427	-0.140000	0.14226	CGG		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		12	53	0	0	0	1	0	12	53					T	65544747	C	T	65544747	3	4	393	1	0	0	0	0	1	0	0	0	9339	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		65544747	41804793	23	35107											
GALC	2581	broad.mit.edu	37	chr14	88454498	88454498	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctcctacctgttgtctgCccatcaccacctatttccac	3	17	3	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:88454498C>A	ENST00000261304.2	-	3	424	c.318G>T	c.(316-318)ggG>ggT	p.G106G	GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Silent_p.G83G|GALC_ENST00000393569.2_Silent_p.G80G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	106					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTTGTCTGCCCATCACCAC	0.363																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(316-318)ggG>ggT		galactosylceramidase							102	91	94					14																	88454498		1863	4084	5947	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88454498C>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.318G>T	14.37:g.88454498C>A						GALC_ENST00000393569.2_Silent_p.G80G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000393568.4_Silent_p.G83G	p.G106G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			3	424	-			106					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.318G>T	CCDS9878.2																																																																																				0.363	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			3	46	1	0	0.00024832	1	0.000261054	3	46					A	88454498	C	A	88454498	2	1	393	1	0	0	0	0	0	0	0	1	6201	726	26	4		4	GALC	14	88454498	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	22909751	88454498	18895042	24	35108											
FAM83G	644815	broad.mit.edu	37	chr17	18880902	18880902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccctgacccacctgtgCctccttgtctgtggagcgct	12	15	1	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:18880902C>T	ENST00000388995.6	-	5	2300	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	693					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						CCCACCTGTGCCTCCTTGTCT	0.632																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2077-2079)Gca>Aca		family with sequence similarity 83, member G							37	42	40					17																	18880902		2150	4248	6398	SO:0001583	missense	644815							g.chr17:18880902C>T	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.2077G>A	17.37:g.18880902C>T	ENSP00000373647:p.Ala693Thr					SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron	p.A693T			A6ND36	FA83G_HUMAN			5	2300	-			693					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2077G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236902	0.39498	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11495	2.77;2.77	5.97	-6.63	0.01807	.	3.422580	0.00892	N	0.002241	T	0.04724	0.0128	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39840	-0.9594	10	0.05525	T	0.97	6.0472	7.5505	0.27793	0.1213:0.3616:0.0:0.5171	.	693	A6ND36	FA83G_HUMAN	T	693	ENSP00000373647:A693T;ENSP00000343279:A693T	ENSP00000343279:A693T	A	-	1	0	FAM83G	18821627	0.030000	0.19436	0.006000	0.13384	0.524000	0.34500	-0.338000	0.07842	-1.092000	0.03062	0.655000	0.94253	GCA		0.632	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			17	40	0	0	0	1	0	17	40					T	18880902	C	T	18880902	3	4	393	1	0	0	0	0	1	0	0	0	5639	739	26	2	402	2	FAM83G	17	18880902	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		18880902	62314308	25	35109											
CDK12	51755	broad.mit.edu	37	chr17	37672031	37672031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctatttttcaagccaAtctggaactggctcagctag	9	10	3	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:37672031A>G	ENST00000447079.4	+	9	2849	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TTTCAAGCCAATCTGGAACTG	0.403			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2815-2817)aAt>aGt		cyclin-dependent kinase 12							117	110	112					17																	37672031		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37672031A>G	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.2816A>G	17.37:g.37672031A>G	ENSP00000398880:p.Asn939Ser	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			9	2849	+			939			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2816A>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.685461	0.68157	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.64438	-0.1;-0.1	6.03	4.95	0.65309	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	0.48767	D	0.000173	T	0.44912	0.1316	N	0.11284	0.12	0.80722	D	1	P;B;B	0.38129	0.619;0.362;0.312	B;B;B	0.38921	0.285;0.185;0.116	T	0.51188	-0.8737	10	0.72032	D	0.01	-12.1634	11.8765	0.52550	0.9326:0.0:0.0674:0.0	.	938;939;939	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	S	939	ENSP00000407720:N939S;ENSP00000398880:N939S	ENSP00000407720:N939S	N	+	2	0	CDK12	34925557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	1.113000	0.41760	0.533000	0.62120	AAT		0.403	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		6	51	0	0	0	1	0	6	51					G	37672031	A	G	37672031	3	3	393	1	0	0	0	0	1	0	0	0	3128	101	4	3	2850	3	CDK12	17	37672031	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	18791129	37672031	43523179	26	35110											
KIAA0195	9772	broad.mit.edu	37	chr17	73487406	73487407	+	Frame_Shift_Del	DEL	AG	AG	-													cctgtgctgtgtggacaaacAggggatcctgtcatggccaa							TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:73487406_73487407delAG	ENST00000314256.7	+	13	1650_1651	c.1256_1257delAG	c.(1255-1257)cagfs	p.Q419fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	419						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)			GTGGACAAACAGGGGATCCTGT	0.589																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1255-1257)cfs		KIAA0195																																				SO:0001589	frameshift_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487406_73487407delAG		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.1256_1257delAG	17.37:g.73487406_73487407delAG	ENSP00000313885:p.Gln419fs					KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	p.Q419fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1650_1651	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		419					O75536|Q86XF1	Frame_Shift_Del	DEL	ENST00000314256.7	37	c.1256_1257delAG	CCDS32732.1																																																																																				0.589	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		14	86						14	86	---	---	---	---	-	73487407	AG	-	73487406	7	5	393	1	0	1	0	1	0	0	0	0	8160	188	7	0	1302	0	KIAA0195	17	73487406	Frame_Shift_Del	DEL	AG	TCGA-QH-A6X5-01A-12D-A32B-08	35815375	73487406	7707804	27	35111											
CIC	23152	broad.mit.edu	37	chr19	42791974	42791974	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgccaggtgaaggaggccCacttcaaggcccacccagat	11	15	1	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:42791974C>G	ENST00000575354.2	+	6	818	c.778C>G	c.(778-780)Cac>Gac	p.H260D	CIC_ENST00000572681.2_Missense_Mutation_p.H1169D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	260					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)				GAAGGAGGCCCACTTCAAGGC	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3505-3507)Cac>Gac		capicua transcriptional repressor							40	37	38					19																	42791974		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791974C>G	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.778C>G	19.37:g.42791974C>G	ENSP00000458663:p.His260Asp					CIC_ENST00000575354.2_Missense_Mutation_p.H260D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D	p.H1169D			Q96RK0	CIC_HUMAN			7	3573	+		Prostate(69;0.00682)	260			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3505C>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065523	0.36470	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	3.55	0.40652	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.75199	0.3817	H	0.94658	3.565	0.54753	D	0.999985	P	0.41131	0.739	P	0.45856	0.495	T	0.80464	-0.1371	8	0.87932	D	0	-10.9937	10.7434	0.46166	0.0:0.9065:0.0:0.0935	.	260	Q96RK0	CIC_HUMAN	D	260	.	ENSP00000160740:H260D	H	+	1	0	CIC	47483814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.594000	0.61041	1.159000	0.42565	0.555000	0.69702	CAC		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			3	7	0	0	0	1	0	3	7					G	42791974	C	G	42791974	3	3	393	1	0	0	0	0	1	0	0	0	3424	594	21	4	800	4	CIC	19	42791974	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		42791974	16337009	28	35112											
CD3EAP	10849	broad.mit.edu	37	chr19	45910448	45910448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgacgggtccagataCggagctgtggcttattcagg	16	9	1	2	rs34721735		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:45910448C>A	ENST00000309424.3	+	2	607	c.119C>A	c.(118-120)aCg>aAg	p.T40K	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K|PPP1R13L_ENST00000360957.5_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	40					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GGTCCAGATACGGAGCTGTGG	0.602																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(118-120)aCg>aAg		CD3e molecule, epsilon associated protein							64	63	63					19																	45910448		2203	4300	6503	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45910448C>A	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.119C>A	19.37:g.45910448C>A	ENSP00000310966:p.Thr40Lys					CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K	p.T40K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	607	+		all_neural(266;0.224)|Ovarian(192;0.231)	40					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.119C>A	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189516	0.57909	.	.	ENSG00000117877	ENST00000309424	T	0.12147	2.71	5.19	1.93	0.25924	.	0.560609	0.17941	N	0.156853	T	0.25494	0.0620	L	0.58101	1.795	0.09310	N	1	D;D	0.69078	0.996;0.997	P;D	0.66497	0.906;0.944	T	0.06215	-1.0839	10	0.33940	T	0.23	-1.7321	7.2167	0.25963	0.0:0.7208:0.0:0.2792	.	42;40	O15446-2;O15446	.;RPA34_HUMAN	K	40	ENSP00000310966:T40K	ENSP00000310966:T40K	T	+	2	0	CD3EAP	50602288	0.076000	0.21285	0.020000	0.16555	0.700000	0.40528	0.921000	0.28718	0.219000	0.20840	-0.258000	0.10820	ACG		0.602	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		3	60	1	0	0.004672	1	0.0047888	3	60					A	45910448	C	A	45910448	3	1	393	1	0	0	0	0	1	0	0	0	3012	536	19	4	125	4	CD3EAP	19	45910448	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	3118474	45910448	13218535	29	35113											
LILRB2	10288	broad.mit.edu	37	chr19	54782291	54782291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagtggggcatcagctgCtcccgccttggtcagaagga	15	11	2	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:54782291C>T	ENST00000391749.4	-	7	1352	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T|LILRB2_ENST00000391748.1_Missense_Mutation_p.A361T|LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	361	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCATCAGCTGCTCCCGCCTTG	0.577																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1081-1083)Gca>Aca		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							137	136	136					19																	54782291		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782291C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1081G>A	19.37:g.54782291C>T	ENSP00000375629:p.Ala361Thr					LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000391749.4_Missense_Mutation_p.A361T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T	p.A361T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1208	-	Ovarian(34;0.19)		361			Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1081G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517282	0.44763	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00705	5.81;5.81;5.81;5.81;5.81	2.54	-2.51	0.06365	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.877260	0.03080	N	0.158392	T	0.02970	0.0088	M	0.67625	2.065	0.09310	N	1	P;P;B	0.45902	0.698;0.868;0.345	P;P;B	0.59546	0.58;0.859;0.377	T	0.37197	-0.9716	10	0.56958	D	0.05	.	8.1169	0.30948	0.6178:0.3822:0.0:0.0	.	361;378;361	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	T	361;361;361;361;245	ENSP00000375628:A361T;ENSP00000319960:A361T;ENSP00000375629:A361T;ENSP00000375626:A361T;ENSP00000410117:A245T	ENSP00000319960:A361T	A	-	1	0	LILRB2	59474103	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-2.242000	0.01195	-0.489000	0.06716	0.442000	0.29010	GCA		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			5	68	0	0	0	1	0	5	68					T	54782291	C	T	54782291	3	4	393	1	0	0	0	0	1	0	0	0	8791	797	28	2	747	2	LILRB2	19	54782291	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	8871843	54782291	4346692	30	35114											
P2RY8	286530	broad.mit.edu	37	chrX	1584769	1584769	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcctccgctgctcccggCcgtgcgcctcctccgtgcgc	12	22	0	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:1584769C>G	ENST00000381297.4	-	2	893	c.683G>C	c.(682-684)gGc>gCc	p.G228A	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				CTGCTCCCGGCCGTGCGCCTC	0.642			T	CRLF2	"B-ALL, Downs associated ALL"																																	ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(682-684)gGc>gCc		purinergic receptor P2Y, G-protein coupled, 8							50	36	40					X																	1584769		2203	4294	6497	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584769C>G	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.683G>C	X.37:g.1584769C>G	ENSP00000370697:p.Gly228Ala						p.G228A	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	893	-		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)	228						Missense_Mutation	SNP	ENST00000381297.4	37	c.683G>C	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	4.125	0.021499	0.08006	.	.	ENSG00000182162	ENST00000381297	T	0.40225	1.04	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.398417	0.23656	U	0.045864	T	0.28830	0.0715	N	0.20807	0.61	0.09310	N	1	P	0.47484	0.896	B	0.41202	0.35	T	0.13045	-1.0524	10	0.49607	T	0.09	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	228	Q86VZ1	P2RY8_HUMAN	A	228	ENSP00000370697:G228A	ENSP00000370697:G228A	G	-	2	0	P2RY8	1544769	0.576000	0.26700	0.014000	0.15608	0.316000	0.28119	3.925000	0.56484	1.007000	0.39238	0.279000	0.19357	GGC		0.642	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		3	24	0	0	0	1	0	3	24					G	1584769	C	G	1584769	3	3	393	1	0	0	0	0	1	0	0	0	11355	739	26	4	400	4	P2RY8	23	1584769	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		1584769	153685791	31	35115											
GLRA2	2742	broad.mit.edu	37	chrX	14548194	14548194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaatgaaccggcagctAgtgaacattttgacagcctt	10	9	0	3			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:14548194A>G	ENST00000218075.4	+	1	545	c.15A>G	c.(13-15)ctA>ctG	p.L5L	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Silent_p.L5L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	5					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)			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)	ACCGGCAGCTAGTGAACATTT	0.378																																						ENST00000218075.4																			0				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						c.(13-15)ctA>ctG		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						129	111	117					X																	14548194		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14548194A>G		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.15A>G	X.37:g.14548194A>G						GLRA2_ENST00000355020.4_Silent_p.L5L|GLRA2_ENST00000443437.2_5'UTR	p.L5L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			1	545	+	Hepatocellular(33;0.128)		5					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.15A>G	CCDS14160.1																																																																																				0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			14	86	0	0	0	1	0	14	86					G	14548194	A	G	14548194	2	3	393	1	0	0	0	0	0	0	0	1	6455	407	15	3		3	GLRA2	23	14548194	Silent	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	12963425	14548194	140722366	32	35116											
PDHA1	5160	broad.mit.edu	37	chrX	19373476	19373476	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actacttccagggccagataTtcgaagcttacaacatggca	8	11	0	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:19373476T>A	ENST00000422285.2	+	7	718	c.613T>A	c.(613-615)Ttc>Atc	p.F205I	PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000379806.5_Missense_Mutation_p.F243I|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	205			F -> L (in X-LS; PDHAD). {ECO:0000269|PubMed:7887409, ECO:0000269|PubMed:8199595}.		acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GGGCCAGATATTCGAAGCTTA	0.463																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(727-729)Ttc>Atc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						150	140	143					X																	19373476		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373476T>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.613T>A	X.37:g.19373476T>A	ENSP00000394382:p.Phe205Ile					PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I|PDHA1_ENST00000422285.2_Missense_Mutation_p.F205I	p.F243I	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			8	872	+	Hepatocellular(33;0.183)		205		Y -> N (in PDHE1 deficiency).			A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.727T>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278197	0.95459	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	H	0.96996	3.92	0.80722	D	1	P;D;D;D;D	0.60575	0.728;0.965;0.988;0.987;0.988	P;P;P;D;P	0.69654	0.58;0.849;0.881;0.965;0.881	D	0.99589	1.0975	10	0.87932	D	0	-14.7248	15.2395	0.73458	0.0:0.0:0.0:1.0	.	174;212;205;243;205	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	I	243;212;174;205	ENSP00000369134:F243I;ENSP00000438550:F212I;ENSP00000440761:F174I;ENSP00000394382:F205I	ENSP00000369134:F243I	F	+	1	0	PDHA1	19283397	1.000000	0.71417	0.988000	0.46212	0.893000	0.52053	7.655000	0.83696	2.050000	0.60909	0.481000	0.45027	TTC		0.463	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			22	180	0	0	0	1	0	22	180					A	19373476	T	A	19373476	3	1	393	1	0	0	0	0	1	0	0	0	11664	1493	52	5	778	5	PDHA1	23	19373476	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	4825282	19373476	135897084	33	35117											
KLHL15	80311	broad.mit.edu	37	chrX	24024162	24024162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggatattctgaatgatggTatcggtatgtctccagcgtc	11	9	2	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:24024162T>C	ENST00000328046.8	-	3	904	c.649A>G	c.(649-651)Acc>Gcc	p.T217A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	217	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAATGATGGTATCGGTATGT	0.448																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(649-651)Acc>Gcc		kelch-like family member 15							198	182	187					X																	24024162		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024162T>C	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.649A>G	X.37:g.24024162T>C	ENSP00000332791:p.Thr217Ala						p.T217A	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			3	904	-			217			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.649A>G	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743463	0.15642	.	.	ENSG00000174010	ENST00000328046	T	0.68025	-0.3	5.52	4.36	0.52297	BTB/Kelch-associated (2);	0.092335	0.85682	D	0.000000	T	0.43478	0.1249	N	0.08118	0	0.47009	D	0.999281	B	0.02656	0.0	B	0.08055	0.003	T	0.33317	-0.9873	10	0.30078	T	0.28	.	10.0037	0.41944	0.0:0.0801:0.0:0.9199	.	217	Q96M94	KLH15_HUMAN	A	217	ENSP00000332791:T217A	ENSP00000332791:T217A	T	-	1	0	KLHL15	23934083	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.268000	0.43338	1.845000	0.53610	0.441000	0.28932	ACC		0.448	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		4	240	0	0	0	1	0	4	240					C	24024162	T	C	24024162	3	2	393	1	0	0	0	0	1	0	0	0	8371	1638	57	3	1173	3	KLHL15	23	24024162	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	4650686	24024162	131246398	34	35118											
TFE3	7030	broad.mit.edu	37	chrX	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C													ggggagcattctgggcaggtINScccccccctacatggaacgt							TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		29	98						29	98	---	---	---	---	C	48887952	-	C	48887951	7	5	393	1	0	1	1	0	0	0	0	0	15797	1654	58	0	285	0	TFE3	23	48887951	Frame_Shift_Ins	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08	24863789	48887951	106382609	35	35119											
CENPI	2491	broad.mit.edu	37	chrX	100400090	100400090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccatgaactctgtgtctAaactgatccactatgtaggg	9	9	2	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:100400090A>G	ENST00000372927.1	+	16	1880	c.1603A>G	c.(1603-1605)Aaa>Gaa	p.K535E	CENPI_ENST00000423383.1_Missense_Mutation_p.K535E|CENPI_ENST00000218507.5_Missense_Mutation_p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	535					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTCTGTGTCTAAACTGATCCA	0.398																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1603-1605)Aaa>Gaa		centromere protein I							198	171	180					X																	100400090		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100400090A>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1603A>G	X.37:g.100400090A>G	ENSP00000362018:p.Lys535Glu					CENPI_ENST00000218507.5_Missense_Mutation_p.K535E|CENPI_ENST00000423383.1_Missense_Mutation_p.K535E	p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			16	1880	+			535					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1603A>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	A	0.085	-1.177671	0.01633	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.36	0.384	0.16244	.	0.252219	0.44902	N	0.000410	T	0.04998	0.0134	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40289	-0.9571	9	0.02654	T	1	-2.5611	5.4167	0.16378	0.2696:0.1694:0.561:0.0	.	535;535	B4DZL4;Q92674	.;CENPI_HUMAN	E	535	.	ENSP00000218507:K535E	K	+	1	0	CENPI	100286746	0.839000	0.29477	0.731000	0.30826	0.386000	0.30323	0.976000	0.29462	-0.029000	0.13827	0.486000	0.48141	AAA		0.398	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		14	105	0	0	0	1	0	14	105					G	100400090	A	G	100400090	3	3	393	1	0	0	0	0	1	0	0	0	3233	363	13	3	1661	3	CENPI	23	100400090	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	51512139	100400090	54870470	36	35120											
TBC1D8B	54885	broad.mit.edu	37	chrX	106117115	106117115	+	Frame_Shift_Del	DEL	T	T	-													atgaaccagcattggtgaggTtttttgagaaacccatagat							TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:106117115delT	ENST00000357242.5	+	21	3457	c.3283delT	c.(3283-3285)tttfs	p.F1096fs	TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1096							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGGTGAGGTTTTTTGAGAA	0.408																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3283-3285)ttfs		TBC1 domain family, member 8B (with GRAM domain)							87	83	84					X																	106117115		2203	4300	6503	SO:0001589	frameshift_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106117115delT	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.3283delT	X.37:g.106117115delT	ENSP00000349781:p.Phe1096fs					TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	p.F1096fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			21	3457	+			1096					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Frame_Shift_Del	DEL	ENST00000357242.5	37	c.3283delT	CCDS14522.1																																																																																				0.408	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		15	107						15	107	---	---	---	---	-	106117115	T	-	106117115	7	5	393	1	0	1	0	1	0	0	0	0	15623	1725	60	0	3431	0	TBC1D8B	23	106117115	Frame_Shift_Del	DEL	T	TCGA-QH-A6X5-01A-12D-A32B-08	5717025	106117115	49153445	37	35121											
HSPG2	3339	broad.mit.edu	37	chr1	22172749	22172749	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgcagccgtgagccgcgggtCtgaataggggacaggacaga	17	10	1	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:22172749C>T	ENST00000374695.3	-	64	8396		c.e64-1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						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)	AGCCGCGGGTCTGAATAGGGG	0.647																																						ENST00000374695.3																			0				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						c.e64-1		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						13	16	15					1																	22172749		2187	4271	6458	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22172749C>T	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.8317-1G>A	1.37:g.22172749C>T						HSPG2_ENST00000430507.1_Splice_Site		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	64	8396	-		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)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37		CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631697	0.29068	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2719	0.82626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22045336	1.000000	0.71417	0.566000	0.28421	0.056000	0.15407	5.674000	0.68117	2.434000	0.82447	0.561000	0.74099	.		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	7	6	0	0	0	1	0	7	6					T	22172749	C	T	22172749	5	4	394	1	0	0	0	0	0	0	1	0	7430	927	32	2	4995	2	HSPG2	1	22172749	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		22172749	227077872	1	35122											
SPATA17	128153	broad.mit.edu	37	chr1	217915374	217915374	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagaagaaggctaacctCgaaagggaagagaagaaaag	14	4	0	4			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:217915374C>T	ENST00000366933.4	+	6	508	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	151						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGGCTAACCTCGAAAGGGAAG	0.438																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(451-453)ctC>ctT		spermatogenesis associated 17							147	135	139					1																	217915374		2203	4300	6503	SO:0001819	synonymous_variant	128153					cytoplasm	calmodulin binding	g.chr1:217915374C>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.453C>T	1.37:g.217915374C>T							p.L151L	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	6	508	+			151					A5D6N2	Silent	SNP	ENST00000366933.4	37	c.453C>T	CCDS1519.1																																																																																				0.438	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		22	39	0	0	0	1	0	22	39					T	217915374	C	T	217915374	2	4	394	1	0	0	0	0	0	0	0	1	15001	871	31	1		1	SPATA17	1	217915374	Silent	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	195742625	217915374	31335247	2	35123											
NT5C1B	93034	broad.mit.edu	37	chr2	18765354	18765354	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacagcttgcagaatacCttgacgaagcggaacgccgg	12	10	0	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:18765354C>A	ENST00000359846.2	-	6	1148	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	NT5C1B_ENST00000600945.1_Splice_Site_p.K357N|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357N|NT5C1B_ENST00000304081.4_Splice_Site_p.K297N|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	357					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCAGAATACCTTGACGAAGC	0.562																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.e5+1		5'-nucleotidase, cytosolic IB							93	92	93					2																	18765354		2203	4300	6503	SO:0001630	splice_region_variant	93034							g.chr2:18765354C>A	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1071+1G>T	2.37:g.18765354C>A						NT5C1B_ENST00000359846.2_Splice_Site_p.K357_splice|NT5C1B_ENST00000600945.1_Splice_Site_p.K357_splice|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357_splice	p.K297_splice	NM_033253.3	NP_150278.2					5	991	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Splice_Site	SNP	ENST00000359846.2	37	c.891_splice	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176192	0.94846	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91068	-2.78	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.79108	0.992;0.992;0.988;0.985;0.99;0.962;0.979;0.992;0.988	D	0.97244	0.9893	10	0.87932	D	0	-12.3257	19.9414	0.97163	0.0:1.0:0.0:0.0	.	340;374;297;340;299;149;297;357;357	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	N	357;299;297;357	ENSP00000412639:K299N	ENSP00000305979:K297N	K	-	3	2	NT5C1B-RDH14;NT5C1B	18628835	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.393000	0.79851	2.779000	0.95612	0.650000	0.86243	AAG		0.562	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		Missense_Mutation	30	41	1	0	8.4185e-14	1	9.18382e-14	30	41					A	18765354	C	A	18765354	5	1	394	1	0	0	0	0	0	0	1	0	10686	695	24	4	781	4	NT5C1B	2	18765354	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		18765354	224434019	3	35124											
RGPD4	285190	broad.mit.edu	37	chr2	108487634	108487634	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggagaagaaggtgaaaaAgttctgtattcacagggggt	14	3	2	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:108487634A>G	ENST00000408999.3	+	20	3251	c.3174A>G	c.(3172-3174)aaA>aaG	p.K1058K	RGPD4_ENST00000354986.4_Silent_p.K1058K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1058	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGGTGAAAAAGTTCTGTATT	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3172-3174)aaA>aaG		RANBP2-like and GRIP domain containing 4							12	9	10					2																	108487634		683	1568	2251	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108487634A>G	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.3174A>G	2.37:g.108487634A>G						RGPD4_ENST00000354986.4_Silent_p.K1058K	p.K1058K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3251	+			1058			RanBD1 1.		B9A029	Silent	SNP	ENST00000408999.3	37	c.3174A>G	CCDS46381.1																																																																																				0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		14	512	0	0	0	1	0	14	512					G	108487634	A	G	108487634	2	3	394	1	0	0	0	0	0	0	0	1	13288	69	3	3		3	RGPD4	2	108487634	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	89722280	108487634	134711739	4	35125											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	33	0	0	0	1	0	18	33					T	209113112	C	T	209113112	3	4	394	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	100625478	209113112	34086261	5	35126											
TIGIT	201633	broad.mit.edu	37	chr3	114014419	114014419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggcacaatagaaacaaCggggaacatttctgcagaga	11	8	1	2	rs376892258		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:114014419C>T	ENST00000486257.1	+	3	346	c.89C>T	c.(88-90)aCg>aTg	p.T30M	TIGIT_ENST00000481065.1_Missense_Mutation_p.T97M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	30	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						ATAGAAACAACGGGGAACATT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20426	0.001		0.0	False		,,,				2504	0.0					ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(289-291)aCg>aTg		T cell immunoreceptor with Ig and ITIM domains							155	156	156					3																	114014419		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014419C>T	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.89C>T	3.37:g.114014419C>T	ENSP00000419085:p.Thr30Met					TIGIT_ENST00000486257.1_Missense_Mutation_p.T30M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M	p.T97M			Q495A1	TIGIT_HUMAN			3	2905	+			30			Ig-like V-type.		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.290C>T	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732962	0.15507	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.66099	0.5;-0.19;-0.19;-0.19;0.5	4.45	-4.76	0.03229	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.506000	0.03973	N	0.292060	T	0.29093	0.0723	N	0.00926	-1.1	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.21143	-1.0254	10	0.46703	T	0.11	0.2116	5.9208	0.19080	0.1483:0.3104:0.0:0.5413	.	30	Q495A1	TIGIT_HUMAN	M	9;97;30;30;9	ENSP00000418917:T9M;ENSP00000420552:T97M;ENSP00000419085:T30M;ENSP00000373167:T30M;ENSP00000419706:T9M	ENSP00000373167:T30M	T	+	2	0	TIGIT	115497109	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-1.953000	0.01526	-0.792000	0.04480	-0.995000	0.02519	ACG		0.502	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		11	166	0	0	0	1	0	11	166					T	114014419	C	T	114014419	3	4	394	1	0	0	0	0	1	0	0	0	15899	536	19	1	95	1	TIGIT	3	114014419	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		114014419	84008011	6	35127											
PLXNA1	5361	broad.mit.edu	37	chr3	126708285	126708285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcacgtccaagatcgtGcggctctgtgtggacgaccc	11	13	3	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126708285G>A	ENST00000393409.2	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V	PLXNA1_ENST00000251772.4_Silent_p.V260V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	283	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		CCAAGATCGTGCGGCTCTGTG	0.602																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(847-849)gtG>gtA		plexin A1							136	134	135					3																	126708285		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708285G>A	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.849G>A	3.37:g.126708285G>A						PLXNA1_ENST00000251772.4_Silent_p.V260V	p.V283V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	849	+			283			Sema.			Silent	SNP	ENST00000393409.2	37	c.849G>A	CCDS33847.2																																																																																				0.602	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		11	201	0	0	0	1	0	11	201					A	126708285	G	A	126708285	2	1	394	1	0	0	0	0	0	0	0	1	12119	1306	46	2		2	PLXNA1	3	126708285	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	12693866	126708285	71314145	7	35128											
DCHS2	54798	broad.mit.edu	37	chr4	155236942	155236942	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccctggtaacaaactcccCtggattttggttttctttca	6	11	2	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr4:155236942C>G	ENST00000357232.4	-	15	3852	c.3853G>C	c.(3853-3855)Ggg>Cgg	p.G1285R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11. {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)		ACAAACTCCCCTGGATTTTGG	0.368																																						ENST00000357232.3																			0				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						c.(3853-3855)Ggg>Cgg		dachsous cadherin-related 2							70	72	72					4																	155236942		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155236942C>G	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.3853G>C	4.37:g.155236942C>G	ENSP00000349768:p.Gly1285Arg						p.G1285R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3852	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1285			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3853G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022882	0.54683	.	.	ENSG00000197410	ENST00000357232	T	0.69806	-0.43	5.53	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.85026	0.5603	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88718	0.3227	10	0.87932	D	0	.	14.8786	0.70513	0.0:0.9307:0.0:0.0693	.	1285	Q6V1P9	PCD23_HUMAN	R	1285	ENSP00000349768:G1285R	ENSP00000349768:G1285R	G	-	1	0	DCHS2	155456392	0.999000	0.42202	0.710000	0.30468	0.154000	0.21943	4.484000	0.60271	1.484000	0.48361	0.585000	0.79938	GGG		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	61	0	0	0	1	0	3	61					G	155236942	C	G	155236942	3	3	394	1	0	0	0	0	1	0	0	0	4288	681	24	4	4941	4	DCHS2	4	155236942	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		155236942	35917334	8	35129											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-													tttcaagaaaaaagtcgagaAtatgatagattatatgaaga							TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					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.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(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)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		11	Substitution - Missense(4)|Deletion - In frame(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Whole gene deletion(1)|Unknown(1)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)	endometrium(7)|lung(2)|large_intestine(1)|central_nervous_system(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						c.(1384-1398)gaa>ga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589623_67589634delATATGATAGATT	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.1386_1397delATATGATAGATT	5.37:g.67589623_67589634delATATGATAGATT	ENSP00000428056:p.Tyr463_Leu466del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del	p.EYDRL462del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2002_2013	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	462					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1386_1397delATATGATAGATT	CCDS3993.1																																																																																				0.283	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		11	25						11	25	---	---	---	---	-	67589634	ATATGATAGATT	-	67589623	7	5	394	1	0	1	0	1	0	0	0	0	11918	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-QH-A6X8-01A-12D-A32B-08		67589623	113325637	9	35130											
KDM3B	51780	broad.mit.edu	37	chr5	137727662	137727662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctttctgtcctccccgGcagatttttcacaggagaac	10	13	2	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:137727662G>A	ENST00000314358.5	+	8	2541	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	781					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						GTCCTCCCCGGCAGATTTTTC	0.537																																						ENST00000314358.5																			0				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						c.(2341-2343)Gca>Aca		lysine (K)-specific demethylase 3B							176	195	188					5																	137727662		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727662G>A	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.2341G>A	5.37:g.137727662G>A	ENSP00000326563:p.Ala781Thr					KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	p.A781T	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			8	2541	+			781					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.2341G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931050	0.34096	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.72167	-0.07;-0.63	5.52	3.7	0.42460	.	0.402893	0.24745	N	0.035956	T	0.51075	0.1653	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44128	-0.9348	10	0.26408	T	0.33	-8.0862	11.3009	0.49304	0.1508:0.0:0.8492:0.0	.	437;781	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	T	781;571;437	ENSP00000326563:A781T;ENSP00000378335:A437T	ENSP00000326563:A781T	A	+	1	0	KDM3B	137755561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.277000	0.51654	1.466000	0.48025	0.655000	0.94253	GCA		0.537	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	346	0	0	0	1	0	5	346					A	137727662	G	A	137727662	3	1	394	1	0	0	0	0	1	0	0	0	8127	1203	42	2	2371	2	KDM3B	5	137727662	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	70138039	137727662	43187598	10	35131											
PCDHB1	29930	broad.mit.edu	37	chr5	140432022	140432022	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acattgacattcaagctacaGatggtggaggcctctctgcc	10	11	2	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:140432022G>C	ENST00000306549.3	+	1	1044	c.967G>C	c.(967-969)Gat>Cat	p.D323H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	323	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)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGCTACAGATGGTGGAGG	0.488																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(967-969)Gat>Cat									123	119	120					5																	140432022		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432022G>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.967G>C	5.37:g.140432022G>C	ENSP00000307234:p.Asp323His						p.D323H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1044	+			323			Cadherin 3.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.967G>C	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442132	0.63067	.	.	ENSG00000171815	ENST00000306549	T	0.80824	-1.42	6.17	5.3	0.74995	Cadherin (5);Cadherin-like (1);	0.000000	0.48767	D	0.000166	D	0.95072	0.8404	H	0.99960	5.065	0.51767	D	0.999939	D	0.76494	0.999	D	0.66602	0.945	D	0.97933	1.0321	10	0.87932	D	0	.	16.8113	0.85720	0.0:0.0:0.8702:0.1298	.	323	Q9Y5F3	PCDB1_HUMAN	H	323	ENSP00000307234:D323H	ENSP00000307234:D323H	D	+	1	0	PCDHB1	140412206	1.000000	0.71417	0.342000	0.25602	0.983000	0.72400	9.813000	0.99286	1.623000	0.50342	0.655000	0.94253	GAT		0.488	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		4	99	0	0	0	1	0	4	99					C	140432022	G	C	140432022	3	2	394	1	0	0	0	0	1	0	0	0	11534	942	33	4	969	4	PCDHB1	5	140432022	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	2704360	140432022	40483238	11	35132											
DSP	1832	broad.mit.edu	37	chr6	7580378	7580378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaggaggctgccaagAccattcaggacaaaaataag	11	10	1	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:7580378A>G	ENST00000379802.3	+	23	4296	c.3955A>G	c.(3955-3957)Acc>Gcc	p.T1319A	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1319	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)		GGCTGCCAAGACCATTCAGGA	0.517																																						ENST00000379802.3																			0				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						c.(3955-3957)Acc>Gcc		desmoplakin							68	73	71					6																	7580378		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580378A>G	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.3955A>G	6.37:g.7580378A>G	ENSP00000369129:p.Thr1319Ala					DSP_ENST00000418664.2_Intron	p.T1319A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4296	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1319			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3955A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	6.452	0.451573	0.12223	.	.	ENSG00000096696	ENST00000379802	D	0.90955	-2.76	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000008	D	0.87216	0.6122	N	0.25647	0.755	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.85224	0.1028	10	0.10902	T	0.67	.	14.9066	0.70724	1.0:0.0:0.0:0.0	.	1319	P15924	DESP_HUMAN	A	1319	ENSP00000369129:T1319A	ENSP00000369129:T1319A	T	+	1	0	DSP	7525377	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.974000	0.76122	2.018000	0.59344	0.451000	0.29950	ACC		0.517	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	107	0	0	0	1	0	4	107					G	7580378	A	G	7580378	3	3	394	1	0	0	0	0	1	0	0	0	4781	275	10	3	4045	3	DSP	6	7580378	Missense_Mutation	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08		7580378	163534689	12	35133											
DNAH8	1769	broad.mit.edu	37	chr6	38897333	38897333	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacacacttggaggacaGcctttccttgggccgacccc	10	16	0	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:38897333G>C	ENST00000359357.3	+	73	10768	c.10514G>C	c.(10513-10515)aGc>aCc	p.S3505T	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3505	AAA 5. {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						TTGGAGGACAGCCTTTCCTTG	0.418																																						ENST00000359357.3																			0				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						c.(10513-10515)aGc>aCc		dynein, axonemal, heavy chain 8							145	140	142					6																	38897333		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38897333G>C	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.10514G>C	6.37:g.38897333G>C	ENSP00000352312:p.Ser3505Thr					RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA	p.S3505T							73	10768	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10514G>C		.	.	.	.	.	.	.	.	.	.	G	17.22	3.334636	0.60853	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.22134	1.97;1.97;1.97	5.65	3.76	0.43208	.	0.185791	0.64402	D	0.000018	T	0.26304	0.0642	M	0.80982	2.52	0.38175	D	0.939433	P	0.38148	0.62	P	0.47864	0.559	T	0.10636	-1.0621	10	0.66056	D	0.02	.	13.058	0.58992	0.0699:0.1801:0.75:0.0	.	3505	Q96JB1	DYH8_HUMAN	T	3710;3710;3505;3469	ENSP00000333363:S3710T;ENSP00000352312:S3505T;ENSP00000402294:S3469T	ENSP00000333363:S3710T	S	+	2	0	DNAH8	39005311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.079000	0.64431	1.380000	0.46344	0.555000	0.69702	AGC		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	130	0	0	0	1	0	10	130					C	38897333	G	C	38897333	3	2	394	1	0	0	0	0	1	0	0	0	4607	971	34	4	10796	4	DNAH8	6	38897333	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	31316955	38897333	132217734	13	35134											
MDFI	4188	broad.mit.edu	37	chr6	41621201	41621201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggctctggcgagtgtgCcgactgcgacctgccctgcg	15	14	1	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:41621201C>T	ENST00000373050.4	+	4	633	c.446C>T	c.(445-447)gCc>gTc	p.A149V				Q99750	MDFI_HUMAN	MyoD family inhibitor	210					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGCGAGTGTGCCGACTGCGAC	0.662																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(445-447)gCc>gTc		MyoD family inhibitor							115	96	102					6																	41621201		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621201C>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.446C>T	6.37:g.41621201C>T	ENSP00000362141:p.Ala149Val						p.A149V			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	633	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		210						Missense_Mutation	SNP	ENST00000373050.4	37	c.446C>T		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262524	0.39995	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050	.	.	.	5.1	4.22	0.49857	.	0.436359	0.24330	N	0.039463	T	0.35998	0.0951	L	0.50333	1.59	0.37517	D	0.91739	B	0.28082	0.2	B	0.24155	0.051	T	0.38112	-0.9676	9	0.40728	T	0.16	-2.0631	12.6408	0.56709	0.0:0.9194:0.0:0.0806	.	210	Q99750	MDFI_HUMAN	V	210;210;210;210;210;149	.	ENSP00000230321:A210V	A	+	2	0	MDFI	41729179	0.996000	0.38824	0.984000	0.44739	0.414000	0.31173	2.852000	0.48310	2.371000	0.80710	0.555000	0.69702	GCC		0.662	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		4	99	0	0	0	1	0	4	99					T	41621201	C	T	41621201	3	4	394	1	0	0	0	0	1	0	0	0	9404	739	26	2	643	2	MDFI	6	41621201	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	2723868	41621201	129493866	14	35135											
SUPT3H	8464	broad.mit.edu	37	chr6	45289563	45289563	+	Frame_Shift_Del	DEL	T	T	-													cattcagcagtggaaggataTtgtgataacaatagggaaaa							TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:45289563delT	ENST00000371460.1	-	4	421	c.104delA	c.(103-105)aatfs	p.N35fs	SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	346					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGGAAGGATATTGTGATAACA	0.343																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(103-105)atfs		suppressor of Ty 3 homolog (S. cerevisiae)							46	45	45					6																	45289563		2202	4299	6501	SO:0001589	frameshift_variant	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:45289563delT	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371460.1:c.104delA	6.37:g.45289563delT	ENSP00000360515:p.Asn35fs					SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron	p.N35fs	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			4	421	-			346					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Frame_Shift_Del	DEL	ENST00000371460.1	37	c.104delA	CCDS34466.1																																																																																				0.343	SUPT3H-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106910.3	NM_181356		2	4						2	4	---	---	---	---	-	45289563	T	-	45289563	7	5	394	1	0	1	0	1	0	0	0	0	15394	1493	52	0	922	0	SUPT3H	6	45289563	Frame_Shift_Del	DEL	T	TCGA-QH-A6X8-01A-12D-A32B-08	3668362	45289563	125825504	15	35136											
FAM83B	222584	broad.mit.edu	37	chr6	54805863	54805863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttagacaaccagaaaaGcccaaagaagatttgctgaa	9	8	0	5			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:54805863G>A	ENST00000306858.7	+	5	2210	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	698								p.K698N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAGAAAAGCCCAAAGAAG	0.393																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.K698N(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(2092-2094)aaG>aaA		family with sequence similarity 83, member B							83	85	84					6																	54805863		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54805863G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2094G>A	6.37:g.54805863G>A							p.K698K	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	2210	+	Lung NSC(77;0.0178)|Renal(3;0.122)		698					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2094G>A	CCDS34479.1																																																																																				0.393	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		19	40	0	0	0	1	0	19	40					A	54805863	G	A	54805863	2	1	394	1	0	0	0	0	0	0	0	1	5634	962	34	2		2	FAM83B	6	54805863	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	9516300	54805863	116309204	16	35137											
COL12A1	1303	broad.mit.edu	37	chr6	75899313	75899313	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaattttttttattgcagCaagaagttcatccctttggt	8	6	1	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:75899313C>G	ENST00000322507.8	-	6	922	c.613G>C	c.(613-615)Gct>Cct	p.A205P	COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	205	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						TTTATTGCAGCAAGAAGTTCA	0.333																																						ENST00000322507.8																			0				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						c.(613-615)Gct>Cct		collagen, type XII, alpha 1							121	115	116					6																	75899313		1824	4077	5901	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75899313C>G	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.613G>C	6.37:g.75899313C>G	ENSP00000325146:p.Ala205Pro					COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P|COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron	p.A205P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			6	922	-			205			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.613G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543497	0.27563	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78816	-1.21;-1.21;-1.21	5.65	2.7	0.31948	von Willebrand factor, type A (3);	0.281784	0.30126	N	0.010347	T	0.52468	0.1736	L	0.50847	1.595	0.25887	N	0.983523	P	0.42584	0.784	B	0.39562	0.303	T	0.41142	-0.9525	10	0.33940	T	0.23	.	8.2007	0.31424	0.3954:0.5346:0.0:0.07	.	205	Q99715	COCA1_HUMAN	P	205	ENSP00000325146:A205P;ENSP00000412864:A205P;ENSP00000421216:A205P	ENSP00000325146:A205P	A	-	1	0	COL12A1	75956033	0.994000	0.37717	1.000000	0.80357	0.872000	0.50106	0.823000	0.27366	0.716000	0.32124	-0.136000	0.14681	GCT		0.333	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		34	84	0	0	0	1	0	34	84					G	75899313	C	G	75899313	3	3	394	1	0	0	0	0	1	0	0	0	3669	710	25	4	8822	4	COL12A1	6	75899313	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	21093450	75899313	95215754	17	35138											
TCP10L2	401285	broad.mit.edu	37	chr6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatcttcccgaagtcTgcaaaactccggtggcagaa	9	13	2	1	rs2989545	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(682-684)cTg>cCg		t-complex 10-like 2							22	25	24					6																	167592524		692	1586	2278	SO:0001583	missense	401285							g.chr6:167592524T>C		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.683T>C	6.37:g.167592524T>C	ENSP00000355797:p.Leu228Pro						p.L228P	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	814	+			228						Missense_Mutation	SNP	ENST00000366832.2	37	c.683T>C	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	N	3.564	-0.089011	0.07097	.	.	ENSG00000166984	ENST00000366832	T	0.19669	2.13	1.87	0.683	0.17998	.	.	.	.	.	T	0.03095	0.0091	N	0.11201	0.11	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	8	0.48119	T	0.1	.	5.4648	0.16637	0.0:0.1826:0.0:0.8174	rs2989545;rs59337236	228	B9ZVM9	TCP2L_HUMAN	P	228	ENSP00000355797:L228P	ENSP00000283507:L228P	L	+	2	0	TCP10L2	167512514	0.002000	0.14202	0.006000	0.13384	0.011000	0.07611	0.093000	0.15086	-0.165000	0.10908	-1.687000	0.00730	CTG		0.602	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		3	21	0	0	0	1	0	3	21					C	167592524	T	C	167592524	3	2	394	1	0	0	0	0	1	0	0	0	15709	1580	55	3	701	3	TCP10L2	6	167592524	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	91693211	167592524	3522543	18	35139											
RADIL	55698	broad.mit.edu	37	chr7	4843373	4843373	+	Frame_Shift_Del	DEL	T	T	-													gtggggggttttcgtaggacTccagaacatcctctgcaggg							TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:4843373delT	ENST00000399583.3	-	11	2490	c.2303delA	c.(2302-2304)gagfs	p.E768fs	RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	768					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGTAGGACTCCAGAACATC	0.642																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2302-2304)ggfs		Ras association and DIL domains							18	25	23					7																	4843373		2049	4175	6224	SO:0001589	frameshift_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4843373delT	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2303delA	7.37:g.4843373delT	ENSP00000382492:p.Glu768fs					RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs	p.E768fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	11	2490	-		Ovarian(82;0.0175)	768					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Frame_Shift_Del	DEL	ENST00000399583.3	37	c.2303delA	CCDS43544.1																																																																																				0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		2	4						2	4	---	---	---	---	-	4843373	T	-	4843373	7	5	394	1	0	1	0	1	0	0	0	0	12997	1551	54	0	944	0	RADIL	7	4843373	Frame_Shift_Del	DEL	T	TCGA-QH-A6X8-01A-12D-A32B-08		4843373	154295290	19	35140											
KDELR2	11014	broad.mit.edu	37	chr7	6505724	6505724	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgtaatgtacaagtagaaGaagtcacagtataggatggt	11	3	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:6505724G>A	ENST00000258739.4	-	4	766	c.582C>T	c.(580-582)ttC>ttT	p.F194F	KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	194					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAAGTAGAAGAAGTCACAGT	0.478																																						ENST00000258739.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(580-582)ttC>ttT		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							98	100	99					7																	6505724		2203	4300	6503	SO:0001819	synonymous_variant	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6505724G>A	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.582C>T	7.37:g.6505724G>A						KDELR2_ENST00000490996.1_Intron|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	p.F194F	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	4	766	-		Ovarian(82;0.0776)	194					A4D2P4|Q6IPC5|Q96E30	Silent	SNP	ENST00000258739.4	37	c.582C>T	CCDS5351.1																																																																																				0.478	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			22	45	0	0	0	1	0	22	45					A	6505724	G	A	6505724	2	1	394	1	0	0	0	0	0	0	0	1	8120	933	33	2		2	KDELR2	7	6505724	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	1662351	6505724	152632939	20	35141											
CALN1	83698	broad.mit.edu	37	chr7	71252776	71252776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctactccatgccgctcCggagtatctggttggctgca	12	13	1	0	rs370771019		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:71252776C>T	ENST00000329008.5	-	6	942	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q|CALN1_ENST00000395275.2_Missense_Mutation_p.R257Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGCCGCTCCGGAGTATCTG	0.582																																						ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(769-771)cGg>cAg		calneuron 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82	65	71		644,770	5	1	7		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CALN1	NM_001017440.2,NM_031468.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	215/220,257/262	71252776	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252776C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.644G>A	7.37:g.71252776C>T	ENSP00000332498:p.Arg215Gln					CALN1_ENST00000329008.5_Missense_Mutation_p.R215Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q|CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q	p.R257Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			7	1158	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	215					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.770G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513940	0.85389	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80994	-1.18;-1.44;-1.18;-1.18;-1.44;-1.18	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.29908	0.895	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.86865	0.2032	10	0.87932	D	0	-35.7804	17.2647	0.87083	0.0:1.0:0.0:0.0	.	215;215	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	Q	215;257;215;215;257;215	ENSP00000332498:R215Q;ENSP00000378690:R257Q;ENSP00000378691:R215Q;ENSP00000410704:R215Q;ENSP00000391882:R257Q;ENSP00000384354:R215Q	ENSP00000332498:R215Q	R	-	2	0	CALN1	70890712	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	7.724000	0.84798	2.303000	0.77524	0.462000	0.41574	CGG		0.582	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		15	11	0	0	0	1	0	15	11					T	71252776	C	T	71252776	3	4	394	1	0	0	0	0	1	0	0	0	2591	652	23	1	19	1	CALN1	7	71252776	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	64747052	71252776	87885887	21	35142											
UBN2	254048	broad.mit.edu	37	chr7	138968722	138968722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgtcacagatctccaCgcagggtttcaaatctccct	8	12	4	1	rs200304697		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:138968722C>T	ENST00000473989.3	+	15	3071	c.3071C>T	c.(3070-3072)aCg>aTg	p.T1024M	UBN2_ENST00000288561.8_Missense_Mutation_p.T941M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1024	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGATCTCCACGCAGGGTTTC	0.542																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2821-2823)aCg>aTg		ubinuclein 2							82	89	86					7																	138968722		2021	4176	6197	SO:0001583	missense	254048							g.chr7:138968722C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3071C>T	7.37:g.138968722C>T	ENSP00000418648:p.Thr1024Met					UBN2_ENST00000473989.2_Missense_Mutation_p.T1024M	p.T941M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3071	+			1024			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2822C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902698	0.33628	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36878	1.23;1.28	5.31	4.43	0.53597	.	0.298701	0.33127	N	0.005246	T	0.22360	0.0539	N	0.22421	0.69	0.28620	N	0.908233	P	0.36282	0.546	B	0.19666	0.026	T	0.14090	-1.0485	10	0.56958	D	0.05	-0.898	14.7457	0.69488	0.0:0.9293:0.0:0.0707	.	1024	Q6ZU65	UBN2_HUMAN	M	1024;941	ENSP00000418648:T1024M;ENSP00000288561:T941M	ENSP00000288561:T941M	T	+	2	0	UBN2	138619262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.260000	0.65490	1.564000	0.49628	0.557000	0.71058	ACG		0.542	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		26	26	0	0	0	1	0	26	26					T	138968722	C	T	138968722	3	4	394	1	0	0	0	0	1	0	0	0	16890	536	19	1	3129	1	UBN2	7	138968722	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	67715946	138968722	20169941	22	35143											
BLK	640	broad.mit.edu	37	chr8	11400821	11400821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccccctgaaggtcagcGcccaagacaaggacgccccg	13	16	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:11400821G>A	ENST00000259089.4	+	2	680	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	30					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GAAGGTCAGCGCCCAAGACAA	0.562																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(88-90)Gcc>Acc		B lymphoid tyrosine kinase							57	61	59					8																	11400821		2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11400821G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.88G>A	8.37:g.11400821G>A	ENSP00000259089:p.Ala30Thr					BLK_ENST00000529894.1_Intron	p.A30T	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	2	680	+			30					Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.88G>A	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	7.377	0.628093	0.14257	.	.	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.74421	-0.84	5.54	-11.1	0.00147	.	1.404080	0.05169	N	0.499209	T	0.41949	0.1181	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18871	-1.0323	10	0.13108	T	0.6	.	3.5611	0.07882	0.1466:0.2594:0.4113:0.1827	.	30	P51451	BLK_HUMAN	T	30	ENSP00000259089:A30T	ENSP00000259089:A30T	A	+	1	0	BLK	11438230	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.406000	0.01044	-2.686000	0.00406	-0.266000	0.10368	GCC		0.562	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			21	25	0	0	0	1	0	21	25					A	11400821	G	A	11400821	3	1	394	1	0	0	0	0	1	0	0	0	1444	1087	38	1	90	1	BLK	8	11400821	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		11400821	134963201	23	35144											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	95						7	95	---	---	---	---	-	30945379	AAG	-	30945377	7	5	394	1	0	1	0	1	0	0	0	0	17399	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-QH-A6X8-01A-12D-A32B-08	19544556	30945377	115418645	24	35145											
NBN	4683	broad.mit.edu	37	chr8	90967619	90967619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttagttggtgaaagcTgatagtttgggattctcatc	11	5	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:90967619T>C	ENST00000265433.3	-	10	1443	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	430					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)			TGGTGAAAGCTGATAGTTTGG	0.393								Homologous recombination																														ENST00000265433.3																			0				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						c.(1288-1290)cAg>cGg	Homologous recombination	nibrin							144	143	143					8																	90967619		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90967619T>C	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.1289A>G	8.37:g.90967619T>C	ENSP00000265433:p.Gln430Arg					NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	p.Q430R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		10	1443	-			430					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1289A>G	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389499	0.25118	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387	T;T	0.59906	1.99;0.23	5.45	4.29	0.51040	.	1.007420	0.07954	N	0.981367	T	0.50497	0.1619	L	0.60455	1.87	0.24696	N	0.993283	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.44711	-0.9310	10	0.09084	T	0.74	1.0E-4	8.0882	0.30784	0.0:0.0921:0.0:0.9079	.	430;430	A6H8Y5;O60934	.;NBN_HUMAN	R	430;348;430	ENSP00000265433:Q430R;ENSP00000386924:Q348R	ENSP00000265433:Q430R	Q	-	2	0	NBN	91036795	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	2.328000	0.43867	0.902000	0.36520	0.528000	0.53228	CAG		0.393	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		34	94	0	0	0	1	0	34	94					C	90967619	T	C	90967619	3	2	394	1	0	0	0	0	1	0	0	0	10191	1580	55	3	1003	3	NBN	8	90967619	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	60022242	90967619	55396403	25	35146											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		10	168						10	168	---	---	---	---	-	81070789	CTC	-	81070787	7	5	394	1	0	1	0	1	0	0	0	0	17693	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-QH-A6X8-01A-12D-A32B-08		81070787	54463960	26	35147											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156657	17156657	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaaagatttaaacacataCccctagttgaactcctgcta	4	10	0	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:17156657C>T	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						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						TAAACACATACCCCTAGTTGA	0.343																																						ENST00000265970.7																			0				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						c.e9+1		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						137	143	141					11																	17156657		2200	4293	6493	SO:0001630	splice_region_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17156657C>T	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.1897+1G>A	11.37:g.17156657C>T						PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron		NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			9	1897	-								B0LPH2|B4E2G4|Q14CQ9	Splice_Site	SNP	ENST00000265970.7	37		CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511130	0.27036	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	.	.	.	5.54	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8092	0.46535	0.0:0.9105:0.0:0.0895	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3C2A	17113233	1.000000	0.71417	0.983000	0.44433	0.261000	0.26267	3.633000	0.54295	2.615000	0.88500	0.655000	0.94253	.		0.343	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	Intron	114	34	0	0	0	1	0	114	34					T	17156657	C	T	17156657	5	4	394	1	0	0	0	0	0	0	1	0	11909	521	18	2	3258	2	PIK3C2A	11	17156657	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		17156657	117849859	27	35148											
CCND1	595	broad.mit.edu	37	chr11	69465895	69465895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctctcaggactgcctcCgggcctgccaggagcagatc	11	16	2	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:69465895C>T	ENST00000227507.2	+	5	960	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	245					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-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)		Arsenic trioxide(DB01169)	GGACTGCCTCCGGGCCTGCCA	0.667			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"L, E"	"IGH@, FSTL3"		"CLL, B-ALL, breast"		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(733-735)Cgg>Tgg		cyclin D1	Arsenic trioxide(DB01169)						25	23	24					11																	69465895		2197	4293	6490	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69465895C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.733C>T	11.37:g.69465895C>T	ENSP00000227507:p.Arg245Trp	Multiple Myeloma(6;0.086)					p.R245W	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-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)		5	960	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		245					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.733C>T	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192079	0.94923	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.24908	1.83	5.15	5.15	0.70609	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.57653	-0.7774	10	0.87932	D	0	.	18.6432	0.91402	0.0:1.0:0.0:0.0	.	245	P24385	CCND1_HUMAN	W	245;111	ENSP00000227507:R245W	ENSP00000227507:R245W	R	+	1	2	CCND1	69175076	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.160000	0.58164	2.403000	0.81681	0.561000	0.74099	CGG		0.667	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		11	17	0	0	0	1	0	11	17					T	69465895	C	T	69465895	3	4	394	1	0	0	0	0	1	0	0	0	2916	643	23	1	751	1	CCND1	11	69465895	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	52309238	69465895	65540621	28	35149											
NCAPD3	23310	broad.mit.edu	37	chr11	134054559	134054559	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggtgtctctgcagaTgctctacaaagcctctgcaa	9	12	4	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:134054559T>C	ENST00000534548.2	-	19	2488	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	808					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)		TCTCTGCAGATGCTCTACAAA	0.463																																						ENST00000534548.2																			0				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						c.(2422-2424)gcA>gcG		non-SMC condensin II complex, subunit D3							78	73	75					11																	134054559		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054559T>C	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.2424A>G	11.37:g.134054559T>C						RP11-700F16.3_ENST00000531710.1_RNA	p.A808A	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		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)	19	2488	-	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)	808					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2424A>G	CCDS31723.1																																																																																				0.463	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		24	29	0	0	0	1	0	24	29					C	134054559	T	C	134054559	2	2	394	1	0	0	0	0	0	0	0	1	10206	1451	51	3		3	NCAPD3	11	134054559	Silent	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	64588664	134054559	951957	29	35150											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000399433.2_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3	1		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	5	11						5	11	---	---	---	---	G	7080211	-	G	7080210	8	5	394	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-QH-A6X8-01A-12D-A32B-08		7080210	126771685	30	35151											
KRT73	319101	broad.mit.edu	37	chr12	53012113	53012113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatagcctcctgcccaccCactgccactggccacattga	6	19	0	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53012113C>T	ENST00000305748.3	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	66	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCCACCCACTGCCACTG	0.642																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(196-198)Ggg>Agg		keratin 73							72	85	80					12																	53012113		2203	4299	6502	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53012113C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.196G>A	12.37:g.53012113C>T	ENSP00000307014:p.Gly66Arg						p.G66R	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	230	-			66			Gly-rich.|Head.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.196G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654858	0.67472	.	.	ENSG00000186049	ENST00000305748	D	0.97959	-4.63	4.64	4.64	0.57946	.	0.000000	0.53938	D	0.000053	D	0.97583	0.9208	L	0.54323	1.7	0.39497	D	0.968136	P	0.45011	0.848	P	0.53450	0.726	D	0.97667	1.0164	10	0.35671	T	0.21	.	18.3929	0.90489	0.0:1.0:0.0:0.0	.	66	Q86Y46	K2C73_HUMAN	R	66	ENSP00000307014:G66R	ENSP00000307014:G66R	G	-	1	0	KRT73	51298380	0.007000	0.16637	0.992000	0.48379	0.716000	0.41182	2.211000	0.42825	2.512000	0.84698	0.655000	0.94253	GGG		0.642	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		62	113	0	0	0	1	0	62	113					T	53012113	C	T	53012113	3	4	394	1	0	0	0	0	1	0	0	0	8486	594	21	2	1462	2	KRT73	12	53012113	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	45931903	53012113	80839782	31	35152											
MYH7	4625	broad.mit.edu	37	chr14	23898247	23898247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagggtggcattgatgcGcgtcaccatccagttgaaca	11	12	1	2	rs148808089	byFrequency	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr14:23898247G>A	ENST00000355349.3	-	14	1486	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin motor.				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)		GCATTGATGCGCGTCACCATC	0.557													g|||	2	0.000399361	0.0	0.0	5008	,	,		21639	0.001		0.001	False		,,,				2504	0.0					ENST00000355349.3																			0				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	GRCh37	CM066924	MYH7	M	rs148808089	c.(1324-1326)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							138	119	125					14																	23898247		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898247G>A	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.1324C>T	14.37:g.23898247G>A	ENSP00000347507:p.Arg442Cys						p.R442C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1486	-	all_cancers(95;2.54e-05)		442			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1324C>T	CCDS9601.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	13.69	2.311053	0.40895	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.89050	-2.46	4.18	2.11	0.27256	Myosin head, motor domain (2);	.	.	.	.	D	0.96433	0.8836	H	0.98866	4.355	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	D	0.96574	0.9425	9	0.87932	D	0	.	12.063	0.53572	0.0:0.0:0.5246:0.4754	.	442	P12883	MYH7_HUMAN	C	442	ENSP00000347507:R442C	ENSP00000347507:R442C	R	-	1	0	MYH7	22968087	0.006000	0.16342	0.688000	0.30117	0.554000	0.35429	0.117000	0.15583	0.951000	0.37770	0.455000	0.32223	CGC		0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		27	61	0	0	0	1	0	27	61					A	23898247	G	A	23898247	3	1	394	1	0	0	0	0	1	0	0	0	10039	1087	38	1	4591	1	MYH7	14	23898247	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		23898247	83451293	32	35153											
ARNT2	9915	broad.mit.edu	37	chr15	80767431	80767431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagggcgagtgatttatgtGtctgactccgtcacccctgt	11	11	2	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr15:80767431G>T	ENST00000303329.4	+	5	654	c.489G>T	c.(487-489)gtG>gtT	p.V163V	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Silent_p.V152V|ARNT2_ENST00000527771.1_Silent_p.V152V	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	163	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)			TGATTTATGTGTCTGACTCCG	0.488																																						ENST00000533983.1																			0				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						c.(454-456)gtG>gtT		aryl-hydrocarbon receptor nuclear translocator 2							211	202	205					15																	80767431		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80767431G>T	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.489G>T	15.37:g.80767431G>T						ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Silent_p.V163V|ARNT2_ENST00000527771.1_Silent_p.V152V	p.V152V			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		6	795	+			163			PAS 1.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.456G>T	CCDS32307.1																																																																																				0.488	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	127	1	0	0.000602214	1	0.00062298	5	127					T	80767431	G	T	80767431	2	4	394	1	0	0	0	0	0	0	0	1	966	1364	48	4		4	ARNT2	15	80767431	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		80767431	21763961	33	35154											
ACSM5	54988	broad.mit.edu	37	chr16	20451165	20451165	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactccagcctactcctctcAtgacccagaggcactaacgc	6	17	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr16:20451165A>C	ENST00000331849.4	+	13	1727	c.1580A>C	c.(1579-1581)cAt>cCt	p.H527P	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	527					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						TACTCCTCTCATGACCCAGAG	0.473																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1579-1581)cAt>cCt		acyl-CoA synthetase medium-chain family member 5							115	106	109					16																	20451165		2203	4299	6502	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451165A>C		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.1580A>C	16.37:g.20451165A>C	ENSP00000327916:p.His527Pro						p.H527P	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			13	1727	+			527					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1580A>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336239	0.41398	.	.	ENSG00000183549	ENST00000331849	T	0.47528	0.84	5.01	1.4	0.22301	.	0.584402	0.16321	N	0.219575	T	0.31544	0.0800	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.35312	0.2	T	0.28996	-1.0026	10	0.62326	D	0.03	-0.0122	8.3889	0.32516	0.7472:0.0:0.2528:0.0	.	527	Q6NUN0	ACSM5_HUMAN	P	527	ENSP00000327916:H527P	ENSP00000327916:H527P	H	+	2	0	ACSM5	20358666	0.000000	0.05858	0.009000	0.14445	0.499000	0.33736	0.539000	0.23175	0.021000	0.15133	-0.290000	0.09829	CAT		0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		19	63	0	0	0	1	0	19	63					C	20451165	A	C	20451165	3	2	394	1	0	0	0	0	1	0	0	0	187	217	8	5	1626	5	ACSM5	16	20451165	Missense_Mutation	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08		20451165	69903588	34	35155											
NEURL4	84461	broad.mit.edu	37	chr17	7231124	7231124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagccccccttcaggcccGtggcactgcttggaaagtcc	11	16	1	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:7231124G>A	ENST00000399464.2	-	2	377	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	121	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGGCCCGTGGCACTGCT	0.602																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(361-363)aCg>aTg		neuralized E3 ubiquitin protein ligase 4							35	40	38					17																	7231124		2059	4195	6254	SO:0001583	missense	84461							g.chr17:7231124G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.362C>T	17.37:g.7231124G>A	ENSP00000382390:p.Thr121Met					NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	p.T121M	NM_032442.2	NP_115818.2					2	377	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.362C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941565	0.73557	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73363	-0.74;-0.74	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);NEUZ (2);	0.063724	0.64402	D	0.000011	D	0.83115	0.5184	L	0.56769	1.78	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.909	T	0.82764	-0.0296	10	0.46703	T	0.11	-13.4017	16.3114	0.82873	0.0:0.0:1.0:0.0	.	121;121	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	M	121	ENSP00000319826:T121M;ENSP00000382390:T121M	ENSP00000319826:T121M	T	-	2	0	NEURL4	7171848	1.000000	0.71417	0.894000	0.35097	0.970000	0.65996	8.352000	0.90075	2.644000	0.89710	0.650000	0.86243	ACG		0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		19	37	0	0	0	1	0	19	37					A	7231124	G	A	7231124	3	1	394	1	0	0	0	0	1	0	0	0	10347	1145	40	1	4438	1	NEURL4	17	7231124	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		7231124	73964086	35	35156											
MYH1	4619	broad.mit.edu	37	chr17	10397924	10397924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttctctcatgtttgcGtagacccttgacagcttcaa	6	12	3	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:10397924G>A	ENST00000226207.5	-	38	5627	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380). {ECO:0000305}.	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						TCATGTTTGCGTAGACCCTTG	0.393																																						ENST00000226207.5																			0				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						c.(5533-5535)Cgc>Tgc		myosin, heavy chain 1, skeletal muscle, adult							231	209	216					17																	10397924		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397924G>A		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.5533C>T	17.37:g.10397924G>A	ENSP00000226207:p.Arg1845Cys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R1845C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			38	5627	-			1845	R -> H (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5533C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932136	0.92389	.	.	ENSG00000109061	ENST00000226207	D	0.83335	-1.71	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.44097	U	0.000487	D	0.94892	0.8349	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96804	0.9591	10	0.87932	D	0	.	18.8437	0.92196	0.0:0.0:1.0:0.0	.	1845	P12882	MYH1_HUMAN	C	1845	ENSP00000226207:R1845C	ENSP00000226207:R1845C	R	-	1	0	MYH1	10338649	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.805000	0.62561	2.523000	0.85059	0.561000	0.74099	CGC		0.393	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		44	80	0	0	0	1	0	44	80					A	10397924	G	A	10397924	3	1	394	1	0	0	0	0	1	0	0	0	10029	1145	40	1	298	1	MYH1	17	10397924	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	3166800	10397924	70797286	36	35157											
MPRIP	23164	broad.mit.edu	37	chr17	17077304	17077304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagtgcctggagaatgCccatctggcccaggcgctgg	15	12	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:17077304C>T	ENST00000341712.4	+	18	2504	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000395811.5_Missense_Mutation_p.A835V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	835	Interaction with PPP1R12A.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGAGAATGCCCATCTGGCC	0.662																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(2503-2505)gCc>gTc		myosin phosphatase Rho interacting protein							59	56	57					17																	17077304		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17077304C>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.2504C>T	17.37:g.17077304C>T	ENSP00000342379:p.Ala835Val					MPRIP_ENST00000341712.4_Missense_Mutation_p.A835V|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V|RP11-45M22.3_ENST00000584203.1_RNA	p.A835V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			18	2593	+			835			Interaction with PPP1R12A.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2504C>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.778531|5.778531	0.96929|0.96929	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712;ENST00000429184|ENST00000414263	T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77731|0.77731	0.4174|0.4174	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.996;0.999;1.0;0.99;0.999|.	D;D;D;P;D|.	0.81914|.	0.977;0.995;0.993;0.885;0.986|.	T|T	0.75795|0.75795	-0.3192|-0.3192	10|5	0.36615|.	T|.	0.2|.	-26.0648|-26.0648	20.0263|20.0263	0.97523|0.97523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	834;797;1199;835;835|.	B9EGI2;Q6WCQ1-3;Q9Y6X7;Q6WCQ1-2;Q6WCQ1|.	.;.;.;.;MPRIP_HUMAN|.	V|S	797;835;835;835;31|901	ENSP00000400189:A797V;ENSP00000379156:A835V;ENSP00000379149:A835V;ENSP00000342379:A835V|.	ENSP00000342379:A835V|.	A|P	+|+	2|1	0|0	MPRIP|MPRIP	17018029|17018029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.037000|6.037000	0.70956|0.70956	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.662	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		3	43	0	0	0	1	0	3	43					T	17077304	C	T	17077304	3	4	394	1	0	0	0	0	1	0	0	0	9743	739	26	2	2574	2	MPRIP	17	17077304	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	6679380	17077304	64117906	37	35158											
KIF18B	146909	broad.mit.edu	37	chr17	43003541	43003541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttgctagggcacaggggActcaagggcagctctgcagg	17	10	2	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:43003541A>G	ENST00000593135.1	-	16	2563	c.2466T>C	c.(2464-2466)agT>agC	p.S822S	KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000339151.4_Silent_p.S825S|KIF18B_ENST00000587309.1_3'UTR	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	834					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCACAGGGGACTCAAGGGCA	0.642																																						ENST00000593135.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2464-2466)agT>agC		kinesin family member 18B							72	78	76					17																	43003541		2101	4226	6327	SO:0001819	synonymous_variant	146909							g.chr17:43003541A>G		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2466T>C	17.37:g.43003541A>G						KIF18B_ENST00000587309.1_3'UTR|KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000339151.4_Silent_p.S825S	p.S822S	NM_001265577.1	NP_001252506.1					16	2563	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.2466T>C	CCDS45709.2																																																																																				0.642	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		15	19	0	0	0	1	0	15	19					G	43003541	A	G	43003541	2	3	394	1	0	0	0	0	0	0	0	1	8281	272	10	3		3	KIF18B	17	43003541	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	25926237	43003541	38191669	38	35159											
BCAS3	54828	broad.mit.edu	37	chr17	59024689	59024689	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccatctgtatactctTcacaggggagaaactgaagc	9	11	3	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:59024689T>C	ENST00000390652.5	+	14	1228	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	BCAS3_ENST00000588874.1_Silent_p.L170L|BCAS3_ENST00000408905.3_Silent_p.L399L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000589222.1_Silent_p.L399L	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)			TGTATACTCTTCACAGGGGAG	0.408																																						ENST00000589222.1																			0				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						c.(1195-1197)ctT>ctC		breast carcinoma amplified sequence 3							180	166	170					17																	59024689		1898	4128	6026	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:59024689T>C	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.1197T>C	17.37:g.59024689T>C						BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000390652.5_Silent_p.L399L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000408905.3_Silent_p.L399L|BCAS3_ENST00000588874.1_Silent_p.L170L	p.L399L			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		14	1265	+			399						Silent	SNP	ENST00000390652.5	37	c.1197T>C	CCDS45749.1																																																																																				0.408	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		67	103	0	0	0	1	0	67	103					C	59024689	T	C	59024689	2	2	394	1	0	0	0	0	0	0	0	1	1352	1770	62	3		3	BCAS3	17	59024689	Silent	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	16021148	59024689	22170521	39	35160											
MUC16	94025	broad.mit.edu	37	chr19	9058490	9058490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagattctgtcatgatGggagaggtagacagcctggt	14	7	3	4			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:9058490G>A	ENST00000397910.4	-	3	29159	c.28956C>T	c.(28954-28956)ccC>ccT	p.P9652P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9654	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)				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						CTGTCATGATGGGAGAGGTAG	0.488																																						ENST00000397910.4																			0				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						c.(28954-28956)ccC>ccT		mucin 16, cell surface associated							169	148	155					19																	9058490		1999	4165	6164	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058490G>A	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.28956C>T	19.37:g.9058490G>A							p.P9652P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29159	-			9654			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28956C>T	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		25	41	0	0	0	1	0	25	41					A	9058490	G	A	9058490	2	1	394	1	0	0	0	0	0	0	0	1	9973	1335	47	2		2	MUC16	19	9058490	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		9058490	50070493	40	35161											
CIC	23152	broad.mit.edu	37	chr19	42791722	42791722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaccacatccggcggcCcatgaatgccttcatgatct	10	13	2	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:42791722C>T	ENST00000575354.2	+	5	648	c.608C>T	c.(607-609)cCc>cTc	p.P203L	CIC_ENST00000160740.3_Missense_Mutation_p.P203L|CIC_ENST00000572681.2_Missense_Mutation_p.P1112L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203					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)				ATCCGGCGGCCCATGAATGCC	0.627			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3334-3336)cCc>cTc		capicua transcriptional repressor							65	68	67					19																	42791722		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791722C>T	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.608C>T	19.37:g.42791722C>T	ENSP00000458663:p.Pro203Leu					CIC_ENST00000160740.3_Missense_Mutation_p.P203L|CIC_ENST00000575354.2_Missense_Mutation_p.P203L	p.P1112L			Q96RK0	CIC_HUMAN			6	3403	+		Prostate(69;0.00682)	203			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3335C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285758	0.59867	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88058	0.6335	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92261	0.5817	8	0.87932	D	0	-12.2603	14.5138	0.67807	0.0:1.0:0.0:0.0	.	203	Q96RK0	CIC_HUMAN	L	203	.	ENSP00000160740:P203L	P	+	2	0	CIC	47483562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.351000	0.79395	2.284000	0.76573	0.555000	0.69702	CCC		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	17	0	0	0	1	0	21	17					T	42791722	C	T	42791722	3	4	394	1	0	0	0	0	1	0	0	0	3424	623	22	2	626	2	CIC	19	42791722	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	33733232	42791722	16337261	41	35162											
GLRA2	2742	broad.mit.edu	37	chrX	14627180	14627180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatattatttgatccagatGtacatcccaagcctgcttat	7	9	0	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:14627180G>A	ENST00000218075.4	+	7	1313	c.783G>A	c.(781-783)atG>atA	p.M261I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	261					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)			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)	TGATCCAGATGTACATCCCAA	0.443																																						ENST00000218075.4																			0				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						c.(781-783)atG>atA		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						117	112	113					X																	14627180		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14627180G>A		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.783G>A	X.37:g.14627180G>A	ENSP00000218075:p.Met261Ile					GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	p.M261I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			7	1313	+	Hepatocellular(33;0.128)		261					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.783G>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936601	0.52972	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.83837	-1.77;-1.77;-1.77	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	N	0.04090	-0.28	0.80722	D	1	P;P;B	0.46277	0.875;0.705;0.029	P;P;B	0.53760	0.734;0.708;0.039	T	0.78952	-0.2001	10	0.27082	T	0.32	.	18.7674	0.91879	0.0:0.0:1.0:0.0	.	245;261;261	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	I	172;261;261	ENSP00000387756:M172I;ENSP00000218075:M261I;ENSP00000347123:M261I	ENSP00000218075:M261I	M	+	3	0	GLRA2	14537101	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.771000	0.98977	2.378000	0.81104	0.600000	0.82982	ATG		0.443	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			52	82	0	0	0	1	0	52	82					A	14627180	G	A	14627180	3	1	394	1	0	0	0	0	1	0	0	0	6455	1377	48	2	881	2	GLRA2	23	14627180	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		14627180	140643380	42	35163											
PDK3	5165	broad.mit.edu	37	chrX	24552177	24552177	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggatgcttcaaaatacaaAgcaaaacagtaatataccac	6	8	1	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:24552177A>G	ENST00000379162.4	+	11	1444	c.1209A>G	c.(1207-1209)aaA>aaG	p.K403K	PDK3_ENST00000441463.2_Silent_p.K403K	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	403					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|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)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAAATACAAAGCAAAACAGT	0.428																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1207-1209)aaA>aaG		pyruvate dehydrogenase kinase, isozyme 3							72	61	65					X																	24552177		2203	4300	6503	SO:0001819	synonymous_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24552177A>G	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"pyruvate dehydrogenase kinase, isoenzyme 3"			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.1209A>G	X.37:g.24552177A>G						PDK3_ENST00000379162.4_Silent_p.K403K	p.K403K	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			11	1209	+			403					B4DXG6	Silent	SNP	ENST00000379162.4	37	c.1209A>G	CCDS14212.1																																																																																				0.428	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	27	0	0	0	1	0	8	27					G	24552177	A	G	24552177	2	3	394	1	0	0	0	0	0	0	0	1	11677	69	3	3		3	PDK3	23	24552177	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	9924997	24552177	130718383	43	35164											
MAGEB6	158809	broad.mit.edu	37	chrX	26212016	26212016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagaaacgccaagagaCcaatggtcagccacagggtc	12	11	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:26212016C>T	ENST00000379034.1	+	2	202	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	18										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCCAAGAGACCAATGGTCAG	0.572																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(52-54)aCc>aTc		melanoma antigen family B, 6							82	68	73					X																	26212016		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212016C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.53C>T	X.37:g.26212016C>T	ENSP00000368320:p.Thr18Ile						p.T18I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	202	+			18					Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.53C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650373	0.29336	.	.	ENSG00000176746	ENST00000379034	T	0.04917	3.53	2.56	-0.36	0.12568	Melanoma associated antigen, MAGE, N-terminal (1);	0.798663	0.10755	U	0.637818	T	0.06280	0.0162	L	0.50333	1.59	0.09310	N	1	P	0.43885	0.82	B	0.41088	0.347	T	0.28170	-1.0052	10	0.56958	D	0.05	.	2.2145	0.03956	0.2476:0.4346:0.0:0.3178	.	18	Q8N7X4	MAGB6_HUMAN	I	18	ENSP00000368320:T18I	ENSP00000368320:T18I	T	+	2	0	MAGEB6	26121937	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.793000	0.01755	-0.224000	0.09928	-0.245000	0.11935	ACC		0.572	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		29	38	0	0	0	1	0	29	38					T	26212016	C	T	26212016	3	4	394	1	0	0	0	0	1	0	0	0	9179	507	18	2	55	2	MAGEB6	23	26212016	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	1659839	26212016	129058544	44	35165											
ATRX	546	broad.mit.edu	37	chrX	76855029	76855029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctactatcttttttccccTttttcccttttttcttcttt	1	12	3	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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.K1936T(2)|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						TTTTTTCCCCTTTTTCCCTTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Missense(2)|Unknown(1)	p.K1936T(2)|p.?(1)	lung(2)|bone(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						c.(5806-5808)aAg>aGg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						329	308	315					X																	76855029		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855029T>C	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.5807A>G	X.37:g.76855029T>C	ENSP00000362441:p.Lys1936Arg					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	p.K1936R	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6021	-			1936			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5807A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468878	0.26335	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92647	-3.07;-3.08	5.64	0.648	0.17801	.	0.202398	0.40469	N	0.001084	T	0.82217	0.4989	N	0.16903	0.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.67492	-0.5657	10	0.38643	T	0.18	-2.2976	8.217	0.31519	0.0:0.3103:0.0:0.6897	.	1898;1936	P46100-4;P46100	.;ATRX_HUMAN	R	1936;1898	ENSP00000362441:K1936R;ENSP00000378967:K1898R	ENSP00000362441:K1936R	K	-	2	0	ATRX	76741685	0.758000	0.28405	0.831000	0.32960	0.973000	0.67179	1.172000	0.31908	-0.241000	0.09681	-0.330000	0.08379	AAG		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	351	0	0	0	1	0	4	351					C	76855029	T	C	76855029	3	2	394	1	0	0	0	0	1	0	0	0	1208	1609	56	3	1715	3	ATRX	23	76855029	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	50643013	76855029	78415531	45	35166											
DACH2	117154	broad.mit.edu	37	chrX	86069792	86069792	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaagtggagcaggcaCttaagcaagccaccactagt	13	10	0	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:86069792C>G	ENST00000373125.4	+	10	1639	c.1639C>G	c.(1639-1641)Ctt>Gtt	p.L547V	DACH2_ENST00000373131.1_Missense_Mutation_p.L534V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V|DACH2_ENST00000510272.1_Missense_Mutation_p.L328V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	547					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAGCAGGCACTTAAGCAAGC	0.428																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1600-1602)Ctt>Gtt		dachshund homolog 2 (Drosophila)							59	50	53					X																	86069792		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86069792C>G	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1639C>G	X.37:g.86069792C>G	ENSP00000362217:p.Leu547Val					DACH2_ENST00000510272.1_Missense_Mutation_p.L328V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V|DACH2_ENST00000373125.4_Missense_Mutation_p.L547V|DACH2_ENST00000477378.2_Intron	p.L534V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			9	1763	+			547					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1600C>G	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668122	0.47677	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.89875	-2.53;-2.58	4.76	2.99	0.34606	.	0.101724	0.42682	D	0.000677	D	0.86272	0.5893	L	0.50333	1.59	0.45962	D	0.998782	P;B;B;P	0.37663	0.604;0.252;0.421;0.598	B;B;B;B	0.42282	0.382;0.273;0.183;0.25	T	0.81161	-0.1059	10	0.39692	T	0.17	.	10.3375	0.43858	0.0:0.834:0.0:0.166	.	413;547;534;547	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	547;534;547;380;328;380;212	ENSP00000362223:L534V;ENSP00000362217:L547V	ENSP00000345134:L547V	L	+	1	0	DACH2	85956448	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	3.712000	0.54875	0.290000	0.22444	0.415000	0.27848	CTT		0.428	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		7	23	0	0	0	1	0	7	23					G	86069792	C	G	86069792	3	3	394	1	0	0	0	0	1	0	0	0	4221	565	20	4	1677	4	DACH2	23	86069792	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	9214763	86069792	69200768	46	35167											
CXorf57	55086	broad.mit.edu	37	chrX	105905388	105905388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatcctgaaagtattccaCggaaatttatgtttgaacac	6	7	0	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:105905388C>T	ENST00000372548.4	+	12	2231	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTATTCCACGGAAATTTAT	0.408																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2122-2124)Cgg>Tgg		chromosome X open reading frame 57							90	82	85					X																	105905388		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105905388C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2122C>T	X.37:g.105905388C>T	ENSP00000361628:p.Arg708Trp					CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	p.R708W	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			12	2231	+			708					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.2122C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650720	0.47362	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.57752	0.4;0.46;0.38	4.84	2.02	0.26589	.	0.237484	0.42682	N	0.000671	T	0.42200	0.1192	M	0.64997	1.995	0.23899	N	0.996526	P;P	0.40534	0.72;0.72	B;B	0.34873	0.191;0.191	T	0.40194	-0.9576	10	0.72032	D	0.01	-6.8403	5.6325	0.17518	0.1571:0.6629:0.0:0.18	.	708;708	A8K6R5;Q6NSI4	.;CX057_HUMAN	W	611;708;419	ENSP00000361623:R611W;ENSP00000361628:R708W;ENSP00000405866:R419W	ENSP00000361623:R611W	R	+	1	2	CXorf57	105792044	0.998000	0.40836	0.992000	0.48379	0.425000	0.31504	0.383000	0.20651	0.153000	0.19213	0.538000	0.68166	CGG		0.408	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		26	42	0	0	0	1	0	26	42					T	105905388	C	T	105905388	3	4	394	1	0	0	0	0	1	0	0	0	4113	527	19	1	2168	1	CXorf57	23	105905388	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	19835596	105905388	49365172	47	35168											
LONRF3	79836	broad.mit.edu	37	chrX	118151572	118151572	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaagccgagctcagctcccCttcctagcaatgaggtcctt	9	14	1	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:118151572C>G	ENST00000371628.3	+	11	2230	c.2199C>G	c.(2197-2199)ccC>ccG	p.P733P	LONRF3_ENST00000422289.2_Silent_p.P477P|LONRF3_ENST00000304778.7_Silent_p.P692P|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	733	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTCAGCTCCCCTTCCTAGCAA	0.512																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2074-2076)ccC>ccG		LON peptidase N-terminal domain and ring finger 3							141	114	123					X																	118151572		2203	4300	6503	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118151572C>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2199C>G	X.37:g.118151572C>G						LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.P733P|LONRF3_ENST00000422289.2_Silent_p.P477P|LONRF3_ENST00000304778.7_Silent_p.P692P	p.P692P			Q496Y0	LONF3_HUMAN			10	2239	+			733			Lon.		Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	c.2076C>G	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727983	0.15507	.	.	ENSG00000175556	ENST00000439603	.	.	.	5.56	-10.3	0.00346	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41448	-0.9508	4	.	.	.	-37.3641	2.7025	0.05153	0.2759:0.3879:0.0873:0.2489	.	.	.	.	V	499	.	.	L	+	1	0	LONRF3	118035600	0.000000	0.05858	0.630000	0.29268	0.973000	0.67179	-3.832000	0.00355	-1.803000	0.01242	-0.236000	0.12185	CTT		0.512	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		39	49	0	0	0	1	0	39	49					G	118151572	C	G	118151572	2	3	394	1	0	0	0	0	0	0	0	1	8896	668	24	4		4	LONRF3	23	118151572	Silent	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	12246184	118151572	37118988	48	35169											
IGSF1	3547	broad.mit.edu	37	chrX	130412696	130412696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttggtctctgcccacaGctcaggcttaggggttggca	13	10	2	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:130412696G>A	ENST00000361420.3	-	12	1859	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	IGSF1_ENST00000370910.1_Silent_p.L585L|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Silent_p.L599L|IGSF1_ENST00000370904.1_Silent_p.L585L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	594	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						TCTGCCCACAGCTCAGGCTTA	0.537																																						ENST00000370904.1																			0				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						c.(1753-1755)Ctg>Ttg		immunoglobulin superfamily, member 1							64	64	64					X																	130412696		2203	4295	6498	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412696G>A	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.1780C>T	X.37:g.130412696G>A						IGSF1_ENST00000361420.3_Silent_p.L594L|IGSF1_ENST00000370903.3_Silent_p.L599L|IGSF1_ENST00000370910.1_Silent_p.L585L	p.L585L			Q8N6C5	IGSF1_HUMAN			18	2663	-			594					B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1753C>T	CCDS14629.1																																																																																				0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			41	56	0	0	0	1	0	41	56					A	130412696	G	A	130412696	2	1	394	1	0	0	0	0	0	0	0	1	7596	962	34	2		2	IGSF1	23	130412696	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	12261124	130412696	24857864	49	35170											
MAGEA8	4107	broad.mit.edu	37	chrX	149013734	149013734	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatctgggaagcattgagtGtgatggggctgtatgatggg	17	4	1	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:149013734G>C	ENST00000542674.1	+	3	1209	c.688G>C	c.(688-690)Gtg>Ctg	p.V230L	MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000535454.1_Missense_Mutation_p.V230L	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	230	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATTGAGTGTGATGGGGCT	0.577																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(688-690)Gtg>Ctg		melanoma antigen family A, 8							99	88	92					X																	149013734		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013734G>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.688G>C	X.37:g.149013734G>C	ENSP00000443776:p.Val230Leu					MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000542674.1_Missense_Mutation_p.V230L	p.V230L	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1237	+	Acute lymphoblastic leukemia(192;6.56e-05)		230			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.688G>C	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	8.686	0.906204	0.17760	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04809	3.55;3.55;3.55	1.0	-1.96	0.07525	.	1.075610	0.07138	N	0.846752	T	0.05273	0.0140	L	0.60455	1.87	0.09310	N	1	B	0.25563	0.129	B	0.25987	0.065	T	0.43734	-0.9373	10	0.34782	T	0.22	.	1.5943	0.02660	0.2851:0.0:0.3841:0.3308	.	230	P43361	MAGA8_HUMAN	L	230	ENSP00000438293:V230L;ENSP00000443776:V230L;ENSP00000286482:V230L	ENSP00000286482:V230L	V	+	1	0	MAGEA8	148774392	0.001000	0.12720	0.000000	0.03702	0.227000	0.25037	0.083000	0.14871	-0.821000	0.04312	0.190000	0.17370	GTG		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		4	93	0	0	0	1	0	4	93					C	149013734	G	C	149013734	3	2	394	1	0	0	0	0	1	0	0	0	9171	1377	48	4	690	4	MAGEA8	23	149013734	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	18601038	149013734	6256826	50	35171											
C1orf38	9473	broad.mit.edu	37	chr1	28206168	28206168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacaggctacttcaccccCctcaacaccccacagagcta	4	21	2	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:28206168C>T	ENST00000373921.3	+	3	253	c.249C>T	c.(247-249)ccC>ccT	p.P83P	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Silent_p.P83P|THEMIS2_ENST00000328928.7_Silent_p.P83P	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	83	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACTTCACCCCCCTCAACACCC	0.617																																						ENST00000373921.3																			0											c.(247-249)ccC>ccT		thymocyte selection associated family member 2							68	72	71					1																	28206168		2203	4300	6503	SO:0001819	synonymous_variant	9473							g.chr1:28206168C>T	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.249C>T	1.37:g.28206168C>T						THEMIS2_ENST00000373925.1_Silent_p.P83P|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.P83P	p.P83P	NM_001105556.1	NP_001099026.1					3	253	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.249C>T	CCDS41290.1																																																																																				0.617	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		4	22	0	0	0	1	0	4	22					T	28206168	C	T	28206168	2	4	395	1	0	0	0	0	0	0	0	1	2039	610	22	2		2	C1orf38	1	28206168	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		28206168	221044453	1	35172											
SARS	6301	broad.mit.edu	37	chr1	109773620	109773620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagggggccgtggtggctGggagtcgagggtacttcttg	19	6	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:109773620G>A	ENST00000234677.2	+	5	643	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SARS_ENST00000369923.4_Missense_Mutation_p.G190R	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	190					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CGTGGTGGCTGGGAGTCGAGG	0.418																																						ENST00000369923.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(568-570)Ggg>Agg		seryl-tRNA synthetase	L-Serine(DB00133)						101	104	103					1																	109773620		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109773620G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.568G>A	1.37:g.109773620G>A	ENSP00000234677:p.Gly190Arg					SARS_ENST00000234677.2_Missense_Mutation_p.G190R	p.G190R			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	5	579	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	190					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.568G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	g	34	5.307899	0.95629	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	D;D	0.82433	-1.61;-1.61	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	H	0.96889	3.9	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	0.95798	0.8830	10	0.87932	D	0	-24.0726	18.7594	0.91845	0.0:0.0:1.0:0.0	.	190;190;190	Q0VGA5;Q5T5C7;P49591	.;.;SYSC_HUMAN	R	190	ENSP00000234677:G190R;ENSP00000358939:G190R	ENSP00000234677:G190R	G	+	1	0	SARS	109575143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.522000	0.85027	0.650000	0.86243	GGG		0.418	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		36	33	0	0	0	1	0	36	33					A	109773620	G	A	109773620	3	1	395	1	0	0	0	0	1	0	0	0	13844	1348	47	2	586	2	SARS	1	109773620	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	81567452	109773620	139477001	2	35173											
HMCN1	83872	broad.mit.edu	37	chr1	186014932	186014932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctactcttacttggttaaaAgacggccaccccttgctgaa	7	13	1	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:186014932A>G	ENST00000271588.4	+	41	6646	c.6417A>G	c.(6415-6417)aaA>aaG	p.K2139K	HMCN1_ENST00000367492.2_Silent_p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2139	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						CTTGGTTAAAAGACGGCCACC	0.393																																						ENST00000271588.4																			0				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						c.(6415-6417)aaA>aaG		hemicentin 1							132	122	126					1																	186014932		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014932A>G	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.6417A>G	1.37:g.186014932A>G						HMCN1_ENST00000367492.2_Silent_p.K2139K	p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			41	6646	+			2139			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6417A>G	CCDS30956.1																																																																																				0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	52	0	0	0	1	0	4	52					G	186014932	A	G	186014932	2	3	395	1	0	0	0	0	0	0	0	1	7220	69	3	3		3	HMCN1	1	186014932	Silent	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	76241312	186014932	63235689	3	35174											
OR2L3	391192	broad.mit.edu	37	chr1	248224013	248224013	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaatcaaacatcaactgaTttcatcttattaggattctt	3	8	5	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:248224013T>C	ENST00000359959.3	+	1	30	c.30T>C	c.(28-30)gaT>gaC	p.D10D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	10						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(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CATCAACTGATTTCATCTTAT	0.388																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(28-30)gaT>gaC		olfactory receptor, family 2, subfamily L, member 3							207	204	205					1																	248224013		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224013T>C	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.30T>C	1.37:g.248224013T>C						OR2L13_ENST00000366478.2_Intron	p.D10D	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	30	+	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)		10					B9EH44	Silent	SNP	ENST00000359959.3	37	c.30T>C	CCDS31104.1																																																																																				0.388	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		16	204	0	0	0	1	0	16	204					C	248224013	T	C	248224013	2	2	395	1	0	0	0	0	0	0	0	1	11008	1490	52	3		3	OR2L3	1	248224013	Silent	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	62209081	248224013	1026608	4	35175											
IL1RL1	9173	broad.mit.edu	37	chr2	102955415	102955415	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaagtattcccactcaGgaaagaaatcgtgtgtttgc	8	8	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:102955415G>C	ENST00000233954.1	+	3	451	c.180G>C	c.(178-180)caG>caC	p.Q60H	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000311734.2_Missense_Mutation_p.Q60H|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	60	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCACTCAGGAAAGAAATC	0.393																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(178-180)caG>caC		interleukin 1 receptor-like 1							197	200	199					2																	102955415		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102955415G>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.180G>C	2.37:g.102955415G>C	ENSP00000233954:p.Gln60His					IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H|IL1RL1_ENST00000404917.2_Intron	p.Q60H			Q01638	ILRL1_HUMAN			3	519	+			60			Ig-like C2-type 1.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.180G>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156745	0.38119	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	1.82	0.25136	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.821045	0.11319	N	0.576208	T	0.80444	0.4624	L	0.60455	1.87	0.09310	N	0.999998	D;D	0.59357	0.985;0.973	P;P	0.60682	0.807;0.878	T	0.66106	-0.6006	10	0.48119	T	0.1	.	3.8211	0.08836	0.1851:0.0:0.4532:0.3617	.	60;60	Q01638-2;Q01638	.;ILRL1_HUMAN	H	60	ENSP00000233954:Q60H;ENSP00000377052:Q60H;ENSP00000310371:Q60H;ENSP00000386618:Q60H	ENSP00000233954:Q60H	Q	+	3	2	IL1RL1	102321847	0.000000	0.05858	0.083000	0.20561	0.272000	0.26649	-0.044000	0.12023	0.845000	0.35118	-0.182000	0.12963	CAG		0.393	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		50	118	0	0	0	1	0	50	118					C	102955415	G	C	102955415	3	2	395	1	0	0	0	0	1	0	0	0	7663	991	35	4	186	4	IL1RL1	2	102955415	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		102955415	140243958	5	35176											
POTEE	445582	broad.mit.edu	37	chr2	132021463	132021463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgaggcccccctgaaccCcaaggccaaccgcgagaaga	11	17	0	3	rs200002532	byFrequency	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:132021463C>T	ENST00000356920.5	+	15	2529	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	812	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCCTGAACCCCAAGGCCAAC	0.602																																						ENST00000356920.5																			0											c.(2434-2436)cCc>cTc		POTE ankyrin domain family, member E							70	73	72					2																	132021463		2170	4255	6425	SO:0001583	missense	445582						ATP binding	g.chr2:132021463C>T	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.2435C>T	2.37:g.132021463C>T	ENSP00000439189:p.Pro812Leu					POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	p.P812L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2529	+			812			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2435C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904828	0.52333	.	.	ENSG00000188219	ENST00000356920	D	0.97575	-4.44	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98454	0.9485	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96843	0.9619	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	812	Q6S8J3	POTEE_HUMAN	L	812	ENSP00000439189:P812L	ENSP00000439189:P812L	P	+	2	0	AC131180.1	131737933	1.000000	0.71417	0.245000	0.24217	0.248000	0.25809	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	CCC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		24	97	0	0	0	1	0	24	97					T	132021463	C	T	132021463	3	4	395	1	0	0	0	0	1	0	0	0	12264	623	22	2	2493	2	POTEE	2	132021463	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	29066048	132021463	111177910	6	35177											
TTN	7273	broad.mit.edu	37	chr2	179590358	179590358	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagtgaggctgttcagtttgGagacaaatcttggtggttct	13	6	3	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:179590358G>C	ENST00000591111.1	-	69	19846	c.19622C>G	c.(19621-19623)tCc>tGc	p.S6541C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6858C|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12143	Ig-like 47.				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)			GTTCAGTTTGGAGACAAATCT	0.433																																						ENST00000589042.1																			0				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						c.(20572-20574)tCc>tGc		titin							77	73	74					2																	179590358		1869	4099	5968	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590358G>C	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.19622C>G	2.37:g.179590358G>C	ENSP00000465570:p.Ser6541Cys					TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6541C	p.S6858C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		71	20797	-			6541			Ig-like 50.		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	ENST00000591111.1	37	c.20573C>G		.	.	.	.	.	.	.	.	.	.	G	12.58	1.979444	0.34942	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67239	0.2872	L	0.43152	1.355	0.80722	D	1	P	0.45126	0.851	P	0.47626	0.552	T	0.69676	-0.5081	9	0.87932	D	0	.	15.3004	0.73945	0.0:0.0:0.8601:0.1399	.	6541	Q8WZ42	TITIN_HUMAN	C	5614	ENSP00000343764:S5614C	ENSP00000343764:S5614C	S	-	2	0	TTN	179298603	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.608000	0.61141	2.937000	0.99478	0.650000	0.86243	TCC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	35	0	0	0	1	0	18	35					C	179590358	G	C	179590358	3	2	395	1	0	0	0	0	1	0	0	0	16732	1174	41	4	84124	4	TTN	2	179590358	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	47568895	179590358	63609015	7	35178											
NRP2	8828	broad.mit.edu	37	chr2	206628528	206628528	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtaccaggccacgggcggCcgcggggtggcgctgcaggt	19	13	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:206628528C>G	ENST00000357785.5	+	13	2206	c.2175C>G	c.(2173-2175)ggC>ggG	p.G725G	NRP2_ENST00000540841.1_Silent_p.G725G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000272849.3_Silent_p.G725G|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000360409.3_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G|NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000357118.4_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCACGGGCGGCCGCGGGGTGG	0.692											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2173-2175)ggC>ggG		neuropilin 2							38	45	42					2																	206628528		2203	4298	6501	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206628528C>G	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2175C>G	2.37:g.206628528C>G			OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000357118.4_Silent_p.G725G|NRP2_ENST00000272849.3_Silent_p.G725G|NRP2_ENST00000540841.1_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000357785.5_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G	p.G725G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			13	2966	+			725			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.2175C>G	CCDS46496.1																																																																																				0.692	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			6	58	0	0	0	1	0	6	58					G	206628528	C	G	206628528	2	3	395	1	0	0	0	0	0	0	0	1	10661	726	26	4		4	NRP2	2	206628528	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	27038170	206628528	36570845	8	35179											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	36	0	0	0	1	0	24	36					T	209113112	C	T	209113112	3	4	395	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	2484584	209113112	34086261	9	35180											
IHH	3549	broad.mit.edu	37	chr2	219922332	219922332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtggtggccgtcctcgtCccagccctcggtcacccgca	12	17	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:219922332C>T	ENST00000295731.6	-	2	399	c.400G>A	c.(400-402)Gac>Aac	p.D134N	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	134					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCCTCGTCCCAGCCCTCG	0.627																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(400-402)Gac>Aac		indian hedgehog							65	55	59					2																	219922332		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219922332C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.400G>A	2.37:g.219922332C>T	ENSP00000295731:p.Asp134Asn						p.D134N	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	399	-		Renal(207;0.0915)	134					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.400G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	37	6.059759	0.97246	.	.	ENSG00000163501	ENST00000295731	D	0.99582	-6.22	5.78	5.78	0.91487	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98308	1.0522	10	0.49607	T	0.09	-27.9432	19.613	0.95618	0.0:1.0:0.0:0.0	.	134	Q14623	IHH_HUMAN	N	134	ENSP00000295731:D134N	ENSP00000295731:D134N	D	-	1	0	IHH	219630576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.792000	0.85828	2.722000	0.93159	0.650000	0.86243	GAC		0.627	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		14	17	0	0	0	1	0	14	17					T	219922332	C	T	219922332	3	4	395	1	0	0	0	0	1	0	0	0	7607	855	30	2	843	2	IHH	2	219922332	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	10809220	219922332	23277041	10	35181											
OR6B2	389090	broad.mit.edu	37	chr2	240969527	240969527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacacactcggtgcacaccAgggagctgaagaagtagagc	13	11	0	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:240969527A>G	ENST00000402971.2	-	1	379	c.320T>C	c.(319-321)cTg>cCg	p.L107P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107						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)		GGTGCACACCAGGGAGCTGAA	0.617																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(319-321)cTg>cCg		olfactory receptor, family 6, subfamily B, member 2							23	23	23					2																	240969527		1836	4052	5888	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969527A>G		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.320T>C	2.37:g.240969527A>G	ENSP00000384563:p.Leu107Pro						p.L107P	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		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)	1	379	-		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)	107					B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.320T>C	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	a	11.77	1.738400	0.30774	.	.	ENSG00000182083	ENST00000402971	T	0.03663	3.85	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	N	0.002512	T	0.21267	0.0512	M	0.93283	3.4	0.49299	D	0.999772	D	0.89917	1.0	D	0.87578	0.998	T	0.00790	-1.1565	10	0.87932	D	0	.	6.645	0.22931	0.8938:0.0:0.1062:0.0	.	107	Q6IFH4	OR6B2_HUMAN	P	107	ENSP00000384563:L107P	ENSP00000384563:L107P	L	-	2	0	OR6B2	240618200	0.029000	0.19370	0.767000	0.31495	0.106000	0.19336	2.594000	0.46189	1.938000	0.56188	0.482000	0.46254	CTG		0.617	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		11	17	0	0	0	1	0	11	17					G	240969527	A	G	240969527	3	3	395	1	0	0	0	0	1	0	0	0	11188	188	7	3	620	3	OR6B2	2	240969527	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	21047195	240969527	2229846	11	35182											
SCN11A	11280	broad.mit.edu	37	chr3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattccccgcagaggatgcGgaataccactaggaaggagt	12	11	0	1	rs537371340		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:38938452G>A	ENST00000302328.3	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R763C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					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)	CAGAGGATGCGGAATACCACT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		16955	0.0		0.0	False		,,,				2504	0.001					ENST00000450244.1																			0				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						c.(2287-2289)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						125	113	117					3																	38938452		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938452G>A	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.2287C>T	3.37:g.38938452G>A	ENSP00000307599:p.Arg763Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C	p.R763C			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2485	-			763					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2287C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468244	0.96274	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	763	Q9UI33	SCNBA_HUMAN	C	763	ENSP00000307599:R763C;ENSP00000400945:R763C;ENSP00000416757:R763C;ENSP00000408028:R763C	ENSP00000307599:R763C	R	-	1	0	SCN11A	38913456	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.812000	0.86109	2.827000	0.97445	0.650000	0.86243	CGC		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	25	0	0	0	1	0	4	25					A	38938452	G	A	38938452	3	1	395	1	0	0	0	0	1	0	0	0	13913	1116	39	1	3140	1	SCN11A	3	38938452	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		38938452	159083978	12	35183											
ZNF621	285268	broad.mit.edu	37	chr3	40574112	40574112	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttattgtccatcagagaaTtcatactggggagaaacctt	8	7	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:40574112T>G	ENST00000339296.5	+	5	1303	c.851T>G	c.(850-852)aTt>aGt	p.I284S	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	284					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)		CATCAGAGAATTCATACTGGG	0.433																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(850-852)aTt>aGt		zinc finger protein 621							64	71	68					3																	40574112		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574112T>G	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.851T>G	3.37:g.40574112T>G	ENSP00000340841:p.Ile284Ser					ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S	p.I284S	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	1303	+			284					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.851T>G	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	t	10.04	1.241208	0.22711	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.17691	2.26;2.26;2.26	3.75	-0.011	0.13994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.539850	0.13915	U	0.353974	T	0.27731	0.0682	L	0.49699	1.58	0.09310	N	1	P;D	0.89917	0.521;1.0	B;D	0.81914	0.343;0.995	T	0.09707	-1.0662	10	0.87932	D	0	.	3.5546	0.07860	0.167:0.1995:0.0:0.6335	.	173;284	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	S	284;284;173	ENSP00000386051:I284S;ENSP00000340841:I284S;ENSP00000413236:I173S	ENSP00000340841:I284S	I	+	2	0	ZNF621	40549116	0.000000	0.05858	0.000000	0.03702	0.426000	0.31534	0.942000	0.29017	0.001000	0.14605	-0.344000	0.07964	ATT		0.433	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		10	23	0	0	0	1	0	10	23					G	40574112	T	G	40574112	3	3	395	1	0	0	0	0	1	0	0	0	18042	1493	52	5	865	5	ZNF621	3	40574112	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	1635660	40574112	157448318	13	35184											
FAM116A	201627	broad.mit.edu	37	chr3	57678580	57678580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccaggcggagaagctgtCccagcgcagcaggccccggc	15	16	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:57678580C>T	ENST00000311128.5	-	1	236	c.166G>A	c.(166-168)Gac>Aac	p.D56N	RP11-755B10.3_ENST00000465933.1_lincRNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	56					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GAGAAGCTGTCCCAGCGCAGC	0.746																																						ENST00000311128.5																			0											c.(166-168)Gac>Aac		DENN/MADD domain containing 6A							23	23	23					3																	57678580		2182	4274	6456	SO:0001583	missense	201627							g.chr3:57678580C>T	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.166G>A	3.37:g.57678580C>T	ENSP00000311401:p.Asp56Asn						p.D56N	NM_152678.2	NP_689891.1					1	236	-								Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.166G>A	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833191	0.91036	.	.	ENSG00000174839	ENST00000311128	.	.	.	4.51	3.63	0.41609	.	0.054165	0.64402	D	0.000001	T	0.54679	0.1873	N	0.24115	0.695	0.58432	D	0.999996	D	0.63880	0.993	D	0.72338	0.977	T	0.48747	-0.9008	9	0.26408	T	0.33	-0.5388	11.5762	0.50862	0.0:0.909:0.0:0.091	.	56	Q8IWF6	F116A_HUMAN	N	56	.	ENSP00000311401:D56N	D	-	1	0	FAM116A	57653620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.819000	0.62664	1.020000	0.39573	0.591000	0.81541	GAC		0.746	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		4	8	0	0	0	1	0	4	8					T	57678580	C	T	57678580	3	4	395	1	0	0	0	0	1	0	0	0	5407	855	30	2	1740	2	FAM116A	3	57678580	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	17104468	57678580	140343850	14	35185											
PLXNA1	5361	broad.mit.edu	37	chr3	126748762	126748762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgacagcctgcgctcgcGcacgcccatgatcacgcccg	10	21	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:126748762G>A	ENST00000393409.2	+	27	4916	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1616H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1639					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)		CTGCGCTCGCGCACGCCCATG	0.716																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4846-4848)cGc>cAc		plexin A1							56	54	54					3																	126748762		2203	4299	6502	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748762G>A	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.4916G>A	3.37:g.126748762G>A	ENSP00000377061:p.Arg1639His					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1639H	p.R1616H			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	4916	+			1639						Missense_Mutation	SNP	ENST00000393409.2	37	c.4847G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886801	0.72410	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12465	2.68;2.68	3.71	3.71	0.42584	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000007	T	0.35364	0.0929	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	T	0.19353	-1.0308	10	0.52906	T	0.07	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	253;1639	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	H	1639;1616	ENSP00000377061:R1639H;ENSP00000251772:R1616H	ENSP00000251772:R1616H	R	+	2	0	PLXNA1	128231452	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	9.572000	0.98179	2.069000	0.61940	0.313000	0.20887	CGC		0.716	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	44	0	0	0	1	0	3	44					A	126748762	G	A	126748762	3	1	395	1	0	0	0	0	1	0	0	0	12119	1087	38	1	5022	1	PLXNA1	3	126748762	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	69070182	126748762	71273668	15	35186											
CCNG2	901	broad.mit.edu	37	chr4	78080651	78080652	+	Frame_Shift_Ins	INS	-	-	A													tggacaggttcttggctcttINSatgaaggtatttcatcattt							TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:78080651_78080652insA	ENST00000316355.5	+	3	626_627	c.270_271insA	c.(271-273)atgfs	p.M91fs	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.M91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	91					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTGGCTCTTATGAAGGTATT	0.356																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(268-273)cttgaafs		cyclin G2																																				SO:0001589	frameshift_variant	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78080651_78080652insA	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.271dupA	4.37:g.78080652_78080652dupA	ENSP00000315743:p.Met91fs					CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			3	626_627	+			91					B4DF25|Q6FGA7|Q6FGC6	Frame_Shift_Ins	INS	ENST00000316355.5	37	c.270_271insA	CCDS3581.1																																																																																				0.356	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		13	73						13	73	---	---	---	---	A	78080652	-	A	78080651	7	5	395	1	0	1	1	0	0	0	0	0	2924	1741	61	0	276	0	CCNG2	4	78080651	Frame_Shift_Ins	INS	-	TCGA-QH-A6X9-01A-12D-A32B-08		78080651	113073625	16	35187											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124846	26124846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcaccacaaggccaaggGcaagtgatttgacaggtatc	12	9	1	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:26124846G>A	ENST00000602637.1	+	1	416	c.386G>A	c.(385-387)gGc>gAc	p.G129D	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	129						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGGCCAAGGGCAAGTGATTT	0.542																																						ENST00000602637.1																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(385-387)gGc>gAc		histone cluster 1, H2ac							66	66	66					6																	26124846		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124846G>A	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.386G>A	6.37:g.26124846G>A	ENSP00000473534:p.Gly129Asp					HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D	p.G129D			Q93077	H2A1C_HUMAN			1	416	+			129					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.386G>A	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.938235	0.34189	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	D;D	0.90732	-2.72;-2.72	5.5	5.5	0.81552	.	0.000000	0.43416	D	0.000578	T	0.76300	0.3968	N	0.24115	0.695	0.31434	N	0.672808	P	0.35077	0.483	B	0.27887	0.084	T	0.78843	-0.2044	10	0.62326	D	0.03	.	15.0806	0.72110	0.0:0.152:0.848:0.0	.	129	Q93077	H2A1C_HUMAN	D	129	ENSP00000367022:G129D;ENSP00000321389:G129D	ENSP00000321389:G129D	G	+	2	0	HIST1H2AC	26232825	0.996000	0.38824	0.999000	0.59377	0.753000	0.42808	1.504000	0.35726	2.750000	0.94351	0.467000	0.42956	GGC		0.542	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		17	38	0	0	0	1	0	17	38					A	26124846	G	A	26124846	3	1	395	1	0	0	0	0	1	0	0	0	7130	1203	42	2	388	2	HIST1H2AC	6	26124846	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		26124846	144990221	17	35188											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782965	27782965	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacaaggtgctgaagcaGgtccaccccgacaccggcat	12	13	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:27782965G>C	ENST00000359465.4	+	1	144	c.144G>C	c.(142-144)caG>caC	p.Q48H	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	48					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						TGCTGAAGCAGGTCCACCCCG	0.537																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(142-144)caG>caC		histone cluster 1, H2bm							201	189	193					6																	27782965		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782965G>C	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.144G>C	6.37:g.27782965G>C	ENSP00000352442:p.Gln48His						p.Q48H	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	144	+			48					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.144G>C	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	6.049	0.377388	0.11466	.	.	ENSG00000196374	ENST00000359465	T	0.29397	1.57	4.29	0.268	0.15626	Histone-fold (2);Histone core (1);	0.000000	0.56097	U	0.000033	T	0.46639	0.1403	H	0.96015	3.755	0.51233	D	0.999918	D	0.54047	0.964	P	0.58660	0.843	T	0.53229	-0.8468	10	0.87932	D	0	.	7.8524	0.29462	0.2254:0.1206:0.654:0.0	.	48	Q99879	H2B1M_HUMAN	H	48	ENSP00000352442:Q48H	ENSP00000352442:Q48H	Q	+	3	2	HIST1H2BM	27890944	1.000000	0.71417	0.977000	0.42913	0.005000	0.04900	1.993000	0.40747	-0.312000	0.08741	-2.589000	0.00165	CAG		0.537	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		18	147	0	0	0	1	0	18	147					C	27782965	G	C	27782965	3	2	395	1	0	0	0	0	1	0	0	0	7152	991	35	4	146	4	HIST1H2BM	6	27782965	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	1658119	27782965	143332102	18	35189											
GRM4	2914	broad.mit.edu	37	chr6	34029798	34029798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccgactgggcgatgcaCacgccccctgcaggaggggc	14	15	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:34029798C>T	ENST00000538487.2	-	4	1187	c.744G>A	c.(742-744)gtG>gtA	p.V248V	GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000544773.2_Silent_p.V79V|GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000374181.4_Silent_p.V248V|GRM4_ENST00000609222.1_Silent_p.V115V	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	248					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGCGATGCACACGCCCCCTG	0.642																																						ENST00000545715.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48								glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						80	72	75					6																	34029798		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34029798C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.744G>A	6.37:g.34029798C>T						GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000374181.3_Silent_p.V248V|GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000538487.1_Silent_p.V248V|GRM4_ENST00000544773.1_Silent_p.V79V				Q14833	GRM4_HUMAN			0	297	-								B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Translation_Start_Site	SNP	ENST00000538487.2	37		CCDS4787.1																																																																																				0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			15	28	0	0	0	1	0	15	28					T	34029798	C	T	34029798	2	4	395	1	0	0	0	0	0	0	0	1	6799	465	17	2		2	GRM4	6	34029798	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	6246833	34029798	137085269	19	35190											
KLHDC3	116138	broad.mit.edu	37	chr6	42985952	42985952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggactcttatctgtacaAaggtctgctctttctttttt	6	9	5	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:42985952A>G	ENST00000326974.4	+	5	712	c.517A>G	c.(517-519)Aag>Gag	p.K173E	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	173					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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCTGTACAAAGGTCTGCTC	0.448																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(517-519)Aag>Gag		kelch domain containing 3							141	122	129					6																	42985952		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42985952A>G	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.517A>G	6.37:g.42985952A>G	ENSP00000313995:p.Lys173Glu					KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	p.K173E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	712	+			173					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.517A>G	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247246	0.22880	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.19394	2.15;2.33;2.15	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.048451	0.85682	D	0.000000	T	0.16041	0.0386	L	0.35723	1.085	0.80722	D	1	B;B;P	0.49783	0.044;0.084;0.928	B;B;P	0.51657	0.04;0.066;0.676	T	0.02037	-1.1225	10	0.31617	T	0.26	.	14.1501	0.65378	1.0:0.0:0.0:0.0	.	114;39;173	E7ERR0;F8W6A4;Q9BQ90	.;.;KLDC3_HUMAN	E	173;173;39;173;146;114	ENSP00000313995:K173E;ENSP00000244670:K39E;ENSP00000331562:K114E	ENSP00000244670:K39E	K	+	1	0	KLHDC3	43093930	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.450000	0.73477	2.087000	0.62958	0.459000	0.35465	AAG		0.448	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		18	104	0	0	0	1	0	18	104					G	42985952	A	G	42985952	3	3	395	1	0	0	0	0	1	0	0	0	8357	15	1	3	531	3	KLHDC3	6	42985952	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	8956154	42985952	128129115	20	35191											
TAAR9	134860	broad.mit.edu	37	chr6	132860099	132860099	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaagatatttttggtggCcaagcatcaggctaggaaga	12	6	1	2	rs558339339		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:132860099C>T	ENST00000434551.1	+	0	671					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						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)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTTTGGTGGCCAAGCATCAG	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19052	0.0		0.0	False		,,,				2504	0.0				Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							93	91	91					6																	132860099		1877	4108	5985			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860099C>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860099C>T								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	671	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.433	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		18	48	0	0	0	1	0	18	48					T	132860099	C	T	132860099	1	4	395	0	1	0	0	0	0	0	0	0	15491	739	26	2		2	TAAR9	6	132860099	RNA	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	89874147	132860099	38254968	21	35192											
MLLT4	4301	broad.mit.edu	37	chr6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctaaggattactgcatcGcccgggtaaggaactttatc	9	11	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:168281192G>A	ENST00000447894.2	+	6	892	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				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						c.(892-894)Gcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99	110	106					6																	168281192		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281192G>A	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.892G>A	6.37:g.168281192G>A	ENSP00000404595:p.Ala298Thr					MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T	p.A298T			P55196	AFAD_HUMAN		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)	6	1034	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	298			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.892G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404298|4.404298	0.83230|0.83230	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.057014|.	0.64402|.	D|.	0.000001|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.69078|.	0.997;0.965;0.965|.	P;P;P|.	0.59825|.	0.864;0.698;0.637|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.54805|.	T|.	0.06|.	-8.2159|-8.2159	18.8279|18.8279	0.92125|0.92125	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297;298;297|.	P55196-5;P55196-6;P55196-2|.	.;.;.|.	T|H	298;298;298;298;297;298;297;298|11	ENSP00000341118:A298T;ENSP00000252692:A298T;ENSP00000375956:A298T;ENSP00000355771:A298T;ENSP00000375960:A297T;ENSP00000383623:A297T;ENSP00000404595:A298T|.	ENSP00000345834:A298T|.	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168024041|168024041	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.589000|0.589000	0.36550|0.36550	7.109000|7.109000	0.77062|0.77062	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		10	102	0	0	0	1	0	10	102					A	168281192	G	A	168281192	3	1	395	1	0	0	0	0	1	0	0	0	9629	1087	38	1	914	1	MLLT4	6	168281192	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	35421093	168281192	2833875	22	35193											
PMS2	5395	broad.mit.edu	37	chr7	6045657	6045657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatggccttagcaggtTctgtactagagaaatcagtt	11	6	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:6045657T>G	ENST00000265849.7	-	2	134	c.29A>C	c.(28-30)gAa>gCa	p.E10A	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A|PMS2_ENST00000441476.2_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	10					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)		CTTAGCAGGTTCTGTACTAGA	0.388			"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																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				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						c.(28-30)gAa>gCa	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							145	181	167					7																	6045657		1353	2303	3656	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045657T>G		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.29A>C	7.37:g.6045657T>G	ENSP00000265849:p.Glu10Ala					PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A	p.E10A	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	134	-		Ovarian(82;0.0694)	10					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.29A>C	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213874	0.58452	.	.	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.87412	-1.97;-2.25;-2.18	5.67	5.67	0.87782	.	0.186557	0.44483	D	0.000458	D	0.89884	0.6844	L	0.46157	1.445	0.80722	D	1	P;D;D	0.65815	0.486;0.995;0.991	B;D;P	0.63703	0.272;0.917;0.884	D	0.87490	0.2426	10	0.21540	T	0.41	.	15.9013	0.79380	0.0:0.0:0.0:1.0	.	10;10;10	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	A	10	ENSP00000265849:E10A;ENSP00000371758:E10A;ENSP00000384308:E10A	ENSP00000265849:E10A	E	-	2	0	PMS2	6012183	1.000000	0.71417	0.932000	0.37286	0.965000	0.64279	3.557000	0.53741	2.151000	0.67156	0.477000	0.44152	GAA		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		17	139	0	0	0	1	0	17	139					G	6045657	T	G	6045657	3	3	395	1	0	0	0	0	1	0	0	0	12143	1783	62	5	2615	5	PMS2	7	6045657	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		6045657	153093006	23	35194											
SLC26A4	5172	broad.mit.edu	37	chr7	107303781	107303781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgctaaagactcttGtgcccatcttggagtggctc	12	9	2	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:107303781G>T	ENST00000265715.3	+	3	429	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000440512.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	69					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						AAAGACTCTTGTGCCCATCTT	0.468									Pendred syndrome																													ENST00000265715.3																			0				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						c.(205-207)Gtg>Ttg		solute carrier family 26 (anion exchanger), member 4							159	148	152					7																	107303781		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107303781G>T	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.205G>T	7.37:g.107303781G>T	ENSP00000265715:p.Val69Leu						p.V69L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			3	429	+			69					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.205G>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.817808	0.00595	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.90069	-2.61;-2.61	4.81	-2.57	0.06248	.	0.399313	0.22512	N	0.059096	T	0.55065	0.1897	N	0.00602	-1.34	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56074	-0.8039	10	0.02654	T	1	.	2.9468	0.05848	0.1135:0.3062:0.1135:0.4668	.	69	O43511	S26A4_HUMAN	L	69	ENSP00000265715:V69L;ENSP00000394760:V69L	ENSP00000265715:V69L	V	+	1	0	SLC26A4	107091017	0.000000	0.05858	0.853000	0.33588	0.224000	0.24922	-0.832000	0.04400	-0.400000	0.07656	-1.139000	0.01908	GTG		0.468	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		4	114	1	0	0.150653	1	0.150653	4	114					T	107303781	G	T	107303781	3	4	395	1	0	0	0	0	1	0	0	0	14519	1377	48	4	211	4	SLC26A4	7	107303781	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	101258124	107303781	51834882	24	35195											
JPH1	56704	broad.mit.edu	37	chr8	75157237	75157237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggggctttggggaggAagcaggagagtggctgtgtt	19	5	1	1	rs149108334		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:75157237A>G	ENST00000342232.4	-	4	1472	c.1432T>C	c.(1432-1434)Tcc>Ccc	p.S478P	JPH1_ENST00000518195.1_5'Flank	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	478					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTTGGGGAGGAAGCAGGAGAG	0.537																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1432-1434)Tcc>Ccc		junctophilin 1							141	129	133					8																	75157237		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75157237A>G	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1432T>C	8.37:g.75157237A>G	ENSP00000344488:p.Ser478Pro						p.S478P	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1472	-	Breast(64;0.00576)		478					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1432T>C	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	A	1.215	-0.628580	0.03610	.	.	ENSG00000104369	ENST00000342232	T	0.57436	0.4	4.14	-1.46	0.08800	.	0.364053	0.32120	N	0.006554	T	0.31071	0.0785	L	0.29908	0.895	0.34242	D	0.677745	B	0.02656	0.0	B	0.01281	0.0	T	0.08659	-1.0711	10	0.25751	T	0.34	.	5.4381	0.16492	0.4317:0.1592:0.409:0.0	.	478	Q9HDC5	JPH1_HUMAN	P	478	ENSP00000344488:S478P	ENSP00000344488:S478P	S	-	1	0	JPH1	75319791	0.971000	0.33674	0.060000	0.19600	0.067000	0.16453	0.601000	0.24119	-0.468000	0.06922	-0.417000	0.06048	TCC		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			4	88	0	0	0	1	0	4	88					G	75157237	A	G	75157237	3	3	395	1	0	0	0	0	1	0	0	0	7960	246	9	3	561	3	JPH1	8	75157237	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08		75157237	71206785	25	35196											
CNGB3	54714	broad.mit.edu	37	chr8	87645034	87645034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaaattcaagagttgAaaaacaatttcaaataaagt	5	3	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:87645034A>G	ENST00000320005.5	-	11	1313	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	422					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAAGAGTTGAAAAACAATTT	0.353																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1264-1266)ttT>ttC		cyclic nucleotide gated channel beta 3							56	57	57					8																	87645034		2203	4298	6501	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645034A>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1266T>C	8.37:g.87645034A>G							p.F422F	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			11	1313	-			422					C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.1266T>C	CCDS6244.1																																																																																				0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		24	20	0	0	0	1	0	24	20					G	87645034	A	G	87645034	2	3	395	1	0	0	0	0	0	0	0	1	3601	243	9	3		3	CNGB3	8	87645034	Silent	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	12487797	87645034	58718988	26	35197											
MTSS1	9788	broad.mit.edu	37	chr8	125597328	125597328	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaattttaggagttacCtttttttgctttcttctgca	8	7	2	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:125597328C>T	ENST00000518547.1	-	6	933	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	MTSS1_ENST00000378017.3_Splice_Site_p.G154R|MTSS1_ENST00000325064.5_Splice_Site_p.V154M|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	154	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.e6+1		metastasis suppressor 1							264	240	248					8																	125597328		2203	4300	6503	SO:0001630	splice_region_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597328C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+1G>A	8.37:g.125597328C>T						MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.V154_splice|MTSS1_ENST00000378017.3_Splice_Site_p.G154_splice	p.G154_splice	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	933	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		154			IMD.		J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	ENST00000518547.1	37	c.460_splice	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.485230|4.485230	0.84854|0.84854	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547|ENST00000325064	T;T|T	0.41065|0.32023	1.01;1.09|1.47	5.21|5.21	4.32|4.32	0.51571|0.51571	IRSp53/MIM homology domain (IMD) (3);|.	0.100221|.	0.64402|.	D|.	0.000002|.	T|T	0.49525|0.49525	0.1562|0.1562	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.983|.	T|T	0.50004|0.50004	-0.8878|-0.8878	9|6	.|.	.|.	.|.	-10.5082|-10.5082	14.7662|14.7662	0.69640|0.69640	0.1459:0.8541:0.0:0.0|0.1459:0.8541:0.0:0.0	.|.	154;154|.	O43312;O43312-4|.	MTSS1_HUMAN;.|.	R|M	154|154	ENSP00000367256:G154R;ENSP00000429064:G154R|ENSP00000322804:V154M	.|.	G|V	-|-	1|1	0|0	MTSS1|MTSS1	125666509|125666509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.061000|7.061000	0.76699|0.76699	1.184000|1.184000	0.42957|0.42957	0.555000|0.555000	0.69702|0.69702	GGG|GTG		0.373	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Missense_Mutation	52	90	0	0	0	1	0	52	90					T	125597328	C	T	125597328	5	4	395	1	0	0	0	0	0	0	1	0	9962	695	24	2	1843	2	MTSS1	8	125597328	Splice_Site	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	37952294	125597328	20766694	27	35198											
KIAA0020	9933	broad.mit.edu	37	chr9	2829902	2829902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgcagcatcttcctcaCgtggcctttaaaacttctga	7	13	3	1	rs558845198		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr9:2829902C>T	ENST00000397885.2	-	8	930	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	242	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCTTCCTCACGTGGCCTTTA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20447	0.0		0.0	False		,,,				2504	0.001					ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(724-726)Gtg>Atg		KIAA0020							199	174	182					9																	2829902		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829902C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.724G>A	9.37:g.2829902C>T	ENSP00000380982:p.Val242Met					KIAA0020_ENST00000469168.1_5'UTR	p.V242M	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	8	930	-			242			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.724G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361899	0.82353	.	.	ENSG00000080608	ENST00000397885	T	0.16743	2.32	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	M	0.78637	2.42	0.80722	D	1	D;D	0.62365	0.991;0.97	P;P	0.49012	0.598;0.474	T	0.07233	-1.0783	10	0.62326	D	0.03	-0.9339	20.8794	0.99867	0.0:1.0:0.0:0.0	.	102;242	B2RDG4;Q15397	.;K0020_HUMAN	M	242	ENSP00000380982:V242M	ENSP00000380982:V242M	V	-	1	0	KIAA0020	2819902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.753000	0.68736	2.941000	0.99782	0.655000	0.94253	GTG		0.448	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		29	99	0	0	0	1	0	29	99					T	2829902	C	T	2829902	3	4	395	1	0	0	0	0	1	0	0	0	8152	536	19	1	1266	1	KIAA0020	9	2829902	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		2829902	138383529	28	35199											
PPFIBP2	8495	broad.mit.edu	37	chr11	7669667	7669667	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagagcgtgtgtgtgcaTggctggaggactttggcctg	17	8	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:7669667T>C	ENST00000299492.4	+	18	2084	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	566	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTGTGTGCATGGCTGGAGGA	0.547																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1696-1698)Tgg>Cgg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							165	124	138					11																	7669667		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7669667T>C	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1696T>C	11.37:g.7669667T>C	ENSP00000299492:p.Trp566Arg					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R	p.W566R	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	18	2084	+			566			SAM 1.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1696T>C	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451254	0.84209	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.74	5.74	0.90152	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	D	0.82660	0.5085	H	0.95114	3.625	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	0.87696	0.2557	10	0.87932	D	0	-9.1173	13.9867	0.64339	0.0:0.0:0.0:1.0	.	454;454;489;408;423;566	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	R	566;408;489;454;423	ENSP00000299492:W566R;ENSP00000436498:W408R;ENSP00000435469:W454R;ENSP00000437321:W423R	ENSP00000299492:W566R	W	+	1	0	PPFIBP2	7626243	1.000000	0.71417	0.926000	0.36857	0.995000	0.86356	8.040000	0.89188	2.194000	0.70268	0.459000	0.35465	TGG		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		4	64	0	0	0	1	0	4	64					C	7669667	T	C	7669667	3	2	395	1	0	0	0	0	1	0	0	0	12314	1464	51	3	1762	3	PPFIBP2	11	7669667	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		7669667	127336849	29	35200											
OR8H3	390152	broad.mit.edu	37	chr11	55890587	55890587	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgtctctcatctcttgGgagtcaccatcttctatgga	8	12	6	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:55890587G>T	ENST00000313472.3	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.383																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(739-741)Gga>Tga		olfactory receptor, family 8, subfamily H, member 3							116	111	113					11																	55890587		2201	4296	6497	SO:0001587	stop_gained	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890587G>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.739G>T	11.37:g.55890587G>T	ENSP00000323928:p.Gly247*						p.G247*	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	739	+	Esophageal squamous(21;0.00693)		247					Q6IFB7	Nonsense_Mutation	SNP	ENST00000313472.3	37	c.739G>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	7.048	0.563860	0.13498	.	.	ENSG00000181761	ENST00000313472	.	.	.	3.62	2.68	0.31781	.	0.261336	0.27668	N	0.018351	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.3412	0.26637	0.0923:0.0:0.7398:0.1679	.	.	.	.	X	247	.	ENSP00000323928:G247X	G	+	1	0	OR8H3	55647163	0.001000	0.12720	0.605000	0.28930	0.201000	0.24016	1.018000	0.30002	0.612000	0.30071	0.173000	0.16961	GGA		0.383	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		29	38	1	0	7.41945e-09	1	7.94195e-09	29	38					T	55890587	G	T	55890587	4	4	395	1	0	0	0	0	0	1	0	0	11239	1233	43	4	741	4	OR8H3	11	55890587	Nonsense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	48220920	55890587	79115929	30	35201											
PELI3	246330	broad.mit.edu	37	chr11	66243323	66243323	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtccgctgcgggcacgtCcatggctaccacggctgggg	15	14	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:66243323C>T	ENST00000320740.7	+	8	1255	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Silent_p.V341V	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	365					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCGGGCACGTCCATGGCTACC	0.711																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1021-1023)gtC>gtT		pellino E3 ubiquitin protein ligase family member 3							9	10	9					11																	66243323		2077	4094	6171	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66243323C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1095C>T	11.37:g.66243323C>T						PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000320740.7_Silent_p.V365V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	p.V341V	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1307	+			365					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.1023C>T	CCDS31615.1																																																																																				0.711	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		12	12	0	0	0	1	0	12	12					T	66243323	C	T	66243323	2	4	395	1	0	0	0	0	0	0	0	1	11723	842	30	2		2	PELI3	11	66243323	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	10352736	66243323	68763193	31	35202											
FAT3	120114	broad.mit.edu	37	chr11	92538511	92538511	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatagcccagtgtgtgAtcaggtgagatttggggata	14	5	1	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:92538511A>T	ENST00000298047.6	+	10	9106	c.9089A>T	c.(9088-9090)gAt>gTt	p.D3030V	FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28. {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)				CCAGTGTGTGATCAGGTGAGA	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(9088-9090)gAt>gTt		FAT atypical cadherin 3							57	56	56					11																	92538511		1937	4148	6085	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92538511A>T	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.9089A>T	11.37:g.92538511A>T	ENSP00000298047:p.Asp3030Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V	p.D3030V			Q8TDW7	FAT3_HUMAN			10	9106	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3030			Cadherin 28.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9089A>T		.	.	.	.	.	.	.	.	.	.	A	16.01	3.002759	0.54254	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01705	4.68;4.68;4.68	5.91	5.91	0.95273	.	.	.	.	.	T	0.03477	0.0100	L	0.35644	1.08	0.80722	D	1	P	0.48089	0.905	P	0.47827	0.558	T	0.63359	-0.6655	9	0.35671	T	0.21	.	16.3469	0.83138	1.0:0.0:0.0:0.0	.	3030	Q8TDW7-3	.	V	3030;3030;2880	ENSP00000298047:D3030V;ENSP00000387040:D3030V;ENSP00000432586:D2880V	ENSP00000298047:D3030V	D	+	2	0	FAT3	92178159	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	9.262000	0.95591	2.263000	0.75096	0.528000	0.53228	GAT		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	9	0	0	0	1	0	5	9					T	92538511	A	T	92538511	3	4	395	1	0	0	0	0	1	0	0	0	5691	333	12	5	9127	5	FAT3	11	92538511	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	26295188	92538511	42468005	32	35203											
CEP164	22897	broad.mit.edu	37	chr11	117282521	117282521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcccagtgagcagctcCggctcctacagcactcccat	7	18	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:117282521C>T	ENST00000278935.3	+	32	4321	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1392					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)		TGAGCAGCTCCGGCTCCTACA	0.597																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4174-4176)Cgg>Tgg		centrosomal protein 164kDa							82	79	80					11																	117282521		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282521C>T	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.4174C>T	11.37:g.117282521C>T	ENSP00000278935:p.Arg1392Trp					CEP164_ENST00000533706.1_3'UTR	p.R1392W	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	32	4321	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1392					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4174C>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531643	0.85706	.	.	ENSG00000110274	ENST00000278935	T	0.31769	1.48	5.27	5.27	0.74061	.	0.122200	0.37857	N	0.001905	T	0.55924	0.1951	M	0.71581	2.175	0.42732	D	0.993714	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60224	-0.7305	10	0.87932	D	0	-8.7238	16.6925	0.85325	0.0:1.0:0.0:0.0	.	1392;1387	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	W	1392	ENSP00000278935:R1392W	ENSP00000278935:R1392W	R	+	1	2	CEP164	116787731	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.288000	0.43514	2.471000	0.83476	0.655000	0.94253	CGG		0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		7	133	0	0	0	1	0	7	133					T	117282521	C	T	117282521	3	4	395	1	0	0	0	0	1	0	0	0	3249	643	23	1	4292	1	CEP164	11	117282521	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	24744010	117282521	17723995	33	35204											
ACACB	32	broad.mit.edu	37	chr12	109675033	109675033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagctggaacttaacCggatgcgtaacttcgatctg	9	12	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr12:109675033C>T	ENST00000338432.7	+	34	4629	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W|ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1504					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)	GGAACTTAACCGGATGCGTAA	0.542																																						ENST00000338432.7																			0				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						c.(4510-4512)Cgg>Tgg		acetyl-CoA carboxylase beta	Biotin(DB00121)						168	139	149					12																	109675033		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109675033C>T	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.4510C>T	12.37:g.109675033C>T	ENSP00000341044:p.Arg1504Trp					ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W	p.R1504W			O00763	ACACB_HUMAN			34	4629	+			1504					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4510C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528172	0.85706	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88397	0.3012	10	0.87932	D	0	.	18.6363	0.91379	0.0:1.0:0.0:0.0	.	1504	O00763	ACACB_HUMAN	W	1504;1504;1434;735;170	ENSP00000341044:R1504W;ENSP00000367079:R1504W;ENSP00000367085:R1434W;ENSP00000444075:R170W	ENSP00000341044:R1504W	R	+	1	2	ACACB	108159416	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.831000	0.55776	2.586000	0.87340	0.555000	0.69702	CGG		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		31	62	0	0	0	1	0	31	62					T	109675033	C	T	109675033	3	4	395	1	0	0	0	0	1	0	0	0	107	643	23	1	4640	1	ACACB	12	109675033	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		109675033	24176862	34	35205											
ABHD13	84945	broad.mit.edu	37	chr13	108882243	108882243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaagcataccacatatggCcagcactttattttcattct	4	10	2	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr13:108882243C>T	ENST00000375898.3	+	2	978	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	226						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCACATATGGCCAGCACTTTA	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(676-678)gCc>gTc		abhydrolase domain containing 13							120	119	119					13																	108882243		2203	4300	6503	SO:0001583	missense	84945					integral to membrane	hydrolase activity	g.chr13:108882243C>T	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"Abhydrolase domain containing"	20293	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 6"	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.677C>T	13.37:g.108882243C>T	ENSP00000365063:p.Ala226Val						p.A226V	NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN			2	978	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		226					B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	c.677C>T	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310540	0.40895	.	.	ENSG00000139826	ENST00000375898	T	0.44482	0.92	6.02	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	N	0.25426	0.745	0.80722	D	1	P	0.40032	0.699	P	0.47786	0.557	T	0.04268	-1.0964	10	0.22706	T	0.39	-13.9553	14.808	0.69971	0.0:0.9302:0.0:0.0698	.	226	Q7L211	ABHDD_HUMAN	V	226	ENSP00000365063:A226V	ENSP00000365063:A226V	A	+	2	0	ABHD13	107680244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.995000	0.70631	2.857000	0.98124	0.650000	0.86243	GCC		0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		17	112	0	0	0	1	0	17	112					T	108882243	C	T	108882243	3	4	395	1	0	0	0	0	1	0	0	0	78	739	26	2	679	2	ABHD13	13	108882243	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		108882243	6287635	35	35206											
OR4K2	390431	broad.mit.edu	37	chr14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacaagtggcataattgCgttgtcctgttttattgttt	8	7	1	0	rs371172454		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398																																						ENST00000298642.2																			2	Substitution - Missense(2)	p.A207V(1)|p.A207E(1)	lung(1)|endometrium(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(619-621)gCg>gTg		olfactory receptor, family 4, subfamily K, member 2		C	VAL/ALA	0,4406		0,0,2203	312	312	312		620	4.1	0.9	14		312	1,8599		0,1,4299	no	missense	OR4K2	NM_001005501.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/315	20345046	1,13005	2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345046C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.620C>T	14.37:g.20345046C>T	ENSP00000298642:p.Ala207Val						p.A207V	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	656	+	all_cancers(95;0.00108)		207					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.620C>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197465	0.38806	0.0	1.16E-4	ENSG00000165762	ENST00000298642	T	0.35605	1.3	5.0	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.38374	0.1038	N	0.25060	0.705	0.28288	N	0.923682	D	0.64830	0.994	P	0.62491	0.903	T	0.15435	-1.0437	10	0.59425	D	0.04	.	7.7058	0.28648	0.0:0.8129:0.0:0.1871	.	207	Q8NGD2	OR4K2_HUMAN	V	207	ENSP00000298642:A207V	ENSP00000298642:A207V	A	+	2	0	OR4K2	19414886	0.000000	0.05858	0.866000	0.34008	0.186000	0.23388	-0.259000	0.08721	1.331000	0.45412	0.467000	0.42956	GCG		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			18	202	0	0	0	1	0	18	202					T	20345046	C	T	20345046	3	4	395	1	0	0	0	0	1	0	0	0	11072	768	27	1	622	1	OR4K2	14	20345046	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		20345046	87004494	36	35207											
OR6S1	341799	broad.mit.edu	37	chr14	21109290	21109290	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgcaagccaggcggagCagtgggccactgtcgcagaa	16	10	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:21109290C>A	ENST00000320704.3	-	1	560	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	187						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(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCGGAGCAGTGGGCCAC	0.567																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(559-561)ctG>ctT		olfactory receptor, family 6, subfamily S, member 1							67	66	66					14																	21109290		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109290C>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.561G>T	14.37:g.21109290C>A							p.L187L	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	560	-	all_cancers(95;0.00304)		187					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.561G>T	CCDS32038.1																																																																																				0.567	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			21	28	1	0	3.62473e-10	1	3.93542e-10	21	28					A	21109290	C	A	21109290	2	1	395	1	0	0	0	0	0	0	0	1	11209	697	25	4		4	OR6S1	14	21109290	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	764244	21109290	86240250	37	35208											
FUT8	2530	broad.mit.edu	37	chr14	66096323	66096323	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcggagaataacatatcttcAggtaagaaggttgggttaag	13	4	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:66096323A>T	ENST00000360689.5	+	6	2323	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	FUT8_ENST00000394586.2_Splice_Site_p.Q199L|FUT8_ENST00000394585.1_Splice_Site_p.Q199L|FUT8_ENST00000358307.2_Splice_Site_p.Q70L|FUT8_ENST00000557164.1_Splice_Site_p.Q36L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	199					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)			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)		ACATATCTTCAGGTAAGAAGG	0.383																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.e6+1		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							88	85	86					14																	66096323		2203	4300	6503	SO:0001630	splice_region_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66096323A>T	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.597+1A>T	14.37:g.66096323A>T						FUT8_ENST00000557164.1_Splice_Site_p.Q36_splice|FUT8_ENST00000394586.2_Splice_Site_p.Q199_splice|FUT8_ENST00000358307.2_Splice_Site_p.Q70_splice|FUT8_ENST00000394585.1_Splice_Site_p.Q199_splice	p.Q199_splice	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	6	2323	+			199					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Splice_Site	SNP	ENST00000360689.5	37	c.597_splice	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573204	0.86542	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.87971	2.92	0.80722	D	1	D;D	0.67145	0.982;0.996	D;D	0.73380	0.915;0.98	T	0.74450	-0.3661	10	0.87932	D	0	-8.9424	13.5154	0.61537	1.0:0.0:0.0:0.0	.	70;199	G3XAD2;Q9BYC5	.;FUT8_HUMAN	L	199;199;36;199;70	ENSP00000353910:Q199L;ENSP00000378087:Q199L;ENSP00000452433:Q36L;ENSP00000378086:Q199L;ENSP00000351057:Q70L	ENSP00000345865:Q199L	Q	+	2	0	FUT8	65166076	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.649000	0.91067	2.132000	0.65825	0.528000	0.53228	CAG		0.383	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480	Missense_Mutation	16	30	0	0	0	1	0	16	30					T	66096323	A	T	66096323	5	4	395	1	0	0	0	0	0	0	1	0	6110	202	7	5	709	5	FUT8	14	66096323	Splice_Site	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	44987033	66096323	41253217	38	35209											
TRPM1	4308	broad.mit.edu	37	chr15	31294434	31294434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggcattgccattccGtcgtcaattgctggtccgtg	11	11	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:31294434G>A	ENST00000256552.6	-	28	4616	c.4469C>T	c.(4468-4470)aCg>aTg	p.T1490M	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M|TRPM1_ENST00000542188.1_Missense_Mutation_p.T1507M	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)		TTGCCATTCCGTCGTCAATTG	0.488																																						ENST00000542188.1																			0				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						c.(4519-4521)aCg>aTg		transient receptor potential cation channel, subfamily M, member 1							211	190	197					15																	31294434		1974	4174	6148	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294434G>A	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.4469C>T	15.37:g.31294434G>A	ENSP00000256552:p.Thr1490Met					TRPM1_ENST00000256552.6_Missense_Mutation_p.T1490M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M	p.T1507M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		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)	27	4833	-		all_lung(180;1.92e-11)	1468						Missense_Mutation	SNP	ENST00000256552.6	37	c.4520C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975365	0.18736	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.53857	0.62;0.6;0.63	4.79	4.79	0.61399	.	1.061350	0.07299	N	0.873790	T	0.61123	0.2322	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.63880	0.993;0.991	P;P	0.59288	0.855;0.776	T	0.59873	-0.7372	10	0.72032	D	0.01	-2.7624	16.043	0.80698	0.0:0.0:1.0:0.0	.	1462;1468	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1468;1507;1490;1468	ENSP00000380897:T1468M;ENSP00000437849:T1507M;ENSP00000256552:T1490M	ENSP00000256552:T1490M	T	-	2	0	TRPM1	29081726	0.056000	0.20664	0.006000	0.13384	0.013000	0.08279	2.491000	0.45303	2.194000	0.70268	0.563000	0.77884	ACG		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	136	0	0	0	1	0	13	136					A	31294434	G	A	31294434	3	1	395	1	0	0	0	0	1	0	0	0	16582	1145	40	1	412	1	TRPM1	15	31294434	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		31294434	71236958	39	35210											
OR1A2	26189	broad.mit.edu	37	chr17	3101424	3101424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtacctaggggtcggCgttttctctttgccattact	10	9	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:3101424C>T	ENST00000381951.1	+	1	612	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	204					positive regulation of cytokinesis (GO:0032467)	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)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGGGGTCGGCGTTTTCTCTT	0.428																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(610-612)ggC>ggT		olfactory receptor, family 1, subfamily A, member 2							246	201	216					17																	3101424		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101424C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.612C>T	17.37:g.3101424C>T							p.G204G	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	612	+			204					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.612C>T	CCDS11021.1																																																																																				0.428	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		154	41	0	0	0	1	0	154	41					T	3101424	C	T	3101424	2	4	395	1	0	0	0	0	0	0	0	1	10950	755	27	1		1	OR1A2	17	3101424	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		3101424	78093786	40	35211											
TP53	7157	broad.mit.edu	37	chr17	7578460	7578460	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatggccatggcgcggAcgcgggtgccgggcgggggt	22	9	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:7578460A>T	ENST00000269305.4	-	5	659	c.470T>A	c.(469-471)gTc>gAc	p.V157D	TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000420246.2_Missense_Mutation_p.V157D	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (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.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(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)	CATGGCGCGGACGCGGGTGCC	0.617		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		53	Substitution - Missense(16)|Deletion - In frame(14)|Deletion - Frameshift(14)|Whole gene deletion(8)|Complex - frameshift(1)	p.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)	lung(8)|stomach(6)|oesophagus(6)|breast(5)|ovary(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|biliary_tract(1)|prostate(1)|liver(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						c.(469-471)gTc>gAc	Other conserved DNA damage response genes	tumor protein p53							51	52	51					17																	7578460		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578460A>T	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.470T>A	17.37:g.7578460A>T	ENSP00000269305:p.Val157Asp	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)				TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000269305.4_Missense_Mutation_p.V157D|TP53_ENST00000359597.4_Missense_Mutation_p.V157D	p.V157D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	602	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.470T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478345	0.63849	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99816	0.9919	M	0.86420	2.815	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	1.0;0.994;0.98;0.983;0.996;0.998;0.999	D	0.96765	0.9564	10	0.87932	D	0	-16.7152	13.8032	0.63214	1.0:0.0:0.0:0.0	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157D;ENSP00000352610:V157D;ENSP00000269305:V157D;ENSP00000398846:V157D;ENSP00000391127:V157D;ENSP00000391478:V157D;ENSP00000425104:V25D;ENSP00000423862:V64D;ENSP00000424104:V157D	ENSP00000269305:V157D	V	-	2	0	TP53	7519185	1.000000	0.71417	0.032000	0.17829	0.165000	0.22458	9.287000	0.95975	2.208000	0.71279	0.460000	0.39030	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		49	11	0	0	0	1	0	49	11					T	7578460	A	T	7578460	3	4	395	1	0	0	0	0	1	0	0	0	16378	275	10	5	828	5	TP53	17	7578460	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	4477036	7578460	73616750	41	35212											
MYH4	4622	broad.mit.edu	37	chr17	10352347	10352347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttctgcatcctgcagaCgctgggctagcttcttcctg	10	13	3	1	rs369407729		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:10352347C>T	ENST00000255381.2	-	31	4309	c.4199G>A	c.(4198-4200)cGt>cAt	p.R1400H	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	1400					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						ATCCTGCAGACGCTGGGCTAG	0.463																																						ENST00000255381.2																			0				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						c.(4198-4200)cGt>cAt		myosin, heavy chain 4, skeletal muscle		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56	52	54		4199	4.3	1	17		54	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1400/1940	10352347	1,13005	2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352347C>T		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.4199G>A	17.37:g.10352347C>T	ENSP00000255381:p.Arg1400His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1400H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			31	4309	-			1400						Missense_Mutation	SNP	ENST00000255381.2	37	c.4199G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242762	0.58995	2.27E-4	0.0	ENSG00000141048	ENST00000255381	T	0.79940	-1.32	5.25	4.28	0.50868	Myosin tail (1);	0.000000	0.38272	U	0.001755	D	0.84406	0.5465	M	0.87758	2.905	0.52501	D	0.999957	P	0.38642	0.641	B	0.41088	0.347	D	0.86805	0.1994	10	0.72032	D	0.01	.	14.4316	0.67254	0.0:0.9285:0.0:0.0715	.	1400	Q9Y623	MYH4_HUMAN	H	1400	ENSP00000255381:R1400H	ENSP00000255381:R1400H	R	-	2	0	MYH4	10293072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.948000	0.63590	1.366000	0.46076	-0.133000	0.14855	CGT		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		8	16	0	0	0	1	0	8	16					T	10352347	C	T	10352347	3	4	395	1	0	0	0	0	1	0	0	0	10037	536	19	1	1660	1	MYH4	17	10352347	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	2773887	10352347	70842863	42	35213											
KRT15	3866	broad.mit.edu	37	chr17	39673193	39673193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagcctcaacgccctggCgcagggccagctcattctca	10	16	4	0	rs200854917		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:39673193C>T	ENST00000254043.3	-	3	4190	c.605G>A	c.(604-606)cGc>cAc	p.R202H	KRT15_ENST00000393974.3_Missense_Mutation_p.R37H|KRT15_ENST00000393981.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AACGCCCTGGCGCAGGGCCAG	0.602																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(604-606)cGc>cAc		keratin 15							72	74	73					17																	39673193		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673193C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.605G>A	17.37:g.39673193C>T	ENSP00000254043:p.Arg202His					KRT15_ENST00000393974.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H|KRT15_ENST00000393981.3_Missense_Mutation_p.R37H	p.R202H	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4190	-		Breast(137;0.000286)	202			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.605G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015646	0.75161	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.86	3.86	0.44501	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95014	0.8386	M	0.84683	2.71	0.52501	D	0.999952	D;D;D	0.69078	0.973;0.982;0.997	P;P;P	0.57846	0.828;0.749;0.828	D	0.94978	0.8123	10	0.54805	T	0.06	.	13.6849	0.62511	0.0:0.9237:0.0:0.0763	.	37;202;202	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	202;37;202;37;37	ENSP00000254043:R202H;ENSP00000377544:R37H;ENSP00000377546:R202H;ENSP00000377550:R37H;ENSP00000409282:R37H	ENSP00000254043:R202H	R	-	2	0	KRT15	36926719	0.964000	0.33143	1.000000	0.80357	0.353000	0.29299	2.076000	0.41548	2.514000	0.84764	0.650000	0.86243	CGC		0.602	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		6	58	0	0	0	1	0	6	58					T	39673193	C	T	39673193	3	4	395	1	0	0	0	0	1	0	0	0	8452	768	27	1	789	1	KRT15	17	39673193	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	29320846	39673193	41522017	43	35214											
SLC4A1	6521	broad.mit.edu	37	chr17	42335371	42335371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccaggaggccgccgaagGtgatggcgggtgacagtgca	18	10	0	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:42335371G>T	ENST00000262418.6	-	11	1420	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	422	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCGCCGAAGGTGATGGCGGG	0.572																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1264-1266)aCc>aAc		solute carrier family 4 (anion exchanger), member 1							66	61	63					17																	42335371		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335371G>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1265C>A	17.37:g.42335371G>T	ENSP00000262418:p.Thr422Asn					AC003043.1_ENST00000597382.1_Intron	p.T422N	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1420	-		Breast(137;0.014)|Prostate(33;0.0181)	422			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1265C>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.672247	0.88348	.	.	ENSG00000004939	ENST00000262418	D	0.85013	-1.93	5.04	5.04	0.67666	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96097	0.9066	10	0.87932	D	0	.	17.322	0.87238	0.0:0.0:1.0:0.0	.	422;422	E2RVJ0;P02730	.;B3AT_HUMAN	N	422	ENSP00000262418:T422N	ENSP00000262418:T422N	T	-	2	0	SLC4A1	39690897	1.000000	0.71417	0.994000	0.49952	0.819000	0.46315	9.657000	0.98554	2.619000	0.88677	0.561000	0.74099	ACC		0.572	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		29	27	1	0	1.56442e-22	1	1.74847e-22	29	27					T	42335371	G	T	42335371	3	4	395	1	0	0	0	0	1	0	0	0	14650	1261	44	4	1510	4	SLC4A1	17	42335371	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	2662178	42335371	38859839	44	35215											
FECH	2235	broad.mit.edu	37	chr18	55238765	55238765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttggcgatgaatggtgCcagcttactaaatcatttaa	10	7	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr18:55238765C>T	ENST00000262093.5	-	4	473	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FECH_ENST00000382873.3_Missense_Mutation_p.A114T|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	108					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ATGAATGGTGCCAGCTTACTA	0.423																																						ENST00000262093.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(322-324)Gca>Aca		ferrochelatase							123	119	120					18																	55238765		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55238765C>T	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.322G>A	18.37:g.55238765C>T	ENSP00000262093:p.Ala108Thr					FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.A114T	p.A108T	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN			4	473	-		Colorectal(73;0.227)	108					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.322G>A	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105450	0.94245	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97328	-4.34;-4.34	5.68	4.81	0.61882	.	0.145297	0.64402	D	0.000009	D	0.98492	0.9497	H	0.97265	3.97	0.50632	D	0.999882	D;D	0.58970	0.984;0.977	P;P	0.51355	0.667;0.537	D	0.98810	1.0743	10	0.72032	D	0.01	-6.8349	14.3579	0.66750	0.0:0.9279:0.0:0.0721	.	108;114	P22830;P22830-2	HEMH_HUMAN;.	T	108;114	ENSP00000262093:A108T;ENSP00000372326:A114T	ENSP00000262093:A108T	A	-	1	0	FECH	53389763	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.628000	0.83189	1.422000	0.47177	0.561000	0.74099	GCA		0.423	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			5	63	0	0	0	1	0	5	63					T	55238765	C	T	55238765	3	4	395	1	0	0	0	0	1	0	0	0	5808	739	26	2	981	2	FECH	18	55238765	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		55238765	22838483	45	35216											
OAZ1	4946	broad.mit.edu	37	chr19	2273072	2273072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttcatggcctacacgTtcgagagagagtcttcggga	12	10	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:2273072T>C	ENST00000602676.2	+	6	731	c.652T>C	c.(652-654)Ttc>Ctc	p.F218L	OAZ1_ENST00000588673.2_Missense_Mutation_p.F247L|OAZ1_ENST00000582888.4_Missense_Mutation_p.F216L|OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000583542.4_Missense_Mutation_p.F226L			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	218					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	GGCCTACACGTTCGAGAGAGA	0.637																																						ENST00000583542.3																			0				endometrium(1)|lung(2)	3						c.(676-678)Ttc>Ctc		ornithine decarboxylase antizyme 1	L-Ornithine(DB00129)						27	29	28					19																	2273072		1892	4098	5990	SO:0001583	missense	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2273072T>C		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"antizyme 1"	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.652T>C	19.37:g.2273072T>C	ENSP00000473381:p.Phe218Leu					OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Missense_Mutation_p.F218L|OAZ1_ENST00000582888.3_Missense_Mutation_p.F216L	p.F226L			P54368	OAZ1_HUMAN		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)	6	755	+		Hepatocellular(1079;0.137)	218					O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	ENST00000602676.2	37	c.676T>C	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	T	6.128	0.391856	0.11581	.	.	ENSG00000104904	ENST00000322297	T	0.20881	2.04	4.38	0.81	0.18732	Acyl-CoA N-acyltransferase (1);	0.389211	0.31051	N	0.008351	T	0.06234	0.0161	N	0.02202	-0.64	0.31549	N	0.658923	B	0.06786	0.001	B	0.10450	0.005	T	0.38887	-0.9640	10	0.09338	T	0.73	-28.061	7.2312	0.26043	0.0:0.3242:0.0:0.6758	.	218	P54368	OAZ1_HUMAN	L	217	ENSP00000314813:F217L	ENSP00000314813:F217L	F	+	1	0	OAZ1	2224072	0.783000	0.28701	0.275000	0.24674	0.800000	0.45204	0.945000	0.29056	-0.183000	0.10585	0.402000	0.26972	TTC		0.637	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		5	5	0	0	0	1	0	5	5					C	2273072	T	C	2273072	3	2	395	1	0	0	0	0	1	0	0	0	10804	1725	60	3	671	3	OAZ1	19	2273072	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		2273072	56855911	46	35217											
HSH2D	84941	broad.mit.edu	37	chr19	16268157	16268157	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacccgccagaaactctgGaggagcctcaaaatgctccc	10	14	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:16268157G>A	ENST00000253680.6	+	8	1143	c.612G>A	c.(610-612)tgG>tgA	p.W204*	HSH2D_ENST00000593154.2_Nonsense_Mutation_p.W204*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*|HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	204					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AGAAACTCTGGAGGAGCCTCA	0.562																																						ENST00000593154.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(610-612)tgG>tgA		hematopoietic SH2 domain containing							45	53	50					19																	16268157		1852	4089	5941	SO:0001587	stop_gained	84941					cytoplasm|nucleus		g.chr19:16268157G>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.612G>A	19.37:g.16268157G>A	ENSP00000253680:p.Trp204*					HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*|HSH2D_ENST00000253680.6_Nonsense_Mutation_p.W204*|HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*	p.W204*	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN			8	1143	+			204					B5ME72|Q6ZNG7	Nonsense_Mutation	SNP	ENST00000253680.6	37	c.612G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.859928	0.98528	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	.	.	.	3.81	3.81	0.43845	.	0.233188	0.29908	N	0.010887	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.493	0.50391	0.0:0.0:1.0:0.0	.	.	.	.	X	115;204	.	ENSP00000253680:W204X	W	+	3	0	HSH2D	16129157	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.689000	0.54706	2.412000	0.81896	0.561000	0.74099	TGG		0.562	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		16	32	0	0	0	1	0	16	32					A	16268157	G	A	16268157	4	1	395	1	0	0	0	0	0	1	0	0	7400	1183	41	2	630	2	HSH2D	19	16268157	Nonsense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	13995085	16268157	42860826	47	35218											
FAM129C	199786	broad.mit.edu	37	chr19	17653073	17653073	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctggggatgcagagcctCgtgtttggggcccaagatct	14	9	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:17653073C>T	ENST00000335393.4	+	11	1530	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000449408.2_Silent_p.L190L|FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000352727.3_Silent_p.L464L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	464								p.L464L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCAGAGCCTCGTGTTTGGGG	0.627																																						ENST00000335393.4																			2	Substitution - coding silent(2)	p.L464L(2)	lung(2)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1390-1392)ctC>ctT		family with sequence similarity 129, member C							108	108	108					19																	17653073		2203	4300	6503	SO:0001819	synonymous_variant	199786							g.chr19:17653073C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1392C>T	19.37:g.17653073C>T						FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000352727.3_Silent_p.L464L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000449408.2_Silent_p.L190L	p.L464L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			11	1530	+			464					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	c.1392C>T	CCDS12362.1																																																																																				0.627	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		64	82	0	0	0	1	0	64	82					T	17653073	C	T	17653073	2	4	395	1	0	0	0	0	0	0	0	1	5438	871	31	1		1	FAM129C	19	17653073	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	1384916	17653073	41475910	48	35219											
DMPK	1760	broad.mit.edu	37	chr19	46274858	46274858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgcagcaactccatcCgctcctgcaactgccggacg	9	18	0	0	rs145245565		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:46274858C>A	ENST00000291270.4	-	12	1693	c.1568G>T	c.(1567-1569)cGg>cTg	p.R523L	DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|DMPK_ENST00000600757.1_Missense_Mutation_p.R528L|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|SIX5_ENST00000560168.1_5'Flank|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586498.1_RNA|SIX5_ENST00000317578.6_5'Flank|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	523					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAACTCCATCCGCTCCTGCAA	0.677																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1582-1584)cGg>cTg		dystrophia myotonica-protein kinase		C	LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	64	57	60		1553,1553,1598,1568	2.2	1	19	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense,missense	DMPK	NM_001081560.1,NM_001081562.1,NM_001081563.1,NM_004409.3	102,102,102,102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	518/625,518/626,533/640,523/630	46274858	1,13005	2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46274858C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1568G>T	19.37:g.46274858C>A	ENSP00000291270:p.Arg523Leu					DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L|DMPK_ENST00000291270.4_Missense_Mutation_p.R523L|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586498.1_RNA	p.R528L			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	11	2270	-		Ovarian(192;0.0308)|all_neural(266;0.112)	533					E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1583G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	14.92	2.678264	0.47886	2.27E-4	0.0	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.70164	-0.46;-0.35;-0.4;-0.36;-0.24	4.36	2.24	0.28232	Myotonic dystrophy protein kinase, coiled coil (2);	0.587686	0.14067	N	0.343684	T	0.62804	0.2458	N	0.24115	0.695	0.80722	D	1	B;P;P;P;P;P;D;P	0.58620	0.159;0.881;0.891;0.911;0.902;0.911;0.983;0.929	B;P;B;P;P;P;P;P	0.57846	0.033;0.51;0.43;0.565;0.643;0.565;0.828;0.665	T	0.60530	-0.7245	10	0.72032	D	0.01	.	6.5825	0.22602	0.0:0.7817:0.0:0.2183	.	518;523;549;518;518;523;565;533	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	L	518;549;523;518;518;533;533;518	ENSP00000401753:R518L;ENSP00000291270:R523L;ENSP00000413417:R518L;ENSP00000345997:R533L;ENSP00000346168:R518L	ENSP00000291270:R523L	R	-	2	0	DMPK	50966698	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	0.757000	0.26433	0.484000	0.27630	-0.339000	0.08088	CGG		0.677	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		7	21	1	0	2.0095e-06	1	2.12114e-06	7	21					A	46274858	C	A	46274858	3	1	395	1	0	0	0	0	1	0	0	0	4584	652	23	4	344	4	DMPK	19	46274858	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	28621785	46274858	12854125	49	35220											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961277	51961277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctagccgaaagaaaTatgaccccttatccctcttc	4	15	3	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:51961277T>C	ENST00000321424.3	-	1	431	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	122	Ig-like V-type.				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)		CCGAAAGAAATATGACCCCTT	0.498																																						ENST00000321424.3																			0				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						c.(364-366)tAt>tGt		sialic acid binding Ig-like lectin 8							137	135	136					19																	51961277		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961277T>C	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.365A>G	19.37:g.51961277T>C	ENSP00000321077:p.Tyr122Cys					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C	p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	431	-		all_neural(266;0.0199)	122			Ig-like V-type.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.365A>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797719	0.31777	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	D;D;D	0.94497	-3.44;-3.44;-3.44	2.56	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.221905	0.22873	N	0.054619	D	0.97263	0.9105	H	0.95043	3.615	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.967;0.999;0.998	D	0.91247	0.5026	10	0.87932	D	0	.	4.5807	0.12257	0.2872:0.0:0.0:0.7128	.	122;122;122	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	122	ENSP00000389142:Y122C;ENSP00000321077:Y122C;ENSP00000339448:Y122C	ENSP00000321077:Y122C	Y	-	2	0	SIGLEC8	56653089	0.167000	0.22975	0.005000	0.12908	0.142000	0.21351	1.820000	0.39032	0.176000	0.19873	0.327000	0.21459	TAT		0.498	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		55	27	0	0	0	1	0	55	27					C	51961277	T	C	51961277	3	2	395	1	0	0	0	0	1	0	0	0	14314	1406	49	3	1162	3	SIGLEC8	19	51961277	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	5686419	51961277	7167706	50	35221											
ZNF761	388561	broad.mit.edu	37	chr19	53958524	53958524	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagctctttaatcagaagCgaaacctagcatgccatcgt	8	11	2	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:53958524C>T	ENST00000454407.1	+	0	1216							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)		TAATCAGAAGCGAAACCTAGC	0.408																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							151	142	145					19																	53958524		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958524C>T	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.53958524C>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1216	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		50	31	0	0	0	1	0	50	31					T	53958524	C	T	53958524	1	4	395	0	1	0	0	0	0	0	0	0	18133	760	27	1		1	ZNF761	19	53958524	RNA	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	1997247	53958524	5170459	51	35222											
CABIN1	23523	broad.mit.edu	37	chr22	24466846	24466846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggtgaactcaggtgaGgctgccgccaaggaggagtg	17	8	1	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24466846G>A	ENST00000398319.2	+	17	2713	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CABIN1_ENST00000405822.2_Silent_p.E726E|CABIN1_ENST00000263119.5_Silent_p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	776					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTCAGGTGAGGCTGCCGCCA	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2326-2328)gaG>gaA		calcineurin binding protein 1							102	90	94					22																	24466846		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24466846G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2328G>A	22.37:g.24466846G>A						CABIN1_ENST00000263119.5_Silent_p.E776E|CABIN1_ENST00000405822.2_Silent_p.E726E	p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			17	2713	+			776					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2328G>A	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		3	31	0	0	0	1	0	3	31					A	24466846	G	A	24466846	2	1	395	1	0	0	0	0	0	0	0	1	2528	991	35	2		2	CABIN1	22	24466846	Silent	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		24466846	26837720	52	35223											
GGT5	2687	broad.mit.edu	37	chr22	24621346	24621346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaactgggggccagcacCttccgggagctccacccacc	12	17	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24621346C>A	ENST00000327365.4	-	10	1786	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	GGT5_ENST00000398292.3_Missense_Mutation_p.R458M|GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000418439.2_Missense_Mutation_p.R381M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	457					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|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(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGCCAGCACCTTCCGGGAGC	0.617																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1369-1371)aGg>aTg		gamma-glutamyltransferase 5							69	67	68					22																	24621346		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621346C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1370G>T	22.37:g.24621346C>A	ENSP00000330080:p.Arg457Met					GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000398292.3_Missense_Mutation_p.R458M|GGT5_ENST00000418439.2_Missense_Mutation_p.R381M	p.R457M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			10	1786	-			457					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1370G>T	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.578|9.578	1.122783|1.122783	0.20959|0.20959	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000425408|ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.|T;T;T;T	.|0.22134	.|1.97;1.97;1.97;1.97	2.25|2.25	2.25|2.25	0.28309|0.28309	.|.	.|.	.|.	.|.	.|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32040	.|0.353;0.044;0.302;0.302;0.302	.|B;B;B;B;B	.|0.37015	.|0.239;0.038;0.094;0.094;0.094	T|T	0.22382|0.22382	-1.0218|-1.0218	5|9	.|0.59425	.|D	.|0.04	.|.	8.1103|8.1103	0.30911|0.30911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|381;425;457;458;457	.|E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.|.;.;.;.;GGT5_HUMAN	C|M	60|457;425;372;458;381	.|ENSP00000330080:R457M;ENSP00000263112:R425M;ENSP00000381340:R458M;ENSP00000392146:R381M	.|ENSP00000263112:R425M	G|R	-|-	1|2	0|0	GGT5|GGT5	22951346|22951346	0.005000|0.005000	0.15991|0.15991	0.012000|0.012000	0.15200|0.15200	0.009000|0.009000	0.06853|0.06853	0.275000|0.275000	0.18698|0.18698	1.564000|1.564000	0.49628|0.49628	0.555000|0.555000	0.69702|0.69702	GGT|AGG		0.617	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		36	47	1	0	3.76114e-14	1	4.1427e-14	36	47					A	24621346	C	A	24621346	3	1	395	1	0	0	0	0	1	0	0	0	6362	681	24	4	402	4	GGT5	22	24621346	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	154500	24621346	26683220	53	35224											
ADSL	158	broad.mit.edu	37	chr22	40761013	40761013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccattcactcccagttgGatcatttactggatccttct	6	13	3	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:40761013G>A	ENST00000216194.7	+	12	1377	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	ADSL_ENST00000454266.2_Missense_Mutation_p.D455N|ADSL_ENST00000342312.6_Intron	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	441					'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						CTCCCAGTTGGATCATTTACT	0.517																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(1321-1323)Gat>Aat		adenylosuccinate lyase							237	187	204					22																	40761013		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40761013G>A	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.1321G>A	22.37:g.40761013G>A	ENSP00000216194:p.Asp441Asn					ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.D455N	p.D441N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			12	1377	+			441					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.1321G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121684	0.56613	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028	D;D	0.96073	-3.9;-3.9	5.67	4.65	0.58169	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.245141	0.47093	D	0.000246	D	0.94771	0.8312	M	0.72576	2.205	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.26693	0.072;0.012;0.012	D	0.92402	0.5930	10	0.35671	T	0.21	-10.8058	16.607	0.84832	0.0:0.1304:0.8696:0.0	.	455;441;441	E7ERF4;Q71UA4;P30566	.;.;PUR8_HUMAN	N	441;455;261	ENSP00000216194:D441N;ENSP00000390107:D455N	ENSP00000216194:D441N	D	+	1	0	ADSL	39090959	1.000000	0.71417	0.981000	0.43875	0.708000	0.40852	6.949000	0.75971	1.385000	0.46445	0.563000	0.77884	GAT		0.517	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		5	83	0	0	0	1	0	5	83					A	40761013	G	A	40761013	3	1	395	1	0	0	0	0	1	0	0	0	346	1174	41	2	1367	2	ADSL	22	40761013	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	16139667	40761013	10543553	54	35225											
PTCHD1	139411	broad.mit.edu	37	chrX	23410783	23410783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccactgccatgtaccTggtcacctttggcatagggg	10	13	2	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:23410783T>C	ENST00000379361.4	+	3	2008	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	383	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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						GCCATGTACCTGGTCACCTTT	0.473																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1147-1149)cTg>cCg		patched domain containing 1							121	101	108					X																	23410783		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23410783T>C	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.1148T>C	X.37:g.23410783T>C	ENSP00000368666:p.Leu383Pro						p.L383P	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2008	+			383			SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1148T>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013060	0.54468	.	.	ENSG00000165186	ENST00000379361	D	0.91996	-2.95	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.083348	0.50627	D	0.000107	D	0.92453	0.7604	L	0.29908	0.895	0.80722	D	1	P	0.44521	0.837	P	0.59115	0.852	D	0.92916	0.6351	10	0.52906	T	0.07	.	14.5355	0.67958	0.0:0.0:0.0:1.0	.	383	Q96NR3	PTHD1_HUMAN	P	383	ENSP00000368666:L383P	ENSP00000368666:L383P	L	+	2	0	PTCHD1	23320704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	1.881000	0.54492	0.486000	0.48141	CTG		0.473	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		28	51	0	0	0	1	0	28	51					C	23410783	T	C	23410783	3	2	395	1	0	0	0	0	1	0	0	0	12732	1580	55	3	1158	3	PTCHD1	23	23410783	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		23410783	131859777	55	35226											
NYX	60506	broad.mit.edu	37	chrX	41333727	41333727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgcaacccgtggtgctgcGactgccgtctggagtggctg	15	13	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:41333727G>A	ENST00000342595.2	+	2	1477	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	NYX_ENST00000378220.1_Missense_Mutation_p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	341	LRRCT.				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						GTGGTGCTGCGACTGCCGTCT	0.706																																						ENST00000342595.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(1021-1023)Gac>Aac		nyctalopin							29	27	27					X																	41333727		2201	4297	6498	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333727G>A	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.1021G>A	X.37:g.41333727G>A	ENSP00000340328:p.Asp341Asn					NYX_ENST00000378220.1_Missense_Mutation_p.D341N	p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1477	+			341			LRRCT.		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.1021G>A	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685465	0.88639	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.80738	-1.41;-1.41	5.34	5.34	0.76211	Cysteine-rich flanking region, C-terminal (1);	0.104372	0.64402	D	0.000005	D	0.88511	0.6456	M	0.70275	2.135	0.43936	D	0.996593	D	0.89917	1.0	D	0.66602	0.945	D	0.88171	0.2864	10	0.42905	T	0.14	.	18.2076	0.89859	0.0:0.0:1.0:0.0	.	341	Q9GZU5	NYX_HUMAN	N	341	ENSP00000340328:D341N;ENSP00000367465:D341N	ENSP00000340328:D341N	D	+	1	0	NYX	41218671	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.494000	0.81503	2.238000	0.73509	0.600000	0.82982	GAC		0.706	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		10	17	0	0	0	1	0	10	17					A	41333727	G	A	41333727	3	1	395	1	0	0	0	0	1	0	0	0	10797	1058	37	1	1027	1	NYX	23	41333727	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	17922944	41333727	113936833	56	35227											
ATRX	546	broad.mit.edu	37	chrX	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T													ttcattttgttttccagttcINStttttttcccttcttctggc							TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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						TTTTCCAGTTCTTTTTTTCCCT	0.376			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(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						c.(3904-3906)aacfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920172_76920173insT	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.3905dupA	X.37:g.76920179_76920179dupT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs	p.N1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118_4119	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3904_3905insA	CCDS14434.1																																																																																				0.376	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		45	29						45	29	---	---	---	---	T	76920173	-	T	76920172	7	5	395	1	0	1	1	0	0	0	0	0	1208	913	32	0	3673	0	ATRX	23	76920172	Frame_Shift_Ins	INS	-	TCGA-QH-A6X9-01A-12D-A32B-08	35586445	76920172	78350388	57	35228											
BCORL1	63035	broad.mit.edu	37	chrX	129189971	129189971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcctccagtcagctgCtgacccctgccgagaggcct	13	15	1	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:129189971C>T	ENST00000218147.7	+	13	5193	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	BCORL1_ENST00000359304.2_Silent_p.L1536L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000540052.1_Silent_p.L1666L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1666					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						CAGTCAGCTGCTGACCCCTGC	0.617																																						ENST00000540052.1																			0				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						c.(4996-4998)Ctg>Ttg		BCL6 corepressor-like 1							65	65	65					X																	129189971		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129189971C>T	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.4996C>T	X.37:g.129189971C>T						BCORL1_ENST00000218147.7_Silent_p.L1666L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000359304.2_Silent_p.L1536L	p.L1666L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5040	+			1666					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4996C>T	CCDS14616.1																																																																																				0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		53	88	0	0	0	1	0	53	88					T	129189971	C	T	129189971	2	4	395	1	0	0	0	0	0	0	0	1	1387	796	28	2		2	BCORL1	23	129189971	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	52269799	129189971	26080589	58	35229											
MAGEC1	9947	broad.mit.edu	37	chrX	140993967	140993967	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagaactcagagtacTtttgagggttttgcccagtc	11	8	2	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:140993967T>A	ENST00000285879.4	+	4	1063	c.777T>A	c.(775-777)acT>acA	p.T259T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	259										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGTACTTTTGAGGGTT	0.502										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(775-777)acT>acA		melanoma antigen family C, 1							74	56	62					X																	140993967		2023	3698	5721	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140993967T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.777T>A	X.37:g.140993967T>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.T259T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1063	+	Acute lymphoblastic leukemia(192;6.56e-05)		259					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.777T>A	CCDS35417.1																																																																																				0.502	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		75	24	0	0	0	1	0	75	24					A	140993967	T	A	140993967	2	1	395	1	0	0	0	0	0	0	0	1	9180	1596	56	5		5	MAGEC1	23	140993967	Silent	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	11803996	140993967	14276593	59	35230											
LAGE3	8270	broad.mit.edu	37	chrX	153707094	153707094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggccgcattcgtgaccccCtggccgcagacgcggcgtct	14	17	1	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:153707094C>A	ENST00000357360.4	-	1	502	c.161G>T	c.(160-162)aGg>aTg	p.R54M	LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	54					tRNA processing (GO:0008033)	nucleus (GO:0005634)				lung(2)	2	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)					TCGTGACCCCCTGGCCGCAGA	0.721																																						ENST00000357360.4																			0				lung(2)	2						c.(160-162)aGg>aTg		L antigen family, member 3							7	8	8					X																	153707094		2082	4084	6166	SO:0001583	missense	8270						protein binding	g.chrX:153707094C>A	X92896	CCDS14753.1	Xq28	2011-08-12			ENSG00000196976	ENSG00000196976			26058	protein-coding gene	gene with protein product	"DNA segment on chromosome X (unique) 9879 expressed sequence"	300060				8786131	Standard	NM_006014		Approved	ITBA2, CVG5, DXS9951E, DXS9879E, ESO3	uc004fln.1	Q14657	OTTHUMG00000033294	ENST00000357360.4:c.161G>T	X.37:g.153707094C>A	ENSP00000349923:p.Arg54Met					LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	p.R54M	NM_006014.3	NP_006005.2	Q14657	LAGE3_HUMAN			1	502	-	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)		54					Q5HY39|Q8IZ78	Missense_Mutation	SNP	ENST00000357360.4	37	c.161G>T	CCDS14753.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917411	0.52546	.	.	ENSG00000196976	ENST00000407062;ENST00000357360	.	.	.	3.94	-2.37	0.06643	.	4.125040	0.01172	U	0.006881	T	0.34279	0.0892	L	0.55481	1.735	0.09310	N	1	P	0.52316	0.952	B	0.42692	0.395	T	0.38607	-0.9653	9	0.48119	T	0.1	1.7698	5.4708	0.16668	0.0:0.2744:0.4538:0.2718	.	54	Q14657	LAGE3_HUMAN	M	54	.	ENSP00000349923:R54M	R	-	2	0	LAGE3	153360288	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.191000	0.03055	-0.649000	0.05430	0.468000	0.43344	AGG		0.721	LAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081651.2	NM_006014		3	12	1	0	0.115264	1	0.116801	3	12					A	153707094	C	A	153707094	3	1	395	1	0	0	0	0	1	0	0	0	8601	681	24	4	282	4	LAGE3	23	153707094	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	12713127	153707094	1563466	60	35231											
IL22RA1	58985	broad.mit.edu	37	chr1	24447579	24447579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcctccccactgtgtaGcacatttgggtcagatgttc	8	14	1	1			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:24447579G>A	ENST00000270800.1	-	7	1479	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	481					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)		CCACTGTGTAGCACATTTGGG	0.567																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1441-1443)Cta>Tta		interleukin 22 receptor, alpha 1							155	133	141					1																	24447579		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24447579G>A	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.1441C>T	1.37:g.24447579G>A							p.L481L	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		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)	7	1479	-		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)	481					A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.1441C>T	CCDS247.1																																																																																				0.567	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			25	50	0	0	0	1	0	25	50					A	24447579	G	A	24447579	2	1	396	1	0	0	0	0	0	0	0	1	7673	962	34	2		2	IL22RA1	1	24447579	Silent	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		24447579	224803042	1	35232											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	25	0	0	0	1	0	15	25					T	209113112	C	T	209113112	3	4	396	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		209113112	34086261	2	35233											
NT5DC2	64943	broad.mit.edu	37	chr3	52563192	52563192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcgatcaggatgtcacGggcggtactgaagatctcgg	15	9	3	2	rs573448959		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr3:52563192G>A	ENST00000307076.4	-	2	680	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C|NT5DC2_ENST00000490681.1_5'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	94							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGGATGTCACGGGCGGTACTG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.001					ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(280-282)Cgt>Tgt		5'-nucleotidase domain containing 2							219	172	188					3																	52563192		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52563192G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.280C>T	3.37:g.52563192G>A	ENSP00000302468:p.Arg94Cys					NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C	p.R94C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	2	680	-			94					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.280C>T	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.783393|3.783393	0.70222|0.70222	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000489316|ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839	.|T;T;T;T	.|0.23348	.|1.91;1.91;1.91;1.91	5.41|5.41	4.46|4.46	0.54185|0.54185	.|HAD-like domain (1);	.|0.049705	.|0.85682	.|D	.|0.000000	T|T	0.52645|0.52645	0.1747|0.1747	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.905;0.905	.|D;B;B	.|0.74023	.|0.982;0.33;0.33	T|T	0.58031|0.58031	-0.7708|-0.7708	5|10	.|0.62326	.|D	.|0.03	-17.9696|-17.9696	10.8889|10.8889	0.46984|0.46984	0.0:0.0:0.5795:0.4205|0.0:0.0:0.5795:0.4205	.|.	.|131;94;131	.|C9JTZ6;Q9H857;E9PAL9	.|.;NT5D2_HUMAN;.	L|C	62|60;94;131;131	.|ENSP00000306017:R60C;ENSP00000302468:R94C;ENSP00000406933:R131C;ENSP00000419547:R131C	.|ENSP00000302468:R94C	P|R	-|-	2|1	0|0	NT5DC2|NT5DC2	52538232|52538232	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.783000|0.783000	0.44284|0.44284	3.566000|3.566000	0.53805|0.53805	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	CCG|CGT		0.597	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		8	24	0	0	0	1	0	8	24					A	52563192	G	A	52563192	3	1	396	1	0	0	0	0	1	0	0	0	10691	1116	39	1	1334	1	NT5DC2	3	52563192	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		52563192	145459238	3	35234											
TTC37	9652	broad.mit.edu	37	chr5	94834107	94834107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatatttgtttttgcacaGccacactgcggccttggagt	10	9	0	1			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr5:94834107G>A	ENST00000358746.2	-	33	3828	c.3530C>T	c.(3529-3531)gCt>gTt	p.A1177V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1177						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTTGCACAGCCACACTGCG	0.393																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3529-3531)gCt>gTt		tetratricopeptide repeat domain 37							179	173	175					5																	94834107		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94834107G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3530C>T	5.37:g.94834107G>A	ENSP00000351596:p.Ala1177Val						p.A1177V	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			33	3828	-			1177					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3530C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708012	0.48412	.	.	ENSG00000198677	ENST00000358746	T	0.38887	1.11	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);	0.104106	0.64402	D	0.000004	T	0.38878	0.1057	L	0.50333	1.59	0.34688	D	0.725467	P	0.41041	0.736	B	0.36378	0.223	T	0.52518	-0.8565	10	0.36615	T	0.2	.	17.1314	0.86727	0.0:0.1261:0.8739:0.0	.	1177	Q6PGP7	TTC37_HUMAN	V	1177	ENSP00000351596:A1177V	ENSP00000351596:A1177V	A	-	2	0	TTC37	94859863	0.989000	0.36119	0.877000	0.34402	0.013000	0.08279	1.924000	0.40065	2.768000	0.95171	0.655000	0.94253	GCT		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		13	107	0	0	0	1	0	13	107					A	94834107	G	A	94834107	3	1	396	1	0	0	0	0	1	0	0	0	16702	971	34	2	1208	2	TTC37	5	94834107	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		94834107	86081153	4	35235											
AVL9	23080	broad.mit.edu	37	chr7	32582854	32582854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttgccttaccagatggCgcacacaactaccaggaagg	9	13	0	1	rs367575541		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000409301.1_Silent_p.G65G|AVL9_ENST00000404479.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423																																						ENST00000318709.4																			2	Substitution - coding silent(2)	p.G65G(2)	endometrium(2)	endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(193-195)ggC>ggT		AVL9 homolog (S. cerevisiase)		C		0,4406		0,0,2203	174	143	154		195	-5.2	1	7		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AVL9	NM_015060.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		65/649	32582854	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32582854C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.195C>T	7.37:g.32582854C>T						AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G	p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			2	416	+			65					Q92573	Silent	SNP	ENST00000318709.4	37	c.195C>T	CCDS34613.1																																																																																				0.423	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		4	110	0	0	0	1	0	4	110					T	32582854	C	T	32582854	2	4	396	1	0	0	0	0	0	0	0	1	1228	755	27	1		1	AVL9	7	32582854	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		32582854	126555809	5	35236											
UNC5D	137970	broad.mit.edu	37	chr8	35563469	35563469	+	Frame_Shift_Del	DEL	A	A	-													aaaaaacctcttcatgaaatAaaaccccaaagtaagttatt					rs199507327		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:35563469delA	ENST00000404895.2	+	8	1435	c.1107delA	c.(1105-1107)atafs	p.I369fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.I313fs|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	369					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)		TTCATGAAATAAAACCCCAAA	0.289																																						ENST00000287272.2																			0				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						c.(937-939)atfs		unc-5 homolog D (C. elegans)							46	45	46					8																	35563469		2200	4297	6497	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35563469delA	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.1107delA	8.37:g.35563469delA	ENSP00000385143:p.Ile369fs					UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.I369fs	p.I313fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	7	959	+			369			TSP type-1 2.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.939delA	CCDS6093.2																																																																																				0.289	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			2	4						2	4	---	---	---	---	-	35563469	A	-	35563469	7	5	396	1	0	1	0	1	0	0	0	0	16992	352	13	0	1137	0	UNC5D	8	35563469	Frame_Shift_Del	DEL	A	TCGA-QH-A6XA-01A-12D-A32B-08		35563469	110800553	6	35237											
POLB	5423	broad.mit.edu	37	chr8	42214719	42214719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaaaaagaattcctcGtgaagagatgttacaaatgc	8	6	0	4	rs368102815		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:42214719G>A	ENST00000265421.4	+	8	625	c.455G>A	c.(454-456)cGt>cAt	p.R152H	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	152					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	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;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGAATTCCTCGTGAAGAGATG	0.299								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(454-456)cGt>cAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	64	70	68		455	5.1	1	8		68	0,8594		0,0,4297	no	missense	POLB	NM_002690.2	29	0,4,6496	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	152/336	42214719	4,12996	2203	4297	6500	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42214719G>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.455G>A	8.37:g.42214719G>A	ENSP00000265421:p.Arg152His					POLB_ENST00000538005.1_5'UTR	p.R152H	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	625	+	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;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	152					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.455G>A	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.775411|4.775411	0.90108|0.90108	9.08E-4|9.08E-4	0.0|0.0	ENSG00000070501|ENSG00000070501	ENST00000532157;ENST00000265421;ENST00000518925|ENST00000518579	T;T|.	0.50001|.	0.76;0.76|.	5.93|5.93	5.05|5.05	0.67936|0.67936	DNA-directed DNA polymerase X (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79782|0.79782	0.4505|0.4505	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.91635|.	0.704;0.999|.	T|T	0.83097|0.83097	-0.0130|-0.0130	10|5	0.87932|.	D|.	0|.	2.3915|2.3915	14.3061|14.3061	0.66386|0.66386	0.0:0.0:0.8503:0.1497|0.0:0.0:0.8503:0.1497	.|.	152;152|.	Q53EV2;P06746|.	.;DPOLB_HUMAN|.	H|M	38;152;187|10	ENSP00000265421:R152H;ENSP00000430784:R187H|.	ENSP00000265421:R152H|.	R|V	+|+	2|1	0|0	POLB|POLB	42333876|42333876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.958000|6.958000	0.76025|0.76025	1.496000|1.496000	0.48567|0.48567	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.299	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		18	26	0	0	0	1	0	18	26					A	42214719	G	A	42214719	3	1	396	1	0	0	0	0	1	0	0	0	12189	1145	40	1	485	1	POLB	8	42214719	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08	6651250	42214719	104149303	7	35238											
OBP2A	29991	broad.mit.edu	37	chr9	138441168	138441168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcaggaagctgcgttctcGaacactagggtgagtgagcc	14	10	1	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr9:138441168G>A	ENST00000539850.1	+	6	531	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	169					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCGTTCTCGAACACTAGGG	0.612																																						ENST00000539850.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(505-507)Gaa>Aaa		odorant binding protein 2A							101	114	110					9																	138441168		2049	4237	6286	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138441168G>A	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.505G>A	9.37:g.138441168G>A	ENSP00000441028:p.Glu169Lys					OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K	p.E169K			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	6	531	+			169					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.505G>A	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.843326	0.32606	.	.	ENSG00000122136	ENST00000342114;ENST00000371776;ENST00000539850	T;T;T	0.20200	2.09;2.33;2.33	1.66	-0.457	0.12186	.	.	.	.	.	T	0.20780	0.0500	M	0.81497	2.545	0.09310	N	1	D;P	0.58970	0.984;0.487	B;B	0.39876	0.312;0.034	T	0.22591	-1.0212	9	0.87932	D	0	0.0361	2.8728	0.05621	0.2011:0.2988:0.5:0.0	.	146;169	Q5T8A4;Q9NY56	.;OBP2A_HUMAN	K	146;169;169	ENSP00000340950:E146K;ENSP00000360841:E169K;ENSP00000441028:E169K	ENSP00000340950:E146K	E	+	1	0	OBP2A	137580989	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.209000	0.03002	-0.109000	0.12044	0.299000	0.19835	GAA		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		11	51	0	0	0	1	0	11	51					A	138441168	G	A	138441168	3	1	396	1	0	0	0	0	1	0	0	0	10810	1059	37	1	527	1	OBP2A	9	138441168	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		138441168	2772263	8	35239											
LRP5	4041	broad.mit.edu	37	chr11	68177463	68177463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaccccgagggcatggccGttgactggatgggcaagaac	14	11	0	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr11:68177463G>A	ENST00000294304.7	+	10	2279	c.2173G>A	c.(2173-2175)Gtt>Att	p.V725I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	725	Beta-propeller 3.				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						GGGCATGGCCGTTGACTGGAT	0.632																																						ENST00000294304.7																			0				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						c.(2173-2175)Gtt>Att		low density lipoprotein receptor-related protein 5							120	105	110					11																	68177463		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68177463G>A	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.2173G>A	11.37:g.68177463G>A	ENSP00000294304:p.Val725Ile						p.V725I	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			10	2279	+			725			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2173G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544026	0.86022	.	.	ENSG00000162337	ENST00000294304	D	0.97161	-4.27	4.41	4.41	0.53225	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43579	U	0.000543	D	0.97617	0.9219	L	0.49455	1.56	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.97672	1.0167	10	0.46703	T	0.11	.	17.6349	0.88119	0.0:0.0:1.0:0.0	.	725;725	Q9UES7;O75197	.;LRP5_HUMAN	I	725	ENSP00000294304:V725I	ENSP00000294304:V725I	V	+	1	0	LRP5	67934039	1.000000	0.71417	0.336000	0.25522	0.826000	0.46750	9.415000	0.97375	2.467000	0.83353	0.555000	0.69702	GTT		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	62	0	0	0	1	0	3	62					A	68177463	G	A	68177463	3	1	396	1	0	0	0	0	1	0	0	0	8960	1145	40	1	2211	1	LRP5	11	68177463	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		68177463	66829053	9	35240											
TSPAN8	7103	broad.mit.edu	37	chr12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcactttcccctgtggCgctcaaaagctttgtgtttt	7	10	2	0	rs148575105		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:71531789C>T	ENST00000393330.2	-	9	940	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T|TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000552786.1_5'Flank			P19075	TSN8_HUMAN	tetraspanin 8	130					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)			TCCCCTGTGGCGCTCAAAAGC	0.343																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(388-390)Gcc>Acc		tetraspanin 8		C	THR/ALA	0,4406		0,0,2203	162	157	158		388	-11.4	0	12	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSPAN8	NM_004616.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	130/238	71531789	1,13005	2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71531789C>T	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.388G>A	12.37:g.71531789C>T	ENSP00000377003:p.Ala130Thr					TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T	p.A130T			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		9	940	-			130					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.388G>A	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	3.715	-0.058669	0.07317	0.0	1.16E-4	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.71	-11.4	0.00090	Tetraspanin, EC2 domain (1);	3.362960	0.00769	N	0.001189	T	0.39489	0.1080	N	0.02247	-0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.50162	-0.8860	10	0.06891	T	0.86	.	0.145	0.00087	0.3369:0.1724:0.2039:0.2869	.	130	P19075	TSN8_HUMAN	T	130;130;130;47	ENSP00000377003:A130T;ENSP00000247829:A130T;ENSP00000447160:A130T;ENSP00000449820:A47T	ENSP00000247829:A130T	A	-	1	0	TSPAN8	69818056	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.992000	0.00318	-3.010000	0.00273	-2.277000	0.00273	GCC		0.343	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		36	53	0	0	0	1	0	36	53					T	71531789	C	T	71531789	3	4	396	1	0	0	0	0	1	0	0	0	16650	768	27	1	341	1	TSPAN8	12	71531789	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		71531789	62320106	10	35241											
SPPL3	121665	broad.mit.edu	37	chr12	121221497	121221497	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgaggtgagcagggTcttgttaaatactggcacat	12	6	2	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:121221497T>C	ENST00000353487.2	-	5	872	c.369A>G	c.(367-369)agA>agG	p.R123R		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	124						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAGCAGGGTCTTGTTAAAT	0.323																																						ENST00000353487.2																			0											c.(367-369)agA>agG		signal peptide peptidase like 3							77	79	78					12																	121221497		2203	4300	6503	SO:0001819	synonymous_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121221497T>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.369A>G	12.37:g.121221497T>C							p.R123R	NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN			5	872	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		124					Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	ENST00000353487.2	37	c.369A>G	CCDS9208.1																																																																																				0.323	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		8	27	0	0	0	1	0	8	27					C	121221497	T	C	121221497	2	2	396	1	0	0	0	0	0	0	0	1	15089	1664	58	3		3	SPPL3	12	121221497	Silent	SNP	T	TCGA-QH-A6XA-01A-12D-A32B-08	49689708	121221497	12630398	11	35242											
C14orf43	91748	broad.mit.edu	37	chr14	74196470	74196470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggctgaggatggggggCggcgtgtagggaggtagctc	22	6	0	1	rs149124754		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr14:74196470C>T	ENST00000286523.5	-	4	2750	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	ELMSAN1_ENST00000394071.2_Silent_p.P656P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P656P(1)									GGATGGGGGGCGGCGTGTAGG	0.612																																						ENST00000286523.5																			1	Substitution - coding silent(1)	p.P656P(1)	lung(1)								c.(1966-1968)ccG>ccA		ELM2 and Myb/SANT-like domain containing 1		C	,	0,4406		0,0,2203	68	62	64		1968,1968	-4.1	1	14	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	656/1046,656/1046	74196470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91748							g.chr14:74196470C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1968G>A	14.37:g.74196470C>T						ELMSAN1_ENST00000394071.2_Silent_p.P656P	p.P656P	NM_194278.3	NP_919254.2					4	2750	-								Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.1968G>A	CCDS9819.1																																																																																				0.612	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		4	31	0	0	0	1	0	4	31					T	74196470	C	T	74196470	2	4	396	1	0	0	0	0	0	0	0	1	1774	755	27	1		1	C14orf43	14	74196470	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		74196470	33153070	12	35243											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	5	0	0	0	1	0	17	5					A	7577121	G	A	7577121	3	1	396	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		7577121	73618089	13	35244											
C1QTNF1	114897	broad.mit.edu	37	chr17	77042695	77042695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggggctccctgcttccCggtgcttgcgctgctgtgac	13	15	0	1	rs566478936		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:77042695C>T	ENST00000339142.2	+	4	769	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W|C1QTNF1_ENST00000578229.1_5'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	72					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)			CCCTGCTTCCCGGTGCTTGCG	0.552											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0.0	0.0014	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.0					ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(214-216)Cgg>Tgg		C1q and tumor necrosis factor related protein 1							81	80	81					17																	77042695		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77042695C>T	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.214C>T	17.37:g.77042695C>T	ENSP00000340864:p.Arg72Trp		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W	p.R72W	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	769	+			72					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.214C>T	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	c	15.13	2.742756	0.49151	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.77098	-1.06;-1.07	4.21	-0.947	0.10382	.	0.894126	0.09311	N	0.819559	T	0.64360	0.2591	L	0.27053	0.805	0.09310	N	1	P;P;P	0.52170	0.951;0.951;0.843	B;B;B	0.42653	0.394;0.28;0.28	T	0.57207	-0.7851	10	0.66056	D	0.02	.	8.0032	0.30310	0.4121:0.3508:0.2371:0.0	.	82;82;72	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	W	72;82;72;82	ENSP00000340864:R72W;ENSP00000343230:R82W	ENSP00000340864:R72W	R	+	1	2	C1QTNF1	74554290	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.167000	0.09940	0.069000	0.16605	0.556000	0.70494	CGG		0.552	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		29	70	0	0	0	1	0	29	70					T	77042695	C	T	77042695	3	4	396	1	0	0	0	0	1	0	0	0	1962	643	23	1	220	1	C1QTNF1	17	77042695	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08	69465574	77042695	4152515	14	35245											
JPH2	57158	broad.mit.edu	37	chr20	42788536	42788536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagcccgagcgtttgtcGttcttccactcgcccatgta	9	15	1	0			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:42788536G>A	ENST00000372980.3	-	2	1763	c.891C>T	c.(889-891)aaC>aaT	p.N297N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	297					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)			AGCGTTTGTCGTTCTTCCACT	0.687																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(889-891)aaC>aaT		junctophilin 2							59	52	55					20																	42788536		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788536G>A	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.891C>T	20.37:g.42788536G>A							p.N297N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1763	-		Myeloproliferative disorder(115;0.0122)	297					E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.891C>T	CCDS13325.1																																																																																				0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			5	10	0	0	0	1	0	5	10					A	42788536	G	A	42788536	2	1	396	1	0	0	0	0	0	0	0	1	7961	1136	40	1		1	JPH2	20	42788536	Silent	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		42788536	20236984	15	35246											
BCOR	54880	broad.mit.edu	37	chrX	39933591	39933591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcggggtgacggccgaggCgaggggggcaacaggagagc	21	9	0	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:39933591C>T	ENST00000378444.4	-	4	1236	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	BCOR_ENST00000397354.3_Silent_p.S336S|BCOR_ENST00000378455.4_Silent_p.S336S|BCOR_ENST00000342274.4_Silent_p.S336S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	336					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						ACGGCCGAGGCGAGGGGGGCA	0.632			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(1006-1008)tcG>tcA		BCL6 corepressor							35	29	31					X																	39933591		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933591C>T	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.1008G>A	X.37:g.39933591C>T						BCOR_ENST00000378455.4_Silent_p.S336S|BCOR_ENST00000378444.4_Silent_p.S336S|BCOR_ENST00000397354.3_Silent_p.S336S	p.S336S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1370	-			336					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1008G>A	CCDS48093.1																																																																																				0.632	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	26	0	0	0	1	0	3	26					T	39933591	C	T	39933591	2	4	396	1	0	0	0	0	0	0	0	1	1386	755	27	1		1	BCOR	23	39933591	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		39933591	115336969	16	35247											
ATRX	546	broad.mit.edu	37	chrX	76938114	76938114	+	Frame_Shift_Del	DEL	A	A	-													ctctcttgttttctttcagcAtcatcagatgatccttcttg							TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:76938114delA	ENST00000373344.5	-	9	2848	c.2634delT	c.(2632-2634)gatfs	p.D878fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	878					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						TTCTTTCAGCATCATCAGATG	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2632-2634)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						255	254	254					X																	76938114		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938114delA	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.2634delT	X.37:g.76938114delA	ENSP00000362441:p.Asp878fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	p.D878fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2848	-			878					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2634delT	CCDS14434.1																																																																																				0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		149	191						149	191	---	---	---	---	-	76938114	A	-	76938114	7	5	396	1	0	1	0	1	0	0	0	0	1208	214	8	0	4952	0	ATRX	23	76938114	Frame_Shift_Del	DEL	A	TCGA-QH-A6XA-01A-12D-A32B-08	37004523	76938114	78332446	17	35248											
TIE1	7075	broad.mit.edu	37	chr1	43772556	43772556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgaagcccaggatgggcGgttcctgctgcagctcccaa	13	13	0	1	rs150406982		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:43772556G>A	ENST00000372476.3	+	4	609	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	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	177					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)				CAGGATGGGCGGTTCCTGCTG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17876	0.0		0.0	False		,,,				2504	0.0					ENST00000372476.3																			0				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						c.(529-531)cGg>cAg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	78	76	77		530	-0.8	1	1	dbSNP_134	77	0,8600		0,0,4300	no	missense	TIE1	NM_005424.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	177/1139	43772556	1,13005	2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772556G>A	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.530G>A	1.37:g.43772556G>A	ENSP00000361554:p.Arg177Gln					TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	p.R177Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			4	609	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	177					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.530G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	6.254	0.415067	0.11870	2.27E-4	0.0	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.41758	0.99;0.99;0.99	5.13	-0.749	0.11084	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.353740	0.05537	N	0.564949	T	0.25754	0.0627	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.20261	0.0;0.002;0.007;0.043;0.001	B;B;B;B;B	0.14578	0.0;0.001;0.001;0.011;0.001	T	0.19257	-1.0311	10	0.12766	T	0.61	.	7.1433	0.25568	0.4791:0.0:0.4099:0.111	.	132;177;177;177;177	B4DTW8;B5A952;B5A950;B5A948;P35590	.;.;.;.;TIE1_HUMAN	Q	177	ENSP00000361554:R177Q;ENSP00000401903:R177Q;ENSP00000440063:R177Q	ENSP00000361554:R177Q	R	+	2	0	TIE1	43545143	0.000000	0.05858	0.956000	0.39512	0.331000	0.28603	-0.790000	0.04604	-0.033000	0.13736	-0.362000	0.07510	CGG		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	49	0	0	0	1	0	28	49					A	43772556	G	A	43772556	3	1	397	1	0	0	0	0	1	0	0	0	15890	1116	39	1	544	1	TIE1	1	43772556	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		43772556	205478065	1	35249											
CA14	23632	broad.mit.edu	37	chr1	150234987	150234987	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgaggctgctgagaggcctCagggcctggctgtcctgggc	18	11	1	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:150234987C>A	ENST00000369111.4	+	5	1433	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	155					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TGAGAGGCCTCAGGGCCTGGC	0.498																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(463-465)Cag>Aag		carbonic anhydrase XIV							117	114	115					1																	150234987		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150234987C>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.463C>A	1.37:g.150234987C>A	ENSP00000358107:p.Gln155Lys						p.Q155K	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1433	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		155					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.463C>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028145	0.75390	.	.	ENSG00000118298	ENST00000369111	T	0.66099	-0.19	5.95	5.95	0.96441	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.240324	0.43260	D	0.000592	T	0.43634	0.1256	N	0.24115	0.695	0.35598	D	0.807636	D	0.54207	0.965	P	0.47015	0.534	T	0.54918	-0.8221	10	0.66056	D	0.02	.	13.4541	0.61189	0.0:0.843:0.157:0.0	.	155	Q9ULX7	CAH14_HUMAN	K	155	ENSP00000358107:Q155K	ENSP00000358107:Q155K	Q	+	1	0	CA14	148501611	0.990000	0.36364	0.988000	0.46212	0.912000	0.54170	2.303000	0.43646	2.817000	0.96982	0.563000	0.77884	CAG		0.498	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		40	59	1	0	3.38236e-24	1	3.71505e-24	40	59					A	150234987	C	A	150234987	3	1	397	1	0	0	0	0	1	0	0	0	2515	827	29	4	481	4	CA14	1	150234987	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	106462431	150234987	99015634	2	35250											
JTB	10899	broad.mit.edu	37	chr1	153947216	153947216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtccaattgtcgctgaCgaatgatgacaagacaagcg	10	9	1	4			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:153947216C>T	ENST00000271843.4	-	5	815	c.380G>A	c.(379-381)cGt>cAt	p.R127H	JTB_ENST00000368589.1_Missense_Mutation_p.R98H|JTB_ENST00000356648.1_Missense_Mutation_p.R98H|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	127					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTCGCTGACGAATGATGAC	0.498																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(379-381)cGt>cAt		jumping translocation breakpoint							144	130	135					1																	153947216		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153947216C>T	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"prostate androgen-regulated gene"	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.380G>A	1.37:g.153947216C>T	ENSP00000271843:p.Arg127His					JTB_ENST00000368589.1_Missense_Mutation_p.R98H|JTB_ENST00000356648.1_Missense_Mutation_p.R98H	p.R127H	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	815	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		127					O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.380G>A	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453364	0.84209	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.67523	-0.27	5.53	4.62	0.57501	.	0.059857	0.64402	D	0.000002	T	0.75110	0.3805	M	0.75615	2.305	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	T	0.79610	-0.1732	10	0.87932	D	0	-11.8565	12.0934	0.53739	0.0:0.9177:0.0:0.0823	.	127	O76095	JTB_HUMAN	H	127;98;98;98	ENSP00000271843:R127H	ENSP00000271843:R127H	R	-	2	0	JTB	152213840	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.634000	0.67833	1.560000	0.49568	0.655000	0.94253	CGT		0.498	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		26	43	0	0	0	1	0	26	43					T	153947216	C	T	153947216	3	4	397	1	0	0	0	0	1	0	0	0	7967	536	19	1	64	1	JTB	1	153947216	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	3712229	153947216	95303405	3	35251											
SEMA4A	64218	broad.mit.edu	37	chr1	156144877	156144877	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctccatctctcttccagGgtgcagtgtttgtaggcttc	9	11	3	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:156144877G>A	ENST00000368285.3	+	13	1702	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	SEMA4A_ENST00000355014.2_Splice_Site_p.G479S|SEMA4A_ENST00000368284.1_Splice_Site_p.G347S|SEMA4A_ENST00000368286.2_Splice_Site_p.G347S|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Splice_Site_p.G479S	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	479	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)					TCTCTTCCAGGGTGCAGTGTT	0.607																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.e13-1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							137	133	134					1																	156144877		2203	4300	6503	SO:0001630	splice_region_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156144877G>A	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.1435-1G>A	1.37:g.156144877G>A						SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Splice_Site_p.G347_splice|SEMA4A_ENST00000368282.1_Splice_Site_p.G479_splice|SEMA4A_ENST00000355014.2_Splice_Site_p.G479_splice|SEMA4A_ENST00000368284.1_Splice_Site_p.G347_splice	p.G479_splice	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			13	1702	+	Hepatocellular(266;0.158)		479			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Splice_Site	SNP	ENST00000368285.3	37	c.1434_splice	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064958	0.36470	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.27	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.456011	0.23736	N	0.045064	T	0.07954	0.0199	L	0.39020	1.185	0.49687	D	0.999818	P;P	0.39157	0.662;0.662	B;B	0.39562	0.303;0.303	T	0.14896	-1.0456	9	.	.	.	.	10.0934	0.42460	0.0986:0.0:0.9013:0.0	.	347;479	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	S	479;479;347;441;441;347;479	ENSP00000347117:G479S;ENSP00000357268:G479S;ENSP00000357267:G347S;ENSP00000357269:G347S;ENSP00000357265:G479S	.	G	+	1	0	SEMA4A	154411501	1.000000	0.71417	0.826000	0.32828	0.377000	0.30045	3.503000	0.53340	1.029000	0.39812	-0.215000	0.12644	GGT		0.607	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	Missense_Mutation	46	85	0	0	0	1	0	46	85					A	156144877	G	A	156144877	5	1	397	1	0	0	0	0	0	0	1	0	14031	1246	43	2	1481	2	SEMA4A	1	156144877	Splice_Site	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2197661	156144877	93105744	4	35252											
SLC35F3	148641	broad.mit.edu	37	chr1	234452366	234452366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattgtggccgccatcctcGccatcgctggcattgtgatg	12	12	0	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:234452366G>A	ENST00000366617.3	+	4	868	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	SLC35F3_ENST00000366618.3_Missense_Mutation_p.A283T			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	214					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCCATCCTCGCCATCGCTGG	0.577																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(847-849)Gcc>Acc		solute carrier family 35, member F3							267	261	263					1																	234452366		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234452366G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.640G>A	1.37:g.234452366G>A	ENSP00000355576:p.Ala214Thr					SLC35F3_ENST00000366617.3_Missense_Mutation_p.A214T	p.A283T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		5	992	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	214					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.847G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.725361	0.96847	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.70986	-0.53;-0.53	5.73	5.73	0.89815	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78770	-0.2074	10	0.40728	T	0.16	-24.1132	19.8785	0.96886	0.0:0.0:1.0:0.0	.	214;283	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	T	283;214	ENSP00000355577:A283T;ENSP00000355576:A214T	ENSP00000355576:A214T	A	+	1	0	SLC35F3	232518989	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.886000	0.87288	2.695000	0.91970	0.655000	0.94253	GCC		0.577	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		165	221	0	0	0	1	0	165	221					A	234452366	G	A	234452366	3	1	397	1	0	0	0	0	1	0	0	0	14590	1087	38	1	865	1	SLC35F3	1	234452366	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	78307489	234452366	14798255	5	35253											
KIF26B	55083	broad.mit.edu	37	chr1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagattctggaacaccGccagcagaggatcgccgagg	14	11	1	3	rs199933797		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:245862232G>A	ENST00000407071.2	+	14	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R1643H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					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)	p.R2024H(1)		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)			CTGGAACACCGCCAGCAGAGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19181	0.0		0.001	False		,,,				2504	0.0					ENST00000366518.4																			1	Substitution - Missense(1)	p.R2024H(1)	ovary(1)	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						c.(4927-4929)cGc>cAc		kinesin family member 26B							73	78	76					1																	245862232		2085	4213	6298	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862232G>A	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.6071G>A	1.37:g.245862232G>A	ENSP00000385545:p.Arg2024His					KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H	p.R1643H			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		11	5032	+	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)		2024					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4928G>A	CCDS44342.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.7	4.184039	0.78677	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87103	-2.21;-2.2	5.82	5.82	0.92795	.	.	.	.	.	D	0.93462	0.7914	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93435	0.6789	9	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	2024	Q2KJY2	KI26B_HUMAN	H	2024;1643;1640	ENSP00000385545:R2024H;ENSP00000355475:R1643H	ENSP00000355475:R1643H	R	+	2	0	KIF26B	243928855	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	8.033000	0.88852	2.752000	0.94435	0.655000	0.94253	CGC		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		17	31	0	0	0	1	0	17	31					A	245862232	G	A	245862232	3	1	397	1	0	0	0	0	1	0	0	0	8295	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	11409866	245862232	3388389	6	35254											
AGBL5	60509	broad.mit.edu	37	chr2	27278663	27278663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaccatgtgcactctcGtctgaactcccagagttcct	6	16	2	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:27278663G>A	ENST00000360131.4	+	7	1181	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	341					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)					GTGCACTCTCGTCTGAACTCC	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1021-1023)cGt>cAt		ATP/GTP binding protein-like 5							106	94	98					2																	27278663		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278663G>A	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.1022G>A	2.37:g.27278663G>A	ENSP00000353249:p.Arg341His					AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H	p.R341H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			7	1181	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		341					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1022G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435072	0.62955	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.34275	1.37;1.37	5.88	5.01	0.66863	.	0.294275	0.41712	N	0.000826	T	0.28333	0.0700	L	0.31804	0.96	0.38729	D	0.953615	B;B;B	0.25007	0.116;0.024;0.095	B;B;B	0.22880	0.042;0.025;0.025	T	0.09335	-1.0679	10	0.38643	T	0.18	-1.3506	14.0673	0.64839	0.0736:0.0:0.9264:0.0	.	341;341;341	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	H	341	ENSP00000323681:R341H;ENSP00000353249:R341H	ENSP00000323681:R341H	R	+	2	0	AGBL5	27132167	0.929000	0.31497	0.669000	0.29828	0.978000	0.69477	4.148000	0.58085	1.500000	0.48636	0.491000	0.48974	CGT		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		24	42	0	0	0	1	0	24	42					A	27278663	G	A	27278663	3	1	397	1	0	0	0	0	1	0	0	0	378	1145	40	1	1044	1	AGBL5	2	27278663	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		27278663	215920710	7	35255											
LY75	4065	broad.mit.edu	37	chr2	160692107	160692107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccattagtttcagcccagCgactaaaatgaagacgtttc	8	11	1	2	rs374255543		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:160692107C>T	ENST00000263636.4	-	26	3584	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H|LY75_ENST00000554112.1_Missense_Mutation_p.R1186H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1186	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGCCCAGCGACTAAAATG	0.413																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3556-3558)cGc>cAc		lymphocyte antigen 75							114	106	109					2																	160692107		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160692107C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3557G>A	2.37:g.160692107C>T	ENSP00000263636:p.Arg1186His					LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000554112.1_Missense_Mutation_p.R1186H	p.R1186H	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	26	3584	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.3557G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603952	0.87157	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.89	5.0	0.66597	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.458258	0.16216	N	0.224276	T	0.64549	0.2608	L	0.45744	1.44	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.72982	0.965;0.979;0.855	T	0.61456	-0.7059	10	0.42905	T	0.14	-6.085	12.127	0.53922	0.0:0.9192:0.0:0.0808	.	1186;1186;1186	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	1186	ENSP00000451511:R1186H;ENSP00000451446:R1186H;ENSP00000263636:R1186H;ENSP00000423463:R1186H;ENSP00000421035:R1186H	ENSP00000423463:R1186H	R	-	2	0	LY75;LY75-CD302	160400353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.035000	0.49759	1.468000	0.48064	0.655000	0.94253	CGC		0.413	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			20	32	0	0	0	1	0	20	32					T	160692107	C	T	160692107	3	4	397	1	0	0	0	0	1	0	0	0	9099	768	27	1	1651	1	LY75	2	160692107	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	133413444	160692107	82507266	8	35256											
C2orf69	205327	broad.mit.edu	37	chr2	200790016	200790028	+	Frame_Shift_Del	DEL	ATGTTATTAGTTA	ATGTTATTAGTTA	-													gagcttttaagcacctttatAtgttattagttaatgctttt							TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:200790016_200790028delATGTTATTAGTTA	ENST00000319974.5	+	2	748_760	c.565_577delATGTTATTAGTTA	c.(565-579)atgttattagttaatfs	p.MLLVN189fs	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	189						extracellular region (GO:0005576)		p.L191L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GCACCTTTATATGTTATTAGTTAATGCTTTTAA	0.338																																						ENST00000319974.5																			1	Substitution - coding silent(1)	p.L191L(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						c.(565-579)atfs		chromosome 2 open reading frame 69																																				SO:0001589	frameshift_variant	205327					extracellular region		g.chr2:200790016_200790028delATGTTATTAGTTA		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"hypothetical protein FLJ38973"					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.565_577delATGTTATTAGTTA	2.37:g.200790016_200790028delATGTTATTAGTTA	ENSP00000312770:p.Met189fs					C2orf69_ENST00000491721.1_Intron	p.MLLVN189fs	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN			2	748_760	+			189					Q8NE30	Frame_Shift_Del	DEL	ENST00000319974.5	37	c.565_577delATGTTATTAGTTA	CCDS46482.1																																																																																				0.338	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		30	26						30	26	---	---	---	---	-	200790028	ATGTTATTAGTTA	-	200790016	7	5	397	1	0	1	0	1	0	0	0	0	2188	449	16	0	571	0	C2orf69	2	200790016	Frame_Shift_Del	DEL	ATGTTATTAGTTA	TCGA-QH-A6XC-01A-12D-A32B-08	40097909	200790016	42409357	9	35257											
ZBTB11	27107	broad.mit.edu	37	chr3	101370258	101370258	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctttcttgttcctgcaTgcctgctgttaagatgctaa	8	10	1	1	rs549056576		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:101370258T>G	ENST00000312938.4	-	11	3494	c.2914A>C	c.(2914-2916)Atg>Ctg	p.M972L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	972					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTTCCTGCATGCCTGCTGTT	0.448																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2914-2916)Atg>Ctg		zinc finger and BTB domain containing 11							205	176	186					3																	101370258		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370258T>G	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2914A>C	3.37:g.101370258T>G	ENSP00000326200:p.Met972Leu						p.M972L	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3494	-			972					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2914A>C	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	T	8.937	0.964863	0.18583	.	.	ENSG00000066422	ENST00000312938	T	0.09445	2.98	5.61	2.04	0.26737	.	0.216731	0.49305	D	0.000149	T	0.03305	0.0096	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.29301	T	0.29	-4.2963	5.2562	0.15548	0.0:0.2815:0.1431:0.5754	.	972	O95625	ZBT11_HUMAN	L	972	ENSP00000326200:M972L	ENSP00000326200:M972L	M	-	1	0	ZBTB11	102852948	0.998000	0.40836	0.931000	0.37212	0.951000	0.60555	0.734000	0.26101	0.432000	0.26286	0.454000	0.30748	ATG		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		40	88	0	0	0	1	0	40	88					G	101370258	T	G	101370258	3	3	397	1	0	0	0	0	1	0	0	0	17521	1464	51	5	251	5	ZBTB11	3	101370258	Missense_Mutation	SNP	T	TCGA-QH-A6XC-01A-12D-A32B-08		101370258	96652172	10	35258											
TRAT1	50852	broad.mit.edu	37	chr3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactatgtggaaaagcaaCgacaaggtaagacattttga	9	8	0	2	rs148894492	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					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						GGAAAAGCAACGACAAGGTAA	0.418													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16849	0.0		0.001	False		,,,				2504	0.0					ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(112-114)Cga>Tga		T cell receptor associated transmembrane adaptor 1		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	142	136	138		112	1.1	0.4	3	dbSNP_134	138	0,8600		0,0,4300	yes	stop-gained	TRAT1	NM_016388.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		38/187	108549621	1,13005	2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549621C>T	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.112C>T	3.37:g.108549621C>T	ENSP00000295756:p.Arg38*					TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	p.R38*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			2	342	+			38					Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.112C>T	CCDS33813.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	36	5.819018	0.96982	2.27E-4	0.0	ENSG00000163519	ENST00000295756	.	.	.	5.16	1.11	0.20524	.	0.444625	0.18520	N	0.138817	.	.	.	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9002	11.9934	0.53188	0.6059:0.3941:0.0:0.0	.	.	.	.	X	38	.	ENSP00000295756:R38X	R	+	1	2	TRAT1	110032311	0.346000	0.24844	0.413000	0.26509	0.880000	0.50808	0.102000	0.15272	0.015000	0.14971	0.591000	0.81541	CGA		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		24	42	0	0	0	1	0	24	42					T	108549621	C	T	108549621	4	4	397	1	0	0	0	0	0	1	0	0	16463	528	19	1	118	1	TRAT1	3	108549621	Nonsense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	7179363	108549621	89472809	11	35259											
C4orf40	401137	broad.mit.edu	37	chr4	71024191	71024191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgacacagggttaccttcGtatccctggattctaacttc	7	12	1	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:71024191G>A	ENST00000344526.5	+	3	411	c.222G>A	c.(220-222)tcG>tcA	p.S74S	C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		74	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTTACCTTCGTATCCCTGGA	0.473																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(220-222)tcG>tcA		chromosome 4 open reading frame 40							242	220	227					4																	71024191		2203	4300	6503	SO:0001819	synonymous_variant	401137					extracellular region		g.chr4:71024191G>A																												ENST00000344526.5:c.222G>A	4.37:g.71024191G>A						C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	p.S74S	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	411	+			74					A8MXP0|Q6MZR6	Silent	SNP	ENST00000344526.5	37	c.222G>A	CCDS3535.1																																																																																				0.473	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			61	103	0	0	0	1	0	61	103					A	71024191	G	A	71024191	2	1	397	1	0	0	0	0	0	0	0	1	2269	1132	40	1		1	C4orf40	4	71024191	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		71024191	120130085	12	35260											
LRBA	987	broad.mit.edu	37	chr4	151236737	151236737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaggatcgatttccactgGcagctggtatggctggtctt	14	8	1	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:151236737G>T	ENST00000357115.3	-	52	7945	c.7702C>A	c.(7702-7704)Cca>Aca	p.P2568T	LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2568						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCCACTGGCAGCTGGTAT	0.383																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7669-7671)Cca>Aca		LPS-responsive vesicle trafficking, beach and anchor containing							113	102	106					4																	151236737		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151236737G>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7702C>A	4.37:g.151236737G>T	ENSP00000349629:p.Pro2568Thr					LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T|LRBA_ENST00000357115.3_Missense_Mutation_p.P2568T|LRBA_ENST00000503716.1_5'UTR	p.P2557T			P50851	LRBA_HUMAN			51	8142	-	all_hematologic(180;0.151)		2568					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7669C>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.658000|3.658000	0.67586|0.67586	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;0.14	5.6|5.6	5.6|5.6	0.85130|0.85130	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.82545	.|0.5060	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.89917	.|1.0;0.995;0.216;0.997	.|D;D;B;D	.|0.83275	.|0.996;0.991;0.336;0.928	.|T	.|0.81006	.|-0.1128	.|10	.|0.42905	.|T	.|0.14	.|.	19.6104|19.6104	0.95604|0.95604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2568;2557;2557;463	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	X|T	1209|2557;2557;2568;2557	.|ENSP00000446299:P2557T;ENSP00000421552:P2557T;ENSP00000349629:P2568T;ENSP00000422180:P2557T	.|ENSP00000349629:P2568T	C|P	-|-	3|1	2|0	LRBA|LRBA	151456187|151456187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.434000|9.434000	0.97515|0.97515	2.636000|2.636000	0.89361|0.89361	0.557000|0.557000	0.71058|0.71058	TGC|CCA		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			12	29	1	0	3.27435e-08	1	3.3751e-08	12	29					T	151236737	G	T	151236737	3	4	397	1	0	0	0	0	1	0	0	0	8931	1203	42	4	917	4	LRBA	4	151236737	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	80212546	151236737	39917539	13	35261											
DCHS2	54798	broad.mit.edu	37	chr4	155176691	155176691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagctggtgagctcGtaatctagaatcgcttttgt	12	7	1	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:155176691G>A	ENST00000357232.4	-	21	5555	c.5556C>T	c.(5554-5556)taC>taT	p.Y1852Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1852	Cadherin 16. {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)		TGGTGAGCTCGTAATCTAGAA	0.443																																						ENST00000357232.3																			0				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						c.(5554-5556)taC>taT		dachsous cadherin-related 2							146	130	136					4																	155176691		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176691G>A	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.5556C>T	4.37:g.155176691G>A							p.Y1852Y	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5555	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1852			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5556C>T	CCDS3785.1																																																																																				0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		18	23	0	0	0	1	0	18	23					A	155176691	G	A	155176691	2	1	397	1	0	0	0	0	0	0	0	1	4288	1140	40	1		1	DCHS2	4	155176691	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	3939954	155176691	35977585	14	35262											
C5orf35	133383	broad.mit.edu	37	chr5	56208853	56208854	+	Frame_Shift_Del	DEL	AG	AG	-													aataggtacagtatatcagaAgtatgagccgatctttttcc							TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr5:56208853_56208854delAG	ENST00000285947.2	+	3	868_869	c.482_483delAG	c.(481-483)aagfs	p.K161fs	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Frame_Shift_Del_p.K161fs	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	161	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										GTATATCAGAAGTATGAGCCGA	0.351																																						ENST00000285947.2																			0											c.(481-483)afs		SET domain containing 9																																				SO:0001589	frameshift_variant	133383							g.chr5:56208853_56208854delAG	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.482_483delAG	5.37:g.56208853_56208854delAG	ENSP00000285947:p.Lys161fs					SETD9_ENST00000541720.1_Frame_Shift_Del_p.K161fs|SETD9_ENST00000475908.1_3'UTR	p.K161fs	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN			3	868_869	+			161					F5H713	Frame_Shift_Del	DEL	ENST00000285947.2	37	c.482_483delAG	CCDS3972.1																																																																																				0.351	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		28	78						28	78	---	---	---	---	-	56208854	AG	-	56208853	7	5	397	1	0	1	0	1	0	0	0	0	2294	72	3	0	492	0	C5orf35	5	56208853	Frame_Shift_Del	DEL	AG	TCGA-QH-A6XC-01A-12D-A32B-08		56208853	124706407	15	35263											
LRFN2	57497	broad.mit.edu	37	chr6	40359746	40359746	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcccccaccaggtcaCtctcctcaaagggcaagagc	10	18	3	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:40359746C>A	ENST00000338305.6	-	3	2848	c.2306G>T	c.(2305-2307)aGt>aTt	p.S769I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	769						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGGTCACTCTCCTCAAA	0.642																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2305-2307)aGt>aTt		leucine rich repeat and fibronectin type III domain containing 2							45	46	46					6																	40359746		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359746C>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.2306G>T	6.37:g.40359746C>A	ENSP00000345985:p.Ser769Ile						p.S769I	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2848	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		769					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2306G>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022447	0.35701	.	.	ENSG00000156564	ENST00000338305	T	0.61742	0.08	5.27	2.23	0.28157	.	0.337411	0.38548	N	0.001652	T	0.23886	0.0578	L	0.32530	0.975	0.28191	N	0.927767	B	0.33379	0.41	B	0.31812	0.136	T	0.08994	-1.0695	10	0.87932	D	0	.	6.4703	0.22005	0.0:0.6328:0.1393:0.2279	.	769	Q9ULH4	LRFN2_HUMAN	I	769	ENSP00000345985:S769I	ENSP00000345985:S769I	S	-	2	0	LRFN2	40467724	0.837000	0.29446	1.000000	0.80357	0.980000	0.70556	0.295000	0.19065	1.195000	0.43115	0.555000	0.69702	AGT		0.642	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		17	35	1	0	3.51602e-12	1	3.68083e-12	17	35					A	40359746	C	A	40359746	3	1	397	1	0	0	0	0	1	0	0	0	8938	565	20	4	67	4	LRFN2	6	40359746	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		40359746	130755321	16	35264											
ROS1	6098	broad.mit.edu	37	chr6	117638325	117638325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttgccatccgggctttaCgcaaataagtaagaaggtct	10	10	1	1	rs3752566	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:117638325C>T	ENST00000368508.3	-	38	6314	c.6116G>A	c.(6115-6117)cGt>cAt	p.R2039H	GOPC_ENST00000467125.1_5'Flank|ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2039	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs3752566).		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)		CCGGGCTTTACGCAAATAAGT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								C|||	2	0.000399361	0.0	0.0	5008	,	,		20487	0.002		0.0	False		,,,				2504	0.0					ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(6115-6117)cGt>cAt		c-ros oncogene 1 , receptor tyrosine kinase		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	132	122	125		6116	5.3	1	6	dbSNP_107	125	0,8600		0,0,4300	yes	missense	ROS1	NM_002944.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2039/2348	117638325	1,13005	2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117638325C>T	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.6116G>A	6.37:g.117638325C>T	ENSP00000357494:p.Arg2039His					ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	p.R2039H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	38	6314	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2039		R -> H (in dbSNP:rs3752566).	Protein kinase.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6116G>A	CCDS5116.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	24.8	4.573733	0.86542	2.27E-4	0.0	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83914	-1.78;-1.78	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000012	T	0.81607	0.4858	L	0.35542	1.07	0.50039	D	0.999847	D	0.62365	0.991	P	0.56612	0.802	D	0.84554	0.0646	10	0.87932	D	0	.	17.9782	0.89132	0.0:1.0:0.0:0.0	rs3752566;rs52805823;rs3752566	2039	P08922	ROS1_HUMAN	H	2039;2033	ENSP00000357494:R2039H;ENSP00000357493:R2033H	ENSP00000357493:R2033H	R	-	2	0	ROS1	117745018	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	4.231000	0.58639	2.487000	0.83934	0.655000	0.94253	CGT		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			22	44	0	0	0	1	0	22	44					T	117638325	C	T	117638325	3	4	397	1	0	0	0	0	1	0	0	0	13531	536	19	1	951	1	ROS1	6	117638325	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	77278579	117638325	53476742	17	35265											
HBS1L	10767	broad.mit.edu	37	chr6	135290403	135290403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctttgtgacttcacccGtgcttttgtttaagacacta	6	9	2	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:135290403G>A	ENST00000367837.5	-	16	2077	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M|HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M|HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	624					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GACTTCACCCGTGCTTTTGTT	0.318																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1870-1872)aCg>aTg		HBS1-like (S. cerevisiae)							93	89	90					6																	135290403		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135290403G>A	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1871C>T	6.37:g.135290403G>A	ENSP00000356811:p.Thr624Met					HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M|HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M	p.T624M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	16	2077	-	Colorectal(23;0.221)		624					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1871C>T	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407931	0.83340	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.70986	-0.51;-0.48;-0.47;-0.53;-0.48;-0.52;0.6	5.81	5.81	0.92471	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.041756	0.85682	D	0.000000	D	0.88127	0.6353	H	0.94183	3.505	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74674	0.972;0.984	D	0.90445	0.4434	10	0.87932	D	0	-11.1556	20.0745	0.97737	0.0:0.0:1.0:0.0	.	582;624	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	M	624;460;559;582;460;494;348	ENSP00000356811:T624M;ENSP00000436256:T460M;ENSP00000389826:T559M;ENSP00000356800:T582M;ENSP00000356798:T460M;ENSP00000434533:T494M;ENSP00000415305:T348M	ENSP00000356798:T460M	T	-	2	0	HBS1L	135332096	1.000000	0.71417	0.960000	0.40013	0.999000	0.98932	4.910000	0.63321	2.750000	0.94351	0.655000	0.94253	ACG		0.318	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			3	40	0	0	0	1	0	3	40					A	135290403	G	A	135290403	3	1	397	1	0	0	0	0	1	0	0	0	6987	1145	40	1	195	1	HBS1L	6	135290403	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	17652078	135290403	35824664	18	35266											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	12	11	2	2	rs139236063		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					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)	p.G598V(15)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	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						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		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.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		15	1970	+	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)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1237	118	1	0	0	1	0	1237	118					T	55233043	G	T	55233043	3	4	397	1	0	0	0	0	1	0	0	0	4967	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		55233043	103905620	19	35267											
AKAP9	10142	broad.mit.edu	37	chr7	91727520	91727520	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaattaactggccagcaaGgtgaagaggtaatacttttt	10	5	0	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:91727520G>T	ENST00000359028.2	+	43	10942	c.10717G>T	c.(10717-10719)Ggt>Tgt	p.G3573C	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3573					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGCCAGCAAGGTGAAGAGGT	0.303			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(10717-10719)Ggt>Tgt		A kinase (PRKA) anchor protein 9							36	36	36					7																	91727520		2203	4297	6500	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91727520G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10717G>T	7.37:g.91727520G>T	ENSP00000351922:p.Gly3573Cys					AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C	p.G3573C			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		43	10942	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3573					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.10717G>T		.	.	.	.	.	.	.	.	.	.	G	4.488	0.090575	0.08632	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03468	4.01;4.01;4.01;3.92	4.74	1.87	0.25490	.	0.377447	0.19514	N	0.112447	T	0.03011	0.0089	L	0.41027	1.25	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.003;0.002;0.003;0.003	B;B;B;B;B	0.14578	0.001;0.011;0.005;0.011;0.011	T	0.42515	-0.9447	10	0.40728	T	0.16	.	1.7324	0.02934	0.281:0.1364:0.4427:0.1398	.	844;3573;3573;3569;3561	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	C	3569;3573;3519;3573;1415	ENSP00000348573:G3569C;ENSP00000351922:G3573C;ENSP00000350813:G3519C;ENSP00000378042:G1415C	ENSP00000348573:G3569C	G	+	1	0	AKAP9	91565456	0.000000	0.05858	0.030000	0.17652	0.280000	0.26924	0.056000	0.14256	0.294000	0.22547	0.591000	0.81541	GGT		0.303	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	49	1	0	0.000978159	1	0.00099298	11	49					T	91727520	G	T	91727520	3	4	397	1	0	0	0	0	1	0	0	0	459	1000	35	4	10875	4	AKAP9	7	91727520	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	36494477	91727520	67411143	20	35268											
COL1A2	1278	broad.mit.edu	37	chr7	94038132	94038132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaggtgcccctggcccCaaggtaaaaacactggtgac	10	14	0	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:94038132C>T	ENST00000297268.6	+	16	1260	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	263					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)	p.P263P(1)	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)	CCCCTGGCCCCAAGGTAAAAA	0.433										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)	p.P263P(1)	upper_aerodigestive_tract(1)	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						c.(787-789)ccC>ccT		collagen, type I, alpha 2	Collagenase(DB00048)						52	53	53					7																	94038132		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038132C>T	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.789C>T	7.37:g.94038132C>T		HNSCC(75;0.22)					p.P263P	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	1260	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		263					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.789C>T	CCDS34682.1																																																																																				0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		11	54	0	0	0	1	0	11	54					T	94038132	C	T	94038132	2	4	397	1	0	0	0	0	0	0	0	1	3678	581	21	2		2	COL1A2	7	94038132	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	2310612	94038132	65100531	21	35269											
RELN	5649	broad.mit.edu	37	chr7	103138353	103138353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttctcactaccgatgCgcccccagtattgcaggaac	9	13	1	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103138353C>T	ENST00000428762.1	-	55	9023	c.8864G>A	c.(8863-8865)cGc>cAc	p.R2955H	RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.R2955H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					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)		ACTACCGATGCGCCCCCAGTA	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				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						c.(8863-8865)cGc>cAc		reelin							115	87	97					7																	103138353		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138353C>T		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.8864G>A	7.37:g.103138353C>T	ENSP00000392423:p.Arg2955His					RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|RELN_ENST00000424685.2_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA	p.R2955H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9023	-			2955					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8864G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478511	0.96291	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	5.89	5.89	0.94794	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.924	T	0.47114	-0.9142	10	0.72032	D	0.01	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	2955;2955	P78509-2;P78509	.;RELN_HUMAN	H	2955;2955;2955;472;2955	ENSP00000392423:R2955H;ENSP00000345694:R2955H;ENSP00000388446:R2955H	ENSP00000345694:R2955H	R	-	2	0	RELN	102925589	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.270000	0.78493	2.793000	0.96121	0.655000	0.94253	CGC		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	45	0	0	0	1	0	13	45					T	103138353	C	T	103138353	3	4	397	1	0	0	0	0	1	0	0	0	13220	768	27	1	1562	1	RELN	7	103138353	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	9100221	103138353	56000310	22	35270											
RELN	5649	broad.mit.edu	37	chr7	103629745	103629745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgcgcgcgccctcagcGtcgcccccagcaacagcgct	11	22	1	0	rs145135688		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103629745G>A	ENST00000428762.1	-	1	218	c.59C>T	c.(58-60)aCg>aTg	p.T20M	RELN_ENST00000343529.5_Missense_Mutation_p.T20M|RELN_ENST00000424685.2_Missense_Mutation_p.T20M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	20					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)		CGCCCTCAGCGTCGCCCCCAG	0.736													G|||	1	0.000199681	0.0008	0.0	5008	,	,		9313	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				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						c.(58-60)aCg>aTg		reelin		G	MET/THR,MET/THR	5,4397		0,5,2196	15	18	17		59,59	3.3	1	7	dbSNP_134	17	0,8594		0,0,4297	no	missense,missense	RELN	NM_005045.3,NM_173054.2	81,81	0,5,6493	AA,AG,GG		0.0,0.1136,0.0385	benign,benign	20/3461,20/3459	103629745	5,12991	2201	4297	6498	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629745G>A		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.59C>T	7.37:g.103629745G>A	ENSP00000392423:p.Thr20Met					RELN_ENST00000428762.1_Missense_Mutation_p.T20M|RELN_ENST00000343529.5_Missense_Mutation_p.T20M	p.T20M			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	1	218	-			20					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.59C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843340	0.32606	0.001136	0.0	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23754	1.89;1.89;1.89	4.3	3.32	0.38043	.	0.278938	0.27591	U	0.018684	T	0.11367	0.0277	N	0.08118	0	0.25248	N	0.989691	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.13575	-1.0504	10	0.31617	T	0.26	.	7.255	0.26171	0.1812:0.0:0.8188:0.0	.	20;20	P78509-2;P78509	.;RELN_HUMAN	M	20	ENSP00000392423:T20M;ENSP00000345694:T20M;ENSP00000388446:T20M	ENSP00000345694:T20M	T	-	2	0	RELN	103416981	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.034000	0.49751	2.212000	0.71576	0.563000	0.77884	ACG		0.736	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	36	0	0	0	1	0	13	36					A	103629745	G	A	103629745	3	1	397	1	0	0	0	0	1	0	0	0	13220	1145	40	1	10583	1	RELN	7	103629745	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	491392	103629745	55508918	23	35271											
MKRN1	23608	broad.mit.edu	37	chr7	140154464	140154464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaacctcttcttcatcGttgtcaaaggggttgctgtt	10	9	4	1	rs147839699		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:140154464G>A	ENST00000255977.2	-	8	1526	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MKRN1_ENST00000474576.1_Silent_p.N370N|MKRN1_ENST00000437223.2_Silent_p.N168N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	434					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTCTTCATCGTTGTCAAAGG	0.498													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21788	0.0		0.0	False		,,,				2504	0.0					ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1300-1302)aaC>aaT		makorin ring finger protein 1		G		2,4404	6.2+/-15.9	0,2,2201	114	94	101		1302	4	1	7	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous	MKRN1	NM_013446.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		434/483	140154464	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154464G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"RING-type (C3HC4) zinc fingers"	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1302C>T	7.37:g.140154464G>A						MKRN1_ENST00000474576.1_Silent_p.N370N|MKRN1_ENST00000437223.2_Silent_p.N168N	p.N434N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			8	1526	-	Melanoma(164;0.00956)		434					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.1302C>T	CCDS5860.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.48	1.950777	0.34471	4.54E-4	0.0	ENSG00000133606	ENST00000463142	.	.	.	4.92	3.96	0.45880	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45512	-0.9256	5	0.24483	T	0.36	.	10.1504	0.42788	0.1632:0.0:0.8368:0.0	.	.	.	.	M	87	.	ENSP00000417346:T87M	T	-	2	0	MKRN1	139800933	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.470000	0.53100	2.563000	0.86464	0.650000	0.86243	ACG		0.498	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		16	41	0	0	0	1	0	16	41					A	140154464	G	A	140154464	2	1	397	1	0	0	0	0	0	0	0	1	9606	1136	40	1		1	MKRN1	7	140154464	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	36524719	140154464	18984199	24	35272											
KEL	3792	broad.mit.edu	37	chr7	142658889	142658889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccacttacctcttggCtccagagagttcccattcca	9	14	1	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:142658889C>A	ENST00000355265.2	-	2	548	c.74G>T	c.(73-75)aGc>aTc	p.S25I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	25					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACCTCTTGGCTCCAGAGAGT	0.537																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(73-75)aGc>aTc		Kell blood group, metallo-endopeptidase							288	247	261					7																	142658889		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658889C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.74G>T	7.37:g.142658889C>A	ENSP00000347409:p.Ser25Ile					KEL_ENST00000479768.2_5'UTR	p.S25I	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			2	548	-	Melanoma(164;0.059)		25					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.74G>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.559|8.559	0.877329|0.877329	0.17395|0.17395	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;T;D	.|0.85013	.|-1.65;0.84;-1.93	4.38|4.38	2.46|2.46	0.29980|0.29980	.|.	.|0.492894	.|0.19084	.|N	.|0.123152	T|T	0.70046|0.70046	0.3179|0.3179	N|N	0.19112|0.19112	0.55|0.55	0.24453|0.24453	N|N	0.994475|0.994475	.|P	.|0.40476	.|0.718	.|B	.|0.36030	.|0.216	T|T	0.64462|0.64462	-0.6402|-0.6402	5|10	.|0.66056	.|D	.|0.02	-0.0212|-0.0212	5.4025|5.4025	0.16303|0.16303	0.0:0.6607:0.2242:0.1151|0.0:0.6607:0.2242:0.1151	.|.	.|25	.|P23276	.|KELL_HUMAN	D|I	35|25;25;6	.|ENSP00000347409:S25I;ENSP00000419889:S25I;ENSP00000420011:S6I	.|ENSP00000347409:S25I	E|S	-|-	3|2	2|0	KEL|KEL	142369011|142369011	0.077000|0.077000	0.21312|0.21312	0.554000|0.554000	0.28268|0.28268	0.011000|0.011000	0.07611|0.07611	0.498000|0.498000	0.22530|0.22530	1.072000|1.072000	0.40860|0.40860	0.555000|0.555000	0.69702|0.69702	GAG|AGC		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		67	346	1	0	3.61678e-42	1	4.03874e-42	67	346					A	142658889	C	A	142658889	3	1	397	1	0	0	0	0	1	0	0	0	8142	797	28	4	2196	4	KEL	7	142658889	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	2504425	142658889	16479774	25	35273											
PRSS55	203074	broad.mit.edu	37	chr8	10388838	10388838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcgtgctggggaccaaCgacttaactagcccatccat	10	12	0	0	rs35035741		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr8:10388838C>T	ENST00000328655.3	+	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.N127N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507																																						ENST00000328655.3																			1	Substitution - coding silent(1)	p.N127N(1)	endometrium(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(379-381)aaC>aaT		protease, serine, 55							134	127	129					8																	10388838		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388838C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.381C>T	8.37:g.10388838C>T						PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	421	+			127			Peptidase S1.		E5RJX5	Silent	SNP	ENST00000328655.3	37	c.381C>T	CCDS5976.1																																																																																				0.507	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		31	104	0	0	0	1	0	31	104					T	10388838	C	T	10388838	2	4	397	1	0	0	0	0	0	0	0	1	12634	535	19	1		1	PRSS55	8	10388838	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		10388838	135975184	26	35274											
C9orf11	54586	broad.mit.edu	37	chr9	27284733	27284733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttcttcaccgggtaacCgactcatcgttttcatgcat	7	11	4	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:27284733C>T	ENST00000380032.3	-	8	956	c.873G>A	c.(871-873)tcG>tcA	p.S291S	LINC00032_ENST00000425633.1_lincRNA|EQTN_ENST00000537675.1_Silent_p.S262S	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	291					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.S291S(1)									ACCGGGTAACCGACTCATCGT	0.353																																						ENST00000380032.3																			1	Substitution - coding silent(1)	p.S291S(1)	central_nervous_system(1)								c.(871-873)tcG>tcA		equatorin, sperm acrosome associated							111	102	105					9																	27284733		2203	4300	6503	SO:0001819	synonymous_variant	54586							g.chr9:27284733C>T	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.873G>A	9.37:g.27284733C>T						EQTN_ENST00000537675.1_Silent_p.S262S	p.S291S	NM_020641.2	NP_065692.2					8	956	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	ENST00000380032.3	37	c.873G>A	CCDS35001.1																																																																																				0.353	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		31	19	0	0	0	1	0	31	19					T	27284733	C	T	27284733	2	4	397	1	0	0	0	0	0	0	0	1	2448	639	23	1		1	C9orf11	9	27284733	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		27284733	113928698	27	35275											
KIAA1539	80256	broad.mit.edu	37	chr9	35107992	35107992	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccacagtagatggttcttCagggggtagtccctctctgg	12	12	3	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35107992C>T	ENST00000378561.1	-	2	3335	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	FAM214B_ENST00000378557.1_Missense_Mutation_p.E94K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E94K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E94K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E94K|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000603301.1_Missense_Mutation_p.E94K|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.E94K			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	94						nucleus (GO:0005634)											GATGGTTCTTCAGGGGGTAGT	0.637																																						ENST00000378561.1																			0											c.(280-282)Gaa>Aaa		family with sequence similarity 214, member B							44	48	47					9																	35107992		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35107992C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.280G>A	9.37:g.35107992C>T	ENSP00000367823:p.Glu94Lys					FAM214B_ENST00000605244.1_Missense_Mutation_p.E94K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E94K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E94K|FAM214B_ENST00000378557.1_Missense_Mutation_p.E94K|FAM214B_ENST00000603301.1_Missense_Mutation_p.E94K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E94K|FAM214B_ENST00000378566.1_Intron	p.E94K			Q7L5A3	K1539_HUMAN			2	3335	-			94					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.280G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640610	0.67244	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.71	4.71	0.59529	.	0.081322	0.51477	D	0.000088	T	0.59280	0.2182	L	0.55481	1.735	0.30661	N	0.754412	D	0.69078	0.997	D	0.73380	0.98	T	0.59193	-0.7500	9	0.38643	T	0.18	-0.6901	9.9909	0.41870	0.1613:0.7007:0.138:0.0	.	94	Q7L5A3	K1539_HUMAN	K	94	.	ENSP00000319897:E94K	E	-	1	0	KIAA1539	35097992	0.997000	0.39634	0.999000	0.59377	0.948000	0.59901	1.868000	0.39509	2.455000	0.83008	0.555000	0.69702	GAA		0.637	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		21	40	0	0	0	1	0	21	40					T	35107992	C	T	35107992	3	4	397	1	0	0	0	0	1	0	0	0	8242	835	29	2	1364	2	KIAA1539	9	35107992	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	7823259	35107992	106105439	28	35276											
TLN1	7094	broad.mit.edu	37	chr9	35724224	35724224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagctgtacagggtcccGggaatccacattctggtctg	12	11	3	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35724224G>A	ENST00000314888.9	-	6	972	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	207	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			ACAGGGTCCCGGGAATCCACA	0.587																																						ENST00000314888.9																			0				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						c.(619-621)Cgg>Tgg		talin 1							85	73	77					9																	35724224		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35724224G>A	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.619C>T	9.37:g.35724224G>A	ENSP00000316029:p.Arg207Trp					TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	972	-	all_epithelial(49;0.167)		207			FERM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.619C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759211	0.69763	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.78924	-1.22;-1.22	5.39	5.39	0.77823	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	D	0.88793	0.6533	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	D	0.90345	0.4362	10	0.87932	D	0	-18.0375	13.3561	0.60629	0.0:0.0:0.7224:0.2776	.	207;207	Q5TCU5;Q9Y490	.;TLN1_HUMAN	W	207	ENSP00000316029:R207W;ENSP00000442981:R207W	ENSP00000316029:R207W	R	-	1	2	TLN1	35714224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.211000	0.42825	2.525000	0.85131	0.655000	0.94253	CGG		0.587	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		3	46	0	0	0	1	0	3	46					A	35724224	G	A	35724224	3	1	397	1	0	0	0	0	1	0	0	0	15944	1115	39	1	7214	1	TLN1	9	35724224	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	616232	35724224	105489207	29	35277											
TRPM6	140803	broad.mit.edu	37	chr9	77415326	77415326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgagttcatacgtcaaCagcgtcatggccatgcgctc	9	13	3	1	rs570964806		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:77415326C>T	ENST00000360774.1	-	17	2319	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	TRPM6_ENST00000451710.3_Silent_p.L694L|TRPM6_ENST00000376871.3_Intron|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376864.4_Silent_p.L694L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000449912.2_Silent_p.L689L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	694					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						CATACGTCAACAGCGTCATGG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		17506	0.001		0.0	False		,,,				2504	0.0					ENST00000451710.3																			0				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						c.(2080-2082)ctG>ctA		transient receptor potential cation channel, subfamily M, member 6							130	106	114					9																	77415326		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415326C>T	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.2082G>A	9.37:g.77415326C>T						TRPM6_ENST00000449912.2_Silent_p.L689L|TRPM6_ENST00000376864.4_Silent_p.L694L|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.L694L|TRPM6_ENST00000376871.3_Intron	p.L694L			Q9BX84	TRPM6_HUMAN			17	2319	-			694					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2082G>A	CCDS6647.1																																																																																				0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		16	37	0	0	0	1	0	16	37					T	77415326	C	T	77415326	2	4	397	1	0	0	0	0	0	0	0	1	16587	465	17	2		2	TRPM6	9	77415326	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	41691102	77415326	63798105	30	35278											
CLIC3	9022	broad.mit.edu	37	chr9	139889191	139889191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcgctgtgcggacacGtgtatttgaactctttctcc	10	12	3	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:139889191G>A	ENST00000494426.1	-	6	912	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	218	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGACACGTGTATTTGAA	0.682																																						ENST00000494426.1																			0				lung(1)|skin(1)	2						c.(652-654)aCg>aTg		chloride intracellular channel 3							28	30	29					9																	139889191		2188	4290	6478	SO:0001583	missense	9022				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity	g.chr9:139889191G>A	AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"Ion channels / Chloride channels : Intracellular"	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.653C>T	9.37:g.139889191G>A	ENSP00000419378:p.Thr218Met					CLIC3_ENST00000480181.1_5'UTR	p.T218M	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	912	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	218			GST C-terminal.		Q5SPZ7	Missense_Mutation	SNP	ENST00000494426.1	37	c.653C>T	CCDS7021.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894759	0.72639	.	.	ENSG00000169583	ENST00000494426	D	0.94862	-3.54	4.42	4.42	0.53409	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.90870	3.155	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	.	16.7909	0.85589	0.0:0.0:1.0:0.0	.	218	O95833	CLIC3_HUMAN	M	218	ENSP00000419378:T218M	ENSP00000419378:T218M	T	-	2	0	CLIC3	139009012	1.000000	0.71417	0.996000	0.52242	0.215000	0.24574	3.344000	0.52174	2.285000	0.76669	0.491000	0.48974	ACG		0.682	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055173.2	NM_004669		6	8	0	0	0	1	0	6	8					A	139889191	G	A	139889191	3	1	397	1	0	0	0	0	1	0	0	0	3527	1145	40	1	61	1	CLIC3	9	139889191	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	62473865	139889191	1324240	31	35279											
A1CF	29974	broad.mit.edu	37	chr10	52575967	52575967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccttccacctgtgcctcGggtatacctaacataactgt	7	15	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:52575967G>A	ENST00000373993.1	-	7	984	c.940C>T	c.(940-942)Cga>Tga	p.R314*	A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.R307*|A1CF_ENST00000374001.2_Nonsense_Mutation_p.R314*|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	314					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						CCTGTGCCTCGGGTATACCTA	0.493																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(919-921)Cga>Tga		APOBEC1 complementation factor							148	143	145					10																	52575967		2203	4300	6503	SO:0001587	stop_gained	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52575967G>A	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.940C>T	10.37:g.52575967G>A	ENSP00000363105:p.Arg314*					ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*	p.R307*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			11	1315	-			314					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Nonsense_Mutation	SNP	ENST00000373993.1	37	c.919C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587421	0.96590	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	.	.	.	5.78	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6925	0.51525	0.0:0.0:0.6786:0.3214	.	.	.	.	X	314;314;314;322;314;259;297;307	.	ENSP00000282641:R314X	R	-	1	2	A1CF	52245973	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.757000	0.38400	1.413000	0.46997	0.650000	0.86243	CGA		0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		10	12	0	0	0	1	0	10	12					A	52575967	G	A	52575967	4	1	397	1	0	0	0	0	0	1	0	0	2	1124	39	1	864	1	A1CF	10	52575967	Nonsense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		52575967	82958780	32	35280											
KIF20B	9585	broad.mit.edu	37	chr10	91486211	91486211	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagtttaatcaaattaaAgctgaattagctaaaaccaa	4	6	1	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:91486211A>G	ENST00000371728.3	+	16	2228	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	KIF20B_ENST00000416354.1_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.K721K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	721					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAAATTAAAGCTGAATTAG	0.303																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(2161-2163)aaA>aaG		kinesin family member 20B							32	31	31					10																	91486211		2201	4293	6494	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91486211A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2163A>G	10.37:g.91486211A>G						KIF20B_ENST00000394289.2_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.K721K	p.K721K			Q96Q89	KI20B_HUMAN			16	2235	+			721					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.2163A>G																																																																																					0.303	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		5	6	0	0	0	1	0	5	6					G	91486211	A	G	91486211	2	3	397	1	0	0	0	0	0	0	0	1	8287	69	3	3		3	KIF20B	10	91486211	Silent	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08	38910244	91486211	44048536	33	35281											
LUZP2	338645	broad.mit.edu	37	chr11	24936025	24936025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttgccttacagtcaAaaaaaatccaagcccagctg	6	10	1	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:24936025A>G	ENST00000336930.6	+	7	529	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	LUZP2_ENST00000533227.1_Missense_Mutation_p.K69E			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	155						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTACAGTCAAAAAAAATCCA	0.348																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(205-207)Aaa>Gaa		leucine zipper protein 2							90	89	89					11																	24936025		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:24936025A>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.463A>G	11.37:g.24936025A>G	ENSP00000336817:p.Lys155Glu					LUZP2_ENST00000336930.6_Missense_Mutation_p.K155E	p.K69E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			7	492	+			155					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.205A>G	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449597	0.63178	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	.	0.119882	0.53938	D	0.000058	T	0.35711	0.0941	L	0.34521	1.04	0.38147	D	0.938626	D	0.56035	0.974	P	0.59221	0.854	T	0.27872	-1.0061	10	0.62326	D	0.03	-18.2677	13.6113	0.62080	1.0:0.0:0.0:0.0	.	155	Q86TE4	LUZP2_HUMAN	E	155;69	ENSP00000336817:K155E;ENSP00000432952:K69E	ENSP00000336817:K155E	K	+	1	0	LUZP2	24892601	1.000000	0.71417	0.995000	0.50966	0.376000	0.30014	5.865000	0.69583	2.093000	0.63338	0.383000	0.25322	AAA		0.348	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		18	24	0	0	0	1	0	18	24					G	24936025	A	G	24936025	3	3	397	1	0	0	0	0	1	0	0	0	9087	15	1	3	489	3	LUZP2	11	24936025	Missense_Mutation	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08		24936025	110070491	34	35282											
MTMR2	8898	broad.mit.edu	37	chr11	95569452	95569453	+	Frame_Shift_Del	DEL	TG	TG	-													gtcttccagctggctgtttaTgtaagaccacagtgacacag							TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:95569452_95569453delTG	ENST00000346299.5	-	14	1969_1970	c.1629_1630delCA	c.(1627-1632)tacatafs	p.I544fs	MTMR2_ENST00000352297.7_Frame_Shift_Del_p.I472fs|MTMR2_ENST00000393223.3_Frame_Shift_Del_p.I472fs|MTMR2_ENST00000409459.1_Frame_Shift_Del_p.I472fs	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	544	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y471Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGCTGTTTATGTAAGACCACA	0.431																																						ENST00000393223.3																			1	Substitution - coding silent(1)	p.Y471Y(1)	pancreas(1)	autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1411-1416)tatafs		myotubularin related protein 2																																				SO:0001589	frameshift_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95569452_95569453delTG	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1629_1630delCA	11.37:g.95569452_95569453delTG	ENSP00000345752:p.Ile544fs					MTMR2_ENST00000346299.5_Frame_Shift_Del_p.YI543fs|MTMR2_ENST00000409459.1_Frame_Shift_Del_p.YI471fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.YI471fs	p.YI471fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			16	2075_2076	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	543			Myotubularin phosphatase.		A6NN98|Q9UPS9	Frame_Shift_Del	DEL	ENST00000346299.5	37	c.1413_1414delCA	CCDS8305.1																																																																																				0.431	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		53	72						53	72	---	---	---	---	-	95569453	TG	-	95569452	7	5	397	1	0	1	0	1	0	0	0	0	9944	1464	51	0	309	0	MTMR2	11	95569452	Frame_Shift_Del	DEL	TG	TCGA-QH-A6XC-01A-12D-A32B-08	70633427	95569452	39437064	35	35283											
CLEC9A	283420	broad.mit.edu	37	chr12	10218182	10218182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcgtctaactgcagcaCgtggaagtattttatctgtg	9	8	3	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:10218182C>T	ENST00000355819.1	+	9	1290	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AACTGCAGCACGTGGAAGTAT	0.423																																						ENST00000355819.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						c.(676-678)aCg>aTg		C-type lectin domain family 9, member A							216	181	193					12																	10218182		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10218182C>T		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"C-type lectin domain containing"	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.677C>T	12.37:g.10218182C>T	ENSP00000348074:p.Thr226Met						p.T226M	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN			9	1290	+			226			C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.677C>T	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	5.425	0.263511	0.10294	.	.	ENSG00000197992	ENST00000355819	T	0.19669	2.13	4.79	-9.57	0.00562	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.272550	0.02443	N	0.084798	T	0.11410	0.0278	N	0.26042	0.785	0.09310	N	1	P	0.43633	0.813	B	0.40329	0.326	T	0.28235	-1.0050	10	0.32370	T	0.25	.	2.0695	0.03610	0.4097:0.2796:0.1076:0.2031	.	226	Q6UXN8	CLC9A_HUMAN	M	226	ENSP00000348074:T226M	ENSP00000348074:T226M	T	+	2	0	CLEC9A	10109449	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-4.861000	0.00177	-4.775000	0.00032	-2.148000	0.00335	ACG		0.423	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		31	55	0	0	0	1	0	31	55					T	10218182	C	T	10218182	3	4	397	1	0	0	0	0	1	0	0	0	3522	536	19	1	699	1	CLEC9A	12	10218182	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		10218182	123633713	36	35284											
GLS2	27165	broad.mit.edu	37	chr12	56873645	56873645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctcatgcagtctcggAgccgaggatctgatgtctgc	12	12	5	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:56873645A>C	ENST00000311966.4	-	3	601	c.323T>G	c.(322-324)cTc>cGc	p.L108R	GLS2_ENST00000539272.1_Missense_Mutation_p.L108R|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	108					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)	GCAGTCTCGGAGCCGAGGATC	0.537																																						ENST00000311966.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(322-324)cTc>cGc		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						81	70	74					12																	56873645		2203	4300	6503	SO:0001583	missense	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56873645A>C		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.323T>G	12.37:g.56873645A>C	ENSP00000310447:p.Leu108Arg					GLS2_ENST00000539272.1_Missense_Mutation_p.L108R	p.L108R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN			3	601	-			108					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.323T>G	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608736	0.87258	.	.	ENSG00000135423	ENST00000311966;ENST00000461077;ENST00000539272	T	0.52526	0.66	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	M	0.67397	2.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.69639	-0.5091	10	0.87932	D	0	-11.281	14.0828	0.64937	1.0:0.0:0.0:0.0	.	108	Q9UI32	GLSL_HUMAN	R	108	ENSP00000310447:L108R	ENSP00000310447:L108R	L	-	2	0	GLS2	55159912	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.566000	0.90734	2.226000	0.72624	0.533000	0.62120	CTC		0.537	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		9	30	0	0	0	1	0	9	30					C	56873645	A	C	56873645	3	2	397	1	0	0	0	0	1	0	0	0	6464	304	11	5	1549	5	GLS2	12	56873645	Missense_Mutation	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08	46655463	56873645	76978250	37	35285											
NID2	22795	broad.mit.edu	37	chr14	52535572	52535572	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcgtcgtcgccttcctgcagGagctggtccccccacgactc	10	18	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:52535572G>C	ENST00000216286.5	-	1	140	c.141C>G	c.(139-141)ctC>ctG	p.L47L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	47					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCCTGCAGGAGCTGGTCCC	0.622																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(139-141)ctC>ctG		nidogen 2 (osteonidogen)							79	70	73					14																	52535572		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52535572G>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.141C>G	14.37:g.52535572G>C						NID2_ENST00000541773.1_Intron	p.L47L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			1	140	-	Breast(41;0.0639)|all_epithelial(31;0.123)		47					A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.141C>G	CCDS9706.1																																																																																				0.622	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			22	45	0	0	0	1	0	22	45					C	52535572	G	C	52535572	2	2	397	1	0	0	0	0	0	0	0	1	10415	1161	41	4		4	NID2	14	52535572	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		52535572	54813968	38	35286											
SETD3	84193	broad.mit.edu	37	chr14	99871554	99871554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtacgtggggatgccgGcacgagccaagacctcggcc	14	14	0	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:99871554G>A	ENST00000331768.5	-	10	1238	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	360					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGGGATGCCGGCACGAGCCAA	0.428																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1078-1080)gCc>gTc		SET domain containing 3							164	155	158					14																	99871554		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99871554G>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1079C>T	14.37:g.99871554G>A	ENSP00000327436:p.Ala360Val						p.A360V	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			10	1238	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	360					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1079C>T	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737862	0.30774	.	.	ENSG00000183576	ENST00000331768	T	0.17854	2.25	5.54	4.64	0.57946	Rubisco LS methyltransferase, substrate-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.53249	1.67	0.80722	D	1	P	0.45348	0.856	B	0.39094	0.29	T	0.05131	-1.0904	10	0.02654	T	1	-39.7125	14.5575	0.68113	0.0705:0.0:0.9295:0.0	.	360	Q86TU7	SETD3_HUMAN	V	360	ENSP00000327436:A360V	ENSP00000327436:A360V	A	-	2	0	SETD3	98941307	1.000000	0.71417	0.885000	0.34714	0.844000	0.47949	7.527000	0.81931	1.477000	0.48234	0.655000	0.94253	GCC		0.428	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		4	174	0	0	0	1	0	4	174					A	99871554	G	A	99871554	3	1	397	1	0	0	0	0	1	0	0	0	14132	1203	42	2	721	2	SETD3	14	99871554	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	47335982	99871554	7477986	39	35287											
HERC1	8925	broad.mit.edu	37	chr15	63970180	63970180	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaagaccagcatcaactcCtcctatcacagccagcacgg	6	16	3	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr15:63970180C>A	ENST00000443617.2	-	37	7021	c.6934G>T	c.(6934-6936)Gga>Tga	p.G2312*	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	2312					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						GCATCAACTCCTCCTATCACA	0.562																																						ENST00000443617.2																			0				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						c.(6934-6936)Gga>Tga		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							119	126	124					15																	63970180		2123	4242	6365	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970180C>A	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.6934G>T	15.37:g.63970180C>A	ENSP00000390158:p.Gly2312*					RP11-317G6.1_ENST00000559303.2_RNA	p.G2312*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	7021	-			2312					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.6934G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	50	16.267947	0.99859	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.605	0.95577	0.0:1.0:0.0:0.0	.	.	.	.	X	2312	.	ENSP00000390158:G2312X	G	-	1	0	HERC1	61757233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.635000	0.89317	0.655000	0.94253	GGA		0.562	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		27	44	1	0	5.61819e-17	1	6.07127e-17	27	44					A	63970180	C	A	63970180	4	1	397	1	0	0	0	0	0	1	0	0	7057	690	24	4	7819	4	HERC1	15	63970180	Nonsense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		63970180	38561212	40	35288											
ZC3H18	124245	broad.mit.edu	37	chr16	88695241	88695241	+	Frame_Shift_Del	DEL	C	C	-													gccctcctccagccaagcggCccaacacatccccagaccga							TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr16:88695241delC	ENST00000301011.5	+	16	2745	c.2545delC	c.(2545-2547)cccfs	p.P849fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	849						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)		AGCCAAGCGGCCCAACACATC	0.642																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(2545-2547)ccfs		zinc finger CCCH-type containing 18							89	88	88					16																	88695241		2198	4300	6498	SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88695241delC	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.2545delC	16.37:g.88695241delC	ENSP00000301011:p.Pro849fs					ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	p.P849fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	16	2745	+			849					Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	c.2545delC	CCDS10967.1																																																																																				0.642	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		40	83						40	83	---	---	---	---	-	88695241	C	-	88695241	7	5	397	1	0	1	0	1	0	0	0	0	17565	739	26	0	2603	0	ZC3H18	16	88695241	Frame_Shift_Del	DEL	C	TCGA-QH-A6XC-01A-12D-A32B-08		88695241	1659512	41	35289											
SPNS3	201305	broad.mit.edu	37	chr17	4352564	4352564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgaccctcggagtgaccGccatggcctttgtgactgga	14	12	0	2	rs147966930	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:4352564G>A	ENST00000355530.2	+	7	1085	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	269					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						CGGAGTGACCGCCATGGCCTT	0.657													g|||	4	0.000798722	0.0008	0.0	5008	,	,		15626	0.0		0.003	False		,,,				2504	0.0					ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(805-807)Gcc>Acc		spinster homolog 3 (Drosophila)			THR/ALA	1,4405	2.1+/-5.4	0,1,2202	98	88	92		805	3.1	1	17	dbSNP_134	92	9,8591	7.1+/-27.0	0,9,4291	yes	missense	SPNS3	NM_182538.4	58	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	benign	269/513	4352564	10,12996	2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4352564G>A		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.805G>A	17.37:g.4352564G>A	ENSP00000347721:p.Ala269Thr					SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T	p.A269T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			7	1085	+			269					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.805G>A	CCDS11045.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	g	21.4	4.137991	0.77775	2.27E-4	0.001047	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59224	0.28;0.28	5.15	3.06	0.35304	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.112777	0.64402	D	0.000012	T	0.66376	0.2783	M	0.71920	2.185	0.42985	D	0.994474	D;D	0.69078	0.997;0.987	P;P	0.60473	0.875;0.846	T	0.65067	-0.6258	10	0.52906	T	0.07	-14.8186	6.1412	0.20261	0.0867:0.0:0.5745:0.3388	.	142;269	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	T	269;142	ENSP00000347721:A269T;ENSP00000333207:A142T	ENSP00000333207:A142T	A	+	1	0	SPNS3	4299313	0.984000	0.35163	0.997000	0.53966	0.801000	0.45260	1.882000	0.39648	0.608000	0.30000	0.651000	0.88453	GCC		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		19	90	0	0	0	1	0	19	90					A	4352564	G	A	4352564	3	1	397	1	0	0	0	0	1	0	0	0	15075	1087	38	1	831	1	SPNS3	17	4352564	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		4352564	76842646	42	35290											
ZNF594	84622	broad.mit.edu	37	chr17	5085347	5085348	+	Frame_Shift_Del	DEL	AA	AA	-													aaggttttctcacattcttcAagtttctctccagcatgcag					rs371446049		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:5085347_5085348delAA	ENST00000399604.4	-	1	2344_2345	c.2204_2205delTT	c.(2203-2205)cttfs	p.L735fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	735					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						CACATTCTTCAAGTTTCTCTCC	0.426																																						ENST00000399604.4																			0				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						c.(2203-2205)cfs		zinc finger protein 594																																				SO:0001589	frameshift_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085347_5085348delAA	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.2204_2205delTT	17.37:g.5085347_5085348delAA	ENSP00000382513:p.Leu735fs					ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs	p.L735fs			Q96JF6	ZN594_HUMAN			1	2344_2345	-			735					Q6RFS0	Frame_Shift_Del	DEL	ENST00000399604.4	37	c.2204_2205delTT	CCDS42241.1																																																																																				0.426	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		93	156						93	156	---	---	---	---	-	5085348	AA	-	5085347	7	5	397	1	0	1	0	1	0	0	0	0	18021	117	5	0	222	0	ZNF594	17	5085347	Frame_Shift_Del	DEL	AA	TCGA-QH-A6XC-01A-12D-A32B-08	732783	5085347	76109863	43	35291											
DNAH2	146754	broad.mit.edu	37	chr17	7710584	7710584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccagcctgatatcatcGgccgcgtctccctggctgcc	9	17	2	1	rs200910918		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:7710584G>A	ENST00000572933.1	+	62	11019	c.9559G>A	c.(9559-9561)Ggc>Agc	p.G3187S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3187	Stalk. {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)				TGATATCATCGGCCGCGTCTC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16724	0.001		0.0	False		,,,				2504	0.0					ENST00000572933.1																			0				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						c.(9559-9561)Ggc>Agc		dynein, axonemal, heavy chain 2							84	85	85					17																	7710584		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7710584G>A	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.9559G>A	17.37:g.7710584G>A	ENSP00000458355:p.Gly3187Ser					DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S	p.G3187S			Q9P225	DYH2_HUMAN			62	11019	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3187			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9559G>A	CCDS32551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	22.5	4.293162	0.80914	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.73575	-0.76	5.28	5.28	0.74379	Dynein heavy chain, coiled coil stalk (1);	0.123358	0.53938	D	0.000047	T	0.81014	0.4735	L	0.58583	1.82	0.80722	D	1	D;P	0.63046	0.992;0.483	P;B	0.58660	0.843;0.411	T	0.76564	-0.2913	10	0.21540	T	0.41	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	3148;3187	Q9P225-2;Q9P225	.;DYH2_HUMAN	S	3148;3187	ENSP00000373825:G3187S	ENSP00000353818:G3148S	G	+	1	0	DNAH2	7651309	1.000000	0.71417	0.986000	0.45419	0.777000	0.43975	6.810000	0.75216	2.655000	0.90218	0.580000	0.79431	GGC		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		41	65	0	0	0	1	0	41	65					A	7710584	G	A	7710584	3	1	397	1	0	0	0	0	1	0	0	0	4602	1116	39	1	9801	1	DNAH2	17	7710584	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2625237	7710584	73484626	44	35292											
GAS7	8522	broad.mit.edu	37	chr17	9829985	9829985	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgaggcatagcggctggcGagctgcttgcgaaggtcggc	17	11	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:9829985G>A	ENST00000432992.2	-	10	1147	c.987C>T	c.(985-987)ctC>ctT	p.L329L	GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.L269L|GAS7_ENST00000542249.1_Silent_p.L265L|GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000585266.1_Silent_p.L269L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Silent_p.L265L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	329					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCGGCTGGCGAGCTGCTTGC	0.602			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(805-807)ctC>ctT		growth arrest-specific 7							58	55	56					17																	9829985		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9829985G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.987C>T	17.37:g.9829985G>A						GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.L265L|GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000542249.1_Silent_p.L274L|GAS7_ENST00000585266.1_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Silent_p.L281L|GAS7_ENST00000432992.2_Silent_p.L329L	p.L269L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			10	1117	-			329			FCH.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.807C>T	CCDS11152.1																																																																																				0.602	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		19	36	0	0	0	1	0	19	36					A	9829985	G	A	9829985	2	1	397	1	0	0	0	0	0	0	0	1	6250	1045	37	1		1	GAS7	17	9829985	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2119401	9829985	71365225	45	35293											
MYH13	8735	broad.mit.edu	37	chr17	10248578	10248578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtcaatgaactcccactCgatgccttccttcttgtact	6	13	2	1	rs373641414		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:10248578C>T	ENST00000418404.3	-	14	1688	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	MYH13_ENST00000252172.4_Missense_Mutation_p.E509K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	509	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						AACTCCCACTCGATGCCTTCC	0.512																																						ENST00000418404.3																			0				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						c.(1525-1527)Gag>Aag		myosin, heavy chain 13, skeletal muscle		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	196	169	178		1525	3.4	1	17		178	0,8600		0,0,4300	no	missense	MYH13	NM_003802.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	509/1939	10248578	2,13004	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248578C>T	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.1525G>A	17.37:g.10248578C>T	ENSP00000404570:p.Glu509Lys					MYH13_ENST00000570743.1_Missense_Mutation_p.E509K|MYH13_ENST00000252172.4_Missense_Mutation_p.E509K	p.E509K			Q9UKX3	MYH13_HUMAN			14	1688	-			509			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1525G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795500	0.70452	4.54E-4	0.0	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87650	-2.28	4.46	3.41	0.39046	Myosin head, motor domain (2);	.	.	.	.	D	0.87337	0.6152	M	0.76574	2.34	0.38310	D	0.943231	B	0.27068	0.167	B	0.30572	0.117	D	0.89325	0.3643	9	0.72032	D	0.01	.	15.1308	0.72520	0.0:0.8581:0.1419:0.0	.	509	Q9UKX3	MYH13_HUMAN	K	509;184	ENSP00000252172:E509K	ENSP00000252172:E509K	E	-	1	0	MYH13	10189303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.640000	0.61368	2.471000	0.83476	0.655000	0.94253	GAG		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		38	64	0	0	0	1	0	38	64					T	10248578	C	T	10248578	3	4	397	1	0	0	0	0	1	0	0	0	10032	893	31	1	4399	1	MYH13	17	10248578	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	418593	10248578	70946632	46	35294											
CACNA1G	8913	broad.mit.edu	37	chr17	48683269	48683269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtccagctcttcaaagGgaagtttttcgtgtgccagg	13	8	2	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:48683269G>A	ENST00000359106.5	+	23	4307	c.4307G>A	c.(4306-4308)gGg>gAg	p.G1436E	CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1436					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)			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)	CTCTTCAAAGGGAAGTTTTTC	0.567																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4237-4239)gGg>gAg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						29	31	30					17																	48683269		2054	4223	6277	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48683269G>A	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.4307G>A	17.37:g.48683269G>A	ENSP00000352011:p.Gly1436Glu					CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1436E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E	p.G1413E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		22	4610	+	Breast(11;6.7e-17)		1436					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	ENST00000359106.5	37	c.4238G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	31	5.084284	0.94100	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	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;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	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;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;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;D;D;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;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99126	1.0851	10	0.87932	D	0	.	18.9564	0.92659	0.0:0.0:1.0:0.0	.	466;1413;1436;1436;1436;1436;1436;1436;1436;1436;1436;1436;1413;1436;1436;1436;1436;1436;1413;1436;1413;1413;1413;1413;1436;1413;1436	B4DKD3;Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	E	1413;1413;1436;1413;1413;1413;1436;1436;1413;1436;1436;1436;1436;1436;1436;1413;1436;1436;1436;1436;1413;1436;1436;1436;1436;1436;251	ENSP00000353990:G1413E;ENSP00000339302:G1413E;ENSP00000392390:G1436E;ENSP00000347078:G1413E;ENSP00000409759:G1413E;ENSP00000425522:G1413E;ENSP00000426261:G1436E;ENSP00000425451:G1436E;ENSP00000422407:G1413E;ENSP00000426814:G1436E;ENSP00000427238:G1436E;ENSP00000423112:G1436E;ENSP00000420918:G1436E;ENSP00000426172:G1436E;ENSP00000423045:G1436E;ENSP00000427173:G1413E;ENSP00000426098:G1436E;ENSP00000425698:G1436E;ENSP00000426232:G1436E;ENSP00000423317:G1436E;ENSP00000350979:G1413E;ENSP00000352011:G1436E;ENSP00000414388:G1436E;ENSP00000423155:G1436E;ENSP00000422268:G1436E;ENSP00000421518:G1436E;ENSP00000427697:G251E	ENSP00000339302:G1413E	G	+	2	0	CACNA1G	46038268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.479000	0.83701	0.655000	0.94253	GGG		0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		8	28	0	0	0	1	0	8	28					A	48683269	G	A	48683269	3	1	397	1	0	0	0	0	1	0	0	0	2544	1232	43	2	4397	2	CACNA1G	17	48683269	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	38434691	48683269	32511941	47	35295											
STXBP4	252983	broad.mit.edu	37	chr17	53150436	53150439	+	Splice_Site	DEL	AAGT	AAGT	-													tgattattctgaccaaaataAagtaagcaaagcagtcatct							TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:53150436_53150439delAAGT	ENST00000376352.2	+	13	1394_1395	c.1187_1188delAAGT	c.(1186-1188)aaa>a	p.K396fs	STXBP4_ENST00000434978.2_Splice_Site_p.K374fs	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	396					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCAAAATAAAGTAAGCAAAGCA	0.407																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.e13+1		syntaxin binding protein 4																																				SO:0001630	splice_region_variant	252983					cytoplasm	calcium ion binding	g.chr17:53150436_53150439delAAGT	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1188+1AAGT>-	17.37:g.53150436_53150439delAAGT						STXBP4_ENST00000434978.2_Splice_Site_p.374_splice	p.396_splice	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			13	1394_1395	+			396					Q8IVZ5	Splice_Site	DEL	ENST00000376352.2	37	c.1188_splice	CCDS11584.2																																																																																				0.407	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	Frame_Shift_Del	32	38						32	38	---	---	---	---	-	53150439	AAGT	-	53150436	8	5	397	1	0	1	0	1	0	0	1	0	15354	28	1	0	1229	0	STXBP4	17	53150436	Splice_Site	DEL	AAGT	TCGA-QH-A6XC-01A-12D-A32B-08	4467167	53150436	28044774	48	35296											
LAMA1	284217	broad.mit.edu	37	chr18	6985310	6985310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagaccaggtcgactgcgttCctttgggacatgtgcatgac	12	10	0	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:6985310C>A	ENST00000389658.3	-	39	5679	c.5586G>T	c.(5584-5586)agG>agT	p.R1862S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1862	Domain II and I.				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)				CGACTGCGTTCCTTTGGGACA	0.502																																						ENST00000389658.3																			0				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						c.(5584-5586)agG>agT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						199	166	177					18																	6985310		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985310C>A	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.5586G>T	18.37:g.6985310C>A	ENSP00000374309:p.Arg1862Ser						p.R1862S	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5679	-		Colorectal(10;0.172)	1862			Domain II and I.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5586G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	9.887	1.203180	0.22121	.	.	ENSG00000101680	ENST00000389658	T	0.16073	2.37	5.58	-1.96	0.07525	.	0.209821	0.41500	D	0.000873	T	0.12689	0.0308	M	0.69823	2.125	0.26406	N	0.976349	P	0.40144	0.704	B	0.30943	0.122	T	0.42015	-0.9476	10	0.12430	T	0.62	.	11.0006	0.47602	0.0:0.5798:0.0:0.4202	.	1862	P25391	LAMA1_HUMAN	S	1862	ENSP00000374309:R1862S	ENSP00000374309:R1862S	R	-	3	2	LAMA1	6975310	0.052000	0.20516	0.006000	0.13384	0.022000	0.10575	-0.055000	0.11807	-0.353000	0.08224	0.655000	0.94253	AGG		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		26	43	1	0	6.32553e-13	1	6.72715e-13	26	43					A	6985310	C	A	6985310	3	1	397	1	0	0	0	0	1	0	0	0	8605	854	30	4	3741	4	LAMA1	18	6985310	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		6985310	71091938	49	35297											
DSC3	1825	broad.mit.edu	37	chr18	28598767	28598767	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagtacttgtctacaacCtggaaacaaagcaaatattt	6	7	1	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:28598767C>T	ENST00000360428.4	-	8	1023		c.e8-1		DSC3_ENST00000434452.1_Splice_Site	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTACAACCTGGAAACAAA	0.333																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e8-1		desmocollin 3							109	100	103					18																	28598767		2202	4299	6501	SO:0001630	splice_region_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598767C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.943-1G>A	18.37:g.28598767C>T						DSC3_ENST00000360428.4_Splice_Site		NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		8	1097	-								A6NN35|Q14200|Q9HAZ9	Splice_Site	SNP	ENST00000360428.4	37		CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135715	0.77662	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.689	0.91576	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSC3	26852765	1.000000	0.71417	0.996000	0.52242	0.867000	0.49689	6.445000	0.73456	2.739000	0.93911	0.579000	0.79373	.		0.333	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	Intron	16	36	0	0	0	1	0	16	36					T	28598767	C	T	28598767	5	4	397	1	0	0	0	0	0	0	1	0	4767	695	24	2	1815	2	DSC3	18	28598767	Splice_Site	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	21613457	28598767	49478481	50	35298											
DCC	1630	broad.mit.edu	37	chr18	51013239	51013239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcctcccgtctcccacctGtggatatccccacccgcagt	6	19	1	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:51013239G>A	ENST00000442544.2	+	26	4425	c.3809G>A	c.(3808-3810)tGt>tAt	p.C1270Y	DCC_ENST00000581580.1_Missense_Mutation_p.C905Y|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1270					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)		TCTCCCACCTGTGGATATCCC	0.542																																						ENST00000442544.2																			0				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						c.(3808-3810)tGt>tAt		deleted in colorectal carcinoma							122	109	113					18																	51013239		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013239G>A	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.3809G>A	18.37:g.51013239G>A	ENSP00000389140:p.Cys1270Tyr					RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.C905Y	p.C1270Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4425	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1270						Missense_Mutation	SNP	ENST00000442544.2	37	c.3809G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663529	0.47572	.	.	ENSG00000187323	ENST00000442544	T	0.46451	0.87	5.48	5.48	0.80851	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	L	0.51422	1.61	0.58432	D	0.999997	D	0.69078	0.997	D	0.67725	0.953	T	0.59220	-0.7495	10	0.56958	D	0.05	-6.5822	18.1263	0.89586	0.0:0.0:1.0:0.0	.	1270	P43146	DCC_HUMAN	Y	1270	ENSP00000389140:C1270Y	ENSP00000389140:C1270Y	C	+	2	0	DCC	49267237	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.174000	0.89682	2.569000	0.86673	0.563000	0.77884	TGT		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		33	68	0	0	0	1	0	33	68					A	51013239	G	A	51013239	3	1	397	1	0	0	0	0	1	0	0	0	4282	1377	48	2	3911	2	DCC	18	51013239	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	22414472	51013239	27064009	51	35299											
PSG7	5676	broad.mit.edu	37	chr19	43433784	43433784	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtagcttgcatctggAgtctcaggatcacaggttaa	11	9	3	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:43433784A>G	ENST00000406070.2	-	0	615				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTGCATCTGGAGTCTCAGGAT	0.527																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							252	246	248					19																	43433784		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433784A>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433784A>G						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	615	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		98	230	0	0	0	1	0	98	230					G	43433784	A	G	43433784	1	3	397	0	1	0	0	0	0	0	0	0	12660	291	11	3		3	PSG7	19	43433784	RNA	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08		43433784	15695199	52	35300											
KLK5	25818	broad.mit.edu	37	chr19	51453167	51453167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcaccaacaccgccccGcagtagagctggttgggcct	13	14	0	1	rs201029495		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:51453167G>A	ENST00000336334.3	-	3	631	c.279C>T	c.(277-279)tgC>tgT	p.C93C	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.C93C|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.C93C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	93	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACACCGCCCCGCAGTAGAGCT	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		8732	0.0		0.0	False		,,,				2504	0.0					ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(277-279)tgC>tgT		kallikrein-related peptidase 5							45	39	41					19																	51453167		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453167G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.279C>T	19.37:g.51453167G>A						KLK5_ENST00000391809.2_Silent_p.C93C|KLK5_ENST00000593428.1_Silent_p.C93C	p.C93C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	3	631	-		all_neural(266;0.026)	93			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.279C>T	CCDS12810.1																																																																																				0.627	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		16	30	0	0	0	1	0	16	30					A	51453167	G	A	51453167	2	1	397	1	0	0	0	0	0	0	0	1	8407	1079	38	1		1	KLK5	19	51453167	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	8019383	51453167	7675816	53	35301											
USP29	57663	broad.mit.edu	37	chr19	57642572	57642572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcaggccattacatcagCgatgtgtatgactttcagaa	8	8	3	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:57642572C>T	ENST00000254181.4	+	4	2983	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	USP29_ENST00000598197.1_Silent_p.S843S|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	843	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTACATCAGCGATGTGTATG	0.483																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2527-2529)agC>agT		ubiquitin specific peptidase 29							84	75	78					19																	57642572		2203	4300	6503	SO:0001819	synonymous_variant	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642572C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2529C>T	19.37:g.57642572C>T						USP29_ENST00000598197.1_Silent_p.S843S	p.S843S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2983	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	843						Silent	SNP	ENST00000254181.4	37	c.2529C>T	CCDS33124.1																																																																																				0.483	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			26	35	0	0	0	1	0	26	35					T	57642572	C	T	57642572	2	4	397	1	0	0	0	0	0	0	0	1	17056	767	27	1		1	USP29	19	57642572	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	6189405	57642572	1486411	54	35302											
TGM6	343641	broad.mit.edu	37	chr20	2375141	2375141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcggtcgaggaatggCgctgcccaccacacccagga	14	14	0	0	rs147506152		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		17602	0.0		0.001	False		,,,				2504	0.0					ENST00000202625.2																			1	Substitution - coding silent(1)	p.G17G(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(49-51)ggC>ggT		transglutaminase 6	L-Glutamine(DB00130)						43	40	41					20																	2375141		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375141C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.51C>T	20.37:g.2375141C>T						TGM6_ENST00000381423.1_Silent_p.G17G|TGM6_ENST00000477505.1_3'UTR	p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			2	112	+			17					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.51C>T	CCDS13025.1																																																																																				0.647	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		20	19	0	0	0	1	0	20	19					T	2375141	C	T	2375141	2	4	397	1	0	0	0	0	0	0	0	1	15831	755	27	1		1	TGM6	20	2375141	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		2375141	60650379	55	35303											
MEI1	150365	broad.mit.edu	37	chr22	42166858	42166858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgggaagagagcagctatGaggaactggatgatgtcacc	14	7	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:42166858G>A	ENST00000401548.3	+	20	2477	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MEI1_ENST00000400107.1_Missense_Mutation_p.E181K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.E131K	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						GAGCAGCTATGAGGAACTGGA	0.542																																						ENST00000401548.3																			0				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						c.(2437-2439)Gag>Aag		meiosis inhibitor 1							127	123	124					22																	42166858		2013	4175	6188	SO:0001583	missense	150365						binding	g.chr22:42166858G>A	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.2437G>A	22.37:g.42166858G>A	ENSP00000384115:p.Glu813Lys					MEI1_ENST00000540880.1_Missense_Mutation_p.E131K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.E181K	p.E813K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			20	2477	+			813						Missense_Mutation	SNP	ENST00000401548.3	37	c.2437G>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035639	0.35893	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.44482	1.95;1.95;0.92	4.99	2.65	0.31530	.	0.569519	0.19134	N	0.121846	T	0.29783	0.0744	L	0.54323	1.7	0.19575	N	0.999965	P;B;P;P	0.43938	0.458;0.386;0.822;0.642	B;B;B;B	0.35039	0.137;0.085;0.194;0.14	T	0.30387	-0.9980	10	0.56958	D	0.05	-4.3577	4.7339	0.12979	0.2015:0.2362:0.5623:0.0	.	181;56;181;813	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	K	813;181;131	ENSP00000384115:E813K;ENSP00000382978:E181K;ENSP00000437436:E131K	ENSP00000382978:E181K	E	+	1	0	MEI1	40496804	0.998000	0.40836	0.655000	0.29622	0.974000	0.67602	2.790000	0.47821	1.236000	0.43740	0.655000	0.94253	GAG		0.542	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		23	43	0	0	0	1	0	23	43					A	42166858	G	A	42166858	3	1	397	1	0	0	0	0	1	0	0	0	9465	1291	45	2	2515	2	MEI1	22	42166858	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		42166858	9137708	56	35304											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189507	47189507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcctgggacgctggggagGacgacgatgagctcctggcc	17	11	0	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:47189507G>A	ENST00000337137.4	+	3	395	c.229G>A	c.(229-231)Gac>Aac	p.D77N	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	77							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCTGGGGAGGACGACGATGA	0.637																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(229-231)Gac>Aac		TBC1 domain family, member 22A							66	59	61					22																	47189507		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189507G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.229G>A	22.37:g.47189507G>A	ENSP00000336724:p.Asp77Asn					TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N	p.D77N	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	395	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	77					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.229G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288803	0.80914	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.52983	1.58;0.64;1.51;1.31;1.63	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.65975	2.015	0.58432	D	0.999999	D;D;P;D	0.63046	0.984;0.992;0.928;0.984	P;P;P;P	0.62885	0.811;0.908;0.742;0.811	T	0.66941	-0.5796	10	0.54805	T	0.06	-8.7774	16.7435	0.85466	0.0:0.0:1.0:0.0	.	77;58;77;77	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	N	77;30;77;58;30	ENSP00000336724:D77N;ENSP00000370383:D30N;ENSP00000384036:D77N;ENSP00000347932:D58N;ENSP00000385634:D30N	ENSP00000336724:D77N	D	+	1	0	TBC1D22A	45568171	1.000000	0.71417	0.063000	0.19743	0.339000	0.28857	8.844000	0.92147	2.591000	0.87537	0.609000	0.83330	GAC		0.637	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		17	28	0	0	0	1	0	17	28					A	47189507	G	A	47189507	3	1	397	1	0	0	0	0	1	0	0	0	15608	1174	41	2	239	2	TBC1D22A	22	47189507	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	5022649	47189507	4115059	57	35305											
PLCXD1	55344	broad.mit.edu	37	chrX	209794	209794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgccggcaccacgagctGtggccaggagtcccctactg	13	15	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:209794G>A	ENST00000381657.2	+	6	1156	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	214					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	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)				ACCACGAGCTGTGGCCAGGAG	0.637																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(640-642)ctG>ctA		phosphatidylinositol-specific phospholipase C, X domain containing 1							97	90	92					X																	209794		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:209794G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.642G>A	X.37:g.209794G>A						PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			6	1156	+		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)	214					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.642G>A	CCDS14103.1																																																																																				0.637	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		19	31	0	0	0	1	0	19	31					A	209794	G	A	209794	2	1	397	1	0	0	0	0	0	0	0	1	12041	1364	48	2		2	PLCXD1	23	209794	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		209794	155060766	58	35306											
DCAF8L2	347442	broad.mit.edu	37	chrX	27765735	27765735	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactttaaccagcgtggcacCcggctggccagtagcggtga	13	13	0	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:27765735C>G	ENST00000451261.2	+	5	1122	c.723C>G	c.(721-723)acC>acG	p.T241T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	241										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGCGTGGCACCCGGCTGGCCA	0.532																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(721-723)acC>acG		DDB1 and CUL4 associated factor 8-like 2							95	72	79					X																	27765735		692	1591	2283	SO:0001819	synonymous_variant	347442							g.chrX:27765735C>G		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.723C>G	X.37:g.27765735C>G							p.T241T	NM_001136533.1	NP_001130005.1					5	1122	+								B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	c.723C>G	CCDS59162.1																																																																																				0.532	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		9	3	0	0	0	1	0	9	3					G	27765735	C	G	27765735	2	3	397	1	0	0	0	0	0	0	0	1	4278	610	22	4		4	DCAF8L2	23	27765735	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	27555941	27765735	127504825	59	35307											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	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	119	Poly-Glu.				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						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				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						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	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.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	10						5	10	---	---	---	---	-	47030563	GGA	-	47030561	7	5	397	1	0	1	0	1	0	0	0	0	13111	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-QH-A6XC-01A-12D-A32B-08	19264826	47030561	108239999	60	35308											
FUBP1	8880	broad.mit.edu	37	chr1	78444659	78444659	+	Frame_Shift_Del	DEL	G	G	-													ccaccagctgagccagaagaGgggggaggcactgttgaata							TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:78444659delG	ENST00000370768.2	-	1	111	c.30delC	c.(28-30)cccfs	p.P10fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	10					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCCAGAAGAGGGGGGAGGCA	0.557			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(28-30)ccfs		far upstream element (FUSE) binding protein 1							37	42	40					1																	78444659		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444659delG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.30delC	1.37:g.78444659delG	ENSP00000359804:p.Pro10fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.P10fs	p.P10fs			Q96AE4	FUBP1_HUMAN			1	117	-			10					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.30delC	CCDS683.1																																																																																				0.557	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	12						9	12	---	---	---	---	-	78444659	G	-	78444659	7	5	398	1	0	1	0	1	0	0	0	0	6092	987	35	0	1984	0	FUBP1	1	78444659	Frame_Shift_Del	DEL	G	TCGA-QH-A86X-01A-11D-A36O-08		78444659	170805962	1	35309											
LCE2B	26239	broad.mit.edu	37	chr1	152659435	152659435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccccagtgcccagctcCatgttcccctgcagtctctt	7	19	1	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:152659435C>T	ENST00000368780.3	+	2	170	c.116C>T	c.(115-117)cCa>cTa	p.P39L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P39L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	39	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCAGCTCCATGTTCCCCT	0.622																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(115-117)cCa>cTa		late cornified envelope 2B							146	151	149					1																	152659435		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659435C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.116C>T	1.37:g.152659435C>T	ENSP00000357769:p.Pro39Leu					LCE2B_ENST00000417924.2_Missense_Mutation_p.P39L	p.P39L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	170	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			Cys-rich.|Pro-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.116C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.323675	0.01309	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03607	3.87;3.87	2.11	-0.333	0.12671	.	.	.	.	.	T	0.00845	0.0028	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47586	-0.9106	9	0.87932	D	0	.	2.8171	0.05459	0.2664:0.5558:0.0:0.1779	.	39	O14633	LCE2B_HUMAN	L	39	ENSP00000414043:P39L;ENSP00000357769:P39L	ENSP00000357769:P39L	P	+	2	0	LCE2B	150926059	0.063000	0.20901	0.003000	0.11579	0.054000	0.15201	1.336000	0.33850	-0.245000	0.09625	0.313000	0.20887	CCA		0.622	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		8	175	0	0	0	1	0	8	175					T	152659435	C	T	152659435	3	4	398	1	0	0	0	0	1	0	0	0	8666	594	21	2	118	2	LCE2B	1	152659435	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	74214776	152659435	96591186	2	35310											
LMNA	4000	broad.mit.edu	37	chr1	156105907	156105907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcttggagggcgaggaGgagaggtgggctggggagac	22	5	1	2			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:156105907G>A	ENST00000368300.4	+	6	1364	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	LMNA_ENST00000392353.3_Silent_p.E303E|LMNA_ENST00000347559.2_Silent_p.E384E|LMNA_ENST00000473598.2_Silent_p.E285E|LMNA_ENST00000448611.2_Silent_p.E272E|LMNA_ENST00000368297.1_Silent_p.E303E|LMNA_ENST00000368301.2_Silent_p.E384E|LMNA_ENST00000361308.4_Silent_p.E384E|LMNA_ENST00000368299.3_Silent_p.E384E|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	384	Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGGCGAGGAGGAGAGGTGGG	0.642									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1150-1152)gaG>gaA		lamin A/C							50	43	45					1																	156105907		2203	4300	6503	SO:0001819	synonymous_variant	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156105907G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1152G>A	1.37:g.156105907G>A						LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Silent_p.E303E|LMNA_ENST00000473598.2_Silent_p.E285E|LMNA_ENST00000448611.2_Silent_p.E272E|LMNA_ENST00000392353.3_Silent_p.E303E|LMNA_ENST00000368299.3_Silent_p.E384E|LMNA_ENST00000368301.2_Silent_p.E384E|LMNA_ENST00000361308.4_Silent_p.E384E|LMNA_ENST00000347559.2_Silent_p.E384E	p.E384E	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			6	1364	+	Hepatocellular(266;0.158)		384			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.1152G>A	CCDS1129.1																																																																																				0.642	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		8	21	0	0	0	1	0	8	21					A	156105907	G	A	156105907	2	1	398	1	0	0	0	0	0	0	0	1	8848	991	35	2		2	LMNA	1	156105907	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	3446472	156105907	93144714	3	35311											
PKP1	5317	broad.mit.edu	37	chr1	201291189	201291189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctaccgccagctggaGtataacgcccgcaacgccta	9	17	0	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:201291189G>A	ENST00000352845.3	+	9	1494	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	PKP1_ENST00000367324.3_Silent_p.E477E|PKP1_ENST00000263946.3_Silent_p.E498E			Q13835	PKP1_HUMAN	plakophilin 1	498					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCAGCTGGAGTATAACGCCC	0.607																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1492-1494)gaG>gaA		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							120	95	104					1																	201291189		2203	4300	6503	SO:0001819	synonymous_variant	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201291189G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1494G>A	1.37:g.201291189G>A						PKP1_ENST00000367324.3_Silent_p.E477E|PKP1_ENST00000352845.3_Silent_p.E498E	p.E498E	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			9	1745	+			498					O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	c.1494G>A	CCDS30966.1																																																																																				0.607	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		6	19	0	0	0	1	0	6	19					A	201291189	G	A	201291189	2	1	398	1	0	0	0	0	0	0	0	1	11984	1020	36	2		2	PKP1	1	201291189	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	45185282	201291189	47959432	4	35312											
APOB	338	broad.mit.edu	37	chr2	21245798	21245798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctccagacccgactcGtggaagaagttggtgttcat	12	10	1	3	rs72653068		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:21245798G>A	ENST00000233242.1	-	18	2848	c.2721C>T	c.(2719-2721)caC>caT	p.H907H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	907	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)					GACCCGACTCGTGGAAGAAGT	0.507																																						ENST00000233242.1																			0				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						c.(2719-2721)caC>caT		apolipoprotein B	Atorvastatin(DB01076)						89	83	85					2																	21245798		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245798G>A	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.2721C>T	2.37:g.21245798G>A							p.H907H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2848	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		907			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2721C>T	CCDS1703.1																																																																																				0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	15	0	0	0	1	0	8	15					A	21245798	G	A	21245798	2	1	398	1	0	0	0	0	0	0	0	1	785	1136	40	1		1	APOB	2	21245798	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		21245798	221953575	5	35313											
UBR3	130507	broad.mit.edu	37	chr2	170937133	170937133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatcattcgaggtcacCgcttctgcctctggggttcc	9	13	5	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:170937133C>T	ENST00000272793.5	+	38	5538	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	UBR3_ENST00000392631.1_Missense_Mutation_p.R651C|UBR3_ENST00000418381.1_Missense_Mutation_p.R1830C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1830					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						TCGAGGTCACCGCTTCTGCCT	0.398																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5488-5490)Cgc>Tgc		ubiquitin protein ligase E3 component n-recognin 3 (putative)							141	131	135					2																	170937133		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170937133C>T	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.5488C>T	2.37:g.170937133C>T	ENSP00000272793:p.Arg1830Cys					UBR3_ENST00000418381.1_Missense_Mutation_p.R1830C|UBR3_ENST00000392631.1_Missense_Mutation_p.R651C	p.R1830C			Q6ZT12	UBR3_HUMAN			38	5538	+			1830					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5488C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.236518	0.95240	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.982	T	0.79692	-0.1697	10	0.51188	T	0.08	.	19.5215	0.95187	0.0:1.0:0.0:0.0	.	1830;651;1859	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	C	1830;1859;1830;651;530	ENSP00000272793:R1830C;ENSP00000396068:R1830C;ENSP00000376408:R651C;ENSP00000389097:R530C	ENSP00000272793:R1830C	R	+	1	0	UBR3	170645379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.585000	0.87301	0.650000	0.86243	CGC		0.398	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		22	22	0	0	0	1	0	22	22					T	170937133	C	T	170937133	3	4	398	1	0	0	0	0	1	0	0	0	16900	652	23	1	5638	1	UBR3	2	170937133	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	149691335	170937133	72262240	6	35314											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	37	0	0	0	1	0	25	37					T	209113112	C	T	209113112	3	4	398	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	38175979	209113112	34086261	7	35315											
IRAK2	3656	broad.mit.edu	37	chr3	10255186	10255186	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacagcctgttcaagtccaGgatcaatcgaaagattcttc	8	10	3	2			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:10255186G>T	ENST00000256458.4	+	6	832	c.742G>T	c.(742-744)Gga>Tga	p.G248*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TTCAAGTCCAGGATCAATCGA	0.463																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(742-744)Gga>Tga		interleukin-1 receptor-associated kinase 2							124	119	121					3																	10255186		2203	4300	6503	SO:0001587	stop_gained	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10255186G>T	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.742G>T	3.37:g.10255186G>T	ENSP00000256458:p.Gly248*						p.G248*	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			6	832	+			248			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Nonsense_Mutation	SNP	ENST00000256458.4	37	c.742G>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048556	0.93740	.	.	ENSG00000134070	ENST00000256458	.	.	.	5.66	1.71	0.24356	.	0.927576	0.09119	N	0.845974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.2581	4.2502	0.10691	0.2723:0.1695:0.5582:0.0	.	.	.	.	X	248	.	ENSP00000256458:G248X	G	+	1	0	IRAK2	10230186	0.000000	0.05858	0.002000	0.10522	0.277000	0.26821	0.396000	0.20867	0.859000	0.35456	0.655000	0.94253	GGA		0.463	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			7	55	1	0	8.12818e-05	1	8.91478e-05	7	55					T	10255186	G	T	10255186	4	4	398	1	0	0	0	0	0	1	0	0	7823	1001	35	4	764	4	IRAK2	3	10255186	Nonsense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		10255186	187767244	8	35316											
SI	6476	broad.mit.edu	37	chr3	164781241	164781241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcttacccattgcattgCtattcattaaaaaaacaccg	3	10	2	0	rs367672931		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:164781241C>T	ENST00000264382.3	-	8	958	c.896G>A	c.(895-897)aGc>aAc	p.S299N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	299	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)	CATTGCATTGCTATTCATTAA	0.264										HNSCC(35;0.089)																												ENST00000264382.3																			0				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						c.(895-897)aGc>aAc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)	C	ASN/SER	0,4350		0,0,2175	41	49	46		896	5.2	1	3		46	1,8471		0,1,4235	no	missense	SI	NM_001041.3	46	0,1,6410	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	299/1828	164781241	1,12821	2175	4236	6411	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164781241C>T	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.896G>A	3.37:g.164781241C>T	ENSP00000264382:p.Ser299Asn	HNSCC(35;0.089)					p.S299N	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			8	958	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	299			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.896G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304091	0.81136	0.0	1.18E-4	ENSG00000090402	ENST00000264382	D	0.87256	-2.23	5.2	5.2	0.72013	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94066	0.8098	H	0.98951	4.38	0.54753	D	0.999985	D	0.53312	0.959	P	0.45660	0.489	D	0.96444	0.9329	10	0.72032	D	0.01	.	18.7427	0.91780	0.0:1.0:0.0:0.0	.	299	P14410	SUIS_HUMAN	N	299	ENSP00000264382:S299N	ENSP00000264382:S299N	S	-	2	0	SI	166263935	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.010000	0.76353	2.441000	0.82636	0.585000	0.79938	AGC		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	56	0	0	0	1	0	17	56					T	164781241	C	T	164781241	3	4	398	1	0	0	0	0	1	0	0	0	14297	797	28	2	4751	2	SI	3	164781241	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	154526055	164781241	33241189	9	35317											
PRDM8	56978	broad.mit.edu	37	chr4	81122620	81122620	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttactagtttggtacgggaaAgaactgactgagttactctt	10	6	1	3			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr4:81122620A>T	ENST00000504452.1	+	7	1235	c.396A>T	c.(394-396)aaA>aaT	p.K132N	PRDM8_ENST00000339711.4_Missense_Mutation_p.K132N|PRDM8_ENST00000415738.2_Missense_Mutation_p.K132N			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	132					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGTACGGGAAAGAACTGACTG	0.517											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(394-396)aaA>aaT		PR domain containing 8							71	75	74					4																	81122620		1942	4148	6090	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81122620A>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.396A>T	4.37:g.81122620A>T	ENSP00000423985:p.Lys132Asn		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.K132N|PRDM8_ENST00000504452.1_Missense_Mutation_p.K132N	p.K132N	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			9	1627	+			132			SET.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.396A>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461759	0.43736	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.98	3.55	0.40652	SET domain (1);	0.049163	0.85682	D	0.000000	T	0.74191	0.3684	N	0.04297	-0.235	0.52501	D	0.999951	D	0.57257	0.979	P	0.52554	0.702	T	0.72818	-0.4178	10	0.36615	T	0.2	.	7.6316	0.28243	0.6755:0.0:0.3245:0.0	.	132	Q9NQV8	PRDM8_HUMAN	N	132	ENSP00000423985:K132N;ENSP00000425149:K132N;ENSP00000339764:K132N;ENSP00000406998:K132N	ENSP00000339764:K132N	K	+	3	2	PRDM8	81341644	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	0.753000	0.26376	1.099000	0.41499	-0.353000	0.07706	AAA		0.517	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			12	40	0	0	0	1	0	12	40					T	81122620	A	T	81122620	3	4	398	1	0	0	0	0	1	0	0	0	12462	69	3	5	402	5	PRDM8	4	81122620	Missense_Mutation	SNP	A	TCGA-QH-A86X-01A-11D-A36O-08		81122620	110031656	10	35318											
DHX29	54505	broad.mit.edu	37	chr5	54577289	54577289	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtacaatagagtaaccTggtagattcacaagctcgag	10	7	1	2			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:54577289T>C	ENST00000251636.5	-	12	2168	c.2020A>G	c.(2020-2022)Agg>Ggg	p.R674G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	674	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGAGTAACCTGGTAGATTCA	0.388																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2020-2022)Agg>Ggg		DEAH (Asp-Glu-Ala-His) box polypeptide 29							105	97	100					5																	54577289		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54577289T>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2020A>G	5.37:g.54577289T>C	ENSP00000251636:p.Arg674Gly					RP11-506H20.1_ENST00000506435.1_RNA	p.R674G	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			12	2168	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	674			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2020A>G	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005233	0.74932	.	.	ENSG00000067248	ENST00000251636	T	0.07688	3.17	5.52	1.49	0.22878	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.041350	0.85682	D	0.000000	T	0.37999	0.1024	H	0.95043	3.615	0.51012	D	0.999907	D	0.89917	1.0	D	0.81914	0.995	T	0.53315	-0.8456	10	0.87932	D	0	.	13.3321	0.60495	0.0:0.0:0.3739:0.6261	.	674	Q7Z478	DHX29_HUMAN	G	674	ENSP00000251636:R674G	ENSP00000251636:R674G	R	-	1	2	DHX29	54613046	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	2.098000	0.41757	0.065000	0.16485	0.533000	0.62120	AGG		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		11	33	0	0	0	1	0	11	33					C	54577289	T	C	54577289	3	2	398	1	0	0	0	0	1	0	0	0	4503	1579	55	3	2153	3	DHX29	5	54577289	Missense_Mutation	SNP	T	TCGA-QH-A86X-01A-11D-A36O-08		54577289	126337971	11	35319											
POLK	51426	broad.mit.edu	37	chr5	74892057	74892057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttaggtgttcggatAtctagttttcccaatgaaga	8	5	1	2			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:74892057A>G	ENST00000241436.4	+	13	1711	c.1539A>G	c.(1537-1539)atA>atG	p.I513M	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.I315M|POLK_ENST00000508526.1_Missense_Mutation_p.I315M|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000380481.3_Missense_Mutation_p.I423M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	513					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)		GTGTTCGGATATCTAGTTTTC	0.378								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1537-1539)atA>atG	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							49	52	51					5																	74892057		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892057A>G	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.1539A>G	5.37:g.74892057A>G	ENSP00000241436:p.Ile513Met					POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.I423M|POLK_ENST00000352007.5_Missense_Mutation_p.I315M|POLK_ENST00000508526.1_Missense_Mutation_p.I315M	p.I513M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1711	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	513					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1539A>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347875	0.24426	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58060	1.23;0.36;0.36;1.23	5.56	-7.82	0.01205	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (1);	0.599764	0.18880	N	0.128598	T	0.19208	0.0461	N	0.08118	0	0.24595	N	0.993801	B;B	0.26602	0.063;0.154	B;B	0.23852	0.022;0.049	T	0.13899	-1.0492	10	0.23891	T	0.37	-3.9572	4.3254	0.11038	0.2024:0.2921:0.4027:0.1028	.	315;513	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	M	513;315;315;423	ENSP00000241436:I513M;ENSP00000342256:I315M;ENSP00000426853:I315M;ENSP00000369848:I423M	ENSP00000241436:I513M	I	+	3	3	POLK	74927813	0.002000	0.14202	0.098000	0.21074	0.997000	0.91878	-1.345000	0.02637	-0.910000	0.03847	0.533000	0.62120	ATA		0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		7	28	0	0	0	1	0	7	28					G	74892057	A	G	74892057	3	3	398	1	0	0	0	0	1	0	0	0	12204	439	16	3	1585	3	POLK	5	74892057	Missense_Mutation	SNP	A	TCGA-QH-A86X-01A-11D-A36O-08	20314768	74892057	106023203	12	35320											
XPA	7507	broad.mit.edu	37	chr9	100459557	100459557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgcctccggcaaagcCccgtcggccgccgccatctc	11	22	1	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr9:100459557C>T	ENST00000375128.4	-	1	82	c.18G>A	c.(16-18)ggG>ggA	p.G6G	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	6	Interaction with CEP164 and required for UV resistance.				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)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCGGCAAAGCCCCGTCGGCCG	0.731			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group A"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(16-18)ggG>ggA	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							12	16	15					9																	100459557		1863	3871	5734	SO:0001819	synonymous_variant	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459557C>T	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.18G>A	9.37:g.100459557C>T							p.G6G	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			1	82	-		Acute lymphoblastic leukemia(62;0.158)	6			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Silent	SNP	ENST00000375128.4	37	c.18G>A	CCDS6729.1																																																																																				0.731	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		6	22	0	0	0	1	0	6	22					T	100459557	C	T	100459557	2	4	398	1	0	0	0	0	0	0	0	1	17437	610	22	2		2	XPA	9	100459557	Silent	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08		100459557	40753874	13	35321											
KRT75	9119	broad.mit.edu	37	chr12	52822482	52822482	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctcttgtttggtgtttcGaaggtcatccccatgtctgc	10	10	3	0	rs151328629		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr12:52822482G>A	ENST00000252245.5	-	6	1301	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	361	Coil 2.|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)		TTGGTGTTTCGAAGGTCATCC	0.532																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1081-1083)Cga>Tga		keratin 75		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	191	155	167		1081	5.4	1	12	dbSNP_134	167	8,8592	6.4+/-24.3	0,8,4292	yes	stop-gained	KRT75	NM_004693.2		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		361/552	52822482	9,12997	2203	4300	6503	SO:0001587	stop_gained	9119					keratin filament	structural molecule activity	g.chr12:52822482G>A	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.1081C>T	12.37:g.52822482G>A	ENSP00000252245:p.Arg361*						p.R361*	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	6	1301	-			361			Coil 2.|Rod.		B4DQU4|Q9NSA9	Nonsense_Mutation	SNP	ENST00000252245.5	37	c.1081C>T	CCDS8827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.845388	0.97016	2.27E-4	9.3E-4	ENSG00000170454	ENST00000252245	.	.	.	5.42	5.42	0.78866	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4018	0.60887	0.0:0.0:0.7232:0.2768	.	.	.	.	X	361	.	ENSP00000252245:R361X	R	-	1	2	KRT75	51108749	0.778000	0.28640	1.000000	0.80357	0.563000	0.35712	4.027000	0.57239	2.544000	0.85801	0.561000	0.74099	CGA		0.532	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		7	43	0	0	0	1	0	7	43					A	52822482	G	A	52822482	4	1	398	1	0	0	0	0	0	1	0	0	8488	1066	37	1	590	1	KRT75	12	52822482	Nonsense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		52822482	81029413	14	35322											
WDR90	197335	broad.mit.edu	37	chr16	705148	705148	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttttttgatgaaaccagGtgatgcagccgcccatccac	8	13	0	3			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:705148G>A	ENST00000293879.4	+	14	1556		c.e14+1		WDR90_ENST00000549091.1_Splice_Site|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATGAAACCAGGTGATGCAGCC	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.e14+1		WD repeat domain 90							48	54	52					16																	705148		2034	4169	6203	SO:0001630	splice_region_variant	197335							g.chr16:705148G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1556+1G>A	16.37:g.705148G>A						WDR90_ENST00000293879.4_Splice_Site|LA16c-349E10.1_ENST00000573609.1_RNA		NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			14	1648	+		Hepatocellular(780;0.0218)						Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Splice_Site	SNP	ENST00000293879.4	37		CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098584	0.37048	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR90	645149	1.000000	0.71417	0.993000	0.49108	0.402000	0.30811	9.264000	0.95635	2.098000	0.63641	0.561000	0.74099	.		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	Intron	7	48	0	0	0	1	0	7	48					A	705148	G	A	705148	5	1	398	1	0	0	0	0	0	0	1	0	17334	1275	44	2	1611	2	WDR90	16	705148	Splice_Site	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		705148	89649605	15	35323											
MPV17L	255027	broad.mit.edu	37	chr16	15501855	15501855	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctggagtctgtggttttctCtgggccaccttcatctgttt	11	10	4	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:15501855C>G	ENST00000396385.3	+	4	596	c.477C>G	c.(475-477)ctC>ctG	p.L159L	MPV17L_ENST00000287594.7_Missense_Mutation_p.L136V|RP11-1021N1.1_ENST00000568222.1_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	159					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						GTGGTTTTCTCTGGGCCACCT	0.502																																						ENST00000287594.6																			0				kidney(2)|large_intestine(1)|skin(1)	4						c.(406-408)Ctg>Gtg		MPV17 mitochondrial membrane protein-like							65	57	60					16																	15501855		2197	4300	6497	SO:0001819	synonymous_variant	255027					integral to membrane|peroxisomal membrane		g.chr16:15501855C>G	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.477C>G	16.37:g.15501855C>G						RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000396385.3_Silent_p.L159L	p.L136V	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN			3	550	+			0					B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	c.406C>G	CCDS45421.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.356176	0.41700	.	.	ENSG00000156968	ENST00000287594	D	0.93076	-3.16	5.29	2.22	0.28083	.	0.435897	0.19479	U	0.113245	D	0.87958	0.6309	.	.	.	0.80722	D	1	B	0.24043	0.096	B	0.25884	0.064	T	0.78540	-0.2165	9	0.23302	T	0.38	-9.8577	10.4531	0.44535	0.0:0.758:0.1561:0.0859	.	136	Q2QL34-2	.	V	136	ENSP00000287594:L136V	ENSP00000287594:L136V	L	+	1	2	MPV17L	15409356	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	0.925000	0.28791	0.217000	0.20800	-0.373000	0.07131	CTG		0.502	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		3	60	0	0	0	1	0	3	60					G	15501855	C	G	15501855	2	3	398	1	0	0	0	0	0	0	0	1	9746	912	32	4		4	MPV17L	16	15501855	Silent	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	14796707	15501855	74852898	16	35324											
ACSM2B	348158	broad.mit.edu	37	chr16	20556560	20556560	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgccggggggcaggacGttgcccttatcatctataac	12	11	3	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:20556560G>C	ENST00000329697.6	-	10	1368	c.1200C>G	c.(1198-1200)aaC>aaG	p.N400K	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.N321K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	400					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGGACGTTGCCCTTAT	0.507																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1198-1200)aaC>aaG		acyl-CoA synthetase medium-chain family member 2B							116	96	103					16																	20556560		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556560G>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1200C>G	16.37:g.20556560G>C	ENSP00000327453:p.Asn400Lys					ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.N321K	p.N400K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1368	-			400					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1200C>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	2.572	-0.299361	0.05532	.	.	ENSG00000066813	ENST00000329697	T	0.39787	1.06	3.38	-3.81	0.04294	AMP-dependent synthetase/ligase (1);	0.589296	0.15060	N	0.282819	T	0.27489	0.0675	L	0.28776	0.89	0.09310	N	1	B;B	0.27853	0.191;0.191	B;B	0.33339	0.162;0.162	T	0.19484	-1.0304	10	0.33141	T	0.24	-3.5136	9.1392	0.36892	0.5302:0.0:0.4698:0.0	.	400;400	A8K051;Q68CK6	.;ACS2B_HUMAN	K	400	ENSP00000327453:N400K	ENSP00000327453:N400K	N	-	3	2	ACSM2B	20464061	0.001000	0.12720	0.007000	0.13788	0.002000	0.02628	-0.106000	0.10890	-1.198000	0.02669	-0.332000	0.08345	AAC		0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		23	26	0	0	0	1	0	23	26					C	20556560	G	C	20556560	3	2	398	1	0	0	0	0	1	0	0	0	184	1136	40	4	553	4	ACSM2B	16	20556560	Missense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	5054705	20556560	69798193	17	35325											
PHLPP2	23035	broad.mit.edu	37	chr16	71689222	71689222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctaaaagcacatctgCcatcgtacactgcagcaggc	7	14	3	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:71689222C>T	ENST00000568954.1	-	17	2884	c.2506G>A	c.(2506-2508)Gca>Aca	p.A836T	PHLPP2_ENST00000540628.1_Missense_Mutation_p.A46T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A871T|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.A769T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	836	PP2C-like.				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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGCACATCTGCCATCGTACAC	0.488																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2305-2307)Gca>Aca		PH domain and leucine rich repeat protein phosphatase 2							227	212	217					16																	71689222		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71689222C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	29149	protein-coding gene	gene with protein product		611066	"PH domain and leucine rich repeat protein phosphatase-like"	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2506G>A	16.37:g.71689222C>T	ENSP00000457991:p.Ala836Thr					PHLPP2_ENST00000568954.1_Missense_Mutation_p.A836T|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_Missense_Mutation_p.A46T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A871T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A836T	p.A769T			Q6ZVD8	PHLP2_HUMAN			15	3038	-			836					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2305G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264389	0.80358	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.57	5.57	0.84162	Protein phosphatase 2C-like (3);	0.051283	0.85682	D	0.000000	T	0.20780	0.0500	L	0.31926	0.97	0.58432	D	0.999998	D;D	0.61080	0.989;0.989	P;P	0.62560	0.883;0.904	T	0.02505	-1.1149	10	0.20046	T	0.44	-14.0376	18.5413	0.91029	0.0:1.0:0.0:0.0	.	769;836	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	46;643;836;836;769	ENSP00000445781:A46T;ENSP00000353610:A836T;ENSP00000348611:A836T;ENSP00000377159:A769T	ENSP00000299971:A643T	A	-	1	0	PHLPP2	70246723	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.963000	0.63694	2.612000	0.88384	0.655000	0.94253	GCA		0.488	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		7	119	0	0	0	1	0	7	119					T	71689222	C	T	71689222	3	4	398	1	0	0	0	0	1	0	0	0	11855	739	26	2	1477	2	PHLPP2	16	71689222	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	51132662	71689222	18665531	18	35326											
ZFHX3	463	broad.mit.edu	37	chr16	72831385	72831385	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttgttgttgttgttgTtgctgttgctgctgctgttg	14	4	0	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:72831385T>C	ENST00000268489.5	-	9	5868	c.5196A>G	c.(5194-5196)caA>caG	p.Q1732Q	ZFHX3_ENST00000397992.5_Silent_p.Q818Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1732	Poly-Gln.				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)				gttgttgttgttgctgttgct	0.537																																						ENST00000268489.5																			0				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						c.(5194-5196)caA>caG		zinc finger homeobox 3							45	41	42					16																	72831385		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831385T>C	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.5196A>G	16.37:g.72831385T>C						ZFHX3_ENST00000397992.5_Silent_p.Q818Q	p.Q1732Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5868	-		Ovarian(137;0.13)	1732			Poly-Gln.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.5196A>G	CCDS10908.1																																																																																				0.537	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	13	0	0	0	1	0	3	13					C	72831385	T	C	72831385	2	2	398	1	0	0	0	0	0	0	0	1	17631	1722	60	3		3	ZFHX3	16	72831385	Silent	SNP	T	TCGA-QH-A86X-01A-11D-A36O-08	1142163	72831385	17523368	19	35327											
ACTG1	71	broad.mit.edu	37	chr17	79478121	79478121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggtctcgtggatgccGcaagattccatacctagggg	14	9	1	1	rs376841359		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr17:79478121G>A	ENST00000575842.1	-	4	1242	c.816C>T	c.(814-816)tgC>tgT	p.C272C	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C|ACTG1_ENST00000331925.2_Silent_p.C272C|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	272					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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTGGATGCCGCAAGATTCCA	0.542													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22344	0.0		0.0	False		,,,				2504	0.0					ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(814-816)tgC>tgT		actin, gamma 1		G	,	1,4405	2.1+/-5.4	0,1,2202	88	78	82		816,816	-8.2	0	17		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACTG1	NM_001199954.1,NM_001614.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	272/376,272/376	79478121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478121G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.816C>T	17.37:g.79478121G>A						ACTG1_ENST00000575087.1_Silent_p.C272C|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C	p.C272C			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		4	1242	-	all_neural(118;0.0878)|Melanoma(429;0.242)		272					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.816C>T	CCDS11782.1																																																																																				0.542	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		4	79	0	0	0	1	0	4	79					A	79478121	G	A	79478121	2	1	398	1	0	0	0	0	0	0	0	1	196	1079	38	1		1	ACTG1	17	79478121	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		79478121	1717089	20	35328											
ZNF407	55628	broad.mit.edu	37	chr18	72343568	72343568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatttgttttcttcttGctctgacttggaaaaacatg	9	7	3	1			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr18:72343568G>T	ENST00000299687.5	+	1	593	c.593G>T	c.(592-594)tGc>tTc	p.C198F	ZNF407_ENST00000309902.6_Missense_Mutation_p.C198F|ZNF407_ENST00000582337.1_Missense_Mutation_p.C198F|ZNF407_ENST00000577538.1_Missense_Mutation_p.C198F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	198					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)		TTTTCTTCTTGCTCTGACTTG	0.448																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(592-594)tGc>tTc		zinc finger protein 407							176	180	179					18																	72343568		2023	4173	6196	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343568G>T	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.593G>T	18.37:g.72343568G>T	ENSP00000299687:p.Cys198Phe					ZNF407_ENST00000577538.1_Missense_Mutation_p.C198F|ZNF407_ENST00000309902.6_Missense_Mutation_p.C198F|ZNF407_ENST00000582337.1_Missense_Mutation_p.C198F	p.C198F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	593	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	198					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.593G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827142	0.50739	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.14391	2.51;2.51	5.63	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	1.491420	0.05951	U	0.638883	T	0.25680	0.0625	L	0.45285	1.41	0.09310	N	0.999999	D;D;P	0.56746	0.977;0.96;0.933	P;P;P	0.56216	0.794;0.657;0.456	T	0.19647	-1.0299	10	0.59425	D	0.04	.	10.118	0.42603	0.0:0.2625:0.5816:0.1559	.	198;198;198	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	F	198	ENSP00000299687:C198F;ENSP00000310359:C198F	ENSP00000299687:C198F	C	+	2	0	ZNF407	70472556	0.005000	0.15991	0.162000	0.22713	0.970000	0.65996	0.727000	0.25999	1.445000	0.47624	0.655000	0.94253	TGC		0.448	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		10	140	1	0	0.00621372	1	0.00640201	10	140					T	72343568	G	T	72343568	3	4	398	1	0	0	0	0	1	0	0	0	17884	1319	46	4	595	4	ZNF407	18	72343568	Missense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		72343568	5733680	21	35329											
CIC	23152	broad.mit.edu	37	chr19	42791393	42791393	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtgaccatgatgatgcGtgagttccctgaggcctggg	16	8	0	6			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:42791393G>A	ENST00000575354.2	+	3	492		c.e3+1		CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000572681.2_Splice_Site	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						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)				ATGATGATGCGTGAGTTCCCT	0.647			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.e4+1		capicua transcriptional repressor							45	42	43					19																	42791393		2203	4300	6503	SO:0001630	splice_region_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791393G>A	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.452+1G>A	19.37:g.42791393G>A						CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site				Q96RK0	CIC_HUMAN			4	3247	+		Prostate(69;0.00682)						Q7LGI1|Q9UEG5|Q9Y6T1	Splice_Site	SNP	ENST00000575354.2	37		CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899055	0.72754	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9837	0.64321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIC	47483233	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.216000	0.72212	2.154000	0.67381	0.485000	0.47835	.		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		Intron	11	7	0	0	0	1	0	11	7					A	42791393	G	A	42791393	5	1	398	1	0	0	0	0	0	0	1	0	3424	1159	40	1	463	1	CIC	19	42791393	Splice_Site	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		42791393	16337590	22	35330											
PRMT1	3276	broad.mit.edu	37	chr19	50185264	50185264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtgctggacgtcggctCgggcaccggcatcctctgca	16	13	1	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:50185264C>T	ENST00000391851.4	+	3	365	c.236C>T	c.(235-237)tCg>tTg	p.S79L	PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.S51L	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	87	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GACGTCGGCTCGGGCACCGGC	0.637																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(151-153)tCg>tTg		protein arginine methyltransferase 1							54	48	50					19																	50185264		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein methyltransferase activity	g.chr19:50185264C>T	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.236C>T	19.37:g.50185264C>T	ENSP00000375724:p.Ser79Leu					PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L|PRMT1_ENST00000391851.4_Missense_Mutation_p.S79L	p.S51L			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	658	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	78					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	c.152C>T	CCDS42592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.03|17.03	3.284174|3.284174	0.59867|0.59867	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000524771|ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	.|T;T;T;T;T;T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78;1.78;1.78;1.8;1.78;1.8	5.04|5.04	4.01|4.01	0.46588|0.46588	.|.	.|0.126699	.|0.49916	.|D	.|0.000135	T|T	0.47135|0.47135	0.1429|0.1429	M|M	0.86864|0.86864	2.845|2.845	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D;D;D	.|0.65815	.|0.995;0.995;0.994;0.994	.|P;P;P;P	.|0.59643	.|0.861;0.663;0.628;0.628	T|T	0.51694|0.51694	-0.8673|-0.8673	5|10	.|0.87932	.|D	.|0	-0.0644|-0.0644	7.0038|7.0038	0.24826|0.24826	0.0:0.7334:0.1747:0.0919|0.0:0.7334:0.1747:0.0919	.|.	.|87;51;79;73	.|Q99873;E9PKG1;G5E9B6;Q99873-2	.|ANM1_HUMAN;.;.;.	W|L	107|51;51;51;51;79;73;97;73;51;76	.|ENSP00000432349:S51L;ENSP00000433556:S51L;ENSP00000432538:S51L;ENSP00000431957:S51L;ENSP00000375724:S79L;ENSP00000406162:S97L;ENSP00000437273:S73L;ENSP00000432788:S51L;ENSP00000436732:S76L	.|ENSP00000375724:S79L	R|S	+|+	1|2	2|0	PRMT1|PRMT1	54877076|54877076	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.156000|0.156000	0.22039|0.22039	5.432000|5.432000	0.66514|0.66514	1.368000|1.368000	0.46115|0.46115	-0.148000|-0.148000	0.13756|0.13756	CGG|TCG		0.637	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		3	24	0	0	0	1	0	3	24					T	50185264	C	T	50185264	3	4	398	1	0	0	0	0	1	0	0	0	12535	893	31	1	304	1	PRMT1	19	50185264	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	7393871	50185264	8943719	23	35331											
TH1L	51497	broad.mit.edu	37	chr20	57556343	57556343	+	Frame_Shift_Del	DEL	G	G	-													cgctcgcgggagggcatggcGggggccgtgccgggcgccat							TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr20:57556343delG	ENST00000344018.3	+	1	33	c.6delG	c.(4-6)gcgfs	p.A2fs	NELFCD_ENST00000602795.1_Frame_Shift_Del_p.A11fs			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	2					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											AGGGCATGGCGGGGGCCGTGC	0.821																																						ENST00000602795.1																			0											c.(31-33)gcfs		negative elongation factor complex member C/D				20,10,2976		3,0,14,1,8,1477	3	6	5			2.4	0.1	20		5	57,14,6421		5,0,47,3,8,3183	no	codingComplex	TH1L	NM_198976.1		8,0,61,4,16,4660	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0937,0.998,1.0634			57556343	77,24,9397	1747	3680	5427	SO:0001589	frameshift_variant	51497							g.chr20:57556343delG	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.6delG	20.37:g.57556343delG	ENSP00000342300:p.Ala2fs					NELFCD_ENST00000344018.3_Frame_Shift_Del_p.A2fs	p.A11fs							1	81	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Frame_Shift_Del	DEL	ENST00000344018.3	37	c.33delG																																																																																					0.821	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		2	4						2	4	---	---	---	---	-	57556343	G	-	57556343	7	5	398	1	0	1	0	1	0	0	0	0	15836	1103	39	0	8	0	TH1L	20	57556343	Frame_Shift_Del	DEL	G	TCGA-QH-A86X-01A-11D-A36O-08		57556343	5469177	24	35332											
RCC2	55920	broad.mit.edu	37	chr1	17735688	17735688	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgtgagtagcccatggcGacctggggggacaaatcagc	16	9	1	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:17735688G>A	ENST00000375436.4	-	13	1654	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	RP1-20B21.4_ENST00000439577.1_RNA|RCC2_ENST00000474892.1_5'Flank|RCC2_ENST00000375433.3_Silent_p.V489V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	489					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGCCCATGGCGACCTGGGGGG	0.522																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1465-1467)gtC>gtT		regulator of chromosome condensation 2							118	109	112					1																	17735688		2203	4300	6503	SO:0001819	synonymous_variant	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17735688G>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1467C>T	1.37:g.17735688G>A						RCC2_ENST00000375433.3_Silent_p.V489V	p.V489V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	13	1654	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	489					Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	c.1467C>T	CCDS181.1																																																																																				0.522	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		25	66	0	0	0	1	0	25	66					A	17735688	G	A	17735688	2	1	399	1	0	0	0	0	0	0	0	1	13174	1045	37	1		1	RCC2	1	17735688	Silent	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		17735688	231514933	1	35333											
SYCP1	6847	broad.mit.edu	37	chr1	115488993	115488993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaacagtcatcactgagAgcatctttggtgagatacag	10	8	3	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:115488993A>G	ENST00000369522.3	+	26	2478	c.2238A>G	c.(2236-2238)agA>agG	p.R746R	SYCP1_ENST00000369518.1_Silent_p.R746R	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	746					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)		CATCACTGAGAGCATCTTTGG	0.323																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				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						c.(2236-2238)agA>agG		synaptonemal complex protein 1							62	65	64					1																	115488993		2203	4298	6501	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115488993A>G	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.2238A>G	1.37:g.115488993A>G						SYCP1_ENST00000369518.1_Silent_p.R746R	p.R746R	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		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)	26	2478	+	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)	746					O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.2238A>G	CCDS879.1																																																																																				0.323	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		4	90	0	0	0	1	0	4	90					G	115488993	A	G	115488993	2	3	399	1	0	0	0	0	0	0	0	1	15428	301	11	3		3	SYCP1	1	115488993	Silent	SNP	A	TCGA-QH-A870-01A-11D-A36O-08	97753305	115488993	133761628	2	35334											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	54	0	0	0	1	0	32	54					T	209113112	C	T	209113112	3	4	399	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		209113112	34086261	3	35335											
VIL1	7429	broad.mit.edu	37	chr2	219297657	219297657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtccatcttcaagggaCgcatggtggtctaccaggtg	12	9	3	0			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:219297657C>A	ENST00000248444.5	+	13	1571	c.1483C>A	c.(1483-1485)Cgc>Agc	p.R495S	VIL1_ENST00000392114.2_Missense_Mutation_p.R184S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	495	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.R495C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAAGGGACGCATGGTGGT	0.562																																						ENST00000248444.5																			1	Substitution - Missense(1)	p.R495C(1)	ovary(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1483-1485)Cgc>Agc		villin 1							130	89	103					2																	219297657		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219297657C>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1483C>A	2.37:g.219297657C>A	ENSP00000248444:p.Arg495Ser					VIL1_ENST00000392114.2_Missense_Mutation_p.R184S	p.R495S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1571	+		Renal(207;0.0474)	495			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1483C>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662385	0.29515	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.17213	2.56;2.56;2.29	4.66	2.86	0.33363	.	1.245940	0.05445	N	0.548368	T	0.19967	0.0480	L	0.54323	1.7	0.23620	N	0.997273	B	0.22851	0.076	B	0.27380	0.079	T	0.34825	-0.9813	10	0.72032	D	0.01	-0.0374	5.0913	0.14710	0.26:0.5732:0.0:0.1668	.	495	P09327	VILI_HUMAN	S	495;184;64	ENSP00000248444:R495S;ENSP00000375962:R184S;ENSP00000394030:R64S	ENSP00000248444:R495S	R	+	1	0	VIL1	219005901	0.878000	0.30173	0.565000	0.28409	0.668000	0.39293	3.634000	0.54302	0.591000	0.29711	0.561000	0.74099	CGC		0.562	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		3	42	1	0	0.004672	1	0.00480178	3	42					A	219297657	C	A	219297657	3	1	399	1	0	0	0	0	1	0	0	0	17161	536	19	4	1529	4	VIL1	2	219297657	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	10184545	219297657	23901716	4	35336											
TRPM8	79054	broad.mit.edu	37	chr2	234847747	234847747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatttctgtgaccgggggcGccaagaacttcgccctgaag	12	12	2	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:234847747G>A	ENST00000324695.4	+	5	494	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	TRPM8_ENST00000355722.4_Missense_Mutation_p.A102T|TRPM8_ENST00000409625.1_Missense_Mutation_p.A75T|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	152					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)	p.A152T(2)		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)	GACCGGGGGCGCCAAGAACTT	0.607																																						ENST00000324695.4																			2	Substitution - Missense(2)	p.A152T(2)	liver(2)	breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(454-456)Gcc>Acc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						45	47	46					2																	234847747		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234847747G>A	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.454G>A	2.37:g.234847747G>A	ENSP00000323926:p.Ala152Thr					TRPM8_ENST00000409625.1_Missense_Mutation_p.A75T|TRPM8_ENST00000355722.4_Missense_Mutation_p.A102T|TRPM8_ENST00000433712.2_5'UTR	p.A152T	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	5	494	+		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)	152					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.454G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.091544	0.76756	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.09630	2.96;2.96;2.96	5.62	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.30070	0.0753	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.68765	0.742;0.96	T	0.02009	-1.1230	10	0.48119	T	0.1	-24.3374	13.3766	0.60743	0.0764:0.0:0.9236:0.0	.	102;152	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	T	152;102;75	ENSP00000323926:A152T;ENSP00000347956:A102T;ENSP00000386771:A75T	ENSP00000323926:A152T	A	+	1	0	TRPM8	234512486	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	6.376000	0.73141	1.390000	0.46547	0.586000	0.80456	GCC		0.607	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		5	71	0	0	0	1	0	5	71					A	234847747	G	A	234847747	3	1	399	1	0	0	0	0	1	0	0	0	16589	1087	38	1	468	1	TRPM8	2	234847747	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	15550090	234847747	8351626	5	35337											
GPR125	166647	broad.mit.edu	37	chr4	22438138	22438138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatcatcatctgcccaaaaGccacctctatcacatctgcg	4	15	6	0			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:22438138G>A	ENST00000334304.5	-	9	1481	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	GPR125_ENST00000502482.1_Silent_p.G404G|GPR125_ENST00000508133.1_Silent_p.G178G|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	404					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTGCCCAAAAGCCACCTCTAT	0.438																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1210-1212)ggC>ggT		G protein-coupled receptor 125							129	113	118					4																	22438138		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22438138G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1212C>T	4.37:g.22438138G>A						GPR125_ENST00000502482.1_Silent_p.G404G|GPR125_ENST00000508133.1_Silent_p.G178G|GPR125_ENST00000282943.5_5'UTR	p.G404G	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			9	1481	-		Breast(46;0.198)	404					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.1212C>T	CCDS33964.1																																																																																				0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			25	47	0	0	0	1	0	25	47					A	22438138	G	A	22438138	2	1	399	1	0	0	0	0	0	0	0	1	6639	958	34	2		2	GPR125	4	22438138	Silent	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		22438138	168716138	6	35338											
ATP10D	57205	broad.mit.edu	37	chr4	47517508	47517509	+	Frame_Shift_Del	DEL	TT	TT	-													tgcagagctgccaatttataTttcctgttcctagttgtcct							TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:47517508_47517509delTT	ENST00000273859.3	+	3	575_576	c.306_307delTT	c.(304-309)tatttcfs	p.F103fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.F103fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	103					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAATTTATATTTCCTGTTCCT	0.421																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(304-309)tatcfs		ATPase, class V, type 10D																																				SO:0001589	frameshift_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47517508_47517509delTT	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.306_307delTT	4.37:g.47517508_47517509delTT	ENSP00000273859:p.Phe103fs					ATP10D_ENST00000504445.1_Frame_Shift_Del_p.YF102fs	p.YF102fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			3	575_576	+			102					A2RRC8|D6REN2|Q8NC70|Q96SR3	Frame_Shift_Del	DEL	ENST00000273859.3	37	c.306_307delTT	CCDS3476.1																																																																																				0.421	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		52	67						52	67	---	---	---	---	-	47517509	TT	-	47517508	7	5	399	1	0	1	0	1	0	0	0	0	1118	1500	52	0	312	0	ATP10D	4	47517508	Frame_Shift_Del	DEL	TT	TCGA-QH-A870-01A-11D-A36O-08	25079370	47517508	143636768	7	35339											
UTP3	57050	broad.mit.edu	37	chr4	71555330	71555330	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttgatcaacaagctgtcCgttgtggatcagaagctgtc	10	8	2	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:71555330C>A	ENST00000254803.2	+	1	1135	c.936C>A	c.(934-936)tcC>tcA	p.S312S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	312					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ACAAGCTGTCCGTTGTGGATC	0.418																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(934-936)tcC>tcA		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)							162	161	161					4																	71555330		2203	4300	6503	SO:0001819	synonymous_variant	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555330C>A	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.936C>A	4.37:g.71555330C>A							p.S312S	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1135	+			312					Q6FI82	Silent	SNP	ENST00000254803.2	37	c.936C>A	CCDS3546.1																																																																																				0.418	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		17	264	1	0	2.35188e-11	1	2.5594e-11	17	264					A	71555330	C	A	71555330	2	1	399	1	0	0	0	0	0	0	0	1	17098	639	23	4		4	UTP3	4	71555330	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	24037822	71555330	119598946	8	35340											
PCDHB4	56131	broad.mit.edu	37	chr5	140503914	140503914	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatctcttggttcaggacacCgggagggaagttaaggaaaa	13	6	2	0	rs200773195		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:140503914C>G	ENST00000194152.1	+	1	2334	c.2334C>G	c.(2332-2334)acC>acG	p.T778T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	778					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)			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)			TTCAGGACACCGGGAGGGAAG	0.448																																						ENST00000194152.1																			0				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						c.(2332-2334)acC>acG									82	91	88					5																	140503914		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503914C>G	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.2334C>G	5.37:g.140503914C>G							p.T778T	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2334	+			778					Q4V761	Silent	SNP	ENST00000194152.1	37	c.2334C>G	CCDS4246.1																																																																																				0.448	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		49	59	0	0	0	1	0	49	59					G	140503914	C	G	140503914	2	3	399	1	0	0	0	0	0	0	0	1	11544	639	23	4		4	PCDHB4	5	140503914	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		140503914	40411346	9	35341											
DOCK2	1794	broad.mit.edu	37	chr5	169116337	169116337	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctgaaggtggtcttcacGgtgagtgtgcaccctcttct	11	10	5	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:169116337G>A	ENST00000256935.8	+	9	923	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	281					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)			TGGTCTTCACGGTGAGTGTGC	0.547																																						ENST00000256935.8																			0				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						c.e9+1		dedicator of cytokinesis 2							138	115	123					5																	169116337		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169116337G>A	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.843+1G>A	5.37:g.169116337G>A							p.T281_splice	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	923	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	281					Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	37	c.843_splice	CCDS4371.1																																																																																				0.547	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Silent	3	64	0	0	0	1	0	3	64					A	169116337	G	A	169116337	5	1	399	1	0	0	0	0	0	0	1	0	4687	1130	39	1	877	1	DOCK2	5	169116337	Splice_Site	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	28612423	169116337	11798923	10	35342											
NEDD9	4739	broad.mit.edu	37	chr6	11213626	11213626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtggggacttggtaaattCcctgattttggtaggaaggt	14	5	0	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:11213626C>T	ENST00000379446.5	-	2	513	c.347G>A	c.(346-348)gGa>gAa	p.G116E	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G116E|NEDD9_ENST00000379433.5_Missense_Mutation_p.G116E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	116	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGGTAAATTCCCTGATTTTG	0.552																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(346-348)gGa>gAa		neural precursor cell expressed, developmentally down-regulated 9							185	178	180					6																	11213626		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213626C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.347G>A	6.37:g.11213626C>T	ENSP00000368759:p.Gly116Glu					NEDD9_ENST00000379433.5_Missense_Mutation_p.G116E|NEDD9_ENST00000504387.1_Missense_Mutation_p.G116E|RP3-510L9.1_ENST00000500636.2_RNA	p.G116E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	513	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	116			Interacts strongly with spindle- regulatory protein D1M1.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.347G>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075751	0.76415	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	T;T;T	0.63580	1.05;1.17;-0.05	5.75	5.75	0.90469	.	0.340801	0.34484	N	0.003925	T	0.67069	0.2854	L	0.52266	1.64	0.47308	D	0.999388	P;D;D	0.89917	0.729;1.0;0.998	B;D;D	0.91635	0.316;0.999;0.919	T	0.62329	-0.6877	10	0.28530	T	0.3	-18.0591	15.4329	0.75116	0.0:0.8617:0.1383:0.0	.	116;116;116	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	E	116	ENSP00000368759:G116E;ENSP00000422871:G116E;ENSP00000368745:G116E	ENSP00000368745:G116E	G	-	2	0	NEDD9	11321612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.365000	0.59486	2.706000	0.92434	0.655000	0.94253	GGA		0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		46	66	0	0	0	1	0	46	66					T	11213626	C	T	11213626	3	4	399	1	0	0	0	0	1	0	0	0	10313	855	30	2	2251	2	NEDD9	6	11213626	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		11213626	159901441	11	35343											
PHF3	23469	broad.mit.edu	37	chr6	64395000	64395000	+	Frame_Shift_Del	DEL	A	A	-													gctatagaaagtactaaaatAgagtcccatgaaacagcaaa							TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:64395000delA	ENST00000262043.3	+	4	1717	c.1377delA	c.(1375-1377)atafs	p.I459fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.I459fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.I459fs			Q92576	PHF3_HUMAN	PHD finger protein 3	459					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)			GTACTAAAATAGAGTCCCATG	0.358																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1375-1377)atfs		PHD finger protein 3							57	63	61					6																	64395000		2202	4297	6499	SO:0001589	frameshift_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395000delA	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.1377delA	6.37:g.64395000delA	ENSP00000262043:p.Ile459fs					PHF3_ENST00000393387.1_Frame_Shift_Del_p.I459fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.I459fs	p.I459fs			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1717	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		459					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	ENST00000262043.3	37	c.1377delA	CCDS4966.1																																																																																				0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			46	64						46	64	---	---	---	---	-	64395000	A	-	64395000	7	5	399	1	0	1	0	1	0	0	0	0	11836	410	15	0	1387	0	PHF3	6	64395000	Frame_Shift_Del	DEL	A	TCGA-QH-A870-01A-11D-A36O-08	53181374	64395000	106720067	12	35344											
NSUN5	55695	broad.mit.edu	37	chr7	72718793	72718793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtcttattgcctggggCggcacaggcatcgatgacat	13	10	1	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:72718793C>T	ENST00000252594.6	-	6	721	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	NSUN5_ENST00000428206.1_Missense_Mutation_p.A198T|NSUN5_ENST00000310326.8_Missense_Mutation_p.A236T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A236T			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	236	S-adenosyl-L-methionine binding.				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)				TTGCCTGGGGCGGCACAGGCA	0.597																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(592-594)Gcc>Acc		NOP2/Sun domain family, member 5							35	38	37					7																	72718793		2203	4300	6503	SO:0001583	missense	55695						methyltransferase activity	g.chr7:72718793C>T	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.706G>A	7.37:g.72718793C>T	ENSP00000252594:p.Ala236Thr					NSUN5_ENST00000310326.8_Missense_Mutation_p.A236T|NSUN5_ENST00000252594.6_Missense_Mutation_p.A236T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A236T	p.A198T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			6	605	-		Lung NSC(55;0.163)	236					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	ENST00000252594.6	37	c.592G>A	CCDS5547.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708970	0.89018	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.5	4.5	0.54988	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	H	0.99261	4.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.989;0.999;0.994	T	0.78119	-0.2328	10	0.87932	D	0	.	16.4401	0.83898	0.0:1.0:0.0:0.0	.	236;198;236;236	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	T	198;236;236;236	ENSP00000393081:A198T;ENSP00000252594:A236T;ENSP00000388464:A236T;ENSP00000309126:A236T	ENSP00000252594:A236T	A	-	1	0	NSUN5	72356729	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.261000	0.78400	2.347000	0.79759	0.485000	0.47835	GCC		0.597	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		4	52	0	0	0	1	0	4	52					T	72718793	C	T	72718793	3	4	399	1	0	0	0	0	1	0	0	0	10681	768	27	1	735	1	NSUN5	7	72718793	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		72718793	86419870	13	35345											
MUC17	140453	broad.mit.edu	37	chr7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCcaacctcaactcctagtgaa	8	13	1	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	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)					TACCAGCATGCCAACCTCAAC	0.502																																						ENST00000306151.4																			0				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						c.(9814-9816)Cca>Tca		mucin 17, cell surface associated							336	334	334					7																	100684511		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684511C>T	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.9814C>T	7.37:g.100684511C>T	ENSP00000302716:p.Pro3272Ser						p.P3272S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9878	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3272			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9814C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.591	0.477466	0.12521	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	1.25	-2.31	0.06765	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.29852	-0.9998	9	0.08599	T	0.76	.	2.0673	0.03605	0.2482:0.2806:0.0:0.4712	.	3272	Q685J3	MUC17_HUMAN	S	3272	ENSP00000302716:P3272S	ENSP00000302716:P3272S	P	+	1	0	MUC17	100471231	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.045000	0.00306	-0.659000	0.05359	0.196000	0.17591	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	852	0	0	0	1	0	7	852					T	100684511	C	T	100684511	3	4	399	1	0	0	0	0	1	0	0	0	9974	739	26	2	9824	2	MUC17	7	100684511	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	27965718	100684511	58454152	14	35346											
ZNF703	80139	broad.mit.edu	37	chr8	37556023	37556023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggtcgctgtccttgcGgaatccacacactttgggcc	11	16	0	0			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr8:37556023G>A	ENST00000331569.4	+	2	1833	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	535					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|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 mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CTGTCCTTGCGGAATCCACAC	0.751																																						ENST00000331569.4																		FGFR1/ZNF703(2)	0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7						c.(1603-1605)cGg>cAg		zinc finger protein 703							11	12	11					8																	37556023		2194	4273	6467	SO:0001583	missense	80139				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr8:37556023G>A	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1604G>A	8.37:g.37556023G>A	ENSP00000332325:p.Arg535Gln						p.R535Q	NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)		2	1833	+			535					Q5XG76	Missense_Mutation	SNP	ENST00000331569.4	37	c.1604G>A	CCDS6094.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644954	0.87859	.	.	ENSG00000183779	ENST00000331569;ENST00000397235	T	0.48201	0.82	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.65975	2.015	0.58432	D	0.999998	D	0.69078	0.997	D	0.67725	0.953	T	0.67518	-0.5650	10	0.45353	T	0.12	-2.322	15.6509	0.77091	0.0:0.0:1.0:0.0	.	535	Q9H7S9	ZN703_HUMAN	Q	535;108	ENSP00000332325:R535Q	ENSP00000332325:R535Q	R	+	2	0	ZNF703	37675181	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.371000	0.97162	1.889000	0.54706	0.313000	0.20887	CGG		0.751	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069		7	7	0	0	0	1	0	7	7					A	37556023	G	A	37556023	3	1	399	1	0	0	0	0	1	0	0	0	18103	1116	39	1	1610	1	ZNF703	8	37556023	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		37556023	108807999	15	35347											
SUFU	51684	broad.mit.edu	37	chr10	104356987	104356987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacctgagccggccccccGaggatgacgaggacagccgg	15	14	0	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr10:104356987G>A	ENST00000369902.3	+	7	1013	c.847G>A	c.(847-849)Gag>Aag	p.E283K	SUFU_ENST00000423559.2_Missense_Mutation_p.E283K|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	283					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)	p.E283K(1)		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)		CCGGCCCCCCGAGGATGACGA	0.602			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"D, F, S"	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		1	Substitution - Missense(1)	p.E283K(1)	breast(1)	breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(847-849)Gag>Aag		suppressor of fused homolog (Drosophila)							97	90	93					10																	104356987		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104356987G>A	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.847G>A	10.37:g.104356987G>A	ENSP00000358918:p.Glu283Lys		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1381	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.E283K|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K	p.E283K	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	7	1013	+		Colorectal(252;0.207)	283					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.847G>A	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303464	0.81136	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	T;T;T	0.45276	0.9;0.9;0.9	6.03	6.03	0.97812	Suppressor of fused C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.47716	1.5	0.80722	D	1	D;D;P	0.67145	0.996;0.995;0.645	D;D;B	0.74348	0.983;0.97;0.071	T	0.39418	-0.9615	10	0.07813	T	0.8	-16.8043	20.5568	0.99304	0.0:0.0:1.0:0.0	.	283;283;283	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	K	283	ENSP00000358918:E283K;ENSP00000358915:E283K;ENSP00000411597:E283K	ENSP00000358915:E283K	E	+	1	0	SUFU	104346977	1.000000	0.71417	0.987000	0.45799	0.922000	0.55478	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG		0.602	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		40	71	0	0	0	1	0	40	71					A	104356987	G	A	104356987	3	1	399	1	0	0	0	0	1	0	0	0	15367	1059	37	1	873	1	SUFU	10	104356987	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		104356987	31177760	16	35348											
OLR1	4973	broad.mit.edu	37	chr12	10312559	10312559	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcataaacagctcctcGttgtatatatgcacaggtac	7	11	0	0	rs374394285		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr12:10312559G>A	ENST00000309539.3	-	6	802	c.742C>T	c.(742-744)Cga>Tga	p.R248*	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	248	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACAGCTCCTCGTTGTATATAT	0.428																																						ENST00000309539.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(742-744)Cga>Tga		oxidized low density lipoprotein (lectin-like) receptor 1		G	,,stop/ARG	0,4406		0,0,2203	132	135	134		,,742	-4.9	0	12		134	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,utr-3,stop-gained	OLR1	NM_001172632.1,NM_001172633.1,NM_002543.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,248/274	10312559	1,13005	2203	4300	6503	SO:0001587	stop_gained	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10312559G>A	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"C-type lectin domain containing"	8133	protein-coding gene	gene with protein product		602601	"oxidised low density lipoprotein (lectin-like) receptor 1"			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.742C>T	12.37:g.10312559G>A	ENSP00000309124:p.Arg248*					OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR	p.R248*	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN			6	802	-			248			C-type lectin.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Nonsense_Mutation	SNP	ENST00000309539.3	37	c.742C>T	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613669	0.28712	0.0	1.16E-4	ENSG00000173391	ENST00000309539;ENST00000539518	.	.	.	5.29	-4.93	0.03066	.	0.871456	0.09987	N	0.730247	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.8328	0.08882	0.103:0.1736:0.5073:0.216	.	.	.	.	X	248;195	.	ENSP00000309124:R248X	R	-	1	2	OLR1	10203826	0.001000	0.12720	0.000000	0.03702	0.159000	0.22180	-0.262000	0.08682	-0.586000	0.05898	0.650000	0.86243	CGA		0.428	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		51	85	0	0	0	1	0	51	85					A	10312559	G	A	10312559	4	1	399	1	0	0	0	0	0	1	0	0	10863	1153	40	1	83	1	OLR1	12	10312559	Nonsense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		10312559	123539336	17	35349											
RBM25	58517	broad.mit.edu	37	chr14	73572994	73572994	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagaagaagagaaatgGtaagattctaggctaaaata	10	2	1	5			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr14:73572994G>A	ENST00000261973.7	+	12	1752		c.e12+1		RBM25_ENST00000527432.1_Splice_Site|RBM25_ENST00000532483.1_Splice_Site	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25						mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGAGAAATGGTAAGATTCTA	0.328																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.e12+1		RNA binding motif protein 25							24	27	26					14																	73572994		2149	4235	6384	SO:0001630	splice_region_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572994G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1467+1G>A	14.37:g.73572994G>A						RBM25_ENST00000527432.1_Splice_Site|RBM25_ENST00000532483.1_Splice_Site		NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	12	1752	+								A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Splice_Site	SNP	ENST00000261973.7	37		CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162116	0.78226	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8132	0.92065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM25	72642747	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.002000	0.93572	2.694000	0.91930	0.650000	0.86243	.		0.328	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	Intron	12	24	0	0	0	1	0	12	24					A	73572994	G	A	73572994	5	1	399	1	0	0	0	0	0	0	1	0	13125	1275	44	2	1510	2	RBM25	14	73572994	Splice_Site	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		73572994	33776546	18	35350											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	16	0	0	0	1	0	9	16					T	7577120	C	T	7577120	3	4	399	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		7577120	73618090	19	35351											
TP53	7157	broad.mit.edu	37	chr17	7577600	7577600	+	Frame_Shift_Del	DEL	A	A	-													tagtggatggtggtacagtcAgagccaacctaggagataac							TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577600delA	ENST00000269305.4	-	7	870	c.681delT	c.(679-681)tctfs	p.S227fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000574684.1_5'UTR	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	227	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and 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.?(5)|p.S227S(3)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.S227_I232delSDCTTI(1)|p.D228fs*19(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)	TGGTACAGTCAGAGCCAACCT	0.522		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		26	Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Substitution - coding silent(3)	p.0?(8)|p.?(5)|p.S227S(3)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.S227_I232delSDCTTI(1)|p.D228fs*19(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(3)|large_intestine(3)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|oesophagus(1)|breast(1)|lung(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						c.(679-681)tcfs	Other conserved DNA damage response genes	tumor protein p53							98	82	87					17																	7577600		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577600delA	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.681delT	17.37:g.7577600delA	ENSP00000269305:p.Ser227fs	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)				TP53_ENST00000445888.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S227fs	p.S227fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	813	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	227		S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.681delT	CCDS11118.1																																																																																				0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	25						19	25	---	---	---	---	-	7577600	A	-	7577600	7	5	399	1	0	1	0	1	0	0	0	0	16378	175	7	0	609	0	TP53	17	7577600	Frame_Shift_Del	DEL	A	TCGA-QH-A870-01A-11D-A36O-08	480	7577600	73617610	20	35352											
B4GALNT2	124872	broad.mit.edu	37	chr17	47241556	47241556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtattacccagacttgacCgtaatagtggctgatgacag	11	8	0	4	rs570206637		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:47241556C>T	ENST00000300404.2	+	8	1112	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	351					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)	p.T351T(1)		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)			CAGACTTGACCGTAATAGTGG	0.483																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			1	Substitution - coding silent(1)	p.T351T(1)	large_intestine(1)	endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1051-1053)acC>acT		beta-1,4-N-acetyl-galactosaminyl transferase 2							160	160	160					17																	47241556		2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47241556C>T	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.1053C>T	17.37:g.47241556C>T						B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T	p.T351T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		8	1112	+			351					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.1053C>T	CCDS11544.1																																																																																				0.483	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		74	109	0	0	0	1	0	74	109					T	47241556	C	T	47241556	2	4	399	1	0	0	0	0	0	0	0	1	1267	639	23	1		1	B4GALNT2	17	47241556	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	39663956	47241556	33953654	21	35353											
TSHZ3	57616	broad.mit.edu	37	chr19	31767582	31767582	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagtttgcactgataggaAgtccccaggtcttcctcggg	11	11	1	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:31767582A>G	ENST00000240587.4	-	2	3444	c.3117T>C	c.(3115-3117)acT>acC	p.T1039T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1039					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)					ACTGATAGGAAGTCCCCAGGT	0.488																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(3115-3117)acT>acC		teashirt zinc finger homeobox 3							153	134	141					19																	31767582		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767582A>G	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.3117T>C	19.37:g.31767582A>G							p.T1039T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3444	-	Esophageal squamous(110;0.226)		1039					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.3117T>C	CCDS12421.2																																																																																				0.488	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		21	28	0	0	0	1	0	21	28					G	31767582	A	G	31767582	2	3	399	1	0	0	0	0	0	0	0	1	16622	59	3	3		3	TSHZ3	19	31767582	Silent	SNP	A	TCGA-QH-A870-01A-11D-A36O-08		31767582	27361401	22	35354											
PRR12	57479	broad.mit.edu	37	chr19	50099289	50099289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccatctcacatcattcGtccgctccagtcaccgcctg	6	19	3	0			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:50099289G>A	ENST00000418929.2	+	4	1709	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						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)		CACATCATTCGTCCGCTCCAG	0.672																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1696-1698)cGt>cAt		proline rich 12							32	37	35					19																	50099289		2014	4158	6172	SO:0001583	missense	57479						DNA binding	g.chr19:50099289G>A	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.1697G>A	19.37:g.50099289G>A	ENSP00000394510:p.Arg566His						p.R566H	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1709	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	330			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1697G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777788	0.16120	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	T	0.54095	0.1837	.	.	.	0.29306	N	0.868373	D	0.76494	0.999	P	0.60286	0.872	T	0.46289	-0.9202	7	0.14252	T	0.57	.	14.9421	0.71003	0.0:0.0:1.0:0.0	.	566	Q9ULL5-3	.	H	566	.	ENSP00000394510:R566H	R	+	2	0	PRR12	54791101	0.959000	0.32827	0.796000	0.32109	0.568000	0.35870	1.514000	0.35834	2.138000	0.66242	0.455000	0.32223	CGT		0.672	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	45	0	0	0	1	0	3	45					A	50099289	G	A	50099289	3	1	399	1	0	0	0	0	1	0	0	0	12584	1145	40	1	1711	1	PRR12	19	50099289	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	18331707	50099289	9029694	23	35355											
PRIC285	85441	broad.mit.edu	37	chr20	62196717	62196717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccctgacctggatggggCccgaggaggcatcgtccagc	16	14	0	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr20:62196717C>T	ENST00000467148.1	-	8	3527	c.3458G>A	c.(3457-3459)gGc>gAc	p.G1153D	HELZ2_ENST00000427522.2_Missense_Mutation_p.G584D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1153					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)										CTGGATGGGGCCCGAGGAGGC	0.697																																						ENST00000467148.1																			0											c.(3457-3459)gGc>gAc		helicase with zinc finger 2, transcriptional coactivator							9	10	10					20																	62196717		2168	4262	6430	SO:0001583	missense	85441							g.chr20:62196717C>T	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.3458G>A	20.37:g.62196717C>T	ENSP00000417401:p.Gly1153Asp					HELZ2_ENST00000427522.2_Missense_Mutation_p.G584D	p.G1153D	NM_001037335.2	NP_001032412.2					8	3527	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3458G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588111	0.03799	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.21543	2.0;2.0	4.81	2.63	0.31362	.	1.784010	0.02944	N	0.140918	T	0.17619	0.0423	L	0.38531	1.155	0.09310	N	1	B;B	0.21821	0.036;0.061	B;B	0.15484	0.006;0.013	T	0.27157	-1.0082	10	0.11182	T	0.66	-11.438	8.3197	0.32121	0.2653:0.6199:0.1148:0.0	.	1153;584	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	D	584;1153	ENSP00000393257:G584D;ENSP00000417401:G1153D	ENSP00000393257:G584D	G	-	2	0	RP4-697K14.7	61667161	0.013000	0.17824	0.783000	0.31826	0.265000	0.26407	0.551000	0.23361	0.985000	0.38656	0.491000	0.48974	GGC		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		13	6	0	0	0	1	0	13	6					T	62196717	C	T	62196717	3	4	399	1	0	0	0	0	1	0	0	0	12485	739	26	2	4539	2	PRIC285	20	62196717	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		62196717	828803	24	35356											
CHODL	140578	broad.mit.edu	37	chr21	19629023	19629023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgacaaaacccgggacaGggatttctgatggtgatttc	11	9	1	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:19629023G>T	ENST00000299295.2	+	2	668	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CHODL_ENST00000400135.1_Missense_Mutation_p.G52W|CHODL_ENST00000400128.1_Missense_Mutation_p.G52W|CHODL_ENST00000543733.1_Missense_Mutation_p.G74W|CHODL_ENST00000338326.3_Missense_Mutation_p.G52W|CHODL_ENST00000400131.1_Missense_Mutation_p.G52W|CHODL_ENST00000400127.1_Missense_Mutation_p.G52W	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	93	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACCCGGGACAGGGATTTCTGA	0.498																																						ENST00000299295.2																			0				kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(277-279)Ggg>Tgg		chondrolectin							105	115	111					21																	19629023		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19629023G>T	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.277G>T	21.37:g.19629023G>T	ENSP00000299295:p.Gly93Trp					CHODL_ENST00000400128.1_Missense_Mutation_p.G52W|CHODL_ENST00000400135.1_Missense_Mutation_p.G52W|CHODL_ENST00000543733.1_Missense_Mutation_p.G74W|CHODL_ENST00000400127.1_Missense_Mutation_p.G52W|CHODL_ENST00000400131.1_Missense_Mutation_p.G52W|CHODL_ENST00000338326.3_Missense_Mutation_p.G52W	p.G93W	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	668	+		all_epithelial(11;0.21)	93			C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.277G>T	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305667	0.60305	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.22539	2.02;1.95;1.95;2.02;1.98;1.95;2.0	5.82	5.82	0.92795	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.044760	0.85682	D	0.000000	T	0.54711	0.1875	M	0.87328	2.875	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.57894	-0.7732	9	.	.	.	-17.3966	19.106	0.93294	0.0:0.0:1.0:0.0	.	93;74;52	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	W	52;52;52;52;93;52;74	ENSP00000382993:G52W;ENSP00000382996:G52W;ENSP00000383001:G52W;ENSP00000382992:G52W;ENSP00000299295:G93W;ENSP00000339975:G52W;ENSP00000443566:G74W	.	G	+	1	0	CHODL	18550894	1.000000	0.71417	0.798000	0.32154	0.563000	0.35712	6.813000	0.75231	2.759000	0.94783	0.557000	0.71058	GGG		0.498	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		4	61	1	0	0.00909568	1	0.00909568	4	61					T	19629023	G	T	19629023	3	4	399	1	0	0	0	0	1	0	0	0	3364	1000	35	4	283	4	CHODL	21	19629023	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		19629023	28500872	25	35357											
ITSN1	6453	broad.mit.edu	37	chr21	35237613	35237613	+	Frame_Shift_Del	DEL	C	C	-													ccagcagaagacggatgaggCcccagacttcaaggagttcg							TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:35237613delC	ENST00000381318.3	+	32	4337	c.4049delC	c.(4048-4050)gccfs	p.A1350fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.A1350fs|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1350	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGGATGAGGCCCCAGACTTC	0.607																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4048-4050)gcfs		intersectin 1 (SH3 domain protein)							19	19	19					21																	35237613		2202	4296	6498	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35237613delC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4049delC	21.37:g.35237613delC	ENSP00000370719:p.Ala1350fs					AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.A1350fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.A1345fs	p.A1350fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			32	4337	+			1350			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.4049delC	CCDS33545.1																																																																																				0.607	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		2	4						2	4	---	---	---	---	-	35237613	C	-	35237613	7	5	399	1	0	1	0	1	0	0	0	0	7926	739	26	0	4177	0	ITSN1	21	35237613	Frame_Shift_Del	DEL	C	TCGA-QH-A870-01A-11D-A36O-08	15608590	35237613	12892282	26	35358											
ATRX	546	broad.mit.edu	37	chrX	76939354	76939354	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cactatctacctgttttcttGaaagtttagcttctgacttt	5	9	3	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:76939354G>C	ENST00000373344.5	-	9	1608	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S427*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	465					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						CTGTTTTCTTGAAAGTTTAGC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1393-1395)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						185	183	184					X																	76939354		2203	4294	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939354G>C	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.1394C>G	X.37:g.76939354G>C	ENSP00000362441:p.Ser465*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S427*	p.S465*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1608	-			465					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1394C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	37	6.192034	0.97362	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.89	4.02	0.46733	.	0.991838	0.08199	N	0.982639	.	.	.	.	.	.	0.21579	N	0.999631	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.3682	8.1376	0.31064	0.2124:0.0:0.7876:0.0	.	.	.	.	X	465;427;421	.	ENSP00000362441:S465X	S	-	2	0	ATRX	76826010	0.024000	0.19004	0.890000	0.34922	0.957000	0.61999	0.867000	0.27968	0.846000	0.35142	0.509000	0.49947	TCA		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		141	245	0	0	0	1	0	141	245					C	76939354	G	C	76939354	4	2	399	1	0	0	0	0	0	1	0	0	1208	1294	45	4	6192	4	ATRX	23	76939354	Nonsense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		76939354	78331206	27	35359											
CHM	1121	broad.mit.edu	37	chrX	85218743	85218743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaattctgtttttctttGgttgctctgtggtatcttct	8	6	5	0			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:85218743G>A	ENST00000357749.2	-	5	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.P62L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	210					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)				GTTTTTCTTTGGTTGCTCTGT	0.333																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(628-630)cCa>cTa		choroideremia (Rab escort protein 1)							117	93	101					X																	85218743		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218743G>A	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.629C>T	X.37:g.85218743G>A	ENSP00000350386:p.Pro210Leu					CHM_ENST00000537751.1_Missense_Mutation_p.P62L|CHM_ENST00000467744.1_Intron	p.P210L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			5	658	-		all_lung(315;5.41e-06)	210					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.629C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126940	0.20959	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59638	0.25;0.25	4.5	3.63	0.41609	.	0.503944	0.21742	N	0.069804	T	0.56963	0.2021	M	0.78916	2.43	0.58432	D	0.999992	B	0.17852	0.024	B	0.26693	0.072	T	0.51012	-0.8759	10	0.14656	T	0.56	-30.841	12.011	0.53286	0.0879:0.0:0.9121:0.0	.	210	P24386	RAE1_HUMAN	L	210;62	ENSP00000350386:P210L;ENSP00000441728:P62L	ENSP00000350386:P210L	P	-	2	0	CHM	85105399	1.000000	0.71417	0.922000	0.36590	0.347000	0.29111	2.414000	0.44627	0.816000	0.34421	0.284000	0.19432	CCA		0.333	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		42	66	0	0	0	1	0	42	66					A	85218743	G	A	85218743	3	1	399	1	0	0	0	0	1	0	0	0	3350	1348	47	2	1376	2	CHM	23	85218743	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	8279389	85218743	70051817	28	35360											
ODZ1	10178	broad.mit.edu	37	chrX	123518249	123518249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagatcgtaactataacGccactgggttttgtcattta	7	8	2	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:123518249G>A	ENST00000371130.3	-	29	6574	c.6511C>T	c.(6511-6513)Cgt>Tgt	p.R2171C	TENM1_ENST00000422452.2_Missense_Mutation_p.R2178C|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2171					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)										TAACTATAACGCCACTGGGTT	0.448																																						ENST00000422452.2																			0											c.(6532-6534)Cgt>Tgt		teneurin transmembrane protein 1							139	128	131					X																	123518249		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518249G>A	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.6511C>T	X.37:g.123518249G>A	ENSP00000360171:p.Arg2171Cys					TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C|STAG2_ENST00000469481.1_Intron	p.R2178C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6595	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6532C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899242	0.52227	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.21	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	D	0.95036	0.8174	10	0.87932	D	0	.	18.4768	0.90795	0.0:0.0:1.0:0.0	.	2177;2178;2171	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2171;2178	ENSP00000360171:R2171C;ENSP00000403954:R2178C	ENSP00000360171:R2171C	R	-	1	0	ODZ1	123345930	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.271000	0.65553	2.304000	0.77564	0.544000	0.68410	CGT		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	105	0	0	0	1	0	45	105					A	123518249	G	A	123518249	3	1	399	1	0	0	0	0	1	0	0	0	10834	1087	38	1	1678	1	ODZ1	23	123518249	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	38299506	123518249	31752311	29	35361											
ODZ1	10178	broad.mit.edu	37	chrX	123663835	123663835	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatcacacaggcacgccTgcaacacaagaccaaaggca	8	14	1	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:123663835T>A	ENST00000371130.3	-	16	2715		c.e16-2		TENM1_ENST00000422452.2_Splice_Site	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1						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)										CAGGCACGCCTGCAACACAAG	0.428																																						ENST00000422452.2																			0											c.e16-2		teneurin transmembrane protein 1							92	70	77					X																	123663835		2203	4300	6503	SO:0001630	splice_region_variant	10178							g.chrX:123663835T>A	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.2652-2A>T	X.37:g.123663835T>A						TENM1_ENST00000371130.3_Splice_Site		NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					16	2715	-								B2RTR5|Q5JZ17	Splice_Site	SNP	ENST00000371130.3	37		CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771551	0.90108	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.161	0.72785	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODZ1	123491516	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.040000	0.89188	1.964000	0.57103	0.481000	0.45027	.		0.428	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	Intron	5	64	0	0	0	1	0	5	64					A	123663835	T	A	123663835	5	1	399	1	0	0	0	0	0	0	1	0	10834	1594	55	5	5616	5	ODZ1	23	123663835	Splice_Site	SNP	T	TCGA-QH-A870-01A-11D-A36O-08	145586	123663835	31606725	30	35362											
SPTA1	6708	broad.mit.edu	37	chr1	158596678	158596678	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaattcctgaaaggcAtaatcgtcttccaattgcaa	7	9	1	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr1:158596678A>G	ENST00000368147.4	-	41	5964	c.5784T>C	c.(5782-5784)taT>taC	p.Y1928Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1928					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGAAAGGCATAATCGTCTT	0.438																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5782-5784)taT>taC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							172	168	169					1																	158596678		1873	4113	5986	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596678A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5784T>C	1.37:g.158596678A>G						SPTA1_ENST00000368147.3_Silent_p.Y1925Y|SPTA1_ENST00000461624.1_5'UTR	p.Y1928Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			41	5964	-	all_hematologic(112;0.0378)		1928					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.5784T>C	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		70	84	0	0	0	1	0	70	84					G	158596678	A	G	158596678	2	3	400	1	0	0	0	0	0	0	0	1	15115	224	8	3		3	SPTA1	1	158596678	Silent	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08		158596678	90653943	1	35363											
TBR1	10716	broad.mit.edu	37	chr2	162275516	162275516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgtgcagacgttcactttCcctgagactcagttcatcgc	9	14	3	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:162275516C>T	ENST00000389554.3	+	4	1400	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TBR1_ENST00000410035.1_Silent_p.F74F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	361					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						CGTTCACTTTCCCTGAGACTC	0.632																																						ENST00000389554.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(1081-1083)ttC>ttT		T-box, brain, 1							99	96	97					2																	162275516		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162275516C>T	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.1083C>T	2.37:g.162275516C>T						TBR1_ENST00000410035.1_Silent_p.F74F	p.F361F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			4	1400	+			361					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.1083C>T	CCDS33310.1																																																																																				0.632	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		43	72	0	0	0	1	0	43	72					T	162275516	C	T	162275516	2	4	400	1	0	0	0	0	0	0	0	1	15644	854	30	2		2	TBR1	2	162275516	Silent	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		162275516	80923857	2	35364											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	35	0	0	0	1	0	20	35					T	209113112	C	T	209113112	3	4	400	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	46837596	209113112	34086261	3	35365											
FBLN2	2199	broad.mit.edu	37	chr3	13670699	13670699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggtgtgcaccgctgcGgtgagggccaagtgtgccac	16	11	0	2	rs111284875		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:13670699G>A	ENST00000295760.7	+	12	2677	c.2608G>A	c.(2608-2610)Ggt>Agt	p.G870S	FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000404922.3_Missense_Mutation_p.G917S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	870	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCACCGCTGCGGTGAGGGCCA	0.642																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2749-2751)Ggt>Agt		fibulin 2		G	SER/GLY,SER/GLY,SER/GLY	0,4238		0,0,2119	44	50	48		2749,2749,2608	1.9	0	3	dbSNP_132	48	1,8467		0,1,4233	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	56,56,56	0,1,6352	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	917/1232,917/1232,870/1185	13670699	1,12705	2119	4234	6353	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670699G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2608G>A	3.37:g.13670699G>A	ENSP00000295760:p.Gly870Ser					FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S|FBLN2_ENST00000295760.7_Missense_Mutation_p.G870S	p.G917S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		13	2868	+			913			EGF-like 7; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.2749G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004533	0.54254	0.0	1.18E-4	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	4.91	1.92	0.25849	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.192454	0.46758	N	0.000264	T	0.79964	0.4537	N	0.21142	0.635	0.51482	D	0.999927	P;B;P	0.45348	0.773;0.039;0.856	B;B;B	0.39339	0.297;0.014;0.1	T	0.71682	-0.4519	10	0.35671	T	0.21	.	5.4641	0.16634	0.2185:0.0:0.6403:0.1413	.	870;917;896	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	896;917;870;917	ENSP00000445705:G896S;ENSP00000384169:G917S;ENSP00000295760:G870S;ENSP00000420042:G917S	ENSP00000295760:G870S	G	+	1	0	FBLN2	13645700	0.999000	0.42202	0.002000	0.10522	0.922000	0.55478	2.720000	0.47252	0.064000	0.16427	0.655000	0.94253	GGT		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		10	27	0	0	0	1	0	10	27					A	13670699	G	A	13670699	3	1	400	1	0	0	0	0	1	0	0	0	5699	1116	39	1	1485	1	FBLN2	3	13670699	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		13670699	184351731	4	35366											
ZNF860	344787	broad.mit.edu	37	chr3	32031030	32031030	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacaagcctatcaaagaTcagcttggattaagctttca	8	8	3	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:32031030T>C	ENST00000360311.4	+	2	1008	c.459T>C	c.(457-459)gaT>gaC	p.D153D		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	153					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)|lung(4)|ovary(1)	8						CTATCAAAGATCAGCTTGGAT	0.398																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(457-459)gaT>gaC		zinc finger protein 860							70	51	57					3																	32031030		692	1591	2283	SO:0001819	synonymous_variant	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031030T>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.459T>C	3.37:g.32031030T>C							p.D153D	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1008	+			153					B4DFA4	Silent	SNP	ENST00000360311.4	37	c.459T>C	CCDS46784.1																																																																																				0.398	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			39	51	0	0	0	1	0	39	51					C	32031030	T	C	32031030	2	2	400	1	0	0	0	0	0	0	0	1	18191	1432	50	3		3	ZNF860	3	32031030	Silent	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08	18360331	32031030	165991400	5	35367											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct							TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		9	184						9	184	---	---	---	---	A	185212518	-	A	185212517	7	5	400	1	0	1	1	0	0	0	0	0	16161	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-R8-A6MK-01A-11D-A32B-08	153181487	185212517	12809913	6	35368											
HTT	3064	broad.mit.edu	37	chr4	3214422	3214422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacattgtgaaattcgtgGtggcaacccttgaggtaaga	13	6	0	3			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:3214422G>A	ENST00000355072.5	+	49	6905	c.6760G>A	c.(6760-6762)Gtg>Atg	p.V2254M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2254					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAAATTCGTGGTGGCAACCCT	0.547																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(6760-6762)Gtg>Atg		huntingtin							95	98	97					4																	3214422		2002	4166	6168	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3214422G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6760G>A	4.37:g.3214422G>A	ENSP00000347184:p.Val2254Met						p.V2254M	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	49	6905	+		all_epithelial(65;0.18)	2254					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6760G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627425	0.28978	.	.	ENSG00000197386	ENST00000355072	T	0.06371	3.31	5.51	5.51	0.81932	.	0.274248	0.37136	N	0.002233	T	0.12518	0.0304	M	0.63428	1.95	0.37060	D	0.898032	P	0.50943	0.94	P	0.44394	0.448	T	0.08764	-1.0706	10	0.33940	T	0.23	.	19.4195	0.94715	0.0:0.0:1.0:0.0	.	2254	P42858	HD_HUMAN	M	2254	ENSP00000347184:V2254M	ENSP00000347184:V2254M	V	+	1	0	HTT	3184220	1.000000	0.71417	0.999000	0.59377	0.061000	0.15899	5.194000	0.65125	2.576000	0.86940	0.609000	0.83330	GTG		0.547	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		15	74	0	0	0	1	0	15	74					A	3214422	G	A	3214422	3	1	400	1	0	0	0	0	1	0	0	0	7457	1261	44	2	6954	2	HTT	4	3214422	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		3214422	187939854	7	35369											
ARAP2	116984	broad.mit.edu	37	chr4	36121334	36121334	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catttgtttgacttgatcttCtttaacctgtttaaaatata	4	6	2	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:36121334C>T	ENST00000303965.4	-	24	4390	c.3901G>A	c.(3901-3903)Gaa>Aaa	p.E1301K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1301					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						ACTTGATCTTCTTTAACCTGT	0.299																																						ENST00000303965.4																			0				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						c.(3901-3903)Gaa>Aaa		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							147	150	149					4																	36121334		2203	4298	6501	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36121334C>T	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.3901G>A	4.37:g.36121334C>T	ENSP00000302895:p.Glu1301Lys						p.E1301K	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			24	4390	-			1301					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3901G>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388493	0.82902	.	.	ENSG00000047365	ENST00000303965	T	0.09817	2.94	5.06	4.22	0.49857	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.114313	0.64402	D	0.000016	T	0.18759	0.0450	M	0.64404	1.975	0.41743	D	0.989627	P	0.50443	0.935	P	0.48368	0.575	T	0.01791	-1.1273	10	0.66056	D	0.02	.	13.5057	0.61483	0.0:0.925:0.0:0.0749	.	1301	Q8WZ64	ARAP2_HUMAN	K	1301	ENSP00000302895:E1301K	ENSP00000302895:E1301K	E	-	1	0	ARAP2	35797729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.011000	0.70760	1.369000	0.46134	0.585000	0.79938	GAA		0.299	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		19	55	0	0	0	1	0	19	55					T	36121334	C	T	36121334	3	4	400	1	0	0	0	0	1	0	0	0	839	922	32	2	1253	2	ARAP2	4	36121334	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	32906912	36121334	155032942	8	35370											
INPP4B	8821	broad.mit.edu	37	chr4	143094935	143094935	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctttggctgtgttttcaggTgaatagtaaataaactggta	11	4	1	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:143094935T>A	ENST00000513000.1	-	17	1642	c.1209A>T	c.(1207-1209)tcA>tcT	p.S403S	INPP4B_ENST00000509777.1_Silent_p.S403S|INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000262992.4_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	403					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)					TGTTTTCAGGTGAATAGTAAA	0.383																																						ENST00000513000.1																			0				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						c.(1207-1209)tcA>tcT		inositol polyphosphate-4-phosphatase, type II, 105kDa							289	271	277					4																	143094935		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143094935T>A	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.1209A>T	4.37:g.143094935T>A						INPP4B_ENST00000262992.4_Silent_p.S403S|INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S|INPP4B_ENST00000509777.1_Silent_p.S403S	p.S403S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			17	1642	-	all_hematologic(180;0.158)		403					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1209A>T	CCDS3757.1																																																																																				0.383	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		36	66	0	0	0	1	0	36	66					A	143094935	T	A	143094935	2	1	400	1	0	0	0	0	0	0	0	1	7753	1683	59	5		5	INPP4B	4	143094935	Silent	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08	106973601	143094935	48059341	9	35371											
ODZ3	55714	broad.mit.edu	37	chr4	183245244	183245244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggaacggcgctacaCaaattcctccgcagacaatg	10	11	0	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:183245244C>A	ENST00000511685.1	+	2	194	c.71C>A	c.(70-72)aCa>aAa	p.T24K	TENM3_ENST00000406950.2_Missense_Mutation_p.T24K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	24	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGGCGCTACACAAATTCCTCC	0.517																																						ENST00000511685.1																			0											c.(70-72)aCa>aAa		teneurin transmembrane protein 3							102	105	104					4																	183245244		1984	4171	6155	SO:0001583	missense	55714							g.chr4:183245244C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.71C>A	4.37:g.183245244C>A	ENSP00000424226:p.Thr24Lys					TENM3_ENST00000406950.2_Missense_Mutation_p.T24K	p.T24K							2	194	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.71C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785287	0.49997	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.39592	1.07;1.07;1.07	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.55130	0.1901	M	0.66939	2.045	0.42251	D	0.991978	P;B	0.51240	0.943;0.446	P;B	0.54401	0.751;0.239	T	0.57608	-0.7782	9	0.87932	D	0	.	13.1248	0.59349	0.0:0.9278:0.0:0.0721	.	24;24	D6RGC5;Q9P273	.;TEN3_HUMAN	K	24	ENSP00000421320:T24K;ENSP00000424226:T24K;ENSP00000385276:T24K	ENSP00000385276:T24K	T	+	2	0	ODZ3	183482238	1.000000	0.71417	0.134000	0.22075	0.456000	0.32438	5.624000	0.67764	2.941000	0.99782	0.655000	0.94253	ACA		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	33	1	0	0.014758	1	0.014758	4	33					A	183245244	C	A	183245244	3	1	400	1	0	0	0	0	1	0	0	0	10836	478	17	4	73	4	ODZ3	4	183245244	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	40150309	183245244	7909032	10	35372											
AGXT2	64902	broad.mit.edu	37	chr5	35037113	35037113	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcattggagggtggaagaaGacggtgcttgtatgccacag	16	6	0	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:35037113G>A	ENST00000231420.6	-	4	620	c.420C>T	c.(418-420)gtC>gtT	p.V140V	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	140			V -> I (in dbSNP:rs37369). {ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GGTGGAAGAAGACGGTGCTTG	0.517																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(418-420)gtC>gtT		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						112	108	109					5																	35037113		2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35037113G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.420C>T	5.37:g.35037113G>A							p.V140V	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	4	620	-	all_lung(31;4.52e-05)		140		V -> I (in dbSNP:rs37369).			B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.420C>T	CCDS3908.1																																																																																				0.517	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		7	59	0	0	0	1	0	7	59					A	35037113	G	A	35037113	2	1	400	1	0	0	0	0	0	0	0	1	405	929	33	2		2	AGXT2	5	35037113	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		35037113	145878147	11	35373											
RAD50	10111	broad.mit.edu	37	chr5	131893129	131893129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaattttggttggacccaAtggggcgggaaagacggtaa	14	6	0	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:131893129A>G	ENST00000265335.6	+	1	500	c.113A>G	c.(112-114)aAt>aGt	p.N38S	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	38					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)			GTTGGACCCAATGGGGCGGGA	0.453								Homologous recombination																														ENST00000265335.6																			0				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						c.(112-114)aAt>aGt	Homologous recombination	RAD50 homolog (S. cerevisiae)							90	98	95					5																	131893129		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131893129A>G	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.113A>G	5.37:g.131893129A>G	ENSP00000265335:p.Asn38Ser					RAD50_ENST00000378823.3_5'UTR	p.N38S			Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	500	+		all_cancers(142;0.0368)|Breast(839;0.198)	38					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.113A>G	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	30	5.053589	0.93793	.	.	ENSG00000113522	ENST00000265335;ENST00000453394	T;T	0.19669	2.13;2.13	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33085	-0.9882	10	0.87932	D	0	-26.4795	13.9504	0.64113	1.0:0.0:0.0:0.0	.	38	Q92878	RAD50_HUMAN	S	38	ENSP00000265335:N38S;ENSP00000400049:N38S	ENSP00000265335:N38S	N	+	2	0	RAD50	131921028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	2.180000	0.69256	0.533000	0.62120	AAT		0.453	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		22	33	0	0	0	1	0	22	33					G	131893129	A	G	131893129	3	3	400	1	0	0	0	0	1	0	0	0	12984	101	4	3	115	3	RAD50	5	131893129	Missense_Mutation	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08	96856016	131893129	49022131	12	35374											
DSP	1832	broad.mit.edu	37	chr6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctctatgatgctaaaCgccgccaggattccttagaa	10	10	1	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:7576615C>T	ENST00000379802.3	+	19	3060	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_ENST00000418664.2_Missense_Mutation_p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	907	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)		TGATGCTAAACGCCGCCAGGA	0.423																																						ENST00000379802.3																			0				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						c.(2719-2721)Cgc>Tgc		desmoplakin							98	102	100					6																	7576615		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7576615C>T	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.2719C>T	6.37:g.7576615C>T	ENSP00000369129:p.Arg907Cys					DSP_ENST00000418664.2_Missense_Mutation_p.R907C	p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	19	3060	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	907			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2719C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770351	0.90108	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.36340	1.26;1.96	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.37073	0.0990	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.54706	0.543;0.759	T	0.09907	-1.0653	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	954;907	Q4LE79;P15924	.;DESP_HUMAN	C	907;907;712	ENSP00000369129:R907C;ENSP00000396591:R907C	ENSP00000369129:R907C	R	+	1	0	DSP	7521614	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.346000	0.65992	2.865000	0.98341	0.655000	0.94253	CGC		0.423	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		32	40	0	0	0	1	0	32	40					T	7576615	C	T	7576615	3	4	400	1	0	0	0	0	1	0	0	0	4781	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		7576615	163538452	13	35375											
PRSS16	10279	broad.mit.edu	37	chr6	27216911	27216911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggccccagcctggggcGccctggtgataagcctggaa	14	14	0	1	rs149942995		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:27216911G>A	ENST00000230582.3	+	4	385	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	124					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A124T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCCTGGGGCGCCCTGGTGAT	0.592																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			1	Substitution - Missense(1)	p.A124T(1)	lung(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(370-372)Gcc>Acc		protease, serine, 16 (thymus)		G	THR/ALA	0,4406		0,0,2203	63	69	67		370	4	1	6	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS16	NM_005865.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	124/515	27216911	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27216911G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.370G>A	6.37:g.27216911G>A	ENSP00000230582:p.Ala124Thr					PRSS16_ENST00000421826.2_Intron	p.A124T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			4	385	+			124					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.370G>A	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.885391|2.885391	0.51908|0.51908	0.0|0.0	1.16E-4|1.16E-4	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953|ENST00000485993;ENST00000475106	T|.	0.23147|.	1.92|.	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84257|0.84257	0.5432|0.5432	H|H	0.95712|0.95712	3.71|3.71	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.998;0.994;0.999|.	D|D	0.88693|0.88693	0.3210|0.3210	10|5	0.87932|.	D|.	0|.	-32.899|-32.899	14.0762|14.0762	0.64891|0.64891	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	15;124;124|.	Q7Z5N6;C9JI59;Q9NQE7|.	.;.;TSSP_HUMAN|.	T|H	124|15	ENSP00000230582:A124T|.	ENSP00000230582:A124T|.	A|R	+|+	1|2	0|0	PRSS16|PRSS16	27324890|27324890	0.999000|0.999000	0.42202|0.42202	0.995000|0.995000	0.50966|0.50966	0.009000|0.009000	0.06853|0.06853	4.378000|4.378000	0.59568|0.59568	2.249000|2.249000	0.74217|0.74217	0.557000|0.557000	0.71058|0.71058	GCC|CGC		0.592	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			7	65	0	0	0	1	0	7	65					A	27216911	G	A	27216911	3	1	400	1	0	0	0	0	1	0	0	0	12616	1087	38	1	384	1	PRSS16	6	27216911	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	19640296	27216911	143898156	14	35376											
HCRTR2	3062	broad.mit.edu	37	chr6	55113495	55113495	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaccaactacttcatagtCaatctttctctggctgatgt	6	10	4	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:55113495C>T	ENST00000370862.3	+	2	618	c.282C>T	c.(280-282)gtC>gtT	p.V94V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	94					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTTCATAGTCAATCTTTCTC	0.453																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(280-282)gtC>gtT		hypocretin (orexin) receptor 2							231	207	215					6																	55113495		2203	4300	6503	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113495C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.282C>T	6.37:g.55113495C>T							p.V94V	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	618	+	Lung NSC(77;0.107)|Renal(3;0.122)		94					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.282C>T	CCDS4956.1																																																																																				0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			5	189	0	0	0	1	0	5	189					T	55113495	C	T	55113495	2	4	400	1	0	0	0	0	0	0	0	1	7002	813	29	2		2	HCRTR2	6	55113495	Silent	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	27896584	55113495	116001572	15	35377											
PLG	5340	broad.mit.edu	37	chr6	161143573	161143573	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacaccacaccggcaccaGaagaccccagaaaactaccc	6	17	0	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:161143573G>A	ENST00000308192.9	+	10	1293	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	410	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCGGCACCAGAAGACCCCAG	0.483																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1228-1230)caG>caA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						132	127	129					6																	161143573		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161143573G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1230G>A	6.37:g.161143573G>A							p.Q410Q	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	10	1293	+			410			Kringle 4.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1230G>A	CCDS5279.1																																																																																				0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		12	151	0	0	0	1	0	12	151					A	161143573	G	A	161143573	2	1	400	1	0	0	0	0	0	0	0	1	12086	933	33	2		2	PLG	6	161143573	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	106030078	161143573	9971494	16	35378											
PTPRZ1	5803	broad.mit.edu	37	chr7	121676713	121676713	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatggcaaactgactgatTatatcaatgccaattatgtt	8	6	1	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr7:121676713T>C	ENST00000393386.2	+	18	5755	c.5344T>C	c.(5344-5346)Tat>Cat	p.Y1782H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1782	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						ACTGACTGATTATATCAATGC	0.303																																						ENST00000393386.2																			0				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						c.(5344-5346)Tat>Cat		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							110	106	107					7																	121676713		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121676713T>C	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.5344T>C	7.37:g.121676713T>C	ENSP00000377047:p.Tyr1782His					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H	p.Y1782H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			18	5755	+			1782			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5344T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699533	0.88830	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46451	0.87;0.87	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.56097	D	0.000027	T	0.80904	0.4713	H	0.99689	4.705	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	0.89784	0.3963	10	0.87932	D	0	.	15.6005	0.76620	0.0:0.0:0.0:1.0	.	921;915;1782	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	H	1782;915	ENSP00000377047:Y1782H;ENSP00000410000:Y915H	ENSP00000377047:Y1782H	Y	+	1	0	PTPRZ1	121463949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.084000	0.62774	0.528000	0.53228	TAT		0.303	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		21	28	0	0	0	1	0	21	28					C	121676713	T	C	121676713	3	2	400	1	0	0	0	0	1	0	0	0	12814	1754	61	3	5414	3	PTPRZ1	7	121676713	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		121676713	37461950	17	35379											
EYA1	2138	broad.mit.edu	37	chr8	72156845	72156845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattagaacttacttctaagTcattaaaaaataaatgtgtg	5	4	2	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr8:72156845T>C	ENST00000340726.3	-	12	1772	c.1133A>G	c.(1132-1134)gAc>gGc	p.D378G	EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G|EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	378					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)			TACTTCTAAGTCATTAAAAAA	0.279																																						ENST00000340726.3																			0				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						c.(1132-1134)gAc>gGc		eyes absent homolog 1 (Drosophila)							38	39	38					8																	72156845		2202	4300	6502	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72156845T>C	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.1133A>G	8.37:g.72156845T>C	ENSP00000342626:p.Asp378Gly					EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G	p.D378G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		12	1772	-	Breast(64;0.046)		378					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1133A>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620849	0.87460	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.64	5.64	0.86602	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.999;0.994	D;D;D;D	0.79108	0.992;0.985;0.985;0.985	D	0.91663	0.5344	10	0.87932	D	0	-19.5901	15.8659	0.79063	0.0:0.0:0.0:1.0	.	372;305;345;378	A6NCB9;Q0P517;Q99502-2;Q99502	.;.;.;EYA1_HUMAN	G	378;378;346;345;372;344;377	ENSP00000373394:D378G;ENSP00000342626:D378G;ENSP00000373392:D345G;ENSP00000303221:D372G;ENSP00000373393:D344G;ENSP00000373395:D377G	ENSP00000303221:D372G	D	-	2	0	EYA1	72319399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.961000	0.87903	2.152000	0.67230	0.528000	0.53228	GAC		0.279	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		9	15	0	0	0	1	0	9	15					C	72156845	T	C	72156845	3	2	400	1	0	0	0	0	1	0	0	0	5328	1667	58	3	673	3	EYA1	8	72156845	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		72156845	74207177	18	35380											
CPEB3	22849	broad.mit.edu	37	chr10	93870871	93870872	+	Frame_Shift_Del	DEL	AG	AG	-													ggggcttgacacacacaggtAgagtttcccatcttcttcta					rs369944745		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr10:93870871_93870872delAG	ENST00000265997.4	-	7	1705_1706	c.1533_1534delCT	c.(1531-1536)ctctacfs	p.Y512fs	CPEB3_ENST00000412050.4_Frame_Shift_Del_p.Y498fs	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	512	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|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)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACACACAGGTAGAGTTTCCCAT	0.465																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1489-1494)ctacfs		cytoplasmic polyadenylation element binding protein 3																																				SO:0001589	frameshift_variant	22849						nucleotide binding|RNA binding	g.chr10:93870871_93870872delAG	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1533_1534delCT	10.37:g.93870873_93870874delAG	ENSP00000265997:p.Tyr512fs					CPEB3_ENST00000265997.4_Frame_Shift_Del_p.LY511fs	p.LY497fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			7	1579_1580	-		Colorectal(252;0.0869)	511			RRM 1.		Q5T389|Q9NQJ7|Q9Y2E9	Frame_Shift_Del	DEL	ENST00000265997.4	37	c.1491_1492delCT	CCDS31246.1																																																																																				0.465	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		17	132						17	132	---	---	---	---	-	93870872	AG	-	93870871	7	5	400	1	0	1	0	1	0	0	0	0	3802	420	15	0	578	0	CPEB3	10	93870871	Frame_Shift_Del	DEL	AG	TCGA-R8-A6MK-01A-11D-A32B-08		93870871	41663876	19	35381											
SLC22A20	823	broad.mit.edu	37	chr11	64981480	64981481	+	IGR	INS	-	-	C													cagaacttcacggccgctgtINSccccccccaccactgccggg							TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:64981480_64981481insC	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						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)		ACGGCCGCTGTCCCCCCCCACC	0.693																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8																																												SO:0001628	intergenic_variant	0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64981480_64981481insC	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		11.37:g.64981488_64981488dupC										A6NK97	S22AK_HUMAN			0	170_171	+								Q2TTR0|Q6DHV4	RNA	INS	ENST00000527323.1	37		CCDS44644.1																																																																																				0.693	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			2	4						2	4	---	---	---	---	C	64981481	-	C	64981480	6	5	400	0	1	1	1	0	0	0	0	0	14451	1667	58	0		0	SLC22A20	11	64981480	IGR	INS	-	TCGA-R8-A6MK-01A-11D-A32B-08		64981480	70025036	20	35382											
CCS	9973	broad.mit.edu	37	chr11	66368006	66368006	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatctcatgggggccccCaggactctgaccgggtaagt	14	12	2	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:66368006C>T	ENST00000533244.1	+	5	916	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140*	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	159	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						TGGGGGCCCCCAGGACTCTGA	0.562																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(475-477)Cag>Tag		copper chaperone for superoxide dismutase							108	108	108					11																	66368006		2200	4295	6495	SO:0001587	stop_gained	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66368006C>T	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.475C>T	11.37:g.66368006C>T	ENSP00000436318:p.Gln159*					CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140*	p.Q159*	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			5	916	+			159			Superoxide dismutase-like.		Q2M366|Q8NEV0	Nonsense_Mutation	SNP	ENST00000533244.1	37	c.475C>T	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607363	0.87157	.	.	ENSG00000173992	ENST00000533244;ENST00000310190	.	.	.	5.23	0.893	0.19236	.	0.672019	0.16180	N	0.225891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.3033	0.32027	0.2963:0.3106:0.3931:0.0	.	.	.	.	X	159;140	.	ENSP00000307870:Q140X	Q	+	1	0	CCS	66124582	0.252000	0.23972	0.865000	0.33974	0.939000	0.58152	0.579000	0.23788	0.357000	0.24183	0.655000	0.94253	CAG		0.562	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		4	70	0	0	0	1	0	4	70					T	66368006	C	T	66368006	4	4	400	1	0	0	0	0	0	1	0	0	2952	595	21	2	493	2	CCS	11	66368006	Nonsense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	1386526	66368006	68638510	21	35383											
KRT6A	3853	broad.mit.edu	37	chr12	52886575	52886575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggtgacctcttggatgcctCcaggggggcacacagggaag	16	11	1	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:52886575C>T	ENST00000330722.6	-	1	466	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	133	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGATGCCTCCAGGGGGGCA	0.632																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(397-399)gGa>gAa		keratin 6A							66	64	64					12																	52886575		2203	4297	6500	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886575C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.398G>A	12.37:g.52886575C>T	ENSP00000369317:p.Gly133Glu						p.G133E	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	466	-			133			Head.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.398G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484751	0.84854	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.93906	-3.31	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000017	D	0.97636	0.9225	H	0.94771	3.58	0.52501	D	0.999959	D	0.76494	0.999	D	0.72625	0.978	D	0.98505	1.0616	10	0.72032	D	0.01	.	17.444	0.87573	0.0:1.0:0.0:0.0	.	133	P02538	K2C6A_HUMAN	E	133;89	ENSP00000369317:G133E	ENSP00000369317:G133E	G	-	2	0	KRT6A	51172842	0.979000	0.34478	1.000000	0.80357	0.992000	0.81027	2.165000	0.42396	2.626000	0.88956	0.549000	0.68633	GGA		0.632	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		22	23	0	0	0	1	0	22	23					T	52886575	C	T	52886575	3	4	400	1	0	0	0	0	1	0	0	0	8480	855	30	2	1332	2	KRT6A	12	52886575	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		52886575	80965320	22	35384											
LRP1	4035	broad.mit.edu	37	chr12	57589082	57589084	+	In_Frame_Del	DEL	CTC	CTC	-													acgtgcggcccctcctccttCtcctgccctggcacccacgt							TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:57589082_57589084delCTC	ENST00000243077.3	+	52	8803_8805	c.8337_8339delCTC	c.(8335-8340)ttctcc>ttc	p.S2780del	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2780	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCTCCTTCTCCTGCCCTGGC	0.611																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8335-8340)ttc>tt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57589082_57589084delCTC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8337_8339delCTC	12.37:g.57589082_57589084delCTC	ENSP00000243077:p.Ser2780del						p.FS2779del	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	52	8803_8805	+			2779			LDL-receptor class A 17.		Q2PP12|Q86SW0|Q8IVG8	In_Frame_Del	DEL	ENST00000243077.3	37	c.8337_8339delCTC	CCDS8932.1																																																																																				0.611	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		58	132						58	132	---	---	---	---	-	57589084	CTC	-	57589082	7	5	400	1	0	1	0	1	0	0	0	0	8951	912	32	0	8543	0	LRP1	12	57589082	In_Frame_Del	DEL	CTC	TCGA-R8-A6MK-01A-11D-A32B-08	4702507	57589082	76262813	23	35385											
CUX2	23316	broad.mit.edu	37	chr12	111748437	111748437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgaagcagttcctgtcGgatgagcagaatgtactggc	13	7	0	4	rs374551900		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:111748437G>A	ENST00000261726.6	+	15	2005	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	617					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGTTCCTGTCGGATGAGCAGA	0.652																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1849-1851)tcG>tcA		cut-like homeobox 2		A		1,4149		0,1,2074	40	44	42		1851	-10	0.6	12		42	0,8416		0,0,4208	no	coding-synonymous	CUX2	NM_015267.3		0,1,6282	AA,AG,GG		0.0,0.0241,0.0080		617/1487	111748437	1,12565	2075	4208	6283	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748437G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1851G>A	12.37:g.111748437G>A							p.S617S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			15	2005	+			617					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1851G>A	CCDS41837.1																																																																																				0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		27	28	0	0	0	1	0	27	28					A	111748437	G	A	111748437	2	1	400	1	0	0	0	0	0	0	0	1	4065	1103	39	1		1	CUX2	12	111748437	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	54159355	111748437	22103458	24	35386											
NEDD4	4734	broad.mit.edu	37	chr15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaccatccaacagtttgCcatgataaactgccattcca	4	13	0	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)		CAACAGTTTGCCATGATAAAC	0.338																																						ENST00000508342.1																			0				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						c.(3202-3204)gGc>gAc		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							116	119	118					15																	56132818		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132818C>T	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.3203G>A	15.37:g.56132818C>T	ENSP00000424827:p.Gly1068Asp					NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D	p.G1068D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	16	3502	-			1068			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3203G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067510|5.067510	0.93898|0.93898	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77	5.99|5.99	5.99|5.99	0.97316|0.97316	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77157|0.77157	0.4089|0.4089	M|M	0.91140|0.91140	3.18|3.18	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	.|0.91635	.|0.999;0.997;0.999;0.999	T|T	0.81090|0.81090	-0.1090|-0.1090	5|10	.|0.87932	.|D	.|0	.|.	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1052;649;1068;996	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	T|D	659|1068;649;996;1052	.|ENSP00000424827:G1068D;ENSP00000410613:G649D;ENSP00000345530:G996D;ENSP00000422705:G1052D	.|ENSP00000345530:G996D	A|G	-|-	1|2	0|0	NEDD4|NEDD4	53920110|53920110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.815000|7.815000	0.86186|0.86186	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	115	0	0	0	1	0	4	115					T	56132818	C	T	56132818	3	4	400	1	0	0	0	0	1	0	0	0	10310	739	26	2	796	2	NEDD4	15	56132818	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		56132818	46398574	25	35387											
IFT140	9742	broad.mit.edu	37	chr16	1570263	1570263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtagttagcagccatgaTgtagatttccttctgcctgg	11	9	1	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:1570263T>C	ENST00000426508.2	-	28	4105	c.3742A>G	c.(3742-3744)Atc>Gtc	p.I1248V	IFT140_ENST00000361339.5_Missense_Mutation_p.I442V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1248					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)				GCAGCCATGATGTAGATTTCC	0.577																																						ENST00000426508.2																			0				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						c.(3742-3744)Atc>Gtc		intraflagellar transport 140 homolog (Chlamydomonas)							146	139	141					16																	1570263		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570263T>C	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.3742A>G	16.37:g.1570263T>C	ENSP00000406012:p.Ile1248Val					IFT140_ENST00000361339.5_Missense_Mutation_p.I442V	p.I1248V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			28	4105	-		Hepatocellular(780;0.219)	1248					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3742A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	9.602	1.129065	0.21041	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.50001	0.76;0.76	5.98	-0.127	0.13510	.	0.305580	0.35262	N	0.003328	T	0.21186	0.0510	N	0.11131	0.1	0.53005	D	0.999961	B;B	0.18013	0.014;0.025	B;B	0.18871	0.007;0.023	T	0.25745	-1.0123	10	0.06099	T	0.92	.	9.9104	0.41401	0.0:0.3498:0.0:0.6502	.	1248;935	Q96RY7;B4DR58	IF140_HUMAN;.	V	1248;442;1248	ENSP00000354895:I442V;ENSP00000406012:I1248V	ENSP00000354895:I442V	I	-	1	0	IFT140	1510264	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	0.996000	0.29719	-0.274000	0.09232	0.529000	0.55759	ATC		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		50	65	0	0	0	1	0	50	65					C	1570263	T	C	1570263	3	2	400	1	0	0	0	0	1	0	0	0	7556	1464	51	3	662	3	IFT140	16	1570263	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		1570263	88784490	26	35388											
PPL	5493	broad.mit.edu	37	chr16	4935555	4935557	+	In_Frame_Del	DEL	AGG	AGG	-													gggcggccacacgctgctgcAggaggagcacctctgcctcc							TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:4935555_4935557delAGG	ENST00000345988.2	-	22	3188_3190	c.3099_3101delCCT	c.(3097-3102)ctcctg>ctg	p.1033_1034LL>L	PPL_ENST00000590782.2_In_Frame_Del_p.1031_1032LL>L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1033					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGCTGCTGCAGGAGGAGCACCT	0.66																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3097-3102)ctg>ct		periplakin																																				SO:0001651	inframe_deletion	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935555_4935557delAGG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3099_3101delCCT	16.37:g.4935558_4935560delAGG	ENSP00000340510:p.Leu1034del					PPL_ENST00000590782.2_In_Frame_Del_p.LL1031del	p.LL1033del	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3188_3190	-			1033					O60314|O60454|Q14C98	In_Frame_Del	DEL	ENST00000345988.2	37	c.3099_3101delCCT	CCDS10526.1																																																																																				0.66	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	59						24	59	---	---	---	---	-	4935557	AGG	-	4935555	7	5	400	1	0	1	0	1	0	0	0	0	12334	188	7	0	2173	0	PPL	16	4935555	In_Frame_Del	DEL	AGG	TCGA-R8-A6MK-01A-11D-A32B-08	3365292	4935555	85419198	27	35389											
RBBP6	5930	broad.mit.edu	37	chr16	24582708	24582709	+	Frame_Shift_Del	DEL	AA	AA	-													tgaatgaacaaggaaattttAaaagtctgtctcaatcttcc					rs140198744	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:24582708_24582709delAA	ENST00000319715.4	+	18	4753_4754	c.4321_4322delAA	c.(4321-4323)aaafs	p.K1441fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1441	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGAAATTTTAAAAGTCTGTCT	0.391																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4321-4323)afs		retinoblastoma binding protein 6																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582708_24582709delAA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4321_4322delAA	16.37:g.24582710_24582711delAA	ENSP00000317872:p.Lys1441fs					RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs	p.K1441fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	4753_4754	+			1441			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	c.4321_4322delAA	CCDS10621.1																																																																																				0.391	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		25	81						25	81	---	---	---	---	-	24582709	AA	-	24582708	7	5	400	1	0	1	0	1	0	0	0	0	13103	363	13	0	4445	0	RBBP6	16	24582708	Frame_Shift_Del	DEL	AA	TCGA-R8-A6MK-01A-11D-A32B-08	19647153	24582708	65772045	28	35390											
ATP2A1	487	broad.mit.edu	37	chr16	28909640	28909640	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggggccggtgaaggaaaaGatcatggcggtgatcaagga	17	6	2	3			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:28909640G>A	ENST00000357084.3	+	14	1899	c.1632G>A	c.(1630-1632)aaG>aaA	p.K544K	ATP2A1_ENST00000536376.1_Silent_p.K419K|ATP2A1_ENST00000395503.4_Silent_p.K544K	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	544					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						TGAAGGAAAAGATCATGGCGG	0.652																																						ENST00000395503.4																			0				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						c.(1630-1632)aaG>aaA		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							58	65	63					16																	28909640		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909640G>A		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.1632G>A	16.37:g.28909640G>A						ATP2A1_ENST00000536376.1_Silent_p.K419K|ATP2A1_ENST00000357084.3_Silent_p.K544K	p.K544K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1816	+			544					A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1632G>A	CCDS10643.1																																																																																				0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		6	84	0	0	0	1	0	6	84					A	28909640	G	A	28909640	2	1	400	1	0	0	0	0	0	0	0	1	1136	933	33	2		2	ATP2A1	16	28909640	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	4326932	28909640	61445113	29	35391											
GEMIN4	50628	broad.mit.edu	37	chr17	648477	648477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgaccacgtggttccAgccttccagaggaagccaat	11	11	0	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:648477A>G	ENST00000319004.5	-	2	2924	c.2806T>C	c.(2806-2808)Tgg>Cgg	p.W936R	GEMIN4_ENST00000576778.1_Missense_Mutation_p.W925R	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	936					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)				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)		ACGTGGTTCCAGCCTTCCAGA	0.577																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(2773-2775)Tgg>Cgg		gem (nuclear organelle) associated protein 4							16	17	16					17																	648477		1938	4127	6065	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:648477A>G	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.2806T>C	17.37:g.648477A>G	ENSP00000321706:p.Trp936Arg					GEMIN4_ENST00000319004.5_Missense_Mutation_p.W936R	p.W925R			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	4114	-		Myeloproliferative disorder(207;0.204)	936					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.2773T>C	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261561	0.59431	.	.	ENSG00000179409	ENST00000319004	T	0.14391	2.51	5.83	5.83	0.93111	.	0.136473	0.56097	D	0.000022	T	0.33118	0.0852	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05305	-1.0893	10	0.72032	D	0.01	-8.3213	9.8036	0.40779	0.9242:0.0:0.0758:0.0	.	936	P57678	GEMI4_HUMAN	R	936	ENSP00000321706:W936R	ENSP00000321706:W936R	W	-	1	0	GEMIN4	595227	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.519000	0.81809	2.235000	0.73313	0.533000	0.62120	TGG		0.577	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		2	2	0	0	0	1	0	2	2					G	648477	A	G	648477	3	3	400	1	0	0	0	0	1	0	0	0	6330	188	7	3	374	3	GEMIN4	17	648477	Missense_Mutation	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08		648477	80546733	30	35392											
CACNA1G	8913	broad.mit.edu	37	chr17	48646633	48646633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagacacttggaaccgGcttgactttttcatcgtcat	10	10	2	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:48646633G>A	ENST00000359106.5	+	3	462	c.462G>A	c.(460-462)cgG>cgA	p.R154R	CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R|CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000352832.5_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	154					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)			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)	CTTGGAACCGGCTTGACTTTT	0.562																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(460-462)cgG>cgA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						128	125	126					17																	48646633		1985	4168	6153	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48646633G>A	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.462G>A	17.37:g.48646633G>A						CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000359106.5_Silent_p.R154R	p.R154R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		3	834	+	Breast(11;6.7e-17)		154					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	Silent	SNP	ENST00000359106.5	37	c.462G>A	CCDS45730.1																																																																																				0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	65	0	0	0	1	0	4	65					A	48646633	G	A	48646633	2	1	400	1	0	0	0	0	0	0	0	1	2544	1190	42	2		2	CACNA1G	17	48646633	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	47998156	48646633	32548577	31	35393											
MC2R	4158	broad.mit.edu	37	chr18	13884744	13884744	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaacatgccgttcacctgGaagagagacatgtagcaggc	11	10	2	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:13884744G>A	ENST00000327606.3	-	2	954	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	258					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGTTCACCTGGAAGAGAGACA	0.517																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(772-774)ttC>ttT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						103	93	96					18																	13884744		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884744G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.774C>T	18.37:g.13884744G>A							p.F258F	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	954	-			258					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.774C>T	CCDS11869.1																																																																																				0.517	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			29	30	0	0	0	1	0	29	30					A	13884744	G	A	13884744	2	1	400	1	0	0	0	0	0	0	0	1	9364	1165	41	2		2	MC2R	18	13884744	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		13884744	64192504	32	35394											
CTAGE1	64693	broad.mit.edu	37	chr18	19995803	19995803	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggaggaacaaagccagGgccagttgcttcattttcag	13	8	2	0			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:19995803G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.P658S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ACAAAGCCAGGGCCAGTTGCT	0.463																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1972-1974)Cct>Tct		cutaneous T-cell lymphoma-associated antigen 1							125	138	134					18																	19995803		2203	4298	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995803G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995803G>A	Exception_encountered						p.P658S	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	2075	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		658			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1972C>T		.	.	.	.	.	.	.	.	.	.	G	9.174	1.021926	0.19433	.	.	ENSG00000212710	ENST00000391403	T	0.09350	2.99	0.614	0.614	0.17603	.	.	.	.	.	T	0.12092	0.0294	L	0.55990	1.75	0.09310	N	1	P	0.40602	0.723	B	0.42112	0.376	T	0.19192	-1.0313	7	.	.	.	.	.	.	.	.	658	Q96RT6	CTGE2_HUMAN	S	658	ENSP00000375220:P658S	.	P	-	1	0	CTAGE1	18249801	0.194000	0.23325	0.056000	0.19401	0.080000	0.17528	0.218000	0.17622	0.581000	0.29539	0.298000	0.19748	CCT		0.463	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		10	278	0	0	0	1	0	10	278					A	19995803	G	A	19995803	1	1	400	0	1	0	0	0	0	0	0	0	3992	1232	43	2		2	CTAGE1	18	19995803	5'Flank	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	6111059	19995803	58081445	33	35395											
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-													ctggacggcggagaagtagaCagtcaggcgctacaggaact							TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:42793215_42793218delCAGT	ENST00000575354.2	+	7	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.DS369fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.DS1278fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					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)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3832-3837)gafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793215_42793218delCAGT	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.1107_1110delCAGT	19.37:g.42793215_42793218delCAGT	ENSP00000458663:p.Asp369fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	p.DS1278fs			Q96RK0	CIC_HUMAN			8	3902_3905	+		Prostate(69;0.00682)	369			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3834_3837delCAGT	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	74						12	74	---	---	---	---	-	42793218	CAGT	-	42793215	7	5	400	1	0	1	0	1	0	0	0	0	3424	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-R8-A6MK-01A-11D-A32B-08		42793215	16335768	34	35396											
ZNF135	7694	broad.mit.edu	37	chr19	58578565	58578568	+	Frame_Shift_Del	DEL	GAGA	GAGA	-													acaccaccggacgcacacagGagagagaccttacgaatgtc					rs200166263		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:58578565_58578568delGAGA	ENST00000313434.5	+	5	814_817	c.713_716delGAGA	c.(712-717)ggagagfs	p.GE238fs	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000506786.1_Frame_Shift_Del_p.GE196fs|ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs|ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	238					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGCACACAGGAGAGAGACCTTAC	0.475																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(586-591)ggfs		zinc finger protein 135																																				SO:0001589	frameshift_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578565_58578568delGAGA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.713_716delGAGA	19.37:g.58578569_58578572delGAGA	ENSP00000321406:p.Gly238fs					ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000313434.5_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs	p.GE196fs			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1141_1144	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	250					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Frame_Shift_Del	DEL	ENST00000313434.5	37	c.587_590delGAGA																																																																																					0.475	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		17	86						17	86	---	---	---	---	-	58578568	GAGA	-	58578565	7	5	400	1	0	1	0	1	0	0	0	0	17722	1174	41	0	916	0	ZNF135	19	58578565	Frame_Shift_Del	DEL	GAGA	TCGA-R8-A6MK-01A-11D-A32B-08	15785350	58578565	550418	35	35397											
FAM167B	84734	broad.mit.edu	37	chr1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccagagccaggcctggcGcagggcccaagccaaacctg	14	15	0	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637																																						ENST00000373582.3																			1	Substitution - Missense(1)	p.R56H(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(166-168)cGc>cAc		family with sequence similarity 167, member B							35	45	42					1																	32713189		1949	4132	6081	SO:0001583	missense	84734							g.chr1:32713189G>A	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.167G>A	1.37:g.32713189G>A	ENSP00000362684:p.Arg56His						p.R56H	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	356	+			56					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.167G>A	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	9.421	1.083135	0.20309	.	.	ENSG00000183615	ENST00000373582	T	0.62639	0.01	5.32	-5.07	0.02938	.	1.202870	0.06305	U	0.701525	T	0.38480	0.1042	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.26408	T	0.33	-3.3016	8.7233	0.34454	0.5466:0.0:0.3569:0.0965	.	56	Q9BTA0	F167B_HUMAN	H	56	ENSP00000362684:R56H	ENSP00000362684:R56H	R	+	2	0	FAM167B	32485776	0.000000	0.05858	0.005000	0.12908	0.713000	0.41058	-0.761000	0.04751	-0.931000	0.03746	-0.258000	0.10820	CGC		0.637	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		7	30	0	0	0	1	0	7	30					A	32713189	G	A	32713189	3	1	401	1	0	0	0	0	1	0	0	0	5484	1087	38	1	169	1	FAM167B	1	32713189	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		32713189	216537432	1	35398											
SYCP1	6847	broad.mit.edu	37	chr1	115520223	115520224	+	Frame_Shift_Ins	INS	-	-	A													aaacacagctactcttaaagINSaaaaaaaagacaaggtaaga							TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:115520223_115520224insA	ENST00000369522.3	+	28	2608_2609	c.2368_2369insA	c.(2368-2370)gaafs	p.E790fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.E790fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	790					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)		TACTCTTAAAGAAAAAAAAGAC	0.252																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				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						c.(2368-2370)aaafs		synaptonemal complex protein 1																																				SO:0001589	frameshift_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115520223_115520224insA	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.2376dupA	1.37:g.115520231_115520231dupA	ENSP00000358535:p.Glu790fs					SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.K790fs	p.K790fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		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)	28	2608_2609	+	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)	790					O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	c.2368_2369insA	CCDS879.1																																																																																				0.252	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		2	4						2	4	---	---	---	---	A	115520224	-	A	115520223	7	5	401	1	0	1	1	0	0	0	0	0	15428	943	33	0	2474	0	SYCP1	1	115520223	Frame_Shift_Ins	INS	-	TCGA-R8-A6ML-01A-11D-A32B-08	82807034	115520223	133730398	2	35399											
TCHH	7062	broad.mit.edu	37	chr1	152082449	152082449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagctcctcttcctTccgatattgcctctccagct	6	17	2	0	rs199978971		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:152082449T>C	ENST00000368804.1	-	2	3243	c.3244A>G	c.(3244-3246)Aag>Gag	p.K1082E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1082	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.K1082E(1)		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)			tcctcttccttccgatattgc	0.607																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.K1082E(1)	endometrium(1)	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						c.(3244-3246)Aag>Gag		trichohyalin							102	106	105					1																	152082449		1986	4156	6142	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082449T>C	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.3244A>G	1.37:g.152082449T>C	ENSP00000357794:p.Lys1082Glu						p.K1082E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3243	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1082			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3244A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	6.939	0.543097	0.13250	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	2.92	-0.391	0.12446	.	.	.	.	.	T	0.00412	0.0013	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44221	-0.9342	9	0.02654	T	1	-0.0583	2.25	0.04041	0.1808:0.3455:0.3555:0.1182	.	1082	Q07283	TRHY_HUMAN	E	1082	ENSP00000357794:K1082E	ENSP00000357794:K1082E	K	-	1	0	TCHH	150349073	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.878000	0.00716	-0.354000	0.08212	-0.413000	0.06143	AAG		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	305	0	0	0	1	0	5	305					C	152082449	T	C	152082449	3	2	401	1	0	0	0	0	1	0	0	0	15697	1792	62	3	2591	3	TCHH	1	152082449	Missense_Mutation	SNP	T	TCGA-R8-A6ML-01A-11D-A32B-08	36562226	152082449	97168172	3	35400											
FAM71A	149647	broad.mit.edu	37	chr1	212798743	212798743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactaatttacctcttgcGgccacccatggagagtaaca	7	11	1	1	rs201312997		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:212798743G>A	ENST00000294829.3	+	1	955	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175						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)		TACCTCTTGCGGCCACCCATG	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22187	0.0		0.0	False		,,,				2504	0.0					ENST00000294829.3																			0				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						c.(523-525)cGg>cAg		family with sequence similarity 71, member A							109	114	112					1																	212798743		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798743G>A		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.524G>A	1.37:g.212798743G>A	ENSP00000294829:p.Arg175Gln					RP11-338C15.5_ENST00000427949.1_RNA	p.R175Q	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	955	+			175					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.524G>A	CCDS1507.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.196	0.404307	0.11754	.	.	ENSG00000162771	ENST00000294829	T	0.20200	2.09	4.54	1.58	0.23477	.	0.279284	0.23893	N	0.043524	T	0.15392	0.0371	L	0.46947	1.48	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.18335	-1.0340	10	0.41790	T	0.15	-6.1149	4.1224	0.10111	0.1946:0.0:0.6224:0.183	.	175	Q8IYT1	FA71A_HUMAN	Q	175	ENSP00000294829:R175Q	ENSP00000294829:R175Q	R	+	2	0	FAM71A	210865366	0.059000	0.20769	0.001000	0.08648	0.173000	0.22820	0.734000	0.26101	0.249000	0.21456	-0.222000	0.12452	CGG		0.517	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		85	128	0	0	0	1	0	85	128					A	212798743	G	A	212798743	3	1	401	1	0	0	0	0	1	0	0	0	5607	1116	39	1	526	1	FAM71A	1	212798743	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	60716294	212798743	36451878	4	35401											
IAH1	285148	broad.mit.edu	37	chr2	9628441	9628441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaattaagtctgctgGgagatggagaccattagcca	11	8	1	3			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:9628441G>C	ENST00000497473.1	+	6	767	c.730G>C	c.(730-732)Gga>Cga	p.G244R	IAH1_ENST00000482918.1_Missense_Mutation_p.G131R|IAH1_ENST00000470914.1_Missense_Mutation_p.G131R|IAH1_ENST00000545602.1_Missense_Mutation_p.G131R	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	244					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGTCTGCTGGGAGATGGAGA	0.453																																						ENST00000470914.1																			0				breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						c.(391-393)Gga>Cga		isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)							94	84	87					2																	9628441		1902	4126	6028	SO:0001583	missense	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9628441G>C	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.730G>C	2.37:g.9628441G>C	ENSP00000417580:p.Gly244Arg					IAH1_ENST00000497473.1_Missense_Mutation_p.G244R|IAH1_ENST00000545602.1_Missense_Mutation_p.G131R|IAH1_ENST00000482918.1_Missense_Mutation_p.G131R	p.G131R			Q2TAA2	IAH1_HUMAN			5	707	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		244					B4DMV3	Missense_Mutation	SNP	ENST00000497473.1	37	c.391G>C	CCDS42651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.787707|4.787707	0.90367|0.90367	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602|ENST00000481367	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.304180|.	0.36665|.	N|.	0.002476|.	T|T	0.59985|0.59985	0.2234|0.2234	L|L	0.36672|0.36672	1.1|1.1	0.43550|0.43550	D|D	0.995854|0.995854	D|.	0.64830|.	0.994|.	P|.	0.59889|.	0.865|.	T|T	0.53012|0.53012	-0.8498|-0.8498	9|5	0.54805|.	T|.	0.06|.	-22.5588|-22.5588	16.8787|16.8787	0.86058|0.86058	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244|.	Q2TAA2|.	IAH1_HUMAN|.	R|C	131;244;131;131|223	.|.	ENSP00000419224:G131R|.	G|W	+|+	1|3	0|0	IAH1|IAH1	9545892|9545892	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	.|.	.|.	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.453	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		4	75	0	0	0	1	0	4	75					C	9628441	G	C	9628441	3	2	401	1	0	0	0	0	1	0	0	0	7471	1233	43	4	752	4	IAH1	2	9628441	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		9628441	233570932	5	35402											
NT5C1B	93034	broad.mit.edu	37	chr2	18768318	18768318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacatgtgaatataaataCgtattgtgtggcaggggcca	13	6	0	1	rs150116798	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:18768318C>T	ENST00000359846.2	-	3	319	c.242G>A	c.(241-243)cGt>cAt	p.R81H	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	81					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATATAAATACGTATTGTGTG	0.547													C|||	11	0.00219649	0.0	0.0058	5008	,	,		18776	0.0		0.007	False		,,,				2504	0.0					ENST00000359846.2																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(241-243)cGt>cAt		5'-nucleotidase, cytosolic IB		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,HIS/ARG,	10,4396	16.8+/-37.8	0,10,2193	64	56	59		242,191,242,242,,242,	3.5	1	2	dbSNP_134	59	56,8544	35.9+/-90.5	0,56,4244	yes	missense,missense,missense,missense,intron,missense,intron	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	29,29,29,29,,29,	0,66,6437	TT,TC,CC		0.6512,0.227,0.5075	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,,possibly-damaging,	81/611,64/594,81/628,81/613,,81/603,	18768318	66,12940	2203	4300	6503	SO:0001583	missense	93034							g.chr2:18768318C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.242G>A	2.37:g.18768318C>T	ENSP00000352904:p.Arg81His					NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000304081.4_Intron|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H	p.R81H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1					3	319	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.242G>A	CCDS33150.1	8	0.003663003663003663	0	0.0	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	C	18.31	3.596981	0.66332	0.00227	0.006512	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000359846;ENST00000416783	.	.	.	5.31	3.45	0.39498	.	0.458928	0.18718	N	0.133104	T	0.16599	0.0399	N	0.14661	0.345	0.23820	N	0.996754	B;D;B;B;B	0.58620	0.015;0.983;0.015;0.015;0.025	B;P;B;B;B	0.49387	0.003;0.609;0.003;0.003;0.008	T	0.03423	-1.1038	9	0.87932	D	0	-3.4805	7.3162	0.26501	0.0:0.7405:0.1692:0.0903	.	64;81;64;81;81	E7EXB7;B4DZ86;B4DXZ9;Q96P26;Q96P26-4	.;.;.;5NT1B_HUMAN;.	H	81	.	ENSP00000352904:R81H	R	-	2	0	NT5C1B-RDH14;NT5C1B	18631799	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.738000	0.26158	1.496000	0.48567	-0.218000	0.12543	CGT		0.547	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			16	39	0	0	0	1	0	16	39					T	18768318	C	T	18768318	3	4	401	1	0	0	0	0	1	0	0	0	10686	536	19	1	1622	1	NT5C1B	2	18768318	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	9139877	18768318	224431055	6	35403											
SGOL2	151246	broad.mit.edu	37	chr2	201437641	201437641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatttctgaaaatctacaaGtcacaaatgaatttcaaaca	3	8	4	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201437641G>T	ENST00000357799.4	+	7	2670	c.2572G>T	c.(2572-2574)Gtc>Ttc	p.V858F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	858					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATCTACAAGTCACAAATGA	0.299																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2572-2574)Gtc>Ttc		shugoshin-like 2 (S. pombe)							85	83	84					2																	201437641		1805	4067	5872	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437641G>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2572G>T	2.37:g.201437641G>T	ENSP00000350447:p.Val858Phe						p.V858F	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2670	+			858					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2572G>T	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543782	0.04053	.	.	ENSG00000163535	ENST00000357799	T	0.12774	2.65	4.7	-0.773	0.10995	.	0.617668	0.13467	N	0.385735	T	0.08758	0.0217	N	0.22421	0.69	0.09310	N	1	B;B;P	0.36837	0.002;0.001;0.571	B;B;B	0.40659	0.007;0.007;0.336	T	0.25293	-1.0136	10	0.48119	T	0.1	4.8966	3.537	0.07798	0.4195:0.0:0.4064:0.1741	.	858;858;858	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	F	858	ENSP00000350447:V858F	ENSP00000350447:V858F	V	+	1	0	SGOL2	201145886	0.003000	0.15002	0.002000	0.10522	0.091000	0.18340	0.417000	0.21214	0.021000	0.15133	-0.224000	0.12420	GTC		0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		46	64	1	0	2.00842e-17	1	2.17237e-17	46	64					T	201437641	G	T	201437641	3	4	401	1	0	0	0	0	1	0	0	0	14217	1029	36	4	2594	4	SGOL2	2	201437641	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	182669323	201437641	41761732	7	35404											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	40	0	0	0	1	0	30	40					T	209113112	C	T	209113112	3	4	401	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	7675471	209113112	34086261	8	35405											
SEMA3G	56920	broad.mit.edu	37	chr3	52474396	52474396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcagatactcaccacGccagggcgagggaagggcac	13	15	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:52474396G>A	ENST00000231721.2	-	10	1139	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	380	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACTCACCACGCCAGGGCGAG	0.662																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(1138-1140)ggC>ggT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							21	22	22					3																	52474396		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52474396G>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1140C>T	3.37:g.52474396G>A							p.G380G	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	10	1139	-			380			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.1140C>T	CCDS2856.1																																																																																				0.662	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		16	14	0	0	0	1	0	16	14					A	52474396	G	A	52474396	2	1	401	1	0	0	0	0	0	0	0	1	14030	1074	38	1		1	SEMA3G	3	52474396	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		52474396	145548034	9	35406											
WDR52	55779	broad.mit.edu	37	chr3	113138965	113138965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccagctatgtatatggCgatactgtcgtccagaagtt	10	9	0	1	rs370318076		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:113138965C>T	ENST00000295868.2	-	5	631	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGTATATGGCGATACTGTCG	0.428																																						ENST00000393845.2																			2	Substitution - Missense(2)	p.A157T(2)	large_intestine(2)	breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(469-471)Gcc>Acc		WD repeat domain 52		C	THR/ALA,THR/ALA	0,4406		0,0,2203	133	122	126		469,469	-8	0	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR52	NM_001164496.1,NM_018338.3	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	157/1855,157/983	113138965	1,13005	2203	4300	6503	SO:0001583	missense	55779							g.chr3:113138965C>T																												ENST00000295868.2:c.469G>A	3.37:g.113138965C>T	ENSP00000295868:p.Ala157Thr					WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000473329.1_RNA	p.A157T	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			5	535	-			157						Missense_Mutation	SNP	ENST00000295868.2	37	c.469G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314456	0.23908	0.0	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.42513	5.04;0.97	5.44	-8.02	0.01118	.	.	.	.	.	T	0.15955	0.0384	L	0.29908	0.895	0.09310	N	1	P	0.36768	0.569	B	0.19148	0.024	T	0.16247	-1.0409	9	0.41790	T	0.15	.	0.1572	0.00099	0.2433:0.241:0.2158:0.2999	.	157	Q96MT7	WDR52_HUMAN	T	157	ENSP00000377428:A157T;ENSP00000295868:A157T	ENSP00000295868:A157T	A	-	1	0	WDR52	114621655	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.367000	0.02583	-0.990000	0.03481	-0.140000	0.14226	GCC		0.428	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			13	23	0	0	0	1	0	13	23					T	113138965	C	T	113138965	3	4	401	1	0	0	0	0	1	0	0	0	17301	768	27	1	5234	1	WDR52	3	113138965	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	60664569	113138965	84883465	10	35407											
SLIT2	9353	broad.mit.edu	37	chr4	20569157	20569157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcaggactgtgatgTcccaattcatgcctgcatca	11	12	2	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr4:20569157T>C	ENST00000504154.1	+	28	3119	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	956					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						GACTGTGATGTCCCAATTCAT	0.443																																						ENST00000504154.1																			0				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						c.(2866-2868)gTc>gCc		slit homolog 2 (Drosophila)							136	125	129					4																	20569157		2203	4299	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20569157T>C	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.2867T>C	4.37:g.20569157T>C	ENSP00000422591:p.Val956Ala					SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A|SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A	p.V956A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			28	3119	+			956					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2867T>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236928	0.39498	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;D;D;D	0.98313	-2.72;-2.72;-2.72;-2.72;-4.86	5.98	5.98	0.97165	.	0.363384	0.30329	N	0.009878	D	0.96119	0.8735	L	0.41415	1.275	0.32939	D	0.518189	B;B	0.10296	0.003;0.0	B;B	0.22152	0.038;0.007	D	0.95249	0.8358	10	0.18276	T	0.48	.	16.5257	0.84330	0.0:0.0:0.0:1.0	.	948;956	O94813-3;O94813	.;SLIT2_HUMAN	A	948;956;960;952;952;168	ENSP00000427548:V948A;ENSP00000422591:V956A;ENSP00000273739:V960A;ENSP00000422261:V952A;ENSP00000421975:V168A	ENSP00000273739:V960A	V	+	2	0	SLIT2	20178255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.547000	0.53663	2.301000	0.77427	0.524000	0.50904	GTC		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			30	41	0	0	0	1	0	30	41					C	20569157	T	C	20569157	3	2	401	1	0	0	0	0	1	0	0	0	14740	1667	58	3	2977	3	SLIT2	4	20569157	Missense_Mutation	SNP	T	TCGA-R8-A6ML-01A-11D-A32B-08		20569157	170585119	11	35408											
NIPBL	25836	broad.mit.edu	37	chr5	36953806	36953816	+	Frame_Shift_Del	DEL	GGGATATGCCC	GGGATATGCCC	-													ccagaaattcaggatgaatgGggatatgccccatgtcccca							TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:36953806_36953816delGGGATATGCCC	ENST00000282516.8	+	2	507_517	c.8_18delGGGATATGCCC	c.(7-18)ggggatatgcccfs	p.GDMP3fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	3					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)			AGGATGAATGGGGATATGCCCCATGTCCCCA	0.398																																						ENST00000282516.8																			0				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	GRCh37	CI076976	NIPBL	I		c.(7-18)gfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36953806_36953816delGGGATATGCCC	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.8_18delGGGATATGCCC	5.37:g.36953806_36953816delGGGATATGCCC	ENSP00000282516:p.Gly3fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		2	507_517	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		3					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.8_18delGGGATATGCCC	CCDS3920.1																																																																																				0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		9	119						9	119	---	---	---	---	-	36953816	GGGATATGCCC	-	36953806	7	5	401	1	0	1	0	1	0	0	0	0	10428	1232	43	0	10	0	NIPBL	5	36953806	Frame_Shift_Del	DEL	GGGATATGCCC	TCGA-R8-A6ML-01A-11D-A32B-08		36953806	143961454	12	35409											
F12	2161	broad.mit.edu	37	chr5	176833045	176833045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggggaagtggcagggctCcccggtgacagtgagaactg	18	8	0	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:176833045C>T	ENST00000253496.3	-	3	181	c.133G>A	c.(133-135)Gag>Aag	p.E45K	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	45	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_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)		Ethanolamine Oleate(DB06689)	TGGCAGGGCTCCCCGGTGACA	0.597									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(133-135)Gag>Aag		coagulation factor XII (Hageman factor)							84	84	84					5																	176833045		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176833045C>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.133G>A	5.37:g.176833045C>T	ENSP00000253496:p.Glu45Lys						p.E45K	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	181	-	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)	45			Fibronectin type-II.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.133G>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784536	0.49997	.	.	ENSG00000131187	ENST00000253496	D	0.85861	-2.04	5.31	4.43	0.53597	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.289558	0.24710	N	0.036240	T	0.77315	0.4112	L	0.41961	1.31	0.80722	D	1	B	0.18461	0.028	B	0.17979	0.02	T	0.68104	-0.5497	10	0.12430	T	0.62	.	10.3263	0.43796	0.0:0.9055:0.0:0.0945	.	45	P00748	FA12_HUMAN	K	45	ENSP00000253496:E45K	ENSP00000253496:E45K	E	-	1	0	F12	176765651	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.726000	0.47302	1.224000	0.43551	0.591000	0.81541	GAG		0.597	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			9	137	0	0	0	1	0	9	137					T	176833045	C	T	176833045	3	4	401	1	0	0	0	0	1	0	0	0	5339	864	30	2	1762	2	F12	5	176833045	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	139879239	176833045	4082215	13	35410											
NHLRC1	378884	broad.mit.edu	37	chr6	18121764	18121764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaaagaccatgagtgacCatgggcttcggtactggaaa	13	8	0	3			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:18121764C>T	ENST00000340650.3	-	1	1087	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	358					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)			CATGAGTGACCATGGGCTTCG	0.448																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(1072-1074)atG>atA		NHL repeat containing 1							82	83	83					6																	18121764		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18121764C>T	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.1074G>A	6.37:g.18121764C>T	ENSP00000345464:p.Met358Ile						p.M358I	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	1087	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	358					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.1074G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078285	0.07184	.	.	ENSG00000187566	ENST00000340650	D	0.88201	-2.35	5.76	-0.55	0.11825	Six-bladed beta-propeller, TolB-like (1);	0.670270	0.14901	N	0.291823	T	0.36166	0.0957	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50906	-0.8772	10	0.24483	T	0.36	-2.3186	0.5628	0.00682	0.3327:0.2684:0.1975:0.2014	.	358	Q6VVB1	NHLC1_HUMAN	I	358	ENSP00000345464:M358I	ENSP00000345464:M358I	M	-	3	0	NHLRC1	18229743	0.000000	0.05858	0.031000	0.17742	0.476000	0.33039	-0.424000	0.07025	-0.467000	0.06932	0.655000	0.94253	ATG		0.448	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			40	59	0	0	0	1	0	40	59					T	18121764	C	T	18121764	3	4	401	1	0	0	0	0	1	0	0	0	10405	594	21	2	117	2	NHLRC1	6	18121764	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		18121764	152993303	14	35411											
SOX4	6659	broad.mit.edu	37	chr6	21594926	21594926	+	Frame_Shift_Del	DEL	C	C	-													cgacccgagctggtgcaagaCcccgagtgggcacatcaagc							TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:21594926delC	ENST00000244745.1	+	1	955	c.161delC	c.(160-162)accfs	p.T54fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	54					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TGGTGCAAGACCCCGAGTGGG	0.687																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(160-162)acfs		SRY (sex determining region Y)-box 4							21	21	21					6																	21594926		2201	4299	6500	SO:0001589	frameshift_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21594926delC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.161delC	6.37:g.21594926delC	ENSP00000244745:p.Thr54fs					SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	955	+	Ovarian(93;0.163)		54						Frame_Shift_Del	DEL	ENST00000244745.1	37	c.161delC	CCDS4547.1																																																																																				0.687	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		8	4						8	4	---	---	---	---	-	21594926	C	-	21594926	7	5	401	1	0	1	0	1	0	0	0	0	14953	507	18	0	163	0	SOX4	6	21594926	Frame_Shift_Del	DEL	C	TCGA-R8-A6ML-01A-11D-A32B-08	3473162	21594926	149520141	15	35412											
VARS2	57176	broad.mit.edu	37	chr6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgactgaagcttttgtgCggctctacaaggcggggttg	15	8	1	2	rs200002496		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000416670.2_Missense_Mutation_p.R263W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000542001.1_Missense_Mutation_p.R123W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R263W(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(787-789)Cgg>Tgg		valyl-tRNA synthetase 2, mitochondrial							163	159	161					6																	30884915		1511	2709	4220	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30884915C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.787C>T	6.37:g.30884915C>T	ENSP00000316092:p.Arg263Trp					VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W	p.R263W			Q5ST30	SYVM_HUMAN			8	1419	+			263					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.787C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202930	0.79127	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.98	4.98	0.66077	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.137660	0.47852	D	0.000201	T	0.63873	0.2548	M	0.93106	3.38	0.41300	D	0.987033	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.73388	-0.3998	10	0.87932	D	0	-6.0214	15.7772	0.78232	0.0:1.0:0.0:0.0	.	263;293;263	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	W	263;263;123;263;293	ENSP00000316092:R263W;ENSP00000394802:R263W;ENSP00000438200:R123W;ENSP00000403749:R263W;ENSP00000441000:R293W	ENSP00000316092:R263W	R	+	1	2	VARS2	30992894	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.036000	0.49767	2.581000	0.87130	0.655000	0.94253	CGG		0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	168	0	0	0	1	0	4	168					T	30884915	C	T	30884915	3	4	401	1	0	0	0	0	1	0	0	0	17121	759	27	1	911	1	VARS2	6	30884915	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	9289989	30884915	140230152	16	35413											
IMPG1	3617	broad.mit.edu	37	chr6	76660681	76660681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgagccctggtactagCattgtctggtcagtggccat	13	9	2	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:76660681C>A	ENST00000369950.3	-	13	1611	c.1422G>T	c.(1420-1422)atG>atT	p.M474I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGGTACTAGCATTGTCTGGT	0.498																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1420-1422)atG>atT		interphotoreceptor matrix proteoglycan 1							188	179	182					6																	76660681		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660681C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1422G>T	6.37:g.76660681C>A	ENSP00000358966:p.Met474Ile					IMPG1_ENST00000369963.3_3'UTR	p.M474I	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1611	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	474						Missense_Mutation	SNP	ENST00000369950.3	37	c.1422G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	6.242	0.412766	0.11812	.	.	ENSG00000112706	ENST00000369950	T	0.18338	2.22	5.29	-2.42	0.06542	.	0.737168	0.12219	N	0.488569	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45454	-0.9260	10	0.25751	T	0.34	.	0.7971	0.01068	0.2047:0.3075:0.1852:0.3026	.	474	Q17R60	IMPG1_HUMAN	I	474	ENSP00000358966:M474I	ENSP00000358966:M474I	M	-	3	0	IMPG1	76717401	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.325000	0.07976	0.015000	0.14971	-0.484000	0.04775	ATG		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		4	78	1	0	1	1	1	4	78					A	76660681	C	A	76660681	3	1	401	1	0	0	0	0	1	0	0	0	7728	710	25	4	991	4	IMPG1	6	76660681	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	45775766	76660681	94454386	17	35414											
WDR27	253769	broad.mit.edu	37	chr6	170013708	170013708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgccaatggccgtggtcagGaaaaggttataagcctgagg	14	8	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:170013708G>A	ENST00000448612.1	-	22	2377	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	WDR27_ENST00000423258.1_Silent_p.F629F|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Silent_p.F756F	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	726						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)		CCGTGGTCAGGAAAAGGTTAT	0.498																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(2266-2268)ttC>ttT		WD repeat domain 27							89	88	88					6																	170013708		1916	4126	6042	SO:0001819	synonymous_variant	253769							g.chr6:170013708G>A	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.2268C>T	6.37:g.170013708G>A						WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.F756F|WDR27_ENST00000423258.1_Silent_p.F629F	p.F756F			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	22	2787	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	726					A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	c.2268C>T	CCDS47520.2																																																																																				0.498	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		17	20	0	0	0	1	0	17	20					A	170013708	G	A	170013708	2	1	401	1	0	0	0	0	0	0	0	1	17281	1165	41	2		2	WDR27	6	170013708	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	93353027	170013708	1101359	18	35415											
RBM28	55131	broad.mit.edu	37	chr7	127970947	127970947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactgttggagaagctcccCaagttcttcttcttctgagt	8	10	4	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:127970947C>T	ENST00000223073.2	-	10	1168	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	352	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G352L(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGAAGCTCCCCAAGTTCTTCT	0.428																																						ENST00000223073.1																			1	Substitution - Missense(1)	p.G352L(1)	lung(1)	breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1054-1056)Ggg>Agg		RNA binding motif protein 28							98	88	92					7																	127970947		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127970947C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1054G>A	7.37:g.127970947C>T	ENSP00000223073:p.Gly352Arg					RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	p.G352R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			10	1168	-			352			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1054G>A	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432960	0.62844	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.12879	2.64;2.64	5.52	4.63	0.57726	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098319	0.64402	D	0.000001	T	0.09024	0.0223	N	0.00793	-1.18	0.41672	D	0.989246	B;D	0.71674	0.025;0.998	B;D	0.69654	0.05;0.965	T	0.46091	-0.9216	10	0.09338	T	0.73	-20.0689	11.3677	0.49681	0.0:0.9128:0.0:0.0872	.	211;352	E9PDD9;Q9NW13	.;RBM28_HUMAN	R	352;211	ENSP00000223073:G352R;ENSP00000390517:G211R	ENSP00000223073:G352R	G	-	1	0	RBM28	127758183	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.805000	0.62561	2.599000	0.87857	0.655000	0.94253	GGG		0.428	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		26	47	0	0	0	1	0	26	47					T	127970947	C	T	127970947	3	4	401	1	0	0	0	0	1	0	0	0	13128	594	21	2	1265	2	RBM28	7	127970947	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		127970947	31167716	19	35416											
C7orf45	136263	broad.mit.edu	37	chr7	129856182	129856182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgcctccactgcaaaGccttgagaaccaacgaatgg	10	13	0	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:129856182G>A	ENST00000297819.3	+	3	658	c.607G>A	c.(607-609)Gcc>Acc	p.A203T		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	203						integral component of membrane (GO:0016021)											CCACTGCAAAGCCTTGAGAAC	0.483																																						ENST00000297819.3																			0											c.(607-609)Gcc>Acc		serine-rich single-pass membrane protein 1							136	136	136					7																	129856182		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129856182G>A	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.607G>A	7.37:g.129856182G>A	ENSP00000297819:p.Ala203Thr						p.A203T	NM_145268.3	NP_660311.1					3	658	+									Missense_Mutation	SNP	ENST00000297819.3	37	c.607G>A	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675198	0.67928	.	.	ENSG00000165120	ENST00000297819	T	0.58358	0.34	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000007	T	0.71937	0.3399	M	0.69823	2.125	0.41683	D	0.9893	D	0.89917	1.0	D	0.87578	0.998	T	0.75187	-0.3406	10	0.87932	D	0	-14.9162	16.0328	0.80593	0.0:0.0:1.0:0.0	.	203	Q8WWF3	CG045_HUMAN	T	203	ENSP00000297819:A203T	ENSP00000297819:A203T	A	+	1	0	C7orf45	129643418	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	4.973000	0.63763	2.566000	0.86566	0.491000	0.48974	GCC		0.483	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		98	122	0	0	0	1	0	98	122					A	129856182	G	A	129856182	3	1	401	1	0	0	0	0	1	0	0	0	2395	971	34	2	617	2	C7orf45	7	129856182	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	1885235	129856182	29282481	20	35417											
EN2	2020	broad.mit.edu	37	chr7	155255269	155255269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggttccagaacaagcgcGccaagatcaagaaggccacg	11	11	1	3			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:155255269G>A	ENST00000297375.4	+	2	1138	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	297					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	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)		GAACAAGCGCGCCAAGATCAA	0.597																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(889-891)Gcc>Acc		engrailed homeobox 2							84	75	78					7																	155255269		2203	4300	6503	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255269G>A		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"Homeoboxes / ANTP class : NKL subclass"	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.889G>A	7.37:g.155255269G>A	ENSP00000297375:p.Ala297Thr						p.A297T	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1138	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	297					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.889G>A	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363216	0.95877	.	.	ENSG00000164778	ENST00000297375	D	0.97089	-4.24	5.11	5.11	0.69529	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98742	1.0717	10	0.56958	D	0.05	-26.6242	18.4904	0.90844	0.0:0.0:1.0:0.0	.	297	P19622	HME2_HUMAN	T	297	ENSP00000297375:A297T	ENSP00000297375:A297T	A	+	1	0	EN2	154948030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.618000	0.83043	2.543000	0.85770	0.591000	0.81541	GCC		0.597	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		4	54	0	0	0	1	0	4	54					A	155255269	G	A	155255269	3	1	401	1	0	0	0	0	1	0	0	0	5110	1087	38	1	895	1	EN2	7	155255269	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	25399087	155255269	3883394	21	35418											
NOTCH1	4851	broad.mit.edu	37	chr9	139413213	139413213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggtgttgtggcaggtcCcgccgttctggcaggcattt	16	10	1	0			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr9:139413213C>T	ENST00000277541.6	-	6	1004	c.929G>A	c.(928-930)gGg>gAg	p.G310E	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; 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)		GTGGCAGGTCCCGCCGTTCTG	0.627			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(928-930)gGg>gAg		notch 1							41	52	48					9																	139413213		2201	4292	6493	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413213C>T	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.929G>A	9.37:g.139413213C>T	ENSP00000277541:p.Gly310Glu	HNSCC(8;0.001)					p.G310E	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1004	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	310			EGF-like 8; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.929G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216979	0.95104	.	.	ENSG00000148400	ENST00000277541	D	0.90069	-2.61	5.3	5.3	0.74995	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	0.95037	0.8393	M	0.87827	2.91	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	D	0.95465	0.8546	10	0.62326	D	0.03	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	310	P46531	NOTC1_HUMAN	E	310	ENSP00000277541:G310E	ENSP00000277541:G310E	G	-	2	0	NOTCH1	138533034	0.994000	0.37717	0.996000	0.52242	0.997000	0.91878	3.906000	0.56340	2.477000	0.83638	0.561000	0.74099	GGG		0.627	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	55	0	0	0	1	0	6	55					T	139413213	C	T	139413213	3	4	401	1	0	0	0	0	1	0	0	0	10547	623	22	2	6854	2	NOTCH1	9	139413213	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		139413213	1800218	22	35419											
NET1	10276	broad.mit.edu	37	chr10	5498930	5498930	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggacaaagccctttctggTggcaaacggaaagagacttt	12	8	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:5498930T>C	ENST00000355029.4	+	12	1906	c.1764T>C	c.(1762-1764)ggT>ggC	p.G588G	NET1_ENST00000542715.1_Silent_p.G407G|NET1_ENST00000380359.3_Silent_p.G534G	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	588					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						CCCTTTCTGGTGGCAAACGGA	0.483																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1762-1764)ggT>ggC		neuroepithelial cell transforming 1							59	64	62					10																	5498930		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498930T>C	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.1764T>C	10.37:g.5498930T>C						NET1_ENST00000542715.1_Silent_p.G407G|NET1_ENST00000380359.3_Silent_p.G534G	p.G588G	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			12	1906	+			588					Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.1764T>C	CCDS41483.1																																																																																				0.483	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		4	89	0	0	0	1	0	4	89					C	5498930	T	C	5498930	2	2	401	1	0	0	0	0	0	0	0	1	10338	1683	59	3		3	NET1	10	5498930	Silent	SNP	T	TCGA-R8-A6ML-01A-11D-A32B-08		5498930	130035817	23	35420											
NRG3	10718	broad.mit.edu	37	chr10	84733606	84733606	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatggagtcaagttttgtCggcccccagtcattccctga	10	11	2	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr10:84733606C>T	ENST00000404547.1	+	7	1347	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	NRG3_ENST00000404576.2_Silent_p.V253V|NRG3_ENST00000372142.2_Silent_p.V228V|NRG3_ENST00000556918.1_Silent_p.V279V|NRG3_ENST00000537893.1_Silent_p.V99V|NRG3_ENST00000372141.2_Silent_p.V449V|NRG3_ENST00000545131.1_Silent_p.V99V			P56975	NRG3_HUMAN	neuregulin 3	449					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAAGTTTTGTCGGCCCCCAGT	0.502																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(682-684)gtC>gtT		neuregulin 3							127	106	113					10																	84733606		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84733606C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1347C>T	10.37:g.84733606C>T						NRG3_ENST00000404547.1_Silent_p.V449V|NRG3_ENST00000404576.2_Silent_p.V253V|NRG3_ENST00000372141.2_Silent_p.V449V|NRG3_ENST00000556918.1_Silent_p.V279V|NRG3_ENST00000537893.1_Silent_p.V99V|NRG3_ENST00000545131.1_Silent_p.V99V	p.V228V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	8	958	+			449			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.684C>T	CCDS31233.1																																																																																				0.502	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		4	61	0	0	0	1	0	4	61					T	84733606	C	T	84733606	2	4	401	1	0	0	0	0	0	0	0	1	10649	871	31	1		1	NRG3	10	84733606	Silent	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	79234676	84733606	50801141	24	35421											
MUC5B	727897	broad.mit.edu	37	chr11	1268736	1268736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggaccacagccacAgccacacccagcaagacccg	7	20	0	1	rs71469870		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:1268736A>G	ENST00000529681.1	+	31	10684	c.10626A>G	c.(10624-10626)acA>acG	p.T3542T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3545T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3542	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)		CCACAGCCACAGCCACACCCA	0.687																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10633-10635)acA>acG		mucin 5B, oligomeric mucus/gel-forming							71	107	95					11																	1268736		2093	4209	6302	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268736A>G	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.10626A>G	11.37:g.1268736A>G						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3542T	p.T3545T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10693	+		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)	3542	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10635A>G	CCDS44515.2																																																																																				0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	165	0	0	0	1	0	5	165					G	1268736	A	G	1268736	2	3	401	1	0	0	0	0	0	0	0	1	9979	175	7	3		3	MUC5B	11	1268736	Silent	SNP	A	TCGA-R8-A6ML-01A-11D-A32B-08		1268736	133737780	25	35422											
MPZL2	10205	broad.mit.edu	37	chr11	118133774	118133774	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaacagcctccagcacccGggaggtataaatttccacag	8	12	0	0	rs374636024		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:118133774G>T	ENST00000278937.2	-	2	225	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	MPZL2_ENST00000438295.2_Silent_p.R33R|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCAGCACCCGGGAGGTATAA	0.463																																						ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(97-99)Cgg>Agg		myelin protein zero-like 2							139	148	145					11																	118133774		2200	4296	6496	SO:0001819	synonymous_variant	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133774G>T	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.97C>A	11.37:g.118133774G>T						MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R	p.R33R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	225	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	33			Ig-like V-type.		A8K2R1	Silent	SNP	ENST00000278937.2	37	c.97C>A	CCDS8393.1																																																																																				0.463	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		14	272	1	0	1.35283e-19	1	1.49375e-19	14	272					T	118133774	G	T	118133774	2	4	401	1	0	0	0	0	0	0	0	1	9750	1115	39	4		4	MPZL2	11	118133774	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	116865038	118133774	16872742	26	35423											
MEGF11	84465	broad.mit.edu	37	chr15	66206129	66206129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgtgtaggagacacGgggagccaggtctcggccct	18	10	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr15:66206129G>A	ENST00000409699.2	-	20	2828	c.2656C>T	c.(2656-2658)Cgt>Tgt	p.R886C	MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C|MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	886					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						TAGGAGACACGGGGAGCCAGG	0.602																																						ENST00000409699.2																			0				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						c.(2656-2658)Cgt>Tgt		multiple EGF-like-domains 11							59	54	55					15																	66206129		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66206129G>A	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.2656C>T	15.37:g.66206129G>A	ENSP00000386908:p.Arg886Cys					MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C	p.R886C			A6BM72	MEG11_HUMAN			20	2828	-			886					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2656C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000366	0.54147	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.86865	-2.18;-2.06;-2.18;-2.06;1.44	4.65	4.65	0.58169	.	0.195993	0.24638	U	0.036821	T	0.76800	0.4038	N	0.22421	0.69	0.80722	D	1	B;B	0.29037	0.089;0.231	B;B	0.14023	0.004;0.01	T	0.76342	-0.2994	10	0.56958	D	0.05	.	10.7709	0.46321	0.0:0.0:0.6713:0.3286	.	886;811	A6BM72;A6BM72-2	MEG11_HUMAN;.	C	886;811;886;811;59	ENSP00000386908:R886C;ENSP00000288745:R811C;ENSP00000414475:R886C;ENSP00000378987:R811C;ENSP00000378976:R59C	ENSP00000288745:R811C	R	-	1	0	MEGF11	63993183	1.000000	0.71417	0.831000	0.32960	0.982000	0.71751	6.369000	0.73109	2.407000	0.81776	0.555000	0.69702	CGT		0.602	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		8	21	0	0	0	1	0	8	21					A	66206129	G	A	66206129	3	1	401	1	0	0	0	0	1	0	0	0	9461	1116	39	1	494	1	MEGF11	15	66206129	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		66206129	36325263	27	35424											
CRYBA1	1411	broad.mit.edu	37	chr17	27580753	27580753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccctccttgcaagccatGggctggttcaacaacgaagt	9	13	1	0			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:27580753G>A	ENST00000225387.3	+	5	454	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	151	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGCAAGCCATGGGCTGGTTCA	0.453																																						ENST00000225387.3																			0				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(451-453)atG>atA		crystallin, beta A1							83	82	83					17																	27580753		2203	4300	6503	SO:0001583	missense	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27580753G>A		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"eye lens structural protein"	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.453G>A	17.37:g.27580753G>A	ENSP00000225387:p.Met151Ile						p.M151I	NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		5	454	+			151			Beta/gamma crystallin 'Greek key' 3.		Q13633|Q14CM9	Missense_Mutation	SNP	ENST00000225387.3	37	c.453G>A	CCDS11249.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086242	0.76642	.	.	ENSG00000108255	ENST00000225387	T	0.73897	-0.79	5.43	5.43	0.79202	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.79011	2.435	0.80722	D	1	P	0.49253	0.921	P	0.55303	0.773	T	0.80908	-0.1172	10	0.25751	T	0.34	.	18.8098	0.92053	0.0:0.0:1.0:0.0	.	151	P05813	CRBA1_HUMAN	I	151	ENSP00000225387:M151I	ENSP00000225387:M151I	M	+	3	0	CRYBA1	24604879	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	9.353000	0.97080	2.538000	0.85594	0.491000	0.48974	ATG		0.453	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		20	41	0	0	0	1	0	20	41					A	27580753	G	A	27580753	3	1	401	1	0	0	0	0	1	0	0	0	3907	1348	47	2	471	2	CRYBA1	17	27580753	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		27580753	53614457	28	35425											
KRT25	147183	broad.mit.edu	37	chr17	38906799	38906799	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggatctgcgccagctgCgcacagtagttgctctcggt	13	13	2	0			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:38906799C>T	ENST00000312150.4	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCGCCAGCTGCGCACAGTAGT	0.562																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1006-1008)gcG>gcA		keratin 25							135	137	136					17																	38906799		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906799C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1008G>A	17.37:g.38906799C>T							p.A336A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1068	-		Breast(137;0.00526)	336			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1008G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		115	181	0	0	0	1	0	115	181					T	38906799	C	T	38906799	2	4	401	1	0	0	0	0	0	0	0	1	8462	755	27	1		1	KRT25	17	38906799	Silent	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	11326046	38906799	42288411	29	35426											
CIC	23152	broad.mit.edu	37	chr19	42795743	42795744	+	Frame_Shift_Ins	INS	-	-	G													cccgtgcaggccccgcccccINSgggtggctcagcccagctgc					rs371384770|rs535815082		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:42795743_42795744insG	ENST00000575354.2	+	11	2772_2773	c.2732_2733insG	c.(2731-2736)ccgggtfs	p.PG911fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.PG911fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.PG1820fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	911	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P911P(1)		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)				GCCCCGCCCCCGGGTGGCTCAG	0.649			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - coding silent(1)	p.P911P(1)	upper_aerodigestive_tract(1)	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						c.(5458-5460)cggfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795743_42795744insG	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.2735dupG	19.37:g.42795746_42795746dupG	ENSP00000458663:p.Pro911fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.R911fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.R911fs	p.R1820fs			Q96RK0	CIC_HUMAN			12	5527_5528	+		Prostate(69;0.00682)	911					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5459_5460insG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			128	74						128	74	---	---	---	---	G	42795744	-	G	42795743	7	5	401	1	0	1	1	0	0	0	0	0	3424	652	23	0	2774	0	CIC	19	42795743	Frame_Shift_Ins	INS	-	TCGA-R8-A6ML-01A-11D-A32B-08		42795743	16333240	30	35427											
ZNF223	7766	broad.mit.edu	37	chr19	44570720	44570720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcagatgtagatcagcaCttacagttcattgcaaatta	7	8	3	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:44570720C>T	ENST00000434772.3	+	5	994	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	ZNF223_ENST00000591793.1_Missense_Mutation_p.L357F	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	247					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(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TAGATCAGCACTTACAGTTCA	0.418																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1069-1071)Ctt>Ttt		zinc finger protein 223							164	162	162					19																	44570720		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570720C>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.739C>T	19.37:g.44570720C>T	ENSP00000401947:p.Leu247Phe					ZNF223_ENST00000434772.3_Missense_Mutation_p.L247F	p.L357F			Q9UK11	ZN223_HUMAN			7	1152	+		Prostate(69;0.0352)	247					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.1069C>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724172	0.68959	.	.	ENSG00000178386	ENST00000434772	T	0.52057	0.68	2.46	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64034	0.2562	M	0.79805	2.47	0.33966	D	0.64626	D	0.71674	0.998	D	0.67725	0.953	T	0.70868	-0.4755	9	0.62326	D	0.03	.	8.1947	0.31389	0.0:0.8665:0.0:0.1335	.	247	Q9UK11	ZN223_HUMAN	F	247	ENSP00000401947:L247F	ENSP00000401947:L247F	L	+	1	0	ZNF223	49262560	0.058000	0.20735	0.003000	0.11579	0.979000	0.70002	0.507000	0.22675	0.354000	0.24105	0.313000	0.20887	CTT		0.418	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			5	146	0	0	0	1	0	5	146					T	44570720	C	T	44570720	3	4	401	1	0	0	0	0	1	0	0	0	17774	565	20	2	753	2	ZNF223	19	44570720	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	1774977	44570720	14558263	31	35428											
CEACAM20	125931	broad.mit.edu	37	chr19	45028281	45028281	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctgactgcaatggaGggtttggccagctctgaaag	15	9	1	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:45028281G>T	ENST00000454753.1	-	0	488							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)				CTGCAATGGAGGGTTTGGCCA	0.522																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							96	91	93					19																	45028281		2055	4207	6262			125931					integral to membrane		g.chr19:45028281G>T	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.45028281G>T										Q6UY09	CEA20_HUMAN			0	488	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.522	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	33	1	0	1	1	1	3	33					T	45028281	G	T	45028281	1	4	401	0	1	0	0	0	0	0	0	0	3191	987	35	4		4	CEACAM20	19	45028281	RNA	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	457561	45028281	14100702	32	35429											
TMPRSS15	5651	broad.mit.edu	37	chr21	19732164	19732164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagctcagtttaatggAaagtccttggtttacactaa	8	7	1	0	rs201269085	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr21:19732164A>G	ENST00000284885.3	-	8	823	c.790T>C	c.(790-792)Tcc>Ccc	p.S264P		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1. {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						AGTTTAATGGAAAGTCCTTGG	0.264													A|||	4	0.000798722	0.003	0.0	5008	,	,		15556	0.0		0.0	False		,,,				2504	0.0					ENST00000284885.3																			0				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						c.(790-792)Tcc>Ccc		transmembrane protease, serine 15		A	PRO/SER	3,4361		0,3,2179	29	34	33		790	3.8	1	21		33	0,8514		0,0,4257	yes	missense	TMPRSS15	NM_002772.2	74	0,3,6436	GG,GA,AA		0.0,0.0687,0.0233	probably-damaging	264/1020	19732164	3,12875	2182	4257	6439	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19732164A>G		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.790T>C	21.37:g.19732164A>G	ENSP00000284885:p.Ser264Pro						p.S264P	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			8	823	-			264			CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.790T>C	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.952600	0.34471	6.87E-4	0.0	ENSG00000154646	ENST00000284885	T	0.19532	2.14	4.95	3.79	0.43588	CUB (5);	0.070531	0.56097	D	0.000021	T	0.34337	0.0894	M	0.64260	1.97	0.37557	D	0.9189	P	0.51653	0.947	P	0.58210	0.835	T	0.20207	-1.0282	9	.	.	.	.	8.7787	0.34778	0.8093:0.1907:0.0:0.0	.	264	P98073	ENTK_HUMAN	P	264	ENSP00000284885:S264P	.	S	-	1	0	TMPRSS15	18654035	0.998000	0.40836	0.993000	0.49108	0.149000	0.21700	1.860000	0.39428	0.901000	0.36495	-0.973000	0.02599	TCC		0.264	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		20	32	0	0	0	1	0	20	32					G	19732164	A	G	19732164	3	3	401	1	0	0	0	0	1	0	0	0	16243	246	9	3	2341	3	TMPRSS15	21	19732164	Missense_Mutation	SNP	A	TCGA-R8-A6ML-01A-11D-A32B-08		19732164	28397731	33	35430											
APOL3	80833	broad.mit.edu	37	chr22	36537327	36537327	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctccagctcctgagcctgcCgcctcagctcctcagcagat	8	19	2	2	rs145559179	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr22:36537327C>G	ENST00000349314.2	-	3	1167	c.1130G>C	c.(1129-1131)cGg>cCg	p.R377P	APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000424878.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000397293.2_Missense_Mutation_p.R306P	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	377					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTGAGCCTGCCGCCTCAGCTC	0.542																																						ENST00000424878.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(529-531)cGg>cCg		apolipoprotein L, 3							94	90	91					22																	36537327		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537327C>G	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.1130G>C	22.37:g.36537327C>G	ENSP00000344577:p.Arg377Pro					APOL3_ENST00000397293.2_Missense_Mutation_p.R306P|APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000349314.2_Missense_Mutation_p.R377P	p.R177P			O95236	APOL3_HUMAN			4	2678	-			377					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.530G>C	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236921	0.39498	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93	4.14	1.97	0.26223	.	0.807698	0.11062	N	0.603918	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	D;D	0.56035	0.974;0.967	P;P	0.49502	0.613;0.478	T	0.45702	-0.9243	10	0.52906	T	0.07	.	5.8088	0.18454	0.0:0.2226:0.0:0.7774	.	377;306	O95236;O95236-2	APOL3_HUMAN;.	P	306;177;377;177;177	ENSP00000380461:R306P;ENSP00000415779:R177P;ENSP00000344577:R377P;ENSP00000355164:R177P;ENSP00000380456:R177P	ENSP00000344577:R377P	R	-	2	0	APOL3	34867273	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.434000	0.21494	0.258000	0.21686	-0.492000	0.04666	CGG		0.542	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		51	75	0	0	0	1	0	51	75					G	36537327	C	G	36537327	3	3	401	1	0	0	0	0	1	0	0	0	807	652	23	4	82	4	APOL3	22	36537327	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		36537327	14767239	34	35431											
SMC1A	8243	broad.mit.edu	37	chrX	53432432	53432432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggaatccacaccttgtggCgctggtggcctccaaaggca	13	12	0	0			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:53432432C>A	ENST00000322213.4	-	11	2031	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	635	Flexible hinge.				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						CACCTTGTGGCGCTGGTGGCC	0.562																																						ENST00000322213.4																			0				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						c.(1903-1905)cGc>cTc		structural maintenance of chromosomes 1A							42	40	40					X																	53432432		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432432C>A	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.1904G>T	X.37:g.53432432C>A	ENSP00000323421:p.Arg635Leu					SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	p.R635L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			11	2031	-			635			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1904G>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910392	0.92107	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.87179	-2.22;-2.22	5.55	5.55	0.83447	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.984;0.967;0.997	D	0.95834	0.8860	10	0.87932	D	0	.	17.4486	0.87586	0.0:1.0:0.0:0.0	.	401;613;635	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	635;401	ENSP00000323421:R635L;ENSP00000364489:R401L	ENSP00000323421:R635L	R	-	2	0	SMC1A	53449157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.023000	0.76437	2.476000	0.83614	0.600000	0.82982	CGC		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		20	8	1	0	8.10497e-08	1	8.59127e-08	20	8					A	53432432	C	A	53432432	3	1	401	1	0	0	0	0	1	0	0	0	14781	768	27	4	1857	4	SMC1A	23	53432432	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		53432432	101838128	35	35432											
ITIH5L	347365	broad.mit.edu	37	chrX	54783902	54783902	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcttggaaagtgataTgcttgtggaaatttggtgtg	14	4	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:54783902T>C	ENST00000218436.6	-	8	2634	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	869	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GAAAGTGATATGCTTGTGGAA	0.517																																						ENST00000218436.6																			0											c.(2605-2607)Ata>Gta		inter-alpha-trypsin inhibitor heavy chain family, member 6							73	66	68					X																	54783902		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783902T>C	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.2605A>G	X.37:g.54783902T>C	ENSP00000218436:p.Ile869Val						p.I869V	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2634	-			869			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2605A>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.599563	0.00849	.	.	ENSG00000102313	ENST00000218436	T	0.02085	4.46	3.67	-4.19	0.03835	.	5.475700	0.01194	U	0.007412	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46317	-0.9200	10	0.17369	T	0.5	.	3.9951	0.09554	0.1968:0.0:0.3521:0.4511	.	869	Q6UXX5	ITH5L_HUMAN	V	869	ENSP00000218436:I869V	ENSP00000218436:I869V	I	-	1	0	ITIH5L	54800627	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.070000	0.14573	-0.470000	0.06901	-1.690000	0.00728	ATA		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	33	0	0	0	1	0	9	33					C	54783902	T	C	54783902	3	2	401	1	0	0	0	0	1	0	0	0	7908	1464	51	3	1360	3	ITIH5L	23	54783902	Missense_Mutation	SNP	T	TCGA-R8-A6ML-01A-11D-A32B-08	1351470	54783902	100486658	36	35433											
CSF3R	1441	broad.mit.edu	37	chr1	36932096	36932096	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggggctggcctggaaCcagaggttctcataggactt	13	11	1	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:36932096C>T	ENST00000373106.1	-	17	2920	c.2373G>A	c.(2371-2373)tgG>tgA	p.W791*	CSF3R_ENST00000373103.1_Nonsense_Mutation_p.W818*|CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D|MRPS15_ENST00000373116.5_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	791					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGCCTGGAACCAGAGGTTCT	0.657																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2452-2454)tgG>tgA		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						14	17	16					1																	36932096		2203	4300	6503	SO:0001587	stop_gained	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932096C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2373G>A	1.37:g.36932096C>T	ENSP00000362198:p.Trp791*					CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000373106.1_Nonsense_Mutation_p.W791*|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D	p.W818*	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			17	3001	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	791						Nonsense_Mutation	SNP	ENST00000373106.1	37	c.2454G>A	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637864|3.637864	0.67130|0.67130	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465;ENST00000338937|ENST00000373106;ENST00000373103;ENST00000361632;ENST00000418048;ENST00000440588	T|.	0.38722|.	1.12|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.704143	.|0.14561	.|N	.|0.312058	T|.	0.65883|.	0.2734|.	.|.	.|.	.|.	0.31123|0.31123	N|N	0.708593|0.708593	D|.	0.89917|.	1.0|.	D|.	0.72625|.	0.978|.	T|.	0.68595|.	-0.5367|.	8|.	0.87932|0.87932	D|D	0|0	-9.1098|-9.1098	16.6824|16.6824	0.85296|0.85296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	760|.	E1B6W6|.	.|.	D|X	343;760|791;818;791;791;818	ENSP00000345013:G760D|.	ENSP00000345013:G760D|ENSP00000355406:W791X	G|W	-|-	2|3	0|0	CSF3R|CSF3R	36704683|36704683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.486000|0.486000	0.33341|0.33341	3.076000|3.076000	0.50081|0.50081	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.657	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		4	23	0	0	0	1	0	4	23					T	36932096	C	T	36932096	4	4	402	1	0	0	0	0	0	1	0	0	3937	508	18	2	250	2	CSF3R	1	36932096	Nonsense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		36932096	212318525	1	35434											
SETDB1	9869	broad.mit.edu	37	chr1	150916431	150916431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggctatgcttcctAtgtcacacagtcggaactgt	10	9	1	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:150916431A>G	ENST00000271640.5	+	8	1101	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C|SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Missense_Mutation_p.M237V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	304	Tudor 1.				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.Y304C(1)		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)			TATGCTTCCTATGTCACACAG	0.408																																						ENST00000271640.5																			1	Substitution - Missense(1)	p.Y304C(1)	ovary(1)	NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(910-912)tAt>tGt		SET domain, bifurcated 1							204	181	189					1																	150916431		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150916431A>G	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.911A>G	1.37:g.150916431A>G	ENSP00000271640:p.Tyr304Cys					SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000368963.1_Missense_Mutation_p.237_237insV|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C	p.Y304C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1101	+	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)		304			Tudor 1.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.911A>G	CCDS44217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504929|4.504929	0.85282|0.85282	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000368963|ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193;ENST00000413562	.|T;T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94;0.94	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Tudor domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57272|0.57272	0.2042|0.2042	M|M	0.78456|0.78456	2.415|2.415	0.32013|0.32013	N|N	0.601802|0.601802	.|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;1.0;1.0;0.999;0.999	T|T	0.63804|0.63804	-0.6554|-0.6554	6|10	0.87932|0.87932	D|D	0|0	.|.	15.187|15.187	0.73009|0.73009	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|304;304;304;304;304	.|E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.|.;.;.;.;SETB1_HUMAN	V|C	237|304;304;304;304;304;147	.|ENSP00000271640:Y304C;ENSP00000357958:Y304C;ENSP00000436148:Y304C;ENSP00000357965:Y304C;ENSP00000432348:Y304C	ENSP00000357959:M237V|ENSP00000271640:Y304C	M|Y	+|+	1|2	0|0	SETDB1|SETDB1	149183055|149183055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.222000|8.222000	0.89777|0.89777	2.177000|2.177000	0.69029|0.69029	0.377000|0.377000	0.23210|0.23210	ATG|TAT		0.408	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			68	128	0	0	0	1	0	68	128					G	150916431	A	G	150916431	3	3	402	1	0	0	0	0	1	0	0	0	14138	449	16	3	937	3	SETDB1	1	150916431	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	113984335	150916431	98334190	2	35435											
SH2D2A	9047	broad.mit.edu	37	chr1	156784873	156784873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcaggggctgccccgtgCtgcaggagccagtgggcctg	18	13	0	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:156784873C>T	ENST00000368199.3	-	3	417	c.264G>A	c.(262-264)caG>caA	p.Q88Q	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000392306.2_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q|NTRK1_ENST00000392302.2_5'Flank	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	88					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCCCGTGCTGCAGGAGCC	0.642																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(262-264)caG>caA		SH2 domain containing 2A							34	34	34					1																	156784873		2203	4300	6503	SO:0001819	synonymous_variant	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156784873C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"SH2 domain containing"	10821	protein-coding gene	gene with protein product	"T lymphocyte specific adaptor protein", "T cell specific adapter protein TSAd", "T cell specific adpater protein TSAd"	604514	"SH2 domain protein 2A"			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.264G>A	1.37:g.156784873C>T						SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368199.3_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q	p.Q88Q	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			3	403	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		88					O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	c.264G>A	CCDS1159.1																																																																																				0.642	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		3	39	0	0	0	1	0	3	39					T	156784873	C	T	156784873	2	4	402	1	0	0	0	0	0	0	0	1	14232	796	28	2		2	SH2D2A	1	156784873	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5868442	156784873	92465748	3	35436											
PRELP	5549	broad.mit.edu	37	chr1	203452722	203452722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattaacctggacaacaaccGaatccgcaagatagaccaga	8	11	0	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:203452722G>A	ENST00000343110.2	+	2	537	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	137					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAACAACCGAATCCGCAAG	0.552																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(409-411)cGa>cAa		proline/arginine-rich end leucine-rich repeat protein							88	88	88					1																	203452722		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452722G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.410G>A	1.37:g.203452722G>A	ENSP00000343924:p.Arg137Gln						p.R137Q	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	537	+			137					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.410G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830279	0.16749	.	.	ENSG00000188783	ENST00000343110	T	0.57907	0.37	4.71	2.84	0.33178	.	0.321794	0.29403	N	0.012255	T	0.25419	0.0618	N	0.04132	-0.27	0.41453	D	0.987999	B	0.29212	0.237	B	0.22880	0.042	T	0.04664	-1.0935	10	0.23891	T	0.37	-23.7212	9.4716	0.38847	0.175:0.0:0.825:0.0	.	137	P51888	PRELP_HUMAN	Q	137	ENSP00000343924:R137Q	ENSP00000343924:R137Q	R	+	2	0	PRELP	201719345	1.000000	0.71417	0.444000	0.26895	0.970000	0.65996	4.227000	0.58612	0.422000	0.26005	0.462000	0.41574	CGA		0.552	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		4	174	0	0	0	1	0	4	174					A	203452722	G	A	203452722	3	1	402	1	0	0	0	0	1	0	0	0	12473	1058	37	1	412	1	PRELP	1	203452722	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	46667849	203452722	45797899	4	35437											
RYR2	6262	broad.mit.edu	37	chr1	237791209	237791209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtttgtgttgctccatcGgcagtatgacggcattgggg	14	8	0	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:237791209G>A	ENST00000366574.2	+	41	6586	c.6269G>A	c.(6268-6270)cGg>cAg	p.R2090Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	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)	p.R2088Q(1)		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)			TTGCTCCATCGGCAGTATGAC	0.557																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R2088Q(1)	kidney(1)	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						c.(6268-6270)cGg>cAg		ryanodine receptor 2 (cardiac)							73	72	72					1																	237791209		1981	4151	6132	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791209G>A	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.6269G>A	1.37:g.237791209G>A	ENSP00000355533:p.Arg2090Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q	p.R2090Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6586	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2090			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6269G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822115	0.90873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98474	-4.95;-4.93;-4.95	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000016	D	0.99105	0.9692	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99433	1.0936	10	0.62326	D	0.03	.	19.0363	0.92980	0.0:0.0:1.0:0.0	.	2090	Q92736	RYR2_HUMAN	Q	2090;2088;2074	ENSP00000355533:R2090Q;ENSP00000353174:R2088Q;ENSP00000443798:R2074Q	ENSP00000353174:R2088Q	R	+	2	0	RYR2	235857832	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.811000	0.86092	2.571000	0.86741	0.591000	0.81541	CGG		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	64	0	0	0	1	0	9	64					A	237791209	G	A	237791209	3	1	402	1	0	0	0	0	1	0	0	0	13769	1116	39	1	6431	1	RYR2	1	237791209	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	34338487	237791209	11459412	5	35438											
NLRC4	58484	broad.mit.edu	37	chr2	32476399	32476399	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatggcaattcgctgcagCagagtggacttgcctttgcc	12	11	0	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:32476399C>A	ENST00000404025.2	-	5	1022	c.534G>T	c.(532-534)ctG>ctT	p.L178L	NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L178L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	178	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCGCTGCAGCAGAGTGGACT	0.582																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(532-534)ctG>ctT		NLR family, CARD domain containing 4							71	69	70					2																	32476399		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476399C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.534G>T	2.37:g.32476399C>A						NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L178L	p.L178L			Q9NPP4	NLRC4_HUMAN			5	1022	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		178			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.534G>T	CCDS33174.1																																																																																				0.582	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		5	126	1	0	5.18039e-06	1	5.55042e-06	5	126					A	32476399	C	A	32476399	2	1	402	1	0	0	0	0	0	0	0	1	10469	697	25	4		4	NLRC4	2	32476399	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		32476399	210722974	6	35439											
GLI2	2736	broad.mit.edu	37	chr2	121712960	121712960	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatgcagagcgggggCgctgccagcgcaccccatct	14	15	1	2	rs149502176		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:121712960C>A	ENST00000452319.1	+	5	657	c.597C>A	c.(595-597)ggC>ggA	p.G199G	GLI2_ENST00000361492.4_Silent_p.G199G|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGAGCGGGGGCGCTGCCAGCG	0.667																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(595-597)ggC>ggA		GLI family zinc finger 2		C		0,4406		0,0,2203	30	28	29		597	-4.7	0.1	2	dbSNP_134	29	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GLI2	NM_005270.4		0,1,6501	AA,AC,CC		0.0116,0.0,0.0077		199/1587	121712960	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121712960C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.597C>A	2.37:g.121712960C>A						GLI2_ENST00000361492.4_Silent_p.G199G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR	p.G199G			P10070	GLI2_HUMAN			5	657	+	Renal(3;0.0496)	Prostate(154;0.0623)	199						Silent	SNP	ENST00000452319.1	37	c.597C>A	CCDS33283.1																																																																																				0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		17	33	1	0	3.41278e-10	1	3.7641e-10	17	33					A	121712960	C	A	121712960	2	1	402	1	0	0	0	0	0	0	0	1	6438	755	27	4		4	GLI2	2	121712960	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	89236561	121712960	121486413	7	35440											
ITGB6	3694	broad.mit.edu	37	chr2	161052897	161052897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtttgctggggtatcaCacctttcgccaactccagat	9	11	1	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:161052897C>T	ENST00000283249.2	-	3	413	c.176G>A	c.(175-177)tGt>tAt	p.C59Y	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	59					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGGGGTATCACACCTTTCGCC	0.328																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(175-177)tGt>tAt		integrin, beta 6							126	138	134					2																	161052897		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052897C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.176G>A	2.37:g.161052897C>T	ENSP00000283249:p.Cys59Tyr					ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y|ITGB6_ENST00000485635.1_5'UTR	p.C59Y			P18564	ITB6_HUMAN			3	413	-			59					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.176G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287946	0.80803	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.98400	-4.91;-4.68;-4.91;-4.91	5.67	5.67	0.87782	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98771	1.0728	10	0.87932	D	0	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	17;59	E9PEE8;P18564	.;ITB6_HUMAN	Y	59;17;59;59	ENSP00000283249:C59Y;ENSP00000408024:C17Y;ENSP00000386828:C59Y;ENSP00000386367:C59Y	ENSP00000283249:C59Y	C	-	2	0	ITGB6	160761143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.924000	0.75823	2.670000	0.90874	0.655000	0.94253	TGT		0.328	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		106	223	0	0	0	1	0	106	223					T	161052897	C	T	161052897	3	4	402	1	0	0	0	0	1	0	0	0	7899	478	17	2	2242	2	ITGB6	2	161052897	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	39339937	161052897	82146476	8	35441											
LRP2	4036	broad.mit.edu	37	chr2	170093674	170093674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttactaatcagcacagTcctgtggctcccatcaattt	6	11	2	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:170093674T>C	ENST00000263816.3	-	28	4915	c.4630A>G	c.(4630-4632)Act>Gct	p.T1544A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1544					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)"	ATCAGCACAGTCCTGTGGCTC	0.378																																						ENST00000263816.3																			0				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						c.(4630-4632)Act>Gct		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						147	143	144					2																	170093674		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093674T>C		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.4630A>G	2.37:g.170093674T>C	ENSP00000263816:p.Thr1544Ala						p.T1544A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4915	-			1544					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4630A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345932	0.61073	.	.	ENSG00000081479	ENST00000263816	D	0.93307	-3.2	5.32	4.17	0.49024	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.203054	0.50627	N	0.000101	D	0.88695	0.6506	N	0.20845	0.615	0.80722	D	1	D	0.58268	0.982	P	0.51742	0.678	D	0.84664	0.0708	10	0.07175	T	0.84	.	11.0565	0.47922	0.0:0.0728:0.0:0.9272	.	1544	P98164	LRP2_HUMAN	A	1544	ENSP00000263816:T1544A	ENSP00000263816:T1544A	T	-	1	0	LRP2	169801920	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	4.187000	0.58344	0.970000	0.38263	0.528000	0.53228	ACT		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		95	156	0	0	0	1	0	95	156					C	170093674	T	C	170093674	3	2	402	1	0	0	0	0	1	0	0	0	8956	1667	58	3	9545	3	LRP2	2	170093674	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	9040777	170093674	73105699	9	35442											
NBEAL1	65065	broad.mit.edu	37	chr2	204066361	204066361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaagttgctcttcagtgCtggatactgggataatagca	11	7	2	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:204066361C>T	ENST00000449802.1	+	49	7580	c.7247C>T	c.(7246-7248)gCt>gTt	p.A2416V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2416										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						CTCTTCAGTGCTGGATACTGG	0.398																																						ENST00000449802.1																			0				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						c.(7246-7248)gCt>gTt		neurobeachin-like 1							131	116	121					2																	204066361		1883	4122	6005	SO:0001583	missense	65065						binding	g.chr2:204066361C>T	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.7247C>T	2.37:g.204066361C>T	ENSP00000399903:p.Ala2416Val						p.A2416V	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			49	7580	+			2416					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7247C>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581567	0.65992	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.33654	4.85;1.4	5.87	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.093069	0.64402	D	0.000001	T	0.36771	0.0979	L	0.47716	1.5	0.41486	D	0.988198	P;P	0.48640	0.913;0.828	P;B	0.46758	0.526;0.44	T	0.11108	-1.0601	10	0.12103	T	0.63	.	15.1037	0.72303	0.0:0.578:0.4219:0.0	.	2416;2405	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	2416;2347;431	ENSP00000399903:A2416V;ENSP00000388466:A431V	ENSP00000344985:A2347V	A	+	2	0	NBEAL1	203774606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.393000	0.66279	1.438000	0.47492	0.655000	0.94253	GCT		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			4	213	0	0	0	1	0	4	213					T	204066361	C	T	204066361	3	4	402	1	0	0	0	0	1	0	0	0	10188	797	28	2	7437	2	NBEAL1	2	204066361	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	33972687	204066361	39133012	10	35443											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			55	130	0	0	0	1	0	55	130					T	209113112	C	T	209113112	3	4	402	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5046751	209113112	34086261	11	35444											
TRAIP	10293	broad.mit.edu	37	chr3	49881320	49881320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcttccagcgtatcccGcagagtgtcgatgatgacct	11	12	1	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:49881320G>A	ENST00000331456.2	-	5	435	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	108					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCGTATCCCGCAGAGTGTCG	0.562																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(322-324)Cgg>Tgg		TRAF interacting protein							224	170	188					3																	49881320		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49881320G>A	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.322C>T	3.37:g.49881320G>A	ENSP00000328203:p.Arg108Trp					TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Intron	p.R108W	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	435	-			108					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.322C>T	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846504	0.51164	.	.	ENSG00000183763	ENST00000331456;ENST00000482582;ENST00000482243	T	0.44482	0.92	5.13	3.2	0.36748	.	0.105312	0.64402	D	0.000006	T	0.59142	0.2172	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.947;0.999;0.968	T	0.62369	-0.6869	10	0.72032	D	0.01	-15.6702	12.0329	0.53408	0.0:0.0:0.5608:0.4392	.	108;108;108	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	W	108;92;110	ENSP00000328203:R108W	ENSP00000328203:R108W	R	-	1	2	TRAIP	49856324	1.000000	0.71417	0.998000	0.56505	0.202000	0.24057	0.957000	0.29215	1.092000	0.41356	0.561000	0.74099	CGG		0.562	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		5	215	0	0	0	1	0	5	215					A	49881320	G	A	49881320	3	1	402	1	0	0	0	0	1	0	0	0	16445	1086	38	1	1131	1	TRAIP	3	49881320	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		49881320	148141110	12	35445											
EPHA3	2042	broad.mit.edu	37	chr3	89457251	89457251	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtcaaaacatggggcagatGaaaaaagacttcattttggc	10	6	2	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:89457251G>A	ENST00000336596.2	+	9	1957	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	578					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGGGCAGATGAAAAAAGACT	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1732-1734)Gaa>Aaa		EPH receptor A3							230	225	227					3																	89457251		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89457251G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1732G>A	3.37:g.89457251G>A	ENSP00000337451:p.Glu578Lys	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K	p.E578K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	1957	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	578					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1732G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306977	0.81247	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.10573	2.86;2.86	5.97	5.97	0.96955	.	0.143873	0.64402	D	0.000008	T	0.14527	0.0351	L	0.50919	1.6	0.80722	D	1	B	0.17038	0.02	B	0.19148	0.024	T	0.08743	-1.0707	9	.	.	.	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	578	P29320	EPHA3_HUMAN	K	578	ENSP00000337451:E578K;ENSP00000419190:E578K	.	E	+	1	0	EPHA3	89539941	1.000000	0.71417	0.625000	0.29200	0.945000	0.59286	9.230000	0.95299	2.833000	0.97629	0.585000	0.79938	GAA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		98	164	0	0	0	1	0	98	164					A	89457251	G	A	89457251	3	1	402	1	0	0	0	0	1	0	0	0	5168	1291	45	2	1792	2	EPHA3	3	89457251	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	39575931	89457251	108565179	13	35446											
ABI3BP	25890	broad.mit.edu	37	chr3	100527058	100527058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttttggcttaggaggaGcacgtggtgtctgcttggga	16	5	1	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:100527058G>A	ENST00000284322.5	-	19	1728	c.1619C>T	c.(1618-1620)gCt>gTt	p.A540V	ABI3BP_ENST00000471714.1_Missense_Mutation_p.A1217V|ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	540	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTAGGAGGAGCACGTGGTGT	0.428																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3649-3651)gCt>gTt		ABI family, member 3 (NESH) binding protein							111	108	109					3																	100527058		1921	4138	6059	SO:0001583	missense	25890					extracellular space		g.chr3:100527058G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1619C>T	3.37:g.100527058G>A	ENSP00000284322:p.Ala540Val					ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V|ABI3BP_ENST00000284322.5_Missense_Mutation_p.A540V	p.A1217V			Q7Z7G0	TARSH_HUMAN			50	3759	-			540					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.3650C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.601|3.601	-0.081493|-0.081493	0.07141|0.07141	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000482765;ENST00000533795|ENST00000495591;ENST00000471901;ENST00000527943;ENST00000478235	T;T;T;T|.	0.55930|.	1.84;0.49;1.84;1.84|.	5.43|5.43	2.59|2.59	0.31030|0.31030	.|.	1.034900|.	0.07600|.	N|.	0.923476|.	T|T	0.33089|0.33089	0.0851|0.0851	L|L	0.33485|0.33485	1.01|1.01	0.18873|0.18873	N|N	0.999984|0.999984	B;B;P;B|.	0.40398|.	0.02;0.204;0.716;0.126|.	B;B;B;B|.	0.36186|.	0.008;0.055;0.219;0.035|.	T|T	0.20075|0.20075	-1.0286|-1.0286	10|5	0.12766|.	T|.	0.61|.	0.1892|0.1892	7.5275|7.5275	0.27664|0.27664	0.26:0.0:0.74:0.0|0.26:0.0:0.74:0.0	.|.	494;540;1217;224|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	V|F	1217;540;224;494;89;181|596;120;46;118	ENSP00000420524:A1217V;ENSP00000284322:A540V;ENSP00000373189:A494V;ENSP00000418800:A89V|.	ENSP00000284322:A540V|.	A|L	-|-	2|1	0|0	ABI3BP|ABI3BP	102009748|102009748	0.755000|0.755000	0.28372|0.28372	0.537000|0.537000	0.28052|0.28052	0.855000|0.855000	0.48748|0.48748	0.898000|0.898000	0.28404|0.28404	0.747000|0.747000	0.32809|0.32809	0.585000|0.585000	0.79938|0.79938	GCT|CTC		0.428	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			17	32	0	0	0	1	0	17	32					A	100527058	G	A	100527058	3	1	402	1	0	0	0	0	1	0	0	0	91	971	34	2	1676	2	ABI3BP	3	100527058	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	11069807	100527058	97495372	14	35447											
IGSF10	285313	broad.mit.edu	37	chr3	151164884	151164884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgattgtgcctgggttcaCtcacttctcttacagatgtc	9	10	3	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:151164884C>T	ENST00000282466.3	-	4	2884	c.2885G>A	c.(2884-2886)aGt>aAt	p.S962N		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	962					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)			CCTGGGTTCACTCACTTCTCT	0.408																																						ENST00000282466.3																			0				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						c.(2884-2886)aGt>aAt		immunoglobulin superfamily, member 10							174	168	170					3																	151164884		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164884C>T	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.2885G>A	3.37:g.151164884C>T	ENSP00000282466:p.Ser962Asn						p.S962N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2884	-			962					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2885G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940189	0.18281	.	.	ENSG00000152580	ENST00000282466	T	0.70399	-0.48	5.13	0.643	0.17770	.	0.688080	0.12981	N	0.423303	T	0.46249	0.1383	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.31336	-0.9947	10	0.37606	T	0.19	.	7.2621	0.26209	0.0:0.5776:0.1222:0.3002	.	962	Q6WRI0	IGS10_HUMAN	N	962	ENSP00000282466:S962N	ENSP00000282466:S962N	S	-	2	0	IGSF10	152647574	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.414000	0.21164	0.179000	0.19938	-0.229000	0.12294	AGT		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		82	173	0	0	0	1	0	82	173					T	151164884	C	T	151164884	3	4	402	1	0	0	0	0	1	0	0	0	7597	565	20	2	5046	2	IGSF10	3	151164884	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	50637826	151164884	46857546	15	35448											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	8	7	0	4	rs121913287		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, 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.R88Q(53)		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)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	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						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107	102	104					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		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.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			55	117	0	0	0	1	0	55	117					A	178916876	G	A	178916876	3	1	402	1	0	0	0	0	1	0	0	0	11913	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	27751992	178916876	19105554	16	35449											
PIK3CA	5290	broad.mit.edu	37	chr3	178922340	178922340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagaacccttatgtgacaAtgtgaacactcaaagagtac	9	8	1	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178922340A>G	ENST00000263967.3	+	6	1266	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	370	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)	TTATGTGACAATGTGAACACT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				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						c.(1108-1110)aAt>aGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							232	185	199					3																	178922340		1843	4092	5935	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922340A>G		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.1109A>G	3.37:g.178922340A>G	ENSP00000263967:p.Asn370Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N370S	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1266	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		370			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1109A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608715	0.46527	.	.	ENSG00000121879	ENST00000263967	T	0.75938	-0.98	5.62	5.62	0.85841	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.044808	0.85682	D	0.000000	T	0.60818	0.2298	N	0.17082	0.46	0.80722	D	1	B	0.15719	0.014	B	0.21151	0.033	T	0.56013	-0.8049	10	0.22109	T	0.4	-15.14	15.8084	0.78534	1.0:0.0:0.0:0.0	.	370	P42336	PK3CA_HUMAN	S	370	ENSP00000263967:N370S	ENSP00000263967:N370S	N	+	2	0	PIK3CA	180405034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.829000	0.92055	2.138000	0.66242	0.533000	0.62120	AAT		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	292	0	0	0	1	0	5	292					G	178922340	A	G	178922340	3	3	402	1	0	0	0	0	1	0	0	0	11913	101	4	3	1127	3	PIK3CA	3	178922340	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	5464	178922340	19100090	17	35450											
SORCS2	57537	broad.mit.edu	37	chr4	7668883	7668883	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccagacaaaatactacgtCtcttatcgtcgaaatgaatt	5	9	1	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:7668883C>A	ENST00000507866.2	+	8	1213	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V	SORCS2_ENST00000329016.9_Silent_p.V196V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	368					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AATACTACGTCTCTTATCGTC	0.483																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1102-1104)gtC>gtA		sortilin-related VPS10 domain containing receptor 2							201	194	196					4																	7668883		1979	4165	6144	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7668883C>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1104C>A	4.37:g.7668883C>A						SORCS2_ENST00000329016.9_Silent_p.V196V	p.V368V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			8	1213	+			368					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.1104C>A	CCDS47008.1																																																																																				0.483	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		46	309	1	0	1.89013e-27	1	2.14787e-27	46	309					A	7668883	C	A	7668883	2	1	402	1	0	0	0	0	0	0	0	1	14931	900	32	4		4	SORCS2	4	7668883	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		7668883	183485393	18	35451											
CPEB2	132864	broad.mit.edu	37	chr4	15055831	15055831	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaagcaagtcctatttTccaccaaaaggtaaggattg	9	8	0	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:15055831T>C	ENST00000507071.1	+	7	1203	c.1116T>C	c.(1114-1116)ttT>ttC	p.F372F	CPEB2_ENST00000345451.3_Silent_p.F342F|CPEB2_ENST00000259997.5_Silent_p.F380F|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_Silent_p.F350F|CPEB2_ENST00000382401.3_Silent_p.F345F|CPEB2_ENST00000538197.1_Silent_p.F817F|CPEB2_ENST00000541112.1_Silent_p.F809F|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Silent_p.F790F			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	372	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AGTCCTATTTTCCACCAAAAG	0.343																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2449-2451)ttT>ttC		cytoplasmic polyadenylation element binding protein 2							119	125	123					4																	15055831		2203	4300	6503	SO:0001819	synonymous_variant	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15055831T>C	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1116T>C	4.37:g.15055831T>C						CPEB2_ENST00000259997.5_Silent_p.F380F|CPEB2_ENST00000541112.1_Silent_p.F809F|CPEB2_ENST00000442003.2_Silent_p.F790F|CPEB2_ENST00000382395.3_Silent_p.F350F|CPEB2_ENST00000507071.1_Silent_p.F372F|CPEB2_ENST00000382401.3_Silent_p.F345F|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Silent_p.F342F	p.F817F	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			8	2451	+			372					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Silent	SNP	ENST00000507071.1	37	c.2451T>C																																																																																					0.343	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		112	203	0	0	0	1	0	112	203					C	15055831	T	C	15055831	2	2	402	1	0	0	0	0	0	0	0	1	3801	1780	62	3		3	CPEB2	4	15055831	Silent	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	7386948	15055831	176098445	19	35452											
PPBP	5473	broad.mit.edu	37	chr4	74853701	74853701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccaagtttctcttagtTtgtcctttggtggaggaagc	11	8	1	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:74853701T>G	ENST00000296028.3	-	1	213	c.120A>C	c.(118-120)caA>caC	p.Q40H		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	40					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTCTTAGTTTGTCCTTTGG	0.527																																						ENST00000296028.3																			0				breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10						c.(118-120)caA>caC		pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)							136	126	130					4																	74853701		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853701T>G	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"Endogenous ligands"	9240	protein-coding gene	gene with protein product	"platelet basic protein", "beta-thromboglobulin", "connective tissue-activating peptide III", "neutrophil-activating peptide-2"	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.120A>C	4.37:g.74853701T>G	ENSP00000296028:p.Gln40His						p.Q40H	NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	213	-	Breast(15;0.00136)		40					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.120A>C	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956543	0.34565	.	.	ENSG00000163736	ENST00000296028	T	0.46063	0.88	2.56	2.56	0.30785	Chemokine interleukin-8-like domain (1);	.	.	.	.	T	0.29556	0.0737	L	0.29908	0.895	0.09310	N	1	D	0.56968	0.978	B	0.42851	0.4	T	0.08554	-1.0716	9	0.45353	T	0.12	.	6.9621	0.24603	0.0:0.0:0.0:1.0	.	40	P02775	CXCL7_HUMAN	H	40	ENSP00000296028:Q40H	ENSP00000296028:Q40H	Q	-	3	2	PPBP	75072565	0.226000	0.23696	0.014000	0.15608	0.002000	0.02628	3.077000	0.50089	1.422000	0.47177	0.397000	0.26171	CAA		0.527	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		52	73	0	0	0	1	0	52	73					G	74853701	T	G	74853701	3	3	402	1	0	0	0	0	1	0	0	0	12303	1838	64	5	278	5	PPBP	4	74853701	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	59797870	74853701	116300575	20	35453											
FRAS1	80144	broad.mit.edu	37	chr4	79296998	79296998	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtttacaactgtgttcctgGcttttctgtccacacctcta	6	12	2	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:79296998G>C	ENST00000325942.6	+	26	3697	c.3257G>C	c.(3256-3258)gGc>gCc	p.G1086A	FRAS1_ENST00000264895.6_Missense_Mutation_p.G1086A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1086					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						TGTGTTCCTGGCTTTTCTGTC	0.478																																						ENST00000264895.6																			0				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						c.(3256-3258)gGc>gCc		Fraser syndrome 1							150	142	144					4																	79296998		1959	4160	6119	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79296998G>C	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.3257G>C	4.37:g.79296998G>C	ENSP00000326330:p.Gly1086Ala					FRAS1_ENST00000325942.6_Missense_Mutation_p.G1086A	p.G1086A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			26	3697	+			1085					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3257G>C	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913263	0.33815	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.93307	-3.2;-3.2	4.74	2.99	0.34606	.	0.062472	0.64402	D	0.000005	D	0.96528	0.8867	M	0.93197	3.39	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.64776	0.896;0.929	D	0.94882	0.8040	10	0.52906	T	0.07	.	7.5557	0.27822	0.2706:0.0:0.7294:0.0	.	1086;1086	E9PHH6;A2RRR8	.;.	A	1086	ENSP00000326330:G1086A;ENSP00000264895:G1086A	ENSP00000264895:G1086A	G	+	2	0	FRAS1	79516022	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	2.121000	0.41977	0.531000	0.28639	0.563000	0.77884	GGC		0.478	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			21	43	0	0	0	1	0	21	43					C	79296998	G	C	79296998	3	2	402	1	0	0	0	0	1	0	0	0	6042	1203	42	4	3359	4	FRAS1	4	79296998	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	4443297	79296998	111857278	21	35454											
FHDC1	85462	broad.mit.edu	37	chr4	153864692	153864692	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttaaattcatccttcagAgaagctcgagaagaggtaag	9	7	2	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:153864692A>G	ENST00000511601.1	+	2	671	c.483A>G	c.(481-483)agA>agG	p.R161R	FHDC1_ENST00000260008.3_Silent_p.R161R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	161	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)					CATCCTTCAGAGAAGCTCGAG	0.428																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				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						c.(481-483)agA>agG		FH2 domain containing 1							51	56	55					4																	153864692		2193	4297	6490	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153864692A>G	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.483A>G	4.37:g.153864692A>G						FHDC1_ENST00000260008.3_Silent_p.R161R	p.R161R			Q9C0D6	FHDC1_HUMAN			2	671	+	all_hematologic(180;0.093)		161			FH2.			Silent	SNP	ENST00000511601.1	37	c.483A>G	CCDS34081.1																																																																																				0.428	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		51	84	0	0	0	1	0	51	84					G	153864692	A	G	153864692	2	3	402	1	0	0	0	0	0	0	0	1	5876	301	11	3		3	FHDC1	4	153864692	Silent	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	74567694	153864692	37289584	22	35455											
SORBS2	8470	broad.mit.edu	37	chr4	186559269	186559269	+	Intron	DEL	C	C	-													agttctgaaaagaatttataCcagggctcattttctaaatc							TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:186559269delC	ENST00000284776.7	-	11	1194				SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.W290fs|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGAATTTATACCAGGGCTCAT	0.383																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000393528.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(868-870)tgfs		sorbin and SH3 domain containing 2							123	119	120					4																	186559269		1831	4077	5908	SO:0001627	intron_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186559269delC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.685-7517G>-	4.37:g.186559269delC						SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	p.W290fs	NM_003603.5	NP_003594.3	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	12	1607	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	228					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Del	DEL	ENST00000284776.7	37	c.870delG	CCDS3845.1																																																																																				0.383	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		92	187						92	187	---	---	---	---	-	186559269	C	-	186559269	6	5	402	0	1	1	0	1	0	0	0	0	14928	508	18	0		0	SORBS2	4	186559269	Intron	DEL	C	TCGA-R8-A6MO-01A-11D-A33T-08	32694577	186559269	4595007	23	35456											
EGFLAM	133584	broad.mit.edu	37	chr5	38464075	38464075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaacatcaacacttGtggagccaagtaacaccagc	9	10	1	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:38464075G>T	ENST00000354891.3	+	23	3387	c.3041G>T	c.(3040-3042)tGt>tTt	p.C1014F	EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000322350.5_Missense_Mutation_p.C1006F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|CTD-2263F21.1_ENST00000510137.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1014	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					ATCAACACTTGTGGAGCCAAG	0.537																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				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						c.(3016-3018)tGt>tTt		EGF-like, fibronectin type III and laminin G domains							114	90	98					5																	38464075		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38464075G>T	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.3041G>T	5.37:g.38464075G>T	ENSP00000346964:p.Cys1014Phe					EGFLAM_ENST00000354891.3_Missense_Mutation_p.C1014F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F	p.C1006F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			22	3363	+	all_lung(31;0.000385)		1014			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.3017G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339518	0.81911	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;D;D;D;D;D	0.99541	0.01;-0.09;-1.83;-2.12;-6.12;-6.12;-6.12	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.98258	1.0497	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	372;772;1014;1006	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	F	1014;1006;772;372;772;149;149;149	ENSP00000346964:C1014F;ENSP00000313084:C1006F;ENSP00000337607:C772F;ENSP00000380385:C372F;ENSP00000380393:C149F;ENSP00000425579:C149F;ENSP00000423228:C149F	ENSP00000313084:C1006F	C	+	2	0	EGFLAM	38499832	1.000000	0.71417	0.928000	0.36995	0.960000	0.62799	9.171000	0.94802	2.826000	0.97356	0.655000	0.94253	TGT		0.537	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		46	72	1	0	3.39706e-21	1	3.80267e-21	46	72					T	38464075	G	T	38464075	3	4	402	1	0	0	0	0	1	0	0	0	4966	1377	48	4	3117	4	EGFLAM	5	38464075	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		38464075	142451185	24	35457											
TIMD4	91937	broad.mit.edu	37	chr5	156378598	156378598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccggaagggtgcttgGggttagtgaaaggcacgtgt	16	7	0	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:156378598G>A	ENST00000274532.2	-	3	660	c.604C>T	c.(604-606)Cca>Tca	p.P202S	TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	202	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGGTGCTTGGGGTTAGTGAA	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(604-606)Cca>Tca		T-cell immunoglobulin and mucin domain containing 4							349	303	319					5																	156378598		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156378598G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.604C>T	5.37:g.156378598G>A	ENSP00000274532:p.Pro202Ser					TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S	p.P202S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	660	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	202			Thr-rich.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.604C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	5.121	0.208023	0.09704	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.18657	2.2;2.2	4.6	0.468	0.16732	.	1.115670	0.06854	N	0.797841	T	0.11793	0.0287	N	0.17082	0.46	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.14023	0.01;0.01	T	0.33929	-0.9849	10	0.41790	T	0.15	0.1635	3.1209	0.06391	0.3111:0.0:0.5003:0.1886	.	202;202	B5MCL9;Q96H15	.;TIMD4_HUMAN	S	202	ENSP00000274532:P202S;ENSP00000385973:P202S	ENSP00000274532:P202S	P	-	1	0	TIMD4	156311176	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.029000	0.13666	0.248000	0.21435	-0.258000	0.10820	CCA		0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		64	133	0	0	0	1	0	64	133					A	156378598	G	A	156378598	3	1	402	1	0	0	0	0	1	0	0	0	15900	1232	43	2	560	2	TIMD4	5	156378598	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	117914523	156378598	24536662	25	35458											
STC2	8614	broad.mit.edu	37	chr5	172745215	172745215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccttcacctcctcccCacaggtcagcagcaagttca	7	18	3	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:172745215C>A	ENST00000265087.4	-	4	1853	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	182					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTCCTCCCCACAGGTCAGC	0.552																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(544-546)Ggg>Tgg		stanniocalcin 2							50	40	43					5																	172745215		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172745215C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.544G>T	5.37:g.172745215C>A	ENSP00000265087:p.Gly182Trp					STC2_ENST00000520593.1_5'UTR	p.G182W	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	1853	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	182						Missense_Mutation	SNP	ENST00000265087.4	37	c.544G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944713	0.92593	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80821	-0.1211	9	0.87932	D	0	-37.9052	19.196	0.93689	0.0:1.0:0.0:0.0	.	182	O76061	STC2_HUMAN	W	182	.	ENSP00000265087:G182W	G	-	1	0	STC2	172677821	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.487000	0.81328	2.531000	0.85337	0.650000	0.86243	GGG		0.552	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		3	55	1	0	6.4e-05	1	6.76056e-05	3	55					A	172745215	C	A	172745215	3	1	402	1	0	0	0	0	1	0	0	0	15275	594	21	4	368	4	STC2	5	172745215	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	16366617	172745215	8170045	26	35459											
CPEB4	80315	broad.mit.edu	37	chr5	173380277	173380277	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagagatagataaacgggTaagccttatactacattttg	10	5	0	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:173380277T>C	ENST00000265085.5	+	9	3416		c.e9+2		CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000519835.1_Missense_Mutation_p.V630A|CPEB4_ENST00000519467.1_Splice_Site|CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATAAACGGGTAAGCCTTATA	0.403																																						ENST00000519835.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1888-1890)gTa>gCa		cytoplasmic polyadenylation element binding protein 4							88	85	86					5																	173380277		2203	4300	6503	SO:0001630	splice_region_variant	80315						nucleotide binding|RNA binding	g.chr5:173380277T>C	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1962+2T>C	5.37:g.173380277T>C						CPEB4_ENST00000265085.5_Splice_Site|CPEB4_ENST00000519467.1_Splice_Site|CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site	p.V630A			Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	2092	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	655			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1889T>C	CCDS4390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.196222|4.196222	0.78902|0.78902	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000522336;ENST00000517880|ENST00000519835	.|T	.|0.23552	.|1.9	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52289	.|0.1725	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	.|T	.|0.51545	.|-0.8692	.|7	.|.	.|.	.|.	.|.	16.3634|16.3634	0.83296|0.83296	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|630	.|E5RJM0	.|.	.|A	-1|630	.|ENSP00000429048:V630A	.|.	.|V	+|+	.|2	.|0	CPEB4|CPEB4	173312883|173312883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	7.934000|7.934000	0.87649|0.87649	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	.|GTA		0.403	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	Intron	60	119	0	0	0	1	0	60	119					C	173380277	T	C	173380277	5	2	402	1	0	0	0	0	0	0	1	0	3803	1652	57	3	1998	3	CPEB4	5	173380277	Splice_Site	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	635062	173380277	7534983	27	35460											
SFRS3	6428	broad.mit.edu	37	chr6	36564571	36564571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtccattggactgtaAggtttatgtaggcaatcttg	10	7	1	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:36564571A>G	ENST00000373715.6	+	2	148	c.32A>G	c.(31-33)aAg>aGg	p.K11R	SRSF3_ENST00000339436.7_Missense_Mutation_p.K11R	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	11	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						TTGGACTGTAAGGTTTATGTA	0.398																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(31-33)aAg>aGg		serine/arginine-rich splicing factor 3							141	138	139					6																	36564571		2203	4300	6503	SO:0001583	missense	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36564571A>G	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.32A>G	6.37:g.36564571A>G	ENSP00000362820:p.Lys11Arg					SRSF3_ENST00000339436.7_Missense_Mutation_p.K11R	p.K11R	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			2	148	+			11			RRM.		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	ENST00000373715.6	37	c.32A>G	CCDS4823.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991344	0.54041	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.74526	3.02;-0.85	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.042958	0.85682	D	0.000000	T	0.52354	0.1729	N	0.05487	-0.04	0.80722	D	1	B;P	0.42161	0.152;0.772	B;P	0.47206	0.145;0.541	T	0.61700	-0.7009	10	0.35671	T	0.21	.	15.5789	0.76418	1.0:0.0:0.0:0.0	.	11;11	B4E241;P84103	.;SRSF3_HUMAN	R	11	ENSP00000362820:K11R;ENSP00000344762:K11R	ENSP00000344762:K11R	K	+	2	0	SRSF3	36672549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.140000	0.66376	0.459000	0.35465	AAG		0.398	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		123	230	0	0	0	1	0	123	230					G	36564571	A	G	36564571	3	3	402	1	0	0	0	0	1	0	0	0	14178	72	3	3	34	3	SFRS3	6	36564571	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		36564571	134550496	28	35461											
MICAL1	64780	broad.mit.edu	37	chr6	109766001	109766001	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagattcaattcctgcacCctgtggaggtcagggattgt	11	10	2	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:109766001C>T	ENST00000358807.3	-	24	3293	c.2982G>A	c.(2980-2982)acG>acA	p.T994T	MICAL1_ENST00000358577.3_Splice_Site_p.T908T|MICAL1_ENST00000368952.4_Splice_Site_p.T1013T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	994					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)		ATTCCTGCACCCTGTGGAGGT	0.577																																						ENST00000368952.4																			0				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						c.e24-1		microtubule associated monooxygenase, calponin and LIM domain containing 1							108	98	101					6																	109766001		2203	4300	6503	SO:0001630	splice_region_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766001C>T	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.2982-1G>A	6.37:g.109766001C>T						MICAL1_ENST00000358807.3_Splice_Site_p.T994_splice|MICAL1_ENST00000358577.3_Splice_Site_p.T908_splice	p.T1013_splice			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	24	3329	-		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)	994					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Splice_Site	SNP	ENST00000358807.3	37	c.3038_splice	CCDS5076.1																																																																																				0.577	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	Silent	5	155	0	0	0	1	0	5	155					T	109766001	C	T	109766001	5	4	402	1	0	0	0	0	0	0	1	0	9569	637	22	2	229	2	MICAL1	6	109766001	Splice_Site	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	73201430	109766001	61349066	29	35462											
EPB41L2	2037	broad.mit.edu	37	chr6	131222116	131222116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacctgtgggttttgtgCagctctgccaccttctcttc	9	13	2	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:131222116C>T	ENST00000337057.3	-	7	1315	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	EPB41L2_ENST00000527659.1_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	378	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGGTTTTGTGCAGCTCTGCCA	0.473																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1132-1134)ctG>ctA		erythrocyte membrane protein band 4.1-like 2							215	195	202					6																	131222116		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222116C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1134G>A	6.37:g.131222116C>T						EPB41L2_ENST00000527659.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L	p.L378L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1315	-	Breast(56;0.0639)		378			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1134G>A	CCDS5141.1																																																																																				0.473	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			6	367	0	0	0	1	0	6	367					T	131222116	C	T	131222116	2	4	402	1	0	0	0	0	0	0	0	1	5153	697	25	2		2	EPB41L2	6	131222116	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	21456115	131222116	39892951	30	35463											
SERPINE1	5054	broad.mit.edu	37	chr7	100779027	100779027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgtcgcgcaggcgctGcagaaagtgaagatcgaggt	14	11	0	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:100779027G>A	ENST00000223095.4	+	7	1189	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	SERPINE1_ENST00000445463.2_Silent_p.L329L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	344					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|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)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGCAGGCGCTGCAGAAAGTGA	0.572																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1030-1032)ctG>ctA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						91	82	85					7																	100779027		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779027G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1032G>A	7.37:g.100779027G>A						SERPINE1_ENST00000445463.2_Silent_p.L329L	p.L344L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1189	+	Lung NSC(181;0.136)|all_lung(186;0.182)		344					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1032G>A	CCDS5711.1																																																																																				0.572	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		4	147	0	0	0	1	0	4	147					A	100779027	G	A	100779027	2	1	402	1	0	0	0	0	0	0	0	1	14111	1306	46	2		2	SERPINE1	7	100779027	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		100779027	58359636	31	35464											
LRGUK	136332	broad.mit.edu	37	chr7	133886296	133886296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaataccttggattgactgAggaacctgccaagagtttgg	12	7	0	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:133886296A>G	ENST00000285928.2	+	15	1880	c.1811A>G	c.(1810-1812)gAg>gGg	p.E604G		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	604						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATTGACTGAGGAACCTGCC	0.388																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1810-1812)gAg>gGg		leucine-rich repeats and guanylate kinase domain containing							120	106	111					7																	133886296		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133886296A>G	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1811A>G	7.37:g.133886296A>G	ENSP00000285928:p.Glu604Gly						p.E604G	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			15	1880	+			604					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1811A>G	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979324	0.34942	.	.	ENSG00000155530	ENST00000285928	T	0.39229	1.09	4.89	3.71	0.42584	.	0.417365	0.22918	N	0.054042	T	0.41789	0.1174	M	0.72118	2.19	0.22479	N	0.999062	B	0.11235	0.004	B	0.10450	0.005	T	0.41662	-0.9496	10	0.62326	D	0.03	-10.0626	9.6636	0.39969	0.8243:0.1757:0.0:0.0	.	604	Q96M69	LRGUK_HUMAN	G	604	ENSP00000285928:E604G	ENSP00000285928:E604G	E	+	2	0	LRGUK	133536836	0.684000	0.27642	0.075000	0.20258	0.086000	0.17979	3.536000	0.53582	0.792000	0.33850	0.459000	0.35465	GAG		0.388	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		50	85	0	0	0	1	0	50	85					G	133886296	A	G	133886296	3	3	402	1	0	0	0	0	1	0	0	0	8943	304	11	3	1869	3	LRGUK	7	133886296	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	33107269	133886296	25252367	32	35465											
ASAH1	427	broad.mit.edu	37	chr8	17919903	17919903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggttttagttgctcagttAtgacccaggtatcattattt	8	6	2	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr8:17919903A>G	ENST00000262097.6	-	8	844	c.533T>C	c.(532-534)aTa>aCa	p.I178T	ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T|ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	178					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTGCTCAGTTATGACCCAGGT	0.373																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(532-534)aTa>aCa		N-acylsphingosine amidohydrolase (acid ceramidase) 1							142	144	143					8																	17919903		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17919903A>G	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"N-acylsphingosine amidohydrolase (acid ceramidase)"	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.533T>C	8.37:g.17919903A>G	ENSP00000262097:p.Ile178Thr					ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T|ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T|ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T	p.I178T	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	8	844	-			178					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.533T>C	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137719	0.56936	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.23	5.23	0.72850	.	0.507513	0.24005	N	0.042435	T	0.80341	0.4605	L	0.46885	1.475	0.40036	D	0.975594	B;B;B;B	0.28055	0.121;0.199;0.086;0.086	B;B;B;B	0.32211	0.14;0.087;0.142;0.142	T	0.79738	-0.1677	10	0.52906	T	0.07	-11.3409	15.0751	0.72071	1.0:0.0:0.0:0.0	.	172;194;153;178	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	T	178;194;153;88;172	ENSP00000262097:I178T;ENSP00000371152:I194T;ENSP00000427751:I153T;ENSP00000394125:I88T;ENSP00000326970:I172T	ENSP00000262097:I178T	I	-	2	0	ASAH1	17964183	0.999000	0.42202	0.643000	0.29450	0.944000	0.59088	8.601000	0.90864	2.101000	0.63845	0.533000	0.62120	ATA		0.373	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		71	136	0	0	0	1	0	71	136					G	17919903	A	G	17919903	3	3	402	1	0	0	0	0	1	0	0	0	1006	449	16	3	682	3	ASAH1	8	17919903	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		17919903	128444119	33	35466											
ABCA2	20	broad.mit.edu	37	chr9	139907686	139907686	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagccgttggcgggagacttGagcacgcaggtggcacccac	16	12	0	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr9:139907686G>T	ENST00000371605.3	-	29	4779	c.4632C>A	c.(4630-4632)ctC>ctA	p.L1544L	ABCA2_ENST00000341511.6_Silent_p.L1545L|ABCA2_ENST00000265662.5_Silent_p.L1545L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1544					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)		CGGGAGACTTGAGCACGCAGG	0.701																																						ENST00000265662.5																			0				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						c.(4633-4635)ctC>ctA		ATP-binding cassette, sub-family A (ABC1), member 2							7	10	9					9																	139907686		1855	3931	5786	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907686G>T	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.4632C>A	9.37:g.139907686G>T						ABCA2_ENST00000341511.6_Silent_p.L1545L|ABCA2_ENST00000371605.3_Silent_p.L1544L	p.L1545L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	30	4782	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1544					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4635C>A																																																																																					0.701	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	32	1	0	1	1	1	3	32					T	139907686	G	T	139907686	2	4	402	1	0	0	0	0	0	0	0	1	32	1277	45	4		4	ABCA2	9	139907686	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		139907686	1305745	34	35467											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	324						7	324	---	---	---	---	-	81070789	CTC	-	81070787	7	5	402	1	0	1	0	1	0	0	0	0	17693	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-R8-A6MO-01A-11D-A33T-08		81070787	54463960	35	35468											
OR6Q1	219952	broad.mit.edu	37	chr11	57799202	57799202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttctatggcactcttTtctttatgtatgtccagacc	6	12	4	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:57799202T>C	ENST00000302622.3	+	1	801	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCACTCTTTTCTTTATGTA	0.517																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(778-780)Ttc>Ctc		olfactory receptor, family 6, subfamily Q, member 1							178	158	165					11																	57799202		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799202T>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"GPCR / Class A : Olfactory receptors"	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.778T>C	11.37:g.57799202T>C	ENSP00000307734:p.Phe260Leu					OR9Q1_ENST00000335397.3_Intron	p.F260L	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	801	+		Breast(21;0.0707)|all_epithelial(135;0.142)	260					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.778T>C	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	7.415	0.635611	0.14322	.	.	ENSG00000172381	ENST00000302622	T	0.32023	1.47	5.14	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001124	T	0.10937	0.0267	N	0.04686	-0.185	0.09310	N	0.999999	B	0.16603	0.018	B	0.15052	0.012	T	0.26916	-1.0089	10	0.11485	T	0.65	.	4.1437	0.10205	0.4432:0.0892:0.0:0.4676	.	260	Q8NGQ2	OR6Q1_HUMAN	L	260	ENSP00000307734:F260L	ENSP00000307734:F260L	F	+	1	0	OR6Q1	57555778	0.000000	0.05858	0.469000	0.27204	0.784000	0.44337	-0.134000	0.10436	0.764000	0.33197	0.523000	0.50628	TTC		0.517	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		6	265	0	0	0	1	0	6	265					C	57799202	T	C	57799202	3	2	402	1	0	0	0	0	1	0	0	0	11208	1841	64	3	780	3	OR6Q1	11	57799202	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08		57799202	77207314	36	35469											
HTR3A	3359	broad.mit.edu	37	chr11	113857403	113857403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactcggtcttcctgatcaTcgtttctgacacgctgccgg	9	14	3	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:113857403T>G	ENST00000504030.2	+	7	1314	c.869T>G	c.(868-870)aTc>aGc	p.I290S	HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S|HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	290					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)	TTCCTGATCATCGTTTCTGAC	0.592																																						ENST00000504030.2																			0				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						c.(868-870)aTc>aGc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						103	82	89					11																	113857403		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857403T>G	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.869T>G	11.37:g.113857403T>G	ENSP00000424189:p.Ile290Ser					HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S|HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S	p.I290S			P46098	5HT3A_HUMAN		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)	7	1314	+		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)	290					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.869T>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.450519	0.84101	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	M	0.62154	1.92	0.80722	D	1	P;P;D	0.53745	0.909;0.609;0.962	P;P;P	0.62491	0.85;0.543;0.903	D	0.91267	0.5041	10	0.87932	D	0	-18.2763	14.8248	0.70104	0.0:0.0:0.0:1.0	.	275;296;296	B4DSY6;G5E986;Q7KZM7	.;.;.	S	290;296;296;290;34;275	ENSP00000424189:I290S;ENSP00000347754:I296S;ENSP00000364648:I296S;ENSP00000424776:I290S;ENSP00000437776:I34S;ENSP00000299961:I275S	ENSP00000299961:I275S	I	+	2	0	HTR3A	113362613	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	6.244000	0.72391	1.961000	0.56991	0.459000	0.35465	ATC		0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		5	171	0	0	0	1	0	5	171					G	113857403	T	G	113857403	3	3	402	1	0	0	0	0	1	0	0	0	7444	1435	50	5	939	5	HTR3A	11	113857403	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	56058201	113857403	21149113	37	35470											
PA2G4	5036	broad.mit.edu	37	chr12	56505011	56505011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagttctgctcatgcccaAtggccccatgcggataacca	8	14	2	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:56505011A>G	ENST00000303305.6	+	11	1402	c.983A>G	c.(982-984)aAt>aGt	p.N328S	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	328	Necessary for nucleolar localization.				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)			CTCATGCCCAATGGCCCCATG	0.433																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(982-984)aAt>aGt		proliferation-associated 2G4, 38kDa							102	98	99					12																	56505011		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505011A>G	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.983A>G	12.37:g.56505011A>G	ENSP00000302886:p.Asn328Ser					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	p.N328S	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		11	1402	+			328			Necessary for nucleolar localization.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.983A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587866	0.66105	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	5.95	5.95	0.96441	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.43646	1.37	0.80722	D	1	B;B	0.19445	0.005;0.036	B;B	0.19148	0.024;0.016	T	0.51926	-0.8643	9	0.41790	T	0.15	.	15.4063	0.74881	1.0:0.0:0.0:0.0	.	328;328	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	S	328;357;328	.	ENSP00000302886:N328S	N	+	2	0	PA2G4	54791278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.279000	0.76181	0.533000	0.62120	AAT		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		69	165	0	0	0	1	0	69	165					G	56505011	A	G	56505011	3	3	402	1	0	0	0	0	1	0	0	0	11361	101	4	3	1025	3	PA2G4	12	56505011	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		56505011	77346884	38	35471											
CCDC60	160777	broad.mit.edu	37	chr12	119909928	119909928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaataaattccagccagcCgaaaagatctcagaaatcca	6	10	1	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:119909928C>T	ENST00000327554.2	+	3	765	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	100										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCAGCCAGCCGAAAAGATCT	0.423																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(298-300)gcC>gcT		coiled-coil domain containing 60							157	163	161					12																	119909928		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119909928C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.300C>T	12.37:g.119909928C>T						RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	p.A100A	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	765	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		100						Silent	SNP	ENST00000327554.2	37	c.300C>T	CCDS9190.1																																																																																				0.423	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		102	249	0	0	0	1	0	102	249					T	119909928	C	T	119909928	2	4	402	1	0	0	0	0	0	0	0	1	2831	639	23	1		1	CCDC60	12	119909928	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	63404917	119909928	13941967	39	35472											
CENPJ	55835	broad.mit.edu	37	chr13	25487066	25487066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaataggaaatccaCgatttaatatgaccccagcc	5	12	0	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr13:25487066C>T	ENST00000381884.4	-	2	283	c.98G>A	c.(97-99)cGt>cAt	p.R33H	CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	33					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGAAATCCACGATTTAATAT	0.448																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(97-99)cGt>cAt		centromere protein J							68	65	66					13																	25487066		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25487066C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.98G>A	13.37:g.25487066C>T	ENSP00000371308:p.Arg33His					CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H	p.R33H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	283	-		Lung SC(185;0.0225)|Breast(139;0.0602)	33					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.98G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184550	0.38609	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17854	2.25;2.25	5.28	3.56	0.40772	.	0.390704	0.25175	N	0.032577	T	0.17323	0.0416	M	0.73962	2.25	0.25294	N	0.989332	B	0.30179	0.271	B	0.19148	0.024	T	0.23368	-1.0190	10	0.62326	D	0.03	.	5.9903	0.19456	0.0:0.6737:0.1546:0.1717	.	33	Q9HC77	CENPJ_HUMAN	H	33	ENSP00000371308:R33H;ENSP00000441090:R33H	ENSP00000371308:R33H	R	-	2	0	CENPJ	24385066	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.413000	0.34725	0.620000	0.30215	0.655000	0.94253	CGT		0.448	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		4	162	0	0	0	1	0	4	162					T	25487066	C	T	25487066	3	4	402	1	0	0	0	0	1	0	0	0	3234	536	19	1	3982	1	CENPJ	13	25487066	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		25487066	89682812	40	35473											
RBBP6	5930	broad.mit.edu	37	chr16	24582966	24582966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgcctaaaaaaggaacaGgagattccaaaaaaagtaat	7	5	0	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:24582966G>A	ENST00000319715.4	+	18	5011	c.4579G>A	c.(4579-4581)Gga>Aga	p.G1527R	RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R|RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1527	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGGAACAGGAGATTCCAA	0.373																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4579-4581)Gga>Aga		retinoblastoma binding protein 6							39	38	38					16																	24582966		2197	4298	6495	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582966G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4579G>A	16.37:g.24582966G>A	ENSP00000317872:p.Gly1527Arg					RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R|RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R	p.G1527R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5011	+			1527			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4579G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291961	0.40594	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17854	2.25;2.57;2.56	5.66	4.71	0.59529	.	0.533626	0.18556	N	0.137766	T	0.11665	0.0284	L	0.27053	0.805	0.20489	N	0.999893	B;B;B	0.15473	0.013;0.003;0.001	B;B;B	0.15870	0.014;0.009;0.004	T	0.27839	-1.0062	10	0.18710	T	0.47	-7.6788	10.143	0.42747	0.0706:0.0:0.7926:0.1368	.	687;1493;1527	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	R	687;1527;1493	ENSP00000370427:G687R;ENSP00000317872:G1527R;ENSP00000316291:G1493R	ENSP00000317872:G1527R	G	+	1	0	RBBP6	24490467	0.400000	0.25295	0.995000	0.50966	0.991000	0.79684	4.178000	0.58284	1.403000	0.46800	0.557000	0.71058	GGA		0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		32	52	0	0	0	1	0	32	52					A	24582966	G	A	24582966	3	1	402	1	0	0	0	0	1	0	0	0	13103	1001	35	2	4703	2	RBBP6	16	24582966	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		24582966	65771787	41	35474											
IRX5	10265	broad.mit.edu	37	chr16	54967008	54967008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagctgagcagaaggcGgcttcgggctgcgaacggct	19	9	0	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967008G>A	ENST00000394636.4	+	3	1012	c.675G>A	c.(673-675)gcG>gcA	p.A225A	IRX5_ENST00000320990.5_Silent_p.A224A|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.A159A			P78411	IRX5_HUMAN	iroquois homeobox 5	225					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AGCAGAAGGCGGCTTCGGGCT	0.706																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(673-675)gcG>gcA		iroquois homeobox 5							8	9	9					16																	54967008		2112	4175	6287	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967008G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.675G>A	16.37:g.54967008G>A						IRX5_ENST00000320990.5_Silent_p.A224A|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.A159A	p.A225A			P78411	IRX5_HUMAN			3	1012	+			225					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.675G>A	CCDS10751.1																																																																																				0.706	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			18	14	0	0	0	1	0	18	14					A	54967008	G	A	54967008	2	1	402	1	0	0	0	0	0	0	0	1	7847	1103	39	1		1	IRX5	16	54967008	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	30384042	54967008	35387745	42	35475											
IRX5	10265	broad.mit.edu	37	chr16	54967130	54967131	+	Frame_Shift_Ins	INS	-	-	C													cgcctcgacgcgctgcagggINSccccccccgcaccggcgggc							TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967130_54967131insC	ENST00000394636.4	+	3	1134_1135	c.797_798insC	c.(796-801)ggccccfs	p.GP266fs	IRX5_ENST00000320990.5_Frame_Shift_Ins_p.GP265fs|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.GP200fs			P78411	IRX5_HUMAN	iroquois homeobox 5	266					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCGCTGCAgggccccccccgca	0.792																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(796-798)gccfs		iroquois homeobox 5																																				SO:0001589	frameshift_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967130_54967131insC	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.805dupC	16.37:g.54967138_54967138dupC	ENSP00000378132:p.Gly266fs					IRX5_ENST00000320990.5_Frame_Shift_Ins_p.A265fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.A200fs	p.A266fs			P78411	IRX5_HUMAN			3	1134_1135	+			266					H0YMS7|P78416|Q7Z2E1	Frame_Shift_Ins	INS	ENST00000394636.4	37	c.797_798insC	CCDS10751.1																																																																																				0.792	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			2	4						2	4	---	---	---	---	C	54967131	-	C	54967130	7	5	402	1	0	1	1	0	0	0	0	0	7847	1203	42	0	807	0	IRX5	16	54967130	Frame_Shift_Ins	INS	-	TCGA-R8-A6MO-01A-11D-A33T-08	122	54967130	35387623	43	35476											
ZFPM1	161882	broad.mit.edu	37	chr16	88600445	88600445	+	Frame_Shift_Del	DEL	C	C	-													gcctgcaacatccgcttcagCcgccacgagacctacaccgt							TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:88600445delC	ENST00000319555.3	+	10	2401	c.2079delC	c.(2077-2079)agcfs	p.S693fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	693					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	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)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGCTTCAGCCGCCACGAGA	0.761																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2077-2079)agfs		zinc finger protein, FOG family member 1							5	5	5					16																	88600445		1479	3177	4656	SO:0001589	frameshift_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600445delC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2079delC	16.37:g.88600445delC	ENSP00000326630:p.Ser693fs						p.S693fs	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2401	+			693						Frame_Shift_Del	DEL	ENST00000319555.3	37	c.2079delC	CCDS32502.1																																																																																				0.761	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			2	4						2	4	---	---	---	---	-	88600445	C	-	88600445	7	5	402	1	0	1	0	1	0	0	0	0	17654	738	26	0	2117	0	ZFPM1	16	88600445	Frame_Shift_Del	DEL	C	TCGA-R8-A6MO-01A-11D-A33T-08	33633315	88600445	1754308	44	35477											
KCNJ12	3768	broad.mit.edu	37	chr17	21319252	21319252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctgttcagccacaacGccgtggtggccctgcgtgac	13	15	1	1	rs561218777		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr17:21319252G>A	ENST00000583088.1	+	3	1493	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	200					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAGCCACAACGCCGTGGTGGC	0.612										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(598-600)Gcc>Acc		potassium inwardly-rectifying channel, subfamily J, member 12							83	73	76					17																	21319252		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319252G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.598G>A	17.37:g.21319252G>A	ENSP00000463778:p.Ala200Thr	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T	p.A200T	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1493	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.598G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784982	0.90282	.	.	ENSG00000184185	ENST00000331718	D	0.95171	-3.63	5.32	5.32	0.75619	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	0.98510	0.9503	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99731	1.1012	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	200	Q14500	IRK12_HUMAN	T	200	ENSP00000328150:A200T	ENSP00000328150:A200T	A	+	1	0	KCNJ12	21259845	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GCC		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		18	101	0	0	0	1	0	18	101					A	21319252	G	A	21319252	3	1	402	1	0	0	0	0	1	0	0	0	8046	1087	38	1	600	1	KCNJ12	17	21319252	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		21319252	59875958	45	35478											
ARRDC5	645432	broad.mit.edu	37	chr19	4896810	4896810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacatggccaaatttgCtggtgaaggtagaaggaagc	14	5	0	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:4896810C>T	ENST00000381781.2	-	2	373	c.374G>A	c.(373-375)aGc>aAc	p.S125N		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	125										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCCAAATTTGCTGGTGAAGGT	0.448																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(373-375)aGc>aAc		arrestin domain containing 5							156	150	152					19																	4896810		1925	4146	6071	SO:0001583	missense	645432				signal transduction			g.chr19:4896810C>T		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.374G>A	19.37:g.4896810C>T	ENSP00000371200:p.Ser125Asn						p.S125N	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	373	-			125						Missense_Mutation	SNP	ENST00000381781.2	37	c.374G>A	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327806	0.24080	.	.	ENSG00000205784	ENST00000381781	T	0.14766	2.48	4.37	3.34	0.38264	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.273852	0.26289	N	0.025240	T	0.24812	0.0602	L	0.44542	1.39	0.24734	N	0.993074	D	0.71674	0.998	D	0.72338	0.977	T	0.01056	-1.1466	10	0.46703	T	0.11	-20.2308	9.8897	0.41283	0.0:0.8975:0.0:0.1025	.	125	A6NEK1	ARRD5_HUMAN	N	125	ENSP00000371200:S125N	ENSP00000371200:S125N	S	-	2	0	ARRDC5	4847810	1.000000	0.71417	0.991000	0.47740	0.061000	0.15899	2.130000	0.42064	2.453000	0.82957	0.579000	0.79373	AGC		0.448	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		5	196	0	0	0	1	0	5	196					T	4896810	C	T	4896810	3	4	402	1	0	0	0	0	1	0	0	0	986	797	28	2	662	2	ARRDC5	19	4896810	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		4896810	54232173	46	35479											
CDC37	11140	broad.mit.edu	37	chr19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacctttaggctcttggCcagctccaggataaattgca	9	12	1	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:10505756C>T	ENST00000222005.2	-	5	720	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	223					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(667-669)Gcc>Acc		cell division cycle 37							76	72	73					19																	10505756		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505756C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.667G>A	19.37:g.10505756C>T	ENSP00000222005:p.Ala223Thr						p.A223T	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	5	720	-			223					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.667G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254584	0.80135	.	.	ENSG00000105401	ENST00000222005	T	0.54279	0.58	3.94	3.94	0.45596	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.77616	2.38	0.80722	D	1	P;P	0.43938	0.822;0.822	B;B	0.43331	0.416;0.416	T	0.67991	-0.5527	10	0.87932	D	0	.	13.8297	0.63373	0.0:1.0:0.0:0.0	.	223;223	Q6FG59;Q16543	.;CDC37_HUMAN	T	223	ENSP00000222005:A223T	ENSP00000222005:A223T	A	-	1	0	CDC37	10366756	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.996000	0.76263	1.913000	0.55393	0.561000	0.74099	GCC		0.592	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		4	174	0	0	0	1	0	4	174					T	10505756	C	T	10505756	3	4	402	1	0	0	0	0	1	0	0	0	3068	739	26	2	485	2	CDC37	19	10505756	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5608946	10505756	48623227	47	35480											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	12	15	2	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			47	34	0	0	0	1	0	47	34					T	42791757	C	T	42791757	3	4	402	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	32286001	42791757	16337226	48	35481											
TRMT6	51605	broad.mit.edu	37	chr20	5927167	5927167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtagaaccactgtttttcGaaagttacttttctagggaa	9	6	1	1	rs374176622		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr20:5927167G>A	ENST00000203001.2	-	2	271	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	47					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACTGTTTTTCGAAAGTTACTT	0.373																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(139-141)ttC>ttT		tRNA methyltransferase 6 homolog (S. cerevisiae)		G		2,4404	4.2+/-10.8	0,2,2201	126	105	112		141	3.2	1	20		112	0,8600		0,0,4300	no	coding-synonymous	TRMT6	NM_015939.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		47/498	5927167	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5927167G>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.141C>T	20.37:g.5927167G>A						TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.F47F	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			2	271	-			47					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.141C>T	CCDS13093.1																																																																																				0.373	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			43	80	0	0	0	1	0	43	80					A	5927167	G	A	5927167	2	1	402	1	0	0	0	0	0	0	0	1	16565	1049	37	1		1	TRMT6	20	5927167	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		5927167	57098353	49	35482											
SAMSN1	64092	broad.mit.edu	37	chr21	15882705	15882705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcacggccacagaatgGtcctgaataggggccatcgt	13	11	1	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr21:15882705G>A	ENST00000400566.1	-	5	568	c.487C>T	c.(487-489)Cca>Tca	p.P163S	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.P231S	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	163					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)		CCACAGAATGGTCCTGAATAG	0.502																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(691-693)Cca>Tca		SAM domain, SH3 domain and nuclear localization signals 1							130	129	129					21																	15882705		2156	4273	6429	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882705G>A	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.487C>T	21.37:g.15882705G>A	ENSP00000383411:p.Pro163Ser					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.P163S	p.P231S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	865	-			163					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.691C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943791	0.92593	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	Src homology-3 domain (1);	0.169936	0.53938	D	0.000054	T	0.72669	0.3489	M	0.80028	2.48	0.58432	D	0.999994	D;D	0.89917	1.0;0.985	D;P	0.91635	0.999;0.882	T	0.74031	-0.3795	10	0.59425	D	0.04	-16.6638	20.012	0.97458	0.0:0.0:1.0:0.0	.	231;163	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	S	231;163	ENSP00000285670:P231S;ENSP00000383411:P163S	ENSP00000285670:P231S	P	-	1	0	SAMSN1	14804576	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.448000	0.73469	2.731000	0.93534	0.655000	0.94253	CCA		0.502	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			15	166	0	0	0	1	0	15	166					A	15882705	G	A	15882705	3	1	402	1	0	0	0	0	1	0	0	0	13830	1261	44	2	650	2	SAMSN1	21	15882705	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		15882705	32247190	50	35483											
TSSK2	23617	broad.mit.edu	37	chr22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcaagatcatcgaccGcaagaaaacacctactgact	8	12	2	3	rs368344123		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(133-135)cGc>cAc		testis-specific serine kinase 2							79	71	74					22																	19119046		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119046G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.134G>A	22.37:g.19119046G>A	ENSP00000382544:p.Arg45His					DGCR14_ENST00000252137.6_3'UTR	p.R45H	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	726	+	Colorectal(54;0.0993)		45			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.134G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719159	0.68844	.	.	ENSG00000206203	ENST00000399635	T	0.66099	-0.19	5.35	5.35	0.76521	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	0.51477	D	0.000100	T	0.69851	0.3157	L	0.37897	1.145	0.33361	D	0.57239	D	0.89917	1.0	D	0.71414	0.973	T	0.78147	-0.2317	10	0.87932	D	0	.	13.5853	0.61926	0.0:0.1561:0.8438:0.0	.	45	Q96PF2	TSSK2_HUMAN	H	45	ENSP00000382544:R45H	ENSP00000382544:R45H	R	+	2	0	TSSK2	17499046	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.484000	0.53201	2.506000	0.84524	0.563000	0.77884	CGC		0.488	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			4	132	0	0	0	1	0	4	132					A	19119046	G	A	19119046	3	1	402	1	0	0	0	0	1	0	0	0	16666	1087	38	1	136	1	TSSK2	22	19119046	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		19119046	32185520	51	35484											
MYO18B	84700	broad.mit.edu	37	chr22	26239776	26239776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggatgggaccctgtgCggtacgacctcacgggctgg	17	10	1	0	rs34356798		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:26239776C>T	ENST00000407587.2	+	18	3455	c.3286C>T	c.(3286-3288)Cgg>Tgg	p.R1096W	MYO18B_ENST00000335473.7_Missense_Mutation_p.R1095W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1095	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCCTGTGCGGTACGACCT	0.612																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3283-3285)Cgg>Tgg		myosin XVIIIB							80	81	80					22																	26239776		1982	4150	6132	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26239776C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3286C>T	22.37:g.26239776C>T	ENSP00000386096:p.Arg1096Trp					MYO18B_ENST00000407587.2_Missense_Mutation_p.R1096W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W	p.R1095W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			18	3533	+			1095		R -> L (in a lung adenocarcinoma sample; somatic mutation).	Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3283C>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.514755	0.85389	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.25;-2.25;-2.25	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90834	0.7121	L	0.48362	1.52	0.46564	D	0.9991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.973;0.998;0.992;0.997	D	0.91668	0.5348	10	0.72032	D	0.01	.	14.8836	0.70550	0.0:1.0:0.0:0.0	.	608;1095;1096;1095	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	1095;1095;1096	ENSP00000441229:R1095W;ENSP00000334563:R1095W;ENSP00000386096:R1096W	ENSP00000334563:R1095W	R	+	1	2	MYO18B	24569776	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.868000	0.39509	2.373000	0.80994	0.650000	0.86243	CGG		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	178	0	0	0	1	0	4	178					T	26239776	C	T	26239776	3	4	402	1	0	0	0	0	1	0	0	0	10066	759	27	1	3349	1	MYO18B	22	26239776	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	7120730	26239776	25064790	52	35485											
CHRDL1	91851	broad.mit.edu	37	chrX	109931822	109931822	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcctccaaccaacgcacCttttgcttttttacctggac	7	14	0	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:109931822C>A	ENST00000372045.1	-	9	1098	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	CHRDL1_ENST00000218054.4_Splice_Site_p.E329*|CHRDL1_ENST00000434224.1_Splice_Site_p.E250*|CHRDL1_ENST00000444321.2_Splice_Site_p.E329*|CHRDL1_ENST00000482160.1_Splice_Site_p.E250*|CHRDL1_ENST00000372042.1_Splice_Site_p.E330*|CHRDL1_ENST00000394797.4_Splice_Site_p.E329*			Q9BU40	CRDL1_HUMAN	chordin-like 1	323					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACCAACGCACCTTTTGCTTTT	0.413																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.e9+1		chordin-like 1							169	155	160					X																	109931822		2203	4300	6503	SO:0001630	splice_region_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109931822C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.967+1G>T	X.37:g.109931822C>A						CHRDL1_ENST00000434224.1_Splice_Site_p.E250_splice|CHRDL1_ENST00000394797.4_Splice_Site_p.E329_splice|CHRDL1_ENST00000372042.1_Splice_Site_p.E330_splice|CHRDL1_ENST00000444321.2_Splice_Site_p.E329_splice|CHRDL1_ENST00000372045.1_Splice_Site_p.E323_splice|CHRDL1_ENST00000482160.1_Splice_Site_p.E250_splice	p.E329_splice	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			9	1181	-			323					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Splice_Site	SNP	ENST00000372045.1	37	c.985_splice		.	.	.	.	.	.	.	.	.	.	c	36	5.684650	0.96784	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.12	5.12	0.69794	.	0.057805	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	9.196	0.37228	0.0:0.8967:0.0:0.1033	.	.	.	.	X	323;250;329;329;330;250;329	.	.	E	-	1	0	CHRDL1	109818478	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.800000	0.27042	2.469000	0.83416	0.597000	0.82753	GAA		0.413	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	Nonsense_Mutation	114	210	1	0	7.82854e-59	1	9.17407e-59	114	210					A	109931822	C	A	109931822	5	1	402	1	0	0	0	0	0	0	1	0	3373	695	24	4	404	4	CHRDL1	23	109931822	Splice_Site	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		109931822	45338738	53	35486											
MAGEA6	4105	broad.mit.edu	37	chrX	151870087	151870087	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaactacctggagtaccgGcaggtccccggcagtgatcc	12	13	0	1	rs79585035		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:151870087G>T	ENST00000329342.5	+	3	1002	c.777G>T	c.(775-777)cgG>cgT	p.R259R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	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)					TGGAGTACCGGCAGGTCCCCG	0.522																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(775-777)cgG>cgT		melanoma antigen family A, 6							126	128	127					X																	151870087		2203	4298	6501	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870087G>T		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.777G>T	X.37:g.151870087G>T							p.R259R	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1002	+	Acute lymphoblastic leukemia(192;6.56e-05)		259			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.777G>T	CCDS14708.1																																																																																				0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		182	337	1	0	3.86445e-50	1	4.45898e-50	182	337					T	151870087	G	T	151870087	2	4	402	1	0	0	0	0	0	0	0	1	9170	1190	42	4		4	MAGEA6	23	151870087	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	41938265	151870087	3400473	54	35487											
PNCK	139728	broad.mit.edu	37	chrX	152938703	152938703	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggacgcctcccagcgaggCcaccgcatacacgcctccac	9	20	0	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:152938703C>A	ENST00000370150.1	-	2	177				PNCK_ENST00000370142.1_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000370145.4_Missense_Mutation_p.G8V|PNCK_ENST00000393831.2_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							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)					CCCAGCGAGGCCACCGCATAC	0.716																																						ENST00000370145.4																			0				breast(2)|lung(3)|skin(1)	6						c.(22-24)gGc>gTc		pregnancy up-regulated nonubiquitous CaM kinase							53	58	57					X																	152938703		1555	3565	5120	SO:0001627	intron_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938703C>A	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.2-170G>T	X.37:g.152938703C>A						PNCK_ENST00000447676.2_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000370150.1_Intron	p.G8V	NM_001135740.1	NP_001129212.1	Q6P2M8	KCC1B_HUMAN			1	40	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.23G>T		.	.	.	.	.	.	.	.	.	.	c	9.668	1.145956	0.21288	.	.	ENSG00000130822	ENST00000370145	T	0.67345	-0.26	2.47	0.553	0.17235	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.09310	N	0.999998	P	0.38827	0.649	B	0.26517	0.07	T	0.35101	-0.9802	8	0.87932	D	0	.	4.5678	0.12195	0.0:0.6378:0.0:0.3622	.	8	B4E1A6	.	V	8	ENSP00000359164:G8V	ENSP00000359164:G8V	G	-	2	0	PNCK	152591897	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	-2.346000	0.01096	-0.115000	0.11915	0.423000	0.28283	GGC		0.716	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		13	26	1	0	1.3612e-06	1	1.47957e-06	13	26					A	152938703	C	A	152938703	1	1	402	0	1	0	0	0	0	0	0	0	12145	739	26	4		4	PNCK	23	152938703	Intron	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	1068616	152938703	2331857	55	35488											
ADIPOR1	51094	broad.mit.edu	37	chr1	202915646	202915646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcccgaaaggagggcatGggaggtctatgaccatgtag	15	8	1	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr1:202915646G>A	ENST00000340990.5	-	4	649	c.351C>T	c.(349-351)ccC>ccT	p.P117P	ADIPOR1_ENST00000367254.3_Silent_p.P117P|ADIPOR1_ENST00000436244.1_Silent_p.P117P	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	117					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGAGGGCATGGGAGGTCTAT	0.512																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(349-351)ccC>ccT		adiponectin receptor 1							212	168	183					1																	202915646		2203	4300	6503	SO:0001819	synonymous_variant	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202915646G>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.351C>T	1.37:g.202915646G>A						ADIPOR1_ENST00000367254.3_Silent_p.P117P|ADIPOR1_ENST00000436244.1_Silent_p.P117P	p.P117P	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	649	-			117					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	37	c.351C>T	CCDS1430.1																																																																																				0.512	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		3	52	0	0	0	1	0	3	52					A	202915646	G	A	202915646	2	1	403	1	0	0	0	0	0	0	0	1	318	1335	47	2		2	ADIPOR1	1	202915646	Silent	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		202915646	46334975	1	35489											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	23	0	0	0	1	0	17	23					T	209113112	C	T	209113112	3	4	403	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08		209113112	34086261	2	35490											
FOXQ1	94234	broad.mit.edu	37	chr6	1313791	1313791	+	Frame_Shift_Del	DEL	C	C	-													cgcaagcccttccgcagccgCcgcctcagggacacggcccc							TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr6:1313791delC	ENST00000296839.2	+	1	1117	c.852delC	c.(850-852)cgcfs	p.R285fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	285	Pro-rich.				hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCAGCCGCCGCCTCAGGG	0.776																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(850-852)cgfs		forkhead box Q1							4	4	4					6																	1313791		1775	3627	5402	SO:0001589	frameshift_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313791delC	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.852delC	6.37:g.1313791delC	ENSP00000296839:p.Arg285fs						p.R285fs	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	1117	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	285			Pro-rich.		Q9NS06	Frame_Shift_Del	DEL	ENST00000296839.2	37	c.852delC	CCDS4471.1																																																																																				0.776	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		2	4						2	4	---	---	---	---	-	1313791	C	-	1313791	7	5	403	1	0	1	0	1	0	0	0	0	6030	726	26	0	854	0	FOXQ1	6	1313791	Frame_Shift_Del	DEL	C	TCGA-R8-A6YH-01A-21D-A32B-08		1313791	169801276	3	35491											
TTBK1	84630	broad.mit.edu	37	chr6	43223344	43223344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacatgctggtggagtttGcagtgggccagctgccctgg	15	10	1	0			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr6:43223344G>T	ENST00000259750.4	+	8	780	c.697G>T	c.(697-699)Gca>Tca	p.A233S	TTBK1_ENST00000304139.5_Missense_Mutation_p.A182S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGTGGAGTTTGCAGTGGGCCA	0.632																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(697-699)Gca>Tca		tau tubulin kinase 1							45	43	43					6																	43223344		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43223344G>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.697G>T	6.37:g.43223344G>T	ENSP00000259750:p.Ala233Ser					TTBK1_ENST00000304139.5_Missense_Mutation_p.A182S	p.A233S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		8	780	+			233			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.697G>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670276	0.47677	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.20598	2.06	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114983	0.64402	D	0.000015	T	0.21427	0.0516	N	0.25060	0.705	0.39094	D	0.961152	D	0.60160	0.987	D	0.63192	0.912	T	0.05273	-1.0895	10	0.56958	D	0.05	.	16.7621	0.85515	0.0:0.0:1.0:0.0	.	233	Q5TCY1	TTBK1_HUMAN	S	182;233;182	ENSP00000259750:A233S	ENSP00000259750:A233S	A	+	1	0	TTBK1	43331322	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	5.717000	0.68446	2.250000	0.74265	0.563000	0.77884	GCA		0.632	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			6	7	1	0	4.096e-09	1	4.45217e-09	6	7					T	43223344	G	T	43223344	3	4	403	1	0	0	0	0	1	0	0	0	16673	1319	46	4	723	4	TTBK1	6	43223344	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08	41909553	43223344	127891723	4	35492											
SEMA4D	10507	broad.mit.edu	37	chr9	91994297	91994297	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacgtgcttggcgaccacTtggaagaccgttttgttctt	12	9	1	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr9:91994297T>C	ENST00000450295.1	-	16	2687	c.1911A>G	c.(1909-1911)caA>caG	p.Q637Q	SEMA4D_ENST00000422704.2_Silent_p.Q637Q|SEMA4D_ENST00000438547.2_Silent_p.Q637Q|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.Q637Q|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	637					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGGCGACCACTTGGAAGACCG	0.517																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1909-1911)caA>caG		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							202	202	202					9																	91994297		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994297T>C	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1911A>G	9.37:g.91994297T>C						SEMA4D_ENST00000438547.2_Silent_p.Q637Q|SEMA4D_ENST00000422704.2_Silent_p.Q637Q|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.Q637Q|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron	p.Q637Q			Q92854	SEM4D_HUMAN			16	2687	-			637					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1911A>G	CCDS6685.1																																																																																				0.517	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		6	233	0	0	0	1	0	6	233					C	91994297	T	C	91994297	2	2	403	1	0	0	0	0	0	0	0	1	14034	1606	56	3		3	SEMA4D	9	91994297	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		91994297	49219134	5	35493											
MOAP1	64112	broad.mit.edu	37	chr14	93649977	93649977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaggctctctagcaatcgcCttctcttctctacatctggc	7	14	4	0			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr14:93649977C>G	ENST00000556883.1	-	2	1095	c.611G>C	c.(610-612)aGg>aCg	p.R204T	MOAP1_ENST00000298894.4_Missense_Mutation_p.R204T|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	204	RASSF1-binding.				apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tagcaatcgccttctcttctc	0.463																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(610-612)aGg>aCg		modulator of apoptosis 1							69	77	74					14																	93649977		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649977C>G	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.611G>C	14.37:g.93649977C>G	ENSP00000451594:p.Arg204Thr					MOAP1_ENST00000298894.4_Missense_Mutation_p.R204T	p.R204T			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	1095	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	204			RASSF1-binding.		B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.611G>C	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932320	0.52866	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.13307	2.6;2.6	3.57	2.68	0.31781	.	.	.	.	.	T	0.27384	0.0672	M	0.75085	2.285	0.09310	N	1	D	0.54964	0.969	P	0.55824	0.785	T	0.06092	-1.0846	9	0.72032	D	0.01	-15.6724	6.839	0.23953	0.0:0.8749:0.0:0.1251	.	204	Q96BY2	MOAP1_HUMAN	T	204	ENSP00000298894:R204T;ENSP00000451594:R204T	ENSP00000298894:R204T	R	-	2	0	MOAP1	92719730	0.252000	0.23972	0.033000	0.17914	0.905000	0.53344	1.233000	0.32648	1.090000	0.41315	0.650000	0.86243	AGG		0.463	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			5	65	0	0	0	1	0	5	65					G	93649977	C	G	93649977	3	3	403	1	0	0	0	0	1	0	0	0	9680	681	24	4	448	4	MOAP1	14	93649977	Missense_Mutation	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08		93649977	13699563	6	35494											
ZNF710	374655	broad.mit.edu	37	chr15	90611149	90611149	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaggctgacacggcgggTtcgaccgtggaacgccacaa	14	12	0	1	rs201433675		TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr15:90611149T>G	ENST00000268154.4	+	2	1031	c.780T>G	c.(778-780)ggT>ggG	p.G260G		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	260					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(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACACGGCGGGTTCGACCGTGG	0.652																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(778-780)ggT>ggG		zinc finger protein 710							37	46	43					15																	90611149		2197	4292	6489	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611149T>G	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.780T>G	15.37:g.90611149T>G							p.G260G	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1031	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		260					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.780T>G	CCDS10358.1																																																																																				0.652	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		5	45	0	0	0	1	0	5	45					G	90611149	T	G	90611149	2	3	403	1	0	0	0	0	0	0	0	1	18112	1712	60	5		5	ZNF710	15	90611149	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		90611149	11920243	7	35495											
PSMB6	5694	broad.mit.edu	37	chr17	4699584	4699584	+	Frame_Shift_Del	DEL	C	C	-													ctgggaaagccgagaagtttCcactggggtgaggaaggaat							TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:4699584delC	ENST00000270586.3	+	1	146	c.95delC	c.(94-96)tccfs	p.S32fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	32					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)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CGAGAAGTTTCCACTGGGGTG	0.607																																						ENST00000270586.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(94-96)tcfs		proteasome (prosome, macropain) subunit, beta type, 6							22	20	21					17																	4699584		2190	4287	6477	SO:0001589	frameshift_variant	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4699584delC	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.95delC	17.37:g.4699584delC	ENSP00000270586:p.Ser32fs						p.S32fs	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN			1	146	+			32					Q96J55	Frame_Shift_Del	DEL	ENST00000270586.3	37	c.95delC	CCDS11056.1																																																																																				0.607	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		2	4						2	4	---	---	---	---	-	4699584	C	-	4699584	7	5	403	1	0	1	0	1	0	0	0	0	12681	855	30	0	97	0	PSMB6	17	4699584	Frame_Shift_Del	DEL	C	TCGA-R8-A6YH-01A-21D-A32B-08		4699584	76495626	8	35496											
TP53	7157	broad.mit.edu	37	chr17	7577115	7577115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcccaggacaggcacAaacacgcacctcaaagctgt	8	15	2	0			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:7577115A>G	ENST00000269305.4	-	8	1012	c.823T>C	c.(823-825)Tgt>Cgt	p.C275R	TP53_ENST00000445888.2_Missense_Mutation_p.C275R|TP53_ENST00000420246.2_Missense_Mutation_p.C275R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C275R	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(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)	GGACAGGCACAAACACGCACC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		36	Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Unknown(2)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	bone(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|oesophagus(2)|peritoneum(1)|urinary_tract(1)|skin(1)|lung(1)|prostate(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						c.(823-825)Tgt>Cgt	Other conserved DNA damage response genes	tumor protein p53							70	60	64					17																	7577115		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577115A>G	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.823T>C	17.37:g.7577115A>G	ENSP00000269305:p.Cys275Arg	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)				TP53_ENST00000359597.4_Missense_Mutation_p.C275R|TP53_ENST00000269305.4_Missense_Mutation_p.C275R|TP53_ENST00000445888.2_Missense_Mutation_p.C275R|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275R	p.C275R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.823T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225244	0.79576	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99873	0.9940	M	0.92738	3.34	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;1.0;0.996;0.997	D	0.96415	0.9307	10	0.87932	D	0	-17.2181	12.5624	0.56288	1.0:0.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	275;275;275;275;275;264;143	ENSP00000352610:C275R;ENSP00000269305:C275R;ENSP00000398846:C275R;ENSP00000391127:C275R;ENSP00000391478:C275R;ENSP00000425104:C143R	ENSP00000269305:C275R	C	-	1	0	TP53	7517840	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	2	0	0	0	1	0	21	2					G	7577115	A	G	7577115	3	3	403	1	0	0	0	0	1	0	0	0	16378	130	5	3	463	3	TP53	17	7577115	Missense_Mutation	SNP	A	TCGA-R8-A6YH-01A-21D-A32B-08	2877531	7577115	73618095	9	35497											
DNAH17	8632	broad.mit.edu	37	chr17	76533486	76533486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagccgcgatctgagccCacctccagggtcgggttgaa	14	12	1	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:76533486C>T	ENST00000585328.1	-	19	2869	c.2745G>A	c.(2743-2745)gtG>gtA	p.V915V	DNAH17_ENST00000389840.5_Silent_p.V918V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	918	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTGAGCCCACCTCCAGGG	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(2752-2754)gtG>gtA		dynein, axonemal, heavy chain 17							57	67	64					17																	76533486		2054	4179	6233	SO:0001819	synonymous_variant	8632							g.chr17:76533486C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2745G>A	17.37:g.76533486C>T						DNAH17_ENST00000585328.1_Silent_p.V915V	p.V918V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		19	2878	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.2754G>A																																																																																					0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6	17	0	0	0	1	0	6	17					T	76533486	C	T	76533486	2	4	403	1	0	0	0	0	0	0	0	1	4601	581	21	2		2	DNAH17	17	76533486	Silent	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08	68956371	76533486	4661724	10	35498											
ROCK1	6093	broad.mit.edu	37	chr18	18550345	18550345	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttatctgtaatctcttgTctatttcttgaagcagcttt	5	8	5	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr18:18550345T>C	ENST00000399799.2	-	23	3724	c.2784A>G	c.(2782-2784)agA>agG	p.R928R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	928	Glu-rich.				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)					TAATCTCTTGTCTATTTCTTG	0.368																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(2782-2784)agA>agG		Rho-associated, coiled-coil containing protein kinase 1							184	164	171					18																	18550345		2203	4300	6503	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18550345T>C		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.2784A>G	18.37:g.18550345T>C							p.R928R	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			23	3724	-	Melanoma(1;0.165)		928			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.2784A>G	CCDS11870.2																																																																																				0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		16	29	0	0	0	1	0	16	29					C	18550345	T	C	18550345	2	2	403	1	0	0	0	0	0	0	0	1	13517	1664	58	3		3	ROCK1	18	18550345	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		18550345	59526903	11	35499											
FBXO15	201456	broad.mit.edu	37	chr18	71740801	71740801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatccacaccagctccacGtgcactcttccttccgcatc	5	19	1	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr18:71740801G>A	ENST00000419743.2	-	10	1507	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	FBXO15_ENST00000269500.5_Silent_p.H400H|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	476						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)		CCAGCTCCACGTGCACTCTTC	0.502																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1198-1200)caC>caT		F-box protein 15							262	247	252					18																	71740801		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71740801G>A	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.1428C>T	18.37:g.71740801G>A						FBXO15_ENST00000419743.2_Silent_p.H476H|FBXO15_ENST00000580806.1_5'UTR	p.H400H	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1535	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	400					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1200C>T	CCDS45884.1																																																																																				0.502	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		85	90	0	0	0	1	0	85	90					A	71740801	G	A	71740801	2	1	403	1	0	0	0	0	0	0	0	1	5728	1136	40	1		1	FBXO15	18	71740801	Silent	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08	53190456	71740801	6336447	12	35500											
ZNF581	51545	broad.mit.edu	37	chr19	56156055	56156055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaccttcctcctccatcGgatctccccaggcttcatct	6	18	3	0			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr19:56156055G>A	ENST00000587252.1	+	2	391	c.118G>A	c.(118-120)Gga>Aga	p.G40R	ZNF581_ENST00000270451.5_Missense_Mutation_p.G40R|ZNF581_ENST00000588537.1_Missense_Mutation_p.G40R			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCCTCCATCGGATCTCCCCA	0.612																																						ENST00000587252.1																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(118-120)Gga>Aga		zinc finger protein 581							44	40	41					19																	56156055		2203	4300	6503	SO:0001583	missense	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56156055G>A	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"Zinc fingers, C2H2-type"	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.118G>A	19.37:g.56156055G>A	ENSP00000466047:p.Gly40Arg					ZNF581_ENST00000270451.5_Missense_Mutation_p.G40R|ZNF581_ENST00000588537.1_Missense_Mutation_p.G40R	p.G40R			Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	391	+		Ovarian(87;0.133)	40					B2RDM6	Missense_Mutation	SNP	ENST00000587252.1	37	c.118G>A	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	G	7.637	0.680049	0.14907	.	.	ENSG00000171425	ENST00000270451	T	0.11169	2.8	2.77	2.77	0.32553	.	.	.	.	.	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	0.999993	P	0.42584	0.784	B	0.32393	0.145	T	0.28235	-1.0050	9	0.66056	D	0.02	.	9.2428	0.37506	0.0:0.0:1.0:0.0	.	40	Q9P0T4	ZN581_HUMAN	R	40	ENSP00000270451:G40R	ENSP00000270451:G40R	G	+	1	0	ZNF581	60847867	0.005000	0.15991	0.002000	0.10522	0.203000	0.24098	1.414000	0.34736	1.883000	0.54544	0.462000	0.41574	GGA		0.612	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535		10	4	0	0	0	1	0	10	4					A	56156055	G	A	56156055	3	1	403	1	0	0	0	0	1	0	0	0	18010	1117	39	1	120	1	ZNF581	19	56156055	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		56156055	2972928	13	35501											
CTSA	5476	broad.mit.edu	37	chr20	44523724	44523724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacaacccgtacgtgcGgaaggccctcaacatcccgg	9	17	2	0	rs375345060		TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr20:44523724G>A	ENST00000372459.2	+	10	1233	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	CTSA_ENST00000354880.5_Missense_Mutation_p.R348Q|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Missense_Mutation_p.R365Q|CTSA_ENST00000191018.5_Missense_Mutation_p.R347Q			P10619	PPGB_HUMAN	cathepsin A	347					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCGTACGTGCGGAAGGCCCTC	0.612																																						ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1093-1095)cGg>cAg		cathepsin A			GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	80	65	70		1094,1040,1043	5.2	1	20		70	0,8600		0,0,4300	no	missense,missense,missense	CTSA	NM_000308.2,NM_001127695.1,NM_001167594.1	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	365/499,347/481,348/482	44523724	1,13005	2203	4300	6503	SO:0001583	missense	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44523724G>A	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.1040G>A	20.37:g.44523724G>A	ENSP00000361537:p.Arg347Gln					CTSA_ENST00000354880.5_Missense_Mutation_p.R348Q|CTSA_ENST00000191018.5_Missense_Mutation_p.R347Q|CTSA_ENST00000372459.2_Missense_Mutation_p.R347Q	p.R365Q	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN			11	1376	+		Myeloproliferative disorder(115;0.0122)	347					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	c.1094G>A	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199548	0.94997	2.27E-4	0.0	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.24	5.24	0.73138	.	0.050052	0.85682	D	0.000000	D	0.87795	0.6267	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.99	D;P;P	0.66716	0.946;0.815;0.815	D	0.83939	0.0310	10	0.15499	T	0.54	-28.3395	18.8376	0.92169	0.0:0.0:1.0:0.0	.	347;347;364	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	Q	348;365;347;330	ENSP00000346952:R348Q;ENSP00000361562:R365Q;ENSP00000191018:R347Q;ENSP00000408533:R330Q	ENSP00000191018:R347Q	R	+	2	0	CTSA	43957131	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.839000	0.55835	2.451000	0.82905	0.555000	0.69702	CGG		0.612	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		17	22	0	0	0	1	0	17	22					A	44523724	G	A	44523724	3	1	403	1	0	0	0	0	1	0	0	0	4029	1116	39	1	1136	1	CTSA	20	44523724	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		44523724	18501796	14	35502											
SYCP2	10388	broad.mit.edu	37	chr20	58467639	58467639	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgattcaatgtgtcTcctgacgaagtacttgctct	7	11	4	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr20:58467639T>C	ENST00000357552.3	-	23	2136	c.1911A>G	c.(1909-1911)ggA>ggG	p.G637G	SYCP2_ENST00000371001.2_Silent_p.G637G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	637					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)			TCAATGTGTCTCCTGACGAAG	0.313																																						ENST00000357552.3																			0				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						c.(1909-1911)ggA>ggG		synaptonemal complex protein 2							146	132	137					20																	58467639		2202	4299	6501	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467639T>C	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.1911A>G	20.37:g.58467639T>C						SYCP2_ENST00000371001.2_Silent_p.G637G	p.G637G			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		23	2136	-	all_lung(29;0.00344)		637					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.1911A>G	CCDS13482.1																																																																																				0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		3	38	0	0	0	1	0	3	38					C	58467639	T	C	58467639	2	2	403	1	0	0	0	0	0	0	0	1	15429	1538	54	3		3	SYCP2	20	58467639	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08	13943915	58467639	4557881	15	35503											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768408	31768408	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctcccatcaacatgTcctacaactgctgctctgga	5	15	4	0			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr21:31768408T>C	ENST00000355459.2	+	1	17	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	2						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						CATCAACATGTCCTACAACTG	0.522																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(4-6)Tcc>Ccc		keratin associated protein 13-1							224	193	204					21																	31768408		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768408T>C	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.4T>C	21.37:g.31768408T>C	ENSP00000347635:p.Ser2Pro						p.S2P	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	17	+			2					Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.4T>C	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949986	0.34377	.	.	ENSG00000198390	ENST00000355459	T	0.04156	3.69	4.3	-4.29	0.03721	.	0.588727	0.14005	N	0.347836	T	0.15782	0.0380	M	0.84948	2.725	0.20638	N	0.999874	D	0.76494	0.999	D	0.74674	0.984	T	0.01013	-1.1481	10	0.62326	D	0.03	.	5.5998	0.17347	0.0:0.3908:0.3069:0.3024	.	2	Q8IUC0	KR131_HUMAN	P	2	ENSP00000347635:S2P	ENSP00000347635:S2P	S	+	1	0	KRTAP13-1	30690279	0.483000	0.25956	0.579000	0.28588	0.682000	0.39822	-0.110000	0.10824	-0.797000	0.04450	-1.136000	0.01936	TCC		0.522	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			69	15	0	0	0	1	0	69	15					C	31768408	T	C	31768408	3	2	403	1	0	0	0	0	1	0	0	0	8522	1667	58	3	6	3	KRTAP13-1	21	31768408	Missense_Mutation	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		31768408	16361487	16	35504											
ATRX	546	broad.mit.edu	37	chrX	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C													tgttttccagttctttttttINScccttcttctggctcatcat							TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300	Interaction with DAXX.				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						GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3895-3900)ggaaaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920179_76920180insC	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.3898dupG	X.37:g.76920182_76920182dupC	ENSP00000362441:p.Lys1300fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.GK1261fs|ATRX_ENST00000480283.1_5'UTR	p.GK1299fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4111_4112	-			1299					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3897_3898insG	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		37	7						37	7	---	---	---	---	C	76920180	-	C	76920179	7	5	403	1	0	1	1	0	0	0	0	0	1208	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-R8-A6YH-01A-21D-A32B-08		76920179	78350381	17	35505											
MAGI3	260425	broad.mit.edu	37	chr1	113933961	113933962	+	Frame_Shift_Del	DEL	TG	TG	-													gagcccatccgtctcaagacTgtgaaaccaggtacgccggc							TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:113933961_113933962delTG	ENST00000307546.9	+	1	381_382	c.306_307delTG	c.(304-309)actgtgfs	p.V103fs	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369615.1_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369611.4_Frame_Shift_Del_p.V103fs	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	103	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {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)		GTCTCAAGACTGTGAAACCAGG	0.663																																						ENST00000369615.1																			0				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						c.(304-309)actgfs		membrane associated guanylate kinase, WW and PDZ domain containing 3																																				SO:0001589	frameshift_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:113933961_113933962delTG	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.306_307delTG	1.37:g.113933963_113933964delTG	ENSP00000304604:p.Val103fs					MAGI3_ENST00000369611.4_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000307546.9_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000486456.1_3'UTR	p.TV102fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		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)	1	368_369	+	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)	102			Interaction with ADRB1 and TGFA (By similarity).|PDZ 1.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Frame_Shift_Del	DEL	ENST00000307546.9	37	c.306_307delTG	CCDS44196.1																																																																																				0.663	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		2	4						2	4	---	---	---	---	-	113933962	TG	-	113933961	7	5	404	1	0	1	0	1	0	0	0	0	9192	1567	55	0	308	0	MAGI3	1	113933961	Frame_Shift_Del	DEL	TG	TCGA-R8-A73M-01A-11D-A32B-08		113933961	135316660	1	35506											
F5	2153	broad.mit.edu	37	chr1	169512035	169512035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatctgtgtttgaagaaaCgaattcagtgccattctcca	7	8	3	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:169512035C>T	ENST00000367797.3	-	13	2494	c.2293G>A	c.(2293-2295)Gtt>Att	p.V765I	F5_ENST00000367796.3_Missense_Mutation_p.V770I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	765	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTGAAGAAACGAATTCAGTG	0.393																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2308-2310)Gtt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						173	166	169					1																	169512035		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512035C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2293G>A	1.37:g.169512035C>T	ENSP00000356771:p.Val765Ile					F5_ENST00000367797.3_Missense_Mutation_p.V765I	p.V770I			P12259	FA5_HUMAN			13	2509	-	all_hematologic(923;0.208)		765			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2308G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	0.464	-0.887742	0.02511	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20738	2.05;2.05	5.97	3.65	0.41850	.	0.607939	0.16818	N	0.198276	T	0.00936	0.0031	N	0.00146	-1.995	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	9	0.02654	T	1	-6.384	8.6469	0.34011	0.0:0.2172:0.0:0.7828	.	765	P12259	FA5_HUMAN	I	765;770	ENSP00000356771:V765I;ENSP00000356770:V770I	ENSP00000356770:V770I	V	-	1	0	F5	167778659	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.315000	0.19451	0.496000	0.27904	-0.385000	0.06624	GTT		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		60	94	0	0	0	1	0	60	94					T	169512035	C	T	169512035	3	4	404	1	0	0	0	0	1	0	0	0	5348	536	19	1	4433	1	F5	1	169512035	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	55578074	169512035	79738586	2	35507											
RASAL2	9462	broad.mit.edu	37	chr1	178421757	178421757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactctaactcttattgccaAggtcattcagaacctggcca	7	12	4	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:178421757A>G	ENST00000462775.1	+	9	1660	c.1535A>G	c.(1534-1536)aAg>aGg	p.K512R	RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R|RASAL2_ENST00000448150.3_Missense_Mutation_p.K642R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	512	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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						CTTATTGCCAAGGTCATTCAG	0.418																																						ENST00000448150.3																			0				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						c.(1924-1926)aAg>aGg		RAS protein activator like 2							138	126	130					1																	178421757		2203	4299	6502	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178421757A>G	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.1535A>G	1.37:g.178421757A>G	ENSP00000420558:p.Lys512Arg					RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R|RASAL2_ENST00000462775.1_Missense_Mutation_p.K512R	p.K642R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			11	2743	+			512					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1925A>G	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823543	0.90873	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.90004	-2.6;1.36;-2.6	5.15	5.15	0.70609	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	H	0.97390	3.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;D	0.91635	0.993;0.999;0.982	D	0.97978	1.0347	10	0.87932	D	0	.	14.9905	0.71384	1.0:0.0:0.0:0.0	.	642;512;660	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	R	642;660;512	ENSP00000407768:K642R;ENSP00000356621:K660R;ENSP00000420558:K512R	ENSP00000356621:K660R	K	+	2	0	RASAL2	176688380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	1.929000	0.55896	0.455000	0.32223	AAG		0.418	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		25	57	0	0	0	1	0	25	57					G	178421757	A	G	178421757	3	3	404	1	0	0	0	0	1	0	0	0	13064	72	3	3	2038	3	RASAL2	1	178421757	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	8909722	178421757	70828864	3	35508											
ASTL	431705	broad.mit.edu	37	chr2	96799705	96799705	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgccatgctcactcaccGtacttgctggagagcaggaa	12	13	2	1	rs148110898		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		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						CTCACTCACCGTACTTGCTGG	0.582																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.e4+1		astacin-like metallo-endopeptidase (M12 family)		G		0,4406		0,0,2203	133	88	103		336	-10	0	2	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ASTL	NM_001002036.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		112/432	96799705	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799705G>A	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.337+1C>T	2.37:g.96799705G>A							p.Y112_splice	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			4	335	-			112						Splice_Site	SNP	ENST00000342380.2	37	c.337_splice	CCDS33249.1																																																																																				0.582	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		Silent	12	13	0	0	0	1	0	12	13					A	96799705	G	A	96799705	5	1	404	1	0	0	0	0	0	0	1	0	1063	1159	40	1	982	1	ASTL	2	96799705	Splice_Site	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		96799705	146399668	4	35509											
RANBP2	5903	broad.mit.edu	37	chr2	109370354	109370354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaagaatgcaaaaattAtctgagaaagaccagggact	9	6	1	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:109370354A>G	ENST00000283195.6	+	15	2255	c.2129A>G	c.(2128-2130)tAt>tGt	p.Y710C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	710					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						TGCAAAAATTATCTGAGAAAG	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(2128-2130)tAt>tGt		RAN binding protein 2							102	119	113					2																	109370354		2192	4289	6481	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109370354A>G	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.2129A>G	2.37:g.109370354A>G	ENSP00000283195:p.Tyr710Cys						p.Y710C	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			15	2255	+			710					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2129A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477884	0.44044	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.22134	1.97	5.09	3.93	0.45458	.	.	.	.	.	T	0.13286	0.0322	N	0.19112	0.55	0.26099	N	0.98084	B	0.12630	0.006	B	0.08055	0.003	T	0.21075	-1.0256	9	0.34782	T	0.22	-4.7144	8.3509	0.32301	0.8464:0.0:0.1536:0.0	.	710	P49792	RBP2_HUMAN	C	710	ENSP00000283195:Y710C	ENSP00000283195:Y710C	Y	+	2	0	RANBP2	108736786	0.988000	0.35896	0.998000	0.56505	0.994000	0.84299	2.794000	0.47853	0.889000	0.36185	0.528000	0.53228	TAT		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		76	93	0	0	0	1	0	76	93					G	109370354	A	G	109370354	3	3	404	1	0	0	0	0	1	0	0	0	13028	449	16	3	2187	3	RANBP2	2	109370354	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	12570649	109370354	133829019	5	35510											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	21	0	0	0	1	0	18	21					T	209113112	C	T	209113112	3	4	404	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	99742758	209113112	34086261	6	35511											
MTMR14	64419	broad.mit.edu	37	chr3	9695406	9695406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtggccactatccccgGcacatcgtgttcctggagta	10	13	1	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:9695406G>A	ENST00000296003.4	+	2	383	c.261G>A	c.(259-261)cgG>cgA	p.R87R	MTMR14_ENST00000353332.5_Silent_p.R87R|MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	87					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)					ACTATCCCCGGCACATCGTGT	0.507																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(259-261)cgG>cgA		myotubularin related protein 14							151	149	149					3																	9695406		1999	4188	6187	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9695406G>A	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.261G>A	3.37:g.9695406G>A						MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000353332.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron	p.R87R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			2	383	+	Medulloblastoma(99;0.227)		87					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.261G>A	CCDS43043.1																																																																																				0.507	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		4	98	0	0	0	1	0	4	98					A	9695406	G	A	9695406	2	1	404	1	0	0	0	0	0	0	0	1	9942	1190	42	2		2	MTMR14	3	9695406	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		9695406	188327024	7	35512											
DNAH1	25981	broad.mit.edu	37	chr3	52430944	52430944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcactgatgactgggacCggcgctgcatcatgaacatc	12	11	2	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:52430944C>T	ENST00000420323.2	+	73	11932	c.11671C>T	c.(11671-11673)Cgg>Tgg	p.R3891W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3956	AAA 6. {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)		TGACTGGGACCGGCGCTGCAT	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11671-11673)Cgg>Tgg		dynein, axonemal, heavy chain 1							47	52	50					3																	52430944		1993	4179	6172	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430944C>T	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.11671C>T	3.37:g.52430944C>T	ENSP00000401514:p.Arg3891Trp						p.R3891W	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		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)	73	11932	+			3956			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11671C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741204	0.69304	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.11385	2.78	4.94	4.0	0.46444	.	0.000000	0.64402	D	0.000008	T	0.51295	0.1666	H	0.99182	4.46	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72763	-0.4195	10	0.87932	D	0	.	14.0351	0.64640	0.2428:0.7572:0.0:0.0	.	3891;3956	C9JXH6;Q9P2D7-2	.;.	W	3891;644	ENSP00000401514:R3891W	ENSP00000273600:R644W	R	+	1	2	DNAH1	52405984	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.893000	0.48633	2.291000	0.77112	0.655000	0.94253	CGG		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		17	17	0	0	0	1	0	17	17					T	52430944	C	T	52430944	3	4	404	1	0	0	0	0	1	0	0	0	4597	643	23	1	11957	1	DNAH1	3	52430944	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	42735538	52430944	145591486	8	35513											
DRD3	1814	broad.mit.edu	37	chr3	113847660	113847660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcacgtagcccagccatGtcgtggcactgtaaagctct	9	12	2	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:113847660G>A	ENST00000460779.1	-	8	1395	c.1106C>T	c.(1105-1107)aCa>aTa	p.T369I	DRD3_ENST00000383673.2_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I|DRD3_ENST00000467632.1_Missense_Mutation_p.T369I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	369					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)	GCCCAGCCATGTCGTGGCACT	0.542																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(1105-1107)aCa>aTa		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						275	259	265					3																	113847660		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847660G>A		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.1106C>T	3.37:g.113847660G>A	ENSP00000419402:p.Thr369Ile					DRD3_ENST00000467632.1_Missense_Mutation_p.T369I|DRD3_ENST00000460779.1_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I	p.T369I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			7	1536	-			369					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.1106C>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703358	0.88924	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.123892	0.52532	D	0.000070	T	0.72277	0.3440	M	0.69185	2.1	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.887	D;D;D;P	0.97110	1.0;1.0;1.0;0.823	T	0.71984	-0.4427	10	0.52906	T	0.07	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	369;369;369;336	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	369;369;369;336	ENSP00000419402:T369I;ENSP00000420662:T369I;ENSP00000373169:T369I;ENSP00000295881:T336I	ENSP00000295881:T336I	T	-	2	0	DRD3	115330350	1.000000	0.71417	0.694000	0.30210	0.917000	0.54804	9.657000	0.98554	2.788000	0.95919	0.585000	0.79938	ACA		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		93	143	0	0	0	1	0	93	143					A	113847660	G	A	113847660	3	1	404	1	0	0	0	0	1	0	0	0	4758	1377	48	2	100	2	DRD3	3	113847660	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	61416716	113847660	84174770	9	35514											
CCRL1	51554	broad.mit.edu	37	chr3	132319326	132319326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactacagtcaatatgaaCtgatctgtatcaaagaagat	7	6	3	5			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)								c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58	58	58					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T						ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	181	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		4	23	0	0	0	1	0	4	23					T	132319326	C	T	132319326	2	4	404	1	0	0	0	0	0	0	0	1	2949	564	20	2		2	CCRL1	3	132319326	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	18471666	132319326	65703104	10	35515											
CDYL	9425	broad.mit.edu	37	chr6	4937890	4937890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggcagcgtcttctgttGtggacttgactttatttatt	10	7	2	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:4937890G>A	ENST00000328908.5	+	6	1333	c.1202G>A	c.(1201-1203)tGt>tAt	p.C401Y	CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	401					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTCTTCTGTTGTGGACTTGAC	0.458																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(1201-1203)tGt>tAt		chromodomain protein, Y-like							101	97	98					6																	4937890		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4937890G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1202G>A	6.37:g.4937890G>A	ENSP00000330512:p.Cys401Tyr					CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR	p.C401Y			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	6	1333	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	401					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1202G>A		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683776	0.68157	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T;T	0.66815	0.99;-0.23;0.99;0.99;0.99	5.4	5.4	0.78164	Crotonase, core (1);	0.047757	0.85682	D	0.000000	T	0.54431	0.1858	L	0.38531	1.155	0.80722	D	1	B;P	0.39071	0.318;0.658	B;B	0.41813	0.185;0.367	T	0.62286	-0.6886	10	0.66056	D	0.02	.	18.5273	0.90976	0.0:0.0:1.0:0.0	.	347;401	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	Y	401;127;347;215;215	ENSP00000330512:C401Y;ENSP00000394740:C127Y;ENSP00000380718:C347Y;ENSP00000394076:C215Y;ENSP00000340908:C215Y	ENSP00000330512:C401Y	C	+	2	0	CDYL	4882889	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	5.042000	0.64202	2.684000	0.91462	0.585000	0.79938	TGT		0.458	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		10	58	0	0	0	1	0	10	58					A	4937890	G	A	4937890	3	1	404	1	0	0	0	0	1	0	0	0	3185	1377	48	2	1054	2	CDYL	6	4937890	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		4937890	166177177	11	35516											
TDRD6	221400	broad.mit.edu	37	chr6	46660172	46660172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattctaagaaaatgatgcAttacttttcccaacggacca	5	9	1	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:46660172A>G	ENST00000316081.6	+	1	4307	c.4307A>G	c.(4306-4308)cAt>cGt	p.H1436R	TDRD6_ENST00000544460.1_Missense_Mutation_p.H1436R	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1436					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)			AAAATGATGCATTACTTTTCC	0.398																																						ENST00000544460.1																			0				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						c.(4306-4308)cAt>cGt		tudor domain containing 6							134	139	137					6																	46660172		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660172A>G	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.4307A>G	6.37:g.46660172A>G	ENSP00000346065:p.His1436Arg					TDRD6_ENST00000316081.6_Missense_Mutation_p.H1436R	p.H1436R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4561	+			1436					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4307A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.636	-0.815229	0.02776	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.13538	2.58;2.58	5.77	-5.74	0.02391	.	1.895430	0.01914	N	0.040060	T	0.02342	0.0072	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.39313	-0.9620	10	0.15499	T	0.54	0.0167	0.9014	0.01275	0.2213:0.2569:0.3046:0.2172	.	1436;1436	F5H5M3;O60522	.;TDRD6_HUMAN	R	1436	ENSP00000443299:H1436R;ENSP00000346065:H1436R	ENSP00000346065:H1436R	H	+	2	0	TDRD6	46768131	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.011000	0.13264	-0.462000	0.06984	0.533000	0.62120	CAT		0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		10	171	0	0	0	1	0	10	171					G	46660172	A	G	46660172	3	3	404	1	0	0	0	0	1	0	0	0	15731	217	8	3	4309	3	TDRD6	6	46660172	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	41722282	46660172	124454895	12	35517											
TFAP2D	83741	broad.mit.edu	37	chr6	50740356	50740356	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcacttctcatttccAgtttgatcactcatggcttt	4	12	4	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:50740356A>G	ENST00000008391.3	+	8	1367		c.e8-1			NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCATTTCCAGTTTGATCAC	0.378																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.e8-1		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							44	45	45					6																	50740356		2203	4300	6503	SO:0001630	splice_region_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740356A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1140-1A>G	6.37:g.50740356A>G								NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1367	+	Lung NSC(77;0.0334)								Splice_Site	SNP	ENST00000008391.3	37		CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820318	0.71028	.	.	ENSG00000008197	ENST00000008391	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5329	0.75977	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TFAP2D	50848315	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.962000	0.93254	2.083000	0.62718	0.383000	0.25322	.		0.378	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	Intron	4	34	0	0	0	1	0	4	34					G	50740356	A	G	50740356	5	3	404	1	0	0	0	0	0	0	1	0	15787	202	7	3	1168	3	TFAP2D	6	50740356	Splice_Site	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	4080184	50740356	120374711	13	35518											
SEMA3A	10371	broad.mit.edu	37	chr7	83739852	83739852	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgttccacaggcgtaCaagtgagtctgattatatgc	10	12	1	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr7:83739852C>T	ENST00000265362.4	-	4	701	c.387G>A	c.(385-387)ttG>ttA	p.L129L	SEMA3A_ENST00000436949.1_Silent_p.L129L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	129	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						CACAGGCGTACAAGTGAGTCT	0.383																																						ENST00000265362.3																			0				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						c.(385-387)ttG>ttA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							129	119	122					7																	83739852		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83739852C>T	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.387G>A	7.37:g.83739852C>T						SEMA3A_ENST00000436949.1_Silent_p.L129L	p.L129L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			4	701	-			129			Sema.			Silent	SNP	ENST00000265362.4	37	c.387G>A	CCDS5599.1																																																																																				0.383	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		13	87	0	0	0	1	0	13	87					T	83739852	C	T	83739852	2	4	404	1	0	0	0	0	0	0	0	1	14024	477	17	2		2	SEMA3A	7	83739852	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		83739852	75398811	14	35519											
FLJ46321	389763	broad.mit.edu	37	chr9	84607526	84607526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtctctgtcattgctacGtcctcagagcaaaatttcag	8	10	4	2	rs374174863		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:84607526G>A	ENST00000344803.2	+	4	2188	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	714					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATTGCTACGTCCTCAGAGC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19681	0.0		0.001	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(2140-2142)cGt>cAt		SPATA31 subfamily D, member 1		G	HIS/ARG	0,3678		0,0,1839	49	47	47		2141	-5.9	0	9		47	2,8170		0,2,4084	no	missense	FAM75D1	NM_001001670.2	29	0,2,5923	AA,AG,GG		0.0245,0.0,0.0169	probably-damaging	714/1577	84607526	2,11848	1839	4086	5925	SO:0001583	missense	389763							g.chr9:84607526G>A		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.2141G>A	9.37:g.84607526G>A	ENSP00000341988:p.Arg714His						p.R714H	NM_001001670.2	NP_001001670.1					4	2188	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2141G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481636	0.12581	0.0	2.45E-4	ENSG00000214929	ENST00000344803	T	0.06687	3.27	2.98	-5.95	0.02241	.	3.627900	0.00582	N	0.000334	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	P	0.46952	0.887	B	0.37550	0.253	T	0.37079	-0.9721	10	0.12766	T	0.61	-0.0576	4.1049	0.10032	0.3166:0.0:0.3875:0.2959	.	714	Q6ZQQ2	F75D1_HUMAN	H	714	ENSP00000341988:R714H	ENSP00000341988:R714H	R	+	2	0	FAM75D1	83797346	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.903000	0.04084	-2.006000	0.00958	-0.459000	0.05422	CGT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		23	25	0	0	0	1	0	23	25					A	84607526	G	A	84607526	3	1	404	1	0	0	0	0	1	0	0	0	5932	1145	40	1	2155	1	FLJ46321	9	84607526	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		84607526	56605905	15	35520											
C9orf3	84909	broad.mit.edu	37	chr9	97843039	97843039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaagcctacaaaagtgtgGagaggttccttcaggaggat	13	7	1	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:97843039G>A	ENST00000375315.2	+	14	2296	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K|C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	766					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)		CAAAAGTGTGGAGAGGTTCCT	0.502																																						ENST00000375315.2																			0				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						c.(2296-2298)Gag>Aag		chromosome 9 open reading frame 3							160	140	147					9																	97843039		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97843039G>A	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.2296G>A	9.37:g.97843039G>A	ENSP00000364464:p.Glu766Lys					C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K	p.E766K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2296	+			766					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2296G>A	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.941|4.941	0.174736|0.174736	0.09391|0.09391	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94|.	5.57|5.57	4.66|4.66	0.58398|0.58398	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.050890|.	0.85682|.	N|.	0.000000|.	T|T	0.68997|0.68997	0.3062|0.3062	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	P;P;B;B;B|.	0.39443|.	0.536;0.674;0.053;0.197;0.22|.	B;B;B;B;B|.	0.40375|.	0.191;0.327;0.083;0.188;0.135|.	T|T	0.67522|0.67522	-0.5649|-0.5649	10|5	0.06099|.	T|.	0.92|.	-10.9902|-10.9902	14.8209|14.8209	0.70070|0.70070	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	107;128;766;667;667|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	K|E	667;766;490;548;128;107;130|130	ENSP00000297979:E667K;ENSP00000364464:E766K;ENSP00000402171:E490K;ENSP00000401854:E548K;ENSP00000411815:E128K;ENSP00000399365:E107K|.	ENSP00000297979:E667K|.	E|G	+|+	1|2	0|0	C9orf3|C9orf3	96882860|96882860	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.078000|0.078000	0.17371|0.17371	4.382000|4.382000	0.59594|0.59594	1.315000|1.315000	0.45114|0.45114	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		12	41	0	0	0	1	0	12	41					A	97843039	G	A	97843039	3	1	404	1	0	0	0	0	1	0	0	0	2477	1175	41	2	2045	2	C9orf3	9	97843039	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	13235513	97843039	43370392	16	35521											
FKBP15	23307	broad.mit.edu	37	chr9	115945062	115945062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttctcttgttcagcaTgcaatactcttgcctgtgtg	7	11	3	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:115945062T>C	ENST00000238256.3	-	19	2015	c.1898A>G	c.(1897-1899)cAt>cGt	p.H633R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	633					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGTTCAGCATGCAATACTCT	0.463																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(1897-1899)cAt>cGt		FK506 binding protein 15, 133kDa							327	310	315					9																	115945062		1965	4160	6125	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115945062T>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1898A>G	9.37:g.115945062T>C	ENSP00000238256:p.His633Arg						p.H633R	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			19	2015	-			633					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.1898A>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.249776	0.80024	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.23552	1.9;1.9	5.33	5.33	0.75918	.	.	.	.	.	T	0.45895	0.1365	M	0.64997	1.995	0.39750	D	0.971875	D;P	0.76494	0.999;0.932	D;P	0.66351	0.943;0.55	T	0.48399	-0.9039	9	0.59425	D	0.04	-13.9099	13.257	0.60085	0.0:0.0:0.0:1.0	.	214;633	B4DVS2;Q5T1M5	.;FKB15_HUMAN	R	658;633	ENSP00000416158:H658R;ENSP00000238256:H633R	ENSP00000238256:H633R	H	-	2	0	FKBP15	114984883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.776000	0.75023	2.023000	0.59567	0.459000	0.35465	CAT		0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		81	119	0	0	0	1	0	81	119					C	115945062	T	C	115945062	3	2	404	1	0	0	0	0	1	0	0	0	5905	1464	51	3	1801	3	FKBP15	9	115945062	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	18102023	115945062	25268369	17	35522											
TNC	3371	broad.mit.edu	37	chr9	117786329	117786329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagaaagcccctttgtAggacagagcacagttggtga	12	9	0	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:117786329A>G	ENST00000350763.4	-	27	6829	c.6418T>C	c.(6418-6420)Tac>Cac	p.Y2140H	TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H|TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2140	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.			YKGA -> TRG (in Ref. 2; CAA39628). {ECO:0000305}.	bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCCCTTTGTAGGACAGAGCA	0.537																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6418-6420)Tac>Cac		tenascin C							194	162	173					9																	117786329		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117786329A>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6418T>C	9.37:g.117786329A>G	ENSP00000265131:p.Tyr2140His					TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H|TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H	p.Y2140H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			27	6829	-			2140	YKGA -> TRG (in Ref. 2; CAA39628).		Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6418T>C	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795341	0.90453	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.43	5.43	0.79202	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.37800	1.135	0.41839	D	0.990118	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.06215	-1.0839	10	0.39692	T	0.17	.	15.757	0.78043	1.0:0.0:0.0:0.0	.	1867;2140	E9PC84;P24821	.;TENA_HUMAN	H	1776;1685;1594;1503;2140;1958;1867;1503;1777	ENSP00000344400:Y1776H;ENSP00000438152:Y1685H;ENSP00000344555:Y1594H;ENSP00000345861:Y1503H;ENSP00000265131:Y2140H;ENSP00000339553:Y1958H;ENSP00000411406:Y1867H;ENSP00000443478:Y1503H;ENSP00000442242:Y1777H	ENSP00000344400:Y1776H	Y	-	1	0	TNC	116826150	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.243000	0.95416	2.183000	0.69458	0.460000	0.39030	TAC		0.537	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		3	75	0	0	0	1	0	3	75					G	117786329	A	G	117786329	3	3	404	1	0	0	0	0	1	0	0	0	16267	420	15	3	195	3	TNC	9	117786329	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	1841267	117786329	23427102	18	35523											
MUC2	4583	broad.mit.edu	37	chr11	1093740	1093740	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccacatccaatcctccGcctgagtcctcaacccctca	4	19	2	2	rs575179256		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:1093740G>C	ENST00000441003.2	+	30	5586	c.5559G>C	c.(5557-5559)ccG>ccC	p.P1853P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.P141P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4215					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)	CCAATCCTCCGCCTGAGTCCT	0.602																																						ENST00000441003.2																			0				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						c.(5557-5559)ccG>ccC		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						267	317	300					11																	1093740		2144	4225	6369	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093740G>C	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.5559G>C	11.37:g.1093740G>C						MUC2_ENST00000333592.6_Silent_p.P141P|MUC2_ENST00000361558.6_Intron	p.P1853P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5586	+		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)	1856					Q14878	Silent	SNP	ENST00000441003.2	37	c.5559G>C																																																																																					0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		58	121	0	0	0	1	0	58	121					C	1093740	G	C	1093740	2	2	404	1	0	0	0	0	0	0	0	1	9975	1074	38	4		4	MUC2	11	1093740	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		1093740	133912776	19	35524											
ABCC8	6833	broad.mit.edu	37	chr11	17429999	17429999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctcaaagagctggcaTtcagacctctggaagtcctt	10	11	3	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:17429999T>A	ENST00000389817.3	-	23	2828	c.2760A>T	c.(2758-2760)gaA>gaT	p.E920D	ABCC8_ENST00000302539.4_Missense_Mutation_p.E921D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	920	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|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 ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGAGCTGGCATTCAGACCTCT	0.557																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2761-2763)gaA>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						114	106	109					11																	17429999		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17429999T>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2760A>T	11.37:g.17429999T>A	ENSP00000374467:p.Glu920Asp					ABCC8_ENST00000389817.3_Missense_Mutation_p.E920D	p.E921D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	23	2888	-			920			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2763A>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	5.719	0.317167	0.10845	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90069	-2.61;-2.61	6.04	4.19	0.49359	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	N	0.19112	0.55	0.53005	D	0.999961	B	0.02656	0.0	B	0.06405	0.002	T	0.65726	-0.6098	10	0.02654	T	1	.	9.6761	0.40041	0.0:0.7876:0.0:0.2124	.	920	Q09428	ABCC8_HUMAN	D	920;921;924	ENSP00000374467:E920D;ENSP00000303960:E921D	ENSP00000303960:E921D	E	-	3	2	ABCC8	17386575	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.809000	0.27168	0.895000	0.36342	-0.251000	0.11542	GAA		0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		15	43	0	0	0	1	0	15	43					A	17429999	T	A	17429999	3	1	404	1	0	0	0	0	1	0	0	0	58	1490	52	5	2053	5	ABCC8	11	17429999	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	16336259	17429999	117576517	20	35525											
MAP3K12	7786	broad.mit.edu	37	chr12	53880246	53880246	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgatgatgttggggtgCttcagctttcgcaagtgctt	13	6	1	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:53880246C>G	ENST00000267079.2	-	4	732	c.507G>C	c.(505-507)aaG>aaC	p.K169N	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGTTGGGGTGCTTCAGCTTTC	0.582																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(505-507)aaG>aaC		mitogen-activated protein kinase kinase kinase 12							154	113	127					12																	53880246		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880246C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.507G>C	12.37:g.53880246C>G	ENSP00000267079:p.Lys169Asn					MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR	p.K169N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			4	732	-			169			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.507G>C	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755488	0.31046	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.88818	-2.43;-2.43;-2.43	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000201	T	0.78078	0.4227	N	0.11000	0.08	0.54753	D	0.999989	B;B	0.23316	0.067;0.083	B;B	0.30943	0.074;0.122	T	0.72014	-0.4418	10	0.27082	T	0.32	.	8.6243	0.33879	0.0:0.8353:0.0:0.1647	.	202;169	G3V1Y2;Q12852	.;M3K12_HUMAN	N	169;202;202	ENSP00000267079:K169N;ENSP00000449038:K202N;ENSP00000448689:K202N	ENSP00000267079:K169N	K	-	3	2	MAP3K12	52166513	0.929000	0.31497	1.000000	0.80357	0.996000	0.88848	0.123000	0.15708	2.688000	0.91661	0.561000	0.74099	AAG		0.582	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		12	41	0	0	0	1	0	12	41					G	53880246	C	G	53880246	3	3	404	1	0	0	0	0	1	0	0	0	9246	796	28	4	2120	4	MAP3K12	12	53880246	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		53880246	79971649	21	35526											
OAS3	4940	broad.mit.edu	37	chr12	113400550	113400550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctttgcctgggagcagGgctgcaggcaggattgtttc	14	10	1	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:113400550G>A	ENST00000228928.7	+	9	2106	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	643	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						CTGGGAGCAGGGCTGCAGGCA	0.597																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1927-1929)Ggc>Agc		2'-5'-oligoadenylate synthetase 3, 100kDa							116	124	121					12																	113400550		2030	4203	6233	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113400550G>A	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.1927G>A	12.37:g.113400550G>A	ENSP00000228928:p.Gly643Ser					RP1-71H24.1_ENST00000552784.1_RNA	p.G643S	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			9	2106	+			643			OAS domain 2.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1927G>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252876	0.80135	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.51817	0.69	4.1	4.1	0.47936	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.69223	0.3087	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74731	-0.3566	9	0.87932	D	0	.	11.6495	0.51279	0.0:0.0:1.0:0.0	.	643	Q9Y6K5	OAS3_HUMAN	S	643;642	ENSP00000228928:G643S	ENSP00000228928:G643S	G	+	1	0	OAS3	111884933	0.740000	0.28207	1.000000	0.80357	0.891000	0.51852	3.346000	0.52190	2.113000	0.64589	0.655000	0.94253	GGC		0.597	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			15	98	0	0	0	1	0	15	98					A	113400550	G	A	113400550	3	1	404	1	0	0	0	0	1	0	0	0	10801	1232	43	2	1961	2	OAS3	12	113400550	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	59520304	113400550	20451345	22	35527											
CDK8	1024	broad.mit.edu	37	chr13	26967554	26967554	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactactaacgtcagaaccaAtatttcactgtcgacaagag	6	10	2	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:26967554A>G	ENST00000381527.3	+	7	1200	c.697A>G	c.(697-699)Ata>Gta	p.I233V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTCAGAACCAATATTTCACTG	0.343																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(697-699)Ata>Gta		cyclin-dependent kinase 8							167	159	162					13																	26967554		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26967554A>G	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.697A>G	13.37:g.26967554A>G	ENSP00000370938:p.Ile233Val					CDK8_ENST00000536792.1_3'UTR	p.I233V	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	7	1200	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	233			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.697A>G	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142222	0.57044	.	.	ENSG00000132964	ENST00000381527	T	0.64991	-0.13	5.32	5.32	0.75619	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	0.58438	0.2122	L	0.37750	1.13	0.80722	D	1	B;B	0.26483	0.124;0.15	B;B	0.34931	0.121;0.192	T	0.59537	-0.7436	10	0.56958	D	0.05	-16.1545	15.5584	0.76219	1.0:0.0:0.0:0.0	.	233;233	P49336-2;P49336	.;CDK8_HUMAN	V	233	ENSP00000370938:I233V	ENSP00000370938:I233V	I	+	1	0	CDK8	25865554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.122000	0.65172	0.528000	0.53228	ATA		0.343	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			7	138	0	0	0	1	0	7	138					G	26967554	A	G	26967554	3	3	404	1	0	0	0	0	1	0	0	0	3150	101	4	3	723	3	CDK8	13	26967554	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08		26967554	88202324	23	35528											
POSTN	10631	broad.mit.edu	37	chr13	38143490	38143490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaataaatgaccatcaccaCcttcaatgaatttggtgacc	5	11	2	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:38143490C>A	ENST00000379747.4	-	21	2495	c.2378G>T	c.(2377-2379)gGt>gTt	p.G793V	POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	793					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.G793D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCATCACCACCTTCAATGAA	0.363																																						ENST00000379747.4																			1	Substitution - Missense(1)	p.G793D(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2377-2379)gGt>gTt		periostin, osteoblast specific factor							110	104	106					13																	38143490		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38143490C>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2378G>T	13.37:g.38143490C>A	ENSP00000369071:p.Gly793Val					POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V	p.G793V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	21	2495	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	793					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2378G>T	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945623	0.73672	.	.	ENSG00000133110	ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D	0.95412	-2.99;-3.7;-3.64;-3.64	5.59	5.59	0.84812	.	0.078682	0.51477	D	0.000088	D	0.96806	0.8957	L	0.51422	1.61	0.45035	D	0.998056	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;0.998;1.0	D	0.96383	0.9283	10	0.42905	T	0.14	.	17.7603	0.88462	0.0:1.0:0.0:0.0	.	706;766;736;793	F5H628;B1ALD8;Q15063-2;Q15063	.;.;.;POSTN_HUMAN	V	793;766;736;706	ENSP00000369071:G793V;ENSP00000369067:G766V;ENSP00000369066:G736V;ENSP00000437953:G706V	ENSP00000369066:G736V	G	-	2	0	POSTN	37041490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.089000	0.57685	2.612000	0.88384	0.650000	0.86243	GGT		0.363	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		22	47	1	0	0.000295444	1	0.000295444	22	47					A	38143490	C	A	38143490	3	1	404	1	0	0	0	0	1	0	0	0	12259	507	18	4	144	4	POSTN	13	38143490	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	11175936	38143490	77026388	24	35529											
OR4E2	26686	broad.mit.edu	37	chr14	22134124	22134124	+	Frame_Shift_Del	DEL	A	A	-													gtggtgtctgtcttctacacAgtggtcacccctttgctgaa							TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr14:22134124delA	ENST00000408935.1	+	1	828	c.828delA	c.(826-828)acafs	p.T276fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	276						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)		TCTTCTACACAGTGGTCACCC	0.473																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(826-828)acfs		olfactory receptor, family 4, subfamily E, member 2							66	63	64					14																	22134124		1965	4164	6129	SO:0001589	frameshift_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134124delA		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.828delA	14.37:g.22134124delA	ENSP00000386195:p.Thr276fs						p.T276fs	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	828	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	276					Q6IET6|Q96R62	Frame_Shift_Del	DEL	ENST00000408935.1	37	c.828delA	CCDS41916.1																																																																																				0.473	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			17	23						17	23	---	---	---	---	-	22134124	A	-	22134124	7	5	404	1	0	1	0	1	0	0	0	0	11060	175	7	0	830	0	OR4E2	14	22134124	Frame_Shift_Del	DEL	A	TCGA-R8-A73M-01A-11D-A32B-08		22134124	85215416	25	35530											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				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						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	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.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	240	0	0	0	1	0	4	240					T	3293588	C	T	3293588	2	4	404	1	0	0	0	0	0	0	0	1	9459	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		3293588	87061165	26	35531											
USP7	7874	broad.mit.edu	37	chr16	9014244	9014244	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atggggagcatccgcctgtaCaaagacttcaaaggtaactt	10	9	1	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:9014244C>G	ENST00000344836.4	-	5	781	c.583G>C	c.(583-585)Gta>Cta	p.V195L	USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	195	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCGCCTGTACAAAGACTTCA	0.378																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(583-585)Gta>Cta		ubiquitin specific peptidase 7 (herpes virus-associated)							100	98	99					16																	9014244		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9014244C>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.583G>C	16.37:g.9014244C>G	ENSP00000343535:p.Val195Leu					USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L	p.V195L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			5	781	-			195			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.583G>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348960	0.82132	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.70516	-0.49;-0.49;-0.49	5.63	5.63	0.86233	TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	L	0.61387	1.9	0.80722	D	1	B;B	0.31054	0.306;0.137	B;B	0.40602	0.334;0.156	T	0.74760	-0.3556	10	0.52906	T	0.07	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	195;179	Q93009;B7Z815	UBP7_HUMAN;.	L	195;203;96;96;137	ENSP00000343535:V195L;ENSP00000443646:V96L;ENSP00000439272:V137L	ENSP00000343535:V195L	V	-	1	0	USP7	8921745	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.726000	0.84824	2.659000	0.90383	0.655000	0.94253	GTA		0.378	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			25	38	0	0	0	1	0	25	38					G	9014244	C	G	9014244	3	3	404	1	0	0	0	0	1	0	0	0	17085	478	17	4	2833	4	USP7	16	9014244	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	5720656	9014244	81340509	27	35532											
GSG2	83903	broad.mit.edu	37	chr17	3628342	3628342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcgttccccacccaggaCctgactcctttacagaatgt	7	14	0	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:3628342C>A	ENST00000325418.4	+	1	1132	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	371					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)										CCACCCAGGACCTGACTCCTT	0.488																																						ENST00000325418.4																			0											c.(1111-1113)gaC>gaA		germ cell associated 2 (haspin)							72	72	72					17																	3628342		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628342C>A	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.1113C>A	17.37:g.3628342C>A	ENSP00000325290:p.Asp371Glu					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.D371E	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1132	+			371					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1113C>A	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149658	0.37923	.	.	ENSG00000177602	ENST00000325418	T	0.07800	3.16	4.75	2.74	0.32292	.	0.298967	0.23021	N	0.052846	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	P	0.40970	0.734	B	0.37731	0.257	T	0.26503	-1.0101	10	0.87932	D	0	-33.869	8.4812	0.33043	0.0:0.7381:0.0:0.2619	.	371	Q8TF76	HASP_HUMAN	E	371	ENSP00000325290:D371E	ENSP00000325290:D371E	D	+	3	2	GSG2	3575091	0.748000	0.28294	0.722000	0.30670	0.039000	0.13416	0.888000	0.28268	0.676000	0.31285	0.655000	0.94253	GAC		0.488	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		18	30	1	0	2.4624e-09	1	2.565e-09	18	30					A	3628342	C	A	3628342	3	1	404	1	0	0	0	0	1	0	0	0	6822	506	18	4	1115	4	GSG2	17	3628342	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		3628342	77566868	28	35533											
CD68	968	broad.mit.edu	37	chr17	7484227	7484227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccagagtggacattctcGgctcagaatgcatcccttcg	9	14	2	2	rs149306377		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:7484227G>A	ENST00000250092.6	+	5	985	c.774G>A	c.(772-774)tcG>tcA	p.S258S	AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000396501.4_5'Flank|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000582151.1_5'Flank|MPDU1_ENST00000250124.6_5'Flank|MPDU1_ENST00000423172.2_5'Flank|CD68_ENST00000380498.6_Silent_p.S231S|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	258					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GGACATTCTCGGCTCAGAATG	0.562																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(772-774)tcG>tcA		CD68 molecule		G	,	0,4406		0,0,2203	92	81	85		693,774	-10.3	0	17	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous	CD68	NM_001040059.1,NM_001251.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	231/328,258/355	7484227	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484227G>A	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"CD molecules"	1693	protein-coding gene	gene with protein product	"scavenger receptor class D, member 1", "CD68 antigen", "macrophage antigen CD68"	153634	"CD68 antigen"			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.774G>A	17.37:g.7484227G>A						CD68_ENST00000380498.6_Silent_p.S231S	p.S258S	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			5	985	+			258					B4DVT4|Q53HR6|Q53XI3|Q96BI7	Silent	SNP	ENST00000250092.6	37	c.774G>A	CCDS11114.1																																																																																				0.562	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		9	43	0	0	0	1	0	9	43					A	7484227	G	A	7484227	2	1	404	1	0	0	0	0	0	0	0	1	3030	1103	39	1		1	CD68	17	7484227	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	3855885	7484227	73710983	29	35534											
INSR	3643	broad.mit.edu	37	chr19	7132266	7132266	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagttccccggtgacagCccacgcagcctgcagccccg	11	18	0	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:7132266C>A	ENST00000302850.5	-	14	2887	c.2745G>T	c.(2743-2745)ggG>ggT	p.G915G	INSR_ENST00000341500.5_Silent_p.G903G	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	915	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCGGTGACAGCCCACGCAGCC	0.617																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(2707-2709)ggG>ggT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						61	47	52					19																	7132266		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7132266C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2745G>T	19.37:g.7132266C>A						INSR_ENST00000302850.5_Silent_p.G915G	p.G903G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			13	2748	-			915			Fibronectin type-III 3.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.2709G>T	CCDS12176.1																																																																																				0.617	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	18	1	0	4.3838e-07	1	4.47327e-07	13	18					A	7132266	C	A	7132266	2	1	404	1	0	0	0	0	0	0	0	1	7773	726	26	4		4	INSR	19	7132266	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		7132266	51996717	30	35535											
CIC	23152	broad.mit.edu	37	chr19	42791836	42791836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagtggtggtatgcccTggggcccaaggagaagcaga	19	8	0	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:42791836T>C	ENST00000575354.2	+	5	762	c.722T>C	c.(721-723)cTg>cCg	p.L241P	CIC_ENST00000572681.2_Missense_Mutation_p.L1150P|CIC_ENST00000160740.3_Missense_Mutation_p.L241P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	241					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)				TGGTATGCCCTGGGGCCCAAG	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3448-3450)cTg>cCg		capicua transcriptional repressor							80	73	76					19																	42791836		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791836T>C	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.722T>C	19.37:g.42791836T>C	ENSP00000458663:p.Leu241Pro					CIC_ENST00000160740.3_Missense_Mutation_p.L241P|CIC_ENST00000575354.2_Missense_Mutation_p.L241P	p.L1150P			Q96RK0	CIC_HUMAN			6	3517	+		Prostate(69;0.00682)	241			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3449T>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577304	0.45902	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88194	0.6371	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91613	0.5304	8	0.87932	D	0	-8.6411	11.626	0.51145	0.0:0.0:0.0:1.0	.	241	Q96RK0	CIC_HUMAN	P	241	.	ENSP00000160740:L241P	L	+	2	0	CIC	47483676	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.560000	0.82277	1.853000	0.53794	0.454000	0.30748	CTG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	7	0	0	0	1	0	15	7					C	42791836	T	C	42791836	3	2	404	1	0	0	0	0	1	0	0	0	3424	1580	55	3	740	3	CIC	19	42791836	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	35659570	42791836	16337147	31	35536											
CHD6	84181	broad.mit.edu	37	chr20	40102094	40102094	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgaatctggcttacagaaCcggtcgatggctgcctggcg	13	11	2	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr20:40102094C>G	ENST00000373233.3	-	17	2709	c.2532G>C	c.(2530-2532)cgG>cgC	p.R844R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	844	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				GCTTACAGAACCGGTCGATGG	0.537																																						ENST00000373233.3																			0				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						c.(2530-2532)cgG>cgC		chromodomain helicase DNA binding protein 6							107	99	102					20																	40102094		2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40102094C>G	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.2532G>C	20.37:g.40102094C>G						CHD6_ENST00000309279.7_Intron	p.R844R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			17	2709	-		Myeloproliferative disorder(115;0.00425)	844			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.2532G>C	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	46	0	0	0	1	0	4	46					G	40102094	C	G	40102094	2	3	404	1	0	0	0	0	0	0	0	1	3329	494	18	4		4	CHD6	20	40102094	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		40102094	22923426	32	35537											
CACNA1F	778	broad.mit.edu	37	chrX	49071867	49071867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggaaagtgatgatgaCgaagcccacgaagatgttca	13	8	1	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49071867C>T	ENST00000376265.2	-	28	3467	c.3406G>A	c.(3406-3408)Gtc>Atc	p.V1136I	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1136	Dihydropyridine binding. {ECO:0000250}.				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)	GTGATGATGACGAAGCCCACG	0.502																																						ENST00000376265.2																			0				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						c.(3406-3408)Gtc>Atc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						158	111	127					X																	49071867		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071867C>T	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.3406G>A	X.37:g.49071867C>T	ENSP00000365441:p.Val1136Ile					CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I	p.V1136I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3467	-			1136			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3406G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520418	0.64747	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97924	-4.61;-4.61;-4.61	5.3	5.3	0.74995	Ion transport (1);	0.139951	0.48286	D	0.000194	D	0.98295	0.9435	M	0.75615	2.305	0.45046	D	0.998067	P;D	0.71674	0.725;0.998	B;D	0.65140	0.073;0.932	D	0.98323	1.0529	10	0.31617	T	0.26	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	1125;1136	F5CIQ9;O60840	.;CAC1F_HUMAN	I	1071;1125;1136	ENSP00000365427:V1071I;ENSP00000321618:V1125I;ENSP00000365441:V1136I	ENSP00000321618:V1125I	V	-	1	0	CACNA1F	48958811	1.000000	0.71417	0.958000	0.39756	0.871000	0.50021	6.033000	0.70925	2.187000	0.69744	0.600000	0.82982	GTC		0.502	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		7	16	0	0	0	1	0	7	16					T	49071867	C	T	49071867	3	4	404	1	0	0	0	0	1	0	0	0	2543	536	19	1	2611	1	CACNA1F	23	49071867	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		49071867	106198693	33	35538											
PAGE1	8712	broad.mit.edu	37	chrX	49459349	49459349	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcattggtctacgccgatAgattaatcttcttagaaaac	7	8	4	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49459349A>T	ENST00000376150.3	-	2	157	c.25T>A	c.(25-27)Tat>Aat	p.Y9N		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	9					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTACGCCGATAGATTAATCTT	0.373																																						ENST00000376150.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(25-27)Tat>Aat		P antigen family, member 1 (prostate associated)							76	63	68					X																	49459349		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49459349A>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.25T>A	X.37:g.49459349A>T	ENSP00000365320:p.Tyr9Asn						p.Y9N	NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN			2	157	-	Ovarian(276;0.236)		9					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.25T>A	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817955	0.32145	.	.	ENSG00000068985	ENST00000376150	T	0.11063	2.81	1.57	1.57	0.23409	.	.	.	.	.	T	0.11324	0.0276	M	0.68317	2.08	0.09310	N	1	P	0.52061	0.95	B	0.41723	0.365	T	0.21280	-1.0250	9	0.37606	T	0.19	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	9	O75459	GAGB1_HUMAN	N	9	ENSP00000365320:Y9N	ENSP00000365320:Y9N	Y	-	1	0	PAGE1	49346060	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.335000	0.19806	0.857000	0.35407	0.314000	0.21332	TAT		0.373	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			16	15	0	0	0	1	0	16	15					T	49459349	A	T	49459349	3	4	404	1	0	0	0	0	1	0	0	0	11389	420	15	5	435	5	PAGE1	23	49459349	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	387482	49459349	105811211	34	35539											
PCDH19	57526	broad.mit.edu	37	chrX	99662867	99662867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctggcacgctcaccgcGtaggtggactcgctaaacac	10	13	2	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:99662867G>A	ENST00000373034.4	-	1	2404	c.729C>T	c.(727-729)taC>taT	p.Y243Y	PCDH19_ENST00000420881.2_Silent_p.Y243Y|PCDH19_ENST00000255531.7_Silent_p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	243	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						CGCTCACCGCGTAGGTGGACT	0.627																																						ENST00000373034.4																			0				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						c.(727-729)taC>taT		protocadherin 19							125	129	128					X																	99662867		2181	4261	6442	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662867G>A	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.729C>T	X.37:g.99662867G>A						PCDH19_ENST00000420881.2_Silent_p.Y243Y|PCDH19_ENST00000255531.7_Silent_p.Y243Y	p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2404	-			243			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.729C>T	CCDS55462.1																																																																																				0.627	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		19	94	0	0	0	1	0	19	94					A	99662867	G	A	99662867	2	1	404	1	0	0	0	0	0	0	0	1	11514	1140	40	1		1	PCDH19	23	99662867	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	50203518	99662867	55607693	35	35540											
THOC2	57187	broad.mit.edu	37	chrX	122757971	122757971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattttcatagtctaattgAtcagccttatttccaccatc	3	10	3	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:122757971A>G	ENST00000245838.8	-	27	3289	c.3258T>C	c.(3256-3258)gaT>gaC	p.D1086D	THOC2_ENST00000355725.4_Silent_p.D1086D|THOC2_ENST00000491737.1_Silent_p.D971D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1086					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						AGTCTAATTGATCAGCCTTAT	0.323																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3256-3258)gaT>gaC		THO complex 2							129	107	114					X																	122757971		1822	4074	5896	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757971A>G	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.3258T>C	X.37:g.122757971A>G						THOC2_ENST00000491737.1_Silent_p.D971D|THOC2_ENST00000355725.4_Silent_p.D1086D	p.D1086D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			27	3289	-			1086					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.3258T>C	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	4.353	0.064981	0.08388	.	.	ENSG00000125676	ENST00000438358	.	.	.	5.77	3.37	0.38596	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-19.2007	7.9545	0.30033	0.6912:0.0:0.3088:0.0	.	.	.	.	P	159	.	.	S	-	1	0	THOC2	122585652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.497000	0.35649	0.299000	0.22661	0.486000	0.48141	TCA		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			33	31	0	0	0	1	0	33	31					G	122757971	A	G	122757971	2	3	404	1	0	0	0	0	0	0	0	1	15862	330	12	3		3	THOC2	23	122757971	Silent	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	23095104	122757971	32512589	36	35541											
ELF4	2000	broad.mit.edu	37	chrX	129201056	129201056	+	Frame_Shift_Del	DEL	G	G	-													accataccctgaacataggaGgaggacctcagtggcccctc							TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129201056delG	ENST00000308167.5	-	9	2011	c.1632delC	c.(1630-1632)tccfs	p.S545fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACATAGGAGGAGGACCTCA	0.617			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1630-1632)tcfs		E74-like factor 4 (ets domain transcription factor)							47	51	49					X																	129201056		2203	4300	6503	SO:0001589	frameshift_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201056delG	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1632delC	X.37:g.129201056delG	ENSP00000311280:p.Ser545fs					ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs	p.S545fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			9	2011	-			545						Frame_Shift_Del	DEL	ENST00000308167.5	37	c.1632delC	CCDS14617.1																																																																																				0.617	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		7	91						7	91	---	---	---	---	-	129201056	G	-	129201056	7	5	404	1	0	1	0	1	0	0	0	0	5056	987	35	0	363	0	ELF4	23	129201056	Frame_Shift_Del	DEL	G	TCGA-R8-A73M-01A-11D-A32B-08	6443085	129201056	26069504	37	35542											
GPR119	139760	broad.mit.edu	37	chrX	129519123	129519123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaggtacctgtcaaagGtgatcagcatgaccgtgagg	14	8	2	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129519123G>T	ENST00000276218.2	-	1	388	c.299C>A	c.(298-300)aCc>aAc	p.T100N		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	100					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CCTGTCAAAGGTGATCAGCAT	0.587																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(298-300)aCc>aAc		G protein-coupled receptor 119							128	125	126					X																	129519123		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519123G>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"GPCR / Class A : Orphans"	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.299C>A	X.37:g.129519123G>T	ENSP00000276218:p.Thr100Asn						p.T100N	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	388	-			100					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.299C>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206615	0.58343	.	.	ENSG00000147262	ENST00000276218	T	0.73047	-0.71	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.227331	0.38164	N	0.001794	T	0.66268	0.2772	L	0.38175	1.15	0.35549	D	0.803671	P	0.35821	0.523	B	0.39562	0.303	T	0.77115	-0.2707	10	0.87932	D	0	-3.1774	16.1931	0.82005	0.0:0.0:1.0:0.0	.	100	Q8TDV5	GP119_HUMAN	N	100	ENSP00000276218:T100N	ENSP00000276218:T100N	T	-	2	0	GPR119	129346804	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.084000	0.76866	2.341000	0.79615	0.513000	0.50165	ACC		0.587	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		101	122	1	0	1.79411e-48	1	1.90862e-48	101	122					T	129519123	G	T	129519123	3	4	404	1	0	0	0	0	1	0	0	0	6634	1261	44	4	712	4	GPR119	23	129519123	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	318067	129519123	25751437	38	35543											
GPR112	139378	broad.mit.edu	37	chrX	135431378	135431378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgacatcatttgtttAttcacctcatagtactgaag	5	9	4	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:135431378A>T	ENST00000394143.1	+	6	5804	c.5513A>T	c.(5512-5514)tAt>tTt	p.Y1838F	GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1838					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATTTGTTTATTCACCTCAT	0.438																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5512-5514)tAt>tTt		G protein-coupled receptor 112							137	119	125					X																	135431378		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431378A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5513A>T	X.37:g.135431378A>T	ENSP00000377699:p.Tyr1838Phe					GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F	p.Y1838F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5804	+	Acute lymphoblastic leukemia(192;0.000127)		1838					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5513A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	8.228	0.803961	0.16467	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32272	1.49;1.49;1.46;1.59;1.46	3.88	1.37	0.22104	.	.	.	.	.	T	0.11196	0.0273	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.32877	-0.9890	9	0.13853	T	0.58	.	2.3707	0.04330	0.5058:0.0:0.1589:0.3353	.	1775;1633;1838	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1838;1838;1633;1775;1633	ENSP00000377699:Y1838F;ENSP00000359686:Y1838F;ENSP00000416526:Y1633F;ENSP00000287534:Y1775F;ENSP00000377697:Y1633F	ENSP00000287534:Y1775F	Y	+	2	0	GPR112	135259044	0.001000	0.12720	0.017000	0.16124	0.002000	0.02628	-0.243000	0.08915	0.342000	0.23796	0.433000	0.28618	TAT		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			14	103	0	0	0	1	0	14	103					T	135431378	A	T	135431378	3	4	404	1	0	0	0	0	1	0	0	0	6629	449	16	5	5523	5	GPR112	23	135431378	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	5912255	135431378	19839182	39	35544											
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggactcactgggtagatgGtattcgactccttcaggtta	11	9	2	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		4	206	1	0	0.150653	1	0.150653	4	206					T	144825416	G	T	144825416	3	4	405	1	0	0	0	0	1	0	0	0	10199	1270	44	4	2202	4	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		144825416	104425205	1	35545											
ADAR	103	broad.mit.edu	37	chr1	154574120	154574120	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccatgtcaattagcAcagcatttatatctcgggcc	7	12	2	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:154574120A>C	ENST00000368474.4	-	2	1197	c.998T>G	c.(997-999)gTg>gGg	p.V333G	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.V376G|ADAR_ENST00000368471.3_Missense_Mutation_p.V38G	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	333					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCAATTAGCACAGCATTTAT	0.453																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(997-999)gTg>gGg		adenosine deaminase, RNA-specific							93	89	91					1																	154574120		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574120A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.998T>G	1.37:g.154574120A>C	ENSP00000357459:p.Val333Gly					ADAR_ENST00000292205.5_Missense_Mutation_p.V376G|ADAR_ENST00000368471.3_Missense_Mutation_p.V38G	p.V333G	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1197	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		333					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.998T>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615353	0.46631	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.75	4.75	0.60458	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.354378	0.29266	N	0.012648	T	0.49881	0.1583	L	0.40543	1.245	0.35097	D	0.764898	P;P;D	0.58620	0.846;0.846;0.983	P;P;P	0.57057	0.452;0.452;0.812	T	0.59989	-0.7350	10	0.87932	D	0	-12.2358	9.7567	0.40508	0.9186:0.0:0.0813:0.0	.	333;333;333	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	G	376;333;38;328	ENSP00000292205:V376G;ENSP00000357459:V333G;ENSP00000357456:V38G;ENSP00000431794:V328G	ENSP00000292205:V376G	V	-	2	0	ADAR	152840744	0.033000	0.19621	0.832000	0.32986	0.307000	0.27823	2.766000	0.47629	1.983000	0.57843	0.402000	0.26972	GTG		0.453	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		39	66	0	0	0	1	0	39	66					C	154574120	A	C	154574120	3	2	405	1	0	0	0	0	1	0	0	0	281	159	6	5	2738	5	ADAR	1	154574120	Missense_Mutation	SNP	A	TCGA-RY-A83X-01A-11D-A36O-08	9748704	154574120	94676501	2	35546											
ZNF638	27332	broad.mit.edu	37	chr2	71658501	71658501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagaaccagagcgaaaaCgcaagaagactgaagactct	9	9	2	6			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:71658501C>T	ENST00000409544.1	+	26	6325	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1899					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						AGAGCGAAAACGCAAGAAGAC	0.353																																						ENST00000409544.1																			0				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						c.(5695-5697)Cgc>Tgc		zinc finger protein 638							56	55	56					2																	71658501		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71658501C>T	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.5695C>T	2.37:g.71658501C>T	ENSP00000386433:p.Arg1899Cys					ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C	p.R1899C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			26	6325	+			1899					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5695C>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939703	0.73557	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.38887	1.11;1.11;1.62	5.03	4.1	0.47936	.	0.660222	0.12898	N	0.430062	T	0.52419	0.1733	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.50083	-0.8869	10	0.66056	D	0.02	-1.6478	11.3165	0.49394	0.1813:0.8187:0.0:0.0	.	1899;1899	Q14966-3;Q14966	.;ZN638_HUMAN	C	1899;1899;839	ENSP00000264447:R1899C;ENSP00000386433:R1899C;ENSP00000386813:R839C	ENSP00000264447:R1899C	R	+	1	0	ZNF638	71512009	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	2.317000	0.43770	2.510000	0.84645	0.478000	0.44815	CGC		0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		40	57	0	0	0	1	0	40	57					T	71658501	C	T	71658501	3	4	405	1	0	0	0	0	1	0	0	0	18052	536	19	1	5793	1	ZNF638	2	71658501	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		71658501	171540872	3	35547											
TANC1	85461	broad.mit.edu	37	chr2	160005688	160005688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaccgagctgttcgccgGcagctcaagaactgttgaca	11	11	1	3			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:160005688G>A	ENST00000263635.6	+	6	637	c.400G>A	c.(400-402)Gca>Aca	p.A134T	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	134					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTGTTCGCCGGCAGCTCAAGA	0.453																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(400-402)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							122	119	120					2																	160005688		1883	4095	5978	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160005688G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.400G>A	2.37:g.160005688G>A	ENSP00000263635:p.Ala134Thr					TANC1_ENST00000454300.1_Intron	p.A134T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			6	637	+			134					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.400G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.769558	0.96914	.	.	ENSG00000115183	ENST00000263635	T	0.62364	0.03	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.77004	0.989;0.912	T	0.79916	-0.1601	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	133;134	B9EK39;Q9C0D5	.;TANC1_HUMAN	T	134	ENSP00000263635:A134T	ENSP00000263635:A134T	A	+	1	0	TANC1	159713934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.164000	0.94755	2.756000	0.94617	0.655000	0.94253	GCA		0.453	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	121	0	0	0	1	0	4	121					A	160005688	G	A	160005688	3	1	405	1	0	0	0	0	1	0	0	0	15541	1203	42	2	414	2	TANC1	2	160005688	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	88347187	160005688	83193685	4	35548											
CCDC150	284992	broad.mit.edu	37	chr2	197541384	197541384	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaactattgcaagattgCgaggtgaattggaagcatca	10	6	2	2			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:197541384C>T	ENST00000389175.4	+	12	1504	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125*|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	457										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCAAGATTGCGAGGTGAATT	0.403																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1369-1371)Cga>Tga		coiled-coil domain containing 150							111	107	108					2																	197541384		1868	4119	5987	SO:0001587	stop_gained	284992							g.chr2:197541384C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1369C>T	2.37:g.197541384C>T	ENSP00000373827:p.Arg457*					CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125*	p.R457*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			12	1504	+			457					Q6P5U6|Q6P663|Q8N8V5	Nonsense_Mutation	SNP	ENST00000389175.4	37	c.1369C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703190	0.68501	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	.	.	.	5.22	3.36	0.38483	.	0.462766	0.17119	N	0.186312	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.5375	11.6739	0.51419	0.3219:0.6781:0.0:0.0	.	.	.	.	X	125;457;125	.	ENSP00000272831:R125X	R	+	1	2	CCDC150	197249629	0.806000	0.28996	0.017000	0.16124	0.064000	0.16182	2.002000	0.40835	0.711000	0.32018	0.563000	0.77884	CGA		0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		23	47	0	0	0	1	0	23	47					T	197541384	C	T	197541384	4	4	405	1	0	0	0	0	0	1	0	0	2785	760	27	1	1415	1	CCDC150	2	197541384	Nonsense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	37535696	197541384	45657989	5	35549											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	60	0	0	0	1	0	34	60					T	209113112	C	T	209113112	3	4	405	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	11571728	209113112	34086261	6	35550											
ARMC9	80210	broad.mit.edu	37	chr2	232141451	232141451	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacacgctggagtactcGgtggctttgctcatgaacct	11	11	1	1	rs141707678	byFrequency	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:232141451G>T	ENST00000349938.4	+	15	1631	c.1437G>T	c.(1435-1437)tcG>tcT	p.S479S	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	479						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)		TGGAGTACTCGGTGGCTTTGC	0.562																																						ENST00000349938.4																			0				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						c.(1435-1437)tcG>tcT		armadillo repeat containing 9							148	134	139					2																	232141451		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232141451G>T	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.1437G>T	2.37:g.232141451G>T						ARMC9_ENST00000483477.1_3'UTR	p.S479S	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	15	1631	+		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)	479					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1437G>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423342	0.25639	.	.	ENSG00000135931	ENST00000424740	.	.	.	5.27	-5.03	0.02973	.	.	.	.	.	T	0.45115	0.1326	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44667	-0.9313	4	.	.	.	-3.6499	4.855	0.13555	0.2687:0.4962:0.1393:0.0958	.	.	.	.	L	182	.	.	R	+	2	0	ARMC9	231849695	0.006000	0.16342	0.967000	0.41034	0.993000	0.82548	-1.261000	0.02855	-0.607000	0.05738	0.563000	0.77884	CGG		0.562	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		38	94	1	0	2.51541e-25	1	2.76082e-25	38	94					T	232141451	G	T	232141451	2	4	405	1	0	0	0	0	0	0	0	1	958	1103	39	4		4	ARMC9	2	232141451	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	23028339	232141451	11057922	7	35551											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	47	0	0	0	1	0	4	47					T	140811108	C	T	140811108	2	4	405	1	0	0	0	0	0	0	0	1	9207	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		140811108	50343168	8	35552											
IGF2BP3	10643	broad.mit.edu	37	chr7	23381773	23381773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggaacagacccaaggcGttcagatttaatccaggaat	12	8	1	2			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:23381773G>A	ENST00000258729.3	-	10	1469	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	371					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)|translation (GO:0006412)	cytoplasm (GO:0005737)|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)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GACCCAAGGCGTTCAGATTTA	0.468																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(1111-1113)aaC>aaT		insulin-like growth factor 2 mRNA binding protein 3							54	53	53					7																	23381773		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23381773G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1113C>T	7.37:g.23381773G>A							p.N371N	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			10	1469	-			371					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.1113C>T	CCDS5382.1																																																																																				0.468	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		19	33	0	0	0	1	0	19	33					A	23381773	G	A	23381773	2	1	405	1	0	0	0	0	0	0	0	1	7575	1136	40	1		1	IGF2BP3	7	23381773	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		23381773	135756890	9	35553											
TYW1B	441250	broad.mit.edu	37	chr7	72081809	72081809	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgctgaactttctcTgcagtaggtaacgccctgtg	10	11	1	1	rs201876441	byFrequency	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195	152	165					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	82	0	0	0	1	0	5	82					C	72081809	T	C	72081809	1	2	405	0	1	0	0	0	0	0	0	0	16816	1588	55	3		3	TYW1B	7	72081809	RNA	SNP	T	TCGA-RY-A83X-01A-11D-A36O-08	48700036	72081809	87056854	10	35554											
AGFG2	3268	broad.mit.edu	37	chr7	100161493	100161493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtgctgggcctggctTcccccaggcagtgccaccca	13	16	0	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:100161493T>C	ENST00000300176.4	+	10	1330	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	403	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.F403fs*30(1)		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						GGGCCTGGCTTCCCCCAGGCA	0.617											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300176.4																			1	Deletion - Frameshift(1)	p.F403fs*30(1)	ovary(1)	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						c.(1207-1209)tTc>tCc		ArfGAP with FG repeats 2							64	70	68					7																	100161493		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100161493T>C	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.1208T>C	7.37:g.100161493T>C	ENSP00000300176:p.Phe403Ser		OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.F403S	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			10	1330	+			403			Pro-rich.		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.1208T>C	CCDS5697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.49|16.49	3.138652|3.138652	0.56936|0.56936	.|.	.|.	ENSG00000106351|ENSG00000106351	ENST00000300176|ENST00000429987	T|.	0.26067|.	1.76|.	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	0.267984|.	0.36665|.	N|.	0.002461|.	T|T	0.64461|0.64461	0.2600|0.2600	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	B|.	0.44315|.	0.446|.	T|T	0.64253|0.64253	-0.6451|-0.6451	10|5	0.10636|.	T|.	0.68|.	-45.5213|-45.5213	9.911|9.911	0.41406|0.41406	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	403|.	O95081|.	AGFG2_HUMAN|.	S|P	403|145	ENSP00000300176:F403S|.	ENSP00000300176:F403S|.	F|S	+|+	2|1	0|0	AGFG2|AGFG2	99999429|99999429	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.414000|0.414000	0.31173|0.31173	1.450000|1.450000	0.35134|0.35134	1.847000|1.847000	0.53656|0.53656	0.454000|0.454000	0.30748|0.30748	TTC|TCC		0.617	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		40	54	0	0	0	1	0	40	54					C	100161493	T	C	100161493	3	2	405	1	0	0	0	0	1	0	0	0	381	1783	62	3	1246	3	AGFG2	7	100161493	Missense_Mutation	SNP	T	TCGA-RY-A83X-01A-11D-A36O-08	28079684	100161493	58977170	11	35555											
PKHD1L1	93035	broad.mit.edu	37	chr8	110530475	110530475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagatgctttatcttttGgttaaaggaactatacctgt	7	7	1	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr8:110530475G>A	ENST00000378402.5	+	73	11873	c.11769G>A	c.(11767-11769)ttG>ttA	p.L3923L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3923					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)			TTTATCTTTTGGTTAAAGGAA	0.378										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(11767-11769)ttG>ttA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							109	103	105					8																	110530475		1863	4087	5950	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110530475G>A	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.11769G>A	8.37:g.110530475G>A		HNSCC(38;0.096)					p.L3923L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		73	11873	+			3923					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.11769G>A	CCDS47911.1																																																																																				0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	46	0	0	0	1	0	20	46					A	110530475	G	A	110530475	2	1	405	1	0	0	0	0	0	0	0	1	11972	1339	47	2		2	PKHD1L1	8	110530475	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		110530475	35833547	12	35556											
OR13D1	286365	broad.mit.edu	37	chr9	107456886	107456886	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccagctttttctgttcctgCtctgcctcatcatgtacatg	6	13	4	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107456886C>G	ENST00000318763.5	+	1	227	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCTGTTCCTGCTCTGCCTCAT	0.443																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(184-186)Ctc>Gtc		olfactory receptor, family 13, subfamily D, member 1							110	110	110					9																	107456886		2203	4298	6501	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456886C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.184C>G	9.37:g.107456886C>G	ENSP00000317357:p.Leu62Val						p.L62V	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	227	+			62					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.184C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053712	0.08291	.	.	ENSG00000179055	ENST00000318763	T	0.16743	2.32	3.75	1.78	0.24846	.	0.310296	0.23245	N	0.050305	T	0.10981	0.0268	L	0.48877	1.53	0.20403	N	0.9999	B	0.27625	0.183	B	0.23852	0.049	T	0.32561	-0.9902	10	0.12766	T	0.61	.	4.1762	0.10353	0.4069:0.4771:0.0:0.116	.	62	Q8NGV5	O13D1_HUMAN	V	62	ENSP00000317357:L62V	ENSP00000317357:L62V	L	+	1	0	OR13D1	106496707	0.000000	0.05858	0.834000	0.33040	0.548000	0.35241	-2.016000	0.01446	0.223000	0.20920	0.609000	0.83330	CTC		0.443	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			46	69	0	0	0	1	0	46	69					G	107456886	C	G	107456886	3	3	405	1	0	0	0	0	1	0	0	0	10940	797	28	4	186	4	OR13D1	9	107456886	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		107456886	33756545	13	35557											
ABCA1	19	broad.mit.edu	37	chr9	107558678	107558678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgaagatgataatgaCcagtgtggcagggacaacgt	14	6	0	5			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107558678C>T	ENST00000374736.3	-	38	5543	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1717					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)	ATGATAATGACCAGTGTGGCA	0.433																																						ENST00000374736.3																			0				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						c.(5149-5151)Gtc>Atc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						117	99	105					9																	107558678		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107558678C>T	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.5149G>A	9.37:g.107558678C>T	ENSP00000363868:p.Val1717Ile						p.V1717I	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	38	5543	-			1717					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5149G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869193	0.91587	.	.	ENSG00000165029	ENST00000374736	D	0.82984	-1.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	L	0.58583	1.82	0.80722	D	1	P	0.36222	0.544	P	0.46885	0.53	D	0.85236	0.1035	10	0.48119	T	0.1	.	20.1272	0.97986	0.0:1.0:0.0:0.0	.	1717	O95477	ABCA1_HUMAN	I	1717	ENSP00000363868:V1717I	ENSP00000363868:V1717I	V	-	1	0	ABCA1	106598499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.828000	0.97474	0.655000	0.94253	GTC		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		15	17	0	0	0	1	0	15	17					T	107558678	C	T	107558678	3	4	405	1	0	0	0	0	1	0	0	0	28	507	18	2	1688	2	ABCA1	9	107558678	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	101792	107558678	33654753	14	35558											
SVIL	6840	broad.mit.edu	37	chr10	29822350	29822350	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagttcagggctgtttcgagCactttcctctttcaccaatt	8	11	3	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:29822350C>G	ENST00000355867.4	-	8	1698	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SVIL_ENST00000375398.2_Missense_Mutation_p.A316P|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	316					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGTTTCGAGCACTTTCCTCT	0.458																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(946-948)Gct>Cct		supervillin							63	58	60					10																	29822350		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822350C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.946G>C	10.37:g.29822350C>G	ENSP00000348128:p.Ala316Pro					SVIL_ENST00000355867.4_Missense_Mutation_p.A316P|SVIL_ENST00000375400.3_Intron	p.A316P			O95425	SVIL_HUMAN			10	1395	-		Breast(68;0.103)	316					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.946G>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806045	0.70682	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.48522	0.81;0.81	5.85	4.89	0.63831	.	0.420516	0.26836	N	0.022254	T	0.45716	0.1356	M	0.65975	2.015	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.45041	-0.9288	9	.	.	.	-17.4101	6.5249	0.22295	0.1517:0.7061:0.0:0.1422	.	316	O95425	SVIL_HUMAN	P	316	ENSP00000364547:A316P;ENSP00000348128:A316P	.	A	-	1	0	SVIL	29862356	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	0.880000	0.28159	2.767000	0.95098	0.655000	0.94253	GCT		0.458	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			13	35	0	0	0	1	0	13	35					G	29822350	C	G	29822350	3	3	405	1	0	0	0	0	1	0	0	0	15418	710	25	4	5822	4	SVIL	10	29822350	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		29822350	105712397	15	35559											
SORCS3	22986	broad.mit.edu	37	chr10	106602584	106602584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagctgtatgacttcaAcctgggcagcgtgactgaga	13	9	1	3			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:106602584A>G	ENST00000369701.3	+	2	889	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	221					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATGACTTCAACCTGGGCAGC	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(661-663)aAc>aGc		sortilin-related VPS10 domain containing receptor 3							103	94	97					10																	106602584		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106602584A>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.662A>G	10.37:g.106602584A>G	ENSP00000358715:p.Asn221Ser						p.N221S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	2	889	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	221					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.662A>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139614	0.77775	.	.	ENSG00000156395	ENST00000369701	T	0.35236	1.32	5.78	5.78	0.91487	VPS10 (1);	0.112218	0.56097	D	0.000023	T	0.45054	0.1323	L	0.32530	0.975	0.31698	N	0.641012	D	0.61697	0.99	P	0.58970	0.849	T	0.51593	-0.8686	10	0.41790	T	0.15	.	15.2958	0.73906	1.0:0.0:0.0:0.0	.	221	Q9UPU3	SORC3_HUMAN	S	221	ENSP00000358715:N221S	ENSP00000358715:N221S	N	+	2	0	SORCS3	106592574	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.329000	0.79170	2.200000	0.70718	0.460000	0.39030	AAC		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	66	0	0	0	1	0	4	66					G	106602584	A	G	106602584	3	3	405	1	0	0	0	0	1	0	0	0	14932	43	2	3	668	3	SORCS3	10	106602584	Missense_Mutation	SNP	A	TCGA-RY-A83X-01A-11D-A36O-08	76780234	106602584	28932163	16	35560											
OR10Q1	219960	broad.mit.edu	37	chr11	57995753	57995753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaggacagcctggtgcaCgcggatgtcagcgcaggcca	15	11	1	1	rs376884240		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr11:57995753C>T	ENST00000316770.2	-	1	637	c.595G>A	c.(595-597)Gtg>Atg	p.V199M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, 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.V199L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCTGGTGCACGCGGATGTCA	0.592																																						ENST00000316770.2																			1	Substitution - Missense(1)	p.V199L(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(595-597)Gtg>Atg		olfactory receptor, family 10, subfamily Q, member 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	77	66	70		595	2.6	0.8	11		70	0,8590		0,0,4295	no	missense	OR10Q1	NM_001004471.2	21	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	199/320	57995753	1,12991	2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995753C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.595G>A	11.37:g.57995753C>T	ENSP00000314324:p.Val199Met						p.V199M	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	637	-		Breast(21;0.0589)	199					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.595G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778811	0.16120	2.27E-4	0.0	ENSG00000180475	ENST00000316770	T	0.00174	8.62	4.55	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001672	T	0.00144	0.0004	L	0.33245	0.995	0.09310	N	1	P	0.50617	0.937	P	0.44897	0.463	T	0.50808	-0.8784	10	0.27082	T	0.32	.	6.759	0.23530	0.0:0.6777:0.1478:0.1746	.	199	Q8NGQ4	O10Q1_HUMAN	M	199	ENSP00000314324:V199M	ENSP00000314324:V199M	V	-	1	0	OR10Q1	57752329	0.000000	0.05858	0.841000	0.33234	0.016000	0.09150	-0.646000	0.05403	1.142000	0.42291	0.580000	0.79431	GTG		0.592	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		21	28	0	0	0	1	0	21	28					T	57995753	C	T	57995753	3	4	405	1	0	0	0	0	1	0	0	0	10916	536	19	1	368	1	OR10Q1	11	57995753	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		57995753	77010763	17	35561											
KRT81	3887	broad.mit.edu	37	chr12	52680923	52680923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggcgcctgtaggtggCgatctcgatgtccaggccca	14	13	1	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:52680923C>T	ENST00000327741.5	-	7	1278	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	404	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGTGGCGATCTCGATG	0.642																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(1210-1212)Gcc>Acc		keratin 81							56	57	56					12																	52680923		2203	4295	6498	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52680923C>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1210G>A	12.37:g.52680923C>T	ENSP00000369349:p.Ala404Thr					KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.A404T	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1278	-			404			Coil 2.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.1210G>A	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430192	0.83776	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.90900	-2.75	5.32	4.41	0.53225	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.41500	U	0.000866	D	0.91764	0.7395	M	0.82716	2.605	0.41247	D	0.986682	B	0.33345	0.409	B	0.37989	0.262	D	0.91635	0.5322	10	0.66056	D	0.02	.	14.384	0.66931	0.0:0.9274:0.0:0.0726	.	404	Q14533	KRT81_HUMAN	T	404	ENSP00000369349:A404T	ENSP00000369349:A404T	A	-	1	0	KRT81	50967190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.063000	0.57499	1.203000	0.43233	0.561000	0.74099	GCC		0.642	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		10	116	0	0	0	1	0	10	116					T	52680923	C	T	52680923	3	4	405	1	0	0	0	0	1	0	0	0	8495	768	27	1	319	1	KRT81	12	52680923	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		52680923	81170972	18	35562											
LRIG3	121227	broad.mit.edu	37	chr12	59274457	59274457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactggcaaattccacctcGcgcagccgaaggatggtggt	12	12	1	0	rs377193373		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:59274457G>A	ENST00000320743.3	-	13	1993	c.1707C>T	c.(1705-1707)cgC>cgT	p.R569R	LRIG3_ENST00000379141.4_Silent_p.R509R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	569	Ig-like C2-type 1.				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)			ATTCCACCTCGCGCAGCCGAA	0.468			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				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						c.(1705-1707)cgC>cgT		leucine-rich repeats and immunoglobulin-like domains 3		G	,	0,4406		0,0,2203	93	82	86		1527,1707	3.2	0.6	12		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	509/1060,569/1120	59274457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274457G>A	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.1707C>T	12.37:g.59274457G>A						LRIG3_ENST00000379141.4_Silent_p.R509R	p.R569R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1993	-			569			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1707C>T	CCDS8960.1																																																																																				0.468	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		24	51	0	0	0	1	0	24	51					A	59274457	G	A	59274457	2	1	405	1	0	0	0	0	0	0	0	1	8946	1074	38	1		1	LRIG3	12	59274457	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	6593534	59274457	74577438	19	35563											
UBC	7316	broad.mit.edu	37	chr12	125397211	125397211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagcaccaggtgcaaggtGgactctttctggatgttgta	14	8	2	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:125397211G>A	ENST00000536769.1	-	1	2683	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	UBC_ENST00000339647.5_Silent_p.S369S|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	369	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)		GGTGCAAGGTGGACTCTTTCT	0.542																																						ENST00000536769.1																			0				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						c.(1105-1107)tcC>tcT		ubiquitin C							216	196	203					12																	125397211		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397211G>A		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		ENST00000536769.1:c.1107C>T	12.37:g.125397211G>A						UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000339647.5_Silent_p.S369S	p.S369S			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2683	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		369			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1107C>T	CCDS9260.1																																																																																				0.542	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		87	227	0	0	0	1	0	87	227					A	125397211	G	A	125397211	2	1	405	1	0	0	0	0	0	0	0	1	16839	1335	47	2		2	UBC	12	125397211	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	66122754	125397211	8454684	20	35564											
ADCY4	196883	broad.mit.edu	37	chr14	24787935	24787935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccccaaatgtcatattgCggcttctgggccccaataac	8	13	2	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					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)		TGTCATATTGCGGCTTCTGGG	0.522																																						ENST00000310677.4																			0				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						c.(3004-3006)ccG>ccA		adenylate cyclase 4							105	100	102					14																	24787935		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787935C>T	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.3006G>A	14.37:g.24787935C>T						ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	25	3119	-			1002					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.3006G>A	CCDS9627.1																																																																																				0.522	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			11	120	0	0	0	1	0	11	120					T	24787935	C	T	24787935	2	4	405	1	0	0	0	0	0	0	0	1	296	755	27	1		1	ADCY4	14	24787935	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		24787935	82561605	21	35565											
NEO1	4756	broad.mit.edu	37	chr15	73418781	73418781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggtgatatcagacttgGtatttttgaaacagccttct	9	7	2	4			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr15:73418781G>A	ENST00000339362.5	+	5	1195	c.748G>A	c.(748-750)Gta>Ata	p.V250I	NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I|NEO1_ENST00000261908.6_Missense_Mutation_p.V250I			Q92859	NEO1_HUMAN	neogenin 1	250	Ig-like C2-type 3.				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						ATCAGACTTGGTATTTTTGAA	0.388																																						ENST00000339362.5																			0				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						c.(748-750)Gta>Ata		neogenin 1							138	130	133					15																	73418781		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73418781G>A	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.748G>A	15.37:g.73418781G>A	ENSP00000341198:p.Val250Ile					NEO1_ENST00000261908.6_Missense_Mutation_p.V250I|NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I	p.V250I			Q92859	NEO1_HUMAN			5	1195	+			250			Ig-like C2-type 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.748G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018597	0.19355	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.68903	-0.36;-0.36	5.65	3.58	0.41010	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.241941	0.41194	D	0.000924	T	0.55465	0.1922	L	0.54908	1.71	0.36738	D	0.882081	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.15870	0.014;0.014;0.014	T	0.53669	-0.8406	10	0.21014	T	0.42	-3.4453	7.0319	0.24972	0.1629:0.1396:0.6974:0.0	.	250;250;250	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	I	250	ENSP00000341198:V250I;ENSP00000261908:V250I	ENSP00000261908:V250I	V	+	1	0	NEO1	71205834	0.998000	0.40836	0.990000	0.47175	0.421000	0.31385	1.628000	0.37060	1.226000	0.43582	0.467000	0.42956	GTA		0.388	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	114	0	0	0	1	0	4	114					A	73418781	G	A	73418781	3	1	405	1	0	0	0	0	1	0	0	0	10336	1261	44	2	762	2	NEO1	15	73418781	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		73418781	29112611	22	35566											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	9	16	1	1	rs201277640		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000429149.2_Missense_Mutation_p.A208V|FLJ00418_ENST00000597002.1_5'Flank	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96	105	102		620,623,623	-3.1	0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	188	0	0	0	1	0	4	188					T	70693984	C	T	70693984	3	4	405	1	0	0	0	0	1	0	0	0	7694	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		70693984	19660769	23	35567											
MBTPS1	8720	broad.mit.edu	37	chr16	84104317	84104317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaccaaggccataagaccGaggagtaggagaaggcaact	13	10	0	2	rs553862782		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:84104317G>A	ENST00000343411.3	-	13	2153	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	553					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						CCATAAGACCGAGGAGTAGGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.001					ENST00000343411.3																			0				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						c.(1657-1659)tCg>tTg		membrane-bound transcription factor peptidase, site 1							101	90	94					16																	84104317		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104317G>A	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.1658C>T	16.37:g.84104317G>A	ENSP00000344223:p.Ser553Leu						p.S553L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			13	2153	-			553					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1658C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336756	0.60963	.	.	ENSG00000140943	ENST00000343411	T	0.14893	2.47	5.76	5.76	0.90799	.	0.109437	0.64402	D	0.000004	T	0.20047	0.0482	L	0.42245	1.32	0.46701	D	0.999166	B	0.18461	0.028	B	0.15870	0.014	T	0.01743	-1.1283	10	0.49607	T	0.09	-16.2538	19.9699	0.97282	0.0:0.0:1.0:0.0	.	553	Q14703	MBTP1_HUMAN	L	553	ENSP00000344223:S553L	ENSP00000344223:S553L	S	-	2	0	MBTPS1	82661818	1.000000	0.71417	0.969000	0.41365	0.825000	0.46686	6.640000	0.74319	2.730000	0.93505	0.591000	0.81541	TCG		0.512	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		4	98	0	0	0	1	0	4	98					A	84104317	G	A	84104317	3	1	405	1	0	0	0	0	1	0	0	0	9361	1059	37	1	1544	1	MBTPS1	16	84104317	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	13410333	84104317	6250436	24	35568											
EVPL	2125	broad.mit.edu	37	chr17	74004207	74004207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggggacatgtccttcccCgtctcgggttccaggatgga	13	11	1	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr17:74004207C>T	ENST00000301607.3	-	22	5332	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.T1715T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1693	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTCCTTCCCCGTCTCGGGTT	0.617																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5077-5079)acG>acA		envoplakin							105	93	97					17																	74004207		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004207C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5079G>A	17.37:g.74004207C>T						EVPL_ENST00000586740.1_Silent_p.T1715T	p.T1693T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5332	-			1693			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5079G>A	CCDS11737.1																																																																																				0.617	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		45	66	0	0	0	1	0	45	66					T	74004207	C	T	74004207	2	4	405	1	0	0	0	0	0	0	0	1	5292	639	23	1		1	EVPL	17	74004207	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		74004207	7191003	25	35569											
OR10H5	284433	broad.mit.edu	37	chr19	15905218	15905218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcactgtcatgggctaCgaccgctacgtggccatctg	11	14	3	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:15905218C>T	ENST00000308940.8	+	1	458	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	120						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(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCATGGGCTACGACCGCTACG	0.642																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(358-360)taC>taT		olfactory receptor, family 10, subfamily H, member 5							142	118	126					19																	15905218		2203	4300	6503	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905218C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.360C>T	19.37:g.15905218C>T							p.Y120Y	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	458	+			120					Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.360C>T	CCDS32940.1																																																																																				0.642	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			48	73	0	0	0	1	0	48	73					T	15905218	C	T	15905218	2	4	405	1	0	0	0	0	0	0	0	1	10909	547	19	1		1	OR10H5	19	15905218	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		15905218	43223765	26	35570											
CIC	23152	broad.mit.edu	37	chr19	42795089	42795089	+	Frame_Shift_Del	DEL	G	G	-													gtgcctgggggctccccgctGggtgtcagcttagtgtattc							TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:42795089delG	ENST00000575354.2	+	10	2209	c.2169delG	c.(2167-2169)ctgfs	p.L723fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.L1632fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	723	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)				GCTCCCCGCTGGGTGTCAGCT	0.652			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(4894-4896)ctfs		capicua transcriptional repressor							27	28	28					19																	42795089		2201	4294	6495	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795089delG	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.2169delG	19.37:g.42795089delG	ENSP00000458663:p.Leu723fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L723fs	p.L1632fs			Q96RK0	CIC_HUMAN			11	4964	+		Prostate(69;0.00682)	723					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4896delG	CCDS12601.1																																																																																				0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	10						18	10	---	---	---	---	-	42795089	G	-	42795089	7	5	405	1	0	1	0	1	0	0	0	0	3424	1335	47	0	2207	0	CIC	19	42795089	Frame_Shift_Del	DEL	G	TCGA-RY-A83X-01A-11D-A36O-08	26889871	42795089	16333894	27	35571											
FAM9C	171484	broad.mit.edu	37	chrX	13061059	13061059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatatcttctagctccttGgtatcaaccctgtaacaaaa	5	11	3	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:13061059G>A	ENST00000333995.3	-	4	322	c.192C>T	c.(190-192)acC>acT	p.T64T	FAM9C_ENST00000380625.3_Silent_p.T64T|FAM9C_ENST00000542843.1_Silent_p.T64T			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	64						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CTAGCTCCTTGGTATCAACCC	0.348																																						ENST00000542843.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(190-192)acC>acT		family with sequence similarity 9, member C							102	87	92					X																	13061059		2203	4300	6503	SO:0001819	synonymous_variant	171484					nucleus		g.chrX:13061059G>A		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.192C>T	X.37:g.13061059G>A						FAM9C_ENST00000380625.3_Silent_p.T64T|FAM9C_ENST00000333995.3_Silent_p.T64T	p.T64T			Q8IZT9	FAM9C_HUMAN			4	402	-			64					B2R9G7|Q5HYJ6	Silent	SNP	ENST00000333995.3	37	c.192C>T	CCDS35203.1	.	.	.	.	.	.	.	.	.	.	G	0.476	-0.882359	0.02530	.	.	ENSG00000187268	ENST00000438997	.	.	.	0.415	-0.83	0.10792	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25847	-1.0120	3	.	.	.	.	.	.	.	.	.	.	.	L	24	.	.	P	-	2	0	FAM9C	12970980	0.008000	0.16893	0.002000	0.10522	0.012000	0.07955	-0.321000	0.08018	-0.678000	0.05224	0.181000	0.17075	CCA		0.348	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		8	83	0	0	0	1	0	8	83					A	13061059	G	A	13061059	2	1	405	1	0	0	0	0	0	0	0	1	5661	1335	47	2		2	FAM9C	23	13061059	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		13061059	142209501	28	35572											
DACH2	117154	broad.mit.edu	37	chrX	85404019	85404019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaggtccggatcctccGcgggctgggggccatccagc	16	14	0	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:85404019G>A	ENST00000373125.4	+	1	395	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DACH2_ENST00000373131.1_Missense_Mutation_p.R132H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	132	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CGGATCCTCCGCGGGCTGGGG	0.567																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(394-396)cGc>cAc		dachshund homolog 2 (Drosophila)							54	55	55					X																	85404019		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404019G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.395G>A	X.37:g.85404019G>A	ENSP00000362217:p.Arg132His					DACH2_ENST00000373125.4_Missense_Mutation_p.R132H	p.R132H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	558	+			132			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.395G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374782	0.82573	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.86164	-2.08;-2.08	4.5	4.5	0.54988	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.51477	D	0.000094	D	0.94072	0.8100	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95253	0.8361	10	0.87932	D	0	.	16.1211	0.81357	0.0:0.0:1.0:0.0	.	132;132	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	H	132	ENSP00000362223:R132H;ENSP00000362217:R132H	ENSP00000345134:R132H	R	+	2	0	DACH2	85290675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.862000	0.92283	2.071000	0.62044	0.544000	0.68410	CGC		0.567	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		5	72	0	0	0	1	0	5	72					A	85404019	G	A	85404019	3	1	405	1	0	0	0	0	1	0	0	0	4221	1087	38	1	397	1	DACH2	23	85404019	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	72342960	85404019	69866541	29	35573											
FBXO2	26232	broad.mit.edu	37	chr1	11710604	11710604	+	Frame_Shift_Del	DEL	C	C	-													ccagtggtcgcgctcctcctCcacgccgccctcgggcacca							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:11710604delC	ENST00000354287.4	-	2	651	c.310delG	c.(310-312)gagfs	p.E106fs	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	106					cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCCTCCTCCACGCCGCCC	0.697																																						ENST00000354287.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(310-312)agfs		F-box protein 2							17	20	19					1																	11710604		2195	4294	6489	SO:0001589	frameshift_variant	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11710604delC	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"F-boxes /  "other""	13581	protein-coding gene	gene with protein product		607112	"F-box only protein 2", "organ of Corti protein 1"	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.310delG	1.37:g.11710604delC	ENSP00000346240:p.Glu106fs						p.E106fs	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	2	651	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)	106					B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Frame_Shift_Del	DEL	ENST00000354287.4	37	c.310delG	CCDS130.1																																																																																				0.697	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		2	4						2	4	---	---	---	---	-	11710604	C	-	11710604	7	5	406	1	0	1	0	1	0	0	0	0	5732	864	30	0	600	0	FBXO2	1	11710604	Frame_Shift_Del	DEL	C	TCGA-RY-A83Y-01A-11D-A36O-08		11710604	237540017	1	35574											
CDKN2C	1031	broad.mit.edu	37	chr1	51439739	51439739	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgttaacatcgaggataatGaagggaacctgcccttgcac	10	9	0	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:51439739G>T	ENST00000262662.1	+	4	2338	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	102					cell cycle arrest (GO:0007050)|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 phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	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?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGAGGATAATGAAGGGAACCT	0.532			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(304-306)Gaa>Taa		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							83	76	78					1																	51439739		2203	4300	6503	SO:0001587	stop_gained	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439739G>T	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.304G>T	1.37:g.51439739G>T	ENSP00000262662:p.Glu102*					CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102*	p.E102*			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2338	+			102					Q8TB83	Nonsense_Mutation	SNP	ENST00000262662.1	37	c.304G>T	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	38	7.107102	0.98066	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	.	.	.	5.83	5.83	0.93111	.	0.427176	0.26496	N	0.024047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.9408	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000262662:E102X	E	+	1	0	CDKN2C	51212327	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.282000	0.65615	2.770000	0.95276	0.655000	0.94253	GAA		0.532	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		29	9	1	0	4.22769e-11	1	4.33339e-11	29	9					T	51439739	G	T	51439739	4	4	406	1	0	0	0	0	0	1	0	0	3165	1291	45	4	310	4	CDKN2C	1	51439739	Nonsense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	39729135	51439739	197810882	2	35575											
FUBP1	8880	broad.mit.edu	37	chr1	78429797	78429797	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcatgttgacatcGgtctggaggtcctgttattt	11	8	2	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:78429797G>A	ENST00000370768.2	-	12	1072	c.991C>T	c.(991-993)Cga>Tga	p.R331*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.R331*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	331	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTGACATCGGTCTGGAGGT	0.323			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(991-993)Cga>Tga		far upstream element (FUSE) binding protein 1							234	227	229					1																	78429797		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429797G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.991C>T	1.37:g.78429797G>A	ENSP00000359804:p.Arg331*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.R331*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352*	p.R331*			Q96AE4	FUBP1_HUMAN			12	1078	-			331			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.991C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135069	0.94517	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	0.557	0.17260	.	0.052464	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-14.5785	16.917	0.86154	0.0:0.0:0.1913:0.8087	.	.	.	.	X	330;331;331;330;352	.	ENSP00000294623:R330X	R	-	1	2	FUBP1	78202385	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	0.942000	0.29017	0.025000	0.15241	0.650000	0.86243	CGA		0.323	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		48	18	0	0	0	1	0	48	18					A	78429797	G	A	78429797	4	1	406	1	0	0	0	0	0	1	0	0	6092	1124	39	1	979	1	FUBP1	1	78429797	Nonsense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	26990058	78429797	170820824	3	35576											
HAO2	51179	broad.mit.edu	37	chr1	119934802	119934802	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctggatggcggggtcCgaactggcaatgatgtgctg	15	9	1	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:119934802C>T	ENST00000325945.3	+	6	914	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HAO2_ENST00000361035.4_Nonsense_Mutation_p.R294*	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	281	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)	p.R281*(1)		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)		TGGCGGGGTCCGAACTGGCAA	0.527																																						ENST00000361035.4																			1	Substitution - Nonsense(1)	p.R281*(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(880-882)Cga>Tga		hydroxyacid oxidase 2 (long chain)							150	141	144					1																	119934802		2203	4300	6503	SO:0001587	stop_gained	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119934802C>T	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.841C>T	1.37:g.119934802C>T	ENSP00000316339:p.Arg281*					HAO2_ENST00000325945.3_Nonsense_Mutation_p.R281*	p.R294*	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	7	1163	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	281	LGA -> HED (in Ref. 2; AAF14000).		FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Nonsense_Mutation	SNP	ENST00000325945.3	37	c.880C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626756	0.96671	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	.	.	.	6.07	0.452	0.16634	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9401	9.9385	0.41565	0.4639:0.4741:0.0:0.062	.	.	.	.	X	294;281	.	.	R	+	1	2	HAO2	119736325	1.000000	0.71417	0.191000	0.23289	0.697000	0.40408	1.796000	0.38794	0.094000	0.17404	0.655000	0.94253	CGA		0.527	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		24	4	0	0	0	1	0	24	4					T	119934802	C	T	119934802	4	4	406	1	0	0	0	0	0	1	0	0	6952	644	23	1	859	1	HAO2	1	119934802	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	41505005	119934802	129315819	4	35577											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046419	69046419	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgccactgaagacctcCgaatttctaggacagacagc	11	11	1	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:69046419C>T	ENST00000295381.3	+	9	1584	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	389					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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGAAGACCTCCGAATTTCTAG	0.532																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(1165-1167)Cga>Tga		Rho GTPase activating protein 25							93	89	91					2																	69046419		2203	4300	6503	SO:0001587	stop_gained	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046419C>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1165C>T	2.37:g.69046419C>T	ENSP00000295381:p.Arg389*					ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350*	p.R389*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			9	1584	+			389					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Nonsense_Mutation	SNP	ENST00000295381.3	37	c.1165C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.532791	0.97641	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	.	.	.	5.22	-1.09	0.09904	.	1.129380	0.06436	N	0.725123	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	0.0831	0.00033	0.2508:0.2151:0.2234:0.3107	.	.	.	.	X	389;390;350;382;383;383;383;374;83	.	ENSP00000295381:R389X	R	+	1	2	ARHGAP25	68899923	0.000000	0.05858	0.000000	0.03702	0.717000	0.41224	-0.419000	0.07071	-0.092000	0.12417	-0.251000	0.11542	CGA		0.532	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		36	48	0	0	0	1	0	36	48					T	69046419	C	T	69046419	4	4	406	1	0	0	0	0	0	1	0	0	874	644	23	1	1242	1	ARHGAP25	2	69046419	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		69046419	174152954	5	35578											
CCT7	10574	broad.mit.edu	37	chr2	73474935	73474936	+	Frame_Shift_Ins	INS	-	-	AA													attcaagaagactttctcttINSacgctgggtttgaaatgcaa							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:73474935_73474936insAA	ENST00000258091.5	+	7	805_806	c.664_665insAA	c.(664-666)tacfs	p.Y222fs	CCT7_ENST00000538797.1_Frame_Shift_Ins_p.Y94fs|CCT7_ENST00000539919.1_Frame_Shift_Ins_p.Y178fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.Y18fs|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Frame_Shift_Ins_p.Y135fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.Y122fs	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	222					'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)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GACTTTCTCTTACGCTGGGTTT	0.381																																						ENST00000539919.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						c.(532-534)cgcfs		chaperonin containing TCP1, subunit 7 (eta)																																				SO:0001589	frameshift_variant	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73474935_73474936insAA	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	Exception_encountered	2.37:g.73474935_73474936insAA	ENSP00000258091:p.Tyr222fs					CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Frame_Shift_Ins_p.R135fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.R122fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.R18fs|CCT7_ENST00000538797.1_Frame_Shift_Ins_p.R94fs|CCT7_ENST00000258091.5_Frame_Shift_Ins_p.R222fs	p.R178fs	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN			8	903_904	+			222					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Frame_Shift_Ins	INS	ENST00000258091.5	37	c.532_533insAA	CCDS46336.1																																																																																				0.381	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			25	40						25	40	---	---	---	---	AA	73474936	-	AA	73474935	7	5	406	1	0	1	1	0	0	0	0	0	2959	1754	61	0	690	0	CCT7	2	73474935	Frame_Shift_Ins	INS	-	TCGA-RY-A83Y-01A-11D-A36O-08	4428516	73474935	169724438	6	35579											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	11	12	0	2	rs373153121		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {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)			GCTGGACCCACGCCAGCAGCA	0.428																																						ENST00000589042.1																			0				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						c.(56911-56913)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151	150	151		29716,49207,30091,30292	5.2	1	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>T	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.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000456053.1_RNA	p.V18971M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	57135	-			17330			Fibronectin type-III 37.		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	ENST00000591111.1	37	c.56911G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	96	0	0	0	1	0	73	96					T	179463526	C	T	179463526	3	4	406	1	0	0	0	0	1	0	0	0	16732	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	105988591	179463526	63735847	7	35580											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	47	0	0	0	1	0	32	47					T	209113112	C	T	209113112	3	4	406	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	29649586	209113112	34086261	8	35581											
KIF15	56992	broad.mit.edu	37	chr3	44879796	44879796	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgaggacctggctcaTgccactgagcagctgaacat	11	12	2	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr3:44879796T>C	ENST00000326047.4	+	27	3350	c.3201T>C	c.(3199-3201)caT>caC	p.H1067H	KIF15_ENST00000425755.1_Silent_p.H702H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1067					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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTGGCTCATGCCACTGAGC	0.468																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(3199-3201)caT>caC		kinesin family member 15							62	65	64					3																	44879796		2203	4300	6503	SO:0001819	synonymous_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44879796T>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3201T>C	3.37:g.44879796T>C						KIF15_ENST00000425755.1_Silent_p.H702H	p.H1067H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	27	3350	+			1067					Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	c.3201T>C	CCDS33744.1																																																																																				0.468	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			19	22	0	0	0	1	0	19	22					C	44879796	T	C	44879796	2	2	406	1	0	0	0	0	0	0	0	1	8277	1461	51	3		3	KIF15	3	44879796	Silent	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		44879796	153142634	9	35582											
MYL5	4636	broad.mit.edu	37	chr4	672778	672778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catggatcagaaccgagatgGcttcattgacaaggaggacc	12	9	2	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:672778G>C	ENST00000400159.2	+	3	248	c.143G>C	c.(142-144)gGc>gCc	p.G48A	MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A|MYL5_ENST00000506838.1_Missense_Mutation_p.G7A	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						AACCGAGATGGCTTCATTGAC	0.627																																						ENST00000506838.1																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(19-21)gGc>gCc		myosin, light chain 5, regulatory							108	117	114					4																	672778		2195	4299	6494	SO:0001583	missense	4636				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr4:672778G>C		CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"Myosins / Light chain", "EF-hand domain containing"	7586	protein-coding gene	gene with protein product		160782	"myosin, light polypeptide 5, regulatory"			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.143G>C	4.37:g.672778G>C	ENSP00000383023:p.Gly48Ala					MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000400159.2_Missense_Mutation_p.G48A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A	p.G7A			Q02045	MYL5_HUMAN			4	2544	+			48					Q8IXL8	Missense_Mutation	SNP	ENST00000400159.2	37	c.20G>C	CCDS43197.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469368	0.84533	.	.	ENSG00000215375	ENST00000506838;ENST00000505477;ENST00000511290;ENST00000400159;ENST00000507804	D;D;D;D;T	0.86097	-2.07;-2.07;-2.07;-2.0;-1.42	4.57	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.31199	U	0.008061	D	0.94565	0.8249	H	0.99545	4.62	0.41617	D	0.98894	D	0.53885	0.963	P	0.54100	0.742	D	0.97011	0.9736	10	0.87932	D	0	.	14.8516	0.70300	0.0:0.0:1.0:0.0	.	48	Q02045	MYL5_HUMAN	A	7;7;7;48;53	ENSP00000427153:G7A;ENSP00000423118:G7A;ENSP00000425162:G7A;ENSP00000383023:G48A;ENSP00000427317:G53A	ENSP00000383023:G48A	G	+	2	0	MYL5	662778	1.000000	0.71417	0.204000	0.23530	0.865000	0.49528	8.557000	0.90700	2.084000	0.62774	0.591000	0.81541	GGC		0.627	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358570.2	NM_002477		27	66	0	0	0	1	0	27	66					C	672778	G	C	672778	3	2	406	1	0	0	0	0	1	0	0	0	10050	1203	42	4	153	4	MYL5	4	672778	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		672778	190481498	10	35583											
PCDH7	5099	broad.mit.edu	37	chr4	30921804	30921804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagtgacgttttctgttgtGagtcagcctcaggacccaca	11	10	3	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:30921804G>A	ENST00000543491.1	+	2	3204	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTTCTGTTGTGAGTCAGCCTC	0.428																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3202-3204)gtG>gtA		protocadherin 7							80	85	83					4																	30921804		2061	4206	6267	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30921804G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3204G>A	4.37:g.30921804G>A						PCDH7_ENST00000509925.1_3'UTR	p.V1068V			O60245	PCDH7_HUMAN			2	3204	+			0					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000543491.1	37	c.3204G>A	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866300	0.17250	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	T	0.77011	0.4068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74150	-0.3758	4	.	.	.	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	.	.	.	K	758	.	.	E	+	1	0	PCDH7	30530902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.351000	0.73022	2.788000	0.95919	0.650000	0.86243	GAG		0.428	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		19	39	0	0	0	1	0	19	39					A	30921804	G	A	30921804	2	1	406	1	0	0	0	0	0	0	0	1	11516	1277	45	2		2	PCDH7	4	30921804	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	30249026	30921804	160232472	11	35584											
AGPAT9	84803	broad.mit.edu	37	chr4	84519288	84519288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaatgatgaccagctggGccatcgtctgtgacgtgtgg	14	9	1	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:84519288G>A	ENST00000395226.2	+	11	1299	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	361					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)				GACCAGCTGGGCCATCGTCTG	0.453																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(1081-1083)Gcc>Acc		1-acylglycerol-3-phosphate O-acyltransferase 9							123	109	114					4																	84519288		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519288G>A	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.1081G>A	4.37:g.84519288G>A	ENSP00000378651:p.Ala361Thr					AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T	p.A361T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			11	1299	+		Hepatocellular(203;0.114)	361					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.1081G>A	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956033	0.92726	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.50277	0.75;0.75	5.62	5.62	0.85841	.	0.046754	0.85682	D	0.000000	T	0.63757	0.2538	M	0.89163	3.01	0.80722	D	1	P	0.47191	0.891	P	0.46452	0.517	T	0.67169	-0.5738	10	0.33141	T	0.24	-12.7927	19.6718	0.95914	0.0:0.0:1.0:0.0	.	361	Q53EU6	GPAT3_HUMAN	T	361	ENSP00000378651:A361T;ENSP00000264409:A361T	ENSP00000264409:A361T	A	+	1	0	AGPAT9	84738312	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.835000	0.99442	2.639000	0.89480	0.557000	0.71058	GCC		0.453	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		32	50	0	0	0	1	0	32	50					A	84519288	G	A	84519288	3	1	406	1	0	0	0	0	1	0	0	0	392	1203	42	2	1119	2	AGPAT9	4	84519288	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	53597484	84519288	106634988	12	35585											
NIPBL	25836	broad.mit.edu	37	chr5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-													gaacctgctatgcggaacaaGgctgatcagcaacttgtgga							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:37051937delG	ENST00000282516.8	+	41	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					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)			TGCGGAACAAGGCTGATCAGC	0.318																																						ENST00000282516.8																			0				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						c.(7009-7011)aafs		Nipped-B homolog (Drosophila)							84	89	87					5																	37051937		2203	4300	6503	SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051937delG	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.7011delG	5.37:g.37051937delG	ENSP00000282516:p.Lys2337fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7510	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2337					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.7011delG	CCDS3920.1																																																																																				0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		36	54						36	54	---	---	---	---	-	37051937	G	-	37051937	7	5	406	1	0	1	0	1	0	0	0	0	10428	991	35	0	7169	0	NIPBL	5	37051937	Frame_Shift_Del	DEL	G	TCGA-RY-A83Y-01A-11D-A36O-08		37051937	143863323	13	35586											
ACSL6	23305	broad.mit.edu	37	chr5	131309076	131309076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagccaacacgccctccGtggcaatagacgacagacta	9	13	0	3	rs373328179		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:131309076G>A	ENST00000379240.1	-	12	1164	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000379244.1_Silent_p.H337H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000431707.1_Silent_p.H317H|ACSL6_ENST00000379264.2_Silent_p.H362H|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000544770.1_Silent_p.H246H			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	337					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACGCCCTCCGTGGCAATAGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20373	0.001		0.0	False		,,,				2504	0.0					ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1084-1086)caC>caT		acyl-CoA synthetase long-chain family member 6		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	82	70	74		1086,981,1011,1044,,1086	-11.4	0.3	5		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	ACSL6	NM_001009185.2,NM_001205247.1,NM_001205248.1,NM_001205250.1,NM_001205251.1,NM_015256.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	362/723,327/688,337/698,348/709,,362/723	131309076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131309076G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1011C>T	5.37:g.131309076G>A						ACSL6_ENST00000431707.1_Silent_p.H317H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000544770.1_Silent_p.H246H|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379240.1_Silent_p.H337H|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000379244.1_Silent_p.H337H	p.H362H	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1194	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	337					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.1086C>T																																																																																					0.552	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		21	14	0	0	0	1	0	21	14					A	131309076	G	A	131309076	2	1	406	1	0	0	0	0	0	0	0	1	181	1136	40	1		1	ACSL6	5	131309076	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	94257139	131309076	49606184	14	35587											
PCDHA2	56146	broad.mit.edu	37	chr5	140176522	140176522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaccacggcgaaccagCgttgacagccacggccaccg	13	15	0	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:140176522C>T	ENST00000526136.1	+	1	1973	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	658	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(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)			GGCGAACCAGCGTTGACAGCC	0.662																																						ENST00000526136.1																			0				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						c.(1972-1974)gCg>gTg																																						SO:0001583	missense	0							g.chr5:140176522C>T	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.1973C>T	5.37:g.140176522C>T	ENSP00000431748:p.Ala658Val					PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron	p.A658V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1973	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1973C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	5.092	0.202555	0.09652	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53206	0.63;0.63;0.63	3.91	2.06	0.26882	Cadherin (4);Cadherin-like (1);	1.311660	0.06097	U	0.664734	T	0.37598	0.1009	L	0.31926	0.97	0.09310	N	1	B;B;B	0.21452	0.056;0.04;0.056	B;B;B	0.21708	0.022;0.036;0.022	T	0.31223	-0.9951	10	0.44086	T	0.13	.	6.4388	0.21839	0.3208:0.5932:0.0:0.0861	.	658;658;658	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	658	ENSP00000430584:A658V;ENSP00000367372:A658V;ENSP00000431748:A658V	ENSP00000367372:A658V	A	+	2	0	PCDHA2	140156706	0.001000	0.12720	0.019000	0.16419	0.005000	0.04900	1.480000	0.35464	0.239000	0.21243	-0.151000	0.13558	GCG		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		42	65	0	0	0	1	0	42	65					T	140176522	C	T	140176522	3	4	406	1	0	0	0	0	1	0	0	0	11524	768	27	1	1975	1	PCDHA2	5	140176522	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	8867446	140176522	40738738	15	35588											
FAM71B	153745	broad.mit.edu	37	chr5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctctgttgtacaattgtCgttgcaggtcccccatggag	10	12	1	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						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)			GTACAATTGTCGTTGCAGGTC	0.403																																						ENST00000302938.4																			0				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						c.(88-90)cGa>cAa		family with sequence similarity 71, member B							137	131	133					5																	156593091		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593091C>T		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.89G>A	5.37:g.156593091C>T	ENSP00000305596:p.Arg30Gln						p.R30Q	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	184	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	30					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.89G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	6.047	0.377072	0.11466	.	.	ENSG00000170613	ENST00000302938	T	0.04970	3.52	4.67	2.9	0.33743	.	0.174270	0.35151	N	0.003414	T	0.02929	0.0087	N	0.12887	0.27	0.09310	N	1	P	0.35600	0.511	B	0.23419	0.046	T	0.44877	-0.9299	10	0.38643	T	0.18	-3.3554	8.0345	0.30484	0.0:0.8053:0.0:0.1947	.	30	Q8TC56	FA71B_HUMAN	Q	30	ENSP00000305596:R30Q	ENSP00000305596:R30Q	R	-	2	0	FAM71B	156525669	0.000000	0.05858	0.004000	0.12327	0.097000	0.18754	0.218000	0.17622	0.663000	0.31027	-0.143000	0.13931	CGA		0.403	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		8	128	0	0	0	1	0	8	128					T	156593091	C	T	156593091	3	4	406	1	0	0	0	0	1	0	0	0	5608	884	31	1	1736	1	FAM71B	5	156593091	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	16416569	156593091	24322169	16	35589											
LCP2	3937	broad.mit.edu	37	chr5	169695476	169695476	+	Frame_Shift_Del	DEL	G	G	-													tgctggggggttttcccagaGgggggccggtctgtggaaac							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:169695476delG	ENST00000046794.5	-	8	1149	c.534delC	c.(532-534)cccfs	p.P178fs	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	178					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTTTCCCAGAGGGGGGCCGGT	0.652											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(532-534)ccfs		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							2	2	2					5																	169695476		1282	3176	4458	SO:0001589	frameshift_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169695476delG		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.534delC	5.37:g.169695476delG	ENSP00000046794:p.Pro178fs		OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1879		p.P178fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	8	1149	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	178					A8KA25|Q53XV4	Frame_Shift_Del	DEL	ENST00000046794.5	37	c.534delC	CCDS47339.1																																																																																				0.652	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		2	4						2	4	---	---	---	---	-	169695476	G	-	169695476	7	5	406	1	0	1	0	1	0	0	0	0	8692	987	35	0	1123	0	LCP2	5	169695476	Frame_Shift_Del	DEL	G	TCGA-RY-A83Y-01A-11D-A36O-08	13102385	169695476	11219784	17	35590											
RPL26L1	51121	broad.mit.edu	37	chr5	172395514	172395514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaggtagtccaggtgtAcagaaagaaatatgtcatct	11	6	2	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:172395514A>G	ENST00000521476.1	+	3	345	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	74					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)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCAGGTGTACAGAAAGAAA	0.478																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(220-222)tAc>tGc		ribosomal protein L26-like 1							201	185	191					5																	172395514		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172395514A>G	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"L ribosomal proteins"	17050	protein-coding gene	gene with protein product			"ribosomal protein L26 pseudogene 1"	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.221A>G	5.37:g.172395514A>G	ENSP00000428223:p.Tyr74Cys					RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C	p.Y74C			Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	345	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	74					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.221A>G	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073621	0.76415	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.58	3.36	0.38483	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	H	0.96208	3.785	0.80722	D	1	P	0.52463	0.953	P	0.62382	0.901	D	0.86643	0.1893	9	0.66056	D	0.02	.	10.5786	0.45242	0.9224:0.0:0.0776:0.0	.	74	Q9UNX3	RL26L_HUMAN	C	74	.	ENSP00000265100:Y74C	Y	+	2	0	RPL26L1	172328120	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.885000	0.75606	0.841000	0.35020	0.533000	0.62120	TAC		0.478	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		5	174	0	0	0	1	0	5	174					G	172395514	A	G	172395514	3	3	406	1	0	0	0	0	1	0	0	0	13574	391	14	3	227	3	RPL26L1	5	172395514	Missense_Mutation	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08	2700038	172395514	8519746	18	35591											
MAN1A1	4121	broad.mit.edu	37	chr6	119510998	119510998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccccctttccactctgcGatataagttagtccgctgct	8	14	1	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			2	Substitution - coding silent(2)	p.I459I(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1375-1377)atC>atT		mannosidase, alpha, class 1A, member 1							73	68	70					6																	119510998		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119510998G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1377C>T	6.37:g.119510998G>A							p.I459I	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	10	1818	-		all_epithelial(87;0.173)	459					E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1377C>T	CCDS5122.1																																																																																				0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		7	50	0	0	0	1	0	7	50					A	119510998	G	A	119510998	2	1	406	1	0	0	0	0	0	0	0	1	9210	1048	37	1		1	MAN1A1	6	119510998	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		119510998	51604069	19	35592											
HIVEP2	3097	broad.mit.edu	37	chr6	143091825	143091825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtatctgagaaatgcttgTgtacatgacacttccatagg	9	7	1	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:143091825T>C	ENST00000367604.1	-	4	4690	c.4051A>G	c.(4051-4053)Aca>Gca	p.T1351A	HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A|HIVEP2_ENST00000367603.2_Missense_Mutation_p.T1351A			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1351					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)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAATGCTTGTGTACATGACA	0.498																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4051-4053)Aca>Gca		human immunodeficiency virus type I enhancer binding protein 2							80	78	79					6																	143091825		1999	4176	6175	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091825T>C	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4051A>G	6.37:g.143091825T>C	ENSP00000356576:p.Thr1351Ala					HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1351A|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A	p.T1351A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4793	-			1351					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4051A>G	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075124	0.76415	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.08896	3.04;3.04;3.04	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01127	-1.1443	10	0.87932	D	0	-18.7622	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1351	P31629	ZEP2_HUMAN	A	1351	ENSP00000356576:T1351A;ENSP00000356575:T1351A;ENSP00000012134:T1351A	ENSP00000012134:T1351A	T	-	1	0	HIVEP2	143133518	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.333000	0.79357	0.533000	0.62120	ACA		0.498	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	73	0	0	0	1	0	5	73					C	143091825	T	C	143091825	3	2	406	1	0	0	0	0	1	0	0	0	7187	1696	59	3	3313	3	HIVEP2	6	143091825	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	23580827	143091825	28023242	20	35593											
AUTS2	26053	broad.mit.edu	37	chr7	70231294	70231294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgccatcccacccaccgccAtcatgccgacgccagcacct	6	22	1	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:70231294A>G	ENST00000342771.4	+	9	1984	c.1663A>G	c.(1663-1665)Atc>Gtc	p.I555V	AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	555										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)		ACCCACCGCCATCATGCCGAC	0.617																																						ENST00000342771.4																			0				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						c.(1663-1665)Atc>Gtc		autism susceptibility candidate 2							223	205	211					7																	70231294		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70231294A>G	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.1663A>G	7.37:g.70231294A>G	ENSP00000344087:p.Ile555Val					AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V	p.I555V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	9	1984	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	555					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1663A>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716852	0.30413	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.10573	2.86;2.86	5.56	4.34	0.51931	.	0.279181	0.38663	N	0.001612	T	0.08935	0.0221	L	0.38175	1.15	0.80722	D	1	P;P	0.46395	0.877;0.877	B;B	0.38712	0.28;0.28	T	0.24048	-1.0171	9	.	.	.	-10.0145	12.309	0.54918	0.8588:0.1412:0.0:0.0	.	555;555	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	V	555	ENSP00000385263:I555V;ENSP00000344087:I555V	.	I	+	1	0	AUTS2	69869230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.814000	0.69208	2.114000	0.64651	0.459000	0.35465	ATC		0.617	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			27	32	0	0	0	1	0	27	32					G	70231294	A	G	70231294	3	3	406	1	0	0	0	0	1	0	0	0	1225	217	8	3	1842	3	AUTS2	7	70231294	Missense_Mutation	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08		70231294	88907369	21	35594											
CHPF2	54480	broad.mit.edu	37	chr7	150932567	150932567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttggctacctgttgtcaCggagtctcctgcttcgtctg	11	12	3	0	rs56366346	byFrequency	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:150932567C>T	ENST00000035307.2	+	2	2210	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	233					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGTTGTCACGGAGTCTCCT	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		16335	0.001		0.001	False		,,,				2504	0.0					ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(697-699)Cgg>Tgg		chondroitin polymerizing factor 2							94	88	90					7																	150932567		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932567C>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.697C>T	7.37:g.150932567C>T	ENSP00000035307:p.Arg233Trp					CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W	p.R233W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			2	2210	+			233					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.697C>T	CCDS34779.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.9	4.580036	0.86645	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.39229	1.09;1.09	5.85	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70026	-0.4985	10	0.87932	D	0	-28.1056	16.8326	0.85948	0.1369:0.8631:0.0:0.0	rs56366346	233;225	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	W	225;233;233	ENSP00000418914:R225W;ENSP00000035307:R233W	ENSP00000035307:R233W	R	+	1	2	CHPF2	150563500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.767000	0.95098	0.655000	0.94253	CGG		0.602	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		42	68	0	0	0	1	0	42	68					T	150932567	C	T	150932567	3	4	406	1	0	0	0	0	1	0	0	0	3369	527	19	1	703	1	CHPF2	7	150932567	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	80701273	150932567	8206096	22	35595											
UBE2W	55284	broad.mit.edu	37	chr8	74737473	74737473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtgcaccttccatgTctacaatccacctagaatag	6	13	1	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:74737473T>C	ENST00000602593.1	-	3	171	c.119A>G	c.(118-120)gAc>gGc	p.D40G	RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G|UBE2W_ENST00000517608.1_Missense_Mutation_p.D69G|UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	40					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ACCTTCCATGTCTACAATCCA	0.373																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(205-207)gAc>gGc		ubiquitin-conjugating enzyme E2W (putative)							37	34	35					8																	74737473		1817	4079	5896	SO:0001583	missense	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74737473T>C	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"Ubiquitin-conjugating enzymes E2"	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.119A>G	8.37:g.74737473T>C	ENSP00000473561:p.Asp40Gly					UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G|UBE2W_ENST00000602593.1_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G	p.D69G			Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		3	206	-	Breast(64;0.0311)		40					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Missense_Mutation	SNP	ENST00000602593.1	37	c.206A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.32|16.32	3.089812|3.089812	0.55968|0.55968	.|.	.|.	ENSG00000104343|ENSG00000104343	ENST00000453587;ENST00000517608;ENST00000419880|ENST00000523278	T|.	0.36340|.	1.26|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39517|0.39517	0.1081|0.1081	N|N	0.10733|0.10733	0.035|0.035	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.12156|.	0.005;0.004;0.007|.	T|T	0.34329|0.34329	-0.9833|-0.9833	10|5	0.32370|.	T|.	0.25|.	-7.7464|-7.7464	15.1964|15.1964	0.73092|0.73092	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	40;51;40|.	Q96B02;Q96B02-2;C9JJH0|.	UBE2W_HUMAN;.;.|.	G|A	40;40;51|36	ENSP00000403764:D40G|.	ENSP00000397453:D51G|.	D|T	-|-	2|1	0|0	UBE2W|UBE2W	74900027|74900027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.739000|7.739000	0.84976|0.84976	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.373	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		6	2	0	0	0	1	0	6	2					C	74737473	T	C	74737473	3	2	406	1	0	0	0	0	1	0	0	0	16874	1667	58	3	352	3	UBE2W	8	74737473	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		74737473	71626549	23	35596											
ZFHX4	79776	broad.mit.edu	37	chr8	77761931	77761931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtgtgtctccagactgtgtgGagaagctgcttatgacagta	13	7	1	3	rs368967335	byFrequency	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:77761931G>C	ENST00000521891.2	+	8	4277	c.3829G>C	c.(3829-3831)Gag>Cag	p.E1277Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1232					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)			AGACTGTGTGGAGAAGCTGCT	0.428										HNSCC(33;0.089)																												ENST00000521891.2																			0				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						c.(3829-3831)Gag>Cag		zinc finger homeobox 4							73	67	69					8																	77761931		2008	4197	6205	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761931G>C		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.3829G>C	8.37:g.77761931G>C	ENSP00000430497:p.Glu1277Gln	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q	p.E1277Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		8	4277	+			1232					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3829G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533819	0.64972	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.76;0.74;0.73	4.38	4.38	0.52667	.	0.000000	0.42548	U	0.000690	T	0.43743	0.1261	L	0.39566	1.225	0.80722	D	1	B;B;B	0.30281	0.18;0.275;0.275	B;B;B	0.37422	0.127;0.249;0.249	T	0.25710	-1.0124	10	0.14656	T	0.56	.	17.4736	0.87653	0.0:0.0:1.0:0.0	.	1232;1232;1277	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1277;1277;1232;1232;1251	ENSP00000430497:E1277Q;ENSP00000399605:E1232Q;ENSP00000050961:E1232Q;ENSP00000430848:E1251Q	ENSP00000050961:E1232Q	E	+	1	0	ZFHX4	77924486	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.756000	0.85195	2.417000	0.82017	0.555000	0.69702	GAG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	32	0	0	0	1	0	3	32					C	77761931	G	C	77761931	3	2	406	1	0	0	0	0	1	0	0	0	17632	1175	41	4	3855	4	ZFHX4	8	77761931	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	3024458	77761931	68602091	24	35597											
ZBTB5	9925	broad.mit.edu	37	chr9	37440681	37440682	+	Frame_Shift_Del	DEL	AG	AG	-													tcttgcaatctgtcaaagtcAgaaaagttttgcagcagatt							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:37440681_37440682delAG	ENST00000307750.4	-	2	2055_2056	c.1867_1868delCT	c.(1867-1869)ctgfs	p.L623fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	623					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)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TGTCAAAGTCAGAAAAGTTTTG	0.47																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(1867-1869)gfs		zinc finger and BTB domain containing 5																																				SO:0001589	frameshift_variant	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37440681_37440682delAG	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1867_1868delCT	9.37:g.37440681_37440682delAG	ENSP00000307604:p.Leu623fs						p.L623fs	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	2055_2056	-			623						Frame_Shift_Del	DEL	ENST00000307750.4	37	c.1867_1868delCT	CCDS6610.1																																																																																				0.47	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		32	65						32	65	---	---	---	---	-	37440682	AG	-	37440681	7	5	406	1	0	1	0	1	0	0	0	0	17548	188	7	0	169	0	ZBTB5	9	37440681	Frame_Shift_Del	DEL	AG	TCGA-RY-A83Y-01A-11D-A36O-08		37440681	103772750	25	35598											
TDRD7	23424	broad.mit.edu	37	chr9	100204054	100204054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaaacaagcataacaatgGcatttggatatctaagcttc	6	8	1	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:100204054G>A	ENST00000355295.4	+	6	1047	c.752G>A	c.(751-753)gGc>gAc	p.G251D	TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	251	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CATAACAATGGCATTTGGATA	0.343																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(751-753)gGc>gAc		tudor domain containing 7							94	92	92					9																	100204054		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100204054G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.752G>A	9.37:g.100204054G>A	ENSP00000347444:p.Gly251Asp					TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D	p.G251D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			6	1047	+		Acute lymphoblastic leukemia(62;0.158)	251			Lotus/OST-HTH 2.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.752G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185973	0.78789	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.45668	0.89;0.92	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63686	-0.6581	10	0.87932	D	0	-20.1432	14.4582	0.67431	0.0:0.0:1.0:0.0	.	251	Q8NHU6	TDRD7_HUMAN	D	251;177	ENSP00000347444:G251D;ENSP00000413608:G177D	ENSP00000347444:G251D	G	+	2	0	TDRD7	99243875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.959000	0.76031	2.675000	0.91044	0.655000	0.94253	GGC		0.343	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		28	55	0	0	0	1	0	28	55					A	100204054	G	A	100204054	3	1	406	1	0	0	0	0	1	0	0	0	15732	1203	42	2	770	2	TDRD7	9	100204054	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	62763373	100204054	41009377	26	35599											
PLEKHG6	55200	broad.mit.edu	37	chr12	6425456	6425456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttggaaatgtccccagCctgattcgaacccaccggag	10	13	0	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:6425456C>T	ENST00000396988.3	+	7	872	c.642C>T	c.(640-642)agC>agT	p.S214S	PLEKHG6_ENST00000011684.7_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S|PLEKHG6_ENST00000449001.2_Silent_p.S182S	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATGTCCCCAGCCTGATTCGAA	0.622																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(544-546)agC>agT		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							37	36	36					12																	6425456		2178	4246	6424	SO:0001819	synonymous_variant	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6425456C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.642C>T	12.37:g.6425456C>T						PLEKHG6_ENST00000396988.3_Silent_p.S214S|PLEKHG6_ENST00000011684.7_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S	p.S182S	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			6	1040	+			214			DH.		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	c.546C>T	CCDS8541.1																																																																																				0.622	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		5	0	0	0	0	1	0	5	0					T	6425456	C	T	6425456	2	4	406	1	0	0	0	0	0	0	0	1	12074	738	26	2		2	PLEKHG6	12	6425456	Silent	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		6425456	127426439	27	35600											
KRT75	9119	broad.mit.edu	37	chr12	52826917	52826917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagctgccgtcggagCtcactggtataggaatcaaa	10	11	2	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:52826917C>T	ENST00000252245.5	-	2	838	c.618G>A	c.(616-618)gaG>gaA	p.E206E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	206	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)		GCCGTCGGAGCTCACTGGTAT	0.552																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(616-618)gaG>gaA		keratin 75							113	111	112					12																	52826917		2203	4300	6503	SO:0001819	synonymous_variant	9119					keratin filament	structural molecule activity	g.chr12:52826917C>T	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.618G>A	12.37:g.52826917C>T							p.E206E	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	2	838	-			206			Coil 1B.|Rod.		B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	c.618G>A	CCDS8827.1																																																																																				0.552	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		50	68	0	0	0	1	0	50	68					T	52826917	C	T	52826917	2	4	406	1	0	0	0	0	0	0	0	1	8488	796	28	2		2	KRT75	12	52826917	Silent	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	46401461	52826917	81024978	28	35601											
ATP5B	506	broad.mit.edu	37	chr12	57037371	57037371	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcaccaccaaaaagcCctataagaggttgaaaagaa	7	11	0	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:57037371C>T	ENST00000262030.3	-	5	658	c.608G>A	c.(607-609)gGg>gAg	p.G203E	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Splice_Site_p.G203E|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	203					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAAAAAGCCCTATAAGAGG	0.393																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e5-1		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							53	52	52					12																	57037371		2203	4300	6503	SO:0001630	splice_region_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037371C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.608-1G>A	12.37:g.57037371C>T						ATP5B_ENST00000552919.1_Splice_Site_p.G203_splice	p.G203_splice	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			5	658	-			203					A8K4X0|Q14283	Splice_Site	SNP	ENST00000262030.3	37	c.607_splice	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.196681|5.196681	0.94960|0.94960	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000553007|ENST00000552959	T;T;T;D|.	0.86230|.	-1.34;-1.34;-1.34;-2.09|.	5.95|5.95	5.95|5.95	0.96441|0.96441	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91372|.	0.7278|.	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	P|.	0.50369|.	0.934|.	P|.	0.54590|.	0.756|.	D|.	0.94208|.	0.7456|.	10|.	0.87932|.	D|.	0|.	.|.	19.1503|19.1503	0.93485|0.93485	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	203|.	P06576|.	ATPB_HUMAN|.	E|X	203;203;142;104|139	ENSP00000262030:G203E;ENSP00000450297:G203E;ENSP00000446677:G142E;ENSP00000447571:G104E|.	ENSP00000262030:G203E|.	G|W	-|-	2|3	0|0	ATP5B|ATP5B	55323638|55323638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.688000|7.688000	0.84153|0.84153	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.393	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	Missense_Mutation	27	42	0	0	0	1	0	27	42					T	57037371	C	T	57037371	5	4	406	1	0	0	0	0	0	0	1	0	1148	637	22	2	1005	2	ATP5B	12	57037371	Splice_Site	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	4210454	57037371	76814524	29	35602											
PYGL	5836	broad.mit.edu	37	chr14	51382685	51382685	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttctgggtgagctccCatgcctgggggaaaggaagg	17	8	2	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr14:51382685C>T	ENST00000216392.7	-	10	1429	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366*|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	366					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTGAGCTCCCATGCCTGGGG	0.632																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1096-1098)tGg>tAg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						79	72	74					14																	51382685		2203	4300	6503	SO:0001587	stop_gained	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51382685C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1097G>A	14.37:g.51382685C>T	ENSP00000216392:p.Trp366*					PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366*	p.W366*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			10	1429	-	all_epithelial(31;0.00825)|Breast(41;0.148)		366					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Nonsense_Mutation	SNP	ENST00000216392.7	37	c.1097G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	41	8.610155	0.98884	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.8246	18.7902	0.91971	0.0:1.0:0.0:0.0	.	.	.	.	X	366;332;366	.	ENSP00000216392:W366X	W	-	2	0	PYGL	50452435	1.000000	0.71417	0.998000	0.56505	0.546000	0.35178	7.750000	0.85110	2.752000	0.94435	0.655000	0.94253	TGG		0.632	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		23	32	0	0	0	1	0	23	32					T	51382685	C	T	51382685	4	4	406	1	0	0	0	0	0	1	0	0	12861	595	21	2	1490	2	PYGL	14	51382685	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		51382685	55966855	30	35603											
RASGRP1	10125	broad.mit.edu	37	chr15	38793398	38793398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggtggtctcttggaaGttgtgaggaaagcccaggcc	16	7	1	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:38793398G>T	ENST00000310803.5	-	13	1806	c.1629C>A	c.(1627-1629)aaC>aaA	p.N543K	RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	543					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTCTTGGAAGTTGTGAGGAA	0.522																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1627-1629)aaC>aaA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							90	90	90					15																	38793398		1925	4148	6073	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38793398G>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1629C>A	15.37:g.38793398G>T	ENSP00000310244:p.Asn543Lys					RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K	p.N543K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	13	1806	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	543					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.1629C>A	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355160	0.61293	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159	D;D;D	0.92545	-3.06;-3.06;-3.06	5.29	3.41	0.39046	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	L	0.27944	0.81	0.58432	D	0.999993	P;D;D;D	0.67145	0.939;0.985;0.996;0.995	P;D;D;D	0.70487	0.735;0.944;0.969;0.962	D	0.90557	0.4513	10	0.87932	D	0	-31.9235	8.4606	0.32925	0.2954:0.0:0.7046:0.0	.	508;508;543;508	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	K	543;508;508;508;495	ENSP00000310244:N543K;ENSP00000388540:N508K;ENSP00000444762:N495K	ENSP00000310244:N543K	N	-	3	2	RASGRP1	36580690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.300000	0.51834	0.796000	0.33947	0.655000	0.94253	AAC		0.522	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		25	34	1	0	4.72057e-08	1	4.72057e-08	25	34					T	38793398	G	T	38793398	3	4	406	1	0	0	0	0	1	0	0	0	13074	1020	36	4	784	4	RASGRP1	15	38793398	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		38793398	63737994	31	35604											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107938	42107938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcgtgggcatccgctcGgtgtgtgtcagccccaatgg	14	15	1	0	rs143874014		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42107938G>A	ENST00000456763.2	+	13	1648	c.1452G>A	c.(1450-1452)tcG>tcA	p.S484S	MAPKBP1_ENST00000221214.6_Silent_p.S361S|MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000457542.2_Silent_p.S478S|MAPKBP1_ENST00000260357.7_Silent_p.S317S	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	484										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)		GCATCCGCTCGGTGTGTGTCA	0.597																																						ENST00000457542.2																			0				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						c.(1432-1434)tcG>tcA		mitogen-activated protein kinase binding protein 1		G	,	0,4406		0,0,2203	82	71	74		1452,1434	-1	1	15	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MAPKBP1	NM_001128608.1,NM_014994.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	484/1515,478/1509	42107938	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42107938G>A	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.1452G>A	15.37:g.42107938G>A						MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000456763.2_Silent_p.S484S|MAPKBP1_ENST00000260357.7_Silent_p.S317S|MAPKBP1_ENST00000221214.6_Silent_p.S361S	p.S478S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		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)	12	1720	+		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)	484					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1434G>A	CCDS45239.1																																																																																				0.597	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		18	19	0	0	0	1	0	18	19					A	42107938	G	A	42107938	2	1	406	1	0	0	0	0	0	0	0	1	9292	1103	39	1		1	MAPKBP1	15	42107938	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	3314540	42107938	60423454	32	35605											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacactcaactctagcaCgttctaggggagaaggaagg	12	9	3	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42298316C>T	ENST00000399518.3	-	4	883	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	115	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(397-399)Gtg>Atg		phospholipase A2, group IVE							122	124	123					15																	42298316		2086	4226	6312	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298316C>T		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.397G>A	15.37:g.42298316C>T	ENSP00000382434:p.Val133Met					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M	p.V133M	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	4	883	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	115			C2.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.397G>A	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298110	0.60086	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.41065	1.01;2.89	5.66	3.6	0.41247	.	0.173268	0.29286	U	0.012599	T	0.54029	0.1833	M	0.69358	2.11	0.34580	D	0.714372	D	0.61697	0.99	P	0.60117	0.869	T	0.65569	-0.6136	10	0.87932	D	0	-5.6365	7.528	0.27666	0.0:0.6507:0.0:0.3493	.	104	C9JK77	.	M	133;104	ENSP00000382434:V133M;ENSP00000413897:V104M	ENSP00000382434:V133M	V	-	1	0	PLA2G4E	40085608	0.069000	0.21087	0.786000	0.31890	0.973000	0.67179	0.254000	0.18314	0.625000	0.30304	0.563000	0.77884	GTG		0.507	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		25	39	0	0	0	1	0	25	39					T	42298316	C	T	42298316	3	4	406	1	0	0	0	0	1	0	0	0	12005	536	19	1	2277	1	PLA2G4E	15	42298316	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	190378	42298316	60233076	33	35606											
SEMA7A	8482	broad.mit.edu	37	chr15	74708176	74708176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaccatagaccctggtgtCcctccactggccgctggggt	11	15	0	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:74708176C>T	ENST00000261918.4	-	8	1500	c.952G>A	c.(952-954)Gac>Aac	p.D318N	SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						ACCCTGGTGTCCCTCCACTGG	0.592																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(952-954)Gac>Aac		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							96	78	84					15																	74708176		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74708176C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.952G>A	15.37:g.74708176C>T	ENSP00000261918:p.Asp318Asn					SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N	p.D318N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			8	1500	-			318			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.952G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130696	0.56828	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.24151	1.87;1.87;1.87	4.8	2.78	0.32641	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.426837	0.26788	N	0.022495	T	0.10035	0.0246	N	0.17248	0.465	0.44024	D	0.996746	P;P	0.44734	0.705;0.842	B;B	0.36378	0.143;0.223	T	0.19257	-1.0311	10	0.02654	T	1	-31.0823	8.116	0.30944	0.1549:0.7598:0.0:0.0852	.	304;318	F5H1S0;O75326	.;SEM7A_HUMAN	N	318;304;153	ENSP00000261918:D318N;ENSP00000438966:D304N;ENSP00000441493:D153N	ENSP00000261918:D318N	D	-	1	0	SEMA7A	72495229	0.850000	0.29656	0.979000	0.43373	0.929000	0.56500	1.281000	0.33214	1.139000	0.42245	0.655000	0.94253	GAC		0.592	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		8	22	0	0	0	1	0	8	22					T	74708176	C	T	74708176	3	4	406	1	0	0	0	0	1	0	0	0	14043	855	30	2	1076	2	SEMA7A	15	74708176	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	32409860	74708176	27823216	34	35607											
NTRK3	4916	broad.mit.edu	37	chr15	88576211	88576211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacgagggcgtggtgaTgccgtggttgatgtggtgca	19	6	0	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:88576211T>C	ENST00000360948.2	-	13	1623	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V|NTRK3_ENST00000394480.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	488					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCGTGGTGATGCCGTGGTTG	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1462-1464)Atc>Gtc		neurotrophic tyrosine kinase, receptor, type 3							101	63	76					15																	88576211		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576211T>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1462A>G	15.37:g.88576211T>C	ENSP00000354207:p.Ile488Val	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V|NTRK3_ENST00000360948.2_Missense_Mutation_p.I488V|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V	p.I488V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1783	-			488					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1462A>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407938	0.42715	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73047	-0.71;-0.67;-0.67;-0.71;-0.59;0.14;0.14	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	N	0.22421	0.69	0.58432	D	0.999995	B;B;B;B;B;B	0.30406	0.048;0.144;0.008;0.278;0.135;0.014	B;B;B;B;B;B	0.27500	0.022;0.037;0.007;0.053;0.08;0.007	T	0.58736	-0.7584	10	0.45353	T	0.12	.	13.9137	0.63883	0.0:0.0:0.0:1.0	.	390;480;480;488;488;488	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	V	488;488;480;488;390;488;488	ENSP00000377990:I488V;ENSP00000354207:I488V;ENSP00000350356:I480V;ENSP00000347397:I488V;ENSP00000437773:I390V;ENSP00000444673:I488V;ENSP00000318328:I488V	ENSP00000318328:I488V	I	-	1	0	NTRK3	86377215	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.776000	0.68924	2.061000	0.61500	0.528000	0.53228	ATC		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				18	13	0	0	0	1	0	18	13					C	88576211	T	C	88576211	3	2	406	1	0	0	0	0	1	0	0	0	10708	1464	51	3	1347	3	NTRK3	15	88576211	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	13868035	88576211	13955181	35	35608											
OR1G1	8390	broad.mit.edu	37	chr17	3029996	3029996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagataaagggattcaacaTtggagttaccactgtgtaca	10	6	1	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:3029996T>C	ENST00000328890.2	-	1	879	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	284					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)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGATTCAACATTGGAGTTACC	0.428																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(850-852)Atg>Gtg		olfactory receptor, family 1, subfamily G, member 1							85	79	81					17																	3029996		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3029996T>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.850A>G	17.37:g.3029996T>C	ENSP00000331545:p.Met284Val						p.M284V	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	879	-			284					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.850A>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018928	0.35606	.	.	ENSG00000183024	ENST00000328890	T	0.36878	1.23	4.64	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27205	0.0667	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	9	0.66056	D	0.02	.	4.5681	0.12196	0.0:0.2713:0.3368:0.3919	.	284	P47890	OR1G1_HUMAN	V	284	ENSP00000331545:M284V	ENSP00000331545:M284V	M	-	1	0	OR1G1	2976746	0.000000	0.05858	0.125000	0.21846	0.873000	0.50193	-1.679000	0.01940	0.016000	0.14998	0.427000	0.28365	ATG		0.428	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			4	63	0	0	0	1	0	4	63					C	3029996	T	C	3029996	3	2	406	1	0	0	0	0	1	0	0	0	10957	1493	52	3	95	3	OR1G1	17	3029996	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		3029996	78165214	36	35609											
KIAA0753	9851	broad.mit.edu	37	chr17	6524258	6524259	+	Frame_Shift_Del	DEL	CA	CA	-													aggaaatctgctccgaatttCactgaaacattttttcacct							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:6524258_6524259delCA	ENST00000361413.3	-	7	1522_1523	c.1164_1165delTG	c.(1162-1167)agtgaafs	p.SE388fs	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	388						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTCCGAATTTCACTGAAACATT	0.441																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1162-1167)agaafs		KIAA0753																																				SO:0001589	frameshift_variant	9851					centrosome		g.chr17:6524258_6524259delCA		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1164_1165delTG	17.37:g.6524258_6524259delCA	ENSP00000355250:p.Ser388fs					KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs	p.SE388fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	7	1522_1523	-			388					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Frame_Shift_Del	DEL	ENST00000361413.3	37	c.1164_1165delTG	CCDS42247.1																																																																																				0.441	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		43	79						43	79	---	---	---	---	-	6524259	CA	-	6524258	7	5	406	1	0	1	0	1	0	0	0	0	8191	835	29	0	1790	0	KIAA0753	17	6524258	Frame_Shift_Del	DEL	CA	TCGA-RY-A83Y-01A-11D-A36O-08	3494262	6524258	74670952	37	35610											
KLHL10	317719	broad.mit.edu	37	chr17	40001799	40001799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaacttggcatcaggTggccccgatgcactccagac	10	13	1	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:40001799T>C	ENST00000293303.4	+	3	1259	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	369					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGGCATCAGGTGGCCCCGATG	0.438																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1105-1107)gTg>gCg		kelch-like family member 10							103	102	103					17																	40001799		1965	4147	6112	SO:0001583	missense	317719					cytoplasm		g.chr17:40001799T>C	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1106T>C	17.37:g.40001799T>C	ENSP00000293303:p.Val369Ala						p.V369A	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1259	+		Breast(137;0.000162)	369					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1106T>C	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174246	0.78452	.	.	ENSG00000161594	ENST00000293303	T	0.78924	-1.22	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.65498	2.005	0.58432	D	0.999996	P;P	0.48089	0.905;0.901	B;P	0.53224	0.416;0.721	T	0.82896	-0.0230	9	.	.	.	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	363;369	B4DXV2;Q6JEL2	.;KLH10_HUMAN	A	369	ENSP00000293303:V369A	.	V	+	2	0	KLHL10	37255325	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.436000	0.80404	2.371000	0.80710	0.533000	0.62120	GTG		0.438	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		38	74	0	0	0	1	0	38	74					C	40001799	T	C	40001799	3	2	406	1	0	0	0	0	1	0	0	0	8366	1696	59	3	1116	3	KLHL10	17	40001799	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	33477541	40001799	41193411	38	35611											
SMARCD2	6603	broad.mit.edu	37	chr17	61911857	61911857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatccagcatgagcaggaGggtgcacttgacgttgaggt	15	7	0	4			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:61911857G>A	ENST00000448276.2	-	7	1163	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	300					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ATGAGCAGGAGGGTGCACTTG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(898-900)Ctc>Ttc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							157	152	153					17																	61911857		2033	4202	6235	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911857G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.898C>T	17.37:g.61911857G>A	ENSP00000392617:p.Leu300Phe		OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1057	SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F	p.L300F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			7	1163	-			300					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.898C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	9.763	1.170598	0.21621	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T;T	0.75260	0.81;-0.92;0.81	5.53	4.56	0.56223	SWIB/MDM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.982;1.0;1.0	P;D;D	0.78314	0.608;0.991;0.991	T	0.79065	-0.1956	10	0.72032	D	0.01	-29.2791	6.9807	0.24702	0.0845:0.0:0.7414:0.174	.	252;263;300	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	300;242;263;252	ENSP00000392617:L300F;ENSP00000225742:L242F;ENSP00000318451:L252F	ENSP00000225742:L242F	L	-	1	0	SMARCD2	59265589	0.774000	0.28592	1.000000	0.80357	0.629000	0.37895	1.120000	0.31271	1.559000	0.49555	-0.195000	0.12781	CTC		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		41	83	0	0	0	1	0	41	83					A	61911857	G	A	61911857	3	1	406	1	0	0	0	0	1	0	0	0	14778	1000	35	2	725	2	SMARCD2	17	61911857	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	21910058	61911857	19283353	39	35612											
CASKIN2	57513	broad.mit.edu	37	chr17	73498194	73498194	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccgcttaacagtgtcTgattccgtgaggttgaaatc	11	10	1	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:73498194T>C	ENST00000321617.3	-	18	3547	c.2961A>G	c.(2959-2961)tcA>tcG	p.S987S	CASKIN2_ENST00000433559.2_Silent_p.S905S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	987	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)			TAACAGTGTCTGATTCCGTGA	0.677																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2959-2961)tcA>tcG		CASK interacting protein 2							23	33	29					17																	73498194		2176	4261	6437	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498194T>C	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.2961A>G	17.37:g.73498194T>C						CASKIN2_ENST00000433559.2_Silent_p.S905S	p.S987S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3547	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		987			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2961A>G	CCDS11723.1																																																																																				0.677	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		18	22	0	0	0	1	0	18	22					C	73498194	T	C	73498194	2	2	406	1	0	0	0	0	0	0	0	1	2667	1567	55	3		3	CASKIN2	17	73498194	Silent	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	11586337	73498194	7697016	40	35613											
CIC	23152	broad.mit.edu	37	chr19	42794540	42794550	+	Frame_Shift_Del	DEL	TTCCTCCTCAG	TTCCTCCTCAG	-													tcctctgcgtcctcgcctgcTtcctcctcagcctcggcagc							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr19:42794540_42794550delTTCCTCCTCAG	ENST00000575354.2	+	10	1660_1670	c.1620_1630delTTCCTCCTCAG	c.(1618-1632)gcttcctcctcagccfs	p.ASSSA540fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.ASSSA1449fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	540	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)				CCTCGCCTGCTTCCTCCTCAGCCTCGGCAGC	0.687			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(4345-4359)gcccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794540_42794550delTTCCTCCTCAG	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.1620_1630delTTCCTCCTCAG	19.37:g.42794540_42794550delTTCCTCCTCAG	ENSP00000458663:p.Ala540fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.ASSSA540fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs	p.ASSSA1449fs			Q96RK0	CIC_HUMAN			11	4415_4425	+		Prostate(69;0.00682)	540					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4347_4357delTTCCTCCTCAG	CCDS12601.1																																																																																				0.687	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			26	11						26	11	---	---	---	---	-	42794550	TTCCTCCTCAG	-	42794540	7	5	406	1	0	1	0	1	0	0	0	0	3424	1596	56	0	1658	0	CIC	19	42794540	Frame_Shift_Del	DEL	TTCCTCCTCAG	TCGA-RY-A83Y-01A-11D-A36O-08		42794540	16334443	41	35614											
FERMT1	55612	broad.mit.edu	37	chr20	6078223	6078223	+	Frame_Shift_Del	DEL	A	A	-													ctgtgcaatcaatttcttctAagagaatggcccacctggct							TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr20:6078223delA	ENST00000217289.4	-	7	1693	c.905delT	c.(904-906)ttafs	p.L302fs	FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	302	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATTTCTTCTAAGAGAATGGC	0.403																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17	GRCh37	CM040274	FERMT1	M		c.(904-906)tafs		fermitin family member 1							144	136	138					20																	6078223		2203	4300	6503	SO:0001589	frameshift_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6078223delA	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.905delT	20.37:g.6078223delA	ENSP00000217289:p.Leu302fs					FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs	p.L302fs	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			7	1693	-			302			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Frame_Shift_Del	DEL	ENST00000217289.4	37	c.905delT	CCDS13098.1																																																																																				0.403	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		43	54						43	54	---	---	---	---	-	6078223	A	-	6078223	7	5	406	1	0	1	0	1	0	0	0	0	5817	372	13	0	1164	0	FERMT1	20	6078223	Frame_Shift_Del	DEL	A	TCGA-RY-A83Y-01A-11D-A36O-08		6078223	56947297	42	35615											
CPXCR1	53336	broad.mit.edu	37	chrX	88008826	88008826	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcgactttcaacttcAtggagagtcccatttattaa	6	9	2	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chrX:88008826A>G	ENST00000276127.4	+	3	670	c.411A>G	c.(409-411)tcA>tcG	p.S137S	CPXCR1_ENST00000373111.1_Silent_p.S137S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	137							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCAACTTCATGGAGAGTCC	0.388																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(409-411)tcA>tcG		CPX chromosome region, candidate 1							52	46	48					X																	88008826		2203	4300	6503	SO:0001819	synonymous_variant	53336					intracellular	zinc ion binding	g.chrX:88008826A>G	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.411A>G	X.37:g.88008826A>G						CPXCR1_ENST00000373111.1_Silent_p.S137S	p.S137S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	670	+			137					B2R9F9|D3DTE7|Q96RS3	Silent	SNP	ENST00000276127.4	37	c.411A>G	CCDS14458.1																																																																																				0.388	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		26	9	0	0	0	1	0	26	9					G	88008826	A	G	88008826	2	3	406	1	0	0	0	0	0	0	0	1	3836	204	8	3		3	CPXCR1	23	88008826	Silent	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08		88008826	67261734	43	35616											
USP24	23358	broad.mit.edu	37	chr1	55561033	55561033	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaaaagcatataggcaTtccagtatcttcggcgcaca	10	9	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:55561033T>G	ENST00000294383.6	-	51	6097	c.6098A>C	c.(6097-6099)aAt>aCt	p.N2033T	USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2033	USP.				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						CATATAGGCATTCCAGTATCT	0.403																																						ENST00000294383.6																			0				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						c.(6097-6099)aAt>aCt		ubiquitin specific peptidase 24							77	78	77					1																	55561033		2201	4299	6500	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55561033T>G	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.6098A>C	1.37:g.55561033T>G	ENSP00000294383:p.Asn2033Thr					USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	p.N2033T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			51	6097	-			2033					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6098A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868206	0.91587	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.28454	1.61;1.61	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.85299	2.745	0.58432	D	0.999999	D	0.61080	0.989	P	0.57244	0.816	T	0.63989	-0.6512	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1873	B7WPF4	.	T	2033;1873	ENSP00000294383:N2033T;ENSP00000385700:N1873T	ENSP00000294383:N2033T	N	-	2	0	USP24	55333621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.313000	0.78055	0.455000	0.32223	AAT		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	11	0	0	0	1	0	8	11					G	55561033	T	G	55561033	3	3	407	1	0	0	0	0	1	0	0	0	17052	1493	52	5	1836	5	USP24	1	55561033	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		55561033	193689588	1	35617											
BCL9	607	broad.mit.edu	37	chr1	147091170	147091170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcagaaaaaaccagaAgggccaatacaggccatgat	11	10	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:147091170A>C	ENST00000234739.3	+	8	1949	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	403	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)					AAAAACCAGAAGGGCCAATAC	0.542			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1207-1209)gaA>gaC		B-cell CLL/lymphoma 9							53	64	61					1																	147091170		2202	4299	6501	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091170A>C	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.1209A>C	1.37:g.147091170A>C	ENSP00000234739:p.Glu403Asp						p.E403D	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1949	+	all_hematologic(923;0.115)		403			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1209A>C	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967638	0.53507	.	.	ENSG00000116128	ENST00000234739	T	0.75154	-0.91	5.16	2.81	0.32909	.	0.097194	0.64402	N	0.000001	T	0.73505	0.3595	M	0.61703	1.905	0.34117	D	0.663687	D;D	0.63880	0.993;0.993	D;D	0.70016	0.967;0.967	T	0.74318	-0.3704	10	0.59425	D	0.04	-7.7526	7.4134	0.27029	0.8022:0.0:0.0699:0.1279	.	403;403	Q1JQ81;O00512	.;BCL9_HUMAN	D	403	ENSP00000234739:E403D	ENSP00000234739:E403D	E	+	3	2	BCL9	145557794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.411000	0.52672	0.501000	0.28013	0.529000	0.55759	GAA		0.542	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		31	51	0	0	0	1	0	31	51					C	147091170	A	C	147091170	3	2	407	1	0	0	0	0	1	0	0	0	1381	69	3	5	1227	5	BCL9	1	147091170	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	91530137	147091170	102159451	2	35618											
CR1	1378	broad.mit.edu	37	chr1	207741294	207741294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccagacagagggacgagcTtcgacctcattggagagagc	13	11	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:207741294T>C	ENST00000367049.4	+	25	4078	c.4078T>C	c.(4078-4080)Ttc>Ctc	p.F1360L	CR1_ENST00000367053.1_Missense_Mutation_p.F910L|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	910	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGGACGAGCTTCGACCTCAT	0.532																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4078-4080)Ttc>Ctc		complement component (3b/4b) receptor 1 (Knops blood group)							98	117	111					1																	207741294		1826	4089	5915	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741294T>C	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4078T>C	1.37:g.207741294T>C	ENSP00000356016:p.Phe1360Leu					RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.F910L|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367052.1_Intron	p.F1360L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			25	4078	+			910			Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4078T>C	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	t	10.26	1.301554	0.23736	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	2.73	1.61	0.23674	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.45216	0.1331	M	0.81341	2.54	0.09310	N	1	D;B;B;B	0.69078	0.997;0.409;0.035;0.331	D;B;B;B	0.71870	0.975;0.241;0.039;0.103	T	0.18713	-1.0328	9	0.48119	T	0.1	.	4.4297	0.11522	0.0:0.1587:0.0:0.8413	.	910;460;910;1360	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	L	910;910;910;1360	ENSP00000356018:F910L;ENSP00000356020:F910L;ENSP00000383744:F910L;ENSP00000356016:F1360L	ENSP00000356016:F1360L	F	+	1	0	CR1	205807917	0.007000	0.16637	0.003000	0.11579	0.041000	0.13682	0.920000	0.28705	0.490000	0.27771	0.402000	0.26972	TTC		0.532	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		46	98	0	0	0	1	0	46	98					C	207741294	T	C	207741294	3	2	407	1	0	0	0	0	1	0	0	0	3840	1609	56	3	4176	3	CR1	1	207741294	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	60650124	207741294	41509327	3	35619											
ADRA2B	151	broad.mit.edu	37	chr2	96780731	96780733	+	In_Frame_Del	DEL	GAA	GAA	-													atggctcccaggctgtagctGaagaagaaggggaaccagca							TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:96780731_96780733delGAA	ENST00000409345.3	-	1	1251_1253	c.1156_1158delTTC	c.(1156-1158)ttcdel	p.F386del		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	386					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|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)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|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)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCTGTAGCTGAAGAAGAAGGGG	0.596																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1156-1158)del		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)																																			SO:0001651	inframe_deletion	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780731_96780733delGAA	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1156_1158delTTC	2.37:g.96780737_96780739delGAA	ENSP00000387281:p.Phe386del						p.F386del	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1251_1253	-			389					Q4TUH9|Q53RF2|Q9BZK0	In_Frame_Del	DEL	ENST00000409345.3	37	c.1156_1158delTTC	CCDS56129.1																																																																																				0.596	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			12	17						12	17	---	---	---	---	-	96780733	GAA	-	96780731	7	5	407	1	0	1	0	1	0	0	0	0	338	1281	45	0	189	0	ADRA2B	2	96780731	In_Frame_Del	DEL	GAA	TCGA-RY-A83Z-01A-11D-A36O-08		96780731	146418642	4	35620											
TTN	7273	broad.mit.edu	37	chr2	179400060	179400060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttattttcagctattaccCggaactggtaacttgttttt	6	7	1	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179400060C>T	ENST00000591111.1	-	308	96583	c.96359G>A	c.(96358-96360)cGg>cAg	p.R32120Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33761Q|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32120	Fibronectin type-III 132. {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)	p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(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)			AGCTATTACCCGGAACTGGTA	0.418																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(1)	lung(5)	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						c.(101281-101283)cGg>cAg		titin							138	128	131					2																	179400060		1846	4106	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400060C>T	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.96359G>A	2.37:g.179400060C>T	ENSP00000465570:p.Arg32120Gln					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32120Q|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.R33761Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	101506	-			32120					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	ENST00000591111.1	37	c.101282G>A		.	.	.	.	.	.	.	.	.	.	C	17.88	3.497958	0.64186	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.52	4.65	0.58169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77532	0.4144	M	0.82323	2.585	0.51482	D	0.999928	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81822	-0.0756	9	0.87932	D	0	.	14.8904	0.70604	0.0:0.9306:0.0:0.0694	.	24696;24821;24888;32120	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31193;24696;24888;24821;24693	ENSP00000343764:R31193Q;ENSP00000434586:R24696Q;ENSP00000340554:R24888Q;ENSP00000352154:R24821Q	ENSP00000340554:R24888Q	R	-	2	0	TTN	179108306	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.060000	0.57477	1.472000	0.48140	-0.252000	0.11476	CGG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	138	0	0	0	1	0	6	138					T	179400060	C	T	179400060	3	4	407	1	0	0	0	0	1	0	0	0	16732	652	23	1	6717	1	TTN	2	179400060	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	82619329	179400060	63799313	5	35621											
TTN	7273	broad.mit.edu	37	chr2	179437479	179437479	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccatggtcccgggcccacttCacctcaggtgcaggccttcc	10	18	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179437479C>G	ENST00000591111.1	-	276	68681	c.68457G>C	c.(68455-68457)gtG>gtC	p.V22819V	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V24460V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22819	Ig-like 117.				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)			GGGCCCACTTCACCTCAGGTG	0.463																																						ENST00000589042.1																			0				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						c.(73378-73380)gtG>gtC		titin							85	86	86					2																	179437479		1911	4112	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437479C>G	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.68457G>C	2.37:g.179437479C>G						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V22819V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.V24460V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	73604	-			22819			Fibronectin type-III 78.		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	ENST00000591111.1	37	c.73380G>C																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	88	0	0	0	1	0	5	88					G	179437479	C	G	179437479	2	3	407	1	0	0	0	0	0	0	0	1	16732	813	29	4		4	TTN	2	179437479	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	37419	179437479	63761894	6	35622											
FSIP2	401024	broad.mit.edu	37	chr2	186670584	186670584	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacaggtgtgacaaataaAaaggaagtggatgaaaataa	11	3	0	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:186670584A>G	ENST00000424728.1	+	17	16551	c.16551A>G	c.(16549-16551)aaA>aaG	p.K5517K	FSIP2_ENST00000343098.5_Silent_p.K5606K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5517										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGACAAATAAAAAGGAAGTGG	0.348																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16816-16818)aaA>aaG		fibrous sheath interacting protein 2							73	73	73					2																	186670584		1836	4075	5911	SO:0001819	synonymous_variant	401024							g.chr2:186670584A>G	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.16551A>G	2.37:g.186670584A>G						FSIP2_ENST00000424728.1_Silent_p.K5517K	p.K5606K	NM_173651.2	NP_775922.2					17	16818	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.16818A>G																																																																																					0.348	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		26	38	0	0	0	1	0	26	38					G	186670584	A	G	186670584	2	3	407	1	0	0	0	0	0	0	0	1	6075	11	1	3		3	FSIP2	2	186670584	Silent	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	7233105	186670584	56528789	7	35623											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	61	0	0	0	1	0	35	61					T	209113112	C	T	209113112	3	4	407	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	22442528	209113112	34086261	8	35624											
FANCD2	2177	broad.mit.edu	37	chr3	10134979	10134979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctccaggtatttgataGtcatcctgttctgcatgtat	7	10	3	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr3:10134979G>A	ENST00000419585.1	+	39	4021	c.3860G>A	c.(3859-3861)aGt>aAt	p.S1287N	FANCD2_ENST00000287647.3_Missense_Mutation_p.S1287N|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1287					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)	p.S1287I(1)		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)		GTATTTGATAGTCATCCTGTT	0.478			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			1	Substitution - Missense(1)	p.S1287I(1)	large_intestine(1)	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						c.(3859-3861)aGt>aAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							197	180	186					3																	10134979		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10134979G>A	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.3860G>A	3.37:g.10134979G>A	ENSP00000398754:p.Ser1287Asn					FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1287N|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N|FANCD2OS_ENST00000524279.1_Intron	p.S1287N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	39	3953	+			1287					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3860G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043221	0.75732	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.59224	0.28;0.28;0.28	5.61	5.61	0.85477	.	0.089102	0.85682	D	0.000000	T	0.76564	0.4005	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.76266	-0.3022	10	0.44086	T	0.13	.	17.1896	0.86875	0.0:0.0:1.0:0.0	.	1287;1287	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1287	ENSP00000287647:S1287N;ENSP00000373318:S1287N;ENSP00000398754:S1287N	ENSP00000287647:S1287N	S	+	2	0	FANCD2	10109979	1.000000	0.71417	0.940000	0.37924	0.901000	0.52897	3.781000	0.55394	2.659000	0.90383	0.650000	0.86243	AGT		0.478	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			37	61	0	0	0	1	0	37	61					A	10134979	G	A	10134979	3	1	407	1	0	0	0	0	1	0	0	0	5665	1029	36	2	4010	2	FANCD2	3	10134979	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		10134979	187887451	9	35625											
SH3TC1	54436	broad.mit.edu	37	chr4	8228808	8228808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggctgcccccaggagCcagcgtcctggggtctctgt	14	16	1	0	rs371734585		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:8228808C>T	ENST00000245105.3	+	12	1454	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P387S|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	463										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCCAGGAGCCAGCGTCCTG	0.617																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1159-1161)Cca>Tca		SH3 domain and tetratricopeptide repeats 1							35	39	38					4																	8228808		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8228808C>T	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.1387C>T	4.37:g.8228808C>T	ENSP00000245105:p.Pro463Ser					SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.P463S	p.P387S			Q8TE82	S3TC1_HUMAN			12	1533	+			463					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1159C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	7.801	0.713586	0.15306	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75154	-0.91;-0.9	4.62	2.59	0.31030	.	1.256680	0.05279	N	0.518998	T	0.65260	0.2674	L	0.44542	1.39	0.09310	N	1	B	0.32425	0.371	B	0.35240	0.198	T	0.55042	-0.8202	10	0.19590	T	0.45	-2.6108	4.2377	0.10634	0.1608:0.5956:0.156:0.0876	.	463	Q8TE82	S3TC1_HUMAN	S	201;463;387;292	ENSP00000245105:P463S;ENSP00000441045:P387S	ENSP00000245105:P463S	P	+	1	0	SH3TC1	8279708	0.000000	0.05858	0.495000	0.27527	0.459000	0.32528	-0.158000	0.10070	2.136000	0.66102	0.556000	0.70494	CCA		0.617	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		15	27	0	0	0	1	0	15	27					T	8228808	C	T	8228808	3	4	407	1	0	0	0	0	1	0	0	0	14261	739	26	2	1429	2	SH3TC1	4	8228808	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		8228808	182925468	10	35626											
UGT2B7	7364	broad.mit.edu	37	chr4	69962277	69962277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtaattttgctaatacaActgagcttttgctttagctc	6	8	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:69962277A>G	ENST00000508661.1	+	1	66	c.39A>G	c.(37-39)caA>caG	p.Q13Q	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Silent_p.Q13Q			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	13					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)	TGCTAATACAACTGAGCTTTT	0.413																																						ENST00000305231.7																			0				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						c.(37-39)caA>caG		UDP glucuronosyltransferase 2 family, polypeptide B7							136	135	136					4																	69962277		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962277A>G	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.39A>G	4.37:g.69962277A>G						UGT2B7_ENST00000508661.1_Silent_p.Q13Q|UGT2B7_ENST00000509763.1_Intron	p.Q13Q	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	85	+			13					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.39A>G																																																																																					0.413	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		4	106	0	0	0	1	0	4	106					G	69962277	A	G	69962277	2	3	407	1	0	0	0	0	0	0	0	1	16959	40	2	3		3	UGT2B7	4	69962277	Silent	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	61733469	69962277	121191999	11	35627											
ADAD1	132612	broad.mit.edu	37	chr4	123301233	123301233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggtgagaaaatggctagCaacaatcattggtttcagag	11	6	2	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:123301233C>A	ENST00000296513.2	+	3	194	c.9C>A	c.(7-9)agC>agA	p.S3R	ADAD1_ENST00000388725.2_Intron|ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	3					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGGCTAGCAACAATCATT	0.448																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(7-9)agC>agA		adenosine deaminase domain containing 1 (testis-specific)							49	46	47					4																	123301233		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123301233C>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.9C>A	4.37:g.123301233C>A	ENSP00000296513:p.Ser3Arg					ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R|ADAD1_ENST00000388725.2_Intron	p.S3R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			3	194	+			3					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.9C>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897493	0.33535	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724	T;T	0.32753	1.44;1.44	5.22	0.838	0.18902	.	0.991531	0.08196	N	0.983081	T	0.16599	0.0399	N	0.19112	0.55	0.19945	N	0.999949	P;B	0.36909	0.573;0.112	B;B	0.32289	0.143;0.058	T	0.18587	-1.0332	10	0.52906	T	0.07	1.1928	4.2597	0.10735	0.1635:0.4708:0.0:0.3658	.	3;3	Q96M93-2;Q96M93	.;ADAD1_HUMAN	R	3	ENSP00000296513:S3R;ENSP00000373376:S3R	ENSP00000296513:S3R	S	+	3	2	ADAD1	123520683	0.997000	0.39634	0.399000	0.26333	0.779000	0.44077	0.353000	0.20130	0.186000	0.20125	0.555000	0.69702	AGC		0.448	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		11	19	1	0	0.000151284	1	0.000153199	11	19					A	123301233	C	A	123301233	3	1	407	1	0	0	0	0	1	0	0	0	231	709	25	4	11	4	ADAD1	4	123301233	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	53338956	123301233	67853043	12	35628											
IL31RA	133396	broad.mit.edu	37	chr5	55212675	55212675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgggtatgtgacctgCcccttcaggcctgattgtcc	11	11	1	3	rs140132589	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:55212675C>T	ENST00000447346.2	+	15	2087	c.2022C>T	c.(2020-2022)tgC>tgT	p.C674C	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	642					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)				ATGTGACCTGCCCCTTCAGGC	0.483																																						ENST00000447346.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(2020-2022)tgC>tgT		interleukin 31 receptor A		C	,,,,	0,4406		0,0,2203	55	61	59		1965,,,1596,2022	-3.1	0	5	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	IL31RA	NM_001242636.1,NM_001242637.1,NM_001242638.1,NM_001242639.1,NM_139017.5	,,,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,,,	655/746,,,532/623,674/765	55212675	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55212675C>T	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.2022C>T	5.37:g.55212675C>T						IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C	p.C674C	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN			15	2087	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	642					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.2022C>T	CCDS3970.2																																																																																				0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		18	24	0	0	0	1	0	18	24					T	55212675	C	T	55212675	2	4	407	1	0	0	0	0	0	0	0	1	7691	747	26	2		2	IL31RA	5	55212675	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		55212675	125702585	13	35629											
C5orf35	133383	broad.mit.edu	37	chr5	56207034	56207034	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaatccaaagacaaagTtatctcagatgaagatgtcc	9	7	1	5			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:56207034T>G	ENST00000285947.2	+	2	523	c.137T>G	c.(136-138)gTt>gGt	p.V46G	SETD9_ENST00000541720.1_Missense_Mutation_p.V46G|AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	46							methyltransferase activity (GO:0008168)										AAAGACAAAGTTATCTCAGAT	0.368																																						ENST00000285947.2																			0											c.(136-138)gTt>gGt		SET domain containing 9							45	48	47					5																	56207034		2201	4300	6501	SO:0001583	missense	133383							g.chr5:56207034T>G	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.137T>G	5.37:g.56207034T>G	ENSP00000285947:p.Val46Gly					SETD9_ENST00000541720.1_Missense_Mutation_p.V46G|SETD9_ENST00000475908.1_Intron	p.V46G	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN			2	523	+			46					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.137T>G	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138652	0.56936	.	.	ENSG00000155542	ENST00000285947;ENST00000541720;ENST00000423328	T;T	0.35789	1.29;1.29	5.3	4.15	0.48705	.	0.516357	0.19966	N	0.102119	T	0.29783	0.0744	L	0.40543	1.245	0.43657	D	0.996075	P	0.35383	0.498	B	0.34779	0.189	T	0.19976	-1.0289	10	0.87932	D	0	-10.5452	10.515	0.44885	0.0:0.0755:0.0:0.9245	.	46	Q8NE22	CE035_HUMAN	G	46;46;20	ENSP00000285947:V46G;ENSP00000442886:V46G	ENSP00000285947:V46G	V	+	2	0	C5orf35	56242791	0.887000	0.30362	0.981000	0.43875	0.998000	0.95712	2.851000	0.48302	2.016000	0.59253	0.533000	0.62120	GTT		0.368	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		26	30	0	0	0	1	0	26	30					G	56207034	T	G	56207034	3	3	407	1	0	0	0	0	1	0	0	0	2294	1725	60	5	143	5	C5orf35	5	56207034	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	994359	56207034	124708226	14	35630											
FAT2	2196	broad.mit.edu	37	chr5	150885459	150885459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttgctgtaacggggtggGagaggtgcccgcttgttttc	17	7	0	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:150885459G>A	ENST00000261800.5	-	23	12729	c.12717C>T	c.(12715-12717)ctC>ctT	p.L4239L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4239					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)			AACGGGGTGGGAGAGGTGCCC	0.627																																						ENST00000261800.5																			0				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						c.(12715-12717)ctC>ctT		FAT atypical cadherin 2							101	117	112					5																	150885459		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885459G>A	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.12717C>T	5.37:g.150885459G>A							p.L4239L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12729	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4239					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12717C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.065139	0.20067	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	2.06	0.26882	.	.	.	.	.	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46843	-0.9162	4	.	.	.	.	6.4204	0.21740	0.1456:0.0:0.6027:0.2517	.	.	.	.	S	1012	.	.	P	-	1	0	FAT2	150865652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.930000	0.40124	1.101000	0.41535	0.561000	0.74099	CCC		0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	111	0	0	0	1	0	4	111					A	150885459	G	A	150885459	2	1	407	1	0	0	0	0	0	0	0	1	5690	1161	41	2		2	FAT2	5	150885459	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	94678425	150885459	30029801	15	35631											
SLC17A2	10246	broad.mit.edu	37	chr6	25921320	25921320	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actgacctgtccatgccattCcctgaaatgaaaatcattaa	5	11	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:25921320C>A	ENST00000265425.3	-	4	496	c.476G>T	c.(475-477)gGa>gTa	p.G159V	SLC17A2_ENST00000360488.3_Splice_Site_p.G159V|SLC17A2_ENST00000377850.3_Splice_Site_p.G159V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	159					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						CCATGCCATTCCCTGAAATGA	0.448																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.e5-1		solute carrier family 17, member 2							91	76	81					6																	25921320		2203	4300	6503	SO:0001630	splice_region_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921320C>A	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.475-1G>T	6.37:g.25921320C>A						SLC17A2_ENST00000360488.3_Splice_Site_p.G159_splice|SLC17A2_ENST00000265425.3_Splice_Site_p.G159_splice	p.G159_splice			O00624	NPT3_HUMAN			5	1000	-			159					A6NK81|A6NLD6|Q5TB84|Q76P85	Splice_Site	SNP	ENST00000265425.3	37	c.474_splice		.	.	.	.	.	.	.	.	.	.	C	16.84	3.233728	0.58886	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.67865	-0.29;-0.29;-0.29	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.117629	0.38778	N	0.001569	T	0.62527	0.2435	L	0.55017	1.72	0.80722	D	1	P;P;P	0.49447	0.857;0.857;0.924	P;P;P	0.51266	0.498;0.498;0.664	T	0.64326	-0.6434	10	0.48119	T	0.1	.	13.6671	0.62403	0.0:1.0:0.0:0.0	.	159;159;159	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	159	ENSP00000353677:G159V;ENSP00000367081:G159V;ENSP00000265425:G159V	ENSP00000265425:G159V	G	-	2	0	SLC17A2	26029299	0.996000	0.38824	0.998000	0.56505	0.995000	0.86356	3.718000	0.54919	2.692000	0.91855	0.557000	0.71058	GGA		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		Missense_Mutation	16	22	1	0	6.72482e-11	1	7.07876e-11	16	22					A	25921320	C	A	25921320	5	1	407	1	0	0	0	0	0	0	1	0	14417	869	30	4	862	4	SLC17A2	6	25921320	Splice_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		25921320	145193747	16	35632											
C4A	720	broad.mit.edu	37	chr6	31963505	31963505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctccaaggctacatgcGgatccagcagtttcggaagg	11	12	1	0	rs143990092		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:31963505G>A	ENST00000428956.2	+	25	3248	c.3164G>A	c.(3163-3165)cGg>cAg	p.R1055Q	C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1055					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GGCTACATGCGGATCCAGCAG	0.607																																						ENST00000428956.2																			0											c.(3163-3165)cGg>cAg		complement component 4A (Rodgers blood group)		G	GLN/ARG	1,2989		0,1,1494	48	41	43		3164	3.1	1	6	dbSNP_134	43	0,5296		0,0,2648	no	missense	C4A	NM_007293.2	43	0,1,4142	AA,AG,GG		0.0,0.0334,0.0121	possibly-damaging	1055/1745	31963505	1,8285	1495	2648	4143	SO:0001583	missense	720							g.chr6:31963505G>A	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"Blood group antigens", "Complement system"	1323	protein-coding gene	gene with protein product		120810	"complement component 4A"				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3164G>A	6.37:g.31963505G>A	ENSP00000396688:p.Arg1055Gln					C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	p.R1055Q	NM_007293.2	NP_009224.2					25	3248	+								A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	c.3164G>A	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267565	0.59540	3.34E-4	0.0	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37752	1.18;1.18	3.11	3.11	0.35812	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.073130	0.53938	D	0.000057	T	0.32346	0.0826	L	0.43152	1.355	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.65010	0.931;0.921	T	0.03231	-1.1058	10	0.27082	T	0.32	.	9.9791	0.41802	0.0:0.0:1.0:0.0	.	1055;1055	A6H8M8;P0C0L4	.;CO4A_HUMAN	Q	1055	ENSP00000396688:R1055Q;ENSP00000420212:R1055Q	ENSP00000396688:R1055Q	R	+	2	0	C4A	32071484	0.994000	0.37717	0.992000	0.48379	0.557000	0.35523	2.575000	0.46025	1.780000	0.52325	0.413000	0.27773	CGG		0.607	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		5	66	0	0	0	1	0	5	66					A	31963505	G	A	31963505	3	1	407	1	0	0	0	0	1	0	0	0	2247	1116	39	1	3262	1	C4A	6	31963505	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	6042185	31963505	139151562	17	35633											
PAQR8	85315	broad.mit.edu	37	chr6	52268814	52268814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctgccccgtgcctgAgaagtacttcccgggttcct	9	16	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:52268814A>G	ENST00000442253.2	+	2	977	c.803A>G	c.(802-804)gAg>gGg	p.E268G	PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	268					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCGTGCCTGAGAAGTACTTC	0.572																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(802-804)gAg>gGg		progestin and adipoQ receptor family member VIII							121	108	112					6																	52268814		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268814A>G	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.803A>G	6.37:g.52268814A>G	ENSP00000406197:p.Glu268Gly					PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	977	+	Lung NSC(77;0.0875)		268					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.803A>G	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436775	0.83885	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.60548	0.18;0.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81780	-0.0776	9	.	.	.	-9.1117	15.0376	0.71761	1.0:0.0:0.0:0.0	.	268	Q8TEZ7	MPRB_HUMAN	G	268	ENSP00000406197:E268G;ENSP00000353953:E268G	.	E	+	2	0	PAQR8	52376773	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	2.147000	0.66899	0.533000	0.62120	GAG		0.572	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		37	39	0	0	0	1	0	37	39					G	52268814	A	G	52268814	3	3	407	1	0	0	0	0	1	0	0	0	11441	304	11	3	805	3	PAQR8	6	52268814	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	20305309	52268814	118846253	18	35634											
PLG	5340	broad.mit.edu	37	chr6	161152785	161152786	+	Frame_Shift_Del	DEL	TT	TT	-													ttccctgtacagactgtatgTttgggaatgggaaaggatac							TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161152785_161152786delTT	ENST00000308192.9	+	12	1510_1511	c.1447_1448delTT	c.(1447-1449)tttfs	p.F483fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	483	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACTGTATGTTTGGGAATGGG	0.495																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1447-1449)tfs		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161152785_161152786delTT	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1447_1448delTT	6.37:g.161152785_161152786delTT	ENSP00000308938:p.Phe483fs						p.F483fs	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	12	1510_1511	+			483			Kringle 5.		Q15146|Q5TEH4|Q6PA00	Frame_Shift_Del	DEL	ENST00000308192.9	37	c.1447_1448delTT	CCDS5279.1																																																																																				0.495	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		28	50						28	50	---	---	---	---	-	161152786	TT	-	161152785	7	5	407	1	0	1	0	1	0	0	0	0	12086	1725	60	0	1497	0	PLG	6	161152785	Frame_Shift_Del	DEL	TT	TCGA-RY-A83Z-01A-11D-A36O-08	108883971	161152785	9962282	19	35635											
MAP3K4	4216	broad.mit.edu	37	chr6	161469730	161469730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaatacagctataagcaGgagaaaaagatccgagcagc	11	7	0	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161469730G>A	ENST00000392142.4	+	3	574	c.426G>A	c.(424-426)caG>caA	p.Q142Q	MAP3K4_ENST00000366919.2_Silent_p.Q142Q|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000348824.7_Silent_p.Q142Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	142					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCTATAAGCAGGAGAAAAAGA	0.373																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(424-426)caG>caA		mitogen-activated protein kinase kinase kinase 4							91	96	94					6																	161469730		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161469730G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.426G>A	6.37:g.161469730G>A						MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Silent_p.Q142Q|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000348824.7_Silent_p.Q142Q	p.Q142Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	574	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	142					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.426G>A	CCDS34565.1																																																																																				0.373	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			27	36	0	0	0	1	0	27	36					A	161469730	G	A	161469730	2	1	407	1	0	0	0	0	0	0	0	1	9252	991	35	2		2	MAP3K4	6	161469730	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	316945	161469730	9645337	20	35636											
OSBPL3	26031	broad.mit.edu	37	chr7	24843938	24843938	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatccaggcacgaacctgaAaaaccgaggctggtgctcca	10	13	0	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:24843938A>G	ENST00000313367.2	-	22	3014	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	855					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						ACGAACCTGAAAAACCGAGGC	0.463																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2563-2565)Ttc>Ctc		oxysterol binding protein-like 3							159	137	145					7																	24843938		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24843938A>G	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.2563T>C	7.37:g.24843938A>G	ENSP00000315410:p.Phe855Leu					OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L	p.F855L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			22	3014	-			855					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2563T>C	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	A	35	5.418354	0.96092	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	H	0.98238	4.18	0.80722	D	1	P;P;D;P	0.62365	0.775;0.865;0.991;0.889	P;P;D;P	0.64237	0.689;0.689;0.923;0.88	D	0.97454	1.0030	10	0.87932	D	0	.	15.7835	0.78281	1.0:0.0:0.0:0.0	.	788;824;819;855	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	L	855;824;819;788;824;819;788	ENSP00000315410:F855L;ENSP00000315331:F824L;ENSP00000315277:F819L;ENSP00000389779:F788L;ENSP00000379708:F824L;ENSP00000379706:F819L;ENSP00000386953:F788L	ENSP00000315410:F855L	F	-	1	0	OSBPL3	24810463	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.762000	0.91711	2.127000	0.65507	0.460000	0.39030	TTC		0.463	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			41	51	0	0	0	1	0	41	51					G	24843938	A	G	24843938	3	3	407	1	0	0	0	0	1	0	0	0	11279	14	1	3	108	3	OSBPL3	7	24843938	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		24843938	134294725	21	35637											
RELN	5649	broad.mit.edu	37	chr7	103234846	103234846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtcatcgactgcccaCtggtcatagtcctcccctga	8	14	2	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:103234846C>T	ENST00000428762.1	-	26	3792	c.3633G>A	c.(3631-3633)caG>caA	p.Q1211Q	RELN_ENST00000424685.2_Silent_p.Q1211Q|RELN_ENST00000343529.5_Silent_p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1211					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)		CGACTGCCCACTGGTCATAGT	0.507																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				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						c.(3631-3633)caG>caA		reelin							240	231	234					7																	103234846		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234846C>T		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.3633G>A	7.37:g.103234846C>T						RELN_ENST00000343529.5_Silent_p.Q1211Q|RELN_ENST00000424685.2_Silent_p.Q1211Q	p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3792	-			1211					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3633G>A	CCDS47680.1																																																																																				0.507	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	264	0	0	0	1	0	10	264					T	103234846	C	T	103234846	2	4	407	1	0	0	0	0	0	0	0	1	13220	564	20	2		2	RELN	7	103234846	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	78390908	103234846	55903817	22	35638											
TES	26136	broad.mit.edu	37	chr7	115891827	115891827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagtcctgctattgctGcaaactgagtatgaaagaag	9	8	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:115891827G>A	ENST00000358204.4	+	5	931	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.C230Y|AC002066.1_ENST00000446355.2_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	239	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGCTATTGCTGCAAACTGAGT	0.438																																						ENST00000358204.4																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(715-717)tGc>tAc		testis derived transcript (3 LIM domains)							156	157	157					7																	115891827		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115891827G>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.716G>A	7.37:g.115891827G>A	ENSP00000350937:p.Cys239Tyr					TES_ENST00000393481.2_Missense_Mutation_p.C230Y|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_5'UTR	p.C239Y	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	931	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	239			LIM zinc-binding 1.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.716G>A	CCDS5763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.922770|2.922770	0.52653|0.52653	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000393484|ENST00000358204;ENST00000257721;ENST00000393481	.|D;D	.|0.99319	.|-5.74;-5.74	4.15|4.15	4.15|4.15	0.48705|0.48705	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99680|0.99680	0.9880|0.9880	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97069|0.97069	0.9776|0.9776	5|10	.|0.87932	.|D	.|0	-17.3667|-17.3667	16.7694|16.7694	0.85533|0.85533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|239	.|Q9UGI8	.|TES_HUMAN	T|Y	26|239;239;230	.|ENSP00000350937:C239Y;ENSP00000377121:C230Y	.|ENSP00000257721:C239Y	A|C	+|+	1|2	0|0	TES|TES	115679063|115679063	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.944000|0.944000	0.59088|0.59088	9.055000|9.055000	0.93873|0.93873	1.997000|1.997000	0.58415|0.58415	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.438	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		4	123	0	0	0	1	0	4	123					A	115891827	G	A	115891827	3	1	407	1	0	0	0	0	1	0	0	0	15762	1319	46	2	734	2	TES	7	115891827	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	12656981	115891827	43246836	23	35639											
MLL3	58508	broad.mit.edu	37	chr7	151848014	151848014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttttcgcttgtgcagTtgatgaataaagaataaagc	10	4	0	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:151848014T>C	ENST00000262189.6	-	51	12963	c.12745A>G	c.(12745-12747)Act>Gct	p.T4249A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T4306A|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4249					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)										GCTTGTGCAGTTGATGAATAA	0.398																																						ENST00000355193.2																			0											c.(12916-12918)Act>Gct		lysine (K)-specific methyltransferase 2C							126	108	114					7																	151848014		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151848014T>C	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.12745A>G	7.37:g.151848014T>C	ENSP00000262189:p.Thr4249Ala					KMT2C_ENST00000262189.6_Missense_Mutation_p.T4249A	p.T4306A							52	13134	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12916A>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.80|14.80	2.642694|2.642694	0.47153|0.47153	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.87966	.|-1.66;-1.66;-2.32	5.3|5.3	1.38|1.38	0.22167|0.22167	.|.	.|0.337440	.|0.20861	.|N	.|0.084341	T|T	0.71978|0.71978	0.3404|0.3404	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.06405	.|0.001;0.001;0.002	T|T	0.53408|0.53408	-0.8443|-0.8443	5|10	.|0.16420	.|T	.|0.52	.|.	3.4957|3.4957	0.07654|0.07654	0.2695:0.2993:0.0:0.4312|0.2695:0.2993:0.0:0.4312	.|.	.|4249;3367;4306	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	S|A	1809|4249;4306;866	.|ENSP00000262189:T4249A;ENSP00000347325:T4306A;ENSP00000410411:T866A	.|ENSP00000262189:T4249A	N|T	-|-	2|1	0|0	MLL3|MLL3	151478947|151478947	0.257000|0.257000	0.24022|0.24022	0.916000|0.916000	0.36221|0.36221	0.915000|0.915000	0.54546|0.54546	-0.216000|-0.216000	0.09266|0.09266	-0.004000|-0.004000	0.14419|0.14419	0.455000|0.455000	0.32223|0.32223	AAC|ACT		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			33	30	0	0	0	1	0	33	30					C	151848014	T	C	151848014	3	2	407	1	0	0	0	0	1	0	0	0	9622	1725	60	3	2026	3	MLL3	7	151848014	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	35956187	151848014	7290649	24	35640											
ADAM28	10863	broad.mit.edu	37	chr8	24187604	24187604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaagtgtccttctacaaTatgtgtgatggacaaagcac	9	8	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:24187604T>C	ENST00000265769.4	+	11	1189	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTTCTACAATATGTGTGATG	0.473																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1078-1080)aTa>aCa		ADAM metallopeptidase domain 28							142	127	132					8																	24187604		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24187604T>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1079T>C	8.37:g.24187604T>C	ENSP00000265769:p.Ile360Thr					ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T|ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.I360T	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	11	1189	+		Prostate(55;0.0959)	360			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1079T>C	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	0.527	-0.859696	0.02610	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	5.71	-2.96	0.05547	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.18166	0.0;0.026;0.026;0.002	B;B;B;B	0.17722	0.002;0.019;0.019;0.007	T	0.45789	-0.9237	9	0.17369	T	0.5	.	1.7074	0.02884	0.3849:0.0748:0.2488:0.2915	.	127;360;360;360	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	T	360;107;127;360	ENSP00000265769:I360T;ENSP00000380770:I107T;ENSP00000443743:I127T;ENSP00000393699:I360T	ENSP00000265769:I360T	I	+	2	0	ADAM28	24243549	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.230000	0.17852	-0.487000	0.06735	-1.862000	0.00560	ATA		0.473	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		6	61	0	0	0	1	0	6	61					C	24187604	T	C	24187604	3	2	407	1	0	0	0	0	1	0	0	0	246	1406	49	3	1121	3	ADAM28	8	24187604	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		24187604	122176418	25	35641											
XKR9	389668	broad.mit.edu	37	chr8	71619293	71619293	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagagtgactgatttgagcaTgctcagactatttgagacct	10	7	1	6			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:71619293T>A	ENST00000408926.3	+	4	932	c.398T>A	c.(397-399)aTg>aAg	p.M133K	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.M133K	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	133						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)			GATTTGAGCATGCTCAGACTA	0.388																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(397-399)aTg>aAg		XK, Kell blood group complex subunit-related family, member 9							145	136	139					8																	71619293		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71619293T>A	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.398T>A	8.37:g.71619293T>A	ENSP00000386141:p.Met133Lys					XKR9_ENST00000520030.1_Missense_Mutation_p.M133K|XKR9_ENST00000520273.1_3'UTR	p.M133K	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	932	+	Breast(64;0.0716)		133					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.398T>A	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155541	0.78114	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.69175	-0.38;-0.38	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85178	0.1002	10	0.59425	D	0.04	-17.4919	13.4788	0.61324	0.0:0.0:0.0:1.0	.	133	Q5GH70	XKR9_HUMAN	K	133	ENSP00000386141:M133K;ENSP00000431088:M133K	ENSP00000386141:M133K	M	+	2	0	XKR9	71781847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.564000	0.67359	2.014000	0.59158	0.460000	0.39030	ATG		0.388	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		37	64	0	0	0	1	0	37	64					A	71619293	T	A	71619293	3	1	407	1	0	0	0	0	1	0	0	0	17435	1464	51	5	404	5	XKR9	8	71619293	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	47431689	71619293	74744729	26	35642											
DNAJA1	3301	broad.mit.edu	37	chr9	33037066	33037066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactaaatgaaggcatgccaAtttatcgtagaccatatgaa	7	7	0	3	rs144405670		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:33037066A>G	ENST00000330899.4	+	8	1111	c.928A>G	c.(928-930)Att>Gtt	p.I310V	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	310					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AGGCATGCCAATTTATCGTAG	0.348																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(928-930)Att>Gtt		DnaJ (Hsp40) homolog, subfamily A, member 1		A	VAL/ILE	0,4406		0,0,2203	150	130	137		928	5.1	1	9	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAJA1	NM_001539.2	29	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	310/398	33037066	2,13004	2203	4300	6503	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33037066A>G	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.928A>G	9.37:g.33037066A>G	ENSP00000369127:p.Ile310Val					DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V|DNAJA1_ENST00000495015.1_3'UTR	p.I310V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	8	1111	+			310					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.928A>G	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803418	0.31869	0.0	2.33E-4	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.44482	0.92;0.92	5.11	5.11	0.69529	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.093462	0.64402	D	0.000001	T	0.32102	0.0818	L	0.37897	1.145	0.58432	D	0.999993	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.008	T	0.10428	-1.0630	10	0.15066	T	0.55	-17.4274	13.1513	0.59490	1.0:0.0:0.0:0.0	.	310;310	Q86TL9;P31689	.;DNJA1_HUMAN	V	310;153;153	ENSP00000369127:I310V;ENSP00000439010:I153V	ENSP00000369127:I310V	I	+	1	0	DNAJA1	33027066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.798000	0.47884	2.064000	0.61679	0.482000	0.46254	ATT		0.348	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			28	4	0	0	0	1	0	28	4					G	33037066	A	G	33037066	3	3	407	1	0	0	0	0	1	0	0	0	4611	101	4	3	954	3	DNAJA1	9	33037066	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		33037066	108176365	27	35643											
RC3H2	54542	broad.mit.edu	37	chr9	125639774	125639774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctcttcctgagaatggGcaaatgtacaatttgttcct	8	9	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:125639774G>A	ENST00000373670.1	-	8	1901	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	434					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						CTGAGAATGGGCAAATGTACA	0.393																																						ENST00000373670.1																			0				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						c.(1300-1302)gCc>gTc		ring finger and CCCH-type domains 2							291	282	285					9																	125639774		1858	4094	5952	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125639774G>A	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.1301C>T	9.37:g.125639774G>A	ENSP00000362774:p.Ala434Val					RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V|RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V	p.A434V			Q9HBD1	RC3H2_HUMAN			8	1901	-			434					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1301C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681788	0.96774	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.54	5.54	0.83059	Zinc finger, CCCH-type (3);	0.051862	0.85682	D	0.000000	T	0.72374	0.3452	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.996	D;D;D;D	0.97110	1.0;1.0;0.983;0.971	T	0.74500	-0.3645	10	0.87932	D	0	-11.1792	18.4783	0.90800	0.0:0.0:1.0:0.0	.	434;305;434;434	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	V	434;434;305;434;434;434	ENSP00000362774:A434V;ENSP00000349783:A434V;ENSP00000411767:A434V;ENSP00000362769:A434V;ENSP00000335150:A434V	ENSP00000335150:A434V	A	-	2	0	RC3H2	124679595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.859000	0.99545	2.627000	0.88993	0.637000	0.83480	GCC		0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		4	211	0	0	0	1	0	4	211					A	125639774	G	A	125639774	3	1	407	1	0	0	0	0	1	0	0	0	13167	1203	42	2	2404	2	RC3H2	9	125639774	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	92602708	125639774	15573657	28	35644											
MYO3A	53904	broad.mit.edu	37	chr10	26463168	26463168	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaaggcagaggccgTctgaggcatgagacagtcaa	16	8	2	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:26463168T>A	ENST00000265944.5	+	30	4141	c.3975T>A	c.(3973-3975)cgT>cgA	p.R1325R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1325					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGAGGCCGTCTGAGGCATG	0.483																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3973-3975)cgT>cgA		myosin IIIA							125	132	129					10																	26463168		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463168T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3975T>A	10.37:g.26463168T>A						MYO3A_ENST00000543632.1_Intron	p.R1325R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4141	+			1325					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3975T>A	CCDS7148.1																																																																																				0.483	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	93	0	0	0	1	0	6	93					A	26463168	T	A	26463168	2	1	407	1	0	0	0	0	0	0	0	1	10076	1654	58	5		5	MYO3A	10	26463168	Silent	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		26463168	109071579	29	35645											
C10orf81	79949	broad.mit.edu	37	chr10	115529577	115529577	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtaataaaagaaccctctTctactccagccctctccttg	6	14	3	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:115529577T>A	ENST00000369310.3	+	6	1014	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	PLEKHS1_ENST00000354462.3_5'Flank|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.F157Y|PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F69Y	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	151																	AGAACCCTCTTCTACTCCAGC	0.502																																						ENST00000361048.1																			0											c.(469-471)tTc>tAc		pleckstrin homology domain containing, family S member 1							125	119	121					10																	115529577		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115529577T>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.452T>A	10.37:g.115529577T>A	ENSP00000358316:p.Phe151Tyr					PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F69Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.F151Y	p.F157Y	NM_024889.4	NP_079165.3					7	797	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.470T>A	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476168	0.44044	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.28895	1.59;1.59;1.59	5.93	5.02	0.67125	.	0.459548	0.23019	N	0.052872	T	0.26593	0.0650	L	0.29908	0.895	0.09310	N	1	D;P;P	0.53745	0.962;0.838;0.898	P;B;B	0.45681	0.49;0.253;0.354	T	0.10132	-1.0643	10	0.56958	D	0.05	-34.7055	10.321	0.43767	0.0:0.908:0.0:0.092	.	151;151;157	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	Y	157;69;151	ENSP00000354332:F157Y;ENSP00000358318:F69Y;ENSP00000358316:F151Y	ENSP00000354332:F157Y	F	+	2	0	C10orf81	115519567	0.347000	0.24853	0.010000	0.14722	0.001000	0.01503	2.143000	0.42187	1.484000	0.48361	-0.242000	0.12053	TTC		0.502	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		47	24	0	0	0	1	0	47	24					A	115529577	T	A	115529577	3	1	407	1	0	0	0	0	1	0	0	0	1619	1783	62	5	492	5	C10orf81	10	115529577	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	89066409	115529577	20005170	30	35646											
OR8H1	219469	broad.mit.edu	37	chr11	56058377	56058377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacatgggagtgtgaagCtggaggtccaggcggattat	15	5	0	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:56058377C>T	ENST00000313022.2	-	1	189	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	54						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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTGTGAAGCTGGAGGTCCA	0.413																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(160-162)caG>caA		olfactory receptor, family 8, subfamily H, member 1							240	227	232					11																	56058377		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058377C>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.162G>A	11.37:g.56058377C>T							p.Q54Q	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	189	-	Esophageal squamous(21;0.00448)		54					B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.162G>A	CCDS31526.1																																																																																				0.413	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		111	119	0	0	0	1	0	111	119					T	56058377	C	T	56058377	2	4	407	1	0	0	0	0	0	0	0	1	11237	796	28	2		2	OR8H1	11	56058377	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		56058377	78948139	31	35647											
NADSYN1	55191	broad.mit.edu	37	chr11	71208529	71208529	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagatttttgttgtgcacagGaagatatggggatgacatat	12	4	0	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:71208529G>C	ENST00000319023.2	+	19	1953	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	NADSYN1_ENST00000530055.1_Splice_Site_p.E218Q|NADSYN1_ENST00000539574.1_Splice_Site_p.E329Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	589	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTGTGCACAGGAAGATATGGG	0.517																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e19-1		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						113	108	110					11																	71208529		2200	4294	6494	SO:0001630	splice_region_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208529G>C	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1765-1G>C	11.37:g.71208529G>C						NADSYN1_ENST00000530055.1_Splice_Site_p.E218_splice|NADSYN1_ENST00000539574.1_Splice_Site_p.E329_splice	p.E589_splice	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			19	1953	+			589			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Splice_Site	SNP	ENST00000319023.2	37	c.1764_splice	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.512348	0.27036	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45668	0.89;0.89;0.89	4.68	4.68	0.58851	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.232112	0.35677	N	0.003044	T	0.37705	0.1013	L	0.43152	1.355	0.48632	D	0.999689	B;B	0.19445	0.018;0.036	B;B	0.28553	0.026;0.091	T	0.15492	-1.0435	10	0.21014	T	0.42	-11.0508	15.0852	0.72145	0.0:0.0:1.0:0.0	.	329;589	B3KUU4;Q6IA69	.;NADE_HUMAN	Q	589;329;218	ENSP00000326424:E589Q;ENSP00000443718:E329Q;ENSP00000431820:E218Q	ENSP00000326424:E589Q	E	+	1	0	NADSYN1	70886177	1.000000	0.71417	0.988000	0.46212	0.438000	0.31896	4.047000	0.57383	2.164000	0.68074	0.491000	0.48974	GAA		0.517	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	Missense_Mutation	3	41	0	0	0	1	0	3	41					C	71208529	G	C	71208529	5	2	407	1	0	0	0	0	0	0	1	0	10138	1188	41	4	1839	4	NADSYN1	11	71208529	Splice_Site	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	15150152	71208529	63797987	32	35648											
LRRC32	2615	broad.mit.edu	37	chr11	76372296	76372296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccaccagcactcagcGcagtggccatcgccagccgg	12	18	1	0	rs201131944	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:76372296G>A	ENST00000407242.2	-	3	583	c.341C>T	c.(340-342)gCg>gTg	p.A114V	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	114					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.A114E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCACTCAGCGCAGTGGCCAT	0.677													G|||	3	0.000599042	0.0	0.0	5008	,	,		15426	0.002		0.001	False		,,,				2504	0.0					ENST00000407242.2																			1	Substitution - Missense(1)	p.A114E(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(340-342)gCg>gTg		leucine rich repeat containing 32		G	VAL/ALA,VAL/ALA	1,4399		0,1,2199	38	40	39		341,341	1	0	11		39	0,8584		0,0,4292	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	64,64	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	114/663,114/663	76372296	1,12983	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372296G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.341C>T	11.37:g.76372296G>A	ENSP00000384126:p.Ala114Val					AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V	p.A114V	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	583	-			114					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.341C>T	CCDS8245.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	G	0.708	-0.788122	0.02884	2.27E-4	0.0	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.79653	-1.29;-1.29;-1.29;4.26	4.13	1.05	0.20165	.	0.921991	0.09294	N	0.821898	T	0.70657	0.3249	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.54918	-0.8221	10	0.34782	T	0.22	.	9.0178	0.36182	0.2592:0.0:0.7408:0.0	.	114;114	C9JYU3;Q14392	.;LRC32_HUMAN	V	114	ENSP00000260061:A114V;ENSP00000384126:A114V;ENSP00000385766:A114V;ENSP00000413331:A114V	ENSP00000260061:A114V	A	-	2	0	LRRC32	76049944	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.520000	0.22878	0.028000	0.15324	-0.254000	0.11334	GCG		0.677	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		22	30	0	0	0	1	0	22	30					A	76372296	G	A	76372296	3	1	407	1	0	0	0	0	1	0	0	0	8987	1087	38	1	1651	1	LRRC32	11	76372296	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	5163767	76372296	58634220	33	35649											
KRT8	3856	broad.mit.edu	37	chr12	53292607	53292607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcctccagctcggacAacttggcgttggcatcctta	13	13	0	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:53292607A>G	ENST00000552551.1	-	7	1490	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	KRT8_ENST00000552150.1_Missense_Mutation_p.L381S|KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000293308.6_Missense_Mutation_p.L353S			P05787	K2C8_HUMAN	keratin 8	353	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CAGCTCGGACAACTTGGCGTT	0.637																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(1057-1059)tTg>tCg		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						52	52	52					12																	53292607		2203	4300	6503	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292607A>G	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1058T>C	12.37:g.53292607A>G	ENSP00000447566:p.Leu353Ser					KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000293308.6_Missense_Mutation_p.L353S|KRT8_ENST00000552150.1_Missense_Mutation_p.L381S	p.L353S			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	7	1490	-			353			Coil 2.|Necessary for interaction with PNN.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1058T>C	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319507	0.23994	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	3.85	2.68	0.31781	Filament (1);	0.243412	0.33938	N	0.004403	D	0.94225	0.8146	H	0.99058	4.415	0.38723	D	0.953499	B;B	0.30361	0.234;0.277	B;B	0.35353	0.197;0.201	D	0.92856	0.6301	10	0.87932	D	0	.	9.0391	0.36307	0.8347:0.0:0.0:0.1653	.	381;353	F8VXB4;P05787	.;K2C8_HUMAN	S	353;353;353;381	ENSP00000447566:L353S;ENSP00000293308:L353S;ENSP00000447402:L353S;ENSP00000449404:L381S	ENSP00000293308:L353S	L	-	2	0	KRT8	51578874	1.000000	0.71417	0.840000	0.33206	0.001000	0.01503	6.058000	0.71126	0.599000	0.29845	-0.444000	0.05651	TTG		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		4	76	0	0	0	1	0	4	76					G	53292607	A	G	53292607	3	3	407	1	0	0	0	0	1	0	0	0	8493	131	5	3	405	3	KRT8	12	53292607	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		53292607	80559288	34	35650											
DGKA	1606	broad.mit.edu	37	chr12	56347145	56347145	+	Frame_Shift_Del	DEL	C	C	-													ctcctatagcaccacaaaaaCccttcccatgcaaattgacg							TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56347145delC	ENST00000331886.5	+	23	2529	c.2075delC	c.(2074-2076)accfs	p.T692fs	DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	692					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAAAAACCCTTCCCATG	0.463																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2074-2076)acfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						273	268	270					12																	56347145		2203	4300	6503	SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347145delC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2075delC	12.37:g.56347145delC	ENSP00000328405:p.Thr692fs					DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs	p.T692fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			23	2529	+			692					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Del	DEL	ENST00000331886.5	37	c.2075delC	CCDS8896.1																																																																																				0.463	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			143	179						143	179	---	---	---	---	-	56347145	C	-	56347145	7	5	407	1	0	1	0	1	0	0	0	0	4465	507	18	0	2161	0	DGKA	12	56347145	Frame_Shift_Del	DEL	C	TCGA-RY-A83Z-01A-11D-A36O-08	3054538	56347145	77504750	35	35651											
TIMELESS	8914	broad.mit.edu	37	chr12	56811559	56811559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggattcctggagctcCcaactctggtgctgtgggaa	12	10	1	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56811559C>T	ENST00000553532.1	-	29	3718	c.3568G>A	c.(3568-3570)Gga>Aga	p.G1190R	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R|TIMELESS_ENST00000229201.4_Missense_Mutation_p.G1189R					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						CCTGGAGCTCCCAACTCTGGT	0.453																																						ENST00000229201.4																			0				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						c.(3565-3567)Gga>Aga		timeless circadian clock							120	108	112					12																	56811559		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811559C>T	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.3568G>A	12.37:g.56811559C>T	ENSP00000450607:p.Gly1190Arg					TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G1190R	p.G1189R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			29	3719	-			1190						Missense_Mutation	SNP	ENST00000553532.1	37	c.3565G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756682	0.15846	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12255	3.25;3.25;2.7	4.17	0.0667	0.14362	.	1.027230	0.07733	N	0.945522	T	0.09158	0.0226	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44128	-0.9348	10	0.13470	T	0.59	-1.2746	3.6368	0.08151	0.0:0.4704:0.1891:0.3405	.	1190	Q9UNS1	TIM_HUMAN	R	1189;1190;687	ENSP00000229201:G1189R;ENSP00000450607:G1190R;ENSP00000450848:G687R	ENSP00000229201:G1190R	G	-	1	0	TIMELESS	55097826	0.006000	0.16342	0.000000	0.03702	0.038000	0.13279	0.169000	0.16641	0.007000	0.14760	-0.218000	0.12543	GGA		0.453	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		33	37	0	0	0	1	0	33	37					T	56811559	C	T	56811559	3	4	407	1	0	0	0	0	1	0	0	0	15901	632	22	2	62	2	TIMELESS	12	56811559	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	464414	56811559	77040336	36	35652											
KCNMB4	27345	broad.mit.edu	37	chr12	70824293	70824294	+	In_Frame_Ins	INS	-	-	ATGATG													tgtgcttctgcatcgcactcINSatgatgagattgtcctcctg							TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:70824293_70824294insATGATG	ENST00000258111.4	+	3	952_953	c.493_494insATGATG	c.(493-495)cat>cATGATGat	p.165_166insDD		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	165					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCATCGCACTCATGATGAGATT	0.49																																						ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(493-495)tga>ATGATGtga		potassium large conductance calcium-activated channel, subfamily M, beta member 4																																				SO:0001652	inframe_insertion	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70824293_70824294insATGATG	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.494_499dupATGATG	12.37:g.70824294_70824299dupATGATG	ENSP00000258111:p.His165_Asp166insAspAsp						p.164_165insMM	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	952_953	+	Renal(347;0.236)		164					Q8IVR3|Q9NPA4|Q9P0G5	In_Frame_Ins	INS	ENST00000258111.4	37	c.493_494insATGATG	CCDS8997.1																																																																																				0.49	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		39	83						39	83	---	---	---	---	ATGATG	70824294	-	ATGATG	70824293	7	5	407	1	0	1	1	0	0	0	0	0	8077	826	29	0	503	0	KCNMB4	12	70824293	In_Frame_Ins	INS	-	TCGA-RY-A83Z-01A-11D-A36O-08	14012734	70824293	63027602	37	35653											
ATP12A	479	broad.mit.edu	37	chr13	25281245	25281245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgggattgccatggggataGcaggttctgatgcagccaaa	14	7	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr13:25281245G>T	ENST00000381946.3	+	16	2421	c.2254G>T	c.(2254-2256)Gca>Tca	p.A752S	ATP12A_ENST00000218548.6_Missense_Mutation_p.A758S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	752					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CATGGGGATAGCAGGTTCTGA	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2272-2274)Gca>Tca		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						98	81	87					13																	25281245		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25281245G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2254G>T	13.37:g.25281245G>T	ENSP00000371372:p.Ala752Ser					ATP12A_ENST00000381946.3_Missense_Mutation_p.A752S	p.A758S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	16	2605	+		Lung SC(185;0.0225)|Breast(139;0.077)	752					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2272G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	9.425	1.084071	0.20309	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99060	-5.38;-5.38	5.81	1.82	0.25136	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.225564	0.38663	N	0.001613	D	0.92896	0.7740	N	0.01267	-0.92	0.53005	D	0.999969	B;B	0.15719	0.014;0.004	B;B	0.26969	0.075;0.011	D	0.85706	0.1316	10	0.36615	T	0.2	.	5.8829	0.18866	0.151:0.0:0.5814:0.2676	.	758;752	P54707-2;P54707	.;AT12A_HUMAN	S	758;752	ENSP00000218548:A758S;ENSP00000371372:A752S	ENSP00000218548:A758S	A	+	1	0	ATP12A	24179245	0.999000	0.42202	0.744000	0.31058	0.145000	0.21501	0.549000	0.23329	0.323000	0.23307	0.563000	0.77884	GCA		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		5	35	1	0	1.23904e-05	1	1.27081e-05	5	35					T	25281245	G	T	25281245	3	4	407	1	0	0	0	0	1	0	0	0	1122	971	34	4	2334	4	ATP12A	13	25281245	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		25281245	89888633	38	35654											
CATSPERB	79820	broad.mit.edu	37	chr14	92055893	92055893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactcagtttccagttgtGcctcatgttcacttcagtca	6	13	5	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr14:92055893G>A	ENST00000256343.3	-	24	3097	c.2941C>T	c.(2941-2943)Cac>Tac	p.H981Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	981					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCCAGTTGTGCCTCATGTTC	0.363																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2941-2943)Cac>Tac		catsper channel auxiliary subunit beta							105	98	101					14																	92055893		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92055893G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2941C>T	14.37:g.92055893G>A	ENSP00000256343:p.His981Tyr						p.H981Y	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			24	3097	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	981					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2941C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414794	0.11870	.	.	ENSG00000133962	ENST00000256343	T	0.42900	0.96	5.1	-2.29	0.06805	.	1.409480	0.04577	N	0.394273	T	0.23094	0.0558	N	0.08118	0	0.19575	N	0.999969	B	0.15930	0.015	B	0.22601	0.04	T	0.29181	-1.0020	10	0.59425	D	0.04	-1.1378	5.2022	0.15271	0.0:0.3299:0.2847:0.3854	.	981	Q9H7T0	CTSRB_HUMAN	Y	981	ENSP00000256343:H981Y	ENSP00000256343:H981Y	H	-	1	0	CATSPERB	91125646	0.293000	0.24371	0.398000	0.26321	0.061000	0.15899	-0.762000	0.04745	-0.478000	0.06823	-0.397000	0.06425	CAC		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		14	48	0	0	0	1	0	14	48					A	92055893	G	A	92055893	3	1	407	1	0	0	0	0	1	0	0	0	2691	1319	46	2	425	2	CATSPERB	14	92055893	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		92055893	15293647	39	35655											
WDR72	256764	broad.mit.edu	37	chr15	53907717	53907717	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactatagtatctgactctcGcaaagaatcacaattatttt	4	8	3	2	rs557128345		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:53907717G>A	ENST00000396328.1	-	15	2925	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTGACTCTCGCAAAGAATCA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		16181	0.0		0.0	False		,,,				2504	0.001					ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2686-2688)Cga>Tga		WD repeat domain 72							46	46	46					15																	53907717		2193	4293	6486	SO:0001587	stop_gained	256764							g.chr15:53907717G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2686C>T	15.37:g.53907717G>A	ENSP00000379619:p.Arg896*					WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*	p.R896*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2925	-			896					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.2686C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097598	0.76870	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.72	3.83	0.44106	.	0.518793	0.19062	N	0.123750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.4279	0.11513	0.0777:0.1251:0.545:0.2522	.	.	.	.	X	896	.	ENSP00000353699:R896X	R	-	1	2	WDR72	51695009	0.170000	0.23016	0.443000	0.26883	0.158000	0.22134	2.479000	0.45197	0.755000	0.32990	0.655000	0.94253	CGA		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		18	30	0	0	0	1	0	18	30					A	53907717	G	A	53907717	4	1	407	1	0	0	0	0	0	1	0	0	17319	1095	38	1	646	1	WDR72	15	53907717	Nonsense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		53907717	48623675	40	35656											
AGBL1	123624	broad.mit.edu	37	chr15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttttctgcaggacatcGtccatatcaggtgatcactg	8	12	3	1	rs377248005	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													G|||	3	0.000599042	0.0	0.0	5008	,	,		18414	0.002		0.0	False		,,,				2504	0.001					ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2242-2244)cGt>cAt		ATP/GTP binding protein-like 1		G	HIS/ARG	0,3834		0,0,1917	98	92	94		2243	5.5	1	15		94	1,8253		0,1,4126	no	missense	AGBL1	NM_152336.2	29	0,1,6043	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	748/1067	86940603	1,12087	1917	4127	6044	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940603G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2243G>A	15.37:g.86940603G>A	ENSP00000413001:p.Arg748His					AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H	p.R748H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			17	2338	+			748					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2243G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778249	0.90195	0.0	1.21E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.12255	2.7;2.7	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000001	T	0.44850	0.1313	M	0.84773	2.715	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.47005	-0.9150	10	0.87932	D	0	-15.0685	18.7311	0.91735	0.0:0.0:1.0:0.0	.	748	Q96MI9	CBPC4_HUMAN	H	777;748;479	ENSP00000397173:R748H;ENSP00000373949:R479H	ENSP00000373949:R479H	R	+	2	0	AGBL1	84741607	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.689000	0.98673	2.733000	0.93635	0.655000	0.94253	CGT		0.403	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		3	23	0	0	0	1	0	3	23					A	86940603	G	A	86940603	3	1	407	1	0	0	0	0	1	0	0	0	375	1145	40	1	2305	1	AGBL1	15	86940603	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	33032886	86940603	15590789	41	35657											
GPR139	124274	broad.mit.edu	37	chr16	20043306	20043306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcagaagggctagcatGttggcaatgtcggacatgat	14	6	1	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:20043306G>A	ENST00000570682.1	-	2	1113	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	271					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGGCTAGCATGTTGGCAATGT	0.552																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(811-813)aaC>aaT		G protein-coupled receptor 139							84	86	85					16																	20043306		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043306G>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.813C>T	16.37:g.20043306G>A							p.N271N	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1113	-			271					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.813C>T	CCDS32398.1																																																																																				0.552	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		29	44	0	0	0	1	0	29	44					A	20043306	G	A	20043306	2	1	407	1	0	0	0	0	0	0	0	1	6648	1368	48	2		2	GPR139	16	20043306	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		20043306	70311447	42	35658											
CRYM	1428	broad.mit.edu	37	chr16	21281137	21281137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagaactgctctgtgaAgatctcataatggctgtagg	12	6	2	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:21281137A>G	ENST00000219599.3	-	6	728	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	155					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		TGCTCTGTGAAGATCTCATAA	0.522																																						ENST00000219599.3																			0				large_intestine(1)|lung(3)	4						c.(463-465)Ttc>Ctc		crystallin, mu	Levothyroxine(DB00451)						81	84	83					16																	21281137		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21281137A>G		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"thiomorpholine-carboxylate dehydrogenase"	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.463T>C	16.37:g.21281137A>G	ENSP00000219599:p.Phe155Leu					CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	p.F155L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	728	-			155					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.463T>C	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025926	0.35701	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	N	0.12663	0.25	0.80722	D	1	B	0.29508	0.246	B	0.37015	0.239	T	0.55418	-0.8144	10	0.02654	T	1	-16.0838	13.9433	0.64069	1.0:0.0:0.0:0.0	.	155	Q14894	CRYM_HUMAN	L	155;155;155;113	ENSP00000440227:F155L;ENSP00000219599:F155L;ENSP00000379341:F155L;ENSP00000390928:F113L	ENSP00000219599:F155L	F	-	1	0	CRYM	21188638	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.715000	0.74697	2.144000	0.66660	0.533000	0.62120	TTC		0.522	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			31	30	0	0	0	1	0	31	30					G	21281137	A	G	21281137	3	3	407	1	0	0	0	0	1	0	0	0	3921	72	3	3	501	3	CRYM	16	21281137	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	1237831	21281137	69073616	43	35659											
OR1G1	8390	broad.mit.edu	37	chr17	3030555	3030555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatacaactgtagtagAcaccctgagtaggagatggc	10	7	0	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:3030555A>C	ENST00000328890.2	-	1	320	c.291T>G	c.(289-291)tgT>tgG	p.C97W		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	97					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)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTAGTAGACACCCTGAGT	0.502																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(289-291)tgT>tgG		olfactory receptor, family 1, subfamily G, member 1							80	73	76					17																	3030555		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030555A>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.291T>G	17.37:g.3030555A>C	ENSP00000331545:p.Cys97Trp						p.C97W	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	320	-			97					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.291T>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457594	0.43634	.	.	ENSG00000183024	ENST00000328890	T	0.00551	6.65	4.4	-0.571	0.11749	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04318	0.0119	H	0.99590	4.645	0.39383	D	0.966285	D	0.89917	1.0	D	0.91635	0.999	T	0.08848	-1.0702	9	0.87932	D	0	.	9.1771	0.37118	0.5389:0.0:0.4611:0.0	.	97	P47890	OR1G1_HUMAN	W	97	ENSP00000331545:C97W	ENSP00000331545:C97W	C	-	3	2	OR1G1	2977305	0.001000	0.12720	0.219000	0.23793	0.934000	0.57294	-0.151000	0.10175	-0.020000	0.14032	0.432000	0.28606	TGT		0.502	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			31	43	0	0	0	1	0	31	43					C	3030555	A	C	3030555	3	2	407	1	0	0	0	0	1	0	0	0	10957	273	10	5	654	5	OR1G1	17	3030555	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		3030555	78164655	44	35660											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	8	0	0	0	1	0	58	8					T	7578406	C	T	7578406	3	4	407	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	4547851	7578406	73616804	45	35661											
XYLT2	64132	broad.mit.edu	37	chr17	48432928	48432928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcctcaagtcacatggCcgggacaactccaggtgagg	11	11	2	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:48432928C>T	ENST00000017003.2	+	5	1123	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	XYLT2_ENST00000507602.1_Silent_p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	358					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGTCACATGGCCGGGACAACT	0.612																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1072-1074)ggC>ggT		xylosyltransferase II							58	56	57					17																	48432928		2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48432928C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1074C>T	17.37:g.48432928C>T						XYLT2_ENST00000507602.1_Silent_p.G358G	p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			5	1123	+	Breast(11;7.18e-19)		358					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.1074C>T	CCDS11563.1																																																																																				0.612	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		4	94	0	0	0	1	0	4	94					T	48432928	C	T	48432928	2	4	407	1	0	0	0	0	0	0	0	1	17461	726	26	2		2	XYLT2	17	48432928	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	40854522	48432928	32762282	46	35662											
SLC7A10	56301	broad.mit.edu	37	chr19	33699847	33699847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagggagggtgggcAggggccattctcctcctctt	16	11	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:33699847A>G	ENST00000253188.4	-	11	1668	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	508					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGGTGGGCAGGGGCCATTC	0.547																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(1522-1524)Tgc>Cgc		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							32	35	34					19																	33699847		2202	4300	6502	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33699847A>G	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1522T>C	19.37:g.33699847A>G	ENSP00000253188:p.Cys508Arg						p.C508R	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			11	1668	-	Esophageal squamous(110;0.137)		508					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.1522T>C	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	A	3.427	-0.116827	0.06838	.	.	ENSG00000130876	ENST00000253188	D	0.90324	-2.65	4.86	2.59	0.31030	.	1.185040	0.05996	N	0.646860	D	0.83681	0.5307	L	0.36672	1.1	0.43574	D	0.995902	B;B	0.21452	0.004;0.056	B;B	0.14578	0.009;0.011	T	0.70063	-0.4975	10	0.25106	T	0.35	.	2.2531	0.04048	0.5524:0.2195:0.0881:0.14	.	508;355	Q9NS82;Q9NWI3	AAA1_HUMAN;.	R	508	ENSP00000253188:C508R	ENSP00000253188:C508R	C	-	1	0	SLC7A10	38391687	0.984000	0.35163	0.442000	0.26870	0.045000	0.14185	3.300000	0.51834	0.167000	0.19631	-0.376000	0.06991	TGC		0.547	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		4	14	0	0	0	1	0	4	14					G	33699847	A	G	33699847	3	3	407	1	0	0	0	0	1	0	0	0	14693	188	7	3	53	3	SLC7A10	19	33699847	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		33699847	25429136	47	35663											
LILRB5	10990	broad.mit.edu	37	chr19	54758866	54758866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaccttggggcccggCtgcaccgagagggcgggtat	18	12	0	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:54758866C>T	ENST00000316219.5	-	6	1094	c.987G>A	c.(985-987)caG>caA	p.Q329Q	LILRB5_ENST00000450632.1_Silent_p.Q320Q|LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	329					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGCCCGGCTGCACCGAGA	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(958-960)caG>caA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							28	29	28					19																	54758866		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758866C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.987G>A	19.37:g.54758866C>T						LILRB5_ENST00000316219.5_Silent_p.Q329Q|LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q	p.Q320Q			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1037	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		329					Q8N760	Silent	SNP	ENST00000316219.5	37	c.960G>A	CCDS12885.1																																																																																				0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			12	2	0	0	0	1	0	12	2					T	54758866	C	T	54758866	2	4	407	1	0	0	0	0	0	0	0	1	8794	796	28	2		2	LILRB5	19	54758866	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	21059019	54758866	4370117	48	35664											
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccctgtgagcccctccCacgggggccagtacagatgc	14	15	0	2	rs532565720	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			3	49	0	0	0	1	0	3	49					T	55086932	C	T	55086932	3	4	407	1	0	0	0	0	1	0	0	0	8785	594	21	2	883	2	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	328066	55086932	4042051	49	35665											
NLRP8	126205	broad.mit.edu	37	chr19	56466710	56466710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctctgtgttcgtccGgtatatttctagcttgtttc	8	11	2	0	rs150630809		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:56466710G>A	ENST00000291971.3	+	3	1357	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)		GTGTTCGTCCGGTATATTTCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19803	0.0		0.001	False		,,,				2504	0.0					ENST00000291971.3																			0				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						c.(1285-1287)cGg>cAg		NLR family, pyrin domain containing 8		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	87	89	89		1286	-3.6	0	19	dbSNP_134	89	9,8591	7.1+/-27.0	0,9,4291	yes	missense	NLRP8	NM_176811.2	43	0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846	benign	429/1049	56466710	11,12995	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466710G>A	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.1286G>A	19.37:g.56466710G>A	ENSP00000291971:p.Arg429Gln					NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1357	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	429			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1286G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	3.795	-0.042810	0.07452	4.54E-4	0.001047	ENSG00000179709	ENST00000291971	D	0.83755	-1.76	1.78	-3.56	0.04626	.	.	.	.	.	T	0.55625	0.1932	N	0.11000	0.08	0.09310	N	1	B;P	0.35959	0.087;0.53	B;B	0.20767	0.014;0.031	T	0.47799	-0.9089	9	0.29301	T	0.29	.	4.1107	0.10057	0.2487:0.0:0.5414:0.21	.	429;429	Q86W28-2;Q86W28	.;NALP8_HUMAN	Q	429	ENSP00000291971:R429Q	ENSP00000291971:R429Q	R	+	2	0	NLRP8	61158522	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.163000	0.09997	-1.352000	0.02194	-0.492000	0.04666	CGG		0.493	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		38	12	0	0	0	1	0	38	12					A	56466710	G	A	56466710	3	1	407	1	0	0	0	0	1	0	0	0	10483	1116	39	1	1296	1	NLRP8	19	56466710	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	1379778	56466710	2662273	50	35666											
APOL3	80833	broad.mit.edu	37	chr22	36537770	36537770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcccagtcacagcagaCgctgctcccagccctacccc	8	19	1	2	rs146525352	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:36537770C>T	ENST00000349314.2	-	3	724	c.687G>A	c.(685-687)gcG>gcA	p.A229A	APOL3_ENST00000424878.2_Silent_p.A29A|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397287.2_Silent_p.A29A	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	229					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCACAGCAGACGCTGCTCCCA	0.567																																						ENST00000424878.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(85-87)gcG>gcA		apolipoprotein L, 3		T	,,	1,4405	2.1+/-5.4	0,1,2202	58	47	51		687,87,87	-8.6	0	22	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	APOL3	NM_145640.2,NM_145641.2,NM_145642.2	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	229/403,29/203,29/203	36537770	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537770C>T	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.687G>A	22.37:g.36537770C>T						APOL3_ENST00000397287.2_Silent_p.A29A|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000487423.1_5'UTR	p.A29A			O95236	APOL3_HUMAN			4	2235	-			229					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Silent	SNP	ENST00000349314.2	37	c.87G>A	CCDS13922.1																																																																																				0.567	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		15	20	0	0	0	1	0	15	20					T	36537770	C	T	36537770	2	4	407	1	0	0	0	0	0	0	0	1	807	523	19	1		1	APOL3	22	36537770	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		36537770	14766796	51	35667											
LGALS1	3956	broad.mit.edu	37	chr22	38075664	38075664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagctgccagatggatacGaattcaagttccccaaccgc	8	13	2	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38075664G>A	ENST00000215909.5	+	4	411	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	106	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.E106K(1)		endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					AGATGGATACGAATTCAAGTT	0.567																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5																			1	Substitution - Missense(1)	p.E106K(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)	3						c.(316-318)Gaa>Aaa		lectin, galactoside-binding, soluble, 1							140	102	115					22																	38075664		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075664G>A		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"Lectins, galactoside-binding", "Endogenous ligands"	6561	protein-coding gene	gene with protein product	"galectin 1"	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.316G>A	22.37:g.38075664G>A	ENSP00000215909:p.Glu106Lys					LGALS1_ENST00000489315.1_3'UTR	p.E106K	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN			4	411	+	Melanoma(58;0.0574)		106			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.316G>A	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141473	0.37825	.	.	ENSG00000100097	ENST00000215909	T	0.05513	3.43	6.08	-12.2	0.00006	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.762380	0.02920	N	0.137886	T	0.04861	0.0131	L	0.49778	1.585	0.09310	N	1	B	0.27316	0.175	B	0.32211	0.142	T	0.28744	-1.0034	10	0.09084	T	0.74	-8.015	4.5201	0.11956	0.0818:0.2123:0.4143:0.2915	.	106	P09382	LEG1_HUMAN	K	106	ENSP00000215909:E106K	ENSP00000215909:E106K	E	+	1	0	LGALS1	36405610	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-0.895000	0.04118	-2.540000	0.00486	-0.895000	0.02911	GAA		0.567	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		28	30	0	0	0	1	0	28	30					A	38075664	G	A	38075664	3	1	407	1	0	0	0	0	1	0	0	0	8738	1059	37	1	330	1	LGALS1	22	38075664	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	1537894	38075664	13228902	52	35668											
TRIOBP	11078	broad.mit.edu	37	chr22	38121461	38121461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccccagtcctcctttggCcccacccagtacaacttgcc	5	21	0	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38121461C>T	ENST00000406386.3	+	7	3153	c.2898C>T	c.(2896-2898)ggC>ggT	p.G966G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	966					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)					CCTCCTTTGGCCCCACCCAGT	0.647																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2896-2898)ggC>ggT		TRIO and F-actin binding protein							115	136	129					22																	38121461		2070	4207	6277	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121461C>T	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.2898C>T	22.37:g.38121461C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.G966G	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3153	+	Melanoma(58;0.0574)		966					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2898C>T	CCDS43015.1																																																																																				0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	174	0	0	0	1	0	4	174					T	38121461	C	T	38121461	2	4	407	1	0	0	0	0	0	0	0	1	16550	726	26	2		2	TRIOBP	22	38121461	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	45797	38121461	13183105	53	35669											
RBX1	9978	broad.mit.edu	37	chr22	41347409	41347409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgtttccaaaatggcgGcagcgatggatgtggatacc	14	8	0	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:41347409G>A	ENST00000216225.8	+	1	47	c.7G>A	c.(7-9)Gca>Aca	p.A3T	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	3					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						CAAAATGGCGGCAGCGATGGA	0.662																																						ENST00000216225.8																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(7-9)Gca>Aca		ring-box 1, E3 ubiquitin protein ligase							36	35	35					22																	41347409		2200	4294	6494	SO:0001583	missense	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41347409G>A	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"RING-type (C3HC4) zinc fingers"	9928	protein-coding gene	gene with protein product	"regulator of cullins 1"	603814	"ring-box 1"			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.7G>A	22.37:g.41347409G>A	ENSP00000216225:p.Ala3Thr					XPNPEP3_ENST00000544094.1_Intron	p.A3T	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN			1	47	+			3					B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	c.7G>A	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249564	0.80024	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.85542	2.76	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66468	-0.5916	9	0.12430	T	0.62	.	17.9379	0.89018	0.0:0.0:1.0:0.0	.	3	P62877	RBX1_HUMAN	T	3	.	ENSP00000216225:A3T	A	+	1	0	RBX1	39677355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.294000	0.89934	2.842000	0.97951	0.655000	0.94253	GCA		0.662	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		6	20	0	0	0	1	0	6	20					A	41347409	G	A	41347409	3	1	407	1	0	0	0	0	1	0	0	0	13165	1203	42	2	9	2	RBX1	22	41347409	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	3225948	41347409	9957157	54	35670											
CLCN4	1183	broad.mit.edu	37	chrX	10176604	10176604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatcttcaaaatcgtcGttaccatatttacctttggc	5	11	2	1	rs369733340		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:10176604G>A	ENST00000380833.4	+	9	1754	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527													g|||	1	0.000264901	0.0	0.0	3775	,	,		14124	0.001		0.0	False		,,,				2504	0.0				Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			1	Substitution - Missense(1)	p.V455F(1)	urinary_tract(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1363-1365)Gtt>Att		chloride channel, voltage-sensitive 4		G	ILE/VAL	0,3833		0,0,1632,569	61	60	60		1363	3.1	1	X		60	1,6718		0,1,2427,1863	no	missense	CLCN4	NM_001830.3	29	0,1,4059,2432	AA,AG,GG,G		0.0149,0.0,0.0095	benign	455/761	10176604	1,10551	2201	4291	6492	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176604G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1363G>A	X.37:g.10176604G>A	ENSP00000370213:p.Val455Ile					CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	p.V455I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1754	+			455					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1363G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	4.242	0.043901	0.08196	0.0	1.49E-4	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94232	-3.38;-3.38;-3.38	5.44	3.11	0.35812	Chloride channel, core (2);	0.093539	0.64402	N	0.000001	T	0.71576	0.3356	N	0.00453	-1.485	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.65446	-0.6166	10	0.02654	T	1	-10.0509	7.8195	0.29280	0.8201:0.0:0.1799:0.0	.	455	P51793	CLCN4_HUMAN	I	455;424;361	ENSP00000370213:V455I;ENSP00000370209:V424I;ENSP00000405754:V361I	ENSP00000370209:V424I	V	+	1	0	CLCN4	10136604	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.895000	0.63214	0.273000	0.22049	0.596000	0.82720	GTT		0.527	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			42	54	0	0	0	1	0	42	54					A	10176604	G	A	10176604	3	1	407	1	0	0	0	0	1	0	0	0	3465	1145	40	1	1389	1	CLCN4	23	10176604	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		10176604	145093956	55	35671											
MAP3K15	389840	broad.mit.edu	37	chrX	19378946	19378946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagagtctgcagaggagaCcacccctgggaaacaaacac	10	13	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:19378946C>A	ENST00000338883.4	-	29	3862	c.3863G>T	c.(3862-3864)gGt>gTt	p.G1288V	PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1288							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)					GCAGAGGAGACCACCCCTGGG	0.473																																						ENST00000338883.4																			0				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						c.(3862-3864)gGt>gTt		mitogen-activated protein kinase kinase kinase 15							104	80	88					X																	19378946		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19378946C>A	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.3863G>T	X.37:g.19378946C>A	ENSP00000345629:p.Gly1288Val					PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V|PDHA1_ENST00000540249.1_3'UTR	p.G1288V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			29	3862	-	Hepatocellular(33;0.183)		1288					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3863G>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.178762	0.78564	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.90444	-2.67;-2.67;-2.67	5.62	2.83	0.33086	Sterile alpha motif/pointed domain (1);	0.173760	0.37012	U	0.002294	D	0.94670	0.8281	M	0.88450	2.955	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92338	0.5879	10	0.87932	D	0	.	5.7454	0.18118	0.1424:0.6483:0.1341:0.0752	.	763;1288	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	V	1288;723;1120	ENSP00000345629:G1288V;ENSP00000352093:G723V;ENSP00000428356:G1120V	ENSP00000345629:G1288V	G	-	2	0	MAP3K15	19288867	0.984000	0.35163	0.001000	0.08648	0.869000	0.49853	2.686000	0.46968	0.225000	0.20959	0.594000	0.82650	GGT		0.473	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		16	24	1	0	1.15088e-07	1	1.19572e-07	16	24					A	19378946	C	A	19378946	3	1	407	1	0	0	0	0	1	0	0	0	9249	507	18	4	82	4	MAP3K15	23	19378946	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	9202342	19378946	135891614	56	35672											
PHEX	5251	broad.mit.edu	37	chrX	22245635	22245635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccaggcttacaggaaAtggataaatgacagaaggca	10	8	1	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:22245635A>T	ENST00000379374.4	+	20	2542	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	PHEX_ENST00000535894.1_Missense_Mutation_p.K562N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000537599.1_Missense_Mutation_p.K659N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	659					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						CTTACAGGAAATGGATAAATG	0.453																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1975-1977)aaA>aaT		phosphate regulating endopeptidase homolog, X-linked							118	89	99					X																	22245635		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22245635A>T	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.1977A>T	X.37:g.22245635A>T	ENSP00000368682:p.Lys659Asn					PHEX_ENST00000537599.1_Missense_Mutation_p.K659N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000535894.1_Missense_Mutation_p.K562N	p.K659N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			20	2542	+			659					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1977A>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297338	0.23650	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.38	2.99	0.34606	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.045385	0.85682	D	0.000000	T	0.79094	0.4388	N	0.11255	0.115	0.42414	D	0.992613	B;P	0.35226	0.435;0.491	B;B	0.37015	0.154;0.239	T	0.69007	-0.5259	10	0.21540	T	0.41	.	7.9747	0.30149	0.7616:0.0:0.2384:0.0	.	659;659	F5GXU4;P78562	.;PHEX_HUMAN	N	659;659;562;362	ENSP00000368682:K659N;ENSP00000440362:K659N;ENSP00000439418:K562N;ENSP00000443531:K362N	ENSP00000368682:K659N	K	+	3	2	PHEX	22155556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.685000	0.37659	0.217000	0.20800	0.486000	0.48141	AAA		0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		28	25	0	0	0	1	0	28	25					T	22245635	A	T	22245635	3	4	407	1	0	0	0	0	1	0	0	0	11819	98	4	5	2055	5	PHEX	23	22245635	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	2866689	22245635	133024925	57	35673											
CXorf22	170063	broad.mit.edu	37	chrX	35959495	35959495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctaaagagattactatcaCtaaccatggcaaagctccag	6	10	2	1	rs200468650		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:35959495C>G	ENST00000297866.5	+	3	563	c.497C>G	c.(496-498)aCt>aGt	p.T166S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	166										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTACTATCACTAACCATGGC	0.333																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(496-498)aCt>aGt		chromosome X open reading frame 22							58	55	56					X																	35959495		2202	4296	6498	SO:0001583	missense	170063							g.chrX:35959495C>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.497C>G	X.37:g.35959495C>G	ENSP00000297866:p.Thr166Ser						p.T166S	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			3	563	+			166					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.497C>G	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	0	-2.620900	0.00118	.	.	ENSG00000165164	ENST00000297866	T	0.45276	0.9	5.71	-5.11	0.02901	.	1.010270	0.07926	N	0.976663	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.31364	-0.9946	10	0.07644	T	0.81	-14.4154	3.447	0.07484	0.1153:0.3591:0.3443:0.1813	.	166	Q6ZTR5	CX022_HUMAN	S	166	ENSP00000297866:T166S	ENSP00000297866:T166S	T	+	2	0	CXorf22	35869416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.728000	0.04925	-1.056000	0.03205	-3.006000	0.00076	ACT		0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		12	31	0	0	0	1	0	12	31					G	35959495	C	G	35959495	3	3	407	1	0	0	0	0	1	0	0	0	4102	565	20	4	507	4	CXorf22	23	35959495	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	13713860	35959495	119311065	58	35674											
CFP	5199	broad.mit.edu	37	chrX	47485791	47485791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggcacatcgatgtccGtcaaacttgcggcccctgca	10	16	1	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:47485791G>A	ENST00000396992.3	-	7	1188	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	CFP_ENST00000377005.2_Silent_p.D356D|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.D356D	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	356	TSP type-1 5. {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						ATCGATGTCCGTCAAACTTGC	0.607																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(1066-1068)gaC>gaT		complement factor properdin							61	52	55					X																	47485791		2203	4300	6503	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485791G>A	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.1068C>T	X.37:g.47485791G>A						CFP_ENST00000396992.3_Silent_p.D356D|CFP_ENST00000377005.2_Silent_p.D356D	p.D356D	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			8	1309	-			356			TSP type-1 5.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.1068C>T	CCDS14282.1																																																																																				0.607	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		6	13	0	0	0	1	0	6	13					A	47485791	G	A	47485791	2	1	407	1	0	0	0	0	0	0	0	1	3293	1136	40	1		1	CFP	23	47485791	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	11526296	47485791	107784769	59	35675											
ZXDA	7789	broad.mit.edu	37	chrX	57935760	57935760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtggggaagctctcctcGcacacctcacatttgaacga	10	13	2	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57935760G>A	ENST00000358697.4	-	1	1307	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	365	Required for interaction with ZXDC.				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						AGCTCTCCTCGCACACCTCAC	0.607																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1093-1095)tgC>tgT		zinc finger, X-linked, duplicated A							98	84	89					X																	57935760		2203	4300	6503	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935760G>A	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.1095C>T	X.37:g.57935760G>A							p.C365C	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1307	-			365			Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1095C>T	CCDS14376.1																																																																																				0.607	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		33	41	0	0	0	1	0	33	41					A	57935760	G	A	57935760	2	1	407	1	0	0	0	0	0	0	0	1	18247	1079	38	1		1	ZXDA	23	57935760	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	10449969	57935760	97334800	60	35676											
ZXDA	7789	broad.mit.edu	37	chrX	57936020	57936020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctggtgcttcttggCgaaggtttgcccgcacagcg	13	12	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57936020C>T	ENST00000358697.4	-	1	1047	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	279	Required for interaction with ZXDC.				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						TGCTTCTTGGCGAAGGTTTGC	0.697																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(835-837)Gcc>Acc		zinc finger, X-linked, duplicated A							16	16	16					X																	57936020		2197	4298	6495	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936020C>T	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.835G>A	X.37:g.57936020C>T	ENSP00000351530:p.Ala279Thr						p.A279T	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1047	-			279			Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.835G>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720834	0.48728	.	.	ENSG00000198205	ENST00000358697	T	0.36157	1.27	3.35	-0.714	0.11219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.589008	0.17058	N	0.188677	T	0.20373	0.0490	N	0.04132	-0.27	0.23984	N	0.996268	D	0.62365	0.991	P	0.56163	0.793	T	0.10451	-1.0629	9	.	.	.	.	1.3471	0.02165	0.1711:0.4396:0.1653:0.224	.	279	P98168	ZXDA_HUMAN	T	279	ENSP00000351530:A279T	.	A	-	1	0	ZXDA	57952745	0.000000	0.05858	0.915000	0.36163	0.940000	0.58332	-1.239000	0.02916	-0.313000	0.08728	0.415000	0.27848	GCC		0.697	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		9	4	0	0	0	1	0	9	4					T	57936020	C	T	57936020	3	4	407	1	0	0	0	0	1	0	0	0	18247	768	27	1	1568	1	ZXDA	23	57936020	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	260	57936020	97334540	61	35677											
SLC16A2	6567	broad.mit.edu	37	chrX	73740894	73740894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagtatattcactgaccGtttgggctgccgaatcacag	11	9	2	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:73740894G>A	ENST00000587091.1	+	2	677	c.500G>A	c.(499-501)cGt>cAt	p.R167H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R241H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	167					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTCACTGACCGTTTGGGCTGC	0.512																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(721-723)cGt>cAt		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						131	113	119					X																	73740894		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740894G>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.500G>A	X.37:g.73740894G>A	ENSP00000465734:p.Arg167His					SLC16A2_ENST00000587091.1_Missense_Mutation_p.R167H	p.R241H			P36021	MOT8_HUMAN			2	888	+			167					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.722G>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357492	0.61293	.	.	ENSG00000147100	ENST00000276033	T	0.65549	-0.16	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);	0.110904	0.64402	D	0.000018	T	0.62011	0.2393	L	0.52905	1.665	0.49687	D	0.999817	P	0.41420	0.749	B	0.41174	0.349	T	0.59322	-0.7476	10	0.27785	T	0.31	.	18.7779	0.91918	0.0:0.0:1.0:0.0	.	167	P36021	MOT8_HUMAN	H	241	ENSP00000276033:R241H	ENSP00000276033:R241H	R	+	2	0	SLC16A2	73657619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.782000	0.38654	2.479000	0.83701	0.597000	0.82753	CGT		0.512	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			48	70	0	0	0	1	0	48	70					A	73740894	G	A	73740894	3	1	407	1	0	0	0	0	1	0	0	0	14408	1145	40	1	728	1	SLC16A2	23	73740894	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	15804874	73740894	81529666	62	35678											
ATRX	546	broad.mit.edu	37	chrX	76889121	76889122	+	Frame_Shift_Ins	INS	-	-	T													attcatccaattcaaagcagINStattaagaggacaaaccact							TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:76889121_76889122insT	ENST00000373344.5	-	18	5102_5103	c.4888_4889insA	c.(4888-4890)actfs	p.T1630fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1592fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1630	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						ATTCAAAGCAGTATTAAGAGGA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4888-4890)tgcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889121_76889122insT	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.4889dupA	X.37:g.76889122_76889122dupT	ENSP00000362441:p.Thr1630fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C1592fs	p.C1630fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5102_5103	-			1630			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.4888_4889insA	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		40	57						40	57	---	---	---	---	T	76889122	-	T	76889121	7	5	407	1	0	1	1	0	0	0	0	0	1208	1029	36	0	2661	0	ATRX	23	76889121	Frame_Shift_Ins	INS	-	TCGA-RY-A83Z-01A-11D-A36O-08	3148227	76889121	78381439	63	35679											
GPR112	139378	broad.mit.edu	37	chrX	135426598	135426598	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaagtacaactgtttcaCaacagatagatatgaccact	5	8	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:135426598C>T	ENST00000394143.1	+	6	1024	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	245					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTGTTTCACAACAGATAGA	0.328																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(733-735)Caa>Taa		G protein-coupled receptor 112							108	80	90					X																	135426598		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426598C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.733C>T	X.37:g.135426598C>T	ENSP00000377699:p.Gln245*					GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*	p.Q245*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1024	+	Acute lymphoblastic leukemia(192;0.000127)		245					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.733C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	34	5.309000	0.95629	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.8037	0.52141	0.0:1.0:0.0:0.0	.	.	.	.	X	245;245;40;182;40	.	ENSP00000287534:Q182X	Q	+	1	0	GPR112	135254264	0.732000	0.28121	0.955000	0.39395	0.094000	0.18550	1.834000	0.39171	2.070000	0.61991	0.509000	0.49947	CAA		0.328	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			25	48	0	0	0	1	0	25	48					T	135426598	C	T	135426598	4	4	407	1	0	0	0	0	0	1	0	0	6629	479	17	2	743	2	GPR112	23	135426598	Nonsense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	58537477	135426598	19843962	64	35680											
MAGEA4	4103	broad.mit.edu	37	chrX	151092272	151092272	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtctcctcctcctctcctCtggtccctggcaccctggag	8	19	3	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092272C>G	ENST00000360243.2	+	3	403	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370335.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	46										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCTCTGGTCCCTGG	0.627																																						ENST00000370335.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(136-138)Ctg>Gtg		melanoma antigen family A, 4							60	56	57					X																	151092272		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092272C>G		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.136C>G	X.37:g.151092272C>G	ENSP00000353379:p.Leu46Val					MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V	p.L46V			P43358	MAGA4_HUMAN			3	403	+	Acute lymphoblastic leukemia(192;6.56e-05)		46					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.136C>G	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	5.669	0.307998	0.10733	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5	2.0	-0.0416	0.13867	Melanoma associated antigen, MAGE, N-terminal (1);	2.751440	0.01729	N	0.028773	T	0.07548	0.0190	L	0.46947	1.48	0.09310	N	1	P	0.39424	0.673	B	0.39465	0.3	T	0.27262	-1.0079	10	0.27082	T	0.32	.	3.7152	0.08435	0.2816:0.4446:0.2738:0.0	.	46	P43358	MAGA4_HUMAN	V	46	ENSP00000387777:L46V;ENSP00000276344:L46V;ENSP00000391904:L46V;ENSP00000377498:L46V;ENSP00000394149:L46V;ENSP00000359362:L46V;ENSP00000402624:L46V;ENSP00000377497:L46V;ENSP00000359365:L46V;ENSP00000394073:L46V;ENSP00000400900:L46V;ENSP00000402186:L46V;ENSP00000359360:L46V;ENSP00000353379:L46V;ENSP00000390096:L46V	ENSP00000276344:L46V	L	+	1	2	MAGEA4	150842928	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.288000	0.02783	-0.106000	0.12110	0.436000	0.28706	CTG		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		31	51	0	0	0	1	0	31	51					G	151092272	C	G	151092272	3	3	407	1	0	0	0	0	1	0	0	0	9168	912	32	4	138	4	MAGEA4	23	151092272	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	15665674	151092272	4178288	65	35681			1	41		2	2	28	C		5.843468e-05
MAGEA4	4103	broad.mit.edu	37	chrX	151092299	151092299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaccctggaggaagtgCctgctgctgagtcagcaggt	15	11	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092299C>T	ENST00000360243.2	+	3	430	c.163C>T	c.(163-165)Cct>Tct	p.P55S	MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370335.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	55										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGTGCCTGCTGCTGA	0.627																																						ENST00000370335.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(163-165)Cct>Tct		melanoma antigen family A, 4							69	65	66					X																	151092299		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092299C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.163C>T	X.37:g.151092299C>T	ENSP00000353379:p.Pro55Ser					MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S	p.P55S			P43358	MAGA4_HUMAN			3	430	+	Acute lymphoblastic leukemia(192;6.56e-05)		55					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.163C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.189697	0.01607	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32	2.2	-4.39	0.03611	Melanoma associated antigen, MAGE, N-terminal (1);	2.171440	0.01986	N	0.045188	T	0.06096	0.0158	L	0.39514	1.22	0.09310	N	1	B	0.20368	0.044	B	0.26614	0.071	T	0.35276	-0.9795	10	0.20046	T	0.44	.	4.9776	0.14148	0.0:0.4957:0.2461:0.2582	.	55	P43358	MAGA4_HUMAN	S	55	ENSP00000387777:P55S;ENSP00000276344:P55S;ENSP00000391904:P55S;ENSP00000377498:P55S;ENSP00000394149:P55S;ENSP00000359362:P55S;ENSP00000402624:P55S;ENSP00000377497:P55S;ENSP00000359365:P55S;ENSP00000394073:P55S;ENSP00000400900:P55S;ENSP00000402186:P55S;ENSP00000359360:P55S;ENSP00000353379:P55S;ENSP00000390096:P55S	ENSP00000276344:P55S	P	+	1	0	MAGEA4	150842955	.	.	0.000000	0.03702	0.004000	0.04260	.	.	-1.681000	0.01448	-0.422000	0.05995	CCT		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		25	58	0	0	0	1	0	25	58					T	151092299	C	T	151092299	3	4	407	1	0	0	0	0	1	0	0	0	9168	739	26	2	165	2	MAGEA4	23	151092299	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	27	151092299	4178261	66	35682			1	41		2	2	28	C		5.843468e-05
ATP6AP1	537	broad.mit.edu	37	chrX	153664056	153664056	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacgtaatgggggagcAgttctcctacgccagcgact	11	11	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:153664056A>T	ENST00000369762.2	+	10	1293	c.1232A>T	c.(1231-1233)cAg>cTg	p.Q411L	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	411					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					ATGGGGGAGCAGTTCTCCTAC	0.597																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1231-1233)cAg>cTg		ATPase, H+ transporting, lysosomal accessory protein 1							167	158	161					X																	153664056		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153664056A>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1232A>T	X.37:g.153664056A>T	ENSP00000358777:p.Gln411Leu						p.Q411L	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			10	1293	+	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)		411					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1232A>T	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	A	9.677	1.148283	0.21288	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.56	2.24	0.28232	.	0.836599	0.11286	N	0.579785	T	0.26919	0.0659	L	0.28192	0.835	0.09310	N	1	B;B	0.26258	0.145;0.145	B;B	0.27500	0.05;0.08	T	0.26087	-1.0113	9	0.27082	T	0.32	-2.0468	4.9257	0.13892	0.688:0.1579:0.1541:0.0	.	371;411	B3KR70;Q15904	.;VAS1_HUMAN	L	411;235	.	ENSP00000358777:Q411L	Q	+	2	0	ATP6AP1	153317250	0.000000	0.05858	0.891000	0.34965	0.443000	0.32047	0.177000	0.16801	0.129000	0.18514	0.486000	0.48141	CAG		0.597	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		77	95	0	0	0	1	0	77	95					T	153664056	A	T	153664056	3	4	407	1	0	0	0	0	1	0	0	0	1165	188	7	5	1270	5	ATP6AP1	23	153664056	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	2571757	153664056	1606504	67	35683											
SCAMP3	10067	broad.mit.edu	37	chr1	155226515	155226515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgccagtgaagagcagggCgaccagcagcatgagcacgg	15	10	0	3	rs563500300		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:155226515C>T	ENST00000302631.3	-	8	954	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.A257T|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000361361.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	283					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)			AAGAGCAGGGCGACCAGCAGC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21741	0.0		0.0	False		,,,				2504	0.0					ENST00000355379.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(769-771)Gcc>Acc		secretory carrier membrane protein 3							114	85	95					1																	155226515		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155226515C>T	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.847G>A	1.37:g.155226515C>T	ENSP00000307275:p.Ala283Thr					SCAMP3_ENST00000302631.3_Missense_Mutation_p.A283T|SCAMP3_ENST00000472397.1_5'UTR	p.A257T	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	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)		7	1047	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		283					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.769G>A	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	29.7	5.029663	0.93518	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.18810	2.19;2.19	5.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	M	0.64170	1.965	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.69824	0.966;0.942;0.893	T	0.04294	-1.0962	10	0.72032	D	0.01	-11.8828	9.3154	0.37930	0.0:0.7712:0.1465:0.0823	.	283;257;283	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	T	283;257	ENSP00000307275:A283T;ENSP00000347540:A257T	ENSP00000307275:A283T	A	-	1	0	SCAMP3	153493139	0.998000	0.40836	0.810000	0.32431	0.942000	0.58702	3.826000	0.55738	1.418000	0.47098	0.561000	0.74099	GCC		0.582	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		16	30	0	0	0	1	0	16	30					T	155226515	C	T	155226515	3	4	408	1	0	0	0	0	1	0	0	0	13872	768	27	1	204	1	SCAMP3	1	155226515	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		155226515	94024106	1	35684											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	59	0	0	0	1	0	27	59					T	209113112	C	T	209113112	3	4	408	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		209113112	34086261	2	35685											
ANO7	50636	broad.mit.edu	37	chr2	242135327	242135327	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgacccatgaccttgccGcatgaggcctgagggcatgg	14	12	0	4			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:242135327G>A	ENST00000274979.8	+	4	574				ANO7_ENST00000402530.3_Missense_Mutation_p.A179T|ANO7_ENST00000402430.3_Intron	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7						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						TGACCTTGCCGCATGAGGCCT	0.632																																						ENST00000402530.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(535-537)Gca>Aca		anoctamin 7							60	58	59					2																	242135327		1327	2309	3636	SO:0001627	intron_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135327G>A	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.471+67G>A	2.37:g.242135327G>A						ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron	p.A179T	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN			4	638	+			0					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.535G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	2.096	-0.407212	0.04832	.	.	ENSG00000146205	ENST00000402530	T	0.50277	0.75	1.11	-0.958	0.10347	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	P	0.34826	0.471	B	0.16722	0.016	T	0.12708	-1.0537	8	0.87932	D	0	.	3.1367	0.06441	0.2871:0.4105:0.3024:0.0	.	179	Q6IWH7-2	.	T	179	ENSP00000383985:A179T	ENSP00000383985:A179T	A	+	1	0	ANO7	241784000	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.382000	0.07870	-1.545000	0.00906	GCA		0.632	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		12	15	0	0	0	1	0	12	15					A	242135327	G	A	242135327	1	1	408	0	1	0	0	0	0	0	0	0	702	1087	38	1		1	ANO7	2	242135327	Intron	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	33022215	242135327	1064046	3	35686											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728917	118728917	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaatcattcagcgccaCctcactgccaagtcacatgg	6	16	4	0			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr5:118728917C>T	ENST00000503646.1	+	3	1126	c.438C>T	c.(436-438)caC>caT	p.H146H	TNFAIP8_ENST00000504771.2_Silent_p.H146H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.H158H|TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000274456.6_Silent_p.H136H			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	146					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		TTCAGCGCCACCTCACTGCCA	0.408																																						ENST00000504771.2																			0				ovary(1)	1						c.(436-438)caC>caT		tumor necrosis factor, alpha-induced protein 8							111	112	112					5																	118728917		1990	4193	6183	SO:0001819	synonymous_variant	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728917C>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.438C>T	5.37:g.118728917C>T						TNFAIP8_ENST00000274456.6_Silent_p.H136H|TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000503646.1_Silent_p.H146H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.H158H	p.H146H	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	2	2215	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	146					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Silent	SNP	ENST00000503646.1	37	c.438C>T	CCDS47258.1																																																																																				0.408	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		34	57	0	0	0	1	0	34	57					T	118728917	C	T	118728917	2	4	408	1	0	0	0	0	0	0	0	1	16273	506	18	2		2	TNFAIP8	5	118728917	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		118728917	62186343	4	35687											
FGD2	221472	broad.mit.edu	37	chr6	36989372	36989372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctgagggagacatccagGagcaggaggtaaatgaaggc	17	7	0	3			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr6:36989372G>A	ENST00000274963.8	+	12	1489	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	440					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)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGACATCCAGGAGCAGGAGGT	0.557											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1318-1320)Gag>Aag		FYVE, RhoGEF and PH domain containing 2							47	45	46					6																	36989372		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36989372G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1318G>A	6.37:g.36989372G>A	ENSP00000274963:p.Glu440Lys		OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	867		p.E440K	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			12	1489	+			440					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1318G>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522988	0.27211	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59083	0.29	5.25	5.25	0.73442	.	0.162210	0.29660	N	0.011538	T	0.29588	0.0738	N	0.19112	0.55	0.38866	D	0.956586	P	0.37781	0.608	B	0.35413	0.202	T	0.23691	-1.0181	10	0.38643	T	0.18	-9.3499	15.7578	0.78051	0.0:0.0:1.0:0.0	.	440	Q7Z6J4	FGD2_HUMAN	K	440;68	ENSP00000274963:E440K	ENSP00000274963:E440K	E	+	1	0	FGD2	37097350	1.000000	0.71417	0.911000	0.35937	0.309000	0.27889	6.346000	0.72999	2.460000	0.83146	0.561000	0.74099	GAG		0.557	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		9	9	0	0	0	1	0	9	9					A	36989372	G	A	36989372	3	1	408	1	0	0	0	0	1	0	0	0	5833	1175	41	2	1364	2	FGD2	6	36989372	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		36989372	134125695	5	35688											
TRIM24	8805	broad.mit.edu	37	chr7	138263957	138263957	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctactacaggccaattaTccaagaagcatactcacctc	4	13	2	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr7:138263957T>C	ENST00000343526.4	+	15	2480	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	TRIM24_ENST00000415680.2_Silent_p.Y721Y			O15164	TIF1A_HUMAN	tripartite motif containing 24	755	Nuclear receptor binding site (NRBS).				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGCCAATTATCCAAGAAGCA	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2263-2265)taT>taC		tripartite motif containing 24							63	64	64					7																	138263957		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138263957T>C	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2265T>C	7.37:g.138263957T>C						TRIM24_ENST00000415680.2_Silent_p.Y721Y	p.Y755Y			O15164	TIF1A_HUMAN			15	2480	+			755			Nuclear receptor binding site (NRBS).		A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.2265T>C	CCDS5847.1																																																																																				0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		37	47	0	0	0	1	0	37	47					C	138263957	T	C	138263957	2	2	408	1	0	0	0	0	0	0	0	1	16495	1442	50	3		3	TRIM24	7	138263957	Silent	SNP	T	TCGA-RY-A840-01A-11D-A36O-08		138263957	20874706	6	35689											
GML	2765	broad.mit.edu	37	chr8	143922564	143922564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagatgccatgactgtgCggtcataaatgacttcaact	9	8	2	3	rs138790796		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr8:143922564C>T	ENST00000220940.1	+	3	194	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	35	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGACTGTGCGGTCATAAAT	0.463													c|||	1	0.000199681	0.0	0.0	5008	,	,		24363	0.001		0.0	False		,,,				2504	0.0					ENST00000220940.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(103-105)gCg>gTg		glycosylphosphatidylinositol anchored molecule like		C	VAL/ALA	1,4405		0,1,2202	199	159	173		104	-6.8	0	8	dbSNP_134	173	1,8599		0,1,4299	yes	missense	GML	NM_002066.2	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	35/159	143922564	2,13004	2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143922564C>T	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"GPI anchored molecule like protein", "glycosylphosphatidylinositol anchored molecule like protein"			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.104C>T	8.37:g.143922564C>T	ENSP00000220940:p.Ala35Val						p.A35V	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			3	194	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		35			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.104C>T	CCDS6391.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	N	0.007	-2.006103	0.00426	2.27E-4	1.16E-4	ENSG00000104499	ENST00000522728;ENST00000220940	T;T	0.21191	2.02;2.02	3.43	-6.85	0.01681	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	3.347490	0.00834	N	0.001691	T	0.10165	0.0249	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.09377	0.004	T	0.10800	-1.0614	10	0.18710	T	0.47	-20.1734	3.7938	0.08732	0.2065:0.4663:0.0943:0.233	.	35	Q99445	GML_HUMAN	V	35	ENSP00000430799:A35V;ENSP00000220940:A35V	ENSP00000220940:A35V	A	+	2	0	GML	143919566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.040000	0.00157	-6.113000	0.00006	-2.245000	0.00285	GCG		0.463	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		4	130	0	0	0	1	0	4	130					T	143922564	C	T	143922564	3	4	408	1	0	0	0	0	1	0	0	0	6492	768	27	1	110	1	GML	8	143922564	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		143922564	2441458	7	35690											
GRIN1	2902	broad.mit.edu	37	chr9	140062230	140062230	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttctattttgcagcagtAccatcccactgatatcacgg	6	11	2	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr9:140062230A>G	ENST00000371561.3	+	0	4165				GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000315048.3_Missense_Mutation_p.Y902C|GRIN1_ENST00000371546.4_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|RP11-350O14.18_ENST00000568665.1_RNA|GRIN1_ENST00000371555.4_3'UTR|MIR3621_ENST00000580529.1_RNA|GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1						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)	TTGCAGCAGTACCATCCCACT	0.682																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000315048.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(2704-2706)tAc>tGc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						51	60	57					9																	140062230		1948	4132	6080	SO:0001624	3_prime_UTR_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140062230A>G		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.*251A>G	9.37:g.140062230A>G						GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C|GRIN1_ENST00000371555.4_3'UTR|GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|GRIN1_ENST00000371561.3_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371546.4_3'UTR	p.Y902C			Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	20	3802	+	all_cancers(76;0.0926)		0					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.2705A>G	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308416	0.60305	.	.	ENSG00000176884	ENST00000315048;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T	0.72835	-0.63;-0.4;-0.69;-0.47	3.66	3.66	0.41972	.	.	.	.	.	T	0.58323	0.2114	N	0.08118	0	0.40200	D	0.977504	D;D;D	0.59357	0.975;0.983;0.985	P;P;P	0.52267	0.498;0.613;0.694	T	0.61402	-0.7070	9	0.41790	T	0.15	.	10.2919	0.43601	1.0:0.0:0.0:0.0	.	886;923;865	Q5VSF4;Q5VSF5;Q05586-2	.;.;.	C	902;923;865;886	ENSP00000316696:Y902C;ENSP00000360608:Y923C;ENSP00000360614:Y865C;ENSP00000360615:Y886C	ENSP00000316696:Y902C	Y	+	2	0	GRIN1	139182051	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.304000	0.59104	1.546000	0.49388	0.459000	0.35465	TAC		0.682	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		3	39	0	0	0	1	0	3	39					G	140062230	A	G	140062230	1	3	408	0	1	0	0	0	0	0	0	0	6778	391	14	3		3	GRIN1	9	140062230	3'UTR	SNP	A	TCGA-RY-A840-01A-11D-A36O-08		140062230	1151201	8	35691											
COL13A1	1305	broad.mit.edu	37	chr10	71690264	71690264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcacccagggagcccaGgagagaagggggaaaaaggg	19	8	0	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr10:71690264G>A	ENST00000398978.3	+	29	2098	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000356340.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R	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						AGGGAGCCCAGGAGAGAAGGG	0.632																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1606-1608)Gga>Aga		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						50	63	59					10																	71690264		1989	4146	6135	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71690264G>A	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.1606G>A	10.37:g.71690264G>A	ENSP00000381949:p.Gly536Arg					COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G536R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R	p.G536R			Q5TAT6	CODA1_HUMAN			28	2142	+			536			Triple-helical region 3 (COL3).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1606G>A	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.53|10.53	1.376013|1.376013	0.24857|0.24857	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.99537|.	-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11;-6.11|.	3.3|3.3	3.3|3.3	0.37823|0.37823	.|.	0.078700|.	0.49305|.	D|.	0.000152|.	D|D	0.90229|0.90229	0.6945|0.6945	H|H	0.99011|0.99011	4.4|4.4	0.58432|0.58432	D|D	0.999994|0.999994	D;D;D;D;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;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.998;1.0;0.999;0.999;1.0;0.999;0.999;0.999;1.0;0.999|.	D|D	0.94386|0.94386	0.7609|0.7609	10|5	0.87932|.	D|.	0|.	-4.2058|-4.2058	15.8568|15.8568	0.78983|0.78983	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	479;536;536;536;536;514;517;536;524;536;485;514;514;545;536;517;514;507;536|.	B9EGD2;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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	R|K	524;536;517;514;507;479;536;536;536;536;514;514;479;514;517;485|19	ENSP00000381946:G524R;ENSP00000381943:G536R;ENSP00000381940:G517R;ENSP00000381938:G514R;ENSP00000381936:G507R;ENSP00000381941:G479R;ENSP00000348695:G536R;ENSP00000381944:G536R;ENSP00000381945:G536R;ENSP00000381949:G536R;ENSP00000346553:G514R;ENSP00000350463:G514R;ENSP00000428057:G479R;ENSP00000430061:G514R;ENSP00000428342:G517R;ENSP00000430173:G485R|.	ENSP00000346553:G514R|.	G|R	+|+	1|2	0|0	COL13A1|COL13A1	71360270|71360270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.710000|0.710000	0.40934|0.40934	5.300000|5.300000	0.65721|0.65721	2.161000|2.161000	0.67846|0.67846	0.561000|0.561000	0.74099|0.74099	GGA|AGG		0.632	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		14	11	0	0	0	1	0	14	11					A	71690264	G	A	71690264	3	1	408	1	0	0	0	0	1	0	0	0	3670	1001	35	2	1720	2	COL13A1	10	71690264	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		71690264	63844483	9	35692											
STX3	6809	broad.mit.edu	37	chr11	59564807	59564807	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctgggcattttagcaTtgattattggactttccgtt	10	6	0	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:59564807T>C	ENST00000337979.4	+	10	1385	c.838T>C	c.(838-840)Ttg>Ctg	p.L280L	STX3_ENST00000535361.1_Silent_p.L243L|STX3_ENST00000529177.1_Intron|STX3_ENST00000437946.2_Intron|STX3_ENST00000300150.7_Silent_p.L249L	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	280					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CATTTTAGCATTGATTATTGG	0.388																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(727-729)Ttg>Ctg		syntaxin 3							274	243	253					11																	59564807		2201	4295	6496	SO:0001819	synonymous_variant	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59564807T>C	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.838T>C	11.37:g.59564807T>C						STX3_ENST00000337979.4_Silent_p.L280L|STX3_ENST00000529177.1_Intron|STX3_ENST00000437946.2_Intron|STX3_ENST00000300150.7_Silent_p.L249L	p.L243L			Q13277	STX3_HUMAN			9	1274	+			280			t-SNARE coiled-coil homology.		B4DME0|O43750|O43751|Q15360	Silent	SNP	ENST00000337979.4	37	c.727T>C	CCDS7975.1																																																																																				0.388	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		8	81	0	0	0	1	0	8	81					C	59564807	T	C	59564807	2	2	408	1	0	0	0	0	0	0	0	1	15345	1490	52	3		3	STX3	11	59564807	Silent	SNP	T	TCGA-RY-A840-01A-11D-A36O-08		59564807	75441709	10	35693											
LCP1	3936	broad.mit.edu	37	chr13	46717525	46717525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctggaagatgaccaggGcatctgataagtcactgaac	12	8	2	5			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr13:46717525G>A	ENST00000398576.2	-	15	1656	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.A423V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	423	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		GATGACCAGGGCATCTGATAA	0.413			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1267-1269)gCc>gTc		lymphocyte cytosolic protein 1 (L-plastin)							118	106	110					13																	46717525		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46717525G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1268C>T	13.37:g.46717525G>A	ENSP00000381581:p.Ala423Val					LCP1_ENST00000323076.2_Missense_Mutation_p.A423V	p.A423V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	15	1656	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	423			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1268C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551926	0.96501	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.95518	-3.73;-3.73	5.65	5.65	0.86999	Calponin homology domain (5);	0.047990	0.85682	D	0.000000	D	0.96880	0.8981	M	0.69823	2.125	0.80722	D	1	P	0.39831	0.69	P	0.52189	0.692	D	0.97148	0.9829	10	0.87932	D	0	-14.9553	18.7084	0.91646	0.0:0.0:1.0:0.0	.	423	P13796	PLSL_HUMAN	V	423	ENSP00000315757:A423V;ENSP00000381581:A423V	ENSP00000315757:A423V	A	-	2	0	LCP1	45615526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.660000	0.90430	0.555000	0.69702	GCC		0.413	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		3	58	0	0	0	1	0	3	58					A	46717525	G	A	46717525	3	1	408	1	0	0	0	0	1	0	0	0	8691	1203	42	2	635	2	LCP1	13	46717525	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		46717525	68452353	11	35694											
NEDD8	4738	broad.mit.edu	37	chr14	24687634	24687634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatctcctttccggtcaGcgtctgaaacaggcaatggt	9	12	4	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr14:24687634G>A	ENST00000250495.5	-	2	208	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L|MDP1_ENST00000396833.2_5'Flank|MDP1_ENST00000532557.1_5'Flank|MDP1_ENST00000288087.7_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	8		Interaction with UBE1C.			anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TTTCCGGTCAGCGTCTGAAAC	0.423																																						ENST00000250495.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(22-24)Ctg>Ttg		neural precursor cell expressed, developmentally down-regulated 8							223	187	199					14																	24687634		2203	4300	6503	SO:0001819	synonymous_variant	4738							g.chr14:24687634G>A	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.22C>T	14.37:g.24687634G>A						NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L	p.L8L	NM_006156.2	NP_006147.1				GBM - Glioblastoma multiforme(265;0.0186)	2	208	-								Q3SXN8|Q6LES6	Silent	SNP	ENST00000250495.5	37	c.22C>T	CCDS9621.1																																																																																				0.423	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156		3	23	0	0	0	1	0	3	23					A	24687634	G	A	24687634	2	1	408	1	0	0	0	0	0	0	0	1	10312	962	34	2		2	NEDD8	14	24687634	Silent	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		24687634	82661906	12	35695											
LRRK1	79705	broad.mit.edu	37	chr15	101528897	101528897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttggcttgccagcgaggGcacctgggggttgtgaagct	17	10	0	1	rs183858799		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr15:101528897G>A	ENST00000388948.3	+	5	851	c.492G>A	c.(490-492)ggG>ggA	p.G164G	LRRK1_ENST00000284395.5_Silent_p.G161G|LRRK1_ENST00000532029.2_Silent_p.G164G	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)			GCCAGCGAGGGCACCTGGGGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17180	0.0		0.001	False		,,,				2504	0.0					ENST00000284395.5																			0				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						c.(481-483)ggG>ggA		leucine-rich repeat kinase 1							71	75	73					15																	101528897		2011	4165	6176	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528897G>A	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.492G>A	15.37:g.101528897G>A						LRRK1_ENST00000388948.3_Silent_p.G164G|LRRK1_ENST00000532029.2_Silent_p.G164G	p.G161G			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	883	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		164						Silent	SNP	ENST00000388948.3	37	c.483G>A	CCDS42086.1																																																																																				0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		56	57	0	0	0	1	0	56	57					A	101528897	G	A	101528897	2	1	408	1	0	0	0	0	0	0	0	1	9032	1190	42	2		2	LRRK1	15	101528897	Silent	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		101528897	1002495	13	35696											
ACSM2B	348158	broad.mit.edu	37	chr16	20576155	20576155	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtccctgaacttttcGcagccaatgcatgttcaggc	9	12	1	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr16:20576155G>A	ENST00000329697.6	-	2	181	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAACTTTTCGCAGCCAATGC	0.493																																						ENST00000329697.6																			1	Substitution - Nonsense(1)	p.R5*(1)	breast(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(13-15)Cga>Tga		acyl-CoA synthetase medium-chain family member 2B							63	62	62					16																	20576155		2201	4300	6501	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20576155G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.13C>T	16.37:g.20576155G>A	ENSP00000327453:p.Arg5*					ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*	p.R5*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			2	181	-			5					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.13C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680203	0.88542	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	.	.	.	3.27	-3.12	0.05282	.	2.661960	0.01665	N	0.025335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	1.0797	3.5919	0.07991	0.5034:0.0:0.312:0.1846	.	.	.	.	X	5	.	ENSP00000327453:R5X	R	-	1	2	ACSM2B	20483656	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.025000	0.00640	-1.069000	0.03153	-0.362000	0.07510	CGA		0.493	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		31	27	0	0	0	1	0	31	27					A	20576155	G	A	20576155	4	1	408	1	0	0	0	0	0	1	0	0	184	1095	38	1	1772	1	ACSM2B	16	20576155	Nonsense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		20576155	69778598	14	35697											
KIAA0664	23277	broad.mit.edu	37	chr17	2594051	2594051	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgccacctcggctttcAgattctccaggtctttttgg	10	14	3	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr17:2594051A>T	ENST00000570628.2	-	26	3872	c.3767T>A	c.(3766-3768)cTg>cAg	p.L1256Q	CLUH_ENST00000538975.1_Missense_Mutation_p.L1256Q|RP11-74E22.6_ENST00000608984.1_lincRNA|CLUH_ENST00000435359.1_Missense_Mutation_p.L1256Q			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1256					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CTCGGCTTTCAGATTCTCCAG	0.662																																						ENST00000570628.1																			0											c.(3766-3768)cTg>cAg		clustered mitochondria (cluA/CLU1) homolog							27	30	29					17																	2594051		1880	4108	5988	SO:0001583	missense	23277							g.chr17:2594051A>T	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.3767T>A	17.37:g.2594051A>T	ENSP00000458986:p.Leu1256Gln					CLUH_ENST00000575014.1_Missense_Mutation_p.L1189Q|CLUH_ENST00000538975.1_Missense_Mutation_p.L1256Q|CLUH_ENST00000435359.1_Missense_Mutation_p.L1256Q	p.L1256Q							26	3872	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.3767T>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836634	0.71373	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82619	-1.63;-1.63	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000008	D	0.88157	0.6361	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;D	0.65010	0.825;0.931	D	0.87953	0.2725	10	0.44086	T	0.13	.	13.5161	0.61541	1.0:0.0:0.0:0.0	.	1256;1257	O75153;C9J6D7	K0664_HUMAN;.	Q	1256;1257;1256	ENSP00000388872:L1256Q;ENSP00000439628:L1256Q	ENSP00000320468:L1257Q	L	-	2	0	KIAA0664	2540801	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.660000	0.68018	1.920000	0.55613	0.482000	0.46254	CTG		0.662	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		4	52	0	0	0	1	0	4	52					T	2594051	A	T	2594051	3	4	408	1	0	0	0	0	1	0	0	0	8189	188	7	5	166	5	KIAA0664	17	2594051	Missense_Mutation	SNP	A	TCGA-RY-A840-01A-11D-A36O-08		2594051	78601159	15	35698											
SMARCA4	6597	broad.mit.edu	37	chr19	11134287	11134287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacgactcaagaaggaagtcGaggcccagttgcccgaaaag	13	10	1	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:11134287G>A	ENST00000429416.3	+	21	3234	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	985					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)				GAAGGAAGTCGAGGCCCAGTT	0.592			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(2953-2955)Gag>Aag		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							45	42	43					19																	11134287		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11134287G>A	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.2953G>A	19.37:g.11134287G>A	ENSP00000395654:p.Glu985Lys					SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E985K	p.E985K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			20	3237	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	985					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2953G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464052	0.96257	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.988;0.988;0.988;0.992;0.962;0.998;0.988;0.988	D	0.96239	0.9174	10	0.87932	D	0	-38.3625	16.9975	0.86372	0.0:0.0:1.0:0.0	.	985;985;985;985;985;205;985;985	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	K	985;985;1049;985;985;985;985;985	ENSP00000395654:E985K;ENSP00000350720:E985K;ENSP00000343896:E985K;ENSP00000445036:E985K;ENSP00000392837:E985K;ENSP00000397783:E985K;ENSP00000414727:E985K	ENSP00000343896:E985K	E	+	1	0	SMARCA4	10995287	1.000000	0.71417	0.930000	0.37139	0.933000	0.57130	9.411000	0.97342	2.542000	0.85734	0.655000	0.94253	GAG		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	10	0	0	0	1	0	8	10					A	11134287	G	A	11134287	3	1	408	1	0	0	0	0	1	0	0	0	14770	1059	37	1	3027	1	SMARCA4	19	11134287	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		11134287	47994696	16	35699											
CPAMD8	27151	broad.mit.edu	37	chr19	17015311	17015311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactgaagctcaagaatGtgcccttgtccacgtcccag	9	13	2	2			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:17015311G>A	ENST00000443236.1	-	31	4251	c.4220C>T	c.(4219-4221)aCa>aTa	p.T1407I	RN7SL835P_ENST00000579920.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1360						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						GCTCAAGAATGTGCCCTTGTC	0.582																																						ENST00000443236.1																			0				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						c.(4219-4221)aCa>aTa		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							94	101	99					19																	17015311		2006	4176	6182	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015311G>A	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.4220C>T	19.37:g.17015311G>A	ENSP00000402505:p.Thr1407Ile						p.T1407I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			31	4251	-			1360					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4220C>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.052|4.052	0.007271|0.007271	0.07866|0.07866	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.72|2.72	1.65|1.65	0.23941|0.23941	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.|0.268843	.|0.29073	.|U	.|0.013235	T|T	0.45115|0.45115	0.1326|0.1326	L|L	0.48986|0.48986	1.54|1.54	0.49483|0.49483	D|D	0.999796|0.999796	.|B	.|0.19445	.|0.036	.|B	.|0.16722	.|0.016	T|T	0.25117|0.25117	-1.0141|-1.0141	5|9	.|0.38643	.|T	.|0.18	.|.	5.5458|5.5458	0.17063|0.17063	0.2086:0.1637:0.6276:0.0|0.2086:0.1637:0.6276:0.0	.|.	.|1360	.|Q8IZJ3	.|CPMD8_HUMAN	Y|I	1418|1407	.|.	.|ENSP00000291440:T1407I	H|T	-|-	1|2	0|0	CPAMD8|CPAMD8	16876311|16876311	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	3.253000|3.253000	0.51469|0.51469	0.281000|0.281000	0.22233|0.22233	0.456000|0.456000	0.33151|0.33151	CAT|ACA		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		25	36	0	0	0	1	0	25	36					A	17015311	G	A	17015311	3	1	408	1	0	0	0	0	1	0	0	0	3795	1377	48	2	1626	2	CPAMD8	19	17015311	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	5881024	17015311	42113672	17	35700											
CCDC106	29903	broad.mit.edu	37	chr19	56160918	56160918	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcggtgccagctggAcaaattcatctcttctgctc	8	14	3	0			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:56160918A>C	ENST00000586790.1	+	3	1185	c.281A>C	c.(280-282)gAc>gCc	p.D94A	CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A|CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	94						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCAGCTGGACAAATTCATC	0.602																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(280-282)gAc>gCc		coiled-coil domain containing 106							66	62	63					19																	56160918		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160918A>C	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.281A>C	19.37:g.56160918A>C	ENSP00000465757:p.Asp94Ala					CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A|CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A	p.D94A			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	3	1185	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	94					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.281A>C	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831729	0.71258	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	L	0.48642	1.525	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.66666	-0.5866	9	0.48119	T	0.1	-33.6562	11.1849	0.48650	1.0:0.0:0.0:0.0	.	94	Q9BWC9	CC106_HUMAN	A	94	.	ENSP00000309681:D94A	D	+	2	0	CCDC106	60852730	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.497000	0.81536	1.556000	0.49512	0.379000	0.24179	GAC		0.602	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		10	3	0	0	0	1	0	10	3					C	56160918	A	C	56160918	3	2	408	1	0	0	0	0	1	0	0	0	2741	275	10	5	291	5	CCDC106	19	56160918	Missense_Mutation	SNP	A	TCGA-RY-A840-01A-11D-A36O-08	39145607	56160918	2968065	18	35701											
FAM65C	140876	broad.mit.edu	37	chr20	49236599	49236599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagaccgaccccttccGcagcgtgccgtacatcttgg	10	16	1	1	rs148432777		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:49236599G>A	ENST00000327979.2	-	3	592	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W|FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	61										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCCCTTCCGCAGCGTGCCG	0.547																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(181-183)Cgg>Tgg		family with sequence similarity 65, member C		G	TRP/ARG	0,4406		0,0,2203	103	93	96		181	-0.9	1	20	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM65C	NM_080829.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	61/947	49236599	1,13005	2203	4300	6503	SO:0001583	missense	140876							g.chr20:49236599G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.181C>T	20.37:g.49236599G>A	ENSP00000332663:p.Arg61Trp					FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W|FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W	p.R61W			Q96MK2	FA65C_HUMAN			3	592	-			61					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.181C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120374	0.37436	0.0	1.16E-4	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02395	4.31;4.31;4.31	3.93	-0.875	0.10628	.	0.067131	0.56097	D	0.000027	T	0.08223	0.0205	L	0.60455	1.87	0.35344	D	0.786735	D;D	0.76494	0.999;0.999	P;P	0.60886	0.855;0.88	T	0.02546	-1.1143	10	0.72032	D	0.01	-10.5372	11.3192	0.49410	0.0:0.0:0.3683:0.6317	.	65;61	F5H0X2;Q96MK2	.;FA65C_HUMAN	W	61;61;65	ENSP00000332663:R61W;ENSP00000045083:R61W;ENSP00000439802:R65W	ENSP00000045083:R61W	R	-	1	2	FAM65C	48670006	0.973000	0.33851	0.978000	0.43139	0.055000	0.15305	0.385000	0.20685	-0.325000	0.08577	0.561000	0.74099	CGG		0.547	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			56	59	0	0	0	1	0	56	59					A	49236599	G	A	49236599	3	1	408	1	0	0	0	0	1	0	0	0	5601	1086	38	1	2739	1	FAM65C	20	49236599	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		49236599	13788921	19	35702											
CDH4	1002	broad.mit.edu	37	chr20	60427938	60427938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaacggctccgtggaCgagggctccaagccaggtga	14	12	1	1	rs2229574	byFrequency	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2. {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)			GCTCCGTGGACGAGGGCTCCA	0.597													C|||	10	0.00199681	0.0	0.0043	5008	,	,		19177	0.001		0.005	False		,,,				2504	0.001					ENST00000360469.5																			0				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						c.(859-861)gaC>gaT		cadherin 4, type 1, R-cadherin (retinal)		C		4,4402	8.1+/-20.4	0,4,2199	203	165	178		861	1.1	1	20	dbSNP_134	178	51,8549	33.3+/-86.6	0,51,4249	no	coding-synonymous	CDH4	NM_001794.2		0,55,6448	TT,TC,CC		0.593,0.0908,0.4229		287/917	60427938	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427938C>T	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.861C>T	20.37:g.60427938C>T						CDH4_ENST00000543233.1_Silent_p.D213D	p.D287D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	949	+			287			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.861C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		43	86	0	0	0	1	0	43	86					T	60427938	C	T	60427938	2	4	408	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60427938	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	11191339	60427938	2597582	20	35703											
FAM3B	54097	broad.mit.edu	37	chr21	42694893	42694893	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgcctccttgtgtgcCtggtattcggggtacctgct	12	12	1	0			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:42694893C>G	ENST00000357985.2	+	2	209	c.63C>G	c.(61-63)gcC>gcG	p.A21A	FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398652.3_Silent_p.A60A|FAM3B_ENST00000479810.2_3'UTR	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	21					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCTTGTGTGCCTGGTATTCGG	0.607																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(178-180)gcC>gcG		family with sequence similarity 3, member B							217	160	179					21																	42694893		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42694893C>G	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"pancreatic-derived factor"	608617	"chromosome 21 open reading frame 11"	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.63C>G	21.37:g.42694893C>G						FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000357985.2_Silent_p.A21A	p.A60A			P58499	FAM3B_HUMAN			3	246	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	21						Silent	SNP	ENST00000357985.2	37	c.180C>G	CCDS13671.1																																																																																				0.607	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		35	36	0	0	0	1	0	35	36					G	42694893	C	G	42694893	2	3	408	1	0	0	0	0	0	0	0	1	5557	668	24	4		4	FAM3B	21	42694893	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		42694893	5435002	21	35704											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032420	46032420	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaagcccgtgtgctgcGtgtccatctgctctggagct	13	13	2	0	rs143687357		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:46032420G>C	ENST00000334662.2	+	1	425	c.403G>C	c.(403-405)Gtg>Ctg	p.V135L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	135	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						CGTGTGCTGCGTGTCCATCTG	0.632																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(403-405)Gtg>Ctg		keratin associated protein 10-8							177	141	153					21																	46032420		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032420G>C	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.403G>C	21.37:g.46032420G>C	ENSP00000335565:p.Val135Leu					TSPEAR_ENST00000323084.4_Intron	p.V135L	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	425	+			135			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.403G>C	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	a	0.708	-0.788418	0.02884	.	.	ENSG00000187766	ENST00000334662	T	0.00745	5.75	3.52	-7.03	0.01584	.	.	.	.	.	T	0.01222	0.0040	M	0.85945	2.785	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28004	-1.0057	9	0.29301	T	0.29	.	7.3344	0.26601	0.5969:0.179:0.2241:0.0	.	135	P60410	KR108_HUMAN	L	135	ENSP00000335565:V135L	ENSP00000335565:V135L	V	+	1	0	KRTAP10-8	44856848	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.342000	0.02645	-1.436000	0.01970	-0.643000	0.03959	GTG		0.632	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		79	102	0	0	0	1	0	79	102					C	46032420	G	C	46032420	3	2	408	1	0	0	0	0	1	0	0	0	8515	1145	40	4	405	4	KRTAP10-8	21	46032420	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	3337527	46032420	2097475	22	35705											
CACNA1F	778	broad.mit.edu	37	chrX	49062190	49062190	+	Frame_Shift_Del	DEL	C	C	-													ccactggatctgccgaggtaCccctcccccgctgcgccctc							TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chrX:49062190delC	ENST00000376265.2	-	47	5650	c.5589delG	c.(5587-5589)gggfs	p.G1863fs	AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1863					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)	TGCCGAGGTACCCCTCCCCCG	0.647																																						ENST00000376265.2																			0				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						c.(5587-5589)ggfs		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						41	32	35					X																	49062190		2203	4298	6501	SO:0001589	frameshift_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49062190delC	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.5589delG	X.37:g.49062190delC	ENSP00000365441:p.Gly1863fs					CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs	p.G1863fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			47	5650	-			1863					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Frame_Shift_Del	DEL	ENST00000376265.2	37	c.5589delG	CCDS35253.1																																																																																				0.647	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		8	2						8	2	---	---	---	---	-	49062190	C	-	49062190	7	5	408	1	0	1	0	1	0	0	0	0	2543	494	18	0	352	0	CACNA1F	23	49062190	Frame_Shift_Del	DEL	C	TCGA-RY-A840-01A-11D-A36O-08		49062190	106208370	23	35706											
INPP5B	3633	broad.mit.edu	37	chr1	38355310	38355310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctcgcagtccaaacttcTgcatggataaaatatgagcc	7	10	2	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:38355310T>C	ENST00000373026.1	-	8	956	c.956A>G	c.(955-957)cAg>cGg	p.Q319R	INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000373023.2_Missense_Mutation_p.Q319R|INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	319					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACTTCTGCATGGATAA	0.408																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(955-957)cAg>cGg		inositol polyphosphate-5-phosphatase, 75kDa							165	156	159					1																	38355310		1873	4097	5970	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38355310T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.956A>G	1.37:g.38355310T>C	ENSP00000362117:p.Gln319Arg					INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R|INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R|INPP5B_ENST00000373026.1_Missense_Mutation_p.Q319R	p.Q319R	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			9	1049	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	319					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.956A>G		.	.	.	.	.	.	.	.	.	.	T	15.38	2.817897	0.50633	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.96459	-3.13;-2.99;-2.99;-2.96;-4.02	5.85	5.85	0.93711	.	0.242590	0.37095	N	0.002250	D	0.93996	0.8077	M	0.70275	2.135	0.30573	N	0.763288	B;B	0.31077	0.205;0.307	B;B	0.21546	0.035;0.027	D	0.90368	0.4378	10	0.18276	T	0.48	.	12.1456	0.54022	0.0:0.0:0.2508:0.7492	.	319;239	P32019;P32019-2	I5P2_HUMAN;.	R	75;319;319;319;239;2	ENSP00000362118:Q75R;ENSP00000362114:Q319R;ENSP00000362117:Q319R;ENSP00000362115:Q239R;ENSP00000397748:Q2R	ENSP00000362114:Q319R	Q	-	2	0	INPP5B	38127897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.154000	0.64894	2.234000	0.73211	0.533000	0.62120	CAG		0.408	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		41	75	0	0	0	1	0	41	75					C	38355310	T	C	38355310	3	2	409	1	0	0	0	0	1	0	0	0	7755	1580	55	3	2089	3	INPP5B	1	38355310	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08		38355310	210895311	1	35707											
ATF6	22926	broad.mit.edu	37	chr1	161762027	161762027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaactccagtgttccaGcaaaaaccatcattattcag	4	11	2	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:161762027G>A	ENST00000367942.3	+	6	665	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	200				VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997). {ECO:0000305}.	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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGTGTTCCAGCAAAAACCAT	0.423																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(598-600)Gca>Aca		activating transcription factor 6							195	198	197					1																	161762027		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161762027G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.598G>A	1.37:g.161762027G>A	ENSP00000356919:p.Ala200Thr						p.A200T	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		6	665	+	all_hematologic(112;0.156)		200	VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997).				O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.598G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131198	0.21041	.	.	ENSG00000118217	ENST00000367942	T	0.16196	2.36	5.51	3.3	0.37823	.	0.233302	0.42964	N	0.000640	T	0.04452	0.0122	L	0.46157	1.445	0.30652	N	0.755352	B;B	0.24651	0.028;0.108	B;B	0.19391	0.019;0.025	T	0.30794	-0.9966	9	0.16420	T	0.52	-7.3334	6.1981	0.20561	0.1883:0.1592:0.6525:0.0	.	200;201	P18850;Q59H30	ATF6A_HUMAN;.	T	200	ENSP00000356919:A200T	ENSP00000356919:A200T	A	+	1	0	ATF6	160028651	1.000000	0.71417	0.816000	0.32577	0.404000	0.30871	1.455000	0.35190	1.323000	0.45263	-0.140000	0.14226	GCA		0.423	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	196	0	0	0	1	0	4	196					A	161762027	G	A	161762027	3	1	409	1	0	0	0	0	1	0	0	0	1084	971	34	2	620	2	ATF6	1	161762027	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	123406717	161762027	87488594	2	35708											
C1orf107	27042	broad.mit.edu	37	chr1	210012341	210012341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgacagcaagaagaaaAtcattgtgagcaacaaaaag	11	5	1	4			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:210012341A>G	ENST00000491415.2	+	7	1207	c.1150A>G	c.(1150-1152)Atc>Gtc	p.I384V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	384					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						CAAGAAGAAAATCATTGTGAG	0.507																																						ENST00000491415.2																			0				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						c.(1150-1152)Atc>Gtc		digestive organ expansion factor homolog (zebrafish)							148	144	145					1																	210012341		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210012341A>G	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.1150A>G	1.37:g.210012341A>G	ENSP00000419005:p.Ile384Val						p.I384V	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			7	1207	+			384					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1150A>G	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356960	0.24598	.	.	ENSG00000117597	ENST00000491415	T	0.41400	1.0	5.95	5.95	0.96441	.	0.241284	0.48767	D	0.000161	T	0.19927	0.0479	N	0.04090	-0.28	0.38171	D	0.939328	B	0.06786	0.001	B	0.06405	0.002	T	0.22730	-1.0208	10	0.13108	T	0.6	-11.2857	10.7126	0.45993	0.9294:0.0:0.0706:0.0	.	384	Q68CQ4	DIEXF_HUMAN	V	384	ENSP00000419005:I384V	ENSP00000419005:I384V	I	+	1	0	DIEXF	208078964	1.000000	0.71417	0.932000	0.37286	0.989000	0.77384	3.061000	0.49963	2.279000	0.76181	0.533000	0.62120	ATC		0.507	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		22	46	0	0	0	1	0	22	46					G	210012341	A	G	210012341	3	3	409	1	0	0	0	0	1	0	0	0	1981	101	4	3	1176	3	C1orf107	1	210012341	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08	48250314	210012341	39238280	3	35709											
C1orf65	164127	broad.mit.edu	37	chr1	223567708	223567708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcagaaggtccagatgacCctggagcgggagcgccggct	16	11	1	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:223567708C>T	ENST00000366875.3	+	1	994	c.891C>T	c.(889-891)acC>acT	p.T297T		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		297										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGATGACCCTGGAGCGGG	0.672																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(889-891)acC>acT		chromosome 1 open reading frame 65							9	10	10					1																	223567708		2181	4274	6455	SO:0001819	synonymous_variant	164127							g.chr1:223567708C>T																												ENST00000366875.3:c.891C>T	1.37:g.223567708C>T							p.T297T	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	994	+			297					Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.891C>T	CCDS1537.1																																																																																				0.672	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			3	6	0	0	0	1	0	3	6					T	223567708	C	T	223567708	2	4	409	1	0	0	0	0	0	0	0	1	2055	610	22	2		2	C1orf65	1	223567708	Silent	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	13555367	223567708	25682913	4	35710											
GGPS1	9453	broad.mit.edu	37	chr1	235505740	235505740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttgggctctttttccaaAttagggatgattatgctaat	8	7	1	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:235505740A>G	ENST00000282841.5	+	4	788	c.556A>G	c.(556-558)Att>Gtt	p.I186V	GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V|GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	186					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	CTTTTTCCAAATTAGGGATGA	0.358																																						ENST00000282841.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8						c.(556-558)Att>Gtt		geranylgeranyl diphosphate synthase 1							104	111	108					1																	235505740		2203	4300	6503	SO:0001583	missense	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235505740A>G	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.556A>G	1.37:g.235505740A>G	ENSP00000282841:p.Ile186Val					GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V	p.I186V			O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		4	788	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	186					A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	c.556A>G	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929439	0.73327	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.80028	2.48	0.80722	D	1	D	0.56521	0.976	D	0.64595	0.927	T	0.82942	-0.0207	10	0.51188	T	0.08	-18.6526	16.8222	0.85835	1.0:0.0:0.0:0.0	.	186	O95749	GGPPS_HUMAN	V	186;186;186;186;132;186;186	ENSP00000418690:I186V;ENSP00000417772:I186V;ENSP00000351852:I186V;ENSP00000282841:I186V;ENSP00000375728:I132V;ENSP00000420183:I186V;ENSP00000417865:I186V	ENSP00000282841:I186V	I	+	1	0	GGPS1	233572363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	ATT		0.358	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		22	51	0	0	0	1	0	22	51					G	235505740	A	G	235505740	3	3	409	1	0	0	0	0	1	0	0	0	6360	101	4	3	566	3	GGPS1	1	235505740	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08	11938032	235505740	13744881	5	35711											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	44	0	0	0	1	0	18	44					T	209113112	C	T	209113112	3	4	409	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		209113112	34086261	6	35712											
PITX1	5307	broad.mit.edu	37	chr5	134367042	134367042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggggtagcggttcctcTggaacgtggcctctagctct	14	11	3	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr5:134367042T>C	ENST00000265340.7	-	2	742	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R|CTC-349C3.1_ENST00000432382.3_5'Flank	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	109					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGGTTCCTCTGGAACGTGGC	0.647																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(325-327)cAg>cGg		paired-like homeodomain 1							123	100	108					5																	134367042		2203	4300	6503	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134367042T>C	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"Homeoboxes / PRD class"	9004	protein-coding gene	gene with protein product		602149	"paired-like homeodomain transcription factor 1"	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.326A>G	5.37:g.134367042T>C	ENSP00000265340:p.Gln109Arg					PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R	p.Q109R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	2	742	-			109					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.326A>G	CCDS4182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.066667|5.066667	0.93898|0.93898	.|.	.|.	ENSG00000069011|ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676|ENST00000503586	D;D;D;D|.	0.96168|.	-3.93;-3.93;-3.93;-3.93|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57814|0.57814	0.2079|0.2079	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.62955|.	0.909|.	T|T	0.55685|0.55685	-0.8102|-0.8102	10|5	0.72032|.	D|.	0.01|.	.|.	13.9082|13.9082	0.63850|0.63850	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	109|.	P78337|.	PITX1_HUMAN|.	R|G	109|150	ENSP00000265340:Q109R;ENSP00000427542:Q109R;ENSP00000422908:Q109R;ENSP00000423624:Q109R|.	ENSP00000265340:Q109R|.	Q|R	-|-	2|1	0|2	PITX1|PITX1	134394941|134394941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.934000|7.934000	0.87649|0.87649	1.755000|1.755000	0.51935|0.51935	0.460000|0.460000	0.39030|0.39030	CAG|AGA		0.647	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			22	24	0	0	0	1	0	22	24					C	134367042	T	C	134367042	3	2	409	1	0	0	0	0	1	0	0	0	11954	1580	55	3	626	3	PITX1	5	134367042	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08		134367042	46548218	7	35713											
SENP6	26054	broad.mit.edu	37	chr6	76412532	76412533	+	Frame_Shift_Ins	INS	-	-	A													gttcacaaaactcttctgccINSaagcctgtaattaagaagat							TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:76412532_76412533insA	ENST00000447266.2	+	19	2938_2939	c.2460_2461insA	c.(2461-2463)aagfs	p.K821fs	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.K814fs|SENP6_ENST00000370014.3_Frame_Shift_Ins_p.K821fs	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	821	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACTCTTCTGCCAAGCCTGTAAT	0.381																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2458-2463)gcagccfs		SUMO1/sentrin specific peptidase 6																																				SO:0001589	frameshift_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412532_76412533insA		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2462dupA	6.37:g.76412534_76412534dupA	ENSP00000402527:p.Lys821fs					SENP6_ENST00000541192.1_Intron|SENP6_ENST00000447266.2_Frame_Shift_Ins_p.A821fs|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.A814fs	p.A821fs	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	3079_3080	+		all_hematologic(105;0.189)	821			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Frame_Shift_Ins	INS	ENST00000447266.2	37	c.2460_2461insA	CCDS47454.1																																																																																				0.381	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		20	54						20	54	---	---	---	---	A	76412533	-	A	76412532	7	5	409	1	0	1	1	0	0	0	0	0	14050	581	21	0	2534	0	SENP6	6	76412532	Frame_Shift_Ins	INS	-	TCGA-RY-A843-01A-11D-A36O-08		76412532	94702535	8	35714											
RBPMS	11030	broad.mit.edu	37	chr8	30335338	30335338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagggttctcttataaaGctcacatctaaacaggtaag	8	7	3	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:30335338G>A	ENST00000320203.4	+	3	750	c.168G>A	c.(166-168)aaG>aaA	p.K56K	RBPMS_ENST00000339877.4_Silent_p.K56K|RBPMS_ENST00000538486.1_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		CTCTTATAAAGCTCACATCTA	0.323																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(166-168)aaG>aaA		RNA binding protein with multiple splicing							135	132	133					8																	30335338		2202	4300	6502	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30335338G>A	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.168G>A	8.37:g.30335338G>A						RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000339877.4_Silent_p.K56K|RBPMS_ENST00000397323.4_Silent_p.K56K|RBPMS_ENST00000538486.1_Silent_p.K56K	p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	3	750	+			56			RRM.		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.168G>A	CCDS6077.1																																																																																				0.323	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			12	25	0	0	0	1	0	12	25					A	30335338	G	A	30335338	2	1	409	1	0	0	0	0	0	0	0	1	13163	962	34	2		2	RBPMS	8	30335338	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		30335338	116028684	9	35715											
TMEM74	157753	broad.mit.edu	37	chr8	109796648	109796648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcacacagcggtccaggTgagcccccagcctcgcactc	9	18	1	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:109796648T>C	ENST00000297459.3	-	2	858	c.680A>G	c.(679-681)cAc>cGc	p.H227R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	227					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)			GCGGTCCAGGTGAGCCCCCAG	0.612																																						ENST00000297459.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(679-681)cAc>cGc		transmembrane protein 74							57	55	56					8																	109796648		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796648T>C	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.680A>G	8.37:g.109796648T>C	ENSP00000297459:p.His227Arg					TMEM74_ENST00000518838.1_Intron	p.H227R	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	858	-			227						Missense_Mutation	SNP	ENST00000297459.3	37	c.680A>G	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177359	0.78564	.	.	ENSG00000164841	ENST00000297459	T	0.16457	2.34	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.24297	-1.0164	10	0.72032	D	0.01	-17.7025	15.6293	0.76888	0.0:0.0:0.0:1.0	.	227	Q96NL1	TMM74_HUMAN	R	227	ENSP00000297459:H227R	ENSP00000297459:H227R	H	-	2	0	TMEM74	109865824	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.868000	0.87116	2.276000	0.75962	0.528000	0.53228	CAC		0.612	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		12	30	0	0	0	1	0	12	30					C	109796648	T	C	109796648	3	2	409	1	0	0	0	0	1	0	0	0	16199	1696	59	3	241	3	TMEM74	8	109796648	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08	79461310	109796648	36567374	10	35716											
ASAP1	50807	broad.mit.edu	37	chr8	131104362	131104362	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagaggtctgggtgcttagaGggagtgttgaaggtgggcca	19	4	1	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:131104362G>C	ENST00000518721.1	-	25	2656	c.2429C>G	c.(2428-2430)cCt>cGt	p.P810R	ASAP1_ENST00000357668.1_Missense_Mutation_p.P810R	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	810	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						GGTGCTTAGAGGGAGTGTTGA	0.537																																						ENST00000357668.1																			0				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						c.(2428-2430)cCt>cGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							83	81	82					8																	131104362		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131104362G>C	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.2429C>G	8.37:g.131104362G>C	ENSP00000429900:p.Pro810Arg					ASAP1_ENST00000518721.1_Missense_Mutation_p.P810R	p.P810R			Q9ULH1	ASAP1_HUMAN			24	2456	-			810			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2429C>G	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065314	0.76187	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06687	3.27;3.27	5.3	5.3	0.74995	.	0.614995	0.18796	N	0.130912	T	0.16471	0.0396	L	0.50333	1.59	0.80722	D	1	P;P;P	0.52061	0.917;0.917;0.95	B;B;P	0.49887	0.421;0.421;0.625	T	0.00745	-1.1584	10	0.38643	T	0.18	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	810;810;813	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	R	813;810;810	ENSP00000350297:P810R;ENSP00000429900:P810R	ENSP00000344591:P813R	P	-	2	0	ASAP1	131173544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.773000	0.91762	2.639000	0.89480	0.455000	0.32223	CCT		0.537	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		12	28	0	0	0	1	0	12	28					C	131104362	G	C	131104362	3	2	409	1	0	0	0	0	1	0	0	0	1010	1000	35	4	984	4	ASAP1	8	131104362	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	21307714	131104362	15259660	11	35717											
LAMC3	10319	broad.mit.edu	37	chr9	133948658	133948658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggaaggtcccagtcaGccgaccaaatggagccacct	10	15	2	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr9:133948658G>A	ENST00000361069.4	+	20	3577	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1148	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCCCAGTCAGCCGACCAAAT	0.582																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3442-3444)caG>caA		laminin, gamma 3							51	53	52					9																	133948658		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948658G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3444G>A	9.37:g.133948658G>A						LAMC3_ENST00000480883.1_Intron	p.Q1148Q	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	20	3577	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1148			Domain II and I.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.3444G>A	CCDS6938.1																																																																																				0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		20	21	0	0	0	1	0	20	21					A	133948658	G	A	133948658	2	1	409	1	0	0	0	0	0	0	0	1	8616	962	34	2		2	LAMC3	9	133948658	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		133948658	7264773	12	35718											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052057	81052057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctacagccacagccacgGccactgtggcagccctgcag	11	17	0	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:81052057G>A	ENST00000334512.5	+	11	1473	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	301	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCCACGGCCACTGTGGC	0.637																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(901-903)Gcc>Acc		zinc finger, MIZ-type containing 1							50	53	52					10																	81052057		2173	4240	6413	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052057G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.901G>A	10.37:g.81052057G>A	ENSP00000334474:p.Ala301Thr					ZMIZ1_ENST00000478357.1_3'UTR	p.A301T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1473	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		301			Ala-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.901G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609914	0.96637	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.40225	1.04	5.16	5.16	0.70880	.	0.000000	0.39544	U	0.001329	T	0.63792	0.2541	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.824	T	0.62435	-0.6855	10	0.39692	T	0.17	-14.2732	18.6528	0.91437	0.0:0.0:1.0:0.0	.	211;301	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	301;231;207	ENSP00000334474:A301T	ENSP00000334474:A301T	A	+	1	0	ZMIZ1	80722063	1.000000	0.71417	0.995000	0.50966	0.877000	0.50540	9.111000	0.94308	2.399000	0.81585	0.563000	0.77884	GCC		0.637	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		21	58	0	0	0	1	0	21	58					A	81052057	G	A	81052057	3	1	409	1	0	0	0	0	1	0	0	0	17693	1203	42	2	927	2	ZMIZ1	10	81052057	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		81052057	54482690	13	35719											
TNKS2	80351	broad.mit.edu	37	chr10	93590772	93590772	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcaatgaaaagactaaagaGtaagtatacatttaatgatt	6	3	1	4			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:93590772G>C	ENST00000371627.4	+	10	1575		c.e10+1			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						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)			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)				AGACTAAAGAGTAAGTATACA	0.313																																						ENST00000371627.4																			0				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						c.e10+1		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							97	92	94					10																	93590772		2203	4300	6503	SO:0001630	splice_region_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93590772G>C	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.1196+1G>C	10.37:g.93590772G>C								NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			10	1575	+		Colorectal(252;0.162)						B2RBD3|Q9H8F2|Q9HAS4	Splice_Site	SNP	ENST00000371627.4	37		CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527893	0.85706	.	.	ENSG00000107854	ENST00000371627	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNKS2	93580752	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.441000	0.97557	2.718000	0.92993	0.655000	0.94253	.		0.313	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	Intron	3	49	0	0	0	1	0	3	49					C	93590772	G	C	93590772	5	2	409	1	0	0	0	0	0	0	1	0	16318	1043	36	4	1235	4	TNKS2	10	93590772	Splice_Site	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	12538715	93590772	41943975	14	35720											
CALHM1	255022	broad.mit.edu	37	chr10	105215289	105215289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtgacccagctccagGtcatggttcatggcctcgaa	13	11	2	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:105215289G>A	ENST00000329905.5	-	2	907	c.771C>T	c.(769-771)gaC>gaT	p.D257D	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	257					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCAGCTCCAGGTCATGGTTCA	0.637																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(769-771)gaC>gaT		calcium homeostasis modulator 1							84	60	68					10																	105215289		2203	4300	6503	SO:0001819	synonymous_variant	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215289G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.771C>T	10.37:g.105215289G>A						RP11-225H22.4_ENST00000411906.1_RNA	p.D257D	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			2	907	-			257					Q5W091	Silent	SNP	ENST00000329905.5	37	c.771C>T	CCDS7550.1																																																																																				0.637	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		5	14	0	0	0	1	0	5	14					A	105215289	G	A	105215289	2	1	409	1	0	0	0	0	0	0	0	1	2582	1252	44	2		2	CALHM1	10	105215289	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	11624517	105215289	30319458	15	35721											
KNDC1	85442	broad.mit.edu	37	chr10	135003172	135003172	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagccaccccctgccaaCggtgagtgtgtgggttcccc	11	16	0	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:135003172C>T	ENST00000304613.3	+	8	1533	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	KNDC1_ENST00000368572.2_Splice_Site_p.N504N|KNDC1_ENST00000368571.2_Splice_Site_p.N439N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	504	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCTGCCAACGGTGAGTGTG	0.622																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.e8+1		kinase non-catalytic C-lobe domain (KIND) containing 1							99	88	91					10																	135003172		2202	4299	6501	SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135003172C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1513+1C>T	10.37:g.135003172C>T						KNDC1_ENST00000368571.2_Splice_Site_p.N439_splice|KNDC1_ENST00000368572.2_Splice_Site_p.N504_splice	p.N504_splice			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	8	1533	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	504			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	SNP	ENST00000304613.3	37	c.1513_splice	CCDS7674.1																																																																																				0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Silent	5	17	0	0	0	1	0	5	17					T	135003172	C	T	135003172	5	4	409	1	0	0	0	0	0	0	1	0	8426	550	19	1	1542	1	KNDC1	10	135003172	Splice_Site	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	29787883	135003172	531575	16	35722											
KRAS	3845	broad.mit.edu	37	chr12	25398269	25398269	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttagctgtatcgtcaaggcaCtcttgcctacgccaccagct	8	14	2	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398269C>G	ENST00000256078.4	-	2	113	c.50G>C	c.(49-51)aGt>aCt	p.S17T	KRAS_ENST00000556131.1_Missense_Mutation_p.S17T|KRAS_ENST00000311936.3_Missense_Mutation_p.S17T|KRAS_ENST00000557334.1_Missense_Mutation_p.S17T	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	17					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.S17N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CGTCAAGGCACTCTTGCCTAC	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	1	Substitution - Missense(1)	p.S17N(1)	salivary_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(49-51)aGt>aCt		Kirsten rat sarcoma viral oncogene homolog							91	80	84					12																	25398269		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398269C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.50G>C	12.37:g.25398269C>G	ENSP00000256078:p.Ser17Thr	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.S17T|KRAS_ENST00000556131.1_Missense_Mutation_p.S17T|KRAS_ENST00000256078.4_Missense_Mutation_p.S17T	p.S17T	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	241	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		17					A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.50G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102426	0.94245	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;0.15;0.15;0.15	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	N	0.16307	0.4	0.80722	D	1	P;D	0.63880	0.914;0.993	P;P	0.61132	0.612;0.884	T	0.81752	-0.0789	10	0.62326	D	0.03	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	17;17	P01116-2;P01116	.;RASK_HUMAN	T	17	ENSP00000308495:S17T;ENSP00000452512:S17T;ENSP00000256078:S17T;ENSP00000451856:S17T	ENSP00000256078:S17T	S	-	2	0	KRAS	25289536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	AGT		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	24	0	0	0	1	0	11	24					G	25398269	C	G	25398269	3	3	409	1	0	0	0	0	1	0	0	0	8438	565	20	4	656	4	KRAS	12	25398269	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		25398269	108453626	17	35723			1	42		2	2	16	C		1.502084e-05
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gCt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	24	0	0	0	1	0	12	24					G	25398284	C	G	25398284	3	3	409	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	15	25398284	108453611	18	35724			1	42		2	2	16	C		1.502084e-05
KRT6B	3854	broad.mit.edu	37	chr12	52841730	52841730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttagcatccttgaggGccatctccccacgctgctca	8	15	3	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:52841730G>A	ENST00000252252.3	-	7	1303	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	419	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ATCCTTGAGGGCCATCTCCCC	0.577																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1255-1257)gCc>gTc		keratin 6B							111	101	105					12																	52841730		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841730G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1256C>T	12.37:g.52841730G>A	ENSP00000252252:p.Ala419Val						p.A419V	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	7	1303	-			419			Coil 2.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1256C>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589515	0.66105	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75589	-0.95	2.65	2.65	0.31530	Filament (1);	0.000000	0.64402	D	0.000017	D	0.87838	0.6278	M	0.91196	3.185	0.41763	D	0.989721	D	0.89917	1.0	D	0.80764	0.994	D	0.91298	0.5064	10	0.87932	D	0	.	14.4594	0.67438	0.0:0.0:1.0:0.0	.	419	P04259	K2C6B_HUMAN	V	419;379	ENSP00000252252:A419V	ENSP00000252252:A419V	A	-	2	0	KRT6B	51127997	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	4.295000	0.59049	1.806000	0.52798	0.305000	0.20034	GCC		0.577	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		5	74	0	0	0	1	0	5	74					A	52841730	G	A	52841730	3	1	409	1	0	0	0	0	1	0	0	0	8481	1203	42	2	450	2	KRT6B	12	52841730	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	27443446	52841730	81010165	19	35725											
VPS18	57617	broad.mit.edu	37	chr15	41191890	41191890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggatgatgggggatggtGtgttgtatggggcattggac	19	4	0	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr15:41191890G>T	ENST00000220509.5	+	4	1213	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	292					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)		GGGGGATGGTGTGTTGTATGG	0.652																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(874-876)Gtg>Ttg		vacuolar protein sorting 18 homolog (S. cerevisiae)							70	69	69					15																	41191890		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191890G>T	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.874G>T	15.37:g.41191890G>T	ENSP00000220509:p.Val292Leu					VPS18_ENST00000558474.1_Intron	p.V292L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1213	+		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)	292					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.874G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215338	0.79352	.	.	ENSG00000104142	ENST00000220509	T	0.52983	0.64	4.81	4.81	0.61882	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.43152	1.355	0.80722	D	1	P	0.41597	0.756	B	0.42882	0.401	T	0.34900	-0.9810	10	0.30854	T	0.27	-34.0858	18.4344	0.90640	0.0:0.0:1.0:0.0	.	292	Q9P253	VPS18_HUMAN	L	292	ENSP00000220509:V292L	ENSP00000220509:V292L	V	+	1	0	VPS18	38979182	1.000000	0.71417	0.405000	0.26409	0.958000	0.62258	9.601000	0.98297	2.646000	0.89796	0.655000	0.94253	GTG		0.652	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			21	47	1	0	1.00905e-13	1	1.00905e-13	21	47					T	41191890	G	T	41191890	3	4	409	1	0	0	0	0	1	0	0	0	17191	1377	48	4	888	4	VPS18	15	41191890	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		41191890	61339502	20	35726											
DDX42	11325	broad.mit.edu	37	chr17	61890672	61890672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacacgcataggattgGccgcacaggaagagcgggtg	14	11	0	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:61890672G>A	ENST00000578681.1	+	16	2361	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	DDX42_ENST00000583590.1_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000389924.2_Missense_Mutation_p.G587D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	587	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATAGGATTGGCCGCACAGGA	0.498																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1759-1761)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box helicase 42							112	93	99					17																	61890672		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61890672G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1760G>A	17.37:g.61890672G>A	ENSP00000464050:p.Gly587Asp					DDX42_ENST00000389924.2_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000583590.1_Missense_Mutation_p.G587D	p.G587D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			16	2361	+			587			Helicase C-terminal.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1760G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329854	0.95733	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.19669	2.13;2.13	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	H	0.99689	4.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84200	0.0450	10	0.87932	D	0	-15.9729	18.809	0.92050	0.0:0.0:1.0:0.0	.	133;587	B3KV84;Q86XP3	.;DDX42_HUMAN	D	587	ENSP00000374574:G587D;ENSP00000390121:G587D	ENSP00000374574:G587D	G	+	2	0	DDX42	59244404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.923000	0.87546	2.764000	0.94973	0.650000	0.86243	GGC		0.498	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		12	32	0	0	0	1	0	12	32					A	61890672	G	A	61890672	3	1	409	1	0	0	0	0	1	0	0	0	4362	1203	42	2	1814	2	DDX42	17	61890672	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		61890672	19304538	21	35727											
DNAH17	8632	broad.mit.edu	37	chr17	76490800	76490800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagtctctcagcgcccGcatgagcacctggtcctctg	11	14	3	2	rs144975660	byFrequency	TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:76490800G>A	ENST00000585328.1	-	40	6254	c.6130C>T	c.(6130-6132)Cgg>Tgg	p.R2044W	DNAH17_ENST00000389840.5_Missense_Mutation_p.R2035W|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2035					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(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCGCCCGCATGAGCACC	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		16938	0.002		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6103-6105)Cgg>Tgg		dynein, axonemal, heavy chain 17							45	53	51					17																	76490800		2130	4260	6390	SO:0001583	missense	8632							g.chr17:76490800G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6130C>T	17.37:g.76490800G>A	ENSP00000465516:p.Arg2044Trp					DNAH17_ENST00000585328.1_Missense_Mutation_p.R2044W|RP11-559N14.5_ENST00000591373.1_RNA	p.R2035W					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		40	6227	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6103C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.84	2.656846	0.47467	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.33438	1.41	4.12	-3.59	0.04583	.	.	.	.	.	T	0.72882	0.3516	H	0.99842	4.835	0.37281	D	0.907828	.	.	.	.	.	.	D	0.83357	0.0000	7	0.87932	D	0	.	17.275	0.87112	0.0:0.0:0.7503:0.2497	.	.	.	.	W	2044;2035	ENSP00000374490:R2035W	ENSP00000300671:R2044W	R	-	1	2	DNAH17	74002395	0.995000	0.38212	0.973000	0.42090	0.383000	0.30230	0.229000	0.17833	-1.067000	0.03160	-0.535000	0.04281	CGG		0.627	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	40	0	0	0	1	0	3	40					A	76490800	G	A	76490800	3	1	409	1	0	0	0	0	1	0	0	0	4601	1086	38	1	7411	1	DNAH17	17	76490800	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	14600128	76490800	4704410	22	35728											
SMCHD1	23347	broad.mit.edu	37	chr18	2750108	2750108	+	Frame_Shift_Del	DEL	T	T	-													taatttgggagtattcagtgTttttgcccctaggtaagaac							TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:2750108delT	ENST00000320876.6	+	31	4333	c.3995delT	c.(3994-3996)gttfs	p.V1332fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1332					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTATTCAGTGTTTTTGCCCCT	0.368																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(3994-3996)gtfs		structural maintenance of chromosomes flexible hinge domain containing 1							123	111	115					18																	2750108		1842	4089	5931	SO:0001589	frameshift_variant	23347				chromosome organization		ATP binding	g.chr18:2750108delT	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3995delT	18.37:g.2750108delT	ENSP00000326603:p.Val1332fs					SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs|RP11-703M24.5_ENST00000583546.1_RNA	p.V1332fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			31	4333	+			1332					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	ENST00000320876.6	37	c.3995delT	CCDS45822.1																																																																																				0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			2	4						2	4	---	---	---	---	-	2750108	T	-	2750108	7	5	409	1	0	1	0	1	0	0	0	0	14788	1725	60	0	4117	0	SMCHD1	18	2750108	Frame_Shift_Del	DEL	T	TCGA-RY-A843-01A-11D-A36O-08		2750108	75327140	23	35729											
MLL4	9757	broad.mit.edu	37	chr19	36214058	36214058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatcacggcaagaagatgCgcatggctcgatgtggacac	12	12	1	2			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36214058C>T	ENST00000222270.7	+	6	2884	c.2884C>T	c.(2884-2886)Cgc>Tgc	p.R962C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R962C	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	962					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CAAGAAGATGCGCATGGCTCG	0.637																																						ENST00000222270.7																			0											c.(2884-2886)Cgc>Tgc									51	60	57					19																	36214058		2137	4248	6385	SO:0001583	missense	0							g.chr19:36214058C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2884C>T	19.37:g.36214058C>T	ENSP00000222270:p.Arg962Cys					WBP7_ENST00000420124.1_Missense_Mutation_p.R962C|KMT2B_ENST00000607650.1_RNA	p.R962C	NM_014727.1	NP_055542.1					6	2884	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2884C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672682	0.47781	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88431	-2.38;-2.38	5.56	3.35	0.38373	Zinc finger, CXXC-type (2);	0.000000	0.40144	N	0.001163	D	0.94374	0.8191	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94387	0.7610	10	0.87932	D	0	.	13.3678	0.60696	0.2965:0.7035:0.0:0.0	.	962	Q9UMN6	MLL4_HUMAN	C	962	ENSP00000222270:R962C;ENSP00000398837:R962C	ENSP00000222270:R962C	R	+	1	0	AD000671.1	40905898	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	1.311000	0.33562	0.629000	0.30376	0.655000	0.94253	CGC		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		3	43	0	0	0	1	0	3	43					T	36214058	C	T	36214058	3	4	409	1	0	0	0	0	1	0	0	0	9623	768	27	1	2906	1	MLL4	19	36214058	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		36214058	22914925	24	35730											
ZNF565	147929	broad.mit.edu	37	chr19	36674609	36674609	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaaaaatgtctttttgtaGaaatttctcacacctggact	5	8	3	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36674609G>A	ENST00000355114.5	-	5	1105	c.379C>T	c.(379-381)Cta>Tta	p.L127L	ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	127					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTTTTTGTAGAAATTTCTCA	0.383																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(379-381)Cta>Tta		zinc finger protein 565							79	84	82					19																	36674609		2197	4299	6496	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674609G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.379C>T	19.37:g.36674609G>A						ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L	p.L127L			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1105	-	Esophageal squamous(110;0.162)		87					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.379C>T																																																																																					0.383	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		26	62	0	0	0	1	0	26	62					A	36674609	G	A	36674609	2	1	409	1	0	0	0	0	0	0	0	1	17993	933	33	2		2	ZNF565	19	36674609	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	460551	36674609	22454374	25	35731											
FOXA2	3170	broad.mit.edu	37	chr20	22563350	22563350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggggctctgctggatgGccatggtgatgagcgagatg	18	6	1	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:22563350G>A	ENST00000377115.4	-	3	693	c.512C>T	c.(511-513)gCc>gTc	p.A171V	FOXA2_ENST00000419308.2_Missense_Mutation_p.A177V	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	171					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)			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)					CTGCTGGATGGCCATGGTGAT	0.637																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(511-513)gCc>gTc		forkhead box A2							127	110	116					20																	22563350		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563350G>A	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.512C>T	20.37:g.22563350G>A	ENSP00000366319:p.Ala171Val					FOXA2_ENST00000377115.4_Missense_Mutation_p.A171V|FOXA2_ENST00000319993.4_Missense_Mutation_p.A177V	p.A171V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	714	-	Lung NSC(19;0.188)		171					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.512C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731114	0.89390	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.98164	-4.76;-4.76;-4.76	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000014	D	0.99127	0.9699	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.99537	1.0962	10	0.87932	D	0	.	17.8574	0.88769	0.0:0.0:1.0:0.0	.	171;177	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	V	171;171;177;57	ENSP00000366319:A171V;ENSP00000400341:A171V;ENSP00000315955:A177V	ENSP00000315955:A177V	A	-	2	0	FOXA2	22511350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.304000	0.77564	0.574000	0.79327	GCC		0.637	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			18	52	0	0	0	1	0	18	52					A	22563350	G	A	22563350	3	1	409	1	0	0	0	0	1	0	0	0	5990	1203	42	2	865	2	FOXA2	20	22563350	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		22563350	40462170	26	35732											
PDRG1	81572	broad.mit.edu	37	chr20	30539716	30539716	+	Frame_Shift_Del	DEL	C	C	-													cacctcctcggcgagctcctCcacttctacaaggtaccgca							TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:30539716delC	ENST00000202017.4	-	1	179	c.49delG	c.(49-51)gagfs	p.E18fs		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	18					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGAGCTCCTCCACTTCTACA	0.711											OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000202017.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8						c.(49-51)agfs		p53 and DNA-damage regulated 1							26	23	24					20																	30539716		2199	4297	6496	SO:0001589	frameshift_variant	81572				protein folding	prefoldin complex	unfolded protein binding	g.chr20:30539716delC	AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"chromosome 20 open reading frame 126"	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.49delG	20.37:g.30539716delC	ENSP00000202017:p.Glu18fs		OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	102		p.E18fs	NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	179	-			18					B2R511|Q96GP3|Q9BUW8	Frame_Shift_Del	DEL	ENST00000202017.4	37	c.49delG	CCDS13194.1																																																																																				0.711	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078593.2	NM_030815		2	4						2	4	---	---	---	---	-	30539716	C	-	30539716	7	5	409	1	0	1	0	1	0	0	0	0	11690	864	30	0	372	0	PDRG1	20	30539716	Frame_Shift_Del	DEL	C	TCGA-RY-A843-01A-11D-A36O-08	7976366	30539716	32485804	27	35733											
TMPRSS15	5651	broad.mit.edu	37	chr21	19726144	19726144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacttggttggaaaaaAttcttattgtgccaggatta	9	5	1	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr21:19726144A>G	ENST00000284885.3	-	9	950	c.917T>C	c.(916-918)aTt>aCt	p.I306T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	306	CUB 1. {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						GTTGGAAAAAATTCTTATTGT	0.323																																						ENST00000284885.3																			0				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						c.(916-918)aTt>aCt		transmembrane protease, serine 15							69	75	73					21																	19726144		2203	4291	6494	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19726144A>G		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.917T>C	21.37:g.19726144A>G	ENSP00000284885:p.Ile306Thr						p.I306T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			9	950	-			306			CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.917T>C	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395124	0.62066	.	.	ENSG00000154646	ENST00000284885	T	0.32988	1.43	4.46	4.46	0.54185	CUB (5);	0.088509	0.48767	D	0.000162	T	0.41834	0.1176	L	0.33137	0.985	0.39323	D	0.965283	D	0.89917	1.0	D	0.79784	0.993	T	0.26395	-1.0104	9	.	.	.	.	12.7079	0.57073	1.0:0.0:0.0:0.0	.	306	P98073	ENTK_HUMAN	T	306	ENSP00000284885:I306T	.	I	-	2	0	TMPRSS15	18648015	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	5.657000	0.67996	1.878000	0.54408	0.454000	0.30748	ATT		0.323	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		18	48	0	0	0	1	0	18	48					G	19726144	A	G	19726144	3	3	409	1	0	0	0	0	1	0	0	0	16243	101	4	3	2210	3	TMPRSS15	21	19726144	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08		19726144	28403751	28	35734											
RTDR1	27156	broad.mit.edu	37	chr22	23406094	23406094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacctgacattaaggagCgcacgggcggccttgctgcg	13	14	1	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr22:23406094C>T	ENST00000216036.4	-	5	835	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		213										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CATTAAGGAGCGCACGGGCGG	0.632																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(637-639)gcG>gcA		rhabdoid tumor deletion region gene 1							63	57	59					22																	23406094		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23406094C>T																												ENST00000216036.4:c.639G>A	22.37:g.23406094C>T							p.A213A	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	835	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		213						Silent	SNP	ENST00000216036.4	37	c.639G>A	CCDS13803.1																																																																																				0.632	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			8	15	0	0	0	1	0	8	15					T	23406094	C	T	23406094	2	4	409	1	0	0	0	0	0	0	0	1	13719	755	27	1		1	RTDR1	22	23406094	Silent	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		23406094	27898472	29	35735											
OCRL	4952	broad.mit.edu	37	chrX	128703312	128703312	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttaatcagcttaattAtcggagtcacatggaactga	8	6	2	1	rs137853847		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:128703312A>G	ENST00000371113.4	+	15	1703	c.1538A>G	c.(1537-1539)tAt>tGt	p.Y513C	OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	513	5-phosphatase.		Y -> C (in OCRL; dbSNP:rs137853847). {ECO:0000269|PubMed:9682219}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGCTTAATTATCGGAGTCAC	0.423																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48	GRCh37	CM983298	OCRL	M	rs137853847	c.(1537-1539)tAt>tGt		oculocerebrorenal syndrome of Lowe							175	161	166					X																	128703312		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128703312A>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1538A>G	X.37:g.128703312A>G	ENSP00000360154:p.Tyr513Cys					OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			15	1703	+			513		Y -> C (in OCRL; dbSNP:rs137853847).			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1538A>G	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342512	0.81911	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95949	-3.86;-3.86	5.82	5.82	0.92795	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.118608	0.64402	D	0.000013	D	0.98785	0.9591	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99187	1.0869	10	0.87932	D	0	.	13.8113	0.63266	1.0:0.0:0.0:0.0	.	513;513	Q01968-2;Q01968	.;OCRL_HUMAN	C	513	ENSP00000360154:Y513C;ENSP00000349635:Y513C	ENSP00000349635:Y513C	Y	+	2	0	OCRL	128530993	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.949000	0.93012	1.942000	0.56320	0.407000	0.27541	TAT		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		46	27	0	0	0	1	0	46	27					G	128703312	A	G	128703312	3	3	409	1	0	0	0	0	1	0	0	0	10823	449	16	3	1596	3	OCRL	23	128703312	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08		128703312	26567248	30	35736											
MAGEA8	4107	broad.mit.edu	37	chrX	149013062	149013062	+	Frame_Shift_Del	DEL	A	A	-													tcatcatgcttcttgggcagAagagtcagcgctacaaggct							TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:149013062delA	ENST00000542674.1	+	3	537	c.16delA	c.(16-18)aagfs	p.K6fs	MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000535454.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000493910.1_3'UTR	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	6										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCAGAAGAGTCAGCG	0.602																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(16-18)agfs		melanoma antigen family A, 8							35	28	30					X																	149013062		2203	4298	6501	SO:0001589	frameshift_variant	4107							g.chrX:149013062delA		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.16delA	X.37:g.149013062delA	ENSP00000443776:p.Lys6fs					MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000542674.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs	p.K6fs	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	565	+	Acute lymphoblastic leukemia(192;6.56e-05)		6					Q9BUN9	Frame_Shift_Del	DEL	ENST00000542674.1	37	c.16delA	CCDS14692.1																																																																																				0.602	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		2	4						2	4	---	---	---	---	-	149013062	A	-	149013062	7	5	409	1	0	1	0	1	0	0	0	0	9171	247	9	0	18	0	MAGEA8	23	149013062	Frame_Shift_Del	DEL	A	TCGA-RY-A843-01A-11D-A36O-08	20309750	149013062	6257498	31	35737											
TDRD5	163589	broad.mit.edu	37	chr1	179562904	179562904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtttgaagtgcttaatgCggcttcagatgtcatttctg	10	6	3	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:179562904C>T	ENST00000367614.1	+	3	901	c.542C>T	c.(541-543)gCg>gTg	p.A181V	TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V|TDRD5_ENST00000444136.1_Missense_Mutation_p.A181V|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	181	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGCTTAATGCGGCTTCAGAT	0.408																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(541-543)gCg>gTg		tudor domain containing 5							113	112	112					1																	179562904		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179562904C>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.542C>T	1.37:g.179562904C>T	ENSP00000356586:p.Ala181Val					TDRD5_ENST00000367614.1_Missense_Mutation_p.A181V|TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V	p.A181V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			3	792	+			181			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.542C>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784321	0.70222	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.52983	0.64;0.64;0.64	5.79	5.79	0.91817	.	0.067793	0.64402	D	0.000016	T	0.56262	0.1973	L	0.27053	0.805	0.33092	D	0.538106	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.985	T	0.65298	-0.6202	10	0.56958	D	0.05	-0.7513	15.0478	0.71841	0.0:0.8573:0.1427:0.0	.	181;181	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	V	181	ENSP00000356586:A181V;ENSP00000294848:A181V;ENSP00000406052:A181V	ENSP00000294848:A181V	A	+	2	0	TDRD5	177829527	0.996000	0.38824	0.990000	0.47175	0.728000	0.41692	4.123000	0.57917	2.727000	0.93392	0.655000	0.94253	GCG		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		3	70	0	0	0	1	0	3	70					T	179562904	C	T	179562904	3	4	410	1	0	0	0	0	1	0	0	0	15730	768	27	1	548	1	TDRD5	1	179562904	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		179562904	69687717	1	35738											
SUSD4	55061	broad.mit.edu	37	chr1	223536659	223536659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgaagcacagcgccagctGaaaccacaggatcacggcca	11	15	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:223536659G>A	ENST00000343846.3	-	1	742	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q37*			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	37						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCGCCAGCTGAAACCACAGG	0.617																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(109-111)Cag>Tag		sushi domain containing 4							35	34	35					1																	223536659		2203	4299	6502	SO:0001587	stop_gained	55061					integral to membrane		g.chr1:223536659G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.109C>T	1.37:g.223536659G>A	ENSP00000344219:p.Gln37*					SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000342943.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR	p.Q37*			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	1	742	-			37					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Nonsense_Mutation	SNP	ENST00000343846.3	37	c.109C>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	38	6.783931	0.97837	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029;ENST00000342943;ENST00000366877	.	.	.	4.95	4.95	0.65309	.	0.000000	0.40385	N	0.001105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.5165	15.1087	0.72338	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000271787:Q37X	Q	-	1	0	SUSD4	221603282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.075000	0.64407	2.272000	0.75746	0.555000	0.69702	CAG		0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	2	0	0	0	1	0	3	2					A	223536659	G	A	223536659	4	1	410	1	0	0	0	0	0	1	0	0	15407	1299	45	2	1548	2	SUSD4	1	223536659	Nonsense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	43973755	223536659	25713962	2	35739											
URB2	9816	broad.mit.edu	37	chr1	229770818	229770818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccttgctgagccagcTttgctggtcggcctgcaggc	16	12	0	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:229770818T>A	ENST00000258243.2	+	4	594	c.458T>A	c.(457-459)cTt>cAt	p.L153H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	153						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGAGCCAGCTTTGCTGGTCG	0.587																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(457-459)cTt>cAt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							63	54	57					1																	229770818		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229770818T>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.458T>A	1.37:g.229770818T>A	ENSP00000258243:p.Leu153His						p.L153H	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	594	+			153					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.458T>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740794	0.69304	.	.	ENSG00000135763	ENST00000258243	T	0.09817	2.94	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01024	-1.1477	9	.	.	.	-19.545	16.2541	0.82503	0.0:0.0:0.0:1.0	.	153	Q14146	URB2_HUMAN	H	153	ENSP00000258243:L153H	.	L	+	2	0	URB2	227837441	1.000000	0.71417	0.991000	0.47740	0.667000	0.39255	5.585000	0.67497	2.307000	0.77673	0.528000	0.53228	CTT		0.587	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		9	47	0	0	0	1	0	9	47					A	229770818	T	A	229770818	3	1	410	1	0	0	0	0	1	0	0	0	17022	1609	56	5	468	5	URB2	1	229770818	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	6234159	229770818	19479803	3	35740											
CRIM1	51232	broad.mit.edu	37	chr2	36737265	36737265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccataatctgtgacaagtaTtgtccacttggattgctgta	8	9	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:36737265T>C	ENST00000280527.2	+	9	2008	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	547	Antistasin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00582}.				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)				GTGACAAGTATTGTCCACTTG	0.403																																						ENST00000280527.2																			0				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						c.(1639-1641)taT>taC		cysteine rich transmembrane BMP regulator 1 (chordin-like)							140	131	134					2																	36737265		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36737265T>C	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.1641T>C	2.37:g.36737265T>C							p.Y547Y	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			9	2008	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	547			Antistasin-like 3.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.1641T>C	CCDS1783.1																																																																																				0.403	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		6	60	0	0	0	1	0	6	60					C	36737265	T	C	36737265	2	2	410	1	0	0	0	0	0	0	0	1	3873	1500	52	3		3	CRIM1	2	36737265	Silent	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		36737265	206462108	4	35741											
SRBD1	55133	broad.mit.edu	37	chr2	45807076	45807076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtttctcaagcagtgccCtggctgctccttctaagccc	9	15	2	0	rs549462688		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:45807076C>T	ENST00000263736.4	-	7	1072	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	337					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)			AAGCAGTGCCCTGGCTGCTCC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		15278	0.0		0.0	False		,,,				2504	0.001					ENST00000263736.4																			0				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						c.(1009-1011)aGg>aAg		S1 RNA binding domain 1							167	160	162					2																	45807076		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45807076C>T	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.1010G>A	2.37:g.45807076C>T	ENSP00000263736:p.Arg337Lys						p.R337K	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		7	1072	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	337					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1010G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	2.664	-0.279032	0.05642	.	.	ENSG00000068784	ENST00000263736	T	0.39592	1.07	4.79	-0.313	0.12754	Tex-like protein, N-terminal (1);Tex-like domain (1);	1.071400	0.07173	N	0.852663	T	0.17534	0.0421	N	0.10733	0.035	0.20403	N	0.999903	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	10	0.07325	T	0.83	.	4.045	0.09768	0.37:0.3552:0.0:0.2748	.	337	Q8N5C6	SRBD1_HUMAN	K	337	ENSP00000263736:R337K	ENSP00000263736:R337K	R	-	2	0	SRBD1	45660580	0.077000	0.21312	0.984000	0.44739	0.966000	0.64601	0.300000	0.19156	0.024000	0.15214	0.557000	0.71058	AGG		0.438	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		14	129	0	0	0	1	0	14	129					T	45807076	C	T	45807076	3	4	410	1	0	0	0	0	1	0	0	0	15132	681	24	2	2037	2	SRBD1	2	45807076	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	9069811	45807076	197392297	5	35742											
IMMT	10989	broad.mit.edu	37	chr2	86398455	86398455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagaaataatttgagcCgcttctgtaggtgctataaa	10	7	1	2	rs189678459		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:86398455C>T	ENST00000410111.3	-	5	822	c.435G>A	c.(433-435)gcG>gcA	p.A145A	IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000409051.2_Intron|IMMT_ENST00000490238.1_5'Flank|IMMT_ENST00000449247.2_Intron|IMMT_ENST00000254636.5_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	145				EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAATTTGAGCCGCTTCTGTAG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		16347	0.0		0.001	False		,,,				2504	0.0					ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(433-435)gcG>gcA		inner membrane protein, mitochondrial		C	,,	1,3899		0,1,1949	50	50	50		435,,435	3.9	1	2		50	0,8292		0,0,4146	no	coding-synonymous,intron,coding-synonymous	IMMT	NM_001100169.1,NM_001100170.1,NM_006839.2	,,	0,1,6095	TT,TC,CC		0.0,0.0256,0.0082	,,	145/758,,145/759	86398455	1,12191	1950	4146	6096	SO:0001819	synonymous_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86398455C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.435G>A	2.37:g.86398455C>T						IMMT_ENST00000409051.2_Intron|IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000254636.5_Intron|IMMT_ENST00000449247.2_Intron	p.A145A	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			5	822	-			145	EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126).				B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	c.435G>A	CCDS46355.1																																																																																				0.433	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		4	11	0	0	0	1	0	4	11					T	86398455	C	T	86398455	2	4	410	1	0	0	0	0	0	0	0	1	7718	639	23	1		1	IMMT	2	86398455	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	40591379	86398455	156800918	6	35743											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	36	0	0	0	1	0	20	36					T	209113112	C	T	209113112	3	4	410	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	122714657	209113112	34086261	7	35744											
SCN10A	6336	broad.mit.edu	37	chr3	38812790	38812790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagggtaatgacgctaaaAtccagccagttccaaggatc	10	11	0	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr3:38812790A>G	ENST00000449082.2	-	4	578	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGACGCTAAAATCCAGCCAGT	0.448																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(577-579)gaT>gaC		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167	159	162					3																	38812790		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38812790A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.579T>C	3.37:g.38812790A>G							p.D193D	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	4	578	-			193					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.579T>C	CCDS33736.1																																																																																				0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		25	40	0	0	0	1	0	25	40					G	38812790	A	G	38812790	2	3	410	1	0	0	0	0	0	0	0	1	13912	98	4	3		3	SCN10A	3	38812790	Silent	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		38812790	159209640	8	35745											
TEC	7006	broad.mit.edu	37	chr4	48173436	48173436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtggactaggtgcaaAaatgtaaagtgtgttagcat	12	4	0	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:48173436A>G	ENST00000381501.3	-	4	431	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGGTGCAAAAATGTAAAGT	0.363																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(274-276)Ttt>Ctt		tec protein tyrosine kinase							86	81	83					4																	48173436		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48173436A>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.274T>C	4.37:g.48173436A>G	ENSP00000370912:p.Phe92Leu						p.F92L	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			4	431	-			92			PH.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.274T>C	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617204	0.87359	.	.	ENSG00000135605	ENST00000381501	T	0.74842	-0.88	5.9	5.9	0.94986	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.70595	2.14	0.54753	D	0.999985	D	0.76494	0.999	D	0.79108	0.992	D	0.85652	0.1283	10	0.49607	T	0.09	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	92	P42680	TEC_HUMAN	L	92	ENSP00000370912:F92L	ENSP00000370912:F92L	F	-	1	0	TEC	47868193	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.799000	0.85936	2.251000	0.74343	0.528000	0.53228	TTT		0.363	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			23	35	0	0	0	1	0	23	35					G	48173436	A	G	48173436	3	3	410	1	0	0	0	0	1	0	0	0	15739	14	1	3	1681	3	TEC	4	48173436	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		48173436	142980840	9	35746											
UNC5C	8633	broad.mit.edu	37	chr4	96124101	96124101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtgaagttttcctccccGaccaccaccacatcctgggg	10	15	0	1	rs372308726		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:96124101G>A	ENST00000453304.1	-	12	2265	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCCTCCCCGACCACCACCA	0.592																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1915-1917)gtC>gtT		unc-5 homolog C (C. elegans)		G		0,4406		0,0,2203	66	63	64		1917	-10.9	0.1	4		64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	UNC5C	NM_003728.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		639/932	96124101	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96124101G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1917C>T	4.37:g.96124101G>A							p.V639V	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	12	2265	-		Hepatocellular(203;0.114)	639					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1917C>T	CCDS3643.1																																																																																				0.592	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		4	29	0	0	0	1	0	4	29					A	96124101	G	A	96124101	2	1	410	1	0	0	0	0	0	0	0	1	16990	1045	37	1		1	UNC5C	4	96124101	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	47950665	96124101	95030175	10	35747											
FAM193B	54540	broad.mit.edu	37	chr5	176951816	176951816	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcatttctgcccatgGtggggctggctcgcctggag	14	13	2	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr5:176951816G>C	ENST00000514747.1	-	6	1714	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A|FAM193B_ENST00000329540.5_Missense_Mutation_p.P182A|FAM193B_ENST00000508298.1_5'Flank	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	636						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TCTGCCCATGGTGGGGCTGGC	0.622																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(544-546)Cca>Gca		family with sequence similarity 193, member B							12	13	13					5																	176951816		1913	4115	6028	SO:0001583	missense	54540							g.chr5:176951816G>C		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1666C>G	5.37:g.176951816G>C	ENSP00000422131:p.Pro556Ala					FAM193B_ENST00000514747.1_Missense_Mutation_p.P556A|FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A	p.P182A			Q6IPW0	Q6IPW0_HUMAN			9	3373	-			232					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.544C>G	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.353463|3.353463	0.61293|0.61293	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.41065|.	1.01;1.02;1.01|.	5.42|5.42	4.54|4.54	0.55810|0.55810	.|.	0.179213|.	0.49916|.	D|.	0.000130|.	T|T	0.52741|0.52741	0.1753|0.1753	L|L	0.40543|0.40543	1.245|1.245	0.34038|0.34038	D|D	0.654658|0.654658	B;P;B|.	0.39022|.	0.234;0.655;0.003|.	B;B;B|.	0.38264|.	0.061;0.269;0.003|.	T|T	0.60388|0.60388	-0.7273|-0.7273	10|5	0.13108|.	T|.	0.6|.	-9.4526|-9.4526	13.505|13.505	0.61479|0.61479	0.0767:0.0:0.9233:0.0|0.0767:0.0:0.9233:0.0	.|.	556;182;523|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	A|S	556;523;182|241	ENSP00000422131:P556A;ENSP00000410098:P523A;ENSP00000332014:P182A|.	ENSP00000332014:P182A|.	P|T	-|-	1|2	0|0	FAM193B|FAM193B	176884422|176884422	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.497000|2.497000	0.45354|0.45354	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	CCA|ACC		0.622	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		7	7	0	0	0	1	0	7	7					C	176951816	G	C	176951816	3	2	410	1	0	0	0	0	1	0	0	0	5525	1261	44	4	814	4	FAM193B	5	176951816	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		176951816	3963444	11	35748											
SIRT5	23408	broad.mit.edu	37	chr6	13584419	13584419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagcctccagcgtccacacGaaaccagatttgcctgaaaa	8	13	0	2	rs35634029		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:13584419G>A	ENST00000606117.1	+	3	373	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCGTCCACACGAAACCAGATT	0.478																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(76-78)cGa>cAa		sirtuin 5	Suramin(DB04786)						138	128	132					6																	13584419		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13584419G>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.77G>A	6.37:g.13584419G>A	ENSP00000476228:p.Arg26Gln					SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q	p.R26Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		3	373	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	26						Missense_Mutation	SNP	ENST00000606117.1	37	c.77G>A	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331507	0.24167	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.22336	2.55;1.96;2.55	5.11	-8.41	0.00961	.	2.172010	0.02782	N	0.121014	T	0.01454	0.0047	N	0.01352	-0.895	0.09310	N	0.999998	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.26258	-1.0108	10	0.10636	T	0.68	1.7565	10.1523	0.42801	0.364:0.1092:0.5267:0.0	.	26;26;26	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	Q	26	ENSP00000352830:R26Q;ENSP00000368564:R26Q;ENSP00000368552:R26Q	ENSP00000352830:R26Q	R	+	2	0	SIRT5	13692398	0.004000	0.15560	0.000000	0.03702	0.011000	0.07611	-0.124000	0.10595	-1.386000	0.02098	-0.440000	0.05779	CGA		0.478	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			15	29	0	0	0	1	0	15	29					A	13584419	G	A	13584419	3	1	410	1	0	0	0	0	1	0	0	0	14341	1058	37	1	79	1	SIRT5	6	13584419	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		13584419	157530648	12	35749											
HIST1H4K	8362	broad.mit.edu	37	chr6	27799001	27799001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaagggacgctcaaccaCcgaaaccgtagagggtgcgg	14	10	1	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:27799001C>T	ENST00000357549.2	-	1	304	c.305G>A	c.(304-306)gGt>gAt	p.G102D		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	102					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)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCTCAACCACCGAAACCGTA	0.572																																						ENST00000357549.2																			0				breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						c.(304-306)gGt>gAt		histone cluster 1, H4k							36	39	38					6																	27799001		2203	4300	6503	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799001C>T	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.305G>A	6.37:g.27799001C>T	ENSP00000350159:p.Gly102Asp						p.G102D	NM_003541.2	NP_003532.1	P62805	H4_HUMAN			1	304	-			102					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.305G>A	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.909486	0.52439	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.14	4.14	0.48551	.	0.000000	0.53938	U	0.000057	T	0.69806	0.3152	.	.	.	0.43259	D	0.995193	.	.	.	.	.	.	T	0.75883	-0.3160	6	0.87932	D	0	.	15.7871	0.78315	0.0:1.0:0.0:0.0	.	.	.	.	D	102	.	ENSP00000350159:G102D	G	-	2	0	HIST1H4K	27906980	1.000000	0.71417	0.781000	0.31783	0.022000	0.10575	6.974000	0.76122	2.007000	0.58848	0.650000	0.86243	GGT		0.572	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		13	26	0	0	0	1	0	13	26					T	27799001	C	T	27799001	3	4	410	1	0	0	0	0	1	0	0	0	7175	507	18	2	10	2	HIST1H4K	6	27799001	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	14214582	27799001	143316066	13	35750											
OR12D2	26529	broad.mit.edu	37	chr6	29365261	29365261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacctatatccatcctgCgttagagagcttcatggacc	7	12	2	1	rs113539956	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:29365261C>T	ENST00000383555.2	+	1	846	c.785C>T	c.(784-786)gCg>gTg	p.A262V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATCCATCCTGCGTTAGAGAGC	0.448																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(784-786)gCg>gTg		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							202	203	203					6																	29365261		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365261C>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.785C>T	6.37:g.29365261C>T	ENSP00000373047:p.Ala262Val					OR5V1_ENST00000377154.1_Intron	p.A262V	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	846	+			262					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.785C>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522421	0.13066	.	.	ENSG00000168787	ENST00000383555	T	0.00152	8.66	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.784428	0.11443	N	0.563541	T	0.00039	0.0001	L	0.28192	0.835	0.09310	N	1	P	0.37083	0.581	B	0.39617	0.305	T	0.00443	-1.1736	10	0.51188	T	0.08	.	11.8714	0.52523	0.1752:0.8248:0.0:0.0	.	262	P58182	O12D2_HUMAN	V	262	ENSP00000373047:A262V	ENSP00000373047:A262V	A	+	2	0	OR12D2	29473240	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	0.021000	0.13489	2.019000	0.59389	0.205000	0.17691	GCG		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			10	114	0	0	0	1	0	10	114					T	29365261	C	T	29365261	3	4	410	1	0	0	0	0	1	0	0	0	10931	768	27	1	787	1	OR12D2	6	29365261	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	1566260	29365261	141749806	14	35751											
C2	717	broad.mit.edu	37	chr6	31901429	31901429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttcactgggcgcagtgcGgacaggcttccgctttggtc	13	12	1	0	rs377291549		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:31901429G>A	ENST00000299367.5	+	4	761	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	CFB_ENST00000556679.1_Missense_Mutation_p.R100Q|C2_ENST00000469372.1_5'UTR|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|C2_ENST00000418949.2_Missense_Mutation_p.R162Q|CFB_ENST00000456570.1_Missense_Mutation_p.R100Q	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	162	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)		GGCGCAGTGCGGACAGGCTTC	0.632																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(298-300)cGg>cAg		complement factor B							64	58	60					6																	31901429		1509	2709	4218	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901429G>A		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.485G>A	6.37:g.31901429G>A	ENSP00000299367:p.Arg162Gln					C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000469372.1_5'UTR|C2_ENST00000299367.5_Missense_Mutation_p.R162Q|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.R100Q|C2_ENST00000418949.2_Missense_Mutation_p.R162Q	p.R100Q			P00751	CFAB_HUMAN			3	354	+			176			Sushi 1.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.299G>A	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400930|3.400930	0.62177|0.62177	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	.|T;T;T;T;T;T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.49|5.49	4.62|4.62	0.57501|0.57501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.34291	.|N	.|0.004082	T|T	0.72787|0.72787	0.3504|0.3504	M|M	0.86420|0.86420	2.815|2.815	0.28708|0.28708	N|N	0.903713|0.903713	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.85130	.|0.997;0.962;0.997;0.972;0.962;0.963;0.985	T|T	0.71163|0.71163	-0.4673|-0.4673	5|10	.|0.72032	.|D	.|0.01	-25.6078|-25.6078	10.6981|10.6981	0.45911|0.45911	0.0898:0.0:0.9102:0.0|0.0898:0.0:0.9102:0.0	.|.	.|100;133;39;30;30;162;162	.|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.|.;.;.;.;.;CO2_HUMAN;.	R|Q	27|39;39;162;30;100;162;21;100;100	.|ENSP00000392322:R39Q;ENSP00000406121:R39Q;ENSP00000299367:R162Q;ENSP00000395683:R30Q;ENSP00000391354:R100Q;ENSP00000406190:R162Q;ENSP00000419048:R21Q;ENSP00000451848:R100Q;ENSP00000410815:R100Q	.|ENSP00000299367:R162Q	G|R	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32009408|32009408	0.948000|0.948000	0.32251|0.32251	0.087000|0.087000	0.20705|0.20705	0.263000|0.263000	0.26337|0.26337	3.644000|3.644000	0.54381|0.54381	1.303000|1.303000	0.44873|0.44873	0.558000|0.558000	0.71614|0.71614	GGA|CGG		0.632	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			14	12	0	0	0	1	0	14	12					A	31901429	G	A	31901429	3	1	410	1	0	0	0	0	1	0	0	0	2074	1116	39	1	576	1	C2	6	31901429	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	2536168	31901429	139213638	15	35752											
TBCC	6903	broad.mit.edu	37	chr6	42713776	42713776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggactccatgtctccggtCctgacagcagcagcggagca	13	13	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:42713776C>A	ENST00000372876.1	-	1	58	c.36G>T	c.(34-36)agG>agT	p.R12S	TBCC_ENST00000244625.2_Missense_Mutation_p.R12S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	12					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGTCTCCGGTCCTGACAGCAG	0.597																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(34-36)agG>agT		tubulin folding cofactor C							52	52	52					6																	42713776		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713776C>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.36G>T	6.37:g.42713776C>A	ENSP00000361967:p.Arg12Ser					TBCC_ENST00000372876.1_Missense_Mutation_p.R12S	p.R12S			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	599	-	Colorectal(47;0.196)		12					Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.36G>T	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.223537	0.00283	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.14022	2.54;2.54	5.04	-3.69	0.04450	.	2.280660	0.02597	N	0.100580	T	0.02230	0.0069	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.29610	-1.0006	10	0.08179	T	0.78	0.0321	3.3822	0.07259	0.0937:0.2393:0.3912:0.2757	.	12	Q15814	TBCC_HUMAN	S	12	ENSP00000361967:R12S;ENSP00000244625:R12S	ENSP00000244625:R12S	R	-	3	2	TBCC	42821754	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.277000	0.02812	-0.587000	0.05890	0.563000	0.77884	AGG		0.597	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		14	29	1	0	2.61681e-11	1	2.67249e-11	14	29					A	42713776	C	A	42713776	3	1	410	1	0	0	0	0	1	0	0	0	15628	854	30	4	1008	4	TBCC	6	42713776	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	10812347	42713776	128401291	16	35753											
ZBTB2	57621	broad.mit.edu	37	chr6	151686867	151686867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgcatttgtagggtttgTttgtttgcaccagcatgttg	12	5	0	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151686867T>C	ENST00000325144.4	-	3	1474	c.1334A>G	c.(1333-1335)aAc>aGc	p.N445S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	445					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)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTAGGGTTTGTTTGTTTGCAC	0.443																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1333-1335)aAc>aGc		zinc finger and BTB domain containing 2							205	174	184					6																	151686867		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686867T>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1334A>G	6.37:g.151686867T>C	ENSP00000323183:p.Asn445Ser						p.N445S	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1474	-			445					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1334A>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370580	0.24771	.	.	ENSG00000181472	ENST00000325144	T	0.04862	3.54	5.41	4.25	0.50352	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.273096	0.44097	N	0.000490	T	0.01454	0.0047	N	0.08118	0	0.38376	D	0.944997	B	0.06786	0.001	B	0.04013	0.001	T	0.41858	-0.9485	10	0.87932	D	0	-49.5316	10.86	0.46821	0.0:0.0736:0.0:0.9264	.	445	Q8N680	ZBTB2_HUMAN	S	445	ENSP00000323183:N445S	ENSP00000323183:N445S	N	-	2	0	ZBTB2	151728560	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	3.602000	0.54066	0.909000	0.36697	0.460000	0.39030	AAC		0.443	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		3	57	0	0	0	1	0	3	57					C	151686867	T	C	151686867	3	2	410	1	0	0	0	0	1	0	0	0	17525	1725	60	3	214	3	ZBTB2	6	151686867	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	108973091	151686867	19428200	17	35754											
ZBTB2	57621	broad.mit.edu	37	chr6	151687324	151687324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattgctacagagagtcaGggggacgcgactttctccct	12	11	2	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151687324G>A	ENST00000325144.4	-	3	1017	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	293					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)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CAGAGAGTCAGGGGGACGCGA	0.547																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(877-879)Ctg>Ttg		zinc finger and BTB domain containing 2							141	128	133					6																	151687324		2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687324G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.877C>T	6.37:g.151687324G>A							p.L293L	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1017	-			293					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.877C>T	CCDS5231.1																																																																																				0.547	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		14	76	0	0	0	1	0	14	76					A	151687324	G	A	151687324	2	1	410	1	0	0	0	0	0	0	0	1	17525	991	35	2		2	ZBTB2	6	151687324	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	457	151687324	19427743	18	35755											
HIP1	3092	broad.mit.edu	37	chr7	75172231	75172231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaacgccggcagtggcctgGttcactccccgagaggcctg	13	15	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:75172231G>T	ENST00000336926.6	-	28	2855	c.2829C>A	c.(2827-2829)aaC>aaA	p.N943K	HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	943	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						CAGTGGCCTGGTTCACTCCCC	0.542			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				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						c.(2827-2829)aaC>aaA		huntingtin interacting protein 1							88	82	84					7																	75172231		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75172231G>T	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.2829C>A	7.37:g.75172231G>T	ENSP00000336747:p.Asn943Lys					HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	p.N943K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			28	2855	-			943			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2829C>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442873	0.63067	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.29142	1.58;1.58	5.19	5.19	0.71726	I/LWEQ (4);	0.048172	0.85682	D	0.000000	T	0.22282	0.0537	L	0.33339	1.005	0.47276	D	0.999371	B;B	0.23316	0.071;0.083	B;B	0.28553	0.091;0.056	T	0.05484	-1.0882	10	0.10636	T	0.68	-29.5132	10.8653	0.46851	0.0865:0.0:0.9135:0.0	.	892;943	E7ES17;O00291	.;HIP1_HUMAN	K	943;892	ENSP00000336747:N943K;ENSP00000410300:N892K	ENSP00000336747:N943K	N	-	3	2	HIP1	75010167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.225000	0.32551	2.415000	0.81967	0.563000	0.77884	AAC		0.542	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		5	50	1	0	0.014758	1	0.014758	5	50					T	75172231	G	T	75172231	3	4	410	1	0	0	0	0	1	0	0	0	7114	1252	44	4	300	4	HIP1	7	75172231	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		75172231	83966432	19	35756											
DAPK1	1612	broad.mit.edu	37	chr9	90252944	90252944	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttctcaaacaaattcTtaatggtgtttactacctgc	5	8	2	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr9:90252944T>A	ENST00000408954.3	+	4	706	c.371T>A	c.(370-372)cTt>cAt	p.L124H	DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H|DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000469640.2_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACAAATTCTTAATGGTGTT	0.433									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(370-372)cTt>cAt		death-associated protein kinase 1							110	104	106					9																	90252944		1948	4162	6110	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90252944T>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.371T>A	9.37:g.90252944T>A	ENSP00000386135:p.Leu124His					DAPK1_ENST00000408954.3_Missense_Mutation_p.L124H|DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H	p.L124H			P53355	DAPK1_HUMAN			4	746	+			124			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.371T>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805216	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.26	5.26	0.73747	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	0.43579	D	0.000545	T	0.80939	0.4720	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.991;0.999	D	0.88527	0.3100	10	0.87932	D	0	.	15.348	0.74355	0.0:0.0:0.0:1.0	.	124;124;124	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	H	124	ENSP00000350785:L124H;ENSP00000417076:L124H;ENSP00000418885:L124H;ENSP00000386135:L124H;ENSP00000419026:L124H	ENSP00000350785:L124H	L	+	2	0	DAPK1	89442764	1.000000	0.71417	0.852000	0.33557	0.936000	0.57629	7.868000	0.87116	2.218000	0.71995	0.533000	0.62120	CTT		0.433	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		5	57	0	0	0	1	0	5	57					A	90252944	T	A	90252944	3	1	410	1	0	0	0	0	1	0	0	0	4235	1609	56	5	381	5	DAPK1	9	90252944	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		90252944	50960487	20	35757											
CTNNA3	29119	broad.mit.edu	37	chr10	68535239	68535239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcttacacatgttgTctaaagcaatattcagggta	7	7	4	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:68535239T>C	ENST00000433211.2	-	8	1265	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G	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						ACACATGTTGTCTAAAGCAAT	0.378																																						ENST00000433211.1																			0				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						c.(1090-1092)gAc>gGc		catenin (cadherin-associated protein), alpha 3							190	181	184					10																	68535239		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68535239T>C	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.1091A>G	10.37:g.68535239T>C	ENSP00000389714:p.Asp364Gly					CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G|CTNNA3_ENST00000494580.1_5'UTR	p.D364G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			8	1265	-			364						Missense_Mutation	SNP	ENST00000433211.2	37	c.1091A>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714550	0.48622	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.50548	0.74;0.74	6.16	5.01	0.66863	.	0.173761	0.39759	N	0.001261	T	0.50446	0.1616	M	0.64404	1.975	0.80722	D	1	B;B	0.24186	0.002;0.099	B;B	0.36885	0.027;0.235	T	0.47761	-0.9092	10	0.44086	T	0.13	-4.756	10.7451	0.46177	0.1469:0.0:0.0:0.8531	.	364;364	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	G	364	ENSP00000389714:D364G;ENSP00000362849:D364G	ENSP00000362849:D364G	D	-	2	0	CTNNA3	68205245	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.112000	0.71547	1.107000	0.41642	0.528000	0.53228	GAC		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		52	78	0	0	0	1	0	52	78					C	68535239	T	C	68535239	3	2	410	1	0	0	0	0	1	0	0	0	4014	1667	58	3	1640	3	CTNNA3	10	68535239	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		68535239	66999508	21	35758											
PDCD11	22984	broad.mit.edu	37	chr10	105202012	105202012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagttggagaagcagaagGcagagaaggaactgtcccgc	17	7	0	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:105202012G>A	ENST00000369797.3	+	32	4844	c.4750G>A	c.(4750-4752)Gca>Aca	p.A1584T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1584					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCAGAAGGCAGAGAAGGA	0.547																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4750-4752)Gca>Aca		programmed cell death 11							114	116	116					10																	105202012		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105202012G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4750G>A	10.37:g.105202012G>A	ENSP00000358812:p.Ala1584Thr						p.A1584T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	32	4844	+		Colorectal(252;0.0747)|Breast(234;0.128)	1584					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4750G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101108	0.56183	.	.	ENSG00000148843	ENST00000369797	T	0.46819	0.86	5.27	4.34	0.51931	.	0.148899	0.64402	D	0.000011	T	0.31231	0.0790	N	0.25485	0.75	0.51012	D	0.999908	B	0.28128	0.201	B	0.23419	0.046	T	0.08617	-1.0713	10	0.24483	T	0.36	-9.1634	9.7562	0.40504	0.0751:0.0:0.7828:0.1421	.	1584	Q14690	RRP5_HUMAN	T	1584	ENSP00000358812:A1584T	ENSP00000358812:A1584T	A	+	1	0	PDCD11	105192002	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.421000	0.59848	1.310000	0.45006	0.561000	0.74099	GCA		0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	58	0	0	0	1	0	3	58					A	105202012	G	A	105202012	3	1	410	1	0	0	0	0	1	0	0	0	11617	1203	42	2	4872	2	PDCD11	10	105202012	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	36666773	105202012	30332735	22	35759											
ACCS	84680	broad.mit.edu	37	chr11	44098861	44098861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaccccttactatggcGctatcacacagcacgtgtgt	7	16	1	0	rs373138553		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:44098861G>A	ENST00000263776.8	+	7	1023	c.589G>A	c.(589-591)Gct>Act	p.A197T	ACCS_ENST00000533208.1_Intron|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	197					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.A197T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTACTATGGCGCTATCACACA	0.582																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			1	Substitution - Missense(1)	p.A197T(1)	large_intestine(1)	breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(589-591)Gct>Act		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	190	173	179		589,589	2.7	1	11		179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACCS	NM_001127219.1,NM_032592.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	197/502,197/502	44098861	1,13005	2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44098861G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.589G>A	11.37:g.44098861G>A	ENSP00000263776:p.Ala197Thr					ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron	p.A197T	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			7	1023	+			197					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.589G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001107	0.54254	0.0	1.16E-4	ENSG00000110455	ENST00000263776	D	0.90788	-2.73	4.58	2.66	0.31614	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199097	0.42964	D	0.000636	D	0.85383	0.5684	L	0.39245	1.2	0.80722	D	1	P	0.39696	0.683	B	0.40375	0.327	T	0.82028	-0.0660	10	0.72032	D	0.01	-7.3086	7.6123	0.28137	0.0859:0.0:0.7519:0.1622	.	197	Q96QU6	1A1L1_HUMAN	T	197	ENSP00000263776:A197T	ENSP00000263776:A197T	A	+	1	0	ACCS	44055437	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	3.692000	0.54727	0.458000	0.26988	0.557000	0.71058	GCT		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		17	114	0	0	0	1	0	17	114					A	44098861	G	A	44098861	3	1	410	1	0	0	0	0	1	0	0	0	133	1087	38	1	611	1	ACCS	11	44098861	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		44098861	90907655	23	35760											
PIH1D2	1737	broad.mit.edu	37	chr11	111934916	111934916	+	3'UTR	DEL	T	T	-													aacttcaaagataattcatcTttcgctaatgcttgtggttc							TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:111934916delT	ENST00000280346.6	+	0	4260				PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs|DLAT_ENST00000393051.1_3'UTR|PIH1D2_ENST00000431456.1_Frame_Shift_Del_p.K281fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase						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)		ATAATTCATCTTTCGCTAATG	0.313																																						ENST00000431456.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(841-843)aafs		PIH1 domain containing 2							94	87	89					11																	111934916		1805	4056	5861	SO:0001624	3_prime_UTR_variant	120379							g.chr11:111934916delT	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.*1657T>-	11.37:g.111934916delT						DLAT_ENST00000393051.1_3'UTR|DLAT_ENST00000280346.6_3'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs	p.K281fs	NM_001082619.1	NP_001076088.1	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	6	1065	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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)	0					Q16783|Q53EP3	Frame_Shift_Del	DEL	ENST00000280346.6	37	c.843delA	CCDS8354.1																																																																																				0.313	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		2	4						2	4	---	---	---	---	-	111934916	T	-	111934916	6	5	410	0	1	1	0	1	0	0	0	0	11907	1606	56	0		0	PIH1D2	11	111934916	3'UTR	DEL	T	TCGA-RY-A845-01A-11D-A36O-08	67836055	111934916	23071600	24	35761											
IAPP	3375	broad.mit.edu	37	chr12	21531254	21531254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagttcattccagcaacaActttggtgccattctctcat	5	11	3	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr12:21531254A>G	ENST00000240652.3	+	3	300	c.164A>G	c.(163-165)aAc>aGc	p.N55S	SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_3'UTR|IAPP_ENST00000539393.1_Missense_Mutation_p.N55S	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	55					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						TCCAGCAACAACTTTGGTGCC	0.453																																						ENST00000240652.3																			0				lung(3)	3						c.(163-165)aAc>aGc		islet amyloid polypeptide	Perindopril(DB00790)						142	132	135					12																	21531254		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21531254A>G		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"Endogenous ligands"	5329	protein-coding gene	gene with protein product	"amylin"	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.164A>G	12.37:g.21531254A>G	ENSP00000240652:p.Asn55Ser					IAPP_ENST00000539393.1_Missense_Mutation_p.N55S|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000307378.6_Intron	p.N55S	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN			3	300	+			55					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.164A>G	CCDS8688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.556|8.556	0.876746|0.876746	0.17395|0.17395	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000537593|ENST00000535428	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.98|4.98	3.83|3.83	0.44106|0.44106	Calcitonin peptide-like (1);|.	0.216848|.	0.47852|.	N|.	0.000201|.	T|T	0.53932|0.53932	0.1827|0.1827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.27166|.	0.17|.	B|.	0.34536|.	0.185|.	T|T	0.48422|0.48422	-0.9037|-0.9037	9|4	0.07990|.	T|.	0.79|.	-1.9203|-1.9203	5.1227|5.1227	0.14869|0.14869	0.6808:0.1536:0.1656:0.0|0.6808:0.1536:0.1656:0.0	.|.	55|.	P10997|.	IAPP_HUMAN|.	S|A	55|51	ENSP00000437357:N55S;ENSP00000240652:N55S;ENSP00000445980:N55S|.	ENSP00000240652:N55S|.	N|T	+|+	2|1	0|0	IAPP|IAPP	21422521|21422521	0.235000|0.235000	0.23794|0.23794	0.683000|0.683000	0.30040|0.30040	0.555000|0.555000	0.35460|0.35460	0.891000|0.891000	0.28309|0.28309	0.750000|0.750000	0.32877|0.32877	0.528000|0.528000	0.53228|0.53228	AAC|ACT		0.453	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		28	54	0	0	0	1	0	28	54					G	21531254	A	G	21531254	3	3	410	1	0	0	0	0	1	0	0	0	7472	43	2	3	170	3	IAPP	12	21531254	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		21531254	112320641	25	35762											
CTSG	1511	broad.mit.edu	37	chr14	25043625	25043625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccggccacagtgcacagCgtcccgggtctcagtccctc	11	18	1	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:25043625C>T	ENST00000216336.2	-	4	456	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.T140T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.T140T(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(418-420)acG>acA		cathepsin G							109	102	104					14																	25043625		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043625C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.420G>A	14.37:g.25043625C>T							p.T140T	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	456	-			140			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.420G>A	CCDS9631.1																																																																																				0.612	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		3	54	0	0	0	1	0	3	54					T	25043625	C	T	25043625	2	4	410	1	0	0	0	0	0	0	0	1	4035	755	27	1		1	CTSG	14	25043625	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		25043625	82305915	26	35763											
SCNN1G	6340	broad.mit.edu	37	chr16	23197720	23197720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacacccatggctgtcgccGcatcgtggtgtcccgcggcc	12	17	0	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:23197720G>A	ENST00000300061.2	+	2	271	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	43					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)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTGTCGCCGCATCGTGGTG	0.627																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(127-129)cGc>cAc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						61	58	59					16																	23197720		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23197720G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.128G>A	16.37:g.23197720G>A	ENSP00000300061:p.Arg43His						p.R43H	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	2	271	+			43					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.128G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118965	0.56505	.	.	ENSG00000166828	ENST00000300061	T	0.61980	0.06	5.43	4.48	0.54585	.	0.355344	0.26019	N	0.026833	T	0.79034	0.4378	M	0.81682	2.555	0.43076	D	0.99472	D	0.89917	1.0	D	0.91635	0.999	T	0.82157	-0.0596	10	0.87932	D	0	-17.4726	12.9537	0.58415	0.079:0.0:0.921:0.0	.	43	P51170	SCNNG_HUMAN	H	43	ENSP00000300061:R43H	ENSP00000300061:R43H	R	+	2	0	SCNN1G	23105221	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	5.404000	0.66344	1.288000	0.44600	-0.258000	0.10820	CGC		0.627	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		3	36	0	0	0	1	0	3	36					A	23197720	G	A	23197720	3	1	410	1	0	0	0	0	1	0	0	0	13930	1087	38	1	130	1	SCNN1G	16	23197720	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		23197720	67157033	27	35764											
HSD17B2	3294	broad.mit.edu	37	chr16	82104725	82104725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggtgaatgtcagcagCatgggaggtgagtcagcatt	16	6	2	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:82104725C>T	ENST00000199936.4	+	3	850	c.657C>T	c.(655-657)agC>agT	p.S219S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	219					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGTCAGCAGCATGGGAGGTG	0.488																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(655-657)agC>agT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						118	116	117					16																	82104725		2201	4300	6501	SO:0001819	synonymous_variant	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82104725C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.657C>T	16.37:g.82104725C>T						RP11-510J16.5_ENST00000567021.1_RNA	p.S219S	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			3	850	+			219					B2R7T4	Silent	SNP	ENST00000199936.4	37	c.657C>T	CCDS10936.1																																																																																				0.488	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		5	48	0	0	0	1	0	5	48					T	82104725	C	T	82104725	2	4	410	1	0	0	0	0	0	0	0	1	7384	709	25	2		2	HSD17B2	16	82104725	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	58907005	82104725	8250028	28	35765											
NEURL4	84461	broad.mit.edu	37	chr17	7226076	7226076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagtgcagtgggaaggaCttctcggtggcagtgttgct	19	6	1	0	rs35849202		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7226076C>T	ENST00000399464.2	-	16	2718	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	NEURL4_ENST00000315614.7_Silent_p.K899K|NEURL4_ENST00000570460.1_Silent_p.K877K	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	901						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGGAAGGACTTCTCGGTGG	0.622																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2701-2703)aaG>aaA		neuralized E3 ubiquitin protein ligase 4							156	169	164					17																	7226076		2066	4208	6274	SO:0001819	synonymous_variant	84461							g.chr17:7226076C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2703G>A	17.37:g.7226076C>T						NEURL4_ENST00000570460.1_Silent_p.K877K|NEURL4_ENST00000315614.7_Silent_p.K899K	p.K901K	NM_032442.2	NP_115818.2					16	2718	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.2703G>A	CCDS42251.1																																																																																				0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		9	72	0	0	0	1	0	9	72					T	7226076	C	T	7226076	2	4	410	1	0	0	0	0	0	0	0	1	10347	564	20	2		2	NEURL4	17	7226076	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		7226076	73969134	29	35766											
TP53	7157	broad.mit.edu	37	chr17	7578496	7578496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggaatcaacccacAgctgcacagggcaggtcttg	15	10	2	0	rs587782197		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7578496A>G	ENST00000269305.4	-	5	623	c.434T>C	c.(433-435)cTg>cCg	p.L145P	TP53_ENST00000413465.2_Missense_Mutation_p.L145P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000420246.2_Missense_Mutation_p.L145P	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	145	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)	ATCAACCCACAGCTGCACAGG	0.602		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		57	Substitution - Missense(41)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(1)	breast(11)|ovary(9)|large_intestine(7)|central_nervous_system(5)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|stomach(2)|urinary_tract(2)|liver(2)|prostate(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(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						c.(433-435)cTg>cCg	Other conserved DNA damage response genes	tumor protein p53							57	57	57					17																	7578496		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578496A>G	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.434T>C	17.37:g.7578496A>G	ENSP00000269305:p.Leu145Pro	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)				TP53_ENST00000269305.4_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000445888.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000413465.2_Missense_Mutation_p.L145P	p.L145P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	566	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	145		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.434T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591310	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99818	-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.153372	0.45361	D	0.000370	D	0.99736	0.9896	M	0.71581	2.175	0.80722	D	1	D;B;D;D;B;B;D	0.89917	1.0;0.052;0.998;1.0;0.075;0.213;1.0	D;B;D;D;B;B;D	0.91635	0.999;0.15;0.979;0.999;0.296;0.296;0.999	D	0.97018	0.9741	10	0.87932	D	0	-1.0943	13.8301	0.63375	1.0:0.0:0.0:0.0	.	106;145;145;52;145;145;145	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	145;145;145;145;145;145;134;52;13;52;13;145	ENSP00000410739:L145P;ENSP00000352610:L145P;ENSP00000269305:L145P;ENSP00000398846:L145P;ENSP00000391127:L145P;ENSP00000391478:L145P;ENSP00000425104:L13P;ENSP00000423862:L52P;ENSP00000424104:L145P	ENSP00000269305:L145P	L	-	2	0	TP53	7519221	1.000000	0.71417	0.420000	0.26596	0.013000	0.08279	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	CTG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	4	0	0	0	1	0	33	4					G	7578496	A	G	7578496	3	3	410	1	0	0	0	0	1	0	0	0	16378	188	7	3	864	3	TP53	17	7578496	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08	352420	7578496	73616714	30	35767											
FLCN	201163	broad.mit.edu	37	chr17	17119748	17119748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgagccccaggaagtTgcaccgataggcctcctcgt	13	14	0	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:17119748T>C	ENST00000285071.4	-	11	1700	c.1246A>G	c.(1246-1248)Aac>Gac	p.N416D	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	416					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						CCCAGGAAGTTGCACCGATAG	0.662									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				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						c.(1246-1248)Aac>Gac		folliculin							98	76	83					17																	17119748		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	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	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17119748T>C	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.1246A>G	17.37:g.17119748T>C	ENSP00000285071:p.Asn416Asp					RP11-45M22.4_ENST00000427497.3_3'UTR	p.N416D	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			11	1700	-			416					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1246A>G	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	t	36	5.785653	0.96937	.	.	ENSG00000154803	ENST00000285071	D	0.96073	-3.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.71036	2.16	0.80722	D	1	D	0.65815	0.995	P	0.55615	0.78	D	0.96814	0.9599	10	0.62326	D	0.03	-59.0568	16.3313	0.83015	0.0:0.0:0.0:1.0	.	416	Q8NFG4	FLCN_HUMAN	D	416	ENSP00000285071:N416D	ENSP00000285071:N416D	N	-	1	0	FLCN	17060473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.347000	0.79356	2.266000	0.75297	0.529000	0.55759	AAC		0.662	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		3	11	0	0	0	1	0	3	11					C	17119748	T	C	17119748	3	2	410	1	0	0	0	0	1	0	0	0	5921	1812	63	3	509	3	FLCN	17	17119748	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	9541252	17119748	64075462	31	35768											
CDH19	28513	broad.mit.edu	37	chr18	64197119	64197119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaaacataagtctcaTagtattgagagaactcagga	7	7	3	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr18:64197119T>C	ENST00000540086.1	-	9	1667	c.1421A>G	c.(1420-1422)tAt>tGt	p.Y474C	CDH19_ENST00000262150.2_Missense_Mutation_p.Y474C	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	583	Cadherin 5. {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)				ATAAGTCTCATAGTATTGAGA	0.323																																						ENST00000262150.2																			0				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						c.(1420-1422)tAt>tGt		cadherin 19, type 2							121	119	120					18																	64197119		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197119T>C	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.1421A>G	18.37:g.64197119T>C	ENSP00000439593:p.Tyr474Cys					CDH19_ENST00000540086.1_Missense_Mutation_p.Y474C	p.Y474C	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			9	1713	-		Esophageal squamous(42;0.0132)	474			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1421A>G	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510228	0.27036	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.63913	-0.07;0.13	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	H	0.94183	3.505	0.48696	D	0.999698	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88861	0.3326	10	0.87932	D	0	.	14.6324	0.68666	0.0:0.0:0.0:1.0	.	474;474	F5H1K0;Q9H159	.;CAD19_HUMAN	C	474	ENSP00000262150:Y474C;ENSP00000439593:Y474C	ENSP00000262150:Y474C	Y	-	2	0	CDH19	62348099	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	2.975000	0.49281	2.105000	0.64084	0.528000	0.53228	TAT		0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		3	72	0	0	0	1	0	3	72					C	64197119	T	C	64197119	3	2	410	1	0	0	0	0	1	0	0	0	3104	1406	49	3	913	3	CDH19	18	64197119	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		64197119	13880129	32	35769											
MUC16	94025	broad.mit.edu	37	chr19	9049830	9049830	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggtctctgcaggatggaTaacccatgaagctgttgtat	12	7	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:9049830T>A	ENST00000397910.4	-	5	32004	c.31801A>T	c.(31801-31803)Atc>Ttc	p.I10601F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10603	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						GCAGGATGGATAACCCATGAA	0.483																																						ENST00000397910.4																			0				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						c.(31801-31803)Atc>Ttc		mucin 16, cell surface associated							129	120	123					19																	9049830		1912	4122	6034	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049830T>A	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.31801A>T	19.37:g.9049830T>A	ENSP00000381008:p.Ile10601Phe						p.I10601F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32004	-			10603			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31801A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.788	0.514323	0.12944	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.96	1.88	0.25563	.	.	.	.	.	T	0.03011	0.0089	N	0.22421	0.69	.	.	.	P	0.52316	0.952	P	0.46850	0.529	T	0.40496	-0.9560	8	0.87932	D	0	.	5.9498	0.19239	0.0:0.0:0.2711:0.7289	.	10601	B5ME49	.	F	10601	ENSP00000381008:I10601F	ENSP00000381008:I10601F	I	-	1	0	MUC16	8910830	0.003000	0.15002	0.001000	0.08648	0.026000	0.11368	0.612000	0.24283	0.480000	0.27534	0.370000	0.22315	ATC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	48	0	0	0	1	0	28	48					A	9049830	T	A	9049830	3	1	410	1	0	0	0	0	1	0	0	0	9973	1406	49	5	12042	5	MUC16	19	9049830	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		9049830	50079153	33	35770											
ZNF433	163059	broad.mit.edu	37	chr19	12126626	12126626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccaagtggttttgaaaGctggtaagataagataatac	9	5	0	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:12126626G>A	ENST00000344980.6	-	4	1226	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Silent_p.S317S|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	352					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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTTGAAAGCTGGTAAGAT	0.383																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(949-951)agC>agT		zinc finger protein 433							42	46	45					19																	12126626		2147	4275	6422	SO:0001819	synonymous_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126626G>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1056C>T	19.37:g.12126626G>A						CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.S352S	p.S317S			Q8N7K0	ZN433_HUMAN			5	1242	-			352					Q86VX3	Silent	SNP	ENST00000344980.6	37	c.951C>T	CCDS45983.1																																																																																				0.383	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		3	51	0	0	0	1	0	3	51					A	12126626	G	A	12126626	2	1	410	1	0	0	0	0	0	0	0	1	17904	962	34	2		2	ZNF433	19	12126626	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	3076796	12126626	47002357	34	35771											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130494	52130494	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accactcctgtcccgaggttCgatctccctgcagaaaagag	9	14	1	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:52130494C>T	ENST00000534261.2	-	8	1689	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S|SIGLEC5_ENST00000222107.4_Silent_p.S430S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1288-1290)tcG>tcA		sialic acid binding Ig-like lectin 5							94	81	85					19																	52130494		2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130494C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1290G>A	19.37:g.52130494C>T						SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S	p.S430S			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	7	1428	-		all_neural(266;0.0726)	430						Silent	SNP	ENST00000534261.2	37	c.1290G>A	CCDS33088.1																																																																																				0.557	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		3	24	0	0	0	1	0	3	24					T	52130494	C	T	52130494	2	4	410	1	0	0	0	0	0	0	0	1	14311	871	31	1		1	SIGLEC5	19	52130494	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	40003868	52130494	6998489	35	35772											
PIGA	5277	broad.mit.edu	37	chrX	15342872	15342872	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggagctggcaatgtccctGacttcagttggaaaatagcc	11	10	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:15342872G>C	ENST00000333590.4	-	5	1187	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	368					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATGTCCCTGACTTCAGTTG	0.398																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1102-1104)tCa>tGa		phosphatidylinositol glycan anchor biosynthesis, class A							156	143	147					X																	15342872		2203	4298	6501	SO:0001587	stop_gained	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342872G>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"Glycosyltransferase group 1 domain containing", "Phosphatidylinositol glycan anchor biosynthesis"	8957	protein-coding gene	gene with protein product	"paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase"	311770	"phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1103C>G	X.37:g.15342872G>C	ENSP00000369820:p.Ser368*					PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*	p.S368*	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1187	-	Hepatocellular(33;0.183)		368					B4E0V2|Q16025|Q16250	Nonsense_Mutation	SNP	ENST00000333590.4	37	c.1103C>G	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599179	0.46318	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	.	.	.	5.99	5.99	0.97316	.	0.354000	0.30277	N	0.010000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.0022	18.2571	0.90023	0.0:0.0:1.0:0.0	.	.	.	.	X	134;368;53	.	ENSP00000369820:S368X	S	-	2	0	PIGA	15252793	1.000000	0.71417	0.030000	0.17652	0.080000	0.17528	6.002000	0.70693	2.536000	0.85505	0.600000	0.82982	TCA		0.398	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		15	131	0	0	0	1	0	15	131					C	15342872	G	C	15342872	4	2	410	1	0	0	0	0	0	1	0	0	11884	1294	45	4	359	4	PIGA	23	15342872	Nonsense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		15342872	139927688	36	35773											
FAM47C	442444	broad.mit.edu	37	chrX	37029164	37029164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagaaggcaaacgagtgttCctcagggctgaagtacagca	12	8	1	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:37029164C>T	ENST00000358047.3	+	1	2733	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	894										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						AACGAGTGTTCCTCAGGGCTG	0.438																																						ENST00000358047.3																			0				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						c.(2680-2682)tCc>tTc		family with sequence similarity 47, member C							115	108	110					X																	37029164		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029164C>T	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.2681C>T	X.37:g.37029164C>T	ENSP00000367913:p.Ser894Phe						p.S894F	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2733	+			894					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2681C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	7.575	0.667473	0.14710	.	.	ENSG00000198173	ENST00000358047	T	0.62498	0.02	0.829	-1.66	0.08265	.	.	.	.	.	T	0.58935	0.2157	L	0.56769	1.78	0.09310	N	1	D	0.58620	0.983	P	0.50162	0.633	T	0.52593	-0.8555	8	0.72032	D	0.01	.	.	.	.	.	894	Q5HY64	FA47C_HUMAN	F	894	ENSP00000367913:S894F	ENSP00000367913:S894F	S	+	2	0	FAM47C	36939085	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.608000	0.24223	-1.010000	0.03396	-0.770000	0.03390	TCC		0.438	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	115	0	0	0	1	0	4	115					T	37029164	C	T	37029164	3	4	410	1	0	0	0	0	1	0	0	0	5571	855	30	2	2683	2	FAM47C	23	37029164	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	21686292	37029164	118241396	37	35774											
GPR173	54328	broad.mit.edu	37	chrX	53105924	53105924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgagcctggcgggtaacGccatcttgtccctgctggtg	15	12	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:53105924G>A	ENST00000332582.4	+	2	612	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	41					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						GGCGGGTAACGCCATCTTGTC	0.612																																						ENST00000332582.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(121-123)Gcc>Acc		G protein-coupled receptor 173							95	63	74					X																	53105924		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53105924G>A	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.121G>A	X.37:g.53105924G>A	ENSP00000331600:p.Ala41Thr						p.A41T	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	612	+			41					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.121G>A	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048472	0.19827	.	.	ENSG00000184194	ENST00000332582;ENST00000375466	T	0.37584	1.19	4.02	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.174805	0.38058	N	0.001822	T	0.24624	0.0597	L	0.36672	1.1	0.31444	N	0.671579	P	0.35456	0.502	B	0.37239	0.244	T	0.18398	-1.0338	10	0.48119	T	0.1	-7.5428	4.0414	0.09753	0.2365:0.194:0.5695:0.0	.	41	Q9NS66	GP173_HUMAN	T	41	ENSP00000331600:A41T	ENSP00000331600:A41T	A	+	1	0	GPR173	53122649	0.856000	0.29760	0.926000	0.36857	0.690000	0.40134	0.943000	0.29030	0.731000	0.32448	-0.297000	0.09499	GCC		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		3	46	0	0	0	1	0	3	46					A	53105924	G	A	53105924	3	1	410	1	0	0	0	0	1	0	0	0	6671	1087	38	1	123	1	GPR173	23	53105924	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	16076760	53105924	102164636	38	35775											
GDPD2	54857	broad.mit.edu	37	chrX	69645908	69645908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcttcctctaggtcctgGccctgctcctgcggctttgt	9	16	2	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:69645908G>A	ENST00000374382.3	+	5	561	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.A104T	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	104					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTAGGTCCTGGCCCTGCTCCT	0.607																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(310-312)Gcc>Acc		glycerophosphodiester phosphodiesterase domain containing 2							99	74	82					X																	69645908		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69645908G>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.310G>A	X.37:g.69645908G>A	ENSP00000363503:p.Ala104Thr					GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000374382.3_Missense_Mutation_p.A104T|GDPD2_ENST00000472623.1_3'UTR	p.A104T	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			5	671	+	Renal(35;0.156)		104					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.310G>A	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490763	0.64074	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.73	4.73	0.59995	.	0.065973	0.64402	D	0.000011	T	0.40522	0.1120	M	0.74647	2.275	0.31751	N	0.634578	P;P;B	0.45768	0.759;0.866;0.319	B;P;B	0.45913	0.379;0.497;0.18	T	0.55939	-0.8061	9	.	.	.	-2.5152	13.3603	0.60652	0.0:0.0:1.0:0.0	.	104;25;104	B4DVC9;B4DRH4;Q9HCC8	.;.;GDPD2_HUMAN	T	104;25;25;104	ENSP00000414019:A104T;ENSP00000445982:A25T;ENSP00000444601:A25T;ENSP00000363503:A104T	.	A	+	1	0	GDPD2	69562633	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.212000	0.72188	2.155000	0.67459	0.594000	0.82650	GCC		0.607	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		20	20	0	0	0	1	0	20	20					A	69645908	G	A	69645908	3	1	410	1	0	0	0	0	1	0	0	0	6324	1203	42	2	324	2	GDPD2	23	69645908	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	16539984	69645908	85624652	39	35776											
PASD1	139135	broad.mit.edu	37	chrX	150842518	150842518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccataacttcagactcaAccataagcaccctggagacc	5	15	2	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:150842518A>G	ENST00000370357.4	+	15	2280	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	679						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)					TTCAGACTCAACCATAAGCAC	0.498																																						ENST00000370357.4																			0				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						c.(2035-2037)Acc>Gcc		PAS domain containing 1							128	114	119					X																	150842518		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150842518A>G	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.2035A>G	X.37:g.150842518A>G	ENSP00000359382:p.Thr679Ala						p.T679A	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			15	2280	+	Acute lymphoblastic leukemia(192;6.56e-05)		679					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.2035A>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177142	0.38413	.	.	ENSG00000166049	ENST00000370357	T	0.34667	1.35	3.15	-5.51	0.02568	.	.	.	.	.	T	0.20659	0.0497	N	0.24115	0.695	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.24261	-1.0165	9	0.72032	D	0.01	-5.6514	7.5168	0.27606	0.2646:0.1645:0.5709:0.0	.	679	Q8IV76	PASD1_HUMAN	A	679	ENSP00000359382:T679A	ENSP00000359382:T679A	T	+	1	0	PASD1	150593174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.485000	0.06520	-1.665000	0.01477	-0.323000	0.08544	ACC		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		35	47	0	0	0	1	0	35	47					G	150842518	A	G	150842518	3	3	410	1	0	0	0	0	1	0	0	0	11471	43	2	3	2089	3	PASD1	23	150842518	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08	81196610	150842518	4428042	40	35777											
FUBP1	8880	broad.mit.edu	37	chr1	78429977	78429978	+	Frame_Shift_Ins	INS	-	-	T													aacaccagcatcattttgtaINStttttttgatcatctctcca							TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:78429977_78429978insT	ENST00000370768.2	-	11	982_983	c.901_902insA	c.(901-903)atafs	p.I301fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.I301fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I322fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	301	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)	p.I301fs*22(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATCATTTTGTATTTTTTTGATC	0.347			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		1	Deletion - Frameshift(1)	p.I301fs*22(1)	large_intestine(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(901-903)acafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429977_78429978insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.902dupA	1.37:g.78429984_78429984dupT	ENSP00000359804:p.Ile301fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.T301fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T322fs	p.T301fs			Q96AE4	FUBP1_HUMAN			11	988_989	-			301			KH 3.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.901_902insA	CCDS683.1																																																																																				0.347	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		7	27						7	27	---	---	---	---	T	78429978	-	T	78429977	7	5	411	1	0	1	1	0	0	0	0	0	6092	449	16	0	1072	0	FUBP1	1	78429977	Frame_Shift_Ins	INS	-	TCGA-RY-A847-01A-11D-A36O-08		78429977	170820644	1	35778											
OR2T12	127064	broad.mit.edu	37	chr1	248458774	248458774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagggcattgctaaacaggGaggtcaaaacggtggccaga	15	7	1	2			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:248458774G>A	ENST00000317996.1	-	1	106	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			GCTAAACAGGGAGGTCAAAAC	0.502																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(106-108)tCc>tTc		olfactory receptor, family 2, subfamily T, member 12							109	102	104					1																	248458774		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458774G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.107C>T	1.37:g.248458774G>A	ENSP00000324583:p.Ser36Phe						p.S36F	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	106	-	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)		36						Missense_Mutation	SNP	ENST00000317996.1	37	c.107C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.917197	0.33815	.	.	ENSG00000177201	ENST00000317996	T	0.00311	8.15	1.55	-1.18	0.09617	.	0.247187	0.21173	U	0.078950	T	0.00552	0.0018	M	0.86502	2.82	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.40850	-0.9541	10	0.87932	D	0	.	7.015	0.24883	0.2742:0.0:0.7258:0.0	.	36	Q8NG77	O2T12_HUMAN	F	36	ENSP00000324583:S36F	ENSP00000324583:S36F	S	-	2	0	OR2T12	246525397	0.008000	0.16893	0.004000	0.12327	0.227000	0.25037	1.596000	0.36718	-0.223000	0.09943	0.175000	0.17021	TCC		0.502	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		41	68	0	0	0	1	0	41	68					A	248458774	G	A	248458774	3	1	411	1	0	0	0	0	1	0	0	0	11019	1174	41	2	858	2	OR2T12	1	248458774	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	170028797	248458774	791847	2	35779											
GPAT2	150763	broad.mit.edu	37	chr2	96690336	96690336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgagtgctgcagcaggCtccgcagctgcccagagaag	14	12	1	2			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:96690336C>T	ENST00000434632.1	-	16	1967	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N	GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	503					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGCAGCAGGCTCCGCAGCTG	0.657																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1507-1509)aGc>aAc		glycerol-3-phosphate acyltransferase 2, mitochondrial							46	54	51					2																	96690336		2106	4236	6342	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690336C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1508G>A	2.37:g.96690336C>T	ENSP00000389395:p.Ser503Asn					GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N|GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N	p.S503N			Q6NUI2	GPAT2_HUMAN			16	1967	-			503					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1508G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	8.543	0.873741	0.17322	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.76709	-1.03;-1.03;-0.02;-1.04	4.63	3.67	0.42095	.	0.854636	0.10604	N	0.655315	T	0.60495	0.2273	N	0.08118	0	0.21020	N	0.999808	P;B;B;B;D	0.53745	0.902;0.435;0.225;0.302;0.962	B;B;B;B;P	0.48840	0.415;0.086;0.047;0.054;0.592	T	0.49762	-0.8905	10	0.08837	T	0.75	-9.1457	6.8571	0.24046	0.0:0.8718:0.0:0.1282	.	432;503;509;503;432	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	N	503;503;432;503	ENSP00000352547:S503N;ENSP00000389395:S503N;ENSP00000393770:S432N;ENSP00000366341:S503N	ENSP00000352547:S503N	S	-	2	0	GPAT2	96054063	0.989000	0.36119	1.000000	0.80357	0.046000	0.14306	1.470000	0.35354	2.418000	0.82041	0.637000	0.83480	AGC		0.657	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		15	35	0	0	0	1	0	15	35					T	96690336	C	T	96690336	3	4	411	1	0	0	0	0	1	0	0	0	6589	797	28	2	911	2	GPAT2	2	96690336	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		96690336	146509037	3	35780											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135926349	135926349	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagatacttccttcttcTgattcttctagcattactcg	4	12	5	2			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:135926349T>G	ENST00000264158.8	+	24	2987	c.2944T>G	c.(2944-2946)Tga>Gga	p.*982G	RAB3GAP1_ENST00000487003.1_Intron|RAB3GAP1_ENST00000539493.1_Intron|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	0					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCCTTCTTCTGATTCTTCTA	0.527																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2944-2946)Tga>Gga		RAB3 GTPase activating protein subunit 1 (catalytic)							91	92	91					2																	135926349		2203	4300	6503	SO:0001578	stop_lost	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135926349T>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2944T>G	2.37:g.135926349T>G	ENSP00000264158:p.*982Glyext*3					RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989G|RAB3GAP1_ENST00000487003.1_Intron|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Intron	p.*982G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	24	2987	+			0					A6H8Z3|C9J837|Q659F5|Q8TBB4	Nonstop_Mutation	SNP	ENST00000264158.8	37	c.2944T>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657682	0.29425	.	.	ENSG00000115839	ENST00000264158;ENST00000442034	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	.	.	.	G	982;989	.	.	X	+	1	0	RAB3GAP1	135642819	1.000000	0.71417	0.930000	0.37139	0.384000	0.30261	7.692000	0.84203	2.218000	0.71995	0.533000	0.62120	TGA		0.527	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		4	42	0	0	0	1	0	4	42					G	135926349	T	G	135926349	4	3	411	1	0	0	0	0	0	0	0	0	12935	1593	55	5	3063	5	RAB3GAP1	2	135926349	Nonstop_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	39236013	135926349	107273024	4	35781											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	51	0	0	0	1	0	36	51					T	209113112	C	T	209113112	3	4	411	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08	73186763	209113112	34086261	5	35782											
PTPRN	5798	broad.mit.edu	37	chr2	220168541	220168541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactgggtgaggtcatcgTgccaggacaatcctgtcagg	13	10	2	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:220168541T>C	ENST00000295718.2	-	4	533	c.293A>G	c.(292-294)cAc>cGc	p.H98R	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.H98R|PTPRN_ENST00000423636.2_Missense_Mutation_p.H8R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	98					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)		GAGGTCATCGTGCCAGGACAA	0.587																																						ENST00000295718.2																			0				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						c.(292-294)cAc>cGc		protein tyrosine phosphatase, receptor type, N							69	62	65					2																	220168541		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220168541T>C		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.293A>G	2.37:g.220168541T>C	ENSP00000295718:p.His98Arg					PTPRN_ENST00000409251.3_Missense_Mutation_p.H98R|PTPRN_ENST00000423636.2_Missense_Mutation_p.H8R|AC114803.3_ENST00000417355.1_RNA	p.H98R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		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)	4	533	-		Renal(207;0.0474)	98					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.293A>G	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290434	0.40494	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000536579;ENST00000412847;ENST00000446182;ENST00000440552;ENST00000442029;ENST00000451506	T;T;T	0.03301	3.98;4.0;4.02	5.05	5.05	0.67936	.	0.293297	0.22005	N	0.065945	T	0.02767	0.0083	N	0.12182	0.205	0.27155	N	0.96131	B;B	0.30068	0.267;0.146	B;B	0.24974	0.039;0.057	T	0.42327	-0.9458	10	0.41790	T	0.15	.	13.0838	0.59129	0.0:0.0:0.0:1.0	.	98;98	Q6NSL1;Q16849	.;PTPRN_HUMAN	R	98;98;98;8;98;8;8;65;8;8	ENSP00000386638:H98R;ENSP00000295718:H98R;ENSP00000444244:H8R	ENSP00000295718:H98R	H	-	2	0	PTPRN	219876785	1.000000	0.71417	0.999000	0.59377	0.609000	0.37215	4.011000	0.57124	1.916000	0.55485	0.248000	0.18094	CAC		0.587	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			4	19	0	0	0	1	0	4	19					C	220168541	T	C	220168541	3	2	411	1	0	0	0	0	1	0	0	0	12807	1696	59	3	2726	3	PTPRN	2	220168541	Missense_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	11055429	220168541	23030832	6	35783											
ZBTB20	26137	broad.mit.edu	37	chr3	114058171	114058171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcttgttgcagatactaCactggtatgccctcactcct	8	13	1	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:114058171C>T	ENST00000474710.1	-	5	2085	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	ZBTB20_ENST00000481632.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.C563Y|ZBTB20_ENST00000462705.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C563Y	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	636						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGATACTACACTGGTATGC	0.527																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1687-1689)tGt>tAt		zinc finger and BTB domain containing 20							196	168	177					3																	114058171		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058171C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1907G>A	3.37:g.114058171C>T	ENSP00000419153:p.Cys636Tyr					ZBTB20_ENST00000474710.1_Missense_Mutation_p.C636Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.C563Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C563Y|ZBTB20_ENST00000481632.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C563Y	p.C563Y	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2509	-			636					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1688G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507625	0.64410	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	D;D;D;D;D;D;D	0.99974	-10.2;-10.2;-10.2;-10.2;-10.2;-10.2;-10.2	6.17	6.17	0.99709	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	0.99981	0.9994	M	0.93328	3.405	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97680	1.0172	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	636	Q9HC78	ZBT20_HUMAN	Y	563;563;563;563;636;563;563	ENSP00000420324:C563Y;ENSP00000377375:C563Y;ENSP00000418092:C563Y;ENSP00000419902:C563Y;ENSP00000419153:C636Y;ENSP00000349803:C563Y;ENSP00000417307:C563Y	ENSP00000349803:C563Y	C	-	2	0	ZBTB20	115540861	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGT		0.527	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		9	95	0	0	0	1	0	9	95					T	114058171	C	T	114058171	3	4	411	1	0	0	0	0	1	0	0	0	17526	478	17	2	322	2	ZBTB20	3	114058171	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		114058171	83964259	7	35784											
ZNF148	7707	broad.mit.edu	37	chr3	124952039	124952039	+	Frame_Shift_Del	DEL	C	C	-													tatggatgccgtggtactttCatcaatgacacttgccacag							TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:124952039delC	ENST00000360647.4	-	9	2016	c.1531delG	c.(1531-1533)gaafs	p.E511fs	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.E511fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	511					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|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)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GTGGTACTTTCATCAATGACA	0.438																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1531-1533)aafs		zinc finger protein 148							130	124	126					3																	124952039		2203	4300	6503	SO:0001589	frameshift_variant	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952039delC	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1531delG	3.37:g.124952039delC	ENSP00000353863:p.Glu511fs					SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000497929.1_5'UTR	p.E511fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	2016	-			511					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Frame_Shift_Del	DEL	ENST00000360647.4	37	c.1531delG	CCDS3031.1																																																																																				0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		10	101						10	101	---	---	---	---	-	124952039	C	-	124952039	7	5	411	1	0	1	0	1	0	0	0	0	17731	835	29	0	857	0	ZNF148	3	124952039	Frame_Shift_Del	DEL	C	TCGA-RY-A847-01A-11D-A36O-08	10893868	124952039	73070391	8	35785											
C3orf21	152002	broad.mit.edu	37	chr3	194877208	194877208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcatctcccgggctatgCcgatgatggcgcctggcagg	15	13	1	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:194877208C>T	ENST00000310380.6	-	3	863	c.755G>A	c.(754-756)gGc>gAc	p.G252D	XXYLT1_ENST00000355729.4_Missense_Mutation_p.G49D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G106D|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G49D	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	252						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCGGGCTATGCCGATGATGGC	0.572																																						ENST00000310380.6																			0											c.(754-756)gGc>gAc		xyloside xylosyltransferase 1							60	66	64					3																	194877208		1945	4136	6081	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194877208C>T	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.755G>A	3.37:g.194877208C>T	ENSP00000309640:p.Gly252Asp					XXYLT1_ENST00000437101.1_Missense_Mutation_p.G49D|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G106D|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G49D	p.G252D	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			3	863	-			252					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.755G>A	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109838	0.77096	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000458652	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.83692	2.655	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	T	0.61446	-0.7061	10	0.87932	D	0	-0.5563	16.8528	0.85998	0.0:1.0:0.0:0.0	.	106;252;49	C9JV19;Q8NBI6;Q8NBI6-2	.;XXLT1_HUMAN;.	D	252;49;49;106;106	ENSP00000309640:G252D;ENSP00000409865:G49D;ENSP00000347967:G49D;ENSP00000399422:G106D	ENSP00000309640:G252D	G	-	2	0	C3orf21	196358497	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.414000	0.80117	2.569000	0.86673	0.563000	0.77884	GGC		0.572	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		4	47	0	0	0	1	0	4	47					T	194877208	C	T	194877208	3	4	411	1	0	0	0	0	1	0	0	0	2214	739	26	2	434	2	C3orf21	3	194877208	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08	69925169	194877208	3145222	9	35786											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	20						7	20	---	---	---	---	A	190878556	-	A	190878555	7	5	411	1	0	1	1	0	0	0	0	0	6046	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-RY-A847-01A-11D-A36O-08		190878555	275721	10	35787											
GPR98	84059	broad.mit.edu	37	chr5	90079059	90079059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcccggaggtgttgattaCattttgcatggcagtacagt	12	7	0	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr5:90079059C>T	ENST00000405460.2	+	66	13446	c.13350C>T	c.(13348-13350)taC>taT	p.Y4450Y	GPR98_ENST00000425867.2_Silent_p.Y111Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4450	Calx-beta 30. {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)		GTGTTGATTACATTTTGCATG	0.413																																						ENST00000405460.2																			0				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						c.(13348-13350)taC>taT		G protein-coupled receptor 98							133	128	130					5																	90079059		1965	4164	6129	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90079059C>T	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.13350C>T	5.37:g.90079059C>T						GPR98_ENST00000425867.2_Silent_p.Y111Y	p.Y4450Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13446	+		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)	4450			Calx-beta 30.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13350C>T	CCDS47246.1																																																																																				0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	77	0	0	0	1	0	13	77					T	90079059	C	T	90079059	2	4	411	1	0	0	0	0	0	0	0	1	6721	489	17	2		2	GPR98	5	90079059	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		90079059	90836201	11	35788											
FKBPL	63943	broad.mit.edu	37	chr6	32097117	32097117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccctccatggccctacGcccatagttagctctgtcca	6	18	1	0			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr6:32097117G>A	ENST00000375156.3	-	2	711	c.441C>T	c.(439-441)ggC>ggT	p.G147G	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	147					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)										ATGGCCCTACGCCCATAGTTA	0.577																																						ENST00000375156.3																			0											c.(439-441)ggC>ggT		FK506 binding protein like							193	211	205					6																	32097117		2203	4300	6503	SO:0001819	synonymous_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097117G>A	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.441C>T	6.37:g.32097117G>A							p.G147G	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	711	-			147					A8K5V3|B0UYX8|Q9H5G3	Silent	SNP	ENST00000375156.3	37	c.441C>T	CCDS4738.1																																																																																				0.577	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			109	147	0	0	0	1	0	109	147					A	32097117	G	A	32097117	2	1	411	1	0	0	0	0	0	0	0	1	5916	1074	38	1		1	FKBPL	6	32097117	Silent	SNP	G	TCGA-RY-A847-01A-11D-A36O-08		32097117	139017950	12	35789											
RELN	5649	broad.mit.edu	37	chr7	103202290	103202290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcatcacaaatccctcgtCctgagcacatccaagggcac	7	16	1	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:103202290C>T	ENST00000428762.1	-	35	5480	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	RELN_ENST00000343529.5_Missense_Mutation_p.G1774E|RELN_ENST00000424685.2_Missense_Mutation_p.G1774E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1774	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		AATCCCTCGTCCTGAGCACAT	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				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						c.(5320-5322)gGa>gAa		reelin							104	91	95					7																	103202290		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202290C>T		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.5321G>A	7.37:g.103202290C>T	ENSP00000392423:p.Gly1774Glu					RELN_ENST00000343529.5_Missense_Mutation_p.G1774E|RELN_ENST00000424685.2_Missense_Mutation_p.G1774E	p.G1774E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5480	-			1774			EGF-like 4.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5321G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978161	0.92982	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.55234	0.53;0.53;0.53	5.78	5.78	0.91487	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79157	-0.1919	10	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	1774;1774	P78509-2;P78509	.;RELN_HUMAN	E	1774	ENSP00000392423:G1774E;ENSP00000345694:G1774E;ENSP00000388446:G1774E	ENSP00000345694:G1774E	G	-	2	0	RELN	102989526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.744000	0.94065	0.563000	0.77884	GGA		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	44	0	0	0	1	0	5	44					T	103202290	C	T	103202290	3	4	411	1	0	0	0	0	1	0	0	0	13220	855	30	2	5185	2	RELN	7	103202290	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		103202290	55936373	13	35790											
DUS4L	11062	broad.mit.edu	37	chr7	107214150	107214150	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagctattcattttgtcaggTgattgcccattgattgttca	9	7	3	2			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:107214150T>C	ENST00000265720.3	+	5	602	c.240T>C	c.(238-240)ggT>ggC	p.G80G	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	80							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTTTGTCAGGTGATTGCCCAT	0.368																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.e5-1		dihydrouridine synthase 4-like (S. cerevisiae)							298	279	285					7																	107214150		2203	4300	6503	SO:0001630	splice_region_variant	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107214150T>C	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.239-1T>C	7.37:g.107214150T>C						DUS4L_ENST00000402620.1_Intron	p.G80_splice	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			5	602	+			80					B4DLX0|Q2NKK1	Splice_Site	SNP	ENST00000265720.3	37	c.238_splice	CCDS5745.1																																																																																				0.368	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	Silent	7	225	0	0	0	1	0	7	225					C	107214150	T	C	107214150	5	2	411	1	0	0	0	0	0	0	1	0	4808	1710	59	3	250	3	DUS4L	7	107214150	Splice_Site	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	4011860	107214150	51924513	14	35791											
OR4A47	403253	broad.mit.edu	37	chr11	48510452	48510452	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttctacattttgacCatggtgggcaacctgctcat	8	11	3	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr11:48510452C>A	ENST00000446524.1	+	1	184	c.108C>A	c.(106-108)acC>acA	p.T36T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	36						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(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACATTTTGACCATGGTGGGCA	0.423																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(106-108)acC>acA		olfactory receptor, family 4, subfamily A, member 47							38	36	37					11																	48510452		2201	4295	6496	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510452C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.108C>A	11.37:g.48510452C>A							p.T36T	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	184	+			36						Silent	SNP	ENST00000446524.1	37	c.108C>A	CCDS31490.1																																																																																				0.423	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		8	52	1	0	0.00307968	1	0.00307968	8	52					A	48510452	C	A	48510452	2	1	411	1	0	0	0	0	0	0	0	1	11042	581	21	4		4	OR4A47	11	48510452	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48510452	86496064	15	35792											
HERC1	8925	broad.mit.edu	37	chr15	64045206	64045206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggctcccagcacaaactTtgcgaatgaacattccttgt	7	12	0	1	rs200768642		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:64045206T>C	ENST00000443617.2	-	8	1940	c.1853A>G	c.(1852-1854)aAa>aGa	p.K618R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	618					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						AGCACAAACTTTGCGAATGAA	0.378																																						ENST00000443617.2																			0				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						c.(1852-1854)aAa>aGa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							101	97	98					15																	64045206		1855	4100	5955	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64045206T>C	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.1853A>G	15.37:g.64045206T>C	ENSP00000390158:p.Lys618Arg						p.K618R	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			8	1940	-			618					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1853A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	33	5.237690	0.95240	.	.	ENSG00000103657	ENST00000443617	D	0.85773	-2.03	5.41	5.41	0.78517	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.89497	0.6732	L	0.46947	1.48	0.58432	D	0.999999	D;D	0.63046	0.974;0.992	D;D	0.70487	0.944;0.969	D	0.89837	0.4000	10	0.52906	T	0.07	.	15.7482	0.77962	0.0:0.0:0.0:1.0	.	618;618	C9JUT5;Q15751	.;HERC1_HUMAN	R	618	ENSP00000390158:K618R	ENSP00000390158:K618R	K	-	2	0	HERC1	61832259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.186000	0.69663	0.528000	0.53228	AAA		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		3	41	0	0	0	1	0	3	41					C	64045206	T	C	64045206	3	2	411	1	0	0	0	0	1	0	0	0	7057	1841	64	3	13016	3	HERC1	15	64045206	Missense_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08		64045206	38486186	16	35793											
RASGRF1	5923	broad.mit.edu	37	chr15	79312394	79312394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcaccttcctcctccGtgctttctggctcctccaat	4	19	2	0			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:79312394G>A	ENST00000419573.3	-	11	1869	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T532M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	532	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCTCCTCCGTGCTTTCTGG	0.498																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1594-1596)aCg>aTg		Ras protein-specific guanine nucleotide-releasing factor 1							138	118	125					15																	79312394		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79312394G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1595C>T	15.37:g.79312394G>A	ENSP00000405963:p.Thr532Met					RASGRF1_ENST00000558480.2_Missense_Mutation_p.T532M|RASGRF1_ENST00000560334.1_5'UTR	p.T532M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			11	1869	-			532			PH 2.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1595C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	7.791	0.711501	0.15239	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.31247	1.5	4.05	3.12	0.35913	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.267539	0.35772	N	0.002996	T	0.12135	0.0295	N	0.12182	0.205	0.80722	D	1	P;P;B;B	0.38677	0.642;0.454;0.138;0.066	B;B;B;B	0.29663	0.105;0.029;0.029;0.04	T	0.07986	-1.0744	10	0.45353	T	0.12	.	4.5238	0.11971	0.1191:0.0:0.6614:0.2195	.	532;532;532;532	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	M	532	ENSP00000405963:T532M	ENSP00000378224:T532M	T	-	2	0	RASGRF1	77099449	1.000000	0.71417	0.047000	0.18901	0.376000	0.30014	5.166000	0.64965	1.015000	0.39444	0.555000	0.69702	ACG		0.498	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	66	0	0	0	1	0	8	66					A	79312394	G	A	79312394	3	1	411	1	0	0	0	0	1	0	0	0	13072	1145	40	1	2298	1	RASGRF1	15	79312394	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	15267188	79312394	23218998	17	35794											
ABCC11	85320	broad.mit.edu	37	chr16	48218516	48218516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaggtagttattctgCgcatcagtcagcctcttaaa	8	10	4	0	rs141323816		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr16:48218516C>T	ENST00000394747.1	-	22	3442	c.3093G>A	c.(3091-3093)gcG>gcA	p.A1031A	ABCC11_ENST00000356608.2_Silent_p.A1031A|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.A1031A|ABCC11_ENST00000394748.1_Silent_p.A1031A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	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)	AGTTATTCTGCGCATCAGTCA	0.512																																						ENST00000394747.1																			0				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						c.(3091-3093)gcG>gcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 11		C	,,	0,4402		0,0,2201	170	143	153		3093,3093,3093	-8.4	0	16	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,	1031/1383,1031/1383,1031/1345	48218516	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218516C>T	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.3093G>A	16.37:g.48218516C>T						ABCC11_ENST00000356608.2_Silent_p.A1031A|ABCC11_ENST00000394748.1_Silent_p.A1031A|ABCC11_ENST00000353782.5_Silent_p.A1031A|ABCC11_ENST00000565329.1_5'UTR	p.A1031A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3442	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1031			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3093G>A	CCDS10732.1																																																																																				0.512	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		21	31	0	0	0	1	0	21	31					T	48218516	C	T	48218516	2	4	411	1	0	0	0	0	0	0	0	1	51	755	27	1		1	ABCC11	16	48218516	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48218516	42136237	18	35795											
FUT5	2527	broad.mit.edu	37	chr19	5866758	5866758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtagctcaggtagcgggCgtggtccttgtccagctcct	13	11	1	0			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:5866758C>T	ENST00000588525.1	-	2	1066	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	FUT5_ENST00000252675.5_Missense_Mutation_p.A327T	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	327					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTAGCGGGCGTGGTCCTTG	0.642																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(979-981)Gcc>Acc		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							16	24	21					19																	5866758		2178	4268	6446	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5866758C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.979G>A	19.37:g.5866758C>T	ENSP00000466880:p.Ala327Thr					FUT5_ENST00000588525.1_Missense_Mutation_p.A327T	p.A327T			Q11128	FUT5_HUMAN			5	1541	-			327					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.979G>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409817	0.25465	.	.	ENSG00000130383	ENST00000252675	T	0.22743	1.94	2.34	-1.46	0.08800	.	0.729961	0.11871	U	0.521485	T	0.09555	0.0235	N	0.20401	0.57	0.09310	N	1	B	0.27229	0.172	B	0.28991	0.097	T	0.35847	-0.9772	10	0.17369	T	0.5	.	1.9958	0.03456	0.1962:0.4718:0.1936:0.1385	.	327	Q11128	FUT5_HUMAN	T	327	ENSP00000252675:A327T	ENSP00000252675:A327T	A	-	1	0	FUT5	5817758	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.227000	0.02950	-0.097000	0.12307	0.407000	0.27541	GCC		0.642	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		6	30	0	0	0	1	0	6	30					T	5866758	C	T	5866758	3	4	411	1	0	0	0	0	1	0	0	0	6107	768	27	1	149	1	FUT5	19	5866758	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		5866758	53262225	19	35796											
MUC16	94025	broad.mit.edu	37	chr19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaggtgagatagttgtcGttgaaacagctgaactggct	12	6	1	3	rs111231164		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:9047027G>A	ENST00000397910.4	-	5	34807	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	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.T7168M(1)|p.T11535M(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						GATAGTTGTCGTTGAAACAGC	0.512																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.T7168M(1)|p.T11535M(1)	haematopoietic_and_lymphoid_tissue(2)	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						c.(34603-34605)aCg>aTg		mucin 16, cell surface associated							127	122	124					19																	9047027		2040	4188	6228	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047027G>A	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.34604C>T	19.37:g.9047027G>A	ENSP00000381008:p.Thr11535Met						p.T11535M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34807	-			11537			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34604C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.837	0.941290	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	3.6	0.296	0.15757	.	.	.	.	.	T	0.04003	0.0112	L	0.34521	1.04	.	.	.	D	0.76494	0.999	P	0.57324	0.818	T	0.40572	-0.9556	8	0.87932	D	0	.	5.4895	0.16769	0.3701:0.0:0.6299:0.0	.	11535	B5ME49	.	M	11535	ENSP00000381008:T11535M	ENSP00000381008:T11535M	T	-	2	0	MUC16	8908027	0.002000	0.14202	0.000000	0.03702	0.309000	0.27889	1.143000	0.31553	0.154000	0.19237	0.580000	0.79431	ACG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	41	0	0	0	1	0	10	41					A	9047027	G	A	9047027	3	1	411	1	0	0	0	0	1	0	0	0	9973	1145	40	1	9239	1	MUC16	19	9047027	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	3180269	9047027	50081956	20	35797											
RNF114	55905	broad.mit.edu	37	chr20	48558201	48558201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagccgtggagctcgagCggcagatcgagagcacagag	16	11	0	3			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr20:48558201C>T	ENST00000244061.2	+	2	246	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	snoU13_ENST00000459122.1_RNA	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	82					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						GGAGCTCGAGCGGCAGATCGA	0.557																																						ENST00000244061.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(244-246)Cgg>Tgg		ring finger protein 114							106	101	102					20																	48558201		2203	4300	6503	SO:0001583	missense	55905				cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding	g.chr20:48558201C>T	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.244C>T	20.37:g.48558201C>T	ENSP00000244061:p.Arg82Trp						p.R82W	NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN			2	246	+			82					B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	ENST00000244061.2	37	c.244C>T	CCDS33482.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329349	0.81690	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	D	0.82526	-1.62	6.16	5.17	0.71159	.	0.453463	0.25458	N	0.030522	D	0.83087	0.5178	L	0.36672	1.1	0.32889	D	0.511568	D;D	0.76494	0.999;0.996	P;B	0.56700	0.804;0.424	D	0.86232	0.1638	10	0.87932	D	0	-15.6811	11.3002	0.49300	0.2602:0.7398:0.0:0.0	.	82;82	Q9Y508-2;Q9Y508	.;RN114_HUMAN	W	82	ENSP00000244061:R82W	ENSP00000244061:R82W	R	+	1	2	RNF114	47991608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.139000	0.42149	2.937000	0.99478	0.650000	0.86243	CGG		0.557	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079663.1	NM_018683		4	110	0	0	0	1	0	4	110					T	48558201	C	T	48558201	3	4	411	1	0	0	0	0	1	0	0	0	13429	759	27	1	250	1	RNF114	20	48558201	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48558201	14467319	21	35798											
TGIF2LY	90655	broad.mit.edu	37	chrY	3447662	3447662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcattggccacaaaaCgggcaaagatgcccatgcca	8	15	1	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chrY:3447662C>T	ENST00000559055.2	+	1	507	c.377C>T	c.(376-378)aCg>aTg	p.T126M	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.T126M			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						GGCCACAAAACGGGCAAAGAT	0.547																																						ENST00000559055.2																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(376-378)aCg>aTg		TGFB-induced factor homeobox 2-like, Y-linked							31	30	30					Y																	3447662		622	1977	2599	SO:0001583	missense	90655					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrY:3447662C>T	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"Homeoboxes / TALE class"	18569	protein-coding gene	gene with protein product		400025	"TGFB-induced factor 2-like, Y-linked"				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	ENST00000559055.2:c.377C>T	Y.37:g.3447662C>T	ENSP00000453750:p.Thr126Met					TGIF2LY_ENST00000321217.4_Missense_Mutation_p.T126M	p.T126M			Q8IUE0	TF2LY_HUMAN			1	507	+			126					A2VCU1	Missense_Mutation	SNP	ENST00000559055.2	37	c.377C>T	CCDS14775.1																																																																																				0.547	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214		13	22	0	0	0	1	0	13	22					T	3447662	C	T	3447662	3	4	411	1	0	0	0	0	1	0	0	0	15825	536	19	1	379	1	TGIF2LY	24	3447662	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		3447662	55925904	22	35799											
PGD	5226	broad.mit.edu	37	chr1	10479685	10479685	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctactctctcgtttcctAggctcagcgggattacttcg	8	13	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:10479685A>G	ENST00000270776.8	+	13	1370		c.e13-1		PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000538557.1_Splice_Site	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	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;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CTCGTTTCCTAGGCTCAGCGG	0.587																																						ENST00000538557.1																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14						c.e13-1		phosphogluconate dehydrogenase							150	130	137					1																	10479685		2203	4300	6503	SO:0001630	splice_region_variant	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10479685A>G	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1333-1A>G	1.37:g.10479685A>G						PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000270776.8_Splice_Site				P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	13	1537	+	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)						A8K2Y9|B4DQJ8|Q9BWD8	Splice_Site	SNP	ENST00000270776.8	37		CCDS113.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916783	0.52546	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1686	0.72850	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PGD	10402272	1.000000	0.71417	0.909000	0.35828	0.465000	0.32709	8.829000	0.92055	2.041000	0.60428	0.454000	0.30748	.		0.587	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631	Intron	50	94	0	0	0	1	0	50	94					G	10479685	A	G	10479685	5	3	412	1	0	0	0	0	0	0	1	0	11787	434	15	3	1381	3	PGD	1	10479685	Splice_Site	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08		10479685	238770936	1	35800											
HSPG2	3339	broad.mit.edu	37	chr1	22168605	22168605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcacggtgctgctgggcGggtcgatggagatgaccggg	20	9	0	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:22168605G>A	ENST00000374695.3	-	69	9162	c.9083C>T	c.(9082-9084)cCg>cTg	p.P3028L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3028	Ig-like C2-type 16.				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)	GCTGCTGGGCGGGTCGATGGA	0.677																																						ENST00000374695.3																			0				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						c.(9082-9084)cCg>cTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						31	34	33					1																	22168605		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168605G>A	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.9083C>T	1.37:g.22168605G>A	ENSP00000363827:p.Pro3028Leu						p.P3028L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	69	9162	-		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)	3028			Ig-like C2-type 16.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9083C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018736	0.93404	.	.	ENSG00000142798	ENST00000374695	T	0.43688	0.94	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37623	N	0.002020	T	0.64148	0.2572	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67225	-0.5724	10	0.54805	T	0.06	.	16.4402	0.83898	0.0:0.0:1.0:0.0	.	968;3028	Q59EG0;P98160	.;PGBM_HUMAN	L	3028	ENSP00000363827:P3028L	ENSP00000363827:P3028L	P	-	2	0	HSPG2	22041192	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	9.045000	0.93812	2.203000	0.70933	0.561000	0.74099	CCG		0.677	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		39	51	0	0	0	1	0	39	51					A	22168605	G	A	22168605	3	1	412	1	0	0	0	0	1	0	0	0	7430	1116	39	1	4208	1	HSPG2	1	22168605	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	11688920	22168605	227082016	2	35801											
KLF17	128209	broad.mit.edu	37	chr1	44595585	44595585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggctcagatgttgcccccGcaagatgcccatgaccttgg	11	13	1	3	rs201024510		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:44595585G>A	ENST00000372299.3	+	2	700	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	214					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGTTGCCCCCGCAAGATGCCC	0.572																																						ENST00000372299.3																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18						c.(640-642)ccG>ccA		Kruppel-like factor 17							64	60	61					1																	44595585		2203	4300	6503	SO:0001819	synonymous_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595585G>A	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.642G>A	1.37:g.44595585G>A						KLF17_ENST00000476802.1_Intron	p.P214P	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN			2	700	+	Acute lymphoblastic leukemia(166;0.155)		214					Q86VQ7|Q8N805	Silent	SNP	ENST00000372299.3	37	c.642G>A	CCDS508.1																																																																																				0.572	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		15	110	0	0	0	1	0	15	110					A	44595585	G	A	44595585	2	1	412	1	0	0	0	0	0	0	0	1	8345	1074	38	1		1	KLF17	1	44595585	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	22426980	44595585	204655036	3	35802											
MAGOH	4116	broad.mit.edu	37	chr1	53692717	53692717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtccacaccaatattcagtCtagattggtttaatcttgaa	6	8	3	2	rs200084732	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					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)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|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)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		4	55	0	0	0	1	0	4	55					T	53692717	C	T	53692717	2	4	412	1	0	0	0	0	0	0	0	1	9194	924	32	2		2	MAGOH	1	53692717	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	9097132	53692717	195557904	4	35803											
IL12RB2	3595	broad.mit.edu	37	chr1	67793919	67793919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttaacctggcagaagcaAtgtaaagacatttattgtga	8	5	0	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:67793919A>G	ENST00000262345.1	+	5	1156	c.516A>G	c.(514-516)caA>caG	p.Q172Q	IL12RB2_ENST00000541374.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000371000.1_Silent_p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	172	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GGCAGAAGCAATGTAAAGACA	0.388																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(514-516)caA>caG		interleukin 12 receptor, beta 2							169	164	166					1																	67793919		2203	4300	6503	SO:0001819	synonymous_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67793919A>G	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.516A>G	1.37:g.67793919A>G						IL12RB2_ENST00000371000.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000541374.1_Silent_p.Q172Q	p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			5	1156	+			172			Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Silent	SNP	ENST00000262345.1	37	c.516A>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	A	4.851	0.158193	0.09236	.	.	ENSG00000081985	ENST00000441640	.	.	.	5.35	-6.43	0.01926	.	.	.	.	.	T	0.12092	0.0294	.	.	.	0.21290	N	0.999733	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-2.43	9.6846	0.40091	0.3285:0.1273:0.5442:0.0	.	.	.	.	V	40	.	.	M	+	1	0	IL12RB2	67566507	0.003000	0.15002	0.020000	0.16555	0.672000	0.39443	-1.130000	0.03241	-1.405000	0.02048	0.459000	0.35465	ATG		0.388	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		107	180	0	0	0	1	0	107	180					G	67793919	A	G	67793919	2	3	412	1	0	0	0	0	0	0	0	1	7627	98	4	3		3	IL12RB2	1	67793919	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	14101202	67793919	181456702	5	35804											
OR10J3	441911	broad.mit.edu	37	chr1	159284144	159284144	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaaggtgagatagaagaaGagctgagtggcacagctttg	14	6	0	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:159284144G>T	ENST00000332217.5	-	1	305	c.306C>A	c.(304-306)ctC>ctA	p.L102L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	102						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(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATAGAAGAAGAGCTGAGTGG	0.502																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(304-306)ctC>ctA		olfactory receptor, family 10, subfamily J, member 3							105	102	103					1																	159284144		2203	4300	6503	SO:0001819	synonymous_variant	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284144G>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.306C>A	1.37:g.159284144G>T							p.L102L	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	305	-	all_hematologic(112;0.0429)		102						Silent	SNP	ENST00000332217.5	37	c.306C>A	CCDS30909.1																																																																																				0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			19	130	1	0	2.94398e-08	1	3.15766e-08	19	130					T	159284144	G	T	159284144	2	4	412	1	0	0	0	0	0	0	0	1	10911	929	33	4		4	OR10J3	1	159284144	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	91490225	159284144	89966477	6	35805											
CAMSAP1L1	23271	broad.mit.edu	37	chr1	200801875	200801875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttggctgatagcctgTataatctgcagctgattcaa	9	8	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:200801875T>C	ENST00000236925.4	+	7	911	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Y277H|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.Y277H			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	288	CH.				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)										TGATAGCCTGTATAATCTGCA	0.343																																						ENST00000358823.2																			0											c.(829-831)Tat>Cat		calmodulin regulated spectrin-associated protein family, member 2							88	91	90					1																	200801875		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200801875T>C	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.862T>C	1.37:g.200801875T>C	ENSP00000236925:p.Tyr288His					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Y277H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.Y288H	p.Y277H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			6	1099	+			288			CH.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.829T>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.466560	0.84425	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	D;D;D	0.95342	-3.68;-3.68;-3.68	4.83	4.83	0.62350	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.987;0.999	D	0.93852	0.7146	10	0.22109	T	0.4	-19.3355	14.5603	0.68130	0.0:0.0:0.0:1.0	.	277;288;277	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	H	277;277;288	ENSP00000351684:Y277H;ENSP00000416800:Y277H;ENSP00000236925:Y288H	ENSP00000236925:Y288H	Y	+	1	0	CAMSAP1L1	199068498	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.525000	0.81892	2.025000	0.59659	0.477000	0.44152	TAT		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		15	133	0	0	0	1	0	15	133					C	200801875	T	C	200801875	3	2	412	1	0	0	0	0	1	0	0	0	2612	1638	57	3	851	3	CAMSAP1L1	1	200801875	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	41517731	200801875	48448746	7	35806											
SRGAP2	23380	broad.mit.edu	37	chr1	206634405	206634405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaggcaacaatgaactcGgccctgaatgagctacggga	12	9	0	4	rs200791583		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:206634405G>A	ENST00000414007.1	+	19	2436	c.2436G>A	c.(2434-2436)tcG>tcA	p.S812S				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	952					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAATGAACTCGGCCCTGAATG	0.537																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(2434-2436)tcG>tcA		SLIT-ROBO Rho GTPase activating protein 2		G	,	0,3868		0,0,1934	54	57	56		2596,2599	-2.7	1	1		56	4,8274		0,4,4135	yes	coding-synonymous,coding-synonymous	SRGAP2	NM_001170637.1,NM_015326.2	,	0,4,6069	AA,AG,GG		0.0483,0.0,0.0329	,	951/1071,952/1072	206634405	4,12142	1934	4139	6073	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634405G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2436G>A	1.37:g.206634405G>A							p.S812S			O75044	FNBP2_HUMAN			19	2436	+	Breast(84;0.137)		952						Silent	SNP	ENST00000414007.1	37	c.2436G>A		.	.	.	.	.	.	.	.	.	.	G	6.494	0.459272	0.12342	0.0	4.83E-4	ENSG00000163486	ENST00000295713	.	.	.	6.04	-2.68	0.06041	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	T	0.31916	-0.9926	3	.	.	.	.	3.2215	0.06717	0.2234:0.0617:0.338:0.3769	.	.	.	.	S	866	.	.	G	+	1	0	SRGAP2	204701028	0.789000	0.28775	0.993000	0.49108	0.974000	0.67602	-0.215000	0.09279	-0.327000	0.08551	-1.166000	0.01754	GGC		0.537	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		15	55	0	0	0	1	0	15	55					A	206634405	G	A	206634405	2	1	412	1	0	0	0	0	0	0	0	1	15145	1103	39	1		1	SRGAP2	1	206634405	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	5832530	206634405	42616216	8	35807											
USH2A	7399	broad.mit.edu	37	chr1	216262396	216262396	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatttggccaaaagcctgaTgcctaatagcaattatttca	7	8	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:216262396T>A	ENST00000307340.3	-	23	5230	c.4844A>T	c.(4843-4845)cAt>cTt	p.H1615L	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.H1615L|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1615	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)		AAAAGCCTGATGCCTAATAGC	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(4843-4845)cAt>cTt		Usher syndrome 2A (autosomal recessive, mild)							213	194	200					1																	216262396		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216262396T>A	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.4844A>T	1.37:g.216262396T>A	ENSP00000305941:p.His1615Leu	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.H1615L	p.H1615L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	23	5230	-			1615			Laminin G-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.4844A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268980	0.23221	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77358	-1.09;-1.09	5.8	4.67	0.58626	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.341799	0.21068	N	0.080702	T	0.62756	0.2454	L	0.27053	0.805	0.24864	N	0.992322	B	0.12630	0.006	B	0.12156	0.007	T	0.48875	-0.8996	10	0.23891	T	0.37	.	7.925	0.29870	0.2346:0.0:0.1224:0.643	.	1615	O75445	USH2A_HUMAN	L	1615	ENSP00000305941:H1615L;ENSP00000355910:H1615L	ENSP00000305941:H1615L	H	-	2	0	USH2A	214329019	1.000000	0.71417	0.652000	0.29579	0.717000	0.41224	2.434000	0.44802	1.005000	0.39183	0.533000	0.62120	CAT		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	219	0	0	0	1	0	6	219					A	216262396	T	A	216262396	3	1	412	1	0	0	0	0	1	0	0	0	17033	1464	51	5	10964	5	USH2A	1	216262396	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	9627991	216262396	32988225	9	35808											
WDR64	128025	broad.mit.edu	37	chr1	241886728	241886728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaacatgtcgtcagcctttCctctgcaaaggtaacaaaaa	6	11	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:241886728C>T	ENST00000366552.2	+	9	1361	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	385								p.S385Y(1)|p.S105Y(1)		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)			GTCAGCCTTTCCTCTGCAAAG	0.383																																						ENST00000366552.2																			2	Substitution - Missense(2)	p.S385Y(1)|p.S105Y(1)	lung(2)	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						c.(1153-1155)tCc>tTc		WD repeat domain 64							74	69	71					1																	241886728		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241886728C>T	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.1154C>T	1.37:g.241886728C>T	ENSP00000355510:p.Ser385Phe					WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		9	1361	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	385					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1154C>T		.	.	.	.	.	.	.	.	.	.	C	16.48	3.134157	0.56828	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.54071	1.63;0.59;4.51	4.7	4.7	0.59300	.	0.109676	0.41194	D	0.000939	T	0.73853	0.3640	M	0.84082	2.675	0.39940	D	0.974396	D	0.71674	0.998	D	0.80764	0.994	T	0.79914	-0.1602	10	0.87932	D	0	-19.9756	14.9266	0.70884	0.0:1.0:0.0:0.0	.	105	D1MPS4	.	F	385;385;156	ENSP00000355510:S385F;ENSP00000402446:S385F;ENSP00000406656:S156F	ENSP00000355510:S385F	S	+	2	0	WDR64	239953351	0.986000	0.35501	0.984000	0.44739	0.619000	0.37552	4.370000	0.59517	2.308000	0.77769	0.563000	0.77884	TCC		0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		17	39	0	0	0	1	0	17	39					T	241886728	C	T	241886728	3	4	412	1	0	0	0	0	1	0	0	0	17312	855	30	2	1188	2	WDR64	1	241886728	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	25624332	241886728	7363893	10	35809											
C2orf89	129293	broad.mit.edu	37	chr2	85097395	85097395	+	Frame_Shift_Del	DEL	T	T	-													gatggcactgctcttccaccTtttccactgccccagtctgt							TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:85097395delT	ENST00000409520.2	-	2	665	c.623delA	c.(622-624)aagfs	p.K208fs	TRABD2A_ENST00000335459.5_Frame_Shift_Del_p.K208fs|TRABD2A_ENST00000409133.1_Frame_Shift_Del_p.K208fs	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	208					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CTCTTCCACCTTTTCCACTGC	0.493																																						ENST00000335459.5																			0											c.(622-624)agfs		TraB domain containing 2A							164	169	167					2																	85097395		2007	4177	6184	SO:0001589	frameshift_variant	129293							g.chr2:85097395delT	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.623delA	2.37:g.85097395delT	ENSP00000387075:p.Lys208fs					TRABD2A_ENST00000409520.2_Frame_Shift_Del_p.K208fs|TRABD2A_ENST00000409133.1_Frame_Shift_Del_p.K208fs	p.K208fs	NM_001080824.1	NP_001074293.1					2	828	-								B4DKK8|I6UMB9	Frame_Shift_Del	DEL	ENST00000409520.2	37	c.623delA																																																																																					0.493	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		7	366						7	366	---	---	---	---	-	85097395	T	-	85097395	7	5	412	1	0	1	0	1	0	0	0	0	2203	1609	56	0	767	0	C2orf89	2	85097395	Frame_Shift_Del	DEL	T	TCGA-S9-A6TS-01A-12D-A33T-08		85097395	158101978	11	35810											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	11	4	0	2	rs111515821		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29	35	33					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	44	1	0	1.6384e-10	1	1.83115e-10	5	44					T	97869979	G	T	97869979	3	4	412	1	0	0	0	0	1	0	0	0	665	1174	41	4	3238	4	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	12772584	97869979	145329394	12	35811											
CNGA3	1261	broad.mit.edu	37	chr2	99013230	99013230	+	Missense_Mutation	SNP	G	G	T													agctggccgtggtggctgatGatggggtcacccagttcgtg							TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013230G>T	ENST00000272602.2	+	7	1636	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	CNGA3_ENST00000393504.1_Missense_Mutation_p.D533Y|CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533			D -> H (probable disease-associated mutation found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:24903488}.		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						GGTGGCTGATGATGGGGTCAC	0.562																																						ENST00000393504.1																			0				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						c.(1597-1599)Gat>Tat		cyclic nucleotide gated channel alpha 3							120	113	115					2																	99013230		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013230G>T	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.1597G>T	2.37:g.99013230G>T	ENSP00000272602:p.Asp533Tyr					CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533Y	p.D533Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2014	+			533					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1597G>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064791	0.55432	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.994	D	0.98985	1.0806	10	0.87932	D	0	.	18.154	0.89686	0.0:0.0:1.0:0.0	.	537;515;533	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	Y	533;515;533;537	ENSP00000377140:D533Y;ENSP00000410070:D515Y;ENSP00000272602:D533Y;ENSP00000386761:D537Y	ENSP00000272602:D533Y	D	+	1	0	CNGA3	98379662	1.000000	0.71417	0.111000	0.21465	0.427000	0.31564	9.263000	0.95617	2.826000	0.97356	0.563000	0.77884	GAT		0.562	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		18	235	1	0	6.94344e-10	1	7.69565e-10	18	235					T	99013230	G	T	99013230	3	4	412	1	0	0	0	0	1	0	0	0	3598	1290	45	4	1623	4	CNGA3	2	99013230	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1143251	99013230	144186143	13	35812	153	2									
CNGA3	1261	broad.mit.edu	37	chr2	99013232	99013232	+	Missense_Mutation	SNP	T	T	A													ctggccgtggtggctgatgaTggggtcacccagttcgtggt							TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013232T>A	ENST00000272602.2	+	7	1638	c.1599T>A	c.(1597-1599)gaT>gaA	p.D533E	CNGA3_ENST00000393504.1_Missense_Mutation_p.D533E|CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533			D -> H (probable disease-associated mutation found in patients with cone-rod dystrophy). {ECO:0000269|PubMed:24903488}.		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						TGGCTGATGATGGGGTCACCC	0.562																																						ENST00000393504.1																			0				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						c.(1597-1599)gaT>gaA		cyclic nucleotide gated channel alpha 3							120	113	115					2																	99013232		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013232T>A	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.1599T>A	2.37:g.99013232T>A	ENSP00000272602:p.Asp533Glu					CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533E	p.D533E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2016	+			533					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1599T>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056053	0.55325	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.42	-10.8	0.00216	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	M	0.67569	2.06	0.58432	D	0.999992	P;D;P	0.65815	0.859;0.995;0.951	P;D;P	0.70935	0.781;0.971;0.85	D	0.99942	1.1418	10	0.62326	D	0.03	.	18.5133	0.90925	0.0:0.5933:0.0:0.4067	.	537;515;533	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	E	533;515;533;537	ENSP00000377140:D533E;ENSP00000410070:D515E;ENSP00000272602:D533E;ENSP00000386761:D537E	ENSP00000272602:D533E	D	+	3	2	CNGA3	98379664	0.062000	0.20869	0.012000	0.15200	0.441000	0.31987	-0.730000	0.04915	-2.607000	0.00447	-0.400000	0.06385	GAT		0.562	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		17	237	0	0	0	1	0	17	237					A	99013232	T	A	99013232	3	1	412	1	0	0	0	0	1	0	0	0	3598	1461	51	5	1625	5	CNGA3	2	99013232	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2	99013232	144186141	14	35813	153	2									
MAP1D	254042	broad.mit.edu	37	chr2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcacacagtatagttttgCcggctgcagtttcttcagct	8	10	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:172926348C>T	ENST00000315796.4	+	2	550	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	55					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						TATAGTTTTGCCGGCTGCAGT	0.398																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(163-165)Ccg>Tcg		methionyl aminopeptidase type 1D (mitochondrial)							210	229	223					2																	172926348		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172926348C>T	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.163C>T	2.37:g.172926348C>T	ENSP00000315152:p.Pro55Ser					METAP1D_ENST00000488581.1_3'UTR	p.P55S	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			2	550	+			55					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.163C>T	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671201	0.88348	.	.	ENSG00000172878	ENST00000315796	T	0.47869	0.83	5.92	5.92	0.95590	Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.87097	2.86	0.80722	D	1	D	0.59767	0.986	P	0.58391	0.838	T	0.75929	-0.3144	10	0.87932	D	0	-1.1687	20.3151	0.98650	0.0:1.0:0.0:0.0	.	55	Q6UB28	AMP1D_HUMAN	S	55	ENSP00000315152:P55S	ENSP00000315152:P55S	P	+	1	0	METAP1D	172634594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.955000	0.70306	2.809000	0.96659	0.467000	0.42956	CCG		0.398	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		7	702	0	0	0	1	0	7	702					T	172926348	C	T	172926348	3	4	412	1	0	0	0	0	1	0	0	0	9229	739	26	2	169	2	MAP1D	2	172926348	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	73913116	172926348	70273025	15	35814											
TTN	7273	broad.mit.edu	37	chr2	179472196	179472196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtaatcacatatctgCcatggtcttttcgcagtgca	8	10	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179472196C>T	ENST00000591111.1	-	227	48520	c.48296G>A	c.(48295-48297)gGc>gAc	p.G16099D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G17740D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D			Q8WZ42	TITIN_HUMAN	titin	16099	Ig-like 99.				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)			CACATATCTGCCATGGTCTTT	0.413																																						ENST00000589042.1																			0				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						c.(53218-53220)gGc>gAc		titin							304	285	291					2																	179472196		1905	4118	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472196C>T	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.48296G>A	2.37:g.179472196C>T	ENSP00000465570:p.Gly16099Asp					TTN_ENST00000591111.1_Missense_Mutation_p.G16099D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.G17740D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	53443	-			16099					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	ENST00000591111.1	37	c.53219G>A		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136464	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92632	0.7659	H	0.96518	3.835	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	0.93962	0.7241	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8675;8800;8867;16099	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15172;8675;8867;8800;8675	ENSP00000343764:G15172D;ENSP00000434586:G8675D;ENSP00000340554:G8867D;ENSP00000352154:G8800D	ENSP00000340554:G8867D	G	-	2	0	TTN	179180441	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.440000	0.80464	2.840000	0.97914	0.655000	0.94253	GGC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	412	0	0	0	1	0	52	412					T	179472196	C	T	179472196	3	4	412	1	0	0	0	0	1	0	0	0	16732	739	26	2	54818	2	TTN	2	179472196	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	6545848	179472196	63727177	16	35815											
TTN	7273	broad.mit.edu	37	chr2	179616389	179616392	+	Intron	DEL	ACCT	ACCT	-													ttcactattaattgctagtaAcctataacttccagaatctc							TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179616389_179616392delACCT	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.RL3579fs			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)			ATTGCTAGTAACCTATAACTTCCA	0.377																																						ENST00000360870.5																			0				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						c.(10735-10740)tafs		titin																																				SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616389_179616392delACCT	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+1458AGGT>-	2.37:g.179616389_179616392delACCT						TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	p.RL3579fs	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10957_10960	-			3574			Ig-like 21.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.10735_10738delAGGT																																																																																					0.377	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	312						11	312	---	---	---	---	-	179616392	ACCT	-	179616389	6	5	412	0	1	1	0	1	0	0	0	0	16732	40	2	0		0	TTN	2	179616389	Intron	DEL	ACCT	TCGA-S9-A6TS-01A-12D-A33T-08	144193	179616389	63582984	17	35816											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			77	91	0	0	0	1	0	77	91					T	209113112	C	T	209113112	3	4	412	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	29496723	209113112	34086261	18	35817											
INPP5D	3635	broad.mit.edu	37	chr2	234113018	234113018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcgcggcgaggggccCggcaagcaggtgcccgcgcc	18	15	0	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:234113018C>T	ENST00000359570.5	+	28	3186	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P	INPP5D_ENST00000450745.1_Silent_p.P826P|INPP5D_ENST00000455936.2_Silent_p.P826P|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1074	Pro-rich.				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)		GCGAGGGGCCCGGCAAGCAGG	0.706																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(3184-3186)ccC>ccT		inositol polyphosphate-5-phosphatase, 145kDa							16	22	20					2																	234113018		1933	4116	6049	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234113018C>T	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.3186C>T	2.37:g.234113018C>T						INPP5D_ENST00000455936.2_Missense_Mutation_p.826_826insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.826_826insP	p.1062_1062insP			Q92835	SHIP1_HUMAN		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)	28	3186	+		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)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3186C>T																																																																																					0.706	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		6	67	0	0	0	1	0	6	67					T	234113018	C	T	234113018	2	4	412	1	0	0	0	0	0	0	0	1	7756	639	23	1		1	INPP5D	2	234113018	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	24999906	234113018	9086355	19	35818											
LRRC3B	116135	broad.mit.edu	37	chr3	26751539	26751539	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acttgtccgacaatcggattCaaagtgtgcacaaaaatgcc	8	10	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:26751539C>G	ENST00000396641.2	+	2	968	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E|LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	126						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATCGGATTCAAAGTGTGCA	0.478																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(376-378)Caa>Gaa		leucine rich repeat containing 3B							61	57	58					3																	26751539		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751539C>G	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.376C>G	3.37:g.26751539C>G	ENSP00000379880:p.Gln126Glu					LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E	p.Q126E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	968	+			126					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.376C>G	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	0.792	-0.758420	0.03019	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	6.17	6.17	0.99709	.	0.107163	0.64402	D	0.000006	T	0.81123	0.4757	N	0.17674	0.51	0.38810	D	0.955405	B	0.13594	0.008	B	0.12156	0.007	T	0.75184	-0.3407	10	0.23891	T	0.37	-8.7936	14.0567	0.64774	0.255:0.745:0.0:0.0	.	126	Q96PB8	LRC3B_HUMAN	E	126	ENSP00000379880:Q126E;ENSP00000398184:Q126E;ENSP00000406370:Q126E;ENSP00000394940:Q126E	ENSP00000379880:Q126E	Q	+	1	0	LRRC3B	26726543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.109000	0.31135	2.941000	0.99782	0.655000	0.94253	CAA		0.478	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		4	113	0	0	0	1	0	4	113					G	26751539	C	G	26751539	3	3	412	1	0	0	0	0	1	0	0	0	8996	827	29	4	378	4	LRRC3B	3	26751539	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		26751539	171270891	20	35819											
CDCP1	64866	broad.mit.edu	37	chr3	45132791	45132791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcttggggagcacatcctCgtccaggctgaagatctcct	12	12	1	2	rs574793682		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:45132791C>T	ENST00000296129.1	-	7	2001	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	623						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGCACATCCTCGTCCAGGCTG	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19907	0.0		0.0	False		,,,				2504	0.0					ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1867-1869)Gag>Aag		CUB domain containing protein 1							104	97	99					3																	45132791		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45132791C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1867G>A	3.37:g.45132791C>T	ENSP00000296129:p.Glu623Lys						p.E623K	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	7	2001	-			623					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.1867G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067273	0.55539	.	.	ENSG00000163814	ENST00000296129	T	0.24723	1.84	6.03	6.03	0.97812	.	0.290331	0.42548	D	0.000688	T	0.23532	0.0569	L	0.54323	1.7	0.80722	D	1	P	0.44946	0.846	B	0.34652	0.187	T	0.02307	-1.1179	10	0.31617	T	0.26	.	15.2955	0.73902	0.1399:0.86:0.0:0.0	.	623	Q9H5V8	CDCP1_HUMAN	K	623	ENSP00000296129:E623K	ENSP00000296129:E623K	E	-	1	0	CDCP1	45107795	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	3.632000	0.54287	2.868000	0.98415	0.555000	0.69702	GAG		0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		18	135	0	0	0	1	0	18	135					T	45132791	C	T	45132791	3	4	412	1	0	0	0	0	1	0	0	0	3093	893	31	1	655	1	CDCP1	3	45132791	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	18381252	45132791	152889639	21	35820											
SMARCC1	6599	broad.mit.edu	37	chr3	47762184	47762184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagccccaatgcactaAcacttgcttctcttttctca	4	13	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:47762184A>C	ENST00000254480.5	-	7	807	c.688T>G	c.(688-690)Tta>Gta	p.L230V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	230					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|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)|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)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAATGCACTAACACTTGCTTC	0.353																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(688-690)Tta>Gta		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							198	197	197					3																	47762184		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47762184A>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.688T>G	3.37:g.47762184A>C	ENSP00000254480:p.Leu230Val					SMARCC1_ENST00000425518.1_5'UTR	p.L230V	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	7	807	-			230					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.688T>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069026	0.55539	.	.	ENSG00000173473	ENST00000254480	T	0.56611	0.45	5.56	-0.691	0.11305	BRCT (1);Chromo domain/shadow (1);	0.072196	0.56097	D	0.000029	T	0.50360	0.1611	M	0.78637	2.42	0.34184	D	0.671281	B	0.29886	0.26	B	0.27608	0.081	T	0.61108	-0.7129	10	0.87932	D	0	-2.8385	12.3941	0.55374	0.237:0.0:0.763:0.0	.	230	Q92922	SMRC1_HUMAN	V	230	ENSP00000254480:L230V	ENSP00000254480:L230V	L	-	1	2	SMARCC1	47737188	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	0.963000	0.29293	-0.140000	0.11394	0.482000	0.46254	TTA		0.353	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			45	338	0	0	0	1	0	45	338					C	47762184	A	C	47762184	3	2	412	1	0	0	0	0	1	0	0	0	14775	40	2	5	2717	5	SMARCC1	3	47762184	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	2629393	47762184	150260246	22	35821											
USP4	7375	broad.mit.edu	37	chr3	49362451	49362451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggatgttgaatagcttcCgcatctctttctcgatggtt	10	9	2	1	rs117411669	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:49362451C>T	ENST00000265560.4	-	5	555	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	USP4_ENST00000351842.4_Missense_Mutation_p.R170Q|USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	170	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				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)			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)		GAATAGCTTCCGCATCTCTTT	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		22939	0.002		0.0	False		,,,				2504	0.0					ENST00000351842.4																			0				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						c.(508-510)cGg>cAg		ubiquitin specific peptidase 4 (proto-oncogene)							162	162	162					3																	49362451		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49362451C>T	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.509G>A	3.37:g.49362451C>T	ENSP00000265560:p.Arg170Gln					USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000265560.4_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	p.R170Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		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)	5	517	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	170					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.509G>A	CCDS2793.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	33	5.241851	0.95272	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.30981	2.0;2.14;1.51	5.51	5.51	0.81932	.	0.061185	0.64402	D	0.000002	T	0.56366	0.1980	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.75484	0.986;0.584	T	0.51466	-0.8702	10	0.32370	T	0.25	-17.6222	17.9838	0.89150	0.0:1.0:0.0:0.0	.	170;170	Q13107-2;Q13107	.;UBP4_HUMAN	Q	170	ENSP00000341028:R170Q;ENSP00000265560:R170Q;ENSP00000400623:R170Q	ENSP00000265560:R170Q	R	-	2	0	USP4	49337455	1.000000	0.71417	0.951000	0.38953	0.626000	0.37791	5.974000	0.70465	2.604000	0.88044	0.491000	0.48974	CGG		0.488	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		102	150	0	0	0	1	0	102	150					T	49362451	C	T	49362451	3	4	412	1	0	0	0	0	1	0	0	0	17068	652	23	1	2454	1	USP4	3	49362451	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	1600267	49362451	148659979	23	35822											
KBTBD8	84541	broad.mit.edu	37	chr3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctctgggaccttggccGgcattttgaatgtgctgttg	14	9	1	1	rs536406085	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:67058751G>A	ENST00000417314.2	+	4	1797	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q|KBTBD8_ENST00000295568.4_Missense_Mutation_p.R557Q			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	583						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACCTTGGCCGGCATTTTGAA	0.443													G|||	3	0.000599042	0.0	0.0	5008	,	,		18206	0.002		0.001	False		,,,				2504	0.0					ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1669-1671)cGg>cAg		kelch repeat and BTB (POZ) domain containing 8							66	66	66					3																	67058751		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058751G>A	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1748G>A	3.37:g.67058751G>A	ENSP00000401878:p.Arg583Gln					KBTBD8_ENST00000417314.2_Missense_Mutation_p.R583Q|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q	p.R557Q	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1801	+		Lung NSC(201;0.0765)	583					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1670G>A	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652234	0.67472	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71817	-0.59;-0.45;-0.6	5.37	5.37	0.77165	.	0.053759	0.85682	D	0.000000	T	0.76586	0.4008	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.70227	0.456;0.968	T	0.77632	-0.2515	10	0.48119	T	0.1	.	19.1113	0.93317	0.0:0.0:1.0:0.0	.	141;583	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	Q	557;141;583	ENSP00000295568:R557Q;ENSP00000419738:R141Q;ENSP00000401878:R583Q	ENSP00000295568:R557Q	R	+	2	0	KBTBD8	67141441	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.828000	0.99408	2.523000	0.85059	0.650000	0.86243	CGG		0.443	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		11	145	0	0	0	1	0	11	145					A	67058751	G	A	67058751	3	1	412	1	0	0	0	0	1	0	0	0	7999	1116	39	1	1762	1	KBTBD8	3	67058751	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	17696300	67058751	130963679	24	35823											
LMOD3	56203	broad.mit.edu	37	chr3	69168928	69168928	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgttctttgaatgctttgTcagttacctgctggcagttg	10	8	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:69168928T>C	ENST00000420581.2	-	2	757	c.578A>G	c.(577-579)gAc>gGc	p.D193G	LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G|LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	193						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)		GAATGCTTTGTCAGTTACCTG	0.408																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(577-579)gAc>gGc		leiomodin 3 (fetal)							113	101	105					3																	69168928		1947	4141	6088	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168928T>C	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.578A>G	3.37:g.69168928T>C	ENSP00000414670:p.Asp193Gly					LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G|LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G	p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		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)	2	757	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	193					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.578A>G	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	T	0.226	-1.024639	0.02061	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.91407	-2.84;-2.84;-2.84	5.34	0.179	0.15063	.	1.118810	0.06653	N	0.763032	T	0.78723	0.4328	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.63193	-0.6692	10	0.29301	T	0.29	-1.1475	5.9656	0.19322	0.0:0.2229:0.1687:0.6083	.	193	Q0VAK6	LMOD3_HUMAN	G	193	ENSP00000414670:D193G;ENSP00000417210:D193G;ENSP00000418645:D193G	ENSP00000414670:D193G	D	-	2	0	LMOD3	69251618	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.633000	0.24598	-0.222000	0.09958	0.482000	0.46254	GAC		0.408	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		5	38	0	0	0	1	0	5	38					C	69168928	T	C	69168928	3	2	412	1	0	0	0	0	1	0	0	0	8858	1667	58	3	1112	3	LMOD3	3	69168928	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2110177	69168928	128853502	25	35824											
CCDC58	131076	broad.mit.edu	37	chr3	122090540	122090540	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagactcataaagttgtttAcaggtttggctggcatcaat	9	7	2	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:122090540A>C	ENST00000291458.5	-	2	165	c.159T>G	c.(157-159)tgT>tgG	p.C53W	CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	53						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AAAGTTGTTTACAGGTTTGGC	0.373																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.(157-159)tgT>tgG		coiled-coil domain containing 58							113	108	109					3																	122090540		2203	4300	6503	SO:0001583	missense	131076							g.chr3:122090540A>C	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.159T>G	3.37:g.122090540A>C	ENSP00000291458:p.Cys53Trp					CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W	p.C53W	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	2	165	-			53					Q32LY6	Missense_Mutation	SNP	ENST00000291458.5	37	c.159T>G	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.04|17.04	3.287271|3.287271	0.59867|0.59867	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77322|.	0.4113|.	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.80576|.	-0.1321|.	9|.	0.87932|.	D|.	0|.	.|.	7.8536|7.8536	0.29470|0.29470	0.8428:0.0:0.1572:0.0|0.8428:0.0:0.1572:0.0	.|.	53|.	Q4VC31|.	CCD58_HUMAN|.	W|E	53;39|50	.|.	ENSP00000291458:C53W|.	C|X	-|-	3|1	2|0	CCDC58|CCDC58	123573230|123573230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.955000|4.955000	0.63638|0.63638	2.267000|2.267000	0.75376|0.75376	0.383000|0.383000	0.25322|0.25322	TGT|TAA		0.373	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928		80	126	0	0	0	1	0	80	126					C	122090540	A	C	122090540	3	2	412	1	0	0	0	0	1	0	0	0	2828	389	14	5	291	5	CCDC58	3	122090540	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	52921612	122090540	75931890	26	35825											
SUCNR1	56670	broad.mit.edu	37	chr3	151598945	151598945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttttgtgatgtgttTcttttattacaagattgctc	6	7	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:151598945T>C	ENST00000362032.5	+	3	719	c.614T>C	c.(613-615)tTc>tCc	p.F205S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	205						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTGATGTGTTTCTTTTATTAC	0.428																																						ENST00000362032.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(613-615)tTc>tCc		succinate receptor 1	Succinic acid(DB00139)						181	169	173					3																	151598945		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598945T>C	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.614T>C	3.37:g.151598945T>C	ENSP00000355156:p.Phe205Ser					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.F205S	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	719	+			205					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.614T>C	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935790	0.52972	.	.	ENSG00000198829	ENST00000362032	T	0.39406	1.08	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.379178	0.27262	U	0.020170	T	0.54631	0.1870	M	0.67953	2.075	0.28884	N	0.894267	D	0.57257	0.979	P	0.57960	0.83	T	0.52895	-0.8514	10	0.21540	T	0.41	.	12.9282	0.58272	0.0:0.0:0.1349:0.8651	.	205	Q9BXA5	SUCR1_HUMAN	S	205	ENSP00000355156:F205S	ENSP00000355156:F205S	F	+	2	0	SUCNR1	153081635	0.921000	0.31238	1.000000	0.80357	0.850000	0.48378	1.154000	0.31688	2.205000	0.71048	0.528000	0.53228	TTC		0.428	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		6	228	0	0	0	1	0	6	228					C	151598945	T	C	151598945	3	2	412	1	0	0	0	0	1	0	0	0	15365	1783	62	3	620	3	SUCNR1	3	151598945	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	29508405	151598945	46423485	27	35826											
POLN	353497	broad.mit.edu	37	chr4	2210033	2210033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgctttcttttatgccccTttttctgtagaactgaagcc	6	10	2	2	rs554874741	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:2210033T>C	ENST00000511885.2	-	5	748	c.395A>G	c.(394-396)aAg>aGg	p.K132R	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.K132R			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	132					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTTATGCCCCTTTTTCTGTAG	0.313								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(394-396)aAg>aGg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							72	77	76					4																	2210033		2201	4295	6496	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2210033T>C	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.395A>G	4.37:g.2210033T>C	ENSP00000435506:p.Lys132Arg					POLN_ENST00000382865.1_Missense_Mutation_p.K132R|POLN_ENST00000515357.1_5'UTR	p.K132R			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		5	748	-			132					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.395A>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	6.555	0.470658	0.12461	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.44881	0.91;0.91	5.27	-10.5	0.00291	.	1.849850	0.02287	N	0.069972	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.11155	-1.0599	10	0.36615	T	0.2	0.6144	1.363	0.02195	0.1312:0.2643:0.2147:0.3898	.	132;132	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	R	132	ENSP00000435506:K132R;ENSP00000372316:K132R	ENSP00000372316:K132R	K	-	2	0	POLN	2179831	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.566000	0.05922	-2.310000	0.00650	-0.527000	0.04329	AAG		0.313	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		4	263	0	0	0	1	0	4	263					C	2210033	T	C	2210033	3	2	412	1	0	0	0	0	1	0	0	0	12207	1609	56	3	2395	3	POLN	4	2210033	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		2210033	188944243	28	35827											
TACR3	6870	broad.mit.edu	37	chr4	104512798	104512798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgatagggcagccagcAgatagcaaatgtcatgacaa	10	7	1	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:104512798A>G	ENST00000304883.2	-	4	1071	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCCAGCAGATAGCAAAT	0.338																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(931-933)Tgc>Cgc		tachykinin receptor 3							78	75	76					4																	104512798		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104512798A>G	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.931T>C	4.37:g.104512798A>G	ENSP00000303325:p.Cys311Arg					RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.C311R	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1071	-		Hepatocellular(203;0.217)	311					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.931T>C	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162145	0.78226	.	.	ENSG00000169836	ENST00000304883	T	0.54279	0.58	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.088274	0.85682	D	0.000000	D	0.82917	0.5141	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89568	0.3811	10	0.87932	D	0	.	14.5917	0.68371	1.0:0.0:0.0:0.0	.	311	P29371	NK3R_HUMAN	R	311	ENSP00000303325:C311R	ENSP00000303325:C311R	C	-	1	0	TACR3	104732247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.789000	0.91839	2.097000	0.63578	0.533000	0.62120	TGC		0.338	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		5	88	0	0	0	1	0	5	88					G	104512798	A	G	104512798	3	3	412	1	0	0	0	0	1	0	0	0	15504	188	7	3	474	3	TACR3	4	104512798	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	102302765	104512798	86641478	29	35828											
ANKRD50	57182	broad.mit.edu	37	chr4	125631651	125631651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattttgcagactttctcttCccaaggattagtcataacgg	7	10	2	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:125631651C>T	ENST00000504087.1	-	2	1053	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	6										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTTCTCTTCCCAAGGATTA	0.408																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(16-18)Gaa>Aaa		ankyrin repeat domain 50							108	116	113					4																	125631651		2203	4299	6502	SO:0001583	missense	57182							g.chr4:125631651C>T	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.16G>A	4.37:g.125631651C>T	ENSP00000425658:p.Glu6Lys					ANKRD50_ENST00000515641.1_Intron	p.E6K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			2	1053	-			6					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.16G>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836255	0.71373	.	.	ENSG00000151458	ENST00000504087	T	0.18810	2.19	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000006	T	0.13884	0.0336	N	0.08118	0	0.80722	D	1	B	0.17268	0.021	B	0.15870	0.014	T	0.08722	-1.0708	10	0.87932	D	0	.	17.2967	0.87172	0.0:1.0:0.0:0.0	.	6	Q9ULJ7	ANR50_HUMAN	K	6	ENSP00000425658:E6K	ENSP00000425658:E6K	E	-	1	0	ANKRD50	125851101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.634000	0.46528	2.756000	0.94617	0.561000	0.74099	GAA		0.408	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		28	287	0	0	0	1	0	28	287					T	125631651	C	T	125631651	3	4	412	1	0	0	0	0	1	0	0	0	677	864	30	2	4285	2	ANKRD50	4	125631651	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	21118853	125631651	65522625	30	35829											
FBXW7	55294	broad.mit.edu	37	chr4	153251912	153251912	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atttgagttctcctcgcctcCagttagtatcaattctgtgc	7	11	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:153251912C>G	ENST00000281708.4	-	7	2323	c.1094G>C	c.(1093-1095)tGg>tCg	p.W365S	FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S|FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	365					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)				TCCTCGCCTCCAGTTAGTATC	0.398			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(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						c.(1093-1095)tGg>tCg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							338	290	306					4																	153251912		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153251912C>G	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.1094G>C	4.37:g.153251912C>G	ENSP00000281708:p.Trp365Ser					FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S	p.W365S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			7	2323	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	365					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1094G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816664	0.90790	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.66638	-0.15;-0.19;-0.22;0.03	6.07	6.07	0.98685	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	M	0.69358	2.11	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	0.82049	-0.0650	10	0.87932	D	0	-10.918	20.6439	0.99570	0.0:1.0:0.0:0.0	.	189;365;247;285	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	365;247;285;189	ENSP00000281708:W365S;ENSP00000296555:W247S;ENSP00000263981:W285S;ENSP00000377528:W189S	ENSP00000263981:W285S	W	-	2	0	FBXW7	153471362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	TGG		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			11	277	0	0	0	1	0	11	277					G	153251912	C	G	153251912	3	3	412	1	0	0	0	0	1	0	0	0	5769	595	21	4	1053	4	FBXW7	4	153251912	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	27620261	153251912	37902364	31	35830											
SLC9A3	6550	broad.mit.edu	37	chr5	524298	524298	+	Frame_Shift_Del	DEL	A	A	-													cctgcacgtgggcccactcgAaggtgaccacctggaagccc							TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:524298delA	ENST00000264938.3	-	1	149	c.140delT	c.(139-141)ttcfs	p.F47fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs|RP11-310P5.2_ENST00000515085.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	47					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCACTCGAAGGTGACCAC	0.731																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(139-141)tcfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							16	17	16					5																	524298		2177	4262	6439	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:524298delA		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.140delT	5.37:g.524298delA	ENSP00000264938:p.Phe47fs					SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs	p.F47fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		1	149	-			47					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.140delT	CCDS3855.1																																																																																				0.731	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		2	4						2	4	---	---	---	---	-	524298	A	-	524298	7	5	412	1	0	1	0	1	0	0	0	0	14713	246	9	0	2432	0	SLC9A3	5	524298	Frame_Shift_Del	DEL	A	TCGA-S9-A6TS-01A-12D-A33T-08		524298	180390962	32	35831											
TCERG1	10915	broad.mit.edu	37	chr5	145838643	145838643	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctcaggctcaggcccAggcccaggcccaggcccagg	14	18	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:145838643A>C	ENST00000296702.5	+	4	673	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	212	Ala/Gln-rich.				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)			gctcaggcccaggcccaggcc	0.736																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(634-636)cAg>cCg		transcription elongation regulator 1							11	14	13					5																	145838643		2182	4271	6453	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838643A>C	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.635A>C	5.37:g.145838643A>C	ENSP00000296702:p.Gln212Pro					TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	673	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	212			Ala/Gln-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.635A>C	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	4.403	0.074420	0.08485	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.35605	1.3;1.3	4.43	4.43	0.53597	.	0.256047	0.27659	N	0.018395	T	0.24586	0.0596	L	0.27053	0.805	0.34474	D	0.703081	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.0;0.0	T	0.23940	-1.0174	10	0.33940	T	0.23	-0.7271	10.2474	0.43350	1.0:0.0:0.0:0.0	.	212;212;212	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	P	212	ENSP00000296702:Q212P;ENSP00000377943:Q212P	ENSP00000296702:Q212P	Q	+	2	0	TCERG1	145818836	0.902000	0.30710	0.987000	0.45799	0.014000	0.08584	3.105000	0.50314	1.986000	0.57962	0.379000	0.24179	CAG		0.736	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		22	55	0	0	0	1	0	22	55					C	145838643	A	C	145838643	3	2	412	1	0	0	0	0	1	0	0	0	15682	188	7	5	649	5	TCERG1	5	145838643	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	145314345	145838643	35076617	33	35832											
TFAP2B	7021	broad.mit.edu	37	chr6	50810826	50810826	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactttgtaaagaatttacGgatctactggcgcaggaccg	10	9	1	1	rs151001753	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:50810826G>T	ENST00000393655.3	+	7	1273	c.1104G>T	c.(1102-1104)acG>acT	p.T368T	TFAP2B_ENST00000263046.4_Silent_p.T377T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1129-1131)acG>acT		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							96	101	99					6																	50810826		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810826G>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1104G>T	6.37:g.50810826G>T						TFAP2B_ENST00000393655.3_Silent_p.T368T	p.T377T			Q92481	AP2B_HUMAN			8	1297	+	Lung NSC(77;0.156)		368	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1131G>T	CCDS4934.2																																																																																				0.557	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		37	265	1	0	2.51541e-25	1	2.90913e-25	37	265					T	50810826	G	T	50810826	2	4	412	1	0	0	0	0	0	0	0	1	15785	1103	39	4		4	TFAP2B	6	50810826	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		50810826	120304241	34	35833											
HACE1	57531	broad.mit.edu	37	chr6	105177553	105177553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattatgccattgtgtaaCcatagctgccacaatgtagt	7	9	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:105177553C>T	ENST00000262903.4	-	24	2990	c.2714G>A	c.(2713-2715)gGt>gAt	p.G905D	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.G690D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	905	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATTGTGTAACCATAGCTGCC	0.383																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2713-2715)gGt>gAt		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							126	119	121					6																	105177553		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105177553C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2714G>A	6.37:g.105177553C>T	ENSP00000262903:p.Gly905Asp					HACE1_ENST00000369125.2_Missense_Mutation_p.G690D|HACE1_ENST00000517995.1_5'UTR	p.G905D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	24	2990	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	905			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2714G>A	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.437301|4.437301	0.83885|0.83885	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903;ENST00000369125|ENST00000518503;ENST00000518402	T;T|.	0.62788|.	0.0;0.0|.	5.94|5.94	5.94|5.94	0.96194|0.96194	HECT (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86239|.	0.5885|.	M|M	0.93550|0.93550	3.43|3.43	0.44719|0.44719	D|D	0.997717|0.997717	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|.	D|.	0.88461|.	0.3055|.	10|.	0.66056|.	D|.	0.02|.	.|.	20.4386|20.4386	0.99107|0.99107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	690;394;905;558|.	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3|.	.;.;HACE1_HUMAN;.|.	D|X	905;690|324;295	ENSP00000262903:G905D;ENSP00000358121:G690D|.	ENSP00000262903:G905D|.	G|W	-|-	2|3	0|0	HACE1|HACE1	105284246|105284246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.180000|7.180000	0.77674|0.77674	2.831000|2.831000	0.97527|0.97527	0.644000|0.644000	0.83932|0.83932	GGT|TGG		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		21	180	0	0	0	1	0	21	180					T	105177553	C	T	105177553	3	4	412	1	0	0	0	0	1	0	0	0	6940	507	18	2	19	2	HACE1	6	105177553	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	54366727	105177553	65937514	35	35834											
LAMA2	3908	broad.mit.edu	37	chr6	129781361	129781361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaggctgatgctgtacGtgtgattacattcactggct	12	8	1	3	rs142164767	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:129781361G>A	ENST00000421865.2	+	49	6933	c.6884G>A	c.(6883-6885)cGt>cAt	p.R2295H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2295	Laminin G-like 1. {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)		GATGCTGTACGTGTGATTACA	0.383													G|||	4	0.000798722	0.0	0.0	5008	,	,		20882	0.004		0.0	False		,,,				2504	0.0					ENST00000421865.2																			0				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						c.(6883-6885)cGt>cAt		laminin, alpha 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	145	132	137		6884,6884	4.9	1	6	dbSNP_134	137	0,8600		0,0,4300	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2295/3123,2295/3119	129781361	1,13005	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129781361G>A	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.6884G>A	6.37:g.129781361G>A	ENSP00000400365:p.Arg2295His						p.R2295H	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	49	6933	+			2295			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6884G>A	CCDS5138.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	18.64	3.667755	0.67814	2.27E-4	0.0	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.75050	-0.9	5.78	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.186746	0.53938	N	0.000047	T	0.67970	0.2950	L	0.27053	0.805	0.43069	D	0.9947	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.70139	-0.4954	9	.	.	.	.	10.8733	0.46896	0.1437:0.0:0.8563:0.0	.	2296;2295	A6NF00;P24043	.;LAMA2_HUMAN	H	2295;2294;2295;313	ENSP00000400365:R2295H	.	R	+	2	0	LAMA2	129823054	1.000000	0.71417	0.995000	0.50966	0.826000	0.46750	3.873000	0.56093	1.435000	0.47434	0.650000	0.86243	CGT		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			108	160	0	0	0	1	0	108	160					A	129781361	G	A	129781361	3	1	412	1	0	0	0	0	1	0	0	0	8606	1145	40	1	7078	1	LAMA2	6	129781361	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	24603808	129781361	41333706	36	35835											
RNF216	54476	broad.mit.edu	37	chr7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaagtcatagttgacccGcacgttgggcagagggggca	15	10	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642																																						ENST00000425013.2																		FBXL18/RNF216(2)	1	Substitution - Missense(1)	p.R895W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2512-2514)Cgg>Tgg		ring finger protein 216							102	109	107					7																	5662580		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662580G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp					RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	p.R838W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2736	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2512C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		5	248	0	0	0	1	0	5	248					A	5662580	G	A	5662580	3	1	412	1	0	0	0	0	1	0	0	0	13480	1086	38	1	92	1	RNF216	7	5662580	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		5662580	153476083	37	35836											
POM121L12	285877	broad.mit.edu	37	chr7	53104086	53104086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgaagccgagcctcgGcccctggagcctcagttttt	11	15	2	1	rs539316673		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:53104086G>T	ENST00000408890.4	+	1	738	c.722G>T	c.(721-723)gGc>gTc	p.G241V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGAGCCTCGGCCCCTGGAGC	0.647																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(721-723)gGc>gTc		POM121 transmembrane nucleoporin-like 12							45	53	50					7																	53104086		1974	4140	6114	SO:0001583	missense	285877							g.chr7:53104086G>T		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.722G>T	7.37:g.53104086G>T	ENSP00000386133:p.Gly241Val						p.G241V	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	738	+			241					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.722G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.756	0.508426	0.12883	.	.	ENSG00000221900	ENST00000408890	T	0.11169	2.8	2.03	-1.15	0.09709	.	.	.	.	.	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	1	B	0.31174	0.311	B	0.30646	0.118	T	0.39722	-0.9600	9	0.30854	T	0.27	.	2.1335	0.03755	0.3276:0.0:0.4171:0.2553	.	241	Q8N7R1	P1L12_HUMAN	V	241	ENSP00000386133:G241V	ENSP00000386133:G241V	G	+	2	0	POM121L12	53071580	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.188000	0.09642	-0.323000	0.08602	0.561000	0.74099	GGC		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	100	1	0	4.096e-09	1	4.50221e-09	5	100					T	53104086	G	T	53104086	3	4	412	1	0	0	0	0	1	0	0	0	12241	1203	42	4	724	4	POM121L12	7	53104086	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	47441506	53104086	106034577	38	35837											
ABCB1	5243	broad.mit.edu	37	chr7	87145840	87145840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccggcattaggccttcCgtgctgtagctgtcaatcaa	9	13	3	0	rs138566631	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:87145840C>T	ENST00000265724.3	-	25	3486	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1023					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)	p.T1023T(1)		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)	TTAGGCCTTCCGTGCTGTAGC	0.388																																						ENST00000265724.3																			1	Substitution - coding silent(1)	p.T1023T(1)	lung(1)	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						c.(3067-3069)acG>acA		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C		2,4404	4.2+/-10.8	0,2,2201	193	168	176		3069	-11.9	0	7	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCB1	NM_000927.4		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		1023/1281	87145840	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87145840C>T	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.3069G>A	7.37:g.87145840C>T						ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	p.T1023T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			25	3486	-	Esophageal squamous(14;0.00164)		1023					A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.3069G>A	CCDS5608.1																																																																																				0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		4	181	0	0	0	1	0	4	181					T	87145840	C	T	87145840	2	4	412	1	0	0	0	0	0	0	0	1	40	639	23	1		1	ABCB1	7	87145840	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	34041754	87145840	71992823	39	35838											
MUC17	140453	broad.mit.edu	37	chr7	100685442	100685442	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcattaacaactatgcTcctcagcagcacatatgtga	5	12	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:100685442T>A	ENST00000306151.4	+	3	10809	c.10745T>A	c.(10744-10746)cTc>cAc	p.L3582H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3582	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)					ACAACTATGCTCCTCAGCAGC	0.473																																						ENST00000306151.4																			0				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						c.(10744-10746)cTc>cAc		mucin 17, cell surface associated							181	175	177					7																	100685442		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685442T>A	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.10745T>A	7.37:g.100685442T>A	ENSP00000302716:p.Leu3582His						p.L3582H	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10809	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3582			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10745T>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	5.538	0.284198	0.10513	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	0.782	-0.342	0.12635	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	D	0.70935	0.971	T	0.45175	-0.9279	9	0.38643	T	0.18	.	5.2679	0.15609	0.0:0.5666:0.0:0.4334	.	3582	Q685J3	MUC17_HUMAN	H	3582	ENSP00000302716:L3582H	ENSP00000302716:L3582H	L	+	2	0	MUC17	100472162	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.111000	0.15458	-0.822000	0.04306	-1.026000	0.02426	CTC		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		146	166	0	0	0	1	0	146	166					A	100685442	T	A	100685442	3	1	412	1	0	0	0	0	1	0	0	0	9974	1551	54	5	10755	5	MUC17	7	100685442	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	13539602	100685442	58453221	40	35839											
NAT2	10	broad.mit.edu	37	chr8	18257674	18257674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagttgggcttagaggCtatttttgatcacattgtaa	11	5	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:18257674C>T	ENST00000286479.3	+	2	268	c.161C>T	c.(160-162)gCt>gTt	p.A54V	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	54					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	GGCTTAGAGGCTATTTTTGAT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(160-162)gCt>gTt		N-acetyltransferase 2 (arylamine N-acetyltransferase)							108	113	111					8																	18257674		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257674C>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.161C>T	8.37:g.18257674C>T	ENSP00000286479:p.Ala54Val					NAT2_ENST00000520116.1_Intron	p.A54V	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	268	+			54					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.161C>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.162207	0.00318	.	.	ENSG00000156006	ENST00000286479	T	0.02197	4.4	2.95	-2.89	0.05665	.	0.971478	0.08517	N	0.934061	T	0.01695	0.0054	L	0.45228	1.405	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.49925	-0.8887	10	0.05620	T	0.96	.	3.4529	0.07505	0.4856:0.2898:0.0:0.2246	.	54	A4Z6T7	.	V	54	ENSP00000286479:A54V	ENSP00000286479:A54V	A	+	2	0	NAT2	18301954	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.088000	0.14979	-0.747000	0.04759	0.436000	0.28706	GCT		0.473	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		87	186	0	0	0	1	0	87	186					T	18257674	C	T	18257674	3	4	412	1	0	0	0	0	1	0	0	0	10177	797	28	2	163	2	NAT2	8	18257674	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		18257674	128106348	41	35840											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477389	110477389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgcaaagtttgttgaCgtccagtattctcacacacc	9	10	1	1	rs376156063		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:110477389C>T	ENST00000378402.5	+	49	8432	c.8328C>T	c.(8326-8328)gaC>gaT	p.D2776D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2776					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2778D(2)		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)			AGTTTGTTGACGTCCAGTATT	0.433										HNSCC(38;0.096)																												ENST00000378402.5																			2	Substitution - coding silent(2)	p.D2778D(2)	prostate(1)|kidney(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						c.(8326-8328)gaC>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		C		0,3904		0,0,1952	106	108	108		8328	4	0.2	8		108	1,8275		0,1,4137	no	coding-synonymous	PKHD1L1	NM_177531.4		0,1,6089	TT,TC,CC		0.0121,0.0,0.0082		2776/4244	110477389	1,12179	1952	4138	6090	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477389C>T	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.8328C>T	8.37:g.110477389C>T		HNSCC(38;0.096)					p.D2776D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8432	+			2776					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.8328C>T	CCDS47911.1																																																																																				0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		12	130	0	0	0	1	0	12	130					T	110477389	C	T	110477389	2	4	412	1	0	0	0	0	0	0	0	1	11972	535	19	1		1	PKHD1L1	8	110477389	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	92219715	110477389	35886633	42	35841											
ZFAT	57623	broad.mit.edu	37	chr8	135596191	135596191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgattcatatgagccttgAggttactcttgctacgagtt	10	8	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:135596191A>C	ENST00000377838.3	-	10	2945	c.2771T>G	c.(2770-2772)cTc>cGc	p.L924R	ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.L912R|ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	924					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)			ATGAGCCTTGAGGTTACTCTT	0.403																																						ENST00000520727.1																			0				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						c.(2734-2736)cTc>cGc		zinc finger and AT hook domain containing							111	97	101					8																	135596191		1924	4141	6065	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135596191A>C	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.2771T>G	8.37:g.135596191A>C	ENSP00000367069:p.Leu924Arg					ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R|ZFAT_ENST00000377838.3_Missense_Mutation_p.L924R|ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000517307.1_5'UTR	p.L912R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		11	3034	-	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)		924					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2735T>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838741	0.91117	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.46386	0.1390	M	0.84219	2.685	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	T	0.51639	-0.8680	10	0.87932	D	0	-28.9335	15.1066	0.72326	1.0:0.0:0.0:0.0	.	862;912;924	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	R	912;912;912;924;912;811;862	ENSP00000427879:L912R;ENSP00000427831:L912R;ENSP00000394501:L912R;ENSP00000367069:L924R;ENSP00000428483:L912R;ENSP00000429091:L862R	ENSP00000326997:L811R	L	-	2	0	ZFAT	135665373	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.207000	0.95064	2.156000	0.67533	0.460000	0.39030	CTC		0.403	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	15	0	0	0	1	0	5	15					C	135596191	A	C	135596191	3	2	412	1	0	0	0	0	1	0	0	0	17629	304	11	5	988	5	ZFAT	8	135596191	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	25118802	135596191	10767831	43	35842											
SLC39A4	55630	broad.mit.edu	37	chr8	145638211	145638211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatccaggcctcgctctcctCgctgactccaaccgcgagtg	10	17	1	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:145638211C>T	ENST00000301305.3	-	11	1852	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	SLC39A4_ENST00000276833.5_Missense_Mutation_p.E558K|SLC39A4_ENST00000531013.1_5'UTR|GS1-393G12.14_ENST00000607491.1_RNA	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	583					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|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(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCGCTCTCCTCGCTGACTCCA	0.677																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1672-1674)Gag>Aag		solute carrier family 39 (zinc transporter), member 4							33	36	35					8																	145638211		2203	4300	6503	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638211C>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1747G>A	8.37:g.145638211C>T	ENSP00000301305:p.Glu583Lys					SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.E583K	p.E558K	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		10	1975	-	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)		583					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.1672G>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650368	0.47362	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.50813	0.73;0.73	4.09	4.09	0.47781	.	0.450893	0.22498	N	0.059277	T	0.53465	0.1798	M	0.79011	2.435	0.41375	D	0.987511	P;P;P	0.51351	0.919;0.699;0.944	B;B;P	0.46208	0.202;0.108;0.507	T	0.57625	-0.7779	10	0.27785	T	0.31	-12.7152	14.2031	0.65716	0.0:1.0:0.0:0.0	.	583;558;583	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	K	558;583	ENSP00000276833:E558K;ENSP00000301305:E583K	ENSP00000276833:E558K	E	-	1	0	SLC39A4	145609019	0.019000	0.18553	0.818000	0.32626	0.909000	0.53808	1.167000	0.31847	2.003000	0.58678	0.456000	0.33151	GAG		0.677	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			19	32	0	0	0	1	0	19	32					T	145638211	C	T	145638211	3	4	412	1	0	0	0	0	1	0	0	0	14620	893	31	1	204	1	SLC39A4	8	145638211	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	10042020	145638211	725811	44	35843											
AQP7	364	broad.mit.edu	37	chr9	33387018	33387018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactccgaagccaaaacCcaagttgacaccaaggtagc	10	12	0	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:33387018C>T	ENST00000539936.1	-	4	455	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S			O14520	AQP7_HUMAN	aquaporin 7	73					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AAGCCAAAACCCAAGTTGACA	0.577																																						ENST00000539936.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(217-219)Ggt>Agt		aquaporin 7							100	97	98					9																	33387018		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33387018C>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.217G>A	9.37:g.33387018C>T	ENSP00000439534:p.Gly73Ser					AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S	p.G73S			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	4	455	-			73					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.217G>A		.	.	.	.	.	.	.	.	.	.	c	20.5	3.996722	0.74818	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000377425;ENST00000379506;ENST00000539936	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	3.41	2.5	0.30297	Aquaporin-like (2);	0.263527	0.37095	N	0.002260	D	0.84897	0.5574	M	0.62266	1.93	0.80722	D	1	P;B;P;P	0.46621	0.806;0.422;0.881;0.806	P;B;P;P	0.52554	0.702;0.394;0.702;0.639	T	0.82261	-0.0545	10	0.56958	D	0.05	-1.9028	4.2407	0.10647	0.226:0.6515:0.0:0.1225	.	72;73;16;73	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	S	72;73;16;72;73	ENSP00000368821:G72S;ENSP00000297988:G73S;ENSP00000396111:G16S;ENSP00000368820:G72S;ENSP00000439534:G73S	ENSP00000297988:G73S	G	-	1	0	AQP7	33377018	0.914000	0.31030	1.000000	0.80357	0.956000	0.61745	3.260000	0.51523	0.789000	0.33779	0.645000	0.84053	GGT		0.577	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		26	158	0	0	0	1	0	26	158					T	33387018	C	T	33387018	3	4	412	1	0	0	0	0	1	0	0	0	831	623	22	2	831	2	AQP7	9	33387018	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		33387018	107826413	45	35844											
GRIN3A	116443	broad.mit.edu	37	chr9	104433268	104433268	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaagcgggtccacattgGctttcccatggggtcatgtt	12	12	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:104433268G>T	ENST00000361820.3	-	3	2026	c.1426C>A	c.(1426-1428)Cca>Aca	p.P476T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	476					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTCCACATTGGCTTTCCCATG	0.507																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1426-1428)Cca>Aca		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						155	158	157					9																	104433268		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433268G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1426C>A	9.37:g.104433268G>T	ENSP00000355155:p.Pro476Thr						p.P476T	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2026	-		Acute lymphoblastic leukemia(62;0.0568)	476					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1426C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461815	0.63513	.	.	ENSG00000198785	ENST00000361820	D	0.86230	-2.09	5.76	5.76	0.90799	.	0.064320	0.64402	D	0.000007	D	0.91985	0.7461	M	0.81341	2.54	0.80722	D	1	P	0.37176	0.586	P	0.47786	0.557	D	0.90952	0.4806	10	0.51188	T	0.08	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	476	Q8TCU5	NMD3A_HUMAN	T	476	ENSP00000355155:P476T	ENSP00000355155:P476T	P	-	1	0	GRIN3A	103473089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.772000	0.98984	2.882000	0.98803	0.655000	0.94253	CCA		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	321	1	0	1.77063e-15	1	1.99571e-15	26	321					T	104433268	G	T	104433268	3	4	412	1	0	0	0	0	1	0	0	0	6783	1203	42	4	1949	4	GRIN3A	9	104433268	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	71046250	104433268	36780163	46	35845											
HSPA14	51182	broad.mit.edu	37	chr10	14891775	14891775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagttattactgtcccGtttgattttggagaaaagca	10	5	0	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:14891775G>A	ENST00000378372.3	+	6	671	c.432G>A	c.(430-432)ccG>ccA	p.P144P		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	144					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTACTGTCCCGTTTGATTTTG	0.323																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(430-432)ccG>ccA		heat shock 70kDa protein 14							105	110	108					10																	14891775		2203	4300	6503	SO:0001819	synonymous_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14891775G>A	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.432G>A	10.37:g.14891775G>A							p.P144P	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			6	671	+			144					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	c.432G>A	CCDS7103.1																																																																																				0.323	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		52	84	0	0	0	1	0	52	84					A	14891775	G	A	14891775	2	1	412	1	0	0	0	0	0	0	0	1	7407	1132	40	1		1	HSPA14	10	14891775	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		14891775	120642972	47	35846											
FAM171A1	221061	broad.mit.edu	37	chr10	15254949	15254949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgccatcaggggcctctcctCccgtttctgccaggggcttt	11	16	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:15254949C>G	ENST00000378116.4	-	8	2644	c.2638G>C	c.(2638-2640)Gag>Cag	p.E880Q	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	880						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						GGCCTCTCCTCCCGTTTCTGC	0.507																																						ENST00000378116.4																			0				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						c.(2638-2640)Gag>Cag		family with sequence similarity 171, member A1							130	128	129					10																	15254949		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15254949C>G	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.2638G>C	10.37:g.15254949C>G	ENSP00000367356:p.Glu880Gln						p.E880Q	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2644	-			880					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2638G>C	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810706	0.70797	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.55760	0.5	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78881	-0.2029	10	0.87932	D	0	-34.1872	18.5102	0.90913	0.0:1.0:0.0:0.0	.	880	Q5VUB5	F1711_HUMAN	Q	880;879	ENSP00000367356:E880Q	ENSP00000367356:E880Q	E	-	1	0	FAM171A1	15294955	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	5.909000	0.69923	2.597000	0.87782	0.563000	0.77884	GAG		0.507	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		19	244	0	0	0	1	0	19	244					G	15254949	C	G	15254949	3	3	412	1	0	0	0	0	1	0	0	0	5490	864	30	4	38	4	FAM171A1	10	15254949	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	363174	15254949	120279798	48	35847											
YME1L1	10730	broad.mit.edu	37	chr10	27410369	27410369	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttatgataactccttcattgGgtttaaaactatattggaaa	6	5	1	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:27410369G>C	ENST00000326799.3	-	13	1563	c.1415C>G	c.(1414-1416)cCc>cGc	p.P472R	YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R|YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	472					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTTCATTGGGTTTAAAACT	0.318																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1414-1416)cCc>cGc		YME1-like 1 ATPase							123	135	131					10																	27410369		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27410369G>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1415C>G	10.37:g.27410369G>C	ENSP00000318480:p.Pro472Arg					YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R|YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R	p.P472R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			13	1563	-			472					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1415C>G	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693693	0.30052	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.92446	-3.04;-3.04;-3.04	5.97	5.06	0.68205	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.105878	0.64402	D	0.000003	D	0.92580	0.7643	N	0.16903	0.455	0.80722	D	1	D;P;B	0.89917	1.0;0.93;0.004	D;P;B	0.91635	0.999;0.563;0.016	D	0.93979	0.7256	10	0.59425	D	0.04	-7.1341	17.2564	0.87057	0.0:0.1257:0.8743:0.0	.	382;415;472	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	R	415;472;472;382;218	ENSP00000365184:P415R;ENSP00000318480:P472R;ENSP00000365139:P382R	ENSP00000318480:P472R	P	-	2	0	YME1L1	27450375	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	7.581000	0.82535	1.517000	0.48917	-0.176000	0.13171	CCC		0.318	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		19	247	0	0	0	1	0	19	247					C	27410369	G	C	27410369	3	2	412	1	0	0	0	0	1	0	0	0	17484	1232	43	4	938	4	YME1L1	10	27410369	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	12155420	27410369	108124378	49	35848											
LRRC56	115399	broad.mit.edu	37	chr11	550110	550110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaacatctcggacctgagCccactgtgcctgctggaaca	9	14	1	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:550110C>A	ENST00000270115.7	+	8	962	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	154										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)		CGGACCTGAGCCCACTGTGCC	0.677																																						ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(460-462)agC>agA		leucine rich repeat containing 56							113	107	109					11																	550110		2203	4300	6503	SO:0001583	missense	115399							g.chr11:550110C>A		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.462C>A	11.37:g.550110C>A	ENSP00000270115:p.Ser154Arg						p.S154R	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		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)	8	962	+		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)	154					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.462C>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649679	0.67358	.	.	ENSG00000161328	ENST00000270115	T	0.12465	2.68	5.1	5.1	0.69264	.	0.043544	0.85682	D	0.000000	T	0.37812	0.1017	M	0.82323	2.585	0.42758	D	0.99379	D	0.89917	1.0	D	0.97110	1.0	T	0.27640	-1.0068	10	0.87932	D	0	-22.0665	9.6112	0.39663	0.0:0.9035:0.0:0.0965	.	154	Q8IYG6	LRC56_HUMAN	R	154	ENSP00000270115:S154R	ENSP00000270115:S154R	S	+	3	2	LRRC56	540110	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.270000	0.33086	2.373000	0.80994	0.491000	0.48974	AGC		0.677	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		13	116	1	0	3.27435e-08	1	3.48391e-08	13	116					A	550110	C	A	550110	3	1	412	1	0	0	0	0	1	0	0	0	9012	738	26	4	480	4	LRRC56	11	550110	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		550110	134456406	50	35849											
OR52E6	390078	broad.mit.edu	37	chr11	5862807	5862807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccatgacagtgaagaaAtggatgaagaacatctgaga	10	7	2	6	rs370082903		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:5862807A>C	ENST00000329322.5	-	1	320	c.321T>G	c.(319-321)caT>caG	p.H107Q	OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	107						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(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAAGAAATGGATGAAGA	0.463																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(319-321)caT>caG		olfactory receptor, family 52, subfamily E, member 6							169	163	165					11																	5862807		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862807A>C	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.321T>G	11.37:g.5862807A>C	ENSP00000328878:p.His107Gln					TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q	p.H107Q	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	320	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	107					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.321T>G	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279464	0.40294	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00547	6.66;6.66	3.55	-0.74	0.11115	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.02304	0.0071	M	0.92970	3.365	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.11518	-1.0584	10	0.87932	D	0	.	8.322	0.32134	0.6377:0.0:0.3623:0.0	.	107	Q96RD3	O52E6_HUMAN	Q	107;111	ENSP00000328878:H107Q;ENSP00000369279:H111Q	ENSP00000328878:H107Q	H	-	3	2	OR52E6	5819383	0.000000	0.05858	0.048000	0.18961	0.880000	0.50808	-0.907000	0.04067	-0.076000	0.12775	-0.490000	0.04691	CAT		0.463	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		31	344	0	0	0	1	0	31	344					C	5862807	A	C	5862807	3	2	412	1	0	0	0	0	1	0	0	0	11117	98	4	5	622	5	OR52E6	11	5862807	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	5312697	5862807	129143709	51	35850											
OR2AG2	338755	broad.mit.edu	37	chr11	6789589	6789589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagtcacacctgtcacGtatattataagctcatacct	6	10	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200						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)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(598-600)taC>taT		olfactory receptor, family 2, subfamily AG, member 2							95	86	89					11																	6789589		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789589G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.600C>T	11.37:g.6789589G>A							p.Y200Y	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	697	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	200						Silent	SNP	ENST00000338569.2	37	c.600C>T	CCDS31413.1																																																																																				0.493	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		7	52	0	0	0	1	0	7	52					A	6789589	G	A	6789589	2	1	412	1	0	0	0	0	0	0	0	1	10985	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	926782	6789589	128216927	52	35851											
OR4C11	219429	broad.mit.edu	37	chr11	55371229	55371229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatcaaaatcatgaaactActtgagcaaattgccccact	4	10	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55371229A>G	ENST00000302231.4	-	1	645	c.621T>C	c.(619-621)agT>agC	p.S207S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	207						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(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCATGAAACTACTTGAGCAAA	0.423																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(619-621)agT>agC		olfactory receptor, family 4, subfamily C, member 11							85	72	77					11																	55371229		2178	4006	6184	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371229A>G	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.621T>C	11.37:g.55371229A>G							p.S207S	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	645	-			207					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.621T>C	CCDS31503.1																																																																																				0.423	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		93	25	0	0	0	1	0	93	25					G	55371229	A	G	55371229	2	3	412	1	0	0	0	0	0	0	0	1	11045	388	14	3		3	OR4C11	11	55371229	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	48581640	55371229	79635287	53	35852											
OR4S2	219431	broad.mit.edu	37	chr11	55419188	55419188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggataagatggtggCtgtattttacaccattatca	9	6	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55419188C>T	ENST00000312422.2	+	1	809	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	270						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(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGATGGTGGCTGTATTTTAC	0.423																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(808-810)gCt>gTt		olfactory receptor, family 4, subfamily S, member 2							163	146	152					11																	55419188		2181	4033	6214	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419188C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.809C>T	11.37:g.55419188C>T	ENSP00000310337:p.Ala270Val						p.A270V	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	809	+		all_epithelial(135;0.0748)	270					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.809C>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076755	0.55753	.	.	ENSG00000174982	ENST00000312422	T	0.00202	8.56	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.00440	0.0014	M	0.89658	3.05	0.24894	N	0.99214	B	0.28258	0.205	B	0.37650	0.255	T	0.12091	-1.0561	10	0.72032	D	0.01	.	14.1939	0.65656	0.0:0.8492:0.1508:0.0	.	270	Q8NH73	OR4S2_HUMAN	V	270	ENSP00000310337:A270V	ENSP00000310337:A270V	A	+	2	0	OR4S2	55175764	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	1.242000	0.32755	2.508000	0.84585	0.542000	0.68232	GCT		0.423	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		41	165	0	0	0	1	0	41	165					T	55419188	C	T	55419188	3	4	412	1	0	0	0	0	1	0	0	0	11083	797	28	2	811	2	OR4S2	11	55419188	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	47959	55419188	79587328	54	35853											
OR8K3	219473	broad.mit.edu	37	chr11	56085997	56085997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggctttcatggatcttgGttattcaacaactgtgggac	10	8	4	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:56085997G>A	ENST00000312711.1	+	1	215	c.215G>A	c.(214-216)gGt>gAt	p.G72D		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	72						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)					ATGGATCTTGGTTATTCAACA	0.378																																						ENST00000312711.1																			0				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						c.(214-216)gGt>gAt		olfactory receptor, family 8, subfamily K, member 3							147	150	149					11																	56085997		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085997G>A	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	ENST00000312711.1:c.215G>A	11.37:g.56085997G>A	ENSP00000323555:p.Gly72Asp						p.G72D	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	215	+	Esophageal squamous(21;0.00448)		72					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.215G>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326825	0.41197	.	.	ENSG00000181689	ENST00000312711	T	0.00433	7.43	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.01489	0.0048	M	0.89968	3.075	0.35337	D	0.786112	D	0.71674	0.998	D	0.68765	0.96	T	0.50083	-0.8869	10	0.59425	D	0.04	.	15.2021	0.73147	0.0:0.0:1.0:0.0	.	72	Q8NH51	OR8K3_HUMAN	D	72	ENSP00000323555:G72D	ENSP00000323555:G72D	G	+	2	0	OR8K3	55842573	0.431000	0.25546	0.998000	0.56505	0.066000	0.16364	3.891000	0.56227	2.565000	0.86533	0.637000	0.83480	GGT		0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		126	203	0	0	0	1	0	126	203					A	56085997	G	A	56085997	3	1	412	1	0	0	0	0	1	0	0	0	11244	1261	44	2	217	2	OR8K3	11	56085997	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	666809	56085997	78920519	55	35854											
C11orf80	79703	broad.mit.edu	37	chr11	66555677	66555677	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaagctgacttggacTtcagaggaaggcagctattc	11	9	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:66555677T>G	ENST00000360962.4	+	5	577	c.570T>G	c.(568-570)acT>acG	p.T190T	C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000540737.1_Silent_p.T24T|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000527634.1_Intron	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	190										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGACTTGGACTTCAGAGGAAG	0.418																																						ENST00000360962.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(568-570)acT>acG		chromosome 11 open reading frame 80							98	93	95					11																	66555677		1888	4114	6002	SO:0001819	synonymous_variant	79703							g.chr11:66555677T>G			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.570T>G	11.37:g.66555677T>G						C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000540737.1_Silent_p.T24T|C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000527634.1_Intron	p.T190T	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN			5	577	+			35					Q9H677	Silent	SNP	ENST00000360962.4	37	c.570T>G	CCDS53664.1	.	.	.	.	.	.	.	.	.	.	T	0.324	-0.960410	0.02267	.	.	ENSG00000173715	ENST00000532089	.	.	.	5.38	4.24	0.50183	.	.	.	.	.	T	0.59838	0.2223	.	.	.	0.44323	D	0.997202	.	.	.	.	.	.	T	0.55749	-0.8092	4	.	.	.	.	9.4236	0.38565	0.0:0.0:0.1793:0.8207	.	.	.	.	R	16	.	.	L	+	2	0	C11orf80	66312253	0.997000	0.39634	0.064000	0.19789	0.153000	0.21895	0.717000	0.25851	0.866000	0.35629	0.533000	0.62120	CTT		0.418	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		13	107	0	0	0	1	0	13	107					G	66555677	T	G	66555677	2	3	412	1	0	0	0	0	0	0	0	1	1664	1596	56	5		5	C11orf80	11	66555677	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	10469680	66555677	68450839	56	35855											
NEU3	10825	broad.mit.edu	37	chr11	74716640	74716640	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcctttgcttcatctaCagtcaggatgctggatgttc	10	12	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:74716640C>G	ENST00000544263.1	+	4	560	c.390C>G	c.(388-390)taC>taG	p.Y130*	NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000294064.4_Nonsense_Mutation_p.Y163*|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E|NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	130					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCTTCATCTACAGTCAGGATG	0.547																																						ENST00000294064.4																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(487-489)taC>taG		sialidase 3 (membrane sialidase)							135	136	136					11																	74716640		2100	4213	6313	SO:0001587	stop_gained	10825							g.chr11:74716640C>G	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.390C>G	11.37:g.74716640C>G	ENSP00000445591:p.Tyr130*					NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000544263.1_Nonsense_Mutation_p.Y130*	p.Y163*	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN			3	1416	+			163					A8K327|Q9NQE1	Nonsense_Mutation	SNP	ENST00000544263.1	37	c.489C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750014|3.750014	0.69533|0.69533	.|.	.|.	ENSG00000162139|ENSG00000162139	ENST00000529024;ENST00000532963|ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	.|.	.|.	.|.	5.14|5.14	0.0488|0.0488	0.14286|0.14286	.|.	.|0.401164	.|0.29093	.|N	.|0.013164	T|.	0.28134|.	0.0694|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20672|.	-1.0268|.	5|.	0.87932|0.02654	D|T	0|1	-2.8652|-2.8652	9.3065|9.3065	0.37878|0.37878	0.0:0.6114:0.0:0.3886|0.0:0.6114:0.0:0.3886	.|.	.|.	.|.	.|.	E|X	93|163;163;130;54	.|.	ENSP00000434474:Q93E|ENSP00000294064:Y163X	Q|Y	+|+	1|3	0|2	NEU3|NEU3	74394288|74394288	0.000000|0.000000	0.05858|0.05858	0.984000|0.984000	0.44739|0.44739	0.948000|0.948000	0.59901|0.59901	-0.163000|-0.163000	0.09997|0.09997	0.083000|0.083000	0.17047|0.17047	-0.794000|-0.794000	0.03295|0.03295	CAG|TAC		0.547	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656		63	108	0	0	0	1	0	63	108					G	74716640	C	G	74716640	4	3	412	1	0	0	0	0	0	1	0	0	10343	489	17	4	499	4	NEU3	11	74716640	Nonsense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	8160963	74716640	60289876	57	35856											
THRSP	7069	broad.mit.edu	37	chr11	77775098	77775098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggcccctgatctctaCacctacttcaccatgctcaa	6	16	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:77775098C>T	ENST00000281030.2	+	1	192	c.171C>T	c.(169-171)taC>taT	p.Y57Y	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	57					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTGATCTCTACACCTACTTCA	0.632																																						ENST00000281030.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(169-171)taC>taT		thyroid hormone responsive							92	92	92					11																	77775098		2200	4292	6492	SO:0001819	synonymous_variant	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775098C>T	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"SPOT14 homolog (rat)"	601926	"thyroid hormone responsive SPOT14 (rat) homolog", "lipogenic protein 1"	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.171C>T	11.37:g.77775098C>T						NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	p.Y57Y	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	192	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		57					B2R4W7	Silent	SNP	ENST00000281030.2	37	c.171C>T	CCDS8256.1																																																																																				0.632	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		6	196	0	0	0	1	0	6	196					T	77775098	C	T	77775098	2	4	412	1	0	0	0	0	0	0	0	1	15873	489	17	2		2	THRSP	11	77775098	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	3058458	77775098	57231418	58	35857											
KCNJ5	3762	broad.mit.edu	37	chr11	128781870	128781870	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatcgtggaggcctccatCcgggccaagctcatcaagtc	10	15	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:128781870C>A	ENST00000338350.4	+	3	1054	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000529694.1_Silent_p.I234I			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	234					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGGCCTCCATCCGGGCCAAGC	0.607																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(700-702)atC>atA		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						81	85	84					11																	128781870		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781870C>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.702C>A	11.37:g.128781870C>A						KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000338350.4_Silent_p.I234I	p.I234I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1078	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	234					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.702C>A	CCDS8479.1																																																																																				0.607	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		6	164	1	0	0.00116845	1	0.00119541	6	164					A	128781870	C	A	128781870	2	1	412	1	0	0	0	0	0	0	0	1	8054	845	30	4		4	KCNJ5	11	128781870	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	51006772	128781870	6224646	59	35858											
AAAS	8086	broad.mit.edu	37	chr12	53703027	53703027	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accccacctcctcggaaccaGggaagggggacacaggtctc	12	15	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:53703027G>C	ENST00000209873.4	-	9	1014	c.849C>G	c.(847-849)ccC>ccG	p.P283P	AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	283					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						CTCGGAACCAGGGAAGGGGGA	0.572																																						ENST00000209873.4																			0				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						c.(847-849)ccC>ccG		achalasia, adrenocortical insufficiency, alacrimia							84	81	82					12																	53703027		2203	4300	6503	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53703027G>C	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.849C>G	12.37:g.53703027G>C						AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P	p.P283P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			9	1014	-			283					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.849C>G	CCDS8856.1																																																																																				0.572	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			13	170	0	0	0	1	0	13	170					C	53703027	G	C	53703027	2	2	412	1	0	0	0	0	0	0	0	1	8	987	35	4		4	AAAS	12	53703027	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		53703027	80148868	60	35859											
MYBPC1	4604	broad.mit.edu	37	chr12	102056150	102056150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatattttattgagAggaagaagaaacaaagctcc	10	6	0	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:102056150A>G	ENST00000550270.1	+	19	1972	c.1972A>G	c.(1972-1974)Agg>Ggg	p.R658G	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R671G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	658	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTTTATTGAGAGGAAGAAGAA	0.363																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2011-2013)Agg>Ggg		myosin binding protein C, slow type							61	61	61					12																	102056150		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102056150A>G		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1972A>G	12.37:g.102056150A>G	ENSP00000449702:p.Arg658Gly					MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G	p.R671G			Q00872	MYPC1_HUMAN			20	2111	+			658			Fibronectin type-III 1.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2011A>G	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586189	0.66105	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.86	4.69	0.59074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.75162	0.3812	M	0.87758	2.905	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.996;0.999;1.0;0.995;0.996;0.998;0.995	D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.997;0.997;0.995;0.995;0.998;0.998;0.996	T	0.79626	-0.1725	10	0.87932	D	0	.	13.2993	0.60315	0.8678:0.1322:0.0:0.0	.	639;646;658;658;645;632;658;658;683;683	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	G	632;658;658;658;645;644;683;671;658;683;658;639;646;683;559;658	ENSP00000448175:R632G;ENSP00000400908:R658G;ENSP00000388989:R658G;ENSP00000353822:R658G;ENSP00000376665:R645G;ENSP00000447362:R644G;ENSP00000354845:R683G;ENSP00000447660:R671G;ENSP00000447900:R658G;ENSP00000440034:R658G;ENSP00000446128:R639G;ENSP00000442847:R646G;ENSP00000354849:R683G;ENSP00000447116:R559G;ENSP00000449702:R658G	ENSP00000353822:R658G	R	+	1	2	MYBPC1	100580281	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.703000	0.68340	1.116000	0.41820	0.528000	0.53228	AGG		0.363	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			12	77	0	0	0	1	0	12	77					G	102056150	A	G	102056150	3	3	412	1	0	0	0	0	1	0	0	0	10011	295	11	3	2129	3	MYBPC1	12	102056150	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	48353123	102056150	31795745	61	35860											
ACACB	32	broad.mit.edu	37	chr12	109610081	109610081	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctttctgtgtttgcaggCggtgtgggctggctggggcc	17	11	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:109610081C>T	ENST00000338432.7	+	6	1156	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	ACACB_ENST00000377854.5_Splice_Site_p.A346V|ACACB_ENST00000377848.3_Splice_Site_p.A346V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	346	Biotin carboxylation.				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)	TGTTTGCAGGCGGTGTGGGCT	0.532																																						ENST00000338432.7																			0				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						c.e6-1		acetyl-CoA carboxylase beta	Biotin(DB00121)						209	230	223					12																	109610081		2203	4300	6503	SO:0001630	splice_region_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109610081C>T	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.1036-1C>T	12.37:g.109610081C>T						ACACB_ENST00000377848.3_Splice_Site_p.A346_splice|ACACB_ENST00000377854.5_Splice_Site_p.A346_splice	p.A346_splice			O00763	ACACB_HUMAN			6	1156	+			346			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	ENST00000338432.7	37	c.1035_splice	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571913	0.96553	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.95918	-3.85;-3.85;-3.85	5.23	5.23	0.72850	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.047186	0.85682	D	0.000000	D	0.97626	0.9222	H	0.98833	4.345	0.80722	D	1	B	0.32939	0.391	B	0.34824	0.19	D	0.98278	1.0507	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	346	O00763	ACACB_HUMAN	V	346	ENSP00000341044:A346V;ENSP00000367079:A346V;ENSP00000367085:A346V	ENSP00000341044:A346V	A	+	2	0	ACACB	108094464	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	GCG		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	Missense_Mutation	188	351	0	0	0	1	0	188	351					T	109610081	C	T	109610081	5	4	412	1	0	0	0	0	0	0	1	0	107	782	27	1	1055	1	ACACB	12	109610081	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	7553931	109610081	24241814	62	35861											
HVCN1	84329	broad.mit.edu	37	chr12	111099001	111099001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgaacagtttcctcaAcatgcccctgaagtcaaggg	11	11	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:111099001A>G	ENST00000356742.5	-	3	1027	c.274T>C	c.(274-276)Ttg>Ctg	p.L92L	HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000242607.8_Silent_p.L92L|HVCN1_ENST00000439744.2_Silent_p.L72L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	92					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGTTTCCTCAACATGCCCCTG	0.652																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(274-276)Ttg>Ctg		hydrogen voltage-gated channel 1							51	58	55					12																	111099001		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099001A>G	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.274T>C	12.37:g.111099001A>G						HVCN1_ENST00000439744.2_Silent_p.L72L|HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000242607.8_Silent_p.L92L	p.L92L			Q96D96	HVCN1_HUMAN			3	1027	-			92					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.274T>C	CCDS31900.1																																																																																				0.652	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		46	99	0	0	0	1	0	46	99					G	111099001	A	G	111099001	2	3	412	1	0	0	0	0	0	0	0	1	7462	40	2	3		3	HVCN1	12	111099001	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	1488920	111099001	22752894	63	35862											
DNAH10	196385	broad.mit.edu	37	chr12	124325908	124325908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cactgaggtttaatgacggcGatagtggagaaaaactggtg	14	5	0	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:124325908G>T	ENST00000409039.3	+	29	4847	c.4822G>T	c.(4822-4824)Gat>Tat	p.D1608Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1608	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)			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)		TAATGACGGCGATAGTGGAGA	0.517																																						ENST00000409039.3																			0				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						c.(4822-4824)Gat>Tat		dynein, axonemal, heavy chain 10							231	229	229					12																	124325908		2026	4183	6209	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325908G>T	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.4822G>T	12.37:g.124325908G>T	ENSP00000386770:p.Asp1608Tyr						p.D1608Y	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4847	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1608			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4822G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095883	0.20552	.	.	ENSG00000197653	ENST00000409039	T	0.61980	0.06	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.471022	0.21676	U	0.070798	T	0.73055	0.3538	M	0.72894	2.215	0.18873	N	0.999985	P	0.48834	0.916	P	0.51297	0.665	T	0.68655	-0.5351	10	0.62326	D	0.03	.	18.7853	0.91952	0.0:0.0:1.0:0.0	.	1608	Q8IVF4	DYH10_HUMAN	Y	1608	ENSP00000386770:D1608Y	ENSP00000386770:D1608Y	D	+	1	0	DNAH10	122891861	0.996000	0.38824	0.754000	0.31244	0.011000	0.07611	4.861000	0.62969	2.457000	0.83068	0.561000	0.74099	GAT		0.517	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			124	212	1	0	6.58568e-60	1	7.8205e-60	124	212					T	124325908	G	T	124325908	3	4	412	1	0	0	0	0	1	0	0	0	4598	1058	37	4	4936	4	DNAH10	12	124325908	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	13226907	124325908	9525987	64	35863											
RXFP2	122042	broad.mit.edu	37	chr13	32352678	32352678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taataactacttagaagctcTtcccaagcagatgtgtgccc	7	11	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:32352678T>C	ENST00000298386.2	+	9	814	c.743T>C	c.(742-744)cTt>cCt	p.L248P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	248					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTAGAAGCTCTTCCCAAGCAG	0.318																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(742-744)cTt>cCt		relaxin/insulin-like family peptide receptor 2							121	128	126					13																	32352678		2203	4299	6502	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32352678T>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.743T>C	13.37:g.32352678T>C	ENSP00000298386:p.Leu248Pro					RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	9	814	+		Lung SC(185;0.0262)	248					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.743T>C	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635389	0.67130	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04970	4.05;3.52	5.49	5.49	0.81192	.	0.187430	0.47852	D	0.000206	T	0.34308	0.0893	H	0.95745	3.715	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.70935	0.971;0.947	T	0.47032	-0.9148	10	0.87932	D	0	.	11.9885	0.53161	0.0:0.0:0.0:1.0	.	248;248	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	P	248	ENSP00000369670:L248P;ENSP00000298386:L248P	ENSP00000298386:L248P	L	+	2	0	RXFP2	31250678	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.035000	0.57297	2.085000	0.62840	0.533000	0.62120	CTT		0.318	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		5	238	0	0	0	1	0	5	238					C	32352678	T	C	32352678	3	2	412	1	0	0	0	0	1	0	0	0	13760	1609	56	3	777	3	RXFP2	13	32352678	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		32352678	82817200	65	35864											
LMO7	4008	broad.mit.edu	37	chr13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggatgatctttatgtgcGcaagctcagtccagtcatgc	10	9	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:76379755G>A	ENST00000321797.8	+	7	1077	c.356G>A	c.(355-357)cGc>cAc	p.R119H	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.R404H			Q8WWI1	LMO7_HUMAN	LIM domain 7	404	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CTTTATGTGCGCAAGCTCAGT	0.413																																						ENST00000357063.3																			0				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						c.(1210-1212)cGc>cAc		LIM domain 7							322	289	299					13																	76379755		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379755G>A	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	ENST00000321797.8:c.356G>A	13.37:g.76379755G>A	ENSP00000317802:p.Arg119His					LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H	p.R404H			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2471	+		Breast(118;0.0992)	404					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1211G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668026	0.88348	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.78763	-0.2077	10	0.87932	D	0	-11.2894	20.3363	0.98740	0.0:0.0:1.0:0.0	.	119	E9PLH4	.	H	404;404;119;119;119	ENSP00000349571:R404H;ENSP00000366757:R404H;ENSP00000317802:R119H;ENSP00000433352:R119H;ENSP00000432269:R119H	ENSP00000317802:R119H	R	+	2	0	LMO7	75277756	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	8.765000	0.91724	2.814000	0.96858	0.563000	0.77884	CGC		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	406	0	0	0	1	0	5	406					A	76379755	G	A	76379755	3	1	412	1	0	0	0	0	1	0	0	0	8855	1087	38	1	1249	1	LMO7	13	76379755	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	44027077	76379755	38790123	66	35865											
RNASE3	6037	broad.mit.edu	37	chr14	21360166	21360166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtagattccgggtgcctttActccactgtgacctcataaa	8	11	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr14:21360166A>T	ENST00000304639.3	+	2	379	c.321A>T	c.(319-321)ttA>ttT	p.L107F		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	107					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGGTGCCTTTACTCCACTGTG	0.428																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(319-321)ttA>ttT		ribonuclease, RNase A family, 3	Pranlukast(DB01411)						97	100	99					14																	21360166		2191	4300	6491	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360166A>T	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"Ribonucleases, RNase A"	10046	protein-coding gene	gene with protein product	"eosinophil cationic protein"	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.321A>T	14.37:g.21360166A>T	ENSP00000302324:p.Leu107Phe						p.L107F	NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	379	+	all_cancers(95;0.00453)		107					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.321A>T	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	a	9.182	1.023908	0.19433	.	.	ENSG00000169397	ENST00000304639	T	0.75154	-0.91	2.38	-2.93	0.05598	Ribonuclease A, domain (4);	1.109740	0.07205	N	0.858178	T	0.71953	0.3401	M	0.82323	2.585	0.09310	N	1	B	0.32653	0.379	B	0.34180	0.177	T	0.62803	-0.6777	10	0.66056	D	0.02	.	3.9122	0.09209	0.3833:0.2139:0.4028:0.0	.	107	P12724	ECP_HUMAN	F	107	ENSP00000302324:L107F	ENSP00000302324:L107F	L	+	3	2	RNASE3	20430006	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.248000	0.08854	-0.741000	0.04797	-0.437000	0.05841	TTA		0.428	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		6	152	0	0	0	1	0	6	152					T	21360166	A	T	21360166	3	4	412	1	0	0	0	0	1	0	0	0	13405	388	14	5	323	5	RNASE3	14	21360166	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08		21360166	85989374	67	35866											
ATP8B4	79895	broad.mit.edu	37	chr15	50168650	50168650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaaatttacgcttgTtaaaaagcagattcagctgt	7	5	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:50168650T>C	ENST00000284509.6	-	25	2993	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	951						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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTACGCTTGTTAAAAAGCAG	0.443																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2851-2853)aAc>aGc		ATPase, class I, type 8B, member 4							113	108	109					15																	50168650		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50168650T>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2852A>G	15.37:g.50168650T>C	ENSP00000284509:p.Asn951Ser					ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	25	2993	-		all_lung(180;0.00183)	951					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2852A>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014696	0.75161	.	.	ENSG00000104043	ENST00000284509	T	0.70164	-0.46	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	L	0.41027	1.25	0.47123	D	0.999326	D;P	0.89917	1.0;0.546	D;P	0.91635	0.999;0.52	T	0.74131	-0.3764	10	0.40728	T	0.16	.	14.2189	0.65812	0.0:0.0:0.0:1.0	.	29;951	Q6PG43;Q8TF62	.;AT8B4_HUMAN	S	951	ENSP00000284509:N951S	ENSP00000284509:N951S	N	-	2	0	ATP8B4	47955942	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.073000	0.64395	2.240000	0.73641	0.533000	0.62120	AAC		0.443	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	92	0	0	0	1	0	4	92					C	50168650	T	C	50168650	3	2	412	1	0	0	0	0	1	0	0	0	1197	1725	60	3	742	3	ATP8B4	15	50168650	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		50168650	52362742	68	35867											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350344	51350344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagaagctgacaatggtcaTggcggtctggttcagcttct	12	8	4	2	rs373918716		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:51350344T>C	ENST00000327536.5	-	3	712	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	205										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACAATGGTCATGGCGGTCTGG	0.512																																						ENST00000327536.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11						c.(613-615)Atg>Gtg		tumor necrosis factor, alpha-induced protein 8-like 3							129	107	115					15																	51350344		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51350344T>C	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.613A>G	15.37:g.51350344T>C	ENSP00000328016:p.Met205Val					RP11-108K3.1_ENST00000559909.1_lincRNA	p.M205V	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	3	712	-			205					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.613A>G	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963254	0.74016	.	.	ENSG00000183578	ENST00000327536	T	0.35421	1.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.84082	2.675	0.80722	D	1	D	0.59767	0.986	D	0.68353	0.957	T	0.68830	-0.5305	10	0.87932	D	0	-22.5532	14.7482	0.69505	0.0:0.0:0.0:1.0	.	205	Q5GJ75	TP8L3_HUMAN	V	205	ENSP00000328016:M205V	ENSP00000328016:M205V	M	-	1	0	TNFAIP8L3	49137636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.104000	0.71498	2.077000	0.62373	0.416000	0.27883	ATG		0.512	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381		39	134	0	0	0	1	0	39	134					C	51350344	T	C	51350344	3	2	412	1	0	0	0	0	1	0	0	0	16276	1464	51	3	269	3	TNFAIP8L3	15	51350344	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1181694	51350344	51181048	69	35868											
COMMD4	54939	broad.mit.edu	37	chr15	75630990	75630990	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctcctttccccatagtatGagaagatcctgaagctcacg	8	12	2	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75630990G>A	ENST00000267935.8	+	4	344	c.145G>A	c.(145-147)Gag>Aag	p.E49K	COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	49						cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCCATAGTATGAGAAGATCCT	0.597																																						ENST00000267935.8																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(145-147)Gag>Aag		COMM domain containing 4							41	38	39					15																	75630990		2197	4293	6490	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75630990G>A	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.145G>A	15.37:g.75630990G>A	ENSP00000267935:p.Glu49Lys					COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K	p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			4	344	+			49					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.145G>A	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681132	0.47886	.	.	ENSG00000140365	ENST00000267935;ENST00000338995	.	.	.	4.68	4.68	0.58851	.	0.107104	0.64402	D	0.000007	T	0.77994	0.4214	M	0.80746	2.51	0.58432	D	0.999992	D;B;P	0.67145	0.996;0.011;0.489	D;B;B	0.65443	0.935;0.023;0.302	T	0.76903	-0.2787	9	0.27082	T	0.32	.	16.9149	0.86149	0.0:0.0:1.0:0.0	.	49;49;49	B4DEN0;Q9H0A8-2;Q9H0A8	.;.;COMD4_HUMAN	K	49	.	ENSP00000267935:E49K	E	+	1	0	COMMD4	73418043	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	6.339000	0.72969	2.313000	0.78055	0.536000	0.68110	GAG		0.597	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	31	0	0	0	1	0	3	31					A	75630990	G	A	75630990	3	1	412	1	0	0	0	0	1	0	0	0	3718	1291	45	2	159	2	COMMD4	15	75630990	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	24280646	75630990	26900402	70	35869			1	43		2	2	15	G		4.793674e-05
COMMD4	54939	broad.mit.edu	37	chr15	75631004	75631004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtatgagaagatcctgaaGctcacggctgacgccaagtt	11	9	1	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75631004G>A	ENST00000267935.8	+	4	358	c.159G>A	c.(157-159)aaG>aaA	p.K53K	COMMD4_ENST00000567195.1_Silent_p.K53K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000338995.6_Silent_p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	53						cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						AGATCCTGAAGCTCACGGCTG	0.612																																						ENST00000267935.8																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(157-159)aaG>aaA		COMM domain containing 4							42	37	39					15																	75631004		2196	4293	6489	SO:0001819	synonymous_variant	54939					cytoplasm	protein binding	g.chr15:75631004G>A	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.159G>A	15.37:g.75631004G>A						COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000567195.1_Silent_p.K53K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000338995.6_Silent_p.K53K	p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			4	358	+			53					B2RBN4|H3BUL2|Q7L637|Q9NX43	Silent	SNP	ENST00000267935.8	37	c.159G>A	CCDS10277.1																																																																																				0.612	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	31	0	0	0	1	0	3	31					A	75631004	G	A	75631004	2	1	412	1	0	0	0	0	0	0	0	1	3718	962	34	2		2	COMMD4	15	75631004	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	14	75631004	26900388	71	35870			1	43		2	2	15	G		4.793674e-05
ZP2	7783	broad.mit.edu	37	chr16	21209105	21209105	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctcgtgagccaacctcctCccctgtttcactcctactct	4	19	2	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:21209105C>A	ENST00000574002.1	-	19	2559	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	693					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)		CCAACCTCCTCCCCTGTTTCA	0.468																																						ENST00000574002.1																			0				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						c.(2077-2079)Gag>Tag		zona pellucida glycoprotein 2 (sperm receptor)							202	165	177					16																	21209105		2200	4300	6500	SO:0001587	stop_gained	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21209105C>A	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.2077G>T	16.37:g.21209105C>A	ENSP00000460971:p.Glu693*					ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*	p.E693*			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2559	-			693					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Nonsense_Mutation	SNP	ENST00000574002.1	37	c.2077G>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513788	0.64522	.	.	ENSG00000103310	ENST00000219593	.	.	.	4.49	-1.38	0.09027	.	1.024750	0.07793	N	0.955258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.3398	0.3978	0.00421	0.3342:0.2836:0.1637:0.2185	.	.	.	.	X	693	.	ENSP00000219593:E693X	E	-	1	0	ZP2	21116606	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.603000	0.02077	-0.170000	0.10816	-0.890000	0.02929	GAG		0.468	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			65	123	1	0	1.59245e-42	1	1.85786e-42	65	123					A	21209105	C	A	21209105	4	1	412	1	0	0	0	0	0	1	0	0	18213	864	30	4	168	4	ZP2	16	21209105	Nonsense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		21209105	69145648	72	35871											
IL21R	50615	broad.mit.edu	37	chr16	27459933	27459933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccctccaccctggagGtgtacagctgccacccacca	10	17	0	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:27459933G>T	ENST00000337929.3	+	9	1419	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	316					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCCTGGAGGTGTACAGCTG	0.627			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(946-948)Gtg>Ttg		interleukin 21 receptor							21	24	23					16																	27459933		2195	4291	6486	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27459933G>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.946G>T	16.37:g.27459933G>T	ENSP00000338010:p.Val316Leu					IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000564583.1_3'UTR	p.V316L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1419	+			316					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.946G>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705097	0.30232	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.42131	0.98;0.98;0.98	4.87	0.402	0.16344	.	5.220210	0.01153	N	0.006477	T	0.25568	0.0622	N	0.12471	0.22	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.10894	-1.0610	10	0.25106	T	0.35	-2.2005	5.5068	0.16858	0.2285:0.166:0.6055:0.0	.	316	Q9HBE5	IL21R_HUMAN	L	316	ENSP00000338010:V316L;ENSP00000379104:V316L;ENSP00000379103:V316L	ENSP00000338010:V316L	V	+	1	0	IL21R	27367434	0.097000	0.21791	0.352000	0.25734	0.182000	0.23217	0.134000	0.15932	-0.211000	0.10124	0.561000	0.74099	GTG		0.627	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		13	89	1	0	9.31168e-06	1	9.67542e-06	13	89					T	27459933	G	T	27459933	3	4	412	1	0	0	0	0	1	0	0	0	7671	1261	44	4	976	4	IL21R	16	27459933	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	6250828	27459933	62894820	73	35872											
SIAH1	6477	broad.mit.edu	37	chr16	48396115	48396115	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggatcccaaagggccccgGcaagttggacaacatgtgag	13	10	0	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:48396115G>T	ENST00000380006.2	-	1	1678	c.225C>A	c.(223-225)tgC>tgA	p.C75*	SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	75					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AAGGGCCCCGGCAAGTTGGAC	0.468																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(223-225)tgC>tgA		siah E3 ubiquitin protein ligase 1							76	75	75					16																	48396115		2200	4300	6500	SO:0001587	stop_gained	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396115G>T	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.225C>A	16.37:g.48396115G>T	ENSP00000369343:p.Cys75*					SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*	p.C75*			Q8IUQ4	SIAH1_HUMAN			1	1678	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	75					A0FKF3|O43269|Q49A58|Q92880	Nonsense_Mutation	SNP	ENST00000380006.2	37	c.225C>A	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	48	14.096883	0.99779	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2419	19.3841	0.94550	0.0:0.0:1.0:0.0	.	.	.	.	X	106;75;91	.	ENSP00000349156:C106X	C	-	3	2	SIAH1	46953616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.721000	0.74728	2.590000	0.87494	0.655000	0.94253	TGC		0.468	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			49	77	1	0	6.08268e-21	1	6.9145e-21	49	77					T	48396115	G	T	48396115	4	4	412	1	0	0	0	0	0	1	0	0	14299	1195	42	4	627	4	SIAH1	16	48396115	Nonsense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	20936182	48396115	41958638	74	35873											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	9	0	0	0	1	0	31	9					A	7577121	G	A	7577121	3	1	412	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		7577121	73618089	75	35874											
MYH4	4622	broad.mit.edu	37	chr17	10359013	10359013	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcacaccgttacaccTcagctgatgcaggacaagct	8	14	1	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:10359013T>C	ENST00000255381.2	-	19	2202	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	698	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						CCGTTACACCTCAGCTGATGC	0.488																																						ENST00000255381.2																			0				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						c.(2092-2094)Agg>Ggg		myosin, heavy chain 4, skeletal muscle							102	86	91					17																	10359013		2203	4299	6502	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359013T>C		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.2092A>G	17.37:g.10359013T>C	ENSP00000255381:p.Arg698Gly					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R698G	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			19	2202	-			698			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2092A>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.825695	0.50739	.	.	ENSG00000141048	ENST00000255381	D	0.88664	-2.41	4.94	-4.85	0.03142	Myosin head, motor domain (2);	0.000000	0.35320	U	0.003299	D	0.94092	0.8106	H	0.99783	4.775	0.49389	D	0.99978	B	0.20261	0.043	B	0.24974	0.057	D	0.85101	0.0957	10	0.87932	D	0	.	19.7246	0.96160	0.0:0.0:0.7231:0.2769	.	698	Q9Y623	MYH4_HUMAN	G	698	ENSP00000255381:R698G	ENSP00000255381:R698G	R	-	1	2	MYH4	10299738	0.000000	0.05858	0.984000	0.44739	0.473000	0.32948	-0.554000	0.06006	-0.702000	0.05056	0.254000	0.18369	AGG		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	135	0	0	0	1	0	4	135					C	10359013	T	C	10359013	3	2	412	1	0	0	0	0	1	0	0	0	10037	1550	54	3	3815	3	MYH4	17	10359013	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2781892	10359013	70836197	76	35875											
TRAF4	9618	broad.mit.edu	37	chr17	27074931	27074931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatccacagtgaggaggGctgccgctggagtgggccac	16	12	0	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27074931G>A	ENST00000262395.5	+	3	395	c.266G>A	c.(265-267)gGc>gAc	p.G89D	AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	89					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGTGAGGAGGGCTGCCGCTGG	0.612																																						ENST00000262395.5																			0				endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(265-267)gGc>gAc		TNF receptor-associated factor 4							75	62	66					17																	27074931		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27074931G>A	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.266G>A	17.37:g.27074931G>A	ENSP00000262395:p.Gly89Asp					TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D	p.G89D	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		3	395	+	Lung NSC(42;0.01)		89					O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.266G>A	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127621	0.94473	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396	D;D;D;T	0.87887	-2.31;-2.31;-2.31;0.98	5.28	5.28	0.74379	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.047796	0.85682	D	0.000000	D	0.93074	0.7795	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93511	0.6853	10	0.87932	D	0	.	16.4562	0.84015	0.0:0.0:1.0:0.0	.	89;89	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	D	89;89;96;89;89	ENSP00000262395:G89D;ENSP00000415789:G96D;ENSP00000438154:G89D;ENSP00000262396:G89D	ENSP00000262395:G89D	G	+	2	0	TRAF4	24099058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.768000	0.74980	2.740000	0.93945	0.555000	0.69702	GGC		0.612	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		28	25	0	0	0	1	0	28	25					A	27074931	G	A	27074931	3	1	412	1	0	0	0	0	1	0	0	0	16440	1203	42	2	276	2	TRAF4	17	27074931	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	16715918	27074931	54120279	77	35876											
ERAL1	26284	broad.mit.edu	37	chr17	27186225	27186225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctccctgtacagaagaCagcagtgtgggaggaaggac	14	8	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27186225C>T	ENST00000254928.5	+	9	1212	c.1115C>T	c.(1114-1116)aCa>aTa	p.T372I	MIR144_ENST00000581873.1_lincRNA|MIR144_ENST00000385059.1_lincRNA|MIR144_ENST00000384886.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	372	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTACAGAAGACAGCAGTGTGG	0.507																																						ENST00000254928.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11						c.(1114-1116)aCa>aTa		Era-like 12S mitochondrial rRNA chaperone 1							126	125	125					17																	27186225		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27186225C>T	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1115C>T	17.37:g.27186225C>T	ENSP00000254928:p.Thr372Ile						p.T372I	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		9	1212	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		372			KH type-2.		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.1115C>T	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646489	0.00792	.	.	ENSG00000132591	ENST00000254928	.	.	.	5.86	3.86	0.44501	K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);	0.091395	0.85682	D	0.000000	T	0.31327	0.0793	L	0.31752	0.955	0.38923	D	0.957777	P	0.36412	0.552	B	0.25884	0.064	T	0.20240	-1.0281	9	0.07990	T	0.79	-4.3753	11.9653	0.53031	0.0:0.8562:0.0:0.1438	.	372	O75616	ERAL1_HUMAN	I	372	.	ENSP00000254928:T372I	T	+	2	0	ERAL1	24210351	0.985000	0.35326	0.246000	0.24233	0.029000	0.11900	2.615000	0.46368	1.484000	0.48361	0.655000	0.94253	ACA		0.507	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			59	86	0	0	0	1	0	59	86					T	27186225	C	T	27186225	3	4	412	1	0	0	0	0	1	0	0	0	5202	478	17	2	1149	2	ERAL1	17	27186225	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	111294	27186225	54008985	78	35877											
HNF1B	6928	broad.mit.edu	37	chr17	36070536	36070536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatcaggtgagaggagaTtgtggcctgggtccaggctg	16	8	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36070536T>C	ENST00000225893.4	-	5	1542	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S|HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	394					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|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 initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S388fs*4(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGAGGAGATTGTGGCCTGG	0.522																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			1	Deletion - Frameshift(1)	p.S388fs*4(1)	liver(1)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1180-1182)aAt>aGt		HNF1 homeobox B							129	118	122					17																	36070536		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36070536T>C	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1181A>G	17.37:g.36070536T>C	ENSP00000225893:p.Asn394Ser					HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S|HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S	p.N394S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1542	-		Breast(25;0.00765)|Ovarian(249;0.15)	394					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1181A>G	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	T	3.252	-0.152967	0.06585	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.96802	-4.13;-4.13	5.7	3.42	0.39159	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.196572	0.64402	N	0.000006	T	0.81828	0.4905	N	0.01109	-1.01	0.22521	N	0.999026	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.73839	-0.3856	10	0.02654	T	1	-10.3958	4.5347	0.12022	0.0:0.4522:0.0:0.5478	.	368;394	E0YMJ6;P35680	.;HNF1B_HUMAN	S	394;368;394;282	ENSP00000225893:N394S;ENSP00000412212:N368S	ENSP00000225893:N394S	N	-	2	0	HNF1B	33144649	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.126000	0.31344	1.016000	0.39470	0.533000	0.62120	AAT		0.522	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		14	202	0	0	0	1	0	14	202					C	36070536	T	C	36070536	3	2	412	1	0	0	0	0	1	0	0	0	7252	1493	52	3	512	3	HNF1B	17	36070536	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	8884311	36070536	45124674	79	35878											
TTLL6	284076	broad.mit.edu	37	chr17	46846534	46846534	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagctctgaggactctgcaaGaggagggaggacacatccag	14	9	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:46846534G>T	ENST00000393382.3	-	15	2634	c.2493C>A	c.(2491-2493)ctC>ctA	p.L831L	TTLL6_ENST00000433608.2_Silent_p.L524L	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						GACTCTGCAAGAGGAGGGAGG	0.572																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2491-2493)ctC>ctA		tubulin tyrosine ligase-like family, member 6							48	45	46					17																	46846534		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46846534G>T	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.2493C>A	17.37:g.46846534G>T						TTLL6_ENST00000433608.2_Silent_p.L524L	p.L831L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			15	2634	-			783						Silent	SNP	ENST00000393382.3	37	c.2493C>A	CCDS45724.1																																																																																				0.572	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		8	95	1	0	0.00448238	1	0.00455081	8	95					T	46846534	G	T	46846534	2	4	412	1	0	0	0	0	0	0	0	1	16728	929	33	4		4	TTLL6	17	46846534	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	10775998	46846534	34348676	80	35879											
KIF2B	84643	broad.mit.edu	37	chr17	51901793	51901793	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccagccggaaaaggcagctgGaaggggcagagattaacaag	15	8	0	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:51901793G>C	ENST00000268919.4	+	1	1555	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	467	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)|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)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E467*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCAGCTGGAAGGGGCAGA	0.493																																						ENST00000268919.4																			1	Substitution - Nonsense(1)	p.E467*(1)	lung(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1399-1401)Gaa>Caa		kinesin family member 2B							47	44	45					17																	51901793		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901793G>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1399G>C	17.37:g.51901793G>C	ENSP00000268919:p.Glu467Gln						p.E467Q	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1555	+			467			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1399G>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988047	0.74589	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	D	0.85088	-1.94	5.73	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.45867	D	0.000339	D	0.94886	0.8347	H	0.96208	3.785	0.48236	D	0.999615	D	0.76494	0.999	D	0.83275	0.996	D	0.96622	0.9460	10	0.87932	D	0	.	16.2257	0.82288	0.0:0.133:0.867:0.0	.	467	Q8N4N8	KIF2B_HUMAN	Q	467;355	ENSP00000268919:E467Q	ENSP00000268919:E467Q	E	+	1	0	KIF2B	49256792	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.967000	0.87967	1.540000	0.49301	0.655000	0.94253	GAA		0.493	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		6	87	0	0	0	1	0	6	87					C	51901793	G	C	51901793	3	2	412	1	0	0	0	0	1	0	0	0	8298	1175	41	4	1401	4	KIF2B	17	51901793	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	5055259	51901793	29293417	81	35880											
JMJD6	23210	broad.mit.edu	37	chr17	74722545	74722545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcggatgcgcttcttgcTcttgtggttcattctgcggg	13	11	4	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:74722545T>C	ENST00000397625.4	-	1	127	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000445478.2_Missense_Mutation_p.S5G|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000591571.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	5					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTCTTGCTCTTGTGGTTC	0.667																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(13-15)Agc>Ggc		jumonji domain containing 6							34	38	37					17																	74722545		2036	4190	6226	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74722545T>C	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.13A>G	17.37:g.74722545T>C	ENSP00000380750:p.Ser5Gly					JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|JMJD6_ENST00000397625.4_Missense_Mutation_p.S5G	p.S5G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN			1	216	-			5					B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.13A>G	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089094	0.55968	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.71581	2.175	0.80722	D	1	P;P;P	0.52692	0.599;0.955;0.88	B;B;P	0.45856	0.196;0.133;0.495	T	0.68387	-0.5422	9	0.59425	D	0.04	0.5748	14.2737	0.66166	0.0:0.0:0.0:1.0	.	5;5;5	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	G	5	.	ENSP00000302916:S5G	S	-	1	0	JMJD6	72234140	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.700000	0.54786	1.967000	0.57214	0.402000	0.26972	AGC		0.667	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		36	47	0	0	0	1	0	36	47					C	74722545	T	C	74722545	3	2	412	1	0	0	0	0	1	0	0	0	7953	1551	54	3	1263	3	JMJD6	17	74722545	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	22820752	74722545	6472665	82	35881											
C3	718	broad.mit.edu	37	chr19	6702526	6702526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaacgttccacagccaGctctctgggaactcacttcg	7	16	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:6702526G>T	ENST00000245907.6	-	18	2402	c.2310C>A	c.(2308-2310)agC>agA	p.S770R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	770					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)	TCCACAGCCAGCTCTCTGGGA	0.517																																						ENST00000245907.6																			0				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						c.(2308-2310)agC>agA		complement component 3							132	121	125					19																	6702526		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702526G>T	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.2310C>A	19.37:g.6702526G>T	ENSP00000245907:p.Ser770Arg						p.S770R	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	18	2402	-			770					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2310C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.773186	0.49680	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	5.58	0.391	0.16282	Alpha-2-macroglobulin (1);	0.076303	0.85682	D	0.000000	T	0.61311	0.2337	H	0.96048	3.76	0.37875	D	0.930202	D	0.89917	1.0	D	0.91635	0.999	T	0.64449	-0.6405	10	0.87932	D	0	.	6.9769	0.24681	0.3139:0.0:0.5735:0.1126	.	770	P01024	CO3_HUMAN	R	770	ENSP00000245907:S770R	ENSP00000245907:S770R	S	-	3	2	C3	6653526	0.994000	0.37717	0.998000	0.56505	0.514000	0.34195	0.202000	0.17295	-0.027000	0.13873	-0.797000	0.03246	AGC		0.517	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		79	93	1	0	1.55521e-42	1	1.83047e-42	79	93					T	6702526	G	T	6702526	3	4	412	1	0	0	0	0	1	0	0	0	2204	962	34	4	2777	4	C3	19	6702526	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		6702526	52426457	83	35882											
MUC16	94025	broad.mit.edu	37	chr19	9072192	9072192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacaggttccaagcgtGtacgtaatatgtctgtaatc	10	8	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:9072192G>T	ENST00000397910.4	-	3	15457	c.15254C>A	c.(15253-15255)aCa>aAa	p.T5085K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5087	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						TTCCAAGCGTGTACGTAATAT	0.433																																						ENST00000397910.4																			0				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						c.(15253-15255)aCa>aAa		mucin 16, cell surface associated							180	162	168					19																	9072192		1920	4133	6053	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072192G>T	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.15254C>A	19.37:g.9072192G>T	ENSP00000381008:p.Thr5085Lys						p.T5085K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15457	-			5087			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15254C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.695	0.312772	0.10789	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.78	0.683	0.17998	.	.	.	.	.	T	0.27169	0.0666	L	0.50333	1.59	.	.	.	D	0.62365	0.991	P	0.50136	0.632	T	0.34477	-0.9827	8	0.87932	D	0	.	4.523	0.11968	0.204:0.0:0.796:0.0	.	5085	B5ME49	.	K	5085	ENSP00000381008:T5085K	ENSP00000381008:T5085K	T	-	2	0	MUC16	8933192	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-0.448000	0.06820	0.323000	0.23307	0.282000	0.19409	ACA		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	220	1	0	2.56e-06	1	2.68094e-06	4	220					T	9072192	G	T	9072192	3	4	412	1	0	0	0	0	1	0	0	0	9973	1377	48	4	28597	4	MUC16	19	9072192	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	2369666	9072192	50056791	84	35883											
NWD1	284434	broad.mit.edu	37	chr19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-													agacatggtggagacggctgTttttggtactgagaacaacc							TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							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						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				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						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301	275	284					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	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.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	636						7	636	---	---	---	---	-	16908642	T	-	16908642	7	5	412	1	0	1	0	1	0	0	0	0	10781	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-S9-A6TS-01A-12D-A33T-08	7836450	16908642	42220341	85	35884											
ZNF99	7652	broad.mit.edu	37	chr19	22940995	22940995	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagattgcttaaaagcTttgccacattcttcacattt	6	8	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940995T>A	ENST00000596209.1	-	4	1806	c.1716A>T	c.(1714-1716)aaA>aaT	p.K572N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K481N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	572					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)|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)				GCTTAAAAGCTTTGCCACATT	0.358																																						ENST00000397104.3																			0				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						c.(1441-1443)aaA>aaT		zinc finger protein 99							50	54	52					19																	22940995		2097	4235	6332	SO:0001583	missense	7652							g.chr19:22940995T>A	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.1716A>T	19.37:g.22940995T>A	ENSP00000472969:p.Lys572Asn					ZNF99_ENST00000596209.1_Missense_Mutation_p.K572N	p.K481N							5	1442	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1443A>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.653058	0.29336	.	.	ENSG00000213973	ENST00000397104	T	0.07908	3.15	1.57	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30665	0.0772	M	0.92122	3.275	0.22947	N	0.998528	D	0.89917	1.0	D	0.87578	0.998	T	0.06625	-1.0816	9	0.87932	D	0	.	5.7165	0.17962	0.0:0.2901:0.0:0.7099	.	481	A8MXY4	ZNF99_HUMAN	N	481	ENSP00000380293:K481N	ENSP00000380293:K481N	K	-	3	2	ZNF99	22732835	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.671000	0.05250	-0.664000	0.05324	-0.548000	0.04221	AAA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		12	99	0	0	0	1	0	12	99					A	22940995	T	A	22940995	3	1	412	1	0	0	0	0	1	0	0	0	18201	1606	56	5	1681	5	ZNF99	19	22940995	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	6032353	22940995	36187988	86	35885											
PLEKHG2	64857	broad.mit.edu	37	chr19	39909586	39909586	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caagaagagaagaggctgtgGattcactgtctccagcgcct	12	10	2	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:39909586G>C	ENST00000409794.3	+	11	2056	c.1206G>C	c.(1204-1206)tgG>tgC	p.W402C	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.W402C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	402	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)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAGGCTGTGGATTCACTGTC	0.617																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1204-1206)tgG>tgC		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							113	123	120					19																	39909586		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39909586G>C	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1206G>C	19.37:g.39909586G>C	ENSP00000386733:p.Trp402Cys					PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C	p.W402C			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1531	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		402			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1206G>C	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.815539|3.815539	0.70912|0.70912	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	.|D;D;D;D;D	.|0.99207	.|-5.56;-5.56;-5.56;-5.56;-5.56	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.56097	.|D	.|0.000024	D|D	0.99093|0.99093	0.9688|0.9688	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.994;0.999;1.0	D|D	0.99667|0.99667	1.0995|1.0995	5|10	.|0.87932	.|D	.|0	.|.	16.3372|16.3372	0.83068|0.83068	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|402;402;343;402	.|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.|.;PKHG2_HUMAN;.;.	A|C	299|402;402;402;343;402	.|ENSP00000386733:W402C;ENSP00000392906:W402C;ENSP00000367812:W402C;ENSP00000408857:W343C;ENSP00000386492:W402C	.|ENSP00000367812:W402C	G|W	+|+	2|3	0|0	PLEKHG2|PLEKHG2	44601426|44601426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.101000|9.101000	0.94219|0.94219	2.409000|2.409000	0.81822|0.81822	0.462000|0.462000	0.41574|0.41574	GGA|TGG		0.617	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		32	224	0	0	0	1	0	32	224					C	39909586	G	C	39909586	3	2	412	1	0	0	0	0	1	0	0	0	12069	1183	41	4	1244	4	PLEKHG2	19	39909586	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	16968591	39909586	19219397	87	35886											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166	157	160					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		6	366	0	0	0	1	0	6	366					T	42132119	C	T	42132119	3	4	412	1	0	0	0	0	1	0	0	0	3194	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	2222533	42132119	16996864	88	35887											
CEACAM5	1048	broad.mit.edu	37	chr19	42213889	42213889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagaatgacacaggaTtctacaccctacacgtcata	5	13	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42213889T>C	ENST00000221992.6	+	2	469	c.355T>C	c.(355-357)Ttc>Ctc	p.F119L	CEACAM7_ENST00000599715.1_5'Flank|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L|CEA_ENST00000598976.1_Missense_Mutation_p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	119	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGACACAGGATTCTACACCCT	0.493																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(355-357)Ttc>Ctc		carcinoembryonic antigen-related cell adhesion molecule 5							229	230	229					19																	42213889		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213889T>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.355T>C	19.37:g.42213889T>C	ENSP00000221992:p.Phe119Leu					CEA_ENST00000598976.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L	p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	469	+			119			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.355T>C	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	5.246|5.246	0.230903|0.230903	0.09969|0.09969	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816|ENST00000398599	T;T|.	0.62788|.	-0.0;-0.0|.	3.09|3.09	-2.87|-2.87	0.05700|0.05700	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.35828|0.35828	0.0945|0.0945	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B|.	0.30193|.	0.007;0.174;0.272|.	B;B;B|.	0.38803|.	0.015;0.282;0.144|.	T|T	0.39187|0.39187	-0.9626|-0.9626	9|5	0.26408|.	T|.	0.33|.	.|.	3.8331|3.8331	0.08882|0.08882	0.3498:0.0:0.3826:0.2676|0.3498:0.0:0.3826:0.2676	.|.	119;119;119|.	Q8N4D0;P06731;Q53G30|.	.;CEAM5_HUMAN;.|.	L|T	119|115	ENSP00000221992:F119L;ENSP00000385072:F119L|.	ENSP00000221992:F119L|.	F|I	+|+	1|2	0|0	CEACAM5|CEACAM5	46905729|46905729	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.012000|0.012000	0.07955|0.07955	-2.221000|-2.221000	0.01216|0.01216	-0.391000|-0.391000	0.07763|0.07763	0.254000|0.254000	0.18369|0.18369	TTC|ATT		0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		5	535	0	0	0	1	0	5	535					C	42213889	T	C	42213889	3	2	412	1	0	0	0	0	1	0	0	0	3195	1493	52	3	361	3	CEACAM5	19	42213889	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	81770	42213889	16915094	89	35888											
SULF2	55959	broad.mit.edu	37	chr20	46291958	46291958	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcacagaaaggccccacTgccaaggaagagagagcatg	13	11	0	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr20:46291958T>C	ENST00000359930.4	-	17	3079		c.e17-2		SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000467815.1_Splice_Site|SULF2_ENST00000484875.1_Splice_Site	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2						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						AAGGCCCCACTGCCAAGGAAG	0.527											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359930.4																			0				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						c.e17-2		sulfatase 2							114	102	106					20																	46291958		2203	4300	6503	SO:0001630	splice_region_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46291958T>C	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.2228-2A>G	20.37:g.46291958T>C			OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_ENST00000467815.1_Splice_Site|SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site		NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			17	3079	-								E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Splice_Site	SNP	ENST00000359930.4	37		CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759613	0.49468	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000495544;ENST00000467815	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8337	0.78782	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULF2	45725365	1.000000	0.71417	0.999000	0.59377	0.374000	0.29953	7.930000	0.87610	2.158000	0.67659	0.454000	0.30748	.		0.527	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	Intron	4	68	0	0	0	1	0	4	68					C	46291958	T	C	46291958	5	2	412	1	0	0	0	0	0	0	1	0	15370	1594	55	3	406	3	SULF2	20	46291958	Splice_Site	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		46291958	16733562	90	35889											
APP	351	broad.mit.edu	37	chr21	27462309	27462309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggtcttgcactgcttgCggccccgcttgcaccagttc	12	14	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:27462309C>T	ENST00000346798.3	-	3	338	c.305G>A	c.(304-306)cGc>cAc	p.R102H	APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000354192.3_Missense_Mutation_p.R46H|APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000358918.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_Missense_Mutation_p.R102H|APP_ENST00000357903.3_Missense_Mutation_p.R102H	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	102	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACTGCTTGCGGCCCCGCTT	0.582																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(304-306)cGc>cAc		amyloid beta (A4) precursor protein							143	116	125					21																	27462309		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27462309C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.305G>A	21.37:g.27462309C>T	ENSP00000284981:p.Arg102His					APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000348990.5_Missense_Mutation_p.R102H|APP_ENST00000346798.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.R102H|APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000354192.3_Missense_Mutation_p.R46H	p.R102H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			3	504	-		Breast(209;0.00295)	102			Heparin-binding.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.305G>A	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436785	0.96168	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;D;D;D;D;D;D;D;D	0.96334	-2.02;-3.98;-3.98;-2.04;-1.87;-3.98;-3.98;-2.03;-2.02	5.75	5.75	0.90469	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.055410	0.85682	D	0.000000	D	0.97300	0.9117	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;P;D	0.89917	1.0;0.997;0.997;0.97;0.997;0.999;0.696;0.997	D;P;P;P;P;D;B;P	0.74674	0.97;0.78;0.78;0.551;0.577;0.984;0.169;0.78	D	0.97920	1.0314	10	0.87932	D	0	-15.6961	18.712	0.91661	0.0:1.0:0.0:0.0	.	102;67;46;97;46;102;102;102	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;.;A4_HUMAN	H	102;46;102;102;102;102;67;97;46	ENSP00000284981:R102H;ENSP00000346129:R46H;ENSP00000345463:R102H;ENSP00000350578:R102H;ENSP00000351796:R102H;ENSP00000352760:R102H;ENSP00000388538:R67H;ENSP00000387483:R97H;ENSP00000398879:R46H	ENSP00000284981:R102H	R	-	2	0	APP	26384180	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.491000	0.53252	2.716000	0.92895	0.650000	0.86243	CGC		0.582	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		4	155	0	0	0	1	0	4	155					T	27462309	C	T	27462309	3	4	412	1	0	0	0	0	1	0	0	0	815	768	27	1	2071	1	APP	21	27462309	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		27462309	20667586	91	35890											
SYNJ1	8867	broad.mit.edu	37	chr21	34053878	34053878	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattcacggaccacatTgaccgaaaaacttcttgaaa	5	12	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:34053878T>A	ENST00000322229.7	-	10	1280	c.1281A>T	c.(1279-1281)tcA>tcT	p.S427S	SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000382499.2_Silent_p.S466S|SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000357345.3_Silent_p.S427S			O43426	SYNJ1_HUMAN	synaptojanin 1	427	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACCACATTGACCGAAAAA	0.393																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1396-1398)tcA>tcT		synaptojanin 1							137	133	134					21																	34053878		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34053878T>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1281A>T	21.37:g.34053878T>A						SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000322229.7_Silent_p.S427S|SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000357345.3_Silent_p.S427S	p.S466S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			11	1397	-			427					O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1398A>T	CCDS54484.1																																																																																				0.393	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				9	264	0	0	0	1	0	9	264					A	34053878	T	A	34053878	2	1	412	1	0	0	0	0	0	0	0	1	15449	1799	63	5		5	SYNJ1	21	34053878	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	6591569	34053878	14076017	92	35891											
RUNX1	861	broad.mit.edu	37	chr21	36164874	36164874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcagcgcggggaactggCgcgggtcgctgaacgctgtc	19	11	0	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:36164874C>T	ENST00000344691.4	-	6	2497	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H|RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	307	Interaction with KAT6A.|Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGGAACTGGCGCGGGTCGCT	0.687			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"		"AML, preB- ALL, T-ALL"		0				breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(919-921)cGc>cAc		runt-related transcription factor 1							17	14	15					21																	36164874		2191	4275	6466	SO:0001583	missense	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36164874C>T	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.920G>A	21.37:g.36164874C>T	ENSP00000340690:p.Arg307His					RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H|RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H	p.R307H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			6	2497	-			307			Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.920G>A	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231131	0.95207	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.22	5.22	0.72569	.	0.276491	0.31404	N	0.007704	D	0.95114	0.8417	M	0.79011	2.435	0.80722	D	1	D;D;D	0.76494	0.994;0.983;0.999	P;P;D	0.66979	0.759;0.674;0.948	D	0.95597	0.8659	10	0.87932	D	0	-5.9915	18.3819	0.90453	0.0:1.0:0.0:0.0	.	334;322;307	Q01196-8;Q01196-10;Q01196	.;.;RUNX1_HUMAN	H	307;334;334;322;243;68;310	ENSP00000340690:R307H;ENSP00000300305:R334H;ENSP00000409227:R334H;ENSP00000319459:R322H;ENSP00000382184:R243H	ENSP00000300305:R334H	R	-	2	0	RUNX1	35086744	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.172000	0.65003	2.442000	0.82660	0.563000	0.77884	CGC		0.687	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			14	14	0	0	0	1	0	14	14					T	36164874	C	T	36164874	3	4	412	1	0	0	0	0	1	0	0	0	13746	768	27	1	445	1	RUNX1	21	36164874	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	2110996	36164874	11965021	93	35892											
SSX7	280658	broad.mit.edu	37	chrX	52681398	52681398	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggagggtggccttgaagcCtagaaagaagcaaaatgttt	14	5	0	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:52681398C>G	ENST00000298181.5	-	4	343		c.e4-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GCCTTGAAGCCTAGAAAGAAG	0.483																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.e4-1		synovial sarcoma, X breakpoint 7							140	121	128					X																	52681398		2203	4300	6503	SO:0001630	splice_region_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681398C>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.185-1G>C	X.37:g.52681398C>G								NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			4	343	-	Ovarian(276;0.236)								Splice_Site	SNP	ENST00000298181.5	37		CCDS14343.1	.	.	.	.	.	.	.	.	.	.	.	1.181	-0.638024	0.03557	.	.	ENSG00000187754	ENST00000298181	.	.	.	0.56	0.56	0.17279	.	.	.	.	.	.	.	.	.	.	.	0.21105	N	0.999784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	SSX7	52698123	0.314000	0.24563	0.016000	0.15963	0.016000	0.09150	1.451000	0.35145	0.518000	0.28383	0.174000	0.16983	.		0.483	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358	Intron	21	143	0	0	0	1	0	21	143					G	52681398	C	G	52681398	5	3	412	1	0	0	0	0	0	0	1	0	15208	695	24	4	398	4	SSX7	23	52681398	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		52681398	102589162	94	35893											
GNL3L	54552	broad.mit.edu	37	chrX	54581027	54581027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggagaatctgatgagctgTtgggtgacacggacccactt	13	10	1	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:54581027T>C	ENST00000336470.4	+	14	1487	c.1348T>C	c.(1348-1350)Ttg>Ctg	p.L450L	GNL3L_ENST00000360845.2_Silent_p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	450					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGATGAGCTGTTGGGTGACAC	0.522																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1348-1350)Ttg>Ctg		guanine nucleotide binding protein-like 3 (nucleolar)-like							158	118	132					X																	54581027		2203	4300	6503	SO:0001819	synonymous_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54581027T>C	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1348T>C	X.37:g.54581027T>C						GNL3L_ENST00000360845.2_Silent_p.L450L	p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			14	1487	+			450						Silent	SNP	ENST00000336470.4	37	c.1348T>C	CCDS14360.1																																																																																				0.522	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		4	102	0	0	0	1	0	4	102					C	54581027	T	C	54581027	2	2	412	1	0	0	0	0	0	0	0	1	6538	1722	60	3		3	GNL3L	23	54581027	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1899629	54581027	100689533	95	35894											
AR	367	broad.mit.edu	37	chrX	66931475	66931475	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccttgctctctagcctcaAtgaactgggagagagacagc	11	11	2	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:66931475A>G	ENST00000374690.3	+	4	2641	c.2117A>G	c.(2116-2118)aAt>aGt	p.N706S	AR_ENST00000396044.3_Missense_Mutation_p.N706S|AR_ENST00000396043.2_Missense_Mutation_p.N174S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	705	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)	TCTAGCCTCAATGAACTGGGA	0.522									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				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	GRCh37	CM024554|CM920075	AR	M		c.(2116-2118)aAt>aGt		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						88	68	75					X																	66931475		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66931475A>G	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.2117A>G	X.37:g.66931475A>G	ENSP00000363822:p.Asn706Ser					AR_ENST00000396043.2_Missense_Mutation_p.N174S|AR_ENST00000396044.3_Missense_Mutation_p.N706S	p.N706S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			4	2641	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	705			Interaction with MYST2.|Ligand-binding.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.2117A>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	22.9	4.353794	0.82243	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396044;ENST00000396043	D;D;D	0.99748	-6.62;-2.41;-6.62	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.98030	1.0376	10	0.87932	D	0	.	11.7744	0.51977	1.0:0.0:0.0:0.0	.	174;705	F1D8N5;P10275	.;ANDR_HUMAN	S	516;706;706;174	ENSP00000363822:N706S;ENSP00000379359:N706S;ENSP00000379358:N174S	ENSP00000363822:N706S	N	+	2	0	AR	66848200	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.136000	0.94489	1.909000	0.55274	0.478000	0.44815	AAT		0.522	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		8	61	0	0	0	1	0	8	61					G	66931475	A	G	66931475	3	3	412	1	0	0	0	0	1	0	0	0	836	101	4	3	2155	3	AR	23	66931475	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	12350448	66931475	88339085	96	35895											
ATRX	546	broad.mit.edu	37	chrX	76812938	76812938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctttggcagcatgggaGtatccctcttcttcttcttt	7	11	4	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:76812938G>A	ENST00000373344.5	-	30	6897	c.6683C>T	c.(6682-6684)aCt>aTt	p.T2228I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2228	Interaction with MECP2.				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						CAGCATGGGAGTATCCCTCTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6682-6684)aCt>aTt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						108	107	107					X																	76812938		2203	4293	6496	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76812938G>A	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.6683C>T	X.37:g.76812938G>A	ENSP00000362441:p.Thr2228Ile					ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I|ATRX_ENST00000480283.1_5'UTR	p.T2228I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6897	-			2228					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6683C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432118	0.62844	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92965	-3.14;-3.14	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93488	0.7922	N	0.26092	0.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.957	D	0.93995	0.7270	10	0.51188	T	0.08	-12.2007	18.765	0.91868	0.0:0.0:1.0:0.0	.	2190;2228	P46100-4;P46100	.;ATRX_HUMAN	I	2228;2190	ENSP00000362441:T2228I;ENSP00000378967:T2190I	ENSP00000362441:T2228I	T	-	2	0	ATRX	76699594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.649000	0.83500	2.377000	0.81083	0.594000	0.82650	ACT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		144	207	0	0	0	1	0	144	207					A	76812938	G	A	76812938	3	1	412	1	0	0	0	0	1	0	0	0	1208	1029	36	2	819	2	ATRX	23	76812938	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	9881463	76812938	78457622	97	35896											
ATP7A	538	broad.mit.edu	37	chrX	77254082	77254082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacaccagttcaagacaagGaggaaggaaagaattcatct	10	7	3	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:77254082G>A	ENST00000341514.6	+	5	1599	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	482					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)	TCAAGACAAGGAGGAAGGAAA	0.428																																						ENST00000341514.6																			0				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						c.(1444-1446)Gag>Aag		ATPase, Cu++ transporting, alpha polypeptide							185	166	172					X																	77254082		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77254082G>A	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.1444G>A	X.37:g.77254082G>A	ENSP00000345728:p.Glu482Lys					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K	p.E482K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			5	1599	+			482					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1444G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165199	0.01673	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96104	-3.9;-3.91	4.83	3.96	0.45880	.	1.009550	0.07932	N	0.977746	D	0.90253	0.6952	N	0.19112	0.55	0.58432	D	0.999992	B;B	0.15141	0.001;0.012	B;B	0.12156	0.007;0.006	T	0.75519	-0.3289	10	0.06236	T	0.91	2.0838	13.7107	0.62667	0.0:0.4978:0.5022:0.0	.	482;492	Q04656;Q59HD1	ATP7A_HUMAN;.	K	482;482;492	ENSP00000343026:E482K;ENSP00000345728:E482K	ENSP00000345728:E482K	E	+	1	0	ATP7A	77140738	0.989000	0.36119	0.032000	0.17829	0.009000	0.06853	3.222000	0.51223	0.950000	0.37743	-0.217000	0.12591	GAG		0.428	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		14	370	0	0	0	1	0	14	370					A	77254082	G	A	77254082	3	1	412	1	0	0	0	0	1	0	0	0	1190	1175	41	2	1458	2	ATP7A	23	77254082	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	441144	77254082	78016478	98	35897											
RGAG1	57529	broad.mit.edu	37	chrX	109694101	109694101	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtaccaaactctggaGcattgtccccacccctaatg	9	13	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:109694101G>C	ENST00000465301.2	+	3	502	c.256G>C	c.(256-258)Gca>Cca	p.A86P	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	86										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						AAACTCTGGAGCATTGTCCCC	0.542											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000465301.2																			0				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						c.(256-258)Gca>Cca		retrotransposon gag domain containing 1							205	190	195					X																	109694101		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694101G>C	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.256G>C	X.37:g.109694101G>C	ENSP00000419786:p.Ala86Pro		OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1421	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	502	+			86					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.256G>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161563	0.21538	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.51325	0.71;0.71	4.33	1.57	0.23409	.	0.481431	0.15508	N	0.258666	T	0.43700	0.1259	L	0.27053	0.805	0.09310	N	0.999992	D	0.61080	0.989	P	0.58454	0.839	T	0.20042	-1.0287	9	.	.	.	-6.0017	5.3724	0.16146	0.3878:0.0:0.6122:0.0	.	86	Q8NET4	RGAG1_HUMAN	P	86	ENSP00000419786:A86P;ENSP00000441452:A86P	.	A	+	1	0	RGAG1	109580757	0.065000	0.20965	0.056000	0.19401	0.045000	0.14185	0.645000	0.24782	0.190000	0.20209	-0.192000	0.12808	GCA		0.542	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		28	483	0	0	0	1	0	28	483					C	109694101	G	C	109694101	3	2	412	1	0	0	0	0	1	0	0	0	13274	971	34	4	258	4	RGAG1	23	109694101	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	32440019	109694101	45576459	99	35898											
TRPC5	7224	broad.mit.edu	37	chrX	111097327	111097327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgttggcagttgggctgaGcaacaaactgggaaaagaag	14	6	0	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111097327G>A	ENST00000262839.2	-	4	1826	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	303					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGGCTGAGCAACAAACTG	0.488																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(907-909)gCt>gTt		transient receptor potential cation channel, subfamily C, member 5							37	28	31					X																	111097327		2203	4298	6501	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097327G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.908C>T	X.37:g.111097327G>A	ENSP00000262839:p.Ala303Val						p.A303V	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			4	1826	-			303					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.908C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432661	0.83776	.	.	ENSG00000072315	ENST00000262839	T	0.73258	-0.73	4.61	4.61	0.57282	.	0.050095	0.85682	D	0.000000	T	0.80919	0.4716	M	0.92555	3.32	0.80722	D	1	P;B	0.38455	0.632;0.403	B;B	0.41946	0.371;0.371	D	0.86266	0.1658	10	0.87932	D	0	-10.5671	16.967	0.86288	0.0:0.0:1.0:0.0	.	304;303	Q59G51;Q9UL62	.;TRPC5_HUMAN	V	303	ENSP00000262839:A303V	ENSP00000262839:A303V	A	-	2	0	TRPC5	110983983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.272000	0.75746	0.600000	0.82982	GCT		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		3	37	0	0	0	1	0	3	37					A	111097327	G	A	111097327	3	1	412	1	0	0	0	0	1	0	0	0	16579	971	34	2	2045	2	TRPC5	23	111097327	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1403226	111097327	44173233	100	35899											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	9	13	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(205-207)Cgc>Tgc		lipoma HMGIC fusion partner-like 1							141	125	130					X																	111914414		2203	4300	6503	SO:0001583	missense	340596					integral to membrane		g.chrX:111914414G>A	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.205C>T	X.37:g.111914414G>A	ENSP00000361036:p.Arg69Cys					LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN			2	444	-			69					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.205C>T	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861972	0.71949	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.73152	-0.72;-0.72	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.83944	0.0313	10	0.49607	T	0.09	-29.645	10.2057	0.43112	0.0:0.0:0.8026:0.1974	.	69;69	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	C	69	ENSP00000361036:R69C;ENSP00000444573:R69C	ENSP00000361036:R69C	R	-	1	0	LHFPL1	111801070	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.553000	0.53713	2.456000	0.83038	0.600000	0.82982	CGC		0.592	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		94	122	0	0	0	1	0	94	122					A	111914414	G	A	111914414	3	1	412	1	0	0	0	0	1	0	0	0	8764	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	817087	111914414	43356146	101	35900											
ODZ1	10178	broad.mit.edu	37	chrX	123615606	123615606	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agggctattcagtgaagcttCcgatgctctcccaccatctc	8	14	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:123615606C>G	ENST00000371130.3	-	21	3967	c.3904G>C	c.(3904-3906)Gaa>Caa	p.E1302Q	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.E1309Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1302					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)										AGTGAAGCTTCCGATGCTCTC	0.378																																						ENST00000422452.2																			0											c.(3925-3927)Gaa>Caa		teneurin transmembrane protein 1							77	62	67					X																	123615606		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123615606C>G	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.3904G>C	X.37:g.123615606C>G	ENSP00000360171:p.Glu1302Gln					TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.E1302Q	p.E1309Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					22	3988	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3925G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229941	0.79688	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.29	5.29	0.74685	Six-bladed beta-propeller, TolB-like (1);	0.056297	0.64402	D	0.000001	D	0.87815	0.6272	L	0.27053	0.805	0.80722	D	1	D;D;P	0.76494	0.997;0.999;0.866	D;D;P	0.75484	0.986;0.94;0.589	D	0.87810	0.2631	10	0.39692	T	0.17	.	17.9918	0.89171	0.0:1.0:0.0:0.0	.	1308;1309;1302	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	1302;1309	ENSP00000360171:E1302Q;ENSP00000403954:E1309Q	ENSP00000360171:E1302Q	E	-	1	0	ODZ1	123443287	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.014000	0.70784	2.183000	0.69458	0.600000	0.82982	GAA		0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		55	61	0	0	0	1	0	55	61					G	123615606	C	G	123615606	3	3	412	1	0	0	0	0	1	0	0	0	10834	864	30	4	4317	4	ODZ1	23	123615606	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	11701192	123615606	31654954	102	35901											
SLC25A14	9016	broad.mit.edu	37	chrX	129480618	129480618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagagggatgttccatgcGctgtttcgcatctgtaaaga	11	7	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:129480618G>A	ENST00000218197.5	+	3	497	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000543953.1_Silent_p.A55A|SLC25A14_ENST00000545805.1_Silent_p.A90A	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													G|||	1	0.000264901	0.0	0.0	3775	,	,		14623	0.0		0.0	False		,,,				2504	0.001					ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(163-165)gcG>gcA		solute carrier family 25 (mitochondrial carrier, brain), member 14							154	140	145					X																	129480618		2203	4299	6502	SO:0001819	synonymous_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129480618G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"Solute carriers"	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.270G>A	X.37:g.129480618G>A						SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A	p.A55A			O95258	UCP5_HUMAN			3	214	+			90		E -> A (in dbSNP:rs2143598).			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	c.165G>A	CCDS14623.1																																																																																				0.423	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		30	286	0	0	0	1	0	30	286					A	129480618	G	A	129480618	2	1	412	1	0	0	0	0	0	0	0	1	14476	1074	38	1		1	SLC25A14	23	129480618	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	5865012	129480618	25789942	103	35902											
RAP2C	57826	broad.mit.edu	37	chrX	131351247	131351247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaactgcacagtaagggcaGatttgccaacccctccactc	7	15	0	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:131351247G>T	ENST00000342983.2	-	2	796	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	17					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)					AGTAAGGGCAGATTTGCCAAC	0.507																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(49-51)tCt>tAt		RAP2C, member of RAS oncogene family							177	181	180					X																	131351247		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351247G>T	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.50C>A	X.37:g.131351247G>T	ENSP00000340274:p.Ser17Tyr					RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y	p.S17Y	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	796	-	Acute lymphoblastic leukemia(192;0.000127)		17					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.50C>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.882181	0.91740	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	D;D	0.86497	-2.13;-2.13	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99170	1.0864	10	0.87932	D	0	.	17.8602	0.88779	0.0:0.0:1.0:0.0	.	17	Q9Y3L5	RAP2C_HUMAN	Y	17	ENSP00000340274:S17Y;ENSP00000359911:S17Y	ENSP00000340274:S17Y	S	-	2	0	RAP2C	131178928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.236000	0.73375	0.502000	0.49764	TCT		0.507	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		7	523	1	0	5.4927e-09	1	5.98795e-09	7	523					T	131351247	G	T	131351247	3	4	412	1	0	0	0	0	1	0	0	0	13042	942	33	4	509	4	RAP2C	23	131351247	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1870629	131351247	23919313	104	35903											
AFF2	2334	broad.mit.edu	37	chrX	148048608	148048608	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcacttttgatgacTcgtatgttgttccagattat	7	9	1	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:148048608T>C	ENST00000370460.2	+	14	3681	c.3202T>C	c.(3202-3204)Tcg>Ccg	p.S1068P	AFF2_ENST00000286437.5_Splice_Site_p.S709P|AFF2_ENST00000370457.5_Splice_Site_p.S1033P|AFF2_ENST00000342251.3_Splice_Site_p.S1035P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1068					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGATGACTCGTATGTTGT	0.517																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e14+1		AF4/FMR2 family, member 2							154	129	138					X																	148048608		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048608T>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3203+1T>C	X.37:g.148048608T>C						AFF2_ENST00000370457.5_Splice_Site_p.S1033_splice|AFF2_ENST00000342251.3_Splice_Site_p.S1035_splice|AFF2_ENST00000286437.5_Splice_Site_p.S709_splice	p.S1068_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3681	+	Acute lymphoblastic leukemia(192;6.56e-05)		1068					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37	c.3203_splice	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665805	0.67700	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.57	2.78	0.32641	.	0.473695	0.18848	N	0.129495	T	0.65626	0.2709	L	0.53249	1.67	0.28797	N	0.898986	B;D;B;D;D;D	0.56968	0.078;0.978;0.064;0.962;0.962;0.969	B;D;B;P;P;P	0.63113	0.246;0.911;0.159;0.573;0.573;0.699	T	0.56475	-0.7973	10	0.30854	T	0.27	.	4.5918	0.12310	0.4226:0.0:0.2388:0.3385	.	709;1033;1033;1029;1058;1068	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	P	1068;1033;1035;709	ENSP00000359489:S1068P;ENSP00000359486:S1033P;ENSP00000345459:S1035P;ENSP00000286437:S709P	ENSP00000286437:S709P	S	+	1	0	AFF2	147856302	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.884000	0.48562	1.860000	0.53959	0.417000	0.27973	TCG		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Missense_Mutation	7	230	0	0	0	1	0	7	230					C	148048608	T	C	148048608	5	2	412	1	0	0	0	0	0	0	1	0	357	1565	54	3	3311	3	AFF2	23	148048608	Splice_Site	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	16697361	148048608	7221952	105	35904											
MTM1	4534	broad.mit.edu	37	chrX	149828189	149828189	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaccgttctcctatttTtctccagtttattgattgtg	7	9	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:149828189T>C	ENST00000370396.2	+	12	1367	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S|MTM1_ENST00000413012.2_Missense_Mutation_p.F401S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	438	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTATTTTTCTCCAGTTT	0.313																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1312-1314)tTt>tCt		myotubularin 1							163	137	146					X																	149828189		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149828189T>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1313T>C	X.37:g.149828189T>C	ENSP00000359423:p.Phe438Ser					MTM1_ENST00000413012.2_Missense_Mutation_p.F401S|MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S	p.F438S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			12	1367	+	Acute lymphoblastic leukemia(192;6.56e-05)		438			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1313T>C	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715052	0.89112	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	5.54	5.54	0.83059	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98329	1.0532	10	0.87932	D	0	.	14.723	0.69323	0.0:0.0:0.0:1.0	.	401;438	B7Z491;Q13496	.;MTM1_HUMAN	S	438;343;323;401	ENSP00000359423:F438S;ENSP00000444015:F343S;ENSP00000439784:F323S;ENSP00000389157:F401S	ENSP00000359423:F438S	F	+	2	0	MTM1	149578847	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.003000	0.88520	1.858000	0.53909	0.441000	0.28932	TTT		0.313	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		9	127	0	0	0	1	0	9	127					C	149828189	T	C	149828189	3	2	412	1	0	0	0	0	1	0	0	0	9937	1841	64	3	1355	3	MTM1	23	149828189	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1779581	149828189	5442371	106	35905											
GAB3	139716	broad.mit.edu	37	chrX	153940503	153940503	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttaggacccaacacttaCctttccaggttctcatgttg	6	12	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:153940503C>A	ENST00000369575.3	-	4	1098		c.e4+1		GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Splice_Site	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3						macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAACACTTACCTTTCCAGGT	0.507																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.e4+1		GRB2-associated binding protein 3							87	70	75					X																	153940503		2203	4300	6503	SO:0001630	splice_region_variant	139716							g.chrX:153940503C>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1066+1G>T	X.37:g.153940503C>A						GAB3_ENST00000424127.2_Splice_Site|GAB3_ENST00000496390.1_Intron		NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			4	1098	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							A6NHF8|E9PB44	Splice_Site	SNP	ENST00000369575.3	37		CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085597	0.36758	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1053	0.81216	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAB3	153593697	1.000000	0.71417	0.997000	0.53966	0.210000	0.24377	4.294000	0.59043	2.404000	0.81709	0.594000	0.82650	.		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573	Intron	6	202	1	0	2.7689e-08	1	2.99401e-08	6	202					A	153940503	C	A	153940503	5	1	412	1	0	0	0	0	0	0	1	0	6150	521	18	4	721	4	GAB3	23	153940503	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	4112314	153940503	1330057	107	35906											
PADI3	51702	broad.mit.edu	37	chr1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtcatggtcctgcggaCgcagggccctgcagccctct	13	15	3	0	rs146396025	byFrequency	TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					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)	GTCCTGCGGACGCAGGGCCCT	0.577																																						ENST00000375460.3																			0				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						c.(559-561)aCg>aTg		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	121	97	105		560	4.5	1	1	dbSNP_134	105	0,8600		0,0,4300	yes	missense	PADI3	NM_016233.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	187/665	17594365	1,13005	2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17594365C>T	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.560C>T	1.37:g.17594365C>T	ENSP00000364609:p.Thr187Met						p.T187M	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		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)	6	600	+		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)	187					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.560C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610427	0.46527	2.27E-4	0.0	ENSG00000142619	ENST00000375460	T	0.20881	2.04	5.42	4.51	0.55191	Protein-arginine deiminase (PAD), central domain (2);	0.095886	0.64402	D	0.000001	T	0.20414	0.0491	M	0.69523	2.12	0.43368	D	0.995455	P	0.39903	0.694	B	0.30572	0.117	T	0.03875	-1.0996	10	0.54805	T	0.06	-32.8818	9.5284	0.39178	0.0:0.838:0.0:0.162	.	187	Q9ULW8	PADI3_HUMAN	M	187	ENSP00000364609:T187M	ENSP00000364609:T187M	T	+	2	0	PADI3	17466952	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	4.641000	0.61375	1.300000	0.44818	-0.224000	0.12420	ACG		0.577	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			23	37	0	0	0	1	0	23	37					T	17594365	C	T	17594365	3	4	413	1	0	0	0	0	1	0	0	0	11379	536	19	1	582	1	PADI3	1	17594365	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		17594365	231656256	1	35907											
MAEL	84944	broad.mit.edu	37	chr1	166987180	166987180	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acccaaaatggttgtattggAtgcagggcgttaccaggtaa	12	7	0	0			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:166987180A>T	ENST00000367872.4	+	10	1269	c.1025A>T	c.(1024-1026)gAt>gTt	p.D342V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.D311V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	342					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTTGTATTGGATGCAGGGCGT	0.458																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1024-1026)gAt>gTt		maelstrom spermatogenic transposon silencer							153	129	137					1																	166987180		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166987180A>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1025A>T	1.37:g.166987180A>T	ENSP00000356846:p.Asp342Val					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.D311V	p.D342V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			10	1269	+			342					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1025A>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755338	0.69648	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.59772	0.24;0.28;0.25	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000009	T	0.55909	0.1950	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63994	-0.6511	10	0.72032	D	0.01	.	12.0145	0.53307	1.0:0.0:0.0:0.0	.	311;342	E9JVC3;Q96JY0	.;MAEL_HUMAN	V	342;311;311;64	ENSP00000356846:D342V;ENSP00000356844:D311V;ENSP00000402143:D311V	ENSP00000356844:D311V	D	+	2	0	MAEL	165253804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.862000	0.62976	2.098000	0.63641	0.454000	0.30748	GAT		0.458	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		7	67	0	0	0	1	0	7	67					T	166987180	A	T	166987180	3	4	413	1	0	0	0	0	1	0	0	0	9154	333	12	5	1063	5	MAEL	1	166987180	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08	149392815	166987180	82263441	2	35908											
OR11L1	391189	broad.mit.edu	37	chr1	248004293	248004293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttccttctcatgaccttTctaacagcttctttgaagtc	4	12	3	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:248004293T>C	ENST00000355784.2	-	1	961	c.906A>G	c.(904-906)agA>agG	p.R302R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	302						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGACCTTTCTAACAGCTT	0.373																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(904-906)agA>agG		olfactory receptor, family 11, subfamily L, member 1							90	86	87					1																	248004293		2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004293T>C	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.906A>G	1.37:g.248004293T>C							p.R302R	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	961	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		302						Silent	SNP	ENST00000355784.2	37	c.906A>G	CCDS31098.1																																																																																				0.373	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		25	48	0	0	0	1	0	25	48					C	248004293	T	C	248004293	2	2	413	1	0	0	0	0	0	0	0	1	10930	1780	62	3		3	OR11L1	1	248004293	Silent	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08	81017113	248004293	1246328	3	35909											
MFSD2B	388931	broad.mit.edu	37	chr2	24240178	24240178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggtgccctacacagCgctcaccatgctgctgactc	8	17	1	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:24240178C>T	ENST00000406420.3	+	5	510	c.494C>T	c.(493-495)gCg>gTg	p.A165V	MFSD2B_ENST00000338315.4_Missense_Mutation_p.A165V	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	165					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCTACACAGCGCTCACCATG	0.667																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(493-495)gCg>gTg		major facilitator superfamily domain containing 2B							16	19	18					2																	24240178		2134	4239	6373	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24240178C>T		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.494C>T	2.37:g.24240178C>T	ENSP00000385527:p.Ala165Val					MFSD2B_ENST00000406420.3_Missense_Mutation_p.A165V	p.A165V			A6NFX1	MFS2B_HUMAN			5	494	+			165					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.494C>T	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853850	0.91355	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.89746	-2.56;-2.56	4.12	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);	0.063138	0.64402	U	0.000006	D	0.93337	0.7876	M	0.75777	2.31	0.58432	D	0.99999	D	0.71674	0.998	D	0.65323	0.934	D	0.94379	0.7603	10	0.87932	D	0	-23.0181	15.5218	0.75871	0.0:1.0:0.0:0.0	.	165	A6NFX1	MFS2B_HUMAN	V	165	ENSP00000385527:A165V;ENSP00000342501:A165V	ENSP00000342501:A165V	A	+	2	0	MFSD2B	24093682	1.000000	0.71417	0.952000	0.39060	0.719000	0.41307	5.343000	0.65976	2.034000	0.60081	0.511000	0.50034	GCG		0.667	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		2	2	0	0	0	1	0	2	2					T	24240178	C	T	24240178	3	4	413	1	0	0	0	0	1	0	0	0	9531	768	27	1	512	1	MFSD2B	2	24240178	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		24240178	218959195	4	35910											
LRP1B	53353	broad.mit.edu	37	chr2	141986794	141986794	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattgtccattcatctgttaAtcctcctgcttttgttatct	5	10	3	0			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:141986794A>G	ENST00000389484.3	-	6	1779	c.808T>C	c.(808-810)Tta>Cta	p.L270L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	270					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)		TCATCTGTTAATCCTCCTGCT	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(808-810)Tta>Cta		low density lipoprotein receptor-related protein 1B							123	123	123					2																	141986794		2202	4300	6502	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986794A>G	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.808T>C	2.37:g.141986794A>G		TSP Lung(27;0.18)					p.L270L	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	6	1779	-		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)	270					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.808T>C	CCDS2182.1																																																																																				0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	81	0	0	0	1	0	5	81					G	141986794	A	G	141986794	2	3	413	1	0	0	0	0	0	0	0	1	8955	98	4	3		3	LRP1B	2	141986794	Silent	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08	117746616	141986794	101212579	5	35911											
TTN	7273	broad.mit.edu	37	chr2	179466815	179466815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcaggaatcctaatctGtgagccagctttacaaacca	8	11	1	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:179466815G>A	ENST00000591111.1	-	234	50484	c.50260C>T	c.(50260-50262)Cag>Tag	p.Q16754*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Q9455*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q9330*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q9522*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q15827*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q18395*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16754	Ig-like 101.				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)			ATCCTAATCTGTGAGCCAGCT	0.413																																						ENST00000589042.1																			0				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						c.(55183-55185)Cag>Tag		titin							130	125	127					2																	179466815		1902	4120	6022	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466815G>A	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.50260C>T	2.37:g.179466815G>A	ENSP00000465570:p.Gln16754*					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q9330*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q9522*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q15827*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q9455*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q16754*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.Q18395*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	55407	-			16754			Fibronectin type-III 33.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.55183C>T		.	.	.	.	.	.	.	.	.	.	G	60	44.793502	0.99986	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.1261	0.42649	0.0:0.1117:0.6303:0.258	.	.	.	.	X	15827;9330;9522;9455;9330	.	ENSP00000340554:Q9522X	Q	-	1	0	TTN	179175060	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.621000	0.61233	1.559000	0.49555	-0.176000	0.13171	CAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	72	0	0	0	1	0	10	72					A	179466815	G	A	179466815	4	1	413	1	0	0	0	0	0	1	0	0	16732	1386	48	2	52826	2	TTN	2	179466815	Nonsense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08	37480021	179466815	63732558	6	35912											
ITGA4	3676	broad.mit.edu	37	chr2	182359504	182359504	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatgtttggacagtctatatCaggacaaattgatgcagata	9	5	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:182359504C>G	ENST00000397033.2	+	12	1734	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	435					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)	CAGTCTATATCAGGACAAATT	0.308																																						ENST00000397033.2																			0				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						c.(1303-1305)tCa>tGa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						159	149	152					2																	182359504		1826	4086	5912	SO:0001587	stop_gained	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182359504C>G		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.1304C>G	2.37:g.182359504C>G	ENSP00000380227:p.Ser435*						p.S435*	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		12	1734	+			435					D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	ENST00000397033.2	37	c.1304C>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	39	7.896329	0.98548	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.83	5.83	0.93111	.	0.295259	0.34046	N	0.004310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.126	0.97982	0.0:1.0:0.0:0.0	.	.	.	.	X	435	.	ENSP00000233573:S435X	S	+	2	0	ITGA4	182067749	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.634000	0.67833	2.749000	0.94314	0.655000	0.94253	TCA		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	129	0	0	0	1	0	4	129					G	182359504	C	G	182359504	4	3	413	1	0	0	0	0	0	1	0	0	7878	838	29	4	1350	4	ITGA4	2	182359504	Nonsense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	2892689	182359504	60839869	7	35913											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	42	0	0	0	1	0	19	42					T	209113112	C	T	209113112	3	4	413	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	26753608	209113112	34086261	8	35914											
AFF4	27125	broad.mit.edu	37	chr5	132270106	132270106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaatcccagtttgcAtcagggtcccgaggtgattt	13	8	1	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr5:132270106A>C	ENST00000265343.5	-	3	1030	c.651T>G	c.(649-651)gaT>gaG	p.D217E	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.D217E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	217	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTTGCATCAGGGTCCC	0.463																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(649-651)gaT>gaG		AF4/FMR2 family, member 4							116	109	112					5																	132270106		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270106A>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.651T>G	5.37:g.132270106A>C	ENSP00000265343:p.Asp217Glu					AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.D217E	p.D217E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1030	-		all_cancers(142;0.145)|Breast(839;0.198)	217			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.651T>G	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	A	4.826	0.153585	0.09185	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.60548	0.18;0.18	5.72	4.49	0.54785	.	0.091207	0.85682	D	0.000000	T	0.32041	0.0816	N	0.05554	-0.025	0.37754	D	0.926066	B;B;B	0.14012	0.005;0.009;0.001	B;B;B	0.16722	0.01;0.016;0.003	T	0.26710	-1.0095	10	0.02654	T	1	-11.6615	12.4841	0.55861	0.7499:0.2501:0.0:0.0	.	217;217;217	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	E	217	ENSP00000265343:D217E;ENSP00000367858:D217E	ENSP00000265343:D217E	D	-	3	2	AFF4	132298005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.305000	0.33493	2.183000	0.69458	0.455000	0.32223	GAT		0.463	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		4	80	0	0	0	1	0	4	80					C	132270106	A	C	132270106	3	2	413	1	0	0	0	0	1	0	0	0	359	214	8	5	2916	5	AFF4	5	132270106	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		132270106	48645154	9	35915											
SLC25A27	9481	broad.mit.edu	37	chr6	46637948	46637948	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagaataatgaatcaaccaCgagataaacaaggaaggtag	10	6	1	3			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr6:46637948C>A	ENST00000371347.5	+	7	1033	c.781C>A	c.(781-783)Cga>Aga	p.R261R	SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000434329.2_RNA|SLC25A27_ENST00000452689.2_Silent_p.R175R|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	261					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCAACCACGAGATAAACA	0.328																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(781-783)Cga>Aga		solute carrier family 25, member 27							77	73	74					6																	46637948		1830	4084	5914	SO:0001819	synonymous_variant	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46637948C>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"Solute carriers"	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.781C>A	6.37:g.46637948C>A						SLC25A27_ENST00000452689.2_Silent_p.R175R|SLC25A27_ENST00000411689.2_Intron	p.R261R	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		7	1033	+			261					F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	37	c.781C>A	CCDS43470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.043|9.043	0.990270|0.990270	0.18966|0.18966	.|.	.|.	ENSG00000153291|ENSG00000153291	ENST00000417490|ENST00000444329	.|.	.|.	.|.	5.72|5.72	3.71|3.71	0.42584|0.42584	.|.	.|.	.|.	.|.	.|.	T|T	0.50188|0.50188	0.1601|0.1601	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49133|0.49133	-0.8971|-0.8971	4|4	.|.	.|.	.|.	-15.6505|-15.6505	12.1|12.1	0.53778|0.53778	0.3477:0.6523:0.0:0.0|0.3477:0.6523:0.0:0.0	.|.	.|.	.|.	.|.	Q|K	58|105	.|.	.|.	H|T	+|+	3|2	2|0	SLC25A27|SLC25A27	46745907|46745907	0.989000|0.989000	0.36119|0.36119	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	1.626000|1.626000	0.37039|0.37039	0.690000|0.690000	0.31570|0.31570	0.655000|0.655000	0.94253|0.94253	CAC|ACG		0.328	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		3	30	1	0	1	1	1	3	30					A	46637948	C	A	46637948	2	1	413	1	0	0	0	0	0	0	0	1	14490	528	19	4		4	SLC25A27	6	46637948	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		46637948	124477119	10	35916											
UBN2	254048	broad.mit.edu	37	chr7	138946218	138946218	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccggacttaaatctgagcAgcggtgatccagaccttccc	9	14	1	3			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:138946218A>T	ENST00000473989.3	+	6	1126	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	UBN2_ENST00000288561.8_Missense_Mutation_p.S293C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	376						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAATCTGAGCAGCGGTGATCC	0.478																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(877-879)Agc>Tgc		ubinuclein 2							91	89	90					7																	138946218		1907	4119	6026	SO:0001583	missense	254048							g.chr7:138946218A>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1126A>T	7.37:g.138946218A>T	ENSP00000418648:p.Ser376Cys					UBN2_ENST00000473989.2_Missense_Mutation_p.S376C	p.S293C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			6	1126	+			376			Lys-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.877A>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859258	0.32884	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.25085	1.82;1.82	5.55	4.4	0.53042	.	0.335396	0.36303	N	0.002668	T	0.20577	0.0495	L	0.36672	1.1	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.08186	-1.0734	9	.	.	.	-4.4342	8.7042	0.34345	0.8553:0.0:0.1447:0.0	.	376	Q6ZU65	UBN2_HUMAN	C	376;293	ENSP00000418648:S376C;ENSP00000288561:S293C	.	S	+	1	0	UBN2	138596758	0.105000	0.21958	0.013000	0.15412	0.095000	0.18619	1.838000	0.39211	1.127000	0.42034	0.533000	0.62120	AGC		0.478	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		42	49	0	0	0	1	0	42	49					T	138946218	A	T	138946218	3	4	413	1	0	0	0	0	1	0	0	0	16890	188	7	5	1148	5	UBN2	7	138946218	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		138946218	20192445	11	35917											
PRSS2	154754	broad.mit.edu	37	chr7	142481346	142481346	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggcaccgagtgcctTatctccggctggggcaatac	13	13	1	0	rs200370045		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:142481346T>C	ENST00000603901.1	+	0	420					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CCGAGTGCCTTATCTCCGGCT	0.567																																						ENST00000603901.1																			0																				99	75	83					7																	142481346		688	1513	2201			0							g.chr7:142481346T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481346T>C								NR_001296.3						0	420	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	21	0	0	0	1	0	3	21					C	142481346	T	C	142481346	1	2	413	0	1	0	0	0	0	0	0	0	12617	1741	61	3		3	PRSS2	7	142481346	RNA	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08	3535128	142481346	16657317	12	35918											
PDIA4	9601	broad.mit.edu	37	chr7	148701035	148701035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtggggaagccctccaCcttatagcggtcgctgggga	16	10	0	0			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:148701035C>T	ENST00000286091.4	-	10	2021	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	597	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGCCCTCCACCTTATAGCGG	0.552																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1789-1791)Gtg>Atg		protein disulfide isomerase family A, member 4							90	92	91					7																	148701035		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701035C>T	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1789G>A	7.37:g.148701035C>T	ENSP00000286091:p.Val597Met						p.V597M	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	2021	-	Melanoma(164;0.15)		597			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1789G>A	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677409	0.88445	.	.	ENSG00000155660	ENST00000286091	T	0.08008	3.14	5.81	5.81	0.92471	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.192438	0.46442	D	0.000296	T	0.43853	0.1266	H	0.95224	3.64	0.58432	D	0.999998	P	0.50443	0.935	D	0.66196	0.942	T	0.57406	-0.7817	10	0.87932	D	0	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	597	P13667	PDIA4_HUMAN	M	597	ENSP00000286091:V597M	ENSP00000286091:V597M	V	-	1	0	PDIA4	148331968	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.731000	0.62022	2.751000	0.94390	0.555000	0.69702	GTG		0.552	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		14	31	0	0	0	1	0	14	31					T	148701035	C	T	148701035	3	4	413	1	0	0	0	0	1	0	0	0	11670	507	18	2	152	2	PDIA4	7	148701035	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	6219689	148701035	10437628	13	35919											
GDF6	392255	broad.mit.edu	37	chr8	97157052	97157052	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcgcgataatccagtcGtcccagcccagctccttgaa	11	14	0	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr8:97157052G>A	ENST00000287020.5	-	2	1206	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	369					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TAATCCAGTCGTCCCAGCCCA	0.637																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1105-1107)gaC>gaT		growth differentiation factor 6							93	78	83					8																	97157052		2203	4300	6503	SO:0001819	synonymous_variant	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157052G>A		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1107C>T	8.37:g.97157052G>A							p.D369D	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1206	-	Breast(36;2.67e-05)		369					Q6PI58	Silent	SNP	ENST00000287020.5	37	c.1107C>T	CCDS34926.1																																																																																				0.637	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		7	17	0	0	0	1	0	7	17					A	97157052	G	A	97157052	2	1	413	1	0	0	0	0	0	0	0	1	6317	1136	40	1		1	GDF6	8	97157052	Silent	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		97157052	49206970	14	35920											
PARD3	56288	broad.mit.edu	37	chr10	34558691	34558691	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtctagcgttgagagccaTggaaccttcataagaagaaa	11	7	2	3			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr10:34558691T>C	ENST00000374789.3	-	22	3647	c.3322A>G	c.(3322-3324)Atg>Gtg	p.M1108V	PARD3_ENST00000346874.4_Missense_Mutation_p.M1071V|PARD3_ENST00000374794.3_Missense_Mutation_p.M996V|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000545260.1_Missense_Mutation_p.M1018V|PARD3_ENST00000545693.1_Missense_Mutation_p.M1092V|PARD3_ENST00000374788.3_Missense_Mutation_p.M1105V|PARD3_ENST00000374790.3_Missense_Mutation_p.M1048V|PARD3_ENST00000350537.4_Missense_Mutation_p.M1062V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1108					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)			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)				TTGAGAGCCATGGAACCTTCA	0.473																																						ENST00000374789.3																			0				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						c.(3322-3324)Atg>Gtg		par-3 family cell polarity regulator							102	93	96					10																	34558691		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34558691T>C	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.3322A>G	10.37:g.34558691T>C	ENSP00000363921:p.Met1108Val					PARD3_ENST00000374794.3_Missense_Mutation_p.M996V|PARD3_ENST00000374790.3_Missense_Mutation_p.M1048V|PARD3_ENST00000545260.1_Missense_Mutation_p.M1018V|PARD3_ENST00000545693.1_Missense_Mutation_p.M1092V|PARD3_ENST00000374788.3_Missense_Mutation_p.M1105V|PARD3_ENST00000346874.4_Missense_Mutation_p.M1071V|PARD3_ENST00000350537.4_Missense_Mutation_p.M1062V	p.M1108V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			22	3647	-		Breast(68;0.0707)	1108					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	ENST00000374789.3	37	c.3322A>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	T	7.357	0.624150	0.14193	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;2.83;2.78;1.6;1.6	5.78	-10.7	0.00240	.	0.965426	0.08633	N	0.916673	T	0.12092	0.0294	N	0.22421	0.69	0.42816	D	0.993977	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;0.001;0.001;0.001;0.001;0.001;0.0	T	0.09357	-1.0678	10	0.18710	T	0.47	.	3.9256	0.09262	0.1391:0.2751:0.4333:0.1525	.	996;1018;1025;1062;1092;1071;1105;1108	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	V	1092;1018;1108;1105;1071;996;1062;1048	ENSP00000443147:M1092V;ENSP00000440857:M1018V;ENSP00000363921:M1108V;ENSP00000363920:M1105V;ENSP00000340591:M1071V;ENSP00000363926:M996V;ENSP00000311986:M1062V;ENSP00000363922:M1048V	ENSP00000340591:M1071V	M	-	1	0	PARD3	34598697	0.002000	0.14202	0.001000	0.08648	0.898000	0.52572	-1.012000	0.03649	-1.974000	0.00998	-0.438000	0.05819	ATG		0.473	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		11	32	0	0	0	1	0	11	32					C	34558691	T	C	34558691	3	2	413	1	0	0	0	0	1	0	0	0	11443	1464	51	3	764	3	PARD3	10	34558691	Missense_Mutation	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08		34558691	100976056	15	35921											
COMMD9	29099	broad.mit.edu	37	chr11	36302379	36302379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtctgacaacatctttCgaggaggcctatgaattaaa	9	8	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr11:36302379C>T	ENST00000263401.5	-	2	76	c.60G>A	c.(58-60)tcG>tcA	p.S20S	COMMD9_ENST00000532705.1_Silent_p.S20S|COMMD9_ENST00000452374.2_Intron	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	20										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CAACATCTTTCGAGGAGGCCT	0.383																																						ENST00000263401.5																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5						c.(58-60)tcG>tcA		COMM domain containing 9							56	58	58					11																	36302379		2202	4298	6500	SO:0001819	synonymous_variant	29099							g.chr11:36302379C>T	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.60G>A	11.37:g.36302379C>T						COMMD9_ENST00000452374.2_Intron|COMMD9_ENST00000532705.1_Silent_p.S20S	p.S20S	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN			2	76	-	all_lung(20;0.211)	all_hematologic(20;0.107)	20					E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	ENST00000263401.5	37	c.60G>A	CCDS7900.1																																																																																				0.383	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		19	20	0	0	0	1	0	19	20					T	36302379	C	T	36302379	2	4	413	1	0	0	0	0	0	0	0	1	3723	871	31	1		1	COMMD9	11	36302379	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		36302379	98704137	16	35922											
STAT2	6773	broad.mit.edu	37	chr12	56743287	56743287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagttcctctgtcacacctaGtggcccctgggacagccaaa	9	15	2	0			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr12:56743287G>C	ENST00000314128.4	-	15	1287	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Missense_Mutation_p.L418V|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Missense_Mutation_p.L418V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	422					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)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTCACACCTAGTGGCCCCTGG	0.527																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1264-1266)Cta>Gta		signal transducer and activator of transcription 2, 113kDa							162	156	158					12																	56743287		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56743287G>C	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.1264C>G	12.37:g.56743287G>C	ENSP00000315768:p.Leu422Val					STAT2_ENST00000557235.1_Missense_Mutation_p.L418V|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Missense_Mutation_p.L418V	p.L422V			P52630	STAT2_HUMAN			15	1287	-			422					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1264C>G	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370496	0.95900	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	D;D;D	0.88124	-2.34;-2.34;-2.34	5.36	4.45	0.53987	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.90215	0.6941	L	0.48986	1.54	0.58432	D	0.999998	D;P;D	0.89917	1.0;0.849;0.999	D;P;D	0.75020	0.985;0.623;0.965	D	0.88169	0.2863	10	0.27785	T	0.31	-6.81	13.3429	0.60555	0.0:0.0:0.8408:0.1592	.	418;418;422	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	V	422;418;224;418	ENSP00000315768:L422V;ENSP00000450751:L418V;ENSP00000387354:L418V	ENSP00000315768:L422V	L	-	1	2	STAT2	55029554	1.000000	0.71417	0.085000	0.20634	0.974000	0.67602	6.095000	0.71439	1.351000	0.45789	0.563000	0.77884	CTA		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		7	159	0	0	0	1	0	7	159					C	56743287	G	C	56743287	3	2	413	1	0	0	0	0	1	0	0	0	15264	1020	36	4	1331	4	STAT2	12	56743287	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		56743287	77108608	17	35923											
MOAP1	64112	broad.mit.edu	37	chr14	93650096	93650096	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgagaacactctcagCtttttatacttcaagcattg	6	12	2	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:93650096C>G	ENST00000556883.1	-	2	976	c.492G>C	c.(490-492)aaG>aaC	p.K164N	MOAP1_ENST00000298894.4_Missense_Mutation_p.K164N|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	164					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		acactctcagctttttatact	0.517																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(490-492)aaG>aaC		modulator of apoptosis 1							75	80	79					14																	93650096		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650096C>G	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.492G>C	14.37:g.93650096C>G	ENSP00000451594:p.Lys164Asn					MOAP1_ENST00000298894.4_Missense_Mutation_p.K164N	p.K164N			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	976	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	164					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.492G>C	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846018	0.32606	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10860	2.83;2.83	3.78	1.97	0.26223	.	.	.	.	.	T	0.16085	0.0387	L	0.28649	0.875	0.28417	N	0.917895	D	0.71674	0.998	D	0.66979	0.948	T	0.10753	-1.0616	9	0.38643	T	0.18	3.2871	6.0892	0.19985	0.0:0.7696:0.0:0.2304	.	164	Q96BY2	MOAP1_HUMAN	N	164	ENSP00000298894:K164N;ENSP00000451594:K164N	ENSP00000298894:K164N	K	-	3	2	MOAP1	92719849	0.996000	0.38824	0.999000	0.59377	0.215000	0.24574	0.043000	0.13971	0.590000	0.29694	0.650000	0.86243	AAG		0.517	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			27	67	0	0	0	1	0	27	67					G	93650096	C	G	93650096	3	3	413	1	0	0	0	0	1	0	0	0	9680	796	28	4	567	4	MOAP1	14	93650096	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		93650096	13699444	18	35924											
BCL11B	64919	broad.mit.edu	37	chr14	99641152	99641152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggggctgggcagcggcGcgggcttgcgcgggaagagc	22	12	0	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:99641152G>A	ENST00000357195.3	-	4	2030	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	BCL11B_ENST00000443726.2_Missense_Mutation_p.A480V|BCL11B_ENST00000345514.2_Missense_Mutation_p.A603V	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	674					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGCAGCGGCGCGGGCTTGCG	0.776			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1807-1809)gCg>gTg		B-cell CLL/lymphoma 11B (zinc finger protein)							8	9	9					14																	99641152		1962	3882	5844	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641152G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2021C>T	14.37:g.99641152G>A	ENSP00000349723:p.Ala674Val					BCL11B_ENST00000443726.2_Missense_Mutation_p.A480V|BCL11B_ENST00000357195.3_Missense_Mutation_p.A674V	p.A603V	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2074	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	674			Gly-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1808C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213158	0.39102	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.11385	2.8;2.81;2.78	3.95	3.95	0.45737	.	0.624309	0.14520	N	0.314527	T	0.05960	0.0155	N	0.08118	0	0.38343	D	0.944122	B;B	0.27192	0.009;0.171	B;B	0.23018	0.021;0.043	T	0.34329	-0.9833	10	0.46703	T	0.11	-8.0723	10.1367	0.42710	0.0946:0.0:0.9054:0.0	.	603;674	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	V	674;603;480	ENSP00000349723:A674V;ENSP00000280435:A603V;ENSP00000387419:A480V	ENSP00000280435:A603V	A	-	2	0	BCL11B	98710905	1.000000	0.71417	0.983000	0.44433	0.940000	0.58332	5.689000	0.68234	1.907000	0.55213	0.561000	0.74099	GCG		0.776	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		11	8	0	0	0	1	0	11	8					A	99641152	G	A	99641152	3	1	413	1	0	0	0	0	1	0	0	0	1364	1087	38	1	667	1	BCL11B	14	99641152	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08	5991056	99641152	7708388	19	35925											
CDC42BPB	9578	broad.mit.edu	37	chr14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagccggttacctgtgcaCgtaatgaagctgatggatgg	14	7	0	3	rs147856179		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20030	0.0		0.001	False		,,,				2504	0.0					ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(589-591)Gtg>Atg		CDC42 binding protein kinase beta (DMPK-like)							123	113	116					14																	103465909		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103465909C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.589G>A	14.37:g.103465909C>T	ENSP00000355237:p.Val197Met						p.V197M	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	5	877	-		Melanoma(154;0.155)	197			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.589G>A	CCDS9978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.70	3.876263	0.72180	.	.	ENSG00000198752	ENST00000361246	T	0.49720	0.77	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);	0.061993	0.64402	D	0.000004	T	0.69106	0.3074	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73142	-0.4076	10	0.87932	D	0	.	18.5862	0.91189	0.0:1.0:0.0:0.0	.	197	Q9Y5S2	MRCKB_HUMAN	M	197	ENSP00000355237:V197M	ENSP00000355237:V197M	V	-	1	0	CDC42BPB	102535662	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	4.816000	0.62642	2.465000	0.83290	0.655000	0.94253	GTG		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		44	60	0	0	0	1	0	44	60					T	103465909	C	T	103465909	3	4	413	1	0	0	0	0	1	0	0	0	3073	536	19	1	4678	1	CDC42BPB	14	103465909	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	3824757	103465909	3883631	20	35926											
SCNN1B	6338	broad.mit.edu	37	chr16	23383131	23383131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggggagccctacagccCgtgcaccgtgaatggttctg	14	12	1	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:23383131C>T	ENST00000343070.2	+	7	1255	c.1079C>T	c.(1078-1080)cCg>cTg	p.P360L	SCNN1B_ENST00000568923.1_Missense_Mutation_p.P333L|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P405L|SCNN1B_ENST00000568085.1_Intron	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	360					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)	CCCTACAGCCCGTGCACCGTG	0.587																																						ENST00000343070.2																			0				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						c.(1078-1080)cCg>cTg		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						168	152	157					16																	23383131		2197	4300	6497	SO:0001583	missense	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23383131C>T	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.1079C>T	16.37:g.23383131C>T	ENSP00000345751:p.Pro360Leu					SCNN1B_ENST00000307331.5_Missense_Mutation_p.P405L|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P333L	p.P360L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	7	1255	+			360					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1079C>T	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	C	8.676	0.904004	0.17760	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.62788	0.0;0.0	4.64	-0.126	0.13515	.	0.730444	0.13376	N	0.392516	T	0.45013	0.1321	N	0.24115	0.695	0.35625	D	0.809781	B	0.24920	0.114	B	0.24394	0.053	T	0.40664	-0.9551	10	0.66056	D	0.02	-24.9388	8.9264	0.35643	0.5986:0.3174:0.084:0.0	.	360	P51168	SCNNB_HUMAN	L	360;405	ENSP00000345751:P360L;ENSP00000302874:P405L	ENSP00000302874:P405L	P	+	2	0	SCNN1B	23290632	0.611000	0.26992	0.777000	0.31699	0.073000	0.16967	1.034000	0.30204	-0.197000	0.10350	-0.268000	0.10319	CCG		0.587	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			34	85	0	0	0	1	0	34	85					T	23383131	C	T	23383131	3	4	413	1	0	0	0	0	1	0	0	0	13928	652	23	1	1101	1	SCNN1B	16	23383131	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		23383131	66971622	21	35927											
SRCAP	10847	broad.mit.edu	37	chr16	30735046	30735046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctacagtctcagttcCattgtcatcttcactcccca	4	16	5	0			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:30735046C>T	ENST00000262518.4	+	25	4686	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1372L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1276L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1434	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)			GTCTCAGTTCCATTGTCATCT	0.582																																						ENST00000262518.4																			0				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						c.(4300-4302)cCa>cTa		Snf2-related CREBBP activator protein							300	256	271					16																	30735046		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735046C>T	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.4301C>T	16.37:g.30735046C>T	ENSP00000262518:p.Pro1434Leu					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1372L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1276L	p.P1434L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4686	+			1434			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4301C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529266	0.27387	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94897	-3.55;-2.98;-3.08	5.13	5.13	0.70059	.	0.124725	0.37012	N	0.002292	D	0.93281	0.7859	N	0.14661	0.345	0.50813	D	0.999892	P;D;D	0.63046	0.934;0.992;0.986	P;P;P	0.59357	0.559;0.856;0.722	D	0.94532	0.7737	10	0.87932	D	0	-1.0671	16.1066	0.81225	0.0:1.0:0.0:0.0	.	1276;1372;1434	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	L	1434;1372;1276	ENSP00000262518:P1434L;ENSP00000378499:P1372L;ENSP00000343042:P1276L	ENSP00000262518:P1434L	P	+	2	0	SRCAP	30642547	0.050000	0.20438	0.786000	0.31890	0.320000	0.28249	3.112000	0.50368	2.658000	0.90341	0.557000	0.71058	CCA		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		5	197	0	0	0	1	0	5	197					T	30735046	C	T	30735046	3	4	413	1	0	0	0	0	1	0	0	0	15134	594	21	2	4391	2	SRCAP	16	30735046	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	7351915	30735046	59619707	22	35928											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	10	0	0	0	1	0	28	10					C	7578190	T	C	7578190	3	2	413	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08		7578190	73617020	23	35929											
GRB7	2886	broad.mit.edu	37	chr17	37902419	37902419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgtcctctctttgtgCcacctgcagaaagtgaagca	10	11	1	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:37902419C>T	ENST00000309156.4	+	14	1673	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	GRB7_ENST00000309185.3_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587																																						ENST00000309185.3																			1	Substitution - coding silent(1)	p.C472C(1)	urinary_tract(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1327-1329)gCc>gTc		growth factor receptor-bound protein 7							148	134	139					17																	37902419		2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902419C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1416C>T	17.37:g.37902419C>T						GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309156.4_Silent_p.C472C	p.A443V			Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1578	+	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)		0			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1328C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.186042	0.78789	.	.	ENSG00000141738	ENST00000309185;ENST00000394204	T;T	0.56444	0.46;0.46	5.18	0.888	0.19206	.	.	.	.	.	T	0.41465	0.1160	.	.	.	0.24777	N	0.992835	B	0.12013	0.005	B	0.11329	0.006	T	0.40232	-0.9574	8	0.87932	D	0	-27.1618	9.4523	0.38734	0.0:0.6232:0.0:0.3768	.	443	Q14451-2	.	V	443	ENSP00000311752:A443V;ENSP00000377754:A443V	ENSP00000311752:A443V	A	+	2	0	GRB7	35155945	0.969000	0.33509	1.000000	0.80357	0.916000	0.54674	0.215000	0.17562	0.224000	0.20940	-0.974000	0.02594	GCC		0.587	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		5	129	0	0	0	1	0	5	129					T	37902419	C	T	37902419	2	4	413	1	0	0	0	0	0	0	0	1	6759	747	26	2		2	GRB7	17	37902419	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	30324229	37902419	43292791	24	35930											
HOXB3	3213	broad.mit.edu	37	chr17	46629478	46629478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagggtggagttggtgCcgggaccgcactttggggga	21	6	0	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:46629478C>A	ENST00000470495.1	-	1	1806	c.359G>T	c.(358-360)gGc>gTc	p.G120V	HOXB3_ENST00000489475.1_Missense_Mutation_p.G47V|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120V|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120V|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120V			P14651	HXB3_HUMAN	homeobox B3	120					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGTTGGTGCCGGGACCGCA	0.597																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(358-360)gGc>gTc		homeobox B3							192	214	207					17																	46629478		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629478C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.359G>T	17.37:g.46629478C>A	ENSP00000417207:p.Gly120Val					HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.G47V|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120V|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47V	p.G120V			P14651	HXB3_HUMAN			1	1806	-			120					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.359G>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612389	0.28712	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000489475;ENST00000476342;ENST00000471459	D;D;D;D;D;D;T	0.91124	-2.79;-2.74;-2.79;-2.79;-2.74;-2.79;1.52	4.11	4.11	0.48088	.	0.664559	0.14452	U	0.318738	D	0.85513	0.5714	L	0.31926	0.97	0.80722	D	1	P	0.37423	0.594	B	0.35413	0.202	T	0.83184	-0.0087	10	0.23302	T	0.38	.	16.8769	0.86054	0.0:1.0:0.0:0.0	.	120	P14651	HXB3_HUMAN	V	120;47;120;120;47;120;47	ENSP00000417207:G120V;ENSP00000419676:G47V;ENSP00000308252:G120V;ENSP00000420595:G120V;ENSP00000418729:G47V;ENSP00000418892:G120V;ENSP00000417400:G47V	ENSP00000308252:G120V	G	-	2	0	HOXB3	43984477	0.979000	0.34478	0.998000	0.56505	0.873000	0.50193	2.563000	0.45922	2.304000	0.77564	0.484000	0.47621	GGC		0.597	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			151	202	1	0	3.7336e-74	1	3.90331e-74	151	202					A	46629478	C	A	46629478	3	1	413	1	0	0	0	0	1	0	0	0	7302	739	26	4	944	4	HOXB3	17	46629478	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	8727059	46629478	34565732	25	35931											
CEP192	55125	broad.mit.edu	37	chr18	13114159	13114159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaatgagcctgaaaacGcatgcctttccacggattcc	8	12	0	3	rs373578111		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr18:13114159G>A	ENST00000325971.8	+	40	7003	c.5410G>A	c.(5410-5412)Gca>Aca	p.A1804T	CEP192_ENST00000506447.1_Missense_Mutation_p.A2400T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A1925T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1804					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						GCCTGAAAACGCATGCCTTTC	0.388																																						ENST00000506447.1																			0				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						c.(7198-7200)Gca>Aca		centrosomal protein 192kDa		G	THR/ALA	0,4406		0,0,2203	132	130	131		7198	-6.6	0	18		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP192	NM_032142.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	2400/2538	13114159	1,13005	2203	4300	6503	SO:0001583	missense	55125							g.chr18:13114159G>A	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.5410G>A	18.37:g.13114159G>A	ENSP00000317156:p.Ala1804Thr					CEP192_ENST00000325971.8_Missense_Mutation_p.A1804T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A1925T	p.A2400T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			42	7278	+			1995					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7198G>A		.	.	.	.	.	.	.	.	.	.	G	11.33	1.606697	0.28623	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06294	3.32;3.32;3.32	5.08	-6.57	0.01842	.	0.591809	0.17679	N	0.165692	T	0.02494	0.0076	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.24132	0.098;0.098;0.032;0.028	B;B;B;B	0.12837	0.008;0.008;0.003;0.003	T	0.34800	-0.9814	10	0.26408	T	0.33	-0.026	2.147	0.03790	0.1495:0.2549:0.3607:0.235	.	1925;2400;404;1002	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	T	2400;1804;1804;1925;404	ENSP00000427550:A2400T;ENSP00000317156:A1804T;ENSP00000389190:A1925T	ENSP00000317156:A1804T	A	+	1	0	CEP192	13104159	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.340000	0.07821	-1.107000	0.03004	0.455000	0.32223	GCA		0.388	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		4	179	0	0	0	1	0	4	179					A	13114159	G	A	13114159	3	1	413	1	0	0	0	0	1	0	0	0	3251	1087	38	1	7360	1	CEP192	18	13114159	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		13114159	64963089	26	35932											
USP25	29761	broad.mit.edu	37	chr21	17199374	17199374	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgccatttcatcgagAtcagtaatacacaaaccatt	6	10	2	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr21:17199374A>G	ENST00000285679.6	+	14	1914	c.1545A>G	c.(1543-1545)agA>agG	p.R515R	USP25_ENST00000285681.2_Silent_p.R515R|USP25_ENST00000400183.2_Silent_p.R515R|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	515	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTCATCGAGATCAGTAATAC	0.468																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1543-1545)agA>agG		ubiquitin specific peptidase 25							163	142	149					21																	17199374		2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17199374A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1545A>G	21.37:g.17199374A>G						USP25_ENST00000400183.2_Silent_p.R515R|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Silent_p.R515R	p.R515R			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	14	1914	+			515					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.1545A>G	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	1.742	-0.491378	0.04322	.	.	ENSG00000155313	ENST00000453553	.	.	.	4.6	2.28	0.28536	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48958	-0.8988	4	.	.	.	-5.8687	7.0908	0.25283	0.7723:0.0:0.2277:0.0	.	.	.	.	G	44	.	.	D	+	2	0	USP25	16121245	1.000000	0.71417	0.993000	0.49108	0.061000	0.15899	2.060000	0.41394	0.859000	0.35456	0.455000	0.32223	GAT		0.468	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			31	70	0	0	0	1	0	31	70					G	17199374	A	G	17199374	2	3	413	1	0	0	0	0	0	0	0	1	17053	330	12	3		3	USP25	21	17199374	Silent	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		17199374	30930521	27	35933											
SPRR2D	6703	broad.mit.edu	37	chr1	153012733	153012733	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagggctcagggcacttCgggggtggacatggctctgg	20	9	2	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153012733C>T	ENST00000368757.1	-	2	370	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P|SPRR2D_ENST00000368756.1_Silent_p.P30P			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				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)			CAGGGCACTTCGGGGGTGGAC	0.617																																						ENST00000368757.1																			0				endometrium(1)|skin(1)	2						c.(88-90)ccG>ccA		small proline-rich protein 2D							103	90	94					1																	153012733		2203	4297	6500	SO:0001819	synonymous_variant	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012733C>T	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.90G>A	1.37:g.153012733C>T						SPRR2D_ENST00000368756.1_Silent_p.P30P|SPRR2D_ENST00000360379.3_Silent_p.P30P|SPRR2D_ENST00000368758.3_Silent_p.P30P	p.P30P			P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	370	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Silent	SNP	ENST00000368757.1	37	c.90G>A	CCDS30864.1																																																																																				0.617	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			79	90	0	0	0	1	0	79	90					T	153012733	C	T	153012733	2	4	414	1	0	0	0	0	0	0	0	1	15098	871	31	1		1	SPRR2D	1	153012733	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		153012733	96237888	1	35934											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	55	0	0	0	1	0	3	55					T	153907309	C	T	153907309	2	4	414	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	894576	153907309	95343312	2	35935											
RYR2	6262	broad.mit.edu	37	chr1	237777667	237777667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgagaacaaaaaacacGgccttccagggatcggcctc	10	12	0	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:237777667G>A	ENST00000366574.2	+	37	5556	c.5239G>A	c.(5239-5241)Ggc>Agc	p.G1747S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1747	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)			CAAAAAACACGGCCTTCCAGG	0.517																																						ENST00000366574.2																			0				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						c.(5239-5241)Ggc>Agc		ryanodine receptor 2 (cardiac)							66	66	66					1																	237777667		2042	4192	6234	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777667G>A	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.5239G>A	1.37:g.237777667G>A	ENSP00000355533:p.Gly1747Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S	p.G1747S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5556	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1747			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5239G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123204	0.37436	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73789	-0.78;-0.78;-0.78	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	T	0.63861	0.2547	N	0.11698	0.16	0.80722	D	1	D	0.63046	0.992	P	0.46940	0.532	T	0.62576	-0.6825	10	0.18276	T	0.48	.	19.2592	0.93961	0.0:0.0:1.0:0.0	.	1747	Q92736	RYR2_HUMAN	S	1747;1745;1731	ENSP00000355533:G1747S;ENSP00000353174:G1745S;ENSP00000443798:G1731S	ENSP00000353174:G1745S	G	+	1	0	RYR2	235844290	1.000000	0.71417	0.994000	0.49952	0.787000	0.44495	5.481000	0.66826	2.563000	0.86464	0.650000	0.86243	GGC		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	13	0	0	0	1	0	9	13					A	237777667	G	A	237777667	3	1	414	1	0	0	0	0	1	0	0	0	13769	1116	39	1	5385	1	RYR2	1	237777667	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	83870358	237777667	11472954	3	35936											
CNNM3	26505	broad.mit.edu	37	chr2	97492662	97492662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtgtctgatgatgaaTataaagtaacaatctcgcct	8	7	3	3			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:97492662T>C	ENST00000305510.3	+	3	1490	c.1462T>C	c.(1462-1464)Tat>Cat	p.Y488H	CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	488					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGATGATGAATATAAAGTAAC	0.567																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1462-1464)Tat>Cat		cyclin M3							111	100	103					2																	97492662		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97492662T>C	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"cyclin M3"	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1462T>C	2.37:g.97492662T>C	ENSP00000305449:p.Tyr488His					ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H	p.Y488H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			3	1490	+			488					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1462T>C	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	T	9.347	1.064410	0.20067	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	D;D	0.90385	-2.37;-2.66	5.76	3.19	0.36642	.	0.599517	0.17080	N	0.187804	D	0.84683	0.5526	L	0.29908	0.895	0.09310	N	1	B;P	0.35192	0.117;0.489	P;B	0.45343	0.477;0.285	T	0.71882	-0.4458	10	0.15952	T	0.53	0.0144	2.8728	0.05621	0.1459:0.0778:0.1524:0.6239	.	440;488	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	H	440;440;488	ENSP00000366260:Y440H;ENSP00000305449:Y488H	ENSP00000305449:Y488H	Y	+	1	0	CNNM3	96856389	0.000000	0.05858	0.001000	0.08648	0.993000	0.82548	0.203000	0.17315	0.979000	0.38497	0.533000	0.62120	TAT		0.567	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		43	44	0	0	0	1	0	43	44					C	97492662	T	C	97492662	3	2	414	1	0	0	0	0	1	0	0	0	3614	1406	49	3	1472	3	CNNM3	2	97492662	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		97492662	145706711	4	35937											
POTEE	445582	broad.mit.edu	37	chr2	132021797	132021797	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctatgttgccctggacttCgagcaggagatggccacggc	14	11	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:132021797C>T	ENST00000356920.5	+	15	2863	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCTGGACTTCGAGCAGGAGA	0.597																																						ENST00000356920.5																			0											c.(2767-2769)ttC>ttT		POTE ankyrin domain family, member E							113	126	122					2																	132021797		2202	4295	6497	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021797C>T	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.2769C>T	2.37:g.132021797C>T						PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.F923F	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2863	+			923			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2769C>T	CCDS46414.1																																																																																				0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		8	250	0	0	0	1	0	8	250					T	132021797	C	T	132021797	2	4	414	1	0	0	0	0	0	0	0	1	12264	883	31	1		1	POTEE	2	132021797	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	34529135	132021797	111177576	5	35938											
CCDC148	130940	broad.mit.edu	37	chr2	159166120	159166120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgctctatagcaaagCgatattggtcacaatatttc	7	8	2	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:159166120C>T	ENST00000283233.5	-	9	1248	c.935G>A	c.(934-936)cGc>cAc	p.R312H	CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H|CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	312										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TATAGCAAAGCGATATTGGTC	0.348																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(934-936)cGc>cAc		coiled-coil domain containing 148							88	89	89					2																	159166120		2201	4300	6501	SO:0001583	missense	130940							g.chr2:159166120C>T		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.935G>A	2.37:g.159166120C>T	ENSP00000283233:p.Arg312His					CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H|CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H	p.R312H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			9	1248	-			312					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.935G>A	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864656	0.32977	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.34072	1.7;1.7;1.38	5.95	1.45	0.22620	.	.	.	.	.	T	0.19967	0.0480	N	0.16233	0.39	0.26387	N	0.976644	B;B;B;B;B	0.10296	0.003;0.001;0.003;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001	T	0.26643	-1.0097	9	0.22109	T	0.4	0.0086	7.7086	0.28665	0.0:0.4618:0.0:0.5382	.	226;160;160;321;312	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	H	312;160;321;226	ENSP00000283233:R312H;ENSP00000386674:R321H;ENSP00000443740:R226H	ENSP00000283233:R312H	R	-	2	0	CCDC148	158874366	0.872000	0.30054	0.994000	0.49952	0.908000	0.53690	-0.010000	0.12743	-0.049000	0.13379	-0.137000	0.14449	CGC		0.348	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		4	69	0	0	0	1	0	4	69					T	159166120	C	T	159166120	3	4	414	1	0	0	0	0	1	0	0	0	2782	768	27	1	916	1	CCDC148	2	159166120	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	27144323	159166120	84033253	6	35939											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	58	0	0	0	1	0	35	58					T	209113112	C	T	209113112	3	4	414	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	49946992	209113112	34086261	7	35940											
PLXNB1	5364	broad.mit.edu	37	chr3	48445969	48445969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgcatcttctgggccGtgccatcctcctccagggca	10	17	2	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:48445969G>A	ENST00000358536.4	-	38	6601	c.6332C>T	c.(6331-6333)aCg>aTg	p.T2111M	PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2111					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)		CTTCTGGGCCGTGCCATCCTC	0.547																																						ENST00000358536.4																			0				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						c.(6331-6333)aCg>aTg		plexin B1							55	53	53					3																	48445969		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48445969G>A	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.6332C>T	3.37:g.48445969G>A	ENSP00000351338:p.Thr2111Met					PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M	p.T2111M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	38	6601	-			2111					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.6332C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897873	0.33535	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12147	3.94;3.95;3.94;2.71;3.95	4.87	4.0	0.46444	.	0.118658	0.56097	D	0.000032	T	0.19565	0.0470	L	0.34521	1.04	0.46222	D	0.998936	D;P	0.65815	0.995;0.884	P;B	0.56960	0.81;0.325	T	0.01188	-1.1424	10	0.34782	T	0.22	.	12.1864	0.54241	0.0822:0.0:0.9178:0.0	.	2111;1928	O43157;O43157-2	PLXB1_HUMAN;.	M	2111;1928;2111;722;1928	ENSP00000296440:T2111M;ENSP00000351242:T1928M;ENSP00000351338:T2111M;ENSP00000389320:T722M;ENSP00000414199:T1928M	ENSP00000296440:T2111M	T	-	2	0	PLXNB1	48420973	1.000000	0.71417	0.800000	0.32199	0.976000	0.68499	4.854000	0.62918	1.061000	0.40601	-0.142000	0.14014	ACG		0.547	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		11	12	0	0	0	1	0	11	12					A	48445969	G	A	48445969	3	1	414	1	0	0	0	0	1	0	0	0	12123	1145	40	1	79	1	PLXNB1	3	48445969	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		48445969	149576461	8	35941											
IL17RD	54756	broad.mit.edu	37	chr3	57144240	57144240	+	Frame_Shift_Del	DEL	T	T	-													cagttcttttgaagctactgTtgagctgcttcggatccttt							TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:57144240delT	ENST00000296318.7	-	4	498	c.410delA	c.(409-411)aacfs	p.N137fs	IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	137					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAGCTACTGTTGAGCTGCTT	0.463																																						ENST00000296318.7																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(409-411)acfs		interleukin 17 receptor D							129	121	123					3																	57144240		1951	4150	6101	SO:0001589	frameshift_variant	54756					Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57144240delT	AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.410delA	3.37:g.57144240delT	ENSP00000296318:p.Asn137fs					IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR|IL17RD_ENST00000463523.1_5'UTR	p.N137fs	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	4	498	-			137					Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Frame_Shift_Del	DEL	ENST00000296318.7	37	c.410delA	CCDS2880.2																																																																																				0.463	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563		2	4						2	4	---	---	---	---	-	57144240	T	-	57144240	7	5	414	1	0	1	0	1	0	0	0	0	7642	1725	60	0	1849	0	IL17RD	3	57144240	Frame_Shift_Del	DEL	T	TCGA-S9-A6TV-01A-12D-A34J-08	8698271	57144240	140878190	9	35942											
KTELC1	56983	broad.mit.edu	37	chr3	119187879	119187879	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccggcgatggagtggtGggctagctcgccgcttcggc	17	12	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:119187879G>A	ENST00000295588.4	+	1	95	c.11G>A	c.(10-12)tGg>tAg	p.W4*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	4					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATGGAGTGGTGGGCTAGCTCG	0.711																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(10-12)tGg>tAg		protein O-glucosyltransferase 1							47	40	42					3																	119187879		2202	4299	6501	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119187879G>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.11G>A	3.37:g.119187879G>A	ENSP00000295588:p.Trp4*						p.W4*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			1	95	+			4					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.11G>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032275	0.54790	.	.	ENSG00000163389	ENST00000295588	.	.	.	4.58	-1.38	0.09027	.	3.035780	0.00695	N	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	9.7467	7.973	0.30138	0.0:0.4287:0.2799:0.2914	.	.	.	.	X	4	.	ENSP00000295588:W4X	W	+	2	0	POGLUT1	120670569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.181000	0.09740	-0.058000	0.13177	0.655000	0.94253	TGG		0.711	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		3	3	0	0	0	1	0	3	3					A	119187879	G	A	119187879	4	1	414	1	0	0	0	0	0	1	0	0	8583	1357	47	2	13	2	KTELC1	3	119187879	Nonsense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	62043639	119187879	78834551	10	35943											
HS3ST1	9957	broad.mit.edu	37	chr4	11401181	11401181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcagatagcacgcgctccGacgggtctcgcaggatgagc	14	12	2	2	rs200959205		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:11401181G>A	ENST00000002596.5	-	2	1623	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	150					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACGCGCTCCGACGGGTCTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18975	0.0		0.001	False		,,,				2504	0.0					ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(448-450)tCg>tTg		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65	60	62		449	4.7	1	4		62	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	150/308	11401181	1,13005	2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401181G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.449C>T	4.37:g.11401181G>A	ENSP00000002596:p.Ser150Leu						p.S150L	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1623	-			150					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.449C>T	CCDS3408.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.0	4.234793	0.79800	2.27E-4	0.0	ENSG00000002587	ENST00000002596	D	0.81821	-1.54	5.61	4.72	0.59763	Sulfotransferase domain (1);	0.353745	0.27375	N	0.019649	T	0.75503	0.3858	N	0.20986	0.625	0.36245	D	0.853547	D	0.61697	0.99	P	0.54460	0.753	T	0.79193	-0.1904	10	0.56958	D	0.05	.	7.7333	0.28799	0.0919:0.2468:0.6614:0.0	.	150	O14792	HS3S1_HUMAN	L	150	ENSP00000002596:S150L	ENSP00000002596:S150L	S	-	2	0	HS3ST1	11010279	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.567000	0.53813	2.793000	0.96121	0.655000	0.94253	TCG		0.597	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		23	27	0	0	0	1	0	23	27					A	11401181	G	A	11401181	3	1	414	1	0	0	0	0	1	0	0	0	7363	1059	37	1	478	1	HS3ST1	4	11401181	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		11401181	179753095	11	35944											
AADAT	51166	broad.mit.edu	37	chr4	170990336	170990336	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagagtcagctctgaTgacacgtccatcaacatcca	7	11	3	4			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:170990336T>A	ENST00000337664.4	-	7	1042	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	AADAT_ENST00000509167.1_Missense_Mutation_p.I260F|AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	256					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		TCAGCTCTGATGACACGTCCA	0.388																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(766-768)Atc>Ttc		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						84	81	82					4																	170990336		2203	4300	6503	SO:0001583	missense	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170990336T>A	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"kynurenine aminotransferase II", "L kynurenine/alpha aminoadipate aminotransferase"	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.766A>T	4.37:g.170990336T>A	ENSP00000336808:p.Ile256Phe					AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F|AADAT_ENST00000509167.1_Missense_Mutation_p.I260F	p.I256F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	7	1042	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	256					B3KP84|Q9UL02	Missense_Mutation	SNP	ENST00000337664.4	37	c.766A>T	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317260	0.81469	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.24	5.24	0.73138	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048392	0.85682	D	0.000000	T	0.74966	0.3786	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.976;0.986	T	0.81448	-0.0928	10	0.72032	D	0.01	-22.3237	15.8522	0.78940	0.0:0.0:0.0:1.0	.	260;256	Q8N5Z0-2;Q8N5Z0	.;AADAT_HUMAN	F	256;256;260;256	ENSP00000336808:I256F;ENSP00000423341:I256F;ENSP00000423190:I260F;ENSP00000226840:I256F	ENSP00000336808:I256F	I	-	1	0	AADAT	171226911	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.467000	0.53078	2.285000	0.76669	0.533000	0.62120	ATC		0.388	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		25	37	0	0	0	1	0	25	37					A	170990336	T	A	170990336	3	1	414	1	0	0	0	0	1	0	0	0	14	1464	51	5	539	5	AADAT	4	170990336	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	159589155	170990336	20163940	12	35945											
ODZ3	55714	broad.mit.edu	37	chr4	183710374	183710374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacccgactctctggctGccaagcagcaagctgatggc	13	14	1	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:183710374G>A	ENST00000511685.1	+	25	5556	c.5433G>A	c.(5431-5433)ctG>ctA	p.L1811L	TENM3_ENST00000406950.2_Silent_p.L1811L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1811					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCTCTGGCTGCCAAGCAGCA	0.498																																						ENST00000511685.1																			0											c.(5431-5433)ctG>ctA		teneurin transmembrane protein 3							51	51	51					4																	183710374		1964	4152	6116	SO:0001819	synonymous_variant	55714							g.chr4:183710374G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5433G>A	4.37:g.183710374G>A						TENM3_ENST00000406950.2_Silent_p.L1811L	p.L1811L							25	5556	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5433G>A	CCDS47165.1																																																																																				0.498	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			11	12	0	0	0	1	0	11	12					A	183710374	G	A	183710374	2	1	414	1	0	0	0	0	0	0	0	1	10836	1306	46	2		2	ODZ3	4	183710374	Silent	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	12720038	183710374	7443902	13	35946											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				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)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	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.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	56	0	0	0	1	0	3	56					T	32407029	A	T	32407029	2	4	414	1	0	0	0	0	0	0	0	1	17656	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S9-A6TV-01A-12D-A34J-08		32407029	148508231	14	35947											
PDE4D	5144	broad.mit.edu	37	chr5	58272256	58272256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccatagtcttcaaaTcagccagtagattcatgtgt	6	9	5	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:58272256T>C	ENST00000340635.6	-	13	1926	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G|PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	584					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AGTCTTCAAATCAGCCAGTAG	0.323																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1750-1752)gAt>gGt		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						123	114	117					5																	58272256		1844	4095	5939	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58272256T>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1751A>G	5.37:g.58272256T>C	ENSP00000345502:p.Asp584Gly					PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G|PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G	p.D584G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	13	1926	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	584					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1751A>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349464	0.82132	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.65	4.65	0.58169	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	0.84991	0.5595	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;P;P	0.89917	0.985;0.988;0.985;1.0;1.0;0.985;0.456;0.794	D;D;D;D;D;D;B;B	0.91635	0.977;0.987;0.966;0.999;0.999;0.977;0.374;0.254	D	0.87671	0.2541	10	0.72032	D	0.01	.	14.5305	0.67923	0.0:0.0:0.0:1.0	.	523;584;520;447;462;454;359;293	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	G	584;453;448;520;282;293;454;462;523;523;282	ENSP00000345502:D584G;ENSP00000353152:D448G;ENSP00000424852:D520G;ENSP00000351800:D282G;ENSP00000321739:D293G;ENSP00000425605:D454G;ENSP00000384806:D462G;ENSP00000423094:D523G;ENSP00000442734:D523G;ENSP00000421013:D282G	ENSP00000321739:D293G	D	-	2	0	PDE4D	58308013	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.825000	0.86693	2.085000	0.62840	0.533000	0.62120	GAT		0.323	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			6	7	0	0	0	1	0	6	7					C	58272256	T	C	58272256	3	2	414	1	0	0	0	0	1	0	0	0	11642	1435	50	3	690	3	PDE4D	5	58272256	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	25865227	58272256	122643004	15	35948											
KCNK16	83795	broad.mit.edu	37	chr6	39284602	39284602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgagagtgatgaaaGcaaagtagaagccctcgctg	14	7	0	4			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr6:39284602G>A	ENST00000373229.5	-	4	630	c.617C>T	c.(616-618)gCt>gTt	p.A206V	KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000425054.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V|KCNK17_ENST00000373231.4_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	206				FAF -> LLS (in Ref. 2; AAP82867). {ECO:0000305}.	potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTGATGAAAGCAAAGTAGAA	0.542																																						ENST00000425054.2																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(616-618)gCt>gTt		potassium channel, subfamily K, member 16							167	165	166					6																	39284602		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284602G>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.617C>T	6.37:g.39284602G>A	ENSP00000362326:p.Ala206Val					KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000373229.5_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V	p.A206V	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN			4	616	-			206	FAF -> LLS (in Ref. 2; AAP82867).				B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.617C>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960268	0.74016	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.35	5.35	0.76521	Ion transport 2 (1);	0.186449	0.45126	D	0.000394	T	0.28732	0.0712	L	0.46157	1.445	0.50039	D	0.999846	P;P;P;P	0.52692	0.811;0.951;0.952;0.955	P;P;B;P	0.60117	0.489;0.784;0.436;0.869	T	0.06427	-1.0827	10	0.02654	T	1	.	18.647	0.91415	0.0:0.0:1.0:0.0	.	206;206;206;206	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	V	206;206;141;206;206	ENSP00000362326:A206V;ENSP00000391498:A206V;ENSP00000423842:A141V;ENSP00000362324:A206V;ENSP00000415375:A206V	ENSP00000362324:A206V	A	-	2	0	KCNK16	39392580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.953000	0.63624	2.519000	0.84933	0.561000	0.74099	GCT		0.542	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		4	201	0	0	0	1	0	4	201					A	39284602	G	A	39284602	3	1	414	1	0	0	0	0	1	0	0	0	8063	971	34	2	709	2	KCNK16	6	39284602	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		39284602	131830465	16	35949											
WNT16	51384	broad.mit.edu	37	chr7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggcagagaatgcaaccGtacatcagagggtgcagatg	13	8	1	3	rs554766007		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:120979236G>A	ENST00000222462.2	+	4	1225	c.935G>A	c.(934-936)cGt>cAt	p.R312H	WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	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)					GAATGCAACCGTACATCAGAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22223	0.0		0.0	False		,,,				2504	0.001					ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(934-936)cGt>cAt		wingless-type MMTV integration site family, member 16							132	112	119					7																	120979236		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120979236G>A	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.935G>A	7.37:g.120979236G>A	ENSP00000222462:p.Arg312His					WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	p.R312H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			4	1225	+	all_neural(327;0.117)		312					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.935G>A	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079532	0.94050	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.76709	-1.04;-1.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	M	0.71920	2.185	0.80722	D	1	D;D	0.60160	0.987;0.982	P;P	0.48400	0.495;0.576	D	0.83909	0.0294	10	0.56958	D	0.05	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	312;302	Q9UBV4;E9PH60	WNT16_HUMAN;.	H	302;312	ENSP00000355065:R302H;ENSP00000222462:R312H	ENSP00000222462:R312H	R	+	2	0	WNT16	120766472	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	8.022000	0.88759	2.756000	0.94617	0.655000	0.94253	CGT		0.493	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		19	27	0	0	0	1	0	19	27					A	120979236	G	A	120979236	3	1	414	1	0	0	0	0	1	0	0	0	17382	1145	40	1	1018	1	WNT16	7	120979236	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		120979236	38159427	17	35950											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651419	121651420	+	In_Frame_Ins	INS	-	-	TTG													tctttcctctagtcacccctINSttgttgcttgacaatcagat							TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:121651419_121651420insTTG	ENST00000393386.2	+	12	2730_2731	c.2319_2320insTTG	c.(2320-2322)ttg>TTGttg	p.774_774L>LL	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	774					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						TAGTCACCCCTTTGTTGCTTGA	0.485																																						ENST00000393386.2																			0				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						c.(2317-2322)cctgtt>ccTTGtgtt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1																																				SO:0001652	inframe_insertion	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651419_121651420insTTG	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.2323_2325dupTTG	7.37:g.121651423_121651425dupTTG	ENSP00000377047:p.Leu776dup					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.773_774PV>PCV	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2730_2731	+			773					A4D0W5|C9JFM0|O76043|Q9UDR6	In_Frame_Ins	INS	ENST00000393386.2	37	c.2319_2320insTTG	CCDS34740.1																																																																																				0.485	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	122						8	122	---	---	---	---	TTG	121651420	-	TTG	121651419	7	5	414	1	0	1	1	0	0	0	0	0	12814	1596	56	0	2365	0	PTPRZ1	7	121651419	In_Frame_Ins	INS	-	TCGA-S9-A6TV-01A-12D-A34J-08	672183	121651419	37487244	18	35951											
SLC4A2	6522	broad.mit.edu	37	chr7	150762020	150762020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactgccccaccaggaggCgactcctcgggcctccaaag	10	18	0	0	rs201141316	byFrequency	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:150762020C>T	ENST00000485713.1	+	5	1585	c.545C>T	c.(544-546)gCg>gTg	p.A182V	SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	182	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGAGGCGACTCCTCGG	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		16082	0.002		0.0	False		,,,				2504	0.001					ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(544-546)gCg>gTg		solute carrier family 4 (anion exchanger), member 2		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	59	64	63		545,518,503,545	4.1	1	7		63	0,8600		0,0,4300	no	missense,missense,missense,missense	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	182/1242,173/1233,168/1228,182/1242	150762020	1,13005	2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150762020C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.545C>T	7.37:g.150762020C>T	ENSP00000419412:p.Ala182Val					SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V	p.A182V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1585	+			182			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.545C>T	CCDS5917.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.15	2.451008	0.43531	2.27E-4	0.0	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.92	5.01	4.12	0.48240	.	0.598800	0.14918	N	0.290802	T	0.56934	0.2019	L	0.38531	1.155	0.21473	N	0.999673	P;P;P	0.43662	0.802;0.802;0.814	B;B;B	0.29663	0.105;0.105;0.049	T	0.42032	-0.9475	10	0.17369	T	0.5	.	11.8308	0.52295	0.0:0.8235:0.1765:0.0	.	173;168;182	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	V	182;182;100;173;168	ENSP00000419412:A182V;ENSP00000405600:A182V;ENSP00000311402:A100V;ENSP00000376571:A173V;ENSP00000419164:A168V	ENSP00000311402:A100V	A	+	2	0	SLC4A2	150392953	0.009000	0.17119	0.997000	0.53966	0.950000	0.60333	-0.106000	0.10890	1.219000	0.43474	0.655000	0.94253	GCG		0.587	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		14	38	0	0	0	1	0	14	38					T	150762020	C	T	150762020	3	4	414	1	0	0	0	0	1	0	0	0	14654	768	27	1	559	1	SLC4A2	7	150762020	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	29110601	150762020	8376643	19	35952											
UBR5	51366	broad.mit.edu	37	chr8	103269902	103269902	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcttctctactattgaCcagaaccaacgcttgaactg	5	13	3	3			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:103269902C>T	ENST00000520539.1	-	58	8751	c.8145G>A	c.(8143-8145)tgG>tgA	p.W2715*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*|KB-431C1.5_ENST00000606361.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2715	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTACTATTGACCAGAACCAAC	0.328																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(8143-8145)tgG>tgA		ubiquitin protein ligase E3 component n-recognin 5							89	84	86					8																	103269902		2202	4300	6502	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103269902C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8145G>A	8.37:g.103269902C>T	ENSP00000429084:p.Trp2715*					UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*	p.W2715*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		58	8751	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2715			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.8145G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	53	20.288976	0.99929	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	2715;2714;443;2708	.	ENSP00000220959:W2714X	W	-	3	0	UBR5	103339078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.578000	0.87016	0.585000	0.79938	TGG		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	109	0	0	0	1	0	8	109					T	103269902	C	T	103269902	4	4	414	1	0	0	0	0	0	1	0	0	16902	508	18	2	262	2	UBR5	8	103269902	Nonsense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103269902	43094120	20	35953											
KIFC2	90990	broad.mit.edu	37	chr8	145698697	145698697	+	Frame_Shift_Del	DEL	T	T	-													tgcacccctacgccgtccccTggcagtcctccatgccccag							TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:145698697delT	ENST00000301332.2	+	17	2758	c.2381delT	c.(2380-2382)ctgfs	p.L794fs	KIFC2_ENST00000301331.5_3'UTR|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	794	Pro-rich.				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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	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)			CGCCGTCCCCTGGCAGTCCTC	0.746																																						ENST00000301332.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(2380-2382)cgfs		kinesin family member C2							11	9	10					8																	145698697		2107	4176	6283	SO:0001589	frameshift_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145698697delT	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.2381delT	8.37:g.145698697delT	ENSP00000301332:p.Leu794fs					KIFC2_ENST00000301331.5_3'UTR	p.L794fs	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	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)		17	2758	+	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)		794			Pro-rich.		E9PHB2|Q96NN6	Frame_Shift_Del	DEL	ENST00000301332.2	37	c.2381delT	CCDS6427.1																																																																																				0.746	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		2	4						2	4	---	---	---	---	-	145698697	T	-	145698697	7	5	414	1	0	1	0	1	0	0	0	0	8313	1580	55	0	2447	0	KIFC2	8	145698697	Frame_Shift_Del	DEL	T	TCGA-S9-A6TV-01A-12D-A34J-08	42428795	145698697	665325	21	35954											
IFT74	80173	broad.mit.edu	37	chr9	27062702	27062702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtacaataaaaccatcGtggatgctttacatagcacc	7	10	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:27062702G>A	ENST00000443698.1	+	20	1942	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	IFT74_ENST00000380062.5_Missense_Mutation_p.V591M|IFT74_ENST00000433700.1_Missense_Mutation_p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	591					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAAACCATCGTGGATGCTTT	0.403																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(1771-1773)Gtg>Atg		intraflagellar transport 74 homolog (Chlamydomonas)							103	94	97					9																	27062702		1864	4101	5965	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:27062702G>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1771G>A	9.37:g.27062702G>A	ENSP00000404122:p.Val591Met					IFT74_ENST00000380062.5_Missense_Mutation_p.V591M|IFT74_ENST00000433700.1_Missense_Mutation_p.V591M	p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	20	1942	+		all_neural(11;2.36e-10)	591					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.1771G>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029133	0.35797	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.12039	2.72;2.72;2.72	6.07	0.379	0.16213	.	0.363338	0.27912	N	0.017347	T	0.06462	0.0166	N	0.12182	0.205	0.24303	N	0.995115	B	0.22480	0.07	B	0.11329	0.006	T	0.37454	-0.9705	10	0.25106	T	0.35	-2.5082	9.7254	0.40328	0.6698:0.0:0.3302:0.0	.	591	Q96LB3	IFT74_HUMAN	M	591	ENSP00000389224:V591M;ENSP00000404122:V591M;ENSP00000369402:V591M	ENSP00000369402:V591M	V	+	1	0	IFT74	27052702	0.996000	0.38824	0.718000	0.30602	0.964000	0.63967	2.364000	0.44187	0.010000	0.14839	0.585000	0.79938	GTG		0.403	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		21	31	0	0	0	1	0	21	31					A	27062702	G	A	27062702	3	1	414	1	0	0	0	0	1	0	0	0	7563	1145	40	1	1914	1	IFT74	9	27062702	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		27062702	114150729	22	35955											
ARID3C	138715	broad.mit.edu	37	chr9	34623537	34623537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggcggggccgggaccCaaggctgggtcctgagcgcc	21	12	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:34623537C>T	ENST00000378909.2	-	4	842	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	250	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGCCGGGACCCAAGGCTGGGT	0.721																																						ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(748-750)ttG>ttA		AT rich interactive domain 3C (BRIGHT-like)							15	20	18					9																	34623537		2155	4238	6393	SO:0001819	synonymous_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623537C>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.750G>A	9.37:g.34623537C>T							p.L250L	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	842	-	all_epithelial(49;0.102)		250			Pro-rich.			Silent	SNP	ENST00000378909.2	37	c.750G>A	CCDS35006.1																																																																																				0.721	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		19	16	0	0	0	1	0	19	16					T	34623537	C	T	34623537	2	4	414	1	0	0	0	0	0	0	0	1	918	593	21	2		2	ARID3C	9	34623537	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	7560835	34623537	106589894	23	35956											
FLJ46321	389763	broad.mit.edu	37	chr9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgtctcctcacctgtcGtccaagaagggcaggggacc	11	15	2	1	rs370117363		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	994					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCACCTGTCGTCCAAGAAGG	0.502																																						ENST00000344803.2																			0											c.(2980-2982)Gtc>Atc		SPATA31 subfamily D, member 1		G	ILE/VAL	0,3878		0,0,1939	144	146	146		2980	-1.3	0	9		146	1,8279		0,1,4139	no	missense	FAM75D1	NM_001001670.2	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	benign	994/1577	84608365	1,12157	1939	4140	6079	SO:0001583	missense	389763							g.chr9:84608365G>A		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.2980G>A	9.37:g.84608365G>A	ENSP00000341988:p.Val994Ile						p.V994I	NM_001001670.2	NP_001001670.1					4	3027	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2980G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731644	0.15507	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.04917	3.53	2.45	-1.28	0.09318	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27500	0.08	T	0.43048	-0.9415	9	0.37606	T	0.19	.	2.3029	0.04167	0.3792:0.0:0.3883:0.2325	.	994	Q6ZQQ2	F75D1_HUMAN	I	994	ENSP00000341988:V994I	ENSP00000341988:V994I	V	+	1	0	FAM75D1	83798185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-0.276000	0.09206	-0.233000	0.12211	GTC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		34	142	0	0	0	1	0	34	142					A	84608365	G	A	84608365	3	1	414	1	0	0	0	0	1	0	0	0	5932	1145	40	1	2994	1	FLJ46321	9	84608365	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	49984828	84608365	56605066	24	35957											
USP6NL	9712	broad.mit.edu	37	chr10	11531171	11531171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttcctcgttcatataCatgaggagtaaagctgtgat	9	8	2	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr10:11531171C>T	ENST00000609104.1	-	10	988	c.594G>A	c.(592-594)atG>atA	p.M198I	USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I|USP6NL_ENST00000379237.2_Missense_Mutation_p.M221I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	198	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				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						CGTTCATATACATGAGGAGTA	0.483																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(592-594)atG>atA		USP6 N-terminal like							88	90	89					10																	11531171		1918	4146	6064	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11531171C>T	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.594G>A	10.37:g.11531171C>T	ENSP00000476462:p.Met198Ile					USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I	p.M198I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			10	988	-			198			Rab-GAP TBC.		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.594G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200671	0.79015	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03860	3.78;3.78	5.24	5.24	0.73138	Rab-GAP/TBC domain (4);	0.042306	0.85682	D	0.000000	T	0.09862	0.0242	L	0.43701	1.375	0.58432	D	0.999997	P;P	0.45126	0.756;0.851	P;P	0.46885	0.53;0.493	T	0.04693	-1.0933	10	0.46703	T	0.11	.	19.1829	0.93630	0.0:1.0:0.0:0.0	.	198;215	Q92738;Q92738-2	US6NL_HUMAN;.	I	198;215;198	ENSP00000277575:M215I;ENSP00000368539:M198I	ENSP00000277575:M215I	M	-	3	0	USP6NL	11571177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.996000	0.57009	2.606000	0.88127	0.655000	0.94253	ATG		0.483	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		21	71	0	0	0	1	0	21	71					T	11531171	C	T	11531171	3	4	414	1	0	0	0	0	1	0	0	0	17084	478	17	2	1916	2	USP6NL	10	11531171	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		11531171	124003576	25	35958											
DYNC2H1	79659	broad.mit.edu	37	chr11	103194689	103194689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgcctgccaatatcgctCgctcatctcagcgcatgatc	8	15	3	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:103194689C>T	ENST00000375735.2	+	82	12154	c.12010C>T	c.(12010-12012)Cgc>Tgc	p.R4004C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATATCGCTCGCTCATCTCA	0.393																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(12010-12012)Cgc>Tgc		dynein, cytoplasmic 2, heavy chain 1							69	68	68					11																	103194689		1874	4110	5984	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103194689C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12010C>T	11.37:g.103194689C>T	ENSP00000364887:p.Arg4004Cys					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C|DYNC2H1_ENST00000334267.7_Intron	p.R4004C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	82	12154	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	4004					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.12010C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987871	0.74589	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.09350	2.99;2.99	5.82	5.82	0.92795	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.979	T	0.35301	-0.9794	10	0.72032	D	0.01	.	18.2756	0.90081	0.0:1.0:0.0:0.0	.	4004;4011	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	C	4004;4011;250	ENSP00000364887:R4004C;ENSP00000381167:R4011C	ENSP00000364887:R4004C	R	+	1	0	DYNC2H1	102699899	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.142000	0.58044	2.753000	0.94483	0.467000	0.42956	CGC		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		4	27	0	0	0	1	0	4	27					T	103194689	C	T	103194689	3	4	414	1	0	0	0	0	1	0	0	0	4846	884	31	1	12361	1	DYNC2H1	11	103194689	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103194689	31811827	26	35959											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	12	12	1	1	rs533073686	byFrequency	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {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)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				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						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		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		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	167	0	0	0	1	0	4	167					C	125397652	T	C	125397652	2	2	414	1	0	0	0	0	0	0	0	1	16839	1625	57	3		3	UBC	12	125397652	Silent	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		125397652	8454243	27	35960											
NDFIP2	54602	broad.mit.edu	37	chr13	80117788	80117788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatctgcggatttggccttTccttgatcaaatggatcctt	8	10	2	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr13:80117788T>C	ENST00000218652.7	+	5	863	c.811T>C	c.(811-813)Tcc>Ccc	p.S271P		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	271					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		ATTTGGCCTTTCCTTGATCAA	0.378																																						ENST00000218652.7																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(811-813)Tcc>Ccc		Nedd4 family interacting protein 2							285	244	258					13																	80117788		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80117788T>C	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.811T>C	13.37:g.80117788T>C	ENSP00000218652:p.Ser271Pro						p.S271P	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	5	863	+		Acute lymphoblastic leukemia(28;0.205)	271					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.811T>C	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.827303	0.90955	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;D	0.94793	0.75;-3.52	5.7	5.7	0.88788	.	0.124327	0.56097	D	0.000031	D	0.97099	0.9052	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	D	0.97732	1.0203	10	0.87932	D	0	-17.477	15.9744	0.80049	0.0:0.0:0.0:1.0	.	157;271	B4DGY6;Q9NV92	.;NFIP2_HUMAN	P	271;168	ENSP00000218652:S271P;ENSP00000419200:S168P	ENSP00000218652:S271P	S	+	1	0	NDFIP2	79015789	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.588000	0.82629	2.165000	0.68154	0.528000	0.53228	TCC		0.378	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			62	52	0	0	0	1	0	62	52					C	80117788	T	C	80117788	3	2	414	1	0	0	0	0	1	0	0	0	10246	1783	62	3	829	3	NDFIP2	13	80117788	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		80117788	35052090	28	35961											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442111	103442111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagggcccgagatgagcCgtggagggactgcacggtct	18	10	1	3			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr14:103442111C>T	ENST00000361246.2	-	11	1705	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(1417-1419)Ggc>Agc		CDC42 binding protein kinase beta (DMPK-like)							130	141	137					14																	103442111		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442111C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1417G>A	14.37:g.103442111C>T	ENSP00000355237:p.Gly473Ser						p.G473S	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	11	1705	-		Melanoma(154;0.155)	473						Missense_Mutation	SNP	ENST00000361246.2	37	c.1417G>A	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884272	0.17467	.	.	ENSG00000198752	ENST00000361246	T	0.62941	-0.01	5.34	0.706	0.18133	.	0.303033	0.40385	N	0.001113	T	0.35393	0.0930	N	0.11927	0.2	0.40717	D	0.982625	B	0.02656	0.0	B	0.04013	0.001	T	0.16158	-1.0412	10	0.07813	T	0.8	.	9.9133	0.41419	0.0:0.6038:0.0:0.3962	.	473	Q9Y5S2	MRCKB_HUMAN	S	473	ENSP00000355237:G473S	ENSP00000355237:G473S	G	-	1	0	CDC42BPB	102511864	0.023000	0.18921	0.001000	0.08648	0.429000	0.31625	0.562000	0.23531	0.195000	0.20347	-0.145000	0.13849	GGC		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		36	121	0	0	0	1	0	36	121					T	103442111	C	T	103442111	3	4	414	1	0	0	0	0	1	0	0	0	3073	652	23	1	3826	1	CDC42BPB	14	103442111	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103442111	3907429	29	35962											
SLC12A1	6557	broad.mit.edu	37	chr15	48539642	48539642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttttcttatagccatgGcatttattcttattggtttg	6	7	3	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:48539642G>A	ENST00000558405.1	+	12	1683	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	SLC12A1_ENST00000396577.3_Missense_Mutation_p.A557T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	557					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)	TATAGCCATGGCATTTATTCT	0.328																																						ENST00000396577.3																			0				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						c.(1669-1671)Gca>Aca		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						37	38	38					15																	48539642		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539642G>A		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.1669G>A	15.37:g.48539642G>A	ENSP00000453409:p.Ala557Thr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.A557T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T	p.A557T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	13	1884	+		all_lung(180;0.00219)	557					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1669G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048000	0.93740	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98835	-5.17;-5.17	5.33	5.33	0.75918	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	M	0.69463	2.115	0.80722	D	1	B;P	0.42973	0.282;0.796	P;P	0.55965	0.513;0.788	D	0.99860	1.1082	10	0.87932	D	0	.	19.2116	0.93757	0.0:0.0:1.0:0.0	.	557;557	E9PDW4;Q13621	.;S12A1_HUMAN	T	370;557;557	ENSP00000370381:A557T;ENSP00000379822:A557T	ENSP00000370381:A557T	A	+	1	0	SLC12A1	46326934	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.652000	0.98499	2.766000	0.95052	0.655000	0.94253	GCA		0.328	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			14	8	0	0	0	1	0	14	8					A	48539642	G	A	48539642	3	1	414	1	0	0	0	0	1	0	0	0	14382	1203	42	2	1815	2	SLC12A1	15	48539642	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		48539642	53991750	30	35963											
ABHD2	11057	broad.mit.edu	37	chr15	89736538	89736538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcttctaaccattccaAaatctctttcaggtaagtgt	5	9	4	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:89736538A>G	ENST00000352732.5	+	10	1589	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	357					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACCATTCCAAAATCTCTTTC	0.433																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(1069-1071)Aaa>Gaa		abhydrolase domain containing 2							215	172	187					15																	89736538		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89736538A>G	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1069A>G	15.37:g.89736538A>G	ENSP00000268129:p.Lys357Glu					ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			10	1589	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		357					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.1069A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168921	0.78339	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.40756	1.02;1.02	5.33	5.33	0.75918	Alpha/beta hydrolase fold-1 (1);	0.098630	0.64402	D	0.000003	T	0.42040	0.1185	L	0.40543	1.245	0.44852	D	0.997862	B	0.26318	0.146	B	0.41946	0.371	T	0.16958	-1.0385	10	0.06365	T	0.9	-10.8604	15.6047	0.76658	1.0:0.0:0.0:0.0	.	357	P08910	ABHD2_HUMAN	E	357	ENSP00000268129:K357E;ENSP00000347217:K357E	ENSP00000268129:K357E	K	+	1	0	ABHD2	87537542	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.018000	0.70811	2.137000	0.66172	0.460000	0.39030	AAA		0.433	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			29	42	0	0	0	1	0	29	42					G	89736538	A	G	89736538	3	3	414	1	0	0	0	0	1	0	0	0	82	15	1	3	1099	3	ABHD2	15	89736538	Missense_Mutation	SNP	A	TCGA-S9-A6TV-01A-12D-A34J-08	41196896	89736538	12794854	31	35964											
CNOT1	23019	broad.mit.edu	37	chr16	58587700	58587700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttacctcctgtaaatgatGtggaaattgcataaagtgac	8	7	0	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr16:58587700G>T	ENST00000317147.5	-	22	3288	c.2956C>A	c.(2956-2958)Cat>Aat	p.H986N	CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N|CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	986	Interaction with ZFP36.				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)		TGTAAATGATGTGGAAATTGC	0.358																																						ENST00000317147.5																			0				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						c.(2956-2958)Cat>Aat		CCR4-NOT transcription complex, subunit 1							122	120	121					16																	58587700		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58587700G>T	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.2956C>A	16.37:g.58587700G>T	ENSP00000320949:p.His986Asn					CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N	p.H986N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	22	3288	-			986					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2956C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913936	0.52439	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.41758	1.01;0.99	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	N	0.03608	-0.345	0.80722	D	1	P;B;B	0.48294	0.908;0.086;0.011	D;B;B	0.64144	0.922;0.045;0.025	T	0.52779	-0.8530	10	0.34782	T	0.22	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	986;986;981	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	N	986;415;981;986	ENSP00000320949:H986N;ENSP00000413113:H986N	ENSP00000320949:H986N	H	-	1	0	CNOT1	57145201	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	CAT		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		25	35	1	0	1.42536e-11	1	1.45127e-11	25	35					T	58587700	G	T	58587700	3	4	414	1	0	0	0	0	1	0	0	0	3617	1377	48	4	4508	4	CNOT1	16	58587700	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		58587700	31767053	32	35965											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	2	0	0	0	1	0	20	2					A	7577121	G	A	7577121	3	1	414	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		7577121	73618089	33	35966											
EFCAB5	374786	broad.mit.edu	37	chr17	28405524	28405524	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaggccctcatgcaggTacgtttcctaaagcagtatg	9	10	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:28405524T>C	ENST00000394835.3	+	15	3219		c.e15+2		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCATGCAGGTACGTTTCCTA	0.463																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.e15+2		EF-hand calcium binding domain 5							26	25	25					17																	28405524		1944	4133	6077	SO:0001630	splice_region_variant	374786						calcium ion binding	g.chr17:28405524T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3027+2T>C	17.37:g.28405524T>C						EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site		NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			15	3219	+								B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Splice_Site	SNP	ENST00000394835.3	37		CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337098	0.60963	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2598	0.54645	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFCAB5	25429650	1.000000	0.71417	0.991000	0.47740	0.706000	0.40770	5.433000	0.66520	1.845000	0.53610	0.533000	0.62120	.		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	Intron	12	7	0	0	0	1	0	12	7					C	28405524	T	C	28405524	5	2	414	1	0	0	0	0	0	0	1	0	4938	1652	57	3	3254	3	EFCAB5	17	28405524	Splice_Site	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	20828403	28405524	52789686	34	35967											
LHX1	3975	broad.mit.edu	37	chr17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacctgggcgccaagcggcGgggaccgcgcaccaccatca	14	16	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					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)				GCCAAGCGGCGGGGACCGCGC	0.667																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(541-543)cGg>cAg		LIM homeobox 1							42	47	45					17																	35298051		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298051G>A	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.542G>A	17.37:g.35298051G>A	ENSP00000254457:p.Arg181Gln					RP11-445F12.2_ENST00000607336.1_RNA	p.R181Q	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	1953	+		Breast(25;0.00607)	181					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.542G>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662446	0.96734	.	.	ENSG00000132130	ENST00000254457	D	0.97209	-4.29	4.26	4.26	0.50523	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98295	0.9435	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98951	1.0794	10	0.72032	D	0.01	.	17.9822	0.89145	0.0:0.0:1.0:0.0	.	167;181	B4DPA6;P48742	.;LHX1_HUMAN	Q	181	ENSP00000254457:R181Q	ENSP00000254457:R181Q	R	+	2	0	LHX1	32372164	1.000000	0.71417	0.792000	0.32020	0.986000	0.74619	9.573000	0.98181	2.648000	0.89879	0.561000	0.74099	CGG		0.667	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		20	21	0	0	0	1	0	20	21					A	35298051	G	A	35298051	3	1	414	1	0	0	0	0	1	0	0	0	8770	1116	39	1	552	1	LHX1	17	35298051	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	6892527	35298051	45897159	35	35968											
RNF43	54894	broad.mit.edu	37	chr17	56439937	56439937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggggcggcaccggatgcGcagcaccgaagccaggatga	18	12	0	1	rs373068965		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:56439937G>A	ENST00000584437.1	-	5	2610	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C|RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	219					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCGGATGCGCAGCACCGAA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		12920	0.0		0.001	False		,,,				2504	0.0					ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(655-657)Cgc>Tgc		ring finger protein 43							72	63	66					17																	56439937		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439937G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.655C>T	17.37:g.56439937G>A	ENSP00000463069:p.Arg219Cys					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C	p.R219C			Q68DV7	RNF43_HUMAN			5	2610	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		219					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.655C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309625	0.95629	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.10382	3.01;2.88	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.974	T	0.02059	-1.1221	10	0.56958	D	0.05	-22.6329	18.2123	0.89874	0.0:0.0:1.0:0.0	.	178;219;219	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	C	219;178	ENSP00000385328:R219C;ENSP00000441969:R178C	ENSP00000385328:R219C	R	-	1	0	RNF43	53794936	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.692000	0.84203	2.546000	0.85860	0.491000	0.48974	CGC		0.607	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	51	0	0	0	1	0	7	51					A	56439937	G	A	56439937	3	1	414	1	0	0	0	0	1	0	0	0	13495	1087	38	1	1716	1	RNF43	17	56439937	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	21141886	56439937	24755273	36	35969											
MED16	10025	broad.mit.edu	37	chr19	877046	877046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctctgtaccatactgggCtgcacgtgcagcaggatgtc	13	11	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:877046C>A	ENST00000589119.1	-	8	1487	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Missense_Mutation_p.Q496H|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H|MED16_ENST00000395808.3_Missense_Mutation_p.Q496H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	496					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;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)		CCATACTGGGCTGCACGTGCA	0.682																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1486-1488)caG>caT		mediator complex subunit 16							55	46	49					19																	877046		2196	4296	6492	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:877046C>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1488G>T	19.37:g.877046C>A	ENSP00000464810:p.Gln496His					MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.Q496H|MED16_ENST00000395808.3_Missense_Mutation_p.Q496H|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H	p.Q496H			Q9Y2X0	MED16_HUMAN		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)	9	1638	-		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;9.42e-05)|Hepatocellular(1079;0.137)	496					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1488G>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	c	14.61	2.587714	0.46110	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.03	4.03	0.46877	.	0.145790	0.49305	D	0.000147	T	0.38295	0.1035	N	0.04880	-0.145	0.53688	D	0.999972	D;D;D;D	0.58620	0.965;0.983;0.965;0.971	P;P;P;P	0.60345	0.799;0.847;0.799;0.873	T	0.41034	-0.9531	10	0.32370	T	0.25	-5.7431	15.2146	0.73254	0.0:1.0:0.0:0.0	.	496;496;496;496	Q9Y2X0-2;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	H	496;496;496;496;352;257;255;214;496	ENSP00000325612:Q496H;ENSP00000308528:Q496H;ENSP00000379153:Q496H;ENSP00000269814:Q496H	ENSP00000269814:Q496H	Q	-	3	2	MED16	828046	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.504000	0.53347	1.806000	0.52798	0.500000	0.49745	CAG		0.682	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		48	10	1	0	1.19451e-25	1	1.26213e-25	48	10					A	877046	C	A	877046	3	1	414	1	0	0	0	0	1	0	0	0	9434	796	28	4	1177	4	MED16	19	877046	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		877046	58251937	37	35970											
ATP13A1	57130	broad.mit.edu	37	chr19	19770501	19770501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgagaaggcgtttcccaCaggaaaggccacggggagaa	15	8	0	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:19770501C>T	ENST00000357324.6	-	3	612	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCGTTTCCCACAGGAAAGGCC	0.517																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(586-588)Gtg>Atg		ATPase type 13A1							63	64	64					19																	19770501		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19770501C>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.586G>A	19.37:g.19770501C>T	ENSP00000349877:p.Val196Met					ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	p.V196M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			3	612	-			196					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.586G>A	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905696	0.52333	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82255	-1.57;-1.59	4.55	4.55	0.56014	.	0.131175	0.53938	D	0.000054	T	0.80048	0.4552	M	0.67625	2.065	0.38579	D	0.950132	P;P	0.42620	0.69;0.785	B;B	0.40901	0.343;0.247	T	0.80400	-0.1398	10	0.33141	T	0.24	-21.0066	10.1465	0.42767	0.1996:0.8004:0.0:0.0	.	196;78	Q9HD20;Q9HD20-2	AT131_HUMAN;.	M	78;196	ENSP00000291503:V78M;ENSP00000349877:V196M	ENSP00000291503:V78M	V	-	1	0	ATP13A1	19631501	0.995000	0.38212	0.393000	0.26258	0.877000	0.50540	3.099000	0.50267	2.086000	0.62901	0.655000	0.94253	GTG		0.517	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		11	27	0	0	0	1	0	11	27					T	19770501	C	T	19770501	3	4	414	1	0	0	0	0	1	0	0	0	1123	478	17	2	3124	2	ATP13A1	19	19770501	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	18893455	19770501	39358482	38	35971											
RASSF2	9770	broad.mit.edu	37	chr20	4771250	4771250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaggggcttcaggccCctggagtctgagagaggaga	16	10	2	3	rs370756464		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr20:4771250C>T	ENST00000379400.3	-	7	579	c.384G>A	c.(382-384)agG>agA	p.R128R	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.R128R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	128					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)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTTCAGGCCCCTGGAGTCTG	0.607																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(382-384)agG>agA		Ras association (RalGDS/AF-6) domain family member 2		C	,	2,4404	2.1+/-5.4	0,2,2201	33	32	32		384,384	0.9	1	20		32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASSF2	NM_014737.2,NM_170774.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	128/327,128/327	4771250	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4771250C>T	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.384G>A	20.37:g.4771250C>T						RASSF2_ENST00000379376.2_Silent_p.R128R|RASSF2_ENST00000478553.1_5'UTR	p.R128R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			7	579	-			128					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.384G>A	CCDS13083.1																																																																																				0.607	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		11	21	0	0	0	1	0	11	21					T	4771250	C	T	4771250	2	4	414	1	0	0	0	0	0	0	0	1	13086	622	22	2		2	RASSF2	20	4771250	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		4771250	58254270	39	35972											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs59641550		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	485	0	0	0	1	0	5	485					G	49355893	C	G	49355893	3	3	414	1	0	0	0	0	1	0	0	0	6190	479	17	4	1282	4	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		49355893	105914667	40	35973											
ATRX	546	broad.mit.edu	37	chrX	76829787	76829787	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtagtggaaccatctaaaCggtaatagtcaatgtttcga	9	7	2	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:76829787C>G	ENST00000373344.5	-	28	6468	c.6254G>C	c.(6253-6255)cGt>cCt	p.R2085P	ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2085	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						ACCATCTAAACGGTAATAGTC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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	GRCh37	CM062435	ATRX	M		c.(6253-6255)cGt>cCt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						137	121	126					X																	76829787		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76829787C>G	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.6254G>C	X.37:g.76829787C>G	ENSP00000362441:p.Arg2085Pro					ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	p.R2085P	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			28	6468	-			2085			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6254G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	-	18.11	3.549734	0.65311	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.75477	-0.94;-0.94	5.45	5.45	0.79879	Helicase, C-terminal (3);	0.000000	0.64402	U	0.000001	D	0.92825	0.7718	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96137	0.9097	10	0.87932	D	0	-5.5915	18.0086	0.89216	0.0:1.0:0.0:0.0	.	2047;2085	P46100-4;P46100	.;ATRX_HUMAN	P	2085;2047	ENSP00000362441:R2085P;ENSP00000378967:R2047P	ENSP00000362441:R2085P	R	-	2	0	ATRX	76716443	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.090000	0.76916	2.288000	0.76882	0.540000	0.68198	CGT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		84	16	0	0	0	1	0	84	16					G	76829787	C	G	76829787	3	3	414	1	0	0	0	0	1	0	0	0	1208	536	19	4	1256	4	ATRX	23	76829787	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	27473894	76829787	78440773	41	35974											
AFF2	2334	broad.mit.edu	37	chrX	148038126	148038126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggagaaaccagcccctaagGgcaaacgtaagcacaaggta	11	10	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:148038126G>T	ENST00000370460.2	+	11	3030	c.2551G>T	c.(2551-2553)Ggc>Tgc	p.G851C	AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000342251.3_Missense_Mutation_p.G818C|AFF2_ENST00000370457.5_Missense_Mutation_p.G818C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	851					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTAAGGGCAAACGTAA	0.517																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2551-2553)Ggc>Tgc		AF4/FMR2 family, member 2							65	64	64					X																	148038126		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148038126G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2551G>T	X.37:g.148038126G>T	ENSP00000359489:p.Gly851Cys					AFF2_ENST00000342251.3_Missense_Mutation_p.G818C|AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000370457.5_Missense_Mutation_p.G818C	p.G851C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	3030	+	Acute lymphoblastic leukemia(192;6.56e-05)		851					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2551G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019916	0.35606	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.87	2.8	0.32819	.	0.487137	0.23169	N	0.051159	T	0.67795	0.2931	L	0.59436	1.845	0.30424	N	0.777833	D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998;0.999	P;P;P;P;P;D	0.65323	0.905;0.891;0.891;0.891;0.891;0.934	T	0.65142	-0.6240	10	0.62326	D	0.03	.	4.179	0.10365	0.2069:0.0:0.3906:0.4025	.	492;816;818;812;841;851	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	851;818;818;492	ENSP00000359489:G851C;ENSP00000359486:G818C;ENSP00000345459:G818C;ENSP00000286437:G492C	ENSP00000286437:G492C	G	+	1	0	AFF2	147845826	1.000000	0.71417	0.997000	0.53966	0.329000	0.28539	0.891000	0.28309	1.233000	0.43693	0.600000	0.82982	GGC		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		24	6	1	0	7.87624e-14	1	8.16796e-14	24	6					T	148038126	G	T	148038126	3	4	414	1	0	0	0	0	1	0	0	0	357	1232	43	4	2648	4	AFF2	23	148038126	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	71208339	148038126	7232434	42	35975											
SGIP1	84251	broad.mit.edu	37	chr1	67109265	67109267	+	In_Frame_Del	DEL	GAA	GAA	-													tttattcttcaagtgaatcgGaagaagaagaagaatcacat							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:67109265_67109267delGAA	ENST00000371037.4	+	7	399_401	c.322_324delGAA	c.(322-324)gaadel	p.E112del	SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGTGAATCGGAAGAAGAAGAAG	0.345																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(322-324)del		SH3-domain GRB2-like (endophilin) interacting protein 1				3,4263		0,3,2130						-10.6	0.2			81	12,8242		5,2,4120	no	coding	SGIP1	NM_032291.2		5,5,6250	A1A1,A1R,RR		0.1454,0.0703,0.1198				15,12505				SO:0001651	inframe_deletion	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67109265_67109267delGAA	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.322_324delGAA	1.37:g.67109274_67109276delGAA	ENSP00000360076:p.Glu112del					SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del	p.E112del	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			7	399_401	+			112		E -> Q (in dbSNP:rs17490057).	Poly-Glu.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	In_Frame_Del	DEL	ENST00000371037.4	37	c.322_324delGAA	CCDS30744.1																																																																																				0.345	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		17	33						17	33	---	---	---	---	-	67109267	GAA	-	67109265	7	5	415	1	0	1	0	1	0	0	0	0	14206	1175	41	0	348	0	SGIP1	1	67109265	In_Frame_Del	DEL	GAA	TCGA-S9-A6TW-01A-12D-A32B-08		67109265	182141356	1	35976											
HHAT	55733	broad.mit.edu	37	chr1	210796935	210796935	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgcttcttgttccacctcGatgctgatcctgtccaacct	6	15	1	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:210796935G>A	ENST00000367010.1	+	11	1538	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000391905.3_Silent_p.S437S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000545154.1_Silent_p.S438S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	437					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTTCCACCTCGATGCTGATCC	0.502																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1309-1311)tcG>tcA		hedgehog acyltransferase							305	281	289					1																	210796935		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796935G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1311G>A	1.37:g.210796935G>A						HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000545154.1_Silent_p.S438S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000391905.3_Silent_p.S437S	p.S437S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1538	+			437					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.1311G>A	CCDS1495.1																																																																																				0.502	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		108	231	0	0	0	1	0	108	231					A	210796935	G	A	210796935	2	1	415	1	0	0	0	0	0	0	0	1	7089	1045	37	1		1	HHAT	1	210796935	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	143687670	210796935	38453686	2	35977											
DCTN1	1639	broad.mit.edu	37	chr2	74598294	74598296	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcacctgagcccttagtcCctcctcctcctgcaaaggag							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:74598294_74598296delCCT	ENST00000361874.3	-	9	970_972	c.653_655delAGG	c.(652-657)gaggga>gga	p.E218del	DCTN1_ENST00000407639.2_In_Frame_Del_p.E84del|DCTN1_ENST00000409240.1_In_Frame_Del_p.E181del|DCTN1_ENST00000409868.1_In_Frame_Del_p.E201del|DCTN1_ENST00000394003.3_In_Frame_Del_p.E211del|DCTN1_ENST00000409567.3_In_Frame_Del_p.E198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.E84del	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	218					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						GCCCTTAGTCCCTCCTCCTCCTG	0.542																																						ENST00000361874.3																			0				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						c.(652-657)gga>g		dynactin 1																																				SO:0001651	inframe_deletion	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598294_74598296delCCT		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.653_655delAGG	2.37:g.74598303_74598305delCCT	ENSP00000354791:p.Glu218del					DCTN1_ENST00000409240.1_In_Frame_Del_p.EG181del|DCTN1_ENST00000409868.1_In_Frame_Del_p.EG201del|DCTN1_ENST00000409567.3_In_Frame_Del_p.EG198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.EG84del|DCTN1_ENST00000407639.2_In_Frame_Del_p.EG84del|DCTN1_ENST00000394003.3_In_Frame_Del_p.EG211del	p.EG218del	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	970_972	-			218					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	In_Frame_Del	DEL	ENST00000361874.3	37	c.653_655delAGG	CCDS1939.1																																																																																				0.542	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		11	347						11	347	---	---	---	---	-	74598296	CCT	-	74598294	7	5	415	1	0	1	0	1	0	0	0	0	4306	632	22	0	3277	0	DCTN1	2	74598294	In_Frame_Del	DEL	CCT	TCGA-S9-A6TW-01A-12D-A32B-08		74598294	168601079	3	35978											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	32	0	0	0	1	0	19	32					T	209113112	C	T	209113112	3	4	415	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	134514818	209113112	34086261	4	35979											
CPNE9	151835	broad.mit.edu	37	chr3	9754444	9754444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtgcaaacaagctGgacaagaaggacttctttgg	12	8	1	1	rs375304283		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:9754444G>A	ENST00000383832.3	+	9	667	c.477G>A	c.(475-477)ctG>ctA	p.L159L	CPNE9_ENST00000383831.3_Silent_p.L159L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	159	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CAAACAAGCTGGACAAGAAGG	0.517																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(475-477)ctG>ctA		copine family member IX							130	142	138					3																	9754444		2184	4300	6484	SO:0001819	synonymous_variant	151835							g.chr3:9754444G>A		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.477G>A	3.37:g.9754444G>A						CPNE9_ENST00000383831.3_Silent_p.L159L	p.L159L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			9	667	+	Medulloblastoma(99;0.227)		159			C2 2.		A1L430|A6NDX6|A8MSP8	Silent	SNP	ENST00000383832.3	37	c.477G>A	CCDS2574.2																																																																																				0.517	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		43	98	0	0	0	1	0	43	98					A	9754444	G	A	9754444	2	1	415	1	0	0	0	0	0	0	0	1	3819	1335	47	2		2	CPNE9	3	9754444	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		9754444	188267986	5	35980											
UBP1	7342	broad.mit.edu	37	chr3	33450750	33450750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaggattgtggtatcaTaggacggctgatacttttct	12	6	2	2	rs188688575		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:33450750T>C	ENST00000283629.3	-	7	1326	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	266					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGTGGTATCATAGGACGGCTG	0.383													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19781	0.0		0.0	False		,,,				2504	0.0					ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(796-798)tAt>tGt		upstream binding protein 1 (LBP-1a)		T	CYS/TYR,CYS/TYR,CYS/TYR	0,4406		0,0,2203	277	270	272		797,797,797	5.9	1	3		272	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	UBP1	NM_014517.4,NM_001128161.1,NM_001128160.1	194,194,194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	266/541,266/541,266/505	33450750	1,13005	2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450750T>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.797A>G	3.37:g.33450750T>C	ENSP00000283629:p.Tyr266Cys					UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C	p.Y266C	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			7	1326	-			266					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.797A>G	CCDS2659.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	15.48	2.845008	0.51164	0.0	1.16E-4	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.19105	2.17;2.2;2.17	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.41236	1.265	0.80722	D	1	D;B	0.76494	0.999;0.059	D;B	0.65874	0.939;0.067	T	0.02184	-1.1199	10	0.32370	T	0.25	-6.2997	11.6181	0.51102	0.1327:0.0:0.0:0.8673	.	266;266	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	C	266	ENSP00000283629:Y266C;ENSP00000395558:Y266C;ENSP00000283628:Y266C	ENSP00000283628:Y266C	Y	-	2	0	UBP1	33425754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.292000	0.72725	2.367000	0.80283	0.528000	0.53228	TAT		0.383	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		44	127	0	0	0	1	0	44	127					C	33450750	T	C	33450750	3	2	415	1	0	0	0	0	1	0	0	0	16892	1406	49	3	865	3	UBP1	3	33450750	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08	23696306	33450750	164571680	6	35981											
RASSF1	11186	broad.mit.edu	37	chr3	50368774	50368774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtactcacgttcacctcCccagagtcattttccttcag	5	14	4	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:50368774C>T	ENST00000357043.2	-	5	914	c.879G>A	c.(877-879)ggG>ggA	p.G293G	RASSF1_ENST00000327761.3_Silent_p.G219G|RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000359365.4_Silent_p.G289G					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTTCACCTCCCCAGAGTCAT	0.542																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(865-867)ggG>ggA		Ras association (RalGDS/AF-6) domain family member 1							65	64	64					3																	50368774		2203	4300	6503	SO:0001819	synonymous_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50368774C>T	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.879G>A	3.37:g.50368774C>T						RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000357043.2_Silent_p.G293G|RASSF1_ENST00000327761.3_Silent_p.G219G	p.G289G	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	973	-			293			Ras-associating.			Silent	SNP	ENST00000357043.2	37	c.867G>A	CCDS2820.1																																																																																				0.542	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			13	29	0	0	0	1	0	13	29					T	50368774	C	T	50368774	2	4	415	1	0	0	0	0	0	0	0	1	13084	610	22	2		2	RASSF1	3	50368774	Silent	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	16918024	50368774	147653656	7	35982											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-													ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					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.E109del(3)|p.G106_R108del(1)		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)	AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		4	Deletion - In frame(4)	p.E109del(3)|p.G106_R108del(1)	endometrium(2)|large_intestine(1)|lung(1)	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						c.(325-327)del		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916938_178916940delGAA		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.325_327delGAA	3.37:g.178916941_178916943delGAA	ENSP00000263967:p.Glu110del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E110del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	482_484	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		110					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.325_327delGAA	CCDS43171.1																																																																																				0.34	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			41	80						41	80	---	---	---	---	-	178916940	GAA	-	178916938	7	5	415	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-S9-A6TW-01A-12D-A32B-08	128548164	178916938	19105492	8	35983											
PIK3CA	5290	broad.mit.edu	37	chr3	178921551	178921551	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtgcaacctacgtgAatgtaaatattcgagacatt	7	7	1	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178921551A>T	ENST00000263967.3	+	5	1190	c.1033A>T	c.(1033-1035)Aat>Tat	p.N345Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	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)	AACCTACGTGAATGTAAATAT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				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						c.(1033-1035)Aat>Tat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67	66	66					3																	178921551		1806	4074	5880	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921551A>T		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.1033A>T	3.37:g.178921551A>T	ENSP00000263967:p.Asn345Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1190	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1033A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374510	0.82573	.	.	ENSG00000121879	ENST00000263967	T	0.70749	-0.51	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86489	0.1796	10	0.46703	T	0.11	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	Y	345	ENSP00000263967:N345Y	ENSP00000263967:N345Y	N	+	1	0	PIK3CA	180404245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			24	59	0	0	0	1	0	24	59					T	178921551	A	T	178921551	3	4	415	1	0	0	0	0	1	0	0	0	11913	246	9	5	1047	5	PIK3CA	3	178921551	Missense_Mutation	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08	4613	178921551	19100879	9	35984											
MAP3K13	9175	broad.mit.edu	37	chr3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccatagtgactttgccGcaatcttgaaaaaccagcca	8	12	1	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1810-1812)Gca>Aca		mitogen-activated protein kinase kinase kinase 13							267	290	282					3																	185190929		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190929G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1810G>A	3.37:g.185190929G>A	ENSP00000265026:p.Ala604Thr					MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T	p.A604T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	2144	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		604						Missense_Mutation	SNP	ENST00000265026.3	37	c.1810G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628329	0.28978	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.47	3.66	0.41972	Protein kinase-like domain (1);	0.272838	0.34156	N	0.004210	T	0.33585	0.0868	N	0.14661	0.345	0.20074	N	0.999937	B;B;B	0.20671	0.047;0.047;0.01	B;B;B	0.17433	0.018;0.018;0.008	T	0.20672	-1.0268	10	0.37606	T	0.19	.	10.9504	0.47325	0.0684:0.0:0.8033:0.1283	.	460;397;604	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	397;604;460;460;604	ENSP00000411483:A397T;ENSP00000399910:A604T;ENSP00000409325:A460T;ENSP00000439257:A460T;ENSP00000265026:A604T	ENSP00000265026:A604T	A	+	1	0	MAP3K13	186673623	1.000000	0.71417	0.015000	0.15790	0.037000	0.13140	5.110000	0.64622	1.291000	0.44653	-0.268000	0.10319	GCA		0.507	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		5	392	0	0	0	1	0	5	392					A	185190929	G	A	185190929	3	1	415	1	0	0	0	0	1	0	0	0	9247	1087	38	1	1848	1	MAP3K13	3	185190929	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	6269378	185190929	12831501	10	35985											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754997	140754997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacaccaacgacaacccGcccaccttcccccattcatc	4	21	1	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr5:140754997G>A	ENST00000517434.1	+	1	1347	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	449	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCCACCTTCC	0.512																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1345-1347)ccG>ccA									139	153	148					5																	140754997		2108	4241	6349	SO:0001819	synonymous_variant	0							g.chr5:140754997G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1347G>A	5.37:g.140754997G>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.P449P	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1347	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1347G>A	CCDS54926.1																																																																																				0.512	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		6	179	0	0	0	1	0	6	179					A	140754997	G	A	140754997	2	1	415	1	0	0	0	0	0	0	0	1	11558	1074	38	1		1	PCDHGA6	5	140754997	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		140754997	40160263	11	35986											
JARID2	3720	broad.mit.edu	37	chr6	15374364	15374364	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgacagtgatgggaTtccgtggtcagaagaacggg	16	6	2	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:15374364T>G	ENST00000341776.2	+	2	306	c.62T>G	c.(61-63)aTt>aGt	p.I21S	JARID2_ENST00000397311.3_De_novo_Start_InFrame	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	21					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)				AGTGATGGGATTCCGTGGTCA	0.413																																						ENST00000341776.2																			0				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						c.(61-63)aTt>aGt		jumonji, AT rich interactive domain 2							217	208	211					6																	15374364		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15374364T>G	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.62T>G	6.37:g.15374364T>G	ENSP00000341280:p.Ile21Ser					JARID2_ENST00000397311.3_De_novo_Start_InFrame	p.I21S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			2	306	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	21					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.62T>G	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302380	0.81136	.	.	ENSG00000008083	ENST00000341776	T	0.53206	0.63	5.14	5.14	0.70334	.	0.052610	0.85682	D	0.000000	T	0.38108	0.1028	L	0.53249	1.67	0.80722	D	1	P	0.47762	0.9	P	0.44811	0.461	T	0.45527	-0.9255	10	0.87932	D	0	-7.3088	14.9919	0.71396	0.0:0.0:0.0:1.0	.	21	Q92833	JARD2_HUMAN	S	21	ENSP00000341280:I21S	ENSP00000341280:I21S	I	+	2	0	JARID2	15482343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.938000	0.56188	0.533000	0.62120	ATT		0.413	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		78	168	0	0	0	1	0	78	168					G	15374364	T	G	15374364	3	3	415	1	0	0	0	0	1	0	0	0	7945	1493	52	5	68	5	JARID2	6	15374364	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08		15374364	155740703	12	35987											
TBC1D22B	55633	broad.mit.edu	37	chr6	37298922	37298922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcaagtacatgtttgccGatgccccaaatcactaccgc	7	14	2	0	rs371136817		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:37298922G>A	ENST00000373491.3	+	13	1638	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	498							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CATGTTTGCCGATGCCCCAAA	0.547																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(1492-1494)Gat>Aat		TBC1 domain family, member 22B		G	ASN/ASP	0,4406		0,0,2203	125	111	116		1492	5.1	0.5	6		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	TBC1D22B	NM_017772.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	498/506	37298922	1,13005	2203	4300	6503	SO:0001583	missense	55633					intracellular	Rab GTPase activator activity	g.chr6:37298922G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1492G>A	6.37:g.37298922G>A	ENSP00000362590:p.Asp498Asn						p.D498N	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		13	1638	+			498					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	c.1492G>A	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550645	0.86127	0.0	1.16E-4	ENSG00000065491	ENST00000373491	T	0.15017	2.46	5.93	5.07	0.68467	.	0.051440	0.85682	N	0.000000	T	0.06280	0.0162	L	0.42529	1.33	0.80722	D	1	P	0.38642	0.641	B	0.30495	0.116	T	0.21348	-1.0248	10	0.25751	T	0.34	.	13.9203	0.63928	0.0738:0.0:0.9262:0.0	.	498	Q9NU19	TB22B_HUMAN	N	498	ENSP00000362590:D498N	ENSP00000362590:D498N	D	+	1	0	TBC1D22B	37406900	1.000000	0.71417	0.473000	0.27253	0.988000	0.76386	9.398000	0.97281	1.518000	0.48934	0.655000	0.94253	GAT		0.547	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		4	114	0	0	0	1	0	4	114					A	37298922	G	A	37298922	3	1	415	1	0	0	0	0	1	0	0	0	15609	1058	37	1	1542	1	TBC1D22B	6	37298922	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	21924558	37298922	133816145	13	35988											
SLC35F1	222553	broad.mit.edu	37	chr6	118606389	118606389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcatgtttggtctctAcagctttatgccagtcgtca	9	11	2	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:118606389A>G	ENST00000360388.4	+	7	1091	c.890A>G	c.(889-891)tAc>tGc	p.Y297C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	297					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGGTCTCTACAGCTTTATG	0.507											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(889-891)tAc>tGc		solute carrier family 35, member F1							279	267	271					6																	118606389		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118606389A>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.890A>G	6.37:g.118606389A>G	ENSP00000353557:p.Tyr297Cys		OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489		p.Y297C	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	7	1091	+			297					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.890A>G	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.367832	0.82463	.	.	ENSG00000196376	ENST00000360388	.	.	.	4.82	4.82	0.62117	.	0.135690	0.51477	D	0.000096	T	0.76969	0.4062	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81355	-0.0970	9	0.66056	D	0.02	.	14.8419	0.70233	1.0:0.0:0.0:0.0	.	297	Q5T1Q4	S35F1_HUMAN	C	297	.	ENSP00000353557:Y297C	Y	+	2	0	SLC35F1	118713082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.154000	0.67381	0.533000	0.62120	TAC		0.507	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		75	176	0	0	0	1	0	75	176					G	118606389	A	G	118606389	3	3	415	1	0	0	0	0	1	0	0	0	14588	391	14	3	916	3	SLC35F1	6	118606389	Missense_Mutation	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08	81307467	118606389	52508678	14	35989											
AHI1	54806	broad.mit.edu	37	chr6	135754276	135754276	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatatccgtatcatggaatCatagcatcctgtaactacta	5	11	2	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:135754276C>T	ENST00000367800.4	-	14	2371	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N|AHI1_ENST00000457866.2_Missense_Mutation_p.D719N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	719					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATCATGGAATCATAGCATCCT	0.363																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(2155-2157)Gat>Aat		Abelson helper integration site 1							132	126	128					6																	135754276		1858	4113	5971	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135754276C>T	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2155G>A	6.37:g.135754276C>T	ENSP00000356774:p.Asp719Asn					AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000457866.2_Missense_Mutation_p.D719N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N	p.D719N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	14	2371	-	Breast(56;0.239)|Colorectal(23;0.24)		719					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.2155G>A	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.394014|5.394014	0.96009|0.96009	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602;ENST00000327035;ENST00000367801|ENST00000367799	D;D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.45;-2.45;-2.45|.	5.74|5.74	5.74|5.74	0.90152|0.90152	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|D	0.86431|0.86431	0.5931|0.5931	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	D;D;D|.	0.91635|.	0.933;0.96;0.999|.	D|D	0.89389|0.89389	0.3687|0.3687	10|5	0.87932|.	D|.	0|.	-23.818|-23.818	19.91|19.91	0.97023|0.97023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	719;719;719|.	Q8N157-2;Q8N157;Q4FD35|.	.;AHI1_HUMAN;.|.	N|I	719;719;73;719;719;719|218	ENSP00000356774:D719N;ENSP00000388650:D719N;ENSP00000416867:D73N;ENSP00000265602:D719N;ENSP00000322478:D719N|.	ENSP00000265602:D719N|.	D|M	-|-	1|3	0|0	AHI1|AHI1	135795969|135795969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.294000|7.294000	0.78760|0.78760	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.363	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		25	67	0	0	0	1	0	25	67					T	135754276	C	T	135754276	3	4	415	1	0	0	0	0	1	0	0	0	413	826	29	2	1548	2	AHI1	6	135754276	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	17147887	135754276	35360791	15	35990											
MAD1L1	8379	broad.mit.edu	37	chr7	2255588	2255588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccccagcttcctctgcaGcccttccagctcttcctgga	8	19	2	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:2255588G>A	ENST00000406869.1	-	9	1413	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	MAD1L1_ENST00000399654.2_Silent_p.L286L|MAD1L1_ENST00000265854.7_Silent_p.L286L|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000402746.1_Silent_p.L194L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	286					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCCTCTGCAGCCCTTCCAGC	0.607																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(856-858)Ctg>Ttg		MAD1 mitotic arrest deficient-like 1 (yeast)							128	154	145					7																	2255588		2151	4243	6394	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2255588G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.856C>T	7.37:g.2255588G>A						MAD1L1_ENST00000402746.1_Silent_p.L194L|MAD1L1_ENST00000399654.2_Silent_p.L286L|MAD1L1_ENST00000265854.7_Silent_p.L286L	p.L286L			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	9	1413	-		Ovarian(82;0.0272)	286					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.856C>T	CCDS43539.1																																																																																				0.607	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		51	101	0	0	0	1	0	51	101					A	2255588	G	A	2255588	2	1	415	1	0	0	0	0	0	0	0	1	9147	962	34	2		2	MAD1L1	7	2255588	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		2255588	156883075	16	35991											
CNOT4	4850	broad.mit.edu	37	chr7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtactattgagagaaTtggcatttgtagctgcagca	11	5	0	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:135078909T>C	ENST00000315544.5	-	10	1667	c.1388A>G	c.(1387-1389)aAt>aGt	p.N463S	CNOT4_ENST00000428680.2_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1378-1380)aAt>aGt		CCR4-NOT transcription complex, subunit 4							124	128	127					7																	135078909		1963	4170	6133	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078909T>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1388A>G	7.37:g.135078909T>C	ENSP00000326731:p.Asn463Ser					CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S	p.N460S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			10	1658	-			463					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1379A>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519633	0.44866	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.45276	0.9;0.9;0.93;0.93;0.91;0.91	6.17	6.17	0.99709	.	0.044381	0.85682	D	0.000000	T	0.28699	0.0711	N	0.19112	0.55	0.53688	D	0.999973	B;B;B;P;P;P	0.35872	0.001;0.001;0.39;0.525;0.525;0.525	B;B;B;B;B;B	0.35353	0.001;0.001;0.099;0.201;0.156;0.156	T	0.09818	-1.0657	10	0.10902	T	0.67	-15.4612	16.0034	0.80327	0.0:0.0:0.0:1.0	.	460;463;463;460;463;460	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	463;460;463;463;460;460;463	ENSP00000445508:N463S;ENSP00000388491:N460S;ENSP00000406777:N463S;ENSP00000354673:N460S;ENSP00000399108:N460S;ENSP00000326731:N463S	ENSP00000262563:N463S	N	-	2	0	CNOT4	134729449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.510000	0.60455	2.371000	0.80710	0.533000	0.62120	AAT		0.502	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		28	70	0	0	0	1	0	28	70					C	135078909	T	C	135078909	3	2	415	1	0	0	0	0	1	0	0	0	3621	1493	52	3	653	3	CNOT4	7	135078909	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08	132823321	135078909	24059754	17	35992											
TPD52	7163	broad.mit.edu	37	chr8	80976789	80976791	+	In_Frame_Del	DEL	TCT	TCT	-													cactgatcgtggcagcaacaTcttctccttcctcagggact							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr8:80976789_80976791delTCT	ENST00000379097.3	-	2	539_541	c.177_179delAGA	c.(175-180)gaagat>gat	p.E59del	TPD52_ENST00000518937.1_In_Frame_Del_p.E19del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000520527.1_In_Frame_Del_p.E59del|TPD52_ENST00000517427.1_In_Frame_Del_p.E59del|TPD52_ENST00000448733.2_In_Frame_Del_p.E59del|TPD52_ENST00000537855.1_In_Frame_Del_p.E59del|TPD52_ENST00000379096.5_In_Frame_Del_p.E19del	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	59					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGCAGCAACATCTTCTCCTTCCT	0.448																																						ENST00000379096.5																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(55-60)gat>ga		tumor protein D52																																				SO:0001651	inframe_deletion	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80976789_80976791delTCT	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.177_179delAGA	8.37:g.80976792_80976794delTCT	ENSP00000368391:p.Glu59del					TPD52_ENST00000518937.1_In_Frame_Del_p.ED19del|TPD52_ENST00000448733.2_In_Frame_Del_p.ED59del|TPD52_ENST00000517427.1_In_Frame_Del_p.ED59del|TPD52_ENST00000520527.1_In_Frame_Del_p.ED59del|TPD52_ENST00000537855.1_In_Frame_Del_p.ED59del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000379097.3_In_Frame_Del_p.ED59del	p.ED19del	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		2	171_173	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	59					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	In_Frame_Del	DEL	ENST00000379097.3	37	c.57_59delAGA	CCDS34912.1																																																																																				0.448	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		39	93						39	93	---	---	---	---	-	80976791	TCT	-	80976789	7	5	415	1	0	1	0	1	0	0	0	0	16394	1435	50	0	592	0	TPD52	8	80976789	In_Frame_Del	DEL	TCT	TCGA-S9-A6TW-01A-12D-A32B-08		80976789	65387233	18	35993											
FAM108B1	51104	broad.mit.edu	37	chr9	74489817	74489819	+	In_Frame_Del	DEL	AGA	AGA	-													tcaatagcatctttttctctAgaagaatactgccagtctgc							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:74489817_74489819delAGA	ENST00000333421.6	-	2	289_291	c.178_180delTCT	c.(178-180)tctdel	p.S60del	ABHD17B_ENST00000377041.2_In_Frame_Del_p.S60del	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	60						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CTTTTTCTCTAGAAGAATACTGC	0.419																																						ENST00000333421.6																			0											c.(178-180)del		abhydrolase domain containing 17B																																				SO:0001651	inframe_deletion	51104							g.chr9:74489817_74489819delAGA	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.178_180delTCT	9.37:g.74489820_74489822delAGA	ENSP00000330222:p.Ser60del					ABHD17B_ENST00000377041.2_In_Frame_Del_p.S60del	p.S60del	NM_001025780.1	NP_001020951.1					2	289_291	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	In_Frame_Del	DEL	ENST00000333421.6	37	c.178_180delTCT	CCDS35043.1																																																																																				0.419	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		18	145						18	145	---	---	---	---	-	74489819	AGA	-	74489817	7	5	415	1	0	1	0	1	0	0	0	0	5392	407	15	0	729	0	FAM108B1	9	74489817	In_Frame_Del	DEL	AGA	TCGA-S9-A6TW-01A-12D-A32B-08		74489817	66723614	19	35994											
ASTN2	23245	broad.mit.edu	37	chr9	119249746	119249746	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacaagatgtgcccaggccaGagagtaagtcatcagcaaaa	10	10	2	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:119249746G>C	ENST00000313400.4	-	20	3489	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C|ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C			O75129	ASTN2_HUMAN	astrotactin 2	1130	Fibronectin type-III.				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						GCCCAGGCCAGAGAGTAAGTC	0.512																																						ENST00000313400.4																			0				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						c.(3388-3390)tCt>tGt		astrotactin 2							70	68	69					9																	119249746		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119249746G>C	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.3389C>G	9.37:g.119249746G>C	ENSP00000314038:p.Ser1130Cys					ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C|ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C	p.S1130C			O75129	ASTN2_HUMAN			20	3489	-			1130			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3389C>G		.	.	.	.	.	.	.	.	.	.	G	18.73	3.686137	0.68157	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.19532	2.56;2.56;2.14;2.17;2.39;2.6;2.17	5.49	5.49	0.81192	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D	0.85130	0.993;0.993;0.997;0.993;0.997;0.993;0.993	T	0.13818	-1.0495	10	0.72032	D	0.01	-13.8768	19.7347	0.96198	0.0:0.0:1.0:0.0	.	182;182;1079;1130;1126;182;231	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	C	1130;1126;231;182;853;1079;182	ENSP00000314038:S1130C;ENSP00000363108:S1126C;ENSP00000288520:S231C;ENSP00000339925:S182C;ENSP00000363098:S853C;ENSP00000354504:S1079C;ENSP00000355116:S182C	ENSP00000288520:S231C	S	-	2	0	ASTN2	118289567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.184000	0.94893	2.746000	0.94184	0.655000	0.94253	TCT		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		22	39	0	0	0	1	0	22	39					C	119249746	G	C	119249746	3	2	415	1	0	0	0	0	1	0	0	0	1065	942	33	4	687	4	ASTN2	9	119249746	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	44759929	119249746	21963685	20	35995											
GSN	2934	broad.mit.edu	37	chr9	124080948	124080948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcccctccccaggtctcGgtccttcctgagggcggtga	12	17	1	2	rs145170518		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:124080948G>A	ENST00000373818.4	+	9	1203	c.1134G>A	c.(1132-1134)tcG>tcA	p.S378S	GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000373808.2_Silent_p.S327S|GSN_ENST00000449733.1_Silent_p.S327S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000373823.3_Silent_p.S327S|GSN_ENST00000394353.2_Silent_p.S338S	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	378					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						CCCAGGTCTCGGTCCTTCCTG	0.632																																						ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.(979-981)tcG>tcA		gelsolin							34	37	36					9																	124080948		2203	4300	6503	SO:0001819	synonymous_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124080948G>A	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.1134G>A	9.37:g.124080948G>A						GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000394353.2_Silent_p.S338S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000373818.4_Silent_p.S378S|GSN_ENST00000373808.2_Silent_p.S327S|GSN_ENST00000449733.1_Silent_p.S327S	p.S327S			P06396	GELS_HUMAN			17	1886	+			378					A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	ENST00000373818.4	37	c.981G>A	CCDS6828.1																																																																																				0.632	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		7	33	0	0	0	1	0	7	33					A	124080948	G	A	124080948	2	1	415	1	0	0	0	0	0	0	0	1	6825	1103	39	1		1	GSN	9	124080948	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	4831202	124080948	17132483	21	35996											
SURF4	6836	broad.mit.edu	37	chr9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-													atctgtgactgttaccactcCttcttcttctcatccatgga							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000545297.1_3'UTR	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	267					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)		GTTACCACTCCTTCTTCTTCTCA	0.547																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(799-801)del		surfeit 4				1,4263		0,1,2131						5.4	1			83	1,8253		0,1,4126	no	coding	SURF4	NM_033161.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230378_136230380delCTT		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.799_801delAAG	9.37:g.136230384_136230386delCTT	ENSP00000361057:p.Lys267del					SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	p.K267del	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	928_930	-			267					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	In_Frame_Del	DEL	ENST00000371989.3	37	c.799_801delAAG	CCDS6968.1																																																																																				0.547	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		8	50						8	50	---	---	---	---	-	136230380	CTT	-	136230378	7	5	415	1	0	1	0	1	0	0	0	0	15402	680	24	0	12	0	SURF4	9	136230378	In_Frame_Del	DEL	CTT	TCGA-S9-A6TW-01A-12D-A32B-08	12149430	136230378	4983053	22	35997											
C9orf69	90120	broad.mit.edu	37	chr9	139008643	139008643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagttgttgtacttggtgCgggccaggtgggaggcgcgc	19	8	0	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:139008643C>T	ENST00000418388.1	-	2	606	c.104G>A	c.(103-105)cGc>cAc	p.R35H	C9orf69_ENST00000561457.1_Missense_Mutation_p.A60T			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	35					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)		GTACTTGGTGCGGGCCAGGTG	0.657																																						ENST00000561457.1																			0				endometrium(1)	1						c.(178-180)Gca>Aca		chromosome 9 open reading frame 69							52	62	58					9																	139008643		2010	4149	6159	SO:0001583	missense	90120							g.chr9:139008643C>T		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.104G>A	9.37:g.139008643C>T	ENSP00000453019:p.Arg35His					C9orf69_ENST00000418388.1_Missense_Mutation_p.R35H	p.A60T	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	628	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.178G>A	CCDS59155.1																																																																																				0.657	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		3	46	0	0	0	1	0	3	46					T	139008643	C	T	139008643	3	4	415	1	0	0	0	0	1	0	0	0	2492	768	27	1	233	1	C9orf69	9	139008643	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	2778265	139008643	2204788	23	35998											
CUBN	8029	broad.mit.edu	37	chr10	17142012	17142012	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcacacatacctggttgcTgtgtttcccatcttactgta	7	11	2	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:17142012T>C	ENST00000377833.4	-	14	1822	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	586	CUB 1. {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)	ACCTGGTTGCTGTGTTTCCCA	0.378																																						ENST00000377833.4																			0				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						c.(1756-1758)cAg>cGg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						118	115	116					10																	17142012		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142012T>C	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.1757A>G	10.37:g.17142012T>C	ENSP00000367064:p.Gln586Arg						p.Q586R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			14	1822	-			586			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1757A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	6.449	0.450961	0.12223	.	.	ENSG00000107611	ENST00000377833	T	0.74842	-0.88	5.51	4.38	0.52667	CUB (4);	0.177734	0.27172	N	0.020584	T	0.58380	0.2118	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50224	-0.8853	10	0.09084	T	0.74	.	8.1293	0.31018	0.0:0.2096:0.0:0.7904	.	586	O60494	CUBN_HUMAN	R	586	ENSP00000367064:Q586R	ENSP00000367064:Q586R	Q	-	2	0	CUBN	17182018	0.429000	0.25530	0.997000	0.53966	0.896000	0.52359	0.723000	0.25939	2.091000	0.63221	0.528000	0.53228	CAG		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		44	130	0	0	0	1	0	44	130					C	17142012	T	C	17142012	3	2	415	1	0	0	0	0	1	0	0	0	4051	1580	55	3	9330	3	CUBN	10	17142012	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08		17142012	118392735	24	35999											
PTEN	5728	broad.mit.edu	37	chr10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagatatattcctccaattCaggacccacacgacgggaag	9	11	1	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:89717661C>G	ENST00000371953.3	+	7	2043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(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)		TCCTCCAATTCAGGACCCACA	0.423		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(6)|Deletion - In frame(1)|Unknown(1)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(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						c.(685-687)tCa>tGa		phosphatase and tensin homolog							149	129	136					10																	89717661		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717661C>G	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.686C>G	10.37:g.89717661C>G	ENSP00000361021:p.Ser229*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.S229*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	7	2043	+		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)	229			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.686C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.460257	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.48	5.48	0.80851	.	0.183008	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.118	19.3305	0.94285	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	.	S	+	2	0	PTEN	89707641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.724000	0.68500	2.571000	0.86741	0.585000	0.79938	TCA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		12	96	0	0	0	1	0	12	96					G	89717661	C	G	89717661	4	3	415	1	0	0	0	0	0	1	0	0	12738	838	29	4	712	4	PTEN	10	89717661	Nonsense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	72575649	89717661	45817086	25	36000											
CWF19L1	55280	broad.mit.edu	37	chr10	101996663	101996663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctatctgctgctcctgtgCctgggtaatgaaggcatctt	10	11	3	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:101996663C>A	ENST00000354105.4	-	12	1404	c.1318G>T	c.(1318-1320)Gca>Tca	p.A440S	CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	440							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGCTCCTGTGCCTGGGTAATG	0.483																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1318-1320)Gca>Tca		CWF19-like 1, cell cycle control (S. pombe)							202	188	192					10																	101996663		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101996663C>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1318G>T	10.37:g.101996663C>A	ENSP00000326411:p.Ala440Ser					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Intron	p.A440S	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	12	1404	-		Colorectal(252;0.117)	440					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1318G>T	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709800	0.89018	.	.	ENSG00000095485	ENST00000354105	T	0.21191	2.02	5.28	5.28	0.74379	Histidine triad motif (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.43598	1.365	0.80722	D	1	D;P	0.54397	0.966;0.926	P;P	0.51266	0.664;0.615	T	0.00773	-1.1572	10	0.37606	T	0.19	-12.2848	16.4131	0.83725	0.0:1.0:0.0:0.0	.	144;440	Q69YN2-2;Q69YN2	.;C19L1_HUMAN	S	440	ENSP00000326411:A440S	ENSP00000326411:A440S	A	-	1	0	CWF19L1	101986653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.484000	0.81180	2.471000	0.83476	0.655000	0.94253	GCA		0.483	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		4	172	1	0	0.150653	1	0.150653	4	172					A	101996663	C	A	101996663	3	1	415	1	0	0	0	0	1	0	0	0	4071	739	26	4	310	4	CWF19L1	10	101996663	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	12279002	101996663	33538084	26	36001											
OR51B5	282763	broad.mit.edu	37	chr11	5364396	5364396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcagatggcaataaaaCggtcataggccatggcaagc	13	8	1	1	rs369290068	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:5364396C>T	ENST00000300773.2	-	1	413	c.359G>A	c.(358-360)cGt>cAt	p.R120H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	120					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(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAAAACGGTCATAGGC	0.473													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20852	0.0		0.0	False		,,,				2504	0.0					ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(358-360)cGt>cAt		olfactory receptor, family 51, subfamily B, member 5		C	HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	51	52	51		359	3.9	0.2	11		51	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B5	NM_001005567.2	29	0,6,6492	TT,TC,CC		0.0116,0.1136,0.0462	probably-damaging	120/313	5364396	6,12990	2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364396C>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"GPCR / Class A : Olfactory receptors"	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.359G>A	11.37:g.5364396C>T	ENSP00000300773:p.Arg120His					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.R120H	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	413	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	120					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.359G>A	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211671	0.58452	0.001136	1.16E-4	ENSG00000242180	ENST00000300773	T	0.77489	-1.1	4.76	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000875	T	0.81014	0.4735	M	0.93808	3.46	0.36033	D	0.83952	P	0.35684	0.515	B	0.30572	0.117	D	0.86525	0.1818	10	0.72032	D	0.01	.	11.866	0.52493	0.0:0.9145:0.0:0.0855	.	120	Q9H339	O51B5_HUMAN	H	120	ENSP00000300773:R120H	ENSP00000300773:R120H	R	-	2	0	OR51B5	5320972	0.003000	0.15002	0.229000	0.23960	0.961000	0.63080	1.870000	0.39529	1.255000	0.44051	0.650000	0.86243	CGT		0.473	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		35	39	0	0	0	1	0	35	39					T	5364396	C	T	5364396	3	4	415	1	0	0	0	0	1	0	0	0	11091	536	19	1	583	1	OR51B5	11	5364396	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		5364396	129642120	27	36002											
FERMT3	83706	broad.mit.edu	37	chr11	63988554	63988554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggcagaggcccagctgCgcttcatccaggcctggcag	14	15	1	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:63988554C>T	ENST00000279227.5	+	13	1719	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	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)	p.R538C(1)|p.R542C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCCCAGCTGCGCTTCATCCA	0.662																																						ENST00000279227.5																			2	Substitution - Missense(2)	p.R538C(1)|p.R542C(1)	ovary(2)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(1624-1626)Cgc>Tgc		fermitin family member 3							100	86	91					11																	63988554		2201	4297	6498	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63988554C>T	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.1624C>T	11.37:g.63988554C>T	ENSP00000279227:p.Arg542Cys					FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	p.R542C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			13	1719	+			542			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1624C>T	CCDS8060.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819062	0.71028	.	.	ENSG00000149781	ENST00000345728;ENST00000279227	T;T	0.79454	-1.27;-1.27	4.29	4.29	0.51040	Band 4.1 domain (1);FERM central domain (2);	0.068219	0.56097	D	0.000029	D	0.82944	0.5147	L	0.52905	1.665	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;D	0.65773	0.855;0.938	D	0.83431	0.0038	10	0.54805	T	0.06	-26.3612	11.8234	0.52252	0.176:0.824:0.0:0.0	.	538;542	Q86UX7-2;Q86UX7	.;URP2_HUMAN	C	538;542	ENSP00000339950:R538C;ENSP00000279227:R542C	ENSP00000279227:R542C	R	+	1	0	FERMT3	63745130	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.471000	0.35365	2.386000	0.81285	0.462000	0.41574	CGC		0.662	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		42	65	0	0	0	1	0	42	65					T	63988554	C	T	63988554	3	4	415	1	0	0	0	0	1	0	0	0	5819	768	27	1	1670	1	FERMT3	11	63988554	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	58624158	63988554	71017962	28	36003											
GUCY2C	2984	broad.mit.edu	37	chr12	14804947	14804947	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcattgtgcttgagAtctttgagaatcactcgctg	8	9	3	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:14804947A>G	ENST00000261170.3	-	14	1687	c.1551T>C	c.(1549-1551)gaT>gaC	p.D517D		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	517	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)	TGTGCTTGAGATCTTTGAGAA	0.348																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1549-1551)gaT>gaC		guanylate cyclase 2C (heat stable enterotoxin receptor)							202	184	190					12																	14804947		2201	4299	6500	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14804947A>G		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.1551T>C	12.37:g.14804947A>G							p.D517D	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			14	1687	-			517			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1551T>C	CCDS8664.1																																																																																				0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			19	55	0	0	0	1	0	19	55					G	14804947	A	G	14804947	2	3	415	1	0	0	0	0	0	0	0	1	6896	330	12	3		3	GUCY2C	12	14804947	Silent	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08		14804947	119046948	29	36004											
PPM1H	57460	broad.mit.edu	37	chr12	63195840	63195840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcctgcagctgctccGtgatgtggtgctgcagcagg	15	11	0	1	rs201631911	byFrequency	TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:63195840G>A	ENST00000228705.6	-	3	812	c.512C>T	c.(511-513)aCg>aTg	p.T171M		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	171	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CAGCTGCTCCGTGATGTGGTG	0.667																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(511-513)aCg>aTg		protein phosphatase, Mg2+/Mn2+ dependent, 1H							36	41	39					12																	63195840		2138	4230	6368	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63195840G>A	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.512C>T	12.37:g.63195840G>A	ENSP00000228705:p.Thr171Met						p.T171M	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	3	812	-			171			PP2C-like.		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.512C>T	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779633	0.31502	.	.	ENSG00000111110	ENST00000228705	T	0.09350	2.99	4.46	2.1	0.27182	Protein phosphatase 2C-like (3);	0.411149	0.26757	N	0.022642	T	0.04815	0.0130	N	0.13272	0.32	0.28151	N	0.929393	B	0.06786	0.001	B	0.09377	0.004	T	0.34179	-0.9839	9	.	.	.	4.2767	4.2465	0.10674	0.2037:0.2426:0.5536:0.0	.	171	Q9ULR3	PPM1H_HUMAN	M	171	ENSP00000228705:T171M	.	T	-	2	0	PPM1H	61482107	0.492000	0.26027	0.697000	0.30258	0.905000	0.53344	3.797000	0.55514	0.970000	0.38263	0.462000	0.41574	ACG		0.667	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		16	42	0	0	0	1	0	16	42					A	63195840	G	A	63195840	3	1	415	1	0	0	0	0	1	0	0	0	12341	1145	40	1	1064	1	PPM1H	12	63195840	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	48390893	63195840	70656055	30	36005											
C12orf51	283450	broad.mit.edu	37	chr12	112605213	112605215	+	In_Frame_Del	DEL	AGA	AGA	-													ctcgcccaccagcgtcttccAgaaggagggcaggaggtcca							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:112605213_112605215delAGA	ENST00000430131.2	-	71	12319_12321	c.11174_11176delTCT	c.(11173-11178)ttctgg>tgg	p.F3725del	HECTD4_ENST00000550722.1_In_Frame_Del_p.F4001del|HECTD4_ENST00000377560.5_In_Frame_Del_p.F3975del			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3725	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										AGCGTCTTCCAGAAGGAGGGCAG	0.606																																						ENST00000550722.1																			0											c.(12001-12006)tgg>t		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001651	inframe_deletion	283450							g.chr12:112605213_112605215delAGA	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.11174_11176delTCT	12.37:g.112605213_112605215delAGA	ENSP00000404379:p.Phe3725del					HECTD4_ENST00000430131.2_In_Frame_Del_p.FW3725del|HECTD4_ENST00000377560.5_In_Frame_Del_p.FW3975del	p.FW4001del	NM_001109662.3	NP_001103132.3					72	12397_12399	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	In_Frame_Del	DEL	ENST00000430131.2	37	c.12002_12004delTCT																																																																																					0.606	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		10	64						10	64	---	---	---	---	-	112605215	AGA	-	112605213	7	5	415	1	0	1	0	1	0	0	0	0	1696	188	7	0	834	0	C12orf51	12	112605213	In_Frame_Del	DEL	AGA	TCGA-S9-A6TW-01A-12D-A32B-08	49409373	112605213	21246682	31	36006											
ADCY4	196883	broad.mit.edu	37	chr14	24791834	24791834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggtgacttacctggCgagccaggacaaggagggtg	18	8	0	1	rs572851950		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr14:24791834C>T	ENST00000310677.4	-	20	2536	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	808					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)		ACTTACCTGGCGAGCCAGGAC	0.557																																						ENST00000310677.4																			0				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						c.(2422-2424)cGc>cAc		adenylate cyclase 4							87	85	86					14																	24791834		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791834C>T	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.2423G>A	14.37:g.24791834C>T	ENSP00000312126:p.Arg808His					ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H	p.R808H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	20	2536	-			808					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2423G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791991	0.90453	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.80824	-1.42;-1.42;-1.42	4.55	4.55	0.56014	.	0.000000	0.39475	N	0.001354	D	0.88496	0.6452	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.56751	0.805	D	0.90467	0.4450	10	0.62326	D	0.03	.	14.8366	0.70190	0.0:1.0:0.0:0.0	.	808	Q8NFM4	ADCY4_HUMAN	H	808	ENSP00000312126:R808H;ENSP00000452250:R808H;ENSP00000393177:R808H	ENSP00000312126:R808H	R	-	2	0	ADCY4	23861674	0.425000	0.25498	1.000000	0.80357	0.983000	0.72400	4.523000	0.60545	2.372000	0.80975	0.563000	0.77884	CGC		0.557	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			14	21	0	0	0	1	0	14	21					T	24791834	C	T	24791834	3	4	415	1	0	0	0	0	1	0	0	0	296	768	27	1	838	1	ADCY4	14	24791834	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		24791834	82557706	32	36007											
THSD4	79875	broad.mit.edu	37	chr15	72020942	72020942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggaactgggcaattgatcGaccaggaaaatacgagggcg	15	7	0	1	rs562013393		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr15:72020942G>T	ENST00000355327.3	+	9	1546	c.1412G>T	c.(1411-1413)cGa>cTa	p.R471L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L|THSD4_ENST00000357769.4_Missense_Mutation_p.R111L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	471					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						GCAATTGATCGACCAGGAAAA	0.527																																						ENST00000355327.3																			0				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						c.(1411-1413)cGa>cTa		thrombospondin, type I, domain containing 4							158	148	151					15																	72020942		1929	4120	6049	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72020942G>T	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.1412G>T	15.37:g.72020942G>T	ENSP00000347484:p.Arg471Leu					THSD4_ENST00000357769.4_Missense_Mutation_p.R111L|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L|THSD4_ENST00000567838.1_3'UTR	p.R471L			Q6ZMP0	THSD4_HUMAN			9	1546	+			471					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1412G>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619085	0.66787	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.49432	0.78;0.78;0.78	5.17	5.17	0.71159	ADAM-TS Spacer 1 (1);	0.185873	0.47093	D	0.000242	T	0.28699	0.0711	N	0.04787	-0.16	0.43628	D	0.996015	P;P;B;P	0.52170	0.751;0.69;0.345;0.951	B;B;B;B	0.43728	0.308;0.188;0.146;0.429	T	0.10706	-1.0618	10	0.11182	T	0.66	.	16.1685	0.81786	0.0:0.0:1.0:0.0	.	111;111;471;471	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	L	471;471;111	ENSP00000347484:R471L;ENSP00000261862:R471L;ENSP00000350413:R111L	ENSP00000261862:R471L	R	+	2	0	THSD4	69807996	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	7.692000	0.84203	2.404000	0.81709	0.462000	0.41574	CGA		0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		14	118	1	0	4.93089e-13	1	5.25247e-13	14	118					T	72020942	G	T	72020942	3	4	415	1	0	0	0	0	1	0	0	0	15875	1058	37	4	1442	4	THSD4	15	72020942	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		72020942	30510450	33	36008											
PPL	5493	broad.mit.edu	37	chr16	4934534	4934534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcagctccacatcgatGctctcggcaaaggcgctcgc	11	16	1	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr16:4934534G>A	ENST00000345988.2	-	22	4211	c.4122C>T	c.(4120-4122)agC>agT	p.S1374S	PPL_ENST00000590782.2_Silent_p.S1372S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1374					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACATCGATGCTCTCGGCAA	0.677																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4120-4122)agC>agT		periplakin							87	94	91					16																	4934534		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934534G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4122C>T	16.37:g.4934534G>A						PPL_ENST00000590782.2_Silent_p.S1372S	p.S1374S	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4211	-			1374					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4122C>T	CCDS10526.1																																																																																				0.677	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	206	0	0	0	1	0	5	206					A	4934534	G	A	4934534	2	1	415	1	0	0	0	0	0	0	0	1	12334	1310	46	2		2	PPL	16	4934534	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		4934534	85420219	34	36009											
MYH10	4628	broad.mit.edu	37	chr17	8526520	8526521	+	Frame_Shift_Del	DEL	AA	AA	-													tagatgacagccctgtccacAaagagatacctctctggatc							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:8526520_8526521delAA	ENST00000269243.4	-	2	182_183	c.44_45delTT	c.(43-45)tttfs	p.F15fs	MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000360416.3_Frame_Shift_Del_p.F15fs	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	15					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						CCCTGTCCACAAAGAGATACCT	0.48																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(43-45)tfs		myosin, heavy chain 10, non-muscle																																				SO:0001589	frameshift_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8526520_8526521delAA	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.44_45delTT	17.37:g.8526520_8526521delAA	ENSP00000269243:p.Phe15fs					MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000269243.4_Frame_Shift_Del_p.F15fs	p.F15fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			2	182_183	-			15			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Frame_Shift_Del	DEL	ENST00000269243.4	37	c.44_45delTT	CCDS11144.1																																																																																				0.48	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			25	92						25	92	---	---	---	---	-	8526521	AA	-	8526520	7	5	415	1	0	1	0	1	0	0	0	0	10030	127	5	0	6045	0	MYH10	17	8526520	Frame_Shift_Del	DEL	AA	TCGA-S9-A6TW-01A-12D-A32B-08		8526520	72668690	35	36010											
CD300LD	100131439	broad.mit.edu	37	chr17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtgggtgctcttgagcGgggacctgtgggaacacggt	19	7	1	1	rs201880339		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:72576247G>A	ENST00000375352.1	-	4	559	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	160					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17952	0.0		0.001	False		,,,				2504	0.0					ENST00000375352.1																			0				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						c.(478-480)cCg>cTg		CD300 molecule-like family member d		G	LEU/PRO	0,3136		0,0,1568	42	42	42		479	-0.4	0.3	17		42	1,7163		0,1,3581	no	missense	CD300LD	NM_001115152.1	98	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	160/195	72576247	1,10299	1568	3582	5150	SO:0001583	missense	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72576247G>A		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"Immunoglobulin superfamily / V-set domain containing"	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.479C>T	17.37:g.72576247G>A	ENSP00000364501:p.Pro160Leu						p.P160L	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN			4	559	-			160						Missense_Mutation	SNP	ENST00000375352.1	37	c.479C>T	CCDS42379.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.015	-1.547783	0.00926	0.0	1.4E-4	ENSG00000204345	ENST00000375352	T	0.03607	3.87	3.36	-0.452	0.12205	.	2.080600	0.03257	N	0.182736	T	0.00998	0.0033	N	0.00313	-1.665	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.43750	-0.9372	10	0.11182	T	0.66	.	0.7501	0.00989	0.472:0.2072:0.1202:0.2006	.	160	Q6UXZ3	CLM4_HUMAN	L	160	ENSP00000364501:P160L	ENSP00000364501:P160L	P	-	2	0	CD300LD	70087842	0.046000	0.20272	0.265000	0.24526	0.001000	0.01503	0.078000	0.14761	-0.104000	0.12154	-1.486000	0.00981	CCG		0.572	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152		3	13	0	0	0	1	0	3	13					A	72576247	G	A	72576247	3	1	415	1	0	0	0	0	1	0	0	0	3000	1116	39	1	109	1	CD300LD	17	72576247	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	64049727	72576247	8618963	36	36011											
THEG	51298	broad.mit.edu	37	chr19	367082	367082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggccaagtgaaggaggCggttatggtctgacacatgt	14	7	1	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:367082C>T	ENST00000342640.4	-	7	938	c.896G>A	c.(895-897)cGc>cAc	p.R299H	THEG_ENST00000346878.2_Missense_Mutation_p.R275H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	299					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				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)		GTGAAGGAGGCGGTTATGGTC	0.572																																						ENST00000342640.4																			0				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						c.(895-897)cGc>cAc		theg spermatid protein							185	176	179					19																	367082		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:367082C>T	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.896G>A	19.37:g.367082C>T	ENSP00000340088:p.Arg299His					THEG_ENST00000346878.2_Missense_Mutation_p.R275H	p.R299H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		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)	7	938	-		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)	299					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.896G>A	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.36|12.36	1.914457|1.914457	0.33815|0.33815	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000530711|ENST00000342640;ENST00000346878	.|T;T	.|0.71698	.|-0.59;-0.59	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|0.000000	.|0.47852	.|D	.|0.000203	T|T	0.81791|0.81791	0.4897|0.4897	M|M	0.77313|0.77313	2.365|2.365	0.24662|0.24662	N|N	0.993465|0.993465	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.997;0.998	T|T	0.71626|0.71626	-0.4536|-0.4536	6|10	0.87932|0.87932	D|D	0|0	-10.0035|-10.0035	10.4202|10.4202	0.44346|0.44346	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|275;299	.|Q9P2T0-2;Q9P2T0	.|.;THEG_HUMAN	T|H	77|299;275	.|ENSP00000340088:R299H;ENSP00000264820:R275H	ENSP00000431699:A77T|ENSP00000340088:R299H	A|R	-|-	1|2	0|0	THEG|THEG	318082|318082	0.979000|0.979000	0.34478|0.34478	0.254000|0.254000	0.24359|0.24359	0.135000|0.135000	0.20990|0.20990	2.551000|2.551000	0.45820|0.45820	2.149000|2.149000	0.67028|0.67028	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.572	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			41	114	0	0	0	1	0	41	114					T	367082	C	T	367082	3	4	415	1	0	0	0	0	1	0	0	0	15854	768	27	1	251	1	THEG	19	367082	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		367082	58761901	37	36012											
CIC	23152	broad.mit.edu	37	chr19	42791390	42791391	+	Frame_Shift_Ins	INS	-	-	G													cagagagtgaccatgatgatINSgcgtgagttccctgaggcct							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:42791390_42791391insG	ENST00000575354.2	+	3	490_491	c.450_451insG	c.(451-453)gccfs	p.A151fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A1060fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A151fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	151					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)				ACCATGATGATGCGTGAGTTCC	0.649			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3175-3180)gaccttfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791390_42791391insG	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.451dupG	19.37:g.42791391_42791391dupG	ENSP00000458663:p.Ala151fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.DL150fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.DL150fs	p.DL1059fs			Q96RK0	CIC_HUMAN			4	3245_3246	+		Prostate(69;0.00682)	150			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.3177_3178insG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			13	7						13	7	---	---	---	---	G	42791391	-	G	42791390	7	5	415	1	0	1	1	0	0	0	0	0	3424	1461	51	0	460	0	CIC	19	42791390	Frame_Shift_Ins	INS	-	TCGA-S9-A6TW-01A-12D-A32B-08	42424308	42791390	16337593	38	36013											
SIGLEC12	89858	broad.mit.edu	37	chr19	51995064	51995064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggggctgtcatctgccGgggattcaatcaggggtccc	17	10	4	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:51995064G>A	ENST00000291707.3	-	8	1674	c.1619C>T	c.(1618-1620)cCg>cTg	p.P540L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	540					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)		GTCATCTGCCGGGGATTCAAT	0.622																																						ENST00000291707.3																			0				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						c.(1618-1620)cCg>cTg		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							39	40	40					19																	51995064		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51995064G>A	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.1619C>T	19.37:g.51995064G>A	ENSP00000291707:p.Pro540Leu					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L	p.P540L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1674	-		all_neural(266;0.0199)	540					Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1619C>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.080946	0.01888	.	.	ENSG00000254521	ENST00000291707	T	0.41758	0.99	2.79	-5.58	0.02512	.	.	.	.	.	T	0.15089	0.0364	N	0.19112	0.55	0.09310	N	1	B;P	0.35780	0.119;0.52	B;B	0.23716	0.012;0.048	T	0.12066	-1.0562	9	0.20046	T	0.44	.	0.7265	0.00949	0.3673:0.2132:0.262:0.1575	.	540;422	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	L	540	ENSP00000291707:P540L	ENSP00000291707:P540L	P	-	2	0	SIGLEC12	56686876	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.793000	0.01755	-2.512000	0.00503	-0.403000	0.06358	CCG		0.622	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		11	11	0	0	0	1	0	11	11					A	51995064	G	A	51995064	3	1	415	1	0	0	0	0	1	0	0	0	14308	1116	39	1	172	1	SIGLEC12	19	51995064	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	9203674	51995064	7133919	39	36014											
ZNF175	7728	broad.mit.edu	37	chr19	52090031	52090031	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcacaaagaaagatgaGcaaaatcaaattcaacccat	6	10	2	3			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:52090031G>T	ENST00000262259.2	+	5	805	c.447G>T	c.(445-447)gaG>gaT	p.E149D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	149					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGAAAGATGAGCAAAATCAAA	0.393																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(445-447)gaG>gaT		zinc finger protein 175							86	83	84					19																	52090031		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090031G>T	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.447G>T	19.37:g.52090031G>T	ENSP00000262259:p.Glu149Asp					ZNF175_ENST00000436511.2_Intron	p.E149D	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	805	+		all_neural(266;0.0299)	149					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.447G>T	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	5.414	0.261596	0.10239	.	.	ENSG00000105497	ENST00000262259	T	0.07327	3.2	2.2	-1.26	0.09376	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.22276	0.067	B	0.12156	0.007	T	0.41502	-0.9505	9	0.40728	T	0.16	.	3.3351	0.07098	0.2654:0.0:0.5309:0.2037	.	149	Q9Y473	ZN175_HUMAN	D	149	ENSP00000262259:E149D	ENSP00000262259:E149D	E	+	3	2	ZNF175	56781843	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.189000	0.17037	-0.208000	0.10171	-0.136000	0.14681	GAG		0.393	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		3	37	1	0	0.115264	1	0.117665	3	37					T	52090031	G	T	52090031	3	4	415	1	0	0	0	0	1	0	0	0	17742	962	34	4	461	4	ZNF175	19	52090031	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	94967	52090031	7038952	40	36015											
PIGU	128869	broad.mit.edu	37	chr20	33225719	33225719	+	Frame_Shift_Del	DEL	G	G	-													ggatgtaacgcatttccataGgggtccggatgagttcggcc							TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr20:33225719delG	ENST00000374820.2	-	4	349	c.329delC	c.(328-330)cctfs	p.P110fs	PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	130					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						CATTTCCATAGGGGTCCGGAT	0.423																																						ENST00000374820.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(328-330)ctfs		phosphatidylinositol glycan anchor biosynthesis, class U							106	101	103					20																	33225719		2203	4300	6503	SO:0001589	frameshift_variant	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33225719delG	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.329delC	20.37:g.33225719delG	ENSP00000363953:p.Pro110fs					PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs	p.P110fs			Q9H490	PIGU_HUMAN			4	349	-			130					Q7Z489|Q8N2F2	Frame_Shift_Del	DEL	ENST00000374820.2	37	c.329delC																																																																																					0.423	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		37	71						37	71	---	---	---	---	-	33225719	G	-	33225719	7	5	415	1	0	1	0	1	0	0	0	0	11900	1000	35	0	950	0	PIGU	20	33225719	Frame_Shift_Del	DEL	G	TCGA-S9-A6TW-01A-12D-A32B-08		33225719	29799801	41	36016											
BCORL1	63035	broad.mit.edu	37	chrX	129149824	129149824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaacttatattggacgtgGttccgagcagcaggaggggc	16	7	0	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chrX:129149824G>T	ENST00000218147.7	+	4	3273	c.3076G>T	c.(3076-3078)Gtt>Ttt	p.V1026F	BCORL1_ENST00000540052.1_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F|BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1026					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						ATTGGACGTGGTTCCGAGCAG	0.592																																						ENST00000540052.1																			0				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						c.(3076-3078)Gtt>Ttt		BCL6 corepressor-like 1							78	71	73					X																	129149824		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149824G>T	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.3076G>T	X.37:g.129149824G>T	ENSP00000218147:p.Val1026Phe					BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1026F	p.V1026F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	3120	+			1026					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3076G>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.22|12.22	1.872271|1.872271	0.33069|0.33069	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.45276	.|0.91;1.28;0.9;0.91;1.36	5.17|5.17	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.33346	.|N	.|0.005019	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|D;D	.|0.71674	.|0.998;0.99	.|P;P	.|0.59703	.|0.862;0.643	T|T	0.10567|0.10567	-1.0624|-1.0624	5|10	.|0.66056	.|D	.|0.02	-8.0409|-8.0409	5.7387|5.7387	0.18081|0.18081	0.0804:0.1326:0.6484:0.1386|0.0804:0.1326:0.6484:0.1386	.|.	.|1026;1026	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	V|F	461|1026;1026;1026;1026;626	.|ENSP00000218147:V1026F;ENSP00000307541:V1026F;ENSP00000352253:V1026F;ENSP00000437775:V1026F;ENSP00000399483:V626F	.|ENSP00000218147:V1026F	G|V	+|+	2|1	0|0	BCORL1|BCORL1	128977505|128977505	0.997000|0.997000	0.39634|0.39634	0.984000|0.984000	0.44739|0.44739	0.605000|0.605000	0.37080|0.37080	1.361000|1.361000	0.34136|0.34136	2.147000|2.147000	0.66899|0.66899	0.529000|0.529000	0.55759|0.55759	GGT|GTT		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		27	22	1	0	2.79863e-10	1	2.91772e-10	27	22					T	129149824	G	T	129149824	3	4	415	1	0	0	0	0	1	0	0	0	1387	1261	44	4	3086	4	BCORL1	23	129149824	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		129149824	26120736	42	36017											
RNF19B	127544	broad.mit.edu	37	chr1	33411115	33411115	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcctgactagcttacCaacactaactgcagcaataa	7	11	0	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:33411115C>T	ENST00000373456.7	-	5	1263	c.1264G>A	c.(1264-1266)Ggt>Agt	p.G422S	RNF19B_ENST00000235150.4_Splice_Site_p.G421S|RNF19B_ENST00000356990.5_Splice_Site_p.G421S	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	422					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G231C(1)|p.G421C(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTAGCTTACCAACACTAACT	0.463																																						ENST00000356990.5																			2	Substitution - Missense(2)	p.G231C(1)|p.G421C(1)	endometrium(2)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.e5+1		ring finger protein 19B							226	191	203					1																	33411115		2203	4300	6503	SO:0001630	splice_region_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33411115C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1264+1G>A	1.37:g.33411115C>T						RNF19B_ENST00000235150.4_Splice_Site_p.G421_splice|RNF19B_ENST00000373456.7_Splice_Site_p.G422_splice	p.G421_splice	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			5	1260	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	422					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Splice_Site	SNP	ENST00000373456.7	37	c.1261_splice	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	36	5.630082	0.96671	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.48522	0.81;1.02;1.03	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.60078	-0.7333	9	.	.	.	.	19.0119	0.92877	0.0:1.0:0.0:0.0	.	421;422;421	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	S	422;421;421;320	ENSP00000362555:G422S;ENSP00000349482:G421S;ENSP00000235150:G421S	.	G	-	1	0	RNF19B	33183702	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.815000	0.86186	2.578000	0.87016	0.461000	0.40582	GGT		0.463	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341	Missense_Mutation	12	13	0	0	0	1	0	12	13					T	33411115	C	T	33411115	5	4	416	1	0	0	0	0	0	0	1	0	13471	608	21	2	980	2	RNF19B	1	33411115	Splice_Site	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		33411115	215839506	1	36018											
ZMYND12	84217	broad.mit.edu	37	chr1	42905687	42905687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcttcagcctgaacgattCggcccagacctgcccaaaag	8	14	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:42905687C>T	ENST00000372565.3	-	4	703	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	145						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGAACGATTCGGCCCAGACC	0.433																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(433-435)cGa>cAa		zinc finger, MYND-type containing 12							87	85	86					1																	42905687		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42905687C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.434G>A	1.37:g.42905687C>T	ENSP00000361646:p.Arg145Gln					ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q	p.R145Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			4	703	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	145					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.434G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825100	0.32237	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.65732	-0.17;-0.13	6.01	-0.544	0.11847	Tetratricopeptide-like helical (1);	0.808617	0.11759	N	0.532309	T	0.45538	0.1347	L	0.28458	0.855	0.09310	N	0.999991	B;B	0.23316	0.083;0.008	B;B	0.14578	0.011;0.002	T	0.26430	-1.0103	10	0.31617	T	0.26	-1.1491	10.1467	0.42769	0.0:0.4207:0.0:0.5793	.	35;145	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	Q	145;35	ENSP00000361646:R145Q;ENSP00000398340:R35Q	ENSP00000361646:R145Q	R	-	2	0	ZMYND12	42678274	0.033000	0.19621	0.395000	0.26283	0.970000	0.65996	-0.041000	0.12084	-0.012000	0.14223	0.650000	0.86243	CGA		0.433	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		29	13	0	0	0	1	0	29	13					T	42905687	C	T	42905687	3	4	416	1	0	0	0	0	1	0	0	0	17704	884	31	1	683	1	ZMYND12	1	42905687	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	9494572	42905687	206344934	2	36019											
MED8	112950	broad.mit.edu	37	chr1	43850142	43850143	+	3'UTR	INS	-	-	T													accagagctgcaggtgggcaINStttttttttccttcctggcc							TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:43850142_43850143insT	ENST00000372457.4	-	0	1420_1421				MED8_ENST00000290663.6_Frame_Shift_Ins_p.N295fs|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8						gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGTGGGCATTTTTTTTTCC	0.51																																						ENST00000290663.6																			0				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9						c.(883-885)agcfs		mediator complex subunit 8																																				SO:0001624	3_prime_UTR_variant	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43850142_43850143insT	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.*571->A	1.37:g.43850151_43850151dupT						MED8_ENST00000372457.4_3'UTR	p.S295fs	NM_052877.3	NP_443109.2	Q96G25	MED8_HUMAN			8	927_928	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	0					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Frame_Shift_Ins	INS	ENST00000372457.4	37	c.884_885insA	CCDS487.2																																																																																				0.51	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		3	3						3	3	---	---	---	---	T	43850143	-	T	43850142	6	5	416	0	1	1	1	0	0	0	0	0	9453	214	8	0		0	MED8	1	43850142	3'UTR	INS	-	TCGA-S9-A6TX-01A-21D-A32B-08	944455	43850142	205400479	3	36020											
FUBP1	8880	broad.mit.edu	37	chr1	78425910	78425910	+	Frame_Shift_Del	DEL	T	T	-													gctgccagtgtggatatgcaTttccccatccctggggagca							TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:78425910delT	ENST00000370768.2	-	16	1616	c.1535delA	c.(1534-1536)aatfs	p.N512fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.N512fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	512	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGGATATGCATTTCCCCATCC	0.438			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1534-1536)atfs		far upstream element (FUSE) binding protein 1							54	57	56					1																	78425910		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78425910delT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1535delA	1.37:g.78425910delT	ENSP00000359804:p.Asn512fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.N512fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs	p.N512fs			Q96AE4	FUBP1_HUMAN			16	1622	-			512			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1535delA	CCDS683.1																																																																																				0.438	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		25	13						25	13	---	---	---	---	-	78425910	T	-	78425910	7	5	416	1	0	1	0	1	0	0	0	0	6092	1493	52	0	419	0	FUBP1	1	78425910	Frame_Shift_Del	DEL	T	TCGA-S9-A6TX-01A-21D-A32B-08	34575768	78425910	170824711	4	36021											
C1orf59	113802	broad.mit.edu	37	chr1	109193008	109193008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgatttgccacatataaaGccctgaaaccaaaacgagga	8	10	0	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:109193008G>A	ENST00000370032.5	-	7	1001	c.581C>T	c.(580-582)gCt>gTt	p.A194V	HENMT1_ENST00000402983.1_Missense_Mutation_p.A194V|HENMT1_ENST00000370031.1_Missense_Mutation_p.A194V|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	194					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CACATATAAAGCCCTGAAACC	0.413																																						ENST00000370032.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(580-582)gCt>gTt		HEN1 methyltransferase homolog 1 (Arabidopsis)							67	64	65					1																	109193008		2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109193008G>A		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"HEN1 methyltransferase homolog (Arabidopsis)"	612178	"chromosome 1 open reading frame 59"	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.581C>T	1.37:g.109193008G>A	ENSP00000359049:p.Ala194Val					HENMT1_ENST00000370031.1_Missense_Mutation_p.A194V|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.A194V	p.A194V	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN			7	1001	-			194					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.581C>T	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885067	0.72410	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.36699	1.61;1.71;1.61;1.24	5.39	5.39	0.77823	.	0.057160	0.64402	D	0.000001	T	0.56077	0.1961	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59364	-0.7468	10	0.62326	D	0.03	.	18.7353	0.91751	0.0:0.0:1.0:0.0	.	194	Q5T8I9	HENMT_HUMAN	V	194	ENSP00000385655:A194V;ENSP00000359048:A194V;ENSP00000359049:A194V;ENSP00000403953:A194V	ENSP00000359048:A194V	A	-	2	0	HENMT1	108994531	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	7.942000	0.87708	2.529000	0.85273	0.655000	0.94253	GCT		0.413	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		21	11	0	0	0	1	0	21	11					A	109193008	G	A	109193008	3	1	416	1	0	0	0	0	1	0	0	0	2051	971	34	2	608	2	C1orf59	1	109193008	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	30767098	109193008	140057613	5	36022											
HRNR	388697	broad.mit.edu	37	chr1	152188128	152188128	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgagcgagactctcGgtgacctaagccagaagagt	12	11	1	5			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:152188128G>A	ENST00000368801.2	-	3	6052	c.5977C>T	c.(5977-5979)Cga>Tga	p.R1993*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1993					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)			CGAGACTCTCGGTGACCTAAG	0.572																																						ENST00000368801.2																			0				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						c.(5977-5979)Cga>Tga		hornerin							15	23	21					1																	152188128		1541	3326	4867	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188128G>A	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.5977C>T	1.37:g.152188128G>A	ENSP00000357791:p.Arg1993*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1993*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6052	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1993					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.5977C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	43	10.089199	0.99333	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.67	-1.87	0.07737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.5034	0.11876	0.3913:0.0:0.4576:0.1511	.	.	.	.	X	1993	.	ENSP00000357791:R1993X	R	-	1	2	HRNR	150454752	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.133000	0.10451	-0.233000	0.09797	0.505000	0.49811	CGA		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	484	0	0	0	1	0	8	484					A	152188128	G	A	152188128	4	1	416	1	0	0	0	0	0	1	0	0	7359	1124	39	1	2579	1	HRNR	1	152188128	Nonsense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	42995120	152188128	97062493	6	36023											
LY9	4063	broad.mit.edu	37	chr1	160788073	160788073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttctgtgcgttgggAtcttcagctggtgcatttgg	13	8	3	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:160788073A>G	ENST00000263285.6	+	6	1438	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	LY9_ENST00000368040.1_Missense_Mutation_p.I122V|LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000368037.5_Missense_Mutation_p.I470V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000392203.4_Missense_Mutation_p.I380V			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	470					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)			GTGCGTTGGGATCTTCAGCTG	0.478																																						ENST00000263285.5																			0				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						c.(1408-1410)Atc>Gtc		lymphocyte antigen 9							291	275	280					1																	160788073		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160788073A>G	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.1408A>G	1.37:g.160788073A>G	ENSP00000263285:p.Ile470Val					LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000368035.1_Missense_Mutation_p.I122V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000368040.1_Missense_Mutation_p.I122V	p.I470V	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	1438	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		470					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1408A>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	1.271	-0.613097	0.03690	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.52526	0.66;1.06;1.06;1.06	3.46	-0.0729	0.13737	.	.	.	.	.	T	0.11623	0.0283	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B;B	0.30146	0.103;0.021;0.056;0.056;0.27;0.103	B;B;B;B;B;B	0.25506	0.031;0.005;0.014;0.014;0.061;0.031	T	0.20571	-1.0271	9	0.31617	T	0.26	-7.2947	5.7143	0.17952	0.6298:0.0:0.3702:0.0	.	122;430;340;380;470;470	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	V	470;380;122;470;340;430;282;122	ENSP00000342921:I380V;ENSP00000357019:I122V;ENSP00000263285:I470V;ENSP00000357014:I122V	ENSP00000263285:I470V	I	+	1	0	LY9	159054697	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.321000	0.08018	-0.019000	0.14055	-0.266000	0.10368	ATC		0.478	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		5	100	0	0	0	1	0	5	100					G	160788073	A	G	160788073	3	3	416	1	0	0	0	0	1	0	0	0	9101	333	12	3	1562	3	LY9	1	160788073	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	8599945	160788073	88462548	7	36024											
NLRC4	58484	broad.mit.edu	37	chr2	32476004	32476004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccttgatcagcacttctCggatgagagcctgggcgctg	13	12	2	2	rs368415170		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:32476004C>T	ENST00000404025.2	-	5	1417	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	310	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGCACTTCTCGGATGAGAGC	0.532																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(928-930)cGa>cAa		NLR family, CARD domain containing 4		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	84	76	79		929,929,929	-3.4	0.1	2		79	1,8599		0,1,4299	no	missense,missense,missense	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	310/1025,310/1025,310/1025	32476004	1,13005	2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476004C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.929G>A	2.37:g.32476004C>T	ENSP00000385090:p.Arg310Gln					NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q	p.R310Q			Q9NPP4	NLRC4_HUMAN			5	1417	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		310			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.929G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	3.596	-0.082606	0.07141	0.0	1.16E-4	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.81078	-1.45;-1.45;-1.45	3.26	-3.42	0.04825	.	1.595120	0.03990	N	0.294641	T	0.69433	0.3110	L	0.42245	1.32	0.26558	N	0.973793	B	0.16166	0.016	B	0.11329	0.006	T	0.50617	-0.8807	9	0.11794	T	0.64	-0.1601	6.8942	0.24247	0.0:0.3301:0.1268:0.543	.	310	Q9NPP4	NLRC4_HUMAN	Q	310	ENSP00000354159:R310Q;ENSP00000385428:R310Q;ENSP00000385090:R310Q	ENSP00000354159:R310Q	R	-	2	0	NLRC4	32329508	0.000000	0.05858	0.077000	0.20336	0.045000	0.14185	-0.855000	0.04295	-0.764000	0.04651	0.536000	0.68110	CGA		0.532	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		4	66	0	0	0	1	0	4	66					T	32476004	C	T	32476004	3	4	416	1	0	0	0	0	1	0	0	0	10469	884	31	1	2169	1	NLRC4	2	32476004	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		32476004	210723369	8	36025											
NAT8	9027	broad.mit.edu	37	chr2	73868602	73868602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagagaccaggagtagggCgaggggccccccaagtaaga	15	11	0	2	rs539613764		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:73868602C>T	ENST00000272425.3	-	2	303	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		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						AGGAGTAGGGCGAGGGGCCCC	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		18504	0.0		0.0	False		,,,				2504	0.001					ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(154-156)Gcc>Acc		N-acetyltransferase 8 (GCN5-related, putative)							76	90	85					2																	73868602		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868602C>T	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.154G>A	2.37:g.73868602C>T	ENSP00000272425:p.Ala52Thr						p.A52T	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	303	-			52						Missense_Mutation	SNP	ENST00000272425.3	37	c.154G>A	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261380	0.23051	.	.	ENSG00000144035	ENST00000272425	T	0.36157	1.27	3.86	-3.34	0.04943	.	0.911310	0.09413	N	0.805565	T	0.19685	0.0473	L	0.42632	1.34	0.09310	N	1	P	0.34546	0.456	B	0.22753	0.041	T	0.13255	-1.0516	10	0.23302	T	0.38	-0.0269	4.0369	0.09733	0.2603:0.2973:0.0:0.4424	.	52	Q9UHE5	NAT8_HUMAN	T	52	ENSP00000272425:A52T	ENSP00000272425:A52T	A	-	1	0	NAT8	73722110	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.349000	0.20055	-0.935000	0.03728	0.644000	0.83932	GCC		0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		38	52	0	0	0	1	0	38	52					T	73868602	C	T	73868602	3	4	416	1	0	0	0	0	1	0	0	0	10179	768	27	1	533	1	NAT8	2	73868602	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	41392598	73868602	169330771	9	36026											
TTC30B	150737	broad.mit.edu	37	chr2	178417025	178417025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacccaggttgatctggCcatcggtctcattctcgccc	8	15	3	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:178417025C>T	ENST00000408939.3	-	1	717	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	156					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTTGATCTGGCCATCGGTCTC	0.592																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(466-468)gGc>gAc		tetratricopeptide repeat domain 30B							199	218	211					2																	178417025		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178417025C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.467G>A	2.37:g.178417025C>T	ENSP00000386181:p.Gly156Asp						p.G156D	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	717	-			156					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.467G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	2.302	-0.359928	0.05138	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.78003	-1.14	4.51	4.51	0.55191	Tetratricopeptide repeat-containing (1);	0.308380	0.41605	D	0.000860	T	0.66567	0.2802	L	0.29908	0.895	0.33713	D	0.615964	B	0.18310	0.027	B	0.25759	0.063	T	0.66925	-0.5800	10	0.17832	T	0.49	.	13.7883	0.63123	0.0:0.7997:0.2003:0.0	.	156	Q8N4P2	TT30B_HUMAN	D	109;156	ENSP00000386181:G156D	ENSP00000386181:G156D	G	-	2	0	TTC30B	178125271	0.948000	0.32251	1.000000	0.80357	0.033000	0.12548	2.597000	0.46214	2.487000	0.83934	0.655000	0.94253	GGC		0.592	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	277	0	0	0	1	0	6	277					T	178417025	C	T	178417025	3	4	416	1	0	0	0	0	1	0	0	0	16696	739	26	2	1534	2	TTC30B	2	178417025	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	104548423	178417025	64782348	10	36027											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	36	0	0	0	1	0	25	36					T	209113112	C	T	209113112	3	4	416	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	30696087	209113112	34086261	11	36028											
SP140L	93349	broad.mit.edu	37	chr2	231249985	231249985	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcgagtgaaaagaaggcGaacatgaatctgaaagacct	11	7	2	5	rs375339347		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:231249985G>A	ENST00000415673.2	+	9	836	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000444636.1_Silent_p.A250A|SP140L_ENST00000243810.6_Silent_p.A250A	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	250						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAGAAGGCGAACATGAATC	0.448																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(748-750)gcG>gcA		SP140 nuclear body protein-like		G		0,3748		0,0,1874	111	111	111		750	-1	0	2		111	3,8211		0,3,4104	no	coding-synonymous	SP140L	NM_138402.4		0,3,5978	AA,AG,GG		0.0365,0.0,0.0251		250/581	231249985	3,11959	1874	4107	5981	SO:0001819	synonymous_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231249985G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.750G>A	2.37:g.231249985G>A						SP140L_ENST00000444636.1_Silent_p.A250A|SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000415673.2_Silent_p.A250A	p.A250A			Q9H930	LY10L_HUMAN			9	750	+			250					Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	c.750G>A	CCDS46538.1																																																																																				0.448	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		23	32	0	0	0	1	0	23	32					A	231249985	G	A	231249985	2	1	416	1	0	0	0	0	0	0	0	1	14963	1045	37	1		1	SP140L	2	231249985	Silent	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	22136873	231249985	11949388	12	36029											
IQCA1	79781	broad.mit.edu	37	chr2	237240097	237240097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttatgaatttgccgccGgattctctgatctgtgagca	11	8	2	3	rs374268870		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:237240097G>A	ENST00000409907.3	-	18	2552	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W|IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	760							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATTTGCCGCCGGATTCTCTGA	0.473																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(2278-2280)Cgg>Tgg		IQ motif containing with AAA domain 1							174	171	172					2																	237240097		2068	4215	6283	SO:0001583	missense	79781						ATP binding	g.chr2:237240097G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2278C>T	2.37:g.237240097G>A	ENSP00000387347:p.Arg760Trp					IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W|IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W	p.R760W			Q86XH1	IQCA1_HUMAN			18	2552	-			760					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.2278C>T	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953889	0.34471	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;T	0.94138	-3.36;-3.36;1.44	5.23	3.3	0.37823	.	0.552403	0.17395	N	0.175788	D	0.94689	0.8287	M	0.77103	2.36	0.09310	N	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.55871	0.676;0.786;0.786	D	0.88269	0.2928	10	0.59425	D	0.04	.	9.2566	0.37586	0.0:0.1279:0.4918:0.3803	.	719;768;760	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	W	760;768;757;719	ENSP00000387347:R760W;ENSP00000311951:R757W;ENSP00000407213:R719W	ENSP00000311951:R757W	R	-	1	2	IQCA1	236904836	0.029000	0.19370	0.055000	0.19348	0.038000	0.13279	0.337000	0.19841	1.174000	0.42811	0.655000	0.94253	CGG		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		7	121	0	0	0	1	0	7	121					A	237240097	G	A	237240097	3	1	416	1	0	0	0	0	1	0	0	0	7802	1115	39	1	198	1	IQCA1	2	237240097	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	5990112	237240097	5959276	13	36030											
CTNNB1	1499	broad.mit.edu	37	chr3	41268826	41268826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgctctagtaataagcCggctattgtagaagctggta	11	7	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr3:41268826C>T	ENST00000349496.5	+	7	1344	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	355					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|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)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|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)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGTAATAAGCCGGCTATTGTA	0.378		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1063-1065)cCg>cTg		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						104	100	101					3																	41268826		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41268826C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1064C>T	3.37:g.41268826C>T	ENSP00000344456:p.Pro355Leu					CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L	p.P355L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	7	1344	+			355					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1064C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727589	0.69074	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.5	4.63	0.57726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.86178	2.8	0.80722	D	1	B;P	0.42692	0.262;0.787	B;B	0.39419	0.084;0.299	T	0.74144	-0.3760	10	0.45353	T	0.12	-7.5661	14.2531	0.66033	0.0:0.9281:0.0:0.0718	.	283;355	B4DSW9;P35222	.;CTNB1_HUMAN	L	355;355;355;348;355	ENSP00000385604:P355L;ENSP00000379486:P355L;ENSP00000344456:P355L;ENSP00000411226:P348L;ENSP00000379488:P355L	ENSP00000344456:P355L	P	+	2	0	CTNNB1	41243830	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.818000	0.86416	1.335000	0.45486	0.591000	0.81541	CCG		0.378	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		24	35	0	0	0	1	0	24	35					T	41268826	C	T	41268826	3	4	416	1	0	0	0	0	1	0	0	0	4016	652	23	1	1086	1	CTNNB1	3	41268826	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		41268826	156753604	14	36031											
ATP8A1	10396	broad.mit.edu	37	chr4	42524203	42524203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcaactcataactctcttCgagtttgagtagcctgttct	6	10	4	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:42524203C>T	ENST00000381668.5	-	22	2152	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	641					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAACTCTCTTCGAGTTTGAGT	0.428																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1921-1923)Gaa>Aaa		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						84	69	74					4																	42524203		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42524203C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1921G>A	4.37:g.42524203C>T	ENSP00000371084:p.Glu641Lys					ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K	p.E641K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			22	2152	-			641					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1921G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898270	0.72639	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.80994	-1.44;-1.44	5.54	5.54	0.83059	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.958	D	0.92367	0.5902	10	0.59425	D	0.04	.	19.8487	0.96730	0.0:1.0:0.0:0.0	.	626;641	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	K	641;626	ENSP00000371084:E641K;ENSP00000264449:E626K	ENSP00000264449:E626K	E	-	1	0	ATP8A1	42218960	1.000000	0.71417	0.722000	0.30670	0.049000	0.14656	6.864000	0.75494	2.748000	0.94277	0.650000	0.86243	GAA		0.428	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		3	39	0	0	0	1	0	3	39					T	42524203	C	T	42524203	3	4	416	1	0	0	0	0	1	0	0	0	1192	893	31	1	1637	1	ATP8A1	4	42524203	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		42524203	148630073	15	36032											
ANKRD17	26057	broad.mit.edu	37	chr4	74000833	74000833	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttaagtttgggacttaCctgtgcatcaatatcaatgg	8	8	3	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:74000833C>T	ENST00000358602.4	-	16	3351		c.e16+1		ANKRD17_ENST00000514252.1_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGGACTTACCTGTGCATCA	0.393																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.e16+1		ankyrin repeat domain 17							155	140	145					4																	74000833		2203	4300	6503	SO:0001630	splice_region_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74000833C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3234+1G>A	4.37:g.74000833C>T						ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000514252.1_Splice_Site		NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		16	3351	-	Breast(15;0.000295)							E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Splice_Site	SNP	ENST00000358602.4	37		CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373311	0.82573	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7957	0.91993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD17	74219697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.074000	0.76791	2.436000	0.82500	0.650000	0.86243	.		0.393	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Intron	29	36	0	0	0	1	0	29	36					T	74000833	C	T	74000833	5	4	416	1	0	0	0	0	0	0	1	0	646	521	18	2	4652	2	ANKRD17	4	74000833	Splice_Site	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	31476630	74000833	117153443	16	36033											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99338034	99338034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcatggttttattacttcTtggaggtgagttgtaattta	9	4	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:99338034T>C	ENST00000408927.3	+	8	1015	c.902T>C	c.(901-903)cTt>cCt	p.L301P	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	301					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTATTACTTCTTGGAGGTGAG	0.348			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"RAP1, GTP-GDP dissociation stimulator 1"			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(901-903)cTt>cCt		RAP1, GTP-GDP dissociation stimulator 1							139	134	136					4																	99338034		1838	4091	5929	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99338034T>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.902T>C	4.37:g.99338034T>C	ENSP00000386153:p.Leu301Pro					RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P	p.L301P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	8	1015	+			301					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.902T>C	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254737	0.80135	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.34	5.34	0.76211	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	L	0.55481	1.735	0.80722	D	1	D;D;D;P;D;D	0.89917	0.997;0.999;0.998;0.946;0.988;1.0	D;D;D;B;P;D	0.83275	0.925;0.996;0.991;0.241;0.51;0.988	T	0.71013	-0.4715	10	0.42905	T	0.14	-7.426	15.4845	0.75555	0.0:0.0:0.0:1.0	.	210;252;253;301;302;302	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	P	253;210;301;302;252;302	ENSP00000369503:L253P;ENSP00000264572:L210P;ENSP00000386153:L301P;ENSP00000407157:L302P;ENSP00000386223:L252P;ENSP00000340454:L302P	ENSP00000264572:L210P	L	+	2	0	RAP1GDS1	99557057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.235000	0.78143	2.240000	0.73641	0.533000	0.62120	CTT		0.348	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		6	90	0	0	0	1	0	6	90					C	99338034	T	C	99338034	3	2	416	1	0	0	0	0	1	0	0	0	13039	1609	56	3	935	3	RAP1GDS1	4	99338034	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	25337201	99338034	91816242	17	36034											
KIF13A	63971	broad.mit.edu	37	chr6	17852203	17852203	+	Frame_Shift_Del	DEL	C	C	-													tacctcaaaactagtgacagCtagttgagataaaccatcta							TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:17852203delC	ENST00000259711.6	-	7	670	c.565delG	c.(565-567)gctfs	p.A189fs	KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			CTAGTGACAGCTAGTTGAGAT	0.333																																						ENST00000378814.5																			0				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						c.(565-567)ctfs		kinesin family member 13A							48	46	47					6																	17852203		1823	4071	5894	SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17852203delC	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.565delG	6.37:g.17852203delC	ENSP00000259711:p.Ala189fs					KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000259711.6_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs	p.A189fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		7	564	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	189			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	c.565delG	CCDS47381.1																																																																																				0.333	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			2	4						2	4	---	---	---	---	-	17852203	C	-	17852203	7	5	416	1	0	1	0	1	0	0	0	0	8274	797	28	0	5009	0	KIF13A	6	17852203	Frame_Shift_Del	DEL	C	TCGA-S9-A6TX-01A-21D-A32B-08		17852203	153262864	18	36035											
GSTA1	2938	broad.mit.edu	37	chr6	52656723	52656723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggcttccttgggctgCcaggctgtagaaacttcttc	13	10	1	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:52656723C>T	ENST00000334575.5	-	7	757	c.602G>A	c.(601-603)gGc>gAc	p.G201D	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	201	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CCTTGGGCTGCCAGGCTGTAG	0.468																																						ENST00000334575.5																			0				large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(601-603)gGc>gAc		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						130	129	129					6																	52656723		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52656723C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"Glutathione S-transferases / Soluble"	4626	protein-coding gene	gene with protein product		138359	"glutathione S-transferase A1"			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.602G>A	6.37:g.52656723C>T	ENSP00000335620:p.Gly201Asp					GSTA1_ENST00000493331.1_5'UTR	p.G201D	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN			7	757	-	Lung NSC(77;0.118)		201			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.602G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.076867	0.36662	.	.	ENSG00000243955	ENST00000334575	T	0.11712	2.75	2.44	2.44	0.29823	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.070062	0.56097	D	0.000035	T	0.21881	0.0527	M	0.78916	2.43	0.43489	D	0.995726	D	0.89917	1.0	D	0.91635	0.999	T	0.04767	-1.0928	10	0.72032	D	0.01	.	12.6394	0.56700	0.0:1.0:0.0:0.0	.	201	P08263	GSTA1_HUMAN	D	201	ENSP00000335620:G201D	ENSP00000335620:G201D	G	-	2	0	GSTA1	52764682	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	4.870000	0.63035	1.048000	0.40298	0.205000	0.17691	GGC		0.468	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			41	72	0	0	0	1	0	41	72					T	52656723	C	T	52656723	3	4	416	1	0	0	0	0	1	0	0	0	6830	739	26	2	70	2	GSTA1	6	52656723	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	34804520	52656723	118458344	19	36036											
HOXA9	3205	broad.mit.edu	37	chr7	27204770	27204770	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatgtacctgccgtccgGcgccgccgccgccacgggcg	15	19	0	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:27204770G>C	ENST00000343483.6	-	1	379	c.307C>G	c.(307-309)Ccg>Gcg	p.P103A	RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A|RP1-170O19.20_ENST00000470747.4_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	103					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CTGCCGTCCGGCGCCGCCGCC	0.711			T	"NUP98, MSI2"	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"NUP98, MSI2"		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(307-309)Ccg>Gcg		homeobox A9							7	10	9					7																	27204770		2044	4038	6082	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204770G>C		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.307C>G	7.37:g.27204770G>C	ENSP00000343619:p.Pro103Ala					RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A	p.P103A	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			1	379	-			103					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.307C>G	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	G	4.597	0.110943	0.08831	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.92699	-3.09	5.36	5.36	0.76844	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000011	D	0.83505	0.5269	N	0.26042	0.785	0.38501	D	0.948226	B	0.10296	0.003	B	0.12156	0.007	T	0.75966	-0.3131	10	0.07813	T	0.8	.	9.0499	0.36369	0.0773:0.1491:0.7737:0.0	.	103	P31269	HXA9_HUMAN	A	103;94;103	ENSP00000343619:P103A	ENSP00000242050:P94A	P	-	1	0	HOXA9	27171295	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.912000	0.56386	2.535000	0.85469	0.561000	0.74099	CCG		0.711	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			9	14	0	0	0	1	0	9	14					C	27204770	G	C	27204770	3	2	416	1	0	0	0	0	1	0	0	0	7298	1203	42	4	519	4	HOXA9	7	27204770	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		27204770	131933893	20	36037											
SAMD9	54809	broad.mit.edu	37	chr7	92730801	92730801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catattctatatataaacaaTtgttttcagctcgaccttgt	4	8	2	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:92730801T>C	ENST00000379958.2	-	3	4879	c.4610A>G	c.(4609-4611)aAt>aGt	p.N1537S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1537						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)			ATATAAACAATTGTTTTCAGC	0.383																																						ENST00000379958.2																			0				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						c.(4609-4611)aAt>aGt		sterile alpha motif domain containing 9							74	79	77					7																	92730801		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92730801T>C	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.4610A>G	7.37:g.92730801T>C	ENSP00000369292:p.Asn1537Ser						p.N1537S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4879	-	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)		1537					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4610A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	3.049	-0.195783	0.06259	.	.	ENSG00000205413	ENST00000379958	T	0.21361	2.01	4.34	4.34	0.51931	.	0.285472	0.25581	U	0.029686	T	0.16300	0.0392	L	0.40543	1.245	0.09310	N	1	B	0.26809	0.16	B	0.26094	0.066	T	0.14420	-1.0473	10	0.23891	T	0.37	.	9.6597	0.39947	0.0:0.0:0.1749:0.8251	.	1537	Q5K651	SAMD9_HUMAN	S	1537	ENSP00000369292:N1537S	ENSP00000369292:N1537S	N	-	2	0	SAMD9	92568737	0.036000	0.19791	0.345000	0.25642	0.557000	0.35523	1.245000	0.32790	1.958000	0.56883	0.496000	0.49642	AAT		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		14	45	0	0	0	1	0	14	45					C	92730801	T	C	92730801	3	2	416	1	0	0	0	0	1	0	0	0	13826	1493	52	3	163	3	SAMD9	7	92730801	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	65526031	92730801	66407862	21	36038											
GRM8	2918	broad.mit.edu	37	chr7	126079206	126079206	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtaactgatatatgtTgtcttggtagaggaagctgt	12	4	1	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:126079206T>C	ENST00000339582.2	-	11	3502	c.2694A>G	c.(2692-2694)acA>acG	p.T898T	GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	898					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)				TGATATATGTTGTCTTGGTAG	0.308										HNSCC(24;0.065)																												ENST00000339582.2																			0				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						c.(2692-2694)acA>acG		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						198	198	198					7																	126079206		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126079206T>C		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.2694A>G	7.37:g.126079206T>C		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR	p.T898T			O00222	GRM8_HUMAN			11	3502	-		Prostate(267;0.186)	898					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2694A>G	CCDS5794.1																																																																																				0.308	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			48	65	0	0	0	1	0	48	65					C	126079206	T	C	126079206	2	2	416	1	0	0	0	0	0	0	0	1	6803	1799	63	3		3	GRM8	7	126079206	Silent	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	33348405	126079206	33059457	22	36039											
KEL	3792	broad.mit.edu	37	chr7	142639988	142639988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgatggctagccccccaaCgtctgcagcattctctaaga	9	15	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:142639988C>T	ENST00000355265.2	-	17	2389	c.1915G>A	c.(1915-1917)Gtt>Att	p.V639I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	639					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCCCCCCAACGTCTGCAGCA	0.507																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1915-1917)Gtt>Att		Kell blood group, metallo-endopeptidase							104	95	98					7																	142639988		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639988C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1915G>A	7.37:g.142639988C>T	ENSP00000347409:p.Val639Ile						p.V639I	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			17	2389	-	Melanoma(164;0.059)		639					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1915G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	0.682	-0.797841	0.02862	.	.	ENSG00000197993	ENST00000355265	D	0.90900	-2.75	4.61	-0.85	0.10720	Peptidase M13, neprilysin, C-terminal (2);	1.710450	0.03316	N	0.191216	T	0.76026	0.3930	N	0.01640	-0.785	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65747	-0.6093	10	0.34782	T	0.22	-4.6215	7.8279	0.29326	0.0:0.4655:0.0:0.5345	.	639	P23276	KELL_HUMAN	I	639	ENSP00000347409:V639I	ENSP00000347409:V639I	V	-	1	0	KEL	142350110	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-0.315000	0.08703	0.655000	0.94253	GTT		0.507	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		14	71	0	0	0	1	0	14	71					T	142639988	C	T	142639988	3	4	416	1	0	0	0	0	1	0	0	0	8142	536	19	1	295	1	KEL	7	142639988	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	16560782	142639988	16498675	23	36040											
PPP2R2A	5520	broad.mit.edu	37	chr8	26196411	26196411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaattatacagcagatAtaatttctacagtagaattt	5	6	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:26196411A>G	ENST00000380737.3	+	3	417	c.88A>G	c.(88-90)Ata>Gta	p.I30V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V|PPP2R2A_ENST00000523473.1_3'UTR	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	30					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAGCAGATATAATTTCTAC	0.353																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(88-90)Ata>Gta		protein phosphatase 2, regulatory subunit B, alpha							65	74	71					8																	26196411		2203	4299	6502	SO:0001583	missense	5520							g.chr8:26196411A>G	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.88A>G	8.37:g.26196411A>G	ENSP00000370113:p.Ile30Val					PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V	p.I30V	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	3	417	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.88A>G	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018909	0.35606	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.28255	1.62;1.62	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.32645	0.0836	M	0.64630	1.985	0.51482	D	0.999925	B;B	0.16603	0.004;0.018	B;B	0.17722	0.015;0.019	T	0.09465	-1.0673	10	0.38643	T	0.18	-29.8549	13.691	0.62547	1.0:0.0:0.0:0.0	.	40;30	B4E1T7;P63151	.;2ABA_HUMAN	V	30;40	ENSP00000370113:I30V;ENSP00000325074:I40V	ENSP00000325074:I40V	I	+	1	0	PPP2R2A	26252328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.912000	0.75753	2.067000	0.61834	0.482000	0.46254	ATA		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		21	34	0	0	0	1	0	21	34					G	26196411	A	G	26196411	3	3	416	1	0	0	0	0	1	0	0	0	12384	449	16	3	139	3	PPP2R2A	8	26196411	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		26196411	120167611	24	36041											
INTS9	55756	broad.mit.edu	37	chr8	28628505	28628505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccccctacctgaagCaagtgcttgttatctttggt	8	13	1	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:28628505C>A	ENST00000521022.1	-	15	1737	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F|INTS9_ENST00000416984.2_Missense_Mutation_p.L531F	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	552					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTACCTGAAGCAAGTGCTTGT	0.532																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1591-1593)ttG>ttT		integrator complex subunit 9							65	58	60					8																	28628505		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28628505C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1656G>T	8.37:g.28628505C>A	ENSP00000429065:p.Leu552Phe					INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000521022.1_Missense_Mutation_p.L552F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F	p.L531F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	14	1952	-		Ovarian(32;0.0439)	552					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1593G>T	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.941|9.941	1.217464|1.217464	0.22373|0.22373	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000517383|ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	.|T;T;T;T	.|0.46063	.|0.89;0.88;0.89;0.88	5.29|5.29	-3.11|-3.11	0.05299|0.05299	.|.	.|0.284133	.|0.35585	.|N	.|0.003117	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.19112|0.19112	0.55|0.55	0.25348|0.25348	N|N	0.98889|0.98889	.|B;B	.|0.15141	.|0.012;0.006	.|B;B	.|0.21708	.|0.027;0.036	T|T	0.18366|0.18366	-1.0339|-1.0339	5|10	.|0.17832	.|T	.|0.49	-3.9716|-3.9716	13.8138|13.8138	0.63278|0.63278	0.1704:0.7072:0.1225:0.0|0.1704:0.7072:0.1225:0.0	.|.	.|531;552	.|B7Z6M5;Q9NV88	.|.;INT9_HUMAN	F|F	26|552;531;396;528;446	.|ENSP00000429065:L552F;ENSP00000398208:L531F;ENSP00000430943:L528F;ENSP00000380520:L446F	.|ENSP00000380520:L446F	C|L	-|-	2|3	0|2	INTS9|INTS9	28684424|28684424	0.535000|0.535000	0.26370|0.26370	0.780000|0.780000	0.31762|0.31762	0.464000|0.464000	0.32679|0.32679	-0.113000|-0.113000	0.10774|0.10774	-0.902000|-0.902000	0.03886|0.03886	-1.028000|-1.028000	0.02416|0.02416	TGC|TTG		0.532	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		3	26	1	0	1	1	1	3	26					A	28628505	C	A	28628505	3	1	416	1	0	0	0	0	1	0	0	0	7785	709	25	4	332	4	INTS9	8	28628505	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	2432094	28628505	117735517	25	36042											
KLHL38	340359	broad.mit.edu	37	chr8	124664296	124664296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggctgtccttccttcCgcccaagaggatgaggaaat	11	12	0	2	rs377275127		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:124664296C>T	ENST00000325995.7	-	1	894	c.871G>A	c.(871-873)Gga>Aga	p.G291R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	291										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCCTTCCTTCCGCCCAAGAGG	0.542																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(871-873)Gga>Aga		kelch-like family member 38		C	ARG/GLY	1,4045		0,1,2022	102	103	103		871	5.7	0.9	8		103	0,8384		0,0,4192	no	missense	KLHL38	NM_001081675.2	125	0,1,6214	TT,TC,CC		0.0,0.0247,0.0080	probably-damaging	291/582	124664296	1,12429	2023	4192	6215	SO:0001583	missense	340359							g.chr8:124664296C>T		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.871G>A	8.37:g.124664296C>T	ENSP00000321475:p.Gly291Arg					CTD-2552K11.2_ENST00000524355.1_RNA	p.G291R	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	894	-			291					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.871G>A	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462986	0.84425	2.47E-4	0.0	ENSG00000175946	ENST00000325995	T	0.74632	-0.86	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91320	0.5081	10	0.87932	D	0	.	19.815	0.96564	0.0:1.0:0.0:0.0	.	291	Q2WGJ6	KLH38_HUMAN	R	291	ENSP00000321475:G291R	ENSP00000321475:G291R	G	-	1	0	KLHL38	124733477	1.000000	0.71417	0.891000	0.34965	0.836000	0.47400	7.770000	0.85390	2.681000	0.91329	0.561000	0.74099	GGA		0.542	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			15	57	0	0	0	1	0	15	57					T	124664296	C	T	124664296	3	4	416	1	0	0	0	0	1	0	0	0	8390	661	23	1	886	1	KLHL38	8	124664296	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	96035791	124664296	21699726	26	36043											
MYO3A	53904	broad.mit.edu	37	chr10	26377303	26377303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagatttctgaatatctcCtggaaaaatcccgagttatc	6	10	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1531-1533)Ctg>Ttg		myosin IIIA							62	64	64					10																	26377303		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377303C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1531C>T	10.37:g.26377303C>T						MYO3A_ENST00000543632.1_Silent_p.L511L	p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1697	+			511			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1531C>T	CCDS7148.1																																																																																				0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		25	36	0	0	0	1	0	25	36					T	26377303	C	T	26377303	2	4	416	1	0	0	0	0	0	0	0	1	10076	680	24	2		2	MYO3A	10	26377303	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		26377303	109157444	27	36044											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087848	57087848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggaaaggggcaggggCcttccgtacaccccctgggg	18	12	0	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:57087848C>T	ENST00000532437.1	-	2	744	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	145	Pro-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)				GGGGCAGGGGCCTTCCGTACA	0.647																																						ENST00000532437.1																			0				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						c.(433-435)Gcc>Acc		tankyrase 1 binding protein 1, 182kDa							47	56	53					11																	57087848		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087848C>T	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.433G>A	11.37:g.57087848C>T	ENSP00000437271:p.Ala145Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T	p.A145T			Q9C0C2	TB182_HUMAN			2	744	-		all_epithelial(135;0.21)	145			Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.433G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150054	0.78001	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.37411	1.2;1.2	4.37	4.37	0.52481	.	0.000000	0.33515	N	0.004833	T	0.45094	0.1325	N	0.24115	0.695	0.29812	N	0.83159	D	0.76494	0.999	D	0.72075	0.976	T	0.43893	-0.9363	10	0.56958	D	0.05	-15.5309	14.8571	0.70347	0.0:1.0:0.0:0.0	.	145	Q9C0C2	TB182_HUMAN	T	145	ENSP00000350990:A145T;ENSP00000437271:A145T	ENSP00000350990:A145T	A	-	1	0	TNKS1BP1	56844424	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	0.620000	0.24403	2.225000	0.72522	0.462000	0.41574	GCC		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		31	47	0	0	0	1	0	31	47					T	57087848	C	T	57087848	3	4	416	1	0	0	0	0	1	0	0	0	16317	739	26	2	4792	2	TNKS1BP1	11	57087848	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		57087848	77918668	28	36045											
SSH3	54961	broad.mit.edu	37	chr11	67077742	67077742	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacctccgaggggtcatgAggtccatcagtcttctggag	12	10	4	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67077742A>G	ENST00000308127.4	+	13	1793	c.1615A>G	c.(1615-1617)Agg>Ggg	p.R539G	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	539					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)			AGGGGTCATGAGGTCCATCAG	0.617																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1615-1617)Agg>Ggg		slingshot protein phosphatase 3							67	73	71					11																	67077742		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077742A>G	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.1615A>G	11.37:g.67077742A>G	ENSP00000312081:p.Arg539Gly					SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	p.R539G	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1793	+			539					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1615A>G	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505329	0.64410	.	.	ENSG00000172830	ENST00000308127	T	0.05258	3.47	4.65	2.44	0.29823	.	0.000000	0.36665	N	0.002463	T	0.06005	0.0156	N	0.24115	0.695	0.80722	D	1	P;P	0.47409	0.879;0.895	P;B	0.45195	0.473;0.281	T	0.37150	-0.9718	10	0.72032	D	0.01	-21.3967	9.5554	0.39334	0.4583:0.5417:0.0:0.0	.	393;539	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	G	539	ENSP00000312081:R539G	ENSP00000312081:R539G	R	+	1	2	SSH3	66834318	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.170000	0.16663	0.349000	0.23975	0.454000	0.30748	AGG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	77	0	0	0	1	0	4	77					G	67077742	A	G	67077742	3	3	416	1	0	0	0	0	1	0	0	0	15185	295	11	3	1665	3	SSH3	11	67077742	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	9989894	67077742	67928774	29	36046											
ALDH3B2	222	broad.mit.edu	37	chr11	67433014	67433014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcagaaccaggccacgcGgttggccacggtctgggggt	17	11	1	1	rs528990160		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67433014G>A	ENST00000349015.3	-	7	886	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	150					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.R150C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAGGCCACGCGGTTGGCCACG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0					ENST00000349015.3																			1	Substitution - Missense(1)	p.R150C(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(448-450)Cgc>Tgc		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						111	120	117					11																	67433014		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433014G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"Aldehyde dehydrogenases"	411	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 8", "acetaldehyde dehydrogenase 8"	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.448C>T	11.37:g.67433014G>A	ENSP00000255084:p.Arg150Cys					ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C	p.R150C	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			7	886	-			150					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.448C>T	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070216	0.93950	.	.	ENSG00000132746	ENST00000530069;ENST00000349015	T;T	0.76709	-1.04;-1.04	4.06	4.06	0.47325	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	U	0.000000	D	0.90469	0.7015	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93121	0.6525	10	0.87932	D	0	.	16.3503	0.83202	0.0:0.0:1.0:0.0	.	35;150	B4DSX1;P48448	.;AL3B2_HUMAN	C	150	ENSP00000431595:R150C;ENSP00000255084:R150C	ENSP00000255084:R150C	R	-	1	0	ALDH3B2	67189590	1.000000	0.71417	0.965000	0.40720	0.680000	0.39746	6.074000	0.71253	2.245000	0.73994	0.462000	0.41574	CGC		0.667	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		51	131	0	0	0	1	0	51	131					A	67433014	G	A	67433014	3	1	416	1	0	0	0	0	1	0	0	0	500	1116	39	1	725	1	ALDH3B2	11	67433014	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	355272	67433014	67573502	30	36047											
OAS3	4940	broad.mit.edu	37	chr12	113403651	113403651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgagcagggcaacaagCgggccgagatcatctccgag	13	12	3	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr12:113403651C>T	ENST00000228928.7	+	12	2685	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	836	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						GGGCAACAAGCGGGCCGAGAT	0.592																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2506-2508)Cgg>Tgg		2'-5'-oligoadenylate synthetase 3, 100kDa							32	36	35					12																	113403651		2020	4173	6193	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113403651C>T	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.2506C>T	12.37:g.113403651C>T	ENSP00000228928:p.Arg836Trp					RP1-71H24.1_ENST00000552784.1_RNA	p.R836W	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			12	2685	+			836			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2506C>T	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066560	0.55539	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.27256	1.68	5.16	0.922	0.19408	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	0.000000	0.31404	U	0.007719	T	0.50803	0.1637	M	0.90814	3.15	0.27156	N	0.961284	D	0.89917	1.0	D	0.87578	0.998	T	0.41520	-0.9504	10	0.87932	D	0	.	6.4786	0.22049	0.4571:0.4567:0.0:0.0861	.	836	Q9Y6K5	OAS3_HUMAN	W	836;835	ENSP00000228928:R836W	ENSP00000228928:R836W	R	+	1	2	OAS3	111888034	0.003000	0.15002	0.245000	0.24217	0.664000	0.39144	0.490000	0.22403	0.158000	0.19367	0.655000	0.94253	CGG		0.592	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			8	11	0	0	0	1	0	8	11					T	113403651	C	T	113403651	3	4	416	1	0	0	0	0	1	0	0	0	10801	759	27	1	2552	1	OAS3	12	113403651	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		113403651	20448244	31	36048											
OXGR1	27199	broad.mit.edu	37	chr13	97639064	97639064	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcttactttgcatctcActgttgagcagacagcctgc	8	14	1	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr13:97639064A>C	ENST00000298440.1	-	4	1193	c.950T>G	c.(949-951)gTg>gGg	p.V317G	OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	317					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)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTTGCATCTCACTGTTGAGCA	0.398																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(949-951)gTg>gGg		oxoglutarate (alpha-ketoglutarate) receptor 1							122	120	121					13																	97639064		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639064A>C	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.950T>G	13.37:g.97639064A>C	ENSP00000298440:p.Val317Gly					OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G	p.V317G	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1193	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		317					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.950T>G	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	A	3.638	-0.074118	0.07184	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38401	1.14;1.14	5.87	3.44	0.39384	.	0.620948	0.15478	N	0.260257	T	0.17959	0.0431	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.62326	D	0.03	.	5.9337	0.19152	0.6832:0.1368:0.18:0.0	.	317	Q96P68	OXGR1_HUMAN	G	317	ENSP00000298440:V317G;ENSP00000438800:V317G	ENSP00000298440:V317G	V	-	2	0	OXGR1	96437065	0.000000	0.05858	0.666000	0.29783	0.010000	0.07245	0.168000	0.16622	1.136000	0.42199	-0.313000	0.08912	GTG		0.398	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		33	62	0	0	0	1	0	33	62					C	97639064	A	C	97639064	3	2	416	1	0	0	0	0	1	0	0	0	11332	159	6	5	67	5	OXGR1	13	97639064	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		97639064	17530814	32	36049											
PAK6	56924	broad.mit.edu	37	chr15	40564858	40564858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagaagcactcgggccGccaggtggccgtcaagatga	16	12	1	3			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr15:40564858G>A	ENST00000542403.2	+	4	1403	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|PAK6_ENST00000455577.2_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CACTCGGGCCGCCAGGTGGCC	0.662																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1291-1293)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 6							21	23	22					15																	40564858		2203	4299	6502	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564858G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1292G>A	15.37:g.40564858G>A	ENSP00000439597:p.Arg431His					PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H|PAK6_ENST00000542403.2_Missense_Mutation_p.R431H|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR	p.R431H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	2204	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	431			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1292G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843073	0.71488	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.32	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050467	0.85682	D	0.000000	T	0.72020	0.3409	L	0.41415	1.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.75309	-0.3363	10	0.87932	D	0	.	15.2144	0.73254	0.0:0.0:0.8581:0.1419	.	431;431	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	431	ENSP00000406873:R431H;ENSP00000401153:R431H;ENSP00000409465:R431H;ENSP00000260404:R431H;ENSP00000439597:R431H	ENSP00000260404:R431H	R	+	2	0	PAK6	38352150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.720000	0.68470	1.212000	0.43366	0.655000	0.94253	CGC		0.662	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			11	11	0	0	0	1	0	11	11					A	40564858	G	A	40564858	3	1	416	1	0	0	0	0	1	0	0	0	11404	1087	38	1	1302	1	PAK6	15	40564858	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		40564858	61966534	33	36050											
TMC5	79838	broad.mit.edu	37	chr16	19505646	19505646	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatatggagaagaaAgcaaaccccagctcacttgt	10	10	1	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:19505646A>C	ENST00000396229.2	+	20	3638	c.2889A>C	c.(2887-2889)aaA>aaC	p.K963N	TMC5_ENST00000564959.1_Missense_Mutation_p.K646N|TMC5_ENST00000219821.5_Missense_Mutation_p.K717N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	963					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGAAGAAAGCAAACCCCA	0.458																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2887-2889)aaA>aaC		transmembrane channel-like 5							117	123	121					16																	19505646		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19505646A>C	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2889A>C	16.37:g.19505646A>C	ENSP00000379531:p.Lys963Asn					TMC5_ENST00000564959.1_Missense_Mutation_p.K646N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N|TMC5_ENST00000219821.5_Missense_Mutation_p.K717N	p.K963N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			20	3638	+			963					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2889A>C	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.264954	0.23136	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71341	-0.35;-0.19;-0.45;-0.45;-0.56	5.57	3.34	0.38264	.	1.511710	0.03720	N	0.251722	T	0.63546	0.2520	L	0.44542	1.39	0.09310	N	1	P;B;P;P;B	0.39665	0.496;0.029;0.682;0.554;0.077	B;B;B;B;B	0.38755	0.276;0.019;0.281;0.146;0.047	T	0.50566	-0.8813	10	0.22109	T	0.4	-6.8012	6.4931	0.22127	0.8136:0.0:0.1864:0.0	.	911;646;717;963;905	F5GYU8;E7EU57;Q6UXY8-3;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	N	911;905;963;963;717;646	ENSP00000441227:K911N;ENSP00000370822:K905N;ENSP00000379531:K963N;ENSP00000446274:K963N;ENSP00000219821:K717N	ENSP00000219821:K717N	K	+	3	2	TMC5	19413147	0.863000	0.29885	0.940000	0.37924	0.046000	0.14306	0.939000	0.28978	1.059000	0.40554	0.533000	0.62120	AAA		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		8	100	0	0	0	1	0	8	100					C	19505646	A	C	19505646	3	2	416	1	0	0	0	0	1	0	0	0	15985	69	3	5	3273	5	TMC5	16	19505646	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		19505646	70849107	34	36051											
DNAH3	55567	broad.mit.edu	37	chr16	21145636	21145636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcaccgtgtgcagatgCtcctcgttccacttcttggc	11	13	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:21145636C>T	ENST00000261383.3	-	7	1025	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	DNAH3_ENST00000415178.1_Silent_p.E342E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	342	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)		TGTGCAGATGCTCCTCGTTCC	0.517																																						ENST00000261383.3																			0				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						c.(1024-1026)gaG>gaA		dynein, axonemal, heavy chain 3							113	106	108					16																	21145636		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145636C>T	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.1026G>A	16.37:g.21145636C>T						DNAH3_ENST00000415178.1_Silent_p.E342E	p.E342E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	1025	-			342			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1026G>A	CCDS10594.1																																																																																				0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		49	75	0	0	0	1	0	49	75					T	21145636	C	T	21145636	2	4	416	1	0	0	0	0	0	0	0	1	4603	796	28	2		2	DNAH3	16	21145636	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	1639990	21145636	69209117	35	36052											
RABEP2	79874	broad.mit.edu	37	chr16	28925751	28925751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggagaaggaggagaTggaggcgctgtcatcgcagt	18	7	1	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:28925751T>C	ENST00000358201.4	-	5	1288	c.700A>G	c.(700-702)Atc>Gtc	p.I234V	RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V|RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	234					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						AAGGAGGAGATGGAGGCGCTG	0.682																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(700-702)Atc>Gtc		rabaptin, RAB GTPase binding effector protein 2							23	28	27					16																	28925751		2040	4205	6245	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925751T>C	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.700A>G	16.37:g.28925751T>C	ENSP00000350934:p.Ile234Val					RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V	p.I234V	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			5	1288	-			234						Missense_Mutation	SNP	ENST00000358201.4	37	c.700A>G	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441123	0.43326	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.53857	0.66;0.6;0.71	5.27	4.11	0.48088	.	0.075878	0.53938	D	0.000045	T	0.38799	0.1054	N	0.24115	0.695	0.28153	N	0.929317	P;P;P;P	0.38597	0.506;0.639;0.506;0.506	B;B;B;B	0.38712	0.049;0.28;0.12;0.083	T	0.41520	-0.9504	10	0.59425	D	0.04	-17.5727	10.9887	0.47537	0.0:0.0:0.1562:0.8438	.	163;234;234;234	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	V	234;234;163	ENSP00000350934:I234V;ENSP00000350186:I234V;ENSP00000442798:I163V	ENSP00000350186:I234V	I	-	1	0	RABEP2	28833252	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.302000	0.33459	1.989000	0.58080	0.379000	0.24179	ATC		0.682	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		10	15	0	0	0	1	0	10	15					C	28925751	T	C	28925751	3	2	416	1	0	0	0	0	1	0	0	0	12962	1464	51	3	1045	3	RABEP2	16	28925751	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	7780115	28925751	61429002	36	36053											
KIAA0895L	653319	broad.mit.edu	37	chr16	67211953	67211953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggaaatcgatggtctggCgatgtcgcagaatgcgcacg	15	9	1	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:67211953C>T	ENST00000290881.7	-	7	2137	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T			Q68EN5	K895L_HUMAN	KIAA0895-like	404										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GATGGTCTGGCGATGTCGCAG	0.632																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1210-1212)cGc>cAc		KIAA0895-like							52	51	51					16																	67211953		2018	4183	6201	SO:0001583	missense	653319							g.chr16:67211953C>T	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.1211G>A	16.37:g.67211953C>T	ENSP00000290881:p.Arg404His					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R249H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T	p.R404H			Q68EN5	K895L_HUMAN			7	2137	-			404					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.1211G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673458	0.96754	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80656	-0.1285	9	0.42905	T	0.14	-18.1877	15.6254	0.76851	0.0:1.0:0.0:0.0	.	404;249	Q68EN5;Q68EN5-3	K895L_HUMAN;.	H	404	.	ENSP00000290881:R404H	R	-	2	0	KIAA0895L	65769454	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.320000	0.79064	2.546000	0.85860	0.650000	0.86243	CGC		0.632	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	15	0	0	0	1	0	8	15					T	67211953	C	T	67211953	3	4	416	1	0	0	0	0	1	0	0	0	8198	768	27	1	212	1	KIAA0895L	16	67211953	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	38286202	67211953	23142800	37	36054											
CDH13	1012	broad.mit.edu	37	chr16	82892059	82892059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagctgaattcattgaGgaccagtcaattctaaactg	8	10	3	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:82892059G>A	ENST00000566620.1	+	2	428	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000446376.2_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E|CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000565636.1_Silent_p.E46E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	46					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATTCATTGAGGACCAGTCAA	0.393																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(136-138)gaG>gaA		cadherin 13							83	77	79					16																	82892059		1881	4113	5994	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:82892059G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.138G>A	16.37:g.82892059G>A						CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E|CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000565636.1_Silent_p.E46E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000446376.2_Silent_p.E46E	p.E46E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	2	428	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	46					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.138G>A	CCDS58486.1																																																																																				0.393	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		3	16	0	0	0	1	0	3	16					A	82892059	G	A	82892059	2	1	416	1	0	0	0	0	0	0	0	1	3099	991	35	2		2	CDH13	16	82892059	Silent	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	15680106	82892059	7462694	38	36055											
WDR81	124997	broad.mit.edu	37	chr17	1636832	1636832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatccaggtgacatcatcCggaaaatcatccccaaccac	5	16	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:1636832C>T	ENST00000409644.1	+	7	4501	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1501					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)		TGACATCATCCGGAAAATCAT	0.612																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4501-4503)Cgg>Tgg		WD repeat domain 81							71	80	77					17																	1636832		2167	4242	6409	SO:0001583	missense	124997							g.chr17:1636832C>T	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.4501C>T	17.37:g.1636832C>T	ENSP00000386609:p.Arg1501Trp					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W	p.R1501W	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4501	+			274					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4501C>T	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231458	0.39399	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.56	2.47	0.30058	.	0.475439	0.23439	N	0.048175	T	0.70518	0.3233	L	0.43152	1.355	0.44123	D	0.996906	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.62969	-0.6741	10	0.59425	D	0.04	.	6.8751	0.24143	0.0:0.5838:0.2697:0.1464	.	132;298;628;450	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	W	298;450;140;274;86;1501;252;132	ENSP00000391074:R298W;ENSP00000312074:R450W;ENSP00000401560:R140W;ENSP00000407845:R274W;ENSP00000395198:R86W;ENSP00000386609:R1501W;ENSP00000442726:R132W	ENSP00000312074:R450W	R	+	1	2	WDR81	1583582	0.999000	0.42202	0.930000	0.37139	0.992000	0.81027	1.112000	0.31172	0.305000	0.22832	-0.137000	0.14449	CGG		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		52	94	0	0	0	1	0	52	94					T	1636832	C	T	1636832	3	4	416	1	0	0	0	0	1	0	0	0	17327	643	23	1	4589	1	WDR81	17	1636832	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		1636832	79558378	39	36056											
CHRNB1	1140	broad.mit.edu	37	chr17	7350230	7350230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccgcatcacggcggaatccGtgtggctccctgacgtggtg	14	13	1	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:7350230G>C	ENST00000306071.2	+	4	389	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L	CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L|RP11-104H15.7_ENST00000575310.1_RNA|CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|RP11-104H15.10_ENST00000575331.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	108					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GGCGGAATCCGTGTGGCTCCC	0.677																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(322-324)Gtg>Ctg		cholinergic receptor, nicotinic, beta 1 (muscle)							32	29	30					17																	7350230		2203	4300	6503	SO:0001583	missense	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7350230G>C	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.322G>C	17.37:g.7350230G>C	ENSP00000304290:p.Val108Leu					CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L	p.V108L	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			4	389	+		Prostate(122;0.157)	108					B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.322G>C	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203296	0.58234	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.78246	-1.16;-1.16	5.05	5.05	0.67936	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	T	0.75302	0.3831	L	0.41079	1.255	0.80722	D	1	P	0.47350	0.894	P	0.51055	0.657	T	0.74444	-0.3663	10	0.44086	T	0.13	.	9.326	0.37993	0.0952:0.0:0.9048:0.0	.	108	P11230	ACHB_HUMAN	L	108;36	ENSP00000304290:V108L;ENSP00000439209:V36L	ENSP00000304290:V108L	V	+	1	0	CHRNB1	7290954	1.000000	0.71417	0.938000	0.37757	0.754000	0.42855	3.295000	0.51794	2.632000	0.89209	0.491000	0.48974	GTG		0.677	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			4	14	0	0	0	1	0	4	14					C	7350230	G	C	7350230	3	2	416	1	0	0	0	0	1	0	0	0	3390	1145	40	4	336	4	CHRNB1	17	7350230	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	5713398	7350230	73844980	40	36057											
TMUB2	79089	broad.mit.edu	37	chr17	42268191	42268191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccctggtgggagtcaccGtcttcttcagcttcctagta	9	13	5	0	rs139203660		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:42268191G>A	ENST00000587989.1	+	4	1078	c.925G>A	c.(925-927)Gtc>Atc	p.V309I	TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000319511.6_Missense_Mutation_p.V289I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	309						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)		GGGAGTCACCGTCTTCTTCAG	0.498																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(865-867)Gtc>Atc		transmembrane and ubiquitin-like domain containing 2		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	132	126	128		925,865,865	4.2	0.8	17	dbSNP_134	128	0,8600		0,0,4300	no	missense,missense,missense	TMUB2	NM_001076674.1,NM_024107.2,NM_177441.2	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	309/322,289/302,289/302	42268191	2,13004	2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268191G>A		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.925G>A	17.37:g.42268191G>A	ENSP00000466971:p.Val309Ile					TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.V309I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I	p.V289I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1515	+		Breast(137;0.00765)|Prostate(33;0.0181)	309					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.865G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971701	0.74246	4.54E-4	0.0	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.49720	0.87;0.78;0.77;0.78	5.24	4.24	0.50183	.	0.125034	0.52532	D	0.000062	T	0.57666	0.2069	L	0.39898	1.24	0.54753	D	0.999983	D;D;D	0.89917	0.962;0.978;1.0	B;P;D	0.76575	0.216;0.525;0.988	T	0.54397	-0.8300	10	0.31617	T	0.26	0.5176	13.9539	0.64135	0.0:0.0:0.8469:0.1531	.	252;289;309	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	I	252;289;309;289	ENSP00000413127:V252I;ENSP00000350672:V289I;ENSP00000444565:V309I;ENSP00000313214:V289I	ENSP00000313214:V289I	V	+	1	0	TMUB2	39623717	1.000000	0.71417	0.824000	0.32777	0.922000	0.55478	4.403000	0.59729	1.389000	0.46526	0.555000	0.69702	GTC		0.498	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		11	89	0	0	0	1	0	11	89					A	42268191	G	A	42268191	3	1	416	1	0	0	0	0	1	0	0	0	16262	1145	40	1	935	1	TMUB2	17	42268191	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	34917961	42268191	38927019	41	36058											
C3	718	broad.mit.edu	37	chr19	6697472	6697472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacatatggaacggacaaCgaggacttgggggggatggt	17	5	0	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:6697472C>T	ENST00000245907.6	-	21	2771	c.2679G>A	c.(2677-2679)tcG>tcA	p.S893S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	893					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)	GAACGGACAACGAGGACTTGG	0.572																																						ENST00000245907.6																			0				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						c.(2677-2679)tcG>tcA		complement component 3							126	100	109					19																	6697472		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697472C>T	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.2679G>A	19.37:g.6697472C>T							p.S893S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2771	-			893					A7E236	Silent	SNP	ENST00000245907.6	37	c.2679G>A	CCDS32883.1																																																																																				0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		6	52	0	0	0	1	0	6	52					T	6697472	C	T	6697472	2	4	416	1	0	0	0	0	0	0	0	1	2204	523	19	1		1	C3	19	6697472	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		6697472	52431511	42	36059											
ZNF285	26974	broad.mit.edu	37	chr19	44890648	44890648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacatttataatgtttctcTctgctcatgtagtctttgat	5	8	4	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:44890648T>C	ENST00000330997.4	-	4	1823	c.1759A>G	c.(1759-1761)Aga>Gga	p.R587G	ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	587					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(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATGTTTCTCTCTGCTCATGT	0.433																																						ENST00000330997.4																			0				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						c.(1759-1761)Aga>Gga		zinc finger protein 285							116	98	104					19																	44890648		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44890648T>C	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.1759A>G	19.37:g.44890648T>C	ENSP00000333595:p.Arg587Gly					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G	p.R587G	NM_152354.3	NP_689567.3					4	1823	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1759A>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.138	0.024026	0.08006	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06768	3.26	3.28	0.0327	0.14176	.	.	.	.	.	T	0.05593	0.0147	N	0.17723	0.515	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37056	-0.9722	9	0.72032	D	0.01	.	7.1905	0.25822	0.0:0.4426:0.0:0.5574	.	611;587	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	610;587	ENSP00000333595:R587G	ENSP00000333595:R587G	R	-	1	2	ZNF285	49582488	0.940000	0.31905	0.001000	0.08648	0.029000	0.11900	1.299000	0.33424	0.079000	0.16929	0.373000	0.22412	AGA		0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		3	32	0	0	0	1	0	3	32					C	44890648	T	C	44890648	3	2	416	1	0	0	0	0	1	0	0	0	17819	1559	54	3	17	3	ZNF285	19	44890648	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	38193176	44890648	14238335	43	36060											
NLRP9	338321	broad.mit.edu	37	chr19	56223200	56223200	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagtccgggtggctcaAtgcctcacacagcaccacca	10	16	2	0	rs149437621	byFrequency	TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:56223200A>G	ENST00000332836.2	-	8	2836	c.2809T>C	c.(2809-2811)Ttg>Ctg	p.L937L	CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	937						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)		GGGTGGCTCAATGCCTCACAC	0.562																																						ENST00000332836.2																			0				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						c.(2809-2811)Ttg>Ctg		NLR family, pyrin domain containing 9		A		12,4388	19.1+/-41.9	0,12,2188	115	84	94		2809	-6.6	0	19	dbSNP_134	94	0,8592		0,0,4296	no	coding-synonymous	NLRP9	NM_176820.2		0,12,6484	GG,GA,AA		0.0,0.2727,0.0924		937/992	56223200	12,12980	2200	4296	6496	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223200A>G	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.2809T>C	19.37:g.56223200A>G							p.L937L	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	8	2836	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	937					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2809T>C	CCDS12934.1																																																																																				0.562	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		3	25	0	0	0	1	0	3	25					G	56223200	A	G	56223200	2	3	416	1	0	0	0	0	0	0	0	1	10484	98	4	3		3	NLRP9	19	56223200	Silent	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	11332552	56223200	2905783	44	36061											
SFRS6	6431	broad.mit.edu	37	chr20	42088683	42088683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtctttcaggattttatgcGacaagcaggtgaagtaacct	10	7	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr20:42088683G>T	ENST00000244020.3	+	4	498	c.392G>T	c.(391-393)cGa>cTa	p.R131L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	131	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GATTTTATGCGACAAGCAGGT	0.393																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(391-393)cGa>cTa		serine/arginine-rich splicing factor 6							102	101	102					20																	42088683		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088683G>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.392G>T	20.37:g.42088683G>T	ENSP00000244020:p.Arg131Leu						p.R131L	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	498	+			131			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.392G>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356446	0.82243	.	.	ENSG00000124193	ENST00000244020	T	0.17370	2.28	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.045636	0.85682	D	0.000000	T	0.60011	0.2236	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.72714	-0.4210	10	0.87932	D	0	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	131;131	Q13247;A8K588	SRSF6_HUMAN;.	L	131	ENSP00000244020:R131L	ENSP00000244020:R131L	R	+	2	0	SRSF6	41522097	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.756000	0.98918	2.894000	0.99253	0.591000	0.81541	CGA		0.393	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		4	60	1	0	0.00909568	1	0.0092581	4	60					T	42088683	G	T	42088683	3	4	416	1	0	0	0	0	1	0	0	0	14181	1058	37	4	406	4	SFRS6	20	42088683	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		42088683	20936837	45	36062											
ZBTB33	10009	broad.mit.edu	37	chrX	119389238	119389239	+	Frame_Shift_Del	DEL	TG	TG	-													gattcaatttttaaacaaaaTgtaacagatggcagtactga							TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chrX:119389238_119389239delTG	ENST00000326624.2	+	2	2196_2197	c.1968_1969delTG	c.(1966-1971)aatgtafs	p.V657fs	ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.V657fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	657	Interaction with CTNND1. {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						TTAAACAAAATGTAACAGATGG	0.361																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1966-1971)aatafs		zinc finger and BTB domain containing 33																																				SO:0001589	frameshift_variant	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119389238_119389239delTG	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.1968_1969delTG	X.37:g.119389238_119389239delTG	ENSP00000314153:p.Val657fs					ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.NV656fs	p.NV656fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	2196_2197	+			656			Interaction with CTNND1 (By similarity).		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Frame_Shift_Del	DEL	ENST00000326624.2	37	c.1968_1969delTG	CCDS14596.1																																																																																				0.361	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		7	50						7	50	---	---	---	---	-	119389239	TG	-	119389238	7	5	416	1	0	1	0	1	0	0	0	0	17533	1461	51	0	1970	0	ZBTB33	23	119389238	Frame_Shift_Del	DEL	TG	TCGA-S9-A6TX-01A-21D-A32B-08		119389238	35881322	46	36063											
PIAS3	10401	broad.mit.edu	37	chr1	145584147	145584147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctccagtacagcccagTccaggggggagatccatcag	13	13	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145584147T>C	ENST00000393045.2	+	11	1388	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	433					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAGCCCAGTCCAGGGGGGA	0.498																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1297-1299)gTc>gCc		protein inhibitor of activated STAT, 3							125	137	133					1																	145584147		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584147T>C	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1298T>C	1.37:g.145584147T>C	ENSP00000376765:p.Val433Ala					PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	p.V433A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1388	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		433					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1298T>C	CCDS920.2	.	.	.	.	.	.	.	.	.	.	T	6.512	0.462712	0.12402	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.33438	1.42;1.41	5.65	4.51	0.55191	.	0.343474	0.24152	N	0.041079	T	0.04952	0.0133	N	0.11560	0.145	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.24512	-1.0158	10	0.05620	T	0.96	-13.2763	9.1073	0.36705	0.0:0.0:0.1992:0.8008	.	433	Q9Y6X2	PIAS3_HUMAN	A	433;398	ENSP00000376765:V433A;ENSP00000358304:V398A	ENSP00000358304:V398A	V	+	2	0	PIAS3	144295504	0.001000	0.12720	1.000000	0.80357	0.967000	0.64934	0.050000	0.14120	2.371000	0.80710	0.533000	0.62120	GTC		0.498	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		5	218	0	0	0	1	0	5	218					C	145584147	T	C	145584147	3	2	417	1	0	0	0	0	1	0	0	0	11877	1667	58	3	1340	3	PIAS3	1	145584147	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		145584147	103666474	1	36064											
FAM129A	116496	broad.mit.edu	37	chr1	184853821	184853821	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcactaaacctcttctggtCagcagcctcgtggaagcaga	11	12	3	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:184853821C>G	ENST00000367511.3	-	5	740	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	183					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCTTCTGGTCAGCAGCCTCG	0.597																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(547-549)Gac>Cac		family with sequence similarity 129, member A							92	83	86					1																	184853821		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184853821C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.547G>C	1.37:g.184853821C>G	ENSP00000356481:p.Asp183His						p.D183H	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			5	740	-			183					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.547G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044592	0.55110	.	.	ENSG00000135842	ENST00000367511	T	0.20463	2.07	5.63	5.63	0.86233	.	0.682708	0.15734	N	0.247286	T	0.28797	0.0714	N	0.22421	0.69	0.09310	N	1	D	0.53151	0.958	P	0.56474	0.799	T	0.11941	-1.0567	10	0.66056	D	0.02	-2.613	15.1818	0.72965	0.0:1.0:0.0:0.0	.	183	Q9BZQ8	NIBAN_HUMAN	H	183	ENSP00000356481:D183H	ENSP00000356481:D183H	D	-	1	0	FAM129A	183120444	0.005000	0.15991	0.034000	0.17996	0.543000	0.35085	1.964000	0.40462	2.653000	0.90120	0.650000	0.86243	GAC		0.597	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			17	30	0	0	0	1	0	17	30					G	184853821	C	G	184853821	3	3	417	1	0	0	0	0	1	0	0	0	5436	826	29	4	2279	4	FAM129A	1	184853821	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	39269674	184853821	64396800	2	36065											
PROM2	150696	broad.mit.edu	37	chr2	95940490	95940490	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcccggtggctggcccctCgagttcgtgcgccaggactc	16	15	0	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:95940490C>T	ENST00000317620.9	+	1	290	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	53					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						GCTGGCCCCTCGAGTTCGTGC	0.657																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(157-159)Cga>Tga		prominin 2							69	80	76					2																	95940490		2203	4300	6503	SO:0001587	stop_gained	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95940490C>T	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.157C>T	2.37:g.95940490C>T	ENSP00000318270:p.Arg53*					PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*	p.R53*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			1	290	+			53					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Nonsense_Mutation	SNP	ENST00000317620.9	37	c.157C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038656	0.93630	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	.	.	.	5.01	5.01	0.66863	.	0.459582	0.19002	N	0.125326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.1967	13.8035	0.63216	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000318270:R53X	R	+	1	2	PROM2	95304217	0.118000	0.22208	0.926000	0.36857	0.572000	0.35998	2.798000	0.47884	2.339000	0.79563	0.491000	0.48974	CGA		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		6	150	0	0	0	1	0	6	150					T	95940490	C	T	95940490	4	4	417	1	0	0	0	0	0	1	0	0	12556	876	31	1	159	1	PROM2	2	95940490	Nonsense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		95940490	147258883	3	36066											
DNER	92737	broad.mit.edu	37	chr2	230453157	230453157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggataccaggcggccaccCgcagagctgttagaactggc	13	12	0	2	rs200771367		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:230453157C>T	ENST00000341772.4	-	3	767	c.633G>A	c.(631-633)gcG>gcA	p.A211A	DNER_ENST00000482831.1_5'Flank	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	211					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCGGCCACCCGCAGAGCTGT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		17335	0.001		0.0	False		,,,				2504	0.0					ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(631-633)gcG>gcA		delta/notch-like EGF repeat containing							78	80	80					2																	230453157		2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230453157C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.633G>A	2.37:g.230453157C>T							p.A211A	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	3	767	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	211					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.633G>A	CCDS33390.1																																																																																				0.428	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		16	28	0	0	0	1	0	16	28					T	230453157	C	T	230453157	2	4	417	1	0	0	0	0	0	0	0	1	4667	639	23	1		1	DNER	2	230453157	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	134512667	230453157	12746216	4	36067											
ATG4B	23192	broad.mit.edu	37	chr2	242594751	242594755	+	Frame_Shift_Del	DEL	GTCCT	GTCCT	-													ggcccaacactgtcgcccagGtcctgaagtatgtactgcgc							TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:242594751_242594755delGTCCT	ENST00000404914.3	+	6	554_558	c.451_455delGTCCT	c.(451-456)gtcctgfs	p.VL151fs	ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000405546.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	151					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCGCCCAGGTCCTGAAGTATGTA	0.546																																					Melanoma(78;458 1323 6342 12171 39523)	ENST00000405546.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(451-456)gfs		autophagy related 4B, cysteine peptidase																																				SO:0001589	frameshift_variant	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242594751_242594755delGTCCT	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.451_455delGTCCT	2.37:g.242594751_242594755delGTCCT	ENSP00000384259:p.Val151fs					ATG4B_ENST00000404914.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs	p.VL151fs			Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	6	953_957	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	151					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Frame_Shift_Del	DEL	ENST00000404914.3	37	c.451_455delGTCCT	CCDS46564.1																																																																																				0.546	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		4	9						4	9	---	---	---	---	-	242594755	GTCCT	-	242594751	7	5	417	1	0	1	0	1	0	0	0	0	1097	1261	44	0	473	0	ATG4B	2	242594751	Frame_Shift_Del	DEL	GTCCT	TCGA-S9-A6TY-01A-12D-A32B-08	12141594	242594751	604622	5	36068											
C3orf30	152405	broad.mit.edu	37	chr3	118865135	118865135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaagggccaggaagaagaCgaccagaagaaccaggccga	13	10	0	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:118865135C>T	ENST00000295622.1	+	1	139	c.99C>T	c.(97-99)gaC>gaT	p.D33D	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	33										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAGAAGACGACCAGAAGA	0.552																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(97-99)gaC>gaT		chromosome 3 open reading frame 30							84	58	67					3																	118865135		2203	4300	6503	SO:0001819	synonymous_variant	152405							g.chr3:118865135C>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.99C>T	3.37:g.118865135C>T							p.D33D	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	139	+			33					A1L4B7	Silent	SNP	ENST00000295622.1	37	c.99C>T	CCDS2984.1																																																																																				0.552	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		8	12	0	0	0	1	0	8	12					T	118865135	C	T	118865135	2	4	417	1	0	0	0	0	0	0	0	1	2220	535	19	1		1	C3orf30	3	118865135	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		118865135	79157295	6	36069											
NLGN1	22871	broad.mit.edu	37	chr3	173997179	173997179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggctttgtttacggaccAtcagtgggtggcaccagctg	13	10	1	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:173997179A>G	ENST00000457714.1	+	6	1817	c.1388A>G	c.(1387-1389)cAt>cGt	p.H463R	NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R|NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	480					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)			TTTACGGACCATCAGTGGGTG	0.448																																						ENST00000457714.1																			0				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						c.(1387-1389)cAt>cGt		neuroligin 1							91	88	89					3																	173997179		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997179A>G	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.1388A>G	3.37:g.173997179A>G	ENSP00000392500:p.His463Arg					NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R|NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R	p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1817	+	Ovarian(172;0.0025)		480					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1388A>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929225	0.52759	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.04	6.04	0.98038	.	0.101398	0.64402	D	0.000002	T	0.50786	0.1636	N	0.13098	0.295	0.80722	D	1	P;D	0.55385	0.883;0.971	P;P	0.54270	0.747;0.57	T	0.54970	-0.8213	10	0.48119	T	0.1	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	503;463	D2X2H5;Q8N2Q7-2	.;.	R	463;463;463;503	ENSP00000392500:H463R;ENSP00000354541:H463R;ENSP00000441108:H463R;ENSP00000385750:H503R	ENSP00000354541:H463R	H	+	2	0	NLGN1	175479873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	CAT		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		16	71	0	0	0	1	0	16	71					G	173997179	A	G	173997179	3	3	417	1	0	0	0	0	1	0	0	0	10461	217	8	3	1402	3	NLGN1	3	173997179	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	55132044	173997179	24025251	7	36070											
SPRY4	81848	broad.mit.edu	37	chr5	141693866	141693866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagcggcaaccagggcGgcgcagacggtcgtagccac	15	14	0	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr5:141693866G>A	ENST00000434127.2	-	2	1051	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SPRY4_ENST00000344120.4_Missense_Mutation_p.R293C|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	270	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)			CAACCAGGGCGGCGCAGACGG	0.642									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(877-879)Cgc>Tgc		sprouty homolog 4 (Drosophila)							46	44	45					5																	141693866		2203	4300	6503	SO:0001583	missense	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141693866G>A	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.808C>T	5.37:g.141693866G>A	ENSP00000399468:p.Arg270Cys					SPRY4_ENST00000434127.2_Missense_Mutation_p.R270C	p.R293C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1063	-		all_hematologic(541;0.118)	270					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.877C>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830554	0.71258	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	T;T	0.70516	-0.49;-0.46	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86891	0.2048	10	0.87932	D	0	-33.3132	13.5702	0.61843	0.0:0.0:0.8447:0.1553	.	270	Q9C004	SPY4_HUMAN	C	293;270	ENSP00000344967:R293C;ENSP00000399468:R270C	ENSP00000344967:R293C	R	-	1	0	SPRY4	141674050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.759000	0.68785	2.604000	0.88044	0.655000	0.94253	CGC		0.642	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			6	42	0	0	0	1	0	6	42					A	141693866	G	A	141693866	3	1	417	1	0	0	0	0	1	0	0	0	15107	1116	39	1	95	1	SPRY4	5	141693866	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		141693866	39221394	8	36071											
CACNA2D1	781	broad.mit.edu	37	chr7	81964495	81964495	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtttctcaatatcccTggctgcaatttctaccagct	6	12	2	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr7:81964495T>C	ENST00000356253.5	-	3	505	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R84G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	84					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAATATCCCTGGCTGCAATT	0.333																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(250-252)Agg>Ggg		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						187	195	192					7																	81964495		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81964495T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.250A>G	7.37:g.81964495T>C	ENSP00000348589:p.Arg84Gly					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R84G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G	p.R84G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			3	588	-			84					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.250A>G		.	.	.	.	.	.	.	.	.	.	T	10.05	1.243150	0.22796	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.22539	3.26;3.27;1.95	5.8	3.4	0.38934	.	0.062472	0.64402	N	0.000010	T	0.11367	0.0277	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16276	-1.0408	10	0.15066	T	0.55	-7.5107	8.0659	0.30661	0.0:0.0665:0.2544:0.6791	.	84	P54289-2	.	G	84	ENSP00000349320:R84G;ENSP00000348589:R84G;ENSP00000405395:R84G	ENSP00000284088:R84G	R	-	1	2	CACNA2D1	81802431	0.998000	0.40836	0.984000	0.44739	0.997000	0.91878	0.637000	0.24659	0.440000	0.26502	0.528000	0.53228	AGG		0.333	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	352	0	0	0	1	0	6	352					C	81964495	T	C	81964495	3	2	417	1	0	0	0	0	1	0	0	0	2548	1579	55	3	3173	3	CACNA2D1	7	81964495	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		81964495	77174168	9	36072											
EPB49	2039	broad.mit.edu	37	chr8	21938322	21938322	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttggtctccccagaacggaGagggccagagggggaggatg	18	8	1	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:21938322G>A	ENST00000523266.1	+	14	1426	c.964G>A	c.(964-966)Gag>Aag	p.E322K	DMTN_ENST00000443491.2_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.E322K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000265800.5_Missense_Mutation_p.E322K|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000358242.3_Missense_Mutation_p.E322K|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.E282K	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	322					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CCAGAACGGAGAGGGCCAGAG	0.662																																						ENST00000358242.3																			0											c.(964-966)Gag>Aag		dematin actin binding protein							12	15	14					8																	21938322		2146	4171	6317	SO:0001583	missense	2039							g.chr8:21938322G>A	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.964G>A	8.37:g.21938322G>A	ENSP00000427866:p.Glu322Lys					DMTN_ENST00000523266.1_Missense_Mutation_p.E322K|DMTN_ENST00000415253.1_Intron|DMTN_ENST00000517600.1_Missense_Mutation_p.E282K|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.E322K|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000265800.5_Missense_Mutation_p.E322K	p.E322K							14	1457	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.964G>A	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194117	0.58017	.	.	ENSG00000158856	ENST00000432128;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000523266	T;T;T;T;T	0.43688	1.54;0.94;1.54;1.54;1.54	3.66	3.66	0.41972	.	0.265230	0.31734	N	0.007153	T	0.34629	0.0904	L	0.53249	1.67	0.80722	D	1	P;B;B	0.38827	0.649;0.363;0.363	B;B;B	0.33042	0.157;0.096;0.041	T	0.37197	-0.9716	10	0.62326	D	0.03	.	10.7031	0.45939	0.0:0.0:1.0:0.0	.	261;282;322	E9PD40;B4DI75;Q08495	.;.;DEMA_HUMAN	K	322;282;282;322;261;322;322	ENSP00000416111:E322K;ENSP00000430618:E282K;ENSP00000265800:E322K;ENSP00000350977:E322K;ENSP00000427866:E322K	ENSP00000265800:E322K	E	+	1	0	EPB49	21994268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.808000	0.75206	1.890000	0.54733	0.305000	0.20034	GAG		0.662	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		10	8	0	0	0	1	0	10	8					A	21938322	G	A	21938322	3	1	417	1	0	0	0	0	1	0	0	0	5159	943	33	2	1014	2	EPB49	8	21938322	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		21938322	124425700	10	36073											
HNF4G	3174	broad.mit.edu	37	chr8	76470774	76470774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaactatgttattcaccGcaacagctgtgaagttgaga	8	8	1	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:76470774G>A	ENST00000354370.1	+	8	884	c.614G>A	c.(613-615)cGc>cAc	p.R205H	HNF4G_ENST00000396423.2_Missense_Mutation_p.R242H			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	205					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTATTCACCGCAACAGCTGT	0.378																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(724-726)cGc>cAc		hepatocyte nuclear factor 4, gamma							121	118	119					8																	76470774		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76470774G>A		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.614G>A	8.37:g.76470774G>A	ENSP00000346339:p.Arg205His					HNF4G_ENST00000354370.1_Missense_Mutation_p.R205H	p.R242H	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		7	849	+	Breast(64;0.0448)		205					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.725G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.267296	0.95399	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.96992	-4.2;-4.2	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.946	D	0.98971	1.0801	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	242;205	F1D8Q4;Q14541	.;HNF4G_HUMAN	H	205;242	ENSP00000346339:R205H;ENSP00000379701:R242H	ENSP00000346339:R205H	R	+	2	0	HNF4G	76633329	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.414000	0.97362	2.809000	0.96659	0.655000	0.94253	CGC		0.378	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		4	208	0	0	0	1	0	4	208					A	76470774	G	A	76470774	3	1	417	1	0	0	0	0	1	0	0	0	7254	1087	38	1	751	1	HNF4G	8	76470774	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	54532452	76470774	69893248	11	36074											
CA9	768	broad.mit.edu	37	chr9	35676353	35676353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggccttggggcgcccGggaggcctggccgtgttggc	20	12	0	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:35676353G>A	ENST00000378357.4	+	5	911	c.807G>A	c.(805-807)ccG>ccA	p.P269P	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	269	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGGGGCGCCCGGGAGGCCTGG	0.637																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(805-807)ccG>ccA		carbonic anhydrase IX							113	118	117					9																	35676353		2203	4300	6503	SO:0001819	synonymous_variant	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35676353G>A	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"Carbonic anhydrases"	1383	protein-coding gene	gene with protein product	"carbonic dehydratase", "RCC-associated protein G250"	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.807G>A	9.37:g.35676353G>A						CA9_ENST00000493245.1_Intron	p.P269P	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	911	+	all_epithelial(49;0.217)		269			Catalytic.		Q5T4R1	Silent	SNP	ENST00000378357.4	37	c.807G>A	CCDS6585.1																																																																																				0.637	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		9	210	0	0	0	1	0	9	210					A	35676353	G	A	35676353	2	1	417	1	0	0	0	0	0	0	0	1	2524	1103	39	1		1	CA9	9	35676353	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		35676353	105537078	12	36075											
SVEP1	79987	broad.mit.edu	37	chr9	113171073	113171073	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgaagccattctggatCgggggaggttttccacagtc	12	9	2	1	rs373455337		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:113171073C>T	ENST00000401783.2	-	38	7143	c.6807G>A	c.(6805-6807)ccG>ccA	p.P2269P	SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2269	Sushi 15. {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)	p.P2272P(1)		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						CATTCTGGATCGGGGGAGGTT	0.478																																						ENST00000401783.2																			1	Substitution - coding silent(1)	p.P2272P(1)	endometrium(1)	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						c.(6805-6807)ccG>ccA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1		C		0,3854		0,0,1927	138	136	137		6807	-11.6	0.1	9		137	1,8297		0,1,4148	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6075	TT,TC,CC		0.0121,0.0,0.0082		2269/3572	113171073	1,12151	1927	4149	6076	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171073C>T	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.6807G>A	9.37:g.113171073C>T						SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	p.P2269P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7143	-			2269			Sushi 15.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.6807G>A	CCDS48004.1																																																																																				0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				65	86	0	0	0	1	0	65	86					T	113171073	C	T	113171073	2	4	417	1	0	0	0	0	0	0	0	1	15417	871	31	1		1	SVEP1	9	113171073	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	77494720	113171073	28042358	13	36076											
BRD3	8019	broad.mit.edu	37	chr9	136915518	136915518	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacgacaggcggcgtaggaGggaccacggggacgatgggt	20	8	0	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:136915518G>C	ENST00000303407.7	-	5	877	c.692C>G	c.(691-693)cCt>cGt	p.P231R	BRD3_ENST00000357885.2_Missense_Mutation_p.P231R|BRD3_ENST00000371834.2_Missense_Mutation_p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	231					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)		CGGCGTAGGAGGGACCACGGG	0.687			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(691-693)cCt>cGt		bromodomain containing 3							58	60	59					9																	136915518		2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915518G>C		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.692C>G	9.37:g.136915518G>C	ENSP00000305918:p.Pro231Arg					BRD3_ENST00000357885.2_Missense_Mutation_p.P231R|BRD3_ENST00000371834.2_Missense_Mutation_p.P231R	p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	877	-			231					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.692C>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122011	0.56613	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.41400	1.0;1.0;1.0	4.88	4.88	0.63580	.	0.075809	0.53938	D	0.000048	T	0.67011	0.2848	M	0.79805	2.47	0.80722	D	1	P;D	0.71674	0.939;0.998	P;D	0.76071	0.725;0.987	T	0.71290	-0.4637	10	0.56958	D	0.05	-15.1902	17.3626	0.87355	0.0:0.0:1.0:0.0	.	231;231	Q15059-2;Q15059	.;BRD3_HUMAN	R	231	ENSP00000305918:P231R;ENSP00000360900:P231R;ENSP00000350557:P231R	ENSP00000305918:P231R	P	-	2	0	BRD3	135905339	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	7.622000	0.83099	2.404000	0.81709	0.491000	0.48974	CCT		0.687	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		5	44	0	0	0	1	0	5	44					C	136915518	G	C	136915518	3	2	417	1	0	0	0	0	1	0	0	0	1503	1000	35	4	1520	4	BRD3	9	136915518	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	23744445	136915518	4297913	14	36077											
FAM171A1	221061	broad.mit.edu	37	chr10	15255062	15255062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgctggctccgaggggGcatccgcagtccgtctggtc	16	13	1	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:15255062G>A	ENST00000378116.4	-	8	2531	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	842						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						CTCCGAGGGGGCATCCGCAGT	0.617																																						ENST00000378116.4																			0				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						c.(2524-2526)gCc>gTc		family with sequence similarity 171, member A1							97	103	101					10																	15255062		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255062G>A	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.2525C>T	10.37:g.15255062G>A	ENSP00000367356:p.Ala842Val						p.A842V	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2531	-			842					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2525C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	2.561	-0.301862	0.05495	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.28895	1.59	5.1	-9.64	0.00541	.	0.720025	0.13551	N	0.379484	T	0.09247	0.0228	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17258	-1.0375	10	0.25106	T	0.35	-1.6633	7.8323	0.29349	0.0955:0.2656:0.5507:0.0883	.	842	Q5VUB5	F1711_HUMAN	V	842;841	ENSP00000367356:A842V	ENSP00000367356:A842V	A	-	2	0	FAM171A1	15295068	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	0.315000	0.19451	-2.078000	0.00872	-0.253000	0.11424	GCC		0.617	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		4	158	0	0	0	1	0	4	158					A	15255062	G	A	15255062	3	1	417	1	0	0	0	0	1	0	0	0	5490	1203	42	2	151	2	FAM171A1	10	15255062	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		15255062	120279685	15	36078											
SIRT1	23411	broad.mit.edu	37	chr10	69669183	69669183	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctcaaagtaagaccAgtagcactaattccaagtaa	5	11	2	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:69669183A>G	ENST00000212015.6	+	7	1394	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P	SIRT1_ENST00000432464.1_Silent_p.P152P|SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000406900.1_Silent_p.P144P	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	447	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAGTAAGACCAGTAGCACTAA	0.368																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1339-1341)ccA>ccG		sirtuin 1							82	77	78					10																	69669183		2203	4300	6503	SO:0001819	synonymous_variant	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69669183A>G	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1341A>G	10.37:g.69669183A>G						SIRT1_ENST00000406900.1_Silent_p.P144P|SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000432464.1_Silent_p.P152P	p.P447P	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			7	1394	+			447			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Silent	SNP	ENST00000212015.6	37	c.1341A>G	CCDS7273.1																																																																																				0.368	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			20	29	0	0	0	1	0	20	29					G	69669183	A	G	69669183	2	3	417	1	0	0	0	0	0	0	0	1	14337	175	7	3		3	SIRT1	10	69669183	Silent	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	54414121	69669183	65865564	16	36079											
GALNTL4	374378	broad.mit.edu	37	chr11	11400788	11400788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcaccttgtccacatattCggtcagcttctccttcagtt	6	13	4	0	rs139800432		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:11400788C>T	ENST00000227756.4	-	4	1030	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	207	Catalytic subdomain A.				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)										TCCACATATTCGGTCAGCTTC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21054	0.0		0.0	False		,,,				2504	0.0					ENST00000227756.4																			0											c.(619-621)Gaa>Aaa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18		C	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	160	129	139		619	3.2	0	11	dbSNP_134	139	0,8588		0,0,4294	no	missense	GALNTL4	NM_198516.2	56	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	benign	207/608	11400788	1,12989	2201	4294	6495	SO:0001583	missense	374378							g.chr11:11400788C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.619G>A	11.37:g.11400788C>T	ENSP00000227756:p.Glu207Lys						p.E207K	NM_198516.2	NP_940918.2					4	1030	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.619G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449737	0.12223	2.27E-4	0.0	ENSG00000110328	ENST00000227756	T	0.60299	0.2	5.98	3.15	0.36227	Glycosyl transferase, family 2 (1);	0.459195	0.22753	N	0.056046	T	0.36358	0.0964	N	0.20401	0.57	0.31325	N	0.685512	B	0.02656	0.0	B	0.06405	0.002	T	0.25012	-1.0144	10	0.32370	T	0.25	.	5.3044	0.15795	0.0:0.5702:0.1372:0.2926	.	207	Q6P9A2	GLTL4_HUMAN	K	207	ENSP00000227756:E207K	ENSP00000227756:E207K	E	-	1	0	GALNTL4	11357364	0.764000	0.28473	0.007000	0.13788	0.318000	0.28184	1.668000	0.37481	0.443000	0.26582	-0.346000	0.07831	GAA		0.552	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		5	78	0	0	0	1	0	5	78					T	11400788	C	T	11400788	3	4	417	1	0	0	0	0	1	0	0	0	6223	893	31	1	1236	1	GALNTL4	11	11400788	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		11400788	123605728	17	36080											
OR5L1	219437	broad.mit.edu	37	chr11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgctacttctgtgggaCggtgtgttctctgattcatt	11	8	3	1	rs144467940	byFrequency	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153						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)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													N|||	6	0.00119808	0.0	0.0	5008	,	,		22333	0.0		0.006	False		,,,				2504	0.0					ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(457-459)aCg>aTg		olfactory receptor, family 5, subfamily L, member 1							217	181	193					11																	55579400		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579400C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.458C>T	11.37:g.55579400C>T	ENSP00000335529:p.Thr153Met						p.T153M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	547	+		all_epithelial(135;0.208)	153					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.458C>T	CCDS31509.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	c	9.351	1.065546	0.20067	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	3.98	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.729368	0.12300	N	0.481164	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.25105	0.118	B	0.28991	0.097	T	0.09292	-1.0681	10	0.44086	T	0.13	-0.6723	10.911	0.47108	0.0:0.2882:0.0:0.7118	.	153	Q8NGL2	OR5L1_HUMAN	M	153	ENSP00000335529:T153M	ENSP00000335529:T153M	T	+	2	0	OR5L1	55335976	0.000000	0.05858	0.000000	0.03702	0.520000	0.34377	-0.308000	0.08156	-0.861000	0.04094	-0.516000	0.04426	ACG		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		109	103	0	0	0	1	0	109	103					T	55579400	C	T	55579400	3	4	417	1	0	0	0	0	1	0	0	0	11170	536	19	1	460	1	OR5L1	11	55579400	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	44178612	55579400	79427116	18	36081											
OR5T1	390155	broad.mit.edu	37	chr11	56043676	56043676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatccaatgaaattaggCatgtcttttgtaatatgcct	9	6	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:56043676C>T	ENST00000313033.2	+	1	648	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H188D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAAATTAGGCATGTCTTTTG	0.408																																						ENST00000313033.2																			1	Substitution - Missense(1)	p.H188D(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(562-564)Cat>Tat		olfactory receptor, family 5, subfamily T, member 1							247	230	236					11																	56043676		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043676C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.562C>T	11.37:g.56043676C>T	ENSP00000323612:p.His188Tyr						p.H188Y	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	648	+	Esophageal squamous(21;0.00448)		188					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.562C>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488439	0.44249	.	.	ENSG00000181698	ENST00000313033	T	0.00183	8.6	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.00412	0.0013	M	0.86097	2.795	0.09310	N	1	B	0.31989	0.35	B	0.44163	0.443	T	0.05037	-1.0910	10	0.72032	D	0.01	.	14.0573	0.64776	0.0:1.0:0.0:0.0	.	188	Q8NG75	OR5T1_HUMAN	Y	188	ENSP00000323612:H188Y	ENSP00000323612:H188Y	H	+	1	0	OR5T1	55800252	0.962000	0.33011	0.031000	0.17742	0.099000	0.18886	2.611000	0.46334	1.943000	0.56356	0.465000	0.42564	CAT		0.408	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		46	198	0	0	0	1	0	46	198					T	56043676	C	T	56043676	3	4	417	1	0	0	0	0	1	0	0	0	11181	710	25	2	564	2	OR5T1	11	56043676	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	464276	56043676	78962840	19	36082											
AHNAK	79026	broad.mit.edu	37	chr11	62287084	62287084	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttcaccaccttctaacttCggacctgaaaatccaatttt	3	13	2	1	rs149805243		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					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)				CTTCTAACTTCGGACCTGAAA	0.458																																						ENST00000378024.4																			0				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						c.(14803-14805)ccG>ccA		AHNAK nucleoprotein		C	,	1,4403	2.1+/-5.4	0,1,2201	93	87	89		14805,	0.1	0.3	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,2,6499	TT,TC,CC		0.0116,0.0227,0.0154	,	4935/5891,	62287084	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287084C>T	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.14805G>A	11.37:g.62287084C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4935P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	15079	-		Melanoma(852;0.155)	4935					A1A586	Silent	SNP	ENST00000378024.4	37	c.14805G>A	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	156	0	0	0	1	0	6	156					T	62287084	C	T	62287084	2	4	417	1	0	0	0	0	0	0	0	1	414	871	31	1		1	AHNAK	11	62287084	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	6243408	62287084	72719432	20	36083											
GANAB	23193	broad.mit.edu	37	chr11	62401811	62401811	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttcttgatcttatcccaTatgctaccaagcgtgagatt	8	9	2	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62401811T>C	ENST00000356638.3	-	5	577				GANAB_ENST00000346178.4_Missense_Mutation_p.I199M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_Intron|GANAB_ENST00000534779.1_Missense_Mutation_p.I85M	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB						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 lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCTTATCCCATATGCTACCAA	0.478																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(595-597)atA>atG		glucosidase, alpha; neutral AB							171	176	174					11																	62401811		1922	4122	6044	SO:0001627	intron_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62401811T>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.560+481A>G	11.37:g.62401811T>C						GANAB_ENST00000356638.3_Intron|GANAB_ENST00000534779.1_Missense_Mutation_p.I85M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534422.1_Intron	p.I199M	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			6	612	-			187					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.597A>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579082	0.28180	.	.	ENSG00000089597	ENST00000346178;ENST00000534779;ENST00000525994	D;D;T	0.88431	-2.32;-2.38;1.28	5.39	-9.24	0.00669	.	1.755040	0.02816	N	0.124910	T	0.74023	0.3662	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.44711	-0.9310	10	0.45353	T	0.12	0.0114	7.1233	0.25456	0.192:0.2833:0.0:0.5246	.	85;199	E9PKU7;Q14697-2	.;.	M	199;85;85	ENSP00000340466:I199M;ENSP00000435306:I85M;ENSP00000434805:I85M	ENSP00000340466:I199M	I	-	3	3	GANAB	62158387	0.985000	0.35326	0.683000	0.30040	0.972000	0.66771	0.223000	0.17719	-2.137000	0.00809	-1.063000	0.02288	ATA		0.478	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		36	89	0	0	0	1	0	36	89					C	62401811	T	C	62401811	1	2	417	0	1	0	0	0	0	0	0	0	6233	1396	49	3		3	GANAB	11	62401811	Intron	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08	114727	62401811	72604705	21	36084											
CBL	867	broad.mit.edu	37	chr11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-													tgaaggacgccttccagccgCaccaccaccaccaccaccac							TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)cacdel	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42	Sufficient for interaction with EPHB1.				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)			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)		CTTCCAGCCGcaccaccaccacc	0.675			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				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						c.(106-108)del		Cbl proto-oncogene, E3 ubiquitin protein ligase				27,80,3153		5,0,17,5,70,1533						-0.3	1			11	13,198,6595		2,0,9,20,158,3214	no	codingComplex	CBL	NM_005188.2		7,0,26,25,228,4747	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1002,3.2822,3.1591				40,278,9748				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	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	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119077233_119077235delCAC	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.106_108delCAC	11.37:g.119077242_119077244delCAC	ENSP00000264033:p.His42del						p.H42del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	1	482_484	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	42					A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.106_108delCAC	CCDS8418.1																																																																																				0.675	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		2	4						2	4	---	---	---	---	-	119077235	CAC	-	119077233	7	5	417	1	0	1	0	1	0	0	0	0	2700	710	25	0	108	0	CBL	11	119077233	In_Frame_Del	DEL	CAC	TCGA-S9-A6TY-01A-12D-A32B-08	56675422	119077233	15929283	22	36085											
APAF1	317	broad.mit.edu	37	chr12	99097198	99097198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaatccacacgggccAtcacagcaccatccagtact	9	14	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr12:99097198A>G	ENST00000551964.1	+	18	3252	c.2516A>G	c.(2515-2517)cAt>cGt	p.H839R	APAF1_ENST00000547045.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.H828R|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	839					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)	CACACGGGCCATCACAGCACC	0.408																																						ENST00000550527.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2482-2484)cAt>cGt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107	95	99					12																	99097198		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99097198A>G	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.2516A>G	12.37:g.99097198A>G	ENSP00000448165:p.His839Arg					APAF1_ENST00000357310.1_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.H839R|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Intron	p.H828R			O14727	APAF_HUMAN			17	2490	+			839					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2483A>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.538450	0.27475	.	.	ENSG00000120868	ENST00000551964;ENST00000550527	T;T	0.44881	0.91;0.91	5.93	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.297542	0.43110	N	0.000610	T	0.37758	0.1015	L	0.55213	1.73	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17198	-1.0377	10	0.49607	T	0.09	-6.1162	9.973	0.41765	0.9147:0.0:0.0853:0.0	.	839;828	O14727;O14727-2	APAF_HUMAN;.	R	839;828	ENSP00000448165:H839R;ENSP00000448449:H828R	ENSP00000448449:H828R	H	+	2	0	APAF1	97621329	1.000000	0.71417	0.897000	0.35233	0.932000	0.56968	3.164000	0.50770	1.053000	0.40415	0.533000	0.62120	CAT		0.408	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		25	26	0	0	0	1	0	25	26					G	99097198	A	G	99097198	3	3	417	1	0	0	0	0	1	0	0	0	755	217	8	3	2582	3	APAF1	12	99097198	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08		99097198	34754697	23	36086											
F10	2159	broad.mit.edu	37	chr13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttccgcatgaacgtggCgcctgcctgcctccccgagc	10	19	0	1	rs201675411		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ATGAACGTGGCGCCTGCCTGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15189	0.0		0.0	False		,,,				2504	0.0					ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1015-1017)gCg>gTg		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						121	94	103					13																	113803380		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803380C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1016C>T	13.37:g.113803380C>T	ENSP00000364709:p.Ala339Val					F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	p.A339V	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1054	+	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	339			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1016C>T	CCDS9530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.062	-1.221331	0.01530	.	.	ENSG00000126218	ENST00000375559	D	0.89050	-2.46	5.25	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.398760	0.25903	N	0.027551	T	0.66015	0.2747	N	0.10760	0.04	0.09310	N	1	P	0.37015	0.578	B	0.29598	0.104	T	0.64462	-0.6402	10	0.02654	T	1	.	3.4406	0.07462	0.0:0.4945:0.1999:0.3056	.	339	P00742	FA10_HUMAN	V	339	ENSP00000364709:A339V	ENSP00000364709:A339V	A	+	2	0	F10	112851381	0.226000	0.23696	0.813000	0.32504	0.000000	0.00434	3.712000	0.54875	1.215000	0.43411	-0.251000	0.11542	GCG		0.637	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			5	111	0	0	0	1	0	5	111					T	113803380	C	T	113803380	3	4	417	1	0	0	0	0	1	0	0	0	5336	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		113803380	1366498	24	36087											
WDHD1	11169	broad.mit.edu	37	chr14	55467292	55467292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagatttccttccgcatcagTatacgatattcgaccacaag	6	11	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:55467292T>C	ENST00000360586.3	-	10	936	c.871A>G	c.(871-873)Act>Gct	p.T291A	WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A|WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	291					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCCGCATCAGTATACGATATT	0.393																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(871-873)Act>Gct		WD repeat and HMG-box DNA binding protein 1							150	140	143					14																	55467292		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55467292T>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.871A>G	14.37:g.55467292T>C	ENSP00000353793:p.Thr291Ala					WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A|WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A	p.T291A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			10	936	-			291					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.871A>G	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149216	0.57151	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	T;T	0.63744	5.24;-0.06	4.98	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.62723	1.935	0.80722	D	1	P	0.49635	0.926	P	0.59424	0.857	T	0.66500	-0.5908	10	0.08179	T	0.78	.	14.8359	0.70183	0.0:0.0:0.0:1.0	.	291	O75717	WDHD1_HUMAN	A	291;168	ENSP00000353793:T291A;ENSP00000391049:T168A	ENSP00000353793:T291A	T	-	1	0	WDHD1	54537042	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	5.239000	0.65371	2.101000	0.63845	0.528000	0.53228	ACT		0.393	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		3	70	0	0	0	1	0	3	70					C	55467292	T	C	55467292	3	2	417	1	0	0	0	0	1	0	0	0	17268	1638	57	3	2586	3	WDHD1	14	55467292	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		55467292	51882248	25	36088											
RDH12	145226	broad.mit.edu	37	chr14	68192802	68192802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catattctgatcaacaatgcGggagtaatgatgtgtccata	9	7	2	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:68192802G>A	ENST00000551171.1	+	6	702	c.378G>A	c.(376-378)gcG>gcA	p.A126A	RDH12_ENST00000539142.1_Silent_p.A126A|RDH12_ENST00000267502.3_Silent_p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	126			A -> V (in RP53). {ECO:0000269|PubMed:19140180}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TCAACAATGCGGGAGTAATGA	0.463																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(376-378)gcG>gcA		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						191	182	185					14																	68192802		2203	4300	6503	SO:0001819	synonymous_variant	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68192802G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19977	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 2"	608830	"retinol dehydrogenase 12 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.378G>A	14.37:g.68192802G>A						RDH12_ENST00000267502.3_Silent_p.A126A|RDH12_ENST00000539142.1_Silent_p.A126A	p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	6	702	+			126		A -> V (in RP53).			B2RDA2|Q8TAW6	Silent	SNP	ENST00000551171.1	37	c.378G>A	CCDS9787.1																																																																																				0.463	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			5	167	0	0	0	1	0	5	167					A	68192802	G	A	68192802	2	1	417	1	0	0	0	0	0	0	0	1	13191	1103	39	1		1	RDH12	14	68192802	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	12725510	68192802	39156738	26	36089											
THBS1	7057	broad.mit.edu	37	chr15	39885372	39885372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctaactgggttgtacGccatcagggtaaagaactcg	11	10	1	2	rs201957578		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:39885372G>A	ENST00000260356.5	+	18	3104	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	980	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGGGTTGTACGCCATCAGGGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		20799	0.001		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2938-2940)cGc>cAc		thrombospondin 1	Becaplermin(DB00102)						71	63	65					15																	39885372		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885372G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2939G>A	15.37:g.39885372G>A	ENSP00000260356:p.Arg980His						p.R980H	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	18	3104	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	980			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2939G>A	CCDS32194.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.4	5.001539	0.93227	.	.	ENSG00000137801	ENST00000260356	D	0.95272	-3.66	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36665	N	0.002479	D	0.95822	0.8640	L	0.39245	1.2	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94311	0.7545	10	0.28530	T	0.3	-28.2234	19.757	0.96298	0.0:0.0:1.0:0.0	.	895;980	B4E3J7;P07996	.;TSP1_HUMAN	H	980	ENSP00000260356:R980H	ENSP00000260356:R980H	R	+	2	0	THBS1	37672664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.667000	0.90743	0.655000	0.94253	CGC		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		23	33	0	0	0	1	0	23	33					A	39885372	G	A	39885372	3	1	417	1	0	0	0	0	1	0	0	0	15850	1087	38	1	3005	1	THBS1	15	39885372	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		39885372	62646020	27	36090											
ZFYVE19	84936	broad.mit.edu	37	chr15	41105573	41105573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcccagacagtgatgaCgacgaggatgaggagacagc	14	11	0	5	rs557912109		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:41105573C>T	ENST00000355341.4	+	8	1569	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ZFYVE19_ENST00000299173.10_Silent_p.D288D|ZFYVE19_ENST00000564258.1_Silent_p.D181D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	356					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)		ACAGTGATGACGACGAGGATG	0.587																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(1066-1068)gaC>gaT		zinc finger, FYVE domain containing 19							51	57	55					15																	41105573		2081	4214	6295	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41105573C>T	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.1068C>T	15.37:g.41105573C>T						ZFYVE19_ENST00000564258.1_Silent_p.D181D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D|ZFYVE19_ENST00000299173.10_Silent_p.D288D	p.D356D	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	8	1569	+		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)	356					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.1068C>T	CCDS42025.1																																																																																				0.587	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		6	9	0	0	0	1	0	6	9					T	41105573	C	T	41105573	2	4	417	1	0	0	0	0	0	0	0	1	17662	535	19	1		1	ZFYVE19	15	41105573	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	1220201	41105573	61425819	28	36091											
DUOX1	53905	broad.mit.edu	37	chr15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccttgaacaatttgtgCggctacgggatggtgaccgc	13	10	0	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1519-1521)Cgg>Tgg		dual oxidase 1							116	110	112					15																	45433222		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433222C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1519C>T	15.37:g.45433222C>T	ENSP00000317997:p.Arg507Trp					DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W	p.R507W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1926	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	507			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1519C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373255	0.61624	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73469	-0.75;-0.75	4.46	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89483	0.3751	10	0.87932	D	0	-18.5535	10.9307	0.47215	0.3523:0.6477:0.0:0.0	.	507	Q9NRD9	DUOX1_HUMAN	W	507	ENSP00000317997:R507W;ENSP00000373689:R507W	ENSP00000317997:R507W	R	+	1	2	DUOX1	43220514	1.000000	0.71417	0.975000	0.42487	0.305000	0.27757	3.071000	0.50041	0.545000	0.28902	0.650000	0.86243	CGG		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	118	0	0	0	1	0	4	118					T	45433222	C	T	45433222	3	4	417	1	0	0	0	0	1	0	0	0	4800	759	27	1	1565	1	DUOX1	15	45433222	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	4327649	45433222	57098170	29	36092											
GLDN	342035	broad.mit.edu	37	chr15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcccagtctgttcttgCcatgttagcatacaacatga	6	11	2	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1552-1554)gCc>gTc		gliomedin							145	141	142					15																	51696848		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696848C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1553C>T	15.37:g.51696848C>T	ENSP00000335196:p.Ala518Val					GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	p.A518V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1609	+			518			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1553C>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		4	161	0	0	0	1	0	4	161					T	51696848	C	T	51696848	3	4	417	1	0	0	0	0	1	0	0	0	6434	739	26	2	1591	2	GLDN	15	51696848	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	6263626	51696848	50834544	30	36093											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			24	35	0	0	0	1	0	24	35					T	90631838	C	T	90631838	3	4	417	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	38934990	90631838	11899554	31	36094											
USP7	7874	broad.mit.edu	37	chr16	8988966	8988966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcgccactgtgacaagcatCtcattctctttgtctatgtc	7	12	3	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:8988966C>T	ENST00000344836.4	-	28	3159	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	USP7_ENST00000381886.4_Silent_p.E971E|USP7_ENST00000535863.1_Silent_p.E888E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	987					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGACAAGCATCTCATTCTCTT	0.498																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2959-2961)gaG>gaA		ubiquitin specific peptidase 7 (herpes virus-associated)							251	236	241					16																	8988966		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988966C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2961G>A	16.37:g.8988966C>T						USP7_ENST00000381886.4_Silent_p.E971E|USP7_ENST00000535863.1_Silent_p.E888E	p.E987E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			28	3159	-			987					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2961G>A	CCDS32385.1																																																																																				0.498	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			8	221	0	0	0	1	0	8	221					T	8988966	C	T	8988966	2	4	417	1	0	0	0	0	0	0	0	1	17085	912	32	2		2	USP7	16	8988966	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		8988966	81365787	32	36095											
DNAH2	146754	broad.mit.edu	37	chr17	7663154	7663154	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttggcaggtgtggtcaatGacattggcaaccacctcttt	10	10	2	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr17:7663154G>A	ENST00000572933.1	+	17	4143	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	895	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)				TGTGGTCAATGACATTGGCAA	0.507																																						ENST00000572933.1																			0				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						c.(2683-2685)Gac>Aac		dynein, axonemal, heavy chain 2							271	240	251					17																	7663154		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7663154G>A	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.2683G>A	17.37:g.7663154G>A	ENSP00000458355:p.Asp895Asn					DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N	p.D895N			Q9P225	DYH2_HUMAN			17	4143	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	895			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2683G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	8.382	0.837736	0.16891	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22743	1.94	5.35	4.17	0.49024	.	0.539063	0.18562	N	0.137590	T	0.08133	0.0203	N	0.03050	-0.425	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25257	-1.0137	10	0.13108	T	0.6	.	10.2419	0.43316	0.1719:0.0:0.8281:0.0	.	895	Q9P225	DYH2_HUMAN	N	895	ENSP00000373825:D895N	ENSP00000353818:D895N	D	+	1	0	DNAH2	7603879	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.645000	0.54389	2.519000	0.84933	0.491000	0.48974	GAC		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	218	0	0	0	1	0	5	218					A	7663154	G	A	7663154	3	1	417	1	0	0	0	0	1	0	0	0	4602	1290	45	2	2745	2	DNAH2	17	7663154	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		7663154	73532056	33	36096											
CXXC1	30827	broad.mit.edu	37	chr18	47810101	47810101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagcagcgctccatgtggcGcaaggcaacacgtgggttga	15	10	0	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:47810101G>A	ENST00000285106.6	-	11	2212	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	500					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						TCCATGTGGCGCAAGGCAACA	0.577																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1498-1500)Cgc>Tgc		CXXC finger protein 1							106	90	95					18																	47810101		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810101G>A	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.1498C>T	18.37:g.47810101G>A	ENSP00000285106:p.Arg500Cys					CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C	p.R500C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			11	2212	-			500					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1498C>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513283	0.64522	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.28255	1.62;1.62	4.65	3.71	0.42584	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.986	T	0.51973	-0.8637	10	0.87932	D	0	-17.9298	12.5177	0.56042	0.0:0.0:0.8333:0.1667	.	504;500;367	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	C	500;504	ENSP00000285106:R500C;ENSP00000390475:R504C	ENSP00000285106:R500C	R	-	1	0	CXXC1	46064099	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.601000	0.46249	2.290000	0.77057	0.467000	0.42956	CGC		0.577	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		28	37	0	0	0	1	0	28	37					A	47810101	G	A	47810101	3	1	417	1	0	0	0	0	1	0	0	0	4097	1087	38	1	492	1	CXXC1	18	47810101	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		47810101	30267147	34	36097											
SERPINB13	5275	broad.mit.edu	37	chr18	61262359	61262359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattctagggattccatatAaaaacaacgacctaagcatg	6	8	1	0	rs374164881		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:61262359A>G	ENST00000344731.5	+	7	814	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	238					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GATTCCATATAAAAACAACGA	0.433																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(712-714)Aaa>Gaa		serpin peptidase inhibitor, clade B (ovalbumin), member 13		A	GLU/LYS	0,4406		0,0,2203	134	127	129		712	4.7	0.9	18		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	56	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	238/392	61262359	1,13005	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61262359A>G	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.712A>G	18.37:g.61262359A>G	ENSP00000341584:p.Lys238Glu					SERPINB13_ENST00000269489.5_Intron	p.K238E	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			7	814	+			238					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.712A>G	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386286	0.42308	0.0	1.16E-4	ENSG00000197641	ENST00000539341;ENST00000344731;ENST00000415733	D;D	0.84370	-1.84;-1.84	5.82	4.65	0.58169	Serpin domain (3);	0.233346	0.30989	N	0.008473	D	0.82737	0.5102	L	0.41961	1.31	0.30593	N	0.761337	D;P;D	0.56746	0.961;0.463;0.977	P;B;P	0.59012	0.85;0.054;0.766	T	0.75491	-0.3299	10	0.07325	T	0.83	.	4.6946	0.12797	0.661:0.1878:0.1513:0.0	.	247;156;238	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	E	156;238;87	ENSP00000341584:K238E;ENSP00000391156:K87E	ENSP00000341584:K238E	K	+	1	0	SERPINB13	59413339	0.000000	0.05858	0.892000	0.35008	0.993000	0.82548	0.977000	0.29475	0.998000	0.38996	0.533000	0.62120	AAA		0.433	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		22	84	0	0	0	1	0	22	84					G	61262359	A	G	61262359	3	3	417	1	0	0	0	0	1	0	0	0	14100	363	13	3	734	3	SERPINB13	18	61262359	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	13452258	61262359	16814889	35	36098											
MAP2K7	5609	broad.mit.edu	37	chr19	7975888	7975888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgaaggcgctgtactacctGaaggagaagcacggtgtcat	14	8	1	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:7975888G>A	ENST00000397979.3	+	7	753	c.699G>A	c.(697-699)ctG>ctA	p.L233L	MAP2K7_ENST00000545011.1_Silent_p.L275L|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|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 neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGTACTACCTGAAGGAGAAGC	0.652																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(823-825)ctG>ctA		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						40	44	43					19																	7975888		2117	4235	6352	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975888G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.699G>A	19.37:g.7975888G>A						MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L|MAP2K7_ENST00000397979.3_Silent_p.L233L	p.L275L			O14733	MP2K7_HUMAN			7	890	+			233			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.825G>A	CCDS42491.1																																																																																				0.652	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			12	35	0	0	0	1	0	12	35					A	7975888	G	A	7975888	2	1	417	1	0	0	0	0	0	0	0	1	9242	1277	45	2		2	MAP2K7	19	7975888	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		7975888	51153095	36	36099											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	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)|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						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				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						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	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.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	50	0	0	0	1	0	3	50					T	21606468	C	T	21606468	3	4	417	1	0	0	0	0	1	0	0	0	17941	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	13630580	21606468	37522515	37	36100											
CEACAM16	388551	broad.mit.edu	37	chr19	45211437	45211437	+	Frame_Shift_Del	DEL	G	G	-													cagggcaagactgagacactGgaagtggagctgcaggtggc							TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:45211437delG	ENST00000405314.2	+	5	1342	c.1245delG	c.(1243-1245)ctgfs	p.L415fs	CEACAM16_ENST00000587331.1_Frame_Shift_Del_p.L415fs|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	415					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)				CTGAGACACTGGAAGTGGAGC	0.582																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1243-1245)ctfs		carcinoembryonic antigen-related cell adhesion molecule 16							30	29	29					19																	45211437		2118	4227	6345	SO:0001589	frameshift_variant	388551							g.chr19:45211437delG		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.1245delG	19.37:g.45211437delG	ENSP00000385576:p.Leu415fs					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Frame_Shift_Del_p.L415fs	p.L415fs	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1460	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	415					A7LI12	Frame_Shift_Del	DEL	ENST00000405314.2	37	c.1245delG	CCDS54278.1																																																																																				0.582	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		2	4						2	4	---	---	---	---	-	45211437	G	-	45211437	7	5	417	1	0	1	0	1	0	0	0	0	3188	1335	47	0	1263	0	CEACAM16	19	45211437	Frame_Shift_Del	DEL	G	TCGA-S9-A6TY-01A-12D-A32B-08	23604969	45211437	13917546	38	36101											
ZNF132	7691	broad.mit.edu	37	chr19	58948511	58948511	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcctcttgggagaagtaTacagccacatcttcaaaggt	8	11	3	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58948511T>C	ENST00000254166.3	-	2	535	c.135A>G	c.(133-135)gtA>gtG	p.V45V		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	45	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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		GGGAGAAGTATACAGCCACAT	0.488																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(133-135)gtA>gtG		zinc finger protein 132							111	89	96					19																	58948511		2203	4300	6503	SO:0001819	synonymous_variant	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58948511T>C	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.135A>G	19.37:g.58948511T>C							p.V45V	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	2	535	-		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)	45			KRAB.		Q32MI9	Silent	SNP	ENST00000254166.3	37	c.135A>G	CCDS12980.1																																																																																				0.488	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		3	33	0	0	0	1	0	3	33					C	58948511	T	C	58948511	2	2	417	1	0	0	0	0	0	0	0	1	17719	1393	49	3		3	ZNF132	19	58948511	Silent	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08	13737074	58948511	180472	39	36102											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770581	19770581	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttgcaaattaggatTatatgtaactccggatgtta	8	5	1	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr21:19770581T>A	ENST00000284885.3	-	2	244	c.211A>T	c.(211-213)Aat>Tat	p.N71Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	71	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.N71Y(1)		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						AAATTAGGATTATATGTAACT	0.358																																						ENST00000284885.3																			1	Substitution - Missense(1)	p.N71Y(1)	lung(1)	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						c.(211-213)Aat>Tat		transmembrane protease, serine 15							78	80	80					21																	19770581		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770581T>A		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.211A>T	21.37:g.19770581T>A	ENSP00000284885:p.Asn71Tyr						p.N71Y	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			2	244	-			71			SEA.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.211A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695120	0.68386	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	SEA (3);	0.191825	0.45867	D	0.000329	T	0.49236	0.1545	L	0.51422	1.61	0.34026	D	0.653213	D	0.57571	0.98	P	0.55112	0.769	T	0.62053	-0.6935	9	.	.	.	.	11.4355	0.50066	0.0:0.0:0.0:1.0	.	71	P98073	ENTK_HUMAN	Y	71;26	ENSP00000284885:N71Y;ENSP00000398253:N26Y	.	N	-	1	0	TMPRSS15	18692452	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.513000	0.60476	2.203000	0.70933	0.523000	0.50628	AAT		0.358	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		58	27	0	0	0	1	0	58	27					A	19770581	T	A	19770581	3	1	417	1	0	0	0	0	1	0	0	0	16243	1754	61	5	2944	5	TMPRSS15	21	19770581	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		19770581	28359314	40	36103											
ST13	6767	broad.mit.edu	37	chr22	41223196	41223196	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcccattccaggcattccTccgggaaaattaccaggcat	7	15	0	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr22:41223196T>C	ENST00000216218.3	-	11	1366	c.885A>G	c.(883-885)ggA>ggG	p.G295G		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	295	Gly/Met/Pro-rich.				chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGGCATTCCTCCGGGAAAAT	0.458																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(883-885)ggA>ggG		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							53	57	55					22																	41223196		2203	4298	6501	SO:0001819	synonymous_variant	6767						protein binding, bridging	g.chr22:41223196T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"Tetratricopeptide (TTC) repeat domain containing"	11343	protein-coding gene	gene with protein product	"progesterone receptor-associated p48 protein"	606796	"suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.885A>G	22.37:g.41223196T>C							p.G295G	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			11	1366	-			295			Gly/Met/Pro-rich.		O14999|Q2TU77	Silent	SNP	ENST00000216218.3	37	c.885A>G	CCDS14006.1																																																																																				0.458	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		24	39	0	0	0	1	0	24	39					C	41223196	T	C	41223196	2	2	417	1	0	0	0	0	0	0	0	1	15209	1538	54	3		3	ST13	22	41223196	Silent	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		41223196	10081370	41	36104											
AMELY	266	broad.mit.edu	37	chrY	6736157	6736158	+	Frame_Shift_Ins	INS	-	-	G													tatggggggcaggggccgcaINSgggggaacattggaggcaga							TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chrY:6736157_6736158insG	ENST00000383036.1	-	5	534_535	c.535_536insC	c.(535-537)ctgfs	p.L179fs	AMELY_ENST00000215479.5_Frame_Shift_Ins_p.L165fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.L179fs			Q99218	AMELY_HUMAN	amelogenin, Y-linked	179					biomineral tissue development (GO:0031214)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	structural constituent of tooth enamel (GO:0030345)			NS(1)|lung(5)	6						CAGGGGCCGCAGGGGGAACATT	0.619																																						ENST00000215479.5																			0				NS(1)|lung(5)	6						c.(493-495)gcgfs		amelogenin, Y-linked																																				SO:0001589	frameshift_variant	266				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chrY:6736157_6736158insG	M86933	CCDS14778.1	Yp11.2	2004-12-07	2003-09-12		ENSG00000099721	ENSG00000099721			462	protein-coding gene	gene with protein product		410000	"amelogenin (Y chromosome)"	AMGL		2004775	Standard	NM_001143		Approved		uc004fqz.3	Q99218	OTTHUMG00000035297	ENST00000383036.1:c.536dupC	Y.37:g.6736162_6736162dupG	ENSP00000372505:p.Leu179fs					AMELY_ENST00000383036.1_Frame_Shift_Ins_p.A179fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.A179fs	p.A165fs	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN			5	560_561	-			179			Gln-rich.		Q6RWT1	Frame_Shift_Ins	INS	ENST00000383036.1	37	c.493_494insC	CCDS14778.1																																																																																				0.619	AMELY-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000100214.1	NM_001143		5	2						5	2	---	---	---	---	G	6736158	-	G	6736157	7	5	417	1	0	1	1	0	0	0	0	0	570	188	7	0	92	0	AMELY	24	6736157	Frame_Shift_Ins	INS	-	TCGA-S9-A6TY-01A-12D-A32B-08		6736157	52637409	42	36105											
CASZ1	54897	broad.mit.edu	37	chr1	10710809	10710809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgtggccatttgattcGttgctagaacacacaaacca	8	11	0	2	rs141036792		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:10710809G>A	ENST00000377022.3	-	13	3137	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	CASZ1_ENST00000344008.5_Silent_p.N940N|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	940					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)		CATTTGATTCGTTGCTAGAAC	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		12993	0.0		0.001	False		,,,				2504	0.0					ENST00000377022.3																			0				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						c.(2818-2820)aaC>aaT		castor zinc finger 1							109	111	110					1																	10710809		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10710809G>A	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.2820C>T	1.37:g.10710809G>A						CASZ1_ENST00000344008.5_Silent_p.N940N|RP4-734G22.3_ENST00000606802.1_RNA	p.N940N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	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)	13	3137	-	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)	940					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.2820C>T	CCDS41246.1																																																																																				0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		27	80	0	0	0	1	0	27	80					A	10710809	G	A	10710809	2	1	418	1	0	0	0	0	0	0	0	1	2685	1136	40	1		1	CASZ1	1	10710809	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		10710809	238539812	1	36106											
AP4B1	10717	broad.mit.edu	37	chr1	114438891	114438891	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccacctatgcagtaaTacaacaaacgtcctagcatg	5	12	0	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:114438891T>A	ENST00000369569.1	-	8	1779	c.1499A>T	c.(1498-1500)tAt>tTt	p.Y500F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	500					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)		TATGCAGTAATACAACAAACG	0.448																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1498-1500)tAt>tTt		adaptor-related protein complex 4, beta 1 subunit							101	104	103					1																	114438891		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438891T>A	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.1499A>T	1.37:g.114438891T>A	ENSP00000358582:p.Tyr500Phe					AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F	p.Y500F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		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)	8	1779	-	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)	500					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1499A>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	9.714	1.157959	0.21454	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.25912	1.77;1.77;1.77	6.04	3.7	0.42460	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.495032	0.25156	N	0.032717	T	0.10981	0.0268	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.22983	0.078;0.025;0.076;0.013	B;B;B;B	0.32289	0.143;0.094;0.112;0.051	T	0.04386	-1.0955	10	0.56958	D	0.05	.	8.1664	0.31228	0.1207:0.0651:0.0:0.8142	.	500;332;500;401	B2RBF6;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	F	332;500;500	ENSP00000358580:Y332F;ENSP00000358582:Y500F;ENSP00000256658:Y500F	ENSP00000256658:Y500F	Y	-	2	0	AP4B1	114240414	1.000000	0.71417	0.094000	0.20943	0.908000	0.53690	4.781000	0.62389	0.507000	0.28148	0.460000	0.39030	TAT		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		6	123	0	0	0	1	0	6	123					A	114438891	T	A	114438891	3	1	418	1	0	0	0	0	1	0	0	0	751	1406	49	5	732	5	AP4B1	1	114438891	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	103728082	114438891	134811730	2	36107											
KIAA1614	57710	broad.mit.edu	37	chr1	180885464	180885464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccagggtatggggagtAcagctccagggcccctctgt	13	14	1	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:180885464A>G	ENST00000367588.4	+	2	280	c.225A>G	c.(223-225)gtA>gtG	p.V75V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	75										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TATGGGGAGTACAGCTCCAGG	0.597																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(223-225)gtA>gtG		KIAA1614							43	49	47					1																	180885464		1927	4127	6054	SO:0001819	synonymous_variant	57710							g.chr1:180885464A>G	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.225A>G	1.37:g.180885464A>G							p.V75V	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	280	+			75					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.225A>G	CCDS41442.1																																																																																				0.597	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		18	27	0	0	0	1	0	18	27					G	180885464	A	G	180885464	2	3	418	1	0	0	0	0	0	0	0	1	8248	378	14	3		3	KIAA1614	1	180885464	Silent	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	66446573	180885464	68365157	3	36108											
PTPRC	5788	broad.mit.edu	37	chr1	198668788	198668788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacattcagcggctccgccGccaatgcaaaactcaaccct	7	16	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:198668788G>A	ENST00000367376.2	+	5	559	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	130					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						CGGCTCCGCCGCCAATGCAAA	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367376.2																			0				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						c.(388-390)Gcc>Acc		protein tyrosine phosphatase, receptor type, C							106	112	110					1																	198668788		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198668788G>A	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.388G>A	1.37:g.198668788G>A	ENSP00000356346:p.Ala130Thr		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2100	PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron	p.A130T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			5	559	+			130					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.388G>A		.	.	.	.	.	.	.	.	.	.	G	17.82	3.483077	0.63962	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367	T;T	0.03094	4.31;4.05	5.21	3.31	0.37934	.	0.659066	0.12995	N	0.422089	T	0.05547	0.0146	L	0.56769	1.78	0.23396	N	0.997768	P;P;B;B;D;P	0.64830	0.824;0.852;0.168;0.291;0.994;0.955	B;B;B;B;B;B	0.43155	0.124;0.079;0.018;0.033;0.41;0.357	T	0.37384	-0.9708	10	0.46703	T	0.11	.	7.3357	0.26609	0.092:0.169:0.7389:0.0	.	66;66;66;171;130;130	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	T	132;66;130;130;171;64;130;64	ENSP00000356346:A132T;ENSP00000193532:A130T	ENSP00000271610:A171T	A	+	1	0	PTPRC	196935411	0.911000	0.30947	0.079000	0.20413	0.007000	0.05969	1.249000	0.32839	0.562000	0.29204	0.555000	0.69702	GCC		0.532	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	203	0	0	0	1	0	7	203					A	198668788	G	A	198668788	3	1	418	1	0	0	0	0	1	0	0	0	12797	1087	38	1	413	1	PTPRC	1	198668788	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	17783324	198668788	50581833	4	36109											
NT5C1B	93034	broad.mit.edu	37	chr2	18768782	18768782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcacctgattgctcagaCgaactcctgttttgtcagat	8	11	3	3	rs368786487		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:18768782C>T	ENST00000359846.2	-	2	184	c.107G>A	c.(106-108)cGt>cAt	p.R36H	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R36H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	36					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATTGCTCAGACGAACTCCTGT	0.438																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(106-108)cGt>cAt		5'-nucleotidase, cytosolic IB		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	175	159	165		107,107,107,107,107,107,107	4.2	0.2	2		165	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	29,29,29,29,29,29,29	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	36/611,36/594,36/628,36/613,36/651,36/603,36/551	18768782	1,13005	2203	4300	6503	SO:0001583	missense	93034							g.chr2:18768782C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.107G>A	2.37:g.18768782C>T	ENSP00000352904:p.Arg36His					NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R36H	p.R36H	NM_033253.3	NP_150278.2					2	207	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.107G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035197	0.35893	0.0	1.16E-4	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.94897	-3.55	5.1	4.22	0.49857	.	0.000000	0.44097	D	0.000495	D	0.94013	0.8082	L	0.27053	0.805	0.09310	N	1	D;D;P;D;B;P;P;P	0.89917	1.0;1.0;0.736;1.0;0.394;0.828;0.736;0.828	D;D;B;D;B;B;B;B	0.83275	0.996;0.994;0.099;0.996;0.099;0.201;0.099;0.201	D	0.87298	0.2303	10	0.51188	T	0.08	-9.8979	9.5647	0.39391	0.0:0.9052:0.0:0.0948	.	36;36;36;36;36;36;36;36	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	H	36	ENSP00000412639:R36H	ENSP00000305979:R36H	R	-	2	0	NT5C1B-RDH14;NT5C1B	18632263	0.797000	0.28877	0.154000	0.22540	0.114000	0.19823	1.943000	0.40253	1.376000	0.46267	0.563000	0.77884	CGT		0.438	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			36	60	0	0	0	1	0	36	60					T	18768782	C	T	18768782	3	4	418	1	0	0	0	0	1	0	0	0	10686	536	19	1	1761	1	NT5C1B	2	18768782	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		18768782	224430591	5	36110											
KBTBD10	10324	broad.mit.edu	37	chr2	170367045	170367045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacctccagaaaaaaatcAaagttctaaaagatgctttc	5	9	2	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:170367045A>G	ENST00000284669.1	+	1	834	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	253					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GAAAAAAATCAAAGTTCTAAA	0.398																																						ENST00000284669.1																			0											c.(757-759)Aaa>Gaa		kelch-like family member 41							73	83	79					2																	170367045		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170367045A>G	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.757A>G	2.37:g.170367045A>G	ENSP00000284669:p.Lys253Glu					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K253E	NM_006063.2	NP_006054.2					1	834	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.757A>G	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562459	0.45694	.	.	ENSG00000239474	ENST00000284669	T	0.71817	-0.6	5.02	5.02	0.67125	.	0.047096	0.85682	D	0.000000	T	0.58977	0.2160	L	0.36672	1.1	0.49389	D	0.999782	B	0.16396	0.017	B	0.15484	0.013	T	0.54879	-0.8227	10	0.10111	T	0.7	.	15.0427	0.71803	1.0:0.0:0.0:0.0	.	253	O60662	KBTBA_HUMAN	E	253	ENSP00000284669:K253E	ENSP00000284669:K253E	K	+	1	0	KBTBD10	170075291	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.661000	0.61518	2.021000	0.59480	0.383000	0.25322	AAA		0.398	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		5	77	0	0	0	1	0	5	77					G	170367045	A	G	170367045	3	3	418	1	0	0	0	0	1	0	0	0	7990	131	5	3	759	3	KBTBD10	2	170367045	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	151598263	170367045	72832328	6	36111											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	33	0	0	0	1	0	18	33					T	209113112	C	T	209113112	3	4	418	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	38746067	209113112	34086261	7	36112											
C4orf19	55286	broad.mit.edu	37	chr4	37591775	37591775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcaacagctgcaagcTagatgaagacgacactgata	10	8	1	5			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:37591775T>C	ENST00000284437.6	+	3	276	c.98T>C	c.(97-99)cTa>cCa	p.L33P	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	33										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCTGCAAGCTAGATGAAGAC	0.458																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(97-99)cTa>cCa		chromosome 4 open reading frame 19							247	260	255					4																	37591775		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591775T>C	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.98T>C	4.37:g.37591775T>C	ENSP00000284437:p.Leu33Pro					C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron	p.L33P	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	276	+			33					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.98T>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628365	0.46944	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.34667	1.35;1.35	5.54	3.05	0.35203	.	0.475226	0.17400	N	0.175566	T	0.47229	0.1434	L	0.59436	1.845	0.09310	N	0.999995	D	0.67145	0.996	D	0.63113	0.911	T	0.26360	-1.0105	10	0.66056	D	0.02	-1.9682	5.2667	0.15603	0.14:0.1507:0.0:0.7093	.	33	Q8IY42	CD019_HUMAN	P	33	ENSP00000371408:L33P;ENSP00000284437:L33P	ENSP00000284437:L33P	L	+	2	0	C4orf19	37268170	0.002000	0.14202	0.402000	0.26371	0.698000	0.40448	0.376000	0.20535	1.110000	0.41699	0.533000	0.62120	CTA		0.458	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		10	369	0	0	0	1	0	10	369					C	37591775	T	C	37591775	3	2	418	1	0	0	0	0	1	0	0	0	2253	1522	53	3	104	3	C4orf19	4	37591775	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08		37591775	153562501	8	36113											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68938111	68938111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaactttgatataaagcCttttcaatttttttcttgat	3	6	3	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:68938111C>T	ENST00000356291.2	-	5	503	c.444G>A	c.(442-444)aaG>aaA	p.K148K	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	148	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GATATAAAGCCTTTTCAATTT	0.323																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(442-444)aaG>aaA		transmembrane protease, serine 11F							96	97	96					4																	68938111		2202	4296	6498	SO:0001819	synonymous_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938111C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.444G>A	4.37:g.68938111C>T						RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	p.K148K	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			5	503	-			148			SEA.		A8MXX2	Silent	SNP	ENST00000356291.2	37	c.444G>A	CCDS3520.1																																																																																				0.323	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		11	56	0	0	0	1	0	11	56					T	68938111	C	T	68938111	2	4	418	1	0	0	0	0	0	0	0	1	16240	680	24	2		2	TMPRSS11F	4	68938111	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	31346336	68938111	122216165	9	36114											
UGT2B7	7364	broad.mit.edu	37	chr4	69962319	69962319	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaattgtggaaaggtgctGgtgtgggcagcagaatacag	18	4	0	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:69962319G>T	ENST00000508661.1	+	1	108	c.81G>T	c.(79-81)ctG>ctT	p.L27L	UGT2B7_ENST00000305231.7_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	27					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)	GAAAGGTGCTGGTGTGGGCAG	0.433																																						ENST00000305231.7																			0				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						c.(79-81)ctG>ctT		UDP glucuronosyltransferase 2 family, polypeptide B7							149	151	150					4																	69962319		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962319G>T	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.81G>T	4.37:g.69962319G>T						UGT2B7_ENST00000508661.1_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron	p.L27L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	127	+			27					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.81G>T																																																																																					0.433	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		11	93	1	0	3.07112e-06	1	3.16861e-06	11	93					T	69962319	G	T	69962319	2	4	418	1	0	0	0	0	0	0	0	1	16959	1335	47	4		4	UGT2B7	4	69962319	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	1024208	69962319	121191957	10	36115											
ADAMTS3	9508	broad.mit.edu	37	chr4	73169701	73169701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcatcttcaatgttaTaatcccactccacaccaaga	3	13	3	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:73169701T>C	ENST00000286657.4	-	17	2393	c.2357A>G	c.(2356-2358)tAt>tGt	p.Y786C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	786	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCAATGTTATAATCCCACTC	0.413																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2356-2358)tAt>tGt		ADAM metallopeptidase with thrombospondin type 1 motif, 3							224	214	217					4																	73169701		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169701T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2357A>G	4.37:g.73169701T>C	ENSP00000286657:p.Tyr786Cys						p.Y786C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2393	-			786			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2357A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494362	0.85069	.	.	ENSG00000156140	ENST00000286657	T	0.66815	-0.23	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	D	0.83912	0.5357	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87035	0.2137	10	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	786	O15072	ATS3_HUMAN	C	786	ENSP00000286657:Y786C	ENSP00000286657:Y786C	Y	-	2	0	ADAMTS3	73388565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.950000	0.87804	2.117000	0.64856	0.528000	0.53228	TAT		0.413	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	208	0	0	0	1	0	5	208					C	73169701	T	C	73169701	3	2	418	1	0	0	0	0	1	0	0	0	267	1406	49	3	1284	3	ADAMTS3	4	73169701	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	3207382	73169701	117984575	11	36116											
ADH1C	126	broad.mit.edu	37	chr4	100266127	100266127	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggccactgcattctcatcCaccactgtgtactgggagaa	9	12	1	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:100266127C>G	ENST00000510055.1	-	0	633				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATTCTCATCCACCACTGTGT	0.577																																						ENST00000510055.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)						96	94	95					4																	100266127		2203	4300	6503			126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100266127C>G	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100266127C>G						ADH1C_ENST00000515683.1_RNA				P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	633	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																						0.577	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		6	73	0	0	0	1	0	6	73					G	100266127	C	G	100266127	1	3	418	0	1	0	0	0	0	0	0	0	309	581	21	4		4	ADH1C	4	100266127	RNA	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	27096426	100266127	90888149	12	36117											
NKD2	85409	broad.mit.edu	37	chr5	1034967	1034967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgtgtgaagctaaccGtcagccctgagccctccagc	9	18	1	2	rs199906392		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:1034967G>A	ENST00000296849.5	+	7	752	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	NKD2_ENST00000274150.4_Missense_Mutation_p.V175I|NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000537972.1_Missense_Mutation_p.V175I	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	175	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				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)	p.V175I(1)		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)			GAAGCTAACCGTCAGCCCTGA	0.617																																						ENST00000296849.5																			1	Substitution - Missense(1)	p.V175I(1)	central_nervous_system(1)	breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(523-525)Gtc>Atc		naked cuticle homolog 2 (Drosophila)		G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	63	48	53		523	4.3	1	5		53	1,8585	1.2+/-3.3	0,1,4292	yes	missense	NKD2	NM_033120.2	29	0,2,6492	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	175/452	1034967	2,12986	2201	4293	6494	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1034967G>A	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.523G>A	5.37:g.1034967G>A	ENSP00000296849:p.Val175Ile					NKD2_ENST00000274150.4_Missense_Mutation_p.V175I|NKD2_ENST00000537972.1_Missense_Mutation_p.V175I	p.V175I	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		7	752	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		175			Interaction with DVL1, DVL2 and DVL3 (By similarity).		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.523G>A	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332333	0.60853	2.27E-4	1.16E-4	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.72615	0.17;-0.67;-0.67	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000004	T	0.79707	0.4492	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61070	0.836;0.883	T	0.81722	-0.0803	10	0.59425	D	0.04	-0.2434	12.1862	0.54241	0.0:0.0:1.0:0.0	.	175;175	Q969F2-2;Q969F2	.;NKD2_HUMAN	I	175	ENSP00000296849:V175I;ENSP00000274150:V175I;ENSP00000440925:V175I	ENSP00000274150:V175I	V	+	1	0	NKD2	1087967	1.000000	0.71417	0.995000	0.50966	0.022000	0.10575	5.914000	0.69964	1.922000	0.55676	0.561000	0.74099	GTC		0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		7	24	0	0	0	1	0	7	24					A	1034967	G	A	1034967	3	1	418	1	0	0	0	0	1	0	0	0	10442	1145	40	1	549	1	NKD2	5	1034967	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		1034967	179880293	13	36118											
NNT	23530	broad.mit.edu	37	chr5	43649290	43649290	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgggcattgcggctcccaatCtagccttttctcagatggtg	11	11	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:43649290C>G	ENST00000264663.5	+	11	1707	c.1486C>G	c.(1486-1488)Cta>Gta	p.L496V	NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	496					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGCTCCCAATCTAGCCTTTTC	0.498																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1486-1488)Cta>Gta		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						352	326	335					5																	43649290		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43649290C>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1486C>G	5.37:g.43649290C>G	ENSP00000264663:p.Leu496Val					NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V	p.L496V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			11	1707	+	Lung NSC(6;2.58e-06)		496					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1486C>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721272	0.15372	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95518	-3.73;-3.73;-3.61	5.24	0.104	0.14531	.	0.738609	0.13255	N	0.401774	D	0.86802	0.6020	N	0.19112	0.55	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.73335	-0.4015	10	0.15066	T	0.55	0.0117	3.1538	0.06497	0.1206:0.0925:0.3677:0.4192	.	496	Q13423	NNTM_HUMAN	V	496;496;365	ENSP00000264663:L496V;ENSP00000343873:L496V;ENSP00000426343:L365V	ENSP00000264663:L496V	L	+	1	2	NNT	43685047	0.068000	0.21057	0.997000	0.53966	0.970000	0.65996	0.972000	0.29409	0.075000	0.16796	0.644000	0.83932	CTA		0.498	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		109	167	0	0	0	1	0	109	167					G	43649290	C	G	43649290	3	3	418	1	0	0	0	0	1	0	0	0	10510	912	32	4	1524	4	NNT	5	43649290	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	42614323	43649290	137265970	14	36119											
PKHD1	5314	broad.mit.edu	37	chr6	51512879	51512879	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggaagctgaaattgtccatGgctctgaaggaggtcccagg	15	8	1	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:51512879G>C	ENST00000371117.3	-	63	11623	c.11348C>G	c.(11347-11349)cCa>cGa	p.P3783R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3783			P -> S (in ARPKD). {ECO:0000269|PubMed:12874454}.		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)					AATTGTCCATGGCTCTGAAGG	0.423																																						ENST00000371117.3																			0				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						c.(11347-11349)cCa>cGa		polycystic kidney and hepatic disease 1 (autosomal recessive)							119	121	120					6																	51512879		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51512879G>C	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.11348C>G	6.37:g.51512879G>C	ENSP00000360158:p.Pro3783Arg						p.P3783R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			63	11623	-	Lung NSC(77;0.0605)		3783		P -> S (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11348C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081862	0.76528	.	.	ENSG00000170927	ENST00000371117	D	0.89810	-2.57	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	D	0.92156	0.7513	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	D	0.92927	0.6360	10	0.87932	D	0	.	17.635	0.88119	0.0:0.0:1.0:0.0	.	3783	P08F94	PKHD1_HUMAN	R	3783	ENSP00000360158:P3783R	ENSP00000360158:P3783R	P	-	2	0	PKHD1	51620838	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	5.253000	0.65452	2.492000	0.84095	0.650000	0.86243	CCA		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	60	0	0	0	1	0	27	60					C	51512879	G	C	51512879	3	2	418	1	0	0	0	0	1	0	0	0	11971	1348	47	4	896	4	PKHD1	6	51512879	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		51512879	119602188	15	36120											
HBS1L	10767	broad.mit.edu	37	chr6	135314939	135314939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaatgaagtccttatggCctggagcatccattaatgta	10	7	0	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:135314939C>T	ENST00000367837.5	-	8	1246	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	347	G3. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCCTTATGGCCTGGAGCATC	0.368																																						ENST00000367837.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(1039-1041)gGc>gAc		HBS1-like (S. cerevisiae)							152	135	141					6																	135314939		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135314939C>T	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1040G>A	6.37:g.135314939C>T	ENSP00000356811:p.Gly347Asp					HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D|HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D	p.G347D	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	8	1246	-	Colorectal(23;0.221)		347					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1040G>A	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152411	0.94645	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641	D;D;D;D;D;D;D;D	0.95482	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-3.72	6.17	5.3	0.74995	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.99498	4.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98871	1.0766	10	0.87932	D	0	-8.4919	15.9972	0.80260	0.0:0.935:0.0:0.065	.	305;347	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	D	347;183;282;305;183;217;71;183	ENSP00000356811:G347D;ENSP00000436256:G183D;ENSP00000389826:G282D;ENSP00000356800:G305D;ENSP00000356798:G183D;ENSP00000434533:G217D;ENSP00000415305:G71D;ENSP00000436620:G183D	ENSP00000356798:G183D	G	-	2	0	HBS1L	135356632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGC		0.368	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			3	23	0	0	0	1	0	3	23					T	135314939	C	T	135314939	3	4	418	1	0	0	0	0	1	0	0	0	6987	739	26	2	1058	2	HBS1L	6	135314939	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	83802060	135314939	35800128	16	36121											
PMS2	5395	broad.mit.edu	37	chr7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttctccaggacaaatcTttgccctaaacttcctgtaa	5	11	2	0	rs267608167		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					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)		AGGACAAATCTTTGCCCTAAA	0.328			"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																													ENST00000265849.7			yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	"Mis, N, F"	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"colorectal, endometrial, ovarian, medulloblastoma, glioma"			0				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						c.(1951-1953)aAg>aGg	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							89	86	87					7																	6026444		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	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	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026444T>C		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.1952A>G	7.37:g.6026444T>C	ENSP00000265849:p.Lys651Arg					PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000469652.1_Intron	p.K651R	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	2057	-		Ovarian(82;0.0694)	651					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1952A>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	13.77	2.335511	0.41398	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476	T;T	0.40225	1.04;1.04	5.82	0.829	0.18847	.	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.77103	2.36	0.47476	D	0.999431	B;B	0.33583	0.021;0.418	B;B	0.40982	0.019;0.345	T	0.30909	-0.9962	10	0.35671	T	0.21	-19.6292	9.5139	0.39093	0.0:0.2623:0.0:0.7377	rs63751461	651;545	P54278;C9J167	PMS2_HUMAN;.	R	651;604;545	ENSP00000265849:K651R;ENSP00000392843:K545R	ENSP00000265849:K651R	K	-	2	0	PMS2	5992970	1.000000	0.71417	0.842000	0.33263	0.835000	0.47333	2.986000	0.49370	-0.068000	0.12953	-0.369000	0.07265	AAG		0.328	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		4	96	0	0	0	1	0	4	96					C	6026444	T	C	6026444	3	2	418	1	0	0	0	0	1	0	0	0	12143	1609	56	3	656	3	PMS2	7	6026444	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08		6026444	153112219	17	36122											
KCND2	3751	broad.mit.edu	37	chr7	119915148	119915148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggacgacgcggatacCgacaccgctggggagagcgc	16	13	0	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:119915148C>T	ENST00000331113.4	+	1	1427	c.462C>T	c.(460-462)acC>acT	p.T154T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	154					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACGCGGATACCGACACCGCTG	0.622																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(460-462)acC>acT		potassium voltage-gated channel, Shal-related subfamily, member 2							73	75	74					7																	119915148		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915148C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.462C>T	7.37:g.119915148C>T							p.T154T	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1427	+	all_neural(327;0.117)		154					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.462C>T	CCDS5776.1																																																																																				0.622	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		6	101	0	0	0	1	0	6	101					T	119915148	C	T	119915148	2	4	418	1	0	0	0	0	0	0	0	1	8019	639	23	1		1	KCND2	7	119915148	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	113888704	119915148	39223515	18	36123											
CD72	971	broad.mit.edu	37	chr9	35618218	35618218	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaggcctcatcccccttaCcctgtcctaaccggctggag	11	16	1	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:35618218C>A	ENST00000396757.1	-	2	247		c.e2+1		CD72_ENST00000378430.3_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000259633.4_Splice_Site			P21854	CD72_HUMAN	CD72 molecule						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)			ATCCCCCTTACCCTGTCCTAA	0.567																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.e2+1		CD72 molecule							116	97	104					9																	35618218		2203	4300	6503	SO:0001630	splice_region_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35618218C>A		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.82+1G>T	9.37:g.35618218C>A						CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000259633.4_Splice_Site|CD72_ENST00000378430.3_Splice_Site				P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	247	-									Splice_Site	SNP	ENST00000396757.1	37		CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282782	0.59867	.	.	ENSG00000137101	ENST00000396757;ENST00000259633;ENST00000378431;ENST00000378430	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0027	0.71486	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD72	35608218	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.979000	0.56888	2.612000	0.88384	0.655000	0.94253	.		0.567	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	Intron	26	35	1	0	3.65163e-15	1	3.82832e-15	26	35					A	35618218	C	A	35618218	5	1	418	1	0	0	0	0	0	0	1	0	3034	521	18	4	1028	4	CD72	9	35618218	Splice_Site	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		35618218	105595213	19	36124											
MAMDC4	158056	broad.mit.edu	37	chr9	139752161	139752161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcactaccccggggccagAcggcctccctgacctccaag	10	19	0	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:139752161A>G	ENST00000317446.2	+	19	2427	c.2377A>G	c.(2377-2379)Acg>Gcg	p.T793A	MAMDC4_ENST00000445819.1_Missense_Mutation_p.T872A|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCGGGGCCAGACGGCCTCCCT	0.677																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2614-2616)Acg>Gcg		MAM domain containing 4							28	30	30					9																	139752161		2196	4296	6492	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139752161A>G	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2377A>G	9.37:g.139752161A>G	ENSP00000319388:p.Thr793Ala					MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T793A	p.T872A			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	21	2664	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	872			MAM 5.			Missense_Mutation	SNP	ENST00000317446.2	37	c.2614A>G	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.006|0.006	-2.087146|-2.087146	0.00367|0.00367	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02197	.|4.4;4.4	4.23|4.23	-1.22|-1.22	0.09494|0.09494	.|Concanavalin A-like lectin/glucanase (1);MAM domain (3);	.|2.923980	.|0.01208	.|N	.|0.007779	T|T	0.02267|0.02267	0.0070|0.0070	L|L	0.39245|0.39245	1.2|1.2	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19445	.|0.036;0.002	.|B;B	.|0.13407	.|0.009;0.002	T|T	0.46748|0.46748	-0.9169|-0.9169	5|10	.|0.08179	.|T	.|0.78	-0.0791|-0.0791	5.0337|5.0337	0.14423|0.14423	0.4394:0.0:0.4249:0.1357|0.4394:0.0:0.4249:0.1357	.|.	.|872;793	.|Q6UXC1;Q6UXC1-2	.|AEGP_HUMAN;.	G|A	857|793;872	.|ENSP00000319388:T793A;ENSP00000411339:T872A	.|ENSP00000319388:T793A	D|T	+|+	2|1	0|0	MAMDC4|MAMDC4	138871982|138871982	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.008000|0.008000	0.06430|0.06430	-0.267000|-0.267000	0.08619|0.08619	-0.207000|-0.207000	0.10187|0.10187	-0.415000|-0.415000	0.06103|0.06103	GAC|ACG		0.677	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	21	0	0	0	1	0	3	21					G	139752161	A	G	139752161	3	3	418	1	0	0	0	0	1	0	0	0	9204	275	10	3	2451	3	MAMDC4	9	139752161	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	104133943	139752161	1461270	20	36125											
DCHS1	8642	broad.mit.edu	37	chr11	6650970	6650970	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggttgttctcacgcaagagGacgctgtactcctgctgctg	13	11	1	1	rs144759454		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:6650970G>A	ENST00000299441.3	-	11	5379	c.4968C>T	c.(4966-4968)gtC>gtT	p.V1656V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1656	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)		CACGCAAGAGGACGCTGTACT	0.632																																						ENST00000299441.3																			0				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						c.(4966-4968)gtC>gtT		dachsous cadherin-related 1		G		1,4401	2.1+/-5.4	0,1,2200	40	40	40		4968	2.4	1	11	dbSNP_134	40	0,8592		0,0,4296	no	coding-synonymous	DCHS1	NM_003737.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1656/3299	6650970	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650970G>A	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.4968C>T	11.37:g.6650970G>A							p.V1656V	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5379	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1656			Cadherin 16.		O15098	Silent	SNP	ENST00000299441.3	37	c.4968C>T	CCDS7771.1																																																																																				0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		11	20	0	0	0	1	0	11	20					A	6650970	G	A	6650970	2	1	418	1	0	0	0	0	0	0	0	1	4287	1161	41	2		2	DCHS1	11	6650970	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		6650970	128355546	21	36126											
CTR9	9646	broad.mit.edu	37	chr11	10789666	10789666	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccatctacaaacaagtaCtcagaaatgatgcaaagaat	7	8	2	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:10789666C>G	ENST00000361367.2	+	15	2344	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	640					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|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)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAACAAGTACTCAGAAATGA	0.363																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1918-1920)Ctc>Gtc		CTR9, Paf1/RNA polymerase II complex component							99	104	102					11																	10789666		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10789666C>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1918C>G	11.37:g.10789666C>G	ENSP00000355013:p.Leu640Val						p.L640V	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	2344	+			640					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1918C>G	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711414	0.89112	.	.	ENSG00000198730	ENST00000361367	T	0.76839	-1.05	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.91510	3.215	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	D	0.91872	0.5508	10	0.72032	D	0.01	-8.3928	19.8652	0.96802	0.0:1.0:0.0:0.0	.	640	Q6PD62	CTR9_HUMAN	V	640	ENSP00000355013:L640V	ENSP00000355013:L640V	L	+	1	0	CTR9	10746242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.705000	0.92388	0.591000	0.81541	CTC		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		31	40	0	0	0	1	0	31	40					G	10789666	C	G	10789666	3	3	418	1	0	0	0	0	1	0	0	0	4024	565	20	4	1976	4	CTR9	11	10789666	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	4138696	10789666	124216850	22	36127											
MRGPRD	116512	broad.mit.edu	37	chr11	68747597	68747597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggacctggtgggcaGcctgtggctcctccggctgc	15	16	0	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:68747597G>A	ENST00000309106.3	-	1	858	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	287						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGGTGGGCAGCCTGTGGCTC	0.662																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(859-861)Ctg>Ttg		MAS-related GPR, member D							24	32	29					11																	68747597		2172	4247	6419	SO:0001819	synonymous_variant	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68747597G>A	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"GPCR / Class A : Orphans"	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.859C>T	11.37:g.68747597G>A							p.L287L	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	858	-			287					Q8NGK7	Silent	SNP	ENST00000309106.3	37	c.859C>T	CCDS31625.1																																																																																				0.662	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		16	76	0	0	0	1	0	16	76					A	68747597	G	A	68747597	2	1	418	1	0	0	0	0	0	0	0	1	9763	962	34	2		2	MRGPRD	11	68747597	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	57957931	68747597	66258919	23	36128											
GRIA4	2893	broad.mit.edu	37	chr11	105845182	105845182	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgaaggtggcaaagaGtgcacagacttttaacccaa	11	7	0	4			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:105845182G>C	ENST00000530497.1	+	15	2544				GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_Missense_Mutation_p.S852T|GRIA4_ENST00000282499.5_Intron|RNU6-277P_ENST00000516272.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						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)|vesicle (GO:0031982)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTGGCAAAGAGTGCACAGACT	0.438																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2554-2556)aGt>aCt		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						140	130	133					11																	105845182		2201	4299	6500	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845182G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2544+11G>C	11.37:g.105845182G>C						GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_Intron	p.S852T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	3001	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	852					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2555G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010086	0.35415	.	.	ENSG00000152578	ENST00000393127;ENST00000525187	T;T	0.12255	2.7;2.7	5.83	5.83	0.93111	.	.	.	.	.	T	0.09992	0.0245	N	0.20685	0.6	0.32742	N	0.507561	B	0.32939	0.391	B	0.31946	0.138	T	0.05037	-1.0910	9	0.02654	T	1	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	852	G3V164	.	T	852	ENSP00000376835:S852T;ENSP00000432180:S852T	ENSP00000376835:S852T	S	+	2	0	GRIA4	105350392	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.471000	0.35365	2.756000	0.94617	0.655000	0.94253	AGT		0.438	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	79	0	0	0	1	0	4	79					C	105845182	G	C	105845182	1	2	418	0	1	0	0	0	0	0	0	0	6770	1029	36	4		4	GRIA4	11	105845182	Intron	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	37097585	105845182	29161334	24	36129											
ST14	6768	broad.mit.edu	37	chr11	130079712	130079712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcaaagagaacactggGgtataggggccggggccacc	16	9	1	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:130079712G>A	ENST00000278742.5	+	19	2980	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	854	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)	AGAACACTGGGGTATAGGGGC	0.637																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(2560-2562)ggG>ggA		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						69	77	74					11																	130079712		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130079712G>A	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.2562G>A	11.37:g.130079712G>A							p.G854G	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	19	2980	+	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)	854			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.2562G>A	CCDS8487.1																																																																																				0.637	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			5	108	0	0	0	1	0	5	108					A	130079712	G	A	130079712	2	1	418	1	0	0	0	0	0	0	0	1	15210	1219	43	2		2	ST14	11	130079712	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	24234530	130079712	4926804	25	36130											
HOXC4	3221	broad.mit.edu	37	chr12	54447975	54447975	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggcgggccaccaccAccccgagaaatcacagtcgc	11	18	1	1	rs562717137	byFrequency	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr12:54447975A>C	ENST00000430889.2	+	1	315	c.269A>C	c.(268-270)cAc>cCc	p.H90P	HOXC4_ENST00000609810.1_Missense_Mutation_p.H90P|HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	90					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)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGCCACCACCACCCCGAGAAA	0.736													A|||	31	0.0061901	0.0038	0.0086	5008	,	,		8770	0.006		0.0099	False		,,,				2504	0.0041					ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(268-270)cAc>cCc		homeobox C4							18	24	22					12																	54447975		2193	4284	6477	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447975A>C		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.269A>C	12.37:g.54447975A>C	ENSP00000399808:p.His90Pro					HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P	p.H90P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			1	315	+			90						Missense_Mutation	SNP	ENST00000430889.2	37	c.269A>C	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	A	8.328	0.825775	0.16749	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.78481	-1.18;-1.18	3.95	3.95	0.45737	.	0.695563	0.13752	N	0.365204	T	0.56746	0.2006	N	0.17474	0.49	0.31248	N	0.69439	B	0.32829	0.386	B	0.20384	0.029	T	0.57723	-0.7762	10	0.25106	T	0.35	.	8.3095	0.32062	0.8229:0.0:0.0:0.1771	.	90	P09017	HXC4_HUMAN	P	90	ENSP00000305973:H90P;ENSP00000399808:H90P	ENSP00000305973:H90P	H	+	2	0	HOXC4	52734242	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.337000	0.52120	1.775000	0.52247	0.379000	0.24179	CAC		0.736	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			7	44	0	0	0	1	0	7	44					C	54447975	A	C	54447975	3	2	418	1	0	0	0	0	1	0	0	0	7313	159	6	5	271	5	HOXC4	12	54447975	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		54447975	79403920	26	36131											
BRCA2	675	broad.mit.edu	37	chr13	32912670	32912670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaacttttttggaagttgCgaaagctcaagaagcatgtc	9	6	1	1	rs398122776		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:32912670C>T	ENST00000380152.3	+	11	4411	c.4178C>T	c.(4177-4179)gCg>gTg	p.A1393V	BRCA2_ENST00000544455.1_Missense_Mutation_p.A1393V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1393	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|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)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTGGAAGTTGCGAAAGCTCAA	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4177-4179)gCg>gTg	Homologous recombination	breast cancer 2, early onset							64	68	66					13																	32912670		2202	4299	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912670C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4178C>T	13.37:g.32912670C>T	ENSP00000369497:p.Ala1393Val	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.A1393V	p.A1393V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4405	+		Lung SC(185;0.0262)	1393					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4178C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.587305	0.00872	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00653	5.96;5.96	5.95	5.95	0.96441	.	0.298737	0.28853	N	0.013924	T	0.00328	0.0010	N	0.01352	-0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42783	-0.9431	10	0.02654	T	1	.	8.8471	0.35177	0.0:0.1446:0.0:0.8554	.	1393	P51587	BRCA2_HUMAN	V	1393	ENSP00000369497:A1393V;ENSP00000439902:A1393V	ENSP00000369497:A1393V	A	+	2	0	BRCA2	31810670	0.887000	0.30362	0.987000	0.45799	0.087000	0.18053	0.809000	0.27168	1.075000	0.40932	-0.360000	0.07572	GCG		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		25	37	0	0	0	1	0	25	37					T	32912670	C	T	32912670	3	4	418	1	0	0	0	0	1	0	0	0	1499	768	27	1	4216	1	BRCA2	13	32912670	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		32912670	82257208	27	36132											
GPC6	10082	broad.mit.edu	37	chr13	93879733	93879733	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcttggatcggggctgtGattcttcccctcttggggct	12	12	3	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:93879733G>T	ENST00000377047.4	+	1	639	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	8					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCGGGGCTGTGATTCTTCCCC	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(22-24)gtG>gtT		glypican 6							123	124	123					13																	93879733		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93879733G>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.24G>T	13.37:g.93879733G>T			OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1301		p.V8V	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			1	639	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	8					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.24G>T	CCDS9469.1																																																																																				0.642	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		12	88	1	0	0.0167234	1	0.0169847	12	88					T	93879733	G	T	93879733	2	4	418	1	0	0	0	0	0	0	0	1	6602	1277	45	4		4	GPC6	13	93879733	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	60967063	93879733	21290145	28	36133											
C14orf4	64207	broad.mit.edu	37	chr14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-													ggctgcgctgttccaccgcaGcggcggcggcggcggcggcg					rs371633333		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				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						TTCCACCgcagcggcggcggcgg	0.749																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(484-489)gct>gc		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493648_77493650delGCG	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.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del						p.AA162del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1384_1386	-			162			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.486_488delCGC	CCDS9854.1																																																																																				0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		8	8						8	8	---	---	---	---	-	77493650	GCG	-	77493648	7	5	418	1	0	1	0	1	0	0	0	0	1773	971	34	0	1906	0	C14orf4	14	77493648	In_Frame_Del	DEL	GCG	TCGA-S9-A6TZ-01A-21D-A32B-08		77493648	29855892	29	36134											
POMT2	29954	broad.mit.edu	37	chr14	77765887	77765887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggacacgagcagtcagGtgttttcccacagtcacctg	10	13	2	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr14:77765887G>A	ENST00000261534.4	-	7	1036	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	278						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAGCAGTCAGGTGTTTTCCCA	0.498																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(832-834)caC>caT		protein-O-mannosyltransferase 2							126	102	110					14																	77765887		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77765887G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.834C>T	14.37:g.77765887G>A							p.H278H	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	7	1036	-			278					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.834C>T	CCDS9857.1																																																																																				0.498	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		9	62	0	0	0	1	0	9	62					A	77765887	G	A	77765887	2	1	418	1	0	0	0	0	0	0	0	1	12246	1252	44	2		2	POMT2	14	77765887	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	272239	77765887	29583653	30	36135											
TCF12	6938	broad.mit.edu	37	chr15	57523394	57523394	+	Frame_Shift_Del	DEL	T	T	-													gatgatttcaaccgtgaatcTcctagttatccatctcctaa							TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr15:57523394delT	ENST00000267811.5	+	9	928	c.624delT	c.(622-624)tctfs	p.S208fs	TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	208					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACCGTGAATCTCCTAGTTATC	0.353			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(622-624)tcfs		transcription factor 12							171	155	160					15																	57523394		2192	4292	6484	SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57523394delT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.624delT	15.37:g.57523394delT	ENSP00000267811:p.Ser208fs					TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs	p.S208fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	928	+		Colorectal(260;0.0907)	208					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.624delT	CCDS10159.1																																																																																				0.353	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		45	106						45	106	---	---	---	---	-	57523394	T	-	57523394	7	5	418	1	0	1	0	1	0	0	0	0	15684	1538	54	0	727	0	TCF12	15	57523394	Frame_Shift_Del	DEL	T	TCGA-S9-A6TZ-01A-21D-A32B-08		57523394	45007998	31	36136											
ZP2	7783	broad.mit.edu	37	chr16	21212828	21212828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaattggttggcggaggAatctcactagagggtactcg	14	6	1	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr16:21212828A>G	ENST00000574002.1	-	15	2038	c.1556T>C	c.(1555-1557)tTc>tCc	p.F519S	ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.F510S			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	519	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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)		TTGGCGGAGGAATCTCACTAG	0.448																																						ENST00000574002.1																			0				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						c.(1555-1557)tTc>tCc		zona pellucida glycoprotein 2 (sperm receptor)							218	196	203					16																	21212828		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21212828A>G	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.1556T>C	16.37:g.21212828A>G	ENSP00000460971:p.Phe519Ser					ZP2_ENST00000574091.1_Missense_Mutation_p.F510S|ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA	p.F519S			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	15	2038	-			519			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1556T>C	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.346634	0.24426	.	.	ENSG00000103310	ENST00000219593	T	0.81163	-1.46	5.0	2.26	0.28386	Zona pellucida sperm-binding protein (3);	0.449453	0.21227	N	0.078056	T	0.77805	0.4185	L	0.55481	1.735	0.23192	N	0.99815	B;B	0.30146	0.27;0.052	B;B	0.41135	0.348;0.115	T	0.70346	-0.4897	10	0.62326	D	0.03	-8.6085	5.9798	0.19401	0.3668:0.0:0.1188:0.5144	.	510;519	Q4VAP1;Q05996	.;ZP2_HUMAN	S	519	ENSP00000219593:F519S	ENSP00000219593:F519S	F	-	2	0	ZP2	21120329	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	0.799000	0.27028	0.777000	0.33496	-0.468000	0.05107	TTC		0.448	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			6	117	0	0	0	1	0	6	117					G	21212828	A	G	21212828	3	3	418	1	0	0	0	0	1	0	0	0	18213	246	9	3	705	3	ZP2	16	21212828	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		21212828	69141925	32	36137											
POLR2A	5430	broad.mit.edu	37	chr17	7412932	7412932	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattcgcatcatgaacagcgAtgagaacaagatgcaagagg	11	7	1	4			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7412932A>T	ENST00000322644.6	+	22	4193	c.3794A>T	c.(3793-3795)gAt>gTt	p.D1265V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1265					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)				ATGAACAGCGATGAGAACAAG	0.458																																						ENST00000322644.6																			0				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						c.(3793-3795)gAt>gTt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							140	122	128					17																	7412932		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7412932A>T			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.3794A>T	17.37:g.7412932A>T	ENSP00000314949:p.Asp1265Val						p.D1265V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			22	4193	+		Prostate(122;0.173)	1265					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3794A>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.911890	0.72983	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.68025	-0.3	4.69	4.69	0.59074	RNA polymerase Rpb1, domain 5 (1);RNA polymerase Rpb1, domain 7 (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.86953	2.85	0.80722	D	1	P	0.47191	0.891	P	0.49887	0.625	T	0.82420	-0.0466	10	0.87932	D	0	-12.3166	13.3101	0.60376	1.0:0.0:0.0:0.0	.	1265	P24928	RPB1_HUMAN	V	1221;164;1265	ENSP00000314949:D1265V	ENSP00000314949:D1265V	D	+	2	0	SLC35G6	7353656	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.373000	0.90131	1.999000	0.58509	0.369000	0.22263	GAT		0.458	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		13	115	0	0	0	1	0	13	115					T	7412932	A	T	7412932	3	4	418	1	0	0	0	0	1	0	0	0	12214	333	12	5	3880	5	POLR2A	17	7412932	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		7412932	73782278	33	36138											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	35	0	0	0	1	0	5	35					A	7577539	G	A	7577539	3	1	418	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	164607	7577539	73617671	34	36139											
KSR1	8844	broad.mit.edu	37	chr17	25937180	25937180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacccccgggaaggacgaGgatcagctgccattctccaa	11	13	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:25937180G>A	ENST00000319524.6	+	18	2379	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	KSR1_ENST00000582410.1_Silent_p.E7E|KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000398988.3_Silent_p.E656E|KSR1_ENST00000509603.2_Silent_p.E771E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GGAAGGACGAGGATCAGCTGC	0.587											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1966-1968)gaG>gaA		kinase suppressor of ras 1							90	95	93					17																	25937180		2037	4187	6224	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25937180G>A	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.2379G>A	17.37:g.25937180G>A			OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	782	KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000319524.6_Silent_p.E793E|KSR1_ENST00000509603.2_Silent_p.E771E|KSR1_ENST00000582410.1_Silent_p.E7E	p.E656E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	19	2413	+	Lung NSC(42;0.00836)		791			Protein kinase.		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1968G>A		.	.	.	.	.	.	.	.	.	.	G	9.280	1.047791	0.19827	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.82	3.51	0.40186	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52726	-0.8537	4	.	.	.	.	7.0665	0.25156	0.3169:0.0:0.6831:0.0	.	.	.	.	R	507	.	.	G	+	1	0	KSR1	22961307	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.834000	0.39171	1.470000	0.48102	0.655000	0.94253	GGA		0.587	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		38	56	0	0	0	1	0	38	56					A	25937180	G	A	25937180	2	1	418	1	0	0	0	0	0	0	0	1	8581	991	35	2		2	KSR1	17	25937180	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	18359641	25937180	55258030	35	36140											
TMEM104	54868	broad.mit.edu	37	chr17	72832755	72832755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccttctgggtgggcttcGtgctgctctgggctttctcc	12	13	3	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:72832755G>A	ENST00000335464.5	+	10	1582	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	474						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)					GGTGGGCTTCGTGCTGCTCTG	0.592																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1420-1422)Gtg>Atg		transmembrane protein 104							62	51	55					17																	72832755		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832755G>A	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.1420G>A	17.37:g.72832755G>A	ENSP00000334849:p.Val474Met					TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M	p.V474M	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1582	+	all_lung(278;0.23)		474					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1420G>A	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710620	0.89112	.	.	ENSG00000109066	ENST00000335464	T	0.41065	1.01	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71652	-0.4528	10	0.59425	D	0.04	-20.3574	19.021	0.92916	0.0:0.0:1.0:0.0	.	474	Q8NE00	TM104_HUMAN	M	474	ENSP00000334849:V474M	ENSP00000334849:V474M	V	+	1	0	TMEM104	70344350	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.584000	0.87258	0.462000	0.41574	GTG		0.592	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		29	32	0	0	0	1	0	29	32					A	72832755	G	A	72832755	3	1	418	1	0	0	0	0	1	0	0	0	16015	1145	40	1	1454	1	TMEM104	17	72832755	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	46895575	72832755	8362455	36	36141											
CBX4	8535	broad.mit.edu	37	chr17	77808940	77808940	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtactgcaggtcgtacatTttggggtcgggctggtaggg	18	6	0	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:77808940T>A	ENST00000269397.4	-	5	678	c.501A>T	c.(499-501)aaA>aaT	p.K167N	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	167	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTCGTACATTTTGGGGTCGG	0.687											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(499-501)aaA>aaT		chromobox homolog 4							92	91	91					17																	77808940		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808940T>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.501A>T	17.37:g.77808940T>A	ENSP00000269397:p.Lys167Asn		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178	CBX4_ENST00000448310.1_3'UTR	p.K167N	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	678	-			167			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.501A>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	t	17.57	3.422044	0.62622	.	.	ENSG00000141582	ENST00000269397	.	.	.	4.16	-5.88	0.02290	.	0.409391	0.23378	U	0.048828	T	0.41719	0.1171	L	0.47716	1.5	0.80722	D	1	B	0.29862	0.259	B	0.25759	0.063	T	0.02751	-1.1115	9	0.45353	T	0.12	-29.363	11.5278	0.50591	0.0:0.6675:0.0:0.3325	.	167	O00257	CBX4_HUMAN	N	167	.	ENSP00000269397:K167N	K	-	3	2	CBX4	75423535	0.783000	0.28701	0.948000	0.38648	0.951000	0.60555	-0.138000	0.10374	-1.312000	0.02306	-0.775000	0.03384	AAA		0.687	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		4	107	0	0	0	1	0	4	107					A	77808940	T	A	77808940	3	1	418	1	0	0	0	0	1	0	0	0	2720	1838	64	5	1185	5	CBX4	17	77808940	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	4976185	77808940	3386270	37	36142											
ARHGAP33	115703	broad.mit.edu	37	chr19	36268615	36268615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctacccactgctgggggGcccagtgtgaaggggaagcc	15	13	1	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:36268615G>A	ENST00000007510.4	+	2	219	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	25					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCTGGGGGGCCCAGTGTGA	0.642																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(73-75)ggG>ggA		Rho GTPase activating protein 33							22	26	25					19																	36268615		2202	4299	6501	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36268615G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.75G>A	19.37:g.36268615G>A						ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000221905.1_3'UTR	p.G25G			O14559	RHG33_HUMAN			2	219	+			25					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.75G>A																																																																																					0.642	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		3	7	0	0	0	1	0	3	7					A	36268615	G	A	36268615	2	1	418	1	0	0	0	0	0	0	0	1	882	1190	42	2		2	ARHGAP33	19	36268615	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		36268615	22860368	38	36143											
RCN3	57333	broad.mit.edu	37	chr19	50031918	50031918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctttcctgggacgggaAgtggccaaggaattcgacca	15	9	0	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:50031918A>G	ENST00000270645.3	+	2	636	c.189A>G	c.(187-189)gaA>gaG	p.E63E	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	63						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		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;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGGACGGGAAGTGGCCAAGG	0.637																																						ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(187-189)gaA>gaG		reticulocalbin 3, EF-hand calcium binding domain							70	68	68					19																	50031918		2203	4300	6503	SO:0001819	synonymous_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031918A>G	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.189A>G	19.37:g.50031918A>G						RCN3_ENST00000593644.1_3'UTR	p.E63E	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	636	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	63					Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.189A>G	CCDS12771.1																																																																																				0.637	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		39	26	0	0	0	1	0	39	26					G	50031918	A	G	50031918	2	3	418	1	0	0	0	0	0	0	0	1	13181	69	3	3		3	RCN3	19	50031918	Silent	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	13763303	50031918	9097065	39	36144											
TCEA2	6919	broad.mit.edu	37	chr20	62701881	62701881	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggagatccgtaaggccAtgaccaaggaggccatccga	13	10	0	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr20:62701881A>T	ENST00000343484.5	+	8	881	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	TCEA2_ENST00000361317.2_Missense_Mutation_p.M211L|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	238	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCGTAAGGCCATGACCAAGGA	0.632																																						ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.(631-633)Atg>Ttg		transcription elongation factor A (SII), 2							58	58	58					20																	62701881		2203	4300	6503	SO:0001583	missense	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701881A>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.712A>T	20.37:g.62701881A>T	ENSP00000343515:p.Met238Leu					TCEA2_ENST00000343484.5_Missense_Mutation_p.M238L|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	p.M211L	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN			9	1073	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		238			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	c.631A>T	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	A	5.064	0.197520	0.09652	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	.	.	.	4.29	4.29	0.51040	Transcription elongation factor S-II, central domain (2);	0.054782	0.85682	D	0.000000	T	0.21550	0.0519	N	0.02334	-0.595	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.20538	-1.0272	9	0.02654	T	1	0.9001	9.985	0.41837	0.8297:0.1702:0.0:0.0	.	238;238;211	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	L	211;238;211;211;211	.	ENSP00000339432:M211L	M	+	1	0	TCEA2	62172325	0.915000	0.31059	1.000000	0.80357	0.986000	0.74619	1.291000	0.33330	1.720000	0.51447	0.374000	0.22700	ATG		0.632	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		24	40	0	0	0	1	0	24	40					T	62701881	A	T	62701881	3	4	418	1	0	0	0	0	1	0	0	0	15665	217	8	5	742	5	TCEA2	20	62701881	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		62701881	323639	40	36145											
SHROOM2	357	broad.mit.edu	37	chrX	9863274	9863274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccctctgtgctgacagCcttgggcaggagccaggggc	15	14	1	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:9863274C>A	ENST00000380913.3	+	4	1416	c.1326C>A	c.(1324-1326)agC>agA	p.S442R		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	442					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)				GTGCTGACAGCCTTGGGCAGG	0.652																																						ENST00000380913.3																			0				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						c.(1324-1326)agC>agA		shroom family member 2							39	40	40					X																	9863274		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863274C>A	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.1326C>A	X.37:g.9863274C>A	ENSP00000370299:p.Ser442Arg						p.S442R	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	1416	+		Hepatocellular(5;0.000888)	442					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1326C>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	9.059	0.994113	0.19043	.	.	ENSG00000146950	ENST00000380913	T	0.17213	2.29	4.17	0.216	0.15258	.	3.703340	0.00465	N	0.000107	T	0.13756	0.0333	L	0.39898	1.24	0.09310	N	0.999999	B	0.31519	0.327	B	0.23275	0.045	T	0.20306	-1.0279	10	0.49607	T	0.09	-1.1231	3.9702	0.09449	0.1708:0.5435:0.0:0.2857	.	442	Q13796	SHRM2_HUMAN	R	442	ENSP00000370299:S442R	ENSP00000370299:S442R	S	+	3	2	SHROOM2	9823274	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.389000	0.07342	0.133000	0.18654	-0.371000	0.07208	AGC		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	90	1	0	0.248553	1	0.248553	6	90					A	9863274	C	A	9863274	3	1	418	1	0	0	0	0	1	0	0	0	14294	738	26	4	1340	4	SHROOM2	23	9863274	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		9863274	145407286	41	36146											
ESX1	80712	broad.mit.edu	37	chrX	103495451	103495451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagcaggatccagagcagGagcagcataataggccccac	11	12	0	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:103495451G>A	ENST00000372588.4	-	4	762	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	227					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						TCCAGAGCAGGAGCAGCATAA	0.552																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(679-681)Cct>Tct		ESX homeobox 1							196	152	167					X																	103495451		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495451G>A	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.679C>T	X.37:g.103495451G>A	ENSP00000361669:p.Pro227Ser						p.P227S	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	762	-			227					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.679C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246167	0.39697	.	.	ENSG00000123576	ENST00000372588	T	0.70164	-0.46	4.64	2.69	0.31865	.	.	.	.	.	T	0.63283	0.2498	M	0.67397	2.05	0.09310	N	1	P	0.47841	0.901	P	0.44696	0.458	T	0.55224	-0.8174	9	0.45353	T	0.12	-4.0143	5.171	0.15110	0.2023:0.1701:0.6276:0.0	.	227	Q8N693	ESX1_HUMAN	S	227	ENSP00000361669:P227S	ENSP00000361669:P227S	P	-	1	0	ESX1	103382107	0.607000	0.26958	0.011000	0.14972	0.002000	0.02628	2.490000	0.45294	1.030000	0.39839	0.600000	0.82982	CCT		0.552	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		14	209	0	0	0	1	0	14	209					A	103495451	G	A	103495451	3	1	418	1	0	0	0	0	1	0	0	0	5263	1174	41	2	545	2	ESX1	23	103495451	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	93632177	103495451	51775109	42	36147											
CUL4B	8450	broad.mit.edu	37	chrX	119674329	119674329	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaagcagatatcaattAtatggtcaaccttatcttta	5	7	4	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:119674329A>T	ENST00000404115.3	-	13	1987	c.1586T>A	c.(1585-1587)aTa>aAa	p.I529K	CUL4B_ENST00000371322.5_Missense_Mutation_p.I511K|CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	529					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATATCAATTATATGGTCAAC	0.308																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1531-1533)aTa>aAa		cullin 4B							113	101	105					X																	119674329		2202	4294	6496	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674329A>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1586T>A	X.37:g.119674329A>T	ENSP00000384109:p.Ile529Lys					CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K|CUL4B_ENST00000404115.3_Missense_Mutation_p.I529K	p.I511K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1593	-			529					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1532T>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890754	0.52014	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.79653	-1.29;-1.29;-1.29	5.6	5.6	0.85130	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.088129	0.85682	D	0.000000	D	0.91811	0.7409	M	0.93678	3.445	0.80722	D	1	P;P;P	0.52692	0.47;0.955;0.945	P;D;D	0.69654	0.84;0.965;0.941	D	0.93612	0.6940	9	.	.	.	-16.3765	13.9192	0.63921	1.0:0.0:0.0:0.0	.	333;529;511	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	K	511;516;529	ENSP00000360373:I511K;ENSP00000338919:I516K;ENSP00000384109:I529K	.	I	-	2	0	CUL4B	119558357	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	9.259000	0.95561	1.884000	0.54569	0.430000	0.28490	ATA		0.308	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		4	64	0	0	0	1	0	4	64					T	119674329	A	T	119674329	3	4	418	1	0	0	0	0	1	0	0	0	4058	449	16	5	1195	5	CUL4B	23	119674329	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	16178878	119674329	35596231	43	36148											
CT47B1	643311	broad.mit.edu	37	chrX	120009261	120009261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcctccgtcgcgggCccgatatctgagtcctcctc	8	18	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:120009261C>T	ENST00000371311.3	-	1	518	c.264G>A	c.(262-264)ggG>ggA	p.G88G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	88										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ccGTCGCGGGCCCGATATCTG	0.721																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(262-264)ggG>ggA		cancer/testis antigen family 47, member B1							30	35	34					X																	120009261		692	1590	2282	SO:0001819	synonymous_variant	643311							g.chrX:120009261C>T		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.264G>A	X.37:g.120009261C>T							p.G88G	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	518	-			88					A6NM97	Silent	SNP	ENST00000371311.3	37	c.264G>A	CCDS48161.1																																																																																				0.721	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		10	20	0	0	0	1	0	10	20					T	120009261	C	T	120009261	2	4	418	1	0	0	0	0	0	0	0	1	3989	726	26	2		2	CT47B1	23	120009261	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	334932	120009261	35261299	44	36149											
RAP2C	57826	broad.mit.edu	37	chrX	131348314	131348314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatttactttttgccgatGtctccatgaaaggacagccc	8	10	1	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:131348314G>A	ENST00000342983.2	-	3	1180	c.434C>T	c.(433-435)aCa>aTa	p.T145I	RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	145					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)					TTTTGCCGATGTCTCCATGAA	0.443																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(433-435)aCa>aTa		RAP2C, member of RAS oncogene family							153	125	134					X																	131348314		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348314G>A	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.434C>T	X.37:g.131348314G>A	ENSP00000340274:p.Thr145Ile					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I	p.T145I	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1180	-	Acute lymphoblastic leukemia(192;0.000127)		145					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.434C>T	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361592	0.82353	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.80653	-1.4;-1.4	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91660	0.7364	M	0.88181	2.935	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.93020	0.6439	10	0.87932	D	0	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	145	Q9Y3L5	RAP2C_HUMAN	I	145	ENSP00000340274:T145I;ENSP00000359911:T145I	ENSP00000340274:T145I	T	-	2	0	RAP2C	131175995	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.424000	0.97464	2.363000	0.80096	0.556000	0.70494	ACA		0.443	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		25	67	0	0	0	1	0	25	67					A	131348314	G	A	131348314	3	1	418	1	0	0	0	0	1	0	0	0	13042	1377	48	2	121	2	RAP2C	23	131348314	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	11339053	131348314	23922246	45	36150											
F9	2158	broad.mit.edu	37	chrX	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttaaaattacagttgtcGcaggtaaatacacagaaaga	9	5	0	2	rs137852247		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:138643011G>A	ENST00000218099.2	+	7	842	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_ENST00000394090.2_Missense_Mutation_p.A241T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> T (in HEMB; mild). {ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:8076946}.		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)	TACAGTTGTCGCAGGTAAATA	0.353																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940587	F9	M	rs137852247	c.(835-837)Gca>Aca		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						162	145	151					X																	138643011		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643011G>A	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.835G>A	X.37:g.138643011G>A	ENSP00000218099:p.Ala279Thr					F9_ENST00000394090.2_Missense_Mutation_p.A241T	p.A279T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			7	842	+	Acute lymphoblastic leukemia(192;0.000127)		279		A -> T (in HEMB; mild).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.835G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264663	0.59431	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.88896	-2.44;-2.44	5.84	5.84	0.93424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.106822	0.64402	D	0.000005	D	0.92961	0.7760	L	0.60455	1.87	0.47341	D	0.999392	D;D	0.71674	0.998;0.959	D;P	0.68353	0.957;0.633	D	0.93242	0.6627	10	0.62326	D	0.03	.	16.3112	0.82872	0.0:0.0:1.0:0.0	.	241;279	Q5FBE1;P00740	.;FA9_HUMAN	T	279;241	ENSP00000218099:A279T;ENSP00000377650:A241T	ENSP00000218099:A279T	A	+	1	0	F9	138470677	1.000000	0.71417	0.949000	0.38748	0.199000	0.23934	6.978000	0.76147	2.457000	0.83068	0.544000	0.68410	GCA		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			32	98	0	0	0	1	0	32	98					A	138643011	G	A	138643011	3	1	418	1	0	0	0	0	1	0	0	0	5351	1087	38	1	861	1	F9	23	138643011	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	7294697	138643011	16627549	46	36151											
MAGEA11	4110	broad.mit.edu	37	chrX	148797890	148797890	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcacaaaggcagaaatGctggggagtgtcatcaaaaa	11	7	3	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:148797890G>C	ENST00000355220.5	+	5	846	c.744G>C	c.(742-744)atG>atC	p.M248I	MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	248	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGCAGAAATGCTGGGGAGTG	0.413																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(742-744)atG>atC		melanoma antigen family A, 11							109	111	110					X																	148797890		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797890G>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.744G>C	X.37:g.148797890G>C	ENSP00000347358:p.Met248Ile					MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I	p.M248I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	846	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		248			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.744G>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.698	0.909106	0.17833	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04015	3.73;3.73;3.73	0.976	-1.76	0.08006	.	.	.	.	.	T	0.05640	0.0148	L	0.43646	1.37	0.09310	N	1	P;P	0.45634	0.863;0.65	B;P	0.45119	0.434;0.47	T	0.27468	-1.0073	9	0.48119	T	0.1	.	6.1746	0.20437	0.0:0.5924:0.4076:0.0	.	219;248	G5E962;P43364	.;MAGAB_HUMAN	I	219;219;248	ENSP00000391496:M219I;ENSP00000328177:M219I;ENSP00000347358:M248I	ENSP00000328177:M219I	M	+	3	0	MAGEA11	148576515	0.457000	0.25752	0.004000	0.12327	0.091000	0.18340	-0.117000	0.10708	-0.714000	0.04975	0.429000	0.28392	ATG		0.413	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		7	165	0	0	0	1	0	7	165					C	148797890	G	C	148797890	3	2	418	1	0	0	0	0	1	0	0	0	9165	1319	46	4	771	4	MAGEA11	23	148797890	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	10154879	148797890	6472670	47	36152											
HIVEP3	59269	broad.mit.edu	37	chr1	41990468	41990468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggacgtcagtgtgggtgCggatgtgtttcttcagcatg	16	8	3	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:41990468C>A	ENST00000372583.1	-	6	6206	c.5321G>T	c.(5320-5322)cGc>cTc	p.R1774L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1774	ZAS2.				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)				AGTGTGGGTGCGGATGTGTTT	0.537																																						ENST00000372584.1																			0				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						c.(5320-5322)cGc>cTc		human immunodeficiency virus type I enhancer binding protein 3							168	131	144					1																	41990468		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41990468C>A	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.5321G>T	1.37:g.41990468C>A	ENSP00000361664:p.Arg1774Leu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L	p.R1774L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			5	6335	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1774			ZAS2.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5321G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138589	0.94560	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000105	T	0.46483	0.1395	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.42882	-0.9425	10	0.87932	D	0	-19.5511	18.0873	0.89462	0.0:1.0:0.0:0.0	.	1774;1774	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1774	ENSP00000361665:R1774L;ENSP00000361664:R1774L;ENSP00000247584:R1774L;ENSP00000410828:R1774L	ENSP00000247584:R1774L	R	-	2	0	HIVEP3	41763055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.828000	0.69307	2.596000	0.87737	0.561000	0.74099	CGC		0.537	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		3	73	1	0	0.004672	1	0.004672	3	73					A	41990468	C	A	41990468	3	1	419	1	0	0	0	0	1	0	0	0	7188	768	27	4	1915	4	HIVEP3	1	41990468	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		41990468	207260153	1	36153											
PGLYRP4	57115	broad.mit.edu	37	chr1	153317834	153317834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgccttgcgagagaccGtggtggagacatctgtggga	15	10	1	2	rs200715095		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:153317834G>A	ENST00000359650.5	-	4	228	c.164C>T	c.(163-165)aCg>aTg	p.T55M	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.T51M|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	55					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)	p.T55M(1)		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)			GCGAGAGACCGTGGTGGAGAC	0.587																																						ENST00000368739.3																			1	Substitution - Missense(1)	p.T55M(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(151-153)aCg>aTg		peptidoglycan recognition protein 4							127	98	108					1																	153317834		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317834G>A	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.164C>T	1.37:g.153317834G>A	ENSP00000352672:p.Thr55Met					PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T55M	p.T51M			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	510	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		55					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.152C>T	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	0.539	-0.854573	0.02630	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04603	3.61;3.59	3.2	-1.57	0.08506	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (2);	.	.	.	.	T	0.00468	0.0015	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45848	-0.9233	9	0.24483	T	0.36	-17.5147	2.2658	0.04078	0.4913:0.0:0.2841:0.2246	.	51;55	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	M	51;55	ENSP00000357728:T51M;ENSP00000352672:T55M	ENSP00000352672:T55M	T	-	2	0	PGLYRP4	151584458	0.000000	0.05858	0.204000	0.23530	0.070000	0.16714	0.510000	0.22723	0.026000	0.15269	-0.657000	0.03884	ACG		0.587	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		22	55	0	0	0	1	0	22	55					A	153317834	G	A	153317834	3	1	419	1	0	0	0	0	1	0	0	0	11796	1145	40	1	981	1	PGLYRP4	1	153317834	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	111327366	153317834	95932787	2	36154											
SPTA1	6708	broad.mit.edu	37	chr1	158648254	158648254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctggagagccaaaccaCgaaggcgctcccaggcagca	12	14	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:158648254C>T	ENST00000368147.4	-	6	929	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	250					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R250H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAAACCACGAAGGCGCTC	0.438																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R250H(1)	prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(748-750)cGt>cAt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							101	94	96					1																	158648254		1873	4116	5989	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158648254C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.749G>A	1.37:g.158648254C>T	ENSP00000357129:p.Arg250His					SPTA1_ENST00000368147.3_Missense_Mutation_p.R250H	p.R250H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			6	929	-	all_hematologic(112;0.0378)		250					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.749G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133833	0.21123	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52526	0.66;0.66	4.66	0.629	0.17687	.	1.398420	0.05344	N	0.530647	T	0.08582	0.0213	N	0.05383	-0.06	0.24646	N	0.993547	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.25106	T	0.35	.	3.4954	0.07653	0.1633:0.2271:0.0:0.6095	.	250	P02549	SPTA1_HUMAN	H	250	ENSP00000357130:R250H;ENSP00000357129:R250H	ENSP00000357129:R250H	R	-	2	0	SPTA1	156914878	0.986000	0.35501	0.003000	0.11579	0.299000	0.27559	2.102000	0.41796	0.048000	0.15891	-0.300000	0.09419	CGT		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		17	46	0	0	0	1	0	17	46					T	158648254	C	T	158648254	3	4	419	1	0	0	0	0	1	0	0	0	15115	536	19	1	6698	1	SPTA1	1	158648254	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	5330420	158648254	90602367	3	36155											
RYR2	6262	broad.mit.edu	37	chr1	237947854	237947854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtgaaggacatggtcaCggccttcttttcatcctact	9	12	3	1	rs201829896		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:237947854C>T	ENST00000366574.2	+	90	13159	c.12842C>T	c.(12841-12843)aCg>aTg	p.T4281M	RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4281					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)			GACATGGTCACGGCCTTCTTT	0.458																																						ENST00000366574.2																			0				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						c.(12841-12843)aCg>aTg		ryanodine receptor 2 (cardiac)		C	MET/THR	4,3768		0,4,1882	77	75	75		12842	-0.4	0	1		75	0,8252		0,0,4126	yes	missense	RYR2	NM_001035.2	81	0,4,6008	TT,TC,CC		0.0,0.106,0.0333	benign	4281/4968	237947854	4,12020	1886	4126	6012	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947854C>T	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.12842C>T	1.37:g.237947854C>T	ENSP00000355533:p.Thr4281Met					RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M	p.T4281M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13159	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4281					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12842C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	6.567	0.472982	0.12461	0.00106	0.0	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96587	-4.06;-4.03;-4.05	5.11	-0.374	0.12512	.	0.740503	0.11596	N	0.548213	D	0.89536	0.6743	N	0.11756	0.17	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.13407	0.009;0.001	T	0.80643	-0.1291	10	0.41790	T	0.15	.	8.2903	0.31954	0.0:0.3438:0.0:0.6562	.	1255;4281	B4DGV4;Q92736	.;RYR2_HUMAN	M	4281;4287;4265;1255	ENSP00000355533:T4281M;ENSP00000353174:T4287M;ENSP00000443798:T4265M	ENSP00000353174:T4287M	T	+	2	0	RYR2	236014477	0.098000	0.21812	0.010000	0.14722	0.887000	0.51463	0.513000	0.22770	0.054000	0.16065	0.655000	0.94253	ACG		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	35	0	0	0	1	0	6	35					T	237947854	C	T	237947854	3	4	419	1	0	0	0	0	1	0	0	0	13769	536	19	1	13200	1	RYR2	1	237947854	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	79299600	237947854	11302767	4	36156											
C2orf78	388960	broad.mit.edu	37	chr2	74042529	74042529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacttcctgtagaaatcccCgatattcacccgcttctggc	6	15	2	1	rs143445466		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:74042529C>T	ENST00000409561.1	+	3	1300	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	393										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAGAAATCCCCGATATTCACC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19763	0.001		0.0	False		,,,				2504	0.0					ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1177-1179)ccC>ccT		chromosome 2 open reading frame 78							36	35	35					2																	74042529		1839	4089	5928	SO:0001819	synonymous_variant	388960							g.chr2:74042529C>T	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.1179C>T	2.37:g.74042529C>T							p.P393P	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			3	1300	+			393						Silent	SNP	ENST00000409561.1	37	c.1179C>T	CCDS46338.1																																																																																				0.448	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		7	33	0	0	0	1	0	7	33					T	74042529	C	T	74042529	2	4	419	1	0	0	0	0	0	0	0	1	2195	639	23	1		1	C2orf78	2	74042529	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		74042529	169156844	5	36157											
INSIG2	51141	broad.mit.edu	37	chr2	118854303	118854303	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcagagaaatgtgacgctCtttccacctgatgtgattgc	9	9	2	4	rs138954785		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:118854303C>T	ENST00000245787.4	+	2	377	c.171C>T	c.(169-171)ctC>ctT	p.L57L	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	57					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATGTGACGCTCTTTCCACCTG	0.413																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(169-171)ctC>ctT		insulin induced gene 2							176	161	166					2																	118854303		2203	4300	6503	SO:0001819	synonymous_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118854303C>T	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.171C>T	2.37:g.118854303C>T						INSIG2_ENST00000485520.1_Intron	p.L57L	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			2	377	+			57					A8K5W8|Q8TBI8	Silent	SNP	ENST00000245787.4	37	c.171C>T	CCDS2122.1																																																																																				0.413	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		4	99	0	0	0	1	0	4	99					T	118854303	C	T	118854303	2	4	419	1	0	0	0	0	0	0	0	1	7766	900	32	2		2	INSIG2	2	118854303	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	44811774	118854303	124345070	6	36158											
ZDBF2	57683	broad.mit.edu	37	chr2	207169615	207169615	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagagttacattccagaccTcataaatctcaggaaggcac	8	10	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:207169615T>A	ENST00000374423.3	+	5	749	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							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						ATTCCAGACCTCATAAATCTC	0.453																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(361-363)ccT>ccA		zinc finger, DBF-type containing 2							70	66	67					2																	207169615		1918	4123	6041	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207169615T>A	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.363T>A	2.37:g.207169615T>A							p.P121P	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	749	+			121					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.363T>A	CCDS46501.1																																																																																				0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		3	23	0	0	0	1	0	3	23					A	207169615	T	A	207169615	2	1	419	1	0	0	0	0	0	0	0	1	17596	1538	54	5		5	ZDBF2	2	207169615	Silent	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	88315312	207169615	36029758	7	36159											
PIK3CA	5290	broad.mit.edu	37	chr3	178947865	178947865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccttcattttgggaattGgagatcgtcacaatagtaac	8	8	2	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:178947865G>A	ENST00000263967.3	+	19	2897	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	914	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (in MCAP). {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)			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)	TTTGGGAATTGGAGATCGTCA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				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						c.(2740-2742)Gga>Aga		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							191	178	182					3																	178947865		1904	4128	6032	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178947865G>A		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.2740G>A	3.37:g.178947865G>A	ENSP00000263967:p.Gly914Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G914R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		19	2897	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		914			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2740G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199459	0.94997	.	.	ENSG00000121879	ENST00000263967	D	0.83755	-1.76	5.61	5.61	0.85477	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	L	0.56280	1.765	0.80722	D	1	D	0.54397	0.966	P	0.55999	0.789	D	0.88362	0.2988	10	0.72032	D	0.01	-16.7487	19.6363	0.95735	0.0:0.0:1.0:0.0	.	914	P42336	PK3CA_HUMAN	R	914	ENSP00000263967:G914R	ENSP00000263967:G914R	G	+	1	0	PIK3CA	180430559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.648000	0.89879	0.585000	0.79938	GGA		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			34	133	0	0	0	1	0	34	133					A	178947865	G	A	178947865	3	1	419	1	0	0	0	0	1	0	0	0	11913	1349	47	2	2810	2	PIK3CA	3	178947865	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		178947865	19074565	8	36160											
TP63	8626	broad.mit.edu	37	chr3	189586471	189586471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaagcagcaagtttcGgacagtacaaagaacggtga	11	7	1	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				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)		AGCAAGTTTCGGACAGTACAA	0.532										HNSCC(45;0.13)																												ENST00000264731.3																			0				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						c.(1093-1095)tcG>tcA		tumor protein p63							131	123	126					3																	189586471		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586471G>A	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.1095G>A	3.37:g.189586471G>A		HNSCC(45;0.13)				TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000392460.3_Silent_p.S365S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000320472.5_Silent_p.S365S	p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1184	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		365			Interaction with HIPK2.		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	Silent	SNP	ENST00000264731.3	37	c.1095G>A	CCDS3293.1																																																																																				0.532	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		16	59	0	0	0	1	0	16	59					A	189586471	G	A	189586471	2	1	419	1	0	0	0	0	0	0	0	1	16389	1103	39	1		1	TP63	3	189586471	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	10638606	189586471	8435959	9	36161											
SULT1B1	27284	broad.mit.edu	37	chr4	70620861	70620861	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaattttttcccagttgctTgcaaaagcacaggtcatggg	9	9	2	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:70620861T>C	ENST00000310613.3	-	2	372	c.75A>G	c.(73-75)gcA>gcG	p.A25A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	25					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						CCCAGTTGCTTGCAAAAGCAC	0.388																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(73-75)gcA>gcG		sulfotransferase family, cytosolic, 1B, member 1							144	140	142					4																	70620861		2203	4300	6503	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620861T>C	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.75A>G	4.37:g.70620861T>C							p.A25A	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			2	372	-			25					O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.75A>G	CCDS3530.1																																																																																				0.388	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		23	95	0	0	0	1	0	23	95					C	70620861	T	C	70620861	2	2	419	1	0	0	0	0	0	0	0	1	15373	1799	63	3		3	SULT1B1	4	70620861	Silent	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08		70620861	120533415	10	36162											
RCHY1	25898	broad.mit.edu	37	chr4	76419364	76419364	+	Frame_Shift_Del	DEL	G	G	-													taagttacatttcaaacaatGgaaaaaatcttcctttggac							TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:76419364delG	ENST00000324439.5	-	4	750	c.352delC	c.(352-354)catfs	p.H118fs	RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000514021.1_5'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	118					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAAACAATGGAAAAAATCT	0.279																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(352-354)atfs		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							49	49	49					4																	76419364		2201	4293	6494	SO:0001589	frameshift_variant	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76419364delG	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.352delC	4.37:g.76419364delG	ENSP00000321239:p.His118fs					RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000514021.1_5'UTR	p.H118fs	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		4	750	-			118					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Frame_Shift_Del	DEL	ENST00000324439.5	37	c.352delC	CCDS3567.1																																																																																				0.279	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		2	4						2	4	---	---	---	---	-	76419364	G	-	76419364	7	5	419	1	0	1	0	1	0	0	0	0	13177	1348	47	0	457	0	RCHY1	4	76419364	Frame_Shift_Del	DEL	G	TCGA-S9-A6U0-01A-12D-A32B-08	5798503	76419364	114734912	11	36163											
FRAS1	80144	broad.mit.edu	37	chr4	79432471	79432471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggaggttccatgtgcgttGtgtggccaaggctgtggaca	16	9	0	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:79432471G>T	ENST00000264895.6	+	64	10264	c.9824G>T	c.(9823-9825)tGt>tTt	p.C3275F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3271					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						CATGTGCGTTGTGTGGCCAAG	0.507																																						ENST00000264895.6																			0				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						c.(9823-9825)tGt>tTt		Fraser syndrome 1							129	130	130					4																	79432471		2108	4234	6342	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79432471G>T	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.9824G>T	4.37:g.79432471G>T	ENSP00000264895:p.Cys3275Phe						p.C3275F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			64	10264	+			3270					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.9824G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.156932|4.156932	0.78114|0.78114	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.33438|.	1.41|.	5.7|5.7	4.86|4.86	0.63082|0.63082	.|.	0.052982|.	0.85682|.	D|.	0.000000|.	T|T	0.77025|0.77025	0.4070|0.4070	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.971;0.999|.	T|T	0.79436|0.79436	-0.1804|-0.1804	10|5	0.87932|.	D|.	0|.	.|.	14.5308|14.5308	0.67923|0.67923	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	3274;3275|.	Q86XX4-2;E9PHH6|.	.;.|.	F|F	3275|1503	ENSP00000264895:C3275F|.	ENSP00000264895:C3275F|.	C|L	+|+	2|3	0|2	FRAS1|FRAS1	79651495|79651495	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.989000|0.989000	0.77384|0.77384	9.657000|9.657000	0.98554|0.98554	1.424000|1.424000	0.47217|0.47217	0.467000|0.467000	0.42956|0.42956	TGT|TTG		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	79	1	0	4.68919e-08	1	4.92365e-08	8	79					T	79432471	G	T	79432471	3	4	419	1	0	0	0	0	1	0	0	0	6042	1377	48	4	10153	4	FRAS1	4	79432471	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	3013107	79432471	111721805	12	36164											
FAM190A	401145	broad.mit.edu	37	chr4	91230726	91230726	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcatatttttaacaaaAcatcacatggatatgaagca	4	7	3	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:91230726A>G	ENST00000509176.1	+	2	1579	c.1291A>G	c.(1291-1293)Aca>Gca	p.T431A	CCSER1_ENST00000333691.8_Missense_Mutation_p.T431A|CCSER1_ENST00000432775.2_Missense_Mutation_p.T431A	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	431																	TTTTAACAAAACATCACATGG	0.299																																						ENST00000509176.1																			0											c.(1291-1293)Aca>Gca		coiled-coil serine-rich protein 1							51	50	50					4																	91230726		1829	4080	5909	SO:0001583	missense	401145							g.chr4:91230726A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1291A>G	4.37:g.91230726A>G	ENSP00000425040:p.Thr431Ala					CCSER1_ENST00000432775.2_Missense_Mutation_p.T431A|CCSER1_ENST00000333691.8_Missense_Mutation_p.T431A	p.T431A	NM_001145065.1	NP_001138537.1					2	1579	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1291A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	8.244	0.807493	0.16467	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.44482	1.46;0.92;1.46	4.96	0.0615	0.14341	.	0.667620	0.15627	N	0.252573	T	0.27900	0.0687	L	0.29908	0.895	0.24888	N	0.992181	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.12156	0.001;0.007;0.002	T	0.19484	-1.0304	10	0.35671	T	0.21	-5.0723	9.5223	0.39143	0.6362:0.0:0.3638:0.0	.	431;431;431	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	A	431	ENSP00000425040:T431A;ENSP00000389283:T431A;ENSP00000329482:T431A	ENSP00000329482:T431A	T	+	1	0	FAM190A	91449749	0.626000	0.27120	0.618000	0.29105	0.793000	0.44817	0.325000	0.19628	0.120000	0.18254	0.477000	0.44152	ACA		0.299	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		9	38	0	0	0	1	0	9	38					G	91230726	A	G	91230726	3	3	419	1	0	0	0	0	1	0	0	0	5521	43	2	3	1293	3	FAM190A	4	91230726	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08	11798255	91230726	99923550	13	36165											
ASB5	140458	broad.mit.edu	37	chr4	177142709	177142709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgccttgggagcatgCgttgaataacggagtcacgc	14	9	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:177142709C>T	ENST00000296525.3	-	4	540	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A90T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	143					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGGAGCATGCGTTGAATAAC	0.483																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(427-429)Gca>Aca		ankyrin repeat and SOCS box containing 5							121	110	113					4																	177142709		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142709C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.427G>A	4.37:g.177142709C>T	ENSP00000296525:p.Ala143Thr					ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.A90T	p.A143T	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	540	-		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)	143					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.427G>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672931	0.88445	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	D;D	0.81996	-1.56;-1.56	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	0.096155	0.64402	D	0.000001	D	0.90844	0.7124	M	0.91354	3.2	0.80722	D	1	D;D	0.71674	0.993;0.998	P;P	0.51701	0.529;0.677	D	0.92342	0.5882	10	0.72032	D	0.01	-21.3266	19.3249	0.94258	0.0:1.0:0.0:0.0	.	143;90	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	T	143;90	ENSP00000296525:A143T;ENSP00000422877:A90T	ENSP00000296525:A143T	A	-	1	0	ASB5	177379703	1.000000	0.71417	0.493000	0.27502	0.457000	0.32468	7.014000	0.76380	2.805000	0.96524	0.655000	0.94253	GCA		0.483	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			3	62	0	0	0	1	0	3	62					T	177142709	C	T	177142709	3	4	419	1	0	0	0	0	1	0	0	0	1026	768	27	1	578	1	ASB5	4	177142709	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	85911983	177142709	14011567	14	36166											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631621	101631621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggactttaccttgcgtgaCggccaagaggcagtagtgaa	13	9	0	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:101631621C>T	ENST00000310954.6	-	1	632	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTTGCGTGACGGCCAAGAGG	0.642																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(346-348)Gtc>Atc		solute carrier organic anion transporter family, member 4C1							41	41	41					5																	101631621		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101631621C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.346G>A	5.37:g.101631621C>T	ENSP00000309741:p.Val116Ile						p.V116I	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	1	632	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	116						Missense_Mutation	SNP	ENST00000310954.6	37	c.346G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782370	0.16189	.	.	ENSG00000173930	ENST00000310954	T	0.38240	1.15	4.02	2.14	0.27477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.751360	0.11624	N	0.545538	T	0.21801	0.0525	N	0.21373	0.66	0.21445	N	0.999687	B	0.20671	0.047	B	0.17979	0.02	T	0.28038	-1.0056	10	0.14252	T	0.57	.	8.7594	0.34665	0.0:0.487:0.3604:0.1525	.	116	Q6ZQN7	SO4C1_HUMAN	I	116	ENSP00000309741:V116I	ENSP00000309741:V116I	V	-	1	0	SLCO4C1	101659520	0.011000	0.17503	0.986000	0.45419	0.282000	0.26991	-0.059000	0.11731	0.407000	0.25591	-0.340000	0.08031	GTC		0.642	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		5	18	0	0	0	1	0	5	18					T	101631621	C	T	101631621	3	4	419	1	0	0	0	0	1	0	0	0	14730	536	19	1	1880	1	SLCO4C1	5	101631621	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		101631621	79283639	15	36167											
FBN2	2201	broad.mit.edu	37	chr5	127641280	127641280	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccaggactattgatgcagTctgcattccgctggcagaga	11	10	1	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:127641280T>A	ENST00000508053.1	-	50	6571	c.5597A>T	c.(5596-5598)gAc>gTc	p.D1866V	FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V			P35556	FBN2_HUMAN	fibrillin 2	1866	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)		ATTGATGCAGTCTGCATTCCG	0.438																																						ENST00000508053.1																			0				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						c.(5596-5598)gAc>gTc		fibrillin 2							107	104	105					5																	127641280		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641280T>A	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.5597A>T	5.37:g.127641280T>A	ENSP00000424571:p.Asp1866Val					FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V	p.D1866V			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	50	6571	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1866			EGF-like 30; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5597A>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119266	0.56505	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91521	-2.86;-2.86	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);	0.087525	0.49916	D	0.000136	D	0.84302	0.5442	N	0.01515	-0.825	0.80722	D	1	D	0.58970	0.984	P	0.57679	0.825	D	0.85812	0.1380	10	0.23891	T	0.37	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	1866	P35556	FBN2_HUMAN	V	1866	ENSP00000262464:D1866V;ENSP00000424571:D1866V	ENSP00000262464:D1866V	D	-	2	0	FBN2	127669179	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.538000	0.60650	2.371000	0.80710	0.533000	0.62120	GAC		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	67	0	0	0	1	0	4	67					A	127641280	T	A	127641280	3	1	419	1	0	0	0	0	1	0	0	0	5703	1667	58	5	3229	5	FBN2	5	127641280	Missense_Mutation	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	26009659	127641280	53273980	16	36168											
PCDHA2	56146	broad.mit.edu	37	chr5	140175891	140175891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatcgaggtggccgacGtgaacgacaacgcgccggcg	15	13	0	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:140175891G>A	ENST00000526136.1	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	448	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)			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)			GGTGGCCGACGTGAACGACAA	0.647																																						ENST00000526136.1																			0				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						c.(1342-1344)Gtg>Atg									81	80	80					5																	140175891		2203	4300	6503	SO:0001583	missense	0							g.chr5:140175891G>A	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.1342G>A	5.37:g.140175891G>A	ENSP00000431748:p.Val448Met					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M|PCDHA1_ENST00000504120.2_Intron	p.V448M	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1342	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1342G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.025765	0.75390	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.63744	-0.06;-0.06;-0.06	3.98	3.98	0.46160	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35870	U	0.002930	T	0.81408	0.4816	M	0.88105	2.93	0.42689	D	0.993572	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.69142	0.962;0.953;0.962	D	0.86586	0.1857	10	0.72032	D	0.01	.	16.4215	0.83760	0.0:0.0:1.0:0.0	.	448;448;448	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	448	ENSP00000430584:V448M;ENSP00000367372:V448M;ENSP00000431748:V448M	ENSP00000367372:V448M	V	+	1	0	PCDHA2	140156075	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.537000	0.60643	1.920000	0.55613	0.650000	0.86243	GTG		0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		21	82	0	0	0	1	0	21	82					A	140175891	G	A	140175891	3	1	419	1	0	0	0	0	1	0	0	0	11524	1145	40	1	1344	1	PCDHA2	5	140175891	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	12534611	140175891	40739369	17	36169											
ADAMTS2	9509	broad.mit.edu	37	chr5	178559266	178559266	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtctacctcctgaatgAgcaggtgtctggctcctgca	12	12	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:178559266A>T	ENST00000251582.7	-	15	2356	c.2255T>A	c.(2254-2256)cTc>cAc	p.L752H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	752	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)		CTCCTGAATGAGCAGGTGTCT	0.527																																						ENST00000251582.7																			0				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						c.(2254-2256)cTc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							119	109	113					5																	178559266		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178559266A>T	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.2255T>A	5.37:g.178559266A>T	ENSP00000251582:p.Leu752His						p.L752H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	15	2356	-	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)	752			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2255T>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476057	0.44044	.	.	ENSG00000087116	ENST00000251582	T	0.52754	0.65	5.33	5.33	0.75918	ADAM-TS Spacer 1 (1);	0.000000	0.44285	D	0.000467	T	0.62551	0.2437	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.58668	-0.7596	10	0.13853	T	0.58	.	14.4798	0.67573	1.0:0.0:0.0:0.0	.	752	O95450	ATS2_HUMAN	H	752	ENSP00000251582:L752H	ENSP00000251582:L752H	L	-	2	0	ADAMTS2	178491872	0.431000	0.25546	1.000000	0.80357	0.979000	0.70002	5.043000	0.64208	2.028000	0.59812	0.459000	0.35465	CTC		0.527	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		5	37	0	0	0	1	0	5	37					T	178559266	A	T	178559266	3	4	419	1	0	0	0	0	1	0	0	0	265	304	11	5	1412	5	ADAMTS2	5	178559266	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08	38383375	178559266	2355994	18	36170											
ZFAND3	60685	broad.mit.edu	37	chr6	38120150	38120150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctgccagcgcatcggGgaggggtgctcctgaaggcc	16	14	0	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr6:38120150G>A	ENST00000287218.4	+	6	1116	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFAND3_ENST00000373391.2_Silent_p.G201G|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	223							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AGCGCATCGGGGAGGGGTGCT	0.567																																						ENST00000287218.4																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(667-669)ggG>ggA		zinc finger, AN1-type domain 3							90	85	86					6																	38120150		2203	4300	6503	SO:0001819	synonymous_variant	60685						DNA binding|zinc ion binding	g.chr6:38120150G>A	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"Zinc fingers, AN1-type domain containing"	18019	protein-coding gene	gene with protein product		607455	"testis expressed sequence 27"	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.669G>A	6.37:g.38120150G>A						ZFAND3_ENST00000463847.1_3'UTR|ZFAND3_ENST00000373391.2_Silent_p.G201G	p.G223G	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN			6	1116	+			223					Q5SZZ0|Q5SZZ1	Silent	SNP	ENST00000287218.4	37	c.669G>A	CCDS4836.1																																																																																				0.567	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		4	100	0	0	0	1	0	4	100					A	38120150	G	A	38120150	2	1	419	1	0	0	0	0	0	0	0	1	17626	1219	43	2		2	ZFAND3	6	38120150	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		38120150	132994917	19	36171											
COL28A1	340267	broad.mit.edu	37	chr7	7495728	7495728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggtccttggggtcccaCaggtcctatatccccctgca	9	15	0	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:7495728C>T	ENST00000399429.3	-	16	1458	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	440					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGGGTCCCACAGGTCCTATA	0.428																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1318-1320)Gtg>Atg		collagen, type XXVIII, alpha 1							77	76	76					7																	7495728		1824	4081	5905	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7495728C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1318G>A	7.37:g.7495728C>T	ENSP00000382356:p.Val440Met						p.V440M	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	16	1458	-		Ovarian(82;0.0789)	440					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1318G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811189	0.50527	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.93426	-3.22	4.53	2.72	0.32119	.	0.261045	0.25610	U	0.029491	D	0.82337	0.5015	N	0.11313	0.125	0.23831	N	0.99672	P;B	0.35348	0.496;0.015	B;B	0.31290	0.127;0.008	T	0.75693	-0.3229	10	0.51188	T	0.08	-1.5724	6.5996	0.22693	0.0:0.7882:0.0:0.2118	.	440;440	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	M	440	ENSP00000382356:V440M	ENSP00000382347:V440M	V	-	1	0	COL28A1	7462253	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.197000	0.32211	1.275000	0.44379	0.655000	0.94253	GTG		0.428	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		5	24	0	0	0	1	0	5	24					T	7495728	C	T	7495728	3	4	419	1	0	0	0	0	1	0	0	0	3686	478	17	2	2139	2	COL28A1	7	7495728	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		7495728	151642935	20	36172											
DNAH11	8701	broad.mit.edu	37	chr7	21640404	21640404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacaccctggagacccaCacttacctctgggtggatga	10	12	1	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:21640404C>T	ENST00000409508.3	+	16	3142	c.3111C>T	c.(3109-3111)caC>caT	p.H1037H	DNAH11_ENST00000328843.6_Silent_p.H1037H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1037	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAGACCCACACTTACCTCT	0.453									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3109-3111)caC>caT		dynein, axonemal, heavy chain 11							188	185	186					7																	21640404		1984	4168	6152	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640404C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3111C>T	7.37:g.21640404C>T						DNAH11_ENST00000409508.3_Silent_p.H1037H	p.H1037H			Q96DT5	DYH11_HUMAN			16	3142	+			1037			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.3111C>T																																																																																					0.453	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		27	171	0	0	0	1	0	27	171					T	21640404	C	T	21640404	2	4	419	1	0	0	0	0	0	0	0	1	4599	477	17	2		2	DNAH11	7	21640404	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	14144676	21640404	137498259	21	36173											
MYST3	7994	broad.mit.edu	37	chr8	41791277	41791277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgactggctggggtgagaCtgaacggaggagatagggct	18	6	0	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:41791277C>A	ENST00000396930.3	-	18	5004	c.4461G>T	c.(4459-4461)caG>caT	p.Q1487H	KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1487H|KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1487H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1487					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)										TGGGGTGAGACTGAACGGAGG	0.567																																						ENST00000396930.3																			0											c.(4459-4461)caG>caT		K(lysine) acetyltransferase 6A							131	105	114					8																	41791277		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791277C>A	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.4461G>T	8.37:g.41791277C>A	ENSP00000380136:p.Gln1487His					KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1487H|KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1487H	p.Q1487H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5004	-			1487					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4461G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215341	0.22373	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.58358	0.34;0.34;0.34	6.06	3.26	0.37387	.	0.220209	0.41097	N	0.000948	T	0.24699	0.0599	N	0.02916	-0.46	0.23440	N	0.997672	B	0.22909	0.077	B	0.27262	0.078	T	0.13202	-1.0518	10	0.39692	T	0.17	-5.9629	4.3743	0.11263	0.1296:0.6129:0.125:0.1325	.	1487	Q92794	KAT6A_HUMAN	H	1487	ENSP00000265713:Q1487H;ENSP00000385888:Q1487H;ENSP00000380136:Q1487H	ENSP00000265713:Q1487H	Q	-	3	2	KAT6A	41910434	0.999000	0.42202	0.999000	0.59377	0.968000	0.65278	0.620000	0.24403	0.421000	0.25980	-0.142000	0.14014	CAG		0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		10	56	1	0	2.17888e-05	1	2.25032e-05	10	56					A	41791277	C	A	41791277	3	1	419	1	0	0	0	0	1	0	0	0	10104	564	20	4	1557	4	MYST3	8	41791277	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		41791277	104572745	22	36174											
GPIHBP1	338328	broad.mit.edu	37	chr8	144297321	144297321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcccccggggcagctcCgaaactgtgggcgcagccct	16	16	0	0	rs370155321		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:144297321C>T	ENST00000330824.2	+	4	558	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	161					cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGCAGCTCCGAAACTGTGG	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11374	0.0		0.0	False		,,,				2504	0.0					ENST00000330824.2																			0				lung(2)	2						c.(481-483)tcC>tcT		glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1		C		0,4404		0,0,2202	29	33	32		483	-3.3	0	8		32	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	GPIHBP1	NM_178172.3		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		161/185	144297321	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	338328				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	g.chr8:144297321C>T	AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"endothelial cell LPL transporter"	612757	"GPI anchored high density lipoprotein binding protein 1"			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.483C>T	8.37:g.144297321C>T							p.S161S	NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN			4	558	+	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		161					Q6P3T2|Q86W15	Silent	SNP	ENST00000330824.2	37	c.483C>T	CCDS34954.1																																																																																				0.701	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381113.1	NM_178172		10	29	0	0	0	1	0	10	29					T	144297321	C	T	144297321	2	4	419	1	0	0	0	0	0	0	0	1	6612	639	23	1		1	GPIHBP1	8	144297321	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	102506044	144297321	2066701	23	36175											
SVEP1	79987	broad.mit.edu	37	chr9	113141771	113141771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcaattgcattttctaCgtgagctggtggaccacatg	11	9	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:113141771C>T	ENST00000401783.2	-	44	10600	c.10264G>A	c.(10264-10266)Gta>Ata	p.V3422I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3422	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						GCATTTTCTACGTGAGCTGGT	0.413																																						ENST00000401783.2																			0				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						c.(10264-10266)Gta>Ata		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							84	75	78					9																	113141771		1935	4140	6075	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113141771C>T	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.10264G>A	9.37:g.113141771C>T	ENSP00000384917:p.Val3422Ile					SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I|SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I	p.V3422I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			44	10600	-			3422			Sushi 34.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.10264G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262528	0.10294	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63580	-0.05;-0.05;-0.05	5.87	3.05	0.35203	Complement control module (2);Sushi/SCR/CCP (3);	0.311416	0.35903	N	0.002908	T	0.34164	0.0888	N	0.04994	-0.135	0.80722	D	1	B	0.28470	0.213	B	0.23018	0.043	T	0.07927	-1.0747	10	0.18276	T	0.48	.	9.0913	0.36612	0.0:0.6566:0.0:0.3434	.	3422	Q4LDE5	SVEP1_HUMAN	I	3422;3399;1348	ENSP00000384917:V3422I;ENSP00000363593:V3399I;ENSP00000297826:V1348I	ENSP00000297826:V1348I	V	-	1	0	SVEP1	112181592	0.142000	0.22610	0.113000	0.21522	0.410000	0.31052	0.699000	0.25586	0.833000	0.34828	0.655000	0.94253	GTA		0.413	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23					T	113141771	C	T	113141771	3	4	419	1	0	0	0	0	1	0	0	0	15417	536	19	1	471	1	SVEP1	9	113141771	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		113141771	28071660	24	36176											
CUL2	8453	broad.mit.edu	37	chr10	35320290	35320290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataacccatgaattaaacGttttgccagcattcttgcgt	8	9	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:35320290G>A	ENST00000374748.1	-	15	1637	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	CUL2_ENST00000374746.1_Missense_Mutation_p.R442C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C			Q13617	CUL2_HUMAN	cullin 2	442					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						TGAATTAAACGTTTTGCCAGC	0.303																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1324-1326)Cgt>Tgt		cullin 2							82	82	82					10																	35320290		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35320290G>A	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.1324C>T	10.37:g.35320290G>A	ENSP00000363880:p.Arg442Cys					CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000374746.1_Missense_Mutation_p.R442C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C	p.R442C			Q13617	CUL2_HUMAN			15	1637	-			442					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1324C>T	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635151	0.67130	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.87	4.96	0.65561	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.85299	2.745	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	0.93805	0.7104	10	0.87932	D	0	-18.5811	9.4491	0.38714	0.0714:0.0:0.7011:0.2275	.	442;461;442	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	C	442;442;442;442;385;442;461	ENSP00000363883:R442C;ENSP00000363880:R442C;ENSP00000363878:R442C;ENSP00000363881:R442C;ENSP00000363874:R442C;ENSP00000444856:R461C	ENSP00000363874:R442C	R	-	1	0	CUL2	35360296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.320000	0.51991	2.767000	0.95098	0.591000	0.81541	CGT		0.303	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		8	20	0	0	0	1	0	8	20					A	35320290	G	A	35320290	3	1	419	1	0	0	0	0	1	0	0	0	4055	1145	40	1	945	1	CUL2	10	35320290	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		35320290	100214457	25	36177											
PTEN	5728	broad.mit.edu	37	chr10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacaatcatgttgcaGcaattcactgtaaagctgga	9	7	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		A -> G (in HNSCC). {ECO:0000269|PubMed:11801303}.|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9331071}.		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.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(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)		TCATGTTGCAGCAATTCACTG	0.393		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(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						c.(361-363)Gca>Aca		phosphatase and tensin homolog							138	127	131					10																	89692877		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692877G>A	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.361G>A	10.37:g.89692877G>A	ENSP00000361021:p.Ala121Thr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A121T	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	5	1718	+		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)	121		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.361G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	35	5.440465	0.96168	.	.	ENSG00000171862	ENST00000371953	D	0.85861	-2.04	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	H	0.95365	3.66	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	D	0.96215	0.9156	9	.	.	.	-11.9241	18.7776	0.91918	0.0:0.0:1.0:0.0	.	121	P60484	PTEN_HUMAN	T	121	ENSP00000361021:A121T	.	A	+	1	0	PTEN	89682857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GCA		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		17	56	0	0	0	1	0	17	56					A	89692877	G	A	89692877	3	1	419	1	0	0	0	0	1	0	0	0	12738	971	34	2	379	2	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	54372587	89692877	45841870	26	36178											
SORCS3	22986	broad.mit.edu	37	chr10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtcatacttatcctgaCgaagctgtatgacttcaacc	8	11	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(643-645)aCg>aTg		sortilin-related VPS10 domain containing receptor 3							97	89	92					10																	106602566		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106602566C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.644C>T	10.37:g.106602566C>T	ENSP00000358715:p.Thr215Met						p.T215M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	2	871	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	215					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.644C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438188	0.62955	.	.	ENSG00000156395	ENST00000369701	T	0.42513	0.97	5.78	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.41492	1.28	0.37977	D	0.93348	D	0.89917	1.0	D	0.70716	0.97	T	0.62553	-0.6830	10	0.87932	D	0	.	13.8987	0.63790	0.0:0.9275:0.0:0.0725	.	215	Q9UPU3	SORC3_HUMAN	M	215	ENSP00000358715:T215M	ENSP00000358715:T215M	T	+	2	0	SORCS3	106592556	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.144000	0.71762	1.450000	0.47717	-0.251000	0.11542	ACG		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		14	31	0	0	0	1	0	14	31					T	106602566	C	T	106602566	3	4	419	1	0	0	0	0	1	0	0	0	14932	536	19	1	650	1	SORCS3	10	106602566	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	16909689	106602566	28932181	27	36179											
C11orf41	25758	broad.mit.edu	37	chr11	33564344	33564344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaagaatacagaaacagCgacccatgaggctgagcctc	9	10	0	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:33564344C>T	ENST00000321505.4	+	1	524	c.344C>T	c.(343-345)gCg>gTg	p.A115V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A115V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A115V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	115						integral component of membrane (GO:0016021)											ACAGAAACAGCGACCCATGAG	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(343-345)gCg>gTg		KIAA1549-like							36	37	37					11																	33564344		1892	4112	6004	SO:0001583	missense	25758							g.chr11:33564344C>T	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.344C>T	11.37:g.33564344C>T	ENSP00000315295:p.Ala115Val		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A115V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A115V	p.A115V							1	524	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.344C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485081	0.26598	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.08	0.143	0.14820	.	.	.	.	.	T	0.17534	0.0421	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.17465	0.003;0.022	B;B	0.12156	0.002;0.007	T	0.23190	-1.0195	8	0.23891	T	0.37	.	1.4825	0.02440	0.2271:0.4301:0.122:0.2208	.	115;115	E9PAT2;Q6ZVL6-2	.;.	V	115	.	ENSP00000265654:A115V	A	+	2	0	C11orf41	33520920	0.000000	0.05858	0.007000	0.13788	0.363000	0.29612	-1.253000	0.02877	0.094000	0.17404	0.561000	0.74099	GCG		0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	21	0	0	0	1	0	5	21					T	33564344	C	T	33564344	3	4	419	1	0	0	0	0	1	0	0	0	1640	768	27	1	346	1	C11orf41	11	33564344	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		33564344	101442172	28	36180											
NR1H3	10062	broad.mit.edu	37	chr11	47282968	47282968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagcaacagtgtaacCggcgctccttttctgaccgg	10	15	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:47282968C>T	ENST00000467728.1	+	4	1914	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|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 receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGTGTAACCGGCGCTCCTT	0.627																																						ENST00000467728.1																			1	Substitution - Missense(1)	p.R226W(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(676-678)Cgg>Tgg		nuclear receptor subfamily 1, group H, member 3							57	55	56					11																	47282968		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282968C>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.676C>T	11.37:g.47282968C>T	ENSP00000420656:p.Arg226Trp					NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W	p.R226W			Q13133	NR1H3_HUMAN			4	1914	+			226			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.676C>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245738	0.39697	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;T;D;D;D;D;D	0.95171	-3.63;-3.17;-3.09;0.77;-3.19;-3.63;-3.63;-3.19;-3.38	5.35	-2.12	0.07165	Nuclear hormone receptor, ligand-binding (2);	0.490245	0.21912	N	0.067300	D	0.89030	0.6599	N	0.22421	0.69	0.38914	D	0.957583	B;B;B;B;B	0.23377	0.003;0.0;0.0;0.084;0.003	B;B;B;B;B	0.12156	0.0;0.001;0.001;0.007;0.003	T	0.77466	-0.2577	10	0.49607	T	0.09	.	19.3745	0.94503	0.2761:0.7239:0.0:0.0	.	232;181;226;181;226	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	W	181;181;181;92;226;226;226;226;135	ENSP00000378793:R181W;ENSP00000385073:R181W;ENSP00000433271:R181W;ENSP00000434650:R92W;ENSP00000385801:R226W;ENSP00000387946:R226W;ENSP00000420656:R226W;ENSP00000384745:R226W;ENSP00000432073:R135W	ENSP00000378793:R181W	R	+	1	2	NR1H3	47239544	0.955000	0.32602	0.295000	0.24960	0.930000	0.56654	0.950000	0.29122	-0.109000	0.12044	-0.262000	0.10625	CGG		0.627	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			7	36	0	0	0	1	0	7	36					T	47282968	C	T	47282968	3	4	419	1	0	0	0	0	1	0	0	0	10618	643	23	1	690	1	NR1H3	11	47282968	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	13718624	47282968	87723548	29	36181											
MMP10	4319	broad.mit.edu	37	chr11	102647101	102647101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctggcatctcagatcccGaaggaacagattttgtgggc	13	9	1	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:102647101G>A	ENST00000279441.4	-	6	878	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	281					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|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)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	CTCAGATCCCGAAGGAACAGA	0.478																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(841-843)tCg>tTg		matrix metallopeptidase 10 (stromelysin 2)							89	85	86					11																	102647101		2203	4299	6502	SO:0001583	missense	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647101G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.842C>T	11.37:g.102647101G>A	ENSP00000279441:p.Ser281Leu						p.S281L	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	6	878	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	281					B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	c.842C>T	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873062	0.17322	.	.	ENSG00000166670	ENST00000279441	T	0.13196	2.61	4.26	1.34	0.21922	.	1.849060	0.03184	N	0.172403	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33445	-0.9868	10	0.27785	T	0.31	.	8.0374	0.30502	0.2608:0.0:0.7392:0.0	.	281	P09238	MMP10_HUMAN	L	281	ENSP00000279441:S281L	ENSP00000279441:S281L	S	-	2	0	MMP10	102152311	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.454000	0.21827	0.179000	0.19938	0.644000	0.83932	TCG		0.478	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			16	59	0	0	0	1	0	16	59					A	102647101	G	A	102647101	3	1	419	1	0	0	0	0	1	0	0	0	9649	1059	37	1	608	1	MMP10	11	102647101	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	55364133	102647101	32359415	30	36182											
DGKA	1606	broad.mit.edu	37	chr12	56335069	56335069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaacacccacccacttctcGtctttgtcaatcctaagagt	4	15	3	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000394147.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	379	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.			V -> L (in Ref. 2; AAC34802). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.V379I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACTTCTCGTCTTTGTCAA	0.493																																						ENST00000331886.5																			1	Substitution - Missense(1)	p.V379I(1)	pancreas(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1135-1137)Gtc>Atc		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						115	114	114					12																	56335069		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56335069G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1135G>A	12.37:g.56335069G>A	ENSP00000328405:p.Val379Ile					DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I	p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			14	1589	+			379	V -> L (in Ref. 2; AAC34802).		DAGKc.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1135G>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648661	0.96714	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	T;T;T;T;T	0.50548	0.79;0.74;0.79;0.79;0.74	5.85	5.85	0.93711	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.59487	0.778;0.858	T	0.68379	-0.5424	10	0.66056	D	0.02	.	19.3175	0.94220	0.0:0.0:1.0:0.0	.	298;379	G3V4E1;P23743	.;DGKA_HUMAN	I	379;298;379;379;14	ENSP00000328405:V379I;ENSP00000451743:V298I;ENSP00000377703:V379I;ENSP00000450359:V379I;ENSP00000451518:V14I	ENSP00000328405:V379I	V	+	1	0	DGKA	54621336	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.241000	0.95402	2.941000	0.99782	0.655000	0.94253	GTC		0.493	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			25	84	0	0	0	1	0	25	84					A	56335069	G	A	56335069	3	1	419	1	0	0	0	0	1	0	0	0	4465	1145	40	1	1185	1	DGKA	12	56335069	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		56335069	77516826	31	36183											
KLF5	688	broad.mit.edu	37	chr13	73649880	73649880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtacctgggaaggctgCgactggaggttcgcgcgatc	16	9	0	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr13:73649880C>T	ENST00000377687.4	+	4	1766	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KLF5_ENST00000539231.1_Silent_p.C319C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	410					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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 positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGGAAGGCTGCGACTGGAGGT	0.572																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1228-1230)tgC>tgT		Kruppel-like factor 5 (intestinal)							105	105	105					13																	73649880		2203	4300	6503	SO:0001819	synonymous_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73649880C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1230C>T	13.37:g.73649880C>T						KLF5_ENST00000539231.1_Silent_p.C319C	p.C410C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	4	1766	+		Prostate(6;0.00187)|Breast(118;0.0735)	410					L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	ENST00000377687.4	37	c.1230C>T	CCDS9448.1																																																																																				0.572	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			20	99	0	0	0	1	0	20	99					T	73649880	C	T	73649880	2	4	419	1	0	0	0	0	0	0	0	1	8349	776	27	1		1	KLF5	13	73649880	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		73649880	41519998	32	36184											
LRP10	26020	broad.mit.edu	37	chr14	23346491	23346491	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtctccagcccccactActgtccctgaagccccaggg	9	19	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr14:23346491A>G	ENST00000359591.4	+	7	2588	c.1897A>G	c.(1897-1899)Act>Gct	p.T633A	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	633	Pro-rich.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCCCCCACTACTGTCCCTGA	0.672																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1897-1899)Act>Gct		low density lipoprotein receptor-related protein 10							54	63	60					14																	23346491		2198	4295	6493	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346491A>G	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1897A>G	14.37:g.23346491A>G	ENSP00000352601:p.Thr633Ala					LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	p.T633A	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2588	+	all_cancers(95;4.69e-05)		633			Pro-rich.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1897A>G	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	A	0.910	-0.719237	0.03182	.	.	ENSG00000197324	ENST00000359591	D	0.92149	-2.98	3.79	-3.08	0.05347	.	1.148280	0.06358	N	0.711197	D	0.83982	0.5372	L	0.36672	1.1	0.32362	N	0.557084	B	0.02656	0.0	B	0.01281	0.0	T	0.69117	-0.5230	10	0.38643	T	0.18	-1.2226	0.987	0.01448	0.328:0.1925:0.3198:0.1597	.	633	Q7Z4F1	LRP10_HUMAN	A	633	ENSP00000352601:T633A	ENSP00000352601:T633A	T	+	1	0	LRP10	22416331	0.001000	0.12720	0.000000	0.03702	0.128000	0.20619	-0.631000	0.05496	-0.575000	0.05982	-0.464000	0.05259	ACT		0.672	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			31	108	0	0	0	1	0	31	108					G	23346491	A	G	23346491	3	3	419	1	0	0	0	0	1	0	0	0	8952	391	14	3	1923	3	LRP10	14	23346491	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08		23346491	84003049	33	36185											
SPG11	80208	broad.mit.edu	37	chr15	44949465	44949465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaaatccacatgagctaCatatgtaccatccacaacat	4	12	0	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:44949465C>T	ENST00000261866.7	-	4	713	c.697G>A	c.(697-699)Gta>Ata	p.V233I	SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I|SPG11_ENST00000535302.2_Missense_Mutation_p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	233					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)		ACATGAGCTACATATGTACCA	0.363																																						ENST00000261866.7																			0				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						c.(697-699)Gta>Ata		spastic paraplegia 11 (autosomal recessive)							105	92	96					15																	44949465		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44949465C>T		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.697G>A	15.37:g.44949465C>T	ENSP00000261866:p.Val233Ile					SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000535302.2_Missense_Mutation_p.V233I|SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I	p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		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)	4	713	-		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)	233					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.697G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694574	0.30052	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.29397	1.57;1.57;1.57	5.78	2.82	0.32997	.	0.088379	0.46758	D	0.000269	T	0.23370	0.0565	L	0.46157	1.445	0.20196	N	0.999926	B;B;B;B	0.25955	0.138;0.138;0.112;0.138	B;B;B;B	0.23852	0.027;0.044;0.049;0.027	T	0.16453	-1.0402	10	0.48119	T	0.1	.	6.0482	0.19772	0.0:0.5452:0.2652:0.1896	.	233;233;233;233	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	I	233	ENSP00000261866:V233I;ENSP00000445278:V233I;ENSP00000396110:V233I	ENSP00000261866:V233I	V	-	1	0	SPG11	42736757	0.697000	0.27767	0.655000	0.29622	0.953000	0.61014	1.242000	0.32755	0.806000	0.34183	0.563000	0.77884	GTA		0.363	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			8	32	0	0	0	1	0	8	32					T	44949465	C	T	44949465	3	4	419	1	0	0	0	0	1	0	0	0	15040	478	17	2	6782	2	SPG11	15	44949465	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		44949465	57581927	34	36186											
TEX9	374618	broad.mit.edu	37	chr15	56686955	56686955	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatgcaacagtctcaagtaGaaaaatacaaaactcttttc	4	8	2	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:56686955G>A	ENST00000352903.2	+	9	775	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|TEX9_ENST00000558083.2_Missense_Mutation_p.E176K|TEX9_ENST00000561221.2_Missense_Mutation_p.E251K|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303																																						ENST00000558083.2																			1	Substitution - Missense(1)	p.E251Q(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14						c.(526-528)Gaa>Aaa		testis expressed 9							46	50	49					15																	56686955		2192	4284	6476	SO:0001583	missense	374618							g.chr15:56686955G>A	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.751G>A	15.37:g.56686955G>A	ENSP00000342169:p.Glu251Lys					RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K|TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|TEX9_ENST00000352903.2_Missense_Mutation_p.E251K|TEX9_ENST00000561221.2_Missense_Mutation_p.E251K	p.E176K			Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	8	856	+			251					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.526G>A	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933634	0.92458	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	T;T	0.80824	-1.42;-1.42	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.89933	0.4067	10	0.42905	T	0.14	-28.4564	17.4112	0.87486	0.0:0.0:1.0:0.0	.	176;251	B4DH73;Q8N6V9	.;TEX9_HUMAN	K	251;176	ENSP00000342169:E251K;ENSP00000438745:E176K	ENSP00000342169:E251K	E	+	1	0	TEX9	54474247	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.535000	0.82014	2.453000	0.82957	0.591000	0.81541	GAA		0.303	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		15	27	0	0	0	1	0	15	27					A	56686955	G	A	56686955	3	1	419	1	0	0	0	0	1	0	0	0	15781	943	33	2	785	2	TEX9	15	56686955	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	11737490	56686955	45844437	35	36187											
WDR93	56964	broad.mit.edu	37	chr15	90246288	90246288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctaaacaaatatatgcGtgggagaagcttaaggttga	12	4	0	2	rs377345020		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:90246288G>A	ENST00000268130.7	+	3	512	c.411G>A	c.(409-411)gcG>gcA	p.A137A	WDR93_ENST00000558000.1_Silent_p.A137A|RP11-300G22.2_ENST00000557964.1_RNA|WDR93_ENST00000560294.1_Silent_p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	137					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAATATATGCGTGGGAGAAGC	0.393																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(409-411)gcG>gcA		WD repeat domain 93		G		1,4399	2.1+/-5.4	0,1,2199	172	167	169		411	-7.8	0	15		169	0,8598		0,0,4299	no	coding-synonymous	WDR93	NM_020212.1		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		137/687	90246288	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90246288G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"WD repeat domain containing"	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.411G>A	15.37:g.90246288G>A						WDR93_ENST00000558000.1_Silent_p.A137A|WDR93_ENST00000560294.1_Silent_p.A137A	p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	512	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		137					Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	c.411G>A	CCDS32326.1																																																																																				0.393	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		29	87	0	0	0	1	0	29	87					A	90246288	G	A	90246288	2	1	419	1	0	0	0	0	0	0	0	1	17337	1132	40	1		1	WDR93	15	90246288	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	33559333	90246288	12285104	36	36188											
ITGAX	3687	broad.mit.edu	37	chr16	31374348	31374348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggggccccccattactaCgagcagacccgagggggcca	13	15	0	1	rs199963723	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													C|||	2	0.000399361	0.0	0.0014	5008	,	,		11492	0.0		0.0	False		,,,				2504	0.001					ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1450-1452)taC>taT		integrin, alpha X (complement component 3 receptor 4 subunit)		C		0,4394		0,0,2197	43	49	47		1452	-7.2	0.5	16		47	2,8592		0,2,4295	no	coding-synonymous	ITGAX	NM_000887.3		0,2,6492	TT,TC,CC		0.0233,0.0,0.0154		484/1164	31374348	2,12986	2197	4297	6494	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374348C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1452C>T	16.37:g.31374348C>T						ITGAX_ENST00000562522.1_Silent_p.Y484Y	p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			13	1573	+			484					Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.1452C>T	CCDS10711.1																																																																																				0.677	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		31	76	0	0	0	1	0	31	76					T	31374348	C	T	31374348	2	4	419	1	0	0	0	0	0	0	0	1	7889	547	19	1		1	ITGAX	16	31374348	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		31374348	58980405	37	36189											
COTL1	23406	broad.mit.edu	37	chr16	84651477	84651477	+	Frame_Shift_Del	DEL	T	T	-													agccgtcgtcgcgcaccaggTtgtacgccgcccggcaagcc							TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:84651477delT	ENST00000262428.4	-	1	206	c.44delA	c.(43-45)aacfs	p.N15fs	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	15	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GCGCACCAGGTTGTACGCCGC	0.726																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(43-45)acfs		coactosin-like 1 (Dictyostelium)							16	13	14					16																	84651477		2165	4255	6420	SO:0001589	frameshift_variant	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84651477delT	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.44delA	16.37:g.84651477delT	ENSP00000262428:p.Asn15fs					COTL1_ENST00000564057.1_5'UTR	p.N15fs	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			1	206	-			15			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Frame_Shift_Del	DEL	ENST00000262428.4	37	c.44delA	CCDS10947.1																																																																																				0.726	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		2	4						2	4	---	---	---	---	-	84651477	T	-	84651477	7	5	419	1	0	1	0	1	0	0	0	0	3761	1725	60	0	400	0	COTL1	16	84651477	Frame_Shift_Del	DEL	T	TCGA-S9-A6U0-01A-12D-A32B-08	53277129	84651477	5703276	38	36190											
MYH13	8735	broad.mit.edu	37	chr17	10209888	10209888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggttcttcttcatcCgctccaggtgggcgctggtg	13	13	3	0	rs370257882		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10209888C>T	ENST00000418404.3	-	36	5517	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1785					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						CTTCTTCATCCGCTCCAGGTG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17576	0.0		0.0	False		,,,				2504	0.0					ENST00000418404.3																			0				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						c.(5353-5355)cGg>cAg		myosin, heavy chain 13, skeletal muscle		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	124	123	123		5354	4.2	1	17		123	0,8600		0,0,4300	no	missense	MYH13	NM_003802.2	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	1785/1939	10209888	4,13002	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209888C>T	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.5354G>A	17.37:g.10209888C>T	ENSP00000404570:p.Arg1785Gln					MYH13_ENST00000570743.1_Missense_Mutation_p.R1785Q|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q	p.R1785Q			Q9UKX3	MYH13_HUMAN			36	5517	-			1785					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5354G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243871	0.95272	9.08E-4	0.0	ENSG00000006788	ENST00000252172	T	0.77877	-1.13	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.90696	0.7081	H	0.94808	3.585	0.39963	D	0.974683	D	0.71674	0.998	D	0.66084	0.941	D	0.94127	0.7385	9	0.87932	D	0	.	17.1412	0.86754	0.0:1.0:0.0:0.0	.	1785	Q9UKX3	MYH13_HUMAN	Q	1785	ENSP00000252172:R1785Q	ENSP00000252172:R1785Q	R	-	2	0	MYH13	10150613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.874000	0.69652	2.347000	0.79759	0.491000	0.48974	CGG		0.572	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		34	108	0	0	0	1	0	34	108					T	10209888	C	T	10209888	3	4	419	1	0	0	0	0	1	0	0	0	10032	652	23	1	482	1	MYH13	17	10209888	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		10209888	70985322	39	36191											
MYH13	8735	broad.mit.edu	37	chr17	10216566	10216566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttggccttggacagcgCcctctgcagctcggccttgg	13	14	1	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10216566C>T	ENST00000418404.3	-	29	4253	c.4090G>A	c.(4090-4092)Gcg>Acg	p.A1364T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1364					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						TTGGACAGCGCCCTCTGCAGC	0.637																																						ENST00000418404.3																			0				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						c.(4090-4092)Gcg>Acg		myosin, heavy chain 13, skeletal muscle							168	153	158					17																	10216566		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216566C>T	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.4090G>A	17.37:g.10216566C>T	ENSP00000404570:p.Ala1364Thr					MYH13_ENST00000570743.1_Missense_Mutation_p.A1364T|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T	p.A1364T			Q9UKX3	MYH13_HUMAN			29	4253	-			1364					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4090G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481810	0.63849	.	.	ENSG00000006788	ENST00000252172	D	0.82619	-1.63	3.95	3.95	0.45737	Myosin tail (1);	.	.	.	.	D	0.82802	0.5116	M	0.83692	2.655	0.22280	N	0.999236	B	0.06786	0.001	B	0.18263	0.021	T	0.71669	-0.4523	9	0.32370	T	0.25	.	10.2611	0.43427	0.0:0.9081:0.0:0.0919	.	1364	Q9UKX3	MYH13_HUMAN	T	1364	ENSP00000252172:A1364T	ENSP00000252172:A1364T	A	-	1	0	MYH13	10157291	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	-0.071000	0.11505	2.202000	0.70862	0.455000	0.32223	GCG		0.637	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		40	131	0	0	0	1	0	40	131					T	10216566	C	T	10216566	3	4	419	1	0	0	0	0	1	0	0	0	10032	739	26	2	1774	2	MYH13	17	10216566	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	6678	10216566	70978644	40	36192											
COX10	1352	broad.mit.edu	37	chr17	14095349	14095349	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacttgttgtgctgttccgGgagttgccattctgaccttg	11	11	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:14095349G>C	ENST00000261643.3	+	6	816	c.739G>C	c.(739-741)Gga>Cga	p.G247R	COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	247					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)		TGCTGTTCCGGGAGTTGCCAT	0.498																																						ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(739-741)Gga>Cga		cytochrome c oxidase assembly homolog 10 (yeast)							123	118	120					17																	14095349		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14095349G>C	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.739G>C	17.37:g.14095349G>C	ENSP00000261643:p.Gly247Arg					COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	p.G247R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	6	816	+		all_lung(20;0.06)|Lung SC(565;0.168)	247					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.739G>C	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439478	0.83885	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.94232	-3.38;-3.38;-3.38	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99585	1.0974	10	0.87932	D	0	.	16.7712	0.85538	0.0:0.0:1.0:0.0	.	55;247	B4DJ50;Q12887	.;COX10_HUMAN	R	247;55;30	ENSP00000261643:G247R;ENSP00000439494:G55R;ENSP00000443354:G30R	ENSP00000261643:G247R	G	+	1	0	COX10	14036074	1.000000	0.71417	0.883000	0.34634	0.814000	0.46013	9.060000	0.93907	2.470000	0.83445	0.655000	0.94253	GGA		0.498	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		18	65	0	0	0	1	0	18	65					C	14095349	G	C	14095349	3	2	419	1	0	0	0	0	1	0	0	0	3762	1233	43	4	761	4	COX10	17	14095349	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	3878783	14095349	67099861	41	36193											
NLE1	54475	broad.mit.edu	37	chr17	33464147	33464147	+	Missense_Mutation	SNP	G	G	T													tgcgctcacagcggcctgcaGttgtgtcccagatccgcaca							TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464147G>T	ENST00000442241.4	-	7	740	c.701C>A	c.(700-702)aCt>aAt	p.T234N	NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000586869.1_De_novo_Start_OutOfFrame|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGGCCTGCAGTTGTGTCCCA	0.637																																						ENST00000586869.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22								notchless homolog 1 (Drosophila)							69	61	64					17																	33464147		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33464147G>T		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.701C>A	17.37:g.33464147G>T	ENSP00000413572:p.Thr234Asn					NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000442241.4_Missense_Mutation_p.T234N				Q9NVX2	NLE1_HUMAN			0	844	-		Ovarian(249;0.17)						O60868|Q59GJ8|Q9BU54	Translation_Start_Site	SNP	ENST00000442241.4	37		CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.932|4.932	0.173159|0.173159	0.09391|0.09391	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000537697	.|T	.|0.28255	.|1.62	4.6|4.6	3.62|3.62	0.41486|0.41486	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.322303	.|0.32640	.|N	.|0.005840	T|T	0.16300|0.16300	0.0392|0.0392	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.21655|0.21655	-1.0239|-1.0239	5|10	.|0.14252	.|T	.|0.57	-6.0295|-6.0295	6.2888|6.2888	0.21049|0.21049	0.0979:0.1895:0.7125:0.0|0.0979:0.1895:0.7125:0.0	.|.	.|234	.|Q9NVX2	.|NLE1_HUMAN	M|N	14|234;210	.|ENSP00000413572:T234N	.|ENSP00000413572:T234N	L|T	-|-	1|2	2|0	NLE1|NLE1	30488260|30488260	0.093000|0.093000	0.21703|0.21703	0.112000|0.112000	0.21494|0.21494	0.995000|0.995000	0.86356|0.86356	3.225000|3.225000	0.51246|0.51246	1.152000|1.152000	0.42452|0.42452	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.637	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		8	36	1	0	0.00307968	1	0.00312935	8	36					T	33464147	G	T	33464147	3	4	419	1	0	0	0	0	1	0	0	0	10460	1029	36	4	784	4	NLE1	17	33464147	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	19368798	33464147	47731063	42	36194	154	2									
NLE1	54475	broad.mit.edu	37	chr17	33464148	33464148	+	Missense_Mutation	SNP	T	T	A													gcgctcacagcggcctgcagTtgtgtcccagatccgcacac							TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464148T>A	ENST00000442241.4	-	7	739	c.700A>T	c.(700-702)Act>Tct	p.T234S	NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGGCCTGCAGTTGTGTCCCAG	0.632																																						ENST00000442241.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(700-702)Act>Tct		notchless homolog 1 (Drosophila)							68	61	63					17																	33464148		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33464148T>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.700A>T	17.37:g.33464148T>A	ENSP00000413572:p.Thr234Ser					NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR	p.T234S	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN			7	739	-		Ovarian(249;0.17)	234					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.700A>T	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.539|4.539	0.100073|0.100073	0.08731|0.08731	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000537697	.|T	.|0.26518	.|1.73	4.6|4.6	2.24|2.24	0.28232|0.28232	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.322303	.|0.32640	.|N	.|0.005840	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29212|0.29212	-1.0019|-1.0019	5|10	.|0.07990	.|T	.|0.79	-6.0295|-6.0295	3.1668|3.1668	0.06539|0.06539	0.1739:0.1908:0.0:0.6353|0.1739:0.1908:0.0:0.6353	.|.	.|234	.|Q9NVX2	.|NLE1_HUMAN	H|S	13|234;210	.|ENSP00000413572:T234S	.|ENSP00000413572:T234S	Q|T	-|-	3|1	2|0	NLE1|NLE1	30488261|30488261	0.005000|0.005000	0.15991|0.15991	0.116000|0.116000	0.21606|0.21606	0.996000|0.996000	0.88848|0.88848	0.309000|0.309000	0.19332|0.19332	0.805000|0.805000	0.34159|0.34159	0.533000|0.533000	0.62120|0.62120	CAA|ACT		0.632	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		8	35	0	0	0	1	0	8	35					A	33464148	T	A	33464148	3	1	419	1	0	0	0	0	1	0	0	0	10460	1725	60	5	785	5	NLE1	17	33464148	Missense_Mutation	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	1	33464148	47731062	43	36195	154	2									
TXNDC2	84203	broad.mit.edu	37	chr18	9887569	9887569	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccccaagtccccagaaGaagccatccagcccaaggag	8	16	0	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr18:9887569G>A	ENST00000306084.6	+	2	1292	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E298K|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	365	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				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						GTCCCCAGAAGAAGCCATCCA	0.567																																						ENST00000306084.6																			0				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						c.(1093-1095)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							144	134	138					18																	9887569		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887569G>A	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.1093G>A	18.37:g.9887569G>A	ENSP00000304908:p.Glu365Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E298K|TXNDC2_ENST00000536353.2_3'UTR	p.E365K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1292	+			365			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1093G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154390	0.38021	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.9	-1.83	0.07833	.	.	.	.	.	T	0.10423	0.0255	L	0.29908	0.895	0.09310	N	1	P	0.40282	0.711	B	0.39119	0.291	T	0.25433	-1.0132	8	.	.	.	0.1473	5.3415	0.15986	0.3947:0.1404:0.4649:0.0	.	365	Q86VQ3	TXND2_HUMAN	K	163;298;365;350	ENSP00000350419:E298K;ENSP00000304908:E365K	.	E	+	1	0	TXNDC2	9877569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.798000	0.00762	-0.364000	0.08088	-0.145000	0.13849	GAA		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			33	89	0	0	0	1	0	33	89					A	9887569	G	A	9887569	3	1	419	1	0	0	0	0	1	0	0	0	16794	943	33	2	1099	2	TXNDC2	18	9887569	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		9887569	68189679	44	36196											
OR7G1	125962	broad.mit.edu	37	chr19	9226075	9226075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcaaatggccacatagCggtcgtaggccatgactgca	14	10	0	1	rs140073167	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:9226075C>T	ENST00000541538.1	-	1	364	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR7G1_ENST00000293614.1_Missense_Mutation_p.R122H	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCCACATAGCGGTCGTAGGC	0.483													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19063	0.0		0.0	False		,,,				2504	0.001					ENST00000293614.1																			1	Substitution - Missense(1)	p.R122H(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(364-366)cGc>cAc		olfactory receptor, family 7, subfamily G, member 1		C	HIS/ARG	3,4403	8.1+/-20.4	0,3,2200	121	120	120		365	2.7	0.4	19	dbSNP_134	120	0,8600		0,0,4300	yes	missense	OR7G1	NM_001005192.2	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	122/312	9226075	3,13003	2203	4300	6503	SO:0001583	missense	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226075C>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"GPCR / Class A : Olfactory receptors"	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.365G>A	19.37:g.9226075C>T	ENSP00000444134:p.Arg122His					OR7G1_ENST00000541538.1_Missense_Mutation_p.R122H	p.R122H			Q8NGA0	OR7G1_HUMAN			1	364	-			122					Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	c.365G>A	CCDS32898.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	c	12.65	2.000534	0.35320	6.81E-4	0.0	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.77489	-1.1;-1.1	3.78	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001442	T	0.81259	0.4785	M	0.93328	3.405	0.27687	N	0.946241	B	0.31256	0.316	B	0.26969	0.075	T	0.77443	-0.2586	10	0.72032	D	0.01	.	12.6859	0.56948	0.0:0.8313:0.1687:0.0	.	122	Q8NGA0	OR7G1_HUMAN	H	122	ENSP00000293614:R122H;ENSP00000444134:R122H	ENSP00000293614:R122H	R	-	2	0	OR7G1	9087075	0.966000	0.33281	0.374000	0.26016	0.265000	0.26407	5.008000	0.63991	0.903000	0.36546	0.501000	0.49751	CGC		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			14	70	0	0	0	1	0	14	70					T	9226075	C	T	9226075	3	4	419	1	0	0	0	0	1	0	0	0	11222	768	27	1	644	1	OR7G1	19	9226075	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		9226075	49902908	45	36197											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	20	6	0	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121	130	127					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		4	158	0	0	0	1	0	4	158					A	16006353	G	A	16006353	2	1	419	1	0	0	0	0	0	0	0	1	4188	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	6780278	16006353	43122630	46	36198											
PRX	57716	broad.mit.edu	37	chr19	40903766	40903766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaggccccgacgcaggcGggagaacttgggaaaggaga	17	8	0	3	rs555499679	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:40903766G>A	ENST00000324001.7	-	7	763	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	165	Arg/Lys-rich (basic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACGCAGGCGGGAGAACTTG	0.662													G|||	7	0.00139776	0.0	0.0	5008	,	,		14547	0.0		0.0	False		,,,				2504	0.0072					ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(493-495)Cgc>Tgc		periaxin							12	15	14					19																	40903766		2196	4299	6495	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903766G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.493C>T	19.37:g.40903766G>A	ENSP00000326018:p.Arg165Cys					PRX_ENST00000291825.7_3'UTR	p.R165C	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	763	-			165			Arg/Lys-rich (basic).		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.493C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423573	0.62733	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02369	4.32	4.71	3.63	0.41609	.	0.336467	0.20473	N	0.091651	T	0.06325	0.0163	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.43556	-0.9384	10	0.49607	T	0.09	-2.1534	9.435	0.38632	0.0:0.0:0.7162:0.2838	.	165	Q9BXM0	PRAX_HUMAN	C	165	ENSP00000326018:R165C	ENSP00000326018:R165C	R	-	1	0	PRX	45595606	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.139000	0.42149	2.437000	0.82529	0.591000	0.81541	CGC		0.662	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		4	12	0	0	0	1	0	4	12					A	40903766	G	A	40903766	3	1	419	1	0	0	0	0	1	0	0	0	12642	1116	39	1	3896	1	PRX	19	40903766	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	24897413	40903766	18225217	47	36199											
PSG7	5676	broad.mit.edu	37	chr19	43439576	43439576	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtataaggtgaaggtgaaaCgtccagttactcctccagtc	11	9	0	2	rs184987448	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:43439576C>T	ENST00000406070.2	-	0	506				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GAAGGTGAAACGTCCAGTTAC	0.507																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							281	261	268					19																	43439576		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439576C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439576C>T						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	499	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		59	232	0	0	0	1	0	59	232					T	43439576	C	T	43439576	1	4	419	0	1	0	0	0	0	0	0	0	12660	536	19	1		1	PSG7	19	43439576	RNA	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	2535810	43439576	15689407	48	36200											
PCSK2	5126	broad.mit.edu	37	chr20	17462502	17462502	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagacgcccgaggcacctgGaccctggagctgggatttgt	15	11	0	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr20:17462502G>A	ENST00000262545.2	+	12	2019	c.1704G>A	c.(1702-1704)tgG>tgA	p.W568*	PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	568					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GAGGCACCTGGACCCTGGAGC	0.632																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1702-1704)tgG>tgA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						43	44	44					20																	17462502		2203	4300	6503	SO:0001587	stop_gained	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462502G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1704G>A	20.37:g.17462502G>A	ENSP00000262545:p.Trp568*					PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*|PCSK2_ENST00000459871.1_3'UTR	p.W568*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	2019	+			568					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Nonsense_Mutation	SNP	ENST00000262545.2	37	c.1704G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	41	8.878231	0.98988	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.188	18.6061	0.91266	0.0:0.0:1.0:0.0	.	.	.	.	X	549;568;533	.	ENSP00000262545:W568X	W	+	3	0	PCSK2	17410502	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	TGG		0.632	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		12	30	0	0	0	1	0	12	30					A	17462502	G	A	17462502	4	1	419	1	0	0	0	0	0	1	0	0	11601	1183	41	2	1750	2	PCSK2	20	17462502	Nonsense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		17462502	45563018	49	36201											
PWP2	5822	broad.mit.edu	37	chr21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttaatttcccagggCgctgctgggcggccaccacc	11	16	0	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr21:45547815C>T	ENST00000291576.7	+	18	2270	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715					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)		TTTCCCAGGGCGCTGCTGGGC	0.478																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(2143-2145)Cgc>Tgc		PWP2 periodic tryptophan protein homolog (yeast)							31	33	32					21																	45547815		2202	4300	6502	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45547815C>T		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.2143C>T	21.37:g.45547815C>T	ENSP00000291576:p.Arg715Cys					PWP2_ENST00000494310.1_3'UTR	p.R715C	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	18	2270	+			715					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2143C>T	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049479	0.75846	.	.	ENSG00000241945	ENST00000291576	T	0.62788	0.0	4.56	2.74	0.32292	WD40/YVTN repeat-like-containing domain (1);	0.105649	0.64402	D	0.000003	T	0.72953	0.3525	M	0.89414	3.03	0.58432	D	0.999999	D	0.76494	0.999	P	0.52627	0.704	T	0.76016	-0.3113	10	0.87932	D	0	-19.3044	9.3571	0.38173	0.0:0.8307:0.0:0.1693	.	715	Q15269	PWP2_HUMAN	C	715	ENSP00000291576:R715C	ENSP00000291576:R715C	R	+	1	0	PWP2	44372243	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.271000	0.65553	0.625000	0.30304	0.655000	0.94253	CGC		0.478	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		12	37	0	0	0	1	0	12	37					T	45547815	C	T	45547815	3	4	419	1	0	0	0	0	1	0	0	0	12844	768	27	1	2213	1	PWP2	21	45547815	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		45547815	2582080	50	36202											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960276	117960276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgaggaaggccactcaAaagaaacctgtgacaacgag	13	8	1	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:117960276A>G	ENST00000310164.2	+	4	1576	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	357					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGCCACTCAAAAGAAACCTG	0.488																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(1069-1071)Aaa>Gaa		zinc finger, CCHC domain containing 12							101	83	89					X																	117960276		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960276A>G	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1069A>G	X.37:g.117960276A>G	ENSP00000308921:p.Lys357Glu						p.K357E	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1576	+			357					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.1069A>G	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624759	0.28889	.	.	ENSG00000174460	ENST00000310164	T	0.76709	-1.04	3.3	3.3	0.37823	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.34750	N	0.003706	D	0.85084	0.5616	M	0.78223	2.4	0.27398	N	0.954925	D	0.67145	0.996	D	0.77557	0.99	T	0.76302	-0.3009	10	0.72032	D	0.01	-21.5161	7.2933	0.26378	1.0:0.0:0.0:0.0	.	357	Q6PEW1	ZCH12_HUMAN	E	357	ENSP00000308921:K357E	ENSP00000308921:K357E	K	+	1	0	ZCCHC12	117844304	0.568000	0.26635	0.962000	0.40283	0.004000	0.04260	0.856000	0.27818	1.530000	0.49136	0.486000	0.48141	AAA		0.488	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		3	37	0	0	0	1	0	3	37					G	117960276	A	G	117960276	3	3	419	1	0	0	0	0	1	0	0	0	17578	15	1	3	1071	3	ZCCHC12	23	117960276	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08		117960276	37310284	51	36203											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299212	125299212	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacccacctcgctgtgccaGgcaatgctgccattaaacat	8	14	0	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:125299212G>T	ENST00000360028.2	-	1	722	c.696C>A	c.(694-696)gcC>gcA	p.A232A	DCAF12L2_ENST00000538699.1_Silent_p.A232A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	232										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						CGCTGTGCCAGGCAATGCTGC	0.637																																						ENST00000538699.1																			0				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						c.(694-696)gcC>gcA		DDB1 and CUL4 associated factor 12-like 2							29	32	31					X																	125299212		2203	4298	6501	SO:0001819	synonymous_variant	340578							g.chrX:125299212G>T	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.696C>A	X.37:g.125299212G>T						DCAF12L2_ENST00000360028.2_Silent_p.A232A	p.A232A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	776	-			232					B2RN42	Silent	SNP	ENST00000360028.2	37	c.696C>A	CCDS43991.1																																																																																				0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		14	20	1	0	3.27435e-08	1	3.49634e-08	14	20					T	125299212	G	T	125299212	2	4	419	1	0	0	0	0	0	0	0	1	4265	987	35	4		4	DCAF12L2	23	125299212	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	7338936	125299212	29971348	52	36204											
USP48	84196	broad.mit.edu	37	chr1	22030798	22030798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaagggtttacatctccCacttcaattctcgtgatttt	6	10	4	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:22030798C>T	ENST00000308271.9	-	20	3120	c.2472G>A	c.(2470-2472)gtG>gtA	p.V824V	USP48_ENST00000529637.1_Silent_p.V836V|USP48_ENST00000374732.3_Silent_p.V362V|USP48_ENST00000400301.1_Silent_p.V824V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	824	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				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)		TTACATCTCCCACTTCAATTC	0.358																																						ENST00000308271.9																			0				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						c.(2470-2472)gtG>gtA		ubiquitin specific peptidase 48							92	93	93					1																	22030798		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22030798C>T	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.2472G>A	1.37:g.22030798C>T						USP48_ENST00000400301.1_Silent_p.V824V|USP48_ENST00000374732.3_Silent_p.V362V|USP48_ENST00000529637.1_Silent_p.V836V	p.V824V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		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)	20	3120	-		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)	824			DUSP 3.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.2472G>A	CCDS30623.1																																																																																				0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		69	112	0	0	0	1	0	69	112					T	22030798	C	T	22030798	2	4	420	1	0	0	0	0	0	0	0	1	17076	581	21	2		2	USP48	1	22030798	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		22030798	227219823	1	36205											
ECM1	1893	broad.mit.edu	37	chr1	150483973	150483973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctgtgaggccgagttctCggtcaagacccgaccccact	10	14	3	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:150483973C>T	ENST00000369047.4	+	7	874	c.749C>T	c.(748-750)tCg>tTg	p.S250L	ECM1_ENST00000369049.4_Missense_Mutation_p.S277L|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	250	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)			GCCGAGTTCTCGGTCAAGACC	0.632																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				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						c.(748-750)tCg>tTg		extracellular matrix protein 1							81	80	80					1																	150483973		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483973C>T	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.749C>T	1.37:g.150483973C>T	ENSP00000358043:p.Ser250Leu					ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Missense_Mutation_p.S277L|ECM1_ENST00000470432.1_3'UTR	p.S250L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	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)		7	874	+	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)		250			2 X approximate repeats.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.749C>T	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053897	0.75960	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.79141	-1.24;-1.24	4.29	4.29	0.51040	.	0.565129	0.18027	N	0.154048	D	0.83193	0.5201	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.84586	0.0664	10	0.87932	D	0	-6.4312	12.4287	0.55561	0.0:1.0:0.0:0.0	.	277;250;250	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	L	277;250	ENSP00000358045:S277L;ENSP00000358043:S250L	ENSP00000358043:S250L	S	+	2	0	ECM1	148750597	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	2.268000	0.43338	2.403000	0.81681	0.561000	0.74099	TCG		0.632	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		5	190	0	0	0	1	0	5	190					T	150483973	C	T	150483973	3	4	420	1	0	0	0	0	1	0	0	0	4897	893	31	1	775	1	ECM1	1	150483973	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	128453175	150483973	98766648	2	36206											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214034	204214034	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggacccctgagagcccgaCaccagtgaaaaggggctcag	15	12	1	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:204214034C>A	ENST00000272203.3	-	15	2446	c.2130G>T	c.(2128-2130)gtG>gtT	p.V710V	PLEKHA6_ENST00000414478.1_Silent_p.V730V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	710										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGAGCCCGACACCAGTGAAA	0.627																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2128-2130)gtG>gtT		pleckstrin homology domain containing, family A member 6							11	12	12					1																	204214034		2181	4279	6460	SO:0001819	synonymous_variant	22874							g.chr1:204214034C>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2130G>T	1.37:g.204214034C>A						PLEKHA6_ENST00000414478.1_Silent_p.V730V	p.V710V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		15	2446	-	all_cancers(21;0.0222)|Breast(84;0.179)		710					A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.2130G>T	CCDS1444.1																																																																																				0.627	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		3	7	1	0	0.00024832	1	0.000259356	3	7					A	204214034	C	A	204214034	2	1	420	1	0	0	0	0	0	0	0	1	12060	465	17	4		4	PLEKHA6	1	204214034	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	53730061	204214034	45036587	3	36207											
C1orf95	375057	broad.mit.edu	37	chr1	226784542	226784542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgctgtgcggggcccGcaccgacctcccggacaggc	14	17	0	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:226784542G>A	ENST00000366788.3	+	2	347	c.242G>A	c.(241-243)cGc>cAc	p.R81H	C1orf95_ENST00000366789.4_Missense_Mutation_p.R81H	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	81						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TGCGGGGCCCGCACCGACCTC	0.617																																						ENST00000366788.3																			0				large_intestine(1)|lung(4)|ovary(3)	8						c.(241-243)cGc>cAc		chromosome 1 open reading frame 95							123	114	117					1																	226784542		2203	4300	6503	SO:0001583	missense	375057					integral to membrane		g.chr1:226784542G>A	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.242G>A	1.37:g.226784542G>A	ENSP00000355752:p.Arg81His					C1orf95_ENST00000366789.4_Missense_Mutation_p.R81H	p.R81H	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	2	347	+	Breast(184;0.133)	Prostate(94;0.0885)	81					A6NGL2	Missense_Mutation	SNP	ENST00000366788.3	37	c.242G>A	CCDS31044.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067341	0.93898	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.68	5.68	0.88126	.	0.068968	0.56097	D	0.000023	T	0.71970	0.3403	L	0.46157	1.445	0.53688	D	0.999979	D	0.69078	0.997	P	0.58391	0.838	T	0.72776	-0.4191	9	0.59425	D	0.04	1.0745	19.3828	0.94543	0.0:0.0:1.0:0.0	.	81	Q69YW2	CA095_HUMAN	H	81	.	ENSP00000355752:R81H	R	+	2	0	C1orf95	224851165	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.623000	0.83113	2.669000	0.90835	0.561000	0.74099	CGC		0.617	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665		5	266	0	0	0	1	0	5	266					A	226784542	G	A	226784542	3	1	420	1	0	0	0	0	1	0	0	0	2072	1087	38	1	248	1	C1orf95	1	226784542	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	22570508	226784542	22466079	4	36208											
URB2	9816	broad.mit.edu	37	chr1	229773923	229773923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgactctgttctttttggCcccagaactgcatcccaaaa	6	12	2	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:229773923C>T	ENST00000258243.2	+	4	3699	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1188						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCTTTTTGGCCCCAGAACTG	0.453																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(3562-3564)gCc>gTc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							139	141	141					1																	229773923		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773923C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3563C>T	1.37:g.229773923C>T	ENSP00000258243:p.Ala1188Val						p.A1188V	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	3699	+			1188					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3563C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	8.994	0.978342	0.18812	.	.	ENSG00000135763	ENST00000258243	T	0.31510	1.49	5.65	2.62	0.31277	.	0.428662	0.26867	N	0.022082	T	0.12689	0.0308	N	0.11560	0.145	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.16247	-1.0409	9	.	.	.	-6.9435	4.6092	0.12392	0.1749:0.588:0.0:0.2371	.	1188	Q14146	URB2_HUMAN	V	1188	ENSP00000258243:A1188V	.	A	+	2	0	URB2	227840546	0.001000	0.12720	0.297000	0.24988	0.954000	0.61252	0.399000	0.20916	1.549000	0.49425	0.585000	0.79938	GCC		0.453	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	306	0	0	0	1	0	5	306					T	229773923	C	T	229773923	3	4	420	1	0	0	0	0	1	0	0	0	17022	739	26	2	3573	2	URB2	1	229773923	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	2989381	229773923	19476698	5	36209											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			64	124	0	0	0	1	0	64	124					A	209113113	G	A	209113113	3	1	420	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		209113113	34086260	6	36210											
SCN5A	6331	broad.mit.edu	37	chr3	38622756	38622756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaggcccctctggatgCgggccagggccagctggagg	18	13	1	0	rs199473181		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr3:38622756C>A	ENST00000333535.4	-	17	3043	c.2894G>T	c.(2893-2895)cGc>cTc	p.R965L	SCN5A_ENST00000423572.2_Missense_Mutation_p.R965L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R965L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R965L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R965L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R965L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R965L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R965L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R965L|SCN5A_ENST00000413689.1_Missense_Mutation_p.R965L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	965			R -> C (in BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation). {ECO:0000269|PubMed:11901046, ECO:0000269|PubMed:19272188}.		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)	p.R965H(2)		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)	CCTCTGGATGCGGGCCAGGGC	0.627																																						ENST00000413689.1																			2	Substitution - Missense(2)	p.R965H(2)	lung(2)	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	GRCh37	CM067021	SCN5A	M		c.(2893-2895)cGc>cTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						24	26	26					3																	38622756		2028	4212	6240	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622756C>A	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.2894G>T	3.37:g.38622756C>A	ENSP00000328968:p.Arg965Leu					SCN5A_ENST00000425664.1_Missense_Mutation_p.R965L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R965L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R965L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R965L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R965L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R965L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R965L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R965L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R965L	p.R965L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3087	-	Medulloblastoma(35;0.163)		965		R -> C (in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2894G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046611	0.93740	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	4.59	4.59	0.56863	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.90814	3.15	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.997;0.998;0.998;1.0;0.997	D;D;D;D;D;D;D	0.91635	0.97;0.997;0.95;0.97;0.97;0.999;0.95	D	0.99709	1.1006	10	0.87932	D	0	.	17.6188	0.88075	0.0:1.0:0.0:0.0	.	965;965;965;965;965;965;965	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	L	965	ENSP00000398962:R965L;ENSP00000398266:R965L;ENSP00000410257:R965L;ENSP00000388797:R965L;ENSP00000397915:R965L;ENSP00000416634:R965L;ENSP00000328968:R965L;ENSP00000399524:R965L;ENSP00000403355:R965L;ENSP00000413996:R965L	ENSP00000328968:R965L	R	-	2	0	SCN5A	38597760	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.651000	0.83577	2.399000	0.81585	0.655000	0.94253	CGC		0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	47	1	0	1	1	1	4	47					A	38622756	C	A	38622756	3	1	420	1	0	0	0	0	1	0	0	0	13922	768	27	4	3204	4	SCN5A	3	38622756	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		38622756	159399674	7	36211											
ROBO2	6092	broad.mit.edu	37	chr3	77526572	77526572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttttcctcagtgttacgAgatgacttccgacaaaaccc	6	11	1	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr3:77526572A>G	ENST00000461745.1	+	3	1296	c.396A>G	c.(394-396)cgA>cgG	p.R132R	ROBO2_ENST00000332191.8_Silent_p.R132R|ROBO2_ENST00000487694.3_Silent_p.R148R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	132					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)		CAGTGTTACGAGATGACTTCC	0.463																																						ENST00000461745.1																			0				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						c.(394-396)cgA>cgG		roundabout, axon guidance receptor, homolog 2 (Drosophila)							137	129	132					3																	77526572		1864	4098	5962	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77526572A>G	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.396A>G	3.37:g.77526572A>G						ROBO2_ENST00000332191.8_Silent_p.R132R|ROBO2_ENST00000487694.3_Silent_p.R148R	p.R132R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		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)	3	1296	+			132					O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.396A>G	CCDS43109.1																																																																																				0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		20	275	0	0	0	1	0	20	275					G	77526572	A	G	77526572	2	3	420	1	0	0	0	0	0	0	0	1	13514	291	11	3		3	ROBO2	3	77526572	Silent	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08	38903816	77526572	120495858	8	36212											
PRDM9	56979	broad.mit.edu	37	chr5	23522839	23522839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgttcagccctcagtctgCccccagggctgagaattggg	12	14	3	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr5:23522839C>T	ENST00000296682.3	+	8	909	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	243					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						CCTCAGTCTGCCCCCAGGGCT	0.577										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(727-729)Ccc>Tcc		PR domain containing 9							53	51	52					5																	23522839		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522839C>T	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.727C>T	5.37:g.23522839C>T	ENSP00000296682:p.Pro243Ser	HNSCC(3;0.000094)					p.P243S	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	909	+			243					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.727C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002194	0.54254	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.86769	-2.17	4.02	4.02	0.46733	.	0.000000	0.36200	N	0.002726	D	0.94456	0.8216	M	0.93854	3.465	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	D	0.95312	0.8413	10	0.87932	D	0	-21.1566	12.0507	0.53505	0.0:1.0:0.0:0.0	.	243	Q9NQV7	PRDM9_HUMAN	S	243;37	ENSP00000296682:P243S	ENSP00000253473:P37S	P	+	1	0	PRDM9	23558596	1.000000	0.71417	0.990000	0.47175	0.193000	0.23685	3.875000	0.56108	1.952000	0.56665	0.597000	0.82753	CCC		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		29	58	0	0	0	1	0	29	58					T	23522839	C	T	23522839	3	4	420	1	0	0	0	0	1	0	0	0	12463	739	26	2	753	2	PRDM9	5	23522839	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		23522839	157392421	9	36213											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576786	33576786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctacaaggcctccctcCgaggtaggaccagtatctga	11	12	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr5:33576786C>T	ENST00000504830.1	-	19	3680	c.3345G>A	c.(3343-3345)tcG>tcA	p.S1115S	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.S1030S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1115	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						GGCCTCCCTCCGAGGTAGGAC	0.493										HNSCC(64;0.19)																												ENST00000504830.1																			0				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						c.(3343-3345)tcG>tcA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							92	88	89					5																	33576786		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576786C>T	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.3345G>A	5.37:g.33576786C>T		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.S1030S	p.S1115S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3680	-			1115			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3345G>A	CCDS34140.1																																																																																				0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		4	176	0	0	0	1	0	4	176					T	33576786	C	T	33576786	2	4	420	1	0	0	0	0	0	0	0	1	257	639	23	1		1	ADAMTS12	5	33576786	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	10053947	33576786	147338474	10	36214											
GPR141	353345	broad.mit.edu	37	chr7	37780775	37780775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccaatgcctgtaacagCaaggttgcattttataacga	7	9	0	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr7:37780775C>T	ENST00000447769.1	+	4	1069	c.780C>T	c.(778-780)agC>agT	p.S260S	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.S260S			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGTAACAGCAAGGTTGCAT	0.383																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(778-780)agC>agT		G protein-coupled receptor 141							165	160	162					7																	37780775		2203	4300	6503	SO:0001819	synonymous_variant	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780775C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.780C>T	7.37:g.37780775C>T						GPR141_ENST00000334425.1_Silent_p.S260S|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron	p.S260S			Q7Z602	GP141_HUMAN			4	1069	+			260					A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	c.780C>T	CCDS5451.1																																																																																				0.383	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		5	262	0	0	0	1	0	5	262					T	37780775	C	T	37780775	2	4	420	1	0	0	0	0	0	0	0	1	6649	709	25	2		2	GPR141	7	37780775	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		37780775	121357888	11	36215											
COL1A2	1278	broad.mit.edu	37	chr7	94054923	94054923	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtggtgtcttcacaggGcaaccctgggaacgatggtc	14	9	2	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr7:94054923G>A	ENST00000297268.6	+	43	3254	c.2783G>A	c.(2782-2784)gGc>gAc	p.G928D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	928					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)	TCTTCACAGGGCAACCCTGGG	0.493										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				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						c.e43-1		collagen, type I, alpha 2	Collagenase(DB00048)						92	83	86					7																	94054923		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054923G>A	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.2782-1G>A	7.37:g.94054923G>A		HNSCC(75;0.22)					p.G928_splice	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		43	3254	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		928					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	ENST00000297268.6	37	c.2781_splice	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466298	0.84425	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99176	-5.52	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97473	1.0042	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	928	P08123	CO1A2_HUMAN	D	928;929	ENSP00000297268:G928D	ENSP00000297268:G928D	G	+	2	0	COL1A2	93892859	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGC		0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Missense_Mutation	4	89	0	0	0	1	0	4	89					A	94054923	G	A	94054923	5	1	420	1	0	0	0	0	0	0	1	0	3678	1217	42	2	2953	2	COL1A2	7	94054923	Splice_Site	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	56274148	94054923	65083740	12	36216											
PTPDC1	138639	broad.mit.edu	37	chr9	96859944	96859944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgatgaaggatgtgtccGaaggacctggtctctctgct	13	8	2	3	rs202171045		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr9:96859944G>A	ENST00000375360.3	+	7	1274	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E364K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	312					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E364K(1)|p.E312K(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGATGTGTCCGAAGGACCTGG	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21811	0.0		0.0	False		,,,				2504	0.0					ENST00000375360.3																			2	Substitution - Missense(2)	p.E364K(1)|p.E312K(1)	skin(2)	endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(934-936)Gaa>Aaa		protein tyrosine phosphatase domain containing 1		G	LYS/GLU,LYS/GLU	1,4405		0,1,2202	83	78	80		934,1090	1.2	0	9		80	0,8600		0,0,4300	no	missense,missense	PTPDC1	NM_177995.1,NM_152422.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	312/755,364/807	96859944	1,13005	2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859944G>A	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.934G>A	9.37:g.96859944G>A	ENSP00000364509:p.Glu312Lys					PTPDC1_ENST00000288976.3_Missense_Mutation_p.E364K	p.E312K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1274	+			312					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.934G>A	CCDS6707.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	5.336	0.247379	0.10130	2.27E-4	0.0	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.14022	2.54;2.54	5.82	1.22	0.21188	.	0.534966	0.22894	N	0.054349	T	0.10809	0.0264	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.20671	0.047;0.046;0.047;0.047	B;B;B;B	0.15870	0.009;0.014;0.006;0.006	T	0.21348	-1.0248	10	0.41790	T	0.15	-1.8842	8.2023	0.31432	0.2216:0.1402:0.6381:0.0	.	366;364;366;312	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	312;364	ENSP00000364509:E312K;ENSP00000288976:E364K	ENSP00000288976:E364K	E	+	1	0	PTPDC1	95899765	0.939000	0.31865	0.001000	0.08648	0.014000	0.08584	2.281000	0.43452	0.317000	0.23160	-0.136000	0.14681	GAA		0.468	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		4	229	0	0	0	1	0	4	229					A	96859944	G	A	96859944	3	1	420	1	0	0	0	0	1	0	0	0	12773	1059	37	1	1198	1	PTPDC1	9	96859944	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		96859944	44353487	13	36217											
SEC23IP	11196	broad.mit.edu	37	chr10	121663645	121663645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggatggagggcgctaCgatgtttacctctatgaccg	14	10	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr10:121663645C>T	ENST00000369075.3	+	4	1029	c.957C>T	c.(955-957)taC>taT	p.Y319Y	SEC23IP_ENST00000543134.1_Silent_p.Y108Y	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	319	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)		GAGGGCGCTACGATGTTTACC	0.488																																						ENST00000369075.3																			0				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						c.(955-957)taC>taT		SEC23 interacting protein							112	104	107					10																	121663645		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663645C>T	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.957C>T	10.37:g.121663645C>T						SEC23IP_ENST00000543134.1_Silent_p.Y108Y	p.Y319Y	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	1029	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	319			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.957C>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804528	0.16467	.	.	ENSG00000107651	ENST00000442952	.	.	.	5.33	-7.45	0.01374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.9946	17.8598	0.88777	0.0:0.2151:0.0:0.7849	.	.	.	.	X	85	.	.	R	+	1	2	SEC23IP	121653635	0.008000	0.16893	0.315000	0.25238	0.794000	0.44872	-1.264000	0.02847	-1.568000	0.01670	-0.251000	0.11542	CGA		0.488	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			56	116	0	0	0	1	0	56	116					T	121663645	C	T	121663645	2	4	420	1	0	0	0	0	0	0	0	1	13993	547	19	1		1	SEC23IP	10	121663645	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		121663645	13871102	14	36218											
MS4A1	931	broad.mit.edu	37	chr11	60233595	60233595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaaaactccccatctAcccaatactgttacagcata	4	13	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:60233595A>C	ENST00000534668.1	+	5	827	c.538A>C	c.(538-540)Acc>Ccc	p.T180P	MS4A1_ENST00000389939.2_Missense_Mutation_p.T180P|MS4A1_ENST00000345732.4_Missense_Mutation_p.T180P|MS4A1_ENST00000532073.1_Missense_Mutation_p.T180P|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	180					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	CTCCCCATCTACCCAATACTG	0.373																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(538-540)Acc>Ccc		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						133	124	127					11																	60233595		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60233595A>C	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"CD molecules"	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.538A>C	11.37:g.60233595A>C	ENSP00000433277:p.Thr180Pro					MS4A1_ENST00000345732.4_Missense_Mutation_p.T180P|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.T180P|MS4A1_ENST00000532073.1_Missense_Mutation_p.T180P	p.T180P	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			5	827	+			180					A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.538A>C	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309700	0.40895	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000389939	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	5.13	-0.594	0.11664	.	2.028640	0.01840	N	0.035231	T	0.03095	0.0091	N	0.21373	0.66	0.09310	N	1	P;P	0.48911	0.917;0.856	P;P	0.45195	0.473;0.473	T	0.33979	-0.9847	10	0.33940	T	0.23	1.7403	4.3771	0.11275	0.4794:0.2225:0.2981:0.0	.	180;180	E9PKH8;P11836	.;CD20_HUMAN	P	180	ENSP00000314620:T180P;ENSP00000433519:T180P;ENSP00000433277:T180P;ENSP00000374589:T180P	ENSP00000314620:T180P	T	+	1	0	MS4A1	59990171	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.334000	0.19787	0.062000	0.16340	0.533000	0.62120	ACC		0.373	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			16	224	0	0	0	1	0	16	224					C	60233595	A	C	60233595	3	2	420	1	0	0	0	0	1	0	0	0	9854	391	14	5	552	5	MS4A1	11	60233595	Missense_Mutation	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08		60233595	74772921	15	36219											
SLC22A6	9356	broad.mit.edu	37	chr11	62744652	62744652	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttctgagtgggggcCcacctgctctccaggtcctg	12	14	3	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:62744652C>T	ENST00000377871.3	-	9	1835	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.W479*|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_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	523					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)	gagTGGGGGCCCACCTGCTCT	0.607																																						ENST00000377871.3																			0				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						c.(1567-1569)tgG>tgA		solute carrier family 22 (organic anion transporter), member 6							72	74	74					11																	62744652		2201	4298	6499	SO:0001587	stop_gained	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744652C>T	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.1569G>A	11.37:g.62744652C>T	ENSP00000367102:p.Trp523*					SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.W479*|SLC22A6_ENST00000360421.4_Intron	p.W523*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			9	1835	-			523					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Nonsense_Mutation	SNP	ENST00000377871.3	37	c.1569G>A	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980466	0.92982	.	.	ENSG00000197901	ENST00000377871;ENST00000421062	.	.	.	4.48	0.513	0.17000	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.4495	0.21896	0.0:0.5215:0.0:0.4785	.	.	.	.	X	523;479	.	ENSP00000367102:W523X	W	-	3	0	SLC22A6	62501228	0.005000	0.15991	0.192000	0.23308	0.502000	0.33828	-0.130000	0.10498	-0.014000	0.14175	0.561000	0.74099	TGG		0.607	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		8	213	0	0	0	1	0	8	213					T	62744652	C	T	62744652	4	4	420	1	0	0	0	0	0	1	0	0	14458	624	22	2	130	2	SLC22A6	11	62744652	Nonsense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	2511057	62744652	72261864	16	36220											
INTS4	92105	broad.mit.edu	37	chr11	77629973	77629973	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgctgggaaggatcctcttGaggtatgatgctgggagaaa	15	6	1	3			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:77629973G>C	ENST00000534064.1	-	15	1850	c.1816C>G	c.(1816-1818)Caa>Gaa	p.Q606E		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	606					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGATCCTCTTGAGGTATGATG	0.493																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1816-1818)Caa>Gaa		integrator complex subunit 4							98	97	97					11																	77629973		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77629973G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1816C>G	11.37:g.77629973G>C	ENSP00000434466:p.Gln606Glu						p.Q606E	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		15	1850	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		606					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1816C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	5.021	0.189597	0.09547	.	.	ENSG00000149262	ENST00000534064;ENST00000354849	.	.	.	4.45	4.45	0.53987	.	0.386187	0.27836	N	0.017650	T	0.39682	0.1087	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33599	-0.9862	9	0.02654	T	1	-0.4425	17.3058	0.87194	0.0:0.0:1.0:0.0	.	606	Q96HW7	INT4_HUMAN	E	606;457	.	ENSP00000346913:Q457E	Q	-	1	0	INTS4	77307621	0.997000	0.39634	0.826000	0.32828	0.652000	0.38707	3.587000	0.53957	2.317000	0.78254	0.650000	0.86243	CAA		0.493	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		89	141	0	0	0	1	0	89	141					C	77629973	G	C	77629973	3	2	420	1	0	0	0	0	1	0	0	0	7780	1299	45	4	1111	4	INTS4	11	77629973	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	14885321	77629973	57376543	17	36221											
ACVRL1	94	broad.mit.edu	37	chr12	52310011	52310011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattgcccgccggaccatcGtgaatggtgagggcccaccc	13	14	0	3			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:52310011G>T	ENST00000388922.4	+	8	1523	c.1240G>T	c.(1240-1242)Gtg>Ttg	p.V414L	ACVRL1_ENST00000550683.1_Missense_Mutation_p.V428L|ACVRL1_ENST00000419526.2_Missense_Mutation_p.V240L	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	414	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)	CCGGACCATCGTGAATGGTGA	0.622																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1282-1284)Gtg>Ttg		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						55	50	52					12																	52310011		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52310011G>T	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.1240G>T	12.37:g.52310011G>T	ENSP00000373574:p.Val414Leu					ACVRL1_ENST00000388922.4_Missense_Mutation_p.V414L|ACVRL1_ENST00000419526.2_Missense_Mutation_p.V240L	p.V428L	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	7	1383	+			414			Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1282G>T	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	8.379	0.837128	0.16891	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.92858	-3.12;-3.12;-3.12	4.98	2.13	0.27403	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.559465	0.15026	N	0.284715	T	0.81187	0.4770	N	0.04018	-0.295	0.34036	D	0.654428	B;B	0.19200	0.034;0.005	B;B	0.26310	0.068;0.032	T	0.74867	-0.3518	10	0.28530	T	0.3	.	9.6568	0.39930	0.2331:0.0:0.7669:0.0	.	240;414	E7EN07;P37023	.;ACVL1_HUMAN	L	414;414;428;240;240	ENSP00000373574:V414L;ENSP00000447884:V428L;ENSP00000392492:V240L	ENSP00000267008:V414L	V	+	1	0	ACVRL1	50596278	0.201000	0.23410	0.940000	0.37924	0.283000	0.27025	1.190000	0.32126	0.371000	0.24564	0.563000	0.77884	GTG		0.622	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			3	45	1	0	1	1	1	3	45					T	52310011	G	T	52310011	3	4	420	1	0	0	0	0	1	0	0	0	225	1145	40	4	1266	4	ACVRL1	12	52310011	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		52310011	81541884	18	36222											
TIMELESS	8914	broad.mit.edu	37	chr12	56815192	56815192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagctcccgccgctcagcCaccagccccagagccaagag	9	19	1	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:56815192C>T	ENST00000553532.1	-	23	2961	c.2811G>A	c.(2809-2811)gtG>gtA	p.V937V	TIMELESS_ENST00000229201.4_Silent_p.V936V|TIMELESS_ENST00000554616.1_Silent_p.V434V					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						GCCGCTCAGCCACCAGCCCCA	0.517																																						ENST00000229201.4																			0				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						c.(2806-2808)gtG>gtA		timeless circadian clock							118	115	116					12																	56815192		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815192C>T	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.2811G>A	12.37:g.56815192C>T						TIMELESS_ENST00000554616.1_Silent_p.V434V|TIMELESS_ENST00000553532.1_Silent_p.V937V	p.V936V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			23	2962	-			937						Silent	SNP	ENST00000553532.1	37	c.2808G>A	CCDS8918.1																																																																																				0.517	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		14	247	0	0	0	1	0	14	247					T	56815192	C	T	56815192	2	4	420	1	0	0	0	0	0	0	0	1	15901	581	21	2		2	TIMELESS	12	56815192	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	4505181	56815192	77036703	19	36223											
AGAP2	116986	broad.mit.edu	37	chr12	58121782	58121782	+	Frame_Shift_Del	DEL	C	C	-													ctgactctcgatggcctggaCccaggcatcccgctcctcaa							TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:58121782delC	ENST00000547588.1	-	15	2703	c.2704delG	c.(2704-2706)gtcfs	p.V902fs	AGAP2_ENST00000257897.3_Frame_Shift_Del_p.V546fs|AGAP2-AS1_ENST00000542466.2_3'UTR|RP11-571M6.8_ENST00000548410.2_RNA	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	902	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATGGCCTGGACCCAGGCATCC	0.567																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1636-1638)tcfs		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							155	143	147					12																	58121782		2203	4300	6503	SO:0001589	frameshift_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58121782delC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2704delG	12.37:g.58121782delC	ENSP00000449241:p.Val902fs					AGAP2_ENST00000547588.1_Frame_Shift_Del_p.V902fs|AGAP2-AS1_ENST00000542466.2_3'UTR	p.V546fs	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			14	1721	-			902			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Frame_Shift_Del	DEL	ENST00000547588.1	37	c.1636delG	CCDS44932.1																																																																																				0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		7	271						7	271	---	---	---	---	-	58121782	C	-	58121782	7	5	420	1	0	1	0	1	0	0	0	0	368	507	18	0	894	0	AGAP2	12	58121782	Frame_Shift_Del	DEL	C	TCGA-S9-A6U1-01A-21D-A33T-08	1306590	58121782	75730113	20	36224											
CMA1	1215	broad.mit.edu	37	chr14	24974844	24974844	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgggccaccccagcacacaGaagagggcccccagagtctc	11	17	1	3			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr14:24974844G>A	ENST00000250378.3	-	5	651	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CMA1_ENST00000206446.4_Silent_p.L97L|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCAGCACACAGAAGAGGGCCC	0.612																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(622-624)Ctg>Ttg		chymase 1, mast cell							52	56	55					14																	24974844		2203	4300	6503	SO:0001819	synonymous_variant	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24974844G>A		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.622C>T	14.37:g.24974844G>A						CMA1_ENST00000206446.4_Silent_p.L97L|RP11-80A15.1_ENST00000555109.1_Intron	p.L208L	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	5	651	-			208			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Silent	SNP	ENST00000250378.3	37	c.622C>T	CCDS9630.1																																																																																				0.612	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			8	142	0	0	0	1	0	8	142					A	24974844	G	A	24974844	2	1	420	1	0	0	0	0	0	0	0	1	3574	933	33	2		2	CMA1	14	24974844	Silent	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		24974844	82374696	21	36225											
SSTR1	6751	broad.mit.edu	37	chr14	38679188	38679188	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcgtggtcttctctcgcacCgcggccaacagcgacggcac	11	16	2	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr14:38679188C>G	ENST00000267377.2	+	3	1211	c.594C>G	c.(592-594)acC>acG	p.T198T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	198					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TCTCTCGCACCGCGGCCAACA	0.637																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(592-594)acC>acG		somatostatin receptor 1	Octreotide(DB00104)						76	73	74					14																	38679188		2203	4300	6503	SO:0001819	synonymous_variant	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679188C>G		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.594C>G	14.37:g.38679188C>G							p.T198T	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1211	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		198						Silent	SNP	ENST00000267377.2	37	c.594C>G	CCDS9666.1																																																																																				0.637	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			7	98	0	0	0	1	0	7	98					G	38679188	C	G	38679188	2	3	420	1	0	0	0	0	0	0	0	1	15196	639	23	4		4	SSTR1	14	38679188	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	13704344	38679188	68670352	22	36226											
EPB42	2038	broad.mit.edu	37	chr15	43512971	43512971	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgatgctgcgggggctGcatacagtccagcaagccct	14	12	0	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:43512971G>A	ENST00000441366.2	-	1	236				EPB42_ENST00000540029.1_Intron|EPB42_ENST00000300215.3_Missense_Mutation_p.A18V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2						cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGCGGGGGCTGCATACAGTCC	0.582																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(52-54)gCa>gTa		erythrocyte membrane protein band 4.2							132	128	129					15																	43512971		2203	4299	6502	SO:0001627	intron_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43512971G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.10+42C>T	15.37:g.43512971G>A						EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron	p.A18V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	1	510	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	0					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.53C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856159	0.51376	.	.	ENSG00000166947	ENST00000300215	D	0.85955	-2.05	3.5	2.37	0.29283	.	10.230900	0.00166	N	0.000007	T	0.67869	0.2939	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.62854	-0.6766	9	0.05959	T	0.93	-0.1817	5.0058	0.14288	0.8515:0.0:0.1485:0.0	.	18	P16452-2	.	V	18	ENSP00000300215:A18V	ENSP00000300215:A18V	A	-	2	0	EPB42	41300263	0.004000	0.15560	0.005000	0.12908	0.006000	0.05464	0.829000	0.27449	0.546000	0.28920	-0.379000	0.06801	GCA		0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		5	323	0	0	0	1	0	5	323					A	43512971	G	A	43512971	1	1	420	0	1	0	0	0	0	0	0	0	5158	1319	46	2		2	EPB42	15	43512971	Intron	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		43512971	59018421	23	36227											
UACA	55075	broad.mit.edu	37	chr15	70961406	70961406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgatccttcagttcctcGgttagtctgtgattccctga	8	11	2	3			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:70961406G>A	ENST00000322954.6	-	16	1802	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	UACA_ENST00000539319.1_Silent_p.T430T|UACA_ENST00000560441.1_Silent_p.T524T|UACA_ENST00000379983.2_Silent_p.T526T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	539					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)		p.T526T(1)|p.T539T(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCAGTTCCTCGGTTAGTCTGT	0.383																																						ENST00000322954.6																			2	Substitution - coding silent(2)	p.T526T(1)|p.T539T(1)	lung(2)	breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1615-1617)acC>acT		uveal autoantigen with coiled-coil domains and ankyrin repeats							182	170	174					15																	70961406		2199	4297	6496	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70961406G>A	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.1617C>T	15.37:g.70961406G>A						UACA_ENST00000560441.1_Silent_p.T524T|UACA_ENST00000379983.2_Silent_p.T526T|UACA_ENST00000539319.1_Silent_p.T430T	p.T539T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	1802	-			539					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.1617C>T	CCDS10235.1																																																																																				0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			15	355	0	0	0	1	0	15	355					A	70961406	G	A	70961406	2	1	420	1	0	0	0	0	0	0	0	1	16821	1103	39	1		1	UACA	15	70961406	Silent	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	27448435	70961406	31569986	24	36228											
CCDC33	80125	broad.mit.edu	37	chr15	74625122	74625122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaaaacgcgaagctgcGgacggagctggataagaacc	15	9	0	2	rs374632000		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:74625122G>A	ENST00000398814.3	+	16	2305	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CCDC33_ENST00000558821.1_Missense_Mutation_p.R218Q|CCDC33_ENST00000321288.5_Missense_Mutation_p.R828Q|CCDC33_ENST00000268082.4_Missense_Mutation_p.R218Q	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	828										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						GCGAAGCTGCGGACGGAGCTG	0.602																																						ENST00000321288.5																			0				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						c.(2482-2484)cGg>cAg		coiled-coil domain containing 33		G	GLN/ARG,GLN/ARG	0,3918		0,0,1959	72	80	78		1874,653	3	0.7	15		78	1,8297		0,1,4148	no	missense,missense	CCDC33	NM_025055.3,NM_182791.2	43,43	0,1,6107	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging	625/756,218/368	74625122	1,12215	1959	4149	6108	SO:0001583	missense	80125						protein binding	g.chr15:74625122G>A	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.1874G>A	15.37:g.74625122G>A	ENSP00000381795:p.Arg625Gln					CCDC33_ENST00000268082.4_Missense_Mutation_p.R218Q|CCDC33_ENST00000558821.1_Missense_Mutation_p.R218Q|CCDC33_ENST00000398814.3_Missense_Mutation_p.R625Q	p.R828Q			Q8N5R6	CCD33_HUMAN			18	2483	+			828					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.2483G>A	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409417	0.25378	0.0	1.21E-4	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.36340	1.26;1.67;1.37;1.49	5.04	3.04	0.35103	.	0.250853	0.29699	N	0.011436	T	0.20780	0.0500	L	0.45581	1.43	0.18873	N	0.999988	B;B;P;B	0.40834	0.232;0.36;0.73;0.36	B;B;B;B	0.21360	0.023;0.034;0.026;0.034	T	0.16394	-1.0404	10	0.33141	T	0.24	.	6.9978	0.24793	0.0908:0.0:0.7382:0.171	.	218;218;828;625	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	Q	828;625;218;218	ENSP00000325012:R828Q;ENSP00000381795:R625Q;ENSP00000325661:R218Q;ENSP00000268082:R218Q	ENSP00000268082:R218Q	R	+	2	0	CCDC33	72412175	1.000000	0.71417	0.730000	0.30809	0.186000	0.23388	2.500000	0.45381	1.137000	0.42214	0.543000	0.68304	CGG		0.602	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		14	191	0	0	0	1	0	14	191					A	74625122	G	A	74625122	3	1	420	1	0	0	0	0	1	0	0	0	2806	1116	39	1	2009	1	CCDC33	15	74625122	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	3663716	74625122	27906270	25	36229											
OR4F6	390648	broad.mit.edu	37	chr15	102346232	102346232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagttcagatcttctttAtccatgcagttgggggaact	11	7	3	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:102346232A>G	ENST00000328882.4	+	1	331	c.310A>G	c.(310-312)Atc>Gtc	p.I104V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	104						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)			GATCTTCTTTATCCATGCAGT	0.458																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(310-312)Atc>Gtc		olfactory receptor, family 4, subfamily F, member 6							198	184	189					15																	102346232		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346232A>G	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.310A>G	15.37:g.102346232A>G	ENSP00000327525:p.Ile104Val						p.I104V	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	331	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		104					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.310A>G	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	2.830	-0.242820	0.05906	.	.	ENSG00000184140	ENST00000328882	T	0.00487	7.05	4.64	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.111909	0.39615	N	0.001318	T	0.00178	0.0005	N	0.01824	-0.7	0.09310	N	1	B	0.20671	0.047	B	0.18871	0.023	T	0.32402	-0.9908	10	0.21540	T	0.41	.	4.6817	0.12738	0.7051:0.196:0.0989:0.0	.	104	Q8NGB9	OR4F6_HUMAN	V	104	ENSP00000327525:I104V	ENSP00000327525:I104V	I	+	1	0	OR4F6	100163755	0.000000	0.05858	0.802000	0.32245	0.187000	0.23431	-0.858000	0.04281	0.856000	0.35383	0.482000	0.46254	ATC		0.458	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			13	465	0	0	0	1	0	13	465					G	102346232	A	G	102346232	3	3	420	1	0	0	0	0	1	0	0	0	11066	449	16	3	312	3	OR4F6	15	102346232	Missense_Mutation	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08	27721110	102346232	185160	26	36230											
DSG1	1828	broad.mit.edu	37	chr18	28919761	28919761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattaacattcaaagttttgGtaatgacgacaggactaata	7	5	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr18:28919761G>A	ENST00000257192.4	+	11	1672	c.1460G>A	c.(1459-1461)gGt>gAt	p.G487D		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	487	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			CAAAGTTTTGGTAATGACGAC	0.328																																						ENST00000257192.4																			0				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						c.(1459-1461)gGt>gAt		desmoglein 1							77	79	78					18																	28919761		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28919761G>A	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.1460G>A	18.37:g.28919761G>A	ENSP00000257192:p.Gly487Asp						p.G487D	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		11	1672	+			487			Cadherin 4.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1460G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	g	2.756	-0.258975	0.05791	.	.	ENSG00000134760	ENST00000257192	T	0.60299	0.2	5.03	-1.19	0.09585	Cadherin (2);	0.574961	0.16718	N	0.202362	T	0.50326	0.1609	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46219	-0.9207	10	0.51188	T	0.08	.	5.9414	0.19196	0.4416:0.1347:0.4237:0.0	.	487	Q02413	DSG1_HUMAN	D	487	ENSP00000257192:G487D	ENSP00000257192:G487D	G	+	2	0	DSG1	27173759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-0.405000	0.07599	-2.354000	0.00241	GGT		0.328	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		8	138	0	0	0	1	0	8	138					A	28919761	G	A	28919761	3	1	420	1	0	0	0	0	1	0	0	0	4776	1261	44	2	1502	2	DSG1	18	28919761	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		28919761	49157487	27	36231											
SEL1L2	80343	broad.mit.edu	37	chr20	13850848	13850848	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaaggccgattgcattgCcctagaagagttttataaag	10	7	0	3	rs569791808		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr20:13850848C>T	ENST00000284951.5	-	13	1180	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	SEL1L2_ENST00000378072.5_Splice_Site_p.G369D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	369						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GATTGCATTGCCCTAGAAGAG	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16827	0.0		0.0	False		,,,				2504	0.001					ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.e13-1		sel-1 suppressor of lin-12-like 2 (C. elegans)							67	69	68					20																	13850848		1804	4073	5877	SO:0001630	splice_region_variant	80343					integral to membrane	binding	g.chr20:13850848C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1105-1G>A	20.37:g.13850848C>T						SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Splice_Site_p.G369_splice	p.G369_splice			Q5TEA6	SE1L2_HUMAN			13	1180	-			369					B4DXX5	Splice_Site	SNP	ENST00000284951.5	37	c.1104_splice		.	.	.	.	.	.	.	.	.	.	C	17.77	3.470633	0.63625	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58506	0.33;0.33	5.45	4.51	0.55191	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000029	T	0.77432	0.4129	M	0.88906	2.99	0.80722	D	1	P;D	0.89917	0.943;1.0	P;D	0.97110	0.874;1.0	T	0.80091	-0.1527	9	.	.	.	-1.6905	10.1881	0.43011	0.0:0.9082:0.0:0.0918	.	369;369	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	369	ENSP00000367312:G369D;ENSP00000284951:G369D	.	G	-	2	0	SEL1L2	13798848	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.093000	0.71422	1.309000	0.44985	0.557000	0.71058	GGC		0.338	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	Missense_Mutation	12	153	0	0	0	1	0	12	153					T	13850848	C	T	13850848	5	4	420	1	0	0	0	0	0	0	1	0	14011	753	26	2	992	2	SEL1L2	20	13850848	Splice_Site	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		13850848	49174672	28	36232											
XKR3	150165	broad.mit.edu	37	chr22	17264884	17264884	+	Frame_Shift_Del	DEL	A	A	-													ccccacctctgtctcccgtcAattattttgtcatctgacaa							TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr22:17264884delA	ENST00000331428.5	-	4	1107	c.1005delT	c.(1003-1005)attfs	p.I335fs		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCTCCCGTCAATTATTTTGT	0.408																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1003-1005)atfs		XK, Kell blood group complex subunit-related family, member 3							52	48	49					22																	17264884		1515	3484	4999	SO:0001589	frameshift_variant	150165					integral to membrane|plasma membrane		g.chr22:17264884delA	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.1005delT	22.37:g.17264884delA	ENSP00000331704:p.Ile335fs						p.I335fs	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			4	1107	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	335					B2RPN1|Q52PG8|Q8N7E1	Frame_Shift_Del	DEL	ENST00000331428.5	37	c.1005delT	CCDS42975.1																																																																																				0.408	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		90	42						90	42	---	---	---	---	-	17264884	A	-	17264884	7	5	420	1	0	1	0	1	0	0	0	0	17429	126	5	0	378	0	XKR3	22	17264884	Frame_Shift_Del	DEL	A	TCGA-S9-A6U1-01A-21D-A33T-08		17264884	34039682	29	36233											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					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)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	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.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	32	0	0	0	1	0	3	32					A	57619097	G	A	57619097	3	1	420	1	0	0	0	0	1	0	0	0	18248	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		57619097	97651463	30	36234											
ATRX	546	broad.mit.edu	37	chrX	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													aagcaacttgcaccttttctTctctctaccatatgctccat							TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:76937477_76937480delTCTC	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.EK1090fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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						CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3268-3273)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937477_76937480delTCTC	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.3268_3271delGAGA	X.37:g.76937477_76937480delTCTC	ENSP00000362441:p.Glu1090fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs	p.EK1090fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3482_3485	-			1090					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3268_3271delGAGA	CCDS14434.1																																																																																				0.377	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		221	438						221	438	---	---	---	---	-	76937480	TCTC	-	76937477	7	5	420	1	0	1	0	1	0	0	0	0	1208	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-S9-A6U1-01A-21D-A33T-08	19318380	76937477	78333083	31	36235											
PCDH19	57526	broad.mit.edu	37	chrX	99662844	99662844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacgggtgtgttgggaggcGagttttctggcacgctcacc	16	9	2	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:99662844G>A	ENST00000373034.4	-	1	2427	c.752C>T	c.(751-753)tCg>tTg	p.S251L	PCDH19_ENST00000420881.2_Missense_Mutation_p.S251L|PCDH19_ENST00000255531.7_Missense_Mutation_p.S251L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	251	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						GTTGGGAGGCGAGTTTTCTGG	0.602																																						ENST00000373034.4																			0				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						c.(751-753)tCg>tTg		protocadherin 19							143	145	145					X																	99662844		2188	4272	6460	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662844G>A	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.752C>T	X.37:g.99662844G>A	ENSP00000362125:p.Ser251Leu					PCDH19_ENST00000255531.7_Missense_Mutation_p.S251L|PCDH19_ENST00000420881.2_Missense_Mutation_p.S251L	p.S251L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2427	-			251			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.752C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503820	0.85176	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52754	0.65;0.65;0.65	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.115858	0.64402	D	0.000012	T	0.55337	0.1914	L	0.48986	1.54	0.80722	D	1	P;P;P	0.49253	0.859;0.903;0.921	B;P;P	0.51193	0.207;0.532;0.662	T	0.45673	-0.9245	10	0.26408	T	0.33	.	19.254	0.93938	0.0:0.0:1.0:0.0	.	251;251;251	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	L	251	ENSP00000400327:S251L;ENSP00000362125:S251L;ENSP00000255531:S251L	ENSP00000255531:S251L	S	-	2	0	PCDH19	99549500	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	9.869000	0.99810	2.498000	0.84270	0.513000	0.50165	TCG		0.602	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		74	209	0	0	0	1	0	74	209					A	99662844	G	A	99662844	3	1	420	1	0	0	0	0	1	0	0	0	11514	1059	37	1	2718	1	PCDH19	23	99662844	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	22725367	99662844	55607716	32	36236											
FRMD7	90167	broad.mit.edu	37	chrX	131216554	131216554	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggtatccttgcacaacaCctgtataaaccaatttccat	4	12	0	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:131216554C>A	ENST00000298542.4	-	9	917	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	FRMD7_ENST00000370879.1_Splice_Site_p.V128L|FRMD7_ENST00000464296.1_Splice_Site_p.V233L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	248	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCACAACACCTGTATAAAC	0.448																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.e9-1		FERM domain containing 7							119	107	111					X																	131216554		2203	4300	6503	SO:0001630	splice_region_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131216554C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.742-1G>T	X.37:g.131216554C>A						FRMD7_ENST00000464296.1_Splice_Site_p.V233_splice|FRMD7_ENST00000370879.1_Splice_Site_p.V128_splice	p.V248_splice	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			9	917	-	Acute lymphoblastic leukemia(192;0.000127)		248			FERM.		C0LLJ3|Q5JX99	Splice_Site	SNP	ENST00000298542.4	37	c.741_splice	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574369	0.28092	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86497	-2.13;-2.13;-2.13	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.598709	0.16454	N	0.213725	T	0.79470	0.4451	L	0.29908	0.895	0.37055	D	0.897782	P;P	0.36837	0.571;0.485	B;B	0.34991	0.121;0.193	T	0.81072	-0.1098	10	0.41790	T	0.15	.	10.6459	0.45619	0.0:0.9098:0.0:0.0902	.	233;248	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	L	128;248;233	ENSP00000359916:V128L;ENSP00000298542:V248L;ENSP00000417996:V233L	ENSP00000298542:V248L	V	-	1	0	FRMD7	131044235	0.987000	0.35691	0.999000	0.59377	0.617000	0.37484	1.422000	0.34826	2.306000	0.77630	0.544000	0.68410	GTG		0.448	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	Missense_Mutation	11	297	1	0	4.68919e-08	1	5.12539e-08	11	297					A	131216554	C	A	131216554	5	1	420	1	0	0	0	0	0	0	1	0	6055	521	18	4	1418	4	FRMD7	23	131216554	Splice_Site	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	31553710	131216554	24054006	33	36237											
ARID1A	8289	broad.mit.edu	37	chr1	27094325	27094325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgagaagatcaccaagttGtatgagctgggtggtgagcc	14	6	1	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:27094325G>T	ENST00000324856.7	+	11	3404	c.3033G>T	c.(3031-3033)ttG>ttT	p.L1011F	ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1011					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)		TCACCAAGTTGTATGAGCTGG	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(3031-3033)ttG>ttT		AT rich interactive domain 1A (SWI-like)							141	118	126					1																	27094325		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094325G>T	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.3033G>T	1.37:g.27094325G>T	ENSP00000320485:p.Leu1011Phe					ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F|ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F	p.L1011F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	11	3404	+		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)	1011					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3033G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207364	0.58343	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.49432	0.78;0.78;0.78	5.17	2.2	0.27929	ARID/BRIGHT DNA-binding domain (2);	0.000000	0.64402	D	0.000001	T	0.56804	0.2010	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.975;0.996;0.99	T	0.55192	-0.8179	10	0.87932	D	0	-4.6804	3.3727	0.07227	0.1759:0.1181:0.5857:0.1204	.	1011;1011;665	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	F	1011;1011;628	ENSP00000320485:L1011F;ENSP00000387636:L1011F;ENSP00000363267:L628F	ENSP00000320485:L1011F	L	+	3	2	ARID1A	26966912	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.266000	0.33039	0.295000	0.22570	0.655000	0.94253	TTG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	93	1	0	0.014758	1	0.015192	5	93					T	27094325	G	T	27094325	3	4	421	1	0	0	0	0	1	0	0	0	913	1368	48	4	3075	4	ARID1A	1	27094325	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		27094325	222156296	1	36238											
FLG	2312	broad.mit.edu	37	chr1	152280920	152280920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgggacccctgtcttcCtcctctgcttggccccgggt	12	15	2	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152280920C>T	ENST00000368799.1	-	3	6477	c.6442G>A	c.(6442-6444)Gga>Aga	p.G2148R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2148	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)			CCCTGTCTTCCTCCTCTGCTT	0.577									Ichthyosis																													ENST00000368799.1																			0				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						c.(6442-6444)Gga>Aga		filaggrin							402	324	350					1																	152280920		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280920C>T	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.6442G>A	1.37:g.152280920C>T	ENSP00000357789:p.Gly2148Arg					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2148R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6477	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2148			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6442G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.014	-0.000085	0.07819	.	.	ENSG00000143631	ENST00000368799	T	0.02280	4.36	2.87	-0.374	0.12512	.	.	.	.	.	T	0.00580	0.0019	L	0.41824	1.3	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.45716	-0.9242	9	0.16420	T	0.52	.	3.7224	0.08462	0.0:0.5436:0.2014:0.2549	.	2148	P20930	FILA_HUMAN	R	2148	ENSP00000357789:G2148R	ENSP00000357789:G2148R	G	-	1	0	FLG	150547544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.714000	0.05002	-0.239000	0.09710	-1.417000	0.01113	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		292	855	0	0	0	1	0	292	855					T	152280920	C	T	152280920	3	4	421	1	0	0	0	0	1	0	0	0	5922	690	24	2	5747	2	FLG	1	152280920	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	125186595	152280920	96969701	2	36239											
FLG2	388698	broad.mit.edu	37	chr1	152323466	152323466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgtgtgtgagccccAtgagtgcacttcactgtcac	11	10	2	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152323466A>C	ENST00000388718.5	-	3	6868	c.6796T>G	c.(6796-6798)Tgg>Ggg	p.W2266G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2266					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)			TGTGAGCCCCATGAGTGCACT	0.522																																						ENST00000388718.5																			0				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						c.(6796-6798)Tgg>Ggg		filaggrin family member 2							334	311	319					1																	152323466		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323466A>C	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.6796T>G	1.37:g.152323466A>C	ENSP00000373370:p.Trp2266Gly					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.W2266G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6868	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2266					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6796T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.736344	0.00681	.	.	ENSG00000143520	ENST00000388718	T	0.34072	1.38	4.59	-6.0	0.02206	.	.	.	.	.	T	0.01189	0.0039	N	0.00088	-2.19	0.09310	N	1	B	0.19935	0.04	B	0.20384	0.029	T	0.40942	-0.9536	9	0.15499	T	0.54	-0.0063	1.1058	0.01693	0.2295:0.3527:0.1099:0.3078	.	2266	Q5D862	FILA2_HUMAN	G	2266	ENSP00000373370:W2266G	ENSP00000373370:W2266G	W	-	1	0	FLG2	150590090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.312000	0.01127	-1.199000	0.02666	-2.434000	0.00213	TGG		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	768	0	0	0	1	0	5	768					C	152323466	A	C	152323466	3	2	421	1	0	0	0	0	1	0	0	0	5923	217	8	5	383	5	FLG2	1	152323466	Missense_Mutation	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08	42546	152323466	96927155	3	36240											
C2orf61	285051	broad.mit.edu	37	chr2	47382321	47382321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttaccgaagctgtgaTgaatgattctccacccacca	6	14	2	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:47382321T>C	ENST00000445927.2	-	1	196	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	C2orf61_ENST00000294947.2_Missense_Mutation_p.I24V|RP11-761B3.1_ENST00000422269.1_Intron	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	24								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGCTGTGATGAATGATTCT	0.607																																						ENST00000294947.2																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|kidney(1)|lung(2)	4						c.(70-72)Atc>Gtc		chromosome 2 open reading frame 61							104	87	93					2																	47382321		2203	4300	6503	SO:0001583	missense	285051							g.chr2:47382321T>C	AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.70A>G	2.37:g.47382321T>C	ENSP00000408527:p.Ile24Val					C2orf61_ENST00000445927.2_Missense_Mutation_p.I24V|CALM2_ENST00000422269.1_Intron	p.I24V	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		1	105	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	24					H7C2Z2	Missense_Mutation	SNP	ENST00000445927.2	37	c.70A>G	CCDS54356.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.303759	0.00240	.	.	ENSG00000239605	ENST00000445927;ENST00000294947	T;T	0.29917	1.55;1.56	2.25	0.0738	0.14392	.	.	.	.	.	T	0.07007	0.0178	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	9	0.10377	T	0.69	.	3.6009	0.08024	0.0:0.4153:0.3976:0.1871	.	24	Q8N801	CB061_HUMAN	V	24	ENSP00000408527:I24V;ENSP00000294947:I24V	ENSP00000294947:I24V	I	-	1	0	C2orf61	47235825	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.862000	0.04263	0.006000	0.14734	-0.534000	0.04291	ATC		0.607	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173649		15	43	0	0	0	1	0	15	43					C	47382321	T	C	47382321	3	2	421	1	0	0	0	0	1	0	0	0	2180	1464	51	3	719	3	C2orf61	2	47382321	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		47382321	195817052	4	36241											
IL1RL1	9173	broad.mit.edu	37	chr2	102964544	102964544	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagctaaaccttacaagacTaggaatggtaagtggcaaat	9	6	0	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:102964544T>C	ENST00000233954.1	+	9	1381	c.1110T>C	c.(1108-1110)acT>acC	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383																																						ENST00000233954.1																			2	Substitution - coding silent(2)	p.T370T(2)	lung(2)	NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1108-1110)acT>acC		interleukin 1 receptor-like 1							120	112	115					2																	102964544		2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102964544T>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1110T>C	2.37:g.102964544T>C							p.T370T	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			9	1381	+			370					A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1110T>C	CCDS2057.1																																																																																				0.383	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		5	105	0	0	0	1	0	5	105					C	102964544	T	C	102964544	2	2	421	1	0	0	0	0	0	0	0	1	7663	1509	53	3		3	IL1RL1	2	102964544	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	55582223	102964544	140234829	5	36242											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			57	118	0	0	0	1	0	57	118					T	209113112	C	T	209113112	3	4	421	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	106148568	209113112	34086261	6	36243											
TRPM8	79054	broad.mit.edu	37	chr2	234905161	234905161	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catggagtcttctgtctgctGtgagtggtttatccatgtgt	12	7	3	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:234905161G>C	ENST00000324695.4	+	22	3170		c.e22+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8						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)	TCTGTCTGCTGTGAGTGGTTT	0.453																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.e22+1		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						136	123	127					2																	234905161		2203	4300	6503	SO:0001630	splice_region_variant	79054					integral to membrane		g.chr2:234905161G>C	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.3130+1G>C	2.37:g.234905161G>C						TRPM8_ENST00000433712.2_Splice_Site		NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	22	3170	+		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)						A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Splice_Site	SNP	ENST00000324695.4	37		CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137294	0.56936	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5649	0.91113	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPM8	234569900	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	6.662000	0.74426	2.793000	0.96121	0.655000	0.94253	.		0.453	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	Intron	39	91	0	0	0	1	0	39	91					C	234905161	G	C	234905161	5	2	421	1	0	0	0	0	0	0	1	0	16589	1391	48	4	3213	4	TRPM8	2	234905161	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	25792049	234905161	8294212	7	36244											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	14	9	0	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					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						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				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						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132	121	125					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	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	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	205	0	0	0	1	0	4	205					T	124418865	C	T	124418865	4	4	421	1	0	0	0	0	0	1	0	0	7975	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		124418865	73603565	8	36245											
PIK3CA	5290	broad.mit.edu	37	chr3	178916929	178916929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagtaattgaaccagtaGgcaaccgtgaagaaaagatc	9	6	0	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:178916929G>A	ENST00000263967.3	+	2	473	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		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.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		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)	TGAACCAGTAGGCAACCGTGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		8	Substitution - Missense(3)|Deletion - In frame(3)|Complex - deletion inframe(2)	p.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(1)	large_intestine(3)|breast(3)|lung(1)|endometrium(1)	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						c.(316-318)Ggc>Agc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90	86	87					3																	178916929		1824	4071	5895	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916929G>A		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.316G>A	3.37:g.178916929G>A	ENSP00000263967:p.Gly106Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G106S	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	473	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.316G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734081	0.89482	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74842	0.76;-0.88	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	S	106	ENSP00000263967:G106S;ENSP00000417479:G106S	.	G	+	1	0	PIK3CA	180399623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			82	122	0	0	0	1	0	82	122					A	178916929	G	A	178916929	3	1	421	1	0	0	0	0	1	0	0	0	11913	1000	35	2	318	2	PIK3CA	3	178916929	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	54498064	178916929	19105501	9	36246											
SEC24B	10427	broad.mit.edu	37	chr4	110459714	110459714	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttcataacttggcttagAgacagcagaccattaagtcc	7	11	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr4:110459714A>G	ENST00000265175.5	+	23	3709	c.3654A>G	c.(3652-3654)agA>agG	p.R1218R	SEC24B_ENST00000399100.2_Silent_p.R1183R|SEC24B_ENST00000504968.2_Silent_p.R1248R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1218					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	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)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTGGCTTAGAGACAGCAGAC	0.358																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3652-3654)agA>agG		SEC24 family member B							154	149	150					4																	110459714		1873	4095	5968	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110459714A>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3654A>G	4.37:g.110459714A>G						SEC24B_ENST00000399100.2_Silent_p.R1183R|SEC24B_ENST00000504968.2_Silent_p.R1248R	p.R1218R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	23	3709	+		Hepatocellular(203;0.217)	1218					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.3654A>G	CCDS47124.1																																																																																				0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			4	198	0	0	0	1	0	4	198					G	110459714	A	G	110459714	2	3	421	1	0	0	0	0	0	0	0	1	13995	301	11	3		3	SEC24B	4	110459714	Silent	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08		110459714	80694562	10	36247											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762583	140762583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccgtgtcggaggagacGgacaaagggtcctttgtggg	16	8	0	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr5:140762583G>A	ENST00000518325.1	+	1	117	c.117G>A	c.(115-117)acG>acA	p.T39T	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	39	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)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGGAGACGGACAAAGGGT	0.647																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(115-117)acG>acA									40	49	46					5																	140762583		2070	4241	6311	SO:0001819	synonymous_variant	0							g.chr5:140762583G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.117G>A	5.37:g.140762583G>A						PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T39T	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	117	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.117G>A	CCDS54927.1																																																																																				0.647	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		4	212	0	0	0	1	0	4	212					A	140762583	G	A	140762583	2	1	421	1	0	0	0	0	0	0	0	1	11559	1103	39	1		1	PCDHGA7	5	140762583	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		140762583	40152677	11	36248											
HIVEP1	3096	broad.mit.edu	37	chr6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagattcagttatgagCgatctggatatgatcttgaa	10	5	3	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					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)				CAGTTATGAGCGATCTGGATA	0.383																																						ENST00000379388.2																			0				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						c.(6514-6516)Cga>Tga		human immunodeficiency virus type I enhancer binding protein 1							84	91	89					6																	12161698		1948	4148	6096	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161698C>T	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.6514C>T	6.37:g.12161698C>T	ENSP00000368698:p.Arg2172*					HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	p.R2172*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			8	6846	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2172					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.6514C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		82	150	0	0	0	1	0	82	150					T	12161698	C	T	12161698	4	4	421	1	0	0	0	0	0	1	0	0	7186	760	27	1	6540	1	HIVEP1	6	12161698	Nonsense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		12161698	158953369	12	36249											
DCDC2	51473	broad.mit.edu	37	chr6	24205328	24205328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagctttgaaaatgccttCatctattgagacaaacacac	5	11	2	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:24205328C>T	ENST00000378454.3	-	8	1226	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	309					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAAATGCCTTCATCTATTGAG	0.413																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(925-927)Gaa>Aaa		doublecortin domain containing 2							190	181	184					6																	24205328		2203	4299	6502	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205328C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.925G>A	6.37:g.24205328C>T	ENSP00000367715:p.Glu309Lys					DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	p.E309K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1226	-		Ovarian(999;0.101)	309					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.925G>A	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023653	0.93462	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.52754	4.19;0.65	6.07	6.07	0.98685	.	0.176882	0.50627	D	0.000116	T	0.60996	0.2312	L	0.55213	1.73	0.48762	D	0.999701	D;D	0.89917	0.988;1.0	P;D	0.76575	0.76;0.988	T	0.57370	-0.7823	10	0.52906	T	0.07	2.4353	20.2697	0.98465	0.0:1.0:0.0:0.0	.	309;62	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	K	309;62	ENSP00000367715:E309K;ENSP00000367711:E62K	ENSP00000367711:E62K	E	-	1	0	DCDC2	24313307	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.098000	0.64548	2.885000	0.99019	0.655000	0.94253	GAA		0.413	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		7	290	0	0	0	1	0	7	290					T	24205328	C	T	24205328	3	4	421	1	0	0	0	0	1	0	0	0	4285	835	29	2	517	2	DCDC2	6	24205328	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	12043630	24205328	146909739	13	36250											
EHMT2	10919	broad.mit.edu	37	chr6	31847952	31847952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgctccagggcaatgGcttcggctgagtgcttgcac	14	12	1	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:31847952G>A	ENST00000375537.4	-	28	3548	c.3542C>T	c.(3541-3543)gCc>gTc	p.A1181V	SLC44A4_ENST00000544672.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.A1238V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000375562.4_5'Flank|SLC44A4_ENST00000465707.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1181					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGCAATGGCTTCGGCTGA	0.592																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3712-3714)gCc>gTc		euchromatic histone-lysine N-methyltransferase 2							61	55	57					6																	31847952		1511	2708	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847952G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3542C>T	6.37:g.31847952G>A	ENSP00000364687:p.Ala1181Val					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1181V|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V	p.A1238V			Q96KQ7	EHMT2_HUMAN			27	3712	-			1181					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3713C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003515	0.93287	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.72167	-0.63;-0.49;-0.43;-0.62	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	L	0.44542	1.39	0.80722	D	1	B;P;B;P	0.38642	0.381;0.641;0.381;0.508	B;B;B;B	0.28232	0.04;0.087;0.026;0.04	T	0.55661	-0.8106	10	0.36615	T	0.2	.	16.9061	0.86128	0.0:0.0:1.0:0.0	.	1204;1147;1181;1002	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	1238;1204;1147;1181;1002	ENSP00000379078:A1238V;ENSP00000364678:A1204V;ENSP00000364680:A1147V;ENSP00000364687:A1181V	ENSP00000364678:A1204V	A	-	2	0	EHMT2	31955931	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.145000	0.94634	2.362000	0.80069	0.561000	0.74099	GCC		0.592	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		40	68	0	0	0	1	0	40	68					A	31847952	G	A	31847952	3	1	421	1	0	0	0	0	1	0	0	0	4984	1203	42	2	94	2	EHMT2	6	31847952	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	7642624	31847952	139267115	14	36251											
DNAH8	1769	broad.mit.edu	37	chr6	38794044	38794044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacatgatagcatttattaaTgaatacttgaaaaagttatc	5	4	0	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:38794044T>A	ENST00000359357.3	+	27	3563	c.3309T>A	c.(3307-3309)aaT>aaA	p.N1103K	DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1103					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						CATTTATTAATGAATACTTGA	0.348																																						ENST00000359357.3																			0				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						c.(3307-3309)aaT>aaA		dynein, axonemal, heavy chain 8							98	96	96					6																	38794044		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38794044T>A	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.3309T>A	6.37:g.38794044T>A	ENSP00000352312:p.Asn1103Lys					DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K|DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K	p.N1103K							27	3563	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3309T>A		.	.	.	.	.	.	.	.	.	.	T	10.59	1.394228	0.25205	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23552	1.94;1.93;1.9	5.33	-1.65	0.08291	.	0.433048	0.25509	N	0.030192	T	0.02929	0.0087	N	0.16478	0.41	0.32998	D	0.525891	B	0.06786	0.001	B	0.06405	0.002	T	0.40327	-0.9569	10	0.08599	T	0.76	.	4.942	0.13971	0.2294:0.3651:0.0:0.4055	.	1103	Q96JB1	DYH8_HUMAN	K	1308;1308;1103;1103	ENSP00000333363:N1308K;ENSP00000352312:N1103K;ENSP00000402294:N1103K	ENSP00000333363:N1308K	N	+	3	2	DNAH8	38902022	0.071000	0.21146	0.996000	0.52242	0.967000	0.64934	-0.242000	0.08928	-0.161000	0.10983	0.378000	0.23410	AAT		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		60	116	0	0	0	1	0	60	116					A	38794044	T	A	38794044	3	1	421	1	0	0	0	0	1	0	0	0	4607	1461	51	5	3407	5	DNAH8	6	38794044	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	6946092	38794044	132321023	15	36252											
UNC5CL	222643	broad.mit.edu	37	chr6	40996229	40996229	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcggaggcgcagtctagCcgctccatgacggtcatgag	15	11	2	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:40996229C>T	ENST00000373164.1	-	8	1500	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	UNC5CL_ENST00000244565.3_Silent_p.R480R|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	480	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCAGTCTAGCCGCTCCATGA	0.682											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1438-1440)cgG>cgA		unc-5 homolog C (C. elegans)-like							39	37	37					6																	40996229		2195	4286	6481	SO:0001819	synonymous_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996229C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"ZU5 and death domain containing"					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1440G>A	6.37:g.40996229C>T			OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Silent_p.R480R	p.R480R	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			9	1528	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		480			Death.		Q5TGU1	Silent	SNP	ENST00000373164.1	37	c.1440G>A	CCDS4847.1																																																																																				0.682	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		4	127	0	0	0	1	0	4	127					T	40996229	C	T	40996229	2	4	421	1	0	0	0	0	0	0	0	1	16991	726	26	2		2	UNC5CL	6	40996229	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	2202185	40996229	130118838	16	36253											
SUPT3H	8464	broad.mit.edu	37	chr6	45073683	45073683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattaactgagtgtgtacCacatcttctaccaaaactgc	5	10	2	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45073683C>T	ENST00000371459.1	-	3	327	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SUPT3H_ENST00000306867.5_Silent_p.V54V|SUPT3H_ENST00000371460.1_Silent_p.V65V|SUPT3H_ENST00000371461.2_Silent_p.V65V	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	136					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGTGTACCACATCTTCTA	0.328																																						ENST00000371460.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						c.(193-195)gtG>gtA		suppressor of Ty 3 homolog (S. cerevisiae)							116	112	113					6																	45073683		2203	4300	6503	SO:0001819	synonymous_variant	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:45073683C>T	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.162G>A	6.37:g.45073683C>T						SUPT3H_ENST00000371459.1_Silent_p.V54V|SUPT3H_ENST00000306867.5_Silent_p.V54V|SUPT3H_ENST00000371461.2_Silent_p.V65V	p.V65V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN			5	512	-			136					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	ENST00000371459.1	37	c.195G>A	CCDS34465.1																																																																																				0.328	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		51	141	0	0	0	1	0	51	141					T	45073683	C	T	45073683	2	4	421	1	0	0	0	0	0	0	0	1	15394	581	21	2		2	SUPT3H	6	45073683	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	4077454	45073683	126041384	17	36254											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	84	0	0	0	1	0	4	84					G	45390466	A	G	45390466	2	3	421	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08	316783	45390466	125724601	18	36255											
STX11	8676	broad.mit.edu	37	chr6	144508016	144508016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcagcagcatcaagcgCgacaccaactccatcgccaa	7	18	2	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:144508016C>T	ENST00000367568.4	+	2	435	c.252C>T	c.(250-252)cgC>cgT	p.R84R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	84					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)		GCATCAAGCGCGACACCAACT	0.647									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(250-252)cgC>cgT		syntaxin 11							28	28	28					6																	144508016		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508016C>T	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.252C>T	6.37:g.144508016C>T							p.R84R	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	435	+			84					E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.252C>T	CCDS5205.1																																																																																				0.647	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			23	33	0	0	0	1	0	23	33					T	144508016	C	T	144508016	2	4	421	1	0	0	0	0	0	0	0	1	15336	755	27	1		1	STX11	6	144508016	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	99117550	144508016	26607051	19	36256											
ETV1	2115	broad.mit.edu	37	chr7	13978772	13978772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcacttttctccatagCtgaatttaaagggctgttct	8	9	2	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:13978772C>T	ENST00000430479.1	-	7	1002	c.335G>A	c.(334-336)aGc>aAc	p.S112N	ETV1_ENST00000403685.1_Missense_Mutation_p.S94N|ETV1_ENST00000405358.4_Missense_Mutation_p.S126N|ETV1_ENST00000405192.2_Missense_Mutation_p.S112N|ETV1_ENST00000399357.3_Missense_Mutation_p.S72N|ETV1_ENST00000242066.5_Missense_Mutation_p.S94N|ETV1_ENST00000420159.2_Missense_Mutation_p.S54N|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Missense_Mutation_p.S112N|ETV1_ENST00000343495.5_Missense_Mutation_p.S94N|ETV1_ENST00000403527.1_Missense_Mutation_p.S72N	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	112					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						TTCTCCATAGCTGAATTTAAA	0.418			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(280-282)aGc>aAc		ets variant 1							182	168	173					7																	13978772		1868	4103	5971	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13978772C>T		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.335G>A	7.37:g.13978772C>T	ENSP00000405327:p.Ser112Asn					ETV1_ENST00000405358.4_Missense_Mutation_p.S126N|ETV1_ENST00000403527.1_Missense_Mutation_p.S72N|ETV1_ENST00000405192.2_Missense_Mutation_p.S112N|ETV1_ENST00000405218.2_Missense_Mutation_p.S112N|ETV1_ENST00000420159.2_Missense_Mutation_p.S54N|ETV1_ENST00000403685.1_Missense_Mutation_p.S94N|ETV1_ENST00000242066.5_Missense_Mutation_p.S94N|ETV1_ENST00000430479.1_Missense_Mutation_p.S112N|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.S72N	p.S94N			P50549	ETV1_HUMAN			6	1019	-			112					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.281G>A	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407017	0.42715	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608;ENST00000421381	T;T;T;T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.45	5.45	0.79879	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.188146	0.64402	D	0.000010	T	0.31295	0.0792	N	0.19112	0.55	0.40518	D	0.9808	B;B;P;D;P;D;B	0.64830	0.425;0.002;0.924;0.992;0.722;0.994;0.004	B;B;P;D;B;D;B	0.72338	0.136;0.003;0.604;0.961;0.338;0.977;0.02	T	0.05852	-1.0860	10	0.14656	T	0.56	.	19.6482	0.95790	0.0:1.0:0.0:0.0	.	123;94;126;54;72;72;112	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	N	112;94;94;54;72;112;126;72;112;94;54;72;112	ENSP00000405327:S112N;ENSP00000242066:S94N;ENSP00000340853:S94N;ENSP00000411626:S54N;ENSP00000382293:S72N;ENSP00000385381:S112N;ENSP00000384085:S126N;ENSP00000384138:S72N;ENSP00000385551:S112N;ENSP00000385686:S94N;ENSP00000393078:S54N;ENSP00000394710:S72N;ENSP00000391043:S112N	ENSP00000242066:S94N	S	-	2	0	ETV1	13945297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.404000	0.66344	2.696000	0.92011	0.655000	0.94253	AGC		0.418	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		6	262	0	0	0	1	0	6	262					T	13978772	C	T	13978772	3	4	421	1	0	0	0	0	1	0	0	0	5277	797	28	2	1130	2	ETV1	7	13978772	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		13978772	145159891	20	36257											
SUN3	256979	broad.mit.edu	37	chr7	48034064	48034064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagcccagcactttcCagggtagacatccggctgga	12	11	0	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:48034064C>T	ENST00000297325.4	-	8	868	c.709G>A	c.(709-711)Gga>Aga	p.G237R	SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R|SUN3_ENST00000453192.2_Missense_Mutation_p.G225R|SUN3_ENST00000412142.1_Missense_Mutation_p.G137R	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	237	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCACTTTCCAGGGTAGACA	0.438																																						ENST00000453192.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(673-675)Gga>Aga		Sad1 and UNC84 domain containing 3							121	120	120					7																	48034064		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48034064C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"Sad1 and UNC84 domain containing 1"	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.709G>A	7.37:g.48034064C>T	ENSP00000297325:p.Gly237Arg					SUN3_ENST00000412142.1_Missense_Mutation_p.G137R|SUN3_ENST00000297325.4_Missense_Mutation_p.G237R|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R	p.G225R			Q8TAQ9	SUN3_HUMAN			9	916	-			237			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.673G>A	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778677	0.90195	.	.	ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.45	5.45	0.79879	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.996;0.93;1.0	D	0.84243	0.0473	10	0.87932	D	0	.	16.9474	0.86233	0.0:1.0:0.0:0.0	.	225;137;237	E7EWC8;Q8TAQ9-2;Q8TAQ9	.;.;SUN3_HUMAN	R	237;59;137;237;225;137	ENSP00000297325:G237R;ENSP00000406887:G59R;ENSP00000410204:G137R;ENSP00000378939:G237R;ENSP00000387525:G225R;ENSP00000409077:G137R	ENSP00000297325:G237R	G	-	1	0	SUN3	48000589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.374000	0.79633	2.602000	0.87976	0.551000	0.68910	GGA		0.438	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		19	201	0	0	0	1	0	19	201					T	48034064	C	T	48034064	3	4	421	1	0	0	0	0	1	0	0	0	15390	603	21	2	376	2	SUN3	7	48034064	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	34055292	48034064	111104599	21	36258											
TFR2	7036	broad.mit.edu	37	chr7	100230653	100230653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgatcacccccacgcGcaccagcagcaggcggccca	11	18	1	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100230653G>A	ENST00000462107.1	-	7	1107	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	274					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	ACCCCCACGCGCACCAGCAGC	0.677																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(820-822)Cgc>Tgc		transferrin receptor 2							68	78	74					7																	100230653		2200	4295	6495	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230653G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.820C>T	7.37:g.100230653G>A	ENSP00000420525:p.Arg274Cys					TFR2_ENST00000431692.1_Missense_Mutation_p.R274C|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000544242.1_5'UTR	p.R274C			Q9UP52	TFR2_HUMAN			7	1107	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		274					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.820C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473866	0.84640	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.56275	0.47;0.47;0.47	6.04	6.04	0.98038	Protease-associated domain, PA (1);	0.068447	0.64402	D	0.000012	T	0.79862	0.4519	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	D	0.84734	0.0747	10	0.87932	D	0	-22.3494	18.073	0.89417	0.0:0.0:1.0:0.0	.	274	Q9UP52	TFR2_HUMAN	C	274	ENSP00000223051:R274C;ENSP00000413905:R274C;ENSP00000420525:R274C	ENSP00000223051:R274C	R	-	1	0	TFR2	100068589	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.562000	0.60816	2.873000	0.98535	0.561000	0.74099	CGC		0.677	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		5	288	0	0	0	1	0	5	288					A	100230653	G	A	100230653	3	1	421	1	0	0	0	0	1	0	0	0	15808	1087	38	1	1637	1	TFR2	7	100230653	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	52196589	100230653	58908010	22	36259											
ZNF800	168850	broad.mit.edu	37	chr7	127013897	127013897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttagtcaagttctgtTtggaagtaaactgacgttta	10	4	2	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:127013897T>C	ENST00000393313.1	-	5	2084	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R|ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	498					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						CAAGTTCTGTTTGGAAGTAAA	0.378																																						ENST00000393313.1																			0				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						c.(1492-1494)aAa>aGa		zinc finger protein 800							65	59	61					7																	127013897		2203	4299	6502	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013897T>C	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.1493A>G	7.37:g.127013897T>C	ENSP00000376989:p.Lys498Arg					ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R|ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R	p.K498R			Q2TB10	ZN800_HUMAN			5	2084	-			498					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1493A>G	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	T	4.970	0.180235	0.09443	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.22134	1.97;1.97;1.97	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.101084	0.64402	D	0.000003	T	0.16257	0.0391	N	0.21508	0.67	0.30226	N	0.796324	B;B	0.28291	0.206;0.206	B;B	0.28916	0.096;0.096	T	0.22277	-1.0221	8	.	.	.	-3.5564	15.6508	0.77091	0.0:0.0:0.0:1.0	.	401;498	B7Z4V7;Q2TB10	.;ZN800_HUMAN	R	498	ENSP00000376989:K498R;ENSP00000265827:K498R;ENSP00000376988:K498R	.	K	-	2	0	ZNF800	126801133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.289000	0.77006	0.482000	0.46254	AAA		0.378	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		78	114	0	0	0	1	0	78	114					C	127013897	T	C	127013897	3	2	421	1	0	0	0	0	1	0	0	0	18166	1841	64	3	509	3	ZNF800	7	127013897	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	26783244	127013897	32124766	23	36260											
PCM1	5108	broad.mit.edu	37	chr8	17815110	17815110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacaaggtgaagatgatgaGgaggaggaggaagaagcaga	18	3	0	6	rs368148186|rs556667613	byFrequency	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:17815110G>T	ENST00000519253.1	+	13	2117	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	PCM1_ENST00000524226.1_Missense_Mutation_p.E623D|PCM1_ENST00000325083.8_Missense_Mutation_p.E622D			Q15154	PCM1_HUMAN	pericentriolar material 1	622					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)	p.E622D(1)	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)		aagatgatgaggaggaggagg	0.418			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								G|||	5	0.000998403	0.003	0.0	5008	,	,		19329	0.0		0.0	False		,,,				2504	0.001					ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	1	Substitution - Missense(1)	p.E622D(1)	large_intestine(1)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(1864-1866)gaG>gaT		pericentriolar material 1		G	ASP/GLU	3,4055		0,3,2026	58	58	58		1866	-1.1	1	8		58	1,8379		0,1,4189	no	missense	PCM1	NM_006197.3	45	0,4,6215	TT,TG,GG		0.0119,0.0739,0.0322	benign	622/2025	17815110	4,12434	2029	4190	6219	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17815110G>T		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.1866G>T	8.37:g.17815110G>T	ENSP00000431099:p.Glu622Asp					PCM1_ENST00000524226.1_Missense_Mutation_p.E623D|PCM1_ENST00000519253.1_Missense_Mutation_p.E622D	p.E622D	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	13	2305	+			622					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1866G>T		.	.	.	.	.	.	.	.	.	.	G	9.406	1.079303	0.20227	7.39E-4	1.19E-4	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.12147	3.6;2.71;3.6;3.33	4.88	-1.13	0.09775	.	0.484213	0.22651	N	0.057322	T	0.08537	0.0212	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.14012	0.009;0.001;0.009;0.009	B;B;B;B	0.16722	0.016;0.007;0.011;0.016	T	0.31194	-0.9952	10	0.18276	T	0.48	-3.1996	0.7756	0.01031	0.2532:0.3181:0.2112:0.2175	.	622;661;623;622	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	D	622;661;622;623	ENSP00000327077:E622D;ENSP00000428131:E661D;ENSP00000431099:E622D;ENSP00000430521:E623D	ENSP00000327077:E622D	E	+	3	2	PCM1	17859390	0.010000	0.17322	0.981000	0.43875	0.962000	0.63368	-0.397000	0.07269	-0.337000	0.08426	0.585000	0.79938	GAG		0.418	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	22	1	0	0.115264	1	0.116934	3	22					T	17815110	G	T	17815110	3	4	421	1	0	0	0	0	1	0	0	0	11584	991	35	4	1908	4	PCM1	8	17815110	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		17815110	128548912	24	36261											
ZFPM2	23414	broad.mit.edu	37	chr8	106814286	106814286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctccacctccagtaacaAtgatgacaaaattaatggaa	6	10	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:106814286A>G	ENST00000407775.2	+	8	2226	c.1976A>G	c.(1975-1977)aAt>aGt	p.N659S	ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	659					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)			TCCAGTAACAATGATGACAAA	0.423																																						ENST00000407775.2																			0				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						c.(1975-1977)aAt>aGt		zinc finger protein, FOG family member 2							61	57	58					8																	106814286		1868	4104	5972	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814286A>G	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.1976A>G	8.37:g.106814286A>G	ENSP00000384179:p.Asn659Ser					RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.N659S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2226	+			659					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1976A>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.249026	0.00268	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.18016	2.24;2.72;2.72;3.93	5.57	-8.22	0.01037	.	0.788887	0.12787	N	0.439199	T	0.08268	0.0206	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38564	-0.9655	10	0.07644	T	0.81	.	21.476	0.99954	0.2639:0.0:0.7361:0.0	.	659	Q8WW38	FOG2_HUMAN	S	659;527;527;390	ENSP00000384179:N659S;ENSP00000430757:N527S;ENSP00000428720:N527S;ENSP00000367733:N390S	ENSP00000367733:N390S	N	+	2	0	ZFPM2	106883462	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-1.479000	0.02327	-1.643000	0.01519	-1.144000	0.01866	AAT		0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	38	0	0	0	1	0	24	38					G	106814286	A	G	106814286	3	3	421	1	0	0	0	0	1	0	0	0	17655	101	4	3	2006	3	ZFPM2	8	106814286	Missense_Mutation	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08	88999176	106814286	39549736	25	36262											
RAD21	5885	broad.mit.edu	37	chr8	117866545	117866545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaacagtttttctactcctCctgtctctttccacatcatc	2	14	3	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:117866545C>A	ENST00000297338.2	-	9	1387	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523547.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	367	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				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)					TTCTACTCCTCCTGTCTCTTT	0.368																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(1099-1101)gGa>gTa		RAD21 homolog (S. pombe)							104	105	105					8																	117866545		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117866545C>A	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.1100G>T	8.37:g.117866545C>A	ENSP00000297338:p.Gly367Val						p.G367V	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			9	1387	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		367			Interaction with STAG1.|Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1100G>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700527	0.88924	.	.	ENSG00000164754	ENST00000297338	D	0.86230	-2.09	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.94082	0.8103	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93192	0.6584	10	0.42905	T	0.14	-5.2058	19.6983	0.96039	0.0:1.0:0.0:0.0	.	367	O60216	RAD21_HUMAN	V	367	ENSP00000297338:G367V	ENSP00000297338:G367V	G	-	2	0	RAD21	117935726	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	7.818000	0.86416	2.669000	0.90835	0.460000	0.39030	GGA		0.368	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		82	111	1	0	1.75807e-36	1	1.92289e-36	82	111					A	117866545	C	A	117866545	3	1	421	1	0	0	0	0	1	0	0	0	12981	855	30	4	819	4	RAD21	8	117866545	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	11052259	117866545	28497477	26	36263											
FER1L6	654463	broad.mit.edu	37	chr8	125078688	125078688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccaggaagccttcccGgaggtccactaagaggagaa	13	11	0	2	rs369018172		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:125078688G>A	ENST00000522917.1	+	27	3781	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1192						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCCTTCCCGGAGGTCCACT	0.493																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3574-3576)cGg>cAg		fer-1-like 6 (C. elegans)		G	GLN/ARG	1,3781		0,1,1890	238	234	235		3575	5.6	1	8		235	0,8240		0,0,4120	no	missense	FER1L6	NM_001039112.2	43	0,1,6010	AA,AG,GG		0.0,0.0264,0.0083	possibly-damaging	1192/1858	125078688	1,12021	1891	4120	6011	SO:0001583	missense	654463					integral to membrane		g.chr8:125078688G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3575G>A	8.37:g.125078688G>A	ENSP00000428280:p.Arg1192Gln					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		27	3781	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1192						Missense_Mutation	SNP	ENST00000522917.1	37	c.3575G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112210	0.77210	2.64E-4	0.0	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81330	-1.48;-1.48	5.6	5.6	0.85130	.	2.714650	0.01760	U	0.030510	T	0.76111	0.3942	N	0.14661	0.345	0.58432	D	0.999999	D	0.67145	0.996	P	0.45119	0.47	T	0.66881	-0.5811	10	0.15499	T	0.54	-10.9629	19.2042	0.93723	0.0:0.0:1.0:0.0	.	1192	Q2WGJ9	FR1L6_HUMAN	Q	1192	ENSP00000428280:R1192Q;ENSP00000381982:R1192Q	ENSP00000381982:R1192Q	R	+	2	0	FER1L6	125147869	1.000000	0.71417	0.976000	0.42696	0.408000	0.30992	5.125000	0.64715	2.650000	0.89964	0.655000	0.94253	CGG		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		176	261	0	0	0	1	0	176	261					A	125078688	G	A	125078688	3	1	421	1	0	0	0	0	1	0	0	0	5815	1116	39	1	3677	1	FER1L6	8	125078688	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	7212143	125078688	21285334	27	36264											
C9orf79	286234	broad.mit.edu	37	chr9	90500146	90500146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctccttcaccacagccGcatggtcccctggcctcctc	6	20	1	0	rs370494405		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:90500146G>A	ENST00000325643.5	+	4	810	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	248	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P248P(1)									CACCACAGCCGCATGGTCCCC	0.627																																						ENST00000325643.5																			1	Substitution - coding silent(1)	p.P248P(1)	lung(1)								c.(742-744)ccG>ccA		SPATA31 subfamily E, member 1							84	91	88					9																	90500146		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90500146G>A	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.744G>A	9.37:g.90500146G>A							p.P248P	NM_178828.4	NP_849150.3					4	810	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.744G>A	CCDS6676.1																																																																																				0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		5	229	0	0	0	1	0	5	229					A	90500146	G	A	90500146	2	1	421	1	0	0	0	0	0	0	0	1	2497	1074	38	1		1	C9orf79	9	90500146	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		90500146	50713285	28	36265											
TNC	3371	broad.mit.edu	37	chr9	117826999	117826999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagatggagactgtataaggCgtagcagccttgaggcccgg	15	8	0	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr9:117826999C>T	ENST00000350763.4	-	11	3825	c.3414G>A	c.(3412-3414)acG>acA	p.T1138T	TNC_ENST00000341037.4_Silent_p.T1138T|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Silent_p.T1138T|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1138	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGTATAAGGCGTAGCAGCCT	0.552																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3412-3414)acG>acA		tenascin C							144	143	143					9																	117826999		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117826999C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3414G>A	9.37:g.117826999C>T						TNC_ENST00000423613.2_Silent_p.T1138T|TNC_ENST00000341037.4_Silent_p.T1138T|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron	p.T1138T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			11	3825	-			1138			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.3414G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	c	5.326	0.245411	0.10077	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.49	-2.29	0.06805	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34800	-0.9814	4	.	.	.	.	0.4237	0.00460	0.3276:0.1231:0.201:0.3483	.	.	.	.	T	65	.	.	A	-	1	0	TNC	116866820	0.000000	0.05858	0.988000	0.46212	0.596000	0.36781	-1.202000	0.03023	-0.112000	0.11979	-1.378000	0.01179	GCC		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	370	0	0	0	1	0	5	370					T	117826999	C	T	117826999	2	4	421	1	0	0	0	0	0	0	0	1	16267	755	27	1		1	TNC	9	117826999	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	27326853	117826999	23386432	29	36266											
OR4C46	119749	broad.mit.edu	37	chr11	51515348	51515348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaatccaaagatgcagAaaatcatatttgttgtgttt	8	5	1	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:51515348A>G	ENST00000328188.1	+	1	67	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AAAGATGCAGAAAATCATATT	0.408																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(67-69)Aaa>Gaa		olfactory receptor, family 4, subfamily C, member 46							172	163	166					11																	51515348		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515348A>G		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.67A>G	11.37:g.51515348A>G	ENSP00000329056:p.Lys23Glu						p.K23E	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	67	+			23						Missense_Mutation	SNP	ENST00000328188.1	37	c.67A>G	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.389	0.439949	0.12104	.	.	ENSG00000185926	ENST00000328188	T	0.00433	7.43	2.63	2.63	0.31362	.	0.212592	0.23268	U	0.050055	T	0.00384	0.0012	M	0.66297	2.02	0.20489	N	0.999891	B	0.12630	0.006	B	0.21151	0.033	T	0.44817	-0.9303	10	0.59425	D	0.04	.	4.5179	0.11945	0.8404:0.0:0.1596:0.0	.	23	A6NHA9	O4C46_HUMAN	E	23	ENSP00000329056:K23E	ENSP00000329056:K23E	K	+	1	0	OR4C46	51371924	0.000000	0.05858	0.725000	0.30721	0.147000	0.21601	-0.317000	0.08060	1.239000	0.43787	0.113000	0.15668	AAA		0.408	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		5	247	0	0	0	1	0	5	247					G	51515348	A	G	51515348	3	3	421	1	0	0	0	0	1	0	0	0	11051	247	9	3	69	3	OR4C46	11	51515348	Missense_Mutation	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08		51515348	83491168	30	36267											
OR5J2	282775	broad.mit.edu	37	chr11	55944704	55944704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgctgttaaccttctccgGagtcattgccatggccacct	9	13	2	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:55944704G>A	ENST00000312298.1	+	1	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTTCTCCGGAGTCATTGCC	0.468																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(610-612)gGa>gAa		olfactory receptor, family 5, subfamily J, member 2							169	129	143					11																	55944704		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944704G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.611G>A	11.37:g.55944704G>A	ENSP00000310788:p.Gly204Glu						p.G204E	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	611	+	Esophageal squamous(21;0.00693)		204					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.611G>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348950	0.24426	.	.	ENSG00000174957	ENST00000312298	T	0.38401	1.14	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.240868	0.29059	N	0.013277	T	0.64527	0.2606	M	0.90977	3.165	0.09310	N	1	D	0.67145	0.996	D	0.68621	0.959	T	0.60915	-0.7168	10	0.87932	D	0	.	12.0987	0.53769	0.0:0.0:0.8273:0.1727	.	204	Q8NH18	OR5J2_HUMAN	E	204	ENSP00000310788:G204E	ENSP00000310788:G204E	G	+	2	0	OR5J2	55701280	0.000000	0.05858	0.035000	0.18076	0.001000	0.01503	0.091000	0.15046	2.263000	0.75096	0.591000	0.81541	GGA		0.468	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		16	237	0	0	0	1	0	16	237					A	55944704	G	A	55944704	3	1	421	1	0	0	0	0	1	0	0	0	11165	1174	41	2	613	2	OR5J2	11	55944704	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	4429356	55944704	79061812	31	36268											
CHRM1	1128	broad.mit.edu	37	chr11	62677783	62677783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcctgggggcccGgcagcagcgacagcagcggc	17	15	0	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:62677783G>A	ENST00000306960.3	-	2	1331	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	264					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CTGGGGGCCCGGCAGCAGCGA	0.657																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(790-792)Cgg>Tgg		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)																																			SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677783G>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.790C>T	11.37:g.62677783G>A	ENSP00000306490:p.Arg264Trp					AP000438.2_ENST00000543624.1_RNA	p.R264W	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	1331	-			264					Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.790C>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785477	0.16189	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.60548	0.21;0.18	4.72	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.429938	0.18600	N	0.136479	T	0.44871	0.1314	L	0.48362	1.52	0.26108	N	0.98072	B	0.06786	0.001	B	0.01281	0.0	T	0.41124	-0.9526	10	0.62326	D	0.03	-12.9274	6.6667	0.23044	0.0914:0.0:0.4721:0.4365	.	264	P11229	ACM1_HUMAN	W	264	ENSP00000306490:R264W;ENSP00000441188:R264W	ENSP00000306490:R264W	R	-	1	2	CHRM1	62434359	0.507000	0.26146	0.533000	0.28001	0.796000	0.44982	0.774000	0.26675	0.176000	0.19873	-0.261000	0.10672	CGG		0.657	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		9	183	0	0	0	1	0	9	183					A	62677783	G	A	62677783	3	1	421	1	0	0	0	0	1	0	0	0	3376	1115	39	1	596	1	CHRM1	11	62677783	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	6733079	62677783	72328733	32	36269											
POLA2	23649	broad.mit.edu	37	chr11	65055248	65055248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacatctgacagcatcacGtatgaccccctgcttgacct	6	16	2	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:65055248G>A	ENST00000265465.3	+	11	1599	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	POLA2_ENST00000541089.1_Silent_p.T148T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	356					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)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACAGCATCACGTATGACCCCC	0.507																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(1066-1068)acG>acA		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						175	128	144					11																	65055248		2201	4297	6498	SO:0001819	synonymous_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65055248G>A	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1068G>A	11.37:g.65055248G>A						POLA2_ENST00000541089.1_Silent_p.T148T	p.T356T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			11	1599	+			356					B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	c.1068G>A	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	G	0.826	-0.746811	0.03065	.	.	ENSG00000014138	ENST00000525924	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40608	-0.9554	4	.	.	.	-11.7544	1.567	0.02606	0.3441:0.3134:0.1174:0.2251	.	.	.	.	H	26	.	.	R	+	2	0	POLA2	64811824	0.000000	0.05858	0.004000	0.12327	0.143000	0.21401	-3.138000	0.00587	-2.783000	0.00359	-0.794000	0.03295	CGT		0.507	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		55	69	0	0	0	1	0	55	69					A	65055248	G	A	65055248	2	1	421	1	0	0	0	0	0	0	0	1	12188	1132	40	1		1	POLA2	11	65055248	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	2377465	65055248	69951268	33	36270											
MLL2	8085	broad.mit.edu	37	chr12	49420721	49420721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgctccataaactctgCcacttcccgctcatcctcct	4	18	2	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:49420721C>T	ENST00000301067.7	-	48	15027	c.15028G>A	c.(15028-15030)Gca>Aca	p.A5010T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5010					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)										ATAAACTCTGCCACTTCCCGC	0.607																																						ENST00000301067.7																			0											c.(15028-15030)Gca>Aca		lysine (K)-specific methyltransferase 2D							54	59	57					12																	49420721		2157	4261	6418	SO:0001583	missense	8085							g.chr12:49420721C>T	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.15028G>A	12.37:g.49420721C>T	ENSP00000301067:p.Ala5010Thr						p.A5010T	NM_003482.3	NP_003473.3					48	15027	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15028G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974672	0.34848	.	.	ENSG00000167548	ENST00000301067	T	0.78924	-1.22	4.01	4.01	0.46588	.	0.000000	0.36303	N	0.002670	T	0.62490	0.2432	N	0.14661	0.345	0.32293	N	0.566049	P	0.47762	0.9	B	0.42112	0.376	T	0.73474	-0.3971	10	0.87932	D	0	.	10.8046	0.46509	0.1895:0.8105:0.0:0.0	.	5010	O14686	MLL2_HUMAN	T	5010	ENSP00000301067:A5010T	ENSP00000301067:A5010T	A	-	1	0	MLL2	47706988	0.386000	0.25180	1.000000	0.80357	0.998000	0.95712	2.821000	0.48065	2.250000	0.74265	0.655000	0.94253	GCA		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			48	91	0	0	0	1	0	48	91					T	49420721	C	T	49420721	3	4	421	1	0	0	0	0	1	0	0	0	9621	739	26	2	1613	2	MLL2	12	49420721	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		49420721	84431174	34	36271											
KRT6B	3854	broad.mit.edu	37	chr12	52843396	52843396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggatgtgtctgagatgtGggtctgcatctgggacagct	15	8	3	1	rs142625176		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:52843396G>A	ENST00000252252.3	-	5	981	c.934C>T	c.(934-936)Cac>Tac	p.H312Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	312	Linker 12.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.H312N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTGAGATGTGGGTCTGCATC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24512	0.0		0.0	False		,,,				2504	0.0					ENST00000252252.3																			1	Substitution - Missense(1)	p.H312N(1)	lung(1)	NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(934-936)Cac>Tac		keratin 6B							129	118	122					12																	52843396		2203	4297	6500	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843396G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.934C>T	12.37:g.52843396G>A	ENSP00000252252:p.His312Tyr						p.H312Y	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	981	-			312			Linker 12.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.934C>T	CCDS8828.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.28	2.188906	0.38707	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.88896	-2.44	3.05	1.11	0.20524	Filament (1);	0.204155	0.34750	N	0.003719	D	0.88749	0.6521	M	0.88181	2.935	0.32732	N	0.50886	B	0.30870	0.298	B	0.32624	0.149	D	0.87651	0.2528	10	0.87932	D	0	.	7.6827	0.28524	0.0909:0.0:0.7476:0.1615	.	312	P04259	K2C6B_HUMAN	Y	312;272	ENSP00000252252:H312Y	ENSP00000252252:H312Y	H	-	1	0	KRT6B	51129663	1.000000	0.71417	0.975000	0.42487	0.759000	0.43091	5.286000	0.65639	0.313000	0.23062	0.298000	0.19748	CAC		0.512	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		109	173	0	0	0	1	0	109	173					A	52843396	G	A	52843396	3	1	421	1	0	0	0	0	1	0	0	0	8481	1348	47	2	780	2	KRT6B	12	52843396	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	3422675	52843396	81008499	35	36272											
KIF26A	26153	broad.mit.edu	37	chr14	104643172	104643172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagggtctggctcccaaGgcgggcttcctcccgaggcc	14	14	1	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:104643172G>A	ENST00000423312.2	+	12	4047	c.4047G>A	c.(4045-4047)aaG>aaA	p.K1349K	KIF26A_ENST00000315264.7_Silent_p.K1210K	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1349					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCTCCCAAGGCGGGCTTCC	0.736																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3628-3630)aaG>aaA		kinesin family member 26A							4	5	5					14																	104643172		1756	3907	5663	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104643172G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4047G>A	14.37:g.104643172G>A						KIF26A_ENST00000423312.2_Silent_p.K1349K	p.K1210K			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	4008	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1349					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.3630G>A	CCDS45171.1																																																																																				0.736	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			4	7	0	0	0	1	0	4	7					A	104643172	G	A	104643172	2	1	421	1	0	0	0	0	0	0	0	1	8294	991	35	2		2	KIF26A	14	104643172	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		104643172	2706368	36	36273											
TCF12	6938	broad.mit.edu	37	chr15	57565278	57565280	+	In_Frame_Del	DEL	AGA	AGA	-													tgaacagaagatagaaagggAgaaggagaggcggatggcta					rs78462051		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:57565278_57565280delAGA	ENST00000267811.5	+	18	2028_2030	c.1724_1726delAGA	c.(1723-1728)gagaag>gag	p.K576del	TCF12_ENST00000559703.1_In_Frame_Del_p.K233del|TCF12_ENST00000543579.1_In_Frame_Del_p.K430del|TCF12_ENST00000537840.1_In_Frame_Del_p.K340del|TCF12_ENST00000559710.1_In_Frame_Del_p.K210del|TCF12_ENST00000557843.1_In_Frame_Del_p.K576del|TCF12_ENST00000452095.2_In_Frame_Del_p.K596del|TCF12_ENST00000438423.2_In_Frame_Del_p.K600del|TCF12_ENST00000333725.5_In_Frame_Del_p.K600del|TCF12_ENST00000343827.3_In_Frame_Del_p.K406del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	576					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATAGAAAGGGAGAAGGAGAGGCG	0.414			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1723-1728)gag>g		transcription factor 12																																				SO:0001651	inframe_deletion	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565278_57565280delAGA	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1724_1726delAGA	15.37:g.57565278_57565280delAGA	ENSP00000267811:p.Lys576del					TCF12_ENST00000452095.2_In_Frame_Del_p.EK595del|TCF12_ENST00000543579.1_In_Frame_Del_p.EK429del|TCF12_ENST00000333725.5_In_Frame_Del_p.EK599del|TCF12_ENST00000557843.1_In_Frame_Del_p.EK575del|TCF12_ENST00000343827.3_In_Frame_Del_p.EK405del|TCF12_ENST00000438423.2_In_Frame_Del_p.EK599del|TCF12_ENST00000559710.1_In_Frame_Del_p.EK209del|TCF12_ENST00000559703.1_In_Frame_Del_p.EK232del|TCF12_ENST00000537840.1_In_Frame_Del_p.EK339del	p.EK575del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2028_2030	+		Colorectal(260;0.0907)	575					Q7Z3D9|Q86TC1|Q86VM2	In_Frame_Del	DEL	ENST00000267811.5	37	c.1724_1726delAGA	CCDS10159.1																																																																																				0.414	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		14	35						14	35	---	---	---	---	-	57565280	AGA	-	57565278	7	5	421	1	0	1	0	1	0	0	0	0	15684	304	11	0	1939	0	TCF12	15	57565278	In_Frame_Del	DEL	AGA	TCGA-S9-A6U2-01A-21D-A33T-08		57565278	44966114	37	36274											
HCN4	10021	broad.mit.edu	37	chr15	73615044	73615064	+	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	CCCACTGCCCCCGCTGCCACC	-													ggaccgaggcccccgctgctCccactgcccccgctgccacc							TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENST00000261917.3	-	8	4363_4383	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	c.(3370-3390)ggtggcagcgggggcagtgggdel	p.GGSGGSG1124del		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1124					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)		CCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTG	0.71																																						ENST00000261917.3																			0				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						c.(3370-3390)del		hyperpolarization activated cyclic nucleotide-gated potassium channel 4																																				SO:0001651	inframe_deletion	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	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.3370_3390delGGTGGCAGCGGGGGCAGTGGG	15.37:g.73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENSP00000261917:p.Gly1124_Gly1130del						p.GGSGGSG1124del	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4363_4383	-			1124					Q9UMQ7	In_Frame_Del	DEL	ENST00000261917.3	37	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	CCDS10248.1																																																																																				0.71	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		6	4						6	4	---	---	---	---	-	73615064	CCCACTGCCCCCGCTGCCACC	-	73615044	7	5	421	1	0	1	0	1	0	0	0	0	6999	842	30	0	225	0	HCN4	15	73615044	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	TCGA-S9-A6U2-01A-21D-A33T-08	16049766	73615044	28916348	38	36275											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	708						7	708	---	---	---	---	-	68718504	A	-	68718504	7	5	421	1	0	1	0	1	0	0	0	0	3111	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-S9-A6U2-01A-21D-A33T-08		68718504	21636249	39	36276											
WWP2	11060	broad.mit.edu	37	chr16	69874117	69874117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaattttcctggacggGccaactgttgatctgggaaa	11	9	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:69874117G>A	ENST00000359154.2	+	5	530	c.429G>A	c.(427-429)ggG>ggA	p.G143G	WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000542271.1_Silent_p.G27G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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 transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGGACGGGCCAACTGTTG	0.592																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(427-429)ggG>ggA		WW domain containing E3 ubiquitin protein ligase 2							112	92	99					16																	69874117		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874117G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.429G>A	16.37:g.69874117G>A						WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000542271.1_Silent_p.G27G|WWP2_ENST00000544162.1_3'UTR	p.G143G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			5	530	+			143					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.429G>A	CCDS10885.1																																																																																				0.592	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		4	191	0	0	0	1	0	4	191					A	69874117	G	A	69874117	2	1	421	1	0	0	0	0	0	0	0	1	17413	1190	42	2		2	WWP2	16	69874117	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	1155613	69874117	20480636	40	36277											
PITPNM3	83394	broad.mit.edu	37	chr17	6364830	6364830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcttctgcatgtccgGccgtcccgtgatgtaaagga	12	13	1	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:6364830G>A	ENST00000262483.8	-	18	2440	c.2353C>T	c.(2353-2355)Ccg>Tcg	p.P785S	PITPNM3_ENST00000421306.3_Missense_Mutation_p.P749S|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	785					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)		TGCATGTCCGGCCGTCCCGTG	0.607																																						ENST00000262483.8																			0											c.(2353-2355)Ccg>Tcg									172	156	161					17																	6364830		2203	4300	6503	SO:0001583	missense	0							g.chr17:6364830G>A	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.2353C>T	17.37:g.6364830G>A	ENSP00000262483:p.Pro785Ser					ACKR6_ENST00000421306.3_Missense_Mutation_p.P749S|ACKR6_ENST00000576664.1_5'UTR	p.P785S	NM_031220.3	NP_112497.2					18	2440	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2353C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770556	0.90108	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.75477	-0.94;-0.94	4.94	4.94	0.65067	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	M	0.90650	3.135	0.80722	D	1	D;P	0.58620	0.983;0.565	D;B	0.67900	0.954;0.239	D	0.90609	0.4550	10	0.87932	D	0	.	15.6383	0.76973	0.0:0.0:1.0:0.0	.	749;785	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	785;749	ENSP00000262483:P785S;ENSP00000407882:P749S	ENSP00000262483:P785S	P	-	1	0	PITPNM3	6305554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.713000	0.98740	2.293000	0.77203	0.462000	0.41574	CCG		0.607	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		5	269	0	0	0	1	0	5	269					A	6364830	G	A	6364830	3	1	421	1	0	0	0	0	1	0	0	0	11952	1203	42	2	583	2	PITPNM3	17	6364830	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		6364830	74830380	41	36278											
KCNH4	23415	broad.mit.edu	37	chr17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtaggggacggtgaccGcaacgtagaaggtggcaagg	17	7	0	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	241					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)		GACGGTGACCGCAACGTAGAA	0.602																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(721-723)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 4							141	114	123					17																	40328179		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328179G>A	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.722C>T	17.37:g.40328179G>A	ENSP00000264661:p.Ala241Val					KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1054	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	241						Missense_Mutation	SNP	ENST00000264661.3	37	c.722C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891215	0.97074	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.45	5.45	0.79879	.	0.000000	0.40554	N	0.001070	D	0.98454	0.9485	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	D	0.99170	1.0864	10	0.87932	D	0	.	19.4711	0.94963	0.0:0.0:1.0:0.0	.	241	Q9UQ05	KCNH4_HUMAN	V	241	ENSP00000264661:A241V	ENSP00000264661:A241V	A	-	2	0	KCNH4	37581705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.840000	0.97914	0.655000	0.94253	GCG		0.602	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		5	283	0	0	0	1	0	5	283					A	40328179	G	A	40328179	3	1	421	1	0	0	0	0	1	0	0	0	8034	1087	38	1	2379	1	KCNH4	17	40328179	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	33963349	40328179	40867031	42	36279											
ENGASE	64772	broad.mit.edu	37	chr17	77078145	77078145	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgattcgacacagacaaGgtgggtggtggctttcgtcc	15	10	0	1	rs377404114		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:77078145G>A	ENST00000579016.1	+	7	1038	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	ENGASE_ENST00000584568.1_3'UTR|ENGASE_ENST00000539857.2_Silent_p.K160K	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	346	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACACAGACAAGGTGGGTGGTG	0.627																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.e7+1		endo-beta-N-acetylglucosaminidase							81	106	98					17																	77078145		2128	4231	6359	SO:0001630	splice_region_variant	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77078145G>A	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1038+1G>A	17.37:g.77078145G>A						ENGASE_ENST00000539857.2_Silent_p.K160K|ENGASE_ENST00000584568.1_3'UTR	p.K346_splice	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			7	1038	+			346			BRCT.		Q659F0|Q8TB86|Q9H6U4	Splice_Site	SNP	ENST00000579016.1	37	c.1038_splice	CCDS42394.1																																																																																				0.627	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Silent	65	98	0	0	0	1	0	65	98					A	77078145	G	A	77078145	5	1	421	1	0	0	0	0	0	0	1	0	5118	1014	35	2	1064	2	ENGASE	17	77078145	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	36749966	77078145	4117065	43	36280											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	13	13	0	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000572681.2_Missense_Mutation_p.R1110W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		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)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	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						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65	70	68					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	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.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			64	45	0	0	0	1	0	64	45					T	42791715	C	T	42791715	3	4	421	1	0	0	0	0	1	0	0	0	3424	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		42791715	16337268	44	36281											
C20orf54	113278	broad.mit.edu	37	chr20	744337	744337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgccgggcagcaggggGctgctttctcctctagatac	15	12	2	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr20:744337G>A	ENST00000217254.7	-	3	1119	c.878C>T	c.(877-879)gCc>gTc	p.A293V	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.A293V	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	293					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GCAGCAGGGGGCTGCTTTCTC	0.647																																						ENST00000381944.3																			0											c.(877-879)gCc>gTc		solute carrier family 52 (riboflavin transporter), member 3							64	60	61					20																	744337		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744337G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.878C>T	20.37:g.744337G>A	ENSP00000217254:p.Ala293Val					SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.A293V	p.A293V			Q9NQ40	RFT2_HUMAN			3	1119	-			293					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.878C>T	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536388	0.27475	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.72615	-0.62;-0.67	4.84	2.77	0.32553	.	0.546084	0.19220	N	0.119697	T	0.46756	0.1409	N	0.08118	0	0.09310	N	1	B;B	0.21071	0.051;0.03	B;B	0.22753	0.041;0.01	T	0.29610	-1.0006	10	0.25106	T	0.35	-15.2583	8.2478	0.31700	0.085:0.3028:0.6122:0.0	.	293;293	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	V	293	ENSP00000217254:A293V;ENSP00000371370:A293V	ENSP00000217254:A293V	A	-	2	0	C20orf54	692337	0.000000	0.05858	0.008000	0.14137	0.163000	0.22366	0.435000	0.21510	0.403000	0.25479	0.561000	0.74099	GCC		0.647	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		37	81	0	0	0	1	0	37	81					A	744337	G	A	744337	3	1	421	1	0	0	0	0	1	0	0	0	2114	1203	42	2	543	2	C20orf54	20	744337	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		744337	62281183	45	36282											
BCR	613	broad.mit.edu	37	chr22	23656796	23656796	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaacctcgccacggtcttTggccccacgctgctccggcc	9	20	1	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr22:23656796T>C	ENST00000305877.8	+	22	4372	c.3621T>C	c.(3619-3621)ttT>ttC	p.F1207F	BCR_ENST00000359540.3_Silent_p.F1163F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1207	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	CCACGGTCTTTGGCCCCACGC	0.607			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"ABL1,  FGFR1, JAK2 "		"CML, ALL, AML"	BCR/JAK2(6)	0				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						c.(3619-3621)ttT>ttC		breakpoint cluster region							69	55	60					22																	23656796		2203	4300	6503	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23656796T>C		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.3621T>C	22.37:g.23656796T>C						BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.F1163F	p.F1207F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			22	4372	+			1207			Rho-GAP.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.3621T>C	CCDS13806.1																																																																																				0.607	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		26	47	0	0	0	1	0	26	47					C	23656796	T	C	23656796	2	2	421	1	0	0	0	0	0	0	0	1	1388	1809	63	3		3	BCR	22	23656796	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		23656796	27647770	46	36283											
MBTPS2	51360	broad.mit.edu	37	chrX	21896659	21896659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgaagcaactcaagtTtgcagaaccaataaagactg	9	8	1	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:21896659T>G	ENST00000379484.5	+	9	1209	c.1110T>G	c.(1108-1110)gtT>gtG	p.V370V		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	370	Cys-rich.				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)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAACTCAAGTTTGCAGAACCA	0.318																																						ENST00000379484.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(1108-1110)gtT>gtG		membrane-bound transcription factor peptidase, site 2							96	95	96					X																	21896659		2203	4300	6503	SO:0001819	synonymous_variant	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21896659T>G	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1110T>G	X.37:g.21896659T>G							p.V370V	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN			9	1209	+			370			Cys-rich.		Q9UM70|Q9UMD3	Silent	SNP	ENST00000379484.5	37	c.1110T>G	CCDS14201.1																																																																																				0.318	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			5	389	0	0	0	1	0	5	389					G	21896659	T	G	21896659	2	3	421	1	0	0	0	0	0	0	0	1	9362	1828	64	5		5	MBTPS2	23	21896659	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		21896659	133373901	47	36284											
PHEX	5251	broad.mit.edu	37	chrX	22231075	22231075	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggggaacagaatatcctcGgtgagtaaatgagtacagaa	12	5	0	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:22231075G>T	ENST00000379374.4	+	16	2265	c.1700G>T	c.(1699-1701)cGa>cTa	p.R567L	PHEX_ENST00000418858.3_Splice_Site_p.R270L|PHEX_ENST00000535894.1_Splice_Site_p.R470L|PHEX_ENST00000537599.1_Splice_Site_p.R567L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	567			R -> P (in XLHR; sporadic). {ECO:0000269|PubMed:10737991}.		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						GAATATCCTCGGTGAGTAAAT	0.388																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42	GRCh37	CM001284	PHEX	M		c.e16+1		phosphate regulating endopeptidase homolog, X-linked							95	91	92					X																	22231075		2203	4300	6503	SO:0001630	splice_region_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22231075G>T	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.1700+1G>T	X.37:g.22231075G>T						PHEX_ENST00000535894.1_Splice_Site_p.R470_splice|PHEX_ENST00000418858.3_Splice_Site_p.R270_splice|PHEX_ENST00000537599.1_Splice_Site_p.R567_splice	p.R567_splice	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			16	2265	+			567		R -> P (in HYP; sporadic).			O00678|Q13646|Q2M325|Q93032|Q99827	Splice_Site	SNP	ENST00000379374.4	37	c.1700_splice	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184677	0.78677	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.69	5.69	0.88448	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	N	0.21373	0.66	0.80722	D	1	D;D	0.58970	0.981;0.984	P;P	0.54460	0.638;0.753	D	0.91703	0.5375	10	0.72032	D	0.01	.	18.7851	0.91951	0.0:0.0:1.0:0.0	.	567;567	F5GXU4;P78562	.;PHEX_HUMAN	L	567;567;470;270	ENSP00000368682:R567L;ENSP00000440362:R567L;ENSP00000439418:R470L;ENSP00000443531:R270L	ENSP00000368682:R567L	R	+	2	0	PHEX	22140996	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.275000	0.89892	2.381000	0.81170	0.600000	0.82982	CGA		0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	Missense_Mutation	4	295	1	0	0.150653	1	0.150653	4	295					T	22231075	G	T	22231075	5	4	421	1	0	0	0	0	0	0	1	0	11819	1130	39	4	1762	4	PHEX	23	22231075	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	334416	22231075	133039485	48	36285											
OTUD5	55593	broad.mit.edu	37	chrX	48792064	48792064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtggttgccatggcaaTtgtttttccgcttcctgtta	9	9	0	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:48792064T>C	ENST00000156084.4	-	4	890	c.830A>G	c.(829-831)aAt>aGt	p.N277S	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Missense_Mutation_p.N60S|OTUD5_ENST00000376488.3_Missense_Mutation_p.N277S|OTUD5_ENST00000396743.3_Missense_Mutation_p.N277S	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	277	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCCATGGCAATTGTTTTTCCG	0.473																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(829-831)aAt>aGt		OTU domain containing 5							236	188	204					X																	48792064		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48792064T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.830A>G	X.37:g.48792064T>C	ENSP00000156084:p.Asn277Ser					OTUD5_ENST00000376488.3_Missense_Mutation_p.N277S|OTUD5_ENST00000428668.2_Missense_Mutation_p.N60S|OTUD5_ENST00000396743.3_Missense_Mutation_p.N277S|OTUD5_ENST00000484499.1_5'UTR	p.N277S	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			4	890	-			277			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.830A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894319	0.52121	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.52	5.52	0.82312	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	N	0.13235	0.315	0.80722	D	1	B;B;B	0.28400	0.073;0.21;0.175	B;B;B	0.35859	0.05;0.212;0.135	T	0.11372	-1.0590	10	0.25106	T	0.35	-12.8822	13.757	0.62943	0.0:0.0:0.0:1.0	.	60;277;277	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	S	277;253;150;277;277;60	ENSP00000379969:N277S;ENSP00000390767:N150S;ENSP00000156084:N277S;ENSP00000365671:N277S;ENSP00000401629:N60S	ENSP00000156084:N277S	N	-	2	0	OTUD5	48677008	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.386000	0.66238	1.961000	0.56991	0.430000	0.28490	AAT		0.473	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		5	382	0	0	0	1	0	5	382					C	48792064	T	C	48792064	3	2	421	1	0	0	0	0	1	0	0	0	11315	1493	52	3	909	3	OTUD5	23	48792064	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	26560989	48792064	106478496	49	36286											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857999	62857999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaaagacctgcgactgaGcgatgccgtcggggaccagg	14	12	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:62857999G>T	ENST00000253401.6	-	10	2260	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	487					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						CTGCGACTGAGCGATGCCGTC	0.552																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(1459-1461)gCt>gAt		Cdc42 guanine nucleotide exchange factor (GEF) 9							83	67	73					X																	62857999		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62857999G>T	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.1460C>A	X.37:g.62857999G>T	ENSP00000253401:p.Ala487Asp					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D	p.A487D	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			10	2260	-			487					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1460C>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560854	0.45590	.	.	ENSG00000131089	ENST00000253401;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T	0.72615	-0.59;-0.67;-0.45;-0.07;-0.67	5.15	3.14	0.36123	.	0.407083	0.26684	N	0.023022	T	0.46795	0.1411	N	0.08118	0	0.39435	D	0.967143	B;B;B	0.18968	0.009;0.009;0.032	B;B;B	0.19946	0.017;0.027;0.027	T	0.37911	-0.9685	10	0.45353	T	0.12	.	6.5206	0.22272	0.1065:0.0:0.7156:0.1779	.	434;487;487	B4DHC7;O43307;A8K1S8	.;ARHG9_HUMAN;.	D	487;434;385;214;466	ENSP00000253401:A487D;ENSP00000399994:A434D;ENSP00000364004:A385D;ENSP00000404478:A214D;ENSP00000364006:A466D	ENSP00000253401:A487D	A	-	2	0	ARHGEF9	62774724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.997000	0.63921	0.892000	0.36259	0.429000	0.28392	GCT		0.552	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			12	37	1	0	0.000151284	1	0.000160453	12	37					T	62857999	G	T	62857999	3	4	421	1	0	0	0	0	1	0	0	0	912	971	34	4	94	4	ARHGEF9	23	62857999	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	14065935	62857999	92412561	50	36287											
UTP14A	10813	broad.mit.edu	37	chrX	129042647	129042647	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttttgcctaatttcaggCggaaattggctgagaggtct	12	7	2	1	rs188896474		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:129042647C>T	ENST00000394422.3	+	4	203	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Splice_Site_p.R59W	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	59					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						TAATTTCAGGCGGAAATTGGC	0.428													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15244	0.0		0.0	False		,,,				2504	0.0					ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.e4-1		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							228	226	227					X																	129042647		2203	4300	6503	SO:0001630	splice_region_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129042647C>T	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.174-1C>T	X.37:g.129042647C>T						UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000425117.2_Splice_Site_p.R59_splice|RP4-537K23.4_ENST00000432062.1_RNA	p.R59_splice	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			4	203	+			59					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Splice_Site	SNP	ENST00000394422.3	37	c.173_splice	CCDS14615.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.33	1.607246	0.28623	.	.	ENSG00000156697	ENST00000425117;ENST00000394422	T;T	0.18338	2.22;2.22	5.5	1.45	0.22620	.	0.573103	0.19723	N	0.107560	T	0.05960	0.0155	N	0.02973	-0.45	0.25911	N	0.983235	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.29458	-1.0011	10	0.45353	T	0.12	5.3414	4.4798	0.11762	0.0:0.4365:0.1563:0.4072	.	59;59	E9PEL7;Q9BVJ6	.;UT14A_HUMAN	W	59	ENSP00000388669:R59W;ENSP00000377944:R59W	ENSP00000377944:R59W	R	+	1	2	UTP14A	128870328	0.005000	0.15991	0.833000	0.33012	0.595000	0.36748	-0.938000	0.03938	-0.139000	0.11414	0.600000	0.82982	CGG		0.428	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Missense_Mutation	6	758	0	0	0	1	0	6	758					T	129042647	C	T	129042647	5	4	421	1	0	0	0	0	0	0	1	0	17092	782	27	1	189	1	UTP14A	23	129042647	Splice_Site	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	66184648	129042647	26227913	51	36288											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800637	32800637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatctgttccgttcacaGggggcgactccccttcaccc	8	18	4	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:32800637G>A	ENST00000329421.7	-	2	494	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	50					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCGTTCACAGGGGGCGACTC	0.642																																						ENST00000329421.7																			0				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(148-150)cCt>cTt		MARCKS-like 1							63	67	66					1																	32800637		2203	4298	6501	SO:0001583	missense	65108					plasma membrane	calmodulin binding	g.chr1:32800637G>A	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"MARCKS-like protein"	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.149C>T	1.37:g.32800637G>A	ENSP00000362638:p.Pro50Leu						p.P50L	NM_023009.6	NP_075385.1	P49006	MRP_HUMAN			2	494	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	50					D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	ENST00000329421.7	37	c.149C>T	CCDS361.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219972	0.39201	.	.	ENSG00000175130	ENST00000329421	T	0.28454	1.61	3.9	2.98	0.34508	.	0.145674	0.47455	D	0.000229	T	0.30885	0.0779	L	0.38175	1.15	0.58432	D	0.999992	P	0.38300	0.626	B	0.43413	0.419	T	0.26430	-1.0103	10	0.72032	D	0.01	-5.6249	14.0607	0.64797	0.0:0.153:0.847:0.0	.	50	P49006	MRP_HUMAN	L	50	ENSP00000362638:P50L	ENSP00000362638:P50L	P	-	2	0	MARCKSL1	32573224	0.990000	0.36364	0.963000	0.40424	0.986000	0.74619	2.010000	0.40913	1.228000	0.43614	0.561000	0.74099	CCT		0.642	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		78	31	0	0	0	1	0	78	31					A	32800637	G	A	32800637	3	1	422	1	0	0	0	0	1	0	0	0	9310	1000	35	2	442	2	MARCKSL1	1	32800637	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		32800637	216449984	1	36289											
FRRS1	391059	broad.mit.edu	37	chr1	100194159	100194159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagaacactgcataacaCcgtccgccaacctccaagcc	6	16	0	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:100194159C>T	ENST00000414213.1	-	9	1497	c.896G>A	c.(895-897)gGt>gAt	p.G299D	FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	299	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTGCATAACACCGTCCGCCAA	0.393																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(895-897)gGt>gAt		ferric-chelate reductase 1							118	114	116					1																	100194159		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100194159C>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.896G>A	1.37:g.100194159C>T	ENSP00000393884:p.Gly299Asp					FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D	p.G299D			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	9	1497	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	299			DOMON.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.896G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.473912	0.84640	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	T;T	0.80738	-1.41;-1.41	5.19	5.19	0.71726	.	0.105878	0.64402	D	0.000005	D	0.86694	0.5994	L	0.61036	1.89	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.86957	0.2089	10	0.54805	T	0.06	-15.8369	18.7036	0.91630	0.0:1.0:0.0:0.0	.	299	Q6ZNA5-2	.	D	299	ENSP00000393884:G299D;ENSP00000287474:G299D	ENSP00000287474:G299D	G	-	2	0	FRRS1	99966747	1.000000	0.71417	0.672000	0.29872	0.855000	0.48748	5.970000	0.70431	2.415000	0.81967	0.491000	0.48974	GGT		0.393	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		58	35	0	0	0	1	0	58	35					T	100194159	C	T	100194159	3	4	422	1	0	0	0	0	1	0	0	0	6060	507	18	2	1020	2	FRRS1	1	100194159	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	67393522	100194159	149056462	2	36290											
GSTM2	2946	broad.mit.edu	37	chr1	110210764	110210764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacactggggtactggaaCatccgcggggtgagccaggg	17	9	0	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:110210764C>T	ENST00000241337.4	+	1	77	c.27C>T	c.(25-27)aaC>aaT	p.N9N	GSTM2_ENST00000369831.2_Silent_p.N9N|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	9	GST N-terminal.			N -> D (in Ref. 3; AAV38750). {ECO:0000305}.	cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGTACTGGAACATCCGCGGGG	0.677																																						ENST00000369831.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(25-27)aaC>aaT		glutathione S-transferase mu 2 (muscle)							47	48	48					1																	110210764		2203	4300	6503	SO:0001819	synonymous_variant	2946							g.chr1:110210764C>T	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"Glutathione S-transferases / Soluble"	4634	protein-coding gene	gene with protein product		138380	"glutathione S-transferase M2 (muscle)"			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.27C>T	1.37:g.110210764C>T						GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000241337.4_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N	p.N9N						all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	1	121	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.27C>T	CCDS808.1																																																																																				0.677	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		29	29	0	0	0	1	0	29	29					T	110210764	C	T	110210764	2	4	422	1	0	0	0	0	0	0	0	1	6838	477	17	2		2	GSTM2	1	110210764	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	10016605	110210764	139039857	3	36291											
ADCY10	55811	broad.mit.edu	37	chr1	167849749	167849749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattttgtggacttgagaGcagaagtcaaatatatccat	10	5	1	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:167849749G>A	ENST00000367851.4	-	10	1303	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C	ADCY10_ENST00000545172.1_Silent_p.C220C|ADCY10_ENST00000367848.1_Silent_p.C281C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	373	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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						GGACTTGAGAGCAGAAGTCAA	0.517																																						ENST00000367848.1																			0				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						c.(841-843)tgC>tgT		adenylate cyclase 10 (soluble)							112	109	110					1																	167849749		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167849749G>A	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.1119C>T	1.37:g.167849749G>A						ADCY10_ENST00000545172.1_Silent_p.C220C|ADCY10_ENST00000367851.4_Silent_p.C373C	p.C281C			Q96PN6	ADCYA_HUMAN			10	1340	-			373					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.843C>T	CCDS1265.1																																																																																				0.517	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		9	126	0	0	0	1	0	9	126					A	167849749	G	A	167849749	2	1	422	1	0	0	0	0	0	0	0	1	293	963	34	2		2	ADCY10	1	167849749	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	57638985	167849749	81400872	4	36292											
ASPM	259266	broad.mit.edu	37	chr1	197061121	197061121	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctctttgaattctaacagcAttcaggtgataatatgcagc	8	8	3	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:197061121A>T	ENST00000367409.4	-	22	9616	c.9360T>A	c.(9358-9360)aaT>aaA	p.N3120K	ASPM_ENST00000367408.1_Missense_Mutation_p.N785K|ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3120					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						TTCTAACAGCATTCAGGTGAT	0.363																																						ENST00000367409.4																			0				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						c.(9358-9360)aaT>aaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							102	105	104					1																	197061121		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197061121A>T	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.9360T>A	1.37:g.197061121A>T	ENSP00000356379:p.Asn3120Lys					ASPM_ENST00000367408.1_Missense_Mutation_p.N785K|ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K	p.N3120K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			22	9616	-			3120					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9360T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915645	0.17907	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71341	-0.56;-0.56;1.41	5.28	1.64	0.23874	.	0.551366	0.19096	N	0.122829	T	0.36826	0.0981	N	0.02011	-0.69	0.22081	N	0.999376	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.22695	-1.0209	10	0.17369	T	0.5	.	5.9162	0.19055	0.7181:0.1386:0.1433:0.0	.	1106;1535;3120	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	K	3120;1535;785;1106	ENSP00000356379:N3120K;ENSP00000294732:N1535K;ENSP00000356378:N785K	ENSP00000294732:N1535K	N	-	3	2	ASPM	195327744	1.000000	0.71417	0.984000	0.44739	0.165000	0.22458	2.072000	0.41510	0.084000	0.17077	-0.299000	0.09455	AAT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	144	0	0	0	1	0	10	144					T	197061121	A	T	197061121	3	4	422	1	0	0	0	0	1	0	0	0	1056	214	8	5	1101	5	ASPM	1	197061121	Missense_Mutation	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08	29211372	197061121	52189500	5	36293											
NLRC4	58484	broad.mit.edu	37	chr2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-													cacctgtgtcttctgcagccTtttcccatgaagccatagct							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1876-1878)agfs		NLR family, CARD domain containing 4							156	171	166					2																	32475056		2203	4300	6503	SO:0001589	frameshift_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475056delT	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1877delA	2.37:g.32475056delT	ENSP00000385090:p.Lys626fs					NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron	p.K626fs			Q9NPP4	NLRC4_HUMAN			5	2365	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		626					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Frame_Shift_Del	DEL	ENST00000404025.2	37	c.1877delA	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		7	462						7	462	---	---	---	---	-	32475056	T	-	32475056	7	5	422	1	0	1	0	1	0	0	0	0	10469	1609	56	0	1221	0	NLRC4	2	32475056	Frame_Shift_Del	DEL	T	TCGA-S9-A6U5-01A-12D-A33T-08		32475056	210724317	6	36294											
ITGB6	3694	broad.mit.edu	37	chr2	160980358	160980358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttgtccacacattcttctCgggcttggccagctgctgac	9	14	2	1	rs200145370		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:160980358C>T	ENST00000283249.2	-	12	2162	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	642					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACATTCTTCTCGGGCTTGGCC	0.453																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1924-1926)cGa>cAa		integrin, beta 6							167	145	153					2																	160980358		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160980358C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1925G>A	2.37:g.160980358C>T	ENSP00000283249:p.Arg642Gln					ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q	p.R642Q			P18564	ITB6_HUMAN			12	2162	-			642					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1925G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	6.557	0.471136	0.12461	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.89810	-2.57;-2.57;-2.57	5.74	-9.73	0.00512	Integrin beta subunit, tail (2);	1.840370	0.02745	N	0.116711	T	0.64907	0.2641	N	0.00972	-1.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.62567	-0.6827	10	0.14656	T	0.56	.	8.482	0.33049	0.15:0.0848:0.0752:0.69	.	600;642	E9PEE8;P18564	.;ITB6_HUMAN	Q	642;600;642	ENSP00000283249:R642Q;ENSP00000408024:R600Q;ENSP00000386367:R642Q	ENSP00000283249:R642Q	R	-	2	0	ITGB6	160688604	0.001000	0.12720	0.000000	0.03702	0.478000	0.33099	-0.825000	0.04433	-2.073000	0.00878	-1.186000	0.01703	CGA		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		21	146	0	0	0	1	0	21	146					T	160980358	C	T	160980358	3	4	422	1	0	0	0	0	1	0	0	0	7899	884	31	1	457	1	ITGB6	2	160980358	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	128505302	160980358	82219015	7	36295											
PLCL1	5334	broad.mit.edu	37	chr2	198950470	198950470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggagcttgtgccaaaggGgatgtcatagatccctatgt	13	7	1	1	rs142477843		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:198950470G>A	ENST00000428675.1	+	2	2627	c.2229G>A	c.(2227-2229)ggG>ggA	p.G743G	PLCL1_ENST00000437704.2_Silent_p.G645G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	743	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	GTGCCAAAGGGGATGTCATAG	0.433																																						ENST00000428675.1																			0				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						c.(2227-2229)ggG>ggA		phospholipase C-like 1	Quinacrine(DB01103)	G		0,4406		0,0,2203	66	66	66		2229	3.5	1	2	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLCL1	NM_006226.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		743/1096	198950470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950470G>A	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.2229G>A	2.37:g.198950470G>A						PLCL1_ENST00000437704.2_Silent_p.G645G	p.G743G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2627	+			743			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2229G>A	CCDS2326.2																																																																																				0.433	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		14	165	0	0	0	1	0	14	165					A	198950470	G	A	198950470	2	1	422	1	0	0	0	0	0	0	0	1	12039	1219	43	2		2	PLCL1	2	198950470	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	37970112	198950470	44248903	8	36296											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			56	100	0	0	0	1	0	56	100					T	209113112	C	T	209113112	3	4	422	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	10162642	209113112	34086261	9	36297											
AMT	275	broad.mit.edu	37	chr3	49459637	49459637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactggcagactccaacccGcaaacgccaccattttcccg	7	18	0	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:49459637G>A	ENST00000273588.3	-	2	460	c.158C>T	c.(157-159)gCg>gTg	p.A53V	AMT_ENST00000538581.1_Intron|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Intron|NICN1_ENST00000422593.1_5'Flank|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000395338.2_Missense_Mutation_p.A53V	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	53					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	ACTCCAACCCGCAAACGCCAC	0.627																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(157-159)gCg>gTg		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						111	116	114					3																	49459637		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49459637G>A	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.158C>T	3.37:g.49459637G>A	ENSP00000273588:p.Ala53Val					AMT_ENST00000546031.1_Intron|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|AMT_ENST00000395338.2_Missense_Mutation_p.A53V|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Intron	p.A53V	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	460	-			53					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.158C>T	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366814	0.61513	.	.	ENSG00000145020	ENST00000395338;ENST00000458307;ENST00000273588	D;D;D	0.84370	-1.84;-1.84;-1.84	4.55	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;P;P;P	0.64877	0.93;0.877;0.809;0.694	D	0.92648	0.6130	10	0.87932	D	0	-24.7896	11.9071	0.52719	0.0:0.0:0.8242:0.1758	.	53;5;53;53	B4DJQ0;B4DEE9;E9PBG1;P48728	.;.;.;GCST_HUMAN	V	53	ENSP00000378747:A53V;ENSP00000415619:A53V;ENSP00000273588:A53V	ENSP00000273588:A53V	A	-	2	0	AMT	49434641	1.000000	0.71417	0.005000	0.12908	0.023000	0.10783	9.198000	0.94994	1.242000	0.43836	-0.181000	0.13052	GCG		0.627	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		5	302	0	0	0	1	0	5	302					A	49459637	G	A	49459637	3	1	422	1	0	0	0	0	1	0	0	0	589	1087	38	1	1113	1	AMT	3	49459637	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		49459637	148562793	10	36298											
PHOX2B	8929	broad.mit.edu	37	chr4	41750611	41750611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaattgaggtaagaaTattccattttatacattgaa	8	4	0	4			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:41750611T>C	ENST00000226382.2	-	1	376	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	6					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGGTAAGAATATTCCATTTT	0.483			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000226382.2			yes	Rec	yes	familial neuroblastoma	4	4p12	8929	"Mis, F"	paired-like homeobox 2b	yes	congenital central hypoventilation syndrome	O		neuroblastoma	neuroblastoma		0				autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						c.(16-18)tAt>tGt		paired-like homeobox 2b							32	33	33					4																	41750611		2203	4300	6503	SO:0001583	missense	8929	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr4:41750611T>C	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"Homeoboxes / PRD class"	9143	protein-coding gene	gene with protein product		603851	"paired mesoderm homeobox 2b"	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.17A>G	4.37:g.41750611T>C	ENSP00000226382:p.Tyr6Cys					RP11-227F19.1_ENST00000508038.1_RNA	p.Y6C	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN			1	376	-			6					Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	c.17A>G	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384779	0.42308	.	.	ENSG00000109132	ENST00000226382	D	0.91351	-2.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.94918	0.8071	10	0.87932	D	0	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	6	Q99453	PHX2B_HUMAN	C	6	ENSP00000226382:Y6C	ENSP00000226382:Y6C	Y	-	2	0	PHOX2B	41445368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.955000	0.70306	2.169000	0.68431	0.459000	0.35465	TAT		0.483	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2			9	64	0	0	0	1	0	9	64					C	41750611	T	C	41750611	3	2	422	1	0	0	0	0	1	0	0	0	11859	1406	49	3	939	3	PHOX2B	4	41750611	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		41750611	149403665	11	36299											
SPP1	6696	broad.mit.edu	37	chr4	88898248	88898248	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaagttctgaggaaaagcAggtaagcatcttttatgttt	11	4	2	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:88898248A>T	ENST00000395080.3	+	3	219	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Splice_Site_p.Q31L|SPP1_ENST00000237623.7_Splice_Site_p.Q31L	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	31					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)		GAGGAAAAGCAGGTAAGCATC	0.358																																						ENST00000237623.7																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13						c.e3+1		secreted phosphoprotein 1							91	89	90					4																	88898248		2203	4300	6503	SO:0001630	splice_region_variant	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88898248A>T		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.93+1A>T	4.37:g.88898248A>T						SPP1_ENST00000395080.3_Splice_Site_p.Q31_splice|SPP1_ENST00000360804.4_Splice_Site_p.Q31_splice|SPP1_ENST00000509659.1_3'UTR	p.Q31_splice	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	3	240	+		Hepatocellular(203;0.114)	31					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Splice_Site	SNP	ENST00000395080.3	37	c.93_splice	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179285	0.57800	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.44482	1.58;1.58;0.92;1.51	4.89	-1.21	0.09524	.	0.681586	0.13342	N	0.395116	T	0.22244	0.0536	N	0.21097	0.63	0.20489	N	0.999899	B;B;B;B	0.18863	0.031;0.031;0.0;0.031	B;B;B;B	0.20767	0.031;0.031;0.002;0.031	T	0.14643	-1.0465	10	0.39692	T	0.17	-0.2292	2.5688	0.04790	0.4994:0.2797:0.0849:0.136	.	31;31;31;31	Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;OSTP_HUMAN	L	31	ENSP00000237623:Q31L;ENSP00000378517:Q31L;ENSP00000354042:Q31L;ENSP00000422973:Q31L	ENSP00000237623:Q31L	Q	+	2	0	SPP1	89117272	0.136000	0.22515	0.948000	0.38648	0.824000	0.46624	-0.272000	0.08560	0.153000	0.19213	0.472000	0.43445	CAG		0.358	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3		Missense_Mutation	54	104	0	0	0	1	0	54	104					T	88898248	A	T	88898248	5	4	422	1	0	0	0	0	0	0	1	0	15085	202	7	5	98	5	SPP1	4	88898248	Splice_Site	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08	47147637	88898248	102256028	12	36300											
PDGFC	56034	broad.mit.edu	37	chr4	157771503	157771503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggataagtatgaggaaaccTtgggctgtgaatacttccat	11	6	0	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:157771503T>C	ENST00000502773.1	-	2	674	c.184A>G	c.(184-186)Agg>Ggg	p.R62G	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G|PDGFC_ENST00000542208.1_5'Flank	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	62	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGAGGAAACCTTGGGCTGTGA	0.358																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(184-186)Agg>Ggg		platelet derived growth factor C							92	85	87					4																	157771503		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157771503T>C	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.184A>G	4.37:g.157771503T>C	ENSP00000422464:p.Arg62Gly					PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G	p.R62G	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	2	674	-	all_hematologic(180;0.24)	Renal(120;0.0458)	62			CUB.		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.184A>G	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	T	4.251	0.045588	0.08196	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.29655	1.56;1.56	6.04	0.426	0.16479	CUB (5);	0.496456	0.23536	N	0.047129	T	0.09335	0.0230	N	0.02286	-0.61	0.09310	N	0.99999	B	0.02656	0.0	B	0.04013	0.001	T	0.37361	-0.9709	10	0.06757	T	0.87	-4.4557	8.8208	0.35025	0.0:0.0669:0.4392:0.4939	.	62	Q9NRA1	PDGFC_HUMAN	G	62	ENSP00000422464:R62G;ENSP00000410048:R62G	ENSP00000410048:R62G	R	-	1	2	PDGFC	157990953	0.788000	0.28762	0.004000	0.12327	0.982000	0.71751	1.376000	0.34306	-0.138000	0.11434	0.459000	0.35465	AGG		0.358	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			49	57	0	0	0	1	0	49	57					C	157771503	T	C	157771503	3	2	422	1	0	0	0	0	1	0	0	0	11659	1608	56	3	873	3	PDGFC	4	157771503	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08	68873255	157771503	33382773	13	36301											
MFAP3L	9848	broad.mit.edu	37	chr4	170926744	170926746	+	In_Frame_Del	DEL	CTT	CTT	-													agcctacctcctcctctctcCttctcatcctcttcttcttt							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:170926744_170926746delCTT	ENST00000361618.3	-	2	590_592	c.283_285delAAG	c.(283-285)aagdel	p.K95del	MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del|MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	95	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTCCTCTCTCCTTCTCATCCTCT	0.424																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(283-285)del		microfibrillar-associated protein 3-like																																				SO:0001651	inframe_deletion	9848					integral to membrane|plasma membrane		g.chr4:170926744_170926746delCTT	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.283_285delAAG	4.37:g.170926744_170926746delCTT	ENSP00000354583:p.Lys95del					MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del|MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del	p.K95del	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	590_592	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	95			Ig-like C2-type.		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	In_Frame_Del	DEL	ENST00000361618.3	37	c.283_285delAAG	CCDS34103.1																																																																																				0.424	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		22	416						22	416	---	---	---	---	-	170926746	CTT	-	170926744	7	5	422	1	0	1	0	1	0	0	0	0	9516	680	24	0	952	0	MFAP3L	4	170926744	In_Frame_Del	DEL	CTT	TCGA-S9-A6U5-01A-12D-A33T-08	13155241	170926744	20227532	14	36302											
BDP1	55814	broad.mit.edu	37	chr5	70819927	70819927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggatcaaaacgagttcGgggtaagacctctaagaagg	13	7	2	2	rs369782014		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr5:70819927G>A	ENST00000358731.4	+	25	5812	c.5549G>A	c.(5548-5550)cGg>cAg	p.R1850Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1850					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAACGAGTTCGGGGTAAGACC	0.453																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5548-5550)cGg>cAg		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB		G	GLN/ARG	1,3839		0,1,1919	86	89	88		5549	5.5	0.8	5		88	1,8233		0,1,4116	no	missense	BDP1	NM_018429.2	43	0,2,6035	AA,AG,GG		0.0121,0.026,0.0166	probably-damaging	1850/2625	70819927	2,12072	1920	4117	6037	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70819927G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5549G>A	5.37:g.70819927G>A	ENSP00000351575:p.Arg1850Gln					BDP1_ENST00000380675.2_5'UTR	p.R1850Q	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	25	5812	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1850					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5549G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659837	0.88154	2.6E-4	1.21E-4	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.33865	1.39	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000130	T	0.56140	0.1965	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.972;0.996	T	0.51498	-0.8698	10	0.40728	T	0.16	.	14.033	0.64627	0.0:0.0:0.8483:0.1517	.	1850;1850	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	Q	1850;1430	ENSP00000351575:R1850Q	ENSP00000351575:R1850Q	R	+	2	0	BDP1	70855683	0.983000	0.35010	0.848000	0.33437	0.983000	0.72400	2.878000	0.48515	2.723000	0.93209	0.655000	0.94253	CGG		0.453	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	163	0	0	0	1	0	4	163					A	70819927	G	A	70819927	3	1	422	1	0	0	0	0	1	0	0	0	1395	1116	39	1	5647	1	BDP1	5	70819927	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		70819927	110095333	15	36303											
CHMP7	91782	broad.mit.edu	37	chr8	23117744	23117744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctgcctgacaacccccGcaataggcattttaccaaca	7	14	1	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:23117744G>A	ENST00000397677.1	+	10	1856	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	403					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GACAACCCCCGCAATAGGCAT	0.463																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1207-1209)cGc>cAc		charged multivesicular body protein 7							114	103	107					8																	23117744		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23117744G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1208G>A	8.37:g.23117744G>A	ENSP00000380794:p.Arg403His					CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H	p.R403H	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	10	1856	+		Prostate(55;0.0513)	403					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.1208G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	0.929	-0.713202	0.03206	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.72051	-0.62;-0.62	5.66	0.44	0.16572	.	1.024250	0.07702	N	0.940628	T	0.46405	0.1391	N	0.03608	-0.345	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.41790	T	0.15	1.795	8.3088	0.32058	0.4768:0.4486:0.0746:0.0	.	403	Q8WUX9	CHMP7_HUMAN	H	403	ENSP00000380794:R403H;ENSP00000324491:R403H	ENSP00000324491:R403H	R	+	2	0	CHMP7	23173689	0.176000	0.23096	0.020000	0.16555	0.016000	0.09150	0.625000	0.24477	-0.141000	0.11374	-0.312000	0.09012	CGC		0.463	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		4	207	0	0	0	1	0	4	207					A	23117744	G	A	23117744	3	1	422	1	0	0	0	0	1	0	0	0	3361	1087	38	1	1242	1	CHMP7	8	23117744	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		23117744	123246278	16	36304											
SCRT1	83482	broad.mit.edu	37	chr8	145556985	145556985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcgcttgcactggaaGtgcttgaaggccgaatgcgt	14	9	0	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:145556985G>A	ENST00000332135.4	-	2	1020	c.909C>T	c.(907-909)caC>caT	p.H303H		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	303					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)|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)|upper_aerodigestive_tract(1)	3	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;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCACTGGAAGTGCTTGAAGG	0.652																																						ENST00000332135.4																			0				breast(2)|upper_aerodigestive_tract(1)	3						c.(907-909)caC>caT		scratch family zinc finger 1							25	26	26					8																	145556985		2203	4296	6499	SO:0001819	synonymous_variant	83482					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:145556985G>A	BC014675	CCDS6421.1	8q24.3	2013-10-09	2013-10-09		ENSG00000170616	ENSG00000261678		"Zinc fingers, C2H2-type"	15950	protein-coding gene	gene with protein product		605858	"scratch (drosophila homolog) 1, zinc finger protein", "scratch homolog 1, zinc finger protein (Drosophila)"			11274425	Standard	NM_031309		Approved	DKFZp547F072, ZNF898	uc003zbw.1	Q9BWW7	OTTHUMG00000165229	ENST00000332135.4:c.909C>T	8.37:g.145556985G>A							p.H303H	NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		2	1020	-	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)		303					A8MX66|Q96C52	Silent	SNP	ENST00000332135.4	37	c.909C>T	CCDS6421.1																																																																																				0.652	SCRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382800.2	NM_031309		12	24	0	0	0	1	0	12	24					A	145556985	G	A	145556985	2	1	422	1	0	0	0	0	0	0	0	1	13941	1020	36	2		2	SCRT1	8	145556985	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	122439241	145556985	807037	17	36305											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-													gccatggggacactcgcagtAgaaggaggccacacggtcat							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; 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)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	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						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	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.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	32						10	32	---	---	---	---	-	139413072	AGA	-	139413070	7	5	422	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-S9-A6U5-01A-12D-A33T-08		139413070	1800361	18	36306											
USP54	159195	broad.mit.edu	37	chr10	75331188	75331188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtacttaccttgagagcGcaaaagatgcaggaatctcc	10	9	1	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77	USP.				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)					CCTTGAGAGCGCAAAAGATGC	0.433																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(229-231)tgC>tgT		ubiquitin specific peptidase 54							120	108	112					10																	75331188		1901	4133	6034	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75331188G>A	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.231C>T	10.37:g.75331188G>A						USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR	p.C77C			Q70EL1	UBP54_HUMAN			3	331	-	Prostate(51;0.0112)		77					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.231C>T	CCDS7329.2																																																																																				0.433	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		4	147	0	0	0	1	0	4	147					A	75331188	G	A	75331188	2	1	422	1	0	0	0	0	0	0	0	1	17082	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		75331188	60203559	19	36307											
KCNIP2	30819	broad.mit.edu	37	chr10	103589642	103589642	+	Frame_Shift_Del	DEL	G	G	-													tgtgggggcggagggaggctGgggcggctaatgctgaaggg							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:103589642delG	ENST00000356640.2	-	3	457	c.182delC	c.(181-183)ccafs	p.P61fs	KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000358038.3_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000353068.3_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	61					clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GAGGGAGGCTGGGGCGGCTAA	0.667																																						ENST00000356640.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(181-183)cafs		Kv channel interacting protein 2							56	50	52					10																	103589642		2138	4229	6367	SO:0001589	frameshift_variant	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103589642delG		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"EF-hand domain containing"	15522	protein-coding gene	gene with protein product		604661	"Kv channel-interacting protein 2"			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.182delC	10.37:g.103589642delG	ENSP00000349055:p.Pro61fs					KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs	p.P61fs	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	3	457	-		Colorectal(252;0.122)	61					A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Frame_Shift_Del	DEL	ENST00000356640.2	37	c.182delC	CCDS7522.1																																																																																				0.667	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			2	4						2	4	---	---	---	---	-	103589642	G	-	103589642	7	5	422	1	0	1	0	1	0	0	0	0	8040	1348	47	0	730	0	KCNIP2	10	103589642	Frame_Shift_Del	DEL	G	TCGA-S9-A6U5-01A-12D-A33T-08	28258454	103589642	31945105	20	36308											
NHLRC2	374354	broad.mit.edu	37	chr10	115664616	115664616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgctgtggtagatggccCgttcctagtagaaaaacaga	11	7	0	3	rs370450558	byFrequency	TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:115664616C>T	ENST00000369301.3	+	10	1957	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	582										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GTAGATGGCCCGTTCCTAGTA	0.408													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17460	0.0		0.0	False		,,,				2504	0.0					ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1744-1746)cCg>cTg		NHL repeat containing 2		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	79	73	75		1745	4.6	0.8	10		75	0,8600		0,0,4300	no	missense	NHLRC2	NM_198514.3	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	582/727	115664616	1,13005	2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115664616C>T	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1745C>T	10.37:g.115664616C>T	ENSP00000358307:p.Pro582Leu						p.P582L	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	10	1957	+			582					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1745C>T	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	C	7.165	0.586503	0.13749	2.27E-4	0.0	ENSG00000196865	ENST00000369301	T	0.46063	0.88	5.55	4.59	0.56863	.	0.259451	0.38326	N	0.001723	T	0.20780	0.0500	N	0.19112	0.55	0.40459	D	0.980226	B	0.32620	0.378	B	0.17098	0.017	T	0.08027	-1.0742	10	0.23302	T	0.38	-7.3115	6.9842	0.24719	0.0:0.5953:0.3116:0.0931	.	582	Q8NBF2	NHLC2_HUMAN	L	582	ENSP00000358307:P582L	ENSP00000358307:P582L	P	+	2	0	NHLRC2	115654606	0.028000	0.19301	0.758000	0.31321	0.048000	0.14542	1.238000	0.32707	2.600000	0.87896	0.650000	0.86243	CCG		0.408	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		29	82	0	0	0	1	0	29	82					T	115664616	C	T	115664616	3	4	422	1	0	0	0	0	1	0	0	0	10406	652	23	1	1783	1	NHLRC2	10	115664616	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	12074974	115664616	19870131	21	36309											
OPCML	4978	broad.mit.edu	37	chr11	132527130	132527130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatcacacgagggtcTatggaccacttgtcattccc	10	11	3	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr11:132527130T>C	ENST00000331898.7	-	2	830	c.252A>G	c.(250-252)atA>atG	p.I84M	OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000541867.1_Missense_Mutation_p.I84M|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	84	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)		CACGAGGGTCTATGGACCACT	0.542																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(250-252)atA>atG		opioid binding protein/cell adhesion molecule-like							219	160	180					11																	132527130		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527130T>C	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.252A>G	11.37:g.132527130T>C	ENSP00000330862:p.Ile84Met					OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M|OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000541867.1_Missense_Mutation_p.I84M	p.I84M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	830	-	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)	84			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.252A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195722	0.78902	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061581	0.64402	D	0.000002	T	0.38772	0.1053	L	0.47716	1.5	0.49915	D	0.999837	P;P;P;P	0.48294	0.454;0.908;0.454;0.454	P;P;P;P	0.48488	0.579;0.579;0.492;0.492	T	0.17018	-1.0383	10	0.66056	D	0.02	-16.994	16.3631	0.83280	0.0:0.0:0.0:1.0	.	84;77;84;84	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	M	84;77;43;84	ENSP00000330862:I84M;ENSP00000434750:I77M;ENSP00000363910:I43M;ENSP00000445496:I84M	ENSP00000330862:I84M	I	-	3	3	OPCML	132032340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.980000	0.63812	2.266000	0.75297	0.533000	0.62120	ATA		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		23	166	0	0	0	1	0	23	166					C	132527130	T	C	132527130	3	2	422	1	0	0	0	0	1	0	0	0	10874	1512	53	3	809	3	OPCML	11	132527130	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		132527130	2479386	22	36310											
GNB3	2784	broad.mit.edu	37	chr12	6950780	6950780	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagcctgtgctgacgttactCtggcagaggtaagaccccct	11	12	1	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr12:6950780C>G	ENST00000229264.3	+	4	493	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_Missense_Mutation_p.L30V|LEPREL2_ENST00000606935.1_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	30					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGACGTTACTCTGGCAGAGGT	0.642																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(88-90)Ctg>Gtg		guanine nucleotide binding protein (G protein), beta polypeptide 3							49	43	45					12																	6950780		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6950780C>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.88C>G	12.37:g.6950780C>G	ENSP00000229264:p.Leu30Val					GNB3_ENST00000435982.2_Missense_Mutation_p.L30V	p.L30V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			4	493	+			30					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.88C>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830696	0.50845	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.01430	4.9;4.9;4.9;4.9	4.22	3.28	0.37604	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.02193	0.0068	L	0.60904	1.88	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.21151	0.033;0.033	T	0.50533	-0.8817	10	0.35671	T	0.21	-10.2788	10.8318	0.46665	0.0:0.9001:0.0:0.0999	.	30;30	E9PCP0;P16520	.;GBB3_HUMAN	V	30	ENSP00000229264:L30V;ENSP00000442002:L30V;ENSP00000414734:L30V;ENSP00000445967:L30V	ENSP00000229264:L30V	L	+	1	2	GNB3	6821041	0.985000	0.35326	0.971000	0.41717	0.938000	0.57974	2.695000	0.47043	0.831000	0.34780	0.561000	0.74099	CTG		0.642	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		3	31	0	0	0	1	0	3	31					G	6950780	C	G	6950780	3	3	422	1	0	0	0	0	1	0	0	0	6519	912	32	4	94	4	GNB3	12	6950780	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		6950780	126901115	23	36311											
COL4A1	1282	broad.mit.edu	37	chr13	110895028	110895028	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcggcaactcaccttttgTcccttcactccatggcagtc	6	15	2	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr13:110895028T>C	ENST00000375820.4	-	2	259	c.138A>G	c.(136-138)ggA>ggG	p.G46G	COL4A1_ENST00000543140.1_Silent_p.G46G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	46					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)			TCACCTTTTGTCCCTTCACTC	0.403																																						ENST00000375820.4																			0				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						c.(136-138)ggA>ggG		collagen, type IV, alpha 1							280	284	283					13																	110895028		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110895028T>C	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.138A>G	13.37:g.110895028T>C						COL4A1_ENST00000543140.1_Silent_p.G46G	p.G46G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		2	259	-	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)	46					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.138A>G	CCDS9511.1																																																																																				0.403	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			195	304	0	0	0	1	0	195	304					C	110895028	T	C	110895028	2	2	422	1	0	0	0	0	0	0	0	1	3689	1654	58	3		3	COL4A1	13	110895028	Silent	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		110895028	4274850	24	36312											
SLC7A7	9056	broad.mit.edu	37	chr14	23242852	23242856	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-													ggatcccgttgcttgggcatCtctcctccatcttccaaatc							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr14:23242852_23242856delCTCTC	ENST00000397532.3	-	10	2024_2028	c.1499_1503delGAGAG	c.(1498-1503)ggagagfs	p.GE500fs	SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	500					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCTTGGGCATCTCTCCTCCATCTTC	0.473																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(1498-1503)gfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7																																				SO:0001589	frameshift_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23242852_23242856delCTCTC	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1499_1503delGAGAG	14.37:g.23242852_23242856delCTCTC	ENSP00000380666:p.Gly500fs					SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs	p.GE500fs			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	10	2024_2028	-	all_cancers(95;8.44e-05)		500					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Frame_Shift_Del	DEL	ENST00000397532.3	37	c.1499_1503delGAGAG	CCDS9574.1																																																																																				0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			20	72						20	72	---	---	---	---	-	23242856	CTCTC	-	23242852	7	5	422	1	0	1	0	1	0	0	0	0	14703	912	32	0	36	0	SLC7A7	14	23242852	Frame_Shift_Del	DEL	CTCTC	TCGA-S9-A6U5-01A-12D-A33T-08		23242852	84106688	25	36313											
TMEM62	80021	broad.mit.edu	37	chr15	43473409	43473409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtgaaatcattgatgGcaaatttggttgctgctttt	10	4	1	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr15:43473409G>A	ENST00000260403.2	+	13	1796	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	RP11-473C18.3_ENST00000565685.1_RNA|TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	506						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ATCATTGATGGCAAATTTGGT	0.338																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1516-1518)gGc>gAc		transmembrane protein 62							237	231	233					15																	43473409		2202	4298	6500	SO:0001583	missense	80021					integral to membrane		g.chr15:43473409G>A	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1517G>A	15.37:g.43473409G>A	ENSP00000260403:p.Gly506Asp					EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	p.G506D	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	13	1796	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	506					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1517G>A	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357491	0.41801	.	.	ENSG00000137842	ENST00000260403	.	.	.	4.58	3.66	0.41972	.	0.047872	0.85682	N	0.000000	T	0.51227	0.1662	L	0.52905	1.665	0.80722	D	1	P	0.34522	0.455	B	0.34301	0.179	T	0.50533	-0.8817	9	0.32370	T	0.25	-6.7553	12.9295	0.58278	0.0794:0.0:0.9206:0.0	.	506	Q0P6H9	TMM62_HUMAN	D	506	.	ENSP00000260403:G506D	G	+	2	0	TMEM62	41260701	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.773000	0.75006	1.273000	0.44346	0.462000	0.41574	GGC		0.338	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		5	367	0	0	0	1	0	5	367					A	43473409	G	A	43473409	3	1	422	1	0	0	0	0	1	0	0	0	16186	1203	42	2	1567	2	TMEM62	15	43473409	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		43473409	59057983	26	36314											
BCAR1	9564	broad.mit.edu	37	chr16	75276756	75276756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggctgaggctgggccGgggtggcgggagggccgggg	26	9	0	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr16:75276756G>A	ENST00000162330.5	-	2	371	c.245C>T	c.(244-246)cCg>cTg	p.P82L	BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L|BCAR1_ENST00000546196.1_Missense_Mutation_p.P53L|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	82	Pro-rich.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCTGGGCCGGGGTGGCGGG	0.687																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(157-159)cCg>cTg		breast cancer anti-estrogen resistance 1							19	23	21					16																	75276756		2196	4294	6490	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75276756G>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.245C>T	16.37:g.75276756G>A	ENSP00000162330:p.Pro82Leu					BCAR1_ENST00000162330.5_Missense_Mutation_p.P82L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L	p.P53L			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	2	1810	-			82			SH3.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.158C>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	G	6.536	0.467210	0.12402	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	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	5.09	4.13	0.48395	Src homology-3 domain (1);	0.833933	0.10177	N	0.706325	T	0.45915	0.1366	L	0.42245	1.32	0.19300	N	0.999976	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.0;0.001;0.002;0.0	T	0.33675	-0.9859	10	0.38643	T	0.18	-0.1019	10.9277	0.47199	0.0886:0.0:0.9114:0.0	.	100;128;80;82;100;82;82	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	L	82;100;100;82;128;82;80;53	ENSP00000162330:P82L;ENSP00000377074:P100L;ENSP00000392708:P100L;ENSP00000443841:P82L;ENSP00000391669:P128L;ENSP00000377072:P82L;ENSP00000440415:P80L;ENSP00000442161:P53L	ENSP00000162330:P82L	P	-	2	0	BCAR1	73834257	0.032000	0.19561	0.002000	0.10522	0.003000	0.03518	1.812000	0.38952	1.289000	0.44618	0.655000	0.94253	CCG		0.687	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		4	91	0	0	0	1	0	4	91					A	75276756	G	A	75276756	3	1	422	1	0	0	0	0	1	0	0	0	1348	1116	39	1	2452	1	BCAR1	16	75276756	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		75276756	15077997	27	36315											
MYO1C	4641	broad.mit.edu	37	chr17	1375272	1375272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgcaggttttccaacagCcccaggtacttcacctggtg	10	14	1	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:1375272C>T	ENST00000575158.1	-	19	2021	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000359786.5_Silent_p.G650G|MYO1C_ENST00000438665.2_Silent_p.G631G|MYO1C_ENST00000545534.2_Silent_p.G626G			Q12965	MYO1E_HUMAN	myosin IC	611	Myosin motor.				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)		TTTCCAACAGCCCCAGGTACT	0.657																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1948-1950)ggG>ggA		myosin IC							68	71	70					17																	1375272		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1375272C>T	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.1845G>A	17.37:g.1375272C>T						MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000545534.2_Silent_p.G626G|MYO1C_ENST00000438665.2_Silent_p.G631G|MYO1C_ENST00000575158.1_Silent_p.G615G	p.G650G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	19	2274	-			650			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1950G>A	CCDS11003.1																																																																																				0.657	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			14	216	0	0	0	1	0	14	216					T	1375272	C	T	1375272	2	4	422	1	0	0	0	0	0	0	0	1	10070	726	26	2		2	MYO1C	17	1375272	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		1375272	79819938	28	36316											
TBX4	9496	broad.mit.edu	37	chr17	59560289	59560289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacctggacttaccttgCaagcgatcctatctggaagc	9	14	1	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:59560289C>T	ENST00000240335.1	+	8	1095	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	TBX4_ENST00000393853.4_Silent_p.C351C|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	350					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTTACCTTGCAAGCGATCCT	0.567																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1051-1053)tgC>tgT		T-box 4							56	49	52					17																	59560289		2203	4300	6503	SO:0001819	synonymous_variant	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560289C>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1050C>T	17.37:g.59560289C>T						TBX4_ENST00000240335.1_Silent_p.C350C|TBX4_ENST00000589449.1_3'UTR	p.C351C			P57082	TBX4_HUMAN			9	1216	+			350					A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	c.1053C>T	CCDS11629.1																																																																																				0.567	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		16	25	0	0	0	1	0	16	25					T	59560289	C	T	59560289	2	4	422	1	0	0	0	0	0	0	0	1	15657	718	25	2		2	TBX4	17	59560289	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	58185017	59560289	21634921	29	36317											
SLC14A1	6563	broad.mit.edu	37	chr18	43316423	43316423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgttctttttttagccCaattttctcaagtgcattga	6	9	3	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr18:43316423C>A	ENST00000321925.4	+	6	705	c.473C>A	c.(472-474)cCa>cAa	p.P158Q	SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	158					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTTTTTAGCCCAATTTTCTCA	0.473																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(472-474)cCa>cAa		solute carrier family 14 (urea transporter), member 1							108	102	104					18																	43316423		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43316423C>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.473C>A	18.37:g.43316423C>A	ENSP00000318546:p.Pro158Gln					SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA	p.P158Q	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN			6	705	+			158					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.473C>A	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320457	0.81469	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.51	5.51	0.81932	.	0.059258	0.64402	D	0.000002	T	0.77525	0.4143	M	0.92784	3.345	0.80722	D	1	D;P;D	0.89917	1.0;0.922;0.961	D;P;P	0.91635	0.999;0.866;0.908	T	0.82458	-0.0447	10	0.62326	D	0.03	-8.7434	19.4985	0.95083	0.0:1.0:0.0:0.0	.	214;50;158	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	Q	158;214;50;53;26;214	ENSP00000318546:P158Q;ENSP00000412309:P214Q;ENSP00000442180:P50Q;ENSP00000385320:P53Q;ENSP00000441998:P26Q;ENSP00000390637:P214Q	ENSP00000318546:P158Q	P	+	2	0	SLC14A1	41570421	1.000000	0.71417	0.764000	0.31436	0.508000	0.34012	6.717000	0.74707	2.598000	0.87819	0.650000	0.86243	CCA		0.473	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		4	220	1	0	3.59834e-05	1	3.68829e-05	4	220					A	43316423	C	A	43316423	3	1	422	1	0	0	0	0	1	0	0	0	14396	594	21	4	659	4	SLC14A1	18	43316423	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		43316423	34760825	30	36318											
CIC	23152	broad.mit.edu	37	chr19	42798857	42798858	+	Frame_Shift_Del	DEL	CT	CT	-													gccgggccctggtcatgcagCtctttcaggaccatggcttc							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr19:42798857_42798858delCT	ENST00000575354.2	+	19	4469_4470	c.4429_4430delCT	c.(4429-4431)ctcfs	p.L1477fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.L2383fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1477					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)				GGTCATGCAGCTCTTTCAGGAC	0.604			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7147-7149)cfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798857_42798858delCT	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.4429_4430delCT	19.37:g.42798859_42798860delCT	ENSP00000458663:p.Leu1477fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.L1477fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs	p.L2383fs			Q96RK0	CIC_HUMAN			20	7215_7216	+		Prostate(69;0.00682)	1477					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.7147_7148delCT	CCDS12601.1																																																																																				0.604	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			74	50						74	50	---	---	---	---	-	42798858	CT	-	42798857	7	5	422	1	0	1	0	1	0	0	0	0	3424	797	28	0	4503	0	CIC	19	42798857	Frame_Shift_Del	DEL	CT	TCGA-S9-A6U5-01A-12D-A33T-08		42798857	16330126	31	36319											
TGM3	7053	broad.mit.edu	37	chr20	2297883	2297883	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtctttgctgggacccTcaacacaggtaccttgggtg	13	11	2	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:2297883T>C	ENST00000381458.5	+	6	902	c.839T>C	c.(838-840)cTc>cCc	p.L280P	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	280					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)	GCTGGGACCCTCAACACAGGT	0.577																																						ENST00000381458.5																			0				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						c.(838-840)cTc>cCc		transglutaminase 3	L-Glutamine(DB00130)						93	86	88					20																	2297883		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2297883T>C	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.839T>C	20.37:g.2297883T>C	ENSP00000370867:p.Leu280Pro					TGM3_ENST00000463090.1_3'UTR	p.L280P	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			6	902	+			280					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.839T>C	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321414	0.60634	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.90133	-2.62	5.07	5.07	0.68467	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.191941	0.43919	D	0.000515	D	0.95465	0.8527	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95922	0.8931	10	0.72032	D	0.01	.	12.8445	0.57821	0.0:0.0:0.0:1.0	.	280	Q08188	TGM3_HUMAN	P	280	ENSP00000370867:L280P	ENSP00000370867:L280P	L	+	2	0	TGM3	2245883	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.530000	0.53539	2.123000	0.65237	0.533000	0.62120	CTC		0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		4	209	0	0	0	1	0	4	209					C	2297883	T	C	2297883	3	2	422	1	0	0	0	0	1	0	0	0	15828	1551	54	3	861	3	TGM3	20	2297883	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		2297883	60727637	32	36320											
FOXA2	3170	broad.mit.edu	37	chr20	22563390	22563390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacgagtagggcggctttgCgtgcgtgtagctgcgcctgt	17	9	0	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:22563390C>T	ENST00000377115.4	-	3	653	c.472G>A	c.(472-474)Gca>Aca	p.A158T	FOXA2_ENST00000419308.2_Missense_Mutation_p.A164T	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	158					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)			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)					GGCGGCTTTGCGTGCGTGTAG	0.627																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(472-474)Gca>Aca		forkhead box A2							99	85	90					20																	22563390		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563390C>T	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.472G>A	20.37:g.22563390C>T	ENSP00000366319:p.Ala158Thr					FOXA2_ENST00000377115.4_Missense_Mutation_p.A158T|FOXA2_ENST00000319993.4_Missense_Mutation_p.A164T	p.A158T	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	674	-	Lung NSC(19;0.188)		158					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.472G>A	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017938	0.75275	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	T;T;T	0.71103	-0.54;-0.54;-0.54	4.81	4.81	0.61882	Fork-head N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.64402	U	0.000014	T	0.73869	0.3642	M	0.82323	2.585	0.80722	D	1	B;P	0.34699	0.249;0.464	B;B	0.32090	0.046;0.14	T	0.79274	-0.1871	10	0.87932	D	0	.	17.4691	0.87641	0.0:1.0:0.0:0.0	.	158;164	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	T	158;158;164;44	ENSP00000366319:A158T;ENSP00000400341:A158T;ENSP00000315955:A164T	ENSP00000315955:A164T	A	-	1	0	FOXA2	22511390	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.697000	0.84279	2.210000	0.71456	0.574000	0.79327	GCA		0.627	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			4	209	0	0	0	1	0	4	209					T	22563390	C	T	22563390	3	4	422	1	0	0	0	0	1	0	0	0	5990	768	27	1	905	1	FOXA2	20	22563390	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	20265507	22563390	40462130	33	36321											
ZNF335	63925	broad.mit.edu	37	chr20	44579160	44579162	+	In_Frame_Del	DEL	CTT	CTT	-													agcatgtgccgacgcaggtcCttcttgttcttggaggcaaa							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:44579160_44579162delCTT	ENST00000322927.2	-	21	3362_3364	c.3262_3264delAAG	c.(3262-3264)aagdel	p.K1088del	ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1088					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)				GACGCAGGTCCTTCTTGTTCTTG	0.601																																						ENST00000322927.2																			0				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						c.(3262-3264)del		zinc finger protein 335																																				SO:0001651	inframe_deletion	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44579160_44579162delCTT	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.3262_3264delAAG	20.37:g.44579163_44579165delCTT	ENSP00000325326:p.Lys1088del					ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del	p.K1088del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			21	3362_3364	-		Myeloproliferative disorder(115;0.0122)	1088					B4DLG7|Q548D0|Q9H684	In_Frame_Del	DEL	ENST00000322927.2	37	c.3262_3264delAAG	CCDS13389.1																																																																																				0.601	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		34	376						34	376	---	---	---	---	-	44579162	CTT	-	44579160	7	5	422	1	0	1	0	1	0	0	0	0	17849	680	24	0	796	0	ZNF335	20	44579160	In_Frame_Del	DEL	CTT	TCGA-S9-A6U5-01A-12D-A33T-08	22015770	44579160	18446360	34	36322											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	78						7	78	---	---	---	---	-	27394184	GTG	-	27394182	7	5	422	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-S9-A6U5-01A-12D-A33T-08		27394182	20735713	35	36323											
PFKL	5211	broad.mit.edu	37	chr21	45726635	45726635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaagtcttcctcatctacGaggtaaggccaaggtgggct	11	11	3	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:45726635G>A	ENST00000349048.4	+	2	212	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.E100K	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	53	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)		CCTCATCTACGAGGTAAGGCC	0.607																																						ENST00000403390.1																			0				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						c.(298-300)Gag>Aag		phosphofructokinase, liver							152	96	115					21																	45726635		2200	4298	6498	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45726635G>A		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.157G>A	21.37:g.45726635G>A	ENSP00000269848:p.Glu53Lys					PFKL_ENST00000349048.4_Missense_Mutation_p.E53K|PFKL_ENST00000496824.1_3'UTR	p.E100K			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	3	298	+			53					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.298G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175013	0.78564	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80393	-1.37;-1.37	4.43	4.43	0.53597	Phosphofructokinase domain (2);	0.000000	0.85682	U	0.000000	D	0.85869	0.5797	M	0.84511	2.7	0.80722	D	1	D;D	0.59767	0.972;0.986	P;P	0.48677	0.586;0.481	D	0.89414	0.3705	10	0.87932	D	0	-35.3844	16.1941	0.82015	0.0:0.0:1.0:0.0	.	53;100	P17858;P17858-2	K6PL_HUMAN;.	K	53;103;100	ENSP00000269848:E53K;ENSP00000384038:E100K	ENSP00000269848:E53K	E	+	1	0	PFKL	44551063	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	7.456000	0.80751	2.192000	0.70111	0.591000	0.81541	GAG		0.607	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			19	28	0	0	0	1	0	19	28					A	45726635	G	A	45726635	3	1	422	1	0	0	0	0	1	0	0	0	11764	1059	37	1	163	1	PFKL	21	45726635	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	18332453	45726635	2403260	36	36324											
C22orf9	23313	broad.mit.edu	37	chr22	45601748	45601749	+	Frame_Shift_Ins	INS	-	-	G													cccaggcctggcagcttcttINSggagtcccgccggtacacct							TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr22:45601748_45601749insG	ENST00000336156.5	-	3	326_327	c.261_262insC	c.(259-264)tccaagfs	p.K88fs	KIAA0930_ENST00000251993.7_Frame_Shift_Ins_p.K93fs|KIAA0930_ENST00000443310.3_Frame_Shift_Ins_p.K70fs|KIAA0930_ENST00000391627.2_Frame_Shift_Ins_p.K54fs	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	88										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGCAGCTTCTTGGAGTCCCGCC	0.634																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(259-264)tcagaafs		KIAA0930																																				SO:0001589	frameshift_variant	23313						protein binding	g.chr22:45601748_45601749insG	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.262dupC	22.37:g.45601750_45601750dupG	ENSP00000336720:p.Lys88fs					KIAA0930_ENST00000251993.7_Frame_Shift_Ins_p.E93fs|KIAA0930_ENST00000391627.2_Frame_Shift_Ins_p.E54fs|KIAA0930_ENST00000443310.3_Frame_Shift_Ins_p.E70fs	p.E88fs	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			3	326_327	-			88					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Frame_Shift_Ins	INS	ENST00000336156.5	37	c.261_262insC	CCDS33665.1																																																																																				0.634	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		55	60						55	60	---	---	---	---	G	45601749	-	G	45601748	7	5	422	1	0	1	1	0	0	0	0	0	2151	1821	63	0	984	0	C22orf9	22	45601748	Frame_Shift_Ins	INS	-	TCGA-S9-A6U5-01A-12D-A33T-08		45601748	5702818	37	36325											
AR	367	broad.mit.edu	37	chrX	66765616	66765616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggcagcagcagcgggAgagcgagggaggcctcgggg	21	10	0	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chrX:66765616A>G	ENST00000374690.3	+	1	1152	c.628A>G	c.(628-630)Aga>Gga	p.R210G	AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.R210G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	208	Modulating.				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)	CAGCAGCGGGAGAGCGAGGGA	0.577									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				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						c.(628-630)Aga>Gga		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						31	31	31					X																	66765616		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765616A>G	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.628A>G	X.37:g.66765616A>G	ENSP00000363822:p.Arg210Gly					AR_ENST00000396044.3_Missense_Mutation_p.R210G|AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000513847.1_3'UTR	p.R210G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	1152	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	208			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.628A>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	15.21	2.765743	0.49574	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95821	-3.82;-3.82;-3.82	5.15	3.92	0.45320	.	0.786413	0.12487	N	0.464638	D	0.97829	0.9287	M	0.92970	3.365	0.21416	N	0.999691	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.85130	0.995;0.997;0.994	D	0.92093	0.5682	10	0.49607	T	0.09	.	8.0155	0.30379	0.7975:0.2025:0.0:0.0	.	210;210;208	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	G	20;210;210;210;202	ENSP00000363822:R210G;ENSP00000421155:R210G;ENSP00000379359:R210G	ENSP00000363822:R210G	R	+	1	2	AR	66682341	0.785000	0.28726	0.952000	0.39060	0.797000	0.45037	0.936000	0.28938	1.897000	0.54924	0.414000	0.27820	AGA		0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	33	0	0	0	1	0	3	33					G	66765616	A	G	66765616	3	3	422	1	0	0	0	0	1	0	0	0	836	296	11	3	630	3	AR	23	66765616	Missense_Mutation	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08		66765616	88504944	38	36326											
AADACL3	126767	broad.mit.edu	37	chr1	12779671	12779671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtgtactaccacggtggCgggggcgtcatggggagttt	17	8	1	0	rs180881839		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:12779671C>T	ENST00000359318.5	+	2	397	c.192C>T	c.(190-192)ggC>ggT	p.G64G	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	64							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACGGTGGCGGGGGCGTCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17928	0.0		0.001	False		,,,				2504	0.0					ENST00000359318.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(190-192)ggC>ggT		arylacetamide deacetylase-like 3							70	72	71					1																	12779671		1928	4135	6063	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12779671C>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.192C>T	1.37:g.12779671C>T						AADACL3_ENST00000332530.3_Intron	p.G64G	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN		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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	397	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	64					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.192C>T	CCDS41253.1																																																																																				0.537	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		4	161	0	0	0	1	0	4	161					T	12779671	C	T	12779671	2	4	423	1	0	0	0	0	0	0	0	1	12	755	27	1		1	AADACL3	1	12779671	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		12779671	236470950	1	36327											
DENND2D	79961	broad.mit.edu	37	chr1	111743020	111743020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtccagtcctgacctgctCggagttgaagcagtcggcgt	13	12	0	2	rs202084957		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:111743020C>T	ENST00000357640.4	-	1	291	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Intron	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	21					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)		CTGACCTGCTCGGAGTTGAAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20748	0.001		0.0	False		,,,				2504	0.0					ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(61-63)cGa>cAa		DENN/MADD domain containing 2D		C	GLN/ARG	0,4406		0,0,2203	93	73	80		62	1.4	0.7	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND2D	NM_024901.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	21/472	111743020	1,13005	2203	4300	6503	SO:0001583	missense	79961							g.chr1:111743020C>T		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.62G>A	1.37:g.111743020C>T	ENSP00000350266:p.Arg21Gln					DENND2D_ENST00000369752.5_Intron|DENND2D_ENST00000473682.1_5'UTR	p.R21Q	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		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)	1	291	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	21					Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.62G>A	CCDS831.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.73	1.431632	0.25813	0.0	1.16E-4	ENSG00000162777	ENST00000357640	T	0.14144	2.53	4.31	1.37	0.22104	.	.	.	.	.	T	0.03827	0.0108	L	0.50333	1.59	0.54753	D	0.99998	P	0.35348	0.496	B	0.20184	0.028	T	0.33879	-0.9851	9	0.51188	T	0.08	0.0113	6.5849	0.22614	0.0:0.5526:0.351:0.0964	.	21	Q9H6A0	DEN2D_HUMAN	Q	21	ENSP00000350266:R21Q	ENSP00000350266:R21Q	R	-	2	0	DENND2D	111544543	0.074000	0.21230	0.713000	0.30519	0.259000	0.26198	0.215000	0.17562	0.352000	0.24053	-0.149000	0.13747	CGA		0.552	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		9	14	0	0	0	1	0	9	14					T	111743020	C	T	111743020	3	4	423	1	0	0	0	0	1	0	0	0	4431	884	31	1	1401	1	DENND2D	1	111743020	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	98963349	111743020	137507601	2	36328											
MAGI3	260425	broad.mit.edu	37	chr1	114215354	114215354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcagttgtaggcagtcgGcacaatcaggtaaacaaaca	9	8	2	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:114215354G>A	ENST00000307546.9	+	18	3111	c.3036G>A	c.(3034-3036)cgG>cgA	p.R1012R	MAGI3_ENST00000369615.1_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000369611.4_Silent_p.R1012R	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1037					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)		TAGGCAGTCGGCACAATCAGG	0.423																																						ENST00000369615.1																			0				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						c.(3034-3036)cgG>cgA		membrane associated guanylate kinase, WW and PDZ domain containing 3							187	187	187					1																	114215354		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215354G>A	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.3036G>A	1.37:g.114215354G>A						MAGI3_ENST00000369611.4_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000307546.9_Silent_p.R1012R	p.R1012R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		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)	18	3098	+	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)	1037					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3036G>A	CCDS44196.1																																																																																				0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		5	418	0	0	0	1	0	5	418					A	114215354	G	A	114215354	2	1	423	1	0	0	0	0	0	0	0	1	9192	1190	42	2		2	MAGI3	1	114215354	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	2472334	114215354	135035267	3	36329											
HMCN1	83872	broad.mit.edu	37	chr1	186120454	186120454	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atactagaataatacgtgccAaaattaccaatgtacctcgt	5	9	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:186120454A>T	ENST00000271588.4	+	94	14960	c.14731A>T	c.(14731-14733)Aaa>Taa	p.K4911*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4911	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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						AATACGTGCCAAAATTACCAA	0.313																																						ENST00000271588.4																			0				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						c.(14731-14733)Aaa>Taa		hemicentin 1							113	111	112					1																	186120454		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120454A>T	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.14731A>T	1.37:g.186120454A>T	ENSP00000271588:p.Lys4911*					HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			94	14960	+			4911			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.14731A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	56	25.332086	0.99964	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.13	2.59	0.31030	.	0.334076	0.34200	N	0.004170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6518	0.22967	0.7607:0.1496:0.0897:0.0	.	.	.	.	X	4911	.	ENSP00000271588:K4911X	K	+	1	0	HMCN1	184387077	0.981000	0.34729	0.376000	0.26042	0.712000	0.41017	4.122000	0.57910	0.202000	0.20498	0.533000	0.62120	AAA		0.313	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		40	102	0	0	0	1	0	40	102					T	186120454	A	T	186120454	4	4	423	1	0	0	0	0	0	1	0	0	7220	131	5	5	15105	5	HMCN1	1	186120454	Nonsense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	71905100	186120454	63130167	4	36330											
IKBKE	9641	broad.mit.edu	37	chr1	206650062	206650062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgcttcgaaagccccaGcaaaaagcgttcggggtgac	14	11	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:206650062G>A	ENST00000367120.3	+	7	955	c.582G>A	c.(580-582)caG>caA	p.Q194Q	IKBKE_ENST00000537984.1_Silent_p.Q109Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|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)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAAAGCCCCAGCAAAAAGCGT	0.612																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(580-582)caG>caA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							83	71	75					1																	206650062		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206650062G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.582G>A	1.37:g.206650062G>A						IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Silent_p.Q109Q	p.Q194Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			7	955	+	Breast(84;0.137)		194			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.582G>A	CCDS30996.1																																																																																				0.612	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			4	82	0	0	0	1	0	4	82					A	206650062	G	A	206650062	2	1	423	1	0	0	0	0	0	0	0	1	7612	962	34	2		2	IKBKE	1	206650062	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	20529608	206650062	42600559	5	36331											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	11	4	0	2	rs111515821		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29	35	33					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			6	46	1	0	0.0215528	1	0.021848	6	46					T	97869979	G	T	97869979	3	4	423	1	0	0	0	0	1	0	0	0	665	1174	41	4	3238	4	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		97869979	145329394	6	36332											
TTN	7273	broad.mit.edu	37	chr2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttccacttttttcGgaacaggtgttggtttcttt	11	7	1	0	rs539800132	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:179542881G>A	ENST00000591111.1	-	143	33238	c.33014C>T	c.(33013-33015)cCg>cTg	p.P11005L	TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11322L|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10151	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)	p.P10078L(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)			CACTTTTTTCGGAACAGGTGT	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		16675	0.0		0.0	False		,,,				2504	0.002					ENST00000589042.1																			1	Substitution - Missense(1)	p.P10078L(1)	large_intestine(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						c.(33964-33966)cCg>cTg		titin							182	168	172					2																	179542881		1840	4099	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542881G>A	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.33014C>T	2.37:g.179542881G>A	ENSP00000465570:p.Pro11005Leu					TTN_ENST00000591111.1_Missense_Mutation_p.P11005L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	p.P11322L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		145	34189	-			11005			Glu-rich.|Pro-rich.		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	ENST00000591111.1	37	c.33965C>T		.	.	.	.	.	.	.	.	.	.	G	14.25	2.479357	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.70749	-0.51	5.8	-2.63	0.06133	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.56001	0.1956	L	0.45352	1.415	0.36563	D	0.872538	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.32771	-0.9894	9	0.87932	D	0	.	5.3903	0.16240	0.4164:0.2475:0.3361:0.0	.	11005;10551	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	L	10078;746	ENSP00000343764:P10078L	ENSP00000343764:P10078L	P	-	2	0	TTN	179251126	0.000000	0.05858	0.318000	0.25279	0.832000	0.47134	0.094000	0.15107	-0.936000	0.03723	-0.145000	0.13849	CCG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	146	0	0	0	1	0	29	146					A	179542881	G	A	179542881	3	1	423	1	0	0	0	0	1	0	0	0	16732	1116	39	1	70436	1	TTN	2	179542881	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	81672902	179542881	63656492	7	36333											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			66	122	0	0	0	1	0	66	122					T	209113112	C	T	209113112	3	4	423	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	29570231	209113112	34086261	8	36334											
RNF25	64320	broad.mit.edu	37	chr2	219529149	219529149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcagaggaggtggcAaagtggattggacggctggt	18	7	0	1	rs370879916		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:219529149A>C	ENST00000295704.2	-	10	1351	c.911T>G	c.(910-912)tTg>tGg	p.L304W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	304					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTGGCAAAGTGGATTG	0.547																																						ENST00000295704.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(910-912)tTg>tGg		ring finger protein 25							88	84	86					2																	219529149		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529149A>C		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.911T>G	2.37:g.219529149A>C	ENSP00000295704:p.Leu304Trp						p.L304W	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1351	-		Renal(207;0.0474)	304					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.911T>G	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	A	9.958	1.221975	0.22457	.	.	ENSG00000163481	ENST00000295704	T	0.47869	0.83	5.09	2.65	0.31530	.	0.231241	0.34531	N	0.003883	T	0.38241	0.1033	L	0.44542	1.39	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.27157	-1.0082	10	0.46703	T	0.11	-20.2711	2.2675	0.04082	0.5996:0.1609:0.0848:0.1547	.	304	Q96BH1	RNF25_HUMAN	W	304	ENSP00000295704:L304W	ENSP00000295704:L304W	L	-	2	0	RNF25	219237393	0.001000	0.12720	0.402000	0.26371	0.246000	0.25737	-0.192000	0.09587	0.470000	0.27294	0.459000	0.35465	TTG		0.547	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		26	166	0	0	0	1	0	26	166					C	219529149	A	C	219529149	3	2	423	1	0	0	0	0	1	0	0	0	13485	131	5	5	472	5	RNF25	2	219529149	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	10416037	219529149	23670224	9	36335											
TSEN2	80746	broad.mit.edu	37	chr3	12544759	12544759	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacagtatttctgtcttgcAggtatcagcatagtgttgag	10	6	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:12544759A>G	ENST00000284995.6	+	5	695		c.e5-1		TSEN2_ENST00000454502.2_Splice_Site|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000444864.1_Splice_Site	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGTCTTGCAGGTATCAGCA	0.433																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.e5-1		TSEN2 tRNA splicing endonuclease subunit							82	80	81					3																	12544759		2203	4300	6503	SO:0001630	splice_region_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12544759A>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.309-1A>G	3.37:g.12544759A>G						TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000284995.6_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site		NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			5	695	+								B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Splice_Site	SNP	ENST00000284995.6	37		CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308952	0.23821	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2732	0.49150	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSEN2	12519759	1.000000	0.71417	0.991000	0.47740	0.177000	0.22998	5.104000	0.64584	1.981000	0.57761	0.496000	0.49642	.		0.433	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	Intron	5	133	0	0	0	1	0	5	133					G	12544759	A	G	12544759	5	3	423	1	0	0	0	0	0	0	1	0	16609	202	7	3	321	3	TSEN2	3	12544759	Splice_Site	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		12544759	185477671	10	36336											
LRRC2	79442	broad.mit.edu	37	chr3	46568977	46568977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaatggtccccactgaCgactaacagagtgagcttct	8	13	1	3	rs201670997	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:46568977C>T	ENST00000395905.3	-	7	1260	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	290										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCCCCACTGACGACTAACAGA	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		19246	0.002		0.0	False		,,,				2504	0.0					ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(868-870)Gtc>Atc		leucine rich repeat containing 2							101	97	98					3																	46568977		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46568977C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.868G>A	3.37:g.46568977C>T	ENSP00000379241:p.Val290Ile					LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	7	1260	-		Ovarian(412;0.0563)	290					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.868G>A	CCDS2741.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.39	3.109008	0.56398	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.22134	1.97;1.97	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000006	T	0.30103	0.0754	N	0.20685	0.6	0.52501	D	0.999954	D	0.69078	0.997	D	0.70487	0.969	T	0.04509	-1.0946	10	0.37606	T	0.19	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	290	Q9BYS8	LRRC2_HUMAN	I	290	ENSP00000379241:V290I;ENSP00000296144:V290I	ENSP00000296144:V290I	V	-	1	0	LRRC2	46543981	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	6.486000	0.73629	2.482000	0.83794	0.650000	0.86243	GTC		0.483	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			51	89	0	0	0	1	0	51	89					T	46568977	C	T	46568977	3	4	423	1	0	0	0	0	1	0	0	0	8976	536	19	1	259	1	LRRC2	3	46568977	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	34024218	46568977	151453453	11	36337											
RPN1	6184	broad.mit.edu	37	chr3	128344776	128344776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcaacaatcacagggcGgccaaatgtgtccagatagg	13	9	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:128344776G>A	ENST00000296255.3	-	7	1264	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	RPN1_ENST00000497289.1_Missense_Mutation_p.R234C|RPN1_ENST00000490166.1_5'Flank	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	406					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ATCACAGGGCGGCCAAATGTG	0.478			T	EVI1	AML																																	ENST00000296255.3				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13						c.(1216-1218)Cgc>Tgc		ribophorin I							135	124	128					3																	128344776		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128344776G>A		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1216C>T	3.37:g.128344776G>A	ENSP00000296255:p.Arg406Cys					RPN1_ENST00000497289.1_Missense_Mutation_p.R234C	p.R406C	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	7	1264	-			406					B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.1216C>T	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502305	0.85176	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.53	5.53	0.82687	.	0.051604	0.85682	D	0.000000	D	0.87216	0.6122	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90163	0.4229	9	0.87932	D	0	-12.2075	19.4694	0.94956	0.0:0.0:1.0:0.0	.	406	P04843	RPN1_HUMAN	C	406;234;177;380	.	ENSP00000296255:R406C	R	-	1	0	RPN1	129827466	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.788000	0.62439	2.587000	0.87381	0.591000	0.81541	CGC		0.478	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		55	81	0	0	0	1	0	55	81					A	128344776	G	A	128344776	3	1	423	1	0	0	0	0	1	0	0	0	13607	1116	39	1	623	1	RPN1	3	128344776	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	81775799	128344776	69677654	12	36338											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						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						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79	76	77					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	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.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	168	0	0	0	1	0	4	168					A	129370592	T	A	129370592	3	1	423	1	0	0	0	0	1	0	0	0	15989	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	1025816	129370592	68651838	13	36339											
KNG1	3827	broad.mit.edu	37	chr3	186445048	186445048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtggctggattgaactttcGaattacctactcaattgtgc	10	8	1	1	rs144123648		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:186445048G>A	ENST00000265023.4	+	5	799	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	196	Cystatin kininogen-type 2. {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)		TTGAACTTTCGAATTACCTAC	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		15361	0.0		0.001	False		,,,				2504	0.0					ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(586-588)cGa>cAa		kininogen 1	Ouabain(DB01092)	G	GLN/ARG,GLN/ARG,	0,4406		0,0,2203	102	103	103		587,587,	-2	0	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	43,43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,	196/428,196/645,	186445048	1,13005	2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186445048G>A		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.587G>A	3.37:g.186445048G>A	ENSP00000265023:p.Arg196Gln					KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	p.R196Q	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	5	799	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		196			Cystatin 2.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.587G>A	CCDS43183.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.607	-0.826630	0.02734	0.0	1.16E-4	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000432028	T;T	0.25579	1.79;1.79	4.98	-2.04	0.07343	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.852440	0.02350	N	0.075800	T	0.09069	0.0224	N	0.01705	-0.755	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.006	T	0.21552	-1.0242	10	0.11182	T	0.66	0.2475	5.3098	0.15823	0.6339:0.0:0.2378:0.1282	.	196;196	P01042;P01042-2	KNG1_HUMAN;.	Q	196;196;184	ENSP00000287611:R196Q;ENSP00000265023:R196Q	ENSP00000265023:R196Q	R	+	2	0	KNG1	187927742	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.412000	0.07132	-0.390000	0.07774	-2.992000	0.00078	CGA		0.368	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		8	141	0	0	0	1	0	8	141					A	186445048	G	A	186445048	3	1	423	1	0	0	0	0	1	0	0	0	8427	1058	37	1	605	1	KNG1	3	186445048	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	57074456	186445048	11577382	14	36340											
PCDH7	5099	broad.mit.edu	37	chr4	30725788	30725788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaatggctatgaagccgGcaaaaaagatcacgaagact	9	7	1	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:30725788G>A	ENST00000361762.2	+	1	3752	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	915					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TATGAAGCCGGCAAAAAAGAT	0.388																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2743-2745)gGc>gAc		protocadherin 7							85	88	87					4																	30725788		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725788G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2744G>A	4.37:g.30725788G>A	ENSP00000355243:p.Gly915Asp					PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3752	+			915					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2744G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525853	0.64860	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.36878	1.23;1.23	5.16	5.16	0.70880	Protocadherin (1);	.	.	.	.	T	0.59810	0.2221	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.61598	-0.7030	9	0.72032	D	0.01	.	18.8391	0.92174	0.0:0.0:1.0:0.0	.	915;868;915	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	D	915;915;868	ENSP00000355243:G915D;ENSP00000441802:G915D	ENSP00000330302:G868D	G	+	2	0	PCDH7	30334886	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.263000	0.95617	2.683000	0.91414	0.655000	0.94253	GGC		0.388	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	196	0	0	0	1	0	4	196					A	30725788	G	A	30725788	3	1	423	1	0	0	0	0	1	0	0	0	11516	1203	42	2	2746	2	PCDH7	4	30725788	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		30725788	160428488	15	36341											
SPEF2	79925	broad.mit.edu	37	chr5	35691228	35691228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccatattcttcacagGctagctgaaaaatctcttcc	7	12	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr5:35691228G>T	ENST00000356031.3	+	11	1768	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.R538S|SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	538					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTCACAGGCTAGCTGAAA	0.413																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1612-1614)agG>agT		sperm flagellar 2							129	125	126					5																	35691228		1873	4094	5967	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691228G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1614G>T	5.37:g.35691228G>T	ENSP00000348314:p.Arg538Ser					SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.R538S	p.R538S			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1614	+	all_lung(31;7.56e-05)		538					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1614G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704529	0.30232	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.36520	3.25;3.13;3.25;1.25	5.6	-1.12	0.09808	.	0.135381	0.48767	D	0.000169	T	0.46405	0.1391	M	0.78637	2.42	0.20196	N	0.99993	P;D;P	0.56035	0.92;0.974;0.956	B;P;P	0.54372	0.386;0.75;0.567	T	0.43750	-0.9372	10	0.44086	T	0.13	.	9.563	0.39380	0.6692:0.0:0.3308:0.0	.	538;538;538	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	S	538;538;538;49	ENSP00000348314:R538S;ENSP00000421593:R538S;ENSP00000412125:R538S;ENSP00000421744:R49S	ENSP00000348314:R538S	R	+	3	2	SPEF2	35726985	0.998000	0.40836	0.081000	0.20488	0.016000	0.09150	1.571000	0.36450	-0.395000	0.07715	-0.966000	0.02617	AGG		0.413	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		9	200	1	0	7.48243e-07	1	7.91e-07	9	200					T	35691228	G	T	35691228	3	4	423	1	0	0	0	0	1	0	0	0	15034	1194	42	4	1677	4	SPEF2	5	35691228	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		35691228	145224032	16	36342											
UBR2	23304	broad.mit.edu	37	chr6	42620362	42620362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacataatggatatgcctgGtcagagtccatgctgcaaag	11	8	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42620362G>A	ENST00000372899.1	+	25	3006	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*	UBR2_ENST00000372901.1_Nonsense_Mutation_p.W916*|UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	916					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)			GATATGCCTGGTCAGAGTCCA	0.368																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2746-2748)tgG>tgA		ubiquitin protein ligase E3 component n-recognin 2							148	133	138					6																	42620362		2203	4300	6503	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620362G>A	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.2748G>A	6.37:g.42620362G>A	ENSP00000361990:p.Trp916*					UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*|UBR2_ENST00000372899.1_Nonsense_Mutation_p.W916*	p.W916*			Q8IWV8	UBR2_HUMAN	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)		25	3006	+	Colorectal(47;0.196)		916					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.2748G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	43	10.341367	0.99387	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-16.4596	19.4267	0.94743	0.0:0.0:1.0:0.0	.	.	.	.	X	916;916;420	.	ENSP00000361974:W420X	W	+	3	0	UBR2	42728340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.582000	0.87167	0.655000	0.94253	TGG		0.368	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		6	248	0	0	0	1	0	6	248					A	42620362	G	A	42620362	4	1	423	1	0	0	0	0	0	1	0	0	16899	1270	44	2	2992	2	UBR2	6	42620362	Nonsense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		42620362	128494705	17	36343											
KIAA0240	23506	broad.mit.edu	37	chr6	42832831	42832831	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caagcatcctagcagattcgCacttggagatgacgtgtaac	10	10	0	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42832831C>G	ENST00000314073.5	+	13	3063	c.2887C>G	c.(2887-2889)Cac>Gac	p.H963D	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H963D			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	963																	AGCAGATTCGCACTTGGAGAT	0.498																																						ENST00000314073.5																			0											c.(2887-2889)Cac>Gac		GLTSCR1-like							76	75	76					6																	42832831		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832831C>G	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.2887C>G	6.37:g.42832831C>G	ENSP00000313933:p.His963Asp					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H963D	p.H963D							13	3063	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2887C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	9.552	1.116114	0.20795	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.42513	0.97;0.97	5.34	5.34	0.76211	.	0.424426	0.24922	N	0.034533	T	0.11665	0.0284	N	0.24115	0.695	0.25115	N	0.990689	B	0.18310	0.027	B	0.13407	0.009	T	0.03175	-1.1064	10	0.34782	T	0.22	-7.6434	5.7803	0.18301	0.1895:0.6937:0.0:0.1168	.	963	Q6AI39	K0240_HUMAN	D	963	ENSP00000313933:H963D;ENSP00000377723:H963D	ENSP00000313933:H963D	H	+	1	0	KIAA0240	42940809	0.857000	0.29778	0.435000	0.26784	0.938000	0.57974	1.440000	0.35024	2.651000	0.90000	0.650000	0.86243	CAC		0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		10	101	0	0	0	1	0	10	101					G	42832831	C	G	42832831	3	3	423	1	0	0	0	0	1	0	0	0	8164	710	25	4	2929	4	KIAA0240	6	42832831	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	212469	42832831	128282236	18	36344											
AHR	196	broad.mit.edu	37	chr7	17379702	17379702	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaaccaaaagcatggAttaaatccacagtcagccat	6	11	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:17379702A>T	ENST00000242057.4	+	10	2896	c.2253A>T	c.(2251-2253)ggA>ggT	p.G751G		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	751					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AAAAGCATGGATTAAATCCAC	0.463																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2251-2253)ggA>ggT		aryl hydrocarbon receptor							117	116	116					7																	17379702		2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379702A>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2253A>T	7.37:g.17379702A>T							p.G751G	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2896	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		751					A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.2253A>T	CCDS5366.1																																																																																				0.463	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		44	232	0	0	0	1	0	44	232					T	17379702	A	T	17379702	2	4	423	1	0	0	0	0	0	0	0	1	416	320	12	5		5	AHR	7	17379702	Silent	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		17379702	141758961	19	36345											
NPC1L1	29881	broad.mit.edu	37	chr7	44571716	44571716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtgcagcaggaaggggGcataagccttttggaagaag	15	7	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:44571716G>A	ENST00000289547.4	-	9	2565	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	837					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)	CAGGAAGGGGGCATAAGCCTT	0.647																																						ENST00000289547.4																			0				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						c.(2509-2511)gCc>gTc		NPC1-like 1	Ezetimibe(DB00973)						68	64	66					7																	44571716		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44571716G>A		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.2510C>T	7.37:g.44571716G>A	ENSP00000289547:p.Ala837Val					NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V	p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			9	2565	-			837					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2510C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	N	0.276	-0.989574	0.02162	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94497	-3.39;-3.39;-3.44	4.29	-3.03	0.05429	.	0.721854	0.13114	N	0.412783	D	0.88683	0.6503	L	0.37800	1.135	0.09310	N	1	B;B;B	0.14805	0.011;0.009;0.001	B;B;B	0.17979	0.018;0.02;0.002	T	0.74811	-0.3538	10	0.51188	T	0.08	-0.8491	7.7043	0.28640	0.5234:0.1136:0.363:0.0	.	837;837;837	B7ZLE6;Q17RV5;D3DVK9	.;.;.	V	837	ENSP00000289547:A837V;ENSP00000370552:A837V;ENSP00000438033:A837V	ENSP00000289547:A837V	A	-	2	0	NPC1L1	44538241	0.038000	0.19896	0.000000	0.03702	0.039000	0.13416	0.426000	0.21363	-1.370000	0.02144	-1.786000	0.00637	GCC		0.647	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	140	0	0	0	1	0	4	140					A	44571716	G	A	44571716	3	1	423	1	0	0	0	0	1	0	0	0	10571	1203	42	2	1617	2	NPC1L1	7	44571716	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	27192014	44571716	114566947	20	36346											
CASP2	835	broad.mit.edu	37	chr7	142989399	142989399	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgtcttaggccaaaGtgggcagtttcagccagaat	11	8	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:142989399G>T	ENST00000310447.5	+	3	473	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	CASP2_ENST00000392925.2_Missense_Mutation_p.V78L|RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	78	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|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 neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTAGGCCAAAGTGGGCAGTTT	0.443																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(232-234)Gtg>Ttg		caspase 2, apoptosis-related cysteine peptidase							114	115	115					7																	142989399		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142989399G>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.232G>T	7.37:g.142989399G>T	ENSP00000312664:p.Val78Leu					CASP2_ENST00000392925.2_Missense_Mutation_p.V78L|CASP2_ENST00000493642.1_3'UTR	p.V78L	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			3	473	+	Melanoma(164;0.059)		78			CARD.		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.232G>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969463	0.34754	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.20200	2.09;2.09	5.68	4.81	0.61882	DEATH-like (2);Caspase Recruitment (3);	0.782162	0.12682	N	0.447939	T	0.12987	0.0315	N	0.14661	0.345	0.20563	N	0.999885	B;B	0.24317	0.101;0.03	B;B	0.25506	0.061;0.05	T	0.26326	-1.0106	10	0.28530	T	0.3	.	9.0658	0.36462	0.0767:0.0:0.7689:0.1545	.	78;78	E9PDN0;P42575	.;CASP2_HUMAN	L	78;78;47	ENSP00000312664:V78L;ENSP00000376656:V78L	ENSP00000312664:V78L	V	+	1	0	CASP2	142699521	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	2.352000	0.44080	1.423000	0.47198	0.650000	0.86243	GTG		0.443	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		11	137	1	0	4.3838e-07	1	4.70147e-07	11	137					T	142989399	G	T	142989399	3	4	423	1	0	0	0	0	1	0	0	0	2671	1029	36	4	242	4	CASP2	7	142989399	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	98417683	142989399	16149264	21	36347											
XKR6	286046	broad.mit.edu	37	chr8	10756203	10756203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatccagaaggccatggcGcaccagtgaaccaccacgaa	10	13	0	3	rs150672872		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:10756203G>A	ENST00000416569.2	-	3	1211	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C	XKR6_ENST00000304437.2_Silent_p.C116C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	395						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGGCCATGGCGCACCAGTGAA	0.512																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1183-1185)tgC>tgT		XK, Kell blood group complex subunit-related family, member 6		G		0,4406		0,0,2203	95	89	91		1185	-0.7	1	8	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XKR6	NM_173683.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		395/642	10756203	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10756203G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 7", "chromosome 8 open reading frame 21", "X Kell blood group precursor-related family, member 6", "chromosome 8 open reading frame 5"	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1185C>T	8.37:g.10756203G>A						XKR6_ENST00000304437.2_Silent_p.C116C	p.C395C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1211	-			395					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1185C>T	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	G	4.279	0.051014	0.08243	0.0	1.16E-4	ENSG00000171044	ENST00000382461	.	.	.	5.49	-0.721	0.11189	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54302	-0.8314	4	.	.	.	-1.4679	11.1516	0.48462	0.4778:0.0:0.5222:0.0	.	.	.	.	V	172	.	.	A	-	2	0	XKR6	10793613	0.772000	0.28567	0.998000	0.56505	0.998000	0.95712	-0.096000	0.11059	-0.047000	0.13423	0.561000	0.74099	GCG		0.512	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		17	98	0	0	0	1	0	17	98					A	10756203	G	A	10756203	2	1	423	1	0	0	0	0	0	0	0	1	17432	1079	38	1		1	XKR6	8	10756203	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		10756203	135607819	22	36348											
FAM167A	83648	broad.mit.edu	37	chr8	11301717	11301717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccctcctccaagctcgcCtgtggctccgcagccggcct	9	21	0	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:11301717C>A	ENST00000528897.1	-	2	823	c.204G>T	c.(202-204)caG>caT	p.Q68H	FAM167A_ENST00000284486.4_Missense_Mutation_p.Q68H|FAM167A_ENST00000531564.1_5'Flank|FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	68										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CCAAGCTCGCCTGTGGCTCCG	0.692																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(202-204)caG>caT		family with sequence similarity 167, member A							26	31	29					8																	11301717		2200	4297	6497	SO:0001583	missense	83648							g.chr8:11301717C>A		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"chromosome 8 open reading frame 13"	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.204G>T	8.37:g.11301717C>A	ENSP00000436655:p.Gln68His					FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H|FAM167A_ENST00000528897.1_Missense_Mutation_p.Q68H	p.Q68H	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			2	742	-			68					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.204G>T	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411018	0.25465	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	3.68	2.77	0.32553	.	0.651348	0.13792	N	0.362437	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.21071	0.051	B	0.25405	0.06	T	0.38394	-0.9663	10	0.62326	D	0.03	-22.6628	11.2248	0.48877	0.1848:0.8152:0.0:0.0	.	68	Q96KS9	F167A_HUMAN	H	68	ENSP00000284486:Q68H;ENSP00000432232:Q68H;ENSP00000436655:Q68H;ENSP00000431951:Q68H	ENSP00000284486:Q68H	Q	-	3	2	FAM167A	11339127	0.092000	0.21681	0.031000	0.17742	0.063000	0.16089	0.142000	0.16096	0.682000	0.31407	0.655000	0.94253	CAG		0.692	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			4	124	1	0	1	1	1	4	124					A	11301717	C	A	11301717	3	1	423	1	0	0	0	0	1	0	0	0	5483	680	24	4	448	4	FAM167A	8	11301717	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	545514	11301717	135062305	23	36349											
IDO2	169355	broad.mit.edu	37	chr8	39840263	39840263	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcagacttggtgctgacGaactggaccaaaaaagatcc	9	11	1	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:39840263G>A	ENST00000389060.4	+	4	408	c.408G>A	c.(406-408)acG>acA	p.T136T	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Silent_p.T149T|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	136					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						TGGTGCTGACGAACTGGACCA	0.468																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(445-447)acG>acA		indoleamine 2,3-dioxygenase 2							61	60	60					8																	39840263		1885	4108	5993	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39840263G>A	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.408G>A	8.37:g.39840263G>A						RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Silent_p.T136T|IDO2_ENST00000343295.4_3'UTR	p.T149T	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			5	689	+			136					A4UD41	Silent	SNP	ENST00000389060.4	37	c.447G>A																																																																																					0.468	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		12	20	0	0	0	1	0	12	20					A	39840263	G	A	39840263	2	1	423	1	0	0	0	0	0	0	0	1	7502	1045	37	1		1	IDO2	8	39840263	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	28538546	39840263	106523759	24	36350											
MTSS1	9788	broad.mit.edu	37	chr8	125603405	125603405	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacctcgaaaactgccTcagcttggcttcaatgcttc	6	15	3	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:125603405T>G	ENST00000518547.1	-	4	753	c.280A>C	c.(280-282)Agg>Cgg	p.R94R	MTSS1_ENST00000378017.3_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.R94R	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	94	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAACTGCCTCAGCTTGGCT	0.512																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(280-282)Agg>Cgg		metastasis suppressor 1							173	131	146					8																	125603405		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125603405T>G	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.280A>C	8.37:g.125603405T>G						MTSS1_ENST00000325064.5_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Silent_p.R94R	p.R94R	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	753	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		94			IMD.		J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.280A>C	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	T	9.327	1.059473	0.19987	.	.	ENSG00000170873	ENST00000522162	.	.	.	5.77	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.9679	14.427	0.67222	0.0:0.0:0.4827:0.5173	.	.	.	.	C	88	.	.	X	-	3	0	MTSS1	125672586	0.813000	0.29090	0.998000	0.56505	0.869000	0.49853	0.105000	0.15333	0.094000	0.17404	-0.321000	0.08615	TGA		0.512	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		15	176	0	0	0	1	0	15	176					G	125603405	T	G	125603405	2	3	423	1	0	0	0	0	0	0	0	1	9962	1550	54	5		5	MTSS1	8	125603405	Silent	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	85763142	125603405	20760617	25	36351											
TOP1MT	116447	broad.mit.edu	37	chr8	144406702	144406702	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatgtacttgatggagttctGaacgctctcggtccaagctg	12	9	2	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144406702G>C	ENST00000329245.4	-	6	803	c.769C>G	c.(769-771)Cag>Gag	p.Q257E	TOP1MT_ENST00000523676.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	257					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ATGGAGTTCTGAACGCTCTCG	0.627																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(475-477)Cag>Gag		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						132	111	118					8																	144406702		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406702G>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.769C>G	8.37:g.144406702G>C	ENSP00000328835:p.Gln257Glu					TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q257E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E	p.Q159E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		7	880	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		257					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.475C>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198087	0.38806	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	3.55	3.55	0.40652	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.195954	0.25122	U	0.032962	T	0.59293	0.2183	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.59357	0.985;0.971	P;P	0.52159	0.691;0.572	T	0.69548	-0.5116	10	0.56958	D	0.05	.	14.1225	0.65198	0.0:0.0:1.0:0.0	.	52;257	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	257;159;159;159;159;159	ENSP00000328835:Q257E;ENSP00000428369:Q159E;ENSP00000429169:Q159E;ENSP00000429181:Q159E;ENSP00000427998:Q159E;ENSP00000429177:Q159E	ENSP00000328835:Q257E	Q	-	1	0	TOP1MT	144478077	1.000000	0.71417	0.154000	0.22540	0.005000	0.04900	8.052000	0.89448	1.495000	0.48549	0.609000	0.83330	CAG		0.627	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		23	201	0	0	0	1	0	23	201					C	144406702	G	C	144406702	3	2	423	1	0	0	0	0	1	0	0	0	16361	1299	45	4	1072	4	TOP1MT	8	144406702	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	18803297	144406702	1957320	26	36352											
ZC3H3	23144	broad.mit.edu	37	chr8	144522390	144522390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggaagcgggaggggatgagGaggaggaggaggaggaggaa	25	1	0	1	rs267601811		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144522390G>T	ENST00000262577.5	-	11	2667	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			aggggatgaggaggaggagga	0.657																																						ENST00000262577.5																			1	Substitution - Missense(1)	p.S879F(1)	skin(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2637)tCc>tAc		zinc finger CCCH-type containing 3							30	29	29					8																	144522390		2203	4298	6501	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522390G>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2636C>A	8.37:g.144522390G>T	ENSP00000262577:p.Ser879Tyr						p.S879Y	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2667	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.2636C>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263668	0.59431	.	.	ENSG00000014164	ENST00000262577	T	0.58210	0.35	4.04	4.04	0.47022	.	0.788333	0.10701	N	0.643991	T	0.45716	0.1356	L	0.27053	0.805	0.09310	N	1	P	0.50943	0.94	P	0.44860	0.462	T	0.37244	-0.9714	10	0.66056	D	0.02	-3.2232	12.9046	0.58145	0.0:0.0:1.0:0.0	.	879	Q8IXZ2	ZC3H3_HUMAN	Y	879	ENSP00000262577:S879Y	ENSP00000262577:S879Y	S	-	2	0	ZC3H3	144593533	0.025000	0.19082	0.006000	0.13384	0.122000	0.20287	2.137000	0.42130	1.831000	0.53308	0.467000	0.42956	TCC		0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		3	23	1	0	0.004672	1	0.00480178	3	23					T	144522390	G	T	144522390	3	4	423	1	0	0	0	0	1	0	0	0	17566	1174	41	4	218	4	ZC3H3	8	144522390	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	115688	144522390	1841632	27	36353											
RUSC2	9853	broad.mit.edu	37	chr9	35555653	35555653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccgagcagagagcctgGcccggggaggtggtgagggc	20	10	1	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:35555653G>A	ENST00000455600.1	+	3	3180	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	871						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGAGCCTGGCCCGGGGAGG	0.627																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2611-2613)Gcc>Acc		RUN and SH3 domain containing 2							33	35	34					9																	35555653		2203	4299	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555653G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2611G>A	9.37:g.35555653G>A	ENSP00000393922:p.Ala871Thr						p.A871T	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	3180	+			871					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2611G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821230	0.16678	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22539	1.95;1.95	4.14	1.22	0.21188	.	0.798511	0.11883	N	0.520335	T	0.10078	0.0247	N	0.08118	0	0.22873	N	0.998624	B	0.10296	0.003	B	0.06405	0.002	T	0.28138	-1.0053	10	0.52906	T	0.07	-1.5265	6.4137	0.21705	0.3266:0.0:0.6734:0.0	.	871	Q8N2Y8	RUSC2_HUMAN	T	871	ENSP00000355177:A871T;ENSP00000393922:A871T	ENSP00000355177:A871T	A	+	1	0	RUSC2	35545653	0.983000	0.35010	0.998000	0.56505	0.983000	0.72400	1.834000	0.39171	0.145000	0.18977	-0.142000	0.14014	GCC		0.627	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		13	73	0	0	0	1	0	13	73					A	35555653	G	A	35555653	3	1	423	1	0	0	0	0	1	0	0	0	13751	1203	42	2	2617	2	RUSC2	9	35555653	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		35555653	105657778	28	36354											
DFNB31	25861	broad.mit.edu	37	chr9	117240942	117240942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgagggtggggagatgCtgcggccctgcgggtccacc	19	13	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:117240942C>T	ENST00000362057.3	-	2	896	c.728G>A	c.(727-729)aGc>aAc	p.S243N	DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	243					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGAGATGCTGCGGCCCTG	0.677																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(727-729)aGc>aAc		deafness, autosomal recessive 31							35	34	34					9																	117240942		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117240942C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.728G>A	9.37:g.117240942C>T	ENSP00000354623:p.Ser243Asn					DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N|DFNB31_ENST00000265134.6_5'UTR	p.S243N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			2	896	-			243					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.728G>A	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062810	0.76187	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.19105	3.0;2.17	5.41	5.41	0.78517	PDZ/DHR/GLGF (1);	0.080279	0.85682	D	0.000000	T	0.43389	0.1245	M	0.67953	2.075	0.58432	D	0.999996	D;P;P	0.63880	0.993;0.701;0.568	P;B;B	0.60886	0.88;0.388;0.297	T	0.12811	-1.0533	10	0.37606	T	0.19	-45.2798	19.2001	0.93708	0.0:1.0:0.0:0.0	.	243;243;243	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	N	243	ENSP00000354623:S243N;ENSP00000363170:S243N	ENSP00000354623:S243N	S	-	2	0	DFNB31	116280763	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.421000	0.80204	2.533000	0.85409	0.455000	0.32223	AGC		0.677	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		7	34	0	0	0	1	0	7	34					T	117240942	C	T	117240942	3	4	423	1	0	0	0	0	1	0	0	0	4455	797	28	2	2039	2	DFNB31	9	117240942	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	81685289	117240942	23972489	29	36355											
KLF6	1316	broad.mit.edu	37	chr10	3824266	3824266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggaggactggaagaTatcttcagttcggattcctc	10	10	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:3824266T>C	ENST00000497571.1	-	2	503	c.243A>G	c.(241-243)atA>atG	p.I81M	KLF6_ENST00000469435.1_Missense_Mutation_p.I81M|KLF6_ENST00000173785.4_5'Flank|KLF6_ENST00000542957.1_Missense_Mutation_p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	81					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)		GACTGGAAGATATCTTCAGTT	0.468											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)atA>atG		Kruppel-like factor 6							151	162	158					10																	3824266		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824266T>C	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.243A>G	10.37:g.3824266T>C	ENSP00000419923:p.Ile81Met		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000542957.1_Missense_Mutation_p.I81M|KLF6_ENST00000469435.1_Missense_Mutation_p.I81M	p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	503	-			81					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.243A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	1.317	-0.600452	0.03744	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.54279	3.36;0.58;0.8	4.91	-2.59	0.06209	.	0.961544	0.08686	N	0.908728	T	0.40546	0.1121	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.28258	0.087;0.004;0.038;0.205	B;B;B;B	0.24541	0.043;0.011;0.054;0.047	T	0.29058	-1.0024	10	0.41790	T	0.15	.	2.7015	0.05149	0.4112:0.3438:0.136:0.109	.	81;81;81;81	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	M	81	ENSP00000419923:I81M;ENSP00000445301:I81M;ENSP00000419079:I81M	ENSP00000419079:I81M	I	-	3	3	KLF6	3814266	0.859000	0.29813	0.001000	0.08648	0.150000	0.21749	0.401000	0.20948	-0.806000	0.04398	-1.646000	0.00762	ATA		0.468	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			13	320	0	0	0	1	0	13	320					C	3824266	T	C	3824266	3	2	423	1	0	0	0	0	1	0	0	0	8350	1396	49	3	620	3	KLF6	10	3824266	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08		3824266	131710481	30	36356											
ITIH5	80760	broad.mit.edu	37	chr10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccctgccttctgaggccGcacaggcacatctgtcttca	8	15	4	1	rs547413516		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					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						TTCTGAGGCCGCACAGGCACA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20788	0.001		0.0	False		,,,				2504	0.0					ENST00000256861.6																			0				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						c.(1642-1644)Cgg>Tgg		inter-alpha-trypsin inhibitor heavy chain family, member 5							66	63	64					10																	7618752		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618752G>A			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.1642C>T	10.37:g.7618752G>A	ENSP00000256861:p.Arg548Trp					ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W	p.R548W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1720	-			548					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1642C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173195	0.78452	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.41	4.47	0.54385	.	0.880038	0.10177	N	0.706378	T	0.17534	0.0421	.	.	.	0.19775	N	0.99995	D;D;D	0.60160	0.961;0.987;0.972	B;B;P	0.45138	0.191;0.28;0.471	T	0.13308	-1.0514	9	0.87932	D	0	-14.6668	11.1572	0.48495	0.1438:0.7182:0.138:0.0	.	548;548;334	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	W	548;548;334;330;548	ENSP00000256861:R548W;ENSP00000380333:R548W;ENSP00000298441:R334W;ENSP00000387969:R330W;ENSP00000380332:R548W	ENSP00000256861:R548W	R	-	1	2	ITIH5	7658758	0.569000	0.26643	0.810000	0.32431	0.029000	0.11900	0.932000	0.28884	1.281000	0.44480	-0.357000	0.07601	CGG		0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	109	0	0	0	1	0	4	109					A	7618752	G	A	7618752	3	1	423	1	0	0	0	0	1	0	0	0	7907	1086	38	1	1329	1	ITIH5	10	7618752	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	3794486	7618752	127915995	31	36357											
ANK3	288	broad.mit.edu	37	chr10	61830854	61830854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgactcaatctggtccGcatccagtggtggaggaggg	14	9	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:61830854G>A	ENST00000280772.2	-	37	9976	c.9785C>T	c.(9784-9786)gCg>gTg	p.A3262V	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)	3262					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						AATCTGGTCCGCATCCAGTGG	0.438																																						ENST00000280772.1																			0				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						c.(9784-9786)gCg>gTg		ankyrin 3, node of Ranvier (ankyrin G)							175	169	171					10																	61830854		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830854G>A	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.9785C>T	10.37:g.61830854G>A	ENSP00000280772:p.Ala3262Val					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.A3262V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9976	-			3262					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9785C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016230	0.35606	.	.	ENSG00000151150	ENST00000280772	T	0.62639	0.01	5.48	5.48	0.80851	.	0.175198	0.27223	N	0.020360	T	0.44350	0.1289	N	0.22421	0.69	0.80722	D	1	P	0.36483	0.555	B	0.22152	0.038	T	0.48234	-0.9053	10	0.42905	T	0.14	.	14.9101	0.70749	0.0:0.1428:0.8571:0.0	.	3262	Q12955	ANK3_HUMAN	V	3262	ENSP00000280772:A3262V	ENSP00000280772:A3262V	A	-	2	0	ANK3	61500860	1.000000	0.71417	0.984000	0.44739	0.948000	0.59901	5.512000	0.67030	2.584000	0.87258	0.561000	0.74099	GCG		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	405	0	0	0	1	0	6	405					A	61830854	G	A	61830854	3	1	423	1	0	0	0	0	1	0	0	0	622	1087	38	1	3689	1	ANK3	10	61830854	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	54212102	61830854	73703893	32	36358											
USH1C	10083	broad.mit.edu	37	chr11	17522639	17522639	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcatacacagcagaaacgAccaccttcccaatgggggag	10	13	1	1	rs570951456		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:17522639A>C	ENST00000318024.4	-	18	1547	c.1439T>G	c.(1438-1440)gTc>gGc	p.V480G	USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000005226.7_Missense_Mutation_p.V780G|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	480	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCAGAAACGACCACCTTCCC	0.592																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2338-2340)gTc>gGc		Usher syndrome 1C (autosomal recessive, severe)							78	63	68					11																	17522639		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17522639A>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1439T>G	11.37:g.17522639A>C	ENSP00000317018:p.Val480Gly					USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000318024.4_Missense_Mutation_p.V480G|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G	p.V780G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			23	2338	-			480					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2339T>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551003	0.86127	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000003	T	0.55862	0.1947	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.60591	-0.7233	10	0.87932	D	0	.	14.3246	0.66509	1.0:0.0:0.0:0.0	.	461;480;780	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	G	480;449;461;780	ENSP00000317018:V480G;ENSP00000432944:V449G;ENSP00000436934:V461G;ENSP00000005226:V780G	ENSP00000005226:V780G	V	-	2	0	USH1C	17479215	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.519000	0.81809	2.213000	0.71641	0.528000	0.53228	GTC		0.592	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		6	35	0	0	0	1	0	6	35					C	17522639	A	C	17522639	3	2	423	1	0	0	0	0	1	0	0	0	17031	275	10	5	380	5	USH1C	11	17522639	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		17522639	117483877	33	36359											
FOLH1	2346	broad.mit.edu	37	chr11	49179537	49179537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactctggggaaggacttTttttagtccaactttcataa	8	7	2	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:49179537T>C	ENST00000256999.2	-	14	1759	c.1499A>G	c.(1498-1500)aAa>aGa	p.K500R	FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R|FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000340334.7_Missense_Mutation_p.K485R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	500	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGAAGGACTTTTTTTAGTCCA	0.353																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1453-1455)aAa>aGa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						64	65	65					11																	49179537		2201	4297	6498	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49179537T>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1499A>G	11.37:g.49179537T>C	ENSP00000256999:p.Lys500Arg					FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K500R	p.K485R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			15	1822	-			500			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1454A>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.266	0.606262	0.14002	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	3.5	3.5	0.40072	.	0.000000	0.56097	D	0.000022	T	0.24928	0.0605	N	0.25094	0.71	0.39015	D	0.959626	B;B;B;B	0.25809	0.086;0.135;0.006;0.003	B;B;B;B	0.26864	0.065;0.074;0.014;0.019	T	0.06899	-1.0801	10	0.09590	T	0.72	.	10.2448	0.43334	0.0:0.0:0.0:1.0	.	485;485;500;500	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	R	500;500;485;192;485;503	ENSP00000256999:K500R;ENSP00000349129:K500R;ENSP00000344131:K485R;ENSP00000344086:K192R;ENSP00000431463:K485R	ENSP00000256999:K500R	K	-	2	0	FOLH1	49136113	1.000000	0.71417	0.817000	0.32601	0.716000	0.41182	4.177000	0.58276	1.592000	0.50018	0.338000	0.21704	AAA		0.353	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		25	167	0	0	0	1	0	25	167					C	49179537	T	C	49179537	3	2	423	1	0	0	0	0	1	0	0	0	5979	1841	64	3	777	3	FOLH1	11	49179537	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	31656898	49179537	85826979	34	36360											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	14	15	1	0	rs147615662	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104	104	104		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	293	0	0	0	1	0	5	293					T	65618619	C	T	65618619	3	4	423	1	0	0	0	0	1	0	0	0	14902	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	16439082	65618619	69387897	35	36361											
CATSPER1	117144	broad.mit.edu	37	chr11	65787824	65787824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcctttgaacagcgcCgtctggaagctatccaccag	10	13	2	1	rs141309763		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65787824C>T	ENST00000312106.5	-	8	2165	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	676					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAACAGCGCCGTCTGGAAGC	0.627																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2026-2028)acG>acA		cation channel, sperm associated 1		C		1,4401	2.1+/-5.4	0,1,2200	117	113	114		2028	4.2	1	11	dbSNP_134	114	0,8592		0,0,4296	no	coding-synonymous	CATSPER1	NM_053054.3		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		676/781	65787824	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65787824C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2028G>A	11.37:g.65787824C>T							p.T676T	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			8	2165	-			676					Q96P76	Silent	SNP	ENST00000312106.5	37	c.2028G>A	CCDS8127.1																																																																																				0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		4	257	0	0	0	1	0	4	257					T	65787824	C	T	65787824	2	4	423	1	0	0	0	0	0	0	0	1	2687	639	23	1		1	CATSPER1	11	65787824	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	169205	65787824	69218692	36	36362											
LRRC32	2615	broad.mit.edu	37	chr11	76371819	76371819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagccggatgaggttgttgGacaagttcaggtagatgagt	17	4	1	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:76371819G>A	ENST00000407242.2	-	3	1060	c.818C>T	c.(817-819)tCc>tTc	p.S273F	LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	273					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTTGTTGGACAAGTTCAG	0.642																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(817-819)tCc>tTc		leucine rich repeat containing 32							59	57	57					11																	76371819		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371819G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.818C>T	11.37:g.76371819G>A	ENSP00000384126:p.Ser273Phe					LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F	p.S273F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1060	-			273					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.818C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233467	0.58886	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	D;D;D	0.82984	-1.67;-1.67;-1.67	4.55	4.55	0.56014	.	0.130339	0.53938	D	0.000060	D	0.89860	0.6837	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91103	0.4916	10	0.72032	D	0.01	.	17.5031	0.87737	0.0:0.0:1.0:0.0	.	273	Q14392	LRC32_HUMAN	F	273	ENSP00000260061:S273F;ENSP00000384126:S273F;ENSP00000385766:S273F	ENSP00000260061:S273F	S	-	2	0	LRRC32	76049467	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.379000	0.79691	2.371000	0.80710	0.555000	0.69702	TCC		0.642	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		19	112	0	0	0	1	0	19	112					A	76371819	G	A	76371819	3	1	423	1	0	0	0	0	1	0	0	0	8987	1174	41	2	1174	2	LRRC32	11	76371819	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	10583995	76371819	58634697	37	36363											
GRIA4	2893	broad.mit.edu	37	chr11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggatctgagactcctccaAaggtatttgtttatttttat	7	7	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:105769151A>G	ENST00000530497.1	+	6	883	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000393127.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					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)|vesicle (GO:0031982)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACTCCTCCAAAGGTATTTGT	0.313																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(883-885)Aag>Gag		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						44	45	45					11																	105769151		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105769151A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.883A>G	11.37:g.105769151A>G	ENSP00000435775:p.Lys295Glu					GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E	p.K295E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	7	1329	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	295					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.883A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940211	0.73557	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.367744	0.26314	N	0.025092	T	0.32675	0.0837	M	0.63843	1.955	0.80722	D	1	B;P;B	0.41393	0.277;0.748;0.17	B;P;B	0.45753	0.297;0.492;0.158	T	0.05954	-1.0854	10	0.72032	D	0.01	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	295;295;295	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	E	295	ENSP00000376833:K295E;ENSP00000282499:K295E;ENSP00000376835:K295E;ENSP00000415551:K295E;ENSP00000435775:K295E;ENSP00000432180:K295E	ENSP00000282499:K295E	K	+	1	0	GRIA4	105274361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.979000	0.76154	2.184000	0.69523	0.533000	0.62120	AAG		0.313	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			23	135	0	0	0	1	0	23	135					G	105769151	A	G	105769151	3	3	423	1	0	0	0	0	1	0	0	0	6770	15	1	3	905	3	GRIA4	11	105769151	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	29397332	105769151	29237365	38	36364											
H1FNT	341567	broad.mit.edu	37	chr12	48723148	48723148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggggccatggctgaggCgcctgggcccagtggcgaat	19	10	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:48723148C>T	ENST00000335017.1	+	1	386	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ATGGCTGAGGCGCCTGGGCCC	0.657																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(73-75)gCg>gTg		H1 histone family, member N, testis-specific							16	19	18					12																	48723148		2202	4298	6500	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723148C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.74C>T	12.37:g.48723148C>T	ENSP00000334805:p.Ala25Val						p.A25V	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	386	+			25					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.74C>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613701	0.46631	.	.	ENSG00000187166	ENST00000335017	T	0.20738	2.05	5.03	-0.546	0.11840	.	.	.	.	.	T	0.07908	0.0198	N	0.17474	0.49	0.09310	N	1	B	0.32350	0.366	B	0.20184	0.028	T	0.28618	-1.0038	9	0.23302	T	0.38	-0.0405	0.8406	0.01149	0.2972:0.3529:0.1583:0.1917	.	25	Q75WM6	H1FNT_HUMAN	V	25	ENSP00000334805:A25V	ENSP00000334805:A25V	A	+	2	0	H1FNT	47009415	0.000000	0.05858	0.001000	0.08648	0.283000	0.27025	-1.129000	0.03244	-0.453000	0.07076	0.650000	0.86243	GCG		0.657	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		4	37	0	0	0	1	0	4	37					T	48723148	C	T	48723148	3	4	423	1	0	0	0	0	1	0	0	0	6921	768	27	1	76	1	H1FNT	12	48723148	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		48723148	85128747	39	36365											
GCN1L1	10985	broad.mit.edu	37	chr12	120574422	120574422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacggagggcctcagggCgtcagccgaggtcaggcgga	18	12	3	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:120574422C>T	ENST00000300648.6	-	51	6904	c.6892G>A	c.(6892-6894)Gcc>Acc	p.A2298T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2298				A -> V (in Ref. 7; AAC51648). {ECO:0000305}.	regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTCAGGGCGTCAGCCGAG	0.622																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6892-6894)Gcc>Acc		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							60	65	63					12																	120574422		2052	4189	6241	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120574422C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6892G>A	12.37:g.120574422C>T	ENSP00000300648:p.Ala2298Thr						p.A2298T	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			51	6904	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2298	A -> V (in Ref. 7; AAC51648).				A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6892G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604068	0.96626	.	.	ENSG00000089154	ENST00000300648	T	0.65916	-0.18	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.058671	0.64402	D	0.000002	T	0.77903	0.4200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.78168	-0.2309	10	0.59425	D	0.04	.	19.8555	0.96756	0.0:1.0:0.0:0.0	.	2298	Q92616	GCN1L_HUMAN	T	2298	ENSP00000300648:A2298T	ENSP00000300648:A2298T	A	-	1	0	GCN1L1	119058805	1.000000	0.71417	0.964000	0.40570	0.936000	0.57629	7.298000	0.78815	2.697000	0.92050	0.591000	0.81541	GCC		0.622	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			32	70	0	0	0	1	0	32	70					T	120574422	C	T	120574422	3	4	423	1	0	0	0	0	1	0	0	0	6299	768	27	1	1155	1	GCN1L1	12	120574422	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	71851274	120574422	13277473	40	36366											
ENOX1	55068	broad.mit.edu	37	chr13	43918782	43918782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggacgtggctgttggCcgactgcaccatggaataga	15	11	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:43918782C>T	ENST00000261488.6	-	9	1505	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T|ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	310					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGCTGTTGGCCGACTGCACC	0.488																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(928-930)Gcc>Acc		ecto-NOX disulfide-thiol exchanger 1							113	110	111					13																	43918782		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43918782C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.928G>A	13.37:g.43918782C>T	ENSP00000261488:p.Ala310Thr					ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T|ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T	p.A310T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	9	1505	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	310					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.928G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067796	0.55539	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.41400	1.0;1.0	5.92	5.92	0.95590	.	0.099088	0.64402	D	0.000002	T	0.36413	0.0966	L	0.27053	0.805	0.51012	D	0.999909	P;P	0.48834	0.746;0.916	P;B	0.45610	0.487;0.409	T	0.05666	-1.0871	10	0.07990	T	0.79	-2.9561	20.3214	0.98679	0.0:1.0:0.0:0.0	.	123;310	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	T	310;310;123	ENSP00000261488:A310T;ENSP00000415054:A310T	ENSP00000261488:A310T	A	-	1	0	ENOX1	42816782	0.989000	0.36119	0.993000	0.49108	0.990000	0.78478	2.896000	0.48656	2.804000	0.96469	0.655000	0.94253	GCC		0.488	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		5	258	0	0	0	1	0	5	258					T	43918782	C	T	43918782	3	4	423	1	0	0	0	0	1	0	0	0	5126	739	26	2	1039	2	ENOX1	13	43918782	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		43918782	71251096	41	36367											
C13orf18	80183	broad.mit.edu	37	chr13	46919668	46919668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttgatcctgaccaggtCctcaagggagaacaggtgga	12	9	2	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:46919668C>T	ENST00000429979.1	-	13	2303	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D432N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D567N|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D410N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D410N|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D500N	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	567										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CTGACCAGGTCCTCAAGGGAG	0.532																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1699-1701)Gac>Aac		KIAA0226-like							52	53	53					13																	46919668		2014	4167	6181	SO:0001583	missense	80183							g.chr13:46919668C>T	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.1699G>A	13.37:g.46919668C>T	ENSP00000396935:p.Asp567Asn					KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D410N|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D500N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D567N|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D432N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D410N	p.D567N	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			13	2303	-			567					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1699G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	34	5.348567	0.95807	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.68903	-0.36;-0.33;-0.36;-0.26	5.35	5.35	0.76521	.	.	.	.	.	D	0.85965	0.5820	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;0.998;0.986	D;D;D;D;D	0.91635	0.987;0.987;0.999;0.986;0.988	D	0.89090	0.3482	9	0.87932	D	0	-15.9348	18.0651	0.89388	0.0:1.0:0.0:0.0	.	410;410;567;432;500	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	N	567;500;567;410;410;432	ENSP00000396935:D567N;ENSP00000368061:D500N;ENSP00000374558:D567N;ENSP00000437501:D432N	ENSP00000315633:D410N	D	-	1	0	KIAA0226L	45817669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.019000	0.76412	2.491000	0.84063	0.655000	0.94253	GAC		0.532	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		5	25	0	0	0	1	0	5	25					T	46919668	C	T	46919668	3	4	423	1	0	0	0	0	1	0	0	0	1720	855	30	2	301	2	C13orf18	13	46919668	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	3000886	46919668	68250210	42	36368											
LMO7	4008	broad.mit.edu	37	chr13	76429413	76429413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtcagtcagtgggaagcGcatatgctcctactgcaata	11	9	2	0	rs144929980	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:76429413G>A	ENST00000321797.8	+	27	4701	c.3980G>A	c.(3979-3981)cGc>cAc	p.R1327H	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000341547.4_Missense_Mutation_p.R1278H|LMO7_ENST00000465261.2_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1612					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)		AGTGGGAAGCGCATATGCTCC	0.453													G|||	14	0.00279553	0.0	0.0	5008	,	,		17479	0.0139		0.0	False		,,,				2504	0.0					ENST00000341547.4																			0				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						c.(3832-3834)cGc>cAc		LIM domain 7							143	122	129					13																	76429413		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76429413G>A	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	ENST00000321797.8:c.3980G>A	13.37:g.76429413G>A	ENSP00000317802:p.Arg1327His					LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000321797.8_Missense_Mutation_p.R1327H|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000377534.3_Intron	p.R1278H	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	28	5093	+		Breast(118;0.0992)	1612					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3833G>A		8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	23.5	4.417776	0.83449	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	T;T;T	0.44881	1.49;0.92;0.91	5.87	5.87	0.94306	.	0.110683	0.56097	D	0.000027	T	0.53238	0.1784	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.69824	0.869;0.966	T	0.61456	-0.7059	10	0.66056	D	0.02	-9.9689	10.2544	0.43388	0.1503:0.0:0.8497:0.0	.	1204;1278	E9PMS6;Q8WWI1-3	.;.	H	1278;1327;1204	ENSP00000342112:R1278H;ENSP00000317802:R1327H;ENSP00000431129:R1204H	ENSP00000317802:R1327H	R	+	2	0	LMO7	75327414	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	5.080000	0.64437	2.780000	0.95670	0.655000	0.94253	CGC		0.453	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	97	0	0	0	1	0	5	97					A	76429413	G	A	76429413	3	1	423	1	0	0	0	0	1	0	0	0	8855	1087	38	1	4953	1	LMO7	13	76429413	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	29509745	76429413	38740465	43	36369											
AHNAK2	113146	broad.mit.edu	37	chr14	105412807	105412807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagacctcaatggacttgCctggggcagacaccccgaac	11	15	1	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr14:105412807C>T	ENST00000333244.5	-	7	9100	c.8981G>A	c.(8980-8982)gGc>gAc	p.G2994D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2994						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)			AATGGACTTGCCTGGGGCAGA	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8980-8982)gGc>gAc		AHNAK nucleoprotein 2							266	276	272					14																	105412807		1986	4147	6133	SO:0001583	missense	113146					nucleus		g.chr14:105412807C>T	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.8981G>A	14.37:g.105412807C>T	ENSP00000353114:p.Gly2994Asp					AHNAK2_ENST00000557457.1_Intron	p.G2994D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9100	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2994					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8981G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	5.231	0.228102	0.09916	.	.	ENSG00000185567	ENST00000333244	T	0.02552	4.25	4.35	1.14	0.20703	.	.	.	.	.	T	0.04363	0.0120	M	0.89904	3.07	0.09310	N	1	B	0.31459	0.324	B	0.24394	0.053	T	0.44467	-0.9326	9	0.14252	T	0.57	.	0.9635	0.01400	0.1887:0.4167:0.1837:0.2109	.	2994	Q8IVF2	AHNK2_HUMAN	D	2994	ENSP00000353114:G2994D	ENSP00000353114:G2994D	G	-	2	0	AHNAK2	104483852	.	.	0.068000	0.19968	0.019000	0.09904	.	.	0.281000	0.22233	-0.350000	0.07774	GGC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	914	0	0	0	1	0	7	914					T	105412807	C	T	105412807	3	4	423	1	0	0	0	0	1	0	0	0	415	739	26	2	8410	2	AHNAK2	14	105412807	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		105412807	1936733	44	36370											
SLC27A2	11001	broad.mit.edu	37	chr15	50526124	50526124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaccatgaatttgatGgaaagaaactctttcagcac	7	7	2	4	rs541651560	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr15:50526124G>A	ENST00000267842.5	+	9	1847	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R|SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	539					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)		TGAATTTGATGGAAAGAAACT	0.378																																						ENST00000267842.5																			0				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						c.(1615-1617)Gga>Aga		solute carrier family 27 (fatty acid transporter), member 2							115	111	112					15																	50526124		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50526124G>A	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.1615G>A	15.37:g.50526124G>A	ENSP00000267842:p.Gly539Arg					SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R	p.G539R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	9	1847	+		all_lung(180;0.00177)	539					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1615G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784697	0.49997	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.56444	0.46;0.46;0.46	5.93	5.93	0.95920	.	0.158802	0.53938	D	0.000045	T	0.71117	0.3302	M	0.77313	2.365	0.53005	D	0.999961	P;D	0.62365	0.935;0.991	P;D	0.64144	0.691;0.922	T	0.66256	-0.5969	10	0.25106	T	0.35	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	486;539	Q6PF09;O14975	.;S27A2_HUMAN	R	486;539;304	ENSP00000370289:G486R;ENSP00000267842:G539R;ENSP00000444549:G304R	ENSP00000267842:G539R	G	+	1	0	SLC27A2	48313416	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	5.092000	0.64511	2.826000	0.97356	0.655000	0.94253	GGA		0.378	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		23	123	0	0	0	1	0	23	123					A	50526124	G	A	50526124	3	1	423	1	0	0	0	0	1	0	0	0	14526	1349	47	2	1649	2	SLC27A2	15	50526124	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		50526124	52005268	45	36371											
GRIN2A	2903	broad.mit.edu	37	chr16	9858072	9858072	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgtctctaggggagcttGatttggttttcaggtaggtg	14	5	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:9858072G>A	ENST00000396573.2	-	14	3638	c.3329C>T	c.(3328-3330)tCa>tTa	p.S1110L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1110					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)	AGGGGAGCTTGATTTGGTTTT	0.478																																						ENST00000396573.2																			0				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						c.(3328-3330)tCa>tTa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						146	141	143					16																	9858072		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858072G>A		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.3329C>T	16.37:g.9858072G>A	ENSP00000379818:p.Ser1110Leu					GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L	p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3638	-			1110					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3329C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400281	0.25291	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11169	2.81;2.8;2.8;2.81;2.81	5.33	3.29	0.37713	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.328520	0.36268	N	0.002693	T	0.05181	0.0138	N	0.08118	0	0.21967	N	0.999447	B;B;B	0.20261	0.014;0.043;0.001	B;B;B	0.24006	0.03;0.05;0.005	T	0.43081	-0.9413	9	.	.	.	.	8.3276	0.32167	0.0:0.2575:0.4724:0.2701	.	953;1110;1110	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	1110;1110;953;1110;1110	ENSP00000379818:S1110L;ENSP00000385872:S1110L;ENSP00000441572:S953L;ENSP00000332549:S1110L;ENSP00000379820:S1110L	.	S	-	2	0	GRIN2A	9765573	0.864000	0.29904	0.856000	0.33681	0.970000	0.65996	1.113000	0.31184	0.583000	0.29574	0.585000	0.79938	TCA		0.478	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			34	212	0	0	0	1	0	34	212					A	9858072	G	A	9858072	3	1	423	1	0	0	0	0	1	0	0	0	6779	1294	45	2	1069	2	GRIN2A	16	9858072	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		9858072	80496681	46	36372											
CCDC135	84229	broad.mit.edu	37	chr16	57761287	57761287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatctatgacaccaagcGgaatgagaagagcaaggaat	10	9	1	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:57761287G>A	ENST00000360716.3	+	16	2383	c.2162G>A	c.(2161-2163)cGg>cAg	p.R721Q	CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q|CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q			Q8IY82	CC135_HUMAN		721					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACACCAAGCGGAATGAGAAG	0.567																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2161-2163)cGg>cAg		coiled-coil domain containing 135							140	128	132					16																	57761287		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57761287G>A																												ENST00000360716.3:c.2162G>A	16.37:g.57761287G>A	ENSP00000353942:p.Arg721Gln					CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q|CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q	p.R721Q			Q8IY82	CC135_HUMAN			16	2383	+			721					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2162G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	19.58	3.854997	0.71719	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.13196	2.8;2.61;2.8	4.47	4.47	0.54385	.	0.189304	0.45867	D	0.000322	T	0.38401	0.1039	M	0.75085	2.285	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.31752	-0.9932	10	0.72032	D	0.01	-28.3694	16.0989	0.81152	0.0:0.0:1.0:0.0	.	656;721	Q8IY82-2;Q8IY82	.;CC135_HUMAN	Q	721;656;721	ENSP00000377869:R721Q;ENSP00000338938:R656Q;ENSP00000353942:R721Q	ENSP00000338938:R656Q	R	+	2	0	CCDC135	56318788	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	6.510000	0.73729	2.225000	0.72522	0.298000	0.19748	CGG		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			4	184	0	0	0	1	0	4	184					A	57761287	G	A	57761287	3	1	423	1	0	0	0	0	1	0	0	0	2769	1116	39	1	2216	1	CCDC135	16	57761287	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	47903215	57761287	32593466	47	36373											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	7	0	0	0	1	0	47	7					A	7577121	G	A	7577121	3	1	423	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		7577121	73618089	48	36374											
ANKRD29	147463	broad.mit.edu	37	chr18	21199494	21199494	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcgactcgggcactcaCgttccgcgcagcgtcgcggt	14	17	1	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr18:21199494C>T	ENST00000592179.1	-	7	782		c.e7+1		ANKRD29_ENST00000284207.7_Splice_Site|ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000322980.9_Splice_Site	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29											breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGGCACTCACGTTCCGCGCA	0.687																																						ENST00000592179.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13						c.e7+1		ankyrin repeat domain 29							10	10	10					18																	21199494		2140	4182	6322	SO:0001630	splice_region_variant	147463							g.chr18:21199494C>T	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.627+1G>A	18.37:g.21199494C>T						ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000322980.9_Splice_Site|ANKRD29_ENST00000284207.7_Splice_Site		NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN			7	782	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)							B2R972|Q6ZWE8|Q96LU9	Splice_Site	SNP	ENST00000592179.1	37		CCDS11879.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065259	0.93898	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2822	0.87131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD29	19453492	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	6.088000	0.71371	2.442000	0.82660	0.561000	0.74099	.		0.687	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505	Intron	6	22	0	0	0	1	0	6	22					T	21199494	C	T	21199494	5	4	423	1	0	0	0	0	0	0	1	0	657	550	19	1	293	1	ANKRD29	18	21199494	Splice_Site	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		21199494	56877754	49	36375											
BSG	682	broad.mit.edu	37	chr19	580702	580702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcaacgagggggagacgGccatgctggtctgcaagtca	14	10	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:580702G>A	ENST00000333511.3	+	5	782	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000346916.4_Missense_Mutation_p.A58T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	238	Ig-like V-type.				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)		GGGGGAGACGGCCATGCTGGT	0.602																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(712-714)Gcc>Acc		basigin							74	70	71					19																	580702		2200	4299	6499	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:580702G>A	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		ENST00000333511.3:c.712G>A	19.37:g.580702G>A	ENSP00000333769:p.Ala238Thr					BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T|BSG_ENST00000346916.4_Missense_Mutation_p.A58T	p.A238T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		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)	5	782	+		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)	238			Ig-like V-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.712G>A	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640378	0.67244	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.38722	1.12;1.12;1.12	4.09	0.64	0.17752	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.608014	0.14847	N	0.294915	T	0.50343	0.1610	L	0.61387	1.9	0.09310	N	1	D;D;D;D;D	0.56035	0.967;0.974;0.974;0.974;0.974	P;P;P;P;P	0.57244	0.72;0.604;0.816;0.604;0.604	T	0.37244	-0.9714	10	0.38643	T	0.18	-26.9187	8.8181	0.35009	0.2741:0.0:0.7259:0.0	.	122;238;122;238;58	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	T	58;29;238;122	ENSP00000344707:A58T;ENSP00000333769:A238T;ENSP00000343809:A122T	ENSP00000333769:A238T	A	+	1	0	BSG	531702	0.018000	0.18449	0.000000	0.03702	0.020000	0.10135	1.875000	0.39578	0.296000	0.22592	0.561000	0.74099	GCC		0.602	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		14	107	0	0	0	1	0	14	107					A	580702	G	A	580702	3	1	423	1	0	0	0	0	1	0	0	0	1529	1203	42	2	766	2	BSG	19	580702	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		580702	58548281	50	36376											
COMP	1311	broad.mit.edu	37	chr19	18896653	18896653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggcacacgtcgcccaCgccgtcccctgagaggtggg	14	16	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:18896653C>T	ENST00000222271.2	-	14	1542	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	COMP_ENST00000425807.1_Missense_Mutation_p.V447M|COMP_ENST00000542601.2_Missense_Mutation_p.V467M	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	500					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						ACGTCGCCCACGCCGTCCCCT	0.672																																						ENST00000542601.2																			0				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						c.(1399-1401)Gtg>Atg		cartilage oligomeric matrix protein							64	56	59					19																	18896653		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896653C>T	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.1498G>A	19.37:g.18896653C>T	ENSP00000222271:p.Val500Met					COMP_ENST00000222271.2_Missense_Mutation_p.V500M|COMP_ENST00000425807.1_Missense_Mutation_p.V447M	p.V467M			P49747	COMP_HUMAN			13	1788	-			500					B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1399G>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259348	0.80246	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98822	-5.16;-5.16;-5.16	4.29	4.29	0.51040	.	0.086297	0.47093	U	0.000244	D	0.99199	0.9722	M	0.90759	3.145	0.45139	D	0.998158	D;D	0.89917	0.998;1.0	D;D	0.76575	0.922;0.988	D	0.99123	1.0850	10	0.59425	D	0.04	-19.2329	15.2824	0.73797	0.0:1.0:0.0:0.0	.	447;500	B4DKJ3;P49747	.;COMP_HUMAN	M	467;500;447;487	ENSP00000439156:V467M;ENSP00000222271:V500M;ENSP00000403792:V447M	ENSP00000222271:V500M	V	-	1	0	COMP	18757653	0.989000	0.36119	0.994000	0.49952	0.984000	0.73092	2.728000	0.47319	1.929000	0.55896	0.491000	0.48974	GTG		0.672	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		35	94	0	0	0	1	0	35	94					T	18896653	C	T	18896653	3	4	423	1	0	0	0	0	1	0	0	0	3724	536	19	1	799	1	COMP	19	18896653	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	18315951	18896653	40232330	51	36377											
LGALS4	3960	broad.mit.edu	37	chr19	39299489	39299489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacttcccgccctgcaaCgtgttgaagaccaccttgtc	7	18	0	2	rs201783709	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:39299489C>T	ENST00000307751.4	-	3	711	c.234G>A	c.(232-234)acG>acA	p.T78T	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCTGCAACGTGTTGAAGA	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		16861	0.002		0.0	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(232-234)acG>acA		lectin, galactoside-binding, soluble, 4							154	120	132					19																	39299489		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299489C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.234G>A	19.37:g.39299489C>T						LGALS4_ENST00000597803.1_Intron	p.T78T	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	711	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		78			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.234G>A	CCDS12521.1																																																																																				0.582	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		6	143	0	0	0	1	0	6	143					T	39299489	C	T	39299489	2	4	423	1	0	0	0	0	0	0	0	1	8745	523	19	1		1	LGALS4	19	39299489	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	20402836	39299489	19829494	52	36378											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	16	9	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				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)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				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						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185	196	192					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		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.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		5	551	0	0	0	1	0	5	551					A	43411250	G	A	43411250	3	1	423	1	0	0	0	0	1	0	0	0	12659	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	4111761	43411250	15717733	53	36379											
NRSN2	80023	broad.mit.edu	37	chr20	330364	330364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagtggtatggggtccGctcctacctgcacctcttct	11	13	2	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:330364G>A	ENST00000382291.3	+	3	317	c.77G>A	c.(76-78)cGc>cAc	p.R26H	NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H|RP5-1103G7.4_ENST00000442637.1_RNA|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000608736.1_Missense_Mutation_p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	26						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TATGGGGTCCGCTCCTACCTG	0.662																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(76-78)cGc>cAc		neurensin 2							59	55	56					20																	330364		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:330364G>A	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.77G>A	20.37:g.330364G>A	ENSP00000371728:p.Arg26His					NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H	p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			3	317	+		all_cancers(10;0.0834)	26					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.77G>A	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697864	0.48307	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.25250	1.81;1.81	4.31	3.35	0.38373	.	0.231554	0.37483	N	0.002078	T	0.39784	0.1091	M	0.74647	2.275	0.32508	N	0.53788	D	0.69078	0.997	P	0.56343	0.796	T	0.54781	-0.8242	10	0.72032	D	0.01	-4.7745	7.1266	0.25475	0.1258:0.0:0.8742:0.0	.	26	Q9GZP1	NRSN2_HUMAN	H	26	ENSP00000371728:R26H;ENSP00000371722:R26H	ENSP00000371722:R26H	R	+	2	0	NRSN2	278364	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	2.425000	0.44723	0.984000	0.38629	0.643000	0.83706	CGC		0.662	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		20	120	0	0	0	1	0	20	120					A	330364	G	A	330364	3	1	423	1	0	0	0	0	1	0	0	0	10663	1087	38	1	79	1	NRSN2	20	330364	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		330364	62695156	54	36380											
ANGPT4	51378	broad.mit.edu	37	chr20	865871	865871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagggcggcgctctggcGgctcagcgtgttcagcagct	18	11	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:865871G>A	ENST00000381922.3	-	4	787	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	229					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGCTCTGGCGGCTCAGCGTG	0.672																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(685-687)Cgc>Tgc		angiopoietin 4							21	18	19					20																	865871		2200	4294	6494	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:865871G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.685C>T	20.37:g.865871G>A	ENSP00000371347:p.Arg229Cys					ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			4	787	-			229					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.685C>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.459546	0.43736	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.14391	2.51;2.51	4.69	3.71	0.42584	.	0.591514	0.16713	N	0.202593	T	0.27134	0.0665	L	0.52011	1.625	0.33744	D	0.619764	D;D	0.89917	1.0;1.0	P;P	0.62184	0.899;0.854	T	0.37174	-0.9717	10	0.72032	D	0.01	.	11.1427	0.48413	0.0:0.0:0.8151:0.1848	.	229;229	B4E3J9;Q9Y264	.;ANGP4_HUMAN	C	229	ENSP00000371347:R229C;ENSP00000439605:R229C	ENSP00000371347:R229C	R	-	1	0	ANGPT4	813871	0.998000	0.40836	1.000000	0.80357	0.229000	0.25112	1.453000	0.35167	1.168000	0.42723	0.450000	0.29827	CGC		0.672	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		7	14	0	0	0	1	0	7	14					A	865871	G	A	865871	3	1	423	1	0	0	0	0	1	0	0	0	612	1116	39	1	850	1	ANGPT4	20	865871	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	535507	865871	62159649	55	36381											
NCOA3	8202	broad.mit.edu	37	chr20	46281698	46281698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcccagcagcagtttgCccaccaggggaatcctgcag	10	14	0	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:46281698C>T	ENST00000371998.3	+	22	4336	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V	NCOA3_ENST00000372004.3_Missense_Mutation_p.A1378V|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1382					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGCAGTTTGCCCACCAGGGG	0.478																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(4132-4134)gCc>gTc		nuclear receptor coactivator 3							136	129	131					20																	46281698		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46281698C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4145C>T	20.37:g.46281698C>T	ENSP00000361066:p.Ala1382Val					NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1382V	p.A1378V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			22	4349	+			1382					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.4133C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115005	0.56505	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02323	4.38;4.56;4.56;4.34	5.87	4.87	0.63330	.	0.325655	0.29438	N	0.012150	T	0.03915	0.0110	L	0.36672	1.1	0.31805	N	0.627943	P;B;B;P;P	0.39940	0.57;0.354;0.354;0.696;0.57	B;B;B;B;B	0.40602	0.334;0.179;0.179;0.333;0.334	T	0.11470	-1.0586	10	0.46703	T	0.11	-14.3917	13.8499	0.63489	0.0:0.6804:0.3196:0.0	.	1382;1385;1377;1378;1382	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	V	1378;1308;1378;1382;1373	ENSP00000342123:A1308V;ENSP00000361073:A1378V;ENSP00000361066:A1382V;ENSP00000361065:A1373V	ENSP00000345671:A1378V	A	+	2	0	NCOA3	45715105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.368000	0.52357	2.785000	0.95823	0.655000	0.94253	GCC		0.478	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	240	0	0	0	1	0	4	240					T	46281698	C	T	46281698	3	4	423	1	0	0	0	0	1	0	0	0	10230	739	26	2	4253	2	NCOA3	20	46281698	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	45415827	46281698	16743822	56	36382											
ZNF512B	57473	broad.mit.edu	37	chr20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacgggtttggtgaccgGcacagacttggtgactgtga	16	7	0	4			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(793-795)Ccg>Tcg		zinc finger protein 512B							380	396	391					20																	62597735		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597735G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.793C>T	20.37:g.62597735G>A	ENSP00000393795:p.Pro265Ser					ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S	p.P265S			Q96KM6	Z512B_HUMAN			5	853	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		265					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.793C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123279	0.06795	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.55	0.0704	0.14378	.	0.871399	0.09535	N	0.788968	T	0.14056	0.0340	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31475	-0.9942	10	0.62326	D	0.03	-4.9126	1.5918	0.02656	0.1931:0.1639:0.4745:0.1684	.	265	Q96KM6	Z512B_HUMAN	S	265	ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S	ENSP00000217130:P265S	P	-	1	0	ZNF512B	62068179	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.302000	0.19192	0.133000	0.18654	0.650000	0.86243	CCG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	894	0	0	0	1	0	7	894					A	62597735	G	A	62597735	3	1	423	1	0	0	0	0	1	0	0	0	17954	1203	42	2	1937	2	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	16316037	62597735	427785	57	36383											
SMC1B	27127	broad.mit.edu	37	chr22	45757767	45757767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcaatttgagtttgaActttctcggcactggagttc	8	10	3	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr22:45757767A>G	ENST00000357450.4	-	17	2659	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	887					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)		TTGAGTTTGAACTTTCTCGGC	0.418																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2659-2661)gTt>gCt		structural maintenance of chromosomes 1B							198	182	187					22																	45757767		1906	4134	6040	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45757767A>G	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.2660T>C	22.37:g.45757767A>G	ENSP00000350036:p.Val887Ala					SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	17	2659	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	887					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2660T>C	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	7.568	0.666173	0.14710	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.78707	-1.2;-1.04	5.31	0.741	0.18336	.	1.154360	0.06517	N	0.739029	T	0.43678	0.1258	N	0.00554	-1.385	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33394	-0.9870	10	0.10377	T	0.69	.	7.718	0.28715	0.3917:0.1322:0.4761:0.0	.	887;887	Q8NDV3-2;Q8NDV3-3	.;.	A	887	ENSP00000350036:V887A;ENSP00000385902:V887A	ENSP00000350036:V887A	V	-	2	0	SMC1B	44136431	0.328000	0.24687	0.403000	0.26384	0.921000	0.55340	0.708000	0.25719	0.040000	0.15660	0.533000	0.62120	GTT		0.418	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		19	332	0	0	0	1	0	19	332					G	45757767	A	G	45757767	3	3	423	1	0	0	0	0	1	0	0	0	14782	43	2	3	1083	3	SMC1B	22	45757767	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		45757767	5546799	58	36384											
ATRX	546	broad.mit.edu	37	chrX	76918997	76918998	+	Frame_Shift_Ins	INS	-	-	A													tgtctgtatcttggcttcttINSagattcttcagaatctgaat							TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chrX:76918997_76918998insA	ENST00000373344.5	-	12	4207_4208	c.3993_3994insT	c.(3991-3996)tctaagfs	p.K1332fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1294fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1332					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						CTTGGCTTCTTAGATTCTTCAG	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3991-3996)tcagaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918997_76918998insA	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.3994dupT	X.37:g.76918998_76918998dupA	ENSP00000362441:p.Lys1332fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.E1294fs	p.E1332fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4207_4208	-			1332					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3993_3994insT	CCDS14434.1																																																																																				0.351	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		56	13						56	13	---	---	---	---	A	76918998	-	A	76918997	7	5	423	1	0	1	1	0	0	0	0	0	1208	1763	61	0	3580	0	ATRX	23	76918997	Frame_Shift_Ins	INS	-	TCGA-S9-A6U6-01A-12D-A33T-08		76918997	78351563	59	36385											
HSPG2	3339	broad.mit.edu	37	chr1	22176570	22176570	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcccccgcgcttgtgCcacgtgacctgggcatgggc	15	15	0	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:22176570C>T	ENST00000374695.3	-	57	7489	c.7410G>A	c.(7408-7410)tgG>tgA	p.W2470*	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2470	Ig-like C2-type 10.				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)	p.W2470*(1)		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)	CGCGCTTGTGCCACGTGACCT	0.652																																						ENST00000374695.3																			1	Substitution - Nonsense(1)	p.W2470*(1)	kidney(1)	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						c.(7408-7410)tgG>tgA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						87	99	95					1																	22176570		2203	4300	6503	SO:0001587	stop_gained	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176570C>T	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.7410G>A	1.37:g.22176570C>T	ENSP00000363827:p.Trp2470*					HSPG2_ENST00000430507.1_3'UTR	p.W2470*	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	57	7489	-		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)	2470			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Nonsense_Mutation	SNP	ENST00000374695.3	37	c.7410G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	48	14.639044	0.99804	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.29	5.29	0.74685	.	0.000000	0.36268	N	0.002698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4518	0.83993	0.0:1.0:0.0:0.0	.	.	.	.	X	2470	.	ENSP00000363827:W2470X	W	-	3	0	HSPG2	22049157	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	3.505000	0.53356	2.478000	0.83669	0.561000	0.74099	TGG		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		5	366	0	0	0	1	0	5	366					T	22176570	C	T	22176570	4	4	424	1	0	0	0	0	0	1	0	0	7430	740	26	2	5929	2	HSPG2	1	22176570	Nonsense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		22176570	227074051	1	36386											
E2F2	1870	broad.mit.edu	37	chr1	23848548	23848548	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccgggggatttggggGctgaagaagaaagggaccca	16	9	1	3			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:23848548G>A	ENST00000361729.2	-	3	785	c.359C>T	c.(358-360)aCc>aTc	p.T120I	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	120					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T120I(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGATTTGGGGGCTGAAGAAGA	0.587																																						ENST00000361729.2																			1	Substitution - Missense(1)	p.T120I(1)	skin(1)	endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13						c.e3-1		E2F transcription factor 2							29	31	30					1																	23848548		2203	4300	6503	SO:0001630	splice_region_variant	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23848548G>A	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.359-1C>T	1.37:g.23848548G>A							p.T120_splice	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	3	785	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	120					B2R9W1|Q7Z6H1	Splice_Site	SNP	ENST00000361729.2	37	c.358_splice	CCDS236.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857983	0.91433	.	.	ENSG00000007968	ENST00000361729	T	0.09817	2.94	5.62	5.62	0.85841	.	1.341300	0.05070	N	0.481551	T	0.40862	0.1134	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00662	-1.1621	10	0.62326	D	0.03	.	18.217	0.89889	0.0:0.0:1.0:0.0	.	120	Q14209	E2F2_HUMAN	I	120	ENSP00000355249:T120I	ENSP00000355249:T120I	T	-	2	0	E2F2	23721135	1.000000	0.71417	0.792000	0.32020	0.988000	0.76386	9.807000	0.99171	2.656000	0.90262	0.591000	0.81541	ACC		0.587	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091	Missense_Mutation	27	41	0	0	0	1	0	27	41					A	23848548	G	A	23848548	5	1	424	1	0	0	0	0	0	0	1	0	4867	1217	42	2	974	2	E2F2	1	23848548	Splice_Site	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	1671978	23848548	225402073	2	36387											
CR1	1378	broad.mit.edu	37	chr1	207758074	207758074	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagatattccctatggaaaaGaaatatcttacacatgtgac	7	7	1	3			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:207758074G>T	ENST00000367049.4	+	33	5383	c.5383G>T	c.(5383-5385)Gaa>Taa	p.E1795*	CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1345	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATGGAAAAGAAATATCTTA	0.473																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(5383-5385)Gaa>Taa		complement component (3b/4b) receptor 1 (Knops blood group)							113	110	111					1																	207758074		1867	4090	5957	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207758074G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5383G>T	1.37:g.207758074G>T	ENSP00000356016:p.Glu1795*					CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*	p.E1795*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			33	5383	+			1345			Sushi 28.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.5383G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	42	9.704508	0.99242	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	.	.	.	3.03	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.3244	0.15898	0.1637:0.0:0.8363:0.0	.	.	.	.	X	1345;1345;1345;1345;895;1795	.	ENSP00000356016:E1795X	E	+	1	0	CR1	205824697	0.000000	0.05858	0.682000	0.30024	0.964000	0.63967	0.292000	0.19011	0.798000	0.33994	0.655000	0.94253	GAA		0.473	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		83	174	1	0	5.72486e-32	1	6.12427e-32	83	174					T	207758074	G	T	207758074	4	4	424	1	0	0	0	0	0	1	0	0	3840	943	33	4	5513	4	CR1	1	207758074	Nonsense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	183909526	207758074	41492547	3	36388											
RGPD5	727851	broad.mit.edu	37	chr2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2884-2886)ttfs		RANBP2-like and GRIP domain containing 8							80	72	74					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851							g.chr2:113147636delA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	p.F962fs	NM_001164463.1	NP_001157935.1					20	3077	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2886delT	CCDS46394.1																																																																																				0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		7	457						7	457	---	---	---	---	-	113147636	A	-	113147636	7	5	424	1	0	1	0	1	0	0	0	0	13289	127	5	0	13441	0	RGPD5	2	113147636	Frame_Shift_Del	DEL	A	TCGA-S9-A6U8-01A-21D-A33T-08		113147636	130051737	4	36389											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			62	86	0	0	0	1	0	62	86					A	209113113	G	A	209113113	3	1	424	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	95965477	209113113	34086260	5	36390											
RHO	6010	broad.mit.edu	37	chr3	129249862	129249862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggcgctggcctgcgccGcacccccactcgccggctgg	13	19	1	0	rs377687329		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr3:129249862G>A	ENST00000296271.3	+	2	599	c.505G>A	c.(505-507)Gca>Aca	p.A169T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	169					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GGCCTGCGCCGCACCCCCACT	0.617																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(505-507)Gca>Aca		rhodopsin	Halothane(DB01159)	G	THR/ALA	0,4406		0,0,2203	82	70	74		505	2.2	0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHO	NM_000539.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	169/349	129249862	1,13005	2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129249862G>A	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.505G>A	3.37:g.129249862G>A	ENSP00000296271:p.Ala169Thr						p.A169T	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	2	599	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	169					Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.505G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671130	0.29693	0.0	1.16E-4	ENSG00000163914	ENST00000296271	T	0.72394	-0.65	5.26	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.413866	0.27936	N	0.017243	T	0.53286	0.1787	L	0.37897	1.145	0.09310	N	1	B	0.31435	0.323	B	0.21708	0.036	T	0.53683	-0.8404	10	0.72032	D	0.01	.	7.2514	0.26152	0.0723:0.1243:0.6752:0.1282	.	169	P08100	OPSD_HUMAN	T	169	ENSP00000296271:A169T	ENSP00000296271:A169T	A	+	1	0	RHO	130732552	0.650000	0.27331	0.007000	0.13788	0.042000	0.13812	3.859000	0.55987	2.448000	0.82819	0.462000	0.41574	GCA		0.617	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		4	134	0	0	0	1	0	4	134					A	129249862	G	A	129249862	3	1	424	1	0	0	0	0	1	0	0	0	13330	1087	38	1	511	1	RHO	3	129249862	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		129249862	68772568	6	36391											
C4orf21	55345	broad.mit.edu	37	chr4	113540265	113540265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgattgatgctggtagtaTaaattttctgtgctcttcat	8	6	4	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:113540265T>C	ENST00000505019.1	-	6	1058	c.933A>G	c.(931-933)ttA>ttG	p.L311L	C4orf21_ENST00000445203.2_Silent_p.L280L|C4orf21_ENST00000309071.5_Silent_p.L311L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		311						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)		GCTGGTAGTATAAATTTTCTG	0.368																																						ENST00000505019.1																			0				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						c.(931-933)ttA>ttG		chromosome 4 open reading frame 21							88	92	90					4																	113540265		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113540265T>C																												ENST00000505019.1:c.933A>G	4.37:g.113540265T>C						C4orf21_ENST00000309071.5_Silent_p.L311L|C4orf21_ENST00000445203.2_Silent_p.L280L	p.L311L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1058	-		Ovarian(17;0.156)	311					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.933A>G																																																																																					0.368	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			7	297	0	0	0	1	0	7	297					C	113540265	T	C	113540265	2	2	424	1	0	0	0	0	0	0	0	1	2254	1403	49	3		3	C4orf21	4	113540265	Silent	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		113540265	77614011	7	36392											
ODZ3	55714	broad.mit.edu	37	chr4	183694776	183694776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttcaaatctgtcctcgatcGattctttctacaccatggtt	5	12	4	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:183694776G>T	ENST00000511685.1	+	23	5167	c.5044G>T	c.(5044-5046)Gat>Tat	p.D1682Y	TENM3_ENST00000406950.2_Missense_Mutation_p.D1682Y|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1682					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTCCTCGATCGATTCTTTCTA	0.463																																						ENST00000511685.1																			0											c.(5044-5046)Gat>Tat		teneurin transmembrane protein 3							199	193	195					4																	183694776		2012	4183	6195	SO:0001583	missense	55714							g.chr4:183694776G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5044G>T	4.37:g.183694776G>T	ENSP00000424226:p.Asp1682Tyr					TENM3_ENST00000406950.2_Missense_Mutation_p.D1682Y|RP11-18D7.2_ENST00000513255.1_RNA	p.D1682Y							23	5167	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5044G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162629	0.57368	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86769	-2.17;-2.17	5.11	5.11	0.69529	.	.	.	.	.	D	0.88295	0.6398	L	0.43152	1.355	0.58432	D	0.999997	D	0.60575	0.988	P	0.52031	0.688	D	0.88831	0.3305	9	0.54805	T	0.06	.	18.7361	0.91755	0.0:0.0:1.0:0.0	.	1682	Q9P273	TEN3_HUMAN	Y	1682	ENSP00000424226:D1682Y;ENSP00000385276:D1682Y	ENSP00000385276:D1682Y	D	+	1	0	ODZ3	183931770	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	5.742000	0.68646	2.657000	0.90304	0.655000	0.94253	GAT		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	239	1	0	0.00136819	1	0.0013986	12	239					T	183694776	G	T	183694776	3	4	424	1	0	0	0	0	1	0	0	0	10836	1058	37	4	5130	4	ODZ3	4	183694776	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	70154511	183694776	7459500	8	36393											
BTNL8	79908	broad.mit.edu	37	chr5	180335642	180335642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccttggtgggggaggacGcagcattctcctgtttcctg	15	10	1	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr5:180335642G>A	ENST00000340184.4	+	2	312	c.106G>A	c.(106-108)Gca>Aca	p.A36T	BTNL8_ENST00000505126.1_5'Flank|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000231229.4_Missense_Mutation_p.A36T|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	36	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGGAGGACGCAGCATTCTC	0.537																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(106-108)Gca>Aca		butyrophilin-like 8							86	85	85					5																	180335642		2203	4300	6503	SO:0001583	missense	79908					integral to membrane		g.chr5:180335642G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.106G>A	5.37:g.180335642G>A	ENSP00000342197:p.Ala36Thr					BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.A36T	p.A36T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	340	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	36			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.106G>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516078	0.44763	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.68479	-0.33;-0.33;-0.33	2.58	0.621	0.17643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71400	0.3335	L	0.51422	1.61	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.915;0.966	T	0.58301	-0.7660	9	0.36615	T	0.2	.	6.5775	0.22575	0.2647:0.0:0.7353:0.0	.	36;36;36	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	T	36	ENSP00000231229:A36T;ENSP00000342197:A36T;ENSP00000424585:A36T	ENSP00000231229:A36T	A	+	1	0	BTNL8	180268248	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.458000	0.21892	0.002000	0.14630	0.436000	0.28706	GCA		0.537	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		27	55	0	0	0	1	0	27	55					A	180335642	G	A	180335642	3	1	424	1	0	0	0	0	1	0	0	0	1567	1087	38	1	138	1	BTNL8	5	180335642	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		180335642	579618	9	36394											
KATNA1	11104	broad.mit.edu	37	chr6	149922761	149922761	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaagacgaacaagcttctcaGattctcctctgtatttggaa	8	9	3	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr6:149922761G>C	ENST00000335647.5	-	6	901	c.857C>G	c.(856-858)tCt>tGt	p.S286C	KATNA1_ENST00000367411.2_Missense_Mutation_p.S286C|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAGCTTCTCAGATTCTCCTCT	0.408																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(856-858)tCt>tGt		katanin p60 (ATPase containing) subunit A 1							114	107	109					6																	149922761		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149922761G>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"ATPases / AAA-type"	6216	protein-coding gene	gene with protein product		606696	"katanin p60 (ATPase-containing) subunit A 1"			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.857C>G	6.37:g.149922761G>C	ENSP00000335106:p.Ser286Cys					KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000335647.5_Missense_Mutation_p.S286C	p.S286C	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	7	1115	-		Ovarian(120;0.0164)	286						Missense_Mutation	SNP	ENST00000335647.5	37	c.857C>G	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074226	0.94000	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	D;D;D	0.94280	-3.39;-3.39;-3.39	5.86	5.86	0.93980	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	H	0.97682	4.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.98922	1.0784	9	.	.	.	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	286;210;286	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	C	286;210;286	ENSP00000335106:S286C;ENSP00000335180:S210C;ENSP00000356381:S286C	.	S	-	2	0	KATNA1	149964454	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.835000	0.99442	2.777000	0.95525	0.591000	0.81541	TCT		0.408	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		6	203	0	0	0	1	0	6	203					C	149922761	G	C	149922761	3	2	424	1	0	0	0	0	1	0	0	0	7984	942	33	4	638	4	KATNA1	6	149922761	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		149922761	21192306	10	36395											
TNRC18	84629	broad.mit.edu	37	chr7	5360235	5360235	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctccaccaccacgcgGtatctgtaggagcaaacgag	9	15	2	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:5360235G>C	ENST00000430969.1	-	23	6912	c.6564C>G	c.(6562-6564)taC>taG	p.Y2188*	TNRC18_ENST00000399537.4_Nonsense_Mutation_p.Y2188*	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2188							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)		CCACCACGCGGTATCTGTAGG	0.672																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(6562-6564)taC>taG		trinucleotide repeat containing 18							31	31	31					7																	5360235		1568	3581	5149	SO:0001587	stop_gained	84629						DNA binding	g.chr7:5360235G>C	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.6564C>G	7.37:g.5360235G>C	ENSP00000395538:p.Tyr2188*					TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Y2188*	p.Y2188*			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	23	6912	-		Ovarian(82;0.142)	2188					A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	ENST00000430969.1	37	c.6564C>G	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.48|15.48	2.845415|2.845415	0.51164|0.51164	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|.	.|.	.|.	4.4|4.4	2.58|2.58	0.30949|0.30949	.|.	.|.	.|.	.|.	.|.	T|.	0.16727|.	0.0402|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34527|.	-0.9825|.	3|.	.|0.02654	.|T	.|1	.|.	7.279|7.279	0.26300|0.26300	0.2797:0.0:0.7203:0.0|0.2797:0.0:0.7203:0.0	.|.	.|.	.|.	.|.	A|X	2|2188	.|.	.|ENSP00000382452:Y2188X	P|Y	-|-	1|3	0|2	TNRC18|TNRC18	5326761|5326761	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.013000|0.013000	0.08279|0.08279	3.229000|3.229000	0.51278|0.51278	0.312000|0.312000	0.23038|0.23038	-0.251000|-0.251000	0.11542|0.11542	CCG|TAC		0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	50	0	0	0	1	0	3	50					C	5360235	G	C	5360235	4	2	424	1	0	0	0	0	0	1	0	0	16336	1256	44	4	2374	4	TNRC18	7	5360235	Nonsense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		5360235	153778428	11	36396											
RELN	5649	broad.mit.edu	37	chr7	103322641	103322641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctacatccctggtggtgGcaaaattgaactcgctgcct	10	11	1	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:103322641G>A	ENST00000428762.1	-	11	1370	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	RELN_ENST00000343529.5_Missense_Mutation_p.A404V|RELN_ENST00000424685.2_Missense_Mutation_p.A404V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	404					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)		CCTGGTGGTGGCAAAATTGAA	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				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						c.(1210-1212)gCc>gTc		reelin							156	145	148					7																	103322641		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322641G>A		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.1211C>T	7.37:g.103322641G>A	ENSP00000392423:p.Ala404Val					RELN_ENST00000343529.5_Missense_Mutation_p.A404V|RELN_ENST00000428762.1_Missense_Mutation_p.A404V	p.A404V			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1370	-			404					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1211C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754865	0.89843	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23950	1.89;1.88;1.89	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.19112	0.55	0.58432	D	0.999998	P;D	0.63880	0.884;0.993	B;D	0.68192	0.256;0.956	T	0.07290	-1.0780	10	0.36615	T	0.2	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	404;404	P78509-2;P78509	.;RELN_HUMAN	V	404	ENSP00000392423:A404V;ENSP00000345694:A404V;ENSP00000388446:A404V	ENSP00000345694:A404V	A	-	2	0	RELN	103109877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.596000	0.90844	2.861000	0.98227	0.655000	0.94253	GCC		0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	187	0	0	0	1	0	4	187					A	103322641	G	A	103322641	3	1	424	1	0	0	0	0	1	0	0	0	13220	1203	42	2	9391	2	RELN	7	103322641	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	97962406	103322641	55816022	12	36397											
ADAM2	2515	broad.mit.edu	37	chr8	39666968	39666968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgcatttctatatacttTgcaaaatcttgctgtggctg	7	8	2	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:39666968T>C	ENST00000265708.4	-	7	634	c.531A>G	c.(529-531)gcA>gcG	p.A177A	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.A177A|ADAM2_ENST00000347580.4_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	177					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTATATACTTTGCAAAATCTT	0.259																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(529-531)gcA>gcG		ADAM metallopeptidase domain 2							41	43	42					8																	39666968		2181	4249	6430	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39666968T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.531A>G	8.37:g.39666968T>C						ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.A177A|ADAM2_ENST00000347580.4_Intron	p.A177A	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	7	634	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	177					P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.531A>G	CCDS34884.1																																																																																				0.259	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		4	111	0	0	0	1	0	4	111					C	39666968	T	C	39666968	2	2	424	1	0	0	0	0	0	0	0	1	241	1799	63	3		3	ADAM2	8	39666968	Silent	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		39666968	106697054	13	36398											
CSMD3	114788	broad.mit.edu	37	chr8	113301656	113301656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggttcttgatgactggCctaaaagggaacgctttcct	12	9	1	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:113301656C>T	ENST00000297405.5	-	57	9330	c.9086G>A	c.(9085-9087)gGc>gAc	p.G3029D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3029	Sushi 21. {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						TGATGACTGGCCTAAAAGGGA	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(9085-9087)gGc>gAc		CUB and Sushi multiple domains 3							127	116	120					8																	113301656		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301656C>T	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.9086G>A	8.37:g.113301656C>T	ENSP00000297405:p.Gly3029Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D	p.G3029D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			57	9330	-			3029			Sushi 21.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9086G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834390	0.91036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	6.17	5.3	0.74995	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90041	0.6890	H	0.97707	4.06	0.58432	D	0.999999	D;D;B	0.89917	1.0;1.0;0.285	D;D;B	0.97110	0.999;1.0;0.091	D	0.93521	0.6861	10	0.62326	D	0.03	.	17.1598	0.86801	0.1273:0.8727:0.0:0.0	.	2860;3029;2989	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	2989;3029;2299;2860;2959	ENSP00000345799:G2989D;ENSP00000297405:G3029D;ENSP00000341558:G2299D;ENSP00000412263:G2860D;ENSP00000343124:G2959D	ENSP00000297405:G3029D	G	-	2	0	CSMD3	113370832	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.792000	0.85828	1.623000	0.50342	0.655000	0.94253	GGC		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		66	113	0	0	0	1	0	66	113					T	113301656	C	T	113301656	3	4	424	1	0	0	0	0	1	0	0	0	3946	739	26	2	2097	2	CSMD3	8	113301656	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	73634688	113301656	33062366	14	36399											
SMARCA2	6595	broad.mit.edu	37	chr9	2084102	2084102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtactcctgccatgcGtcgctcccttgtcccccagc	9	18	1	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:2084102G>A	ENST00000382203.1	+	17	2641	c.2432G>A	c.(2431-2433)cGt>cAt	p.R811H	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	811	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		CCTGCCATGCGTCGCTCCCTT	0.403																																						ENST00000382203.1																			0				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						c.(2431-2433)cGt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							87	79	81					9																	2084102		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2084102G>A	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.2432G>A	9.37:g.2084102G>A	ENSP00000371638:p.Arg811His					SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H	p.R811H			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	17	2641	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	811			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2432G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288862	0.95517	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.6	5.6	0.85130	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.95437	3.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.997	D	0.98871	1.0766	10	0.87932	D	0	-8.4526	19.9855	0.97347	0.0:0.0:1.0:0.0	.	412;811;811	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	811	ENSP00000265773:R811H;ENSP00000349788:R811H;ENSP00000371638:R811H;ENSP00000371629:R811H	ENSP00000265773:R811H	R	+	2	0	SMARCA2	2074102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.806000	0.96561	0.655000	0.94253	CGT		0.403	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		34	41	0	0	0	1	0	34	41					A	2084102	G	A	2084102	3	1	424	1	0	0	0	0	1	0	0	0	14769	1145	40	1	2494	1	SMARCA2	9	2084102	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		2084102	139129329	15	36400											
FAM22G	441457	broad.mit.edu	37	chr9	99694200	99694200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaggacaggatggccgCggcccaagtggggctggggc	21	10	0	0	rs557391138		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:99694200C>T	ENST00000372322.3	+	2	234	c.213C>T	c.(211-213)cgC>cgT	p.R71R	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Silent_p.R71R	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	71																	AGGATGGCCGCGGCCCAAGTG	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		14969	0.0		0.001	False		,,,				2504	0.0					ENST00000354649.3																			0											c.(211-213)cgC>cgT		NUT family member 2G							21	26	24					9																	99694200		1857	4089	5946	SO:0001819	synonymous_variant	441457							g.chr9:99694200C>T		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.213C>T	9.37:g.99694200C>T						HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Silent_p.R71R	p.R71R	NM_001045477.2	NP_001038942.1					2	928	+								A6NNI5|Q5VZR3	Silent	SNP	ENST00000372322.3	37	c.213C>T	CCDS55329.1																																																																																				0.642	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		25	49	0	0	0	1	0	25	49					T	99694200	C	T	99694200	2	4	424	1	0	0	0	0	0	0	0	1	5546	755	27	1		1	FAM22G	9	99694200	Silent	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	97610098	99694200	41519231	16	36401											
PDCL	5082	broad.mit.edu	37	chr9	125582829	125582829	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtgaagctgctgccgcatCtcttccattcgctgcttccg	9	14	1	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:125582829C>G	ENST00000259467.4	-	4	606	c.441G>C	c.(439-441)gaG>gaC	p.E147D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	147					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GCTGCCGCATCTCTTCCATTC	0.473																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(439-441)gaG>gaC		phosducin-like							85	84	84					9																	125582829		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125582829C>G	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.441G>C	9.37:g.125582829C>G	ENSP00000259467:p.Glu147Asp						p.E147D	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			4	606	-			147					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.441G>C	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816117	0.70912	.	.	ENSG00000136940	ENST00000259467	T	0.21031	2.03	5.58	4.68	0.58851	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.047188	0.85682	D	0.000000	T	0.29850	0.0746	L	0.46885	1.475	0.58432	D	0.999996	P	0.51147	0.942	P	0.52957	0.714	T	0.02214	-1.1194	10	0.56958	D	0.05	-32.1923	11.7986	0.52114	0.0:0.8536:0.0:0.1464	.	147	Q13371	PHLP_HUMAN	D	147	ENSP00000259467:E147D	ENSP00000259467:E147D	E	-	3	2	PDCL	124622650	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.464000	0.45067	1.369000	0.46134	-0.150000	0.13652	GAG		0.473	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		7	202	0	0	0	1	0	7	202					G	125582829	C	G	125582829	3	3	424	1	0	0	0	0	1	0	0	0	11626	912	32	4	468	4	PDCL	9	125582829	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	25888629	125582829	15630602	17	36402											
AKAP3	10566	broad.mit.edu	37	chr12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcttcagggtactcaaagGaaatgtctgatgcaggctta	10	7	4	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1477-1479)tCc>tTc		A kinase (PRKA) anchor protein 3							70	66	67					12																	4736590		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736590G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1478C>T	12.37:g.4736590G>A	ENSP00000440994:p.Ser493Phe					AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2002	-			493					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1478C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201168	0.06219	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09073	3.02;3.02	5.65	3.72	0.42706	A-kinase anchor 110kDa, C-terminal (1);	0.323582	0.27249	N	0.020222	T	0.06917	0.0176	L	0.36672	1.1	0.09310	N	1	P	0.36753	0.568	B	0.35413	0.202	T	0.25847	-1.0120	10	0.54805	T	0.06	-2.7088	7.4638	0.27310	0.0884:0.1674:0.7442:0.0	.	493	O75969	AKAP3_HUMAN	F	493	ENSP00000228850:S493F;ENSP00000440994:S493F	ENSP00000228850:S493F	S	-	2	0	AKAP3	4606851	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.441000	0.21611	1.537000	0.49254	0.655000	0.94253	TCC		0.453	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		5	77	0	0	0	1	0	5	77					A	4736590	G	A	4736590	3	1	424	1	0	0	0	0	1	0	0	0	452	1174	41	2	1091	2	AKAP3	12	4736590	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		4736590	129115305	18	36403											
KNTC1	9735	broad.mit.edu	37	chr12	123071291	123071291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaccagtttgccatactgCtcccttaatgaaggtatttg	7	10	1	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:123071291C>T	ENST00000333479.7	+	38	3894	c.3717C>T	c.(3715-3717)tgC>tgT	p.C1239C	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1239					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCCATACTGCTCCCTTAATG	0.294																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3715-3717)tgC>tgT		kinetochore associated 1							113	97	102					12																	123071291		1811	4068	5879	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123071291C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3717C>T	12.37:g.123071291C>T						KNTC1_ENST00000450485.2_Intron	p.C1239C	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	38	3894	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1239					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3717C>T	CCDS45002.1																																																																																				0.294	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			4	93	0	0	0	1	0	4	93					T	123071291	C	T	123071291	2	4	424	1	0	0	0	0	0	0	0	1	8428	805	28	2		2	KNTC1	12	123071291	Silent	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	118334701	123071291	10780604	19	36404											
SPERT	220082	broad.mit.edu	37	chr13	46287414	46287414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgagccgcaggatggCgagccagcactcctatccac	12	16	0	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr13:46287414C>T	ENST00000310521.1	+	3	334	c.254C>T	c.(253-255)gCg>gTg	p.A85V	SPERT_ENST00000378966.3_Missense_Mutation_p.A49V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	85						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCAGGATGGCGAGCCAGCAC	0.672																																						ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(145-147)gCg>gTg		spermatid associated							42	43	43					13																	46287414		2203	4299	6502	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287414C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.254C>T	13.37:g.46287414C>T	ENSP00000309189:p.Ala85Val					SPERT_ENST00000310521.1_Missense_Mutation_p.A85V	p.A49V			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	562	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	85					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.146C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	0.514	-0.865301	0.02590	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.41758	0.99;0.99	5.1	-8.14	0.01069	.	1.653960	0.03500	N	0.217967	T	0.26412	0.0645	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.06405	0.002;0.002	T	0.13229	-1.0517	10	0.25751	T	0.34	.	11.8655	0.52490	0.0:0.6165:0.1199:0.2636	.	49;85	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	85;58;49	ENSP00000309189:A85V;ENSP00000368249:A49V	ENSP00000309189:A85V	A	+	2	0	SPERT	45185415	0.005000	0.15991	0.123000	0.21794	0.005000	0.04900	-0.676000	0.05221	-1.440000	0.01960	-1.752000	0.00675	GCG		0.672	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		47	72	0	0	0	1	0	47	72					T	46287414	C	T	46287414	3	4	424	1	0	0	0	0	1	0	0	0	15038	768	27	1	264	1	SPERT	13	46287414	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		46287414	68882464	20	36405											
TRIP11	9321	broad.mit.edu	37	chr14	92472597	92472597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtttctgcttggttaaatGtaaatcatttagggccactt	8	6	2	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:92472597G>A	ENST00000267622.4	-	11	2096	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	575					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)		TTGGTTAAATGTAAATCATTT	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				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						c.(1723-1725)Cat>Tat		thyroid hormone receptor interactor 11							108	107	107					14																	92472597		2202	4297	6499	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472597G>A	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.1723C>T	14.37:g.92472597G>A	ENSP00000267622:p.His575Tyr						p.H575Y	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2096	-			575					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1723C>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.119|7.119	0.577569|0.577569	0.13686|0.13686	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04502|.	3.61|.	6.16|6.16	0.752|0.752	0.18398|0.18398	.|.	0.575191|.	0.20415|.	N|.	0.092789|.	T|T	0.48589|0.48589	0.1508|0.1508	M|M	0.61703|0.61703	1.905|1.905	0.29047|0.29047	N|N	0.884737|0.884737	B;B|.	0.19200|.	0.007;0.034|.	B;B|.	0.16289|.	0.007;0.015|.	T|T	0.46721|0.46721	-0.9171|-0.9171	10|5	0.66056|.	D|.	0.02|.	.|.	7.5849|7.5849	0.27987|0.27987	0.1861:0.0:0.5771:0.2369|0.1861:0.0:0.5771:0.2369	.|.	311;575|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Y|I	575;311|290	ENSP00000267622:H575Y|.	ENSP00000267622:H575Y|.	H|T	-|-	1|2	0|0	TRIP11|TRIP11	91542350|91542350	1.000000|1.000000	0.71417|0.71417	0.060000|0.060000	0.19600|0.19600	0.007000|0.007000	0.05969|0.05969	3.073000|3.073000	0.50057|0.50057	0.185000|0.185000	0.20105|0.20105	-0.761000|-0.761000	0.03458|0.03458	CAT|ACA		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			71	129	0	0	0	1	0	71	129					A	92472597	G	A	92472597	3	1	424	1	0	0	0	0	1	0	0	0	16552	1377	48	2	4260	2	TRIP11	14	92472597	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		92472597	14876943	21	36406											
TRAF3	7187	broad.mit.edu	37	chr14	103371628	103371628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagccgacatggacctgcGcttccaggtcctggagaccg	12	15	0	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:103371628G>A	ENST00000560371.1	+	11	1431	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	TRAF3_ENST00000539721.1_Missense_Mutation_p.R322H|TRAF3_ENST00000347662.4_Missense_Mutation_p.R380H|TRAF3_ENST00000392745.2_Missense_Mutation_p.R405H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R380H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	405				R -> G (in Ref. 4; AAA56753). {ECO:0000305}.	apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|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)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|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(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		ATGGACCTGCGCTTCCAGGTC	0.617																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1213-1215)cGc>cAc		TNF receptor-associated factor 3							73	71	71					14																	103371628		2203	4300	6503	SO:0001583	missense	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103371628G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1214G>A	14.37:g.103371628G>A	ENSP00000454207:p.Arg405His					TRAF3_ENST00000347662.4_Missense_Mutation_p.R380H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R380H|TRAF3_ENST00000539721.1_Missense_Mutation_p.R322H|TRAF3_ENST00000392745.2_Missense_Mutation_p.R405H	p.R405H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1431	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	405	R -> G (in Ref. 4; AAA56753).				B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1214G>A	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456223	0.63401	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.79247	-1.25;-1.25;0.71	5.45	4.56	0.56223	TRAF-type (1);	0.164918	0.52532	D	0.000065	D	0.87826	0.6275	M	0.80183	2.485	0.49213	D	0.999769	D;D;D	0.89917	1.0;0.993;1.0	D;B;D	0.80764	0.994;0.398;0.968	D	0.89414	0.3705	10	0.87932	D	0	-32.4883	14.1781	0.65557	0.0717:0.0:0.9283:0.0	.	322;380;405	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	H	405;380;405;322	ENSP00000376500:R405H;ENSP00000328003:R380H;ENSP00000445998:R322H	ENSP00000328003:R380H	R	+	2	0	TRAF3	102441381	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	6.419000	0.73345	1.310000	0.45006	-0.136000	0.14681	CGC		0.617	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		4	140	0	0	0	1	0	4	140					A	103371628	G	A	103371628	3	1	424	1	0	0	0	0	1	0	0	0	16436	1087	38	1	1252	1	TRAF3	14	103371628	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	10899031	103371628	3977912	22	36407											
SORD	6652	broad.mit.edu	37	chr15	45357562	45357562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggcggagttaccctgggAcacaaggtccttgtgtgtgg	16	8	0	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:45357562A>G	ENST00000267814.9	+	5	699	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SORD_ENST00000558580.1_Silent_p.G152G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	173					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TTACCCTGGGACACAAGGTCC	0.562																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(517-519)ggA>ggG		sorbitol dehydrogenase	NADH(DB00157)						65	61	63					15																	45357562		2198	4295	6493	SO:0001819	synonymous_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45357562A>G		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.519A>G	15.37:g.45357562A>G						SORD_ENST00000558580.1_Silent_p.G152G	p.G173G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	5	699	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	173					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Silent	SNP	ENST00000267814.9	37	c.519A>G	CCDS10116.1																																																																																				0.562	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			49	113	0	0	0	1	0	49	113					G	45357562	A	G	45357562	2	3	424	1	0	0	0	0	0	0	0	1	14933	262	10	3		3	SORD	15	45357562	Silent	SNP	A	TCGA-S9-A6U8-01A-21D-A33T-08		45357562	57173830	23	36408											
ACAN	176	broad.mit.edu	37	chr15	89417087	89417087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagtggcctgcggagagCcccctgtggtggagcatgcc	15	14	1	1	rs375041472		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:89417087C>T	ENST00000561243.1	+	16	7348	c.7348C>T	c.(7348-7350)Ccc>Tcc	p.P2450S	ACAN_ENST00000439576.2_Missense_Mutation_p.P2450S|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S			P16112	PGCA_HUMAN	aggrecan	2335					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)			CTGCGGAGAGCCCCCTGTGGT	0.592																																						ENST00000439576.2																			0				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						c.(7348-7350)Ccc>Tcc		aggrecan		C	SER/PRO,	0,3814		0,0,1907	36	39	38		7348,	5.3	0.9	15		38	2,8246		0,2,4122	no	missense,intron	ACAN	NM_013227.3,NM_001135.3	74,	0,2,6029	TT,TC,CC		0.0242,0.0,0.0166	probably-damaging,	2450/2531,	89417087	2,12060	1907	4124	6031	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417087C>T	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.7348C>T	15.37:g.89417087C>T	ENSP00000453342:p.Pro2450Ser					ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.P2450S|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S	p.P2450S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7722	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2450					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.7348C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368593	0.61624	0.0	2.42E-4	ENSG00000157766	ENST00000439576;ENST00000268134	D	0.84516	-1.86	5.31	5.31	0.75309	.	0.000000	0.32343	N	0.006224	D	0.94915	0.8356	H	0.95437	3.67	0.48395	D	0.999642	D	0.89917	1.0	D	0.83275	0.996	D	0.96289	0.9212	10	0.87932	D	0	-16.8016	17.9774	0.89131	0.0:1.0:0.0:0.0	.	2450	E7EX88	.	S	2450;2336	ENSP00000387356:P2450S	ENSP00000268134:P2336S	P	+	1	0	ACAN	87218091	1.000000	0.71417	0.939000	0.37840	0.007000	0.05969	7.716000	0.84723	2.480000	0.83734	0.650000	0.86243	CCC		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		29	52	0	0	0	1	0	29	52					T	89417087	C	T	89417087	3	4	424	1	0	0	0	0	1	0	0	0	117	739	26	2	7410	2	ACAN	15	89417087	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	44059525	89417087	13114305	24	36409											
NKD1	85407	broad.mit.edu	37	chr16	50666305	50666305	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgggatagaaaactacacgtCccaatttgggcctggtaagg	12	9	0	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:50666305C>G	ENST00000268459.3	+	9	1033	c.809C>G	c.(808-810)tCc>tGc	p.S270C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	270					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AACTACACGTCCCAATTTGGG	0.597																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(808-810)tCc>tGc		naked cuticle homolog 1 (Drosophila)							92	69	77					16																	50666305		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666305C>G	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.809C>G	16.37:g.50666305C>G	ENSP00000268459:p.Ser270Cys						p.S270C	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	9	1033	+		all_cancers(37;0.229)	270					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.809C>G	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783120	0.90282	.	.	ENSG00000140807	ENST00000268459	T	0.78003	-1.14	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90850	0.4730	10	0.87932	D	0	-23.0023	18.6084	0.91275	0.0:1.0:0.0:0.0	.	270	Q969G9	NKD1_HUMAN	C	270	ENSP00000268459:S270C	ENSP00000268459:S270C	S	+	2	0	NKD1	49223806	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.578000	0.82498	2.403000	0.81681	0.563000	0.77884	TCC		0.597	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			36	44	0	0	0	1	0	36	44					G	50666305	C	G	50666305	3	3	424	1	0	0	0	0	1	0	0	0	10441	855	30	4	843	4	NKD1	16	50666305	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		50666305	39688448	25	36410											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	12	7	0	0	rs587782664		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(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	GRCh37	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130	102	112					17																	7577570		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577570C>T	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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	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)				TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	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	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		96	27	0	0	0	1	0	96	27					T	7577570	C	T	7577570	3	4	424	1	0	0	0	0	1	0	0	0	16378	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		7577570	73617640	26	36411											
KRT26	353288	broad.mit.edu	37	chr17	38926244	38926244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcttcagcatctttgCggttctgctcagccaagtcc	9	14	4	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:38926244C>T	ENST00000335552.4	-	4	860	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGCATCTTTGCGGTTCTGCTC	0.512																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(811-813)cGc>cAc		keratin 26							228	202	211					17																	38926244		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38926244C>T	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.812G>A	17.37:g.38926244C>T	ENSP00000334798:p.Arg271His						p.R271H	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			4	860	-		Breast(137;0.00526)	271			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000335552.4	37	c.812G>A	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201191	0.58234	.	.	ENSG00000186393	ENST00000335552	D	0.90004	-2.6	5.0	5.0	0.66597	Filament (1);	0.103684	0.43747	D	0.000536	D	0.90376	0.6988	M	0.82132	2.575	0.37107	D	0.90014	B	0.31599	0.33	B	0.33890	0.172	D	0.92088	0.5678	10	0.59425	D	0.04	.	18.653	0.91437	0.0:1.0:0.0:0.0	.	271	Q7Z3Y9	K1C26_HUMAN	H	271	ENSP00000334798:R271H	ENSP00000334798:R271H	R	-	2	0	KRT26	36179770	0.245000	0.23899	0.980000	0.43619	0.699000	0.40488	0.866000	0.27954	2.485000	0.83878	0.655000	0.94253	CGC		0.512	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		5	385	0	0	0	1	0	5	385					T	38926244	C	T	38926244	3	4	424	1	0	0	0	0	1	0	0	0	8463	768	27	1	614	1	KRT26	17	38926244	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	31348674	38926244	42268966	27	36412											
MUC16	94025	broad.mit.edu	37	chr19	9073155	9073155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggtactgtgccattgcGgtgtgaaagcaacagaagaa	14	6	0	3	rs371360570		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:9073155G>A	ENST00000397910.4	-	3	14494	c.14291C>T	c.(14290-14292)cCg>cTg	p.P4764L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4766	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.P4764L(2)|p.P397L(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						GTGCCATTGCGGTGTGAAAGC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		22552	0.0		0.001	False		,,,				2504	0.0					ENST00000397910.4																			3	Substitution - Missense(3)	p.P4764L(2)|p.P397L(1)	prostate(3)	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						c.(14290-14292)cCg>cTg		mucin 16, cell surface associated			LEU/PRO	1,4183		0,1,2091	100	96	97		14291	-2.6	0	19		97	0,8424		0,0,4212	no	missense	MUC16	NM_024690.2	98	0,1,6303	AA,AG,GG		0.0,0.0239,0.0079	benign	4764/14508	9073155	1,12607	2092	4212	6304	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073155G>A	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.14291C>T	19.37:g.9073155G>A	ENSP00000381008:p.Pro4764Leu						p.P4764L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14494	-			4766			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14291C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.569	-0.534580	0.04082	2.39E-4	0.0	ENSG00000181143	ENST00000397910	T	0.14766	2.48	1.32	-2.63	0.06133	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.35201	-0.9798	8	0.87932	D	0	.	6.2889	0.21049	0.3633:0.0:0.6367:0.0	.	4764	B5ME49	.	L	4764	ENSP00000381008:P4764L	ENSP00000381008:P4764L	P	-	2	0	MUC16	8934155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.636000	0.02016	-0.974000	0.03550	-0.778000	0.03378	CCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		69	106	0	0	0	1	0	69	106					A	9073155	G	A	9073155	3	1	424	1	0	0	0	0	1	0	0	0	9973	1116	39	1	29560	1	MUC16	19	9073155	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		9073155	50055828	28	36413											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628302	51628302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacaagtaaactgctgaCgatgcagagttccgtgacgg	12	9	0	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:51628302C>T	ENST00000250360.3	+	1	138	c.71C>T	c.(70-72)aCg>aTg	p.T24M	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.T24M	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AAACTGCTGACGATGCAGAGT	0.617																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(70-72)aCg>aTg		sialic acid binding Ig-like lectin 9							152	102	119					19																	51628302		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628302C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.71C>T	19.37:g.51628302C>T	ENSP00000250360:p.Thr24Met					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T24M	p.T24M	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	138	+		all_neural(266;0.0529)	24			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.71C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	6.889	0.533518	0.13188	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.49139	0.79;0.79	2.88	-0.689	0.11313	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.745650	0.03583	N	0.230407	T	0.33498	0.0865	L	0.40543	1.245	0.09310	N	1	P	0.36162	0.54	B	0.27380	0.079	T	0.16335	-1.0406	10	0.59425	D	0.04	.	3.1405	0.06453	0.484:0.2325:0.2835:0.0	.	24	Q9Y336	SIGL9_HUMAN	M	24	ENSP00000413861:T24M;ENSP00000250360:T24M	ENSP00000250360:T24M	T	+	2	0	SIGLEC9	56320114	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.984000	0.03755	-0.569000	0.06030	-0.777000	0.03380	ACG		0.617	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		34	60	0	0	0	1	0	34	60					T	51628302	C	T	51628302	3	4	424	1	0	0	0	0	1	0	0	0	14315	536	19	1	73	1	SIGLEC9	19	51628302	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	42555147	51628302	7500681	29	36414											
KIAA1755	85449	broad.mit.edu	37	chr20	36874469	36874469	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggtgggtgctgtggcctcGaaaggaggatagaggcccgc	18	9	0	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:36874469G>A	ENST00000279024.4	-	2	334	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										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)				CTGTGGCCTCGAAAGGAGGAT	0.602																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(61-63)ttC>ttT		KIAA1755							53	47	49					20																	36874469		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36874469G>A	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.63C>T	20.37:g.36874469G>A							p.F21F	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			2	334	-		Myeloproliferative disorder(115;0.00874)	21					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.63C>T	CCDS33467.1																																																																																				0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		18	40	0	0	0	1	0	18	40					A	36874469	G	A	36874469	2	1	424	1	0	0	0	0	0	0	0	1	8257	1049	37	1		1	KIAA1755	20	36874469	Silent	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		36874469	26151051	30	36415											
ATRX	546	broad.mit.edu	37	chrX	76813106	76813106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgatcataaatcttatctTccatggttccctttgtaaaa	5	10	3	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:76813106T>C	ENST00000373344.5	-	30	6729	c.6515A>G	c.(6514-6516)gAa>gGa	p.E2172G	ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						AATCTTATCTTCCATGGTTCC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6514-6516)gAa>gGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						114	102	106					X																	76813106		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813106T>C	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.6515A>G	X.37:g.76813106T>C	ENSP00000362441:p.Glu2172Gly					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G	p.E2172G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6729	-			2172			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6515A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352162	0.61183	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95885	-3.84;-3.84	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99605	1.0979	10	0.87932	D	0	-15.3171	14.7231	0.69323	0.0:0.0:0.0:1.0	.	2134;2172	P46100-4;P46100	.;ATRX_HUMAN	G	2172;2134	ENSP00000362441:E2172G;ENSP00000378967:E2134G	ENSP00000362441:E2172G	E	-	2	0	ATRX	76699762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.694000	0.84235	1.858000	0.53909	0.486000	0.48141	GAA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		90	36	0	0	0	1	0	90	36					C	76813106	T	C	76813106	3	2	424	1	0	0	0	0	1	0	0	0	1208	1783	62	3	987	3	ATRX	23	76813106	Missense_Mutation	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		76813106	78457454	31	36416											
MAN1C1	57134	broad.mit.edu	37	chr1	26104708	26104708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctgtttctccggggGcatgatcgcccttggcgccg	14	15	1	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:26104708G>A	ENST00000374332.4	+	9	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	457					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1369-1371)gGc>gAc		mannosidase, alpha, class 1C, member 1							49	51	50					1																	26104708		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26104708G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1370G>A	1.37:g.26104708G>A	ENSP00000363452:p.Gly457Asp					MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D	p.G457D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	9	1700	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	457					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1370G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368587	0.95900	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	D;D;D	0.87029	-2.2;-2.2;-2.2	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98740	1.0716	10	0.87932	D	0	.	18.9545	0.92653	0.0:0.0:1.0:0.0	.	457	Q9NR34	MA1C1_HUMAN	D	457;277;277;228	ENSP00000363452:G457D;ENSP00000263979:G277D;ENSP00000363449:G228D	ENSP00000263979:G277D	G	+	2	0	MAN1C1	25977295	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.581000	0.98210	2.702000	0.92279	0.655000	0.94253	GGC		0.612	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		18	21	0	0	0	1	0	18	21					A	26104708	G	A	26104708	3	1	425	1	0	0	0	0	1	0	0	0	9213	1203	42	2	1404	2	MAN1C1	1	26104708	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		26104708	223145913	1	36417											
LRP8	7804	broad.mit.edu	37	chr1	53736990	53736990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagatgtgtgagcagccGccattgttgtgcagacactc	13	10	0	3	rs374879339		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:53736990G>A	ENST00000306052.6	-	7	1136	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000371454.2_Silent_p.G345G|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.G175G|RP4-784A16.1_ENST00000432653.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	345	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGAGCAGCCGCCATTGTTGT	0.612																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1033-1035)ggC>ggT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor		G	,,,	1,4405	2.1+/-5.4	0,1,2202	73	67	69		1035,1035,648,525	-10.3	0	1		69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LRP8	NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	345/905,345/964,216/701,175/794	53736990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53736990G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1035C>T	1.37:g.53736990G>A						LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000347547.2_Silent_p.G175G|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.G345G	p.G345G	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			7	1136	-			345			EGF-like 1.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1035C>T	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	0.272	-0.992327	0.02162	2.27E-4	0.0	ENSG00000157193	ENST00000475501	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62353	-0.6872	4	.	.	.	.	7.9894	0.30231	0.5151:0.331:0.0877:0.0663	.	.	.	.	V	34	.	.	A	-	2	0	LRP8	53509578	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-4.659000	0.00202	-4.072000	0.00076	-2.129000	0.00344	GCG		0.612	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	59	0	0	0	1	0	5	59					A	53736990	G	A	53736990	2	1	425	1	0	0	0	0	0	0	0	1	8963	1074	38	1		1	LRP8	1	53736990	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	27632282	53736990	195513631	2	36418											
SLC9A4	389015	broad.mit.edu	37	chr2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctaaagagattctgatcCgccgccagaacaccttaagg	10	11	1	3	rs201264205		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1888-1890)Cgc>Tgc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4		C	CYS/ARG	0,4406		0,0,2203	159	166	164		1888	5.8	1	2		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/799	103141552	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141552C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1888C>T	2.37:g.103141552C>T	ENSP00000295269:p.Arg630Cys						p.R630C	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2345	+			630					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1888C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073447	0.76415	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.48201	0.82	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.56124	0.1964	M	0.86268	2.805	0.58432	D	0.999996	B	0.32350	0.366	B	0.28916	0.096	T	0.61163	-0.7118	10	0.62326	D	0.03	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	C	630	ENSP00000295269:R630C	ENSP00000295269:R630C	R	+	1	0	SLC9A4	102507984	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.751000	0.62169	2.765000	0.95021	0.643000	0.83706	CGC		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		5	150	0	0	0	1	0	5	150					T	103141552	C	T	103141552	3	4	425	1	0	0	0	0	1	0	0	0	14716	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		103141552	140057821	3	36419											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	29	0	0	0	1	0	15	29					A	209113113	G	A	209113113	3	1	425	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	105971561	209113113	34086260	4	36420											
WNT7A	7476	broad.mit.edu	37	chr3	13896294	13896294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggtgaacgcagcctccCggctccctgcgaggaggaga	15	13	0	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:13896294C>T	ENST00000285018.4	-	3	609	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|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)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCAGCCTCCCGGCTCCCTGC	0.622																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(304-306)cGg>cAg		wingless-type MMTV integration site family, member 7A							52	52	52					3																	13896294		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896294C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.305G>A	3.37:g.13896294C>T	ENSP00000285018:p.Arg102Gln						p.R102Q	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	609	-			102					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.305G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192949	0.78902	.	.	ENSG00000154764	ENST00000285018	T	0.81078	-1.45	5.16	5.16	0.70880	.	0.264784	0.36444	N	0.002591	D	0.90642	0.7065	M	0.89658	3.05	0.48288	D	0.999626	D	0.60160	0.987	P	0.59643	0.861	D	0.92685	0.6161	10	0.87932	D	0	.	18.6562	0.91455	0.0:1.0:0.0:0.0	.	102	O00755	WNT7A_HUMAN	Q	102	ENSP00000285018:R102Q	ENSP00000285018:R102Q	R	-	2	0	WNT7A	13871295	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	2.925000	0.48884	2.410000	0.81850	0.561000	0.74099	CGG		0.622	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		9	37	0	0	0	1	0	9	37					T	13896294	C	T	13896294	3	4	425	1	0	0	0	0	1	0	0	0	17391	652	23	1	752	1	WNT7A	3	13896294	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		13896294	184126136	5	36421											
ITIH1	3697	broad.mit.edu	37	chr3	52822010	52822010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccatcagcgttcgtgCtgtcagccttgcagccttct	8	17	3	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:52822010C>T	ENST00000273283.2	+	17	1957	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	ITIH1_ENST00000405128.3_Silent_p.L11L|ITIH1_ENST00000537050.1_Silent_p.L357L|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000542827.1_Intron	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	645	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)		AGCGTTCGTGCTGTCAGCCTT	0.607																																						ENST00000273283.2																			0				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						c.(1933-1935)Ctg>Ttg		inter-alpha-trypsin inhibitor heavy chain 1							145	133	137					3																	52822010		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52822010C>T		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.1933C>T	3.37:g.52822010C>T						ITIH1_ENST00000405128.3_Silent_p.L11L|ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000537050.1_Silent_p.L357L	p.L645L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		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)	17	1957	+			645			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1933C>T	CCDS2864.1																																																																																				0.607	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		34	58	0	0	0	1	0	34	58					T	52822010	C	T	52822010	2	4	425	1	0	0	0	0	0	0	0	1	7903	796	28	2		2	ITIH1	3	52822010	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	38925716	52822010	145200420	6	36422											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121	119	119					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro					DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	p.L231P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115		3	49	0	0	0	1	0	3	49					C	52777312	T	C	52777312	3	2	425	1	0	0	0	0	1	0	0	0	4316	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-S9-A6U9-01A-11D-A32B-08		52777312	138376964	7	36423											
ANXA10	11199	broad.mit.edu	37	chr4	169100462	169100462	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgctggttgcaatTggtaagtaataaattatttg	11	4	0	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:169100462T>C	ENST00000359299.3	+	9	909	c.723T>C	c.(721-723)atT>atC	p.I241I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	241						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGGTTGCAATTGGTAAGTAAT	0.338																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.e9+1		annexin A10							55	56	55					4																	169100462		2203	4300	6503	SO:0001630	splice_region_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169100462T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.724+1T>C	4.37:g.169100462T>C							p.I241_splice	NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	9	909	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	241					Q96IQ5|Q9UJV4	Splice_Site	SNP	ENST00000359299.3	37	c.724_splice	CCDS34096.1																																																																																				0.338	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	Silent	6	2	0	0	0	1	0	6	2					C	169100462	T	C	169100462	5	2	425	1	0	0	0	0	0	0	1	0	715	1826	63	3	757	3	ANXA10	4	169100462	Splice_Site	SNP	T	TCGA-S9-A6U9-01A-11D-A32B-08	116323150	169100462	22053814	8	36424											
YIPF3	25844	broad.mit.edu	37	chr6	43480227	43480227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagagcaggaagagcatGtgtagggcagccagggtgcc	17	7	0	3	rs147670761	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:43480227G>A	ENST00000372422.2	-	8	1037	c.855C>T	c.(853-855)caC>caT	p.H285H	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Silent_p.H291H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	285					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGAAGAGCATGTGTAGGGCAG	0.567													G|||	4	0.000798722	0.0	0.0	5008	,	,		19918	0.004		0.0	False		,,,				2504	0.0					ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(853-855)caC>caT		Yip1 domain family, member 3							42	44	43					6																	43480227		2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480227G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.855C>T	6.37:g.43480227G>A						YIPF3_ENST00000506469.1_Silent_p.H291H	p.H285H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		8	1037	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		285					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.855C>T	CCDS4899.1																																																																																				0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		7	6	0	0	0	1	0	7	6					A	43480227	G	A	43480227	2	1	425	1	0	0	0	0	0	0	0	1	17476	1368	48	2		2	YIPF3	6	43480227	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		43480227	127634840	9	36425											
PKHD1	5314	broad.mit.edu	37	chr6	51484035	51484035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctctcttgtctgaaGtctgggcatagcagcagcag	12	11	3	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:51484035G>A	ENST00000371117.3	-	67	12344	c.12069C>T	c.(12067-12069)gaC>gaT	p.D4023D	RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4023					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)					CTTGTCTGAAGTCTGGGCATA	0.567																																						ENST00000371117.3																			0				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						c.(12067-12069)gaC>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							55	53	54					6																	51484035		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484035G>A	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.12069C>T	6.37:g.51484035G>A						RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	p.D4023D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12344	-	Lung NSC(77;0.0605)		4023					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.12069C>T	CCDS4935.1																																																																																				0.567	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	23	0	0	0	1	0	10	23					A	51484035	G	A	51484035	2	1	425	1	0	0	0	0	0	0	0	1	11971	1020	36	2		2	PKHD1	6	51484035	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	8003808	51484035	119631032	10	36426											
PHF3	23469	broad.mit.edu	37	chr6	64408211	64408211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccttctgcagatcagAtcaggcaaagtgtcagacat	9	11	4	3			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:64408211A>G	ENST00000262043.3	+	7	3119	c.2779A>G	c.(2779-2781)Atc>Gtc	p.I927V	PHF3_ENST00000393387.1_Missense_Mutation_p.I927V			Q92576	PHF3_HUMAN	PHD finger protein 3	927	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)			TGCAGATCAGATCAGGCAAAG	0.343																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2779-2781)Atc>Gtc		PHD finger protein 3							140	142	141					6																	64408211		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64408211A>G	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.2779A>G	6.37:g.64408211A>G	ENSP00000262043:p.Ile927Val					PHF3_ENST00000393387.1_Missense_Mutation_p.I927V	p.I927V			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		7	3119	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		927			TFIIS central.		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2779A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319902	0.60634	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.49	5.49	0.81192	Transcription elongation factor S-II, central domain (4);	0.000000	0.40469	N	0.001094	T	0.39279	0.1072	N	0.17082	0.46	0.80722	D	1	P	0.47350	0.894	D	0.74348	0.983	T	0.41088	-0.9528	10	0.40728	T	0.16	-8.4127	15.8791	0.79189	1.0:0.0:0.0:0.0	.	927	Q92576	PHF3_HUMAN	V	741;196;927;927	ENSP00000424694:I741V;ENSP00000425338:I196V;ENSP00000262043:I927V;ENSP00000377048:I927V	ENSP00000262043:I927V	I	+	1	0	PHF3	64466170	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.620000	0.90943	2.213000	0.71641	0.397000	0.26171	ATC		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			44	109	0	0	0	1	0	44	109					G	64408211	A	G	64408211	3	3	425	1	0	0	0	0	1	0	0	0	11836	333	12	3	2801	3	PHF3	6	64408211	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	12924176	64408211	106706856	11	36427											
VGLL2	245806	broad.mit.edu	37	chr6	117591791	117591791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcccccgccgctgggCagccctctggccaccgcgca	12	21	1	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:117591791C>T	ENST00000326274.5	+	3	667	c.477C>T	c.(475-477)ggC>ggT	p.G159G	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGCCGCTGGGCAGCCCTCTGG	0.741																																						ENST00000326274.5																			0				central_nervous_system(1)|kidney(1)|lung(3)	5						c.(475-477)ggC>ggT		vestigial like 2 (Drosophila)							6	8	7					6																	117591791		2089	4134	6223	SO:0001819	synonymous_variant	245806				transcription, DNA-dependent	nucleus		g.chr6:117591791C>T	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.477C>T	6.37:g.117591791C>T						VGLL2_ENST00000352536.3_Intron	p.G159G	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	3	667	+			159					Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.477C>T	CCDS5115.1																																																																																				0.741	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		4	3	0	0	0	1	0	4	3					T	117591791	C	T	117591791	2	4	425	1	0	0	0	0	0	0	0	1	17156	697	25	2		2	VGLL2	6	117591791	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	53183580	117591791	53523276	12	36428											
SNX9	51429	broad.mit.edu	37	chr6	158357011	158357011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgaaacagatctcaAtgatgcaataacagaagcag	9	7	2	4	rs187768612	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:158357011A>G	ENST00000392185.3	+	14	1553	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	RNU6-786P_ENST00000516849.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	461	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ACAGATCTCAATGATGCAATA	0.303													A|||	4	0.000798722	0.003	0.0	5008	,	,		17589	0.0		0.0	False		,,,				2504	0.0					ENST00000392185.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1381-1383)aAt>aGt		sorting nexin 9							76	71	73					6																	158357011		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158357011A>G	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1382A>G	6.37:g.158357011A>G	ENSP00000376024:p.Asn461Ser						p.N461S	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	14	1553	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	461			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1382A>G	CCDS5253.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	A	16.15	3.041575	0.55003	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.38401	1.14	5.42	5.42	0.78866	Sorting nexin protein, WASP-binding domain (1);	0.055757	0.64402	D	0.000001	T	0.11793	0.0287	N	0.21324	0.655	0.45822	D	0.998695	P	0.36789	0.57	B	0.32980	0.156	T	0.06752	-1.0809	10	0.31617	T	0.26	-11.435	15.4373	0.75157	1.0:0.0:0.0:0.0	.	461	Q9Y5X1	SNX9_HUMAN	S	461;461;261	ENSP00000376024:N461S	ENSP00000252631:N261S	N	+	2	0	SNX9	158276999	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	5.886000	0.69743	-0.660000	0.05352	0.533000	0.62120	AAT		0.303	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			10	20	0	0	0	1	0	10	20					G	158357011	A	G	158357011	3	3	425	1	0	0	0	0	1	0	0	0	14909	101	4	3	1436	3	SNX9	6	158357011	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	40765220	158357011	12758056	13	36429											
TCP10	6953	broad.mit.edu	37	chr6	167796320	167796320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccggcattgctGtcctccctggggacctcggc	12	17	1	0	rs562134831	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000366827.2_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		3	8	0	0	0	1	0	3	8					A	167796320	G	A	167796320	2	1	425	1	0	0	0	0	0	0	0	1	15707	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	9439309	167796320	3318747	14	36430											
TNRC18	84629	broad.mit.edu	37	chr7	5402311	5402311	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgcgcatccagctgtaCttcttgttgggcttcagctc	9	12	3	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr7:5402311C>G	ENST00000430969.1	-	12	4713	c.4365G>C	c.(4363-4365)aaG>aaC	p.K1455N	TNRC18_ENST00000399537.4_Missense_Mutation_p.K1455N	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1455							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)		TCCAGCTGTACTTCTTGTTGG	0.677																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(4363-4365)aaG>aaC		trinucleotide repeat containing 18							28	36	33					7																	5402311		2018	4165	6183	SO:0001583	missense	84629						DNA binding	g.chr7:5402311C>G	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.4365G>C	7.37:g.5402311C>G	ENSP00000395538:p.Lys1455Asn					TNRC18_ENST00000430969.1_Missense_Mutation_p.K1455N	p.K1455N			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	12	4713	-		Ovarian(82;0.142)	1455					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.4365G>C	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618709	0.28801	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544	T;T	0.27104	1.71;1.69	5.34	3.49	0.39957	.	0.000000	0.46758	D	0.000272	T	0.49167	0.1541	M	0.73962	2.25	0.47476	D	0.999433	D	0.89917	1.0	D	0.85130	0.997	T	0.53479	-0.8433	10	0.66056	D	0.02	.	12.5115	0.56007	0.0:0.8596:0.0:0.1404	.	1455	O15417	TNC18_HUMAN	N	1455;1455;510	ENSP00000382452:K1455N;ENSP00000395538:K1455N	ENSP00000382452:K1455N	K	-	3	2	TNRC18	5368837	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.408000	0.34668	1.216000	0.43427	0.561000	0.74099	AAG		0.677	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	1	0	0	0	1	0	4	1					G	5402311	C	G	5402311	3	3	425	1	0	0	0	0	1	0	0	0	16336	564	20	4	4617	4	TNRC18	7	5402311	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		5402311	153736352	15	36431											
CSPP1	79848	broad.mit.edu	37	chr8	68074125	68074125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagacctccttcagttgAcagcatcatacgttccttta	5	13	2	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:68074125A>G	ENST00000262210.5	+	20	2634	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	903					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)			CCTTCAGTTGACAGCATCATA	0.343																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2602-2604)gAc>gGc		centrosome and spindle pole associated protein 1							186	182	183					8																	68074125		1861	4103	5964	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68074125A>G	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.2603A>G	8.37:g.68074125A>G	ENSP00000262210:p.Asp868Gly					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G	p.D868G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		20	2634	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	903					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2603A>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711762	0.68730	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.35973	1.29;1.28;1.28	5.09	3.95	0.45737	.	0.343695	0.32548	N	0.005958	T	0.34542	0.0901	L	0.51422	1.61	0.32264	N	0.569732	P;P;B	0.51537	0.946;0.655;0.084	P;B;B	0.44561	0.453;0.269;0.028	T	0.51236	-0.8731	10	0.51188	T	0.08	-14.9783	11.1978	0.48724	0.9235:0.0:0.0765:0.0	.	523;868;903	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	G	868;903;523;523	ENSP00000262210:D868G;ENSP00000415782:D523G;ENSP00000430092:D523G	ENSP00000262210:D868G	D	+	2	0	CSPP1	68236679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.448000	0.66612	2.275000	0.75901	0.528000	0.53228	GAC		0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		38	94	0	0	0	1	0	38	94					G	68074125	A	G	68074125	3	3	425	1	0	0	0	0	1	0	0	0	3962	275	10	3	2794	3	CSPP1	8	68074125	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08		68074125	78289897	16	36432											
SNX31	169166	broad.mit.edu	37	chr8	101612660	101612660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcccatcctttttcaatgtCctgtattgccttaaaataac	5	11	1	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:101612660C>T	ENST00000311812.2	-	9	841	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	231					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCAATGTCCTGTATTGCC	0.348																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(691-693)Gac>Aac		sorting nexin 31							185	172	176					8																	101612660		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101612660C>T		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.691G>A	8.37:g.101612660C>T	ENSP00000312368:p.Asp231Asn					SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	p.D231N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		9	841	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		231					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.691G>A	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094527	0.76870	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.38560	1.49;1.13	5.06	5.06	0.68205	.	0.095144	0.44097	D	0.000482	T	0.66973	0.2844	M	0.83223	2.63	0.52099	D	0.999947	D;P	0.63880	0.993;0.877	D;P	0.66602	0.945;0.494	T	0.72404	-0.4304	10	0.87932	D	0	-20.0087	17.3678	0.87368	0.0:1.0:0.0:0.0	.	132;231	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	N	231;132	ENSP00000312368:D231N;ENSP00000405024:D132N	ENSP00000312368:D231N	D	-	1	0	SNX31	101681836	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.588000	0.60999	2.618000	0.88619	0.557000	0.71058	GAC		0.348	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		38	80	0	0	0	1	0	38	80					T	101612660	C	T	101612660	3	4	425	1	0	0	0	0	1	0	0	0	14901	855	30	2	655	2	SNX31	8	101612660	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	33538535	101612660	44751362	17	36433											
DLG5	9231	broad.mit.edu	37	chr10	79685993	79685993	+	Frame_Shift_Del	DEL	G	G	-													acccgcgccttcggcgggctGcggcggcccgacgacgccgt							TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:79685993delG	ENST00000372391.2	-	1	291	c.286delC	c.(286-288)cagfs	p.Q96fs	DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs|DLG5-AS1_ENST00000449852.1_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	96					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)			TCGGCGGGCTGCGGCGGCCCG	0.726																																						ENST00000372391.2																			0				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						c.(286-288)agfs		discs, large homolog 5 (Drosophila)							4	8	7					10																	79685993		1427	3328	4755	SO:0001589	frameshift_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79685993delG	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.286delC	10.37:g.79685993delG	ENSP00000361467:p.Gln96fs					DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs	p.Q96fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		1	291	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		96					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Frame_Shift_Del	DEL	ENST00000372391.2	37	c.286delC	CCDS7353.2																																																																																				0.726	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			2	4						2	4	---	---	---	---	-	79685993	G	-	79685993	7	5	425	1	0	1	0	1	0	0	0	0	4558	1328	46	0	5601	0	DLG5	10	79685993	Frame_Shift_Del	DEL	G	TCGA-S9-A6U9-01A-11D-A32B-08		79685993	55848754	18	36434											
VWA2	340706	broad.mit.edu	37	chr10	116038488	116038488	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtggacacagactgcagggtCgaggctcacccctgtgagca	14	12	1	2	rs368890749		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:116038488C>G	ENST00000392982.3	+	8	961	c.711C>G	c.(709-711)gtC>gtG	p.V237V	VWA2_ENST00000603594.1_Silent_p.V237V			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	237					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)		ACTGCAGGGTCGAGGCTCACC	0.657																																						ENST00000603594.1																			0				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						c.(709-711)gtC>gtG		von Willebrand factor A domain containing 2							108	84	92					10																	116038488		2203	4300	6503	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116038488C>G	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.711C>G	10.37:g.116038488C>G						VWA2_ENST00000392982.3_Silent_p.V237V	p.V237V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	8	1032	+			237					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.711C>G																																																																																					0.657	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		17	15	0	0	0	1	0	17	15					G	116038488	C	G	116038488	2	3	425	1	0	0	0	0	0	0	0	1	17236	871	31	4		4	VWA2	10	116038488	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	36352495	116038488	19496259	19	36435											
OR5AP2	338675	broad.mit.edu	37	chr11	56409457	56409457	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacctgctaagaaggaGgtagctattagcaaaaagca	9	9	0	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:56409457G>C	ENST00000302981.1	-	1	458	c.459C>G	c.(457-459)acC>acG	p.T153T	OR5AP2_ENST00000544374.1_Silent_p.T154T	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	153						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(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTAAGAAGGAGGTAGCTATTA	0.453																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(460-462)acC>acG		olfactory receptor, family 5, subfamily AP, member 2							91	90	90					11																	56409457		2201	4296	6497	SO:0001819	synonymous_variant	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409457G>C	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.459C>G	11.37:g.56409457G>C						OR5AP2_ENST00000302981.1_Silent_p.T153T	p.T154T			Q8NGF4	O5AP2_HUMAN			1	490	-			153					B2RNM8	Silent	SNP	ENST00000302981.1	37	c.462C>G	CCDS31534.1																																																																																				0.453	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		10	33	0	0	0	1	0	10	33					C	56409457	G	C	56409457	2	2	425	1	0	0	0	0	0	0	0	1	11144	987	35	4		4	OR5AP2	11	56409457	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		56409457	78597059	20	36436											
SF3B2	10992	broad.mit.edu	37	chr11	65829467	65829467	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggctgaactcgcccatccctGaggtgagcattgtcctttcg	11	13	0	3			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:65829467G>C	ENST00000322535.6	+	16	2024	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q	SF3B2_ENST00000528302.1_Missense_Mutation_p.E642Q	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	659					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						GCCCATCCCTGAGGTGAGCAT	0.498																																						ENST00000528302.1																			0				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						c.(1924-1926)Gag>Cag		splicing factor 3b, subunit 2, 145kDa							73	58	63					11																	65829467		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65829467G>C	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.1975G>C	11.37:g.65829467G>C	ENSP00000318861:p.Glu659Gln					SF3B2_ENST00000322535.6_Missense_Mutation_p.E659Q	p.E642Q			Q13435	SF3B2_HUMAN			15	1978	+			659					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1924G>C	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644218	0.87859	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.8	5.8	0.92144	PSP, proline-rich (1);	0.101421	0.64402	D	0.000003	T	0.78515	0.4295	M	0.76574	2.34	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.78298	-0.2258	9	0.49607	T	0.09	-32.3175	17.5568	0.87892	0.0:0.0:1.0:0.0	.	659	Q13435	SF3B2_HUMAN	Q	642;659;563	.	ENSP00000318861:E659Q	E	+	1	0	SF3B2	65586043	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.245000	0.95431	2.741000	0.93983	0.650000	0.86243	GAG		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			3	7	0	0	0	1	0	3	7					C	65829467	G	C	65829467	3	2	425	1	0	0	0	0	1	0	0	0	14151	1291	45	4	2037	4	SF3B2	11	65829467	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	9420010	65829467	69177049	21	36437											
SIK2	23235	broad.mit.edu	37	chr11	111594198	111594221	+	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCCTTTGATATTACCAATTTAGGC	-													tgagaagatttaaaattcttTcctttgatattaccaattta							TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	ENST00000304987.3	+	15	2320_2322	c.2147_2149delTCCTTTGATATTACCAATTTAGGC	c.(2146-2151)atcctt>att	p.L717del		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	717					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						TAAAATTCTTTCCTTTGATATTACCAATTTAGGCTCCAGCAGAA	0.402																																						ENST00000304987.3																			0				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						c.e15-1		salt-inducible kinase 2																																				SO:0001630	splice_region_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	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.2148-1TCCTTTGATATTACCAATTTAGGC>-	11.37:g.111594198_111594221delTCCTTTGATATTACCAATTTAGGC							p.I716_splice	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2320_2322	+			716					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Splice_Site	DEL	ENST00000304987.3	37	c.2147_splice	CCDS8347.1																																																																																				0.402	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	In_Frame_Del	9	31						9	31	---	---	---	---	-	111594221	TCCTTTGATATTACCAATTTAGGC	-	111594198	8	5	425	1	0	1	0	1	0	0	1	0	14318	1798	62	0		0	SIK2	11	111594198	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCGA-S9-A6U9-01A-11D-A32B-08	45764731	111594198	23412318	22	36438											
ATN1	1822	broad.mit.edu	37	chr12	7045239	7045239	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctctggggctagtggtgCtcccccaacaaagccgccta	11	14	1	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:7045239C>G	ENST00000356654.4	+	5	1046	c.809C>G	c.(808-810)gCt>gGt	p.A270G	ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	270					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						GCTAGTGGTGCTCCCCCAACA	0.627																																						ENST00000356654.4																			0				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						c.(808-810)gCt>gGt		atrophin 1							56	48	51					12																	7045239		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045239C>G	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.809C>G	12.37:g.7045239C>G	ENSP00000349076:p.Ala270Gly					ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1046	+			270					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.809C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	2.739	-0.262695	0.05754	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.46451	0.87;0.87;0.87	3.51	2.61	0.31194	.	0.258446	0.20338	U	0.094281	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B;B	0.22276	0.004;0.067	B;B	0.18871	0.013;0.023	T	0.18335	-1.0340	10	0.18276	T	0.48	.	6.9877	0.24737	0.0:0.7162:0.0:0.2838	.	270;270	Q86V38;P54259	.;ATN1_HUMAN	G	270	ENSP00000349076:A270G;ENSP00000379915:A270G;ENSP00000441744:A270G	ENSP00000349076:A270G	A	+	2	0	ATN1	6915500	0.000000	0.05858	0.997000	0.53966	0.461000	0.32589	0.520000	0.22878	0.810000	0.34279	0.580000	0.79431	GCT		0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		9	27	0	0	0	1	0	9	27					G	7045239	C	G	7045239	3	3	425	1	0	0	0	0	1	0	0	0	1111	797	28	4	823	4	ATN1	12	7045239	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		7045239	126806656	23	36439											
STAC3	246329	broad.mit.edu	37	chr12	57642553	57642553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatggatgttggttttgCagttcttacagcgaagccca	11	8	2	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:57642553C>T	ENST00000332782.2	-	4	569	c.368G>A	c.(367-369)tGc>tAc	p.C123Y	STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	123					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GTTGGTTTTGCAGTTCTTACA	0.488																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(367-369)tGc>tAc		SH3 and cysteine rich domain 3							440	383	403					12																	57642553		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642553C>T	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.368G>A	12.37:g.57642553C>T	ENSP00000329200:p.Cys123Tyr					STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y	p.C123Y	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	569	-			123					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.368G>A	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692577	0.88735	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000553489	D;D;D	0.99876	-7.41;-7.41;-7.41	5.36	5.36	0.76844	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.93106	3.38	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.96592	0.9438	10	0.66056	D	0.02	-22.6744	18.2426	0.89973	0.0:1.0:0.0:0.0	.	123	Q96MF2	STAC3_HUMAN	Y	84;123;123	ENSP00000452068:C84Y;ENSP00000329200:C123Y;ENSP00000452299:C123Y	ENSP00000329200:C123Y	C	-	2	0	STAC3	55928820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.296000	0.78790	2.676000	0.91093	0.655000	0.94253	TGC		0.488	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		5	365	0	0	0	1	0	5	365					T	57642553	C	T	57642553	3	4	425	1	0	0	0	0	1	0	0	0	15240	710	25	2	762	2	STAC3	12	57642553	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	50597314	57642553	76209342	24	36440											
NRXN3	9369	broad.mit.edu	37	chr14	79433549	79433549	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttttcttcctAggtatatacactacgttttt	3	6	1	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:79433549A>G	ENST00000554719.1	+	10	2149		c.e10-1		NRXN3_ENST00000335750.5_Splice_Site	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						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)		TTTTCTTCCTAGGTATATACA	0.423																																						ENST00000554719.1																			0				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						c.e10-1		neurexin 3							36	34	35					14																	79433549		2203	4300	6503	SO:0001630	splice_region_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79433549A>G	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.1659-1A>G	14.37:g.79433549A>G						NRXN3_ENST00000335750.5_Splice_Site		NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	10	2149	+		Renal(4;0.00876)						A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Splice_Site	SNP	ENST00000554719.1	37		CCDS9870.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259626	0.80246	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRXN3	78503302	1.000000	0.71417	0.938000	0.37757	0.790000	0.44656	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	.		0.423	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	Intron	7	16	0	0	0	1	0	7	16					G	79433549	A	G	79433549	5	3	425	1	0	0	0	0	0	0	1	0	10667	434	15	3	1687	3	NRXN3	14	79433549	Splice_Site	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08		79433549	27915991	25	36441											
BTBD7	55727	broad.mit.edu	37	chr14	93730194	93730194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagttcataaaaaacatcCgaagtcatgacctgggaaaa	8	8	2	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:93730194C>T	ENST00000334746.5	-	4	1615	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	BTBD7_ENST00000554565.1_Silent_p.S85S|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436	BACK.				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)		AAAAAACATCCGAAGTCATGA	0.423																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1306-1308)tcG>tcA		BTB (POZ) domain containing 7							124	115	118					14																	93730194		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93730194C>T	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.1308G>A	14.37:g.93730194C>T						BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Silent_p.S85S	p.S436S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	4	1615	-		all_cancers(154;0.08)	436					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.1308G>A	CCDS32146.1																																																																																				0.423	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		19	58	0	0	0	1	0	19	58					T	93730194	C	T	93730194	2	4	425	1	0	0	0	0	0	0	0	1	1546	639	23	1		1	BTBD7	14	93730194	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	14296645	93730194	13619346	26	36442											
TP53	7157	broad.mit.edu	37	chr17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	13	12	1	0	rs121912656|rs397516437		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							151	113	126					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>A	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.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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)				TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91920	3.255	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;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	15	1	0	1.22574e-08	1	1.25887e-08	19	15					A	7577547	C	A	7577547	3	1	425	1	0	0	0	0	1	0	0	0	16378	739	26	4	556	4	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		7577547	73617663	27	36443											
MARCH10	162333	broad.mit.edu	37	chr17	60802387	60802387	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcaaggctccaggagGgggttgcttggggaaccccc	16	13	0	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:60802387G>A	ENST00000311269.5	-	7	2290	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P|MARCH10_ENST00000583600.1_Silent_p.P710P|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Silent_p.P671P|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	672					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCAGGAGGGGGTTGCTTG	0.537																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(2011-2013)ccC>ccT		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							73	80	78					17																	60802387		2203	4300	6503	SO:0001819	synonymous_variant	162333						ligase activity|zinc ion binding	g.chr17:60802387G>A	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.2016C>T	17.37:g.60802387G>A						RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Silent_p.P672P|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.P710P|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P	p.P671P			Q8NA82	MARHA_HUMAN			8	2391	-			672					D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	c.2013C>T	CCDS11635.1																																																																																				0.537	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		31	43	0	0	0	1	0	31	43					A	60802387	G	A	60802387	2	1	425	1	0	0	0	0	0	0	0	1	9299	1219	43	2		2	MARCH10	17	60802387	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	53224840	60802387	20392823	28	36444											
GATA6	2627	broad.mit.edu	37	chr18	19751274	19751274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagcggggccccggcggcGccagcaactgcgggacgcct	18	15	0	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr18:19751274G>A	ENST00000269216.3	+	2	446	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	GATA6_ENST00000581694.1_Missense_Mutation_p.A57T|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	57					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCCGGCGGCGCCAGCAACTG	0.741																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(169-171)Gcc>Acc		GATA binding protein 6							6	8	8					18																	19751274		1947	3929	5876	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751274G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.169G>A	18.37:g.19751274G>A	ENSP00000269216:p.Ala57Thr					GATA6_ENST00000581694.1_Missense_Mutation_p.A57T	p.A57T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	446	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		57					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.169G>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896953	0.52121	.	.	ENSG00000141448	ENST00000269216	D	0.98617	-5.03	3.89	3.89	0.44902	.	0.537870	0.15314	U	0.268930	D	0.94922	0.8358	N	0.24115	0.695	0.26497	N	0.974841	B	0.27117	0.168	B	0.14578	0.011	D	0.91301	0.5067	10	0.62326	D	0.03	.	6.7339	0.23399	0.1009:0.182:0.7171:0.0	.	57	Q92908	GATA6_HUMAN	T	57	ENSP00000269216:A57T	ENSP00000269216:A57T	A	+	1	0	GATA6	18005272	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	1.694000	0.37752	1.723000	0.51488	0.455000	0.32223	GCC		0.741	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		4	3	0	0	0	1	0	4	3					A	19751274	G	A	19751274	3	1	425	1	0	0	0	0	1	0	0	0	6258	1087	38	1	171	1	GATA6	18	19751274	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		19751274	58325974	29	36445											
MUC16	94025	broad.mit.edu	37	chr19	9048095	9048095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaccaatgaagttgtgGtctctggttcatcagaagaa	13	6	3	4	rs72486386	byFrequency	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:9048095G>T	ENST00000397910.4	-	5	33739	c.33536C>A	c.(33535-33537)aCc>aAc	p.T11179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	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						TGAAGTTGTGGTCTCTGGTTC	0.468																																						ENST00000397910.4																			0				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						c.(33535-33537)aCc>aAc		mucin 16, cell surface associated							65	59	61					19																	9048095		1937	4144	6081	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048095G>T	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.33536C>A	19.37:g.9048095G>T	ENSP00000381008:p.Thr11179Asn						p.T11179N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33739	-			11181			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33536C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.704	0.498532	0.12762	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.44	1.28	0.21552	.	.	.	.	.	T	0.03305	0.0096	M	0.63843	1.955	.	.	.	P	0.37101	0.582	B	0.31614	0.133	T	0.26467	-1.0102	8	0.87932	D	0	.	4.0053	0.09598	0.1247:0.0:0.6413:0.234	.	11179	B5ME49	.	N	11179	ENSP00000381008:T11179N	ENSP00000381008:T11179N	T	-	2	0	MUC16	8909095	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.264000	0.18497	0.437000	0.26423	0.556000	0.70494	ACC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	27	1	0	1	1	1	3	27					T	9048095	G	T	9048095	3	4	425	1	0	0	0	0	1	0	0	0	9973	1261	44	4	10307	4	MUC16	19	9048095	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		9048095	50080888	30	36446											
C20orf26	26074	broad.mit.edu	37	chr20	20269322	20269322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaatgatgcatgtcttGtgtatgacagtcgacttgtg	10	9	2	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:20269322G>T	ENST00000245957.5	+	23	2942	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		956										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)		TGCATGTCTTGTGTATGACAG	0.418																																						ENST00000245957.5																			0				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						c.(2866-2868)Gtg>Ttg		chromosome 20 open reading frame 26							218	203	208					20																	20269322		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269322G>T																												ENST00000245957.5:c.2866G>T	20.37:g.20269322G>T	ENSP00000245957:p.Val956Leu					C20orf26_ENST00000377309.2_Intron	p.V956L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2942	+			956					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2866G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615457	0.87359	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.40225	1.04	5.75	5.75	0.90469	.	0.149508	0.44902	D	0.000404	T	0.60051	0.2239	M	0.80183	2.485	0.80722	D	1	P	0.51537	0.946	P	0.50270	0.636	T	0.65265	-0.6210	10	0.72032	D	0.01	.	19.938	0.97149	0.0:0.0:1.0:0.0	.	956	Q8NHU2	CT026_HUMAN	L	896;922;956	ENSP00000245957:V956L	ENSP00000245957:V956L	V	+	1	0	C20orf26	20217322	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	6.017000	0.70805	2.732000	0.93576	0.650000	0.86243	GTG		0.418	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			60	106	1	0	3.13765e-25	1	3.31197e-25	60	106					T	20269322	G	T	20269322	3	4	425	1	0	0	0	0	1	0	0	0	2106	1377	48	4	2984	4	C20orf26	20	20269322	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		20269322	42756198	31	36447											
RBM12	10137	broad.mit.edu	37	chr20	34240878	34240878	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccatttccaaaattctgAgggccccctccaaatcccga	8	15	1	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:34240878A>G	ENST00000374114.3	-	3	2630	c.2367T>C	c.(2365-2367)ccT>ccC	p.P789P	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Silent_p.P789P|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000397445.1_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	789	Gly-rich.|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)			CAAAATTCTGAGGGCCCCCTC	0.572																																						ENST00000374114.3																			0				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						c.(2365-2367)ccT>ccC		RNA binding motif protein 12							30	35	33					20																	34240878		2201	4296	6497	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240878A>G	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.2367T>C	20.37:g.34240878A>G						RBM12_ENST00000359646.1_Silent_p.P789P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron	p.P789P	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2630	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		789			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2367T>C	CCDS13261.1																																																																																				0.572	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		3	34	0	0	0	1	0	3	34					G	34240878	A	G	34240878	2	3	425	1	0	0	0	0	0	0	0	1	13113	291	11	3		3	RBM12	20	34240878	Silent	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	13971556	34240878	28784642	32	36448											
TCEANC	170082	broad.mit.edu	37	chrX	13681313	13681313	+	Frame_Shift_Del	DEL	C	C	-													ttgcatcagaagcaaagttgCcaatttgaagaaccccagaa							TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:13681313delC	ENST00000380600.1	+	2	773	c.686delC	c.(685-687)gccfs	p.A229fs	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	229	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCAAAGTTGCCAATTTGAAG	0.373																																						ENST00000380600.1																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						c.(685-687)gcfs		transcription elongation factor A (SII) N-terminal and central domain containing							27	25	25					X																	13681313		1826	4074	5900	SO:0001589	frameshift_variant	170082				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:13681313delC		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.686delC	X.37:g.13681313delC	ENSP00000369974:p.Ala229fs					TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs	p.A229fs			Q8N8B7	TEANC_HUMAN			2	773	+			229			TFIIS central.		A6NI06|B2RDM3	Frame_Shift_Del	DEL	ENST00000380600.1	37	c.686delC																																																																																					0.373	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		2	4						2	4	---	---	---	---	-	13681313	C	-	13681313	7	5	425	1	0	1	0	1	0	0	0	0	15675	739	26	0	782	0	TCEANC	23	13681313	Frame_Shift_Del	DEL	C	TCGA-S9-A6U9-01A-11D-A32B-08		13681313	141589247	33	36449											
ATRX	546	broad.mit.edu	37	chrX	76909645	76909646	+	Frame_Shift_Del	DEL	TT	TT	-													cgtcgccttttctttttctgTttatagctccgctgattttc							TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:76909645_76909646delTT	ENST00000373344.5	-	14	4473_4474	c.4259_4260delAA	c.(4258-4260)aaafs	p.K1420fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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						TCTTTTTCTGTTTATAGCTCCG	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4258-4260)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909645_76909646delTT	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.4259_4260delAA	X.37:g.76909645_76909646delTT	ENSP00000362441:p.Lys1420fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs|ATRX_ENST00000480283.1_5'UTR	p.K1420fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4473_4474	-			1420					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4259_4260delAA	CCDS14434.1																																																																																				0.322	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		50	34						50	34	---	---	---	---	-	76909646	TT	-	76909645	7	5	425	1	0	1	0	1	0	0	0	0	1208	1722	60	0	3306	0	ATRX	23	76909645	Frame_Shift_Del	DEL	TT	TCGA-S9-A6U9-01A-11D-A32B-08	63228332	76909645	78360915	34	36450											
IL13RA1	3597	broad.mit.edu	37	chrX	117875042	117875042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctgcacagtaatatggAcatggaatccacccgaggga	10	11	1	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:117875042A>G	ENST00000371666.3	+	2	218	c.151A>G	c.(151-153)Aca>Gca	p.T51A	SNORA35_ENST00000458908.1_RNA|IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	51	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						AGTAATATGGACATGGAATCC	0.378																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(151-153)Aca>Gca		interleukin 13 receptor, alpha 1							120	110	113					X																	117875042		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117875042A>G	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.151A>G	X.37:g.117875042A>G	ENSP00000360730:p.Thr51Ala					IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			2	218	+			51					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.151A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483302	0.44147	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.92199	-2.69;-2.99	5.78	4.57	0.56435	.	0.078262	0.53938	D	0.000044	D	0.83505	0.5269	L	0.29908	0.895	0.80722	D	1	B;B;P	0.36837	0.354;0.354;0.571	B;B;B	0.26416	0.069;0.069;0.069	T	0.83154	-0.0102	10	0.46703	T	0.11	-16.4197	9.0011	0.36083	0.8177:0.1823:0.0:0.0	.	51;51;51	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	A	51	ENSP00000360730:T51A;ENSP00000360705:T51A	ENSP00000360705:T51A	T	+	1	0	IL13RA1	117759070	0.998000	0.40836	0.998000	0.56505	0.889000	0.51656	2.854000	0.48325	1.937000	0.56155	0.486000	0.48141	ACA		0.378	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		8	42	0	0	0	1	0	8	42					G	117875042	A	G	117875042	3	3	425	1	0	0	0	0	1	0	0	0	7629	275	10	3	157	3	IL13RA1	23	117875042	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	40965397	117875042	37395518	35	36451											
PEX10	5192	broad.mit.edu	37	chr1	2343881	2343881	+	Frame_Shift_Del	DEL	A	A	-													gctccgcagcccaccgcggtAgtactcgtccttctgcgccg							TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:2343881delA	ENST00000447513.2	-	1	129	c.61delT	c.(61-63)tacfs	p.Y21fs	PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000288774.3_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	21					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCACCGCGGTAGTACTCGTCC	0.801																																					GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(61-63)acfs		peroxisomal biogenesis factor 10							2	2	2					1																	2343881		955	2217	3172	SO:0001589	frameshift_variant	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2343881delA	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.61delT	1.37:g.2343881delA	ENSP00000407922:p.Tyr21fs					PEX10_ENST00000447513.2_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs	p.Y21fs	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	1	88	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	21					B3KWD8|Q5T095|Q9BW90	Frame_Shift_Del	DEL	ENST00000447513.2	37	c.61delT	CCDS44045.1																																																																																				0.801	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		2	4						2	4	---	---	---	---	-	2343881	A	-	2343881	7	5	426	1	0	1	0	1	0	0	0	0	11736	420	15	0	1003	0	PEX10	1	2343881	Frame_Shift_Del	DEL	A	TCGA-S9-A6UA-01A-12D-A33T-08		2343881	246906740	1	36452											
ESPN	83715	broad.mit.edu	37	chr1	6504600	6504600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggaggctaagcagccGgattcaggcatgtcctcacc	13	12	2	0	rs559886623		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:6504600G>A	ENST00000377828.1	+	6	1218	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	350					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTAAGCAGCCGGATTCAGGCA	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		21715	0.0		0.0	False		,,,				2504	0.001					ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1048-1050)ccG>ccA		espin							108	81	90					1																	6504600		2203	4300	6503	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6504600G>A	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1050G>A	1.37:g.6504600G>A						RP1-202O8.2_ENST00000419034.1_RNA	p.P350P	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	6	1218	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	350					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.1050G>A	CCDS70.1																																																																																				0.612	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		21	79	0	0	0	1	0	21	79					A	6504600	G	A	6504600	2	1	426	1	0	0	0	0	0	0	0	1	5254	1103	39	1		1	ESPN	1	6504600	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	4160719	6504600	242746021	2	36453											
WASF2	10163	broad.mit.edu	37	chr1	27736491	27736491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagggtggtggaggcgtcCctggagacccaaatcctaca	15	10	0	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27736491C>T	ENST00000430629.2	-	8	1249	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	345					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)		TGGAGGCGTCCCTGGAGACCC	0.627																																						ENST00000430629.2																			0				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						c.(1033-1035)gGg>gAg		WAS protein family, member 2							100	107	105					1																	27736491		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736491C>T	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.1034G>A	1.37:g.27736491C>T	ENSP00000396211:p.Gly345Glu					WASF2_ENST00000536657.1_Intron	p.G345E	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		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)	8	1249	-		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)	345					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.1034G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	5.740	0.320980	0.10845	.	.	ENSG00000158195	ENST00000430629	T	0.47177	0.85	4.58	-1.23	0.09465	.	1.292960	0.05122	N	0.490950	T	0.27384	0.0672	L	0.29908	0.895	0.28496	N	0.914242	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	10	0.02654	T	1	-0.3945	3.2353	0.06762	0.1326:0.3267:0.388:0.1527	.	345	Q9Y6W5	WASF2_HUMAN	E	345	ENSP00000396211:G345E	ENSP00000396211:G345E	G	-	2	0	WASF2	27609078	0.041000	0.20044	0.989000	0.46669	0.992000	0.81027	0.070000	0.14573	-0.202000	0.10268	0.551000	0.68910	GGG		0.627	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		22	150	0	0	0	1	0	22	150					T	27736491	C	T	27736491	3	4	426	1	0	0	0	0	1	0	0	0	17250	623	22	2	470	2	WASF2	1	27736491	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	21231891	27736491	221514130	3	36454											
AHDC1	27245	broad.mit.edu	37	chr1	27877444	27877444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtccggctttccgccggcGacacaggatctttggcctat	11	15	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27877444G>A	ENST00000247087.5	-	5	1779	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	AHDC1_ENST00000374011.2_Missense_Mutation_p.R395C			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	395	Pro-rich.						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)		TTCCGCCGGCGACACAGGATC	0.716																																						ENST00000374011.2																			0				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						c.(1183-1185)Cgc>Tgc		AT hook, DNA binding motif, containing 1							8	9	8					1																	27877444		2096	4070	6166	SO:0001583	missense	27245						DNA binding	g.chr1:27877444G>A	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.1183C>T	1.37:g.27877444G>A	ENSP00000247087:p.Arg395Cys					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.R395C	p.R395C	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		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)	6	2151	-		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)	395			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1183C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287561	0.80803	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.52057	0.68;0.68	5.64	5.64	0.86602	.	0.191804	0.25517	U	0.030130	T	0.46639	0.1403	N	0.14661	0.345	0.52099	D	0.999942	D	0.76494	0.999	P	0.54924	0.764	T	0.51926	-0.8643	10	0.66056	D	0.02	-12.3767	16.6135	0.84900	0.0:0.0:1.0:0.0	.	395	Q5TGY3	AHDC1_HUMAN	C	395	ENSP00000247087:R395C;ENSP00000363123:R395C	ENSP00000247087:R395C	R	-	1	0	AHDC1	27750031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.663000	0.90544	0.579000	0.79373	CGC		0.716	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	35	0	0	0	1	0	5	35					A	27877444	G	A	27877444	3	1	426	1	0	0	0	0	1	0	0	0	412	1058	37	1	3632	1	AHDC1	1	27877444	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	140953	27877444	221373177	4	36455											
KIAA0754	643314	broad.mit.edu	37	chr1	39878107	39878107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggtgaggcaaaagagCtggattatcaagccacactt	12	7	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:39878107C>T	ENST00000530275.1	+	1	1957	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	588										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)			GGCAAAAGAGCTGGATTATCA	0.448																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1762-1764)Ctg>Ttg		KIAA0754							98	96	97					1																	39878107		1928	4140	6068	SO:0001819	synonymous_variant	643314							g.chr1:39878107C>T			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.1762C>T	1.37:g.39878107C>T						MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	p.L588L	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	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)		1	1957	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	588					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.1762C>T																																																																																					0.448	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		20	68	0	0	0	1	0	20	68					T	39878107	C	T	39878107	2	4	426	1	0	0	0	0	0	0	0	1	8192	796	28	2		2	KIAA0754	1	39878107	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	12000663	39878107	209372514	5	36456											
LRRC7	57554	broad.mit.edu	37	chr1	70493911	70493911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaggatttaaagaatatgGtaaaatctgttcaaaatttg	8	3	2	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:70493911G>C	ENST00000035383.5	+	16	1768	c.1738G>C	c.(1738-1740)Gta>Cta	p.V580L	LRRC7_ENST00000310961.5_Missense_Mutation_p.V585L|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	580						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGAATATGGTAAAATCTGT	0.338																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1753-1755)Gta>Cta		leucine rich repeat containing 7							82	86	84					1																	70493911		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70493911G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1738G>C	1.37:g.70493911G>C	ENSP00000035383:p.Val580Leu					LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.V580L	p.V585L			Q96NW7	LRRC7_HUMAN			19	2171	+			580					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1753G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914878	0.92178	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.10860	2.83;2.83	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.01767	-1.1278	10	0.48119	T	0.1	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	580	Q96NW7	LRRC7_HUMAN	L	585;580;403	ENSP00000309245:V585L;ENSP00000035383:V580L	ENSP00000035383:V580L	V	+	1	0	LRRC7	70266499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.812000	0.96745	0.557000	0.71058	GTA		0.338	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		53	153	0	0	0	1	0	53	153					C	70493911	G	C	70493911	3	2	426	1	0	0	0	0	1	0	0	0	9020	1261	44	4	1800	4	LRRC7	1	70493911	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	30615804	70493911	178756710	6	36457											
SCYL3	57147	broad.mit.edu	37	chr1	169828224	169828224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagtaaaacttggggcagTgcgtttgaagatcttggttc	12	5	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:169828224T>G	ENST00000367770.1	-	10	1317	c.1270A>C	c.(1270-1272)Act>Cct	p.T424P	SCYL3_ENST00000367772.4_Missense_Mutation_p.T424P|SCYL3_ENST00000470238.1_5'Flank|SCYL3_ENST00000367771.6_Missense_Mutation_p.T424P|RN7SL333P_ENST00000476398.2_RNA			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	424					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGGGGCAGTGCGTTTGAAG	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1270-1272)Act>Cct		SCY1-like 3 (S. cerevisiae)							145	141	142					1																	169828224		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169828224T>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1270A>C	1.37:g.169828224T>G	ENSP00000356744:p.Thr424Pro					SCYL3_ENST00000367770.1_Missense_Mutation_p.T424P|SCYL3_ENST00000367771.5_Missense_Mutation_p.T424P	p.T424P	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			11	1467	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		424					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.1270A>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862327	0.71949	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.77	5.77	0.91146	.	0.045874	0.85682	D	0.000000	T	0.36744	0.0978	M	0.71581	2.175	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.987;0.996	D;D;D	0.80764	0.994;0.917;0.927	T	0.20009	-1.0288	10	0.36615	T	0.2	-21.1924	10.7842	0.46395	0.1768:0.0:0.0:0.8232	.	70;424;424	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	P	424	ENSP00000356746:T424P;ENSP00000356745:T424P;ENSP00000356744:T424P;ENSP00000407993:T424P	ENSP00000356744:T424P	T	-	1	0	SCYL3	168094848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.087000	0.71362	2.197000	0.70478	0.455000	0.32223	ACT		0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		86	156	0	0	0	1	0	86	156					G	169828224	T	G	169828224	3	3	426	1	0	0	0	0	1	0	0	0	13949	1696	59	5	974	5	SCYL3	1	169828224	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	99334313	169828224	79422397	7	36458											
RAB10	10890	broad.mit.edu	37	chr2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggggaagacctgcgtccTttttcgtttttcggatgatg	13	7	0	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(76-78)cTt>cCt		RAB10, member RAS oncogene family							148	134	139					2																	26257554		2203	4300	6503	SO:0001583	missense	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26257554T>C	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.77T>C	2.37:g.26257554T>C	ENSP00000264710:p.Leu26Pro						p.L26P	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			1	576	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		26					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	c.77T>C	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284629	0.80803	.	.	ENSG00000084733	ENST00000264710	T	0.80909	-1.43	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95208	0.8323	10	0.87932	D	0	.	13.0672	0.59041	0.0:0.0:0.0:1.0	.	26	P61026	RAB10_HUMAN	P	26	ENSP00000264710:L26P	ENSP00000264710:L26P	L	+	2	0	RAB10	26111058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.971000	0.57363	0.533000	0.62120	CTT		0.537	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		5	354	0	0	0	1	0	5	354					C	26257554	T	C	26257554	3	2	426	1	0	0	0	0	1	0	0	0	12890	1609	56	3	79	3	RAB10	2	26257554	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		26257554	216941819	8	36459											
SLC30A3	7781	broad.mit.edu	37	chr2	27479686	27479686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcgaagaacgtctcggaGggtgggagcggtggatccaa	17	7	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:27479686G>A	ENST00000233535.4	-	6	1205	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	285					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)					ACGTCTCGGAGGGTGGGAGCG	0.587																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(853-855)Ctc>Ttc		solute carrier family 30 (zinc transporter), member 3							86	93	91					2																	27479686		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479686G>A	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.853C>T	2.37:g.27479686G>A	ENSP00000233535:p.Leu285Phe					SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	p.L285F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			6	1205	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		285					Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.853C>T	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201278	0.79015	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351	T;T;T	0.67865	-0.29;-0.29;-0.29	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	M	0.77313	2.365	0.80722	D	1	D;D	0.71674	0.964;0.998	P;D	0.79108	0.749;0.992	D	0.84180	0.0439	10	0.87932	D	0	-24.4226	16.9157	0.86150	0.0:0.0:1.0:0.0	.	280;285	F5H3B7;Q99726	.;ZNT3_HUMAN	F	285;280;222;236	ENSP00000233535:L285F;ENSP00000415226:L280F;ENSP00000414320:L236F	ENSP00000233535:L285F	L	-	1	0	SLC30A3	27333190	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	3.835000	0.55805	2.663000	0.90544	0.555000	0.69702	CTC		0.587	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			14	78	0	0	0	1	0	14	78					A	27479686	G	A	27479686	3	1	426	1	0	0	0	0	1	0	0	0	14556	1000	35	2	325	2	SLC30A3	2	27479686	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	1222132	27479686	215719687	9	36460											
SPATS2L	26010	broad.mit.edu	37	chr2	201284007	201284007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaagtccaagcagcAtcaaggcaacaaagatgcta	9	9	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:201284007A>G	ENST00000358677.5	+	6	480	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000409988.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R	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	78						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						TCCAAGCAGCATCAAGGCAAC	0.448																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(232-234)cAt>cGt		spermatogenesis associated, serine-rich 2-like							30	32	32					2																	201284007		1893	4114	6007	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201284007A>G	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.233A>G	2.37:g.201284007A>G	ENSP00000351503:p.His78Arg					SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R|SPATS2L_ENST00000358677.4_Missense_Mutation_p.H78R	p.H78R	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			6	756	+			78					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.233A>G	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000763	0.54254	.	.	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	0.000007	T	0.67785	0.2930	L	0.40543	1.245	0.46044	D	0.998833	D;D;D	0.76494	0.997;0.999;0.987	D;D;D	0.80764	0.994;0.994;0.979	T	0.68334	-0.5436	9	0.49607	T	0.09	-18.8418	14.4025	0.67056	1.0:0.0:0.0:0.0	.	108;78;78	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	R	78;78;78;78;18;78;78;78;78;78;78;78;78;108;86;78;78;73	.	ENSP00000351503:H78R	H	+	2	0	SPATS2L	200992252	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.328000	0.65887	2.275000	0.75901	0.528000	0.53228	CAT		0.448	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		7	18	0	0	0	1	0	7	18					G	201284007	A	G	201284007	3	3	426	1	0	0	0	0	1	0	0	0	15019	217	8	3	247	3	SPATS2L	2	201284007	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	173804321	201284007	41915366	10	36461											
CCDC108	255101	broad.mit.edu	37	chr2	219895995	219895995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcatctggaatgggctgGagaactcccaggtgaagaag	15	8	1	3	rs368823962		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:219895995G>A	ENST00000341552.5	-	8	931	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	283						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)		GAATGGGCTGGAGAACTCCCA	0.652																																						ENST00000341552.5																			0				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						c.(847-849)tCc>tTc		coiled-coil domain containing 108							23	27	26					2																	219895995		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219895995G>A	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.848C>T	2.37:g.219895995G>A	ENSP00000340776:p.Ser283Phe					CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F	p.S283F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	931	-		Renal(207;0.0915)	283					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.848C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114295	0.77210	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.08193	3.42;3.42;3.42;3.12;3.13	5.37	5.37	0.77165	PapD-like (1);	0.549063	0.15274	N	0.271064	T	0.14442	0.0349	N	0.19112	0.55	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.56700	0.804;0.804	T	0.07347	-1.0777	10	0.59425	D	0.04	-8.4299	17.2845	0.87137	0.0:0.0:1.0:0.0	.	272;283	E9PG25;Q6ZU64	.;CC108_HUMAN	F	283;283;283;272;218;217	ENSP00000340776:S283F;ENSP00000413377:S283F;ENSP00000409117:S283F;ENSP00000386945:S272F;ENSP00000386258:S218F	ENSP00000340776:S283F	S	-	2	0	CCDC108	219604239	0.992000	0.36948	0.258000	0.24420	0.758000	0.43043	7.155000	0.77445	2.517000	0.84864	0.650000	0.86243	TCC		0.652	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	36	0	0	0	1	0	4	36					A	219895995	G	A	219895995	3	1	426	1	0	0	0	0	1	0	0	0	2743	1174	41	2	5041	2	CCDC108	2	219895995	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	18611988	219895995	23303378	11	36462											
IGSF11	152404	broad.mit.edu	37	chr3	118621746	118621746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttagtgtgttgttgtccGaggaggaaatctcagtgtga	15	4	1	1	rs117543039	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:118621746G>A	ENST00000393775.2	-	7	1222	c.917C>T	c.(916-918)tCg>tTg	p.S306L	IGSF11_ENST00000425327.2_Missense_Mutation_p.S305L|IGSF11_ENST00000491903.1_Missense_Mutation_p.S278L|IGSF11_ENST00000354673.2_Missense_Mutation_p.S305L|IGSF11_ENST00000489689.1_Missense_Mutation_p.S282L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S281L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	306					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						GTTGTTGTCCGAGGAGGAAAT	0.423													G|||	3	0.000599042	0.0008	0.0	5008	,	,		22716	0.002		0.0	False		,,,				2504	0.0					ENST00000354673.2																			0				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						c.(913-915)tCg>tTg		immunoglobulin superfamily, member 11		G	LEU/SER,LEU/SER	2,4404	2.1+/-5.4	0,2,2201	115	120	118		917,914	5.4	1	3	dbSNP_132	118	0,8600		0,0,4300	yes	missense,missense	IGSF11	NM_001015887.1,NM_152538.2	145,145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	306/432,305/431	118621746	2,13004	2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621746G>A	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.917C>T	3.37:g.118621746G>A	ENSP00000377370:p.Ser306Leu					IGSF11_ENST00000489689.1_Missense_Mutation_p.S282L|IGSF11_ENST00000425327.2_Missense_Mutation_p.S305L|IGSF11_ENST00000441144.2_Missense_Mutation_p.S281L|IGSF11_ENST00000393775.2_Missense_Mutation_p.S306L|IGSF11_ENST00000491903.1_Missense_Mutation_p.S278L	p.S305L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1294	-			306					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.914C>T	CCDS46891.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	28.7	4.946352	0.92593	4.54E-4	0.0	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;D;D;T;D;D	0.87103	-1.31;-1.51;-2.21;-1.31;-2.16;-2.21	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89357	0.6692	N	0.21373	0.66	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	0.85130	0.992;0.997;0.997;0.992;0.992	D	0.89868	0.4021	10	0.52906	T	0.07	.	18.2816	0.90099	0.0:0.0:1.0:0.0	.	278;281;305;282;306	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	L	305;306;282;305;281;278	ENSP00000406092:S305L;ENSP00000377370:S306L;ENSP00000420486:S282L;ENSP00000346700:S305L;ENSP00000401240:S281L;ENSP00000417413:S278L	ENSP00000346700:S305L	S	-	2	0	IGSF11	120104436	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	9.150000	0.94667	2.804000	0.96469	0.655000	0.94253	TCG		0.423	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			5	217	0	0	0	1	0	5	217					A	118621746	G	A	118621746	3	1	426	1	0	0	0	0	1	0	0	0	7598	1059	37	1	382	1	IGSF11	3	118621746	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		118621746	79400684	12	36463											
SEC61A1	29927	broad.mit.edu	37	chr3	127783859	127783859	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgccaccatctttgtcttTgcagtggtcatctatttcca	6	12	4	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:127783859T>C	ENST00000243253.3	+	8	940	c.756T>C	c.(754-756)ttT>ttC	p.F252F	RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.F258F|SEC61A1_ENST00000424880.2_Silent_p.F132F|SEC61A1_ENST00000483956.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	252					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTTTGTCTTTGCAGTGGTCA	0.532																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(754-756)ttT>ttC		Sec61 alpha 1 subunit (S. cerevisiae)							158	153	155					3																	127783859		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127783859T>C	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.756T>C	3.37:g.127783859T>C						SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.F258F|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000424880.2_Silent_p.F132F	p.F252F	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			8	940	+			252					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.756T>C	CCDS3046.1																																																																																				0.532	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		88	228	0	0	0	1	0	88	228					C	127783859	T	C	127783859	2	2	426	1	0	0	0	0	0	0	0	1	14000	1809	63	3		3	SEC61A1	3	127783859	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	9162113	127783859	70238571	13	36464											
C3orf21	152002	broad.mit.edu	37	chr3	194790640	194790640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaagaagtcctggtccCcgaggtggccgcggaagtgg	18	9	0	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:194790640C>T	ENST00000310380.6	-	4	1094	c.986G>A	c.(985-987)gGg>gAg	p.G329E	XXYLT1_ENST00000356740.5_Missense_Mutation_p.G123E|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G183E|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G126E|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G126E|XXYLT1_ENST00000460582.1_5'UTR	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	329						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GTCCTGGTCCCCGAGGTGGCC	0.652																																						ENST00000310380.6																			0											c.(985-987)gGg>gAg		xyloside xylosyltransferase 1							59	65	63					3																	194790640		2071	4199	6270	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790640C>T	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.986G>A	3.37:g.194790640C>T	ENSP00000309640:p.Gly329Glu					XXYLT1_ENST00000356740.5_Missense_Mutation_p.G123E|XXYLT1_ENST00000355729.4_Missense_Mutation_p.G126E|XXYLT1_ENST00000429994.1_Missense_Mutation_p.G183E|XXYLT1_ENST00000437101.1_Missense_Mutation_p.G126E|XXYLT1_ENST00000460582.1_5'UTR	p.G329E	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	1094	-			329					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.986G>A	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396294	0.96009	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740;ENST00000458652	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.88640	2.97	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	0.66276	-0.5964	10	0.87932	D	0	-18.1205	19.2443	0.93896	0.0:1.0:0.0:0.0	.	329;126;123	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	E	329;126;126;183;123;125	ENSP00000309640:G329E;ENSP00000409865:G126E;ENSP00000347967:G126E;ENSP00000399422:G183E;ENSP00000349179:G123E	ENSP00000309640:G329E	G	-	2	0	C3orf21	196271929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.797000	0.96272	0.563000	0.77884	GGG		0.652	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		31	91	0	0	0	1	0	31	91					T	194790640	C	T	194790640	3	4	426	1	0	0	0	0	1	0	0	0	2214	623	22	2	199	2	C3orf21	3	194790640	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	67006781	194790640	3231790	14	36465											
ZCCHC4	29063	broad.mit.edu	37	chr4	25315728	25315728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaactcggaggttttatgCctgttcagcctgtagagata	11	7	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr4:25315728C>T	ENST00000302874.4	+	2	212	c.188C>T	c.(187-189)gCc>gTc	p.A63V	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	63							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AGGTTTTATGCCTGTTCAGCC	0.333																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(187-189)gCc>gTc		zinc finger, CCHC domain containing 4							165	158	160					4																	25315728		1790	4072	5862	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25315728C>T	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.188C>T	4.37:g.25315728C>T	ENSP00000303468:p.Ala63Val					ZCCHC4_ENST00000505451.1_3'UTR	p.A63V	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			2	212	+		Breast(46;0.0503)	63					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.188C>T	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142183	0.94560	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.23552	1.9	5.77	5.77	0.91146	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.44711	-0.9310	10	0.46703	T	0.11	1.9674	18.7722	0.91896	0.0:1.0:0.0:0.0	.	63	Q9H5U6	ZCHC4_HUMAN	V	63;39	ENSP00000303468:A63V	ENSP00000303468:A63V	A	+	2	0	ZCCHC4	24924826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.898000	0.75676	2.726000	0.93360	0.650000	0.86243	GCC		0.333	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			5	343	0	0	0	1	0	5	343					T	25315728	C	T	25315728	3	4	426	1	0	0	0	0	1	0	0	0	17587	739	26	2	194	2	ZCCHC4	4	25315728	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		25315728	165838548	15	36466											
SLC30A5	64924	broad.mit.edu	37	chr5	68412039	68412039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctatattcttcatttTgtgtaagcattccccccttt	6	10	2	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:68412039T>C	ENST00000396591.3	+	9	1680	c.1070T>C	c.(1069-1071)tTg>tCg	p.L357S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	357					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTCATTTTGTGTAAGCAT	0.393																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1069-1071)tTg>tCg		solute carrier family 30 (zinc transporter), member 5							88	92	91					5																	68412039		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68412039T>C	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1070T>C	5.37:g.68412039T>C	ENSP00000379836:p.Leu357Ser					CTC-498J12.3_ENST00000504129.1_RNA	p.L357S	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	9	1680	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	357					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1070T>C	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154837	0.78114	.	.	ENSG00000145740	ENST00000396591	T	0.69561	-0.41	5.38	5.38	0.77491	.	0.052623	0.85682	D	0.000000	T	0.75295	0.3830	L	0.61218	1.895	0.80722	D	1	P;D;P	0.63880	0.651;0.993;0.93	B;P;B	0.55391	0.273;0.775;0.383	T	0.78585	-0.2147	10	0.72032	D	0.01	.	15.329	0.74190	0.0:0.0:0.0:1.0	.	186;186;357	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	S	357	ENSP00000379836:L357S	ENSP00000379836:L357S	L	+	2	0	SLC30A5	68447795	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.164000	0.68074	0.477000	0.44152	TTG		0.393	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			20	60	0	0	0	1	0	20	60					C	68412039	T	C	68412039	3	2	426	1	0	0	0	0	1	0	0	0	14558	1821	63	3	1192	3	SLC30A5	5	68412039	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		68412039	112503221	16	36467											
ERAP2	64167	broad.mit.edu	37	chr5	96232446	96232446	+	Frame_Shift_Del	DEL	T	T	-													ttttttaaagggagcttgtaTtttgaatatgctcaaggatt							TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:96232446delT	ENST00000437043.3	+	9	2093	c.1382delT	c.(1381-1383)attfs	p.I461fs	ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	461					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)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAGCTTGTATTTTGAATATG	0.303																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1381-1383)atfs		endoplasmic reticulum aminopeptidase 2							48	55	53					5																	96232446		2191	4296	6487	SO:0001589	frameshift_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96232446delT	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1382delT	5.37:g.96232446delT	ENSP00000400376:p.Ile461fs					CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs	p.I461fs	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	9	2093	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	461					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Frame_Shift_Del	DEL	ENST00000437043.3	37	c.1382delT	CCDS4086.1																																																																																				0.303	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		50	191						50	191	---	---	---	---	-	96232446	T	-	96232446	7	5	426	1	0	1	0	1	0	0	0	0	5204	1493	52	0	1412	0	ERAP2	5	96232446	Frame_Shift_Del	DEL	T	TCGA-S9-A6UA-01A-12D-A33T-08	27820407	96232446	84682814	17	36468											
PCDHB11	56125	broad.mit.edu	37	chr5	140579893	140579894	+	Frame_Shift_Del	DEL	GA	GA	-													tctcattttcacattaaaatGagagtcattccagacaatag					rs375833006		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:140579893_140579894delGA	ENST00000354757.3	+	1	546_547	c.546_547delGA	c.(544-549)atgagafs	p.R183fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	183	Cadherin 2. {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)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTAAAATGAGAGTCATTCC	0.431																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(544-549)atgafs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579893_140579894delGA	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.546_547delGA	5.37:g.140579895_140579896delGA	ENSP00000346802:p.Arg183fs					PCDHB11_ENST00000536699.1_Intron	p.MR182fs	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	546_547	+			182			Cadherin 2.		B4DSF7|Q2M223	Frame_Shift_Del	DEL	ENST00000354757.3	37	c.546_547delGA	CCDS4253.1																																																																																				0.431	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		66	160						66	160	---	---	---	---	-	140579894	GA	-	140579893	7	5	426	1	0	1	0	1	0	0	0	0	11536	1290	45	0	548	0	PCDHB11	5	140579893	Frame_Shift_Del	DEL	GA	TCGA-S9-A6UA-01A-12D-A33T-08	44347447	140579893	40335367	18	36469											
PSMB1	5689	broad.mit.edu	37	chr6	170852781	170852781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcattgcagcaattgccCccgtagtcatggccttatta	8	12	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr6:170852781C>T	ENST00000262193.6	-	4	439	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	114					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)	AGCAATTGCCCCCGTAGTCAT	0.403																																						ENST00000262193.6																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(340-342)gGg>gAg		proteasome (prosome, macropain) subunit, beta type, 1	Bortezomib(DB00188)						146	127	134					6																	170852781		2203	4300	6503	SO:0001583	missense	5689				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170852781C>T	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.341G>A	6.37:g.170852781C>T	ENSP00000262193:p.Gly114Glu					PSMB1_ENST00000462957.1_5'UTR	p.G114E	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	4	439	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	114					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.341G>A	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080475	0.36662	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.18960	2.18	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	N	0.11131	0.1	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.16630	-1.0396	10	0.13108	T	0.6	-20.7073	18.8678	0.92300	0.0:1.0:0.0:0.0	.	114	P20618	PSB1_HUMAN	E	114;119	ENSP00000262193:G114E	ENSP00000262193:G114E	G	-	2	0	PSMB1	170694706	1.000000	0.71417	0.941000	0.38009	0.996000	0.88848	7.002000	0.76304	2.532000	0.85374	0.650000	0.86243	GGG		0.403	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		48	178	0	0	0	1	0	48	178					T	170852781	C	T	170852781	3	4	426	1	0	0	0	0	1	0	0	0	12674	623	22	2	396	2	PSMB1	6	170852781	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		170852781	262286	19	36470											
TXNDC3	51314	broad.mit.edu	37	chr7	37907473	37907473	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgaagcccaggttacacCtggaatgatgaagaacaaac	11	9	0	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:37907473C>G	ENST00000199447.4	+	11	1163	c.791C>G	c.(790-792)cCt>cGt	p.P264R	NME8_ENST00000440017.1_Missense_Mutation_p.P264R|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	264					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)										CAGGTTACACCTGGAATGATG	0.458																																						ENST00000199447.4																			0											c.(790-792)cCt>cGt		NME/NM23 family member 8							86	71	76					7																	37907473		2203	4300	6503	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37907473C>G	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.791C>G	7.37:g.37907473C>G	ENSP00000199447:p.Pro264Arg					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P264R	p.P264R	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			11	1163	+			264					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.791C>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872142	0.17322	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.35236	1.32;1.32	4.11	0.286	0.15710	.	1.839300	0.02663	N	0.107693	T	0.26159	0.0638	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15723	-1.0427	10	0.42905	T	0.14	1.8675	2.9415	0.05831	0.1964:0.4849:0.0:0.3187	.	264	Q8N427	TXND3_HUMAN	R	264	ENSP00000199447:P264R;ENSP00000397063:P264R	ENSP00000199447:P264R	P	+	2	0	TXNDC3	37873998	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.045000	0.14013	0.039000	0.15632	0.563000	0.77884	CCT		0.458	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		20	71	0	0	0	1	0	20	71					G	37907473	C	G	37907473	3	3	426	1	0	0	0	0	1	0	0	0	16795	681	24	4	825	4	TXNDC3	7	37907473	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		37907473	121231190	20	36471											
GIMAP7	168537	broad.mit.edu	37	chr7	150217542	150217542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcatcgtcaaggagtgCgggaaccgctgctgtgcctt	13	10	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:150217542C>T	ENST00000313543.4	+	2	637	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	160	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGGAGTGCGGGAACCGCT	0.502																																						ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(478-480)tgC>tgT		GTPase, IMAP family member 7							70	60	64					7																	150217542		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217542C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.480C>T	7.37:g.150217542C>T							p.C160C	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	637	+			160						Silent	SNP	ENST00000313543.4	37	c.480C>T	CCDS5903.1																																																																																				0.502	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		4	95	0	0	0	1	0	4	95					T	150217542	C	T	150217542	2	4	426	1	0	0	0	0	0	0	0	1	6384	776	27	1		1	GIMAP7	7	150217542	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	112310069	150217542	8921121	21	36472											
INTS10	55174	broad.mit.edu	37	chr8	19694646	19694646	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatcccaggaggaaccctcGaaagtaaagcccaaatttag	8	10	0	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr8:19694646G>A	ENST00000397977.3	+	13	2012	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					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)		AGGAACCCTCGAAAGTAAAGC	0.403																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1612-1614)tcG>tcA		integrator complex subunit 10							111	107	108					8																	19694646		1854	4098	5952	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19694646G>A	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.1614G>A	8.37:g.19694646G>A							p.S538S	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	13	2012	+			538					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1614G>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.593|3.593	-0.083242|-0.083242	0.07141|0.07141	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000518799|ENST00000520670	.|.	.|.	.|.	5.27|5.27	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|T	0.48732|0.48732	0.1516|0.1516	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61038|0.61038	-0.7143|-0.7143	4|4	.|.	.|.	.|.	-1.3785|-1.3785	10.9598|10.9598	0.47379|0.47379	0.1275:0.6679:0.0687:0.1359|0.1275:0.6679:0.0687:0.1359	.|.	.|.	.|.	.|.	K|Q	121|28	.|.	.|.	E|R	+|+	1|2	0|0	INTS10|INTS10	19738926|19738926	0.023000|0.023000	0.18921|0.18921	0.513000|0.513000	0.27749|0.27749	0.299000|0.299000	0.27559|0.27559	-0.504000|-0.504000	0.06375|0.06375	-1.106000|-1.106000	0.03008|0.03008	-1.235000|-1.235000	0.01560|0.01560	GAA|CGA		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		4	108	0	0	0	1	0	4	108					A	19694646	G	A	19694646	2	1	426	1	0	0	0	0	0	0	0	1	7776	1045	37	1		1	INTS10	8	19694646	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		19694646	126669376	22	36473											
C9orf156	51531	broad.mit.edu	37	chr9	100667129	100667129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaccagcaagtgacatgCgctatgtctacagtaaagta	8	10	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:100667129C>T	ENST00000375119.3	-	5	1288	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	404					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAGTGACATGCGCTATGTCTA	0.552																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(1210-1212)gcG>gcA		chromosome 9 open reading frame 156							105	98	100					9																	100667129		2203	4300	6503	SO:0001819	synonymous_variant	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100667129C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1212G>A	9.37:g.100667129C>T							p.A404A	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			5	1288	-		Acute lymphoblastic leukemia(62;0.158)	404					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Silent	SNP	ENST00000375119.3	37	c.1212G>A	CCDS6730.1																																																																																				0.552	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		4	164	0	0	0	1	0	4	164					T	100667129	C	T	100667129	2	4	426	1	0	0	0	0	0	0	0	1	2465	755	27	1		1	C9orf156	9	100667129	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		100667129	40546302	23	36474											
COL15A1	1306	broad.mit.edu	37	chr9	101765779	101765779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgaggtgcccatcagCactgctggagaagcagaggc	15	12	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:101765779C>T	ENST00000375001.3	+	8	1533	c.1110C>T	c.(1108-1110)agC>agT	p.S370S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	370	4 X tandem repeats.|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)				TGCCCATCAGCACTGCTGGAG	0.577																																						ENST00000375001.3																			0				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						c.(1108-1110)agC>agT		collagen, type XV, alpha 1							75	80	78					9																	101765779		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101765779C>T	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.1110C>T	9.37:g.101765779C>T							p.S370S	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			8	1533	+		Acute lymphoblastic leukemia(62;0.0562)	370			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.1110C>T	CCDS35081.1																																																																																				0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		23	175	0	0	0	1	0	23	175					T	101765779	C	T	101765779	2	4	426	1	0	0	0	0	0	0	0	1	3672	709	25	2		2	COL15A1	9	101765779	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	1098650	101765779	39447652	24	36475											
MPP7	143098	broad.mit.edu	37	chr10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttatcttttctactaagaCgaaaactttttctaaaacca	2	9	4	1	rs145943944	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:28378749C>T	ENST00000375732.1	-	12	1233	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000337532.5_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					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						TCTACTAAGACGAAAACTTTT	0.313																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(973-975)cGt>cAt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	126	107	114		974	5.8	1	10	dbSNP_134	114	0,8600		0,0,4300	yes	missense	MPP7	NM_173496.3	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	325/577	28378749	3,13003	2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28378749C>T	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.974G>A	10.37:g.28378749C>T	ENSP00000364884:p.Arg325His					MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H	p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			13	1250	-			325					B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.974G>A	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096882	0.94197	6.81E-4	0.0	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82711	-1.64;-1.64;-1.64;-1.64;1.43;-1.64	5.79	5.79	0.91817	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.88337	0.2972	10	0.30078	T	0.28	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	325	Q5T2T1	MPP7_HUMAN	H	325;325;325;325;86;200	ENSP00000364884:R325H;ENSP00000337907:R325H;ENSP00000438693:R325H;ENSP00000364871:R325H;ENSP00000398319:R86H;ENSP00000405397:R200H	ENSP00000337907:R325H	R	-	2	0	MPP7	28418755	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.726000	0.93360	0.655000	0.94253	CGT		0.313	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		15	119	0	0	0	1	0	15	119					T	28378749	C	T	28378749	3	4	426	1	0	0	0	0	1	0	0	0	9739	536	19	1	780	1	MPP7	10	28378749	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		28378749	107155998	25	36476											
CDH23	64072	broad.mit.edu	37	chr10	73565576	73565576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaggagatcccgctgcGctccaacgtgtacgaggtct	11	15	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:73565576G>A	ENST00000224721.6	+	55	7906	c.7901G>A	c.(7900-7902)cGc>cAc	p.R2634H	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2629	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCCCGCTGCGCTCCAACGTG	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7900-7902)cGc>cAc		cadherin-related 23							28	30	30					10																	73565576		2091	4205	6296	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73565576G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7901G>A	10.37:g.73565576G>A	ENSP00000224721:p.Arg2634His					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	p.R2634H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			55	7906	+			2629			Cadherin 25.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7901G>A		.	.	.	.	.	.	.	.	.	.	G	12.93	2.085681	0.36758	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60920	0.15	5.94	3.06	0.35304	Cadherin (3);Cadherin-like (1);	0.278858	0.36303	N	0.002662	T	0.34600	0.0903	N	0.13098	0.295	0.27829	N	0.941539	B;B	0.12630	0.001;0.006	B;B	0.08055	0.003;0.003	T	0.15521	-1.0434	10	0.29301	T	0.29	.	6.8067	0.23782	0.2012:0.1268:0.672:0.0	.	2629;2629	E9PEX1;Q9H251	.;CAD23_HUMAN	H	2634;2629;2632;389	ENSP00000381768:R389H	ENSP00000224721:R2634H	R	+	2	0	CDH23	73235582	0.457000	0.25752	0.997000	0.53966	0.494000	0.33585	0.899000	0.28417	0.393000	0.25203	-0.252000	0.11476	CGC		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		10	30	0	0	0	1	0	10	30					A	73565576	G	A	73565576	3	1	426	1	0	0	0	0	1	0	0	0	3108	1087	38	1	8449	1	CDH23	10	73565576	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	45186827	73565576	61969171	26	36477											
USP54	159195	broad.mit.edu	37	chr10	75331188	75331188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtacttaccttgagagcGcaaaagatgcaggaatctcc	10	9	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77	USP.				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)					CCTTGAGAGCGCAAAAGATGC	0.433																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(229-231)tgC>tgT		ubiquitin specific peptidase 54							120	108	112					10																	75331188		1901	4133	6034	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75331188G>A	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.231C>T	10.37:g.75331188G>A						USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C	p.C77C			Q70EL1	UBP54_HUMAN			3	331	-	Prostate(51;0.0112)		77					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.231C>T	CCDS7329.2																																																																																				0.433	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		4	147	0	0	0	1	0	4	147					A	75331188	G	A	75331188	2	1	426	1	0	0	0	0	0	0	0	1	17082	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	1765612	75331188	60203559	27	36478											
CHST15	51363	broad.mit.edu	37	chr10	125805699	125805699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcgccgtcgggtaacagCtgtatgcagcaattaatgca	12	9	0	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:125805699C>T	ENST00000346248.5	-	2	672	c.30G>A	c.(28-30)caG>caA	p.Q10Q	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Silent_p.Q10Q|CHST15_ENST00000435907.1_Silent_p.Q10Q	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	10					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGGTAACAGCTGTATGCAGC	0.607																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(28-30)caG>caA		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							46	46	46					10																	125805699		2202	4298	6500	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805699C>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.30G>A	10.37:g.125805699C>T						CHST15_ENST00000435907.1_Silent_p.Q10Q|CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Silent_p.Q10Q	p.Q10Q	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	672	-			10					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.30G>A	CCDS7638.1																																																																																				0.607	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		8	124	0	0	0	1	0	8	124					T	125805699	C	T	125805699	2	4	426	1	0	0	0	0	0	0	0	1	3403	796	28	2		2	CHST15	10	125805699	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	50474511	125805699	9729048	28	36479											
MKI67	4288	broad.mit.edu	37	chr10	129902953	129902953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgtgtccatggctttgCctgctgatggtgttcgtttc	13	8	0	1	rs577377467		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:129902953C>T	ENST00000368654.3	-	13	7526	c.7151G>A	c.(7150-7152)gGc>gAc	p.G2384D	MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2384	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)				CATGGCTTTGCCTGCTGATGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		21289	0.0		0.0	False		,,,				2504	0.001					ENST00000368654.3																			0				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						c.(7150-7152)gGc>gAc		marker of proliferation Ki-67							324	320	321					10																	129902953		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902953C>T	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.7151G>A	10.37:g.129902953C>T	ENSP00000357643:p.Gly2384Asp					MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	p.G2384D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7526	-		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)	2384			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7151G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	2.986	-0.209345	0.06140	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04194	3.68;3.68	2.77	-2.48	0.06423	.	1.085990	0.07217	N	0.860159	T	0.09379	0.0231	L	0.52126	1.63	0.09310	N	1	B;D;D	0.89917	0.184;1.0;0.997	B;D;D	0.79108	0.057;0.992;0.939	T	0.33420	-0.9869	10	0.11794	T	0.64	.	0.3287	0.00315	0.2531:0.1646:0.1957:0.3865	.	2383;2024;2384	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	2384;2024;2383	ENSP00000357643:G2384D;ENSP00000357642:G2024D	ENSP00000357642:G2024D	G	-	2	0	MKI67	129792943	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.987000	0.00659	-0.610000	0.05716	0.462000	0.41574	GGC		0.458	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		47	690	0	0	0	1	0	47	690					T	129902953	C	T	129902953	3	4	426	1	0	0	0	0	1	0	0	0	9598	739	26	2	2631	2	MKI67	10	129902953	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	4097254	129902953	5631794	29	36480											
MUC6	4588	broad.mit.edu	37	chr11	1023958	1023958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcacggcagaaggccGgggtcctccagtccacgcac	12	16	2	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:1023958G>A	ENST00000421673.2	-	25	3421	c.3371C>T	c.(3370-3372)cCg>cTg	p.P1124L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1124					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGAAGGCCGGGGTCCTCCA	0.687																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3370-3372)cCg>cTg		mucin 6, oligomeric mucus/gel-forming							27	38	34					11																	1023958		2178	4271	6449	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1023958G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3371C>T	11.37:g.1023958G>A	ENSP00000406861:p.Pro1124Leu						p.P1124L	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	25	3421	-		all_cancers(49;3.3e-08)|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;0.229)	1124					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3371C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754076	0.49362	.	.	ENSG00000184956	ENST00000421673	T	0.77229	-1.08	4.37	4.37	0.52481	Uncharacterised domain, cysteine-rich (2);	0.272151	0.18640	U	0.135335	D	0.90590	0.7050	M	0.91249	3.19	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.92882	0.6324	10	0.87932	D	0	.	17.2742	0.87110	0.0:0.0:1.0:0.0	.	1124	Q6W4X9	MUC6_HUMAN	L	1124	ENSP00000406861:P1124L	ENSP00000406861:P1124L	P	-	2	0	MUC6	1013958	1.000000	0.71417	0.912000	0.35992	0.084000	0.17831	9.569000	0.98170	2.143000	0.66587	0.542000	0.68232	CCG		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		3	51	0	0	0	1	0	3	51					A	1023958	G	A	1023958	3	1	426	1	0	0	0	0	1	0	0	0	9980	1116	39	1	3984	1	MUC6	11	1023958	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		1023958	133982558	30	36481											
ZNF143	7702	broad.mit.edu	37	chr11	9534059	9534059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtgtagaaggggacgaCgttgtttctacacaagtagc	13	7	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:9534059C>T	ENST00000396602.2	+	13	1559	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000530463.1_Silent_p.D479D|ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000396604.1_Silent_p.D479D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	480					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D480D(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAGGGGACGACGTTGTTTCTA	0.418																																						ENST00000396602.2																			1	Substitution - coding silent(1)	p.D480D(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1438-1440)gaC>gaT		zinc finger protein 143							170	147	155					11																	9534059		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9534059C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1440C>T	11.37:g.9534059C>T						ZNF143_ENST00000396604.1_Silent_p.D479D|ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000530463.1_Silent_p.D479D	p.D480D	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	13	1559	+			480					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.1440C>T	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	5.736	0.320271	0.10845	.	.	ENSG00000166478	ENST00000447186	.	.	.	5.49	-0.831	0.10789	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52449	-0.8574	4	.	.	.	.	10.9429	0.47283	0.0:0.4422:0.0:0.5578	.	.	.	.	C	6	.	.	R	+	1	0	ZNF143	9490635	0.984000	0.35163	0.983000	0.44433	0.636000	0.38137	0.024000	0.13555	-0.318000	0.08665	-0.367000	0.07326	CGT		0.418	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		38	244	0	0	0	1	0	38	244					T	9534059	C	T	9534059	2	4	426	1	0	0	0	0	0	0	0	1	17729	535	19	1		1	ZNF143	11	9534059	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	8510101	9534059	125472457	31	36482											
FOLR1	2348	broad.mit.edu	37	chr11	71906440	71906440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcacctgcctgcaaacgGcatttcatccaggacacctg	9	14	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:71906440G>A	ENST00000393679.1	+	3	730	c.294G>A	c.(292-294)cgG>cgA	p.R98R	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.R98R|FOLR1_ENST00000312293.4_Silent_p.R98R|FOLR1_ENST00000393676.3_Silent_p.R98R			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	98					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CCTGCAAACGGCATTTCATCC	0.542																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(292-294)cgG>cgA		folate receptor 1 (adult)							171	167	168					11																	71906440		2200	4293	6493	SO:0001819	synonymous_variant	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906440G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.294G>A	11.37:g.71906440G>A						FOLR1_ENST00000393681.2_Silent_p.R98R|FOLR1_ENST00000393676.3_Silent_p.R98R|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Silent_p.R98R	p.R98R			P15328	FOLR1_HUMAN			3	730	+			98					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	ENST00000393679.1	37	c.294G>A	CCDS8211.1																																																																																				0.542	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		5	492	0	0	0	1	0	5	492					A	71906440	G	A	71906440	2	1	426	1	0	0	0	0	0	0	0	1	5981	1190	42	2		2	FOLR1	11	71906440	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	62372381	71906440	63100076	32	36483											
ABCG4	64137	broad.mit.edu	37	chr11	119031673	119031673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaggaacgctgcccgttcCgggagccacagagcatcctc	12	14	0	2	rs200842214		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:119031673C>T	ENST00000449422.2	+	15	1986	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	ABCG4_ENST00000307417.3_Missense_Mutation_p.R600W|ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	600	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	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)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		CTGCCCGTTCCGGGAGCCACA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21097	0.001		0.0	False		,,,				2504	0.0					ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1798-1800)Cgg>Tgg		ATP-binding cassette, sub-family G (WHITE), member 4							100	88	92					11																	119031673		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031673C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1798C>T	11.37:g.119031673C>T	ENSP00000406874:p.Arg600Trp					ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W|ABCG4_ENST00000449422.2_Missense_Mutation_p.R600W	p.R600W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	15	2162	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	600			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1798C>T	CCDS8415.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.145320	0.77888	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.57595	0.39;0.39;0.39	5.55	5.55	0.83447	.	0.166280	0.53938	D	0.000042	T	0.53965	0.1829	M	0.78637	2.42	0.44555	D	0.997515	P	0.52170	0.951	B	0.38712	0.28	T	0.65417	-0.6173	10	0.87932	D	0	-3.2974	15.1559	0.72743	0.1417:0.8583:0.0:0.0	.	600	Q9H172	ABCG4_HUMAN	W	600	ENSP00000304111:R600W;ENSP00000406874:R600W;ENSP00000434318:R600W	ENSP00000304111:R600W	R	+	1	2	ABCG4	118536883	1.000000	0.71417	0.942000	0.38095	0.714000	0.41099	3.945000	0.56637	2.621000	0.88768	0.655000	0.94253	CGG		0.572	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		6	63	0	0	0	1	0	6	63					T	119031673	C	T	119031673	3	4	426	1	0	0	0	0	1	0	0	0	70	643	23	1	1852	1	ABCG4	11	119031673	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	47125233	119031673	15974843	33	36484											
C1RL	51279	broad.mit.edu	37	chr12	7261741	7261741	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cctttggagtgagggcttctCcagagatatttcccccacac	9	13	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:7261741C>G	ENST00000266542.4	-	1	128	c.36G>C	c.(34-36)tgG>tgC	p.W12C	C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	12					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGGCTTCTCCAGAGATATT	0.602											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(34-36)tgG>tgC		complement component 1, r subcomponent-like							46	37	40					12																	7261741		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7261741C>G	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.36G>C	12.37:g.7261741C>G	ENSP00000266542:p.Trp12Cys		OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	C1RL-AS1_ENST00000435921.2_RNA|C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000536679.1_RNA|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C	p.W12C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			1	128	-			12					Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.36G>C	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	7.686	0.689956	0.15039	.	.	ENSG00000139178	ENST00000545280;ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	D;T;T;T	0.87412	-2.25;1.41;1.85;1.56	3.67	3.67	0.42095	.	0.170301	0.28784	N	0.014154	D	0.87985	0.6316	L	0.29908	0.895	0.49687	D	0.99981	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76575	0.988;0.951;0.894	D	0.87188	0.2232	10	0.48119	T	0.1	.	11.2576	0.49063	0.0:1.0:0.0:0.0	.	12;12;12	F5GWF3;F5H7C8;Q9NZP8	.;.;C1RL_HUMAN	C	12	ENSP00000266542:W12C;ENSP00000441885:W12C;ENSP00000437398:W12C;ENSP00000442611:W12C	ENSP00000266542:W12C	W	-	3	0	C1RL	7153017	0.428000	0.25522	0.941000	0.38009	0.052000	0.14988	0.876000	0.28092	2.358000	0.79984	0.386000	0.25728	TGG		0.602	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		8	17	0	0	0	1	0	8	17					G	7261741	C	G	7261741	3	3	426	1	0	0	0	0	1	0	0	0	1973	856	30	4	1451	4	C1RL	12	7261741	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		7261741	126590154	34	36485											
SLCO1A2	6579	broad.mit.edu	37	chr12	21453315	21453315	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatttttccttcttgacctCttctttttgtttgtcttcat	3	9	5	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:21453315C>G	ENST00000307378.6	-	9	1597	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	293					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTCTTGACCTCTTCTTTTTGT	0.299																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(877-879)Gag>Cag		solute carrier organic anion transporter family, member 1A2							94	96	96					12																	21453315		2202	4300	6502	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453315C>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.877G>C	12.37:g.21453315C>G	ENSP00000305974:p.Glu293Gln					SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q	p.E293Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			9	1597	-			293					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.877G>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	5.010	0.187543	0.09547	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.42	0.377	0.16198	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.474300	0.01153	N	0.006475	T	0.30759	0.0775	L	0.31526	0.94	0.09310	N	1	B;B;B	0.17038	0.02;0.016;0.001	B;B;B	0.21151	0.033;0.031;0.016	T	0.08722	-1.0708	10	0.18710	T	0.47	.	5.1128	0.14819	0.0:0.4899:0.1388:0.3713	.	273;291;293	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	Q	293;293;161;161;291	ENSP00000305974:E293Q;ENSP00000393973:E293Q;ENSP00000394854:E161Q;ENSP00000439401:E161Q;ENSP00000375088:E291Q	ENSP00000305974:E293Q	E	-	1	0	SLCO1A2	21344582	0.026000	0.19158	0.000000	0.03702	0.091000	0.18340	0.724000	0.25954	0.057000	0.16193	0.462000	0.41574	GAG		0.299	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		4	60	0	0	0	1	0	4	60					G	21453315	C	G	21453315	3	3	426	1	0	0	0	0	1	0	0	0	14722	922	32	4	1167	4	SLCO1A2	12	21453315	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	14191574	21453315	112398580	35	36486											
WIBG	84305	broad.mit.edu	37	chr12	56297190	56297190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgggacctcctcctgggGcacatatccttctttcaccc	7	17	2	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:56297190G>A	ENST00000408946.2	-	2	263	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCCTCCTGGGGCACATATCCT	0.493																																						ENST00000408946.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(112-114)Ccc>Tcc		within bgcn homolog (Drosophila)							96	98	97					12																	56297190		1952	4146	6098	SO:0001583	missense	84305				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding	g.chr12:56297190G>A	BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.112C>T	12.37:g.56297190G>A	ENSP00000386156:p.Pro38Ser					WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S|WIBG_ENST00000547925.1_3'UTR	p.P38S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN			2	263	-			38					B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	c.112C>T	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198232	0.94997	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.61859	0.07;0.07	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.82635	-0.0360	10	0.59425	D	0.04	.	17.9932	0.89175	0.0:0.0:1.0:0.0	.	38;37	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	S	38;37	ENSP00000386156:P38S;ENSP00000381271:P37S	ENSP00000381271:P37S	P	-	1	0	WIBG	54583457	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.118000	0.94355	2.633000	0.89246	0.650000	0.86243	CCC		0.493	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345		12	151	0	0	0	1	0	12	151					A	56297190	G	A	56297190	3	1	426	1	0	0	0	0	1	0	0	0	17362	1203	42	2	510	2	WIBG	12	56297190	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	34843875	56297190	77554705	36	36487											
KERA	11081	broad.mit.edu	37	chr12	91449700	91449700	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagaagagcaacttcttcAgctggcttagggctcctttt	9	9	2	2	rs145871038		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:91449700A>G	ENST00000266719.3	-	2	606	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	120					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAACTTCTTCAGCTGGCTTAG	0.383																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(358-360)cTg>cCg		keratocan		A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	131	125	127		359	6.1	1	12	dbSNP_134	127	0,8598		0,0,4299	no	missense	KERA	NM_007035.3	98	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	120/353	91449700	1,13003	2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449700A>G	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.359T>C	12.37:g.91449700A>G	ENSP00000266719:p.Leu120Pro						p.L120P	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	606	-			120						Missense_Mutation	SNP	ENST00000266719.3	37	c.359T>C	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932153	0.73442	2.27E-4	0.0	ENSG00000139330	ENST00000266719	T	0.72167	-0.63	6.08	6.08	0.98989	.	0.050781	0.85682	D	0.000000	D	0.89143	0.6631	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92148	0.5726	10	0.87932	D	0	-11.6843	16.6438	0.85155	1.0:0.0:0.0:0.0	.	120	O60938	KERA_HUMAN	P	120	ENSP00000266719:L120P	ENSP00000266719:L120P	L	-	2	0	KERA	89973831	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	CTG		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		69	266	0	0	0	1	0	69	266					G	91449700	A	G	91449700	3	3	426	1	0	0	0	0	1	0	0	0	8143	188	7	3	707	3	KERA	12	91449700	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	35152510	91449700	42402195	37	36488											
GNPTAB	79158	broad.mit.edu	37	chr12	102158081	102158081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtaacacttcagtaaCgcctatgtgattttcagcat	6	10	2	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:102158081C>T	ENST00000299314.7	-	13	2876	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	872					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						ACTTCAGTAACGCCTATGTGA	0.383																																						ENST00000299314.7																			0				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						c.(2614-2616)Gtt>Att		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							328	317	321					12																	102158081		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158081C>T	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.2614G>A	12.37:g.102158081C>T	ENSP00000299314:p.Val872Ile						p.V872I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2876	-			872					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2614G>A	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318830	0.23994	.	.	ENSG00000111670	ENST00000299314	D	0.96136	-3.92	5.51	0.994	0.19832	.	0.734852	0.12695	N	0.446887	D	0.91050	0.7184	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80393	-0.1401	10	0.28530	T	0.3	-0.6606	6.5723	0.22545	0.0:0.5073:0.2642:0.2284	.	872	Q3T906	GNPTA_HUMAN	I	872	ENSP00000299314:V872I	ENSP00000299314:V872I	V	-	1	0	GNPTAB	100682212	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.596000	0.05720	0.274000	0.22072	0.655000	0.94253	GTT		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			33	688	0	0	0	1	0	33	688					T	102158081	C	T	102158081	3	4	426	1	0	0	0	0	1	0	0	0	6545	536	19	1	1192	1	GNPTAB	12	102158081	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	10708381	102158081	31693814	38	36489											
XPO4	64328	broad.mit.edu	37	chr13	21361632	21361632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttaccttaagaaagtgCcgtgttgctagaaaaagtgg	10	7	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:21361632C>T	ENST00000255305.6	-	21	3224	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000400602.2_Silent_p.R1051R			Q9C0E2	XPO4_HUMAN	exportin 4	1051					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(3151-3153)cgG>cgA		exportin 4							124	123	123					13																	21361632		1920	4139	6059	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21361632C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3153G>A	13.37:g.21361632C>T						XPO4_ENST00000255305.6_Silent_p.R1051R	p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	21	3188	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1051					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.3153G>A	CCDS41872.1																																																																																				0.458	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		5	159	0	0	0	1	0	5	159					T	21361632	C	T	21361632	2	4	426	1	0	0	0	0	0	0	0	1	17443	726	26	2		2	XPO4	13	21361632	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		21361632	93808246	39	36490											
RCBTB2	1102	broad.mit.edu	37	chr13	49075985	49075985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagtgactcagccacTgtgaggtggtcatcaggttc	11	11	5	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:49075985T>C	ENST00000344532.3	-	12	1560	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	RCBTB2_ENST00000544492.1_Silent_p.T105T|RCBTB2_ENST00000430805.2_Silent_p.T384T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	379					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCAGCCACTGTGAGGTGGT	0.438																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1135-1137)acA>acG		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							83	72	76					13																	49075985		2203	4300	6503	SO:0001819	synonymous_variant	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49075985T>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1137A>G	13.37:g.49075985T>C						RCBTB2_ENST00000430805.2_Silent_p.T384T|RCBTB2_ENST00000544492.1_Silent_p.T105T	p.T379T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	12	1560	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	379					B2RDW8	Silent	SNP	ENST00000344532.3	37	c.1137A>G	CCDS9411.1																																																																																				0.438	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		11	58	0	0	0	1	0	11	58					C	49075985	T	C	49075985	2	2	426	1	0	0	0	0	0	0	0	1	13172	1567	55	3		3	RCBTB2	13	49075985	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	27714353	49075985	66093893	40	36491											
TDRD9	122402	broad.mit.edu	37	chr14	104492043	104492043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacttggtctgtctggcacCttttgctgattttgataaac	9	8	2	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:104492043C>T	ENST00000409874.4	+	26	2909	c.2861C>T	c.(2860-2862)cCt>cTt	p.P954L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	954	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTCTGGCACCTTTTGCTGAT	0.438																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2860-2862)cCt>cTt		tudor domain containing 9							193	208	203					14																	104492043		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104492043C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2861C>T	14.37:g.104492043C>T	ENSP00000387303:p.Pro954Leu					TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			26	2909	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	954			Tudor.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2861C>T	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027991	0.75390	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.06933	3.24;3.24	4.99	4.99	0.66335	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000015	T	0.21962	0.0529	L	0.46157	1.445	0.80722	D	1	P;D	0.54207	0.907;0.965	P;P	0.61940	0.514;0.896	T	0.00374	-1.1780	10	0.48119	T	0.1	.	18.2969	0.90150	0.0:1.0:0.0:0.0	.	954;954	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	L	954	ENSP00000387303:P954L;ENSP00000343545:P954L	ENSP00000343545:P954L	P	+	2	0	TDRD9	103561796	1.000000	0.71417	0.983000	0.44433	0.910000	0.53928	5.099000	0.64554	2.310000	0.77875	0.557000	0.71058	CCT		0.438	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		33	447	0	0	0	1	0	33	447					T	104492043	C	T	104492043	3	4	426	1	0	0	0	0	1	0	0	0	15733	681	24	2	2963	2	TDRD9	14	104492043	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		104492043	2857497	41	36492											
RHBDF1	64285	broad.mit.edu	37	chr16	113631	113631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtagagtgggggtggcGtctcggtgctggtcagcgac	18	10	2	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:113631G>A	ENST00000262316.6	-	4	558	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	139					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGGGGGTGGCGTCTCGGTGCT	0.667																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(415-417)aCg>aTg		rhomboid 5 homolog 1 (Drosophila)							82	74	77					16																	113631		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:113631G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.416C>T	16.37:g.113631G>A	ENSP00000262316:p.Thr139Met					RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			4	558	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	139					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.416C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	32	5.186478	0.94885	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545	T;T;T	0.69040	-0.37;-0.37;-0.37	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.973	T	0.81961	-0.0693	10	0.72032	D	0.01	-22.6101	18.4277	0.90614	0.0:0.0:1.0:0.0	.	139;162;139	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	M	139;139;175;139;175	ENSP00000262316:T139M;ENSP00000392133:T139M;ENSP00000408915:T139M	ENSP00000262316:T139M	T	-	2	0	RHBDF1	53631	1.000000	0.71417	0.969000	0.41365	0.876000	0.50452	9.787000	0.99055	2.600000	0.87896	0.563000	0.77884	ACG		0.667	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		33	92	0	0	0	1	0	33	92					A	113631	G	A	113631	3	1	426	1	0	0	0	0	1	0	0	0	13319	1145	40	1	2211	1	RHBDF1	16	113631	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		113631	90241122	42	36493											
CLDN6	9074	broad.mit.edu	37	chr16	3065626	3065626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccagcacacggggattaGcgtcaggacccctgagatga	13	12	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:3065626G>A	ENST00000396925.1	-	3	825	c.397C>T	c.(397-399)Cta>Tta	p.L133L	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.L133L|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	133					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACGGGGATTAGCGTCAGGACC	0.607																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(397-399)Cta>Tta		claudin 6							30	31	31					16																	3065626		2198	4298	6496	SO:0001819	synonymous_variant	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065626G>A	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.397C>T	16.37:g.3065626G>A						CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.L133L	p.L133L			P56747	CLD6_HUMAN			3	825	-			133					B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	c.397C>T	CCDS10488.1																																																																																				0.607	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		10	72	0	0	0	1	0	10	72					A	3065626	G	A	3065626	2	1	426	1	0	0	0	0	0	0	0	1	3489	962	34	2		2	CLDN6	16	3065626	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	2951995	3065626	87289127	43	36494											
ZNF646	9726	broad.mit.edu	37	chr16	31090150	31090150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttcccccatgccactggCctgctgagccacaggccctg	9	18	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:31090150C>T	ENST00000394979.2	+	1	2928	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	ZNF646_ENST00000300850.5_Silent_p.G835G			O15015	ZN646_HUMAN	zinc finger protein 646	835					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						ATGCCACTGGCCTGCTGAGCC	0.622																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2503-2505)ggC>ggT		zinc finger protein 646							84	89	87					16																	31090150		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090150C>T	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.2505C>T	16.37:g.31090150C>T						ZNF646_ENST00000300850.5_Silent_p.G835G	p.G835G			O15015	ZN646_HUMAN			1	2928	+			835					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.2505C>T																																																																																					0.622	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		52	160	0	0	0	1	0	52	160					T	31090150	C	T	31090150	2	4	426	1	0	0	0	0	0	0	0	1	18059	726	26	2		2	ZNF646	16	31090150	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	28024524	31090150	59264603	44	36495											
SIAH1	6477	broad.mit.edu	37	chr16	48395776	48395776	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctctaagactaacatgaaGtgaaagccaaaacaggactg	8	8	1	3	rs183087746	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:48395776G>C	ENST00000380006.2	-	1	2017	c.564C>G	c.(562-564)caC>caG	p.H188Q	SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	188	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTAACATGAAGTGAAAGCCAA	0.423																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(562-564)caC>caG		siah E3 ubiquitin protein ligase 1							144	129	134					16																	48395776		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395776G>C	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.564C>G	16.37:g.48395776G>C	ENSP00000369343:p.His188Gln					SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q|SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q	p.H188Q			Q8IUQ4	SIAH1_HUMAN			1	2017	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	188			SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.564C>G	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447574	0.26074	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.32515	1.45;1.45	5.2	3.23	0.37069	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.27419	0.0673	M	0.64404	1.975	0.80722	D	1	B;B	0.33120	0.2;0.398	B;B	0.29862	0.105;0.108	T	0.04811	-1.0925	10	0.46703	T	0.11	-5.3769	7.9602	0.30066	0.3464:0.0:0.6536:0.0	.	188;219	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	Q	219;188;204	ENSP00000349156:H219Q;ENSP00000378214:H188Q	ENSP00000349156:H219Q	H	-	3	2	SIAH1	46953277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.211000	0.42825	0.683000	0.31428	0.655000	0.94253	CAC		0.423	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			19	198	0	0	0	1	0	19	198					C	48395776	G	C	48395776	3	2	426	1	0	0	0	0	1	0	0	0	14299	1020	36	4	288	4	SIAH1	16	48395776	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	17305626	48395776	41958977	45	36496											
CHD9	80205	broad.mit.edu	37	chr16	53279712	53279712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatgtacctaacttggtcaAtaccatgatggagctcagga	9	8	2	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:53279712A>G	ENST00000398510.3	+	14	3491	c.3404A>G	c.(3403-3405)aAt>aGt	p.N1135S	CHD9_ENST00000566029.1_Missense_Mutation_p.N1135S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1135					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)				AACTTGGTCAATACCATGATG	0.313																																						ENST00000566029.1																			0				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						c.(3403-3405)aAt>aGt		chromodomain helicase DNA binding protein 9							55	54	54					16																	53279712		1829	4083	5912	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53279712A>G	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.3404A>G	16.37:g.53279712A>G	ENSP00000381522:p.Asn1135Ser					CHD9_ENST00000398510.3_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S	p.N1135S			Q3L8U1	CHD9_HUMAN			15	3613	+		all_cancers(37;0.0212)	1135					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.3404A>G		.	.	.	.	.	.	.	.	.	.	A	25.5	4.648319	0.87958	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.75589	-0.95;-0.95	5.95	5.95	0.96441	SNF2-related (1);	0.000000	0.64402	D	0.000010	D	0.84347	0.5452	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.85130	0.997;0.997;0.996;0.994	D	0.85733	0.1332	10	0.87932	D	0	-22.9634	16.4237	0.83790	1.0:0.0:0.0:0.0	.	661;1135;1135;1135	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1135;1135;661	ENSP00000396345:N1135S;ENSP00000381522:N1135S	ENSP00000219084:N661S	N	+	2	0	CHD9	51837213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.279000	0.76181	0.533000	0.62120	AAT		0.313	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		17	91	0	0	0	1	0	17	91					G	53279712	A	G	53279712	3	3	426	1	0	0	0	0	1	0	0	0	3332	101	4	3	3458	3	CHD9	16	53279712	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	4883936	53279712	37075041	46	36497											
RABEP1	9135	broad.mit.edu	37	chr17	5264854	5264854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggcgatgacaccagaaCaagaagagacagcgtccctc	10	12	1	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:5264854C>A	ENST00000546142.2	+	9	1634	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	RABEP1_ENST00000262477.6_Missense_Mutation_p.Q483K|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|NUP88_ENST00000573169.1_5'UTR			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					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						GACACCAGAACAAGAAGAGAC	0.478																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1447-1449)Caa>Aaa		rabaptin, RAB GTPase binding effector protein 1							125	128	127					17																	5264854		2120	4218	6338	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264854C>A	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.1447C>A	17.37:g.5264854C>A	ENSP00000437701:p.Gln483Lys					RABEP1_ENST00000546142.2_Missense_Mutation_p.Q483K|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K	p.Q483K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			9	1671	+			483					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.1447C>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864530	0.91511	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.53206	0.64;0.67;0.64;0.67;0.63	5.54	5.54	0.83059	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	L	0.52573	1.65	0.80722	D	1	P;B;P;P;B	0.42941	0.592;0.432;0.794;0.698;0.379	B;B;P;P;P	0.48952	0.187;0.159;0.596;0.451;0.491	T	0.37502	-0.9703	10	0.05833	T	0.94	-15.2066	18.8588	0.92264	0.0:1.0:0.0:0.0	.	440;440;476;483;483	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	K	483;483;476;483;483;440	ENSP00000262477:Q483K;ENSP00000386150:Q483K;ENSP00000437701:Q483K;ENSP00000339569:Q483K;ENSP00000445408:Q440K	ENSP00000262477:Q483K	Q	+	1	0	RABEP1	5205578	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.686000	0.84128	2.779000	0.95612	0.655000	0.94253	CAA		0.478	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		41	75	1	0	1.57019e-19	1	1.65284e-19	41	75					A	5264854	C	A	5264854	3	1	426	1	0	0	0	0	1	0	0	0	12961	479	17	4	1481	4	RABEP1	17	5264854	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		5264854	75930356	47	36498											
PER1	5187	broad.mit.edu	37	chr17	8047182	8047182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcttgggggtgcggggCcgtggtggcagcctgtgggg	25	8	0	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:8047182C>A	ENST00000317276.4	-	19	2711	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	825					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						GGGTGCGGGGCCGTGGTGGCA	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				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						c.(2473-2475)gGc>gTc	Other conserved DNA damage response genes	period circadian clock 1							35	44	41					17																	8047182		2203	4299	6502	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047182C>A	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.2474G>T	17.37:g.8047182C>A	ENSP00000314420:p.Gly825Val					PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	p.G825V	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			19	2711	-			825					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.2474G>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289911	0.40494	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.24	5.24	0.73138	.	0.220524	0.38837	N	0.001553	T	0.13286	0.0322	L	0.43152	1.355	0.80722	D	1	B	0.32968	0.392	B	0.32624	0.149	T	0.04041	-1.0982	10	0.40728	T	0.16	-10.4552	12.0932	0.53739	0.0:0.8264:0.1736:0.0	.	825	O15534	PER1_HUMAN	V	825	ENSP00000314420:G825V	ENSP00000314420:G825V	G	-	2	0	PER1	7987907	0.984000	0.35163	0.878000	0.34440	0.365000	0.29674	2.339000	0.43965	2.450000	0.82876	0.563000	0.77884	GGC		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			30	95	1	0	1.57351e-24	1	1.67842e-24	30	95					A	8047182	C	A	8047182	3	1	426	1	0	0	0	0	1	0	0	0	11729	739	26	4	1418	4	PER1	17	8047182	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	2782328	8047182	73148028	48	36499											
NF1	4763	broad.mit.edu	37	chr17	29527570	29527571	+	Frame_Shift_Ins	INS	-	-	T													atcaattgggaagataactcINStgtcattttcctacttgttc							TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29527570_29527571insT	ENST00000358273.4	+	9	1402_1403	c.1019_1020insT	c.(1018-1023)tctgtcfs	p.V341fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.V341fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.V341fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	341					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.?(6)	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)		GAAGATAACTCTGTCATTTTCC	0.381			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	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	GRCh37	CD972347|CI086448	NF1	D|I		c.(1018-1020)tgtfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527570_29527571insT		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.1020dupT	17.37:g.29527571_29527571dupT	ENSP00000351015:p.Val341fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Ins_p.C340fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.C340fs	p.C340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	9	1402_1403	+		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)	340					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.1019_1020insT	CCDS42292.1																																																																																				0.381	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		66	160						66	160	---	---	---	---	T	29527571	-	T	29527570	7	5	426	1	0	1	1	0	0	0	0	0	10356	913	32	0	1053	0	NF1	17	29527570	Frame_Shift_Ins	INS	-	TCGA-S9-A6UA-01A-12D-A33T-08	21480388	29527570	51667640	49	36500											
NF1	4763	broad.mit.edu	37	chr17	29684022	29684022	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacagcacccacatttacgtAaagtttcagtgtctgaatca	6	10	3	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29684022A>T	ENST00000358273.4	+	53	8166	c.7783A>T	c.(7783-7785)Aaa>Taa	p.K2595*	NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					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.?(3)|p.K2595E(2)|p.K2595fs*5(1)	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)		ACATTTACGTAAAGTTTCAGT	0.418			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	soft_tissue(8)|kidney(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(7783-7785)Aaa>Taa		neurofibromin 1							198	188	191					17																	29684022		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684022A>T		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.7783A>T	17.37:g.29684022A>T	ENSP00000351015:p.Lys2595*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*	p.K2595*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	53	8166	+		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)	2595					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7783A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	37	6.093351	0.97276	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.87	5.87	0.94306	.	0.104881	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	X	2595;2574;2240;388	.	ENSP00000348498:K2574X	K	+	1	0	NF1	26708148	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.398000	0.90195	2.371000	0.80710	0.533000	0.62120	AAA		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		92	350	0	0	0	1	0	92	350					T	29684022	A	T	29684022	4	4	426	1	0	0	0	0	0	1	0	0	10356	363	13	5	8054	5	NF1	17	29684022	Nonsense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	156452	29684022	51511188	50	36501											
ABCC3	8714	broad.mit.edu	37	chr17	48735563	48735563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttctccgcaaagaatgtcGaccctgtgagtttcccatgg	9	11	1	2	rs376037553		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:48735563G>A	ENST00000285238.8	+	5	687	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	203					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)	AAAGAATGTCGACCCTGTGAG	0.567																																						ENST00000285238.8																			0				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						c.(607-609)Gac>Aac		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	131	121	124		607,607	3	0	17		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCC3	NM_001144070.1,NM_003786.3	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	203/573,203/1528	48735563	1,13005	2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48735563G>A	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.607G>A	17.37:g.48735563G>A	ENSP00000285238:p.Asp203Asn					ABCC3_ENST00000427699.1_Missense_Mutation_p.D203N	p.D203N	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		5	687	+			203					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.607G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945137	0.53079	0.0	1.16E-4	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.87029	-2.2;-2.2	6.04	3.02	0.34903	.	0.119196	0.53938	D	0.000045	T	0.80819	0.4696	L	0.52011	1.625	0.47094	D	0.999317	B;B	0.27286	0.166;0.174	B;B	0.26202	0.026;0.067	T	0.72207	-0.4360	10	0.19147	T	0.46	-28.019	9.4014	0.38435	0.2199:0.0:0.7801:0.0	.	203;203	O15438;O15438-5	MRP3_HUMAN;.	N	203	ENSP00000395160:D203N;ENSP00000285238:D203N	ENSP00000285238:D203N	D	+	1	0	ABCC3	46090562	1.000000	0.71417	0.034000	0.17996	0.106000	0.19336	4.136000	0.58004	0.903000	0.36546	0.561000	0.74099	GAC		0.567	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	226	0	0	0	1	0	5	226					A	48735563	G	A	48735563	3	1	426	1	0	0	0	0	1	0	0	0	54	1058	37	1	625	1	ABCC3	17	48735563	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	19051541	48735563	32459647	51	36502											
TOM1L1	10040	broad.mit.edu	37	chr17	52993145	52993145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaattggatatggtgaaaatGaatgtgcgagtgatgtccgc	14	4	0	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:52993145G>A	ENST00000575882.1	+	7	995	c.642G>A	c.(640-642)atG>atA	p.M214I	TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	214	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGGTGAAAATGAATGTGCGAG	0.433																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(640-642)atG>atA		target of myb1 (chicken)-like 1							231	210	217					17																	52993145		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52993145G>A	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.642G>A	17.37:g.52993145G>A	ENSP00000460823:p.Met214Ile					TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I	p.M214I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			7	995	+			214			GAT.		Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.642G>A	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924678	0.92319	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.17	6.17	0.99709	GAT (2);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.997;0.999	D;D;D;D;D;D	0.87578	0.954;0.995;0.996;0.992;0.994;0.998	T	0.61446	-0.7061	10	0.66056	D	0.02	-21.2778	18.3732	0.90420	0.0:0.0:1.0:0.0	.	102;207;137;214;214;137	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	I	214;102;137;137	ENSP00000408958:M214I;ENSP00000441242:M102I;ENSP00000343901:M137I;ENSP00000443099:M137I	ENSP00000343901:M137I	M	+	3	0	TOM1L1	50348144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.189000	0.65098	2.941000	0.99782	0.655000	0.94253	ATG		0.433	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		134	194	0	0	0	1	0	134	194					A	52993145	G	A	52993145	3	1	426	1	0	0	0	0	1	0	0	0	16349	1290	45	2	668	2	TOM1L1	17	52993145	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	4257582	52993145	28202065	52	36503											
PPM1D	8493	broad.mit.edu	37	chr17	58740542	58740543	+	Frame_Shift_Del	DEL	AC	AC	-													aaaattgcgctaaagccctgActttaaggatacatgattct							TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:58740542_58740543delAC	ENST00000305921.3	+	6	1679_1680	c.1447_1448delAC	c.(1447-1449)actfs	p.T483fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	483					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAAGCCCTGACTTTAAGGATA	0.391											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1447-1449)tfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740542_58740543delAC	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1447_1448delAC	17.37:g.58740542_58740543delAC	ENSP00000306682:p.Thr483fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.T483fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1679_1680	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		483					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1447_1448delAC	CCDS11625.1																																																																																				0.391	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		72	217						72	217	---	---	---	---	-	58740543	AC	-	58740542	7	5	426	1	0	1	0	1	0	0	0	0	12337	275	10	0	1469	0	PPM1D	17	58740542	Frame_Shift_Del	DEL	AC	TCGA-S9-A6UA-01A-12D-A33T-08	5747397	58740542	22454668	53	36504											
WIPI1	55062	broad.mit.edu	37	chr17	66449057	66449057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacacacttactgcttcCgtggacttgatccagctgct	7	14	1	1	rs200734974		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:66449057C>T	ENST00000262139.5	-	2	156	c.157G>A	c.(157-159)Gga>Aga	p.G53R	WIPI1_ENST00000546360.1_Intron|WIPI1_ENST00000589459.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	53					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTACTGCTTCCGTGGACTTGA	0.498																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(157-159)Gga>Aga		WD repeat domain, phosphoinositide interacting 1		C	ARG/GLY	0,4406		0,0,2203	102	90	94		157	6.1	1	17		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	WIPI1	NM_017983.5	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	53/447	66449057	1,13005	2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66449057C>T		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.157G>A	17.37:g.66449057C>T	ENSP00000262139:p.Gly53Arg					WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron	p.G53R	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			2	156	-			53					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.157G>A	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470443	0.43942	0.0	1.16E-4	ENSG00000070540	ENST00000262139	T	0.51325	0.71	6.11	6.11	0.99139	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055091	0.64402	D	0.000001	T	0.31389	0.0795	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09143	-1.0688	10	0.23891	T	0.37	-10.0509	18.9147	0.92501	0.0:1.0:0.0:0.0	.	53	Q5MNZ9	WIPI1_HUMAN	R	53	ENSP00000262139:G53R	ENSP00000262139:G53R	G	-	1	0	WIPI1	63960652	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.789000	0.75110	2.906000	0.99361	0.655000	0.94253	GGA		0.498	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		6	149	0	0	0	1	0	6	149					T	66449057	C	T	66449057	3	4	426	1	0	0	0	0	1	0	0	0	17367	661	23	1	1231	1	WIPI1	17	66449057	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	7708515	66449057	14746153	54	36505											
B3GNTL1	146712	broad.mit.edu	37	chr17	80923550	80923550	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctccctcgttaaaggggcCcacgtgggagaaccacgctc	11	15	0	1	rs142904836		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:80923550C>G	ENST00000320865.3	-	7	590	c.577G>C	c.(577-579)Ggc>Cgc	p.G193R	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.G82R|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	193							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)			TTAAAGGGGCCCACGTGGGAG	0.592																																						ENST00000576599.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(244-246)Ggc>Cgc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1							43	39	41					17																	80923550		2203	4299	6502	SO:0001583	missense	146712						transferase activity, transferring glycosyl groups	g.chr17:80923550C>G	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.577G>C	17.37:g.80923550C>G	ENSP00000319979:p.Gly193Arg					B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G193R	p.G82R			Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		7	994	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	193					Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	c.244G>C	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142214	0.77775	.	.	ENSG00000175711	ENST00000320865	T	0.58652	0.32	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82236	-0.0557	9	.	.	.	-23.8828	15.7877	0.78319	0.0:1.0:0.0:0.0	.	193	Q67FW5	B3GNL_HUMAN	R	193	ENSP00000319979:G193R	.	G	-	1	0	B3GNTL1	78516839	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	6.020000	0.70826	2.428000	0.82296	0.462000	0.41574	GGC		0.592	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		12	17	0	0	0	1	0	12	17					G	80923550	C	G	80923550	3	3	426	1	0	0	0	0	1	0	0	0	1265	623	22	4	532	4	B3GNTL1	17	80923550	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	14474493	80923550	271660	55	36506											
OR1M1	125963	broad.mit.edu	37	chr19	9204100	9204100	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctccacacccccatgtaCttcttcctggccaacctgtc	4	20	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:9204100C>A	ENST00000429566.3	+	1	246	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	60						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)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCCATGTACTTCTTCCTGG	0.542																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(178-180)taC>taA		olfactory receptor, family 1, subfamily M, member 1							119	91	101					19																	9204100		2203	4300	6503	SO:0001587	stop_gained	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204100C>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.180C>A	19.37:g.9204100C>A	ENSP00000401966:p.Tyr60*						p.Y60*	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	246	+			60					B9EHA6|Q6IFJ3|Q96R91	Nonsense_Mutation	SNP	ENST00000429566.3	37	c.180C>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	15.15	2.749273	0.49257	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	.	.	.	3.49	-0.129	0.13502	.	0.000000	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3713	0.26802	0.0:0.6662:0.0:0.3338	.	.	.	.	X	63;60	.	ENSP00000303195:Y63X	Y	+	3	2	OR1M1	9065100	0.549000	0.26481	0.998000	0.56505	0.379000	0.30106	-0.004000	0.12878	-0.046000	0.13446	-0.497000	0.04613	TAC		0.542	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			5	179	1	0	0.014758	1	0.0149448	5	179					A	9204100	C	A	9204100	4	1	426	1	0	0	0	0	0	1	0	0	10968	576	20	4	182	4	OR1M1	19	9204100	Nonsense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		9204100	49924883	56	36507											
CEACAM1	634	broad.mit.edu	37	chr19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccgctgtttgCgggccctggggtagcttgtt	14	11	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	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)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				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						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318	269	285					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	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.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594688.1_RNA	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		6	635	0	0	0	1	0	6	635					T	43031337	C	T	43031337	3	4	426	1	0	0	0	0	1	0	0	0	3187	768	27	1	1429	1	CEACAM1	19	43031337	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	33827237	43031337	16097646	57	36508											
PRKCG	5582	broad.mit.edu	37	chr19	54403579	54403579	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaggagccccatgcagcGtgagtctcggccaacagaga	12	11	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000542049.1_Splice_Site|PRKCG_ENST00000540413.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCCATGCAGCGTGAGTCTCGG	0.597																																						ENST00000263431.3																			1	Unknown(1)	p.?(1)	lung(1)	large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.e12+1		protein kinase C, gamma							67	65	66					19																	54403579		2203	4300	6503	SO:0001630	splice_region_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403579G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1373+1G>A	19.37:g.54403579G>A						PRKCG_ENST00000542049.1_Splice_Site|PRKCG_ENST00000540413.1_Splice_Site		NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	12	1655	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)							B7Z8Q0	Splice_Site	SNP	ENST00000263431.3	37		CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839540	0.71488	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2313	0.59945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCG	59095391	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.029000	0.93718	2.228000	0.72767	0.561000	0.74099	.		0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	Intron	21	64	0	0	0	1	0	21	64					A	54403579	G	A	54403579	5	1	426	1	0	0	0	0	0	0	1	0	12512	1159	40	1	1420	1	PRKCG	19	54403579	Splice_Site	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	11372242	54403579	4725404	58	36509											
PTPN1	5770	broad.mit.edu	37	chr20	49197836	49197836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagttagaagtcgggtcGtggggggaagtcttcgaggt	18	5	1	2	rs138343840	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:49197836G>T	ENST00000371621.3	+	9	1297	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	AAGTCGGGTCGTGGGGGGAAG	0.557																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(1123-1125)Gtg>Ttg		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						69	61	63					20																	49197836		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49197836G>T		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1123G>T	20.37:g.49197836G>T	ENSP00000360683:p.Val375Leu					PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	p.V375L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			9	1297	+		Lung NSC(126;0.163)	375					Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.1123G>T	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625775	0.46840	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.04970	4.11;3.52	6.17	-2.35	0.06684	.	0.629545	0.15071	N	0.282206	T	0.03520	0.0101	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.43861	-0.9365	10	0.20046	T	0.44	.	7.1033	0.25351	0.2417:0.3014:0.4568:0.0	.	375	P18031	PTN1_HUMAN	L	375;302	ENSP00000360683:V375L;ENSP00000437732:V302L	ENSP00000360683:V375L	V	+	1	0	PTPN1	48631243	0.000000	0.05858	0.000000	0.03702	0.644000	0.38419	-0.039000	0.12124	-0.636000	0.05524	-0.175000	0.13238	GTG		0.557	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			22	50	1	0	3.6726e-16	1	3.81569e-16	22	50					T	49197836	G	T	49197836	3	4	426	1	0	0	0	0	1	0	0	0	12779	1145	40	4	1157	4	PTPN1	20	49197836	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		49197836	13827684	59	36510											
SON	6651	broad.mit.edu	37	chr21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgttagcaactagctcaAtggattcccagatgttagca	9	8	1	2	rs142324795		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													A|||	1	0.000199681	0.0	0.0014	5008	,	,		26099	0.0		0.0	False		,,,				2504	0.0					ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2581-2583)Atg>Gtg		SON DNA binding protein		A	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	173	169	170		2581,2581	5.7	1	21	dbSNP_134	170	0,8600		0,0,4300	yes	missense,missense	SON	NM_032195.1,NM_138927.1	21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	861/2304,861/2427	34924118	1,13005	2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924118A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2581A>G	21.37:g.34924118A>G	ENSP00000348984:p.Met861Val					SON_ENST00000381679.4_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M861V	p.M861V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3056	+			861			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2581A>G	CCDS13629.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	13.29	2.193512	0.38707	2.27E-4	0.0	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	D	0.86418	0.5928	M	0.63843	1.955	0.29292	N	0.869312	P;P;B	0.50369	0.891;0.934;0.02	P;D;B	0.65684	0.867;0.937;0.041	T	0.80930	-0.1162	10	0.21014	T	0.42	.	13.9442	0.64075	1.0:0.0:0.0:0.0	.	861;861;861	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	861	ENSP00000348984:M861V;ENSP00000290239:M861V;ENSP00000300278:M861V;ENSP00000371095:M861V	ENSP00000290239:M861V	M	+	1	0	SON	33845988	0.861000	0.29849	1.000000	0.80357	0.955000	0.61496	1.578000	0.36525	2.168000	0.68352	0.524000	0.50904	ATG		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		13	455	0	0	0	1	0	13	455					G	34924118	A	G	34924118	3	3	426	1	0	0	0	0	1	0	0	0	14926	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08		34924118	13205777	60	36511											
RAB36	9609	broad.mit.edu	37	chr22	23487582	23487582	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgcaagctggatgctTggacgcgccgctgccagtcc	15	14	0	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:23487582T>A	ENST00000263116.2	+	1	70	c.30T>A	c.(28-30)ctT>ctA	p.L10L	RAB36_ENST00000341989.4_Silent_p.L10L|RTDR1_ENST00000406876.1_5'Flank	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	10					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTGGATGCTTGGACGCGCCG	0.667																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(28-30)ctT>ctA		RAB36, member RAS oncogene family							53	59	57					22																	23487582		2203	4299	6502	SO:0001819	synonymous_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23487582T>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.30T>A	22.37:g.23487582T>A						RAB36_ENST00000341989.4_Silent_p.L10L	p.L10L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	1	70	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		10					Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	ENST00000263116.2	37	c.30T>A	CCDS13805.1																																																																																				0.667	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		9	162	0	0	0	1	0	9	162					A	23487582	T	A	23487582	2	1	426	1	0	0	0	0	0	0	0	1	12926	1799	63	5		5	RAB36	22	23487582	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		23487582	27816984	61	36512											
HPS4	89781	broad.mit.edu	37	chr22	26860001	26860001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagccccatgcaggactctGctggtgtcagcctggagctg	14	13	2	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:26860001G>A	ENST00000398145.2	-	11	2211	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V|HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	532					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAGGACTCTGCTGGTGTCAG	0.607									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1594-1596)gCa>gTa		Hermansky-Pudlak syndrome 4							75	72	73					22																	26860001		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860001G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1595C>T	22.37:g.26860001G>A	ENSP00000381213:p.Ala532Val					HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V	p.A532V	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	2211	-			532					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1595C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703521	0.30232	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.34275	1.38;1.37;1.38;1.38	4.5	-0.231	0.13086	.	0.874539	0.09944	N	0.735594	T	0.29749	0.0743	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B	0.20052	0.041;0.019;0.019;0.041;0.041;0.019	B;B;B;B;B;B	0.16722	0.016;0.011;0.011;0.016;0.016;0.011	T	0.28964	-1.0027	9	.	.	.	-0.9171	5.3983	0.16281	0.2646:0.1465:0.5889:0.0	.	532;532;532;532;545;527	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	V	532;545;527;532	ENSP00000381213:A532V;ENSP00000381210:A545V;ENSP00000384185:A527V;ENSP00000338457:A532V	.	A	-	2	0	HPS4	25190001	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.062000	0.11674	0.181000	0.19994	0.655000	0.94253	GCA		0.607	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		44	107	0	0	0	1	0	44	107					A	26860001	G	A	26860001	3	1	426	1	0	0	0	0	1	0	0	0	7341	1319	46	2	547	2	HPS4	22	26860001	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	3372419	26860001	24444565	62	36513											
CLCN4	1183	broad.mit.edu	37	chrX	10176378	10176378	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcattgtggtgactgccatCactgccatcattgcctaccc	8	14	3	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:10176378C>T	ENST00000380833.4	+	9	1528	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CLCN4_ENST00000380829.1_Silent_p.I348I|CLCN4_ENST00000421085.2_Silent_p.I285I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	379					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACTGCCATCACTGCCATCA	0.582																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1135-1137)atC>atT		chloride channel, voltage-sensitive 4							163	151	155					X																	10176378		2203	4300	6503	SO:0001819	synonymous_variant	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176378C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1137C>T	X.37:g.10176378C>T						CLCN4_ENST00000380829.1_Silent_p.I348I|CLCN4_ENST00000421085.2_Silent_p.I285I	p.I379I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1528	+			379					A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	c.1137C>T	CCDS14137.1																																																																																				0.582	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			23	247	0	0	0	1	0	23	247					T	10176378	C	T	10176378	2	4	426	1	0	0	0	0	0	0	0	1	3465	816	29	2		2	CLCN4	23	10176378	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		10176378	145094182	63	36514											
ATRX	546	broad.mit.edu	37	chrX	76920268	76920268	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagcatcttcttggcaattCttgagagtaaaaaacaataa	6	6	3	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:76920268C>T	ENST00000373344.5	-	11	4024		c.e11-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						CTTGGCAATTCTTGAGAGTAA	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e11-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						64	57	59					X																	76920268		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920268C>T	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.3810-1G>A	X.37:g.76920268C>T						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4024	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748573	0.69533	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2937	0.87164	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76806924	1.000000	0.71417	0.992000	0.48379	0.901000	0.52897	6.697000	0.74603	2.095000	0.63458	0.600000	0.82982	.		0.303	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	32	34	0	0	0	1	0	32	34					T	76920268	C	T	76920268	5	4	426	1	0	0	0	0	0	0	1	0	1208	927	32	2	3769	2	ATRX	23	76920268	Splice_Site	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	66743890	76920268	78350292	64	36515											
RPL10	6134	broad.mit.edu	37	chrX	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-													gcatttttgacctggggcggAaaaaggcaaaagtggatgag							TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:153627860delA	ENST00000369817.2	+	5	691	c.115delA	c.(115-117)aaafs	p.K40fs	SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Frame_Shift_Del_p.K40fs|RPL10_ENST00000406022.2_5'UTR			P27635	RL10_HUMAN	ribosomal protein L10	40					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)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(115-117)aafs		ribosomal protein L10							134	130	131					X																	153627860		2203	4300	6503	SO:0001589	frameshift_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627860delA	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"L ribosomal proteins"	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.115delA	X.37:g.153627860delA	ENSP00000358832:p.Lys40fs		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs	p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	303	+	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)		40					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Frame_Shift_Del	DEL	ENST00000369817.2	37	c.115delA	CCDS14746.1																																																																																				0.512	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		7	210						7	210	---	---	---	---	-	153627860	A	-	153627860	7	5	426	1	0	1	0	1	0	0	0	0	13554	247	9	0	125	0	RPL10	23	153627860	Frame_Shift_Del	DEL	A	TCGA-S9-A6UA-01A-12D-A33T-08	76707592	153627860	1642700	65	36516											
CDC73	79577	broad.mit.edu	37	chr1	193218979	193218979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatagaccagtgttcttaCggttttgggaaacattggac	12	6	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:193218979C>T	ENST00000367435.3	+	16	1721	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	513	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTGTTCTTACGGTTTTGGGA	0.348																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(1537-1539)Cgg>Tgg		cell division cycle 73							118	120	119					1																	193218979		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193218979C>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1537C>T	1.37:g.193218979C>T	ENSP00000356405:p.Arg513Trp					CDC73_ENST00000477868.1_3'UTR	p.R513W	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			16	1721	+			513					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.1537C>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572159	0.45798	.	.	ENSG00000134371	ENST00000367435	T	0.65178	-0.14	5.53	1.44	0.22558	.	0.125364	0.53938	N	0.000051	T	0.55721	0.1938	L	0.50333	1.59	0.53688	D	0.99997	D	0.56746	0.977	P	0.47941	0.562	T	0.53034	-0.8495	10	0.72032	D	0.01	-5.248	5.2781	0.15661	0.3741:0.4392:0.1207:0.066	.	513	Q6P1J9	CDC73_HUMAN	W	513	ENSP00000356405:R513W	ENSP00000356405:R513W	R	+	1	2	CDC73	191485602	1.000000	0.71417	0.878000	0.34440	0.231000	0.25187	3.613000	0.54152	0.010000	0.14839	-1.057000	0.02308	CGG		0.348	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		63	106	0	0	0	1	0	63	106					T	193218979	C	T	193218979	3	4	427	1	0	0	0	0	1	0	0	0	3085	527	19	1	1599	1	CDC73	1	193218979	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		193218979	56031642	1	36517											
TRAF5	7188	broad.mit.edu	37	chr1	211544684	211544684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcagcttggctagaagCtcaagtgcatcaattattac	8	9	3	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:211544684C>T	ENST00000261464.5	+	10	1025	c.971C>T	c.(970-972)gCt>gTt	p.A324V	TRAF5_ENST00000336184.2_Missense_Mutation_p.A324V|TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	324					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|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)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGCTAGAAGCTCAAGTGCAT	0.318																																						ENST00000261464.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(970-972)gCt>gTt		TNF receptor-associated factor 5							79	80	80					1																	211544684		2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211544684C>T	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.971C>T	1.37:g.211544684C>T	ENSP00000261464:p.Ala324Val					TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000336184.2_Missense_Mutation_p.A324V|TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V	p.A324V	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	10	1025	+			324					B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.971C>T	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906965	0.33628	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.36340	2.1;1.26;2.1;2.1	4.74	3.8	0.43715	.	1.591440	0.03527	N	0.221886	T	0.30355	0.0762	L	0.34521	1.04	0.23416	N	0.997725	B;B;B	0.16802	0.019;0.002;0.001	B;B;B	0.14578	0.011;0.001;0.001	T	0.18304	-1.0341	10	0.27082	T	0.32	-20.5019	7.2495	0.26142	0.1672:0.7434:0.0:0.0894	.	218;335;324	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	V	324;218;324;324	ENSP00000336825:A324V;ENSP00000389891:A218V;ENSP00000261464:A324V;ENSP00000355971:A324V	ENSP00000261464:A324V	A	+	2	0	TRAF5	209611307	0.999000	0.42202	1.000000	0.80357	0.925000	0.55904	2.059000	0.41384	1.067000	0.40740	0.591000	0.81541	GCT		0.318	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		31	98	0	0	0	1	0	31	98					T	211544684	C	T	211544684	3	4	427	1	0	0	0	0	1	0	0	0	16441	797	28	2	1005	2	TRAF5	1	211544684	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	18325705	211544684	37705937	2	36518											
APOB	338	broad.mit.edu	37	chr2	21238368	21238368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcttctgcttgcaaacGgggtatggaaataacaccct	10	10	2	0	rs72653076	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:21238368G>A	ENST00000233242.1	-	22	3509	c.3382C>T	c.(3382-3384)Cgt>Tgt	p.R1128C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1128			R -> H (in dbSNP:rs12713843). {ECO:0000269|PubMed:14732481}.		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)					GCTTGCAAACGGGGTATGGAA	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19532	0.0		0.0	False		,,,				2504	0.0					ENST00000233242.1																			0				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						c.(3382-3384)Cgt>Tgt		apolipoprotein B	Atorvastatin(DB01076)	G	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	128	122	124		3382	5.4	0.9	2	dbSNP_130	124	3,8597	3.0+/-9.4	0,3,4297	yes	missense	APOB	NM_000384.2	180	0,9,6494	AA,AG,GG		0.0349,0.1362,0.0692	probably-damaging	1128/4564	21238368	9,12997	2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21238368G>A	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.3382C>T	2.37:g.21238368G>A	ENSP00000233242:p.Arg1128Cys						p.R1128C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			22	3509	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1128		R -> H (in dbSNP:rs12713843).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3382C>T	CCDS1703.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.9	4.578443	0.86645	0.001362	3.49E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.43	5.43	0.79202	.	0.096408	0.46442	D	0.000295	T	0.04679	0.0127	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	P	0.60609	0.877	T	0.17349	-1.0372	10	0.87932	D	0	.	17.798	0.88579	0.0:0.0:1.0:0.0	.	1128	P04114	APOB_HUMAN	C	1128	ENSP00000233242:R1128C	ENSP00000233242:R1128C	R	-	1	0	APOB	21091873	1.000000	0.71417	0.949000	0.38748	0.995000	0.86356	4.626000	0.61269	2.732000	0.93576	0.655000	0.94253	CGT		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			41	59	0	0	0	1	0	41	59					A	21238368	G	A	21238368	3	1	427	1	0	0	0	0	1	0	0	0	785	1116	39	1	10341	1	APOB	2	21238368	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		21238368	221961005	3	36519											
KIF5C	3800	broad.mit.edu	37	chr2	149679717	149679717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttttagcaagggaagccAtatgtcttcgacagagtgct	10	8	1	1	rs560119808	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:149679717A>G	ENST00000435030.1	+	2	506	c.138A>G	c.(136-138)ccA>ccG	p.P46P				O60282	KIF5C_HUMAN	kinesin family member 5C	46	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		AAGGGAAGCCATATGTCTTCG	0.388													A|||	11	0.00219649	0.0	0.0	5008	,	,		21363	0.0		0.0	False		,,,				2504	0.0112					ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(136-138)ccA>ccG		kinesin family member 5C							81	78	79					2																	149679717		1862	4115	5977	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149679717A>G	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.138A>G	2.37:g.149679717A>G							p.P46P			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	2	506	+			46			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.138A>G																																																																																					0.388	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		16	35	0	0	0	1	0	16	35					G	149679717	A	G	149679717	2	3	427	1	0	0	0	0	0	0	0	1	8307	204	8	3		3	KIF5C	2	149679717	Silent	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08	128441349	149679717	93519656	4	36520											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	102	0	0	0	1	0	71	102					T	209113112	C	T	209113112	3	4	427	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	59433395	209113112	34086261	5	36521											
GPR149	344758	broad.mit.edu	37	chr3	154146723	154146727	+	Frame_Shift_Del	DEL	TGGAG	TGGAG	-													acgggaaatttcctggtagtTggagtggagtctcggcggct							TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:154146723_154146727delTGGAG	ENST00000389740.2	-	1	777_781	c.678_682delCTCCA	c.(676-684)cactccaacfs	p.HSN226fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	226					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S227S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTGGTAGTTGGAGTGGAGTCTCG	0.595																																						ENST00000389740.2																			1	Substitution - coding silent(1)	p.S227S(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(676-684)caacfs		G protein-coupled receptor 149																																				SO:0001589	frameshift_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146723_154146727delTGGAG	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.678_682delCTCCA	3.37:g.154146728_154146732delTGGAG	ENSP00000374390:p.His226fs						p.HSN226fs	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	777_781	-			226						Frame_Shift_Del	DEL	ENST00000389740.2	37	c.678_682delCTCCA	CCDS43162.1																																																																																				0.595	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		42	102						42	102	---	---	---	---	-	154146727	TGGAG	-	154146723	7	5	427	1	0	1	0	1	0	0	0	0	6654	1812	63	0	1529	0	GPR149	3	154146723	Frame_Shift_Del	DEL	TGGAG	TCGA-S9-A6UB-01A-21D-A33T-08		154146723	43875707	6	36522											
TRA2B	6434	broad.mit.edu	37	chr3	185637272	185637272	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctctccatcctcctcctccTccacctcctcctctgtgaag	4	21	2	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:185637272T>A	ENST00000453386.2	-	7	1010	c.735A>T	c.(733-735)ggA>ggT	p.G245G	TRA2B_ENST00000382191.4_Silent_p.G145G	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	245	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ctcctcctcctccacctcctc	0.393																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(733-735)ggA>ggT		transformer 2 beta homolog (Drosophila)							115	101	106					3																	185637272		2203	4300	6503	SO:0001819	synonymous_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185637272T>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.735A>T	3.37:g.185637272T>A						TRA2B_ENST00000382191.4_Silent_p.G145G	p.G245G	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			7	1010	-			245			Arg/Ser-rich (RS2 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Silent	SNP	ENST00000453386.2	37	c.735A>T	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	T	3.831	-0.035775	0.07497	.	.	ENSG00000136527	ENST00000414862	.	.	.	5.8	-3.23	0.05109	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31223	-0.9951	4	.	.	.	-6.9334	3.3798	0.07251	0.3048:0.0642:0.1088:0.5223	.	.	.	.	V	65	.	.	E	-	2	0	TRA2B	187119966	0.041000	0.20044	0.912000	0.35992	0.255000	0.26057	-1.538000	0.02204	-0.823000	0.04301	-1.696000	0.00724	GAG		0.393	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		5	124	0	0	0	1	0	5	124					A	185637272	T	A	185637272	2	1	427	1	0	0	0	0	0	0	0	1	16431	1538	54	5		5	TRA2B	3	185637272	Silent	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08	31490549	185637272	12385158	7	36523											
RNF168	165918	broad.mit.edu	37	chr3	196229932	196229932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggtcgactggaagcacGgtttacacagcgtgtggtta	14	9	0	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:196229932G>A	ENST00000318037.3	-	1	707	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	38					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P38Q(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGAAGCACGGTTTACACAG	0.582																																						ENST00000318037.3																			1	Substitution - Missense(1)	p.P38Q(1)	lung(1)	NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(112-114)cCg>cTg		ring finger protein 168, E3 ubiquitin protein ligase							138	113	121					3																	196229932		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229932G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.113C>T	3.37:g.196229932G>A	ENSP00000320898:p.Pro38Leu						p.P38L	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	707	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		38					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.113C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979411	0.53827	.	.	ENSG00000163961	ENST00000318037	D	0.84442	-1.85	6.0	6.0	0.97389	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.323582	0.27092	N	0.020977	T	0.79958	0.4536	N	0.20401	0.57	0.32300	N	0.565177	P	0.51449	0.945	B	0.42361	0.385	D	0.83439	0.0042	10	0.62326	D	0.03	-3.6281	20.5595	0.99322	0.0:0.0:1.0:0.0	.	38	Q8IYW5	RN168_HUMAN	L	38	ENSP00000320898:P38L	ENSP00000320898:P38L	P	-	2	0	RNF168	197714329	0.979000	0.34478	0.029000	0.17559	0.061000	0.15899	5.916000	0.69981	2.868000	0.98415	0.555000	0.69702	CCG		0.582	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		5	184	0	0	0	1	0	5	184					A	196229932	G	A	196229932	3	1	427	1	0	0	0	0	1	0	0	0	13459	1116	39	1	1626	1	RNF168	3	196229932	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	10592660	196229932	1792498	8	36524											
NIPBL	25836	broad.mit.edu	37	chr5	36962286	36962286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacagcaaaatagcccaGtgcctagtccatacgcccca	7	16	0	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:36962286G>A	ENST00000282516.8	+	6	1019	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	174					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)			AAATAGCCCAGTGCCTAGTCC	0.438																																						ENST00000282516.8																			0				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						c.(520-522)Gtg>Atg		Nipped-B homolog (Drosophila)							254	232	240					5																	36962286		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36962286G>A	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.520G>A	5.37:g.36962286G>A	ENSP00000282516:p.Val174Met					NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M|NIPBL_ENST00000504430.1_3'UTR	p.V174M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		6	1019	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		174					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.520G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023098	0.93462	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94862	-3.53;-3.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	L	0.57536	1.79	0.44736	D	0.99773	D;D	0.65815	0.991;0.995	P;D	0.66497	0.881;0.944	D	0.96451	0.9334	10	0.62326	D	0.03	.	19.4838	0.95020	0.0:0.0:1.0:0.0	.	174;174	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	M	174	ENSP00000282516:V174M;ENSP00000406266:V174M	ENSP00000282516:V174M	V	+	1	0	NIPBL	36998043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.318000	0.72866	2.695000	0.91970	0.655000	0.94253	GTG		0.438	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		181	250	0	0	0	1	0	181	250					A	36962286	G	A	36962286	3	1	427	1	0	0	0	0	1	0	0	0	10428	1029	36	2	538	2	NIPBL	5	36962286	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		36962286	143952974	9	36525											
ZNF366	167465	broad.mit.edu	37	chr5	71756109	71756109	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtggttctgcagctggctCgggtactggaaggtcttgtc	15	8	2	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:71756109C>T	ENST00000318442.5	-	2	1705	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	405					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)		GCAGCTGGCTCGGGTACTGGA	0.597																																						ENST00000318442.5																			0				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						c.(1213-1215)ccG>ccA		zinc finger protein 366							124	96	106					5																	71756109		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756109C>T	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.1215G>A	5.37:g.71756109C>T							p.P405P	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1705	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	405					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1215G>A	CCDS4015.1																																																																																				0.597	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			37	38	0	0	0	1	0	37	38					T	71756109	C	T	71756109	2	4	427	1	0	0	0	0	0	0	0	1	17867	871	31	1		1	ZNF366	5	71756109	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	34793823	71756109	109159151	10	36526											
PCDHA1	56147	broad.mit.edu	37	chr5	140167257	140167257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcgcagcccgagtacaCagtattcgtgaaggagaaca	12	10	0	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:140167257C>T	ENST00000504120.2	+	1	1382	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	461	Cadherin 5. {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)			CCCGAGTACACAGTATTCGTG	0.672																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1381-1383)aCa>aTa									63	69	67					5																	140167257		2203	4299	6502	SO:0001583	missense	0							g.chr5:140167257C>T	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.1382C>T	5.37:g.140167257C>T	ENSP00000420840:p.Thr461Ile					PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I	p.T461I	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1382	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1382C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	13.33	2.204548	0.38905	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01821	4.62;4.62;4.62	4.02	4.02	0.46733	Cadherin (4);Cadherin-like (1);	0.000000	0.42548	U	0.000681	T	0.06917	0.0176	L	0.50333	1.59	0.28572	N	0.9106	D;P;D	0.89917	0.995;0.931;1.0	D;P;D	0.74674	0.984;0.582;0.945	T	0.01156	-1.1434	10	0.87932	D	0	.	13.4741	0.61297	0.0:0.8294:0.1706:0.0	.	461;461;461	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	461	ENSP00000420840:T461I;ENSP00000378129:T461I;ENSP00000367373:T461I	ENSP00000367373:T461I	T	+	2	0	PCDHA1	140147441	0.026000	0.19158	0.994000	0.49952	0.227000	0.25037	0.387000	0.20718	1.984000	0.57885	0.549000	0.68633	ACA		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		94	132	0	0	0	1	0	94	132					T	140167257	C	T	140167257	3	4	427	1	0	0	0	0	1	0	0	0	11519	478	17	2	1384	2	PCDHA1	5	140167257	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	68411148	140167257	40748003	11	36527											
MAPK9	5601	broad.mit.edu	37	chr5	179674427	179674427	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcggggccaaggtcgcGgggaaggatacggtcagtgc	19	9	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:179674427G>A	ENST00000452135.2	-	7	987				MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000425491.2_Missense_Mutation_p.R234C|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000343111.6_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000347470.4_Intron			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						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)			CCAAGGTCGCGGGGAAGGATA	0.502																																						ENST00000425491.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(700-702)Cgc>Tgc		mitogen-activated protein kinase 9							90	78	82					5																	179674427		2203	4300	6503	SO:0001627	intron_variant	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179674427G>A	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.688+11C>T	5.37:g.179674427G>A						MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000343111.6_Intron	p.R234C	NM_001135044.1	NP_001128516.1	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	866	-	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)	0			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.700C>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	5.940	0.357401	0.11239	.	.	ENSG00000050748	ENST00000425491	T	0.75704	-0.96	3.74	-0.696	0.11287	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.58432	D	0.999999	B	0.31077	0.307	B	0.21546	0.035	T	0.42865	-0.9426	8	0.87932	D	0	.	5.3651	0.16109	0.3014:0.4596:0.239:0.0	.	234	P45984-5	.	C	234	ENSP00000397422:R234C	ENSP00000397422:R234C	R	-	1	0	MAPK9	179607033	0.997000	0.39634	0.007000	0.13788	0.123000	0.20343	0.889000	0.28282	-0.668000	0.05296	-0.181000	0.13052	CGC		0.502	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			4	66	0	0	0	1	0	4	66					A	179674427	G	A	179674427	1	1	427	0	1	0	0	0	0	0	0	0	9287	1116	39	1		1	MAPK9	5	179674427	Intron	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	39507170	179674427	1240833	12	36528											
HIVEP1	3096	broad.mit.edu	37	chr6	12123517	12123517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccccagtttctttccaGgagctgaatagaacggggaa	11	11	1	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:12123517G>A	ENST00000379388.2	+	4	3821	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1163					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)				TTTCTTTCCAGGAGCTGAATA	0.522																																						ENST00000379388.2																			0				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						c.(3487-3489)caG>caA		human immunodeficiency virus type I enhancer binding protein 1							42	42	42					6																	12123517		1840	4083	5923	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123517G>A	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.3489G>A	6.37:g.12123517G>A							p.Q1163Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	3821	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1163					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3489G>A	CCDS43426.1																																																																																				0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		37	62	0	0	0	1	0	37	62					A	12123517	G	A	12123517	2	1	427	1	0	0	0	0	0	0	0	1	7186	991	35	2		2	HIVEP1	6	12123517	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		12123517	158991550	13	36529											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727377	25727377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatagcgagcgaggcatcaCgtttggctcactacagcaag	12	10	2	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:25727377C>T	ENST00000274764.2	+	1	241	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	81					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						CGAGGCATCACGTTTGGCTCA	0.507																																						ENST00000274764.2																			0				breast(1)|kidney(1)	2						c.(241-243)Cgt>Tgt		histone cluster 1, H2ba							383	283	317					6																	25727377		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727377C>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"Histones / Replication-dependent"	18730	protein-coding gene	gene with protein product		609904	"H2B histone family, member U, (testis-specific)", "histone 1, H2ba"			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.241C>T	6.37:g.25727377C>T	ENSP00000274764:p.Arg81Cys						p.R81C	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN			1	241	+			81					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.241C>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601738	0.28534	.	.	ENSG00000146047	ENST00000274764	T	0.32753	1.44	3.02	3.02	0.34903	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	T	0.55353	0.1915	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66400	-0.5933	10	0.52906	T	0.07	.	13.8007	0.63199	0.0:1.0:0.0:0.0	.	81	Q96A08	H2B1A_HUMAN	C	81	ENSP00000274764:R81C	ENSP00000274764:R81C	R	+	1	0	HIST1H2BA	25835356	1.000000	0.71417	0.011000	0.14972	0.004000	0.04260	7.474000	0.81024	2.000000	0.58554	0.549000	0.68633	CGT		0.507	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		4	156	0	0	0	1	0	4	156					T	25727377	C	T	25727377	3	4	427	1	0	0	0	0	1	0	0	0	7140	536	19	1	243	1	HIST1H2BA	6	25727377	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	13603860	25727377	145387690	14	36530											
KIAA1586	57691	broad.mit.edu	37	chr6	56918978	56918979	+	Frame_Shift_Ins	INS	-	-	T													aaaattgatcaaacgtaccaINStaagagctttggaaaattta							TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:56918978_56918979insT	ENST00000370733.4	+	4	1888_1889	c.1681_1682insT	c.(1681-1683)atafs	p.I561fs	KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.I534fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	561							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAACGTACCATAAGAGCTTTG	0.267																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(1681-1683)aagfs		KIAA1586																																				SO:0001589	frameshift_variant	57691						nucleic acid binding	g.chr6:56918978_56918979insT	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1682dupT	6.37:g.56918979_56918979dupT	ENSP00000359768:p.Ile561fs					KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.K534fs	p.K561fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1888_1889	+	Lung NSC(77;0.0969)		561					A8K4M3|Q8IW25	Frame_Shift_Ins	INS	ENST00000370733.4	37	c.1681_1682insT	CCDS34480.1																																																																																				0.267	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		52	57						52	57	---	---	---	---	T	56918979	-	T	56918978	7	5	427	1	0	1	1	0	0	0	0	0	8245	217	8	0	1695	0	KIAA1586	6	56918978	Frame_Shift_Ins	INS	-	TCGA-S9-A6UB-01A-21D-A33T-08	31191601	56918978	114196089	15	36531											
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	10	8	2	0	rs369142492		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					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)	p.K157R(1)		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)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160	160	160		470,470,470	3.3	1	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	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.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg					BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	686	-		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)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		5	378	0	0	0	1	0	5	378					C	105573335	T	C	105573335	3	2	427	1	0	0	0	0	1	0	0	0	1575	1609	56	3	632	3	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08	48654357	105573335	65541732	16	36532											
OR2A2	442361	broad.mit.edu	37	chr7	143806961	143806961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatctcctttgttccaTgcataatgcagacttttttg	6	10	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr7:143806961T>C	ENST00000408979.2	+	1	355	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	96						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(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTTTGTTCCATGCATAATGCA	0.433																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(286-288)Tgc>Cgc		olfactory receptor, family 2, subfamily A, member 2							246	225	232					7																	143806961		2025	4220	6245	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806961T>C		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.286T>C	7.37:g.143806961T>C	ENSP00000386209:p.Cys96Arg						p.C96R	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	355	+	Melanoma(164;0.0783)		96					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.286T>C	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673066	0.29693	.	.	ENSG00000221989	ENST00000408979	T	0.00545	6.67	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02610	0.0079	M	0.93898	3.47	0.80722	D	1	D	0.61697	0.99	D	0.63381	0.914	T	0.11616	-1.0580	9	0.87932	D	0	-15.9414	10.4392	0.44455	0.0:0.0:0.0:1.0	.	96	Q6IF42	OR2A2_HUMAN	R	96	ENSP00000386209:C96R	ENSP00000386209:C96R	C	+	1	0	OR2A2	143437894	1.000000	0.71417	0.017000	0.16124	0.040000	0.13550	5.638000	0.67861	1.632000	0.50472	0.496000	0.49642	TGC		0.433	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			5	354	0	0	0	1	0	5	354					C	143806961	T	C	143806961	3	2	427	1	0	0	0	0	1	0	0	0	10977	1464	51	3	288	3	OR2A2	7	143806961	Missense_Mutation	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08		143806961	15331702	17	36533											
OR13F1	138805	broad.mit.edu	37	chr9	107266930	107266930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtggccatctgcaacccCctgagataccctgtcatcat	7	14	3	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr9:107266930C>T	ENST00000334726.2	+	1	476	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	129						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(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCAACCCCCTGAGATACC	0.552																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(385-387)ccC>ccT		olfactory receptor, family 13, subfamily F, member 1							87	77	80					9																	107266930		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266930C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.387C>T	9.37:g.107266930C>T							p.P129P	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	476	+			129					Q6IF50	Silent	SNP	ENST00000334726.2	37	c.387C>T	CCDS35087.1																																																																																				0.552	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			61	65	0	0	0	1	0	61	65					T	107266930	C	T	107266930	2	4	427	1	0	0	0	0	0	0	0	1	10941	610	22	2		2	OR13F1	9	107266930	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		107266930	33946501	18	36534											
TUBB8	347688	broad.mit.edu	37	chr10	93719	93719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatatgtcatacagagcttCgttatctatgcaaaaggtct	7	8	3	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:93719C>T	ENST00000309812.4	-	4	675	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.E133K	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	205					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E205K(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			1	Substitution - Missense(1)	p.E205K(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(397-399)Gaa>Aaa		tubulin, beta 8 class VIII							95	88	90					10																	93719		2203	4299	6502	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93719C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.613G>A	10.37:g.93719C>T	ENSP00000311042:p.Glu205Lys					TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E205K	p.E133K			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	712	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	205					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.397G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992271	0.18966	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70631	-0.5	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000009	T	0.79684	0.4488	M	0.93638	3.44	0.36203	D	0.850831	P;P	0.48834	0.796;0.916	B;P	0.51550	0.14;0.673	T	0.80759	-0.1239	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	168;205	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	K	133;171;168;205	ENSP00000403895:E133K	ENSP00000272035:E171K	E	-	1	0	RP11-631M21.2	83719	1.000000	0.71417	0.037000	0.18230	0.038000	0.13279	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GAA		0.537	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		8	290	0	0	0	1	0	8	290					T	93719	C	T	93719	3	4	427	1	0	0	0	0	1	0	0	0	16758	893	31	1	725	1	TUBB8	10	93719	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		93719	135441028	19	36535											
PFKP	5214	broad.mit.edu	37	chr10	3143689	3143689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggggacgggagcctcaccGgggccaacctcttccggaag	16	14	2	0	rs11542782		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:3143689G>A	ENST00000381125.4	+	4	473	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	PFKP_ENST00000381075.2_Missense_Mutation_p.G125R|PFKP_ENST00000421751.1_3'UTR	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	133	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGCCTCACCGGGGCCAACCT	0.667																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(373-375)Ggg>Agg		phosphofructokinase, platelet							25	28	27					10																	3143689		2202	4300	6502	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3143689G>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.397G>A	10.37:g.3143689G>A	ENSP00000370517:p.Gly133Arg					PFKP_ENST00000381125.4_Missense_Mutation_p.G133R	p.G125R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	6	597	+			133					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.373G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752364	0.69533	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.64	4.64	0.57946	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.97362	0.9137	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99824	1.1049	10	0.87932	D	0	.	17.8892	0.88866	0.0:0.0:1.0:0.0	rs11542782	125;133	Q5VSR7;Q01813	.;K6PP_HUMAN	R	133;122;125;95;95	ENSP00000370517:G133R;ENSP00000370465:G125R;ENSP00000410590:G95R;ENSP00000385880:G95R	ENSP00000370465:G125R	G	+	1	0	PFKP	3133689	1.000000	0.71417	0.915000	0.36163	0.142000	0.21351	9.507000	0.97996	2.293000	0.77203	0.650000	0.86243	GGG		0.667	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		8	20	0	0	0	1	0	8	20					A	3143689	G	A	3143689	3	1	427	1	0	0	0	0	1	0	0	0	11766	1116	39	1	411	1	PFKP	10	3143689	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	3049970	3143689	132391058	20	36536											
VCL	7414	broad.mit.edu	37	chr10	75877843	75877843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaaggagactgtgcgGgaagctgaagctgcttcaat	14	7	2	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:75877843G>A	ENST00000211998.4	+	22	3415	c.3321G>A	c.(3319-3321)cgG>cgA	p.R1107R	RP11-178G16.4_ENST00000598318.1_lincRNA|VCL_ENST00000417648.2_Silent_p.R300R|RP11-178G16.5_ENST00000599110.1_lincRNA|VCL_ENST00000372755.3_Silent_p.R1039R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1107	C-terminal tail.				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)					AGACTGTGCGGGAAGCTGAAG	0.522																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(3319-3321)cgG>cgA		vinculin							142	125	131					10																	75877843		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75877843G>A	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.3321G>A	10.37:g.75877843G>A						VCL_ENST00000417648.2_Silent_p.R300R|VCL_ENST00000372755.3_Silent_p.R1039R	p.R1107R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			22	3415	+	Prostate(51;0.0112)		1107			C-terminal tail.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.3321G>A	CCDS7341.1																																																																																				0.522	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		5	268	0	0	0	1	0	5	268					A	75877843	G	A	75877843	2	1	427	1	0	0	0	0	0	0	0	1	17136	1219	43	2		2	VCL	10	75877843	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	72734154	75877843	59656904	21	36537											
ENTPD1	953	broad.mit.edu	37	chr10	97583115	97583115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaagcattgccagaaaaCgttaaggtaagtcaaatata	7	6	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:97583115C>T	ENST00000371205.4	+	2	421	c.138C>T	c.(136-138)aaC>aaT	p.N46N	ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000371207.3_Silent_p.N58N|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_5'UTR			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	46					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCCAGAAAACGTTAAGGTAA	0.468																																						ENST00000371207.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(172-174)aaC>aaT		ectonucleoside triphosphate diphosphohydrolase 1							137	126	130					10																	97583115		2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97583115C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.138C>T	10.37:g.97583115C>T						ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.N46N|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000490659.1_3'UTR	p.N58N	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	2	237	+		Colorectal(252;0.0821)	46	SS -> G (in Ref. 8; AA sequence).				A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.174C>T	CCDS7444.1																																																																																				0.468	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		64	70	0	0	0	1	0	64	70					T	97583115	C	T	97583115	2	4	427	1	0	0	0	0	0	0	0	1	5138	535	19	1		1	ENTPD1	10	97583115	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	21705272	97583115	37951632	22	36538											
PHRF1	57661	broad.mit.edu	37	chr11	587410	587410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaccaggccgtggggacGccggagaactgtgcccatta	15	11	0	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:587410G>A	ENST00000264555.5	+	4	494	c.366G>A	c.(364-366)acG>acA	p.T122T	PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000413872.2_Silent_p.T121T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	122					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCGTGGGGACGCCGGAGAACT	0.557																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(364-366)acG>acA		PHD and ring finger domains 1							121	130	127					11																	587410		2106	4198	6304	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:587410G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.366G>A	11.37:g.587410G>A						PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000413872.2_Silent_p.T121T	p.T122T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			4	494	+			122					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.366G>A																																																																																					0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		60	108	0	0	0	1	0	60	108					A	587410	G	A	587410	2	1	427	1	0	0	0	0	0	0	0	1	11861	1074	38	1		1	PHRF1	11	587410	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		587410	134419106	23	36539											
MUC5B	727897	broad.mit.edu	37	chr11	1247990	1247990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctacgaggacttcaaCgtccagctacgccgaggcct	11	16	1	0	rs370501363		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:1247990C>T	ENST00000529681.1	+	4	403	c.345C>T	c.(343-345)aaC>aaT	p.N115N	MUC5B_ENST00000447027.1_Silent_p.N115N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	115	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		AGGACTTCAACGTCCAGCTAC	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(343-345)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming		C		1,4253		0,1,2126	37	40	39		345	3.7	0.9	11		39	0,8484		0,0,4242	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6368	TT,TC,CC		0.0,0.0235,0.0079		115/5763	1247990	1,12737	2127	4242	6369	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1247990C>T	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.345C>T	11.37:g.1247990C>T						MUC5B_ENST00000529681.1_Silent_p.N115N	p.N115N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	4	403	+		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)	115			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.345C>T	CCDS44515.2																																																																																				0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	53	0	0	0	1	0	5	53					T	1247990	C	T	1247990	2	4	427	1	0	0	0	0	0	0	0	1	9979	535	19	1		1	MUC5B	11	1247990	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	660580	1247990	133758526	24	36540											
GLYAT	10249	broad.mit.edu	37	chr11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaggtctgaatgcagcGctcaatgaatctctggctcc	12	10	3	2	rs138125182	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:58477535G>A	ENST00000344743.3	-	6	736	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	199					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19262	0.001		0.0	False		,,,				2504	0.0					ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(595-597)Cgc>Tgc		glycine-N-acyltransferase	Glycine(DB00145)	G	CYS/ARG	0,4402		0,0,2201	78	79	79		595	5.2	0	11	dbSNP_134	79	2,8588	2.2+/-6.3	0,2,4293	yes	missense	GLYAT	NM_201648.2	180	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	199/297	58477535	2,12990	2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58477535G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.595C>T	11.37:g.58477535G>A	ENSP00000340200:p.Arg199Cys					GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			6	736	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	199					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.595C>T	CCDS7970.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.43	1.935409	0.34189	0.0	2.33E-4	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.19938	2.11;2.11	6.06	5.16	0.70880	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.304112	0.36338	N	0.002658	T	0.52354	0.1729	M	0.91717	3.235	0.22292	N	0.999225	D	0.89917	1.0	D	0.74674	0.984	T	0.55879	-0.8071	10	0.62326	D	0.03	-10.1399	11.4349	0.50062	0.0825:0.0:0.9175:0.0	.	199	Q6IB77	GLYAT_HUMAN	C	199	ENSP00000340200:R199C;ENSP00000431688:R199C	ENSP00000340200:R199C	R	-	1	0	GLYAT	58234111	0.978000	0.34361	0.027000	0.17364	0.054000	0.15201	2.344000	0.44010	1.578000	0.49821	0.650000	0.86243	CGC		0.502	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			69	104	0	0	0	1	0	69	104					A	58477535	G	A	58477535	3	1	427	1	0	0	0	0	1	0	0	0	6479	1087	38	1	299	1	GLYAT	11	58477535	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	57229545	58477535	76528981	25	36541											
ANO1	55107	broad.mit.edu	37	chr11	69957819	69957819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtttttaaggcatcaCgagcctgctggccaatggtg	11	11	2	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:69957819C>T	ENST00000355303.5	+	7	1111	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ANO1_ENST00000531349.1_Missense_Mutation_p.T4M|ANO1_ENST00000538023.1_Missense_Mutation_p.T269M|ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	269					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TAAGGCATCACGAGCCTGCTG	0.532																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(805-807)aCg>aTg		anoctamin 1, calcium activated chloride channel							141	149	146					11																	69957819		2032	4186	6218	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69957819C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.806C>T	11.37:g.69957819C>T	ENSP00000347454:p.Thr269Met					ANO1_ENST00000538023.1_Missense_Mutation_p.T269M|ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000531349.1_Missense_Mutation_p.T4M	p.T269M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			7	1111	+			269					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.806C>T	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.651902|4.651902	0.88056|0.88056	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676;ENST00000531349	.|T;T;T;T;T;T;T	.|0.66995	.|-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.24	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.80352	.|0.4607	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|0.992;1.0;0.998	.|P;D;P	.|0.72338	.|0.714;0.977;0.858	.|T	.|0.79967	.|-0.1580	.|9	.|.	.|.	.|.	.|.	17.8309|17.8309	0.88682|0.88682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4;241;269	.|E9PNA7;Q5XXA6-3;Q5XXA6	.|.;.;ANO1_HUMAN	X|M	134|269;269;153;53;236;241;153;4	.|ENSP00000347454:T269M;ENSP00000444689:T269M;ENSP00000381551:T153M;ENSP00000436392:T236M;ENSP00000319477:T241M;ENSP00000435797:T153M;ENSP00000432843:T4M	.|.	R|T	+|+	1|2	2|0	ANO1|ANO1	69635467|69635467	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.968000|0.968000	0.65278|0.65278	5.123000|5.123000	0.64703|0.64703	2.453000|2.453000	0.82957|0.82957	0.462000|0.462000	0.41574|0.41574	CGA|ACG		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		5	216	0	0	0	1	0	5	216					T	69957819	C	T	69957819	3	4	427	1	0	0	0	0	1	0	0	0	695	536	19	1	832	1	ANO1	11	69957819	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	11480284	69957819	65048697	26	36542											
FAT3	120114	broad.mit.edu	37	chr11	92087443	92087443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttattcaattaatagacaggGaccatattttgacaagtctt	6	6	2	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:92087443G>A	ENST00000298047.6	+	1	2182	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	FAT3_ENST00000525166.1_Missense_Mutation_p.G572E|FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	722					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)				AATAGACAGGGACCATATTTT	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(2164-2166)gGa>gAa		FAT atypical cadherin 3							165	168	167					11																	92087443		1854	4116	5970	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087443G>A	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.2165G>A	11.37:g.92087443G>A	ENSP00000298047:p.Gly722Glu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000525166.1_Missense_Mutation_p.G572E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E	p.G722E			Q8TDW7	FAT3_HUMAN			1	2182	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	722					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2165G>A		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885862	0.33348	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	5.47	0.80525	.	.	.	.	.	T	0.25568	0.0622	N	0.14661	0.345	0.39029	D	0.959894	B	0.27679	0.185	B	0.21360	0.034	T	0.12682	-1.0538	9	0.23302	T	0.38	.	13.3529	0.60611	0.0:0.2656:0.7344:0.0	.	722	Q8TDW7-3	.	E	722;722;722;572	ENSP00000298047:G722E;ENSP00000387040:G722E;ENSP00000443786:G722E;ENSP00000432586:G572E	ENSP00000298047:G722E	G	+	2	0	FAT3	91727091	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	6.803000	0.75180	2.567000	0.86603	0.467000	0.42956	GGA		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		116	181	0	0	0	1	0	116	181					A	92087443	G	A	92087443	3	1	427	1	0	0	0	0	1	0	0	0	5691	1174	41	2	2167	2	FAT3	11	92087443	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	22129624	92087443	42919073	27	36543											
GPR83	10888	broad.mit.edu	37	chr11	94113633	94113633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgttggtgcggatgacCttgctggacaggaggaggac	17	7	0	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:94113633C>T	ENST00000243673.2	-	4	1125	c.954G>A	c.(952-954)aaG>aaA	p.K318K	GPR83_ENST00000539203.2_Silent_p.K276K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	318					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCGGATGACCTTGCTGGACA	0.517																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(952-954)aaG>aaA		G protein-coupled receptor 83							155	121	132					11																	94113633		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113633C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.954G>A	11.37:g.94113633C>T						GPR83_ENST00000539203.2_Silent_p.K276K	p.K318K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1125	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	318					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.954G>A	CCDS8297.1																																																																																				0.517	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		9	194	0	0	0	1	0	9	194					T	94113633	C	T	94113633	2	4	427	1	0	0	0	0	0	0	0	1	6713	680	24	2		2	GPR83	11	94113633	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	2026190	94113633	40892883	28	36544											
DPAGT1	1798	broad.mit.edu	37	chr11	118968694	118968694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaagatgcccaccacgGcaaaggtcatgccagcaaag	10	14	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:118968694G>A	ENST00000409993.2	-	8	2339	c.788C>T	c.(787-789)gCc>gTc	p.A263V	H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V|DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	263					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCCCACCACGGCAAAGGTCAT	0.532																																						ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(787-789)gCc>gTc		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							191	166	174					11																	118968694		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118968694G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.788C>T	11.37:g.118968694G>A	ENSP00000386597:p.Ala263Val					DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V	p.A263V			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	8	2339	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	263					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.788C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265627	0.95399	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.95853	-3.83;-3.83;-3.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98163	0.9393	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.73380	0.98;0.951	D	0.98223	1.0479	10	0.54805	T	0.06	-41.5507	19.2671	0.93993	0.0:0.0:1.0:0.0	.	156;263	E7EW40;Q9H3H5	.;GPT_HUMAN	V	263;263;156	ENSP00000386597:A263V;ENSP00000346142:A263V;ENSP00000404036:A156V	ENSP00000346142:A263V	A	-	2	0	DPAGT1	118473904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	GCC		0.532	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		5	168	0	0	0	1	0	5	168					A	118968694	G	A	118968694	3	1	427	1	0	0	0	0	1	0	0	0	4710	1203	42	2	454	2	DPAGT1	11	118968694	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	24855061	118968694	16037822	29	36545											
OR10G4	390264	broad.mit.edu	37	chr11	123887129	123887129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgacgccccttctcaAccctgttgtgtacaccctga	8	15	1	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:123887129A>G	ENST00000320891.4	+	1	848	c.848A>G	c.(847-849)aAc>aGc	p.N283S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	283						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)		CCCCTTCTCAACCCTGTTGTG	0.458																																						ENST00000320891.4																			0				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						c.(847-849)aAc>aGc		olfactory receptor, family 10, subfamily G, member 4							96	87	90					11																	123887129		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887129A>G	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.848A>G	11.37:g.123887129A>G	ENSP00000325076:p.Asn283Ser						p.N283S	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	848	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	283					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.848A>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	a	16.32	3.091428	0.55968	.	.	ENSG00000254737	ENST00000320891	T	0.58652	0.32	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.153040	0.30201	N	0.010180	T	0.62270	0.2414	M	0.73217	2.22	0.37306	D	0.908927	P	0.43857	0.819	P	0.46850	0.529	T	0.72915	-0.4147	10	0.87932	D	0	.	11.9412	0.52903	1.0:0.0:0.0:0.0	.	283	Q8NGN3	O10G4_HUMAN	S	283	ENSP00000325076:N283S	ENSP00000325076:N283S	N	+	2	0	OR10G4	123392339	1.000000	0.71417	0.760000	0.31359	0.786000	0.44442	5.957000	0.70323	1.547000	0.49401	0.473000	0.43528	AAC		0.458	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		27	161	0	0	0	1	0	27	161					G	123887129	A	G	123887129	3	3	427	1	0	0	0	0	1	0	0	0	10901	43	2	3	850	3	OR10G4	11	123887129	Missense_Mutation	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08	4918435	123887129	11119387	30	36546											
ABCC9	10060	broad.mit.edu	37	chr12	21997752	21997752	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtggtgaagatttttgGcagctgtgagacccatccat	13	7	0	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:21997752G>C	ENST00000261201.4	-	25	3193	c.3194C>G	c.(3193-3195)gCc>gGc	p.A1065G	ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.A1065G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1065	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)	AAGATTTTTGGCAGCTGTGAG	0.398																																						ENST00000261200.4																			0				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						c.(3193-3195)gCc>gGc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						161	161	161					12																	21997752		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997752G>C	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.3194C>G	12.37:g.21997752G>C	ENSP00000261201:p.Ala1065Gly					ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G|ABCC9_ENST00000261201.4_Missense_Mutation_p.A1065G|RP11-729I10.2_ENST00000539874.1_RNA	p.A1065G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			25	3193	-			1065			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3194C>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563540	0.86335	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.114219	0.64402	D	0.000015	D	0.93835	0.8028	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.957	D;P	0.75484	0.986;0.59	D	0.93959	0.7239	10	0.72032	D	0.01	-10.5081	19.6034	0.95572	0.0:0.0:1.0:0.0	.	1065;1065	O60706;O60706-2	ABCC9_HUMAN;.	G	1065;692;1065;1029	ENSP00000261200:A1065G;ENSP00000440521:A692G;ENSP00000261201:A1065G;ENSP00000261202:A1029G	ENSP00000261200:A1065G	A	-	2	0	ABCC9	21889019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.606000	0.98325	2.623000	0.88846	0.650000	0.86243	GCC		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	191	0	0	0	1	0	7	191					C	21997752	G	C	21997752	3	2	427	1	0	0	0	0	1	0	0	0	59	1203	42	4	1653	4	ABCC9	12	21997752	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		21997752	111854143	31	36547											
APPL2	55198	broad.mit.edu	37	chr12	105593272	105593272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcttgctgggacacccGcatcttttccgcctcggctt	8	14	2	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:105593272G>A	ENST00000258530.3	-	10	967	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGGACACCCGCATCTTTTCC	0.502																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(742-744)Cgg>Tgg		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							113	102	106					12																	105593272		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105593272G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.742C>T	12.37:g.105593272G>A	ENSP00000258530:p.Arg248Trp					APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR	p.R248W	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			10	967	-			248			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.742C>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137834	0.77775	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.04502	3.61;3.61;3.61	5.93	1.71	0.24356	.	0.162995	0.51477	D	0.000092	T	0.18800	0.0451	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.01039	-1.1472	10	0.72032	D	0.01	-4.1232	16.0795	0.80995	0.0:0.0:0.3763:0.6236	.	254;205;248	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	W	248;205;254	ENSP00000258530:R248W;ENSP00000444472:R205W;ENSP00000446917:R254W	ENSP00000258530:R248W	R	-	1	2	APPL2	104117402	1.000000	0.71417	0.987000	0.45799	0.952000	0.60782	1.887000	0.39698	0.355000	0.24131	0.655000	0.94253	CGG		0.502	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		4	142	0	0	0	1	0	4	142					A	105593272	G	A	105593272	3	1	427	1	0	0	0	0	1	0	0	0	818	1086	38	1	1300	1	APPL2	12	105593272	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	83595520	105593272	28258623	32	36548											
WDR66	144406	broad.mit.edu	37	chr12	122399950	122399950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggacattcaccacaccgacCagggctgctatcccacctgc	8	17	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:122399950C>G	ENST00000288912.4	+	15	3228	c.2374C>G	c.(2374-2376)Cag>Gag	p.Q792E	WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	792							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACACCGACCAGGGCTGCTA	0.512																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2374-2376)Cag>Gag		WD repeat domain 66							106	109	108					12																	122399950		1987	4160	6147	SO:0001583	missense	144406						calcium ion binding	g.chr12:122399950C>G	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2374C>G	12.37:g.122399950C>G	ENSP00000288912:p.Gln792Glu					WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E	p.Q792E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	15	3228	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		792					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2374C>G	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107150	0.56291	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.54071	0.59;1.32	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.78456	2.415	0.58432	D	0.999993	D	0.56035	0.974	P	0.58577	0.841	T	0.74022	-0.3798	10	0.54805	T	0.06	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	792	Q8TBY9	WDR66_HUMAN	E	792	ENSP00000288912:Q792E;ENSP00000380595:Q792E	ENSP00000288912:Q792E	Q	+	1	0	WDR66	120884333	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	6.550000	0.73905	2.445000	0.82738	0.555000	0.69702	CAG		0.512	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		119	158	0	0	0	1	0	119	158					G	122399950	C	G	122399950	3	3	427	1	0	0	0	0	1	0	0	0	17314	595	21	4	2428	4	WDR66	12	122399950	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	16806678	122399950	11451945	33	36549											
GPR18	2841	broad.mit.edu	37	chr13	99907196	99907196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcggaaactttttctgcGcatgcttcgaaggtaattac	9	8	1	1	rs374416624		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:99907196G>A	ENST00000340807.3	-	3	1487	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.R311C			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	311					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)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTTTCTGCGCATGCTTCGA	0.378																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(931-933)Cgc>Tgc		G protein-coupled receptor 18	Glycine(DB00145)	G	CYS/ARG,,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138	135	136		931,,931,	6	1	13		136	0,8600		0,0,4300	no	missense,intron,missense,intron	GPR18,UBAC2	NM_001098200.1,NM_001144072.1,NM_005292.3,NM_177967.3	180,,180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,probably-damaging,	311/332,,311/332,	99907196	1,13005	2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907196G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.931C>T	13.37:g.99907196G>A	ENSP00000343428:p.Arg311Cys					GPR18_ENST00000397470.2_Missense_Mutation_p.R311C|GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	p.R311C			Q14330	GPR18_HUMAN			3	1487	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		311					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.931C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178757	0.78564	2.27E-4	0.0	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.38887	1.11;1.11;1.11	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45396	-0.9264	9	.	.	.	-23.1651	20.4387	0.99107	0.0:0.0:1.0:0.0	.	311	Q14330	GPR18_HUMAN	C	311	ENSP00000380613:R311C;ENSP00000380610:R311C;ENSP00000343428:R311C	.	R	-	1	0	GPR18	98705197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.784000	0.68990	2.836000	0.97738	0.655000	0.94253	CGC		0.378	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			4	194	0	0	0	1	0	4	194					A	99907196	G	A	99907196	3	1	427	1	0	0	0	0	1	0	0	0	6675	1087	38	1	68	1	GPR18	13	99907196	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		99907196	15262682	34	36550											
RGS6	9628	broad.mit.edu	37	chr14	72431532	72431532	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaggatccggggatcaAagagcagtgggggttgctga	17	7	2	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr14:72431532A>G	ENST00000553530.1	+	2	231	c.24A>G	c.(22-24)caA>caG	p.Q8Q	RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000355512.6_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	8					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCGGGGATCAAAGAGCAGTGG	0.478																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(22-24)caA>caG		regulator of G-protein signaling 6							99	100	100					14																	72431532		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72431532A>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.24A>G	14.37:g.72431532A>G						RGS6_ENST00000355512.6_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q	p.Q8Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	2	231	+			8					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.24A>G	CCDS9808.1																																																																																				0.478	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			50	84	0	0	0	1	0	50	84					G	72431532	A	G	72431532	2	3	427	1	0	0	0	0	0	0	0	1	13309	11	1	3		3	RGS6	14	72431532	Silent	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08		72431532	34918008	35	36551											
MSLN	10232	broad.mit.edu	37	chr16	815715	815715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggccgcgtggcggcaaCgctcctctcgggacccatcc	13	17	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:815715C>T	ENST00000382862.3	+	10	915	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MSLN_ENST00000563941.1_Missense_Mutation_p.R274C|MSLN_ENST00000566549.1_Missense_Mutation_p.R274C|MSLN_ENST00000545450.2_Missense_Mutation_p.R274C	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	274	Required for megakaryocyte-potentiating factor activity.				cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGCGGCAACGCTCCTCTCG	0.711																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(820-822)Cgc>Tgc		mesothelin							22	26	25					16																	815715		2177	4282	6459	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815715C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.820C>T	16.37:g.815715C>T	ENSP00000372313:p.Arg274Cys					MSLN_ENST00000545450.2_Missense_Mutation_p.R274C|MSLN_ENST00000382862.3_Missense_Mutation_p.R274C|MSLN_ENST00000563941.1_Missense_Mutation_p.R274C	p.R274C			Q13421	MSLN_HUMAN			10	1237	+		Hepatocellular(780;0.00335)	274			Required for megakaryocyte-potentiating factor activity.		D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.820C>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783791	0.49891	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12984	2.63;2.63	4.67	1.52	0.23074	.	0.955851	0.08693	U	0.907556	T	0.24044	0.0582	L	0.48642	1.525	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.62382	0.83;0.894;0.901;0.83	T	0.19353	-1.0308	10	0.36615	T	0.2	-1.988	7.0165	0.24890	0.0:0.5431:0.3598:0.0971	.	273;274;274;274	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	C	274	ENSP00000442965:R274C;ENSP00000372313:R274C	ENSP00000372313:R274C	R	+	1	0	MSLN	755716	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.327000	0.19663	0.129000	0.18514	0.551000	0.68910	CGC		0.711	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			29	31	0	0	0	1	0	29	31					T	815715	C	T	815715	3	4	427	1	0	0	0	0	1	0	0	0	9881	536	19	1	854	1	MSLN	16	815715	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		815715	89539038	36	36552											
PPL	5493	broad.mit.edu	37	chr16	4934297	4934297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctctcgcgcctgctgCgggtcctgctgcagcaccac	12	17	1	0	rs189264388		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:4934297C>T	ENST00000345988.2	-	22	4448	c.4359G>A	c.(4357-4359)ccG>ccA	p.P1453P	PPL_ENST00000590782.2_Silent_p.P1451P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1453					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGCCTGCTGCGGGTCCTGCT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17169	0.001		0.0	False		,,,				2504	0.0					ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4357-4359)ccG>ccA		periplakin							69	68	68					16																	4934297		2191	4295	6486	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934297C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4359G>A	16.37:g.4934297C>T						PPL_ENST00000590782.2_Silent_p.P1451P	p.P1453P	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4448	-			1453					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4359G>A	CCDS10526.1																																																																																				0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	251	0	0	0	1	0	4	251					T	4934297	C	T	4934297	2	4	427	1	0	0	0	0	0	0	0	1	12334	755	27	1		1	PPL	16	4934297	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	4118582	4934297	85420456	37	36553											
GSG2	83903	broad.mit.edu	37	chr17	3627984	3627984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttggccttatgaactcagGaacccctgaggattctgagt	10	10	2	3	rs372523388		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:3627984G>A	ENST00000325418.4	+	1	774	c.755G>A	c.(754-756)gGa>gAa	p.G252E	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	252					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)										ATGAACTCAGGAACCCCTGAG	0.552																																						ENST00000325418.4																			0											c.(754-756)gGa>gAa		germ cell associated 2 (haspin)							67	79	75					17																	3627984		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3627984G>A	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.755G>A	17.37:g.3627984G>A	ENSP00000325290:p.Gly252Glu					ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	p.G252E	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	774	+			252					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.755G>A	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380959	0.61845	.	.	ENSG00000177602	ENST00000325418	T	0.06294	3.32	3.95	2.98	0.34508	.	0.181712	0.26832	N	0.022262	T	0.04724	0.0128	L	0.27053	0.805	0.09310	N	1	P	0.37781	0.608	B	0.33568	0.166	T	0.34254	-0.9836	10	0.87932	D	0	-11.9535	9.3281	0.38005	0.1048:0.0:0.8952:0.0	.	252	Q8TF76	HASP_HUMAN	E	252	ENSP00000325290:G252E	ENSP00000325290:G252E	G	+	2	0	GSG2	3574733	0.005000	0.15991	0.037000	0.18230	0.059000	0.15707	1.311000	0.33562	1.222000	0.43521	0.655000	0.94253	GGA		0.552	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		63	76	0	0	0	1	0	63	76					A	3627984	G	A	3627984	3	1	427	1	0	0	0	0	1	0	0	0	6822	1174	41	2	757	2	GSG2	17	3627984	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		3627984	77567226	38	36554											
AKAP1	8165	broad.mit.edu	37	chr17	55183906	55183906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgatctcagaagcaaccGaacaggtgctggccaccacg	11	12	1	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:55183906G>A	ENST00000337714.3	+	2	1314	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	361					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGAAGCAACCGAACAGGTGCT	0.537																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(1081-1083)Gaa>Aaa		A kinase (PRKA) anchor protein 1							85	91	89					17																	55183906		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183906G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1081G>A	17.37:g.55183906G>A	ENSP00000337736:p.Glu361Lys					AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K	p.E361K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1314	+	Breast(9;5.46e-08)		361					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.1081G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014748	0.75161	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.42900	2.05;0.96;2.05	5.94	5.94	0.96194	.	0.104499	0.64402	D	0.000003	T	0.65260	0.2674	M	0.72894	2.215	0.41280	D	0.986905	D	0.89917	1.0	D	0.80764	0.994	T	0.66212	-0.5980	10	0.66056	D	0.02	-22.5362	17.5151	0.87771	0.0:0.0:1.0:0.0	.	361	Q92667	AKAP1_HUMAN	K	361;361;403;361	ENSP00000337736:E361K;ENSP00000314075:E361K;ENSP00000443139:E361K	ENSP00000314075:E361K	E	+	1	0	AKAP1	52538905	1.000000	0.71417	0.966000	0.40874	0.251000	0.25915	4.955000	0.63638	2.816000	0.96949	0.561000	0.74099	GAA		0.537	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			4	143	0	0	0	1	0	4	143					A	55183906	G	A	55183906	3	1	427	1	0	0	0	0	1	0	0	0	445	1059	37	1	1083	1	AKAP1	17	55183906	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	51555922	55183906	26011304	39	36555											
SLC16A3	9123	broad.mit.edu	37	chr17	80195354	80195354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttacgccgtggccgcctcGgtcatggtgctggggctctt	14	13	2	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:80195354G>A	ENST00000581287.1	+	3	3030	c.708G>A	c.(706-708)tcG>tcA	p.S236S	SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	236					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)	TGGCCGCCTCGGTCATGGTGC	0.716																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(706-708)tcG>tcA		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						22	24	23					17																	80195354		2195	4297	6492	SO:0001819	synonymous_variant	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195354G>A	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.708G>A	17.37:g.80195354G>A						SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S	p.S236S	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	3030	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		236					B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	37	c.708G>A	CCDS11804.1																																																																																				0.716	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		16	23	0	0	0	1	0	16	23					A	80195354	G	A	80195354	2	1	427	1	0	0	0	0	0	0	0	1	14409	1103	39	1		1	SLC16A3	17	80195354	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	25011448	80195354	999856	40	36556											
ASF1B	55723	broad.mit.edu	37	chr19	14231314	14231314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggaggaggccagggatgCagccagggagccccaagccc	17	13	0	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:14231314C>A	ENST00000263382.3	-	4	1065	c.566G>T	c.(565-567)tGc>tTc	p.C189F	PRKACA_ENST00000590853.1_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|PRKACA_ENST00000308677.4_5'Flank|ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	189					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GCCAGGGATGCAGCCAGGGAG	0.642																																						ENST00000263382.3																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(565-567)tGc>tTc		anti-silencing function 1B histone chaperone							55	57	57					19																	14231314		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14231314C>A	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.566G>T	19.37:g.14231314C>A	ENSP00000263382:p.Cys189Phe					ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F	p.C189F	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN			4	1065	-			189					Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.566G>T	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	C	6.191	0.403470	0.11754	.	.	ENSG00000105011	ENST00000263382	.	.	.	4.93	1.15	0.20763	.	0.538187	0.18089	N	0.152048	T	0.21881	0.0527	N	0.14661	0.345	0.28342	N	0.921312	B	0.16802	0.019	B	0.09377	0.004	T	0.12889	-1.0530	9	0.33940	T	0.23	.	7.2357	0.26067	0.0:0.5825:0.3171:0.1004	.	189	Q9NVP2	ASF1B_HUMAN	F	189	.	ENSP00000263382:C189F	C	-	2	0	ASF1B	14092314	0.001000	0.12720	0.330000	0.25442	0.350000	0.29205	-0.019000	0.12546	0.401000	0.25424	-0.367000	0.07326	TGC		0.642	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		11	52	1	0	1.77063e-15	1	1.80116e-15	11	52					A	14231314	C	A	14231314	3	1	427	1	0	0	0	0	1	0	0	0	1038	710	25	4	46	4	ASF1B	19	14231314	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		14231314	44897669	41	36557											
CIC	23152	broad.mit.edu	37	chr19	42792003	42792003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacccagattggaagtgGtgcaacaaggaccgaaagaa	12	10	0	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:42792003G>A	ENST00000575354.2	+	6	847	c.807G>A	c.(805-807)tgG>tgA	p.W269*	CIC_ENST00000160740.3_Nonsense_Mutation_p.W269*|CIC_ENST00000572681.2_Nonsense_Mutation_p.W1178*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269					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)				ATTGGAAGTGGTGCAACAAGG	0.632			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3532-3534)tgG>tgA		capicua transcriptional repressor							35	32	33					19																	42792003		2202	4300	6502	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792003G>A	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.807G>A	19.37:g.42792003G>A	ENSP00000458663:p.Trp269*					CIC_ENST00000575354.2_Nonsense_Mutation_p.W269*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W269*	p.W1178*			Q96RK0	CIC_HUMAN			7	3602	+		Prostate(69;0.00682)	269			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3534G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	41	8.585309	0.98875	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.989	14.9544	0.71101	0.0:0.0:1.0:0.0	.	.	.	.	X	269	.	ENSP00000160740:W269X	W	+	3	0	CIC	47483843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.836000	0.86788	2.391000	0.81399	0.555000	0.69702	TGG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	6	0	0	0	1	0	15	6					A	42792003	G	A	42792003	4	1	427	1	0	0	0	0	0	1	0	0	3424	1270	44	2	829	2	CIC	19	42792003	Nonsense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	28560689	42792003	16336980	42	36558											
DHX34	9704	broad.mit.edu	37	chr19	47883203	47883203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccccaaggaggtggcCaccctgagcaaggaactcct	12	14	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:47883203C>T	ENST00000328771.4	+	14	3292	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	981					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)		AGGAGGTGGCCACCCTGAGCA	0.662																																						ENST00000328771.4																			0				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						c.(2941-2943)gcC>gcT		DEAH (Asp-Glu-Ala-His) box polypeptide 34							60	51	54					19																	47883203		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883203C>T	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.2943C>T	19.37:g.47883203C>T							p.A981A	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3292	+		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)	981					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2943C>T	CCDS12700.1																																																																																				0.662	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		4	38	0	0	0	1	0	4	38					T	47883203	C	T	47883203	2	4	427	1	0	0	0	0	0	0	0	1	4507	581	21	2		2	DHX34	19	47883203	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	5091200	47883203	11245780	43	36559											
U2AF2	11338	broad.mit.edu	37	chr19	56181020	56181020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtccatcgagatccccCggcctgtggacggcgtcgag	13	14	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:56181020C>T	ENST00000308924.4	+	11	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.R415W|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|CTD-2537I9.13_ENST00000592252.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	419	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGAGATCCCCCGGCCTGTGGA	0.657																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(1243-1245)Cgg>Tgg		U2 small nuclear RNA auxiliary factor 2							122	110	114					19																	56181020		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56181020C>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1255C>T	19.37:g.56181020C>T	ENSP00000307863:p.Arg419Trp					CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|U2AF2_ENST00000308924.4_Missense_Mutation_p.R419W|CTD-2537I9.12_ENST00000589456.1_RNA	p.R415W	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2202	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	419			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1243C>T	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574250	0.86542	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.18016	2.24;2.24	4.19	2.06	0.26882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.50394	0.1613	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58544	-0.7618	10	0.87932	D	0	-21.9246	9.2102	0.37313	0.0:0.8169:0.0:0.1831	.	419;415	P26368;P26368-2	U2AF2_HUMAN;.	W	419;415	ENSP00000307863:R419W;ENSP00000388475:R415W	ENSP00000307863:R419W	R	+	1	2	U2AF2	60872832	1.000000	0.71417	0.955000	0.39395	0.963000	0.63663	5.360000	0.66086	0.550000	0.28991	0.655000	0.94253	CGG		0.657	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		27	17	0	0	0	1	0	27	17					T	56181020	C	T	56181020	3	4	427	1	0	0	0	0	1	0	0	0	16820	643	23	1	1297	1	U2AF2	19	56181020	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	8297817	56181020	2947963	44	36560											
CSNK2A1	1457	broad.mit.edu	37	chr20	480554	480554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaaatctttatttcacGcttaattttcttctttttta	1	9	4	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr20:480554G>A	ENST00000217244.3	-	5	613	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTTATTTCACGCTTAATTTTC	0.343																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(238-240)Cgt>Tgt		casein kinase 2, alpha 1 polypeptide							109	114	112					20																	480554		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:480554G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.238C>T	20.37:g.480554G>A	ENSP00000217244:p.Arg80Cys					CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000400217.1_5'UTR	p.R80C	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		5	613	-		Breast(17;0.231)	80			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.238C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031547	0.75504	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.08984	3.03;3.03;3.03	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049175	0.85682	D	0.000000	T	0.49729	0.1574	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72347	-0.4321	10	0.87932	D	0	-4.6753	17.9081	0.88926	0.0:0.0:1.0:0.0	.	80	P68400	CSK21_HUMAN	C	80	ENSP00000383086:R80C;ENSP00000339247:R80C;ENSP00000217244:R80C	ENSP00000217244:R80C	R	-	1	0	CSNK2A1	428554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.413000	0.73308	2.717000	0.92951	0.655000	0.94253	CGT		0.343	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	281	0	0	0	1	0	5	281					A	480554	G	A	480554	3	1	427	1	0	0	0	0	1	0	0	0	3957	1087	38	1	977	1	CSNK2A1	20	480554	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		480554	62544966	45	36561											
SSX5	6758	broad.mit.edu	37	chrX	48053616	48053616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcattcccctggaagtctgCgacccgtttattacgcatga	8	12	2	1	rs200600341		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chrX:48053616C>T	ENST00000376923.1	-	3	228	c.229G>A	c.(229-231)Gca>Aca	p.A77T	SSX5_ENST00000311798.1_Missense_Mutation_p.A118T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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						TGGAAGTCTGCGACCCGTTTA	0.488													.|||	1	0.000264901	0.0	0.0	3775	,	,		12192	0.0		0.001	False		,,,				2504	0.0					ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(352-354)Gca>Aca		synovial sarcoma, X breakpoint 5							157	137	144					X																	48053616		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053616C>T	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.229G>A	X.37:g.48053616C>T	ENSP00000366122:p.Ala77Thr					SSX5_ENST00000376923.1_Missense_Mutation_p.A77T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T	p.A118T	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	404	-			77					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.352G>A	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.331428	0.00227	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.10005	2.92;2.94;2.94	1.5	-2.99	0.05497	Krueppel-associated box (2);Krueppel-associated box-related (1);	2.124530	0.02163	N	0.058982	T	0.03136	0.0092	N	0.01410	-0.885	0.09310	N	1	B;B	0.15473	0.001;0.013	B;B	0.15052	0.002;0.012	T	0.36601	-0.9741	10	0.05833	T	0.94	.	6.2513	0.20848	0.0:0.5991:0.0:0.4009	.	77;118	O60225;O60225-2	SSX5_HUMAN;.	T	118;77;77	ENSP00000312415:A118T;ENSP00000366122:A77T;ENSP00000290558:A77T	ENSP00000312415:A118T	A	-	1	0	SSX5	47938560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.551000	0.00928	-1.105000	0.03011	-1.607000	0.00807	GCA		0.488	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		137	23	0	0	0	1	0	137	23					T	48053616	C	T	48053616	3	4	427	1	0	0	0	0	1	0	0	0	15207	768	27	1	353	1	SSX5	23	48053616	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		48053616	107216944	46	36562											
PCSK9	255738	broad.mit.edu	37	chr1	55523717	55523717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcaccaggcattgcaGccatgatgctgtctgccgag	11	15	1	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:55523717G>A	ENST00000302118.5	+	8	1479	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	397	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						AGGCATTGCAGCCATGATGCT	0.602																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1189-1191)Gcc>Acc		proprotein convertase subtilisin/kexin type 9							67	62	64					1																	55523717		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523717G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1189G>A	1.37:g.55523717G>A	ENSP00000303208:p.Ala397Thr					PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T	p.A397T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			8	1479	+			397			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1189G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606022	0.46527	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.90133	-2.62;-2.62	4.39	2.47	0.30058	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.127468	0.50627	N	0.000102	D	0.90259	0.6954	M	0.88775	2.98	0.29152	N	0.878326	B	0.28419	0.211	B	0.26310	0.068	D	0.84686	0.0720	10	0.51188	T	0.08	-15.9575	9.4212	0.38553	0.08:0.1448:0.7752:0.0	.	397	Q8NBP7	PCSK9_HUMAN	T	397;197	ENSP00000303208:A397T;ENSP00000441859:A197T	ENSP00000303208:A397T	A	+	1	0	PCSK9	55296305	0.973000	0.33851	0.001000	0.08648	0.089000	0.18198	2.531000	0.45650	0.382000	0.24878	0.563000	0.77884	GCC		0.602	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		4	104	0	0	0	1	0	4	104					A	55523717	G	A	55523717	3	1	428	1	0	0	0	0	1	0	0	0	11606	971	34	2	1219	2	PCSK9	1	55523717	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		55523717	193726904	1	36563											
KCNK2	3776	broad.mit.edu	37	chr1	215408391	215408391	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccagcgagagggatgTcttgcctcccttactgaaga	11	12	1	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408391T>G	ENST00000444842.2	+	7	1334	c.1184T>G	c.(1183-1185)gTc>gGc	p.V395G	KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G|KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	395	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				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)	GAGAGGGATGTCTTGCCTCCC	0.512																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1183-1185)gTc>gGc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						124	121	122					1																	215408391		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408391T>G	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.1184T>G	1.37:g.215408391T>G	ENSP00000394033:p.Val395Gly					KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G|KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G	p.V395G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1334	+			395			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1184T>G	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515905	0.27123	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.21191	2.02;2.03;2.02	5.72	4.6	0.57074	.	0.594677	0.18210	N	0.148235	T	0.11922	0.0290	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.09377	0.004;0.004;0.0	T	0.20207	-1.0282	10	0.52906	T	0.07	.	11.3975	0.49851	0.0:0.0705:0.0:0.9295	.	380;395;391	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	G	391;380;395	ENSP00000375765:V391G;ENSP00000375764:V380G;ENSP00000394033:V395G	ENSP00000375764:V380G	V	+	2	0	KCNK2	213475014	0.627000	0.27129	0.784000	0.31847	0.987000	0.75469	1.456000	0.35201	1.008000	0.39264	0.459000	0.35465	GTC		0.512	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		27	155	0	0	0	1	0	27	155					G	215408391	T	G	215408391	3	3	428	1	0	0	0	0	1	0	0	0	8066	1667	58	5	1253	5	KCNK2	1	215408391	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	159884674	215408391	33842230	2	36564			1	44		2	2	30	N	T_A	5.245892e-05
KCNK2	3776	broad.mit.edu	37	chr1	215408420	215408420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttactgaagactgagagtAtctatctgaatggtttgacg	10	7	2	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408420A>T	ENST00000444842.2	+	7	1363	c.1213A>T	c.(1213-1215)Atc>Ttc	p.I405F	KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F|KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	405	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				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)	GACTGAGAGTATCTATCTGAA	0.473																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1213-1215)Atc>Ttc		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						140	138	139					1																	215408420		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408420A>T	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.1213A>T	1.37:g.215408420A>T	ENSP00000394033:p.Ile405Phe					KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F|KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F	p.I405F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1363	+			405			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1213A>T	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798772	0.50208	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.23552	1.91;1.92;1.9	5.72	5.72	0.89469	.	0.391554	0.28736	N	0.014313	T	0.18593	0.0446	N	0.14661	0.345	0.49687	D	0.999811	B;B;B	0.28636	0.218;0.139;0.218	B;B;B	0.28011	0.085;0.039;0.085	T	0.05354	-1.0890	10	0.52906	T	0.07	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	390;405;401	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	F	401;390;405	ENSP00000375765:I401F;ENSP00000375764:I390F;ENSP00000394033:I405F	ENSP00000375764:I390F	I	+	1	0	KCNK2	213475043	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.187000	0.58344	2.186000	0.69663	0.459000	0.35465	ATC		0.473	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		32	184	0	0	0	1	0	32	184					T	215408420	A	T	215408420	3	4	428	1	0	0	0	0	1	0	0	0	8066	449	16	5	1282	5	KCNK2	1	215408420	Missense_Mutation	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08	29	215408420	33842201	3	36565			1	44		2	2	30	N	T_A	5.245892e-05
TGOLN2	10618	broad.mit.edu	37	chr2	85554633	85554633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtcttctggggtctgCgcctccgcactcgacttgct	14	13	3	0	rs556852343		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:85554633C>T	ENST00000409232.3	-	2	283	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000377386.3_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783). {ECO:0000305}.		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)											CTGGGGTCTGCGCCTCCGCAC	0.607																																						ENST00000377386.3																			0											c.(220-222)gcG>gcA		trans-golgi network protein 2							175	176	176					2																	85554633		1949	4138	6087	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554633C>T	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.222G>A	2.37:g.85554633C>T						TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A74A	p.A74A			O43493	TGON2_HUMAN			2	684	-			74	A -> P (in Ref. 4; BAD96783).		14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.222G>A	CCDS56126.1																																																																																				0.607	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	715	0	0	0	1	0	7	715					T	85554633	C	T	85554633	2	4	428	1	0	0	0	0	0	0	0	1	15833	755	27	1		1	TGOLN2	2	85554633	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		85554633	157644740	4	36566											
GLI2	2736	broad.mit.edu	37	chr2	121685032	121685032	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagcctcattctgtccacGgtgtgcacgggtaagtcctg	12	12	2	0	rs531807595		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:121685032G>A	ENST00000314490.11	+	0	274				GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTGTCCACGGTGTGCACGG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17852	0.0		0.0	False		,,,				2504	0.001					ENST00000314490.11																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64								GLI family zinc finger 2							227	177	194					2																	121685032		2203	4300	6503			2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121685032G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000314490.11:c.-741G>A	2.37:g.121685032G>A						GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S|GLI2_ENST00000435313.2_3'UTR				P10070	GLI2_HUMAN			0	274	+	Renal(3;0.0496)	Prostate(154;0.0623)							Translation_Start_Site	SNP	ENST00000314490.11	37			.	.	.	.	.	.	.	.	.	.	G	13.51	2.259491	0.39995	.	.	ENSG00000074047	ENST00000418323;ENST00000452319;ENST00000361492;ENST00000440937;ENST00000360874	T;T;T	0.68479	-0.33;-0.33;-0.33	5.24	0.807	0.18714	.	0.697293	0.13212	N	0.405070	T	0.35307	0.0927	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.25007	0.003;0.041;0.001;0.116	B;B;B;B	0.12837	0.007;0.005;0.0;0.008	T	0.05354	-1.0890	10	0.20519	T	0.43	.	10.7495	0.46200	0.2698:0.0:0.7302:0.0	.	82;82;82;82	B4DT63;P10070;Q0VGA0;F5H4D9	.;GLI2_HUMAN;.;.	S	82;82;82;82;74	ENSP00000390436:G82S;ENSP00000354586:G82S;ENSP00000441454:G74S	ENSP00000441454:G74S	G	+	1	0	GLI2	121401502	1.000000	0.71417	0.454000	0.27019	0.943000	0.58893	1.678000	0.37586	-0.163000	0.10946	0.563000	0.77884	GGT		0.622	GLI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005270		35	212	0	0	0	1	0	35	212					A	121685032	G	A	121685032	1	1	428	1	0	1	0	0	0	0	0	0	6438	1116	39	1		1	GLI2	2	121685032	De_novo_Start_OutOfFrame	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	36130399	121685032	121514341	5	36567											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			75	99	0	0	0	1	0	75	99					T	209113112	C	T	209113112	3	4	428	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	87428080	209113112	34086261	6	36568											
IRS1	3667	broad.mit.edu	37	chr2	227662549	227662549	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgctctcagtgcgtgaTcggcgggtcagccccacctg	14	13	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:227662549T>G	ENST00000305123.5	-	1	1926	c.906A>C	c.(904-906)cgA>cgC	p.R302R	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	302	Ser-rich.				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)		CAGTGCGTGATCGGCGGGTCA	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				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						c.(904-906)cgA>cgC		insulin receptor substrate 1							44	54	51					2																	227662549		2194	4274	6468	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662549T>G		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.906A>C	2.37:g.227662549T>G			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R302R	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1926	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	302			Ser-rich.			Silent	SNP	ENST00000305123.5	37	c.906A>C	CCDS2463.1																																																																																				0.682	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		29	135	0	0	0	1	0	29	135					G	227662549	T	G	227662549	2	3	428	1	0	0	0	0	0	0	0	1	7840	1422	50	5		5	IRS1	2	227662549	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	18549437	227662549	15536824	7	36569											
AGAP1	116987	broad.mit.edu	37	chr2	236708060	236708060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattcctcctccgttccatCgactcccagcaccagccaga	5	19	0	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:236708060C>T	ENST00000304032.8	+	8	1431	c.851C>T	c.(850-852)tCg>tTg	p.S284L	AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L|AGAP1_ENST00000409538.1_Missense_Mutation_p.S549L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	284					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCGTTCCATCGACTCCCAGC	0.517																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1645-1647)tCg>tTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							84	77	79					2																	236708060		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236708060C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.851C>T	2.37:g.236708060C>T	ENSP00000307634:p.Ser284Leu					AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L|AGAP1_ENST00000304032.7_Missense_Mutation_p.S284L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L	p.S549L			Q9UPQ3	AGAP1_HUMAN			8	2142	+			284			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1646C>T	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833118	0.71258	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.50922	0.1644	L	0.55743	1.74	0.80722	D	1	D;B	0.76494	0.999;0.349	D;B	0.65987	0.94;0.034	T	0.46775	-0.9167	10	0.46703	T	0.11	.	18.7434	0.91782	0.0:1.0:0.0:0.0	.	284;284	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	284;284;284;549;123	ENSP00000387174:S284L;ENSP00000307634:S284L;ENSP00000338378:S284L;ENSP00000386897:S549L;ENSP00000411824:S123L	ENSP00000307634:S284L	S	+	2	0	AGAP1	236372799	1.000000	0.71417	0.333000	0.25482	0.802000	0.45316	7.697000	0.84279	2.430000	0.82344	0.655000	0.94253	TCG		0.517	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		4	162	0	0	0	1	0	4	162					T	236708060	C	T	236708060	3	4	428	1	0	0	0	0	1	0	0	0	366	893	31	1	881	1	AGAP1	2	236708060	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	9045511	236708060	6491313	8	36570											
OSBPL10	114884	broad.mit.edu	37	chr3	31774883	31774883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaatgtgacttggaccCgtgccatcccaggatgtttt	12	9	0	1	rs143778028		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:31774883C>T	ENST00000396556.2	-	6	1083	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	321					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.G321W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACTTGGACCCGTGCCATCCC	0.413																																						ENST00000396556.2																			2	Substitution - Missense(2)	p.G321W(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(961-963)Ggg>Agg		oxysterol binding protein-like 10		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	156	149	152		769,961	4.8	1	3	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OSBPL10	NM_001174060.1,NM_017784.4	125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	257/701,321/765	31774883	1,13005	2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31774883C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.961G>A	3.37:g.31774883C>T	ENSP00000379804:p.Gly321Arg					OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R	p.G321R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	6	1083	-			321					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.961G>A	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862968	0.32884	0.0	1.16E-4	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.44083	1.99;2.28;0.93	5.67	4.79	0.61399	.	0.349974	0.36374	N	0.002636	T	0.33000	0.0848	L	0.50333	1.59	0.36837	D	0.887184	B;B;B	0.32467	0.372;0.028;0.004	B;B;B	0.22386	0.039;0.009;0.004	T	0.27400	-1.0075	10	0.16896	T	0.51	-32.2675	14.0177	0.64533	0.0:0.9242:0.0:0.0758	.	257;321;89	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	R	321;257;129	ENSP00000379804:G321R;ENSP00000406124:G257R;ENSP00000399200:G129R	ENSP00000379804:G321R	G	-	1	0	OSBPL10	31749887	0.990000	0.36364	0.996000	0.52242	0.980000	0.70556	2.664000	0.46783	2.686000	0.91538	0.561000	0.74099	GGG		0.413	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	365	0	0	0	1	0	6	365					T	31774883	C	T	31774883	3	4	428	1	0	0	0	0	1	0	0	0	11275	652	23	1	1361	1	OSBPL10	3	31774883	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		31774883	166247547	9	36571											
TRANK1	9881	broad.mit.edu	37	chr3	36896948	36896948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggagcaccctgagcttcGacagcctccgggatatgttg	13	11	0	1	rs199834799		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36896948G>A	ENST00000429976.2	-	12	4380	c.4133C>T	c.(4132-4134)tCg>tTg	p.S1378L	TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1378							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGAGCTTCGACAGCCTCCG	0.488																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4132-4134)tCg>tTg		tetratricopeptide repeat and ankyrin repeat containing 1		G	LEU/SER	0,4102		0,0,2051	123	125	124		4133	4.2	1	3		124	1,8387		0,1,4193	yes	missense	TRANK1	NM_014831.2	145	0,1,6244	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	1378/2926	36896948	1,12489	2051	4194	6245	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896948G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4133C>T	3.37:g.36896948G>A	ENSP00000416168:p.Ser1378Leu					TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L	p.S1378L			O15050	TRNK1_HUMAN			12	4380	-			1378					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4133C>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716569	0.30413	0.0	1.19E-4	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82344	-1.6;-1.6;-1.6	5.06	4.18	0.49190	.	0.269718	0.26578	N	0.023600	T	0.73885	0.3644	L	0.28115	0.83	0.40570	D	0.981293	B	0.17268	0.021	B	0.15052	0.012	T	0.70821	-0.4768	10	0.45353	T	0.12	.	14.0642	0.64819	0.0739:0.0:0.9261:0.0	.	1378	O15050	TRNK1_HUMAN	L	828;1378;828	ENSP00000416826:S828L;ENSP00000416168:S1378L;ENSP00000301807:S828L	ENSP00000301807:S828L	S	-	2	0	TRANK1	36871952	0.835000	0.29415	0.988000	0.46212	0.963000	0.63663	3.640000	0.54350	1.454000	0.47793	0.561000	0.74099	TCG		0.488	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		115	196	0	0	0	1	0	115	196					A	36896948	G	A	36896948	3	1	428	1	0	0	0	0	1	0	0	0	16451	1059	37	1	4692	1	TRANK1	3	36896948	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	5122065	36896948	161125482	10	36572											
TRANK1	9881	broad.mit.edu	37	chr3	36899337	36899337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcatctttgccctcttTgttcttcagattgaagttga	8	10	4	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36899337T>C	ENST00000429976.2	-	12	1991	c.1744A>G	c.(1744-1746)Aaa>Gaa	p.K582E	TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	582							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCCCTCTTTGTTCTTCAGA	0.512																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(1744-1746)Aaa>Gaa		tetratricopeptide repeat and ankyrin repeat containing 1							130	125	126					3																	36899337		1984	4176	6160	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899337T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1744A>G	3.37:g.36899337T>C	ENSP00000416168:p.Lys582Glu					TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E	p.K582E			O15050	TRNK1_HUMAN			12	1991	-			582					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.1744A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817664	0.90790	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.54866	1.93;0.55;1.93	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.109140	0.39544	N	0.001324	T	0.48768	0.1518	L	0.49126	1.545	0.46011	D	0.998815	P	0.42871	0.792	B	0.37731	0.257	T	0.54403	-0.8299	10	0.56958	D	0.05	.	16.0918	0.81094	0.0:0.0:0.0:1.0	.	582	O15050	TRNK1_HUMAN	E	32;582;32	ENSP00000416826:K32E;ENSP00000416168:K582E;ENSP00000301807:K32E	ENSP00000301807:K32E	K	-	1	0	TRANK1	36874341	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.093000	0.71422	2.274000	0.75844	0.533000	0.62120	AAA		0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	273	0	0	0	1	0	5	273					C	36899337	T	C	36899337	3	2	428	1	0	0	0	0	1	0	0	0	16451	1821	63	3	7081	3	TRANK1	3	36899337	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	2389	36899337	161123093	11	36573											
MCCC1	56922	broad.mit.edu	37	chr3	182804549	182804549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctctgctgggagggagCggggccgatggaatatgctt	18	7	1	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:182804549C>T	ENST00000265594.4	-	4	447	c.301G>A	c.(301-303)Gct>Act	p.A101T	MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	101	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGGAGGGAGCGGGGCCGATG	0.453																																						ENST00000265594.4																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(301-303)Gct>Act		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						85	73	77					3																	182804549		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182804549C>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.301G>A	3.37:g.182804549C>T	ENSP00000265594:p.Ala101Thr					MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	p.A101T	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		4	447	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		101			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.301G>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298128	0.60086	.	.	ENSG00000078070	ENST00000265594;ENST00000476176;ENST00000448585	D;D	0.92348	-3.02;-3.02	5.5	5.5	0.81552	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.146696	0.64402	D	0.000010	D	0.96250	0.8777	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.957	D	0.95938	0.8944	10	0.51188	T	0.08	.	18.991	0.92793	0.0:1.0:0.0:0.0	.	54;101	E9PG35;Q96RQ3	.;MCCA_HUMAN	T	101;54;54	ENSP00000265594:A101T;ENSP00000420433:A54T	ENSP00000265594:A101T	A	-	1	0	MCCC1	184287243	0.997000	0.39634	0.388000	0.26195	0.128000	0.20619	3.463000	0.53050	2.601000	0.87937	0.563000	0.77884	GCT		0.453	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		26	33	0	0	0	1	0	26	33					T	182804549	C	T	182804549	3	4	428	1	0	0	0	0	1	0	0	0	9374	768	27	1	1940	1	MCCC1	3	182804549	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	145905212	182804549	15217881	12	36574											
EPHA5	2044	broad.mit.edu	37	chr4	66213865	66213865	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacatcactggcagaagtAaactttcggaaagctattgc	9	9	1	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:66213865A>G	ENST00000273854.3	-	15	3165	c.2565T>C	c.(2563-2565)ttT>ttC	p.F855F	EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F|EPHA5_ENST00000432638.2_Silent_p.F692F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	855	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						TGGCAGAAGTAAACTTTCGGA	0.388										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.(2563-2565)ttT>ttC		EPH receptor A5							142	138	139					4																	66213865		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66213865A>G	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.2565T>C	4.37:g.66213865A>G		TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F|EPHA5_ENST00000432638.2_Silent_p.F692F	p.F855F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			15	3165	-			855			Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2565T>C	CCDS3513.1																																																																																				0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		4	204	0	0	0	1	0	4	204					G	66213865	A	G	66213865	2	3	428	1	0	0	0	0	0	0	0	1	5170	359	13	3		3	EPHA5	4	66213865	Silent	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08		66213865	124940411	13	36575											
C4orf35	85438	broad.mit.edu	37	chr4	71201164	71201164	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttctttaatagatttttcCactgacatagcaaaagaaga	6	6	1	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:71201164C>G	ENST00000273936.5	+	1	482	c.408C>G	c.(406-408)tcC>tcG	p.S136S		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	136					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGATTTTTCCACTGACATAG	0.383																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(406-408)tcC>tcG		calcium-binding protein, spermatid-specific 1							56	55	55					4																	71201164		2203	4297	6500	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201164C>G	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.408C>G	4.37:g.71201164C>G							p.S136S	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	467	+			136					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.408C>G	CCDS3539.1																																																																																				0.383	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		22	103	0	0	0	1	0	22	103					G	71201164	C	G	71201164	2	3	428	1	0	0	0	0	0	0	0	1	2265	581	21	4		4	C4orf35	4	71201164	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	4987299	71201164	119953112	14	36576											
DDX60	55601	broad.mit.edu	37	chr4	169183842	169183842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attattatttacctgggcccGaggccaacttttccaaattt	6	10	0	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:169183842G>A	ENST00000393743.3	-	23	3427	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046					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)		ACCTGGGCCCGAGGCCAACTT	0.378																																						ENST00000393743.3																			0				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						c.(3136-3138)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							83	89	87					4																	169183842		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169183842G>A	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.3136C>T	4.37:g.169183842G>A	ENSP00000377344:p.Arg1046Trp					DDX60_ENST00000505393.1_5'UTR	p.R1046W	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	23	3427	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1046					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3136C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626588	0.28978	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.18810	2.19	5.2	0.188	0.15114	.	1.006310	0.07995	N	0.987767	T	0.39733	0.1089	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	P	0.61592	0.891	T	0.29027	-1.0025	10	0.49607	T	0.09	.	9.1515	0.36967	0.0:0.0798:0.1864:0.7338	.	1046	Q8IY21	DDX60_HUMAN	W	1046;138	ENSP00000377344:R1046W	ENSP00000377344:R1046W	R	-	1	2	DDX60	169420417	0.000000	0.05858	0.094000	0.20943	0.100000	0.18952	0.154000	0.16343	-0.198000	0.10333	-0.856000	0.03024	CGG		0.378	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		74	140	0	0	0	1	0	74	140					A	169183842	G	A	169183842	3	1	428	1	0	0	0	0	1	0	0	0	4378	1057	37	1	2066	1	DDX60	4	169183842	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	97982678	169183842	21970434	15	36577											
TRIO	7204	broad.mit.edu	37	chr5	14485191	14485191	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaggtgagttgcctttGcctggaggaaaatgtggaaa	13	4	0	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:14485191G>C	ENST00000344204.4	+	47	6695	c.6671G>C	c.(6670-6672)tGc>tCc	p.C2224S	TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2224	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)					AGTTGCCTTTGCCTGGAGGAA	0.408																																						ENST00000344204.4																			0				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						c.(6670-6672)tGc>tCc		trio Rho guanine nucleotide exchange factor							102	93	96					5																	14485191		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485191G>C	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.6671G>C	5.37:g.14485191G>C	ENSP00000339299:p.Cys2224Ser					TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S	p.C2224S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			47	6695	+	Lung NSC(4;0.000742)		2224			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6671G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181635	0.21787	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.09538	2.97;2.97	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.108205	0.64402	D	0.000005	T	0.02649	0.0080	N	0.00182	-1.905	0.42186	D	0.991707	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.0	T	0.47497	-0.9113	10	0.10377	T	0.69	.	15.4647	0.75390	0.0:0.1485:0.8515:0.0	.	2224;2224	O75962-5;O75962	.;TRIO_HUMAN	S	2224;2224;1911	ENSP00000339299:C2224S;ENSP00000446348:C2224S	ENSP00000339299:C2224S	C	+	2	0	TRIO	14538191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.611000	0.82962	2.441000	0.82636	0.650000	0.86243	TGC		0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	228	0	0	0	1	0	5	228					C	14485191	G	C	14485191	3	2	428	1	0	0	0	0	1	0	0	0	16549	1319	46	4	6857	4	TRIO	5	14485191	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		14485191	166430069	16	36578											
C7	730	broad.mit.edu	37	chr5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctgcgttggagaaaCgacagaaagcacacaatgcg	12	9	0	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:40959677C>T	ENST00000313164.9	+	12	1975	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	539	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542																																						ENST00000313164.9																			1	Substitution - Missense(1)	p.T539M(1)	kidney(1)								c.(1615-1617)aCg>aTg		complement component 7							70	79	76					5																	40959677		2005	4179	6184	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959677C>T	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.1616C>T	5.37:g.40959677C>T	ENSP00000322061:p.Thr539Met						p.T539M	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			12	1975	+		Ovarian(839;0.0112)	539			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1616C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091574	0.36952	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.54675	0.56	5.4	5.4	0.78164	.	1.311320	0.04932	N	0.457025	T	0.67496	0.2899	L	0.52266	1.64	0.09310	N	1	D	0.63880	0.993	P	0.57846	0.828	T	0.58736	-0.7584	10	0.48119	T	0.1	0.0112	14.9329	0.70929	0.152:0.848:0.0:0.0	.	539	P10643	CO7_HUMAN	M	539;379	ENSP00000322061:T539M	ENSP00000322061:T539M	T	+	2	0	C7	40995434	0.000000	0.05858	0.031000	0.17742	0.117000	0.20001	1.112000	0.31172	2.538000	0.85594	0.462000	0.41574	ACG		0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			11	29	0	0	0	1	0	11	29					T	40959677	C	T	40959677	3	4	428	1	0	0	0	0	1	0	0	0	2375	536	19	1	1662	1	C7	5	40959677	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	26474486	40959677	139955583	17	36579											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222198	100222198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcatgagaaatgtttaGtgtccggcgcctgtcaagca	11	8	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:100222198G>A	ENST00000231461.5	-	3	662	c.352C>T	c.(352-354)Cta>Tta	p.L118L	ST8SIA4_ENST00000451528.2_Silent_p.L118L|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	118					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GAAATGTTTAGTGTCCGGCGC	0.438																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(352-354)Cta>Tta		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							141	135	137					5																	100222198		2203	4300	6503	SO:0001819	synonymous_variant	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222198G>A	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.352C>T	5.37:g.100222198G>A						ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Silent_p.L118L	p.L118L	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	662	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	118					A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	ENST00000231461.5	37	c.352C>T	CCDS4091.1																																																																																				0.438	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		61	206	0	0	0	1	0	61	206					A	100222198	G	A	100222198	2	1	428	1	0	0	0	0	0	0	0	1	15233	1020	36	2		2	ST8SIA4	5	100222198	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	59262521	100222198	80693062	18	36580											
NR3C1	2908	broad.mit.edu	37	chr5	142780104	142780104	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctgtgggaatcccaggtCatttcccatcacttttgttt	8	11	2	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:142780104C>T	ENST00000343796.2	-	2	1294	c.301G>A	c.(301-303)Gac>Aac	p.D101N	NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N	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)	101	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)	AATCCCAGGTCATTTCCCATC	0.483																																						ENST00000343796.2																			0				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						c.(301-303)Gac>Aac		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						123	138	133					5																	142780104		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780104C>T	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.301G>A	5.37:g.142780104C>T	ENSP00000343205:p.Asp101Asn					NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N	p.D101N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1294	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	101			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.301G>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483589	0.84854	.	.	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	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.14	5.14	0.70334	.	0.325783	0.35436	N	0.003202	T	0.64494	0.2603	M	0.80183	2.485	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.85130	0.935;0.997;0.935	T	0.69672	-0.5082	10	0.72032	D	0.01	.	18.6301	0.91357	0.0:1.0:0.0:0.0	.	101;101;101	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	N	101	ENSP00000377977:D101N;ENSP00000343205:D101N;ENSP00000387672:D101N;ENSP00000405282:D101N;ENSP00000422518:D101N;ENSP00000377979:D101N;ENSP00000231509:D101N;ENSP00000427672:D101N;ENSP00000424747:D101N;ENSP00000425313:D101N;ENSP00000420856:D101N;ENSP00000426478:D101N;ENSP00000425374:D101N	ENSP00000231509:D101N	D	-	1	0	NR3C1	142760297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.918000	0.63376	2.400000	0.81607	0.561000	0.74099	GAC		0.483	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			17	288	0	0	0	1	0	17	288					T	142780104	C	T	142780104	3	4	428	1	0	0	0	0	1	0	0	0	10630	826	29	2	2119	2	NR3C1	5	142780104	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	42557906	142780104	38135156	19	36581											
SLC6A7	6534	broad.mit.edu	37	chr5	149583555	149583555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggtgttctcagggcTcatctgcgtggccatgtacc	14	11	3	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:149583555T>G	ENST00000230671.2	+	10	1657	c.1286T>G	c.(1285-1287)cTc>cGc	p.L429R	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	429					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)	TTCTCAGGGCTCATCTGCGTG	0.582																																						ENST00000230671.2																			0				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						c.(1285-1287)cTc>cGc		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						97	67	77					5																	149583555		2203	4300	6503	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149583555T>G	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.1286T>G	5.37:g.149583555T>G	ENSP00000230671:p.Leu429Arg					SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R	p.L429R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1657	+		all_hematologic(541;0.224)	429					Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.1286T>G	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389891	0.42410	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.76060	-0.99;-0.99	5.04	3.66	0.41972	.	0.389558	0.28908	N	0.013755	T	0.76969	0.4062	M	0.81112	2.525	0.33604	D	0.60267	P	0.38129	0.619	B	0.43916	0.436	T	0.81362	-0.0967	10	0.27082	T	0.32	.	11.2654	0.49108	0.0:0.0848:0.0:0.9152	.	429	Q99884	SC6A7_HUMAN	R	429	ENSP00000230671:L429R;ENSP00000428200:L429R	ENSP00000230671:L429R	L	+	2	0	SLC6A7	149563748	0.995000	0.38212	1.000000	0.80357	0.960000	0.62799	2.260000	0.43267	1.884000	0.54569	0.459000	0.35465	CTC		0.582	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		3	58	0	0	0	1	0	3	58					G	149583555	T	G	149583555	3	3	428	1	0	0	0	0	1	0	0	0	14689	1551	54	5	1324	5	SLC6A7	5	149583555	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	6803451	149583555	31331705	20	36582											
HIVEP1	3096	broad.mit.edu	37	chr6	12124098	12124098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgaatactctgaatgttcCtggatgtcaccgggaaatga	10	8	2	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:12124098C>A	ENST00000379388.2	+	4	4402	c.4070C>A	c.(4069-4071)cCt>cAt	p.P1357H	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1357					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)				CTGAATGTTCCTGGATGTCAC	0.428																																						ENST00000379388.2																			0				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						c.(4069-4071)cCt>cAt		human immunodeficiency virus type I enhancer binding protein 1							78	74	75					6																	12124098		1914	4150	6064	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124098C>A	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.4070C>A	6.37:g.12124098C>A	ENSP00000368698:p.Pro1357His						p.P1357H	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4402	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1357					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.4070C>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405808	0.83230	.	.	ENSG00000095951	ENST00000379388	T	0.27720	1.65	5.79	5.79	0.91817	.	0.000000	0.35936	N	0.002889	T	0.53867	0.1823	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52931	-0.8509	9	.	.	.	-21.9567	20.04	0.97581	0.0:1.0:0.0:0.0	.	1357	P15822	ZEP1_HUMAN	H	1357	ENSP00000368698:P1357H	.	P	+	2	0	HIVEP1	12232084	1.000000	0.71417	0.449000	0.26957	0.979000	0.70002	7.471000	0.80985	2.733000	0.93635	0.655000	0.94253	CCT		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		4	133	1	0	0.00909568	1	0.00921536	4	133					A	12124098	C	A	12124098	3	1	428	1	0	0	0	0	1	0	0	0	7186	681	24	4	4080	4	HIVEP1	6	12124098	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		12124098	158990969	21	36583											
LRRC16A	55604	broad.mit.edu	37	chr6	25605088	25605088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttccagcccagctttgAgcggcgtagaacggtcggat	12	11	1	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:25605088A>G	ENST00000329474.6	+	34	3969	c.3601A>G	c.(3601-3603)Agc>Ggc	p.S1201G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1201					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						CCCAGCTTTGAGCGGCGTAGA	0.493																																						ENST00000329474.6																			0				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						c.(3601-3603)Agc>Ggc		leucine rich repeat containing 16A							17	16	16					6																	25605088		876	1991	2867	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25605088A>G	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.3601A>G	6.37:g.25605088A>G	ENSP00000331983:p.Ser1201Gly						p.S1201G	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			34	3969	+			1201					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3601A>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	6.114	0.389209	0.11581	.	.	ENSG00000079691	ENST00000329474	T	0.15834	2.39	5.27	1.44	0.22558	.	0.443201	0.27206	N	0.020428	T	0.02688	0.0081	N	0.22421	0.69	0.23478	N	0.997599	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42699	-0.9436	10	0.39692	T	0.17	-1.6168	3.3614	0.07188	0.6357:0.0:0.197:0.1673	.	1201;1201	Q5VZK9;B2RTQ5	LR16A_HUMAN;.	G	1201	ENSP00000331983:S1201G	ENSP00000331983:S1201G	S	+	1	0	LRRC16A	25713067	0.824000	0.29247	0.041000	0.18516	0.126000	0.20510	1.138000	0.31491	-0.000000	0.14550	0.455000	0.32223	AGC		0.493	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		6	14	0	0	0	1	0	6	14					G	25605088	A	G	25605088	3	3	428	1	0	0	0	0	1	0	0	0	8971	304	11	3	3735	3	LRRC16A	6	25605088	Missense_Mutation	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08	13480990	25605088	145509979	22	36584											
ZNF292	23036	broad.mit.edu	37	chr6	87966803	87966806	+	Frame_Shift_Del	DEL	GTTT	GTTT	-													aatacaccaaataatggaaaGtttgtttattttttgccatc							TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:87966803_87966806delGTTT	ENST00000369577.3	+	8	3499_3502	c.3456_3459delGTTT	c.(3454-3459)aagtttfs	p.KF1152fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1152						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)		ATAATGGAAAGTTTGTTTATTTTT	0.402																																						ENST00000369577.3																			0				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						c.(3454-3459)aafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966803_87966806delGTTT	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.3456_3459delGTTT	6.37:g.87966807_87966810delGTTT	ENSP00000358590:p.Lys1152fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs	p.KF1152fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3499_3502	+		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)	1152					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.3456_3459delGTTT	CCDS47457.1																																																																																				0.402	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		30	88						30	88	---	---	---	---	-	87966806	GTTT	-	87966803	7	5	428	1	0	1	0	1	0	0	0	0	17823	1020	36	0	3486	0	ZNF292	6	87966803	Frame_Shift_Del	DEL	GTTT	TCGA-S9-A6WD-01A-12D-A33T-08	62361715	87966803	83148264	23	36585											
SYNE1	23345	broad.mit.edu	37	chr6	152772223	152772223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgccttcctggggcaTcagcttggtctctcgatcca	9	14	3	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:152772223T>A	ENST00000367255.5	-	26	3746	c.3145A>T	c.(3145-3147)Atg>Ttg	p.M1049L	SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1049					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)		TCCTGGGGCATCAGCTTGGTC	0.453										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(3145-3147)Atg>Ttg		spectrin repeat containing, nuclear envelope 1							230	204	213					6																	152772223		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152772223T>A	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.3145A>T	6.37:g.152772223T>A	ENSP00000356224:p.Met1049Leu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L	p.M1049L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	26	3746	-		Ovarian(120;0.0955)	1049					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3145A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	5.010	0.187487	0.09547	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.85088	1.09;1.09;1.0;1.09;1.18;-1.8;-1.94;-1.94	5.87	3.92	0.45320	.	0.435314	0.19590	N	0.110644	T	0.27205	0.0667	N	0.00321	-1.65	0.80722	D	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	0.50065	-0.8871	10	0.08179	T	0.78	.	1.9414	0.03347	0.2294:0.4154:0.2083:0.1469	.	1032;1049;1039;1049;1049;1056	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	L	1049;1056;1049;1056;1115;1049;1039;1049	ENSP00000356224:M1049L;ENSP00000396024:M1056L;ENSP00000265368:M1049L;ENSP00000390975:M1056L;ENSP00000341887:M1115L;ENSP00000356222:M1049L;ENSP00000356217:M1039L;ENSP00000414510:M1049L	ENSP00000265368:M1049L	M	-	1	0	SYNE1	152813916	0.876000	0.30132	0.946000	0.38457	0.941000	0.58515	0.039000	0.13884	1.614000	0.50241	-0.177000	0.13119	ATG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		74	181	0	0	0	1	0	74	181					A	152772223	T	A	152772223	3	1	428	1	0	0	0	0	1	0	0	0	15442	1435	50	5	23805	5	SYNE1	6	152772223	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	64805420	152772223	18342844	24	36586											
MUC17	140453	broad.mit.edu	37	chr7	100676201	100676201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgaagttaacagcatgCcaacctcaactcctagtgaa	7	12	1	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100676201C>T	ENST00000306151.4	+	3	1568	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	502	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)					TAACAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			0				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						c.(1504-1506)Cca>Tca		mucin 17, cell surface associated							310	314	312					7																	100676201		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676201C>T	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.1504C>T	7.37:g.100676201C>T	ENSP00000302716:p.Pro502Ser						p.P502S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1568	+	Lung NSC(181;0.136)|all_lung(186;0.182)		502			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1504C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528324	0.04112	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.24	-1.29	0.09288	.	.	.	.	.	T	0.01695	0.0054	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.48725	-0.9010	9	0.08599	T	0.76	.	3.9149	0.09219	0.0:0.5609:0.2495:0.1896	.	502	Q685J3	MUC17_HUMAN	S	502	ENSP00000302716:P502S	ENSP00000302716:P502S	P	+	1	0	MUC17	100462921	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.113000	0.15499	-0.359000	0.08150	0.501000	0.49751	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	948	0	0	0	1	0	6	948					T	100676201	C	T	100676201	3	4	428	1	0	0	0	0	1	0	0	0	9974	739	26	2	1514	2	MUC17	7	100676201	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		100676201	58462462	25	36587											
CADPS2	93664	broad.mit.edu	37	chr7	122261562	122261562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgacagtaccacgtcGgactttgacagctgaatctc	10	10	1	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:122261562G>A	ENST00000449022.2	-	5	1096	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S|CADPS2_ENST00000334010.7_Silent_p.S359S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	359					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						GTACCACGTCGGACTTTGACA	0.393																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(1075-1077)tcC>tcT		Ca++-dependent secretion activator 2							121	117	118					7																	122261562		1883	4119	6002	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122261562G>A		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.1077C>T	7.37:g.122261562G>A						CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000449022.2_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S	p.S359S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			5	1498	-			359					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.1077C>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	8.105	0.777490	0.16120	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.926	5.4005	0.16293	0.5314:0.2359:0.0743:0.1584	.	.	.	.	X	8	.	.	R	-	1	2	CADPS2	122048798	0.000000	0.05858	0.052000	0.19188	0.985000	0.73830	-4.244000	0.00267	-3.376000	0.00176	-0.444000	0.05651	CGA		0.393	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	232	0	0	0	1	0	5	232					A	122261562	G	A	122261562	2	1	428	1	0	0	0	0	0	0	0	1	2571	1103	39	1		1	CADPS2	7	122261562	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	21585361	122261562	36877101	26	36588											
PRKDC	5591	broad.mit.edu	37	chr8	48715931	48715931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctgggaccggctccgGcagtggctcaggcggcagta	16	14	1	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Silent_p.C3285C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)	ACCGGCTCCGGCAGTGGCTCA	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(9853-9855)tgC>tgT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							67	72	70					8																	48715931		2001	4174	6175	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48715931G>A		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.9855C>T	8.37:g.48715931G>A						PRKDC_ENST00000338368.3_Silent_p.C3285C|PRKDC_ENST00000523565.1_5'UTR	p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			71	9911	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3286			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.9855C>T																																																																																					0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	249	0	0	0	1	0	5	249					A	48715931	G	A	48715931	2	1	428	1	0	0	0	0	0	0	0	1	12521	1195	42	2		2	PRKDC	8	48715931	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		48715931	97648091	27	36589											
ATP6V1H	51606	broad.mit.edu	37	chr8	54723771	54723771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagcaacaccgctaccacGcagtttctattacgaaataa	5	12	1	0	rs370139234		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:54723771G>A	ENST00000359530.2	-	7	795	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C|ATP6V1H_ENST00000355221.3_Intron	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	178					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGCTACCACGCAGTTTCTAT	0.343																																						ENST00000359530.2																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18						c.(532-534)Cgt>Tgt		ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H		G	CYS/ARG,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	87	93	91		532,532,	3.5	1	8		91	0,8600		0,0,4300	no	missense,missense,intron	ATP6V1H	NM_015941.2,NM_213620.1,NM_213619.1	180,180,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	178/484,178/484,	54723771	1,13005	2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54723771G>A	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"ATPases / V-type"	18303	protein-coding gene	gene with protein product	"vacuolar ATP synthase subunit H"	608861	"ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.532C>T	8.37:g.54723771G>A	ENSP00000352522:p.Arg178Cys					ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000355221.3_Intron|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C	p.R178C	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		7	795	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	178					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.532C>T	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046772	0.75846	2.27E-4	0.0	ENSG00000047249	ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.38	3.49	0.39957	Armadillo-like helical (1);Armadillo-type fold (1);	0.047372	0.85682	D	0.000000	T	0.40743	0.1129	N	0.22421	0.69	0.58432	D	0.999998	P	0.50710	0.938	P	0.45138	0.471	T	0.42068	-0.9473	9	0.66056	D	0.02	-14.8067	10.9973	0.47585	0.071:0.0:0.7985:0.1305	.	178	Q9UI12	VATH_HUMAN	C	138;178;178	.	ENSP00000352522:R178C	R	-	1	0	ATP6V1H	54886324	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.606000	0.67641	2.525000	0.85131	0.655000	0.94253	CGT		0.343	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		4	164	0	0	0	1	0	4	164					A	54723771	G	A	54723771	3	1	428	1	0	0	0	0	1	0	0	0	1189	1087	38	1	951	1	ATP6V1H	8	54723771	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6007840	54723771	91640251	28	36590											
TRIM55	84675	broad.mit.edu	37	chr8	67039513	67039513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcgaggagatgagcgcaTctctgaattacaaatctttt	9	8	2	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:67039513T>C	ENST00000315962.4	+	1	383	c.10T>C	c.(10-12)Tct>Cct	p.S4P	TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P|TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	4					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATGAGCGCATCTCTGAATTA	0.483																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(10-12)Tct>Cct		tripartite motif containing 55							111	110	110					8																	67039513		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67039513T>C	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.10T>C	8.37:g.67039513T>C	ENSP00000323913:p.Ser4Pro					TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P|TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P	p.S4P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	383	+		Lung NSC(129;0.138)|all_lung(136;0.221)	4					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.10T>C	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031338	0.54790	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.39787	1.41;1.5;1.4;1.06	5.72	5.72	0.89469	.	0.217259	0.49305	D	0.000152	T	0.28699	0.0711	N	0.08118	0	0.42845	D	0.994062	B;B;B;B	0.19935	0.005;0.017;0.023;0.04	B;B;B;B	0.25614	0.006;0.037;0.028;0.062	T	0.12426	-1.0548	10	0.62326	D	0.03	.	16.0101	0.80396	0.0:0.0:0.0:1.0	.	4;4;4;4	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	P	4	ENSP00000323913:S4P;ENSP00000297348:S4P;ENSP00000276573:S4P;ENSP00000332302:S4P	ENSP00000276573:S4P	S	+	1	0	TRIM55	67202067	1.000000	0.71417	0.979000	0.43373	0.922000	0.55478	4.196000	0.58407	2.171000	0.68590	0.533000	0.62120	TCT		0.483	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		32	131	0	0	0	1	0	32	131					C	67039513	T	C	67039513	3	2	428	1	0	0	0	0	1	0	0	0	16526	1435	50	3	12	3	TRIM55	8	67039513	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	12315742	67039513	79324509	29	36591											
SULF1	23213	broad.mit.edu	37	chr8	70541854	70541854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggaagagtgcagcctgCctggcctcacttgcttcacg	14	12	2	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:70541854C>T	ENST00000260128.4	+	19	2941	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	SULF1_ENST00000458141.2_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	742					apoptotic process (GO:0006915)|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 angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTGCAGCCTGCCTGGCCTCAC	0.537																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2224-2226)Cct>Tct		sulfatase 1							128	111	117					8																	70541854		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541854C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2224C>T	8.37:g.70541854C>T	ENSP00000260128:p.Pro742Ser					SULF1_ENST00000458141.2_Missense_Mutation_p.P742S|SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S	p.P742S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2941	+	Breast(64;0.0654)		742					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2224C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663736	0.88251	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.054735	0.85682	D	0.000000	T	0.30417	0.0764	M	0.65975	2.015	0.80722	D	1	B	0.25563	0.129	B	0.18263	0.021	T	0.09122	-1.0689	10	0.39692	T	0.17	.	17.9404	0.89025	0.0:1.0:0.0:0.0	.	742	Q8IWU6	SULF1_HUMAN	S	742	ENSP00000403040:P742S;ENSP00000260128:P742S;ENSP00000385704:P742S;ENSP00000390315:P742S	ENSP00000260128:P742S	P	+	1	0	SULF1	70704408	1.000000	0.71417	0.906000	0.35671	0.971000	0.66376	7.622000	0.83099	2.440000	0.82611	0.655000	0.94253	CCT		0.537	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		5	247	0	0	0	1	0	5	247					T	70541854	C	T	70541854	3	4	428	1	0	0	0	0	1	0	0	0	15369	739	26	2	2282	2	SULF1	8	70541854	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	3502341	70541854	75822168	30	36592											
KCNB2	9312	broad.mit.edu	37	chr8	73480200	73480200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcctcctggaagtgtgCgacgactataatctgaacga	12	9	1	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:73480200C>T	ENST00000523207.1	+	2	819	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	77					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)	TGGAAGTGTGCGACGACTATA	0.522																																						ENST00000523207.1																			0				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						c.(229-231)tgC>tgT		potassium voltage-gated channel, Shab-related subfamily, member 2							82	80	81					8																	73480200		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480200C>T	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.231C>T	8.37:g.73480200C>T							p.C77C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	819	+	Breast(64;0.137)		77					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.231C>T	CCDS6209.1																																																																																				0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	163	0	0	0	1	0	4	163					T	73480200	C	T	73480200	2	4	428	1	0	0	0	0	0	0	0	1	8013	776	27	1		1	KCNB2	8	73480200	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	2938346	73480200	72883822	31	36593											
TMEM72	643236	broad.mit.edu	37	chr10	45430279	45430279	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacactttccatggggccctCaaggaggggcccagctccct	11	15	1	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:45430279C>G	ENST00000544540.1	+	4	655	c.171C>G	c.(169-171)ctC>ctG	p.L57L	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	175						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ATGGGGCCCTCAAGGAGGGGC	0.602																																						ENST00000544540.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						c.(169-171)ctC>ctG		transmembrane protein 72							129	137	135					10																	45430279		1568	3582	5150	SO:0001819	synonymous_variant	643236					integral to membrane		g.chr10:45430279C>G	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 127"	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.171C>G	10.37:g.45430279C>G						TMEM72-AS1_ENST00000450287.2_RNA	p.L57L			A0PK05	TMM72_HUMAN			4	655	+			175					A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37	c.171C>G																																																																																					0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		148	222	0	0	0	1	0	148	222					G	45430279	C	G	45430279	2	3	428	1	0	0	0	0	0	0	0	1	16198	813	29	4		4	TMEM72	10	45430279	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		45430279	90104468	32	36594											
GLUD1	2746	broad.mit.edu	37	chr10	88836407	88836407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcacatcagtgctgtaaCggatacctggtggtgttttt	10	9	2	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:88836407C>T	ENST00000277865.4	-	2	548	c.452G>A	c.(451-453)cGt>cAt	p.R151H	GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H|GLUD1_ENST00000537649.1_5'UTR	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	151					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)	AGTGCTGTAACGGATACCTGG	0.403																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.(451-453)cGt>cAt		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						109	94	99					10																	88836407		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88836407C>T	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.452G>A	10.37:g.88836407C>T	ENSP00000277865:p.Arg151His					GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H	p.R151H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			2	548	-			151					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.452G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875924	0.91664	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000513510;ENST00000544149	D;D	0.99259	-5.64;-5.23	4.8	4.8	0.61643	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.101407	0.64402	D	0.000001	D	0.99771	0.9906	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96519	0.9384	10	0.87932	D	0	.	17.8009	0.88586	0.0:1.0:0.0:0.0	.	18;151	B4DGN5;P00367	.;DHE3_HUMAN	H	151;108;83;18	ENSP00000277865:R151H;ENSP00000444732:R18H	ENSP00000277865:R151H	R	-	2	0	GLUD1	88826387	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.274000	0.78538	2.383000	0.81215	0.484000	0.47621	CGT		0.403	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		70	124	0	0	0	1	0	70	124					T	88836407	C	T	88836407	3	4	428	1	0	0	0	0	1	0	0	0	6476	536	19	1	1272	1	GLUD1	10	88836407	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	43406128	88836407	46698340	33	36595											
C10orf46	143384	broad.mit.edu	37	chr10	120450872	120450872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgccggagggagaatgttTggaataaatttagaaaatag	12	4	0	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:120450872T>C	ENST00000369151.3	-	7	1413	c.930A>G	c.(928-930)ccA>ccG	p.P310P	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	310					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)										GGAGAATGTTTGGAATAAATT	0.363																																						ENST00000369151.3																			0											c.(928-930)ccA>ccG		CDK2-associated, cullin domain 1							138	141	140					10																	120450872		1808	4075	5883	SO:0001819	synonymous_variant	143384							g.chr10:120450872T>C	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.930A>G	10.37:g.120450872T>C						CACUL1_ENST00000544392.1_5'UTR	p.P310P	NM_153810.4	NP_722517.3					7	1413	-								Q5XPL7|Q8IY11|Q8N7S4	Silent	SNP	ENST00000369151.3	37	c.930A>G	CCDS41570.1																																																																																				0.363	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		114	198	0	0	0	1	0	114	198					C	120450872	T	C	120450872	2	2	428	1	0	0	0	0	0	0	0	1	1604	1799	63	3		3	C10orf46	10	120450872	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	31614465	120450872	15083875	34	36596											
CAT	847	broad.mit.edu	37	chr11	34475370	34475370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcttgttcagtgatcGggggattccagatggacatc	11	8	3	2	rs201484998		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:34475370G>A	ENST00000241052.4	+	6	697	c.608G>A	c.(607-609)cGg>cAg	p.R203Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	203					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTCAGTGATCGGGGGATTCCA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		21009	0.0		0.001	False		,,,				2504	0.0					ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(607-609)cGg>cAg		catalase	Fomepizole(DB01213)	G	GLN/ARG	0,4404		0,0,2202	119	111	114		608	5.8	0.6	11		114	1,8595	1.2+/-3.3	0,1,4297	yes	missense	CAT	NM_001752.3	43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	203/528	34475370	1,12999	2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34475370G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.608G>A	11.37:g.34475370G>A	ENSP00000241052:p.Arg203Gln						p.R203Q	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	6	697	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	203					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.608G>A	CCDS7891.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.6	4.430609	0.83776	0.0	1.16E-4	ENSG00000121691	ENST00000241052	D	0.92647	-3.08	5.84	5.84	0.93424	Catalase domain (1);Catalase, N-terminal (2);	0.060435	0.64402	D	0.000002	D	0.98012	0.9345	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99019	1.0817	10	0.87932	D	0	-12.3757	15.2925	0.73875	0.0687:0.0:0.9313:0.0	.	203	P04040	CATA_HUMAN	Q	203	ENSP00000241052:R203Q	ENSP00000241052:R203Q	R	+	2	0	CAT	34431946	1.000000	0.71417	0.606000	0.28943	0.467000	0.32768	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CGG		0.343	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		76	145	0	0	0	1	0	76	145					A	34475370	G	A	34475370	3	1	428	1	0	0	0	0	1	0	0	0	2686	1116	39	1	630	1	CAT	11	34475370	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		34475370	100531146	35	36597											
PTPRJ	5795	broad.mit.edu	37	chr11	48146663	48146663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggttagagcctggcaccCgatacaatgccaccgtttat	10	12	0	1	rs142177730		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:48146663C>A	ENST00000418331.2	+	6	1370	c.1018C>A	c.(1018-1020)Cga>Aga	p.R340R	PTPRJ_ENST00000440289.2_Silent_p.R340R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	340	Fibronectin type-III 3. {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						GCCTGGCACCCGATACAATGC	0.562																																						ENST00000418331.2																			0				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						c.(1018-1020)Cga>Aga		protein tyrosine phosphatase, receptor type, J							87	92	90					11																	48146663		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48146663C>A	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.1018C>A	11.37:g.48146663C>A						PTPRJ_ENST00000440289.2_Silent_p.R340R	p.R340R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			6	1370	+			340			Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1018C>A	CCDS7945.1																																																																																				0.562	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			51	172	1	0	5.57489e-27	1	5.88037e-27	51	172					A	48146663	C	A	48146663	2	1	428	1	0	0	0	0	0	0	0	1	12804	644	23	4		4	PTPRJ	11	48146663	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	13671293	48146663	86859853	36	36598											
C12orf11	55726	broad.mit.edu	37	chr12	27087520	27087520	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggtcttcttgagtccaaGaatttaaaacatgtgctcca	7	8	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr12:27087520G>T	ENST00000261191.7	-	3	805	c.269C>A	c.(268-270)tCt>tAt	p.S90Y	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	90					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)											TTGAGTCCAAGAATTTAAAAC	0.313																																						ENST00000261191.7																			0											c.(268-270)tCt>tAt		asunder spermatogenesis regulator							93	104	100					12																	27087520		2202	4300	6502	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27087520G>T	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.269C>A	12.37:g.27087520G>T	ENSP00000261191:p.Ser90Tyr					ASUN_ENST00000539625.1_Intron	p.S90Y	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			3	805	-			90					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.269C>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858459	0.71834	.	.	ENSG00000064102	ENST00000261191;ENST00000544548;ENST00000537336	T;T;T	0.50277	0.75;0.75;0.75	4.88	4.88	0.63580	.	0.165424	0.53938	D	0.000050	T	0.61726	0.2370	M	0.63843	1.955	0.80722	D	1	D	0.55385	0.971	P	0.55303	0.773	T	0.65865	-0.6064	10	0.87932	D	0	-13.2825	18.6166	0.91305	0.0:0.0:1.0:0.0	.	90	Q9NVM9	M89BB_HUMAN	Y	90	ENSP00000261191:S90Y;ENSP00000446183:S90Y;ENSP00000443066:S90Y	ENSP00000261191:S90Y	S	-	2	0	C12orf11	26978787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.036000	0.57304	2.707000	0.92482	0.563000	0.77884	TCT		0.313	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		56	187	1	0	5.10508e-28	1	5.4596e-28	56	187					T	27087520	G	T	27087520	3	4	428	1	0	0	0	0	1	0	0	0	1675	942	33	4	1911	4	C12orf11	12	27087520	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		27087520	106764375	37	36599											
ITGBL1	9358	broad.mit.edu	37	chr13	102227854	102227854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaattttgtgagtgtgaCgatagagaatgcatagacga	13	3	0	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:102227854C>T	ENST00000376180.3	+	4	762	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ITGBL1_ENST00000545560.2_Silent_p.D40D|ITGBL1_ENST00000376162.3_Silent_p.D88D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	181	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAGTGTGACGATAGAGAAT	0.348																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(541-543)gaC>gaT		integrin, beta-like 1 (with EGF-like repeat domains)							263	241	249					13																	102227854		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102227854C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.543C>T	13.37:g.102227854C>T						ITGBL1_ENST00000376162.3_Silent_p.D88D|ITGBL1_ENST00000545560.2_Silent_p.D40D	p.D181D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			4	762	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		181			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.543C>T	CCDS9499.1																																																																																				0.348	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		11	364	0	0	0	1	0	11	364					T	102227854	C	T	102227854	2	4	428	1	0	0	0	0	0	0	0	1	7902	535	19	1		1	ITGBL1	13	102227854	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		102227854	12942024	38	36600											
ARGLU1	55082	broad.mit.edu	37	chr13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-													cgctcgaactccgctttcttCtcctcctcctctcgcttctg							TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	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)					CCGCTTTCTTCTCCTCCTCCTCT	0.714																																						ENST00000400198.3																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(313-315)del		arginine and glutamate rich 1																																				SO:0001651	inframe_deletion	55082							g.chr13:107219953_107219955delCTC	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.313_315delGAG	13.37:g.107219962_107219964delCTC	ENSP00000383059:p.Glu105del						p.E105del	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN			1	557_559	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		105			Glu-rich.		B4E0Y3|Q5T257|Q6IQ34	In_Frame_Del	DEL	ENST00000400198.3	37	c.313_315delGAG	CCDS41906.1																																																																																				0.714	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011		51	125						51	125	---	---	---	---	-	107219955	CTC	-	107219953	7	5	428	1	0	1	0	1	0	0	0	0	860	912	32	0	522	0	ARGLU1	13	107219953	In_Frame_Del	DEL	CTC	TCGA-S9-A6WD-01A-12D-A33T-08	4992099	107219953	7949925	39	36601											
UBR7	55148	broad.mit.edu	37	chr14	93693343	93693345	+	In_Frame_Del	DEL	AGA	AGA	-													aagagtttcagtcaaaaaagAgaagaagagtggatgggatg							TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr14:93693343_93693345delAGA	ENST00000013070.6	+	11	1476_1478	c.1240_1242delAGA	c.(1240-1242)agadel	p.R416del	UBR7_ENST00000416753.1_In_Frame_Del_p.R340del	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GTCAAAAAAGAGAAGAAGAGTGG	0.374																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(1240-1242)del		ubiquitin protein ligase E3 component n-recognin 7 (putative)				0,4264		0,0,2132						4.7	1			101	1,8253		0,1,4126	no	coding	UBR7	NM_175748.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93693343_93693345delAGA	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1240_1242delAGA	14.37:g.93693349_93693351delAGA	ENSP00000013070:p.Arg416del					UBR7_ENST00000416753.1_In_Frame_Del_p.R340del	p.R416del	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			11	1476_1478	+			416					Q86U21|Q86UA9|Q96BY0|Q9NVV6	In_Frame_Del	DEL	ENST00000013070.6	37	c.1240_1242delAGA	CCDS9909.1																																																																																				0.374	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		38	82						38	82	---	---	---	---	-	93693345	AGA	-	93693343	7	5	428	1	0	1	0	1	0	0	0	0	16903	296	11	0	1282	0	UBR7	14	93693343	In_Frame_Del	DEL	AGA	TCGA-S9-A6WD-01A-12D-A33T-08		93693343	13656197	40	36602											
CYP11A1	1583	broad.mit.edu	37	chr15	74637578	74637578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctttcttccaggctgcCgacttcctgagaaaacatgg	10	12	2	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:74637578C>T	ENST00000268053.6	-	3	586	c.432G>A	c.(430-432)tcG>tcA	p.S144S	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_5'UTR|CYP11A1_ENST00000541301.1_Intron	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	144					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)	TCCAGGCTGCCGACTTCCTGA	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000268053.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(430-432)tcG>tcA		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						52	48	49					15																	74637578		2197	4296	6493	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637578C>T	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.432G>A	15.37:g.74637578C>T						CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_5'UTR	p.S144S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN			3	586	-			144					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.432G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121087	0.20877	.	.	ENSG00000140459	ENST00000416978	D	0.86097	-2.07	4.37	-8.27	0.01017	.	.	.	.	.	T	0.79604	0.4474	.	.	.	0.27522	N	0.95136	.	.	.	.	.	.	T	0.74878	-0.3514	6	0.87932	D	0	-5.8827	6.6051	0.22721	0.1017:0.5224:0.0953:0.2806	.	.	.	.	Q	160	ENSP00000388018:R160Q	ENSP00000388018:R160Q	R	-	2	0	CYP11A1	72424631	0.000000	0.05858	0.001000	0.08648	0.093000	0.18481	-1.963000	0.01513	-1.393000	0.02079	-2.192000	0.00311	CGG		0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			25	43	0	0	0	1	0	25	43					T	74637578	C	T	74637578	2	4	428	1	0	0	0	0	0	0	0	1	4144	639	23	1		1	CYP11A1	15	74637578	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		74637578	27893814	41	36603											
MPG	4350	broad.mit.edu	37	chr16	135641	135641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctggagcccagtgagccGgctgtagtggcagcagcccg	15	15	0	1	rs140510538		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:135641G>A	ENST00000219431.4	+	5	993	c.762G>A	c.(760-762)ccG>ccA	p.P254P	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.P237P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	254					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCAGTGAGCCGGCTGTAGTGG	0.667								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(760-762)ccG>ccA	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase		G	,,	0,4404		0,0,2202	19	24	22		747,711,762	-10.8	0	16	dbSNP_134	22	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MPG	NM_001015052.1,NM_001015054.1,NM_002434.2	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	249/294,237/282,254/299	135641	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:135641G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.762G>A	16.37:g.135641G>A						MPG_ENST00000397817.1_Silent_p.P237P	p.P254P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			5	993	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	254					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.762G>A	CCDS32346.1																																																																																				0.667	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			10	29	0	0	0	1	0	10	29					A	135641	G	A	135641	2	1	428	1	0	0	0	0	0	0	0	1	9724	1103	39	1		1	MPG	16	135641	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		135641	90219112	42	36604											
SNX29	92017	broad.mit.edu	37	chr16	12662399	12662399	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagcctgtgaacagccgGcccaaagcagcttcccgctt	12	14	0	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:12662399G>A	ENST00000566228.1	+	21	2424	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.R400R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	785						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGAACAGCCGGCCCAAAGCAG	0.622																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(2353-2355)cgG>cgA		sorting nexin 29							37	46	43					16																	12662399		1987	4178	6165	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12662399G>A	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.2355G>A	16.37:g.12662399G>A						CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.R400R	p.R785R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			21	2424	+			400					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.2355G>A	CCDS10553.2																																																																																				0.622	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			4	87	0	0	0	1	0	4	87					A	12662399	G	A	12662399	2	1	428	1	0	0	0	0	0	0	0	1	14898	1190	42	2		2	SNX29	16	12662399	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	12526758	12662399	77692354	43	36605											
IGSF6	10261	broad.mit.edu	37	chr16	21658503	21658503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtttagctctcgcttcCggcacactggggaatgctat	11	11	2	0	rs576841517		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:21658503C>T	ENST00000268389.4	-	2	439	c.378G>A	c.(376-378)ccG>ccA	p.P126P	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	126	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTCTCGCTTCCGGCACACTGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		23729	0.0		0.0	False		,,,				2504	0.001					ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(376-378)ccG>ccA		immunoglobulin superfamily, member 6							115	106	109					16																	21658503		2199	4300	6499	SO:0001819	synonymous_variant	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658503C>T	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.378G>A	16.37:g.21658503C>T						METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	p.P126P	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	439	-			126			Ig-like C2-type.		Q8WWD8	Silent	SNP	ENST00000268389.4	37	c.378G>A	CCDS10599.1																																																																																				0.488	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			5	243	0	0	0	1	0	5	243					T	21658503	C	T	21658503	2	4	428	1	0	0	0	0	0	0	0	1	7603	639	23	1		1	IGSF6	16	21658503	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	8996104	21658503	68696250	44	36606											
GSG1L	146395	broad.mit.edu	37	chr16	27856321	27856321	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtctccagtcctcaggaccGaggctcacggtgacctggaa	13	13	3	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:27856321G>A	ENST00000447459.2	-	4	696	c.612C>T	c.(610-612)ctC>ctT	p.L204L	GSG1L_ENST00000569166.1_Silent_p.L49L|GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000380898.2_Silent_p.L49L|GSG1L_ENST00000380897.3_Silent_p.L49L	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	204					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCTCAGGACCGAGGCTCACGG	0.602																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(145-147)ctC>ctT		GSG1-like							97	65	76					16																	27856321		2197	4300	6497	SO:0001819	synonymous_variant	146395					integral to membrane		g.chr16:27856321G>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.612C>T	16.37:g.27856321G>A						GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000569166.1_Silent_p.L49L|GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000380897.3_Silent_p.L49L	p.L49L			Q6UXU4	GSG1L_HUMAN			4	696	-			204					Q7Z6F8|Q8TB81	Silent	SNP	ENST00000447459.2	37	c.147C>T	CCDS45450.1																																																																																				0.602	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		13	35	0	0	0	1	0	13	35					A	27856321	G	A	27856321	2	1	428	1	0	0	0	0	0	0	0	1	6821	1045	37	1		1	GSG1L	16	27856321	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6197818	27856321	62498432	45	36607											
COG4	25839	broad.mit.edu	37	chr16	70546310	70546310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagcttcctgcagcaaTttcaggttggcatcaatcat	8	11	4	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:70546310T>C	ENST00000323786.5	-	5	591	c.570A>G	c.(568-570)aaA>aaG	p.K190K	COG4_ENST00000393612.4_Silent_p.K186K|COG4_ENST00000564653.1_Intron	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	186					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CCTGCAGCAATTTCAGGTTGG	0.478																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(568-570)aaA>aaG		component of oligomeric golgi complex 4							76	64	68					16																	70546310		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70546310T>C	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.570A>G	16.37:g.70546310T>C						COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Silent_p.K186K	p.K190K	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			5	591	-		Ovarian(137;0.0694)	186					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.570A>G	CCDS10892.2																																																																																				0.478	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			18	36	0	0	0	1	0	18	36					C	70546310	T	C	70546310	2	2	428	1	0	0	0	0	0	0	0	1	3660	1490	52	3		3	COG4	16	70546310	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	42689989	70546310	19808443	46	36608											
EPX	8288	broad.mit.edu	37	chr17	56270829	56270829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacagttgttcgggccGcagattatatgcatgtggct	13	9	0	1	rs200333656		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr17:56270829G>A	ENST00000225371.5	+	3	378	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	90					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)	TGTTCGGGCCGCAGATTATAT	0.572																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(268-270)Gca>Aca		eosinophil peroxidase							84	77	79					17																	56270829		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270829G>A	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.268G>A	17.37:g.56270829G>A	ENSP00000225371:p.Ala90Thr						p.A90T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			3	378	+			90					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.268G>A	CCDS11602.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.80	3.478574	0.63849	.	.	ENSG00000121053	ENST00000225371	T	0.72942	-0.7	4.47	4.47	0.54385	.	0.120751	0.56097	D	0.000036	D	0.84781	0.5548	M	0.85197	2.74	0.58432	D	0.999991	D	0.89917	1.0	D	0.74023	0.982	D	0.87765	0.2601	10	0.87932	D	0	-9.6087	14.9829	0.71324	0.0:0.0:1.0:0.0	.	90	P11678	PERE_HUMAN	T	90	ENSP00000225371:A90T	ENSP00000225371:A90T	A	+	1	0	EPX	53625828	0.899000	0.30636	0.855000	0.33649	0.452000	0.32318	2.640000	0.46579	2.186000	0.69663	0.549000	0.68633	GCA		0.572	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		56	137	0	0	0	1	0	56	137					A	56270829	G	A	56270829	3	1	428	1	0	0	0	0	1	0	0	0	5200	1087	38	1	278	1	EPX	17	56270829	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		56270829	24924381	47	36609											
DSC1	1823	broad.mit.edu	37	chr18	28710645	28710645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcttcacaatgtttatgCtcctcatcttgtccacacaa	4	12	4	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr18:28710645C>T	ENST00000257198.5	-	16	2778	c.2517G>A	c.(2515-2517)gaG>gaA	p.E839E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	839					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATGTTTATGCTCCTCATCTT	0.388																																						ENST00000257198.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2515-2517)gaG>gaA		desmocollin 1							121	120	120					18																	28710645		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710645C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2517G>A	18.37:g.28710645C>T						DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	p.E839E	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2778	-			839					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2517G>A	CCDS11894.1																																																																																				0.388	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		4	158	0	0	0	1	0	4	158					T	28710645	C	T	28710645	2	4	428	1	0	0	0	0	0	0	0	1	4765	796	28	2		2	DSC1	18	28710645	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		28710645	49366603	48	36610											
HMHA1	23526	broad.mit.edu	37	chr19	1080922	1080922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgacccccgagctgccGgtggccgtgcccagtggacc	15	16	0	1	rs199528174		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:1080922G>A	ENST00000313093.2	+	17	2280	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P	HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P|HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000590577.1_Silent_p.P318P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	683					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)		CCGAGCTGCCGGTGGCCGTGC	0.701													g|||	1	0.000199681	0.0008	0.0	5008	,	,		12869	0.0		0.0	False		,,,				2504	0.0					ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2047-2049)ccG>ccA		histocompatibility (minor) HA-1							14	16	15					19																	1080922		2193	4288	6481	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080922G>A	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.2049G>A	19.37:g.1080922G>A						HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000590577.1_Silent_p.P318P|HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P	p.P683P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		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)	17	2280	+		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)	683					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.2049G>A	CCDS32863.1																																																																																				0.701	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			15	25	0	0	0	1	0	15	25					A	1080922	G	A	1080922	2	1	428	1	0	0	0	0	0	0	0	1	7240	1103	39	1		1	HMHA1	19	1080922	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		1080922	58048061	49	36611											
INSR	3643	broad.mit.edu	37	chr19	7267448	7267448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcccttcgcggtacccGgacagatgtctccacactcc	8	17	2	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:7267448G>A	ENST00000302850.5	-	2	702	c.560C>T	c.(559-561)cCg>cTg	p.P187L	INSR_ENST00000341500.5_Missense_Mutation_p.P187L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	187	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.P187L(4)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CGCGGTACCCGGACAGATGTC	0.537																																						ENST00000341500.5																			4	Substitution - Missense(4)	p.P187L(4)	lung(4)	breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(559-561)cCg>cTg		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						153	114	127					19																	7267448		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267448G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.560C>T	19.37:g.7267448G>A	ENSP00000303830:p.Pro187Leu					INSR_ENST00000302850.5_Missense_Mutation_p.P187L	p.P187L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	599	-			187			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.560C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205287	0.58234	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97665	-4.48;-4.48	5.1	5.1	0.69264	Furin-like cysteine-rich domain (1);	0.000000	0.45867	D	0.000335	D	0.98623	0.9539	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.67231	0.922;0.934;0.95	D	0.99716	1.1008	10	0.87932	D	0	.	16.0231	0.80512	0.0:0.0:1.0:0.0	.	178;187;187	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	L	187	ENSP00000303830:P187L;ENSP00000342838:P187L	ENSP00000303830:P187L	P	-	2	0	INSR	7218448	1.000000	0.71417	0.901000	0.35422	0.254000	0.26022	7.558000	0.82253	2.363000	0.80096	0.563000	0.77884	CCG		0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			4	150	0	0	0	1	0	4	150					A	7267448	G	A	7267448	3	1	428	1	0	0	0	0	1	0	0	0	7773	1116	39	1	3672	1	INSR	19	7267448	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6186526	7267448	51861535	50	36612											
IL27RA	9466	broad.mit.edu	37	chr19	14157003	14157003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgagctacaaagtctGgttctgggttggaggtcgtg	17	6	2	1	rs531955454		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:14157003G>A	ENST00000263379.2	+	7	931	c.806G>A	c.(805-807)tGg>tAg	p.W269*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	269					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TACAAAGTCTGGTTCTGGGTT	0.552																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(805-807)tGg>tAg		interleukin 27 receptor, alpha							149	150	150					19																	14157003		2203	4300	6503	SO:0001587	stop_gained	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157003G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.806G>A	19.37:g.14157003G>A	ENSP00000263379:p.Trp269*						p.W269*	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			7	931	+			269					A0N0L1|O60624	Nonsense_Mutation	SNP	ENST00000263379.2	37	c.806G>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834274	0.97003	.	.	ENSG00000104998	ENST00000263379	.	.	.	4.42	-1.49	0.08718	.	0.814201	0.10425	N	0.676133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.1435	1.2302	0.01942	0.1358:0.168:0.3109:0.3852	.	.	.	.	X	269	.	ENSP00000263379:W269X	W	+	2	0	IL27RA	14018003	0.005000	0.15991	0.000000	0.03702	0.031000	0.12232	0.110000	0.15437	0.014000	0.14944	0.557000	0.71058	TGG		0.552	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		132	232	0	0	0	1	0	132	232					A	14157003	G	A	14157003	4	1	428	1	0	0	0	0	0	1	0	0	7681	1357	47	2	832	2	IL27RA	19	14157003	Nonsense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6889555	14157003	44971980	51	36613											
ZNF737	100129842	broad.mit.edu	37	chr19	20728053	20728053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtgcttaaaggctttgCcacattcttcacatttgtag	10	8	2	0	rs538433962		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:20728053C>T	ENST00000427401.4	-	4	1050	c.956G>A	c.(955-957)gGc>gAc	p.G319D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	319					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGGCTTTGCCACATTCTTC	0.418													c|||	1	0.000199681	0.0	0.0	5008	,	,		21781	0.0		0.0	False		,,,				2504	0.001					ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(955-957)gGc>gAc		zinc finger protein 737							34	33	33					19																	20728053		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728053C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.956G>A	19.37:g.20728053C>T	ENSP00000395733:p.Gly319Asp						p.G319D	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	1050	-			319					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.956G>A	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	14.21	2.467439	0.43839	.	.	ENSG00000237440	ENST00000427401	T	0.58358	0.34	0.801	-1.6	0.08426	.	.	.	.	.	T	0.38081	0.1027	N	0.25992	0.78	0.27923	N	0.938163	P	0.52316	0.952	P	0.46172	0.506	T	0.35076	-0.9803	9	0.56958	D	0.05	.	4.9223	0.13876	0.3382:0.6617:0.0:0.0	.	319	C9JHM3	.	D	319	ENSP00000395733:G319D	ENSP00000395733:G319D	G	-	2	0	ZNF737	20519893	0.003000	0.15002	0.233000	0.24025	0.235000	0.25334	-0.133000	0.10451	0.170000	0.19704	0.173000	0.16961	GGC		0.418	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	129	0	0	0	1	0	4	129					T	20728053	C	T	20728053	3	4	428	1	0	0	0	0	1	0	0	0	18123	739	26	2	658	2	ZNF737	19	20728053	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	6571050	20728053	38400930	52	36614											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	13	8	2	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:42799051G>A	ENST00000575354.2	+	20	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000572681.2_Missense_Mutation_p.R2418H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					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)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(7252-7254)cGt>cAt		capicua transcriptional repressor							51	51	51					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>A	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.4535G>A	19.37:g.42799051G>A	ENSP00000458663:p.Arg1512His					CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H	p.R2418H			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529376	0.85706	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.65037	0.2653	L	0.29908	0.895	0.47009	D	0.999284	D	0.76494	0.999	D	0.74674	0.984	T	0.68911	-0.5284	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	H	1512	.	ENSP00000160740:R1512H	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	85	0	0	0	1	0	4	85					A	42799051	G	A	42799051	3	1	428	1	0	0	0	0	1	0	0	0	3424	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	22070998	42799051	16329932	53	36615											
ZFP28	140612	broad.mit.edu	37	chr19	57066157	57066157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcatcagaaaacccataCaggagagaaaccatatgagt	8	9	1	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:57066157C>A	ENST00000301318.3	+	8	2074	c.2003C>A	c.(2002-2004)aCa>aAa	p.T668K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	668					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)		AAAACCCATACAGGAGAGAAA	0.463																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(2002-2004)aCa>aAa		ZFP28 zinc finger protein							86	88	87					19																	57066157		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066157C>A		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.2003C>A	19.37:g.57066157C>A	ENSP00000301318:p.Thr668Lys					AC007228.11_ENST00000596587.1_RNA	p.T668K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	2074	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	668					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.2003C>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079021	0.36662	.	.	ENSG00000196867	ENST00000301318	T	0.24538	1.85	3.91	3.91	0.45181	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000227	T	0.30854	0.0778	N	0.10707	0.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.44742	-0.9308	10	0.87932	D	0	.	15.2106	0.73222	0.0:1.0:0.0:0.0	.	668	Q8NHY6	ZFP28_HUMAN	K	668	ENSP00000301318:T668K	ENSP00000301318:T668K	T	+	2	0	ZFP28	61757969	0.244000	0.23889	0.013000	0.15412	0.024000	0.10985	1.857000	0.39399	2.182000	0.69389	0.555000	0.69702	ACA		0.463	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		48	22	1	0	8.72198e-27	1	9.07558e-27	48	22					A	57066157	C	A	57066157	3	1	428	1	0	0	0	0	1	0	0	0	17639	478	17	4	2033	4	ZFP28	19	57066157	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	14267106	57066157	2062826	54	36616											
HSPA13	6782	broad.mit.edu	37	chr21	15750617	15750617	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggcattccaagataTgcctctgccatttcctttaa	6	12	1	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr21:15750617T>C	ENST00000285667.3	-	3	550	c.483A>G	c.(481-483)gcA>gcG	p.A161A	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	161						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCAAGATATGCCTCTGCCA	0.408																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(481-483)gcA>gcG		heat shock protein 70kDa family, member 13							116	103	107					21																	15750617		2203	4300	6503	SO:0001819	synonymous_variant	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15750617T>C		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.483A>G	21.37:g.15750617T>C						HSPA13_ENST00000544452.1_Intron	p.A161A	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			3	550	-			161					B2R616|Q8NE40	Silent	SNP	ENST00000285667.3	37	c.483A>G	CCDS13567.1																																																																																				0.408	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			83	113	0	0	0	1	0	83	113					C	15750617	T	C	15750617	2	2	428	1	0	0	0	0	0	0	0	1	7406	1451	51	3		3	HSPA13	21	15750617	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08		15750617	32379278	55	36617											
FOXR2	139628	broad.mit.edu	37	chrX	55651077	55651077	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctctctctttgatctTtgaaatgccattgctccctt	5	12	3	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chrX:55651077T>C	ENST00000339140.3	+	1	1245	c.933T>C	c.(931-933)ctT>ctC	p.L311L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	311					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						TCTTTGATCTTTGAAATGCCA	0.478																																						ENST00000339140.3																			0				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						c.(931-933)ctT>ctC		forkhead box R2							120	91	101					X																	55651077		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55651077T>C	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.933T>C	X.37:g.55651077T>C							p.L311L	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	1245	+			311						Silent	SNP	ENST00000339140.3	37	c.933T>C	CCDS35308.1																																																																																				0.478	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		9	37	0	0	0	1	0	9	37					C	55651077	T	C	55651077	2	2	428	1	0	0	0	0	0	0	0	1	6032	1828	64	3		3	FOXR2	23	55651077	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08		55651077	99619483	56	36618											
HEATR5B	54497	broad.mit.edu	37	chr2	37229591	37229591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactgagatgtggcatatgCcgtactaaaatgaacatcag	10	7	1	2			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725						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)				GTGGCATATGCCGTACTAAAA	0.478																																						ENST00000233099.5																			0				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						c.(5173-5175)cgG>cgA		HEAT repeat containing 5B							175	155	161					2																	37229591		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37229591C>T	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.5175G>A	2.37:g.37229591C>T						HEATR5B_ENST00000354531.2_Intron	p.R1725R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			32	5270	-		all_hematologic(82;0.21)	1725					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5175G>A	CCDS33181.1																																																																																				0.478	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		5	232	0	0	0	1	0	5	232					T	37229591	C	T	37229591	2	4	429	1	0	0	0	0	0	0	0	1	7032	726	26	2		2	HEATR5B	2	37229591	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		37229591	205969782	1	36619											
PGAP1	80055	broad.mit.edu	37	chr2	197791237	197791237	+	Missense_Mutation	SNP	T	T	C													tgtagctcatactgcacttaTtctcctcgaagccgaagaag					rs149238260		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791237T>C	ENST00000354764.4	-	1	218	c.104A>G	c.(103-105)aAt>aGt	p.N35S	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	35					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						ACTGCACTTATTCTCCTCGAA	0.522																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(103-105)aAt>aGt		post-GPI attachment to proteins 1		T	SER/ASN	4,4402	8.1+/-20.4	0,4,2199	206	227	220		104	4.2	1	2	dbSNP_134	220	0,8600		0,0,4300	no	missense	PGAP1	NM_024989.3	46	0,4,6499	CC,CT,TT		0.0,0.0908,0.0308	benign	35/923	197791237	4,13002	2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791237T>C		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.104A>G	2.37:g.197791237T>C	ENSP00000346809:p.Asn35Ser					PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	p.N35S	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	218	-			35					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.104A>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525854	0.64860	9.08E-4	0.0	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	L	0.39397	1.21	0.80722	D	1	B;D	0.63880	0.266;0.993	B;D	0.68192	0.115;0.956	T	0.62996	-0.6735	9	0.41790	T	0.15	-10.7093	10.6745	0.45778	0.0:0.0:0.0:1.0	.	35;35	Q75T13-3;Q75T13	.;PGAP1_HUMAN	S	35	.	ENSP00000346809:N35S	N	-	2	0	PGAP1	197499482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.413000	0.73308	1.752000	0.51891	0.260000	0.18958	AAT		0.522	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		6	460	0	0	0	1	0	6	460					C	197791237	T	C	197791237	3	2	429	1	0	0	0	0	1	0	0	0	11777	1493	52	3	2772	3	PGAP1	2	197791237	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08	160561646	197791237	45408136	2	36620	155	2									
PGAP1	80055	broad.mit.edu	37	chr2	197791240	197791240	+	Missense_Mutation	SNP	T	T	C													agctcatactgcacttattcTcctcgaagccgaagaagaca							TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791240T>C	ENST00000354764.4	-	1	215	c.101A>G	c.(100-102)gAg>gGg	p.E34G	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	34					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						GCACTTATTCTCCTCGAAGCC	0.522																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(100-102)gAg>gGg		post-GPI attachment to proteins 1							205	226	219					2																	197791240		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197791240T>C		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.101A>G	2.37:g.197791240T>C	ENSP00000346809:p.Glu34Gly					PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	p.E34G	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			1	215	-			34					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.101A>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584480	0.65992	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	L	0.55990	1.75	0.80722	D	1	B;D	0.71674	0.449;0.998	B;D	0.72982	0.241;0.979	T	0.63274	-0.6674	9	0.25106	T	0.35	-9.9534	10.6745	0.45778	0.0:0.0:0.0:1.0	.	34;34	Q75T13-3;Q75T13	.;PGAP1_HUMAN	G	34	.	ENSP00000346809:E34G	E	-	2	0	PGAP1	197499485	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.413000	0.73308	1.752000	0.51891	0.260000	0.18958	GAG		0.522	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		6	462	0	0	0	1	0	6	462					C	197791240	T	C	197791240	3	2	429	1	0	0	0	0	1	0	0	0	11777	1551	54	3	2775	3	PGAP1	2	197791240	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08	3	197791240	45408133	3	36621	155	2									
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	81	0	0	0	1	0	60	81					T	209113112	C	T	209113112	3	4	429	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	11321872	209113112	34086261	4	36622											
PIKFYVE	200576	broad.mit.edu	37	chr2	209165737	209165737	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcaggatcaccgctActggttgagaacgcatccca	11	11	2	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209165737A>G	ENST00000264380.4	+	9	1285	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	376	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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						GATCACCGCTACTGGTTGAGA	0.438																																						ENST00000264380.4																			0				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						c.(1126-1128)tAc>tGc		phosphoinositide kinase, FYVE finger containing							139	121	127					2																	209165737		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209165737A>G	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.1127A>G	2.37:g.209165737A>G	ENSP00000264380:p.Tyr376Cys					PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C	p.Y376C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			9	1285	+			376			DEP.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1127A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562330	0.86335	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000392200;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.54	5.54	0.83059	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.33962	0.0881	L	0.58510	1.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.992;0.999;0.998;0.998;0.992	T	0.01904	-1.1250	10	0.44086	T	0.13	-12.9992	15.3378	0.74273	1.0:0.0:0.0:0.0	.	376;376;290;376;279	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	C	279;376;8;376;290;376	ENSP00000376038:Y279C;ENSP00000264380:Y376C;ENSP00000384356:Y376C;ENSP00000308715:Y290C;ENSP00000405736:Y376C	ENSP00000264380:Y376C	Y	+	2	0	PIKFYVE	208873982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.309000	0.96252	2.086000	0.62901	0.460000	0.39030	TAC		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		64	86	0	0	0	1	0	64	86					G	209165737	A	G	209165737	3	3	429	1	0	0	0	0	1	0	0	0	11924	391	14	3	1157	3	PIKFYVE	2	209165737	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	52625	209165737	34033636	5	36623											
PDS5A	23244	broad.mit.edu	37	chr4	39911877	39911877	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttacctgtgagatccttCgctaaatctgggtgattcat	9	9	2	2	rs187463902	byFrequency	TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr4:39911877C>T	ENST00000303538.8	-	10	1613	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PDS5A_ENST00000503396.1_Silent_p.A358A	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						TGAGATCCTTCGCTAAATCTG	0.343													C|||	15	0.00299521	0.0113	0.0	5008	,	,		19215	0.0		0.0	False		,,,				2504	0.0					ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1072-1074)gcG>gcA		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)		C	,	17,3715		0,17,1849	78	75	76		1074,1074	2.5	1	4		76	0,8208		0,0,4104	no	coding-synonymous,coding-synonymous	PDS5A	NM_001100399.1,NM_001100400.1	,	0,17,5953	TT,TC,CC		0.0,0.4555,0.1424	,	358/1338,358/601	39911877	17,11923	1866	4104	5970	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39911877C>T	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.1074G>A	4.37:g.39911877C>T						PDS5A_ENST00000503396.1_Silent_p.A358A	p.A358A	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			10	1613	-			358						Silent	SNP	ENST00000303538.8	37	c.1074G>A	CCDS47045.1																																																																																				0.343	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	9	0	0	0	1	0	3	9					T	39911877	C	T	39911877	2	4	429	1	0	0	0	0	0	0	0	1	11691	871	31	1		1	PDS5A	4	39911877	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		39911877	151242399	6	36624											
PPIC	5480	broad.mit.edu	37	chr5	122361500	122361500	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcccatcaatgacttttccAaacaccacatgtttgccgtc	4	14	1	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr5:122361500A>G	ENST00000306442.4	-	4	604	c.489T>C	c.(487-489)ttT>ttC	p.F163F		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	163	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TGACTTTTCCAAACACCACAT	0.403																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(487-489)ttT>ttC		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						70	62	65					5																	122361500		2203	4300	6503	SO:0001819	synonymous_variant	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122361500A>G	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.489T>C	5.37:g.122361500A>G							p.F163F	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	604	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	163			PPIase cyclophilin-type.		A4LBB5	Silent	SNP	ENST00000306442.4	37	c.489T>C	CCDS4133.1																																																																																				0.403	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		60	73	0	0	0	1	0	60	73					G	122361500	A	G	122361500	2	3	429	1	0	0	0	0	0	0	0	1	12320	127	5	3		3	PPIC	5	122361500	Silent	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08		122361500	58553760	7	36625											
LMOD2	442721	broad.mit.edu	37	chr7	123302544	123302544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggtgctcacggagctgCgtttccataaccagaggcac	11	13	1	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr7:123302544C>T	ENST00000458573.2	+	2	1061	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	302						cytoskeleton (GO:0005856)											CACGGAGCTGCGTTTCCATAA	0.537																																						ENST00000458573.2																			0											c.(904-906)Cgt>Tgt		leiomodin 2 (cardiac)							93	91	92					7																	123302544		2147	4257	6404	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302544C>T	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.904C>T	7.37:g.123302544C>T	ENSP00000411932:p.Arg302Cys					LMOD2_ENST00000456238.2_Intron	p.R302C	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1061	+			302					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.904C>T	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035144	0.75617	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93189	-3.18	5.35	5.35	0.76521	.	.	.	.	.	D	0.95313	0.8479	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95264	0.8371	9	0.87932	D	0	-9.4882	13.0109	0.58731	0.2814:0.7186:0.0:0.0	.	302	Q6P5Q4	LMOD2_HUMAN	C	302;262;273	ENSP00000411932:R302C	ENSP00000405123:R273C	R	+	1	0	LMOD2	123089780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.007000	0.49536	2.648000	0.89879	0.591000	0.81541	CGT		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			5	147	0	0	0	1	0	5	147					T	123302544	C	T	123302544	3	4	429	1	0	0	0	0	1	0	0	0	8857	768	27	1	910	1	LMOD2	7	123302544	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		123302544	35836119	8	36626											
ANKRD30A	91074	broad.mit.edu	37	chr10	37418878	37418881	+	Frame_Shift_Del	DEL	AGAC	AGAC	-													gaagtagtaacatttctggtAgacagaaagtgccagcttga							TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr10:37418878_37418881delAGAC	ENST00000602533.1	+	2	210_213	c.111_114delAGAC	c.(109-114)gtagacfs	p.VD37fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000374660.1_Frame_Shift_Del_p.VD37fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	93					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATTTCTGGTAGACAGAAAGTGCC	0.456																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(109-114)gtfs		ankyrin repeat domain 30A																																				SO:0001589	frameshift_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37418878_37418881delAGAC	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.111_114delAGAC	10.37:g.37418878_37418881delAGAC	ENSP00000473551:p.Val37fs					ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.VD37fs	p.VD37fs			Q9BXX3	AN30A_HUMAN			2	210_213	+			93					Q5W025	Frame_Shift_Del	DEL	ENST00000602533.1	37	c.111_114delAGAC																																																																																					0.456	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		24	59						24	59	---	---	---	---	-	37418881	AGAC	-	37418878	7	5	429	1	0	1	0	1	0	0	0	0	658	407	15	0	117	0	ANKRD30A	10	37418878	Frame_Shift_Del	DEL	AGAC	TCGA-S9-A6WE-01A-12D-A33T-08		37418878	98115869	9	36627											
MYST4	23522	broad.mit.edu	37	chr10	76784828	76784828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgagccctttgacaActcagatgaagagaggccaa	10	9	1	6			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr10:76784828A>G	ENST00000287239.4	+	17	3974	c.3485A>G	c.(3484-3486)aAc>aGc	p.N1162S	KAT6B_ENST00000372714.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372711.1_Missense_Mutation_p.N979S|KAT6B_ENST00000372725.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372724.1_Missense_Mutation_p.N870S|KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.5_ENST00000436608.1_RNA|RP11-77G23.2_ENST00000413431.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1162					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)										CCCTTTGACAACTCAGATGAA	0.483																																						ENST00000287239.4																			0											c.(3484-3486)aAc>aGc		K(lysine) acetyltransferase 6B							98	89	92					10																	76784828		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784828A>G	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.3485A>G	10.37:g.76784828A>G	ENSP00000287239:p.Asn1162Ser					KAT6B_ENST00000372714.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372711.1_Missense_Mutation_p.N979S|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.N870S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.N870S	p.N1162S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	3974	+			1162					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3485A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340284	0.60963	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78246	-1.15;-1.15;-1.16;-1.15;-1.15	5.8	5.8	0.92144	.	0.000000	0.49916	D	0.000124	T	0.76779	0.4035	L	0.46157	1.445	0.58432	D	0.999999	P;P;B	0.49559	0.925;0.592;0.051	P;B;B	0.46339	0.513;0.12;0.03	T	0.77726	-0.2480	10	0.45353	T	0.12	-8.5806	16.1365	0.81491	1.0:0.0:0.0:0.0	.	979;870;1162	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	870;870;1162;870;979	ENSP00000361810:N870S;ENSP00000361809:N870S;ENSP00000287239:N1162S;ENSP00000361799:N870S;ENSP00000361796:N979S	ENSP00000287239:N1162S	N	+	2	0	KAT6B	76454834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.117000	0.77129	2.212000	0.71576	0.533000	0.62120	AAC		0.483	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		46	36	0	0	0	1	0	46	36					G	76784828	A	G	76784828	3	3	429	1	0	0	0	0	1	0	0	0	10105	43	2	3	3543	3	MYST4	10	76784828	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	39365950	76784828	58749919	10	36628											
VWCE	220001	broad.mit.edu	37	chr11	61049329	61049329	+	Frame_Shift_Del	DEL	T	T	-													ataggaagctgcccacggtgTtgtggcaggaatggtgacag							TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:61049329delT	ENST00000335613.5	-	7	1102	c.716delA	c.(715-717)aacfs	p.N239fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	239	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					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						GCCCACGGTGTTGTGGCAGGA	0.627																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(715-717)acfs		von Willebrand factor C and EGF domains							115	92	100					11																	61049329		2203	4299	6502	SO:0001589	frameshift_variant	220001					extracellular region	calcium ion binding	g.chr11:61049329delT	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.716delA	11.37:g.61049329delT	ENSP00000334186:p.Asn239fs						p.N239fs	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			7	1102	-			239			EGF-like 4; calcium-binding (Potential).		A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Del	DEL	ENST00000335613.5	37	c.716delA	CCDS8002.1																																																																																				0.627	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		52	102						52	102	---	---	---	---	-	61049329	T	-	61049329	7	5	429	1	0	1	0	1	0	0	0	0	17242	1725	60	0	2207	0	VWCE	11	61049329	Frame_Shift_Del	DEL	T	TCGA-S9-A6WE-01A-12D-A33T-08		61049329	73957187	11	36629											
PDE2A	5138	broad.mit.edu	37	chr11	72316192	72316192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctcaccggactttccCctcctggggcagctcatgtg	11	14	2	0			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:72316192C>T	ENST00000334456.5	-	4	558	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R|PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	105					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CGGACTTTCCCCTCCTGGGGC	0.572																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(313-315)Ggg>Agg		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						74	69	70					11																	72316192		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72316192C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.313G>A	11.37:g.72316192C>T	ENSP00000334910:p.Gly105Arg					PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R	p.G105R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		4	558	-			105					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.313G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305446	0.81247	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000540345;ENST00000538749;ENST00000542969	T;T;T;T;T;T	0.78126	-1.15;-0.69;-1.15;-1.15;-1.15;-1.15	5.4	5.4	0.78164	.	0.228785	0.35805	N	0.002972	D	0.82337	0.5015	L	0.32530	0.975	0.35767	D	0.820606	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.996;1.0;0.996;0.996	D	0.86955	0.2088	10	0.87932	D	0	.	14.6799	0.69009	0.0:1.0:0.0:0.0	.	105;96;98;105;98	O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	PDE2A_HUMAN;.;.;.;.	R	105;98;96;174;98;96;84;84	ENSP00000334910:G105R;ENSP00000365633:G98R;ENSP00000411657:G96R;ENSP00000442256:G98R;ENSP00000446399:G96R;ENSP00000439683:G84R	ENSP00000334910:G105R	G	-	1	0	PDE2A	71993840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.841000	0.62824	2.537000	0.85549	0.561000	0.74099	GGG		0.572	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		23	46	0	0	0	1	0	23	46					T	72316192	C	T	72316192	3	4	429	1	0	0	0	0	1	0	0	0	11636	623	22	2	2624	2	PDE2A	11	72316192	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	11266863	72316192	62690324	12	36630											
EXPH5	23086	broad.mit.edu	37	chr11	108409780	108409780	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgatggaagctttgaAgtctcctttccagatttcct	8	11	1	3			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:108409780A>G	ENST00000265843.4	-	3	524	c.414T>C	c.(412-414)acT>acC	p.T138T	EXPH5_ENST00000428840.1_Silent_p.T62T|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000443411.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	138					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)		GAAGCTTTGAAGTCTCCTTTC	0.443																																						ENST00000265843.4																			0				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						c.(412-414)acT>acC		exophilin 5							142	138	140					11																	108409780		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108409780A>G		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.414T>C	11.37:g.108409780A>G						EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000428840.1_Silent_p.T62T	p.T138T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	3	524	-		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)	138					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.414T>C	CCDS8341.1																																																																																				0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		84	119	0	0	0	1	0	84	119					G	108409780	A	G	108409780	2	3	429	1	0	0	0	0	0	0	0	1	5322	59	3	3		3	EXPH5	11	108409780	Silent	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	36093588	108409780	26596736	13	36631											
DNM1L	10059	broad.mit.edu	37	chr12	32884346	32884346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagttactggtgaagcgGcaaatcaaacgtctagaaga	11	6	2	4			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:32884346G>A	ENST00000549701.1	+	11	1331	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000414834.2_Silent_p.R216R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R|DNM1L_ENST00000266481.6_Silent_p.R419R			O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(1255-1257)cgG>cgA		dynamin 1-like							111	115	113					12																	32884346		2203	4300	6503	SO:0001819	synonymous_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884346G>A	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1257G>A	12.37:g.32884346G>A						DNM1L_ENST00000547312.1_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R	p.R419R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			11	1421	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		419			Middle domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	c.1257G>A	CCDS8729.1																																																																																				0.418	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		4	200	0	0	0	1	0	4	200					A	32884346	G	A	32884346	2	1	429	1	0	0	0	0	0	0	0	1	4671	1190	42	2		2	DNM1L	12	32884346	Silent	SNP	G	TCGA-S9-A6WE-01A-12D-A33T-08		32884346	100967549	14	36632											
CLIP1	6249	broad.mit.edu	37	chr12	122817533	122817533	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcaacagtcacatataCctttctttcagacgtaattc	3	11	4	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:122817533C>T	ENST00000540338.1	-	14	2909		c.e14+1		CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000358808.2_Splice_Site|CLIP1_ENST00000545889.1_Splice_Site			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						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)		GTCACATATACCTTTCTTTCA	0.393																																						ENST00000358808.2																			0				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						c.e14+1		CAP-GLY domain containing linker protein 1							166	138	148					12																	122817533		2203	4299	6502	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122817533C>T		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.2867+1G>A	12.37:g.122817533C>T						CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site		NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	14	2989	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)							A0AVD3|Q17RS4|Q29RG0	Splice_Site	SNP	ENST00000540338.1	37		CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420698	0.83559	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6753	0.95930	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLIP1	121383486	1.000000	0.71417	0.999000	0.59377	0.784000	0.44337	7.240000	0.78192	2.648000	0.89879	0.563000	0.77884	.		0.393	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Intron	27	51	0	0	0	1	0	27	51					T	122817533	C	T	122817533	5	4	429	1	0	0	0	0	0	0	1	0	3532	521	18	2	1496	2	CLIP1	12	122817533	Splice_Site	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	89933187	122817533	11034362	15	36633											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274236	68274236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagcagccgctcctcCcgcaggggactcccctcggt	12	18	0	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr14:68274236C>T	ENST00000347230.4	-	5	903	c.765G>A	c.(763-765)cgG>cgA	p.R255R	ZFYVE26_ENST00000555452.1_Silent_p.R255R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	255					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)		GCCGCTCCTCCCGCAGGGGAC	0.622																																						ENST00000347230.4																			0				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						c.(763-765)cgG>cgA		zinc finger, FYVE domain containing 26							32	34	33					14																	68274236		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274236C>T	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.765G>A	14.37:g.68274236C>T						ZFYVE26_ENST00000555452.1_Silent_p.R255R	p.R255R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	903	-			255					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.765G>A	CCDS9788.1																																																																																				0.622	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		33	42	0	0	0	1	0	33	42					T	68274236	C	T	68274236	2	4	429	1	0	0	0	0	0	0	0	1	17665	610	22	2		2	ZFYVE26	14	68274236	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		68274236	39075304	16	36634											
MSLNL	401827	broad.mit.edu	37	chr16	830799	830799	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taggtgacggtgtgcacgggTaggtgacagctgtgtgcacg	18	7	0	2			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr16:830799T>G	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.T68P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(202-204)Acc>Ccc		mesothelin-like							143	138	140					16																	830799		2127	4240	6367	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830799T>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-637A>C	16.37:g.830799T>G						MSLNL_ENST00000442466.1_Intron	p.T68P			Q96KJ4	MSLNL_HUMAN			3	201	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.202A>C		.	.	.	.	.	.	.	.	.	.	-	0.050	-1.254173	0.01457	.	.	ENSG00000162006	ENST00000293892	T	0.23950	1.88	1.06	-2.13	0.07144	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15065	-1.0450	5	.	.	.	.	5.6142	0.17422	0.0:0.2906:0.5047:0.2047	.	.	.	.	P	68	ENSP00000293892:T68P	.	T	-	1	0	MSLNL	770800	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.354000	0.00129	-3.380000	0.00175	-1.687000	0.00730	ACC		0.592	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		5	237	0	0	0	1	0	5	237					G	830799	T	G	830799	1	3	429	0	1	0	0	0	0	0	0	0	9882	1638	57	5		5	MSLNL	16	830799	Intron	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08		830799	89523954	17	36635											
ATP8B1	5205	broad.mit.edu	37	chr18	55399014	55399014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaatcctcgtcaaatgtcGtttctgagtctctttctgta	8	9	4	2	rs150268416		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr18:55399014G>A	ENST00000283684.4	-	1	25	c.26C>T	c.(25-27)aCg>aTg	p.T9M	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T9M|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	9					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTCAAATGTCGTTTCTGAGTC	0.428																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(25-27)aCg>aTg		ATPase, aminophospholipid transporter, class I, type 8B, member 1		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	303	297	299		26	5	0.7	18	dbSNP_134	299	0,8600		0,0,4300	no	missense	ATP8B1	NM_005603.4	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	9/1252	55399014	2,13004	2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55399014G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.26C>T	18.37:g.55399014G>A	ENSP00000283684:p.Thr9Met					ATP8B1_ENST00000283684.4_Missense_Mutation_p.T9M|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	p.T9M	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			2	145	-		Colorectal(73;0.229)	9					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.26C>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790480	0.70337	4.54E-4	0.0	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.30448	1.53;1.53	5.04	5.04	0.67666	.	0.566313	0.19604	N	0.110312	T	0.40040	0.1101	L	0.36672	1.1	0.40317	D	0.978784	D	0.76494	0.999	P	0.53146	0.719	T	0.35599	-0.9782	10	0.72032	D	0.01	.	18.3446	0.90317	0.0:0.0:1.0:0.0	.	9	O43520	AT8B1_HUMAN	M	9	ENSP00000283684:T9M;ENSP00000445359:T9M	ENSP00000283684:T9M	T	-	2	0	ATP8B1	53550012	1.000000	0.71417	0.679000	0.29978	0.774000	0.43823	6.553000	0.73918	2.501000	0.84356	0.655000	0.94253	ACG		0.428	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		6	329	0	0	0	1	0	6	329					A	55399014	G	A	55399014	3	1	429	1	0	0	0	0	1	0	0	0	1194	1145	40	1	3837	1	ATP8B1	18	55399014	Missense_Mutation	SNP	G	TCGA-S9-A6WE-01A-12D-A33T-08		55399014	22678234	18	36636											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	13	12	1	2			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000572681.2_Missense_Mutation_p.R1111W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		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)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	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						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63	67	66					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	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.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			39	28	0	0	0	1	0	39	28					T	42791718	C	T	42791718	3	4	429	1	0	0	0	0	1	0	0	0	3424	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		42791718	16337265	19	36637											
TMX4	56255	broad.mit.edu	37	chr20	7982176	7982176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagtggtgacaaagaagCggccactcaaacctacaaga	12	9	1	4			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr20:7982176C>T	ENST00000246024.2	-	3	520	c.305G>A	c.(304-306)cGc>cAc	p.R102H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	102	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GACAAAGAAGCGGCCACTCAA	0.323																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(304-306)cGc>cAc		thioredoxin-related transmembrane protein 4							65	62	63					20																	7982176		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7982176C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.305G>A	20.37:g.7982176C>T	ENSP00000246024:p.Arg102His					TMX4_ENST00000530935.1_5'UTR	p.R102H	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			3	520	-			102			Thioredoxin.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.305G>A	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426373	0.83667	.	.	ENSG00000125827	ENST00000246024	T	0.03441	3.93	4.95	4.95	0.65309	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.129503	0.50627	D	0.000107	T	0.21801	0.0525	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.01143	-1.1438	10	0.87932	D	0	-8.6044	17.3457	0.87309	0.0:1.0:0.0:0.0	.	102	Q9H1E5	TMX4_HUMAN	H	102	ENSP00000246024:R102H	ENSP00000246024:R102H	R	-	2	0	TMX4	7930176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.466000	0.83321	0.455000	0.32223	CGC		0.323	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		11	21	0	0	0	1	0	11	21					T	7982176	C	T	7982176	3	4	429	1	0	0	0	0	1	0	0	0	16266	768	27	1	768	1	TMX4	20	7982176	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		7982176	55043344	20	36638											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	114	0	0	0	1	0	5	114					G	37028425	A	G	37028425	3	3	429	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08		37028425	118242135	21	36639											
MYSM1	114803	broad.mit.edu	37	chr1	59137620	59137620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgccaactcctcaGcagagagatgctaaaacaaa	6	10	2	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr1:59137620G>T	ENST00000472487.1	-	12	1622	c.1583C>A	c.(1582-1584)gCt>gAt	p.A528D	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	528					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CAACTCCTCAGCAGAGAGATG	0.358																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1582-1584)gCt>gAt		Myb-like, SWIRM and MPN domains 1							108	97	100					1																	59137620		1828	4087	5915	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59137620G>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1583C>A	1.37:g.59137620G>T	ENSP00000418734:p.Ala528Asp					MYSM1_ENST00000493821.1_5'UTR	p.A528D	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			12	1622	-	all_cancers(7;9.36e-06)		528					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1583C>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364108	0.82353	.	.	ENSG00000162601	ENST00000472487	T	0.25749	1.78	4.9	3.98	0.46160	.	0.053087	0.85682	D	0.000000	T	0.40040	0.1101	L	0.57536	1.79	0.44409	D	0.997323	D	0.71674	0.998	P	0.60949	0.881	T	0.12656	-1.0539	10	0.36615	T	0.2	-6.1433	11.1954	0.48709	0.0918:0.0:0.9082:0.0	.	528	Q5VVJ2	MYSM1_HUMAN	D	528	ENSP00000418734:A528D	ENSP00000418734:A528D	A	-	2	0	MYSM1	58910208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.706000	0.68362	1.256000	0.44068	0.650000	0.86243	GCT		0.358	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		20	71	1	0	1.50039e-11	1	1.76296e-11	20	71					T	59137620	G	T	59137620	3	4	430	1	0	0	0	0	1	0	0	0	10101	971	34	4	939	4	MYSM1	1	59137620	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		59137620	190113001	1	36640											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			47	116	0	0	0	1	0	47	116					T	209113112	C	T	209113112	3	4	430	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		209113112	34086261	2	36641											
SPEG	10290	broad.mit.edu	37	chr2	220342458	220342458	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggggaggatgaggaccatCgaggaaggagactcagcgac	17	8	1	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr2:220342458C>T	ENST00000312358.7	+	21	4909	c.4777C>T	c.(4777-4779)Cga>Tga	p.R1593*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1593					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)		TGAGGACCATCGAGGAAGGAG	0.607																																						ENST00000312358.7																			0				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						c.(4777-4779)Cga>Tga		SPEG complex locus							90	97	95					2																	220342458		2041	4178	6219	SO:0001587	stop_gained	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220342458C>T	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.4777C>T	2.37:g.220342458C>T	ENSP00000311684:p.Arg1593*					SPEG_ENST00000485813.1_3'UTR	p.R1593*	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		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)	21	4909	+		Renal(207;0.0183)	1593					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	ENST00000312358.7	37	c.4777C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	44	10.914318	0.99488	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	.	.	.	4.84	2.97	0.34412	.	0.000000	0.33040	N	0.005352	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6923	0.28575	0.2891:0.6341:0.0:0.0768	.	.	.	.	X	1593	.	ENSP00000265327:R1593X	R	+	1	2	SPEG	220050702	0.821000	0.29204	0.488000	0.27440	0.708000	0.40852	0.763000	0.26517	0.699000	0.31761	0.655000	0.94253	CGA		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		23	77	0	0	0	1	0	23	77					T	220342458	C	T	220342458	4	4	430	1	0	0	0	0	0	1	0	0	15035	876	31	1	4871	1	SPEG	2	220342458	Nonsense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	11229346	220342458	22856915	3	36642											
SCN10A	6336	broad.mit.edu	37	chr3	38743473	38743473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattttgcccagaattttcGtcttttcttcactttggtca	6	9	4	2	rs184521520		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:38743473G>A	ENST00000449082.2	-	26	4513	c.4514C>T	c.(4513-4515)aCg>aTg	p.T1505M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGAATTTTCGTCTTTTCTTC	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21533	0.0		0.0	False		,,,				2504	0.0					ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4513-4515)aCg>aTg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167	146	153					3																	38743473		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38743473G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4514C>T	3.37:g.38743473G>A	ENSP00000390600:p.Thr1505Met						p.T1505M	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	26	4513	-			1505					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4514C>T	CCDS33736.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.06	1.527779	0.27299	.	.	ENSG00000185313	ENST00000449082	D	0.97620	-4.46	4.71	4.71	0.59529	.	0.187985	0.47093	D	0.000241	D	0.98264	0.9425	M	0.80183	2.485	0.29745	N	0.836817	D	0.89917	1.0	D	0.68943	0.961	D	0.95720	0.8765	10	0.48119	T	0.1	.	17.8452	0.88728	0.0:0.0:1.0:0.0	.	1505	Q9Y5Y9	SCNAA_HUMAN	M	1505	ENSP00000390600:T1505M	ENSP00000390600:T1505M	T	-	2	0	SCN10A	38718477	0.987000	0.35691	0.929000	0.37066	0.558000	0.35554	2.193000	0.42658	2.434000	0.82447	0.557000	0.71058	ACG		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		39	124	0	0	0	1	0	39	124					A	38743473	G	A	38743473	3	1	430	1	0	0	0	0	1	0	0	0	13912	1145	40	1	1364	1	SCN10A	3	38743473	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		38743473	159278957	4	36643											
DVL3	1857	broad.mit.edu	37	chr3	183873553	183873555	+	In_Frame_Del	DEL	TTC	TTC	-													tgcagcgacccagctataagTtcttcttcaagtctatggac							TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:183873553_183873555delTTC	ENST00000313143.3	+	1	378_380	c.130_132delTTC	c.(130-132)ttcdel	p.F46del	DVL3_ENST00000431765.1_In_Frame_Del_p.F46del|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	46	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGCTATAAGTTCTTCTTCAAGT	0.635																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(130-132)del		dishevelled segment polarity protein 3																																				SO:0001651	inframe_deletion	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183873553_183873555delTTC	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.130_132delTTC	3.37:g.183873559_183873561delTTC	ENSP00000316054:p.Phe46del					EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_In_Frame_Del_p.F46del|DVL3_ENST00000462665.1_3'UTR	p.F46del	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		1	378_380	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		46			DIX.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	In_Frame_Del	DEL	ENST00000313143.3	37	c.130_132delTTC	CCDS3253.1																																																																																				0.635	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		7	162						7	162	---	---	---	---	-	183873555	TTC	-	183873553	7	5	430	1	0	1	0	1	0	0	0	0	4837	1725	60	0	132	0	DVL3	3	183873553	In_Frame_Del	DEL	TTC	TCGA-S9-A6WG-01A-11D-A33T-08	145130080	183873553	14148877	5	36644											
CPE	1363	broad.mit.edu	37	chr4	166405649	166405649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcatactcttctttcaAcccggccatgtctgacccca	7	17	4	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr4:166405649A>G	ENST00000402744.4	+	5	1146	c.866A>G	c.(865-867)aAc>aGc	p.N289S		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	289					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)"	TCTTCTTTCAACCCGGCCATG	0.502																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(865-867)aAc>aGc		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						281	273	276					4																	166405649		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405649A>G	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.866A>G	4.37:g.166405649A>G	ENSP00000386104:p.Asn289Ser						p.N289S	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1146	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	289					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.866A>G	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974788	0.74360	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.10668	2.85	5.67	5.67	0.87782	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	L	0.52759	1.655	0.80722	D	1	P	0.40909	0.732	B	0.43331	0.416	T	0.00440	-1.1738	10	0.87932	D	0	-0.085	16.1993	0.82057	1.0:0.0:0.0:0.0	.	289	P16870	CBPE_HUMAN	S	289;253	ENSP00000386104:N289S	ENSP00000261510:N253S	N	+	2	0	CPE	166625099	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.644000	0.91044	2.281000	0.76405	0.528000	0.53228	AAC		0.502	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		13	474	0	0	0	1	0	13	474					G	166405649	A	G	166405649	3	3	430	1	0	0	0	0	1	0	0	0	3799	43	2	3	884	3	CPE	4	166405649	Missense_Mutation	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		166405649	24748627	6	36645											
TAF9	6880	broad.mit.edu	37	chr5	68660800	68660800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcatcatcatcatcAtcgtcatcatcatcatcttc	2	13	11	0	rs548057941	byFrequency	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0.0	0.0058	5008	,	,		23660	0.0		0.0	False		,,,				2504	0.0					ENST00000328663.4																			1	Substitution - coding silent(1)	p.D255D(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(763-765)gaT>gaC		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							115	107	110					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron	p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1231	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	59					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		5	248	0	0	0	1	0	5	248					G	68660800	A	G	68660800	2	3	430	1	0	0	0	0	0	0	0	1	15532	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		68660800	112254460	7	36646											
NSD1	64324	broad.mit.edu	37	chr5	176638954	176638954	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaaagaaaactctgagtGtgcctttagggtcttacttc	10	7	2	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:176638954G>T	ENST00000439151.2	+	5	3599	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	NSD1_ENST00000354179.4_Missense_Mutation_p.C916F|NSD1_ENST00000347982.4_Missense_Mutation_p.C916F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1082F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1185					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)		AACTCTGAGTGTGCCTTTAGG	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				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						c.(3553-3555)tGt>tTt		nuclear receptor binding SET domain protein 1							77	72	74					5																	176638954		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638954G>T	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.3554G>T	5.37:g.176638954G>T	ENSP00000395929:p.Cys1185Phe	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.C916F|NSD1_ENST00000354179.4_Missense_Mutation_p.C916F|NSD1_ENST00000361032.4_Missense_Mutation_p.C1082F	p.C1185F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3599	+	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)	1185					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3554G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914565	0.33815	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92858	-3.01;-3.01;-3.01;-3.12	4.49	2.68	0.31781	.	0.470725	0.19703	N	0.107984	T	0.80132	0.4567	N	0.08118	0	0.25884	N	0.983559	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.0	T	0.65274	-0.6208	9	.	.	.	.	8.5191	0.33264	0.1814:0.0:0.8186:0.0	.	916;1082;1185	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	916;1185;916;1082	ENSP00000346111:C916F;ENSP00000395929:C1185F;ENSP00000343209:C916F;ENSP00000354310:C1082F	.	C	+	2	0	NSD1	176571560	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.396000	0.34531	0.620000	0.30215	0.655000	0.94253	TGT		0.478	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	77	1	0	0.150653	1	0.153929	4	77					T	176638954	G	T	176638954	3	4	430	1	0	0	0	0	1	0	0	0	10669	1377	48	4	3568	4	NSD1	5	176638954	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	107978154	176638954	4276306	8	36647											
COL19A1	1310	broad.mit.edu	37	chr6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttagaaatcgagaactcCgtcctttgtttgatcgtcag	8	8	1	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	Laminin G-like.				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						TCGAGAACTCCGTCCTTTGTT	0.393																																						ENST00000322773.4																			0				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						c.(490-492)Cgt>Tgt		collagen, type XIX, alpha 1							120	116	117					6																	70639416		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639416C>T		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.490C>T	6.37:g.70639416C>T	ENSP00000316030:p.Arg164Cys						p.R164C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	592	+			164			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.490C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049568	0.19827	.	.	ENSG00000082293	ENST00000322773	T	0.15256	2.44	5.52	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.341651	0.27253	N	0.020208	T	0.14614	0.0353	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.50490	0.642	T	0.00918	-1.1515	10	0.39692	T	0.17	.	13.0037	0.58692	0.0:0.8762:0.0:0.1238	.	164	Q14993	COJA1_HUMAN	C	164	ENSP00000316030:R164C	ENSP00000316030:R164C	R	+	1	0	COL19A1	70696137	0.954000	0.32549	0.456000	0.27044	0.645000	0.38454	2.138000	0.42140	2.592000	0.87571	0.467000	0.42956	CGT		0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			18	112	0	0	0	1	0	18	112					T	70639416	C	T	70639416	3	4	430	1	0	0	0	0	1	0	0	0	3676	652	23	1	508	1	COL19A1	6	70639416	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		70639416	100475651	9	36648											
ENPP1	5167	broad.mit.edu	37	chr6	132176133	132176133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaatatttacacacttggGgtggacttcttcctgttatt	8	8	1	1	rs147798392		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:132176133G>A	ENST00000360971.2	+	6	705	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	229	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)	ACACACTTGGGGTGGACTTCT	0.383																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				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						c.(685-687)Ggt>Agt		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)	G	SER/GLY	0,4406		0,0,2203	123	117	119		685	5.5	1	6	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPP1	NM_006208.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	229/926	132176133	1,13005	2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132176133G>A	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.685G>A	6.37:g.132176133G>A	ENSP00000354238:p.Gly229Ser						p.G229S	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	6	705	+	Breast(56;0.0505)		229			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.685G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554282	0.45487	0.0	1.16E-4	ENSG00000197594	ENST00000360971	T	0.71103	-0.54	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.185738	0.47093	D	0.000242	T	0.33962	0.0881	N	0.04655	-0.195	0.49798	D	0.999826	B	0.32653	0.379	B	0.37091	0.241	T	0.51560	-0.8690	10	0.02654	T	1	-13.7422	19.4196	0.94715	0.0:0.0:1.0:0.0	.	229	P22413	ENPP1_HUMAN	S	229	ENSP00000354238:G229S	ENSP00000354238:G229S	G	+	1	0	ENPP1	132217826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.342000	0.52159	2.576000	0.86940	0.455000	0.32223	GGT		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			10	179	0	0	0	1	0	10	179					A	132176133	G	A	132176133	3	1	430	1	0	0	0	0	1	0	0	0	5129	1232	43	2	707	2	ENPP1	6	132176133	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	61536717	132176133	38938934	10	36649											
HOXA11	3207	broad.mit.edu	37	chr7	27224643	27224643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggagtatgtcattgggcGcgaagacggggtctggggca	19	6	2	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr7:27224643G>A	ENST00000006015.3	-	1	192	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000479766.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	41					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCATTGGGCGCGAAGACGGG	0.552			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(121-123)Cgc>Tgc		homeobox A11							80	92	88					7																	27224643		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27224643G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"Homeoboxes / ANTP class : HOXL subclass"	5101	protein-coding gene	gene with protein product		142958	"homeo box A11"	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.121C>T	7.37:g.27224643G>A	ENSP00000006015:p.Arg41Cys		OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	p.R41C	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			1	192	-			41					A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.121C>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490258	0.44249	.	.	ENSG00000005073	ENST00000006015	T	0.41758	0.99	5.6	5.6	0.85130	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.054809	0.85682	D	0.000000	T	0.55625	0.1932	L	0.38953	1.18	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.48570	-0.9024	9	.	.	.	.	19.6187	0.95647	0.0:0.0:1.0:0.0	.	41	P31270	HXA11_HUMAN	C	41	ENSP00000006015:R41C	.	R	-	1	0	HOXA11	27191168	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.641000	0.83368	2.627000	0.88993	0.650000	0.86243	CGC		0.552	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			40	215	0	0	0	1	0	40	215					A	27224643	G	A	27224643	3	1	430	1	0	0	0	0	1	0	0	0	7290	1087	38	1	828	1	HOXA11	7	27224643	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		27224643	131914020	11	36650											
KIAA1161	57462	broad.mit.edu	37	chr9	34371189	34371189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagagaactgcatggccgGcataaaggcggccacttcca	12	11	0	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:34371189G>A	ENST00000297625.7	-	2	1876	c.1651C>T	c.(1651-1653)Ccg>Tcg	p.P551S		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	585					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGCATGGCCGGCATAAAGGCG	0.687																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1651-1653)Ccg>Tcg		KIAA1161							13	18	17					9																	34371189		1997	4151	6148	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371189G>A	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1651C>T	9.37:g.34371189G>A	ENSP00000297625:p.Pro551Ser						p.P551S	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1876	-			585					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.1651C>T		.	.	.	.	.	.	.	.	.	.	G	19.30	3.801960	0.70682	.	.	ENSG00000164976	ENST00000297625	D	0.96554	-4.05	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.97025	0.9746	10	0.27082	T	0.32	-20.6656	18.0551	0.89362	0.0:0.0:1.0:0.0	.	585	Q6NSJ0	K1161_HUMAN	S	551	ENSP00000297625:P551S	ENSP00000297625:P551S	P	-	1	0	KIAA1161	34361189	1.000000	0.71417	0.998000	0.56505	0.638000	0.38207	9.869000	0.99810	2.524000	0.85096	0.462000	0.41574	CCG		0.687	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		3	26	0	0	0	1	0	3	26					A	34371189	G	A	34371189	3	1	430	1	0	0	0	0	1	0	0	0	8211	1203	42	2	395	2	KIAA1161	9	34371189	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		34371189	106842242	12	36651											
TMC1	117531	broad.mit.edu	37	chr9	75355081	75355081	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaggggctcttgggaaaGgaaaaggaaaacggtggttt	16	3	1	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:75355081G>T	ENST00000297784.5	+	9	949	c.409G>T	c.(409-411)Gga>Tga	p.G137*	TMC1_ENST00000396237.3_Nonsense_Mutation_p.G137*|TMC1_ENST00000340019.3_Nonsense_Mutation_p.G137*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	137	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTTGGGAAAGGAAAAGGAAA	0.378																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(409-411)Gga>Tga		transmembrane channel-like 1							112	115	114					9																	75355081		2203	4300	6503	SO:0001587	stop_gained	117531				sensory perception of sound	integral to membrane		g.chr9:75355081G>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.409G>T	9.37:g.75355081G>T	ENSP00000297784:p.Gly137*					TMC1_ENST00000340019.3_Nonsense_Mutation_p.G137*|TMC1_ENST00000396237.3_Nonsense_Mutation_p.G137*	p.G137*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			9	949	+			137			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Nonsense_Mutation	SNP	ENST00000297784.5	37	c.409G>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	42	9.430976	0.99169	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-22.4835	15.1687	0.72850	0.0:0.0:1.0:0.0	.	.	.	.	X	137;137;104;104;104;131;137	.	ENSP00000297784:G137X	G	+	1	0	TMC1	74544901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.218000	0.77991	2.639000	0.89480	0.655000	0.94253	GGA		0.378	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			14	107	1	0	1.15088e-07	1	1.28789e-07	14	107					T	75355081	G	T	75355081	4	4	430	1	0	0	0	0	0	1	0	0	15981	1001	35	4	427	4	TMC1	9	75355081	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	40983892	75355081	65858350	13	36652											
ZBTB6	10773	broad.mit.edu	37	chr9	125674072	125674072	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagctctttccttttaacttCaagtgctccagtatagcaag	6	10	2	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:125674072C>A	ENST00000373659.3	-	2	368	c.280G>T	c.(280-282)Gaa>Taa	p.E94*		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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						CTTTTAACTTCAAGTGCTCCA	0.388																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						c.(280-282)Gaa>Taa		zinc finger and BTB domain containing 6							90	92	91					9																	125674072		2203	4300	6503	SO:0001587	stop_gained	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125674072C>A	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.280G>T	9.37:g.125674072C>A	ENSP00000362763:p.Glu94*						p.E94*	NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			2	368	-			94			BTB.		A8K8N6	Nonsense_Mutation	SNP	ENST00000373659.3	37	c.280G>T	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780743	0.90195	.	.	ENSG00000186130	ENST00000373659	.	.	.	6.17	6.17	0.99709	.	0.048921	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000362763:E94X	E	-	1	0	ZBTB6	124713893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.545000	0.60698	2.941000	0.99782	0.655000	0.94253	GAA		0.388	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		5	216	1	0	2.0095e-06	1	2.14651e-06	5	216					A	125674072	C	A	125674072	4	1	430	1	0	0	0	0	0	1	0	0	17549	835	29	4	998	4	ZBTB6	9	125674072	Nonsense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	50318991	125674072	15539359	14	36653											
FAM111A	63901	broad.mit.edu	37	chr11	58920410	58920410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaagacaaggaaacaaaCtacttttttgttgaaccttg	6	7	0	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr11:58920410C>A	ENST00000528737.1	+	5	4087	c.1269C>A	c.(1267-1269)aaC>aaA	p.N423K	FAM111A_ENST00000531147.1_Missense_Mutation_p.N423K|FAM111A_ENST00000420244.1_Missense_Mutation_p.N423K|FAM111A_ENST00000361723.3_Missense_Mutation_p.N423K|FAM111A_ENST00000533703.1_Missense_Mutation_p.N423K			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	423	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGGAAACAAACTACTTTTTTG	0.388																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1267-1269)aaC>aaA		family with sequence similarity 111, member A							114	117	116					11																	58920410		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920410C>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1269C>A	11.37:g.58920410C>A	ENSP00000434435:p.Asn423Lys					FAM111A_ENST00000533703.1_Missense_Mutation_p.N423K|FAM111A_ENST00000361723.3_Missense_Mutation_p.N423K|FAM111A_ENST00000531147.1_Missense_Mutation_p.N423K|FAM111A_ENST00000420244.1_Missense_Mutation_p.N423K	p.N423K			Q96PZ2	F111A_HUMAN			5	4087	+		all_epithelial(135;0.139)	423					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1269C>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	C	8.557	0.876783	0.17395	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.43	-1.35	0.09114	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.643585	0.16571	N	0.208646	T	0.16514	0.0397	N	0.10782	0.045	0.09310	N	1	B	0.21821	0.061	B	0.23574	0.047	T	0.10636	-1.0621	10	0.26408	T	0.33	-5.608	1.0619	0.01602	0.2583:0.383:0.1263:0.2324	.	423	Q96PZ2	F111A_HUMAN	K	423	ENSP00000434435:N423K;ENSP00000406683:N423K;ENSP00000355264:N423K;ENSP00000433154:N423K;ENSP00000431631:N423K	ENSP00000355264:N423K	N	+	3	2	FAM111A	58676986	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-3.778000	0.00368	0.050000	0.15949	0.655000	0.94253	AAC		0.388	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		4	161	1	0	0.150653	1	0.153929	4	161					A	58920410	C	A	58920410	3	1	430	1	0	0	0	0	1	0	0	0	5399	564	20	4	1275	4	FAM111A	11	58920410	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		58920410	76086106	15	36654											
KIF5A	3798	broad.mit.edu	37	chr12	57944094	57944094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagcatcaaggtgctcTgccgattccggcccctgaac	10	13	2	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:57944094T>C	ENST00000455537.2	+	1	314	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	KIF5A_ENST00000286452.5_Missense_Mutation_p.C14R|DCTN2_ENST00000548249.1_5'Flank	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	14	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)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGGTGCTCTGCCGATTCCG	0.597																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(40-42)Tgc>Cgc		kinesin family member 5A							94	82	86					12																	57944094		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57944094T>C	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.40T>C	12.37:g.57944094T>C	ENSP00000408979:p.Cys14Arg					KIF5A_ENST00000286452.5_Missense_Mutation_p.C14R	p.C14R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			1	314	+			14			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.40T>C	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784073	0.70222	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.73575	-0.76;-0.76	3.62	2.48	0.30137	Kinesin, motor domain (3);	0.049562	0.85682	D	0.000000	D	0.89026	0.6598	H	0.97465	4.01	0.47584	D	0.999469	D;D	0.89917	0.995;1.0	P;D	0.75484	0.848;0.986	D	0.88468	0.3060	10	0.59425	D	0.04	.	8.4736	0.32999	0.0:0.0984:0.0:0.9016	.	14;14	B7Z2M7;Q12840	.;KIF5A_HUMAN	R	14	ENSP00000408979:C14R;ENSP00000286452:C14R	ENSP00000286452:C14R	C	+	1	0	KIF5A	56230361	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.311000	0.78958	0.767000	0.33267	0.529000	0.55759	TGC		0.597	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		5	127	0	0	0	1	0	5	127					C	57944094	T	C	57944094	3	2	430	1	0	0	0	0	1	0	0	0	8305	1580	55	3	42	3	KIF5A	12	57944094	Missense_Mutation	SNP	T	TCGA-S9-A6WG-01A-11D-A33T-08		57944094	75907801	16	36655											
C12orf63	144535	broad.mit.edu	37	chr12	97051791	97051791	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatttgaaatggatccaCgactttgtattaaaatctct	7	6	1	2	rs114864261		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:97051791C>T	ENST00000524981.4	+	37	5255	c.5232C>T	c.(5230-5232)caC>caT	p.H1744H				Q96N23	CL055_HUMAN		0																	AATGGATCCACGACTTTGTAT	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		17242	0.0		0.0	False		,,,				2504	0.001					ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(583-585)caC>caT									110	117	115					12																	97051791		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr12:97051791C>T																												ENST00000524981.4:c.5232C>T	12.37:g.97051791C>T							p.H195H			Q6ZTY8	CL063_HUMAN			4	585	+			169						Silent	SNP	ENST00000524981.4	37	c.585C>T																																																																																					0.353	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			66	139	0	0	0	1	0	66	139					T	97051791	C	T	97051791	2	4	430	1	0	0	0	0	0	0	0	1	1706	535	19	1		1	C12orf63	12	97051791	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	39107697	97051791	36800104	17	36656											
GOLGA3	2802	broad.mit.edu	37	chr12	133353247	133353247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtagcccttccagTtccttcctgccctgctgctc	8	17	0	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:133353247T>C	ENST00000450791.2	-	20	4134	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000456883.2_Silent_p.E1317E|GOLGA3_ENST00000204726.3_Silent_p.E1317E			Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				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)		GCCCTTCCAGTTCCTTCCTGC	0.567																																						ENST00000204726.3																			0				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						c.(3949-3951)gaA>gaG		golgin A3							93	85	88					12																	133353247		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353247T>C	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.3951A>G	12.37:g.133353247T>C						GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4509	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1317			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3951A>G	CCDS9281.1																																																																																				0.567	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	162	0	0	0	1	0	4	162					C	133353247	T	C	133353247	2	2	430	1	0	0	0	0	0	0	0	1	6554	1722	60	3		3	GOLGA3	12	133353247	Silent	SNP	T	TCGA-S9-A6WG-01A-11D-A33T-08	36301456	133353247	498648	18	36657											
AKAP11	11215	broad.mit.edu	37	chr13	42876142	42876142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggtttgcatgtggaagAtaaacagaaagtcagagaca	12	4	1	4			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr13:42876142A>G	ENST00000025301.2	+	8	3435	c.3260A>G	c.(3259-3261)gAt>gGt	p.D1087G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1087					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)		CATGTGGAAGATAAACAGAAA	0.423																																						ENST00000025301.2																			0				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						c.(3259-3261)gAt>gGt		A kinase (PRKA) anchor protein 11							134	128	130					13																	42876142		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876142A>G	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.3260A>G	13.37:g.42876142A>G	ENSP00000025301:p.Asp1087Gly						p.D1087G	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3435	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1087					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3260A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273982	0.59649	.	.	ENSG00000023516	ENST00000025301	T	0.18174	2.23	5.8	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.20577	0.0495	M	0.64997	1.995	0.42698	D	0.993604	B	0.27997	0.197	B	0.28465	0.09	T	0.02385	-1.1167	10	0.72032	D	0.01	.	11.8304	0.52293	0.9317:0.0:0.0683:0.0	.	1087	Q9UKA4	AKA11_HUMAN	G	1087	ENSP00000025301:D1087G	ENSP00000025301:D1087G	D	+	2	0	AKAP11	41774142	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.462000	0.66707	1.020000	0.39573	0.533000	0.62120	GAT		0.423	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		17	149	0	0	0	1	0	17	149					G	42876142	A	G	42876142	3	3	430	1	0	0	0	0	1	0	0	0	447	333	12	3	3282	3	AKAP11	13	42876142	Missense_Mutation	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		42876142	72293736	19	36658											
NQO1	1728	broad.mit.edu	37	chr16	69746992	69746992	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgcagagagtacatggagCcactgccaccagtggtgatg	13	10	0	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr16:69746992C>G	ENST00000320623.5	-	5	969	c.458G>C	c.(457-459)gGc>gCc	p.G153A	NQO1_ENST00000564043.1_Missense_Mutation_p.G132A|NQO1_ENST00000379046.2_Missense_Mutation_p.G115A|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000379047.3_Intron|NQO1_ENST00000561500.1_Missense_Mutation_p.G115A|NQO1_ENST00000439109.2_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	153					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GTACATGGAGCCACTGCCACC	0.438																																						ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(457-459)gGc>gCc		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						150	144	146					16																	69746992		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69746992C>G	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.458G>C	16.37:g.69746992C>G	ENSP00000319788:p.Gly153Ala					NQO1_ENST00000439109.2_Intron|NQO1_ENST00000379046.2_Missense_Mutation_p.G115A|NQO1_ENST00000379047.3_Intron|NQO1_ENST00000564043.1_Missense_Mutation_p.G132A|NQO1_ENST00000561500.1_Missense_Mutation_p.G115A	p.G153A	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			5	969	-			153					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.458G>C	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	7.480	0.648544	0.14516	.	.	ENSG00000181019	ENST00000320623;ENST00000379046	T;T	0.08458	3.09;3.27	5.91	2.95	0.34219	Flavodoxin-like fold (1);	0.453841	0.25720	N	0.028760	T	0.02342	0.0072	N	0.01410	-0.885	0.34634	D	0.719947	B;B	0.17038	0.02;0.005	B;B	0.16722	0.016;0.005	T	0.38329	-0.9666	9	.	.	.	-0.8028	5.3415	0.15986	0.0:0.6156:0.1469:0.2375	.	115;153	B4DNM7;P15559	.;NQO1_HUMAN	A	153;115	ENSP00000319788:G153A;ENSP00000368334:G115A	.	G	-	2	0	NQO1	68304493	0.115000	0.22152	0.340000	0.25575	0.961000	0.63080	0.777000	0.26718	0.417000	0.25871	0.655000	0.94253	GGC		0.438	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			4	241	0	0	0	1	0	4	241					G	69746992	C	G	69746992	3	3	430	1	0	0	0	0	1	0	0	0	10611	739	26	4	374	4	NQO1	16	69746992	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		69746992	20607761	20	36659											
SPNS3	201305	broad.mit.edu	37	chr17	4352554	4352554	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtttcgtgtggtcgaccctCggagtgaccgccatggcctt	13	12	0	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:4352554C>T	ENST00000355530.2	+	7	1075	c.795C>T	c.(793-795)ctC>ctT	p.L265L	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Silent_p.L138L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	265					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						GGTCGACCCTCGGAGTGACCG	0.657																																						ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(793-795)ctC>ctT		spinster homolog 3 (Drosophila)							97	89	92					17																	4352554		2203	4300	6503	SO:0001819	synonymous_variant	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4352554C>T		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.795C>T	17.37:g.4352554C>T						SPNS3_ENST00000333476.2_Silent_p.L138L|SPNS3_ENST00000576069.1_Intron	p.L265L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			7	1075	+			265					Q8IZ31	Silent	SNP	ENST00000355530.2	37	c.795C>T	CCDS11045.1																																																																																				0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		61	157	0	0	0	1	0	61	157					T	4352554	C	T	4352554	2	4	430	1	0	0	0	0	0	0	0	1	15075	871	31	1		1	SPNS3	17	4352554	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		4352554	76842656	21	36660											
TP53	7157	broad.mit.edu	37	chr17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtcccaagacttagtacctGaagggtgaaatattctccat	9	9	1	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)	CTTAGTACCTGAAGGGTGAAA	0.448		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(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						c.(991-993)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							115	108	110					17																	7576855		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576855G>A	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.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1123	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.991C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	93	0	0	0	1	0	28	93					A	7576855	G	A	7576855	4	1	430	1	0	0	0	0	0	1	0	0	16378	1299	45	2	291	2	TP53	17	7576855	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	3224301	7576855	73618355	22	36661											
TP53	7157	broad.mit.edu	37	chr17	7578388	7578388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatcgctatctgagcagCgctcatggtgggggcagcgc	14	13	2	1	rs397514495		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7578388C>T	ENST00000269305.4	-	5	731	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R181H|TP53_ENST00000420246.2_Missense_Mutation_p.R181H|TP53_ENST00000413465.2_Missense_Mutation_p.R181H|TP53_ENST00000359597.4_Missense_Mutation_p.R181H	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	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (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.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)	ATCTGAGCAGCGCTCATGGTG	0.637		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		80	Substitution - Missense(41)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	p.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(17)|upper_aerodigestive_tract(14)|ovary(7)|central_nervous_system(6)|lung(6)|bone(5)|breast(5)|oesophagus(4)|urinary_tract(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|pancreas(2)|prostate(2)|kidney(1)|biliary_tract(1)|endometrium(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	GRCh37	CM056067|CM920671|CM942120	TP53	M		c.(541-543)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578388		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578388C>T	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.542G>A	17.37:g.7578388C>T	ENSP00000269305:p.Arg181His	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)				TP53_ENST00000413465.2_Missense_Mutation_p.R181H|TP53_ENST00000445888.2_Missense_Mutation_p.R181H|TP53_ENST00000359597.4_Missense_Mutation_p.R181H|TP53_ENST00000269305.4_Missense_Mutation_p.R181H|TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR	p.R181H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	674	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	181		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.542G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821159	0.71028	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.26	4.28	0.50868	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	0.99632	0.9865	M	0.69523	2.12	0.49389	D	0.999785	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.996;0.999;0.992;0.999;1.0	P;D;P;P;D;D;D	0.69824	0.875;0.928;0.822;0.842;0.942;0.966;0.938	D	0.97702	1.0185	10	0.87932	D	0	-14.2374	13.4086	0.60929	0.1583:0.8417:0.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181H;ENSP00000352610:R181H;ENSP00000269305:R181H;ENSP00000398846:R181H;ENSP00000391127:R181H;ENSP00000391478:R181H;ENSP00000425104:R49H;ENSP00000423862:R88H	ENSP00000269305:R181H	R	-	2	0	TP53	7519113	0.764000	0.28473	0.996000	0.52242	0.802000	0.45316	1.201000	0.32259	1.345000	0.45676	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	75	0	0	0	1	0	28	75					T	7578388	C	T	7578388	3	4	430	1	0	0	0	0	1	0	0	0	16378	768	27	1	756	1	TP53	17	7578388	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	1533	7578388	73616822	23	36662											
HEXIM2	124790	broad.mit.edu	37	chr17	43246712	43246712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccgcgaagagatgttcGccaaaggccagcccgtggcc	15	13	0	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:43246712G>A	ENST00000307275.3	+	4	833	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.A133T|HEXIM2_ENST00000592695.1_Missense_Mutation_p.A133T|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	133					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						AGAGATGTTCGCCAAAGGCCA	0.627																																						ENST00000307275.3																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(397-399)Gcc>Acc		hexamethylene bis-acetamide inducible 2							37	41	40					17																	43246712		2203	4300	6503	SO:0001583	missense	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246712G>A	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.397G>A	17.37:g.43246712G>A	ENSP00000302276:p.Ala133Thr					HEXIM2_ENST00000592695.1_Missense_Mutation_p.A133T|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000591576.1_Missense_Mutation_p.A133T	p.A133T	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN			4	833	+			133					D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	c.397G>A	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222702	0.95139	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.67953	2.075	0.47949	D	0.99955	D	0.76494	0.999	D	0.65773	0.938	T	0.79147	-0.1923	9	0.72032	D	0.01	-17.6365	16.5161	0.84301	0.0:0.0:1.0:0.0	.	133	Q96MH2	HEXI2_HUMAN	T	133	.	ENSP00000302276:A133T	A	+	1	0	HEXIM2	40602495	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	6.258000	0.72487	2.553000	0.86117	0.561000	0.74099	GCC		0.627	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		15	83	0	0	0	1	0	15	83					A	43246712	G	A	43246712	3	1	430	1	0	0	0	0	1	0	0	0	7077	1087	38	1	403	1	HEXIM2	17	43246712	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	35668324	43246712	37948498	24	36663											
CYP4F22	126410	broad.mit.edu	37	chr19	15648180	15648180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctccacagctgccatcGcccccaaggatgacctcttc	7	19	1	1	rs146689227		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:15648180G>A	ENST00000269703.3	+	5	575	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A126T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	126						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCTGCCATCGCCCCCAAGGA	0.507																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(376-378)Gcc>Acc		cytochrome P450, family 4, subfamily F, polypeptide 22							84	86	86					19																	15648180		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648180G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.376G>A	19.37:g.15648180G>A	ENSP00000269703:p.Ala126Thr					CYP4F22_ENST00000601005.2_Missense_Mutation_p.A126T	p.A126T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			5	575	+			126					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.376G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102287	0.76983	.	.	ENSG00000171954	ENST00000269703	T	0.68025	-0.3	4.56	4.56	0.56223	.	0.322090	0.27433	U	0.019396	T	0.62612	0.2442	N	0.21448	0.665	0.37237	D	0.905933	P	0.50066	0.931	P	0.54238	0.746	T	0.61103	-0.7130	10	0.13853	T	0.58	.	14.8492	0.70284	0.0:0.0:1.0:0.0	.	126	Q6NT55	CP4FN_HUMAN	T	126	ENSP00000269703:A126T	ENSP00000269703:A126T	A	+	1	0	CYP4F22	15509180	1.000000	0.71417	0.035000	0.18076	0.748000	0.42578	5.409000	0.66374	2.093000	0.63338	0.313000	0.20887	GCC		0.507	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		37	110	0	0	0	1	0	37	110					A	15648180	G	A	15648180	3	1	430	1	0	0	0	0	1	0	0	0	4189	1087	38	1	386	1	CYP4F22	19	15648180	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		15648180	43480803	25	36664											
ATF5	22809	broad.mit.edu	37	chr19	50436053	50436053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcctctgcccccgccacagCagccccctcctccttctcca	5	25	2	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:50436053C>A	ENST00000423777.2	+	3	930	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	ATF5_ENST00000595125.1_Missense_Mutation_p.Q185K|MIR4751_ENST00000578027.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	185	Interaction with PTP4A1. {ECO:0000250}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCCGCCACAGCAGCCCCCTCC	0.647																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(553-555)Cag>Aag		activating transcription factor 5							31	24	26					19																	50436053		2202	4298	6500	SO:0001583	missense	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436053C>A	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.553C>A	19.37:g.50436053C>A	ENSP00000396954:p.Gln185Lys					ATF5_ENST00000595125.1_Missense_Mutation_p.Q185K|CTC-326K19.6_ENST00000451973.1_Intron	p.Q185K	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	930	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	185			Interaction with PTP4A1 (By similarity).		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	c.553C>A	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.734384	0.00687	.	.	ENSG00000169136	ENST00000423777	T	0.48522	0.81	2.77	1.67	0.24075	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.32159	N	0.583241	B	0.31100	0.308	B	0.29440	0.102	T	0.31223	-0.9951	9	0.06236	T	0.91	-1.4214	9.5783	0.39472	0.0:0.7828:0.2172:0.0	.	185	Q9Y2D1	ATF5_HUMAN	K	185	ENSP00000396954:Q185K	ENSP00000396954:Q185K	Q	+	1	0	ATF5	55127865	0.259000	0.24043	0.876000	0.34364	0.066000	0.16364	1.451000	0.35145	0.700000	0.31782	0.448000	0.29417	CAG		0.647	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			3	22	1	0	1	1	1	3	22					A	50436053	C	A	50436053	3	1	430	1	0	0	0	0	1	0	0	0	1083	711	25	4	559	4	ATF5	19	50436053	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	34787873	50436053	8692930	26	36665											
ZNF677	342926	broad.mit.edu	37	chr19	53747061	53747061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagttctccaacatcacGtccctgtacaaggccctctg	7	15	3	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:53747061G>A	ENST00000598513.1	-	4	255	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF677_ENST00000599012.1_Silent_p.D35D|ZNF677_ENST00000594681.1_Silent_p.D35D|ZNF677_ENST00000601828.1_Silent_p.D35D|ZNF677_ENST00000601413.1_Silent_p.D35D|CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Silent_p.D35D|ZNF677_ENST00000598806.1_Silent_p.D35D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	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)			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)		CCAACATCACGTCCCTGTACA	0.468																																						ENST00000333952.4																			0				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						c.(103-105)gaC>gaT		zinc finger protein 677							120	110	113					19																	53747061		2203	4300	6503	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53747061G>A	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.105C>T	19.37:g.53747061G>A						ZNF677_ENST00000601828.1_Silent_p.D35D|ZNF677_ENST00000601413.1_Silent_p.D35D|ZNF677_ENST00000599012.1_Silent_p.D35D|ZNF677_ENST00000598806.1_Silent_p.D35D|ZNF677_ENST00000598513.1_Silent_p.D35D|ZNF677_ENST00000594681.1_Silent_p.D35D	p.D35D			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	4	270	-			35			KRAB.			Silent	SNP	ENST00000598513.1	37	c.105C>T	CCDS12861.1																																																																																				0.468	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		46	122	0	0	0	1	0	46	122					A	53747061	G	A	53747061	2	1	430	1	0	0	0	0	0	0	0	1	18081	1136	40	1		1	ZNF677	19	53747061	Silent	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	3311008	53747061	5381922	27	36666											
RAE1	8480	broad.mit.edu	37	chr20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagcctactggttttgCcctgggaagtatcgagggga	14	8	0	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000371242.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000395840.2_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|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 export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398																																						ENST00000395841.2																			1	Substitution - Missense(1)	p.A232V(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(694-696)gCc>gTc		ribonucleic acid export 1							119	119	119					20																	55948583		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948583C>T	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.695C>T	20.37:g.55948583C>T	ENSP00000379182:p.Ala232Val					RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V	p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1115	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		232					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.695C>T	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276651	0.95459	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100190	0.64402	D	0.000002	D	0.82407	0.5030	M	0.63843	1.955	0.80722	D	1	D;P;P	0.76494	0.999;0.846;0.846	D;B;B	0.72338	0.977;0.162;0.162	T	0.79262	-0.1876	10	0.36615	T	0.2	-28.5582	18.7213	0.91694	0.0:1.0:0.0:0.0	.	232;232;232	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	V	232	ENSP00000379182:A232V;ENSP00000360286:A232V;ENSP00000432609:A232V;ENSP00000379181:A232V	ENSP00000360286:A232V	A	+	2	0	RAE1	55381990	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.270000	0.78493	2.865000	0.98341	0.655000	0.94253	GCC		0.398	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			4	164	0	0	0	1	0	4	164					T	55948583	C	T	55948583	3	4	430	1	0	0	0	0	1	0	0	0	12998	739	26	2	725	2	RAE1	20	55948583	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		55948583	7076937	28	36667											
ZNF831	128611	broad.mit.edu	37	chr20	57768604	57768604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgtgagcgcagagaccCcaggtgggcccacgcagcct	14	15	0	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:57768604C>T	ENST00000371030.2	+	1	2530	c.2530C>T	c.(2530-2532)Cca>Tca	p.P844S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	844							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)					CGCAGAGACCCCAGGTGGGCC	0.642																																						ENST00000371030.2																			0				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						c.(2530-2532)Cca>Tca		zinc finger protein 831							28	35	33					20																	57768604		2029	4197	6226	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768604C>T	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.2530C>T	20.37:g.57768604C>T	ENSP00000360069:p.Pro844Ser						p.P844S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2530	+	all_lung(29;0.0085)		844					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2530C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	1.852	-0.464738	0.04476	.	.	ENSG00000124203	ENST00000371030	T	0.03607	3.87	4.77	2.79	0.32731	.	1.224930	0.05716	N	0.596832	T	0.02494	0.0076	N	0.11560	0.145	0.09310	N	1	P	0.34977	0.478	B	0.29267	0.1	T	0.45366	-0.9266	10	0.48119	T	0.1	-0.0027	6.5044	0.22186	0.1785:0.725:0.0:0.0965	.	844	Q5JPB2	ZN831_HUMAN	S	844	ENSP00000360069:P844S	ENSP00000360069:P844S	P	+	1	0	ZNF831	57201999	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.438000	0.21559	0.509000	0.28195	0.561000	0.74099	CCA		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	80	0	0	0	1	0	4	80					T	57768604	C	T	57768604	3	4	430	1	0	0	0	0	1	0	0	0	18182	623	22	2	2532	2	ZNF831	20	57768604	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	1820021	57768604	5256916	29	36668											
CDH4	1002	broad.mit.edu	37	chr20	60499460	60499460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacggccagatcaccacggCggcagtgctggaccgtgagt	14	13	1	2	rs1051676		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:60499460C>T	ENST00000360469.5	+	11	1785	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	CDH4_ENST00000543233.1_Missense_Mutation_p.A492V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	566	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.			A -> V (in Ref. 1; AAA35627 and 6; no nucleotide entry). {ECO:0000305}.	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)			ATCACCACGGCGGCAGTGCTG	0.612																																						ENST00000360469.5																			0				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						c.(1696-1698)gCg>gTg		cadherin 4, type 1, R-cadherin (retinal)		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	115	89	98		1697	4.4	0.1	20	dbSNP_86	98	0,8600		0,0,4300	no	missense	CDH4	NM_001794.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	566/917	60499460	1,13005	2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60499460C>T	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.1697C>T	20.37:g.60499460C>T	ENSP00000353656:p.Ala566Val					CDH4_ENST00000543233.1_Missense_Mutation_p.A492V	p.A566V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		11	1785	+			566	A -> V (in Ref. 1; AAA35627 and 4; no nucleotide entry).		Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1697C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.184831	0.01620	2.27E-4	0.0	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51071	0.72;0.72	4.44	4.44	0.53790	Cadherin (4);Cadherin-like (1);	0.170141	0.52532	D	0.000063	T	0.42404	0.1201	L	0.31476	0.935	0.34968	D	0.752891	P	0.43169	0.8	P	0.44561	0.453	T	0.53648	-0.8409	9	.	.	.	.	17.0744	0.86582	0.0:1.0:0.0:0.0	rs1051676	566	P55283	CADH4_HUMAN	V	566;474;492	ENSP00000353656:A566V;ENSP00000443301:A492V	.	A	+	2	0	CDH4	59932855	0.002000	0.14202	0.083000	0.20561	0.009000	0.06853	0.578000	0.23773	2.025000	0.59659	0.561000	0.74099	GCG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		12	102	0	0	0	1	0	12	102					T	60499460	C	T	60499460	3	4	430	1	0	0	0	0	1	0	0	0	3112	768	27	1	1739	1	CDH4	20	60499460	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	2730856	60499460	2526060	30	36669											
APOBEC3C	27350	broad.mit.edu	37	chr22	39414020	39414020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcagcctgagtcaggaaGgggtcgctgtggagatcatg	16	9	2	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr22:39414020G>A	ENST00000361441.4	+	3	704	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	142					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GAGTCAGGAAGGGGTCGCTGT	0.592																																						ENST00000361441.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(424-426)Ggg>Agg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C							113	118	116					22																	39414020		2203	4300	6503	SO:0001583	missense	27350				DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding	g.chr22:39414020G>A	AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"Apolipoprotein B mRNA editing enzymes"	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.424G>A	22.37:g.39414020G>A	ENSP00000355340:p.Gly142Arg					APOBEC3D_ENST00000381568.4_Intron	p.G142R	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN			3	704	+	Melanoma(58;0.04)		142					B2R884|Q5JZ92|Q7Z2N7|Q96F12	Missense_Mutation	SNP	ENST00000361441.4	37	c.424G>A	CCDS13983.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.749879	0.30955	.	.	ENSG00000244509	ENST00000361441	T	0.76186	-1.0	2.01	0.978	0.19740	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.81083	0.4749	M	0.76433	2.335	0.21416	N	0.999695	D	0.59357	0.985	D	0.63381	0.914	T	0.67209	-0.5728	9	0.46703	T	0.11	.	6.6366	0.22887	0.1641:0.0:0.8359:0.0	.	142	Q9NRW3	ABC3C_HUMAN	R	142	ENSP00000355340:G142R	ENSP00000355340:G142R	G	+	1	0	APOBEC3C	37743966	0.995000	0.38212	0.002000	0.10522	0.002000	0.02628	2.436000	0.44819	0.419000	0.25927	0.479000	0.44913	GGG		0.592	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508		4	289	0	0	0	1	0	4	289					A	39414020	G	A	39414020	3	1	430	1	0	0	0	0	1	0	0	0	791	1000	35	2	434	2	APOBEC3C	22	39414020	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		39414020	11890546	31	36670											
ATRX	546	broad.mit.edu	37	chrX	76875920	76875920	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatcctcctccttgatcGtatagaattcatagctttag	5	9	1	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:76875920G>A	ENST00000373344.5	-	20	5429	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.R1739*(1)|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						CTCCTTGATCGTATAGAATTC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.R1739*(1)|p.?(1)	central_nervous_system(1)|bone(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						c.(5215-5217)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						78	65	70					X																	76875920		2202	4293	6495	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875920G>A	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.5215C>T	X.37:g.76875920G>A	ENSP00000362441:p.Arg1739*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*	p.R1739*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5429	-			1739			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.5215C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267367	0.95399	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	4.57	3.61	0.41365	.	0.171135	0.37623	N	0.002005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.805	11.8455	0.52381	0.0:0.0:0.4784:0.5215	.	.	.	.	X	1739;1701	.	ENSP00000362441:R1739X	R	-	1	2	ATRX	76762576	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.134000	0.42102	0.560000	0.29169	0.600000	0.82982	CGA		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		51	43	0	0	0	1	0	51	43					A	76875920	G	A	76875920	4	1	430	1	0	0	0	0	0	1	0	0	1208	1153	40	1	2327	1	ATRX	23	76875920	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		76875920	78394640	32	36671											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	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																																						ENST00000372129.2																			0				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						c.(1771-1773)gaafs		insulin receptor substrate 4				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					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	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						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	315						8	315	---	---	---	---	C	107977803	-	C	107977802	7	5	430	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-S9-A6WG-01A-11D-A33T-08	31101882	107977802	47292758	33	36672											
FMR1	2332	broad.mit.edu	37	chrX	147014240	147014240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaagctagaagctttctcGaatttgctgaagatgtaata	8	5	1	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:147014240G>A	ENST00000370475.4	+	9	966	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FMR1_ENST00000218200.8_Missense_Mutation_p.E280K|FMR1_ENST00000334557.6_Missense_Mutation_p.E280K|FMR1_ENST00000370470.1_Missense_Mutation_p.E280K|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Missense_Mutation_p.E280K|FMR1_ENST00000370471.3_Missense_Mutation_p.E280K|FMR1_ENST00000370477.1_Missense_Mutation_p.E280K	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	280					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)					AAGCTTTCTCGAATTTGCTGA	0.343									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(838-840)Gaa>Aaa		fragile X mental retardation 1							75	73	74					X																	147014240		2201	4300	6501	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014240G>A	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.838G>A	X.37:g.147014240G>A	ENSP00000359506:p.Glu280Lys					FMR1_ENST00000334557.6_Missense_Mutation_p.E280K|FMR1_ENST00000439526.2_Missense_Mutation_p.E280K|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370477.1_Missense_Mutation_p.E280K|FMR1_ENST00000370471.3_Missense_Mutation_p.E280K|FMR1_ENST00000370475.4_Missense_Mutation_p.E280K|FMR1_ENST00000370470.1_Missense_Mutation_p.E280K	p.E280K	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			9	1067	+	Acute lymphoblastic leukemia(192;6.56e-05)		280					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.838G>A	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	36	5.710950	0.96821	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.85	5.85	0.93711	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.87547	2.89	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	0.91635	0.999;0.999;0.993;0.983;0.994	T	0.76116	-0.3077	10	0.87932	D	0	-16.2849	17.9846	0.89152	0.0:0.0:1.0:0.0	.	280;280;196;280;280	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	K	280	ENSP00000218200:E280K;ENSP00000359502:E280K;ENSP00000359508:E280K;ENSP00000359506:E280K;ENSP00000355115:E280K;ENSP00000395923:E280K;ENSP00000359501:E280K	ENSP00000218200:E280K	E	+	1	0	FMR1	146821932	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.735000	0.98825	2.469000	0.83416	0.538000	0.68166	GAA		0.343	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		6	107	0	0	0	1	0	6	107					A	147014240	G	A	147014240	3	1	430	1	0	0	0	0	1	0	0	0	5960	1059	37	1	872	1	FMR1	23	147014240	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	39036438	147014240	8256320	34	36673											
L1CAM	3897	broad.mit.edu	37	chrX	153133891	153133891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgattgtgctgcggggCccctgagtgatctgagttgc	14	10	2	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:153133891C>T	ENST00000370060.1	-	14	1758	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	L1CAM_ENST00000543994.1_Silent_p.G525G|L1CAM_ENST00000361699.4_Silent_p.G523G|L1CAM_ENST00000370055.1_Silent_p.G518G|L1CAM_ENST00000370057.3_Silent_p.G523G|L1CAM_ENST00000538883.1_Silent_p.G525G|L1CAM_ENST00000361981.3_Silent_p.G518G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	523	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)					TGCTGCGGGGCCCCTGAGTGA	0.617																																						ENST00000370060.1																			0				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						c.(1567-1569)ggG>ggA		L1 cell adhesion molecule							113	119	117					X																	153133891		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133891C>T	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.1569G>A	X.37:g.153133891C>T						L1CAM_ENST00000370055.1_Silent_p.G518G|L1CAM_ENST00000370057.3_Silent_p.G523G|L1CAM_ENST00000543994.1_Silent_p.G525G|L1CAM_ENST00000361699.4_Silent_p.G523G|L1CAM_ENST00000361981.3_Silent_p.G518G|L1CAM_ENST00000538883.1_Silent_p.G525G	p.G523G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			14	1758	-	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)		523			Ig-like C2-type 6.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.1569G>A	CCDS14733.1																																																																																				0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		60	146	0	0	0	1	0	60	146					T	153133891	C	T	153133891	2	4	430	1	0	0	0	0	0	0	0	1	8588	726	26	2		2	L1CAM	23	153133891	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	6119651	153133891	2136669	35	36674											
PLCH2	9651	broad.mit.edu	37	chr1	2436221	2436221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagctttgagggcggctccCgcagactgagccacagcctg	13	14	0	3	rs375251663		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:2436221C>T	ENST00000419816.2	+	22	4094	c.3820C>T	c.(3820-3822)Cgc>Tgc	p.R1274C	PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1274C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1274					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCGGCTCCCGCAGACTGAG	0.687																																						ENST00000419816.2																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(3820-3822)Cgc>Tgc		phospholipase C, eta 2		C	CYS/ARG	0,4086		0,0,2043	18	22	21		3820	-1.7	0	1		21	1,8279		0,1,4139	no	missense	PLCH2	NM_014638.2	180	0,1,6182	TT,TC,CC		0.0121,0.0,0.0081	probably-damaging	1274/1417	2436221	1,12365	2043	4140	6183	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2436221C>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3820C>T	1.37:g.2436221C>T	ENSP00000389803:p.Arg1274Cys					PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1274C	p.R1274C			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	22	4094	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	1274					A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.3820C>T		.	.	.	.	.	.	.	.	.	.	C	10.98	1.505266	0.26949	0.0	1.21E-4	ENSG00000149527	ENST00000378486;ENST00000378488;ENST00000278878	T;T	0.27557	1.78;1.66	2.62	-1.68	0.08212	.	5.923810	0.00496	N	0.000141	T	0.28599	0.0708	L	0.39898	1.24	0.22933	N	0.998546	D;D	0.60575	0.988;0.988	P;P	0.44477	0.451;0.451	T	0.38067	-0.9678	10	0.72032	D	0.01	.	6.4369	0.21829	0.4461:0.4141:0.1399:0.0	.	1026;1274	B9DI82;O75038	.;PLCH2_HUMAN	C	1274;1238;1026	ENSP00000367747:R1274C;ENSP00000367749:R1238C	ENSP00000278878:R1026C	R	+	1	0	PLCH2	2426081	0.143000	0.22626	0.008000	0.14137	0.085000	0.17905	0.067000	0.14510	-0.102000	0.12197	0.491000	0.48974	CGC		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		13	22	0	0	0	1	0	13	22					T	2436221	C	T	2436221	3	4	431	1	0	0	0	0	1	0	0	0	12038	652	23	1	3906	1	PLCH2	1	2436221	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		2436221	246814400	1	36675											
PANK4	55229	broad.mit.edu	37	chr1	2452693	2452693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacttaatgaagtgcagtCgagcagtgatctcttcttga	9	8	2	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:2452693C>T	ENST00000378466.3	-	3	281	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Missense_Mutation_p.R90Q	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	90					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAAGTGCAGTCGAGCAGTGAT	0.502																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(268-270)cGa>cAa		pantothenate kinase 4							163	164	164					1																	2452693		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2452693C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.269G>A	1.37:g.2452693C>T	ENSP00000367727:p.Arg90Gln					PANK4_ENST00000435556.3_Missense_Mutation_p.R90Q	p.R90Q	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	3	281	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	90					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.269G>A	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269648	0.80469	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99586	-6.23;-4.16	4.74	4.74	0.60224	.	0.140688	0.48767	D	0.000180	D	0.99576	0.9847	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.98001	1.0360	10	0.72032	D	0.01	-25.5754	16.6921	0.85324	0.0:1.0:0.0:0.0	.	90;90	E9PHT6;Q9NVE7	.;PANK4_HUMAN	Q	90	ENSP00000367727:R90Q;ENSP00000421433:R90Q	ENSP00000367727:R90Q	R	-	2	0	PANK4	2442553	1.000000	0.71417	0.101000	0.21167	0.460000	0.32559	7.132000	0.77251	2.177000	0.69029	0.462000	0.41574	CGA		0.502	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			4	165	0	0	0	1	0	4	165					T	2452693	C	T	2452693	3	4	431	1	0	0	0	0	1	0	0	0	11419	884	31	1	2120	1	PANK4	1	2452693	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	16472	2452693	246797928	2	36676											
TMEM201	199953	broad.mit.edu	37	chr1	9661304	9661304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccactgtgcccctggccCtgccacctggtggcaatggc	12	17	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:9661304C>T	ENST00000340381.6	+	5	757	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TMEM201_ENST00000340305.5_Silent_p.L250L|TMEM201_ENST00000377376.4_Silent_p.L250L	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCCTGGCCCTGCCACCTGG	0.697																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(748-750)Ctg>Ttg		transmembrane protein 201							45	47	47					1																	9661304		2203	4298	6501	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661304C>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.748C>T	1.37:g.9661304C>T						TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	757	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	250					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.748C>T	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145426	0.21288	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	4.0	0.46444	.	.	.	.	.	T	0.59649	0.2209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56013	-0.8049	4	.	.	.	-15.5829	9.6369	0.39814	0.0:0.8934:0.0:0.1066	.	.	.	.	L	159	.	.	P	+	2	0	TMEM201	9583891	0.990000	0.36364	0.998000	0.56505	0.924000	0.55760	0.753000	0.26376	0.966000	0.38159	0.563000	0.77884	CCT		0.697	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		12	26	0	0	0	1	0	12	26					T	9661304	C	T	9661304	2	4	431	1	0	0	0	0	0	0	0	1	16123	680	24	2		2	TMEM201	1	9661304	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	7208611	9661304	239589317	3	36677											
NMNAT1	64802	broad.mit.edu	37	chr1	10042595	10042595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacatctcatccacaaaaAtccggagagccctcagaagg	8	12	2	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:10042595A>G	ENST00000377205.1	+	5	820	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	226					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		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;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCACAAAAATCCGGAGAGC	0.448																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(676-678)Atc>Gtc		nicotinamide nucleotide adenylyltransferase 1							81	79	80					1																	10042595		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10042595A>G	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9"	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.676A>G	1.37:g.10042595A>G	ENSP00000366410:p.Ile226Val						p.I226V	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	5	820	+		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)	226					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.676A>G	CCDS108.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796424	0.31777	.	.	ENSG00000173614	ENST00000377205	D	0.98849	-5.18	5.01	5.01	0.66863	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.063492	0.64402	D	0.000008	D	0.95439	0.8519	N	0.16833	0.445	0.58432	D	0.999993	P	0.39022	0.655	B	0.39771	0.309	D	0.95371	0.8464	10	0.12430	T	0.62	-0.3038	15.0172	0.71594	1.0:0.0:0.0:0.0	.	226	Q9HAN9	NMNA1_HUMAN	V	226	ENSP00000366410:I226V	ENSP00000366410:I226V	I	+	1	0	NMNAT1	9965182	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	4.883000	0.63128	2.005000	0.58758	0.379000	0.24179	ATC		0.448	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			71	11	0	0	0	1	0	71	11					G	10042595	A	G	10042595	3	3	431	1	0	0	0	0	1	0	0	0	10498	101	4	3	690	3	NMNAT1	1	10042595	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	381291	10042595	239208026	4	36678											
UBR4	23352	broad.mit.edu	37	chr1	19523634	19523634	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatataataacttctcaCctgcatacagacaacttagg	5	11	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:19523634C>T	ENST00000375254.3	-	8	1046		c.e8+1		UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375267.2_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						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)		TAACTTCTCACCTGCATACAG	0.428																																						ENST00000375267.2																			0				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						c.e8+1		ubiquitin protein ligase E3 component n-recognin 4							131	119	123					1																	19523634		2203	4300	6503	SO:0001630	splice_region_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19523634C>T	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.1018+1G>A	1.37:g.19523634C>T						UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site				Q5T4S7	UBR4_HUMAN		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)	8	1022	-		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)						A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	SNP	ENST00000375254.3	37		CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540105	0.85917	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9374	0.92590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR4	19396221	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.440000	0.80464	2.820000	0.97059	0.650000	0.86243	.		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Intron	20	83	0	0	0	1	0	20	83					T	19523634	C	T	19523634	5	4	431	1	0	0	0	0	0	0	1	0	16901	521	18	2	14928	2	UBR4	1	19523634	Splice_Site	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9481039	19523634	229726987	5	36679											
RIMKLA	284716	broad.mit.edu	37	chr1	42880615	42880615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctacaacattaacaaCaggattgcttctgagttaaa	7	9	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:42880615C>T	ENST00000431473.3	+	5	1275	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	382					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						ACATTAACAACAGGATTGCTT	0.458																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1144-1146)aaC>aaT		ribosomal modification protein rimK-like family member A							64	74	71					1																	42880615		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880615C>T	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.1146C>T	1.37:g.42880615C>T							p.N382N	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1275	+			382					Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.1146C>T	CCDS466.2																																																																																				0.458	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		12	133	0	0	0	1	0	12	133					T	42880615	C	T	42880615	2	4	431	1	0	0	0	0	0	0	0	1	13365	477	17	2		2	RIMKLA	1	42880615	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23356981	42880615	206370006	6	36680											
TNNI3K	100144878	broad.mit.edu	37	chr1	74954885	74954885	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttacagggaagacccgaaTtttctgaagttgtcatgaag	10	6	2	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:74954885T>A	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.F813I|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.F826I			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						AAGACCCGAATTTTCTGAAGT	0.348																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2437-2439)Ttt>Att		TNNI3 interacting kinase							74	86	82					1																	74954885		2203	4300	6503	SO:0001627	intron_variant	51086							g.chr1:74954885T>A			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5826A>T	1.37:g.74954885T>A						FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.F813I|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I	p.F813I	NM_001112808.2	NP_001106279.1					24	2453	+									Missense_Mutation	SNP	ENST00000294635.4	37	c.2437T>A		.	.	.	.	.	.	.	.	.	.	T	21.1	4.098709	0.76870	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	D;D;D	0.88046	-2.33;-2.33;-2.33	5.62	4.46	0.54185	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.164585	0.53938	D	0.000046	D	0.88749	0.6521	M	0.69463	2.115	0.54753	D	0.999987	D;D	0.69078	0.997;0.996	P;P	0.61658	0.875;0.892	D	0.89784	0.3963	10	0.87932	D	0	.	12.6575	0.56795	0.0:0.0:0.1382:0.8618	.	712;813	Q59H18;Q59H18-1	TNI3K_HUMAN;.	I	813;813;712	ENSP00000450895:F813I;ENSP00000359928:F813I;ENSP00000322251:F712I	ENSP00000322251:F712I	F	+	1	0	RP11-653A5.2;AC093158.1	74727473	1.000000	0.71417	0.868000	0.34077	0.986000	0.74619	5.482000	0.66833	0.921000	0.36994	0.528000	0.53228	TTT		0.348	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			10	70	0	0	0	1	0	10	70					A	74954885	T	A	74954885	1	1	431	0	1	0	0	0	0	0	0	0	16326	1493	52	5		5	TNNI3K	1	74954885	Intron	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	32074270	74954885	174295736	7	36681											
CDC7	8317	broad.mit.edu	37	chr1	91989862	91989862	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagtataataccaattTagaaggctggaatgaggtac	11	4	0	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:91989862T>G	ENST00000428239.1	+	12	1854	c.1595T>G	c.(1594-1596)tTa>tGa	p.L532*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	532	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)		aATACCAATTTAGAAGGCTGG	0.388																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(1594-1596)tTa>tGa		cell division cycle 7							144	149	148					1																	91989862		2203	4300	6503	SO:0001587	stop_gained	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91989862T>G	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.1595T>G	1.37:g.91989862T>G	ENSP00000393139:p.Leu532*					CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504*	p.L532*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	12	1854	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	532			Protein kinase.		D3DT31|O00558|Q5T5U5	Nonsense_Mutation	SNP	ENST00000428239.1	37	c.1595T>G	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	33	5.227528	0.95173	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	.	.	.	5.94	1.91	0.25777	.	0.753335	0.12755	N	0.441873	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.7186	9.2416	0.37500	0.0:0.3264:0.0:0.6736	.	.	.	.	X	504;532;532	.	ENSP00000234626:L532X	L	+	2	0	CDC7	91762450	0.043000	0.20138	0.115000	0.21578	0.889000	0.51656	0.538000	0.23160	0.066000	0.16515	0.528000	0.53228	TTA		0.388	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		15	212	0	0	0	1	0	15	212					G	91989862	T	G	91989862	4	3	431	1	0	0	0	0	0	1	0	0	3084	1764	61	5	1637	5	CDC7	1	91989862	Nonsense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	17034977	91989862	157260759	8	36682											
RPL5	6125	broad.mit.edu	37	chr1	93301832	93301832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtggaaagcattgatgGtcagccaggtgccttcacct	11	10	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:93301832G>A	ENST00000370321.3	+	5	500	c.410G>A	c.(409-411)gGt>gAt	p.G137D	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	137					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGCATTGATGGTCAGCCAGGT	0.483																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(409-411)gGt>gAt		ribosomal protein L5							113	114	114					1																	93301832		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301832G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"L ribosomal proteins"	10360	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 135"	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.410G>A	1.37:g.93301832G>A	ENSP00000359345:p.Gly137Asp						p.G137D	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	500	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	137					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.410G>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	6.337	0.430294	0.12045	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	D	0.82526	-1.62	4.63	3.72	0.42706	.	0.050954	0.85682	D	0.000000	T	0.54481	0.1861	N	0.16743	0.435	0.80722	D	1	B	0.22346	0.068	B	0.24848	0.056	T	0.50224	-0.8853	10	0.18276	T	0.48	.	12.9191	0.58222	0.0797:0.0:0.9203:0.0	.	137	P46777	RL5_HUMAN	D	87;137;87	ENSP00000359345:G137D	ENSP00000359338:G87D	G	+	2	0	RPL5	93074420	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	6.617000	0.74210	0.933000	0.37291	-0.460000	0.05396	GGT		0.483	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	139	0	0	0	1	0	5	139					A	93301832	G	A	93301832	3	1	431	1	0	0	0	0	1	0	0	0	13597	1261	44	2	428	2	RPL5	1	93301832	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1311970	93301832	155948789	9	36683											
SETDB1	9869	broad.mit.edu	37	chr1	150922948	150922950	+	In_Frame_Del	DEL	CCA	CCA	-													ttgcagatcacctttaggctCcacagcctctgccccagcac					rs376221752		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:150922948_150922950delCCA	ENST00000271640.5	+	13	1785_1787	c.1595_1597delCCA	c.(1594-1599)tccaca>tca	p.T533del	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_In_Frame_Del_p.T533del	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	533					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)			CCTTTAGGCTCCACAGCCTCTGC	0.576																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1594-1599)tca>t		SET domain, bifurcated 1																																				SO:0001651	inframe_deletion	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150922948_150922950delCCA	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.1595_1597delCCA	1.37:g.150922948_150922950delCCA	ENSP00000271640:p.Thr533del					SETDB1_ENST00000368969.4_In_Frame_Del_p.ST532del|SETDB1_ENST00000459773.1_Intron	p.ST532del	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1785_1787	+	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)		532					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	In_Frame_Del	DEL	ENST00000271640.5	37	c.1595_1597delCCA	CCDS44217.1																																																																																				0.576	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			10	265						10	265	---	---	---	---	-	150922950	CCA	-	150922948	7	5	431	1	0	1	0	1	0	0	0	0	14138	855	30	0	1641	0	SETDB1	1	150922948	In_Frame_Del	DEL	CCA	TCGA-S9-A6WH-01A-12D-A33T-08	57621116	150922948	98327673	10	36684											
SLAMF1	6504	broad.mit.edu	37	chr1	160604539	160604539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaggtgggagctgttGgctgggttcagtgggtgggt	22	4	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:160604539G>T	ENST00000302035.6	-	3	913	c.564C>A	c.(562-564)gcC>gcA	p.A188A	SLAMF1_ENST00000355199.3_Silent_p.A188A|SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	188	Ig-like C2-type.				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)			GGGAGCTGTTGGCTGGGTTCA	0.587																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(562-564)gcC>gcA		signaling lymphocytic activation molecule family member 1							133	124	127					1																	160604539		2203	4300	6503	SO:0001819	synonymous_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604539G>T	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.564C>A	1.37:g.160604539G>T						SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A|SLAMF1_ENST00000355199.3_Silent_p.A188A	p.A188A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	913	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		188			Ig-like C2-type.		Q5W172|Q9HBE8	Silent	SNP	ENST00000302035.6	37	c.564C>A	CCDS1207.1																																																																																				0.587	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			11	196	1	0	3.86212e-05	1	3.91729e-05	11	196					T	160604539	G	T	160604539	2	4	431	1	0	0	0	0	0	0	0	1	14367	1335	47	4		4	SLAMF1	1	160604539	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	9681591	160604539	88646082	11	36685											
NOS1AP	9722	broad.mit.edu	37	chr1	162313631	162313631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctccttcccagagccaaGctatgagaatcgttcggacg	9	12	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:162313631G>A	ENST00000361897.5	+	6	862	c.460G>A	c.(460-462)Gct>Act	p.A154T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	154	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAGAGCCAAGCTATGAGAAT	0.537																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(460-462)Gct>Act		nitric oxide synthase 1 (neuronal) adaptor protein							91	89	90					1																	162313631		2203	4300	6503	SO:0001583	missense	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313631G>A	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.460G>A	1.37:g.162313631G>A	ENSP00000355133:p.Ala154Thr					NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T	p.A154T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	862	+	all_hematologic(112;0.203)		154			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.460G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414267	0.96092	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.35048	1.33;1.33	5.79	5.79	0.91817	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.69823	2.125	.	.	.	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.91635	0.999;0.967;0.999	T	0.54483	-0.8287	9	0.56958	D	0.05	.	18.6038	0.91259	0.0:0.0:1.0:0.0	.	149;149;154	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	149;154	ENSP00000431586:A149T;ENSP00000355133:A154T	ENSP00000355133:A154T	A	+	1	0	NOS1AP	160580255	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.337000	0.96545	2.733000	0.93635	0.655000	0.94253	GCT		0.537	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		9	197	0	0	0	1	0	9	197					A	162313631	G	A	162313631	3	1	431	1	0	0	0	0	1	0	0	0	10542	971	34	2	482	2	NOS1AP	1	162313631	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1709092	162313631	86936990	12	36686											
LGTN	1939	broad.mit.edu	37	chr1	206772892	206772892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttatatctggagggtgaTagggctgttccctgctaccc	12	9	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:206772892T>C	ENST00000271764.2	-	10	1335	c.1127A>G	c.(1126-1128)tAt>tGt	p.Y376C	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.Y252C	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	376					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGAGGGTGATAGGGCTGTTC	0.532																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1126-1128)tAt>tGt		eukaryotic translation initiation factor 2D							76	86	83					1																	206772892		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206772892T>C	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1127A>G	1.37:g.206772892T>C	ENSP00000271764:p.Tyr376Cys					EIF2D_ENST00000367114.3_Missense_Mutation_p.Y252C	p.Y376C	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN			10	1335	-			376					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.1127A>G	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.251124	0.80135	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.45276	0.9;1.45	5.77	5.77	0.91146	SWIB/MDM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.94	T	0.59139	-0.7510	10	0.51188	T	0.08	-24.0196	14.9208	0.70835	0.0:0.0:0.0:1.0	.	252;376	P41214-2;P41214	.;EIF2D_HUMAN	C	252;376	ENSP00000356081:Y252C;ENSP00000271764:Y376C	ENSP00000271764:Y376C	Y	-	2	0	EIF2D	204839515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.198000	0.70561	0.533000	0.62120	TAT		0.532	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		6	159	0	0	0	1	0	6	159					C	206772892	T	C	206772892	3	2	431	1	0	0	0	0	1	0	0	0	8760	1406	49	3	651	3	LGTN	1	206772892	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	44459261	206772892	42477729	13	36687											
C1orf115	79762	broad.mit.edu	37	chr1	220870064	220870064	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccagcgtggtatccttCgtgcgctaatgggagctgct	13	12	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:220870064C>T	ENST00000294889.5	+	2	978	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	140						integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGGTATCCTTCGTGCGCTAAT	0.592																																						ENST00000294889.5																			0				large_intestine(1)|lung(1)	2						c.(418-420)ttC>ttT		chromosome 1 open reading frame 115							68	68	68					1																	220870064		2203	4300	6503	SO:0001819	synonymous_variant	79762					integral to membrane		g.chr1:220870064C>T	AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.420C>T	1.37:g.220870064C>T							p.F140F	NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN		GBM - Glioblastoma multiforme(131;0.0273)	2	978	+			140					B3KRN3|D3DTB2	Silent	SNP	ENST00000294889.5	37	c.420C>T	CCDS1524.1																																																																																				0.592	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090922.3	NM_024709		16	156	0	0	0	1	0	16	156					T	220870064	C	T	220870064	2	4	431	1	0	0	0	0	0	0	0	1	1988	883	31	1		1	C1orf115	1	220870064	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	14097172	220870064	28380557	14	36688											
LYST	1130	broad.mit.edu	37	chr1	235950608	235950608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgcttgggaggaaaataTtctcctgtgattcaacctgt	9	7	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:235950608T>C	ENST00000389794.3	-	14	4928	c.4754A>G	c.(4753-4755)aAt>aGt	p.N1585S	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N1585S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					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)			GAGGAAAATATTCTCCTGTGA	0.413																																						ENST00000389794.3																			0				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						c.(4753-4755)aAt>aGt		lysosomal trafficking regulator							203	199	201					1																	235950608		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235950608T>C	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.4754A>G	1.37:g.235950608T>C	ENSP00000374444:p.Asn1585Ser					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.N1585S	p.N1585S			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		14	4928	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1585					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4754A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456474	0.63401	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62232	0.04;0.04	5.86	4.74	0.60224	.	0.402292	0.32473	N	0.006045	T	0.60983	0.2311	M	0.65975	2.015	0.80722	D	1	D	0.54964	0.969	B	0.42995	0.404	T	0.64884	-0.6302	10	0.62326	D	0.03	.	11.6999	0.51564	0.0:0.0689:0.0:0.9311	.	1585	Q99698	LYST_HUMAN	S	1585	ENSP00000374444:N1585S;ENSP00000374443:N1585S	ENSP00000374443:N1585S	N	-	2	0	LYST	234017231	0.997000	0.39634	0.969000	0.41365	0.993000	0.82548	2.933000	0.48948	1.055000	0.40461	0.477000	0.44152	AAT		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			17	343	0	0	0	1	0	17	343					C	235950608	T	C	235950608	3	2	431	1	0	0	0	0	1	0	0	0	9128	1493	52	3	6811	3	LYST	1	235950608	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	15080544	235950608	13300013	15	36689											
OR2T3	343173	broad.mit.edu	37	chr1	248637146	248637146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgatggtttgttgctcacCcccattaccatgagcttccc	8	13	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:248637146C>T	ENST00000359594.2	+	1	520	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	165						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(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TGTTGCTCACCCCCATTACCA	0.537																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(493-495)acC>acT		olfactory receptor, family 2, subfamily T, member 3							32	31	31					1																	248637146		2170	4256	6426	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637146C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.495C>T	1.37:g.248637146C>T							p.T165T	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	520	+	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)		165					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.495C>T	CCDS31117.1																																																																																				0.537	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		21	114	0	0	0	1	0	21	114					T	248637146	C	T	248637146	2	4	431	1	0	0	0	0	0	0	0	1	11023	610	22	2		2	OR2T3	1	248637146	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	12686538	248637146	613475	16	36690											
ACTR2	10097	broad.mit.edu	37	chr2	65467018	65467018	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatatgcaggctctaacttTccagaacacatcttcccagc	7	13	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:65467018T>C	ENST00000260641.5	+	2	238	c.81T>C	c.(79-81)ttT>ttC	p.F27F	ACTR2_ENST00000377982.4_Silent_p.F27F|ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	27					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GCTCTAACTTTCCAGAACACA	0.343																																						ENST00000260641.5																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						c.(79-81)ttT>ttC		ARP2 actin-related protein 2 homolog (yeast)							103	100	101					2																	65467018		2203	4300	6503	SO:0001819	synonymous_variant	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65467018T>C	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.81T>C	2.37:g.65467018T>C						ACTR2_ENST00000377982.4_Silent_p.F27F|ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR	p.F27F	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN			2	238	+			27					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	ENST00000260641.5	37	c.81T>C	CCDS1881.1																																																																																				0.343	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		23	208	0	0	0	1	0	23	208					C	65467018	T	C	65467018	2	2	431	1	0	0	0	0	0	0	0	1	211	1780	62	3		3	ACTR2	2	65467018	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08		65467018	177732355	17	36691											
CCDC142	84865	broad.mit.edu	37	chr2	74709771	74709771	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcagcctcgtagtccTcgctcacatccgccggcgtc	9	18	2	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:74709771T>G	ENST00000393965.3	-	1	590	c.194A>C	c.(193-195)gAg>gCg	p.E65A	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	65										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTCGTAGTCCTCGCTCACATC	0.716																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(193-195)gAg>gCg		coiled-coil domain containing 142							27	28	28					2																	74709771		2155	4223	6378	SO:0001583	missense	84865							g.chr2:74709771T>G	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.194A>C	2.37:g.74709771T>G	ENSP00000377537:p.Glu65Ala					CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A|CCDC142_ENST00000471713.1_Intron	p.E65A	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	590	-			65					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.194A>C		.	.	.	.	.	.	.	.	.	.	T	14.63	2.591481	0.46214	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.09255	3.0;3.0	4.44	0.524	0.17066	.	0.855318	0.09958	N	0.733759	T	0.09113	0.0225	L	0.47716	1.5	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.06405	0.002;0.002;0.002	T	0.38628	-0.9652	9	.	.	.	-1.4387	5.3472	0.16016	0.0:0.1055:0.4033:0.4912	.	65;65;65	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	A	65	ENSP00000377537:E65A;ENSP00000290418:E65A	.	E	-	2	0	CCDC142	74563279	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.223000	0.17719	0.267000	0.21916	0.459000	0.35465	GAG		0.716	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		12	45	0	0	0	1	0	12	45					G	74709771	T	G	74709771	3	3	431	1	0	0	0	0	1	0	0	0	2776	1551	54	5	2073	5	CCDC142	2	74709771	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	9242753	74709771	168489602	18	36692											
GGCX	2677	broad.mit.edu	37	chr2	85777115	85777115	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggattagaatgtgaagaaTccgtgtttgagggattcagt	14	3	1	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:85777115T>G	ENST00000233838.4	-	15	2299	c.2219A>C	c.(2218-2220)gAt>gCt	p.D740A	GGCX_ENST00000473665.1_5'Flank|GGCX_ENST00000430215.3_Missense_Mutation_p.D683A	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	740					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	ATGTGAAGAATCCGTGTTTGA	0.507																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(2218-2220)gAt>gCt		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						79	75	76					2																	85777115		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85777115T>G		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.2219A>C	2.37:g.85777115T>G	ENSP00000233838:p.Asp740Ala					GGCX_ENST00000430215.3_Missense_Mutation_p.D683A	p.D740A	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			15	2299	-			740					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.2219A>C	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.220633	0.39201	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.29397	1.57;1.57	6.07	4.85	0.62838	.	0.532223	0.19895	N	0.103642	T	0.27419	0.0673	L	0.47716	1.5	0.09310	N	1	B;B;B	0.20368	0.009;0.044;0.02	B;B;B	0.19148	0.01;0.024;0.016	T	0.18209	-1.0344	10	0.72032	D	0.01	-3.8326	9.7169	0.40281	0.0:0.0:0.1741:0.8259	.	683;556;740	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	A	740;683	ENSP00000233838:D740A;ENSP00000408045:D683A	ENSP00000233838:D740A	D	-	2	0	GGCX	85630626	0.029000	0.19370	0.172000	0.22920	0.012000	0.07955	1.409000	0.34680	2.326000	0.78906	0.533000	0.62120	GAT		0.507	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		41	65	0	0	0	1	0	41	65					G	85777115	T	G	85777115	3	3	431	1	0	0	0	0	1	0	0	0	6356	1435	50	5	61	5	GGCX	2	85777115	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	11067344	85777115	157422258	19	36693											
GCC2	9648	broad.mit.edu	37	chr2	109109230	109109230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttccagcttaagaaTgaaccgaccacaagaagtat	7	11	1	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:109109230T>A	ENST00000309863.6	+	19	5145	c.4431T>A	c.(4429-4431)aaT>aaA	p.N1477K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1477					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						AGCTTAAGAATGAACCGACCA	0.388																																						ENST00000309863.6																			0				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						c.(4429-4431)aaT>aaA		GRIP and coiled-coil domain containing 2							92	90	91					2																	109109230		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109109230T>A	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.4431T>A	2.37:g.109109230T>A	ENSP00000307939:p.Asn1477Lys						p.N1477K	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			19	5145	+			1477					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4431T>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411847	0.42817	.	.	ENSG00000135968	ENST00000309863	T	0.28895	1.59	5.42	-2.34	0.06704	.	0.126201	0.64402	D	0.000001	T	0.11367	0.0277	N	0.08118	0	0.25390	N	0.988538	B	0.17465	0.022	B	0.11329	0.006	T	0.35822	-0.9773	10	0.07482	T	0.82	.	10.9523	0.47336	0.0:0.4348:0.0:0.5652	.	1477	Q8IWJ2	GCC2_HUMAN	K	1477	ENSP00000307939:N1477K	ENSP00000307939:N1477K	N	+	3	2	GCC2	108475662	0.992000	0.36948	0.982000	0.44146	0.789000	0.44602	0.034000	0.13776	-0.335000	0.08451	-0.250000	0.11733	AAT		0.388	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		5	80	0	0	0	1	0	5	80					A	109109230	T	A	109109230	3	1	431	1	0	0	0	0	1	0	0	0	6286	1461	51	5	4505	5	GCC2	2	109109230	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	23332115	109109230	134090143	20	36694											
CDCA7	83879	broad.mit.edu	37	chr2	174231959	174231959	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacggtgtgcgactggggtcCttgtgtatttagccaaatat	13	7	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:174231959C>G	ENST00000347703.3	+	8	1174	c.1030C>G	c.(1030-1032)Ctt>Gtt	p.L344V	CDCA7_ENST00000410101.3_Missense_Mutation_p.L379V|CDCA7_ENST00000410019.3_Missense_Mutation_p.L302V|CDCA7_ENST00000306721.3_Missense_Mutation_p.L423V|CDCA7_ENST00000392567.2_Missense_Mutation_p.L294V	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	344	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GACTGGGGTCCTTGTGTATTT	0.468																																						ENST00000306721.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18						c.(1267-1269)Ctt>Gtt		cell division cycle associated 7							162	148	152					2																	174231959		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231959C>G	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.1030C>G	2.37:g.174231959C>G	ENSP00000272789:p.Leu344Val					CDCA7_ENST00000347703.3_Missense_Mutation_p.L344V|CDCA7_ENST00000410101.3_Missense_Mutation_p.L379V|CDCA7_ENST00000392567.2_Missense_Mutation_p.L294V|CDCA7_ENST00000410019.3_Missense_Mutation_p.L302V	p.L423V	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		9	1370	+			344					B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.1267C>G	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989019	0.74589	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.59906	0.45;0.23;0.38;0.44;0.46	5.7	4.64	0.57946	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.66939	2.045	0.50632	D	0.999887	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.991;0.999;0.993;0.999	T	0.73122	-0.4082	10	0.52906	T	0.07	-14.7516	13.3126	0.60388	0.0:0.8705:0.0:0.1295	.	302;379;344;423	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	V	344;294;423;379;302	ENSP00000272789:L344V;ENSP00000376348:L294V;ENSP00000306968:L423V;ENSP00000386656:L379V;ENSP00000386833:L302V	ENSP00000306968:L423V	L	+	1	0	CDCA7	173940205	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.668000	0.46816	2.683000	0.91414	0.655000	0.94253	CTT		0.468	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		5	231	0	0	0	1	0	5	231					G	174231959	C	G	174231959	3	3	431	1	0	0	0	0	1	0	0	0	3090	681	24	4	1301	4	CDCA7	2	174231959	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	65122729	174231959	68967414	21	36695											
TTN	7273	broad.mit.edu	37	chr2	179615659	179615659	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactagaatttcaccatatAaatggtcttttggtagactt	6	6	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:179615659A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L3823S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_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)			TTCACCATATAAATGGTCTTT	0.363																																						ENST00000360870.5																			0				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						c.(11467-11469)tTa>tCa		titin							102	111	108					2																	179615659		2201	4296	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615659A>G	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+2191T>C	2.37:g.179615659A>G						TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron	p.L3823S	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11690	-			9657					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	ENST00000591111.1	37	c.11468T>C		.	.	.	.	.	.	.	.	.	.	A	16.72	3.200823	0.58234	.	.	ENSG00000155657	ENST00000360870	T	0.59364	0.27	5.25	1.52	0.23074	.	.	.	.	.	T	0.28632	0.0709	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20107	-1.0285	9	0.06891	T	0.86	.	0.7856	0.01048	0.4434:0.1609:0.2409:0.1548	.	3823	Q8WZ42-6	.	S	3823	ENSP00000354117:L3823S	ENSP00000354117:L3823S	L	-	2	0	TTN	179323904	0.000000	0.05858	0.000000	0.03702	0.882000	0.50991	0.840000	0.27600	0.379000	0.24794	0.533000	0.62120	TTA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	212	0	0	0	1	0	47	212					G	179615659	A	G	179615659	1	3	431	0	1	0	0	0	0	0	0	0	16732	372	13	3		3	TTN	2	179615659	Intron	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	5383700	179615659	63583714	22	36696											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			73	110	0	0	0	1	0	73	110					T	209113112	C	T	209113112	3	4	431	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	29497453	209113112	34086261	23	36697											
IHH	3549	broad.mit.edu	37	chr2	219920186	219920186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagcggggcgtaggcccCgagggccacgtgtgtagaga	19	9	0	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:219920186C>T	ENST00000295731.6	-	3	978	c.979G>A	c.(979-981)Ggg>Agg	p.G327R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	327					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGGCCCCGAGGGCCACG	0.672																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(979-981)Ggg>Agg		indian hedgehog							28	29	29					2																	219920186		2202	4300	6502	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920186C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.979G>A	2.37:g.219920186C>T	ENSP00000295731:p.Gly327Arg						p.G327R	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	978	-		Renal(207;0.0915)	327					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.979G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406525	0.62399	.	.	ENSG00000163501	ENST00000295731	D	0.99848	-7.14	5.16	5.16	0.70880	Hedgehog/intein hint domain, C-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96499	0.9370	10	0.87932	D	0	.	18.2593	0.90030	0.0:1.0:0.0:0.0	.	327	Q14623	IHH_HUMAN	R	327	ENSP00000295731:G327R	ENSP00000295731:G327R	G	-	1	0	IHH	219628430	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.750000	0.85110	2.381000	0.81170	0.561000	0.74099	GGG		0.672	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		4	42	0	0	0	1	0	4	42					T	219920186	C	T	219920186	3	4	431	1	0	0	0	0	1	0	0	0	7607	652	23	1	260	1	IHH	2	219920186	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	10807074	219920186	23279187	24	36698											
HRH1	3269	broad.mit.edu	37	chr3	11301252	11301252	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagacctcggtgcgccgaGaggacaagtgtgagacagac	15	10	0	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:11301252G>A	ENST00000397056.1	+	3	720	c.529G>A	c.(529-531)Gag>Aag	p.E177K	HRH1_ENST00000438284.2_Missense_Mutation_p.E177K|HRH1_ENST00000431010.2_Missense_Mutation_p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	177					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)	GGTGCGCCGAGAGGACAAGTG	0.522																																						ENST00000397056.1																			0				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						c.(529-531)Gag>Aag		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						174	147	156					3																	11301252		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301252G>A		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.529G>A	3.37:g.11301252G>A	ENSP00000380247:p.Glu177Lys					HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K	p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN			3	720	+			177					A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.529G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991579	0.18966	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.37235	1.21;1.21;1.21	5.98	-1.23	0.09465	GPCR, rhodopsin-like superfamily (1);	0.466272	0.24467	N	0.038270	T	0.26557	0.0649	L	0.56199	1.76	0.09310	N	0.999991	B	0.15719	0.014	B	0.23419	0.046	T	0.27905	-1.0060	10	0.19147	T	0.46	-3.7866	6.296	0.21087	0.299:0.2096:0.4914:0.0	.	177	P35367	HRH1_HUMAN	K	177	ENSP00000406705:E177K;ENSP00000397028:E177K;ENSP00000380247:E177K	ENSP00000380247:E177K	E	+	1	0	HRH1	11276252	0.028000	0.19301	0.000000	0.03702	0.414000	0.31173	1.371000	0.34250	-0.584000	0.05913	-0.176000	0.13171	GAG		0.522	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			10	240	0	0	0	1	0	10	240					A	11301252	G	A	11301252	3	1	431	1	0	0	0	0	1	0	0	0	7355	943	33	2	531	2	HRH1	3	11301252	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		11301252	186721178	25	36699											
SATB1	6304	broad.mit.edu	37	chr3	18428052	18428052	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtttaccagcaaagactGggatgcagtcttggggtcct	13	8	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:18428052G>A	ENST00000338745.6	-	8	2992	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	420					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						AGCAAAGACTGGGATGCAGTC	0.502																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1258-1260)Cag>Tag		SATB homeobox 1							115	115	115					3																	18428052		2203	4300	6503	SO:0001587	stop_gained	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18428052G>A		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.1258C>T	3.37:g.18428052G>A	ENSP00000341024:p.Gln420*					SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420*	p.Q420*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			8	2992	-			420					B3KXF1|C9JTR6|Q59EQ0	Nonsense_Mutation	SNP	ENST00000338745.6	37	c.1258C>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	40	8.359717	0.98777	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-22.0275	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	420	.	ENSP00000341024:Q420X	Q	-	1	0	SATB1	18403056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.878000	0.98634	0.650000	0.86243	CAG		0.502	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		7	184	0	0	0	1	0	7	184					A	18428052	G	A	18428052	4	1	431	1	0	0	0	0	0	1	0	0	13853	1357	47	2	1049	2	SATB1	3	18428052	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	7126800	18428052	179594378	26	36700											
QARS	5859	broad.mit.edu	37	chr3	49139864	49139866	+	In_Frame_Del	DEL	CTC	CTC	-													atccctaccttgaacttcttCtccagatcagcctccaactt							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49139864_49139866delCTC	ENST00000306125.6	-	6	893_895	c.556_558delGAG	c.(556-558)gagdel	p.E186del	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_In_Frame_Del_p.E175del|QARS_ENST00000420147.2_In_Frame_Del_p.E204del			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	186					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)	TGAACTTCTTCTCCAGATCAGCC	0.576																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(556-558)del		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)																																			SO:0001651	inframe_deletion	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49139864_49139866delCTC	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.556_558delGAG	3.37:g.49139864_49139866delCTC	ENSP00000307567:p.Glu186del					QARS_ENST00000420147.2_In_Frame_Del_p.E204del|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_In_Frame_Del_p.E175del	p.E186del			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	893_895	-			186					B4DWJ2	In_Frame_Del	DEL	ENST00000306125.6	37	c.556_558delGAG	CCDS2788.1																																																																																				0.576	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		9	159						9	159	---	---	---	---	-	49139866	CTC	-	49139864	7	5	431	1	0	1	0	1	0	0	0	0	12871	912	32	0	1845	0	QARS	3	49139864	In_Frame_Del	DEL	CTC	TCGA-S9-A6WH-01A-12D-A33T-08	30711812	49139864	148882566	27	36701											
USP4	7375	broad.mit.edu	37	chr3	49365164	49365166	+	In_Frame_Del	DEL	TAG	TAG	-													tctacacagccgtaccagttTagtagtttattccacgcctc					rs143074429	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49365164_49365166delTAG	ENST00000265560.4	-	3	359_361	c.313_315delCTA	c.(313-315)ctadel	p.L105del	USP4_ENST00000351842.4_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	105	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				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)			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)		CGTACCAGTTTAGTAGTTTATTC	0.443																																						ENST00000351842.4																			0				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						c.(313-315)del		ubiquitin specific peptidase 4 (proto-oncogene)																																				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49365164_49365166delTAG	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.313_315delCTA	3.37:g.49365167_49365169delTAG	ENSP00000265560:p.Leu105del					USP4_ENST00000265560.4_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del	p.L105del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		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)	3	321_323	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	105			DUSP.		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.313_315delCTA	CCDS2793.1																																																																																				0.443	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		17	181						17	181	---	---	---	---	-	49365166	TAG	-	49365164	7	5	431	1	0	1	0	1	0	0	0	0	17068	1741	61	0	2656	0	USP4	3	49365164	In_Frame_Del	DEL	TAG	TCGA-S9-A6WH-01A-12D-A33T-08	225300	49365164	148657266	28	36702											
RYBP	23429	broad.mit.edu	37	chr3	72427764	72427764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccaactgctgtgcagtgctCctgtccacgtttttcagccg	10	14	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:72427764C>G	ENST00000477973.2	-	4	723	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGCAGTGCTCCTGTCCACGT	0.483																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(724-726)Gag>Cag		RING1 and YY1 binding protein							113	108	110					3																	72427764		2058	4187	6245	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427764C>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.724G>C	3.37:g.72427764C>G	ENSP00000419494:p.Glu242Gln						p.E242Q	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	723	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.724G>C		.	.	.	.	.	.	.	.	.	.	C	18.42	3.619364	0.66787	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	3.4	0.38934	.	.	.	.	.	T	0.58538	0.2129	M	0.77486	2.375	.	.	.	.	.	.	.	.	.	T	0.66578	-0.5888	4	.	.	.	-9.0662	4.6702	0.12685	0.0:0.496:0.0:0.504	.	.	.	.	Q	242	.	.	E	-	1	0	RYBP	72510454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.153000	0.42282	1.364000	0.46038	0.650000	0.86243	GAG		0.483	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		6	147	0	0	0	1	0	6	147					G	72427764	C	G	72427764	3	3	431	1	0	0	0	0	1	0	0	0	13766	854	30	4	231	4	RYBP	3	72427764	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23062600	72427764	125594666	29	36703											
PCCB	5096	broad.mit.edu	37	chr3	136046565	136046565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcagagattgcagtcatGggagcaaaggtgagggcctc	15	9	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:136046565G>A	ENST00000251654.4	+	13	1459	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	PCCB_ENST00000483687.1_Missense_Mutation_p.M444I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000471595.1_Missense_Mutation_p.M463I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	463	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTGCAGTCATGGGAGCAAAGG	0.522																																						ENST00000471595.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(1387-1389)atG>atA		propionyl CoA carboxylase, beta polypeptide	Biotin(DB00121)|L-Valine(DB00161)						107	94	98					3																	136046565		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136046565G>A		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"propionyl Coenzyme A carboxylase, beta polypeptide"			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1389G>A	3.37:g.136046565G>A	ENSP00000251654:p.Met463Ile					PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000251654.4_Missense_Mutation_p.M463I|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I|PCCB_ENST00000483687.1_Missense_Mutation_p.M444I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I	p.M463I			P05166	PCCB_HUMAN			13	1407	+			463			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.1389G>A	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971092	0.92919	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.79	4.79	0.61399	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.95745	3.715	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.91635	0.999;0.995;0.995	D	0.98786	1.0734	10	0.87932	D	0	.	18.0223	0.89258	0.0:0.0:1.0:0.0	.	483;463;463	B7Z2Z4;E9PDR0;P05166	.;.;PCCB_HUMAN	I	463;406;444;494;440;483;347;463;483	ENSP00000251654:M463I;ENSP00000418307:M406I;ENSP00000420639:M444I;ENSP00000419129:M494I;ENSP00000420391:M440I;ENSP00000420158:M483I;ENSP00000417253:M347I;ENSP00000417549:M463I;ENSP00000419027:M483I	ENSP00000251654:M463I	M	+	3	0	PCCB	137529255	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.165000	0.94761	2.492000	0.84095	0.491000	0.48974	ATG		0.522	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			29	43	0	0	0	1	0	29	43					A	136046565	G	A	136046565	3	1	431	1	0	0	0	0	1	0	0	0	11505	1348	47	2	1503	2	PCCB	3	136046565	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	63618801	136046565	61975865	30	36704											
MLF1	4291	broad.mit.edu	37	chr3	158314692	158314692	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagacaatggaccaaatggtGtcaaatatgagaaactatat	8	6	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:158314692G>C	ENST00000355893.5	+	3	375	c.237G>C	c.(235-237)gtG>gtC	p.V79V	MLF1_ENST00000471745.1_Silent_p.V69V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000359117.5_Silent_p.V54V|MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000392822.3_Silent_p.V110V	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	79	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			ACCAAATGGTGTCAAATATGA	0.313			T	NPM1	AML																																	ENST00000359117.5				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		0				large_intestine(3)	3						c.(160-162)gtG>gtC		myeloid leukemia factor 1							66	64	65					3																	158314692		2202	4299	6501	SO:0001819	synonymous_variant	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158314692G>C	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.237G>C	3.37:g.158314692G>C						MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Silent_p.V69V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000392822.3_Silent_p.V110V|MLF1_ENST00000355893.5_Silent_p.V79V	p.V54V	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		3	398	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	79			Interaction with COPS3.		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Silent	SNP	ENST00000355893.5	37	c.162G>C	CCDS3182.1																																																																																				0.313	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		3	72	0	0	0	1	0	3	72					C	158314692	G	C	158314692	2	2	431	1	0	0	0	0	0	0	0	1	9614	1364	48	4		4	MLF1	3	158314692	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	22268127	158314692	39707738	31	36705											
TNIK	23043	broad.mit.edu	37	chr3	170843805	170843805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggatctgagttctggcGtggcatctccacgcggtggg	18	9	3	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:170843805G>A	ENST00000436636.2	-	17	2253	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C|TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	637	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)	p.R637C(2)		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)			GAGTTCTGGCGTGGCATCTCC	0.572																																						ENST00000436636.2																			2	Substitution - Missense(2)	p.R637C(2)	large_intestine(2)	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						c.(1909-1911)Cgc>Tgc		TRAF2 and NCK interacting kinase							85	87	87					3																	170843805		1923	4135	6058	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170843805G>A	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.1909C>T	3.37:g.170843805G>A	ENSP00000399511:p.Arg637Cys					TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C	p.R637C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		17	2253	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		637			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1909C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504781	0.85176	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.74947	0.88;0.88;-0.85;-0.82;0.88;-0.86;0.88;-0.89;-0.84;0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	L	0.55481	1.735	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.79108	0.992;0.975;0.992;0.992;0.988;0.975;0.992;0.972	T	0.82575	-0.0389	10	0.52906	T	0.07	.	14.6057	0.68478	0.0:0.0:0.8199:0.1801	.	553;608;582;553;637;608;582;637	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	C	637;608;582;553;637;553;608;582;582;608	ENSP00000399511:R637C;ENSP00000358332:R608C;ENSP00000443278:R582C;ENSP00000345352:R553C;ENSP00000284483:R637C;ENSP00000418156:R553C;ENSP00000349880:R608C;ENSP00000418916:R582C;ENSP00000418378:R582C;ENSP00000419990:R608C	ENSP00000284483:R637C	R	-	1	0	TNIK	172326499	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	7.040000	0.76551	2.761000	0.94854	0.655000	0.94253	CGC		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		28	95	0	0	0	1	0	28	95					A	170843805	G	A	170843805	3	1	431	1	0	0	0	0	1	0	0	0	16310	1145	40	1	2241	1	TNIK	3	170843805	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	12529113	170843805	27178625	32	36706											
ATP13A5	344905	broad.mit.edu	37	chr3	193019013	193019013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatacccaatagagcagtAatgcactgataaactggatt	7	8	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:193019013A>G	ENST00000342358.4	-	24	2879	c.2762T>C	c.(2761-2763)tTa>tCa	p.L921S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	921						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)		ATAGAGCAGTAATGCACTGAT	0.348																																						ENST00000342358.4																			0				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						c.(2761-2763)tTa>tCa		ATPase type 13A5							122	129	126					3																	193019013		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193019013A>G	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.2762T>C	3.37:g.193019013A>G	ENSP00000341942:p.Leu921Ser					ATP13A5_ENST00000495496.1_5'UTR	p.L921S	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	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)	24	2879	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		921					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2762T>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	A	2.294	-0.361687	0.05103	.	.	ENSG00000187527	ENST00000342358	D	0.87887	-2.31	6.13	-0.902	0.10537	.	1.013840	0.07891	N	0.971227	T	0.71375	0.3332	N	0.04132	-0.27	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.54063	-0.8349	10	0.22109	T	0.4	-0.0923	11.0209	0.47718	0.515:0.0:0.485:0.0	.	921	Q4VNC0	AT135_HUMAN	S	921	ENSP00000341942:L921S	ENSP00000341942:L921S	L	-	2	0	ATP13A5	194501707	0.344000	0.24827	0.943000	0.38184	0.019000	0.09904	1.470000	0.35354	-0.151000	0.11176	-1.075000	0.02238	TTA		0.348	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		21	291	0	0	0	1	0	21	291					G	193019013	A	G	193019013	3	3	431	1	0	0	0	0	1	0	0	0	1127	372	13	3	920	3	ATP13A5	3	193019013	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	22175208	193019013	5003417	33	36707											
STBD1	100631383	broad.mit.edu	37	chr4	77228079	77228079	+	Missense_Mutation	SNP	C	C	T													gagctgcgattccgggaggcCatcagagtggcagcagcgga							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:77228079C>T	ENST00000237642.6	+	1	901	c.157C>T	c.(157-159)Cat>Tat	p.H53Y	FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		TCCGGGAGGCCATCAGAGTGG	0.667											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000237642.6																			0											c.(157-159)Cat>Tat									24	33	30					4																	77228079		2202	4299	6501	SO:0001583	missense	0							g.chr4:77228079C>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.157C>T	4.37:g.77228079C>T	ENSP00000237642:p.His53Tyr		OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1174	FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron	p.H53Y	NM_003943.4	NP_003934.1					1	901	+									Missense_Mutation	SNP	ENST00000237642.6	37	c.157C>T	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782560	0.16189	.	.	ENSG00000118804	ENST00000237642	T	0.21734	1.99	4.75	-0.398	0.12418	.	0.788733	0.10386	N	0.681006	T	0.10637	0.0260	N	0.08118	0	0.09310	N	0.999996	B	0.25272	0.122	B	0.22601	0.04	T	0.30679	-0.9970	10	0.48119	T	0.1	-2.5351	9.8625	0.41123	0.086:0.5329:0.381:0.0	.	53	O95210	STBD1_HUMAN	Y	53	ENSP00000237642:H53Y	ENSP00000237642:H53Y	H	+	1	0	STBD1	77447103	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.263000	0.18478	-0.053000	0.13289	-0.463000	0.05309	CAT		0.667	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			4	19	0	0	0	1	0	4	19					T	77228079	C	T	77228079	3	4	431	1	0	0	0	0	1	0	0	0	15273	594	21	2	159	2	STBD1	4	77228079	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		77228079	113926197	34	36708	156	2									
STBD1	100631383	broad.mit.edu	37	chr4	77228080	77228080	+	Missense_Mutation	SNP	A	A	C													agctgcgattccgggaggccAtcagagtggcagcagcggac							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:77228080A>C	ENST00000237642.6	+	1	902	c.158A>C	c.(157-159)cAt>cCt	p.H53P	FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		CCGGGAGGCCATCAGAGTGGC	0.667											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000237642.6																			0											c.(157-159)cAt>cCt									23	33	29					4																	77228080		2202	4299	6501	SO:0001583	missense	0							g.chr4:77228080A>C		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.158A>C	4.37:g.77228080A>C	ENSP00000237642:p.His53Pro		OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1174	FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron	p.H53P	NM_003943.4	NP_003934.1					1	902	+									Missense_Mutation	SNP	ENST00000237642.6	37	c.158A>C	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.750975	0.15778	.	.	ENSG00000118804	ENST00000237642	T	0.21543	2.0	4.75	-0.496	0.12027	.	0.788733	0.10386	N	0.681006	T	0.09158	0.0226	N	0.08118	0	0.09310	N	0.999996	B	0.16603	0.018	B	0.17433	0.018	T	0.31724	-0.9933	10	0.41790	T	0.15	-2.5351	4.1686	0.10318	0.4913:0.1812:0.3275:0.0	.	53	O95210	STBD1_HUMAN	P	53	ENSP00000237642:H53P	ENSP00000237642:H53P	H	+	2	0	STBD1	77447104	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.385000	0.20685	0.026000	0.15269	0.383000	0.25322	CAT		0.667	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			4	19	0	0	0	1	0	4	19					C	77228080	A	C	77228080	3	2	431	1	0	0	0	0	1	0	0	0	15273	217	8	5	160	5	STBD1	4	77228080	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	1	77228080	113926196	35	36709	156	2									
C4orf21	55345	broad.mit.edu	37	chr4	113539732	113539732	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agatcctagaattattactaGattcaatttggagatgtttc	7	5	1	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:113539732G>T	ENST00000505019.1	-	6	1591	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y|C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		489						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)		ATTATTACTAGATTCAATTTG	0.333																																						ENST00000505019.1																			0				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						c.(1465-1467)tCt>tAt		chromosome 4 open reading frame 21							84	90	88					4																	113539732		2202	4299	6501	SO:0001583	missense	55345							g.chr4:113539732G>T																												ENST00000505019.1:c.1466C>A	4.37:g.113539732G>T	ENSP00000424737:p.Ser489Tyr					C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y|C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y	p.S489Y	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1591	-		Ovarian(17;0.156)	489					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.1466C>A		.	.	.	.	.	.	.	.	.	.	G	9.967	1.224360	0.22457	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84730	-1.89;1.63;1.19	5.42	4.57	0.56435	.	0.785958	0.11407	N	0.567231	D	0.86752	0.6008	M	0.64997	1.995	0.09310	N	1	B;B	0.31054	0.306;0.215	B;B	0.40228	0.311;0.323	T	0.74685	-0.3582	10	0.29301	T	0.29	-6.1645	15.3876	0.74714	0.0763:0.0:0.9237:0.0	.	489;489	Q86YA3;G5EA02	CD021_HUMAN;.	Y	489;489;458	ENSP00000424737:S489Y;ENSP00000309095:S489Y;ENSP00000390505:S458Y	ENSP00000309095:S489Y	S	-	2	0	C4orf21	113759181	0.031000	0.19500	0.011000	0.14972	0.009000	0.06853	1.380000	0.34351	0.784000	0.33661	-1.151000	0.01829	TCT		0.333	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			44	183	1	0	5.78141e-17	1	6.03648e-17	44	183					T	113539732	G	T	113539732	3	4	431	1	0	0	0	0	1	0	0	0	2254	942	33	4	4940	4	C4orf21	4	113539732	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	36311652	113539732	77614544	36	36710											
ODZ3	55714	broad.mit.edu	37	chr4	183676100	183676100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctacatctttgacatcaAtggtactcaccaatatactg	4	11	4	1	rs202067365		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:183676100A>G	ENST00000511685.1	+	22	4703	c.4580A>G	c.(4579-4581)aAt>aGt	p.N1527S	TENM3_ENST00000406950.2_Missense_Mutation_p.N1527S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1527					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTGACATCAATGGTACTCAC	0.383																																						ENST00000511685.1																			0											c.(4579-4581)aAt>aGt		teneurin transmembrane protein 3		A	SER/ASN	3,3809		0,3,1903	75	75	75		4580	5.2	1	4		75	0,8262		0,0,4131	yes	missense	ODZ3	NM_001080477.1	46	0,3,6034	GG,GA,AA		0.0,0.0787,0.0248	benign	1527/2700	183676100	3,12071	1906	4131	6037	SO:0001583	missense	55714							g.chr4:183676100A>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4580A>G	4.37:g.183676100A>G	ENSP00000424226:p.Asn1527Ser					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N1527S	p.N1527S							22	4703	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4580A>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044359	0.36085	7.87E-4	0.0	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16196	2.36;2.36	5.25	5.25	0.73442	.	.	.	.	.	T	0.15522	0.0374	L	0.45422	1.42	0.58432	D	0.999999	P	0.42692	0.787	B	0.38056	0.264	T	0.06006	-1.0851	9	0.21014	T	0.42	.	15.3157	0.74074	1.0:0.0:0.0:0.0	.	1527	Q9P273	TEN3_HUMAN	S	1527	ENSP00000424226:N1527S;ENSP00000385276:N1527S	ENSP00000385276:N1527S	N	+	2	0	ODZ3	183913094	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.139000	0.94554	2.210000	0.71456	0.460000	0.39030	AAT		0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	113	0	0	0	1	0	6	113					G	183676100	A	G	183676100	3	3	431	1	0	0	0	0	1	0	0	0	10836	101	4	3	4662	3	ODZ3	4	183676100	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	70136368	183676100	7478176	37	36711											
LMBRD2	92255	broad.mit.edu	37	chr5	36124351	36124351	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattatacttgatgctttcaTtcactttacgaacctcctat	4	10	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:36124351T>A	ENST00000296603.4	-	7	1226	c.764A>T	c.(763-765)aAt>aTt	p.N255I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	255						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGCTTTCATTCACTTTACG	0.274																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(763-765)aAt>aTt		LMBR1 domain containing 2							54	52	53					5																	36124351		2193	4280	6473	SO:0001583	missense	92255					integral to membrane		g.chr5:36124351T>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.764A>T	5.37:g.36124351T>A	ENSP00000296603:p.Asn255Ile						p.N255I	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1226	-	all_lung(31;0.000146)		255					B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.764A>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084616	0.36758	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.31510	1.49	5.61	4.45	0.53987	LMBR1-like membrane protein (1);	0.142728	0.64402	D	0.000005	T	0.25791	0.0628	L	0.44542	1.39	0.47094	D	0.999318	B	0.06786	0.001	B	0.09377	0.004	T	0.04579	-1.0941	10	0.56958	D	0.05	-19.0217	9.2153	0.37344	0.0:0.1588:0.0:0.8412	.	255	Q68DH5	LMBD2_HUMAN	I	255;149	ENSP00000296603:N255I	ENSP00000296603:N255I	N	-	2	0	LMBRD2	36160108	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.843000	0.48238	0.960000	0.38005	0.477000	0.44152	AAT		0.274	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		36	56	0	0	0	1	0	36	56					A	36124351	T	A	36124351	3	1	431	1	0	0	0	0	1	0	0	0	8843	1493	52	5	1371	5	LMBRD2	5	36124351	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08		36124351	144790909	38	36712											
RHOBTB3	22836	broad.mit.edu	37	chr5	95088046	95088046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattagaccacctcaacttgAacaaccaggtgcatttctta	5	11	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:95088046A>C	ENST00000379982.3	+	5	1182	c.674A>C	c.(673-675)gAa>gCa	p.E225A	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	225					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-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;8.79e-16)		CCTCAACTTGAACAACCAGGT	0.348																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(673-675)gAa>gCa		Rho-related BTB domain containing 3							99	104	102					5																	95088046		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95088046A>C	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.674A>C	5.37:g.95088046A>C	ENSP00000369318:p.Glu225Ala					GLRX_ENST00000508780.1_Intron	p.E225A	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	5	1182	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	225					A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.674A>C	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744678	0.49151	.	.	ENSG00000164292	ENST00000379982	T	0.64618	-0.11	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.27053	0.805	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.50363	-0.8837	10	0.38643	T	0.18	-23.7603	15.3831	0.74676	1.0:0.0:0.0:0.0	.	225	O94955	RHBT3_HUMAN	A	225	ENSP00000369318:E225A	ENSP00000369318:E225A	E	+	2	0	RHOBTB3	95113802	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	4.895000	0.63214	2.168000	0.68352	0.477000	0.44152	GAA		0.348	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		6	206	0	0	0	1	0	6	206					C	95088046	A	C	95088046	3	2	431	1	0	0	0	0	1	0	0	0	13335	246	9	5	692	5	RHOBTB3	5	95088046	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	58963695	95088046	85827214	39	36713											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810520	140810520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcggagcgcggagtccGcatcatccccagaggtagga	15	13	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:140810520G>A	ENST00000252085.3	+	1	336	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	65	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTCCGCATCATCCCC	0.657																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(193-195)cGc>cAc									59	73	68					5																	140810520		2203	4300	6503	SO:0001583	missense	0							g.chr5:140810520G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.194G>A	5.37:g.140810520G>A	ENSP00000252085:p.Arg65His					PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R65H	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	336	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.194G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	17.33	3.362488	0.61403	.	.	ENSG00000253159	ENST00000252085	T	0.38240	1.15	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.57946	0.2088	M	0.92122	3.275	0.33650	D	0.608408	P;D	0.56746	0.923;0.977	P;P	0.50270	0.636;0.597	T	0.76271	-0.3020	9	0.51188	T	0.08	.	13.4402	0.61108	0.0761:0.0:0.9239:0.0	.	65;65	O60330-2;O60330	.;PCDGC_HUMAN	H	65	ENSP00000252085:R65H	ENSP00000252085:R65H	R	+	2	0	PCDHGA12	140790704	0.050000	0.20438	1.000000	0.80357	0.276000	0.26787	1.821000	0.39041	2.617000	0.88574	0.555000	0.69702	CGC		0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		9	239	0	0	0	1	0	9	239					A	140810520	G	A	140810520	3	1	431	1	0	0	0	0	1	0	0	0	11553	1087	38	1	196	1	PCDHGA12	5	140810520	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	45722474	140810520	40104740	40	36714											
PDE6A	5145	broad.mit.edu	37	chr5	149323960	149323960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatgaacaggctcatgcGgtctgcctgcaggaggaagc	14	10	2	1	rs200297339		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:149323960G>A	ENST00000255266.5	-	1	396	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	93	GAF 1.				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)	AGGCTCATGCGGTCTGCCTGC	0.517																																						ENST00000255266.5																			0				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						c.(277-279)Cgc>Tgc		phosphodiesterase 6A, cGMP-specific, rod, alpha		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	78	78	78		277	4.6	1	5		78	0,8600		0,0,4300	no	missense	PDE6A	NM_000440.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	93/861	149323960	2,13004	2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149323960G>A		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.277C>T	5.37:g.149323960G>A	ENSP00000255266:p.Arg93Cys						p.R93C	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		1	396	-			93			GAF 1.		Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.277C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129052	0.56721	4.54E-4	0.0	ENSG00000132915	ENST00000255266	T	0.74842	-0.88	5.47	4.6	0.57074	GAF (2);	0.055697	0.64402	N	0.000001	T	0.79621	0.4477	M	0.90425	3.115	0.58432	D	0.999999	P	0.39940	0.696	B	0.40940	0.344	T	0.82133	-0.0608	10	0.59425	D	0.04	.	11.8932	0.52641	0.0849:0.0:0.9151:0.0	.	93	P16499	PDE6A_HUMAN	C	93	ENSP00000255266:R93C	ENSP00000255266:R93C	R	-	1	0	PDE6A	149304153	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.754000	0.68743	1.315000	0.45114	0.561000	0.74099	CGC		0.517	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			27	101	0	0	0	1	0	27	101					A	149323960	G	A	149323960	3	1	431	1	0	0	0	0	1	0	0	0	11645	1116	39	1	2393	1	PDE6A	5	149323960	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	8513440	149323960	31591300	41	36715											
CDHR2	54825	broad.mit.edu	37	chr5	176011568	176011568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacctccggctgcccccGgacgtgagcctggattacga	13	15	0	1	rs147485475	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:176011568G>A	ENST00000510636.1	+	19	2560	c.2286G>A	c.(2284-2286)ccG>ccA	p.P762P	CDHR2_ENST00000506348.1_Silent_p.P762P|CDHR2_ENST00000261944.5_Silent_p.P762P	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	762	Cadherin 7. {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						GGCTGCCCCCGGACGTGAGCC	0.622													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18404	0.0		0.0	False		,,,				2504	0.001					ENST00000510636.1																			0				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						c.(2284-2286)ccG>ccA		cadherin-related family member 2		G	,	0,4406		0,0,2203	66	69	68		2286,2286	-10.2	0	5	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	762/1311,762/1311	176011568	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011568G>A	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.2286G>A	5.37:g.176011568G>A						CDHR2_ENST00000506348.1_Silent_p.P762P|CDHR2_ENST00000261944.5_Silent_p.P762P	p.P762P	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2560	+			762			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2286G>A	CCDS34297.1																																																																																				0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		5	237	0	0	0	1	0	5	237					A	176011568	G	A	176011568	2	1	431	1	0	0	0	0	0	0	0	1	3119	1103	39	1		1	CDHR2	5	176011568	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	26687608	176011568	4903692	42	36716											
SERPINB9	5272	broad.mit.edu	37	chr6	2890403	2890403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaagtgcaccctttatggCgatgagaacctgccacagaa	11	10	0	2	rs376915869		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:2890403C>T	ENST00000380698.4	-	7	1214	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCCTTTATGGCGATGAGAACC	0.542																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(1123-1125)tcG>tcA		serpin peptidase inhibitor, clade B (ovalbumin), member 9		T		0,4406		0,0,2203	58	54	55		1125	-6.7	0	6		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINB9	NM_004155.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		375/377	2890403	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2890403C>T	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1125G>A	6.37:g.2890403C>T							p.S375S	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			7	1214	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	375					B2RBW3|Q5TD03	Silent	SNP	ENST00000380698.4	37	c.1125G>A	CCDS4478.1																																																																																				0.542	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			47	42	0	0	0	1	0	47	42					T	2890403	C	T	2890403	2	4	431	1	0	0	0	0	0	0	0	1	14108	755	27	1		1	SERPINB9	6	2890403	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		2890403	168224664	43	36717											
HSPA1L	3305	broad.mit.edu	37	chr6	31779583	31779583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctacctggttcttggccGcatccccaatgagccgctcg	10	15	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:31779583G>A	ENST00000375654.4	-	2	356	c.167C>T	c.(166-168)gCg>gTg	p.A56V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	56					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						GTTCTTGGCCGCATCCCCAAT	0.532																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(166-168)gCg>gTg		heat shock 70kDa protein 1-like							123	110	114					6																	31779583		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779583G>A	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.167C>T	6.37:g.31779583G>A	ENSP00000364805:p.Ala56Val					HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	356	-			56					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.167C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894753	0.17613	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01084	5.36;5.36	4.52	3.65	0.41850	.	.	.	.	.	T	0.01156	0.0038	M	0.86864	2.845	0.80722	D	1	B	0.19935	0.04	B	0.15870	0.014	T	0.23691	-1.0181	9	0.87932	D	0	.	10.2878	0.43577	0.0971:0.0:0.9029:0.0	.	56	P34931	HS71L_HUMAN	V	56	ENSP00000364805:A56V;ENSP00000387691:A56V	ENSP00000364804:A56V	A	-	2	0	HSPA1L	31887562	1.000000	0.71417	0.307000	0.25127	0.017000	0.09413	7.815000	0.86186	1.106000	0.41623	-0.384000	0.06662	GCG		0.532	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			5	302	0	0	0	1	0	5	302					A	31779583	G	A	31779583	3	1	431	1	0	0	0	0	1	0	0	0	7410	1087	38	1	1762	1	HSPA1L	6	31779583	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	28889180	31779583	139335484	44	36718											
DAAM2	23500	broad.mit.edu	37	chr6	39846201	39846201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatggagcttgtgagccGtctggagaggaaggagcggg	18	7	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:39846201G>A	ENST00000398904.2	+	13	1564	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H|DAAM2_ENST00000538976.1_Missense_Mutation_p.R461H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	461					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)					CTTGTGAGCCGTCTGGAGAGG	0.547																																						ENST00000538976.1																			0				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						c.(1381-1383)cGt>cAt		dishevelled associated activator of morphogenesis 2							34	39	38					6																	39846201		2012	4179	6191	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39846201G>A	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.1382G>A	6.37:g.39846201G>A	ENSP00000381876:p.Arg461His					DAAM2_ENST00000398904.2_Missense_Mutation_p.R461H|DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H	p.R461H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			13	1564	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		461					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1382G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721597	0.68959	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.74209	-0.82;-0.82;-0.82	5.44	3.67	0.42095	.	0.373124	0.26241	N	0.025503	T	0.57562	0.2062	L	0.48642	1.525	0.80722	D	1	P;P	0.49696	0.927;0.88	P;B	0.45829	0.494;0.299	T	0.61806	-0.6987	10	0.72032	D	0.01	.	8.4848	0.33065	0.3044:0.0:0.6956:0.0	.	461;461	G5EA45;Q86T65	.;DAAM2_HUMAN	H	461	ENSP00000274867:R461H;ENSP00000381876:R461H;ENSP00000437808:R461H	ENSP00000274867:R461H	R	+	2	0	DAAM2	39954179	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.655000	0.46707	0.675000	0.31264	0.650000	0.86243	CGT		0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	15	0	0	0	1	0	7	15					A	39846201	G	A	39846201	3	1	431	1	0	0	0	0	1	0	0	0	4216	1145	40	1	1428	1	DAAM2	6	39846201	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	8066618	39846201	131268866	45	36719											
XPO5	57510	broad.mit.edu	37	chr6	43496612	43496612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgaggatgggggataccaggGcttcatagtgctctggggga	18	7	2	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:43496612G>T	ENST00000265351.7	-	24	2939	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	910					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)			GGATACCAGGGCTTCATAGTG	0.478																																						ENST00000265351.7																			0				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						c.(2728-2730)gCc>gAc		exportin 5							54	56	56					6																	43496612		1888	4104	5992	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43496612G>T	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.2729C>A	6.37:g.43496612G>T	ENSP00000265351:p.Ala910Asp					POLR1C_ENST00000304004.3_Intron	p.A910D	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		24	2939	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		910					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2729C>A	CCDS47430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.93|16.93	3.257113|3.257113	0.59321|0.59321	.|.	.|.	ENSG00000124571|ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465|ENST00000455285	T|.	0.66099|.	-0.19|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.272209|.	0.39475|.	N|.	0.001348|.	T|T	0.23289|0.23289	0.0563|0.0563	N|N	0.03608|0.03608	-0.345|-0.345	0.36695|0.36695	D|D	0.87981|0.87981	B|.	0.19817|.	0.039|.	B|.	0.16722|.	0.016|.	T|T	0.23190|0.23190	-1.0195|-1.0195	10|5	0.10636|.	T|.	0.68|.	-0.5402|-0.5402	18.3382|18.3382	0.90295|0.90295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	910|.	Q9HAV4|.	XPO5_HUMAN|.	D|T	910;615;450;538|14	ENSP00000265351:A910D|.	ENSP00000265351:A910D|.	A|P	-|-	2|1	0|0	XPO5|XPO5	43604590|43604590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	4.575000|4.575000	0.60908|0.60908	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.478	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		4	45	1	0	2.56e-06	1	2.61525e-06	4	45					T	43496612	G	T	43496612	3	4	431	1	0	0	0	0	1	0	0	0	17444	1203	42	4	921	4	XPO5	6	43496612	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	3650411	43496612	127618455	46	36720											
TDRD6	221400	broad.mit.edu	37	chr6	46656908	46656908	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcttcatgtggactAtggaaggaaggagttagtga	15	5	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:46656908A>G	ENST00000316081.6	+	1	1043	c.1043A>G	c.(1042-1044)tAt>tGt	p.Y348C	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.Y348C|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	348	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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)			CATGTGGACTATGGAAGGAAG	0.532																																						ENST00000544460.1																			0				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						c.(1042-1044)tAt>tGt		tudor domain containing 6							111	103	105					6																	46656908		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656908A>G	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.1043A>G	6.37:g.46656908A>G	ENSP00000346065:p.Tyr348Cys					TDRD6_ENST00000316081.6_Missense_Mutation_p.Y348C	p.Y348C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1297	+			348			Tudor 2.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1043A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307541	0.23821	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.42	5.45	1.54	0.23209	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.528090	0.22622	N	0.057700	T	0.07908	0.0198	M	0.68593	2.085	0.27684	N	0.946353	B;B	0.32409	0.319;0.37	B;B	0.39706	0.204;0.307	T	0.29852	-0.9998	10	0.59425	D	0.04	-16.3726	2.3734	0.04336	0.5086:0.1329:0.0703:0.2882	.	348;348	F5H5M3;O60522	.;TDRD6_HUMAN	C	348	ENSP00000443299:Y348C;ENSP00000346065:Y348C	ENSP00000346065:Y348C	Y	+	2	0	TDRD6	46764867	0.026000	0.19158	0.229000	0.23960	0.948000	0.59901	0.469000	0.22067	0.099000	0.17552	-0.291000	0.09656	TAT		0.532	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	125	0	0	0	1	0	7	125					G	46656908	A	G	46656908	3	3	431	1	0	0	0	0	1	0	0	0	15731	449	16	3	1045	3	TDRD6	6	46656908	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	3160296	46656908	124458159	47	36721											
RNGTT	8732	broad.mit.edu	37	chr6	89600293	89600293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttgtccatggaaacagGctgtgctccagggaatccag	12	10	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:89600293G>A	ENST00000369485.4	-	8	1003	c.817C>T	c.(817-819)Cct>Tct	p.P273S	RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	273	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)		ATGGAAACAGGCTGTGCTCCA	0.383																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(817-819)Cct>Tct		RNA guanylyltransferase and 5'-phosphatase							101	93	95					6																	89600293		2203	4300	6503	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89600293G>A	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.817C>T	6.37:g.89600293G>A	ENSP00000358497:p.Pro273Ser					RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S|RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S	p.P273S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	8	1003	-		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)	273			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.817C>T	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681832	0.88542	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.3	5.3	0.74995	mRNA capping enzyme (1);	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	H	0.94847	3.59	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	0.95499	0.8576	10	0.87932	D	0	.	19.3081	0.94173	0.0:0.0:1.0:0.0	.	213;273;273;273	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	S	273;273;213;244;273	ENSP00000358497:P273S;ENSP00000265607:P273S;ENSP00000442609:P213S;ENSP00000358487:P273S	ENSP00000265607:P273S	P	-	1	0	RNGTT	89657012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.311000	0.96282	2.638000	0.89438	0.591000	0.81541	CCT		0.383	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			44	80	0	0	0	1	0	44	80					A	89600293	G	A	89600293	3	1	431	1	0	0	0	0	1	0	0	0	13503	1203	42	2	1012	2	RNGTT	6	89600293	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	42943385	89600293	81514774	48	36722											
SIM1	6492	broad.mit.edu	37	chr6	100868816	100868816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatccagggagagctgcagCcctttgtattctgtgtctct	11	10	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:100868816C>A	ENST00000369208.3	-	10	1799	c.1017G>T	c.(1015-1017)ggG>ggT	p.G339G	SIM1_ENST00000262901.4_Silent_p.G339G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	339	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				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)		AGAGCTGCAGCCCTTTGTATT	0.502																																						ENST00000369208.3																			0				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						c.(1015-1017)ggG>ggT		single-minded family bHLH transcription factor 1							88	80	83					6																	100868816		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868816C>A	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.1017G>T	6.37:g.100868816C>A						SIM1_ENST00000262901.4_Silent_p.G339G	p.G339G			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1799	-		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)	339			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1017G>T	CCDS5045.1																																																																																				0.502	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		3	50	1	0	6.4e-05	1	6.44539e-05	3	50					A	100868816	C	A	100868816	2	1	431	1	0	0	0	0	0	0	0	1	14323	726	26	4		4	SIM1	6	100868816	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	11268523	100868816	70246251	49	36723											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		8	240	0	0	0	1	0	8	240					T	108214765	A	T	108214765	4	4	431	1	0	0	0	0	0	1	0	0	14005	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	7345949	108214765	62900302	50	36724											
C6orf115	58527	broad.mit.edu	37	chr6	139363876	139363876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgatggaaagttaagcGtgaaatttggggtcctcttc	12	6	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:139363876G>A	ENST00000367660.3	+	3	282	c.82G>A	c.(82-84)Gtg>Atg	p.V28M		NM_021243.2	NP_067066.1	Q9P1F3	ABRAL_HUMAN	ABRA C-terminal like	28																	AAAGTTAAGCGTGAAATTTGG	0.368																																						ENST00000367660.3																			0											c.(82-84)Gtg>Atg		ABRA C-terminal like							233	213	219					6																	139363876		1895	4113	6008	SO:0001583	missense	58527							g.chr6:139363876G>A	BC014953	CCDS43509.1	6q24.1	2012-03-05	2012-03-05	2012-03-05	ENSG00000146386	ENSG00000146386			21230	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 115"	C6orf115		21082705	Standard	NM_021243		Approved	PRO2013, HSPC280, Costars	uc003qil.2	Q9P1F3	OTTHUMG00000015684	ENST00000367660.3:c.82G>A	6.37:g.139363876G>A	ENSP00000356632:p.Val28Met						p.V28M	NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN			3	282	+			28					Q5SZC8|Q9P0A1	Missense_Mutation	SNP	ENST00000367660.3	37	c.82G>A	CCDS43509.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790367	0.90367	.	.	ENSG00000146386	ENST00000367660	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83134	-0.0112	8	0.87932	D	0	-1.381	19.8961	0.96958	0.0:0.0:1.0:0.0	.	28	Q9P1F3	CF115_HUMAN	M	28	.	ENSP00000356632:V28M	V	+	1	0	C6orf115	139405569	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	9.334000	0.96470	2.699000	0.92147	0.655000	0.94253	GTG		0.368	ABRACL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042445.1	NM_021243		8	349	0	0	0	1	0	8	349					A	139363876	G	A	139363876	3	1	431	1	0	0	0	0	1	0	0	0	2322	1145	40	1	88	1	C6orf115	6	139363876	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	31149111	139363876	31751191	51	36725											
SASH1	23328	broad.mit.edu	37	chr6	148865734	148865734	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccagcactggctcccaggcCtctctcagggcaggcgcctg	12	18	2	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:148865734C>G	ENST00000367467.3	+	18	3603	c.3128C>G	c.(3127-3129)cCt>cGt	p.P1043R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1043	Pro-rich.				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)		GCTCCCAGGCCTCTCTCAGGG	0.697																																						ENST00000367467.3																			0				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						c.(3127-3129)cCt>cGt		SAM and SH3 domain containing 1							15	18	17					6																	148865734		2199	4296	6495	SO:0001583	missense	23328						protein binding	g.chr6:148865734C>G	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.3128C>G	6.37:g.148865734C>G	ENSP00000356437:p.Pro1043Arg						p.P1043R	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3603	+		Ovarian(120;0.0169)	1043			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3128C>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828322	0.16749	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.37411	1.2	4.77	4.77	0.60923	.	0.345548	0.29806	N	0.011160	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.26969	0.075;0.047	T	0.20739	-1.0266	10	0.87932	D	0	-0.8224	17.7923	0.88558	0.0:1.0:0.0:0.0	.	1024;1043	Q6P4R9;O94885	.;SASH1_HUMAN	R	1043;453	ENSP00000356437:P1043R	ENSP00000356437:P1043R	P	+	2	0	SASH1	148907427	0.019000	0.18553	0.003000	0.11579	0.013000	0.08279	2.602000	0.46257	2.198000	0.70561	0.650000	0.86243	CCT		0.697	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	44	0	0	0	1	0	4	44					G	148865734	C	G	148865734	3	3	431	1	0	0	0	0	1	0	0	0	13848	681	24	4	3198	4	SASH1	6	148865734	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9501858	148865734	22249333	52	36726											
TBX20	57057	broad.mit.edu	37	chr7	35280566	35280566	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttctaaattcttcagacttCaggttgagcaatgaggctgt	10	7	4	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:35280566C>T	ENST00000408931.3	-	5	1264	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	246					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CTTCAGACTTCAGGTTGAGCA	0.393																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(736-738)ctG>ctA		T-box 20							113	103	106					7																	35280566		2203	4300	6503	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35280566C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.738G>A	7.37:g.35280566C>T							p.L246L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			5	1264	-			246					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.738G>A	CCDS43568.1																																																																																				0.393	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		4	118	0	0	0	1	0	4	118					T	35280566	C	T	35280566	2	4	431	1	0	0	0	0	0	0	0	1	15653	813	29	2		2	TBX20	7	35280566	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		35280566	123858097	53	36727											
ABCA13	154664	broad.mit.edu	37	chr7	48349704	48349704	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgattgtgttgctgaGtcgaaacttggatgtgcgag	13	6	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:48349704G>C	ENST00000435803.1	+	24	9506	c.9482G>C	c.(9481-9483)aGt>aCt	p.S3161T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3161					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						GTGTTGCTGAGTCGAAACTTG	0.512																																						ENST00000435803.1																			0				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						c.(9481-9483)aGt>aCt		ATP-binding cassette, sub-family A (ABC1), member 13							260	257	258					7																	48349704		2002	4187	6189	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48349704G>C	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.9482G>C	7.37:g.48349704G>C	ENSP00000411096:p.Ser3161Thr						p.S3161T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			24	9506	+			3161					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9482G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.579	0.668326	0.14776	.	.	ENSG00000179869	ENST00000435803	D	0.85258	-1.96	5.84	0.575	0.17374	.	0.565106	0.17106	N	0.186790	T	0.69142	0.3078	N	0.14661	0.345	0.09310	N	1	B;B	0.17852	0.003;0.024	B;B	0.10450	0.002;0.005	T	0.52487	-0.8569	10	0.19147	T	0.46	.	9.713	0.40256	0.0:0.3272:0.3057:0.3671	.	863;3161	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3161	ENSP00000411096:S3161T	ENSP00000411096:S3161T	S	+	2	0	ABCA13	48320250	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	-0.015000	0.12634	0.073000	0.16731	-0.181000	0.13052	AGT		0.512	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		11	458	0	0	0	1	0	11	458					C	48349704	G	C	48349704	3	2	431	1	0	0	0	0	1	0	0	0	31	1029	36	4	9405	4	ABCA13	7	48349704	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	13069138	48349704	110788959	54	36728											
CACNA2D1	781	broad.mit.edu	37	chr7	81598290	81598290	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataggcaccaggtccactttCtaaaaaaaaaataaataaat	4	7	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:81598290C>G	ENST00000356253.5	-	29	2600		c.e29-1		CACNA2D1_ENST00000356860.3_Splice_Site|CACNA2D1_ENST00000535308.1_Intron			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGTCCACTTTCtaaaaaaaaa	0.284																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e29-1		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						54	58	56					7																	81598290		2199	4292	6491	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81598290C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2345-1G>C	7.37:g.81598290C>G						CACNA2D1_ENST00000356253.5_Splice_Site|CACNA2D1_ENST00000535308.1_Intron		NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			29	2647	-								Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	SNP	ENST00000356253.5	37			.	.	.	.	.	.	.	.	.	.	C	15.55	2.865720	0.51588	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9785	0.86321	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D1	81436226	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.800000	0.38833	2.518000	0.84900	0.484000	0.47621	.		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Intron	5	214	0	0	0	1	0	5	214					G	81598290	C	G	81598290	5	3	431	1	0	0	0	0	0	0	1	0	2548	927	32	4	1011	4	CACNA2D1	7	81598290	Splice_Site	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	33248586	81598290	77540373	55	36729											
CYP3A5	1577	broad.mit.edu	37	chr7	99250313	99250313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaagtcctctcaagTctaatagcaactgggaataa	7	9	3	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:99250313T>C	ENST00000222982.4	-	11	1215	c.1116A>G	c.(1114-1116)agA>agG	p.R372R	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Silent_p.R362R	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	372					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCCTCTCAAGTCTAATAGCAA	0.443																																						ENST00000343703.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1084-1086)agA>agG		cytochrome P450, family 3, subfamily A, polypeptide 5							156	136	142					7																	99250313		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr7:99250313T>C	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1116A>G	7.37:g.99250313T>C						CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.R372R	p.R362R							12	1472	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)							A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.1086A>G	CCDS5672.1																																																																																				0.443	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			18	151	0	0	0	1	0	18	151					C	99250313	T	C	99250313	2	2	431	1	0	0	0	0	0	0	0	1	4180	1664	58	3		3	CYP3A5	7	99250313	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	17652023	99250313	59888350	56	36730											
MEPCE	56257	broad.mit.edu	37	chr7	100028465	100028465	+	Frame_Shift_Del	DEL	C	C	-													gcaccaccagcagcagcaggCagccggagggagtgagagtc							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:100028465delC	ENST00000310512.2	+	1	1212	c.824delC	c.(823-825)gcafs	p.A276fs	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	276					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGCAGGCAGCCGGAGGG	0.652																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(823-825)gafs		methylphosphate capping enzyme							89	98	95					7																	100028465		2203	4300	6503	SO:0001589	frameshift_variant	56257						methyltransferase activity	g.chr7:100028465delC	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.824delC	7.37:g.100028465delC	ENSP00000308546:p.Ala276fs					MEPCE_ENST00000414441.1_5'UTR	p.A276fs	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1212	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		276					B3KP86|D6W5V7|Q9NPD4	Frame_Shift_Del	DEL	ENST00000310512.2	37	c.824delC	CCDS5693.1																																																																																				0.652	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			28	311						28	311	---	---	---	---	-	100028465	C	-	100028465	7	5	431	1	0	1	0	1	0	0	0	0	9477	710	25	0	826	0	MEPCE	7	100028465	Frame_Shift_Del	DEL	C	TCGA-S9-A6WH-01A-12D-A33T-08	778152	100028465	59110198	57	36731											
BMP1	649	broad.mit.edu	37	chr8	22064961	22064961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctggccacaggcagccGcatgttcctgcgcttctact	10	16	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:22064961G>A	ENST00000306385.5	+	18	3177	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	836	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)		ACAGGCAGCCGCATGTTCCTG	0.642																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2506-2508)cGc>cAc		bone morphogenetic protein 1							55	52	53					8																	22064961		2202	4299	6501	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064961G>A		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.2507G>A	8.37:g.22064961G>A	ENSP00000305714:p.Arg836His					BMP1_ENST00000354870.5_3'UTR	p.R836H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	18	3177	+			836			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2507G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683420	0.47991	.	.	ENSG00000168487	ENST00000306385	T	0.19105	2.17	5.26	5.26	0.73747	CUB (5);	0.000000	0.39274	U	0.001412	T	0.14743	0.0356	N	0.20685	0.6	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	T	0.05835	-1.0861	10	0.33940	T	0.23	.	13.4054	0.60911	0.0:0.1582:0.8418:0.0	.	836	P13497	BMP1_HUMAN	H	836	ENSP00000305714:R836H	ENSP00000305714:R836H	R	+	2	0	BMP1	22120906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.173000	0.58249	2.457000	0.83068	0.561000	0.74099	CGC		0.642	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		4	152	0	0	0	1	0	4	152					A	22064961	G	A	22064961	3	1	431	1	0	0	0	0	1	0	0	0	1456	1087	38	1	2667	1	BMP1	8	22064961	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		22064961	124299061	58	36732											
PTK2B	2185	broad.mit.edu	37	chr8	27279865	27279865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgccagcaaggtcagcgaGggcatggccctgcagctggg	16	12	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:27279865G>A	ENST00000397501.1	+	10	1324	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000338238.4_Silent_p.E172E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	172	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)	AGGTCAGCGAGGGCATGGCCC	0.652																																						ENST00000397501.1																			0				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						c.(514-516)gaG>gaA		protein tyrosine kinase 2 beta							64	53	56					8																	27279865		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27279865G>A	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.516G>A	8.37:g.27279865G>A						PTK2B_ENST00000338238.4_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E	p.E172E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	10	1324	+		Ovarian(32;2.72e-05)	172			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.516G>A	CCDS6057.1																																																																																				0.652	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		3	69	0	0	0	1	0	3	69					A	27279865	G	A	27279865	2	1	431	1	0	0	0	0	0	0	0	1	12763	991	35	2		2	PTK2B	8	27279865	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	5214904	27279865	119084157	59	36733											
KCNU1	157855	broad.mit.edu	37	chr8	36793054	36793054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgatcacccggccagcCaatgagttcaagctgctgcc	10	13	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:36793054C>T	ENST00000399881.3	+	27	3103	c.3066C>T	c.(3064-3066)gcC>gcT	p.A1022A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1022					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)		CCCGGCCAGCCAATGAGTTCA	0.458																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(3064-3066)gcC>gcT		potassium channel, subfamily U, member 1							117	114	115					8																	36793054		1934	4159	6093	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793054C>T	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.3066C>T	8.37:g.36793054C>T							p.A1022A	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3103	+			1022						Silent	SNP	ENST00000399881.3	37	c.3066C>T	CCDS55220.1																																																																																				0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		9	245	0	0	0	1	0	9	245					T	36793054	C	T	36793054	2	4	431	1	0	0	0	0	0	0	0	1	8093	581	21	2		2	KCNU1	8	36793054	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9513189	36793054	109570968	60	36734											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734844	37734844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcatcatcactgtcgacCgaaggtgtcgtgctagggat	12	10	3	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:37734844C>T	ENST00000330843.4	-	2	609	c.597G>A	c.(595-597)tcG>tcA	p.S199S	RAB11FIP1_ENST00000287263.4_Silent_p.S199S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S|RAB11FIP1_ENST00000524118.1_Silent_p.S51S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	199					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)			CACTGTCGACCGAAGGTGTCG	0.468																																						ENST00000330843.4																			0				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						c.(595-597)tcG>tcA		RAB11 family interacting protein 1 (class I)							281	256	265					8																	37734844		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37734844C>T	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.597G>A	8.37:g.37734844C>T						RAB11FIP1_ENST00000287263.4_Silent_p.S199S|RAB11FIP1_ENST00000524118.1_Silent_p.S51S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S	p.S199S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	609	-		Lung NSC(58;0.118)|all_lung(54;0.195)	199					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.597G>A	CCDS34882.1																																																																																				0.468	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		11	406	0	0	0	1	0	11	406					T	37734844	C	T	37734844	2	4	431	1	0	0	0	0	0	0	0	1	12893	639	23	1		1	RAB11FIP1	8	37734844	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	941790	37734844	108629178	61	36735											
PRKDC	5591	broad.mit.edu	37	chr8	48790318	48790318	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaactggattgaaatAattcttccatgacatgctgc	7	9	1	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:48790318A>T	ENST00000314191.2	-	41	5383	c.5327T>A	c.(5326-5328)tTa>tAa	p.L1776*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1777					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)	GGATTGAAATAATTCTTCCAT	0.413								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(5326-5328)tTa>tAa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							129	127	128					8																	48790318		1889	4101	5990	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48790318A>T		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.5327T>A	8.37:g.48790318A>T	ENSP00000313420:p.Leu1776*					PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*|PRKDC_ENST00000523565.1_5'UTR	p.L1776*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			41	5383	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1777					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.5327T>A		.	.	.	.	.	.	.	.	.	.	A	44	10.968048	0.99496	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.65	4.46	0.54185	.	0.296531	0.28219	N	0.016147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8612	0.52467	0.8688:0.0:0.0:0.1312	.	.	.	.	X	1776	.	ENSP00000313420:L1776X	L	-	2	0	PRKDC	48952871	0.568000	0.26635	0.991000	0.47740	0.533000	0.34776	2.554000	0.45845	0.915000	0.36847	0.477000	0.44152	TTA		0.413	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		8	238	0	0	0	1	0	8	238					T	48790318	A	T	48790318	4	4	431	1	0	0	0	0	0	1	0	0	12521	372	13	5	7244	5	PRKDC	8	48790318	Nonsense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	11055474	48790318	97573704	62	36736											
CYP7A1	1581	broad.mit.edu	37	chr8	59404091	59404091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatggcggcaaaatgccCaagcctgcccgggactggtc	12	13	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:59404091C>A	ENST00000301645.3	-	6	1595	c.1458G>T	c.(1456-1458)ttG>ttT	p.L486F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	486					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)				GCAAAATGCCCAAGCCTGCCC	0.383									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1456-1458)ttG>ttT		cytochrome P450, family 7, subfamily A, polypeptide 1							37	38	37					8																	59404091		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404091C>A	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.1458G>T	8.37:g.59404091C>A	ENSP00000301645:p.Leu486Phe						p.L486F	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			6	1595	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	486					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1458G>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719505	0.48728	.	.	ENSG00000167910	ENST00000301645	T	0.69926	-0.44	5.74	0.869	0.19096	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.33624	1.015	0.58432	D	0.999995	P	0.51351	0.944	P	0.50192	0.634	T	0.51988	-0.8635	10	0.10377	T	0.69	-17.334	4.1462	0.10217	0.2408:0.4373:0.0:0.322	.	486	P22680	CP7A1_HUMAN	F	486	ENSP00000301645:L486F	ENSP00000301645:L486F	L	-	3	2	CYP7A1	59566645	0.761000	0.28439	0.983000	0.44433	0.949000	0.60115	-0.037000	0.12164	-0.050000	0.13356	0.563000	0.77884	TTG		0.383	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		22	106	1	0	8.10497e-08	1	8.3399e-08	22	106					A	59404091	C	A	59404091	3	1	431	1	0	0	0	0	1	0	0	0	4196	593	21	4	60	4	CYP7A1	8	59404091	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	10613773	59404091	86959931	63	36737											
C8orf34	116328	broad.mit.edu	37	chr8	69688649	69688649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagggagaagcctccagtGgagtaggacactcactgaaa	12	9	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:69688649G>A	ENST00000539993.1	+	11	1711	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000337103.4_Missense_Mutation_p.G363R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	388										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGCCTCCAGTGGAGTAGGACA	0.408																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1087-1089)Gga>Aga		chromosome 8 open reading frame 34							85	87	86					8																	69688649		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69688649G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1162G>A	8.37:g.69688649G>A	ENSP00000438159:p.Gly388Arg					C8orf34_ENST00000539993.1_Missense_Mutation_p.G388R|C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R	p.G363R			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		10	2679	+			388					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1087G>A		.	.	.	.	.	.	.	.	.	.	G	13.09	2.132904	0.37630	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.44881	0.92;0.96;0.95;0.91	5.43	4.53	0.55603	.	0.479295	0.22792	N	0.055597	T	0.26376	0.0644	N	0.19112	0.55	0.33611	D	0.60362	B	0.22746	0.074	B	0.23574	0.047	T	0.23226	-1.0194	9	.	.	.	-13.2896	10.3287	0.43809	0.0907:0.0:0.9093:0.0	.	388	Q49A92	CH034_HUMAN	R	474;388;363;132	ENSP00000427820:G474R;ENSP00000438159:G388R;ENSP00000337174:G363R;ENSP00000319532:G132R	.	G	+	1	0	C8orf34	69851203	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	2.376000	0.44292	2.824000	0.97209	0.655000	0.94253	GGA		0.408	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		5	167	0	0	0	1	0	5	167					A	69688649	G	A	69688649	3	1	431	1	0	0	0	0	1	0	0	0	2422	1349	47	2	1125	2	C8orf34	8	69688649	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	10284558	69688649	76675373	64	36738											
EYA1	2138	broad.mit.edu	37	chr8	72127688	72127688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacccatacagcaggacttTcgccaatgctgggatgagct	10	11	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:72127688T>C	ENST00000340726.3	-	16	2170	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	EYA1_ENST00000388742.4_Missense_Mutation_p.K511E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000388741.2_Missense_Mutation_p.K477E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	511					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)	p.K511*(1)		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)			AGCAGGACTTTCGCCAATGCT	0.338																																						ENST00000340726.3																			1	Substitution - Nonsense(1)	p.K511*(1)	lung(1)	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						c.(1531-1533)Aaa>Gaa		eyes absent homolog 1 (Drosophila)							90	95	93					8																	72127688		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72127688T>C	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.1531A>G	8.37:g.72127688T>C	ENSP00000342626:p.Lys511Glu					EYA1_ENST00000388742.4_Missense_Mutation_p.K511E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388741.2_Missense_Mutation_p.K477E	p.K511E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		16	2170	-	Breast(64;0.046)		511					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1531A>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	31	5.058462	0.93846	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.52	5.52	0.82312	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.099742	0.64402	D	0.000002	D	0.90971	0.7161	M	0.79614	2.46	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	0.976;1.0;0.999;0.976;0.993	D	0.92155	0.5731	10	0.87932	D	0	-18.5334	15.6365	0.76958	0.0:0.0:0.0:1.0	.	505;438;478;511;476	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	E	511;511;479;478;505;477;510;476	ENSP00000373394:K511E;ENSP00000342626:K511E;ENSP00000373392:K478E;ENSP00000303221:K505E;ENSP00000373393:K477E;ENSP00000373395:K510E;ENSP00000410176:K476E	ENSP00000303221:K505E	K	-	1	0	EYA1	72290242	1.000000	0.71417	0.917000	0.36280	0.967000	0.64934	7.954000	0.87848	2.091000	0.63221	0.460000	0.39030	AAA		0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		9	258	0	0	0	1	0	9	258					C	72127688	T	C	72127688	3	2	431	1	0	0	0	0	1	0	0	0	5328	1792	62	3	259	3	EYA1	8	72127688	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	2439039	72127688	74236334	65	36739											
TMEM70	54968	broad.mit.edu	37	chr8	74893730	74893733	+	Frame_Shift_Del	DEL	GTTA	GTTA	-													tatgctaaaacaaaatcactGttagttaatccagtgctctt							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:74893730_74893733delGTTA	ENST00000312184.5	+	3	730_733	c.657_660delGTTA	c.(655-660)ctgttafs	p.LL219fs	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	219					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CAAAATCACTGTTAGTTAATCCAG	0.348																																						ENST00000312184.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(655-660)ctfs		transmembrane protein 70																																				SO:0001589	frameshift_variant	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74893730_74893733delGTTA	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.657_660delGTTA	8.37:g.74893734_74893737delGTTA	ENSP00000312599:p.Leu219fs						p.LL219fs	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		3	730_733	+	Breast(64;0.0311)		219					E9PDY9|Q9NWY5	Frame_Shift_Del	DEL	ENST00000312184.5	37	c.657_660delGTTA	CCDS6215.1																																																																																				0.348	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		20	178						20	178	---	---	---	---	-	74893733	GTTA	-	74893730	7	5	431	1	0	1	0	1	0	0	0	0	16196	1364	48	0	675	0	TMEM70	8	74893730	Frame_Shift_Del	DEL	GTTA	TCGA-S9-A6WH-01A-12D-A33T-08	2766042	74893730	71470292	66	36740											
RAD54B	25788	broad.mit.edu	37	chr8	95412677	95412677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagcaagaatagctccaCatctgccattcattctgtta	5	12	4	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:95412677C>T	ENST00000336148.5	-	7	1083	c.959G>A	c.(958-960)tGt>tAt	p.C320Y		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	320	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AATAGCTCCACATCTGCCATT	0.373								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(958-960)tGt>tAt	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							51	45	47					8																	95412677		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95412677C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.959G>A	8.37:g.95412677C>T	ENSP00000336606:p.Cys320Tyr						p.C320Y	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		7	1083	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.959G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	0.466	-0.886859	0.02511	.	.	ENSG00000197275	ENST00000336148	D	0.93019	-3.15	5.65	-3.02	0.05446	DEAD-like helicase (2);SNF2-related (1);	0.452778	0.27754	N	0.017989	T	0.74382	0.3709	N	0.02876	-0.465	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.64829	-0.6315	10	0.02654	T	1	-24.9501	6.1766	0.20447	0.2384:0.2349:0.0:0.5268	.	320	Q9Y620	RA54B_HUMAN	Y	320	ENSP00000336606:C320Y	ENSP00000336606:C320Y	C	-	2	0	RAD54B	95481853	0.784000	0.28713	0.954000	0.39281	0.929000	0.56500	-0.049000	0.11924	-0.423000	0.07394	-0.355000	0.07637	TGT		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		12	51	0	0	0	1	0	12	51					T	95412677	C	T	95412677	3	4	431	1	0	0	0	0	1	0	0	0	12992	478	17	2	1809	2	RAD54B	8	95412677	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	20518947	95412677	50951345	67	36741											
CYLC2	1539	broad.mit.edu	37	chr9	105767734	105767734	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaaggtaagaaagataAgaagaagcccagtagtacag	10	4	0	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr9:105767734A>T	ENST00000374798.3	+	5	891	c.821A>T	c.(820-822)aAg>aTg	p.K274M	CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	274	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)				AAGAAAGATAAGAAGAAGCCC	0.393																																						ENST00000374798.3																			0				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						c.(820-822)aAg>aTg		cylicin, basic protein of sperm head cytoskeleton 2							102	98	100					9																	105767734		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767734A>T	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.821A>T	9.37:g.105767734A>T	ENSP00000420256:p.Lys274Met					CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M	p.K274M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			5	891	+		all_hematologic(171;0.125)	274			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.821A>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644146	0.29246	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16597	2.33;2.33	4.5	0.625	0.17665	.	1.660540	0.03869	N	0.275258	T	0.23766	0.0575	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.57468	0.821	T	0.40496	-0.9560	10	0.62326	D	0.03	-2.6262	10.3899	0.44162	0.4947:0.5053:0.0:0.0	.	274	Q14093	CYLC2_HUMAN	M	274	ENSP00000420256:K274M;ENSP00000417674:K274M	ENSP00000420256:K274M	K	+	2	0	CYLC2	104807555	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.265000	0.08644	0.024000	0.15214	0.467000	0.42956	AAG		0.393	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		72	99	0	0	0	1	0	72	99					T	105767734	A	T	105767734	3	4	431	1	0	0	0	0	1	0	0	0	4142	72	3	5	839	5	CYLC2	9	105767734	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		105767734	35445697	68	36742											
OR13C4	138804	broad.mit.edu	37	chr9	107288802	107288802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgtgtcttcctgtggccGagttcgttcgcaagatggtg	13	10	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr9:107288802G>A	ENST00000277216.3	-	1	688	c.689C>T	c.(688-690)tCg>tTg	p.S230L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230*(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCCTGTGGCCGAGTTCGTTCG	0.418																																						ENST00000277216.3																			1	Substitution - Nonsense(1)	p.S230*(1)	lung(1)	breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(688-690)tCg>tTg		olfactory receptor, family 13, subfamily C, member 4							126	126	126					9																	107288802		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288802G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.689C>T	9.37:g.107288802G>A	ENSP00000277216:p.Ser230Leu						p.S230L	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	688	-			230					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.689C>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	G	6.878	0.531354	0.13127	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00330	8.08	4.05	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.199806	0.24681	N	0.036471	T	0.00815	0.0027	M	0.93808	3.46	0.09310	N	1	D	0.67145	0.996	P	0.60541	0.876	T	0.29971	-0.9994	10	0.87932	D	0	.	8.1999	0.31419	0.1954:0.0:0.8046:0.0	.	230	Q8NGS5	O13C4_HUMAN	L	230;259	ENSP00000277216:S230L	ENSP00000277216:S230L	S	-	2	0	OR13C4	106328623	0.001000	0.12720	0.348000	0.25681	0.005000	0.04900	1.159000	0.31749	0.460000	0.27045	0.585000	0.79938	TCG		0.418	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			5	266	0	0	0	1	0	5	266					A	107288802	G	A	107288802	3	1	431	1	0	0	0	0	1	0	0	0	10936	1059	37	1	269	1	OR13C4	9	107288802	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1521068	107288802	33924629	69	36743											
ASB13	79754	broad.mit.edu	37	chr10	5693260	5693260	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcaagagcttcacacActcgatgctgcccgaggcgc	12	14	1	1	rs139712171		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:5693260A>C	ENST00000357700.6	-	3	324	c.298T>G	c.(298-300)Tgt>Ggt	p.C100G	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	100					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)		AGCTTCACACACTCGATGCTG	0.632																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(298-300)Tgt>Ggt		ankyrin repeat and SOCS box containing 13							59	51	54					10																	5693260		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5693260A>C	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.298T>G	10.37:g.5693260A>C	ENSP00000350331:p.Cys100Gly					ASB13_ENST00000479033.1_Intron	p.C100G	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	324	-			100					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.298T>G	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294450	0.81025	.	.	ENSG00000196372	ENST00000357700	T	0.65549	-0.16	4.61	4.61	0.57282	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.83774	2.66	0.58432	D	0.999999	D;P	0.57257	0.979;0.814	P;P	0.51079	0.658;0.625	T	0.78981	-0.1989	10	0.87932	D	0	-6.6247	13.6562	0.62339	1.0:0.0:0.0:0.0	.	100;100	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	G	100	ENSP00000350331:C100G	ENSP00000350331:C100G	C	-	1	0	ASB13	5733266	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.751000	0.91628	1.716000	0.51395	0.459000	0.35465	TGT		0.632	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			20	74	0	0	0	1	0	20	74					C	5693260	A	C	5693260	3	2	431	1	0	0	0	0	1	0	0	0	1017	159	6	5	554	5	ASB13	10	5693260	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		5693260	129841487	70	36744											
C10orf18	54906	broad.mit.edu	37	chr10	5782302	5782302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccaaggatcgaccaccGtctgcccgtgtgaaaaaatc	9	13	1	1	rs374458929		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:5782302G>A	ENST00000328090.5	+	13	2794	c.2169G>A	c.(2167-2169)ccG>ccA	p.P723P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	723																	ATCGACCACCGTCTGCCCGTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		21475	0.001		0.0	False		,,,				2504	0.0					ENST00000328090.5																			0											c.(2167-2169)ccG>ccA		family with sequence similarity 208, member B		G		0,3868		0,0,1934	75	74	74		2169	1.3	0	10		74	4,8244		0,4,4120	no	coding-synonymous	FAM208B	NM_017782.4		0,4,6054	AA,AG,GG		0.0485,0.0,0.033		723/2431	5782302	4,12112	1934	4124	6058	SO:0001819	synonymous_variant	54906							g.chr10:5782302G>A	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.2169G>A	10.37:g.5782302G>A						RP11-336A10.2_ENST00000411512.2_RNA	p.P723P	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2794	+			723					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.2169G>A	CCDS41485.1																																																																																				0.498	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		12	202	0	0	0	1	0	12	202					A	5782302	G	A	5782302	2	1	431	1	0	0	0	0	0	0	0	1	1596	1132	40	1		1	C10orf18	10	5782302	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	89042	5782302	129752445	71	36745											
MTPAP	55149	broad.mit.edu	37	chr10	30602556	30602556	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatgtctgagtactaatTgttctcttcccactggtttt	6	10	3	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:30602556T>C	ENST00000263063.4	-	9	1774	c.1731A>G	c.(1729-1731)acA>acG	p.T577T	MTPAP_ENST00000358107.4_Silent_p.T707T|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	577					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						GAGTACTAATTGTTCTCTTCC	0.348																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2119-2121)acA>acG		mitochondrial poly(A) polymerase							152	152	152					10																	30602556		2203	4300	6503	SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602556T>C	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.1731A>G	10.37:g.30602556T>C						MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Silent_p.T577T	p.T707T			Q9NVV4	PAPD1_HUMAN			10	2120	-			577					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000263063.4	37	c.2121A>G	CCDS7165.1																																																																																				0.348	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		6	406	0	0	0	1	0	6	406					C	30602556	T	C	30602556	2	2	431	1	0	0	0	0	0	0	0	1	9956	1799	63	3		3	MTPAP	10	30602556	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	24820254	30602556	104932191	72	36746											
ANK3	288	broad.mit.edu	37	chr10	61832503	61832503	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggaactgagtttagaTtgtttgagctggaatccaga	11	5	0	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:61832503T>C	ENST00000280772.2	-	37	8327	c.8136A>G	c.(8134-8136)caA>caG	p.Q2712Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2712					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						TGAGTTTAGATTGTTTGAGCT	0.453																																						ENST00000280772.1																			0				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						c.(8134-8136)caA>caG		ankyrin 3, node of Ranvier (ankyrin G)							115	114	114					10																	61832503		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832503T>C	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.8136A>G	10.37:g.61832503T>C						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.Q2712Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	8327	-			2712					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.8136A>G	CCDS7258.1																																																																																				0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	387	0	0	0	1	0	5	387					C	61832503	T	C	61832503	2	2	431	1	0	0	0	0	0	0	0	1	622	1490	52	3		3	ANK3	10	61832503	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	31229947	61832503	73702244	73	36747											
ANK3	288	broad.mit.edu	37	chr10	61835771	61835771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtagtcactggagaggttCgagaggaaaacgtagaattg	14	5	1	3	rs143606308		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:61835771C>T	ENST00000280772.2	-	37	5059	c.4868G>A	c.(4867-4869)cGa>cAa	p.R1623Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1623	Ser-rich.				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						TGGAGAGGTTCGAGAGGAAAA	0.478																																						ENST00000280772.1																			0				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						c.(4867-4869)cGa>cAa		ankyrin 3, node of Ranvier (ankyrin G)		C	,,,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	65	68	67		,,,4868	6	1	10	dbSNP_134	67	0,8600		0,0,4300	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,possibly-damaging	,,,1623/4378	61835771	2,13004	2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835771C>T	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.4868G>A	10.37:g.61835771C>T	ENSP00000280772:p.Arg1623Gln					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R1623Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	5059	-			1623			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4868G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496866	0.85069	4.54E-4	0.0	ENSG00000151150	ENST00000280772	T	0.74002	-0.8	5.98	5.98	0.97165	.	0.000000	0.34906	N	0.003599	D	0.85682	0.5753	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85283	0.1063	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1623	Q12955	ANK3_HUMAN	Q	1623	ENSP00000280772:R1623Q	ENSP00000280772:R1623Q	R	-	2	0	ANK3	61505777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.847000	0.97988	0.591000	0.81541	CGA		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		89	111	0	0	0	1	0	89	111					T	61835771	C	T	61835771	3	4	431	1	0	0	0	0	1	0	0	0	622	884	31	1	8606	1	ANK3	10	61835771	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	3268	61835771	73698976	74	36748											
PSAP	5660	broad.mit.edu	37	chr10	73580004	73580006	+	In_Frame_Del	DEL	TTG	TTG	-													gaggacagcatacctcagtcTtgttgttgtcaatcagcttg					rs546727182	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:73580004_73580006delTTG	ENST00000394936.3	-	9	1143_1145	c.996_998delCAA	c.(994-999)aacaag>aag	p.N332del	PSAP_ENST00000394934.1_In_Frame_Del_p.N334del			P07602	SAP_HUMAN	prosaposin	332	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				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						TACCTCAGTCTTGTTGTTGTCAA	0.557																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(994-999)aag>aa		prosaposin			,,	7,4257		2,3,2127					,,	2.3	0.2			234	15,8239		7,1,4119	no	coding,coding,coding	PSAP	NM_002778.2,NM_001042466.1,NM_001042465.1	,,	9,4,6246	A1A1,A1R,RR		0.1817,0.1642,0.1757	,,	,,		22,12496				SO:0001651	inframe_deletion	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73580004_73580006delTTG	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.996_998delCAA	10.37:g.73580010_73580012delTTG	ENSP00000378394:p.Asn332del					PSAP_ENST00000394934.1_In_Frame_Del_p.NK334del	p.NK332del			P07602	SAP_HUMAN			9	1143_1145	-			332			Saposin B-type 3.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	In_Frame_Del	DEL	ENST00000394936.3	37	c.996_998delCAA	CCDS7311.1																																																																																				0.557	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		11	178						11	178	---	---	---	---	-	73580006	TTG	-	73580004	7	5	431	1	0	1	0	1	0	0	0	0	12643	1609	56	0	600	0	PSAP	10	73580004	In_Frame_Del	DEL	TTG	TCGA-S9-A6WH-01A-12D-A33T-08	11744233	73580004	61954743	75	36749											
CYP2C9	1559	broad.mit.edu	37	chr10	96740964	96740964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccaggaagagattgaacGtgtgattggcagaaaccgga	14	6	0	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:96740964G>A	ENST00000260682.6	+	7	998	c.986G>A	c.(985-987)cGt>cAt	p.R329H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	329					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGATTGAACGTGTGATTGGC	0.463																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(985-987)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						155	140	145					10																	96740964		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96740964G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.986G>A	10.37:g.96740964G>A	ENSP00000260682:p.Arg329His						p.R329H	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	7	998	+		Colorectal(252;0.0902)	329					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.986G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	0.547	-0.851197	0.02651	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69926	-0.44	3.78	0.788	0.18601	.	0.896444	0.09409	U	0.806129	T	0.60470	0.2271	M	0.62266	1.93	0.09310	N	0.999999	B;B	0.18610	0.029;0.029	B;B	0.12837	0.008;0.008	T	0.49011	-0.8983	10	0.33940	T	0.23	.	8.291	0.31958	0.2727:0.0:0.7273:0.0	.	329;329	Q5VX92;P11712	.;CP2C9_HUMAN	H	329	ENSP00000260682:R329H	ENSP00000260682:R329H	R	+	2	0	CYP2C9	96730954	0.000000	0.05858	0.093000	0.20910	0.062000	0.15995	-2.912000	0.00698	0.061000	0.16311	-1.855000	0.00564	CGT		0.463	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		17	248	0	0	0	1	0	17	248					A	96740964	G	A	96740964	3	1	431	1	0	0	0	0	1	0	0	0	4168	1145	40	1	1012	1	CYP2C9	10	96740964	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	23160960	96740964	38793783	76	36750											
ARMS2	387715	broad.mit.edu	37	chr10	124214434	124214435	+	In_Frame_Ins	INS	-	-	CAT													aaactgtctttatcacactcINScatgatcccagctgctaaaa							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:124214434_124214435insCAT	ENST00000528446.1	+	1	266_267	c.191_192insCAT	c.(190-195)tccatg>tcCATcatg	p.64_65SM>SIM		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	64					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTATCACACTCCATGATCCCAG	0.54																																						ENST00000528446.1																			0				ovary(1)	1						c.(190-192)tat>tCATat		age-related maculopathy susceptibility 2																																				SO:0001652	inframe_insertion	387715				retina homeostasis	mitochondrion|photoreceptor inner segment		g.chr10:124214434_124214435insCAT	BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.192_194dupCAT	10.37:g.124214435_124214437dupCAT	ENSP00000436682:p.Ser64_Met65insIle						p.64_65insS	NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN			1	266_267	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	64					B2Y7I5	In_Frame_Ins	INS	ENST00000528446.1	37	c.191_192insCAT	CCDS53585.1																																																																																				0.54	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109727.2			84	97						84	97	---	---	---	---	CAT	124214435	-	CAT	124214434	7	5	431	1	0	1	1	0	0	0	0	0	964	855	30	0	193	0	ARMS2	10	124214434	In_Frame_Ins	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08	27473470	124214434	11320313	77	36751											
IKZF5	64376	broad.mit.edu	37	chr10	124758013	124758013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaaatgagtctacctccCtgaagagcctctgcttcttt	6	11	3	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:124758013C>T	ENST00000368886.5	-	3	449	c.129G>A	c.(127-129)caG>caA	p.Q43Q	IKZF5_ENST00000479103.1_5'UTR	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	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)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GTCTACCTCCCTGAAGAGCCT	0.413																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(127-129)caG>caA		IKAROS family zinc finger 5 (Pegasus)							96	92	93					10																	124758013		1886	4112	5998	SO:0001819	synonymous_variant	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124758013C>T	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	14283	protein-coding gene	gene with protein product		606238	"zinc finger protein, subfamily 1A, 5", "zinc finger protein, subfamily 1A, 5 (Pegasus)"	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.129G>A	10.37:g.124758013C>T						IKZF5_ENST00000479103.1_5'UTR	p.Q43Q	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	3	449	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	43					B3KVH7|D3DRE7|Q9H2T0	Silent	SNP	ENST00000368886.5	37	c.129G>A	CCDS41574.1																																																																																				0.413	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		4	152	0	0	0	1	0	4	152					T	124758013	C	T	124758013	2	4	431	1	0	0	0	0	0	0	0	1	7618	680	24	2		2	IKZF5	10	124758013	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	543579	124758013	10776734	78	36752											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718511	1718511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggaggctgtggctcCggctgtgggggctgtggctc	19	10	1	0	rs201204719	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:1718511C>T	ENST00000382160.1	+	1	87	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	12						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTGGCTCCGGCTGTGGGG	0.642													N|||	5	0.000998403	0.0008	0.0	5008	,	,		13667	0.0		0.0	False		,,,				2504	0.0041					ENST00000382160.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10						c.(34-36)tcC>tcT		keratin associated protein 5-6							64	82	76					11																	1718511		2200	4296	6496	SO:0001819	synonymous_variant	440023					keratin filament		g.chr11:1718511C>T	AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"Keratin associated proteins"	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.36C>T	11.37:g.1718511C>T							p.S12S	NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	87	+		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)	12					A1L452	Silent	SNP	ENST00000382160.1	37	c.36C>T	CCDS31332.1																																																																																				0.642	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102339.2			21	360	0	0	0	1	0	21	360					T	1718511	C	T	1718511	2	4	431	1	0	0	0	0	0	0	0	1	8565	639	23	1		1	KRTAP5-6	11	1718511	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		1718511	133288005	79	36753											
OR52I1	390037	broad.mit.edu	37	chr11	4615307	4615307	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccacacaatggaaaccccTgcctccttcctccttgtggg	7	16	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4615307T>C	ENST00000530443.2	+	1	39	c.39T>C	c.(37-39)ccT>ccC	p.P13P	OR52I1_ENST00000450052.2_Silent_p.P37P	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	13						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(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACCCCTGCCTCCTTCC	0.473																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(109-111)ccT>ccC		olfactory receptor, family 52, subfamily I, member 1							177	170	172					11																	4615307		2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615307T>C	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.39T>C	11.37:g.4615307T>C						OR52I1_ENST00000530443.2_Silent_p.P13P	p.P37P			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	111	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	13					Q6IF91	Silent	SNP	ENST00000530443.2	37	c.111T>C	CCDS59223.1																																																																																				0.473	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		68	330	0	0	0	1	0	68	330					C	4615307	T	C	4615307	2	2	431	1	0	0	0	0	0	0	0	1	11120	1567	55	3		3	OR52I1	11	4615307	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	2896796	4615307	130391209	80	36754											
OR51T1	401665	broad.mit.edu	37	chr11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagaccaagacaatccGccaggctatgttccagctgc	9	13	0	3	rs151076376	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4904034G>A	ENST00000322049.1	+	1	905	c.905G>A	c.(904-906)cGc>cAc	p.R302H	OR51T1_ENST00000380378.1_Missense_Mutation_p.R329H|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483																																						ENST00000380378.1																			2	Substitution - Missense(2)	p.R302L(1)|p.R329L(1)	lung(2)	NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(985-987)cGc>cAc		olfactory receptor, family 51, subfamily T, member 1		G	HIS/ARG	0,4402		0,0,2201	93	88	90		986	4	0.9	11	dbSNP_134	90	5,8591	4.3+/-15.6	0,5,4293	yes	missense	OR51T1	NM_001004759.1	29	0,5,6494	AA,AG,GG		0.0582,0.0,0.0385	benign	329/355	4904034	5,12993	2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904034G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.905G>A	11.37:g.4904034G>A	ENSP00000322679:p.Arg302His					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R302H	p.R329H	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	302					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923538	0.52653	0.0	5.82E-4	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.58358	0.34;0.34	4.97	4.04	0.47022	.	0.322556	0.22730	N	0.056338	T	0.32734	0.0839	N	0.08118	0	0.39490	D	0.968038	B	0.18968	0.032	B	0.12156	0.007	T	0.30001	-0.9993	10	0.72032	D	0.01	.	12.5266	0.56089	0.0833:0.0:0.9167:0.0	.	302	Q8NGJ9	O51T1_HUMAN	H	329;302	ENSP00000369738:R329H;ENSP00000322679:R302H	ENSP00000322679:R302H	R	+	2	0	OR51T1	4860610	0.001000	0.12720	0.947000	0.38551	0.992000	0.81027	0.506000	0.22658	2.595000	0.87683	0.491000	0.48974	CGC		0.483	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		11	189	0	0	0	1	0	11	189					A	4904034	G	A	4904034	3	1	431	1	0	0	0	0	1	0	0	0	11106	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	288727	4904034	130102482	81	36755											
DGKZ	8525	broad.mit.edu	37	chr11	46391072	46391072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtaagccgtccttccGtgaatcaggctccaggaatg	11	13	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:46391072G>A	ENST00000454345.1	+	6	1162	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	DGKZ_ENST00000532868.2_Missense_Mutation_p.R162H|DGKZ_ENST00000318201.8_Missense_Mutation_p.R158H|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.R158H|DGKZ_ENST00000527911.1_Missense_Mutation_p.R158H|DGKZ_ENST00000395574.3_Missense_Mutation_p.R124H|DGKZ_ENST00000456247.2_Missense_Mutation_p.R157H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R174H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	346					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCGTCCTTCCGTGAATCAGGC	0.572											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(1036-1038)cGt>cAt		diacylglycerol kinase, zeta							113	109	110					11																	46391072		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46391072G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1037G>A	11.37:g.46391072G>A	ENSP00000412178:p.Arg346His		OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	DGKZ_ENST00000318201.8_Missense_Mutation_p.R158H|DGKZ_ENST00000395574.3_Missense_Mutation_p.R124H|DGKZ_ENST00000421244.2_Missense_Mutation_p.R158H|DGKZ_ENST00000456247.2_Missense_Mutation_p.R157H|DGKZ_ENST00000343674.6_Missense_Mutation_p.R174H|DGKZ_ENST00000532868.2_Missense_Mutation_p.R162H|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.R158H	p.R346H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	6	1162	+			346					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1037G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532483	0.85812	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	T;T;T;T;T;T;T;T;T	0.25912	2.33;2.52;2.58;3.51;2.33;2.4;2.44;1.77;2.6	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.56396	1.775	0.80722	D	1	D;P;D;D;P;D;D;D;P	0.89917	0.981;0.955;1.0;1.0;0.953;0.973;1.0;1.0;0.955	B;B;D;D;B;P;D;D;B	0.76575	0.431;0.332;0.973;0.973;0.425;0.476;0.988;0.973;0.332	T	0.51220	-0.8733	10	0.62326	D	0.03	.	17.5453	0.87859	0.0:0.0:1.0:0.0	.	158;123;124;158;346;157;158;124;174	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	H	174;124;123;158;157;158;158;346;42	ENSP00000343065:R174H;ENSP00000378941:R124H;ENSP00000436273:R123H;ENSP00000436291:R158H;ENSP00000395684:R157H;ENSP00000391021:R158H;ENSP00000320340:R158H;ENSP00000412178:R346H;ENSP00000435763:R42H	ENSP00000320340:R158H	R	+	2	0	DGKZ	46347648	1.000000	0.71417	0.977000	0.42913	0.675000	0.39556	9.618000	0.98365	2.212000	0.71576	0.561000	0.74099	CGT		0.572	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		4	199	0	0	0	1	0	4	199					A	46391072	G	A	46391072	3	1	431	1	0	0	0	0	1	0	0	0	4474	1145	40	1	1502	1	DGKZ	11	46391072	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	41487038	46391072	88615444	82	36756											
DYNC2H1	79659	broad.mit.edu	37	chr11	103052532	103052532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaatcttggttgaggAatcagcctgctgaatataga	10	5	2	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:103052532A>T	ENST00000375735.2	+	40	6538	c.6394A>T	c.(6394-6396)Aat>Tat	p.N2132Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2132	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGGTTGAGGAATCAGCCTGC	0.289																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(6394-6396)Aat>Tat		dynein, cytoplasmic 2, heavy chain 1							28	28	28					11																	103052532		1785	4033	5818	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103052532A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6394A>T	11.37:g.103052532A>T	ENSP00000364887:p.Asn2132Tyr					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y	p.N2132Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	40	6538	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2132			AAA 2 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6394A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530740	0.45073	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.25749	1.78;1.78	5.42	5.42	0.78866	.	.	.	.	.	T	0.24509	0.0594	L	0.54323	1.7	0.29903	N	0.824199	B;P	0.44044	0.267;0.825	B;B	0.37304	0.093;0.246	T	0.31447	-0.9943	9	0.72032	D	0.01	.	9.9076	0.41386	0.9238:0.0:0.0762:0.0	.	2132;2132	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	2132	ENSP00000364887:N2132Y;ENSP00000381167:N2132Y	ENSP00000364887:N2132Y	N	+	1	0	DYNC2H1	102557742	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.940000	0.56599	2.070000	0.61991	0.477000	0.44152	AAT		0.289	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	14	0	0	0	1	0	7	14					T	103052532	A	T	103052532	3	4	431	1	0	0	0	0	1	0	0	0	4846	246	9	5	6552	5	DYNC2H1	11	103052532	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	56661460	103052532	31953984	83	36757											
EXPH5	23086	broad.mit.edu	37	chr11	108384958	108384958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcatttaaactaacacGttggtaaacattctgtgaat	9	6	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:108384958G>A	ENST00000265843.4	-	6	1386	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C|EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	426					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)	p.R426C(1)		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)		AAACTAACACGTTGGTAAACA	0.413																																						ENST00000265843.4																			1	Substitution - Missense(1)	p.R426C(1)	large_intestine(1)	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						c.(1276-1278)Cgt>Tgt		exophilin 5							147	147	147					11																	108384958		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384958G>A		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.1276C>T	11.37:g.108384958G>A	ENSP00000265843:p.Arg426Cys					EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C|EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C	p.R426C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	6	1386	-		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)	426					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1276C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220915	0.22457	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04360	4.22;4.15;4.0;4.22;4.07;3.64	5.66	2.12	0.27331	.	0.642064	0.15822	N	0.242924	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	D	0.61697	0.99	P	0.47744	0.556	T	0.38607	-0.9653	10	0.62326	D	0.03	-0.7619	5.0948	0.14727	0.0:0.1639:0.1628:0.6733	.	426	Q8NEV8	EXPH5_HUMAN	C	426;350;238;419;270;350;238	ENSP00000265843:R426C;ENSP00000391966:R350C;ENSP00000411390:R238C;ENSP00000432546:R419C;ENSP00000432683:R350C;ENSP00000446434:R238C	ENSP00000265843:R426C	R	-	1	0	EXPH5	107890168	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.132000	0.15891	0.116000	0.18110	-0.479000	0.04858	CGT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		8	377	0	0	0	1	0	8	377					A	108384958	G	A	108384958	3	1	431	1	0	0	0	0	1	0	0	0	5322	1145	40	1	4697	1	EXPH5	11	108384958	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	5332426	108384958	26621558	84	36758											
SORL1	6653	broad.mit.edu	37	chr11	121414352	121414352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagaacctggggagaagaGcactgtcttcaccatctttg	10	11	3	3	rs368569394		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:121414352G>A	ENST00000260197.7	+	13	1910	c.1781G>A	c.(1780-1782)aGc>aAc	p.S594N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	594					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)		GGGGAGAAGAGCACTGTCTTC	0.517																																						ENST00000260197.7																			0				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						c.(1780-1782)aGc>aAc		sortilin-related receptor, L(DLR class) A repeats containing							192	169	177					11																	121414352		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121414352G>A	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.1781G>A	11.37:g.121414352G>A	ENSP00000260197:p.Ser594Asn					SORL1_ENST00000532451.1_3'UTR	p.S594N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	13	1910	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	594					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1781G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380231	0.95945	.	.	ENSG00000137642	ENST00000260197	T	0.41065	1.01	5.8	5.8	0.92144	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.63892	-0.6534	10	0.72032	D	0.01	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	594	Q92673	SORL_HUMAN	N	594	ENSP00000260197:S594N	ENSP00000260197:S594N	S	+	2	0	SORL1	120919562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.567000	0.98161	2.735000	0.93741	0.655000	0.94253	AGC		0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		28	274	0	0	0	1	0	28	274					A	121414352	G	A	121414352	3	1	431	1	0	0	0	0	1	0	0	0	14934	971	34	2	1831	2	SORL1	11	121414352	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	13029394	121414352	13592164	85	36759											
SLC6A13	6540	broad.mit.edu	37	chr12	330125	330125	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccccctagcagtgagActctagctctgtgagtctga	11	13	3	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:330125A>T	ENST00000343164.4	-	15	1850	c.1798T>A	c.(1798-1800)Tct>Act	p.S600T	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	600					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)			TAGCAGTGAGACTCTAGCTCT	0.662																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1798-1800)Tct>Act		solute carrier family 6 (neurotransmitter transporter), member 13							63	55	58					12																	330125		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330125A>T	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.1798T>A	12.37:g.330125A>T	ENSP00000339260:p.Ser600Thr					SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T	p.S600T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1850	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		600					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1798T>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	1.387	-0.581913	0.03827	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73897	-0.75;-0.79	4.15	1.76	0.24704	.	1.605550	0.03670	U	0.243790	T	0.45637	0.1352	N	0.02916	-0.46	0.35997	D	0.837137	P;B;B	0.36465	0.554;0.002;0.001	B;B;B	0.32393	0.145;0.003;0.001	T	0.55541	-0.8125	10	0.02654	T	1	.	7.144	0.25573	0.8175:0.0:0.1825:0.0	.	508;579;600	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	T	508;579;600	ENSP00000407104:S508T;ENSP00000339260:S600T	ENSP00000318097:S579T	S	-	1	0	SLC6A13	200386	1.000000	0.71417	0.586000	0.28679	0.440000	0.31957	2.966000	0.49208	0.194000	0.20326	0.368000	0.22195	TCT		0.662	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		6	48	0	0	0	1	0	6	48					T	330125	A	T	330125	3	4	431	1	0	0	0	0	1	0	0	0	14676	275	10	5	14	5	SLC6A13	12	330125	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		330125	133521770	86	36760											
VDR	7421	broad.mit.edu	37	chr12	48272841	48272841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagatccggggcacgTtccggtcaaagtctccaggg	12	15	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:48272841T>C	ENST00000395324.2	-	3	324	c.56A>G	c.(55-57)aAc>aGc	p.N19S	VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000229022.3_Missense_Mutation_p.N19S			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	19					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGGGGCACGTTCCGGTCAAA	0.587																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(55-57)aAc>aGc		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						107	89	95					12																	48272841		2203	4300	6503	SO:0001583	missense	0				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48272841T>C	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.56A>G	12.37:g.48272841T>C	ENSP00000378734:p.Asn19Ser					VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000395324.2_Missense_Mutation_p.N19S|VDR_ENST00000535672.1_5'UTR	p.N19S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	4	337	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	19					B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.56A>G	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.270137	0.40194	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.93763	-3.16;-3.16;-3.16;-3.15;-2.74;-3.28;-3.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.41027	1.25	0.80722	D	1	B;B	0.32467	0.017;0.372	B;B	0.33196	0.009;0.159	D	0.87671	0.2541	10	0.27082	T	0.32	.	14.5878	0.68339	0.0:0.0:0.0:1.0	.	19;69	P11473;G3V1V9	VDR_HUMAN;.	S	19;19;19;69;19;19;19	ENSP00000378734:N19S;ENSP00000229022:N19S;ENSP00000449573:N19S;ENSP00000447173:N69S;ENSP00000448659:N19S;ENSP00000449561:N19S;ENSP00000450105:N19S	ENSP00000229022:N19S	N	-	2	0	VDR	46559108	1.000000	0.71417	0.881000	0.34555	0.815000	0.46073	4.956000	0.63645	2.126000	0.65437	0.533000	0.62120	AAC		0.587	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			13	106	0	0	0	1	0	13	106					C	48272841	T	C	48272841	3	2	431	1	0	0	0	0	1	0	0	0	17146	1725	60	3	1259	3	VDR	12	48272841	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	47942716	48272841	85579054	87	36761											
SLC17A8	246213	broad.mit.edu	37	chr12	100813689	100813689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcttctggggagaaacagGagtgggctgacccagagaat	15	7	1	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:100813689G>A	ENST00000323346.5	+	12	1835	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	508					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						GGAGAAACAGGAGTGGGCTGA	0.483																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1522-1524)Gag>Aag		solute carrier family 17 (vesicular glutamate transporter), member 8							68	75	72					12																	100813689		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100813689G>A	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.1522G>A	12.37:g.100813689G>A	ENSP00000316909:p.Glu508Lys					SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K|SLC17A8_ENST00000552697.1_3'UTR	p.E508K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			12	1835	+			508					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1522G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852472	0.71719	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69040	0.01;-0.37	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.306097	0.35067	N	0.003463	T	0.50548	0.1622	N	0.10809	0.05	0.48185	D	0.999604	B;P	0.35033	0.0;0.481	B;B	0.32465	0.002;0.146	T	0.56625	-0.7948	10	0.51188	T	0.08	.	19.0814	0.93185	0.0:0.0:1.0:0.0	.	508;458	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	508;458	ENSP00000316909:E508K;ENSP00000376715:E458K	ENSP00000316909:E508K	E	+	1	0	SLC17A8	99337820	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.735000	0.62051	2.579000	0.87056	0.591000	0.81541	GAG		0.483	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		4	107	0	0	0	1	0	4	107					A	100813689	G	A	100813689	3	1	431	1	0	0	0	0	1	0	0	0	14423	1175	41	2	1568	2	SLC17A8	12	100813689	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	52540848	100813689	33038206	88	36762											
NOS1	4842	broad.mit.edu	37	chr12	117662871	117662871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaagcttcggaaagggGcaatgccggtgcctggtcca	15	11	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:117662871G>A	ENST00000338101.4	-	25	3882	c.3878C>T	c.(3877-3879)gCc>gTc	p.A1293V	NOS1_ENST00000317775.6_Missense_Mutation_p.A1259V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCGGAAAGGGGCAATGCCGGT	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3775-3777)gCc>gTc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						120	133	129					12																	117662871		1945	4141	6086	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662871G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3878C>T	12.37:g.117662871G>A	ENSP00000337459:p.Ala1293Val					NOS1_ENST00000338101.4_Missense_Mutation_p.A1293V|NOS1_ENST00000344089.3_3'UTR	p.A1259V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4461	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1259						Missense_Mutation	SNP	ENST00000338101.4	37	c.3776C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368248	0.95900	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.87966	-2.32;-2.32	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.87932	D	0	-39.1941	18.3244	0.90248	0.0:0.0:1.0:0.0	.	1259	P29475	NOS1_HUMAN	V	1154;1259;1293	ENSP00000320758:A1259V;ENSP00000337459:A1293V	ENSP00000320758:A1259V	A	-	2	0	NOS1	116147254	1.000000	0.71417	0.738000	0.30950	0.870000	0.49936	9.629000	0.98417	2.555000	0.86185	0.561000	0.74099	GCC		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			5	336	0	0	0	1	0	5	336					A	117662871	G	A	117662871	3	1	431	1	0	0	0	0	1	0	0	0	10541	1203	42	2	548	2	NOS1	12	117662871	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	16849182	117662871	16189024	89	36763											
SERP2	387923	broad.mit.edu	37	chr13	44953804	44953804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggagaaatatcctgtgGgaccatggctgttggcactg	14	7	0	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:44953804G>A	ENST00000379179.3	+	2	296	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		ATATCCTGTGGGACCATGGCT	0.413																																						ENST00000379179.3																			0				large_intestine(1)	1						c.(112-114)Gga>Aga		stress-associated endoplasmic reticulum protein family member 2							280	240	253					13																	44953804		2203	4300	6503	SO:0001583	missense	387923				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr13:44953804G>A	BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 21"	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.112G>A	13.37:g.44953804G>A	ENSP00000368477:p.Gly38Arg						p.G38R	NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)	2	296	+		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	38						Missense_Mutation	SNP	ENST00000379179.3	37	c.112G>A	CCDS31965.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868202	0.91587	.	.	ENSG00000151778	ENST00000379179	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.81536	-0.0888	8	0.87932	D	0	.	16.7844	0.85570	0.0:0.0:1.0:0.0	.	38	Q8N6R1	SERP2_HUMAN	R	38	.	ENSP00000368477:G38R	G	+	1	0	SERP2	43851804	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.176000	0.89686	2.819000	0.97034	0.585000	0.79938	GGA		0.413	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044736.1	NM_001010897		17	175	0	0	0	1	0	17	175					A	44953804	G	A	44953804	3	1	431	1	0	0	0	0	1	0	0	0	14085	1233	43	2	118	2	SERP2	13	44953804	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		44953804	70216074	90	36764											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281360	49281360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtgctgagtgttgtgcGtttcctggcaatggttcacc	13	10	1	1	rs201503697		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:49281360G>A	ENST00000282018.3	+	1	410	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	136					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.R136H(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGTGTTGTGCGTTTCCTGGCA	0.473																																						ENST00000282018.3																			1	Substitution - Missense(1)	p.R136H(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(406-408)cGt>cAt		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)	G	HIS/ARG	0,4406		0,0,2203	224	214	217		407	6.1	1	13		217	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYSLTR2	NM_020377.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	136/347	49281360	1,13005	2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281360G>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.407G>A	13.37:g.49281360G>A	ENSP00000282018:p.Arg136His						p.R136H	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	410	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	136					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.407G>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482943	0.96307	0.0	1.16E-4	ENSG00000152207	ENST00000282018	D	0.97161	-4.27	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.99121	0.9697	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99078	1.0836	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	136	Q9NS75	CLTR2_HUMAN	H	136	ENSP00000282018:R136H	ENSP00000282018:R136H	R	+	2	0	CYSLTR2	48179361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	2.894000	0.99253	0.655000	0.94253	CGT		0.473	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			5	389	0	0	0	1	0	5	389					A	49281360	G	A	49281360	3	1	431	1	0	0	0	0	1	0	0	0	4202	1145	40	1	409	1	CYSLTR2	13	49281360	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	4327556	49281360	65888518	91	36765											
THSD1	55901	broad.mit.edu	37	chr13	52972267	52972267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatccacatacactgTgtcgttgcttagtgctacat	8	10	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:52972267T>C	ENST00000258613.4	-	3	299	c.121A>G	c.(121-123)Aca>Gca	p.T41A	THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000349258.4_Missense_Mutation_p.T41A	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	41					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACATACACTGTGTCGTTGCTT	0.438																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(121-123)Aca>Gca		thrombospondin, type I, domain containing 1							134	112	120					13																	52972267		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52972267T>C	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.121A>G	13.37:g.52972267T>C	ENSP00000258613:p.Thr41Ala					THSD1_ENST00000258613.4_Missense_Mutation_p.T41A|THSD1_ENST00000544466.1_Intron	p.T41A	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	665	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	41					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.121A>G	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731795	0.30684	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.19250	2.16;2.32	5.87	3.38	0.38709	.	0.259066	0.39083	N	0.001464	T	0.24624	0.0597	M	0.72118	2.19	0.26454	N	0.975556	P;P	0.43314	0.802;0.803	B;B	0.42495	0.389;0.338	T	0.15407	-1.0438	10	0.66056	D	0.02	-9.6369	6.9071	0.24315	0.2632:0.0:0.1375:0.5993	.	41;41	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	A	41	ENSP00000340650:T41A;ENSP00000258613:T41A	ENSP00000258613:T41A	T	-	1	0	THSD1	51870268	0.998000	0.40836	0.003000	0.11579	0.033000	0.12548	3.047000	0.49854	0.448000	0.26722	-0.336000	0.08194	ACA		0.438	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			27	216	0	0	0	1	0	27	216					C	52972267	T	C	52972267	3	2	431	1	0	0	0	0	1	0	0	0	15874	1696	59	3	2449	3	THSD1	13	52972267	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	3690907	52972267	62197611	92	36766											
CRIP2	1397	broad.mit.edu	37	chr14	105945493	105945493	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtctctgggcaaggattgGcaccggccctgcctgcgctg	14	14	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr14:105945493G>A	ENST00000329146.4	+	6	1151	c.438G>A	c.(436-438)tgG>tgA	p.W146*	CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	146	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGATTGGCACCGGCCCT	0.766																																						ENST00000329146.4																			0				lung(2)	2						c.(436-438)tgG>tgA		cysteine-rich protein 2							18	21	20					14																	105945493		2153	4221	6374	SO:0001587	stop_gained	1397						zinc ion binding	g.chr14:105945493G>A		CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.438G>A	14.37:g.105945493G>A	ENSP00000328521:p.Trp146*					CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*|CRIP2_ENST00000548989.1_3'UTR	p.W146*	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)	6	1151	+		Melanoma(154;0.226)	146			LIM zinc-binding 2.		A1A4U1|B7Z6C0|E9PD13	Nonsense_Mutation	SNP	ENST00000329146.4	37	c.438G>A	CCDS10003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	43|43	10.058886|10.058886	0.99327|0.99327	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000550577;ENST00000538259|ENST00000483017;ENST00000329146	.|.	.|.	.|.	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.000000	.|0.45361	.|U	.|0.000371	T|.	0.33962|.	0.0881|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33879|.	-0.9851|.	3|.	.|0.02654	.|T	.|1	-0.4138|-0.4138	14.2005|14.2005	0.65699|0.65699	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	42;130|220;146	.|.	.|ENSP00000328521:W146X	A|W	+|+	1|3	0|0	CRIP2|CRIP2	105016538|105016538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.297000|9.297000	0.96120|0.96120	1.902000|1.902000	0.55061|0.55061	0.282000|0.282000	0.19409|0.19409	GCA|TGG		0.766	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074597.3	NM_001312		3	35	0	0	0	1	0	3	35					A	105945493	G	A	105945493	4	1	431	1	0	0	0	0	0	1	0	0	3875	1212	42	2	460	2	CRIP2	14	105945493	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		105945493	1404047	93	36767											
SPTBN5	51332	broad.mit.edu	37	chr15	42180130	42180130	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagggtggggtcacacctgtGggcatggatgagggcattga	18	6	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42180130G>C	ENST00000320955.6	-	5	882	c.655C>G	c.(655-657)Cac>Gac	p.H219D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	219	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		TCACACCTGTGGGCATGGATG	0.602																																						ENST00000320955.6																			0				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						c.(655-657)Cac>Gac		spectrin, beta, non-erythrocytic 5							34	36	36					15																	42180130		2028	4172	6200	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42180130G>C	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.655C>G	15.37:g.42180130G>C	ENSP00000317790:p.His219Asp						p.H219D	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	5	882	-		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)	219			Actin-binding.|CH 2.			Missense_Mutation	SNP	ENST00000320955.6	37	c.655C>G		.	.	.	.	.	.	.	.	.	.	G	21.7	4.186789	0.78789	.	.	ENSG00000137877	ENST00000320955	D	0.95035	-3.59	3.96	3.96	0.45880	Calponin homology domain (5);	0.183014	0.33553	N	0.004787	D	0.98118	0.9379	H	0.97315	3.98	0.51233	D	0.999918	D	0.76494	0.999	D	0.73708	0.981	D	0.99120	1.0849	10	0.87932	D	0	.	14.0002	0.64429	0.0:0.0:1.0:0.0	.	219	Q9NRC6	SPTN5_HUMAN	D	219	ENSP00000317790:H219D	ENSP00000317790:H219D	H	-	1	0	SPTBN5	39967422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.413000	0.90235	2.020000	0.59435	0.563000	0.77884	CAC		0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	22	0	0	0	1	0	7	22					C	42180130	G	C	42180130	3	2	431	1	0	0	0	0	1	0	0	0	15121	1348	47	4	10625	4	SPTBN5	15	42180130	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		42180130	60351262	94	36768											
PLA2G4F	255189	broad.mit.edu	37	chr15	42438416	42438416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggaccgcctcctgttgGtcagacagcttggcagggtt	15	11	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42438416G>A	ENST00000382396.4	-	14	1529	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PLA2G4F_ENST00000397272.3_Silent_p.D483D			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	481	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				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)		CCTCCTGTTGGTCAGACAGCT	0.612																																						ENST00000397272.3																			0				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						c.(1447-1449)gaC>gaT		phospholipase A2, group IVF							70	66	67					15																	42438416		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42438416G>A		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.1443C>T	15.37:g.42438416G>A						PLA2G4F_ENST00000382396.4_Silent_p.D481D	p.D483D	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	14	1540	-		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)	481			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1449C>T	CCDS32204.1																																																																																				0.612	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		5	104	0	0	0	1	0	5	104					A	42438416	G	A	42438416	2	1	431	1	0	0	0	0	0	0	0	1	12006	1252	44	2		2	PLA2G4F	15	42438416	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	258286	42438416	60092976	95	36769											
MAP1A	4130	broad.mit.edu	37	chr15	43822061	43822061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggcccagtggggggagaAtcttcaggtgagtagcaaag	16	7	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:43822061A>G	ENST00000300231.5	+	5	8699	c.8249A>G	c.(8248-8250)aAt>aGt	p.N2750S	MAP1A_ENST00000382031.1_Missense_Mutation_p.N2988S|MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2750					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)	TGGGGGGAGAATCTTCAGGTG	0.557																																						ENST00000382031.1																			0				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						c.(8962-8964)aAt>aGt		microtubule-associated protein 1A	Estramustine(DB01196)						38	41	40					15																	43822061		2081	4217	6298	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43822061A>G	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.8249A>G	15.37:g.43822061A>G	ENSP00000300231:p.Asn2750Ser					MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S|MAP1A_ENST00000300231.5_Missense_Mutation_p.N2750S	p.N2988S			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	6	8994	+		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)	2750					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.8963A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786345	0.49997	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02067	4.47;4.58;4.47	5.17	5.17	0.71159	.	.	.	.	.	T	0.10337	0.0253	M	0.63428	1.95	0.45621	D	0.998552	D	0.76494	0.999	D	0.69654	0.965	T	0.00681	-1.1612	9	0.72032	D	0.01	-16.4327	15.1864	0.73006	1.0:0.0:0.0:0.0	.	2750	P78559	MAP1A_HUMAN	S	2988;2750;2750	ENSP00000371462:N2988S;ENSP00000382380:N2750S;ENSP00000300231:N2750S	ENSP00000300231:N2750S	N	+	2	0	MAP1A	41609353	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.139000	0.94554	2.176000	0.68965	0.379000	0.24179	AAT		0.557	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	69	0	0	0	1	0	5	69					G	43822061	A	G	43822061	3	3	431	1	0	0	0	0	1	0	0	0	9227	101	4	3	8255	3	MAP1A	15	43822061	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	1383645	43822061	58709331	96	36770											
CEP152	22995	broad.mit.edu	37	chr15	49097830	49097830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactggtagtgccacactgCcaaagtctaatgacatggtc	10	11	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:49097830C>T	ENST00000380950.2	-	2	204	c.17G>A	c.(16-18)gGc>gAc	p.G6D	CEP152_ENST00000325747.5_Missense_Mutation_p.G6D|CEP152_ENST00000399334.3_Missense_Mutation_p.G6D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	6					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)		TGCCACACTGCCAAAGTCTAA	0.398																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(16-18)gGc>gAc		centrosomal protein 152kDa							136	126	129					15																	49097830		1849	4100	5949	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49097830C>T	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.17G>A	15.37:g.49097830C>T	ENSP00000370337:p.Gly6Asp					CEP152_ENST00000399334.3_Missense_Mutation_p.G6D|CEP152_ENST00000325747.5_Missense_Mutation_p.G6D	p.G6D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	2	204	-		all_lung(180;0.0428)	6					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.17G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756997	0.31137	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.40476	1.18;1.03;1.23	5.02	5.02	0.67125	.	0.054399	0.64402	D	0.000001	T	0.22205	0.0535	L	0.29908	0.895	0.28402	N	0.918582	B;P;P	0.40619	0.233;0.724;0.724	B;B;B	0.36845	0.038;0.234;0.234	T	0.21861	-1.0233	10	0.05833	T	0.94	-11.8808	5.9752	0.19375	0.0:0.778:0.0:0.222	.	6;6;6	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	6	ENSP00000370337:G6D;ENSP00000321000:G6D;ENSP00000382271:G6D	ENSP00000321000:G6D	G	-	2	0	CEP152	46885122	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.068000	0.57534	2.606000	0.88127	0.591000	0.81541	GGC		0.398	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		7	144	0	0	0	1	0	7	144					T	49097830	C	T	49097830	3	4	431	1	0	0	0	0	1	0	0	0	3248	739	26	2	5047	2	CEP152	15	49097830	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	5275769	49097830	53433562	97	36771											
RFX7	64864	broad.mit.edu	37	chr15	56387780	56387780	+	Frame_Shift_Del	DEL	T	T	-													gacatttactgataccttgcTaggaatctgagcacctgctg							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:56387780delT	ENST00000559447.2	-	9	2126	c.1855delA	c.(1855-1857)agcfs	p.S619fs	RFX7_ENST00000423270.1_Frame_Shift_Del_p.S716fs|RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	619					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATACCTTGCTAGGAATCTGA	0.438																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2146-2148)gcfs		regulatory factor X, 7							115	105	108					15																	56387780		1929	4133	6062	SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387780delT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1855delA	15.37:g.56387780delT	ENSP00000453281:p.Ser619fs					RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs|RFX7_ENST00000559447.2_Frame_Shift_Del_p.S619fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs	p.S716fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2145	-			619					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Del	DEL	ENST00000559447.2	37	c.2146delA																																																																																					0.438	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		34	119						34	119	---	---	---	---	-	56387780	T	-	56387780	7	5	431	1	0	1	0	1	0	0	0	0	13268	1522	53	0	2240	0	RFX7	15	56387780	Frame_Shift_Del	DEL	T	TCGA-S9-A6WH-01A-12D-A33T-08	7289950	56387780	46143612	98	36772											
TCF12	6938	broad.mit.edu	37	chr15	57523426	57523427	+	Frame_Shift_Ins	INS	-	-	T													tctcctaagccaccaaccagINStatgttcgctagcactttct							TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:57523426_57523427insT	ENST00000267811.5	+	9	960_961	c.656_657insT	c.(655-660)agtatgfs	p.M220fs	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V30fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.M216fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.M220fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	220					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCACCAACCAGTATGTTCGCTA	0.366			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(655-657)aatfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57523426_57523427insT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.657dupT	15.37:g.57523427_57523427dupT	ENSP00000267811:p.Met220fs					TCF12_ENST00000543579.1_Frame_Shift_Ins_p.N49fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.N49fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.N219fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.N219fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.N215fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.M30fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.N219fs	p.N219fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	9	960_961	+		Colorectal(260;0.0907)	219					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.656_657insT	CCDS10159.1																																																																																				0.366	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		45	233						45	233	---	---	---	---	T	57523427	-	T	57523426	7	5	431	1	0	1	1	0	0	0	0	0	15684	1029	36	0	759	0	TCF12	15	57523426	Frame_Shift_Ins	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08	1135646	57523426	45007966	99	36773											
MSLNL	401827	broad.mit.edu	37	chr16	830602	830602	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggatgcgtgcaggcaCgcatgtgtaggtgacagtgt	16	7	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:830602C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.A133A			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGTGCAGGCACGCATGTGTAG	0.557																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(397-399)gcG>gcA		mesothelin-like							305	261	276					16																	830602		2181	4268	6449	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830602C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-440G>A	16.37:g.830602C>T						MSLNL_ENST00000442466.1_Intron	p.A133A			Q96KJ4	MSLNL_HUMAN			3	398	-			0						Silent	SNP	ENST00000442466.1	37	c.399G>A																																																																																					0.557	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		7	466	0	0	0	1	0	7	466					T	830602	C	T	830602	1	4	431	0	1	0	0	0	0	0	0	0	9882	523	19	1		1	MSLNL	16	830602	Intron	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		830602	89524151	100	36774											
BAIAP3	8938	broad.mit.edu	37	chr16	1395342	1395342	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggaccaggccaagtGgaggcttcagggagccgtgg	19	9	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:1395342G>A	ENST00000324385.5	+	22	2296	c.2138G>A	c.(2137-2139)tGg>tAg	p.W713*	BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	713	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)				CAGGCCAAGTGGAGGCTTCAG	0.682																																						ENST00000324385.5																			0				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						c.(2137-2139)tGg>tAg		BAI1-associated protein 3							50	43	46					16																	1395342		2198	4300	6498	SO:0001587	stop_gained	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1395342G>A	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.2138G>A	16.37:g.1395342G>A	ENSP00000324510:p.Trp713*					BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650*	p.W713*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			22	2296	+		Hepatocellular(780;0.0893)	713			MHD1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonsense_Mutation	SNP	ENST00000324385.5	37	c.2138G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242447	0.95272	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.7	0.559	0.17272	.	0.944188	0.08982	N	0.865598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-5.2147	1.7974	0.03064	0.1155:0.2499:0.4009:0.2336	.	.	.	.	X	678;695;713;695;642	.	ENSP00000324510:W713X	W	+	2	0	BAIAP3	1335343	0.571000	0.26659	0.912000	0.35992	0.308000	0.27856	1.110000	0.31147	0.763000	0.33175	0.436000	0.28706	TGG		0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			5	81	0	0	0	1	0	5	81					A	1395342	G	A	1395342	4	1	431	1	0	0	0	0	0	1	0	0	1304	1357	47	2	2224	2	BAIAP3	16	1395342	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	564740	1395342	88959411	101	36775											
SCNN1B	6338	broad.mit.edu	37	chr16	23392080	23392080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccctgcgtctgcagccGctggacgtcatcgagtctga	12	14	3	1	rs369141410		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:23392080G>A	ENST00000343070.2	+	13	2057	c.1881G>A	c.(1879-1881)ccG>ccA	p.P627P	SCNN1B_ENST00000568923.1_Silent_p.P600P|SCNN1B_ENST00000568085.1_Silent_p.P591P|SCNN1B_ENST00000307331.5_Silent_p.P672P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	627					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)	GTCTGCAGCCGCTGGACGTCA	0.677																																						ENST00000343070.2																			0				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						c.(1879-1881)ccG>ccA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)	G		0,4274		0,0,2137	42	47	45		1881	-9.7	0.6	16		45	2,8446		0,2,4222	no	coding-synonymous	SCNN1B	NM_000336.2		0,2,6359	AA,AG,GG		0.0237,0.0,0.0157		627/641	23392080	2,12720	2137	4224	6361	SO:0001819	synonymous_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23392080G>A	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.1881G>A	16.37:g.23392080G>A						SCNN1B_ENST00000307331.5_Silent_p.P672P|SCNN1B_ENST00000568923.1_Silent_p.P600P|SCNN1B_ENST00000568085.1_Silent_p.P591P	p.P627P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	2057	+			627					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1881G>A	CCDS10609.1																																																																																				0.677	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			14	225	0	0	0	1	0	14	225					A	23392080	G	A	23392080	2	1	431	1	0	0	0	0	0	0	0	1	13928	1074	38	1		1	SCNN1B	16	23392080	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	21996738	23392080	66962673	102	36776											
SULT1A2	6799	broad.mit.edu	37	chr16	28606983	28606983	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcatgtccagaatctggctCacccaggtggtgcctggaga	12	11	3	2	rs559578354	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:28606983C>T	ENST00000395630.1	-	3	512	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SULT1A2_ENST00000533150.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	54					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GAATCTGGCTCACCCAGGTGG	0.607													.|||	2	0.000399361	0.0	0.0	5008	,	,		20366	0.0		0.0	False		,,,				2504	0.002					ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(160-162)gtG>gtA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							87	81	83					16																	28606983		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28606983C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.162G>A	16.37:g.28606983C>T						SULT1A2_ENST00000395630.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V	p.V54V			P50226	ST1A2_HUMAN			2	1278	-			54					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.162G>A	CCDS10636.1																																																																																				0.607	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		12	163	0	0	0	1	0	12	163					T	28606983	C	T	28606983	2	4	431	1	0	0	0	0	0	0	0	1	15372	813	29	2		2	SULT1A2	16	28606983	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	5214903	28606983	61747770	103	36777											
CORO1A	11151	broad.mit.edu	37	chr16	30199764	30199764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagtggctggggggtcGggatgctgggcccctcctca	19	10	1	1	rs61736366	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:30199764G>A	ENST00000219150.5	+	10	1453	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	383					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTGGGGGGTCGGGATGCTGGG	0.697																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(1147-1149)cGg>cAg		coronin, actin binding protein, 1A		G	GLN/ARG,GLN/ARG	2,4392		0,2,2195	42	46	45		1148,1148	-0.6	0.9	16	dbSNP_129	45	2,8596		0,2,4297	yes	missense,missense	CORO1A	NM_001193333.2,NM_007074.3	43,43	0,4,6492	AA,AG,GG		0.0233,0.0455,0.0308	benign,benign	383/462,383/462	30199764	4,12988	2197	4299	6496	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30199764G>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1148G>A	16.37:g.30199764G>A	ENSP00000219150:p.Arg383Gln					CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron	p.R383Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN			10	1453	+			383					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.1148G>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	8.864	0.947545	0.18356	4.55E-4	2.33E-4	ENSG00000102879	ENST00000219150	T	0.28454	1.61	4.96	-0.622	0.11560	Domain of unknown function DUF1900 (1);	0.296607	0.31747	N	0.007129	T	0.08447	0.0210	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21314	-1.0249	10	0.17369	T	0.5	-7.2806	8.1064	0.30887	0.624:0.0:0.376:0.0	.	383	P31146	COR1A_HUMAN	Q	383	ENSP00000219150:R383Q	ENSP00000219150:R383Q	R	+	2	0	CORO1A	30107265	1.000000	0.71417	0.910000	0.35882	0.993000	0.82548	3.135000	0.50546	0.041000	0.15688	-0.258000	0.10820	CGG		0.697	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		23	193	0	0	0	1	0	23	193					A	30199764	G	A	30199764	3	1	431	1	0	0	0	0	1	0	0	0	3753	1116	39	1	1182	1	CORO1A	16	30199764	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1592781	30199764	60154989	104	36778											
RFWD3	55159	broad.mit.edu	37	chr16	74695259	74695259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagggctggtccccctTggctgctggccatgccagca	16	13	0	0	rs549873711		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:74695259T>C	ENST00000361070.4	-	2	186	c.89A>G	c.(88-90)cAa>cGa	p.Q30R	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	30					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGGTCCCCCTTGGCTGCTGGC	0.567													T|||	1	0.000199681	0.0	0.0	5008	,	,		17389	0.0		0.0	False		,,,				2504	0.001					ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(88-90)cAa>cGa		ring finger and WD repeat domain 3							105	110	108					16																	74695259		2197	4298	6495	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695259T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.89A>G	16.37:g.74695259T>C	ENSP00000354361:p.Gln30Arg					RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R	p.Q30R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			2	186	-			30					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.89A>G	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.868036	0.32977	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.24723	1.84	4.09	2.97	0.34412	.	.	.	.	.	T	0.23965	0.0580	M	0.61703	1.905	0.09310	N	1	B	0.29432	0.244	B	0.27500	0.08	T	0.17107	-1.0380	9	0.32370	T	0.25	-9.5206	6.868	0.24104	0.2057:0.0:0.0:0.7943	.	30	Q6PCD5	RFWD3_HUMAN	R	30	ENSP00000354361:Q30R	ENSP00000354361:Q30R	Q	-	2	0	RFWD3	73252760	0.664000	0.27457	0.359000	0.25824	0.033000	0.12548	0.692000	0.25482	0.719000	0.32188	0.533000	0.62120	CAA		0.567	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		13	325	0	0	0	1	0	13	325					C	74695259	T	C	74695259	3	2	431	1	0	0	0	0	1	0	0	0	13261	1812	63	3	2283	3	RFWD3	16	74695259	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	44495495	74695259	15659494	105	36779											
POLR2A	5430	broad.mit.edu	37	chr17	7406572	7406572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggatgcgggaggatcgGgaggtgctcagggtcatctt	19	7	3	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:7406572G>A	ENST00000322644.6	+	17	3288	c.2889G>A	c.(2887-2889)cgG>cgA	p.R963R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	963					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)				GGGAGGATCGGGAGGTGCTCA	0.602																																						ENST00000322644.6																			0				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						c.(2887-2889)cgG>cgA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							134	129	131					17																	7406572		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7406572G>A			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.2889G>A	17.37:g.7406572G>A							p.R963R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			17	3288	+		Prostate(122;0.173)	963					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.2889G>A	CCDS32548.1																																																																																				0.602	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	125	0	0	0	1	0	6	125					A	7406572	G	A	7406572	2	1	431	1	0	0	0	0	0	0	0	1	12214	1219	43	2		2	POLR2A	17	7406572	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		7406572	73788638	106	36780											
MYH4	4622	broad.mit.edu	37	chr17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	13	11	0	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	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						CTGGTTGATGCGGGTGACCAT	0.478																																						ENST00000255381.2																			0				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						c.(1333-1335)cGc>cAc		myosin, heavy chain 4, skeletal muscle							196	181	186					17																	10363351		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363351C>T		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.1334G>A	17.37:g.10363351C>T	ENSP00000255381:p.Arg445His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R445H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			14	1444	-			445			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1334G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456265	0.96223	.	.	ENSG00000141048	ENST00000255381	D	0.88741	-2.42	5.34	5.34	0.76211	Myosin head, motor domain (2);	0.000000	0.38272	U	0.001758	D	0.95639	0.8582	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.96124	0.9087	10	0.87932	D	0	.	19.3946	0.94601	0.0:1.0:0.0:0.0	.	445	Q9Y623	MYH4_HUMAN	H	445	ENSP00000255381:R445H	ENSP00000255381:R445H	R	-	2	0	MYH4	10304076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.669000	0.90835	0.650000	0.86243	CGC		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	416	0	0	0	1	0	6	416					T	10363351	C	T	10363351	3	4	431	1	0	0	0	0	1	0	0	0	10037	768	27	1	4593	1	MYH4	17	10363351	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	2956779	10363351	70831859	107	36781											
MYO18A	399687	broad.mit.edu	37	chr17	27442064	27442064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggttctggaagcccGgggtgtcgacaatcatcatg	14	10	4	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:27442064G>A	ENST00000527372.1	-	14	2552	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	791	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)			CTGGAAGCCCGGGGTGTCGAC	0.637																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(2371-2373)cCg>cTg		myosin XVIIIA							36	41	39					17																	27442064		1984	4153	6137	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27442064G>A	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.2372C>T	17.37:g.27442064G>A	ENSP00000437073:p.Pro791Leu					MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L	p.P791L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		14	2552	-			791			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.2372C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182606	0.94885	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.26	5.26	0.73747	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.81802	2.56	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;0.999;0.999;0.999;1.0	D	0.87391	0.2363	10	0.87932	D	0	.	18.878	0.92346	0.0:0.0:1.0:0.0	.	460;403;791;791;791	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	L	791;791;791;791;791;403	ENSP00000346291:P791L;ENSP00000435932:P791L;ENSP00000434228:P791L;ENSP00000437073:P791L	ENSP00000346291:P791L	P	-	2	0	MYO18A	24466190	1.000000	0.71417	0.635000	0.29338	0.948000	0.59901	9.359000	0.97115	2.470000	0.83445	0.561000	0.74099	CCG		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		6	64	0	0	0	1	0	6	64					A	27442064	G	A	27442064	3	1	431	1	0	0	0	0	1	0	0	0	10065	1116	39	1	3908	1	MYO18A	17	27442064	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	17078713	27442064	53753146	108	36782											
SEC14L1	6397	broad.mit.edu	37	chr17	75205560	75205560	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagccccacatgaggTacgtcctccgccttcctgca	9	16	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:75205560T>C	ENST00000413679.2	+	14	1914		c.e14+2		SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site|SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)						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						CCACATGAGGTACGTCCTCCG	0.612																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.e14+2		SEC14-like 1 (S. cerevisiae)							67	56	60					17																	75205560		2203	4300	6503	SO:0001630	splice_region_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205560T>C	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.1611+2T>C	17.37:g.75205560T>C						SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site|SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site		NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			14	1914	+								A8K4E8|B4DDI5|D5G3K1|Q99780	Splice_Site	SNP	ENST00000413679.2	37		CCDS11752.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172190	0.38315	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	.	.	.	5.48	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7996	0.52120	0.0:0.0:0.1472:0.8528	.	.	.	.	.	-1	.	.	.	+	.	.	SEC14L1	72717155	1.000000	0.71417	0.851000	0.33527	0.252000	0.25951	5.847000	0.69451	0.872000	0.35775	0.533000	0.62120	.		0.612	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	Intron	10	36	0	0	0	1	0	10	36					C	75205560	T	C	75205560	5	2	431	1	0	0	0	0	0	0	1	0	13981	1652	57	3	1659	3	SEC14L1	17	75205560	Splice_Site	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	47763496	75205560	5989650	109	36783											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	12	16	2	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		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)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	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						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66	65	65					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	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.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R215Q|CIC_ENST00000575354.2_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			68	6	0	0	0	1	0	68	6					A	42791758	G	A	42791758	3	1	431	1	0	0	0	0	1	0	0	0	3424	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		42791758	16337225	110	36784											
MYH14	79784	broad.mit.edu	37	chr19	50784917	50784917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggggaggaggcacggCgccgggcagcccgggaggcc	22	12	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:50784917C>T	ENST00000596571.1	+	30	4234	c.4234C>T	c.(4234-4236)Cgc>Tgc	p.R1412C	MYH14_ENST00000440075.2_Missense_Mutation_p.R1453C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1412					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)		GGAGGCACGGCGCCGGGCAGC	0.726																																						ENST00000440075.2																			0				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						c.(4357-4359)Cgc>Tgc		myosin, heavy chain 14, non-muscle							9	13	12					19																	50784917		1843	3934	5777	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50784917C>T	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.4234C>T	19.37:g.50784917C>T	ENSP00000472819:p.Arg1412Cys					MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1412C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C	p.R1453C			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	33	4404	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1412					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4357C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845113	0.71603	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	3.75	3.75	0.43078	Myosin tail (1);	.	.	.	.	D	0.88581	0.6475	M	0.66297	2.02	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.969;0.982;0.969	D	0.89247	0.3588	9	0.87932	D	0	.	11.3291	0.49467	0.0:1.0:0.0:0.0	.	1453;1412;1420	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1412;1453;1445;1420;1453	ENSP00000406273:R1453C;ENSP00000366169:R1445C;ENSP00000407879:R1420C;ENSP00000262269:R1453C	ENSP00000262269:R1453C	R	+	1	0	MYH14	55476729	0.001000	0.12720	1.000000	0.80357	0.993000	0.82548	-0.205000	0.09411	2.126000	0.65437	0.555000	0.69702	CGC		0.726	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		8	1	0	0	0	1	0	8	1					T	50784917	C	T	50784917	3	4	431	1	0	0	0	0	1	0	0	0	10033	768	27	1	4483	1	MYH14	19	50784917	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	7993159	50784917	8344066	111	36785											
C20orf54	113278	broad.mit.edu	37	chr20	745940	745940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggtagtgagaccggagCcctgggcaagagccaccagg	16	12	0	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr20:745940C>T	ENST00000217254.7	-	2	720	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G160D	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	160					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GAGACCGGAGCCCTGGGCAAG	0.602																																						ENST00000381944.3																			0											c.(478-480)gGc>gAc		solute carrier family 52 (riboflavin transporter), member 3							71	68	69					20																	745940		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:745940C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.479G>A	20.37:g.745940C>T	ENSP00000217254:p.Gly160Asp					SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G160D	p.G160D			Q9NQ40	RFT2_HUMAN			2	720	-			160					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.479G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146610	0.94603	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	D;D	0.96427	-4.01;-4.01	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98541	1.0632	10	0.56958	D	0.05	-28.4737	18.3092	0.90193	0.0:1.0:0.0:0.0	.	160;160	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	D	160	ENSP00000217254:G160D;ENSP00000371370:G160D	ENSP00000217254:G160D	G	-	2	0	C20orf54	693940	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.759000	0.85235	2.677000	0.91161	0.561000	0.74099	GGC		0.602	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		35	95	0	0	0	1	0	35	95					T	745940	C	T	745940	3	4	431	1	0	0	0	0	1	0	0	0	2114	739	26	2	946	2	C20orf54	20	745940	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		745940	62279580	112	36786											
PABPC1L	80336	broad.mit.edu	37	chr20	43561000	43561000	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccagcccaggctgcAtactatggctgtggcccagt	11	15	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr20:43561000A>G	ENST00000217073.2	+	9	1257	c.1257A>G	c.(1255-1257)gcA>gcG	p.A419A	PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000255136.3_Silent_p.A419A|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	419	Pro-rich.				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						CCCAGGCTGCATACTATGGCT	0.622																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1255-1257)gcA>gcG		poly(A) binding protein, cytoplasmic 1-like							51	55	54					20																	43561000		1568	3582	5150	SO:0001819	synonymous_variant	80336						nucleotide binding|RNA binding	g.chr20:43561000A>G	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.1257A>G	20.37:g.43561000A>G						PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000217073.2_Silent_p.A419A|PABPC1L_ENST00000537323.1_Intron	p.A419A	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			9	1339	+			419			Pro-rich.		Q4VY17	Silent	SNP	ENST00000217073.2	37	c.1257A>G	CCDS42878.1																																																																																				0.622	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			21	99	0	0	0	1	0	21	99					G	43561000	A	G	43561000	2	3	431	1	0	0	0	0	0	0	0	1	11364	204	8	3		3	PABPC1L	20	43561000	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	42815060	43561000	19464520	113	36787											
CCT8L2	150160	broad.mit.edu	37	chr22	17073095	17073095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctctgcctgttccaGcaaggcttccgtcagcagaa	10	14	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:17073095G>A	ENST00000359963.3	-	1	605	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	116					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCTGTTCCAGCAAGGCTTCC	0.662																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(346-348)Ctg>Ttg		chaperonin containing TCP1, subunit 8 (theta)-like 2							59	48	52					22																	17073095		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073095G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.346C>T	22.37:g.17073095G>A							p.L116L	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	605	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	116					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.346C>T	CCDS13738.1																																																																																				0.662	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			30	47	0	0	0	1	0	30	47					A	17073095	G	A	17073095	2	1	431	1	0	0	0	0	0	0	0	1	2961	962	34	2		2	CCT8L2	22	17073095	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		17073095	34231471	114	36788											
SERPIND1	3053	broad.mit.edu	37	chr22	21134208	21134208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccattcataatctcttccGtaagctgactcatcgcctct	5	14	4	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:21134208G>A	ENST00000215727.5	+	2	891	c.608G>A	c.(607-609)cGt>cAt	p.R203H	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R203H	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	203	Glycosaminoglycan-binding site.				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)	AATCTCTTCCGTAAGCTGACT	0.433																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(607-609)cGt>cAt		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						100	97	98					22																	21134208		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134208G>A	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.608G>A	22.37:g.21134208G>A	ENSP00000215727:p.Arg203His					SERPIND1_ENST00000406799.1_Missense_Mutation_p.R203H|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	p.R203H	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	891	+	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)	203			Glycosaminoglycan-binding site.		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.608G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988128	0.74589	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.88201	-2.35;-2.35	5.97	4.96	0.65561	Serpin domain (3);	0.046303	0.85682	N	0.000000	D	0.86414	0.5927	L	0.43923	1.385	0.80722	D	1	P;P	0.37914	0.611;0.611	B;B	0.42188	0.266;0.379	D	0.85562	0.1228	10	0.45353	T	0.12	.	12.1071	0.53818	0.1375:0.0:0.8625:0.0	.	203;203	Q8IVC0;P05546	.;HEP2_HUMAN	H	203	ENSP00000215727:R203H;ENSP00000384050:R203H	ENSP00000215727:R203H	R	+	2	0	SERPIND1	19464208	1.000000	0.71417	0.922000	0.36590	0.993000	0.82548	5.835000	0.69368	1.531000	0.49152	0.655000	0.94253	CGT		0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		4	205	0	0	0	1	0	4	205					A	21134208	G	A	21134208	3	1	431	1	0	0	0	0	1	0	0	0	14110	1145	40	1	610	1	SERPIND1	22	21134208	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	4061113	21134208	30170358	115	36789											
CYTH4	27128	broad.mit.edu	37	chr22	37708164	37708164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaagcacgaatcgtaccGcatctcagccaccagtgccg	11	15	1	0	rs369905837		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:37708164G>A	ENST00000248901.6	+	12	1248	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	354	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAATCGTACCGCATCTCAGCC	0.622																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(1060-1062)cGc>cAc		cytohesin 4		G	HIS/ARG	0,4406		0,0,2203	136	119	125		1061	3.7	1	22		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTH4	NM_013385.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	354/395	37708164	1,13005	2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37708164G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.1061G>A	22.37:g.37708164G>A	ENSP00000248901:p.Arg354His						p.R354H	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			12	1248	+			354			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.1061G>A	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534140	0.27475	0.0	1.16E-4	ENSG00000100055	ENST00000248901	T	0.16324	2.35	4.71	3.68	0.42216	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.361979	0.27645	N	0.018445	T	0.11452	0.0279	L	0.35644	1.08	0.80722	D	1	P	0.44690	0.841	B	0.37451	0.25	T	0.04678	-1.0934	10	0.31617	T	0.26	.	8.7161	0.34411	0.1695:0.0:0.8305:0.0	.	354	Q9UIA0	CYH4_HUMAN	H	354	ENSP00000248901:R354H	ENSP00000248901:R354H	R	+	2	0	CYTH4	36038110	0.000000	0.05858	0.953000	0.39169	0.044000	0.14063	0.002000	0.13061	2.339000	0.79563	0.561000	0.74099	CGC		0.622	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			50	61	0	0	0	1	0	50	61					A	37708164	G	A	37708164	3	1	431	1	0	0	0	0	1	0	0	0	4206	1087	38	1	1107	1	CYTH4	22	37708164	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	16573956	37708164	13596402	116	36790											
MAGEB6	158809	broad.mit.edu	37	chrX	26212566	26212566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagaagaaggcgtgcacGttggcgcaattcctgcagaa	13	8	0	3	rs375231005		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:26212566G>A	ENST00000379034.1	+	2	752	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	201	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGCGTGCACGTTGGCGCAAT	0.483													.|||	1	0.000264901	0.0	0.0	3775	,	,		16745	0.001		0.0	False		,,,				2504	0.0					ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(601-603)acG>acA		melanoma antigen family B, 6		G		0,3833		0,0,1631,571	84	71	75		603	0	0	X		75	1,6727		0,1,2427,1872	no	coding-synonymous	MAGEB6	NM_173523.2		0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095		201/408	26212566	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212566G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.603G>A	X.37:g.26212566G>A							p.T201T	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	752	+			201			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.603G>A	CCDS14217.1																																																																																				0.483	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		9	222	0	0	0	1	0	9	222					A	26212566	G	A	26212566	2	1	431	1	0	0	0	0	0	0	0	1	9179	1132	40	1		1	MAGEB6	23	26212566	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		26212566	129057994	117	36791											
HUWE1	10075	broad.mit.edu	37	chrX	53644041	53644041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaacaaaagactgaagacctCgggcattcaaacagagtgca	10	9	1	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:53644041C>A	ENST00000342160.3	-	20	2304	c.1847G>T	c.(1846-1848)cGa>cTa	p.R616L	HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L|HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	616					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAAGACCTCGGGCATTCAA	0.478																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1846-1848)cGa>cTa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							62	55	58					X																	53644041		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53644041C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1847G>T	X.37:g.53644041C>A	ENSP00000340648:p.Arg616Leu					HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L|HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L	p.R616L			Q7Z6Z7	HUWE1_HUMAN			20	2304	-			616					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1847G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176442	0.94846	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	0.93;0.93;0.93	5.45	5.45	0.79879	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.67449	0.2894	M	0.80183	2.485	0.54753	D	0.999987	D	0.76494	0.999	D	0.76575	0.988	T	0.72286	-0.4338	10	0.72032	D	0.01	.	17.0476	0.86508	0.0:1.0:0.0:0.0	.	616	Q7Z6Z7	HUWE1_HUMAN	L	616	ENSP00000340648:R616L;ENSP00000262854:R616L;ENSP00000218328:R616L	ENSP00000218328:R616L	R	-	2	0	HUWE1	53660766	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.421000	0.80204	2.289000	0.77006	0.594000	0.82650	CGA		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		26	69	1	0	4.72057e-08	1	4.89286e-08	26	69					A	53644041	C	A	53644041	3	1	431	1	0	0	0	0	1	0	0	0	7461	884	31	4	11533	4	HUWE1	23	53644041	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	27431475	53644041	101626519	118	36792											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528954	77528954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagcataggtgctgaggCggcacaagaagtcaccaaag	12	9	1	2	rs199711042		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:77528954C>T	ENST00000373304.3	-	3	582	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	97					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGTGCTGAGGCGGCACAAGAA	0.443																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(289-291)cGc>cAc		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						61	48	52					X																	77528954		2202	4300	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528954C>T	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.290G>A	X.37:g.77528954C>T	ENSP00000362401:p.Arg97His						p.R97H	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	582	-			97					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.290G>A	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.228496	0.58777	.	.	ENSG00000173198	ENST00000373304	T	0.72942	-0.7	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.83953	2.67	0.48185	D	0.999603	D	0.89917	1.0	D	0.91635	0.999	D	0.86884	0.2044	10	0.72032	D	0.01	.	13.8027	0.63212	0.0:1.0:0.0:0.0	.	97	Q9Y271	CLTR1_HUMAN	H	97	ENSP00000362401:R97H	ENSP00000362401:R97H	R	-	2	0	CYSLTR1	77415610	1.000000	0.71417	0.997000	0.53966	0.299000	0.27559	7.602000	0.82796	1.823000	0.53134	0.452000	0.29995	CGC		0.443	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			16	73	0	0	0	1	0	16	73					T	77528954	C	T	77528954	3	4	431	1	0	0	0	0	1	0	0	0	4201	768	27	1	727	1	CYSLTR1	23	77528954	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23884913	77528954	77741606	119	36793											
SYTL4	94121	broad.mit.edu	37	chrX	99934381	99934381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcttctttgatccacacCtggagctctcccccttcccc	6	18	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:99934381C>A	ENST00000372989.1	-	17	1918	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H	SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000491602.1_5'Flank|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q529H	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	529	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)"	TGATCCACACCTGGAGCTCTC	0.512																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1585-1587)caG>caT		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						131	94	107					X																	99934381		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99934381C>A		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.1587G>T	X.37:g.99934381C>A	ENSP00000362080:p.Gln529His					SYTL4_ENST00000372989.1_Missense_Mutation_p.Q529H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H	p.Q529H			Q96C24	SYTL4_HUMAN			16	1933	-			529			C2 2.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1587G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	9.951	1.220218	0.22457	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	4.87	2.88	0.33553	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.057177	0.64402	D	0.000001	T	0.32255	0.0823	N	0.00325	-1.645	0.37249	D	0.906475	B	0.14805	0.011	B	0.16289	0.015	T	0.06752	-1.0809	9	.	.	.	-3.9866	4.6395	0.12541	0.1508:0.5812:0.0:0.268	.	529	Q96C24	SYTL4_HUMAN	H	529;529;531;529;529	ENSP00000362080:Q529H;ENSP00000390252:Q529H;ENSP00000403556:Q531H;ENSP00000276141:Q529H;ENSP00000263033:Q529H	.	Q	-	3	2	SYTL4	99821037	0.772000	0.28567	1.000000	0.80357	0.999000	0.98932	-0.098000	0.11024	0.341000	0.23771	0.600000	0.82982	CAG		0.512	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		38	107	1	0	8.16277e-20	1	8.58603e-20	38	107					A	99934381	C	A	99934381	3	1	431	1	0	0	0	0	1	0	0	0	15482	680	24	4	440	4	SYTL4	23	99934381	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	22405427	99934381	55336179	120	36794											
BTK	695	broad.mit.edu	37	chrX	100617592	100617592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcccatagcatttttGgctgtctgagagcagcagag	13	9	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:100617592G>A	ENST00000308731.7	-	6	640	c.477C>T	c.(475-477)gcC>gcT	p.A159A	BTK_ENST00000372880.1_Silent_p.A159A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	159					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						TAGCATTTTTGGCTGTCTGAG	0.438									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				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						c.(475-477)gcC>gcT		Bruton agammaglobulinemia tyrosine kinase							137	126	130					X																	100617592		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617592G>A	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.477C>T	X.37:g.100617592G>A						BTK_ENST00000372880.1_Silent_p.A159A	p.A159A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			6	640	-			159					B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.477C>T	CCDS14482.1																																																																																				0.438	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		5	297	0	0	0	1	0	5	297					A	100617592	G	A	100617592	2	1	431	1	0	0	0	0	0	0	0	1	1557	1335	47	2		2	BTK	23	100617592	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	683211	100617592	54652968	121	36795											
GPRASP2	114928	broad.mit.edu	37	chrX	101972002	101972002	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagccaatgcgagaacgaaGtttcacgttctgaaaatgct	9	9	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:101972002G>C	ENST00000535209.1	+	4	3036	c.2205G>C	c.(2203-2205)aaG>aaC	p.K735N	GPRASP2_ENST00000543253.1_Missense_Mutation_p.K735N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	735						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						CGAGAACGAAGTTTCACGTTC	0.393																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2203-2205)aaG>aaC		G protein-coupled receptor associated sorting protein 2							93	86	89					X																	101972002		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101972002G>C	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.2205G>C	X.37:g.101972002G>C	ENSP00000437394:p.Lys735Asn					GPRASP2_ENST00000535209.1_Missense_Mutation_p.K735N|GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N	p.K735N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	3124	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2205G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495720	0.12762	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.35048	1.33;1.33;1.33	4.17	-1.74	0.08056	Armadillo-like helical (1);Armadillo-type fold (1);	0.142462	0.32473	N	0.006045	T	0.39064	0.1064	L	0.52011	1.625	0.21386	N	0.999703	D	0.52996	0.957	P	0.54060	0.741	T	0.37384	-0.9708	10	0.87932	D	0	.	8.8393	0.35131	0.6322:0.0:0.3678:0.0	.	735	Q96D09	GASP2_HUMAN	N	735	ENSP00000437872:K735N;ENSP00000437394:K735N;ENSP00000339057:K735N	ENSP00000339057:K735N	K	+	3	2	GPRASP2	101858658	1.000000	0.71417	0.322000	0.25334	0.037000	0.13140	0.473000	0.22132	-0.604000	0.05760	-0.312000	0.09012	AAG		0.393	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		27	297	0	0	0	1	0	27	297					C	101972002	G	C	101972002	3	2	431	1	0	0	0	0	1	0	0	0	6723	1020	36	4	2207	4	GPRASP2	23	101972002	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1354410	101972002	53298558	122	36796											
PLS3	5358	broad.mit.edu	37	chrX	114880830	114880830	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccaaaccctgactttaGctttagtctggcagctgatg	10	10	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:114880830G>C	ENST00000420625.2	+	13	1620	c.1486G>C	c.(1486-1488)Gct>Cct	p.A496P	PLS3_ENST00000289290.3_Missense_Mutation_p.A460P|PLS3_ENST00000537301.1_Missense_Mutation_p.A483P|PLS3_ENST00000355899.3_Missense_Mutation_p.A496P|PLS3_ENST00000539310.1_Missense_Mutation_p.A451P|PLS3_ENST00000543070.1_Missense_Mutation_p.A90P	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	496	Actin-binding 2.|CH 3. {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						CCTGACTTTAGCTTTAGTCTG	0.413																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(1486-1488)Gct>Cct		plastin 3							162	135	144					X																	114880830		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114880830G>C	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.1486G>C	X.37:g.114880830G>C	ENSP00000398945:p.Ala496Pro					PLS3_ENST00000355899.3_Missense_Mutation_p.A496P|PLS3_ENST00000289290.3_Missense_Mutation_p.A460P|PLS3_ENST00000543070.1_Missense_Mutation_p.A90P|PLS3_ENST00000539310.1_Missense_Mutation_p.A451P|PLS3_ENST00000537301.1_Missense_Mutation_p.A483P	p.A496P	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			13	1620	+			496			Actin-binding 2.|CH 3.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.1486G>C	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061019	0.93846	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.33	5.33	0.75918	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.047969	0.85682	D	0.000000	D	0.98362	0.9456	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.969;0.999	D;D;P;D	0.79784	0.993;0.988;0.698;0.988	D	0.99731	1.1012	10	0.87932	D	0	-13.2141	16.5563	0.84486	0.0:0.0:1.0:0.0	.	469;483;460;496	B4DPW9;B4DGB4;F8W8D8;P13797	.;.;.;PLST_HUMAN	P	496;483;460;496;451;90	ENSP00000348163:A496P;ENSP00000445105:A483P;ENSP00000289290:A460P;ENSP00000398945:A496P;ENSP00000445339:A451P;ENSP00000439260:A90P	ENSP00000289290:A460P	A	+	1	0	PLS3	114787086	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.216000	0.71823	0.506000	0.49869	GCT		0.413	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			4	260	0	0	0	1	0	4	260					C	114880830	G	C	114880830	3	2	431	1	0	0	0	0	1	0	0	0	12108	971	34	4	1532	4	PLS3	23	114880830	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	12908828	114880830	40389730	123	36797											
SLC25A43	203427	broad.mit.edu	37	chrX	118540573	118540573	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaacatactggaaccAtcgtacagggggctcctcca	10	12	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:118540573A>T	ENST00000217909.7	+	2	770	c.426A>T	c.(424-426)ccA>ccT	p.P142P	SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	142					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TACTGGAACCATCGTACAGGG	0.488																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(424-426)ccA>ccT		solute carrier family 25, member 43							116	102	107					X																	118540573		2203	4300	6503	SO:0001819	synonymous_variant	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118540573A>T	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"Solute carriers"	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.426A>T	X.37:g.118540573A>T						SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR	p.P142P	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			2	770	+			142					O75854|Q8N9L5	Silent	SNP	ENST00000217909.7	37	c.426A>T	CCDS14577.1																																																																																				0.488	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		22	204	0	0	0	1	0	22	204					T	118540573	A	T	118540573	2	4	431	1	0	0	0	0	0	0	0	1	14508	204	8	5		5	SLC25A43	23	118540573	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	3659743	118540573	36729987	124	36798											
SLITRK4	139065	broad.mit.edu	37	chrX	142716492	142716492	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttcgccttcagttcaaaAtactcactcttcctttgttc	4	12	4	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:142716492A>G	ENST00000381779.4	-	2	2658	c.2433T>C	c.(2431-2433)taT>taC	p.Y811Y	SLITRK4_ENST00000338017.4_Silent_p.Y811Y|SLITRK4_ENST00000356928.1_Silent_p.Y811Y	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	811						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)					TCAGTTCAAAATACTCACTCT	0.413																																						ENST00000381779.4																			0				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						c.(2431-2433)taT>taC		SLIT and NTRK-like family, member 4							145	124	131					X																	142716492		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716492A>G	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.2433T>C	X.37:g.142716492A>G						SLITRK4_ENST00000338017.4_Silent_p.Y811Y|SLITRK4_ENST00000356928.1_Silent_p.Y811Y	p.Y811Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2658	-	Acute lymphoblastic leukemia(192;6.56e-05)		811					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2433T>C	CCDS14679.1																																																																																				0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		5	242	0	0	0	1	0	5	242					G	142716492	A	G	142716492	2	3	431	1	0	0	0	0	0	0	0	1	14745	108	4	3		3	SLITRK4	23	142716492	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	24175919	142716492	12554068	125	36799											
MAGEA12	4111	broad.mit.edu	37	chrX	151900377	151900377	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaagtcctggaaatTtctgatgacactccccagca	9	10	1	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:151900377T>A	ENST00000357916.4	-	2	579	c.424A>T	c.(424-426)Aat>Tat	p.N142Y	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.N142Y|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.N142Y|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	142	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGAAATTTCTGATGACA	0.507																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(424-426)Aat>Tat		melanoma antigen family A, 12							147	139	142					X																	151900377		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900377T>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.424A>T	X.37:g.151900377T>A	ENSP00000350592:p.Asn142Tyr					MAGEA12_ENST00000357916.4_Missense_Mutation_p.N142Y|MAGEA12_ENST00000393869.3_Missense_Mutation_p.N142Y|CSAG4_ENST00000361201.4_RNA	p.N142Y	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	777	-	Acute lymphoblastic leukemia(192;6.56e-05)		142			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.424A>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395398	0.25205	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05319	3.46;3.46;3.46	0.8	-0.556	0.11803	.	1.106110	0.06736	N	0.777559	T	0.20700	0.0498	M	0.88842	2.985	0.09310	N	1	D	0.54207	0.965	P	0.55161	0.77	T	0.13548	-1.0505	9	0.66056	D	0.02	.	.	.	.	.	142	P43365	MAGAC_HUMAN	Y	142	ENSP00000350592:N142Y;ENSP00000377447:N142Y;ENSP00000377478:N142Y	ENSP00000350592:N142Y	N	-	1	0	MAGEA12	151651033	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.952000	0.03881	-0.254000	0.09500	0.143000	0.16000	AAT		0.507	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	457	0	0	0	1	0	5	457					A	151900377	T	A	151900377	3	1	431	1	0	0	0	0	1	0	0	0	9166	1841	64	5	524	5	MAGEA12	23	151900377	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	9183885	151900377	3370183	126	36800											
PNMA5	114824	broad.mit.edu	37	chrX	152159711	152159711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaggctctaaaggtggGgatctaacttggggcatgac	15	7	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:152159711G>A	ENST00000439251.1	-	2	870	c.432C>T	c.(430-432)tcC>tcT	p.S144S	PNMA5_ENST00000361887.5_Silent_p.S144S|PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000535214.1_Silent_p.S144S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	144					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTAAAGGTGGGGATCTAACTT	0.537																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(430-432)tcC>tcT		paraneoplastic Ma antigen family member 5							146	148	147					X																	152159711		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159711G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.432C>T	X.37:g.152159711G>A						PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000361887.5_Silent_p.S144S|PNMA5_ENST00000535214.1_Silent_p.S144S	p.S144S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	870	-	Acute lymphoblastic leukemia(192;6.56e-05)		144					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.432C>T	CCDS14718.1																																																																																				0.537	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		33	385	0	0	0	1	0	33	385					A	152159711	G	A	152159711	2	1	431	1	0	0	0	0	0	0	0	1	12156	1219	43	2		2	PNMA5	23	152159711	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	259334	152159711	3110849	127	36801											
SPRY3	10251	broad.mit.edu	37	chrX	155004315	155004315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccggcgaccaggctgccGctgcaagaggcacaccaaca	11	17	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:155004315G>A	ENST00000302805.2	+	2	1213	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	261	Cys-rich.				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)					CCAGGCTGCCGCTGCAAGAGG	0.572																																						ENST00000302805.2																			0											c.(781-783)cGc>cAc		sprouty homolog 3 (Drosophila)							151	147	148					X																	155004315		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004315G>A	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.782G>A	X.37:g.155004315G>A	ENSP00000302978:p.Arg261His						p.R261H	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	1213	+	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)		261			Cys-rich.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.782G>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711940	0.68730	.	.	ENSG00000168939	ENST00000302805	T	0.68479	-0.33	2.94	2.94	0.34122	.	0.000000	0.64402	D	0.000001	T	0.77890	0.4198	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.67304	-0.5704	9	0.59425	D	0.04	-16.0959	10.9825	0.47504	0.0:0.0:1.0:0.0	.	261	O43610	SPY3_HUMAN	H	261	ENSP00000302978:R261H	ENSP00000302978:R261H	R	+	2	0	SPRY3	154657509	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.117000	0.94347	1.494000	0.48533	0.279000	0.19357	CGC		0.572	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		23	315	0	0	0	1	0	23	315					A	155004315	G	A	155004315	3	1	431	1	0	0	0	0	1	0	0	0	15106	1087	38	1	784	1	SPRY3	23	155004315	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	2844604	155004315	266245	128	36802											
PLEKHG5	57449	broad.mit.edu	37	chr1	6530295	6530295	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggtggccctggaatcaCcttgctgtccttcccctcct	11	15	1	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr1:6530295C>T	ENST00000400915.3	-	17	2035		c.e17+1		PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377748.1_Splice_Site	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGAATCACCTTGCTGTCC	0.662																																						ENST00000377748.1																			0				liver(1)	1						c.e17+1		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							94	82	86					1																	6530295		2203	4300	6503	SO:0001630	splice_region_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6530295C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1968+1G>A	1.37:g.6530295C>T						PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site		NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	17	2529	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)						B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Splice_Site	SNP	ENST00000400915.3	37		CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242272	0.39598	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5108	0.44860	0.0:0.9101:0.0:0.0899	.	.	.	.	.	-1	.	.	.	-	.	.	PLEKHG5	6452882	1.000000	0.71417	0.993000	0.49108	0.457000	0.32468	7.120000	0.77153	1.349000	0.45751	0.462000	0.41574	.		0.662	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631	Intron	9	76	0	0	0	1	0	9	76					T	6530295	C	T	6530295	5	4	432	1	0	0	0	0	0	0	1	0	12073	521	18	2	1243	2	PLEKHG5	1	6530295	Splice_Site	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		6530295	242720326	1	36803											
AFF3	3899	broad.mit.edu	37	chr2	100170874	100170874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgccatctggtggatgCgctgtgggatgctgacgatg	17	9	1	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:100170874C>T	ENST00000409236.2	-	22	3570	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000317233.4_Missense_Mutation_p.R1153H|AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1153					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R1178H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGTGGATGCGCTGTGGGAT	0.632																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.R1178H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(3457-3459)cGc>cAc		AF4/FMR2 family, member 3							123	107	113					2																	100170874		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170874C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3458G>A	2.37:g.100170874C>T	ENSP00000387207:p.Arg1153His					AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H|AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000409236.1_Missense_Mutation_p.R1153H	p.R1153H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			23	3693	-			1153					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3458G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770594	0.96914	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.75264	2.295	0.80722	D	1	P;D	0.89917	0.806;1.0	P;D	0.91635	0.538;0.999	T	0.82416	-0.0468	10	0.49607	T	0.09	.	19.3609	0.94438	0.0:1.0:0.0:0.0	.	1153;1178	P51826;P51826-2	AFF3_HUMAN;.	H	1153;1178;1178;1153;179	ENSP00000317421:R1153H;ENSP00000348793:R1178H;ENSP00000386834:R1178H;ENSP00000387207:R1153H;ENSP00000416685:R179H	ENSP00000317421:R1153H	R	-	2	0	AFF3	99537306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.569000	0.86673	0.655000	0.94253	CGC		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	179	0	0	0	1	0	4	179					T	100170874	C	T	100170874	3	4	432	1	0	0	0	0	1	0	0	0	358	768	27	1	230	1	AFF3	2	100170874	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		100170874	143028499	2	36804											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	175	0	0	0	1	0	21	175					A	209113113	G	A	209113113	3	1	432	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	108942239	209113113	34086260	3	36805											
HDAC4	9759	broad.mit.edu	37	chr2	240005917	240005917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggctgccacggccacGgagttgaagtagcaaaagcc	13	11	0	1	rs149230665		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:240005917G>A	ENST00000345617.3	-	20	3242	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	AC017028.8_ENST00000582701.1_RNA|MIR4441_ENST00000582623.1_RNA|HDAC4_ENST00000543185.1_Silent_p.S401S|AC017028.7_ENST00000579869.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	817	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|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)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCACGGCCACGGAGTTGAAGT	0.632																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2449-2451)tcC>tcT		histone deacetylase 4		G		1,4405	2.1+/-5.4	0,1,2202	45	39	41		2451	-4.7	0.9	2	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HDAC4	NM_006037.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		817/1085	240005917	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240005917G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2451C>T	2.37:g.240005917G>A						HDAC4_ENST00000543185.1_Silent_p.S401S	p.S817S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	20	3242	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	817			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2451C>T	CCDS2529.1																																																																																				0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		3	35	0	0	0	1	0	3	35					A	240005917	G	A	240005917	2	1	432	1	0	0	0	0	0	0	0	1	7009	1103	39	1		1	HDAC4	2	240005917	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	30892804	240005917	3193456	4	36806											
TRAIP	10293	broad.mit.edu	37	chr3	49869465	49869465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcatcacggaaggatggCcggcggagcttcagattcac	12	10	4	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:49869465C>T	ENST00000331456.2	-	11	1034	c.921G>A	c.(919-921)cgG>cgA	p.R307R	TRAIP_ENST00000469027.1_Silent_p.R152R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	307	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R307R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAAGGATGGCCGGCGGAGCT	0.547																																						ENST00000331456.2																			2	Substitution - coding silent(2)	p.R307R(2)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(919-921)cgG>cgA		TRAF interacting protein							78	81	80					3																	49869465		2203	4300	6503	SO:0001819	synonymous_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49869465C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.921G>A	3.37:g.49869465C>T						TRAIP_ENST00000469027.1_Silent_p.R152R	p.R307R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1034	-			307			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Silent	SNP	ENST00000331456.2	37	c.921G>A	CCDS2806.1																																																																																				0.547	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		17	110	0	0	0	1	0	17	110					T	49869465	C	T	49869465	2	4	432	1	0	0	0	0	0	0	0	1	16445	726	26	2		2	TRAIP	3	49869465	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		49869465	148152965	5	36807											
CEP97	79598	broad.mit.edu	37	chr3	101484296	101484296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcaaggtgaaattagCcagacacaagagaattctaa	8	8	1	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:101484296C>T	ENST00000341893.3	+	11	3251	c.2499C>T	c.(2497-2499)agC>agT	p.S833S	CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	833					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGAAATTAGCCAGACACAAG	0.418																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(2497-2499)agC>agT		centrosomal protein 97kDa							125	125	125					3																	101484296		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101484296C>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"leucine-rich repeats and IQ motif containing 2"	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.2499C>T	3.37:g.101484296C>T						CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S	p.S833S			Q8IW35	CEP97_HUMAN			11	3251	+			833					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.2499C>T	CCDS2944.1																																																																																				0.418	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		5	412	0	0	0	1	0	5	412					T	101484296	C	T	101484296	2	4	432	1	0	0	0	0	0	0	0	1	3263	738	26	2		2	CEP97	3	101484296	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	51614831	101484296	96538134	6	36808											
MED12L	116931	broad.mit.edu	37	chr3	150834225	150834225	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatattgtaattaacccatCaaaggtaatgttatttgttt	5	4	1	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:150834225C>T	ENST00000474524.1	+	2	238	c.200C>T	c.(199-201)tCa>tTa	p.S67L	MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	67						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)			ATTAACCCATCAAAGGTAATG	0.363																																						ENST00000474524.1																			0				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						c.(199-201)tCa>tTa		mediator complex subunit 12-like							93	92	92					3																	150834225		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150834225C>T	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.200C>T	3.37:g.150834225C>T	ENSP00000417235:p.Ser67Leu					MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L	p.S67L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	238	+			67					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.200C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196975	0.79015	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.60920	0.49;0.49;0.38;0.15	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000003	T	0.68604	0.3019	L	0.50333	1.59	0.36155	D	0.84771	P;P;P;D	0.62365	0.782;0.9;0.884;0.991	B;P;B;P	0.58520	0.26;0.452;0.426;0.84	T	0.76950	-0.2769	10	0.87932	D	0	-10.2171	18.1844	0.89788	0.0:1.0:0.0:0.0	.	67;67;67;67	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	67	ENSP00000403308:S67L;ENSP00000310760:S67L;ENSP00000417235:S67L;ENSP00000273432:S67L	ENSP00000273432:S67L	S	+	2	0	MED12L	152316915	0.996000	0.38824	1.000000	0.80357	0.878000	0.50629	7.478000	0.81082	2.378000	0.81104	0.484000	0.47621	TCA		0.363	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	51	0	0	0	1	0	9	51					T	150834225	C	T	150834225	3	4	432	1	0	0	0	0	1	0	0	0	9429	838	29	2	206	2	MED12L	3	150834225	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	49349929	150834225	47188205	7	36809											
PACRGL	133015	broad.mit.edu	37	chr4	20715062	20715062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaaccttacaggtccattCggatgatgaagtgtttgaaa	9	8	0	3	rs373074413		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:20715062C>T	ENST00000503585.1	+	7	900	c.509C>T	c.(508-510)tCg>tTg	p.S170L	PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.S170L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	170										endometrium(2)|lung(7)|prostate(1)	10						CAGGTCCATTCGGATGATGAA	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20646	0.0		0.0	False		,,,				2504	0.0					ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(508-510)tCg>tTg		PARK2 co-regulated-like		C	LEU/SER,LEU/SER	0,4406		0,0,2203	189	160	170		215,509	4.1	0.6	4		170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PACRGL	NM_001130727.1,NM_145048.3	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	72/124,170/222	20715062	1,13005	2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715062C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 28"	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.509C>T	4.37:g.20715062C>T	ENSP00000423881:p.Ser170Leu					PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000503585.1_Missense_Mutation_p.S170L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L	p.S170L	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			7	900	+			170					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.509C>T	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784427	0.49997	0.0	1.16E-4	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.69685	3.47;-0.42;3.47;3.47;1.37;3.47;3.47;3.47;3.47;3.47	5.88	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.292428	0.29892	N	0.010936	T	0.60766	0.2294	L	0.56769	1.78	0.28717	N	0.903232	B;B;B;B;B;B	0.23185	0.056;0.006;0.081;0.035;0.044;0.008	B;B;B;B;B;B	0.16722	0.016;0.004;0.01;0.016;0.016;0.002	T	0.54820	-0.8236	10	0.37606	T	0.19	-2.287	11.6143	0.51080	0.0:0.8745:0.0:0.1255	.	117;170;218;72;117;170	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	L	218;170;170;170;72;72;117;117;72;170;72;170;117;117	ENSP00000423499:S218L;ENSP00000423881:S170L;ENSP00000354171:S170L;ENSP00000295290:S170L;ENSP00000422394:S117L;ENSP00000425461:S117L;ENSP00000422425:S170L;ENSP00000425938:S170L;ENSP00000426286:S117L;ENSP00000421687:S117L	ENSP00000295290:S170L	S	+	2	0	PACRGL	20324160	0.000000	0.05858	0.564000	0.28396	0.830000	0.47004	0.845000	0.27668	0.742000	0.32697	0.655000	0.94253	TCG		0.428	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		20	125	0	0	0	1	0	20	125					T	20715062	C	T	20715062	3	4	432	1	0	0	0	0	1	0	0	0	11371	893	31	1	531	1	PACRGL	4	20715062	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		20715062	170439214	8	36810											
TLR6	10333	broad.mit.edu	37	chr4	38829460	38829460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacacttcacttgatacttgGtctatatttttgacaaattc	4	8	2	2	rs369506555		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:38829460G>T	ENST00000381950.1	-	1	1700	c.1635C>A	c.(1633-1635)gaC>gaA	p.D545E	TLR6_ENST00000436693.2_Missense_Mutation_p.D545E			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	545	LRRCT.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|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)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGATACTTGGTCTATATTTT	0.418																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1633-1635)gaC>gaA		toll-like receptor 6							203	214	210					4																	38829460		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829460G>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1635C>A	4.37:g.38829460G>T	ENSP00000371376:p.Asp545Glu					TLR6_ENST00000381950.1_Missense_Mutation_p.D545E	p.D545E	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN			2	1754	-			545			LRRCT.		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1635C>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.687373	0.00006	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.51071	0.72;0.72	4.92	3.17	0.36434	Cysteine-rich flanking region, C-terminal (1);	0.539137	0.18111	N	0.151371	T	0.12305	0.0299	N	0.00462	-1.47	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35301	-0.9794	10	0.02654	T	1	.	7.6228	0.28195	0.07:0.2177:0.6024:0.1099	.	545	Q9Y2C9	TLR6_HUMAN	E	545	ENSP00000389600:D545E;ENSP00000371376:D545E	ENSP00000371376:D545E	D	-	3	2	TLR6	38505855	0.000000	0.05858	0.090000	0.20809	0.191000	0.23601	-0.463000	0.06696	0.130000	0.18549	-2.056000	0.00403	GAC		0.418	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			6	566	1	0	8.12818e-05	1	8.6362e-05	6	566					T	38829460	G	T	38829460	3	4	432	1	0	0	0	0	1	0	0	0	15952	1252	44	4	759	4	TLR6	4	38829460	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	18114398	38829460	152324816	9	36811											
SFRP2	6423	broad.mit.edu	37	chr4	154709562	154709562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgggggaaacggtcGcactcaagcatgtcgggcca	14	11	1	0	rs142242428	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:154709562G>A	ENST00000274063.4	-	1	710	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	142	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				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)				GGAAACGGTCGCACTCAAGCA	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17676	0.0		0.0	False		,,,				2504	0.0					ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(424-426)tgC>tgT		secreted frizzled-related protein 2		G		7,4399	12.9+/-30.5	0,7,2196	79	80	80		426	0.5	1	4	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	SFRP2	NM_003013.2		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		142/296	154709562	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709562G>A	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.426C>T	4.37:g.154709562G>A							p.C142C	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	710	-	all_hematologic(180;0.093)	Renal(120;0.117)	142			FZ.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.426C>T	CCDS34082.1																																																																																				0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			13	135	0	0	0	1	0	13	135					A	154709562	G	A	154709562	2	1	432	1	0	0	0	0	0	0	0	1	14162	1079	38	1		1	SFRP2	4	154709562	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	115880102	154709562	36444714	10	36812											
SDHA	6389	broad.mit.edu	37	chr5	236619	236619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcctgtgcctcggTacatggtgccaaccgcctcg	14	15	0	0	rs201741295	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr5:236619T>C	ENST00000264932.6	+	10	1452	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	446					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTGCCTCGGTACATGGTGCC	0.602									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1336-1338)gTa>gCa		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						75	69	71					5																	236619		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	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	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236619T>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1337T>C	5.37:g.236619T>C	ENSP00000264932:p.Val446Ala					SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A	p.V446A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1452	+			446					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1337T>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.628443	0.67015	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72835	-0.69;-0.69;-0.69	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.079100	0.50627	U	0.000109	D	0.85737	0.5766	M	0.89904	3.07	0.80722	D	1	P;D;D;P;D	0.76494	0.828;0.979;0.999;0.952;0.99	P;D;D;P;D	0.72982	0.654;0.936;0.979;0.863;0.909	D	0.88385	0.3004	10	0.66056	D	0.02	.	12.9547	0.58421	0.0:0.0:0.0:1.0	.	398;446;40;446;446	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	A	446;301;446;398	ENSP00000264932:V446A;ENSP00000426514:V446A;ENSP00000427703:V398A	ENSP00000264932:V446A	V	+	2	0	SDHA	289619	1.000000	0.71417	0.973000	0.42090	0.144000	0.21451	5.998000	0.70653	2.009000	0.58944	0.528000	0.53228	GTA		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	146	0	0	0	1	0	5	146					C	236619	T	C	236619	3	2	432	1	0	0	0	0	1	0	0	0	13963	1638	57	3	1375	3	SDHA	5	236619	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08		236619	180678641	11	36813											
HLA-C	3107	broad.mit.edu	37	chr6	31237284	31237284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacacgcagcctgagagCagctccctccttttccacct	6	17	0	1	rs76294545	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:31237284C>T	ENST00000376228.5	-	6	1048	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	HLA-C_ENST00000383329.3_Missense_Mutation_p.C351Y	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	351					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						AGCCTGAGAGCAGCTCCCTCC	0.587													C|||	3	0.000599042	0.0	0.0	5008	,	,		18458	0.003		0.0	False		,,,				2504	0.0					ENST00000383329.3																			0				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						c.(1051-1053)tGc>tAc		major histocompatibility complex, class I, C							64	69	67					6																	31237284		2203	4300	6503	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31237284C>T	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.1034G>A	6.37:g.31237284C>T	ENSP00000365402:p.Cys345Tyr					HLA-C_ENST00000376228.5_Missense_Mutation_p.C345Y	p.C351Y			Q9TNN7	1C05_HUMAN			6	1066	-			345					O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.1052G>A	CCDS34393.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	.	1.289	-0.608200	0.03717	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000539307	T;T	0.00563	6.58;6.58	2.82	1.61	0.23674	MHC class I, alpha chain, C-terminal (1);	.	.	.	.	T	0.00039	0.0001	N	0.00010	-3.045	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15052	0.007;0.012;0.007	T	0.21861	-1.0233	9	0.02654	T	1	.	4.7477	0.13045	0.0:0.1528:0.0:0.8472	.	345;351;345	A6H578;A2AEA2;P10321	.;.;1C07_HUMAN	Y	345;351;382	ENSP00000365402:C345Y;ENSP00000372819:C351Y	ENSP00000365402:C345Y	C	-	2	0	HLA-C	31345263	0.004000	0.15560	0.001000	0.08648	0.178000	0.23041	0.028000	0.13644	0.499000	0.27970	-0.856000	0.03024	TGC		0.587	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		4	88	0	0	0	1	0	4	88					T	31237284	C	T	31237284	3	4	432	1	0	0	0	0	1	0	0	0	7197	710	25	2	78	2	HLA-C	6	31237284	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		31237284	139877783	12	36814											
ZNF318	24149	broad.mit.edu	37	chr6	43305558	43305558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggattggttcgaagtcagCgggatcggaggaattacacc	15	7	1	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:43305558C>T	ENST00000361428.2	-	10	6255	c.6178G>A	c.(6178-6180)Gct>Act	p.A2060T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2060					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)			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)			TCGAAGTCAGCGGGATCGGAG	0.458																																						ENST00000361428.2																			0				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						c.(6178-6180)Gct>Act		zinc finger protein 318							89	81	84					6																	43305558		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305558C>T	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.6178G>A	6.37:g.43305558C>T	ENSP00000354964:p.Ala2060Thr					ZNF318_ENST00000318149.3_Intron	p.A2060T	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6255	-			2060					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6178G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.537430	0.00143	.	.	ENSG00000171467	ENST00000361428	T	0.10860	2.83	5.51	-4.91	0.03085	.	0.811143	0.11181	N	0.590914	T	0.00524	0.0017	N	0.01576	-0.805	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.40308	-0.9570	10	0.02654	T	1	0.2862	3.0909	0.06294	0.1057:0.378:0.2166:0.2996	.	2060	Q5VUA4	ZN318_HUMAN	T	2060	ENSP00000354964:A2060T	ENSP00000354964:A2060T	A	-	1	0	ZNF318	43413536	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	-0.202000	0.09451	-1.196000	0.02676	-1.170000	0.01741	GCT		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		4	167	0	0	0	1	0	4	167					T	43305558	C	T	43305558	3	4	432	1	0	0	0	0	1	0	0	0	17833	768	27	1	665	1	ZNF318	6	43305558	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	12068274	43305558	127809509	13	36815											
ARHGAP18	93663	broad.mit.edu	37	chr6	129963161	129963161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgtactggccatatctgCgactgtaaattcaaaagaac	8	8	2	1	rs143012976		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:129963161C>T	ENST00000368149.2	-	2	204	c.116G>A	c.(115-117)cGc>cAc	p.R39H		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)		GCCATATCTGCGACTGTAAAT	0.383													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16344	0.0		0.0	False		,,,				2504	0.0					ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(115-117)cGc>cAc		Rho GTPase activating protein 18		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	94	94		116	5	0.2	6	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ARHGAP18	NM_033515.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	39/664	129963161	3,13003	2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129963161C>T	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.116G>A	6.37:g.129963161C>T	ENSP00000357131:p.Arg39His						p.R39H	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	2	204	-			39						Missense_Mutation	SNP	ENST00000368149.2	37	c.116G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562420	0.27915	2.27E-4	2.33E-4	ENSG00000146376	ENST00000275189	.	.	.	5.89	5.02	0.67125	.	0.068669	0.53938	D	0.000043	T	0.26774	0.0655	N	0.19112	0.55	0.49582	D	0.999802	P;P	0.41498	0.71;0.752	B;B	0.42555	0.23;0.391	T	0.07947	-1.0746	8	.	.	.	.	14.9133	0.70776	0.0:0.9306:0.0:0.0694	.	39;39	A9UK01;Q8N392	.;RHG18_HUMAN	H	39	.	.	R	-	2	0	ARHGAP18	130004854	1.000000	0.71417	0.182000	0.23118	0.029000	0.11900	4.084000	0.57650	1.491000	0.48482	0.655000	0.94253	CGC		0.383	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		5	236	0	0	0	1	0	5	236					T	129963161	C	T	129963161	3	4	432	1	0	0	0	0	1	0	0	0	868	768	27	1	1931	1	ARHGAP18	6	129963161	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	86657603	129963161	41151906	14	36816											
MLL5	55904	broad.mit.edu	37	chr7	104722169	104722174	+	In_Frame_Del	DEL	TTTATA	TTTATA	-													tcaagatggaaccatacatcTttatatttattctatacaca							TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:104722169_104722174delTTTATA	ENST00000311117.3	+	13	1828_1833	c.1283_1288delTTTATA	c.(1282-1290)ctttatatt>ctt	p.YI429del	KMT2E_ENST00000334877.4_In_Frame_Del_p.YI429del|KMT2E_ENST00000257745.4_In_Frame_Del_p.YI429del|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_In_Frame_Del_p.YI429del	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	429	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										ACCATACATCTTTATATTTATTCTAT	0.306																																						ENST00000334877.4																			0											c.(1282-1290)ctt>c		lysine (K)-specific methyltransferase 2E																																				SO:0001651	inframe_deletion	55904							g.chr7:104722169_104722174delTTTATA	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.1283_1288delTTTATA	7.37:g.104722169_104722174delTTTATA	ENSP00000312379:p.Tyr429_Ile430del					KMT2E_ENST00000476671.1_In_Frame_Del_p.LYI428del|KMT2E_ENST00000257745.4_In_Frame_Del_p.LYI428del|KMT2E_ENST00000311117.3_In_Frame_Del_p.LYI428del|KMT2E_ENST00000334914.7_5'UTR	p.LYI428del							13	1817_1822	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	In_Frame_Del	DEL	ENST00000311117.3	37	c.1283_1288delTTTATA	CCDS34723.1																																																																																				0.306	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			20	166						20	166	---	---	---	---	-	104722174	TTTATA	-	104722169	7	5	432	1	0	1	0	1	0	0	0	0	9624	1609	56	0	1325	0	MLL5	7	104722169	In_Frame_Del	DEL	TTTATA	TCGA-S9-A6WI-01A-21D-A33T-08		104722169	54416494	15	36817											
WNT2	7472	broad.mit.edu	37	chr7	116955280	116955280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgcctttgctgtccttggCgcttcccatcttctttggat	8	12	2	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:116955280C>T	ENST00000265441.3	-	3	732	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	145					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)		CTGTCCTTGGCGCTTCCCATC	0.473																																						ENST00000265441.3																			0				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						c.(433-435)Gcc>Acc		wingless-type MMTV integration site family member 2							150	135	140					7																	116955280		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116955280C>T	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.433G>A	7.37:g.116955280C>T	ENSP00000265441:p.Ala145Thr					AC002465.2_ENST00000436097.1_RNA	p.A145T	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	732	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		145					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.433G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296997	0.23650	.	.	ENSG00000105989	ENST00000265441	T	0.75704	-0.96	5.56	1.3	0.21679	.	0.261889	0.38548	N	0.001660	T	0.55386	0.1917	L	0.28776	0.89	0.24240	N	0.995362	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.45011	-0.9290	10	0.51188	T	0.08	.	2.9212	0.05770	0.3319:0.4205:0.1099:0.1377	.	145;145	A4D0V1;P09544	.;WNT2_HUMAN	T	145	ENSP00000265441:A145T	ENSP00000265441:A145T	A	-	1	0	WNT2	116742516	0.056000	0.20664	0.298000	0.25002	0.947000	0.59692	0.502000	0.22594	0.333000	0.23563	0.655000	0.94253	GCC		0.473	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		6	196	0	0	0	1	0	6	196					T	116955280	C	T	116955280	3	4	432	1	0	0	0	0	1	0	0	0	17383	768	27	1	661	1	WNT2	7	116955280	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	12233111	116955280	42183383	16	36818											
PTK2	5747	broad.mit.edu	37	chr8	141762391	141762391	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtttttacatgttttaaTtgcaaccgccaaagctggat	7	8	0	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr8:141762391T>C	ENST00000522684.1	-	17	1586	c.1357A>G	c.(1357-1359)Att>Gtt	p.I453V	PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|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 ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATGTTTTAATTGCAACCGCC	0.368																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1357-1359)Att>Gtt		protein tyrosine kinase 2							72	73	73					8																	141762391		2202	4300	6502	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141762391T>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1357A>G	8.37:g.141762391T>C	ENSP00000429911:p.Ile453Val					PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V	p.I453V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		17	1586	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	453			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1357A>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.167|5.167	0.216429|0.216429	0.09810|0.09810	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207;ENST00000519024|ENST00000519654	T;T;T;T;T;T;T;T;T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.055617|.	0.64402|.	D|.	0.000001|.	T|T	0.37348|0.37348	0.1000|0.1000	N|N	0.04636|0.04636	-0.2|-0.2	0.49798|0.49798	D|D	0.999829|0.999829	B;B;B;B;B;B;B;B;B|.	0.14438|.	0.005;0.005;0.01;0.004;0.005;0.002;0.01;0.0;0.0|.	B;B;B;B;B;B;B;B;B|.	0.23150|.	0.023;0.044;0.02;0.011;0.044;0.01;0.02;0.007;0.004|.	T|T	0.35375|0.35375	-0.9791|-0.9791	10|5	0.07644|.	T|.	0.81|.	.|.	16.1444|16.1444	0.81555|0.81555	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	453;148;373;453;475;453;405;121;81|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.|.	V|S	453;453;81;497;453;405;453;374;148;125;453;121;497;151;271;88|463	ENSP00000429911:I453V;ENSP00000438009:I453V;ENSP00000429170:I81V;ENSP00000429082:I497V;ENSP00000429474:I453V;ENSP00000378644:I453V;ENSP00000428492:I125V;ENSP00000341189:I453V;ENSP00000445742:I121V;ENSP00000429129:I497V;ENSP00000430603:I151V;ENSP00000428232:I88V|.	ENSP00000341189:I453V|.	I|N	-|-	1|2	0|0	PTK2|PTK2	141831573|141831573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.372000|2.372000	0.44257|0.44257	2.223000|2.223000	0.72356|0.72356	0.455000|0.455000	0.32223|0.32223	ATT|AAT		0.368	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		4	161	0	0	0	1	0	4	161					C	141762391	T	C	141762391	3	2	432	1	0	0	0	0	1	0	0	0	12762	1493	52	3	1865	3	PTK2	8	141762391	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08		141762391	4601631	17	36819											
FAM75A6	389730	broad.mit.edu	37	chr9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggtggcgggaaagaGgatcttgctggactgatgag	19	5	1	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:43627785G>T	ENST00000332857.6	-	4	930	c.902C>A	c.(901-903)cCt>cAt	p.P301H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	301					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGGAAAGAGGATCTTGCTG	0.547																																						ENST00000332857.6																			0											c.(901-903)cCt>cAt		SPATA31 subfamily A, member 6							3	3	3					9																	43627785		555	1419	1974	SO:0001583	missense	389730							g.chr9:43627785G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.902C>A	9.37:g.43627785G>T	ENSP00000329825:p.Pro301His					SPATA31A6_ENST00000496386.1_5'UTR	p.P301H	NM_001145196.1	NP_001138668.1					4	930	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.902C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.100181	0.00360	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	1.85	1.85	0.25348	.	1.257310	0.05490	N	0.556480	T	0.01353	0.0044	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.14252	T	0.57	-0.9104	4.8878	0.13712	0.0:0.0:0.323:0.677	.	301	Q5VVP1	F75A6_HUMAN	H	301	ENSP00000329825:P301H	ENSP00000329825:P301H	P	-	2	0	FAM75A6	43567781	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.173000	0.09854	0.179000	0.19938	-0.930000	0.02707	CCT		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	951	1	0	0.000157383	1	0.000162152	6	951					T	43627785	G	T	43627785	3	4	432	1	0	0	0	0	1	0	0	0	5622	1000	35	4	3133	4	FAM75A6	9	43627785	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		43627785	97585646	18	36820											
PALM2	114299	broad.mit.edu	37	chr9	112686117	112686117	+	Silent	SNP	G	G	A													gaaacagaaaaatccttcaaGgactttcagaaggtgaagaa							TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686117G>A	ENST00000374531.2	+	5	440	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PALM2_ENST00000448454.2_Silent_p.K122K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|AKAP2_ENST00000555236.1_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	122					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AATCCTTCAAGGACTTTCAGA	0.418																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(364-366)aaG>aaA		paralemmin 2							61	58	59					9																	112686117		2203	4300	6503	SO:0001819	synonymous_variant	114299							g.chr9:112686117G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.366G>A	9.37:g.112686117G>A						AKAP2_ENST00000555236.1_Silent_p.K120K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K|PALM2_ENST00000374531.2_Silent_p.K122K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K	p.K122K							5	366	+								A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.366G>A	CCDS35099.1																																																																																				0.418	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		6	41	0	0	0	1	0	6	41					A	112686117	G	A	112686117	2	1	432	1	0	0	0	0	0	0	0	1	11409	991	35	2		2	PALM2	9	112686117	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	69058332	112686117	28527314	19	36821	157	2									
PALM2	114299	broad.mit.edu	37	chr9	112686126	112686126	+	Missense_Mutation	SNP	G	G	C													aaatccttcaaggactttcaGaaggtgaagaaaaccaaaac					rs141885294		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686126G>C	ENST00000374531.2	+	5	449	c.375G>C	c.(373-375)caG>caC	p.Q125H	PALM2_ENST00000448454.2_Missense_Mutation_p.Q125H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	125					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGACTTTCAGAAGGTGAAGA	0.413																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(373-375)caG>caC		paralemmin 2		G	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	2,4404	4.2+/-10.8	0,2,2201	55	52	53		375,369,369,369	1	1	9	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense,missense,missense	PALM2,PALM2-AKAP2	NM_001037293.2,NM_007203.4,NM_053016.5,NM_147150.2	24,24,24,24	0,2,6501	CC,CG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	125/380,123/1104,123/412,123/1091	112686126	2,13004	2203	4300	6503	SO:0001583	missense	114299							g.chr9:112686126G>C	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.375G>C	9.37:g.112686126G>C	ENSP00000363656:p.Gln125His					AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H|PALM2_ENST00000374531.2_Missense_Mutation_p.Q125H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H	p.Q125H							5	375	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.375G>C	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217595	0.58560	4.54E-4	0.0	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.20069	2.25;2.25;2.25;2.25;2.25;2.1;2.25;2.11;2.1;2.11	5.86	0.96	0.19631	.	0.000000	0.52532	D	0.000063	T	0.38108	0.1028	M	0.66939	2.045	0.32322	N	0.562303	D;D;B;P	0.89917	1.0;1.0;0.122;0.889	D;D;B;P	0.87578	0.998;0.998;0.094;0.526	T	0.46303	-0.9201	10	0.87932	D	0	-22.6648	7.7357	0.28812	0.4712:0.0:0.5288:0.0	.	123;123;125;125	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	H	125;125;123;123;109;123;123;123;123;123	ENSP00000363656:Q125H;ENSP00000400206:Q125H;ENSP00000417525:Q123H;ENSP00000323805:Q123H;ENSP00000419747:Q109H;ENSP00000363654:Q123H;ENSP00000397839:Q123H;ENSP00000305861:Q123H;ENSP00000451476:Q123H;ENSP00000421522:Q123H	ENSP00000305861:Q123H	Q	+	3	2	PALM2-AKAP2;PALM2;AKAP2	111725947	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.145000	0.42207	0.415000	0.25817	-0.136000	0.14681	CAG		0.413	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		5	35	0	0	0	1	0	5	35					C	112686126	G	C	112686126	3	2	432	1	0	0	0	0	1	0	0	0	11409	933	33	4	393	4	PALM2	9	112686126	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	9	112686126	28527305	20	36822	157	2									
FRMPD2	143162	broad.mit.edu	37	chr10	49440276	49440276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacctccaggtgctgcccGttcagcaggaccacacagag	10	14	1	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:49440276G>A	ENST00000374201.3	-	10	1352	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	350	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)		GGTGCTGCCCGTTCAGCAGGA	0.443																																						ENST00000374201.3																			0				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						c.(1048-1050)aaC>aaT		FERM and PDZ domain containing 2							101	93	95					10																	49440276		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49440276G>A	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.1050C>T	10.37:g.49440276G>A						FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	p.N350N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	10	1352	-			350			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.1050C>T	CCDS31195.1																																																																																				0.443	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		4	134	0	0	0	1	0	4	134					A	49440276	G	A	49440276	2	1	432	1	0	0	0	0	0	0	0	1	6058	1136	40	1		1	FRMPD2	10	49440276	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		49440276	86094471	21	36823											
CDHR1	92211	broad.mit.edu	37	chr10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccgccaccttctggcGcaacaagaagtctaacaagg	8	15	2	1	rs142917517		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:85973974G>A	ENST00000372117.3	+	17	2280	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	726					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						ACCTTCTGGCGCAACAAGAAG	0.642																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2176-2178)cGc>cAc		cadherin-related family member 1		G	,HIS/ARG	0,4406		0,0,2203	60	66	64		,2177	5.5	1	10	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense	CDHR1	NM_001171971.1,NM_033100.2	,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,726/860	85973974	1,13003	2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973974G>A	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.2177G>A	10.37:g.85973974G>A	ENSP00000361189:p.Arg726His					CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H|CDHR1_ENST00000332904.3_Intron	p.R726H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2280	+			726					Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2177G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	36	5.728608	0.96856	0.0	1.16E-4	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.60299	0.4;0.2	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.78494	-0.2182	10	0.62326	D	0.03	-16.5148	18.2273	0.89921	0.0:0.0:1.0:0.0	.	430;726	E7EN47;Q96JP9	.;CDHR1_HUMAN	H	726;430	ENSP00000361189:R726H;ENSP00000415980:R430H	ENSP00000361189:R726H	R	+	2	0	CDHR1	85963954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.394000	0.73223	2.596000	0.87737	0.561000	0.74099	CGC		0.642	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		4	180	0	0	0	1	0	4	180					A	85973974	G	A	85973974	3	1	432	1	0	0	0	0	1	0	0	0	3118	1087	38	1	2243	1	CDHR1	10	85973974	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	36533698	85973974	49560773	22	36824											
DMBT1	1755	broad.mit.edu	37	chr10	124333279	124333279	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcaactgtagcagaagGtaacgtctactatgggggat	14	6	2	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:124333279G>A	ENST00000338354.3	+	6	389		c.e6+1		DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						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)				GTAGCAGAAGGTAACGTCTAC	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.e6+1		deleted in malignant brain tumors 1							168	166	167					10																	124333279		1892	4111	6003	SO:0001630	splice_region_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124333279G>A		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.283+1G>A	10.37:g.124333279G>A						DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site				Q9UGM3	DMBT1_HUMAN			6	389	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)						A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Splice_Site	SNP	ENST00000338354.3	37			.	.	.	.	.	.	.	.	.	.	G	6.236	0.411655	0.11812	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	.	.	.	3.13	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.31902	N	0.615791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1777	0.15143	0.2756:0.0:0.7244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMBT1	124323269	0.997000	0.39634	0.274000	0.24659	0.013000	0.08279	1.306000	0.33505	0.366000	0.24427	-0.136000	0.14681	.		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	Intron	35	330	0	0	0	1	0	35	330					A	124333279	G	A	124333279	5	1	432	1	0	0	0	0	0	0	1	0	4577	1275	44	2	306	2	DMBT1	10	124333279	Splice_Site	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	38359305	124333279	11201468	23	36825											
LGR4	55366	broad.mit.edu	37	chr11	27398748	27398749	+	Frame_Shift_Del	DEL	TT	TT	-													attaaaacttggaaggtctcTtatattattgtaagacaagt							TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:27398748_27398749delTT	ENST00000379214.4	-	12	1508_1509	c.1065_1066delAA	c.(1063-1068)ataagafs	p.IR355fs	LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	355					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAAGGTCTCTTATATTATTGT	0.332																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1063-1068)atgafs		leucine-rich repeat containing G protein-coupled receptor 4																																				SO:0001589	frameshift_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27398748_27398749delTT	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1065_1066delAA	11.37:g.27398748_27398749delTT	ENSP00000368516:p.Ile355fs					LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs	p.IR355fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			12	1508_1509	-			355					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Del	DEL	ENST00000379214.4	37	c.1065_1066delAA	CCDS31449.1																																																																																				0.332	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		25	187						25	187	---	---	---	---	-	27398749	TT	-	27398748	7	5	432	1	0	1	0	1	0	0	0	0	8756	1617	56	0	1817	0	LGR4	11	27398748	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WI-01A-21D-A33T-08		27398748	107607768	24	36826											
SRPR	6734	broad.mit.edu	37	chr11	126135974	126135974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccagtgttcccttggtcGcactgcagggacaggagatt	12	12	0	1	rs138456100	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:126135974G>A	ENST00000332118.6	-	8	1089	c.935C>T	c.(934-936)gCg>gTg	p.A312V	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.A284V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	312					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCCCTTGGTCGCACTGCAGGG	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22112	0.0		0.0	False		,,,				2504	0.0					ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(934-936)gCg>gTg		signal recognition particle receptor (docking protein)		G	VAL/ALA,VAL/ALA	10,4392	16.8+/-37.8	0,10,2191	163	157	159		851,935	5.2	1	11	dbSNP_134	159	0,8598		0,0,4299	yes	missense,missense	SRPR	NM_001177842.1,NM_003139.3	64,64	0,10,6490	AA,AG,GG		0.0,0.2272,0.0769	benign,benign	284/611,312/639	126135974	10,12990	2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135974G>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.935C>T	11.37:g.126135974G>A	ENSP00000328023:p.Ala312Val					SRPR_ENST00000532259.1_Missense_Mutation_p.A284V	p.A312V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	8	1089	-	all_hematologic(175;0.145)		312					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.935C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900739	0.33535	0.002272	0.0	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	5.25	0.73442	Signal recognition particle, SRP54 subunit, helical bundle (1);	0.461581	0.26432	N	0.024412	T	0.44973	0.1319	L	0.36672	1.1	0.45962	D	0.99878	B;B	0.30526	0.283;0.024	B;B	0.17979	0.02;0.004	T	0.34527	-0.9825	9	0.29301	T	0.29	-1.9048	14.2816	0.66216	0.0732:0.0:0.9268:0.0	.	284;312	E9PJS4;P08240	.;SRPR_HUMAN	V	312;284	.	ENSP00000328023:A312V	A	-	2	0	SRPR	125641184	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.196000	0.72094	2.738000	0.93877	0.655000	0.94253	GCG		0.478	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		5	383	0	0	0	1	0	5	383					A	126135974	G	A	126135974	3	1	432	1	0	0	0	0	1	0	0	0	15161	1087	38	1	1009	1	SRPR	11	126135974	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	98737226	126135974	8870542	25	36827											
SAP18	10284	broad.mit.edu	37	chr13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacctccttcagggcGcatgagaccatattaaattc	8	13	1	1	rs376710499		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104	109	107		503	4.1	1	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"sin3A-associated protein, 18kDa"			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		5	324	0	0	0	1	0	5	324					A	21721465	G	A	21721465	3	1	432	1	0	0	0	0	1	0	0	0	13832	1087	38	1	517	1	SAP18	13	21721465	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		21721465	93448413	26	36828											
FREM2	341640	broad.mit.edu	37	chr13	39263907	39263907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagttccaggtggaagaccGagctgggaatgtggctccag	15	10	0	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:39263907G>A	ENST00000280481.7	+	1	2642	c.2426G>A	c.(2425-2427)cGa>cAa	p.R809Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	809					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)		GTGGAAGACCGAGCTGGGAAT	0.542																																						ENST00000280481.7																			0				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						c.(2425-2427)cGa>cAa		FRAS1 related extracellular matrix protein 2							74	76	76					13																	39263907		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263907G>A	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.2426G>A	13.37:g.39263907G>A	ENSP00000280481:p.Arg809Gln						p.R809Q	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		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)	1	2642	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	809					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2426G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107400	0.20714	.	.	ENSG00000150893	ENST00000280481	T	0.41400	1.0	5.8	-0.194	0.13240	.	1.080580	0.07083	N	0.837300	T	0.16727	0.0402	N	0.02985	-0.445	0.21499	N	0.999662	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	10	0.10902	T	0.67	.	6.7617	0.23544	0.3619:0.3511:0.2871:0.0	.	809	Q5SZK8	FREM2_HUMAN	Q	809	ENSP00000280481:R809Q	ENSP00000280481:R809Q	R	+	2	0	FREM2	38161907	0.002000	0.14202	0.982000	0.44146	0.995000	0.86356	0.312000	0.19397	-0.016000	0.14127	0.655000	0.94253	CGA		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		14	123	0	0	0	1	0	14	123					A	39263907	G	A	39263907	3	1	432	1	0	0	0	0	1	0	0	0	6045	1058	37	1	2428	1	FREM2	13	39263907	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	17542442	39263907	75905971	27	36829											
PSME1	5720	broad.mit.edu	37	chr14	24606754	24606754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaggatgaaaagaagaAgggggaggatgaagacaaag	16	2	0	6			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr14:24606754A>C	ENST00000206451.6	+	5	377	c.272A>C	c.(271-273)aAg>aCg	p.K91T	PSME1_ENST00000561435.1_Missense_Mutation_p.K91T|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000382708.3_Missense_Mutation_p.K91T|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000470718.1_3'UTR	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	91					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)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GAAAAGAAGAAGGGGGAGGAT	0.488																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(271-273)aAg>aCg		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							80	93	89					14																	24606754		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606754A>C		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.272A>C	14.37:g.24606754A>C	ENSP00000206451:p.Lys91Thr					PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.K91T|PSME1_ENST00000561435.1_Missense_Mutation_p.K91T	p.K91T	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	5	335	+			91					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.272A>C	CCDS9612.1	.	.	.	.	.	.	.	.	.	.	a	16.03	3.005973	0.54361	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.33438	1.84;1.41	4.91	3.75	0.43078	.	1.382090	0.04242	N	0.337135	T	0.25232	0.0613	N	0.08118	0	0.32184	N	0.58003	P;D	0.53151	0.956;0.958	P;P	0.50082	0.63;0.558	T	0.20075	-1.0286	10	0.15066	T	0.55	0.4503	10.0465	0.42190	0.8302:0.1698:0.0:0.0	.	91;91	A6NJG9;Q06323	.;PSME1_HUMAN	T	91	ENSP00000206451:K91T;ENSP00000372155:K91T	ENSP00000206451:K91T	K	+	2	0	PSME1	23676594	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.376000	0.73141	0.891000	0.36235	0.460000	0.39030	AAG		0.488	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		17	101	0	0	0	1	0	17	101					C	24606754	A	C	24606754	3	2	432	1	0	0	0	0	1	0	0	0	12706	72	3	5	290	5	PSME1	14	24606754	Missense_Mutation	SNP	A	TCGA-S9-A6WI-01A-21D-A33T-08		24606754	82742786	28	36830											
PKD1	5310	broad.mit.edu	37	chr16	2143667	2143667	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggcgtcacagccgggctctCtaccagggtgtcatcttcat	11	13	5	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2143667C>T	ENST00000262304.4	-	37	11102	c.10894G>A	c.(10894-10896)Gag>Aag	p.E3632K	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3632			E -> D (in PKD1). {ECO:0000269|PubMed:11773467, ECO:0000269|PubMed:8554072}.		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						GCCGGGCTCTCTACCAGGGTG	0.642																																						ENST00000262304.4																			0				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						c.(10894-10896)Gag>Aag		polycystic kidney disease 1 (autosomal dominant)																																				SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143667C>T	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.10894G>A	16.37:g.2143667C>T	ENSP00000262304:p.Glu3632Lys					RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K	p.E3632K	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			37	11102	-			3632		E -> D (in ADPKD1).			Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.10894G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634224	0.67130	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.39229	1.09;1.09	4.87	4.87	0.63330	.	0.060413	0.64402	D	0.000005	T	0.62792	0.2457	M	0.61703	1.905	0.46774	D	0.999196	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62859	-0.6765	10	0.42905	T	0.14	.	18.0416	0.89320	0.0:1.0:0.0:0.0	.	3631;3632	P98161-3;P98161	.;PKD1_HUMAN	K	3632;3631;2966	ENSP00000262304:E3632K;ENSP00000399501:E3631K	ENSP00000262304:E3632K	E	-	1	0	PKD1	2083668	1.000000	0.71417	0.068000	0.19968	0.186000	0.23388	5.374000	0.66167	2.257000	0.74773	0.561000	0.74099	GAG		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	40	0	0	0	1	0	3	40					T	2143667	C	T	2143667	3	4	432	1	0	0	0	0	1	0	0	0	11963	922	32	2	2057	2	PKD1	16	2143667	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		2143667	88211086	29	36831											
CASKIN1	57524	broad.mit.edu	37	chr16	2236990	2236990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgcttactgtgatgatgtCccctgccttcacgttgaggc	10	12	1	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2236990C>A	ENST00000343516.6	-	9	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	307	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTGATGATGTCCCCTGCCTTC	0.652																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(919-921)Gac>Tac		CASK interacting protein 1							68	72	71					16																	2236990		2026	4174	6200	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236990C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.919G>T	16.37:g.2236990C>A	ENSP00000345436:p.Asp307Tyr						p.D307Y	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			9	1011	-			307			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.919G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011458	0.54468	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.18657	2.2	4.81	4.81	0.61882	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.60843	0.2300	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75082	-0.3443	9	0.87932	D	0	-35.0165	16.5975	0.84800	0.0:1.0:0.0:0.0	.	307	Q8WXD9	CSKI1_HUMAN	Y	307;136	ENSP00000345436:D307Y	ENSP00000345436:D307Y	D	-	1	0	CASKIN1	2176991	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	7.560000	0.82277	2.496000	0.84212	0.563000	0.77884	GAC		0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		13	144	1	0	0.00185496	1	0.00188264	13	144					A	2236990	C	A	2236990	3	1	432	1	0	0	0	0	1	0	0	0	2666	855	30	4	3424	4	CASKIN1	16	2236990	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	93323	2236990	88117763	30	36832											
GRIN2A	2903	broad.mit.edu	37	chr16	10032029	10032029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttttgggatgagctccGtgttcccagagaccaagctg	11	11	1	2			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:10032029G>A	ENST00000396573.2	-	4	1103	c.794C>T	c.(793-795)aCg>aTg	p.T265M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M|GRIN2A_ENST00000566670.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	265					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.T265M(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)	GATGAGCTCCGTGTTCCCAGA	0.552																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.T265M(1)	large_intestine(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						c.(793-795)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						71	60	64					16																	10032029		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032029G>A		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.794C>T	16.37:g.10032029G>A	ENSP00000379818:p.Thr265Met					GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M	p.T265M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1103	-			265					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.794C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.947562	0.73787	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.156108	0.56097	D	0.000024	D	0.87293	0.6141	L	0.58669	1.825	0.41827	D	0.990057	P;P;D	0.69078	0.81;0.939;0.997	B;P;P	0.56343	0.24;0.489;0.796	D	0.86740	0.1954	9	.	.	.	.	18.0961	0.89490	0.0:0.0:1.0:0.0	.	108;265;265	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	265;265;108;265;265	ENSP00000379818:T265M;ENSP00000385872:T265M;ENSP00000441572:T108M;ENSP00000332549:T265M;ENSP00000379820:T265M	.	T	-	2	0	GRIN2A	9939530	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	6.481000	0.73608	2.582000	0.87167	0.561000	0.74099	ACG		0.552	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	122	0	0	0	1	0	5	122					A	10032029	G	A	10032029	3	1	432	1	0	0	0	0	1	0	0	0	6779	1145	40	1	3644	1	GRIN2A	16	10032029	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	7795039	10032029	80322724	31	36833											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					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						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				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						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		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.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		13	562						13	562	---	---	---	---	-	20370702	CCA	-	20370700	7	5	432	1	0	1	0	1	0	0	0	0	11674	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-S9-A6WI-01A-21D-A33T-08	10338671	20370700	69984053	32	36834											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	11	12	3	2	rs577654275	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					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)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2																			0				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						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159	164	162					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>A	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.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp						p.R5070W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	219	0	0	0	1	0	4	219					A	70841641	G	A	70841641	3	1	432	1	0	0	0	0	1	0	0	0	7467	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	50470941	70841641	19513112	33	36835											
FAM83G	644815	broad.mit.edu	37	chr17	18881175	18881175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgggggccagggccacGgccggagctgcctgagtggc	19	14	0	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:18881175G>A	ENST00000388995.6	-	5	2027	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	602					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						CCAGGGCCACGGCCGGAGCTG	0.637																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1804-1806)Cgt>Tgt		family with sequence similarity 83, member G							36	42	40					17																	18881175		2025	4163	6188	SO:0001583	missense	644815							g.chr17:18881175G>A	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.1804C>T	17.37:g.18881175G>A	ENSP00000373647:p.Arg602Cys					FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron	p.R602C			A6ND36	FA83G_HUMAN			5	2027	-			602					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1804C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770664	0.31320	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12255	2.7;2.7	5.91	2.47	0.30058	.	1.797520	0.02785	N	0.121428	T	0.11879	0.0289	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.26395	-1.0104	10	0.56958	D	0.05	2.8532	7.4688	0.27336	0.0845:0.0:0.6081:0.3075	.	602	A6ND36	FA83G_HUMAN	C	602	ENSP00000373647:R602C;ENSP00000343279:R602C	ENSP00000343279:R602C	R	-	1	0	FAM83G	18821900	0.405000	0.25336	0.171000	0.22900	0.902000	0.53008	0.702000	0.25631	0.812000	0.34326	0.655000	0.94253	CGT		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			20	150	0	0	0	1	0	20	150					A	18881175	G	A	18881175	3	1	432	1	0	0	0	0	1	0	0	0	5639	1116	39	1	675	1	FAM83G	17	18881175	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		18881175	62314035	34	36836											
NEK8	284086	broad.mit.edu	37	chr17	27061088	27061088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgaccaaggaagagcgGcaggcagcccagaatgagtg	15	9	0	5			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:27061088G>A	ENST00000268766.6	+	2	169	c.135G>A	c.(133-135)cgG>cgA	p.R45R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGAAGAGCGGCAGGCAGCCC	0.527																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(133-135)cgG>cgA		NIMA-related kinase 8							109	97	101					17																	27061088		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061088G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.135G>A	17.37:g.27061088G>A						NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.R45R	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			2	169	+	Lung NSC(42;0.0158)		45			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.135G>A	CCDS32597.1																																																																																				0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			10	127	0	0	0	1	0	10	127					A	27061088	G	A	27061088	2	1	432	1	0	0	0	0	0	0	0	1	10330	1190	42	2		2	NEK8	17	27061088	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	8179913	27061088	54134122	35	36837											
CDK12	51755	broad.mit.edu	37	chr17	37686866	37686866	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccttccacagcatgtcctcCtcacattcttccaccagaga	4	18	2	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:37686866C>G	ENST00000447079.4	+	14	3803	c.3770C>G	c.(3769-3771)cCt>cGt	p.P1257R	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					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						GCATGTCCTCCTCACATTCTT	0.512			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3769-3771)cCt>cGt		cyclin-dependent kinase 12							101	130	120					17																	37686866		2199	4289	6488	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686866C>G	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.3770C>G	17.37:g.37686866C>G	ENSP00000398880:p.Pro1257Arg	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Intron	p.P1257R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3803	+			1257					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3770C>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846118	0.32606	.	.	ENSG00000167258	ENST00000447079	T	0.78126	-1.15	5.35	5.35	0.76521	.	0.000000	0.46145	D	0.000316	T	0.82130	0.4970	L	0.34521	1.04	0.44352	D	0.997246	D	0.71674	0.998	D	0.78314	0.991	T	0.80320	-0.1432	10	0.36615	T	0.2	-9.3213	16.606	0.84830	0.0:1.0:0.0:0.0	.	1257	Q9NYV4	CDK12_HUMAN	R	1257	ENSP00000398880:P1257R	ENSP00000398880:P1257R	P	+	2	0	CDK12	34940392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.312000	0.65792	2.789000	0.95967	0.655000	0.94253	CCT		0.512	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	492	0	0	0	1	0	12	492					G	37686866	C	G	37686866	3	3	432	1	0	0	0	0	1	0	0	0	3128	681	24	4	3824	4	CDK12	17	37686866	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	10625778	37686866	43508344	36	36838											
SPAG9	9043	broad.mit.edu	37	chr17	49197893	49197893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaccacctcctcgtcaTagcgcccgataagccgctcg	8	17	1	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:49197893T>C	ENST00000262013.7	-	1	333	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C|SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	42					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTCGTCATAGCGCCCGAT	0.667																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(124-126)tAt>tGt		sperm associated antigen 9							57	50	52					17																	49197893		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49197893T>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.125A>G	17.37:g.49197893T>C	ENSP00000262013:p.Tyr42Cys					SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C|SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C	p.Y42C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		1	333	-			42					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.125A>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299907	0.81136	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.61627	0.09;0.09;0.09	3.66	3.66	0.41972	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.56097	U	0.000024	T	0.76716	0.4026	M	0.85373	2.75	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.81022	-0.1121	10	0.87932	D	0	-5.5089	12.6329	0.56667	0.0:0.0:0.0:1.0	.	42;42;42	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	C	42	ENSP00000262013:Y42C;ENSP00000426900:Y42C;ENSP00000349636:Y42C	ENSP00000262013:Y42C	Y	-	2	0	SPAG9	46552892	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.205000	0.77881	1.434000	0.47414	0.248000	0.18094	TAT		0.667	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		6	36	0	0	0	1	0	6	36					C	49197893	T	C	49197893	3	2	432	1	0	0	0	0	1	0	0	0	14985	1406	49	3	3960	3	SPAG9	17	49197893	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08	11511027	49197893	31997317	37	36839											
NUP85	79902	broad.mit.edu	37	chr17	73204634	73204634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactagttgattccaggcGtgaattccaagaagaaccaa	8	8	0	4	rs199651391	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:73204634G>A	ENST00000245544.4	+	2	117	c.46G>A	c.(46-48)Gtg>Atg	p.V16M	NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	16					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)			GATTCCAGGCGTGAATTCCAA	0.333													G|||	23	0.00459265	0.0	0.0029	5008	,	,		16559	0.001		0.0	False		,,,				2504	0.0204					ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(46-48)Gtg>Atg		nucleoporin 85kDa		G	MET/VAL	0,4406		0,0,2203	166	184	178		46	1.7	0.7	17		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP85	NM_024844.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	16/657	73204634	1,13005	2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73204634G>A	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.46G>A	17.37:g.73204634G>A	ENSP00000245544:p.Val16Met					NUP85_ENST00000449421.2_Intron|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M	p.V16M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		2	117	+	all_lung(278;0.14)|Lung NSC(278;0.168)		16					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.46G>A	CCDS32730.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.019	0.984383	0.18889	0.0	1.16E-4	ENSG00000125450	ENST00000245544	.	.	.	4.78	1.7	0.24286	.	0.775039	0.12437	N	0.469016	T	0.42653	0.1212	L	0.51422	1.61	0.80722	D	1	D	0.56035	0.974	B	0.40228	0.323	T	0.22977	-1.0201	9	0.38643	T	0.18	-15.5503	8.5431	0.33404	0.2464:0.0:0.7536:0.0	.	16	Q9BW27	NUP85_HUMAN	M	16	.	ENSP00000245544:V16M	V	+	1	0	NUP85	70716229	0.996000	0.38824	0.659000	0.29680	0.001000	0.01503	2.570000	0.45981	0.188000	0.20168	0.563000	0.77884	GTG		0.333	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		5	552	0	0	0	1	0	5	552					A	73204634	G	A	73204634	3	1	432	1	0	0	0	0	1	0	0	0	10770	1145	40	1	52	1	NUP85	17	73204634	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	24006741	73204634	7990576	38	36840											
PLD3	23646	broad.mit.edu	37	chr19	40872763	40872763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtttctatgggaataCggcgacttgcatctctttgg	11	9	2	0	rs535493639		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:40872763C>T	ENST00000409587.1	+	5	583	c.186C>T	c.(184-186)taC>taT	p.Y62Y	PLD3_ENST00000409735.4_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409281.1_Silent_p.Y62Y|PLD3_ENST00000409419.1_Silent_p.Y62Y			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	62					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TATGGGAATACGGCGACTTGC	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17215	0.0		0.0	False		,,,				2504	0.0					ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(184-186)taC>taT		phospholipase D family, member 3							74	70	71					19																	40872763		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872763C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.186C>T	19.37:g.40872763C>T						PLD3_ENST00000409419.1_Silent_p.Y62Y|PLD3_ENST00000409735.4_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409281.1_Silent_p.Y62Y	p.Y62Y			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		5	583	+			62					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.186C>T	CCDS33027.1																																																																																				0.632	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		4	185	0	0	0	1	0	4	185					T	40872763	C	T	40872763	2	4	432	1	0	0	0	0	0	0	0	1	12047	547	19	1		1	PLD3	19	40872763	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		40872763	18256220	39	36841											
DKKL1	27120	broad.mit.edu	37	chr19	49867940	49867940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctatccatgatgctgacGcccaagagagctccttgggt	10	13	0	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49867940G>A	ENST00000221498.2	+	2	517	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TEAD2_ENST00000539846.1_5'Flank|TEAD2_ENST00000593945.1_5'Flank|DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000601519.1_5'Flank|TEAD2_ENST00000311227.2_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	38					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGATGCTGACGCCCAAGAGAG	0.622																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(112-114)Gcc>Acc		dickkopf-like 1							59	54	56					19																	49867940		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867940G>A	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.112G>A	19.37:g.49867940G>A	ENSP00000221498:p.Ala38Thr					DKKL1_ENST00000594268.1_Intron	p.A38T	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	2	517	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	38						Missense_Mutation	SNP	ENST00000221498.2	37	c.112G>A	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199258	0.38806	.	.	ENSG00000104901	ENST00000221498	T	0.12147	2.71	4.17	-1.52	0.08637	.	1.596950	0.03912	N	0.282123	T	0.10937	0.0267	L	0.36672	1.1	0.09310	N	1	B	0.28584	0.216	B	0.13407	0.009	T	0.34453	-0.9828	10	0.62326	D	0.03	-1.413	6.5032	0.22180	0.1049:0.0:0.4705:0.4246	.	38	Q9UK85	DKKL1_HUMAN	T	38	ENSP00000221498:A38T	ENSP00000221498:A38T	A	+	1	0	DKKL1	54559752	0.000000	0.05858	0.007000	0.13788	0.651000	0.38670	-1.091000	0.03369	-0.324000	0.08589	0.561000	0.74099	GCC		0.622	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		22	86	0	0	0	1	0	22	86					A	49867940	G	A	49867940	3	1	432	1	0	0	0	0	1	0	0	0	4548	1087	38	1	118	1	DKKL1	19	49867940	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	8995177	49867940	9261043	40	36842											
CCDC155	147872	broad.mit.edu	37	chr19	49898519	49898519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttcctggttgtcatgcGtgactggattgctgcctgtc	11	11	1	1	rs62623430	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49898519G>A	ENST00000447857.3	+	4	510	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	102						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GTTGTCATGCGTGACTGGATT	0.552													G|||	3	0.000599042	0.0	0.0029	5008	,	,		20505	0.0		0.001	False		,,,				2504	0.0					ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(304-306)cGt>cAt		coiled-coil domain containing 155		G	HIS/ARG	1,4299		0,1,2149	112	116	115		305	3.2	1	19	dbSNP_129	115	5,8503		0,5,4249	yes	missense	CCDC155	NM_144688.4	29	0,6,6398	AA,AG,GG		0.0588,0.0233,0.0468	probably-damaging	102/563	49898519	6,12802	2150	4254	6404	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49898519G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.305G>A	19.37:g.49898519G>A	ENSP00000404220:p.Arg102His						p.R102H	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			4	510	+			102					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.305G>A	CCDS46140.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.79	3.892399	0.72524	2.33E-4	5.88E-4	ENSG00000161609	ENST00000447857	T	0.63580	-0.05	4.48	3.24	0.37175	EF-hand-like domain (1);	0.226336	0.35320	N	0.003284	T	0.71031	0.3292	M	0.76574	2.34	0.28463	N	0.915768	D;D;D	0.71674	0.991;0.991;0.998	P;P;P	0.62740	0.747;0.747;0.906	T	0.64253	-0.6451	10	0.66056	D	0.02	-10.1713	5.5324	0.16993	0.1878:0.0:0.8122:0.0	rs62623430	102;102;182	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	H	102	ENSP00000404220:R102H	ENSP00000404220:R102H	R	+	2	0	CCDC155	54590331	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.228000	0.42981	2.226000	0.72624	0.561000	0.74099	CGT		0.552	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		25	143	0	0	0	1	0	25	143					A	49898519	G	A	49898519	3	1	432	1	0	0	0	0	1	0	0	0	2788	1145	40	1	315	1	CCDC155	19	49898519	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	30579	49898519	9230464	41	36843											
ZNF320	162967	broad.mit.edu	37	chr19	53384108	53384108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcaaggtgtgatttgCgaatgtaaactttgtcacat	9	6	3	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:53384108C>T	ENST00000595635.1	-	8	1772	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	424					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(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTGTGATTTGCGAATGTAAAC	0.388																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(1270-1272)cGc>cAc		zinc finger protein 320							91	81	84					19																	53384108		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384108C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1271G>A	19.37:g.53384108C>T	ENSP00000473091:p.Arg424His					ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000597909.1_Intron	p.R424H	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	1772	-			424					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1271G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	2.947	-0.217534	0.06101	.	.	ENSG00000182986	ENST00000391781	T	0.36157	1.27	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	N	0.25332	0.735	0.09310	N	1	B	0.30326	0.276	B	0.19666	0.026	T	0.26467	-1.0102	9	0.13108	T	0.6	.	4.1187	0.10095	0.1605:0.4108:0.0:0.4287	.	424	A2RRD8	ZN320_HUMAN	H	424	ENSP00000375660:R424H	ENSP00000375660:R424H	R	-	2	0	ZNF320	58075920	0.000000	0.05858	0.000000	0.03702	0.534000	0.34807	-4.597000	0.00210	-0.808000	0.04387	0.184000	0.17185	CGC		0.388	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		4	165	0	0	0	1	0	4	165					T	53384108	C	T	53384108	3	4	432	1	0	0	0	0	1	0	0	0	17836	768	27	1	262	1	ZNF320	19	53384108	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	3485589	53384108	5744875	42	36844											
RALGAPB	57148	broad.mit.edu	37	chr20	37203492	37203492	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctacagtcccccccAtgtccgccggaaacagaaaa	7	16	0	2			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr20:37203492A>T	ENST00000262879.6	+	30	4651	c.4367A>T	c.(4366-4368)cAt>cTt	p.H1456L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1456					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCCCCCCATGTCCGCCGG	0.438																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(4366-4368)cAt>cTt		Ral GTPase activating protein, beta subunit (non-catalytic)							91	98	96					20																	37203492		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37203492A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4367A>T	20.37:g.37203492A>T	ENSP00000262879:p.His1456Leu					RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L	p.H1456L			Q86X10	RLGPB_HUMAN			30	4651	+			1456					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.4367A>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569051	0.86439	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	M	0.74881	2.28	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	D	0.96716	0.9529	10	0.66056	D	0.02	.	16.3109	0.82869	1.0:0.0:0.0:0.0	.	1453;1456	A2A2E9;Q86X10	.;RLGPB_HUMAN	L	1456;1453;1235;1456;1285	ENSP00000262879:H1456L;ENSP00000380235:H1453L;ENSP00000380231:H1235L;ENSP00000380233:H1456L;ENSP00000416646:H1285L	ENSP00000262879:H1456L	H	+	2	0	RALGAPB	36636906	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.339000	0.96797	2.257000	0.74773	0.460000	0.39030	CAT		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		14	219	0	0	0	1	0	14	219					T	37203492	A	T	37203492	3	4	432	1	0	0	0	0	1	0	0	0	13015	217	8	5	4481	5	RALGAPB	20	37203492	Missense_Mutation	SNP	A	TCGA-S9-A6WI-01A-21D-A33T-08		37203492	25822028	43	36845											
TPTE	7179	broad.mit.edu	37	chr21	10942732	10942732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaacgtaagtgaggtctaGgtcaaatccatcccttgtgt	10	8	2	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:10942732G>A	ENST00000361285.4	-	13	1038	c.709C>T	c.(709-711)Cta>Tta	p.L237L	TPTE_ENST00000342420.5_Silent_p.L199L|TPTE_ENST00000298232.7_Silent_p.L219L|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGAGGTCTAGGTCAAATCCA	0.323																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(655-657)Cta>Tta		transmembrane phosphatase with tensin homology							491	427	449					21																	10942732		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942732G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.709C>T	21.37:g.10942732G>A						TPTE_ENST00000361285.4_Silent_p.L237L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L199L	p.L219L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	1022	-			237					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.655C>T	CCDS13560.2																																																																																				0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			24	814	0	0	0	1	0	24	814					A	10942732	G	A	10942732	2	1	432	1	0	0	0	0	0	0	0	1	16427	991	35	2		2	TPTE	21	10942732	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		10942732	37187163	44	36846											
DNMT3L	29947	broad.mit.edu	37	chr21	45666374	45666374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtgggccacttggccGcgagcttcgagctctgcttg	15	12	1	0	rs141318231		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:45666374G>A	ENST00000418993.1	-	12	1550	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A357V	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	356					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCACTTGGCCGCGAGCTTCGA	0.507																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(1069-1071)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3-like		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	49	50	50		1070,1067	0.4	0	21	dbSNP_134	50	0,8598		0,0,4299	no	missense,missense	DNMT3L	NM_013369.2,NM_175867.1	64,64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	357/388,356/387	45666374	1,13003	2203	4299	6502	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45666374G>A	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1067C>T	21.37:g.45666374G>A	ENSP00000412862:p.Ala356Val					DNMT3L_ENST00000418993.1_Missense_Mutation_p.A356V	p.A357V	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	12	1553	-			356					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.1070C>T	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.20|10.20	1.284667|1.284667	0.23392|0.23392	2.27E-4|2.27E-4	0.0|0.0	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	D;D|.	0.82893|.	-1.66;-1.66|.	4.17|4.17	0.441|0.441	0.16577|0.16577	.|.	0.521506|.	0.14056|.	U|.	0.344380|.	T|T	0.17577|0.17577	0.0422|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.31435|.	0.323;0.323|.	B;B|.	0.14023|.	0.01;0.01|.	T|T	0.23868|0.23868	-1.0176|-1.0176	10|5	0.44086|.	T|.	0.13|.	-1.353|-1.353	3.4411|3.4411	0.07463|0.07463	0.1547:0.0:0.3735:0.4719|0.1547:0.0:0.3735:0.4719	.|.	357;356|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	V|W	357;356|151	ENSP00000270172:A357V;ENSP00000412862:A356V|.	ENSP00000270172:A357V|.	A|R	-|-	2|1	0|2	DNMT3L|DNMT3L	44490802|44490802	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.215000|0.215000	0.17562|0.17562	0.275000|0.275000	0.22094|0.22094	-0.274000|-0.274000	0.10170|0.10170	GCG|CGG		0.507	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		5	148	0	0	0	1	0	5	148					A	45666374	G	A	45666374	3	1	432	1	0	0	0	0	1	0	0	0	4678	1087	38	1	97	1	DNMT3L	21	45666374	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	34723642	45666374	2463521	45	36847											
RGAG4	340526	broad.mit.edu	37	chrX	71351177	71351177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcgatctcactgagcgCgaactccaagttctcctccg	8	15	2	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:71351177C>T	ENST00000545866.1	-	1	581	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	RGAG4_ENST00000609883.1_Missense_Mutation_p.A72T|NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	72										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCACTGAGCGCGAACTCCAAG	0.597																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(214-216)Gcg>Acg		retrotransposon gag domain containing 4							42	46	45					X																	71351177		1978	4133	6111	SO:0001583	missense	340526							g.chrX:71351177C>T	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.214G>A	X.37:g.71351177C>T	ENSP00000441366:p.Ala72Thr					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.A72T	p.A72T			Q5HYW3	RGAG4_HUMAN			1	581	-	Renal(35;0.156)		72					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.214G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229122	0.39399	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12147	2.71;2.71	4.09	2.24	0.28232	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.21355	N	0.999715	B	0.30634	0.288	B	0.19148	0.024	T	0.40327	-0.9569	8	.	.	.	.	9.2763	0.37700	0.0:0.436:0.564:0.0	.	72	Q5HYW3	RGAG4_HUMAN	T	72	ENSP00000441366:A72T;ENSP00000418667:A72T	.	A	-	1	0	RGAG4	71267902	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	1.169000	0.31871	0.454000	0.26884	-0.281000	0.10026	GCG		0.597	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		9	131	0	0	0	1	0	9	131					T	71351177	C	T	71351177	3	4	432	1	0	0	0	0	1	0	0	0	13275	768	27	1	1499	1	RGAG4	23	71351177	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		71351177	83919383	46	36848											
TBC1D8B	54885	broad.mit.edu	37	chrX	106082571	106082571	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagtctacagagccatctGataattttgaggtgcaatct	9	8	3	4	rs138021287		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:106082571G>T	ENST00000357242.5	+	8	1411	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	413							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGCCATCTGATAATTTTGA	0.378																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1237-1239)Gat>Tat		TBC1 domain family, member 8B (with GRAM domain)							139	131	134					X																	106082571		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106082571G>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1237G>T	X.37:g.106082571G>T	ENSP00000349781:p.Asp413Tyr					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y	p.D413Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			8	1411	+			413					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1237G>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602470	0.28534	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.14516	3.08;2.5;3.04	5.45	3.56	0.40772	.	0.252808	0.38492	N	0.001667	T	0.09598	0.0236	N	0.22421	0.69	0.09310	N	1	P;P	0.39624	0.681;0.667	B;B	0.38921	0.254;0.285	T	0.14839	-1.0458	10	0.51188	T	0.08	-2.5369	9.1723	0.37089	0.0949:0.1606:0.7445:0.0	.	413;413	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	Y	413;413;407	ENSP00000349781:D413Y;ENSP00000310675:D413Y;ENSP00000276175:D407Y	ENSP00000276175:D407Y	D	+	1	0	TBC1D8B	105969227	0.985000	0.35326	0.030000	0.17652	0.097000	0.18754	2.883000	0.48554	1.057000	0.40506	0.513000	0.50165	GAT		0.378	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		22	229	1	0	1.28384e-07	1	1.38573e-07	22	229					T	106082571	G	T	106082571	3	4	432	1	0	0	0	0	1	0	0	0	15623	1290	45	4	1267	4	TBC1D8B	23	106082571	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	34731394	106082571	49187989	47	36849											
HTR2C	3358	broad.mit.edu	37	chrX	114082755	114082755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagattgctattgtttgggCaatttctataggtaaataaa	9	3	1	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:114082755C>T	ENST00000276198.1	+	5	1267	c.539C>T	c.(538-540)gCa>gTa	p.A180V	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	180					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)	ATTGTTTGGGCAATTTCTATA	0.408																																						ENST00000276198.1																			0				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						c.(538-540)gCa>gTa		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						93	79	84					X																	114082755		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114082755C>T		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.539C>T	X.37:g.114082755C>T	ENSP00000276198:p.Ala180Val					HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V	p.A180V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			5	1267	+			180					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.539C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370003	0.11352	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.35048	1.33;1.33	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.068827	0.56097	D	0.000025	T	0.19525	0.0469	N	0.05078	-0.115	0.80722	D	1	B	0.25105	0.118	B	0.33254	0.16	T	0.06463	-1.0825	10	0.06625	T	0.88	.	13.96	0.64172	0.0:1.0:0.0:0.0	.	180	P28335	5HT2C_HUMAN	V	180	ENSP00000276198:A180V;ENSP00000361019:A180V	ENSP00000276198:A180V	A	+	2	0	HTR2C	113989011	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.826000	0.62715	1.863000	0.54032	0.600000	0.82982	GCA		0.408	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		27	155	0	0	0	1	0	27	155					T	114082755	C	T	114082755	3	4	432	1	0	0	0	0	1	0	0	0	7443	710	25	2	549	2	HTR2C	23	114082755	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	8000184	114082755	41187805	48	36850											
AVPR2	554	broad.mit.edu	37	chrX	153171401	153171401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgccgtcccatgctggcGtaccgccatggaagtggggc	14	13	1	0	rs143055328		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:153171401G>A	ENST00000358927.2	+	3	650	c.441G>A	c.(439-441)gcG>gcA	p.A147A	AVPR2_ENST00000337474.5_Silent_p.A147A|AVPR2_ENST00000370049.1_Silent_p.A147A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	147			A -> V (in dbSNP:rs5200).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCATGCTGGCGTACCGCCATG	0.627													G|||	4	0.0010596	0.0	0.0029	3775	,	,		13789	0.0		0.0	False		,,,				2504	0.002					ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(439-441)gcG>gcA		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	G	,	0,3835		0,0,1632,571	72	56	62		441,441	-7.1	0.8	X	dbSNP_134	62	3,6725		0,3,2425,1872	no	coding-synonymous,coding-synonymous	AVPR2	NM_000054.4,NM_001146151.1	,	0,3,4057,2443	AA,AG,GG,G		0.0446,0.0,0.0284	,	147/372,147/310	153171401	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171401G>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.441G>A	X.37:g.153171401G>A						AVPR2_ENST00000370049.1_Silent_p.A147A|AVPR2_ENST00000337474.5_Silent_p.A147A	p.A147A			P30518	V2R_HUMAN			3	650	+	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)		147		A -> V (in dbSNP:rs5200).			C5HF20|O43192|Q3MJD3|Q9UCV9	Silent	SNP	ENST00000358927.2	37	c.441G>A	CCDS14735.1																																																																																				0.627	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			14	159	0	0	0	1	0	14	159					A	153171401	G	A	153171401	2	1	432	1	0	0	0	0	0	0	0	1	1233	1132	40	1		1	AVPR2	23	153171401	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	39088646	153171401	2099159	49	36851											
EPHA8	2046	broad.mit.edu	37	chr1	22903061	22903061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagctcaacacggaggtgCgcagtgtgggtcccctcagc	13	13	3	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:22903061C>T	ENST00000166244.3	+	3	583	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C|EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	171	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R171C(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGGAGGTGCGCAGTGTGGG	0.582																																						ENST00000166244.3																			2	Substitution - Missense(2)	p.R171C(2)	large_intestine(2)	breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(511-513)Cgc>Tgc		EPH receptor A8							91	80	83					1																	22903061		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903061C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.511C>T	1.37:g.22903061C>T	ENSP00000166244:p.Arg171Cys					EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C|EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C	p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	583	+		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)	171					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.511C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433318	0.62844	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.11063	2.81;2.81;2.81	4.07	4.07	0.47477	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.29389	0.0732	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01545	-1.1328	10	0.62326	D	0.03	.	9.2471	0.37532	0.3343:0.6657:0.0:0.0	.	171;171	P29322;P29322-2	EPHA8_HUMAN;.	C	171	ENSP00000166244:R171C;ENSP00000363775:R171C;ENSP00000440274:R171C	ENSP00000166244:R171C	R	+	1	0	EPHA8	22775648	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.402000	0.44521	2.097000	0.63578	0.442000	0.29010	CGC		0.582	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	48	0	0	0	1	0	4	48					T	22903061	C	T	22903061	3	4	433	1	0	0	0	0	1	0	0	0	5173	768	27	1	521	1	EPHA8	1	22903061	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		22903061	226347560	1	36852											
BCL9	607	broad.mit.edu	37	chr1	147092748	147092748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccatcacttcctgccccGtcacctggatggacctcttc	6	18	4	0	rs202240134		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:147092748G>A	ENST00000234739.3	+	8	3527	c.2787G>A	c.(2785-2787)ccG>ccA	p.P929P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	929	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)		p.P929P(2)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCTGCCCCGTCACCTGGAT	0.597			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		2	Substitution - coding silent(2)	p.P929P(2)	upper_aerodigestive_tract(2)	breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2785-2787)ccG>ccA		B-cell CLL/lymphoma 9		G		1,4405	2.1+/-5.4	0,1,2202	107	105	106		2787	-11.1	0.5	1		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCL9	NM_004326.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		929/1427	147092748	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092748G>A	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.2787G>A	1.37:g.147092748G>A							p.P929P	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3527	+	all_hematologic(923;0.115)		929			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.2787G>A	CCDS30833.1																																																																																				0.597	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	197	0	0	0	1	0	4	197					A	147092748	G	A	147092748	2	1	433	1	0	0	0	0	0	0	0	1	1381	1132	40	1		1	BCL9	1	147092748	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	124189687	147092748	102157873	2	36853											
ARNT	405	broad.mit.edu	37	chr1	150801696	150801696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtacagttgggagaaCtagttacctgagagtgaaga	13	5	1	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:150801696C>G	ENST00000358595.5	-	12	1240	c.1040G>C	c.(1039-1041)aGt>aCt	p.S347T	ARNT_ENST00000515192.1_Missense_Mutation_p.S333T|ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T|ARNT_ENST00000468970.1_5'Flank	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	347					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)			GTTGGGAGAACTAGTTACCTG	0.383			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1039-1041)aGt>aCt		aryl hydrocarbon receptor nuclear translocator							148	137	141					1																	150801696		2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150801696C>G	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.1040G>C	1.37:g.150801696C>G	ENSP00000351407:p.Ser347Thr					ARNT_ENST00000515192.1_Missense_Mutation_p.S333T|ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T	p.S347T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1240	-	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)		347					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1040G>C	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682314	0.68042	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05513	3.54;3.54;3.58;3.43	5.28	5.28	0.74379	.	3.924840	0.01135	N	0.006079	T	0.06690	0.0171	L	0.58302	1.8	0.80722	D	1	P;P;B;B;B;B;B	0.37914	0.469;0.611;0.258;0.011;0.011;0.024;0.258	B;B;B;B;B;B;B	0.35550	0.205;0.135;0.135;0.023;0.023;0.023;0.085	T	0.49799	-0.8901	10	0.40728	T	0.16	.	18.9089	0.92474	0.0:1.0:0.0:0.0	.	331;347;332;347;333;332;347	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	T	347;347;347;333;331;332	ENSP00000351407:S347T;ENSP00000346372:S347T;ENSP00000423851:S333T;ENSP00000427571:S332T	ENSP00000346372:S347T	S	-	2	0	ARNT	149068320	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.473000	0.83533	0.655000	0.94253	AGT		0.383	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			7	172	0	0	0	1	0	7	172					G	150801696	C	G	150801696	3	3	433	1	0	0	0	0	1	0	0	0	965	565	20	4	1373	4	ARNT	1	150801696	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	3708948	150801696	98448925	3	36854											
TCHHL1	126637	broad.mit.edu	37	chr1	152058921	152058921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttccaggactagtggccGagtttttctgtcacgttctt	11	9	3	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:152058921G>A	ENST00000368806.1	-	3	1301	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	413							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)			ACTAGTGGCCGAGTTTTTCTG	0.443																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1237-1239)Cgg>Tgg		trichohyalin-like 1							133	129	131					1																	152058921		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058921G>A		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.1237C>T	1.37:g.152058921G>A	ENSP00000357796:p.Arg413Trp						p.R413W	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1301	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		413					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1237C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532747	0.45073	.	.	ENSG00000182898	ENST00000368806	T	0.25579	1.79	5.59	3.59	0.41128	.	0.196189	0.25358	N	0.031248	T	0.06600	0.0169	L	0.29908	0.895	0.09310	N	1	P	0.48589	0.912	B	0.33799	0.17	T	0.08827	-1.0703	10	0.72032	D	0.01	-0.0043	10.6862	0.45843	0.0:0.0:0.6545:0.3455	.	413	Q5QJ38	TCHL1_HUMAN	W	413	ENSP00000357796:R413W	ENSP00000357796:R413W	R	-	1	2	TCHHL1	150325545	0.002000	0.14202	0.003000	0.11579	0.128000	0.20619	0.932000	0.28884	1.342000	0.45619	0.650000	0.86243	CGG		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		15	321	0	0	0	1	0	15	321					A	152058921	G	A	152058921	3	1	433	1	0	0	0	0	1	0	0	0	15698	1057	37	1	1481	1	TCHHL1	1	152058921	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1257225	152058921	97191700	4	36855											
PKLR	5313	broad.mit.edu	37	chr1	155269925	155269925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtactgcgagcagccaCgggctcggagtcaatgtcca	14	12	1	0	rs368492204		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:155269925C>T	ENST00000342741.4	-	2	285	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	PKLR_ENST00000392414.3_Missense_Mutation_p.V52M	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	83					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGAGCAGCCACGGGCTCGGAG	0.582																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(154-156)Gtg>Atg		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	69	68	68		247,154	1	0.8	1		68	0,8600		0,0,4300	no	missense,missense	PKLR	NM_000298.5,NM_181871.3	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	83/575,52/544	155269925	1,13005	2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155269925C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.247G>A	1.37:g.155269925C>T	ENSP00000339933:p.Val83Met					PKLR_ENST00000342741.4_Missense_Mutation_p.V83M	p.V52M	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	267	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		83		Missing (in PKRD).			O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.154G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978888	0.18812	2.27E-4	0.0	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99797	-6.79;-6.79	4.02	0.963	0.19649	Pyruvate/Phosphoenolpyruvate kinase (1);	0.140048	0.48767	D	0.000171	D	0.96266	0.8782	N	0.22421	0.69	0.26349	N	0.977239	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	D	0.97807	1.0248	10	0.39692	T	0.17	-12.7966	3.449	0.07491	0.1814:0.5189:0.0:0.2997	.	83;74	P30613;B1AVT1	KPYR_HUMAN;.	M	108;52;83;19	ENSP00000376214:V52M;ENSP00000339933:V83M	ENSP00000271946:V19M	V	-	1	0	PKLR	153536549	0.845000	0.29573	0.793000	0.32043	0.477000	0.33069	1.465000	0.35299	0.336000	0.23639	-0.233000	0.12211	GTG		0.582	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		7	130	0	0	0	1	0	7	130					T	155269925	C	T	155269925	3	4	433	1	0	0	0	0	1	0	0	0	11976	536	19	1	1517	1	PKLR	1	155269925	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	3211004	155269925	93980696	5	36856											
HMCN1	83872	broad.mit.edu	37	chr1	185970471	185970471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaagttacaaatgtgTcggtgttgttaaatcagctg	10	5	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:185970471T>C	ENST00000271588.4	+	27	4340	c.4111T>C	c.(4111-4113)Tcg>Ccg	p.S1371P	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1371	Ig-like C2-type 11.				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						TACAAATGTGTCGGTGTTGTT	0.348																																						ENST00000271588.4																			0				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						c.(4111-4113)Tcg>Ccg		hemicentin 1							97	95	96					1																	185970471		2202	4300	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185970471T>C	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.4111T>C	1.37:g.185970471T>C	ENSP00000271588:p.Ser1371Pro					HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			27	4340	+			1371			Ig-like C2-type 11.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4111T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905488	0.72868	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055141	0.85682	D	0.000000	T	0.82157	0.4976	M	0.81942	2.565	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	T	0.82647	-0.0354	10	0.41790	T	0.15	.	15.9967	0.80256	0.0:0.0:0.0:1.0	.	1371	Q96RW7	HMCN1_HUMAN	P	1371	ENSP00000271588:S1371P;ENSP00000356462:S1371P	ENSP00000271588:S1371P	S	+	1	0	HMCN1	184237094	1.000000	0.71417	0.994000	0.49952	0.865000	0.49528	4.101000	0.57769	2.181000	0.69327	0.477000	0.44152	TCG		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		47	55	0	0	0	1	0	47	55					C	185970471	T	C	185970471	3	2	433	1	0	0	0	0	1	0	0	0	7220	1667	58	3	4217	3	HMCN1	1	185970471	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	30700546	185970471	63280150	6	36857											
TMEM183A	92703	broad.mit.edu	37	chr1	202992124	202992125	+	Frame_Shift_Del	DEL	TT	TT	-													cagtgcacagcgttcggctcTttgactggtggcatcctcag							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:202992124_202992125delTT	ENST00000367242.3	+	8	1167_1168	c.1087_1088delTT	c.(1087-1089)tttfs	p.F363fs		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	363						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CGTTCGGCTCTTTGACTGGTGG	0.545																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(1087-1089)tfs		transmembrane protein 183A																																				SO:0001589	frameshift_variant	92703							g.chr1:202992124_202992125delTT	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.1087_1088delTT	1.37:g.202992124_202992125delTT	ENSP00000356211:p.Phe363fs						p.F363fs	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			BRCA - Breast invasive adenocarcinoma(75;0.18)		8	1167_1168	+								A8K5W1|Q6NW15|Q96E06	Frame_Shift_Del	DEL	ENST00000367242.3	37	c.1087_1088delTT	CCDS1432.1																																																																																				0.545	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		12	96						12	96	---	---	---	---	-	202992125	TT	-	202992124	7	5	433	1	0	1	0	1	0	0	0	0	16099	1609	56	0	1117	0	TMEM183A	1	202992124	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WL-01A-21D-A33T-08	17021653	202992124	46258497	7	36858											
ARID4B	51742	broad.mit.edu	37	chr1	235345318	235345319	+	Frame_Shift_Del	DEL	CA	CA	-													gaacaactctcctcttcagcCacagtctgcagtgactcctc							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:235345318_235345319delCA	ENST00000264183.3	-	20	3412_3413	c.2915_2916delTG	c.(2914-2916)gtgfs	p.V972fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	972					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTCTTCAGCCACAGTCTGCAG	0.5																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2914-2916)gfs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345318_235345319delCA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2915_2916delTG	1.37:g.235345320_235345321delCA	ENSP00000264183:p.Val972fs					ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs	p.V972fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3412_3413	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	972					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2915_2916delTG	CCDS31061.1																																																																																				0.5	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		104	226						104	226	---	---	---	---	-	235345319	CA	-	235345318	7	5	433	1	0	1	0	1	0	0	0	0	920	581	21	0	1042	0	ARID4B	1	235345318	Frame_Shift_Del	DEL	CA	TCGA-S9-A6WL-01A-21D-A33T-08	32353194	235345318	13905303	8	36859											
HEATR5B	54497	broad.mit.edu	37	chr2	37241030	37241033	+	Frame_Shift_Del	DEL	CTCT	CTCT	-													gtttttccatggtcgtggcaCtctctcggtacagctggctg							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:37241030_37241033delCTCT	ENST00000233099.5	-	27	4330_4333	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1412						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)				GGTCGTGGCACTCTCTCGGTACAG	0.451																																						ENST00000233099.5																			0				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						c.(4234-4239)gtfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37241030_37241033delCTCT	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.4235_4238delAGAG	2.37:g.37241030_37241033delCTCT	ENSP00000233099:p.Glu1412fs					HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			27	4330_4333	-		all_hematologic(82;0.21)	1412					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Del	DEL	ENST00000233099.5	37	c.4235_4238delAGAG	CCDS33181.1																																																																																				0.451	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		74	187						74	187	---	---	---	---	-	37241033	CTCT	-	37241030	7	5	433	1	0	1	0	1	0	0	0	0	7032	565	20	0	2017	0	HEATR5B	2	37241030	Frame_Shift_Del	DEL	CTCT	TCGA-S9-A6WL-01A-21D-A33T-08		37241030	205958343	9	36860											
SLC8A1	6546	broad.mit.edu	37	chr2	40405554	40405554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcatctccaccaggcGgggctctccaatctcaagga	8	16	5	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:40405554G>A	ENST00000403092.1	-	3	1921	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	630					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCAGGCGGGGCTCTCCA	0.498																																						ENST00000542756.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1888-1890)Cgc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						186	190	189					2																	40405554		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40405554G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1888C>T	2.37:g.40405554G>A	ENSP00000384763:p.Arg630Cys					SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA	p.R630C			P32418	NAC1_HUMAN			3	1911	-			630					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1888C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035710	0.54896	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.39	4.51	0.55191	.	0.231527	0.41500	D	0.000864	T	0.26846	0.0657	L	0.40543	1.245	0.80722	D	1	D;P	0.55605	0.972;0.951	B;B	0.42827	0.399;0.167	T	0.02603	-1.1135	10	0.45353	T	0.12	.	11.9299	0.52841	0.0847:0.0:0.9153:0.0	.	630;630	F6VPY9;P32418	.;NAC1_HUMAN	C	630	ENSP00000440727:R630C;ENSP00000384763:R630C;ENSP00000385678:R630C;ENSP00000332931:R630C	ENSP00000332931:R630C	R	-	1	0	SLC8A1	40259058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.172000	0.71932	1.266000	0.44231	0.591000	0.81541	CGC		0.498	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		44	393	0	0	0	1	0	44	393					A	40405554	G	A	40405554	3	1	433	1	0	0	0	0	1	0	0	0	14706	1116	39	1	1177	1	SLC8A1	2	40405554	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3164524	40405554	202793819	10	36861											
INO80B	83444	broad.mit.edu	37	chr2	74683365	74683367	+	In_Frame_Del	DEL	AGG	AGG	-													tgacaatggagacctcaagaAggagatcaatgagcggctgc							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:74683365_74683367delAGG	ENST00000233331.7	+	4	600_602	c.506_508delAGG	c.(505-510)aaggag>aag	p.E170del	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank|INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_In_Frame_Del_p.E170del|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	170					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GACCTCAAGAAGGAGATCAATGA	0.517																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(505-510)aag>a		INO80 complex subunit B																																				SO:0001651	inframe_deletion	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74683365_74683367delAGG	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.506_508delAGG	2.37:g.74683365_74683367delAGG	ENSP00000233331:p.Glu170del					INO80B_ENST00000409917.1_In_Frame_Del_p.KE169del|INO80B_ENST00000469849.1_3'UTR	p.KE169del	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			4	600_602	+			169						In_Frame_Del	DEL	ENST00000233331.7	37	c.506_508delAGG	CCDS1942.2																																																																																				0.517	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		10	139						10	139	---	---	---	---	-	74683367	AGG	-	74683365	7	5	433	1	0	1	0	1	0	0	0	0	7747	72	3	0	520	0	INO80B	2	74683365	In_Frame_Del	DEL	AGG	TCGA-S9-A6WL-01A-21D-A33T-08	34277811	74683365	168516008	11	36862											
IL1B	3553	broad.mit.edu	37	chr2	113591112	113591112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagattcgtagctggatgCcgccatccagagggcagagg	16	10	0	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:113591112C>T	ENST00000263341.2	-	4	350	c.140G>A	c.(139-141)gGc>gAc	p.G47D	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|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 lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|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)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TAGCTGGATGCCGCCATCCAG	0.612																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(139-141)gGc>gAc		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						90	85	87					2																	113591112		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591112C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.140G>A	2.37:g.113591112C>T	ENSP00000263341:p.Gly47Asp					IL1B_ENST00000491056.1_5'UTR	p.G47D	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			4	350	-			47					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.140G>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797577	0.31777	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.72	3.84	0.44239	Interleukin-1 propeptide (1);	0.608009	0.19187	N	0.120512	T	0.39253	0.1071	L	0.55103	1.725	0.30122	N	0.805631	P	0.44044	0.825	B	0.42625	0.393	T	0.43605	-0.9381	10	0.52906	T	0.07	-10.4574	8.9932	0.36037	0.0:0.8989:0.0:0.1011	.	47	P01584	IL1B_HUMAN	D	47	ENSP00000263341:G47D;ENSP00000407219:G47D;ENSP00000409680:G47D;ENSP00000400854:G47D	ENSP00000263341:G47D	G	-	2	0	IL1B	113307583	0.070000	0.21116	0.698000	0.30274	0.259000	0.26198	0.082000	0.14847	1.361000	0.45981	0.555000	0.69702	GGC		0.612	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		5	150	0	0	0	1	0	5	150					T	113591112	C	T	113591112	3	4	433	1	0	0	0	0	1	0	0	0	7651	739	26	2	685	2	IL1B	2	113591112	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	38907747	113591112	129608261	12	36863											
INSIG2	51141	broad.mit.edu	37	chr2	118865866	118865867	+	Frame_Shift_Del	DEL	AA	AA	-													aatttttgcagtacgaatgtAaagttatcgcagaaaaatct							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:118865866_118865867delAA	ENST00000245787.4	+	6	852_853	c.646_647delAA	c.(646-648)aaafs	p.K216fs	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	216					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTACGAATGTAAAGTTATCGCA	0.302																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(646-648)afs		insulin induced gene 2																																				SO:0001589	frameshift_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118865866_118865867delAA	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.646_647delAA	2.37:g.118865866_118865867delAA	ENSP00000245787:p.Lys216fs					INSIG2_ENST00000485520.1_3'UTR	p.K216fs	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN			6	852_853	+			216					A8K5W8|Q8TBI8	Frame_Shift_Del	DEL	ENST00000245787.4	37	c.646_647delAA	CCDS2122.1																																																																																				0.302	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		15	161						15	161	---	---	---	---	-	118865867	AA	-	118865866	7	5	433	1	0	1	0	1	0	0	0	0	7766	363	13	0	664	0	INSIG2	2	118865866	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WL-01A-21D-A33T-08	5274754	118865866	124333507	13	36864											
AGPS	8540	broad.mit.edu	37	chr2	178402897	178402897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgtggaccccaataacAtctttggaaacagaaacctt	6	9	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:178402897A>G	ENST00000264167.4	+	20	2097	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	651					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CCCCAATAACATCTTTGGAAA	0.353																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1951-1953)Atc>Gtc		alkylglycerone phosphate synthase							116	115	115					2																	178402897		2203	4300	6503	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402897A>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1951A>G	2.37:g.178402897A>G	ENSP00000264167:p.Ile651Val					AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	p.I651V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	2097	+			651					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.1951A>G	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272184	0.59649	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	D;D	0.89617	-2.54;-2.54	5.95	5.95	0.96441	Vanillyl-alcohol oxidase, C-terminal subdomain 2 (1);FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.043515	0.85682	D	0.000000	D	0.88198	0.6372	L	0.41415	1.275	0.53005	D	0.99996	B	0.25235	0.121	B	0.38616	0.277	D	0.85001	0.0900	10	0.39692	T	0.17	.	16.397	0.83610	1.0:0.0:0.0:0.0	.	651	O00116	ADAS_HUMAN	V	651;182	ENSP00000264167:I651V;ENSP00000386688:I182V	ENSP00000264167:I651V	I	+	1	0	AGPS	178111143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.275000	0.75901	0.459000	0.35465	ATC		0.353	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			7	256	0	0	0	1	0	7	256					G	178402897	A	G	178402897	3	3	433	1	0	0	0	0	1	0	0	0	394	217	8	3	2029	3	AGPS	2	178402897	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	59537031	178402897	64796476	14	36865											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			70	108	0	0	0	1	0	70	108					T	209113112	C	T	209113112	3	4	433	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	30710215	209113112	34086261	15	36866											
MAP2	4133	broad.mit.edu	37	chr2	210574671	210574671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcagagcagggaagagtgGtacctcaacacccactaccc	10	14	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:210574671G>A	ENST00000360351.4	+	12	5272	c.4766G>A	c.(4765-4767)gGt>gAt	p.G1589D	MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.G233D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1589					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)	GGGAAGAGTGGTACCTCAACA	0.517																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				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						c.(4765-4767)gGt>gAt		microtubule-associated protein 2	Estramustine(DB01196)						120	103	109					2																	210574671		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574671G>A		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.4766G>A	2.37:g.210574671G>A	ENSP00000353508:p.Gly1589Asp					MAP2_ENST00000392194.1_Missense_Mutation_p.G233D|MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D	p.G1589D	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		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)	12	5272	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1589					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4766G>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825920	0.50739	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.25250	1.81;3.07;2.21;2.21;3.07	5.44	4.56	0.56223	.	0.000000	0.64402	D	0.000011	T	0.40862	0.1134	L	0.34521	1.04	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	0.97110	1.0;0.962;0.996;0.999;1.0	T	0.30909	-0.9962	10	0.54805	T	0.06	-13.4992	15.8768	0.79170	0.0:0.0:0.8633:0.1367	.	1585;233;234;1589;290	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	D	290;1589;233;233;1585	ENSP00000199940:G290D;ENSP00000353508:G1589D;ENSP00000355290:G233D;ENSP00000376032:G233D;ENSP00000392164:G1585D	ENSP00000199940:G290D	G	+	2	0	MAP2	210282916	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	9.346000	0.97056	1.397000	0.46682	-0.182000	0.12963	GGT		0.517	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		48	73	0	0	0	1	0	48	73					A	210574671	G	A	210574671	3	1	433	1	0	0	0	0	1	0	0	0	9235	1261	44	2	4975	2	MAP2	2	210574671	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1461559	210574671	32624702	16	36867											
ERBB4	2066	broad.mit.edu	37	chr2	212578296	212578296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaggtttacacatttTaatcccattttcttctactt	4	9	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:212578296T>C	ENST00000342788.4	-	8	1271	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E|ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	321	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTACACATTTTAATCCCATTT	0.363										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(961-963)Aaa>Gaa		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							135	131	132					2																	212578296		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212578296T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.961A>G	2.37:g.212578296T>C	ENSP00000342235:p.Lys321Glu	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E|ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E	p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	8	1271	-		Renal(323;0.06)|Lung NSC(271;0.197)	321			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.961A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.884815	0.72410	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.84146	-1.81;-1.81;-1.81	5.57	5.57	0.84162	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	M	0.73962	2.25	0.80722	D	1	D;P;D;D;D	0.67145	0.995;0.799;0.995;0.995;0.996	D;B;D;D;D	0.74674	0.97;0.405;0.914;0.97;0.984	D	0.92682	0.6159	10	0.72032	D	0.01	.	15.7821	0.78269	0.0:0.0:0.0:1.0	.	321;321;180;321;321	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	E	321	ENSP00000342235:K321E;ENSP00000403204:K321E;ENSP00000385565:K321E	ENSP00000342235:K321E	K	-	1	0	ERBB4	212286541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.037000	0.88933	2.129000	0.65627	0.529000	0.55759	AAA		0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		52	58	0	0	0	1	0	52	58					C	212578296	T	C	212578296	3	2	433	1	0	0	0	0	1	0	0	0	5209	1763	61	3	3049	3	ERBB4	2	212578296	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2003625	212578296	30621077	17	36868											
ZNF142	7701	broad.mit.edu	37	chr2	219507566	219507566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggggatgcggccaaTgcctgtgtgtcgggactggt	18	9	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:219507566T>C	ENST00000449707.1	-	8	4094	c.3673A>G	c.(3673-3675)Att>Gtt	p.I1225V	ZNF142_ENST00000411696.2_Missense_Mutation_p.I1225V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1225					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGCGGCCAATGCCTGTGTGT	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3673-3675)Att>Gtt		zinc finger protein 142							92	104	100					2																	219507566		2137	4232	6369	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507566T>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3673A>G	2.37:g.219507566T>C	ENSP00000408643:p.Ile1225Val					ZNF142_ENST00000449707.1_Missense_Mutation_p.I1225V	p.I1225V			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4452	-		Renal(207;0.0474)	1225					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3673A>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	7.751	0.703254	0.15172	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.59906	0.23;0.23	5.44	3.59	0.41128	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.180851	0.48767	N	0.000171	T	0.32496	0.0831	N	0.11023	0.085	0.22378	N	0.999156	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14952	-1.0454	10	0.06625	T	0.88	-13.565	11.7238	0.51698	0.0:0.8572:0.0:0.1428	.	1225;1062	P52746;A8MWU9	ZN142_HUMAN;.	V	1225	ENSP00000408643:I1225V;ENSP00000398798:I1225V	ENSP00000398798:I1225V	I	-	1	0	ZNF142	219215810	0.375000	0.25089	0.916000	0.36221	0.941000	0.58515	1.047000	0.30367	0.861000	0.35504	-0.177000	0.13119	ATT		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		81	147	0	0	0	1	0	81	147					C	219507566	T	C	219507566	3	2	433	1	0	0	0	0	1	0	0	0	17728	1464	51	3	1402	3	ZNF142	2	219507566	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	6929270	219507566	23691807	18	36869											
ITM2C	81618	broad.mit.edu	37	chr2	231729747	231729747	+	Frame_Shift_Del	DEL	A	A	-													gggccggcgcagccatggtgAagattagcttccagcccgcc							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:231729747delA	ENST00000326427.6	+	1	133	c.7delA	c.(7-9)aagfs	p.K3fs	ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000409704.2_5'Flank	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	3					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCCATGGTGAAGATTAGCTT	0.716																																						ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(7-9)agfs		integral membrane protein 2C							6	7	7					2																	231729747		2104	4159	6263	SO:0001589	frameshift_variant	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231729747delA	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"BRICHOS domain containing"	6175	protein-coding gene	gene with protein product	"BRICHOS domain containing 2C"	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.7delA	2.37:g.231729747delA	ENSP00000322730:p.Lys3fs					ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs	p.K3fs	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	1	133	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	3					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Frame_Shift_Del	DEL	ENST00000326427.6	37	c.7delA	CCDS2479.1																																																																																				0.716	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		2	4						2	4	---	---	---	---	-	231729747	A	-	231729747	7	5	433	1	0	1	0	1	0	0	0	0	7914	247	9	0	9	0	ITM2C	2	231729747	Frame_Shift_Del	DEL	A	TCGA-S9-A6WL-01A-21D-A33T-08	12222181	231729747	11469626	19	36870											
ALPI	248	broad.mit.edu	37	chr2	233322995	233322995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactgaggcggtcatgttcGacgacgccattgagagggcg	15	10	2	2	rs151137290		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:233322995G>A	ENST00000295463.3	+	9	1137	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	354					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.D354N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCATGTTCGACGACGCCAT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.001					ENST00000295463.3																			1	Substitution - Missense(1)	p.D354N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1060-1062)Gac>Aac		alkaline phosphatase, intestinal		G	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	83	74	77		1060	3.6	0	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	ALPI	NM_001631.3	23	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	354/529	233322995	3,13003	2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322995G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1060G>A	2.37:g.233322995G>A	ENSP00000295463:p.Asp354Asn						p.D354N	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	9	1137	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	354					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.1060G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278894	0.80692	6.81E-4	0.0	ENSG00000163295	ENST00000295463	D	0.98075	-4.7	4.46	3.58	0.41010	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.89030	3	0.52099	D	0.999945	D	0.89917	1.0	D	0.79784	0.993	D	0.99177	1.0866	10	0.87932	D	0	.	11.3549	0.49609	0.0877:0.0:0.9123:0.0	.	354	P09923	PPBI_HUMAN	N	354	ENSP00000295463:D354N	ENSP00000295463:D354N	D	+	1	0	ALPI	233031239	1.000000	0.71417	0.020000	0.16555	0.006000	0.05464	7.763000	0.85283	1.105000	0.41606	0.561000	0.74099	GAC		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		30	75	0	0	0	1	0	30	75					A	233322995	G	A	233322995	3	1	433	1	0	0	0	0	1	0	0	0	543	1058	37	1	1094	1	ALPI	2	233322995	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1593248	233322995	9876378	20	36871											
LRTM1	57408	broad.mit.edu	37	chr3	54952872	54952872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctaaggaggtcctttcCcttccaggtgtctggtgatt	11	10	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:54952872C>T	ENST00000273286.5	-	3	814	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	218	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517																																						ENST00000273286.5																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21						c.(652-654)Gga>Aga		leucine-rich repeats and transmembrane domains 1							55	50	52					3																	54952872		2203	4300	6503	SO:0001583	missense	57408					integral to membrane		g.chr3:54952872C>T	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.652G>A	3.37:g.54952872C>T	ENSP00000273286:p.Gly218Arg					CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000474759.1_Intron	p.G218R	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	814	-			218			LRRCT.		Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	c.652G>A	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639665	0.87760	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.58060	4.16;0.36	6.07	6.07	0.98685	Cysteine-rich flanking region, C-terminal (1);	0.155522	0.64402	D	0.000020	T	0.80042	0.4551	M	0.92507	3.315	0.48975	D	0.999731	D	0.89917	1.0	D	0.74023	0.982	D	0.83733	0.0199	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	218	Q9HBL6	LRTM1_HUMAN	R	218;142	ENSP00000273286:G218R;ENSP00000419772:G142R	ENSP00000273286:G218R	G	-	1	0	LRTM1	54927912	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.408000	0.59761	2.884000	0.98904	0.655000	0.94253	GGA		0.517	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		4	93	0	0	0	1	0	4	93					T	54952872	C	T	54952872	3	4	433	1	0	0	0	0	1	0	0	0	9044	632	22	2	389	2	LRTM1	3	54952872	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		54952872	143069558	21	36872											
ZBTB20	26137	broad.mit.edu	37	chr3	114058228	114058230	+	In_Frame_Del	DEL	AAG	AAG	-													gcttgataaggtaatcctttAaggagaaggagcgccaacag							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:114058228_114058230delAAG	ENST00000474710.1	-	5	2026_2028	c.1848_1850delCTT	c.(1846-1851)tcctta>tca	p.L617del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.L544del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.L544del|ZBTB20_ENST00000462705.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.L544del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	617						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAATCCTTTAAGGAGAAGGAGC	0.507																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1627-1632)tca>tc		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058228_114058230delAAG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1848_1850delCTT	3.37:g.114058228_114058230delAAG	ENSP00000419153:p.Leu617del					ZBTB20_ENST00000393785.2_In_Frame_Del_p.SL543del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.SL616del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.SL543del	p.SL543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2450_2452	-			616	S -> F (in Ref. 5; AAH29041).				Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.1629_1631delCTT	CCDS54626.1																																																																																				0.507	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		59	93						59	93	---	---	---	---	-	114058230	AAG	-	114058228	7	5	433	1	0	1	0	1	0	0	0	0	17526	372	13	0	379	0	ZBTB20	3	114058228	In_Frame_Del	DEL	AAG	TCGA-S9-A6WL-01A-21D-A33T-08	59105356	114058228	83964202	22	36873											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	14	9	0	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					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						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				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						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132	121	125					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	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	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	230	0	0	0	1	0	5	230					T	124418865	C	T	124418865	4	4	433	1	0	0	0	0	0	1	0	0	7975	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10360637	124418865	73603565	23	36874											
PLXND1	23129	broad.mit.edu	37	chr3	129291460	129291460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggcttacatcagctcCgtgcaggggtctgtgtcgtt	13	11	2	1	rs561945149		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:129291460C>T	ENST00000324093.4	-	15	3247	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	PLXND1_ENST00000393239.1_Silent_p.T1023T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1023	IPT/TIG 2.				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						ACATCAGCTCCGTGCAGGGGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18112	0.001		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				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						c.(3067-3069)acG>acA		plexin D1							39	35	36					3																	129291460		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129291460C>T	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.3069G>A	3.37:g.129291460C>T						PLXND1_ENST00000324093.4_Silent_p.T1023T	p.T1023T			Q9Y4D7	PLXD1_HUMAN			15	3247	-			1023			IPT/TIG 2.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3069G>A	CCDS33854.1																																																																																				0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	11	0	0	0	1	0	5	11					T	129291460	C	T	129291460	2	4	433	1	0	0	0	0	0	0	0	1	12127	639	23	1		1	PLXND1	3	129291460	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	4872595	129291460	68730970	24	36875											
EPHB1	2047	broad.mit.edu	37	chr3	134967317	134967317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagatgatccggaacccgGcaagtctcaagactgtggca	11	10	1	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:134967317G>A	ENST00000398015.3	+	14	3026	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	886					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						CCGGAACCCGGCAAGTCTCAA	0.552																																						ENST00000398015.3																			0				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						c.(2656-2658)Gca>Aca		EPH receptor B1							22	26	25					3																	134967317		2162	4287	6449	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967317G>A	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.2656G>A	3.37:g.134967317G>A	ENSP00000381097:p.Ala886Thr					EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	p.A886T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			14	3026	+			886					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2656G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670655	0.67814	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62232	0.04;0.04	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.114641	0.64402	D	0.000013	T	0.62925	0.2468	M	0.64997	1.995	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.56245	-0.8011	10	0.35671	T	0.21	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	886	P54762	EPHB1_HUMAN	T	886;447	ENSP00000381097:A886T;ENSP00000419574:A447T	ENSP00000381097:A886T	A	+	1	0	EPHB1	136450007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.360000	0.59455	2.941000	0.99782	0.655000	0.94253	GCA		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		3	53	0	0	0	1	0	3	53					A	134967317	G	A	134967317	3	1	433	1	0	0	0	0	1	0	0	0	5174	1203	42	2	2710	2	EPHB1	3	134967317	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	5675857	134967317	63055113	25	36876											
SR140	23350	broad.mit.edu	37	chr3	142741380	142741380	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaatttggaagatttggAccgttagccagtgtgaaaat	11	5	0	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:142741380A>C	ENST00000473835.2	+	11	984	c.894A>C	c.(892-894)ggA>ggC	p.G298G	U2SURP_ENST00000493598.2_Silent_p.G297G|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	298	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAGATTTGGACCGTTAGCCA	0.353																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(892-894)ggA>ggC		U2 snRNP-associated SURP domain containing							114	111	112					3																	142741380		1810	4076	5886	SO:0001819	synonymous_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741380A>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.894A>C	3.37:g.142741380A>C						U2SURP_ENST00000493598.2_Silent_p.G297G|U2SURP_ENST00000397933.2_5'UTR	p.G298G	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			11	984	+			298			RRM.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	c.894A>C	CCDS46928.1																																																																																				0.353	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		19	131	0	0	0	1	0	19	131					C	142741380	A	C	142741380	2	2	433	1	0	0	0	0	0	0	0	1	15130	262	10	5		5	SR140	3	142741380	Silent	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	7774063	142741380	55281050	26	36877											
LMLN	89782	broad.mit.edu	37	chr3	197702982	197702982	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcactatcttacttagcaGgtatgtcacatgaaacacag	9	9	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:197702982G>A	ENST00000330198.4	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	LMLN_ENST00000332636.5_Splice_Site_p.R92K|LMLN_ENST00000420910.2_Splice_Site_p.R144K|LMLN_ENST00000482695.1_Splice_Site_p.R92K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	144					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)		TTACTTAGCAGGTATGTCACA	0.373																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.e4+1		leishmanolysin-like (metallopeptidase M8 family)							57	55	56					3																	197702982		2203	4300	6503	SO:0001630	splice_region_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197702982G>A	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.431+1G>A	3.37:g.197702982G>A						LMLN_ENST00000482695.1_Splice_Site_p.R92_splice|LMLN_ENST00000420910.2_Splice_Site_p.R144_splice|LMLN_ENST00000332636.5_Splice_Site_p.R92_splice	p.R144_splice	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	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)	4	453	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	144					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Splice_Site	SNP	ENST00000330198.4	37	c.431_splice	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235898	0.95240	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.85130	0.997;0.989;0.991;0.99	T	0.57412	-0.7816	10	0.39692	T	0.17	-24.7154	15.0733	0.72056	0.0:0.0:1.0:0.0	.	144;92;144;92	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	K	92;144;72;144;92	ENSP00000418324:R92K;ENSP00000328829:R144K;ENSP00000390872:R72K;ENSP00000410926:R144K;ENSP00000328611:R92K	ENSP00000328829:R144K	R	+	2	0	LMLN	199187379	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.305000	0.89960	2.937000	0.99478	0.650000	0.86243	AGA		0.373	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	Missense_Mutation	3	87	0	0	0	1	0	3	87					A	197702982	G	A	197702982	5	1	433	1	0	0	0	0	0	0	1	0	8847	1014	35	2	445	2	LMLN	3	197702982	Splice_Site	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	54961602	197702982	319448	27	36878											
RBPJ	3516	broad.mit.edu	37	chr4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-													aatcgactacgatcccagacAgttagtaccagatacttgca							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:26426019_26426022delAGTT	ENST00000361572.6	+	6	785_788	c.591_594delAGTT	c.(589-594)acagttfs	p.TV197fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	197					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATCCCAGACAGTTAGTACCAGAT	0.412																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(547-552)acfs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426019_26426022delAGTT	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.591_594delAGTT	4.37:g.26426019_26426022delAGTT	ENSP00000354528:p.Thr197fs					RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs	p.TV183fs			Q06330	SUH_HUMAN			6	725_728	+		Breast(46;0.0503)	197					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.549_552delAGTT	CCDS3437.1																																																																																				0.412	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		29	152						29	152	---	---	---	---	-	26426022	AGTT	-	26426019	7	5	433	1	0	1	0	1	0	0	0	0	13161	175	7	0	676	0	RBPJ	4	26426019	Frame_Shift_Del	DEL	AGTT	TCGA-S9-A6WL-01A-21D-A33T-08		26426019	164728257	28	36879											
GABRA4	2557	broad.mit.edu	37	chr4	46967170	46967170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaaccagtccatggcGgtagcataggacactttggg	13	9	0	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:46967170G>A	ENST00000264318.3	-	8	1933	c.951C>T	c.(949-951)acC>acT	p.T317T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|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)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|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)	AGTCCATGGCGGTAGCATAGG	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(949-951)acC>acT		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160	133	142					4																	46967170		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967170G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.951C>T	4.37:g.46967170G>A							p.T317T	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1933	-			317					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.951C>T	CCDS3473.1																																																																																				0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			4	150	0	0	0	1	0	4	150					A	46967170	G	A	46967170	2	1	433	1	0	0	0	0	0	0	0	1	6163	1103	39	1		1	GABRA4	4	46967170	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	20541151	46967170	144187106	29	36880											
MUC7	4589	broad.mit.edu	37	chr4	71346666	71346666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctataaatgtctgcacaaaCgctgtaggcctaagcttcca	7	12	1	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:71346666C>T	ENST00000304887.5	+	3	395	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	MUC7_ENST00000413702.1_Missense_Mutation_p.R69C|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	69					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGCACAAACGCTGTAGGCC	0.443																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(205-207)Cgc>Tgc		mucin 7, secreted							162	157	159					4																	71346666		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346666C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.205C>T	4.37:g.71346666C>T	ENSP00000302021:p.Arg69Cys					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.R69C|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	p.R69C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	493	+			69					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.205C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656420	0.29425	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.56611	0.47;0.45;0.47;0.47	3.06	0.563	0.17296	.	.	.	.	.	T	0.28532	0.0706	N	0.19112	0.55	0.09310	N	1	P	0.42757	0.789	B	0.33254	0.16	T	0.12734	-1.0536	9	0.54805	T	0.06	8.1396	4.4629	0.11675	0.2136:0.612:0.0:0.1744	.	69	Q8TAX7	MUC7_HUMAN	C	69	ENSP00000407422:R69C;ENSP00000427594:R69C;ENSP00000400585:R69C;ENSP00000302021:R69C	ENSP00000302021:R69C	R	+	1	0	MUC7	71381255	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.555000	0.23422	0.080000	0.16959	0.655000	0.94253	CGC		0.443	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		24	106	0	0	0	1	0	24	106					T	71346666	C	T	71346666	3	4	433	1	0	0	0	0	1	0	0	0	9981	536	19	1	211	1	MUC7	4	71346666	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	24379496	71346666	119807610	30	36881											
SMAD1	4086	broad.mit.edu	37	chr4	146474982	146474983	+	Frame_Shift_Ins	INS	-	-	A													aggtgtatgccgaatgccttINSagtgacagtagcatctttgt							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:146474982_146474983insA	ENST00000515385.1	+	6	1586_1587	c.1044_1045insA	c.(1045-1047)agtfs	p.S349fs	SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.S349fs|SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.S349fs			Q15797	SMAD1_HUMAN	SMAD family member 1	349	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCGAATGCCTTAGTGACAGTAG	0.391																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(1042-1047)ctgtgafs		SMAD family member 1																																				SO:0001589	frameshift_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146474982_146474983insA	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1045dupA	4.37:g.146474983_146474983dupA	ENSP00000426568:p.Ser349fs					SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.*349fs|SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.*349fs	p.*349fs			Q15797	SMAD1_HUMAN			6	1586_1587	+	all_hematologic(180;0.151)		349			MH2.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Frame_Shift_Ins	INS	ENST00000515385.1	37	c.1044_1045insA	CCDS3765.1																																																																																				0.391	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		12	189						12	189	---	---	---	---	A	146474983	-	A	146474982	7	5	433	1	0	1	1	0	0	0	0	0	14757	1741	61	0	1062	0	SMAD1	4	146474982	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	75128316	146474982	44679294	31	36882											
DDX60L	91351	broad.mit.edu	37	chr4	169383094	169383094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagcatccagaaaactccGtttgcacatcaatgttagta	6	9	1	1	rs35627377		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:169383094G>A	ENST00000511577.1	-	5	609	c.362C>T	c.(361-363)aCg>aTg	p.T121M	DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	121							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAAAACTCCGTTTGCACATC	0.378																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(361-363)aCg>aTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							72	70	70					4																	169383094		1852	4098	5950	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169383094G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.362C>T	4.37:g.169383094G>A	ENSP00000422423:p.Thr121Met					DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M|DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M	p.T121M			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	5	609	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	121					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.362C>T		.	.	.	.	.	.	.	.	.	.	G	21.8	4.205738	0.79127	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505696	T;T;T	0.21361	2.01;2.01;2.01	3.39	3.39	0.38822	.	0.000000	0.39146	U	0.001442	T	0.43678	0.1258	M	0.68317	2.08	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.29640	-1.0005	10	0.87932	D	0	.	14.7	0.69150	0.0:0.0:1.0:0.0	.	121;121	D6R906;Q5H9U9	.;DDX6L_HUMAN	M	121	ENSP00000260184:T121M;ENSP00000422423:T121M;ENSP00000422202:T121M	ENSP00000260184:T121M	T	-	2	0	DDX60L	169619669	0.988000	0.35896	0.007000	0.13788	0.778000	0.44026	4.271000	0.58902	1.580000	0.49851	0.467000	0.42956	ACG		0.378	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		6	39	0	0	0	1	0	6	39					A	169383094	G	A	169383094	3	1	433	1	0	0	0	0	1	0	0	0	4379	1145	40	1	4894	1	DDX60L	4	169383094	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	22908112	169383094	21771182	32	36883											
WDR17	116966	broad.mit.edu	37	chr4	177067236	177067236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgaaagtatttagtggGcatacagcaaaagtgtttca	9	6	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:177067236G>A	ENST00000280190.4	+	13	1848	c.1692G>A	c.(1690-1692)ggG>ggA	p.G564G	WDR17_ENST00000393643.2_Silent_p.G540G|WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000507824.2_Silent_p.G547G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	564										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)		TATTTAGTGGGCATACAGCAA	0.388																																						ENST00000393643.2																			0				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						c.(1618-1620)ggG>ggA		WD repeat domain 17							149	143	145					4																	177067236		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177067236G>A	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.1692G>A	4.37:g.177067236G>A						WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000280190.4_Silent_p.G564G|WDR17_ENST00000507824.2_Silent_p.G547G	p.G540G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		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)	12	1872	+		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)	564					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.1620G>A	CCDS3825.1																																																																																				0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			4	130	0	0	0	1	0	4	130					A	177067236	G	A	177067236	2	1	433	1	0	0	0	0	0	0	0	1	17274	1190	42	2		2	WDR17	4	177067236	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	7684142	177067236	14087040	33	36884											
TLR3	7098	broad.mit.edu	37	chr4	187004790	187004790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaatccctttgattgcacGtgtgaaagtattgcctggtt	9	7	0	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:187004790G>A	ENST00000296795.3	+	4	2054	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	TLR3_ENST00000504367.1_Silent_p.T373T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	650	LRRCT.				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)		TTGATTGCACGTGTGAAAGTA	0.443																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1948-1950)acG>acA		toll-like receptor 3							114	122	119					4																	187004790		2202	4300	6502	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004790G>A	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.1950G>A	4.37:g.187004790G>A						TLR3_ENST00000504367.1_Silent_p.T373T	p.T650T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		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)	4	2054	+		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)	650			LRRCT.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1950G>A	CCDS3846.1																																																																																				0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			4	197	0	0	0	1	0	4	197					A	187004790	G	A	187004790	2	1	433	1	0	0	0	0	0	0	0	1	15949	1132	40	1		1	TLR3	4	187004790	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	9937554	187004790	4149486	34	36885											
DHX29	54505	broad.mit.edu	37	chr5	54585244	54585245	+	Frame_Shift_Del	DEL	AA	AA	-													taaatactggatggtcttctAaagtttccatttctaccaag							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:54585244_54585245delAA	ENST00000251636.5	-	8	1067_1068	c.919_920delTT	c.(919-921)ttafs	p.L307fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	307						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATGGTCTTCTAAAGTTTCCATT	0.292																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(919-921)afs		DEAH (Asp-Glu-Ala-His) box polypeptide 29																																				SO:0001589	frameshift_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54585244_54585245delAA	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.919_920delTT	5.37:g.54585244_54585245delAA	ENSP00000251636:p.Leu307fs					RP11-506H20.1_ENST00000506435.1_RNA	p.L307fs	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			8	1067_1068	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	307					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Del	DEL	ENST00000251636.5	37	c.919_920delTT	CCDS34158.1																																																																																				0.292	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		21	105						21	105	---	---	---	---	-	54585245	AA	-	54585244	7	5	433	1	0	1	0	1	0	0	0	0	4503	372	13	0	3269	0	DHX29	5	54585244	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WL-01A-21D-A33T-08		54585244	126330016	35	36886											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766860	130766860	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtaagagttcaaaaaaTcccagctttttgggtttgga	10	6	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:130766860T>A	ENST00000509018.1	-	26	4362	c.4157A>T	c.(4156-4158)gAt>gTt	p.D1386V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D1436V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1386	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCAAAAAATCCCAGCTTTT	0.453																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4156-4158)gAt>gTt		Rap guanine nucleotide exchange factor (GEF) 6							109	113	111					5																	130766860		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766860T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4157A>T	5.37:g.130766860T>A	ENSP00000421684:p.Asp1386Val					RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V|FNIP1_ENST00000514667.1_Missense_Mutation_p.D1436V	p.D1386V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4362	-			1386			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4157A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295059	0.81025	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.30981	1.62;1.51;1.51;1.62;1.71	5.11	5.11	0.69529	.	0.306075	0.36482	N	0.002563	T	0.45915	0.1366	M	0.65975	2.015	0.80722	D	1	B;B;P;B;P	0.44044	0.021;0.021;0.825;0.036;0.566	B;B;P;B;P	0.50896	0.06;0.06;0.653;0.088;0.529	T	0.49204	-0.8964	10	0.87932	D	0	.	15.2054	0.73175	0.0:0.0:0.0:1.0	.	1394;1394;1436;1399;1386	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	V	1386;1399;1394;1394;1399;1436	ENSP00000421684:D1386V;ENSP00000309298:D1399V;ENSP00000426081:D1394V;ENSP00000296859:D1394V;ENSP00000426948:D1436V	ENSP00000426948:D1436V	D	-	2	0	RAPGEF6;FNIP1	130794759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.022000	0.76431	2.064000	0.61679	0.533000	0.62120	GAT		0.453	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		9	201	0	0	0	1	0	9	201					A	130766860	T	A	130766860	3	1	433	1	0	0	0	0	1	0	0	0	13048	1435	50	5	660	5	RAPGEF6	5	130766860	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	76181616	130766860	50148400	36	36887											
C5orf24	134553	broad.mit.edu	37	chr5	134190831	134190833	+	In_Frame_Del	DEL	AAG	AAG	-													taaaagatgaactaaagaaaAagaagaatctcaaccgatct							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:134190831_134190833delAAG	ENST00000394976.3	+	2	469_471	c.241_243delAAG	c.(241-243)aagdel	p.K82del	C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del|C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	82								p.K81N(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTAAAGAAAAAGAAGAATCTCA	0.478																																						ENST00000394976.3																			1	Substitution - Missense(1)	p.K81N(1)	breast(1)	breast(2)|endometrium(2)|lung(2)	6						c.(241-243)del		chromosome 5 open reading frame 24																																				SO:0001651	inframe_deletion	134553							g.chr5:134190831_134190833delAAG	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.241_243delAAG	5.37:g.134190834_134190836delAAG	ENSP00000378427:p.Lys82del					C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del|C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del	p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	469_471	+			82					D3DQA7|Q86Y53|Q8N1T9	In_Frame_Del	DEL	ENST00000394976.3	37	c.241_243delAAG	CCDS4179.1																																																																																				0.478	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1	NM_152409		59	106						59	106	---	---	---	---	-	134190833	AAG	-	134190831	7	5	433	1	0	1	0	1	0	0	0	0	2287	15	1	0	243	0	C5orf24	5	134190831	In_Frame_Del	DEL	AAG	TCGA-S9-A6WL-01A-21D-A33T-08	3423971	134190831	46724429	37	36888											
PCDHB12	56124	broad.mit.edu	37	chr5	140590356	140590356	+	Frame_Shift_Del	DEL	C	C	-													gcacaatggcgaggtgcgcaCcgccaggctgctgagcgagc							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:140590356delC	ENST00000239450.2	+	1	2066	c.1877delC	c.(1876-1878)accfs	p.T626fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	626	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(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)			GAGGTGCGCACCGCCAGGCTG	0.701																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1876-1878)acfs									7	10	9					5																	140590356		1600	3284	4884	SO:0001589	frameshift_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590356delC	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.1877delC	5.37:g.140590356delC	ENSP00000239450:p.Thr626fs					PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	p.T626fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2066	+			626			Cadherin 6.		B4DDU1	Frame_Shift_Del	DEL	ENST00000239450.2	37	c.1877delC	CCDS4254.1																																																																																				0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		20	198						20	198	---	---	---	---	-	140590356	C	-	140590356	7	5	433	1	0	1	0	1	0	0	0	0	11537	507	18	0	1879	0	PCDHB12	5	140590356	Frame_Shift_Del	DEL	C	TCGA-S9-A6WL-01A-21D-A33T-08	6399525	140590356	40324904	38	36889											
TBC1D9B	23061	broad.mit.edu	37	chr5	179297323	179297323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccaggagcctgaacatgCgccctgccagcagaggtgtg	14	13	0	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:179297323C>T	ENST00000356834.3	-	16	2694	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	886	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAACATGCGCCCTGCCAG	0.592																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2656-2658)cGc>cAc		TBC1 domain family, member 9B (with GRAM domain)							103	107	105					5																	179297323		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297323C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2657G>A	5.37:g.179297323C>T	ENSP00000349291:p.Arg886His					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H	p.R886H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2694	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	886			EF-hand.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2657G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852170	0.71719	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.93	4.93	0.64822	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	L	0.40543	1.245	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;0.998;0.999;1.0;0.991;0.999	T	0.65857	-0.6066	10	0.72032	D	0.01	-25.2038	18.1555	0.89689	0.0:1.0:0.0:0.0	.	62;230;886;886;886;102	B4E3K0;B3KQE0;A1L3A9;Q66K14-2;Q66K14;B3KM54	.;.;.;.;TBC9B_HUMAN;.	H	886;886;62;44	ENSP00000349291:R886H;ENSP00000347375:R886H;ENSP00000430293:R62H;ENSP00000401585:R44H	ENSP00000347375:R886H	R	-	2	0	TBC1D9B	179229929	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	7.682000	0.84083	2.283000	0.76528	0.555000	0.69702	CGC		0.592	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	238	0	0	0	1	0	4	238					T	179297323	C	T	179297323	3	4	433	1	0	0	0	0	1	0	0	0	15625	768	27	1	1123	1	TBC1D9B	5	179297323	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	38706967	179297323	1617937	39	36890											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234788	26234788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctaggcttggctgcgCcagcctttttggccttgggt	13	12	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:26234788C>A	ENST00000244534.5	-	1	428	c.374G>T	c.(373-375)gGc>gTc	p.G125V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	125					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCGCCAGCCTTTTT	0.567																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(373-375)gGc>gTc		histone cluster 1, H1d							48	55	53					6																	26234788		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234788C>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.374G>T	6.37:g.26234788C>A	ENSP00000244534:p.Gly125Val						p.G125V	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	428	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	125					B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.374G>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	5.731	0.319296	0.10845	.	.	ENSG00000124575	ENST00000244534	T	0.14144	2.53	5.23	4.31	0.51392	.	0.326851	0.32120	N	0.006554	T	0.02807	0.0084	N	0.08118	0	0.39119	D	0.961637	B	0.27823	0.19	B	0.26517	0.07	T	0.43360	-0.9396	10	0.23891	T	0.37	-17.343	12.142	0.54002	0.0:0.642:0.358:0.0	.	125	P16402	H13_HUMAN	V	125	ENSP00000244534:G125V	ENSP00000244534:G125V	G	-	2	0	HIST1H1D	26342767	0.947000	0.32204	0.375000	0.26029	0.002000	0.02628	4.539000	0.60657	2.623000	0.88846	0.655000	0.94253	GGC		0.567	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		24	148	1	0	9.95505e-16	1	1.08371e-15	24	148					A	26234788	C	A	26234788	3	1	433	1	0	0	0	0	1	0	0	0	7125	739	26	4	295	4	HIST1H1D	6	26234788	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		26234788	144880279	40	36891											
RGL2	5863	broad.mit.edu	37	chr6	33266242	33266244	+	In_Frame_Del	DEL	TCC	TCC	-													cgcgtctcacctcttcttctTcctcctcctcttcctcctgc							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:33266242_33266244delTCC	ENST00000497454.1	-	2	639_641	c.144_146delGGA	c.(142-147)gaggaa>gaa	p.48_49EE>E	RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	48					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						ctcttcttcttcctcctcctctt	0.631																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(142-147)gaa>ga		ral guanine nucleotide dissociation stimulator-like 2																																				SO:0001651	inframe_deletion	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33266242_33266244delTCC		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.144_146delGGA	6.37:g.33266248_33266250delTCC	ENSP00000420211:p.Glu52del					RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	p.EE50del	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			2	639_641	-			50					B4DG72|Q5STK0|Q9Y3F3	In_Frame_Del	DEL	ENST00000497454.1	37	c.144_146delGGA	CCDS4774.1																																																																																				0.631	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			6	6						6	6	---	---	---	---	-	33266244	TCC	-	33266242	7	5	433	1	0	1	0	1	0	0	0	0	13277	1783	62	0	2255	0	RGL2	6	33266242	In_Frame_Del	DEL	TCC	TCGA-S9-A6WL-01A-21D-A33T-08	7031454	33266242	137848825	41	36892											
ZNF76	7629	broad.mit.edu	37	chr6	35258096	35258097	+	Frame_Shift_Ins	INS	-	-	A													aagggcagcaagttggagacINSagagcattccgctgtggcta							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:35258096_35258097insA	ENST00000373953.3	+	6	752_753	c.486_487insA	c.(487-489)agafs	p.R163fs	ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.R137fs|ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.R163fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	163					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						AAGTTGGAGACAGAGCATTCCG	0.525																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(484-489)gagagcfs		zinc finger protein 76																																				SO:0001589	frameshift_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35258096_35258097insA	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.487dupA	6.37:g.35258097_35258097dupA	ENSP00000363064:p.Arg163fs					ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.S137fs|ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.S163fs	p.S163fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			6	752_753	+			163					Q9BQB2	Frame_Shift_Ins	INS	ENST00000373953.3	37	c.486_487insA	CCDS4801.1																																																																																				0.525	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		15	519						15	519	---	---	---	---	A	35258097	-	A	35258096	7	5	433	1	0	1	1	0	0	0	0	0	18132	477	17	0	504	0	ZNF76	6	35258096	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	1991854	35258096	135856971	42	36893											
ABCA13	154664	broad.mit.edu	37	chr7	48315024	48315024	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactgtgcagaaatttTggcataagatattaccgttt	8	5	0	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:48315024T>G	ENST00000435803.1	+	17	5785	c.5761T>G	c.(5761-5763)Tgg>Ggg	p.W1921G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1921					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						GCAGAAATTTTGGCATAAGAT	0.383																																						ENST00000435803.1																			0				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						c.(5761-5763)Tgg>Ggg		ATP-binding cassette, sub-family A (ABC1), member 13							122	124	123					7																	48315024		1828	4082	5910	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315024T>G	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.5761T>G	7.37:g.48315024T>G	ENSP00000411096:p.Trp1921Gly						p.W1921G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5785	+			1921					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5761T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491645	0.44249	.	.	ENSG00000179869	ENST00000435803	T	0.44881	0.91	5.73	3.27	0.37495	.	0.000000	0.45606	D	0.000347	T	0.37210	0.0995	M	0.66939	2.045	0.80722	D	1	B	0.26147	0.143	B	0.24701	0.055	T	0.10359	-1.0633	9	.	.	.	.	7.3825	0.26864	0.1429:0.0:0.15:0.7071	.	1921	Q86UQ4	ABCAD_HUMAN	G	1921	ENSP00000411096:W1921G	.	W	+	1	0	ABCA13	48285570	1.000000	0.71417	0.978000	0.43139	0.521000	0.34408	1.694000	0.37752	0.393000	0.25203	0.528000	0.53228	TGG		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	297	0	0	0	1	0	4	297					G	48315024	T	G	48315024	3	3	433	1	0	0	0	0	1	0	0	0	31	1812	63	5	5656	5	ABCA13	7	48315024	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08		48315024	110823639	43	36894											
TRIM73	375593	broad.mit.edu	37	chr7	75028510	75028510	+	Frame_Shift_Del	DEL	T	T	-													ccaccggaacccgctcagccTtttctgcgagaaggaccagg							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:75028510delT	ENST00000437796.1	+	1	312	c.293delT	c.(292-294)cttfs	p.L98fs	TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000323819.3_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	98						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CCGCTCAGCCTTTTCTGCGAG	0.667																																						ENST00000323819.3																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(292-294)ctfs		tripartite motif containing 73							5	14	12					7																	75028510		821	2254	3075	SO:0001589	frameshift_variant	0					intracellular	zinc ion binding	g.chr7:75028510delT	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	18162	protein-coding gene	gene with protein product		612549	"tripartite motif-containing 50B", "tripartite motif-containing 73"	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.293delT	7.37:g.75028510delT	ENSP00000417040:p.Leu98fs					TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000437796.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000450434.1_5'UTR	p.L98fs	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN			2	493	+			98					Q8N0S3	Frame_Shift_Del	DEL	ENST00000437796.1	37	c.293delT	CCDS34665.1																																																																																				0.667	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1			2	4						2	4	---	---	---	---	-	75028510	T	-	75028510	7	5	433	1	0	1	0	1	0	0	0	0	16543	1609	56	0	295	0	TRIM73	7	75028510	Frame_Shift_Del	DEL	T	TCGA-S9-A6WL-01A-21D-A33T-08	26713486	75028510	84110153	44	36895											
MUC17	140453	broad.mit.edu	37	chr7	100680099	100680099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtaccagcataccaacctCgactcttagtgaaggaatga	9	10	1	2	rs147751797		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:100680099C>T	ENST00000306151.4	+	3	5466	c.5402C>T	c.(5401-5403)tCg>tTg	p.S1801L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	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)					ATACCAACCTCGACTCTTAGT	0.507																																						ENST00000306151.4																			0				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						c.(5401-5403)tCg>tTg		mucin 17, cell surface associated		C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	260	264	262		5402	0.7	0	7	dbSNP_134	262	0,8600		0,0,4300	no	missense	MUC17	NM_001040105.1	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1801/4494	100680099	2,13004	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680099C>T	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.5402C>T	7.37:g.100680099C>T	ENSP00000302716:p.Ser1801Leu						p.S1801L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5466	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1801			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5402C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.542	0.468344	0.12461	4.54E-4	0.0	ENSG00000169876	ENST00000306151	T	0.02015	4.5	0.726	0.726	0.18248	.	.	.	.	.	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	0.999998	D	0.61697	0.99	P	0.56474	0.799	T	0.52109	-0.8619	9	0.24483	T	0.36	.	4.8663	0.13609	0.0:1.0:0.0:0.0	.	1801	Q685J3	MUC17_HUMAN	L	1801	ENSP00000302716:S1801L	ENSP00000302716:S1801L	S	+	2	0	MUC17	100466819	0.001000	0.12720	0.008000	0.14137	0.015000	0.08874	1.361000	0.34136	0.716000	0.32124	0.134000	0.15878	TCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		72	672	0	0	0	1	0	72	672					T	100680099	C	T	100680099	3	4	433	1	0	0	0	0	1	0	0	0	9974	893	31	1	5412	1	MUC17	7	100680099	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	25651589	100680099	58458564	45	36896											
TMEM168	64418	broad.mit.edu	37	chr7	112424079	112424079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaatcattccagcaaaaaCgactgaaagtcttctgcaaa	5	11	4	1	rs201768776	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:112424079C>T	ENST00000312814.6	-	2	1362	c.802G>A	c.(802-804)Gtt>Att	p.V268I	TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	268						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						CCAGCAAAAACGACTGAAAGT	0.358													C|||	2	0.000399361	0.0	0.0	5008	,	,		18228	0.002		0.0	False		,,,				2504	0.0					ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(802-804)Gtt>Att		transmembrane protein 168							145	163	157					7																	112424079		2203	4299	6502	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424079C>T		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.802G>A	7.37:g.112424079C>T	ENSP00000323068:p.Val268Ile					TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1362	-			268					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.802G>A	CCDS5757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.372	0.835576	0.16820	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	1.76	0.24704	.	0.168374	0.52532	D	0.000063	T	0.12050	0.0293	N	0.00538	-1.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03566	-1.1024	9	0.15952	T	0.53	-16.6917	3.4983	0.07664	0.0:0.3519:0.1994:0.4487	.	268	Q9H0V1	TM168_HUMAN	I	268	.	ENSP00000323068:V268I	V	-	1	0	TMEM168	112211315	0.914000	0.31030	0.536000	0.28039	0.992000	0.81027	1.426000	0.34870	0.440000	0.26502	0.650000	0.86243	GTT		0.358	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		134	303	0	0	0	1	0	134	303					T	112424079	C	T	112424079	3	4	433	1	0	0	0	0	1	0	0	0	16080	536	19	1	1307	1	TMEM168	7	112424079	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	11743980	112424079	46714584	46	36897											
PPP1R3A	5506	broad.mit.edu	37	chr7	113520053	113520053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggaacaagtcagtacatAtttcaccatggatttgcttc	7	8	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:113520053A>G	ENST00000284601.3	-	4	1162	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	365					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						GTCAGTACATATTTCACCATG	0.388																																						ENST00000284601.3																			0				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						c.(1093-1095)aTa>aCa		protein phosphatase 1, regulatory subunit 3A							198	198	198					7																	113520053		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113520053A>G	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.1094T>C	7.37:g.113520053A>G	ENSP00000284601:p.Ile365Thr						p.I365T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1162	-			365					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1094T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	5.598	0.295124	0.10622	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.33865	2.31;1.39	5.62	-2.27	0.06846	.	1.526350	0.03679	N	0.245197	T	0.26159	0.0638	L	0.34521	1.04	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.17501	-1.0367	10	0.22109	T	0.4	-3.1054	7.957	0.30049	0.3805:0.1467:0.4729:0.0	.	365	Q16821	PPR3A_HUMAN	T	365;44	ENSP00000284601:I365T;ENSP00000401278:I44T	ENSP00000284601:I365T	I	-	2	0	PPP1R3A	113307289	0.010000	0.17322	0.000000	0.03702	0.114000	0.19823	0.334000	0.19787	-0.303000	0.08856	0.528000	0.53228	ATA		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		4	334	0	0	0	1	0	4	334					G	113520053	A	G	113520053	3	3	433	1	0	0	0	0	1	0	0	0	12371	449	16	3	2278	3	PPP1R3A	7	113520053	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	1095974	113520053	45618610	47	36898											
OR2A12	346525	broad.mit.edu	37	chr7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcttttctttggcagcGccattgtcatgtacatggcc	12	10	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254						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(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(760-762)Gcc>Acc		olfactory receptor, family 2, subfamily A, member 12							143	139	140					7																	143792960		1926	4146	6072	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792960G>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.760G>A	7.37:g.143792960G>A	ENSP00000386174:p.Ala254Thr						p.A254T	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	820	+	Melanoma(164;0.0783)		254					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.760G>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141922	0.37825	.	.	ENSG00000221858	ENST00000408949	T	0.00169	8.63	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	L	0.49699	1.58	0.25415	N	0.988322	D	0.54964	0.969	P	0.51385	0.668	T	0.57051	-0.7877	9	0.66056	D	0.02	-14.278	8.0494	0.30568	0.1096:0.0:0.8903:0.0	.	254	Q8NGT7	O2A12_HUMAN	T	254	ENSP00000386174:A254T	ENSP00000386174:A254T	A	+	1	0	OR2A12	143423893	0.006000	0.16342	0.969000	0.41365	0.098000	0.18820	1.204000	0.32296	2.241000	0.73720	0.505000	0.49811	GCC		0.562	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			56	407	0	0	0	1	0	56	407					A	143792960	G	A	143792960	3	1	433	1	0	0	0	0	1	0	0	0	10975	1087	38	1	762	1	OR2A12	7	143792960	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	30272907	143792960	15345703	48	36899											
SSPO	23145	broad.mit.edu	37	chr7	149474811	149474811	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgggcttccactacCgcacctttgatggccgccac	10	17	0	1	rs566175911		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							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)			CTTCCACTACCGCACCTTTGA	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							16	21	20					7																	149474811		2050	4179	6229			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474811C>T	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.149474811C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	610	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	32	0	0	0	1	0	9	32					T	149474811	C	T	149474811	1	4	433	0	1	0	0	0	0	0	0	0	15188	652	23	1		1	SSPO	7	149474811	RNA	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	5681851	149474811	9663852	49	36900											
GIMAP4	55303	broad.mit.edu	37	chr7	150269790	150269790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgggcctgatccagcGcgtggtgagggagaacaagg	18	8	0	3	rs200017717		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:150269790G>A	ENST00000255945.2	+	3	807	c.632G>A	c.(631-633)cGc>cAc	p.R211H	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATCCAGCGCGTGGTGAGG	0.542																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(631-633)cGc>cAc		GTPase, IMAP family member 4							93	91	92					7																	150269790		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269790G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.632G>A	7.37:g.150269790G>A	ENSP00000255945:p.Arg211His					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H|GIMAP4_ENST00000494750.1_3'UTR	p.R211H	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	807	+			211						Missense_Mutation	SNP	ENST00000255945.2	37	c.632G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421886	0.25639	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.62105	0.05;0.05	4.82	-5.81	0.02340	AIG1 (1);	1.494340	0.03308	N	0.190043	T	0.53254	0.1785	L	0.52364	1.645	0.09310	N	1	B;B	0.22276	0.067;0.059	B;B	0.17098	0.008;0.017	T	0.46005	-0.9222	10	0.46703	T	0.11	.	9.0796	0.36542	0.6681:0.1233:0.2086:0.0	.	225;211	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	H	211;225;143	ENSP00000255945:R211H;ENSP00000419545:R225H	ENSP00000255945:R211H	R	+	2	0	GIMAP4	149900723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.483000	0.00980	-1.201000	0.02659	-0.886000	0.02939	CGC		0.542	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		16	157	0	0	0	1	0	16	157					A	150269790	G	A	150269790	3	1	433	1	0	0	0	0	1	0	0	0	6381	1087	38	1	638	1	GIMAP4	7	150269790	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	794979	150269790	8868873	50	36901											
OPRK1	4986	broad.mit.edu	37	chr8	54142359	54142359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagtagtcatcatctgggAactgcaaggagcactcaatg	12	8	4	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:54142359A>G	ENST00000265572.3	-	4	938	c.641T>C	c.(640-642)tTc>tCc	p.F214S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCATCTGGGAACTGCAAGGA	0.473																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(640-642)tTc>tCc		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						55	59	58					8																	54142359		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142359A>G		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.641T>C	8.37:g.54142359A>G	ENSP00000265572:p.Phe214Ser					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S	p.F214S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	938	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	214					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.641T>C	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732088	0.69189	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.38401	1.14;1.14;1.14	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.087662	0.85682	D	0.000000	T	0.56140	0.1965	M	0.82132	2.575	0.80722	D	1	P	0.51057	0.941	P	0.53722	0.733	T	0.62718	-0.6795	10	0.72032	D	0.01	.	15.9651	0.79966	1.0:0.0:0.0:0.0	.	214	P41145	OPRK_HUMAN	S	214;125;214;200	ENSP00000265572:F214S;ENSP00000430923:F125S;ENSP00000429706:F214S	ENSP00000265572:F214S	F	-	2	0	OPRK1	54304912	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	9.339000	0.96797	2.175000	0.68902	0.528000	0.53228	TTC		0.473	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			16	48	0	0	0	1	0	16	48					G	54142359	A	G	54142359	3	3	433	1	0	0	0	0	1	0	0	0	10885	246	9	3	505	3	OPRK1	8	54142359	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08		54142359	92221663	51	36902											
MSC	9242	broad.mit.edu	37	chr8	72756362	72756362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccgggtactcccgctGcagcccccgaagctccatct	12	17	1	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:72756362G>A	ENST00000325509.4	-	1	341	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	RP11-383H13.1_ENST00000457356.4_3'UTR|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	18					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)			TACTCCCGCTGCAGCCCCCGA	0.692																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(52-54)Cag>Tag		musculin							15	17	17					8																	72756362		1626	3501	5127	SO:0001587	stop_gained	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756362G>A		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.52C>T	8.37:g.72756362G>A	ENSP00000321445:p.Gln18*					RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.Q18*	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	341	-	Breast(64;0.176)		18					O75946|Q53XZ2|Q9BRE7	Nonsense_Mutation	SNP	ENST00000325509.4	37	c.52C>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795582	0.98495	.	.	ENSG00000178860	ENST00000325509	.	.	.	4.11	3.21	0.36854	.	0.313505	0.26650	N	0.023215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	12.9554	0.58424	0.0:0.0:0.8367:0.1633	.	.	.	.	X	18	.	ENSP00000321445:Q18X	Q	-	1	0	MSC	72918916	0.988000	0.35896	0.995000	0.50966	0.987000	0.75469	1.266000	0.33039	0.894000	0.36317	0.561000	0.74099	CAG		0.692	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		25	36	0	0	0	1	0	25	36					A	72756362	G	A	72756362	4	1	433	1	0	0	0	0	0	1	0	0	9868	1328	46	2	576	2	MSC	8	72756362	Nonsense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	18614003	72756362	73607660	52	36903											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													ctcctttttattccaactctAcaaacagtttccgaaacaca					rs387906562|rs369807922		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													ENST00000388918.5																			2	Deletion - Frameshift(2)	p.N353fs*31(2)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acfs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12702411_12702414delACAA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs					RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	p.TN352fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1183_1186	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		10	91						10	91	---	---	---	---	-	12702414	ACAA	-	12702411	7	5	433	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-S9-A6WL-01A-21D-A33T-08		12702411	128511020	53	36904											
RRAGA	54801	broad.mit.edu	37	chr9	19050538	19050538	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaacattcgcaatgcccGgaaacactttgagaagctgg	10	10	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:19050538G>A	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.R294Q	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						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						CGCAATGCCCGGAAACACTTT	0.483																																						ENST00000380527.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(880-882)cGg>cAg		Ras-related GTP binding A							109	105	106					9																	19050538		2203	4300	6503	SO:0001628	intergenic_variant	10670				apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity	g.chr9:19050538G>A	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		9.37:g.19050538G>A							p.R294Q	NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN			1	1167	+			294					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.881G>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312914	0.81358	.	.	ENSG00000155876	ENST00000380527	T	0.71222	-0.55	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	P	0.54544	0.755	T	0.81874	-0.0732	10	0.48119	T	0.1	-13.5713	11.3151	0.49388	0.088:0.0:0.912:0.0	.	294	Q7L523	RRAGA_HUMAN	Q	294	ENSP00000369899:R294Q	ENSP00000369899:R294Q	R	+	2	0	RRAGA	19040538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.946000	0.92992	1.486000	0.48398	0.655000	0.94253	CGG		0.483	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	245	0	0	0	1	0	4	245					A	19050538	G	A	19050538	1	1	433	0	1	0	0	0	0	0	0	0	13672	1116	39	1		1	RRAGA	9	19050538	IGR	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	6348127	19050538	122162893	54	36905											
ACO1	48	broad.mit.edu	37	chr9	32448928	32448928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccgagagctacgagcGcattcaccgcagtaacctgg	12	14	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:32448928G>A	ENST00000309951.6	+	20	2543	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	ACO1_ENST00000541043.1_Missense_Mutation_p.R703H|ACO1_ENST00000379923.1_Missense_Mutation_p.R802H	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	802					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCTACGAGCGCATTCACCGC	0.483																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(2404-2406)cGc>cAc		aconitase 1, soluble							131	112	118					9																	32448928		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32448928G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2405G>A	9.37:g.32448928G>A	ENSP00000309477:p.Arg802His					ACO1_ENST00000309951.5_Missense_Mutation_p.R802H|ACO1_ENST00000541043.1_Missense_Mutation_p.R703H	p.R802H	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	21	2611	+			802					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2405G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241759	0.58995	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.54071	0.59;0.59;1.62	5.83	4.93	0.64822	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.113796	0.64402	D	0.000010	T	0.76905	0.4053	H	0.98333	4.205	0.80722	D	1	D	0.53462	0.96	P	0.51229	0.663	D	0.85902	0.1435	10	0.87932	D	0	-3.3044	13.6001	0.62013	0.0754:0.0:0.9246:0.0	.	802	P21399	ACOC_HUMAN	H	802;802;703	ENSP00000309477:R802H;ENSP00000369255:R802H;ENSP00000438733:R703H	ENSP00000309477:R802H	R	+	2	0	ACO1	32438928	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	5.659000	0.68010	1.464000	0.47987	0.650000	0.86243	CGC		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		4	126	0	0	0	1	0	4	126					A	32448928	G	A	32448928	3	1	433	1	0	0	0	0	1	0	0	0	146	1087	38	1	2479	1	ACO1	9	32448928	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	13398390	32448928	108764503	55	36906											
VCP	7415	broad.mit.edu	37	chr9	35060873	35060873	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttacctgtggcacctcTaccacggtttcccgcagtgc	10	15	1	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:35060873T>G	ENST00000358901.6	-	12	2302	c.1407A>C	c.(1405-1407)gtA>gtC	p.V469V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	469					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGCACCTCTACCACGGTTT	0.562																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1405-1407)gtA>gtC		valosin containing protein							151	132	138					9																	35060873		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35060873T>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1407A>C	9.37:g.35060873T>G							p.V469V	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2302	-			469					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.1407A>C	CCDS6573.1																																																																																				0.562	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		15	211	0	0	0	1	0	15	211					G	35060873	T	G	35060873	2	3	433	1	0	0	0	0	0	0	0	1	17137	1509	53	5		5	VCP	9	35060873	Silent	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2611945	35060873	106152558	56	36907											
ABCA1	19	broad.mit.edu	37	chr9	107547732	107547732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtggagtcgctttttgCtctgggagaggatgctgaat	14	6	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:107547732C>A	ENST00000374736.3	-	49	6984	c.6590G>T	c.(6589-6591)aGc>aTc	p.S2197I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2197					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)	TCGCTTTTTGCTCTGGGAGAG	0.433																																						ENST00000374736.3																			0				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						c.(6589-6591)aGc>aTc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						120	114	116					9																	107547732		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547732C>A	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.6590G>T	9.37:g.107547732C>A	ENSP00000363868:p.Ser2197Ile						p.S2197I	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6984	-			2197					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6590G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198490	0.58126	.	.	ENSG00000165029	ENST00000374736	D	0.83163	-1.69	6.0	5.0	0.66597	.	0.040345	0.85682	D	0.000000	T	0.68824	0.3043	L	0.27053	0.805	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.64309	-0.6438	10	0.41790	T	0.15	.	4.0212	0.09667	0.0:0.6916:0.0:0.3084	.	2197	O95477	ABCA1_HUMAN	I	2197	ENSP00000363868:S2197I	ENSP00000363868:S2197I	S	-	2	0	ABCA1	106587553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.086000	0.64474	2.850000	0.98022	0.650000	0.86243	AGC		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	156	1	0	0.150653	1	0.152426	4	156					A	107547732	C	A	107547732	3	1	433	1	0	0	0	0	1	0	0	0	28	797	28	4	203	4	ABCA1	9	107547732	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	72486859	107547732	33665699	57	36908											
SLC34A3	142680	broad.mit.edu	37	chr9	140130623	140130623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctggccgctgtcgggGgtcccctggtggggctggtg	21	10	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140130623G>A	ENST00000538474.1	+	13	1779	c.1555G>A	c.(1555-1557)Ggt>Agt	p.G519S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	519					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)		CGCTGTCGGGGGTCCCCTGGT	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1555-1557)Ggt>Agt		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							16	13	14					9																	140130623		2125	4203	6328	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130623G>A	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.1555G>A	9.37:g.140130623G>A	ENSP00000442397:p.Gly519Ser		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1779	+	all_cancers(76;0.0926)		519					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1555G>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575331	0.45902	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.30448	1.53;1.53	4.24	3.31	0.37934	.	0.106101	0.39083	N	0.001474	T	0.28962	0.0719	L	0.43152	1.355	0.35222	D	0.776123	P	0.48162	0.906	B	0.44224	0.444	T	0.44742	-0.9308	10	0.54805	T	0.06	-15.35	11.806	0.52155	0.0:0.1793:0.8207:0.0	.	519	Q8N130	NPT2C_HUMAN	S	519	ENSP00000442397:G519S;ENSP00000355353:G519S	ENSP00000355353:G519S	G	+	1	0	SLC34A3	139250444	0.002000	0.14202	0.990000	0.47175	0.070000	0.16714	0.690000	0.25451	1.104000	0.41587	0.511000	0.50034	GGT		0.726	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		3	21	0	0	0	1	0	3	21					A	140130623	G	A	140130623	3	1	433	1	0	0	0	0	1	0	0	0	14569	1232	43	2	1601	2	SLC34A3	9	140130623	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	32582891	140130623	1082808	58	36909											
PNPLA7	375775	broad.mit.edu	37	chr9	140356488	140356488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcccgtgctggtagccCacttcctgtgcacaccccca	10	18	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140356488C>T	ENST00000277531.4	-	31	3762	c.3576G>A	c.(3574-3576)gtG>gtA	p.V1192V	NSMF_ENST00000371472.2_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.V1217V|PNPLA7_ENST00000371457.1_Silent_p.V798V|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371473.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1192					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)		GCTGGTAGCCCACTTCCTGTG	0.677																																						ENST00000406427.1																			0				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						c.(3649-3651)gtG>gtA		patatin-like phospholipase domain containing 7							11	12	12					9																	140356488		2186	4291	6477	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356488C>T	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.3576G>A	9.37:g.140356488C>T						PNPLA7_ENST00000371457.1_Silent_p.V798V|PNPLA7_ENST00000277531.4_Silent_p.V1192V|PNPLA7_ENST00000492278.1_5'UTR	p.V1217V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	32	3987	-	all_cancers(76;0.126)		1192					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.3651G>A	CCDS7045.1																																																																																				0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		6	15	0	0	0	1	0	6	15					T	140356488	C	T	140356488	2	4	433	1	0	0	0	0	0	0	0	1	12170	581	21	2		2	PNPLA7	9	140356488	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	225865	140356488	856943	59	36910											
MRC1	4360	broad.mit.edu	37	chr10	17949595	17949595	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggtctcctttgtcaactGgaacacaggagatccctctg	9	13	3	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:17949595G>A	ENST00000331429.2	+	28	4062	c.3959G>A	c.(3958-3960)tGg>tAg	p.W1320*																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTGTCAACTGGAACACAGGA	0.393																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3958-3960)tGg>tAg									60	61	61					10																	17949595		2177	4258	6435	SO:0001587	stop_gained	0							g.chr10:17949595G>A																												ENST00000331429.2:c.3959G>A	10.37:g.17949595G>A	ENSP00000332124:p.Trp1320*						p.W1320*							28	4062	+									Nonsense_Mutation	SNP	ENST00000331429.2	37	c.3959G>A		.	.	.	.	.	.	.	.	.	.	.	39	7.543844	0.98348	.	.	ENSG00000183748	ENST00000331429	.	.	.	4.04	4.04	0.47022	.	0.122796	0.37348	U	0.002127	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5401	16.4284	0.83832	0.0:0.0:1.0:0.0	.	.	.	.	X	1320	.	ENSP00000332124:W1320X	W	+	2	0	AL928580.1	17989601	1.000000	0.71417	0.998000	0.56505	0.172000	0.22775	7.223000	0.78033	2.086000	0.62901	0.508000	0.49915	TGG		0.393	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			53	88	0	0	0	1	0	53	88					A	17949595	G	A	17949595	4	1	433	1	0	0	0	0	0	1	0	0	9756	1357	47	2	4069	2	MRC1	10	17949595	Nonsense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		17949595	117585152	60	36911											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					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)	TTGGACCTTGCGGCGTCCACT	0.557		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)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				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						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252	239	243					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	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.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val					RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	507	0	0	0	1	0	6	507					T	43622039	C	T	43622039	3	4	433	1	0	0	0	0	1	0	0	0	13235	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	25672444	43622039	91912708	61	36912											
MINPP1	9562	broad.mit.edu	37	chr10	89311947	89311947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggaacccctaacagcGtacaattacaaaaaacaaat	5	10	0	0	rs369683786		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:89311947G>A	ENST00000371996.4	+	5	1217	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	MINPP1_ENST00000536010.1_Silent_p.A191A|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	392					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CCCTAACAGCGTACAATTACA	0.428																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(1174-1176)gcG>gcA		multiple inositol-polyphosphate phosphatase 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	129	121	123		,573,1176	0.9	1	10		123	0,8600		0,0,4300	no	utr-3,coding-synonymous,coding-synonymous	MINPP1	NM_001178117.1,NM_001178118.1,NM_004897.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,191/287,392/488	89311947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89311947G>A	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"multiple inositol polyphosphate histidine phosphatase, 1"			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1176G>A	10.37:g.89311947G>A						MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Silent_p.A191A	p.A392A	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	5	1217	+		Colorectal(252;0.122)	392					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	ENST00000371996.4	37	c.1176G>A	CCDS7384.1																																																																																				0.428	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			5	249	0	0	0	1	0	5	249					A	89311947	G	A	89311947	2	1	433	1	0	0	0	0	0	0	0	1	9588	1132	40	1		1	MINPP1	10	89311947	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	45689908	89311947	46222800	62	36913											
C10orf79	80217	broad.mit.edu	37	chr10	105942139	105942139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgtgtgttcagaatcGgatcccaaatctacggaaac	8	10	3	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:105942139G>A	ENST00000278064.2	-	17	2392	c.2067C>T	c.(2065-2067)tcC>tcT	p.S689S	WDR96_ENST00000357060.3_Silent_p.S758S|WDR96_ENST00000428666.1_Silent_p.S759S																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						GTTCAGAATCGGATCCCAAAT	0.378																																						ENST00000357060.3																			0				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						c.(2272-2274)tcC>tcT		WD repeat domain 96							203	180	188					10																	105942139		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105942139G>A																												ENST00000278064.2:c.2067C>T	10.37:g.105942139G>A						WDR96_ENST00000278064.2_Silent_p.S689S|WDR96_ENST00000428666.1_Silent_p.S759S	p.S758S	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			17	2389	-			758						Silent	SNP	ENST00000278064.2	37	c.2274C>T		.	.	.	.	.	.	.	.	.	.	G	2.945	-0.218074	0.06101	.	.	ENSG00000197748	ENST00000434629	.	.	.	4.78	-8.49	0.00931	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22138	-1.0225	4	.	.	.	.	1.7606	0.02991	0.4091:0.2212:0.2564:0.1133	.	.	.	.	L	119	.	.	P	-	2	0	WDR96	105932129	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.284000	0.02793	-1.245000	0.02513	-0.157000	0.13467	CCG		0.378	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			38	162	0	0	0	1	0	38	162					A	105942139	G	A	105942139	2	1	433	1	0	0	0	0	0	0	0	1	1618	1103	39	1		1	C10orf79	10	105942139	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	16630192	105942139	29592608	63	36914											
INPP5A	3632	broad.mit.edu	37	chr10	134523946	134523946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccggcacaaggcactgggCtacgtgctggacaggtaggt	15	10	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:134523946C>T	ENST00000368594.3	+	8	910	c.633C>T	c.(631-633)ggC>ggT	p.G211G	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.G211G	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	211					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	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)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGCACTGGGCTACGTGCtgg	0.597																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(631-633)ggC>ggT		inositol polyphosphate-5-phosphatase, 40kDa							69	53	59					10																	134523946		2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134523946C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.633C>T	10.37:g.134523946C>T						INPP5A_ENST00000368593.3_Silent_p.G211G|INPP5A_ENST00000487614.1_3'UTR	p.G211G	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	8	910	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	211					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.633C>T	CCDS7669.2																																																																																				0.597	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		10	65	0	0	0	1	0	10	65					T	134523946	C	T	134523946	2	4	433	1	0	0	0	0	0	0	0	1	7754	784	28	2		2	INPP5A	10	134523946	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	28581807	134523946	1010801	64	36915											
RPS3	6188	broad.mit.edu	37	chr11	75115087	75115089	+	In_Frame_Del	DEL	TCA	TCA	-													ctgctatggtgtgctgcggtTcatcatggagagtggggcca							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:75115087_75115089delTCA	ENST00000531188.1	+	5	436_438	c.374_376delTCA	c.(373-378)ttcatc>ttc	p.I126del	RPS3_ENST00000278572.6_In_Frame_Del_p.I142del|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000524851.1_In_Frame_Del_p.I126del|RPS3_ENST00000527446.1_In_Frame_Del_p.I126del|RPS3_ENST00000526608.1_In_Frame_Del_p.I114del|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	126					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGCTGCGGTTCATCATGGAGAG	0.488																																						ENST00000531188.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(373-378)ttc>t		ribosomal protein S3																																				SO:0001651	inframe_deletion	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75115087_75115089delTCA		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"S ribosomal proteins"	10420	protein-coding gene	gene with protein product	"IMR-90 ribosomal protein S3", "40S ribosomal protein S3"	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.374_376delTCA	11.37:g.75115090_75115092delTCA	ENSP00000434643:p.Ile126del					RPS3_ENST00000526608.1_In_Frame_Del_p.FI113del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_In_Frame_Del_p.FI125del|RPS3_ENST00000524851.1_In_Frame_Del_p.FI125del|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000278572.6_In_Frame_Del_p.FI141del	p.FI125del	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN			5	436_438	+			125					B2R7N5|J3KN86|Q498B5|Q8NI95	In_Frame_Del	DEL	ENST00000531188.1	37	c.374_376delTCA	CCDS8236.1																																																																																				0.488	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		7	182						7	182	---	---	---	---	-	75115089	TCA	-	75115087	7	5	433	1	0	1	0	1	0	0	0	0	13643	1783	62	0	392	0	RPS3	11	75115087	In_Frame_Del	DEL	TCA	TCGA-S9-A6WL-01A-21D-A33T-08		75115087	59891429	65	36916											
RSF1	51773	broad.mit.edu	37	chr11	77413493	77413493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtagaacggttttctaaatCcataggctgctcctcacttt	7	10	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:77413493C>T	ENST00000308488.6	-	6	1083	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	261	Glu-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTCTAAATCCATAGGCTGC	0.338																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(781-783)Gat>Aat		remodeling and spacing factor 1							52	59	56					11																	77413493		2164	4135	6299	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77413493C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.781G>A	11.37:g.77413493C>T	ENSP00000311513:p.Asp261Asn					RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N	p.D261N			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1083	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		261			Glu-rich.		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.781G>A	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273262	0.23221	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.88124	-2.18;-2.27;-2.31;-2.34;1.29	5.1	3.23	0.37069	.	0.337088	0.25584	N	0.029677	T	0.81422	0.4819	L	0.51422	1.61	0.27022	N	0.96446	B	0.09022	0.002	B	0.08055	0.003	T	0.72064	-0.4403	10	0.51188	T	0.08	-7.2333	7.523	0.27639	0.0:0.7086:0.1375:0.1539	.	261	Q96T23	RSF1_HUMAN	N	261;9;230;62;260	ENSP00000311513:D261N;ENSP00000434509:D9N;ENSP00000353511:D230N;ENSP00000432022:D62N;ENSP00000436408:D260N	ENSP00000311513:D261N	D	-	1	0	RSF1	77091141	0.040000	0.19996	0.327000	0.25402	0.012000	0.07955	0.185000	0.16958	0.732000	0.32470	0.655000	0.94253	GAT		0.338	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		75	152	0	0	0	1	0	75	152					T	77413493	C	T	77413493	3	4	433	1	0	0	0	0	1	0	0	0	13699	855	30	2	3588	2	RSF1	11	77413493	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	2298406	77413493	57593023	66	36917											
GRM5	2915	broad.mit.edu	37	chr11	88386475	88386475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcagataataatcatcaaaCcacttgacatcgggagattg	7	8	3	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:88386475C>G	ENST00000305447.4	-	3	1157	c.1008G>C	c.(1006-1008)tgG>tgC	p.W336C	GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000418177.2_Missense_Mutation_p.W336C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	336					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AATCATCAAACCACTTGACAT	0.478																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1006-1008)tgG>tgC		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						103	102	103					11																	88386475		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386475C>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1008G>C	11.37:g.88386475C>G	ENSP00000306138:p.Trp336Cys					GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305447.4_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C	p.W336C			P41594	GRM5_HUMAN			4	1375	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	336					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1008G>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180885	0.78677	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.88392	0.3009	9	.	.	.	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	336;336	P41594-2;P41594	.;GRM5_HUMAN	C	336	ENSP00000402912:W336C;ENSP00000405690:W336C;ENSP00000305905:W336C;ENSP00000306138:W336C;ENSP00000376975:W336C	.	W	-	3	0	GRM5	88026123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.789000	0.95967	0.591000	0.81541	TGG		0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		20	89	0	0	0	1	0	20	89					G	88386475	C	G	88386475	3	3	433	1	0	0	0	0	1	0	0	0	6800	508	18	4	2658	4	GRM5	11	88386475	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10972982	88386475	46620041	67	36918											
MLL	4297	broad.mit.edu	37	chr11	118344558	118344558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaagagaaaaggaaaaAgggatcagaaattcagagta	12	2	2	3	rs200600434		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:118344558A>G	ENST00000389506.5	+	3	2684	c.2684A>G	c.(2683-2685)aAg>aGg	p.K895R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K895R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K895R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	895					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)										aaaaggaaaaagggaTCAGAA	0.458																																						ENST00000534358.1																			0											c.(2683-2685)aAg>aGg		lysine (K)-specific methyltransferase 2A																																				SO:0001583	missense	4297							g.chr11:118344558A>G	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.2684A>G	11.37:g.118344558A>G	ENSP00000374157:p.Lys895Arg					KMT2A_ENST00000354520.4_Missense_Mutation_p.K895R|KMT2A_ENST00000389506.5_Missense_Mutation_p.K895R	p.K895R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	2707	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.2684A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.970012	0.34754	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.83992	-1.79;1.23;-1.79;-1.72	5.56	5.56	0.83823	.	0.063937	0.64402	D	0.000002	T	0.77532	0.4144	N	0.20986	0.625	0.42732	D	0.993714	D;D;D	0.54601	0.967;0.967;0.967	P;P;P	0.47206	0.541;0.541;0.541	T	0.77159	-0.2690	10	0.29301	T	0.29	.	16.0119	0.80409	1.0:0.0:0.0:0.0	.	895;895;928	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	R	895;928;895;895	ENSP00000436786:K895R;ENSP00000432391:K928R;ENSP00000374157:K895R;ENSP00000346516:K895R	ENSP00000346516:K895R	K	+	2	0	MLL	117849768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.614000	0.54160	2.245000	0.73994	0.482000	0.46254	AAG		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	107	0	0	0	1	0	3	107					G	118344558	A	G	118344558	3	3	433	1	0	0	0	0	1	0	0	0	9620	72	3	3	2694	3	MLL	11	118344558	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	29958083	118344558	16661958	68	36919											
MLL2	8085	broad.mit.edu	37	chr12	49424957	49424959	+	Splice_Site	DEL	CCT	CCT	-													cactctactcagagtactcaCctccttgttgctgggggtac							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:49424957_49424959delCCT	ENST00000301067.7	-	39	13528_13530	c.13529_13531delAGG	c.(13528-13533)gaggat>gat	p.E4510del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4510					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)										AGAGTACTCACCTCCTTGTTGCT	0.606																																						ENST00000301067.7																			0											c.e39+1		lysine (K)-specific methyltransferase 2D																																				SO:0001630	splice_region_variant	8085							g.chr12:49424957_49424959delCCT	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.13530+1AGG>-	12.37:g.49424960_49424962delCCT							p.ED4510_splice	NM_003482.3	NP_003473.3					39	13528_13530	-								O14687	Splice_Site	DEL	ENST00000301067.7	37	c.13530_splice	CCDS44873.1																																																																																				0.606	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		In_Frame_Del	21	142						21	142	---	---	---	---	-	49424959	CCT	-	49424957	8	5	433	1	0	1	0	1	0	0	1	0	9621	521	18	0	3146	0	MLL2	12	49424957	Splice_Site	DEL	CCT	TCGA-S9-A6WL-01A-21D-A33T-08		49424957	84426938	69	36920											
KRT71	112802	broad.mit.edu	37	chr12	52946639	52946639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcaaagccactggcccGgccccggccaaatccatagc	9	18	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:52946639G>A	ENST00000267119.5	-	1	292	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	75	Gly-rich.|Head.				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)		CCACTGGCCCGGCCCCGGCCA	0.642																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(223-225)Cgg>Tgg		keratin 71							69	76	74					12																	52946639		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52946639G>A	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.223C>T	12.37:g.52946639G>A	ENSP00000267119:p.Arg75Trp						p.R75W	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	1	292	-			75			Gly-rich.|Head.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.223C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507273	0.27036	.	.	ENSG00000139648	ENST00000267119	T	0.80393	-1.37	5.1	5.1	0.69264	.	0.000000	0.41001	D	0.000972	T	0.76821	0.4041	M	0.72894	2.215	0.30248	N	0.794324	B	0.29301	0.241	B	0.23419	0.046	T	0.74578	-0.3619	10	0.38643	T	0.18	.	10.8284	0.46647	0.0:0.14:0.7152:0.1448	.	75	Q3SY84	K2C71_HUMAN	W	75	ENSP00000267119:R75W	ENSP00000267119:R75W	R	-	1	2	KRT71	51232906	0.989000	0.36119	0.996000	0.52242	0.982000	0.71751	2.286000	0.43496	2.540000	0.85666	0.561000	0.74099	CGG		0.642	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		48	165	0	0	0	1	0	48	165					A	52946639	G	A	52946639	3	1	433	1	0	0	0	0	1	0	0	0	8484	1115	39	1	1384	1	KRT71	12	52946639	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3521682	52946639	80905256	70	36921											
C12orf51	283450	broad.mit.edu	37	chr12	112605711	112605714	+	Frame_Shift_Del	DEL	GAAA	GAAA	-													acctgccacaggaagtggcgGaaagagccgcctgtaggaca							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:112605711_112605714delGAAA	ENST00000430131.2	-	70	12095_12098	c.10950_10953delTTTC	c.(10948-10953)tctttcfs	p.SF3650fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.SF3900fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.SF3926fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3650	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										GGAAGTGGCGGAAAGAGCCGCCTG	0.623																																						ENST00000550722.1																			0											c.(11776-11781)tcfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112605711_112605714delGAAA	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.10950_10953delTTTC	12.37:g.112605711_112605714delGAAA	ENSP00000404379:p.Ser3650fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.SF3650fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.SF3900fs	p.SF3926fs	NM_001109662.3	NP_001103132.3					71	12173_12176	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.11778_11781delTTTC																																																																																					0.623	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		31	78						31	78	---	---	---	---	-	112605714	GAAA	-	112605711	7	5	433	1	0	1	0	1	0	0	0	0	1696	1165	41	0	1061	0	C12orf51	12	112605711	Frame_Shift_Del	DEL	GAAA	TCGA-S9-A6WL-01A-21D-A33T-08	59659072	112605711	21246184	71	36922											
ANAPC5	51433	broad.mit.edu	37	chr12	121775117	121775117	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaaatcaggattaaAtttcaacaaattgtttaatt	4	5	3	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:121775117A>T	ENST00000261819.3	-	6	857	c.736T>A	c.(736-738)Ttt>Att	p.F246I	ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I|ANAPC5_ENST00000544314.1_5'Flank|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	246					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)					TCAGGATTAAATTTCAACAAA	0.358																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(736-738)Ttt>Att		anaphase promoting complex subunit 5							102	108	106					12																	121775117		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121775117A>T	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.736T>A	12.37:g.121775117A>T	ENSP00000261819:p.Phe246Ile					ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I	p.F246I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			6	857	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		246					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.736T>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995466	0.93167	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.44542	1.39	0.80722	D	1	D;D	0.59357	0.963;0.985	P;P	0.53006	0.63;0.715	T	0.32241	-0.9914	10	0.48119	T	0.1	.	15.9966	0.80256	1.0:0.0:0.0:0.0	.	147;246	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	147;246;246;147;125;147	ENSP00000415061:F147I;ENSP00000439875:F246I;ENSP00000261819:F246I;ENSP00000343787:F147I;ENSP00000445310:F125I;ENSP00000440800:F147I	ENSP00000261819:F246I	F	-	1	0	ANAPC5	120259500	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.544000	0.90654	2.238000	0.73509	0.460000	0.39030	TTT		0.358	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			63	210	0	0	0	1	0	63	210					T	121775117	A	T	121775117	3	4	433	1	0	0	0	0	1	0	0	0	605	101	4	5	1579	5	ANAPC5	12	121775117	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	9169406	121775117	12076778	72	36923											
ARL6IP4	23457	broad.mit.edu	37	chr12	123466320	123466322	+	5'Flank	DEL	GAA	GAA	-													aagaagaagaggaagaagctGaagaagaagggcaaggagaa							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:123466320_123466322delGAA	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000357866.4_In_Frame_Del_p.K116del|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.K239del|ARL6IP4_ENST00000315580.5_In_Frame_Del_p.K247del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.K228del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.K113del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.K105del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.K116del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.K228del|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.K105del			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ggaagaagctgaagaagaagggc	0.596																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5																			0											c.(730-735)ctg>ct		ADP-ribosylation-like factor 6 interacting protein 4																																				SO:0001631	upstream_gene_variant	51329				RNA splicing	nucleus		g.chr12:123466320_123466322delGAA	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466326_123466328delGAA	Exception_encountered					ARL6IP4_ENST00000412505.2_In_Frame_Del_p.LK102del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.LK225del|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.LK225del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.LK236del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.LK113del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.LK113del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.LK110del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.LK102del	p.LK244del			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	3	1060_1062	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		244			Lys-rich.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	In_Frame_Del	DEL	ENST00000542678.1	37	c.732_734delGAA	CCDS9241.1																																																																																				0.596	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		5	5						5	5	---	---	---	---	-	123466322	GAA	-	123466320	6	5	433	0	1	1	0	1	0	0	0	0	943	1277	45	0		0	ARL6IP4	12	123466320	5'Flank	DEL	GAA	TCGA-S9-A6WL-01A-21D-A33T-08	1691203	123466320	10385575	73	36924											
KBTBD7	84078	broad.mit.edu	37	chr13	41768288	41768288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttaactcctctggacCcgtgaaaaaggccgaaaccg	9	13	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr13:41768288C>T	ENST00000379483.3	-	1	414	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	36										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)		TCCTCTGGACCCGTGAAAAAG	0.637																																						ENST00000379483.3																			0				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						c.(106-108)Ggt>Agt		kelch repeat and BTB (POZ) domain containing 7							85	92	89					13																	41768288		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768288C>T	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.106G>A	13.37:g.41768288C>T	ENSP00000368797:p.Gly36Ser						p.G36S	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		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)	1	414	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	36					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.106G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531266	0.85706	.	.	ENSG00000120696	ENST00000379483	T	0.74002	-0.8	4.99	4.99	0.66335	BTB/POZ fold (1);	0.078821	0.49305	U	0.000146	T	0.79269	0.4417	L	0.32530	0.975	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.77011	-0.2746	10	0.30078	T	0.28	.	15.7322	0.77814	0.0:1.0:0.0:0.0	.	36	Q8WVZ9	KBTB7_HUMAN	S	36	ENSP00000368797:G36S	ENSP00000368797:G36S	G	-	1	0	KBTBD7	40666288	0.996000	0.38824	1.000000	0.80357	0.982000	0.71751	4.034000	0.57289	2.295000	0.77249	0.491000	0.48974	GGT		0.637	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		5	236	0	0	0	1	0	5	236					T	41768288	C	T	41768288	3	4	433	1	0	0	0	0	1	0	0	0	7998	623	22	2	1952	2	KBTBD7	13	41768288	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		41768288	73401590	74	36925											
KIF26A	26153	broad.mit.edu	37	chr14	104633229	104633231	+	In_Frame_Del	DEL	GAA	GAA	-													ctcagcctggcctccaagagGaagaagccccacccgccacc					rs375705738		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr14:104633229_104633231delGAA	ENST00000423312.2	+	5	957_959	c.957_959delGAA	c.(955-960)aggaag>agg	p.K321del	KIF26A_ENST00000315264.7_In_Frame_Del_p.K182del	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	321					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGAGGAAGAAGCCCCAC	0.704																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(538-543)agg>ag		kinesin family member 26A																																				SO:0001651	inframe_deletion	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104633229_104633231delGAA	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.957_959delGAA	14.37:g.104633232_104633234delGAA	ENSP00000388241:p.Lys321del					KIF26A_ENST00000423312.2_In_Frame_Del_p.RK319del	p.RK180del			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	4	918_920	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	319					Q8TAZ7|Q96GK3|Q9UFL3	In_Frame_Del	DEL	ENST00000423312.2	37	c.540_542delGAA	CCDS45171.1																																																																																				0.704	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			5	9						5	9	---	---	---	---	-	104633231	GAA	-	104633229	7	5	433	1	0	1	0	1	0	0	0	0	8294	1165	41	0	975	0	KIF26A	14	104633229	In_Frame_Del	DEL	GAA	TCGA-S9-A6WL-01A-21D-A33T-08		104633229	2716311	75	36926											
C15orf2	23742	broad.mit.edu	37	chr15	24923368	24923368	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggccgcagcagaaaacctCtctccccagtgcccatgatt	9	15	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:24923368C>T	ENST00000329468.2	+	1	2828	c.2354C>T	c.(2353-2355)tCt>tTt	p.S785F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAAAACCTCTCTCCCCAGT	0.547																																						ENST00000329468.2																			0											c.(2353-2355)tCt>tTt		nuclear pore associated protein 1							116	132	126					15																	24923368		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923368C>T	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.2354C>T	15.37:g.24923368C>T	ENSP00000333735:p.Ser785Phe						p.S785F	NM_018958.2	NP_061831.2					1	2828	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2354C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.060	0.379362	0.11466	.	.	ENSG00000185823	ENST00000329468	T	0.08807	3.05	1.62	-3.24	0.05094	.	.	.	.	.	T	0.05547	0.0146	L	0.34521	1.04	0.09310	N	1	D	0.53462	0.96	B	0.41202	0.35	T	0.21484	-1.0244	9	0.72032	D	0.01	.	4.0375	0.09737	0.0:0.3387:0.4773:0.184	.	785	Q9NZP6	CO002_HUMAN	F	785	ENSP00000333735:S785F	ENSP00000333735:S785F	S	+	2	0	C15orf2	22474461	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.334000	0.07883	-0.806000	0.04398	-0.714000	0.03626	TCT		0.547	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	340	0	0	0	1	0	12	340					T	24923368	C	T	24923368	3	4	433	1	0	0	0	0	1	0	0	0	1784	913	32	2	2356	2	C15orf2	15	24923368	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		24923368	77608024	76	36927											
ZFP106	64397	broad.mit.edu	37	chr15	42714728	42714728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atagacacgaacaaatttatCcaggcaagcagtcaccatca	6	11	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:42714728C>A	ENST00000263805.4	-	15	5601	c.5275G>T	c.(5275-5277)Gat>Tat	p.D1759Y	ZNF106_ENST00000565380.1_Missense_Mutation_p.D987Y|ZNF106_ENST00000565611.1_Missense_Mutation_p.D944Y|ZNF106_ENST00000565660.1_5'UTR	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1759					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACAAATTTATCCAGGCAAGCA	0.388																																						ENST00000263805.4																			0											c.(5275-5277)Gat>Tat		zinc finger protein 106							106	95	98					15																	42714728		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42714728C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5275G>T	15.37:g.42714728C>A	ENSP00000263805:p.Asp1759Tyr					ZNF106_ENST00000565611.1_Missense_Mutation_p.D944Y|ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565380.1_Missense_Mutation_p.D987Y	p.D1759Y	NM_022473.1	NP_071918.1					15	5601	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.5275G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449131	0.84101	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	D	0.89415	-2.51	5.4	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.148571	0.64402	D	0.000011	D	0.92967	0.7762	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.936;0.994;0.983	D	0.93664	0.6984	10	0.87932	D	0	-24.7526	14.1015	0.65059	0.0:0.9282:0.0:0.0718	.	987;1759;987	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Y	1759;987	ENSP00000263805:D1759Y	ENSP00000263805:D1759Y	D	-	1	0	ZFP106	40502020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.296000	0.78790	1.523000	0.49018	0.655000	0.94253	GAT		0.388	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	101	1	0	0.000157383	1	0.000163072	8	101					A	42714728	C	A	42714728	3	1	433	1	0	0	0	0	1	0	0	0	17634	855	30	4	396	4	ZFP106	15	42714728	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	17791360	42714728	59816664	77	36928											
SEMA6D	80031	broad.mit.edu	37	chr15	48053942	48053943	+	Frame_Shift_Del	DEL	TT	TT	-													gacaaaccaatgttgccctcTttgctggtaagatcctttag							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:48053942_48053943delTT	ENST00000316364.5	+	7	971_972	c.532_533delTT	c.(532-534)tttfs	p.F178fs	SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	178	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)		TGTTGCCCTCTTTGCTGGTAAG	0.356																																						ENST00000316364.5																			0				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						c.(532-534)tfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D																																				SO:0001589	frameshift_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48053942_48053943delTT	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.532_533delTT	15.37:g.48053942_48053943delTT	ENSP00000324857:p.Phe178fs					SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs	p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	7	971_972	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	178			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Frame_Shift_Del	DEL	ENST00000316364.5	37	c.532_533delTT	CCDS32225.1																																																																																				0.356	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		18	166						18	166	---	---	---	---	-	48053943	TT	-	48053942	7	5	433	1	0	1	0	1	0	0	0	0	14042	1609	56	0	554	0	SEMA6D	15	48053942	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WL-01A-21D-A33T-08	5339214	48053942	54477450	78	36929											
DMXL2	23312	broad.mit.edu	37	chr15	51772904	51772906	+	In_Frame_Del	DEL	TCT	TCT	-													tgctctcgtttggcctgcaaTcttcttctttctatttgatg							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:51772904_51772906delTCT	ENST00000251076.5	-	24	6684_6686	c.6397_6399delAGA	c.(6397-6399)agadel	p.R2133del	DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2133						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)		TGGCCTGCAATCTTCTTCTTTCT	0.433																																						ENST00000251076.5																			0				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						c.(6397-6399)del		Dmx-like 2																																				SO:0001651	inframe_deletion	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772904_51772906delTCT	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.6397_6399delAGA	15.37:g.51772910_51772912delTCT	ENSP00000251076:p.Arg2133del					RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del	p.R2133del	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6684_6686	-			2133					B2RTR3|B7ZMH3|F5GWF1|O94938	In_Frame_Del	DEL	ENST00000251076.5	37	c.6397_6399delAGA	CCDS10141.1																																																																																				0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		91	207						91	207	---	---	---	---	-	51772906	TCT	-	51772904	7	5	433	1	0	1	0	1	0	0	0	0	4595	1432	50	0	2794	0	DMXL2	15	51772904	In_Frame_Del	DEL	TCT	TCGA-S9-A6WL-01A-21D-A33T-08	3718962	51772904	50758488	79	36930											
TLN2	83660	broad.mit.edu	37	chr15	63009793	63009793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgcagccaagcaggccGcagcggcagccacacagacc	13	15	0	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:63009793G>A	ENST00000561311.1	+	23	3012	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T	TLN2_ENST00000306829.6_Missense_Mutation_p.A928T			Q9Y4G6	TLN2_HUMAN	talin 2	928	Ala-rich.				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						CAAGCAGGCCGCAGCGGCAGC	0.557																																						ENST00000561311.1																			0				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						c.(2782-2784)Gca>Aca		talin 2							25	23	23					15																	63009793		2203	4296	6499	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63009793G>A	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.2782G>A	15.37:g.63009793G>A	ENSP00000453508:p.Ala928Thr					TLN2_ENST00000306829.6_Missense_Mutation_p.A928T	p.A928T			Q9Y4G6	TLN2_HUMAN			23	3012	+			928			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2782G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198412	0.94997	.	.	ENSG00000171914	ENST00000306829	T	0.71698	-0.59	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81634	-0.0844	10	0.49607	T	0.09	-16.1857	19.9855	0.97347	0.0:0.0:1.0:0.0	.	928	Q9Y4G6	TLN2_HUMAN	T	928	ENSP00000303476:A928T	ENSP00000303476:A928T	A	+	1	0	TLN2	60797085	1.000000	0.71417	0.993000	0.49108	0.720000	0.41350	9.751000	0.98889	2.806000	0.96561	0.655000	0.94253	GCA		0.557	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	18	0	0	0	1	0	3	18					A	63009793	G	A	63009793	3	1	433	1	0	0	0	0	1	0	0	0	15945	1087	38	1	2864	1	TLN2	15	63009793	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	11236889	63009793	39521599	80	36931											
KBTBD13	390594	broad.mit.edu	37	chr15	65369306	65369306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagaggtgcgcctgggCgttctgagcgcgggaggttt	19	9	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:65369306C>T	ENST00000432196.2	+	1	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G	RASL12_ENST00000434605.2_5'Flank	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	51	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(1)|prostate(1)|skin(1)	3						TGCGCCTGGGCGTTCTGAGCG	0.736																																						ENST00000432196.2																			0				lung(1)|prostate(1)|skin(1)	3						c.(151-153)ggC>ggT		kelch repeat and BTB (POZ) domain containing 13							6	7	7					15																	65369306		1831	3954	5785	SO:0001819	synonymous_variant	390594					cytoplasm		g.chr15:65369306C>T		CCDS45281.1	15q22.31	2014-09-17			ENSG00000234438	ENSG00000234438		"BTB/POZ domain containing"	37227	protein-coding gene	gene with protein product	"nemaline myopathy type 6"	613727				21109227, 22542517	Standard	NM_001101362		Approved	hCG_1645727, NEM6	uc010uis.2	C9JR72		ENST00000432196.2:c.153C>T	15.37:g.65369306C>T							p.G51G	NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN			1	153	+			51			BTB.			Silent	SNP	ENST00000432196.2	37	c.153C>T	CCDS45281.1																																																																																				0.736	KBTBD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418468.2	NM_001101362		4	7	0	0	0	1	0	4	7					T	65369306	C	T	65369306	2	4	433	1	0	0	0	0	0	0	0	1	7992	755	27	1		1	KBTBD13	15	65369306	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	2359513	65369306	37162086	81	36932											
DNAJA4	55466	broad.mit.edu	37	chr15	78566734	78566736	+	In_Frame_Del	DEL	AGA	AGA	-													cggggccaaggtgatccgtgAgaagaagattatcgaggtac							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:78566734_78566736delAGA	ENST00000394852.3	+	4	804_806	c.614_616delAGA	c.(613-618)gagaag>gag	p.K207del	DNAJA4_ENST00000394855.3_In_Frame_Del_p.K236del|DNAJA4_ENST00000446172.2_In_Frame_Del_p.K180del|DNAJA4_ENST00000343789.3_In_Frame_Del_p.K207del	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	207					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGATCCGTGAGAAGAAGATTAT	0.576																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(700-705)gag>g		DnaJ (Hsp40) homolog, subfamily A, member 4																																				SO:0001651	inframe_deletion	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78566734_78566736delAGA	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"Heat shock proteins / DNAJ (HSP40)"	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.614_616delAGA	15.37:g.78566740_78566742delAGA	ENSP00000378321:p.Lys207del					DNAJA4_ENST00000446172.2_In_Frame_Del_p.EK178del|DNAJA4_ENST00000394852.3_In_Frame_Del_p.EK205del|DNAJA4_ENST00000343789.3_In_Frame_Del_p.EK205del	p.EK234del	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			5	929_931	+			205					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	In_Frame_Del	DEL	ENST00000394852.3	37	c.701_703delAGA	CCDS45316.1																																																																																				0.576	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		35	72						35	72	---	---	---	---	-	78566736	AGA	-	78566734	7	5	433	1	0	1	0	1	0	0	0	0	4614	304	11	0	774	0	DNAJA4	15	78566734	In_Frame_Del	DEL	AGA	TCGA-S9-A6WL-01A-21D-A33T-08	13197428	78566734	23964658	82	36933											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25268072	25268075	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gctgtcttagtcttccagtcTctttctccaaatgcactacc							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:25268072_25268075delTCTT	ENST00000328086.7	-	1	1177_1180	c.374_377delAAGA	c.(373-378)aaagagfs	p.KE125fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	125	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)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTCCAGTCTCTTTCTCCAAATG	0.475																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(373-378)agfs		zinc finger with KRAB and SCAN domains 2																																				SO:0001589	frameshift_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25268072_25268075delTCTT	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.374_377delAAGA	16.37:g.25268072_25268075delTCTT	ENSP00000331626:p.Lys125fs						p.KE125fs	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	1	1177_1180	-			125			SCAN box.		A1L3B4|Q6ZN77	Frame_Shift_Del	DEL	ENST00000328086.7	37	c.374_377delAAGA	CCDS32410.1																																																																																				0.475	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		71	119						71	119	---	---	---	---	-	25268075	TCTT	-	25268072	7	5	433	1	0	1	0	1	0	0	0	0	17684	1551	54	0	2554	0	ZKSCAN2	16	25268072	Frame_Shift_Del	DEL	TCTT	TCGA-S9-A6WL-01A-21D-A33T-08		25268072	65086681	83	36934											
MMP15	4324	broad.mit.edu	37	chr16	58077146	58077146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctctttcgagaagcgaacCtggagcccggctacccacag	12	14	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:58077146C>G	ENST00000219271.3	+	8	2121	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	446					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	AGAAGCGAACCTGGAGCCCGG	0.632																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1336-1338)Ctg>Gtg		matrix metallopeptidase 15 (membrane-inserted)							32	32	32					16																	58077146		2198	4298	6496	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58077146C>G	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1336C>G	16.37:g.58077146C>G	ENSP00000219271:p.Leu446Val						p.L446V	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			8	2121	+			446			Hemopexin-like 2.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1336C>G	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018113	0.35606	.	.	ENSG00000102996	ENST00000219271	T	0.02158	4.42	5.32	5.32	0.75619	Hemopexin/matrixin (2);	0.070088	0.64402	D	0.000014	T	0.02888	0.0086	N	0.21373	0.66	0.58432	D	0.999999	B	0.28082	0.2	B	0.37198	0.243	T	0.60000	-0.7348	10	0.11794	T	0.64	.	17.5771	0.87953	0.0:1.0:0.0:0.0	.	446	P51511	MMP15_HUMAN	V	446	ENSP00000219271:L446V	ENSP00000219271:L446V	L	+	1	2	MMP15	56634647	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.143000	0.42187	2.492000	0.84095	0.655000	0.94253	CTG		0.632	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		9	19	0	0	0	1	0	9	19					G	58077146	C	G	58077146	3	3	433	1	0	0	0	0	1	0	0	0	9654	680	24	4	1366	4	MMP15	16	58077146	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	32809074	58077146	32277607	84	36935											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461496	76461499	+	Splice_Site	DEL	AGTA	AGTA	-													aagtgttcggatgtgcatacAgtaagtgtttgtttatccaa							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:76461496_76461499delAGTA	ENST00000476707.1	+	3	686	c.547delAGTA	c.(547-549)agt>gt	p.S184fs	CNTNAP4_ENST00000377504.4_Splice_Site_p.S180fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Splice_Site_p.S156fs|CNTNAP4_ENST00000307431.8_Splice_Site_p.S180fs			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	181					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						ATGTGCATACAGTAAGTGTTTGTT	0.392																																						ENST00000307431.8																			0				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						c.e5+1		contactin associated protein-like 4																																				SO:0001630	splice_region_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461496_76461499delAGTA	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.547+1AGTA>-	16.37:g.76461496_76461499delAGTA						CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.179_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.155_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.183_splice	p.179_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			5	920	+			180					E9PFZ6|Q86YZ7	Splice_Site	DEL	ENST00000476707.1	37	c.535_splice																																																																																					0.392	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Frame_Shift_Del	13	72						13	72	---	---	---	---	-	76461499	AGTA	-	76461496	8	5	433	1	0	1	0	1	0	0	1	0	3649	202	7	0	565	0	CNTNAP4	16	76461496	Splice_Site	DEL	AGTA	TCGA-S9-A6WL-01A-21D-A33T-08	18384350	76461496	13893257	85	36936											
OR1A2	26189	broad.mit.edu	37	chr17	3101421	3101421	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgatgtacctaggggtCggcgttttctctttgccatt	11	8	1	2	rs150553361	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:3101421C>T	ENST00000381951.1	+	1	609	c.609C>T	c.(607-609)gtC>gtT	p.V203V		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	203					positive regulation of cytokinesis (GO:0032467)	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)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ACCTAGGGGTCGGCGTTTTCT	0.433													C|||	5	0.000998403	0.003	0.0014	5008	,	,		20606	0.0		0.0	False		,,,				2504	0.0					ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(607-609)gtC>gtT		olfactory receptor, family 1, subfamily A, member 2		C		2,4404	4.2+/-10.8	0,2,2201	243	199	214		609	-6.8	0	17	dbSNP_134	214	0,8600		0,0,4300	no	coding-synonymous	OR1A2	NM_012352.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		203/310	3101421	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101421C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.609C>T	17.37:g.3101421C>T							p.V203V	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	609	+			203					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.609C>T	CCDS11021.1																																																																																				0.433	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		139	255	0	0	0	1	0	139	255					T	3101421	C	T	3101421	2	4	433	1	0	0	0	0	0	0	0	1	10950	871	31	1		1	OR1A2	17	3101421	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		3101421	78093789	86	36937											
SLC47A2	146802	broad.mit.edu	37	chr17	19583320	19583322	+	In_Frame_Del	DEL	CTG	CTG	-													gttgcagtgctctctgctctCtgctgctgctgccggcctga							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:19583320_19583322delCTG	ENST00000325411.5	-	16	1581_1583	c.1531_1533delCAG	c.(1531-1533)cagdel	p.Q511del	SLC47A2_ENST00000350657.5_In_Frame_Del_p.Q489del|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	511	Poly-Gln.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TCTCTGCTCTCTGCTGCTGCTGC	0.502																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1465-1467)del		solute carrier family 47 (multidrug and toxin extrusion), member 2																																				SO:0001651	inframe_deletion	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19583320_19583322delCTG	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1531_1533delCAG	17.37:g.19583329_19583331delCTG	ENSP00000326671:p.Gln511del					SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_In_Frame_Del_p.Q511del	p.Q489del	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			17	1639_1641	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		511					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	In_Frame_Del	DEL	ENST00000325411.5	37	c.1465_1467delCAG	CCDS11211.1																																																																																				0.502	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		8	138						8	138	---	---	---	---	-	19583322	CTG	-	19583320	7	5	433	1	0	1	0	1	0	0	0	0	14648	912	32	0	283	0	SLC47A2	17	19583320	In_Frame_Del	DEL	CTG	TCGA-S9-A6WL-01A-21D-A33T-08	16481899	19583320	61611890	87	36938											
DNAJC7	7266	broad.mit.edu	37	chr17	40133976	40133978	+	In_Frame_Del	DEL	CTT	CTT	-													gcctctccaacttccttgaaCttcttctcctcctccttctg							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:40133976_40133978delCTT	ENST00000457167.4	-	12	1515_1517	c.1279_1281delAAG	c.(1279-1281)aagdel	p.K427del	DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	427	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTCCTTGAACTTCTTCTCCTCC	0.458																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1279-1281)del		DnaJ (Hsp40) homolog, subfamily C, member 7																																				SO:0001651	inframe_deletion	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40133976_40133978delCTT	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1279_1281delAAG	17.37:g.40133979_40133981delCTT	ENSP00000406463:p.Lys427del					DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	p.K427del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			12	1515_1517	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	427			J.		Q7Z784	In_Frame_Del	DEL	ENST00000457167.4	37	c.1279_1281delAAG	CCDS45677.1																																																																																				0.458	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			17	145						17	145	---	---	---	---	-	40133978	CTT	-	40133976	7	5	433	1	0	1	0	1	0	0	0	0	4654	564	20	0	215	0	DNAJC7	17	40133976	In_Frame_Del	DEL	CTT	TCGA-S9-A6WL-01A-21D-A33T-08	20550656	40133976	41061234	88	36939											
MTMR4	9110	broad.mit.edu	37	chr17	56569912	56569913	+	Frame_Shift_Del	DEL	CA	CA	-													ggccaaccagaattcacagtCacagttatagcagtgtgatg							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:56569912_56569913delCA	ENST00000323456.5	-	18	3493_3494	c.3369_3370delTG	c.(3367-3372)tgtgacfs	p.CD1123fs	MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1123					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)					AATTCACAGTCACAGTTATAGC	0.46																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3367-3372)tgacfs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56569912_56569913delCA	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.3369_3370delTG	17.37:g.56569914_56569915delCA	ENSP00000325285:p.Cys1123fs					MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	p.CD1123fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			18	3493_3494	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1123					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Del	DEL	ENST00000323456.5	37	c.3369_3370delTG	CCDS11608.1																																																																																				0.46	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		34	572						34	572	---	---	---	---	-	56569913	CA	-	56569912	7	5	433	1	0	1	0	1	0	0	0	0	9946	826	29	0	225	0	MTMR4	17	56569912	Frame_Shift_Del	DEL	CA	TCGA-S9-A6WL-01A-21D-A33T-08	16435936	56569912	24625298	89	36940											
TEX2	55852	broad.mit.edu	37	chr17	62238162	62238164	+	Splice_Site	DEL	CTT	CTT	-													ttcatatatagccccttaccCttctttgccaatttctccaa							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:62238162_62238164delCTT	ENST00000583097.1	-	8	2973_2975	c.2801_2803delAAG	c.(2800-2805)gaaggt>ggt	p.E934del	TEX2_ENST00000258991.3_Splice_Site_p.E941del|TEX2_ENST00000584379.1_Splice_Site_p.E934del			Q8IWB9	TEX2_HUMAN	testis expressed 2	934					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCCCTTACCCTTCTTTGCCAAT	0.458																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.e8+1		testis expressed 2																																				SO:0001630	splice_region_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62238162_62238164delCTT	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2804+1AAG>-	17.37:g.62238165_62238167delCTT						TEX2_ENST00000584379.1_Splice_Site_p.EG934_splice|TEX2_ENST00000583097.1_Splice_Site_p.EG934_splice	p.EG941_splice			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	8	2906_2908	-			934					Q6AHZ5|Q8N3L0|Q9C0C5	Splice_Site	DEL	ENST00000583097.1	37	c.2825_splice																																																																																					0.458	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	In_Frame_Del	7	653						7	653	---	---	---	---	-	62238164	CTT	-	62238162	8	5	433	1	0	1	0	1	0	0	1	0	15778	695	24	0	600	0	TEX2	17	62238162	Splice_Site	DEL	CTT	TCGA-S9-A6WL-01A-21D-A33T-08	5668250	62238162	18957048	90	36941											
UPF1	5976	broad.mit.edu	37	chr19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatcaccttgtgaggGcaaaatgcaaagaggtgacc	11	7	1	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:18960909G>A	ENST00000599848.1	+	4	696	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000262803.5_Missense_Mutation_p.A163T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517																																						ENST00000262803.5																			1	Substitution - Missense(1)	p.A163T(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(487-489)Gca>Aca		UPF1 regulator of nonsense transcripts homolog (yeast)							89	88	88					19																	18960909		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18960909G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.487G>A	19.37:g.18960909G>A	ENSP00000470142:p.Ala163Thr					UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T	p.A163T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			4	759	+			163			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.487G>A		.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA		0.517	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		4	201	0	0	0	1	0	4	201					A	18960909	G	A	18960909	3	1	433	1	0	0	0	0	1	0	0	0	17000	1203	42	2	501	2	UPF1	19	18960909	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		18960909	40168074	91	36942											
NCCRP1	342897	broad.mit.edu	37	chr19	39691074	39691074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacggtcattgctcagcacCacgtggccccccgaacttct	9	17	3	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:39691074C>A	ENST00000339852.4	+	5	659	c.637C>A	c.(637-639)Cac>Aac	p.H213N		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	213	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGCTCAGCACCACGTGGCCCC	0.682																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(637-639)Cac>Aac		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							66	75	72					19																	39691074		2202	4299	6501	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691074C>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.637C>A	19.37:g.39691074C>A	ENSP00000342137:p.His213Asn						p.H213N	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	659	+			213			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.637C>A	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	8.124	0.781496	0.16120	.	.	ENSG00000188505	ENST00000339852	T	0.28069	1.63	5.23	4.13	0.48395	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.287421	0.39407	N	0.001363	T	0.17152	0.0412	N	0.22421	0.69	0.33290	D	0.563342	B	0.29909	0.261	B	0.26517	0.07	T	0.15578	-1.0432	10	0.22109	T	0.4	-32.9454	8.0892	0.30790	0.1778:0.6503:0.1719:0.0	.	213	Q6ZVX7	NCRP1_HUMAN	N	213	ENSP00000342137:H213N	ENSP00000342137:H213N	H	+	1	0	NCCRP1	44382914	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	1.948000	0.40303	2.455000	0.83008	0.561000	0.74099	CAC		0.682	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		57	97	1	0	7.41606e-26	1	8.17668e-26	57	97					A	39691074	C	A	39691074	3	1	433	1	0	0	0	0	1	0	0	0	10213	594	21	4	655	4	NCCRP1	19	39691074	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	20730165	39691074	19437909	92	36943											
SCAF1	58506	broad.mit.edu	37	chr19	50157637	50157637	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcaagatggaagaagcCaacctggcgagccgagcgaa	12	11	2	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:50157637C>A	ENST00000360565.3	+	8	3472	c.3348C>A	c.(3346-3348)gcC>gcA	p.A1116A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1116					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGAAGAAGCCAACCTGGCGA	0.597																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3346-3348)gcC>gcA		SR-related CTD-associated factor 1							30	29	29					19																	50157637		2202	4300	6502	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50157637C>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3348C>A	19.37:g.50157637C>A							p.A1116A	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	8	3472	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1116					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.3348C>A	CCDS33074.1																																																																																				0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	51	1	0	1	1	1	3	51					A	50157637	C	A	50157637	2	1	433	1	0	0	0	0	0	0	0	1	13868	581	21	4		4	SCAF1	19	50157637	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10466563	50157637	8971346	93	36944											
HAO1	54363	broad.mit.edu	37	chr20	7866234	7866234	+	Frame_Shift_Del	DEL	C	C	-													gacatcttgaacacctttctCcccctaaccaagtgaaaaga							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:7866234delC	ENST00000378789.3	-	7	1027	c.976delG	c.(976-978)gagfs	p.E326fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	326	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|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)	p.E326*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACACCTTTCTCCCCCTAACCA	0.363																																						ENST00000378789.3																			1	Substitution - Nonsense(1)	p.E326*(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(976-978)agfs		hydroxyacid oxidase (glycolate oxidase) 1							103	90	95					20																	7866234		2203	4300	6503	SO:0001589	frameshift_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866234delC	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.976delG	20.37:g.7866234delC	ENSP00000368066:p.Glu326fs						p.E326fs	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			7	1027	-			326			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Frame_Shift_Del	DEL	ENST00000378789.3	37	c.976delG	CCDS13100.1																																																																																				0.363	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			8	110						8	110	---	---	---	---	-	7866234	C	-	7866234	7	5	433	1	0	1	0	1	0	0	0	0	6951	864	30	0	144	0	HAO1	20	7866234	Frame_Shift_Del	DEL	C	TCGA-S9-A6WL-01A-21D-A33T-08		7866234	55159286	94	36945											
DSTN	11034	broad.mit.edu	37	chr20	17581431	17581431	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcgcattttttatgacAtgaaagttcgtaaatgctcc	7	7	0	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:17581431A>C	ENST00000246069.7	+	2	398	c.52A>C	c.(52-54)Atg>Ctg	p.M18L	DSTN_ENST00000474024.1_Start_Codon_SNP_p.M1L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	18	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTTTTATGACATGAAAGTTCG	0.358																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(52-54)Atg>Ctg		destrin (actin depolymerizing factor)							35	35	35					20																	17581431		2203	4296	6499	SO:0001583	missense	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581431A>C	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.52A>C	20.37:g.17581431A>C	ENSP00000246069:p.Met18Leu					DSTN_ENST00000543261.1_Start_Codon_SNP_p.M1L|DSTN_ENST00000474024.1_3'UTR	p.M18L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	398	+			18			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	c.52A>C	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006924	0.54361	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.25250	1.81;1.81	5.65	4.51	0.55191	Actin-binding, cofilin/tropomyosin type (1);	0.033975	0.85682	D	0.000000	T	0.14743	0.0356	N	0.16266	0.395	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.08597	-1.0714	10	0.13108	T	0.6	-21.7963	12.2325	0.54497	0.8584:0.1416:0.0:0.0	.	18	P60981	DEST_HUMAN	L	18;1	ENSP00000246069:M18L;ENSP00000444808:M1L	ENSP00000246069:M18L	M	+	1	0	DSTN	17529431	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.248000	0.95456	2.166000	0.68216	0.460000	0.39030	ATG		0.358	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		4	99	0	0	0	1	0	4	99					C	17581431	A	C	17581431	3	2	433	1	0	0	0	0	1	0	0	0	4784	217	8	5	58	5	DSTN	20	17581431	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	9715197	17581431	45444089	95	36946											
C20orf26	26074	broad.mit.edu	37	chr20	20056149	20056149	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggctcaactctcataacTgtttttgaccaagtggggaa	9	8	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:20056149T>C	ENST00000245957.5	+	6	532	c.456T>C	c.(454-456)acT>acC	p.T152T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		152										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)		CTCTCATAACTGTTTTTGACC	0.403																																						ENST00000245957.5																			0				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						c.(454-456)acT>acC		chromosome 20 open reading frame 26							135	131	132					20																	20056149		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20056149T>C																												ENST00000245957.5:c.456T>C	20.37:g.20056149T>C						C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR	p.T152T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	6	532	+			152					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.456T>C	CCDS33447.1																																																																																				0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			65	194	0	0	0	1	0	65	194					C	20056149	T	C	20056149	2	2	433	1	0	0	0	0	0	0	0	1	2106	1567	55	3		3	C20orf26	20	20056149	Silent	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2474718	20056149	42969371	96	36947											
TPX2	22974	broad.mit.edu	37	chr20	30345320	30345320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattcctatgatgccccctCggatttcatcaatttttcat	4	11	3	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:30345320C>T	ENST00000300403.6	+	3	569	c.41C>T	c.(40-42)tCg>tTg	p.S14L	TPX2_ENST00000340513.4_Missense_Mutation_p.S14L	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	14					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATGCCCCCTCGGATTTCATC	0.398																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(40-42)tCg>tTg		TPX2, microtubule-associated							174	163	167					20																	30345320		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30345320C>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.41C>T	20.37:g.30345320C>T	ENSP00000300403:p.Ser14Leu					TPX2_ENST00000300403.6_Missense_Mutation_p.S14L	p.S14L			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		3	569	+			14					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.41C>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	7.411	0.634832	0.14322	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.31247	1.5	4.99	-0.32	0.12721	Aurora-A binding (1);	0.744667	0.12311	N	0.480226	T	0.16938	0.0407	N	0.24115	0.695	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.13407	0.009;0.005	T	0.20140	-1.0284	10	0.66056	D	0.02	-0.8177	3.8753	0.09054	0.1587:0.4938:0.0:0.3475	.	14;14	Q96RR5;Q9ULW0	.;TPX2_HUMAN	L	14	ENSP00000341145:S14L	ENSP00000300403:S14L	S	+	2	0	TPX2	29808981	0.549000	0.26481	0.170000	0.22879	0.003000	0.03518	0.034000	0.13776	-0.091000	0.12440	-1.083000	0.02208	TCG		0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			11	159	0	0	0	1	0	11	159					T	30345320	C	T	30345320	3	4	433	1	0	0	0	0	1	0	0	0	16429	893	31	1	43	1	TPX2	20	30345320	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10289171	30345320	32680200	97	36948											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296758	28296758	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatagttcatgactgttcCattgatgtcaatgatagtct	8	7	3	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:28296758C>A	ENST00000284987.5	-	8	2528	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	803	Spacer.				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						ATGACTGTTCCATTGATGTCA	0.433																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				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						c.(2407-2409)Gga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 5							195	186	189					21																	28296758		2203	4300	6503	SO:0001587	stop_gained	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296758C>A	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.2407G>T	21.37:g.28296758C>A	ENSP00000284987:p.Gly803*					AP001601.2_ENST00000426771.1_RNA	p.G803*	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2528	-			803			Spacer.		Q52LV4|Q9UKP2	Nonsense_Mutation	SNP	ENST00000284987.5	37	c.2407G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	40	8.222571	0.98714	.	.	ENSG00000154736	ENST00000284987	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	.	.	.	X	803	.	ENSP00000284987:G803X	G	-	1	0	ADAMTS5	27218629	1.000000	0.71417	0.834000	0.33040	0.989000	0.77384	7.463000	0.80869	2.769000	0.95229	0.655000	0.94253	GGA		0.433	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	430	1	0	0.000157383	1	0.000163072	8	430					A	28296758	C	A	28296758	4	1	433	1	0	0	0	0	0	1	0	0	269	603	21	4	389	4	ADAMTS5	21	28296758	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		28296758	19833137	98	36949											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859629	31859629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagccatagcccagtctGcagaagctgccacatccaca	8	17	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:31859629G>A	ENST00000334055.3	-	1	126	c.39C>T	c.(37-39)tgC>tgT	p.C13C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCCAGTCTGCAGAAGCTGC	0.562																																						ENST00000334055.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(37-39)tgC>tgT		keratin associated protein 19-2							146	144	145					21																	31859629		2203	4300	6503	SO:0001819	synonymous_variant	337969					intermediate filament		g.chr21:31859629G>A	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"Keratin associated proteins"	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.39C>T	21.37:g.31859629G>A							p.C13C	NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN			1	126	-			13						Silent	SNP	ENST00000334055.3	37	c.39C>T	CCDS13595.1																																																																																				0.562	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			5	402	0	0	0	1	0	5	402					A	31859629	G	A	31859629	2	1	433	1	0	0	0	0	0	0	0	1	8529	1311	46	2		2	KRTAP19-2	21	31859629	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3562871	31859629	16270266	99	36950											
MX2	4600	broad.mit.edu	37	chr21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagtatcgaggcaaggAgcttctgggatttgtcaact	12	7	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	491					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1471-1473)gAg>gGg		myxovirus (influenza virus) resistance 2 (mouse)							128	121	124					21																	42773954		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42773954A>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1472A>G	21.37:g.42773954A>G	ENSP00000333657:p.Glu491Gly					MX2_ENST00000496774.1_3'UTR	p.E491G	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			11	1656	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	491					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1472A>G	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666438	0.67814	.	.	ENSG00000183486	ENST00000330714	T	0.74842	-0.88	3.69	3.69	0.42338	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.84585	2.705	0.80722	D	1	P	0.37636	0.603	P	0.51945	0.685	D	0.86259	0.1654	10	0.87932	D	0	.	11.9258	0.52819	1.0:0.0:0.0:0.0	.	491	P20592	MX2_HUMAN	G	491	ENSP00000333657:E491G	ENSP00000333657:E491G	E	+	2	0	MX2	41695824	1.000000	0.71417	0.532000	0.27989	0.544000	0.35116	7.542000	0.82095	1.641000	0.50575	0.456000	0.33151	GAG		0.433	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		7	201	0	0	0	1	0	7	201					G	42773954	A	G	42773954	3	3	433	1	0	0	0	0	1	0	0	0	9998	304	11	3	1510	3	MX2	21	42773954	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	10914325	42773954	5355941	100	36951											
MAP3K15	389840	broad.mit.edu	37	chrX	19443789	19443789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctcccttttcttcccaaCaaactgttcagccggacacc	5	16	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:19443789C>A	ENST00000338883.4	-	9	1298	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F	MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	433							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)					TTCTTCCCAACAAACTGTTCA	0.413																																						ENST00000338883.4																			0				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						c.(1297-1299)ttG>ttT		mitogen-activated protein kinase kinase kinase 15							74	56	61					X																	19443789		1568	3582	5150	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19443789C>A	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.1299G>T	X.37:g.19443789C>A	ENSP00000345629:p.Leu433Phe					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000359173.3_5'UTR	p.L433F	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			9	1298	-	Hepatocellular(33;0.183)		433					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1299G>T		.	.	.	.	.	.	.	.	.	.	C	17.07	3.295570	0.60086	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.13538	2.58;2.58	5.82	0.957	0.19613	.	0.000000	0.64402	D	0.000002	T	0.22936	0.0554	M	0.81341	2.54	0.47441	D	0.999427	.	.	.	.	.	.	T	0.02471	-1.1154	8	0.66056	D	0.02	.	1.9481	0.03361	0.1277:0.3767:0.1226:0.373	.	.	.	.	F	433;265	ENSP00000345629:L433F;ENSP00000428356:L265F	ENSP00000345629:L433F	L	-	3	2	MAP3K15	19353710	0.988000	0.35896	0.946000	0.38457	0.989000	0.77384	0.279000	0.18771	0.042000	0.15717	0.591000	0.81541	TTG		0.413	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		3	28	1	0	0.115264	1	0.118008	3	28					A	19443789	C	A	19443789	3	1	433	1	0	0	0	0	1	0	0	0	9249	477	17	4	2726	4	MAP3K15	23	19443789	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		19443789	135826771	101	36952											
BCOR	54880	broad.mit.edu	37	chrX	39932273	39932274	+	Frame_Shift_Ins	INS	-	-	T													tcggtggggacatctggatgINStaacttggtgctgctagttt							TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:39932273_39932274insT	ENST00000378444.4	-	4	2553_2554	c.2325_2326insA	c.(2323-2328)ttacatfs	p.H776fs	BCOR_ENST00000378455.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.H776fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	776					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						ACATCTGGATGTAACTTGGTGC	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(2323-2328)ttatccfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932273_39932274insT	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.2326dupA	X.37:g.39932274_39932274dupT	ENSP00000367705:p.His776fs					BCOR_ENST00000397354.3_Frame_Shift_Ins_p.S776fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.S776fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.S776fs	p.S776fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2687_2688	-			776					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.2325_2326insA	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		55	225						55	225	---	---	---	---	T	39932274	-	T	39932273	7	5	433	1	0	1	1	0	0	0	0	0	1386	1377	48	0	2989	0	BCOR	23	39932273	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	20488484	39932273	115338287	102	36953											
ZBTB33	10009	broad.mit.edu	37	chrX	119388487	119388487	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatgatccaggcgtaggatCaaaacatctaatggagggtc	11	7	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:119388487C>A	ENST00000326624.2	+	2	1445	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	406					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						GGCGTAGGATCAAAACATCTA	0.358																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1216-1218)tCa>tAa		zinc finger and BTB domain containing 33							68	69	69					X																	119388487		2203	4300	6503	SO:0001587	stop_gained	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388487C>A	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.1217C>A	X.37:g.119388487C>A	ENSP00000314153:p.Ser406*					ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1445	+			406					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Nonsense_Mutation	SNP	ENST00000326624.2	37	c.1217C>A	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.937096	0.97122	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	.	.	.	5.55	4.68	0.58851	.	0.343077	0.24825	N	0.035287	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4751	12.5825	0.56397	0.0:0.9183:0.0:0.0817	.	.	.	.	X	406	.	ENSP00000314153:S406X	S	+	2	0	ZBTB33;AC002086.1	119272515	0.878000	0.30173	0.663000	0.29738	0.945000	0.59286	2.698000	0.47068	1.218000	0.43458	0.513000	0.50165	TCA		0.358	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		6	111	1	0	3.59834e-05	1	3.82046e-05	6	111					A	119388487	C	A	119388487	4	1	433	1	0	0	0	0	0	1	0	0	17533	838	29	4	1219	4	ZBTB33	23	119388487	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	79456214	119388487	35882073	103	36954											
HTR6	3362	broad.mit.edu	37	chr1	19992358	19992358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgtgcgtggtcatcGcgctgacggcggcggccaac	16	15	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:19992358G>A	ENST00000289753.1	+	1	579	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	38					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)	CGTGGTCATCGCGCTGACGGC	0.731																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(112-114)Gcg>Acg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						8	7	8					1																	19992358		2132	4163	6295	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992358G>A	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.112G>A	1.37:g.19992358G>A	ENSP00000289753:p.Ala38Thr						p.A38T	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		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)	1	579	+		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)	38					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.112G>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827331	0.50739	.	.	ENSG00000158748	ENST00000289753	T	0.37235	1.21	3.45	2.51	0.30379	.	0.436161	0.21702	U	0.070403	T	0.12135	0.0295	N	0.08118	0	0.22666	N	0.998878	P	0.36483	0.555	B	0.27262	0.078	T	0.08452	-1.0721	9	.	.	.	.	2.5893	0.04838	0.1096:0.18:0.526:0.1844	.	38	P50406	5HT6R_HUMAN	T	38	ENSP00000289753:A38T	.	A	+	1	0	HTR6	19864945	0.391000	0.25221	0.996000	0.52242	0.946000	0.59487	0.626000	0.24492	0.773000	0.33404	0.313000	0.20887	GCG		0.731	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		14	11	0	0	0	1	0	14	11					A	19992358	G	A	19992358	3	1	434	1	0	0	0	0	1	0	0	0	7451	1087	38	1	114	1	HTR6	1	19992358	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		19992358	229258263	1	36955											
MAP3K6	9064	broad.mit.edu	37	chr1	27682984	27682984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccttccccgccaggatttCgcgcagcctgtggggcgcag	13	15	0	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:27682984C>T	ENST00000493901.1	-	27	3771	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K|MAP3K6_ENST00000374040.3_Missense_Mutation_p.E1170K	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1178					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)		GCCAGGATTTCGCGCAGCCTG	0.627																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(3508-3510)Gaa>Aaa		mitogen-activated protein kinase kinase kinase 6							31	35	34					1																	27682984		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27682984C>T	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.3532G>A	1.37:g.27682984C>T	ENSP00000419591:p.Glu1178Lys					MAP3K6_ENST00000493901.1_Missense_Mutation_p.E1178K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K	p.E1170K			O95382	M3K6_HUMAN		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)	25	3768	-		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)	1178					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3508G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304964	0.40795	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000374036;ENST00000357582	T;T;T	0.69306	-0.39;-0.39;-0.39	5.45	1.47	0.22746	.	.	.	.	.	T	0.50137	0.1598	L	0.43152	1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34279	-0.9835	8	.	.	.	.	1.4231	0.02317	0.1443:0.4471:0.1585:0.2501	.	1170;1178	O95382-3;O95382	.;M3K6_HUMAN	K	1170;1178;16;1178	ENSP00000363152:E1170K;ENSP00000419591:E1178K;ENSP00000350195:E1178K	.	E	-	1	0	MAP3K6	27555571	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-0.497000	0.06428	0.012000	0.14892	-0.211000	0.12701	GAA		0.627	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		25	28	0	0	0	1	0	25	28					T	27682984	C	T	27682984	3	4	434	1	0	0	0	0	1	0	0	0	9254	893	31	1	350	1	MAP3K6	1	27682984	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	7690626	27682984	221567637	2	36956											
ROR1	4919	broad.mit.edu	37	chr1	64644134	64644134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagggccagattgctGgtttcattggcccgccaata	10	13	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:64644134G>A	ENST00000371079.1	+	9	2785	c.2410G>A	c.(2410-2412)Ggt>Agt	p.G804S	ROR1_ENST00000545203.1_Missense_Mutation_p.G255S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	804	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAGATTGCTGGTTTCATTGG	0.512																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(2410-2412)Ggt>Agt		receptor tyrosine kinase-like orphan receptor 1							68	67	68					1																	64644134		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64644134G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2410G>A	1.37:g.64644134G>A	ENSP00000360120:p.Gly804Ser					ROR1_ENST00000545203.1_Missense_Mutation_p.G255S	p.G804S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2785	+			804			Pro-rich.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2410G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626822	0.87560	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.78816	-0.9;-1.21	6.02	6.02	0.97574	.	0.000000	0.43919	D	0.000519	T	0.69584	0.3127	L	0.29908	0.895	0.80722	D	1	P	0.48294	0.908	P	0.46585	0.521	T	0.74077	-0.3781	10	0.72032	D	0.01	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	804	Q01973	ROR1_HUMAN	S	804;807;255	ENSP00000360120:G804S;ENSP00000441637:G255S	ENSP00000360120:G804S	G	+	1	0	ROR1	64416722	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.408000	0.66368	2.865000	0.98341	0.655000	0.94253	GGT		0.512	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		10	178	0	0	0	1	0	10	178					A	64644134	G	A	64644134	3	1	434	1	0	0	0	0	1	0	0	0	13526	1348	47	2	2452	2	ROR1	1	64644134	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	36961150	64644134	184606487	3	36957											
EPHX4	253152	broad.mit.edu	37	chr1	92528675	92528675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgtggggagagaatgaCgcattcatggaggttgagat	15	5	1	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:92528675C>T	ENST00000370383.4	+	7	1019	c.921C>T	c.(919-921)gaC>gaT	p.D307D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	307						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GAGAGAATGACGCATTCATGG	0.418																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(919-921)gaC>gaT		epoxide hydrolase 4							133	137	136					1																	92528675		2203	4300	6503	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92528675C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.921C>T	1.37:g.92528675C>T							p.D307D	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			7	1019	+			307					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.921C>T	CCDS736.1																																																																																				0.418	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		21	270	0	0	0	1	0	21	270					T	92528675	C	T	92528675	2	4	434	1	0	0	0	0	0	0	0	1	5182	535	19	1		1	EPHX4	1	92528675	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	27884541	92528675	156721946	4	36958											
RYR2	6262	broad.mit.edu	37	chr1	237947385	237947385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaattagcagagagcGtcctgaattatttccagccc	9	10	1	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:237947385G>A	ENST00000366574.2	+	90	12690	c.12373G>A	c.(12373-12375)Gtc>Atc	p.V4125I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4125					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)	p.V4123I(1)		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)			AGCAGAGAGCGTCCTGAATTA	0.512																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.V4123I(1)	upper_aerodigestive_tract(1)	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						c.(12373-12375)Gtc>Atc		ryanodine receptor 2 (cardiac)							63	63	63					1																	237947385		1920	4137	6057	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947385G>A	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.12373G>A	1.37:g.237947385G>A	ENSP00000355533:p.Val4125Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I	p.V4125I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12690	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4125					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12373G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449966	0.43531	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96265	-3.96;-3.96;-3.96	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000029	D	0.96237	0.8773	L	0.34521	1.04	0.80722	D	1	D;P	0.76494	0.999;0.89	D;B	0.76071	0.987;0.153	D	0.95115	0.8241	10	0.36615	T	0.2	.	12.7826	0.57485	0.0749:0.0:0.9251:0.0	.	1099;4125	B4DGV4;Q92736	.;RYR2_HUMAN	I	4125;4131;4109;1099	ENSP00000355533:V4125I;ENSP00000353174:V4131I;ENSP00000443798:V4109I	ENSP00000353174:V4131I	V	+	1	0	RYR2	236014008	1.000000	0.71417	0.990000	0.47175	0.762000	0.43233	8.008000	0.88588	2.610000	0.88304	0.655000	0.94253	GTC		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	75	0	0	0	1	0	48	75					A	237947385	G	A	237947385	3	1	434	1	0	0	0	0	1	0	0	0	13769	1145	40	1	12731	1	RYR2	1	237947385	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	145418710	237947385	11303236	5	36959											
IFT172	26160	broad.mit.edu	37	chr2	27688692	27688692	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcaacagtagtcacacCttccatcaccatcacctcgg	7	15	3	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:27688692C>G	ENST00000260570.3	-	17	1853	c.1750G>C	c.(1750-1752)Ggt>Cgt	p.G584R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	584					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)					GTAGTCACACCTTCCATCACC	0.517																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1750-1752)Ggt>Cgt		intraflagellar transport 172 homolog (Chlamydomonas)							416	391	399					2																	27688692		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27688692C>G	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.1750G>C	2.37:g.27688692C>G	ENSP00000260570:p.Gly584Arg						p.G584R	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			17	1853	-	Acute lymphoblastic leukemia(172;0.155)		584					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1750G>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220720	0.79464	.	.	ENSG00000138002	ENST00000260570	T	0.69685	-0.42	5.48	5.48	0.80851	.	0.046737	0.85682	D	0.000000	D	0.84804	0.5553	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86199	0.1617	10	0.49607	T	0.09	-13.7582	17.8997	0.88900	0.0:1.0:0.0:0.0	.	584	Q9UG01	IF172_HUMAN	R	584	ENSP00000260570:G584R	ENSP00000260570:G584R	G	-	1	0	IFT172	27542196	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.136000	0.77285	2.589000	0.87451	0.655000	0.94253	GGT		0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		312	439	0	0	0	1	0	312	439					G	27688692	C	G	27688692	3	3	434	1	0	0	0	0	1	0	0	0	7557	681	24	4	3627	4	IFT172	2	27688692	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08		27688692	215510681	6	36960											
AAK1	22848	broad.mit.edu	37	chr2	69769714	69769714	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggcgggcaacagcttcacAggtatcacaaaatatctgga	10	10	3	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:69769714A>T	ENST00000409085.4	-	5	851	c.475T>A	c.(475-477)Tgt>Agt	p.C159S	AAK1_ENST00000406297.3_Missense_Mutation_p.C159S|AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000470281.1_5'UTR	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	159	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						ACAGCTTCACAGGTATCACAA	0.493																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(475-477)Tgt>Agt		AP2 associated kinase 1							120	127	125					2																	69769714		1976	4188	6164	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69769714A>T	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.475T>A	2.37:g.69769714A>T	ENSP00000386456:p.Cys159Ser					AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000406297.3_Missense_Mutation_p.C159S	p.C159S	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			5	851	-			159			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.475T>A	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797416	0.90538	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.19938	2.11;2.11;2.11	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	0.40171	0.1106	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.996;0.994	T	0.09357	-1.0678	10	0.45353	T	0.12	-8.8755	14.1374	0.65295	1.0:0.0:0.0:0.0	.	159;159;159	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	S	159	ENSP00000386342:C159S;ENSP00000386456:C159S;ENSP00000385181:C159S	ENSP00000385181:C159S	C	-	1	0	AAK1	69623218	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.139000	0.94554	2.205000	0.71048	0.482000	0.46254	TGT		0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		4	192	0	0	0	1	0	4	192					T	69769714	A	T	69769714	3	4	434	1	0	0	0	0	1	0	0	0	16	188	7	5	2482	5	AAK1	2	69769714	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	42081022	69769714	173429659	7	36961											
DYSF	8291	broad.mit.edu	37	chr2	71709086	71709086	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtcaaagaccatgagacGatggggaggaacaggtaagg	17	5	1	2	rs200957354		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:71709086G>A	ENST00000258104.3	+	3	499	c.222G>A	c.(220-222)acG>acA	p.T74T	DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000409366.1_Silent_p.T75T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000394120.2_Silent_p.T75T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	74	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGAGACGATGGGGAGGA	0.552																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(220-222)acG>acA		dysferlin		G	,,,,,,,,,,,,,	0,4406		0,0,2203	61	61	61		225,222,222,222,222,222,222,225,225,225,225,225,225,222	-8.4	0.3	2		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,	75/2082,74/2067,74/2088,74/2102,74/2112,74/2098,74/2119,75/2113,75/2103,75/2089,75/2099,75/2068,75/2120,74/2081	71709086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71709086G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.222G>A	2.37:g.71709086G>A						DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000409366.1_Silent_p.T75T|DYSF_ENST00000394120.2_Silent_p.T75T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T	p.T74T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			3	499	+			74			C2 1.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.222G>A	CCDS1918.1																																																																																				0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		22	24	0	0	0	1	0	22	24					A	71709086	G	A	71709086	2	1	434	1	0	0	0	0	0	0	0	1	4859	1045	37	1		1	DYSF	2	71709086	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	1939372	71709086	171490287	8	36962											
RNF103	7844	broad.mit.edu	37	chr2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcccagtgaattttgCccaccaagggacttctgtca	7	12	3	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(397-399)gGc>gAc		ring finger protein 103							105	102	103					2																	86839366		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86839366C>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.398G>A	2.37:g.86839366C>T	ENSP00000237455:p.Gly133Asp					AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	p.G133D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			3	1366	-			133					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.398G>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003290	0.54254	.	.	ENSG00000239305	ENST00000237455	T	0.44881	0.91	5.58	5.58	0.84498	.	0.048876	0.85682	D	0.000000	T	0.40979	0.1139	L	0.47716	1.5	0.52099	D	0.999943	P	0.37525	0.598	B	0.34722	0.188	T	0.36890	-0.9729	10	0.56958	D	0.05	-12.7616	19.5655	0.95391	0.0:1.0:0.0:0.0	.	133	O00237	RN103_HUMAN	D	133	ENSP00000237455:G133D	ENSP00000237455:G133D	G	-	2	0	RNF103	86692877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.639000	0.89480	0.591000	0.81541	GGC		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		4	205	0	0	0	1	0	4	205					T	86839366	C	T	86839366	3	4	434	1	0	0	0	0	1	0	0	0	13423	739	26	2	1667	2	RNF103	2	86839366	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	15130280	86839366	156360007	9	36963											
TTN	7273	broad.mit.edu	37	chr2	179650719	179650719	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagctacctttgcggcGgaaatgcgttccttatatcc	10	12	1	0	rs151025677	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:179650719G>A	ENST00000591111.1	-	14	2450	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	TTN_ENST00000589042.1_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000342175.6_Silent_p.S696S			Q8WZ42	TITIN_HUMAN	titin	33583					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.S696S(3)|p.S742S(2)		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)			CCTTTGCGGCGGAAATGCGTT	0.547																																						ENST00000589042.1																			5	Substitution - coding silent(5)	p.S696S(3)|p.S742S(2)	prostate(5)	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						c.(2224-2226)tcC>tcT		titin		A	,,,,	0,4406		0,0,2203	98	90	92		2088,2226,2226,2088,2088	-12.3	0	2	dbSNP_134	92	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	696/26927,742/33424,742/5605,696/27052,696/27119	179650719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650719G>A	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.2226C>T	2.37:g.179650719G>A						TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000591111.1_Silent_p.S742S|TTN_ENST00000342175.6_Silent_p.S696S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S	p.S742S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2450	-			742					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	ENST00000591111.1	37	c.2226C>T																																																																																					0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	152	0	0	0	1	0	20	152					A	179650719	G	A	179650719	2	1	434	1	0	0	0	0	0	0	0	1	16732	1103	39	1		1	TTN	2	179650719	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	92811353	179650719	63548654	10	36964											
ATIC	471	broad.mit.edu	37	chr2	216198162	216198162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacacccatctcagcgGcatatgcaagagcaagaggt	9	14	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:216198162G>A	ENST00000236959.9	+	9	1230	c.904G>A	c.(904-906)Gca>Aca	p.A302T	ATIC_ENST00000435675.1_Missense_Mutation_p.A301T|ATIC_ENST00000540518.1_Missense_Mutation_p.A243T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	302					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CATCTCAGCGGCATATGCAAG	0.403			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(901-903)Gca>Aca		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						90	86	87					2																	216198162		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216198162G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.904G>A	2.37:g.216198162G>A	ENSP00000236959:p.Ala302Thr					ATIC_ENST00000540518.1_Missense_Mutation_p.A243T|ATIC_ENST00000236959.9_Missense_Mutation_p.A302T	p.A301T			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	8	1292	+		Renal(323;0.229)	302					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.901G>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170618	0.78452	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675	D;D;D	0.85556	-2.0;-2.0;-2.0	5.84	5.84	0.93424	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	H	0.98559	4.265	0.80722	D	1	P;D	0.54964	0.951;0.969	P;P	0.60682	0.878;0.811	D	0.96762	0.9562	10	0.87932	D	0	-13.7888	19.7343	0.96195	0.0:0.0:1.0:0.0	.	301;302	E9PBU3;P31939	.;PUR9_HUMAN	T	302;243;301	ENSP00000236959:A302T;ENSP00000440523:A243T;ENSP00000415935:A301T	ENSP00000236959:A302T	A	+	1	0	ATIC	215906407	1.000000	0.71417	0.917000	0.36280	0.206000	0.24218	9.703000	0.98714	2.765000	0.95021	0.557000	0.71058	GCA		0.403	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		4	176	0	0	0	1	0	4	176					A	216198162	G	A	216198162	3	1	434	1	0	0	0	0	1	0	0	0	1105	1203	42	2	938	2	ATIC	2	216198162	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	36547443	216198162	27001211	11	36965											
JAGN1	84522	broad.mit.edu	37	chr3	9934907	9934907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagctctaccgccatgGcaaggcctaccgtttcctct	8	16	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:9934907G>A	ENST00000307768.4	+	2	567	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					TACCGCCATGGCAAGGCCTAC	0.527																																						ENST00000307768.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(397-399)gGc>gAc		jagunal homolog 1 (Drosophila)							248	154	186					3																	9934907		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934907G>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.398G>A	3.37:g.9934907G>A	ENSP00000306106:p.Gly133Asp						p.G133D	NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN			2	567	+	Medulloblastoma(99;0.227)		133						Missense_Mutation	SNP	ENST00000307768.4	37	c.398G>A	CCDS2588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924741|4.924741	0.92319|0.92319	.|.	.|.	ENSG00000171135|ENSG00000171135	ENST00000543379|ENST00000307768	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.203955	.|0.51477	.|D	.|0.000092	T|T	0.76723|0.76723	0.4027|0.4027	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|P	.|0.57057	.|0.812	T|T	0.77202|0.77202	-0.2674|-0.2674	6|9	0.28530|0.52906	T|T	0.3|0.07	-13.176|-13.176	19.4882|19.4882	0.95039|0.95039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|133	.|Q8N5M9	.|JAGN1_HUMAN	T|D	132|133	.|.	ENSP00000442889:A132T|ENSP00000306106:G133D	A|G	+|+	1|2	0|0	JAGN1|JAGN1	9909907|9909907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	9.758000|9.758000	0.98927|0.98927	2.709000|2.709000	0.92574|0.92574	0.491000|0.491000	0.48974|0.48974	GCA|GGC		0.527	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		4	261	0	0	0	1	0	4	261					A	9934907	G	A	9934907	3	1	434	1	0	0	0	0	1	0	0	0	7936	1203	42	2	404	2	JAGN1	3	9934907	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		9934907	188087523	12	36966											
LRRFIP2	9209	broad.mit.edu	37	chr3	37107434	37107434	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attataactaagccatgtttCtgcaggggggaaaaacccac	9	9	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:37107434C>A	ENST00000336686.4	-	23	1647		c.e23-1		LRRFIP2_ENST00000396428.2_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000421307.1_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2						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						AGCCATGTTTCTGCAGGGGGG	0.493																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(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						c.e24-1		leucine rich repeat (in FLII) interacting protein 2							69	70	69					3																	37107434		2203	4300	6503	SO:0001630	splice_region_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107434C>A	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.1567-1G>T	3.37:g.37107434C>A						LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000396428.2_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site|LRRFIP2_ENST00000336686.4_Splice_Site		NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			24	1989	-								A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Splice_Site	SNP	ENST00000336686.4	37		CCDS2664.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167997	0.78339	.	.	ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230;ENST00000440742	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRFIP2	37082438	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.304000	0.78882	2.941000	0.99782	0.655000	0.94253	.		0.493	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	Intron	84	81	1	0	2.00703e-41	1	2.15491e-41	84	81					A	37107434	C	A	37107434	5	1	434	1	0	0	0	0	0	0	1	0	9028	927	32	4	623	4	LRRFIP2	3	37107434	Splice_Site	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	27172527	37107434	160914996	13	36967											
KLHL6	89857	broad.mit.edu	37	chr3	183273417	183273417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatcacccatggtccaggCgcccctttgtcctgccatca	7	18	2	0	rs376100820		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:183273417C>T	ENST00000341319.3	-	1	60	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	9					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.A9T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGTCCAGGCGCCCCTTTGT	0.587																																						ENST00000341319.3																			1	Substitution - Missense(1)	p.A9T(1)	cervix(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(25-27)Gcc>Acc		kelch-like family member 6		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	69	76	74		25	-10.8	0	3		74	0,8600		0,0,4300	no	missense	KLHL6	NM_130446.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	9/622	183273417	1,13005	2203	4300	6503	SO:0001583	missense	89857							g.chr3:183273417C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.25G>A	3.37:g.183273417C>T	ENSP00000341342:p.Ala9Thr						p.A9T	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	60	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		9					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.25G>A	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125594	0.06795	2.27E-4	0.0	ENSG00000172578	ENST00000341319	T	0.73681	-0.77	5.54	-10.8	0.00216	.	.	.	.	.	T	0.43344	0.1243	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17992	-1.0351	9	0.21540	T	0.41	.	1.4112	0.02292	0.325:0.2718:0.0801:0.3231	.	9	Q8WZ60	KLHL6_HUMAN	T	9	ENSP00000341342:A9T	ENSP00000341342:A9T	A	-	1	0	KLHL6	184756111	0.000000	0.05858	0.005000	0.12908	0.183000	0.23260	-2.759000	0.00787	-1.823000	0.01210	-0.762000	0.03455	GCC		0.587	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		131	129	0	0	0	1	0	131	129					T	183273417	C	T	183273417	3	4	434	1	0	0	0	0	1	0	0	0	8393	768	27	1	1868	1	KLHL6	3	183273417	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	146165983	183273417	14749013	14	36968											
IL2	3558	broad.mit.edu	37	chr4	123372928	123372928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcagtgttgagatgatGctttgacaaaaggtaatcca	10	6	1	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:123372928G>A	ENST00000226730.4	-	4	725	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	147					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	TTGAGATGATGCTTTGACAAA	0.303			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(439-441)agC>agT		interleukin 2							88	83	85					4																	123372928		2202	4300	6502	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123372928G>A	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"Interleukins and interleukin receptors"	6001	protein-coding gene	gene with protein product	"T cell growth factor"	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.441C>T	4.37:g.123372928G>A							p.S147S	NM_000586.3	NP_000577.2	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	4	725	-			147					P01585	Silent	SNP	ENST00000226730.4	37	c.441C>T	CCDS3726.1																																																																																				0.303	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			17	61	0	0	0	1	0	17	61					A	123372928	G	A	123372928	2	1	434	1	0	0	0	0	0	0	0	1	7666	1310	46	2		2	IL2	4	123372928	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		123372928	67781348	15	36969											
INTU	27152	broad.mit.edu	37	chr4	128608864	128608864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agattgagaatgttcctcgtTtggatcatttttttaacttg	8	5	1	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:128608864T>G	ENST00000335251.6	+	8	1394	c.1291T>G	c.(1291-1293)Ttg>Gtg	p.L431V		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	431					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGTTCCTCGTTTGGATCATTT	0.443																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1291-1293)Ttg>Gtg		inturned planar cell polarity protein							188	181	183					4																	128608864		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128608864T>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1291T>G	4.37:g.128608864T>G	ENSP00000334003:p.Leu431Val						p.L431V	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			8	1394	+			431					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1291T>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174765	0.57692	.	.	ENSG00000164066	ENST00000335251	T	0.33654	1.4	5.32	0.278	0.15673	.	0.000000	0.64402	D	0.000002	T	0.47266	0.1436	L	0.58428	1.81	0.80722	D	1	D	0.57899	0.981	P	0.61533	0.89	T	0.38950	-0.9637	10	0.45353	T	0.12	-7.6904	10.7117	0.45988	0.0:0.4344:0.0:0.5656	.	431	Q9ULD6	PDZD6_HUMAN	V	431	ENSP00000334003:L431V	ENSP00000334003:L431V	L	+	1	2	INTU	128828314	0.722000	0.28017	0.932000	0.37286	0.878000	0.50629	0.183000	0.16919	0.157000	0.19338	0.477000	0.44152	TTG		0.443	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		10	310	0	0	0	1	0	10	310					G	128608864	T	G	128608864	3	3	434	1	0	0	0	0	1	0	0	0	7786	1838	64	5	1321	5	INTU	4	128608864	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	5235936	128608864	62545412	16	36970											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtggttacggtttgccGtctttcctgagggttctggc	14	9	3	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	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)	p.T1263M(2)		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						ACGGTTTGCCGTCTTTCCTGA	0.502										HNSCC(64;0.19)																												ENST00000504830.1																			2	Substitution - Missense(2)	p.T1263M(2)	urinary_tract(1)|large_intestine(1)	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						c.(3787-3789)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 12							199	198	198					5																	33576343		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576343G>A	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.3788C>T	5.37:g.33576343G>A	ENSP00000422554:p.Thr1263Met	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	p.T1263M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4123	-			1263			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3788C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	2.426	-0.331954	0.05314	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59638	0.26;0.25	5.42	1.0	0.19881	.	2.214480	0.01524	N	0.018491	T	0.36193	0.0958	N	0.14661	0.345	0.09310	N	1	B;B	0.33171	0.4;0.279	B;B	0.27380	0.079;0.022	T	0.28364	-1.0046	10	0.46703	T	0.11	.	1.0625	0.01604	0.4257:0.1432:0.2642:0.1669	.	1178;1263	P58397-3;P58397	.;ATS12_HUMAN	M	1263;1178	ENSP00000422554:T1263M;ENSP00000344847:T1178M	ENSP00000344847:T1178M	T	-	2	0	ADAMTS12	33612100	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.466000	0.22019	0.263000	0.21812	0.655000	0.94253	ACG		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		161	211	0	0	0	1	0	161	211					A	33576343	G	A	33576343	3	1	434	1	0	0	0	0	1	0	0	0	257	1145	40	1	1020	1	ADAMTS12	5	33576343	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		33576343	147338917	17	36971											
SEMA6A	57556	broad.mit.edu	37	chr5	115818156	115818156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctgggcttaggaactcGttcatcaggaactggtgtcc	11	10	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:115818156G>A	ENST00000343348.6	-	11	1865	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	360	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)		TTAGGAACTCGTTCATCAGGA	0.423																																						ENST00000343348.6																			0				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						c.(1078-1080)Cga>Tga		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							73	72	72					5																	115818156		1900	4118	6018	SO:0001587	stop_gained	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115818156G>A	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.1078C>T	5.37:g.115818156G>A	ENSP00000345512:p.Arg360*					CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	p.R360*	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	11	1865	-		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)	360			Sema.		Q9P2H9	Nonsense_Mutation	SNP	ENST00000343348.6	37	c.1078C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	37	6.057426	0.97241	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	.	.	.	5.81	4.94	0.65067	.	0.052156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.641	0.68726	0.0:0.0:0.736:0.264	.	.	.	.	X	360	.	ENSP00000257414:R360X	R	-	1	2	SEMA6A	115846055	0.993000	0.37304	0.980000	0.43619	0.948000	0.59901	4.327000	0.59247	1.451000	0.47736	0.585000	0.79938	CGA		0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		20	24	0	0	0	1	0	20	24					A	115818156	G	A	115818156	4	1	434	1	0	0	0	0	0	1	0	0	14039	1153	40	1	2050	1	SEMA6A	5	115818156	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	82241813	115818156	65097104	18	36972											
CD14	929	broad.mit.edu	37	chr5	140012294	140012294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcccactgtgagccgcCgcacgcggagagccttgacc	13	17	0	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140012294C>T	ENST00000302014.6	-	2	904	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CD14_ENST00000401743.2_Missense_Mutation_p.R92Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	92					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|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)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|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)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCGCCGCACGCGGAG	0.647																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(274-276)cGg>cAg		CD14 molecule							24	24	24					5																	140012294		2203	4299	6502	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012294C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.275G>A	5.37:g.140012294C>T	ENSP00000304236:p.Arg92Gln					CD14_ENST00000401743.2_Missense_Mutation_p.R92Q	p.R92Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	904	-			92					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.275G>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082948	0.36758	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	D;D;D	0.91464	-2.85;-2.85;-2.85	5.87	1.02	0.19986	.	0.261331	0.25294	N	0.031704	T	0.81987	0.4939	L	0.43152	1.355	0.09310	N	1	P	0.34815	0.47	B	0.23150	0.044	T	0.69851	-0.5033	10	0.37606	T	0.19	-12.4952	8.2783	0.31885	0.0:0.5812:0.0:0.4188	.	92	P08571	CD14_HUMAN	Q	92	ENSP00000304236:R92Q;ENSP00000385519:R92Q;ENSP00000426543:R92Q	ENSP00000304236:R92Q	R	-	2	0	CD14	139992478	0.003000	0.15002	0.123000	0.21794	0.116000	0.19942	0.210000	0.17455	0.115000	0.18071	0.655000	0.94253	CGG		0.647	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		18	71	0	0	0	1	0	18	71					T	140012294	C	T	140012294	3	4	434	1	0	0	0	0	1	0	0	0	2964	652	23	1	856	1	CD14	5	140012294	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	24194138	140012294	40902966	19	36973											
PCDHA10	56139	broad.mit.edu	37	chr5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttactcgcagcagaggcGgcagagggtgtgttctgggg	18	8	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	753	6 X 4 AA repeats of P-X-X-P.				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(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2257-2259)cGg>cAg									50	57	54					5																	140237891		1322	2289	3611	SO:0001583	missense	0							g.chr5:140237891G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2258G>A	5.37:g.140237891G>A	ENSP00000304234:p.Arg753Gln					PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.R753Q	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2258	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2258G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	5.800	0.331998	0.10956	.	.	ENSG00000250120	ENST00000307360	T	0.14022	2.54	3.79	0.935	0.19483	.	.	.	.	.	T	0.07369	0.0186	L	0.28776	0.89	0.09310	N	0.999999	B;B	0.31413	0.322;0.216	B;B	0.21708	0.036;0.024	T	0.38286	-0.9668	9	0.21014	T	0.42	.	4.4399	0.11568	0.3879:0.1603:0.4518:0.0	.	753;753	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	753	ENSP00000304234:R753Q	ENSP00000304234:R753Q	R	+	2	0	PCDHA10	140218075	0.000000	0.05858	0.761000	0.31378	0.599000	0.36880	0.435000	0.21510	0.059000	0.16252	0.462000	0.41574	CGG		0.672	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		22	29	0	0	0	1	0	22	29					A	140237891	G	A	140237891	3	1	434	1	0	0	0	0	1	0	0	0	11520	1116	39	1	2260	1	PCDHA10	5	140237891	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	225597	140237891	40677369	20	36974											
HTR4	3360	broad.mit.edu	37	chr5	147830775	147830775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgattccagggattctggGtcattgtgtatgggcagttt	13	6	2	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:147830775G>A	ENST00000521530.1	-	6	1142	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000354217.2_Silent_p.D379D	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					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)	GGGATTCTGGGTCATTGTGTA	0.473																																					GBM(120;370 1604 14007 17804 41573)	ENST00000354217.2																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1135-1137)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						437	370	393					5																	147830775		2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830775G>A	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	ENST00000521530.1:c.1137C>T	5.37:g.147830775G>A						HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.D379D|HTR4_ENST00000314512.6_3'UTR	p.D379D			Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1300	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000521530.1	37	c.1137C>T	CCDS34270.1																																																																																				0.473	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870		82	136	0	0	0	1	0	82	136					A	147830775	G	A	147830775	2	1	434	1	0	0	0	0	0	0	0	1	7449	1252	44	2		2	HTR4	5	147830775	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	7592884	147830775	33084485	21	36975											
CDHR2	54825	broad.mit.edu	37	chr5	175995743	175995743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgacctatgggatgagCggccccaatgcctacttctt	9	14	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:175995743C>T	ENST00000510636.1	+	4	463	c.189C>T	c.(187-189)agC>agT	p.S63S	CDHR2_ENST00000506348.1_Silent_p.S63S|CDHR2_ENST00000261944.5_Silent_p.S63S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	63	Cadherin 1. {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						ATGGGATGAGCGGCCCCAATG	0.612																																						ENST00000510636.1																			0				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						c.(187-189)agC>agT		cadherin-related family member 2							106	101	103					5																	175995743		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:175995743C>T	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.189C>T	5.37:g.175995743C>T						CDHR2_ENST00000261944.5_Silent_p.S63S|CDHR2_ENST00000506348.1_Silent_p.S63S	p.S63S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			4	463	+			63			Cadherin 1.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.189C>T	CCDS34297.1																																																																																				0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	142	0	0	0	1	0	4	142					T	175995743	C	T	175995743	2	4	434	1	0	0	0	0	0	0	0	1	3119	767	27	1		1	CDHR2	5	175995743	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	28164968	175995743	4919517	22	36976											
SLC34A1	6569	broad.mit.edu	37	chr5	176824890	176824890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcgctggggaaacgcaCggccaagtaccgctggtttg	15	11	0	0	rs148272921		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:176824890C>T	ENST00000324417.5	+	13	1614	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	508					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	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)			GGGAAACGCACGGCCAAGTAC	0.597																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1522-1524)aCg>aTg		solute carrier family 34 (type II sodium/phosphate contransporter), member 1		C	MET/THR	0,4406		0,0,2203	132	109	117		1523	4.3	0.7	5	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC34A1	NM_003052.4	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	508/640	176824890	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824890C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1523C>T	5.37:g.176824890C>T	ENSP00000321424:p.Thr508Met					SLC34A1_ENST00000513614.1_3'UTR	p.T508M	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1614	+	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)	508					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1523C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116300	0.56505	0.0	1.16E-4	ENSG00000131183	ENST00000324417	T	0.37752	1.18	5.22	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.82823	2.61	0.53005	D	0.999965	D	0.76494	0.999	P	0.60415	0.874	T	0.68614	-0.5362	10	0.87932	D	0	-24.0799	15.7172	0.77677	0.0:0.8628:0.1372:0.0	.	508	Q06495	NPT2A_HUMAN	M	508	ENSP00000321424:T508M	ENSP00000321424:T508M	T	+	2	0	SLC34A1	176757496	1.000000	0.71417	0.709000	0.30452	0.128000	0.20619	7.726000	0.84824	1.168000	0.42723	0.305000	0.20034	ACG		0.597	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		62	94	0	0	0	1	0	62	94					T	176824890	C	T	176824890	3	4	434	1	0	0	0	0	1	0	0	0	14567	536	19	1	1660	1	SLC34A1	5	176824890	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	829147	176824890	4090370	23	36977											
MAML1	9794	broad.mit.edu	37	chr5	179196082	179196082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggcaacagcaccttctcGcggaacaggtaaaaagaaaa	10	9	1	2	rs144664410	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:179196082G>A	ENST00000292599.3	+	3	2226	c.1963G>A	c.(1963-1965)Gcg>Acg	p.A655T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCTTCTCGCGGAACAGGT	0.512													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21243	0.0		0.0	False		,,,				2504	0.0					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1963-1965)Gcg>Acg		mastermind-like 1 (Drosophila)		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	63	59	60		1963	4.9	1	5	dbSNP_134	60	0,8600		0,0,4300	no	missense	MAML1	NM_014757.4	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	655/1017	179196082	2,13004	2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179196082G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1963G>A	5.37:g.179196082G>A	ENSP00000292599:p.Ala655Thr					MAML1_ENST00000503050.1_3'UTR	p.A655T	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	2226	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	655						Missense_Mutation	SNP	ENST00000292599.3	37	c.1963G>A	CCDS34315.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.77	3.694477	0.68386	4.54E-4	0.0	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.53640	0.61	4.89	4.89	0.63831	.	0.486257	0.19492	N	0.112949	T	0.42562	0.1208	M	0.61703	1.905	0.47065	D	0.999305	P;P	0.51791	0.948;0.643	B;B	0.37047	0.24;0.084	T	0.45789	-0.9237	10	0.13470	T	0.59	-0.01	17.6492	0.88158	0.0:0.0:1.0:0.0	.	692;655	Q59GH4;Q92585	.;MAML1_HUMAN	T	655;692	ENSP00000292599:A655T	ENSP00000292599:A655T	A	+	1	0	MAML1	179128688	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.191000	0.77763	2.257000	0.74773	0.561000	0.74099	GCG		0.512	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		21	114	0	0	0	1	0	21	114					A	179196082	G	A	179196082	3	1	434	1	0	0	0	0	1	0	0	0	9205	1087	38	1	1973	1	MAML1	5	179196082	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	2371192	179196082	1719178	24	36978											
IER3	8870	broad.mit.edu	37	chr6	30712191	30712191	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggagagggtcgaaggtgaaGatctcaggaccggagccccg	18	9	1	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:30712191G>A	ENST00000259874.5	-	1	140	c.105C>T	c.(103-105)atC>atT	p.I35I	XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_5'Flank|IER3_ENST00000376377.2_Silent_p.I35I|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000376389.3_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	35					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						CGAAGGTGAAGATCTCAGGAC	0.736																																						ENST00000376377.2																			0				NS(1)	1						c.(103-105)atC>atT		immediate early response 3							4	7	6					6																	30712191		1299	2425	3724	SO:0001819	synonymous_variant	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30712191G>A	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.105C>T	6.37:g.30712191G>A						IER3_ENST00000259874.5_Silent_p.I35I	p.I35I			P46695	IEX1_HUMAN			1	134	-			35					Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	37	c.105C>T	CCDS4689.1																																																																																				0.736	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			4	13	0	0	0	1	0	4	13					A	30712191	G	A	30712191	2	1	434	1	0	0	0	0	0	0	0	1	7506	932	33	2		2	IER3	6	30712191	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		30712191	140402876	25	36979											
TFAP2D	83741	broad.mit.edu	37	chr6	50740480	50740480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaagaacggcggagcggCggattctggccaaggacatg	15	10	2	1	rs376933913		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:50740480C>T	ENST00000008391.3	+	8	1490	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCGGAGCGGCGGATTCTGGC	0.498																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1261-1263)gCg>gTg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	64	61	62		1262	5.3	0	6		62	0,8600	1.2+/-3.3	0,0,4300	no	missense	TFAP2D	NM_172238.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	421/453	50740480	2,13004	2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740480C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1262C>T	6.37:g.50740480C>T	ENSP00000008391:p.Ala421Val						p.A421V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1490	+	Lung NSC(77;0.0334)		421						Missense_Mutation	SNP	ENST00000008391.3	37	c.1262C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355839	0.24598	4.54E-4	0.0	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.31	5.31	0.75309	.	0.423240	0.25511	N	0.030161	D	0.88243	0.6384	N	0.08118	0	0.09310	N	0.999999	B	0.17038	0.02	B	0.12156	0.007	T	0.76870	-0.2799	10	0.30078	T	0.28	-6.0871	18.9906	0.92789	0.0:1.0:0.0:0.0	.	421	Q7Z6R9	AP2D_HUMAN	V	421	ENSP00000008391:A421V	ENSP00000008391:A421V	A	+	2	0	TFAP2D	50848439	0.986000	0.35501	0.027000	0.17364	0.820000	0.46376	7.487000	0.81328	2.489000	0.83994	0.467000	0.42956	GCG		0.498	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		43	49	0	0	0	1	0	43	49					T	50740480	C	T	50740480	3	4	434	1	0	0	0	0	1	0	0	0	15787	768	27	1	1292	1	TFAP2D	6	50740480	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	20028289	50740480	120374587	26	36980											
GPR6	2830	broad.mit.edu	37	chr6	110300977	110300977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcagcgtggtgcgccCgctggcgcgcagccacgtgg	17	16	0	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:110300977C>T	ENST00000275169.3	+	1	680	c.662C>T	c.(661-663)cCg>cTg	p.P221L	GPR6_ENST00000414000.2_Missense_Mutation_p.P236L	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	221					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GTGGTGCGCCCGCTGGCGCGC	0.697																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(706-708)cCg>cTg		G protein-coupled receptor 6							11	11	11					6																	110300977		2187	4255	6442	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110300977C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.662C>T	6.37:g.110300977C>T	ENSP00000275169:p.Pro221Leu					GPR6_ENST00000275169.3_Missense_Mutation_p.P221L	p.P236L			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	946	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	221					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.707C>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525571	0.85600	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.39229	1.09;1.09	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72852	-0.4167	10	0.87932	D	0	.	18.0945	0.89485	0.0:1.0:0.0:0.0	.	236;221	B4DHS9;P46095	.;GPR6_HUMAN	L	221;236;221	ENSP00000406986:P236L;ENSP00000275169:P221L	ENSP00000275169:P221L	P	+	2	0	GPR6	110407670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.504000	0.84457	0.563000	0.77884	CCG		0.697	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			13	16	0	0	0	1	0	13	16					T	110300977	C	T	110300977	3	4	434	1	0	0	0	0	1	0	0	0	6701	652	23	1	664	1	GPR6	6	110300977	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	59560497	110300977	60814090	27	36981											
LAMA2	3908	broad.mit.edu	37	chr6	129649474	129649474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccaggtggccgcaccCctggaccaaccctgggcacc	10	19	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:129649474C>T	ENST00000421865.2	+	29	4277	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1410	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)		TGGCCGCACCCCTGGACCAAC	0.507																																						ENST00000421865.2																			0				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						c.(4228-4230)Cct>Tct		laminin, alpha 2							129	113	118					6																	129649474		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649474C>T	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.4228C>T	6.37:g.129649474C>T	ENSP00000400365:p.Pro1410Ser						p.P1410S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4277	+			1410			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4228C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540345	0.13250	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32272	1.46	5.15	0.826	0.18829	.	0.423926	0.24537	N	0.037678	T	0.07143	0.0181	N	0.25201	0.72	0.20703	N	0.999866	B;B	0.30146	0.011;0.27	B;B	0.32465	0.013;0.146	T	0.34925	-0.9809	10	0.27785	T	0.31	.	9.0632	0.36447	0.3855:0.3637:0.2508:0.0	.	1410;1410	A6NF00;P24043	.;LAMA2_HUMAN	S	1410	ENSP00000400365:P1410S	ENSP00000346769:P1410S	P	+	1	0	LAMA2	129691167	0.133000	0.22466	0.004000	0.12327	0.416000	0.31233	0.532000	0.23067	0.125000	0.18397	0.467000	0.42956	CCT		0.507	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			14	237	0	0	0	1	0	14	237					T	129649474	C	T	129649474	3	4	434	1	0	0	0	0	1	0	0	0	8606	623	22	2	4342	2	LAMA2	6	129649474	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	19348497	129649474	41465593	28	36982											
TIAM2	26230	broad.mit.edu	37	chr6	155451307	155451307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctccccctcaggtatccGcctttctgatgaatacatgg	7	15	3	2	rs146734733		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:155451307G>A	ENST00000461783.3	+	6	2223	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	317					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)		TCAGGTATCCGCCTTTCTGAT	0.572																																						ENST00000461783.3																			0				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						c.(949-951)cGc>cAc		T-cell lymphoma invasion and metastasis 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71	66	68		950	4.9	0.1	6	dbSNP_134	68	0,8600		0,0,4300	no	missense	TIAM2	NM_012454.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	317/1702	155451307	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451307G>A		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.950G>A	6.37:g.155451307G>A	ENSP00000437188:p.Arg317His					TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR	p.R317H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2223	+		Ovarian(120;0.196)	317					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.950G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803768	0.16467	2.27E-4	0.0	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05786	3.5;3.39;3.45;3.5;3.51;3.45	4.86	4.86	0.63082	.	0.550454	0.19835	N	0.104995	T	0.04770	0.0129	M	0.71581	2.175	0.41426	D	0.987836	D	0.53151	0.958	B	0.36989	0.238	T	0.43861	-0.9365	10	0.37606	T	0.19	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	317	Q8IVF5	TIAM2_HUMAN	H	317;563;317;317;317;317;317	ENSP00000437188:R317H;ENSP00000434901:R317H;ENSP00000407746:R317H;ENSP00000327315:R317H;ENSP00000353528:R317H;ENSP00000433348:R317H	ENSP00000327315:R317H	R	+	2	0	TIAM2	155492999	0.998000	0.40836	0.070000	0.20053	0.005000	0.04900	4.264000	0.58859	2.420000	0.82092	0.563000	0.77884	CGC		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		69	50	0	0	0	1	0	69	50					A	155451307	G	A	155451307	3	1	434	1	0	0	0	0	1	0	0	0	15888	1087	38	1	952	1	TIAM2	6	155451307	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	25801833	155451307	15663760	29	36983											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124942	31124942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaagctgcactgcacacGcaacttcatccacatgaacc	7	14	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:31124942G>A	ENST00000304166.4	+	9	843	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	185					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACTGCACACGCAACTTCATC	0.542																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(553-555)cGc>cAc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							189	148	162					7																	31124942		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124942G>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.554G>A	7.37:g.31124942G>A	ENSP00000306620:p.Arg185His					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H	p.R185H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			9	843	+			185					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.554G>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206555	0.95033	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.57273	1.22;0.41;1.22;1.22	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	H	0.97131	3.945	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;1.0;1.0;1.0	D	0.87960	0.2729	10	0.87932	D	0	.	17.3409	0.87296	0.0:0.0:1.0:0.0	.	185;185;185;164;185	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	H	185;164;185;185	ENSP00000306620:R185H;ENSP00000387335:R164H;ENSP00000379514:R185H;ENSP00000386395:R185H	ENSP00000306620:R185H	R	+	2	0	ADCYAP1R1	31091467	1.000000	0.71417	0.868000	0.34077	0.959000	0.62525	9.845000	0.99498	2.688000	0.91661	0.655000	0.94253	CGC		0.542	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		5	407	0	0	0	1	0	5	407					A	31124942	G	A	31124942	3	1	434	1	0	0	0	0	1	0	0	0	303	1087	38	1	584	1	ADCYAP1R1	7	31124942	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		31124942	128013721	30	36984											
VPS41	27072	broad.mit.edu	37	chr7	38902218	38902218	+	Frame_Shift_Del	DEL	A	A	-													cataatgtgtgcccaatgccAaaaactgtaagaagaacaaa							TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:38902218delA	ENST00000310301.4	-	4	227	c.173delT	c.(172-174)ttgfs	p.L58fs	VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	58					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCCAATGCCAAAAACTGTAA	0.308																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(172-174)tgfs		vacuolar protein sorting 41 homolog (S. cerevisiae)							74	75	75					7																	38902218		2203	4300	6503	SO:0001589	frameshift_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38902218delA	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.173delT	7.37:g.38902218delA	ENSP00000309457:p.Leu58fs					VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs	p.L58fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			4	227	-			58					E9PF36|Q86TP8|Q99851|Q99852	Frame_Shift_Del	DEL	ENST00000310301.4	37	c.173delT	CCDS5457.1																																																																																				0.308	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			8	325						8	325	---	---	---	---	-	38902218	A	-	38902218	7	5	434	1	0	1	0	1	0	0	0	0	17207	131	5	0	2495	0	VPS41	7	38902218	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08	7777276	38902218	120236445	31	36985											
PCLO	27445	broad.mit.edu	37	chr7	82474624	82474624	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctttttgctcactgaggggGaccctggttgcccagggctg	14	11	2	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:82474624G>C	ENST00000333891.9	-	13	14346	c.14009C>G	c.(14008-14010)tCc>tGc	p.S4670C	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4670C	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						CACTGAGGGGGACCCTGGTTG	0.502																																						ENST00000423517.2																			0				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						c.(14008-14010)tCc>tGc		piccolo presynaptic cytomatrix protein							55	57	56					7																	82474624		2012	4174	6186	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474624G>C	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.14009C>G	7.37:g.82474624G>C	ENSP00000334319:p.Ser4670Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.S4670C|PCLO_ENST00000426442.2_5'UTR	p.S4670C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14346	-			4558						Missense_Mutation	SNP	ENST00000333891.9	37	c.14009C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882870	0.51908	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.19938	2.11;2.12	5.53	5.53	0.82687	.	.	.	.	.	T	0.46444	0.1393	L	0.56769	1.78	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;0.999;0.997;0.993	T	0.34800	-0.9814	9	0.87932	D	0	.	19.827	0.96621	0.0:0.0:1.0:0.0	.	4670;4670;100;167	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	C	4670;4670;166	ENSP00000334319:S4670C;ENSP00000388393:S4670C	ENSP00000334319:S4670C	S	-	2	0	PCLO	82312560	1.000000	0.71417	0.966000	0.40874	0.891000	0.51852	9.110000	0.94302	2.759000	0.94783	0.561000	0.74099	TCC		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		32	72	0	0	0	1	0	32	72					C	82474624	G	C	82474624	3	2	434	1	0	0	0	0	1	0	0	0	11583	1174	41	4	1488	4	PCLO	7	82474624	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	43572406	82474624	76664039	32	36986											
GIGYF1	64599	broad.mit.edu	37	chr7	100284293	100284293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctggcggagcgccagcGgtcgccgtctcgccggggcc	19	15	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:100284293G>A	ENST00000275732.5	-	7	1882	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	225					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAGCGCCAGCGGTCGCCGTCT	0.687																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(673-675)Cgc>Tgc		GRB10 interacting GYF protein 1							28	35	32					7																	100284293		2196	4284	6480	SO:0001583	missense	64599							g.chr7:100284293G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.673C>T	7.37:g.100284293G>A	ENSP00000275732:p.Arg225Cys					GIGYF1_ENST00000471340.2_Intron	p.R225C	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1882	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		225					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.673C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	19.82	3.897779	0.72639	.	.	ENSG00000146830	ENST00000275732	D	0.84298	-1.83	4.96	4.96	0.65561	.	0.255256	0.33309	N	0.005048	D	0.87462	0.6183	L	0.57536	1.79	0.49915	D	0.999836	D	0.76494	0.999	P	0.56474	0.799	D	0.87617	0.2507	10	0.59425	D	0.04	-15.8751	10.7376	0.46135	0.0:0.0:0.8103:0.1897	.	225	O75420	PERQ1_HUMAN	C	225	ENSP00000275732:R225C	ENSP00000275732:R225C	R	-	1	0	GIGYF1	100122229	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.448000	0.35112	2.571000	0.86741	0.563000	0.77884	CGC		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		56	212	0	0	0	1	0	56	212					A	100284293	G	A	100284293	3	1	434	1	0	0	0	0	1	0	0	0	6377	1116	39	1	2506	1	GIGYF1	7	100284293	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	17809669	100284293	58854370	33	36987											
MCPH1	79648	broad.mit.edu	37	chr8	6302235	6302235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtttgaagagaagtatcGtttgtctcctaccttatctt	8	8	2	2	rs373336510		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:6302235G>A	ENST00000344683.5	+	8	1068	c.992G>A	c.(991-993)cGt>cAt	p.R331H	MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H|MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	331					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAGAAGTATCGTTTGTCTCCT	0.418																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(991-993)cGt>cAt		microcephalin 1							54	50	52					8																	6302235		1902	4127	6029	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302235G>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.992G>A	8.37:g.6302235G>A	ENSP00000342924:p.Arg331His					MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H|MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H	p.R331H	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1068	+		Hepatocellular(245;0.0663)	331					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.992G>A	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595722	0.46318	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10573	2.86;2.86;2.86	4.94	-2.08	0.07254	.	2.833960	0.00751	N	0.001077	T	0.17323	0.0416	L	0.50333	1.59	0.09310	N	1	D;D;D	0.59767	0.986;0.973;0.977	P;P;P	0.56788	0.493;0.806;0.493	T	0.23013	-1.0200	10	0.36615	T	0.2	0.2226	0.8385	0.01145	0.1783:0.2823:0.2511:0.2884	.	283;331;331	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	H	331;331;283	ENSP00000342924:R331H;ENSP00000430962:R331H;ENSP00000430768:R283H	ENSP00000342924:R331H	R	+	2	0	MCPH1	6289643	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.560000	0.05964	-0.072000	0.12864	0.655000	0.94253	CGT		0.418	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		42	23	0	0	0	1	0	42	23					A	6302235	G	A	6302235	3	1	434	1	0	0	0	0	1	0	0	0	9398	1145	40	1	1022	1	MCPH1	8	6302235	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		6302235	140061787	34	36988											
LZTS1	11178	broad.mit.edu	37	chr8	20110916	20110916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctggacatggagttccGgccggagtctgacagcgccc	15	13	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:20110916G>A	ENST00000381569.1	-	3	883	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|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)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGGAGTTCCGGCCGGAGTCT	0.672																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(526-528)Cgg>Tgg		leucine zipper, putative tumor suppressor 1							43	47	46					8																	20110916		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110916G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.526C>T	8.37:g.20110916G>A	ENSP00000370981:p.Arg176Trp					LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W	p.R176W			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	883	-			176					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.526C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145224	0.57044	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.39787	1.42;1.42;1.06	5.79	4.9	0.64082	.	0.050817	0.85682	D	0.000000	T	0.57373	0.2049	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.58578	-0.7612	10	0.56958	D	0.05	-61.1995	9.291	0.37786	0.0:0.1367:0.604:0.2593	.	176;176	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	176	ENSP00000370981:R176W;ENSP00000265801:R176W;ENSP00000429263:R176W	ENSP00000265801:R176W	R	-	1	2	LZTS1	20155196	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.341000	0.33907	1.403000	0.46800	0.561000	0.74099	CGG		0.672	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	67	0	0	0	1	0	4	67					A	20110916	G	A	20110916	3	1	434	1	0	0	0	0	1	0	0	0	9138	1115	39	1	1272	1	LZTS1	8	20110916	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13808681	20110916	126253106	35	36989											
NEFM	4741	broad.mit.edu	37	chr8	24771352	24771352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacccgtccgcctaccggCgggtaaccgagacccgctcg	12	18	0	1	rs376788931		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:24771352C>T	ENST00000221166.5	+	1	828	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W			P07197	NFM_HUMAN	neurofilament, medium polypeptide	16	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCCTACCGGCGGGTAACCGA	0.701																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(46-48)Cgg>Tgg		neurofilament, medium polypeptide							12	15	14					8																	24771352		2125	4200	6325	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771352C>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.46C>T	8.37:g.24771352C>T	ENSP00000221166:p.Arg16Trp					NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W	p.R16W			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	828	+		Prostate(55;0.157)	16			Head.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.46C>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433623	0.43224	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91686	-2.89;-2.89;-2.89	3.97	3.09	0.35607	Intermediate filament head, DNA-binding domain (1);	0.369401	0.19859	N	0.104468	D	0.94159	0.8126	M	0.67397	2.05	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.92906	0.6343	10	0.87932	D	0	.	6.9591	0.24587	0.2897:0.6256:0.0:0.0847	.	16;16	E7EMV2;P07197	.;NFM_HUMAN	W	16	ENSP00000221166:R16W;ENSP00000427872:R16W;ENSP00000410137:R16W	ENSP00000221166:R16W	R	+	1	2	NEFM	24827257	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	2.372000	0.44257	1.001000	0.39076	0.467000	0.42956	CGG		0.701	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		13	14	0	0	0	1	0	13	14					T	24771352	C	T	24771352	3	4	434	1	0	0	0	0	1	0	0	0	10316	759	27	1	48	1	NEFM	8	24771352	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4660436	24771352	121592670	36	36990											
KIF13B	23303	broad.mit.edu	37	chr8	28956707	28956707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgggggcaggagctaTtcctctggaaactgtggttt	17	7	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:28956707T>C	ENST00000524189.1	-	36	4305	c.4267A>G	c.(4267-4269)Ata>Gta	p.I1423V	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1423					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)		GCAGGAGCTATTCCTCTGGAA	0.428																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(4267-4269)Ata>Gta		kinesin family member 13B							148	151	150					8																	28956707		1845	4083	5928	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28956707T>C	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.4267A>G	8.37:g.28956707T>C	ENSP00000427900:p.Ile1423Val					KIF13B_ENST00000404075.3_5'UTR	p.I1423V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	36	4305	-		Ovarian(32;0.000536)	1423					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.4267A>G	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464057	0.26335	.	.	ENSG00000197892	ENST00000524189;ENST00000523130	T;T	0.79454	-0.86;-1.27	5.4	-8.17	0.01057	.	1.722310	0.02947	N	0.141214	T	0.50497	0.1619	N	0.02011	-0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	10	0.45353	T	0.12	.	10.3744	0.44073	0.0:0.5379:0.2219:0.2402	.	1423	F8VPJ2	.	V	1423;36	ENSP00000427900:I1423V;ENSP00000429106:I36V	ENSP00000429106:I36V	I	-	1	0	KIF13B	29012626	0.002000	0.14202	0.000000	0.03702	0.047000	0.14425	-0.241000	0.08940	-1.242000	0.02523	-0.408000	0.06270	ATA		0.428	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			137	80	0	0	0	1	0	137	80					C	28956707	T	C	28956707	3	2	434	1	0	0	0	0	1	0	0	0	8275	1493	52	3	1233	3	KIF13B	8	28956707	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	4185355	28956707	117407315	37	36991											
RFX3	5991	broad.mit.edu	37	chr9	3257179	3257179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgttgtcatcacactgGcacacccaggaagcctgctc	8	15	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:3257179G>A	ENST00000382004.3	-	15	1937	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	RFX3_ENST00000358730.2_Silent_p.C542C|RFX3_ENST00000302303.1_Silent_p.C542C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	542					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|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)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CATCACACTGGCACACCCAGG	0.483																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1624-1626)tgC>tgT		regulatory factor X, 3 (influences HLA class II expression)							118	101	107					9																	3257179		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3257179G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1626C>T	9.37:g.3257179G>A						RFX3_ENST00000302303.1_Silent_p.C542C|RFX3_ENST00000358730.2_Silent_p.C542C	p.C542C	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	15	1937	-			542					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.1626C>T	CCDS6449.1																																																																																				0.483	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		4	126	0	0	0	1	0	4	126					A	3257179	G	A	3257179	2	1	434	1	0	0	0	0	0	0	0	1	13264	1195	42	2		2	RFX3	9	3257179	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		3257179	137956252	38	36992											
C9orf93	203238	broad.mit.edu	37	chr9	15695278	15695278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagacatgtgaaaataacGtgaaagaattggaatcgatc	10	4	0	4	rs139248677		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:15695278G>A	ENST00000380701.3	+	11	1589	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	CCDC171_ENST00000297641.3_Missense_Mutation_p.V421M	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	421																	TGAAAATAACGTGAAAGAATT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20427	0.0		0.001	False		,,,				2504	0.0					ENST00000380701.3																			0											c.(1261-1263)Gtg>Atg		coiled-coil domain containing 171		G	MET/VAL	0,4406		0,0,2203	164	154	157		1261	5.6	1	9	dbSNP_134	157	7,8593	5.7+/-21.5	0,7,4293	yes	missense	C9orf93	NM_173550.2	21	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	421/1327	15695278	7,12999	2203	4300	6503	SO:0001583	missense	203238							g.chr9:15695278G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1261G>A	9.37:g.15695278G>A	ENSP00000370077:p.Val421Met					CCDC171_ENST00000297641.3_Missense_Mutation_p.V421M	p.V421M	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			11	1589	+			421					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1261G>A	CCDS6481.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.27	2.186166	0.38609	0.0	8.14E-4	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.14640	2.49;2.49	5.55	5.55	0.83447	.	0.182432	0.43747	D	0.000525	T	0.06188	0.0160	N	0.08118	0	0.80722	D	1	B;B;B	0.33494	0.414;0.414;0.414	B;B;B	0.21360	0.034;0.034;0.034	T	0.34254	-0.9836	10	0.45353	T	0.12	-5.6069	9.7484	0.40462	0.1599:0.0:0.8401:0.0	.	421;421;421	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	M	421	ENSP00000297641:V421M;ENSP00000370077:V421M	ENSP00000297641:V421M	V	+	1	0	C9orf93	15685278	1.000000	0.71417	0.990000	0.47175	0.860000	0.49131	3.306000	0.51881	2.610000	0.88304	0.591000	0.81541	GTG		0.383	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		92	136	0	0	0	1	0	92	136					A	15695278	G	A	15695278	3	1	434	1	0	0	0	0	1	0	0	0	2506	1145	40	1	1299	1	C9orf93	9	15695278	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	12438099	15695278	125518153	39	36993											
CD72	971	broad.mit.edu	37	chr9	35615999	35615999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttgctcagcttctgcTccaaggccctcctctgttgc	8	16	3	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:35615999T>C	ENST00000396757.1	-	6	793	c.629A>G	c.(628-630)gAg>gGg	p.E210G	CD72_ENST00000259633.4_Missense_Mutation_p.E210G|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	210					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)			CAGCTTCTGCTCCAAGGCCCT	0.582																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(628-630)gAg>gGg		CD72 molecule							217	184	196					9																	35615999		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35615999T>C		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.629A>G	9.37:g.35615999T>C	ENSP00000379980:p.Glu210Gly					CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.E210G	p.E210G			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	793	-			210						Missense_Mutation	SNP	ENST00000396757.1	37	c.629A>G	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256613	0.80246	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.57907	0.37;0.37	5.14	5.14	0.70334	C-type lectin-like (1);	0.314396	0.27068	N	0.021100	T	0.58963	0.2159	M	0.67953	2.075	0.28996	N	0.887777	D;D	0.61080	0.989;0.989	P;P	0.50490	0.642;0.642	T	0.60767	-0.7198	10	0.45353	T	0.12	-14.298	12.3279	0.55022	0.0:0.0:0.0:1.0	.	210;210	Q5TLG3;P21854	.;CD72_HUMAN	G	210	ENSP00000379980:E210G;ENSP00000259633:E210G	ENSP00000259633:E210G	E	-	2	0	CD72	35605999	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.378000	0.59568	1.949000	0.56562	0.402000	0.26972	GAG		0.582	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		120	137	0	0	0	1	0	120	137					C	35615999	T	C	35615999	3	2	434	1	0	0	0	0	1	0	0	0	3034	1551	54	3	466	3	CD72	9	35615999	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	19920721	35615999	105597432	40	36994											
TRPM3	80036	broad.mit.edu	37	chr9	73399070	73399070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggatgtccgatgcccGtccactcccatcacagacaa	9	16	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:73399070G>A	ENST00000377111.2	-	7	1342	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000377110.3_Missense_Mutation_p.R367W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	392					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.R239W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCCGATGCCCGTCCACTCCCA	0.532																																						ENST00000377110.2																			1	Substitution - Missense(1)	p.R239W(1)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1099-1101)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 3							116	100	105					9																	73399070		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73399070G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1099C>T	9.37:g.73399070G>A	ENSP00000366315:p.Arg367Trp					TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R367W	p.R367W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			7	1342	-			392					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1099C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.453302|4.453302	0.84209|0.84209	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.73469|.	3.53;3.53;0.19;0.18;3.53;3.53;3.53;3.53;0.19;0.18;0.2;3.53;-0.75;3.53|.	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84584|0.84584	0.5504|0.5504	M|M	0.92604|0.92604	3.325|3.325	0.54753|0.54753	D|D	0.999981|0.999981	D;D;D;D;D;D;D;D;D;P|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.624|.	D;D;D;D;D;D;D;D;D;B|.	0.91635|.	0.995;0.999;0.998;0.996;0.996;0.984;0.995;0.996;0.996;0.154|.	D|D	0.88429|0.88429	0.3034|0.3034	10|5	0.87932|.	D|.	0|.	-20.8719|-20.8719	14.6098|14.6098	0.68507|0.68507	0.0:0.0:0.7346:0.2654|0.0:0.0:0.7346:0.2654	.|.	392;214;367;367;367;369;239;214;367;214|.	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.|.	W|M	367;367;239;239;214;369;214;214;239;239;394;214;239;214|213	ENSP00000366315:R367W;ENSP00000366314:R367W;ENSP00000366310:R239W;ENSP00000354066:R239W;ENSP00000366309:R214W;ENSP00000350140:R369W;ENSP00000386127:R214W;ENSP00000379581:R214W;ENSP00000379587:R239W;ENSP00000350791:R239W;ENSP00000389542:R394W;ENSP00000366305:R214W;ENSP00000379579:R239W;ENSP00000355395:R214W|.	ENSP00000350140:R369W|.	R|T	-|-	1|2	2|0	TRPM3|TRPM3	72588890|72588890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.127000|3.127000	0.50484|0.50484	1.610000|1.610000	0.50200|0.50200	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.532	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		69	83	0	0	0	1	0	69	83					A	73399070	G	A	73399070	3	1	434	1	0	0	0	0	1	0	0	0	16584	1144	40	1	4144	1	TRPM3	9	73399070	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	37783071	73399070	67814361	41	36995											
TLE4	7091	broad.mit.edu	37	chr9	82337427	82337427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggggatggagaacagcaAtgtggaagttttgcatgtca	15	4	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:82337427A>G	ENST00000376552.2	+	18	3066	c.2048A>G	c.(2047-2049)aAt>aGt	p.N683S	TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376520.4_Missense_Mutation_p.N715S|TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376534.4_Missense_Mutation_p.N320S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	683					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						GAGAACAGCAATGTGGAAGTT	0.483																																						ENST00000376520.4																			0				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						c.(2143-2145)aAt>aGt		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							131	127	128					9																	82337427		2031	4225	6256	SO:0001583	missense	7091							g.chr9:82337427A>G	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.2048A>G	9.37:g.82337427A>G	ENSP00000365735:p.Asn683Ser					TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376552.2_Missense_Mutation_p.N683S|TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S|TLE4_ENST00000376534.4_Missense_Mutation_p.N320S	p.N715S			O60756	BCE1_HUMAN			19	2972	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2144A>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991536	0.74703	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	N	0.25647	0.755	0.80722	D	1	B;B;B;P	0.38280	0.368;0.11;0.222;0.625	B;B;B;B	0.33750	0.065;0.018;0.065;0.169	T	0.14090	-1.0485	10	0.42905	T	0.14	-31.4912	16.8222	0.85835	1.0:0.0:0.0:0.0	.	658;614;715;683	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	S	683;614;715;715;320;658	ENSP00000365735:N683S;ENSP00000365727:N614S;ENSP00000365703:N715S;ENSP00000365720:N715S;ENSP00000365717:N320S;ENSP00000265284:N658S	ENSP00000265284:N658S	N	+	2	0	TLE4	81527247	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAT		0.483	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		28	65	0	0	0	1	0	28	65					G	82337427	A	G	82337427	3	3	434	1	0	0	0	0	1	0	0	0	15938	101	4	3	2118	3	TLE4	9	82337427	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	8938357	82337427	58876004	42	36996											
LPPR1	54886	broad.mit.edu	37	chr9	104048420	104048420	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatatccatgtatttcataaAatcaacaagagaatccctga	5	8	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:104048420A>T	ENST00000374874.3	+	4	726	c.287A>T	c.(286-288)aAa>aTa	p.K96I	LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		96					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TATTTCATAAAATCAACAAGA	0.388																																						ENST00000374874.3																			0											c.(286-288)aAa>aTa									99	97	97					9																	104048420		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104048420A>T																												ENST00000374874.3:c.287A>T	9.37:g.104048420A>T	ENSP00000364008:p.Lys96Ile					LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I	p.K96I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			4	726	+			96					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.287A>T	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840647	0.91197	.	.	ENSG00000148123	ENST00000374874;ENST00000456287;ENST00000374871;ENST00000395056	T;T	0.34667	1.35;1.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.60455	1.87	0.58432	D	0.999999	P;D	0.54964	0.93;0.969	P;P	0.50860	0.573;0.652	T	0.39820	-0.9595	10	0.44086	T	0.13	-3.4247	15.5651	0.76284	1.0:0.0:0.0:0.0	.	80;96	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	96	ENSP00000364008:K96I;ENSP00000378496:K96I	ENSP00000364005:K96I	K	+	2	0	RP11-35N6.1	103088241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.710000	0.91388	2.258000	0.74832	0.533000	0.62120	AAA		0.388	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			52	149	0	0	0	1	0	52	149					T	104048420	A	T	104048420	3	4	434	1	0	0	0	0	1	0	0	0	8924	14	1	5	297	5	LPPR1	9	104048420	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	21710993	104048420	37165011	43	36997											
ZMYND19	116225	broad.mit.edu	37	chr9	140477531	140477531	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccccgttggcattataataCcgggtcacatttaggacagg	10	10	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:140477531C>G	ENST00000298585.2	-	5	670	c.444G>C	c.(442-444)cgG>cgC	p.R148R		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	148						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CATTATAATACCGGGTCACAT	0.478																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(442-444)cgG>cgC		zinc finger, MYND-type containing 19							278	254	262					9																	140477531		2203	4300	6503	SO:0001819	synonymous_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140477531C>G	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.444G>C	9.37:g.140477531C>G							p.R148R	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	5	670	-	all_cancers(76;0.106)		148					Q5T366	Silent	SNP	ENST00000298585.2	37	c.444G>C	CCDS7048.1																																																																																				0.478	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		202	298	0	0	0	1	0	202	298					G	140477531	C	G	140477531	2	3	434	1	0	0	0	0	0	0	0	1	17707	494	18	4		4	ZMYND19	9	140477531	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	36429111	140477531	735900	44	36998											
GPRIN2	9721	broad.mit.edu	37	chr10	47000104	47000104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgctcggtgtggccatccaGaagcacctggagatgcagtt	14	10	0	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr10:47000104G>C	ENST00000374317.1	+	3	1497	c.1224G>C	c.(1222-1224)caG>caC	p.Q408H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.Q408H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	408										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGGCCATCCAGAAGCACCTGG	0.672																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1222-1224)caG>caC		G protein regulated inducer of neurite outgrowth 2							122	98	106					10																	47000104		2203	4300	6503	SO:0001583	missense	9721							g.chr10:47000104G>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1224G>C	10.37:g.47000104G>C	ENSP00000363436:p.Gln408His					GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q408H	p.Q408H			O60269	GRIN2_HUMAN			1	2179	+			408					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.1224G>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363690	0.61513	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.47177	0.85;0.85	4.85	4.85	0.62838	.	0.000000	0.39909	N	0.001234	T	0.67116	0.2859	M	0.80982	2.52	0.52501	D	0.999953	D	0.89917	1.0	D	0.91635	0.999	T	0.70876	-0.4753	10	0.87932	D	0	-15.0938	9.4844	0.38919	0.0979:0.0:0.9021:0.0	.	408	O60269	GRIN2_HUMAN	H	408	ENSP00000363436:Q408H;ENSP00000363433:Q408H	ENSP00000363433:Q408H	Q	+	3	2	GPRIN2	46420110	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.460000	0.60108	2.415000	0.81967	0.313000	0.20887	CAG		0.672	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		4	39	0	0	0	1	0	4	39					C	47000104	G	C	47000104	3	2	434	1	0	0	0	0	1	0	0	0	6730	933	33	4	1226	4	GPRIN2	10	47000104	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		47000104	88534643	45	36999											
MUC5B	727897	broad.mit.edu	37	chr11	1248558	1248558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctggatcccaaataCgccaaccagacctgtggcct	10	14	0	1	rs201462302		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:1248558C>T	ENST00000529681.1	+	6	655	c.597C>T	c.(595-597)taC>taT	p.Y199Y	MUC5B_ENST00000447027.1_Silent_p.Y199Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	199	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		ATCCCAAATACGCCAACCAGA	0.637													t|||	1	0.000199681	0.0	0.0	5008	,	,		13051	0.0		0.001	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(595-597)taC>taT		mucin 5B, oligomeric mucus/gel-forming		C		3,4003		0,3,2000	34	38	37		597	-2.4	0.6	11		37	1,8315		0,1,4157	no	coding-synonymous	MUC5B	NM_002458.2		0,4,6157	TT,TC,CC		0.012,0.0749,0.0325		199/5763	1248558	4,12318	2003	4158	6161	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1248558C>T	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.597C>T	11.37:g.1248558C>T						MUC5B_ENST00000529681.1_Silent_p.Y199Y	p.Y199Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	6	655	+		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)	199			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.597C>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	19	0	0	0	1	0	9	19					T	1248558	C	T	1248558	2	4	434	1	0	0	0	0	0	0	0	1	9979	547	19	1		1	MUC5B	11	1248558	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08		1248558	133757958	46	37000											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159394	18159394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccgctgaccaggctgtaCgtgaccatcctcctcacagt	9	15	1	2	rs201290239		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:18159394C>T	ENST00000396275.2	+	3	1006	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y215Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAGGCTGTACGTGACCATCC	0.562																																						ENST00000396275.2																			1	Substitution - coding silent(1)	p.Y215Y(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(643-645)taC>taT		MAS-related GPR, member X3							114	107	110					11																	18159394		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159394C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.645C>T	11.37:g.18159394C>T							p.Y215Y	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1006	+			215					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.645C>T	CCDS7830.1																																																																																				0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		39	30	0	0	0	1	0	39	30					T	18159394	C	T	18159394	2	4	434	1	0	0	0	0	0	0	0	1	9768	547	19	1		1	MRGPRX3	11	18159394	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	16910836	18159394	116847122	47	37001											
SLC43A3	29015	broad.mit.edu	37	chr11	57182153	57182153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaggccattccaggggGcacacagcactccgaactga	12	13	0	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:57182153G>A	ENST00000395123.2	-	11	1299	c.995C>T	c.(994-996)gCc>gTc	p.A332V	SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V|SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	332					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						ATTCCAGGGGGCACACAGCAC	0.542																																						ENST00000395123.2																			0				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						c.(994-996)gCc>gTc		solute carrier family 43, member 3							214	210	211					11																	57182153		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182153G>A	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.995C>T	11.37:g.57182153G>A	ENSP00000378555:p.Ala332Val					SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V	p.A332V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1299	-			332					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.995C>T	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743189	0.89663	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.17	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.171594	0.51477	N	0.000086	T	0.63236	0.2494	M	0.81239	2.535	0.47308	D	0.999389	P;P;P	0.51933	0.949;0.73;0.73	P;P;P	0.53760	0.734;0.612;0.612	T	0.62642	-0.6811	10	0.24483	T	0.36	-23.8115	10.861	0.46827	0.09:0.0:0.91:0.0	.	345;332;332	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	V	332;332;332;332;345	ENSP00000378555:A332V;ENSP00000378556:A332V;ENSP00000337561:A332V;ENSP00000436254:A332V;ENSP00000434515:A345V	ENSP00000337561:A332V	A	-	2	0	SLC43A3	56938729	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.422000	0.90262	1.179000	0.42884	0.462000	0.41574	GCC		0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		5	284	0	0	0	1	0	5	284					A	57182153	G	A	57182153	3	1	434	1	0	0	0	0	1	0	0	0	14634	1203	42	2	496	2	SLC43A3	11	57182153	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	39022759	57182153	77824363	48	37002											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341194	130341194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgtgatgggaacctgggctCcaagaagagattcgacaagt	13	8	0	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:130341194C>G	ENST00000299164.2	+	7	1994	c.1994C>G	c.(1993-1995)tCc>tGc	p.S665C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	665	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AACCTGGGCTCCAAGAAGAGA	0.577																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1993-1995)tCc>tGc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							134	131	132					11																	130341194		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130341194C>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1994C>G	11.37:g.130341194C>G	ENSP00000299164:p.Ser665Cys						p.S665C	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	1994	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	665			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1994C>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910458	0.92107	.	.	ENSG00000166106	ENST00000299164	T	0.77229	-1.08	5.97	5.97	0.96955	.	.	.	.	.	D	0.93331	0.7874	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94961	0.8108	9	0.87932	D	0	.	20.4157	0.99026	0.0:1.0:0.0:0.0	.	665	Q8TE58	ATS15_HUMAN	C	665	ENSP00000299164:S665C	ENSP00000299164:S665C	S	+	2	0	ADAMTS15	129846404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.825000	0.97269	0.655000	0.94253	TCC		0.577	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		36	33	0	0	0	1	0	36	33					G	130341194	C	G	130341194	3	3	434	1	0	0	0	0	1	0	0	0	260	855	30	4	2020	4	ADAMTS15	11	130341194	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	73159041	130341194	4665322	49	37003											
KRT86	3892	broad.mit.edu	37	chr12	52695806	52695806	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccctaccgtggcatcTcctgctaccgcggcctcacc	8	22	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:52695806T>A	ENST00000423955.2	+	3	284	c.106T>A	c.(106-108)Tcc>Acc	p.S36T	KRT86_ENST00000544024.1_Missense_Mutation_p.S36T|KRT86_ENST00000293525.5_Missense_Mutation_p.S36T			O43790	KRT86_HUMAN	keratin 86	36	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGTGGCATCTCCTGCTACCG	0.726																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(106-108)Tcc>Acc		keratin 86							14	18	17					12																	52695806		2002	4119	6121	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52695806T>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.106T>A	12.37:g.52695806T>A	ENSP00000444533:p.Ser36Thr					KRT86_ENST00000423955.2_Missense_Mutation_p.S36T|KRT86_ENST00000544024.1_Missense_Mutation_p.S36T	p.S36T	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	158	+			36			Head.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.106T>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968339	0.53614	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.82526	-1.62;-1.62;-1.62	5.0	3.81	0.43845	.	0.000000	0.34314	U	0.004068	T	0.81044	0.4741	M	0.76574	2.34	0.25389	N	0.988542	B	0.15930	0.015	B	0.19391	0.025	T	0.71002	-0.4718	10	0.44086	T	0.13	.	9.6355	0.39804	0.0:0.0:0.3711:0.6289	.	36	O43790	KRT86_HUMAN	T	36	ENSP00000443169:S36T;ENSP00000444533:S36T;ENSP00000293525:S36T	ENSP00000293525:S36T	S	+	1	0	AC021066.1;KRT86	50982073	0.001000	0.12720	1.000000	0.80357	0.968000	0.65278	0.032000	0.13732	0.718000	0.32166	0.519000	0.50382	TCC		0.726	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		39	47	0	0	0	1	0	39	47					A	52695806	T	A	52695806	3	1	434	1	0	0	0	0	1	0	0	0	8500	1551	54	5	108	5	KRT86	12	52695806	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08		52695806	81156089	50	37004											
SILV	6490	broad.mit.edu	37	chr12	56351416	56351416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttccctccatccaagGcccgcaactgggacacgctc	9	17	0	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:56351416G>A	ENST00000548747.1	-	6	1333	c.671C>T	c.(670-672)gCc>gTc	p.A224V	PMEL_ENST00000548493.1_Missense_Mutation_p.A224V|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000449260.2_Missense_Mutation_p.A224V|PMEL_ENST00000539511.1_Missense_Mutation_p.A138V|PMEL_ENST00000536427.1_Missense_Mutation_p.A224V|PMEL_ENST00000550464.1_Missense_Mutation_p.A138V|PMEL_ENST00000360714.4_Missense_Mutation_p.A224V|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.A224V			P40967	PMEL_HUMAN	premelanosome protein	224					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						TCCATCCAAGGCCCGCAACTG	0.577																																						ENST00000548747.1																			0				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						c.(670-672)gCc>gTc		premelanosome protein							84	86	86					12																	56351416		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351416G>A	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.671C>T	12.37:g.56351416G>A	ENSP00000448828:p.Ala224Val					PMEL_ENST00000552882.1_Missense_Mutation_p.A224V|PMEL_ENST00000536427.1_Missense_Mutation_p.A224V|PMEL_ENST00000539511.1_Missense_Mutation_p.A138V|PMEL_ENST00000449260.2_Missense_Mutation_p.A224V|PMEL_ENST00000360714.4_Missense_Mutation_p.A224V|PMEL_ENST00000548493.1_Missense_Mutation_p.A224V|PMEL_ENST00000550464.1_Missense_Mutation_p.A138V|PMEL_ENST00000550447.1_Intron	p.A224V			P40967	PMEL_HUMAN			6	1333	-			224					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.671C>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477342	0.84640	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000547137;ENST00000546543	T;T;T;T;T;T;T;T;T;T	0.15952	3.07;3.07;3.1;3.07;3.07;3.07;2.71;3.1;2.38;3.05	5.6	4.65	0.58169	.	0.100657	0.43919	D	0.000512	T	0.30916	0.0780	L	0.45581	1.43	0.39186	D	0.962867	D;D;D	0.76494	0.98;0.999;0.999	P;D;D	0.71656	0.69;0.974;0.936	T	0.00829	-1.1549	10	0.35671	T	0.21	-9.5111	11.7002	0.51567	0.0:0.0:0.6888:0.3112	.	138;224;224	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	V	224;224;138;224;224;224;224;138;170;175	ENSP00000402758:A224V;ENSP00000449690:A224V;ENSP00000450036:A138V;ENSP00000448828:A224V;ENSP00000447374:A224V;ENSP00000353940:A224V;ENSP00000438695:A224V;ENSP00000445005:A138V;ENSP00000448849:A170V;ENSP00000446662:A175V	ENSP00000353940:A224V	A	-	2	0	PMEL	54637683	0.948000	0.32251	1.000000	0.80357	0.943000	0.58893	1.144000	0.31565	2.797000	0.96272	0.655000	0.94253	GCC		0.577	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		79	98	0	0	0	1	0	79	98					A	56351416	G	A	56351416	3	1	434	1	0	0	0	0	1	0	0	0	14322	1203	42	2	1338	2	SILV	12	56351416	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	3655610	56351416	77500479	51	37005											
RASSF9	9182	broad.mit.edu	37	chr12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcagcagaggtggtgcGtttagtcagcccacagacaa	12	10	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:86199652G>A	ENST00000361228.3	-	2	504	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Cgc>Tgc		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							120	119	119					12																	86199652		1938	4168	6106	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199652G>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.136C>T	12.37:g.86199652G>A	ENSP00000354884:p.Arg46Cys						p.R46C	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	504	-			46			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.136C>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900455	0.72754	.	.	ENSG00000198774	ENST00000361228	T	0.52983	0.64	4.82	4.82	0.62117	Ras-association (2);	0.069647	0.64402	D	0.000010	T	0.66287	0.2774	M	0.78916	2.43	0.54753	D	0.999989	D	0.69078	0.997	P	0.57283	0.817	T	0.72769	-0.4193	10	0.87932	D	0	-18.6986	18.2669	0.90055	0.0:0.0:1.0:0.0	.	46	O75901	RASF9_HUMAN	C	46	ENSP00000354884:R46C	ENSP00000354884:R46C	R	-	1	0	RASSF9	84723783	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	6.552000	0.73914	2.397000	0.81536	0.514000	0.50259	CGC		0.453	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			94	103	0	0	0	1	0	94	103					A	86199652	G	A	86199652	3	1	434	1	0	0	0	0	1	0	0	0	13093	1145	40	1	1175	1	RASSF9	12	86199652	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	29848236	86199652	47652243	52	37006											
RIMBP2	23504	broad.mit.edu	37	chr12	130963555	130963555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgttcagccgcctctcGcatatgctgtggggacagag	13	14	2	1	rs138967663		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:130963555G>A	ENST00000261655.4	-	3	167	c.4C>T	c.(4-6)Cga>Tga	p.R2*	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGCCTCTCGCATATGCTGT	0.617																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(4-6)Cga>Tga		RIMS binding protein 2		G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	34	34	34		4	4.2	1	12	dbSNP_134	34	0,8598		0,0,4299	no	stop-gained	RIMBP2	NM_015347.4		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		2/1053	130963555	1,13001	2202	4299	6501	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130963555G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.4C>T	12.37:g.130963555G>A	ENSP00000261655:p.Arg2*					RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	p.R2*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	3	167	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	2					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.4C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	37	6.493999	0.97612	2.27E-4	0.0	ENSG00000060709	ENST00000261655	.	.	.	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6109	15.3895	0.74731	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000261655:R2X	R	-	1	2	RIMBP2	129529508	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.441000	0.90313	1.909000	0.55274	0.491000	0.48974	CGA		0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		39	39	0	0	0	1	0	39	39					A	130963555	G	A	130963555	4	1	434	1	0	0	0	0	0	1	0	0	13363	1095	38	1	3222	1	RIMBP2	12	130963555	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	44763903	130963555	2888340	53	37007											
ATP12A	479	broad.mit.edu	37	chr13	25265131	25265131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgtaggcactgtcaccGgcatggttatcaacacgggt	11	13	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:25265131G>A	ENST00000381946.3	+	8	978	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	ATP12A_ENST00000218548.6_Missense_Mutation_p.G277S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	271					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CACTGTCACCGGCATGGTTAT	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(829-831)Ggc>Agc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						156	142	146					13																	25265131		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25265131G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.811G>A	13.37:g.25265131G>A	ENSP00000371372:p.Gly271Ser					ATP12A_ENST00000381946.3_Missense_Mutation_p.G271S	p.G277S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	8	1162	+		Lung SC(185;0.0225)|Breast(139;0.077)	271					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.829G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260814	0.80246	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91351	-2.83;-2.83	5.02	5.02	0.67125	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.145674	0.48286	N	0.000196	D	0.97161	0.9072	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.977	D	0.98380	1.0558	10	0.87932	D	0	.	15.8788	0.79185	0.0:0.0:1.0:0.0	.	277;271	P54707-2;P54707	.;AT12A_HUMAN	S	277;271	ENSP00000218548:G277S;ENSP00000371372:G271S	ENSP00000218548:G277S	G	+	1	0	ATP12A	24163131	1.000000	0.71417	0.977000	0.42913	0.398000	0.30690	9.380000	0.97202	2.600000	0.87896	0.462000	0.41574	GGC		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		4	252	0	0	0	1	0	4	252					A	25265131	G	A	25265131	3	1	434	1	0	0	0	0	1	0	0	0	1122	1116	39	1	859	1	ATP12A	13	25265131	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		25265131	89904747	54	37008											
C13orf34	79866	broad.mit.edu	37	chr13	73319293	73319293	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcactagagatgttttattCaatagatttgtctcctgtaa	6	6	3	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:73319293C>G	ENST00000390667.5	+	8	783	c.686C>G	c.(685-687)tCa>tGa	p.S229*	BORA_ENST00000377815.3_Nonsense_Mutation_p.S159*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	229	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATGTTTTATTCAATAGATTTG	0.443																																						ENST00000390667.5																			0											c.(685-687)tCa>tGa		bora, aurora kinase A activator							96	90	92					13																	73319293		1845	4068	5913	SO:0001587	stop_gained	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73319293C>G	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.686C>G	13.37:g.73319293C>G	ENSP00000375082:p.Ser229*					BORA_ENST00000377815.3_Nonsense_Mutation_p.S159*	p.S229*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			8	783	+			229			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Nonsense_Mutation	SNP	ENST00000390667.5	37	c.686C>G	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.771294|4.771294	0.90108|0.90108	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377814|ENST00000377815;ENST00000390667	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.059137	.|0.64402	.|D	.|0.000001	D|.	0.82342|.	0.5016|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81593|.	-0.0862|.	3|.	.|0.56958	.|D	.|0.05	-9.064|-9.064	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	206|159;229	.|.	.|ENSP00000367046:S159X	F|S	+|+	3|2	2|0	BORA|BORA	72217294|72217294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	5.288000|5.288000	0.65651|0.65651	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.443	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		4	227	0	0	0	1	0	4	227					G	73319293	C	G	73319293	4	3	434	1	0	0	0	0	0	1	0	0	1728	838	29	4	712	4	C13orf34	13	73319293	Nonsense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	48054162	73319293	41850585	55	37009											
C13orf34	79866	broad.mit.edu	37	chr13	73320715	73320715	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggataactaatccgtgtatCagaagtccttatatagatgg	10	6	1	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:73320715C>T	ENST00000390667.5	+	10	1045	c.948C>T	c.(946-948)atC>atT	p.I316I	BORA_ENST00000377815.3_Silent_p.I246I	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	316					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATCCGTGTATCAGAAGTCCTT	0.398																																						ENST00000390667.5																			0											c.(946-948)atC>atT		bora, aurora kinase A activator							82	77	79					13																	73320715		1817	4086	5903	SO:0001819	synonymous_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320715C>T	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"chromosome 13 open reading frame 34"	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.948C>T	13.37:g.73320715C>T						BORA_ENST00000377815.3_Silent_p.I246I	p.I316I	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			10	1045	+			316					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	ENST00000390667.5	37	c.948C>T	CCDS9446.1																																																																																				0.398	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		7	206	0	0	0	1	0	7	206					T	73320715	C	T	73320715	2	4	434	1	0	0	0	0	0	0	0	1	1728	816	29	2		2	C13orf34	13	73320715	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	1422	73320715	41849163	56	37010											
AHNAK2	113146	broad.mit.edu	37	chr14	105417287	105417287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccccgaacgacgGcatcttgaacttgggcattt	11	12	1	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr14:105417287G>A	ENST00000333244.5	-	7	4620	c.4501C>T	c.(4501-4503)Ccg>Tcg	p.P1501S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1501						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)			CCGAACGACGGCATCTTGAAC	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4501-4503)Ccg>Tcg		AHNAK nucleoprotein 2							193	134	153					14																	105417287		1949	4037	5986	SO:0001583	missense	113146					nucleus		g.chr14:105417287G>A	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.4501C>T	14.37:g.105417287G>A	ENSP00000353114:p.Pro1501Ser					AHNAK2_ENST00000557457.1_Intron	p.P1501S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4620	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1501					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4501C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.179405	0.38511	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	4.16	4.16	0.48862	.	.	.	.	.	T	0.25419	0.0618	M	0.92077	3.27	0.25761	N	0.984946	D	0.89917	1.0	D	0.91635	0.999	T	0.16335	-1.0406	9	0.41790	T	0.15	-29.3229	16.1243	0.81382	0.0:0.0:1.0:0.0	.	1501	Q8IVF2	AHNK2_HUMAN	S	1501	ENSP00000353114:P1501S	ENSP00000353114:P1501S	P	-	1	0	AHNAK2	104488332	0.037000	0.19845	0.981000	0.43875	0.010000	0.07245	0.082000	0.14847	1.867000	0.54127	0.485000	0.47835	CCG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	612	0	0	0	1	0	5	612					A	105417287	G	A	105417287	3	1	434	1	0	0	0	0	1	0	0	0	415	1203	42	2	12890	2	AHNAK2	14	105417287	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		105417287	1932253	57	37011											
TYRO3	7301	broad.mit.edu	37	chr15	41865285	41865285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcggaacttcatccaccGagacctggctgctcggaatt	9	14	2	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr15:41865285G>A	ENST00000263798.3	+	16	2185	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TTCATCCACCGAGACCTGGCT	0.582																																						ENST00000263798.3																			0				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						c.(1960-1962)cGa>cAa		TYRO3 protein tyrosine kinase							69	63	65					15																	41865285		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865285G>A	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.1961G>A	15.37:g.41865285G>A	ENSP00000263798:p.Arg654Gln					TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q	p.R654Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	16	2185	+		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)	654			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1961G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660423	0.96734	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.74947	-0.89	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.270575	0.19234	N	0.119338	D	0.89047	0.6604	H	0.98786	4.33	0.80722	D	1	D	0.61080	0.989	P	0.48425	0.577	D	0.93407	0.6765	10	0.87932	D	0	-1.6271	19.7024	0.96060	0.0:0.0:1.0:0.0	.	654	Q06418	TYRO3_HUMAN	Q	586;654	ENSP00000263798:R654Q	ENSP00000263798:R654Q	R	+	2	0	TYRO3	39652577	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.675000	0.91044	0.650000	0.86243	CGA		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			38	54	0	0	0	1	0	38	54					A	41865285	G	A	41865285	3	1	434	1	0	0	0	0	1	0	0	0	16811	1058	37	1	2023	1	TYRO3	15	41865285	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		41865285	60666107	58	37012											
SYT17	51760	broad.mit.edu	37	chr16	19195264	19195264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagaccggggtcaaacGcaagacccagaagcccgtgt	12	12	1	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:19195264G>A	ENST00000355377.2	+	5	1144	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SYT17_ENST00000562034.1_Missense_Mutation_p.R188H|SYT17_ENST00000568115.1_Missense_Mutation_p.R188H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGGGTCAAACGCAAGACCCAG	0.592																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(562-564)cGc>cAc		synaptotagmin XVII							124	114	117					16																	19195264		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195264G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.746G>A	16.37:g.19195264G>A	ENSP00000347538:p.Arg249His					SYT17_ENST00000355377.2_Missense_Mutation_p.R249H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H|SYT17_ENST00000568115.1_Missense_Mutation_p.R188H	p.R188H			Q9BSW7	SYT17_HUMAN			3	4361	+			249			C2 1.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.563G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	36	5.970206	0.97156	.	.	ENSG00000103528	ENST00000355377	T	0.70282	-0.47	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.75034	0.3795	L	0.57130	1.785	0.80722	D	1	B;B	0.29590	0.213;0.25	B;B	0.38712	0.135;0.28	T	0.74743	-0.3562	10	0.87932	D	0	.	19.7405	0.96228	0.0:0.0:1.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	249	ENSP00000347538:R249H	ENSP00000347538:R249H	R	+	2	0	SYT17	19102765	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.811000	0.99226	2.661000	0.90470	0.558000	0.71614	CGC		0.592	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		52	159	0	0	0	1	0	52	159					A	19195264	G	A	19195264	3	1	434	1	0	0	0	0	1	0	0	0	15470	1087	38	1	764	1	SYT17	16	19195264	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		19195264	71159489	59	37013											
ATXN2L	11273	broad.mit.edu	37	chr16	28842379	28842379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctggagaaacttctgttcCacctcctcctgcaggtaaag	8	12	2	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28842379C>A	ENST00000336783.4	+	10	1474	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	436					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTTCTGTTCCACCTCCTCCT	0.473																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1306-1308)cCa>cAa		ataxin 2-like							52	47	49					16																	28842379		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28842379C>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1307C>A	16.37:g.28842379C>A	ENSP00000338718:p.Pro436Gln					ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q	p.P436Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			10	1474	+			436					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1307C>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.605130	0.87157	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.48201	0.83;0.84;0.82;0.85;0.82	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.51618	0.1685	L	0.47716	1.5	0.41359	D	0.987418	P;D;P;P;P;P;P;D	0.53745	0.899;0.962;0.838;0.838;0.899;0.899;0.838;0.962	P;P;B;B;P;P;B;B	0.49276	0.466;0.605;0.276;0.202;0.466;0.466;0.276;0.367	T	0.46665	-0.9175	10	0.35671	T	0.21	-8.5066	18.2654	0.90051	0.0:1.0:0.0:0.0	.	436;436;436;436;436;436;436;436	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	Q	436	ENSP00000341459:P436Q;ENSP00000378917:P436Q;ENSP00000338718:P436Q;ENSP00000372133:P436Q;ENSP00000315650:P436Q	ENSP00000315650:P436Q	P	+	2	0	ATXN2L	28749880	1.000000	0.71417	0.966000	0.40874	0.972000	0.66771	5.470000	0.66756	2.688000	0.91661	0.563000	0.77884	CCA		0.473	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		3	36	1	0	1	1	1	3	36					A	28842379	C	A	28842379	3	1	434	1	0	0	0	0	1	0	0	0	1212	594	21	4	1345	4	ATXN2L	16	28842379	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	9647115	28842379	61512374	60	37014											
SH2B1	25970	broad.mit.edu	37	chr16	28883967	28883967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccccatccctttggagtCgggaggctccagtgatgttg	13	12	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28883967C>T	ENST00000322610.8	+	10	2277	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000337120.5_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	613	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						CCTTTGGAGTCGGGAGGCTCC	0.612																																						ENST00000337120.5																			0				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						c.(1837-1839)tCg>tTg		SH2B adaptor protein 1							116	102	107					16																	28883967		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883967C>T	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.1838C>T	16.37:g.28883967C>T	ENSP00000321221:p.Ser613Leu					SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000322610.8_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L	p.S613L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			7	5129	+			613			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1838C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	c	17.26	3.343554	0.61073	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.1	4.1	0.47936	SH2 motif (1);	0.160795	0.40908	N	0.001000	T	0.70535	0.3235	M	0.88181	2.935	0.53688	D	0.999974	D;P;P;P;P	0.60575	0.988;0.91;0.823;0.913;0.952	P;B;B;B;B	0.50314	0.637;0.231;0.306;0.23;0.127	T	0.78831	-0.2049	10	0.72032	D	0.01	-11.4514	13.8169	0.63297	0.1538:0.8462:0.0:0.0	.	277;303;613;613;613	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	L	613;303;613;277;613;613	ENSP00000321221:S613L;ENSP00000440354:S303L;ENSP00000352232:S613L;ENSP00000438784:S277L;ENSP00000378903:S613L;ENSP00000337163:S613L	ENSP00000321221:S613L	S	+	2	0	SH2B1	28791468	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	3.564000	0.53791	2.363000	0.80096	0.558000	0.71614	TCG		0.612	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		61	59	0	0	0	1	0	61	59					T	28883967	C	T	28883967	3	4	434	1	0	0	0	0	1	0	0	0	14227	893	31	1	1864	1	SH2B1	16	28883967	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	41588	28883967	61470786	61	37015											
FTO	79068	broad.mit.edu	37	chr16	53859939	53859939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcactccggtatctcGcatcctcattggtaatccag	7	14	4	0	rs139577103		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:53859939G>A	ENST00000471389.1	+	3	509	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	96	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGGTATCTCGCATCCTCATT	0.498																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(286-288)cGc>cAc		fat mass and obesity associated		G	HIS/ARG	0,4396		0,0,2198	97	86	90		287	5.5	1	16	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	missense	FTO	NM_001080432.2	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	96/506	53859939	2,12994	2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53859939G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.287G>A	16.37:g.53859939G>A	ENSP00000418823:p.Arg96His					FTO_ENST00000394647.3_Intron	p.R96H	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			3	509	+			96			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.287G>A	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373196	0.95923	0.0	2.33E-4	ENSG00000140718	ENST00000471389	D	0.85955	-2.05	5.46	5.46	0.80206	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93263	0.6645	10	0.87932	D	0	-12.4496	19.3039	0.94153	0.0:0.0:1.0:0.0	.	96	Q9C0B1	FTO_HUMAN	H	96	ENSP00000418823:R96H	ENSP00000418823:R96H	R	+	2	0	FTO	52417440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.782000	0.91809	2.562000	0.86427	0.650000	0.86243	CGC		0.498	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		4	148	0	0	0	1	0	4	148					A	53859939	G	A	53859939	3	1	434	1	0	0	0	0	1	0	0	0	6086	1087	38	1	297	1	FTO	16	53859939	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	24975972	53859939	36494814	62	37016											
SPG7	6687	broad.mit.edu	37	chr16	89592756	89592756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggctagccttgatgtaccGaatgcaggttgcaaatattg	12	8	0	1	rs147673636		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:89592756G>A	ENST00000268704.2	+	5	653	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	213					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)		TTGATGTACCGAATGCAGGTT	0.532																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(637-639)cGa>cAa		spastic paraplegia 7 (pure and complicated autosomal recessive)		G	GLN/ARG,GLN/ARG	3,4393	6.2+/-15.9	0,3,2195	129	119	122		638,638	4.4	1	16	dbSNP_134	122	0,8600		0,0,4300	no	missense,missense	SPG7	NM_003119.2,NM_199367.1	43,43	0,3,6495	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging,probably-damaging	213/796,213/490	89592756	3,12993	2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89592756G>A	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.638G>A	16.37:g.89592756G>A	ENSP00000268704:p.Arg213Gln					SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q	p.R213Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	5	653	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	213					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.638G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860946	0.71949	6.82E-4	0.0	ENSG00000197912	ENST00000268704;ENST00000341316;ENST00000312632	T;T	0.75704	-0.96;-0.96	5.35	4.39	0.52855	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.052309	0.64402	D	0.000001	T	0.72969	0.3527	L	0.29908	0.895	0.42855	D	0.994094	P;D	0.67145	0.911;0.996	P;P	0.57620	0.545;0.824	T	0.70941	-0.4735	10	0.30854	T	0.27	-1.0178	11.9172	0.52771	0.0:0.1406:0.7301:0.1293	.	213;213	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	Q	213;213;190	ENSP00000268704:R213Q;ENSP00000341157:R213Q	ENSP00000268704:R213Q	R	+	2	0	SPG7	88120257	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	4.387000	0.59626	1.268000	0.44264	0.456000	0.33151	CGA		0.532	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		4	244	0	0	0	1	0	4	244					A	89592756	G	A	89592756	3	1	434	1	0	0	0	0	1	0	0	0	15043	1058	37	1	656	1	SPG7	16	89592756	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	35732817	89592756	761997	63	37017											
EIF5A	1984	broad.mit.edu	37	chr17	7214424	7214424	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatggatgtccccaacatcAaaaggaatgacttccaggta	8	9	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:7214424A>T	ENST00000336458.8	+	3	654	c.253A>T	c.(253-255)Aaa>Taa	p.K85*	EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	85	DOHH-binding.			K -> R (in Ref. 3; AAD14095). {ECO:0000305}.	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						CCCCAACATCAAAAGGAATGA	0.468																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(253-255)Aaa>Taa		eukaryotic translation initiation factor 5A							88	76	80					17																	7214424		2203	4300	6503	SO:0001587	stop_gained	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214424A>T		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.253A>T	17.37:g.7214424A>T	ENSP00000336776:p.Lys85*					EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85*	p.K85*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			3	654	+			85	K -> R (in Ref. 3; AAD14095).		DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Nonsense_Mutation	SNP	ENST00000336458.8	37	c.253A>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	A	37	6.078387	0.97262	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1824	13.1271	0.59363	1.0:0.0:0.0:0.0	.	.	.	.	X	115;85;85;85	.	ENSP00000336702:K115X	K	+	1	0	EIF5A	7155148	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.648000	0.74359	2.015000	0.59207	0.459000	0.35465	AAA		0.468	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		4	222	0	0	0	1	0	4	222					T	7214424	A	T	7214424	4	4	434	1	0	0	0	0	0	1	0	0	5041	131	5	5	353	5	EIF5A	17	7214424	Nonsense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08		7214424	73980786	64	37018											
SREBF1	6720	broad.mit.edu	37	chr17	17718610	17718610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctaagagatgttccCggaatagctgagtcacctgg	11	11	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:17718610C>T	ENST00000261646.5	-	13	2601	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	SREBF1_ENST00000355815.4_Missense_Mutation_p.R836Q|SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	806					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|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)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGATGTTCCCGGAATAGCTG	0.617																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(2506-2508)cGg>cAg		sterol regulatory element binding transcription factor 1							100	99	100					17																	17718610		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17718610C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2417G>A	17.37:g.17718610C>T	ENSP00000261646:p.Arg806Gln					SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000261646.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q	p.R836Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			14	2676	-			806					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2507G>A	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962767	0.74016	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.69	5.69	0.88448	.	0.059066	0.64402	D	0.000003	T	0.44498	0.1296	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.68483	0.836;0.921;0.958	T	0.18085	-1.0348	10	0.30078	T	0.28	-8.4593	18.5716	0.91137	0.0:1.0:0.0:0.0	.	806;836;425	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	Q	806;836;806;552;425;643;732;131	ENSP00000345822:R806Q;ENSP00000348069:R836Q;ENSP00000261646:R806Q;ENSP00000379106:R552Q	ENSP00000261646:R806Q	R	-	2	0	SREBF1	17659335	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	5.728000	0.68531	2.678000	0.91216	0.556000	0.70494	CGG		0.617	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		56	75	0	0	0	1	0	56	75					T	17718610	C	T	17718610	3	4	434	1	0	0	0	0	1	0	0	0	15140	652	23	1	1054	1	SREBF1	17	17718610	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	10504186	17718610	63476600	65	37019											
AMAC1	146861	broad.mit.edu	37	chr17	33520509	33520509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgggccttggtgaccGcatagcccacacatgtgaag	14	11	0	2	rs550720367	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:33520509G>A	ENST00000297307.5	-	1	903	c.818C>T	c.(817-819)gCg>gTg	p.A273V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	273	EamA 2.					integral component of membrane (GO:0016021)											CTTGGTGACCGCATAGCCCAC	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		19324	0.002		0.0	False		,,,				2504	0.0					ENST00000297307.5																			0											c.(817-819)gCg>gTg		solute carrier family 35, member G3							150	137	141					17																	33520509		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33520509G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.818C>T	17.37:g.33520509G>A	ENSP00000297307:p.Ala273Val						p.A273V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	903	-			273			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.818C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521075	0.27211	.	.	ENSG00000164729	ENST00000297307	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.62245	0.2412	L	0.34521	1.04	0.46416	D	0.999039	B	0.18863	0.031	B	0.14578	0.011	T	0.51872	-0.8650	9	0.56958	D	0.05	-6.6496	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	273	Q8N808	S35G3_HUMAN	V	273	ENSP00000297307:A273V	ENSP00000297307:A273V	A	-	2	0	SLC35G3	30544622	1.000000	0.71417	0.143000	0.22291	0.144000	0.21451	2.821000	0.48065	0.064000	0.16427	0.064000	0.15345	GCG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	267	0	0	0	1	0	5	267					A	33520509	G	A	33520509	3	1	434	1	0	0	0	0	1	0	0	0	559	1087	38	1	202	1	AMAC1	17	33520509	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	15801899	33520509	47674701	66	37020											
KRT25	147183	broad.mit.edu	37	chr17	38907516	38907516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaactgtgaggtccaccccGggggctgcgttcatctccac	12	14	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:38907516G>A	ENST00000312150.4	-	4	792	c.732C>T	c.(730-732)ccC>ccT	p.P244P		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GGTCCACCCCGGGGGCTGCGT	0.577																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(730-732)ccC>ccT		keratin 25							88	79	82					17																	38907516		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907516G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.732C>T	17.37:g.38907516G>A							p.P244P	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			4	792	-		Breast(137;0.00526)	244			Linker 12.|Rod.			Silent	SNP	ENST00000312150.4	37	c.732C>T	CCDS11373.1																																																																																				0.577	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		49	79	0	0	0	1	0	49	79					A	38907516	G	A	38907516	2	1	434	1	0	0	0	0	0	0	0	1	8462	1103	39	1		1	KRT25	17	38907516	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	5387007	38907516	42287694	67	37021											
GH2	2689	broad.mit.edu	37	chr17	61957710	61957710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgccctccacagagcGgcactgcacgatgcgcagga	12	15	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:61957710G>A	ENST00000423893.2	-	5	686	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000456543.2_Silent_p.A207A|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	209					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCACAGAGCGGCACTGCACG	0.607																																						ENST00000423893.2																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(625-627)Cgc>Tgc		growth hormone 2							99	84	89					17																	61957710		2202	4279	6481	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957710G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.625C>T	17.37:g.61957710G>A	ENSP00000409294:p.Arg209Cys					GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000456543.2_Silent_p.A207A	p.R209C			P01242	SOM2_HUMAN			5	686	-			209					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.625C>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	13.05	2.122567	0.37436	.	.	ENSG00000136487	ENST00000423893;ENST00000449787	D;D	0.93076	-3.16;-3.16	2.74	2.74	0.32292	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	D	0.96153	0.8746	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.97110	1.0;0.85	D	0.96270	0.9198	8	0.87932	D	0	.	12.4782	0.55827	0.0:0.0:1.0:0.0	.	209;194	P01242;O14643	SOM2_HUMAN;.	C	209;194	ENSP00000409294:R209C;ENSP00000410618:R194C	ENSP00000409294:R209C	R	-	1	0	GH2	59311442	1.000000	0.71417	0.998000	0.56505	0.093000	0.18481	4.598000	0.61069	1.531000	0.49152	0.306000	0.20318	CGC		0.607	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		24	58	0	0	0	1	0	24	58					A	61957710	G	A	61957710	3	1	434	1	0	0	0	0	1	0	0	0	6368	1116	39	1	120	1	GH2	17	61957710	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	23050194	61957710	19237500	68	37022											
KIAA0195	9772	broad.mit.edu	37	chr17	73482037	73482039	+	In_Frame_Del	DEL	TGC	TGC	-													ctcactcatgctactggccgTgctgctgctgctgggctgct							TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73482037_73482039delTGC	ENST00000314256.7	+	4	624_626	c.230_232delTGC	c.(229-234)gtgctg>gtg	p.L81del	KIAA0195_ENST00000375248.5_In_Frame_Del_p.L91del|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	81						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)			CTACTGGCCGTGCTGCTGCTGCT	0.675																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(229-234)gtg>g		KIAA0195																																				SO:0001651	inframe_deletion	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73482037_73482039delTGC		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.230_232delTGC	17.37:g.73482046_73482048delTGC	ENSP00000313885:p.Leu81del					KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del	p.VL77del	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	624_626	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		77					O75536|Q86XF1	In_Frame_Del	DEL	ENST00000314256.7	37	c.230_232delTGC	CCDS32732.1																																																																																				0.675	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		7	282						7	282	---	---	---	---	-	73482039	TGC	-	73482037	7	5	434	1	0	1	0	1	0	0	0	0	8160	1696	59	0	240	0	KIAA0195	17	73482037	In_Frame_Del	DEL	TGC	TCGA-S9-A6WM-01A-12D-A33T-08	11524327	73482037	7713173	69	37023											
SAP30BP	29115	broad.mit.edu	37	chr17	73702109	73702109	+	Frame_Shift_Del	DEL	A	A	-													ttgagtttgtgacgggcaccAaaaaaggcaccacgaccaac							TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73702109delA	ENST00000584667.1	+	10	939	c.682delA	c.(682-684)aaafs	p.K229fs	SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACGGGCACCAAAAAAGGcac	0.572																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(682-684)aafs		SAP30 binding protein							118	85	96					17																	73702109		2203	4300	6503	SO:0001589	frameshift_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702109delA	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.682delA	17.37:g.73702109delA	ENSP00000462116:p.Lys229fs					SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	p.K229fs	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	939	+	all_cancers(13;6.42e-08)		229			Thr-rich.			Frame_Shift_Del	DEL	ENST00000584667.1	37	c.682delA	CCDS11726.1																																																																																				0.572	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		7	545						7	545	---	---	---	---	-	73702109	A	-	73702109	7	5	434	1	0	1	0	1	0	0	0	0	13834	131	5	0	720	0	SAP30BP	17	73702109	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08	220072	73702109	7493101	70	37024											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74622800	74622800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgggtcagggagaagGcggtaaagccgtagaaggat	18	5	1	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:74622800G>A	ENST00000156626.7	-	5	1443	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	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	415					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						CAGGGAGAAGGCGGTAAAGCC	0.537																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1243-1245)gCc>gTc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							267	281	276					17																	74622800		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622800G>A	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.1244C>T	17.37:g.74622800G>A	ENSP00000156626:p.Ala415Val						p.A415V	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			5	1443	-			415					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1244C>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586332	0.28268	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.30981	1.51;1.51	4.84	3.84	0.44239	.	0.065306	0.64402	D	0.000013	T	0.47469	0.1447	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.34354	-0.9832	10	0.35671	T	0.21	-26.6122	12.398	0.55397	0.0839:0.0:0.9161:0.0	.	415	Q9NSC7	SIA7A_HUMAN	V	415	ENSP00000156626:A415V;ENSP00000351991:A415V	ENSP00000156626:A415V	A	-	2	0	ST6GALNAC1	72134395	1.000000	0.71417	0.985000	0.45067	0.341000	0.28922	5.160000	0.64929	2.410000	0.81850	0.436000	0.28706	GCC		0.537	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		268	334	0	0	0	1	0	268	334					A	74622800	G	A	74622800	3	1	434	1	0	0	0	0	1	0	0	0	15222	1203	42	2	578	2	ST6GALNAC1	17	74622800	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	920691	74622800	6572410	71	37025											
MYOM1	8736	broad.mit.edu	37	chr18	3168873	3168873	+	Frame_Shift_Del	DEL	A	A	-													atttcaggagtgatgacaacAcgacagcctagactcattgt							TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:3168873delA	ENST00000356443.4	-	9	1614	c.1281delT	c.(1279-1281)cgtfs	p.R427fs	MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000400569.3_Frame_Shift_Del_p.R427fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	427	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATGACAACACGACAGCCTA	0.428																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1279-1281)cgfs		myomesin 1							133	122	126					18																	3168873		1905	4124	6029	SO:0001589	frameshift_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3168873delA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1281delT	18.37:g.3168873delA	ENSP00000348821:p.Arg427fs					MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000356443.4_Frame_Shift_Del_p.R427fs	p.R427fs			P52179	MYOM1_HUMAN			9	1614	-			427			Ig-like C2-type 2.		Q14BD6|Q6H969|Q6ZUU0	Frame_Shift_Del	DEL	ENST00000356443.4	37	c.1281delT	CCDS45824.1																																																																																				0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		34	53						34	53	---	---	---	---	-	3168873	A	-	3168873	7	5	434	1	0	1	0	1	0	0	0	0	10091	146	6	0	3896	0	MYOM1	18	3168873	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08		3168873	74908375	72	37026											
DSC3	1825	broad.mit.edu	37	chr18	28576872	28576872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgatgcccagcccccCggcaggattccaaggtctgg	12	13	1	2	rs138126171		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:28576872C>T	ENST00000360428.4	-	15	2458	c.2378G>A	c.(2377-2379)cGg>cAg	p.R793Q	DSC3_ENST00000434452.1_Missense_Mutation_p.R793Q	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	793					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCCAGCCCCCCGGCAGGATTC	0.507																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2377-2379)cGg>cAg		desmocollin 3		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95	80	86		2378,2378	-1.8	0	18	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense	DSC3	NM_001941.3,NM_024423.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	793/897,793/840	28576872	1,13005	2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576872C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2378G>A	18.37:g.28576872C>T	ENSP00000353608:p.Arg793Gln					DSC3_ENST00000360428.4_Missense_Mutation_p.R793Q	p.R793Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2532	-			793					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2378G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937613	0.18206	2.27E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	D;T	0.83992	-1.79;0.47	4.54	-1.77	0.07982	Cadherin, cytoplasmic domain (1);	0.569513	0.13165	N	0.408732	T	0.73659	0.3615	L	0.38175	1.15	0.09310	N	0.999992	B;B	0.14805	0.006;0.011	B;B	0.16289	0.015;0.013	T	0.60100	-0.7329	10	0.49607	T	0.09	.	12.2745	0.54726	0.0:0.4756:0.0:0.5244	.	793;793	Q14574;Q14574-2	DSC3_HUMAN;.	Q	793	ENSP00000353608:R793Q;ENSP00000392068:R793Q	ENSP00000353608:R793Q	R	-	2	0	DSC3	26830870	0.001000	0.12720	0.008000	0.14137	0.734000	0.41952	-0.409000	0.07160	-0.502000	0.06596	-0.137000	0.14449	CGG		0.507	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		37	59	0	0	0	1	0	37	59					T	28576872	C	T	28576872	3	4	434	1	0	0	0	0	1	0	0	0	4767	652	23	1	351	1	DSC3	18	28576872	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	25407999	28576872	49500376	73	37027											
SERPINB8	5271	broad.mit.edu	37	chr18	61649048	61649048	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtgcaggaagcatataaatGactgggtggcagagaagact	14	5	0	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:61649048G>A	ENST00000397985.2	+	4	656	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	134					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GCATATAAATGACTGGGTGGC	0.438																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(400-402)Gac>Aac		serpin peptidase inhibitor, clade B (ovalbumin), member 8							192	179	183					18																	61649048		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61649048G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.400G>A	18.37:g.61649048G>A	ENSP00000381072:p.Asp134Asn					SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000542677.1_5'UTR	p.D134N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			4	656	+		Esophageal squamous(42;0.129)	134					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.400G>A	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.93|14.93	2.682219|2.682219	0.47991|0.47991	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|.	0.82711|.	-1.64;-1.64;-1.64;-1.64|.	5.21|5.21	0.394|0.394	0.16299|0.16299	Serpin domain (3);|.	0.652336|.	0.17147|.	N|.	0.185233|.	T|T	0.50446|0.50446	0.1616|0.1616	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999996|0.999996	B;B|.	0.10296|.	0.002;0.003|.	B;B|.	0.15870|.	0.014;0.014|.	T|T	0.34775|0.34775	-0.9815|-0.9815	9|5	.|.	.|.	.|.	.|.	6.1951|6.1951	0.20546|0.20546	0.2866:0.127:0.5864:0.0|0.2866:0.127:0.5864:0.0	.|.	134;134|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	N|I	134|75	ENSP00000381072:D134N;ENSP00000331368:D134N;ENSP00000381075:D134N;ENSP00000393456:D134N|.	.|.	D|M	+|+	1|3	0|0	SERPINB8|SERPINB8	59800028|59800028	0.000000|0.000000	0.05858|0.05858	0.880000|0.880000	0.34516|0.34516	0.878000|0.878000	0.50629|0.50629	-0.673000|-0.673000	0.05239|0.05239	0.129000|0.129000	0.18514|0.18514	0.467000|0.467000	0.42956|0.42956	GAC|ATG		0.438	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		50	189	0	0	0	1	0	50	189					A	61649048	G	A	61649048	3	1	434	1	0	0	0	0	1	0	0	0	14107	1290	45	2	410	2	SERPINB8	18	61649048	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	33072176	61649048	16428200	74	37028											
REXO1	57455	broad.mit.edu	37	chr19	1827422	1827422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtggggctcggccgccGcgctggccggtcaggcctcc	17	16	1	0	rs200925900		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:1827422G>A	ENST00000170168.4	-	2	1460	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	456						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)		CTCGGCCGCCGCGCTGGCCGG	0.736													.|||	1	0.000199681	0.0	0.0	5008	,	,		9213	0.001		0.0	False		,,,				2504	0.0					ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1366-1368)Cgg>Tgg		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827422G>A	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.1366C>T	19.37:g.1827422G>A	ENSP00000170168:p.Arg456Trp						p.R456W	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		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)	2	1460	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	456					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1366C>T	CCDS32866.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.467	0.271185	0.10349	.	.	ENSG00000079313	ENST00000170168	T	0.12255	2.7	2.22	-0.578	0.11724	.	0.956135	0.08537	U	0.931153	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	P	0.51057	0.941	B	0.34452	0.183	T	0.31971	-0.9924	10	0.56958	D	0.05	-5.0E-4	4.5504	0.12108	0.1567:0.0:0.559:0.2842	.	456	Q8N1G1	REXO1_HUMAN	W	456	ENSP00000170168:R456W	ENSP00000170168:R456W	R	-	1	2	REXO1	1778422	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.382000	0.07408	0.152000	0.19188	0.555000	0.69702	CGG		0.736	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		3	20	0	0	0	1	0	3	20					A	1827422	G	A	1827422	3	1	434	1	0	0	0	0	1	0	0	0	13241	1086	38	1	2359	1	REXO1	19	1827422	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		1827422	57301561	75	37029											
EMR2	30817	broad.mit.edu	37	chr19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtagtgggccatgaggacgGcaaagctgctcaggtgggtg	18	8	1	1	rs146763976		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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)	p.A521V(1)		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						CATGAGGACGGCAAAGCTGCT	0.572																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.A521V(1)	prostate(1)	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						c.(1561-1563)gCc>gTc		egf-like module containing, mucin-like, hormone receptor-like 2		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	160	120	134		1562,1415,1283,1136,1529,1382,1250	4.1	1	19	dbSNP_134	134	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	521/824,472/775,428/731,379/682,510/813,461/764,417/720	14865794	1,13005	2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865794G>A	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.1562C>T	19.37:g.14865794G>A	ENSP00000319883:p.Ala521Val					EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000392964.3_Silent_p.C185C	p.A521V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			14	2013	-			521			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1562C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075929	0.55646	2.27E-4	0.0	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.05	4.05	0.47172	GPS domain (3);	.	.	.	.	D	0.90342	0.6978	H	0.94771	3.58	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;0.999	D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;0.999;0.999;0.995	D	0.92444	0.5964	9	0.87932	D	0	.	12.4281	0.55559	0.0:0.0:1.0:0.0	.	428;521;379;472;521;521;510	Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	V	521;510;472;428;379	ENSP00000319883:A521V;ENSP00000376694:A510V;ENSP00000263380:A472V;ENSP00000319454:A428V;ENSP00000319838:A379V	ENSP00000319883:A521V	A	-	2	0	EMR2	14726794	1.000000	0.71417	0.957000	0.39632	0.010000	0.07245	6.542000	0.73869	2.172000	0.68678	0.508000	0.49915	GCC		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	189	0	0	0	1	0	4	189					A	14865794	G	A	14865794	3	1	434	1	0	0	0	0	1	0	0	0	5105	1203	42	2	941	2	EMR2	19	14865794	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13038372	14865794	44263189	76	37030											
LPAR2	9170	broad.mit.edu	37	chr19	19737465	19737465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcacgtagaagaaaatgCgggtgtacacagccaccatg	12	11	0	2	rs201157972		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:19737465C>T	ENST00000542587.1	-	5	1531	c.629G>A	c.(628-630)cGc>cAc	p.R210H	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H|LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	210					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAAGAAAATGCGGGTGTACAC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19763	0.0		0.001	False		,,,				2504	0.0					ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(628-630)cGc>cAc		lysophosphatidic acid receptor 2							55	55	55					19																	19737465		2203	4300	6503	SO:0001583	missense	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737465C>T	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3168	protein-coding gene	gene with protein product		605110	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.629G>A	19.37:g.19737465C>T	ENSP00000443256:p.Arg210His					LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H	p.R210H			Q9HBW0	LPAR2_HUMAN			5	1531	-			210					O00543|O43431	Missense_Mutation	SNP	ENST00000542587.1	37	c.629G>A	CCDS12407.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.386	0.439350	0.12104	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.39056	1.1;1.1	4.14	-0.569	0.11756	GPCR, rhodopsin-like superfamily (1);	0.233072	0.44902	N	0.000404	T	0.22551	0.0544	N	0.17278	0.47	0.39837	D	0.973057	B	0.23854	0.092	B	0.27380	0.079	T	0.04229	-1.0967	10	0.30078	T	0.28	.	7.4262	0.27100	0.0:0.5028:0.0:0.4972	.	210	Q9HBW0	LPAR2_HUMAN	H	210	ENSP00000384665:R210H;ENSP00000443256:R210H	ENSP00000384665:R210H	R	-	2	0	LPAR2	19598465	1.000000	0.71417	0.075000	0.20258	0.002000	0.02628	0.921000	0.28718	-0.159000	0.11021	-0.258000	0.10820	CGC		0.622	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		24	120	0	0	0	1	0	24	120					T	19737465	C	T	19737465	3	4	434	1	0	0	0	0	1	0	0	0	8905	768	27	1	434	1	LPAR2	19	19737465	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4871671	19737465	39391518	77	37031											
CD22	933	broad.mit.edu	37	chr19	35835785	35835785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggactcgggtcctgcctcGccatcctcatcctggcaatc	10	16	1	0	rs575288611		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:35835785G>A	ENST00000085219.5	+	10	2155	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000419549.2_Missense_Mutation_p.A525T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	697					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)			GTCCTGCCTCGCCATCCTCAT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15696	0.0		0.0	False		,,,				2504	0.0				Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				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						c.(2089-2091)Gcc>Acc		CD22 molecule	OspA lipoprotein(DB00045)						103	103	103					19																	35835785		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35835785G>A	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.2089G>A	19.37:g.35835785G>A	ENSP00000085219:p.Ala697Thr					CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000419549.2_Missense_Mutation_p.A525T	p.A697T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	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)		10	2155	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		697					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2089G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615254	0.46631	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.57595	0.86;0.46;0.39;0.8;0.77;0.93	5.37	0.574	0.17368	.	0.470871	0.17889	N	0.158563	T	0.42108	0.1188	L	0.44542	1.39	0.09310	N	1	P;P;D;P;D	0.62365	0.912;0.933;0.979;0.853;0.991	B;B;P;B;P	0.50082	0.165;0.375;0.51;0.195;0.63	T	0.36138	-0.9760	10	0.10377	T	0.69	.	4.3527	0.11163	0.2541:0.0:0.5701:0.1759	.	525;697;609;697;520	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	T	697;609;520;697;577;525	ENSP00000085219:A697T;ENSP00000442279:A609T;ENSP00000339349:A520T;ENSP00000441237:A697T;ENSP00000270311:A577T;ENSP00000403822:A525T	ENSP00000085219:A697T	A	+	1	0	CD22	40527625	0.445000	0.25657	0.010000	0.14722	0.219000	0.24729	0.507000	0.22675	-0.038000	0.13624	0.563000	0.77884	GCC		0.627	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		132	200	0	0	0	1	0	132	200					A	35835785	G	A	35835785	3	1	434	1	0	0	0	0	1	0	0	0	2985	1087	38	1	2123	1	CD22	19	35835785	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	16098320	35835785	23293198	78	37032											
FBL	2091	broad.mit.edu	37	chr19	40331067	40331067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccctcatgccgatgCggctccaccatcacattctt	5	18	4	0	rs369326013		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:40331067C>T	ENST00000221801.3	-	3	383	c.270G>A	c.(268-270)ccG>ccA	p.P90P	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	90					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGCCGATGCGGCTCCACCA	0.622																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(268-270)ccG>ccA		fibrillarin		C		0,4406		0,0,2203	279	242	255		270	-6.6	0.8	19		255	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBL	NM_001436.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		90/322	40331067	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331067C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.270G>A	19.37:g.40331067C>T							p.P90P	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	383	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	90					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.270G>A	CCDS12545.1																																																																																				0.622	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		5	535	0	0	0	1	0	5	535					T	40331067	C	T	40331067	2	4	434	1	0	0	0	0	0	0	0	1	5696	755	27	1		1	FBL	19	40331067	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4495282	40331067	18797916	79	37033											
ZNF347	84671	broad.mit.edu	37	chr19	53644511	53644511	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttgcaaggtgtgaattttGagtgaagaccttgccacatt	10	6	0	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:53644511G>C	ENST00000334197.7	-	5	1638	c.1570C>G	c.(1570-1572)Caa>Gaa	p.Q524E	ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E|ZNF347_ENST00000452676.2_Missense_Mutation_p.Q525E|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	524					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)		TGTGAATTTTGAGTGAAGACC	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1573-1575)Caa>Gaa		zinc finger protein 347							140	139	139					19																	53644511		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644511G>C	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.1570C>G	19.37:g.53644511G>C	ENSP00000334146:p.Gln524Glu					ZNF347_ENST00000334197.7_Missense_Mutation_p.Q524E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E	p.Q525E	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1999	-			524					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1573C>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104408	0.37145	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07327	3.2;3.2	3.01	-6.02	0.02192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	L	0.43554	1.36	0.09310	N	1	D;B	0.65815	0.995;0.338	P;B	0.52598	0.703;0.053	T	0.03981	-1.0987	9	0.29301	T	0.29	.	3.4353	0.07444	0.0897:0.1504:0.2364:0.5235	.	525;524	G5E9N4;Q96SE7	.;ZN347_HUMAN	E	524;525	ENSP00000334146:Q524E;ENSP00000405218:Q525E	ENSP00000334146:Q524E	Q	-	1	0	ZNF347	58336323	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-0.633000	0.05483	-1.186000	0.02713	-0.182000	0.12963	CAA		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		11	428	0	0	0	1	0	11	428					C	53644511	G	C	53644511	3	2	434	1	0	0	0	0	1	0	0	0	17858	1299	45	4	953	4	ZNF347	19	53644511	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13313444	53644511	5484472	80	37034											
BTBD3	22903	broad.mit.edu	37	chr20	11899098	11899100	+	In_Frame_Del	DEL	AAG	AAG	-													taattaccttgaagactaaaAagaagaagatggctgctgat							TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr20:11899098_11899100delAAG	ENST00000405977.1	+	2	800_802	c.175_177delAAG	c.(175-177)aagdel	p.K61del	BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAAGACTAAAAAGAAGAAGATGG	0.453																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(175-177)del		BTB (POZ) domain containing 3			,	8,4256		4,0,2128					,	4	1			146	20,8234		10,0,4117	no	utr-5,coding	BTBD3	NM_181443.1,NM_014962.2	,	14,0,6245	A1A1,A1R,RR		0.2423,0.1876,0.2237	,	,		28,12490				SO:0001651	inframe_deletion	22903							g.chr20:11899098_11899100delAAG	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"BTB/POZ domain containing"	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.175_177delAAG	20.37:g.11899104_11899106delAAG	ENSP00000384545:p.Lys61del					BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del	p.K61del			Q9Y2F9	BTBD3_HUMAN			2	800_802	+			61					D3DW19|Q5JY73	In_Frame_Del	DEL	ENST00000405977.1	37	c.175_177delAAG	CCDS13113.1																																																																																				0.453	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			129	300						129	300	---	---	---	---	-	11899100	AAG	-	11899098	7	5	434	1	0	1	0	1	0	0	0	0	1544	15	1	0	177	0	BTBD3	20	11899098	In_Frame_Del	DEL	AAG	TCGA-S9-A6WM-01A-12D-A33T-08		11899098	51126422	81	37035											
C20orf12	55184	broad.mit.edu	37	chr20	18429670	18429670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattctcattatctccgtgCttgtcaaacacttctgaccg	6	12	4	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr20:18429670C>A	ENST00000358866.6	-	6	609	c.587G>T	c.(586-588)aGc>aTc	p.S196I	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.S196I|DZANK1_ENST00000329494.5_Missense_Mutation_p.S198I|DZANK1_ENST00000357236.4_Missense_Mutation_p.S82I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	196							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TATCTCCGTGCTTGTCAAACA	0.368																																						ENST00000357236.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						c.(244-246)aGc>aTc		double zinc ribbon and ankyrin repeat domains 1							142	132	135					20																	18429670		1859	4101	5960	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18429670C>A	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.587G>T	20.37:g.18429670C>A	ENSP00000351734:p.Ser196Ile					DZANK1_ENST00000262547.5_Missense_Mutation_p.S196I|DZANK1_ENST00000377630.5_Missense_Mutation_p.S23I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.S198I	p.S82I			Q9NVP4	CT012_HUMAN			8	904	-			23					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.245G>T	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048468	0.75846	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.0	4.04	0.47022	.	0.423688	0.31721	N	0.007168	T	0.55737	0.1939	M	0.64997	1.995	0.44006	D	0.996713	D;D;P	0.64830	0.969;0.994;0.832	P;P;B	0.61800	0.787;0.894;0.389	T	0.57602	-0.7783	10	0.56958	D	0.05	-23.4227	11.962	0.53013	0.0:0.9089:0.0:0.0911	.	215;82;196	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	I	23;196;198;22;22;82	ENSP00000366857:S23I;ENSP00000262547:S196I;ENSP00000328866:S198I;ENSP00000349774:S82I	ENSP00000262547:S196I	S	-	2	0	C20orf12	18377670	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.584000	0.46102	2.463000	0.83235	0.650000	0.86243	AGC		0.368	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		4	195	1	0	1	1	1	4	195					A	18429670	C	A	18429670	3	1	434	1	0	0	0	0	1	0	0	0	2085	797	28	4	1731	4	C20orf12	20	18429670	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	6530572	18429670	44595850	82	37036											
SPIN4	139886	broad.mit.edu	37	chrX	62570231	62570231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagaacaggatctttctcGtaggtgatgtaaaaccaagt	10	6	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:62570231G>A	ENST00000335144.3	-	1	987	c.468C>T	c.(466-468)taC>taT	p.Y156Y	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Silent_p.Y138Y	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	156					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GATCTTTCTCGTAGGTGATGT	0.448																																						ENST00000374884.2																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(412-414)taC>taT		spindlin family, member 4							138	132	134					X																	62570231		2045	4180	6225	SO:0001819	synonymous_variant	139886				gamete generation			g.chrX:62570231G>A	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.468C>T	X.37:g.62570231G>A						SPIN4_ENST00000335144.3_Silent_p.Y156Y|SPIN4-AS1_ENST00000451979.1_RNA	p.Y138Y			Q56A73	SPIN4_HUMAN			1	992	-			156					B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	c.414C>T	CCDS43964.1																																																																																				0.448	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		6	234	0	0	0	1	0	6	234					A	62570231	G	A	62570231	2	1	434	1	0	0	0	0	0	0	0	1	15055	1140	40	1		1	SPIN4	23	62570231	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		62570231	92700329	83	37037											
P2RY4	5030	broad.mit.edu	37	chrX	69478764	69478764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagcggaggcgagaagaCgactgtgcagagcctggcaa	17	8	0	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:69478764C>T	ENST00000374519.2	-	1	890	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	237					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						GGCGAGAAGACGACTGTGCAG	0.577																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(709-711)tcG>tcA		pyrimidinergic receptor P2Y, G-protein coupled, 4							72	63	66					X																	69478764		2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478764C>T	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.711G>A	X.37:g.69478764C>T							p.S237S	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	890	-			237					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.711G>A	CCDS14398.1																																																																																				0.577	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		44	27	0	0	0	1	0	44	27					T	69478764	C	T	69478764	2	4	434	1	0	0	0	0	0	0	0	1	11353	523	19	1		1	P2RY4	23	69478764	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	6908533	69478764	85791796	84	37038											
MAGEE1	57692	broad.mit.edu	37	chrX	75648839	75648839	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacccctggtgagggaacGagcacctccgtgccgcccac	11	19	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:75648839G>A	ENST00000361470.2	+	1	794	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	172	Pro-rich.					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						GTGAGGGAACGAGCACCTCCG	0.682																																						ENST00000361470.2																			0				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						c.(514-516)acG>acA		melanoma antigen family E, 1							31	28	29					X																	75648839		2202	4300	6502	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648839G>A	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.516G>A	X.37:g.75648839G>A							p.T172T	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	794	+			172			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.516G>A	CCDS14433.1																																																																																				0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		40	47	0	0	0	1	0	40	47					A	75648839	G	A	75648839	2	1	434	1	0	0	0	0	0	0	0	1	9185	1045	37	1		1	MAGEE1	23	75648839	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	6170075	75648839	79621721	85	37039											
ARMCX5	64860	broad.mit.edu	37	chrX	101858274	101858274	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtttgtaaaggcataatctCttgccccttgaactcccctg	7	12	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:101858274C>A	ENST00000604957.1	+	1	3827	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	402										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCATAATCTCTTGCCCCTTG	0.423																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1204-1206)tCt>tAt		armadillo repeat containing, X-linked 5							58	58	58					X																	101858274		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101858274C>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1205C>A	X.37:g.101858274C>A	ENSP00000474720:p.Ser402Tyr					RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y	p.S402Y	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3827	+			402					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.1205C>A	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	1.997	-0.430418	0.04669	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	3.9	1.01	0.19927	Armadillo-like helical (1);Armadillo-type fold (1);	0.767473	0.11173	N	0.591775	T	0.27278	0.0669	L	0.60455	1.87	0.09310	N	1	P	0.40970	0.734	B	0.38378	0.272	T	0.15549	-1.0433	10	0.62326	D	0.03	-0.3625	5.6855	0.17801	0.0:0.5176:0.3683:0.1141	.	402	Q6P1M9	ARMX5_HUMAN	Y	402	ENSP00000246174:S402Y;ENSP00000439001:S402Y;ENSP00000446385:S402Y;ENSP00000445851:S402Y;ENSP00000361827:S402Y	ENSP00000246174:S402Y	S	+	2	0	ARMCX5	101744930	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.175000	0.09825	0.085000	0.17107	0.529000	0.55759	TCT		0.423	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		15	195	1	0	1.37285e-15	1	1.45866e-15	15	195					A	101858274	C	A	101858274	3	1	434	1	0	0	0	0	1	0	0	0	962	913	32	4	1207	4	ARMCX5	23	101858274	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	26209435	101858274	53412286	86	37040											
RNF128	79589	broad.mit.edu	37	chrX	105937249	105937249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaatgaaccaggagaataGgtccagttttttttggctcc	10	8	0	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:105937249G>T	ENST00000324342.3	+	1	182	c.17G>T	c.(16-18)aGg>aTg	p.R6M		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAGGAGAATAGGTCCAGTTTT	0.348																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(16-18)aGg>aTg		ring finger protein 128, E3 ubiquitin protein ligase							67	71	69					X																	105937249		2203	4299	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937249G>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.17G>T	X.37:g.105937249G>T	ENSP00000316127:p.Arg6Met						p.R6M	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	182	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.17G>T	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	0.658	-0.806756	0.02819	.	.	ENSG00000133135	ENST00000324342	T	0.10960	2.82	6.03	2.12	0.27331	.	.	.	.	.	T	0.09949	0.0244	.	.	.	0.09310	N	0.999997	B	0.27765	0.188	B	0.30401	0.115	T	0.29971	-0.9994	8	0.56958	D	0.05	.	8.1572	0.31176	0.6836:0.0:0.3164:0.0	.	6	Q8TEB7-2	.	M	6	ENSP00000316127:R6M	ENSP00000316127:R6M	R	+	2	0	RNF128	105823905	0.906000	0.30813	0.001000	0.08648	0.001000	0.01503	2.558000	0.45879	0.048000	0.15891	-1.203000	0.01651	AGG		0.348	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		15	135	1	0	2.48551e-13	1	2.61362e-13	15	135					T	105937249	G	T	105937249	3	4	434	1	0	0	0	0	1	0	0	0	13436	1000	35	4	19	4	RNF128	23	105937249	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	4078975	105937249	49333311	87	37041											
CUL4B	8450	broad.mit.edu	37	chrX	119677613	119677613	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctaagtaagtaataagtcTgtctgcttcttcttctagac	6	8	6	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:119677613T>A	ENST00000404115.3	-	10	1680	c.1279A>T	c.(1279-1281)Aga>Tga	p.R427*	CUL4B_ENST00000371322.5_Nonsense_Mutation_p.R409*|snoU13_ENST00000605987.1_RNA|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	427					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAATAAGTCTGTCTGCTTCT	0.353																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1225-1227)Aga>Tga		cullin 4B							258	250	252					X																	119677613		2203	4300	6503	SO:0001587	stop_gained	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119677613T>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1279A>T	X.37:g.119677613T>A	ENSP00000384109:p.Arg427*					CUL4B_ENST00000404115.3_Nonsense_Mutation_p.R427*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414*	p.R409*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			8	1286	-			427					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	c.1225A>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	T	37	6.071781	0.97256	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	.	.	.	6.03	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5176	10.2306	0.43253	0.0:0.0772:0.0:0.9228	.	.	.	.	X	409;414;427;231	.	.	R	-	1	2	CUL4B	119561641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.015000	0.57152	0.895000	0.36342	0.486000	0.48141	AGA		0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		82	102	0	0	0	1	0	82	102					A	119677613	T	A	119677613	4	1	434	1	0	0	0	0	0	1	0	0	4058	1588	55	5	1514	5	CUL4B	23	119677613	Nonsense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	13740364	119677613	35592947	88	37042											
ODZ1	10178	broad.mit.edu	37	chrX	123516546	123516546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatcccactcttgagtttTtgtctgaagccgtagaagct	10	9	2	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:123516546T>C	ENST00000371130.3	-	30	7456	c.7393A>G	c.(7393-7395)Aaa>Gaa	p.K2465E	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.K2472E	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2465					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)										TCTTGAGTTTTTGTCTGAAGC	0.363																																						ENST00000422452.2																			0											c.(7414-7416)Aaa>Gaa		teneurin transmembrane protein 1							95	102	99					X																	123516546		2203	4299	6502	SO:0001583	missense	10178							g.chrX:123516546T>C	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.7393A>G	X.37:g.123516546T>C	ENSP00000360171:p.Lys2465Glu					TENM1_ENST00000371130.3_Missense_Mutation_p.K2465E|STAG2_ENST00000469481.1_Intron	p.K2472E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					31	7477	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7414A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760597	0.31137	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.61	4.44	0.53790	.	0.183068	0.50627	D	0.000109	T	0.73353	0.3576	L	0.33485	1.01	0.37488	D	0.916289	B;B;P	0.39940	0.278;0.07;0.696	B;B;B	0.35931	0.057;0.035;0.214	T	0.69764	-0.5057	10	0.26408	T	0.33	.	6.8084	0.23790	0.0:0.0775:0.1491:0.7734	.	2471;2472;2465	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	E	2465;2472	ENSP00000360171:K2465E;ENSP00000403954:K2472E	ENSP00000360171:K2465E	K	-	1	0	ODZ1	123344227	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	4.986000	0.63851	0.755000	0.32990	0.486000	0.48141	AAA		0.363	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		131	233	0	0	0	1	0	131	233					C	123516546	T	C	123516546	3	2	434	1	0	0	0	0	1	0	0	0	10834	1850	64	3	792	3	ODZ1	23	123516546	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	3838933	123516546	31754014	89	37043											
SAGE1	55511	broad.mit.edu	37	chrX	134989501	134989501	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccctcacaatgtctgtgaaGagaagatggaaaatgaccaa	9	8	2	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:134989501G>T	ENST00000370709.3	+	8	907	c.907G>T	c.(907-909)Gag>Tag	p.E303*	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000535938.1_Nonsense_Mutation_p.E303*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	303						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)					TGTCTGTGAAGAGAAGATGGA	0.428																																						ENST00000535938.1																			0				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						c.(907-909)Gag>Tag		sarcoma antigen 1							130	106	114					X																	134989501		2203	4300	6503	SO:0001587	stop_gained	55511							g.chrX:134989501G>T	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.907G>T	X.37:g.134989501G>T	ENSP00000359743:p.Glu303*					SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E303*	p.E303*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			9	1074	+	Acute lymphoblastic leukemia(192;0.000127)		303					Q5JNW0	Nonsense_Mutation	SNP	ENST00000370709.3	37	c.907G>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775398	0.31411	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	.	.	.	1.56	-0.379	0.12493	.	0.549741	0.18011	U	0.154560	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	1.9925	0.03449	0.2185:0.0:0.4664:0.3151	.	.	.	.	X	303	.	ENSP00000323191:E303X	E	+	1	0	SAGE1	134817167	0.986000	0.35501	0.009000	0.14445	0.002000	0.02628	0.839000	0.27586	-0.220000	0.09988	-1.103000	0.02113	GAG		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		5	272	1	0	0.0215528	1	0.0222059	5	272					T	134989501	G	T	134989501	4	4	434	1	0	0	0	0	0	1	0	0	13809	943	33	4	937	4	SAGE1	23	134989501	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	11472955	134989501	20281059	90	37044											
SLITRK4	139065	broad.mit.edu	37	chrX	142717979	142717979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggctttgcctgcaaCgattccagagatcttggaag	14	8	1	2	rs142699085	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:142717979C>T	ENST00000381779.4	-	2	1171	c.946G>A	c.(946-948)Gtt>Att	p.V316I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I	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	316						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)					TTGCCTGCAACGATTCCAGAG	0.473																																						ENST00000381779.4																			0				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						c.(946-948)Gtt>Att		SLIT and NTRK-like family, member 4							156	140	145					X																	142717979		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717979C>T	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.946G>A	X.37:g.142717979C>T	ENSP00000371198:p.Val316Ile					SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I	p.V316I	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.946G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297080	0.23650	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52754	0.65;0.65;0.65	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	N	0.19112	0.55	0.80722	D	1	B	0.34264	0.446	B	0.24394	0.053	T	0.10474	-1.0628	10	0.33141	T	0.24	-8.7004	17.551	0.87875	0.0:1.0:0.0:0.0	.	316	Q8IW52	SLIK4_HUMAN	I	316	ENSP00000371198:V316I;ENSP00000349400:V316I;ENSP00000336627:V316I	ENSP00000336627:V316I	V	-	1	0	SLITRK4	142545645	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	4.627000	0.61276	2.471000	0.83476	0.600000	0.82982	GTT		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		112	197	0	0	0	1	0	112	197					T	142717979	C	T	142717979	3	4	434	1	0	0	0	0	1	0	0	0	14745	536	19	1	1571	1	SLITRK4	23	142717979	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	7728478	142717979	12552581	91	37045											
ASTN1	460	broad.mit.edu	37	chr1	176915088	176915088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctttcagcacctgtccGgcagccacttccttggaatg	9	14	1	0	rs138093855		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:176915088G>A	ENST00000367654.3	-	13	2458	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	ASTN1_ENST00000367657.3_Silent_p.A741A|ASTN1_ENST00000424564.2_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.A741A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	749					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						GCACCTGTCCGGCAGCCACTT	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.0					ENST00000367654.2																			0				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						c.(2245-2247)gcC>gcT		astrotactin 1		G	,	1,4405	2.1+/-5.4	0,1,2202	110	118	115		2223,2223	-1.5	0.5	1	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	741/1295,741/1217	176915088	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915088G>A	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.2247C>T	1.37:g.176915088G>A						ASTN1_ENST00000361833.2_Silent_p.A741A|ASTN1_ENST00000367657.3_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.A741A	p.A749A			O14525	ASTN1_HUMAN			13	2260	-			749					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2247C>T																																																																																					0.463	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	286	0	0	0	1	0	6	286					A	176915088	G	A	176915088	2	1	435	1	0	0	0	0	0	0	0	1	1064	1103	39	1		1	ASTN1	1	176915088	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		176915088	72335533	1	37046											
ZNF281	23528	broad.mit.edu	37	chr1	200376612	200376614	+	In_Frame_Del	DEL	AAC	AAC	-													aaagacctggctgagatccaAacaacatcccaaaaggaggc							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:200376612_200376614delAAC	ENST00000294740.3	-	2	2344_2346	c.2220_2222delGTT	c.(2218-2223)ttgttt>ttt	p.L740del	ZNF281_ENST00000367352.3_In_Frame_Del_p.L704del|ZNF281_ENST00000367353.1_In_Frame_Del_p.L740del	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	740					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGAGATCCAAACAACATCCCAA	0.443																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2218-2223)ttt>tt		zinc finger protein 281																																				SO:0001651	inframe_deletion	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376612_200376614delAAC	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2220_2222delGTT	1.37:g.200376615_200376617delAAC	ENSP00000294740:p.Leu740del					ZNF281_ENST00000367353.1_In_Frame_Del_p.LF740del|ZNF281_ENST00000367352.3_In_Frame_Del_p.LF704del	p.LF740del	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2344_2346	-			740					A6NF48|B3KMX2|Q5RKW5|Q9NY92	In_Frame_Del	DEL	ENST00000294740.3	37	c.2220_2222delGTT	CCDS1402.1																																																																																				0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		8	166						8	166	---	---	---	---	-	200376614	AAC	-	200376612	7	5	435	1	0	1	0	1	0	0	0	0	17815	14	1	0	469	0	ZNF281	1	200376612	In_Frame_Del	DEL	AAC	TCGA-S9-A6WN-01A-12D-A33T-08	23461524	200376612	48874009	2	37047											
CR2	1380	broad.mit.edu	37	chr1	207639979	207639979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgttcaggtaccttccGcctcattggagaaaaaagtc	9	10	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:207639979G>A	ENST00000367058.3	+	2	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367057.3_Missense_Mutation_p.R56H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	56	Sushi 1. {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						GGTACCTTCCGCCTCATTGGA	0.408																																						ENST00000367057.3																			0				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						c.(166-168)cGc>cAc		complement component (3d/Epstein Barr virus) receptor 2							107	108	108					1																	207639979		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207639979G>A	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.167G>A	1.37:g.207639979G>A	ENSP00000356025:p.Arg56His					CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367058.3_Missense_Mutation_p.R56H	p.R56H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	356	+			56			Sushi 1.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.167G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921572	0.52653	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.74168	0.3681	L	0.58428	1.81	0.47065	D	0.9993	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72075	0.972;0.976;0.94	T	0.75059	-0.3451	9	0.54805	T	0.06	.	13.4636	0.61241	0.0:0.0:1.0:0.0	.	56;56;56	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	56	ENSP00000356025:R56H;ENSP00000356024:R56H;ENSP00000356026:R56H;ENSP00000404222:R56H	ENSP00000356024:R56H	R	+	2	0	CR2	205706602	0.221000	0.23642	0.993000	0.49108	0.196000	0.23810	1.842000	0.39250	2.560000	0.86352	0.655000	0.94253	CGC		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		63	212	0	0	0	1	0	63	212					A	207639979	G	A	207639979	3	1	435	1	0	0	0	0	1	0	0	0	3842	1087	38	1	173	1	CR2	1	207639979	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	7263367	207639979	41610642	3	37048											
CDC42BPA	8476	broad.mit.edu	37	chr1	227218139	227218141	+	In_Frame_Del	DEL	CTT	CTT	-													gacatgtacaacaaataaccCttcttcgtttcccaaagcaa							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:227218139_227218141delCTT	ENST00000366769.3	-	28	4992_4994	c.3701_3703delAAG	c.(3700-3705)gaaggg>ggg	p.E1234del	CDC42BPA_ENST00000366766.2_In_Frame_Del_p.E1269del|CDC42BPA_ENST00000535525.1_In_Frame_Del_p.E1214del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.E1234del|CDC42BPA_ENST00000366767.3_In_Frame_Del_p.E1153del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.E1206del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.E1247del	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E1234D(1)|p.E1153D(1)|p.E1269D(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACAAATAACCCTTCTTCGTTTCC	0.276																																						ENST00000366769.3																			3	Substitution - Missense(3)	p.E1234D(1)|p.E1153D(1)|p.E1269D(1)	endometrium(3)	NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3700-3705)ggg>g		CDC42 binding protein kinase alpha (DMPK-like)																																				SO:0001651	inframe_deletion	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227218139_227218141delCTT	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3701_3703delAAG	1.37:g.227218142_227218144delCTT	ENSP00000355731:p.Glu1234del					CDC42BPA_ENST00000366767.3_In_Frame_Del_p.EG1153del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.EG1247del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.EG1206del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.EG1234del|CDC42BPA_ENST00000366766.2_In_Frame_Del_p.EG1269del|CDC42BPA_ENST00000535525.1_In_Frame_Del_p.EG1214del	p.EG1234del	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			28	4992_4994	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1247			CNH.			In_Frame_Del	DEL	ENST00000366769.3	37	c.3701_3703delAAG	CCDS1558.1																																																																																				0.276	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		52	230						52	230	---	---	---	---	-	227218141	CTT	-	227218139	7	5	435	1	0	1	0	1	0	0	0	0	3072	681	24	0	1492	0	CDC42BPA	1	227218139	In_Frame_Del	DEL	CTT	TCGA-S9-A6WN-01A-12D-A33T-08	19578160	227218139	22032482	4	37049											
C2orf42	54980	broad.mit.edu	37	chr2	70408448	70408450	+	In_Frame_Del	DEL	AGA	AGA	-													tttcagagtctgacaggagcAgaagaagcggcgctcaggca							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:70408448_70408450delAGA	ENST00000264434.2	-	3	1047_1049	c.668_670delTCT	c.(667-672)ttctgc>tgc	p.F223del	C2orf42_ENST00000420306.1_In_Frame_Del_p.F223del|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	223										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGACAGGAGCAGAAGAAGCGGCG	0.488																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(667-672)tgc>t		chromosome 2 open reading frame 42																																				SO:0001651	inframe_deletion	54980							g.chr2:70408448_70408450delAGA	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.668_670delTCT	2.37:g.70408451_70408453delAGA	ENSP00000264434:p.Phe223del					C2orf42_ENST00000420306.1_In_Frame_Del_p.FC223del	p.FC223del	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	1047_1049	-			223					D6W5G3|Q9H629	In_Frame_Del	DEL	ENST00000264434.2	37	c.668_670delTCT	CCDS1899.1																																																																																				0.488	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		45	237						45	237	---	---	---	---	-	70408450	AGA	-	70408448	7	5	435	1	0	1	0	1	0	0	0	0	2166	188	7	0	1086	0	C2orf42	2	70408448	In_Frame_Del	DEL	AGA	TCGA-S9-A6WN-01A-12D-A33T-08		70408448	172790925	5	37050											
SCN3A	6328	broad.mit.edu	37	chr2	165953004	165953004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaacagctgcatacatAatatccatccagcctttaaa	4	11	1	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:165953004A>C	ENST00000360093.3	-	24	4757	c.4266T>G	c.(4264-4266)atT>atG	p.I1422M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1422					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)	CTGCATACATAATATCCATCC	0.299																																						ENST00000360093.3																			0				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						c.(4264-4266)atT>atG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						90	91	90					2																	165953004		2202	4289	6491	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953004A>C	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.4266T>G	2.37:g.165953004A>C	ENSP00000353206:p.Ile1422Met					SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M	p.I1422M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			24	4757	-			1422					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4266T>G		.	.	.	.	.	.	.	.	.	.	A	17.96	3.516654	0.64634	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.97941	-4.62;-4.62;-4.62	5.37	2.87	0.33458	.	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.94142	3.5	0.80722	D	1	P;P;D	0.89917	0.527;0.527;1.0	B;B;D	0.87578	0.299;0.299;0.998	D	0.97677	1.0170	10	0.87932	D	0	.	5.8619	0.18752	0.6734:0.0:0.07:0.2566	.	1373;1373;1422	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1422;1422;1373	ENSP00000353206:I1422M;ENSP00000283254:I1422M;ENSP00000386726:I1373M	ENSP00000283254:I1422M	I	-	3	3	SCN3A	165661250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.894000	0.28350	0.374000	0.24650	0.459000	0.35465	ATT		0.299	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		19	90	0	0	0	1	0	19	90					C	165953004	A	C	165953004	3	2	435	1	0	0	0	0	1	0	0	0	13918	358	13	5	1756	5	SCN3A	2	165953004	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	95544556	165953004	77246369	6	37051											
TTN	7273	broad.mit.edu	37	chr2	179444038	179444038	+	Frame_Shift_Del	DEL	G	G	-													ggagctggcttgccttttatGgggatcttaagccggaagtt							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179444038delG	ENST00000591111.1	-	270	63020	c.62796delC	c.(62794-62796)cccfs	p.P20932fs	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.P22573fs|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20932	Ig-like 112.				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)			TGCCTTTTATGGGGATCTTAA	0.453																																						ENST00000589042.1																			0				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						c.(67717-67719)ccfs		titin							68	67	67					2																	179444038		1916	4124	6040	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444038delG	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.62796delC	2.37:g.179444038delG	ENSP00000465570:p.Pro20932fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.P20932fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000585451.1_RNA	p.P22573fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	67943	-			20932			Fibronectin type-III 63.		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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.67719delC																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	122						35	122	---	---	---	---	-	179444038	G	-	179444038	7	5	435	1	0	1	0	1	0	0	0	0	16732	1335	47	0	40432	0	TTN	2	179444038	Frame_Shift_Del	DEL	G	TCGA-S9-A6WN-01A-12D-A33T-08	13491034	179444038	63755335	7	37052											
TTN	7273	broad.mit.edu	37	chr2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttcaggttttttggcaaCgacagcaggtgctttctttt	10	7	2	0	rs374394719	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179516426C>T	ENST00000591111.1	-	161	35133	c.34909G>A	c.(34909-34911)Gtt>Att	p.V11637I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13144I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11637	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)			TTTTTGGCAACGACAGCAGGT	0.398													C|||	4	0.000798722	0.003	0.0	5008	,	,		18858	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(39430-39432)Gtt>Att		titin		C	,,,ILE/VAL	2,3746		0,2,1872	125	117	120		,,,32128	-3.8	0	2		120	0,8214		0,0,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,29	0,2,5979	TT,TC,CC		0.0,0.0534,0.0167	,,,benign	,,,10710/33424	179516426	2,11960	1874	4107	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516426C>T	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.34909G>A	2.37:g.179516426C>T	ENSP00000465570:p.Val11637Ile					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I	p.V13144I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		206	39654	-			11497			Ig-like 87.		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	ENST00000591111.1	37	c.39430G>A		.	.	.	.	.	.	.	.	.	.	C	11.52	1.662597	0.29515	5.34E-4	0.0	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.13	-3.79	0.04320	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49115	0.1538	L	0.33485	1.01	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	9	0.87932	D	0	.	13.1812	0.59655	0.0:0.4354:0.0:0.5645	.	11637	Q8WZ42	TITIN_HUMAN	I	10710	ENSP00000343764:V10710I	ENSP00000343764:V10710I	V	-	1	0	TTN	179224671	0.000000	0.05858	0.002000	0.10522	0.904000	0.53231	-3.768000	0.00371	-0.939000	0.03709	0.650000	0.86243	GTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	47	0	0	0	1	0	15	47					T	179516426	C	T	179516426	3	4	435	1	0	0	0	0	1	0	0	0	16732	536	19	1	68469	1	TTN	2	179516426	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	72388	179516426	63682947	8	37053											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	132	0	0	0	1	0	36	132					T	209113112	C	T	209113112	3	4	435	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	29596686	209113112	34086261	9	37054											
COL6A3	1293	broad.mit.edu	37	chr2	238270426	238270426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggtctcccctctgccCagagcacttgcagggaaccc	10	19	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:238270426C>T	ENST00000295550.4	-	15	6564	c.6112G>A	c.(6112-6114)Ggg>Agg	p.G2038R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2038	Collagen-like 1.|Nonhelical region.				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)		CCCCTCTGCCCAGAGCACTTG	0.567																																						ENST00000295550.4																			0				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						c.(6112-6114)Ggg>Agg		collagen, type VI, alpha 3							79	83	81					2																	238270426		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238270426C>T	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.6112G>A	2.37:g.238270426C>T	ENSP00000295550:p.Gly2038Arg					COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R	p.G2038R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	15	6564	-		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)	2038			Collagen-like 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6112G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905553	0.52333	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.15;-5.77;-5.15;-5.77	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000070	D	0.99573	0.9846	M	0.92970	3.365	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	0.98208	1.0471	10	0.62326	D	0.03	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	1431;1832;2038	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2038;1837;1832;1431;1832;1838	ENSP00000295550:G2038R;ENSP00000315609:G1837R;ENSP00000315873:G1832R;ENSP00000418285:G1431R;ENSP00000386844:G1832R;ENSP00000295546:G1838R	ENSP00000295550:G2038R	G	-	1	0	COL6A3	237935165	1.000000	0.71417	0.993000	0.49108	0.687000	0.40016	7.346000	0.79347	2.513000	0.84729	0.650000	0.86243	GGG		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		22	121	0	0	0	1	0	22	121					T	238270426	C	T	238270426	3	4	435	1	0	0	0	0	1	0	0	0	3701	594	21	2	3541	2	COL6A3	2	238270426	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	29157314	238270426	4928947	10	37055											
TRAK1	22906	broad.mit.edu	37	chr3	42264535	42264535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagactgagcctggctgagtCcttcactaacacccgtgagt	11	12	1	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:42264535C>A	ENST00000327628.5	+	16	2568	c.2168C>A	c.(2167-2169)tCc>tAc	p.S723Y	RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGGCTGAGTCCTTCACTAAC	0.607																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2167-2169)tCc>tAc		trafficking protein, kinesin binding 1							71	79	77					3																	42264535		2115	4235	6350	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42264535C>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2168C>A	3.37:g.42264535C>A	ENSP00000328998:p.Ser723Tyr					TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y	p.S723Y	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			16	2568	+			723					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2168C>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775050	0.70107	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.50548	0.74;0.74	5.32	5.32	0.75619	Trafficking kinesin-binding protein domain (1);	0.215867	0.41938	D	0.000794	T	0.62134	0.2403	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.68483	0.958;0.925	T	0.64676	-0.6351	10	0.87932	D	0	.	17.9738	0.89121	0.0:1.0:0.0:0.0	.	665;723	C9JC32;Q9UPV9	.;TRAK1_HUMAN	Y	723;702;665	ENSP00000328998:S723Y;ENSP00000379478:S665Y	ENSP00000328998:S723Y	S	+	2	0	TRAK1	42239539	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.636000	0.61339	2.514000	0.84764	0.591000	0.81541	TCC		0.607	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		4	99	1	0	1	1	1	4	99					A	42264535	C	A	42264535	3	1	435	1	0	0	0	0	1	0	0	0	16446	855	30	4	2618	4	TRAK1	3	42264535	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08		42264535	155757895	11	37056											
SACM1L	22908	broad.mit.edu	37	chr3	45751042	45751042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtcttgaatgtggAtggattttacttttcaacaa	7	6	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:45751042A>G	ENST00000389061.5	+	5	590	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G	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)		TTGAATGTGGATGGATTTTAC	0.353																																						ENST00000389061.5																			0				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						c.(385-387)gAt>gGt		SAC1 suppressor of actin mutations 1-like (yeast)							126	120	122					3																	45751042		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45751042A>G	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.386A>G	3.37:g.45751042A>G	ENSP00000373713:p.Asp129Gly					SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G|SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G	p.D129G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	5	590	+			129			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.386A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146332	0.57044	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000438671;ENST00000541314	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	6.17	6.17	0.99709	Synaptojanin, N-terminal (2);	0.049784	0.85682	D	0.000000	T	0.30293	0.0760	N	0.02736	-0.51	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.006	T	0.21793	-1.0235	10	0.16420	T	0.52	-30.3502	16.8222	0.85835	1.0:0.0:0.0:0.0	.	68;129	B4DK71;Q9NTJ5	.;SAC1_HUMAN	G	26;129;68;68	ENSP00000396387:D26G;ENSP00000373713:D129G;ENSP00000411966:D68G;ENSP00000443373:D68G	ENSP00000373713:D129G	D	+	2	0	SACM1L	45726046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.371000	0.80710	0.533000	0.62120	GAT		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		35	141	0	0	0	1	0	35	141					G	45751042	A	G	45751042	3	3	435	1	0	0	0	0	1	0	0	0	13803	333	12	3	404	3	SACM1L	3	45751042	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	3486507	45751042	152271388	12	37057											
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	6	0	0	rs121913272		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		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.C420R(40)		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)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		40	Substitution - Missense(40)	p.C420R(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)	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						c.(1258-1260)Tgt>Cgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							85	80	82					3																	178927980		1822	4078	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927980T>C		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.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C420R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1415	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		420		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1258T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			35	122	0	0	0	1	0	35	122					C	178927980	T	C	178927980	3	2	435	1	0	0	0	0	1	0	0	0	11913	1580	55	3	1284	3	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-S9-A6WN-01A-12D-A33T-08	133176938	178927980	19094450	13	37058											
FRAS1	80144	broad.mit.edu	37	chr4	79387504	79387504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagctacagccatgacgGcagtaactccctcaaggacc	10	14	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:79387504G>A	ENST00000264895.6	+	50	7612	c.7172G>A	c.(7171-7173)gGc>gAc	p.G2391D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2391					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						AGCCATGACGGCAGTAACTCC	0.532																																						ENST00000264895.6																			0				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						c.(7171-7173)gGc>gAc		Fraser syndrome 1							77	80	79					4																	79387504		2129	4236	6365	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79387504G>A	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.7172G>A	4.37:g.79387504G>A	ENSP00000264895:p.Gly2391Asp						p.G2391D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			50	7612	+			2390					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7172G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005116	0.93287	.	.	ENSG00000138759	ENST00000264895	T	0.11385	2.78	5.53	5.53	0.82687	.	0.297141	0.36665	N	0.002479	T	0.28200	0.0696	M	0.64404	1.975	0.80722	D	1	D	0.58620	0.983	P	0.56563	0.801	T	0.00274	-1.1857	10	0.72032	D	0.01	.	19.8265	0.96619	0.0:0.0:1.0:0.0	.	2391	E9PHH6	.	D	2391	ENSP00000264895:G2391D	ENSP00000264895:G2391D	G	+	2	0	FRAS1	79606528	1.000000	0.71417	0.996000	0.52242	0.732000	0.41865	9.539000	0.98076	2.769000	0.95229	0.585000	0.79938	GGC		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	63	0	0	0	1	0	18	63					A	79387504	G	A	79387504	3	1	435	1	0	0	0	0	1	0	0	0	6042	1203	42	2	7445	2	FRAS1	4	79387504	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		79387504	111766772	14	37059											
SKIV2L2	23517	broad.mit.edu	37	chr5	54654435	54654435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacattcagatgtctggtcGtgctggaaggagaggaatgg	15	5	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:54654435G>A	ENST00000230640.5	+	15	1822	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	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)	p.R523H(1)|p.R523P(1)		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)				ATGTCTGGTCGTGCTGGAAGG	0.323																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			2	Substitution - Missense(2)	p.R523H(1)|p.R523P(1)	lung(1)|endometrium(1)	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						c.(1567-1569)cGt>cAt		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							106	105	105					5																	54654435		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54654435G>A	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.1568G>A	5.37:g.54654435G>A	ENSP00000230640:p.Arg523His					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	p.R523H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			15	1822	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	523			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1568G>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477077	0.96291	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	D;D	0.99143	-5.48;-5.48	5.88	5.88	0.94601	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97305	0.9933	10	0.87932	D	0	-16.9694	20.2375	0.98362	0.0:0.0:1.0:0.0	.	422;523	F5H7E2;P42285	.;SK2L2_HUMAN	H	523;422	ENSP00000230640:R523H;ENSP00000442583:R422H	ENSP00000230640:R523H	R	+	2	0	SKIV2L2	54690192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.716000	0.98752	2.790000	0.95986	0.655000	0.94253	CGT		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			24	95	0	0	0	1	0	24	95					A	54654435	G	A	54654435	3	1	435	1	0	0	0	0	1	0	0	0	14360	1145	40	1	1626	1	SKIV2L2	5	54654435	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		54654435	126260825	15	37060											
WDR55	54853	broad.mit.edu	37	chr5	140048330	140048330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacatgaagagtacatcGcagacatggctctggatcca	11	10	1	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:140048330G>A	ENST00000358337.5	+	4	751	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	172					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)			AGAGTACATCGCAGACATGGC	0.542																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(514-516)Gca>Aca		WD repeat domain 55							56	54	55					5																	140048330		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048330G>A	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.514G>A	5.37:g.140048330G>A	ENSP00000351100:p.Ala172Thr						p.A172T	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	751	+			172					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.514G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558768	0.45590	.	.	ENSG00000120314	ENST00000358337	T	0.24908	1.83	5.24	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071793	0.08080	U	1.000000	T	0.12944	0.0314	N	0.11284	0.12	0.34264	D	0.680209	B;B	0.33777	0.066;0.425	B;B	0.28784	0.029;0.094	T	0.18713	-1.0328	10	0.21014	T	0.42	-6.7029	7.3786	0.26843	0.2575:0.0:0.7425:0.0	.	11;172	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	T	172	ENSP00000351100:A172T	ENSP00000351100:A172T	A	+	1	0	WDR55	140028514	1.000000	0.71417	0.595000	0.28798	0.920000	0.55202	5.563000	0.67352	1.203000	0.43233	0.467000	0.42956	GCA		0.542	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		26	81	0	0	0	1	0	26	81					A	140048330	G	A	140048330	3	1	435	1	0	0	0	0	1	0	0	0	17304	1087	38	1	528	1	WDR55	5	140048330	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	85393895	140048330	40866930	16	37061											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-													caaaagccgccttctgagccTtttgcctctgttgttcctcc							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	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)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				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						c.(3412-3414)agfs		transcriptional regulating factor 1							245	274	264					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	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.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	1111						7	1111	---	---	---	---	-	42196333	T	-	42196333	7	5	435	1	0	1	0	1	0	0	0	0	16472	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-S9-A6WN-01A-12D-A33T-08		42196333	128918734	17	37062											
ZNF318	24149	broad.mit.edu	37	chr6	43305258	43305261	+	Frame_Shift_Del	DEL	AATT	AATT	-													agatggcccaaggcctgcagAattaattgtttttaattcca							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:43305258_43305261delAATT	ENST00000361428.2	-	10	6552_6555	c.6475_6478delAATT	c.(6475-6480)aattctfs	p.NS2159fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2159					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)			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)			AGGCCTGCAGAATTAATTGTTTTT	0.446																																						ENST00000361428.2																			0				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						c.(6475-6480)ctfs		zinc finger protein 318																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305258_43305261delAATT	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.6475_6478delAATT	6.37:g.43305262_43305265delAATT	ENSP00000354964:p.Asn2159fs					ZNF318_ENST00000318149.3_Intron	p.NS2159fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6552_6555	-			2159					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.6475_6478delAATT	CCDS4895.2																																																																																				0.446	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		19	85						19	85	---	---	---	---	-	43305261	AATT	-	43305258	7	5	435	1	0	1	0	1	0	0	0	0	17833	246	9	0	365	0	ZNF318	6	43305258	Frame_Shift_Del	DEL	AATT	TCGA-S9-A6WN-01A-12D-A33T-08	1108925	43305258	127809809	18	37063											
THBS2	7058	broad.mit.edu	37	chr6	169622399	169622399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggagtagccataggcccGcgtgggctggtcctcccagt	15	14	0	0	rs141219768		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:169622399G>A	ENST00000366787.3	-	20	3415	c.3166C>T	c.(3166-3168)Cgg>Tgg	p.R1056W	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1056	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATAGGCCCGCGTGGGCTGG	0.632																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3166-3168)Cgg>Tgg		thrombospondin 2		G	TRP/ARG	4,4400	8.1+/-20.4	0,4,2198	52	46	48		3166	2.2	1	6	dbSNP_134	48	0,8600		0,0,4300	no	missense	THBS2	NM_003247.2	101	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	1056/1173	169622399	4,13000	2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622399G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3166C>T	6.37:g.169622399G>A	ENSP00000355751:p.Arg1056Trp					XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.R1056W	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3415	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1056			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3166C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871646	0.51695	9.08E-4	0.0	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.95788	-3.81	4.32	2.19	0.27852	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.39274	U	0.001414	D	0.95227	0.8452	M	0.77103	2.36	0.29163	N	0.877624	D	0.89917	1.0	D	0.70935	0.971	D	0.90299	0.4328	10	0.87932	D	0	-41.2224	5.6454	0.17586	0.0:0.2564:0.3913:0.3523	.	1056	P35442	TSP2_HUMAN	W	1056;314	ENSP00000355751:R1056W	ENSP00000355751:R1056W	R	-	1	2	THBS2	169364324	0.946000	0.32159	0.988000	0.46212	0.502000	0.33828	2.744000	0.47450	0.760000	0.33108	0.297000	0.19635	CGG		0.632	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		3	80	0	0	0	1	0	3	80					A	169622399	G	A	169622399	3	1	435	1	0	0	0	0	1	0	0	0	15851	1086	38	1	368	1	THBS2	6	169622399	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	126317141	169622399	1492668	19	37064											
EGFR	1956	broad.mit.edu	37	chr7	55260505	55260505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaattttacacagaatctAtacccaccagagtgatgtct	5	10	3	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:55260505A>G	ENST00000275493.2	+	22	2849	c.2672A>G	c.(2671-2673)tAt>tGt	p.Y891C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	891	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)	CACAGAATCTATACCCACCAG	0.428		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(2671-2673)tAt>tGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						131	117	122					7																	55260505		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55260505A>G		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.2672A>G	7.37:g.55260505A>G	ENSP00000275493:p.Tyr891Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C	p.Y891C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		22	2849	+	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)		891			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2672A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690466	0.48097	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68479	-0.33;-0.33;-0.33	5.9	5.9	0.94986	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	0.82536	0.5058	M	0.80616	2.505	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.84996	0.0897	10	0.87932	D	0	.	15.1436	0.72630	1.0:0.0:0.0:0.0	.	846;891	Q504U8;P00533	.;EGFR_HUMAN	C	846;761;891;838	ENSP00000415559:Y846C;ENSP00000275493:Y891C;ENSP00000395243:Y838C	ENSP00000275493:Y891C	Y	+	2	0	EGFR	55227999	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	4.769000	0.62300	2.248000	0.74166	0.459000	0.35465	TAT		0.428	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		26	99	0	0	0	1	0	26	99					G	55260505	A	G	55260505	3	3	435	1	0	0	0	0	1	0	0	0	4967	449	16	3	3022	3	EGFR	7	55260505	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		55260505	103878158	20	37065											
WBSCR22	114049	broad.mit.edu	37	chr7	73098135	73098135	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggaaatacgttcgcaaGtgaggggagcctgaatactg	14	9	0	2	rs111971609		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:73098135G>A	ENST00000265758.2	+	2	144		c.e2+1		WBSCR22_ENST00000423497.1_Splice_Site|DNAJC30_ENST00000395176.2_5'Flank|WBSCR22_ENST00000423166.2_Missense_Mutation_p.S20N|WBSCR22_ENST00000464615.1_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGTTCGCAAGTGAGGGGAGC	0.572																																						ENST00000423166.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13						c.(58-60)aGt>aAt		Williams Beuren syndrome chromosome region 22							66	76	73					7																	73098135		2203	4300	6503	SO:0001630	splice_region_variant	114049					nucleus	methyltransferase activity	g.chr7:73098135G>A	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"metastasis-related methyltransferase 1"	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.86+1G>A	7.37:g.73098135G>A						WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site	p.S20N			O43709	WBS22_HUMAN			2	106	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	0					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.59G>A	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795171|3.795171	0.70452|0.70452	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000265758;ENST00000423497|ENST00000423166	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57621	.|0.2066	.|.	.|.	.|.	0.32074|0.32074	N|N	0.593971|0.593971	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62497	.|-0.6842	.|4	.|.	.|.	.|.	.|1.0E-4	14.3144|14.3144	0.66437|0.66437	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|20	.|.	.|.	.|S	+|+	.|2	.|0	WBSCR22|WBSCR22	72736071|72736071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.618000|0.618000	0.37518|0.37518	7.318000|7.318000	0.79029|0.79029	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	.|AGT		0.572	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		Intron	6	275	0	0	0	1	0	6	275					A	73098135	G	A	73098135	5	1	435	1	0	0	0	0	0	0	1	0	17262	1043	36	2	93	2	WBSCR22	7	73098135	Splice_Site	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	17837630	73098135	86040528	21	37066											
CSMD3	114788	broad.mit.edu	37	chr8	113420579	113420579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaatcccttagctgttAttggtccaactgaagtaaat	8	7	0	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr8:113420579A>G	ENST00000297405.5	-	34	5817	c.5573T>C	c.(5572-5574)aTa>aCa	p.I1858T	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1858	CUB 10. {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						CTTAGCTGTTATTGGTCCAAC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(5572-5574)aTa>aCa		CUB and Sushi multiple domains 3							176	173	174					8																	113420579		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113420579A>G	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.5573T>C	8.37:g.113420579A>G	ENSP00000297405:p.Ile1858Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	p.I1858T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			34	5817	-			1858			CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5573T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545176	0.27652	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	T;T;T	0.59638	0.25;0.25;0.25	4.71	4.71	0.59529	CUB (5);	0.136721	0.49916	D	0.000122	T	0.42675	0.1213	N	0.16201	0.385	0.80722	D	1	B;B;B	0.28783	0.222;0.123;0.001	B;B;B	0.32624	0.149;0.102;0.004	T	0.36407	-0.9749	10	0.30854	T	0.27	.	14.6511	0.68797	1.0:0.0:0.0:0.0	.	1754;1858;1818	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	1818;1858;1754	ENSP00000345799:I1818T;ENSP00000297405:I1858T;ENSP00000412263:I1754T	ENSP00000297405:I1858T	I	-	2	0	CSMD3	113489755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.686000	0.61700	2.103000	0.63969	0.482000	0.46254	ATA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		62	203	0	0	0	1	0	62	203					G	113420579	A	G	113420579	3	3	435	1	0	0	0	0	1	0	0	0	3946	449	16	3	5702	3	CSMD3	8	113420579	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		113420579	32943443	22	37067											
LINGO2	158038	broad.mit.edu	37	chr9	27949432	27949432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctgcaacttcttttcaCggattttgggttttttgcag	10	7	2	0	rs201950549		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:27949432C>T	ENST00000379992.2	-	6	1687	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.R413H(2)		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)		CTTCTTTTCACGGATTTTGGG	0.488																																						ENST00000379992.2																			2	Substitution - Missense(2)	p.R413H(2)	large_intestine(2)	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						c.(1237-1239)cGt>cAt		leucine rich repeat and Ig domain containing 2		C	HIS/ARG	0,4406		0,0,2203	99	93	95		1238	6.2	1	9		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	LINGO2	NM_152570.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	413/607	27949432	1,13005	2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949432C>T	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.1238G>A	9.37:g.27949432C>T	ENSP00000369328:p.Arg413His					LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		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)	6	1687	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	413			Ig-like C2-type.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1238G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671219	0.29693	0.0	1.16E-4	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.96011	-3.88;-3.88	6.16	6.16	0.99307	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058147	0.64402	D	0.000001	D	0.91310	0.7260	L	0.38175	1.15	0.58432	D	0.999994	B	0.13145	0.007	B	0.08055	0.003	D	0.85491	0.1185	9	.	.	.	.	11.6865	0.51490	0.0:0.8957:0.0:0.1043	.	413	Q7L985	LIGO2_HUMAN	H	413	ENSP00000369328:R413H;ENSP00000310126:R413H	.	R	-	2	0	LINGO2	27939432	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.024000	0.57218	2.937000	0.99478	0.650000	0.86243	CGT		0.488	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		41	156	0	0	0	1	0	41	156					T	27949432	C	T	27949432	3	4	435	1	0	0	0	0	1	0	0	0	8815	536	19	1	586	1	LINGO2	9	27949432	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08		27949432	113263999	23	37068											
KIAA1529	100499483	broad.mit.edu	37	chr9	100056345	100056345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatgtggctgattgcccGcatcgacaggaccatcatgc	12	13	1	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:100056345G>A	ENST00000357054.1	+	13	1138	c.203G>A	c.(202-204)cGc>cAc	p.R68H	CCDC180_ENST00000395220.1_Missense_Mutation_p.R68H|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.4_ENST00000534123.1_RNA|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.R108H|CCDC180_ENST00000375202.2_5'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	68						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGATTGCCCGCATCGACAGG	0.572																																						ENST00000357054.1																			0											c.(202-204)cGc>cAc		coiled-coil domain containing 180							106	94	98					9																	100056345		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100056345G>A	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.203G>A	9.37:g.100056345G>A	ENSP00000349562:p.Arg68His					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.R68H|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.R108H	p.R68H							13	1138	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.203G>A		.	.	.	.	.	.	.	.	.	.	G	14.04	2.417259	0.42918	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.84298	-1.83;-1.83;-1.83	5.49	3.68	0.42216	.	.	.	.	.	T	0.77363	0.4119	.	.	.	0.80722	D	1	P;P	0.38420	0.63;0.489	B;B	0.29663	0.105;0.105	T	0.75536	-0.3283	8	0.46703	T	0.11	.	13.4031	0.60893	0.0861:0.0:0.9139:0.0	.	68;68	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	108;68;68	ENSP00000364351:R108H;ENSP00000349562:R68H;ENSP00000378646:R68H	ENSP00000349562:R68H	R	+	2	0	C9orf174	99096166	1.000000	0.71417	0.984000	0.44739	0.401000	0.30781	5.212000	0.65225	0.833000	0.34828	-0.710000	0.03640	CGC		0.572	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	157	0	0	0	1	0	4	157					A	100056345	G	A	100056345	3	1	435	1	0	0	0	0	1	0	0	0	8240	1087	38	1	209	1	KIAA1529	9	100056345	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	72106913	100056345	41157086	24	37069											
FCN1	2219	broad.mit.edu	37	chr9	137809638	137809638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgtgtccgcagcctggGcaggcaggttcttgatatgc	14	10	1	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:137809638G>A	ENST00000371806.3	-	1	171	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	27					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGCAGCCTGGGCAGGCAGGTT	0.582																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(79-81)gCc>gTc		ficolin (collagen/fibrinogen domain containing) 1							87	81	83					9																	137809638		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809638G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.80C>T	9.37:g.137809638G>A	ENSP00000360871:p.Ala27Val						p.A27V	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	171	-		Myeloproliferative disorder(178;0.0333)	27					Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.80C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337701	0.41398	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82893	-1.66	4.14	0.331	0.15933	.	.	.	.	.	T	0.72867	0.3514	L	0.48362	1.52	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.54125	-0.8340	9	0.16896	T	0.51	.	7.0234	0.24926	0.4337:0.0:0.5663:0.0	.	27	O00602	FCN1_HUMAN	V	27	ENSP00000360871:A27V	ENSP00000308877:A27V	A	-	2	0	FCN1	136949459	0.034000	0.19679	0.022000	0.16811	0.741000	0.42261	0.064000	0.14437	0.105000	0.17753	0.579000	0.79373	GCC		0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		32	88	0	0	0	1	0	32	88					A	137809638	G	A	137809638	3	1	435	1	0	0	0	0	1	0	0	0	5791	1203	42	2	936	2	FCN1	9	137809638	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	37753293	137809638	3403793	25	37070											
ENTPD7	57089	broad.mit.edu	37	chr10	101458364	101458364	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctgccagtgggactcacaGatgtggtggagaggaacagc	16	9	1	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr10:101458364G>A	ENST00000370489.4	+	10	1262	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	362						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGGACTCACAGATGTGGTGGA	0.537																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1084-1086)Gat>Aat		ectonucleoside triphosphate diphosphohydrolase 7							105	94	98					10																	101458364		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101458364G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1084G>A	10.37:g.101458364G>A	ENSP00000359520:p.Asp362Asn						p.D362N	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	10	1262	+		Colorectal(252;0.234)	362					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1084G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181217	0.78677	.	.	ENSG00000198018	ENST00000370489	T	0.11063	2.81	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	M	0.76838	2.35	0.54753	D	0.999985	D	0.67145	0.996	D	0.66497	0.944	T	0.05289	-1.0894	10	0.18710	T	0.47	-20.0169	17.9903	0.89166	0.0:0.0:1.0:0.0	.	362	Q9NQZ7	ENTP7_HUMAN	N	362	ENSP00000359520:D362N	ENSP00000359520:D362N	D	+	1	0	ENTPD7	101448354	1.000000	0.71417	0.971000	0.41717	0.951000	0.60555	9.552000	0.98115	2.583000	0.87209	0.655000	0.94253	GAT		0.537	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		26	105	0	0	0	1	0	26	105					A	101458364	G	A	101458364	3	1	435	1	0	0	0	0	1	0	0	0	5144	942	33	2	1118	2	ENTPD7	10	101458364	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		101458364	34076383	26	37071											
OR9Q1	219956	broad.mit.edu	37	chr11	57947730	57947730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcttcggagaagaatcggGtagtgtctgtgctttacaca	12	7	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:57947730G>T	ENST00000335397.3	+	3	1130	c.814G>T	c.(814-816)Gta>Tta	p.V272L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	272						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(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGAATCGGGTAGTGTCTGT	0.488																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(814-816)Gta>Tta		olfactory receptor, family 9, subfamily Q, member 1							142	118	126					11																	57947730		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947730G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.814G>T	11.37:g.57947730G>T	ENSP00000334934:p.Val272Leu						p.V272L	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	1130	+		Breast(21;0.222)	272					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.814G>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391665	0.25118	.	.	ENSG00000186509	ENST00000335397	T	0.00249	8.44	4.67	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000886	T	0.00210	0.0006	L	0.33668	1.02	0.09310	N	0.999999	D	0.53619	0.961	P	0.53401	0.725	T	0.54091	-0.8345	10	0.59425	D	0.04	-19.2123	7.1463	0.25585	0.0842:0.0:0.6408:0.275	.	272	Q8NGQ5	OR9Q1_HUMAN	L	272	ENSP00000334934:V272L	ENSP00000334934:V272L	V	+	1	0	OR9Q1	57704306	0.000000	0.05858	0.767000	0.31495	0.007000	0.05969	0.095000	0.15127	1.320000	0.45209	0.484000	0.47621	GTA		0.488	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		47	156	1	0	1.56793e-16	1	1.69042e-16	47	156					T	57947730	G	T	57947730	3	4	435	1	0	0	0	0	1	0	0	0	11255	1261	44	4	816	4	OR9Q1	11	57947730	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		57947730	77058786	27	37072											
RAD9A	5883	broad.mit.edu	37	chr11	67159688	67159688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggacgagctctacctggaaCccttggaggacggggtgagg	18	9	1	1	rs543611523	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:67159688C>A	ENST00000307980.2	+	2	184	c.91C>A	c.(91-93)Ccc>Acc	p.P31T	RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	31					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CTACCTGGAACCCTTGGAGGA	0.701								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(91-93)Ccc>Acc	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							13	16	15					11																	67159688		2189	4288	6477	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67159688C>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"RAD9 (S. pombe) homolog"	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.91C>A	11.37:g.67159688C>A	ENSP00000311360:p.Pro31Thr						p.P31T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		2	184	+			31					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.91C>A	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682183	0.88542	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.16743	2.32;2.32	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.73598	2.24	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.09862	-1.0655	10	0.22109	T	0.4	-26.6867	11.4106	0.49923	0.0:1.0:0.0:0.0	.	31	Q99638	RAD9A_HUMAN	T	31	ENSP00000311360:P31T;ENSP00000444979:P31T	ENSP00000311360:P31T	P	+	1	0	RAD9A	66916264	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.269000	0.65542	2.128000	0.65567	0.462000	0.41574	CCC		0.701	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		9	27	1	0	0.000274275	1	0.000282462	9	27					A	67159688	C	A	67159688	3	1	435	1	0	0	0	0	1	0	0	0	12995	507	18	4	97	4	RAD9A	11	67159688	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	9211958	67159688	67846828	28	37073											
HTR3A	3359	broad.mit.edu	37	chr11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcaacatctctttgtggCgcttgccagaaaaggtgaaa	9	9	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					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)	p.R191G(1)		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)	CTCTTTGTGGCGCTTGCCAGA	0.527																																						ENST00000504030.2																			1	Substitution - Missense(1)	p.R191G(1)	central_nervous_system(1)	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						c.(571-573)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						195	205	202					11																	113856763		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856763C>T	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.571C>T	11.37:g.113856763C>T	ENSP00000424189:p.Arg191Cys					HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C	p.R191C			P46098	5HT3A_HUMAN		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)	6	1016	+		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)	191					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.571C>T		.	.	.	.	.	.	.	.	.	.	C	15.83	2.948095	0.53186	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	M	0.62209	1.925	0.80722	D	1	P;D;P	0.69078	0.928;0.997;0.928	P;P;P	0.59056	0.565;0.851;0.565	D	0.86792	0.1986	10	0.66056	D	0.02	-14.1102	13.5593	0.61779	0.1557:0.8443:0.0:0.0	.	176;197;197	B4DSY6;G5E986;Q7KZM7	.;.;.	C	191;197;197;191;176	ENSP00000424189:R191C;ENSP00000347754:R197C;ENSP00000364648:R197C;ENSP00000424776:R191C;ENSP00000299961:R176C	ENSP00000299961:R176C	R	+	1	0	HTR3A	113361973	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	2.731000	0.47343	2.457000	0.83068	0.655000	0.94253	CGC		0.527	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		108	373	0	0	0	1	0	108	373					T	113856763	C	T	113856763	3	4	435	1	0	0	0	0	1	0	0	0	7444	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	46697075	113856763	21149753	29	37074											
TMEM225	338661	broad.mit.edu	37	chr11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaagactacggcccaggagGagaaaagtatgttcataccc	10	9	1	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	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																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(49-51)tCc>tTc		transmembrane protein 225							101	93	95					11																	123756083		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123756083G>A	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						p.S17F	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			1	266	-			17						Missense_Mutation	SNP	ENST00000375026.2	37	c.50C>T	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	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		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		34	133	0	0	0	1	0	34	133					A	123756083	G	A	123756083	3	1	435	1	0	0	0	0	1	0	0	0	16144	1174	41	2	643	2	TMEM225	11	123756083	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	9899320	123756083	11250433	30	37075											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-													ccattatttcttccataccaTtttttttcttgccgaaaaat							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138	135	136					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	200						7	200	---	---	---	---	-	21028267	T	-	21028267	7	5	435	1	0	1	0	1	0	0	0	0	14724	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-S9-A6WN-01A-12D-A33T-08		21028267	112823628	31	37076											
MBD6	114785	broad.mit.edu	37	chr12	57921956	57921957	+	Frame_Shift_Del	DEL	CT	CT	-													ccagagcagccagaagccccCtgtctaccccccgagagccc							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:57921956_57921957delCT	ENST00000355673.3	+	10	2789_2790	c.2433_2434delCT	c.(2431-2436)ccctgtfs	p.C812fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.C812fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	812	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						CAGAAGCCCCCTGTCTACCCCC	0.574																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2431-2436)ccgtfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921956_57921957delCT	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.2433_2434delCT	12.37:g.57921956_57921957delCT	ENSP00000347896:p.Cys812fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.PC811fs	p.PC811fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			10	2789_2790	+			811			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.2433_2434delCT	CCDS8944.1																																																																																				0.574	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			25	115						25	115	---	---	---	---	-	57921957	CT	-	57921956	7	5	435	1	0	1	0	1	0	0	0	0	9348	668	24	0	2463	0	MBD6	12	57921956	Frame_Shift_Del	DEL	CT	TCGA-S9-A6WN-01A-12D-A33T-08	36893689	57921956	75929939	32	37077											
UBC	7316	broad.mit.edu	37	chr12	125397663	125397663	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagacggagtaccaggtgcaAggtggactctttctggatgt	15	7	2	1	rs564512257	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:125397663A>G	ENST00000536769.1	-	1	2231	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L	UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	219	Ubiquitin-like 3. {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)		ACCAGGTGCAAGGTGGACTCT	0.517													-|||	2	0.000399361	0.0	0.0	5008	,	,		27802	0.001		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				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						c.(655-657)Ttg>Ctg		ubiquitin C							207	183	191					12																	125397663		2203	4298	6501	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397663A>G		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		ENST00000536769.1:c.655T>C	12.37:g.125397663A>G						UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L|UBC_ENST00000538617.1_Intron	p.L219L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2231	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		219			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.655T>C	CCDS9260.1																																																																																				0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		8	188	0	0	0	1	0	8	188					G	125397663	A	G	125397663	2	3	435	1	0	0	0	0	0	0	0	1	16839	69	3	3		3	UBC	12	125397663	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	67475707	125397663	8454232	33	37078											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017320	33017320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatccatagtttcaggtgGaggtgaaaaatcttcatttc	9	6	3	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:33017320G>A	ENST00000504114.1	-	6	1400	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.P437S|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCAGGTGGAGGTGAAAAA	0.373																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1309-1311)Cca>Tca		NEDD4 binding protein 2-like 2							58	54	56					13																	33017320		1869	4106	5975	SO:0001583	missense	10443							g.chr13:33017320G>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1309C>T	13.37:g.33017320G>A	ENSP00000427477:p.Pro437Ser					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P437S|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S|N4BP2L2_ENST00000380121.3_5'UTR	p.P437S	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1413	-		Lung SC(185;0.0262)	108					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1309C>T		.	.	.	.	.	.	.	.	.	.	G	5.466	0.270974	0.10349	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.5	-2.5	0.06384	.	1.357460	0.04617	N	0.401353	T	0.21103	0.0508	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.33637	0.11;0.11;0.42;0.264	B;B;B;B	0.29077	0.055;0.055;0.098;0.055	T	0.09640	-1.0665	9	0.27082	T	0.32	0.0919	0.1554	0.00097	0.299:0.1606:0.2639:0.2766	.	437;452;335;335	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	S	335;364;437;437;452	.	ENSP00000350104:P437S	P	-	1	0	N4BP2L2;RP11-298P3.4	31915320	0.000000	0.05858	0.000000	0.03702	0.827000	0.46813	0.200000	0.17257	-0.502000	0.06596	-0.142000	0.14014	CCA		0.373	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		20	73	0	0	0	1	0	20	73					A	33017320	G	A	33017320	3	1	435	1	0	0	0	0	1	0	0	0	10112	1174	41	2	916	2	N4BP2L2	13	33017320	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		33017320	82152558	34	37079											
SPERT	220082	broad.mit.edu	37	chr13	46276937	46276937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaattatacaagaaaaAgagataccagatctgaaagc	8	7	1	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:46276937A>G	ENST00000310521.1	+	2	183	c.103A>G	c.(103-105)Aga>Gga	p.R35G	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	35						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TACAAGAAAAAGAGATACCAG	0.423																																						ENST00000310521.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(103-105)Aga>Gga		spermatid associated							62	63	62					13																	46276937		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276937A>G	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.103A>G	13.37:g.46276937A>G	ENSP00000309189:p.Arg35Gly						p.R35G	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	183	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	35					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.103A>G	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663930	0.29604	.	.	ENSG00000174015	ENST00000310521	T	0.50548	0.74	4.46	2.08	0.27032	.	0.357835	0.21105	N	0.080097	T	0.37999	0.1024	L	0.36672	1.1	0.80722	D	1	P	0.40731	0.728	P	0.44359	0.447	T	0.19811	-1.0294	10	0.87932	D	0	.	4.4513	0.11621	0.6667:0.2281:0.1052:0.0	.	35	Q8NA61	SPERT_HUMAN	G	35	ENSP00000309189:R35G	ENSP00000309189:R35G	R	+	1	2	SPERT	45174938	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	0.756000	0.26419	0.474000	0.27392	0.533000	0.62120	AGA		0.423	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		4	151	0	0	0	1	0	4	151					G	46276937	A	G	46276937	3	3	435	1	0	0	0	0	1	0	0	0	15038	64	3	3	109	3	SPERT	13	46276937	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	13259617	46276937	68892941	35	37080											
CKAP2	26586	broad.mit.edu	37	chr13	53035286	53035286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaccttcaaatgaactaAccaattcaactgtagtaatt	3	8	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:53035286A>G	ENST00000378037.5	+	4	418	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A|CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A	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)		AAATGAACTAACCAATTCAAC	0.358																																						ENST00000378037.5																			0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(328-330)Acc>Gcc		cytoskeleton associated protein 2							88	94	92					13																	53035286		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035286A>G	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.328A>G	13.37:g.53035286A>G	ENSP00000367276:p.Thr110Ala					CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A	p.T110A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	418	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	110						Missense_Mutation	SNP	ENST00000378037.5	37	c.328A>G	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.748221	0.30955	.	.	ENSG00000136108	ENST00000398044;ENST00000468284;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903;ENST00000480747	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.45	1.56	0.23342	.	0.566563	0.18090	N	0.152001	T	0.29850	0.0746	L	0.50333	1.59	0.24273	N	0.995232	B;B;B;B	0.24043	0.037;0.037;0.096;0.037	B;B;B;B	0.25614	0.024;0.024;0.062;0.039	T	0.21449	-1.0245	10	0.49607	T	0.09	-0.0173	7.3576	0.26727	0.7405:0.0:0.2595:0.0	.	61;110;109;110	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	A	110;27;109;109;110;61;62	ENSP00000418431:T27A;ENSP00000258607:T109A;ENSP00000367273:T109A;ENSP00000367276:T110A;ENSP00000417830:T61A;ENSP00000418224:T62A	ENSP00000258607:T109A	T	+	1	0	CKAP2	51933287	0.075000	0.21258	0.724000	0.30704	0.878000	0.50629	0.672000	0.25187	0.044000	0.15775	-0.290000	0.09829	ACC		0.358	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			8	202	0	0	0	1	0	8	202					G	53035286	A	G	53035286	3	3	435	1	0	0	0	0	1	0	0	0	3442	43	2	3	342	3	CKAP2	13	53035286	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	6758349	53035286	62134592	36	37081											
FITM1	161247	broad.mit.edu	37	chr14	24600895	24600895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtactttggaagcgaAcaggccgcccgccttctggg	13	12	1	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:24600895A>G	ENST00000267426.5	+	1	412	c.123A>G	c.(121-123)gaA>gaG	p.E41E	FITM1_ENST00000559294.1_5'Flank|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.T229A	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	41					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						TTGGAAGCGAACAGGCCGCCC	0.657																																						ENST00000558325.1																			0											c.(685-687)Aca>Gca									44	47	46					14																	24600895		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:24600895A>G		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.123A>G	14.37:g.24600895A>G						FITM1_ENST00000267426.5_Silent_p.E41E	p.229_229insA							3	685	+								Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.685A>G	CCDS9611.1																																																																																				0.657	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		24	77	0	0	0	1	0	24	77					G	24600895	A	G	24600895	2	3	435	1	0	0	0	0	0	0	0	1	5898	40	2	3		3	FITM1	14	24600895	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		24600895	82748645	37	37082											
CGRRF1	10668	broad.mit.edu	37	chr14	54989229	54989229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacccagttcagcacAagagttttcaaaaagcaaat	8	8	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:54989229A>G	ENST00000216420.7	+	2	294	c.162A>G	c.(160-162)acA>acG	p.T54T	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	54					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AGTTCAGCACAAGAGTTTTCA	0.338																																						ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(160-162)acA>acG		cell growth regulator with ring finger domain 1							88	86	87					14																	54989229		2203	4300	6503	SO:0001819	synonymous_variant	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:54989229A>G	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"RING-type (C3HC4) zinc fingers"	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.162A>G	14.37:g.54989229A>G						CGRRF1_ENST00000557512.1_3'UTR	p.T54T	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			2	294	+			54					Q96BX2	Silent	SNP	ENST00000216420.7	37	c.162A>G	CCDS9719.1																																																																																				0.338	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		5	170	0	0	0	1	0	5	170					G	54989229	A	G	54989229	2	3	435	1	0	0	0	0	0	0	0	1	3306	117	5	3		3	CGRRF1	14	54989229	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	30388334	54989229	52360311	38	37083											
C14orf45	80127	broad.mit.edu	37	chr14	74516767	74516767	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcattataagcagatagcAcaagctgctttcaatttaaa	6	7	1	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:74516767A>G	ENST00000394009.3	+	8	1278	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.A110A	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	385					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AGCAGATAGCACAAGCTGCTT	0.398																																						ENST00000394009.3																			0											c.(1153-1155)gcA>gcG		coiled-coil domain containing 176							75	74	74					14																	74516767		2203	4300	6503	SO:0001819	synonymous_variant	80127							g.chr14:74516767A>G	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 45"	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1155A>G	14.37:g.74516767A>G						CCDC176_ENST00000553773.1_Silent_p.A110A|AC005484.5_ENST00000492026.1_RNA	p.A385A	NM_025057.2	NP_079333.2					8	1278	+								Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.1155A>G	CCDS32119.2																																																																																				0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		30	116	0	0	0	1	0	30	116					G	74516767	A	G	74516767	2	3	435	1	0	0	0	0	0	0	0	1	1775	146	6	3		3	C14orf45	14	74516767	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	19527538	74516767	32832773	39	37084											
PPP1R14D	54866	broad.mit.edu	37	chr15	41120653	41120653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgctggagctggccccGgtcatacttcactgtcaggc	12	15	3	0	rs373800458		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:41120653G>A	ENST00000299174.5	-	1	254	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.R63W(1)		breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCTGGCCCCGGTCATACTTC	0.592																																						ENST00000299174.5																			1	Substitution - Missense(1)	p.R63W(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(187-189)Cgg>Tgg		protein phosphatase 1, regulatory (inhibitor) subunit 14D		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	73	74	73		187,187	2.6	1	15		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PPP1R14D	NM_001130143.1,NM_017726.7	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	63/201,63/146	41120653	1,13005	2203	4300	6503	SO:0001583	missense	54866				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr15:41120653G>A	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14953	protein-coding gene	gene with protein product	"gut and brain phosphatase inhibitor 1", "PKC-dependent PP1 inhibitory protein"	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.187C>T	15.37:g.41120653G>A	ENSP00000299174:p.Arg63Trp					PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	254	-		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	63					Q4V773	Missense_Mutation	SNP	ENST00000299174.5	37	c.187C>T	CCDS10066.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262650	0.59431	0.0	1.16E-4	ENSG00000166143	ENST00000299174;ENST00000427255	.	.	.	5.58	2.64	0.31445	.	0.462653	0.18342	N	0.144154	T	0.69593	0.3128	M	0.79614	2.46	0.38874	D	0.956754	B;D	0.76494	0.155;0.999	B;D	0.63033	0.019;0.91	T	0.69343	-0.5170	9	0.87932	D	0	-6.0977	6.5831	0.22607	0.0832:0.0:0.5977:0.3191	.	63;63	E9PAT1;Q9NXH3	.;PP14D_HUMAN	W	63	.	ENSP00000299174:R63W	R	-	1	2	PPP1R14D	38907945	0.989000	0.36119	0.990000	0.47175	0.763000	0.43281	2.213000	0.42844	0.310000	0.22990	-0.913000	0.02753	CGG		0.592	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726		37	135	0	0	0	1	0	37	135					A	41120653	G	A	41120653	3	1	435	1	0	0	0	0	1	0	0	0	12362	1115	39	1	435	1	PPP1R14D	15	41120653	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		41120653	61410739	40	37085											
GOLGA6D	653643	broad.mit.edu	37	chr15	75580621	75580621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtccaaggatctggctggCcgcctgcaatactccttaca	10	13	1	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:75580621C>T	ENST00000434739.3	+	7	521	c.480C>T	c.(478-480)ggC>ggT	p.G160G		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	160						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						ATCTGGCTGGCCGCCTGCAAT	0.527																																						ENST00000434739.3																			0				kidney(1)|lung(1)	2						c.(478-480)ggC>ggT		golgin A6 family, member D							14	15	14					15																	75580621		638	1553	2191	SO:0001819	synonymous_variant	653643							g.chr15:75580621C>T		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.480C>T	15.37:g.75580621C>T							p.G160G	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN			7	521	+			160						Silent	SNP	ENST00000434739.3	37	c.480C>T	CCDS45308.1																																																																																				0.527	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		5	327	0	0	0	1	0	5	327					T	75580621	C	T	75580621	2	4	435	1	0	0	0	0	0	0	0	1	6560	726	26	2		2	GOLGA6D	15	75580621	Silent	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	34459968	75580621	26950771	41	37086											
PLCG2	5336	broad.mit.edu	37	chr16	81990347	81990347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgccagctgaggaggcgGcaagaagaactgaacaacca	13	10	0	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr16:81990347G>A	ENST00000359376.3	+	32	3832	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1206					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R1206R(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAGGAGGCGGCAAGAAGAAC	0.512																																						ENST00000359376.3																			1	Substitution - coding silent(1)	p.R1206R(1)	endometrium(1)	NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3616-3618)cgG>cgA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							80	83	82					16																	81990347		2003	4164	6167	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81990347G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3618G>A	16.37:g.81990347G>A							p.R1206R	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			32	3832	+			1206					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.3618G>A	CCDS42204.1																																																																																				0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	119	0	0	0	1	0	5	119					A	81990347	G	A	81990347	2	1	435	1	0	0	0	0	0	0	0	1	12036	1190	42	2		2	PLCG2	16	81990347	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		81990347	8364406	42	37087											
INPP5K	51763	broad.mit.edu	37	chr17	1401275	1401275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtggtcgctgatgccGtacgtcatgtggctgctgta	15	9	1	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:1401275G>A	ENST00000421807.2	-	8	1306	c.918C>T	c.(916-918)taC>taT	p.Y306Y	INPP5K_ENST00000406424.4_Silent_p.Y230Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	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						CGCTGATGCCGTACGTCATGT	0.607																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(688-690)taC>taT		inositol polyphosphate-5-phosphatase K							153	135	141					17																	1401275		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1401275G>A		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.918C>T	17.37:g.1401275G>A						INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	p.Y230Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			10	1550	-			306			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.690C>T	CCDS11004.1																																																																																				0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			5	367	0	0	0	1	0	5	367					A	1401275	G	A	1401275	2	1	435	1	0	0	0	0	0	0	0	1	7760	1140	40	1		1	INPP5K	17	1401275	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		1401275	79793935	43	37088											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	12	13	0	2	rs201259366		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123	114	117					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His					EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	p.R261H	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		6	229	0	0	0	1	0	6	229					A	74077738	G	A	74077738	3	1	435	1	0	0	0	0	1	0	0	0	17507	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	72676463	74077738	7117472	44	37089											
UNC13A	23025	broad.mit.edu	37	chr19	17785503	17785503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgggctggctgccccGcaccgcgatggtcgtgctct	14	16	1	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:17785503G>A	ENST00000519716.2	-	3	114	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R127W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	39	C2 1. {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						TGGCTGCCCCGCACCGCGATG	0.602																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(379-381)Cgg>Tgg		unc-13 homolog A (C. elegans)							98	100	99					19																	17785503		2110	4235	6345	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17785503G>A	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.115C>T	19.37:g.17785503G>A	ENSP00000429562:p.Arg39Trp					UNC13A_ENST00000519716.2_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W	p.R127W			Q9UPW8	UN13A_HUMAN			4	378	-			39					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.379C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355936	0.82243	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.93	3.86	0.44501	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.77363	0.4119	L	0.60455	1.87	0.46096	D	0.998865	D	0.89917	1.0	D	0.87578	0.998	T	0.78823	-0.2052	10	0.87932	D	0	-16.3763	12.1029	0.53794	0.0:0.0:0.8265:0.1735	.	39	Q9UPW8	UN13A_HUMAN	W	39;127;39;39;39;39	ENSP00000429562:R39W;ENSP00000400409:R127W;ENSP00000252773:R39W;ENSP00000447236:R39W;ENSP00000447572:R39W;ENSP00000446831:R39W	ENSP00000252773:R39W	R	-	1	2	UNC13A	17646503	1.000000	0.71417	0.815000	0.32552	0.976000	0.68499	4.642000	0.61383	1.029000	0.39812	0.313000	0.20887	CGG		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	163	0	0	0	1	0	5	163					A	17785503	G	A	17785503	3	1	435	1	0	0	0	0	1	0	0	0	16981	1086	38	1	5156	1	UNC13A	19	17785503	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		17785503	41343480	45	37090											
ARRDC2	27106	broad.mit.edu	37	chr19	18119539	18119539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataccggggagaccacgacGctgcctcctgggcgccatga	14	14	0	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:18119539G>A	ENST00000222250.4	+	2	437	c.294G>A	c.(292-294)acG>acA	p.T98T	ARRDC2_ENST00000379656.3_Silent_p.T93T|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	98					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGACCACGACGCTGCCTCCTG	0.642																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(292-294)acG>acA		arrestin domain containing 2							68	70	69					19																	18119539		2203	4300	6503	SO:0001819	synonymous_variant	27106							g.chr19:18119539G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.294G>A	19.37:g.18119539G>A						ARRDC2_ENST00000379656.2_Silent_p.T93T|ARRDC2_ENST00000595712.1_3'UTR	p.T98T	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			2	437	+			98					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.294G>A	CCDS12370.1																																																																																				0.642	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		30	114	0	0	0	1	0	30	114					A	18119539	G	A	18119539	2	1	435	1	0	0	0	0	0	0	0	1	983	1074	38	1		1	ARRDC2	19	18119539	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	334036	18119539	41009444	46	37091											
C19orf61	56006	broad.mit.edu	37	chr19	44248978	44248978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacatgaccatggacttgCctgtcccctggaggcccagg	12	13	0	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:44248978C>T	ENST00000270066.6	-	6	989	c.647G>A	c.(646-648)gGc>gAc	p.G216D	SMG9_ENST00000601170.1_Missense_Mutation_p.G216D	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	216					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CATGGACTTGCCTGTCCCCTG	0.537											OREG0025533	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000601170.1																			0				kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						c.(646-648)gGc>gAc		SMG9 nonsense mediated mRNA decay factor							167	125	139					19																	44248978		2203	4300	6503	SO:0001583	missense	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44248978C>T	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"chromosome 19 open reading frame 61", "smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.647G>A	19.37:g.44248978C>T	ENSP00000270066:p.Gly216Asp		OREG0025533	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SMG9_ENST00000270066.6_Missense_Mutation_p.G216D	p.G216D			Q9H0W8	SMG9_HUMAN			6	961	-			216					O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	c.647G>A	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848503	0.91277	.	.	ENSG00000105771	ENST00000270066	T	0.61040	0.14	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84873	0.0826	10	0.87932	D	0	0.6242	16.3438	0.83116	0.0:1.0:0.0:0.0	.	216;216	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	D	216	ENSP00000270066:G216D	ENSP00000270066:G216D	G	-	2	0	SMG9	48940818	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.799000	0.75160	2.469000	0.83416	0.455000	0.32223	GGC		0.537	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		4	79	0	0	0	1	0	4	79					T	44248978	C	T	44248978	3	4	435	1	0	0	0	0	1	0	0	0	1943	739	26	2	951	2	C19orf61	19	44248978	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	26129439	44248978	14880005	47	37092											
MXRA5	25878	broad.mit.edu	37	chrX	3240986	3240986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttcataaggctcagataTaagtgtaggggctgctgtcc	13	7	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:3240986T>C	ENST00000217939.6	-	5	2894	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	914						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)				GGCTCAGATATAAGTGTAGGG	0.498																																						ENST00000217939.6																			0				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						c.(2740-2742)Ata>Gta		matrix-remodelling associated 5							98	81	87					X																	3240986		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240986T>C	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.2740A>G	X.37:g.3240986T>C	ENSP00000217939:p.Ile914Val						p.I914V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2894	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	914					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2740A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.466518	0.01053	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61627	0.09	3.33	-2.65	0.06095	.	2.683550	0.01853	N	0.036052	T	0.31918	0.0812	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11155	-1.0599	10	0.12430	T	0.62	.	4.2967	0.10904	0.0:0.2921:0.1652:0.5427	.	914	Q9NR99	MXRA5_HUMAN	V	914	ENSP00000217939:I914V	ENSP00000217939:I914V	I	-	1	0	MXRA5	3250986	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.563000	0.05943	-0.993000	0.03467	0.430000	0.28490	ATA		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		7	184	0	0	0	1	0	7	184					C	3240986	T	C	3240986	3	2	435	1	0	0	0	0	1	0	0	0	10003	1406	49	3	5758	3	MXRA5	23	3240986	Missense_Mutation	SNP	T	TCGA-S9-A6WN-01A-12D-A33T-08		3240986	152029574	48	37093											
FTSJ1	24140	broad.mit.edu	37	chrX	48337016	48337016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccacaggggccaagggtCcggccacgtggtggctgtgg	18	11	0	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:48337016C>T	ENST00000348411.2	+	4	526	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FTSJ1_ENST00000019019.2_Missense_Mutation_p.S68F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCAAGGGTCCGGCCACGTG	0.657																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(202-204)tCc>tTc		FtsJ RNA methyltransferase homolog 1 (E. coli)							37	30	32					X																	48337016		2203	4298	6501	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48337016C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.203C>T	X.37:g.48337016C>T	ENSP00000326948:p.Ser68Phe					FTSJ1_ENST00000348411.2_Missense_Mutation_p.S68F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F	p.S68F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			5	632	+			68						Missense_Mutation	SNP	ENST00000348411.2	37	c.203C>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	c	12.02	1.813646	0.32053	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.46819	0.86;0.86;0.86	4.23	3.35	0.38373	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.940557	0.09003	N	0.862658	T	0.54695	0.1874	M	0.69185	2.1	0.09310	N	0.999998	B;P;B	0.37061	0.102;0.58;0.064	B;B;B	0.43916	0.319;0.402;0.436	T	0.48592	-0.9022	10	0.59425	D	0.04	.	10.4951	0.44772	0.0:0.627:0.373:0.0	.	68;68;68	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	68	ENSP00000019019:S68F;ENSP00000326948:S68F;ENSP00000415457:S68F	ENSP00000019019:S68F	S	+	2	0	FTSJ1	48221960	0.000000	0.05858	0.002000	0.10522	0.414000	0.31173	0.800000	0.27042	0.887000	0.36136	-0.480000	0.04831	TCC		0.657	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			11	41	0	0	0	1	0	11	41					T	48337016	C	T	48337016	3	4	435	1	0	0	0	0	1	0	0	0	6087	855	30	2	213	2	FTSJ1	23	48337016	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	45096030	48337016	106933544	49	37094											
ZMYM3	9203	broad.mit.edu	37	chrX	70469912	70469912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatgctgcagcgagtagcGtcggcgggatccccagactg	14	12	0	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:70469912G>A	ENST00000353904.2	-	6	1402	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000373978.1_Missense_Mutation_p.T309M|ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000373981.1_Silent_p.D405D	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	405					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)					AGCGAGTAGCGTCGGCGGGAT	0.622																																						ENST00000373978.1																			0				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						c.(925-927)aCg>aTg		zinc finger, MYM-type 3							35	32	33					X																	70469912		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469912G>A	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.1215C>T	X.37:g.70469912G>A						ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D|ZMYM3_ENST00000373981.1_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000353904.2_Silent_p.D405D	p.T309M			Q14202	ZMYM3_HUMAN			5	1003	-	Renal(35;0.156)		0					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.926C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.249456	0.00268	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.26	1.77	0.24775	.	.	.	.	.	T	0.48352	0.1495	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	5	0.20046	T	0.44	-9.3438	6.9462	0.24520	0.6415:0.0:0.3585:0.0	.	.	.	.	M	309	.	ENSP00000363090:T309M	T	-	2	0	ZMYM3	70386637	1.000000	0.71417	0.987000	0.45799	0.824000	0.46624	0.900000	0.28431	0.504000	0.28082	-0.643000	0.03959	ACG		0.622	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		14	50	0	0	0	1	0	14	50					A	70469912	G	A	70469912	2	1	435	1	0	0	0	0	0	0	0	1	17698	1136	40	1		1	ZMYM3	23	70469912	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	22132896	70469912	84800648	50	37095											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913570	77913570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcccgggttgctggaggCgccagggactctggggctgc	18	12	1	0	rs139493021	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:77913570C>T	ENST00000321110.1	-	2	643	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A116A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTGCTGGAGGCGCCAGGGACT	0.632													C|||	1	0.000264901	0.0	0.0	3775	,	,		10029	0.0		0.001	False		,,,				2504	0.0					ENST00000321110.1																			2	Substitution - coding silent(2)	p.A116A(2)	large_intestine(1)|breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(346-348)gcG>gcA		zinc finger, CCHC domain containing 5		C		1,3834		0,1,0,1631,571	25	27	27		348	-0.9	0	X	dbSNP_134	27	9,6715		0,6,3,2422,1865	no	coding-synonymous	ZCCHC5	NM_152694.2		0,7,3,4053,2436	TT,TC,T,CC,C		0.1338,0.0261,0.0947		116/476	77913570	10,10549	2203	4296	6499	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913570C>T	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.348G>A	X.37:g.77913570C>T							p.A116A	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	643	-			116			Pro-rich.		B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.348G>A	CCDS14440.1																																																																																				0.632	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		21	62	0	0	0	1	0	21	62					T	77913570	C	T	77913570	2	4	435	1	0	0	0	0	0	0	0	1	17588	755	27	1		1	ZCCHC5	23	77913570	Silent	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	7443658	77913570	77356990	51	37096											
CUL4B	8450	broad.mit.edu	37	chrX	119678007	119678007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttggccttcagctgcatAgagccggttagtttcttcca	9	10	2	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:119678007A>G	ENST00000404115.3	-	9	1590	c.1189T>C	c.(1189-1191)Tat>Cat	p.Y397H	CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H|CUL4B_ENST00000371322.5_Missense_Mutation_p.Y379H|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	397					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGCTGCATAGAGCCGGTTA	0.333																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1135-1137)Tat>Cat		cullin 4B							84	69	74					X																	119678007		2202	4300	6502	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119678007A>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1189T>C	X.37:g.119678007A>G	ENSP00000384109:p.Tyr397His					CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H|CUL4B_ENST00000404115.3_Missense_Mutation_p.Y397H	p.Y379H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			7	1196	-			397					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1135T>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283083	0.80803	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.74	5.74	0.90152	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	H	0.98238	4.18	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	0.98389	1.0562	9	.	.	.	-11.7551	14.1069	0.65096	1.0:0.0:0.0:0.0	.	201;397;379	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	H	379;384;397;201	ENSP00000360373:Y379H;ENSP00000338919:Y384H;ENSP00000384109:Y397H;ENSP00000360374:Y201H	.	Y	-	1	0	CUL4B	119562035	1.000000	0.71417	0.858000	0.33744	0.991000	0.79684	9.261000	0.95576	1.930000	0.55929	0.486000	0.48141	TAT		0.333	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		32	131	0	0	0	1	0	32	131					G	119678007	A	G	119678007	3	3	435	1	0	0	0	0	1	0	0	0	4058	420	15	3	1608	3	CUL4B	23	119678007	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	41764437	119678007	35592553	52	37097											
FMR1	2332	broad.mit.edu	37	chrX	147014218	147014219	+	Frame_Shift_Ins	INS	-	-	A													attaggatcaggatgcagtgINSaaaaaagctagaagctttct							TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:147014218_147014219insA	ENST00000370475.4	+	9	944_945	c.816_817insA	c.(817-819)aaafs	p.K273fs	FMR1_ENST00000439526.2_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000218200.8_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000334557.6_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000440235.2_5'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	273					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)					AGGATGCAGTGAAAAAAGCTAG	0.332									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(814-819)gtaaaafs		fragile X mental retardation 1																																				SO:0001589	frameshift_variant	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014218_147014219insA	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.822dupA	X.37:g.147014224_147014224dupA	ENSP00000359506:p.Lys273fs					FMR1_ENST00000370475.4_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000334557.6_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.VK272fs	p.VK272fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			9	1045_1046	+	Acute lymphoblastic leukemia(192;6.56e-05)		272					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Frame_Shift_Ins	INS	ENST00000370475.4	37	c.816_817insA	CCDS14682.1																																																																																				0.332	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		56	253						56	253	---	---	---	---	A	147014219	-	A	147014218	7	5	435	1	0	1	1	0	0	0	0	0	5960	1277	45	0	850	0	FMR1	23	147014218	Frame_Shift_Ins	INS	-	TCGA-S9-A6WN-01A-12D-A33T-08	27336211	147014218	8256342	53	37098											
C1orf87	127795	broad.mit.edu	37	chr1	60505832	60505832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttcatttgttgtcccActtgggctctggccaatatc	9	12	3	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:60505832A>C	ENST00000371201.3	-	5	611	c.504T>G	c.(502-504)agT>agG	p.S168R	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	168							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGTTGTCCCACTTGGGCTCT	0.443																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(502-504)agT>agG		chromosome 1 open reading frame 87							74	80	78					1																	60505832		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60505832A>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.504T>G	1.37:g.60505832A>C	ENSP00000360244:p.Ser168Arg					C1orf87_ENST00000450089.2_Intron	p.S168R	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			5	611	-			168					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.504T>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	A	1.992	-0.431552	0.04669	.	.	ENSG00000162598	ENST00000371201	T	0.18657	2.2	5.18	2.8	0.32819	.	0.000000	0.64402	D	0.000006	T	0.15176	0.0366	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.18777	-1.0326	10	0.52906	T	0.07	-5.4467	8.3633	0.32372	0.5299:0.0:0.0:0.4701	.	168	Q8N0U7	CA087_HUMAN	R	168	ENSP00000360244:S168R	ENSP00000360244:S168R	S	-	3	2	C1orf87	60278420	0.039000	0.19947	0.310000	0.25168	0.009000	0.06853	0.178000	0.16820	0.406000	0.25560	-0.309000	0.09137	AGT		0.443	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		32	69	0	0	0	1	0	32	69					C	60505832	A	C	60505832	3	2	436	1	0	0	0	0	1	0	0	0	2064	156	6	5	1168	5	C1orf87	1	60505832	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		60505832	188744789	1	37099											
SLC9A11	284525	broad.mit.edu	37	chr1	173552695	173552695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaaatttccaaaaaaaAttgatgcgatgctacaaatg	6	8	0	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:173552695A>G	ENST00000367714.3	-	6	1012	c.590T>C	c.(589-591)aTt>aCt	p.I197T	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I95T	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	197					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCCAAAAAAAATTGATGCGAT	0.289																																						ENST00000367714.3																			0											c.(589-591)aTt>aCt		solute carrier family 9, member C2 (putative)							53	58	56					1																	173552695		2203	4298	6501	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552695A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.590T>C	1.37:g.173552695A>G	ENSP00000356687:p.Ile197Thr					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I95T|RP3-436N22.3_ENST00000431459.1_RNA	p.I197T	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			6	1012	-			197					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.590T>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824582	0.32237	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13307	2.6;2.6	5.37	4.24	0.50183	Cation/H+ exchanger (1);	0.369542	0.23053	N	0.052475	T	0.05777	0.0151	L	0.47716	1.5	0.09310	N	1	B	0.27013	0.166	B	0.32677	0.15	T	0.24835	-1.0149	10	0.66056	D	0.02	-7.9434	8.654	0.34051	0.8301:0.0:0.0:0.1699	.	197	Q5TAH2	S9A11_HUMAN	T	197;95	ENSP00000356687:I197T;ENSP00000445437:I95T	ENSP00000356687:I197T	I	-	2	0	SLC9A11	171819318	0.087000	0.21565	0.002000	0.10522	0.001000	0.01503	2.984000	0.49353	0.869000	0.35703	-0.309000	0.09137	ATT		0.289	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		51	70	0	0	0	1	0	51	70					G	173552695	A	G	173552695	3	3	436	1	0	0	0	0	1	0	0	0	14711	101	4	3	2876	3	SLC9A11	1	173552695	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	113046863	173552695	75697926	2	37100											
PRG4	10216	broad.mit.edu	37	chr1	186273287	186273287	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaagcacctccacctTcaggagcatctcaaaccatc	5	15	2	1	rs150567824		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:186273287T>C	ENST00000445192.2	+	5	412	c.367T>C	c.(367-369)Tca>Cca	p.S123P	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367483.4_Missense_Mutation_p.S82P|PRG4_ENST00000367486.3_Missense_Mutation_p.S123P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	123					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						ACCTCCACCTTCAGGAGCATC	0.408																																						ENST00000445192.2																			0				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						c.(367-369)Tca>Cca		proteoglycan 4		T	,,PRO/SER,PRO/SER	2,4404	4.2+/-10.8	0,2,2201	193	166	175		,,367,244	2.3	0.9	1	dbSNP_134	175	0,8600		0,0,4300	no	intron,intron,missense,missense	PRG4	NM_001127709.1,NM_001127710.1,NM_005807.3,NM_001127708.1	,,74,74	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	,,benign,benign	,,123/1405,82/1364	186273287	2,13004	2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273287T>C	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.367T>C	1.37:g.186273287T>C	ENSP00000399679:p.Ser123Pro					PRG4_ENST00000367486.3_Missense_Mutation_p.S123P|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367483.4_Missense_Mutation_p.S82P	p.S123P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			5	412	+			123					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.367T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.564253	0.00903	4.54E-4	0.0	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.05513	3.43;3.5;3.51;3.54	5.38	2.32	0.28847	.	0.315141	0.22734	N	0.056291	T	0.01835	0.0058	N	0.01352	-0.895	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47861	-0.9084	10	0.02654	T	1	-0.0464	9.9125	0.41415	0.0:0.4896:0.4348:0.0757	.	123;82	Q92954;Q92954-2	PRG4_HUMAN;.	P	123;82;82;123	ENSP00000356456:S123P;ENSP00000356454:S82P;ENSP00000356453:S82P;ENSP00000399679:S123P	ENSP00000356453:S82P	S	+	1	0	PRG4	184539910	0.094000	0.21725	0.862000	0.33874	0.061000	0.15899	0.337000	0.19841	0.222000	0.20900	-0.292000	0.09595	TCA		0.408	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		25	70	0	0	0	1	0	25	70					C	186273287	T	C	186273287	3	2	436	1	0	0	0	0	1	0	0	0	12481	1783	62	3	381	3	PRG4	1	186273287	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	12720592	186273287	62977334	3	37101											
CFH	3075	broad.mit.edu	37	chr1	196716343	196716343	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtgaatcagttgaatTtgtgtgtaaacggggatatc	12	4	1	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:196716343T>A	ENST00000367429.4	+	22	3836	c.3596T>A	c.(3595-3597)tTt>tAt	p.F1199Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1199	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.		F -> S (in AHUS1). {ECO:0000269|PubMed:14978182}.		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						TCAGTTGAATTTGTGTGTAAA	0.398																																						ENST00000367429.4																			0				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	GRCh37	CM044594	CFH	M		c.(3595-3597)tTt>tAt		complement factor H							235	211	219					1																	196716343		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196716343T>A	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.3596T>A	1.37:g.196716343T>A	ENSP00000356399:p.Phe1199Tyr						p.F1199Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			22	3836	+			1199		F -> S (in AHUS1).	Sushi 20.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3596T>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	14.60	2.583818	0.46006	.	.	ENSG00000000971	ENST00000367429	D	0.90444	-2.67	4.35	4.35	0.52113	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	D	0.93301	0.7865	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91635	0.5322	9	0.02654	T	1	.	11.3105	0.49362	0.0:0.0:0.0:1.0	.	1199	P08603	CFAH_HUMAN	Y	1199	ENSP00000356399:F1199Y	ENSP00000356399:F1199Y	F	+	2	0	CFH	194982966	1.000000	0.71417	0.893000	0.35052	0.007000	0.05969	4.180000	0.58296	1.973000	0.57446	0.374000	0.22700	TTT		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	157	0	0	0	1	0	5	157					A	196716343	T	A	196716343	3	1	436	1	0	0	0	0	1	0	0	0	3283	1841	64	5	3700	5	CFH	1	196716343	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	10443056	196716343	52534278	4	37102											
DYSF	8291	broad.mit.edu	37	chr2	71797733	71797733	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttccccctcccccaggctgGgagtatagcatcaccatccc	8	18	1	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:71797733G>A	ENST00000258104.3	+	29	3313	c.3036G>A	c.(3034-3036)tgG>tgA	p.W1012*	DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1012					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCAGGCTGGGAGTATAGCA	0.617																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3034-3036)tgG>tgA		dysferlin							41	41	41					2																	71797733		2202	4299	6501	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797733G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3036G>A	2.37:g.71797733G>A	ENSP00000258104:p.Trp1012*					DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*	p.W1012*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			29	3313	+			1012					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.3036G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	41	8.830378	0.98970	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1896	15.8891	0.79279	0.0:0.0:1.0:0.0	.	.	.	.	X	1043;1029;1029;1012;1012;1044;1013;999;1013;1030;1030	.	ENSP00000258104:W1012X	W	+	3	0	DYSF	71651241	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	9.608000	0.98331	2.322000	0.78497	0.609000	0.83330	TGG		0.617	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	11	0	0	0	1	0	10	11					A	71797733	G	A	71797733	4	1	436	1	0	0	0	0	0	1	0	0	4859	1241	43	2	3342	2	DYSF	2	71797733	Nonsense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		71797733	171401640	5	37103											
CTNNA2	1496	broad.mit.edu	37	chr2	80835412	80835412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgaaggcagaagtgcAgaatctgggaggagagctca	16	6	2	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:80835412A>G	ENST00000402739.4	+	16	2404	c.2399A>G	c.(2398-2400)cAg>cGg	p.Q800R	CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000599412.2_RNA|AC008067.2_ENST00000596783.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	800					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAAGTGCAGAATCTGGGA	0.468																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2398-2400)cAg>cGg		catenin (cadherin-associated protein), alpha 2							109	104	106					2																	80835412		1940	4163	6103	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80835412A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2399A>G	2.37:g.80835412A>G	ENSP00000384638:p.Gln800Arg					AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q800R	p.Q800R			P26232	CTNA2_HUMAN			21	3123	+			800					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2399A>G		.	.	.	.	.	.	.	.	.	.	A	15.88	2.962901	0.53507	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000343114	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.89214	3.015	0.80722	D	1	B;D;P	0.76494	0.036;0.999;0.819	B;D;B	0.75020	0.067;0.985;0.346	T	0.72760	-0.4196	9	.	.	.	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	432;800;800	F6KRI5;P26232;P26232-2	.;CTNA2_HUMAN;.	R	800;800;834;800;800;479	ENSP00000418191:Q800R;ENSP00000419295:Q800R;ENSP00000355398:Q834R;ENSP00000384638:Q800R;ENSP00000444675:Q800R;ENSP00000341500:Q479R	.	Q	+	2	0	CTNNA2	80688923	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	CAG		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	69	0	0	0	1	0	7	69					G	80835412	A	G	80835412	3	3	436	1	0	0	0	0	1	0	0	0	4013	188	7	3	2253	3	CTNNA2	2	80835412	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	9037679	80835412	162363961	6	37104											
CASP8	841	broad.mit.edu	37	chr2	202136285	202136285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagcagatcagaattgAggtcttttaagtttcttttg	10	4	3	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:202136285A>G	ENST00000432109.2	+	4	541	c.352A>G	c.(352-354)Agg>Ggg	p.R118G	CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000358485.4_Missense_Mutation_p.R177G|CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	118	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				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						ATCAGAATTGAGGTCTTTTAA	0.388										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				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						c.(529-531)Agg>Ggg		caspase 8, apoptosis-related cysteine peptidase							128	129	129					2																	202136285		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202136285A>G	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.352A>G	2.37:g.202136285A>G	ENSP00000412523:p.Arg118Gly	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000432109.2_Missense_Mutation_p.R118G|CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G	p.R177G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			3	725	+			118			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.529A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813292	0.32053	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492	T;D;D;D;T;D;D;D;D;D;T;D;T	0.82803	4.4;-1.56;-1.56;-1.56;4.4;-1.56;-1.56;-1.65;-1.56;-1.56;4.37;-1.56;4.4	4.71	2.34	0.29019	DEATH-like (2);Death effector (3);	0.810102	0.11624	N	0.545442	T	0.77164	0.4090	L	0.46157	1.445	0.23277	N	0.997995	B;P;B;B;P;P;B;B;B;P	0.43094	0.016;0.481;0.404;0.099;0.673;0.692;0.012;0.03;0.246;0.799	B;B;B;B;B;B;B;B;B;B	0.42738	0.02;0.217;0.167;0.075;0.396;0.364;0.021;0.014;0.156;0.364	T	0.61564	-0.7037	10	0.23302	T	0.38	.	8.046	0.30549	0.8297:0.0:0.1703:0.0	.	118;118;118;118;118;177;118;118;150;118	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	G	118;118;118;118;118;150;15;118;118;118;177;118;118;118	ENSP00000376091:R118G;ENSP00000264274:R118G;ENSP00000376088:R118G;ENSP00000376094:R118G;ENSP00000412523:R118G;ENSP00000264275:R150G;ENSP00000391709:R15G;ENSP00000396869:R118G;ENSP00000376087:R118G;ENSP00000388306:R118G;ENSP00000351273:R177G;ENSP00000397528:R118G;ENSP00000325722:R118G	ENSP00000264274:R118G	R	+	1	2	CASP8	201844530	0.993000	0.37304	0.034000	0.17996	0.001000	0.01503	3.247000	0.51422	0.318000	0.23185	-0.376000	0.06991	AGG		0.388	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		11	60	0	0	0	1	0	11	60					G	202136285	A	G	202136285	3	3	436	1	0	0	0	0	1	0	0	0	2677	295	11	3	639	3	CASP8	2	202136285	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	121300873	202136285	41063088	7	37105											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			49	63	0	0	0	1	0	49	63					T	209113112	C	T	209113112	3	4	436	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	6976827	209113112	34086261	8	37106											
HGD	3081	broad.mit.edu	37	chr3	120360529	120360529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaggccacaacattgaaCggggagacatcctaaacaca	9	12	0	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:120360529C>T	ENST00000283871.5	-	11	1245	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	262					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)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAACATTGAACGGGGAGACAT	0.418																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(784-786)ccG>ccA		homogentisate 1,2-dioxygenase							133	119	124					3																	120360529		2203	4300	6503	SO:0001819	synonymous_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120360529C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.786G>A	3.37:g.120360529C>T							p.P262P	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	11	1245	-			262					A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	c.786G>A	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.29|17.29	3.353173|3.353173	0.61293|0.61293	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000494453|ENST00000475447	.|.	.|.	.|.	5.25|5.25	-10.5|-10.5	0.00291|0.00291	.|.	.|.	.|.	.|.	.|.	T|T	0.56775|0.56775	0.2008|0.2008	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68191|0.68191	-0.5474|-0.5474	4|4	.|.	.|.	.|.	-9.1996|-9.1996	12.8683|12.8683	0.57951|0.57951	0.0:0.5267:0.1814:0.2919|0.0:0.5267:0.1814:0.2919	.|.	.|.	.|.	.|.	H|I	69|72	.|.	.|.	R|V	-|-	2|1	0|0	HGD|HGD	121843219|121843219	0.932000|0.932000	0.31603|0.31603	0.246000|0.246000	0.24233|0.24233	0.993000|0.993000	0.82548|0.82548	-0.029000|-0.029000	0.12329|0.12329	-2.529000|-2.529000	0.00492|0.00492	-0.294000|-0.294000	0.09567|0.09567	CGT|GTT		0.418	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			6	109	0	0	0	1	0	6	109					T	120360529	C	T	120360529	2	4	436	1	0	0	0	0	0	0	0	1	7084	523	19	1		1	HGD	3	120360529	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		120360529	77661901	9	37107											
MMRN1	22915	broad.mit.edu	37	chr4	90857200	90857200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattctattcagactttggTcaatgacaatcagagatata	7	6	4	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:90857200T>C	ENST00000394980.1	+	7	2688	c.2369T>C	c.(2368-2370)gTc>gCc	p.V790A	MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A			Q13201	MMRN1_HUMAN	multimerin 1	790					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2368-2370)gTc>gCc		multimerin 1							56	55	55					4																	90857200		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857200T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2369T>C	4.37:g.90857200T>C	ENSP00000378431:p.Val790Ala					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A	p.V790A			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2688	+		Hepatocellular(203;0.114)	790					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2369T>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	7.315	0.615783	0.14129	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70399	-0.17;-0.17;-0.48	4.97	2.51	0.30379	.	1.462680	0.04052	N	0.304977	T	0.65964	0.2742	L	0.50333	1.59	0.40956	D	0.984584	B	0.02656	0.0	B	0.04013	0.001	T	0.37709	-0.9694	10	0.21540	T	0.41	.	9.5522	0.39317	0.0:0.1463:0.0:0.8537	.	790	Q13201	MMRN1_HUMAN	A	790;790;532	ENSP00000378431:V790A;ENSP00000264790:V790A;ENSP00000426461:V532A	ENSP00000264790:V790A	V	+	2	0	MMRN1	91076223	0.491000	0.26019	0.766000	0.31476	0.192000	0.23643	2.667000	0.46808	0.439000	0.26476	-0.256000	0.11100	GTC		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		3	70	0	0	0	1	0	3	70					C	90857200	T	C	90857200	3	2	436	1	0	0	0	0	1	0	0	0	9670	1667	58	3	2391	3	MMRN1	4	90857200	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		90857200	100297076	10	37108											
LEF1	51176	broad.mit.edu	37	chr4	108985490	108985490	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagtctcatggtgcctAcctgatgcagattcctgtag	11	9	1	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:108985490A>G	ENST00000265165.1	-	10	1820		c.e10+1		LEF1_ENST00000379951.2_Splice_Site|LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000510624.1_Splice_Site	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|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 proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|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 regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAG	0.433																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.e9+1		lymphoid enhancer-binding factor 1							376	325	342					4																	108985490		2203	4300	6503	SO:0001630	splice_region_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108985490A>G		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1165+1T>C	4.37:g.108985490A>G						LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000265165.1_Splice_Site		NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	9	2270	-								B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Splice_Site	SNP	ENST00000265165.1	37		CCDS3679.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274690	0.40194	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1084	0.53825	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEF1	109204939	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.384000	0.79751	1.841000	0.53522	0.533000	0.62120	.		0.433	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		Intron	18	64	0	0	0	1	0	18	64					G	108985490	A	G	108985490	5	3	436	1	0	0	0	0	0	0	1	0	8714	405	14	3	124	3	LEF1	4	108985490	Splice_Site	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	18128290	108985490	82168786	11	37109											
NR3C2	4306	broad.mit.edu	37	chr4	149075788	149075788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattttcggctgtaTctggttttgagctgtcatag	12	6	2	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:149075788T>C	ENST00000358102.3	-	5	2641	c.2279A>G	c.(2278-2280)gAt>gGt	p.D760G	NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000355292.3_Missense_Mutation_p.D764G|NR3C2_ENST00000512865.1_Intron	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	760	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCGGCTGTATCTGGTTTTGA	0.488																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2290-2292)gAt>gGt		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						202	199	200					4																	149075788		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075788T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2279A>G	4.37:g.149075788T>C	ENSP00000350815:p.Asp760Gly					NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.D760G	p.D764G			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2653	-	all_hematologic(180;0.151)		760			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2291A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999765	0.74818	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.91	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.79123	2.44	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	D	0.97529	1.0078	9	.	.	.	.	13.3837	0.60783	0.0:0.0:0.1313:0.8687	.	760	B0ZBF6	.	G	760;764;760;764	ENSP00000341390:D760G;ENSP00000347441:D764G;ENSP00000350815:D760G;ENSP00000421481:D764G	.	D	-	2	0	NR3C2	149295238	1.000000	0.71417	0.536000	0.28039	0.678000	0.39670	8.029000	0.88807	1.040000	0.40099	0.533000	0.62120	GAT		0.488	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	130	0	0	0	1	0	4	130					C	149075788	T	C	149075788	3	2	436	1	0	0	0	0	1	0	0	0	10631	1435	50	3	695	3	NR3C2	4	149075788	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	40090298	149075788	42078488	12	37110											
SLCO4C1	353189	broad.mit.edu	37	chr5	101595961	101595961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatactttttccaaatttcaCatctgcattactattactct	1	10	3	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:101595961C>T	ENST00000310954.6	-	6	1370	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAAATTTCACATCTGCATTA	0.294																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1084-1086)Gtg>Atg		solute carrier organic anion transporter family, member 4C1							40	42	41					5																	101595961		2200	4295	6495	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101595961C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1084G>A	5.37:g.101595961C>T	ENSP00000309741:p.Val362Met						p.V362M	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	6	1370	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	362						Missense_Mutation	SNP	ENST00000310954.6	37	c.1084G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038720	0.08148	.	.	ENSG00000173930	ENST00000310954	T	0.39056	1.1	5.75	1.36	0.22044	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.089520	0.06969	N	0.817712	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.22765	-1.0207	10	0.46703	T	0.11	.	6.2323	0.20742	0.0:0.4847:0.2716:0.2437	.	362	Q6ZQN7	SO4C1_HUMAN	M	362	ENSP00000309741:V362M	ENSP00000309741:V362M	V	-	1	0	SLCO4C1	101623860	0.000000	0.05858	0.104000	0.21259	0.017000	0.09413	-0.354000	0.07681	0.329000	0.23460	0.650000	0.86243	GTG		0.294	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		8	18	0	0	0	1	0	8	18					T	101595961	C	T	101595961	3	4	436	1	0	0	0	0	1	0	0	0	14730	478	17	2	1122	2	SLCO4C1	5	101595961	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		101595961	79319299	13	37111											
ZNF608	57507	broad.mit.edu	37	chr5	123980089	123980089	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccactcttgttccccgagagTccttccagttcacaggagtc	8	15	2	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:123980089T>A	ENST00000306315.5	-	5	4406	c.3971A>T	c.(3970-3972)gAc>gTc	p.D1324V	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1324							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)		TCCCCGAGAGTCCTTCCAGTT	0.478																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3970-3972)gAc>gTc		zinc finger protein 608							240	215	223					5																	123980089		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980089T>A	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.3971A>T	5.37:g.123980089T>A	ENSP00000307746:p.Asp1324Val					ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	p.D1324V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	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)	5	4406	-		all_cancers(142;0.186)|Prostate(80;0.081)	1324					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3971A>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812304	0.70912	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.55052	0.62;0.54	5.76	5.76	0.90799	.	0.104936	0.64402	D	0.000003	T	0.60766	0.2294	L	0.51422	1.61	0.80722	D	1	P	0.44478	0.836	P	0.52343	0.696	T	0.57441	-0.7811	9	.	.	.	-22.6283	16.3611	0.83269	0.0:0.0:0.0:1.0	.	1324	Q9ULD9	ZN608_HUMAN	V	897;1324	ENSP00000427657:D897V;ENSP00000307746:D1324V	.	D	-	2	0	ZNF608	124007988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.890000	0.87313	2.319000	0.78375	0.523000	0.50628	GAC		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		6	142	0	0	0	1	0	6	142					A	123980089	T	A	123980089	3	1	436	1	0	0	0	0	1	0	0	0	18031	1667	58	5	587	5	ZNF608	5	123980089	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	22384128	123980089	56935171	14	37112											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234906	26234906	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctttgctcaccaagctctTgaggccaagcttgatacggc	9	13	2	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:26234906T>A	ENST00000244534.5	-	1	310	c.256A>T	c.(256-258)Aag>Tag	p.K86*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	86	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCAAGCTCTTGAGGCCAAGC	0.542																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(256-258)Aag>Tag		histone cluster 1, H1d							99	105	103					6																	26234906		2203	4300	6503	SO:0001587	stop_gained	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234906T>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.256A>T	6.37:g.26234906T>A	ENSP00000244534:p.Lys86*						p.K86*	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	310	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	86			H15.		B2R751|Q2M2I2	Nonsense_Mutation	SNP	ENST00000244534.5	37	c.256A>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.462814	0.63513	.	.	ENSG00000124575	ENST00000244534	.	.	.	5.23	5.23	0.72850	.	0.046775	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7509	14.6026	0.68450	0.0:0.0:0.0:1.0	.	.	.	.	X	86	.	ENSP00000244534:K86X	K	-	1	0	HIST1H1D	26342885	1.000000	0.71417	0.979000	0.43373	0.068000	0.16541	5.042000	0.64202	2.119000	0.64992	0.533000	0.62120	AAG		0.542	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		6	164	0	0	0	1	0	6	164					A	26234906	T	A	26234906	4	1	436	1	0	0	0	0	0	1	0	0	7125	1821	63	5	413	5	HIST1H1D	6	26234906	Nonsense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		26234906	144880161	15	37113											
VIP	7432	broad.mit.edu	37	chr6	153076508	153076508	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttatgggaaaacgtgttaGgtaaagagaatttattattt	9	2	1	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:153076508G>C	ENST00000367244.3	+	4	507	c.335G>C	c.(334-336)aGc>aCc	p.S112T	VIP_ENST00000367243.3_Splice_Site_p.S112T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	112					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AAACGTGTTAGGTAAAGAGaa	0.313																																						ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.e4+1		vasoactive intestinal peptide							39	40	40					6																	153076508		2203	4298	6501	SO:0001630	splice_region_variant	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153076508G>C		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.335+1G>C	6.37:g.153076508G>C						VIP_ENST00000367243.3_Splice_Site_p.S112_splice	p.S112_splice	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	4	507	+		Ovarian(120;0.0654)	112					Q5TCY8|Q5TCY9|Q96QK3	Splice_Site	SNP	ENST00000367244.3	37	c.335_splice	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.19|17.19	3.327119|3.327119	0.60743|0.60743	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	T;T|.	0.26518|.	1.77;1.73|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.298098|.	0.42053|.	D|.	0.000773|.	T|.	0.79759|.	0.4501|.	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	P;P;B|.	0.45176|.	0.77;0.852;0.286|.	B;B;B|.	0.43783|.	0.248;0.431;0.082|.	T|.	0.78048|.	-0.2356|.	10|.	0.48119|.	T|.	0.1|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	112;112;112|.	A8K7E4;P01282-2;P01282|.	.;.;VIP_HUMAN|.	T|Y	112|61	ENSP00000356213:S112T;ENSP00000356212:S112T|.	ENSP00000356212:S112T|.	S|X	+|+	2|3	0|2	VIP|VIP	153118201|153118201	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.344000|7.344000	0.79328|0.79328	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	AGC;AGT|TAG		0.313	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1		Missense_Mutation	13	38	0	0	0	1	0	13	38					C	153076508	G	C	153076508	5	2	436	1	0	0	0	0	0	0	1	0	17164	1014	35	4	345	4	VIP	6	153076508	Splice_Site	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	126841602	153076508	18038559	16	37114											
INTS1	26173	broad.mit.edu	37	chr7	1516294	1516294	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcagaggggtcgaacCtgtggggaggcaaaggttcc	19	7	0	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:1516294C>G	ENST00000404767.3	-	37	5149		c.e37-1		INTS1_ENST00000389470.4_Splice_Site	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						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)		GGGGTCGAACCTGTGGGGAGG	0.627																																						ENST00000389470.4																			0				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						c.e38-1		integrator complex subunit 1							39	47	44					7																	1516294		2058	4204	6262	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1516294C>G	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.5064-1G>C	7.37:g.1516294C>G						INTS1_ENST00000404767.3_Splice_Site				Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	38	5660	-		Ovarian(82;0.0253)						A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Splice_Site	SNP	ENST00000404767.3	37		CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929927	0.34096	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5364	0.91011	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS1	1482820	1.000000	0.71417	0.973000	0.42090	0.071000	0.16799	7.426000	0.80270	2.386000	0.81285	0.561000	0.74099	.		0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		Intron	17	57	0	0	0	1	0	17	57					G	1516294	C	G	1516294	5	3	436	1	0	0	0	0	0	0	1	0	7775	695	24	4	1557	4	INTS1	7	1516294	Splice_Site	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		1516294	157622369	17	37115											
CARD11	84433	broad.mit.edu	37	chr7	2983876	2983876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctcggctcctcatgacCgccatgttcttctcctcact	7	16	5	1	rs113957419	byFrequency	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:2983876C>T	ENST00000396946.4	-	5	1057	c.654G>A	c.(652-654)gcG>gcA	p.A218A	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	218					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)		TCCTCATGACCGCCATGTTCT	0.572			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				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						c.(652-654)gcG>gcA		caspase recruitment domain family, member 11							163	101	122					7																	2983876		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983876C>T	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.654G>A	7.37:g.2983876C>T						AC004906.3_ENST00000423194.1_RNA	p.A218A	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	1057	-		Ovarian(82;0.0115)	218					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.654G>A	CCDS5336.2																																																																																				0.572	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		19	42	0	0	0	1	0	19	42					T	2983876	C	T	2983876	2	4	436	1	0	0	0	0	0	0	0	1	2645	639	23	1		1	CARD11	7	2983876	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	1467582	2983876	156154787	18	37116											
SH2B2	10603	broad.mit.edu	37	chr7	101960850	101960850	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcacgtacagcatctgtGgttccagtctgtgcttgaca	11	10	3	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:101960850G>A	ENST00000536178.1	+	9	1610	c.1565G>A	c.(1564-1566)tGg>tAg	p.W522*	SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	483					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CAGCATCTGTGGTTCCAGTCT	0.647																																						ENST00000536178.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(1564-1566)tGg>tAg		SH2B adaptor protein 2							71	77	75					7																	101960850		2185	4275	6460	SO:0001587	stop_gained	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101960850G>A	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	17381	protein-coding gene	gene with protein product	"adaptor protein with pleckstrin homology and src"	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1565G>A	7.37:g.101960850G>A	ENSP00000440273:p.Trp522*					SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*	p.W522*			O14492	SH2B2_HUMAN			9	1610	+			483					A6ND74	Nonsense_Mutation	SNP	ENST00000536178.1	37	c.1565G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.630630|6.630630	0.97718|0.97718	.|.	.|.	ENSG00000160999|ENSG00000160999	ENST00000432527|ENST00000536178;ENST00000306803	.|.	.|.	.|.	4.57|4.57	3.62|3.62	0.41486|0.41486	.|.	.|0.062548	.|0.64402	.|D	.|0.000001	T|.	0.33381|.	0.0861|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1.000000|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29610|.	-1.0006|.	3|.	.|0.02654	.|T	.|1	-19.8588|-19.8588	13.7459|13.7459	0.62874|0.62874	0.0:0.0:0.8461:0.1539|0.0:0.0:0.8461:0.1539	.|.	.|.	.|.	.|.	S|X	88|522;482	.|.	.|ENSP00000304701:W482X	G|W	+|+	1|2	0|0	SH2B2|SH2B2	101747570|101747570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.014000|6.014000	0.70784|0.70784	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.647	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		11	144	0	0	0	1	0	11	144					A	101960850	G	A	101960850	4	1	436	1	0	0	0	0	0	1	0	0	14228	1357	47	2	1339	2	SH2B2	7	101960850	Nonsense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	98976974	101960850	57177813	19	37117											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138444521	138444521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggatcctccagaggggcGtccatctcactgaacttcaa	9	13	2	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:138444521G>A	ENST00000310018.2	-	8	897	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ATP6V0A4_ENST00000393054.1_Silent_p.D205D|ATP6V0A4_ENST00000353492.4_Silent_p.D205D|ATP6V0A4_ENST00000483139.1_5'Flank	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	205					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						CCAGAGGGGCGTCCATCTCAC	0.532																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(613-615)gaC>gaT		ATPase, H+ transporting, lysosomal V0 subunit a4							106	90	96					7																	138444521		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138444521G>A	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.615C>T	7.37:g.138444521G>A						ATP6V0A4_ENST00000393054.1_Silent_p.D205D|ATP6V0A4_ENST00000353492.4_Silent_p.D205D	p.D205D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			8	897	-			205					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.615C>T	CCDS5849.1																																																																																				0.532	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		4	65	0	0	0	1	0	4	65					A	138444521	G	A	138444521	2	1	436	1	0	0	0	0	0	0	0	1	1170	1136	40	1		1	ATP6V0A4	7	138444521	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	36483671	138444521	20694142	20	37118											
PAXIP1	22976	broad.mit.edu	37	chr7	154767623	154767623	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagttaatcaacccaggcTcctttccctgaggcagcctg	8	14	1	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:154767623T>C	ENST00000404141.1	-	6	1011	c.857A>G	c.(856-858)gAg>gGg	p.E286G	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	286					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAACCCAGGCTCCTTTCCCTG	0.522																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(856-858)gAg>gGg		PAX interacting (with transcription-activation domain) protein 1							58	55	56					7																	154767623		1873	4095	5968	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767623T>C	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.857A>G	7.37:g.154767623T>C	ENSP00000384048:p.Glu286Gly					PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G|PAXIP1_ENST00000473219.1_5'UTR	p.E286G			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	1011	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	286					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.857A>G	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772851	0.49680	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.34275	1.37;1.37	5.04	3.89	0.44902	.	0.242632	0.27996	N	0.017013	T	0.27241	0.0668	L	0.27053	0.805	0.33463	D	0.585143	B;B;B;B	0.29136	0.001;0.234;0.002;0.076	B;B;B;B	0.33690	0.001;0.168;0.003;0.031	T	0.35847	-0.9772	10	0.41790	T	0.15	-31.0315	10.1333	0.42691	0.0:0.0808:0.0:0.9192	.	239;195;252;286	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	G	286;286;234;239	ENSP00000384048:E286G;ENSP00000380376:E286G	ENSP00000319149:E239G	E	-	2	0	PAXIP1	154398556	1.000000	0.71417	0.911000	0.35937	0.949000	0.60115	3.366000	0.52343	0.879000	0.35944	0.254000	0.18369	GAG		0.522	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		3	44	0	0	0	1	0	3	44					C	154767623	T	C	154767623	3	2	436	1	0	0	0	0	1	0	0	0	11487	1551	54	3	2416	3	PAXIP1	7	154767623	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	16323102	154767623	4371040	21	37119											
RP1	6101	broad.mit.edu	37	chr8	55540532	55540532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaactgaagagttagaaAgaggtgatgacattcagaaa	10	4	2	7			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:55540532A>G	ENST00000220676.1	+	4	4238	c.4090A>G	c.(4090-4092)Aga>Gga	p.R1364G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1364					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)			AGAGTTAGAAAGAGGTGATGA	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				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						c.(4090-4092)Aga>Gga		retinitis pigmentosa 1 (autosomal dominant)							61	66	64					8																	55540532		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540532A>G	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.4090A>G	8.37:g.55540532A>G	ENSP00000220676:p.Arg1364Gly						p.R1364G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4238	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1364						Missense_Mutation	SNP	ENST00000220676.1	37	c.4090A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788706	0.31685	.	.	ENSG00000104237	ENST00000220676	T	0.22336	1.96	5.89	5.89	0.94794	.	0.579979	0.16729	N	0.201956	T	0.16300	0.0392	L	0.27053	0.805	0.24761	N	0.992926	B	0.17852	0.024	B	0.15052	0.012	T	0.12372	-1.0550	10	0.72032	D	0.01	.	10.0529	0.42228	0.9249:0.0:0.0751:0.0	.	1364	P56715	RP1_HUMAN	G	1364	ENSP00000220676:R1364G	ENSP00000220676:R1364G	R	+	1	2	RP1	55703085	0.918000	0.31147	0.018000	0.16275	0.626000	0.37791	2.578000	0.46051	2.254000	0.74563	0.533000	0.62120	AGA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	77	0	0	0	1	0	4	77					G	55540532	A	G	55540532	3	3	436	1	0	0	0	0	1	0	0	0	13532	64	3	3	4100	3	RP1	8	55540532	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		55540532	90823490	22	37120											
RIPK2	8767	broad.mit.edu	37	chr8	90782109	90782109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatatgccacctgaaaactAtgaacctggacaaaaatcaa	5	10	1	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:90782109A>G	ENST00000220751.4	+	4	907	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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 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 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|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 peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCTGAAAACTATGAACCTGGA	0.408																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(592-594)tAt>tGt		receptor-interacting serine-threonine kinase 2							118	118	118					8																	90782109		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90782109A>G	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.593A>G	8.37:g.90782109A>G	ENSP00000220751:p.Tyr198Cys					RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	p.Y198C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		4	907	+			198			Protein kinase.		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.593A>G	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910271	0.72983	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.65178	-0.14;-0.14	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38897	N	0.001533	T	0.66809	0.2827	N	0.16862	0.45	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72394	-0.4307	10	0.72032	D	0.01	-19.3822	15.5958	0.76578	1.0:0.0:0.0:0.0	.	198	O43353	RIPK2_HUMAN	C	198;61	ENSP00000220751:Y198C;ENSP00000441623:Y61C	ENSP00000220751:Y198C	Y	+	2	0	RIPK2	90851246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.277000	0.76020	0.528000	0.53228	TAT		0.408	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			6	226	0	0	0	1	0	6	226					G	90782109	A	G	90782109	3	3	436	1	0	0	0	0	1	0	0	0	13381	449	16	3	607	3	RIPK2	8	90782109	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	35241577	90782109	55581913	23	37121											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	12	11	1	0	rs571576756		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(919-921)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135	149	144					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H	p.R307H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1401	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		4	210	0	0	0	1	0	4	210					A	133364801	G	A	133364801	3	1	436	1	0	0	0	0	1	0	0	0	1061	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		133364801	7848630	24	37122											
SEPHS1	22929	broad.mit.edu	37	chr10	13386920	13386920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgtccaattcgtaacTttccgggttaaaggactccc	8	11	0	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:13386920T>C	ENST00000327347.5	-	2	406	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	11					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AATTCGTAACTTTCCGGGTTA	0.542																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(31-33)Agt>Ggt		selenophosphate synthetase 1							105	110	108					10																	13386920		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13386920T>C	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.31A>G	10.37:g.13386920T>C	ENSP00000367893:p.Ser11Gly					SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G	p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			2	406	-			11					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.31A>G	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066664	0.36470	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000413411	T;T;T	0.46063	0.91;0.9;0.88	4.7	4.7	0.59300	.	0.080328	0.85682	D	0.000000	T	0.32010	0.0815	L	0.29908	0.895	0.58432	D	0.999998	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.08027	-1.0742	10	0.39692	T	0.17	-25.2257	13.3516	0.60605	0.0:0.0:0.0:1.0	.	11;11;11;11	Q5T5U9;P49903;D6PSQ9;D3DRS9	.;SPS1_HUMAN;.;.	G	11	ENSP00000367893:S11G;ENSP00000367877:S11G;ENSP00000441119:S11G	ENSP00000367887:S11G	S	-	1	0	SEPHS1	13426926	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.095000	0.64529	1.745000	0.51790	0.260000	0.18958	AGT		0.542	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		7	158	0	0	0	1	0	7	158					C	13386920	T	C	13386920	3	2	436	1	0	0	0	0	1	0	0	0	14054	1609	56	3	1179	3	SEPHS1	10	13386920	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		13386920	122147827	25	37123											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454040	37454040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgagatactcccatcagAatccaaacaaaaggactatg	7	9	1	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:37454040A>G	ENST00000602533.1	+	18	1952	c.1853A>G	c.(1852-1854)gAa>gGa	p.E618G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCCCATCAGAATCCAAACAA	0.284																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1852-1854)gAa>gGa		ankyrin repeat domain 30A							115	109	111					10																	37454040		1804	4062	5866	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454040A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1853A>G	10.37:g.37454040A>G	ENSP00000473551:p.Glu618Gly					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G	p.E618G			Q9BXX3	AN30A_HUMAN			18	1952	+			674					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1853A>G		.	.	.	.	.	.	.	.	.	.	.	2.982	-0.210155	0.06140	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07327	3.2;3.2	1.01	-2.02	0.07388	.	.	.	.	.	T	0.08802	0.0218	L	0.27053	0.805	0.09310	N	1	P	0.45126	0.851	P	0.55391	0.775	T	0.24297	-1.0164	9	0.21540	T	0.41	.	2.882	0.05650	0.2371:0.3804:0.3825:0.0	.	674	Q9BXX3	AN30A_HUMAN	G	618	ENSP00000354432:E618G;ENSP00000363792:E618G	ENSP00000354432:E618G	E	+	2	0	ANKRD30A	37494046	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	-0.692000	0.05128	-0.904000	0.02843	GAA		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		19	115	0	0	0	1	0	19	115					G	37454040	A	G	37454040	3	3	436	1	0	0	0	0	1	0	0	0	658	246	9	3	1923	3	ANKRD30A	10	37454040	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	24067120	37454040	98080707	26	37124											
IPMK	253430	broad.mit.edu	37	chr10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatattttcctgtgacgcGcatacatcttggacaagctt	7	9	1	1	rs375383787		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(955-957)gCg>gTg		inositol polyphosphate multikinase		G	VAL/ALA	0,4406		0,0,2203	144	146	145		956	2.9	0.5	10		145	3,8597	3.0+/-9.4	0,3,4297	no	missense	IPMK	NM_152230.4	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	319/417	59956132	3,13003	2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956132G>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.956C>T	10.37:g.59956132G>A	ENSP00000363046:p.Ala319Val						p.A319V	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			6	1278	-			319						Missense_Mutation	SNP	ENST00000373935.3	37	c.956C>T	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489926	0.12702	0.0	3.49E-4	ENSG00000151151	ENST00000373935	T	0.17213	2.29	6.07	2.93	0.34026	.	0.417900	0.29876	N	0.010973	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.36672	-0.9738	9	.	.	.	-0.9649	7.9357	0.29929	0.3101:0.0:0.6899:0.0	.	319	Q8NFU5	IPMK_HUMAN	V	319	ENSP00000363046:A319V	.	A	-	2	0	IPMK	59626138	0.995000	0.38212	0.540000	0.28089	0.248000	0.25809	3.557000	0.53741	0.918000	0.36919	-0.225000	0.12378	GCG		0.378	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		5	173	0	0	0	1	0	5	173					A	59956132	G	A	59956132	3	1	436	1	0	0	0	0	1	0	0	0	7792	1087	38	1	298	1	IPMK	10	59956132	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	22502092	59956132	75578615	27	37125											
TACC2	10579	broad.mit.edu	37	chr10	123847056	123847056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggcaaccagagcaccCctgcaccaccaactggagaa	9	17	0	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:123847056C>A	ENST00000369005.1	+	4	5381	c.5041C>A	c.(5041-5043)Cct>Act	p.P1681T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T|TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1681					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)				CCAGAGCACCCCTGCACCACC	0.622																																						ENST00000369005.1																			0				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						c.(5041-5043)Cct>Act		transforming, acidic coiled-coil containing protein 2							59	59	59					10																	123847056		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123847056C>A	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.5041C>A	10.37:g.123847056C>A	ENSP00000358001:p.Pro1681Thr					TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T|TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T	p.P1681T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	5381	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1681					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5041C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387489	0.61956	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.19669	2.42;2.49;2.13;2.42;2.49	5.48	5.48	0.80851	.	0.234632	0.22309	N	0.061745	T	0.34861	0.0912	L	0.32530	0.975	0.09310	N	0.999999	D;D;D	0.71674	0.998;0.998;0.993	D;P;P	0.64687	0.928;0.881;0.881	T	0.12167	-1.0558	10	0.72032	D	0.01	-1.6341	16.095	0.81114	0.0:1.0:0.0:0.0	.	1681;1681;1681	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	1681;1681;1681;1681;1681;1671	ENSP00000358001:P1681T;ENSP00000424467:P1681T;ENSP00000427618:P1681T;ENSP00000334280:P1681T;ENSP00000395048:P1681T	ENSP00000334280:P1681T	P	+	1	0	TACC2	123837046	0.002000	0.14202	0.153000	0.22517	0.010000	0.07245	1.470000	0.35354	2.562000	0.86427	0.643000	0.83706	CCT		0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	40	1	0	0.0381472	1	0.0388284	7	40					A	123847056	C	A	123847056	3	1	436	1	0	0	0	0	1	0	0	0	15499	623	22	4	5051	4	TACC2	10	123847056	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	63890924	123847056	11687691	28	37126											
OR5J2	282775	broad.mit.edu	37	chr11	55944829	55944829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtgcctctcacctgActgctgtgaccatattctat	6	15	2	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:55944829A>G	ENST00000312298.1	+	1	736	c.736A>G	c.(736-738)Act>Gct	p.T246A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTCTCACCTGACTGCTGTGAC	0.443																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(736-738)Act>Gct		olfactory receptor, family 5, subfamily J, member 2							136	124	128					11																	55944829		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944829A>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.736A>G	11.37:g.55944829A>G	ENSP00000310788:p.Thr246Ala						p.T246A	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	736	+	Esophageal squamous(21;0.00693)		246					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.736A>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244032	0.22796	.	.	ENSG00000174957	ENST00000312298	T	0.37235	1.21	4.26	0.0808	0.14422	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.40546	0.1121	L	0.56280	1.765	0.09310	N	1	D	0.63046	0.992	P	0.60541	0.876	T	0.24119	-1.0169	10	0.49607	T	0.09	.	2.0969	0.03670	0.5181:0.1375:0.0789:0.2656	.	246	Q8NH18	OR5J2_HUMAN	A	246	ENSP00000310788:T246A	ENSP00000310788:T246A	T	+	1	0	OR5J2	55701405	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.143000	0.10296	-0.180000	0.10637	0.482000	0.46254	ACT		0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		34	74	0	0	0	1	0	34	74					G	55944829	A	G	55944829	3	3	436	1	0	0	0	0	1	0	0	0	11165	275	10	3	738	3	OR5J2	11	55944829	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		55944829	79061687	29	37127											
OR5M3	219482	broad.mit.edu	37	chr11	56237368	56237368	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggaatatgtgaagttaatGccggcaagtatgatcattgt	12	4	1	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:56237368G>C	ENST00000312240.2	-	1	646	c.606C>G	c.(604-606)ggC>ggG	p.G202G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202						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(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAAGTTAATGCCGGCAAGTA	0.418																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(604-606)ggC>ggG		olfactory receptor, family 5, subfamily M, member 3							128	125	126					11																	56237368		2201	4296	6497	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237368G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.606C>G	11.37:g.56237368G>C							p.G202G	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	646	-	Esophageal squamous(21;0.00448)		202					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.606C>G	CCDS31532.1																																																																																				0.418	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		32	103	0	0	0	1	0	32	103					C	56237368	G	C	56237368	2	2	436	1	0	0	0	0	0	0	0	1	11175	1306	46	4		4	OR5M3	11	56237368	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	292539	56237368	78769148	30	37128											
PIH1D2	120379	broad.mit.edu	37	chr11	111941252	111941252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtttctcactgtgatcatGcacaatttttagttcatagg	8	7	3	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:111941252G>T	ENST00000280350.4	-	5	943	c.721C>A	c.(721-723)Cat>Aat	p.H241N	PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	241										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTGTGATCATGCACAATTTTT	0.398																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(721-723)Cat>Aat		PIH1 domain containing 2							147	151	149					11																	111941252		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941252G>T	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.721C>A	11.37:g.111941252G>T	ENSP00000280350:p.His241Asn					PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H241N|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N	p.H241N			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	5	1046	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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)	241					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.721C>A	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.861|0.861	-0.735405|-0.735405	0.03111|0.03111	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000525072|ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641	.|T;T;T;T;T	.|0.16196	.|2.36;2.36;2.36;2.36;2.36	6.17|6.17	0.22|0.22	0.15279|0.15279	.|.	.|1.069820	.|0.07046	.|N	.|0.831129	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.41610|0.41610	-0.9499|-0.9499	5|10	.|0.16896	.|T	.|0.51	-0.1351|-0.1351	9.5991|9.5991	0.39591|0.39591	0.0:0.0926:0.1387:0.7687|0.0:0.0926:0.1387:0.7687	.|.	.|241;241;241	.|B4DU48;E9PD82;Q8WWB5	.|.;.;PIHD2_HUMAN	E|N	196|241	.|ENSP00000434275:H241N;ENSP00000388209:H241N;ENSP00000431841:H241N;ENSP00000280350:H241N;ENSP00000431147:H241N	.|ENSP00000280350:H241N	A|H	-|-	2|1	0|0	PIH1D2|PIH1D2	111446462|111446462	0.049000|0.049000	0.20398|0.20398	0.016000|0.016000	0.15963|0.15963	0.195000|0.195000	0.23768|0.23768	0.841000|0.841000	0.27613|0.27613	-0.167000|-0.167000	0.10871|0.10871	-0.182000|-0.182000	0.12963|0.12963	GCA|CAT		0.398	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		5	132	1	0	0.184627	1	0.184627	5	132					T	111941252	G	T	111941252	3	4	436	1	0	0	0	0	1	0	0	0	11907	1319	46	4	292	4	PIH1D2	11	111941252	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	55703884	111941252	23065264	31	37129											
KRT3	3850	broad.mit.edu	37	chr12	53185104	53185104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgccaggtcatccttcGcctgctgtagagcagcctgc	12	16	1	1	rs201927015		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:53185104G>A	ENST00000417996.2	-	7	1495	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCATCCTTCGCCTGCTGTAG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20940	0.0		0.0	False		,,,				2504	0.0					ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1420-1422)gCg>gTg		keratin 3		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	87	84	85		1421	4.5	1	12		85	0,8600		0,0,4300	yes	missense	KRT3	NM_057088.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	474/629	53185104	2,13004	2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185104G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1421C>T	12.37:g.53185104G>A	ENSP00000413479:p.Ala474Val					KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			7	1495	-			474			Coil 2.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1421C>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050104	0.75846	4.54E-4	0.0	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.82433	-1.61;-1.61	4.53	4.53	0.55603	Filament (1);	0.000000	0.42420	D	0.000709	D	0.90283	0.6961	M	0.88241	2.94	0.40875	D	0.983942	D	0.71674	0.998	P	0.58820	0.846	D	0.92184	0.5754	10	0.87932	D	0	.	12.738	0.57236	0.0:0.0:0.7946:0.2054	.	474	P12035	K2C3_HUMAN	V	474	ENSP00000413479:A474V;ENSP00000312206:A474V	ENSP00000312206:A474V	A	-	2	0	KRT3	51471371	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.548000	0.36201	2.516000	0.84829	0.561000	0.74099	GCG		0.612	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		5	102	0	0	0	1	0	5	102					A	53185104	G	A	53185104	3	1	436	1	0	0	0	0	1	0	0	0	8466	1087	38	1	477	1	KRT3	12	53185104	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		53185104	80666791	32	37130											
DNAH10	196385	broad.mit.edu	37	chr12	124364299	124364299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacgaaggagaaccacGcatttatgaagacatccagg	10	10	1	3	rs376242111	byFrequency	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:124364299G>A	ENST00000409039.3	+	49	8256	c.8231G>A	c.(8230-8232)cGc>cAc	p.R2744H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2744					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.R2744H(1)|p.R1336H(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)		GGAGAACCACGCATTTATGAA	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		17033	0.0		0.0	False		,,,				2504	0.002					ENST00000409039.3																			2	Substitution - Missense(2)	p.R2744H(1)|p.R1336H(1)	prostate(2)	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						c.(8230-8232)cGc>cAc		dynein, axonemal, heavy chain 10		G	HIS/ARG	1,4129		0,1,2064	235	228	230		8231	5.8	0.1	12		230	0,8396		0,0,4198	no	missense	DNAH10	NM_207437.3	29	0,1,6262	AA,AG,GG		0.0,0.0242,0.0080	possibly-damaging	2744/4472	124364299	1,12525	2065	4198	6263	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124364299G>A	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.8231G>A	12.37:g.124364299G>A	ENSP00000386770:p.Arg2744His						p.R2744H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	49	8256	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2744					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8231G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877175	0.72180	2.42E-4	0.0	ENSG00000197653	ENST00000409039	T	0.25579	1.79	5.76	5.76	0.90799	.	0.093211	0.41097	U	0.000959	T	0.48187	0.1486	M	0.93550	3.43	0.80722	D	1	D	0.53885	0.963	B	0.43728	0.429	T	0.65446	-0.6166	10	0.66056	D	0.02	.	19.9616	0.97254	0.0:0.0:1.0:0.0	.	2744	Q8IVF4	DYH10_HUMAN	H	2744	ENSP00000386770:R2744H	ENSP00000386770:R2744H	R	+	2	0	DNAH10	122930252	1.000000	0.71417	0.050000	0.19076	0.020000	0.10135	9.641000	0.98458	2.724000	0.93272	0.561000	0.74099	CGC		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	250	0	0	0	1	0	5	250					A	124364299	G	A	124364299	3	1	436	1	0	0	0	0	1	0	0	0	4598	1087	38	1	8425	1	DNAH10	12	124364299	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	71179195	124364299	9487596	33	37131											
MYH7	4625	broad.mit.edu	37	chr14	23886516	23886516	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatacttctgcttccaCtcggccaggatctgcccggg	9	16	3	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr14:23886516C>T	ENST00000355349.3	-	32	4527	c.4365G>A	c.(4363-4365)gaG>gaA	p.E1455E	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1455					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)		TCTGCTTCCACTCGGCCAGGA	0.622																																						ENST00000355349.3																			0				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						c.(4363-4365)gaG>gaA		myosin, heavy chain 7, cardiac muscle, beta							60	60	60					14																	23886516		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886516C>T	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.4365G>A	14.37:g.23886516C>T							p.E1455E	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4527	-	all_cancers(95;2.54e-05)		1455					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4365G>A	CCDS9601.1																																																																																				0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	81	0	0	0	1	0	7	81					T	23886516	C	T	23886516	2	4	436	1	0	0	0	0	0	0	0	1	10039	564	20	2		2	MYH7	14	23886516	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		23886516	83463024	34	37132											
RFX7	64864	broad.mit.edu	37	chr15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcttctggattttccGttgcaactgctgtttagcat	8	10	2	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:56390461G>A	ENST00000559447.2	-	8	905	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	RFX7_ENST00000422057.1_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000423270.1_Missense_Mutation_p.R309W			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(925-927)Cgg>Tgg		regulatory factor X, 7							104	98	100					15																	56390461		1865	4116	5981	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56390461G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.634C>T	15.37:g.56390461G>A	ENSP00000453281:p.Arg212Trp					RFX7_ENST00000559447.2_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000422057.1_Missense_Mutation_p.R212W	p.R309W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			8	924	-			212					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786703	0.70337	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.60672	0.2;0.17;0.18	5.54	3.61	0.41365	.	0.000000	0.64402	D	0.000004	T	0.62527	0.2435	N	0.24115	0.695	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.65829	-0.6073	10	0.87932	D	0	-14.9807	13.0385	0.58885	0.0:0.0:0.5759:0.4241	.	212;212	Q2KHR2;C9JU50	RFX7_HUMAN;.	W	212;309;309	ENSP00000387504:R212W;ENSP00000313299:R309W;ENSP00000397644:R309W	ENSP00000313299:R309W	R	-	1	2	RFX7	54177753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.774000	0.47694	0.765000	0.33221	0.655000	0.94253	CGG		0.438	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		17	27	0	0	0	1	0	17	27					A	56390461	G	A	56390461	3	1	436	1	0	0	0	0	1	0	0	0	13268	1144	40	1	3465	1	RFX7	15	56390461	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		56390461	46140931	35	37133											
GCNT3	9245	broad.mit.edu	37	chr15	59911450	59911450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgggccacccttcagcGtgcacggtggatgcctggct	13	15	2	0	rs142393489		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:59911450G>A	ENST00000396065.1	+	3	1461	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	338					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCAGCGTGCACGGTGG	0.507																																						ENST00000396065.1																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1012-1014)cGt>cAt		glucosaminyl (N-acetyl) transferase 3, mucin type							120	111	114					15																	59911450		2190	4290	6480	SO:0001583	missense	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911450G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1013G>A	15.37:g.59911450G>A	ENSP00000379377:p.Arg338His					GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN			3	1461	+			338						Missense_Mutation	SNP	ENST00000396065.1	37	c.1013G>A	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991162	0.93106	.	.	ENSG00000140297	ENST00000396065	T	0.11277	2.79	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27054	-1.0085	10	0.49607	T	0.09	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	338	O95395	GCNT3_HUMAN	H	338	ENSP00000379377:R338H	ENSP00000379377:R338H	R	+	2	0	GCNT3	57698742	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.595000	0.87683	0.655000	0.94253	CGT		0.507	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		11	139	0	0	0	1	0	11	139					A	59911450	G	A	59911450	3	1	436	1	0	0	0	0	1	0	0	0	6302	1145	40	1	1015	1	GCNT3	15	59911450	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	3520989	59911450	42619942	36	37134											
IL16	3603	broad.mit.edu	37	chr15	81558108	81558108	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagtaacaggaagtccctctCtcaacaattggactgtccag	8	12	2	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:81558108C>G	ENST00000302987.4	+	3	530	c.530C>G	c.(529-531)tCt>tGt	p.S177C	IL16_ENST00000394660.2_Missense_Mutation_p.S177C			Q14005	IL16_HUMAN	interleukin 16	177					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCCCTCTCTCAACAATTG	0.512											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(529-531)tCt>tGt		interleukin 16							43	40	41					15																	81558108		1895	4123	6018	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81558108C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.530C>G	15.37:g.81558108C>G	ENSP00000302935:p.Ser177Cys		OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	IL16_ENST00000302987.4_Missense_Mutation_p.S177C	p.S177C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			4	890	+			177					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.530C>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576437	0.45902	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.13307	2.61;2.6	4.45	4.45	0.53987	.	0.000000	0.41938	D	0.000800	T	0.35885	0.0947	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.14035	-1.0487	10	0.66056	D	0.02	.	16.0476	0.80731	0.0:1.0:0.0:0.0	.	177;177	Q14005;Q14005-2	IL16_HUMAN;.	C	177	ENSP00000378155:S177C;ENSP00000302935:S177C	ENSP00000302935:S177C	S	+	2	0	IL16	79345163	1.000000	0.71417	0.702000	0.30337	0.051000	0.14879	5.741000	0.68638	2.296000	0.77279	0.650000	0.86243	TCT		0.512	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		14	44	0	0	0	1	0	14	44					G	81558108	C	G	81558108	3	3	436	1	0	0	0	0	1	0	0	0	7633	913	32	4	540	4	IL16	15	81558108	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	21646658	81558108	20973284	37	37135											
PDP2	57546	broad.mit.edu	37	chr16	66919758	66919758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactcagaatcaatcggtgCatattacaaggggggttaag	11	6	2	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:66919758C>T	ENST00000311765.2	+	2	1905	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	524					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)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCAATCGGTGCATATTACAAG	0.438																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(1570-1572)gCa>gTa		pyruvate dehyrogenase phosphatase catalytic subunit 2							63	64	64					16																	66919758		2160	4201	6361	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919758C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	30263	protein-coding gene	gene with protein product	"protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1571C>T	16.37:g.66919758C>T	ENSP00000309548:p.Ala524Val					PDP2_ENST00000568720.1_Intron	p.A524V	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1905	+		Ovarian(137;0.0563)	524					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.1571C>T	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549990	0.27652	.	.	ENSG00000172840	ENST00000311765	T	0.45276	0.9	5.78	4.75	0.60458	.	1.029010	0.07748	N	0.948177	T	0.33469	0.0864	L	0.34521	1.04	0.09310	N	1	B	0.26400	0.148	B	0.24006	0.05	T	0.07635	-1.0762	10	0.38643	T	0.18	-3.6192	8.7398	0.34550	0.1655:0.7312:0.0:0.1033	.	524	Q9P2J9	PDP2_HUMAN	V	524	ENSP00000309548:A524V	ENSP00000309548:A524V	A	+	2	0	PDP2	65477259	0.006000	0.16342	0.222000	0.23844	0.780000	0.44128	1.992000	0.40737	2.745000	0.94114	0.655000	0.94253	GCA		0.438	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		19	80	0	0	0	1	0	19	80					T	66919758	C	T	66919758	3	4	436	1	0	0	0	0	1	0	0	0	11686	710	25	2	1573	2	PDP2	16	66919758	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		66919758	23434995	38	37136											
TP53	7157	broad.mit.edu	37	chr17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagaagatgacaggggcCaggagggggctggtgcaggg	22	6	0	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:7579415C>T	ENST00000269305.4	-	4	461	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (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.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	TGACAGGGGCCAGGAGGGGGC	0.632		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		25	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Nonsense(7)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(7)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|prostate(1)|liver(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						c.(271-273)tGg>tAg	Other conserved DNA damage response genes	tumor protein p53							44	50	48					17																	7579415		2202	4299	6501	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579415C>T	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.272G>A	17.37:g.7579415C>T	ENSP00000269305:p.Trp91*	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)				TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	404	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	91		W -> C (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.272G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911071	0.72983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.08	4.08	0.47627	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	14.5887	0.68347	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	2	0	TP53	7520140	0.997000	0.39634	0.998000	0.56505	0.633000	0.38033	-0.143000	0.10296	2.561000	0.86390	0.561000	0.74099	TGG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		84	14	0	0	0	1	0	84	14					T	7579415	C	T	7579415	4	4	436	1	0	0	0	0	0	1	0	0	16378	595	21	2	1030	2	TP53	17	7579415	Nonsense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		7579415	73615795	39	37137											
ZNF287	57336	broad.mit.edu	37	chr17	16466534	16466534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatcacagttggtctgTacactgtaagtcctgttcag	11	8	3	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:16466534T>C	ENST00000395824.1	-	5	1258	c.641A>G	c.(640-642)tAc>tGc	p.Y214C	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	207	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTTGGTCTGTACACTGTAAG	0.393																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(640-642)tAc>tGc		zinc finger protein 287							69	71	70					17																	16466534		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16466534T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.641A>G	17.37:g.16466534T>C	ENSP00000379168:p.Tyr214Cys					ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C	p.Y214C			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	5	1258	-			207			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.641A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580790	0.46006	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.00801	5.68;5.68	4.37	4.37	0.52481	Krueppel-associated box (3);	0.000000	0.43747	D	0.000524	T	0.01387	0.0045	N	0.03917	-0.325	0.35394	D	0.791019	D	0.76494	0.999	D	0.80764	0.994	T	0.74691	-0.3580	10	0.42905	T	0.14	.	10.2753	0.43506	0.0:0.0:0.0:1.0	.	207	Q9HBT7	ZN287_HUMAN	C	214	ENSP00000379169:Y214C;ENSP00000379168:Y214C	ENSP00000379168:Y214C	Y	-	2	0	ZNF287	16407259	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.192000	0.32150	2.195000	0.70347	0.528000	0.53228	TAC		0.393	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			5	100	0	0	0	1	0	5	100					C	16466534	T	C	16466534	3	2	436	1	0	0	0	0	1	0	0	0	17822	1638	57	3	1652	3	ZNF287	17	16466534	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	8887119	16466534	64728676	40	37138											
CDH19	28513	broad.mit.edu	37	chr18	64176405	64176405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggattccattgtcggcaAttaagatggagatgtagaag	13	5	0	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr18:64176405A>G	ENST00000262150.2	-	11	1947	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1827	Cadherin 5. {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)				ATTGTCGGCAATTAAGATGGA	0.428																																						ENST00000262150.2																			0				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						c.(1654-1656)aTt>aCt		cadherin 19, type 2							164	148	153					18																	64176405		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64176405A>G	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	ENST00000262150.2:c.1655T>C	18.37:g.64176405A>G	ENSP00000262150:p.Ile552Thr					CDH19_ENST00000540086.1_Intron	p.I552T	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			11	1947	-		Esophageal squamous(42;0.0132)	552			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1655T>C	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136243	0.77662	.	.	ENSG00000071991	ENST00000262150	T	0.60424	0.19	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.190028	0.46145	D	0.000307	T	0.75788	0.3897	M	0.84326	2.69	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.80450	-0.1377	10	0.72032	D	0.01	.	15.1005	0.72273	1.0:0.0:0.0:0.0	.	552	Q9H159	CAD19_HUMAN	T	552	ENSP00000262150:I552T	ENSP00000262150:I552T	I	-	2	0	CDH19	62327385	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.672000	0.91181	2.032000	0.59987	0.477000	0.44152	ATT		0.428	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		27	84	0	0	0	1	0	27	84					G	64176405	A	G	64176405	3	3	436	1	0	0	0	0	1	0	0	0	3104	101	4	3	671	3	CDH19	18	64176405	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		64176405	13900843	41	37139											
FBXO27	126433	broad.mit.edu	37	chr19	39517588	39517588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagaacagtctggttggcGtctagaagttggacgaggag	15	6	3	2	rs552069426		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000509137.2_Silent_p.D210D|FBXO27_ENST00000600828.1_Silent_p.D209D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		17717	0.001		0.0	False		,,,				2504	0.0					ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(628-630)gaC>gaT		F-box protein 27							187	173	178					19																	39517588		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517588G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.630C>T	19.37:g.39517588G>A						FBXO27_ENST00000600828.1_Silent_p.D209D|FBXO27_ENST00000509137.2_Silent_p.D210D	p.D210D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	749	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		210			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.630C>T	CCDS12527.1																																																																																				0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			6	139	0	0	0	1	0	6	139					A	39517588	G	A	39517588	2	1	436	1	0	0	0	0	0	0	0	1	5737	1136	40	1		1	FBXO27	19	39517588	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		39517588	19611395	42	37140											
BRWD1	54014	broad.mit.edu	37	chr21	40570809	40570809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagttcagatttcctgaaaTtgggttcatttccattttat	6	7	2	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr21:40570809T>C	ENST00000333229.2	-	40	5860	c.5533A>G	c.(5533-5535)Att>Gtt	p.I1845V	BRWD1_ENST00000342449.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1845					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)				TTTCCTGAAATTGGGTTCATT	0.358																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				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						c.(5533-5535)Att>Gtt		bromodomain and WD repeat domain containing 1							131	129	129					21																	40570809		2202	4300	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40570809T>C	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.5533A>G	21.37:g.40570809T>C	ENSP00000330753:p.Ile1845Val					BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000333229.2_Missense_Mutation_p.I1845V	p.I1845V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5611	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1845					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5533A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	6.717	0.501011	0.12822	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.44083	0.93;0.93;0.93	5.48	0.623	0.17654	.	1.222240	0.05812	N	0.614197	T	0.17152	0.0412	N	0.04355	-0.22	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21690	-1.0238	10	0.05959	T	0.93	-0.25	4.6941	0.12795	0.0:0.2246:0.1641:0.6112	.	1845;1845	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	V	1845	ENSP00000330753:I1845V;ENSP00000344333:I1845V;ENSP00000370178:I1845V	ENSP00000330753:I1845V	I	-	1	0	BRWD1	39492679	0.000000	0.05858	0.000000	0.03702	0.741000	0.42261	-0.198000	0.09505	0.073000	0.16731	0.533000	0.62120	ATT		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	143	0	0	0	1	0	5	143					C	40570809	T	C	40570809	3	2	436	1	0	0	0	0	1	0	0	0	1525	1493	52	3	1680	3	BRWD1	21	40570809	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		40570809	7559086	43	37141											
ATRX	546	broad.mit.edu	37	chrX	76938678	76938679	+	Frame_Shift_Del	DEL	TT	TT	-													tttctcactggaactgatagTttttgtttctccttaactgt							TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76938678_76938679delTT	ENST00000373344.5	-	9	2283_2284	c.2069_2070delAA	c.(2068-2070)aaafs	p.K690fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	690					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						GAACTGATAGTTTTTGTTTCTC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2068-2070)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938678_76938679delTT	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.2069_2070delAA	X.37:g.76938680_76938681delTT	ENSP00000362441:p.Lys690fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	p.K690fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2283_2284	-			690					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2069_2070delAA	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		128	99						128	99	---	---	---	---	-	76938679	TT	-	76938678	7	5	436	1	0	1	0	1	0	0	0	0	1208	1722	60	0	5516	0	ATRX	23	76938678	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WO-01A-21D-A34A-08		76938678	78331882	44	37142											
ATRX	546	broad.mit.edu	37	chrX	76939959	76939959	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgacaaatgtagcaataCcattggttgttttcatccat	9	7	1	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76939959C>T	ENST00000373344.5	-	9	1003	c.789G>A	c.(787-789)tgG>tgA	p.W263*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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.W263*(1)|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						TGTAGCAATACCATTGGTTGT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		2	Substitution - Nonsense(1)|Unknown(1)	p.W263*(1)|p.?(1)	central_nervous_system(1)|bone(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						c.(787-789)tgG>tgA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						160	148	152					X																	76939959		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939959C>T	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.789G>A	X.37:g.76939959C>T	ENSP00000362441:p.Trp263*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*	p.W263*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1003	-			263			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.789G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	38	6.856805	0.97889	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0559	18.4456	0.90682	0.0:1.0:0.0:0.0	.	.	.	.	X	263;225;219	.	ENSP00000362441:W263X	W	-	3	0	ATRX	76826615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.298000	0.77334	0.513000	0.50165	TGG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	173	0	0	0	1	0	16	173					T	76939959	C	T	76939959	4	4	436	1	0	0	0	0	0	1	0	0	1208	508	18	2	6797	2	ATRX	23	76939959	Nonsense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	1281	76939959	78330601	45	37143											
DACH2	117154	broad.mit.edu	37	chrX	85404113	85404114	+	Splice_Site	DEL	GT	GT	-													accgattgcaccaatgccagGtgagacactcgtttcttggc							TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:85404113_85404114delGT	ENST00000373125.4	+	1	488		c.e1+1		DACH2_ENST00000373131.1_Splice_Site	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAATGCCAGGTGAGACACTCG	0.535																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.e1+1		dachshund homolog 2 (Drosophila)																																				SO:0001630	splice_region_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404113_85404114delGT	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.488+1GT>-	X.37:g.85404113_85404114delGT						DACH2_ENST00000373125.4_Splice_Site		NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	651	+								B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Splice_Site	DEL	ENST00000373125.4	37		CCDS14455.1																																																																																				0.535	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	Intron	4	5						4	5	---	---	---	---	-	85404114	GT	-	85404113	8	5	436	1	0	1	0	1	0	0	1	0	4221	1275	44	0	491	0	DACH2	23	85404113	Splice_Site	DEL	GT	TCGA-S9-A6WO-01A-21D-A34A-08	8464154	85404113	69866447	46	37144											
ZMAT1	84460	broad.mit.edu	37	chrX	101138846	101138846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaagagaggtgcttgTaaacttcagattctacactg	9	7	3	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:101138846T>C	ENST00000372782.3	-	7	1600	c.1553A>G	c.(1552-1554)tAc>tGc	p.Y518C	ZMAT1_ENST00000458570.1_Missense_Mutation_p.Y347C|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	518						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						GAGGTGCTTGTAAACTTCAGA	0.413																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1552-1554)tAc>tGc		zinc finger, matrin-type 1							145	120	128					X																	101138846		2202	4300	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138846T>C	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.1553A>G	X.37:g.101138846T>C	ENSP00000361868:p.Tyr518Cys					ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.Y347C	p.Y518C	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1600	-			347					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1553A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	4.269	0.048975	0.08243	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27402	2.29;2.29;1.67	4.37	1.84	0.25277	.	1.090020	0.07011	N	0.825139	T	0.28001	0.0690	M	0.63843	1.955	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.37220	-0.9715	10	0.44086	T	0.13	0.1648	1.0851	0.01650	0.1886:0.1074:0.1917:0.5123	.	518	Q5H9K5	ZMAT1_HUMAN	C	518;518;347	ENSP00000361868:Y518C;ENSP00000437529:Y518C;ENSP00000413044:Y347C	ENSP00000361868:Y518C	Y	-	2	0	ZMAT1	101025502	0.002000	0.14202	0.001000	0.08648	0.629000	0.37895	0.426000	0.21363	0.239000	0.21243	0.486000	0.48141	TAC		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	48	0	0	0	1	0	4	48					C	101138846	T	C	101138846	3	2	436	1	0	0	0	0	1	0	0	0	17688	1638	57	3	367	3	ZMAT1	23	101138846	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	15734733	101138846	54131714	47	37145											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-													ctcacaccaatcttttcttcTatgagttgccgagcatagtc					rs369776228		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1327-1329)afs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428470_78428471delTA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	p.I443fs			Q96AE4	FUBP1_HUMAN			14	1415_1416	-			443			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1328_1329delTA	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		44	17						44	17	---	---	---	---	-	78428471	TA	-	78428470	7	5	437	1	0	1	0	1	0	0	0	0	6092	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-S9-A6WP-01A-12D-A34A-08		78428470	170822151	1	37146											
SETDB1	9869	broad.mit.edu	37	chr1	150935061	150935062	+	Splice_Site	DEL	AG	AG	-													tcattccttcccctcccattAgagttactgaaagctctcga							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:150935061_150935062delAG	ENST00000271640.5	+	18	3348		c.e18-1		CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Splice_Site|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						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)			CCCTCCCATTAGAGTTACTGAA	0.47																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.e18-1		SET domain, bifurcated 1																																				SO:0001630	splice_region_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150935061_150935062delAG	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.3159-1AG>-	1.37:g.150935063_150935064delAG						SETDB1_ENST00000368969.4_Splice_Site		NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		18	3348	+	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)							A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	DEL	ENST00000271640.5	37		CCDS44217.1																																																																																				0.47	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	13	127						13	127	---	---	---	---	-	150935062	AG	-	150935061	8	5	437	1	0	1	0	1	0	0	1	0	14138	434	15	0	3223	0	SETDB1	1	150935061	Splice_Site	DEL	AG	TCGA-S9-A6WP-01A-12D-A34A-08	72506591	150935061	98315560	2	37147											
FAM78B	149297	broad.mit.edu	37	chr1	166039755	166039755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccaccagccaggtcGtgaaactttggtctctcttg	10	12	3	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:166039755G>A	ENST00000338353.3	-	3	1098	c.509C>T	c.(508-510)aCg>aTg	p.T170M	FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	170										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAGCCAGGTCGTGAAACTTTG	0.507																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(508-510)aCg>aTg		family with sequence similarity 78, member B							223	200	208					1																	166039755		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039755G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.509C>T	1.37:g.166039755G>A	ENSP00000339681:p.Thr170Met					FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M	p.T170M			Q5VT40	FA78B_HUMAN			3	1098	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		170					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.509C>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322292	0.60634	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.63843	1.955	0.50813	D	0.999892	D	0.54397	0.966	P	0.45681	0.49	T	0.56408	-0.7984	8	0.44086	T	0.13	-13.1285	17.6471	0.88151	0.0:0.0:1.0:0.0	.	170	Q5VT40	FA78B_HUMAN	M	170	.	ENSP00000339681:T170M	T	-	2	0	FAM78B	164306379	1.000000	0.71417	0.964000	0.40570	0.962000	0.63368	5.556000	0.67307	2.758000	0.94735	0.655000	0.94253	ACG		0.507	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		9	165	0	0	0	1	0	9	165					A	166039755	G	A	166039755	3	1	437	1	0	0	0	0	1	0	0	0	5627	1145	40	1	280	1	FAM78B	1	166039755	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	15104694	166039755	83210866	3	37148											
KCNT2	343450	broad.mit.edu	37	chr1	196227362	196227364	+	In_Frame_Del	DEL	TTT	TTT	-													gacccaagtgtttcattctaTttttcacaagttcagcaagc							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:196227362_196227364delTTT	ENST00000294725.9	-	26	4086_4088	c.3171_3173delAAA	c.(3169-3174)aaaaat>aat	p.K1057del	KCNT2_ENST00000367431.4_In_Frame_Del_p.K991del|KCNT2_ENST00000367433.5_In_Frame_Del_p.K1033del|KCNT2_ENST00000609185.1_In_Frame_Del_p.K990del|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1057					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCATTCTATTTTTCACAAGTT	0.389																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3097-3102)aat>aa		potassium channel, subfamily T, member 2																																				SO:0001651	inframe_deletion	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227362_196227364delTTT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3171_3173delAAA	1.37:g.196227362_196227364delTTT	ENSP00000294725:p.Lys1057del					KCNT2_ENST00000294725.8_In_Frame_Del_p.KN1057del|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_In_Frame_Del_p.KN991del|KCNT2_ENST00000451324.2_3'UTR	p.KN1033del			Q6UVM3	KCNT2_HUMAN			25	3200_3202	-			1057					Q3SY59|Q5VTN1|Q6ZMT3	In_Frame_Del	DEL	ENST00000294725.9	37	c.3099_3101delAAA	CCDS1384.1																																																																																				0.389	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		11	146						11	146	---	---	---	---	-	196227364	TTT	-	196227362	7	5	437	1	0	1	0	1	0	0	0	0	8092	1493	52	0	246	0	KCNT2	1	196227362	In_Frame_Del	DEL	TTT	TCGA-S9-A6WP-01A-12D-A34A-08	30187607	196227362	53023259	4	37149											
USH2A	7399	broad.mit.edu	37	chr1	215990472	215990472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggataccatgttttccatAggagatcatatccaagaatg	8	7	1	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:215990472A>G	ENST00000307340.3	-	48	9823	c.9437T>C	c.(9436-9438)cTa>cCa	p.L3146P	USH2A_ENST00000366943.2_Missense_Mutation_p.L3146P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3146	Fibronectin type-III 18. {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)		TGTTTTCCATAGGAGATCATA	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(9436-9438)cTa>cCa		Usher syndrome 2A (autosomal recessive, mild)							128	122	124					1																	215990472		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990472A>G	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.9437T>C	1.37:g.215990472A>G	ENSP00000305941:p.Leu3146Pro	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L3146P	p.L3146P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9823	-			3146			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9437T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377089	0.61735	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55413	0.52;0.52	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35407	N	0.003236	T	0.67078	0.2855	M	0.73962	2.25	0.58432	D	0.999997	D	0.71674	0.998	P	0.61940	0.896	T	0.67284	-0.5709	10	0.36615	T	0.2	.	11.5207	0.50549	0.8504:0.1496:0.0:0.0	.	3146	O75445	USH2A_HUMAN	P	3146	ENSP00000305941:L3146P;ENSP00000355910:L3146P	ENSP00000305941:L3146P	L	-	2	0	USH2A	214057095	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.504000	0.53347	2.140000	0.66376	0.459000	0.35465	CTA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		55	71	0	0	0	1	0	55	71					G	215990472	A	G	215990472	3	3	437	1	0	0	0	0	1	0	0	0	17033	420	15	3	6271	3	USH2A	1	215990472	Missense_Mutation	SNP	A	TCGA-S9-A6WP-01A-12D-A34A-08	19763110	215990472	33260149	5	37150											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	9	11	0	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					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)	TTTTCCAAGACGCAGCATGTG	0.468																																						ENST00000409855.1																			0				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						c.(4072-4074)cGt>cAt		sodium channel, voltage-gated, type VII, alpha subunit							119	113	115					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	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.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His						p.R1358H	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4199	-			1358						Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			15	97	0	0	0	1	0	15	97					T	167263066	C	T	167263066	3	4	437	1	0	0	0	0	1	0	0	0	13923	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		167263066	75936307	6	37151											
MYO3B	140469	broad.mit.edu	37	chr2	171073874	171073874	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgtctgcggagaaacacatCtgttggcaccccgttctgga	11	12	3	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:171073874C>T	ENST00000408978.4	+	6	715	c.572C>T	c.(571-573)tCt>tTt	p.S191F	MYO3B_ENST00000334231.6_Missense_Mutation_p.S200F|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AGAAACACATCTGTTGGCACC	0.448																																						ENST00000334231.6																			0				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						c.(598-600)tCt>tTt		myosin IIIB							251	242	245					2																	171073874		1920	4132	6052	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171073874C>T		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.572C>T	2.37:g.171073874C>T	ENSP00000386213:p.Ser191Phe					MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F|MYO3B_ENST00000408978.4_Missense_Mutation_p.S191F|MYO3B_ENST00000602629.1_3'UTR	p.S200F			Q8WXR4	MYO3B_HUMAN			6	599	+			191			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.599C>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736429	0.30774	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	6.06	6.06	0.98353	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	0.14013	0.0339	N	0.00572	-1.36	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.83275	0.996;0.992;0.991;0.995	T	0.64491	-0.6395	10	0.62326	D	0.03	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	191;191;191;191	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	F	191;191;190;200;200	ENSP00000386497:S191F;ENSP00000386213:S191F;ENSP00000446237:S200F;ENSP00000335100:S200F	ENSP00000314213:S190F	S	+	2	0	MYO3B	170782120	1.000000	0.71417	0.891000	0.34965	0.665000	0.39181	7.388000	0.79795	2.882000	0.98803	0.655000	0.94253	TCT		0.448	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			9	294	0	0	0	1	0	9	294					T	171073874	C	T	171073874	3	4	437	1	0	0	0	0	1	0	0	0	10077	913	32	2	594	2	MYO3B	2	171073874	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	3810808	171073874	72125499	7	37152											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	66	0	0	0	1	0	42	66					T	209113112	C	T	209113112	3	4	437	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	38039238	209113112	34086261	8	37153											
HDAC11	79885	broad.mit.edu	37	chr3	13538268	13538268	+	Frame_Shift_Del	DEL	C	C	-													gttgctaccatcacagaaatCccccccgttatcttcctccc							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:13538268delC	ENST00000295757.3	+	4	468	c.285delC	c.(283-285)atcfs	p.I95fs	HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|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)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCACAGAAATCCCCCCCGTTA	0.577											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(283-285)atfs		histone deacetylase 11																																				SO:0001589	frameshift_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13538268delC	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.285delC	3.37:g.13538268delC	ENSP00000295757:p.Ile95fs		OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000522202.1_Intron	p.I95fs	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN			4	468	+			95			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Frame_Shift_Del	DEL	ENST00000295757.3	37	c.285delC	CCDS2615.1																																																																																				0.577	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		19	43						19	43	---	---	---	---	-	13538268	C	-	13538268	7	5	437	1	0	1	0	1	0	0	0	0	7006	845	30	0	299	0	HDAC11	3	13538268	Frame_Shift_Del	DEL	C	TCGA-S9-A6WP-01A-12D-A34A-08		13538268	184484162	9	37154											
VILL	50853	broad.mit.edu	37	chr3	38043319	38043319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcccccccacttcctcGccatcttccagggccagctg	9	20	1	0	rs377050534		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:38043319G>A	ENST00000283713.6	+	13	1713	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	VILL_ENST00000383759.2_Missense_Mutation_p.A483T|VILL_ENST00000465644.1_Missense_Mutation_p.A201T			O15195	VILL_HUMAN	villin-like	483					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCACTTCCTCGCCATCTTCCA	0.607																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1447-1449)Gcc>Acc		villin-like		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	123	103	110		1447	3.2	0.8	3		110	0,8600		0,0,4300	no	missense	VILL	NM_015873.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	483/857	38043319	1,13005	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043319G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1447G>A	3.37:g.38043319G>A	ENSP00000283713:p.Ala483Thr					VILL_ENST00000383759.2_Missense_Mutation_p.A483T|VILL_ENST00000465644.1_Missense_Mutation_p.A201T	p.A483T			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1713	+			483					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.1447G>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118257	0.77323	2.27E-4	0.0	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.17691	2.26;2.26;2.26	5.05	3.23	0.37069	.	0.097634	0.64402	D	0.000001	T	0.42810	0.1219	M	0.84683	2.71	0.40451	D	0.980141	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	T	0.43114	-0.9411	10	0.66056	D	0.02	-24.045	10.5136	0.44876	0.0744:0.1341:0.7915:0.0	.	469;483	O15195-2;O15195	.;VILL_HUMAN	T	483;483;469;201	ENSP00000283713:A483T;ENSP00000373266:A483T;ENSP00000422096:A201T	ENSP00000283713:A483T	A	+	1	0	VILL	38018323	1.000000	0.71417	0.806000	0.32338	0.645000	0.38454	5.639000	0.67868	0.633000	0.30452	-0.519000	0.04390	GCC		0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		14	42	0	0	0	1	0	14	42					A	38043319	G	A	38043319	3	1	437	1	0	0	0	0	1	0	0	0	17162	1087	38	1	1493	1	VILL	3	38043319	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	24505051	38043319	159979111	10	37155											
SERPINI2	5276	broad.mit.edu	37	chr3	167189539	167189539	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgataaagatccactgcaaaTtcggtatttttttgagctga	8	6	0	4			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:167189539T>C	ENST00000476257.1	-	3	382	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SERPINI2_ENST00000461846.1_Silent_p.E28E|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000264677.4_Silent_p.E28E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	28					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCACTGCAAATTCGGTATTTT	0.373																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(82-84)gaA>gaG		serpin peptidase inhibitor, clade I (pancpin), member 2							137	143	141					3																	167189539		2203	4300	6503	SO:0001819	synonymous_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189539T>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.84A>G	3.37:g.167189539T>C						SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000264677.4_Silent_p.E28E|SERPINI2_ENST00000461846.1_Silent_p.E28E	p.E28E			O75830	SPI2_HUMAN			3	382	-			28						Silent	SNP	ENST00000476257.1	37	c.84A>G	CCDS3200.1																																																																																				0.373	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		55	74	0	0	0	1	0	55	74					C	167189539	T	C	167189539	2	2	437	1	0	0	0	0	0	0	0	1	14119	1490	52	3		3	SERPINI2	3	167189539	Silent	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08	129146220	167189539	30832891	11	37156											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768348	140768348	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctaacaccggggaaatTactgttttaaatacattaga	6	7	1	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:140768348T>C	ENST00000519479.1	+	1	897	c.897T>C	c.(895-897)atT>atC	p.I299I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGGAAATTACTGTTTTAA	0.438																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(895-897)atT>atC									62	61	61					5																	140768348		1887	4115	6002	SO:0001819	synonymous_variant	0							g.chr5:140768348T>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.897T>C	5.37:g.140768348T>C						PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.I299I	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	897	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.897T>C	CCDS54928.1																																																																																				0.438	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		3	45	0	0	0	1	0	3	45					C	140768348	T	C	140768348	2	2	437	1	0	0	0	0	0	0	0	1	11565	1742	61	3		3	PCDHGB4	5	140768348	Silent	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		140768348	40146912	12	37157											
KCTD16	57528	broad.mit.edu	37	chr5	143586416	143586416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccacattgataagcatcCctcattccctcctgtggaaa	5	13	1	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:143586416C>T	ENST00000507359.3	+	2	1230	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	47	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.P47S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GATAAGCATCCCTCATTCCCT	0.473																																						ENST00000507359.2																			1	Substitution - Missense(1)	p.P47S(1)	skin(1)	large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(139-141)Cct>Tct		potassium channel tetramerization domain containing 16							77	72	74					5																	143586416		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586416C>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.139C>T	5.37:g.143586416C>T	ENSP00000426548:p.Pro47Ser					KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1230	+		all_hematologic(541;0.118)	47			BTB.		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.139C>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070114	0.76301	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.54071	0.59;0.59	5.55	5.55	0.83447	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73251	-0.4042	10	0.66056	D	0.02	.	19.5043	0.95108	0.0:1.0:0.0:0.0	.	47	Q68DU8	KCD16_HUMAN	S	47	ENSP00000424151:P47S;ENSP00000426548:P47S	ENSP00000426548:P47S	P	+	1	0	KCTD16	143566609	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.770000	0.85390	2.607000	0.88179	0.561000	0.74099	CCT		0.473	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		7	60	0	0	0	1	0	7	60					T	143586416	C	T	143586416	3	4	437	1	0	0	0	0	1	0	0	0	8103	623	22	2	141	2	KCTD16	5	143586416	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	2818068	143586416	37328844	13	37158											
DOCK2	1794	broad.mit.edu	37	chr5	169111328	169111328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcttcatgtctctctaCgaccccaacaagcaaacggt	7	14	4	0	rs374307327		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:169111328C>T	ENST00000256935.8	+	8	815	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	245					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)			TGTCTCTCTACGACCCCAACA	0.493																																						ENST00000256935.8																			0				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						c.(733-735)taC>taT		dedicator of cytokinesis 2		C		1,4405	2.1+/-5.4	0,1,2202	179	160	167		735	1.7	1	5		167	0,8600		0,0,4300	no	coding-synonymous	DOCK2	NM_004946.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/1831	169111328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169111328C>T	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.735C>T	5.37:g.169111328C>T							p.Y245Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	815	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	245					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.735C>T	CCDS4371.1																																																																																				0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	87	0	0	0	1	0	12	87					T	169111328	C	T	169111328	2	4	437	1	0	0	0	0	0	0	0	1	4687	547	19	1		1	DOCK2	5	169111328	Silent	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	25524912	169111328	11803932	14	37159											
ZNF292	23036	broad.mit.edu	37	chr6	87964919	87964920	+	Frame_Shift_Del	DEL	AA	AA	-													aagagagagataaaacagttAagagagaggggatttatatc							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr6:87964919_87964920delAA	ENST00000369577.3	+	8	1615_1616	c.1572_1573delAA	c.(1570-1575)ttaagafs	p.R525fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.R520fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	525						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)		TAAAACAGTTAAGAGAGAGGGG	0.406																																						ENST00000369577.3																			0				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						c.(1570-1575)ttgafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964919_87964920delAA	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.1572_1573delAA	6.37:g.87964919_87964920delAA	ENSP00000358590:p.Arg525fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.LR519fs	p.LR524fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1615_1616	+		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)	524					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1572_1573delAA	CCDS47457.1																																																																																				0.406	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		15	27						15	27	---	---	---	---	-	87964920	AA	-	87964919	7	5	437	1	0	1	0	1	0	0	0	0	17823	359	13	0	1602	0	ZNF292	6	87964919	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WP-01A-12D-A34A-08		87964919	83150148	15	37160											
NSUN5	55695	broad.mit.edu	37	chr7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-													ttggccaggtgcggccgcagCttcttctccgcacggaggag					rs201201543	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:72722449_72722451delCTT	ENST00000252594.6	-	2	208_210	c.193_195delAAG	c.(193-195)aagdel	p.K65del	NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000428206.1_In_Frame_Del_p.K65del			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	65					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)				GCGGCCGCAGCTTCTTCTCCGCA	0.66																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(193-195)del		NOP2/Sun domain family, member 5			,,,	4,4240		1,2,2119					,,,	3.2	1			42	6,8168		1,4,4082	no	coding,coding,coding,coding	NSUN5	NM_148956.2,NM_018044.3,NM_001168348.1,NM_001168347.1	,,,	2,6,6201	A1A1,A1R,RR		0.0734,0.0943,0.0805	,,,	,,,		10,12408				SO:0001651	inframe_deletion	55695						methyltransferase activity	g.chr7:72722449_72722451delCTT	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.193_195delAAG	7.37:g.72722452_72722454delCTT	ENSP00000252594:p.Lys65del					NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000252594.6_In_Frame_Del_p.K65del	p.K65del	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			2	206_208	-		Lung NSC(55;0.163)	65					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	In_Frame_Del	DEL	ENST00000252594.6	37	c.193_195delAAG	CCDS5547.1																																																																																				0.66	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		9	109						9	109	---	---	---	---	-	72722451	CTT	-	72722449	7	5	437	1	0	1	0	1	0	0	0	0	10681	796	28	0	1262	0	NSUN5	7	72722449	In_Frame_Del	DEL	CTT	TCGA-S9-A6WP-01A-12D-A34A-08		72722449	86416214	16	37161											
PEX1	5189	broad.mit.edu	37	chr7	92134081	92134081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgcaccgcatcaggaCtgtgctcatgttccgggaca	12	13	3	0	rs61750412		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:92134081C>T	ENST00000248633.4	-	12	2131	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	PEX1_ENST00000438045.1_Missense_Mutation_p.S357N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.S96N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	679			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGCATCAGGACTGTGCTCATG	0.517																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2035-2037)aGt>aAt		peroxisomal biogenesis factor 1							137	117	124					7																	92134081		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92134081C>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2036G>A	7.37:g.92134081C>T	ENSP00000248633:p.Ser679Asn					PEX1_ENST00000438045.1_Missense_Mutation_p.S357N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.S96N	p.S679N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		12	2131	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	679		Missing (in NALD).			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2036G>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467247	0.96257	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000541751	D;D;D	0.83075	-1.68;-1.68;-1.68	5.35	5.35	0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.327131	0.41396	D	0.000899	D	0.87625	0.6224	M	0.68317	2.08	0.47621	D	0.999475	P;P	0.38863	0.65;0.459	P;B	0.48738	0.588;0.388	D	0.86884	0.2044	10	0.49607	T	0.09	-3.0098	19.2529	0.93932	0.0:1.0:0.0:0.0	.	357;679	E9PE75;O43933	.;PEX1_HUMAN	N	357;679;96	ENSP00000410438:S357N;ENSP00000248633:S679N;ENSP00000438637:S96N	ENSP00000248633:S679N	S	-	2	0	PEX1	91972017	0.998000	0.40836	0.374000	0.26016	0.455000	0.32408	5.611000	0.67674	2.791000	0.96007	0.561000	0.74099	AGT		0.517	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		5	78	0	0	0	1	0	5	78					T	92134081	C	T	92134081	3	4	437	1	0	0	0	0	1	0	0	0	11735	565	20	2	1867	2	PEX1	7	92134081	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	19411632	92134081	67004582	17	37162											
MET	4233	broad.mit.edu	37	chr7	116380017	116380017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtttaggttgtggtttctcGatcaggaccatcaacccctc	9	11	3	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:116380017G>A	ENST00000318493.6	+	4	1593	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.R469Q|MET_ENST00000397752.3_Missense_Mutation_p.R469Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1405-1407)cGa>cAa		met proto-oncogene							233	209	216					7																	116380017		1857	4089	5946	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116380017G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1406G>A	7.37:g.116380017G>A	ENSP00000317272:p.Arg469Gln					MET_ENST00000436117.2_Missense_Mutation_p.R469Q|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.R469Q	p.R469Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		4	1606	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	469			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1406G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010765	0.93346	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11604	2.76;2.76;2.76	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.80508	2.5	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	0.998;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.11591	-1.0581	10	0.72032	D	0.01	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	469;469;469;469;469;469;469;469;469;469	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;P08581	.;.;.;.;.;.;.;.;.;MET_HUMAN	Q	469	ENSP00000380860:R469Q;ENSP00000317272:R469Q;ENSP00000410980:R469Q	ENSP00000317272:R469Q	R	+	2	0	MET	116167253	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.503000	0.81632	2.794000	0.96219	0.655000	0.94253	CGA		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	183	0	0	0	1	0	5	183					A	116380017	G	A	116380017	3	1	437	1	0	0	0	0	1	0	0	0	9485	1058	37	1	1416	1	MET	7	116380017	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	24245936	116380017	42758646	18	37163											
ACTR3B	57180	broad.mit.edu	37	chr7	152497701	152497703	+	In_Frame_Del	DEL	AGG	AGG	-													gatgaccttgactttttcatAggagatgaagccatcgataa							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:152497701_152497703delAGG	ENST00000256001.8	+	3	320_322	c.186_188delAGG	c.(184-189)atagga>ata	p.G63del	ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000377776.3_In_Frame_Del_p.G63del|ACTR3B_ENST00000397282.2_5'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	63						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTTTTTCATAGGAGATGAAGCC	0.399																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(184-189)ata>at		ARP3 actin-related protein 3 homolog B (yeast)																																				SO:0001651	inframe_deletion	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152497701_152497703delAGG		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.186_188delAGG	7.37:g.152497701_152497703delAGG	ENSP00000256001:p.Gly63del					ACTR3B_ENST00000377776.3_In_Frame_Del_p.IG62del|ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR	p.IG62del	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	3	320_322	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	62					A8MTG1|B4DFW4|Q7Z526|Q96BT2	In_Frame_Del	DEL	ENST00000256001.8	37	c.186_188delAGG	CCDS5934.1																																																																																				0.399	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		7	118						7	118	---	---	---	---	-	152497703	AGG	-	152497701	7	5	437	1	0	1	0	1	0	0	0	0	213	410	15	0	196	0	ACTR3B	7	152497701	In_Frame_Del	DEL	AGG	TCGA-S9-A6WP-01A-12D-A34A-08	36117684	152497701	6640962	19	37164											
POTEA	340441	broad.mit.edu	37	chr8	43173619	43173619	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagaagaaatgcagaaGcatggaagtaataatgtggg	14	2	0	4			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr8:43173619G>A	ENST00000522175.2	+	0	905							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATGCAGAAGCATGGAAGTA	0.358																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							144	140	141					8																	43173619		2198	4297	6495			340441							g.chr8:43173619G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173619G>A										Q6S8J7	POTEA_HUMAN			0	905	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.358	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		9	107	0	0	0	1	0	9	107					A	43173619	G	A	43173619	1	1	437	0	1	0	0	0	0	0	0	0	12261	962	34	2		2	POTEA	8	43173619	RNA	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		43173619	103190403	20	37165											
ENTPD7	57089	broad.mit.edu	37	chr10	101448501	101448501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgggaagattcgaccacGaggatggtgagtaatattgt	13	4	0	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr10:101448501G>A	ENST00000370489.4	+	7	881	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	235						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ATTCGACCACGAGGATGGTGA	0.363																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(703-705)Gag>Aag		ectonucleoside triphosphate diphosphohydrolase 7							303	297	299					10																	101448501		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101448501G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.703G>A	10.37:g.101448501G>A	ENSP00000359520:p.Glu235Lys						p.E235K	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	7	881	+		Colorectal(252;0.234)	235					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.703G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047825	0.36085	.	.	ENSG00000198018	ENST00000370489	T	0.11169	2.8	4.84	4.84	0.62591	.	0.179264	0.48767	D	0.000177	T	0.08044	0.0201	L	0.38953	1.18	0.53005	D	0.999966	B	0.32829	0.386	B	0.26202	0.067	T	0.06534	-1.0821	10	0.05620	T	0.96	-11.9973	16.3098	0.82864	0.0:0.0:1.0:0.0	.	235	Q9NQZ7	ENTP7_HUMAN	K	235	ENSP00000359520:E235K	ENSP00000359520:E235K	E	+	1	0	ENTPD7	101438491	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.537000	0.60643	2.509000	0.84616	0.557000	0.71058	GAG		0.363	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		15	210	0	0	0	1	0	15	210					A	101448501	G	A	101448501	3	1	437	1	0	0	0	0	1	0	0	0	5144	1059	37	1	725	1	ENTPD7	10	101448501	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		101448501	34086246	21	37166											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949792	45949792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgggaggctcaggccCcgtaccgtgtgcaatgggcg	18	12	1	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:45949792C>T	ENST00000531526.1	+	13	1930	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	607					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGCTCAGGCCCCGTACCGTGT	0.657																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1819-1821)Ccg>Tcg		glycosyltransferase-like 1B							107	107	107					11																	45949792		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45949792C>T		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1819C>T	11.37:g.45949792C>T	ENSP00000432869:p.Pro607Ser					GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S	p.P607S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	13	1930	+			607					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1819C>T	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851804	0.91355	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.75615	2.305	0.80722	D	1	D;D;B	0.63046	0.992;0.971;0.116	D;D;B	0.66351	0.943;0.916;0.224	T	0.43278	-0.9401	10	0.54805	T	0.06	-15.0533	19.5428	0.95281	0.0:1.0:0.0:0.0	.	576;576;607	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	S	576;607;607;607;576	ENSP00000431932:P576S;ENSP00000432869:P607S;ENSP00000385235:P607S;ENSP00000324570:P607S;ENSP00000445044:P576S	ENSP00000324570:P607S	P	+	1	0	GYLTL1B	45906368	1.000000	0.71417	0.993000	0.49108	0.684000	0.39900	7.482000	0.81143	2.610000	0.88304	0.561000	0.74099	CCG		0.657	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		73	116	0	0	0	1	0	73	116					T	45949792	C	T	45949792	3	4	437	1	0	0	0	0	1	0	0	0	6907	623	22	2	1865	2	GYLTL1B	11	45949792	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		45949792	89056724	22	37167											
OR9G1	390174	broad.mit.edu	37	chr11	56468109	56468109	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacaccccaaagatcctagtGacctgcatctctgaagacaa	6	13	1	4			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:56468109G>C	ENST00000312153.1	+	1	246	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	82						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)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(244-246)gtG>gtC		olfactory receptor, family 9, subfamily G, member 1							130	126	127					11																	56468109		2201	4294	6495	SO:0001819	synonymous_variant	390174							g.chr11:56468109G>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.246G>C	11.37:g.56468109G>C							p.V82V	NM_001005213.1	NP_001005213.1					1	246	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.246G>C	CCDS31536.1																																																																																				0.488	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		5	122	0	0	0	1	0	5	122					C	56468109	G	C	56468109	2	2	437	1	0	0	0	0	0	0	0	1	11250	1277	45	4		4	OR9G1	11	56468109	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	10518317	56468109	78538407	23	37168											
C2CD3	26005	broad.mit.edu	37	chr11	73806412	73806412	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaccatctctatatggatCtcaaagcagtgctccatcag	6	11	3	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:73806412C>T	ENST00000334126.7	-	17	3247	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E	C2CD3_ENST00000313663.7_Silent_p.E1007E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1007					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)					CTATATGGATCTCAAAGCAGT	0.433																																						ENST00000334126.7																			0				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						c.(3019-3021)gaG>gaA		C2 calcium-dependent domain containing 3							172	160	164					11																	73806412		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73806412C>T	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.3021G>A	11.37:g.73806412C>T						C2CD3_ENST00000313663.7_Silent_p.E1007E	p.E1007E			Q4AC94	C2CD3_HUMAN			17	3247	-	Breast(11;4.16e-06)		1007					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.3021G>A																																																																																					0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		10	110	0	0	0	1	0	10	110					T	73806412	C	T	73806412	2	4	437	1	0	0	0	0	0	0	0	1	2154	912	32	2		2	C2CD3	11	73806412	Silent	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	17338303	73806412	61200104	24	37169											
TMEM45B	120224	broad.mit.edu	37	chr11	129722547	129722547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcaattaggactttgttttCcgtcactggtaagagcaggg	12	8	1	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:129722547C>A	ENST00000524567.1	+	2	451	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	TMEM45B_ENST00000281441.3_Missense_Mutation_p.S57Y			Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACTTTGTTTTCCGTCACTGGT	0.468																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(169-171)tCc>tAc		transmembrane protein 45B							113	108	109					11																	129722547		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129722547C>A	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.170C>A	11.37:g.129722547C>A	ENSP00000436293:p.Ser57Tyr					TMEM45B_ENST00000524567.1_Missense_Mutation_p.S57Y	p.S57Y	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	258	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	57					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.170C>A	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178476	0.78564	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.35048	1.33;1.33	5.64	4.71	0.59529	.	0.305787	0.34411	N	0.003986	T	0.44117	0.1278	L	0.56769	1.78	0.38567	D	0.949853	P	0.44478	0.836	P	0.46510	0.519	T	0.52852	-0.8520	10	0.72032	D	0.01	-8.3338	15.1802	0.72952	0.0:0.8583:0.1417:0.0	.	57	Q96B21	TM45B_HUMAN	Y	57	ENSP00000281441:S57Y;ENSP00000436293:S57Y	ENSP00000281441:S57Y	S	+	2	0	TMEM45B	129227757	1.000000	0.71417	0.005000	0.12908	0.021000	0.10359	6.974000	0.76122	1.341000	0.45600	0.655000	0.94253	TCC		0.468	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		9	66	1	0	1.08611e-07	1	1.19259e-07	9	66					A	129722547	C	A	129722547	3	1	437	1	0	0	0	0	1	0	0	0	16167	855	30	4	172	4	TMEM45B	11	129722547	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	55916135	129722547	5283969	25	37170											
PRMT8	56341	broad.mit.edu	37	chr12	3649898	3649900	+	In_Frame_Del	DEL	GAG	GAG	-													tgtccaagctgctgaacccaGaggagatgacctcgagagat							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:3649898_3649900delGAG	ENST00000382622.3	+	2	592_594	c.202_204delGAG	c.(202-204)gagdel	p.E69del	PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	69					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)			GCTGAACCCAGAGGAGATGACCT	0.581																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(202-204)del		protein arginine methyltransferase 8																																				SO:0001651	inframe_deletion	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649898_3649900delGAG	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.202_204delGAG	12.37:g.3649901_3649903delGAG	ENSP00000372067:p.Glu69del					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del	p.E69del	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	592_594	+			69					B2RDP0|Q8TBJ8	In_Frame_Del	DEL	ENST00000382622.3	37	c.202_204delGAG	CCDS8521.2																																																																																				0.581	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		9	306						9	306	---	---	---	---	-	3649900	GAG	-	3649898	7	5	437	1	0	1	0	1	0	0	0	0	12542	943	33	0	208	0	PRMT8	12	3649898	In_Frame_Del	DEL	GAG	TCGA-S9-A6WP-01A-12D-A34A-08		3649898	130201997	26	37171											
MAP3K12	7786	broad.mit.edu	37	chr12	53875958	53875961	+	Frame_Shift_Del	DEL	TAGA	TAGA	-													tggattctctgagctgaaggTagatagtgactggcgcatgt							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:53875958_53875961delTAGA	ENST00000267079.2	-	14	2470_2473	c.2245_2248delTCTA	c.(2245-2250)tctaccfs	p.ST749fs	MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	749					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCTGAAGGTAGATAGTGACTGG	0.52											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2245-2250)ccfs		mitogen-activated protein kinase kinase kinase 12																																				SO:0001589	frameshift_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875958_53875961delTAGA	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2245_2248delTCTA	12.37:g.53875958_53875961delTAGA	ENSP00000267079:p.Ser749fs		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs	p.ST749fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			14	2470_2473	-			749					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL	ENST00000267079.2	37	c.2245_2248delTCTA	CCDS8860.1																																																																																				0.52	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		16	140						16	140	---	---	---	---	-	53875961	TAGA	-	53875958	7	5	437	1	0	1	0	1	0	0	0	0	9246	1638	57	0	339	0	MAP3K12	12	53875958	Frame_Shift_Del	DEL	TAGA	TCGA-S9-A6WP-01A-12D-A34A-08	50226060	53875958	79975937	27	37172											
ACTN1	87	broad.mit.edu	37	chr14	69369214	69369214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgggctccagagaaggCgtggtagaagctagacacgt	14	9	1	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:69369214C>T	ENST00000193403.6	-	8	1125	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	248					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGAGAAGGCGTGGTAGAAG	0.577																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(742-744)Gcc>Acc		actinin, alpha 1							167	142	150					14																	69369214		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69369214C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.742G>A	14.37:g.69369214C>T	ENSP00000193403:p.Ala248Thr					ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T	p.A248T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	8	1125	-			248					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.742G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666003	0.88251	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.71	4.71	0.59529	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.992	P;D;P;P	0.70487	0.883;0.969;0.863;0.896	D	0.95776	0.8813	10	0.39692	T	0.17	.	18.2101	0.89867	0.0:1.0:0.0:0.0	.	248;248;248;248	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	T	248;248;248;183;248;183;227	ENSP00000193403:A248T;ENSP00000377941:A248T;ENSP00000414272:A248T;ENSP00000366035:A183T;ENSP00000439828:A248T;ENSP00000450903:A183T;ENSP00000450764:A227T	ENSP00000193403:A248T	A	-	1	0	ACTN1	68438967	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.625000	0.83145	2.607000	0.88179	0.561000	0.74099	GCC		0.577	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		21	70	0	0	0	1	0	21	70					T	69369214	C	T	69369214	3	4	437	1	0	0	0	0	1	0	0	0	204	768	27	1	2062	1	ACTN1	14	69369214	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		69369214	37980326	28	37173											
DUOX1	53905	broad.mit.edu	37	chr15	45455798	45455800	+	In_Frame_Del	DEL	GGA	GGA	-													gctgacatcatccgagaggtGgaggagaatgaccaccagga							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:45455798_45455800delGGA	ENST00000321429.4	+	33	4724_4726	c.4317_4319delGGA	c.(4315-4320)gtggag>gtg	p.E1441del	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_In_Frame_Del_p.E1441del|DUOX1_ENST00000561166.1_In_Frame_Del_p.E1087del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1441					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCCGAGAGGTGGAGGAGAATGAC	0.571											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4315-4320)gtg>gt		dual oxidase 1																																				SO:0001651	inframe_deletion	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455798_45455800delGGA	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4317_4319delGGA	15.37:g.45455801_45455803delGGA	ENSP00000317997:p.Glu1441del		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_In_Frame_Del_p.VE1439del|DUOX1_ENST00000561166.1_In_Frame_Del_p.VE1085del	p.VE1439del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4724_4726	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1439					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	In_Frame_Del	DEL	ENST00000321429.4	37	c.4317_4319delGGA	CCDS32221.1																																																																																				0.571	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		13	109						13	109	---	---	---	---	-	45455800	GGA	-	45455798	7	5	437	1	0	1	0	1	0	0	0	0	4800	1335	47	0	4439	0	DUOX1	15	45455798	In_Frame_Del	DEL	GGA	TCGA-S9-A6WP-01A-12D-A34A-08		45455798	57075594	29	37174											
ACSBG1	23205	broad.mit.edu	37	chr15	78487029	78487029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggtctatgcgcaggCgcacccgcccatcggcccga	14	16	1	0	rs148216585		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:78487029C>T	ENST00000258873.4	-	3	477	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|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	91					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						TATGCGCAGGCGCACCCGCCC	0.632																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(271-273)cGc>cAc		acyl-CoA synthetase bubblegum family member 1		C	HIS/ARG,HIS/ARG	0,4392		0,0,2196	97	91	93		272,272	1.8	0.9	15	dbSNP_134	93	8,8578	6.4+/-24.3	0,8,4285	yes	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	29,29	0,8,6481	TT,TC,CC		0.0932,0.0,0.0616	benign,benign	91/721,91/725	78487029	8,12970	2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78487029C>T	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.272G>A	15.37:g.78487029C>T	ENSP00000258873:p.Arg91His					ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	p.R91H	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			3	477	-			91					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.272G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265784	0.23136	0.0	9.32E-4	ENSG00000103740	ENST00000258873	T	0.10763	2.84	5.12	1.77	0.24775	.	0.343935	0.27927	N	0.017297	T	0.10895	0.0266	L	0.59436	1.845	0.38677	D	0.952459	B;B	0.15930	0.006;0.015	B;B	0.11329	0.003;0.006	T	0.07443	-1.0772	10	0.51188	T	0.08	-21.9742	7.4959	0.27490	0.0:0.5819:0.0:0.4181	.	91;91	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	H	91	ENSP00000258873:R91H	ENSP00000258873:R91H	R	-	2	0	ACSBG1	76274084	0.822000	0.29219	0.888000	0.34837	0.068000	0.16541	0.128000	0.15810	0.557000	0.29117	0.655000	0.94253	CGC		0.632	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		14	109	0	0	0	1	0	14	109					T	78487029	C	T	78487029	3	4	437	1	0	0	0	0	1	0	0	0	173	768	27	1	1950	1	ACSBG1	15	78487029	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	33031231	78487029	24044363	30	37175											
COG7	91949	broad.mit.edu	37	chr16	23400383	23400383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacggctgcaggcccaggGcatccatcacgttgatcaga	14	12	2	2	rs368614074		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:23400383G>A	ENST00000307149.5	-	17	2356	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	724					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGCCCAGGGCATCCATCAC	0.627																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2170-2172)gCc>gTc		component of oligomeric golgi complex 7							61	50	54					16																	23400383		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400383G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2171C>T	16.37:g.23400383G>A	ENSP00000305442:p.Ala724Val						p.A724V	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2356	-			724					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.2171C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370143	0.95900	.	.	ENSG00000168434	ENST00000307149	T	0.53206	0.63	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.66689	-0.5860	10	0.48119	T	0.1	-26.6763	17.4999	0.87728	0.0:0.0:1.0:0.0	.	724	P83436	COG7_HUMAN	V	724	ENSP00000305442:A724V	ENSP00000305442:A724V	A	-	2	0	COG7	23307884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.718000	0.98758	2.450000	0.82876	0.561000	0.74099	GCC		0.627	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			3	38	0	0	0	1	0	3	38					A	23400383	G	A	23400383	3	1	437	1	0	0	0	0	1	0	0	0	3663	1203	42	2	145	2	COG7	16	23400383	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		23400383	66954370	31	37176											
RBBP6	5930	broad.mit.edu	37	chr16	24583552	24583553	+	Frame_Shift_Del	DEL	AA	AA	-													tagcagtgccagctcagcagAaagtcaggacagcaagaaga							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:24583552_24583553delAA	ENST00000319715.4	+	18	5597_5598	c.5165_5166delAA	c.(5164-5166)gaafs	p.E1722fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1722					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		Agctcagcagaaagtcaggaca	0.485																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(5164-5166)gfs		retinoblastoma binding protein 6																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583552_24583553delAA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5165_5166delAA	16.37:g.24583552_24583553delAA	ENSP00000317872:p.Glu1722fs					RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	p.E1722fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5597_5598	+			1722					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	c.5165_5166delAA	CCDS10621.1																																																																																				0.485	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	26						10	26	---	---	---	---	-	24583553	AA	-	24583552	7	5	437	1	0	1	0	1	0	0	0	0	13103	246	9	0	5289	0	RBBP6	16	24583552	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WP-01A-12D-A34A-08	1183169	24583552	65771201	32	37177											
ITGAX	3687	broad.mit.edu	37	chr16	31371635	31371635	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttcctgataggcacCgattgttccatgcctcatat	6	13	2	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:31371635C>T	ENST00000268296.4	+	8	833	c.712C>T	c.(712-714)Cga>Tga	p.R238*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	238	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGATAGGCACCGATTGTTCCA	0.498																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(712-714)Cga>Tga		integrin, alpha X (complement component 3 receptor 4 subunit)							91	95	93					16																	31371635		2197	4300	6497	SO:0001587	stop_gained	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31371635C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.712C>T	16.37:g.31371635C>T	ENSP00000268296:p.Arg238*					ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			8	833	+			238			VWFA.		Q8IVA6	Nonsense_Mutation	SNP	ENST00000268296.4	37	c.712C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733617	0.30684	.	.	ENSG00000140678	ENST00000268296	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.6791	0.56912	0.1817:0.1772:0.5851:0.0561	.	.	.	.	X	238	.	ENSP00000268296:R238X	R	+	1	2	ITGAX	31279136	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.013000	0.00046	-4.784000	0.00032	-2.786000	0.00116	CGA		0.498	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		55	95	0	0	0	1	0	55	95					T	31371635	C	T	31371635	4	4	437	1	0	0	0	0	0	1	0	0	7889	644	23	1	742	1	ITGAX	16	31371635	Nonsense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	6788083	31371635	58983118	33	37178											
HYDIN	54768	broad.mit.edu	37	chr16	70975652	70975652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagcaggcagaggaggGcggctgcagcattctgagca	15	11	2	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:70975652G>A	ENST00000393567.2	-	43	6890	c.6740C>T	c.(6739-6741)gCc>gTc	p.A2247V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2247					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)				GCAGAGGAGGGCGGCTGCAGC	0.537																																						ENST00000393567.2																			0				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						c.(6739-6741)gCc>gTc		HYDIN, axonemal central pair apparatus protein							67	69	69					16																	70975652		1957	4140	6097	SO:0001583	missense	54768							g.chr16:70975652G>A	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.6740C>T	16.37:g.70975652G>A	ENSP00000377197:p.Ala2247Val						p.A2247V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			43	6890	-		Ovarian(137;0.0654)	2247					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.6740C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947104	0.53186	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00932	5.53	5.32	5.32	0.75619	.	0.240568	0.20033	U	0.100671	T	0.01940	0.0061	M	0.73598	2.24	0.80722	D	1	B	0.24963	0.115	B	0.20767	0.031	T	0.50947	-0.8767	10	0.49607	T	0.09	.	13.3323	0.60495	0.0775:0.0:0.9225:0.0	.	2246	F8WD23	.	V	2247;2246	ENSP00000377197:A2247V	ENSP00000313052:A2246V	A	-	2	0	HYDIN	69533153	1.000000	0.71417	0.874000	0.34290	0.305000	0.27757	5.922000	0.70036	2.649000	0.89929	0.508000	0.49915	GCC		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			50	72	0	0	0	1	0	50	72					A	70975652	G	A	70975652	3	1	437	1	0	0	0	0	1	0	0	0	7467	1203	42	2	8801	2	HYDIN	16	70975652	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	39604017	70975652	19379101	34	37179											
KIAA0182	23199	broad.mit.edu	37	chr16	85704656	85704656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagacgactggaggcccgGcactacagcctcagcctgac	12	14	1	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:85704656G>A	ENST00000253458.7	+	15	3647	c.3471G>A	c.(3469-3471)cgG>cgA	p.R1157R	GSE1_ENST00000405402.2_Silent_p.R1053R|GSE1_ENST00000393243.1_Silent_p.R1084R	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1157																	TGGAGGCCCGGCACTACAGCC	0.542																																						ENST00000253458.7																			0											c.(3469-3471)cgG>cgA		Gse1 coiled-coil protein							68	71	70					16																	85704656		2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85704656G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3471G>A	16.37:g.85704656G>A						GSE1_ENST00000393243.1_Silent_p.R1084R|GSE1_ENST00000405402.2_Silent_p.R1053R	p.R1157R	NM_014615.2	NP_055430.1					15	3647	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.3471G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530555	0.27387	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	6.03	5.08	0.68730	.	.	.	.	.	T	0.71126	0.3303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	-25.427	15.2911	0.73868	0.0668:0.0:0.9332:0.0	.	.	.	.	D	926;359	.	.	G	+	2	0	KIAA0182	84262157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.571000	0.53841	1.569000	0.49696	0.555000	0.69702	GGC		0.542	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		9	60	0	0	0	1	0	9	60					A	85704656	G	A	85704656	2	1	437	1	0	0	0	0	0	0	0	1	8159	1190	42	2		2	KIAA0182	16	85704656	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	14729004	85704656	4650097	35	37180											
NF1	4763	broad.mit.edu	37	chr17	29556222	29556222	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattctggcctggcaacctaTagcccacccatgggtccagt	9	14	1	0	rs587782814		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29556222T>A	ENST00000358273.4	+	21	2972	c.2589T>A	c.(2587-2589)taT>taA	p.Y863*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	863					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.?(4)	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)		TGGCAACCTATAGCCCACCCA	0.502			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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						c.(2587-2589)taT>taA		neurofibromin 1							53	51	52					17																	29556222		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556222T>A		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.2589T>A	17.37:g.29556222T>A	ENSP00000351015:p.Tyr863*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	21	2972	+		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)	863					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.2589T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	44	10.632593	0.99441	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.44	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8829	0.24183	0.0:0.6275:0.0:0.3725	.	.	.	.	X	863;863;529	.	ENSP00000348498:Y863X	Y	+	3	2	NF1	26580348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.466000	0.45084	0.386000	0.24997	0.454000	0.30748	TAT		0.502	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		28	43	0	0	0	1	0	28	43					A	29556222	T	A	29556222	4	1	437	1	0	0	0	0	0	1	0	0	10356	1413	49	5	2732	5	NF1	17	29556222	Nonsense_Mutation	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		29556222	51638988	36	37181											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													agctcgagttctggttactcTgtttgattctcggcatttac							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	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.?(4)|p.F1247fs*16(1)	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)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	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	GRCh37	CD000973|CD972354	NF1	D		c.(3736-3741)ctfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562657_29562660delTGTT		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.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	28	4120_4123	+		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)	1246			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3737_3740delTGTT	CCDS42292.1																																																																																				0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		53	264						53	264	---	---	---	---	-	29562660	TGTT	-	29562657	7	5	437	1	0	1	0	1	0	0	0	0	10356	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-S9-A6WP-01A-12D-A34A-08	6435	29562657	51632553	37	37182											
GPR179	440435	broad.mit.edu	37	chr17	36489867	36489869	+	In_Frame_Del	DEL	GAA	GAA	-													gtgactgtgctgtgggtgtgGaagaagaagaggaggagggt					rs190745934	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:36489867_36489869delGAA	ENST00000342292.4	-	9	1857_1859	c.1837_1839delTTC	c.(1837-1839)ttcdel	p.F613del		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	613					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)				TGTGGGTGTGGAAGAAGAAGAGG	0.621											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342292.4																			0				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						c.(1837-1839)del		G protein-coupled receptor 179																																				SO:0001651	inframe_deletion	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489867_36489869delGAA		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.1837_1839delTTC	17.37:g.36489873_36489875delGAA	ENSP00000345060:p.Phe613del		OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863		p.F613del	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			9	1857_1859	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	613						In_Frame_Del	DEL	ENST00000342292.4	37	c.1837_1839delTTC	CCDS42308.1																																																																																				0.621	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			11	60						11	60	---	---	---	---	-	36489869	GAA	-	36489867	7	5	437	1	0	1	0	1	0	0	0	0	6674	1165	41	0	5276	0	GPR179	17	36489867	In_Frame_Del	DEL	GAA	TCGA-S9-A6WP-01A-12D-A34A-08	6927210	36489867	44705343	38	37183											
CDC6	990	broad.mit.edu	37	chr17	38451607	38451607	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctatgtcttgtctgaaGgtatctagagatcaggttct	9	7	7	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:38451607G>A	ENST00000209728.4	+	8	1554		c.e8-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTTGTCTGAAGGTATCTAGAG	0.408																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.e8-1		cell division cycle 6							185	171	176					17																	38451607		2203	4300	6503	SO:0001630	splice_region_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451607G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1084-1G>A	17.37:g.38451607G>A								NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1554	+								Q8TB30	Splice_Site	SNP	ENST00000209728.4	37		CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961362	0.53400	.	.	ENSG00000094804	ENST00000209728	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.185	0.93639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC6	35705133	1.000000	0.71417	0.827000	0.32855	0.567000	0.35839	7.896000	0.87350	2.835000	0.97688	0.591000	0.81541	.		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		Intron	41	77	0	0	0	1	0	41	77					A	38451607	G	A	38451607	5	1	437	1	0	0	0	0	0	0	1	0	3083	1014	35	2	1109	2	CDC6	17	38451607	Splice_Site	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	1961740	38451607	42743603	39	37184											
GOSR2	9570	broad.mit.edu	37	chr17	45016041	45016041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcggctcatcgagaagcGggctttccaggacaagtact	13	10	1	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45016041G>A	ENST00000393456.2	+	6	611	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|GOSR2_ENST00000576910.2_Missense_Mutation_p.R138Q	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	185					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATCGAGAAGCGGGCTTTCCAG	0.527																																						ENST00000576910.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(412-414)cGg>cAg		golgi SNAP receptor complex member 2							271	222	238					17																	45016041		2203	4300	6503	SO:0001583	missense	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016041G>A	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.554G>A	17.37:g.45016041G>A	ENSP00000377101:p.Arg185Gln					GOSR2_ENST00000393456.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q	p.R138Q			O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	489	+			185					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.413G>A	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551811	0.96501	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000439730	D;D;D	0.87966	-2.32;-2.32;-2.32	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95338	0.8487	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.96293	0.9215	10	0.87932	D	0	-21.6186	18.5078	0.90904	0.0:0.0:1.0:0.0	.	185;185;185	E7EQ34;O14653;O14653-2	.;GOSR2_HUMAN;.	Q	185	ENSP00000225567:R185Q;ENSP00000377101:R185Q;ENSP00000390577:R185Q	ENSP00000225567:R185Q	R	+	2	0	GOSR2	42371040	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.407000	0.97325	2.677000	0.91161	0.655000	0.94253	CGG		0.527	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			68	106	0	0	0	1	0	68	106					A	45016041	G	A	45016041	3	1	437	1	0	0	0	0	1	0	0	0	6578	1116	39	1	687	1	GOSR2	17	45016041	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	6564434	45016041	36179169	40	37185											
COL1A1	1277	broad.mit.edu	37	chr17	48263208	48263208	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggatctcgatctcgttGgagccctggaggagcagggc	17	11	2	0	rs1800219	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:48263208G>C	ENST00000225964.5	-	50	4297	c.4179C>G	c.(4177-4179)tcC>tcG	p.S1393S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1393	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)	CGATCTCGTTGGAGCCCTGGA	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				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						c.(4177-4179)tcC>tcG		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						86	70	76					17																	48263208		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263208G>C	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.4179C>G	17.37:g.48263208G>C							p.S1393S	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			50	4297	-			1393			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.4179C>G	CCDS11561.1																																																																																				0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			27	43	0	0	0	1	0	27	43					C	48263208	G	C	48263208	2	2	437	1	0	0	0	0	0	0	0	1	3677	1335	47	4		4	COL1A1	17	48263208	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	3247167	48263208	32932002	41	37186											
MBD2	8932	broad.mit.edu	37	chr18	51715312	51715312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actaggatgatttgtgacttTggttaccggttgtttgaaaa	11	4	0	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr18:51715312T>C	ENST00000256429.3	-	3	1000	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	258					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)		TTTGTGACTTTGGTTACCGGT	0.333																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(772-774)Aaa>Gaa		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						223	215	218					18																	51715312		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51715312T>C	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.772A>G	18.37:g.51715312T>C	ENSP00000256429:p.Lys258Glu						p.K258E	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	3	1000	-			258					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.772A>G	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317828	0.40996	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.88	5.88	0.94601	.	0.122450	0.52532	D	0.000064	D	0.98582	0.9526	M	0.75447	2.3	0.80722	D	1	P	0.51933	0.949	P	0.55455	0.776	D	0.98773	1.0729	10	0.30078	T	0.28	-9.5848	15.2725	0.73717	0.0:0.0:0.0:1.0	.	258	Q9UBB5	MBD2_HUMAN	E	258	ENSP00000256429:K258E	ENSP00000256429:K258E	K	-	1	0	MBD2	49969310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.864000	0.87037	2.252000	0.74401	0.460000	0.39030	AAA		0.333	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		4	156	0	0	0	1	0	4	156					C	51715312	T	C	51715312	3	2	437	1	0	0	0	0	1	0	0	0	9343	1821	63	3	479	3	MBD2	18	51715312	Missense_Mutation	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		51715312	26361936	42	37187											
MED16	10025	broad.mit.edu	37	chr19	891130	891131	+	Start_Codon_Del	DEL	AT	AT	-													ctggccgccgcaaatcacacAtgagggcagtcaccagctcc							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:891130_891131delAT	ENST00000589119.1	-	0	0_1				MED16_ENST00000395808.3_Start_Codon_Del|MED16_ENST00000312090.6_Start_Codon_Del|MED16_ENST00000606828.1_5'UTR|RNU6-9_ENST00000384776.1_RNA|MED16_ENST00000325464.1_Start_Codon_Del|MED16_ENST00000269814.4_Start_Codon_Del			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;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)		CAAATCACACATGAGGGCAGTC	0.619																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21								mediator complex subunit 16				2,4262		0,2,2130						-2.2	0			85	5,8249		0,5,4122	no	frameshift	MED16	NM_005481.2		0,7,6252	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12511				SO:0001582	initiator_codon_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:891130_891131delAT	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0			19.37:g.891130_891131delAT						MED16_ENST00000269814.4_Start_Codon_Del|MED16_ENST00000395808.3_Start_Codon_Del|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000589119.1_Start_Codon_Del|MED16_ENST00000325464.1_Start_Codon_Del				Q9Y2X0	MED16_HUMAN		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)	0	151_152	-		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;9.42e-05)|Hepatocellular(1079;0.137)						Q6PJT2|Q96AD4|Q96I35|Q9Y652	Translation_Start_Site	DEL	ENST00000589119.1	37		CCDS12047.1																																																																																				0.619	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		42	89						42	89	---	---	---	---	-	891131	AT	-	891130	7	5	437	1	0	1	0	1	0	0	0	0	9434	217	8	0	2691	0	MED16	19	891130	Start_Codon_Del	DEL	AT	TCGA-S9-A6WP-01A-12D-A34A-08		891130	58237853	43	37188											
TCF3	6929	broad.mit.edu	37	chr19	1623982	1623982	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccggcgggaccttccggaCcttcttgggctgcgtgtctg	14	14	2	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:1623982C>A	ENST00000262965.5	-	8	861	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	TCF3_ENST00000395423.3_Missense_Mutation_p.V122F|TCF3_ENST00000588136.1_Missense_Mutation_p.V173F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000453954.2_Missense_Mutation_p.V89F	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ACCTTCCGGACCTTCTTGGGC	0.637			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(517-519)Gtc>Ttc		transcription factor 3							58	61	60					19																	1623982		2202	4300	6502	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1623982C>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.517G>T	19.37:g.1623982C>A	ENSP00000262965:p.Val173Phe					TCF3_ENST00000453954.2_Missense_Mutation_p.V89F|TCF3_ENST00000395423.3_Missense_Mutation_p.V122F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000588136.1_Missense_Mutation_p.V173F	p.V173F	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		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)	8	861	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	173					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.517G>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301038	0.60195	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.61392	0.11;0.11;0.11	4.12	4.12	0.48240	.	0.073528	0.56097	D	0.000038	T	0.74884	0.3775	M	0.83603	2.65	0.45239	D	0.998249	D;D;P	0.69078	0.997;0.979;0.954	D;P;P	0.66351	0.943;0.692;0.794	T	0.79279	-0.1869	10	0.62326	D	0.03	-24.8181	13.1168	0.59305	0.0:1.0:0.0:0.0	.	173;173;122	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	F	173;173;173;122	ENSP00000262965:V173F;ENSP00000344375:V173F;ENSP00000378813:V122F	ENSP00000262965:V173F	V	-	1	0	TCF3	1574982	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.504000	0.53347	1.853000	0.53794	0.313000	0.20887	GTC		0.637	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		14	27	1	0	8.00594e-06	1	8.62178e-06	14	27					A	1623982	C	A	1623982	3	1	437	1	0	0	0	0	1	0	0	0	15691	507	18	4	1726	4	TCF3	19	1623982	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	732852	1623982	57505001	44	37189											
NCOA3	8202	broad.mit.edu	37	chr20	46279863	46279863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcaacagcaacagca	10	14	0	0	rs578139784|rs112826888|rs573532891	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:46279863G>A	ENST00000371998.3	+	20	3980	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	NCOA3_ENST00000341724.6_Silent_p.Q1189Q|NCOA3_ENST00000372004.3_Silent_p.Q1259Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcaac	0.567													G|||	14	0.00279553	0.0076	0.0014	5008	,	,		14322	0.003		0.0	False		,,,				2504	0.0					ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3775-3777)caG>caA		nuclear receptor coactivator 3							58	62	60					20																	46279863		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279863G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3789G>A	20.37:g.46279863G>A						NCOA3_ENST00000371997.3_Silent_p.Q1254Q|NCOA3_ENST00000371998.3_Silent_p.Q1263Q|NCOA3_ENST00000341724.6_Silent_p.Q1189Q	p.Q1259Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3993	+			1263			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3777G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	65	0	0	0	1	0	4	65					A	46279863	G	A	46279863	2	1	437	1	0	0	0	0	0	0	0	1	10230	962	34	2		2	NCOA3	20	46279863	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		46279863	16745657	45	37190											
TMEM189-UBE2V1	7335	broad.mit.edu	37	chr20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggacaactttgatgctatatGaattctgccattttgctagc	8	8	1	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:48699408G>A	ENST00000371674.3	-	4	385	c.341C>T	c.(340-342)tCa>tTa	p.S114L	UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|TMEM189_ENST00000557021.1_Missense_Mutation_p.S337L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	114					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|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 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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GATGCTATATGAATTCTGCCA	0.423																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1009-1011)tCa>tTa		transmembrane protein 189							68	66	67					20																	48699408		2203	4298	6501	SO:0001583	missense	387521							g.chr20:48699408G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"Ubiquitin-conjugating enzymes E2"	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.341C>T	20.37:g.48699408G>A	ENSP00000360739:p.Ser114Leu					UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L	p.S337L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1170	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.1010C>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956830	0.92726	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.35	5.35	0.76521	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000487	T	0.30885	0.0779	L	0.61387	1.9	0.58432	D	0.999995	D;B;B;P	0.55800	0.973;0.348;0.348;0.628	P;P;P;P	0.54629	0.757;0.523;0.523;0.562	T	0.01762	-1.1279	10	0.72032	D	0.01	-0.3462	19.0759	0.93161	0.0:0.0:1.0:0.0	.	337;137;70;114	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	L	337;72;114;137;70;137;70;70;337	ENSP00000344166:S337L;ENSP00000360720:S72L;ENSP00000360739:S114L;ENSP00000340305:S137L;ENSP00000407770:S70L;ENSP00000360742:S137L;ENSP00000395264:S70L;ENSP00000450635:S337L	ENSP00000344166:S337L	S	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132815	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.476000	0.97823	2.506000	0.84524	0.650000	0.86243	TCA		0.423	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		7	81	0	0	0	1	0	7	81					A	48699408	G	A	48699408	3	1	437	1	0	0	0	0	1	0	0	0	16109	1294	45	2	106	2	TMEM189-UBE2V1	20	48699408	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	2419545	48699408	14326112	46	37191											
MCM3AP	8888	broad.mit.edu	37	chr21	47704304	47704304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgtctccttggggaGcgatcctggtcctccttcct	11	14	1	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47704304G>A	ENST00000397708.1	-	2	1151	c.897C>T	c.(895-897)cgC>cgT	p.R299R	MCM3AP_ENST00000291688.1_Silent_p.R299R|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	299	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTTGGGGAGCGATCCTGGT	0.577																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(895-897)cgC>cgT		minichromosome maintenance complex component 3 associated protein							94	99	98					21																	47704304		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704304G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.897C>T	21.37:g.47704304G>A						MCM3AP_ENST00000291688.1_Silent_p.R299R	p.R299R			O60318	MCM3A_HUMAN			2	1151	-	Breast(49;0.112)		299					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.897C>T	CCDS13734.1																																																																																				0.577	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		8	130	0	0	0	1	0	8	130					A	47704304	G	A	47704304	2	1	437	1	0	0	0	0	0	0	0	1	9388	958	34	2		2	MCM3AP	21	47704304	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		47704304	425591	47	37192											
DIP2A	23181	broad.mit.edu	37	chr21	47959885	47959888	+	Frame_Shift_Del	DEL	CTGA	CTGA	-													gtgcaagttctcctgaggcgCtgactgtcgccatccgcagg							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47959885_47959888delCTGA	ENST00000417564.2	+	17	2038_2041	c.2017_2020delCTGA	c.(2017-2022)ctgactfs	p.LT673fs	DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000318711.7_Frame_Shift_Del_p.LT674fs			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	673					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)		TCCTGAGGCGCTGACTGTCGCCAT	0.534																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2020-2025)ctfs		DIP2 disco-interacting protein 2 homolog A (Drosophila)																																				SO:0001589	frameshift_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47959885_47959888delCTGA	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.2017_2020delCTGA	21.37:g.47959885_47959888delCTGA	ENSP00000392066:p.Leu673fs					DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000417564.2_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs	p.LT674fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		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)	17	2203_2206	+	Breast(49;0.0933)		673					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Del	DEL	ENST00000417564.2	37	c.2020_2023delCTGA	CCDS46655.1																																																																																				0.534	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		7	142						7	142	---	---	---	---	-	47959888	CTGA	-	47959885	7	5	437	1	0	1	0	1	0	0	0	0	4527	796	28	0	2083	0	DIP2A	21	47959885	Frame_Shift_Del	DEL	CTGA	TCGA-S9-A6WP-01A-12D-A34A-08	255581	47959885	170010	48	37193											
CXorf22	170063	broad.mit.edu	37	chrX	35985740	35985740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattctataaaaggtatAttgccttcgatccgtaatcc	5	9	2	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:35985740A>G	ENST00000297866.5	+	10	1671	c.1605A>G	c.(1603-1605)atA>atG	p.I535M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	535										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAAAAGGTATATTGCCTTCGA	0.323																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1603-1605)atA>atG		chromosome X open reading frame 22							69	61	64					X																	35985740		2202	4299	6501	SO:0001583	missense	170063							g.chrX:35985740A>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1605A>G	X.37:g.35985740A>G	ENSP00000297866:p.Ile535Met						p.I535M	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			10	1671	+			535					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1605A>G	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	2.250	-0.371884	0.05034	.	.	ENSG00000165164	ENST00000297866	T	0.20881	2.04	4.89	2.46	0.29980	.	0.387872	0.26507	N	0.023992	T	0.16085	0.0387	L	0.43152	1.355	0.09310	N	0.999998	B	0.28350	0.208	B	0.30572	0.117	T	0.20773	-1.0265	10	0.44086	T	0.13	-7.9075	4.8001	0.13292	0.677:0.0:0.1795:0.1435	.	535	Q6ZTR5	CX022_HUMAN	M	535	ENSP00000297866:I535M	ENSP00000297866:I535M	I	+	3	3	CXorf22	35895661	1.000000	0.71417	0.309000	0.25155	0.007000	0.05969	1.474000	0.35398	-0.086000	0.12550	-1.565000	0.00878	ATA		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		9	25	0	0	0	1	0	9	25					G	35985740	A	G	35985740	3	3	437	1	0	0	0	0	1	0	0	0	4102	439	16	3	1643	3	CXorf22	23	35985740	Missense_Mutation	SNP	A	TCGA-S9-A6WP-01A-12D-A34A-08		35985740	119284820	49	37194											
PCDH19	57526	broad.mit.edu	37	chrX	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-													gcctgcgtccacagtatggcCagcagcagcagcaccggcag							TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del|PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					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						ACAGTATGGCCAGCAGCAGCAGC	0.665																																						ENST00000373034.4																			0				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						c.(34-36)del		protocadherin 19			,,	56,3144		0,40,16,1328,448					,,	5.7	1			6	159,5726		2,89,66,2096,1445	no	coding,coding,coding	PCDH19	NM_020766.2,NM_001184880.1,NM_001105243.1	,,	2,129,82,3424,1893	A1A1,A1R,A1,RR,R		2.7018,1.75,2.3665	,,	,,		215,8870				SO:0001651	inframe_deletion	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663560_99663562delCAG	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.34_36delCTG	X.37:g.99663569_99663571delCAG	ENSP00000362125:p.Leu12del					PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	1709_1711	-			12					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	In_Frame_Del	DEL	ENST00000373034.4	37	c.34_36delCTG	CCDS55462.1																																																																																				0.665	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	6						3	6	---	---	---	---	-	99663562	CAG	-	99663560	7	5	437	1	0	1	0	1	0	0	0	0	11514	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-S9-A6WP-01A-12D-A34A-08	63677820	99663560	55607000	50	37195											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	45	0	0	0	1	0	4	45					A	150156360	G	A	150156360	2	1	437	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	50492800	150156360	5114200	51	37196											
MYOM3	127294	broad.mit.edu	37	chr1	24387782	24387782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtctctggtgttcagCcattgcatcctcaaaagcta	7	12	4	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:24387782C>T	ENST00000374434.3	-	34	4114	c.3952G>A	c.(3952-3954)Gct>Act	p.A1318T	MYOM3_ENST00000330966.7_Missense_Mutation_p.A1321T|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1318						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGTTCAGCCATTGCATCC	0.512																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3961-3963)Gct>Act		myomesin 3							46	48	47					1																	24387782		1925	4118	6043	SO:0001583	missense	127294							g.chr1:24387782C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3952G>A	1.37:g.24387782C>T	ENSP00000363557:p.Ala1318Thr					MYOM3_ENST00000374434.3_Missense_Mutation_p.A1318T|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T	p.A1321T			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	34	4123	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1318					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3961G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236278	0.39498	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.57107	0.42;0.54;0.54	4.65	4.65	0.58169	.	0.232960	0.37669	N	0.001999	T	0.62816	0.2459	M	0.68952	2.095	0.80722	D	1	D;B	0.71674	0.998;0.132	P;B	0.53146	0.719;0.047	T	0.62642	-0.6811	10	0.28530	T	0.3	.	17.5111	0.87760	0.0:1.0:0.0:0.0	.	1318;211	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	T	211;1318;1321;213	ENSP00000342689:A211T;ENSP00000363557:A1318T;ENSP00000332670:A1321T	ENSP00000332670:A1321T	A	-	1	0	MYOM3	24260369	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	2.021000	0.41020	2.112000	0.64535	0.591000	0.81541	GCT		0.512	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		3	34	0	0	0	1	0	3	34					T	24387782	C	T	24387782	3	4	438	1	0	0	0	0	1	0	0	0	10093	739	26	2	377	2	MYOM3	1	24387782	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		24387782	224862839	1	37197											
FAM167B	84734	broad.mit.edu	37	chr1	32713141	32713141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgcagactcggcGgccctcatatctggagtgga	14	12	2	1	rs549437991		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:32713141G>A	ENST00000373582.3	+	1	308	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	40										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGACTCGGCGGCCCTCATAT	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		17993	0.001		0.0	False		,,,				2504	0.0					ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(118-120)cGg>cAg		family with sequence similarity 167, member B							34	43	40					1																	32713141		1985	4160	6145	SO:0001583	missense	84734							g.chr1:32713141G>A	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.119G>A	1.37:g.32713141G>A	ENSP00000362684:p.Arg40Gln						p.R40Q	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	308	+			40					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.119G>A	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	27.1	4.801461	0.90538	.	.	ENSG00000183615	ENST00000373582	T	0.58797	0.31	5.51	5.51	0.81932	.	0.000000	0.85682	U	0.000000	T	0.70657	0.3249	M	0.74881	2.28	0.58432	D	0.999996	D	0.67145	0.996	P	0.52627	0.704	T	0.74825	-0.3533	10	0.87932	D	0	-3.8131	19.3687	0.94475	0.0:0.0:1.0:0.0	.	40	Q9BTA0	F167B_HUMAN	Q	40	ENSP00000362684:R40Q	ENSP00000362684:R40Q	R	+	2	0	FAM167B	32485728	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.262000	0.95591	2.762000	0.94881	0.561000	0.74099	CGG		0.627	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		3	44	0	0	0	1	0	3	44					A	32713141	G	A	32713141	3	1	438	1	0	0	0	0	1	0	0	0	5484	1116	39	1	121	1	FAM167B	1	32713141	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	8325359	32713141	216537480	2	37198											
LPPR4	9890	broad.mit.edu	37	chr1	99753613	99753613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatttagctgctatgaCcggagtcttagcatgccgta	11	9	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:99753613C>T	ENST00000370185.3	+	2	812	c.315C>T	c.(313-315)gaC>gaT	p.D105D	LPPR4_ENST00000457765.1_Silent_p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		105					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)		GCTGCTATGACCGGAGTCTTA	0.458																																						ENST00000370185.3																			0				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						c.(313-315)gaC>gaT									181	161	168					1																	99753613		2203	4300	6503	SO:0001819	synonymous_variant	0						phosphatidate phosphatase activity	g.chr1:99753613C>T																												ENST00000370185.3:c.315C>T	1.37:g.99753613C>T						LPPR4_ENST00000457765.1_Silent_p.D105D	p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	2	812	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	105					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.315C>T	CCDS757.1																																																																																				0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	137	0	0	0	1	0	4	137					T	99753613	C	T	99753613	2	4	438	1	0	0	0	0	0	0	0	1	8927	506	18	2		2	LPPR4	1	99753613	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	67040472	99753613	149497008	3	37199											
EXTL2	2135	broad.mit.edu	37	chr1	101343193	101343193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatcactttgtgcagaTttggtacagcctgataatga	8	9	1	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:101343193T>C	ENST00000370114.3	-	3	1708	c.272A>G	c.(271-273)aAt>aGt	p.N91S	EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S|EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	91					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGTGCAGATTTGGTACAGC	0.418																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(271-273)aAt>aGt		exostosin-like glycosyltransferase 2							142	142	142					1																	101343193		2203	4300	6503	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101343193T>C	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"Exostosin glycosyltransferase family"	3516	protein-coding gene	gene with protein product	"alpha-1,4-N-acteylhexosaminyltransferase"	602411	"exostoses (multiple)-like 2"			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.272A>G	1.37:g.101343193T>C	ENSP00000359132:p.Asn91Ser					EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S|EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S	p.N91S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	3	1708	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	91					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.272A>G	CCDS775.1	.	.	.	.	.	.	.	.	.	.	T	7.734	0.699868	0.15106	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.61	4.44	0.53790	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.454188	0.28236	N	0.016084	T	0.17874	0.0429	N	0.00642	-1.3	0.21105	N	0.99979	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.31223	-0.9951	10	0.12766	T	0.61	-2.0045	9.2611	0.37612	0.0:0.1411:0.0:0.8589	.	91;91	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	S	91;91;78;99;78	ENSP00000359132:N91S;ENSP00000359131:N91S;ENSP00000444385:N78S;ENSP00000403363:N99S;ENSP00000392255:N78S	ENSP00000359131:N91S	N	-	2	0	EXTL2	101115781	1.000000	0.71417	0.058000	0.19502	0.964000	0.63967	3.233000	0.51311	1.011000	0.39340	0.533000	0.62120	AAT		0.418	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		4	136	0	0	0	1	0	4	136					C	101343193	T	C	101343193	3	2	438	1	0	0	0	0	1	0	0	0	5326	1493	52	3	732	3	EXTL2	1	101343193	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	1589580	101343193	147907428	4	37200											
FLG	2312	broad.mit.edu	37	chr1	152283076	152283076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctttcccctgactggCcacgtgcggactctttgtgg	12	13	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:152283076C>T	ENST00000368799.1	-	3	4321	c.4286G>A	c.(4285-4287)gGc>gAc	p.G1429D	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	1429	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)			CCCTGACTGGCCACGTGCGGA	0.557									Ichthyosis																													ENST00000368799.1																			0				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						c.(4285-4287)gGc>gAc		filaggrin							198	199	199					1																	152283076		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283076C>T	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.4286G>A	1.37:g.152283076C>T	ENSP00000357789:p.Gly1429Asp					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G1429D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4321	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1429			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4286G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064023	0.20067	.	.	ENSG00000143631	ENST00000368799	T	0.02140	4.43	3.16	-0.0186	0.13963	.	.	.	.	.	T	0.00754	0.0025	L	0.59436	1.845	0.09310	N	1	B	0.30033	0.266	B	0.24394	0.053	T	0.46091	-0.9216	9	0.28530	T	0.3	.	3.5234	0.07751	0.0:0.5301:0.2125:0.2574	.	1429	P20930	FILA_HUMAN	D	1429	ENSP00000357789:G1429D	ENSP00000357789:G1429D	G	-	2	0	FLG	150549700	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.483000	0.22292	-0.093000	0.12396	-0.222000	0.12452	GGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	298	0	0	0	1	0	5	298					T	152283076	C	T	152283076	3	4	438	1	0	0	0	0	1	0	0	0	5922	739	26	2	7903	2	FLG	1	152283076	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	50939883	152283076	96967545	5	37201											
NSL1	25936	broad.mit.edu	37	chr1	212957773	212957773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgggatactgcttacGttttgtggctatatctacta	8	8	2	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:212957773G>A	ENST00000366977.3	-	3	394	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	126					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TACTGCTTACGTTTTGTGGCT	0.303																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(376-378)Cgt>Tgt		NSL1, MIS12 kinetochore complex component							122	114	117					1																	212957773		2202	4297	6499	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212957773G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.376C>T	1.37:g.212957773G>A	ENSP00000355944:p.Arg126Cys					NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C	p.R126C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	3	394	-			126					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.376C>T	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125066	0.56721	.	.	ENSG00000117697	ENST00000366978;ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	D;T;T;T;T	0.82619	-1.63;0.48;-0.13;0.69;-0.1	5.55	4.64	0.57946	.	0.052324	0.85682	N	0.000000	D	0.84602	0.5508	M	0.74258	2.255	0.80722	D	1	P;P;P	0.47253	0.892;0.892;0.892	B;P;B	0.46320	0.376;0.512;0.376	D	0.86107	0.1560	10	0.87932	D	0	-3.8401	12.2209	0.54433	0.0828:0.0:0.9172:0.0	.	126;126;126	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	C	23;126;126;126;126	ENSP00000355945:R23C;ENSP00000355944:R126C;ENSP00000388406:R126C;ENSP00000355942:R126C;ENSP00000355943:R126C	ENSP00000355942:R126C	R	-	1	0	NSL1	211024396	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.340000	0.65958	1.338000	0.45544	-0.140000	0.14226	CGT		0.303	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		26	86	0	0	0	1	0	26	86					A	212957773	G	A	212957773	3	1	438	1	0	0	0	0	1	0	0	0	10673	1145	40	1	574	1	NSL1	1	212957773	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	60674697	212957773	36292848	6	37202											
LBR	3930	broad.mit.edu	37	chr1	225591028	225591028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatgtatggaaatatacGgtagggcacacgctgacagt	13	6	0	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:225591028G>A	ENST00000338179.2	-	14	1950	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	LBR_ENST00000272163.4_Missense_Mutation_p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	609					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)		GGAAATATACGGTAGGGCACA	0.438																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1825-1827)Cgt>Tgt		lamin B receptor							112	106	108					1																	225591028		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225591028G>A	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.1825C>T	1.37:g.225591028G>A	ENSP00000339883:p.Arg609Cys					LBR_ENST00000272163.4_Missense_Mutation_p.R609C	p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	14	1950	-	Breast(184;0.165)		609					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1825C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402078	0.83120	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.98135	-4.74;-4.74	6.17	5.26	0.73747	.	0.046720	0.85682	D	0.000000	D	0.99174	0.9714	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98891	1.0773	10	0.72032	D	0.01	-21.5139	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	609	Q14739	LBR_HUMAN	C	609	ENSP00000272163:R609C;ENSP00000339883:R609C	ENSP00000272163:R609C	R	-	1	0	LBR	223657651	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	4.346000	0.59367	1.621000	0.50320	0.655000	0.94253	CGT		0.438	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		23	61	0	0	0	1	0	23	61					A	225591028	G	A	225591028	3	1	438	1	0	0	0	0	1	0	0	0	8652	1116	39	1	26	1	LBR	1	225591028	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	12633255	225591028	23659593	7	37203											
TMEM214	54867	broad.mit.edu	37	chr2	27256953	27256953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaatccagaccacaaGcaccctttatgagcggggct	10	13	0	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:27256953G>A	ENST00000238788.9	+	2	232	c.170G>A	c.(169-171)aGc>aAc	p.S57N	TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	57					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGACCACAAGCACCCTTTAT	0.542																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(169-171)aGc>aAc		transmembrane protein 214							101	104	103					2																	27256953		1952	4147	6099	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27256953G>A		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.170G>A	2.37:g.27256953G>A	ENSP00000238788:p.Ser57Asn					TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			2	232	+			57					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.170G>A	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048516	0.36181	.	.	ENSG00000119777	ENST00000238788;ENST00000535207;ENST00000404032	D;D	0.86497	-2.13;-2.13	5.07	4.18	0.49190	.	0.272259	0.39475	N	0.001360	T	0.77363	0.4119	L	0.38531	1.155	0.27467	N	0.952975	B;B	0.20052	0.041;0.024	B;B	0.16722	0.016;0.007	T	0.61267	-0.7097	10	0.18276	T	0.48	-6.9346	5.9373	0.19173	0.1309:0.1853:0.6838:0.0	.	57;57	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	N	57	ENSP00000238788:S57N;ENSP00000384417:S57N	ENSP00000238788:S57N	S	+	2	0	TMEM214	27110457	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.847000	0.48270	1.105000	0.41606	0.462000	0.41574	AGC		0.542	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		8	116	0	0	0	1	0	8	116					A	27256953	G	A	27256953	3	1	438	1	0	0	0	0	1	0	0	0	16134	971	34	2	176	2	TMEM214	2	27256953	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		27256953	215942420	8	37204											
INPP4A	3631	broad.mit.edu	37	chr2	99137191	99137191	+	Frame_Shift_Del	DEL	T	T	-													agcccattttagaatttagcTtaggtaggtatctttcatta							TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:99137191delT	ENST00000523221.1	+	2	148	c.148delT	c.(148-150)ttafs	p.L50fs	INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000074304.5_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409016.4_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	50	C2.				inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAATTTAGCTTAGGTAGGTA	0.303																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(148-150)tafs		inositol polyphosphate-4-phosphatase, type I, 107kDa							32	30	31					2																	99137191		1768	4003	5771	SO:0001589	frameshift_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99137191delT	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.148delT	2.37:g.99137191delT	ENSP00000427722:p.Leu50fs					INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409016.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000523221.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs	p.L50fs	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			4	541	+			50			C2.		O15326|Q13187|Q53TD8|Q8TC02	Frame_Shift_Del	DEL	ENST00000523221.1	37	c.148delT	CCDS46369.1																																																																																				0.303	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		2	4						2	4	---	---	---	---	-	99137191	T	-	99137191	7	5	438	1	0	1	0	1	0	0	0	0	7752	1606	56	0	154	0	INPP4A	2	99137191	Frame_Shift_Del	DEL	T	TCGA-S9-A6WQ-01A-12D-A34A-08	71880238	99137191	144062182	9	37205											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	57	0	0	0	1	0	27	57					T	209113112	C	T	209113112	3	4	438	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	109975921	209113112	34086261	10	37206											
FYCO1	79443	broad.mit.edu	37	chr3	46007981	46007981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcccagctacttggcGctccaggccctctcgctccc	9	20	1	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:46007981G>A	ENST00000296137.2	-	8	3050	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	949					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTACTTGGCGCTCCAGGCCC	0.652																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2845-2847)Cgc>Tgc		FYVE and coiled-coil domain containing 1							66	64	65					3																	46007981		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46007981G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2845C>T	3.37:g.46007981G>A	ENSP00000296137:p.Arg949Cys					FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	3050	-			949					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2845C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245428	0.10077	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.79033	-1.23;-1.23	5.39	-0.868	0.10652	.	0.888266	0.09830	N	0.750351	T	0.59662	0.2210	N	0.19112	0.55	0.09310	N	1	P;D	0.55605	0.941;0.972	B;B	0.42386	0.288;0.386	T	0.53027	-0.8496	10	0.56958	D	0.05	-0.2995	3.8072	0.08782	0.2827:0.0:0.3438:0.3735	.	949;949	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	C	949	ENSP00000296137:R949C;ENSP00000441178:R949C	ENSP00000296137:R949C	R	-	1	0	FYCO1	45982985	0.000000	0.05858	0.017000	0.16124	0.057000	0.15508	0.360000	0.20250	-0.530000	0.06349	-0.136000	0.14681	CGC		0.652	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		4	93	0	0	0	1	0	4	93					A	46007981	G	A	46007981	3	1	438	1	0	0	0	0	1	0	0	0	6125	1087	38	1	1635	1	FYCO1	3	46007981	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		46007981	152014449	11	37207											
SEMA3B	7869	broad.mit.edu	37	chr3	50308562	50308563	+	RNA	INS	-	-	G													ggaaggatagaggatggcaaINSggggaagagtccttatgacc							TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:50308562_50308563insG	ENST00000418948.1	+	0	728_729							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGGATGGCAAGGGGAAGAGTC	0.604																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B																																						7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50308562_50308563insG	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50308566_50308566dupG										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	728_729	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	INS	ENST00000418948.1	37																																																																																						0.604	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		2	4						2	4	---	---	---	---	G	50308563	-	G	50308562	6	5	438	0	1	1	1	0	0	0	0	0	14025	72	3	0		0	SEMA3B	3	50308562	RNA	INS	-	TCGA-S9-A6WQ-01A-12D-A34A-08	4300581	50308562	147713868	12	37208											
ATR	545	broad.mit.edu	37	chr3	142281245	142281245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagacttaagccgcatgagCacaccgtcttcaaacatgac	7	13	3	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:142281245C>T	ENST00000350721.4	-	4	1120	c.999G>A	c.(997-999)gtG>gtA	p.V333V	ATR_ENST00000383101.3_Silent_p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	333					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)			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						GCCGCATGAGCACACCGTCTT	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			0				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						c.(997-999)gtG>gtA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							79	81	80					3																	142281245		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281245C>T	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.999G>A	3.37:g.142281245C>T						ATR_ENST00000383101.3_Silent_p.V333V	p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1120	-			333					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.999G>A	CCDS3124.1																																																																																				0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	93	0	0	0	1	0	4	93					T	142281245	C	T	142281245	2	4	438	1	0	0	0	0	0	0	0	1	1204	697	25	2		2	ATR	3	142281245	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	91972683	142281245	55741185	13	37209											
GAR1	54433	broad.mit.edu	37	chr4	110739221	110739221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaattggaaaagtggatgAaatatttggacaactcagag	10	4	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:110739221A>C	ENST00000226796.6	+	3	608	c.344A>C	c.(343-345)gAa>gCa	p.E115A	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	115					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAGTGGATGAAATATTTGGA	0.333																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(343-345)gAa>gCa		GAR1 ribonucleoprotein							78	81	80					4																	110739221		2203	4300	6503	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110739221A>C	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)", "GAR1 ribonucleoprotein homolog (yeast)"	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.344A>C	4.37:g.110739221A>C	ENSP00000226796:p.Glu115Ala					GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			3	608	+			115					Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.344A>C	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420261	0.83559	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	4.78	4.78	0.61160	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	D	0.88668	0.3193	9	0.87932	D	0	.	14.6205	0.68582	1.0:0.0:0.0:0.0	.	115;115	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	A	115	.	ENSP00000226796:E115A	E	+	2	0	GAR1	110958670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.855000	0.92236	1.913000	0.55393	0.533000	0.62120	GAA		0.333	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			31	51	0	0	0	1	0	31	51					C	110739221	A	C	110739221	3	2	438	1	0	0	0	0	1	0	0	0	6240	246	9	5	350	5	GAR1	4	110739221	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08		110739221	80415055	14	37210											
DCHS2	54798	broad.mit.edu	37	chr4	155176790	155176790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaatactcaatcaggccGttcaaaccactgtccaagtc	6	12	3	1	rs200803727	byFrequency	TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1819	Cadherin 16. {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)		CAATCAGGCCGTTCAAACCAC	0.408													G|||	16	0.00319489	0.0	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0164					ENST00000357232.3																			0				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						c.(5455-5457)aaC>aaT		dachsous cadherin-related 2							108	99	102					4																	155176790		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155176790G>A	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.5457C>T	4.37:g.155176790G>A							p.N1819N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	21	5456	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1819			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.5457C>T	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		4	53	0	0	0	1	0	4	53					A	155176790	G	A	155176790	2	1	438	1	0	0	0	0	0	0	0	1	4288	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	44437569	155176790	35977486	15	37211											
RHAG	6005	broad.mit.edu	37	chr6	49583444	49583444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaagccaaagtaggccCcaaaggcatggatcgtcatt	10	12	1	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:49583444C>T	ENST00000371175.4	-	4	559	c.533G>A	c.(532-534)gGg>gAg	p.G178E	RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	178					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)					AAAGTAGGCCCCAAAGGCATG	0.468																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				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						c.(532-534)gGg>gAg		Rh-associated glycoprotein							119	112	114					6																	49583444		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49583444C>T		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.533G>A	6.37:g.49583444C>T	ENSP00000360217:p.Gly178Glu					RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			4	559	-	Lung NSC(77;0.0255)		178					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.533G>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019539	0.93462	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.37915	1.17;1.17	5.76	5.76	0.90799	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	H	0.96142	3.775	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	T	0.79950	-0.1587	10	0.87932	D	0	-15.0369	18.9695	0.92709	0.0:1.0:0.0:0.0	.	178;178;178	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	E	178	ENSP00000360217:G178E;ENSP00000229810:G178E	ENSP00000229810:G178E	G	-	2	0	RHAG	49691403	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.437000	0.80417	2.726000	0.93360	0.655000	0.94253	GGG		0.468	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			5	69	0	0	0	1	0	5	69					T	49583444	C	T	49583444	3	4	438	1	0	0	0	0	1	0	0	0	13315	623	22	2	724	2	RHAG	6	49583444	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		49583444	121531623	16	37212											
SYNE1	23345	broad.mit.edu	37	chr6	152706891	152706891	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcttcctttgctgaaTggagccaatctgtgaactcg	10	9	2	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:152706891T>C	ENST00000367255.5	-	55	9171	c.8570A>G	c.(8569-8571)cAt>cGt	p.H2857R	SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2857					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)		CTTTGCTGAATGGAGCCAATC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(8569-8571)cAt>cGt		spectrin repeat containing, nuclear envelope 1							185	176	179					6																	152706891		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706891T>C	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.8570A>G	6.37:g.152706891T>C	ENSP00000356224:p.His2857Arg	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R	p.H2857R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	55	9171	-		Ovarian(120;0.0955)	2857					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8570A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684255	0.47991	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50277	0.84;0.87;0.75;0.86;0.95	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000005	T	0.41236	0.1150	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.59357	0.985;0.964;0.964;0.979	P;P;P;P	0.49637	0.527;0.532;0.532;0.617	T	0.37267	-0.9713	10	0.13470	T	0.59	.	15.8829	0.79216	0.0:0.0:0.0:1.0	.	2840;2857;2857;2864	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2857;2864;2857;2864;2896	ENSP00000356224:H2857R;ENSP00000396024:H2864R;ENSP00000265368:H2857R;ENSP00000390975:H2864R;ENSP00000341887:H2896R	ENSP00000265368:H2857R	H	-	2	0	SYNE1	152748584	1.000000	0.71417	0.985000	0.45067	0.875000	0.50365	3.863000	0.56016	2.155000	0.67459	0.482000	0.46254	CAT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	113	0	0	0	1	0	34	113					C	152706891	T	C	152706891	3	2	438	1	0	0	0	0	1	0	0	0	15442	1464	51	3	18264	3	SYNE1	6	152706891	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	103123447	152706891	18408176	17	37213											
EGFR	1956	broad.mit.edu	37	chr7	55270224	55270224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgcaaagctgtccCatcaaggaagacagcttctt	9	12	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:55270224C>T	ENST00000275493.2	+	27	3354	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P	EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.P1014P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1059					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)	AAAGCTGTCCCATCAAGGAAG	0.547		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(3175-3177)ccC>ccT		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						85	64	72					7																	55270224		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55270224C>T		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.3177C>T	7.37:g.55270224C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000455089.1_Silent_p.P1014P	p.P1059P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		27	3354	+	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)		1059			Ser-rich.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.3177C>T	CCDS5514.1																																																																																				0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	13	0	0	0	1	0	5	13					T	55270224	C	T	55270224	2	4	438	1	0	0	0	0	0	0	0	1	4967	581	21	2		2	EGFR	7	55270224	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		55270224	103868439	18	37214											
CPA2	1358	broad.mit.edu	37	chr7	129906767	129906767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgccctttttgggcatAtctactgtctagaaacattt	8	8	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:129906767A>G	ENST00000222481.4	+	1	101	c.46A>G	c.(46-48)Atc>Gtc	p.I16V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	16					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTTTGGGCATATCTACTGTCT	0.403																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(46-48)Atc>Gtc		carboxypeptidase A2 (pancreatic)							251	226	234					7																	129906767		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906767A>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.46A>G	7.37:g.129906767A>G	ENSP00000222481:p.Ile16Val						p.I16V	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			1	101	+	Melanoma(18;0.0435)		16					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.46A>G	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	4.418	0.077225	0.08485	.	.	ENSG00000158516	ENST00000222481	T	0.09255	3.0	6.01	4.86	0.63082	.	0.280452	0.36444	N	0.002599	T	0.03520	0.0101	N	0.02181	-0.65	0.20563	N	0.999882	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43360	-0.9396	10	0.12103	T	0.63	.	7.5892	0.28010	0.8368:0.0:0.1632:0.0	.	14;16	B4DDX9;P48052	.;CBPA2_HUMAN	V	16	ENSP00000222481:I16V	ENSP00000222481:I16V	I	+	1	0	CPA2	129694003	0.742000	0.28228	0.845000	0.33349	0.809000	0.45718	0.547000	0.23299	1.113000	0.41760	0.456000	0.33151	ATC		0.403	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		20	160	0	0	0	1	0	20	160					G	129906767	A	G	129906767	3	3	438	1	0	0	0	0	1	0	0	0	3790	449	16	3	48	3	CPA2	7	129906767	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	74636543	129906767	29231896	19	37215											
LMBR1	64327	broad.mit.edu	37	chr7	156555850	156555850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacaggaatataaataggGtagatagaactcccagagat	9	5	0	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:156555850G>A	ENST00000353442.5	-	7	807	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	191					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TATAAATAGGGTAGATAGAAC	0.279																																						ENST00000353442.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(571-573)Ccc>Tcc		limb development membrane protein 1							27	30	29					7																	156555850		2195	4270	6465	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156555850G>A	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"chromosome 7 open reading frame 2", "limb region 1 homolog (mouse)"	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.571C>T	7.37:g.156555850G>A	ENSP00000326604:p.Pro191Ser					LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S	p.P191S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	7	807	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	191					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.571C>T	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458196	0.84317	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390;ENST00000347571	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.43	5.43	0.79202	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.80616	2.505	0.80722	D	1	P;D;D	0.89917	0.827;1.0;1.0	P;D;D	0.91635	0.531;0.995;0.999	T	0.69172	-0.5215	10	0.87932	D	0	-14.9973	18.8532	0.92241	0.0:0.0:1.0:0.0	.	170;191;191	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	S	191;39;189;191;170;191	ENSP00000326604:P191S;ENSP00000352392:P39S;ENSP00000408256:P189S;ENSP00000346500:P191S;ENSP00000445509:P170S	ENSP00000337803:P191S	P	-	1	0	LMBR1	156248611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.068000	0.76748	2.547000	0.85894	0.655000	0.94253	CCC		0.279	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458		4	48	0	0	0	1	0	4	48					A	156555850	G	A	156555850	3	1	438	1	0	0	0	0	1	0	0	0	8840	1261	44	2	945	2	LMBR1	7	156555850	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	26649083	156555850	2582813	20	37216											
GLIS3	169792	broad.mit.edu	37	chr9	3937135	3937135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcgcctgtgtggctccGcaagtggatcttgagatttt	11	10	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:3937135G>A	ENST00000324333.10	-	4	1493	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	434					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)		GTGTGGCTCCGCAAGTGGATC	0.498																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1300-1302)Cgg>Tgg		GLIS family zinc finger 3							96	97	97					9																	3937135		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3937135G>A	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.1300C>T	9.37:g.3937135G>A	ENSP00000325494:p.Arg434Trp					GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W|GLIS3_ENST00000461870.1_5'UTR	p.R434W	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	4	1493	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	434					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1300C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369998	0.61624	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.25579	1.79;1.79	5.94	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	U	0.000824	T	0.55033	0.1895	M	0.87547	2.89	0.58432	D	0.999995	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	0.64651	-0.6357	10	0.87932	D	0	.	13.4182	0.60980	0.0:0.0:0.6144:0.3856	.	102;102;589;434	Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	W	434;589	ENSP00000325494:R434W;ENSP00000371398:R589W	ENSP00000325494:R434W	R	-	1	2	GLIS3	3927135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.558000	0.23469	1.469000	0.48083	0.591000	0.81541	CGG		0.498	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		4	109	0	0	0	1	0	4	109					A	3937135	G	A	3937135	3	1	438	1	0	0	0	0	1	0	0	0	6447	1086	38	1	1055	1	GLIS3	9	3937135	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		3937135	137276296	21	37217											
EHMT1	79813	broad.mit.edu	37	chr9	140728828	140728828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttactgcatcgacgcgCggttctacgggaacgtcagc	13	11	2	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:140728828C>T	ENST00000460843.1	+	26	3595	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1190	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		CATCGACGCGCGGTTCTACGG	0.682																																						ENST00000460843.1																			0				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						c.(3568-3570)Cgg>Tgg		euchromatic histone-lysine N-methyltransferase 1							66	65	65					9																	140728828		2202	4300	6502	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140728828C>T	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.3568C>T	9.37:g.140728828C>T	ENSP00000417980:p.Arg1190Trp						p.R1190W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	26	3595	+	all_cancers(76;0.164)		1190			SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.3568C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017359	0.75161	.	.	ENSG00000181090	ENST00000460843	D	0.82081	-1.57	5.52	3.61	0.41365	SET domain (3);	0.106566	0.64402	D	0.000002	D	0.90314	0.6970	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90922	0.4784	10	0.87932	D	0	.	10.7975	0.46470	0.1303:0.801:0.0:0.0687	.	1190	Q9H9B1	EHMT1_HUMAN	W	1190	ENSP00000417980:R1190W	ENSP00000417980:R1190W	R	+	1	2	EHMT1	139848649	0.999000	0.42202	0.042000	0.18584	0.759000	0.43091	4.365000	0.59486	1.325000	0.45301	0.561000	0.74099	CGG		0.682	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		12	64	0	0	0	1	0	12	64					T	140728828	C	T	140728828	3	4	438	1	0	0	0	0	1	0	0	0	4983	759	27	1	3719	1	EHMT1	9	140728828	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	136791693	140728828	484603	22	37218											
ITPRIP	85450	broad.mit.edu	37	chr10	106075684	106075684	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcttctcctggtgcgcCtgcatcttgcggatgatctc	11	13	3	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:106075684C>G	ENST00000337478.1	-	2	297	c.126G>C	c.(124-126)caG>caC	p.Q42H	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.Q42H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	42						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGGTGCGCCTGCATCTTGC	0.657																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(124-126)caG>caC		inositol 1,4,5-trisphosphate receptor interacting protein							68	64	65					10																	106075684		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075684C>G	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.126G>C	10.37:g.106075684C>G	ENSP00000337178:p.Gln42His					ITPRIP_ENST00000337478.1_Missense_Mutation_p.Q42H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H	p.Q42H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	578	-			42					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.126G>C	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717283	0.48622	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.79	4.89	0.63831	.	0.215312	0.39475	N	0.001345	T	0.09686	0.0238	N	0.14661	0.345	0.29499	N	0.855045	P	0.45283	0.855	B	0.41510	0.359	T	0.03545	-1.1026	10	0.59425	D	0.04	-5.311	11.7688	0.51945	0.0:0.8589:0.0:0.1411	.	42	Q8IWB1	IPRI_HUMAN	H	42	ENSP00000337178:Q42H;ENSP00000278071:Q42H;ENSP00000350915:Q42H;ENSP00000414141:Q42H	ENSP00000278071:Q42H	Q	-	3	2	ITPRIP	106065674	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.529000	0.35996	1.440000	0.47531	0.563000	0.77884	CAG		0.657	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		39	52	0	0	0	1	0	39	52					G	106075684	C	G	106075684	3	3	438	1	0	0	0	0	1	0	0	0	7923	680	24	4	1521	4	ITPRIP	10	106075684	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		106075684	29459063	23	37219											
NLRP6	171389	broad.mit.edu	37	chr11	284541	284541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcttcggcagagccctgcCctgaccaccctggatctcag	10	16	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:284541C>T	ENST00000312165.5	+	7	2439	c.2439C>T	c.(2437-2439)gcC>gcT	p.A813A	RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Silent_p.A812A	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	813					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)		AGAGCCCTGCCCTGACCACCC	0.672																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2434-2436)gcC>gcT		NLR family, pyrin domain containing 6							32	31	31					11																	284541		2203	4300	6503	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:284541C>T	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.2439C>T	11.37:g.284541C>T						NLRP6_ENST00000312165.5_Silent_p.A813A	p.A812A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		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)	7	2641	+		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)	813					A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.2436C>T	CCDS7693.1																																																																																				0.672	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	18	0	0	0	1	0	5	18					T	284541	C	T	284541	2	4	438	1	0	0	0	0	0	0	0	1	10481	610	22	2		2	NLRP6	11	284541	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		284541	134721975	24	37220											
OR51F2	119694	broad.mit.edu	37	chr11	4843026	4843026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatggcctttgatcgtttTgtggccatctgttacccact	9	12	1	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:4843026T>G	ENST00000322110.5	+	1	476	c.411T>G	c.(409-411)ttT>ttG	p.F137L	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	137						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)		TTGATCGTTTTGTGGCCATCT	0.453																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(409-411)ttT>ttG		olfactory receptor, family 51, subfamily F, member 2							237	203	215					11																	4843026		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843026T>G	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.411T>G	11.37:g.4843026T>G	ENSP00000323952:p.Phe137Leu					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.F137L	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	476	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	137					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.411T>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330167	0.60743	.	.	ENSG00000176925	ENST00000322110	T	0.38401	1.14	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.183522	0.26279	U	0.025299	T	0.36963	0.0986	M	0.72576	2.205	0.27388	N	0.95522	P	0.51791	0.948	B	0.42422	0.387	T	0.47509	-0.9112	10	0.72032	D	0.01	.	8.3598	0.32353	0.0:0.0948:0.0:0.9052	.	137	Q8NH61	O51F2_HUMAN	L	137	ENSP00000323952:F137L	ENSP00000323952:F137L	F	+	3	2	OR51F2	4799602	0.147000	0.22687	1.000000	0.80357	0.896000	0.52359	0.831000	0.27476	1.991000	0.58162	0.459000	0.35465	TTT		0.453	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		63	124	0	0	0	1	0	63	124					G	4843026	T	G	4843026	3	3	438	1	0	0	0	0	1	0	0	0	11097	1809	63	5	413	5	OR51F2	11	4843026	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	4558485	4843026	130163490	25	37221											
CTR9	9646	broad.mit.edu	37	chr11	10785379	10785379	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactatgaaaattctcggcTctctctatgctgcctcagaa	6	11	4	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:10785379T>G	ENST00000361367.2	+	9	1573	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	383					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|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)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCTCGGCTCTCTCTATGC	0.353																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1147-1149)Tct>Gct		CTR9, Paf1/RNA polymerase II complex component							78	84	82					11																	10785379		2200	4294	6494	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10785379T>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1147T>G	11.37:g.10785379T>G	ENSP00000355013:p.Ser383Ala						p.S383A	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1573	+			383					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1147T>G	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754648	0.89843	.	.	ENSG00000198730	ENST00000361367	T	0.50001	0.76	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.86651	2.83	0.80722	D	1	D	0.53745	0.962	P	0.46885	0.53	T	0.62676	-0.6804	10	0.17369	T	0.5	-16.5042	16.1172	0.81314	0.0:0.0:0.0:1.0	.	383	Q6PD62	CTR9_HUMAN	A	383	ENSP00000355013:S383A	ENSP00000355013:S383A	S	+	1	0	CTR9	10741955	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.886000	0.87288	2.266000	0.75297	0.533000	0.62120	TCT		0.353	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		25	87	0	0	0	1	0	25	87					G	10785379	T	G	10785379	3	3	438	1	0	0	0	0	1	0	0	0	4024	1551	54	5	1181	5	CTR9	11	10785379	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	5942353	10785379	124221137	26	37222											
SSSCA1	10534	broad.mit.edu	37	chr11	65337966	65337966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgacaacggcaacatgGccctgaacggagctggtgag	16	10	0	3	rs139666819		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:65337966G>A	ENST00000309328.3	+	1	66	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	SSSCA1_ENST00000527920.1_5'UTR|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_5'UTR|FAM89B_ENST00000530349.1_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000526877.1_Missense_Mutation_p.A2T|FAM89B_ENST00000449319.2_5'Flank	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	2					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGGCAACATGGCCCTGAACGG	0.677																																						ENST00000526877.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(4-6)Gcc>Acc		Sjogren syndrome/scleroderma autoantigen 1							59	59	59					11																	65337966		2201	4297	6498	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65337966G>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.4G>A	11.37:g.65337966G>A	ENSP00000312318:p.Ala2Thr					SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A2T|SSSCA1_ENST00000527920.1_5'UTR	p.A2T			O60232	SSA27_HUMAN			1	9	+			2						Missense_Mutation	SNP	ENST00000309328.3	37	c.4G>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543030	0.65198	.	.	ENSG00000173465	ENST00000309328;ENST00000526877	T;T	0.58358	0.34;0.38	5.54	4.62	0.57501	.	0.125057	0.53938	D	0.000060	T	0.62744	0.2453	L	0.43152	1.355	0.43527	D	0.995803	D	0.63880	0.993	D	0.68192	0.956	T	0.65344	-0.6191	10	0.87932	D	0	-10.7983	11.7802	0.52010	0.0:0.0:0.824:0.176	.	2	O60232	SSA27_HUMAN	T	2	ENSP00000312318:A2T;ENSP00000431666:A2T	ENSP00000312318:A2T	A	+	1	0	SSSCA1	65094542	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.248000	0.58760	1.321000	0.45227	0.561000	0.74099	GCC		0.677	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		5	61	0	0	0	1	0	5	61					A	65337966	G	A	65337966	3	1	438	1	0	0	0	0	1	0	0	0	15194	1203	42	2	6	2	SSSCA1	11	65337966	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	54552587	65337966	69668550	27	37223											
PELI3	246330	broad.mit.edu	37	chr11	66243444	66243444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaggccggcctctgcCtggaccctgggccgcctagc	15	17	1	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:66243444C>T	ENST00000320740.7	+	8	1376	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	PELI3_ENST00000349459.6_Silent_p.L382L|CTD-3074O7.5_ENST00000525142.1_RNA|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	406					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGGCCTCTGCCTGGACCCTGG	0.692																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1144-1146)Ctg>Ttg		pellino E3 ubiquitin protein ligase family member 3							22	21	21					11																	66243444		2158	4221	6379	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66243444C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1216C>T	11.37:g.66243444C>T						PELI3_ENST00000320740.7_Silent_p.L406L|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_3'UTR	p.L382L	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1428	+			406					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.1144C>T	CCDS31615.1																																																																																				0.692	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		15	39	0	0	0	1	0	15	39					T	66243444	C	T	66243444	2	4	438	1	0	0	0	0	0	0	0	1	11723	680	24	2		2	PELI3	11	66243444	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	905478	66243444	68763072	28	37224											
RELT	84957	broad.mit.edu	37	chr11	73103387	73103387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccagtacgcggtcatcGccatcgtccctgtcttctgc	9	18	3	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:73103387G>A	ENST00000064780.2	+	6	760	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RELT_ENST00000393580.2_Missense_Mutation_p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	167						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CGCGGTCATCGCCATCGTCCC	0.677																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(499-501)Gcc>Acc		RELT tumor necrosis factor receptor							65	65	65					11																	73103387		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73103387G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.499G>A	11.37:g.73103387G>A	ENSP00000064780:p.Ala167Thr					RELT_ENST00000393580.2_Missense_Mutation_p.A167T	p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			6	760	+			167					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.499G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539860	0.85917	.	.	ENSG00000054967	ENST00000064780;ENST00000393580	T;T	0.78707	-1.2;-1.2	5.57	5.57	0.84162	.	0.057310	0.64402	D	0.000002	T	0.81133	0.4759	L	0.39898	1.24	0.46185	D	0.998919	D	0.76494	0.999	D	0.66979	0.948	T	0.80890	-0.1180	10	0.51188	T	0.08	-22.4	10.5818	0.45259	0.0878:0.0:0.9122:0.0	.	167	Q969Z4	TR19L_HUMAN	T	167	ENSP00000064780:A167T;ENSP00000377207:A167T	ENSP00000064780:A167T	A	+	1	0	RELT	72781035	1.000000	0.71417	0.969000	0.41365	0.660000	0.38997	5.502000	0.66956	2.619000	0.88677	0.561000	0.74099	GCC		0.677	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		4	30	0	0	0	1	0	4	30					A	73103387	G	A	73103387	3	1	438	1	0	0	0	0	1	0	0	0	13221	1087	38	1	517	1	RELT	11	73103387	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	6859943	73103387	61903129	29	37225											
PCBP2	5094	broad.mit.edu	37	chr12	53849149	53849149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagttggcagtatcatcGgaaaggtaagacaatttcac	11	6	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr12:53849149G>A	ENST00000439930.3	+	2	110	c.88G>A	c.(88-90)Gga>Aga	p.G30R	PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000603815.1_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	30	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTATCATCGGAAAGGTAAG	0.338																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(88-90)Gga>Aga		poly(rC) binding protein 2							104	101	102					12																	53849149		2203	4300	6503	SO:0001583	missense	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53849149G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.88G>A	12.37:g.53849149G>A	ENSP00000408949:p.Gly30Arg					PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000439930.3_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R	p.G30R	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			3	438	+			30			KH 1.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	ENST00000439930.3	37	c.88G>A	CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178940	0.78564	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000546463;ENST00000550192;ENST00000551104;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652	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	5.23	5.23	0.72850	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.052241	0.85682	N	0.000000	D	0.95918	0.8671	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.967;0.991;0.992;0.995;0.989;0.971;0.991;0.991	D;P;D;D;D;D;D;P;D	0.73380	0.98;0.709;0.924;0.971;0.95;0.921;0.952;0.898;0.967	D	0.96508	0.9376	10	0.87932	D	0	.	12.7719	0.57426	0.0:0.0:0.8359:0.1641	.	30;30;30;30;30;30;30;30;30	B4DLC0;F8VRG9;Q15366;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.	R	30;30;30;30;30;30;30;30;30;30;30;30;30;30;30;11	ENSP00000446130:G30R;ENSP00000352228:G30R;ENSP00000394116:G30R;ENSP00000390304:G30R;ENSP00000408949:G30R;ENSP00000447670:G30R;ENSP00000352438:G30R;ENSP00000448762:G30R;ENSP00000448079:G30R;ENSP00000446601:G30R;ENSP00000448927:G30R;ENSP00000449070:G30R;ENSP00000388008:G30R;ENSP00000449062:G30R	ENSP00000352228:G30R	G	+	1	0	PCBP2	52135416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.199000	0.77831	2.724000	0.93272	0.650000	0.86243	GGA		0.338	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		18	37	0	0	0	1	0	18	37					A	53849149	G	A	53849149	3	1	438	1	0	0	0	0	1	0	0	0	11501	1117	39	1	94	1	PCBP2	12	53849149	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		53849149	80002746	30	37226											
MGA	23269	broad.mit.edu	37	chr15	41961363	41961363	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggaatgagttctatcatCgaagcacagagatgattctg	11	6	3	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:41961363C>T	ENST00000570161.1	+	1	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R91*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	GTTCTATCATCGAAGCACAGA	0.383																																						ENST00000219905.7																			0				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						c.(271-273)Cga>Tga		MGA, MAX dimerization protein							129	126	127					15																	41961363		1913	4132	6045	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961363C>T	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.271C>T	15.37:g.41961363C>T	ENSP00000457035:p.Arg91*					MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R91*|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*	p.R91*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		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)	2	452	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	91					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.271C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	36	5.836348	0.97009	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.51	2.45	0.29901	.	0.162603	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5027	0.33168	0.3992:0.5333:0.0:0.0675	.	.	.	.	X	91	.	ENSP00000219905:R91X	R	+	1	2	MGA	39748655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.487000	0.45268	0.319000	0.23209	0.650000	0.86243	CGA		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	88	0	0	0	1	0	5	88					T	41961363	C	T	41961363	4	4	438	1	0	0	0	0	0	1	0	0	9540	876	31	1	273	1	MGA	15	41961363	Nonsense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		41961363	60570029	31	37227											
NEO1	4756	broad.mit.edu	37	chr15	73536774	73536774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtacatctttagagttaTggctcaaaataagcatggct	9	7	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:73536774T>C	ENST00000339362.5	+	10	1988	c.1541T>C	c.(1540-1542)aTg>aCg	p.M514T	NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T|NEO1_ENST00000261908.6_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	514	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						TTTAGAGTTATGGCTCAAAAT	0.473																																						ENST00000339362.5																			0				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						c.(1540-1542)aTg>aCg		neogenin 1							131	109	116					15																	73536774		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73536774T>C	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.1541T>C	15.37:g.73536774T>C	ENSP00000341198:p.Met514Thr					NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Missense_Mutation_p.M514T	p.M514T			Q92859	NEO1_HUMAN			10	1988	+			514			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1541T>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714276	0.48622	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.55052	0.54;0.54	5.78	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.306264	0.40064	N	0.001188	T	0.31544	0.0800	N	0.05383	-0.06	0.43579	D	0.995918	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.011;0.011;0.011	T	0.06409	-1.0828	10	0.35671	T	0.21	-1.8687	10.5608	0.45144	0.0:0.0796:0.0:0.9204	.	514;514;252;514	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	514;252;514	ENSP00000341198:M514T;ENSP00000261908:M514T	ENSP00000261908:M514T	M	+	2	0	NEO1	71323827	1.000000	0.71417	0.820000	0.32676	0.979000	0.70002	2.333000	0.43912	0.999000	0.39023	0.528000	0.53228	ATG		0.473	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		19	58	0	0	0	1	0	19	58					C	73536774	T	C	73536774	3	2	438	1	0	0	0	0	1	0	0	0	10336	1464	51	3	1575	3	NEO1	15	73536774	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	31575411	73536774	28994618	32	37228											
RPS2	6187	broad.mit.edu	37	chr16	2012755	2012755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgcaagggacagtgtgGggcttgccgatcttgttccc	13	11	1	0	rs200947241		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:2012755G>A	ENST00000343262.4	-	5	587	c.531C>T	c.(529-531)ccC>ccT	p.P177P	RPS2_ENST00000526522.1_Intron|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Silent_p.P147P|SNORA64_ENST00000384674.1_RNA|SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000530225.1_Silent_p.P177P	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	177					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 transferase activity (GO:0051347)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGACAGTGTGGGGCTTGCCGA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.001		0.0	False		,,,				2504	0.0					ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(439-441)ccC>ccT		ribosomal protein S2							18	18	18					16																	2012755		2196	4296	6492	SO:0001819	synonymous_variant	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2012755G>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.531C>T	16.37:g.2012755G>A						RPS2_ENST00000343262.4_Silent_p.P177P|RPS2_ENST00000526522.1_Intron|RPS2_ENST00000530225.1_Silent_p.P177P	p.P147P			P15880	RS2_HUMAN			3	627	-			177			S5 DRBM.		B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	c.441C>T	CCDS10452.1																																																																																				0.672	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		8	12	0	0	0	1	0	8	12					A	2012755	G	A	2012755	2	1	438	1	0	0	0	0	0	0	0	1	13631	1219	43	2		2	RPS2	16	2012755	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		2012755	88341998	33	37229											
SNX20	124460	broad.mit.edu	37	chr16	50707378	50707378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcggggcgtgggcctcCggagctggctctcctccagc	15	16	1	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:50707378C>T	ENST00000330943.4	-	4	1061	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGTGGGCCTCCGGAGCTGGCT	0.667																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(889-891)cGg>cAg		sorting nexin 20							39	43	42					16																	50707378		2193	4297	6490	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707378C>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.890G>A	16.37:g.50707378C>T	ENSP00000332062:p.Arg297Gln					SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R297Q	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	1061	-			297					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.890G>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378979	0.24944	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.29655	1.56	5.67	2.22	0.28083	.	0.593626	0.16759	N	0.200718	T	0.20129	0.0484	L	0.38838	1.175	0.25478	N	0.987768	B	0.29037	0.231	B	0.18561	0.022	T	0.12656	-1.0539	10	0.26408	T	0.33	-34.8905	9.464	0.38802	0.0:0.683:0.0:0.317	.	297	Q7Z614	SNX20_HUMAN	Q	297;133	ENSP00000332062:R297Q	ENSP00000332062:R297Q	R	-	2	0	SNX20	49264879	0.017000	0.18338	0.728000	0.30774	0.891000	0.51852	0.564000	0.23563	0.761000	0.33130	0.561000	0.74099	CGG		0.667	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		30	79	0	0	0	1	0	30	79					T	50707378	C	T	50707378	3	4	438	1	0	0	0	0	1	0	0	0	14892	652	23	1	207	1	SNX20	16	50707378	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	48694623	50707378	39647375	34	37230											
PSMB10	5699	broad.mit.edu	37	chr16	67970346	67970346	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcccggtcttgcgtgcgtgAgggaccttgagccccgggag	17	12	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:67970346A>T	ENST00000358514.4	-	2	436	c.99T>A	c.(97-99)ccT>ccA	p.P33P	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	33					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)	TGCGTGCGTGAGGGACCTTGA	0.637																																						ENST00000358514.4																			0				NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(97-99)ccT>ccA		proteasome (prosome, macropain) subunit, beta type, 10							50	46	47					16																	67970346		2198	4300	6498	SO:0001819	synonymous_variant	5699				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr16:67970346A>T	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.99T>A	16.37:g.67970346A>T							p.P33P	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	2	436	-		Ovarian(137;0.0563)	33					B2R5J4|Q5U098	Silent	SNP	ENST00000358514.4	37	c.99T>A	CCDS10853.1																																																																																				0.637	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268887.1	NM_002801		6	24	0	0	0	1	0	6	24					T	67970346	A	T	67970346	2	4	438	1	0	0	0	0	0	0	0	1	12675	291	11	5		5	PSMB10	16	67970346	Silent	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	17262968	67970346	22384407	35	37231											
TP53	7157	broad.mit.edu	37	chr17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtgcgccggtctctcCcaggacaggcacaaacacgc	10	17	2	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7577102C>T	ENST00000269305.4	-	8	1025	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G279E	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	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(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.R280fs*62(1)|p.G279fs*26(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)	CCGGTCTCTCCCAGGACAGGC	0.547		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(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.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(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						c.(835-837)gGg>gAg	Other conserved DNA damage response genes	tumor protein p53							75	65	68					17																	7577102		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577102C>T	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.836G>A	17.37:g.7577102C>T	ENSP00000269305:p.Gly279Glu	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)				TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G279E	p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	968	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.836G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753775	0.89753	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	4.16	0.48862	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	0.99883	0.9944	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	279;279;279;279;279;268;147	ENSP00000352610:G279E;ENSP00000269305:G279E;ENSP00000398846:G279E;ENSP00000391127:G279E;ENSP00000391478:G279E;ENSP00000425104:G147E	ENSP00000269305:G279E	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	20	0	0	0	1	0	7	20					T	7577102	C	T	7577102	3	4	438	1	0	0	0	0	1	0	0	0	16378	623	22	2	450	2	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		7577102	73618108	36	37232											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1	rs587780070		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7578395G>C	ENST00000269305.4	-	5	724	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Gat	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>C	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.535C>G	17.37:g.7578395G>C	ENSP00000269305:p.His179Asp	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)				TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D	p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.535C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013188	0.93346	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99907	-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99904	0.9954	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.955;0.998;0.972;1.0;0.991;0.998;0.98	D	0.96140	0.9099	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179D;ENSP00000352610:H179D;ENSP00000269305:H179D;ENSP00000398846:H179D;ENSP00000391127:H179D;ENSP00000391478:H179D;ENSP00000425104:H47D;ENSP00000423862:H86D	ENSP00000269305:H179D	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	45	0	0	0	1	0	29	45					C	7578395	G	C	7578395	3	2	438	1	0	0	0	0	1	0	0	0	16378	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	1293	7578395	73616815	37	37233											
ZNF624	57547	broad.mit.edu	37	chr17	16537944	16537944	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagaagttatccttacCcagggagaccagattcctgt	10	9	0	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:16537944C>T	ENST00000311331.7	-	4	371	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	94	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(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTATCCTTACCCAGGGAGACC	0.433																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.e4+1		zinc finger protein 624							132	119	123					17																	16537944		2203	4300	6503	SO:0001630	splice_region_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16537944C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.280+1G>A	17.37:g.16537944C>T						ZNF624_ENST00000579983.1_5'UTR	p.G94_splice	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	4	371	-			94			KRAB.		Q3SY62|Q3SY63|Q6ZN27	Splice_Site	SNP	ENST00000311331.7	37	c.280_splice	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227935	0.22542	.	.	ENSG00000197566	ENST00000311331;ENST00000423860	T;T	0.02863	4.13;4.13	3.69	3.69	0.42338	Krueppel-associated box (4);	.	.	.	.	T	0.18759	0.0450	M	0.90425	3.115	0.32407	N	0.551185	D	0.76494	0.999	D	0.91635	0.999	T	0.20009	-1.0288	8	.	.	.	.	13.3585	0.60642	0.0:1.0:0.0:0.0	.	94	Q9P2J8	ZN624_HUMAN	R	94	ENSP00000310472:G94R;ENSP00000406525:G94R	.	G	-	1	0	ZNF624	16478669	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	4.125000	0.57931	2.076000	0.62316	0.555000	0.69702	GGG		0.433	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	Missense_Mutation	21	69	0	0	0	1	0	21	69					T	16537944	C	T	16537944	5	4	438	1	0	0	0	0	0	0	1	0	18045	637	22	2	2329	2	ZNF624	17	16537944	Splice_Site	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	8959549	16537944	64657266	38	37234											
UNC45B	146862	broad.mit.edu	37	chr17	33498419	33498419	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacgatgtcaaggaggtcAtcccagagcttgtccagctc	11	12	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:33498419A>G	ENST00000268876.5	+	13	1871	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	592					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAAGGAGGTCATCCCAGAGCT	0.607											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1774-1776)Atc>Gtc		unc-45 homolog B (C. elegans)							154	126	136					17																	33498419		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33498419A>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1774A>G	17.37:g.33498419A>G	ENSP00000268876:p.Ile592Val		OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V	p.I592V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			13	1871	+		Ovarian(249;0.17)	592					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1774A>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	6.389	0.439934	0.12104	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.47177	3.63;1.55;0.85	5.87	2.49	0.30216	Armadillo-type fold (1);	0.151125	0.56097	N	0.000025	T	0.26231	0.0640	L	0.27053	0.805	0.32213	N	0.576251	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.32929	-0.9888	10	0.05436	T	0.98	-21.1093	7.7802	0.29060	0.677:0.0:0.323:0.0	.	511;590;592	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	592;592;590;511	ENSP00000268876:I592V;ENSP00000412840:I590V;ENSP00000367710:I511V	ENSP00000268876:I592V	I	+	1	0	UNC45B	30522532	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.998000	0.29744	0.581000	0.29539	0.533000	0.62120	ATC		0.607	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		32	63	0	0	0	1	0	32	63					G	33498419	A	G	33498419	3	3	438	1	0	0	0	0	1	0	0	0	16986	217	8	3	1820	3	UNC45B	17	33498419	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	16960475	33498419	47696791	39	37235											
TWSG1	57045	broad.mit.edu	37	chr18	9359985	9359985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaggagctctgccagtgcCggccgggagaaggcaattgc	15	11	2	1	rs200630425		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:9359985C>T	ENST00000262120.5	+	3	330	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	47	Cys-rich.				BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CTGCCAGTGCCGGCCGGGAGA	0.448																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(139-141)Cgg>Tgg		twisted gastrulation BMP signaling modulator 1							92	89	90					18																	9359985		2203	4300	6503	SO:0001583	missense	57045							g.chr18:9359985C>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"twisted gastrulation homolog 1 (Drosophila)"			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.139C>T	18.37:g.9359985C>T	ENSP00000262120:p.Arg47Trp					TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			3	330	+			47			Cys-rich.		B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	c.139C>T	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346229	0.82022	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	P	0.61874	0.895	T	0.74719	-0.3570	9	0.87932	D	0	-27.3611	17.952	0.89056	0.0:1.0:0.0:0.0	.	47	Q9GZX9	TWSG1_HUMAN	W	47	.	ENSP00000262120:R47W	R	+	1	2	TWSG1	9349985	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.334000	0.52097	2.836000	0.97738	0.650000	0.86243	CGG		0.448	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			4	39	0	0	0	1	0	4	39					T	9359985	C	T	9359985	3	4	438	1	0	0	0	0	1	0	0	0	16782	643	23	1	145	1	TWSG1	18	9359985	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		9359985	68717263	40	37236											
CCBE1	147372	broad.mit.edu	37	chr18	57136753	57136753	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctctcccggtcatatcGgtatcccggataacaagtac	9	12	2	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:57136753G>A	ENST00000439986.4	-	4	389	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	118					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGTCATATCGGTATCCCGGA	0.517																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(352-354)Cga>Tga		collagen and calcium binding EGF domains 1							206	175	185					18																	57136753		2203	4300	6503	SO:0001587	stop_gained	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57136753G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.352C>T	18.37:g.57136753G>A	ENSP00000404464:p.Arg118*					CCBE1_ENST00000398179.2_5'UTR	p.R118*	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			4	389	-		Colorectal(73;0.175)	118					Q6MZX5|Q86SS2|Q8TF19	Nonsense_Mutation	SNP	ENST00000439986.4	37	c.352C>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460084	0.96240	.	.	ENSG00000183287	ENST00000439986	.	.	.	5.7	3.87	0.44632	.	0.133104	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5878	8.3429	0.32254	0.0794:0.0:0.7668:0.1538	.	.	.	.	X	118	.	ENSP00000404464:R118X	R	-	1	2	CCBE1	55287733	1.000000	0.71417	0.789000	0.31954	0.593000	0.36681	5.324000	0.65863	0.716000	0.32124	0.650000	0.86243	CGA		0.517	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		54	92	0	0	0	1	0	54	92					A	57136753	G	A	57136753	4	1	438	1	0	0	0	0	0	1	0	0	2731	1124	39	1	900	1	CCBE1	18	57136753	Nonsense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	47776768	57136753	20940495	41	37237											
AKAP8	10270	broad.mit.edu	37	chr19	15472604	15472604	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgacgccgcttctcAattttcttatttctgtttac	4	11	3	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:15472604A>C	ENST00000269701.2	-	11	1392	c.1332T>G	c.(1330-1332)atT>atG	p.I444M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	444					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCGCTTCTCAATTTTCTTAT	0.448																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1330-1332)atT>atG		A kinase (PRKA) anchor protein 8							135	123	127					19																	15472604		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15472604A>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1332T>G	19.37:g.15472604A>C	ENSP00000269701:p.Ile444Met						p.I444M	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			11	1392	-			444						Missense_Mutation	SNP	ENST00000269701.2	37	c.1332T>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650061	0.47362	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.47869	0.83	5.82	-6.61	0.01818	.	0.098442	0.43747	N	0.000531	T	0.38134	0.1029	N	0.22421	0.69	0.25504	N	0.987522	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	T	0.37686	-0.9695	10	0.48119	T	0.1	-21.1011	2.6457	0.04983	0.3642:0.0788:0.3491:0.2078	.	444;444	Q8NE02;O43823	.;AKAP8_HUMAN	M	444;193	ENSP00000269701:I444M	ENSP00000269701:I444M	I	-	3	3	AKAP8	15333604	0.901000	0.30685	0.572000	0.28498	0.389000	0.30415	-0.121000	0.10643	-1.167000	0.02779	-0.385000	0.06624	ATT		0.448	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		15	78	0	0	0	1	0	15	78					C	15472604	A	C	15472604	3	2	438	1	0	0	0	0	1	0	0	0	457	126	5	5	762	5	AKAP8	19	15472604	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08		15472604	43656379	42	37238											
POLD1	5424	broad.mit.edu	37	chr19	50910398	50910398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgctcagtcgtggccaGcaggtcaaggtcgtatccca	11	13	2	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:50910398G>A	ENST00000440232.2	+	13	1706	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	POLD1_ENST00000595904.1_Silent_p.Q551Q|POLD1_ENST00000599857.1_Silent_p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	551					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)		GTCGTGGCCAGCAGGTCAAGG	0.662								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				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						c.(1651-1653)caG>caA	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							63	55	58					19																	50910398		2203	4300	6503	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50910398G>A		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.1653G>A	19.37:g.50910398G>A						POLD1_ENST00000599857.1_Silent_p.Q551Q|POLD1_ENST00000595904.1_Silent_p.Q551Q	p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	13	1706	+		all_neural(266;0.0571)	551					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.1653G>A	CCDS12795.1																																																																																				0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			11	45	0	0	0	1	0	11	45					A	50910398	G	A	50910398	2	1	438	1	0	0	0	0	0	0	0	1	12190	962	34	2		2	POLD1	19	50910398	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	35437794	50910398	8218585	43	37239											
ZNF347	84671	broad.mit.edu	37	chr19	53644840	53644840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagtgatttgtaaggtgtGaattttgagtgaagaccttg	12	4	0	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:53644840G>T	ENST00000334197.7	-	5	1309	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.S415*|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	414					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)		TGTAAGGTGTGAATTTTGAGT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1243-1245)tCa>tAa		zinc finger protein 347							109	111	111					19																	53644840		2203	4300	6503	SO:0001587	stop_gained	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644840G>T	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.1241C>A	19.37:g.53644840G>T	ENSP00000334146:p.Ser414*					ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S414*	p.S415*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1670	-			414					B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	ENST00000334197.7	37	c.1244C>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286729	0.59867	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	.	.	.	2.85	-1.81	0.07882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2007	0.01884	0.456:0.157:0.2271:0.1598	.	.	.	.	X	414;415	.	ENSP00000334146:S414X	S	-	2	0	ZNF347	58336652	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.934000	0.01552	-0.165000	0.10908	-0.136000	0.14681	TCA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		10	181	1	0	1.58986e-06	1	1.69412e-06	10	181					T	53644840	G	T	53644840	4	4	438	1	0	0	0	0	0	1	0	0	17858	1294	45	4	1282	4	ZNF347	19	53644840	Nonsense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	2734442	53644840	5484143	44	37240											
NKX2-2	4821	broad.mit.edu	37	chr20	21492758	21492759	+	Frame_Shift_Del	DEL	CC	CC	-													acatggtttgccgtccctgaCcaagacgggcacggccaccc							TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:21492758_21492759delCC	ENST00000377142.4	-	2	980_981	c.624_625delGG	c.(622-627)ttggtcfs	p.LV208fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	208					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGTCCCTGACCAAGACGGGCA	0.668																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(622-627)tttcfs		NK2 homeobox 2																																				SO:0001589	frameshift_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492758_21492759delCC	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.624_625delGG	20.37:g.21492758_21492759delCC	ENSP00000366347:p.Leu208fs					NKX2-2-AS1_ENST00000549659.1_RNA	p.LV208fs	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	980_981	-			208						Frame_Shift_Del	DEL	ENST00000377142.4	37	c.624_625delGG	CCDS13145.1																																																																																				0.668	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			11	35						11	35	---	---	---	---	-	21492759	CC	-	21492758	7	5	438	1	0	1	0	1	0	0	0	0	10450	507	18	0	200	0	NKX2-2	20	21492758	Frame_Shift_Del	DEL	CC	TCGA-S9-A6WQ-01A-12D-A34A-08		21492758	41532762	45	37241											
TPD52L2	7165	broad.mit.edu	37	chr20	62500710	62500710	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccatgacggatgttcctgtCgacacaggtgtggctgcccg	13	12	0	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:62500710C>T	ENST00000346249.4	+	2	157	c.81C>T	c.(79-81)gtC>gtT	p.V27V	TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000217121.5_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	27					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)					ATGTTCCTGTCGACACAGGTG	0.532																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(79-81)gtC>gtT		tumor protein D52-like 2							110	105	107					20																	62500710		2203	4300	6503	SO:0001819	synonymous_variant	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62500710C>T	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.81C>T	20.37:g.62500710C>T						TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000346249.4_Silent_p.V27V|TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V	p.V27V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			2	153	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		27					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Silent	SNP	ENST00000346249.4	37	c.81C>T	CCDS13540.1																																																																																				0.532	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			4	109	0	0	0	1	0	4	109					T	62500710	C	T	62500710	2	4	438	1	0	0	0	0	0	0	0	1	16396	871	31	1		1	TPD52L2	20	62500710	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	41007952	62500710	524810	46	37242											
TPTE	7179	broad.mit.edu	37	chr21	10921985	10921985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggcacaaaccatagtTcctgttctatctagaaaaga	8	8	2	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:10921985T>C	ENST00000361285.4	-	18	1367	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.G328G|TPTE_ENST00000342420.5_Silent_p.G308G	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAACCATAGTTCCTGTTCTAT	0.328																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(982-984)ggA>ggG		transmembrane phosphatase with tensin homology							132	112	119					21																	10921985		2203	4299	6502	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921985T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1038A>G	21.37:g.10921985T>C						TPTE_ENST00000361285.4_Silent_p.G346G|TPTE_ENST00000342420.5_Silent_p.G308G|TPTE_ENST00000415664.2_5'UTR	p.G328G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1351	-			346			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.984A>G	CCDS13560.2																																																																																				0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	84	0	0	0	1	0	7	84					C	10921985	T	C	10921985	2	2	438	1	0	0	0	0	0	0	0	1	16427	1770	62	3		3	TPTE	21	10921985	Silent	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08		10921985	37207910	47	37243											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296628	28296628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacaaaaaagctataaCggacatctaatggtttagtg	10	5	1	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:28296628C>T	ENST00000284987.5	-	8	2658	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	846	Spacer.				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						AAAGCTATAACGGACATCTAA	0.468																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				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						c.(2536-2538)cGt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 5							120	124	123					21																	28296628		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296628C>T	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.2537G>A	21.37:g.28296628C>T	ENSP00000284987:p.Arg846His					AP001601.2_ENST00000426771.1_RNA	p.R846H	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2658	-			846			Spacer.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2537G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808633	0.70797	.	.	ENSG00000154736	ENST00000284987	T	0.52526	0.66	6.07	6.07	0.98685	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58289	-0.7662	10	0.41790	T	0.15	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	846	Q9UNA0	ATS5_HUMAN	H	846	ENSP00000284987:R846H	ENSP00000284987:R846H	R	-	2	0	ADAMTS5	27218499	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.755000	0.68750	2.884000	0.98904	0.655000	0.94253	CGT		0.468	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			8	110	0	0	0	1	0	8	110					T	28296628	C	T	28296628	3	4	438	1	0	0	0	0	1	0	0	0	269	536	19	1	259	1	ADAMTS5	21	28296628	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	17374643	28296628	19833267	48	37244											
NOL12	79159	broad.mit.edu	37	chr22	38084873	38084873	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acagaggaggcagatgagctGgaccggttggtgacagcaaa	16	7	0	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:38084873G>C	ENST00000359114.4	+	4	325	c.255G>C	c.(253-255)ctG>ctC	p.L85L	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	85						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGATGAGCTGGACCGGTTGG	0.637																																						ENST00000359114.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(253-255)ctG>ctC		nucleolar protein 12							161	131	141					22																	38084873		2203	4300	6503	SO:0001819	synonymous_variant	79159					nucleolus	rRNA binding	g.chr22:38084873G>C	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.255G>C	22.37:g.38084873G>C						NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	p.L85L	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			4	325	+	Melanoma(58;0.0574)		85						Silent	SNP	ENST00000359114.4	37	c.255G>C	CCDS13955.1																																																																																				0.637	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		4	95	0	0	0	1	0	4	95					C	38084873	G	C	38084873	2	2	438	1	0	0	0	0	0	0	0	1	10522	1335	47	4		4	NOL12	22	38084873	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		38084873	13219693	49	37245											
ALG12	79087	broad.mit.edu	37	chr22	50297602	50297602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccccacgacgctggccaGgacccggtgtgtgtccctgt	14	15	0	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:50297602G>T	ENST00000330817.6	-	10	1624	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	451					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTGGCCAGGACCCGGTGT	0.637																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1351-1353)Ctg>Atg		ALG12, alpha-1,6-mannosyltransferase							67	70	69					22																	50297602		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297602G>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1351C>A	22.37:g.50297602G>T	ENSP00000333813:p.Leu451Met						p.L451M	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1624	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	451					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1351C>A	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661737|2.661737	0.47572|0.47572	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000330817|ENST00000332276	D|.	0.81996|.	-1.56|.	5.31|5.31	4.29|4.29	0.51040|0.51040	.|.	0.082191|.	0.51477|.	D|.	0.000099|.	T|T	0.67998|0.67998	0.2953|0.2953	M|M	0.73962|0.73962	2.25|2.25	0.40555|0.40555	D|D	0.981158|0.981158	D|.	0.61080|.	0.989|.	P|.	0.56700|.	0.804|.	T|T	0.71909|0.71909	-0.4450|-0.4450	10|6	0.56958|0.87932	D|D	0.05|0	-14.8666|-14.8666	9.859|9.859	0.41103|0.41103	0.1586:0.0:0.8414:0.0|0.1586:0.0:0.8414:0.0	.|.	451|.	Q9BV10|.	ALG12_HUMAN|.	M|H	451|96	ENSP00000333813:L451M|.	ENSP00000333813:L451M|ENSP00000329560:P96H	L|P	-|-	1|2	2|0	ALG12|ALG12	48683606|48683606	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.157000|0.157000	0.22087|0.22087	3.612000|3.612000	0.54142|0.54142	1.235000|1.235000	0.43724|0.43724	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.637	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	38	1	0	0.115264	1	0.115264	3	38					T	50297602	G	T	50297602	3	4	438	1	0	0	0	0	1	0	0	0	514	991	35	4	119	4	ALG12	22	50297602	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	12212729	50297602	1006964	50	37246											
ERAS	3266	broad.mit.edu	37	chrX	48687675	48687675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacaaggctgtggtggtgGgcgccagtggcgtgggcaag	20	7	0	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48687675G>A	ENST00000338270.1	+	1	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	48					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642																																						ENST00000338270.1																			0				endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						c.(142-144)Ggc>Agc		ES cell expressed Ras							42	32	36					X																	48687675		2203	4300	6503	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687675G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.142G>A	X.37:g.48687675G>A	ENSP00000339136:p.Gly48Ser						p.G48S	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN			1	393	+			48						Missense_Mutation	SNP	ENST00000338270.1	37	c.142G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.504587	0.85176	.	.	ENSG00000187682	ENST00000338270	D	0.98028	-4.67	4.63	4.63	0.57726	Small GTP-binding protein domain (1);	0.000000	0.36778	N	0.002414	D	0.99086	0.9686	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99084	1.0838	10	0.87932	D	0	.	14.1211	0.65186	0.0:0.0:1.0:0.0	.	48	Q7Z444	RASE_HUMAN	S	48	ENSP00000339136:G48S	ENSP00000339136:G48S	G	+	1	0	ERAS	48572619	1.000000	0.71417	0.991000	0.47740	0.498000	0.33706	7.405000	0.80007	2.297000	0.77311	0.597000	0.82753	GGC		0.642	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		6	27	0	0	0	1	0	6	27					A	48687675	G	A	48687675	3	1	438	1	0	0	0	0	1	0	0	0	5205	1232	43	2	144	2	ERAS	23	48687675	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		48687675	106582885	51	37247											
PIM2	11040	broad.mit.edu	37	chrX	48772458	48772458	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatggctgccactacttggCcaaagaagcagcggcttggg	15	10	0	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772458C>G	ENST00000376509.4	-	4	623	c.434G>C	c.(433-435)gGc>gCc	p.G145A	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	145	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						CACTACTTGGCCAAAGAAGCA	0.572																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.(433-435)gGc>gCc		pim-2 oncogene							57	49	52					X																	48772458		2203	4300	6503	SO:0001583	missense	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772458C>G	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.434G>C	X.37:g.48772458C>G	ENSP00000365692:p.Gly145Ala						p.G145A	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			4	623	-			145			Protein kinase.		A8K4G6|Q99739	Missense_Mutation	SNP	ENST00000376509.4	37	c.434G>C	CCDS14312.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814550	0.02776	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.63913	-0.07;-0.07	5.88	1.93	0.25924	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.984864	0.08298	N	0.967429	T	0.40398	0.1115	N	0.04260	-0.245	0.23787	N	0.996842	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	10	0.21540	T	0.41	.	12.9182	0.58216	0.0873:0.7078:0.2049:0.0	.	145	Q9P1W9	PIM2_HUMAN	A	145;33	ENSP00000365692:G145A;ENSP00000410960:G33A	ENSP00000365692:G145A	G	-	2	0	PIM2	48657402	0.012000	0.17670	0.962000	0.40283	0.801000	0.45260	0.144000	0.16135	0.221000	0.20879	0.600000	0.82982	GGC		0.572	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			18	48	0	0	0	1	0	18	48					G	48772458	C	G	48772458	3	3	438	1	0	0	0	0	1	0	0	0	11928	739	26	4	513	4	PIM2	23	48772458	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	84783	48772458	106498102	52	37248											
PIM2	11040	broad.mit.edu	37	chrX	48772535	48772535	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagagatcctgggcgggcaaAggccgctcgaggaccagcat	15	11	0	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772535A>T	ENST00000376509.4	-	4	546	c.357T>A	c.(355-357)ccT>ccA	p.P119P	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	119	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						GGGCGGGCAAAGGCCGCTCGA	0.597																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.(355-357)ccT>ccA		pim-2 oncogene							43	36	39					X																	48772535		2203	4300	6503	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772535A>T	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.357T>A	X.37:g.48772535A>T							p.P119P	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			4	546	-			119			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.357T>A	CCDS14312.1																																																																																				0.597	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			12	30	0	0	0	1	0	12	30					T	48772535	A	T	48772535	2	4	438	1	0	0	0	0	0	0	0	1	11928	59	3	5		5	PIM2	23	48772535	Silent	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	77	48772535	106498025	53	37249											
NONO	4841	broad.mit.edu	37	chrX	70514290	70514290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgatcgaggaaggcccTcaggaaaaggcattgttgag	15	6	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:70514290T>C	ENST00000276079.8	+	5	767	c.562T>C	c.(562-564)Tca>Cca	p.S188P	NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000535149.1_Missense_Mutation_p.S99P|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S188P	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	188	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)					AGGAAGGCCCTCAGGAAAAGG	0.522			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(295-297)Tca>Cca		non-POU domain containing, octamer-binding							84	67	72					X																	70514290		2203	4298	6501	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514290T>C	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.562T>C	X.37:g.70514290T>C	ENSP00000276079:p.Ser188Pro					NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000373856.3_Missense_Mutation_p.S188P|NONO_ENST00000276079.8_Missense_Mutation_p.S188P	p.S99P	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			3	938	+	Renal(35;0.156)		188			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.295T>C	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.020869	0.75275	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000454976	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.058610	0.64402	D	0.000003	T	0.20333	0.0489	N	0.16233	0.39	0.52501	D	0.999955	D	0.57257	0.979	P	0.59825	0.864	T	0.02966	-1.1088	10	0.87932	D	0	-7.2131	9.2257	0.37405	0.1635:0.0:0.0:0.8365	.	188	Q15233	NONO_HUMAN	P	99;188;188;188;188	ENSP00000441364:S99P;ENSP00000276079:S188P;ENSP00000362963:S188P;ENSP00000362947:S188P;ENSP00000406673:S188P	ENSP00000276079:S188P	S	+	1	0	NONO	70431015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.913000	0.63341	1.816000	0.52996	0.430000	0.28490	TCA		0.522	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		17	41	0	0	0	1	0	17	41					C	70514290	T	C	70514290	3	2	438	1	0	0	0	0	1	0	0	0	10534	1551	54	3	572	3	NONO	23	70514290	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	21741755	70514290	84756270	54	37250											
CDX4	1046	broad.mit.edu	37	chrX	72667524	72667524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggacgcaggcgccgccaaGgccagttcccccagcaggag	14	16	0	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:72667524G>A	ENST00000373514.2	+	1	435	c.435G>A	c.(433-435)aaG>aaA	p.K145K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	145					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)					GCGCCGCCAAGGCCAGTTCCC	0.637																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(433-435)aaG>aaA		caudal type homeobox 4							22	21	21					X																	72667524		2170	4231	6401	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667524G>A	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.435G>A	X.37:g.72667524G>A							p.K145K	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	435	+	Renal(35;0.156)		145					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.435G>A	CCDS14424.1																																																																																				0.637	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		9	28	0	0	0	1	0	9	28					A	72667524	G	A	72667524	2	1	438	1	0	0	0	0	0	0	0	1	3184	991	35	2		2	CDX4	23	72667524	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	2153234	72667524	82603036	55	37251											
ATRX	546	broad.mit.edu	37	chrX	76909650	76909659	+	Frame_Shift_Del	DEL	AGCTCCGCTG	AGCTCCGCTG	-													ccttttctttttctgtttatAgctccgctgattttcttcca							TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:76909650_76909659delAGCTCCGCTG	ENST00000373344.5	-	14	4460_4469	c.4246_4255delCAGCGGAGCT	c.(4246-4257)cagcggagctatfs	p.QRSY1416fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					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.R1417L(2)|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						TTCTGTTTATAGCTCCGCTGATTTTCTTCC	0.314			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Missense(2)|Unknown(1)	p.R1417L(2)|p.?(1)	lung(2)|bone(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						c.(4246-4257)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909650_76909659delAGCTCCGCTG	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.4246_4255delCAGCGGAGCT	X.37:g.76909650_76909659delAGCTCCGCTG	ENSP00000362441:p.Gln1416fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs	p.QRSY1416fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4460_4469	-			1416					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4246_4255delCAGCGGAGCT	CCDS14434.1																																																																																				0.314	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	115						17	115	---	---	---	---	-	76909659	AGCTCCGCTG	-	76909650	7	5	438	1	0	1	0	1	0	0	0	0	1208	420	15	0	3311	0	ATRX	23	76909650	Frame_Shift_Del	DEL	AGCTCCGCTG	TCGA-S9-A6WQ-01A-12D-A34A-08	4242126	76909650	78360910	56	37252											
COX7B	1349	broad.mit.edu	37	chrX	77160727	77160727	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaacctgtcccctgttggcaGagttaccccaaaggaatgga	11	11	0	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:77160727G>C	ENST00000481445.1	+	3	328	c.212G>C	c.(211-213)aGa>aCa	p.R71T		NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	71					cellular metabolic process (GO:0044237)|central nervous system development (GO:0007417)|hydrogen ion transmembrane transport (GO:1902600)|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 (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)	2						CCTGTTGGCAGAGTTACCCCA	0.398																																						ENST00000481445.1																			0				endometrium(2)	2						c.(211-213)aGa>aCa		cytochrome c oxidase subunit VIIb							131	105	114					X																	77160727		2203	4296	6499	SO:0001583	missense	1349				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chrX:77160727G>C	Z14244	CCDS14437.1	Xq21.1	2011-07-04			ENSG00000131174	ENSG00000131174		"Mitochondrial respiratory chain complex / Complex IV"	2291	protein-coding gene	gene with protein product		300885				8382530	Standard	NM_001866		Approved		uc004ecu.1	P24311	OTTHUMG00000022718	ENST00000481445.1:c.212G>C	X.37:g.77160727G>C	ENSP00000417656:p.Arg71Thr						p.R71T	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN			3	328	+			71					B2R4M3|Q6ICR1	Missense_Mutation	SNP	ENST00000481445.1	37	c.212G>C	CCDS14437.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066098	0.76187	.	.	ENSG00000131174	ENST00000481445	T	0.53857	0.6	5.25	5.25	0.73442	Cytochrome C oxidase, subunit VIIB, domain (2);	0.066404	0.64402	D	0.000007	T	0.68979	0.3060	.	.	.	0.36192	D	0.85012	D	0.59767	0.986	P	0.62184	0.899	T	0.78687	-0.2107	9	0.87932	D	0	-11.803	13.2626	0.60113	0.0:0.0:1.0:0.0	.	71	P24311	COX7B_HUMAN	T	71	ENSP00000417656:R71T	ENSP00000417656:R71T	R	+	2	0	COX7B	77047383	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.402000	0.44521	2.192000	0.70111	0.523000	0.50628	AGA		0.398	COX7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058970.1	NM_001866		4	119	0	0	0	1	0	4	119					C	77160727	G	C	77160727	3	2	438	1	0	0	0	0	1	0	0	0	3782	942	33	4	222	4	COX7B	23	77160727	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	251077	77160727	78109833	57	37253											
PASD1	139135	broad.mit.edu	37	chrX	150790022	150790022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtgatagttctgcttacGaaaacgtgaaatttattgtg	10	4	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:150790022G>A	ENST00000370357.4	+	6	621	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	126						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)					TTCTGCTTACGAAAACGTGAA	0.303																																						ENST00000370357.4																			0				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						c.(376-378)Gaa>Aaa		PAS domain containing 1							156	126	136					X																	150790022		2203	4299	6502	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150790022G>A	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.376G>A	X.37:g.150790022G>A	ENSP00000359382:p.Glu126Lys						p.E126K	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			6	621	+	Acute lymphoblastic leukemia(192;6.56e-05)		126					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.376G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227486	0.22542	.	.	ENSG00000166049	ENST00000370357	T	0.70045	-0.45	5.25	4.38	0.52667	.	.	.	.	.	T	0.76564	0.4005	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.67725	0.953	T	0.65768	-0.6088	9	0.87932	D	0	-29.0814	8.8561	0.35229	0.106:0.0:0.894:0.0	.	126	Q8IV76	PASD1_HUMAN	K	126	ENSP00000359382:E126K	ENSP00000359382:E126K	E	+	1	0	PASD1	150540678	1.000000	0.71417	0.019000	0.16419	0.017000	0.09413	4.402000	0.59722	0.990000	0.38787	0.600000	0.82982	GAA		0.303	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		15	32	0	0	0	1	0	15	32					A	150790022	G	A	150790022	3	1	438	1	0	0	0	0	1	0	0	0	11471	1059	37	1	394	1	PASD1	23	150790022	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	73629295	150790022	4480538	58	37254											
C1orf158	93190	broad.mit.edu	37	chr1	12815698	12815698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccatttacagaaaagaaTacatccccttcccagaccac	3	14	0	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:12815698T>C	ENST00000288048.5	+	2	376	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	54										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAAAGAATACATCCCCTT	0.483																																						ENST00000288048.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10						c.(160-162)Tac>Cac		chromosome 1 open reading frame 158							114	106	109					1																	12815698		2203	4300	6503	SO:0001583	missense	93190							g.chr1:12815698T>C	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.160T>C	1.37:g.12815698T>C	ENSP00000288048:p.Tyr54His					C1orf158_ENST00000376210.3_Intron	p.Y54H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	376	+	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)	54					Q5VUY4	Missense_Mutation	SNP	ENST00000288048.5	37	c.160T>C	CCDS147.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630078	0.28978	.	.	ENSG00000157330	ENST00000288048	T	0.57107	0.42	4.98	4.98	0.66077	.	0.234953	0.35936	N	0.002885	T	0.68375	0.2994	M	0.72118	2.19	0.41274	D	0.986862	D;D	0.71674	0.998;0.997	D;P	0.69142	0.962;0.899	T	0.72663	-0.4225	10	0.87932	D	0	-19.6347	11.049	0.47876	0.0:0.0:0.0:1.0	.	54;54	B4DQE0;Q8N1D5	.;CA158_HUMAN	H	54	ENSP00000288048:Y54H	ENSP00000288048:Y54H	Y	+	1	0	C1orf158	12738285	0.326000	0.24669	0.007000	0.13788	0.005000	0.04900	3.555000	0.53727	1.856000	0.53863	0.459000	0.35465	TAC		0.483	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		24	21	0	0	0	1	0	24	21					C	12815698	T	C	12815698	3	2	439	1	0	0	0	0	1	0	0	0	2007	1406	49	3	166	3	C1orf158	1	12815698	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		12815698	236434923	1	37255											
HSPG2	3339	broad.mit.edu	37	chr1	22163414	22163414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcaacgctggccccaatGctcttggtctctagctgagg	10	13	3	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:22163414G>T	ENST00000374695.3	-	75	10315	c.10236C>A	c.(10234-10236)agC>agA	p.S3412R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3412	Ig-like C2-type 20.				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)	TGGCCCCAATGCTCTTGGTCT	0.662																																						ENST00000374695.3																			0				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						c.(10234-10236)agC>agA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						58	47	51					1																	22163414		2190	4279	6469	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22163414G>T	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.10236C>A	1.37:g.22163414G>T	ENSP00000363827:p.Ser3412Arg						p.S3412R	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	75	10315	-		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)	3412			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10236C>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216896	0.39201	.	.	ENSG00000142798	ENST00000374695	T	0.68331	-0.32	4.59	2.67	0.31697	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.302373	0.23896	N	0.043484	T	0.41465	0.1160	N	0.11892	0.195	0.25038	N	0.991222	P;P	0.42161	0.464;0.772	B;B	0.39771	0.219;0.309	T	0.23368	-1.0190	10	0.15952	T	0.53	.	6.7009	0.23225	0.1735:0.1484:0.6781:0.0	.	1352;3412	Q59EG0;P98160	.;PGBM_HUMAN	R	3412	ENSP00000363827:S3412R	ENSP00000363827:S3412R	S	-	3	2	HSPG2	22036001	0.878000	0.30173	0.999000	0.59377	0.917000	0.54804	0.092000	0.15066	1.159000	0.42565	0.655000	0.94253	AGC		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	2	1	0	1	1	1	2	2					T	22163414	G	T	22163414	3	4	439	1	0	0	0	0	1	0	0	0	7430	1310	46	4	3031	4	HSPG2	1	22163414	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	9347716	22163414	227087207	2	37256											
ROCK2	9475	broad.mit.edu	37	chr2	11427813	11427813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattatctatgttcttgtttTtcctcaaagcaggaaaatct	5	7	4	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:11427813T>C	ENST00000315872.6	-	2	639	c.191A>G	c.(190-192)aAa>aGa	p.K64R	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	64					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)		GTTCTTGTTTTTCCTCAAAGC	0.274																																						ENST00000315872.6																			0				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						c.(190-192)aAa>aGa		Rho-associated, coiled-coil containing protein kinase 2							35	33	33					2																	11427813		1796	4045	5841	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11427813T>C	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.191A>G	2.37:g.11427813T>C	ENSP00000317985:p.Lys64Arg					ROCK2_ENST00000462366.1_5'UTR	p.K64R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	2	639	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		64					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.191A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	5.019	0.189237	0.09547	.	.	ENSG00000134318	ENST00000315872	T	0.61980	0.06	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	N	0.21324	0.655	0.80722	D	1	B	0.16802	0.019	B	0.15484	0.013	T	0.34054	-0.9844	10	0.02654	T	1	.	13.0584	0.58994	0.0:0.0:0.0:1.0	.	64	O75116	ROCK2_HUMAN	R	64	ENSP00000317985:K64R	ENSP00000261535:K64R	K	-	2	0	ROCK2	11345264	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.037000	0.76531	1.734000	0.51633	0.482000	0.46254	AAA		0.274	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			16	32	0	0	0	1	0	16	32					C	11427813	T	C	11427813	3	2	439	1	0	0	0	0	1	0	0	0	13518	1841	64	3	4103	3	ROCK2	2	11427813	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		11427813	231771560	3	37257											
PREB	10113	broad.mit.edu	37	chr2	27356048	27356048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtattatcgtggttgaaGcacacaactttctgcagtgg	12	7	1	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:27356048G>A	ENST00000260643.2	-	3	736	c.483C>T	c.(481-483)tgC>tgT	p.C161C	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Silent_p.C161C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGTTGAAGCACACAACTT	0.542																																						ENST00000260643.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(481-483)tgC>tgT		prolactin regulatory element binding							263	272	269					2																	27356048		2203	4300	6503	SO:0001819	synonymous_variant	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27356048G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.483C>T	2.37:g.27356048G>A						PREB_ENST00000406567.3_Silent_p.C161C|PREB_ENST00000416802.1_5'UTR	p.C161C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN			3	736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	c.483C>T	CCDS1738.1																																																																																				0.542	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		6	220	0	0	0	1	0	6	220					A	27356048	G	A	27356048	2	1	439	1	0	0	0	0	0	0	0	1	12470	963	34	2		2	PREB	2	27356048	Silent	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	15928235	27356048	215843325	4	37258											
WDR12	55759	broad.mit.edu	37	chr2	203772675	203772675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagggaacatcatctaCggcatatctataaaaaggaa	9	6	3	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:203772675C>T	ENST00000261015.4	-	2	798	c.49G>A	c.(49-51)Gta>Ata	p.V17I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACATCATCTACGGCATATCTA	0.338																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(49-51)Gta>Ata		WD repeat domain 12							127	116	119					2																	203772675		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203772675C>T	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"WD repeat domain containing"	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.49G>A	2.37:g.203772675C>T	ENSP00000261015:p.Val17Ile					WDR12_ENST00000477723.1_5'UTR	p.V17I	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			2	798	-			17						Missense_Mutation	SNP	ENST00000261015.4	37	c.49G>A	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618650	0.28801	.	.	ENSG00000138442	ENST00000261015	T	0.58940	0.3	5.18	3.4	0.38934	NLE (1);	0.169788	0.51477	N	0.000098	T	0.48714	0.1515	L	0.45137	1.4	0.58432	D	0.999999	B;B	0.14012	0.009;0.009	B;B	0.19946	0.027;0.027	T	0.40156	-0.9578	10	0.40728	T	0.16	-8.6509	11.6237	0.51132	0.0:0.853:0.0:0.147	.	17;17	Q53T99;Q9GZL7	.;WDR12_HUMAN	I	17	ENSP00000261015:V17I	ENSP00000261015:V17I	V	-	1	0	WDR12	203480920	0.335000	0.24748	0.268000	0.24571	0.383000	0.30230	0.946000	0.29069	0.689000	0.31550	-0.918000	0.02743	GTA		0.338	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		7	42	0	0	0	1	0	7	42					T	203772675	C	T	203772675	3	4	439	1	0	0	0	0	1	0	0	0	17271	536	19	1	1270	1	WDR12	2	203772675	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	176416627	203772675	39426698	5	37259											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	88	0	0	0	1	0	20	88					T	209113112	C	T	209113112	3	4	439	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	5340437	209113112	34086261	6	37260											
SLMAP	7871	broad.mit.edu	37	chr3	57847745	57847745	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaggactcaggaagaaTtaagagaattagccaacaaa	9	5	1	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:57847745T>C	ENST00000428312.1	+	9	992	c.898T>C	c.(898-900)Tta>Cta	p.L300L	SLMAP_ENST00000383718.3_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000449503.2_Silent_p.L300L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	300					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)		TCAGGAAGAATTAAGAGAATT	0.313																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(898-900)Tta>Cta		sarcolemma associated protein							91	103	99					3																	57847745		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57847745T>C	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.898T>C	3.37:g.57847745T>C						SLMAP_ENST00000428312.1_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000295952.3_Silent_p.L300L	p.L300L			Q14BN4	SLMAP_HUMAN		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)	9	996	+			300					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.898T>C																																																																																					0.313	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		4	187	0	0	0	1	0	4	187					C	57847745	T	C	57847745	2	2	439	1	0	0	0	0	0	0	0	1	14749	1490	52	3		3	SLMAP	3	57847745	Silent	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		57847745	140174685	7	37261											
CCDC52	152185	broad.mit.edu	37	chr3	113172643	113172643	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcccatgtgagagactctCcatctctgagtgaagagacg	10	11	3	5			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:113172643C>T	ENST00000295872.4	-	14	2071	c.1812G>A	c.(1810-1812)tgG>tgA	p.W604*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	604					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)		p.W604C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAGACTCTCCATCTCTGAG	0.413																																						ENST00000295872.4																			2	Substitution - Missense(2)	p.W604C(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1810-1812)tgG>tgA		spindle and centriole associated protein 1							125	126	126					3																	113172643		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172643C>T	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.1812G>A	3.37:g.113172643C>T	ENSP00000295872:p.Trp604*						p.W604*	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2071	-			604					D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.1812G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.862505	0.98531	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.48	5.48	0.80851	.	0.374733	0.24396	N	0.038898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8946	14.8649	0.70406	0.0:1.0:0.0:0.0	.	.	.	.	X	604	.	ENSP00000295872:W604X	W	-	3	0	SPICE1	114655333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.046000	0.57376	2.569000	0.86673	0.557000	0.71058	TGG		0.413	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		8	105	0	0	0	1	0	8	105					T	113172643	C	T	113172643	4	4	439	1	0	0	0	0	0	1	0	0	2822	856	30	2	775	2	CCDC52	3	113172643	Nonsense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	55324898	113172643	84849787	8	37262											
QRFPR	84109	broad.mit.edu	37	chr4	122250653	122250653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaactttgctttcttcCgcatcattgtaattcctgaa	7	9	2	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr4:122250653C>T	ENST00000394427.2	-	6	1523	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	371					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						TGCTTTCTTCCGCATCATTGT	0.378																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1111-1113)cGg>cAg		pyroglutamylated RFamide peptide receptor							192	190	191					4																	122250653		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250653C>T	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.1112G>A	4.37:g.122250653C>T	ENSP00000377948:p.Arg371Gln					QRFPR_ENST00000334383.5_3'UTR	p.R371Q	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1523	-			371						Missense_Mutation	SNP	ENST00000394427.2	37	c.1112G>A	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	1.400	-0.578442	0.03854	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	5.0	-1.01	0.10169	.	0.634163	0.16362	N	0.217722	T	0.34774	0.0909	N	0.02539	-0.55	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.16188	-1.0411	10	0.25106	T	0.35	.	2.3119	0.04188	0.1146:0.2239:0.1177:0.5438	.	371	Q96P65	QRFPR_HUMAN	Q	371	ENSP00000377948:R371Q	ENSP00000377948:R371Q	R	-	2	0	QRFPR	122470103	0.949000	0.32298	0.157000	0.22605	0.088000	0.18126	0.537000	0.23144	0.018000	0.15052	-0.573000	0.04149	CGG		0.378	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		6	189	0	0	0	1	0	6	189					T	122250653	C	T	122250653	3	4	439	1	0	0	0	0	1	0	0	0	12878	652	23	1	187	1	QRFPR	4	122250653	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		122250653	68903623	9	37263											
CPNE5	57699	broad.mit.edu	37	chr6	36711479	36711479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcacctggacgatgtcgCgttcagccagcttcccccgg	11	16	2	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:36711479C>T	ENST00000244751.2	-	20	2174	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACGATGTCGCGTTCAGCCAG	0.642																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1549-1551)cGc>cAc		copine V							101	99	100					6																	36711479		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36711479C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1550G>A	6.37:g.36711479C>T	ENSP00000244751:p.Arg517His					CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	p.R517H	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			20	2174	-			517			VWFA.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1550G>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953976	0.92660	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.18657	2.76;2.2	5.28	5.28	0.74379	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	H	0.96916	3.905	0.80722	D	1	P	0.48230	0.907	B	0.44044	0.439	T	0.61202	-0.7110	10	0.87932	D	0	.	16.4092	0.83701	0.0:1.0:0.0:0.0	.	517	Q9HCH3	CPNE5_HUMAN	H	517;225	ENSP00000244751:R517H;ENSP00000376885:R225H	ENSP00000244751:R517H	R	-	2	0	CPNE5	36819457	0.966000	0.33281	0.623000	0.29173	0.913000	0.54294	7.424000	0.80242	2.488000	0.83962	0.462000	0.41574	CGC		0.642	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		10	107	0	0	0	1	0	10	107					T	36711479	C	T	36711479	3	4	439	1	0	0	0	0	1	0	0	0	3815	768	27	1	239	1	CPNE5	6	36711479	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		36711479	134403588	10	37264											
DCBLD1	285761	broad.mit.edu	37	chr6	117859903	117859903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagcccgacttcaggAccaaggcccatcatgggctt	11	14	2	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:117859903A>G	ENST00000338728.5	+	8	1001	c.881A>G	c.(880-882)gAc>gGc	p.D294G	DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	294	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CGACTTCAGGACCAAGGCCCA	0.527																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(880-882)gAc>gGc		discoidin, CUB and LCCL domain containing 1							56	54	55					6																	117859903		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117859903A>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.881A>G	6.37:g.117859903A>G	ENSP00000342422:p.Asp294Gly					DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G|GOPC_ENST00000467125.1_Intron	p.D294G			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	8	1001	+		all_cancers(87;0.171)	294			F5/8 type C.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.881A>G		.	.	.	.	.	.	.	.	.	.	A	11.27	1.590288	0.28357	.	.	ENSG00000164465	ENST00000296955;ENST00000338728	D;D	0.96745	-4.11;-4.11	4.17	4.17	0.49024	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.425726	0.23367	N	0.048948	D	0.84624	0.5513	N	0.03294	-0.36	0.80722	D	1	P;D	0.53312	0.606;0.959	B;P	0.50049	0.352;0.629	D	0.83608	0.0132	10	0.18276	T	0.48	-17.1176	4.7625	0.13115	0.6063:0.156:0.0:0.2377	.	294;294	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	G	294	ENSP00000296955:D294G;ENSP00000342422:D294G	ENSP00000296955:D294G	D	+	2	0	DCBLD1	117966596	0.998000	0.40836	0.993000	0.49108	0.821000	0.46438	1.207000	0.32333	1.754000	0.51921	0.379000	0.24179	GAC		0.527	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		15	44	0	0	0	1	0	15	44					G	117859903	A	G	117859903	3	3	439	1	0	0	0	0	1	0	0	0	4280	275	10	3	911	3	DCBLD1	6	117859903	Missense_Mutation	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	81148424	117859903	53255164	11	37265											
SCRN1	9805	broad.mit.edu	37	chr7	29994961	29994961	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttggaacttggtcgaTtgaaatgtaagtgcactgaa	12	6	0	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:29994961T>C	ENST00000426154.1	-	3	351	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000416113.2_5'Flank|SCRN1_ENST00000434476.2_Missense_Mutation_p.I79V|SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	59					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACTTGGTCGATTGAAATGTAA	0.473																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(175-177)Atc>Gtc		secernin 1							96	95	95					7																	29994961		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29994961T>C	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.175A>G	7.37:g.29994961T>C	ENSP00000409068:p.Ile59Val					SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V|SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V	p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			3	351	-			59					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.175A>G	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	T	9.257	1.042219	0.19748	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T	0.34072	3.1;3.1;3.1;3.05;2.13;1.42;1.38	5.7	0.519	0.17035	.	0.286922	0.34245	N	0.004124	T	0.26557	0.0649	L	0.41356	1.27	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.26864	0.047;0.074	T	0.06991	-1.0796	9	.	.	.	-6.5757	9.3402	0.38076	0.0:0.2821:0.0:0.7179	.	79;59	C9JPG0;Q12765	.;SCRN1_HUMAN	V	59;59;59;79;59;59;59	ENSP00000242059:I59V;ENSP00000409068:I59V;ENSP00000386872:I59V;ENSP00000388942:I79V;ENSP00000413184:I59V;ENSP00000406289:I59V;ENSP00000387052:I59V	.	I	-	1	0	SCRN1	29961486	1.000000	0.71417	0.985000	0.45067	0.901000	0.52897	1.249000	0.32839	-0.121000	0.11787	-0.380000	0.06706	ATC		0.473	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		6	84	0	0	0	1	0	6	84					C	29994961	T	C	29994961	3	2	439	1	0	0	0	0	1	0	0	0	13938	1493	52	3	1093	3	SCRN1	7	29994961	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		29994961	129143702	12	37266											
PILRB	29990	broad.mit.edu	37	chr7	99956381	99956381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaacacctctcagcctccAtgggtggctctgtggaaatc	9	13	2	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:99956381A>G	ENST00000452089.1	+	7	1192	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PILRB_ENST00000609309.1_Missense_Mutation_p.M45V|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_Missense_Mutation_p.M45V			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	45	Ig-like V-type.				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)					CTCAGCCTCCATGGGTGGCTC	0.552																																						ENST00000310771.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(133-135)Atg>Gtg		paired immunoglobin-like type 2 receptor beta							59	63	62					7																	99956381		2202	4292	6494	SO:0001583	missense	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99956381A>G	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.133A>G	7.37:g.99956381A>G	ENSP00000391748:p.Met45Val					PILRB_ENST00000444874.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000452089.1_Missense_Mutation_p.M45V|PILRB_ENST00000448382.1_Intron	p.M45V			Q9UKJ0	PILRB_HUMAN			16	2629	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		45			Ig-like V-type.		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	c.133A>G	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	A	5.191	0.220749	0.09863	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;2.12	2.48	-3.38	0.04883	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.841170	0.02823	N	0.125801	T	0.46964	0.1420	N	0.22421	0.69	0.09310	N	1	B	0.29162	0.235	B	0.32289	0.143	T	0.28902	-1.0029	9	.	.	.	.	7.8011	0.29174	0.3757:0.0:0.6243:0.0	.	45	Q9UKJ0	PILRB_HUMAN	V	45;45;45;45;45;45;45;45;150;45	ENSP00000311153:M45V;ENSP00000391748:M45V;ENSP00000411261:M45V;ENSP00000403757:M45V;ENSP00000404321:M45V;ENSP00000389856:M45V;ENSP00000410764:M45V;ENSP00000408425:M45V	.	M	+	1	0	PILRB	99794317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.454000	0.02381	-0.688000	0.05155	-1.415000	0.01116	ATG		0.552	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238		4	78	0	0	0	1	0	4	78					G	99956381	A	G	99956381	3	3	439	1	0	0	0	0	1	0	0	0	11926	217	8	3	139	3	PILRB	7	99956381	Missense_Mutation	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	69961420	99956381	59182282	13	37267											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	76	0	0	0	1	0	3	76					G	114269973	A	G	114269973	2	3	439	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	14313592	114269973	44868690	14	37268											
PUF60	22827	broad.mit.edu	37	chr8	144898893	144898893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagatgatgacgcggttcaCggccccgaacttgccacact	11	13	1	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:144898893C>T	ENST00000526683.1	-	12	2032	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	493	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V493M(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGGTTCACGGCCCCGAAC	0.517																																						ENST00000526683.1																			1	Substitution - Missense(1)	p.V493M(1)	kidney(1)	NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(1477-1479)Gtg>Atg		poly-U binding splicing factor 60KDa							250	269	263					8																	144898893		2132	4219	6351	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144898893C>T	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1477G>A	8.37:g.144898893C>T	ENSP00000434359:p.Val493Met					PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M	p.V493M	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	2032	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		493			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1477G>A	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522691	0.85600	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0	5.41	5.41	0.78517	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.975	T	0.71391	-0.4607	10	0.87932	D	0	.	18.1632	0.89716	0.0:1.0:0.0:0.0	.	476;493	Q9UHX1-2;Q9UHX1	.;PUF60_HUMAN	M	493;450;433;464;476;447	ENSP00000434359:V493M;ENSP00000402953:V450M;ENSP00000322016:V433M;ENSP00000395417:V464M;ENSP00000322036:V476M;ENSP00000431960:V447M	ENSP00000322016:V433M	V	-	1	0	PUF60	144970881	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	5.393000	0.66279	2.537000	0.85549	0.551000	0.68910	GTG		0.517	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		4	211	0	0	0	1	0	4	211					T	144898893	C	T	144898893	3	4	439	1	0	0	0	0	1	0	0	0	12824	536	19	1	206	1	PUF60	8	144898893	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		144898893	1465129	15	37269											
AGTPBP1	23287	broad.mit.edu	37	chr9	88201794	88201794	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgcaacagccccttagcAtggtaaattgtaggatgtaa	9	7	0	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:88201794A>G	ENST00000357081.3	-	22	3129	c.2985T>C	c.(2983-2985)caT>caC	p.H995H	AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	995					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCCCTTAGCATGGTAAATTG	0.393																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2983-2985)caT>caC		ATP/GTP binding protein 1							140	126	131					9																	88201794		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88201794A>G	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2985T>C	9.37:g.88201794A>G						AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000432218.1_Intron	p.H995H			Q9UPW5	CBPC1_HUMAN			22	3129	-			995					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.2985T>C																																																																																					0.393	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	136	0	0	0	1	0	4	136					G	88201794	A	G	88201794	2	3	439	1	0	0	0	0	0	0	0	1	400	214	8	3		3	AGTPBP1	9	88201794	Silent	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08		88201794	53011637	16	37270											
KIAA1958	158405	broad.mit.edu	37	chr9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcgccgaggcctggaccGcatcctgaagaatgcaggtg	13	11	0	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:115421658G>A	ENST00000337530.6	+	4	1756	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	487								p.R487H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCCTGGACCGCATCCTGAAG	0.557																																						ENST00000337530.6																			1	Substitution - Missense(1)	p.R487H(1)	large_intestine(1)	endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1459-1461)cGc>cAc		KIAA1958							50	47	48					9																	115421658		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115421658G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1460G>A	9.37:g.115421658G>A	ENSP00000336940:p.Arg487His					KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	p.R487H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1756	+			487					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1460G>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958192	0.73902	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.65417	0.2689	L	0.29908	0.895	0.46078	D	0.998851	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68176	-0.5478	8	0.87932	D	0	.	13.6923	0.62553	0.0763:0.0:0.9237:0.0	.	515;487	B7ZKW6;Q8N8K9	.;K1958_HUMAN	H	487;515	.	ENSP00000336940:R487H	R	+	2	0	KIAA1958	114461479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.928000	0.56506	2.599000	0.87857	0.655000	0.94253	CGC		0.557	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		3	54	0	0	0	1	0	3	54					A	115421658	G	A	115421658	3	1	439	1	0	0	0	0	1	0	0	0	8264	1087	38	1	1470	1	KIAA1958	9	115421658	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	27219864	115421658	25791773	17	37271											
LRRC43	254050	broad.mit.edu	37	chr12	122674761	122674761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgaggaccctccggcaCctgcgactcctggtgctgca	12	16	0	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:122674761C>T	ENST00000339777.4	+	5	775	c.747C>T	c.(745-747)caC>caT	p.H249H	LRRC43_ENST00000425921.1_Silent_p.H64H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	249										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCTCCGGCACCTGCGACTCC	0.652																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(745-747)caC>caT		leucine rich repeat containing 43							90	102	98					12																	122674761		2160	4258	6418	SO:0001819	synonymous_variant	254050							g.chr12:122674761C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.747C>T	12.37:g.122674761C>T						LRRC43_ENST00000425921.1_Silent_p.H64H	p.H249H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	775	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		249					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.747C>T	CCDS45001.1																																																																																				0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		10	83	0	0	0	1	0	10	83					T	122674761	C	T	122674761	2	4	439	1	0	0	0	0	0	0	0	1	9001	506	18	2		2	LRRC43	12	122674761	Silent	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		122674761	11177134	18	37272											
GPR132	29933	broad.mit.edu	37	chr14	105518118	105518118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcagaagaagatgtagGcggtcaccttgcaggccagc	14	9	1	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr14:105518118G>A	ENST00000329797.3	-	4	1267	c.356C>T	c.(355-357)gCc>gTc	p.A119V	GPR132_ENST00000392585.2_Missense_Mutation_p.A110V|GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAAGATGTAGGCGGTCACCTT	0.612																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(355-357)gCc>gTc		G protein-coupled receptor 132							180	160	167					14																	105518118		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518118G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.356C>T	14.37:g.105518118G>A	ENSP00000328818:p.Ala119Val					GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000392585.2_Missense_Mutation_p.A110V	p.A119V	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1267	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	119					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.356C>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802150	0.70682	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37235	1.21;1.21;1.21	4.83	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.130318	0.50627	D	0.000119	T	0.48169	0.1485	L	0.39467	1.215	0.32876	D	0.509881	D;D	0.71674	0.994;0.998	D;D	0.64595	0.927;0.927	T	0.58387	-0.7645	10	0.34782	T	0.22	.	17.7613	0.88465	0.0:0.6825:0.3175:0.0	.	110;119	B4E144;Q9UNW8	.;GP132_HUMAN	V	119;110;119	ENSP00000328818:A119V;ENSP00000376364:A110V;ENSP00000438094:A119V	ENSP00000328818:A119V	A	-	2	0	GPR132	104589163	1.000000	0.71417	0.527000	0.27925	0.784000	0.44337	3.044000	0.49830	0.024000	0.15214	0.462000	0.41574	GCC		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		27	163	0	0	0	1	0	27	163					A	105518118	G	A	105518118	3	1	439	1	0	0	0	0	1	0	0	0	6642	1203	42	2	790	2	GPR132	14	105518118	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		105518118	1831422	19	37273											
SPTBN5	51332	broad.mit.edu	37	chr15	42182318	42182318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtgggagatctggaaaCgcagaatgatgacccagatg	14	6	1	6	rs547989631		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:42182318C>T	ENST00000320955.6	-	4	697	c.470G>A	c.(469-471)cGt>cAt	p.R157H	RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	157	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		GATCTGGAAACGCAGAATGAT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19898	0.0		0.0	False		,,,				2504	0.001					ENST00000320955.6																			0				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						c.(469-471)cGt>cAt		spectrin, beta, non-erythrocytic 5							114	117	116					15																	42182318		2072	4208	6280	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42182318C>T	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.470G>A	15.37:g.42182318C>T	ENSP00000317790:p.Arg157His						p.R157H	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		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)	4	697	-		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)	157			Actin-binding.|CH 1.			Missense_Mutation	SNP	ENST00000320955.6	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.071930	0.93950	.	.	ENSG00000137877	ENST00000320955	D	0.95342	-3.68	4.89	4.89	0.63831	Calponin homology domain (5);	0.000000	0.64402	D	0.000012	D	0.94981	0.8376	N	0.21448	0.665	0.36025	D	0.838983	D	0.89917	1.0	D	0.97110	1.0	D	0.97959	1.0336	10	0.87932	D	0	.	17.6999	0.88291	0.0:1.0:0.0:0.0	.	157	Q9NRC6	SPTN5_HUMAN	H	157	ENSP00000317790:R157H	ENSP00000317790:R157H	R	-	2	0	SPTBN5	39969610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.246000	0.51414	2.250000	0.74265	0.655000	0.94253	CGT		0.592	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	6	0	0	0	1	0	4	6					T	42182318	C	T	42182318	3	4	439	1	0	0	0	0	1	0	0	0	15121	536	19	1	10814	1	SPTBN5	15	42182318	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		42182318	60349074	20	37274											
NR2F2	7026	broad.mit.edu	37	chr15	96877599	96877599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggtggccctgcttcGcctcacctggagcgagctgt	14	14	1	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:96877599G>A	ENST00000394166.3	+	2	2126	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H|NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	246	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCCTGCTTCGCCTCACCTGG	0.682																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(736-738)cGc>cAc		nuclear receptor subfamily 2, group F, member 2							106	96	99					15																	96877599		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877599G>A	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.737G>A	15.37:g.96877599G>A	ENSP00000377721:p.Arg246His					NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H	p.R246H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	2126	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		246			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.737G>A	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605694	0.96626	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.97089	0.53;0.53;-4.24;-4.24	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	L	0.55743	1.74	0.80722	D	1	D;P	0.76494	0.999;0.562	D;B	0.76575	0.988;0.219	D	0.99198	1.0872	10	0.87932	D	0	.	18.4813	0.90812	0.0:0.0:1.0:0.0	.	246;113	P24468;Q3KQR7	COT2_HUMAN;.	H	113;246;93;93	ENSP00000401674:R113H;ENSP00000377721:R246H;ENSP00000377726:R93H;ENSP00000389853:R93H	ENSP00000377721:R246H	R	+	2	0	NR2F2	94678603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	2.376000	0.81061	0.655000	0.94253	CGC		0.682	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			15	88	0	0	0	1	0	15	88					A	96877599	G	A	96877599	3	1	439	1	0	0	0	0	1	0	0	0	10628	1087	38	1	790	1	NR2F2	15	96877599	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	54695281	96877599	5653793	21	37275											
OTOA	146183	broad.mit.edu	37	chr16	21689897	21689897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttctgagccatggagtgtCgagttatacagtgccaaatt	10	7	1	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:21689897C>T	ENST00000286149.4	+	1	63	c.62C>T	c.(61-63)tCg>tTg	p.S21L	OTOA_ENST00000388958.3_Missense_Mutation_p.S21L			Q7RTW8	OTOAN_HUMAN	otoancorin	21					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATGGAGTGTCGAGTTATACA	0.428																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(61-63)tCg>tTg		otoancorin							115	101	105					16																	21689897		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21689897C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.62C>T	16.37:g.21689897C>T	ENSP00000286149:p.Ser21Leu					OTOA_ENST00000286149.4_Missense_Mutation_p.S21L	p.S21L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	1	63	+			21					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.62C>T		.	.	.	.	.	.	.	.	.	.	C	9.096	1.002855	0.19121	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.67345	-0.26;-0.25	5.77	2.74	0.32292	.	0.571701	0.17097	N	0.187140	T	0.45458	0.1343	N	0.19112	0.55	0.09310	N	0.999999	P	0.35982	0.531	B	0.28465	0.09	T	0.38972	-0.9636	10	0.72032	D	0.01	0.1178	8.3378	0.32225	0.0:0.7474:0.0:0.2526	.	21	E9PF51	.	L	21	ENSP00000373610:S21L;ENSP00000286149:S21L	ENSP00000286149:S21L	S	+	2	0	OTOA	21597398	0.000000	0.05858	0.021000	0.16686	0.003000	0.03518	-0.080000	0.11339	0.781000	0.33589	0.655000	0.94253	TCG		0.428	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			8	103	0	0	0	1	0	8	103					T	21689897	C	T	21689897	3	4	439	1	0	0	0	0	1	0	0	0	11302	893	31	1	64	1	OTOA	16	21689897	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		21689897	68664856	22	37276											
ANKFY1	51479	broad.mit.edu	37	chr17	4098228	4098228	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacatgccatttcctggcGcctgcagaccccagcgtcgc	9	16	0	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:4098228G>A	ENST00000341657.4	-	10	1408				ANKFY1_ENST00000570535.1_Intron|ANKFY1_ENST00000433651.1_Missense_Mutation_p.R473C|Y_RNA_ENST00000384660.1_RNA|ANKFY1_ENST00000574367.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1						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						ATTTCCTGGCGCCTGCAGACC	0.502																																						ENST00000433651.1																			0				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						c.(1417-1419)Cgc>Tgc		ankyrin repeat and FYVE domain containing 1							18	19	19					17																	4098228		1983	4153	6136	SO:0001627	intron_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4098228G>A	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.1372+44C>T	17.37:g.4098228G>A						ANKFY1_ENST00000341657.4_Intron|ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000570535.1_Intron	p.R473C			Q9P2R3	ANFY1_HUMAN			10	1454	-			0					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1417C>T		.	.	.	.	.	.	.	.	.	.	G	8.197	0.797295	0.16327	.	.	ENSG00000185722	ENST00000433651	T	0.50548	0.74	4.88	-2.85	0.05734	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	8	0.48119	T	0.1	.	2.7969	0.05403	0.1905:0.2504:0.4406:0.1185	.	473	Q9P2R3-3	.	C	473	ENSP00000416005:R473C	ENSP00000416005:R473C	R	-	1	0	ANKFY1	4044977	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.450000	0.06803	-0.859000	0.04105	-1.321000	0.01291	CGC		0.502	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		6	13	0	0	0	1	0	6	13					A	4098228	G	A	4098228	1	1	439	0	1	0	0	0	0	0	0	0	626	1087	38	1		1	ANKFY1	17	4098228	Intron	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		4098228	77096982	23	37277											
CDK12	51755	broad.mit.edu	37	chr17	37618565	37618566	+	Frame_Shift_Ins	INS	-	-	AC													tgatatcagctctgattccgINSacaccttctccgatgacatg							TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:37618565_37618566insAC	ENST00000447079.4	+	1	274_275	c.241_242insAC	c.(241-243)gacfs	p.D81fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.D81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	81					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						CTCTGATTCCGACACCTTCTCC	0.53			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(241-243)cacfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618565_37618566insAC	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.244_245dupAC	17.37:g.37618568_37618569dupAC	ENSP00000398880:p.Asp81fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.H81fs	p.H81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			1	274_275	+			81					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.241_242insAC	CCDS11337.1																																																																																				0.53	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		10	55						10	55	---	---	---	---	AC	37618566	-	AC	37618565	7	5	439	1	0	1	1	0	0	0	0	0	3128	1058	37	0	243	0	CDK12	17	37618565	Frame_Shift_Ins	INS	-	TCGA-S9-A7IQ-01A-21D-A34A-08	33520337	37618565	43576645	24	37278											
DSG1	1828	broad.mit.edu	37	chr18	28934983	28934983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagtctgagtatgcaccccGagttagccaatgcccacaat	9	12	1	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr18:28934983G>A	ENST00000257192.4	+	15	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	942					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)			TATGCACCCCGAGTTAGCCAA	0.488																																						ENST00000257192.4																			0				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						c.(2824-2826)Gag>Aag		desmoglein 1							234	227	229					18																	28934983		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934983G>A	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.2824G>A	18.37:g.28934983G>A	ENSP00000257192:p.Glu942Lys					RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K	p.E942K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3036	+			942					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2824G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776418	0.31411	.	.	ENSG00000134760	ENST00000257192	T	0.79940	-1.32	6.17	5.3	0.74995	.	0.433269	0.23906	N	0.043398	D	0.82549	0.5061	M	0.81802	2.56	0.46981	D	0.999279	D	0.54601	0.967	B	0.42361	0.385	D	0.85670	0.1294	10	0.72032	D	0.01	.	15.8705	0.79117	0.0646:0.0:0.9354:0.0	.	942	Q02413	DSG1_HUMAN	K	942	ENSP00000257192:E942K	ENSP00000257192:E942K	E	+	1	0	DSG1	27188981	1.000000	0.71417	0.087000	0.20705	0.649000	0.38597	3.910000	0.56371	1.631000	0.50456	0.655000	0.94253	GAG		0.488	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		16	236	0	0	0	1	0	16	236					A	28934983	G	A	28934983	3	1	439	1	0	0	0	0	1	0	0	0	4776	1059	37	1	2882	1	DSG1	18	28934983	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		28934983	49142265	25	37279											
FBN3	84467	broad.mit.edu	37	chr19	8160343	8160343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgttgaggcaatggcCaaatcggcacacctgcccca	11	13	0	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:8160343C>T	ENST00000600128.1	-	46	6115	c.5701G>A	c.(5701-5703)Ggc>Agc	p.G1901S	FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S|FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S			Q75N90	FBN3_HUMAN	fibrillin 3	1901	EGF-like 30; 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						AGGCAATGGCCAAATCGGCAC	0.542																																						ENST00000600128.1																			0				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						c.(5701-5703)Ggc>Agc		fibrillin 3							116	82	94					19																	8160343		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8160343C>T		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.5701G>A	19.37:g.8160343C>T	ENSP00000470498:p.Gly1901Ser					FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S|FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S	p.G1901S			Q75N90	FBN3_HUMAN			46	6115	-			1901			EGF-like 30; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5701G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001796	0.93227	.	.	ENSG00000142449	ENST00000270509	D	0.89050	-2.46	4.68	4.68	0.58851	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	0.93304	0.7866	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92895	0.6334	10	0.40728	T	0.16	.	17.6155	0.88066	0.0:1.0:0.0:0.0	.	1901	Q75N90	FBN3_HUMAN	S	1901	ENSP00000270509:G1901S	ENSP00000270509:G1901S	G	-	1	0	FBN3	8066343	1.000000	0.71417	0.985000	0.45067	0.760000	0.43138	7.255000	0.78338	2.142000	0.66516	0.655000	0.94253	GGC		0.542	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	36	0	0	0	1	0	10	36					T	8160343	C	T	8160343	3	4	439	1	0	0	0	0	1	0	0	0	5704	594	21	2	2804	2	FBN3	19	8160343	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		8160343	50968640	26	37280											
CKM	1158	broad.mit.edu	37	chr19	45810787	45810787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtgcttgctcaggtgcGccagcttcacatgcacgcct	13	13	2	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:45810787G>A	ENST00000221476.3	-	7	1073	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	300	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCTCAGGTGCGCCAGCTTCAC	0.637																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(898-900)gCg>gTg		creatine kinase, muscle	Creatine(DB00148)						83	73	76					19																	45810787		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810787G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.899C>T	19.37:g.45810787G>A	ENSP00000221476:p.Ala300Val						p.A300V	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	7	1073	-		Ovarian(192;0.0336)|all_neural(266;0.112)	300			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.899C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776457	0.70107	.	.	ENSG00000104879	ENST00000221476	T	0.22134	1.97	5.3	4.22	0.49857	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.228638	0.44688	D	0.000435	T	0.11537	0.0281	N	0.14661	0.345	0.43740	D	0.996238	B	0.34226	0.443	B	0.23150	0.044	T	0.09143	-1.0688	10	0.66056	D	0.02	-25.9749	12.1876	0.54247	0.0:0.0:0.788:0.212	.	300	P06732	KCRM_HUMAN	V	300	ENSP00000221476:A300V	ENSP00000221476:A300V	A	-	2	0	CKM	50502627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.890000	0.87313	1.075000	0.40932	0.561000	0.74099	GCG		0.637	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			9	19	0	0	0	1	0	9	19					A	45810787	G	A	45810787	3	1	439	1	0	0	0	0	1	0	0	0	3448	1087	38	1	254	1	CKM	19	45810787	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	37650444	45810787	13318196	27	37281											
KIAA0406	9675	broad.mit.edu	37	chr20	36640810	36640810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatatctcctctggatgCggttccaaggctgtgtggct	13	9	2	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr20:36640810C>T	ENST00000373448.2	-	3	1647	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TTI1_ENST00000449821.1_Missense_Mutation_p.R470H|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	470					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCTCTGGATGCGGTTCCAAGG	0.463																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1408-1410)cGc>cAc		TELO2 interacting protein 1							63	67	66					20																	36640810		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640810C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1409G>A	20.37:g.36640810C>T	ENSP00000362547:p.Arg470His					TTI1_ENST00000373447.3_Missense_Mutation_p.R470H|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H	p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1647	-			470					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1409G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	c	0.557	-0.847090	0.02651	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.68479	-0.33;-0.33;-0.33	5.08	-1.07	0.09968	Armadillo-type fold (1);	1.096590	0.06874	N	0.801308	T	0.50718	0.1632	N	0.25647	0.755	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.34378	-0.9831	10	0.40728	T	0.16	-25.4045	7.537	0.27717	0.0:0.5185:0.1562:0.3253	.	470	O43156	TTI1_HUMAN	H	470	ENSP00000362547:R470H;ENSP00000362546:R470H;ENSP00000407270:R470H	ENSP00000362546:R470H	R	-	2	0	TTI1	36074224	0.001000	0.12720	0.000000	0.03702	0.286000	0.27126	0.351000	0.20096	-0.395000	0.07715	-0.285000	0.09966	CGC		0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		4	74	0	0	0	1	0	4	74					T	36640810	C	T	36640810	3	4	439	1	0	0	0	0	1	0	0	0	8173	768	27	1	1888	1	KIAA0406	20	36640810	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		36640810	26384710	28	37282											
PDHA1	5160	broad.mit.edu	37	chrX	19377663	19377663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccagtttgccacggcCgatcctgagccacctttgga	11	15	0	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:19377663C>T	ENST00000422285.2	+	11	1170	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000379806.5_Silent_p.A393A|PDHA1_ENST00000379804.1_Silent_p.A74A|MAP3K15_ENST00000518578.1_5'Flank|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000545074.1_Silent_p.A362A			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	355					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TTGCCACGGCCGATCCTGAGC	0.468																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(1177-1179)gcC>gcT		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						111	94	100					X																	19377663		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19377663C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.1065C>T	X.37:g.19377663C>T						PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000545074.1_Silent_p.A362A|PDHA1_ENST00000379804.1_Silent_p.A74A|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000422285.2_Silent_p.A355A	p.A393A	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			12	1324	+	Hepatocellular(33;0.183)		355					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.1179C>T	CCDS14192.1																																																																																				0.468	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			4	113	0	0	0	1	0	4	113					T	19377663	C	T	19377663	2	4	439	1	0	0	0	0	0	0	0	1	11664	639	23	1		1	PDHA1	23	19377663	Silent	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		19377663	135892897	29	37283											
MACF1	23499	broad.mit.edu	37	chr1	39950322	39950322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaccaacaccaacttttcAttctagtcggacatcccttg	5	14	2	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:39950322A>C	ENST00000372915.3	+	96	21917	c.21830A>C	c.(21829-21831)cAt>cCt	p.H7277P	MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P|MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000564288.1_Missense_Mutation_p.H7444P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7277	C-terminal tail. {ECO:0000250}.|Ser-rich.				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)			CCAACTTTTCATTCTAGTCGG	0.438																																						ENST00000564288.1																			0				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						c.(22330-22332)cAt>cCt		microtubule-actin crosslinking factor 1							119	126	124					1																	39950322		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39950322A>C	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.21830A>C	1.37:g.39950322A>C	ENSP00000362006:p.His7277Pro					MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P|MACF1_ENST00000372915.3_Missense_Mutation_p.H7277P|MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P	p.H7444P			Q9UPN3	MACF1_HUMAN	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)		100	23108	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7277					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.22331A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.87|16.87	3.242052|3.242052	0.58995|0.58995	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218|ENST00000360115;ENST00000442046	T;T;T;T;T;T|.	0.62364|.	0.07;0.13;0.07;0.03;0.23;1.22|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.70552|0.70552	0.3237|0.3237	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;B;D;D;D;P|.	0.69078|.	0.962;0.344;0.99;0.995;0.997;0.932|.	P;B;P;D;D;B|.	0.74348|.	0.69;0.3;0.898;0.983;0.948;0.424|.	T|T	0.68796|0.68796	-0.5314|-0.5314	9|5	.|.	.|.	.|.	.|.	15.1292|15.1292	0.72507|0.72507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	7277;5319;4322;147;5827;256|.	Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7|.	MACF1_HUMAN;.;.;.;MACF4_HUMAN;.|.	P|L	5319;7277;5319;5319;5189;5827;233|432;257	ENSP00000439537:H5319P;ENSP00000362006:H7277P;ENSP00000354573:H5319P;ENSP00000313438:H5319P;ENSP00000444364:H5189P;ENSP00000289893:H5827P|.	.|.	H|I	+|+	2|1	0|0	MACF1|MACF1	39722909|39722909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.465000|6.465000	0.73538|0.73538	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	168	0	0	0	1	0	10	168					C	39950322	A	C	39950322	3	2	440	1	0	0	0	0	1	0	0	0	9144	217	8	5	22499	5	MACF1	1	39950322	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		39950322	209300299	1	37284											
IL12RB2	3595	broad.mit.edu	37	chr1	67792514	67792514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgagacacccacttatAcactgagtatactctacagt	7	11	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:67792514A>G	ENST00000262345.1	+	4	1101	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	154	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						ACCCACTTATACACTGAGTAT	0.408																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(460-462)tAc>tGc		interleukin 12 receptor, beta 2							81	76	78					1																	67792514		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67792514A>G	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.461A>G	1.37:g.67792514A>G	ENSP00000262345:p.Tyr154Cys					IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			4	1101	+			154			Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.461A>G	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.80|12.80	2.046356|2.046356	0.36085|0.36085	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000441640|ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.5|5.5	-1.33|-1.33	0.09172|0.09172	.|Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|1.291180	.|0.04455	.|N	.|0.373358	T|T	0.19685|0.19685	0.0473|0.0473	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.76494	.|0.991;0.999;0.997;0.993	.|P;P;P;P	.|0.61722	.|0.598;0.893;0.846;0.815	T|T	0.06023|0.06023	-1.0850|-1.0850	5|10	.|0.37606	.|T	.|0.19	-0.027|-0.027	1.1872|1.1872	0.01857|0.01857	0.4071:0.2907:0.1618:0.1403|0.4071:0.2907:0.1618:0.1403	.|.	.|154;154;154;154	.|B4DGA4;F5H7L6;Q99665-2;Q99665	.|.;.;.;I12R2_HUMAN	M|C	21|154	.|ENSP00000262345:Y154C;ENSP00000360039:Y154C;ENSP00000445276:Y154C;ENSP00000442443:Y154C	.|ENSP00000262345:Y154C	I|Y	+|+	3|2	3|0	IL12RB2|IL12RB2	67565102|67565102	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.706000|0.706000	0.40770|0.40770	0.013000|0.013000	0.13310|0.13310	-0.524000|-0.524000	0.06400|0.06400	-0.371000|-0.371000	0.07208|0.07208	ATA|TAC		0.408	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		8	45	0	0	0	1	0	8	45					G	67792514	A	G	67792514	3	3	440	1	0	0	0	0	1	0	0	0	7627	391	14	3	471	3	IL12RB2	1	67792514	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	27842192	67792514	181458107	2	37285											
ABCA4	24	broad.mit.edu	37	chr1	94471002	94471002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaacatttttcaccttttCgatttcttctgctggtacac	4	11	3	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:94471002C>T	ENST00000370225.3	-	44	6228	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2048	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6142-6144)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 4							108	106	107					1																	94471002		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94471002C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6142G>A	1.37:g.94471002C>T	ENSP00000359245:p.Glu2048Lys					ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000465352.1_5'UTR	p.E2048K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	44	6228	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2048			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6142G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348450	0.11126	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.93763	-3.28;-3.28;-3.28	5.63	1.68	0.24146	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.681206	0.15936	N	0.237426	T	0.71426	0.3338	N	0.20357	0.565	0.09310	N	0.999999	B;B	0.13594	0.008;0.003	B;B	0.10450	0.005;0.002	T	0.59783	-0.7389	10	0.05620	T	0.96	.	11.9419	0.52905	0.0:0.7001:0.0:0.2999	.	167;2048	B4DX12;P78363	.;ABCA4_HUMAN	K	840;2048;318;167	ENSP00000359245:E2048K;ENSP00000439707:E318K;ENSP00000443203:E167K	ENSP00000359245:E2048K	E	-	1	0	ABCA4	94243590	0.000000	0.05858	0.004000	0.12327	0.099000	0.18886	0.133000	0.15912	0.433000	0.26313	-0.136000	0.14681	GAA		0.448	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		31	69	0	0	0	1	0	31	69					T	94471002	C	T	94471002	3	4	440	1	0	0	0	0	1	0	0	0	34	893	31	1	707	1	ABCA4	1	94471002	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	26678488	94471002	154779619	3	37286											
MNDA	4332	broad.mit.edu	37	chr1	158815755	158815755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactttacaagcaagcaTctggaacaatggtgtatggg	11	7	2	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:158815755T>C	ENST00000368141.4	+	5	1210	c.949T>C	c.(949-951)Tct>Cct	p.S317P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	317	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)					CAAGCAAGCATCTGGAACAAT	0.318																																						ENST00000368141.4																			0				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						c.(949-951)Tct>Cct		myeloid cell nuclear differentiation antigen							71	75	74					1																	158815755		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815755T>C	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.949T>C	1.37:g.158815755T>C	ENSP00000357123:p.Ser317Pro						p.S317P	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	1210	+	all_hematologic(112;0.0378)		317			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.949T>C	CCDS1177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.81|12.81	2.050809|2.050809	0.36181|0.36181	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000438394|ENST00000368141	.|T	.|0.16073	.|2.37	4.28|4.28	-2.94|-2.94	0.05581|0.05581	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|0.504521	.|0.14974	.|N	.|0.287653	T|T	0.02418|0.02418	0.0074|0.0074	L|L	0.28344|0.28344	0.845|0.845	0.09310|0.09310	N|N	1|1	.|P	.|0.42357	.|0.777	.|B	.|0.37888	.|0.26	T|T	0.35847|0.35847	-0.9772|-0.9772	5|10	.|0.39692	.|T	.|0.17	-0.321|-0.321	0.8801|0.8801	0.01232|0.01232	0.1642:0.3003:0.1689:0.3665|0.1642:0.3003:0.1689:0.3665	.|.	.|317	.|P41218	.|MNDA_HUMAN	T|P	22|317	.|ENSP00000357123:S317P	.|ENSP00000357123:S317P	I|S	+|+	2|1	0|0	MNDA|MNDA	157082379|157082379	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.614000|0.614000	0.37383|0.37383	-2.624000|-2.624000	0.00876|0.00876	-0.295000|-0.295000	0.08960|0.08960	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.318	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		40	68	0	0	0	1	0	40	68					C	158815755	T	C	158815755	3	2	440	1	0	0	0	0	1	0	0	0	9676	1435	50	3	963	3	MNDA	1	158815755	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	64344753	158815755	90434866	4	37287											
SLC9A11	284525	broad.mit.edu	37	chr1	173526626	173526626	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaatgcatcaaaatagggctCactaacaaaatagtaagcaa	7	7	2	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:173526626C>G	ENST00000367714.3	-	10	1490	c.1068G>C	c.(1066-1068)gtG>gtC	p.V356V	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.V254V|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	356					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAATAGGGCTCACTAACAAAA	0.333																																						ENST00000367714.3																			0											c.(1066-1068)gtG>gtC		solute carrier family 9, member C2 (putative)							104	112	109					1																	173526626		2202	4300	6502	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526626C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1068G>C	1.37:g.173526626C>G						SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.V254V|RP3-436N22.3_ENST00000431459.1_RNA	p.V356V	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1490	-			356					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.1068G>C	CCDS1308.1																																																																																				0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		7	162	0	0	0	1	0	7	162					G	173526626	C	G	173526626	2	3	440	1	0	0	0	0	0	0	0	1	14711	813	29	4		4	SLC9A11	1	173526626	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	14710871	173526626	75723995	5	37288											
OR2T4	127074	broad.mit.edu	37	chr1	248525411	248525411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagggtgtgtctcttcctgTcatcaggctgctggttcctg	12	10	3	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:248525411T>C	ENST00000366475.1	+	1	529	c.529T>C	c.(529-531)Tca>Cca	p.S177P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	177						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)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TCTCTTCCTGTCATCAGGCTG	0.532																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(529-531)Tca>Cca		olfactory receptor, family 2, subfamily T, member 4							266	232	243					1																	248525411		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525411T>C	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.529T>C	1.37:g.248525411T>C	ENSP00000355431:p.Ser177Pro						p.S177P	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	529	+	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)		177					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.529T>C	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294943	0.05568	.	.	ENSG00000196944	ENST00000366475	T	0.38240	1.15	3.48	0.418	0.16429	GPCR, rhodopsin-like superfamily (1);	1.058640	0.07443	N	0.897735	T	0.27866	0.0686	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.36163	-0.9759	10	0.66056	D	0.02	.	2.6302	0.04941	0.3488:0.0:0.4402:0.2111	.	177	Q8NH00	OR2T4_HUMAN	P	177	ENSP00000355431:S177P	ENSP00000355431:S177P	S	+	1	0	OR2T4	246592034	0.197000	0.23362	0.009000	0.14445	0.004000	0.04260	0.693000	0.25497	0.026000	0.15269	-0.359000	0.07587	TCA		0.532	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		77	108	0	0	0	1	0	77	108					C	248525411	T	C	248525411	3	2	440	1	0	0	0	0	1	0	0	0	11027	1667	58	3	531	3	OR2T4	1	248525411	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	74998785	248525411	725210	6	37289											
ITGB6	3694	broad.mit.edu	37	chr2	161030526	161030526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattgcatcaaatccaccttCgggtgtgtcaatattagcag	8	9	2	0	rs140624114		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:161030526C>T	ENST00000283249.2	-	5	955	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	240	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCCACCTTCGGGTGTGTCA	0.348																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(718-720)Gaa>Aaa		integrin, beta 6		C	LYS/GLU	0,4406		0,0,2203	103	102	102		718	5.3	1	2	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ITGB6	NM_000888.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	240/789	161030526	1,13005	2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161030526C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.718G>A	2.37:g.161030526C>T	ENSP00000283249:p.Glu240Lys					ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000485635.1_5'UTR	p.E240K			P18564	ITB6_HUMAN			5	955	-			240			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.718G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384591	0.95967	0.0	1.16E-4	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.3	5.3	0.74995	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99201	1.0873	10	0.87932	D	0	.	19.3005	0.94143	0.0:1.0:0.0:0.0	.	198;240	E9PEE8;P18564	.;ITB6_HUMAN	K	240;198;240;240	ENSP00000283249:E240K;ENSP00000408024:E198K;ENSP00000386828:E240K;ENSP00000386367:E240K	ENSP00000283249:E240K	E	-	1	0	ITGB6	160738772	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	7.445000	0.80570	2.646000	0.89796	0.491000	0.48974	GAA		0.348	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		26	43	0	0	0	1	0	26	43					T	161030526	C	T	161030526	3	4	440	1	0	0	0	0	1	0	0	0	7899	893	31	1	1692	1	ITGB6	2	161030526	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		161030526	82168847	7	37290											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			39	61	0	0	0	1	0	39	61					T	209113112	C	T	209113112	3	4	440	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	48082586	209113112	34086261	8	37291											
ABCA12	26154	broad.mit.edu	37	chr2	215823032	215823032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtttgttacccagtagCatgtcacgccaatgcctgaa	9	10	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:215823032C>A	ENST00000272895.7	-	41	6305	c.6086G>T	c.(6085-6087)tGc>tTc	p.C2029F	ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F|AC072062.1_ENST00000607412.1_RNA|AC072062.1_ENST00000420134.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2029					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)		TACCCAGTAGCATGTCACGCC	0.418																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				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						c.(6085-6087)tGc>tTc		ATP-binding cassette, sub-family A (ABC1), member 12							227	199	209					2																	215823032		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215823032C>A	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.6086G>T	2.37:g.215823032C>A	ENSP00000272895:p.Cys2029Phe					ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F|AC072062.1_ENST00000607412.1_RNA	p.C2029F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	41	6305	-		Renal(323;0.127)	2029					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6086G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063313	0.20067	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82711	-1.64;-1.64	5.52	5.52	0.82312	.	0.078533	0.56097	D	0.000032	T	0.74489	0.3723	N	0.25144	0.715	0.80722	D	1	B;B	0.20261	0.043;0.021	B;B	0.20184	0.028;0.01	T	0.68561	-0.5376	10	0.35671	T	0.21	.	16.5023	0.84260	0.0:0.8015:0.1985:0.0	.	2029;1711	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	2029;1711	ENSP00000272895:C2029F;ENSP00000374312:C1711F	ENSP00000272895:C2029F	C	-	2	0	ABCA12	215531277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.317000	0.51968	2.765000	0.95021	0.650000	0.86243	TGC		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	106	1	0	8.12818e-05	1	8.23953e-05	5	106					A	215823032	C	A	215823032	3	1	440	1	0	0	0	0	1	0	0	0	30	710	25	4	1753	4	ABCA12	2	215823032	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	6709920	215823032	27376341	9	37292											
HJURP	55355	broad.mit.edu	37	chr2	234756099	234756099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcatcgacctcaccgcTttttgaatctaaaagtcaaa	7	11	3	1	rs375563604		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:234756099T>C	ENST00000411486.2	-	5	411	c.346A>G	c.(346-348)Agc>Ggc	p.S116G	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	116					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTCACCGCTTTTTGAATCT	0.458																																						ENST00000411486.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(346-348)Agc>Ggc		Holliday junction recognition protein							99	86	90					2																	234756099		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234756099T>C		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.346A>G	2.37:g.234756099T>C	ENSP00000414109:p.Ser116Gly					HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron	p.S116G	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	5	411	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	116					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.346A>G	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	T	8.400	0.841765	0.16963	.	.	ENSG00000123485	ENST00000411486;ENST00000454020	T;T	0.37058	2.9;1.22	3.13	0.768	0.18487	.	2.269430	0.01606	N	0.022318	T	0.32071	0.0817	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.12708	-1.0537	10	0.38643	T	0.18	0.0402	4.6326	0.12509	0.0:0.2908:0.0:0.7092	.	116	Q8NCD3	HJURP_HUMAN	G	116;75	ENSP00000414109:S116G;ENSP00000414051:S75G	ENSP00000414109:S116G	S	-	1	0	HJURP	234420838	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.233000	0.17911	0.158000	0.19367	0.528000	0.53228	AGC		0.458	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		32	43	0	0	0	1	0	32	43					C	234756099	T	C	234756099	3	2	440	1	0	0	0	0	1	0	0	0	7189	1609	56	3	1920	3	HJURP	2	234756099	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	18933067	234756099	8443274	10	37293											
SCN10A	6336	broad.mit.edu	37	chr3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggtgcagcacatagctccGataggccttttgaatgacag	12	10	0	2	rs370779258		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACATAGCTCCGATAGGCCTTT	0.488																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.R1863W(1)	large_intestine(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5587-5589)Cgg>Tgg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G	TRP/ARG	0,4406		0,0,2203	159	137	145		5587	2	1	3		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN10A	NM_006514.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1863/1957	38739124	1,13005	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739124G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5587C>T	3.37:g.38739124G>A	ENSP00000390600:p.Arg1863Trp						p.R1863W	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5586	-			1863			IQ.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5587C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835830	0.50951	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.97480	-4.4	5.09	1.97	0.26223	.	0.000000	0.64402	D	0.000001	D	0.97679	0.9239	M	0.62088	1.915	0.42936	D	0.994332	D	0.89917	1.0	D	0.91635	0.999	D	0.97791	1.0238	10	0.87932	D	0	.	13.7464	0.62879	0.0:0.0:0.4734:0.5266	.	1863	Q9Y5Y9	SCNAA_HUMAN	W	1863	ENSP00000390600:R1863W	ENSP00000390600:R1863W	R	-	1	2	SCN10A	38714128	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	1.142000	0.31540	0.678000	0.31325	-0.182000	0.12963	CGG		0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		30	41	0	0	0	1	0	30	41					A	38739124	G	A	38739124	3	1	440	1	0	0	0	0	1	0	0	0	13912	1057	37	1	287	1	SCN10A	3	38739124	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		38739124	159283306	11	37294											
SCN10A	6336	broad.mit.edu	37	chr3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcacgccagggtaatgaCgctaaaatccagccagttcc	8	13	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGGTAATGACGCTAAAATCC	0.458																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.V196I(1)	large_intestine(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(586-588)Gtc>Atc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						169	161	163					3																	38812783		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38812783C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.586G>A	3.37:g.38812783C>T	ENSP00000390600:p.Val196Ile						p.V196I	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	4	585	-			196					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.586G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513523	0.85389	.	.	ENSG00000185313	ENST00000449082	D	0.98567	-5.0	5.15	5.15	0.70609	Ion transport (1);	0.061365	0.64402	D	0.000004	D	0.98429	0.9477	L	0.48935	1.535	0.49051	D	0.999744	D	0.89917	1.0	D	0.83275	0.996	D	0.99879	1.1109	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	196	Q9Y5Y9	SCNAA_HUMAN	I	196	ENSP00000390600:V196I	ENSP00000390600:V196I	V	-	1	0	SCN10A	38787787	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.317000	0.79018	2.665000	0.90641	0.655000	0.94253	GTC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		4	92	0	0	0	1	0	4	92					T	38812783	C	T	38812783	3	4	440	1	0	0	0	0	1	0	0	0	13912	536	19	1	5380	1	SCN10A	3	38812783	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	73659	38812783	159209647	12	37295											
SI	6476	broad.mit.edu	37	chr3	164792423	164792423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggatttgtagtcacacgagTagtagctggagttgaagtag	14	4	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:164792423T>C	ENST00000264382.3	-	3	213	c.151A>G	c.(151-153)Act>Gct	p.T51A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	51	Ser/Thr-rich.				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)	GTCACACGAGTAGTAGCTGGA	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				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						c.(151-153)Act>Gct		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						84	87	86					3																	164792423		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164792423T>C	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.151A>G	3.37:g.164792423T>C	ENSP00000264382:p.Thr51Ala	HNSCC(35;0.089)					p.T51A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			3	213	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	51			Ser/Thr-rich.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.151A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	1.702	-0.501190	0.04261	.	.	ENSG00000090402	ENST00000264382	D	0.88741	-2.42	2.7	1.46	0.22682	.	3.960300	0.00357	N	0.000036	D	0.84410	0.5466	L	0.53249	1.67	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.62959	-0.6743	10	0.08599	T	0.76	.	4.8508	0.13537	0.2739:0.0:0.0:0.7261	.	51	P14410	SUIS_HUMAN	A	51	ENSP00000264382:T51A	ENSP00000264382:T51A	T	-	1	0	SI	166275117	0.062000	0.20869	0.001000	0.08648	0.002000	0.02628	2.090000	0.41682	0.410000	0.25675	0.477000	0.44152	ACT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		23	62	0	0	0	1	0	23	62					C	164792423	T	C	164792423	3	2	440	1	0	0	0	0	1	0	0	0	14297	1638	57	3	5516	3	SI	3	164792423	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	125979640	164792423	33230007	13	37296											
PDE6B	5158	broad.mit.edu	37	chr4	658001	658001	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggagacgacccggaaggAgatcgtcatgtgagcgcggg	17	10	1	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:658001A>T	ENST00000496514.1	+	17	2141	c.2120A>T	c.(2119-2121)gAg>gTg	p.E707V	PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.E707V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	707					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)	ACCCGGAAGGAGATCGTCATG	0.617																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2119-2121)gAg>gTg		phosphodiesterase 6B, cGMP-specific, rod, beta							68	73	71					4																	658001		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:658001A>T	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.2120A>T	4.37:g.658001A>T	ENSP00000420295:p.Glu707Val					PDE6B_ENST00000496514.1_Missense_Mutation_p.E707V|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V	p.E707V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			17	2163	+			707					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.2120A>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466951	0.84425	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163;ENST00000471824	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	3.79	3.79	0.43588	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.192837	0.46758	D	0.000267	D	0.87585	0.6214	M	0.74258	2.255	0.58432	D	0.999998	D;D	0.76494	0.996;0.999	D;D	0.72625	0.944;0.978	D	0.88394	0.3010	10	0.87932	D	0	.	10.7725	0.46332	1.0:0.0:0.0:0.0	.	707;707	P35913;P35913-2	PDE6B_HUMAN;.	V	707;707;428;67	ENSP00000255622:E707V;ENSP00000420295:E707V;ENSP00000406334:E428V;ENSP00000417852:E67V	ENSP00000255622:E707V	E	+	2	0	PDE6B	648001	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.629000	0.90983	1.473000	0.48159	0.397000	0.26171	GAG		0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		31	33	0	0	0	1	0	31	33					T	658001	A	T	658001	3	4	440	1	0	0	0	0	1	0	0	0	11646	304	11	5	2186	5	PDE6B	4	658001	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		658001	190496275	14	37297											
RBPJ	3516	broad.mit.edu	37	chr4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-													gttcacagcagtggggagccTtttttattcatctctgtgag							TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:26426086delT	ENST00000361572.6	+	6	852	c.658delT	c.(658-660)tttfs	p.F221fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCA	0.358																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(616-618)ttfs		recombination signal binding protein for immunoglobulin kappa J region							114	119	118					4																	26426086		2203	4300	6503	SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426086delT	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"suppressor of hairless homolog (Drosophila)"	147183	"recombining binding protein suppressor of hairless (Drosophila)"	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.658delT	4.37:g.26426086delT	ENSP00000354528:p.Phe221fs					RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs	p.F207fs			Q06330	SUH_HUMAN			6	792	+		Breast(46;0.0503)	221					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.616delT	CCDS3437.1																																																																																				0.358	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		7	2330						7	2330	---	---	---	---	-	26426086	T	-	26426086	7	5	440	1	0	1	0	1	0	0	0	0	13161	1609	56	0	743	0	RBPJ	4	26426086	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	25768085	26426086	164728190	15	37298											
PDGFRA	5156	broad.mit.edu	37	chr4	55131143	55131143	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtgtataagtcaggggAaacgattgtggtcacctgtg	13	7	2	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131143A>T	ENST00000257290.5	+	5	1017	c.686A>T	c.(685-687)gAa>gTa	p.E229V	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AAGTCAGGGGAAACGATTGTG	0.428			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(685-687)gAa>gTa		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173	166	168					4																	55131143		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131143A>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.686A>T	4.37:g.55131143A>T	ENSP00000257290:p.Glu229Val	TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	p.E229V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1017	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		229			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.686A>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417984	0.83449	.	.	ENSG00000134853	ENST00000257290	T	0.70045	-0.45	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32884	U	0.005529	D	0.82356	0.5019	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.85251	0.1044	10	0.87932	D	0	.	15.175	0.72903	1.0:0.0:0.0:0.0	.	229;229	P16234-3;P16234	.;PGFRA_HUMAN	V	229	ENSP00000257290:E229V	ENSP00000257290:E229V	E	+	2	0	PDGFRA	54825900	1.000000	0.71417	0.796000	0.32109	0.757000	0.42996	7.543000	0.82106	1.999000	0.58509	0.402000	0.26972	GAA		0.428	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		1046	792	0	0	0	1	0	1046	792					T	55131143	A	T	55131143	3	4	440	1	0	0	0	0	1	0	0	0	11661	246	9	5	700	5	PDGFRA	4	55131143	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	28705057	55131143	136023133	16	37299			1	45		5	5	7502	N	T_G_C_A	2.378107e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55131185	55131185	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttaacaatgaggtggTtgaccttcaatggacttacc	9	7	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131185T>G	ENST00000257290.5	+	5	1059	c.728T>G	c.(727-729)gTt>gGt	p.V243G	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	243	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATGAGGTGGTTGACCTTCAA	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(727-729)gTt>gGt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						152	143	146					4																	55131185		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131185T>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.728T>G	4.37:g.55131185T>G	ENSP00000257290:p.Val243Gly	TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	p.V243G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1059	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		243			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.728T>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349051	0.82132	.	.	ENSG00000134853	ENST00000257290	T	0.67865	-0.29	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29529	U	0.011890	T	0.81955	0.4932	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.963	D	0.84430	0.0576	10	0.72032	D	0.01	.	15.3461	0.74337	0.0:0.0:0.0:1.0	.	243;243	P16234-3;P16234	.;PGFRA_HUMAN	G	243	ENSP00000257290:V243G	ENSP00000257290:V243G	V	+	2	0	PDGFRA	54825942	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	6.492000	0.73654	2.037000	0.60232	0.459000	0.35465	GTT		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		8	1428	0	0	0	1	0	8	1428					G	55131185	T	G	55131185	3	3	440	1	0	0	0	0	1	0	0	0	11661	1725	60	5	742	5	PDGFRA	4	55131185	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	42	55131185	136023091	17	37300			1	45		5	5	7502	N	T_G_C_A	2.378107e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55131197	55131197	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtggttgaccttcaatGgacttaccctggagaagtgg	14	7	1	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131197G>C	ENST00000257290.5	+	5	1071	c.740G>C	c.(739-741)tGg>tCg	p.W247S	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	247	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GACCTTCAATGGACTTACCCT	0.478			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(739-741)tGg>tCg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						138	130	132					4																	55131197		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131197G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.740G>C	4.37:g.55131197G>C	ENSP00000257290:p.Trp247Ser	TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	p.W247S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1071	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		247			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.740G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557196	0.65425	.	.	ENSG00000134853	ENST00000257290	D	0.96300	-3.97	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30538	U	0.009404	D	0.98239	0.9417	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	19.0765	0.93165	0.0:0.0:1.0:0.0	.	247;247	P16234-3;P16234	.;PGFRA_HUMAN	S	247	ENSP00000257290:W247S	ENSP00000257290:W247S	W	+	2	0	PDGFRA	54825954	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	7.968000	0.87980	2.518000	0.84900	0.561000	0.74099	TGG		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		27	1263	0	0	0	1	0	27	1263					C	55131197	G	C	55131197	3	2	440	1	0	0	0	0	1	0	0	0	11661	1357	47	4	754	4	PDGFRA	4	55131197	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	12	55131197	136023079	18	37301			1	45		5	5	7502	N	T_G_C_A	2.378107e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55136847	55136847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaaggaagaagacagtgGccattatactattgtagctc	10	7	0	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55136847G>A	ENST00000257290.5	+	8	1500	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAAGACAGTGGCCATTATACT	0.348			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1168-1170)gGc>gAc		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						150	154	153					4																	55136847		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136847G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1169G>A	4.37:g.55136847G>A	ENSP00000257290:p.Gly390Asp	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.G390D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1500	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		390			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1169G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.565617	0.86439	.	.	ENSG00000134853	ENST00000257290	T	0.80738	-1.41	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.32533	U	0.005976	D	0.91747	0.7390	M	0.90082	3.085	0.80722	D	1	P;D	0.58970	0.939;0.984	P;D	0.66084	0.904;0.941	D	0.92572	0.6067	10	0.87932	D	0	.	20.1407	0.98058	0.0:0.0:1.0:0.0	.	390;390	P16234-3;P16234	.;PGFRA_HUMAN	D	390	ENSP00000257290:G390D	ENSP00000257290:G390D	G	+	2	0	PDGFRA	54831604	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	8.548000	0.90669	2.763000	0.94921	0.651000	0.88453	GGC		0.348	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		138	1007	0	0	0	1	0	138	1007					A	55136847	G	A	55136847	3	1	440	1	0	0	0	0	1	0	0	0	11661	1203	42	2	1195	2	PDGFRA	4	55136847	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	5650	55136847	136017429	19	37302			1	45		5	5	7502	N	T_G_C_A	2.378107e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55138644	55138644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcacagctgaaggcacgCcgcttcctgatattgagtgg	14	10	0	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55138644C>T	ENST00000257290.5	+	9	1652	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	441	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAAGGCACGCCGCTTCCTGA	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1321-1323)Ccg>Tcg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						156	143	148					4																	55138644		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138644C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1321C>T	4.37:g.55138644C>T	ENSP00000257290:p.Pro441Ser	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.P441S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1652	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		441			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1321C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717462	0.68844	.	.	ENSG00000134853	ENST00000257290	D	0.92647	-3.08	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.000000	0.31936	U	0.006824	D	0.96516	0.8863	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96033	0.9018	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	441;441	P16234-3;P16234	.;PGFRA_HUMAN	S	441	ENSP00000257290:P441S	ENSP00000257290:P441S	P	+	1	0	PDGFRA	54833401	1.000000	0.71417	0.951000	0.38953	0.005000	0.04900	6.423000	0.73361	2.941000	0.99782	0.655000	0.94253	CCG		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		10	1164	0	0	0	1	0	10	1164					T	55138644	C	T	55138644	3	4	440	1	0	0	0	0	1	0	0	0	11661	739	26	2	1351	2	PDGFRA	4	55138644	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	1797	55138644	136015632	20	37303			1	45		5	5	7502	N	T_G_C_A	2.378107e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-													aagttgcccgaggaatggagTttttggcttcaaaaaatgta							TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		1	Substitution - Missense(1)	p.F808L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2422-2424)ttfs		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						71	69	70					4																	55151636		2203	4300	6503	SO:0001589	frameshift_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151636delT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2422delT	4.37:g.55151636delT	ENSP00000257290:p.Phe808fs	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	p.F808fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2753	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		808			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Frame_Shift_Del	DEL	ENST00000257290.5	37	c.2422delT	CCDS3495.1																																																																																				0.418	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		8	1709						8	1709	---	---	---	---	-	55151636	T	-	55151636	7	5	440	1	0	1	0	1	0	0	0	0	11661	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	12992	55151636	136002640	21	37304											
TLL1	7092	broad.mit.edu	37	chr4	166795174	166795174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgattacacttttgatgggAacgaagaggataaaacagag	11	4	0	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:166795174A>G	ENST00000061240.2	+	1	765	c.118A>G	c.(118-120)Aac>Gac	p.N40D	TLL1_ENST00000513213.1_Missense_Mutation_p.N40D|TLL1_ENST00000507499.1_Missense_Mutation_p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	40					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTGATGGGAACGAAGAGGA	0.572																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(118-120)Aac>Gac		tolloid-like 1							192	200	197					4																	166795174		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166795174A>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.118A>G	4.37:g.166795174A>G	ENSP00000061240:p.Asn40Asp					TLL1_ENST00000513213.1_Missense_Mutation_p.N40D|TLL1_ENST00000507499.1_Missense_Mutation_p.N40D	p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	1	765	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	40					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.118A>G	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	1.019	-0.685376	0.03328	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.57595	0.52;0.45;0.39	4.29	-5.89	0.02282	.	0.463064	0.19333	U	0.116850	T	0.22589	0.0545	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.09377	0.004;0.004	T	0.18871	-1.0323	10	0.13853	T	0.58	.	2.6262	0.04930	0.435:0.1261:0.3278:0.1111	.	40;40	E9PD25;O43897	.;TLL1_HUMAN	D	40	ENSP00000061240:N40D;ENSP00000426082:N40D;ENSP00000422937:N40D	ENSP00000061240:N40D	N	+	1	0	TLL1	167014624	0.005000	0.15991	0.003000	0.11579	0.002000	0.02628	0.679000	0.25291	-0.580000	0.05944	-0.464000	0.05259	AAC		0.572	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			96	50	0	0	0	1	0	96	50					G	166795174	A	G	166795174	3	3	440	1	0	0	0	0	1	0	0	0	15942	246	9	3	120	3	TLL1	4	166795174	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	111643538	166795174	24359102	22	37305											
FAT1	2195	broad.mit.edu	37	chr4	187540255	187540255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagttccacttcatattcGttctgaaggaaagcaggact	9	9	2	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23. {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						CTTCATATTCGTTCTGAAGGA	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(7483-7485)aaC>aaT		FAT atypical cadherin 1							241	228	232					4																	187540255		1903	4119	6022	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540255G>A	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.7485C>T	4.37:g.187540255G>A		HNSCC(5;0.00058)					p.N2495N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7694	-			2495			Cadherin 23.			Silent	SNP	ENST00000441802.2	37	c.7485C>T	CCDS47177.1																																																																																				0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		116	39	0	0	0	1	0	116	39					A	187540255	G	A	187540255	2	1	440	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAT1	4	187540255	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	20745081	187540255	3614021	23	37306											
MYO10	4651	broad.mit.edu	37	chr5	16684040	16684040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcagccccacatccaagGtgccctggaaaagaacaaaa	7	13	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:16684040G>A	ENST00000513610.1	-	30	4449	c.3995C>T	c.(3994-3996)aCc>aTc	p.T1332I	MYO10_ENST00000274203.9_Missense_Mutation_p.T689I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000515803.1_Missense_Mutation_p.T671I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1332					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACATCCAAGGTGCCCTGGAA	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3994-3996)aCc>aTc		myosin X							83	83	83					5																	16684040		2045	4186	6231	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16684040G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3995C>T	5.37:g.16684040G>A	ENSP00000421280:p.Thr1332Ile					MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000515803.1_Missense_Mutation_p.T671I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000274203.9_Missense_Mutation_p.T689I	p.T1332I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			30	4449	-			1332					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3995C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642989	0.87859	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.4	5.4	0.78164	Pleckstrin homology-type (1);	.	.	.	.	T	0.80325	0.4602	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.984;0.995;0.998	T	0.81699	-0.0814	9	0.72032	D	0.01	.	19.5496	0.95312	0.0:0.0:1.0:0.0	.	211;972;1332	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1332;671;689;671;689	ENSP00000421280:T1332I;ENSP00000425051:T671I;ENSP00000274203:T689I;ENSP00000421170:T671I;ENSP00000391106:T689I	ENSP00000274203:T689I	T	-	2	0	MYO10	16737040	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	9.813000	0.99286	2.688000	0.91661	0.655000	0.94253	ACC		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	13	0	0	0	1	0	11	13					A	16684040	G	A	16684040	3	1	440	1	0	0	0	0	1	0	0	0	10062	1261	44	2	2229	2	MYO10	5	16684040	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		16684040	164231220	24	37307											
DUSP1	1843	broad.mit.edu	37	chr5	172195811	172195811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgaaggtagctcagcGcactgttcgtggagtggaca	15	9	2	1	rs150141714	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:172195811G>A	ENST00000239223.3	-	4	1300	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	353	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GTAGCTCAGCGCACTGTTCGT	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.0					ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1057-1059)gCg>gTg		dual specificity phosphatase 1		G	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	101	96	98		1058	5.4	1	5	dbSNP_134	98	0,8600		0,0,4300	yes	missense	DUSP1	NM_004417.3	64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	353/368	172195811	6,13000	2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195811G>A	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1058C>T	5.37:g.172195811G>A	ENSP00000239223:p.Ala353Val					RP11-779O18.3_ENST00000523005.1_RNA	p.A353V	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1300	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	353			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.1058C>T	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370790	0.42003	0.001362	0.0	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02236	4.38	5.36	5.36	0.76844	.	0.183620	0.47455	D	0.000231	T	0.01061	0.0035	N	0.00347	-1.61	0.41657	D	0.989163	B;B	0.23650	0.003;0.089	B;B	0.12156	0.002;0.007	T	0.68269	-0.5453	10	0.44086	T	0.13	.	19.4492	0.94860	0.0:0.0:1.0:0.0	.	353;310	P28562;B4DNT2	DUS1_HUMAN;.	V	353;326;288	ENSP00000239223:A353V	ENSP00000239223:A353V	A	-	2	0	DUSP1	172128417	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	6.126000	0.71635	2.669000	0.90835	0.655000	0.94253	GCG		0.617	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		33	37	0	0	0	1	0	33	37					A	172195811	G	A	172195811	3	1	440	1	0	0	0	0	1	0	0	0	4809	1087	38	1	49	1	DUSP1	5	172195811	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	155511771	172195811	8719449	25	37308											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324886	86324886	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacttgaaaatcttcataaCcatagtatggatcttcatat	4	8	4	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:86324886C>G	ENST00000369622.3	-	11	1960	c.1460G>C	c.(1459-1461)gGt>gCt	p.G487A	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.G487A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	487	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				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)		ATCTTCATAACCATAGTATGG	0.438																																						ENST00000355238.6																			0				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						c.(1459-1461)gGt>gCt		synaptotagmin binding, cytoplasmic RNA interacting protein							48	44	45					6																	86324886		2203	4298	6501	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324886C>G	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.1460G>C	6.37:g.86324886C>G	ENSP00000358635:p.Gly487Ala					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G487A|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L	p.G487A	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1666	-		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)	487			3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1460G>C	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372435	0.24857	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.32515	1.47;1.45	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.74881	2.28	0.80722	D	1	B;B;B;B;B;B;B	0.34399	0.323;0.452;0.139;0.218;0.452;0.452;0.323	B;B;B;B;B;B;B	0.35813	0.066;0.139;0.066;0.211;0.139;0.139;0.066	T	0.07271	-1.0781	10	0.33940	T	0.23	.	19.177	0.93605	0.0:1.0:0.0:0.0	.	487;452;389;335;452;487;487	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	A	487	ENSP00000347380:G487A;ENSP00000358635:G487A	ENSP00000347380:G487A	G	-	2	0	SYNCRIP	86381605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.051000	0.71072	2.528000	0.85240	0.563000	0.77884	GGT		0.438	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		15	29	0	0	0	1	0	15	29					G	86324886	C	G	86324886	3	3	440	1	0	0	0	0	1	0	0	0	15441	507	18	4	461	4	SYNCRIP	6	86324886	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		86324886	84790181	26	37309											
EPHA7	2045	broad.mit.edu	37	chr6	93964444	93964444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattccatagctccatacaTcactggctgatgtgaatttc	6	11	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:93964444T>C	ENST00000369303.4	-	14	2637	c.2453A>G	c.(2452-2454)gAt>gGt	p.D818G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	818	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTCCATACATCACTGGCTGA	0.383																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2452-2454)gAt>gGt		EPH receptor A7							135	117	123					6																	93964444		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93964444T>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2453A>G	6.37:g.93964444T>C	ENSP00000358309:p.Asp818Gly						p.D818G	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2637	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	818			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2453A>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874037	0.91664	.	.	ENSG00000135333	ENST00000369303	D	0.88818	-2.43	5.51	5.51	0.81932	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	0.96876	0.8980	H	0.99249	4.485	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	D	0.98725	1.0710	10	0.87932	D	0	.	15.6344	0.76941	0.0:0.0:0.0:1.0	.	814;813;818	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	G	818	ENSP00000358309:D818G	ENSP00000358309:D818G	D	-	2	0	EPHA7	94021165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.031000	0.88826	2.105000	0.64084	0.533000	0.62120	GAT		0.383	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			22	50	0	0	0	1	0	22	50					C	93964444	T	C	93964444	3	2	440	1	0	0	0	0	1	0	0	0	5172	1435	50	3	559	3	EPHA7	6	93964444	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	7639558	93964444	77150623	27	37310											
TSGA13	114960	broad.mit.edu	37	chr7	130364078	130364078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcagggaggtgggttgTtggtcataatcagtaacgtc	15	5	2	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:130364078T>C	ENST00000456951.1	-	6	1153	c.302A>G	c.(301-303)aAc>aGc	p.N101S	TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S			Q96PP4	TSG13_HUMAN	testis specific, 13	101										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGTGGGTTGTTGGTCATAAT	0.438																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(301-303)aAc>aGc		testis specific, 13							325	275	292					7																	130364078		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130364078T>C	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.302A>G	7.37:g.130364078T>C	ENSP00000406047:p.Asn101Ser					TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S	p.N101S			Q96PP4	TSG13_HUMAN			6	1153	-	Melanoma(18;0.0435)		101					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.302A>G	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516597	0.64634	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	4.96	4.96	0.65561	.	0.000000	0.52532	D	0.000065	T	0.56920	0.2018	L	0.36672	1.1	0.32547	N	0.532861	D	0.89917	1.0	D	0.83275	0.996	T	0.67051	-0.5768	9	0.87932	D	0	-21.5249	10.9557	0.47356	0.0:0.0:0.0:1.0	.	101	Q96PP4	TSG13_HUMAN	S	101	.	ENSP00000348996:N101S	N	-	2	0	TSGA13	130014618	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.667000	0.54547	2.084000	0.62774	0.460000	0.39030	AAC		0.438	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		42	58	0	0	0	1	0	42	58					C	130364078	T	C	130364078	3	2	440	1	0	0	0	0	1	0	0	0	16616	1725	60	3	541	3	TSGA13	7	130364078	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08		130364078	28774585	28	37311											
ADAM2	2515	broad.mit.edu	37	chr8	39678649	39678649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaactgaagactccagggGttctattccataactaacat	7	11	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:39678649G>T	ENST00000265708.4	-	6	488	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	129					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACTCCAGGGGTTCTATTCCA	0.308																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(385-387)Ccc>Acc		ADAM metallopeptidase domain 2							53	53	53					8																	39678649		2203	4297	6500	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39678649G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.385C>A	8.37:g.39678649G>T	ENSP00000265708:p.Pro129Thr					ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T	p.P129T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	6	488	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	129					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.385C>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018162	0.75275	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.47	5.47	0.80525	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.61451	0.2348	H	0.96015	3.755	0.44685	D	0.997678	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	T	0.74682	-0.3583	8	.	.	.	.	16.8353	0.85955	0.0:0.0:1.0:0.0	.	129;129;129;129	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	T	129	ENSP00000343854:P129T;ENSP00000369182:P129T;ENSP00000265708:P129T;ENSP00000429352:P129T	.	P	-	1	0	ADAM2	39797806	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.728000	0.62000	2.568000	0.86640	0.655000	0.94253	CCC		0.308	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		24	61	1	0	1.64293e-13	1	1.76199e-13	24	61					T	39678649	G	T	39678649	3	4	440	1	0	0	0	0	1	0	0	0	241	1261	44	4	1882	4	ADAM2	8	39678649	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		39678649	106685373	29	37312											
SLC45A4	57210	broad.mit.edu	37	chr8	142228943	142228943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcgccgggctcctcagCgctgcgctcctgctgcgggc	16	17	1	0	rs139911158	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:142228943C>T	ENST00000024061.3	-	4	950	c.643G>A	c.(643-645)Gct>Act	p.A215T	SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A215T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCTCAGCGCTGCGCTCC	0.672																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(643-645)Gct>Act		solute carrier family 45, member 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	59	64	62		643	-7.1	0	8	dbSNP_134	62	4,8596	3.7+/-12.6	0,4,4296	no	missense	SLC45A4	NM_001080431.1	58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	215/799	142228943	5,13001	2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228943C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.643G>A	8.37:g.142228943C>T	ENSP00000024061:p.Ala215Thr					SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T|SLC45A4_ENST00000024061.3_Missense_Mutation_p.A215T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T	p.A215T			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	946	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		266					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.643G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	1.596	-0.527688	0.04141	2.27E-4	4.65E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;0.97	4.8	-7.13	0.01532	.	1.967430	0.03037	N	0.152895	T	0.54615	0.1869	N	0.08118	0	0.09310	N	1	B;B;B	0.21753	0.06;0.003;0.003	B;B;B	0.15052	0.012;0.002;0.002	T	0.51474	-0.8701	10	0.13108	T	0.6	0.0228	3.882	0.09082	0.0869:0.4013:0.3023:0.2095	.	266;215;215	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	215;266;208;215;73	ENSP00000429059:A215T;ENSP00000428137:A266T;ENSP00000400799:A208T;ENSP00000024061:A215T;ENSP00000429033:A73T	ENSP00000024061:A215T	A	-	1	0	SLC45A4	142298125	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.554000	0.06006	-1.876000	0.01131	-1.723000	0.00705	GCT		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		55	61	0	0	0	1	0	55	61					T	142228943	C	T	142228943	3	4	440	1	0	0	0	0	1	0	0	0	14643	768	27	1	1773	1	SLC45A4	8	142228943	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	102550294	142228943	4135079	30	37313											
SPATC1	375686	broad.mit.edu	37	chr8	145095874	145095874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgcccactccccacctcGtacctcatcctccccggctt	4	23	1	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:145095874G>A	ENST00000377470.3	+	3	1274	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	391						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)			TCCCCACCTCGTACCTCATCC	0.622																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1171-1173)cGt>cAt		spermatogenesis and centriole associated 1							219	96	138					8																	145095874		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145095874G>A	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.1172G>A	8.37:g.145095874G>A	ENSP00000366690:p.Arg391His					SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	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)		3	1274	+	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)		391					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1172G>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633664	0.47049	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.59502	0.26	4.06	2.2	0.27929	.	1.130170	0.06771	N	0.783439	T	0.66829	0.2829	L	0.57536	1.79	0.09310	N	1	D;D	0.76494	0.999;0.994	D;P	0.64595	0.927;0.809	T	0.48969	-0.8987	10	0.24483	T	0.36	-1.0427	5.6227	0.17465	0.1153:0.2015:0.6832:0.0	.	391;391	B4DWW9;Q76KD6	.;SPERI_HUMAN	H	391	ENSP00000366690:R391H	ENSP00000366690:R391H	R	+	2	0	SPATC1	145167862	0.011000	0.17503	0.001000	0.08648	0.118000	0.20060	1.198000	0.32223	0.275000	0.22094	0.462000	0.41574	CGT		0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		23	30	0	0	0	1	0	23	30					A	145095874	G	A	145095874	3	1	440	1	0	0	0	0	1	0	0	0	15016	1145	40	1	1182	1	SPATC1	8	145095874	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	2866931	145095874	1268148	31	37314											
TMEM2	23670	broad.mit.edu	37	chr9	74355062	74355062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgggcaagagccttcccgCcactgctatgattttcatag	9	11	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:74355062C>A	ENST00000377044.4	-	5	1660	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	374					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCCTTCCCGCCACTGCTATG	0.433																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1120-1122)gGc>gTc		transmembrane protein 2							112	106	108					9																	74355062		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74355062C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1121G>T	9.37:g.74355062C>A	ENSP00000366243:p.Gly374Val					TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	5	1660	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	374					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1121G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169920	0.78452	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.74526	-0.85;-0.85	5.65	5.65	0.86999	.	0.095984	0.64402	D	0.000001	T	0.81983	0.4938	M	0.68317	2.08	0.80722	D	1	D;P	0.55800	0.973;0.724	P;B	0.53518	0.728;0.19	T	0.81497	-0.0906	10	0.45353	T	0.12	.	19.7153	0.96115	0.0:1.0:0.0:0.0	.	374;374	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	374	ENSP00000366243:G374V;ENSP00000366266:G374V	ENSP00000366243:G374V	G	-	2	0	TMEM2	73544882	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	7.151000	0.77411	2.673000	0.90976	0.491000	0.48974	GGC		0.433	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		9	79	1	0	0.000274275	1	0.000274275	9	79					A	74355062	C	A	74355062	3	1	440	1	0	0	0	0	1	0	0	0	16118	739	26	4	3110	4	TMEM2	9	74355062	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		74355062	66858369	32	37315											
UBQLN1	29979	broad.mit.edu	37	chr9	86294709	86294717	+	In_Frame_Del	DEL	TTATTCAAC	TTATTCAAC	-													cttgtctcattatatctggaTtattcaacatatgactaatt							TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:86294709_86294717delTTATTCAAC	ENST00000376395.4	-	4	1207_1215	c.684_692delGTTGAATAA	c.(682-693)atgttgaataat>att	p.228_231MLNN>I	UBQLN1_ENST00000257468.7_In_Frame_Del_p.228_231MLNN>I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	228					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						TATATCTGGATTATTCAACATATGACTAA	0.33																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(682-693)att>at		ubiquilin 1																																				SO:0001651	inframe_deletion	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86294709_86294717delTTATTCAAC	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.684_692delGTTGAATAA	9.37:g.86294709_86294717delTTATTCAAC	ENSP00000365576:p.Met228_Asn231delinsIle					UBQLN1_ENST00000257468.7_In_Frame_Del_p.MLNN228del	p.MLNN228del	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			4	1207_1215	-			228					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	In_Frame_Del	DEL	ENST00000376395.4	37	c.684_692delGTTGAATAA	CCDS6663.1																																																																																				0.33	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		31	51						31	51	---	---	---	---	-	86294717	TTATTCAAC	-	86294709	7	5	440	1	0	1	0	1	0	0	0	0	16893	1493	52	0	1109	0	UBQLN1	9	86294709	In_Frame_Del	DEL	TTATTCAAC	TCGA-S9-A7IS-01A-11D-A34A-08	11939647	86294709	54918722	33	37316											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713204	138713204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctccgccggccttccGgaacgggaattccggccttg	12	15	1	0	rs200971914		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:138713204G>A	ENST00000389532.4	-	11	3367	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1101					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)		CCGGCCTTCCGGAACGGGAAT	0.642													g|||	1	0.000199681	0.0	0.0	5008	,	,		15592	0.0		0.001	False		,,,				2504	0.0					ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3301-3303)tcC>tcT		calmodulin regulated spectrin-associated protein 1							34	41	39					9																	138713204		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713204G>A	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.3303C>T	9.37:g.138713204G>A						CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S|CAMSAP1_ENST00000483991.1_5'UTR	p.S1101S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3367	-			1101					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3303C>T	CCDS35176.2																																																																																				0.642	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		20	30	0	0	0	1	0	20	30					A	138713204	G	A	138713204	2	1	440	1	0	0	0	0	0	0	0	1	2611	1103	39	1		1	CAMSAP1	9	138713204	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	52418495	138713204	2500227	34	37317											
STAM	8027	broad.mit.edu	37	chr10	17756581	17756581	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaacacatatcccagCcaggcgccagtatatagtcc	8	13	0	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:17756581C>G	ENST00000377524.3	+	14	1640	c.1425C>G	c.(1423-1425)agC>agG	p.S475R	STAM_ENST00000540523.1_Missense_Mutation_p.S364R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	475					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATATCCCAGCCAGGCGCCAG	0.473																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1423-1425)agC>agG		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							75	76	76					10																	17756581		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17756581C>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1425C>G	10.37:g.17756581C>G	ENSP00000366746:p.Ser475Arg					STAM_ENST00000540523.1_Missense_Mutation_p.S364R	p.S475R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			14	1640	+			475					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.1425C>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	8.884	0.952250	0.18431	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39787	1.36;1.06	5.4	3.56	0.40772	.	0.835709	0.11410	N	0.566868	T	0.26412	0.0645	N	0.14661	0.345	0.41971	D	0.99075	B;B	0.32245	0.361;0.01	B;B	0.29942	0.109;0.025	T	0.02646	-1.1129	10	0.25751	T	0.34	-0.126	11.947	0.52934	0.0:0.8585:0.0:0.1415	.	364;475	B4DZT2;Q92783	.;STAM1_HUMAN	R	475;364	ENSP00000366746:S475R;ENSP00000438073:S364R	ENSP00000366746:S475R	S	+	3	2	STAM	17796587	0.934000	0.31675	0.983000	0.44433	0.039000	0.13416	1.821000	0.39041	0.652000	0.30806	-0.444000	0.05651	AGC		0.473	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		47	102	0	0	0	1	0	47	102					G	17756581	C	G	17756581	3	3	440	1	0	0	0	0	1	0	0	0	15247	738	26	4	1479	4	STAM	10	17756581	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		17756581	117778166	35	37318											
RET	5979	broad.mit.edu	37	chr10	43604537	43604537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaccatgcagctggcggtGctggtcaatgactcagactt	12	12	2	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:43604537G>A	ENST00000355710.3	+	6	1354	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	RET_ENST00000340058.5_Silent_p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	374					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)	AGCTGGCGGTGCTGGTCAATG	0.622		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)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				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						c.(1120-1122)gtG>gtA		ret proto-oncogene	Sunitinib(DB01268)						79	72	74					10																	43604537		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604537G>A	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.1122G>A	10.37:g.43604537G>A						RET_ENST00000340058.5_Silent_p.V374V	p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			6	1354	+		Ovarian(717;0.0423)	374					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1122G>A	CCDS7200.1																																																																																				0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		23	38	0	0	0	1	0	23	38					A	43604537	G	A	43604537	2	1	440	1	0	0	0	0	0	0	0	1	13235	1306	46	2		2	RET	10	43604537	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	25847956	43604537	91930210	36	37319											
PRF1	5551	broad.mit.edu	37	chr10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagtgagggccgatatgCggccacccagctccacagcc	14	15	0	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CM021668	PRF1	M		c.(694-696)cGc>cAc		perforin 1 (pore forming protein)							56	50	52					10																	72358782		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358782C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.695G>A	10.37:g.72358782C>T	ENSP00000398568:p.Arg232His					PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	855	-			232			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.695G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733686	0.69189	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.84873	-1.91;-1.91	5.76	3.9	0.45041	Membrane attack complex component/perforin (MACPF) domain (3);	0.489144	0.21436	N	0.074564	D	0.87317	0.6147	M	0.68952	2.095	0.28340	N	0.921407	D	0.65815	0.995	P	0.55785	0.784	T	0.80955	-0.1151	10	0.48119	T	0.1	-49.3741	8.5644	0.33531	0.0:0.7593:0.0:0.2407	.	232	P14222	PERF_HUMAN	H	232	ENSP00000362305:R232H;ENSP00000398568:R232H	ENSP00000316746:R232H	R	-	2	0	PRF1	72028788	0.002000	0.14202	0.888000	0.34837	0.739000	0.42172	-0.019000	0.12546	1.424000	0.47217	0.655000	0.94253	CGC		0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		3	29	0	0	0	1	0	3	29					T	72358782	C	T	72358782	3	4	440	1	0	0	0	0	1	0	0	0	12478	768	27	1	976	1	PRF1	10	72358782	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	28754245	72358782	63175965	37	37320											
HBB	3043	broad.mit.edu	37	chr11	5248019	5248019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgggtccaagggtagaCcaccagcagcctaagggtgg	14	12	1	1	rs1141387|rs35699671|rs35389895		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5248019C>A	ENST00000335295.4	-	2	152	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	35			V -> D (in Santander; unstable). {ECO:0000269|PubMed:12603091}.|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity). {ECO:0000269|PubMed:12908805}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		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)	Iron Dextran(DB00893)	CAAGGGTAGACCACCAGCAGC	0.507									Sickle Cell Trait																													ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15	GRCh37	CM033781|CM800011|HM971912	HBB	M	rs1141387	c.(103-105)Gtc>Ttc		hemoglobin, beta	Iron Dextran(DB00893)						80	80	80					11																	5248019		2201	4298	6499	SO:0001583	missense	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248019C>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.103G>T	11.37:g.5248019C>A	ENSP00000333994:p.Val35Phe						p.V35F	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	278	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	35		V -> D (in Santander; unstable).|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.103G>T	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939349	0.73557	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.88046	-2.33;-2.33	5.1	5.1	0.69264	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.94591	0.8257	M	0.89840	3.065	0.58432	D	0.999999	D	0.76494	0.999	D	0.75020	0.985	D	0.95236	0.8347	9	0.87932	D	0	-19.5477	17.6123	0.88058	0.0:1.0:0.0:0.0	rs1141387	35	P68871	HBB_HUMAN	F	35	ENSP00000333994:V35F;ENSP00000369671:V35F	ENSP00000333994:V35F	V	-	1	0	HBB	5204595	1.000000	0.71417	0.973000	0.42090	0.735000	0.41995	5.310000	0.65780	2.812000	0.96745	0.555000	0.69702	GTC		0.507	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		21	42	1	0	1.00905e-13	1	1.09808e-13	21	42					A	5248019	C	A	5248019	3	1	440	1	0	0	0	0	1	0	0	0	6978	507	18	4	348	4	HBB	11	5248019	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		5248019	129758497	38	37321											
HBG2	3048	broad.mit.edu	37	chr11	5275635	5275635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcccaaggaagtcagcaCcttcttgccatgtgccttga	8	13	3	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5275635C>A	ENST00000380259.2	-	7	1442	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	HBG2_ENST00000380252.1_Missense_Mutation_p.V58L|HBG2_ENST00000336906.4_Missense_Mutation_p.V68L			P69892	HBG2_HUMAN	hemoglobin, gamma G	68			V -> M (in TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post- translationally). {ECO:0000269|PubMed:21561349}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		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)		GAAGTCAGCACCTTCTTGCCA	0.537																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(202-204)Gtg>Ttg		hemoglobin, gamma G							272	210	231					11																	5275635		2201	4298	6499	SO:0001583	missense	3048							g.chr11:5275635C>A	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.202G>T	11.37:g.5275635C>A	ENSP00000369609:p.Val68Leu					HBG2_ENST00000336906.4_Missense_Mutation_p.V68L|HBG2_ENST00000380252.1_Missense_Mutation_p.V58L	p.V68L						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1442	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.202G>T	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689194	0.48097	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.96334	-3.98;-3.98;-3.98	3.98	2.01	0.26516	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.97911	0.9313	H	0.95437	3.67	0.36208	D	0.851209	P;D	0.60575	0.923;0.988	P;P	0.58721	0.755;0.844	D	0.97994	1.0356	9	0.87932	D	0	.	7.8263	0.29318	0.1597:0.7507:0.0:0.0896	.	68;68	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	L	58;68;68;68	ENSP00000369602:V58L;ENSP00000369609:V68L;ENSP00000338082:V68L	ENSP00000338082:V68L	V	-	1	0	HBG2	5232211	0.971000	0.33674	0.411000	0.26484	0.410000	0.31052	2.866000	0.48420	0.393000	0.25203	0.650000	0.86243	GTG		0.537	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		55	122	1	0	1.07796e-43	1	1.19058e-43	55	122					A	5275635	C	A	5275635	3	1	440	1	0	0	0	0	1	0	0	0	6983	507	18	4	249	4	HBG2	11	5275635	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	27616	5275635	129730881	39	37322											
DCDC1	341019	broad.mit.edu	37	chr11	31312192	31312192	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaatatttaattaaaaattAcctttttcattgtttctttt	1	5	3	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:31312192A>G	ENST00000452803.1	-	7	1162		c.e7+1		DCDC1_ENST00000597505.1_Splice_Site	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1						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)					ATTAAAAATTACCTTTTTCAT	0.333																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.e5+1		doublecortin domain containing 1							39	41	40					11																	31312192		2199	4296	6495	SO:0001630	splice_region_variant	341019				intracellular signal transduction			g.chr11:31312192A>G	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.960+1T>C	11.37:g.31312192A>G						DCDC1_ENST00000452803.1_Splice_Site				P59894	DCDC1_HUMAN			5	960	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000452803.1	37		CCDS7872.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173516	0.57584	.	.	ENSG00000188682	ENST00000452803	.	.	.	5.63	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.261	0.43427	0.9252:0.0:0.0748:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCDC1	31268768	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	3.709000	0.54853	1.072000	0.40860	0.533000	0.62120	.		0.333	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807	Intron	37	45	0	0	0	1	0	37	45					G	31312192	A	G	31312192	5	3	440	1	0	0	0	0	0	0	1	0	4284	405	14	3	114	3	DCDC1	11	31312192	Splice_Site	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	26036557	31312192	103694324	40	37323											
AHNAK	79026	broad.mit.edu	37	chr11	62296869	62296869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctaccttgggcacagAcacatccatatcccctttga	5	15	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:62296869A>G	ENST00000378024.4	-	5	5294	c.5020T>C	c.(5020-5022)Tct>Cct	p.S1674P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1674					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)				TTGGGCACAGACACATCCATA	0.493																																						ENST00000378024.4																			0				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						c.(5020-5022)Tct>Cct		AHNAK nucleoprotein							316	320	319					11																	62296869		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296869A>G	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.5020T>C	11.37:g.62296869A>G	ENSP00000367263:p.Ser1674Pro					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.S1674P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5294	-		Melanoma(852;0.155)	1674					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5020T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	6.350	0.432661	0.12045	.	.	ENSG00000124942	ENST00000378024	T	0.04603	3.59	3.97	-0.809	0.10864	.	0.808003	0.10095	U	0.716714	T	0.13243	0.0321	M	0.78916	2.43	0.30586	N	0.761974	P	0.46020	0.871	P	0.58266	0.836	T	0.21759	-1.0236	10	0.23302	T	0.38	.	5.02	0.14356	0.4555:0.2532:0.0:0.2912	.	1674	Q09666	AHNK_HUMAN	P	1674	ENSP00000367263:S1674P	ENSP00000367263:S1674P	S	-	1	0	AHNAK	62053445	0.000000	0.05858	0.155000	0.22561	0.007000	0.05969	0.090000	0.15025	-0.400000	0.07656	-1.210000	0.01631	TCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		96	319	0	0	0	1	0	96	319					G	62296869	A	G	62296869	3	3	440	1	0	0	0	0	1	0	0	0	414	275	10	3	12772	3	AHNAK	11	62296869	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	30984677	62296869	72709647	41	37324											
PCF11	51585	broad.mit.edu	37	chr11	82877730	82877730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagtctgccaaaagatgGaaatctggttgggaagaaaa	11	6	2	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:82877730G>A	ENST00000298281.4	+	5	2243	c.1791G>A	c.(1789-1791)tgG>tgA	p.W597*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	597					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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 factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAAGATGGAAATCTGGTT	0.343																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1789-1791)tgG>tgA		PCF11 cleavage and polyadenylation factor subunit							74	76	76					11																	82877730		1745	3809	5554	SO:0001587	stop_gained	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877730G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1791G>A	11.37:g.82877730G>A	ENSP00000298281:p.Trp597*						p.W597*	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2243	+			597					A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	ENST00000298281.4	37	c.1791G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	42	9.210834	0.99101	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	.	.	.	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	597	.	.	W	+	3	0	PCF11	82555378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.912000	0.92726	2.885000	0.99019	0.655000	0.94253	TGG		0.343	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		29	48	0	0	0	1	0	29	48					A	82877730	G	A	82877730	4	1	440	1	0	0	0	0	0	1	0	0	11573	1183	41	2	1809	2	PCF11	11	82877730	Nonsense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	20580861	82877730	52128786	42	37325											
FAT3	120114	broad.mit.edu	37	chr11	92535041	92535041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggacagagacacatcCgacgttaatcgccaagtgag	11	11	0	2	rs192587610	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:92535041C>T	ENST00000298047.6	+	9	8879	c.8862C>T	c.(8860-8862)tcC>tcT	p.S2954S	FAT3_ENST00000409404.2_Silent_p.S2954S|FAT3_ENST00000525166.1_Silent_p.S2804S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2954	Cadherin 27. {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)				GAGACACATCCGACGTTAATC	0.527										TCGA Ovarian(4;0.039)			C|||	7	0.00139776	0.0008	0.0086	5008	,	,		21701	0.0		0.0	False		,,,				2504	0.0					ENST00000298047.6																			0				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						c.(8860-8862)tcC>tcT		FAT atypical cadherin 3		C		2,3954		0,2,1976	63	65	65		8862	-10.2	0.1	11		65	0,8300		0,0,4150	no	coding-synonymous	FAT3	NM_001008781.2		0,2,6126	TT,TC,CC		0.0,0.0506,0.0163		2954/4558	92535041	2,12254	1978	4150	6128	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92535041C>T	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.8862C>T	11.37:g.92535041C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.S2804S|FAT3_ENST00000409404.2_Silent_p.S2954S	p.S2954S			Q8TDW7	FAT3_HUMAN			9	8879	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2954			Cadherin 27.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8862C>T																																																																																					0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		21	28	0	0	0	1	0	21	28					T	92535041	C	T	92535041	2	4	440	1	0	0	0	0	0	0	0	1	5691	639	23	1		1	FAT3	11	92535041	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	9657311	92535041	42471475	43	37326											
WNK1	65125	broad.mit.edu	37	chr12	862984	862984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttccgccggagcgtcAtctgtgactccaatgccact	9	15	3	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:862984A>G	ENST00000315939.6	+	1	896	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000537687.1_Missense_Mutation_p.I85V|WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	85					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)			CCGGAGCGTCATCTGTGACTC	0.672																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				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						c.(253-255)Atc>Gtc		WNK lysine deficient protein kinase 1							38	43	41					12																	862984		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:862984A>G	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.253A>G	12.37:g.862984A>G	ENSP00000313059:p.Ile85Val					WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000315939.6_Missense_Mutation_p.I85V|WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	p.I85V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	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)		1	896	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		85					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.253A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718218	0.48622	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.72282	-0.47;-0.48;-0.43;-0.64;-0.48	4.42	4.42	0.53409	.	0.000000	0.52532	D	0.000064	T	0.77798	0.4184	L	0.61218	1.895	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.996	D;D;D	0.77557	0.99;0.978;0.99	T	0.74965	-0.3484	10	0.05721	T	0.95	-8.5153	13.8185	0.63306	1.0:0.0:0.0:0.0	.	85;85;85	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	V	85	ENSP00000441972:I85V;ENSP00000313059:I85V;ENSP00000444465:I85V;ENSP00000392542:I85V;ENSP00000433548:I85V	ENSP00000313059:I85V	I	+	1	0	WNK1	733245	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.471000	0.73562	1.853000	0.53794	0.459000	0.35465	ATC		0.672	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		15	31	0	0	0	1	0	15	31					G	862984	A	G	862984	3	3	440	1	0	0	0	0	1	0	0	0	17374	217	8	3	255	3	WNK1	12	862984	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		862984	132988911	44	37327											
ARID2	196528	broad.mit.edu	37	chr12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-													atcttcacggtctctacaccAgagtcactactttaggcgga							TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)agafs	p.R53fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)		TCTCTACACCAGAGTCACTACT	0.53			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				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						c.(157-159)afs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123891_46123892delAG		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.157_158delAG	12.37:g.46123893_46123894delAG	ENSP00000335044:p.Arg53fs					ARID2_ENST00000422737.1_5'UTR	p.R53fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	329_330	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	53			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.157_158delAG	CCDS31783.1																																																																																				0.53	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		38	71						38	71	---	---	---	---	-	46123892	AG	-	46123891	7	5	440	1	0	1	0	1	0	0	0	0	915	180	7	0	163	0	ARID2	12	46123891	Frame_Shift_Del	DEL	AG	TCGA-S9-A7IS-01A-11D-A34A-08	45260907	46123891	87728004	45	37328											
CHST11	50515	broad.mit.edu	37	chr12	105151332	105151332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactctgccatccctgccaCatccactatgacctcgtggg	7	17	2	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:105151332C>T	ENST00000303694.5	+	3	1249	c.810C>T	c.(808-810)caC>caT	p.H270H	CHST11_ENST00000549260.1_Silent_p.H265H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	270					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATCCCTGCCACATCCACTATG	0.557																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(808-810)caC>caT		carbohydrate (chondroitin 4) sulfotransferase 11							117	97	104					12																	105151332		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151332C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.810C>T	12.37:g.105151332C>T						CHST11_ENST00000549260.1_Silent_p.H265H	p.H270H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1249	+			270					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.810C>T	CCDS9099.1																																																																																				0.557	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		11	15	0	0	0	1	0	11	15					T	105151332	C	T	105151332	2	4	440	1	0	0	0	0	0	0	0	1	3399	477	17	2		2	CHST11	12	105151332	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	59027441	105151332	28700563	46	37329											
FREM2	341640	broad.mit.edu	37	chr13	39263024	39263024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgagctggcagccGgccaggtggtctaccagcat	15	12	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr13:39263024G>A	ENST00000280481.7	+	1	1759	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	515					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)		GCTGGCAGCCGGCCAGGTGGT	0.602																																						ENST00000280481.7																			0				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						c.(1543-1545)Ggc>Agc		FRAS1 related extracellular matrix protein 2							26	25	25					13																	39263024		2203	4299	6502	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263024G>A	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.1543G>A	13.37:g.39263024G>A	ENSP00000280481:p.Gly515Ser						p.G515S	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		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)	1	1759	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	515					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1543G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960626	0.74016	.	.	ENSG00000150893	ENST00000280481	T	0.25579	1.79	5.4	5.4	0.78164	.	0.051165	0.85682	N	0.000000	T	0.43523	0.1251	L	0.43554	1.36	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.25257	-1.0137	10	0.59425	D	0.04	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	515	Q5SZK8	FREM2_HUMAN	S	515	ENSP00000280481:G515S	ENSP00000280481:G515S	G	+	1	0	FREM2	38161024	1.000000	0.71417	0.960000	0.40013	0.930000	0.56654	7.962000	0.87912	2.538000	0.85594	0.561000	0.74099	GGC		0.602	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	8	0	0	0	1	0	4	8					A	39263024	G	A	39263024	3	1	440	1	0	0	0	0	1	0	0	0	6045	1116	39	1	1545	1	FREM2	13	39263024	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		39263024	75906854	47	37330											
C15orf2	23742	broad.mit.edu	37	chr15	24921057	24921057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagacccgggtgccgccgcCggcccctgccagggccaggg	16	17	0	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:24921057C>T	ENST00000329468.2	+	1	517	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	15					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGCCGCCGCCGGCCCCTGCC	0.662																																						ENST00000329468.2																			0											c.(43-45)Cgg>Tgg		nuclear pore associated protein 1							5	7	7					15																	24921057		1886	3920	5806	SO:0001583	missense	23742							g.chr15:24921057C>T	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.43C>T	15.37:g.24921057C>T	ENSP00000333735:p.Arg15Trp						p.R15W	NM_018958.2	NP_061831.2					1	517	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.43C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.016797	0.35606	.	.	ENSG00000185823	ENST00000329468	T	0.09073	3.02	2.29	-4.57	0.03421	.	1.199260	0.06709	N	0.772857	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	B	0.27932	0.194	B	0.14578	0.011	T	0.37663	-0.9696	10	0.66056	D	0.02	.	4.7125	0.12879	0.1597:0.6014:0.0:0.2388	.	15	Q9NZP6	CO002_HUMAN	W	15	ENSP00000333735:R15W	ENSP00000333735:R15W	R	+	1	2	C15orf2	22472150	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.564000	0.02152	-1.481000	0.01863	-0.373000	0.07131	CGG		0.662	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	11	0	0	0	1	0	6	11					T	24921057	C	T	24921057	3	4	440	1	0	0	0	0	1	0	0	0	1784	643	23	1	45	1	C15orf2	15	24921057	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		24921057	77610335	48	37331											
GABRG3	2567	broad.mit.edu	37	chr15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgtttgtcttcgccgCgctgatggagtatgccaccc	10	14	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:27772702C>T	ENST00000333743.6	+	8	1243	c.989C>T	c.(988-990)gCg>gTg	p.A330V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.A330V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|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)	GTCTTCGCCGCGCTGATGGAG	0.547																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			1	Substitution - Missense(1)	p.A330V(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(988-990)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, gamma 3							113	103	106					15																	27772702		2155	4263	6418	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772702C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.989C>T	15.37:g.27772702C>T	ENSP00000331912:p.Ala330Val					RP11-100M12.3_ENST00000556642.1_RNA	p.A330V	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1243	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	330					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.989C>T	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150729|4.150729	0.78001|0.78001	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743|ENST00000451330	D|.	0.87256|.	-2.23|.	5.48|5.48	4.56|4.56	0.56223|0.56223	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.052637|.	0.85682|.	N|.	0.000000|.	T|T	0.69314|0.69314	0.3097|0.3097	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.68277|0.68277	-0.5451|-0.5451	10|5	0.87932|.	D|.	0|.	.|.	13.4591|13.4591	0.61217|0.61217	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	330|.	Q99928|.	GBRG3_HUMAN|.	V|C	330|93	ENSP00000331912:A330V|.	ENSP00000331912:A330V|.	A|R	+|+	2|1	0|0	GABRG3|GABRG3	25446297|25446297	1.000000|1.000000	0.71417|0.71417	0.515000|0.515000	0.27774|0.27774	0.397000|0.397000	0.30659|0.30659	7.461000|7.461000	0.80834|0.80834	1.306000|1.306000	0.44926|0.44926	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.547	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			19	14	0	0	0	1	0	19	14					T	27772702	C	T	27772702	3	4	440	1	0	0	0	0	1	0	0	0	6173	768	27	1	1019	1	GABRG3	15	27772702	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	2851645	27772702	74758690	49	37332											
OCA2	4948	broad.mit.edu	37	chr15	28263615	28263615	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accacgatgtgctcttccctCccaggacgactcggcccact	8	18	1	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000353809.5_Silent_p.G245G|OCA2_ENST00000382996.2_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(733-735)ggG>ggA		oculocutaneous albinism II							38	34	36					15																	28263615		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28263615C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.735G>A	15.37:g.28263615C>T						OCA2_ENST00000353809.5_Silent_p.G245G|OCA2_ENST00000382996.2_Silent_p.G245G	p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	7	890	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	245					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.735G>A	CCDS10020.1																																																																																				0.612	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		4	27	0	0	0	1	0	4	27					T	28263615	C	T	28263615	2	4	440	1	0	0	0	0	0	0	0	1	10815	842	30	2		2	OCA2	15	28263615	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	490913	28263615	74267777	50	37333											
LYSMD4	145748	broad.mit.edu	37	chr15	100269717	100269717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatccccttaaagaagcCcatcagttggccggcctggg	11	13	2	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:100269717C>T	ENST00000409796.1	-	3	564	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S|LYSMD4_ENST00000545021.1_Missense_Mutation_p.G42S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000604213.1_Intron	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	168						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TTAAAGAAGCCCATCAGTTGG	0.567																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(124-126)Ggc>Agc		LysM, putative peptidoglycan-binding, domain containing 4							73	72	72					15																	100269717		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269717C>T	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.502G>A	15.37:g.100269717C>T	ENSP00000386283:p.Gly168Ser					LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000409796.1_Missense_Mutation_p.G168S	p.G42S			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	938	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		168					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.124G>A		.	.	.	.	.	.	.	.	.	.	C	8.002	0.755572	0.15846	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.83	2.71	0.32032	.	0.209867	0.48767	D	0.000176	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.11329	0.006;0.0	T	0.38112	-0.9676	10	0.19147	T	0.46	-25.2803	7.5067	0.27549	0.0:0.702:0.1335:0.1645	.	169;168	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	S	168;169;168;42	ENSP00000386283:G168S;ENSP00000342840:G169S;ENSP00000333008:G168S;ENSP00000445357:G42S	ENSP00000333008:G168S	G	-	1	0	LYSMD4	98087240	0.515000	0.26210	0.405000	0.26409	0.331000	0.28603	1.373000	0.34272	0.427000	0.26145	0.655000	0.94253	GGC		0.567	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		41	113	0	0	0	1	0	41	113					T	100269717	C	T	100269717	3	4	440	1	0	0	0	0	1	0	0	0	9127	623	22	2	392	2	LYSMD4	15	100269717	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	72006102	100269717	2261675	51	37334											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140076	3140076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctggtcctgggcgtgCgccagcaggtgctgcacaag	16	12	1	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:3140076C>T	ENST00000252463.2	-	5	1281	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	ZSCAN10_ENST00000538082.2_Silent_p.A316A|ZSCAN10_ENST00000575108.1_Silent_p.A59A|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	398					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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTGGGCGTGCGCCAGCAGGT	0.697																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1192-1194)gcG>gcA		zinc finger and SCAN domain containing 10							10	14	13					16																	3140076		2129	4144	6273	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140076C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	12997	protein-coding gene	gene with protein product			"zinc finger protein 206"	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1194G>A	16.37:g.3140076C>T						ZSCAN10_ENST00000575108.1_Silent_p.A59A|ZSCAN10_ENST00000538082.2_Silent_p.A316A	p.A398A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1281	-			398					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1194G>A	CCDS10493.1																																																																																				0.697	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		12	14	0	0	0	1	0	12	14					T	3140076	C	T	3140076	2	4	440	1	0	0	0	0	0	0	0	1	18224	755	27	1		1	ZSCAN10	16	3140076	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		3140076	87214677	52	37335											
DNAH3	55567	broad.mit.edu	37	chr16	21031081	21031081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgttgatggtgccagccaCggtccacaccaaggaaaaga	12	11	0	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:21031081C>T	ENST00000261383.3	-	41	5886	c.5887G>A	c.(5887-5889)Gtg>Atg	p.V1963M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1963					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)		GTGCCAGCCACGGTCCACACC	0.488																																						ENST00000261383.3																			0				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						c.(5887-5889)Gtg>Atg		dynein, axonemal, heavy chain 3							124	112	116					16																	21031081		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21031081C>T	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.5887G>A	16.37:g.21031081C>T	ENSP00000261383:p.Val1963Met					DNAH3_ENST00000415178.1_3'UTR	p.V1963M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	41	5886	-			1963					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5887G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616979	0.28801	.	.	ENSG00000158486	ENST00000261383	T	0.27557	1.66	5.73	3.7	0.42460	.	0.520211	0.18991	N	0.125584	T	0.30166	0.0756	M	0.71871	2.18	0.80722	D	1	D	0.53885	0.963	B	0.42422	0.387	T	0.07501	-1.0769	10	0.44086	T	0.13	.	5.1279	0.14894	0.1414:0.5785:0.0:0.2801	.	1963	Q8TD57	DYH3_HUMAN	M	1963	ENSP00000261383:V1963M	ENSP00000261383:V1963M	V	-	1	0	DNAH3	20938582	0.001000	0.12720	0.216000	0.23742	0.995000	0.86356	-0.131000	0.10482	0.698000	0.31739	0.558000	0.71614	GTG		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	42	0	0	0	1	0	4	42					T	21031081	C	T	21031081	3	4	440	1	0	0	0	0	1	0	0	0	4603	536	19	1	6550	1	DNAH3	16	21031081	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	17891005	21031081	69323672	53	37336											
CHD9	80205	broad.mit.edu	37	chr16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagagagagatgtttgacCgagccagtttgaaactgggc	14	6	0	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:53288443C>T	ENST00000398510.3	+	17	4042	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				GATGTTTGACCGAGCCAGTTT	0.413																																						ENST00000566029.1																			0				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						c.(3955-3957)Cga>Tga		chromodomain helicase DNA binding protein 9							222	216	218					16																	53288443		1871	4108	5979	SO:0001587	stop_gained	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53288443C>T	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.3955C>T	16.37:g.53288443C>T	ENSP00000381522:p.Arg1319*					CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*	p.R1319*			Q3L8U1	CHD9_HUMAN			18	4164	+		all_cancers(37;0.0212)	1319			Helicase C-terminal.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37	c.3955C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.421252	0.99402	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.48	4.5	0.54988	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.8648	13.543	0.61686	0.3403:0.6597:0.0:0.0	.	.	.	.	X	1319;1319;845	.	ENSP00000219084:R845X	R	+	1	2	CHD9	51845944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.458000	0.35223	1.268000	0.44264	0.650000	0.86243	CGA		0.413	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		13	143	0	0	0	1	0	13	143					T	53288443	C	T	53288443	4	4	440	1	0	0	0	0	0	1	0	0	3332	644	23	1	4021	1	CHD9	16	53288443	Nonsense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	32257362	53288443	37066310	54	37337											
TNS4	84951	broad.mit.edu	37	chr17	38635967	38635967	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgccctgctctgtgacTttgaagtggaccacggtggg	15	9	1	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr17:38635967T>C	ENST00000254051.6	-	10	2027	c.1869A>G	c.(1867-1869)aaA>aaG	p.K623K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	623	Phosphatase tensin-type.			K -> E (in Ref. 1; AAN32666 and 3; BAB55413). {ECO:0000305}.	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)			GCTCTGTGACTTTGAAGTGGA	0.617																																						ENST00000254051.6																			0				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						c.(1867-1869)aaA>aaG		tensin 4							127	95	106					17																	38635967		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38635967T>C	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.1869A>G	17.37:g.38635967T>C							p.K623K	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		10	2027	-		Breast(137;0.000496)	623	K -> E (in Ref. 1; AAN32666 and 3; BAB55413).		Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1869A>G	CCDS11368.1																																																																																				0.617	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		3	67	0	0	0	1	0	3	67					C	38635967	T	C	38635967	2	2	440	1	0	0	0	0	0	0	0	1	16342	1606	56	3		3	TNS4	17	38635967	Silent	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08		38635967	42559243	55	37338											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-													gctgcacatggagcagcggaAgcagcagcagcagcagcagc							TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(1198-1203)aag>a		nucleobindin 1																																				SO:0001651	inframe_deletion	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49425109_49425111delAGC	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1199_1201delAGC	19.37:g.49425118_49425120delAGC	ENSP00000385923:p.Gln407del					NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del	p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	12	1533_1535	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	400					B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	ENST00000405315.4	37	c.1199_1201delAGC	CCDS12740.1																																																																																				0.64	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		7	40						7	40	---	---	---	---	-	49425111	AGC	-	49425109	7	5	440	1	0	1	0	1	0	0	0	0	10718	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-S9-A7IS-01A-11D-A34A-08		49425109	9703874	56	37339											
KLK12	43849	broad.mit.edu	37	chr19	51535256	51535256	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaggcgcagccgcagCagccggaggtcgtgctcgtg	18	13	0	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51535256C>A	ENST00000525263.1	-	3	452	c.333G>T	c.(331-333)ctG>ctT	p.L111L	KLK12_ENST00000250351.4_Silent_p.L111L|KLK12_ENST00000319590.4_Silent_p.L111L|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	111	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)		GCAGCCGCAGCAGCCGGAGGT	0.682																																						ENST00000525263.1																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(331-333)ctG>ctT		kallikrein-related peptidase 12							31	29	30					19																	51535256		2194	4283	6477	SO:0001819	synonymous_variant	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535256C>A		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.333G>T	19.37:g.51535256C>A						KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.L111L|KLK12_ENST00000250351.4_Silent_p.L111L	p.L111L			Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	452	-		all_neural(266;0.026)	111			Peptidase S1.		Q9UKR1|Q9UKR2	Silent	SNP	ENST00000525263.1	37	c.333G>T	CCDS12821.1																																																																																				0.682	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		19	21	1	0	7.41877e-09	1	7.73224e-09	19	21					A	51535256	C	A	51535256	2	1	440	1	0	0	0	0	0	0	0	1	8400	697	25	4		4	KLK12	19	51535256	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	2110147	51535256	7593727	57	37340											
LILRA4	23547	broad.mit.edu	37	chr19	54849448	54849448	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcacaccggagggtcacGttcactcctgaggtcaccac	12	14	3	1	rs138743259	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:54849448G>A	ENST00000291759.4	-	4	470	c.414C>T	c.(412-414)aaC>aaT	p.N138N	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	138	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGAGGGTCACGTTCACTCCTG	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18655	0.0		0.0	False		,,,				2504	0.0					ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(412-414)aaC>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4		G		2,4404		0,2,2201	57	58	58		414	-2.7	0.2	19	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	LILRA4	NM_012276.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		138/500	54849448	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54849448G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.414C>T	19.37:g.54849448G>A							p.N138N	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	470	-	Ovarian(34;0.19)		138			Ig-like C2-type 2.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.414C>T	CCDS12890.1																																																																																				0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		18	37	0	0	0	1	0	18	37					A	54849448	G	A	54849448	2	1	440	1	0	0	0	0	0	0	0	1	8787	1136	40	1		1	LILRA4	19	54849448	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	3314192	54849448	4279535	58	37341											
SEL1L2	80343	broad.mit.edu	37	chr20	13856732	13856732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagtagcgttattttgCggcacggcagcattcccctc	11	12	0	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:13856732C>T	ENST00000284951.5	-	12	1130	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	352						integral component of membrane (GO:0016021)		p.P352P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGTTATTTTGCGGCACGGCAG	0.348																																						ENST00000284951.5																			1	Substitution - coding silent(1)	p.P352P(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1054-1056)ccG>ccA		sel-1 suppressor of lin-12-like 2 (C. elegans)							173	165	168					20																	13856732		1915	4123	6038	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856732C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1056G>A	20.37:g.13856732C>T						SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P	p.P352P			Q5TEA6	SE1L2_HUMAN			12	1130	-			352					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1056G>A																																																																																					0.348	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		45	72	0	0	0	1	0	45	72					T	13856732	C	T	13856732	2	4	440	1	0	0	0	0	0	0	0	1	14011	755	27	1		1	SEL1L2	20	13856732	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		13856732	49168788	59	37342											
CD93	22918	broad.mit.edu	37	chr20	23065956	23065956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaggtcatccagcagccGgaatcctggtcggcagccgc	12	16	1	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:23065956G>A	ENST00000246006.4	-	1	1021	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	292	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.R292G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCAGCAGCCGGAATCCTGGT	0.627																																						ENST00000246006.4																			1	Substitution - Missense(1)	p.R292G(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(874-876)Cgg>Tgg		CD93 molecule							70	78	75					20																	23065956		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065956G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.874C>T	20.37:g.23065956G>A	ENSP00000246006:p.Arg292Trp						p.R292W	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1021	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		292			EGF-like 1.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.874C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545734	0.65198	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	D	0.87571	-2.27	5.51	3.52	0.40303	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.368951	0.22983	N	0.053290	D	0.92084	0.7491	M	0.86268	2.805	0.32524	N	0.535883	D	0.89917	1.0	D	0.63283	0.913	D	0.92303	0.5851	10	0.66056	D	0.02	-42.1424	8.8426	0.35151	0.0:0.2451:0.4849:0.27	.	292	Q9NPY3	C1QR1_HUMAN	W	292	ENSP00000246006:R292W	ENSP00000246006:R292W	R	-	1	2	CD93	23013956	0.119000	0.22226	0.998000	0.56505	0.859000	0.49053	0.456000	0.21859	0.753000	0.32945	0.650000	0.86243	CGG		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		54	80	0	0	0	1	0	54	80					A	23065956	G	A	23065956	3	1	440	1	0	0	0	0	1	0	0	0	3047	1115	39	1	1092	1	CD93	20	23065956	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	9209224	23065956	39959564	60	37343											
P2RY8	286530	broad.mit.edu	37	chrX	1585386	1585386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacgggcagggccaccgcGatcgccgggttccgcagcat	14	16	0	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:1585386G>A	ENST00000381297.4	-	2	276	c.66C>T	c.(64-66)atC>atT	p.I22I	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GGGCCACCGCGATCGCCGGGT	0.697			T	CRLF2	"B-ALL, Downs associated ALL"								g|||	1	0.000199681	0.0	0.0	5008	,	,		12375	0.001		0.0	False		,,,				2504	0.0					ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(64-66)atC>atT		purinergic receptor P2Y, G-protein coupled, 8							33	37	36					X																	1585386		2203	4294	6497	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585386G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.66C>T	X.37:g.1585386G>A						P2RY8_ENST00000460672.1_5'UTR	p.I22I	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	276	-		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)	22						Silent	SNP	ENST00000381297.4	37	c.66C>T	CCDS14115.1																																																																																				0.697	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		5	24	0	0	0	1	0	5	24					A	1585386	G	A	1585386	2	1	440	1	0	0	0	0	0	0	0	1	11355	1048	37	1		1	P2RY8	23	1585386	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		1585386	153685174	61	37344											
ATRX	546	broad.mit.edu	37	chrX	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-													ttcattttgttttccagttcTttttttcccttcttctggct							TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:76920173delT	ENST00000373344.5	-	11	4118	c.3904delA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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						TTTCCAGTTCTTTTTTTCCCT	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(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						c.(3904-3906)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						196	176	183					X																	76920173		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920173delT	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.3904delA	X.37:g.76920173delT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs	p.R1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3904delA	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	90						71	90	---	---	---	---	-	76920173	T	-	76920173	7	5	440	1	0	1	0	1	0	0	0	0	1208	1617	56	0	3674	0	ATRX	23	76920173	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	75334787	76920173	78350387	62	37345											
RNF113A	7737	broad.mit.edu	37	chrX	119004589	119004589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcggggtcttctggcaagtCggaagcaccaccctctcctg	11	14	3	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:119004589C>T	ENST00000371442.2	-	1	1202	c.988G>A	c.(988-990)Gac>Aac	p.D330N	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	330							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCTGGCAAGTCGGAAGCACCA	0.418																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(988-990)Gac>Aac		ring finger protein 113A							135	140	138					X																	119004589		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119004589C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.988G>A	X.37:g.119004589C>T	ENSP00000360497:p.Asp330Asn						p.D330N	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	1202	-			330					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.988G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	4.864	0.160644	0.09287	.	.	ENSG00000125352	ENST00000371442	T	0.32272	1.46	5.24	4.39	0.52855	.	0.606372	0.15569	N	0.255571	T	0.21468	0.0517	N	0.21448	0.665	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14755	-1.0461	10	0.36615	T	0.2	-39.1074	11.1275	0.48328	0.0:0.9074:0.0:0.0926	.	330	O15541	R113A_HUMAN	N	330	ENSP00000360497:D330N	ENSP00000360497:D330N	D	-	1	0	RNF113A	118888617	0.303000	0.24463	0.002000	0.10522	0.148000	0.21650	2.184000	0.42575	1.118000	0.41863	-0.190000	0.12839	GAC		0.418	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		94	150	0	0	0	1	0	94	150					T	119004589	C	T	119004589	3	4	440	1	0	0	0	0	1	0	0	0	13427	884	31	1	47	1	RNF113A	23	119004589	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	42084416	119004589	36265971	63	37346											
IGSF1	3547	broad.mit.edu	37	chrX	130409952	130409952	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccagtcacccagatcataAggggcatactgagatatgac	9	10	2	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:130409952A>G	ENST00000361420.3	-	15	2958	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000370904.1_Missense_Mutation_p.L951P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	960					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						CCAGATCATAAGGGGCATACT	0.507																																						ENST00000370904.1																			0				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						c.(2851-2853)cTt>cCt		immunoglobulin superfamily, member 1							83	65	71					X																	130409952		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409952A>G	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.2879T>C	X.37:g.130409952A>G	ENSP00000355010:p.Leu960Pro					IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000361420.3_Missense_Mutation_p.L960P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P	p.L951P			Q8N6C5	IGSF1_HUMAN			21	3762	-			960			Ig-like C2-type 9.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2852T>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.871016	0.33069	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01043	5.41;5.41;5.41;5.41	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.301460	0.05760	N	0.604733	T	0.12008	0.0292	H	0.96048	3.76	0.50313	D	0.99986	D;P;P	0.54207	0.965;0.923;0.948	P;P;P	0.61003	0.762;0.882;0.549	T	0.00080	-1.2109	10	0.87932	D	0	.	10.6624	0.45710	1.0:0.0:0.0:0.0	.	951;404;960	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	P	951;960;951;965	ENSP00000359947:L951P;ENSP00000355010:L960P;ENSP00000359941:L951P;ENSP00000359940:L965P	ENSP00000355010:L960P	L	-	2	0	IGSF1	130237633	0.859000	0.29813	0.701000	0.30321	0.491000	0.33493	1.967000	0.40491	1.858000	0.53909	0.486000	0.48141	CTT		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			37	68	0	0	0	1	0	37	68					G	130409952	A	G	130409952	3	3	440	1	0	0	0	0	1	0	0	0	7596	72	3	3	1155	3	IGSF1	23	130409952	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	11405363	130409952	24860608	64	37347											
MAST2	23139	broad.mit.edu	37	chr1	46295175	46295175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggtgacttggcagtcGtcaggagaagcatcaaacct	13	9	2	2	rs558908632		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:46295175G>A	ENST00000361297.2	+	3	673	c.390G>A	c.(388-390)tcG>tcA	p.S130S	MAST2_ENST00000372009.2_Silent_p.S130S	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)					CTTGGCAGTCGTCAGGAGAAG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17636	0.0		0.0	False		,,,				2504	0.0					ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(388-390)tcG>tcA		microtubule associated serine/threonine kinase 2							97	92	94					1																	46295175		1962	4159	6121	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46295175G>A	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.390G>A	1.37:g.46295175G>A						MAST2_ENST00000372009.2_Silent_p.S130S	p.S130S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			3	673	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		130						Silent	SNP	ENST00000361297.2	37	c.390G>A	CCDS41326.1																																																																																				0.468	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		18	42	0	0	0	1	0	18	42					A	46295175	G	A	46295175	2	1	441	1	0	0	0	0	0	0	0	1	9325	1132	40	1		1	MAST2	1	46295175	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		46295175	202955446	1	37348											
ECHDC2	55268	broad.mit.edu	37	chr1	53377301	53377301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacttgccggtcctcccGcagctgggccagagtttcca	11	16	0	1	rs368580572		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:53377301G>A	ENST00000371522.4	-	3	307	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000536120.1_Missense_Mutation_p.R26W	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	72					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CGGTCCTCCCGCAGCTGGGCC	0.612																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(76-78)Cgg>Tgg		enoyl CoA hydratase domain containing 2		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75	76	76		214,214,214	3.4	1	1		76	0,8600		0,0,4300	no	missense,missense,missense	ECHDC2	NM_001198961.1,NM_001198962.1,NM_018281.3	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	72/293,72/245,72/262	53377301	1,13005	2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377301G>A	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.214C>T	1.37:g.53377301G>A	ENSP00000360577:p.Arg72Trp					ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000371522.4_Missense_Mutation_p.R72W	p.R26W			Q86YB7	ECHD2_HUMAN			6	893	-			72					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.76C>T	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489629	0.64074	2.27E-4	0.0	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.77620	-0.4;-1.11;-0.4;-1.11;-0.4	4.35	3.42	0.39159	Crotonase, core (1);	0.577844	0.19138	N	0.121755	D	0.83179	0.5198	M	0.78637	2.42	0.33232	D	0.556001	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.57846	0.828;0.823;0.62	D	0.86433	0.1762	10	0.87932	D	0	.	7.3808	0.26854	0.0902:0.0:0.7394:0.1704	.	26;72;72	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	W	72;72;26;72;26	ENSP00000360577:R72W;ENSP00000351125:R72W;ENSP00000439264:R26W;ENSP00000441962:R72W;ENSP00000445358:R26W	ENSP00000351125:R72W	R	-	1	2	ECHDC2	53149889	0.995000	0.38212	0.985000	0.45067	0.713000	0.41058	6.783000	0.75078	1.162000	0.42619	0.556000	0.70494	CGG		0.612	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		3	42	0	0	0	1	0	3	42					A	53377301	G	A	53377301	3	1	441	1	0	0	0	0	1	0	0	0	4894	1086	38	1	599	1	ECHDC2	1	53377301	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	7082126	53377301	195873320	2	37349											
TGFBR3	7049	broad.mit.edu	37	chr1	92181894	92181894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttgaaggtgatgtttcCgtggggctgttcctggaagc	15	7	0	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:92181894C>T	ENST00000525962.1	-	11	1826	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R|TGFBR3_ENST00000212355.4_Missense_Mutation_p.G589R			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	589	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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)		GTGATGTTTCCGTGGGGCTGT	0.483																																						ENST00000212355.4																			0				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						c.(1765-1767)Gga>Aga		transforming growth factor, beta receptor III							157	156	156					1																	92181894		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92181894C>T	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.1765G>A	1.37:g.92181894C>T	ENSP00000436127:p.Gly589Arg					TGFBR3_ENST00000525962.1_Missense_Mutation_p.G589R|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R	p.G589R	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2230	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	589			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1765G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	5.250	0.231538	0.09969	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.55	1.87	0.25490	Zona pellucida sperm-binding protein (3);	0.546111	0.20561	N	0.089905	T	0.49423	0.1556	N	0.04724	-0.175	0.09310	N	1	B;B;B	0.18166	0.026;0.021;0.026	B;B;B	0.12156	0.007;0.004;0.007	T	0.49051	-0.8979	10	0.46703	T	0.11	-1.1617	9.1291	0.36835	0.0:0.521:0.0:0.479	.	589;588;589	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	R	589;588;589;588	ENSP00000212355:G589R;ENSP00000359426:G588R;ENSP00000436127:G589R;ENSP00000432638:G588R	ENSP00000212355:G589R	G	-	1	0	TGFBR3	91954482	0.026000	0.19158	0.072000	0.20136	0.624000	0.37722	0.740000	0.26188	0.551000	0.29008	0.655000	0.94253	GGA		0.483	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		16	44	0	0	0	1	0	16	44					T	92181894	C	T	92181894	3	4	441	1	0	0	0	0	1	0	0	0	15820	661	23	1	814	1	TGFBR3	1	92181894	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	38804593	92181894	157068727	3	37350											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784871	149784871	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggccaactggatgtccttGggcatgatggtcacgcgctt	14	11	1	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:149784871G>C	ENST00000331491.1	-	1	365	c.366C>G	c.(364-366)ccC>ccG	p.P122P	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	122					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						GGATGTCCTTGGGCATGATGG	0.602																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(364-366)ccC>ccG		histone cluster 2, H3d							46	47	47					1																	149784871		1568	3582	5150	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149784871G>C	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.366C>G	1.37:g.149784871G>C							p.P122P	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	365	-			122					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.366C>G	CCDS41388.1																																																																																				0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		20	47	0	0	0	1	0	20	47					C	149784871	G	C	149784871	2	2	441	1	0	0	0	0	0	0	0	1	7181	1335	47	4		4	HIST2H3D	1	149784871	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	57602977	149784871	99465750	4	37351											
TBX19	9095	broad.mit.edu	37	chr1	168282171	168282171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggacagcagtggcctcGcatcccttcgcgggctgggg	15	14	0	0	rs200161002		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:168282171G>A	ENST00000367821.3	+	8	1329	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	426					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CAGTGGCCTCGCATCCCTTCG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		19916	0.001		0.0	False		,,,				2504	0.0					ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(1276-1278)tcG>tcA		T-box 19							46	46	46					1																	168282171		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168282171G>A	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"T-boxes"	11596	protein-coding gene	gene with protein product	"TBS 19"	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1278G>A	1.37:g.168282171G>A						TBX19_ENST00000465440.1_3'UTR	p.S426S	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			8	1329	+	all_hematologic(923;0.215)		426					Q52M53	Silent	SNP	ENST00000367821.3	37	c.1278G>A	CCDS1272.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	3.758	-0.050132	0.07407	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.12553	-1.0543	3	.	.	.	.	3.7652	0.08620	0.5356:0.192:0.1135:0.1589	.	.	.	.	T	296;259	.	.	A	+	1	0	TBX19	166548795	0.005000	0.15991	0.193000	0.23327	0.452000	0.32318	-2.090000	0.01356	-2.324000	0.00638	-1.987000	0.00451	GCA		0.627	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		9	29	0	0	0	1	0	9	29					A	168282171	G	A	168282171	2	1	441	1	0	0	0	0	0	0	0	1	15651	1074	38	1		1	TBX19	1	168282171	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	18497300	168282171	80968450	5	37352											
PTPRC	5788	broad.mit.edu	37	chr1	198711064	198711064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccagctggccagaccacgggGtgcctgaggatcctcacttg	13	14	1	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:198711064G>C	ENST00000367376.2	+	24	2635	c.2464G>C	c.(2464-2466)Gtg>Ctg	p.V822L	PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	822	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						AGACCACGGGGTGCCTGAGGA	0.453																																						ENST00000367376.2																			0				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						c.(2464-2466)Gtg>Ctg		protein tyrosine phosphatase, receptor type, C							63	60	61					1																	198711064		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711064G>C	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.2464G>C	1.37:g.198711064G>C	ENSP00000356346:p.Val822Leu					PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L	p.V822L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			24	2635	+			822			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2464G>C		.	.	.	.	.	.	.	.	.	.	G	33	5.252985	0.95336	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.84660	-1.88	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.44097	D	0.000495	D	0.93465	0.7915	M	0.83012	2.62	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	D	0.93270	0.6651	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	663;774;822	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	L	824;774;822;661	ENSP00000193532:V774L	ENSP00000306782:V661L	V	+	1	0	PTPRC	196977687	1.000000	0.71417	0.989000	0.46669	0.905000	0.53344	9.761000	0.98940	2.884000	0.98904	0.655000	0.94253	GTG		0.453	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	35	0	0	0	1	0	14	35					C	198711064	G	C	198711064	3	2	441	1	0	0	0	0	1	0	0	0	12797	1261	44	4	2565	4	PTPRC	1	198711064	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	30428893	198711064	50539557	6	37353											
NPHP1	4867	broad.mit.edu	37	chr2	110904384	110904384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttaagaaacacccagccaCagcttaactctcctctttca	4	14	3	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:110904384C>T	ENST00000393272.3	-	14	1560	c.1463G>A	c.(1462-1464)tGt>tAt	p.C488Y	NPHP1_ENST00000316534.4_Missense_Mutation_p.C489Y|NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	488					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CACCCAGCCACAGCTTAACTC	0.358																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(1465-1467)tGt>tAt		nephronophthisis 1 (juvenile)							97	100	99					2																	110904384		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110904384C>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1463G>A	2.37:g.110904384C>T	ENSP00000376953:p.Cys488Tyr					NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000393272.3_Missense_Mutation_p.C488Y|NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y	p.C489Y			O15259	NPHP1_HUMAN			14	1539	-			488					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.1466G>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296326	0.81025	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.67523	-0.22;-0.21;-0.22;-0.16;-0.27	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	M	0.72479	2.2	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;0.999;0.999;0.999;1.0;0.999	T	0.82500	-0.0426	10	0.87932	D	0	-15.3577	18.0887	0.89466	0.0:1.0:0.0:0.0	.	432;432;370;488;433;489	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	Y	489;433;488;370;432	ENSP00000313169:C489Y;ENSP00000389879:C433Y;ENSP00000376953:C488Y;ENSP00000347452:C370Y;ENSP00000402176:C432Y	ENSP00000313169:C489Y	C	-	2	0	NPHP1	110261673	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.319000	0.72871	2.873000	0.98535	0.563000	0.77884	TGT		0.358	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		19	51	0	0	0	1	0	19	51					T	110904384	C	T	110904384	3	4	441	1	0	0	0	0	1	0	0	0	10579	478	17	2	763	2	NPHP1	2	110904384	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		110904384	132294989	7	37354											
TTN	7273	broad.mit.edu	37	chr2	179394741	179394741	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgaattttttactgTacaagtataaagtccactgt	6	8	0	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:179394741T>A	ENST00000591111.1	-	309	101778	c.101554A>T	c.(101554-101556)Aca>Tca	p.T33852S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T35493S|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32925S			Q8WZ42	TITIN_HUMAN	titin	33852	Ig-like 149.				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)			TTTTTTACTGTACAAGTATAA	0.348																																						ENST00000589042.1																			0				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						c.(106477-106479)Aca>Tca		titin							104	100	101					2																	179394741		1807	4071	5878	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179394741T>A	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.101554A>T	2.37:g.179394741T>A	ENSP00000465570:p.Thr33852Ser					TTN_ENST00000342992.6_Missense_Mutation_p.T32925S|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33852S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA	p.T35493S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		359	106701	-			33852					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	ENST00000591111.1	37	c.106477A>T		.	.	.	.	.	.	.	.	.	.	T	12.62	1.992982	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72684	0.3491	L	0.37466	1.105	0.32091	N	0.591836	D;D;D;D	0.65815	0.991;0.991;0.991;0.995	P;P;P;D	0.64506	0.82;0.82;0.82;0.926	T	0.77986	-0.2381	9	0.87932	D	0	.	12.4895	0.55891	0.0:0.0:0.0:1.0	.	26428;26553;26620;33852	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	32925;26428;26620;26553;26425	ENSP00000343764:T32925S;ENSP00000434586:T26428S;ENSP00000340554:T26620S;ENSP00000352154:T26553S	ENSP00000340554:T26620S	T	-	1	0	TTN	179102987	1.000000	0.71417	0.755000	0.31263	0.163000	0.22366	3.899000	0.56288	2.215000	0.71742	0.459000	0.35465	ACA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	54	0	0	0	1	0	16	54					A	179394741	T	A	179394741	3	1	441	1	0	0	0	0	1	0	0	0	16732	1638	57	5	1518	5	TTN	2	179394741	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	68490357	179394741	63804632	8	37355											
STK11IP	114790	broad.mit.edu	37	chr2	220473305	220473305	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttggtctctccacagCggaactctgtcgccccttgt	8	15	3	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:220473305C>T	ENST00000456909.1	+	15	1694	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	STK11IP_ENST00000295641.10_Splice_Site_p.A546V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	546	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)		CTCTCCACAGCGGAACTCTGT	0.632																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.e15-1		serine/threonine kinase 11 interacting protein							38	41	40					2																	220473305		1965	4143	6108	SO:0001630	splice_region_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473305C>T	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.1604-1C>T	2.37:g.220473305C>T						STK11IP_ENST00000295641.10_Splice_Site_p.A546_splice	p.A535_splice			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1694	+		Renal(207;0.0183)	546			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Splice_Site	SNP	ENST00000456909.1	37	c.1603_splice		.	.	.	.	.	.	.	.	.	.	C	8.915	0.959715	0.18507	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.03635	3.86;3.86	4.65	0.585	0.17428	.	0.720992	0.12697	N	0.446714	T	0.02267	0.0070	N	0.14661	0.345	0.28273	N	0.92431	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.15052	0.004;0.012;0.012	T	0.46303	-0.9201	9	.	.	.	.	7.6327	0.28249	0.0:0.5043:0.0:0.4957	.	514;546;546	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	V	535;514;546	ENSP00000389383:A535V;ENSP00000295641:A546V	.	A	+	2	0	STK11IP	220181549	0.856000	0.29760	0.989000	0.46669	0.946000	0.59487	-0.014000	0.12656	0.162000	0.19483	0.561000	0.74099	GCG		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	Missense_Mutation	13	32	0	0	0	1	0	13	32					T	220473305	C	T	220473305	5	4	441	1	0	0	0	0	0	0	1	0	15287	782	27	1	1695	1	STK11IP	2	220473305	Splice_Site	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	41078564	220473305	22726068	9	37356											
MAGI1	9223	broad.mit.edu	37	chr3	65342560	65342560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccggtccttgggtcgGcatgccccgctgtcgggttt	16	14	0	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:65342560G>A	ENST00000402939.2	-	23	3881	c.3882C>T	c.(3880-3882)tgC>tgT	p.C1294C	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1323					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)	p.C1294C(2)		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)		CCTTGGGTCGGCATGCCCCGC	0.672																																						ENST00000402939.2																			2	Substitution - coding silent(2)	p.C1294C(2)	kidney(2)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3880-3882)tgC>tgT		membrane associated guanylate kinase, WW and PDZ domain containing 1							86	84	85					3																	65342560		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342560G>A	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	ENST00000402939.2:c.3882C>T	3.37:g.65342560G>A						MAGI1_ENST00000330909.8_3'UTR	p.C1294C	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3881	-		Lung NSC(201;0.0016)	1323					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000402939.2	37	c.3882C>T	CCDS33780.1																																																																																				0.672	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		4	61	0	0	0	1	0	4	61					A	65342560	G	A	65342560	2	1	441	1	0	0	0	0	0	0	0	1	9190	1195	42	2		2	MAGI1	3	65342560	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		65342560	132679870	10	37357											
RPL24	6152	broad.mit.edu	37	chr3	101401316	101401316	+	Frame_Shift_Del	DEL	T	T	-													ttttagatgcttgcttagccTtttttgcttccttagcagcc							TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:101401316delT	ENST00000394077.3	-	5	455	c.350delA	c.(349-351)aagfs	p.K117fs	RPL24_ENST00000469605.1_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	117					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGCTTAGCCTTTTTTGCTTC	0.368																																						ENST00000469605.1																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(349-351)agfs		ribosomal protein L24							110	112	111					3																	101401316		2203	4300	6503	SO:0001589	frameshift_variant	6152				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:101401316delT	AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"L ribosomal proteins"	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.350delA	3.37:g.101401316delT	ENSP00000377640:p.Lys117fs					RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron	p.K117fs			P83731	RL24_HUMAN			5	368	-			117					B2R4Y3|P38663|Q6IBS3	Frame_Shift_Del	DEL	ENST00000394077.3	37	c.350delA	CCDS33809.1																																																																																				0.368	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1	NM_000986		7	147						7	147	---	---	---	---	-	101401316	T	-	101401316	7	5	441	1	0	1	0	1	0	0	0	0	13572	1609	56	0	131	0	RPL24	3	101401316	Frame_Shift_Del	DEL	T	TCGA-S9-A7IX-01A-12D-A34A-08	36058756	101401316	96621114	11	37358											
MYLK	4638	broad.mit.edu	37	chr3	123359181	123359181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcttgatcctggtgcccGtcttgttgacacacatgatg	11	10	1	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:123359181G>A	ENST00000475616.1	-	25	4789	c.4790C>T	c.(4789-4791)aCg>aTg	p.T1597M	MYLK_ENST00000354792.5_Missense_Mutation_p.T397M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000360772.3_Missense_Mutation_p.T1597M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CCTGGTGCCCGTCTTGTTGAC	0.562																																						ENST00000360772.3																			0				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						c.(4789-4791)aCg>aTg		myosin light chain kinase							270	205	227					3																	123359181		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123359181G>A	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.4790C>T	3.37:g.123359181G>A	ENSP00000418335:p.Thr1597Met					MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000354792.5_Missense_Mutation_p.T397M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1597M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M	p.T1597M			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	29	5168	-		Lung NSC(201;0.0496)	1597			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4790C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603051	0.87157	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.55	4.68	0.58851	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	0.54565	0.1866	L	0.35644	1.08	0.50813	D	0.999893	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;0.999;0.999;1.0	T	0.58064	-0.7702	9	0.72032	D	0.01	.	14.3427	0.66639	0.0712:0.0:0.9288:0.0	.	1597;1528;1597;1528;1597	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	M	1597;1597;1597;1528;397;1597	ENSP00000354004:T1597M;ENSP00000353452:T1597M;ENSP00000352088:T1597M;ENSP00000320622:T1528M;ENSP00000346846:T397M;ENSP00000418335:T1597M	ENSP00000320622:T1528M	T	-	2	0	MYLK	124841871	1.000000	0.71417	0.894000	0.35097	0.983000	0.72400	8.061000	0.89467	1.346000	0.45694	0.557000	0.71058	ACG		0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	113	0	0	0	1	0	4	113					A	123359181	G	A	123359181	3	1	441	1	0	0	0	0	1	0	0	0	10056	1145	40	1	982	1	MYLK	3	123359181	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	21957865	123359181	74663249	12	37359											
ARPM1	84517	broad.mit.edu	37	chr3	169486095	169486095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatatgcttccacatgatctCcatgtcctcccatgaagtaa	6	12	1	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:169486095C>T	ENST00000330368.2	-	2	618	c.244G>A	c.(244-246)Gag>Aag	p.E82K	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	82						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CACATGATCTCCATGTCCTCC	0.448																																						ENST00000330368.2																			0											c.(244-246)Gag>Aag		actin-related protein T3							68	65	66					3																	169486095		2203	4300	6503	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169486095C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.244G>A	3.37:g.169486095C>T	ENSP00000333037:p.Glu82Lys						p.E82K	NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN			2	618	-			82					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.244G>A	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592772	0.66219	.	.	ENSG00000184378	ENST00000330368	D	0.97994	-4.65	4.84	4.84	0.62591	.	0.000000	0.56097	D	0.000040	D	0.98757	0.9582	M	0.85373	2.75	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99560	1.0968	10	0.87932	D	0	.	17.2429	0.87019	0.0:1.0:0.0:0.0	.	82	Q9BYD9	ARPM1_HUMAN	K	82	ENSP00000333037:E82K	ENSP00000333037:E82K	E	-	1	0	AC078802.1	170968789	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.534000	0.82004	2.687000	0.91594	0.655000	0.94253	GAG		0.448	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		13	39	0	0	0	1	0	13	39					T	169486095	C	T	169486095	3	4	441	1	0	0	0	0	1	0	0	0	976	864	30	2	878	2	ARPM1	3	169486095	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	46126914	169486095	28536335	13	37360											
UGT2B4	7363	broad.mit.edu	37	chr4	70346534	70346534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttggctcctttatggcGcatgacaaattcaatccaga	9	10	1	2	rs200320318	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr4:70346534G>A	ENST00000305107.6	-	6	1451	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	UGT2B4_ENST00000512583.1_3'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	469					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CCTTTATGGCGCATGACAAAT	0.478													g|||	2	0.000399361	0.0	0.0029	5008	,	,		16894	0.0		0.0	False		,,,				2504	0.0					ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1405-1407)Cgc>Tgc		UDP glucuronosyltransferase 2 family, polypeptide B4							131	128	129					4																	70346534		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346534G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1405C>T	4.37:g.70346534G>A	ENSP00000305221:p.Arg469Cys					UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	p.R469C	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			6	1451	-			469					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1405C>T	CCDS43234.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	9.056	0.993240	0.19043	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.72942	-0.7;-0.7	2.11	0.328	0.15918	.	0.000000	0.64402	U	0.000003	T	0.69691	0.3139	M	0.94063	3.49	0.37634	D	0.921782	B;B	0.31153	0.31;0.279	B;B	0.38156	0.266;0.159	T	0.71948	-0.4438	10	0.66056	D	0.02	.	6.0846	0.19960	0.2915:0.0:0.7085:0.0	.	333;469	A6NCP7;P06133	.;UD2B4_HUMAN	C	469;333	ENSP00000305221:R469C;ENSP00000370486:R333C	ENSP00000305221:R469C	R	-	1	0	UGT2B4	70381123	0.858000	0.29795	0.992000	0.48379	0.405000	0.30901	0.411000	0.21115	0.051000	0.15978	0.305000	0.20034	CGC		0.478	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		45	136	0	0	0	1	0	45	136					A	70346534	G	A	70346534	3	1	441	1	0	0	0	0	1	0	0	0	16958	1087	38	1	185	1	UGT2B4	4	70346534	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		70346534	120807742	14	37361											
PCDHB3	56132	broad.mit.edu	37	chr5	140482266	140482266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcccggaggcggcacCggcccaggcccaggccgact	14	19	1	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr5:140482266C>T	ENST00000231130.2	+	1	2033	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	678					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(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCACCGGCCCAGGCC	0.672																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(2032-2034)cCg>cTg									67	73	71					5																	140482266		2154	4222	6376	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482266C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2033C>T	5.37:g.140482266C>T	ENSP00000231130:p.Pro678Leu						p.P678L	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2033	+			678					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2033C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606500	0.28623	.	.	ENSG00000113205	ENST00000231130	T	0.51817	0.69	4.29	-1.54	0.08584	.	.	.	.	.	T	0.41351	0.1155	M	0.76170	2.325	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45673	-0.9245	9	0.54805	T	0.06	.	3.1527	0.06494	0.1244:0.4593:0.2571:0.1591	.	678	Q9Y5E6	PCDB3_HUMAN	L	678	ENSP00000231130:P678L	ENSP00000231130:P678L	P	+	2	0	PCDHB3	140462450	0.005000	0.15991	0.000000	0.03702	0.058000	0.15608	0.878000	0.28126	0.014000	0.14944	0.485000	0.47835	CCG		0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		45	117	0	0	0	1	0	45	117					T	140482266	C	T	140482266	3	4	441	1	0	0	0	0	1	0	0	0	11543	652	23	1	2035	1	PCDHB3	5	140482266	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		140482266	40432994	15	37362											
GRM4	2914	broad.mit.edu	37	chr6	34059820	34059820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacgcgggagaagaagtcGtagcggctgttgtcactcag	14	10	2	2	rs368672368		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:34059820G>A	ENST00000538487.2	-	3	1019	c.576C>T	c.(574-576)taC>taT	p.Y192Y	GRM4_ENST00000544773.2_Silent_p.Y23Y|GRM4_ENST00000455714.2_Silent_p.Y52Y|GRM4_ENST00000535756.1_Silent_p.Y59Y|GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000609222.1_Silent_p.Y59Y|GRM4_ENST00000374181.4_Silent_p.Y192Y	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	192					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGAAGAAGTCGTAGCGGCTGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18627	0.0		0.0	False		,,,				2504	0.001					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(574-576)taC>taT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	G		0,4406		0,0,2203	113	86	95		576	0.8	1	6		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRM4	NM_000841.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		192/913	34059820	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34059820G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.576C>T	6.37:g.34059820G>A						GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000455714.2_Silent_p.Y52Y|GRM4_ENST00000544773.1_Silent_p.Y23Y|GRM4_ENST00000538487.1_Silent_p.Y192Y|GRM4_ENST00000535756.1_Silent_p.Y59Y	p.Y192Y	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			2	745	-			192					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.576C>T	CCDS4787.1																																																																																				0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	45	0	0	0	1	0	21	45					A	34059820	G	A	34059820	2	1	441	1	0	0	0	0	0	0	0	1	6799	1140	40	1		1	GRM4	6	34059820	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		34059820	137055247	16	37363											
MED23	9439	broad.mit.edu	37	chr6	131923454	131923454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggatcactaaggaagcGtgtaaactgcggttgtacct	12	7	1	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:131923454G>A	ENST00000368068.3	-	17	2178	c.1999C>T	c.(1999-2001)Cgc>Tgc	p.R667C	MED23_ENST00000545957.1_Missense_Mutation_p.R308C|MED23_ENST00000403834.3_Missense_Mutation_p.R673C|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000354577.4_Missense_Mutation_p.R673C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	667					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)		CTAAGGAAGCGTGTAAACTGC	0.433																																						ENST00000403834.3																			0				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						c.(2017-2019)Cgc>Tgc		mediator complex subunit 23							150	131	137					6																	131923454		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131923454G>A	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.1999C>T	6.37:g.131923454G>A	ENSP00000357047:p.Arg667Cys					MED23_ENST00000368068.3_Missense_Mutation_p.R667C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000545957.1_Missense_Mutation_p.R308C|MED23_ENST00000354577.4_Missense_Mutation_p.R673C	p.R673C			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	17	2190	-	Breast(56;0.0753)		667					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.2017C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168350	0.94768	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000540350;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.65975	2.015	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;0.988;0.999;0.998	D	0.86664	0.1906	10	0.87932	D	0	0.4032	19.8316	0.96638	0.0:0.0:1.0:0.0	.	308;673;667;673	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	C	673;667;673;667;56;673;308;673;673	ENSP00000346588:R673C;ENSP00000357047:R667C;ENSP00000384536:R673C;ENSP00000357039:R667C;ENSP00000357037:R673C;ENSP00000439977:R308C;ENSP00000357032:R673C;ENSP00000437818:R673C	ENSP00000346588:R673C	R	-	1	0	MED23	131965147	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	9.869000	0.99810	2.687000	0.91594	0.563000	0.77884	CGC		0.433	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			4	105	0	0	0	1	0	4	105					A	131923454	G	A	131923454	3	1	441	1	0	0	0	0	1	0	0	0	9441	1145	40	1	2166	1	MED23	6	131923454	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	97863634	131923454	39191613	17	37364											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	6	0	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.L62R(3)		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)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.L62R(3)	lung(2)|central_nervous_system(1)	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						c.(184-186)cTt>cGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175	167	170					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		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.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R	p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		2	362	+	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)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1332	72	0	0	0	1	0	1332	72					G	55210075	T	G	55210075	3	3	441	1	0	0	0	0	1	0	0	0	4967	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08		55210075	103928588	18	37365											
FLNC	2318	broad.mit.edu	37	chr7	128470957	128470957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccgcaagttccatccgcGccccaacttccgccaaatga	7	17	0	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:128470957G>A	ENST00000325888.8	+	1	527	c.266G>A	c.(265-267)cGc>cAc	p.R89H	FLNC_ENST00000346177.6_Missense_Mutation_p.R89H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						TTCCATCCGCGCCCCAACTTC	0.652																																						ENST00000325888.8																			0				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						c.(265-267)cGc>cAc		filamin C, gamma							58	61	60					7																	128470957		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470957G>A	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.266G>A	7.37:g.128470957G>A	ENSP00000327145:p.Arg89His					FLNC_ENST00000346177.6_Missense_Mutation_p.R89H	p.R89H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			1	527	+			89			Actin-binding.|CH 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.266G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325967	0.95708	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.60548	0.18;0.18	4.49	3.59	0.41128	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.85777	2.775	0.47123	D	0.99932	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	T	0.81068	-0.1100	10	0.87932	D	0	.	13.568	0.61830	0.0:0.1573:0.8427:0.0	.	89;89	Q14315-2;Q14315	.;FLNC_HUMAN	H	89	ENSP00000327145:R89H;ENSP00000344002:R89H	ENSP00000327145:R89H	R	+	2	0	FLNC	128258193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.961000	0.87903	0.978000	0.38470	0.561000	0.74099	CGC		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			20	66	0	0	0	1	0	20	66					A	128470957	G	A	128470957	3	1	441	1	0	0	0	0	1	0	0	0	5935	1087	38	1	268	1	FLNC	7	128470957	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	73260882	128470957	30667706	19	37366											
BNC2	54796	broad.mit.edu	37	chr9	16727916	16727916	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtacaggagtctcttAaagtcaagtctcttgccctc	8	11	4	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr9:16727916A>C	ENST00000380672.4	-	3	266	c.209T>G	c.(208-210)tTa>tGa	p.L70*	BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*|RP11-62F24.2_ENST00000450445.1_RNA	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGAGTCTCTTAAAGTCAAGtc	0.483																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(208-210)tTa>tGa		basonuclin 2							224	198	207					9																	16727916		2203	4300	6503	SO:0001587	stop_gained	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16727916A>C	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.209T>G	9.37:g.16727916A>C	ENSP00000370047:p.Leu70*					BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*|BNC2_ENST00000380667.2_Intron	p.L70*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	3	266	-			70						Nonsense_Mutation	SNP	ENST00000380672.4	37	c.209T>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	36	5.735694	0.96865	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380666;ENST00000540340	.	.	.	6.06	6.06	0.98353	.	0.114484	0.38837	N	0.001554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4314	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	X	70;27;70;70;70;70	.	ENSP00000370041:L70X	L	-	2	0	BNC2	16717916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.441000	0.66569	2.315000	0.78130	0.533000	0.62120	TTA		0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		35	70	0	0	0	1	0	35	70					C	16727916	A	C	16727916	4	2	441	1	0	0	0	0	0	1	0	0	1475	372	13	5	3110	5	BNC2	9	16727916	Nonsense_Mutation	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08		16727916	124485515	20	37367											
MYOF	26509	broad.mit.edu	37	chr10	95072807	95072807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgccatctttctctgcGtagcatggccaccatccttt	9	15	2	0	rs192250227		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:95072807G>A	ENST00000359263.4	-	51	5858	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000371502.4_Silent_p.Y1943Y|MYOF_ENST00000371501.4_Silent_p.Y1953Y|MYOF_ENST00000358334.5_Silent_p.Y1940Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21475	0.001		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5857-5859)taC>taT		myoferlin							352	336	341					10																	95072807		1935	4132	6067	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072807G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5859C>T	10.37:g.95072807G>A						MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y	p.Y1953Y			Q9NZM1	MYOF_HUMAN			51	5981	-			1953					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5859C>T	CCDS41551.1																																																																																				0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		11	318	0	0	0	1	0	11	318					A	95072807	G	A	95072807	2	1	441	1	0	0	0	0	0	0	0	1	10089	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		95072807	40461940	21	37368											
TLL2	7093	broad.mit.edu	37	chr10	98129890	98129890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgtaggcttccatgtagtCgtagccgcagtcggcctcct	12	13	0	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:98129890C>T	ENST00000357947.3	-	20	3070	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	949	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCATGTAGTCGTAGCCGCAG	0.662																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2845-2847)Gac>Aac		tolloid-like 2							68	59	62					10																	98129890		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98129890C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2845G>A	10.37:g.98129890C>T	ENSP00000350630:p.Asp949Asn						p.D949N	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	20	3070	-		Colorectal(252;0.0846)	949			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2845G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225352	0.95173	.	.	ENSG00000095587	ENST00000357947	T	0.33865	1.39	4.22	4.22	0.49857	CUB (5);	0.000000	0.48286	D	0.000191	T	0.67951	0.2948	H	0.95950	3.745	0.80722	D	1	D	0.67145	0.996	P	0.59056	0.851	T	0.80420	-0.1390	10	0.62326	D	0.03	.	16.122	0.81365	0.0:1.0:0.0:0.0	.	949	Q9Y6L7	TLL2_HUMAN	N	949	ENSP00000350630:D949N	ENSP00000350630:D949N	D	-	1	0	TLL2	98119880	1.000000	0.71417	0.965000	0.40720	0.782000	0.44232	7.592000	0.82676	2.340000	0.79590	0.511000	0.50034	GAC		0.662	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			15	18	0	0	0	1	0	15	18					T	98129890	C	T	98129890	3	4	441	1	0	0	0	0	1	0	0	0	15943	884	31	1	210	1	TLL2	10	98129890	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	3057083	98129890	37404857	22	37369											
OR4D9	390199	broad.mit.edu	37	chr11	59282742	59282742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctctctctgtgatggcGtttgaccgctatatagccat	8	10	2	2	rs373390910		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr11:59282742G>A	ENST00000329328.3	+	1	357	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	119						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(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGTGATGGCGTTTGACCGCT	0.522																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(355-357)gcG>gcA		olfactory receptor, family 4, subfamily D, member 9		G		0,4402		0,0,2201	84	81	82		357	-8.3	0.9	11		82	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR4D9	NM_001004711.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		119/315	59282742	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282742G>A	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.357G>A	11.37:g.59282742G>A							p.A119A	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	357	+			119					Q6IFF3	Silent	SNP	ENST00000329328.3	37	c.357G>A	CCDS31564.1																																																																																				0.522	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		7	85	0	0	0	1	0	7	85					A	59282742	G	A	59282742	2	1	441	1	0	0	0	0	0	0	0	1	11059	1132	40	1		1	OR4D9	11	59282742	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		59282742	75723774	23	37370											
CLEC12A	160364	broad.mit.edu	37	chr12	10131592	10131592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccctctcatgtatggcGtccagcagccttgtttctga	9	13	2	1	rs185029317		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10131592G>A	ENST00000304361.4	+	2	301	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATGTATGGCGTCCAGCAGCC	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16737	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(118-120)cGt>cAt		C-type lectin domain family 12, member A							212	197	202					12																	10131592		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131592G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.119G>A	12.37:g.10131592G>A	ENSP00000302804:p.Arg40His					CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H	p.R40H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			2	301	+			40					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.119G>A	CCDS8608.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.54	1.379060	0.24944	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09073	4.47;3.02;4.48;3.93	4.58	-1.34	0.09143	.	.	.	.	.	T	0.07548	0.0190	L	0.54965	1.715	0.09310	N	1	B;B	0.29232	0.153;0.238	B;B	0.26202	0.018;0.067	T	0.31475	-0.9942	9	0.51188	T	0.08	.	3.9801	0.09492	0.4506:0.0:0.3867:0.1627	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	H	50;40;40;40	ENSP00000347916:R50H;ENSP00000379764:R40H;ENSP00000302804:R40H;ENSP00000405244:R40H	ENSP00000302804:R40H	R	+	2	0	CLEC12A	10022859	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	0.136000	0.15974	-0.391000	0.07763	-0.142000	0.14014	CGT		0.438	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		32	61	0	0	0	1	0	32	61					A	10131592	G	A	10131592	3	1	441	1	0	0	0	0	1	0	0	0	3497	1145	40	1	125	1	CLEC12A	12	10131592	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		10131592	123720303	24	37371											
TAS2R9	50835	broad.mit.edu	37	chr12	10962396	10962396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaccagagacttgaattAttggcaaatgtccagacaac	8	8	0	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10962396A>G	ENST00000240691.2	-	1	371	c.279T>C	c.(277-279)aaT>aaC	p.N93N	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	93					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACTTGAATTATTGGCAAATG	0.383																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(277-279)aaT>aaC		taste receptor, type 2, member 9							100	98	99					12																	10962396		2203	4300	6503	SO:0001819	synonymous_variant	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962396A>G	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.279T>C	12.37:g.10962396A>G							p.N93N	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	371	-			93					Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	c.279T>C	CCDS8633.1																																																																																				0.383	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			16	35	0	0	0	1	0	16	35					G	10962396	A	G	10962396	2	3	441	1	0	0	0	0	0	0	0	1	15585	446	16	3		3	TAS2R9	12	10962396	Silent	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08	830804	10962396	122889499	25	37372											
CNTN1	1272	broad.mit.edu	37	chr12	41422975	41422975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgttgtggaggttcgcgcGcacagtgatggaggagatgg	18	6	0	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2932-2934)gcG>gcA		contactin 1							231	215	221					12																	41422975		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422975G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2934G>A	12.37:g.41422975G>A						CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A	p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			23	3051	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	978			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2934G>A	CCDS8737.1																																																																																				0.458	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	163	0	0	0	1	0	4	163					A	41422975	G	A	41422975	2	1	441	1	0	0	0	0	0	0	0	1	3640	1074	38	1		1	CNTN1	12	41422975	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	30460579	41422975	92428920	26	37373											
KRT79	338785	broad.mit.edu	37	chr12	53227629	53227629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcccgctcctgagtgCgcactcgctggatctcgggg	13	15	2	1	rs140416696	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:53227629C>G	ENST00000330553.5	-	1	450	c.416G>C	c.(415-417)cGc>cCc	p.R139P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	139	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGAGTGCGCACTCGCTG	0.607																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(415-417)cGc>cCc		keratin 79							118	116	117					12																	53227629		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227629C>G	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.416G>C	12.37:g.53227629C>G	ENSP00000328358:p.Arg139Pro						p.R139P	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			1	450	-			139			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.416G>C	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451542	0.84209	.	.	ENSG00000185640	ENST00000330553	T	0.78126	-1.15	4.26	4.26	0.50523	.	0.000000	0.45126	D	0.000400	D	0.89553	0.6748	M	0.88031	2.925	0.54753	D	0.999988	D	0.89917	1.0	D	0.76575	0.988	D	0.91576	0.5275	10	0.87932	D	0	.	16.9074	0.86131	0.0:1.0:0.0:0.0	.	139	Q5XKE5	K2C79_HUMAN	P	139	ENSP00000328358:R139P	ENSP00000328358:R139P	R	-	2	0	KRT79	51513896	0.988000	0.35896	1.000000	0.80357	0.971000	0.66376	1.911000	0.39937	2.643000	0.89663	0.591000	0.81541	CGC		0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		34	96	0	0	0	1	0	34	96					G	53227629	C	G	53227629	3	3	441	1	0	0	0	0	1	0	0	0	8492	768	27	4	1227	4	KRT79	12	53227629	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	11804654	53227629	80624266	27	37374											
ANAPC5	51433	broad.mit.edu	37	chr12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttttctgtgcgatgctgAtatcgatgagctctgacagg	12	9	2	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					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)					TGCGATGCTGATATCGATGAG	0.547																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1258-1260)aTc>aCc		anaphase promoting complex subunit 5							136	106	116					12																	121766164		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121766164A>G	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.1259T>C	12.37:g.121766164A>G	ENSP00000261819:p.Ile420Thr					ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T	p.I420T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			10	1380	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		420					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1259T>C	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	A	8.805	0.933876	0.18206	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.45581	1.43	0.80722	D	1	B;B;B;B	0.30326	0.234;0.043;0.129;0.276	B;B;B;B	0.33196	0.046;0.046;0.113;0.159	T	0.51980	-0.8636	9	0.10377	T	0.69	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	86;22;308;420	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	308;407;420;86;22;308	.	ENSP00000261819:I420T	I	-	2	0	ANAPC5	120250547	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.468000	0.90393	2.279000	0.76181	0.533000	0.62120	ATC		0.547	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			10	24	0	0	0	1	0	10	24					G	121766164	A	G	121766164	3	3	441	1	0	0	0	0	1	0	0	0	605	333	12	3	1040	3	ANAPC5	12	121766164	Missense_Mutation	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08	68538535	121766164	12085731	28	37375											
BRCA2	675	broad.mit.edu	37	chr13	32914649	32914649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catataatgtggtaaattcaTctgctttctctggatttagt	7	6	3	0	rs562893642		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:32914649T>C	ENST00000380152.3	+	11	6390	c.6157T>C	c.(6157-6159)Tct>Cct	p.S2053P	BRCA2_ENST00000544455.1_Missense_Mutation_p.S2053P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2053					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|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)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTAAATTCATCTGCTTTCTC	0.348			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T|||	1	0.000199681	0.0	0.0	5008	,	,		19262	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6157-6159)Tct>Cct	Homologous recombination	breast cancer 2, early onset							65	64	64					13																	32914649		2203	4297	6500	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914649T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6157T>C	13.37:g.32914649T>C	ENSP00000369497:p.Ser2053Pro	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S2053P	p.S2053P	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6384	+		Lung SC(185;0.0262)	2053					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6157T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	6.058	0.379050	0.11466	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.75154	-0.91;-0.91	4.95	-0.595	0.11660	.	1.047120	0.07441	N	0.897339	T	0.51517	0.1679	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.19946	0.027	T	0.34675	-0.9819	10	0.37606	T	0.19	.	0.4851	0.00554	0.3282:0.2614:0.1255:0.2849	.	2053	P51587	BRCA2_HUMAN	P	2053	ENSP00000369497:S2053P;ENSP00000439902:S2053P	ENSP00000369497:S2053P	S	+	1	0	BRCA2	31812649	0.000000	0.05858	0.069000	0.20011	0.987000	0.75469	-1.301000	0.02749	-0.141000	0.11374	-0.326000	0.08463	TCT		0.348	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		21	17	0	0	0	1	0	21	17					C	32914649	T	C	32914649	3	2	441	1	0	0	0	0	1	0	0	0	1499	1435	50	3	6195	3	BRCA2	13	32914649	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08		32914649	82255229	29	37376											
TRPC4	7223	broad.mit.edu	37	chr13	38225434	38225434	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttctggctttcttcTcatctttttcttgcacaagt	4	10	5	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:38225434T>A	ENST00000379705.3	-	8	2904	c.2047A>T	c.(2047-2049)Aga>Tga	p.R683*	TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	683	Binds to ITPR1, ITPR2 and ITPR3.				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)		GGCTTTCTTCTCATCTTTTTC	0.383																																						ENST00000379705.3																			0				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						c.(2047-2049)Aga>Tga		transient receptor potential cation channel, subfamily C, member 4							142	138	140					13																	38225434		2203	4300	6503	SO:0001587	stop_gained	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225434T>A	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.2047A>T	13.37:g.38225434T>A	ENSP00000369027:p.Arg683*					TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683*	p.R683*			Q9UBN4	TRPC4_HUMAN		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)	8	2904	-			683			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	c.2047A>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	39	7.880399	0.98539	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	.	.	.	5.6	4.4	0.53042	.	0.293219	0.43919	D	0.000502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.5456	12.7388	0.57239	0.0:0.0:0.1375:0.8625	.	.	.	.	X	683;683;510;510;683;683;683	.	ENSP00000342580:R510X	R	-	1	2	TRPC4	37123434	0.907000	0.30839	1.000000	0.80357	0.985000	0.73830	0.640000	0.24705	0.942000	0.37525	0.459000	0.35465	AGA		0.383	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		28	37	0	0	0	1	0	28	37					A	38225434	T	A	38225434	4	1	441	1	0	0	0	0	0	1	0	0	16577	1559	54	5	917	5	TRPC4	13	38225434	Nonsense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	5310785	38225434	76944444	30	37377											
PGBD4	161779	broad.mit.edu	37	chr15	34394773	34394773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcattcctatgcgtgataGtaataccggtctcgaacagt	9	9	1	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:34394773G>A	ENST00000397766.2	+	1	500	c.41G>A	c.(40-42)aGt>aAt	p.S14N	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	14										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)		atgcgtgatagtaataccggt	0.348																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(40-42)aGt>aAt		piggyBac transposable element derived 4							26	28	27					15																	34394773		2198	4297	6495	SO:0001583	missense	161779							g.chr15:34394773G>A	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.41G>A	15.37:g.34394773G>A	ENSP00000380872:p.Ser14Asn						p.S14N	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	500	+		all_lung(180;1.76e-08)	14					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.41G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071842	0.20147	.	.	ENSG00000182405	ENST00000397766	T	0.18338	2.22	0.793	-1.24	0.09435	.	67.032600	0.03772	U	0.259926	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.24483	T	0.36	.	3.5922	0.07993	0.0:0.0:0.455:0.545	.	14	Q96DM1	PGBD4_HUMAN	N	14	ENSP00000380872:S14N	ENSP00000380872:S14N	S	+	2	0	PGBD4	32182065	0.088000	0.21588	0.014000	0.15608	0.316000	0.28119	-0.357000	0.07651	-0.363000	0.08101	0.305000	0.20034	AGT		0.348	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			5	5	0	0	0	1	0	5	5					A	34394773	G	A	34394773	3	1	441	1	0	0	0	0	1	0	0	0	11783	1029	36	2	43	2	PGBD4	15	34394773	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		34394773	68136619	31	37378											
CSPG4	1464	broad.mit.edu	37	chr15	75979718	75979718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggccctctagggcaaTggtcacttgtagggtggcat	15	9	2	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:75979718T>C	ENST00000308508.5	-	3	3780	c.3688A>G	c.(3688-3690)Att>Gtt	p.I1230V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1230	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTAGGGCAATGGTCACTTGT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3688-3690)Att>Gtt		chondroitin sulfate proteoglycan 4							57	58	58					15																	75979718		2196	4293	6489	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75979718T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3688A>G	15.37:g.75979718T>C	ENSP00000312506:p.Ile1230Val						p.I1230V	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3780	-			1230			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3688A>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	2.545	-0.305324	0.05495	.	.	ENSG00000173546	ENST00000308508	T	0.24723	1.84	5.39	-2.37	0.06643	.	0.366841	0.25869	N	0.027761	T	0.08088	0.0202	N	0.11651	0.15	0.30199	N	0.798786	B	0.33212	0.402	B	0.29267	0.1	T	0.43360	-0.9396	10	0.02654	T	1	.	8.3894	0.32520	0.0:0.3883:0.1081:0.5036	.	1230	Q6UVK1	CSPG4_HUMAN	V	1230	ENSP00000312506:I1230V	ENSP00000312506:I1230V	I	-	1	0	CSPG4	73766773	0.216000	0.23585	0.224000	0.23877	0.452000	0.32318	0.318000	0.19504	-0.506000	0.06558	-1.477000	0.00996	ATT		0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	91	0	0	0	1	0	5	91					C	75979718	T	C	75979718	3	2	441	1	0	0	0	0	1	0	0	0	3960	1464	51	3	3312	3	CSPG4	15	75979718	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	41584945	75979718	26551674	32	37379											
IGF1R	3480	broad.mit.edu	37	chr15	99192881	99192881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctctccgccgcgctctCgctctggccgacgagtggag	13	15	3	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:99192881C>T	ENST00000268035.6	+	1	682	c.71C>T	c.(70-72)tCg>tTg	p.S24L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L|RP11-35O15.1_ENST00000560221.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	24					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)"	GCCGCGCTCTCGCTCTGGCCG	0.622																																						ENST00000268035.6																			0				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						c.(70-72)tCg>tTg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						33	38	36					15																	99192881		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99192881C>T	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.71C>T	15.37:g.99192881C>T	ENSP00000268035:p.Ser24Leu					IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L	p.S24L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	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)		1	682	+	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)		24					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.71C>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	6.241	0.412607	0.11812	.	.	ENSG00000140443	ENST00000268035	T	0.75367	-0.93	3.76	1.73	0.24493	.	0.143555	0.30365	U	0.009785	T	0.45895	0.1365	N	0.11201	0.11	0.24466	N	0.994411	B;B	0.20780	0.048;0.0	B;B	0.09377	0.004;0.001	T	0.21042	-1.0257	10	0.10636	T	0.68	.	5.3318	0.15936	0.0:0.489:0.3685:0.1425	.	24;24	C9J5X1;P08069	.;IGF1R_HUMAN	L	24	ENSP00000268035:S24L	ENSP00000268035:S24L	S	+	2	0	IGF1R	97010404	0.999000	0.42202	0.998000	0.56505	0.797000	0.45037	0.413000	0.21148	0.545000	0.28902	-0.448000	0.05591	TCG		0.622	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		13	30	0	0	0	1	0	13	30					T	99192881	C	T	99192881	3	4	441	1	0	0	0	0	1	0	0	0	7571	893	31	1	73	1	IGF1R	15	99192881	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	23213163	99192881	3338511	33	37380											
SEC14L5	9717	broad.mit.edu	37	chr16	5055945	5055945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaatgagaacaccaggCggaagttcctcatctacagt	8	11	4	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr16:5055945C>T	ENST00000251170.7	+	12	1513	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAACACCAGGCGGAAGTTCCT	0.483																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1333-1335)Cgg>Tgg		SEC14-like 5 (S. cerevisiae)							40	43	42					16																	5055945		1928	4122	6050	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5055945C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1333C>T	16.37:g.5055945C>T	ENSP00000251170:p.Arg445Trp						p.R445W	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			12	1513	+			445			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1333C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902391	0.52227	.	.	ENSG00000103184	ENST00000251170	T	0.60920	0.15	4.06	1.97	0.26223	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.544565	0.17918	N	0.157599	T	0.63640	0.2528	L	0.55213	1.73	0.34303	D	0.684575	D	0.61080	0.989	P	0.55303	0.773	T	0.73474	-0.3971	10	0.72032	D	0.01	-7.7297	12.4035	0.55426	0.2701:0.7299:0.0:0.0	.	445	O43304	S14L5_HUMAN	W	445	ENSP00000251170:R445W	ENSP00000251170:R445W	R	+	1	2	SEC14L5	4995946	1.000000	0.71417	0.594000	0.28785	0.470000	0.32858	2.303000	0.43646	0.322000	0.23283	0.555000	0.69702	CGG		0.483	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			4	8	0	0	0	1	0	4	8					T	5055945	C	T	5055945	3	4	441	1	0	0	0	0	1	0	0	0	13985	759	27	1	1375	1	SEC14L5	16	5055945	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		5055945	85298808	34	37381											
GIT1	28964	broad.mit.edu	37	chr17	27908355	27908355	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatcaggtgggcactcaCctgtcagccatctgtgggat	14	11	4	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:27908355C>T	ENST00000225394.3	-	7	1010		c.e7+1		GIT1_ENST00000394869.3_Splice_Site|GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Splice_Site	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1						regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGGCACTCACCTGTCAGCCA	0.552																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e7+1		G protein-coupled receptor kinase interacting ArfGAP 1							104	84	91					17																	27908355		2203	4300	6503	SO:0001630	splice_region_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27908355C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.761+1G>A	17.37:g.27908355C>T						GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Splice_Site|GIT1_ENST00000394869.3_Splice_Site		NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	7	1010	-								B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Splice_Site	SNP	ENST00000225394.3	37		CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168791	0.78339	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5488	0.76129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GIT1	24932481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.750000	0.94351	0.561000	0.74099	.		0.552	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	Intron	9	33	0	0	0	1	0	9	33					T	27908355	C	T	27908355	5	4	441	1	0	0	0	0	0	0	1	0	6396	521	18	2	1610	2	GIT1	17	27908355	Splice_Site	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		27908355	53286855	35	37382											
NF1	4763	broad.mit.edu	37	chr17	29562708	29562710	+	In_Frame_Del	DEL	AAG	AAG	-													gctctggaacatgttttctaAagaagtagaattggcagact							TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:29562708_29562710delAAG	ENST00000358273.4	+	28	4171_4173	c.3788_3790delAAG	c.(3787-3792)aaagaa>aaa	p.E1264del	NF1_ENST00000356175.3_In_Frame_Del_p.E1264del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1264	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.?(4)|p.E1264K(1)	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)		ATGTTTTCTAAAGAAGTAGAATT	0.399			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	p.0?(8)|p.?(4)|p.E1264K(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	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						c.(3787-3792)aaa>a		neurofibromin 1																																				SO:0001651	inframe_deletion	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562708_29562710delAAG		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.3788_3790delAAG	17.37:g.29562711_29562713delAAG	ENSP00000351015:p.Glu1264del	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_In_Frame_Del_p.KE1263del	p.KE1263del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	28	4171_4173	+		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)	1263			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	In_Frame_Del	DEL	ENST00000358273.4	37	c.3788_3790delAAG	CCDS42292.1																																																																																				0.399	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		69	196						69	196	---	---	---	---	-	29562710	AAG	-	29562708	7	5	441	1	0	1	0	1	0	0	0	0	10356	14	1	0	3959	0	NF1	17	29562708	In_Frame_Del	DEL	AAG	TCGA-S9-A7IX-01A-12D-A34A-08	1654353	29562708	51632502	36	37383											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240560	39240560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtcagaccacctgTtgcaggaccacctgctaccg	10	15	1	1	rs200090467		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:39240560T>C	ENST00000391417.4	+	1	102	c.102T>C	c.(100-102)tgT>tgC	p.C34C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	34	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C34C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						AGACCACCTGTTGCAGGACCA	0.647																																						ENST00000391417.4																			2	Substitution - coding silent(2)	p.C34C(2)	endometrium(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(100-102)tgT>tgC		keratin associated protein 4-7							15	23	20					17																	39240560		691	1591	2282	SO:0001819	synonymous_variant	100132476							g.chr17:39240560T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.102T>C	17.37:g.39240560T>C							p.C34C	NM_033061.3	NP_149050.3					1	102	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.102T>C	CCDS45673.1																																																																																				0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	48	0	0	0	1	0	3	48					C	39240560	T	C	39240560	2	2	441	1	0	0	0	0	0	0	0	1	8555	1731	60	3		3	KRTAP4-7	17	39240560	Silent	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	9677852	39240560	41954650	37	37384											
WNK4	65266	broad.mit.edu	37	chr17	40940794	40940794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctggatggggacagcccGgaagagattgcagctgccat	15	9	1	1	rs372128794		TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:40940794G>A	ENST00000246914.5	+	11	2157	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	712					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)		GGGACAGCCCGGAAGAGATTG	0.532																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				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						c.(2134-2136)ccG>ccA		WNK lysine deficient protein kinase 4		G		1,4405	2.1+/-5.4	0,1,2202	114	89	97		2136	-8.6	0.9	17		97	0,8600		0,0,4300	no	coding-synonymous	WNK4	NM_032387.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		712/1244	40940794	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940794G>A	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.2136G>A	17.37:g.40940794G>A							p.P712P	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2157	+		Breast(137;0.000143)	712					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.2136G>A	CCDS11439.1																																																																																				0.532	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			12	39	0	0	0	1	0	12	39					A	40940794	G	A	40940794	2	1	441	1	0	0	0	0	0	0	0	1	17377	1103	39	1		1	WNK4	17	40940794	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	1700234	40940794	40254416	38	37385											
TEX14	56155	broad.mit.edu	37	chr17	56650661	56650661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacaggtcttgaatatccGtcaatgatctaaagaattaa	7	6	3	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:56650661G>A	ENST00000240361.8	-	24	3615	c.3530C>T	c.(3529-3531)aCg>aTg	p.T1177M	TEX14_ENST00000349033.5_Missense_Mutation_p.T1131M|TEX14_ENST00000389934.3_Missense_Mutation_p.T1171M			Q8IWB6	TEX14_HUMAN	testis expressed 14	1177					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)					TTGAATATCCGTCAATGATCT	0.353																																						ENST00000389934.3																			0				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						c.(3511-3513)aCg>aTg		testis expressed 14							194	192	193					17																	56650661		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56650661G>A	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.3530C>T	17.37:g.56650661G>A	ENSP00000240361:p.Thr1177Met					TEX14_ENST00000349033.5_Missense_Mutation_p.T1131M|TEX14_ENST00000240361.8_Missense_Mutation_p.T1177M	p.T1171M	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			24	3629	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1177					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3512C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021216	0.35701	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23348	1.91;1.91;1.91	5.64	-0.431	0.12295	.	0.441750	0.23265	N	0.050081	T	0.14098	0.0341	L	0.34521	1.04	0.24971	N	0.991662	P;P;P	0.41569	0.455;0.755;0.59	B;B;B	0.32533	0.056;0.147;0.12	T	0.14254	-1.0479	10	0.52906	T	0.07	0.0425	8.9621	0.35854	0.4269:0.0:0.5731:0.0	.	1177;1131;1171	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	M	1177;1171;1131	ENSP00000240361:T1177M;ENSP00000374584:T1171M;ENSP00000268910:T1131M	ENSP00000240361:T1177M	T	-	2	0	TEX14	54005660	1.000000	0.71417	0.957000	0.39632	0.882000	0.50991	0.516000	0.22817	-0.004000	0.14419	-0.266000	0.10368	ACG		0.353	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			4	167	0	0	0	1	0	4	167					A	56650661	G	A	56650661	3	1	441	1	0	0	0	0	1	0	0	0	15775	1145	40	1	1003	1	TEX14	17	56650661	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	15709867	56650661	24544549	39	37386											
KCTD1	284252	broad.mit.edu	37	chr18	24039836	24039836	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttccatctttccatctccaaCaacatgggctgaagctgaaa	6	12	2	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr18:24039836C>G	ENST00000408011.3	-	4	922	c.363G>C	c.(361-363)ttG>ttC	p.L121F	KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F|KCTD1_ENST00000417602.1_Missense_Mutation_p.L729F|KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	121					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCATCTCCAACAACATGGGCT	0.448																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2185-2187)ttG>ttC		potassium channel tetramerization domain containing 1							96	92	94					18																	24039836		2203	4298	6501	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24039836C>G	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.363G>C	18.37:g.24039836C>G	ENSP00000384367:p.Leu121Phe					KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L121F|KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F	p.L729F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		4	2186	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		121					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.2187G>C	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875215	0.51695	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.44482	0.92;0.92;0.92	5.22	3.02	0.34903	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.068413	0.64402	D	0.000013	T	0.31389	0.0795	N	0.25245	0.725	0.46798	D	0.999201	B	0.31256	0.316	B	0.41619	0.361	T	0.16630	-1.0396	10	0.56958	D	0.05	.	4.4838	0.11780	0.1517:0.5812:0.1491:0.1179	.	121	Q719H9	KCTD1_HUMAN	F	121;729;121	ENSP00000314831:L121F;ENSP00000408405:L729F;ENSP00000384367:L121F	ENSP00000314831:L121F	L	-	3	2	KCTD1	22293834	0.045000	0.20229	1.000000	0.80357	0.999000	0.98932	0.295000	0.19065	1.155000	0.42497	0.655000	0.94253	TTG		0.448	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		10	124	0	0	0	1	0	10	124					G	24039836	C	G	24039836	3	3	441	1	0	0	0	0	1	0	0	0	8096	477	17	4	418	4	KCTD1	18	24039836	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		24039836	54037412	40	37387											
FCGRT	2217	broad.mit.edu	37	chr19	50028814	50028816	+	In_Frame_Del	DEL	GAG	GAG	-													gctctgttgtggagaaggatGaggagtgggctgccaggtgg							TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr19:50028814_50028816delGAG	ENST00000221466.5	+	6	1458_1460	c.972_974delGAG	c.(970-975)atgagg>atg	p.R325del	RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000599988.1_In_Frame_Del_p.R59del|FCGRT_ENST00000596975.1_In_Frame_Del_p.R233del|FCGRT_ENST00000426395.3_In_Frame_Del_p.R325del	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	325					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)		GGAGAAGGATGAGGAGTGGGCTG	0.616																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(970-975)atg>at		Fc fragment of IgG, receptor, transporter, alpha																																				SO:0001651	inframe_deletion	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028814_50028816delGAG	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.972_974delGAG	19.37:g.50028817_50028819delGAG	ENSP00000221466:p.Arg325del					FCGRT_ENST00000426395.3_In_Frame_Del_p.MR324del|FCGRT_ENST00000599988.1_In_Frame_Del_p.MR58del|FCGRT_ENST00000596975.1_In_Frame_Del_p.MR232del	p.MR324del	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1458_1460	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	324					Q5HYM5|Q9HBV7|Q9NZ19	In_Frame_Del	DEL	ENST00000221466.5	37	c.972_974delGAG	CCDS12770.1																																																																																				0.616	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			13	24						13	24	---	---	---	---	-	50028816	GAG	-	50028814	7	5	441	1	0	1	0	1	0	0	0	0	5786	1290	45	0	990	0	FCGRT	19	50028814	In_Frame_Del	DEL	GAG	TCGA-S9-A7IX-01A-12D-A34A-08		50028814	9100169	41	37388											
RNF160	26046	broad.mit.edu	37	chr21	30354657	30354657	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgcgggtcactgagtgtatCaggtgtttcttttataagat	11	6	3	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr21:30354657C>G	ENST00000361371.5	-	5	689	c.610G>C	c.(610-612)Gat>Cat	p.D204H	LTN1_ENST00000389194.2_Missense_Mutation_p.D250H|LTN1_ENST00000389195.2_Missense_Mutation_p.D250H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	204					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						CTGAGTGTATCAGGTGTTTCT	0.383																																						ENST00000361371.4																			0				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						c.(610-612)Gat>Cat		listerin E3 ubiquitin protein ligase 1							86	86	86					21																	30354657		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30354657C>G	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.610G>C	21.37:g.30354657C>G	ENSP00000354977:p.Asp204His					LTN1_ENST00000389194.2_Missense_Mutation_p.D250H|LTN1_ENST00000389195.2_Missense_Mutation_p.D250H	p.D204H	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			5	760	-			204					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.610G>C		.	.	.	.	.	.	.	.	.	.	C	16.88	3.245177	0.59103	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.70045	3.54;3.54;-0.45	5.26	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76356	-0.2989	10	0.46703	T	0.11	.	11.9519	0.52961	0.0:0.8644:0.0:0.1355	.	204	O94822	LTN1_HUMAN	H	250;204;206;250	ENSP00000373846:D250H;ENSP00000354977:D204H;ENSP00000373847:D250H	ENSP00000354977:D204H	D	-	1	0	LTN1	29276528	0.998000	0.40836	0.449000	0.26957	0.890000	0.51754	4.067000	0.57527	0.804000	0.34136	-0.793000	0.03317	GAT		0.383	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		23	51	0	0	0	1	0	23	51					G	30354657	C	G	30354657	3	3	441	1	0	0	0	0	1	0	0	0	13455	826	29	4	4794	4	RNF160	21	30354657	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		30354657	17775238	42	37389											
KIAA2022	340533	broad.mit.edu	37	chrX	73964003	73964003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccattcagagctgacatgCctgcaggctccattatggca	9	14	1	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chrX:73964003C>A	ENST00000055682.6	-	3	1000	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	130					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						AGCTGACATGCCTGCAGGCTC	0.507																																						ENST00000373468.1																			0				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						c.(388-390)gGc>gTc		KIAA2022							92	84	87					X																	73964003		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964003C>A		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.389G>T	X.37:g.73964003C>A	ENSP00000055682:p.Gly130Val					KIAA2022_ENST00000055682.5_Missense_Mutation_p.G130V	p.G130V			Q5QGS0	K2022_HUMAN			3	1040	-			130					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.389G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283054	0.40394	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.34072	1.38;1.38	5.35	5.35	0.76521	.	0.480189	0.23836	N	0.044086	T	0.35740	0.0942	L	0.36672	1.1	0.53688	D	0.999975	P	0.49090	0.919	P	0.46110	0.504	T	0.18587	-1.0332	10	0.87932	D	0	-5.6031	13.7726	0.63036	0.0:0.8508:0.1492:0.0	.	130	Q5QGS0	K2022_HUMAN	V	130	ENSP00000362567:G130V;ENSP00000055682:G130V	ENSP00000055682:G130V	G	-	2	0	KIAA2022	73880728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.641000	0.54360	2.471000	0.83476	0.600000	0.82982	GGC		0.507	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		40	20	1	0	8.16904e-11	1	8.64957e-11	40	20					A	73964003	C	A	73964003	3	1	441	1	0	0	0	0	1	0	0	0	8269	739	26	4	4169	4	KIAA2022	23	73964003	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		73964003	81306557	43	37390											
KIAA0319L	79932	broad.mit.edu	37	chr1	35944787	35944787	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtctgtggttaggggActggaaattgtaatcgcctt	14	6	2	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:35944787A>G	ENST00000325722.3	-	4	927	c.693T>C	c.(691-693)agT>agC	p.S231S		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	231						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTTAGGGGACTGGAAATTG	0.408																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(691-693)agT>agC		KIAA0319-like							110	112	112					1																	35944787		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35944787A>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.693T>C	1.37:g.35944787A>G							p.S231S	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			4	927	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	231					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.693T>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384518	0.25031	.	.	ENSG00000142687	ENST00000431916	T	0.63255	-0.03	5.45	4.33	0.51752	.	0.256888	0.33834	N	0.004504	T	0.62768	0.2455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58679	-0.7594	7	0.34782	T	0.22	-3.6309	8.2599	0.31779	0.9094:0.0:0.0906:0.0	.	.	.	.	P	95	ENSP00000393862:S95P	ENSP00000393862:S95P	S	-	1	0	KIAA0319L	35717374	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	2.092000	0.41700	0.896000	0.36366	-0.280000	0.10049	TCC		0.408	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		33	18	0	0	0	1	0	33	18					G	35944787	A	G	35944787	2	3	442	1	0	0	0	0	0	0	0	1	8169	272	10	3		3	KIAA0319L	1	35944787	Silent	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		35944787	213305834	1	37391											
KCNQ4	9132	broad.mit.edu	37	chr1	41296926	41296926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggagcttcaatgaccGcacccgcttccgggcatctc	11	15	2	1	rs371301199		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:41296926G>A	ENST00000347132.5	+	10	1545	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	488					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TTCAATGACCGCACCCGCTTC	0.652																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1462-1464)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 4		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	43	37	39		1463,1301	5.1	1	1		39	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	KCNQ4	NM_004700.3,NM_172163.2	29,29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	488/696,434/642	41296926	1,12999	2203	4297	6500	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41296926G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1463G>A	1.37:g.41296926G>A	ENSP00000262916:p.Arg488His					KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR	p.R488H	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		10	1545	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	488					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1463G>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086971	0.94100	0.0	1.16E-4	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99762	-6.67;-6.67	5.13	5.13	0.70059	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.249579	0.40385	N	0.001119	D	0.99680	0.9880	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.981;0.999	B;D	0.65323	0.325;0.934	D	0.97541	1.0086	10	0.66056	D	0.02	-23.503	16.491	0.84201	0.0:0.0:1.0:0.0	.	434;488	P56696-2;P56696	.;KCNQ4_HUMAN	H	488;434	ENSP00000262916:R488H;ENSP00000423756:R434H	ENSP00000262916:R488H	R	+	2	0	KCNQ4	41069513	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.619000	0.98369	2.571000	0.86741	0.543000	0.68304	CGC		0.652	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		5	2	0	0	0	1	0	5	2					A	41296926	G	A	41296926	3	1	442	1	0	0	0	0	1	0	0	0	8085	1087	38	1	1501	1	KCNQ4	1	41296926	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	5352139	41296926	207953695	2	37392											
FUBP1	8880	broad.mit.edu	37	chr1	78430035	78430036	+	Frame_Shift_Ins	INS	-	-	G													ccaacagcaaatcttggaatINSggggaccttatgtaaaaaag							TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:78430035_78430036insG	ENST00000370768.2	-	11	924_925	c.843_844insC	c.(841-846)cccattfs	p.I282fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.I282fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I303fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	282	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATCTTGGAATGGGGACCTTAT	0.342			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(841-846)ccttccfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430035_78430036insG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.844dupC	1.37:g.78430039_78430039dupG	ENSP00000359804:p.Ile282fs					FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.S303fs|FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.S282fs	p.S282fs			Q96AE4	FUBP1_HUMAN			11	930_931	-			282			KH 3.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.843_844insC	CCDS683.1																																																																																				0.342	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		12	23						12	23	---	---	---	---	G	78430036	-	G	78430035	7	5	442	1	0	1	1	0	0	0	0	0	6092	1464	51	0	1130	0	FUBP1	1	78430035	Frame_Shift_Ins	INS	-	TCGA-S9-A7IY-01A-11D-A34A-08	37133109	78430035	170820586	3	37393											
OR2T35	403244	broad.mit.edu	37	chr1	248801975	248801976	+	Frame_Shift_Del	DEL	AT	AT	-													caggcatacatcagggtctcAtagagtgacgtgtctgtgca					rs537904025	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:248801975_248801976delAT	ENST00000317450.3	-	1	583_584	c.584_585delAT	c.(583-585)tatfs	p.Y195fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	195						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(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGGTCTCATAGAGTGACGT	0.5														3	0.000599042	0.0015	0.0	5008	,	,		13576	0.0		0.001	False		,,,				2504	0.0					ENST00000317450.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(583-585)tfs		olfactory receptor, family 2, subfamily T, member 35				2,3530		1,0,1765						2.9	0.9			31	26,7700		8,10,3845	no	frameshift	OR2T35	NM_001001827.1		9,10,5610	A1A1,A1R,RR		0.3365,0.0566,0.2487				28,11230				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801975_248801976delAT	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"GPCR / Class A : Olfactory receptors"	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.584_585delAT	1.37:g.248801975_248801976delAT	ENSP00000324369:p.Tyr195fs						p.Y195fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	583_584	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	195					Q6IEY7	Frame_Shift_Del	DEL	ENST00000317450.3	37	c.584_585delAT	CCDS31123.1																																																																																				0.5	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	6						3	6	---	---	---	---	-	248801976	AT	-	248801975	7	5	442	1	0	1	0	1	0	0	0	0	11026	224	8	0	390	0	OR2T35	1	248801975	Frame_Shift_Del	DEL	AT	TCGA-S9-A7IY-01A-11D-A34A-08	170371940	248801975	448646	4	37394											
IFIH1	64135	broad.mit.edu	37	chr2	163124706	163124706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaagttattagtgatgGgttattcttgtaatgcttgg	12	2	1	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:163124706G>T	ENST00000263642.2	-	14	3093	c.2698C>A	c.(2698-2700)Cca>Aca	p.P900T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	900					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTAGTGATGGGTTATTCTTG	0.363																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(2698-2700)Cca>Aca		interferon induced with helicase C domain 1							131	138	136					2																	163124706		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163124706G>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2698C>A	2.37:g.163124706G>T	ENSP00000263642:p.Pro900Thr						p.P900T	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			14	3093	-			900					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2698C>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649440	0.67358	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.31	5.31	0.75309	.	0.360073	0.32563	N	0.005937	T	0.28001	0.0690	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.01065	-1.1463	10	0.56958	D	0.05	-6.3142	18.9902	0.92788	0.0:0.0:1.0:0.0	.	900	Q9BYX4	IFIH1_HUMAN	T	900	ENSP00000263642:P900T	ENSP00000263642:P900T	P	-	1	0	IFIH1	162832952	1.000000	0.71417	0.949000	0.38748	0.450000	0.32258	8.993000	0.93524	2.486000	0.83907	0.650000	0.86243	CCA		0.363	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		21	39	1	0	2.39187e-15	1	2.95467e-15	21	39					T	163124706	G	T	163124706	3	4	442	1	0	0	0	0	1	0	0	0	7520	1232	43	4	391	4	IFIH1	2	163124706	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		163124706	80074667	5	37395											
DNAH7	56171	broad.mit.edu	37	chr2	196642630	196642630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaatgctgcgcagcgtgCgccggtcccagtcatcggtc	13	13	1	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:196642630C>T	ENST00000312428.6	-	59	11058	c.10958G>A	c.(10957-10959)cGc>cAc	p.R3653H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3653					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						GCGCAGCGTGCGCCGGTCCCA	0.473																																						ENST00000312428.6																			0				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						c.(10957-10959)cGc>cAc		dynein, axonemal, heavy chain 7							92	95	94					2																	196642630		2171	4293	6464	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196642630C>T	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.10958G>A	2.37:g.196642630C>T	ENSP00000311273:p.Arg3653His					DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H	p.R3653H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			59	11058	-			3653					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10958G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244123	0.95272	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.12984	2.63;2.63	4.98	4.98	0.66077	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71401	-0.4604	10	0.87932	D	0	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	3653	Q8WXX0	DYH7_HUMAN	H	3653;136	ENSP00000311273:R3653H;ENSP00000386912:R136H	ENSP00000311273:R3653H	R	-	2	0	DNAH7	196350875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.119000	0.77145	2.583000	0.87209	0.655000	0.94253	CGC		0.473	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		23	31	0	0	0	1	0	23	31					T	196642630	C	T	196642630	3	4	442	1	0	0	0	0	1	0	0	0	4606	768	27	1	1144	1	DNAH7	2	196642630	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	33517924	196642630	46556743	6	37396											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	54	0	0	0	1	0	32	54					T	209113112	C	T	209113112	3	4	442	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	12470482	209113112	34086261	7	37397											
GIGYF2	26058	broad.mit.edu	37	chr2	233712219	233712219	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcagcgtcagcagcagCagctgccacagcagcagcag	12	15	1	0	rs527464858	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:233712219C>T	ENST00000409547.1	+	29	3933	c.3622C>T	c.(3622-3624)Cag>Tag	p.Q1208*	GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1208	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		tcagcagcagcagctgccaca	0.572																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3688-3690)Cag>Tag		GRB10 interacting GYF protein 2							16	18	17					2																	233712219		2198	4289	6487	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233712219C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3622C>T	2.37:g.233712219C>T	ENSP00000386537:p.Gln1208*					GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208*	p.Q1230*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3885	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1208			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.3688C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302574	0.98750	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	.	.	.	5.3	5.3	0.74995	.	0.921754	0.09517	N	0.791427	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-3.325	15.6832	0.77388	0.0:1.0:0.0:0.0	.	.	.	.	X	1230;1208;1230;1208;1202;1229	.	ENSP00000362664:Q1208X	Q	+	1	0	GIGYF2	233420463	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	5.253000	0.65452	2.476000	0.83614	0.655000	0.94253	CAG		0.572	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		9	84	0	0	0	1	0	9	84					T	233712219	C	T	233712219	4	4	442	1	0	0	0	0	0	1	0	0	6378	711	25	2	3790	2	GIGYF2	2	233712219	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	24599107	233712219	9487154	8	37398											
ING5	84289	broad.mit.edu	37	chr2	242650843	242650843	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctggcgcgctttgaagcaGatctgaaggacaagatggag	14	8	1	4			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:242650843G>T	ENST00000313552.6	+	4	354	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Missense_Mutation_p.D110Y	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	110					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTTGAAGCAGATCTGAAGGA	0.393																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(328-330)Gat>Tat		inhibitor of growth family, member 5							149	164	159					2																	242650843		2203	4296	6499	SO:0001583	missense	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650843G>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.328G>T	2.37:g.242650843G>T	ENSP00000322142:p.Asp110Tyr					ING5_ENST00000406941.1_Missense_Mutation_p.D110Y|ING5_ENST00000482774.1_3'UTR	p.D110Y	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	354	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	110					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	37	c.328G>T	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795711	0.70452	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.83	5.83	0.93111	.	0.047665	0.85682	D	0.000000	T	0.77471	0.4135	M	0.67397	2.05	0.80722	D	1	D;D	0.64830	0.972;0.994	P;P	0.61201	0.736;0.885	T	0.78401	-0.2218	9	0.87932	D	0	-2.1476	20.1184	0.97949	0.0:0.0:1.0:0.0	.	110;110	Q8WYH8;B7Z6R2	ING5_HUMAN;.	Y	110	.	ENSP00000322142:D110Y	D	+	1	0	ING5	242299516	1.000000	0.71417	0.366000	0.25914	0.236000	0.25371	8.714000	0.91412	2.769000	0.95229	0.655000	0.94253	GAT		0.393	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		79	121	1	0	6.44939e-38	1	8.20832e-38	79	121					T	242650843	G	T	242650843	3	4	442	1	0	0	0	0	1	0	0	0	7739	942	33	4	342	4	ING5	2	242650843	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	8938624	242650843	548530	9	37399											
QARS	5859	broad.mit.edu	37	chr3	49141306	49141306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagactcacagcctcctcaAtctgctctggggtcacaatg	8	13	5	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr3:49141306A>G	ENST00000306125.6	-	3	702	c.365T>C	c.(364-366)aTt>aCt	p.I122T	QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.I140T			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	122					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)	AGCCTCCTCAATCTGCTCTGG	0.592																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(364-366)aTt>aCt		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						84	75	78					3																	49141306		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49141306A>G	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.365T>C	3.37:g.49141306A>G	ENSP00000307567:p.Ile122Thr					QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000420147.2_Missense_Mutation_p.I140T	p.I122T			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	702	-			122					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.365T>C	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.971910	0.92919	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.30981	1.63;1.51	5.91	5.91	0.95273	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57169	0.2035	M	0.76433	2.335	0.80722	D	1	D;P;P	0.89917	1.0;0.478;0.478	D;B;B	0.79784	0.993;0.156;0.156	T	0.60454	-0.7260	10	0.66056	D	0.02	-14.6	16.3483	0.83171	1.0:0.0:0.0:0.0	.	140;111;122	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	T	122;111;140;164;122	ENSP00000307567:I122T;ENSP00000390015:I111T	ENSP00000307567:I122T	I	-	2	0	QARS	49116310	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.156000	0.77453	2.254000	0.74563	0.533000	0.62120	ATT		0.592	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		7	29	0	0	0	1	0	7	29					G	49141306	A	G	49141306	3	3	442	1	0	0	0	0	1	0	0	0	12871	101	4	3	2050	3	QARS	3	49141306	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		49141306	148881124	10	37400											
MFSD10	10227	broad.mit.edu	37	chr4	2933825	2933825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgagaagcgcagcaggGccagggggctgagcagatca	17	11	1	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr4:2933825G>A	ENST00000329687.4	-	6	1283	c.749C>T	c.(748-750)gCc>gTc	p.A250V	MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	250					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAGCAGGGCCAGGGGGCT	0.672																																						ENST00000329687.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(748-750)gCc>gTc		major facilitator superfamily domain containing 10							25	25	25					4																	2933825		2198	4296	6494	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2933825G>A	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.749C>T	4.37:g.2933825G>A	ENSP00000332646:p.Ala250Val					MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V	p.A250V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	1283	-			250					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.749C>T	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480010	0.63849	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	4.91	4.07	0.47477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.112475	0.64402	D	0.000013	D	0.87720	0.6248	M	0.79475	2.455	0.54753	D	0.999989	D;D;D;D	0.69078	0.997;0.997;0.992;0.997	D;D;D;D	0.70935	0.971;0.971;0.928;0.971	D	0.86165	0.1596	10	0.33141	T	0.24	-4.084	11.9288	0.52835	0.0861:0.0:0.9139:0.0	.	250;250;250;250	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	V	250	ENSP00000426907:A250V;ENSP00000347619:A250V;ENSP00000332646:A250V;ENSP00000425757:A250V;ENSP00000423402:A250V	ENSP00000332646:A250V	A	-	2	0	MFSD10	2903623	1.000000	0.71417	0.999000	0.59377	0.060000	0.15804	4.543000	0.60684	1.073000	0.40885	-0.154000	0.13518	GCC		0.672	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		6	12	0	0	0	1	0	6	12					A	2933825	G	A	2933825	3	1	442	1	0	0	0	0	1	0	0	0	9528	1203	42	2	646	2	MFSD10	4	2933825	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		2933825	188220451	11	37401											
NIPBL	25836	broad.mit.edu	37	chr5	37026330	37026330	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaaatttctcttccttctaGaaattagtaaatgaaacatt	4	6	2	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:37026330G>A	ENST00000282516.8	+	31	6208		c.e31-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						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)			CTTCCTTCTAGAAATTAGTAA	0.313																																						ENST00000282516.8																			0				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						c.e31-1		Nipped-B homolog (Drosophila)							33	33	33					5																	37026330		2203	4300	6503	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37026330G>A	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.5710-1G>A	5.37:g.37026330G>A						NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		31	6208	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806962	0.90623	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37062087	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.444000	0.97578	2.885000	0.99019	0.655000	0.94253	.		0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	13	24	0	0	0	1	0	13	24					A	37026330	G	A	37026330	5	1	442	1	0	0	0	0	0	0	1	0	10428	956	33	2	5827	2	NIPBL	5	37026330	Splice_Site	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		37026330	143888930	12	37402											
PIK3R1	5295	broad.mit.edu	37	chr5	67591129	67591130	+	Frame_Shift_Del	DEL	AA	AA	-													ccagaccttatccagctgagAaagacgagagaccaatactt							TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:67591129_67591130delAA	ENST00000521381.1	+	13	2338_2339	c.1722_1723delAA	c.(1720-1725)agaaagfs	p.K575fs	PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.K212fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.K275fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.K305fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.K575fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	575					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.R574fs*27(1)|p.L570_D578del(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)	TCCAGCTGAGAAAGACGAGAGA	0.376			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		6	Deletion - In frame(3)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.R574_T576del(2)|p.R574fs*27(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)	endometrium(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(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						c.(1720-1725)agagfs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591129_67591130delAA	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.1722_1723delAA	5.37:g.67591129_67591130delAA	ENSP00000428056:p.Lys575fs	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.RK304fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.RK211fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.RK274fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.RK574fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.RK574fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.RK574fs	p.RK574fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2338_2339	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	574					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.1722_1723delAA	CCDS3993.1																																																																																				0.376	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		10	81						10	81	---	---	---	---	-	67591130	AA	-	67591129	7	5	442	1	0	1	0	1	0	0	0	0	11918	243	9	0	1898	0	PIK3R1	5	67591129	Frame_Shift_Del	DEL	AA	TCGA-S9-A7IY-01A-11D-A34A-08	30564799	67591129	113324131	13	37403											
SLC35A4	113829	broad.mit.edu	37	chr5	139947214	139947214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgatggctgcgggaGcctgctatgcagcagggggc	18	10	0	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:139947214G>T	ENST00000514199.1	+	2	2146	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	154	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCGGGAGCCTGCTATGC	0.637																																						ENST00000514199.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(460-462)Gcc>Tcc		solute carrier family 35, member A4							37	37	37					5																	139947214		2203	4300	6503	SO:0001583	missense	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947214G>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.460G>T	5.37:g.139947214G>T	ENSP00000424566:p.Ala154Ser					SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S|APBB3_ENST00000507279.1_Intron	p.A154S			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2146	+			154			Leu-rich.		A8K013	Missense_Mutation	SNP	ENST00000514199.1	37	c.460G>T	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	5.819	0.335368	0.11013	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	T;T	0.70869	-0.52;-0.52	4.86	3.99	0.46301	.	0.225836	0.36555	N	0.002534	T	0.63861	0.2547	L	0.47716	1.5	0.30649	N	0.755672	B	0.18013	0.025	B	0.27887	0.084	T	0.60801	-0.7191	9	.	.	.	-13.2984	12.6626	0.56822	0.0805:0.0:0.9195:0.0	.	154	Q96G79	S35A4_HUMAN	S	154	ENSP00000327133:A154S;ENSP00000424566:A154S	.	A	+	1	0	SLC35A4	139927398	1.000000	0.71417	0.997000	0.53966	0.114000	0.19823	3.632000	0.54287	1.277000	0.44412	0.407000	0.27541	GCC		0.637	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		5	46	1	0	0.000602214	1	0.000616903	5	46					T	139947214	G	T	139947214	3	4	442	1	0	0	0	0	1	0	0	0	14573	971	34	4	462	4	SLC35A4	5	139947214	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	72356085	139947214	40968046	14	37404											
ENPP1	5167	broad.mit.edu	37	chr6	132194118	132194118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacatttcttacctaagcGtttgcactttgctaagagtg	8	8	1	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:132194118G>A	ENST00000360971.2	+	15	1513	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	498	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)	TTACCTAAGCGTTTGCACTTT	0.408																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				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						c.(1492-1494)cGt>cAt		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						184	181	182					6																	132194118		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132194118G>A	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.1493G>A	6.37:g.132194118G>A	ENSP00000354238:p.Arg498His						p.R498H	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	15	1513	+	Breast(56;0.0505)		498			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1493G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493444	0.84962	.	.	ENSG00000197594	ENST00000360971	T	0.78364	-1.17	5.21	4.32	0.51571	Alkaline-phosphatase-like, core domain (1);	0.108634	0.64402	D	0.000008	D	0.86439	0.5933	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89179	0.3542	10	0.72032	D	0.01	-17.0976	15.1846	0.72989	0.0:0.0:0.8577:0.1423	.	498;128	P22413;Q7Z3P5	ENPP1_HUMAN;.	H	498	ENSP00000354238:R498H	ENSP00000354238:R498H	R	+	2	0	ENPP1	132235811	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.717000	0.91425	1.281000	0.44480	0.591000	0.81541	CGT		0.408	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			71	101	0	0	0	1	0	71	101					A	132194118	G	A	132194118	3	1	442	1	0	0	0	0	1	0	0	0	5129	1145	40	1	1551	1	ENPP1	6	132194118	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		132194118	38920949	15	37405											
SYNE1	23345	broad.mit.edu	37	chr6	152690656	152690656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatcatagaggcgatTgctgctttcatggaccatct	11	9	3	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:152690656T>C	ENST00000367255.5	-	60	10202	c.9601A>G	c.(9601-9603)Aat>Gat	p.N3201D	SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3201					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)		TAGAGGCGATTGCTGCTTTCA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(9601-9603)Aat>Gat		spectrin repeat containing, nuclear envelope 1							143	124	130					6																	152690656		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152690656T>C	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.9601A>G	6.37:g.152690656T>C	ENSP00000356224:p.Asn3201Asp	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D	p.N3201D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	60	10202	-		Ovarian(120;0.0955)	3201					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9601A>G	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.256|8.256	0.810021|0.810021	0.16537|0.16537	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000469439	T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58|.	5.52|5.52	1.69|1.69	0.24217|0.24217	.|.	0.449819|.	0.22328|.	N|.	0.061515|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.36183|.	0.121;0.542;0.121;0.163|.	B;B;B;B|.	0.39771|.	0.122;0.309;0.122;0.075|.	T|T	0.04915|0.04915	-1.0918|-1.0918	10|5	0.12766|.	T|.	0.61|.	.|.	6.6638|6.6638	0.23029|0.23029	0.0:0.137:0.1294:0.7336|0.0:0.137:0.1294:0.7336	.|.	3201;318;3201;3208|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	D|R	3201;3208;3201;3208;3240|65	ENSP00000356224:N3201D;ENSP00000396024:N3208D;ENSP00000265368:N3201D;ENSP00000390975:N3208D;ENSP00000341887:N3240D|.	ENSP00000265368:N3201D|.	N|Q	-|-	1|2	0|0	SYNE1|SYNE1	152732349|152732349	0.697000|0.697000	0.27767|0.27767	0.375000|0.375000	0.26029|0.26029	0.472000|0.472000	0.32918|0.32918	0.990000|0.990000	0.29642|0.29642	0.056000|0.056000	0.16144|0.16144	0.450000|0.450000	0.29827|0.29827	AAT|CAA		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	58	0	0	0	1	0	8	58					C	152690656	T	C	152690656	3	2	442	1	0	0	0	0	1	0	0	0	15442	1812	63	3	17213	3	SYNE1	6	152690656	Missense_Mutation	SNP	T	TCGA-S9-A7IY-01A-11D-A34A-08	20496538	152690656	18424411	16	37406											
PDIA4	9601	broad.mit.edu	37	chr7	148709068	148709068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccttggagggaggcccGgactgctcgatcatgtaatc	12	11	2	0	rs534122693	byFrequency	TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr7:148709068G>A	ENST00000286091.4	-	6	1081	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	283	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGGGAGGCCCGGACTGCTCGA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		17913	0.0		0.0	False		,,,				2504	0.002					ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(847-849)tcC>tcT		protein disulfide isomerase family A, member 4							78	73	75					7																	148709068		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148709068G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.849C>T	7.37:g.148709068G>A							p.S283S	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		6	1081	-	Melanoma(164;0.15)		283			Thioredoxin 2.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.849C>T	CCDS5893.1																																																																																				0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		4	60	0	0	0	1	0	4	60					A	148709068	G	A	148709068	2	1	442	1	0	0	0	0	0	0	0	1	11670	1103	39	1		1	PDIA4	7	148709068	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		148709068	10429595	17	37407											
KIAA1529	100499483	broad.mit.edu	37	chr9	100117175	100117175	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttatctctctgtacaggCcaatgatgtcatcaacaagt	6	11	4	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr9:100117175C>A	ENST00000357054.1	+	35	4129	c.3194C>A	c.(3193-3195)gCc>gAc	p.A1065D	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Splice_Site_p.A1094D|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Splice_Site_p.A1094D			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1065						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCTGTACAGGCCAATGATGTC	0.463																																						ENST00000375202.2																			0											c.e38-1		coiled-coil domain containing 180							77	77	77					9																	100117175		2203	4300	6503	SO:0001630	splice_region_variant	100499483							g.chr9:100117175C>A	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.3193-1C>A	9.37:g.100117175C>A						CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Splice_Site_p.A1065_splice|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Splice_Site_p.A1094_splice	p.A1094_splice							38	4633	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Splice_Site	SNP	ENST00000357054.1	37	c.3279_splice		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971473	0.74246	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.13901	2.84;2.55;2.55	4.94	4.94	0.65067	.	0.292508	0.34223	N	0.004152	T	0.34832	0.0911	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.01319	-1.1386	10	0.27082	T	0.32	-16.5234	16.475	0.84130	0.0:1.0:0.0:0.0	.	1233;1065	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	D	1065;1094;1094	ENSP00000349562:A1065D;ENSP00000364348:A1094D;ENSP00000434727:A1094D	ENSP00000349562:A1065D	A	+	2	0	C9orf174	99156996	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.740000	0.68629	2.669000	0.90835	0.655000	0.94253	GCC		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Missense_Mutation	10	66	1	0	6.40141e-05	1	7.07524e-05	10	66					A	100117175	C	A	100117175	5	1	442	1	0	0	0	0	0	0	1	0	8240	753	26	4	3288	4	KIAA1529	9	100117175	Splice_Site	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		100117175	41096256	18	37408											
DNMBP	23268	broad.mit.edu	37	chr10	101715654	101715654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagcccttgggcttgcggaCcaggcttcatctccaatctc	9	15	3	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:101715654C>A	ENST00000324109.4	-	4	1668	c.1577G>T	c.(1576-1578)gGt>gTt	p.G526V	DNMBP_ENST00000342239.3_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	526					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)		GGCTTGCGGACCAGGCTTCAT	0.498																																						ENST00000342239.3																			0				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						c.(1576-1578)gGt>gTt		dynamin binding protein							111	105	107					10																	101715654		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715654C>A	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.1577G>T	10.37:g.101715654C>A	ENSP00000315659:p.Gly526Val					DNMBP_ENST00000324109.4_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA	p.G526V			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1668	-		Colorectal(252;0.234)	526					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1577G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058199	0.36277	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12147	2.77;2.71	5.92	-1.14	0.09741	.	0.551479	0.16577	N	0.208371	T	0.11495	0.0280	M	0.66939	2.045	0.09310	N	1	P	0.35383	0.498	B	0.30572	0.117	T	0.13602	-1.0503	10	0.44086	T	0.13	-0.6552	5.6347	0.17530	0.1072:0.3518:0.4182:0.1229	.	526	Q6XZF7	DNMBP_HUMAN	V	526	ENSP00000344914:G526V;ENSP00000315659:G526V	ENSP00000315659:G526V	G	-	2	0	DNMBP	101705644	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	0.453000	0.21811	0.070000	0.16634	-0.305000	0.09177	GGT		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		20	104	1	0	1.00905e-13	1	1.21086e-13	20	104					A	101715654	C	A	101715654	3	1	442	1	0	0	0	0	1	0	0	0	4674	507	18	4	3212	4	DNMBP	10	101715654	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		101715654	33819093	19	37409											
FANK1	92565	broad.mit.edu	37	chr10	127693465	127693465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtctaatgctggcGtgctatgcgggacacctaga	13	9	1	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:127693465G>A	ENST00000368693.1	+	7	656	c.552G>A	c.(550-552)gcG>gcA	p.A184A	FANK1_ENST00000368695.1_Silent_p.A178A|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TAATGCTGGCGTGCTATGCGG	0.507																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(532-534)gcG>gcA		fibronectin type III and ankyrin repeat domains 1							145	135	138					10																	127693465		2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127693465G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.552G>A	10.37:g.127693465G>A						FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Silent_p.A184A	p.A178A	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	656	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	184					Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.534G>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	6.605	0.480034	0.12581	.	.	ENSG00000203780	ENST00000456942	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75408	-0.3328	4	.	.	.	-27.7352	15.0886	0.72174	0.6039:0.3131:0.083:0.0	.	.	.	.	H	79	.	.	R	+	2	0	FANK1	127683455	0.000000	0.05858	0.016000	0.15963	0.706000	0.40770	-4.856000	0.00177	-3.482000	0.00155	-0.302000	0.09304	CGT		0.507	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	81	0	0	0	1	0	6	81					A	127693465	G	A	127693465	2	1	442	1	0	0	0	0	0	0	0	1	5672	1132	40	1		1	FANK1	10	127693465	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	25977811	127693465	7841282	20	37410											
CCND1	595	broad.mit.edu	37	chr11	69465934	69465934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagccctgctggagtcaAgcctgcgccaggcccagcag	13	15	1	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr11:69465934A>G	ENST00000227507.2	+	5	999	c.772A>G	c.(772-774)Agc>Ggc	p.S258G	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	258					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-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)		Arsenic trioxide(DB01169)	GCTGGAGTCAAGCCTGCGCCA	0.667			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"L, E"	"IGH@, FSTL3"		"CLL, B-ALL, breast"		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(772-774)Agc>Ggc		cyclin D1	Arsenic trioxide(DB01169)						36	31	33					11																	69465934		2200	4294	6494	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69465934A>G	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.772A>G	11.37:g.69465934A>G	ENSP00000227507:p.Ser258Gly	Multiple Myeloma(6;0.086)					p.S258G	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-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)		5	999	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		258					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.772A>G	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871059	0.91587	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.23147	1.92	5.15	5.15	0.70609	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	M	0.79258	2.445	0.80722	D	1	B	0.30281	0.275	B	0.31686	0.134	T	0.13282	-1.0515	10	0.38643	T	0.18	.	14.9917	0.71393	1.0:0.0:0.0:0.0	.	258	P24385	CCND1_HUMAN	G	258;124	ENSP00000227507:S258G	ENSP00000227507:S258G	S	+	1	0	CCND1	69175115	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.556000	0.90697	1.947000	0.56498	0.459000	0.35465	AGC		0.667	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		14	16	0	0	0	1	0	14	16					G	69465934	A	G	69465934	3	3	442	1	0	0	0	0	1	0	0	0	2916	72	3	3	790	3	CCND1	11	69465934	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		69465934	65540582	21	37411											
PRMT8	56341	broad.mit.edu	37	chr12	3701451	3701451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttctacttggaagattAcctcactgtccggagggggg	13	10	3	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:3701451A>G	ENST00000382622.3	+	9	1424	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	345	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)			TTGGAAGATTACCTCACTGTC	0.532																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1033-1035)tAc>tGc		protein arginine methyltransferase 8							151	151	151					12																	3701451		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701451A>G	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.1034A>G	12.37:g.3701451A>G	ENSP00000372067:p.Tyr345Cys					PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C|PRMT8_ENST00000261252.4_3'UTR	p.Y345C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1424	+			345					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1034A>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100689	0.37048	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78364	-1.17;-1.17	5.24	4.1	0.47936	.	0.054259	0.85682	N	0.000000	T	0.74068	0.3668	M	0.71036	2.16	0.58432	D	0.999999	B;B	0.15141	0.009;0.012	B;B	0.19148	0.024;0.016	T	0.68292	-0.5447	10	0.39692	T	0.17	.	9.1713	0.37083	0.9128:0.0:0.0872:0.0	.	336;345	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	C	336;345	ENSP00000414507:Y336C;ENSP00000372067:Y345C	ENSP00000372067:Y345C	Y	+	2	0	PRMT8	3571712	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.264000	0.65513	0.831000	0.34780	0.459000	0.35465	TAC		0.532	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		39	72	0	0	0	1	0	39	72					G	3701451	A	G	3701451	3	3	442	1	0	0	0	0	1	0	0	0	12542	391	14	3	1068	3	PRMT8	12	3701451	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		3701451	130150444	22	37412											
MYO1H	283446	broad.mit.edu	37	chr12	109826586	109826586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattttgtgctattggacgcGtacaccagcgaatctgcctt	10	10	1	0	rs548292658		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:109826586G>A	ENST00000431443.2	+	1	63	c.63G>A	c.(61-63)gcG>gcA	p.A21A	MYO1H_ENST00000310903.5_Silent_p.A21A	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	21	Myosin motor.					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						TATTGGACGCGTACACCAGCG	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.0					ENST00000310903.5																			0				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						c.(61-63)gcG>gcA		myosin IH							226	232	230					12																	109826586		2105	4236	6341	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109826586G>A		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.63G>A	12.37:g.109826586G>A						MYO1H_ENST00000431443.2_Silent_p.A21A	p.A21A			B4DNW6	B4DNW6_HUMAN			2	169	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.63G>A																																																																																					0.532	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	208	0	0	0	1	0	4	208					A	109826586	G	A	109826586	2	1	442	1	0	0	0	0	0	0	0	1	10075	1132	40	1		1	MYO1H	12	109826586	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	106125135	109826586	24025309	23	37413											
ATP4B	496	broad.mit.edu	37	chr13	114312443	114312443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggccacacgtcttcttcTcctgcagagccgccatcgtc	9	17	3	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr13:114312443T>A	ENST00000335288.4	-	1	58	c.17A>T	c.(16-18)gAg>gTg	p.E6V		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	6					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	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;0.171)			CGTCTTCTTCTCCTGCAGAGC	0.642																																						ENST00000335288.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(16-18)gAg>gTg		ATPase, H+/K+ exchanging, beta polypeptide	Rabeprazole(DB01129)						40	38	39					13																	114312443		2203	4299	6502	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114312443T>A		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"ATPases / P-type"	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.17A>T	13.37:g.114312443T>A	ENSP00000334216:p.Glu6Val						p.E6V	NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	all cancers(43;0.171)		1	58	-	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)	6					B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.17A>T	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939892	0.52972	.	.	ENSG00000186009	ENST00000335288	T	0.33438	1.41	4.41	4.41	0.53225	.	0.066683	0.56097	D	0.000034	T	0.53465	0.1798	M	0.73598	2.24	0.46749	D	0.999181	D	0.76494	0.999	D	0.72075	0.976	T	0.57820	-0.7745	10	0.59425	D	0.04	-48.4716	12.7865	0.57510	0.0:0.0:0.0:1.0	.	6	P51164	ATP4B_HUMAN	V	6	ENSP00000334216:E6V	ENSP00000334216:E6V	E	-	2	0	ATP4B	113360444	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	6.060000	0.71141	1.838000	0.53458	0.454000	0.30748	GAG		0.642	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		5	29	0	0	0	1	0	5	29					A	114312443	T	A	114312443	3	1	442	1	0	0	0	0	1	0	0	0	1146	1551	54	5	886	5	ATP4B	13	114312443	Missense_Mutation	SNP	T	TCGA-S9-A7IY-01A-11D-A34A-08		114312443	857435	24	37414											
CNOT1	23019	broad.mit.edu	37	chr16	58589321	58589322	+	Frame_Shift_Ins	INS	-	-	T													caggctgttatatgtaactcINStttatcaggatactggggaa							TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr16:58589321_58589322insT	ENST00000317147.5	-	21	3056_3057	c.2724_2725insA	c.(2722-2727)aaagagfs	p.E909fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.E904fs|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.E909fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	909	Interaction with ZFP36.				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)		ATATGTAACTCTTTATCAGGAT	0.376																																						ENST00000317147.5																			0				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						c.(2722-2727)aaagttfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589321_58589322insT	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.2725dupA	16.37:g.58589324_58589324dupT	ENSP00000320949:p.Glu909fs					CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.V904fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.V909fs	p.V909fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3056_3057	-			909					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	ENST00000317147.5	37	c.2724_2725insA	CCDS10799.1																																																																																				0.376	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		36	130						36	130	---	---	---	---	T	58589322	-	T	58589321	7	5	442	1	0	1	1	0	0	0	0	0	3617	922	32	0	4743	0	CNOT1	16	58589321	Frame_Shift_Ins	INS	-	TCGA-S9-A7IY-01A-11D-A34A-08		58589321	31765432	25	37415											
ADORA2B	136	broad.mit.edu	37	chr17	15878191	15878191	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctttgagaatgtggtcccCatgagctacatggtatattt	9	8	1	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:15878191C>G	ENST00000304222.2	+	2	866	c.534C>G	c.(532-534)ccC>ccG	p.P178P	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	178	Agonist binding. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	ATGTGGTCCCCATGAGCTACA	0.478																																						ENST00000304222.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9						c.(532-534)ccC>ccG		adenosine A2b receptor	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)						150	143	145					17																	15878191		2203	4300	6503	SO:0001819	synonymous_variant	136				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane		g.chr17:15878191C>G	M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"GPCR / Class A : Adenosine receptors"	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.534C>G	17.37:g.15878191C>G							p.P178P	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	2	866	+			178			Agonist binding (By similarity).			Silent	SNP	ENST00000304222.2	37	c.534C>G	CCDS11173.1																																																																																				0.478	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			21	30	0	0	0	1	0	21	30					G	15878191	C	G	15878191	2	3	442	1	0	0	0	0	0	0	0	1	328	581	21	4		4	ADORA2B	17	15878191	Silent	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		15878191	65317019	26	37416											
TUBD1	51174	broad.mit.edu	37	chr17	57968233	57968233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatctttctttgcaagatGcttgatatgcctcattctct	6	9	4	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:57968233G>T	ENST00000592426.1	-	1	131	c.131C>A	c.(130-132)gCa>gAa	p.A44E	TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000325752.3_Missense_Mutation_p.A44E|TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|RPS6KB1_ENST00000393021.3_5'Flank|RPS6KB1_ENST00000225577.4_5'Flank|RPS6KB1_ENST00000443572.2_5'Flank|RPS6KB1_ENST00000406116.3_5'Flank|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E			Q9UJT1	TBD_HUMAN	tubulin, delta 1	44					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)	TTTGCAAGATGCTTGATATGC	0.458																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(130-132)gCa>gAa		tubulin, delta 1							200	190	193					17																	57968233		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57968233G>T	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.131C>A	17.37:g.57968233G>T	ENSP00000468518:p.Ala44Glu					TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E|TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E	p.A44E	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		2	408	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		44					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.131C>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147796	0.21288	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.74	3.62	0.41486	Tubulin/FtsZ, GTPase domain (3);	0.375992	0.31041	N	0.008372	T	0.42877	0.1222	N	0.04116	-0.275	0.28232	N	0.926075	B;B;B;B;B	0.14012	0.001;0.001;0.001;0.0;0.009	B;B;B;B;B	0.15870	0.014;0.004;0.004;0.009;0.006	T	0.45629	-0.9248	10	0.72032	D	0.01	-9.9662	10.2056	0.43112	0.0714:0.0:0.7291:0.1994	.	44;44;44;44;44	E9PCA7;Q9UJT1-3;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	E	44	ENSP00000320797:A44E;ENSP00000342399:A44E;ENSP00000342561:A44E;ENSP00000377785:A44E;ENSP00000365262:A44E	ENSP00000320797:A44E	A	-	2	0	TUBD1	55323015	0.676000	0.27567	1.000000	0.80357	0.986000	0.74619	1.557000	0.36299	1.572000	0.49736	0.650000	0.86243	GCA		0.458	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		4	125	1	0	0.00116845	1	0.00116845	4	125					T	57968233	G	T	57968233	3	4	442	1	0	0	0	0	1	0	0	0	16759	1319	46	4	1262	4	TUBD1	17	57968233	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	42090042	57968233	23226977	27	37417											
EPB41L3	23136	broad.mit.edu	37	chr18	5410585	5410585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtggcagtggtctcccCgtcggctgcggtgtccgtgc	15	14	2	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr18:5410585C>T	ENST00000341928.2	-	14	2441	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000427684.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	701	Spectrin--actin-binding. {ECO:0000255}.				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						GTGGTCTCCCCGTCGGCTGCG	0.537																																						ENST00000341928.2																			0				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						c.(2101-2103)Ggg>Agg		erythrocyte membrane protein band 4.1-like 3							100	66	77					18																	5410585		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5410585C>T	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.2101G>A	18.37:g.5410585C>T	ENSP00000343158:p.Gly701Arg					EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R	p.G701R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			14	2441	-			701			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2101G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751858	0.89753	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.84370	-1.64;-1.84;-1.64;-1.74	5.34	5.34	0.76211	.	0.055885	0.64402	D	0.000001	D	0.87771	0.6261	N	0.19112	0.55	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;0.996;0.999;1.0;1.0	D	0.89858	0.4014	10	0.87932	D	0	.	19.0337	0.92969	0.0:1.0:0.0:0.0	.	532;93;423;532;701	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	R	701;423;532;423;701;532	ENSP00000343158:G701R;ENSP00000441174:G532R;ENSP00000341138:G701R;ENSP00000382981:G532R	ENSP00000343158:G701R	G	-	1	0	EPB41L3	5400585	1.000000	0.71417	0.918000	0.36340	0.912000	0.54170	7.231000	0.78106	2.500000	0.84329	0.591000	0.81541	GGG		0.537	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		8	26	0	0	0	1	0	8	26					T	5410585	C	T	5410585	3	4	442	1	0	0	0	0	1	0	0	0	5154	652	23	1	1198	1	EPB41L3	18	5410585	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		5410585	72666663	28	37418											
CDC34	997	broad.mit.edu	37	chr19	535886	535886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactctccaccagcctttcGgttcctgaccaagatgtggc	8	14	1	2	rs375521090		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		CCAGCCTTTCGGTTCCTGACC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17007	0.001		0.0	False		,,,				2504	0.0					ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(226-228)cGg>cAg		cell division cycle 34		G	GLN/ARG	0,4406		0,0,2203	263	260	261		227	5.1	0.2	19		261	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC34	NM_004359.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	76/237	535886	1,13005	2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:535886G>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"Ubiquitin-conjugating enzymes E2"	1734	protein-coding gene	gene with protein product		116948	"cell division cycle 34", "cell division cycle 34 homolog (S. cerevisiae)"			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.227G>A	19.37:g.535886G>A	ENSP00000215574:p.Arg76Gln						p.R76Q	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		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)	2	445	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)	76					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.227G>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	CDC34	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		35	324	0	0	0	1	0	35	324					A	535886	G	A	535886	3	1	442	1	0	0	0	0	1	0	0	0	3067	1116	39	1	233	1	CDC34	19	535886	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		535886	58593097	29	37419											
CD97	976	broad.mit.edu	37	chr19	14499539	14499539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtggtgccctcagaaCtcctcgtgtgtcaatgccac	11	15	2	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GCCCTCAGAACTCCTCGTGTG	0.587																																						ENST00000242786.5																			0				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						c.(97-99)aaC>aaT		CD97 molecule							131	134	133					19																	14499539		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14499539C>T		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.99C>T	19.37:g.14499539C>T						CD97_ENST00000587728.1_3'UTR|CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000357355.3_Silent_p.N33N	p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			3	179	+			33			EGF-like 1.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.99C>T	CCDS32929.1																																																																																				0.587	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		5	171	0	0	0	1	0	5	171					T	14499539	C	T	14499539	2	4	442	1	0	0	0	0	0	0	0	1	3049	564	20	2		2	CD97	19	14499539	Silent	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	13963653	14499539	44629444	30	37420											
CIC	23152	broad.mit.edu	37	chr19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggggcccaaggagaagCagaagtaccacgacctggcc	13	14	0	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42791853C>T	ENST00000575354.2	+	5	779	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1156*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247					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)				CAAGGAGAAGCAGAAGTACCA	0.632			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3466-3468)Cag>Tag		capicua transcriptional repressor							80	72	75					19																	42791853		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791853C>T	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.739C>T	19.37:g.42791853C>T	ENSP00000458663:p.Gln247*					CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*	p.Q1156*			Q96RK0	CIC_HUMAN			6	3534	+		Prostate(69;0.00682)	247			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3466C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	41	8.861012	0.98980	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.5875	14.5138	0.67807	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000160740:Q247X	Q	+	1	0	CIC	47483693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	2.284000	0.76573	0.555000	0.69702	CAG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	23	0	0	0	1	0	4	23					T	42791853	C	T	42791853	4	4	442	1	0	0	0	0	0	1	0	0	3424	711	25	2	757	2	CIC	19	42791853	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	28292314	42791853	16337130	31	37421											
CIC	23152	broad.mit.edu	37	chr19	42793116	42793116	+	Frame_Shift_Del	DEL	T	T	-													gctccggggagcagctcctgTggggcagaacggctacacac							TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42793116delT	ENST00000575354.2	+	7	1048	c.1008delT	c.(1006-1008)tgtfs	p.C336fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.C1245fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	336					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)				GCAGCTCCTGTGGGGCAGAAC	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3733-3735)tgfs		capicua transcriptional repressor							54	58	57					19																	42793116		2203	4300	6503	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793116delT	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.1008delT	19.37:g.42793116delT	ENSP00000458663:p.Cys336fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.C336fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs	p.C1245fs			Q96RK0	CIC_HUMAN			8	3803	+		Prostate(69;0.00682)	336			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3735delT	CCDS12601.1																																																																																				0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	58						9	58	---	---	---	---	-	42793116	T	-	42793116	7	5	442	1	0	1	0	1	0	0	0	0	3424	1702	59	0	1034	0	CIC	19	42793116	Frame_Shift_Del	DEL	T	TCGA-S9-A7IY-01A-11D-A34A-08	1263	42793116	16335867	32	37422											
NDRG3	57446	broad.mit.edu	37	chr20	35293691	35293691	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtatgggtctttcgatctCcaggtctctgcgtctagaaa	10	10	4	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr20:35293691C>A	ENST00000349004.1	-	11	787	c.706G>T	c.(706-708)Gag>Tag	p.E236*	NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224*|NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*|NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000373803.2_Nonsense_Mutation_p.E236*	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	236					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)				CTTTCGATCTCCAGGTCTCTG	0.368																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(706-708)Gag>Tag		NDRG family member 3							193	198	197					20																	35293691		2203	4300	6503	SO:0001587	stop_gained	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35293691C>A	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.706G>T	20.37:g.35293691C>A	ENSP00000345292:p.Glu236*					NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*|NDRG3_ENST00000349004.1_Nonsense_Mutation_p.E236*|NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224*	p.E236*			Q9UGV2	NDRG3_HUMAN			11	762	-		Myeloproliferative disorder(115;0.00878)	236					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Nonsense_Mutation	SNP	ENST00000349004.1	37	c.706G>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968694	0.92855	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	.	.	.	5.0	5.0	0.66597	.	0.153348	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	16.1769	0.81857	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;224;141;132	.	ENSP00000345292:E236X	E	-	1	0	NDRG3	34727105	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.856000	0.75450	2.761000	0.94854	0.650000	0.86243	GAG		0.368	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			5	143	1	0	0.000602214	1	0.000616903	5	143					A	35293691	C	A	35293691	4	1	442	1	0	0	0	0	0	1	0	0	10253	864	30	4	445	4	NDRG3	20	35293691	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		35293691	27731829	33	37423											
CBY1	25776	broad.mit.edu	37	chr22	39064094	39064094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatacgttcagtccgaagaAgacacctcctcggaagtcgg	11	11	1	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39064094A>G	ENST00000216029.3	+	2	169	c.35A>G	c.(34-36)aAg>aGg	p.K12R	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	12					cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGTCCGAAGAAGACACCTCCT	0.537																																						ENST00000216029.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(34-36)aAg>aGg		chibby homolog 1 (Drosophila)							109	97	101					22																	39064094		2203	4300	6503	SO:0001583	missense	25776				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding	g.chr22:39064094A>G	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"chibby CTNNB1-mediated transcription inhibitor"	607757	"chromosome 22 open reading frame 2", "PKD2 interactor, golgi and endoplasmic reticulum associated 1"	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.35A>G	22.37:g.39064094A>G	ENSP00000216029:p.Lys12Arg					RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.1_RNA	p.K12R	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN			2	169	+	Melanoma(58;0.04)		12					B2R4S2|Q66GT6|Q9UIK9	Missense_Mutation	SNP	ENST00000216029.3	37	c.35A>G	CCDS13974.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331951	0.81801	.	.	ENSG00000100211	ENST00000411557;ENST00000396811;ENST00000216029;ENST00000416285	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	L	0.46157	1.445	0.51012	D	0.999909	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.945	T	0.64892	-0.6300	9	0.25106	T	0.35	-2.8069	14.9809	0.71311	1.0:0.0:0.0:0.0	.	12;12	B0QY53;Q9Y3M2	.;CBY1_HUMAN	R	12	.	ENSP00000216029:K12R	K	+	2	0	CBY1	37394040	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.962000	0.70364	1.932000	0.55993	0.456000	0.33151	AAG		0.537	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		26	38	0	0	0	1	0	26	38					G	39064094	A	G	39064094	3	3	442	1	0	0	0	0	1	0	0	0	2725	72	3	3	37	3	CBY1	22	39064094	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		39064094	12240472	34	37424											
CACNA1I	8911	broad.mit.edu	37	chr22	39994226	39994226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggcatgtaccagccgtgcGacgacatggactgcctgtcc	12	13	0	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39994226G>A	ENST00000402142.3	+	2	307	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000336649.4_Missense_Mutation_p.D103N	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	103					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)	CCAGCCGTGCGACGACATGGA	0.632																																						ENST00000336649.4																			0				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						c.(307-309)Gac>Aac		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						65	70	68					22																	39994226		2153	4252	6405	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39994226G>A	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.307G>A	22.37:g.39994226G>A	ENSP00000385019:p.Asp103Asn					CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N	p.D103N			Q9P0X4	CAC1I_HUMAN			4	307	+	Melanoma(58;0.0749)		103					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.307G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514711	0.64634	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	4.03	3.0	0.34707	.	0.558749	0.17053	N	0.188875	D	0.90580	0.7047	N	0.12182	0.205	0.37316	D	0.909351	P;B;P;P	0.49358	0.727;0.093;0.923;0.585	B;B;B;B	0.33620	0.108;0.056;0.167;0.113	D	0.90602	0.4545	10	0.56958	D	0.05	.	13.065	0.59028	0.0:0.0:0.838:0.162	.	103;103;103;103	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	N	103	ENSP00000385019:D103N;ENSP00000384093:D103N;ENSP00000383887:D103N;ENSP00000385680:D103N;ENSP00000337829:D103N;ENSP00000383028:D103N	ENSP00000337829:D103N	D	+	1	0	CACNA1I	38324172	1.000000	0.71417	0.197000	0.23402	0.973000	0.67179	7.686000	0.84128	0.900000	0.36469	0.549000	0.68633	GAC		0.632	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	16	0	0	0	1	0	3	16					A	39994226	G	A	39994226	3	1	442	1	0	0	0	0	1	0	0	0	2546	1058	37	1	313	1	CACNA1I	22	39994226	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	930132	39994226	11310340	35	37425											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			5	1						5	1	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	442	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-S9-A7IY-01A-11D-A34A-08		51239296	104031264	36	37426											
LPHN2	23266	broad.mit.edu	37	chr1	82456565	82456565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacagagactctctttaTacaagcatgcccaatcttag	5	13	2	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:82456565T>C	ENST00000370728.1	+	25	4761	c.4116T>C	c.(4114-4116)taT>taC	p.Y1372Y	LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Silent_p.Y1387Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y			O95490	LPHN2_HUMAN	latrophilin 2	1372					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)		ACTCTCTTTATACAAGCATGC	0.512																																						ENST00000370728.1																			0				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						c.(4114-4116)taT>taC		latrophilin 2							87	85	85					1																	82456565		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456565T>C	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.4116T>C	1.37:g.82456565T>C						LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000370725.1_Silent_p.Y1387Y	p.Y1372Y			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	25	4761	+			1372					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.4116T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.266|0.266	-0.995936|-0.995936	0.02145|0.02145	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328	.|T	.|0.52057	.|0.68	5.25|5.25	-8.99|-8.99	0.00751|0.00751	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.44265|0.44265	0.1285|0.1285	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73636|0.73636	-0.3920|-0.3920	4|7	.|0.87932	.|D	.|0	.|.	15.8542|15.8542	0.78965|0.78965	0.0:0.3377:0.0:0.6623|0.0:0.3377:0.0:0.6623	.|.	.|.	.|.	.|.	T|H	1264|384	.|ENSP00000385853:Y384H	.|ENSP00000385853:Y384H	I|Y	+|+	2|1	0|0	LPHN2|LPHN2	82229153|82229153	0.988000|0.988000	0.35896|0.35896	0.001000|0.001000	0.08648|0.08648	0.855000|0.855000	0.48748|0.48748	0.300000|0.300000	0.19156|0.19156	-2.443000|-2.443000	0.00548|0.00548	-2.109000|-2.109000	0.00356|0.00356	ATA|TAC		0.512	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		22	43	0	0	0	1	0	22	43					C	82456565	T	C	82456565	2	2	443	1	0	0	0	0	0	0	0	1	8916	1413	49	3		3	LPHN2	1	82456565	Silent	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08		82456565	166794056	1	37427											
EVI5	7813	broad.mit.edu	37	chr1	92979278	92979278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaaccacttggttgcTctctctggtctccagcacac	7	14	3	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:92979278T>C	ENST00000370331.1	-	18	2377	c.2368A>G	c.(2368-2370)Agc>Ggc	p.S790G	EVI5_ENST00000543509.1_Missense_Mutation_p.S801G|EVI5_ENST00000540033.1_Missense_Mutation_p.S790G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	790	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTGGTTGCTCTCTCTGGTC	0.488																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(2368-2370)Agc>Ggc		ecotropic viral integration site 5							136	137	137					1																	92979278		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979278T>C	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2368A>G	1.37:g.92979278T>C	ENSP00000359356:p.Ser790Gly					EVI5_ENST00000540033.1_Missense_Mutation_p.S790G|EVI5_ENST00000543509.1_Missense_Mutation_p.S801G	p.S790G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2377	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	790			Interaction with AURKB and INCENP.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.2368A>G	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	4.919	0.170801	0.09391	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.06142	3.34;3.34;3.34	5.72	0.626	0.17670	.	0.873016	0.10234	N	0.699227	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48747	-0.9008	10	0.45353	T	0.12	3.3688	1.171	0.01826	0.1442:0.1538:0.2649:0.4371	.	801;790	F5H4R0;O60447	.;EVI5_HUMAN	G	790;790;801	ENSP00000359356:S790G;ENSP00000440826:S790G;ENSP00000445019:S801G	ENSP00000359356:S790G	S	-	1	0	EVI5	92751866	0.000000	0.05858	0.043000	0.18650	0.009000	0.06853	-0.192000	0.09587	-0.139000	0.11414	-0.323000	0.08544	AGC		0.488	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		57	112	0	0	0	1	0	57	112					C	92979278	T	C	92979278	3	2	443	1	0	0	0	0	1	0	0	0	5289	1551	54	3	68	3	EVI5	1	92979278	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	10522713	92979278	156271343	2	37428											
THBS3	7059	broad.mit.edu	37	chr1	155171215	155171215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagcctagctcacctggcagGacactgcaccattgcgttca	9	14	2	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:155171215G>T	ENST00000368378.3	-	11	1342	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	441	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			CACCTGGCAGGACACTGCACC	0.612																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1321-1323)tCc>tAc		thrombospondin 3							95	101	99					1																	155171215		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155171215G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1322C>A	1.37:g.155171215G>T	ENSP00000357362:p.Ser441Tyr					RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Missense_Mutation_p.S291Y|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|RP11-263K19.4_ENST00000430312.1_RNA	p.S441Y	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	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)		11	1342	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		441			EGF-like 4.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1322C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917793	0.73098	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;T	0.82344	-1.53;-1.6;-1.12	4.71	4.71	0.59529	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.130416	0.52532	D	0.000077	T	0.81273	0.4788	M	0.76328	2.33	0.39878	D	0.973601	P;P;P;P	0.51933	0.949;0.949;0.949;0.949	P;P;B;P	0.46940	0.527;0.532;0.43;0.532	D	0.84939	0.0864	10	0.87932	D	0	-20.5026	13.3465	0.60575	0.0:0.0:1.0:0.0	.	321;441;441;441	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	Y	441;321;291	ENSP00000357362:S441Y;ENSP00000392207:S321Y;ENSP00000404040:S291Y	ENSP00000357362:S441Y	S	-	2	0	THBS3	153437839	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	2.655000	0.46707	2.618000	0.88619	0.591000	0.81541	TCC		0.612	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		6	91	1	0	0.217242	1	0.217242	6	91					T	155171215	G	T	155171215	3	4	443	1	0	0	0	0	1	0	0	0	15852	1174	41	4	1600	4	THBS3	1	155171215	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	62191937	155171215	94079406	3	37429											
BCAN	63827	broad.mit.edu	37	chr1	156626790	156626790	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcctgctacaagcacttttCcacacgaaggagctgggagg	12	12	0	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:156626790C>A	ENST00000329117.5	+	10	2447	c.2111C>A	c.(2110-2112)tCc>tAc	p.S704Y	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	704	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACTTTTCCACACGAAGG	0.627																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2110-2112)tCc>tAc		brevican							47	49	48					1																	156626790		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626790C>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2111C>A	1.37:g.156626790C>A	ENSP00000331210:p.Ser704Tyr					BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.S704Y	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			10	2447	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		704			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2111C>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864161	0.51482	.	.	ENSG00000132692	ENST00000329117	T	0.17854	2.25	5.29	5.29	0.74685	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.316966	0.27084	N	0.021007	T	0.16428	0.0395	M	0.64404	1.975	0.37522	D	0.917579	P	0.50710	0.938	P	0.47470	0.548	T	0.00928	-1.1511	10	0.72032	D	0.01	-13.6089	12.7101	0.57083	0.1646:0.8354:0.0:0.0	.	704	Q96GW7	PGCB_HUMAN	Y	704	ENSP00000331210:S704Y	ENSP00000331210:S704Y	S	+	2	0	BCAN	154893414	0.003000	0.15002	0.744000	0.31058	0.397000	0.30659	1.915000	0.39976	2.756000	0.94617	0.561000	0.74099	TCC		0.627	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		18	30	1	0	5.3912e-06	1	6.23688e-06	18	30					A	156626790	C	A	156626790	3	1	443	1	0	0	0	0	1	0	0	0	1345	855	30	4	2219	4	BCAN	1	156626790	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	1455575	156626790	92623831	4	37430											
IARS2	55699	broad.mit.edu	37	chr1	220284136	220284136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttaaagttataaagAtgcttcagactgcaaagaat	6	4	1	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:220284136A>T	ENST00000302637.5	+	11	1440	c.1336A>T	c.(1336-1338)Atg>Ttg	p.M446L	IARS2_ENST00000366922.1_Missense_Mutation_p.M374L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	446					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGTTATAAAGATGCTTCAGAC	0.338																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1120-1122)Atg>Ttg		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						61	65	64					1																	220284136		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220284136A>T	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1336A>T	1.37:g.220284136A>T	ENSP00000303279:p.Met446Leu					IARS2_ENST00000302637.5_Missense_Mutation_p.M446L	p.M374L			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	11	1451	+			446					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1120A>T	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	A	9.747	1.166482	0.21621	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.32988	1.43;1.43	5.3	4.15	0.48705	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.143274	0.85682	N	0.000000	T	0.18593	0.0446	N	0.13299	0.325	0.50171	D	0.999857	P	0.44309	0.832	B	0.42495	0.389	T	0.02477	-1.1153	10	0.11182	T	0.66	-0.8986	12.541	0.56169	0.8605:0.1395:0.0:0.0	.	446	Q9NSE4	SYIM_HUMAN	L	374;446	ENSP00000355889:M374L;ENSP00000303279:M446L	ENSP00000303279:M446L	M	+	1	0	IARS2	218350759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.426000	0.59882	0.932000	0.37266	0.460000	0.39030	ATG		0.338	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		14	73	0	0	0	1	0	14	73					T	220284136	A	T	220284136	3	4	443	1	0	0	0	0	1	0	0	0	7474	333	12	5	1378	5	IARS2	1	220284136	Missense_Mutation	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08	63657346	220284136	28966485	5	37431											
C2orf34	79823	broad.mit.edu	37	chr2	44931420	44931420	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttatcctcttgtgttttctAggcatctggccatctgaaga	8	9	4	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:44931420A>C	ENST00000378494.3	+	4	420		c.e4-1			NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						TGTGTTTTCTAGGCATCTGGC	0.348																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.e4-1		calmodulin-lysine N-methyltransferase							116	111	113					2																	44931420		2203	4300	6503	SO:0001630	splice_region_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44931420A>C		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.377-1A>C	2.37:g.44931420A>C								NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			4	420	+								Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Splice_Site	SNP	ENST00000378494.3	37		CCDS1820.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565390	0.65651	.	.	ENSG00000143919	ENST00000378494	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7449	0.69483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMKMT	44784924	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.992000	0.88273	1.948000	0.56530	0.477000	0.44152	.		0.348	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Intron	11	70	0	0	0	1	0	11	70					C	44931420	A	C	44931420	5	2	443	1	0	0	0	0	0	0	1	0	2163	434	15	5	389	5	C2orf34	2	44931420	Splice_Site	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08		44931420	198267953	6	37432											
PSME4	23198	broad.mit.edu	37	chr2	54128611	54128611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaagaaacaatcgctGgccacgtctgtacaatacag	9	12	1	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:54128611G>A	ENST00000404125.1	-	28	3216	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1054					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACAATCGCTGGCCACGTCTG	0.438																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3160-3162)cCa>cTa		proteasome (prosome, macropain) activator subunit 4							143	136	138					2																	54128611		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54128611G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3161C>T	2.37:g.54128611G>A	ENSP00000384211:p.Pro1054Leu					PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	p.P1054L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		28	3216	-			1054					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3161C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371436	0.61624	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.25749	1.78;1.79	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.43152	1.355	0.80722	D	1	B;B;B	0.33494	0.414;0.099;0.29	B;B;B	0.34722	0.188;0.041;0.092	T	0.03695	-1.1012	10	0.08179	T	0.78	.	19.6148	0.95629	0.0:0.0:1.0:0.0	.	429;198;1054	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	L	198;1054	ENSP00000410830:P198L;ENSP00000384211:P1054L	ENSP00000384211:P1054L	P	-	2	0	PSME4	53982115	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.634000	0.89283	0.557000	0.71058	CCA		0.438	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		65	112	0	0	0	1	0	65	112					A	54128611	G	A	54128611	3	1	443	1	0	0	0	0	1	0	0	0	12709	1348	47	2	2446	2	PSME4	2	54128611	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	9197191	54128611	189070762	7	37433											
LRP2	4036	broad.mit.edu	37	chr2	170097528	170097528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactcatctgtcccattggGgcagtcaaagatgccatcac	10	12	4	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:170097528G>T	ENST00000263816.3	-	25	4300	c.4015C>A	c.(4015-4017)Ccc>Acc	p.P1339T	LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1339	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	GTCCCATTGGGGCAGTCAAAG	0.488																																						ENST00000263816.3																			0				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						c.(4015-4017)Ccc>Acc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						128	110	116					2																	170097528		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170097528G>T		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.4015C>A	2.37:g.170097528G>T	ENSP00000263816:p.Pro1339Thr					LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	p.P1339T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	25	4300	-			1339			LDL-receptor class A 15.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4015C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704476	0.88924	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95272	-2.41;-3.66	6.02	6.02	0.97574	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97363	0.9971	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	1202;1339	E9PC35;P98164	.;LRP2_HUMAN	T	1339;1202	ENSP00000263816:P1339T;ENSP00000409813:P1202T	ENSP00000263816:P1339T	P	-	1	0	LRP2	169805774	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.807000	0.99171	2.857000	0.98124	0.650000	0.86243	CCC		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	60	1	0	0.00024832	1	0.000271313	4	60					T	170097528	G	T	170097528	3	4	443	1	0	0	0	0	1	0	0	0	8956	1232	43	4	10172	4	LRP2	2	170097528	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	115968917	170097528	73101845	8	37434											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	64	0	0	0	1	0	31	64					T	209113112	C	T	209113112	3	4	443	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	39015584	209113112	34086261	9	37435											
XPC	7508	broad.mit.edu	37	chr3	14220007	14220007	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggccttgctcttggccttgGatttctggctgcgcagttcg	14	11	2	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr3:14220007G>C	ENST00000285021.7	-	1	276	c.62C>G	c.(61-63)tCc>tGc	p.S21C	XPC_ENST00000449060.2_Missense_Mutation_p.S21C|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	21					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGGCCTTGGATTTCTGGCT	0.697			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"Mis, N, F, S"	"xeroderma pigmentosum, complementation group C"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(61-63)tCc>tGc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							30	36	34					3																	14220007		1956	4120	6076	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14220007G>C		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.62C>G	3.37:g.14220007G>C	ENSP00000285021:p.Ser21Cys					XPC_ENST00000449060.2_Missense_Mutation_p.S21C|LSM3_ENST00000306024.3_5'UTR	p.S21C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	276	-			21					B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.62C>G	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799469	0.70567	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.64085	-0.08;-0.08;-0.06	4.89	2.95	0.34219	.	1.539220	0.03689	N	0.246801	T	0.47783	0.1464	N	0.14661	0.345	0.28112	N	0.93095	B;B	0.33637	0.42;0.42	B;B	0.31869	0.137;0.137	T	0.48293	-0.9048	10	0.54805	T	0.06	-7.5356	8.6957	0.34293	0.0861:0.153:0.7609:0.0	.	21;21	E9PH69;Q01831	.;XPC_HUMAN	C	21	ENSP00000285021:S21C;ENSP00000404002:S21C;ENSP00000423867:S21C	ENSP00000285021:S21C	S	-	2	0	XPC	14195011	0.000000	0.05858	0.004000	0.12327	0.333000	0.28666	0.594000	0.24014	1.181000	0.42912	0.591000	0.81541	TCC		0.697	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		8	56	0	0	0	1	0	8	56					C	14220007	G	C	14220007	3	2	443	1	0	0	0	0	1	0	0	0	17438	1174	41	4	1773	4	XPC	3	14220007	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		14220007	183802423	10	37436											
TLL1	7092	broad.mit.edu	37	chr4	166924714	166924714	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actatcataagagaaaacatCcagccaggtgagaggcatag	10	8	1	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr4:166924714C>A	ENST00000061240.2	+	6	1451	c.804C>A	c.(802-804)atC>atA	p.I268I	TLL1_ENST00000513213.1_Silent_p.I268I|TLL1_ENST00000507499.1_Silent_p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	268	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGAAAACATCCAGCCAGGTG	0.383																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(802-804)atC>atA		tolloid-like 1							136	125	128					4																	166924714		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166924714C>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.804C>A	4.37:g.166924714C>A						TLL1_ENST00000507499.1_Silent_p.I268I|TLL1_ENST00000513213.1_Silent_p.I268I	p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	6	1451	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	268			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.804C>A	CCDS3811.1																																																																																				0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			21	36	1	0	5.26018e-13	1	6.33368e-13	21	36					A	166924714	C	A	166924714	2	1	443	1	0	0	0	0	0	0	0	1	15942	845	30	4		4	TLL1	4	166924714	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		166924714	24229562	11	37437											
DNAH5	1767	broad.mit.edu	37	chr5	13923453	13923453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagaacacacataccCcagtaagagccacatcgttt	7	11	0	4			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:13923453C>A	ENST00000265104.4	-	4	478	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	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)	p.G125V(1)		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)					CACACATACCCCAGTAAGAGC	0.473									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.G125V(1)	lung(1)	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						c.(373-375)gGg>gTg		dynein, axonemal, heavy chain 5							242	228	233					5																	13923453		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13923453C>A	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.374G>T	5.37:g.13923453C>A	ENSP00000265104:p.Gly125Val						p.G125V	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			4	478	-	Lung NSC(4;0.00476)		125			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.374G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288258	0.59976	.	.	ENSG00000039139	ENST00000265104	T	0.26373	1.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.84948	2.725	0.80722	D	1	D	0.62365	0.991	P	0.62089	0.898	T	0.61749	-0.6999	10	0.87932	D	0	.	19.8162	0.96569	0.0:1.0:0.0:0.0	.	125	Q8TE73	DYH5_HUMAN	V	125	ENSP00000265104:G125V	ENSP00000265104:G125V	G	-	2	0	DNAH5	13976453	1.000000	0.71417	0.159000	0.22649	0.092000	0.18411	7.162000	0.77515	2.681000	0.91329	0.655000	0.94253	GGG		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	201	1	0	0.00909568	1	0.00941483	4	201					A	13923453	C	A	13923453	3	1	443	1	0	0	0	0	1	0	0	0	4604	623	22	4	13804	4	DNAH5	5	13923453	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		13923453	166991807	12	37438											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541201	178541201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctatcctgccctccacGttggtgaggttgttgtacag	12	11	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:178541201G>A	ENST00000251582.7	-	22	3404	c.3303C>T	c.(3301-3303)aaC>aaT	p.N1101N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1101					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)		TGCCCTCCACGTTGGTGAGGT	0.547																																						ENST00000251582.7																			0				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						c.(3301-3303)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2							145	109	122					5																	178541201		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541201G>A	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.3303C>T	5.37:g.178541201G>A							p.N1101N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3404	-	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)	1101						Silent	SNP	ENST00000251582.7	37	c.3303C>T	CCDS4444.1																																																																																				0.547	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	38	0	0	0	1	0	4	38					A	178541201	G	A	178541201	2	1	443	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178541201	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	164617748	178541201	2374059	13	37439											
MYLK4	340156	broad.mit.edu	37	chr6	2678591	2678591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgtcacccaggaaaggCgacaaaccgctaagtctgga	10	11	3	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr6:2678591C>T	ENST00000274643.7	-	10	1245	c.903G>A	c.(901-903)tcG>tcA	p.S301S	MYLK4_ENST00000268446.5_Silent_p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CCAGGAAAGGCGACAAACCGC	0.498																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(901-903)tcG>tcA		myosin light chain kinase family, member 4							105	93	97					6																	2678591		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2678591C>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.903G>A	6.37:g.2678591C>T						MYLK4_ENST00000268446.5_Silent_p.S301S	p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			10	1245	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	301			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.903G>A	CCDS34330.1																																																																																				0.498	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		4	118	0	0	0	1	0	4	118					T	2678591	C	T	2678591	2	4	443	1	0	0	0	0	0	0	0	1	10059	755	27	1		1	MYLK4	6	2678591	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		2678591	168436476	14	37440											
ARL4A	10124	broad.mit.edu	37	chr7	12728279	12728282	+	Frame_Shift_Del	DEL	AACA	AACA	-													tccctgtacttatagttgctAacaaacaagatttgaggaac							TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:12728279_12728282delAACA	ENST00000396663.1	+	2	882_885	c.400_403delAACA	c.(400-405)aacaaafs	p.NK134fs	ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	134					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TATAGTTGCTAACAAACAAGATTT	0.402																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(400-405)aafs		ADP-ribosylation factor-like 4A																																				SO:0001589	frameshift_variant	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728279_12728282delAACA	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	695	protein-coding gene	gene with protein product		604786	"ADP-ribosylation factor-like 4"	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.400_403delAACA	7.37:g.12728283_12728286delAACA	ENSP00000379898:p.Asn134fs					ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs	p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	882_885	+			134					A4D119|P80418|Q49AF5	Frame_Shift_Del	DEL	ENST00000396663.1	37	c.400_403delAACA	CCDS5359.1																																																																																				0.402	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		17	74						17	74	---	---	---	---	-	12728282	AACA	-	12728279	7	5	443	1	0	1	0	1	0	0	0	0	936	362	13	0	402	0	ARL4A	7	12728279	Frame_Shift_Del	DEL	AACA	TCGA-S9-A7IZ-01A-11D-A34A-08		12728279	146410384	15	37441											
ZAN	7455	broad.mit.edu	37	chr7	100364638	100364638	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttctccacaggtgccGccacctgcacagcctcgggt	9	17	3	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100364638G>A	ENST00000348028.3	+	0	4783				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_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)			CACAGGTGCCGCCACCTGCAC	0.607																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							83	88	86					7																	100364638		2173	4277	6450			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100364638G>A	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.100364638G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4766	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	27.1	4.798576	0.90538	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.25414	2.31;2.31;2.27;1.8	4.44	3.53	0.40419	von Willebrand factor, type D domain (1);	0.916883	0.08970	N	0.867310	T	0.37237	0.0996	M	0.76574	2.34	0.18873	N	0.999989	D;D	0.57899	0.981;0.968	P;B	0.47044	0.535;0.334	T	0.23332	-1.0191	10	0.66056	D	0.02	.	10.2566	0.43401	0.0:0.0:0.8014:0.1986	.	1540;1540	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	1540;1540;1540;117	ENSP00000445943:A1540T;ENSP00000445091:A1540T;ENSP00000444427:A1540T;ENSP00000441117:A117T	ENSP00000423579:A1540T	A	+	1	0	ZAN	100202574	0.004000	0.15560	0.190000	0.23270	0.086000	0.17979	0.478000	0.22212	1.150000	0.42419	0.556000	0.70494	GCC		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		35	122	0	0	0	1	0	35	122					A	100364638	G	A	100364638	1	1	443	0	1	0	0	0	0	0	0	0	17510	1087	38	1		1	ZAN	7	100364638	RNA	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	87636359	100364638	58774025	16	37442											
FAM71F1	84691	broad.mit.edu	37	chr7	128369970	128369970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctagggaaagattcttccCgtgaagacagcatcccttgc	9	11	2	3	rs371672698		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:128369970C>T	ENST00000315184.5	+	6	921	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	290										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGATTCTTCCCGTGAAGACAG	0.527																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(868-870)Cgt>Tgt		family with sequence similarity 71, member F1							119	107	111					7																	128369970		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128369970C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.868C>T	7.37:g.128369970C>T	ENSP00000326652:p.Arg290Cys					FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	p.R290C	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			6	921	+			290					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.868C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	6.809	0.518390	0.13005	.	.	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.24723	1.84;3.22	4.12	-8.24	0.01029	.	2.557810	0.01386	N	0.013085	T	0.07954	0.0199	N	0.02011	-0.69	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	0.23583	-1.0184	10	0.52906	T	0.07	17.3433	1.9105	0.03286	0.1524:0.3883:0.2383:0.221	.	288;290;189	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	C	189;290	ENSP00000418192:R189C;ENSP00000326652:R290C	ENSP00000326652:R290C	R	+	1	0	FAM71F1	128157206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.184000	0.03076	-1.786000	0.01269	-1.693000	0.00726	CGT		0.527	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		5	131	0	0	0	1	0	5	131					T	128369970	C	T	128369970	3	4	443	1	0	0	0	0	1	0	0	0	5612	652	23	1	890	1	FAM71F1	7	128369970	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	28005332	128369970	30768693	17	37443											
SSPO	23145	broad.mit.edu	37	chr7	149513538	149513538	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctgcgcccacgtcaCgcagcaggtgggctgcttct	11	16	3	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:149513538C>T	ENST00000378016.2	+	0	11159							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)			GCCCACGTCACGCAGCAGGTG	0.692																																						ENST00000378016.2																			0													SCO-spondin							10	15	13					7																	149513538		2019	4136	6155			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149513538C>T	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.149513538C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11159	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.692	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	2	0	0	0	1	0	5	2					T	149513538	C	T	149513538	1	4	443	0	1	0	0	0	0	0	0	0	15188	536	19	1		1	SSPO	7	149513538	RNA	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	21143568	149513538	9625125	18	37444											
MYBL1	4603	broad.mit.edu	37	chr8	67485730	67485730	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgttcattaccaggacaTgtgttgaaaaactagaaagg	10	5	1	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:67485730T>C	ENST00000522677.3	-	11	1892	c.1482A>G	c.(1480-1482)acA>acG	p.T494T	MYBL1_ENST00000524176.2_Silent_p.T494T|MYBL1_ENST00000517885.1_Silent_p.T152T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	494	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCAGGACATGTGTTGAAAA	0.323																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1480-1482)acA>acG		v-myb avian myeloblastosis viral oncogene homolog-like 1							81	77	78					8																	67485730		1811	4079	5890	SO:0001819	synonymous_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67485730T>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1482A>G	8.37:g.67485730T>C						MYBL1_ENST00000517885.1_Silent_p.T152T|MYBL1_ENST00000524176.2_Silent_p.T494T	p.T494T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		11	1892	-			494			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Silent	SNP	ENST00000522677.3	37	c.1482A>G	CCDS47867.1																																																																																				0.323	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		23	18	0	0	0	1	0	23	18					C	67485730	T	C	67485730	2	2	443	1	0	0	0	0	0	0	0	1	10009	1451	51	3		3	MYBL1	8	67485730	Silent	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08		67485730	78878292	19	37445											
EPPK1	83481	broad.mit.edu	37	chr8	144940742	144940742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgggcaccaggacgcccGcgatgcagctggtgccctcc	15	16	0	0	rs549060166	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:144940742G>A	ENST00000525985.1	-	2	6751	c.6680C>T	c.(6679-6681)gCg>gTg	p.A2227V				P58107	EPIPL_HUMAN	epiplakin 1	2227						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)			CAGGACGCCCGCGATGCAGCT	0.677													G|||	3	0.000599042	0.0023	0.0	5008	,	,		61066	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			0				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						c.(6679-6681)gCg>gTg		epiplakin 1																																				SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940742G>A	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.6680C>T	8.37:g.144940742G>A	ENSP00000436337:p.Ala2227Val						p.A2227V			P58107	EPIPL_HUMAN	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)		2	6751	-	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)		2227					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6680C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.489922	0.96339	.	.	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	4.67	4.67	0.58626	.	.	.	.	.	D	0.86936	0.6053	M	0.84433	2.695	0.47778	D	0.999511	D	0.89917	1.0	D	0.97110	1.0	D	0.88471	0.3062	9	0.56958	D	0.05	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2227	E9PPU0	.	V	2227	ENSP00000436337:A2227V	ENSP00000436337:A2227V	A	-	2	0	EPPK1	145012730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.474000	0.73578	2.420000	0.82092	0.591000	0.81541	GCG		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	165	0	0	0	1	0	4	165					A	144940742	G	A	144940742	3	1	443	1	0	0	0	0	1	0	0	0	5190	1087	38	1	586	1	EPPK1	8	144940742	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	77455012	144940742	1423280	20	37446											
C8orf33	65265	broad.mit.edu	37	chr8	146278468	146278468	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacaacagttggcccaggaAttggcttggtgtgtggagca	15	8	0	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:146278468A>T	ENST00000331434.6	+	3	453	c.339A>T	c.(337-339)gaA>gaT	p.E113D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	113										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	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)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TGGCCCAGGAATTGGCTTGGT	0.597																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(337-339)gaA>gaT		chromosome 8 open reading frame 33							73	76	75					8																	146278468		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146278468A>T		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.339A>T	8.37:g.146278468A>T	ENSP00000330361:p.Glu113Asp						p.E113D	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	3	453	+	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)		113					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.339A>T	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	16.46	3.129412	0.56721	.	.	ENSG00000182307	ENST00000331434	.	.	.	3.94	-0.273	0.12915	.	0.259998	0.36628	N	0.002499	T	0.70307	0.3209	M	0.82323	2.585	0.45634	D	0.998569	D	0.67145	0.996	D	0.75484	0.986	T	0.67086	-0.5759	8	.	.	.	-16.8884	5.944	0.19209	0.5113:0.0:0.4887:0.0	.	113	Q9H7E9	CH033_HUMAN	D	113	.	.	E	+	3	2	C8orf33	146249272	0.986000	0.35501	0.993000	0.49108	0.136000	0.21042	-0.293000	0.08320	0.096000	0.17463	0.482000	0.46254	GAA		0.597	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		14	31	0	0	0	1	0	14	31					T	146278468	A	T	146278468	3	4	443	1	0	0	0	0	1	0	0	0	2421	98	4	5	349	5	C8orf33	8	146278468	Missense_Mutation	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08	1337726	146278468	85554	21	37447											
OR2D2	120776	broad.mit.edu	37	chr11	6913253	6913253	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctcagtatgaaggtgGtgtctaccacagacaccaga	11	10	2	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:6913253G>C	ENST00000299459.2	-	1	577	c.479C>G	c.(478-480)aCc>aGc	p.T160S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	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(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGAAGGTGGTGTCTACCAC	0.502																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(478-480)aCc>aGc		olfactory receptor, family 2, subfamily D, member 2							122	92	102					11																	6913253		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913253G>C	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"GPCR / Class A : Olfactory receptors"	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.479C>G	11.37:g.6913253G>C	ENSP00000299459:p.Thr160Ser						p.T160S	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	577	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	160					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.479C>G	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648276	0.29336	.	.	ENSG00000166368	ENST00000299459	T	0.00258	8.41	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.409461	0.20813	N	0.085208	T	0.00178	0.0005	L	0.59967	1.855	0.23862	N	0.996632	B	0.23591	0.088	B	0.25506	0.061	T	0.42666	-0.9438	10	0.14252	T	0.57	-11.1918	9.7915	0.40708	0.0915:0.0:0.9085:0.0	.	160	Q9H210	OR2D2_HUMAN	S	160	ENSP00000299459:T160S	ENSP00000299459:T160S	T	-	2	0	OR2D2	6869829	0.009000	0.17119	0.984000	0.44739	0.980000	0.70556	1.616000	0.36933	2.840000	0.97914	0.645000	0.84053	ACC		0.502	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		25	22	0	0	0	1	0	25	22					C	6913253	G	C	6913253	3	2	443	1	0	0	0	0	1	0	0	0	10994	1261	44	4	450	4	OR2D2	11	6913253	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		6913253	128093263	22	37448											
AMOTL1	154810	broad.mit.edu	37	chr11	94532857	94532857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcaagaacaccaggtGgacaatacggtgatggagaa	14	7	1	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:94532857G>A	ENST00000433060.2	+	3	642	c.501G>A	c.(499-501)gtG>gtA	p.V167V	AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	167					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AACACCAGGTGGACAATACGG	0.527																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(499-501)gtG>gtA		angiomotin like 1							59	64	63					11																	94532857		2159	4270	6429	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94532857G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.501G>A	11.37:g.94532857G>A						AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	642	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	167					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.501G>A	CCDS44712.1																																																																																				0.527	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		10	25	0	0	0	1	0	10	25					A	94532857	G	A	94532857	2	1	443	1	0	0	0	0	0	0	0	1	583	1335	47	2		2	AMOTL1	11	94532857	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	87619604	94532857	40473659	23	37449											
EXPH5	23086	broad.mit.edu	37	chr11	108383203	108383203	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcaagttcagaaacttTggaattgctttgatttgctt	9	5	2	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:108383203T>C	ENST00000265843.4	-	6	3141	c.3031A>G	c.(3031-3033)Aaa>Gaa	p.K1011E	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E|EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1011					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)		TCAGAAACTTTGGAATTGCTT	0.378																																						ENST00000265843.4																			0				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						c.(3031-3033)Aaa>Gaa		exophilin 5							91	84	86					11																	108383203		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383203T>C		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.3031A>G	11.37:g.108383203T>C	ENSP00000265843:p.Lys1011Glu					EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E	p.K1011E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		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)	6	3141	-		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)	1011					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3031A>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	t	14.08	2.429333	0.43122	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04551	4.18;4.11;3.96;4.18;4.02;3.6	5.87	0.386	0.16254	.	0.651360	0.15598	N	0.254042	T	0.04952	0.0133	L	0.56769	1.78	0.09310	N	1	P	0.42296	0.775	B	0.36464	0.225	T	0.35176	-0.9799	10	0.35671	T	0.21	-5.9186	6.7553	0.23510	0.0:0.1446:0.2527:0.6027	.	1011	Q8NEV8	EXPH5_HUMAN	E	1011;935;823;1004;935;823	ENSP00000265843:K1011E;ENSP00000391966:K935E;ENSP00000411390:K823E;ENSP00000432546:K1004E;ENSP00000432683:K935E;ENSP00000446434:K823E	ENSP00000265843:K1011E	K	-	1	0	EXPH5	107888413	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.210000	0.17455	0.132000	0.18615	-0.253000	0.11424	AAA		0.378	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		4	111	0	0	0	1	0	4	111					C	108383203	T	C	108383203	3	2	443	1	0	0	0	0	1	0	0	0	5322	1821	63	3	2942	3	EXPH5	11	108383203	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	13850346	108383203	26623313	24	37450											
PHLDB1	23187	broad.mit.edu	37	chr11	118516368	118516368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccctgacaacatgtccaGgtacacccgacgcctgggcc	9	18	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:118516368G>A	ENST00000361417.2	+	17	3827	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Splice_Site_p.S282N|PHLDB1_ENST00000356063.5_Splice_Site_p.S1092N|PHLDB1_ENST00000527898.1_Splice_Site_p.S190N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1139										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AACATGTCCAGGTACACCCGA	0.637																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.e17+1		pleckstrin homology-like domain, family B, member 1							83	80	81					11																	118516368		2200	4295	6495	SO:0001630	splice_region_variant	23187							g.chr11:118516368G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3416+1G>A	11.37:g.118516368G>A						PHLDB1_ENST00000356063.5_Splice_Site_p.S1092_splice|PHLDB1_ENST00000527898.1_Splice_Site_p.S190_splice|PHLDB1_ENST00000524713.1_Splice_Site_p.S282_splice|PHLDB1_ENST00000534672.1_3'UTR	p.S1139_splice	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	17	3827	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1139					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Splice_Site	SNP	ENST00000361417.2	37	c.3416_splice	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112490	0.94339	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.25	5.25	0.73442	.	0.267160	0.47455	D	0.000221	T	0.60919	0.2306	L	0.53561	1.675	0.80722	D	1	P;D;D;P	0.54772	0.773;0.957;0.968;0.658	P;P;P;B	0.57009	0.597;0.71;0.811;0.423	T	0.60855	-0.7180	10	0.48119	T	0.1	-5.5541	18.8652	0.92289	0.0:0.0:1.0:0.0	.	503;898;1092;1139	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	N	1139;913;503;1092;190;282	ENSP00000354498:S1139N;ENSP00000348359:S1092N;ENSP00000435388:S190N;ENSP00000434905:S282N	ENSP00000348359:S1092N	S	+	2	0	PHLDB1	118021578	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.942000	0.75928	2.446000	0.82766	0.655000	0.94253	AGC		0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	Missense_Mutation	31	66	0	0	0	1	0	31	66					A	118516368	G	A	118516368	5	1	443	1	0	0	0	0	0	0	1	0	11851	1014	35	2	3474	2	PHLDB1	11	118516368	Splice_Site	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	10133165	118516368	16490148	25	37451											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G													aaacaagatcggaggccgtaINSgtttattgtggtgctggaag					rs60117710|rs374779752|rs200041551		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3	1		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	8	17						8	17	---	---	---	---	G	7080211	-	G	7080210	8	5	443	1	0	1	1	0	0	0	1	0	5090	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-S9-A7IZ-01A-11D-A34A-08		7080210	126771685	26	37452											
CDKN1B	1027	broad.mit.edu	37	chr12	12870948	12870948	+	Frame_Shift_Del	DEL	A	A	-													tggaagaggcgagccagcgcAagtggaatttcgattttcag							TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:12870948delA	ENST00000228872.4	+	1	891	c.175delA	c.(175-177)aagfs	p.K59fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|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 kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGCCAGCGCAAGTGGAATTT	0.577																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(175-177)agfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							88	99	95					12																	12870948		2203	4300	6503	SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870948delA	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.175delA	12.37:g.12870948delA	ENSP00000228872:p.Lys59fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs	p.K59fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	891	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	59					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Del	DEL	ENST00000228872.4	37	c.175delA	CCDS8653.1																																																																																				0.577	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		65	77						65	77	---	---	---	---	-	12870948	A	-	12870948	7	5	443	1	0	1	0	1	0	0	0	0	3159	131	5	0	177	0	CDKN1B	12	12870948	Frame_Shift_Del	DEL	A	TCGA-S9-A7IZ-01A-11D-A34A-08	5790738	12870948	120980947	27	37453											
SMARCC2	6601	broad.mit.edu	37	chr12	56558274	56558274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtggggggagagtgccCggggcgaacgggagatggtg	23	5	0	2	rs142435936		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:56558274C>T	ENST00000267064.4	-	27	3467	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Silent_p.P1158P|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1127	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)			GGAGAGTGCCCGGGGCGAACG	0.592																																						ENST00000550164.1																			0				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						c.(3472-3474)ccG>ccA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2		C	,,	0,4406		0,0,2203	84	76	79		,3381,	5.3	1	12	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,1127/1215,	56558274	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558274C>T	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.3381G>A	12.37:g.56558274C>T						SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Silent_p.P1127P	p.P1158P			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3488	-			1127			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.3474G>A	CCDS8907.1																																																																																				0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	79	0	0	0	1	0	7	79					T	56558274	C	T	56558274	2	4	443	1	0	0	0	0	0	0	0	1	14776	639	23	1		1	SMARCC2	12	56558274	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	43687326	56558274	77293621	28	37454											
WSCD2	9671	broad.mit.edu	37	chr12	108589876	108589876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcattgctcgcaggtaCggaccctggttcaagggcaa	12	11	2	0	rs375207995		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:108589876C>T	ENST00000332082.4	+	3	1085	c.267C>T	c.(265-267)taC>taT	p.Y89Y	WSCD2_ENST00000547525.1_Silent_p.Y89Y|WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000261400.3_Silent_p.Y89Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	89						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCGCAGGTACGGACCCTGGT	0.612																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(265-267)taC>taT		WSC domain containing 2		C		0,4124		0,0,2062	112	112	112		267	-1.1	1	12		112	3,8391		0,3,4194	no	coding-synonymous	WSCD2	NM_014653.2		0,3,6256	TT,TC,CC		0.0357,0.0,0.024		89/566	108589876	3,12515	2062	4197	6259	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589876C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.267C>T	12.37:g.108589876C>T						WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000547525.1_Silent_p.Y89Y|WSCD2_ENST00000261400.3_Silent_p.Y89Y	p.Y89Y			Q2TBF2	WSCD2_HUMAN			3	1085	+			89					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.267C>T	CCDS41828.1																																																																																				0.612	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		34	68	0	0	0	1	0	34	68					T	108589876	C	T	108589876	2	4	443	1	0	0	0	0	0	0	0	1	17404	547	19	1		1	WSCD2	12	108589876	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	52031602	108589876	25262019	29	37455											
CAMKK2	10645	broad.mit.edu	37	chr12	121678617	121678617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctcacaagagcacttcctCctcccccacggggggcgggt	11	17	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:121678617C>T	ENST00000324774.5	-	17	2480	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000545538.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	551					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)					AGCACTTCCTCCTCCCCCACG	0.647																																						ENST00000324774.5																			0				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						c.(1651-1653)gGa>gAa		calcium/calmodulin-dependent protein kinase kinase 2, beta							34	40	38					12																	121678617		2201	4293	6494	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121678617C>T	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.1652G>A	12.37:g.121678617C>T	ENSP00000312741:p.Gly551Glu					CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000545538.1_Intron	p.G551E	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			17	2480	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		551					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.1652G>A	CCDS9216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082123|4.082123	0.76528|0.76528	.|.	.|.	ENSG00000110931|ENSG00000110931	ENST00000538733;ENST00000337174;ENST00000412367;ENST00000360452|ENST00000347034;ENST00000324774;ENST00000404169	T;T;T|T;T;T	0.73897|0.74947	-0.78;-0.79;-0.79|-0.7;-0.89;-0.89	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|.	.|.	.|.	.|.	T|T	0.74779|0.74779	0.3761|0.3761	L|L	0.51422|0.51422	1.61|1.61	0.40897|0.40897	D|D	0.984124|0.984124	B;B|P;P	0.23650|0.40931	0.089;0.089|0.733;0.614	B;B|P;B	0.26202|0.44811	0.067;0.067|0.461;0.272	T|T	0.76900|0.76900	-0.2788|-0.2788	9|9	0.62326|0.45353	D|T	0.03|0.12	-3.2842|-3.2842	17.278|17.278	0.87121|0.87121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	494;537|508;551	Q96RR4-5;Q96RR4-3|Q96RR4-4;Q96RR4	.;.|.;KKCC2_HUMAN	K|E	494;537;537;520|508;551;551	ENSP00000445944:E494K;ENSP00000336634:E537K;ENSP00000388368:E537K|ENSP00000321230:G508E;ENSP00000312741:G551E;ENSP00000384600:G551E	ENSP00000336634:E537K|ENSP00000312741:G551E	E|G	-|-	1|2	0|0	CAMKK2|CAMKK2	120163000|120163000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.512000|5.512000	0.67030|0.67030	2.416000|2.416000	0.81992|0.81992	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.647	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		15	39	0	0	0	1	0	15	39					T	121678617	C	T	121678617	3	4	443	1	0	0	0	0	1	0	0	0	2607	864	30	2	118	2	CAMKK2	12	121678617	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	13088741	121678617	12173278	30	37456											
NBEA	26960	broad.mit.edu	37	chr13	36223967	36223967	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgactctttgcagtgaataGatggcacaacacagtaggta	10	9	1	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36223967G>T	ENST00000400445.3	+	51	8417	c.7883G>T	c.(7882-7884)aGa>aTa	p.R2628I	NBEA_ENST00000540320.1_Missense_Mutation_p.R2628I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2628					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)		GCAGTGAATAGATGGCACAAC	0.448																																						ENST00000540320.1																			0				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						c.(7882-7884)aGa>aTa		neurobeachin							89	87	88					13																	36223967		2014	4180	6194	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36223967G>T	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.7883G>T	13.37:g.36223967G>T	ENSP00000383295:p.Arg2628Ile					NBEA_ENST00000400445.3_Missense_Mutation_p.R2628I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I	p.R2628I			Q8NFP9	NBEA_HUMAN		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)	51	8417	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2628					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7883G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516755	0.85495	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	L	0.39898	1.24	0.80722	D	1	B;D;B	0.55800	0.249;0.973;0.26	B;P;B	0.61800	0.129;0.894;0.088	T	0.77477	-0.2573	10	0.46703	T	0.11	.	19.1732	0.93588	0.0:0.0:1.0:0.0	.	2628;206;2625	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	I	2628;2628;2625;2628;1255;206;421;206	ENSP00000440951:R2628I;ENSP00000383295:R2628I;ENSP00000369271:R2625I;ENSP00000308534:R2628I;ENSP00000440233:R421I;ENSP00000369254:R206I	ENSP00000308534:R2628I	R	+	2	0	NBEA	35121967	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.836000	0.86788	2.541000	0.85698	0.563000	0.77884	AGA		0.448	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		18	54	1	0	5.35267e-07	1	6.31615e-07	18	54					T	36223967	G	T	36223967	3	4	443	1	0	0	0	0	1	0	0	0	10187	942	33	4	8085	4	NBEA	13	36223967	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		36223967	78945911	31	37457											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-													acctcccctgcaggatttacAaaaaaaatctgtactccatt							TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36909272delA	ENST00000451493.1	-	2	913	c.696delT	c.(694-696)tttfs	p.F232fs	SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	232					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGGATTTACAAAAAAAATCT	0.433																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(694-696)ttfs		spastic paraplegia 20 (Troyer syndrome)							65	68	67					13																	36909272		2203	4300	6503	SO:0001589	frameshift_variant	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909272delA	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.696delT	13.37:g.36909272delA	ENSP00000414147:p.Phe232fs					SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs	p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	913	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	232					O60349|Q86Y67|Q9H1T2|Q9H1T3	Frame_Shift_Del	DEL	ENST00000451493.1	37	c.696delT	CCDS9356.1																																																																																				0.433	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			32	60						32	60	---	---	---	---	-	36909272	A	-	36909272	7	5	443	1	0	1	0	1	0	0	0	0	15041	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-S9-A7IZ-01A-11D-A34A-08	685305	36909272	78260606	32	37458											
RGS6	9628	broad.mit.edu	37	chr14	72976895	72976895	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcgagtaaaaagatgGggcttctctttcgatgagat	11	7	1	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:72976895G>A	ENST00000553530.1	+	14	1206	c.999G>A	c.(997-999)tgG>tgA	p.W333*	RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	333					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TAAAAAGATGGGGCTTCTCTT	0.453																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(997-999)tgG>tgA		regulator of G-protein signaling 6							115	130	125					14																	72976895		2203	4300	6503	SO:0001587	stop_gained	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976895G>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.999G>A	14.37:g.72976895G>A	ENSP00000452331:p.Trp333*					RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*	p.W333*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1206	+			333					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Nonsense_Mutation	SNP	ENST00000553530.1	37	c.999G>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	41	8.997171	0.99031	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	.	.	.	5.72	5.72	0.89469	.	0.049272	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7517	20.244	0.98389	0.0:0.0:1.0:0.0	.	.	.	.	X	333;333;333;333;333;333;333;333;333;296;305;264;194;194	.	ENSP00000341199:W296X	W	+	3	0	RGS6	72046648	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	TGG		0.453	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			54	89	0	0	0	1	0	54	89					A	72976895	G	A	72976895	4	1	443	1	0	0	0	0	0	1	0	0	13309	1241	43	2	1049	2	RGS6	14	72976895	Nonsense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		72976895	34372645	33	37459											
ADAMTS7	11173	broad.mit.edu	37	chr15	79060504	79060504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagggctgctcgctgcacttCctctgttggtcatcaggccg	12	14	3	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr15:79060504C>A	ENST00000388820.4	-	17	2826	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2. {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						CGCTGCACTTCCTCTGTTGGT	0.697																																						ENST00000388820.4																			0				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						c.(2614-2616)agG>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							22	23	23					15																	79060504		2190	4289	6479	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79060504C>A	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.2616G>T	15.37:g.79060504C>A	ENSP00000373472:p.Arg872Ser					ADAMTS7_ENST00000566303.1_5'UTR	p.R872S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			17	2826	-			872			TSP type-1 2.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2616G>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252072	0.59212	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.55588	0.51	4.57	3.63	0.41609	.	0.132185	0.50627	D	0.000105	T	0.70544	0.3236	M	0.91249	3.19	0.42420	D	0.992638	B;P	0.52316	0.267;0.952	B;P	0.60789	0.039;0.879	T	0.71414	-0.4600	10	0.59425	D	0.04	.	5.3239	0.15895	0.0:0.6428:0.1677:0.1895	.	448;872	E7EP58;Q9UKP4	.;ATS7_HUMAN	S	872;448	ENSP00000373472:R872S	ENSP00000373472:R872S	R	-	3	2	ADAMTS7	76847559	0.086000	0.21541	0.297000	0.24988	0.592000	0.36648	0.962000	0.29280	0.871000	0.35750	0.471000	0.43371	AGG		0.697	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	9	1	0	6.4e-05	1	7.12453e-05	3	9					A	79060504	C	A	79060504	3	1	443	1	0	0	0	0	1	0	0	0	271	854	30	4	2476	4	ADAMTS7	15	79060504	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		79060504	23470888	34	37460											
TP53	7157	broad.mit.edu	37	chr17	7577093	7577113	+	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	CGGTCTCTCCCAGGACAGGCA	-													gattctcttcctctgtgcgcCggtctctcccaggacaggca					rs28934574|rs17849781|rs121912660|rs587781525		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENST00000269305.4	-	8	1014_1034	c.825_845delTGCCTGTCCTGGGAGAGACCG	c.(823-846)tgtgcctgtcctgggagagaccgg>tgg	p.275_282CACPGRDR>W	TP53_ENST00000420246.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000455263.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000359597.4_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000574684.1_5'Flank	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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 -> L (in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(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)	CTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCA	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		1227	Substitution - Missense(1110)|Deletion - Frameshift(27)|Substitution - coding silent(25)|Substitution - Nonsense(17)|Deletion - In frame(13)|Insertion - Frameshift(12)|Whole gene deletion(8)|Complex - frameshift(5)|Insertion - In frame(4)|Unknown(2)|Complex - insertion inframe(2)|Complex - compound substitution(2)	p.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(1)	large_intestine(205)|lung(135)|upper_aerodigestive_tract(118)|urinary_tract(108)|breast(102)|oesophagus(93)|skin(72)|haematopoietic_and_lymphoid_tissue(72)|ovary(63)|central_nervous_system(56)|stomach(56)|liver(28)|biliary_tract(16)|pancreas(16)|kidney(14)|bone(14)|prostate(13)|endometrium(11)|soft_tissue(7)|vulva(6)|peritoneum(5)|thymus(4)|thyroid(3)|autonomic_ganglia(2)|NS(2)|cervix(1)|eye(1)|genital_tract(1)|vagina(1)|salivary_gland(1)|small_intestine(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	GRCh37	CD963012|CM004343|CM004344|CM011015|CM052927|CM056068|CM056413|CM065496|CM076566|CM920678|CM961376|CM993218	TP53	D|M	rs121912660|rs17849781|rs28934574	c.(823-846)tgg>tg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	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.825_845delTGCCTGTCCTGGGAGAGACCG	17.37:g.7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENSP00000269305:p.Cys275_Arg282delinsTrp	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)				TP53_ENST00000269305.4_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000455263.2_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000445888.2_In_Frame_Del_p.CACPGRDR275del	p.CACPGRDR275del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	957_977	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	In_Frame_Del	DEL	ENST00000269305.4	37	c.825_845delTGCCTGTCCTGGGAGAGACCG	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	16						17	16	---	---	---	---	-	7577113	CGGTCTCTCCCAGGACAGGCA	-	7577093	7	5	443	1	0	1	0	1	0	0	0	0	16378	652	23	0	441	0	TP53	17	7577093	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	TCGA-S9-A7IZ-01A-11D-A34A-08		7577093	73618117	35	37461											
CACNA1G	8913	broad.mit.edu	37	chr17	48649291	48649291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgcccatgctgggcaaCgtcctgctgctctgcttctt	10	15	2	0	rs377421647		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:48649291C>T	ENST00000359106.5	+	5	639	c.639C>T	c.(637-639)aaC>aaT	p.N213N	CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000352832.5_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	213					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)			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)	TGCTGGGCAACGTCCTGCTGC	0.617																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(637-639)aaC>aaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	C	,,,,,,,,,,,,,,	0,4338		0,0,2169	109	110	110		639,639,639,639,639,639,639,639,639,639,639,639,639,639,639	0.1	1	17		110	1,8521		0,1,4260	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,,,,,,,,	0,1,6429	TT,TC,CC		0.0117,0.0,0.0078	,,,,,,,,,,,,,,	213/2378,213/2172,213/2355,213/2274,213/2299,213/2322,213/2262,213/2307,213/2285,213/2333,213/2267,213/2251,213/2244,213/2344,213/1556	48649291	1,12859	2169	4261	6430	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649291C>T	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.639C>T	17.37:g.48649291C>T						CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N|CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000359106.5_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N	p.N213N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	1011	+	Breast(11;6.7e-17)		213					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	Silent	SNP	ENST00000359106.5	37	c.639C>T	CCDS45730.1																																																																																				0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		24	52	0	0	0	1	0	24	52					T	48649291	C	T	48649291	2	4	443	1	0	0	0	0	0	0	0	1	2544	535	19	1		1	CACNA1G	17	48649291	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	41072198	48649291	32545919	36	37462											
ZNF234	10780	broad.mit.edu	37	chr19	44660574	44660574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatttgtcctgccaggttagGgcaggactatatacaactca	10	9	1	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:44660574G>A	ENST00000426739.2	+	6	663	c.405G>A	c.(403-405)agG>agA	p.R135R	ZNF234_ENST00000592437.1_Silent_p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	135	KRNB.				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)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCAGGTTAGGGCAGGACTAT	0.378																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(403-405)agG>agA		zinc finger protein 234							53	55	54					19																	44660574		2061	4218	6279	SO:0001819	synonymous_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660574G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.405G>A	19.37:g.44660574G>A						ZNF234_ENST00000592437.1_Silent_p.R135R	p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	663	+		Prostate(69;0.0435)	135			KRNB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	c.405G>A	CCDS46101.1																																																																																				0.378	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			20	44	0	0	0	1	0	20	44					A	44660574	G	A	44660574	2	1	443	1	0	0	0	0	0	0	0	1	17784	1223	43	2		2	ZNF234	19	44660574	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		44660574	14468409	37	37463											
KIR3DL1	3811	broad.mit.edu	37	chr19	55331320	55331320	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccctcacgcctcgttggaCagatccatgatggggtctcc	10	15	2	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:55331320C>A	ENST00000391728.4	+	4	541	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	170	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTCGTTGGACAGATCCATGA	0.517																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(508-510)Cag>Aag		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							184	169	174					19																	55331320		2187	4193	6380	SO:0001583	missense	3811							g.chr19:55331320C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.508C>A	19.37:g.55331320C>A	ENSP00000375608:p.Gln170Lys					KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K	p.Q170K	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	541	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.508C>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.283	0.051682	0.08291	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06	1.44	-2.88	0.05682	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03220	0.0094	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.27559	0.011;0.003;0.025;0.181	B;B;B;B	0.27170	0.014;0.022;0.04;0.077	T	0.37686	-0.9695	9	0.66056	D	0.02	.	3.7605	0.08602	0.3101:0.4043:0.2856:0.0	.	170;75;170;170	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	K	170;170;170;148;170;170;75	ENSP00000384528:Q170K;ENSP00000443350:Q170K;ENSP00000442355:Q170K;ENSP00000375608:Q170K;ENSP00000326868:Q170K;ENSP00000350901:Q75K	ENSP00000326868:Q170K	Q	+	1	0	KIR3DL1	60023132	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.038000	0.00308	-1.477000	0.01872	-1.398000	0.01145	CAG		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		5	272	1	0	0.0215528	1	0.0219244	5	272					A	55331320	C	A	55331320	3	1	443	1	0	0	0	0	1	0	0	0	8320	479	17	4	522	4	KIR3DL1	19	55331320	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	10670746	55331320	3797663	38	37464											
PAK7	57144	broad.mit.edu	37	chr20	9523285	9523285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccggatcctccgcatcGcctggaggggaggctcattg	14	13	1	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:9523285G>A	ENST00000378429.3	-	10	2498	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	PAK7_ENST00000353224.5_Missense_Mutation_p.A651V|PAK7_ENST00000378423.1_Missense_Mutation_p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	651	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CCTCCGCATCGCCTGGAGGGG	0.507																																						ENST00000378429.3																			0				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						c.(1951-1953)gCg>gTg		p21 protein (Cdc42/Rac)-activated kinase 7							136	134	135					20																	9523285		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9523285G>A	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.1952C>T	20.37:g.9523285G>A	ENSP00000367686:p.Ala651Val					PAK7_ENST00000378423.1_Missense_Mutation_p.A651V|PAK7_ENST00000353224.5_Missense_Mutation_p.A651V	p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		10	2498	-			651			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1952C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443967	0.96187	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	T;T;T	0.66099	-0.19;-0.19;-0.19	5.48	5.48	0.80851	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	0.70859	0.3272	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.67745	-0.5591	9	.	.	.	.	19.3557	0.94412	0.0:0.0:1.0:0.0	.	651	Q9P286	PAK7_HUMAN	V	651	ENSP00000367686:A651V;ENSP00000322957:A651V;ENSP00000367679:A651V	.	A	-	2	0	PAK7	9471285	1.000000	0.71417	0.960000	0.40013	0.861000	0.49209	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GCG		0.507	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			34	81	0	0	0	1	0	34	81					A	9523285	G	A	9523285	3	1	443	1	0	0	0	0	1	0	0	0	11405	1087	38	1	215	1	PAK7	20	9523285	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		9523285	53502235	39	37465											
DIDO1	11083	broad.mit.edu	37	chr20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggcttcatcacctgcGgggcctggccctggaagtga	15	14	2	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				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)					CATCACCTGCGGGGCCTGGCC	0.687																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				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						c.(6046-6048)cCg>cTg		death inducer-obliterator 1							36	47	44					20																	61511261		2177	4264	6441	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511261G>A	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.6047C>T	20.37:g.61511261G>A	ENSP00000266070:p.Pro2016Leu					DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6372	-	Breast(26;5.68e-08)		2016			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6047C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778986	0.16120	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09255	3.0;3.0	4.94	3.92	0.45320	.	1.080270	0.07312	N	0.876107	T	0.09512	0.0234	L	0.36672	1.1	0.19300	N	0.99998	P	0.50819	0.939	B	0.34242	0.178	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.6771	12.2577	0.54633	0.0:0.0:0.7274:0.2726	.	2016	Q9BTC0	DIDO1_HUMAN	L	2016	ENSP00000266070:P2016L;ENSP00000378752:P2016L	ENSP00000266070:P2016L	P	-	2	0	DIDO1	60981706	0.822000	0.29219	0.029000	0.17559	0.088000	0.18126	2.359000	0.44142	2.277000	0.76020	0.561000	0.74099	CCG		0.687	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	158	0	0	0	1	0	4	158					A	61511261	G	A	61511261	3	1	443	1	0	0	0	0	1	0	0	0	4522	1116	39	1	679	1	DIDO1	20	61511261	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	51987976	61511261	1514259	40	37466											
ZBTB46	140685	broad.mit.edu	37	chr20	62422012	62422012	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgccctccacgaccacgcaGacgtcgcacaggacgccgtg	11	17	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:62422012G>T	ENST00000245663.4	-	2	249	c.99C>A	c.(97-99)gtC>gtA	p.V33V	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Silent_p.V33V|ZBTB46_ENST00000395104.1_Silent_p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)					CGACCACGCAGACGTCGCACA	0.587																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(97-99)gtC>gtA		zinc finger and BTB domain containing 46							67	53	58					20																	62422012		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62422012G>T	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.99C>A	20.37:g.62422012G>T						ZBTB46_ENST00000395104.1_Silent_p.V33V|ZBTB46_ENST00000302995.2_Silent_p.V33V	p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	249	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		33			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.99C>A	CCDS13538.1																																																																																				0.587	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		7	30	1	0	0.000274275	1	0.000294222	7	30					T	62422012	G	T	62422012	2	4	443	1	0	0	0	0	0	0	0	1	17544	929	33	4		4	ZBTB46	20	62422012	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	910751	62422012	603508	41	37467											
DIP2A	23181	broad.mit.edu	37	chr21	47918601	47918601	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagccctggctcgaccgggtCattcagggctcgtccacctc	12	16	2	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:47918601C>T	ENST00000417564.2	+	5	531	c.510C>T	c.(508-510)gtC>gtT	p.V170V	DIP2A_ENST00000457905.3_Silent_p.V170V|DIP2A_ENST00000318711.7_Silent_p.V170V|DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	170					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)		TCGACCGGGTCATTCAGGGCT	0.667																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(508-510)gtC>gtT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							75	90	85					21																	47918601		2077	4201	6278	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918601C>T	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.510C>T	21.37:g.47918601C>T						DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V|DIP2A_ENST00000417564.2_Silent_p.V170V|DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000457905.3_Silent_p.V170V	p.V170V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		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)	5	693	+	Breast(49;0.0933)		170					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.510C>T	CCDS46655.1																																																																																				0.667	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		6	91	0	0	0	1	0	6	91					T	47918601	C	T	47918601	2	4	443	1	0	0	0	0	0	0	0	1	4527	813	29	2		2	DIP2A	21	47918601	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		47918601	211294	42	37468											
FGD1	2245	broad.mit.edu	37	chrX	54475673	54475673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttttcccggatgggcGtaggtgcccgcttcccaaga	11	14	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:54475673G>A	ENST00000375135.3	-	15	2910	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGATGGGCGTAGGTGCCCG	0.607																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2176-2178)aCg>aTg		FYVE, RhoGEF and PH domain containing 1							83	62	69					X																	54475673		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54475673G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2177C>T	X.37:g.54475673G>A	ENSP00000364277:p.Thr726Met						p.T726M	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			15	2910	-			726					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2177C>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345124	0.61073	.	.	ENSG00000102302	ENST00000375135	T	0.67171	-0.25	5.0	5.0	0.66597	Zinc finger, FYVE-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.53938	D	0.000046	T	0.74344	0.3704	L	0.39898	1.24	0.42488	D	0.992882	D;D	0.71674	0.996;0.998	P;D	0.67725	0.829;0.953	T	0.75368	-0.3342	10	0.45353	T	0.12	-16.0192	16.3994	0.83633	0.0:0.0:1.0:0.0	.	484;726	B4DS99;P98174	.;FGD1_HUMAN	M	726	ENSP00000364277:T726M	ENSP00000364277:T726M	T	-	2	0	FGD1	54492398	0.980000	0.34600	0.987000	0.45799	0.935000	0.57460	3.162000	0.50755	2.214000	0.71695	0.513000	0.50165	ACG		0.607	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		5	18	0	0	0	1	0	5	18					A	54475673	G	A	54475673	3	1	443	1	0	0	0	0	1	0	0	0	5832	1145	40	1	724	1	FGD1	23	54475673	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		54475673	100794887	43	37469											
ATRX	546	broad.mit.edu	37	chrX	76938929	76938929	+	Frame_Shift_Del	DEL	C	C	-													atctttatcttgtggaacttCctgacaatcagcacctttaa							TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:76938929delC	ENST00000373344.5	-	9	2033	c.1819delG	c.(1819-1821)gaafs	p.E607fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	607					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						TGTGGAACTTCCTGACAATCA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1819-1821)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						197	223	214					X																	76938929		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938929delC	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.1819delG	X.37:g.76938929delC	ENSP00000362441:p.Glu607fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs|ATRX_ENST00000480283.1_5'UTR	p.E607fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2033	-			607					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1819delG	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		173	330						173	330	---	---	---	---	-	76938929	C	-	76938929	7	5	443	1	0	1	0	1	0	0	0	0	1208	864	30	0	5767	0	ATRX	23	76938929	Frame_Shift_Del	DEL	C	TCGA-S9-A7IZ-01A-11D-A34A-08	22463256	76938929	78331631	44	37470											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959361	117959361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttgttctcggggaggGtggtgccagcccaaggggaa	18	7	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:117959361G>T	ENST00000310164.2	+	4	661	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	52					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ctcggggagggtggtgccagc	0.552																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(154-156)Gtg>Ttg		zinc finger, CCHC domain containing 12							72	68	70					X																	117959361		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959361G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.154G>T	X.37:g.117959361G>T	ENSP00000308921:p.Val52Leu						p.V52L	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	661	+			52					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.154G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	5.511	0.279303	0.10458	.	.	ENSG00000174460	ENST00000310164	T	0.09255	3.0	3.09	1.3	0.21679	.	0.294047	0.18547	N	0.138037	T	0.10895	0.0266	M	0.69823	2.125	0.21553	N	0.999649	B	0.12013	0.005	B	0.10450	0.005	T	0.29792	-1.0000	10	0.25751	T	0.34	-2.9209	4.9402	0.13961	0.3044:0.0:0.6956:0.0	.	52	Q6PEW1	ZCH12_HUMAN	L	52	ENSP00000308921:V52L	ENSP00000308921:V52L	V	+	1	0	ZCCHC12	117843389	1.000000	0.71417	0.977000	0.42913	0.755000	0.42902	1.557000	0.36299	0.209000	0.20645	-0.197000	0.12766	GTG		0.552	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		14	70	1	0	1.49906e-05	1	1.70086e-05	14	70					T	117959361	G	T	117959361	3	4	443	1	0	0	0	0	1	0	0	0	17578	1261	44	4	156	4	ZCCHC12	23	117959361	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	41020432	117959361	37311199	45	37471											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298906	125298906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgctggcgctggcgCggatccaggaaggagacgtg	17	9	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:125298906C>T	ENST00000360028.2	-	1	1028	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	DCAF12L2_ENST00000538699.1_Silent_p.P334P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334								p.P334P(1)		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						GGCGCTGGCGCGGATCCAGGA	0.622																																						ENST00000538699.1																			1	Substitution - coding silent(1)	p.P334P(1)	NS(1)	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						c.(1000-1002)ccG>ccA		DDB1 and CUL4 associated factor 12-like 2							60	63	62					X																	125298906		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125298906C>T	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.1002G>A	X.37:g.125298906C>T						DCAF12L2_ENST00000360028.2_Silent_p.P334P	p.P334P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1082	-			334					B2RN42	Silent	SNP	ENST00000360028.2	37	c.1002G>A	CCDS43991.1																																																																																				0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		41	62	0	0	0	1	0	41	62					T	125298906	C	T	125298906	2	4	443	1	0	0	0	0	0	0	0	1	4265	755	27	1		1	DCAF12L2	23	125298906	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	7339545	125298906	29971654	46	37472											
CPSF3L	54973	broad.mit.edu	37	chr1	1250944	1250944	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactttaatctggaacatggCtgcccccagcacgtggcctg	10	14	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:1250944C>G	ENST00000435064.1	-	5	566	c.484G>C	c.(484-486)Gcc>Ccc	p.A162P	CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A168P|CPSF3L_ENST00000421495.2_5'UTR	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	162					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)		TGGAACATGGCTGCCCCCAGC	0.607																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(502-504)Gcc>Ccc		cleavage and polyadenylation specific factor 3-like							116	98	104					1																	1250944		2203	4299	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1250944C>G	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.484G>C	1.37:g.1250944C>G	ENSP00000413493:p.Ala162Pro					CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A162P|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P	p.A168P	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		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)	7	957	-	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)	162					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.502G>C	CCDS21.1	.	.	.	.	.	.	.	.	.	.	c	36	5.894080	0.97074	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000545578;ENST00000526332;ENST00000527719;ENST00000530031	T;T;T;T;T;T;T	0.80033	0.25;0.25;0.25;-1.33;0.41;-1.33;-1.33	4.74	4.74	0.60224	Beta-lactamase-like (2);	0.236415	0.42682	D	0.000674	D	0.93377	0.7888	H	0.97214	3.96	0.80722	D	1	D;D;B;B	0.89917	0.999;1.0;0.206;0.245	D;D;B;B	0.80764	0.987;0.994;0.224;0.075	D	0.94939	0.8089	10	0.48119	T	0.1	-40.5341	17.919	0.88960	0.0:1.0:0.0:0.0	.	64;61;168;162	C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	P	162;64;61;168;133;38;168;209	ENSP00000413493:A162P;ENSP00000404886:A61P;ENSP00000445001:A168P;ENSP00000444672:A133P;ENSP00000434790:A38P;ENSP00000436743:A168P;ENSP00000432009:A209P	ENSP00000400548:A64P	A	-	1	0	CPSF3L	1240807	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.310000	0.78947	2.441000	0.82636	0.457000	0.33378	GCC		0.607	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		4	78	0	0	0	1	0	4	78					G	1250944	C	G	1250944	3	3	444	1	0	0	0	0	1	0	0	0	3827	797	28	4	1370	4	CPSF3L	1	1250944	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		1250944	247999677	1	37473											
PDE4B	5142	broad.mit.edu	37	chr1	66384510	66384510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attgctattacaactgtaagCcaggagtggtgagtagcctc	11	8	0	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:66384510C>G	ENST00000329654.4	+	3	460	c.273C>G	c.(271-273)agC>agG	p.S91R	PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	91					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CAACTGTAAGCCAGGAGTGGT	0.398																																						ENST00000329654.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(271-273)agC>agG		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						87	84	85					1																	66384510		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384510C>G	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.273C>G	1.37:g.66384510C>G	ENSP00000332116:p.Ser91Arg					PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN			3	460	+			91					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.273C>G	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310072	0.23821	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.17054	2.3;2.3;2.3	5.6	5.6	0.85130	.	0.770400	0.12655	N	0.450132	T	0.05090	0.0136	N	0.19112	0.55	0.29818	N	0.831081	B	0.09022	0.002	B	0.11329	0.006	T	0.28332	-1.0047	10	0.25106	T	0.35	.	13.8546	0.63519	0.0:0.8468:0.1532:0.0	.	91	Q07343	PDE4B_HUMAN	R	91	ENSP00000332116:S91R;ENSP00000342637:S91R;ENSP00000360088:S91R	ENSP00000332116:S91R	S	+	3	2	PDE4B	66157098	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.996000	0.40776	2.626000	0.88956	0.650000	0.86243	AGC		0.398	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		16	42	0	0	0	1	0	16	42					G	66384510	C	G	66384510	3	3	444	1	0	0	0	0	1	0	0	0	11640	738	26	4	279	4	PDE4B	1	66384510	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	65133566	66384510	182866111	2	37474											
NRAS	4893	broad.mit.edu	37	chr1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcgcttttcccaacacCacctgctccaaccaccacca	4	20	0	0	rs121434595		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		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)	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		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)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		106	Substitution - Missense(106)	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)	haematopoietic_and_lymphoid_tissue(66)|skin(24)|large_intestine(6)|stomach(4)|thyroid(2)|soft_tissue(1)|urinary_tract(1)|autonomic_ganglia(1)|NS(1)	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						c.(37-39)Ggt>Cgt		neuroblastoma RAS viral (v-ras) oncogene homolog							207	184	192					1																	115258745		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115258745C>G	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.37G>C	1.37:g.115258745C>G	ENSP00000358548:p.Gly13Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.G13R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		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)	2	290	-	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)	13		G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.37G>C	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675403	0.96764	.	.	ENSG00000213281	ENST00000369535	T	0.73575	-0.76	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	D	0.85204	0.5643	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.85665	0.1291	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	R	13	ENSP00000358548:G13R	ENSP00000358548:G13R	G	-	1	0	NRAS	115060268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	71	0	0	0	1	0	55	71					G	115258745	C	G	115258745	3	3	444	1	0	0	0	0	1	0	0	0	10640	594	21	4	548	4	NRAS	1	115258745	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	48874235	115258745	133991876	3	37475											
CD1D	912	broad.mit.edu	37	chr1	158151456	158151456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcatatatttcgggtttaTcgaagcagcttcaccaggga	10	9	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:158151456T>C	ENST00000368171.3	+	3	772	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	91					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTCGGGTTTATCGAAGCAGCT	0.572																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(271-273)taT>taC		CD1d molecule							60	63	62					1																	158151456		2203	4300	6503	SO:0001819	synonymous_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151456T>C	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.273T>C	1.37:g.158151456T>C							p.Y91Y	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	772	+	all_hematologic(112;0.0378)		91					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	ENST00000368171.3	37	c.273T>C	CCDS1173.1																																																																																				0.572	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		33	35	0	0	0	1	0	33	35					C	158151456	T	C	158151456	2	2	444	1	0	0	0	0	0	0	0	1	2977	1442	50	3		3	CD1D	1	158151456	Silent	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	42892711	158151456	91099165	4	37476											
EDARADD	128178	broad.mit.edu	37	chr1	236645901	236645901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctgcgcaggtgggtggaCgaggagtggcccaagcggga	20	8	1	0	rs74942492	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:236645901C>T	ENST00000334232.4	+	6	767	c.600C>T	c.(598-600)gaC>gaT	p.D200D	EDARADD_ENST00000359362.5_Silent_p.D190D	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	200	Death.				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)			GGTGGGTGGACGAGGAGTGGC	0.602													C|||	3	0.000599042	0.0	0.0	5008	,	,		17295	0.003		0.0	False		,,,				2504	0.0					ENST00000359362.5																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12						c.(568-570)gaC>gaT		EDAR-associated death domain		C	,	0,4404		0,0,2202	64	73	70		570,600	-10.9	0.1	1	dbSNP_132	70	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	EDARADD	NM_080738.3,NM_145861.2	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	190/206,200/216	236645901	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236645901C>T	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.600C>T	1.37:g.236645901C>T						EDARADD_ENST00000334232.4_Silent_p.D200D	p.D190D	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	784	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	200			Death.		A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Silent	SNP	ENST00000334232.4	37	c.570C>T	CCDS1610.1																																																																																				0.602	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		51	51	0	0	0	1	0	51	51					T	236645901	C	T	236645901	2	4	444	1	0	0	0	0	0	0	0	1	4906	535	19	1		1	EDARADD	1	236645901	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	78494445	236645901	12604720	5	37477											
C2orf71	388939	broad.mit.edu	37	chr2	29295877	29295877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaacctttgccataggAgcccctgagagcaggcagtc	13	12	0	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:29295877A>G	ENST00000331664.5	-	1	1250	c.1251T>C	c.(1249-1251)gcT>gcC	p.A417A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	417					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCATAGGAGCCCCTGAGA	0.582																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1249-1251)gcT>gcC		chromosome 2 open reading frame 71							85	87	86					2																	29295877		1992	4158	6150	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295877A>G		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1251T>C	2.37:g.29295877A>G							p.A417A	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1250	-			417						Silent	SNP	ENST00000331664.5	37	c.1251T>C	CCDS42669.1																																																																																				0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		34	59	0	0	0	1	0	34	59					G	29295877	A	G	29295877	2	3	444	1	0	0	0	0	0	0	0	1	2191	291	11	3		3	C2orf71	2	29295877	Silent	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08		29295877	213903496	6	37478											
OTX1	5013	broad.mit.edu	37	chr2	63283331	63283331	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgccttcaactctgccgaCtgcttggattacaaggagcc	9	13	2	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:63283331C>G	ENST00000282549.2	+	5	1221	c.945C>G	c.(943-945)gaC>gaG	p.D315E	OTX1_ENST00000366671.3_Missense_Mutation_p.D315E	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|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)	p.D315E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACTCTGCCGACTGCTTGGATT	0.602																																						ENST00000366671.3																			1	Substitution - Missense(1)	p.D315E(1)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(943-945)gaC>gaG		orthodenticle homeobox 1							83	66	72					2																	63283331		2203	4300	6503	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283331C>G		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.945C>G	2.37:g.63283331C>G	ENSP00000282549:p.Asp315Glu					OTX1_ENST00000282549.2_Missense_Mutation_p.D315E	p.D315E	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1221	+	Lung NSC(7;0.121)|all_lung(7;0.211)		315					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.945C>G	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446036	0.43429	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.92911	-3.13;-3.13	4.43	1.3	0.21679	.	0.055730	0.64402	D	0.000002	D	0.87038	0.6078	L	0.52905	1.665	0.43467	D	0.995671	B	0.06786	0.001	B	0.04013	0.001	T	0.82345	-0.0503	10	0.62326	D	0.03	.	5.8794	0.18846	0.1352:0.6447:0.1328:0.0873	.	315	P32242	OTX1_HUMAN	E	315	ENSP00000355631:D315E;ENSP00000282549:D315E	ENSP00000282549:D315E	D	+	3	2	OTX1	63136835	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.935000	0.28924	0.937000	0.37394	0.561000	0.74099	GAC		0.602	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			20	24	0	0	0	1	0	20	24					G	63283331	C	G	63283331	3	3	444	1	0	0	0	0	1	0	0	0	11320	564	20	4	955	4	OTX1	2	63283331	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	33987454	63283331	179916042	7	37479											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	46	1	0	1.02016e-41	1	1.09302e-41	60	46					T	209113113	G	T	209113113	3	4	444	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	145829782	209113113	34086260	8	37480											
B3GNT7	93010	broad.mit.edu	37	chr2	232263162	232263162	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggcgacgatgacgtcttCgtcaaccccaccaacctgct	8	15	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:232263162C>T	ENST00000287590.5	+	2	993	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	244					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)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ATGACGTCTTCGTCAACCCCA	0.567																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(730-732)ttC>ttT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							72	77	76					2																	232263162		2097	4204	6301	SO:0001819	synonymous_variant	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263162C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.732C>T	2.37:g.232263162C>T							p.F244F	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	993	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	244					B3KWY4|B7WNP0	Silent	SNP	ENST00000287590.5	37	c.732C>T	CCDS46540.1																																																																																				0.567	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		5	62	0	0	0	1	0	5	62					T	232263162	C	T	232263162	2	4	444	1	0	0	0	0	0	0	0	1	1262	883	31	1		1	B3GNT7	2	232263162	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	23150049	232263162	10936211	9	37481											
IL5RA	3568	broad.mit.edu	37	chr3	3146598	3146598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccttactcttttcatcaGgaagtaagtcagcttgcagt	9	9	4	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:3146598G>A	ENST00000446632.2	-	3	645	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	24					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)		CTTTTCATCAGGAAGTAAGTC	0.343																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(70-72)cCt>cTt		interleukin 5 receptor, alpha							96	94	95					3																	3146598		2203	4300	6503	SO:0001583	missense	0				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3146598G>A	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.71C>T	3.37:g.3146598G>A	ENSP00000412209:p.Pro24Leu					IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L	p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	3	645	-			24					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.71C>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300242	0.23650	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.87103	-2.21;-2.12;-2.21;1.31;1.59;1.32;1.32;1.32;1.32;1.58	5.6	2.64	0.31445	.	1.078910	0.07163	N	0.851068	D	0.83686	0.5308	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B;B	0.29432	0.016;0.01;0.01;0.006;0.244;0.126	B;B;B;B;B;B	0.25506	0.007;0.016;0.016;0.007;0.061;0.015	T	0.70733	-0.4791	10	0.33940	T	0.23	-3.2806	5.7578	0.18182	0.0893:0.0:0.5629:0.3478	.	24;24;24;24;24;24	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	L	24	ENSP00000412209:P24L;ENSP00000390753:P24L;ENSP00000256452:P24L;ENSP00000388858:P24L;ENSP00000402598:P24L;ENSP00000373358:P24L;ENSP00000309196:P24L;ENSP00000400400:P24L;ENSP00000392059:P24L;ENSP00000398117:P24L	ENSP00000256452:P24L	P	-	2	0	IL5RA	3121598	0.030000	0.19436	0.011000	0.14972	0.024000	0.10985	1.253000	0.32886	1.470000	0.48102	0.650000	0.86243	CCT		0.343	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			29	65	0	0	0	1	0	29	65					A	3146598	G	A	3146598	3	1	444	1	0	0	0	0	1	0	0	0	7700	1000	35	2	1257	2	IL5RA	3	3146598	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		3146598	194875832	10	37482											
CDCP1	64866	broad.mit.edu	37	chr3	45127296	45127296	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaactttgcagttggggccCtggagcatatggtgggtggg	17	8	0	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:45127296C>G	ENST00000296129.1	-	9	2479	c.2345G>C	c.(2344-2346)aGg>aCg	p.R782T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	782						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTTGGGGCCCTGGAGCATAT	0.622																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2344-2346)aGg>aCg		CUB domain containing protein 1							88	84	85					3																	45127296		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127296C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2345G>C	3.37:g.45127296C>G	ENSP00000296129:p.Arg782Thr						p.R782T	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2479	-			782					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2345G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676358	0.47886	.	.	ENSG00000163814	ENST00000296129	T	0.33438	1.41	5.45	3.67	0.42095	.	0.249796	0.43110	D	0.000603	T	0.37679	0.1012	M	0.62723	1.935	0.80722	D	1	P	0.49783	0.928	P	0.47573	0.55	T	0.23190	-1.0195	10	0.66056	D	0.02	.	11.9105	0.52737	0.0:0.8589:0.0:0.1411	.	782	Q9H5V8	CDCP1_HUMAN	T	782	ENSP00000296129:R782T	ENSP00000296129:R782T	R	-	2	0	CDCP1	45102300	0.949000	0.32298	1.000000	0.80357	0.302000	0.27658	0.833000	0.27504	0.687000	0.31509	0.563000	0.77884	AGG		0.622	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		21	22	0	0	0	1	0	21	22					G	45127296	C	G	45127296	3	3	444	1	0	0	0	0	1	0	0	0	3093	681	24	4	169	4	CDCP1	3	45127296	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	41980698	45127296	152895134	11	37483											
CAMKV	79012	broad.mit.edu	37	chr3	49899533	49899533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaccttgcggccgtcccGcttctggaacttcttgcagg	11	16	2	0	rs200718388	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:49899533G>A	ENST00000477224.1	-	3	650	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGGCCGTCCCGCTTCTGGAAC	0.592																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(172-174)Cgg>Tgg		CaM kinase-like vesicle-associated							77	81	79					3																	49899533		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899533G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.172C>T	3.37:g.49899533G>A	ENSP00000419195:p.Arg58Trp					CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W	p.R58W			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	650	-			58			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.172C>T	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602350	0.66445	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000466940	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.05	4.11	0.48088	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	0.38778	N	0.001566	T	0.79464	0.4450	M	0.73430	2.235	0.50039	D	0.999841	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;D	0.72338	0.977;0.903;0.971;0.938	T	0.81658	-0.0833	10	0.87932	D	0	.	12.4184	0.55506	0.0:0.0:0.6725:0.3275	.	58;58;58;58	E7ETR1;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;CAMKV_HUMAN	W	58	ENSP00000296471:R58W;ENSP00000418809:R58W;ENSP00000417614:R58W;ENSP00000419195:R58W;ENSP00000420724:R58W	ENSP00000296471:R58W	R	-	1	2	CAMKV	49874537	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.371000	0.52379	2.522000	0.85027	0.455000	0.32223	CGG		0.592	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		3	17	0	0	0	1	0	3	17					A	49899533	G	A	49899533	3	1	444	1	0	0	0	0	1	0	0	0	2608	1086	38	1	1369	1	CAMKV	3	49899533	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	4772237	49899533	148122897	12	37484											
EVC2	132884	broad.mit.edu	37	chr4	5564756	5564756	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggggccagttcgccaAtgggctccagtgacaggtgt	15	10	0	1	rs200968626		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:5564756A>G	ENST00000344408.5	-	22	3799	c.3746T>C	c.(3745-3747)aTt>aCt	p.I1249T	EVC2_ENST00000310917.2_Missense_Mutation_p.I1169T|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		17428	0.001		0.0	False		,,,				2504	0.0					ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3505-3507)aTt>aCt		Ellis van Creveld syndrome 2							128	136	133					4																	5564756		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564756A>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3746T>C	4.37:g.5564756A>G	ENSP00000342144:p.Ile1249Thr					EVC2_ENST00000344408.5_Missense_Mutation_p.I1249T|EVC2_ENST00000344938.1_Intron	p.I1169T	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4237	-			1249					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3506T>C	CCDS3382.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	5.367	0.252994	0.10185	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74315	-0.82;-0.83	5.17	1.07	0.20283	.	0.632498	0.15662	N	0.250867	T	0.44286	0.1286	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.28459	-1.0043	10	0.05620	T	0.96	-0.0661	2.1295	0.03747	0.5914:0.163:0.0889:0.1567	.	1249	Q86UK5	LBN_HUMAN	T	1169;1249	ENSP00000311683:I1169T;ENSP00000342144:I1249T	ENSP00000311683:I1169T	I	-	2	0	EVC2	5615657	0.001000	0.12720	0.003000	0.11579	0.974000	0.67602	1.411000	0.34702	0.292000	0.22492	0.460000	0.39030	ATT		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		38	142	0	0	0	1	0	38	142					G	5564756	A	G	5564756	3	3	444	1	0	0	0	0	1	0	0	0	5286	101	4	3	184	3	EVC2	4	5564756	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08		5564756	185589520	13	37485											
LRRC66	339977	broad.mit.edu	37	chr4	52861983	52861983	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actttttttgccacagtctgTcaacataaggccttgtgaaa	7	9	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:52861983T>A	ENST00000343457.3	-	4	1211	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	402						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACAGTCTGTCAACATAAGG	0.562																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1204-1206)gAc>gTc		leucine rich repeat containing 66							70	72	72					4																	52861983		1980	4158	6138	SO:0001583	missense	339977					integral to membrane		g.chr4:52861983T>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1205A>T	4.37:g.52861983T>A	ENSP00000341944:p.Asp402Val						p.D402V	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1211	-			402						Missense_Mutation	SNP	ENST00000343457.3	37	c.1205A>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018748	0.35606	.	.	ENSG00000188993	ENST00000343457	T	0.55234	0.53	4.67	4.67	0.58626	.	0.000000	0.46145	D	0.000313	T	0.65863	0.2732	M	0.63843	1.955	0.49483	D	0.999797	D	0.76494	0.999	D	0.74023	0.982	T	0.68629	-0.5358	10	0.87932	D	0	-26.2144	8.7923	0.34859	0.0:0.0:0.1901:0.8099	.	402	Q68CR7	LRC66_HUMAN	V	402	ENSP00000341944:D402V	ENSP00000341944:D402V	D	-	2	0	LRRC66	52556740	0.331000	0.24713	0.990000	0.47175	0.005000	0.04900	1.117000	0.31234	1.870000	0.54199	0.383000	0.25322	GAC		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		10	68	0	0	0	1	0	10	68					A	52861983	T	A	52861983	3	1	444	1	0	0	0	0	1	0	0	0	9018	1667	58	5	1441	5	LRRC66	4	52861983	Missense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	47297227	52861983	138292293	14	37486											
CTNND2	1501	broad.mit.edu	37	chr5	11411675	11411675	+	Frame_Shift_Del	DEL	C	C	-													tgtagaataatcctgtgggtCaagtattcctgattcctgta							TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:11411675delC	ENST00000304623.8	-	5	601	c.412delG	c.(412-414)gacfs	p.D138fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	138					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)				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						TCCTGTGGGTCAAGTATTCCT	0.373																																						ENST00000304623.8																			0				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						c.(412-414)acfs		catenin (cadherin-associated protein), delta 2							151	141	145					5																	11411675		2203	4300	6503	SO:0001589	frameshift_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411675delC	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.412delG	5.37:g.11411675delC	ENSP00000307134:p.Asp138fs					CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000458100.2_5'UTR	p.D138fs	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			5	601	-			138					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Frame_Shift_Del	DEL	ENST00000304623.8	37	c.412delG	CCDS3881.1																																																																																				0.373	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		50	53						50	53	---	---	---	---	-	11411675	C	-	11411675	7	5	444	1	0	1	0	1	0	0	0	0	4020	826	29	0	3337	0	CTNND2	5	11411675	Frame_Shift_Del	DEL	C	TCGA-S9-A7J0-01A-11D-A34A-08		11411675	169503585	15	37487											
SLC4A9	83697	broad.mit.edu	37	chr5	139740529	139740529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgtactgctggactgCccagctcagagcctcctgga	12	14	1	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:139740529C>T	ENST00000230993.6	+	2	470	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000506545.1_Silent_p.C121C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	145					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)			TGCTGGACTGCCCAGCTCAGA	0.657																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(433-435)tgC>tgT		solute carrier family 4, sodium bicarbonate cotransporter, member 9							11	13	12					5																	139740529		1927	4123	6050	SO:0001819	synonymous_variant	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139740529C>T	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.435C>T	5.37:g.139740529C>T						SLC4A9_ENST00000506545.1_Silent_p.C121C|SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C	p.C145C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	470	+			145					B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	ENST00000230993.6	37	c.435C>T	CCDS58973.1																																																																																				0.657	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		7	4	0	0	0	1	0	7	4					T	139740529	C	T	139740529	2	4	444	1	0	0	0	0	0	0	0	1	14660	747	26	2		2	SLC4A9	5	139740529	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	128328854	139740529	41174731	16	37488											
PCDHA8	56140	broad.mit.edu	37	chr5	140222719	140222719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgactcgggctacaacGcgtggctttcgtatgagctg	13	12	0	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:140222719G>A	ENST00000531613.1	+	1	1813	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	605	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)			GGGCTACAACGCGTGGCTTTC	0.677																																						ENST00000531613.1																			0				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						c.(1813-1815)Gcg>Acg									82	81	82					5																	140222719		2197	4268	6465	SO:0001583	missense	0							g.chr5:140222719G>A	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.1813G>A	5.37:g.140222719G>A	ENSP00000434655:p.Ala605Thr					PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A605T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1813	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1813G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709354	0.68615	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.22134	1.97;1.97	3.75	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.000000	0.36444	U	0.002584	T	0.58850	0.2151	H	0.96604	3.85	0.32470	N	0.542978	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.77416	-0.2596	10	0.87932	D	0	.	12.6566	0.56791	0.0:0.0:0.8343:0.1657	.	605;605	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	605	ENSP00000434655:A605T;ENSP00000367363:A605T	ENSP00000367363:A605T	A	+	1	0	PCDHA8	140202903	0.926000	0.31397	0.988000	0.46212	0.208000	0.24298	3.345000	0.52182	1.793000	0.52555	0.313000	0.20887	GCG		0.677	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		31	46	0	0	0	1	0	31	46					A	140222719	G	A	140222719	3	1	444	1	0	0	0	0	1	0	0	0	11530	1087	38	1	1815	1	PCDHA8	5	140222719	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	482190	140222719	40692541	17	37489											
FAT2	2196	broad.mit.edu	37	chr5	150946625	150946625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaagattgataaaagggCgtttgagggatatcactccg	12	6	1	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:150946625C>T	ENST00000261800.5	-	1	1880	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	623	Cadherin 5. {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)			GATAAAAGGGCGTTTGAGGGA	0.403																																						ENST00000261800.5																			0				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						c.(1867-1869)cGc>cAc		FAT atypical cadherin 2							104	106	105					5																	150946625		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946625C>T	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.1868G>A	5.37:g.150946625C>T	ENSP00000261800:p.Arg623His						p.R623H	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1880	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	623			Cadherin 5.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1868G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117192	0.20795	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.127249	0.39759	N	0.001277	T	0.64638	0.2616	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.62609	-0.6818	10	0.41790	T	0.15	.	5.4328	0.16463	0.1553:0.6372:0.1324:0.0751	.	623	Q9NYQ8	FAT2_HUMAN	H	623	ENSP00000261800:R623H	ENSP00000261800:R623H	R	-	2	0	FAT2	150926818	0.349000	0.24870	0.190000	0.23270	0.413000	0.31143	1.633000	0.37113	2.793000	0.96121	0.655000	0.94253	CGC		0.403	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		33	46	0	0	0	1	0	33	46					T	150946625	C	T	150946625	3	4	444	1	0	0	0	0	1	0	0	0	5690	768	27	1	11273	1	FAT2	5	150946625	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	10723906	150946625	29968635	18	37490											
MGAT1	4245	broad.mit.edu	37	chr5	180219007	180219007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtcaaagaactgcCcgtggctcacacccttgcgg	13	13	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:180219007C>T	ENST00000446023.2	-	3	1715	c.965G>A	c.(964-966)gGg>gAg	p.G322E	MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	322					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGAACTGCCCGTGGCTCAC	0.602																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(964-966)gGg>gAg		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							75	82	79					5																	180219007		2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219007C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.965G>A	5.37:g.180219007C>T	ENSP00000404718:p.Gly322Glu					MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E	p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1715	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	322					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.965G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730523	0.69074	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.05	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.94528	0.8238	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94629	0.7820	10	0.87932	D	0	-35.5149	11.6246	0.51138	0.0:0.9118:0.0:0.0882	.	322	P26572	MGAT1_HUMAN	E	322;322;322;322;179;322	ENSP00000332073:G322E;ENSP00000311888:G322E;ENSP00000404718:G322E;ENSP00000377010:G322E;ENSP00000402838:G322E	ENSP00000311888:G322E	G	-	2	0	MGAT1	180151613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.996000	0.76263	1.264000	0.44198	-0.140000	0.14226	GGG		0.602	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		15	48	0	0	0	1	0	15	48					T	180219007	C	T	180219007	3	4	444	1	0	0	0	0	1	0	0	0	9542	623	22	2	376	2	MGAT1	5	180219007	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	29272382	180219007	696253	19	37491											
MDC1	9656	broad.mit.edu	37	chr6	30673766	30673766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaaggggagaaagaaggGgcggaggtgcaagatgtttc	18	3	0	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:30673766G>A	ENST00000376406.3	-	10	3841	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	MDC1_ENST00000376405.2_Missense_Mutation_p.P801L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1065	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						AGAAAGAAGGGGCGGAGGTGC	0.547								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3193-3195)cCc>cTc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							107	118	114					6																	30673766		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673766G>A	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.3194C>T	6.37:g.30673766G>A	ENSP00000365588:p.Pro1065Leu					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P801L	p.P1065L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	3841	-			1065	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3194C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	g	16.34	3.096185	0.56075	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02737	4.3;4.18	4.71	1.89	0.25635	.	0.726145	0.11375	N	0.570393	T	0.01523	0.0049	L	0.27053	0.805	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.59056	0.851;0.738	T	0.48422	-0.9037	10	0.15066	T	0.55	0.5111	6.8484	0.24000	0.3012:0.0:0.6988:0.0	.	801;1065	Q14676-2;Q14676	.;MDC1_HUMAN	L	1065;801;1065;672	ENSP00000365588:P1065L;ENSP00000365587:P801L	ENSP00000365587:P801L	P	-	2	0	MDC1	30781745	0.003000	0.15002	0.104000	0.21259	0.242000	0.25591	1.071000	0.30666	0.606000	0.29965	0.444000	0.29173	CCC		0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		73	97	0	0	0	1	0	73	97					A	30673766	G	A	30673766	3	1	444	1	0	0	0	0	1	0	0	0	9403	1232	43	2	3099	2	MDC1	6	30673766	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		30673766	140441301	20	37492											
BAT2	7916	broad.mit.edu	37	chr6	31604007	31604007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcccctatacctaccCcccggcccagcccctccctc	4	25	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:31604007C>T	ENST00000376033.2	+	26	5880	c.5646C>T	c.(5644-5646)ccC>ccT	p.P1882P	PRRC2A_ENST00000376007.4_Silent_p.P1882P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1882						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						TATACCTACCCCCCGGCCCAG	0.522																																						ENST00000376033.2																			0				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						c.(5644-5646)ccC>ccT		proline-rich coiled-coil 2A							109	147	134					6																	31604007		1506	2708	4214	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31604007C>T	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.5646C>T	6.37:g.31604007C>T						PRRC2A_ENST00000376007.4_Silent_p.P1882P	p.P1882P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			26	5880	+			1882					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.5646C>T	CCDS4708.1																																																																																				0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		73	71	0	0	0	1	0	73	71					T	31604007	C	T	31604007	2	4	444	1	0	0	0	0	0	0	0	1	1319	610	22	2		2	BAT2	6	31604007	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	930241	31604007	139511060	21	37493											
C6orf222	389384	broad.mit.edu	37	chr6	36297863	36297863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggtccgctcacccctgCgagctgggcccaggtcagcc	13	18	2	0	rs140939742	byFrequency	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:36297863C>T	ENST00000437635.2	-	2	782	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	202										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCACCCCTGCGAGCTGGGCC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		15492	0.002		0.0	False		,,,				2504	0.0					ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(604-606)cGc>cAc		chromosome 6 open reading frame 222							54	54	54					6																	36297863		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36297863C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.605G>A	6.37:g.36297863C>T	ENSP00000418983:p.Arg202His						p.R202H	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	782	-			202					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.605G>A	CCDS34439.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	6.716	0.500824	0.12822	.	.	ENSG00000189325	ENST00000437635	T	0.43294	0.95	4.35	-2.72	0.05968	.	1.683590	0.03348	N	0.195779	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11792	-1.0573	10	0.19590	T	0.45	-40.4977	1.8305	0.03129	0.1222:0.3918:0.1581:0.3279	.	202	P0C671	CF222_HUMAN	H	202	ENSP00000418983:R202H	ENSP00000418983:R202H	R	-	2	0	C6orf222	36405841	0.000000	0.05858	0.001000	0.08648	0.206000	0.24218	-1.632000	0.02024	-0.340000	0.08388	-0.497000	0.04613	CGC		0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		4	91	0	0	0	1	0	4	91					T	36297863	C	T	36297863	3	4	444	1	0	0	0	0	1	0	0	0	2356	768	27	1	1397	1	C6orf222	6	36297863	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	4693856	36297863	134817204	22	37494											
TAAR2	9287	broad.mit.edu	37	chr6	132938561	132938561	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatcactattcctaaagtttTggcagcttttttgtctttct	5	8	3	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:132938561T>A	ENST00000367931.1	-	2	783	c.784A>T	c.(784-786)Aaa>Taa	p.K262*	TAAR2_ENST00000275191.2_Nonsense_Mutation_p.K217*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	262					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)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTAAAGTTTTGGCAGCTTTT	0.328																																						ENST00000275191.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23						c.(649-651)Aaa>Taa		trace amine associated receptor 2							57	47	51					6																	132938561		2203	4300	6503	SO:0001587	stop_gained	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938561T>A	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.784A>T	6.37:g.132938561T>A	ENSP00000356908:p.Lys262*					TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*|TAAR2_ENST00000367931.1_Nonsense_Mutation_p.K262*	p.K217*	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	1	756	-	Breast(56;0.135)		262					Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Nonsense_Mutation	SNP	ENST00000367931.1	37	c.649A>T	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	T	37	6.302159	0.97458	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	.	.	.	6.1	6.1	0.99115	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.709	16.686	0.85306	0.0:0.0:0.0:1.0	.	.	.	.	X	217;262;217	.	ENSP00000275191:K217X	K	-	1	0	TAAR2	132980254	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.210000	0.72176	2.340000	0.79590	0.528000	0.53228	AAA		0.328	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		12	63	0	0	0	1	0	12	63					A	132938561	T	A	132938561	4	1	444	1	0	0	0	0	0	1	0	0	15487	1821	63	5	275	5	TAAR2	6	132938561	Nonsense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	96640698	132938561	38176506	23	37495											
TIAM2	26230	broad.mit.edu	37	chr6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaacagggggtggtccGgaaggccgggtggctcttct	19	8	2	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		GGGGTGGTCCGGAAGGCCGGG	0.542																																						ENST00000461783.3																			0				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						c.(1522-1524)cGg>cAg		T-cell lymphoma invasion and metastasis 2							65	70	68					6																	155458639		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458639G>A		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.1523G>A	6.37:g.155458639G>A	ENSP00000437188:p.Arg508Gln					TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q	p.R508Q			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2796	+		Ovarian(120;0.196)	508			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1523G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737056	0.96865	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.84890	0.0836	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	508;508	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	508;754;508;508;508;508;508	ENSP00000437188:R508Q;ENSP00000434901:R508Q;ENSP00000407746:R508Q;ENSP00000327315:R508Q;ENSP00000353528:R508Q;ENSP00000433348:R508Q	ENSP00000327315:R508Q	R	+	2	0	TIAM2	155500331	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGG		0.542	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		3	70	0	0	0	1	0	3	70					A	155458639	G	A	155458639	3	1	444	1	0	0	0	0	1	0	0	0	15888	1116	39	1	1529	1	TIAM2	6	155458639	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	22520078	155458639	15656428	24	37496											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	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.Q73Q(1)		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)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	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.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	21	0	0	0	1	0	3	21					A	170871043	G	A	170871043	2	1	444	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	15412404	170871043	244024	25	37497											
ABCB5	340273	broad.mit.edu	37	chr7	20685472	20685472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaatccgaacagtcataGcctttagggcccaggagaaa	9	11	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:20685472G>A	ENST00000404938.2	+	8	1424	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000258738.6_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	258	ABC transmembrane type-1 1. {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						AACAGTCATAGCCTTTAGGGC	0.408																																						ENST00000404938.2																			0				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						c.(772-774)Gcc>Acc		ATP-binding cassette, sub-family B (MDR/TAP), member 5							151	140	144					7																	20685472		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20685472G>A	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.772G>A	7.37:g.20685472G>A	ENSP00000384881:p.Ala258Thr						p.A258T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			8	1424	+			444			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.772G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915337	0.73098	.	.	ENSG00000004846	ENST00000404938	D	0.91843	-2.92	4.79	2.97	0.34412	.	.	.	.	.	D	0.93943	0.8061	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92467	0.5982	9	0.54805	T	0.06	.	8.017	0.30387	0.0848:0.0:0.7559:0.1593	.	258	A7BKA4	.	T	258	ENSP00000384881:A258T	ENSP00000384881:A258T	A	+	1	0	ABCB5	20651997	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	5.824000	0.69279	0.920000	0.36970	0.655000	0.94253	GCC		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		48	49	0	0	0	1	0	48	49					A	20685472	G	A	20685472	3	1	444	1	0	0	0	0	1	0	0	0	44	971	34	2	798	2	ABCB5	7	20685472	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		20685472	138453191	26	37498											
CRHR2	1395	broad.mit.edu	37	chr7	30693147	30693147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagggatggacatggcccGggccatggggactcgaaggg	19	8	0	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:30693147G>A	ENST00000471646.1	-	12	1582	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	389					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.R375R(1)|p.R389R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACATGGCCCGGGCCATGGGG	0.657																																						ENST00000471646.1																			2	Substitution - coding silent(2)	p.R375R(1)|p.R389R(1)	large_intestine(2)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1165-1167)Cgg>Tgg		corticotropin releasing hormone receptor 2							155	139	144					7																	30693147		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693147G>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1165C>T	7.37:g.30693147G>A	ENSP00000418722:p.Arg389Trp					CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W|CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000506074.2_3'UTR	p.R389W	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			12	1582	-			389					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1165C>T	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699689	0.68501	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.46451	0.87;1.01;0.88	4.49	2.58	0.30949	.	0.210998	0.40064	N	0.001196	T	0.60130	0.2245	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	P;D;D;P	0.70487	0.901;0.969;0.944;0.88	T	0.59268	-0.7486	10	0.72032	D	0.01	.	7.4062	0.26991	0.093:0.0:0.7298:0.1772	.	388;416;375;389	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	W	389;416;375	ENSP00000418722:R389W;ENSP00000340943:R416W;ENSP00000344304:R375W	ENSP00000344304:R375W	R	-	1	2	CRHR2	30659672	0.992000	0.36948	0.968000	0.41197	0.925000	0.55904	2.415000	0.44635	0.377000	0.24735	0.467000	0.42956	CGG		0.657	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			15	103	0	0	0	1	0	15	103					A	30693147	G	A	30693147	3	1	444	1	0	0	0	0	1	0	0	0	3872	1115	39	1	74	1	CRHR2	7	30693147	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	10007675	30693147	128445516	27	37499											
AUTS2	26053	broad.mit.edu	37	chr7	69364317	69364317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgtggagaaacgccagAcgcccctgaccaagaagaaa	11	11	0	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:69364317A>G	ENST00000342771.4	+	2	676	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A|AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	119										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)		GAAACGCCAGACGCCCCTGAC	0.483																																						ENST00000342771.4																			0				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						c.(355-357)Acg>Gcg		autism susceptibility candidate 2							100	91	94					7																	69364317		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364317A>G	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.355A>G	7.37:g.69364317A>G	ENSP00000344087:p.Thr119Ala					AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A|AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A	p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	676	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	119					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.355A>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112586	0.56398	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.28895	1.59;1.59	5.65	4.47	0.54385	.	0.208514	0.33401	N	0.004947	T	0.13072	0.0317	N	0.08118	0	0.21105	N	0.999782	B;B;P	0.42692	0.019;0.019;0.787	B;B;B	0.36134	0.033;0.033;0.218	T	0.08868	-1.0701	9	.	.	.	-9.4281	8.0038	0.30313	0.7922:0.1382:0.0697:0.0	.	119;119;119	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	A	119	ENSP00000385263:T119A;ENSP00000344087:T119A	.	T	+	1	0	AUTS2	69002253	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.574000	0.53863	1.119000	0.41883	0.533000	0.62120	ACG		0.483	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			30	27	0	0	0	1	0	30	27					G	69364317	A	G	69364317	3	3	444	1	0	0	0	0	1	0	0	0	1225	275	10	3	361	3	AUTS2	7	69364317	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	38671170	69364317	89774346	28	37500											
CYP51A1	1595	broad.mit.edu	37	chr7	91747893	91747893	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtctaagtcttaatgtttCttttatacagcgatcaagta	7	6	4	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:91747893C>A	ENST00000003100.8	-	8	1288	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	369					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|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)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTTAATGTTTCTTTTATACAG	0.353																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1123-1125)Gaa>Taa		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						124	125	124					7																	91747893		2203	4299	6502	SO:0001587	stop_gained	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91747893C>A	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1123G>T	7.37:g.91747893C>A	ENSP00000003100:p.Glu375*					CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*|LRRD1_ENST00000422722.1_5'UTR	p.E375*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1288	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		369					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Nonsense_Mutation	SNP	ENST00000003100.8	37	c.1123G>T	CCDS5623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.701936|4.701936	0.88924|0.88924	.|.	.|.	ENSG00000001630|ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723|ENST00000422867	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74550	.|0.3731	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73861	.|-0.3849	.|4	0.87932|.	D|.	0|.	.|.	18.6928|18.6928	0.91589|0.91589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	375;315;270|115	.|.	ENSP00000003100:E375X|.	E|R	-|-	1|2	0|0	CYP51A1|CYP51A1	91585829|91585829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.583000|7.583000	0.82559|0.82559	2.468000|2.468000	0.83385|0.83385	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.353	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			45	56	1	0	2.81731e-22	1	2.97603e-22	45	56					A	91747893	C	A	91747893	4	1	444	1	0	0	0	0	0	1	0	0	4195	922	32	4	418	4	CYP51A1	7	91747893	Nonsense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	22383576	91747893	67390770	29	37501											
SLC26A4	5172	broad.mit.edu	37	chr7	107312617	107312617	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctactagctgcagttcctgtCggatatggtctctactctgc	9	12	2	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:107312617C>T	ENST00000265715.3	+	4	563	c.339C>T	c.(337-339)gtC>gtT	p.V113V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	113					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						CAGTTCCTGTCGGATATGGTC	0.378									Pendred syndrome																													ENST00000265715.3																			0				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						c.(337-339)gtC>gtT		solute carrier family 26 (anion exchanger), member 4							270	223	239					7																	107312617		2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107312617C>T	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.339C>T	7.37:g.107312617C>T							p.V113V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			4	563	+			113					B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.339C>T	CCDS5746.1																																																																																				0.378	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		97	67	0	0	0	1	0	97	67					T	107312617	C	T	107312617	2	4	444	1	0	0	0	0	0	0	0	1	14519	871	31	1		1	SLC26A4	7	107312617	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	15564724	107312617	51826046	30	37502											
CDH17	1015	broad.mit.edu	37	chr8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgactggagaaacgtgggtcGattgtcgttgatgtccttca	13	7	1	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1. {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)	p.R123*(1)		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)			AACGTGGGTCGATTGTCGTTG	0.493																																						ENST00000027335.3																			1	Substitution - Nonsense(1)	p.R123*(1)	ovary(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(367-369)Cga>Tga		cadherin 17, LI cadherin (liver-intestine)							255	214	228					8																	95188826		2203	4300	6503	SO:0001587	stop_gained	1015					integral to membrane	calcium ion binding	g.chr8:95188826G>A	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.367C>T	8.37:g.95188826G>A	ENSP00000027335:p.Arg123*					CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*	p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	491	-	Breast(36;4.65e-06)		123			Cadherin 1.		Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	c.367C>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102552	0.56183	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	.	.	.	5.93	4.08	0.47627	.	0.399497	0.19197	N	0.120300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-3.2735	14.2229	0.65839	0.0:0.0:0.7275:0.2725	.	.	.	.	X	123	.	ENSP00000027335:R123X	R	-	1	2	CDH17	95258002	0.712000	0.27916	0.831000	0.32960	0.020000	0.10135	1.568000	0.36418	0.792000	0.33850	-0.182000	0.12963	CGA		0.493	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		34	54	0	0	0	1	0	34	54					A	95188826	G	A	95188826	4	1	444	1	0	0	0	0	0	1	0	0	3102	1066	37	1	2187	1	CDH17	8	95188826	Nonsense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		95188826	51175196	31	37503											
GLIS3	169792	broad.mit.edu	37	chr9	4118146	4118146	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagggagcggaggcgcgggGggtaggtctacggtgctgcc	23	8	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:4118146G>T	ENST00000324333.10	-	3	1060	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GLIS3_ENST00000381971.3_Silent_p.P444P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	289	Pro-rich.				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)		gaggcgcggggggTAGGTCTA	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(865-867)ccC>ccA		GLIS family zinc finger 3							6	8	8					9																	4118146		1727	3520	5247	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118146G>T	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.867C>A	9.37:g.4118146G>T						GLIS3_ENST00000381971.3_Silent_p.P444P	p.P289P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1060	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	289			Pro-rich.		B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.867C>A	CCDS6451.1																																																																																				0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		9	0	1	0	2.17888e-05	1	2.23857e-05	9	0					T	4118146	G	T	4118146	2	4	444	1	0	0	0	0	0	0	0	1	6447	1219	43	4		4	GLIS3	9	4118146	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		4118146	137095285	32	37504											
RECK	8434	broad.mit.edu	37	chr9	36091312	36091315	+	Frame_Shift_Del	DEL	CTTA	CTTA	-													gccagttgggctgtagaaacCttacttactgtactaatttt					rs372176214		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:36091312_36091315delCTTA	ENST00000377966.3	+	10	1623_1626	c.1057_1060delCTTA	c.(1057-1062)cttactfs	p.LT353fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	353					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTGTAGAAACCTTACTTACTGTAC	0.343																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(1057-1062)ctfs		reversion-inducing-cysteine-rich protein with kazal motifs																																				SO:0001589	frameshift_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36091312_36091315delCTTA	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1057_1060delCTTA	9.37:g.36091316_36091319delCTTA	ENSP00000367202:p.Leu353fs						p.LT353fs	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		10	1623_1626	+			353					B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Del	DEL	ENST00000377966.3	37	c.1057_1060delCTTA	CCDS6597.1																																																																																				0.343	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			54	76						54	76	---	---	---	---	-	36091315	CTTA	-	36091312	7	5	444	1	0	1	0	1	0	0	0	0	13200	681	24	0	1095	0	RECK	9	36091312	Frame_Shift_Del	DEL	CTTA	TCGA-S9-A7J0-01A-11D-A34A-08	31973166	36091312	105122119	33	37505											
DBC1	1620	broad.mit.edu	37	chr9	121929632	121929632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactggttgacctgctgcacTgcactgcgcaggaggtcggc	15	12	0	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:121929632T>C	ENST00000265922.3	-	8	2477	c.2016A>G	c.(2014-2016)gcA>gcG	p.A672A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	672					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.A672A(1)									CCTGCTGCACTGCACTGCGCA	0.542																																						ENST00000265922.3																			1	Substitution - coding silent(1)	p.A672A(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2014-2016)gcA>gcG									167	155	159					9																	121929632		2203	4300	6503	SO:0001819	synonymous_variant	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929632T>C	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2016A>G	9.37:g.121929632T>C						DBC1_ENST00000482797.1_Intron	p.A672A	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2477	-			672					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.2016A>G	CCDS6822.1																																																																																				0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		54	92	0	0	0	1	0	54	92					C	121929632	T	C	121929632	2	2	444	1	0	0	0	0	0	0	0	1	4247	1567	55	3		3	DBC1	9	121929632	Silent	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	85838320	121929632	19283799	34	37506											
USP54	159195	broad.mit.edu	37	chr10	75294484	75294484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagggatagctctccgTtgaggaatctgttcgagtgt	13	6	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:75294484T>C	ENST00000339859.4	-	11	1289	c.1189A>G	c.(1189-1191)Acg>Gcg	p.T397A	USP54_ENST00000319786.7_Missense_Mutation_p.T397A|USP54_ENST00000428547.1_Missense_Mutation_p.T247A|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	397					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)					TAGCTCTCCGTTGAGGAATCT	0.463																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(1189-1191)Acg>Gcg		ubiquitin specific peptidase 54							161	152	155					10																	75294484		1921	4134	6055	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75294484T>C	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.1189A>G	10.37:g.75294484T>C	ENSP00000345216:p.Thr397Ala					USP54_ENST00000319786.7_Missense_Mutation_p.T397A|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron|USP54_ENST00000428547.1_Missense_Mutation_p.T247A	p.T397A			Q70EL1	UBP54_HUMAN			11	1289	-	Prostate(51;0.0112)		397					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.1189A>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042535	0.75732	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.25414	1.83;1.83;1.8	5.39	4.27	0.50696	.	.	.	.	.	T	0.17874	0.0429	L	0.38175	1.15	0.34516	D	0.7076	B;B;B	0.18968	0.007;0.005;0.032	B;B;B	0.17722	0.007;0.007;0.019	T	0.16335	-1.0406	9	0.07482	T	0.82	-3.4455	10.8774	0.46919	0.0:0.0734:0.0:0.9266	.	397;397;397	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	A	397;397;247;397	ENSP00000345216:T397A;ENSP00000386080:T397A;ENSP00000408714:T247A	ENSP00000326547:T397A	T	-	1	0	USP54	74964490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.159000	0.71856	0.913000	0.36797	0.529000	0.55759	ACG		0.463	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		15	41	0	0	0	1	0	15	41					C	75294484	T	C	75294484	3	2	444	1	0	0	0	0	1	0	0	0	17082	1725	60	3	3917	3	USP54	10	75294484	Missense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08		75294484	60240263	35	37507											
SYCE1	93426	broad.mit.edu	37	chr10	135369378	135369378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacagctgatgcttcaCgtcttccagtgtcgccttga	11	12	2	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:135369378C>T	ENST00000343131.5	-	10	729	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M|SYCE1_ENST00000368517.3_Missense_Mutation_p.V173M	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	209					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGATGCTTCACGTCTTCCAGT	0.597																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(517-519)Gtg>Atg		synaptonemal complex central element protein 1							87	81	83					10																	135369378		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135369378C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.625G>A	10.37:g.135369378C>T	ENSP00000341282:p.Val209Met					SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.V209M|SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M	p.V173M	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	10	655	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	209					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.517G>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	c	11.73	1.725375	0.30593	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.49432	0.92;0.78;0.78;3.15	4.38	3.49	0.39957	.	0.442422	0.21540	N	0.072920	T	0.62551	0.2437	M	0.65975	2.015	0.20563	N	0.999884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.973;0.998;0.998	T	0.51276	-0.8726	10	0.62326	D	0.03	-19.8919	8.6618	0.34097	0.0:0.8978:0.0:0.1022	.	81;209;173	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	M	209;173;173;209	ENSP00000303978:V209M;ENSP00000411779:V173M;ENSP00000357503:V173M;ENSP00000341282:V209M	ENSP00000303978:V209M	V	-	1	0	SYCE1	135219368	0.594000	0.26849	0.832000	0.32986	0.018000	0.09664	0.743000	0.26231	1.459000	0.47892	-0.119000	0.15052	GTG		0.597	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		8	11	0	0	0	1	0	8	11					T	135369378	C	T	135369378	3	4	444	1	0	0	0	0	1	0	0	0	15425	536	19	1	489	1	SYCE1	10	135369378	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	60074894	135369378	165369	36	37508											
MICAL2	9645	broad.mit.edu	37	chr11	12231056	12231056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtagaaattggctggcGggcagaatttctccctacag	12	10	1	2	rs527945154		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:12231056G>A	ENST00000256194.4	+	6	890	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	201	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|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)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTGGCTGGCGGGCAGAATTT	0.507																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(601-603)cGg>cAg		microtubule associated monooxygenase, calponin and LIM domain containing 2							120	121	120					11																	12231056		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12231056G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.602G>A	11.37:g.12231056G>A	ENSP00000256194:p.Arg201Gln					MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q	p.R201Q	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	6	890	+			201					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.602G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558655	0.96514	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.84156	2.68	0.58432	D	0.999999	D;D;D;D;P	0.89917	1.0;1.0;0.998;1.0;0.916	D;D;P;P;B	0.81914	0.971;0.995;0.567;0.908;0.315	D	0.97814	1.0252	10	0.87932	D	0	.	18.7472	0.91797	0.0:0.0:1.0:0.0	.	201;201;201;201;201	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	Q	201	ENSP00000441689:R201Q;ENSP00000256194:R201Q;ENSP00000433965:R201Q;ENSP00000344894:R201Q;ENSP00000368932:R201Q	ENSP00000256194:R201Q	R	+	2	0	MICAL2	12187632	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.786000	0.85741	2.755000	0.94549	0.557000	0.71058	CGG		0.507	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		38	15	0	0	0	1	0	38	15					A	12231056	G	A	12231056	3	1	444	1	0	0	0	0	1	0	0	0	9570	1116	39	1	616	1	MICAL2	11	12231056	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		12231056	122775460	37	37509											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaggaagtctgctgCggccaagttgaggatgtaga	17	5	1	3	rs567589026		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(208-210)Gca>Aca		MAS-related GPR, member X1							130	129	130					11																	18956124		2194	4285	6479	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956124C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"GPCR / Class A : Orphans"	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.208G>A	11.37:g.18956124C>T	ENSP00000305766:p.Ala70Thr					MRGPRX1_ENST00000526914.1_5'UTR	p.A70T	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	432	-			70					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.208G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	8.032	0.762028	0.15914	.	.	ENSG00000170255	ENST00000302797	T	0.19938	2.11	2.43	-2.54	0.06307	GPCR, rhodopsin-like superfamily (1);	2.339570	0.01866	N	0.036909	T	0.28995	0.0720	M	0.80422	2.495	0.09310	N	1	P	0.44260	0.83	B	0.42386	0.386	T	0.34976	-0.9807	10	0.52906	T	0.07	.	5.023	0.14370	0.0:0.3685:0.2965:0.335	.	70	Q96LB2	MRGX1_HUMAN	T	70	ENSP00000305766:A70T	ENSP00000305766:A70T	A	-	1	0	MRGPRX1	18912700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.567000	0.05916	-1.096000	0.03046	-1.579000	0.00862	GCA		0.532	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		50	106	0	0	0	1	0	50	106					T	18956124	C	T	18956124	3	4	444	1	0	0	0	0	1	0	0	0	9766	768	27	1	764	1	MRGPRX1	11	18956124	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	6725068	18956124	116050392	38	37510											
PANX3	116337	broad.mit.edu	37	chr11	124489721	124489721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgttgaaggatacaaccAcccagaagcacaatattgac	9	9	0	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:124489721A>G	ENST00000284288.2	+	4	1136	c.1069A>G	c.(1069-1071)Acc>Gcc	p.T357A		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	357					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)		GGATACAACCACCCAGAAGCA	0.433																																						ENST00000284288.2																			0				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						c.(1069-1071)Acc>Gcc		pannexin 3							143	124	131					11																	124489721		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489721A>G	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.1069A>G	11.37:g.124489721A>G	ENSP00000284288:p.Thr357Ala						p.T357A	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1136	+	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)	357						Missense_Mutation	SNP	ENST00000284288.2	37	c.1069A>G	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	A	8.801	0.932871	0.18131	.	.	ENSG00000154143	ENST00000284288	T	0.16597	2.33	5.4	1.63	0.23807	.	0.795369	0.11914	N	0.517318	T	0.04861	0.0131	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.08837	T	0.75	-3.5034	4.8	0.13292	0.5487:0.1566:0.2947:0.0	.	357	Q96QZ0	PANX3_HUMAN	A	357	ENSP00000284288:T357A	ENSP00000284288:T357A	T	+	1	0	PANX3	123994931	0.000000	0.05858	0.778000	0.31720	0.875000	0.50365	-0.011000	0.12721	0.370000	0.24538	0.459000	0.35465	ACC		0.433	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			46	65	0	0	0	1	0	46	65					G	124489721	A	G	124489721	3	3	444	1	0	0	0	0	1	0	0	0	11422	159	6	3	1083	3	PANX3	11	124489721	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	105533597	124489721	10516795	39	37511											
EP400	57634	broad.mit.edu	37	chr12	132551995	132551995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagaaggccatccagccCcaggctgcacagggcccggc	13	17	0	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132551995C>T	ENST00000333577.4	+	51	9055	c.8946C>T	c.(8944-8946)ccC>ccT	p.P2982P	EP400_ENST00000330386.6_Silent_p.P2865P|EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000389562.2_Silent_p.P2945P|EP400_ENST00000389561.2_Silent_p.P2946P			Q96L91	EP400_HUMAN	E1A binding protein p400	2982					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCATCCAGCCCCAGGCTGCAC	0.652																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8944-8946)ccC>ccT		E1A binding protein p400							44	51	49					12																	132551995		2202	4297	6499	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132551995C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8946C>T	12.37:g.132551995C>T						EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000330386.6_Silent_p.P2865P|EP400_ENST00000389561.2_Silent_p.P2946P|EP400_ENST00000389562.2_Silent_p.P2945P	p.P2982P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	51	9055	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2982					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8946C>T																																																																																					0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	57	0	0	0	1	0	7	57					T	132551995	C	T	132551995	2	4	444	1	0	0	0	0	0	0	0	1	5149	610	22	2		2	EP400	12	132551995	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		132551995	1299900	40	37512											
MYH6	4624	broad.mit.edu	37	chr14	23857416	23857416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcattggagCgctctacgtccaccatcaag	10	14	2	0	rs142556730		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:23857416C>T	ENST00000356287.3	-	29	4336	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1436H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1436					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)		AGCATTGGAGCGCTCTACGTC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19277	0.001		0.0	False		,,,				2504	0.0					ENST00000405093.3																			0				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						c.(4306-4308)cGc>cAc		myosin, heavy chain 6, cardiac muscle, alpha		C	HIS/ARG	0,4406		0,0,2203	152	145	147		4307	4.6	1	14	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH6	NM_002471.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1436/1940	23857416	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23857416C>T	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.4307G>A	14.37:g.23857416C>T	ENSP00000348634:p.Arg1436His					MYH6_ENST00000356287.3_Missense_Mutation_p.R1436H	p.R1436H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	30	4377	-	all_cancers(95;2.54e-05)		1436					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4307G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	32	5.181215	0.94846	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.83992	-1.79;-1.79	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.91747	0.7390	M	0.86028	2.79	0.58432	D	0.999997	D	0.71674	0.998	D	0.71414	0.973	D	0.93329	0.6699	9	0.87932	D	0	.	17.8925	0.88877	0.0:1.0:0.0:0.0	.	1436	P13533	MYH6_HUMAN	H	1436	ENSP00000386041:R1436H;ENSP00000348634:R1436H	ENSP00000348634:R1436H	R	-	2	0	MYH6	22927256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.500000	0.81588	2.292000	0.77174	0.561000	0.74099	CGC		0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			20	92	0	0	0	1	0	20	92					T	23857416	C	T	23857416	3	4	444	1	0	0	0	0	1	0	0	0	10038	768	27	1	1552	1	MYH6	14	23857416	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		23857416	83492124	41	37513											
C14orf43	91748	broad.mit.edu	37	chr14	74188154	74188154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccctcttgggctccagcCtctcttcacttggggactct	8	17	4	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:74188154C>A	ENST00000286523.5	-	11	3565	c.2783G>T	c.(2782-2784)aGg>aTg	p.R928M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R928M	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	928					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGGCTCCAGCCTCTCTTCACT	0.587																																						ENST00000286523.5																			0											c.(2782-2784)aGg>aTg		ELM2 and Myb/SANT-like domain containing 1							62	60	61					14																	74188154		2203	4300	6503	SO:0001583	missense	91748							g.chr14:74188154C>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2783G>T	14.37:g.74188154C>A	ENSP00000286523:p.Arg928Met					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R928M	p.R928M	NM_194278.3	NP_919254.2					11	3565	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.2783G>T	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082042	0.55861	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.88	4.88	0.63580	.	0.315716	0.26126	N	0.026196	T	0.23649	0.0572	N	0.08118	0	0.38392	D	0.94543	D;D	0.55385	0.971;0.971	P;P	0.49561	0.615;0.615	T	0.16335	-1.0406	10	0.49607	T	0.09	-19.6068	13.5206	0.61566	0.0:1.0:0.0:0.0	.	928;928	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	928	ENSP00000377634:R928M;ENSP00000286523:R928M;ENSP00000407767:R928M;ENSP00000402380:R928M	ENSP00000286523:R928M	R	-	2	0	C14orf43	73257907	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	3.549000	0.53681	2.255000	0.74692	0.555000	0.69702	AGG		0.587	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		12	12	1	0	3.07112e-06	1	3.19908e-06	12	12					A	74188154	C	A	74188154	3	1	444	1	0	0	0	0	1	0	0	0	1774	681	24	4	362	4	C14orf43	14	74188154	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	50330738	74188154	33161386	42	37514											
C15orf40	83640	broad.mit.edu	37	chr15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcaggaatacctgaaacGccctcctgagtctcctccaa	7	14	2	2	rs150238339		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA	NM_031452.3	NP_113640.1	Q9BTL3	RAM_HUMAN	family with sequence similarity 103, member A1	32	Interaction with RNMT.				7-methylguanosine mRNA capping (GO:0006370)|methylation (GO:0032259)|recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex (GO:0036031)	mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15950	0.0		0.001	False		,,,				2504	0.0					ENST00000304191.3																			0				prostate(1)	1						c.(94-96)cGc>cAc		family with sequence similarity 103, member A1		G	,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	49	51	50		411,95	2.7	1	15	dbSNP_134	50	22,8572	14.6+/-50.1	0,22,4275	no	coding-synonymous,missense	FAM103A1,C15orf40	NM_001160116.1,NM_031452.2	,29	0,23,6476	AA,AG,GG		0.256,0.0227,0.177	,benign	137/150,32/119	83657865	23,12975	2202	4297	6499	SO:0001583	missense	83640							g.chr15:83657865G>A	CR597724	CCDS10321.1	15q25.2	2012-06-13			ENSG00000169612	ENSG00000169612			31022	protein-coding gene	gene with protein product	"RNMT-activating mini protein"	614547				22099306	Standard	NM_031452		Approved	HsT19360, C15orf18, MGC2560, RAM	uc002bjl.2	Q9BTL3	OTTHUMG00000147357	ENST00000304191.3:c.95G>A	15.37:g.83657865G>A	ENSP00000307181:p.Arg32His					C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA	p.R32H	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN			3	316	+			32					Q2M1J8	Missense_Mutation	SNP	ENST00000304191.3	37	c.95G>A	CCDS10321.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.24	2.773689	0.49786	2.27E-4	0.00256	ENSG00000169612	ENST00000304191	.	.	.	5.71	2.72	0.32119	.	0.058637	0.64402	D	0.000001	T	0.45458	0.1343	L	0.48362	1.52	0.80722	D	1	B	0.31100	0.308	B	0.26202	0.067	T	0.41161	-0.9524	9	0.52906	T	0.07	-2.2431	8.2725	0.31853	0.1376:0.0:0.7362:0.1263	.	32	Q9BTL3	F103A_HUMAN	H	32	.	ENSP00000307181:R32H	R	+	2	0	FAM103A1	81448869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.913000	0.56394	0.728000	0.32382	0.655000	0.94253	CGC		0.428	FAM103A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304001.1	NM_031452		35	25	0	0	0	1	0	35	25					A	83657865	G	A	83657865	3	1	444	1	0	0	0	0	1	0	0	0	1794	1087	38	1	42	1	C15orf40	15	83657865	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		83657865	18873527	43	37515											
CHD2	1106	broad.mit.edu	37	chr15	93522490	93522490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accactggccggacgatcctGgaaaacaactcaggaaggtc	11	12	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:93522490G>A	ENST00000394196.4	+	22	3921	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L	CHD2_ENST00000557381.1_Silent_p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	951					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACGATCCTGGAAAACAACT	0.458																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2851-2853)ctG>ctA		chromodomain helicase DNA binding protein 2							130	125	127					15																	93522490		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93522490G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2853G>A	15.37:g.93522490G>A						CHD2_ENST00000557381.1_Silent_p.L951L	p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		22	3921	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		951					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.2853G>A	CCDS10374.2																																																																																				0.458	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	121	0	0	0	1	0	4	121					A	93522490	G	A	93522490	2	1	444	1	0	0	0	0	0	0	0	1	3325	1335	47	2		2	CHD2	15	93522490	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	9864625	93522490	9008902	44	37516											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		67	6	0	0	0	1	0	67	6					T	7578413	C	T	7578413	3	4	444	1	0	0	0	0	1	0	0	0	16378	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		7578413	73616797	45	37517											
CCDC144A	9720	broad.mit.edu	37	chr17	16610781	16610781	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgtttggattttgcAgcagaacaagactcggagct	11	7	0	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:16610781A>G	ENST00000360524.8	+	4	740		c.e4-1		CCDC144A_ENST00000443444.2_Splice_Site|RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000340621.5_Intron|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000436374.1_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TGGATTTTGCAGCAGAACAAG	0.313																																						ENST00000443444.2																			0											c.e4-1		coiled-coil domain containing 144A							58	51	53					17																	16610781		1829	4088	5917	SO:0001630	splice_region_variant	9720							g.chr17:16610781A>G	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.665-1A>G	17.37:g.16610781A>G						RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000340621.5_Intron|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site|CCDC144A_ENST00000436374.1_Splice_Site				A2RUR9	C144A_HUMAN			4	804	+								O60311|Q6ZU57	Splice_Site	SNP	ENST00000360524.8	37		CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	2.100	-0.406271	0.04832	.	.	ENSG00000170160	ENST00000420937;ENST00000399273;ENST00000436374;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.25586	N	0.986741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4477	0.16546	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC144A	16551506	0.298000	0.24417	0.024000	0.17045	0.025000	0.11179	3.195000	0.51013	0.789000	0.33779	0.147000	0.16070	.		0.313	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		Intron	17	15	0	0	0	1	0	17	15					G	16610781	A	G	16610781	5	3	444	1	0	0	0	0	0	0	1	0	2777	202	7	3	677	3	CCDC144A	17	16610781	Splice_Site	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	9032368	16610781	64584429	46	37518											
FKBP10	60681	broad.mit.edu	37	chr17	39969425	39969425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctggaagatgtggtcatcGagaggtaccacatccccagg	12	12	1	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:39969425G>A	ENST00000321562.4	+	1	243	c.139G>A	c.(139-141)Gag>Aag	p.E47K	LEPREL4_ENST00000393928.1_5'Flank|LEPREL4_ENST00000355468.3_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	47					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)		TGTGGTCATCGAGAGGTACCA	0.642																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(139-141)Gag>Aag		FK506 binding protein 10, 65 kDa							54	58	57					17																	39969425		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39969425G>A	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.139G>A	17.37:g.39969425G>A	ENSP00000317232:p.Glu47Lys						p.E47K	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	243	+		Breast(137;0.00122)	47					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.139G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202845	0.79127	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352	T	0.50001	0.76	5.4	5.4	0.78164	.	0.147182	0.42682	D	0.000676	T	0.38427	0.1040	L	0.50333	1.59	0.80722	D	1	P	0.40875	0.731	B	0.28011	0.085	T	0.30621	-0.9972	10	0.16896	T	0.51	-15.1973	18.7916	0.91975	0.0:0.0:1.0:0.0	.	47	Q96AY3	FKB10_HUMAN	K	47	ENSP00000317232:E47K	ENSP00000269598:E47K	E	+	1	0	FKBP10	37222951	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.610000	0.82949	2.533000	0.85409	0.561000	0.74099	GAG		0.642	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		48	52	0	0	0	1	0	48	52					A	39969425	G	A	39969425	3	1	444	1	0	0	0	0	1	0	0	0	5902	1059	37	1	141	1	FKBP10	17	39969425	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	23358644	39969425	41225785	47	37519											
CACNA1G	8913	broad.mit.edu	37	chr17	48703992	48703992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggagggctccgtccagCgactccaaggatcccttggc	14	14	0	0	rs367861396		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:48703992C>T	ENST00000359106.5	+	38	7014	c.7014C>T	c.(7012-7014)agC>agT	p.S2338S	CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000352832.5_Silent_p.S2211S|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000503485.1_Silent_p.S2211S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507336.1_Silent_p.S2327S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000507609.1_Silent_p.S2238S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					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.S2338R(2)|p.S2304R(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)	CTCCGTCCAGCGACTCCAAGG	0.637											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		14669	0.0		0.0	False		,,,				2504	0.0					ENST00000352832.5																			3	Substitution - Missense(3)	p.S2338R(2)|p.S2304R(1)	kidney(3)	breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6631-6633)agC>agT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	C	,,,,,,,,,,,,,	2,3878		0,2,1938	29	35	33		7014,6396,6945,6702,6777,6846,6666,6801,6735,6879,6681,6633,6612,6912	0.6	1	17		33	0,8240		0,0,4120	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	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	,,,,,,,,,,,,,	0,2,6058	TT,TC,CC		0.0,0.0515,0.0165	,,,,,,,,,,,,,	2338/2378,2132/2172,2315/2355,2234/2274,2259/2299,2282/2322,2222/2262,2267/2307,2245/2285,2293/2333,2227/2267,2211/2251,2204/2244,2304/2344	48703992	2,12118	1940	4120	6060	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703992C>T	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.7014C>T	17.37:g.48703992C>T			OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000503485.1_Silent_p.S2211S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000359106.5_Silent_p.S2338S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000507609.1_Silent_p.S2238S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507336.1_Silent_p.S2327S	p.S2211S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	7005	+	Breast(11;6.7e-17)		2338					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	Silent	SNP	ENST00000359106.5	37	c.6633C>T	CCDS45730.1																																																																																				0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		7	25	0	0	0	1	0	7	25					T	48703992	C	T	48703992	2	4	444	1	0	0	0	0	0	0	0	1	2544	767	27	1		1	CACNA1G	17	48703992	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	8734567	48703992	32491218	48	37520											
KIF2B	84643	broad.mit.edu	37	chr17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcagcgggaaaagcGcaggcggctgcagcaggaga	19	9	0	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					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 nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(487-489)cGc>cAc		kinesin family member 2B							56	60	59					17																	51900882		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900882G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.488G>A	17.37:g.51900882G>A	ENSP00000268919:p.Arg163His						p.R163H	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	644	+			163					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.488G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047774	0.75846	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.79352	-1.26	5.52	5.52	0.82312	.	0.140402	0.29152	N	0.012982	T	0.81054	0.4743	L	0.58810	1.83	0.40800	D	0.983339	D	0.64830	0.994	P	0.53062	0.717	T	0.82950	-0.0203	10	0.66056	D	0.02	.	12.7587	0.57350	0.0801:0.0:0.9198:0.0	.	163	Q8N4N8	KIF2B_HUMAN	H	163;86	ENSP00000268919:R163H	ENSP00000268919:R163H	R	+	2	0	KIF2B	49255881	0.630000	0.27155	0.995000	0.50966	0.815000	0.46073	3.824000	0.55723	2.739000	0.93911	0.655000	0.94253	CGC		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		22	59	0	0	0	1	0	22	59					A	51900882	G	A	51900882	3	1	444	1	0	0	0	0	1	0	0	0	8298	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	3196890	51900882	29294328	49	37521											
MUC16	94025	broad.mit.edu	37	chr19	8973984	8973984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccaccttgtcctggatGtccctcagcagggtgatgta	11	13	1	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:8973984G>A	ENST00000397910.4	-	76	42890	c.42687C>T	c.(42685-42687)gaC>gaT	p.D14229D	MUC16_ENST00000380951.5_Silent_p.D870D|MUC16_ENST00000596956.1_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14292				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						TGTCCTGGATGTCCCTCAGCA	0.498																																						ENST00000397910.4																			0				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						c.(42685-42687)gaC>gaT		mucin 16, cell surface associated							107	110	109					19																	8973984		1995	4162	6157	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8973984G>A	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.42687C>T	19.37:g.8973984G>A						MUC16_ENST00000380951.5_Silent_p.D870D	p.D14229D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42890	-			14292	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.42687C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	1.659	-0.512057	0.04200	.	.	ENSG00000181143	ENST00000542240	.	.	.	4.46	3.42	0.39159	.	.	.	.	.	T	0.49047	0.1534	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58115	-0.7693	3	.	.	.	.	8.4565	0.32901	0.1079:0.0:0.8921:0.0	.	.	.	.	I	1052	.	.	T	-	2	0	MUC16	8834984	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.030000	0.41108	1.240000	0.43803	0.609000	0.83330	ACA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	6	0	0	0	1	0	3	6					A	8973984	G	A	8973984	2	1	444	1	0	0	0	0	0	0	0	1	9973	1368	48	2		2	MUC16	19	8973984	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		8973984	50154999	50	37522											
ZNF799	90576	broad.mit.edu	37	chr19	12501697	12501697	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctttcttacatgtgttacaCtcataaggtttctctcctgt	6	10	3	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:12501697C>A	ENST00000430385.3	-	4	1715	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E473D	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	505					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						ATGTGTTACACTCATAAGGTT	0.393																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1417-1419)gaG>gaT		zinc finger protein 799							95	99	98					19																	12501697		2202	4300	6502	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501697C>A	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.1515G>T	19.37:g.12501697C>A	ENSP00000411084:p.Glu505Asp					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E505D	p.E473D			Q96GE5	ZN799_HUMAN			4	2168	-			505						Missense_Mutation	SNP	ENST00000430385.3	37	c.1419G>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310868	0.40895	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22134	1.97;1.97	1.14	-1.35	0.09114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24812	0.0602	L	0.52206	1.635	0.20074	N	0.999934	P	0.50156	0.932	P	0.55391	0.775	T	0.15549	-1.0433	9	0.59425	D	0.04	.	0.501	0.00579	0.1991:0.3285:0.1998:0.2725	.	505	Q96GE5	ZN799_HUMAN	D	473;505	ENSP00000415278:E473D;ENSP00000411084:E505D	ENSP00000415278:E473D	E	-	3	2	ZNF799	12362697	0.000000	0.05858	0.019000	0.16419	0.388000	0.30384	-2.539000	0.00937	-0.519000	0.06444	0.195000	0.17529	GAG		0.393	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	121	1	0	0.150653	1	0.152689	4	121					A	12501697	C	A	12501697	3	1	444	1	0	0	0	0	1	0	0	0	18163	564	20	4	420	4	ZNF799	19	12501697	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	3527713	12501697	46627286	51	37523											
PRX	57716	broad.mit.edu	37	chr19	40902215	40902215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttttggcagctgcacctCggggagtcgaacctctggca	13	12	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:40902215C>T	ENST00000324001.7	-	7	2314	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	682	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCACCTCGGGGAGTCGA	0.582																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2044-2046)Gag>Aag		periaxin							86	97	94					19																	40902215		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902215C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2044G>A	19.37:g.40902215C>T	ENSP00000326018:p.Glu682Lys					PRX_ENST00000291825.7_3'UTR	p.E682K	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2314	-			682			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2044G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575839	0.45902	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02121	4.44	4.09	3.06	0.35304	.	0.000000	0.40385	N	0.001114	T	0.01905	0.0060	L	0.41824	1.3	0.80722	D	1	P	0.37594	0.601	B	0.26517	0.07	T	0.62567	-0.6827	10	0.41790	T	0.15	-16.0737	8.5728	0.33581	0.0:0.8086:0.0:0.1913	.	682	Q9BXM0	PRAX_HUMAN	K	682	ENSP00000326018:E682K	ENSP00000326018:E682K	E	-	1	0	PRX	45594055	0.001000	0.12720	0.705000	0.30386	0.986000	0.74619	0.158000	0.16422	1.110000	0.41699	-0.143000	0.13931	GAG		0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		59	130	0	0	0	1	0	59	130					T	40902215	C	T	40902215	3	4	444	1	0	0	0	0	1	0	0	0	12642	893	31	1	2345	1	PRX	19	40902215	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	28400518	40902215	18226768	52	37524											
SLC8A2	6543	broad.mit.edu	37	chr19	47944425	47944425	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaggtgacttcactcaCcttgattgagtagcagagct	10	11	2	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:47944425C>T	ENST00000236877.6	-	6	2281		c.e6+1		SLC8A2_ENST00000601757.1_Splice_Site|SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2						blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACTTCACTCACCTTGATTGAG	0.577																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.e6+1		solute carrier family 8 (sodium/calcium exchanger), member 2							80	79	79					19																	47944425		2203	4300	6503	SO:0001630	splice_region_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47944425C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1885+1G>A	19.37:g.47944425C>T						SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site		NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	6	2281	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)						B4DYQ9	Splice_Site	SNP	ENST00000236877.6	37		CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166740	0.57476	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1601	0.37016	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC8A2	52636237	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.291000	0.59025	1.864000	0.54056	0.299000	0.19835	.		0.577	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		Intron	18	61	0	0	0	1	0	18	61					T	47944425	C	T	47944425	5	4	444	1	0	0	0	0	0	0	1	0	14707	521	18	2	899	2	SLC8A2	19	47944425	Splice_Site	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	7042210	47944425	11184558	53	37525											
PARD6B	84612	broad.mit.edu	37	chr20	49366587	49366587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaagtttcagggaagagCcttgatcaagtaacagacat	10	6	2	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:49366587C>T	ENST00000371610.2	+	3	924	c.681C>T	c.(679-681)agC>agT	p.S227S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	227	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAGGGAAGAGCCTTGATCAAG	0.428																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(679-681)agC>agT		par-6 family cell polarity regulator beta							115	109	111					20																	49366587		2203	4300	6503	SO:0001819	synonymous_variant	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366587C>T	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.681C>T	20.37:g.49366587C>T						PARD6B_ENST00000396039.1_Intron	p.S227S	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			3	924	+			227			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	c.681C>T	CCDS33485.1																																																																																				0.428	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		45	63	0	0	0	1	0	45	63					T	49366587	C	T	49366587	2	4	444	1	0	0	0	0	0	0	0	1	11446	738	26	2		2	PARD6B	20	49366587	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		49366587	13658933	54	37526											
PTK6	5753	broad.mit.edu	37	chr20	62164937	62164937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatggccacctggacccGgtctttccagagcccctcga	9	16	1	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:62164937G>A	ENST00000217185.2	-	4	664	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	ACCTGGACCCGGTCTTTCCAG	0.657																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(637-639)Cgg>Tgg		protein tyrosine kinase 6							77	81	80					20																	62164937		2203	4300	6503	SO:0001583	missense	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62164937G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.637C>T	20.37:g.62164937G>A	ENSP00000217185:p.Arg213Trp					PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	p.R213W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		4	664	-	all_cancers(38;2.51e-11)		213			Protein kinase.		B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	c.637C>T	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.387025	0.61956	.	.	ENSG00000101213	ENST00000217185;ENST00000542869	D;D	0.89485	-2.52;-2.52	4.32	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.908743	0.09000	U	0.863199	D	0.90000	0.6878	M	0.70108	2.13	0.09310	N	1	D	0.58620	0.983	P	0.48227	0.571	T	0.80233	-0.1467	10	0.87932	D	0	.	11.1106	0.48230	0.0:0.0:0.4919:0.508	.	213	Q13882	PTK6_HUMAN	W	213;112	ENSP00000217185:R213W;ENSP00000442460:R112W	ENSP00000217185:R213W	R	-	1	2	PTK6	61635381	0.000000	0.05858	0.977000	0.42913	0.875000	0.50365	0.424000	0.21330	0.780000	0.33566	0.486000	0.48141	CGG		0.657	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			14	68	0	0	0	1	0	14	68					A	62164937	G	A	62164937	3	1	444	1	0	0	0	0	1	0	0	0	12764	1115	39	1	738	1	PTK6	20	62164937	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	12798350	62164937	860583	55	37527											
ARHGAP6	395	broad.mit.edu	37	chrX	11157235	11157235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatccaggctgccgctgcCgcgggcttccctgggcccgg	16	16	0	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:11157235C>T	ENST00000337414.4	-	13	3545	c.2673G>A	c.(2671-2673)gcG>gcA	p.A891A	ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	891					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|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)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCCGCTGCCGCGGGCTTCC	0.701																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2671-2673)gcG>gcA		Rho GTPase activating protein 6							7	7	7					X																	11157235		1916	3830	5746	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157235C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2673G>A	X.37:g.11157235C>T						ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	p.A891A	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3545	-			891					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2673G>A	CCDS14140.1																																																																																				0.701	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		6	11	0	0	0	1	0	6	11					T	11157235	C	T	11157235	2	4	444	1	0	0	0	0	0	0	0	1	887	639	23	1		1	ARHGAP6	23	11157235	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		11157235	144113325	56	37528											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	8						8	8	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	444	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-S9-A7J0-01A-11D-A34A-08	40082061	51239296	104031264	57	37529											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				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)	p.Q58L(2)		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)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	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	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	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.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	34	0	0	0	1	0	3	34					T	66765161	A	T	66765161	3	4	444	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	15525865	66765161	88505399	58	37530											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352828	83352828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaactccagatatcacaaGcagcatcatatccctgttgc	5	13	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:83352828G>A	ENST00000262752.2	-	19	1812	c.1805C>T	c.(1804-1806)gCt>gTt	p.A602V	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	602	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						GATATCACAAGCAGCATCATA	0.318																																						ENST00000262752.2																			0				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						c.(1804-1806)gCt>gTt		ribosomal protein S6 kinase, 90kDa, polypeptide 6							135	130	132					X																	83352828		2203	4294	6497	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83352828G>A	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.1805C>T	X.37:g.83352828G>A	ENSP00000262752:p.Ala602Val					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V|RPS6KA6_ENST00000495332.1_5'UTR	p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			19	1812	-			602			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1805C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215020	0.95104	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.44083	0.93;0.93	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);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.66131	-0.6000	10	0.87932	D	0	.	18.392	0.90486	0.0:0.0:1.0:0.0	.	602;602	B7ZL90;Q9UK32	.;KS6A6_HUMAN	V	602	ENSP00000262752:A602V;ENSP00000440830:A602V	ENSP00000262752:A602V	A	-	2	0	RPS6KA6	83239484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.682000	0.84083	2.284000	0.76573	0.600000	0.82982	GCT		0.318	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		6	172	0	0	0	1	0	6	172					A	83352828	G	A	83352828	3	1	444	1	0	0	0	0	1	0	0	0	13655	971	34	2	448	2	RPS6KA6	23	83352828	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	16587667	83352828	71917732	59	37531											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-													ctcacaccaatcttttcttcTatgagttgccgagcatagtc					rs369776228		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1327-1329)afs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428470_78428471delTA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	p.I443fs			Q96AE4	FUBP1_HUMAN			14	1415_1416	-			443			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1328_1329delTA	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		37	35						37	35	---	---	---	---	-	78428471	TA	-	78428470	7	5	445	1	0	1	0	1	0	0	0	0	6092	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-S9-A7J1-01A-21D-A34J-08		78428470	170822151	1	37532											
EFNA3	1944	broad.mit.edu	37	chr1	155058898	155058898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccacagaagactttgAgggagagaaccctcaggtgc	12	10	2	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:155058898A>G	ENST00000368408.3	+	5	666	c.596A>G	c.(595-597)gAg>gGg	p.E199G	EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G|EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	199					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGACTTTGAGGGAGAGAAC	0.637											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(595-597)gAg>gGg		ephrin-A3							78	75	76					1																	155058898		2203	4300	6503	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058898A>G	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"Ephrins"	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.596A>G	1.37:g.155058898A>G	ENSP00000357393:p.Glu199Gly		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G	p.E199G	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	666	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		199					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.596A>G	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	A	7.573	0.667233	0.14710	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.96232	-3.5;-3.47;-3.95;-3.5	4.34	1.91	0.25777	.	0.140815	0.46442	N	0.000290	T	0.79034	0.4378	N	0.08118	0	0.33655	D	0.608996	B;P;B	0.37864	0.028;0.61;0.056	B;B;B	0.32393	0.004;0.145;0.054	T	0.74447	-0.3662	10	0.40728	T	0.16	-14.2644	4.7814	0.13204	0.7385:0.0:0.0954:0.1661	.	173;194;199	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	G	194;199;173;194	ENSP00000450814:E194G;ENSP00000357393:E199G;ENSP00000391370:E173G;ENSP00000426741:E194G	ENSP00000357393:E199G	E	+	2	0	RP11-540D14.8;EFNA3	153325522	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	3.864000	0.56024	0.267000	0.21916	-0.464000	0.05259	GAG		0.637	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		19	38	0	0	0	1	0	19	38					G	155058898	A	G	155058898	3	3	445	1	0	0	0	0	1	0	0	0	4952	304	11	3	614	3	EFNA3	1	155058898	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08	76630428	155058898	94191723	2	37533											
UAP1	6675	broad.mit.edu	37	chr1	162560139	162560139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggtatatgaagtattgcGagaagatgagttttccccac	11	6	0	4	rs146235126		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:162560139G>A	ENST00000367925.1	+	7	1228	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q|UAP1_ENST00000271469.3_Missense_Mutation_p.R399Q|UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|RP11-359K18.4_ENST00000609669.1_RNA			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	399					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)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAGTATTGCGAGAAGATGAG	0.398																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1195-1197)cGa>cAa		UDP-N-acteylglucosamine pyrophosphorylase 1		G	GLN/ARG	0,4406		0,0,2203	181	177	178		1196	4	1	1	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense	UAP1	NM_003115.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	399/506	162560139	1,13005	2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162560139G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1196G>A	1.37:g.162560139G>A	ENSP00000356902:p.Arg399Gln					UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q|UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367925.1_Missense_Mutation_p.R399Q	p.R399Q			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		8	1498	+	all_hematologic(112;0.115)		399					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.1196G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656695	0.88154	0.0	1.16E-4	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.93	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	H	0.95950	3.745	0.58432	D	0.999997	D	0.76494	0.999	P	0.58130	0.833	T	0.76724	-0.2854	9	0.87932	D	0	-16.1581	12.3546	0.55167	0.0819:0.0:0.9181:0.0	.	399	Q16222-2	.	Q	399	ENSP00000356903:R399Q;ENSP00000271469:R399Q;ENSP00000356902:R399Q;ENSP00000356901:R399Q	ENSP00000271469:R399Q	R	+	2	0	UAP1	160826763	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.440000	0.97547	1.321000	0.45227	-0.119000	0.15052	CGA		0.398	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		8	128	0	0	0	1	0	8	128					A	162560139	G	A	162560139	3	1	445	1	0	0	0	0	1	0	0	0	16822	1058	37	1	1222	1	UAP1	1	162560139	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	7501241	162560139	86690482	3	37534											
PBX1	5087	broad.mit.edu	37	chr1	164532483	164532483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttcttgcagaaaacatgCtttaaactgccacagaatga	6	9	2	3			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:164532483C>A	ENST00000420696.2	+	2	388	c.200C>A	c.(199-201)gCt>gAt	p.A67D	PBX1_ENST00000540236.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D|PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	67					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGAAAACATGCTTTAAACTGC	0.363			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(199-201)gCt>gAt		pre-B-cell leukemia homeobox 1							120	124	123					1																	164532483		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164532483C>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.200C>A	1.37:g.164532483C>A	ENSP00000405890:p.Ala67Asp					PBX1_ENST00000540236.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D|PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D	p.A67D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			2	388	+			67					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.200C>A	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120625	0.77323	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	6.14	6.14	0.99180	PBX (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.68952	2.095	0.09310	N	1.0	P;P;P	0.51791	0.948;0.924;0.924	P;P;P	0.60068	0.733;0.826;0.868	T	0.33828	-0.9853	9	0.66056	D	0.02	-7.0195	20.4548	0.99139	0.0:1.0:0.0:0.0	.	67;67;67	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	D	67	ENSP00000341455:A67D;ENSP00000405890:A67D;ENSP00000356872:A67D;ENSP00000439943:A67D;ENSP00000384856:A67D	ENSP00000341455:A67D	A	+	2	0	PBX1	162799107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.338000	0.79269	2.937000	0.99478	0.650000	0.86243	GCT		0.363	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		4	229	1	0	1	1	1	4	229					A	164532483	C	A	164532483	3	1	445	1	0	0	0	0	1	0	0	0	11492	797	28	4	206	4	PBX1	1	164532483	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	1972344	164532483	84718138	4	37535											
GREB1	9687	broad.mit.edu	37	chr2	11778832	11778833	+	Frame_Shift_Del	DEL	TT	TT	-													gtgagctccaggccccactcTttaaacatcagctgctcgga					rs372034136		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:11778832_11778833delTT	ENST00000381486.2	+	32	5883_5884	c.5583_5584delTT	c.(5581-5586)tctttafs	p.L1862fs	GREB1_ENST00000396123.1_Frame_Shift_Del_p.L860fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.L1862fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1862						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCCCACTCTTTAAACATCAG	0.426																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5581-5586)tctafs		growth regulation by estrogen in breast cancer 1																																				SO:0001589	frameshift_variant	9687					integral to membrane		g.chr2:11778832_11778833delTT		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5583_5584delTT	2.37:g.11778832_11778833delTT	ENSP00000370896:p.Leu1862fs					GREB1_ENST00000396123.1_Frame_Shift_Del_p.SL859fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.SL1861fs	p.SL1861fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	32	5883_5884	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1861					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Frame_Shift_Del	DEL	ENST00000381486.2	37	c.5583_5584delTT	CCDS42655.1																																																																																				0.426	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		16	72						16	72	---	---	---	---	-	11778833	TT	-	11778832	7	5	445	1	0	1	0	1	0	0	0	0	6760	1596	56	0	5813	0	GREB1	2	11778832	Frame_Shift_Del	DEL	TT	TCGA-S9-A7J1-01A-21D-A34J-08		11778832	231420541	5	37536											
ASXL2	55252	broad.mit.edu	37	chr2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-													tcaccttggctttcacactcTtcttttctgcctggtgatga					rs561001599		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	444					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)					TTTCACACTCTTCTTTTCTGCCTGG	0.473																																						ENST00000435504.4																			0				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						c.(1330-1335)afs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25973090_25973094delTTCTT			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.1331_1335delAAGAA	2.37:g.25973090_25973094delTTCTT	ENSP00000391447:p.Lys444fs					ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs	p.KE444fs			Q76L83	ASXL2_HUMAN			12	1624_1628	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		444					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1331_1335delAAGAA																																																																																					0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		10	408						10	408	---	---	---	---	-	25973094	TTCTT	-	25973090	7	5	445	1	0	1	0	1	0	0	0	0	1067	1606	56	0	2980	0	ASXL2	2	25973090	Frame_Shift_Del	DEL	TTCTT	TCGA-S9-A7J1-01A-21D-A34J-08	14194258	25973090	217226283	6	37537											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	60	0	0	0	1	0	35	60					T	209113112	C	T	209113112	3	4	445	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	183140022	209113112	34086261	7	37538											
XIRP1	165904	broad.mit.edu	37	chr3	39225411	39225411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggtgggcctcactgGgcagctggctgggagtagct	20	9	1	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:39225411G>A	ENST00000340369.3	-	2	5754	c.5526C>T	c.(5524-5526)gcC>gcT	p.A1842A	XIRP1_ENST00000421646.1_Silent_p.A525A|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1842	Interaction with FLNC.				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)		GGCCTCACTGGGCAGCTGGCT	0.637																																						ENST00000340369.3																			0				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						c.(5524-5526)gcC>gcT		xin actin-binding repeat containing 1							31	33	32					3																	39225411		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39225411G>A	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.5526C>T	3.37:g.39225411G>A						XIRP1_ENST00000421646.1_Silent_p.A525A|XIRP1_ENST00000396251.1_3'UTR	p.A1842A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5754	-			1842			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.5526C>T	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		10	13	0	0	0	1	0	10	13					A	39225411	G	A	39225411	2	1	445	1	0	0	0	0	0	0	0	1	17426	1219	43	2		2	XIRP1	3	39225411	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		39225411	158797019	8	37539											
CELSR3	1951	broad.mit.edu	37	chr3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatatgggcattggggccttCgtcagggtccactgcagtga	14	9	1	1	rs144228630		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:48696782C>T	ENST00000164024.4	-	1	3566	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K	CELSR3_ENST00000544264.1_Missense_Mutation_p.E1096K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1096	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TTGGGGCCTTCGTCAGGGTCC	0.532																																						ENST00000544264.1																			0				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						c.(3286-3288)Gaa>Aaa		cadherin, EGF LAG seven-pass G-type receptor 3		C	LYS/GLU	0,4406		0,0,2203	90	88	89		3286	4.9	1	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1096/3313	48696782	1,13005	2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696782C>T	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.3286G>A	3.37:g.48696782C>T	ENSP00000164024:p.Glu1096Lys					CELSR3_ENST00000164024.4_Missense_Mutation_p.E1096K	p.E1096K			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3566	-			1096			Cadherin 8.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3286G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699630	0.68501	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52295	0.67;0.67	5.78	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62196	0.2408	M	0.62723	1.935	0.58432	D	0.999999	D;P	0.60160	0.987;0.867	P;B	0.58721	0.844;0.214	T	0.65434	-0.6169	9	0.54805	T	0.06	.	16.1525	0.81632	0.1346:0.8654:0.0:0.0	.	1096;1166	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	1096	ENSP00000164024:E1096K;ENSP00000445694:E1096K	ENSP00000164024:E1096K	E	-	1	0	CELSR3	48671786	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	6.089000	0.71384	1.428000	0.47296	0.561000	0.74099	GAA		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	96	0	0	0	1	0	4	96					T	48696782	C	T	48696782	3	4	445	1	0	0	0	0	1	0	0	0	3223	893	31	1	6792	1	CELSR3	3	48696782	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	9471371	48696782	149325648	9	37540											
PIK3CA	5290	broad.mit.edu	37	chr3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-													tggccagtacctcatggattAgaagatttgctgaaccctat					rs397517200		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {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.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		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)	CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		20	Substitution - Missense(17)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)	endometrium(9)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	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						c.(1354-1359)tta>tt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928078_178928080delAGA		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.1356_1358delAGA	3.37:g.178928081_178928083delAGA	ENSP00000263967:p.Glu453del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LE452del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1513_1515	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		452			C2 PI3K-type.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.1356_1358delAGA	CCDS43171.1																																																																																				0.35	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	144						17	144	---	---	---	---	-	178928080	AGA	-	178928078	7	5	445	1	0	1	0	1	0	0	0	0	11913	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-S9-A7J1-01A-21D-A34J-08	130231296	178928078	19094352	10	37541											
IQGAP2	10788	broad.mit.edu	37	chr5	75871579	75871579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccaagaatgatatattGcattcacgcactgaggtagg	9	8	1	3			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr5:75871579G>A	ENST00000274364.6	+	5	740	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	148	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		ATGATATATTGCATTCACGCA	0.294																																						ENST00000274364.6																			0				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						c.(442-444)tGc>tAc		IQ motif containing GTPase activating protein 2							49	53	52					5																	75871579		2203	4298	6501	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75871579G>A	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.443G>A	5.37:g.75871579G>A	ENSP00000274364:p.Cys148Tyr					IQGAP2_ENST00000379730.3_5'UTR	p.C148Y	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	5	740	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	148			CH.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.443G>A	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141602	0.77775	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	D;D;D	0.94897	-3.55;-3.55;-3.55	5.51	5.51	0.81932	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99184	1.0868	10	0.87932	D	0	-13.3545	18.183	0.89785	0.0:0.0:1.0:0.0	.	148	Q13576	IQGA2_HUMAN	Y	148;121;98	ENSP00000274364:C148Y;ENSP00000423672:C121Y;ENSP00000421097:C98Y	ENSP00000274364:C148Y	C	+	2	0	IQGAP2	75907335	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.339000	0.90041	2.585000	0.87301	0.557000	0.71058	TGC		0.294	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		4	49	0	0	0	1	0	4	49					A	75871579	G	A	75871579	3	1	445	1	0	0	0	0	1	0	0	0	7815	1319	46	2	461	2	IQGAP2	5	75871579	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		75871579	105043681	11	37542											
PODXL	5420	broad.mit.edu	37	chr7	131191446	131191446	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctttgactgctcggcAtatcagtgagatcaatttct	11	8	3	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr7:131191446A>T	ENST00000378555.3	-	6	1388	c.1141T>A	c.(1141-1143)Tgc>Agc	p.C381S	PODXL_ENST00000322985.9_Missense_Mutation_p.C349S|PODXL_ENST00000537928.1_Missense_Mutation_p.C349S|PODXL_ENST00000541194.1_Missense_Mutation_p.C383S			O00592	PODXL_HUMAN	podocalyxin-like	381					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGCTCGGCATATCAGTGAG	0.587											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1147-1149)Tgc>Agc		podocalyxin-like							142	132	135					7																	131191446		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131191446A>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1141T>A	7.37:g.131191446A>T	ENSP00000367817:p.Cys381Ser		OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1585	PODXL_ENST00000322985.9_Missense_Mutation_p.C349S|PODXL_ENST00000378555.3_Missense_Mutation_p.C381S|PODXL_ENST00000537928.1_Missense_Mutation_p.C349S	p.C383S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			6	1404	-	Melanoma(18;0.162)		381					A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.1147T>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937057	0.73557	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.55481	1.735	0.42388	D	0.992515	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.55630	-0.8111	10	0.87932	D	0	-24.8875	10.2338	0.43270	1.0:0.0:0.0:0.0	.	349;381	O00592-2;O00592	.;PODXL_HUMAN	S	383;349;339;381;349	ENSP00000440518:C383S;ENSP00000442655:C349S;ENSP00000367817:C381S;ENSP00000319782:C349S	ENSP00000319782:C349S	C	-	1	0	PODXL	130841986	0.966000	0.33281	0.578000	0.28575	0.022000	0.10575	3.528000	0.53524	1.682000	0.51000	0.459000	0.35465	TGC		0.587	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		53	94	0	0	0	1	0	53	94					T	131191446	A	T	131191446	3	4	445	1	0	0	0	0	1	0	0	0	12180	217	8	5	551	5	PODXL	7	131191446	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		131191446	27947217	12	37543											
MLL3	58508	broad.mit.edu	37	chr7	151848004	151848004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttttctgagtttttcGcttgtgcagttgatgaataa	9	6	1	3	rs537579296	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr7:151848004G>A	ENST00000262189.6	-	51	12973	c.12755C>T	c.(12754-12756)gCg>gTg	p.A4252V	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Missense_Mutation_p.A4309V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4252					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)										TGAGTTTTTCGCTTGTGCAGT	0.388													g|||	3	0.000599042	0.0	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0031					ENST00000355193.2																			0											c.(12925-12927)gCg>gTg		lysine (K)-specific methyltransferase 2C							119	99	106					7																	151848004		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151848004G>A	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.12755C>T	7.37:g.151848004G>A	ENSP00000262189:p.Ala4252Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A4252V	p.A4309V							52	13144	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12926C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	g	9.441	1.087968	0.20390	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88741	-1.76;-1.74;-2.42	5.15	2.14	0.27477	.	0.172150	0.26650	N	0.023214	T	0.81153	0.4763	L	0.60455	1.87	0.80722	D	1	P;B;B	0.41710	0.76;0.176;0.176	B;B;B	0.31191	0.125;0.022;0.035	T	0.75167	-0.3413	10	0.15952	T	0.53	.	9.9682	0.41738	0.1436:0.1252:0.7313:0.0	.	4252;3370;4309	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4252;4309;869	ENSP00000262189:A4252V;ENSP00000347325:A4309V;ENSP00000410411:A869V	ENSP00000262189:A4252V	A	-	2	0	MLL3	151478937	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	1.905000	0.39878	0.589000	0.29677	-0.224000	0.12420	GCG		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			24	38	0	0	0	1	0	24	38					A	151848004	G	A	151848004	3	1	445	1	0	0	0	0	1	0	0	0	9622	1087	38	1	2016	1	MLL3	7	151848004	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	20656558	151848004	7290659	13	37544											
CRISPLD1	83690	broad.mit.edu	37	chr8	75937819	75937819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgcaagcaaatccacAttatgctcgtgtaattggaa	8	8	0	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:75937819A>G	ENST00000262207.4	+	13	1751	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R|RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	428	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				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)			GCAAATCCACATTATGCTCGT	0.279																																						ENST00000262207.4																			0				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						c.(1282-1284)cAt>cGt		cysteine-rich secretory protein LCCL domain containing 1							107	94	98					8																	75937819		2203	4296	6499	SO:0001583	missense	83690					extracellular region		g.chr8:75937819A>G	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.1283A>G	8.37:g.75937819A>G	ENSP00000262207:p.His428Arg					CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R	p.H428R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		13	1751	+	Breast(64;0.0799)		428			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1283A>G	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954371	0.73902	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;T	0.81078	0.34;-1.15;-1.45	5.54	5.54	0.83059	LCCL (5);	0.056022	0.64402	D	0.000001	T	0.80347	0.4606	N	0.17278	0.47	0.45194	D	0.998207	D;B	0.60160	0.987;0.44	D;B	0.72982	0.979;0.34	T	0.75827	-0.3180	10	0.12103	T	0.63	.	15.8422	0.78857	1.0:0.0:0.0:0.0	.	242;428	B7Z929;Q9H336	.;CRLD1_HUMAN	R	428;240;242	ENSP00000262207:H428R;ENSP00000430105:H240R;ENSP00000429746:H242R	ENSP00000262207:H428R	H	+	2	0	CRISPLD1	76100374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.350000	0.73017	2.323000	0.78572	0.528000	0.53228	CAT		0.279	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		7	126	0	0	0	1	0	7	126					G	75937819	A	G	75937819	3	3	445	1	0	0	0	0	1	0	0	0	3882	217	8	3	1329	3	CRISPLD1	8	75937819	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		75937819	70426203	14	37545											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806482	145806482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccacaccgtgcgctgcGtgctggcattgtagtagtag	15	10	0	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:145806482G>A	ENST00000276826.5	-	2	461	c.260C>T	c.(259-261)aCg>aTg	p.T87M	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|CTD-2517M22.9_ENST00000529377.1_RNA			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	87	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTGCGCTGCGTGCTGGCATT	0.682																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(259-261)aCg>aTg		Rho GTPase activating protein 39							24	24	24					8																	145806482		2196	4296	6492	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806482G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.260C>T	8.37:g.145806482G>A	ENSP00000276826:p.Thr87Met					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M	p.T87M			Q9C0H5	RHG39_HUMAN			2	461	-			87			WW 2.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.260C>T		.	.	.	.	.	.	.	.	.	.	G	19.37	3.815519	0.70912	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	D;D;D	0.94497	-3.44;-3.44;-3.44	5.39	5.39	0.77823	WW/Rsp5/WWP (4);	0.376641	0.25912	N	0.027499	D	0.96473	0.8849	M	0.83012	2.62	0.09310	N	1	D;D	0.57571	0.98;0.976	P;P	0.59643	0.861;0.782	D	0.92103	0.5690	10	0.72032	D	0.01	-3.5451	11.6944	0.51536	0.0:0.0:0.8231:0.1769	.	87;87	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	M	87	ENSP00000276826:T87M;ENSP00000366522:T87M;ENSP00000445075:T87M	ENSP00000276826:T87M	T	-	2	0	ARHGAP39	145777290	1.000000	0.71417	0.192000	0.23308	0.991000	0.79684	3.572000	0.53849	2.524000	0.85096	0.446000	0.29264	ACG		0.682	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			3	8	0	0	0	1	0	3	8					A	145806482	G	A	145806482	3	1	445	1	0	0	0	0	1	0	0	0	884	1145	40	1	3124	1	ARHGAP39	8	145806482	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	69868663	145806482	557540	15	37546											
AMBP	259	broad.mit.edu	37	chr9	116823806	116823806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggccatggatgtacCattatagaaatacctgctgg	9	10	1	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:116823806C>T	ENST00000265132.3	-	8	1013	c.751G>A	c.(751-753)Ggt>Agt	p.G251S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	251	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ATGGATGTACCATTATAGAAA	0.557																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(751-753)Ggt>Agt		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						76	72	73					9																	116823806		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823806C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.751G>A	9.37:g.116823806C>T	ENSP00000265132:p.Gly251Ser						p.G251S	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1013	-			251			BPTI/Kunitz inhibitor 1.		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.751G>A	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	0.346	-0.947666	0.02304	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.54479	0.57	5.68	3.83	0.44106	Proteinase inhibitor I2, Kunitz metazoa (5);	0.423434	0.28393	N	0.015505	T	0.16128	0.0388	N	0.01146	-0.985	0.09310	N	1	P;B	0.39094	0.659;0.283	B;B	0.36567	0.228;0.086	T	0.37619	-0.9698	10	0.02654	T	1	.	4.6102	0.12399	0.1763:0.6476:0.0:0.1761	.	192;251	B7Z8R6;P02760	.;AMBP_HUMAN	S	251;192	ENSP00000265132:G251S	ENSP00000265132:G251S	G	-	1	0	AMBP	115863627	0.870000	0.30015	0.029000	0.17559	0.336000	0.28762	1.877000	0.39598	1.393000	0.46605	0.655000	0.94253	GGT		0.557	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		4	81	0	0	0	1	0	4	81					T	116823806	C	T	116823806	3	4	445	1	0	0	0	0	1	0	0	0	564	594	21	2	319	2	AMBP	9	116823806	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		116823806	24389625	16	37547											
MUC2	4583	broad.mit.edu	37	chr11	1095756	1095756	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggagtgtgagccgccGcccatgcccacctgctccaa	12	15	0	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:1095756G>T	ENST00000441003.2	+	33	6294	c.6267G>T	c.(6265-6267)ccG>ccT	p.P2089P	MUC2_ENST00000361558.6_Silent_p.P227P|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4451					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)	GTGAGCCGCCGCCCATGCCCA	0.657																																						ENST00000441003.2																			0				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						c.(6265-6267)ccG>ccT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						42	54	50					11																	1095756		2164	4239	6403	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1095756G>T	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.6267G>T	11.37:g.1095756G>T						MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.P227P	p.P2089P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	33	6294	+		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)	4451					Q14878	Silent	SNP	ENST00000441003.2	37	c.6267G>T																																																																																					0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	20	1	0	1	1	1	3	20					T	1095756	G	T	1095756	2	4	445	1	0	0	0	0	0	0	0	1	9975	1074	38	4		4	MUC2	11	1095756	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		1095756	133910760	17	37548											
COPB1	1315	broad.mit.edu	37	chr11	14515905	14515905	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgaatgatggtcatcagaaGtccaggaagtttttcaccat	9	8	3	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:14515905G>C	ENST00000249923.3	-	3	472	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	58					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTCATCAGAAGTCCAGGAAGT	0.333																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(172-174)Ctt>Gtt		coatomer protein complex, subunit beta 1							101	98	99					11																	14515905		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14515905G>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.172C>G	11.37:g.14515905G>C	ENSP00000249923:p.Leu58Val					PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V	p.L58V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			3	472	-			58					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.172C>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961793	0.92791	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.85859	2.78	0.80722	D	1	P	0.50272	0.933	P	0.53102	0.718	T	0.61491	-0.7052	10	0.62326	D	0.03	-8.1786	19.5796	0.95461	0.0:0.0:1.0:0.0	.	58	P53618	COPB_HUMAN	V	58	ENSP00000249923:L58V;ENSP00000397873:L58V;ENSP00000436383:L58V;ENSP00000431530:L58V;ENSP00000436401:L58V	ENSP00000249923:L58V	L	-	1	0	COPB1	14472481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	CTT		0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		35	71	0	0	0	1	0	35	71					C	14515905	G	C	14515905	3	2	445	1	0	0	0	0	1	0	0	0	3728	1029	36	4	2769	4	COPB1	11	14515905	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	13420149	14515905	120490611	18	37549											
SLC26A10	65012	broad.mit.edu	37	chr12	58018904	58018906	+	Splice_Site	DEL	AGG	AGG	-													gactgcccttctttacttatAggagacttcaaagccagatg							TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:58018904_58018906delAGG	ENST00000320442.4	+	11	1655_1656	c.1344_1345delAGG	c.(1342-1347)aaagga>aaga	p.G449del	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	449	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)					CTTTACTTATAGGAGACTTCAAA	0.532																																						ENST00000320442.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.e11-1		solute carrier family 26, member 10																																				SO:0001630	splice_region_variant	65012					integral to membrane	antiporter activity	g.chr12:58018904_58018906delAGG		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.1345-1AGG>-	12.37:g.58018904_58018906delAGG						SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	p.K448_splice	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN			11	1655_1656	+	Melanoma(17;0.122)		448			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Splice_Site	DEL	ENST00000320442.4	37	c.1344_splice	CCDS8949.2																																																																																				0.532	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2		In_Frame_Del	68	199						68	199	---	---	---	---	-	58018906	AGG	-	58018904	8	5	445	1	0	1	0	1	0	0	1	0	14515	434	15	0	1385	0	SLC26A10	12	58018904	Splice_Site	DEL	AGG	TCGA-S9-A7J1-01A-21D-A34J-08		58018904	75832991	19	37550											
APAF1	317	broad.mit.edu	37	chr12	99059486	99059486	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagatgaagccatgtctataAgtgttgaaatgctcagagaa	10	5	2	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:99059486A>T	ENST00000551964.1	+	8	1847	c.1111A>T	c.(1111-1113)Agt>Tgt	p.S371C	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000357310.1_Missense_Mutation_p.S371C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	371	NB-ARC.				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)	CATGTCTATAAGTGTTGAAAT	0.383																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(1111-1113)Agt>Tgt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						78	77	77					12																	99059486		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99059486A>T	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.1111A>T	12.37:g.99059486A>T	ENSP00000448165:p.Ser371Cys					APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000551964.1_Missense_Mutation_p.S371C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C	p.S371C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			8	1688	+			371			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.1111A>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151253	0.78001	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.14	5.14	0.70334	NB-ARC (1);	0.037203	0.85682	D	0.000000	D	0.91747	0.7390	M	0.76170	2.325	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;0.995	D	0.92721	0.6191	10	0.72032	D	0.01	-14.2364	14.9517	0.71080	1.0:0.0:0.0:0.0	.	371;360;371;360	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	C	371;360;371;371;360;371;371	ENSP00000448165:S371C;ENSP00000353059:S360C;ENSP00000349862:S371C;ENSP00000341830:S371C;ENSP00000448449:S360C;ENSP00000449791:S371C;ENSP00000448161:S371C	ENSP00000341830:S371C	S	+	1	0	APAF1	97583617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.153000	0.77428	1.943000	0.56356	0.528000	0.53228	AGT		0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		13	39	0	0	0	1	0	13	39					T	99059486	A	T	99059486	3	4	445	1	0	0	0	0	1	0	0	0	755	72	3	5	1137	5	APAF1	12	99059486	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08	41040582	99059486	34792409	20	37551											
CLIP1	6249	broad.mit.edu	37	chr12	122862135	122862135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagacaccatgctggccGtagaagtgcacagcggtgaa	14	9	0	3			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:122862135G>A	ENST00000540338.1	-	2	499	c.458C>T	c.(457-459)aCg>aTg	p.T153M	CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M|CLIP1_ENST00000358808.2_Missense_Mutation_p.T153M|CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	153	Ser-rich.				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)		CATGCTGGCCGTAGAAGTGCA	0.557																																						ENST00000358808.2																			0				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						c.(457-459)aCg>aTg		CAP-GLY domain containing linker protein 1							167	147	154					12																	122862135		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862135G>A		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.458C>T	12.37:g.122862135G>A	ENSP00000439093:p.Thr153Met					CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M|CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M|CLIP1_ENST00000540338.1_Missense_Mutation_p.T153M	p.T153M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	612	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		153			Ser-rich.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.458C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	g	7.208	0.594803	0.13875	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.81	1.43	0.22495	Cytoskeleton-associated protein, Gly-rich domain (1);	0.825750	0.11317	N	0.576481	T	0.55081	0.1898	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.25563	0.129;0.013;0.002;0.004	B;B;B;B	0.18263	0.021;0.012;0.005;0.007	T	0.44329	-0.9335	10	0.46703	T	0.11	-0.0589	7.1557	0.25637	0.2793:0.1203:0.6004:0.0	.	153;153;153;153	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	M	153	ENSP00000303585:T153M;ENSP00000351665:T153M;ENSP00000445531:T153M;ENSP00000439093:T153M;ENSP00000437786:T153M;ENSP00000441409:T153M	ENSP00000303585:T153M	T	-	2	0	CLIP1	121428088	0.145000	0.22656	0.000000	0.03702	0.260000	0.26232	2.609000	0.46317	0.379000	0.24794	0.586000	0.80456	ACG		0.557	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		4	152	0	0	0	1	0	4	152					A	122862135	G	A	122862135	3	1	445	1	0	0	0	0	1	0	0	0	3532	1145	40	1	3917	1	CLIP1	12	122862135	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	23802649	122862135	10989760	21	37552											
SLITRK5	26050	broad.mit.edu	37	chr13	88327979	88327979	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcaattttgcatctAggtagcaatgttatccagga	11	7	2	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:88327979A>T	ENST00000325089.6	+	2	555	c.336A>T	c.(334-336)ctA>ctT	p.L112L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	112					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)					TTTTGCATCTAGGTAGCAATG	0.458																																						ENST00000325089.6																			0				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						c.(334-336)ctA>ctT		SLIT and NTRK-like family, member 5							115	122	120					13																	88327979		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327979A>T	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.336A>T	13.37:g.88327979A>T						SLITRK5_ENST00000400028.3_Intron	p.L112L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	555	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		112					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.336A>T	CCDS9465.1																																																																																				0.458	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			73	129	0	0	0	1	0	73	129					T	88327979	A	T	88327979	2	4	445	1	0	0	0	0	0	0	0	1	14746	407	15	5		5	SLITRK5	13	88327979	Silent	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		88327979	26841899	22	37553											
SLC10A2	6555	broad.mit.edu	37	chr13	103710695	103710695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcacagcggcatcattcCgagggcaagcagtgtggagc	16	10	1	0	rs200749358		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:103710695C>T	ENST00000245312.3	-	2	1011	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	139					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)	GGCATCATTCCGAGGGCAAGC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.0		0.0	False		,,,				2504	0.001					ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(415-417)Gga>Aga		solute carrier family 10 (sodium/bile acid cotransporter), member 2							120	99	106					13																	103710695		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710695C>T	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.415G>A	13.37:g.103710695C>T	ENSP00000245312:p.Gly139Arg						p.G139R	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	1011	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		139					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.415G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644454	0.87859	.	.	ENSG00000125255	ENST00000245312	T	0.12255	2.7	5.74	5.74	0.90152	.	0.048401	0.85682	D	0.000000	T	0.49575	0.1565	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58434	-0.7637	10	0.66056	D	0.02	-16.3696	18.4783	0.90800	0.0:1.0:0.0:0.0	.	139	Q12908	NTCP2_HUMAN	R	139	ENSP00000245312:G139R	ENSP00000245312:G139R	G	-	1	0	SLC10A2	102508696	1.000000	0.71417	0.983000	0.44433	0.479000	0.33129	5.801000	0.69115	2.873000	0.98535	0.563000	0.77884	GGA		0.473	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			15	32	0	0	0	1	0	15	32					T	103710695	C	T	103710695	3	4	445	1	0	0	0	0	1	0	0	0	14374	661	23	1	651	1	SLC10A2	13	103710695	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	15382716	103710695	11459183	23	37554											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30664498	30664498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgacatcagggtagggCtctttgcagcactcatagaa	12	8	3	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:30664498C>A	ENST00000299847.2	-	7	828	c.375G>T	c.(373-375)gaG>gaT	p.E125D	CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.E34D	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	125						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)		CAGGGTAGGGCTCTTTGCAGC	0.542																																						ENST00000397827.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(100-102)gaG>gaT		CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion							84	81	82					15																	30664498		1662	3573	5235	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30664498C>A	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.375G>T	15.37:g.30664498C>A	ENSP00000299847:p.Glu125Asp					CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.E125D|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D	p.E34D	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN		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)	6	876	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	125					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.102G>T	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042230	0.35989	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	T;T;T	0.78003	-1.14;-1.14;-1.14	2.73	1.78	0.24846	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.71206	2.165	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.80379	-0.1407	10	0.66056	D	0.02	.	5.3694	0.16131	0.0:0.7014:0.0:0.2986	.	125	Q494W8	CRFM7_HUMAN	D	125;34;34	ENSP00000299847:E125D;ENSP00000380927:E34D;ENSP00000385389:E34D	ENSP00000299847:E125D	E	-	3	2	CHRFAM7A	28451790	0.999000	0.42202	0.998000	0.56505	0.211000	0.24417	0.646000	0.24797	0.438000	0.26450	0.398000	0.26397	GAG		0.542	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		10	27	1	0	0.000442599	1	0.000467891	10	27					A	30664498	C	A	30664498	3	1	445	1	0	0	0	0	1	0	0	0	3375	796	28	4	879	4	CHRFAM7A	15	30664498	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		30664498	71866894	24	37555											
KIF23	9493	broad.mit.edu	37	chr15	69727846	69727846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattaatcagtcactaatgaCgctaagaacatgtatggatg	8	6	2	2	rs377663038		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:69727846C>T	ENST00000260363.4	+	11	1214	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	KIF23_ENST00000352331.4_Missense_Mutation_p.T366M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000559279.1_Missense_Mutation_p.T366M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	366	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)|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						TCACTAATGACGCTAAGAACA	0.353																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1096-1098)aCg>aTg		kinesin family member 23		C	MET/THR,MET/THR	0,4398		0,0,2199	164	156	159		1097,1097	3.2	0.6	15		159	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	KIF23	NM_004856.5,NM_138555.2	81,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	366/857,366/961	69727846	1,12993	2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69727846C>T	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.1097C>T	15.37:g.69727846C>T	ENSP00000260363:p.Thr366Met					KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000352331.4_Missense_Mutation_p.T366M|KIF23_ENST00000559279.1_Missense_Mutation_p.T366M	p.T366M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			11	1214	+			366					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1097C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472692	0.63737	0.0	1.16E-4	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.12	3.19	0.36642	Kinesin, motor domain (3);	0.097270	0.64402	D	0.000001	D	0.83321	0.5229	L	0.60012	1.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;D	0.72338	0.977;0.897;0.956	T	0.82629	-0.0363	10	0.87932	D	0	.	9.2067	0.37293	0.1453:0.7781:0.0:0.0765	.	183;366;366	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	M	366;366;366;183	ENSP00000260363:T366M;ENSP00000304978:T366M;ENSP00000378790:T366M;ENSP00000442969:T183M	ENSP00000260363:T366M	T	+	2	0	KIF23	67514900	0.972000	0.33761	0.632000	0.29296	0.629000	0.37895	2.428000	0.44749	0.626000	0.30322	0.591000	0.81541	ACG		0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				15	53	0	0	0	1	0	15	53					T	69727846	C	T	69727846	3	4	445	1	0	0	0	0	1	0	0	0	8291	536	19	1	1139	1	KIF23	15	69727846	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	39063348	69727846	32803546	25	37556											
FES	2242	broad.mit.edu	37	chr15	91433669	91433669	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggaaggacacccacgctggaGatccttaagagccacatctc	10	13	1	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:91433669G>C	ENST00000328850.3	+	10	1417	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000448367.1_3'UTR|FES_ENST00000394300.3_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D|FES_ENST00000444422.2_Missense_Mutation_p.E425D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	425					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCACGCTGGAGATCCTTAAGA	0.612																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1273-1275)gaG>gaC		feline sarcoma oncogene							51	47	49					15																	91433669		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433669G>C	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1275G>C	15.37:g.91433669G>C	ENSP00000331504:p.Glu425Asp					FES_ENST00000444422.2_Missense_Mutation_p.E425D|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000394300.3_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D	p.E425D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		10	1417	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		425					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1275G>C	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758416	0.49468	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.76186	-0.86;-0.84;-1.0;-0.83;-0.86;-0.84	5.04	0.841	0.18918	.	0.490235	0.21909	N	0.067335	T	0.69441	0.3111	L	0.28274	0.84	0.19575	N	0.999962	B;D;P;B;D;B	0.61080	0.002;0.971;0.905;0.005;0.989;0.004	B;P;B;B;P;B	0.58780	0.006;0.717;0.444;0.013;0.845;0.006	T	0.60244	-0.7301	10	0.34782	T	0.22	-44.4779	8.3314	0.32189	0.4915:0.0:0.5085:0.0	.	407;367;367;367;425;425	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	D	425;367;367;425;367;367	ENSP00000331504:E425D;ENSP00000414629:E367D;ENSP00000377839:E367D;ENSP00000400868:E425D;ENSP00000377837:E367D;ENSP00000409915:E367D	ENSP00000331504:E425D	E	+	3	2	FES	89234673	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.066000	0.30604	0.321000	0.23259	0.650000	0.86243	GAG		0.612	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		22	41	0	0	0	1	0	22	41					C	91433669	G	C	91433669	3	2	445	1	0	0	0	0	1	0	0	0	5820	933	33	4	1309	4	FES	15	91433669	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	21705823	91433669	11097723	26	37557											
HYDIN	54768	broad.mit.edu	37	chr16	70917932	70917932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacactttcccatggcGtcagccacacagtcaacgtt	6	16	3	0	rs141625832	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:70917932G>A	ENST00000393567.2	-	59	10020	c.9870C>T	c.(9868-9870)gaC>gaT	p.D3290D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3290					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)				TTCCCATGGCGTCAGCCACAC	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21695	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			0				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						c.(9868-9870)gaC>gaT		HYDIN, axonemal central pair apparatus protein							54	53	53					16																	70917932		2068	4224	6292	SO:0001819	synonymous_variant	54768							g.chr16:70917932G>A	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.9870C>T	16.37:g.70917932G>A							p.D3290D	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			59	10020	-		Ovarian(137;0.0654)	3290					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.9870C>T	CCDS59269.1																																																																																				0.567	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	29	0	0	0	1	0	7	29					A	70917932	G	A	70917932	2	1	445	1	0	0	0	0	0	0	0	1	7467	1136	40	1		1	HYDIN	16	70917932	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		70917932	19436821	27	37558											
TOP3A	7156	broad.mit.edu	37	chr17	18181116	18181116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtgtgacggagggctgGctgcaaaggcaggatgtgcc	18	9	0	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr17:18181116G>T	ENST00000321105.5	-	18	2914	c.2700C>A	c.(2698-2700)agC>agA	p.S900R	TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R|TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	900	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGAGGGCTGGCTGCAAAGGC	0.622																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2698-2700)agC>agA		topoisomerase (DNA) III alpha							79	71	74					17																	18181116		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181116G>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2700C>A	17.37:g.18181116G>T	ENSP00000321636:p.Ser900Arg					TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R|TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R	p.S900R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2914	-			900			2 X 27 AA approximate repeats.		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2700C>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	3.253	-0.152814	0.06585	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.21734	1.99;1.99;1.99	5.65	1.36	0.22044	Zinc finger, GRF-type (1);	0.313694	0.41938	D	0.000799	T	0.09555	0.0235	N	0.11927	0.2	0.22873	N	0.998621	B;B	0.14805	0.011;0.011	B;B	0.14578	0.011;0.011	T	0.34725	-0.9817	10	0.19147	T	0.46	-15.1721	7.7571	0.28930	0.1965:0.3032:0.5002:0.0	.	805;900	B4DK80;Q13472	.;TOP3A_HUMAN	R	900;430;805	ENSP00000321636:S900R;ENSP00000446425:S430R;ENSP00000442336:S805R	ENSP00000321636:S900R	S	-	3	2	TOP3A	18121841	0.904000	0.30761	0.996000	0.52242	0.025000	0.11179	-0.015000	0.12634	0.054000	0.16065	-0.311000	0.09066	AGC		0.622	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			23	45	1	0	1.10513e-12	1	1.23909e-12	23	45					T	18181116	G	T	18181116	3	4	445	1	0	0	0	0	1	0	0	0	16364	1194	42	4	313	4	TOP3A	17	18181116	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		18181116	63014094	28	37559											
CIC	23152	broad.mit.edu	37	chr19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-													ctgaagaagacctttgactcTgtggacaagtgagcatgggc							TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:42797980_42797981delTG	ENST00000575354.2	+	16	4072_4073	c.4032_4033delTG	c.(4030-4035)tctgtgfs	p.V1345fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V1343fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.V2252fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1345					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)				CCTTTGACTCTGTGGACAAGTG	0.693			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(6751-6756)tctgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797980_42797981delTG	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.4032_4033delTG	19.37:g.42797982_42797983delTG	ENSP00000458663:p.Val1345fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1342fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1344fs	p.SV2251fs			Q96RK0	CIC_HUMAN			17	6821_6822	+		Prostate(69;0.00682)	1344					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6753_6754delTG	CCDS12601.1																																																																																				0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	68						18	68	---	---	---	---	-	42797981	TG	-	42797980	7	5	445	1	0	1	0	1	0	0	0	0	3424	1567	55	0	4094	0	CIC	19	42797980	Frame_Shift_Del	DEL	TG	TCGA-S9-A7J1-01A-21D-A34J-08		42797980	16331003	29	37560											
ZNF324	25799	broad.mit.edu	37	chr19	58982998	58982998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggccgccgcttctgccGcaactcgcacctgatccagc	11	17	1	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:58982998G>A	ENST00000536459.2	+	4	1848	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H			O75467	Z324A_HUMAN	zinc finger protein 324	380					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCTTCTGCCGCAACTCGCAC	0.657																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1138-1140)cGc>cAc		zinc finger protein 324							19	18	19					19																	58982998		2195	4288	6483	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982998G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1139G>A	19.37:g.58982998G>A	ENSP00000444812:p.Arg380His					ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H	p.R380H			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1848	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	380					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1139G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402979	0.42613	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.07327	3.2;3.2;3.2	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000724	T	0.03915	0.0110	L	0.38838	1.175	0.39805	D	0.972621	P	0.49307	0.922	B	0.27262	0.078	T	0.47661	-0.9100	10	0.14252	T	0.57	.	7.1954	0.25849	0.1192:0.0:0.8808:0.0	.	380	O75467	Z324A_HUMAN	H	380;380;370;157	ENSP00000196482:R380H;ENSP00000444812:R380H;ENSP00000439588:R157H	ENSP00000196482:R380H	R	+	2	0	ZNF324	63674810	0.000000	0.05858	1.000000	0.80357	0.939000	0.58152	0.263000	0.18478	2.330000	0.79161	0.400000	0.26472	CGC		0.657	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	25	0	0	0	1	0	3	25					A	58982998	G	A	58982998	3	1	445	1	0	0	0	0	1	0	0	0	17841	1087	38	1	1149	1	ZNF324	19	58982998	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	16185018	58982998	145985	30	37561											
NPBWR2	2832	broad.mit.edu	37	chr20	62737689	62737689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagacacacaggctggCgaccttcgccccccggtagg	12	17	0	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr20:62737689C>T	ENST00000369768.1	-	1	835	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACAGGCTGGCGACCTTCGCC	0.647																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(496-498)Gcc>Acc		neuropeptides B/W receptor 2							23	24	24					20																	62737689		2195	4286	6481	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737689C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.496G>A	20.37:g.62737689C>T	ENSP00000358783:p.Ala166Thr						p.A166T	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	835	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		166					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.496G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	6.669	0.492072	0.12702	.	.	ENSG00000125522	ENST00000369768	T	0.37752	1.18	3.9	-7.69	0.01263	GPCR, rhodopsin-like superfamily (1);	0.391333	0.22884	N	0.054467	T	0.14917	0.0360	N	0.16130	0.375	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.05225	-1.0898	10	0.44086	T	0.13	.	8.4322	0.32764	0.0:0.2526:0.1122:0.6352	.	166	P48146	NPBW2_HUMAN	T	166	ENSP00000358783:A166T	ENSP00000358783:A166T	A	-	1	0	NPBWR2	62208133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.713000	0.05007	-1.333000	0.02247	-1.174000	0.01732	GCC		0.647	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		4	26	0	0	0	1	0	4	26					T	62737689	C	T	62737689	3	4	445	1	0	0	0	0	1	0	0	0	10569	768	27	1	508	1	NPBWR2	20	62737689	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		62737689	287831	31	37562											
RIBC2	26150	broad.mit.edu	37	chr22	45826809	45826809	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaaagcgccagcgagaCctggactgggaccggcggag	17	10	0	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr22:45826809C>G	ENST00000342894.3	+	6	1128	c.714C>G	c.(712-714)gaC>gaG	p.D238E	RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	238						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCAGCGAGACCTGGACTGGG	0.642																																						ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(712-714)gaC>gaG		RIB43A domain with coiled-coils 2							14	16	15					22																	45826809		2202	4300	6502	SO:0001583	missense	26150							g.chr22:45826809C>G	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.714C>G	22.37:g.45826809C>G	ENSP00000342529:p.Asp238Glu					RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E|RIBC2_ENST00000466226.1_3'UTR	p.D238E			Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1128	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	238					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.714C>G		.	.	.	.	.	.	.	.	.	.	c	3.201	-0.163728	0.06502	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.20598	2.06;2.06	3.9	1.81	0.25067	.	0.337042	0.30134	N	0.010327	T	0.06781	0.0173	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.25884	0.064	T	0.38908	-0.9639	9	0.02654	T	1	-6.2088	3.7934	0.08730	0.0:0.5095:0.1835:0.307	.	238	Q9H4K1	RIBC2_HUMAN	E	238;306	ENSP00000342529:D238E;ENSP00000444196:D306E	ENSP00000342529:D238E	D	+	3	2	RIBC2	44205473	0.106000	0.21978	0.338000	0.25549	0.570000	0.35934	0.463000	0.21972	0.347000	0.23924	-0.119000	0.15052	GAC		0.642	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		5	14	0	0	0	1	0	5	14					G	45826809	C	G	45826809	3	3	445	1	0	0	0	0	1	0	0	0	13353	506	18	4	939	4	RIBC2	22	45826809	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		45826809	5477757	32	37563											
HMGCS2	3158	broad.mit.edu	37	chr1	120302572	120302572	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagcattaccactgggAtagacggcaatgtctccaca	11	11	1	1			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr1:120302572A>T	ENST00000369406.3	-	3	649	c.600T>A	c.(598-600)taT>taA	p.Y200*	HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	200					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TACCACTGGGATAGACGGCAA	0.517																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(598-600)taT>taA		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							60	57	58					1																	120302572		2203	4300	6503	SO:0001587	stop_gained	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302572A>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.600T>A	1.37:g.120302572A>T	ENSP00000358414:p.Tyr200*					HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	p.Y200*	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	649	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	200					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Nonsense_Mutation	SNP	ENST00000369406.3	37	c.600T>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	A	36	5.610492	0.96637	.	.	ENSG00000134240	ENST00000369406	.	.	.	5.32	-0.862	0.10673	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2369	11.0839	0.48076	0.4752:0.0:0.5248:0.0	.	.	.	.	X	200	.	ENSP00000358414:Y200X	Y	-	3	2	HMGCS2	120104095	0.975000	0.34042	0.096000	0.21009	0.912000	0.54170	0.320000	0.19540	-0.420000	0.07427	0.374000	0.22700	TAT		0.517	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		3	23	0	0	0	1	0	3	23					T	120302572	A	T	120302572	4	4	446	1	0	0	0	0	0	1	0	0	7233	340	12	5	954	5	HMGCS2	1	120302572	Nonsense_Mutation	SNP	A	TCGA-S9-A7J2-01A-11D-A34A-08		120302572	128948049	1	37564											
KLHL23	151230	broad.mit.edu	37	chr2	170592131	170592131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaagctatcatagagCcagttattaagtggactgct	10	6	1	3			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:170592131C>A	ENST00000392647.2	+	2	851	c.607C>A	c.(607-609)Cca>Aca	p.P203T	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	203	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TATCATAGAGCCAGTTATTAA	0.353																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(607-609)Cca>Aca		kelch-like family member 23							47	51	49					2																	170592131		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170592131C>A	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.607C>A	2.37:g.170592131C>A	ENSP00000376419:p.Pro203Thr					KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T	p.P203T	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			2	851	+			203			BACK.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.607C>A	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796940	0.31777	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.67523	-0.27;-0.27;-0.27	5.81	5.81	0.92471	BTB/Kelch-associated (2);	0.107189	0.64402	D	0.000004	T	0.53417	0.1795	N	0.13043	0.29	0.34527	D	0.708835	B	0.11235	0.004	B	0.17098	0.017	T	0.59123	-0.7513	9	0.87932	D	0	.	16.5516	0.84473	0.0:0.8611:0.1389:0.0	.	203	Q8NBE8	KLH23_HUMAN	T	203;203;24	ENSP00000272797:P203T;ENSP00000376419:P203T;ENSP00000394732:P24T	ENSP00000272797:P203T	P	+	1	0	KLHL23	170300377	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.310000	0.65780	2.738000	0.93877	0.655000	0.94253	CCA		0.353	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		3	69	1	0	0.115264	1	0.115264	3	69					A	170592131	C	A	170592131	3	1	446	1	0	0	0	0	1	0	0	0	8378	739	26	4	609	4	KLHL23	2	170592131	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		170592131	72607242	2	37565											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			47	55	0	0	0	1	0	47	55					T	209113112	C	T	209113112	3	4	446	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08	38520981	209113112	34086261	3	37566											
AGAP1	116987	broad.mit.edu	37	chr2	236706492	236706492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcccagccattcctccGtctgttccgcgcaggtgtct	8	16	3	0	rs367742479		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:236706492G>A	ENST00000304032.8	+	7	1343	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	AGAP1_ENST00000409538.1_Missense_Mutation_p.V520I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	255	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCATTCCTCCGTCTGTTCCGC	0.512																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1558-1560)Gtc>Atc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	186	182	184		763,763	5.3	0.7	2		184	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	255/858,255/805	236706492	1,13005	2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236706492G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.763G>A	2.37:g.236706492G>A	ENSP00000307634:p.Val255Ile					AGAP1_ENST00000304032.7_Missense_Mutation_p.V255I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I	p.V520I			Q9UPQ3	AGAP1_HUMAN			7	2054	+			255			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1558G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226332	0.58668	0.0	1.16E-4	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.56769	1.78	0.54753	D	0.999988	P;P	0.52170	0.951;0.941	B;B	0.42851	0.4;0.151	T	0.26155	-1.0111	10	0.33141	T	0.24	.	18.974	0.92728	0.0:0.0:1.0:0.0	.	255;255	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	255;255;255;520;94	ENSP00000387174:V255I;ENSP00000307634:V255I;ENSP00000338378:V255I;ENSP00000386897:V520I;ENSP00000411824:V94I	ENSP00000307634:V255I	V	+	1	0	AGAP1	236371231	1.000000	0.71417	0.687000	0.30102	0.810000	0.45777	6.491000	0.73649	2.478000	0.83669	0.650000	0.86243	GTC		0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		14	191	0	0	0	1	0	14	191					A	236706492	G	A	236706492	3	1	446	1	0	0	0	0	1	0	0	0	366	1145	40	1	789	1	AGAP1	2	236706492	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	27593380	236706492	6492881	4	37567											
CADPS	8618	broad.mit.edu	37	chr3	62751626	62751626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaggaaagcctgaaaccGgtccttgactgtctgcagct	11	10	1	3			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr3:62751626G>A	ENST00000383710.4	-	2	824	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W|CADPS_ENST00000283269.9_Missense_Mutation_p.R159W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	159					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)		GCCTGAAACCGGTCCTTGACT	0.453																																						ENST00000383710.4																			0				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						c.(475-477)Cgg>Tgg		Ca++-dependent secretion activator							138	123	128					3																	62751626		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751626G>A	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.475C>T	3.37:g.62751626G>A	ENSP00000373215:p.Arg159Trp					CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000283269.9_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W	p.R159W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	824	-		Lung SC(41;0.0452)	159					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.475C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049729	0.75846	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.24	3.43	0.39272	.	0.055380	0.85682	D	0.000000	D	0.92407	0.7590	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.993	D	0.93247	0.6631	10	0.87932	D	0	.	17.0363	0.86477	0.0:0.0:0.8653:0.1347	.	159;159;159	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	W	159	ENSP00000373215:R159W;ENSP00000350632:R159W;ENSP00000283269:R159W;ENSP00000418736:R159W	ENSP00000283269:R159W	R	-	1	2	CADPS	62726666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.333000	0.72939	0.692000	0.31613	-1.075000	0.02238	CGG		0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		36	70	0	0	0	1	0	36	70					A	62751626	G	A	62751626	3	1	446	1	0	0	0	0	1	0	0	0	2570	1115	39	1	3775	1	CADPS	3	62751626	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		62751626	135270804	5	37568											
RBM47	54502	broad.mit.edu	37	chr4	40440030	40440030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttcatggcatgcacgGcatcctcgcggctggtgaag	15	10	1	1			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr4:40440030G>A	ENST00000381793.2	-	3	1277	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Missense_Mutation_p.A294V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	294	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCATGCACGGCATCCTCGCG	0.622																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(880-882)gCc>gTc		RNA binding motif protein 47							48	43	45					4																	40440030		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440030G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.881C>T	4.37:g.40440030G>A	ENSP00000371212:p.Ala294Val					RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000381793.2_Missense_Mutation_p.A294V	p.A294V			A0AV96	RBM47_HUMAN			4	1590	-			294			RRM 3.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.881C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575337	0.86645	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.046322	0.85682	D	0.000000	D	0.89993	0.6876	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.67382	0.778;0.951	D	0.90503	0.4475	10	0.87932	D	0	-22.1976	19.5729	0.95428	0.0:0.0:1.0:0.0	.	294;294	A0AV96-2;A0AV96	.;RBM47_HUMAN	V	294;294;294;294;256	ENSP00000320108:A294V;ENSP00000371212:A294V;ENSP00000371214:A294V;ENSP00000295971:A294V;ENSP00000423243:A256V	ENSP00000295971:A294V	A	-	2	0	RBM47	40134787	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.795000	0.99099	2.630000	0.89119	0.462000	0.41574	GCC		0.622	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	50	0	0	0	1	0	3	50					A	40440030	G	A	40440030	3	1	446	1	0	0	0	0	1	0	0	0	13141	1203	42	2	916	2	RBM47	4	40440030	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		40440030	150714246	6	37569											
EDN1	1906	broad.mit.edu	37	chr6	12296198	12296198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttgctttattaggtcGgagaccatgagaaacagcgt	10	7	1	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:12296198G>A	ENST00000379375.5	+	5	804	c.537G>A	c.(535-537)tcG>tcA	p.S179S		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	179					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)	p.S179S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TTATTAGGTCGGAGACCATGA	0.393																																						ENST00000379375.5																			1	Substitution - coding silent(1)	p.S179S(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(535-537)tcG>tcA		endothelin 1							140	138	139					6																	12296198		2203	4300	6503	SO:0001819	synonymous_variant	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12296198G>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"Endogenous ligands"	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.537G>A	6.37:g.12296198G>A							p.S179S	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			5	804	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	179					Q96DA1	Silent	SNP	ENST00000379375.5	37	c.537G>A	CCDS4522.1																																																																																				0.393	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		11	146	0	0	0	1	0	11	146					A	12296198	G	A	12296198	2	1	446	1	0	0	0	0	0	0	0	1	4916	1103	39	1		1	EDN1	6	12296198	Silent	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		12296198	158818869	7	37570											
TCP10	6953	broad.mit.edu	37	chr6	167796320	167796320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccggcattgctGtcctccctggggacctcggc	12	17	1	0	rs562134831	byFrequency	TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:167796320G>A	ENST00000397829.4	-	2	209	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000366827.2_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	41						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													g|||	3	0.000599042	0.0	0.0	5008	,	,		17533	0.0		0.002	False		,,,				2504	0.001					ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(40-42)gaC>gaT		t-complex 10																																				SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167796320G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.42C>T	6.37:g.167796320G>A						TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D	p.D14D			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	2	253	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	41					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.42C>T	CCDS43527.1																																																																																				0.652	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		3	24	0	0	0	1	0	3	24					A	167796320	G	A	167796320	2	1	446	1	0	0	0	0	0	0	0	1	15707	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	155500122	167796320	3318747	8	37571											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-													tttctgaggaagtgtatacaGaggaggaggaggaggagtcc							TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						ENST00000458573.2																			0											c.(355-357)del		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del					LMOD2_ENST00000456238.2_Intron	p.E124del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			2	4						2	4	---	---	---	---	-	123301997	GAG	-	123301995	7	5	446	1	0	1	0	1	0	0	0	0	8857	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-S9-A7J2-01A-11D-A34A-08		123301995	35836668	9	37572											
MUC5B	727897	broad.mit.edu	37	chr11	1266182	1266182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtactcccccatcactgaCcaccacggccactacgatca	6	18	2	1			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:1266182C>T	ENST00000529681.1	+	31	8130	c.8072C>T	c.(8071-8073)aCc>aTc	p.T2691I	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2694I	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2691	11 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)		ccatcactgaccaccacggcc	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8080-8082)aCc>aTc		mucin 5B, oligomeric mucus/gel-forming							24	37	33					11																	1266182		1794	3931	5725	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266182C>T	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.8072C>T	11.37:g.1266182C>T	ENSP00000436812:p.Thr2691Ile					MUC5B_ENST00000529681.1_Missense_Mutation_p.T2691I|RP11-532E4.2_ENST00000532061.2_RNA	p.T2694I			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8139	+		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)	2691	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8081C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.944	-0.442769	0.04604	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.19669	2.13;2.31	2.12	-4.25	0.03766	.	.	.	.	.	T	0.16471	0.0396	M	0.63843	1.955	0.09310	N	1	B	0.24186	0.099	B	0.19666	0.026	T	0.26430	-1.0103	9	0.87932	D	0	.	1.3555	0.02181	0.148:0.2133:0.3816:0.2571	.	2694	E9PBJ0	.	I	2691;2694;2663	ENSP00000436812:T2691I;ENSP00000415793:T2694I	ENSP00000343037:T2663I	T	+	2	0	MUC5B	1222758	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.098000	0.11024	-2.154000	0.00792	-0.970000	0.02610	ACC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	10	0	0	0	1	0	6	10					T	1266182	C	T	1266182	3	4	446	1	0	0	0	0	1	0	0	0	9979	507	18	2	8203	2	MUC5B	11	1266182	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		1266182	133740334	10	37573											
RNF214	257160	broad.mit.edu	37	chr11	117153161	117153161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagatcaagacagcacGtaccaccatggcaggcctga	10	13	2	3			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:117153161G>A	ENST00000531452.1	+	12	1800	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000530849.1_Missense_Mutation_p.R430H|RNF214_ENST00000300650.4_Missense_Mutation_p.R585H	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	585							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAGACAGCACGTACCACCATG	0.517																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1288-1290)cGt>cAt		ring finger protein 214							102	101	101					11																	117153161		2010	4172	6182	SO:0001583	missense	257160						zinc ion binding	g.chr11:117153161G>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1754G>A	11.37:g.117153161G>A	ENSP00000431643:p.Arg585His					RNF214_ENST00000300650.4_Missense_Mutation_p.R585H|RNF214_ENST00000531452.1_Missense_Mutation_p.R585H|RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000524917.1_3'UTR	p.R430H			Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	11	1299	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	585					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.1289G>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796766	0.90453	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.50277	0.87;0.78;0.75;0.78	5.63	5.63	0.86233	.	0.108661	0.64402	D	0.000005	T	0.61590	0.2359	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.52749	-0.8534	10	0.22109	T	0.4	-5.2983	18.6794	0.91541	0.0:0.0:1.0:0.0	.	430;585	B4DTD1;Q8ND24	.;RN214_HUMAN	H	430;585;430;585;137	ENSP00000435361:R430H;ENSP00000431643:R585H;ENSP00000432903:R430H;ENSP00000300650:R585H	ENSP00000300650:R585H	R	+	2	0	RNF214	116658371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.654000	0.90174	0.561000	0.74099	CGT		0.517	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		28	26	0	0	0	1	0	28	26					A	117153161	G	A	117153161	3	1	446	1	0	0	0	0	1	0	0	0	13478	1145	40	1	1796	1	RNF214	11	117153161	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	115886979	117153161	17853355	11	37574											
ANO6	196527	broad.mit.edu	37	chr12	45741926	45741926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaatgatctgaaaaaccGgtcctcagcctttggtacac	7	13	2	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:45741926G>A	ENST00000320560.8	+	5	663	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q|ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	154					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGAAAAACCGGTCCTCAGCC	0.438																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(460-462)cGg>cAg		anoctamin 6							110	112	111					12																	45741926		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45741926G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.461G>A	12.37:g.45741926G>A	ENSP00000320087:p.Arg154Gln					ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q	p.R154Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			5	663	+			154					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.461G>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923678	0.34002	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.18	2.33	0.28932	.	0.267304	0.38837	N	0.001557	T	0.41143	0.1146	N	0.20881	0.62	0.36293	D	0.856558	B;B;B;B	0.33022	0.02;0.005;0.394;0.123	B;B;B;B	0.15870	0.007;0.007;0.014;0.009	T	0.39272	-0.9622	10	0.13853	T	0.58	.	8.1603	0.31194	0.3736:0.0:0.6264:0.0	.	136;175;154;154	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	Q	154;175;154;154;136	ENSP00000391417:R154Q;ENSP00000409126:R175Q;ENSP00000413840:R154Q;ENSP00000320087:R154Q;ENSP00000413137:R136Q	ENSP00000320087:R154Q	R	+	2	0	ANO6	44028193	0.037000	0.19845	0.670000	0.29842	0.914000	0.54420	1.035000	0.30216	0.827000	0.34685	0.655000	0.94253	CGG		0.438	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		41	47	0	0	0	1	0	41	47					A	45741926	G	A	45741926	3	1	446	1	0	0	0	0	1	0	0	0	701	1116	39	1	499	1	ANO6	12	45741926	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		45741926	88109969	12	37575											
COL2A1	1280	broad.mit.edu	37	chr12	48380873	48380873	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcttaccgtctgacctttCgggcccagaggaccagttgc	11	14	2	2	rs560149744		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:48380873C>T	ENST00000380518.3	-	21	1517	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	451	Triple-helical region.				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)	TCTGACCTTTCGGGCCCAGAG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18690	0.0		0.0	False		,,,				2504	0.001					ENST00000380518.3																			0				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						c.(1351-1353)ccG>ccA		collagen, type II, alpha 1	Collagenase(DB00048)						69	73	72					12																	48380873		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48380873C>T	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.1353G>A	12.37:g.48380873C>T						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P	p.P451P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			21	1517	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	451			Triple-helical region.		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	ENST00000380518.3	37	c.1353G>A	CCDS41778.1																																																																																				0.622	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		43	46	0	0	0	1	0	43	46					T	48380873	C	T	48380873	2	4	446	1	0	0	0	0	0	0	0	1	3687	871	31	1		1	COL2A1	12	48380873	Silent	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08	2638947	48380873	85471022	13	37576											
CILP	8483	broad.mit.edu	37	chr15	65491077	65491077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccagtcatgcttacaCggctgttccccatgtacaca	8	13	1	0	rs372849933		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr15:65491077C>T	ENST00000261883.4	-	9	1713	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	516					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						CATGCTTACACGGCTGTTCCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		23089	0.0		0.001	False		,,,				2504	0.0					ENST00000261883.4																			0				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						c.(1546-1548)cGt>cAt		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							79	70	73					15																	65491077		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491077C>T	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.1547G>A	15.37:g.65491077C>T	ENSP00000261883:p.Arg516His						p.R516H	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	1713	-			516					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1547G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487726	0.64074	.	.	ENSG00000138615	ENST00000261883	T	0.57273	0.41	5.95	5.95	0.96441	.	0.045450	0.85682	D	0.000000	T	0.70141	0.3190	M	0.64997	1.995	0.48185	D	0.999606	D	0.89917	1.0	D	0.66602	0.945	T	0.67035	-0.5772	10	0.44086	T	0.13	-12.9017	19.3813	0.94536	0.0:1.0:0.0:0.0	.	516	O75339	CILP1_HUMAN	H	516	ENSP00000261883:R516H	ENSP00000261883:R516H	R	-	2	0	CILP	63278130	0.996000	0.38824	0.950000	0.38849	0.953000	0.61014	4.894000	0.63206	2.824000	0.97209	0.655000	0.94253	CGT		0.582	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		21	30	0	0	0	1	0	21	30					T	65491077	C	T	65491077	3	4	446	1	0	0	0	0	1	0	0	0	3429	536	19	1	2011	1	CILP	15	65491077	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		65491077	37040315	14	37577											
PRKCB	5579	broad.mit.edu	37	chr16	23848694	23848694	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacctccttctgcttttgcAggggcttcgggaagcaggga	13	11	1	0			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr16:23848694A>G	ENST00000321728.7	+	2	348		c.e2-1		PRKCB_ENST00000303531.7_Splice_Site|PRKCB_ENST00000498058.1_Intron	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						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)	CTGCTTTTGCAGGGGCTTCGG	0.567																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.e2-1		protein kinase C, beta	Vitamin E(DB00163)						113	123	120					16																	23848694		2197	4300	6497	SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23848694A>G	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.174-1A>G	16.37:g.23848694A>G						PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Splice_Site		NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			2	325	+								C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Splice_Site	SNP	ENST00000321728.7	37		CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384482	0.82792	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7251	0.57166	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCB	23756195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.520000	0.90566	1.940000	0.56252	0.533000	0.62120	.		0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Intron	4	169	0	0	0	1	0	4	169					G	23848694	A	G	23848694	5	3	446	1	0	0	0	0	0	0	1	0	12508	202	7	3	178	3	PRKCB	16	23848694	Splice_Site	SNP	A	TCGA-S9-A7J2-01A-11D-A34A-08		23848694	66506059	15	37578											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	13	13	0	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000572681.2_Missense_Mutation_p.R1110W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		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)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	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						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65	70	68					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	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.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	5	0	0	0	1	0	32	5					T	42791715	C	T	42791715	3	4	446	1	0	0	0	0	1	0	0	0	3424	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		42791715	16337268	16	37579											
BCORL1	63035	broad.mit.edu	37	chrX	129155055	129155055	+	Frame_Shift_Del	DEL	G	G	-													cacaatggagtcaggggaaaGcacaagcaccggaagccgac							TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chrX:129155055delG	ENST00000218147.7	+	5	3734	c.3537delG	c.(3535-3537)aagfs	p.K1179fs	BCORL1_ENST00000540052.1_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1179					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						TCAGGGGAAAGCACAAGCACC	0.622																																						ENST00000540052.1																			0				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						c.(3535-3537)aafs		BCL6 corepressor-like 1							39	40	39					X																	129155055		2203	4300	6503	SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155055delG	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.3537delG	X.37:g.129155055delG	ENSP00000218147:p.Lys1179fs					BCORL1_ENST00000218147.7_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs	p.K1179fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			4	3581	+			1179					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.3537delG	CCDS14616.1																																																																																				0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		15	3						15	3	---	---	---	---	-	129155055	G	-	129155055	7	5	446	1	0	1	0	1	0	0	0	0	1387	962	34	0	3551	0	BCORL1	23	129155055	Frame_Shift_Del	DEL	G	TCGA-S9-A7J2-01A-11D-A34A-08		129155055	26115505	17	37580											
AHDC1	27245	broad.mit.edu	37	chr1	27877971	27877971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacccgtggccgcagccGtggctccgggactatggcct	15	15	0	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:27877971G>A	ENST00000247087.5	-	5	1252	c.656C>T	c.(655-657)aCg>aTg	p.T219M	AHDC1_ENST00000374011.2_Missense_Mutation_p.T219M			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	219	Pro-rich.						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)		GGCCGCAGCCGTGGCTCCGGG	0.652																																						ENST00000374011.2																			0				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						c.(655-657)aCg>aTg		AT hook, DNA binding motif, containing 1							31	36	35					1																	27877971		2203	4299	6502	SO:0001583	missense	27245						DNA binding	g.chr1:27877971G>A	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.656C>T	1.37:g.27877971G>A	ENSP00000247087:p.Thr219Met					AHDC1_ENST00000247087.5_Missense_Mutation_p.T219M|AHDC1_ENST00000482400.2_5'UTR	p.T219M	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		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)	6	1624	-		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)	219			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.656C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356567	0.24598	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.51071	0.72;0.72	4.06	3.14	0.36123	.	.	.	.	.	T	0.24470	0.0593	N	0.08118	0	0.22918	N	0.998564	B	0.24576	0.106	B	0.09377	0.004	T	0.12319	-1.0552	9	0.54805	T	0.06	-0.72	5.5841	0.17266	0.1082:0.0:0.6964:0.1954	.	219	Q5TGY3	AHDC1_HUMAN	M	219	ENSP00000247087:T219M;ENSP00000363123:T219M	ENSP00000247087:T219M	T	-	2	0	AHDC1	27750558	0.408000	0.25360	0.735000	0.30896	0.516000	0.34256	1.154000	0.31688	1.009000	0.39289	0.467000	0.42956	ACG		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			26	11	0	0	0	1	0	26	11					A	27877971	G	A	27877971	3	1	447	1	0	0	0	0	1	0	0	0	412	1145	40	1	4159	1	AHDC1	1	27877971	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		27877971	221372650	1	37581											
FUBP1	8880	broad.mit.edu	37	chr1	78430433	78430433	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaccatttccttggcttgCtaaagcagaaaaagttagct	7	9	0	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430433C>T	ENST00000370768.2	-	10	817		c.e10-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370767.1_Splice_Site	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCTTGGCTTGCTAAAGCAGAA	0.373			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e10-1		far upstream element (FUSE) binding protein 1							106	108	107					1																	78430433		2203	4300	6503	SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430433C>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.736-1G>A	1.37:g.78430433C>T						FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site				Q96AE4	FUBP1_HUMAN			10	823	-								Q12828	Splice_Site	SNP	ENST00000370768.2	37		CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193912	0.78902	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.69	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9346	0.70944	0.0:0.9303:0.0:0.0697	.	.	.	.	.	-1	.	.	.	-	.	.	FUBP1	78203021	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.082000	0.71318	2.678000	0.91216	0.650000	0.86243	.		0.373	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Intron	10	54	0	0	0	1	0	10	54					T	78430433	C	T	78430433	5	4	447	1	0	0	0	0	0	0	1	0	6092	811	28	2	1243	2	FUBP1	1	78430433	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	50552462	78430433	170820188	2	37582											
FUBP1	8880	broad.mit.edu	37	chr1	78430905	78430906	+	Frame_Shift_Ins	INS	-	-	T													acaatctggtccagtaaccgINSttttgctgacctgttaacaa							TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430905_78430906insT	ENST00000370768.2	-	8	564_565	c.483_484insA	c.(481-486)aaacggfs	p.R162fs	FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.R183fs|FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.R162fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	162	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCAGTAACCGTTTTGCTGACC	0.381			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(481-486)aaggttfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430905_78430906insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.484dupA	1.37:g.78430909_78430909dupT	ENSP00000359804:p.Arg162fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.V162fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.V183fs	p.V162fs			Q96AE4	FUBP1_HUMAN			8	570_571	-			162			KH 1.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.483_484insA	CCDS683.1																																																																																				0.381	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		8	75						8	75	---	---	---	---	T	78430906	-	T	78430905	7	5	447	1	0	1	1	0	0	0	0	0	6092	1144	40	0	1502	0	FUBP1	1	78430905	Frame_Shift_Ins	INS	-	TCGA-S9-A7J3-01A-21D-A34J-08	472	78430905	170819716	3	37583											
PTPN7	5778	broad.mit.edu	37	chr1	202124738	202124738	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagacacggctctggggatCtaggaaataaaaatcagcag	11	8	3	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:202124738C>T	ENST00000308986.5	-	5	522		c.e5-1		PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Splice_Site|PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCTGGGGATCTAGGAAATAA	0.527																																						ENST00000309017.3																			1	Unknown(1)	p.?(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.e5-1		protein tyrosine phosphatase, non-receptor type 7							60	55	57					1																	202124738		2203	4300	6503	SO:0001630	splice_region_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124738C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.392-1G>A	1.37:g.202124738C>T						PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Splice_Site		NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			5	1480	-								B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Splice_Site	SNP	ENST00000308986.5	37			.	.	.	.	.	.	.	.	.	.	C	23.6	4.440487	0.83993	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000477625;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8477	0.92213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN7	200391361	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.900000	0.75687	2.449000	0.82847	0.655000	0.94253	.		0.527	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832	Intron	4	39	0	0	0	1	0	4	39					T	202124738	C	T	202124738	5	4	447	1	0	0	0	0	0	0	1	0	12793	927	32	2	715	2	PTPN7	1	202124738	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	123693833	202124738	47125883	4	37584											
PM20D1	148811	broad.mit.edu	37	chr1	205819111	205819111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgccctttgatgctccccGctcctcgggcccatcgatct	9	18	1	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:205819111G>T	ENST00000367136.4	-	1	134	c.90C>A	c.(88-90)agC>agA	p.S30R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	30					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGCTCCCCGCTCCTCGGGC	0.602																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(88-90)agC>agA		peptidase M20 domain containing 1							80	80	80					1																	205819111		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819111G>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.90C>A	1.37:g.205819111G>T	ENSP00000356104:p.Ser30Arg					PM20D1_ENST00000460624.1_5'UTR	p.S30R	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	134	-	Breast(84;0.201)		30					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.90C>A	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	G	6.936	0.542463	0.13250	.	.	ENSG00000162877	ENST00000367136	T	0.06687	3.27	4.96	3.08	0.35506	.	0.928793	0.09305	N	0.820302	T	0.05593	0.0147	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46748	-0.9169	10	0.15066	T	0.55	.	6.0224	0.19636	0.0957:0.0:0.7174:0.1869	.	30	Q6GTS8	P20D1_HUMAN	R	30	ENSP00000356104:S30R	ENSP00000356104:S30R	S	-	3	2	PM20D1	204085734	0.014000	0.17966	0.001000	0.08648	0.003000	0.03518	1.767000	0.38501	0.659000	0.30945	0.655000	0.94253	AGC		0.602	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		4	77	1	0	0.184627	1	0.184627	4	77					T	205819111	G	T	205819111	3	4	447	1	0	0	0	0	1	0	0	0	12128	1078	38	4	1470	4	PM20D1	1	205819111	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	3694373	205819111	43431510	5	37585											
CPSF3	51692	broad.mit.edu	37	chr2	9607904	9607904	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttggagatcatgctcCagtaagtttttcacccatta	9	8	2	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:9607904C>T	ENST00000238112.3	+	16	2061	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000460593.1_Splice_Site_p.Q582*	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	619					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)		GATCATGCTCCAGTAAGTTTT	0.468																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e16+1		cleavage and polyadenylation specific factor 3, 73kDa							80	74	76					2																	9607904		2203	4300	6503	SO:0001630	splice_region_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9607904C>T	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.1856+1C>T	2.37:g.9607904C>T						CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Splice_Site_p.Q619_splice	p.Q582_splice			Q9UKF6	CPSF3_HUMAN		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)	16	2882	+	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)	619					O14769|Q53RS2|Q96F36	Splice_Site	SNP	ENST00000238112.3	37	c.1745_splice	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	37	6.248317	0.97412	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-19.2249	18.8441	0.92198	0.0:1.0:0.0:0.0	.	.	.	.	X	619;341;582	.	ENSP00000238112:Q619X	Q	+	1	0	CPSF3	9525355	0.997000	0.39634	0.972000	0.41901	0.123000	0.20343	4.673000	0.61604	2.738000	0.93877	0.655000	0.94253	CAG		0.468	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	Nonsense_Mutation	5	56	0	0	0	1	0	5	56					T	9607904	C	T	9607904	5	4	447	1	0	0	0	0	0	0	1	0	3826	608	21	2	1917	2	CPSF3	2	9607904	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		9607904	233591469	6	37586											
TTN	7273	broad.mit.edu	37	chr2	179429186	179429186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaattcagtttctaataCgttggtaaagctggctttca	8	6	3	0	rs375211424		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:179429186C>T	ENST00000591111.1	-	276	76974	c.76750G>A	c.(76750-76752)Gta>Ata	p.V25584I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27225I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I			Q8WZ42	TITIN_HUMAN	titin	25584	Fibronectin type-III 86. {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)	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(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)			GTTTCTAATACGTTGGTAAAG	0.383													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22092	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			5	Substitution - Missense(5)	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)	lung(5)	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						c.(81673-81675)Gta>Ata		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,3702		0,0,1851	67	62	63		54478,73969,54853,55054	6.2	1	2		63	1,8193		0,1,4096	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,5947	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	18160/26927,24657/33424,18285/27052,18352/27119	179429186	1,11895	1851	4097	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429186C>T	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.76750G>A	2.37:g.179429186C>T	ENSP00000465570:p.Val25584Ile					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V27225I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81897	-			25584			Fibronectin type-III 98.		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	ENST00000591111.1	37	c.81673G>A		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139278	0.37728	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42449	0.1203	N	0.21142	0.635	0.49687	D	0.999815	P;P;P;P	0.37083	0.581;0.581;0.581;0.581	B;B;B;B	0.30782	0.12;0.12;0.12;0.12	T	0.44251	-0.9340	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	18160;18285;18352;25584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	24657;18160;18352;18285;18158	ENSP00000343764:V24657I;ENSP00000434586:V18160I;ENSP00000340554:V18352I;ENSP00000352154:V18285I	ENSP00000340554:V18352I	V	-	1	0	TTN	179137432	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.850000	0.62889	2.937000	0.99478	0.650000	0.86243	GTA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	23	0	0	0	1	0	3	23					T	179429186	C	T	179429186	3	4	447	1	0	0	0	0	1	0	0	0	16732	536	19	1	26454	1	TTN	2	179429186	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	169821282	179429186	63770187	7	37587											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	70	0	0	0	1	0	26	70					T	209113112	C	T	209113112	3	4	447	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	29683926	209113112	34086261	8	37588											
TMEM40	55287	broad.mit.edu	37	chr3	12783983	12783983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagctcatccttcaaaaCgtcaggctccccatgcccag	7	15	3	1	rs544710139		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12783983C>T	ENST00000314124.7	-	5	681	c.325G>A	c.(325-327)Gtt>Att	p.V109I	TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I|TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000476331.1_5'Flank|TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCTTCAAAACGTCAGGCTCC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20723	0.0		0.0	False		,,,				2504	0.001					ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(325-327)Gtt>Att		transmembrane protein 40							127	123	124					3																	12783983		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12783983C>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.325G>A	3.37:g.12783983C>T	ENSP00000322837:p.Val109Ile					TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I|TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I	p.V109I	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			5	681	-			109					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.325G>A	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	1.933	-0.445481	0.04604	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000428020;ENST00000264728;ENST00000431022	.	.	.	4.62	-7.14	0.01527	.	0.938309	0.08790	N	0.893337	T	0.13841	0.0335	N	0.05199	-0.095	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.001	B;B;B;B	0.08055	0.003;0.001;0.001;0.002	T	0.29792	-1.0000	9	0.23302	T	0.38	-18.2469	8.3923	0.32535	0.0:0.1597:0.2333:0.607	.	125;33;79;109	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	I	109;33;79;12;109;125	.	ENSP00000264728:V109I	V	-	1	0	TMEM40	12758983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.258000	0.01179	-1.605000	0.01593	-0.794000	0.03295	GTT		0.512	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		5	107	0	0	0	1	0	5	107					T	12783983	C	T	12783983	3	4	447	1	0	0	0	0	1	0	0	0	16160	536	19	1	408	1	TMEM40	3	12783983	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		12783983	185238447	9	37589											
TMEM40	55287	broad.mit.edu	37	chr3	12790221	12790221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaagaagacttGtttctctcatattgttcttg	12	5	3	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12790221G>T	ENST00000314124.7	-	3	500	c.144C>A	c.(142-144)aaC>aaA	p.N48K	TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	48						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						aagaagaCTTGTTTCTCTCAT	0.448																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(142-144)aaC>aaA		transmembrane protein 40							256	238	244					3																	12790221		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12790221G>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.144C>A	3.37:g.12790221G>T	ENSP00000322837:p.Asn48Lys					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K|TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K	p.N48K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	500	-			48					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.144C>A	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	G	3.612	-0.079315	0.07141	.	.	ENSG00000088726	ENST00000314124;ENST00000435218;ENST00000264728;ENST00000431022	.	.	.	3.62	1.82	0.25136	.	0.566531	0.15966	N	0.236012	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B;B;B	0.18310	0.027;0.0;0.007	B;B;B	0.14023	0.01;0.0;0.003	T	0.15723	-1.0427	9	0.52906	T	0.07	.	5.8145	0.18486	0.244:0.0:0.756:0.0	.	64;48;48	B4DXI0;Q8WWA1-2;Q8WWA1	.;.;TMM40_HUMAN	K	48;48;48;64	.	ENSP00000264728:N48K	N	-	3	2	TMEM40	12765221	0.997000	0.39634	0.032000	0.17829	0.071000	0.16799	0.811000	0.27198	0.518000	0.28383	0.561000	0.74099	AAC		0.448	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		47	124	1	0	3.76525e-18	1	4.14177e-18	47	124					T	12790221	G	T	12790221	3	4	447	1	0	0	0	0	1	0	0	0	16160	1368	48	4	597	4	TMEM40	3	12790221	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	6238	12790221	185232209	10	37590											
AASDH	132949	broad.mit.edu	37	chr4	57221383	57221383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtcttctctggaatcctAtaaatggtcgcccaacttga	8	10	2	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr4:57221383A>G	ENST00000205214.6	-	6	1248	c.1068T>C	c.(1066-1068)taT>taC	p.Y356Y	AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000451613.1_Silent_p.Y356Y|AASDH_ENST00000502617.1_Silent_p.Y356Y|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	356					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGGAATCCTATAAATGGTCG	0.368																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(1066-1068)taT>taC		aminoadipate-semialdehyde dehydrogenase							78	75	76					4																	57221383		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221383A>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1068T>C	4.37:g.57221383A>G						AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000502617.1_Silent_p.Y356Y|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.Y356Y	p.Y356Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			6	1248	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	356					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.1068T>C	CCDS3504.1																																																																																				0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		9	68	0	0	0	1	0	9	68					G	57221383	A	G	57221383	2	3	447	1	0	0	0	0	0	0	0	1	22	456	16	3		3	AASDH	4	57221383	Silent	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		57221383	133932893	11	37591											
TGFBI	7045	broad.mit.edu	37	chr5	135383017	135383017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaccaccatgcaaccaacGgggtggtgcacctcatcgat	10	15	1	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:135383017G>A	ENST00000442011.2	+	6	840	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	227	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAACCAACGGGGTGGTGCA	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(679-681)Ggg>Agg		transforming growth factor, beta-induced, 68kDa							167	164	165					5																	135383017		2125	4224	6349	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383017G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.679G>A	5.37:g.135383017G>A	ENSP00000416330:p.Gly227Arg					TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	840	+			227			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.679G>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.626135|5.626135	0.96671|0.96671	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000305126|ENST00000508767	D;D|.	0.94138|.	-3.36;-3.36|.	6.0|6.0	6.0|6.0	0.97389|0.97389	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91341|0.91341	0.7269|0.7269	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93765|0.93765	0.7070|0.7070	10|5	0.87932|.	D|.	0|.	-19.1517|-19.1517	20.5597|20.5597	0.99324|0.99324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227|.	Q15582|.	BGH3_HUMAN|.	R|Q	227|2	ENSP00000416330:G227R;ENSP00000306306:G227R|.	ENSP00000306306:G227R|.	G|R	+|+	1|2	0|0	TGFBI|TGFBI	135410916|135410916	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.974000|0.974000	0.67602|0.67602	9.865000|9.865000	0.99609|0.99609	2.868000|2.868000	0.98415|0.98415	0.556000|0.556000	0.70494|0.70494	GGG|CGG		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			4	152	0	0	0	1	0	4	152					A	135383017	G	A	135383017	3	1	447	1	0	0	0	0	1	0	0	0	15817	1116	39	1	701	1	TGFBI	5	135383017	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		135383017	45532243	12	37592											
KDM3B	51780	broad.mit.edu	37	chr5	137721798	137721798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggccggaggaggaaaagtGcttcggactctgggtgtgac	17	7	1	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:137721798G>T	ENST00000314358.5	+	7	1068	c.868G>T	c.(868-870)Gct>Tct	p.A290S	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	290					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						GAGGAAAAGTGCTTCGGACTC	0.483																																						ENST00000314358.5																			0				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						c.(868-870)Gct>Tct		lysine (K)-specific demethylase 3B							80	92	88					5																	137721798		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721798G>T	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.868G>T	5.37:g.137721798G>T	ENSP00000326563:p.Ala290Ser						p.A290S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			7	1068	+			290					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.868G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374742	0.24857	.	.	ENSG00000120733	ENST00000314358;ENST00000545151	T	0.64618	-0.11	5.44	4.55	0.56014	.	0.329918	0.31020	N	0.008403	T	0.49218	0.1544	N	0.24115	0.695	0.80722	D	1	B	0.18461	0.028	B	0.09377	0.004	T	0.46176	-0.9210	10	0.62326	D	0.03	-2.5098	14.4358	0.67279	0.0:0.2807:0.7193:0.0	.	290	Q7LBC6	KDM3B_HUMAN	S	290;80	ENSP00000326563:A290S	ENSP00000326563:A290S	A	+	1	0	KDM3B	137749697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.704000	0.61831	1.246000	0.43901	0.557000	0.71058	GCT		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		4	76	1	0	0.150653	1	0.153443	4	76					T	137721798	G	T	137721798	3	4	447	1	0	0	0	0	1	0	0	0	8127	1319	46	4	894	4	KDM3B	5	137721798	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	2338781	137721798	43193462	13	37593											
RBM27	54439	broad.mit.edu	37	chr5	145610427	145610427	+	Frame_Shift_Del	DEL	C	C	-													ctataacaatcatagctcttCcaattcttttggtcgaaacc							TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:145610427delC	ENST00000265271.5	+	6	963	c.797delC	c.(796-798)tccfs	p.S266fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	266					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)			CATAGCTCTTCCAATTCTTTT	0.423																																						ENST00000265271.5																			0				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						c.(796-798)tcfs		RNA binding motif protein 27							125	109	114					5																	145610427		1568	3582	5150	SO:0001589	frameshift_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145610427delC	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.797delC	5.37:g.145610427delC	ENSP00000265271:p.Ser266fs					RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	963	+			266					Q8IYW9	Frame_Shift_Del	DEL	ENST00000265271.5	37	c.797delC	CCDS43378.1																																																																																				0.423	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		20	80						20	80	---	---	---	---	-	145610427	C	-	145610427	7	5	447	1	0	1	0	1	0	0	0	0	13127	855	30	0	819	0	RBM27	5	145610427	Frame_Shift_Del	DEL	C	TCGA-S9-A7J3-01A-21D-A34J-08	7888629	145610427	35304833	14	37594											
CRISP1	167	broad.mit.edu	37	chr6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtagttatgtcatcatccGttgttgtccattctccatgt	7	10	3	0	rs139194307		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20949	0.0		0.0	False		,,,				2504	0.0					ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(400-402)aCg>aTg		cysteine-rich secretory protein 1		G	MET/THR,MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	435	342	374		401,401,401	-1.7	0	6	dbSNP_134	374	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	81,81,81	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign,benign	134/250,134/250,134/179	49814267	5,13001	2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814267G>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.401C>T	6.37:g.49814267G>A	ENSP00000338276:p.Thr134Met					CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			5	502	-	Lung NSC(77;0.0358)		134					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.401C>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407392	0.25378	9.08E-4	1.16E-4	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.04	-1.68	0.08212	CAP domain (3);	0.423075	0.17524	N	0.171152	T	0.03053	0.0090	M	0.87269	2.87	0.09310	N	1	B;B	0.32829	0.161;0.386	B;B	0.25759	0.024;0.063	T	0.28332	-1.0047	9	.	.	.	.	1.6413	0.02753	0.3404:0.1558:0.3826:0.1212	.	134;134	P54107-2;P54107	.;CRIS1_HUMAN	M	134	ENSP00000425020:T134M;ENSP00000338276:T134M;ENSP00000348044:T134M;ENSP00000331317:T134M;ENSP00000427589:T134M;ENSP00000441798:T134M	.	T	-	2	0	CRISP1	49922226	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.721000	0.00811	-0.338000	0.08413	0.561000	0.74099	ACG		0.398	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		4	86	0	0	0	1	0	4	86					A	49814267	G	A	49814267	3	1	447	1	0	0	0	0	1	0	0	0	3879	1145	40	1	364	1	CRISP1	6	49814267	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		49814267	121300800	15	37595											
SYNJ2	8871	broad.mit.edu	37	chr6	158454620	158454620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaggcctgcctcgtcTctcgcgttagctgtgagcgc	13	14	1	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:158454620T>C	ENST00000355585.4	+	4	694	c.619T>C	c.(619-621)Tct>Cct	p.S207P	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	207	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)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCCTCGTCTCTCGCGTTAG	0.622																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(619-621)Tct>Cct		synaptojanin 2							98	75	83					6																	158454620		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158454620T>C	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.619T>C	6.37:g.158454620T>C	ENSP00000347792:p.Ser207Pro					SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P	p.S207P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	4	694	+			207			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.619T>C	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734107	0.69189	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.09	5.09	0.68999	Synaptojanin, N-terminal (2);	0.000000	0.64402	D	0.000017	D	0.89574	0.6754	H	0.98849	4.35	0.80722	D	1	D;P;D;D	0.89917	1.0;0.93;1.0;1.0	D;P;D;D	0.87578	0.998;0.861;0.998;0.997	D	0.92990	0.6414	10	0.87932	D	0	.	15.0288	0.71691	0.0:0.0:0.0:1.0	.	156;207;207;207	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	P	207;207;207;156	ENSP00000356089:S207P;ENSP00000356088:S207P;ENSP00000347792:S207P;ENSP00000388371:S156P	ENSP00000347792:S207P	S	+	1	0	SYNJ2	158374608	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	4.468000	0.60162	2.660000	0.90430	0.591000	0.81541	TCT		0.622	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			4	53	0	0	0	1	0	4	53					C	158454620	T	C	158454620	3	2	447	1	0	0	0	0	1	0	0	0	15450	1551	54	3	633	3	SYNJ2	6	158454620	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08	108640353	158454620	12660447	16	37596											
MCM7	4176	broad.mit.edu	37	chr7	99697242	99697242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactgaggcagcagctcTtgtacggcatcagcaaagag	12	9	2	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:99697242T>C	ENST00000303887.5	-	3	891	c.246A>G	c.(244-246)caA>caG	p.Q82Q	AP4M1_ENST00000429084.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000343023.6_Silent_p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	82					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGCAGCTCTTGTACGGCAT	0.532																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(244-246)caA>caG		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						147	145	146					7																	99697242		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99697242T>C		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.246A>G	7.37:g.99697242T>C						MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.Q82Q	p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			3	891	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		82					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.246A>G	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	T	9.862	1.196581	0.22037	.	.	ENSG00000166508	ENST00000542483	.	.	.	4.56	-4.14	0.03892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1117	0.30917	0.1535:0.6156:0.0:0.2308	.	.	.	.	.	-1	.	.	.	-	.	.	MCM7	99535178	0.621000	0.27077	0.703000	0.30354	0.874000	0.50279	-0.391000	0.07323	-0.685000	0.05177	0.455000	0.32223	.		0.532	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			43	69	0	0	0	1	0	43	69					C	99697242	T	C	99697242	2	2	447	1	0	0	0	0	0	0	0	1	9392	1606	56	3		3	MCM7	7	99697242	Silent	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		99697242	59441421	17	37597											
MLL3	58508	broad.mit.edu	37	chr7	151845755	151845755	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccaagtcaaggttgagTagccttgctggtccatctgt	11	9	2	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:151845755T>C	ENST00000262189.6	-	52	13475	c.13257A>G	c.(13255-13257)ctA>ctG	p.L4419L	KMT2C_ENST00000355193.2_Silent_p.L4476L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4419					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)										CAAGGTTGAGTAGCCTTGCTG	0.493																																						ENST00000355193.2																			0											c.(13426-13428)ctA>ctG		lysine (K)-specific methyltransferase 2C							94	86	88					7																	151845755		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151845755T>C	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.13257A>G	7.37:g.151845755T>C						KMT2C_ENST00000262189.6_Silent_p.L4419L	p.L4476L							53	13646	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.13428A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.109	0.575733	0.13623	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.1	2.08	0.27032	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29518	-1.0009	4	.	.	.	.	1.3684	0.02205	0.1868:0.4029:0.2303:0.18	.	.	.	.	A	1980	.	.	T	-	1	0	MLL3	151476688	0.968000	0.33430	1.000000	0.80357	0.938000	0.57974	0.107000	0.15375	0.643000	0.30638	-0.475000	0.04921	ACT		0.493	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	50	0	0	0	1	0	30	50					C	151845755	T	C	151845755	2	2	447	1	0	0	0	0	0	0	0	1	9622	1625	57	3		3	MLL3	7	151845755	Silent	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08	52148513	151845755	7292908	18	37598											
RNF19A	25897	broad.mit.edu	37	chr8	101287223	101287223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataactaatggatgaagaacGtatagttctcaaacgtaagc	8	6	1	2	rs547631774		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr8:101287223G>A	ENST00000519449.1	-	4	1157	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	281					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)			GATGAAGAACGTATAGTTCTC	0.378													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16555	0.0		0.0	False		,,,				2504	0.0					ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(841-843)Cgt>Tgt		ring finger protein 19A, RBR E3 ubiquitin protein ligase							82	81	82					8																	101287223		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101287223G>A	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.841C>T	8.37:g.101287223G>A	ENSP00000428968:p.Arg281Cys					RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	p.R281C	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	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)		4	1157	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		281					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.841C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487222	0.84854	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85013	-1.93;-1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	D	0.89669	0.3882	10	0.54805	T	0.06	.	19.2824	0.94057	0.0:0.0:1.0:0.0	.	281	Q9NV58	RN19A_HUMAN	C	281	ENSP00000428968:R281C;ENSP00000342667:R281C	ENSP00000342667:R281C	R	-	1	0	RNF19A	101356399	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.492000	0.81482	2.880000	0.98712	0.650000	0.86243	CGT		0.378	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		46	79	0	0	0	1	0	46	79					A	101287223	G	A	101287223	3	1	447	1	0	0	0	0	1	0	0	0	13470	1145	40	1	1707	1	RNF19A	8	101287223	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		101287223	45076799	19	37599											
USP54	159195	broad.mit.edu	37	chr10	75260418	75260418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggagttacctgggAgtctattgggctcccctgcc	14	10	1	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr10:75260418A>G	ENST00000339859.4	-	22	4590	c.4490T>C	c.(4489-4491)cTc>cCc	p.L1497P	RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1497					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)					GTTACCTGGGAGTCTATTGGG	0.522																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(4489-4491)cTc>cCc		ubiquitin specific peptidase 54							83	83	83					10																	75260418		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75260418A>G	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.4490T>C	10.37:g.75260418A>G	ENSP00000345216:p.Leu1497Pro					RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|RP11-137L10.6_ENST00000593790.1_RNA	p.L1497P			Q70EL1	UBP54_HUMAN			22	4590	-	Prostate(51;0.0112)		1497					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.4490T>C	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	a	10.50	1.366568	0.24771	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.21543	2.02;2.02;2.02;2.0;2.0	5.35	2.29	0.28610	.	.	.	.	.	T	0.05410	0.0143	N	0.00972	-1.085	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22626	-1.0211	9	0.26408	T	0.33	0.8704	2.922	0.05772	0.2217:0.1215:0.5322:0.1246	.	632;1497	E7EW90;Q70EL1	.;UBP54_HUMAN	P	1497;1497;1347;538;632	ENSP00000345216:L1497P;ENSP00000386080:L1497P;ENSP00000408714:L1347P;ENSP00000378290:L538P;ENSP00000407368:L632P	ENSP00000345216:L1497P	L	-	2	0	USP54	74930424	0.970000	0.33590	0.993000	0.49108	0.970000	0.65996	0.473000	0.22132	0.621000	0.30232	-0.505000	0.04504	CTC		0.522	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		16	52	0	0	0	1	0	16	52					G	75260418	A	G	75260418	3	3	447	1	0	0	0	0	1	0	0	0	17082	304	11	3	572	3	USP54	10	75260418	Missense_Mutation	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		75260418	60274329	20	37600											
AHNAK	79026	broad.mit.edu	37	chr11	62301031	62301031	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtacctctactgccctAcccccaagagaagatgaaat	6	15	1	3	rs201909891		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62301031A>G	ENST00000378024.4	-	5	1132	c.858T>C	c.(856-858)ggT>ggC	p.G286G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	286					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)				CTACTGCCCTACCCCCAAGAG	0.517																																						ENST00000378024.4																			0				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						c.(856-858)ggT>ggC		AHNAK nucleoprotein							115	101	106					11																	62301031		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301031A>G	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.858T>C	11.37:g.62301031A>G						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G286G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1132	-		Melanoma(852;0.155)	286					A1A586	Silent	SNP	ENST00000378024.4	37	c.858T>C	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		32	60	0	0	0	1	0	32	60					G	62301031	A	G	62301031	2	3	447	1	0	0	0	0	0	0	0	1	414	378	14	3		3	AHNAK	11	62301031	Silent	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		62301031	72705485	21	37601											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455807	62455807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtagctccttgcagggCacctgcaggtgtcggcagtg	14	12	1	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62455807C>T	ENST00000317449.4	-	2	651	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	58						integral component of membrane (GO:0016021)				cervix(1)|kidney(1)	2						CCTTGCAGGGCACCTGCAGGT	0.682																																						ENST00000317449.4																			0				cervix(1)|kidney(1)	2						c.(172-174)gtG>gtA		LRRN4 C-terminal like							13	14	13					11																	62455807		2148	4213	6361	SO:0001819	synonymous_variant	221091					integral to membrane		g.chr11:62455807C>T	AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"Fibronectin type III domain containing"	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.174G>A	11.37:g.62455807C>T							p.V58V	NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN			2	651	-			58					A8K5L9	Silent	SNP	ENST00000317449.4	37	c.174G>A	CCDS8030.1																																																																																				0.682	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395168.1	NM_203422		7	24	0	0	0	1	0	7	24					T	62455807	C	T	62455807	2	4	447	1	0	0	0	0	0	0	0	1	9038	697	25	2		2	LRRN4CL	11	62455807	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	154776	62455807	72550709	22	37602											
LARP4	113251	broad.mit.edu	37	chr12	50860853	50860853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaatgccaggtgaactcGttttggagaataggatgtct	12	6	1	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr12:50860853G>A	ENST00000398473.2	+	13	1607	c.1495G>A	c.(1495-1497)Gtt>Att	p.V499I	LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	499					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGGTGAACTCGTTTTGGAGAA	0.393																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1495-1497)Gtt>Att		La ribonucleoprotein domain family, member 4							110	97	101					12																	50860853		1852	4099	5951	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50860853G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1495G>A	12.37:g.50860853G>A	ENSP00000381490:p.Val499Ile					LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I	p.V499I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			13	1607	+			499					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1495G>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261562	0.23051	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	4.89	0.666	0.17901	.	0.329465	0.31370	N	0.007762	T	0.29749	0.0743	L	0.61218	1.895	0.09310	N	0.999998	B;B;B;B;B;B	0.26400	0.007;0.024;0.148;0.002;0.008;0.012	B;B;B;B;B;B	0.18871	0.009;0.019;0.023;0.003;0.008;0.013	T	0.16571	-1.0398	10	0.37606	T	0.19	.	8.2985	0.31999	0.0712:0.1074:0.6926:0.1289	.	400;498;428;428;499;505	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	I	428;505;499;498;400;428	ENSP00000293618:V428I;ENSP00000415464:V505I;ENSP00000381490:V499I;ENSP00000429077:V498I;ENSP00000340901:V428I	ENSP00000293618:V428I	V	+	1	0	LARP4	49147120	0.964000	0.33143	0.612000	0.29024	0.787000	0.44495	1.692000	0.37731	0.008000	0.14787	-1.360000	0.01215	GTT		0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		4	60	0	0	0	1	0	4	60					A	50860853	G	A	50860853	3	1	447	1	0	0	0	0	1	0	0	0	8630	1145	40	1	1549	1	LARP4	12	50860853	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		50860853	82991042	23	37603											
PRMT5	10419	broad.mit.edu	37	chr14	23395463	23395463	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccccaagccagcgaTcaatgacatgattagatggg	12	10	1	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:23395463T>G	ENST00000324366.8	-	7	879	c.656A>C	c.(655-657)gAt>gCt	p.D219A	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	219	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAGCCAGCGATCAATGACATG	0.478																																						ENST00000324366.8																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25						c.(655-657)gAt>gCt		protein arginine methyltransferase 5							89	93	92					14																	23395463		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23395463T>G	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.656A>C	14.37:g.23395463T>G	ENSP00000319169:p.Asp219Ala					PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A	p.D219A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	7	879	-	all_cancers(95;2.76e-05)		219					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.656A>C	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781391	0.49891	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000555530;ENST00000554867;ENST00000556616	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.52206	1.635	0.80722	D	1	B;P;P;B	0.41232	0.12;0.47;0.743;0.203	B;B;B;B	0.40506	0.061;0.3;0.331;0.159	T	0.53373	-0.8448	9	0.32370	T	0.25	-18.2353	14.8375	0.70194	0.0:0.0:0.0:1.0	.	175;158;219;202	G3V5W5;B4DX49;O14744;A8MZ91	.;.;ANM5_HUMAN;.	A	219;202;158;113;175;114;174;181	.	ENSP00000216350:D158A	D	-	2	0	PRMT5	22465303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.324000	0.79115	2.200000	0.70718	0.459000	0.35465	GAT		0.478	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			4	84	0	0	0	1	0	4	84					G	23395463	T	G	23395463	3	3	447	1	0	0	0	0	1	0	0	0	12539	1435	50	5	1301	5	PRMT5	14	23395463	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		23395463	83954077	24	37604											
DDX24	57062	broad.mit.edu	37	chr14	94545908	94545908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagggattcttggcagGggagaccaactggtaatctg	15	7	2	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:94545908G>A	ENST00000330836.5	-	2	312	c.181C>T	c.(181-183)Cct>Tct	p.P61S	IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.P18S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	61					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTCTTGGCAGGGGAGACCAAC	0.468																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(181-183)Cct>Tct		DEAD (Asp-Glu-Ala-Asp) box helicase 24							211	204	207					14																	94545908		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545908G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"DEAD-boxes"	13266	protein-coding gene	gene with protein product		606181	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.181C>T	14.37:g.94545908G>A	ENSP00000328690:p.Pro61Ser					DDX24_ENST00000555054.1_Missense_Mutation_p.P18S|DDX24_ENST00000544005.1_Intron	p.P61S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	312	-		all_cancers(154;0.12)	61					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.181C>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	3.745	-0.052706	0.07362	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.02682	4.2;4.21	4.16	-3.9	0.04181	.	0.977000	0.08425	N	0.947794	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49495	-0.8934	10	0.10111	T	0.7	-22.3403	2.4352	0.04481	0.4913:0.2417:0.1456:0.1214	.	61	Q9GZR7	DDX24_HUMAN	S	61;61;18;18	ENSP00000328690:P61S;ENSP00000452145:P18S	ENSP00000328690:P61S	P	-	1	0	DDX24	93615661	0.024000	0.19004	0.124000	0.21820	0.739000	0.42172	0.039000	0.13884	-0.796000	0.04456	-0.378000	0.06908	CCT		0.468	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		5	148	0	0	0	1	0	5	148					A	94545908	G	A	94545908	3	1	447	1	0	0	0	0	1	0	0	0	4351	1232	43	2	2430	2	DDX24	14	94545908	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	71150445	94545908	12803632	25	37605											
SERPINA4	5267	broad.mit.edu	37	chr14	95035850	95035850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcctgcgattcaaccGgcccttccttgtggtgatct	8	15	2	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:95035850G>A	ENST00000557004.1	+	5	1623	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	401					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CGATTCAACCGGCCCTTCCTT	0.587																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(1201-1203)cGg>cAg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							107	84	92					14																	95035850		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95035850G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1202G>A	14.37:g.95035850G>A	ENSP00000450838:p.Arg401Gln					SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q	p.R401Q			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1623	+			401					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.1202G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799006	0.50208	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85773	-2.03;-2.03;-2.03	5.56	1.71	0.24356	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.52532	D	0.000080	D	0.87748	0.6255	L	0.60845	1.875	0.80722	D	1	D;D	0.76494	0.988;0.999	P;P	0.62560	0.746;0.904	D	0.85860	0.1409	10	0.59425	D	0.04	.	9.679	0.40059	0.2848:0.0:0.7152:0.0	.	401;401	B2R815;P29622	.;KAIN_HUMAN	Q	401	ENSP00000450838:R401Q;ENSP00000451172:R401Q;ENSP00000298841:R401Q	ENSP00000298841:R401Q	R	+	2	0	SERPINA4	94105603	0.660000	0.27420	0.504000	0.27639	0.019000	0.09904	1.790000	0.38734	0.324000	0.23333	-0.136000	0.14681	CGG		0.587	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		8	69	0	0	0	1	0	8	69					A	95035850	G	A	95035850	3	1	447	1	0	0	0	0	1	0	0	0	14091	1116	39	1	1216	1	SERPINA4	14	95035850	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	489942	95035850	12313690	26	37606											
KIF26A	26153	broad.mit.edu	37	chr14	104638942	104638942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggggaccgtggccgacGtgctccagtcggtggtcagt	17	12	1	0	rs546440609		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:104638942G>A	ENST00000423312.2	+	7	1357	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	KIF26A_ENST00000315264.7_Missense_Mutation_p.V314M	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	453	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTGGCCGACGTGCTCCAGTC	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17611	0.0		0.0	False		,,,				2504	0.0					ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(940-942)Gtg>Atg		kinesin family member 26A							72	75	74					14																	104638942		2094	4207	6301	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104638942G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1357G>A	14.37:g.104638942G>A	ENSP00000388241:p.Val453Met					KIF26A_ENST00000423312.2_Missense_Mutation_p.V453M	p.V314M			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	6	1318	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	453					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.940G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445562	0.84101	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76060	-0.99;-0.99	4.25	4.25	0.50352	Kinesin, motor domain (4);	.	.	.	.	D	0.83372	0.5240	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85911	0.1440	9	0.87932	D	0	.	16.6587	0.85235	0.0:0.0:1.0:0.0	.	453	Q9ULI4	KI26A_HUMAN	M	453;314	ENSP00000388241:V453M;ENSP00000325452:V314M	ENSP00000325452:V314M	V	+	1	0	KIF26A	103708695	1.000000	0.71417	0.946000	0.38457	0.599000	0.36880	6.561000	0.73955	1.912000	0.55364	0.462000	0.41574	GTG		0.642	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			4	63	0	0	0	1	0	4	63					A	104638942	G	A	104638942	3	1	447	1	0	0	0	0	1	0	0	0	8294	1145	40	1	1383	1	KIF26A	14	104638942	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	9603092	104638942	2710598	27	37607											
CEP152	22995	broad.mit.edu	37	chr15	49031241	49031241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcttgcaactaccatcCccaaactggaattccaaatg	7	12	0	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr15:49031241C>T	ENST00000380950.2	-	27	4525	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	CEP152_ENST00000399334.3_Silent_p.G1390G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1446					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)		AACTACCATCCCCAAACTGGA	0.448																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(4336-4338)ggG>ggA		centrosomal protein 152kDa							145	136	139					15																	49031241		1900	4133	6033	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49031241C>T	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.4338G>A	15.37:g.49031241C>T						CEP152_ENST00000399334.3_Silent_p.G1390G	p.G1446G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	27	4525	-		all_lung(180;0.0428)	1390					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.4338G>A	CCDS58361.1																																																																																				0.448	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		11	115	0	0	0	1	0	11	115					T	49031241	C	T	49031241	2	4	447	1	0	0	0	0	0	0	0	1	3248	610	22	2		2	CEP152	15	49031241	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		49031241	53500151	28	37608											
USP6	9098	broad.mit.edu	37	chr17	5039171	5039171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttatctgcctgaggaggaCgcattctgggcactggtgca	13	10	2	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5039171C>T	ENST00000574788.1	+	17	2842	c.612C>T	c.(610-612)gaC>gaT	p.D204D	USP6_ENST00000332776.4_Silent_p.D204D|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.D204D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	204	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						CTGAGGAGGACGCATTCTGGG	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				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						c.(610-612)gaC>gaT		ubiquitin specific peptidase 6 (Tre-2 oncogene)							112	95	101					17																	5039171		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5039171C>T	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.612C>T	17.37:g.5039171C>T						USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.D204D|USP6_ENST00000332776.4_Silent_p.D204D	p.D204D			P35125	UBP6_HUMAN			17	2842	+			204			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.612C>T	CCDS11069.2																																																																																				0.617	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	66	0	0	0	1	0	6	66					T	5039171	C	T	5039171	2	4	447	1	0	0	0	0	0	0	0	1	17083	535	19	1		1	USP6	17	5039171	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		5039171	76156039	29	37609											
RABEP1	9135	broad.mit.edu	37	chr17	5250214	5250214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaactgcggaaagaattgCatgaaggtaaatatactgta	10	4	0	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5250214C>A	ENST00000546142.2	+	6	965	c.778C>A	c.(778-780)Cat>Aat	p.H260N	RABEP1_ENST00000262477.6_Missense_Mutation_p.H260N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	260					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						GAAAGAATTGCATGAAGGTAA	0.308																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(778-780)Cat>Aat		rabaptin, RAB GTPase binding effector protein 1							63	60	61					17																	5250214		1833	4078	5911	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5250214C>A	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.778C>A	17.37:g.5250214C>A	ENSP00000437701:p.His260Asn					RABEP1_ENST00000546142.2_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N|RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N	p.H260N	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			6	1002	+			260					B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.778C>A	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758911	0.89843	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.91;0.9	5.19	5.19	0.71726	.	0.095044	0.64402	D	0.000001	T	0.52191	0.1719	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.67145	0.991;0.985;0.993;0.993;0.996	P;P;D;P;D	0.75484	0.851;0.714;0.968;0.823;0.986	T	0.38887	-0.9640	10	0.22109	T	0.4	-8.9837	18.1538	0.89686	0.0:1.0:0.0:0.0	.	217;217;260;260;260	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	N	260;260;260;260;260;217	ENSP00000262477:H260N;ENSP00000386150:H260N;ENSP00000437701:H260N;ENSP00000339569:H260N;ENSP00000445408:H217N	ENSP00000262477:H260N	H	+	1	0	RABEP1	5190938	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.390000	0.79816	2.615000	0.88500	0.502000	0.49764	CAT		0.308	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		3	47	1	0	0.00909568	1	0.00943891	3	47					A	5250214	C	A	5250214	3	1	447	1	0	0	0	0	1	0	0	0	12961	710	25	4	800	4	RABEP1	17	5250214	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	211043	5250214	75944996	30	37610											
NTN1	9423	broad.mit.edu	37	chr17	9083253	9083253	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggctaccagcagagccgctCtcccatcgccccctgcataa	8	18	1	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:9083253C>T	ENST00000173229.2	+	4	1444	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F|RP11-85B7.2_ENST00000574307.2_RNA	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	446	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAGAGCCGCTCTCCCATCGCC	0.582																																						ENST00000173229.2																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1336-1338)tCt>tTt		netrin 1							60	50	53					17																	9083253		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9083253C>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"Netrins"	8029	protein-coding gene	gene with protein product	"Netrin-1"	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1337C>T	17.37:g.9083253C>T	ENSP00000173229:p.Ser446Phe					NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F	p.S446F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN			4	1444	+			446			Laminin EGF-like 3.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1337C>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108754	0.94292	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.63255	1.2;1.2;1.2;-0.03	5.77	5.77	0.91146	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87704	0.2562	10	0.72032	D	0.01	.	19.9716	0.97286	0.0:1.0:0.0:0.0	.	446	O95631	NET1_HUMAN	F	446;446;446;66	ENSP00000173229:S446F;ENSP00000443259:S446F;ENSP00000441611:S446F;ENSP00000389375:S66F	ENSP00000173229:S446F	S	+	2	0	NTN1	9023978	1.000000	0.71417	0.950000	0.38849	0.975000	0.68041	7.480000	0.81109	2.718000	0.92993	0.655000	0.94253	TCT		0.582	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			5	52	0	0	0	1	0	5	52					T	9083253	C	T	9083253	3	4	447	1	0	0	0	0	1	0	0	0	10700	913	32	2	1347	2	NTN1	17	9083253	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	3833039	9083253	72111957	31	37611											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	12	15	2	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000572681.2_Missense_Mutation_p.R1124W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	19	0	0	0	1	0	15	19					T	42791757	C	T	42791757	3	4	447	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		42791757	16337226	32	37612											
ZNF334	55713	broad.mit.edu	37	chr20	45131690	45131691	+	Frame_Shift_Del	DEL	AT	AT	-													aagaatacagtttgtgtcaaAtgtttatcttggatttcctt							TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr20:45131690_45131691delAT	ENST00000347606.4	-	5	469_470	c.287_288delAT	c.(286-288)catfs	p.H96fs	ZNF334_ENST00000457685.2_Frame_Shift_Del_p.H58fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	96					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(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTGTGTCAAATGTTTATCTTG	0.351																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(172-174)cfs		zinc finger protein 334																																				SO:0001589	frameshift_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131690_45131691delAT	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.287_288delAT	20.37:g.45131690_45131691delAT	ENSP00000255129:p.His96fs					ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs|ZNF334_ENST00000347606.4_Frame_Shift_Del_p.H96fs	p.H58fs			Q9HCZ1	ZN334_HUMAN			6	1496_1497	-		Myeloproliferative disorder(115;0.0122)	96			KRAB.		Q5T6U2|Q9NVW4	Frame_Shift_Del	DEL	ENST00000347606.4	37	c.173_174delAT	CCDS33480.1																																																																																				0.351	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			27	33						27	33	---	---	---	---	-	45131691	AT	-	45131690	7	5	447	1	0	1	0	1	0	0	0	0	17848	98	4	0	1758	0	ZNF334	20	45131690	Frame_Shift_Del	DEL	AT	TCGA-S9-A7J3-01A-21D-A34J-08		45131690	17893830	33	37613											
TPTE	7179	broad.mit.edu	37	chr21	10970009	10970009	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttaactatttattgctcacCtttctttcgcaggtgcctcc	5	12	2	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:10970009C>G	ENST00000361285.4	-	6	448	c.119G>C	c.(118-120)aGc>aCc	p.S40T	TPTE_ENST00000342420.5_Splice_Site_p.S40T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.S40T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	40					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATTGCTCACCTTTCTTTCGC	0.438																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology							280	252	262					21																	10970009		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970009C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.119+1G>C	21.37:g.10970009C>G						TPTE_ENST00000361285.4_Splice_Site_p.S40_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S40_splice	p.S40_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	486	-			40					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.119_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.619347	0.00007	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95205	-3.64;-3.59;-3.44	0.725	-1.45	0.08828	.	30.764100	0.01208	N	0.007767	D	0.89364	0.6694	L	0.34521	1.04	0.09310	N	1	B;B;B	0.29301	0.0;0.241;0.0	B;B;B	0.29785	0.002;0.107;0.001	T	0.75210	-0.3398	9	.	.	.	.	1.9673	0.03399	0.4355:0.2337:0.0:0.3307	.	40;40;40	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	40	ENSP00000298232:S40T;ENSP00000355208:S40T;ENSP00000344441:S40T	.	S	-	2	0	TPTE	9991880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.409000	0.00238	-2.478000	0.00525	-1.210000	0.01631	AGT;AGC;AGC		0.438	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	15	92	0	0	0	1	0	15	92					G	10970009	C	G	10970009	5	3	447	1	0	0	0	0	0	0	1	0	16427	695	24	4	1612	4	TPTE	21	10970009	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		10970009	37159886	34	37614											
U2AF1	7307	broad.mit.edu	37	chr21	44514659	44514661	+	In_Frame_Del	DEL	CCT	CCT	-													gcatgaagttgcagaagccgCctcgtgtgcattctctgtgg							TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:44514659_44514661delCCT	ENST00000291552.4	-	7	587_589	c.495_497delAGG	c.(493-498)cgaggc>cgc	p.G167del	U2AF1_ENST00000398137.1_In_Frame_Del_p.G94del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_In_Frame_Del_p.G167del|U2AF1_ENST00000459639.1_In_Frame_Del_p.G94del	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	167					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCAGAAGCCGCCTCGTGTGCATT	0.571			Mis		"CLL, MDS"																																	ENST00000459639.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(274-279)cgc>cg		U2 small nuclear RNA auxiliary factor 1																																				SO:0001651	inframe_deletion	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44514659_44514661delCCT	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.495_497delAGG	21.37:g.44514659_44514661delCCT	ENSP00000291552:p.Gly167del					U2AF1_ENST00000398137.1_In_Frame_Del_p.RG92del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_In_Frame_Del_p.RG165del|U2AF1_ENST00000380276.2_In_Frame_Del_p.RG165del	p.RG92del			Q01081	U2AF1_HUMAN			6	1300_1302	-			165			RRM.		Q701P4|Q71RF1	In_Frame_Del	DEL	ENST00000291552.4	37	c.276_278delAGG	CCDS13694.1																																																																																				0.571	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		8	63						8	63	---	---	---	---	-	44514661	CCT	-	44514659	7	5	447	1	0	1	0	1	0	0	0	0	16818	739	26	0	233	0	U2AF1	21	44514659	In_Frame_Del	DEL	CCT	TCGA-S9-A7J3-01A-21D-A34J-08	33544650	44514659	3615236	35	37615											
BMX	660	broad.mit.edu	37	chrX	15561245	15561245	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgaaagtatctgacTttggaatgacaaggtaagcc	11	6	2	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:15561245T>A	ENST00000357607.2	+	16	1851	c.1663T>A	c.(1663-1665)Ttt>Att	p.F555I	BMX_ENST00000342014.6_Missense_Mutation_p.F555I|BMX_ENST00000348343.6_Missense_Mutation_p.F555I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGTATCTGACTTTGGAATGAC	0.418																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1663-1665)Ttt>Att		BMX non-receptor tyrosine kinase							209	177	188					X																	15561245		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15561245T>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1663T>A	X.37:g.15561245T>A	ENSP00000350224:p.Phe555Ile					BMX_ENST00000348343.6_Missense_Mutation_p.F555I|BMX_ENST00000342014.6_Missense_Mutation_p.F555I	p.F555I			P51813	BMX_HUMAN			16	1851	+	Hepatocellular(33;0.183)		555			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1663T>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828341	0.90955	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.96365	-3.99;-3.99;-3.99	4.78	4.78	0.61160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	D	0.98776	0.9588	H	0.98005	4.125	0.49213	D	0.999768	D	0.89917	1.0	D	0.91635	0.999	D	0.99091	1.0840	10	0.87932	D	0	.	12.2593	0.54640	0.0:0.0:0.0:1.0	.	555	P51813	BMX_HUMAN	I	555	ENSP00000350224:F555I;ENSP00000308774:F555I;ENSP00000340082:F555I	ENSP00000340082:F555I	F	+	1	0	BMX	15471166	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.106000	0.71511	1.565000	0.49641	0.412000	0.27726	TTT		0.418	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		31	115	0	0	0	1	0	31	115					A	15561245	T	A	15561245	3	1	447	1	0	0	0	0	1	0	0	0	1473	1609	56	5	1721	5	BMX	23	15561245	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		15561245	139709315	36	37616											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	129	0	0	0	1	0	4	129					G	37028425	A	G	37028425	3	3	447	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08	21467180	37028425	118242135	37	37617											
EFHC2	80258	broad.mit.edu	37	chrX	44109649	44109649	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gaggaactgtttcagggtgtCgagggattcgtagggacgta	17	5	1	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:44109649C>G	ENST00000420999.1	-	5	732	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	217							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTCAGGGTGTCGAGGGATTCG	0.438																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(649-651)Gac>Cac		EF-hand domain (C-terminal) containing 2							72	67	69					X																	44109649		1931	4122	6053	SO:0001583	missense	80258						calcium ion binding	g.chrX:44109649C>G	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.649G>C	X.37:g.44109649C>G	ENSP00000404232:p.Asp217His						p.D217H	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			5	732	-			217					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.649G>C	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.23|14.23	2.472836|2.472836	0.43942|0.43942	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999;ENST00000378056|ENST00000441230	T;T|.	0.71341|.	-0.54;-0.56|.	5.8|5.8	4.87|4.87	0.63330|0.63330	.|.	0.158269|.	0.53938|.	D|.	0.000044|.	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.66560|0.66560	2.04|2.04	0.54753|0.54753	D|D	0.999981|0.999981	D|.	0.71674|.	0.998|.	D|.	0.64321|.	0.924|.	T|T	0.68838|0.68838	-0.5303|-0.5303	10|5	0.62326|.	D|.	0.03|.	-13.3733|-13.3733	12.7835|12.7835	0.57491|0.57491	0.0:0.9127:0.0:0.0873|0.0:0.9127:0.0:0.0873	.|.	217|.	Q5JST6|.	EFHC2_HUMAN|.	H|P	217;245;21|197	ENSP00000333823:D217H;ENSP00000404232:D245H|.	ENSP00000333823:D217H|.	D|R	-|-	1|2	0|0	EFHC2|EFHC2	43994593|43994593	0.797000|0.797000	0.28877|0.28877	0.189000|0.189000	0.23252|0.23252	0.007000|0.007000	0.05969|0.05969	1.495000|1.495000	0.35627|0.35627	1.070000|1.070000	0.40811|0.40811	0.600000|0.600000	0.82982|0.82982	GAC|CGA		0.438	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		6	33	0	0	0	1	0	6	33					G	44109649	C	G	44109649	3	3	447	1	0	0	0	0	1	0	0	0	4947	884	31	4	1644	4	EFHC2	23	44109649	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	7081224	44109649	111160911	38	37618											
RGAG1	57529	broad.mit.edu	37	chrX	109695424	109695424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaacaatgtccatgccaCaattgacagtcccagcctct	6	14	1	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:109695424C>A	ENST00000465301.2	+	3	1825	c.1579C>A	c.(1579-1581)Caa>Aaa	p.Q527K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	527										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						GTCCATGCCACAATTGACAGT	0.522																																						ENST00000465301.2																			0				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						c.(1579-1581)Caa>Aaa		retrotransposon gag domain containing 1							184	168	173					X																	109695424		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695424C>A	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.1579C>A	X.37:g.109695424C>A	ENSP00000419786:p.Gln527Lys					RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1825	+			527					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1579C>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174564	0.38413	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.49432	0.78;0.78	4.21	4.21	0.49690	.	0.000000	0.34338	N	0.004043	T	0.63343	0.2503	M	0.64404	1.975	0.20074	N	0.999938	D	0.67145	0.996	D	0.72982	0.979	T	0.54964	-0.8214	9	.	.	.	-9.7518	13.4063	0.60915	0.0:1.0:0.0:0.0	.	527	Q8NET4	RGAG1_HUMAN	K	527	ENSP00000419786:Q527K;ENSP00000441452:Q527K	.	Q	+	1	0	RGAG1	109582080	0.036000	0.19791	0.047000	0.18901	0.311000	0.27955	2.205000	0.42770	2.329000	0.79093	0.499000	0.49734	CAA		0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		5	229	1	0	8.12818e-05	1	8.59712e-05	5	229					A	109695424	C	A	109695424	3	1	447	1	0	0	0	0	1	0	0	0	13274	479	17	4	1581	4	RGAG1	23	109695424	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	65585775	109695424	45575136	39	37619											
ALG13	79868	broad.mit.edu	37	chrX	110988026	110988026	+	Frame_Shift_Del	DEL	T	T	-													cctcctcctcctcctcctccTcctcctcctgctcttgatgt							TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:110988026delT	ENST00000394780.3	+	24	2838	c.2826delT	c.(2824-2826)cctfs	p.P945fs	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	945	Pro-rich.				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						ctcctcctcctcctcctcctg	0.572																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2824-2826)ccfs		ALG13, UDP-N-acetylglucosaminyltransferase subunit							32	24	26					X																	110988026		1568	3573	5141	SO:0001589	frameshift_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110988026delT	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.2826delT	X.37:g.110988026delT	ENSP00000378260:p.Pro945fs					ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	p.P945fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			24	2838	+			945			Pro-rich.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	c.2826delT	CCDS55477.1																																																																																				0.572	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		2	4						2	4	---	---	---	---	-	110988026	T	-	110988026	7	5	447	1	0	1	0	1	0	0	0	0	515	1538	54	0	3062	0	ALG13	23	110988026	Frame_Shift_Del	DEL	T	TCGA-S9-A7J3-01A-21D-A34J-08	1292602	110988026	44282534	40	37620											
ELF4	2000	broad.mit.edu	37	chrX	129203477	129203477	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaccctggagctggttcGccgggtggtactggcagagg	18	9	0	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:129203477G>A	ENST00000308167.5	-	8	1364	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCTGGTTCGCCGGGTGGTA	0.612			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(985-987)Cga>Tga		E74-like factor 4 (ets domain transcription factor)							68	73	71					X																	129203477		2203	4300	6503	SO:0001587	stop_gained	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129203477G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.985C>T	X.37:g.129203477G>A	ENSP00000311280:p.Arg329*					ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	p.R329*	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			8	1364	-			329						Nonsense_Mutation	SNP	ENST00000308167.5	37	c.985C>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418961	0.96092	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	.	.	.	5.14	-6.13	0.02118	.	0.445116	0.18343	N	0.144127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5434	0.27753	0.0709:0.0873:0.1658:0.676	.	.	.	.	X	329	.	ENSP00000311280:R329X	R	-	1	2	ELF4	129031158	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-0.554000	0.06006	-0.956000	0.03631	0.590000	0.80494	CGA		0.612	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		7	124	0	0	0	1	0	7	124					A	129203477	G	A	129203477	4	1	447	1	0	0	0	0	0	1	0	0	5056	1095	38	1	1014	1	ELF4	23	129203477	Nonsense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	18215451	129203477	26067083	41	37621											
VPS13D	55187	broad.mit.edu	37	chr1	12557680	12557680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagacaacatacaggaCgaattgtaagttagagcatg	9	8	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:12557680C>T	ENST00000358136.3	+	68	12919	c.12789C>T	c.(12787-12789)gaC>gaT	p.D4263D	VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000543710.1_Silent_p.D67D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000356315.4_Silent_p.D4238D|VPS13D_ENST00000496628.1_3'UTR	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)		ACATACAGGACGAATTGTAAG	0.517																																						ENST00000358136.3																			0				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						c.(12787-12789)gaC>gaT		vacuolar protein sorting 13 homolog D (S. cerevisiae)							79	79	79					1																	12557680		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12557680C>T	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.12789C>T	1.37:g.12557680C>T						VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Silent_p.D67D|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.D4238D	p.D4263D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		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)	68	12919	+	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)	4262						Silent	SNP	ENST00000358136.3	37	c.12789C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	5.837	0.338722	0.11069	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.03	-11.4	0.00090	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73209	-0.4055	4	.	.	.	.	16.1727	0.81828	0.0:0.5249:0.0:0.4751	.	.	.	.	M	3085	.	.	T	+	2	0	VPS13D	12480267	0.000000	0.05858	0.351000	0.25721	0.632000	0.37999	-3.046000	0.00630	-2.288000	0.00668	-0.794000	0.03295	ACG		0.517	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		19	31	0	0	0	1	0	19	31					T	12557680	C	T	12557680	2	4	448	1	0	0	0	0	0	0	0	1	17189	535	19	1		1	VPS13D	1	12557680	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		12557680	236692941	1	37622											
TXNDC12	51060	broad.mit.edu	37	chr1	52507235	52507235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttctttcttcccatcTtccagtgtcctccaatgaat	5	14	3	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:52507235T>C	ENST00000371626.4	-	2	1206	c.132A>G	c.(130-132)gaA>gaG	p.E44E	TXNDC12_ENST00000610127.1_Silent_p.E44E|RP11-91A18.4_ENST00000425802.1_RNA	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	44					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	TCTTCCCATCTTCCAGTGTCC	0.398																																						ENST00000371626.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(130-132)gaA>gaG		thioredoxin domain containing 12 (endoplasmic reticulum)							132	116	121					1																	52507235		2203	4300	6503	SO:0001819	synonymous_variant	51060				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr1:52507235T>C	AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"Protein disulfide isomerases"	24626	protein-coding gene	gene with protein product	"endoplasmic reticulum thioredoxin superfamily member, 18 kDa", "anterior gradient homolog 1 (Xenopus laevis)", "protein disulfide isomerase family A, member 16"	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.132A>G	1.37:g.52507235T>C						TXNDC12_ENST00000472624.1_5'UTR|RP11-91A18.4_ENST00000425802.1_RNA	p.E44E	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN			2	1206	-			384					B3KQS0|Q5T1T4|Q96H50	Silent	SNP	ENST00000371626.4	37	c.132A>G	CCDS561.1																																																																																				0.398	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913		30	34	0	0	0	1	0	30	34					C	52507235	T	C	52507235	2	2	448	1	0	0	0	0	0	0	0	1	16790	1606	56	3		3	TXNDC12	1	52507235	Silent	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	39949555	52507235	196743386	2	37623											
WDR78	79819	broad.mit.edu	37	chr1	67292589	67292589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggagaccaggcaacgtcGtaaacaacagaagtagctgg	12	8	0	2	rs369539029		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:67292589G>A	ENST00000371026.3	-	15	2308	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y	WDR78_ENST00000431318.1_Silent_p.Y464Y|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751					hematopoietic progenitor cell differentiation (GO:0002244)			p.Y751Y(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGCAACGTCGTAAACAACAG	0.393																																						ENST00000371026.3																			1	Substitution - coding silent(1)	p.Y751Y(1)	kidney(1)	NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(2251-2253)taC>taT		WD repeat domain 78		G		1,4405	2.1+/-5.4	0,1,2202	116	117	117		2253	0.2	1	1		117	0,8600		0,0,4300	no	coding-synonymous	WDR78	NM_024763.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		751/849	67292589	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67292589G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2253C>T	1.37:g.67292589G>A						WDR78_ENST00000431318.1_Silent_p.Y464Y	p.Y751Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			15	2308	-			751					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.2253C>T	CCDS635.1																																																																																				0.393	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		58	48	0	0	0	1	0	58	48					A	67292589	G	A	67292589	2	1	448	1	0	0	0	0	0	0	0	1	17325	1140	40	1		1	WDR78	1	67292589	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	14785354	67292589	181958032	3	37624											
CR1L	1379	broad.mit.edu	37	chr1	207867851	207867851	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgagccctccatatActgcaccagcaaagatgatc	10	11	0	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:207867851A>T	ENST00000508064.2	+	5	677	c.617A>T	c.(616-618)tAc>tTc	p.Y206F	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTCCATATACTGCACCAGC	0.478																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(616-618)tAc>tTc		complement component (3b/4b) receptor 1-like							222	207	211					1																	207867851		1931	4141	6072	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867851A>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.617A>T	1.37:g.207867851A>T	ENSP00000421736:p.Tyr206Phe					CR1L_ENST00000530905.1_Intron	p.Y206F	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	677	+			206			Sushi 3.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.617A>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201459	0.22121	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64085	-0.08	2.38	1.11	0.20524	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.58264	0.2110	L	0.50919	1.6	0.09310	N	1	B	0.33171	0.4	P	0.44811	0.461	T	0.51004	-0.8760	9	0.25106	T	0.35	.	4.4216	0.11482	0.7054:0.0:0.0:0.2946	.	206	Q2VPA4	CR1L_HUMAN	F	206	ENSP00000421736:Y206F	ENSP00000434864:Y150F	Y	+	2	0	CR1L	205934474	0.000000	0.05858	0.003000	0.11579	0.075000	0.17131	0.372000	0.20467	0.128000	0.18479	0.248000	0.18094	TAC		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		84	100	0	0	0	1	0	84	100					T	207867851	A	T	207867851	3	4	448	1	0	0	0	0	1	0	0	0	3841	391	14	5	635	5	CR1L	1	207867851	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	140575262	207867851	41382770	4	37625											
C1orf65	164127	broad.mit.edu	37	chr1	223567220	223567220	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccccagcggccgcagcccTgcccgcattaccctctggcc	9	22	1	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:223567220T>A	ENST00000366875.3	+	1	506	c.403T>A	c.(403-405)Tgc>Agc	p.C135S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		135	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCGCAGCCCTGCCCGCATTA	0.701																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(403-405)Tgc>Agc		chromosome 1 open reading frame 65							7	10	9					1																	223567220		2134	4250	6384	SO:0001583	missense	164127							g.chr1:223567220T>A																												ENST00000366875.3:c.403T>A	1.37:g.223567220T>A	ENSP00000355840:p.Cys135Ser						p.C135S	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	506	+			135			Pro-rich.		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.403T>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	T	6.063	0.379922	0.11466	.	.	ENSG00000178395	ENST00000366875	T	0.14391	2.51	4.2	0.227	0.15359	.	.	.	.	.	T	0.04137	0.0115	N	0.04880	-0.145	0.09310	N	1	B	0.21606	0.058	B	0.14023	0.01	T	0.41698	-0.9494	9	0.06494	T	0.89	.	2.1932	0.03905	0.1605:0.0972:0.1542:0.588	.	135	Q8N715	CA065_HUMAN	S	135	ENSP00000355840:C135S	ENSP00000355840:C135S	C	+	1	0	C1orf65	221633843	0.000000	0.05858	0.119000	0.21687	0.335000	0.28730	-1.858000	0.01659	0.082000	0.17018	0.528000	0.53228	TGC		0.701	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			6	7	0	0	0	1	0	6	7					A	223567220	T	A	223567220	3	1	448	1	0	0	0	0	1	0	0	0	2055	1580	55	5	405	5	C1orf65	1	223567220	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	15699369	223567220	25683401	5	37626											
DNMT3A	1788	broad.mit.edu	37	chr2	25463521	25463521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacctaccgtagaggccctTgcgagcagggttgacgatgg	15	10	0	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:25463521T>C	ENST00000264709.3	-	18	2498	c.2161A>G	c.(2161-2163)Aag>Gag	p.K721E	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	721	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)					TAGAGGCCCTTGCGAGCAGGG	0.577			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(2161-2163)Aag>Gag		DNA (cytosine-5-)-methyltransferase 3 alpha							143	119	127					2																	25463521		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463521T>C		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.2161A>G	2.37:g.25463521T>C	ENSP00000264709:p.Lys721Glu					DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E|DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E	p.K721E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			18	2498	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		721					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2161A>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889473	0.72524	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	L	0.47190	1.495	0.80722	D	1	P;D	0.60575	0.462;0.988	B;D	0.66979	0.344;0.948	D	0.90283	0.4316	10	0.87932	D	0	-13.0344	14.4603	0.67445	0.0:0.0:0.0:1.0	.	721;532	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	E	532;721;721;498	ENSP00000370122:K532E;ENSP00000324375:K721E;ENSP00000264709:K721E;ENSP00000384237:K498E	ENSP00000264709:K721E	K	-	1	0	DNMT3A	25317025	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.976000	0.88070	2.111000	0.64477	0.454000	0.30748	AAG		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		28	31	0	0	0	1	0	28	31					C	25463521	T	C	25463521	3	2	448	1	0	0	0	0	1	0	0	0	4676	1821	63	3	601	3	DNMT3A	2	25463521	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08		25463521	217735852	6	37627											
CCDC104	112942	broad.mit.edu	37	chr2	55750876	55750876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgaaaagctgttagaagGttacctcaaagaaattggaa	11	4	1	3	rs546758435	byFrequency	TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:55750876G>T	ENST00000349456.4	+	3	348	c.200G>T	c.(199-201)gGt>gTt	p.G67V	CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V|CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V			Q96G28	CFA36_HUMAN		67										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTTAGAAGGTTACCTCAAA	0.294													G|||	3	0.000599042	0.0	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0031					ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(199-201)gGt>gTt		coiled-coil domain containing 104							80	76	78					2																	55750876		2203	4299	6502	SO:0001583	missense	112942							g.chr2:55750876G>T																												ENST00000349456.4:c.200G>T	2.37:g.55750876G>T	ENSP00000295117:p.Gly67Val					CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V	p.G67V			Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		3	348	+			67					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.200G>T	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301550	0.23736	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.7	2.93	0.34026	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.524747	0.25052	N	0.033514	T	0.30070	0.0753	L	0.38175	1.15	0.34119	D	0.663915	B;B	0.32573	0.036;0.376	B;B	0.32980	0.119;0.156	T	0.35226	-0.9797	10	0.49607	T	0.09	.	6.4265	0.21772	0.2636:0.1211:0.6153:0.0	.	67;92	Q96G28;Q96G28-2	CC104_HUMAN;.	V	92;67;67;67;67	ENSP00000342699:G92V;ENSP00000385400:G67V;ENSP00000295117:G67V;ENSP00000385376:G67V;ENSP00000385972:G67V	ENSP00000342699:G92V	G	+	2	0	CCDC104	55604380	1.000000	0.71417	0.929000	0.37066	0.666000	0.39218	3.315000	0.51951	0.355000	0.24131	-0.793000	0.03317	GGT		0.294	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			5	48	1	0	0.000602214	1	0.000622628	5	48					T	55750876	G	T	55750876	3	4	448	1	0	0	0	0	1	0	0	0	2739	1261	44	4	210	4	CCDC104	2	55750876	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	30287355	55750876	187448497	7	37628											
CKAP2L	150468	broad.mit.edu	37	chr2	113513993	113513993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtaacagggtatgaccGtatcttagtttcatttggtc	9	7	3	1	rs200765044		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:113513993G>A	ENST00000302450.6	-	4	1033	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	CKAP2L_ENST00000541405.1_Missense_Mutation_p.R154W|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	319						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTATGACCGTATCTTAGTT	0.378																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(460-462)Cgg>Tgg		cytoskeleton associated protein 2-like		G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	146	141	143		955	1.9	0	2		143	0,8600		0,0,4300	yes	missense	CKAP2L	NM_152515.3	101	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging	319/746	113513993	5,13001	2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113513993G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.955C>T	2.37:g.113513993G>A	ENSP00000305204:p.Arg319Trp					CKAP2L_ENST00000302450.6_Missense_Mutation_p.R319W	p.R154W			Q8IYA6	CKP2L_HUMAN			4	983	-			319					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.460C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857980	0.32791	0.001135	0.0	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.13901	2.55;3.2	4.69	1.92	0.25849	.	1.267280	0.05516	N	0.561267	T	0.08358	0.0208	N	0.22421	0.69	0.09310	N	1	D	0.54772	0.968	B	0.36186	0.219	T	0.28839	-1.0031	10	0.51188	T	0.08	0.1851	5.3791	0.16181	0.1799:0.1639:0.6562:0.0	.	319	Q8IYA6	CKP2L_HUMAN	W	154;319	ENSP00000438763:R154W;ENSP00000305204:R319W	ENSP00000305204:R319W	R	-	1	2	CKAP2L	113230464	0.001000	0.12720	0.000000	0.03702	0.100000	0.18952	0.696000	0.25541	0.451000	0.26802	-0.203000	0.12734	CGG		0.378	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		4	134	0	0	0	1	0	4	134					A	113513993	G	A	113513993	3	1	448	1	0	0	0	0	1	0	0	0	3443	1144	40	1	1306	1	CKAP2L	2	113513993	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	57763117	113513993	129685380	8	37629											
SAP130	79595	broad.mit.edu	37	chr2	128747140	128747140	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcaaaaatttaaaattacctGaagtctttccttcaggctga	6	8	2	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:128747140G>C	ENST00000259235.3	-	13	1985	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.S619*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	619					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)		AAAATTACCTGAAGTCTTTCC	0.433																																						ENST00000357702.5																			0				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						c.(1855-1857)tCa>tGa		Sin3A-associated protein, 130kDa							62	63	62					2																	128747140		2203	4300	6503	SO:0001587	stop_gained	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747140G>C	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.1856C>G	2.37:g.128747140G>C	ENSP00000259235:p.Ser619*					SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*|SAP130_ENST00000259235.3_Nonsense_Mutation_p.S619*	p.S619*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1987	-	Colorectal(110;0.1)		619					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	ENST00000259235.3	37	c.1856C>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	40	8.014299	0.98610	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.92	5.92	0.95590	.	0.120947	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.5011	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	619;619;593	.	ENSP00000259234:S593X	S	-	2	0	SAP130	128463610	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.603000	0.74145	2.804000	0.96469	0.655000	0.94253	TCA		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		31	24	0	0	0	1	0	31	24					C	128747140	G	C	128747140	4	2	448	1	0	0	0	0	0	1	0	0	13831	1294	45	4	1431	4	SAP130	2	128747140	Nonsense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	15233147	128747140	114452233	9	37630											
LRP1B	53353	broad.mit.edu	37	chr2	141130603	141130603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcttttctcatcttccCcatatttgcagtcttcatgg	5	13	4	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:141130603C>T	ENST00000389484.3	-	69	11713	c.10742G>A	c.(10741-10743)gGg>gAg	p.G3581E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		CTCATCTTCCCCATATTTGCA	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(10741-10743)gGg>gAg		low density lipoprotein receptor-related protein 1B							215	209	211					2																	141130603		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130603C>T	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.10742G>A	2.37:g.141130603C>T	ENSP00000374135:p.Gly3581Glu	TSP Lung(27;0.18)					p.G3581E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		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)	69	11713	-		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)	3581			LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10742G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943172	0.92526	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.53857	0.6	5.67	5.67	0.87782	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	U	0.000001	T	0.74891	0.3776	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74870	-0.3517	10	0.49607	T	0.09	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	3581	Q9NZR2	LRP1B_HUMAN	E	3581;3519	ENSP00000374135:G3581E	ENSP00000374135:G3581E	G	-	2	0	LRP1B	140847073	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.484000	0.81180	2.679000	0.91253	0.655000	0.94253	GGG		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	150	0	0	0	1	0	6	150					T	141130603	C	T	141130603	3	4	448	1	0	0	0	0	1	0	0	0	8955	623	22	2	3149	2	LRP1B	2	141130603	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	12383463	141130603	102068770	10	37631											
TTN	7273	broad.mit.edu	37	chr2	179598483	179598483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcattttgatttttccGtcttctctgatgacctcttg	6	10	4	3	rs534365478		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:179598483G>A	ENST00000591111.1	-	51	14906	c.14682C>T	c.(14680-14682)gaC>gaT	p.D4894D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.D5211D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12286	Ig-like 29.				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)			TGATTTTTCCGTCTTCTCTGA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		18451	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			0				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						c.(15631-15633)gaC>gaT		titin							199	188	191					2																	179598483		1908	4141	6049	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598483G>A	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.14682C>T	2.37:g.179598483G>A						TTN_ENST00000591111.1_Silent_p.D4894D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.D5211D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15857	-			4894			Ig-like 32.		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	ENST00000591111.1	37	c.15633C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	124	0	0	0	1	0	6	124					A	179598483	G	A	179598483	2	1	448	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179598483	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	38467880	179598483	63600890	11	37632											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	44	0	0	0	1	0	33	44					T	209113112	C	T	209113112	3	4	448	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	29514629	209113112	34086261	12	37633											
FGD5	152273	broad.mit.edu	37	chr3	14922109	14922109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccagagcccttgtcatcGcacaggaactgctatcttca	8	13	3	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:14922109G>A	ENST00000285046.5	+	3	2799	c.2689G>A	c.(2689-2691)Gca>Aca	p.A897T	FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	897	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						CCTTGTCATCGCACAGGAACT	0.542																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2689-2691)Gca>Aca		FYVE, RhoGEF and PH domain containing 5							76	77	77					3																	14922109		2072	4200	6272	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14922109G>A	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.2689G>A	3.37:g.14922109G>A	ENSP00000285046:p.Ala897Thr					FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	p.A897T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			3	2799	+			897			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2689G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623500	0.87460	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.63913	-0.07;-0.07	4.99	4.99	0.66335	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000060	T	0.77205	0.4096	M	0.66297	2.02	0.47341	D	0.999393	D;D	0.89917	1.0;1.0	D;D	0.72625	0.97;0.978	T	0.80132	-0.1510	10	0.87932	D	0	-17.3609	16.0595	0.80830	0.0:0.0:1.0:0.0	.	656;897	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	897;656	ENSP00000285046:A897T;ENSP00000445949:A656T	ENSP00000285046:A897T	A	+	1	0	FGD5	14897113	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.978000	0.70501	2.311000	0.77944	0.313000	0.20887	GCA		0.542	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		5	30	0	0	0	1	0	5	30					A	14922109	G	A	14922109	3	1	448	1	0	0	0	0	1	0	0	0	5836	1087	38	1	2699	1	FGD5	3	14922109	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		14922109	183100321	13	37634											
USP19	10869	broad.mit.edu	37	chr3	49153204	49153204	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttacatgctccatgggtgTgcgggttgccacactgtcta	13	10	1	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:49153204T>A	ENST00000398888.2	-	10	1654	c.1336A>T	c.(1336-1338)Aca>Tca	p.T446S	USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_Missense_Mutation_p.T549S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S|USP19_ENST00000453664.1_Missense_Mutation_p.T537S	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	446					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)		TCCATGGGTGTGCGGGTTGCC	0.602																																						ENST00000453664.1																			0				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						c.(1609-1611)Aca>Tca		ubiquitin specific peptidase 19							91	96	94					3																	49153204		2110	4220	6330	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153204T>A	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.1336A>T	3.37:g.49153204T>A	ENSP00000381863:p.Thr446Ser					USP19_ENST00000398888.2_Missense_Mutation_p.T446S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000417901.1_Missense_Mutation_p.T549S	p.T537S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1927	-			446					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1609A>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	T	7.985	0.751989	0.15778	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.35973	2.15;2.11;2.21;2.22;2.13;2.27;2.22;1.28	6.17	6.17	0.99709	Domain of unknown function DUF1872 (1);	0.820352	0.11557	N	0.552173	T	0.35856	0.0946	L	0.36672	1.1	0.37145	D	0.901874	B;B;B;B;B;B;B	0.30889	0.22;0.049;0.1;0.299;0.027;0.184;0.002	B;B;B;B;B;B;B	0.32583	0.097;0.044;0.097;0.091;0.055;0.148;0.017	T	0.28490	-1.0042	10	0.44086	T	0.13	-12.8321	16.4837	0.84171	0.0:0.0:0.0:1.0	.	612;547;537;446;486;532;254	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	S	254;486;549;537;486;446;547;534	ENSP00000381870:T254S;ENSP00000381872:T486S;ENSP00000395260:T549S;ENSP00000400090:T537S;ENSP00000381867:T486S;ENSP00000381863:T446S;ENSP00000401197:T547S;ENSP00000303503:T534S	ENSP00000303503:T534S	T	-	1	0	USP19	49128208	1.000000	0.71417	0.404000	0.26397	0.320000	0.28249	3.347000	0.52200	2.371000	0.80710	0.533000	0.62120	ACA		0.602	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		17	43	0	0	0	1	0	17	43					A	49153204	T	A	49153204	3	1	448	1	0	0	0	0	1	0	0	0	17047	1696	59	5	2688	5	USP19	3	49153204	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	34231095	49153204	148869226	14	37635											
NEK11	79858	broad.mit.edu	37	chr3	130947384	130947384	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttcagagatcccagaagAcccacttgtggctgaagagt	10	9	1	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:130947384A>G	ENST00000510769.1	+	11	1350	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G	NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000383366.4_Missense_Mutation_p.D471G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATCCCAGAAGACCCACTTGTG	0.368																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1411-1413)gAc>gGc		NIMA-related kinase 11							140	139	139					3																	130947384		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130947384A>G	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1097A>G	3.37:g.130947384A>G	ENSP00000421549:p.Asp366Gly					NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G|NEK11_ENST00000510769.1_Missense_Mutation_p.D366G	p.D471G	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			15	1705	+			471						Missense_Mutation	SNP	ENST00000510769.1	37	c.1412A>G		.	.	.	.	.	.	.	.	.	.	A	19.91	3.915125	0.73098	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000510688;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T;T	0.80393	-1.09;-0.96;-1.37;-0.96;-1.16;-0.96	5.67	5.67	0.87782	.	0.000000	0.44285	D	0.000467	D	0.86518	0.5952	L	0.52573	1.65	0.45150	D	0.998163	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	D	0.87571	0.2478	10	0.72032	D	0.01	.	13.4265	0.61028	1.0:0.0:0.0:0.0	.	366;287;471;471	E9PHI8;B4DDN2;Q8NG66-4;Q8NG66	.;.;.;NEK11_HUMAN	G	366;471;471;471;287;471	ENSP00000421549:D366G;ENSP00000397180:D471G;ENSP00000423458:D471G;ENSP00000372857:D471G;ENSP00000411888:D287G;ENSP00000421851:D471G	ENSP00000372857:D471G	D	+	2	0	NEK11	132430074	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.115000	0.64655	2.144000	0.66660	0.533000	0.62120	GAC		0.368	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		11	255	0	0	0	1	0	11	255					G	130947384	A	G	130947384	3	3	448	1	0	0	0	0	1	0	0	0	10323	275	10	3	1480	3	NEK11	3	130947384	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	81794180	130947384	67075046	15	37636											
ZBTB38	253461	broad.mit.edu	37	chr3	141161851	141161851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgcctggagaggacggaCgtctgccacgaggcagagcc	15	12	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:141161851C>T	ENST00000514251.1	+	4	900	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZBTB38_ENST00000441582.2_Silent_p.D207D|ZBTB38_ENST00000321464.5_Silent_p.D208D					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						AGAGGACGGACGTCTGCCACG	0.512																																						ENST00000514251.1																			0				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						c.(619-621)gaC>gaT		zinc finger and BTB domain containing 38							67	65	66					3																	141161851		2064	4198	6262	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161851C>T	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.621C>T	3.37:g.141161851C>T						ZBTB38_ENST00000321464.5_Silent_p.D208D|ZBTB38_ENST00000441582.2_Silent_p.D207D	p.D207D			Q8NAP3	ZBT38_HUMAN			4	900	+			207						Silent	SNP	ENST00000514251.1	37	c.621C>T	CCDS43157.1																																																																																				0.512	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			36	44	0	0	0	1	0	36	44					T	141161851	C	T	141161851	2	4	448	1	0	0	0	0	0	0	0	1	17536	535	19	1		1	ZBTB38	3	141161851	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	10214467	141161851	56860579	16	37637											
TMEM33	55161	broad.mit.edu	37	chr4	41941241	41941241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagcaagcttttaccaaCgtgctttgctggcaaatgct	9	10	0	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:41941241C>T	ENST00000504986.1	+	3	534	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTTTACCAACGTGCTTTGCT	0.458																																						ENST00000504986.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(169-171)Cgt>Tgt		transmembrane protein 33							128	112	117					4																	41941241		2203	4300	6503	SO:0001583	missense	55161					integral to membrane|melanosome	protein binding	g.chr4:41941241C>T	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.169C>T	4.37:g.41941241C>T	ENSP00000422473:p.Arg57Cys					TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN			3	534	+			57					B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	c.169C>T	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003475	0.74932	.	.	ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77330	-0.2628	9	0.34782	T	0.22	-10.7529	19.2023	0.93715	0.0:1.0:0.0:0.0	.	57	P57088	TMM33_HUMAN	C	57	.	ENSP00000441455:R57C	R	+	1	0	TMEM33	41635998	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.589000	0.53972	2.540000	0.85666	0.591000	0.81541	CGT		0.458	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		32	46	0	0	0	1	0	32	46					T	41941241	C	T	41941241	3	4	448	1	0	0	0	0	1	0	0	0	16153	536	19	1	179	1	TMEM33	4	41941241	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		41941241	149213035	17	37638											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69094596	69094596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaagtatcactggaAatgaacctaaaagcaataag	7	7	2	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69094596A>G	ENST00000332644.5	-	9	1114	c.953T>C	c.(952-954)tTt>tCt	p.F318S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	318	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TATCACTGGAAATGAACCTAA	0.358																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(952-954)tTt>tCt		transmembrane protease, serine 11B							86	78	81					4																	69094596		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69094596A>G	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.953T>C	4.37:g.69094596A>G	ENSP00000330475:p.Phe318Ser						p.F318S	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			9	1114	-			318			Peptidase S1.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.953T>C	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	A	1.370	-0.586347	0.03827	.	.	ENSG00000185873	ENST00000332644	D	0.88277	-2.36	4.41	-5.87	0.02297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.061820	0.02425	N	0.082988	T	0.67795	0.2931	N	0.01824	-0.7	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.63116	-0.6709	10	0.17369	T	0.5	.	3.8804	0.09076	0.3288:0.0:0.304:0.3672	.	318	Q86T26	TM11B_HUMAN	S	318	ENSP00000330475:F318S	ENSP00000330475:F318S	F	-	2	0	TMPRSS11B	68777191	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.309000	0.08145	-0.722000	0.04922	-1.093000	0.02169	TTT		0.358	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		3	62	0	0	0	1	0	3	62					G	69094596	A	G	69094596	3	3	448	1	0	0	0	0	1	0	0	0	16237	14	1	3	305	3	TMPRSS11B	4	69094596	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	27153355	69094596	122059680	18	37639											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69095170	69095170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatgttttggactttccGtgtcatatatggtttattta	7	4	1	0	rs201912154		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69095170G>A	ENST00000332644.5	-	8	912	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGACTTTCCGTGTCATATAT	0.338													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.0					ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(751-753)Cgg>Tgg		transmembrane protease, serine 11B		G	TRP/ARG	0,4406		0,0,2203	65	63	64		751	0.6	0	4		64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TMPRSS11B	NM_182502.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	251/417	69095170	1,13005	2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69095170G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.751C>T	4.37:g.69095170G>A	ENSP00000330475:p.Arg251Trp						p.R251W	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			8	912	-			251			Peptidase S1.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.751C>T	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432304	0.25813	0.0	1.16E-4	ENSG00000185873	ENST00000332644	D	0.93712	-3.27	4.62	0.599	0.17519	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.744561	0.10956	N	0.615478	D	0.95159	0.8431	M	0.88775	2.98	0.09310	N	1	D	0.76494	0.999	P	0.60173	0.87	D	0.86408	0.1746	10	0.87932	D	0	.	0.999	0.01473	0.1792:0.1529:0.3535:0.3144	.	251	Q86T26	TM11B_HUMAN	W	251	ENSP00000330475:R251W	ENSP00000330475:R251W	R	-	1	2	TMPRSS11B	68777765	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-1.856000	0.01662	0.262000	0.21774	-0.310000	0.09108	CGG		0.338	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		27	28	0	0	0	1	0	27	28					A	69095170	G	A	69095170	3	1	448	1	0	0	0	0	1	0	0	0	16237	1144	40	1	511	1	TMPRSS11B	4	69095170	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	574	69095170	122059106	19	37640											
PRDM9	56979	broad.mit.edu	37	chr5	23526937	23526937	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggggagaagccctaTgtctgcagggagtgtgggcg	17	9	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:23526937T>G	ENST00000296682.3	+	11	1922	c.1740T>G	c.(1738-1740)taT>taG	p.Y580*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	580					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						AGAAGCCCTATGTCTGCAGGG	0.592										HNSCC(3;0.000094)																												ENST00000296682.3																			0				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						c.(1738-1740)taT>taG		PR domain containing 9							57	63	61					5																	23526937		2185	4295	6480	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526937T>G	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.1740T>G	5.37:g.23526937T>G	ENSP00000296682:p.Tyr580*	HNSCC(3;0.000094)					p.Y580*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1922	+			580					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.1740T>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	30	5.056374	0.93793	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	2.31	1.07	0.20283	.	0.303464	0.18174	N	0.149380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9678	6.0743	0.19907	0.0:0.2823:0.0:0.7177	.	.	.	.	X	580;346	.	ENSP00000253473:Y346X	Y	+	3	2	PRDM9	23562694	0.000000	0.05858	0.955000	0.39395	0.672000	0.39443	-0.764000	0.04735	-0.062000	0.13088	-1.558000	0.00888	TAT		0.592	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		46	54	0	0	0	1	0	46	54					G	23526937	T	G	23526937	4	3	448	1	0	0	0	0	0	1	0	0	12463	1471	51	5	1778	5	PRDM9	5	23526937	Nonsense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08		23526937	157388323	20	37641											
NAIP	4671	broad.mit.edu	37	chr5	70308494	70308494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagtaaaacccagcGgccgccatctcctgtggtat	10	13	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:70308494G>A	ENST00000517649.1	-	4	539	c.249C>T	c.(247-249)gcC>gcT	p.A83A	NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.A83A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	83					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAACCCAGCGGCCGCCATCT	0.493																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(247-249)gcC>gcT		NLR family, apoptosis inhibitory protein							85	78	80					5																	70308494		2202	4296	6498	SO:0001819	synonymous_variant	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308494G>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.249C>T	5.37:g.70308494G>A						NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Silent_p.A83A|NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000523981.1_Intron	p.A83A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	539	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	83					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Silent	SNP	ENST00000517649.1	37	c.249C>T	CCDS4009.1																																																																																				0.493	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		39	65	0	0	0	1	0	39	65					A	70308494	G	A	70308494	2	1	448	1	0	0	0	0	0	0	0	1	10147	1103	39	1		1	NAIP	5	70308494	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	46781557	70308494	110606766	21	37642											
PAQR8	85315	broad.mit.edu	37	chr6	52268806	52268806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatttcttctcctgcccCgtgcctgagaagtacttccc	7	15	2	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:52268806C>T	ENST00000442253.2	+	2	969	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PAQR8_ENST00000360726.3_Silent_p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	265					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.P265P(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCTCCTGCCCCGTGCCTGAGA	0.577																																						ENST00000442253.2																			1	Substitution - coding silent(1)	p.P265P(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(793-795)ccC>ccT		progestin and adipoQ receptor family member VIII							121	107	112					6																	52268806		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268806C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"chromosome 6 open reading frame 33"	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.795C>T	6.37:g.52268806C>T						PAQR8_ENST00000360726.3_Silent_p.P265P	p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	969	+	Lung NSC(77;0.0875)		265					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.795C>T	CCDS4941.1																																																																																				0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		26	24	0	0	0	1	0	26	24					T	52268806	C	T	52268806	2	4	448	1	0	0	0	0	0	0	0	1	11441	639	23	1		1	PAQR8	6	52268806	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		52268806	118846261	22	37643											
SLC22A2	6582	broad.mit.edu	37	chr6	160666576	160666576	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcttcaagtctcaggCgctaagaaaaggaatagaaa	8	8	3	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:160666576C>T	ENST00000366953.3	-	6	1217	c.959G>A	c.(958-960)cGc>cAc	p.R320H	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Splice_Site_p.R299H	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	320					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.R320H(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)	AAGTCTCAGGCGCTAAGAAAA	0.408																																						ENST00000366952.1																			1	Substitution - Missense(1)	p.R320H(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.e8-1		solute carrier family 22 (organic cation transporter), member 2							64	60	62					6																	160666576		2203	4300	6503	SO:0001630	splice_region_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160666576C>T	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.958-1G>A	6.37:g.160666576C>T						SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Splice_Site_p.R320_splice	p.R299_splice			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	8	2377	-		Breast(66;0.000776)|Ovarian(120;0.0303)	320					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Splice_Site	SNP	ENST00000366953.3	37	c.894_splice	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	C	8.510	0.866226	0.17250	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.74947	-0.89;-0.89	4.87	3.07	0.35406	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.543240	0.21107	N	0.080043	T	0.29491	0.0735	N	0.04260	-0.245	0.21416	N	0.999692	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.22977	-1.0201	10	0.44086	T	0.13	.	8.403	0.32597	0.0:0.6976:0.0:0.3024	.	320;320	O15244;O15244-2	S22A2_HUMAN;.	H	320;299	ENSP00000355920:R320H;ENSP00000355919:R299H	ENSP00000355919:R299H	R	-	2	0	SLC22A2	160586566	0.706000	0.27856	0.954000	0.39281	0.035000	0.12851	0.144000	0.16135	0.736000	0.32559	-0.137000	0.14449	CGC		0.408	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	Missense_Mutation	10	24	0	0	0	1	0	10	24					T	160666576	C	T	160666576	5	4	448	1	0	0	0	0	0	0	1	0	14450	782	27	1	732	1	SLC22A2	6	160666576	Splice_Site	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	108397770	160666576	10448491	23	37644											
TRIM50	135892	broad.mit.edu	37	chr7	72732892	72732892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgggccagccgctcccGggttccctgggcctgctcca	14	17	0	0	rs145742720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:72732892G>A	ENST00000333149.2	-	4	855	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	219						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGCCGCTCCCGGGTTCCCTGG	0.667																																						ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(655-657)Cgg>Tgg		tripartite motif containing 50		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	44	49	47		655	4.4	0	7	dbSNP_134	47	0,8592		0,0,4296	no	missense	TRIM50	NM_178125.2	101	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	219/488	72732892	1,12997	2203	4296	6499	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72732892G>A	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.655C>T	7.37:g.72732892G>A	ENSP00000327994:p.Arg219Trp					TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	p.R219W	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			4	855	-			219					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.655C>T	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546599	0.45383	2.27E-4	0.0	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.65549	-0.16;-0.16	4.36	4.36	0.52297	.	1.015530	0.07918	N	0.975346	T	0.46171	0.1379	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.09377	0.004;0.002	T	0.37753	-0.9692	10	0.66056	D	0.02	.	13.8016	0.63204	0.0:0.0:1.0:0.0	.	219;219	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	W	219	ENSP00000327994:R219W;ENSP00000413875:R219W	ENSP00000327994:R219W	R	-	1	2	TRIM50	72370828	0.061000	0.20836	0.006000	0.13384	0.933000	0.57130	2.481000	0.45215	2.253000	0.74438	0.461000	0.40582	CGG		0.667	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		29	120	0	0	0	1	0	29	120					A	72732892	G	A	72732892	3	1	448	1	0	0	0	0	1	0	0	0	16523	1115	39	1	824	1	TRIM50	7	72732892	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		72732892	86405771	24	37645											
LIMK1	3984	broad.mit.edu	37	chr7	73513561	73513561	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcactcacacaccgtccgcGtccaggggtgagtggccggc	14	15	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:73513561G>T	ENST00000336180.2	+	5	652	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	LIMK1_ENST00000418310.1_Missense_Mutation_p.V231F|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000491052.1_3'UTR	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	201	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CACCGTCCGCGTCCAGGGGTG	0.647																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(691-693)Gtc>Ttc		LIM domain kinase 1							51	48	49					7																	73513561		2202	4299	6501	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73513561G>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.601G>T	7.37:g.73513561G>T	ENSP00000336740:p.Val201Phe					LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000336180.2_Missense_Mutation_p.V201F	p.V231F			P53667	LIMK1_HUMAN			5	793	+		Lung NSC(55;0.137)	201			PDZ.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.691G>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128110	0.94473	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.67523	-0.27;-0.27;1.02;-0.27	5.59	5.59	0.84812	PDZ/DHR/GLGF (4);	0.061993	0.64402	D	0.000004	T	0.79627	0.4478	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.986	T	0.80683	-0.1273	10	0.72032	D	0.01	-47.8743	17.1444	0.86762	0.0:0.0:1.0:0.0	.	167;201	B7Z6I8;P53667	.;LIMK1_HUMAN	F	231;201;201;167;167	ENSP00000409717:V231F;ENSP00000336740:V201F;ENSP00000396480:V167F;ENSP00000444452:V167F	ENSP00000336740:V201F	V	+	1	0	LIMK1	73151497	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.209000	0.77916	2.660000	0.90430	0.644000	0.83932	GTC		0.647	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		32	163	1	0	4.3181e-19	1	4.62112e-19	32	163					T	73513561	G	T	73513561	3	4	448	1	0	0	0	0	1	0	0	0	8801	1145	40	4	619	4	LIMK1	7	73513561	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	780669	73513561	85625102	25	37646											
OR2AE1	81392	broad.mit.edu	37	chr7	99474198	99474198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgaattagggagttcacGgatgcccccaaccatgacat	10	10	1	2	rs200183500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:99474198G>A	ENST00000316368.2	-	1	482	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	153						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(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGTTCACGGATGCCCCCA	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		24102	0.0		0.0	False		,,,				2504	0.0					ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(457-459)tcC>tcT		olfactory receptor, family 2, subfamily AE, member 1		G		0,4406		0,0,2203	151	140	143		459	-3.1	0	7		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2AE1	NM_001005276.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		153/324	99474198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474198G>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.459C>T	7.37:g.99474198G>A							p.S153S	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	482	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		153					B2RPD2	Silent	SNP	ENST00000316368.2	37	c.459C>T	CCDS34696.1																																																																																				0.507	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			29	91	0	0	0	1	0	29	91					A	99474198	G	A	99474198	2	1	448	1	0	0	0	0	0	0	0	1	10983	1103	39	1		1	OR2AE1	7	99474198	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	25960637	99474198	59664465	26	37647											
ZNF7	7553	broad.mit.edu	37	chr8	146068294	146068294	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatcttattgaacaccagaGaatacacactagggcccagt	7	10	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr8:146068294G>A	ENST00000528372.1	+	5	2042	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K			P17097	ZNF7_HUMAN	zinc finger protein 7	601					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)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAACACCAGAGAATACACACT	0.453																																						ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1801-1803)aGa>aAa		zinc finger protein 7							78	83	81					8																	146068294		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146068294G>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"Zinc fingers, C2H2-type", "-"	13139	protein-coding gene	gene with protein product		194531	"zinc finger protein 7 (KOX 4, clone HF.16)"			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1802G>A	8.37:g.146068294G>A	ENSP00000432724:p.Arg601Lys					ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000525266.1_Intron	p.R601K			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	2042	+	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)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	601					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.1802G>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582153	0.65992	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.45	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000385	T	0.30572	0.0769	N	0.05050	-0.12	0.80722	D	1	B;B	0.27264	0.173;0.173	B;B	0.33295	0.161;0.161	T	0.10800	-1.0614	9	.	.	.	-19.243	11.4116	0.49929	0.0:0.0:0.729:0.271	.	612;601	B4DT08;P17097	.;ZNF7_HUMAN	K	601;612;505;601	ENSP00000320627:R601K;ENSP00000393260:R612K;ENSP00000439424:R505K;ENSP00000432724:R601K	.	R	+	2	0	ZNF7	146039098	0.001000	0.12720	1.000000	0.80357	0.949000	0.60115	1.137000	0.31479	2.462000	0.83206	0.655000	0.94253	AGA		0.453	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		37	70	0	0	0	1	0	37	70					A	146068294	G	A	146068294	3	1	448	1	0	0	0	0	1	0	0	0	18099	942	33	2	1816	2	ZNF7	8	146068294	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		146068294	295728	27	37648											
C9orf23	138716	broad.mit.edu	37	chr9	34611084	34611084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcttgacaatctcagcGcagctgacagcctttcctgc	9	16	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:34611084G>A	ENST00000297613.4	-	2	490	c.210C>T	c.(208-210)tgC>tgT	p.C70C	RPP25L_ENST00000378959.4_Silent_p.C70C|DCTN3_ENST00000479399.1_5'Flank	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	70						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CAATCTCAGCGCAGCTGACAG	0.622																																						ENST00000297613.4																			0											c.(208-210)tgC>tgT		ribonuclease P/MRP 25kDa subunit-like							61	60	60					9																	34611084		2203	4300	6503	SO:0001819	synonymous_variant	138716						nucleic acid binding	g.chr9:34611084G>A	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 23"	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.210C>T	9.37:g.34611084G>A						RPP25L_ENST00000378959.4_Silent_p.C70C	p.C70C	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN			2	490	-			70					D3DRM5	Silent	SNP	ENST00000297613.4	37	c.210C>T	CCDS6559.1																																																																																				0.622	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		3	43	0	0	0	1	0	3	43					A	34611084	G	A	34611084	2	1	448	1	0	0	0	0	0	0	0	1	2474	1079	38	1		1	C9orf23	9	34611084	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		34611084	106602347	28	37649											
USP20	10868	broad.mit.edu	37	chr9	132620334	132620334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctcttcccaggttgcCtgcccctatgttggctgcgg	10	16	1	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:132620334C>T	ENST00000315480.4	+	5	299	c.141C>T	c.(139-141)gcC>gcT	p.A47A	USP20_ENST00000358355.1_Silent_p.A47A|USP20_ENST00000372429.3_Silent_p.A47A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	47					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)				CCCAGGTTGCCTGCCCCTATG	0.557																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(139-141)gcC>gcT		ubiquitin specific peptidase 20							183	187	186					9																	132620334		2087	4221	6308	SO:0001819	synonymous_variant	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132620334C>T	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.141C>T	9.37:g.132620334C>T						USP20_ENST00000372429.3_Silent_p.A47A|USP20_ENST00000358355.1_Silent_p.A47A	p.A47A			Q9Y2K6	UBP20_HUMAN			5	299	+		Ovarian(14;0.00556)	47					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.141C>T	CCDS43892.1																																																																																				0.557	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			31	117	0	0	0	1	0	31	117					T	132620334	C	T	132620334	2	4	448	1	0	0	0	0	0	0	0	1	17049	668	24	2		2	USP20	9	132620334	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	98009250	132620334	8593097	29	37650											
GBGT1	26301	broad.mit.edu	37	chr9	136029210	136029210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataccctggccacctgcccCccgaagactgccccaccata	6	20	0	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:136029210C>T	ENST00000372040.3	-	7	1109	c.798G>A	c.(796-798)ggG>ggA	p.G266G	GBGT1_ENST00000540636.1_Silent_p.G249G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Missense_Mutation_p.G260E|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	266					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCACCTGCCCCCCGAAGACTG	0.612																																						ENST00000372043.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(778-780)gGg>gAg		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							68	69	69					9																	136029210		2203	4300	6503	SO:0001819	synonymous_variant	26301							g.chr9:136029210C>T	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"Glycosyltransferase family 6 domain containing"	20460	protein-coding gene	gene with protein product	"Forssman glycolipid synthetase (FS)", "Forssman synthetase"	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.798G>A	9.37:g.136029210C>T						GBGT1_ENST00000372040.3_Silent_p.G266G|GBGT1_ENST00000540636.1_Silent_p.G249G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR	p.G260E	NM_021996.4	NP_068836.2				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1064	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.779G>A	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	C	4.818	0.152157	0.09185	.	.	ENSG00000148288	ENST00000372043	T	0.27104	1.69	5.25	-1.72	0.08107	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10200	-1.0640	7	0.87932	D	0	-9.7844	3.8424	0.08920	0.2829:0.2413:0.0:0.4758	.	.	.	.	E	260	ENSP00000361113:G260E	ENSP00000361113:G260E	G	-	2	0	GBGT1	135019031	0.027000	0.19231	0.894000	0.35097	0.178000	0.23041	-1.005000	0.03674	-0.056000	0.13221	-0.291000	0.09656	GGG		0.612	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		35	111	0	0	0	1	0	35	111					T	136029210	C	T	136029210	2	4	448	1	0	0	0	0	0	0	0	1	6272	610	22	2		2	GBGT1	9	136029210	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	3408876	136029210	5184221	30	37651											
CHST3	9469	broad.mit.edu	37	chr10	73767262	73767264	+	In_Frame_Del	DEL	TCT	TCT	-													cttcaaccagcagggcaacaTcttctacctcttcgagccgc					rs145538723		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr10:73767262_73767264delTCT	ENST00000373115.4	+	3	910_912	c.473_475delTCT	c.(472-477)atcttc>atc	p.F159del		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	159					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CAGGGCAACATCTTCTACCTCTT	0.7																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(472-477)atc>a		carbohydrate (chondroitin 6) sulfotransferase 3																																				SO:0001651	inframe_deletion	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767262_73767264delTCT	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.473_475delTCT	10.37:g.73767265_73767267delTCT	ENSP00000362207:p.Phe159del						p.IF158del	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	910_912	+			158					O75099|Q52M30	In_Frame_Del	DEL	ENST00000373115.4	37	c.473_475delTCT	CCDS7312.1																																																																																				0.7	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		8	12						8	12	---	---	---	---	-	73767264	TCT	-	73767262	7	5	448	1	0	1	0	1	0	0	0	0	3405	1435	50	0	479	0	CHST3	10	73767262	In_Frame_Del	DEL	TCT	TCGA-S9-A7QW-01A-11D-A34A-08		73767262	61767485	31	37652											
OR51B6	390058	broad.mit.edu	37	chr11	5373614	5373614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccatttatctatagcattAaaactaagcagattcagagt	5	8	2	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:5373614A>G	ENST00000380219.1	+	1	877	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	293					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)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATAGCATTAAAACTAAGCA	0.408																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(877-879)Aaa>Gaa		olfactory receptor, family 51, subfamily B, member 6							109	109	109					11																	5373614		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373614A>G		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.877A>G	11.37:g.5373614A>G	ENSP00000369568:p.Lys293Glu					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.K293E	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	877	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	293						Missense_Mutation	SNP	ENST00000380219.1	37	c.877A>G	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841461	0.71488	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.37584	1.19	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000028	T	0.67924	0.2945	H	0.96943	3.91	0.32791	N	0.5012	D	0.54964	0.969	P	0.57324	0.818	D	0.84151	0.0423	10	0.87932	D	0	.	13.8994	0.63794	1.0:0.0:0.0:0.0	.	293	Q9H340	O51B6_HUMAN	E	292;293	ENSP00000369568:K293E	ENSP00000369568:K293E	K	+	1	0	OR51B6	5330190	0.771000	0.28555	1.000000	0.80357	0.822000	0.46500	6.281000	0.72632	2.148000	0.66965	0.528000	0.53228	AAA		0.408	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		4	113	0	0	0	1	0	4	113					G	5373614	A	G	5373614	3	3	448	1	0	0	0	0	1	0	0	0	11092	363	13	3	879	3	OR51B6	11	5373614	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08		5373614	129632902	32	37653											
OR4A5	81318	broad.mit.edu	37	chr11	51411540	51411540	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcatctctgaatttctcaAcgtatatattaaaggactca	4	9	4	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:51411540A>T	ENST00000319760.6	-	1	908	c.856T>A	c.(856-858)Ttg>Atg	p.L286M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	286						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)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAATTTCTCAACGTATATATT	0.333																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(856-858)Ttg>Atg		olfactory receptor, family 4, subfamily A, member 5							34	35	35					11																	51411540		2201	4293	6494	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411540A>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.856T>A	11.37:g.51411540A>T	ENSP00000367664:p.Leu286Met						p.L286M	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	908	-		all_lung(304;0.236)	286					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.856T>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.980	-0.210506	0.06140	.	.	ENSG00000221840	ENST00000319760	T	0.48836	0.8	2.2	-2.09	0.07232	.	0.000000	0.36893	N	0.002346	T	0.35248	0.0925	M	0.64404	1.975	0.18873	N	0.999989	P	0.43287	0.802	B	0.39562	0.303	T	0.31806	-0.9930	10	0.87932	D	0	.	2.7716	0.05336	0.5257:0.0:0.2764:0.198	.	286	Q8NH83	OR4A5_HUMAN	M	286	ENSP00000367664:L286M	ENSP00000367664:L286M	L	-	1	2	OR4A5	51268116	0.057000	0.20700	0.056000	0.19401	0.108000	0.19459	0.325000	0.19628	-0.471000	0.06891	0.136000	0.15936	TTG		0.333	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		3	56	0	0	0	1	0	3	56					T	51411540	A	T	51411540	3	4	448	1	0	0	0	0	1	0	0	0	11043	40	2	5	95	5	OR4A5	11	51411540	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	46037926	51411540	83594976	33	37654											
OR5M9	390162	broad.mit.edu	37	chr11	56230565	56230565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagacctccacgtggacaaCggcaatgaaaaagtagcact	9	10	0	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:56230565C>T	ENST00000279791.1	-	1	312	c.313G>A	c.(313-315)Gtt>Att	p.V105I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	105						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(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACGTGGACAACGGCAATGAAA	0.473																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(313-315)Gtt>Att		olfactory receptor, family 5, subfamily M, member 9							129	121	124					11																	56230565		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230565C>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.313G>A	11.37:g.56230565C>T	ENSP00000279791:p.Val105Ile						p.V105I	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	312	-	Esophageal squamous(21;0.00448)		105					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.313G>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956894	0.18507	.	.	ENSG00000150269	ENST00000279791	T	0.01323	5.01	4.49	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.177136	0.27311	N	0.019943	T	0.00998	0.0033	N	0.19112	0.55	0.09310	N	1	B	0.22746	0.074	B	0.14578	0.011	T	0.48636	-0.9018	10	0.87932	D	0	-13.9262	3.3171	0.07036	0.0893:0.1485:0.4593:0.303	.	105	Q8NGP3	OR5M9_HUMAN	I	105	ENSP00000279791:V105I	ENSP00000279791:V105I	V	-	1	0	OR5M9	55987141	0.000000	0.05858	0.555000	0.28281	0.548000	0.35241	-0.760000	0.04756	0.461000	0.27071	-0.992000	0.02543	GTT		0.473	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		41	33	0	0	0	1	0	41	33					T	56230565	C	T	56230565	3	4	448	1	0	0	0	0	1	0	0	0	11177	536	19	1	621	1	OR5M9	11	56230565	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	4819025	56230565	78775951	34	37655											
CDKN1B	1027	broad.mit.edu	37	chr12	12870928	12870929	+	Frame_Shift_Ins	INS	-	-	GGAAGAGGCG													gagaagcactgcagagacatINSggaagaggcgagccagcgca					rs543122580		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:12870928_12870929insGGAAGAGGCG	ENST00000228872.4	+	1	871_872	c.155_156insGGAAGAGGCG	c.(154-159)atggaafs	p.-53fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.-53fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|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 kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.M52I(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGCAGAGACATGGAAGAGGCGA	0.594																																						ENST00000228872.4																			1	Substitution - Missense(1)	p.M52I(1)	lung(1)	breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(154-156)agafs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870928_12870929insGGAAGAGGCG	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.156_165dupGGAAGAGGCG	12.37:g.12870929_12870938dupGGAAGAGGCG	ENSP00000228872:p.Glu53fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.R52fs	p.R52fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	871_872	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	52					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.155_156insGGAAGAGGCG	CCDS8653.1																																																																																				0.594	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		10	76						10	76	---	---	---	---	GGAAGAGGCG	12870929	-	GGAAGAGGCG	12870928	7	5	448	1	0	1	1	0	0	0	0	0	3159	1464	51	0	157	0	CDKN1B	12	12870928	Frame_Shift_Ins	INS	-	TCGA-S9-A7QW-01A-11D-A34A-08		12870928	120980967	35	37656											
NT5DC3	51559	broad.mit.edu	37	chr12	104187730	104187730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataccaatgtctgcttcaaTtgctctgtacattattcctt	4	11	3	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:104187730T>C	ENST00000392876.3	-	7	839	c.799A>G	c.(799-801)Att>Gtt	p.I267V	NT5DC3_ENST00000465502.1_5'Flank	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	267						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTGCTTCAATTGCTCTGTAC	0.403																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(799-801)Att>Gtt		5'-nucleotidase domain containing 3							233	202	212					12																	104187730		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104187730T>C	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.799A>G	12.37:g.104187730T>C	ENSP00000376615:p.Ile267Val						p.I267V	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			7	839	-			267					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.799A>G	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	T	1.989	-0.432169	0.04669	.	.	ENSG00000111696	ENST00000392876	T	0.19938	2.11	5.73	4.59	0.56863	HAD-like domain (1);	0.109304	0.64402	N	0.000004	T	0.10035	0.0246	N	0.11427	0.14	0.40935	D	0.984423	B	0.14805	0.011	B	0.28011	0.085	T	0.13229	-1.0517	10	0.02654	T	1	-30.4477	8.8668	0.35291	0.0:0.1437:0.0:0.8563	.	267	Q86UY8	NT5D3_HUMAN	V	267	ENSP00000376615:I267V	ENSP00000376615:I267V	I	-	1	0	NT5DC3	102711860	1.000000	0.71417	0.626000	0.29213	0.799000	0.45148	3.564000	0.53791	1.001000	0.39076	0.455000	0.32223	ATT		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		35	51	0	0	0	1	0	35	51					C	104187730	T	C	104187730	3	2	448	1	0	0	0	0	1	0	0	0	10692	1493	52	3	879	3	NT5DC3	12	104187730	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	91316802	104187730	29664165	36	37657											
SYT16	83851	broad.mit.edu	37	chr14	62542108	62542108	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatgtggagtccagAggcaagttatttgtttttca	9	9	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:62542108A>G	ENST00000430451.2	+	3	1189	c.992A>G	c.(991-993)gAg>gGg	p.E331G	SYT16_ENST00000446982.2_Splice_Site_p.E331G|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	331					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGTCCAGAGGCAAGTTAT	0.443																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.e3+1		synaptotagmin XVI							124	121	122					14																	62542108		1889	4094	5983	SO:0001630	splice_region_variant	83851							g.chr14:62542108A>G	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.993+1A>G	14.37:g.62542108A>G						RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Splice_Site_p.E331_splice	p.E331_splice	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1189	+			331					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Splice_Site	SNP	ENST00000430451.2	37	c.993_splice	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723146	0.89298	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.63417	-0.04;3.36	5.65	5.65	0.86999	.	.	.	.	.	T	0.76807	0.4039	M	0.68593	2.085	0.80722	D	1	D;B	0.71674	0.998;0.284	D;B	0.68039	0.955;0.234	T	0.78889	-0.2026	9	0.66056	D	0.02	-30.406	16.0399	0.80667	1.0:0.0:0.0:0.0	.	331;331	B4DZH2;Q17RD7	.;SYT16_HUMAN	G	331	ENSP00000388023:E331G;ENSP00000394700:E331G	ENSP00000394700:E331G	E	+	2	0	SYT16	61611861	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.830000	0.86741	2.371000	0.80710	0.533000	0.62120	GAG		0.443	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	Missense_Mutation	41	61	0	0	0	1	0	41	61					G	62542108	A	G	62542108	5	3	448	1	0	0	0	0	0	0	1	0	15469	318	11	3	1002	3	SYT16	14	62542108	Splice_Site	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08		62542108	44807432	37	37658											
SERPINA5	5104	broad.mit.edu	37	chr14	95057144	95057144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcctatcagctggagaaaGtcctccccagtctggggatc	11	13	2	1	rs61761874		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:95057144G>T	ENST00000554866.1	+	4	1063	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F|RP11-986E7.7_ENST00000553947.1_5'Flank|SERPINA5_ENST00000329597.7_Missense_Mutation_p.V317F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	317					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGGAGAAAGTCCTCCCCAG	0.517																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(949-951)Gtc>Ttc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						104	88	93					14																	95057144		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95057144G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"Serine (or cysteine) peptidase inhibitors"	8723	protein-coding gene	gene with protein product		601841	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.949G>T	14.37:g.95057144G>T	ENSP00000451126:p.Val317Phe					SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554866.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F	p.V317F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	1159	+			317					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.949G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623048	0.14193	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000554506;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	4.17	-2.49	0.06403	Serpin domain (3);	0.749099	0.11981	N	0.510796	T	0.80869	0.4706	M	0.69248	2.105	0.20926	N	0.999826	B	0.29988	0.264	B	0.30782	0.12	T	0.71130	-0.4682	10	0.87932	D	0	.	0.8829	0.01238	0.3886:0.1066:0.1929:0.312	.	317	P05154	IPSP_HUMAN	F	317;317;317;93;169;241;317	ENSP00000450837:V317F;ENSP00000451126:V317F;ENSP00000333203:V317F;ENSP00000451610:V317F	ENSP00000333203:V317F	V	+	1	0	SERPINA5	94126897	0.000000	0.05858	0.145000	0.22337	0.259000	0.26198	-1.393000	0.02521	-0.403000	0.07622	0.561000	0.74099	GTC		0.517	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		33	59	1	0	1.62565e-12	1	1.70973e-12	33	59					T	95057144	G	T	95057144	3	4	448	1	0	0	0	0	1	0	0	0	14092	1029	36	4	959	4	SERPINA5	14	95057144	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	32515036	95057144	12292396	38	37659											
PEX11A	8800	broad.mit.edu	37	chr15	90226670	90226670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcctgctatagaggacaCaagacctccaagtccaatga	8	12	0	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr15:90226670C>A	ENST00000300056.3	-	3	831	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000559170.1_3'UTR	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	228					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATAGAGGACACAAGACCTCCA	0.463																																						ENST00000300056.3																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(682-684)Gtg>Ttg		peroxisomal biogenesis factor 11 alpha							244	245	245					15																	90226670		2200	4299	6499	SO:0001583	missense	8800				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane		g.chr15:90226670C>A	AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"peroxisomal biogenesis factor 11A"			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.682G>T	15.37:g.90226670C>A	ENSP00000300056:p.Val228Leu					PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L|PEX11A_ENST00000559170.1_3'UTR	p.V228L	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		3	831	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		228					B4DV88	Missense_Mutation	SNP	ENST00000300056.3	37	c.682G>T	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981310	0.34942	.	.	ENSG00000166821	ENST00000300056	T	0.46819	0.86	5.22	2.09	0.27110	.	0.258172	0.40064	N	0.001181	T	0.32763	0.0840	L	0.42245	1.32	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.07046	-1.0793	10	0.18710	T	0.47	-4.7172	6.0233	0.19640	0.1158:0.6306:0.1704:0.0833	.	228	O75192	PX11A_HUMAN	L	228	ENSP00000300056:V228L	ENSP00000300056:V228L	V	-	1	0	PEX11A	88027674	0.020000	0.18652	0.647000	0.29507	0.983000	0.72400	0.238000	0.18004	0.739000	0.32628	0.655000	0.94253	GTG		0.463	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847		5	280	1	0	0.00198382	1	0.00201688	5	280					A	90226670	C	A	90226670	3	1	448	1	0	0	0	0	1	0	0	0	11737	478	17	4	65	4	PEX11A	15	90226670	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		90226670	12304722	39	37660											
PELP1	27043	broad.mit.edu	37	chr17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagctcctgctcccagctctCggtgtgcttcaggccttggg	12	14	2	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:4579733C>T	ENST00000574876.1	-	7	789	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000301396.4_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(772-774)Gag>Aag		proline, glutamate and leucine rich protein 1							41	44	43					17																	4579733		1977	4153	6130	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4579733C>T		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.772G>A	17.37:g.4579733C>T	ENSP00000461625:p.Glu258Lys					PELP1_ENST00000574876.1_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000572293.1_Missense_Mutation_p.E308K	p.E258K			Q8IZL8	PELP1_HUMAN			7	997	-			258					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.772G>A	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049728	0.19827	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.66460	0.76;-0.21;1.39	5.31	4.33	0.51752	.	0.190261	0.43416	D	0.000566	T	0.51958	0.1705	L	0.50333	1.59	0.31718	N	0.638708	P;P	0.41710	0.76;0.76	B;B	0.22152	0.038;0.038	T	0.62201	-0.6904	10	0.32370	T	0.25	-7.6358	13.1228	0.59336	0.1613:0.8387:0.0:0.0	.	111;258	E7EV54;Q8IZL8	.;PELP1_HUMAN	K	258;258;111	ENSP00000301396:E258K;ENSP00000269230:E258K;ENSP00000416231:E111K	ENSP00000269230:E258K	E	-	1	0	AC091153.1	4526482	1.000000	0.71417	0.885000	0.34714	0.002000	0.02628	6.010000	0.70753	1.464000	0.47987	-0.187000	0.12897	GAG		0.607	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		25	29	0	0	0	1	0	25	29					T	4579733	C	T	4579733	3	4	448	1	0	0	0	0	1	0	0	0	11725	893	31	1	2664	1	PELP1	17	4579733	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		4579733	76615477	40	37661											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	8	12	2	0	rs587778720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:7578211C>T	ENST00000269305.4	-	6	827	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R213Q|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(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	GRCh37	CM004906|CM022474	TP53	M		c.(637-639)cGa>cAa	Other conserved DNA damage response genes	tumor protein p53							132	118	122					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211C>T	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.638G>A	17.37:g.7578211C>T	ENSP00000269305:p.Arg213Gln	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q	p.R213Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	770	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.638G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233765	0.97399	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	N	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.50039	D	0.999845	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;0.993;0.996;1.0;0.995;0.994;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213Q;ENSP00000352610:R213Q;ENSP00000269305:R213Q;ENSP00000398846:R213Q;ENSP00000391127:R213Q;ENSP00000391478:R213Q;ENSP00000425104:R81Q;ENSP00000423862:R120Q	ENSP00000269305:R213Q	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	2	0	0	0	1	0	25	2					T	7578211	C	T	7578211	3	4	448	1	0	0	0	0	1	0	0	0	16378	884	31	1	656	1	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	2998478	7578211	73616999	41	37662											
CSHL1	1444	broad.mit.edu	37	chr17	61987185	61987185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagttcttgagcagtgcGtcatggttgtgcgagtttgt	14	7	2	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:61987185G>A	ENST00000309894.5	-	5	554	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Silent_p.D123D|CSHL1_ENST00000438387.2_Silent_p.D102D	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	185						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TGAGCAGTGCGTCATGGTTGT	0.567																																						ENST00000259003.10																			0				endometrium(3)|lung(6)	9						c.(367-369)gaC>gaT		chorionic somatomammotropin hormone-like 1							223	197	206					17																	61987185		2203	4300	6503	SO:0001819	synonymous_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987185G>A	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.555C>T	17.37:g.61987185G>A						CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000309894.5_Silent_p.D185D|CSHL1_ENST00000438387.2_Silent_p.D102D	p.D123D			Q14406	CSHL_HUMAN			5	513	-			185					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.369C>T	CCDS11652.1																																																																																				0.567	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		6	163	0	0	0	1	0	6	163					A	61987185	G	A	61987185	2	1	448	1	0	0	0	0	0	0	0	1	3942	1136	40	1		1	CSHL1	17	61987185	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	54408974	61987185	19208025	42	37663											
OSCAR	126014	broad.mit.edu	37	chr19	54600417	54600417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagccggctgagctccCagccatggcttagggtggta	14	11	0	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54600417C>T	ENST00000284648.6	-	4	302	c.105G>A	c.(103-105)ctG>ctA	p.L35L	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000391761.1_Silent_p.L24L|OSCAR_ENST00000356532.3_Silent_p.L39L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	35	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCTGAGCTCCCAGCCATGGCT	0.602																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(103-105)ctG>ctA		osteoclast associated, immunoglobulin-like receptor							49	54	52					19																	54600417		2203	4300	6503	SO:0001819	synonymous_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600417C>T	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.105G>A	19.37:g.54600417C>T						OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000356532.3_Silent_p.L39L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000391761.1_Silent_p.L24L	p.L35L			Q8IYS5	OSCAR_HUMAN			4	302	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		35			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	ENST00000284648.6	37	c.105G>A																																																																																					0.602	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		32	14	0	0	0	1	0	32	14					T	54600417	C	T	54600417	2	4	448	1	0	0	0	0	0	0	0	1	11285	581	21	2		2	OSCAR	19	54600417	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		54600417	4528566	43	37664											
PRPF31	26121	broad.mit.edu	37	chr19	54628008	54628008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaccggctacatctaccaCagtgacatcgtgcagtccct	7	16	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54628008C>T	ENST00000321030.4	+	8	1177	c.828C>T	c.(826-828)caC>caT	p.H276H	PRPF31_ENST00000419967.1_Silent_p.H276H|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	276	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)					ACATCTACCACAGTGACATCG	0.667																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	GRCh37	CD033222	PRPF31	D		c.(826-828)caC>caT		pre-mRNA processing factor 31							84	70	75					19																	54628008		2203	4300	6503	SO:0001819	synonymous_variant	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54628008C>T	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.828C>T	19.37:g.54628008C>T						PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Silent_p.H276H	p.H276H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			8	1177	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		276			Nop.		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Silent	SNP	ENST00000321030.4	37	c.828C>T	CCDS12879.1																																																																																				0.667	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			19	11	0	0	0	1	0	19	11					T	54628008	C	T	54628008	2	4	448	1	0	0	0	0	0	0	0	1	12566	477	17	2		2	PRPF31	19	54628008	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	27591	54628008	4500975	44	37665											
TRABD	80305	broad.mit.edu	37	chr22	50636345	50636345	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagacctgcaccgcaccatCgtctcggagcgcgacgtcta	10	17	2	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr22:50636345C>T	ENST00000303434.4	+	8	884	c.765C>T	c.(763-765)atC>atT	p.I255I	TRABD_ENST00000380909.4_Silent_p.I255I|RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395827.1_Silent_p.I255I|TRABD_ENST00000395829.1_Silent_p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	255										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		ACCGCACCATCGTCTCGGAGC	0.652																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(763-765)atC>atT		TraB domain containing							144	108	120					22																	50636345		2203	4300	6503	SO:0001819	synonymous_variant	80305							g.chr22:50636345C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.765C>T	22.37:g.50636345C>T						TRABD_ENST00000395829.1_Silent_p.I255I|TRABD_ENST00000395827.1_Silent_p.I255I|TRABD_ENST00000380909.4_Silent_p.I255I	p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	8	884	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	255					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.765C>T	CCDS14086.1																																																																																				0.652	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		52	65	0	0	0	1	0	52	65					T	50636345	C	T	50636345	2	4	448	1	0	0	0	0	0	0	0	1	16432	874	31	1		1	TRABD	22	50636345	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		50636345	668221	45	37666											
DMD	1756	broad.mit.edu	37	chrX	32456373	32456373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacctcttcatgtagttcCctccaacgagaattaaatgt	5	11	2	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:32456373C>T	ENST00000357033.4	-	29	4262	c.4056G>A	c.(4054-4056)agG>agA	p.R1352R	DMD_ENST00000378677.2_Silent_p.R1348R	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	1352					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)				CATGTAGTTCCCTCCAACGAG	0.383																																						ENST00000357033.4																			0				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						c.(4054-4056)agG>agA		dystrophin							106	90	95					X																	32456373		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32456373C>T	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.4056G>A	X.37:g.32456373C>T						DMD_ENST00000378677.2_Silent_p.R1348R	p.R1352R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			29	4262	-		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)	1352					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.4056G>A	CCDS14233.1																																																																																				0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	95	0	0	0	1	0	4	95					T	32456373	C	T	32456373	2	4	448	1	0	0	0	0	0	0	0	1	4580	622	22	2		2	DMD	23	32456373	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		32456373	122814187	46	37667											
USP9X	8239	broad.mit.edu	37	chrX	41069807	41069807	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaacaacacgatgctttAgaattttttaattcattggt	7	6	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:41069807A>C	ENST00000324545.8	+	33	5694	c.5061A>C	c.(5059-5061)ttA>ttC	p.L1687F	USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1687	USP.				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						ACGATGCTTTAGAATTTTTTA	0.353																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				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						c.(5059-5061)ttA>ttC		ubiquitin specific peptidase 9, X-linked							117	111	113					X																	41069807		2174	4291	6465	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41069807A>C	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.5061A>C	X.37:g.41069807A>C	ENSP00000316357:p.Leu1687Phe					USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			33	5694	+			1687					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5061A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501633	0.44455	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.05649	3.41;3.41	5.1	3.94	0.45596	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.04634	0.0126	L	0.31207	0.915	0.53688	D	0.999974	P;B	0.43826	0.818;0.362	B;B	0.39419	0.299;0.238	T	0.49113	-0.8973	10	0.10111	T	0.7	.	9.907	0.41381	0.9182:0.0:0.0818:0.0	.	1687;1687	Q93008-1;Q93008	.;USP9X_HUMAN	F	1687	ENSP00000367558:L1687F;ENSP00000316357:L1687F	ENSP00000316357:L1687F	L	+	3	2	USP9X	40954751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.959000	0.63666	0.605000	0.29947	0.481000	0.45027	TTA		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		9	144	0	0	0	1	0	9	144					C	41069807	A	C	41069807	3	2	448	1	0	0	0	0	1	0	0	0	17087	417	15	5	5187	5	USP9X	23	41069807	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	8613434	41069807	114200753	47	37668											
ZMYM3	9203	broad.mit.edu	37	chrX	70469386	70469386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaggagctcagggccAggactcccggtcttggtgta	16	9	2	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:70469386A>G	ENST00000353904.2	-	7	1582	c.1395T>C	c.(1393-1395)ccT>ccC	p.P465P	ZMYM3_ENST00000373988.1_Silent_p.P467P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373998.1_Silent_p.P465P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.P467P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	465					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)					GCTCAGGGCCAGGACTCCCGG	0.557																																						ENST00000373998.1																			0				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						c.(1393-1395)ccT>ccC		zinc finger, MYM-type 3							116	80	92					X																	70469386		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469386A>G	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.1395T>C	X.37:g.70469386A>G						ZMYM3_ENST00000373988.1_Silent_p.P467P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373982.1_Silent_p.P467P|ZMYM3_ENST00000353904.2_Silent_p.P465P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000489332.1_5'UTR	p.P465P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			7	2092	-	Renal(35;0.156)		465					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.1395T>C	CCDS14409.1																																																																																				0.557	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	8	0	0	0	1	0	6	8					G	70469386	A	G	70469386	2	3	448	1	0	0	0	0	0	0	0	1	17698	175	7	3		3	ZMYM3	23	70469386	Silent	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	29399579	70469386	84801174	48	37669											
ATRX	546	broad.mit.edu	37	chrX	76939556	76939557	+	Frame_Shift_Ins	INS	-	-	A													ttcttaatatcagccaacacINSagacttaaaagccttaagct							TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:76939556_76939557insA	ENST00000373344.5	-	9	1405_1406	c.1191_1192insT	c.(1189-1194)tctgtgfs	p.V398fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					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						TCAGCCAACACAGACTTAAAAG	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1189-1194)tctgttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939556_76939557insA	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.1192dupT	X.37:g.76939557_76939557dupA	ENSP00000362441:p.Val398fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs	p.V398fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1405_1406	-			398					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1191_1192insT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		242	320						242	320	---	---	---	---	A	76939557	-	A	76939556	7	5	448	1	0	1	1	0	0	0	0	0	1208	478	17	0	6394	0	ATRX	23	76939556	Frame_Shift_Ins	INS	-	TCGA-S9-A7QW-01A-11D-A34A-08	6470170	76939556	78331004	49	37670											
MUM1L1	139221	broad.mit.edu	37	chrX	105450235	105450235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccctggctgttccctcTgaatgctctgctttctcaga	9	13	3	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:105450235T>C	ENST00000357175.2	+	4	1459	c.810T>C	c.(808-810)tcT>tcC	p.S270S	MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000337685.2_Silent_p.S270S	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	270						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						CTGTTCCCTCTGAATGCTCTG	0.473																																						ENST00000337685.2																			0				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						c.(808-810)tcT>tcC		melanoma associated antigen (mutated) 1-like 1							43	38	40					X																	105450235		1872	4102	5974	SO:0001819	synonymous_variant	139221							g.chrX:105450235T>C	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.810T>C	X.37:g.105450235T>C						MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000357175.2_Silent_p.S270S	p.S270S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	1595	+			270					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	ENST00000357175.2	37	c.810T>C	CCDS55469.1																																																																																				0.473	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		10	12	0	0	0	1	0	10	12					C	105450235	T	C	105450235	2	2	448	1	0	0	0	0	0	0	0	1	9986	1567	55	3		3	MUM1L1	23	105450235	Silent	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	28510679	105450235	49820325	50	37671											
MTMR1	8776	broad.mit.edu	37	chrX	149905114	149905114	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttacccaaatgcagaActtgtgttcttggagatcca	9	9	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:149905114A>T	ENST00000370390.3	+	10	1261	c.1104A>T	c.(1102-1104)gaA>gaT	p.E368D	MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000445323.2_Missense_Mutation_p.E376D	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	368	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)					CAAATGCAGAACTTGTGTTCT	0.403																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1126-1128)gaA>gaT		myotubularin related protein 1							175	139	151					X																	149905114		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149905114A>T	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.1104A>T	X.37:g.149905114A>T	ENSP00000359417:p.Glu368Asp					MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000370390.3_Missense_Mutation_p.E368D	p.E376D			Q13613	MTMR1_HUMAN			11	1249	+	Acute lymphoblastic leukemia(192;6.56e-05)		368			Myotubularin phosphatase.|Substrate binding (By similarity).		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.1128A>T	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305039	0.40795	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863	D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76	5.26	-4.12	0.03916	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.90964	0.7159	M	0.82716	2.605	0.80722	D	1	B;B	0.28636	0.218;0.022	B;B	0.35655	0.207;0.015	T	0.80165	-0.1496	10	0.52906	T	0.07	.	18.3439	0.90314	0.143:0.0:0.857:0.0	.	368;376	Q13613;F8WA39	MTMR1_HUMAN;.	D	274;368;376;368;368	ENSP00000441879:E274D;ENSP00000359417:E368D;ENSP00000414178:E376D;ENSP00000440534:E368D;ENSP00000387446:E368D	ENSP00000359417:E368D	E	+	3	2	MTMR1	149655772	0.994000	0.37717	0.010000	0.14722	0.481000	0.33189	0.375000	0.20518	-1.247000	0.02507	-0.377000	0.06932	GAA		0.403	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		40	43	0	0	0	1	0	40	43					T	149905114	A	T	149905114	3	4	448	1	0	0	0	0	1	0	0	0	9938	40	2	5	1142	5	MTMR1	23	149905114	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	44454879	149905114	5365446	51	37672											
PLXNB3	5365	broad.mit.edu	37	chrX	153032991	153032991	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acaacaacagctacgtcgggGcctttgccgacgcccgctcc	10	17	0	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:153032991G>C	ENST00000361971.5	+	3	823	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A260P|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538776.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	237	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)					CTACGTCGGGGCCTTTGCCGA	0.721																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(778-780)Gcc>Ccc		plexin B3							17	15	16					X																	153032991		2188	4289	6477	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032991G>C	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.709G>C	X.37:g.153032991G>C	ENSP00000355378:p.Ala237Pro					PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A237P	p.A260P	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	1049	+	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)		237			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.778G>C	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305944	0.60305	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.06528	3.29;3.29	4.88	4.0	0.46444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.329046	0.26851	N	0.022161	T	0.21062	0.0507	M	0.79123	2.44	0.34189	D	0.671897	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.18335	-1.0340	10	0.66056	D	0.02	.	7.4712	0.27351	0.2005:0.0:0.7995:0.0	.	260;237	F5H773;Q9ULL4	.;PLXB3_HUMAN	P	260;237	ENSP00000442736:A260P;ENSP00000355378:A237P	ENSP00000355378:A237P	A	+	1	0	PLXNB3	152686185	0.998000	0.40836	0.157000	0.22605	0.458000	0.32498	3.001000	0.49488	2.003000	0.58678	0.529000	0.55759	GCC		0.721	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			19	12	0	0	0	1	0	19	12					C	153032991	G	C	153032991	3	2	448	1	0	0	0	0	1	0	0	0	12125	1203	42	4	833	4	PLXNB3	23	153032991	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	3127877	153032991	2237569	52	37673											
RABGAP1L	9910	broad.mit.edu	37	chr1	174926682	174926682	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacccaatggatagatAcaaggtatgagaaatatgtt	11	4	0	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:174926682A>G	ENST00000251507.4	+	20	2603	c.2429A>G	c.(2428-2430)tAc>tGc	p.Y810C	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000489615.1_Missense_Mutation_p.Y129C|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGGATAGATACAAGGTATGA	0.423																																						ENST00000489615.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(385-387)tAc>tGc		RAB GTPase activating protein 1-like							95	95	95					1																	174926682		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174926682A>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2429A>G	1.37:g.174926682A>G	ENSP00000251507:p.Tyr810Cys					RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.Y810C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C	p.Y129C	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN			3	787	+			810			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.386A>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114350	0.77210	.	.	ENSG00000152061	ENST00000251507;ENST00000367692;ENST00000325589;ENST00000367687;ENST00000347255;ENST00000489615;ENST00000478442;ENST00000465412;ENST00000486220;ENST00000392064	T;T;T;T	0.14516	3.3;2.5;2.72;2.72	6.17	6.17	0.99709	.	0.058557	0.64402	D	0.000001	T	0.28962	0.0719	L	0.38531	1.155	0.52099	D	0.999946	D;D;B;B;D;D	0.76494	0.998;0.999;0.037;0.14;0.99;0.998	P;D;B;B;P;P	0.69307	0.847;0.963;0.048;0.078;0.882;0.885	T	0.00797	-1.1562	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	67;117;129;136;137;810	F5H8L0;Q9Y3L8;Q5R372-8;Q5R372-6;Q5R372-5;Q5R372	.;.;.;.;.;RBG1L_HUMAN	C	810;822;117;136;137;129;67;67;67;67	ENSP00000251507:Y810C;ENSP00000318603:Y117C;ENSP00000356660:Y136C;ENSP00000281844:Y137C	ENSP00000251507:Y810C	Y	+	2	0	RABGAP1L	173193305	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.977000	0.76141	2.371000	0.80710	0.533000	0.62120	TAC		0.423	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		12	26	0	0	0	1	0	12	26					G	174926682	A	G	174926682	3	3	449	1	0	0	0	0	1	0	0	0	12965	391	14	3	2618	3	RABGAP1L	1	174926682	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		174926682	74323939	1	37674											
C4BPA	722	broad.mit.edu	37	chr1	207287489	207287489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcatttgctgccccgatgGatattacgttgactgagaca	9	9	1	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:207287489G>A	ENST00000367070.3	+	3	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	63	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(187-189)Gat>Aat		complement component 4 binding protein, alpha							195	177	183					1																	207287489		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207287489G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.187G>A	1.37:g.207287489G>A	ENSP00000356037:p.Asp63Asn						p.D63N	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			3	381	+			63			Sushi 1.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.187G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	1.692	-0.503756	0.04261	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.65364	-0.15;-0.15	5.25	6.55E-4	0.14043	Complement control module (2);Sushi/SCR/CCP (3);	1.810110	0.02798	N	0.122842	T	0.25044	0.0608	N	0.00760	-1.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45527	-0.9255	10	0.02654	T	1	.	2.9106	0.05736	0.516:0.0:0.1729:0.3111	.	63	P04003	C4BPA_HUMAN	N	63	ENSP00000356037:D63N;ENSP00000403386:D63N	ENSP00000356037:D63N	D	+	1	0	C4BPA	205354112	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.071000	0.11505	0.173000	0.19788	-1.004000	0.02495	GAT		0.478	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			43	76	0	0	0	1	0	43	76					A	207287489	G	A	207287489	3	1	449	1	0	0	0	0	1	0	0	0	2249	1174	41	2	193	2	C4BPA	1	207287489	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	32360807	207287489	41963132	2	37675											
R3HDM1	23518	broad.mit.edu	37	chr2	136467088	136467088	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgcagttcccagcagcttCaaggccaccaatgtacaggt	9	13	1	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:136467088C>A	ENST00000264160.4	+	21	2810	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	814							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCAGCTTCAAGGCCACCA	0.383																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2440-2442)Caa>Aaa		R3H domain containing 1							121	105	110					2																	136467088		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467088C>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2440C>A	2.37:g.136467088C>A	ENSP00000264160:p.Gln814Lys					R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K	p.Q814K	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	21	2810	+			814					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2440C>A	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.93|16.93|16.93	3.259143|3.259143|3.259143	0.59321|0.59321|0.59321	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000445855|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703	.|T;T;T;T;T|.	.|0.32753|.	.|1.47;1.44;1.46;1.44;1.44|.	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|.	.|0.287902|.	.|0.34484|.	.|N|.	.|0.003934|.	T|T|.	0.57213|0.57213|.	0.2038|0.2038|.	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.29526|0.29526|0.29526	N|N|N	0.853154|0.853154|0.853154	.|P;B;B;B|.	.|0.36837|.	.|0.571;0.116;0.156;0.094|.	.|B;B;B;B|.	.|0.39027|.	.|0.288;0.055;0.054;0.054|.	T|T|.	0.53892|0.53892|.	-0.8374|-0.8374|.	5|10|.	.|0.36615|.	.|T|.	.|0.2|.	-2.8567|-2.8567|-2.8567	19.286|19.286|19.286	0.94069|0.94069|0.94069	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|686;815;759;814|.	.|G5E9G8;E9PBB4;E9PG42;Q15032|.	.|.;.;.;R3HD1_HUMAN|.	L|K|X	109|686;814;685;759;815|537	.|ENSP00000386457:Q686K;ENSP00000264160:Q814K;ENSP00000331396:Q685K;ENSP00000386877:Q759K;ENSP00000387010:Q815K|.	.|ENSP00000264160:Q814K|.	F|Q|S	+|+|+	3|1|2	2|0|0	R3HDM1|R3HDM1|R3HDM1	136183558|136183558|136183558	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	4.081000|4.081000|4.081000	0.57627|0.57627|0.57627	2.647000|2.647000|2.647000	0.89833|0.89833|0.89833	0.644000|0.644000|0.644000	0.83932|0.83932|0.83932	TTC|CAA|TCA		0.383	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		3	39	1	0	1	1	1	3	39					A	136467088	C	A	136467088	3	1	449	1	0	0	0	0	1	0	0	0	12887	827	29	4	2514	4	R3HDM1	2	136467088	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		136467088	106732285	3	37676											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	58	0	0	0	1	0	34	58					T	209113112	C	T	209113112	3	4	449	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	72646024	209113112	34086261	4	37677											
ZBTB20	26137	broad.mit.edu	37	chr3	114058161	114058161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggtgaagcgcttgttGcagatactacactggtatgc	12	8	1	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:114058161G>A	ENST00000474710.1	-	5	2095	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000357258.3_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000462705.1_Silent_p.C566C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	639						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCGCTTGTTGCAGATACTAC	0.512																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1696-1698)tgC>tgT		zinc finger and BTB domain containing 20							203	174	184					3																	114058161		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058161G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1917C>T	3.37:g.114058161G>A						ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000357258.3_Silent_p.C566C|ZBTB20_ENST00000474710.1_Silent_p.C639C	p.C566C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2519	-			639					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1698C>T	CCDS54626.1																																																																																				0.512	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		41	54	0	0	0	1	0	41	54					A	114058161	G	A	114058161	2	1	449	1	0	0	0	0	0	0	0	1	17526	1311	46	2		2	ZBTB20	3	114058161	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		114058161	83964269	5	37678											
MED12L	116931	broad.mit.edu	37	chr3	151067902	151067902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccttctctatggagtcgGcaaagagcgtgatgaagcaa	11	8	1	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151067902G>A	ENST00000474524.1	+	15	2239	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	734						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)			TATGGAGTCGGCAAAGAGCGT	0.423																																						ENST00000474524.1																			0				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						c.(2200-2202)gGc>gAc		mediator complex subunit 12-like							198	204	202					3																	151067902		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067902G>A	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.2201G>A	3.37:g.151067902G>A	ENSP00000417235:p.Gly734Asp					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|MED12L_ENST00000491549.1_3'UTR	p.G734D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2239	+			734					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2201G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211391	0.95069	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.64991	0.06;-0.13	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.80046	-0.1546	10	0.87932	D	0	-19.7081	19.6841	0.95974	0.0:0.0:1.0:0.0	.	594;734	F8WAE6;Q86YW9	.;MD12L_HUMAN	D	734;594	ENSP00000417235:G734D;ENSP00000273432:G594D	ENSP00000273432:G594D	G	+	2	0	MED12L	152550592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.958000	0.93099	2.752000	0.94435	0.557000	0.71058	GGC		0.423	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	211	0	0	0	1	0	4	211					A	151067902	G	A	151067902	3	1	449	1	0	0	0	0	1	0	0	0	9429	1203	42	2	2259	2	MED12L	3	151067902	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	37009741	151067902	46954528	6	37679											
MED12L	116931	broad.mit.edu	37	chr3	151085530	151085530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtcgtgcagcatgtcGcacttccctctcttctagca	9	14	2	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151085530G>A	ENST00000474524.1	+	22	3357	c.3319G>A	c.(3319-3321)Gca>Aca	p.A1107T	MED12L_ENST00000273432.4_Missense_Mutation_p.A967T|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1107						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)			GCAGCATGTCGCACTTCCCTC	0.453																																						ENST00000474524.1																			0				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						c.(3319-3321)Gca>Aca		mediator complex subunit 12-like							211	182	192					3																	151085530		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151085530G>A	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.3319G>A	3.37:g.151085530G>A	ENSP00000417235:p.Ala1107Thr					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A967T	p.A1107T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		22	3357	+			1107					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3319G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	37	6.382075	0.97520	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29397	1.57;1.57	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.982;0.985	T	0.61312	-0.7088	10	0.87932	D	0	-19.0177	17.7743	0.88502	0.0:0.0:1.0:0.0	.	967;1106;1107	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	T	1107;967	ENSP00000417235:A1107T;ENSP00000273432:A967T	ENSP00000273432:A967T	A	+	1	0	MED12L	152568220	1.000000	0.71417	0.179000	0.23059	0.839000	0.47603	8.769000	0.91742	2.793000	0.96121	0.655000	0.94253	GCA		0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		60	92	0	0	0	1	0	60	92					A	151085530	G	A	151085530	3	1	449	1	0	0	0	0	1	0	0	0	9429	1087	38	1	3405	1	MED12L	3	151085530	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	17628	151085530	46936900	7	37680											
ZBBX	79740	broad.mit.edu	37	chr3	167039968	167039968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctttaagttcaataTtaagtggttctctccaaatt	5	7	4	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:167039968T>C	ENST00000392766.2	-	12	1260	c.920A>G	c.(919-921)aAt>aGt	p.N307S	ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	307						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						AAGTTCAATATTAAGTGGTTC	0.279																																						ENST00000392766.2																			0				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						c.(919-921)aAt>aGt		zinc finger, B-box domain containing							70	67	68					3																	167039968		1789	4034	5823	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167039968T>C	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.920A>G	3.37:g.167039968T>C	ENSP00000376519:p.Asn307Ser					ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S	p.N307S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			12	1260	-			307					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.920A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	8.988	0.976977	0.18812	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09723	3.12;3.12;3.11;3.11;2.95	5.76	1.93	0.25924	.	0.764210	0.10564	U	0.659922	T	0.09992	0.0245	L	0.43152	1.355	0.09310	N	1	B;B	0.26318	0.103;0.146	B;B	0.25140	0.058;0.038	T	0.32719	-0.9896	10	0.45353	T	0.12	0.1325	6.8227	0.23866	0.1407:0.0:0.3488:0.5105	.	307;307	A8MT70-2;A8MT70	.;ZBBX_HUMAN	S	307;307;307;307;278	ENSP00000376519:N307S;ENSP00000376520:N307S;ENSP00000390232:N307S;ENSP00000305065:N307S;ENSP00000376517:N278S	ENSP00000305065:N307S	N	-	2	0	ZBBX	168522662	0.003000	0.15002	0.028000	0.17463	0.651000	0.38670	1.020000	0.30027	0.086000	0.17137	-0.446000	0.05623	AAT		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		29	46	0	0	0	1	0	29	46					C	167039968	T	C	167039968	3	2	449	1	0	0	0	0	1	0	0	0	17513	1493	52	3	1522	3	ZBBX	3	167039968	Missense_Mutation	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08	15954438	167039968	30982462	8	37681											
RGS12	6002	broad.mit.edu	37	chr4	3318022	3318022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttcgggacaggcaccctGtgtgctcagctgcgtcatga	13	12	2	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:3318022G>T	ENST00000344733.5	+	2	1029	c.125G>T	c.(124-126)tGt>tTt	p.C42F	RGS12_ENST00000382788.3_Missense_Mutation_p.C42F|RGS12_ENST00000336727.3_Missense_Mutation_p.C42F|RGS12_ENST00000543385.1_Missense_Mutation_p.C42F	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	42	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGCACCCTGTGTGCTCAGC	0.612																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(124-126)tGt>tTt		regulator of G-protein signaling 12							58	58	58					4																	3318022		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318022G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.125G>T	4.37:g.3318022G>T	ENSP00000339381:p.Cys42Phe					RGS12_ENST00000543385.1_Missense_Mutation_p.C42F|RGS12_ENST00000344733.5_Missense_Mutation_p.C42F|RGS12_ENST00000382788.3_Missense_Mutation_p.C42F	p.C42F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1029	+			42			PDZ.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.125G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195212	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.71	4.71	0.59529	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	L	0.31420	0.93	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	0.63857	-0.6542	10	0.87932	D	0	-16.5834	16.6574	0.85232	0.0:0.0:1.0:0.0	.	42;42;42	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	F	42	ENSP00000440566:C42F;ENSP00000339381:C42F;ENSP00000338509:C42F;ENSP00000372238:C42F	ENSP00000338509:C42F	C	+	2	0	RGS12	3287820	1.000000	0.71417	0.946000	0.38457	0.709000	0.40893	9.466000	0.97665	2.166000	0.68216	0.313000	0.20887	TGT		0.612	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		26	30	1	0	1.64293e-13	1	1.86495e-13	26	30					T	3318022	G	T	3318022	3	4	449	1	0	0	0	0	1	0	0	0	13295	1377	48	4	127	4	RGS12	4	3318022	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		3318022	187836254	9	37682											
USP53	54532	broad.mit.edu	37	chr4	120193028	120193028	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaataaaggccttgtagaGggtaaagtgcatggtgataa	12	3	0	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:120193028G>C	ENST00000274030.6	+	16	3192	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	USP53_ENST00000450251.1_Missense_Mutation_p.E671D	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCCTTGTAGAGGGTAAAGTGC	0.393																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2011-2013)gaG>gaC		ubiquitin specific peptidase 53							135	124	127					4																	120193028		1904	4138	6042	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120193028G>C	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2013G>C	4.37:g.120193028G>C	ENSP00000274030:p.Glu671Asp					USP53_ENST00000274030.6_Missense_Mutation_p.E671D	p.E671D			Q70EK8	UBP53_HUMAN			12	2557	+			671						Missense_Mutation	SNP	ENST00000274030.6	37	c.2013G>C	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	8.319	0.823961	0.16678	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.47869	0.83;0.83	5.47	3.7	0.42460	.	0.222652	0.37304	N	0.002144	T	0.38026	0.1025	L	0.55481	1.735	0.09310	N	0.999999	B	0.15930	0.015	B	0.14023	0.01	T	0.21484	-1.0244	10	0.32370	T	0.25	-21.4003	6.1147	0.20120	0.1701:0.1545:0.6754:0.0	.	671	Q70EK8	UBP53_HUMAN	D	671	ENSP00000274030:E671D;ENSP00000409906:E671D	ENSP00000274030:E671D	E	+	3	2	USP53	120412476	0.942000	0.31987	0.368000	0.25939	0.373000	0.29922	0.452000	0.21795	1.264000	0.44198	0.563000	0.77884	GAG		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		4	94	0	0	0	1	0	4	94					C	120193028	G	C	120193028	3	2	449	1	0	0	0	0	1	0	0	0	17081	991	35	4	2059	4	USP53	4	120193028	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	116875006	120193028	70961248	10	37683											
SPINK7	84651	broad.mit.edu	37	chr5	147693711	147693711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggtggccatcccctgcCccatcacatacctaccagtt	7	17	1	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:147693711C>T	ENST00000274565.4	+	3	197	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000514394.1_3'UTR	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	46	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCCTGCCCCATCACATA	0.463																																						ENST00000274565.4																			0				large_intestine(2)|lung(3)	5						c.(136-138)Ccc>Tcc		serine peptidase inhibitor, Kazal type 7 (putative)							239	197	212					5																	147693711		2203	4300	6503	SO:0001583	missense	84651					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147693711C>T		CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"Serine peptidase inhibitors, Kazal type"	24643	protein-coding gene	gene with protein product	"esophagus cancer related gene 2"					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.136C>T	5.37:g.147693711C>T	ENSP00000274565:p.Pro46Ser					SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S|SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA	p.P46S	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	197	+			46			Kazal-like.		Q32LY0	Missense_Mutation	SNP	ENST00000274565.4	37	c.136C>T	CCDS4289.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382535	0.82792	.	.	ENSG00000145879	ENST00000274565;ENST00000523535	T;T	0.75821	-0.97;-0.97	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (3);	0.078976	0.50627	D	0.000116	D	0.84651	0.5519	.	.	.	0.41367	D	0.987469	D	0.89917	1.0	D	0.91635	0.999	T	0.82350	-0.0501	9	0.32370	T	0.25	-12.3782	15.7153	0.77663	0.0:1.0:0.0:0.0	.	46	P58062	ISK7_HUMAN	S	46;20	ENSP00000274565:P46S;ENSP00000427887:P20S	ENSP00000274565:P46S	P	+	1	0	SPINK7	147673904	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.463000	0.53050	2.861000	0.98227	0.655000	0.94253	CCC		0.463	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251944.5	NM_032566		54	64	0	0	0	1	0	54	64					T	147693711	C	T	147693711	3	4	449	1	0	0	0	0	1	0	0	0	15063	623	22	2	146	2	SPINK7	5	147693711	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		147693711	33221549	11	37684											
LARP1	23367	broad.mit.edu	37	chr5	154190842	154190842	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttttcgatactacagttAtggcctggaaaagaagttcc	8	9	0	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:154190842A>G	ENST00000336314.4	+	17	2672	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	960					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)			TACTACAGTTATGGCCTGGAA	0.448																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2647-2649)tAt>tGt		La ribonucleoprotein domain family, member 1							124	117	119					5																	154190842		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154190842A>G	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.2648A>G	5.37:g.154190842A>G	ENSP00000336721:p.Tyr883Cys						p.Y883C	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2672	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	960					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2648A>G	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857025	0.91433	.	.	ENSG00000155506	ENST00000336314	T	0.35421	1.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76761	-0.2840	10	0.87932	D	0	-9.2141	16.5763	0.84648	1.0:0.0:0.0:0.0	.	960;883	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	C	883	ENSP00000336721:Y883C	ENSP00000336721:Y883C	Y	+	2	0	LARP1	154171035	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	9.262000	0.95591	2.317000	0.78254	0.459000	0.35465	TAT		0.448	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		3	62	0	0	0	1	0	3	62					G	154190842	A	G	154190842	3	3	449	1	0	0	0	0	1	0	0	0	8628	449	16	3	2714	3	LARP1	5	154190842	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	6497131	154190842	26724418	12	37685											
RREB1	6239	broad.mit.edu	37	chr6	7240815	7240815	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcaaaagagagtgatgTtggatcccatgatagcacag	11	8	1	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:7240815T>A	ENST00000349384.6	+	11	4122				RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.V1318D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						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)				GAGAGTGATGTTGGATCCCAT	0.507																																						ENST00000379938.2																			0				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						c.(3952-3954)gTt>gAt		ras responsive element binding protein 1							86	71	76					6																	7240815		2203	4300	6503	SO:0001627	intron_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7240815T>A	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.3809-5842T>A	6.37:g.7240815T>A						RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000349384.6_Intron	p.V1318D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			11	4490	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1272					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3953T>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797689	0.50208	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	T;T	0.10960	3.03;2.82	5.05	-2.22	0.06952	.	.	.	.	.	T	0.01254	0.0041	.	.	.	0.50813	D	0.999895	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.46176	-0.9210	8	0.12766	T	0.61	-1.1933	2.2832	0.04120	0.1066:0.1758:0.3282:0.3894	.	1318;1318	Q92766-3;Q92766-2	.;.	D	1318	ENSP00000369270:V1318D;ENSP00000335574:V1318D	ENSP00000335574:V1318D	V	+	2	0	RREB1	7185814	1.000000	0.71417	0.976000	0.42696	0.999000	0.98932	0.631000	0.24568	-0.518000	0.06452	0.528000	0.53228	GTT		0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			25	22	0	0	0	1	0	25	22					A	7240815	T	A	7240815	1	1	449	0	1	0	0	0	0	0	0	0	13679	1725	60	5		5	RREB1	6	7240815	Intron	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08		7240815	163874252	13	37686											
EPB41L2	2037	broad.mit.edu	37	chr6	131215489	131215489	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttcctaaaattacctgtaGaaagtatgatgctccacgca	6	9	0	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:131215489G>C	ENST00000337057.3	-	10	1663	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	494	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTACCTGTAGAAAGTATGAT	0.493																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1480-1482)ttC>ttG		erythrocyte membrane protein band 4.1-like 2							143	141	141					6																	131215489		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131215489G>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1482C>G	6.37:g.131215489G>C	ENSP00000338481:p.Phe494Leu					EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L	p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	10	1663	-	Breast(56;0.0639)		494			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1482C>G	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599084	0.87055	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.39	4.5	0.54988	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92289	0.7554	M	0.79693	2.465	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	0.85130	0.997;0.993;0.997;0.997;0.993	D	0.93055	0.6469	10	0.87932	D	0	.	10.4557	0.44548	0.1615:0.0:0.8385:0.0	.	494;494;494;494;494	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	L	494	ENSP00000434308:F494L;ENSP00000434576:F494L;ENSP00000402041:F494L;ENSP00000338481:F494L;ENSP00000376222:F494L;ENSP00000357110:F494L;ENSP00000436348:F494L;ENSP00000432803:F494L;ENSP00000431988:F494L;ENSP00000431647:F494L;ENSP00000436641:F494L	ENSP00000338481:F494L	F	-	3	2	EPB41L2	131257182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.569000	0.53827	1.205000	0.43262	0.655000	0.94253	TTC		0.493	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			4	160	0	0	0	1	0	4	160					C	131215489	G	C	131215489	3	2	449	1	0	0	0	0	1	0	0	0	5153	933	33	4	1575	4	EPB41L2	6	131215489	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	123974674	131215489	39899578	14	37687											
NUPL2	11097	broad.mit.edu	37	chr7	23236324	23236324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccaacgtttaataaAtcaatggaggaacagggtaa	9	6	2	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:23236324A>G	ENST00000258742.5	+	5	807	c.548A>G	c.(547-549)aAt>aGt	p.N183S		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	183					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 export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGTTTAATAAATCAATGGAGG	0.323																																						ENST00000258742.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)aAt>aGt		nucleoporin like 2							84	86	86					7																	23236324		2203	4298	6501	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23236324A>G	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.548A>G	7.37:g.23236324A>G	ENSP00000258742:p.Asn183Ser						p.N183S	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN			5	807	+			183					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.548A>G	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.310933	0.23821	.	.	ENSG00000136243	ENST00000258742;ENST00000413919	T;T	0.44482	0.92;0.92	5.63	-1.23	0.09465	.	0.372967	0.34156	N	0.004213	T	0.22704	0.0548	N	0.25380	0.74	0.40251	D	0.978078	B	0.15930	0.015	B	0.17722	0.019	T	0.29852	-0.9998	10	0.06757	T	0.87	-5.4405	10.6885	0.45856	0.567:0.0:0.433:0.0	.	183	O15504	NUPL2_HUMAN	S	183	ENSP00000258742:N183S;ENSP00000401475:N183S	ENSP00000258742:N183S	N	+	2	0	NUPL2	23202849	0.169000	0.23002	0.847000	0.33407	0.965000	0.64279	0.545000	0.23268	-0.452000	0.07087	0.482000	0.46254	AAT		0.323	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		22	31	0	0	0	1	0	22	31					G	23236324	A	G	23236324	3	3	449	1	0	0	0	0	1	0	0	0	10775	101	4	3	566	3	NUPL2	7	23236324	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		23236324	135902339	15	37688											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	199	0	0	0	1	0	5	199					G	72398976	A	G	72398976	3	3	449	1	0	0	0	0	1	0	0	0	12239	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	49162652	72398976	86739687	16	37689											
CACNA2D1	781	broad.mit.edu	37	chr7	81591323	81591323	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagggaggccgtgaagtcAtcatcctccatctcaacttg	10	12	3	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:81591323A>T	ENST00000356253.5	-	36	3144	c.2889T>A	c.(2887-2889)gaT>gaA	p.D963E	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D951E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCGTGAAGTCATCATCCTCCA	0.483																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2851-2853)gaT>gaA		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						117	110	112					7																	81591323		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591323A>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2889T>A	7.37:g.81591323A>T	ENSP00000348589:p.Asp963Glu					CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963E	p.D951E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3191	-			963					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2853T>A		.	.	.	.	.	.	.	.	.	.	A	1.911	-0.450745	0.04572	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.65732	-0.17;-0.17;-0.17	5.19	-10.4	0.00318	.	0.388795	0.30859	N	0.008735	T	0.23054	0.0557	N	0.11364	0.135	0.21020	N	0.999802	B;B	0.12013	0.005;0.002	B;B	0.18263	0.021;0.008	T	0.47861	-0.9084	10	0.02654	T	1	-4.9601	3.2279	0.06739	0.1911:0.3897:0.2651:0.1542	.	163;951	B7Z658;P54289-2	.;.	E	951;970;963;163	ENSP00000349320:D951E;ENSP00000348589:D963E;ENSP00000443124:D163E	ENSP00000284088:D970E	D	-	3	2	CACNA2D1	81429259	0.001000	0.12720	0.031000	0.17742	0.926000	0.56050	-1.877000	0.01631	-3.533000	0.00145	0.529000	0.55759	GAT		0.483	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				22	48	0	0	0	1	0	22	48					T	81591323	A	T	81591323	3	4	449	1	0	0	0	0	1	0	0	0	2548	214	8	5	438	5	CACNA2D1	7	81591323	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	9192347	81591323	77547340	17	37690											
ARPC1B	10095	broad.mit.edu	37	chr7	98984335	98984335	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catctgccccaacaaccatgAggtgcatatctatgaaaaga	7	11	2	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:98984335A>T	ENST00000451682.1	+	5	401	c.92A>T	c.(91-93)gAg>gTg	p.E31V	ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V|ARPC1A_ENST00000432884.2_Nonstop_Mutation_p.*346C|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	31					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACAACCATGAGGTGCATATC	0.567																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(1036-1038)tgA>tgT		actin related protein 2/3 complex, subunit 1A, 41kDa							194	165	175					7																	98984335		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98984335A>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.92A>T	7.37:g.98984335A>T	ENSP00000389631:p.Glu31Val					ARPC1B_ENST00000451682.1_Missense_Mutation_p.E31V|ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V|ARPC1B_ENST00000474880.1_3'UTR	p.*346C			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		13	1499	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		0					Q9BU00	Nonstop_Mutation	SNP	ENST00000451682.1	37	c.1038A>T	CCDS5661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.13|14.13	2.442412|2.442412	0.43326|0.43326	.|.	.|.	ENSG00000130429|ENSG00000241685	ENST00000443222;ENST00000414376;ENST00000252725;ENST00000455009;ENST00000418347;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682|ENST00000432884	T;T;T;T;T;T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.	5.17|5.17	4.02|4.02	0.46733|0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.052206|.	0.85682|.	D|.	0.000000|.	T|.	0.64875|.	0.2638|.	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P;P|.	0.49358|.	0.923;0.923|.	P;P|.	0.58077|.	0.832;0.832|.	T|.	0.62882|.	-0.6760|.	10|.	0.38643|.	T|.	0.18|.	-57.5756|-57.5756	11.006|11.006	0.47635|0.47635	0.9262:0.0:0.0738:0.0|0.9262:0.0:0.0738:0.0	.|.	31;31|.	A4D275;O15143|.	.;ARC1B_HUMAN|.	V|C	31|346	ENSP00000413173:E31V;ENSP00000398620:E31V;ENSP00000252725:E31V;ENSP00000410238:E31V;ENSP00000413067:E31V;ENSP00000403324:E31V;ENSP00000398110:E31V;ENSP00000403211:E31V;ENSP00000388802:E31V;ENSP00000389631:E31V|.	ENSP00000252725:E31V|.	E|X	+|+	2|3	0|0	ARPC1B|ARPC1A	98822271|98822271	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.569000|0.569000	0.35902|0.35902	9.339000|9.339000	0.96797|0.96797	0.923000|0.923000	0.37045|0.37045	0.459000|0.459000	0.35465|0.35465	GAG|TGA		0.567	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		36	142	0	0	0	1	0	36	142					T	98984335	A	T	98984335	3	4	449	1	0	0	0	0	1	0	0	0	970	304	11	5	98	5	ARPC1B	7	98984335	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	17393012	98984335	60154328	18	37691											
RAB19	401409	broad.mit.edu	37	chr7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccaaggagctgatcGcgcgcaacagcctgcaccta	11	14	1	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:140125837G>A	ENST00000356407.3	+	3	609	c.541G>A	c.(541-543)Gcg>Acg	p.A181T	RAB19_ENST00000537763.1_Missense_Mutation_p.A181T|RAB19_ENST00000275874.5_Missense_Mutation_p.A228T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(682-684)Gcg>Acg		RAB19, member RAS oncogene family							92	87	89					7																	140125837		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140125837G>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.541G>A	7.37:g.140125837G>A	ENSP00000348778:p.Ala181Thr					RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T	p.A228T			A4D1S5	RAB19_HUMAN			5	880	+	Melanoma(164;0.0142)		181					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.682G>A	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187723	0.78789	.	.	ENSG00000146955	ENST00000275874;ENST00000537763;ENST00000356407	T;T;T	0.79940	-1.32;-1.32;-1.32	5.69	4.81	0.61882	.	0.146563	0.64402	N	0.000009	T	0.66446	0.2790	N	0.20807	0.61	0.58432	D	0.999995	B	0.31859	0.343	B	0.26517	0.07	T	0.63216	-0.6687	9	.	.	.	.	14.4965	0.67691	0.0701:0.0:0.9299:0.0	.	181	A4D1S5	RAB19_HUMAN	T	228;181;181	ENSP00000275874:A228T;ENSP00000440167:A181T;ENSP00000348778:A181T	.	A	+	1	0	RAB19	139772306	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.213000	0.77950	1.415000	0.47037	0.561000	0.74099	GCG		0.572	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			24	103	0	0	0	1	0	24	103					A	140125837	G	A	140125837	3	1	449	1	0	0	0	0	1	0	0	0	12904	1087	38	1	551	1	RAB19	7	140125837	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	41141502	140125837	19012826	19	37692											
HR	55806	broad.mit.edu	37	chr8	21986639	21986639	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgttctctggggccgtcttCtcccaggttggggtgccctt	13	14	3	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:21986639C>A	ENST00000381418.4	-	2	1525	c.45G>T	c.(43-45)gaG>gaT	p.E15D	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Missense_Mutation_p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	15					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCCGTCTTCTCCCAGGTTG	0.657																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(43-45)gaG>gaT		hair growth associated							90	94	93					8																	21986639		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986639C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.45G>T	8.37:g.21986639C>A	ENSP00000370826:p.Glu15Asp					HR_ENST00000312841.8_Missense_Mutation_p.E15D	p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1525	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	15					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.45G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339019	0.60963	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.75260	-0.91;-0.92	4.8	3.9	0.45041	.	0.150937	0.30742	N	0.008965	T	0.61751	0.2372	L	0.34521	1.04	0.28424	N	0.917588	D;P;P	0.55385	0.971;0.948;0.612	B;B;B	0.42030	0.373;0.373;0.138	T	0.63906	-0.6531	10	0.87932	D	0	-15.4411	9.1864	0.37174	0.0:0.8983:0.0:0.1017	.	15;15;15	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	D	15	ENSP00000370826:E15D;ENSP00000326765:E15D	ENSP00000326765:E15D	E	-	3	2	HR	22042584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.627000	0.37050	2.492000	0.84095	0.561000	0.74099	GAG		0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			4	78	1	0	0.150653	1	0.154328	4	78					A	21986639	C	A	21986639	3	1	449	1	0	0	0	0	1	0	0	0	7347	912	32	4	3596	4	HR	8	21986639	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		21986639	124377383	20	37693											
MAL2	114569	broad.mit.edu	37	chr8	120233832	120233832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttttctctttcagctgttCgggggtcttgtctggatttt	10	8	4	0	rs376851988		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:120233832C>T	ENST00000276681.6	+	3	240	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	46	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCAGCTGTTCGGGGGTCTTG	0.428																																						ENST00000276681.6																			0											c.(136-138)ttC>ttT		mal, T-cell differentiation protein 2 (gene/pseudogene)		C		0,3806		0,0,1903	256	252	253		139	-5.8	0.1	8		253	2,8226		0,2,4112	no	coding-synonymous	MAL2	NM_052886.2		0,2,6015	TT,TC,CC		0.0243,0.0,0.0166		46/177	120233832	2,12032	1903	4114	6017	SO:0001819	synonymous_variant	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233832C>T	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"MAL proteolipid protein 2"	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.138C>T	8.37:g.120233832C>T						MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	p.F46F	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	240	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		46			MARVEL.		B2R520|Q6ZMD9	Silent	SNP	ENST00000276681.6	37	c.138C>T																																																																																					0.428	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		48	308	0	0	0	1	0	48	308					T	120233832	C	T	120233832	2	4	449	1	0	0	0	0	0	0	0	1	9200	883	31	1		1	MAL2	8	120233832	Silent	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	98247193	120233832	26130190	21	37694											
LRRC14	9684	broad.mit.edu	37	chr8	145746678	145746678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaccccttccctgtggActgctatgagggcttgccct	12	14	0	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:145746678A>G	ENST00000292524.1	+	4	1444	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	433										endometrium(1)|lung(3)|prostate(1)	5	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)			TTCCCTGTGGACTGCTATGAG	0.627																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(1297-1299)gAc>gGc		leucine rich repeat containing 14							57	55	56					8																	145746678		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145746678A>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1298A>G	8.37:g.145746678A>G	ENSP00000292524:p.Asp433Gly					LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	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)		4	1444	+	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)		433					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1298A>G	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709476	0.48517	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.08807	3.05;3.05	4.96	4.96	0.65561	.	0.053968	0.64402	D	0.000001	T	0.27765	0.0683	M	0.73962	2.25	0.48975	D	0.99973	D	0.89917	1.0	D	0.79784	0.993	T	0.01378	-1.1370	10	0.87932	D	0	.	12.6832	0.56934	1.0:0.0:0.0:0.0	.	433	Q15048	LRC14_HUMAN	G	433	ENSP00000434768:D433G;ENSP00000292524:D433G	ENSP00000292524:D433G	D	+	2	0	LRRC14	145717486	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	5.479000	0.66813	2.097000	0.63578	0.529000	0.55759	GAC		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		26	45	0	0	0	1	0	26	45					G	145746678	A	G	145746678	3	3	449	1	0	0	0	0	1	0	0	0	8968	275	10	3	1308	3	LRRC14	8	145746678	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	25512846	145746678	617344	22	37695											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18657637	18657637	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgttgactcctgcagAttcgtaactcgggctccgct	9	13	0	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:18657637A>G	ENST00000380548.4	+	8	1174	c.835A>G	c.(835-837)Att>Gtt	p.I279V	ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279V|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279V|ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	279						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)		ACTCCTGCAGATTCGTAACTC	0.483																																						ENST00000380548.4																			0				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						c.e8-1		ADAMTS-like 1							94	78	83					9																	18657637		2203	4300	6503	SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18657637A>G	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.835-1A>G	9.37:g.18657637A>G						ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279_splice|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279_splice|ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279_splice	p.I279_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	8	1174	+			279					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	SNP	ENST00000380548.4	37	c.834_splice	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	0.222	-1.027583	0.02045	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.60171	0.21;1.01;1.01;1.01	5.71	3.36	0.38483	.	.	.	.	.	T	0.23492	0.0568	N	0.01817	-0.705	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.0;0.005	T	0.20773	-1.0265	9	0.02654	T	1	.	7.5005	0.27516	0.691:0.0:0.309:0.0	.	279;279	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	V	279	ENSP00000369921:I279V;ENSP00000327887:I279V;ENSP00000369940:I279V;ENSP00000276935:I279V	ENSP00000276935:I279V	I	+	1	0	ADAMTSL1	18647637	1.000000	0.71417	0.994000	0.49952	0.385000	0.30292	1.176000	0.31957	0.985000	0.38656	0.533000	0.62120	ATT		0.483	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Missense_Mutation	21	21	0	0	0	1	0	21	21					G	18657637	A	G	18657637	5	3	449	1	0	0	0	0	0	0	1	0	274	347	12	3	865	3	ADAMTSL1	9	18657637	Splice_Site	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		18657637	122555794	23	37696											
ABCA2	20	broad.mit.edu	37	chr9	139910252	139910252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatggccacggacagcttgCgcttcatgccacccgacaat	10	15	1	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:139910252C>A	ENST00000371605.3	-	22	3533	c.3386G>T	c.(3385-3387)cGc>cTc	p.R1129L	ABCA2_ENST00000265662.5_Missense_Mutation_p.R1130L|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1129	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		GGACAGCTTGCGCTTCATGCC	0.672																																						ENST00000265662.5																			0				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						c.(3388-3390)cGc>cTc		ATP-binding cassette, sub-family A (ABC1), member 2							40	46	44					9																	139910252		2184	4285	6469	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910252C>A	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.3386G>T	9.37:g.139910252C>A	ENSP00000360666:p.Arg1129Leu					ABCA2_ENST00000371605.3_Missense_Mutation_p.R1129L|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L	p.R1130L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3536	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1129			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3389G>T		.	.	.	.	.	.	.	.	.	.	C	18.55	3.648286	0.67358	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.99851	-7.17;-7.17;-7.17	4.2	4.2	0.49525	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	U	0.000000	D	0.99900	0.9952	H	0.95780	3.72	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95927	0.8935	10	0.87932	D	0	.	16.5127	0.84290	0.0:1.0:0.0:0.0	.	1129;1160	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	1130;1129;1160;1130	ENSP00000265662:R1130L;ENSP00000360666:R1129L;ENSP00000344155:R1130L	ENSP00000265662:R1130L	R	-	2	0	ABCA2	139030073	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	7.632000	0.83247	1.880000	0.54463	0.313000	0.20887	CGC		0.672	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		30	24	1	0	1.30897e-18	1	1.52713e-18	30	24					A	139910252	C	A	139910252	3	1	449	1	0	0	0	0	1	0	0	0	32	768	27	4	4029	4	ABCA2	9	139910252	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	121252615	139910252	1303179	24	37697											
STOX1	219736	broad.mit.edu	37	chr10	70645061	70645061	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggtttgtctcaccgAggaagcacaatatccaaagg	10	10	1	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr10:70645061A>G	ENST00000298596.6	+	3	1592	c.1509A>G	c.(1507-1509)cgA>cgG	p.R503R	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Silent_p.R503R|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	503						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGTCTCACCGAGGAAGCACAA	0.448																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1507-1509)cgA>cgG		storkhead box 1							54	51	52					10																	70645061		1865	4092	5957	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645061A>G	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1509A>G	10.37:g.70645061A>G						STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399169.4_Silent_p.R503R	p.R503R	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1592	+			503					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.1509A>G	CCDS41535.1																																																																																				0.448	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		33	47	0	0	0	1	0	33	47					G	70645061	A	G	70645061	2	3	449	1	0	0	0	0	0	0	0	1	15318	291	11	3		3	STOX1	10	70645061	Silent	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		70645061	64889686	25	37698											
KDM5A	5927	broad.mit.edu	37	chr12	442740	442740	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggattcaaataactcgggGgccagctctctcatcacctc	9	13	4	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr12:442740G>C	ENST00000399788.2	-	12	1928	c.1566C>G	c.(1564-1566)gcC>gcG	p.A522A	KDM5A_ENST00000382815.4_Silent_p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	522	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						ATAACTCGGGGGCCAGCTCTC	0.502			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				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						c.(1564-1566)gcC>gcG		lysine (K)-specific demethylase 5A							128	133	131					12																	442740		2015	4188	6203	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442740G>C		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.1566C>G	12.37:g.442740G>C						KDM5A_ENST00000382815.4_Silent_p.A522A	p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			12	1928	-			522			JmjC.		A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.1566C>G	CCDS41736.1																																																																																				0.502	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		7	97	0	0	0	1	0	7	97					C	442740	G	C	442740	2	2	449	1	0	0	0	0	0	0	0	1	8133	1219	43	4		4	KDM5A	12	442740	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		442740	133409155	26	37699											
TP53	7157	broad.mit.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	10	11	1	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	AGAGCCAACCTAGGAGATAAC	0.522		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(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						c.e7-2	Other conserved DNA damage response genes	tumor protein p53							88	74	79					17																	7577610		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577610T>C	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.673-2A>G	17.37:g.7577610T>C		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)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	44	10	0	0	0	1	0	44	10					C	7577610	T	C	7577610	5	2	449	1	0	0	0	0	0	0	1	0	16378	1536	53	3	619	3	TP53	17	7577610	Splice_Site	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08		7577610	73617600	27	37700											
MYH13	8735	broad.mit.edu	37	chr17	10204939	10204939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttgacctgggactcagCgatgtccgccctctccgcgg	12	15	2	1	rs371179959		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:10204939C>T	ENST00000418404.3	-	39	5912	c.5749G>A	c.(5749-5751)Gct>Act	p.A1917T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1917					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						TGGGACTCAGCGATGTCCGCC	0.602																																						ENST00000418404.3																			0				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						c.(5749-5751)Gct>Act		myosin, heavy chain 13, skeletal muscle		C	THR/ALA	0,4406		0,0,2203	92	98	96		5749	3.8	0.2	17		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH13	NM_003802.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1917/1939	10204939	1,13005	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10204939C>T	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.5749G>A	17.37:g.10204939C>T	ENSP00000404570:p.Ala1917Thr					MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T|MYH13_ENST00000570743.1_Missense_Mutation_p.A1917T	p.A1917T			Q9UKX3	MYH13_HUMAN			39	5912	-			1917					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5749G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583394	0.65992	0.0	1.16E-4	ENSG00000006788	ENST00000252172	D	0.81499	-1.5	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.93344	0.7878	H	0.98027	4.13	0.48236	D	0.999615	D	0.76494	0.999	D	0.75484	0.986	D	0.96037	0.9021	9	0.87932	D	0	.	16.1271	0.81402	0.0:1.0:0.0:0.0	.	1917	Q9UKX3	MYH13_HUMAN	T	1917	ENSP00000252172:A1917T	ENSP00000252172:A1917T	A	-	1	0	MYH13	10145664	1.000000	0.71417	0.167000	0.22817	0.091000	0.18340	7.564000	0.82326	2.097000	0.63578	0.484000	0.47621	GCT		0.602	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		4	108	0	0	0	1	0	4	108					T	10204939	C	T	10204939	3	4	449	1	0	0	0	0	1	0	0	0	10032	768	27	1	75	1	MYH13	17	10204939	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	2627329	10204939	70990271	28	37701											
KRT31	3881	broad.mit.edu	37	chr17	39551856	39551856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcggtctccaagctggCagcgcagggtattgacctcc	14	12	1	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:39551856C>A	ENST00000251645.2	-	4	660	c.608G>T	c.(607-609)tGc>tTc	p.C203F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	203	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAAGCTGGCAGCGCAGGGT	0.517																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(607-609)tGc>tTc		keratin 31							70	64	66					17																	39551856		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551856C>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.608G>T	17.37:g.39551856C>A	ENSP00000251645:p.Cys203Phe						p.C203F	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	660	-		Breast(137;0.000496)	203			Coil 1B.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.608G>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	17.61	3.432979	0.62844	.	.	ENSG00000094796	ENST00000251645	T	0.77098	-1.07	5.1	3.99	0.46301	Filament (1);	0.255716	0.35436	N	0.003205	D	0.82318	0.5011	M	0.86953	2.85	0.36320	D	0.858184	P	0.38788	0.647	P	0.46419	0.516	D	0.85116	0.0966	10	0.66056	D	0.02	.	6.824	0.23872	0.0:0.7183:0.1659:0.1158	.	203	Q15323	K1H1_HUMAN	F	203	ENSP00000251645:C203F	ENSP00000251645:C203F	C	-	2	0	KRT31	36805382	0.003000	0.15002	0.970000	0.41538	0.987000	0.75469	1.154000	0.31688	1.014000	0.39417	0.563000	0.77884	TGC		0.517	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		20	26	1	0	8.34094e-07	1	8.98255e-07	20	26					A	39551856	C	A	39551856	3	1	449	1	0	0	0	0	1	0	0	0	8467	710	25	4	658	4	KRT31	17	39551856	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	29346917	39551856	41643354	29	37702											
STAT5B	6777	broad.mit.edu	37	chr17	40354366	40354366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgccacctacttctgtggGtacatgttatagtgagcctg	10	9	1	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:40354366G>A	ENST00000293328.3	-	18	2397	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	743					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|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)|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)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|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 cellular component movement (GO:0051272)|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 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 natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|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)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTCTGTGGGTACATGTTAT	0.632																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2227-2229)taC>taT		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						47	43	44					17																	40354366		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40354366G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2229C>T	17.37:g.40354366G>A							p.Y743Y	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	18	2397	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	743					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.2229C>T	CCDS11423.1																																																																																				0.632	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		9	24	0	0	0	1	0	9	24					A	40354366	G	A	40354366	2	1	449	1	0	0	0	0	0	0	0	1	15268	1256	44	2		2	STAT5B	17	40354366	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	802510	40354366	40840844	30	37703											
MUC16	94025	broad.mit.edu	37	chr19	9047644	9047644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggaaaagttgcactgatGtctctcccagagctagtgac	11	9	1	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:9047644G>T	ENST00000397910.4	-	5	34190	c.33987C>A	c.(33985-33987)gaC>gaA	p.D11329E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11331	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						TTGCACTGATGTCTCTCCCAG	0.507																																						ENST00000397910.4																			0				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						c.(33985-33987)gaC>gaA		mucin 16, cell surface associated							162	152	155					19																	9047644		2074	4207	6281	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047644G>T	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.33987C>A	19.37:g.9047644G>T	ENSP00000381008:p.Asp11329Glu						p.D11329E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34190	-			11331			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33987C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.862	0.160257	0.09287	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	2.89	-5.79	0.02354	.	.	.	.	.	T	0.01905	0.0060	L	0.27053	0.805	.	.	.	B	0.24576	0.106	B	0.23574	0.047	T	0.44452	-0.9327	8	0.87932	D	0	.	1.753	0.02976	0.2334:0.1537:0.413:0.1999	.	11329	B5ME49	.	E	11329	ENSP00000381008:D11329E	ENSP00000381008:D11329E	D	-	3	2	MUC16	8908644	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-9.273000	0.00012	-2.065000	0.00887	-0.342000	0.07992	GAC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	131	1	0	4.7546e-09	1	5.25509e-09	15	131					T	9047644	G	T	9047644	3	4	449	1	0	0	0	0	1	0	0	0	9973	1368	48	4	9856	4	MUC16	19	9047644	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		9047644	50081339	31	37704											
PRX	57716	broad.mit.edu	37	chr19	40901999	40901999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttgcatttccggcagccGaatctctgacactttcggca	8	14	1	1	rs372473354		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:40901999G>A	ENST00000324001.7	-	7	2530	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	754	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGGCAGCCGAATCTCTGAC	0.597																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(2260-2262)Cgg>Tgg		periaxin		G	,TRP/ARG	1,4405		0,1,2202	84	89	87		,2260	0	0.2	19		87	2,8598		0,2,4298	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,probably-damaging	,754/1462	40901999	3,13003	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901999G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2260C>T	19.37:g.40901999G>A	ENSP00000326018:p.Arg754Trp					PRX_ENST00000291825.7_3'UTR	p.R754W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2530	-			754			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2260C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340831	0.41498	2.27E-4	2.33E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01099	5.34	3.9	-0.0079	0.14007	.	0.609227	0.13680	N	0.370270	T	0.02688	0.0081	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.46871	-0.9160	10	0.52906	T	0.07	-1.3519	2.6516	0.05001	0.0968:0.1489:0.2975:0.4568	.	754	Q9BXM0	PRAX_HUMAN	W	754	ENSP00000326018:R754W	ENSP00000326018:R754W	R	-	1	2	PRX	45593839	.	.	0.150000	0.22450	0.613000	0.37349	.	.	0.375000	0.24679	0.655000	0.94253	CGG		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		53	96	0	0	0	1	0	53	96					A	40901999	G	A	40901999	3	1	449	1	0	0	0	0	1	0	0	0	12642	1057	37	1	2129	1	PRX	19	40901999	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	31854355	40901999	18226984	32	37705											
TSKS	60385	broad.mit.edu	37	chr19	50243411	50243411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggcctctgccctgacGtgtttggctaaggcctggcg	14	13	2	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:50243411G>A	ENST00000246801.3	-	10	1609	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	TSKS_ENST00000358830.3_Silent_p.H309H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	509					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)		CTGCCCTGACGTGTTTGGCTA	0.647																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1525-1527)caC>caT		testis-specific serine kinase substrate							50	53	52					19																	50243411		2203	4300	6503	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50243411G>A	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.1527C>T	19.37:g.50243411G>A						TSKS_ENST00000358830.3_Silent_p.H309H	p.H509H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1609	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	509					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.1527C>T	CCDS12780.1																																																																																				0.647	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		27	35	0	0	0	1	0	27	35					A	50243411	G	A	50243411	2	1	449	1	0	0	0	0	0	0	0	1	16623	1136	40	1		1	TSKS	19	50243411	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	9341412	50243411	8885572	33	37706											
BRSK1	84446	broad.mit.edu	37	chr19	55800958	55800958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccgccagattgtgtctgCgctggacttctgccacagct	10	14	2	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:55800958C>T	ENST00000309383.1	+	4	705	c.428C>T	c.(427-429)gCg>gTg	p.A143V	BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ATTGTGTCTGCGCTGGACTTC	0.622																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(427-429)gCg>gTg		BR serine/threonine kinase 1							72	53	60					19																	55800958		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55800958C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.428C>T	19.37:g.55800958C>T	ENSP00000310649:p.Ala143Val					BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	4	705	+		Renal(1328;0.245)	143			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.428C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.384254	0.82792	.	.	ENSG00000160469	ENST00000309383	T	0.38240	1.15	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068203	0.56097	D	0.000028	T	0.63141	0.2486	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.66791	-0.5834	10	0.87932	D	0	.	18.1963	0.89823	0.0:1.0:0.0:0.0	.	143;159	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	V	143	ENSP00000310649:A143V	ENSP00000310649:A143V	A	+	2	0	BRSK1	60492770	1.000000	0.71417	0.156000	0.22583	0.366000	0.29705	7.349000	0.79376	2.674000	0.91012	0.450000	0.29827	GCG		0.622	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		23	32	0	0	0	1	0	23	32					T	55800958	C	T	55800958	3	4	449	1	0	0	0	0	1	0	0	0	1523	768	27	1	442	1	BRSK1	19	55800958	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	5557547	55800958	3328025	34	37707											
FAM120C	54954	broad.mit.edu	37	chrX	54209078	54209078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcggcctggcaccgaCggccccactcggccagccgg	14	20	0	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:54209078C>T	ENST00000375180.2	-	1	610	c.554G>A	c.(553-555)cGt>cAt	p.R185H	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	185							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGCACCGACGGCCCCACTC	0.721																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(553-555)cGt>cAt		family with sequence similarity 120C							18	14	15					X																	54209078		2160	4221	6381	SO:0001583	missense	54954							g.chrX:54209078C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.554G>A	X.37:g.54209078C>T	ENSP00000364324:p.Arg185His					FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H|FAM120C_ENST00000497680.1_5'UTR	p.R185H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	610	-			185					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.554G>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.946084	0.73672	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.53423	0.62;0.62;0.62	3.38	0.399	0.16325	.	0.377447	0.24552	U	0.037560	T	0.41558	0.1164	L	0.27053	0.805	0.38211	D	0.940466	D;B;D	0.67145	0.996;0.013;0.996	P;B;P	0.57283	0.813;0.009;0.817	T	0.42050	-0.9474	10	0.72032	D	0.01	.	3.7921	0.08724	0.1653:0.5764:0.1579:0.1005	.	185;185;185	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	H	185	ENSP00000364324:R185H;ENSP00000329896:R185H;ENSP00000420718:R185H	ENSP00000329896:R185H	R	-	2	0	FAM120C	54225803	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	1.175000	0.31944	-0.149000	0.11215	0.513000	0.50165	CGT		0.721	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	9	0	0	0	1	0	5	9					T	54209078	C	T	54209078	3	4	449	1	0	0	0	0	1	0	0	0	5418	536	19	1	2822	1	FAM120C	23	54209078	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		54209078	101061482	35	37708											
ATRX	546	broad.mit.edu	37	chrX	76939883	76939883	+	Frame_Shift_Del	DEL	G	G	-													cttattttgctgcaacaactGttctaaattctcaaatacgc							TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:76939883delG	ENST00000373344.5	-	9	1079	c.865delC	c.(865-867)cagfs	p.Q289fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	289	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TGCAACAACTGTTCTAAATTC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(865-867)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						142	133	136					X																	76939883		2203	4295	6498	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939883delG	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.865delC	X.37:g.76939883delG	ENSP00000362441:p.Gln289fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	p.Q289fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1079	-			289			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.865delC	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		118	193						118	193	---	---	---	---	-	76939883	G	-	76939883	7	5	449	1	0	1	0	1	0	0	0	0	1208	1386	48	0	6721	0	ATRX	23	76939883	Frame_Shift_Del	DEL	G	TCGA-S9-A7QX-01A-11D-A34A-08	22730805	76939883	78330677	36	37709											
HCFC1	3054	broad.mit.edu	37	chrX	153222180	153222180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcacagtgcggaggatgGtgcctggctgtcccggggcc	19	11	0	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:153222180G>A	ENST00000310441.7	-	15	3497	c.2531C>T	c.(2530-2532)aCc>aTc	p.T844I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	844	Interaction with GABP2.|Interaction with ZBTB17.				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)					GCGGAGGATGGTGCCTGGCTG	0.647																																						ENST00000310441.7																			0				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						c.(2530-2532)aCc>aTc		host cell factor C1 (VP16-accessory protein)							67	75	72					X																	153222180		2132	4213	6345	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222180G>A		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.2531C>T	X.37:g.153222180G>A	ENSP00000309555:p.Thr844Ile					HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I	p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			15	3497	-	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)		844			Interaction with GABP2.|Interaction with ZBTB17.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2531C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207072	0.79127	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04551	3.96;3.96;3.6	5.5	5.5	0.81552	.	0.097446	0.64402	D	0.000001	T	0.13798	0.0334	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01988	-1.1234	10	0.87932	D	0	.	17.1119	0.86678	0.0:0.0:1.0:0.0	.	844	P51610	HCFC1_HUMAN	I	844;844;775	ENSP00000309555:T844I;ENSP00000359001:T844I;ENSP00000346174:T775I	ENSP00000309555:T844I	T	-	2	0	HCFC1	152875374	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.235000	0.95353	2.305000	0.77605	0.429000	0.28392	ACC		0.647	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		40	13	0	0	0	1	0	40	13					A	153222180	G	A	153222180	3	1	449	1	0	0	0	0	1	0	0	0	6991	1261	44	2	3624	2	HCFC1	23	153222180	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	76282297	153222180	2048380	37	37710											
AKR7A2	8574	broad.mit.edu	37	chr1	19630776	19630776	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcttgattaaaggcAtccacgacagccggctccag	11	13	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:19630776A>G	ENST00000235835.3	-	7	1044	c.1023T>C	c.(1021-1023)gaT>gaC	p.D341D	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	341					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)		GATTAAAGGCATCCACGACAG	0.597																																						ENST00000235835.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1021-1023)gaT>gaC		aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)							78	77	77					1																	19630776		2203	4300	6503	SO:0001819	synonymous_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19630776A>G	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.1023T>C	1.37:g.19630776A>G							p.D341D	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN		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)	7	1044	-		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)	341					O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	c.1023T>C	CCDS194.1																																																																																				0.597	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		4	53	0	0	0	1	0	4	53					G	19630776	A	G	19630776	2	3	450	1	0	0	0	0	0	0	0	1	475	214	8	3		3	AKR7A2	1	19630776	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		19630776	229619845	1	37711											
HSPG2	3339	broad.mit.edu	37	chr1	22150181	22150181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgaccagctcctcacCgtcgacttggatggaacctc	10	16	1	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:22150181C>T	ENST00000374695.3	-	96	13010	c.12931G>A	c.(12931-12933)Ggt>Agt	p.G4311S	HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR|LDLRAD2_ENST00000543870.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4311	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	AGCTCCTCACCGTCGACTTGG	0.647																																						ENST00000374695.3																			0				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						c.(12931-12933)Ggt>Agt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						84	82	83					1																	22150181		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22150181C>T	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.12931G>A	1.37:g.22150181C>T	ENSP00000363827:p.Gly4311Ser					LDLRAD2_ENST00000344642.2_3'UTR|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000543870.1_Intron	p.G4311S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		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)	96	13010	-		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)	4311			Laminin G-like 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12931G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291977	0.80914	.	.	ENSG00000142798	ENST00000374695	T	0.73047	-0.71	5.03	3.14	0.36123	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.36703	U	0.002447	T	0.76212	0.3956	L	0.52573	1.65	0.41623	D	0.988971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.73279	-0.4033	10	0.48119	T	0.1	.	7.1126	0.25399	0.0:0.7339:0.1724:0.0937	.	2251;4311	Q59EG0;P98160	.;PGBM_HUMAN	S	4311	ENSP00000363827:G4311S	ENSP00000363827:G4311S	G	-	1	0	HSPG2	22022768	0.985000	0.35326	0.203000	0.23512	0.738000	0.42128	2.743000	0.47442	0.507000	0.28148	0.655000	0.94253	GGT		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	36	0	0	0	1	0	4	36					T	22150181	C	T	22150181	3	4	450	1	0	0	0	0	1	0	0	0	7430	652	23	1	252	1	HSPG2	1	22150181	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	2519405	22150181	227100440	2	37712											
IQCC	55721	broad.mit.edu	37	chr1	32671760	32671760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctccataccaggcctgCgtccggggcttcttggtccg	12	15	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:32671760C>T	ENST00000291358.6	+	2	69	c.48C>T	c.(46-48)tgC>tgT	p.C16C	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Silent_p.C96C|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	16	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGCCTGCGTCCGGGGCT	0.602																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(286-288)tgC>tgT		IQ motif containing C							79	80	80					1																	32671760		2203	4300	6503	SO:0001819	synonymous_variant	55721							g.chr1:32671760C>T	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.48C>T	1.37:g.32671760C>T						RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Silent_p.C16C|RP4-622L5.7_ENST00000373604.4_RNA	p.C96C	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			2	335	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	16					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Silent	SNP	ENST00000291358.6	37	c.288C>T	CCDS355.1																																																																																				0.602	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		4	73	0	0	0	1	0	4	73					T	32671760	C	T	32671760	2	4	450	1	0	0	0	0	0	0	0	1	7804	776	27	1		1	IQCC	1	32671760	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	10521579	32671760	216578861	3	37713											
PTPRF	5792	broad.mit.edu	37	chr1	44035429	44035429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccacgagcaacggccGcatcaagcagctgcgttcag	11	16	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:44035429G>A	ENST00000359947.4	+	6	888	c.548G>A	c.(547-549)cGc>cAc	p.R183H	PTPRF_ENST00000372414.3_Missense_Mutation_p.R183H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R183H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R183H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	183	Ig-like C2-type 2.				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)				AGCAACGGCCGCATCAAGCAG	0.587																																						ENST00000359947.4																			0				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						c.(547-549)cGc>cAc		protein tyrosine phosphatase, receptor type, F							41	39	40					1																	44035429		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44035429G>A	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.548G>A	1.37:g.44035429G>A	ENSP00000353030:p.Arg183His					PTPRF_ENST00000438120.1_Missense_Mutation_p.R183H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R183H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R183H	p.R183H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			6	888	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	183			Ig-like C2-type 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.548G>A	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	35	5.468472	0.96274	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.82	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34828	N	0.003655	T	0.63965	0.2556	L	0.47716	1.5	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;0.995;1.0;0.996	T	0.66814	-0.5828	10	0.66056	D	0.02	.	18.2874	0.90119	0.0:0.0:1.0:0.0	.	183;183;183;183	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	H	183	ENSP00000353030:R183H;ENSP00000398822:R183H;ENSP00000361491:R183H;ENSP00000361490:R183H;ENSP00000413306:R183H	ENSP00000353030:R183H	R	+	2	0	PTPRF	43808016	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.401000	0.81631	0.561000	0.74099	CGC		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			3	26	0	0	0	1	0	3	26					A	44035429	G	A	44035429	3	1	450	1	0	0	0	0	1	0	0	0	12801	1087	38	1	562	1	PTPRF	1	44035429	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	11363669	44035429	205215192	4	37714											
ZCCHC11	23318	broad.mit.edu	37	chr1	52940852	52940852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatgaagagtcctgtccGtggtcagcaaaatctagttc	11	8	2	3	rs140552770	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:52940852G>A	ENST00000371544.3	-	13	2641	c.2379C>T	c.(2377-2379)caC>caT	p.H793H	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.H793H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	793					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCTGTCCGTGGTCAGCAA	0.368																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2377-2379)caC>caT		zinc finger, CCHC domain containing 11		G	,	2,4404	4.2+/-10.8	0,2,2201	162	158	159		2379,2379	0.3	0.9	1	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZCCHC11	NM_001009881.2,NM_015269.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	793/1646,793/1645	52940852	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940852G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2379C>T	1.37:g.52940852G>A						ZCCHC11_ENST00000257177.4_Silent_p.H793H|ZCCHC11_ENST00000371541.1_5'UTR	p.H793H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			13	2641	-			793					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.2379C>T	CCDS30716.1																																																																																				0.368	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		12	94	0	0	0	1	0	12	94					A	52940852	G	A	52940852	2	1	450	1	0	0	0	0	0	0	0	1	17577	1136	40	1		1	ZCCHC11	1	52940852	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	8905423	52940852	196309769	5	37715											
LPAR3	23566	broad.mit.edu	37	chr1	85331538	85331538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttgaaactgggcctgtgTtaaacatcaggaatacatag	9	6	1	1	rs528048334		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:85331538T>C	ENST00000440886.1	-	1	304	c.266A>G	c.(265-267)aAc>aGc	p.N89S	LPAR3_ENST00000370611.3_Missense_Mutation_p.N89S|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	89					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGGGCCTGTGTTAAACATCAG	0.448													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.0					ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(265-267)aAc>aGc		lysophosphatidic acid receptor 3							127	131	129					1																	85331538		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331538T>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.266A>G	1.37:g.85331538T>C	ENSP00000395389:p.Asn89Ser					LPAR3_ENST00000370611.3_Missense_Mutation_p.N89S|LPAR3_ENST00000491034.1_5'UTR	p.N89S			Q9UBY5	LPAR3_HUMAN			1	304	-			89					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.266A>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456729	0.63401	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.70869	-0.52;-0.52	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.221685	0.53938	D	0.000057	T	0.45915	0.1366	L	0.39566	1.225	0.47407	D	0.99941	P	0.35493	0.505	B	0.29942	0.109	T	0.50056	-0.8872	10	0.20519	T	0.43	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	89	Q9UBY5	LPAR3_HUMAN	S	89	ENSP00000395389:N89S;ENSP00000359643:N89S	ENSP00000359643:N89S	N	-	2	0	LPAR3	85104126	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.013000	0.88655	2.188000	0.69820	0.533000	0.62120	AAC		0.448	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		51	55	0	0	0	1	0	51	55					C	85331538	T	C	85331538	3	2	450	1	0	0	0	0	1	0	0	0	8906	1725	60	3	803	3	LPAR3	1	85331538	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	32390686	85331538	163919083	6	37716											
SPAG17	200162	broad.mit.edu	37	chr1	118657953	118657953	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttttcattttcccgtcGctgttggtccttaaatttaa	5	10	2	0	rs370557283		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:118657953G>A	ENST00000336338.5	-	4	492	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	143	Lys-rich.		R -> Q (in dbSNP:rs12133381).			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)		TTTTCCCGTCGCTGTTGGTCC	0.418																																						ENST00000336338.5																			0				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						c.(427-429)Cga>Tga		sperm associated antigen 17		G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	126	129	128		427	2.9	1	1		128	0,8600		0,0,4300	no	stop-gained	SPAG17	NM_206996.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		143/2224	118657953	1,13003	2202	4300	6502	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118657953G>A		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.427C>T	1.37:g.118657953G>A	ENSP00000337804:p.Arg143*						p.R143*	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	4	492	-	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)	143		R -> Q (in dbSNP:rs12133381).	Lys-rich.		Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.427C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245173	0.59103	2.27E-4	0.0	ENSG00000155761	ENST00000336338	.	.	.	5.92	2.94	0.34122	.	0.164379	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0845	0.30765	0.0763:0.0:0.3584:0.5653	.	.	.	.	X	143	.	ENSP00000337804:R143X	R	-	1	2	SPAG17	118459476	1.000000	0.71417	0.970000	0.41538	0.091000	0.18340	1.596000	0.36718	0.774000	0.33427	0.655000	0.94253	CGA		0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		6	67	0	0	0	1	0	6	67					A	118657953	G	A	118657953	4	1	450	1	0	0	0	0	0	1	0	0	14979	1095	38	1	6424	1	SPAG17	1	118657953	Nonsense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	33326415	118657953	130592668	7	37717											
FLG	2312	broad.mit.edu	37	chr1	152282999	152282999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgcagtctgtccgtGtgtggactcagactgttcat	14	9	3	1	rs202237346		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:152282999G>A	ENST00000368799.1	-	3	4398	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y	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	1455	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)			GTCTGTCCGTGTGTGGACTCA	0.572									Ichthyosis																													ENST00000368799.1																			0				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						c.(4363-4365)Cac>Tac		filaggrin		A	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	221	212	215		4363	1.7	0.1	1		215	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1455/4062	152282999	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282999G>A	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.4363C>T	1.37:g.152282999G>A	ENSP00000357789:p.His1455Tyr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1455Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4398	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1455			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4363C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.754	-0.259299	0.05791	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.03982	3.74	2.62	1.71	0.24356	.	.	.	.	.	T	0.08447	0.0210	M	0.82923	2.615	0.09310	N	1	D	0.69078	0.997	D	0.65987	0.94	T	0.11966	-1.0566	9	0.52906	T	0.07	.	5.7059	0.17909	0.1529:0.0:0.8471:0.0	.	1455	P20930	FILA_HUMAN	Y	1455	ENSP00000357789:H1455Y	ENSP00000357789:H1455Y	H	-	1	0	FLG	150549623	0.003000	0.15002	0.053000	0.19242	0.005000	0.04900	0.703000	0.25646	0.707000	0.31934	-0.221000	0.12465	CAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	228	0	0	0	1	0	7	228					A	152282999	G	A	152282999	3	1	450	1	0	0	0	0	1	0	0	0	5922	1377	48	2	7826	2	FLG	1	152282999	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	33625046	152282999	96967622	8	37718											
METTL13	51603	broad.mit.edu	37	chr1	171765758	171765758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcctgttctgtcagctGcaccctgagcaaaaacttgc	9	12	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:171765758G>A	ENST00000361735.3	+	8	2228	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Silent_p.L653L|METTL13_ENST00000367737.5_Silent_p.L498L|METTL13_ENST00000362019.3_Silent_p.L568L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	654							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCTGTCAGCTGCACCCTGAGC	0.557																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1960-1962)ctG>ctA		methyltransferase like 13							121	112	115					1																	171765758		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171765758G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1962G>A	1.37:g.171765758G>A						METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L568L|METTL13_ENST00000367737.5_Silent_p.L498L|METTL13_ENST00000458517.1_Silent_p.L653L	p.L654L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			8	2228	+			654					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.1962G>A	CCDS1299.1																																																																																				0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		36	76	0	0	0	1	0	36	76					A	171765758	G	A	171765758	2	1	450	1	0	0	0	0	0	0	0	1	9497	1306	46	2		2	METTL13	1	171765758	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	19482759	171765758	77484863	9	37719											
CCDC121	79635	broad.mit.edu	37	chr2	27850426	27850426	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaagcactgaaatttgttCtgcatatctggaggctgatt	9	6	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:27850426C>G	ENST00000324364.3	-	2	421	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	GPN1_ENST00000264718.3_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000407583.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.E243Q|GPN1_ENST00000424214.1_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	81										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GAAATTTGTTCTGCATATCTG	0.398																																						ENST00000324364.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14						c.(241-243)Gaa>Caa		coiled-coil domain containing 121							216	212	213					2																	27850426		2202	4300	6502	SO:0001583	missense	79635							g.chr2:27850426C>G	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	ENST00000324364.3:c.241G>C	2.37:g.27850426C>G	ENSP00000339087:p.Glu81Gln					CCDC121_ENST00000394775.3_Missense_Mutation_p.E243Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Intron	p.E81Q	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN			2	421	-	Acute lymphoblastic leukemia(172;0.155)		81					B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.241G>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174404	0.21704	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.28666	1.6;1.6	5.37	-7.62	0.01294	.	2.118210	0.02196	N	0.061819	T	0.12475	0.0303	N	0.11427	0.14	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.15350	-1.0440	10	0.14656	T	0.56	-15.7328	4.4642	0.11680	0.1302:0.4949:0.1207:0.2542	.	81	Q6ZUS5	CC121_HUMAN	Q	81;243	ENSP00000339087:E81Q;ENSP00000412150:E243Q	ENSP00000339087:E81Q	E	-	1	0	CCDC121	27703930	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.475000	0.06599	-0.831000	0.04256	-1.075000	0.02238	GAA		0.398	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		76	171	0	0	0	1	0	76	171					G	27850426	C	G	27850426	3	3	450	1	0	0	0	0	1	0	0	0	2757	922	32	4	599	4	CCDC121	2	27850426	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		27850426	215348947	10	37720											
UGGT1	56886	broad.mit.edu	37	chr2	128941352	128941352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaccctaacagcctttcaAatcttgatcaagtaagtgtc	7	10	3	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:128941352A>G	ENST00000259253.6	+	38	4395	c.4348A>G	c.(4348-4350)Aat>Gat	p.N1450D	UGGT1_ENST00000375990.3_Missense_Mutation_p.N1426D	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1450	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|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 lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCCTTTCAAATCTTGATCA	0.413																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4276-4278)Aat>Gat		UDP-glucose glycoprotein glucosyltransferase 1							150	142	145					2																	128941352		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128941352A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4348A>G	2.37:g.128941352A>G	ENSP00000259253:p.Asn1450Asp					UGGT1_ENST00000259253.6_Missense_Mutation_p.N1450D	p.N1426D			Q9NYU2	UGGG1_HUMAN			38	4679	+			1450			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4276A>G	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668162	0.88348	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.39056	1.1;1.1	4.66	4.66	0.58398	.	0.047471	0.85682	D	0.000000	T	0.73249	0.3563	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82034	-0.0657	9	.	.	.	.	14.5477	0.68044	1.0:0.0:0.0:0.0	.	1450	Q9NYU2	UGGG1_HUMAN	D	1426;1450	ENSP00000365158:N1426D;ENSP00000259253:N1450D	.	N	+	1	0	UGGT1	128657822	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	8.598000	0.90852	2.084000	0.62774	0.460000	0.39030	AAT		0.413	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		12	21	0	0	0	1	0	12	21					G	128941352	A	G	128941352	3	3	450	1	0	0	0	0	1	0	0	0	16938	14	1	3	4498	3	UGGT1	2	128941352	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	101090926	128941352	114258021	11	37721											
ECEL1	9427	broad.mit.edu	37	chr2	233349567	233349567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgttgtacatggagctgaCatctcgccgtaggtcgtcat	11	10	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:233349567C>T	ENST00000304546.1	-	5	1213	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	ECEL1_ENST00000409941.1_Missense_Mutation_p.V335I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	335					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGGAGCTGACATCTCGCCGT	0.612																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1003-1005)Gtc>Atc		endothelin converting enzyme-like 1							130	113	119					2																	233349567		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233349567C>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1003G>A	2.37:g.233349567C>T	ENSP00000302051:p.Val335Ile					ECEL1_ENST00000409941.1_Missense_Mutation_p.V335I	p.V335I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	5	1213	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	335					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1003G>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	C	5.264	0.234178	0.09969	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.74947	-0.89;-0.89	5.07	1.78	0.24846	Peptidase M13 (1);	0.198042	0.43919	D	0.000513	T	0.44095	0.1277	N	0.02854	-0.475	0.34638	D	0.72035	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35126	-0.9801	10	0.33940	T	0.23	-31.6071	5.0622	0.14562	0.0:0.4512:0.1483:0.4005	.	335;335	O95672-2;O95672	.;ECEL1_HUMAN	I	335	ENSP00000302051:V335I;ENSP00000386333:V335I	ENSP00000302051:V335I	V	-	1	0	ECEL1	233057811	0.996000	0.38824	0.637000	0.29366	0.152000	0.21847	2.916000	0.48813	0.662000	0.31006	-0.217000	0.12591	GTC		0.612	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		6	56	0	0	0	1	0	6	56					T	233349567	C	T	233349567	3	4	450	1	0	0	0	0	1	0	0	0	4891	478	17	2	1380	2	ECEL1	2	233349567	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	104408215	233349567	9849806	12	37722											
QRICH1	54870	broad.mit.edu	37	chr3	49083858	49083858	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagatctgtttcctacCttttgaatacacaggaaaat	7	7	1	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:49083858C>T	ENST00000395443.2	-	5	2143	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K	QRICH1_ENST00000357496.2_Splice_Site_p.K557K|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Splice_Site_p.K557K	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	557						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTTCCTACCTTTTGAATAC	0.373																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.e5+1		glutamine-rich 1							130	125	127					3																	49083858		2203	4300	6503	SO:0001630	splice_region_variant	54870							g.chr3:49083858C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1671+1G>A	3.37:g.49083858C>T						QRICH1_ENST00000357496.2_Splice_Site_p.K557_splice|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Splice_Site_p.K557_splice	p.K557_splice	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	2143	-			557					Q4G0F7|Q7L621|Q8TEA5	Splice_Site	SNP	ENST00000395443.2	37	c.1671_splice	CCDS2787.1																																																																																				0.373	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	Silent	8	98	0	0	0	1	0	8	98					T	49083858	C	T	49083858	5	4	450	1	0	0	0	0	0	0	1	0	12879	695	24	2	683	2	QRICH1	3	49083858	Splice_Site	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		49083858	148938572	13	37723											
SENP7	57337	broad.mit.edu	37	chr3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatattaaaagagaaatgCcatcatcctttcttcgtttt	5	8	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000358203.3_Missense_Mutation_p.G90D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254						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						AAGAGAAATGCCATCATCCTT	0.343																																						ENST00000394095.2																			0				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						c.(760-762)gGc>gAc		SUMO1/sentrin specific peptidase 7							107	102	104					3																	101090887		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090887C>T		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.761G>A	3.37:g.101090887C>T	ENSP00000377655:p.Gly254Asp					SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D	p.G254D	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			7	814	-			254					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.761G>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.513512	0.00153	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.32;2.32;2.28	4.35	-4.15	0.03881	.	1.171620	0.06365	N	0.712505	T	0.11067	0.0270	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45629	-0.9248	10	0.05436	T	0.98	8.4904	11.1042	0.48193	0.0:0.5083:0.0:0.4917	.	90;188;221;254	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	254;189;188;90;90;221	ENSP00000377655:G254D;ENSP00000377654:G189D;ENSP00000313624:G188D;ENSP00000377651:G90D;ENSP00000350936:G90D;ENSP00000342159:G221D	ENSP00000313624:G188D	G	-	2	0	SENP7	102573577	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-0.799000	0.04439	-1.451000	0.01035	GGC		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		11	77	0	0	0	1	0	11	77					T	101090887	C	T	101090887	3	4	450	1	0	0	0	0	1	0	0	0	14051	739	26	2	2463	2	SENP7	3	101090887	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	52007029	101090887	96931543	14	37724											
ATP10D	57205	broad.mit.edu	37	chr4	47560219	47560219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggtccgacaccctctttCcaatcaagttgtggtgtata	9	10	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:47560219C>T	ENST00000273859.3	+	12	2632	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	788					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTCTTTCCAATCAAGTT	0.433																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2362-2364)tCc>tTc		ATPase, class V, type 10D							135	125	129					4																	47560219		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47560219C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2363C>T	4.37:g.47560219C>T	ENSP00000273859:p.Ser788Phe					AC092597.3_ENST00000508081.1_RNA	p.S788F	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2632	+			788					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2363C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065717	0.55539	.	.	ENSG00000145246	ENST00000273859	D	0.83506	-1.73	4.95	4.12	0.48240	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.121266	0.56097	D	0.000028	D	0.90297	0.6965	M	0.88842	2.985	0.80722	D	1	P	0.48407	0.91	P	0.57425	0.82	D	0.91583	0.5280	10	0.72032	D	0.01	-9.2127	12.4592	0.55723	0.0:0.9194:0.0:0.0805	.	788	Q9P241	AT10D_HUMAN	F	788	ENSP00000273859:S788F	ENSP00000273859:S788F	S	+	2	0	ATP10D	47254976	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	5.922000	0.70036	1.324000	0.45282	0.561000	0.74099	TCC		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		8	90	0	0	0	1	0	8	90					T	47560219	C	T	47560219	3	4	450	1	0	0	0	0	1	0	0	0	1118	855	30	2	2405	2	ATP10D	4	47560219	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		47560219	143594057	15	37725											
LRP2BP	55805	broad.mit.edu	37	chr4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcttcctcatttgatcGtttaacaccttttccttcat	3	12	3	1	rs201973995	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:186295495G>A	ENST00000328559.7	-	4	1262	c.451C>T	c.(451-453)Cga>Tga	p.R151*	LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000362004.3_Nonsense_Mutation_p.R153*|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCATTTGATCGTTTAACACCT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0					ENST00000362004.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(457-459)Cga>Tga		LRP2 binding protein		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	180	170	173		451	4.7	0.2	4		173	0,8600		0,0,4300	yes	stop-gained	LRP2BP	NM_018409.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		151/348	186295495	2,13004	2203	4300	6503	SO:0001587	stop_gained	55805					cytoplasm	protein binding	g.chr4:186295495G>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.451C>T	4.37:g.186295495G>A	ENSP00000332681:p.Arg151*					RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*	p.R153*			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	4	1268	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	151					A6NJR7|A7E219|B3KX83|Q9NSN6	Nonsense_Mutation	SNP	ENST00000328559.7	37	c.457C>T	CCDS3840.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	50	16.899404	0.99874	4.54E-4	0.0	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404	.	.	.	5.56	4.66	0.58398	.	0.348304	0.28109	N	0.016572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.8142	13.9676	0.64218	0.0:0.0:0.6787:0.3213	.	.	.	.	X	153;151;125;151;151	.	ENSP00000332681:R151X	R	-	1	2	LRP2BP	186532489	0.081000	0.21417	0.205000	0.23548	0.678000	0.39670	2.278000	0.43426	1.304000	0.44892	0.563000	0.77884	CGA		0.388	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		5	75	0	0	0	1	0	5	75					A	186295495	G	A	186295495	4	1	450	1	0	0	0	0	0	1	0	0	8957	1153	40	1	612	1	LRP2BP	4	186295495	Nonsense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	138735276	186295495	4858781	16	37726											
ADCY2	108	broad.mit.edu	37	chr5	7520964	7520964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacaccatcgtgcttagCgtctgcctgtctgcaacacc	7	17	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:7520964C>T	ENST00000338316.4	+	3	611	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	174					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCGTGCTTAGCGTCTGCCTGT	0.582																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(520-522)agC>agT		adenylate cyclase 2 (brain)							186	122	143					5																	7520964		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520964C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.522C>T	5.37:g.7520964C>T							p.S174S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	611	+			174					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.522C>T	CCDS3872.2																																																																																				0.582	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		25	46	0	0	0	1	0	25	46					T	7520964	C	T	7520964	2	4	450	1	0	0	0	0	0	0	0	1	294	767	27	1		1	ADCY2	5	7520964	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		7520964	173394296	17	37727											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				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)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	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.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			3	46	0	0	0	1	0	3	46					T	32407029	A	T	32407029	2	4	450	1	0	0	0	0	0	0	0	1	17656	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	24886065	32407029	148508231	18	37728											
CCNB1	891	broad.mit.edu	37	chr5	68470917	68470917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctacctttgcacttccttCggagagcatctaagattgga	8	11	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:68470917C>T	ENST00000256442.5	+	6	1172	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCACTTCCTTCGGAGAGCATC	0.448																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(919-921)Cgg>Tgg		cyclin B1							108	112	111					5																	68470917		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470917C>T	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"G2/mitotic-specific cyclin B1"	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.919C>T	5.37:g.68470917C>T	ENSP00000256442:p.Arg307Trp						p.R307W	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1172	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	307					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.919C>T	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934961	0.73442	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	6.17	4.41	0.53225	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.49729	0.1574	H	0.94808	3.585	0.80722	D	1	P;P;D	0.56287	0.475;0.764;0.975	B;B;P	0.53313	0.234;0.4;0.723	T	0.57522	-0.7797	10	0.72032	D	0.01	.	7.4534	0.27252	0.1346:0.7251:0.0:0.1403	.	307;307;307	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	W	307;307;307;123	ENSP00000256442:R307W;ENSP00000423387:R307W;ENSP00000424588:R307W;ENSP00000426230:R123W	ENSP00000256442:R307W	R	+	1	2	CCNB1	68506673	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	2.537000	0.45702	0.944000	0.37579	-0.150000	0.13652	CGG		0.448	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		41	79	0	0	0	1	0	41	79					T	68470917	C	T	68470917	3	4	450	1	0	0	0	0	1	0	0	0	2911	875	31	1	941	1	CCNB1	5	68470917	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	36063888	68470917	112444343	19	37729											
PPIP5K2	23262	broad.mit.edu	37	chr5	102519070	102519070	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtctcccccaaatcaTtggctttcacatccagtatt	4	16	3	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:102519070T>C	ENST00000358359.3	+	25	3567	c.3058T>C	c.(3058-3060)Ttg>Ctg	p.L1020L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.L1020L|PPIP5K2_ENST00000321521.9_Silent_p.L1020L	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1020					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						CCCCAAATCATTGGCTTTCAC	0.453																																						ENST00000321521.9																			0				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						c.(3058-3060)Ttg>Ctg		diphosphoinositol pentakisphosphate kinase 2							112	108	109					5																	102519070		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102519070T>C	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.3058T>C	5.37:g.102519070T>C						PPIP5K2_ENST00000358359.3_Silent_p.L1020L|PPIP5K2_ENST00000414217.1_Silent_p.L1020L|PPIP5K2_ENST00000513500.1_3'UTR	p.L1020L			O43314	VIP2_HUMAN			25	3631	+			1020					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.3058T>C																																																																																					0.453	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		25	77	0	0	0	1	0	25	77					C	102519070	T	C	102519070	2	2	450	1	0	0	0	0	0	0	0	1	12333	1490	52	3		3	PPIP5K2	5	102519070	Silent	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	34048153	102519070	78396190	20	37730											
ADAMTS19	171019	broad.mit.edu	37	chr5	128994350	128994350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagggtctcttgcaagagAagatcattgtggtgtatgca	12	5	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:128994350A>G	ENST00000274487.4	+	15	2472	c.2327A>G	c.(2326-2328)gAa>gGa	p.E776G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	776	Cys-rich.					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)		CTTGCAAGAGAAGATCATTGT	0.353																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2326-2328)gAa>gGa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							175	173	173					5																	128994350		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128994350A>G	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.2327A>G	5.37:g.128994350A>G	ENSP00000274487:p.Glu776Gly					CTC-575N7.1_ENST00000503616.1_RNA	p.E776G	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	15	2472	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	776			Cys-rich.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2327A>G	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126556	0.77549	.	.	ENSG00000145808	ENST00000274487	T	0.71341	-0.56	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000003	D	0.86682	0.5991	M	0.93062	3.375	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.89992	0.4108	9	.	.	.	.	13.5855	0.61928	1.0:0.0:0.0:0.0	.	776	Q8TE59	ATS19_HUMAN	G	776	ENSP00000274487:E776G	.	E	+	2	0	ADAMTS19	129022249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	1.950000	0.56595	0.477000	0.44152	GAA		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		8	151	0	0	0	1	0	8	151					G	128994350	A	G	128994350	3	3	450	1	0	0	0	0	1	0	0	0	264	246	9	3	2385	3	ADAMTS19	5	128994350	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	26475280	128994350	51920910	21	37731											
PCDHB7	56129	broad.mit.edu	37	chr5	140552628	140552628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaattgtttcagaccagaAcatgcaaattttactgctca	6	8	2	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:140552628A>G	ENST00000231137.3	+	1	386	c.212A>G	c.(211-213)aAc>aGc	p.N71S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	71	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(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)			TCAGACCAGAACATGCAAATT	0.493																																						ENST00000231137.3																			0				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						c.(211-213)aAc>aGc									87	90	89					5																	140552628		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552628A>G	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.212A>G	5.37:g.140552628A>G	ENSP00000231137:p.Asn71Ser						p.N71S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	386	+			71			Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.212A>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.387516	0.01194	.	.	ENSG00000113212	ENST00000231137	T	0.28069	1.63	4.61	3.44	0.39384	Cadherin, N-terminal (1);	.	.	.	.	T	0.26268	0.0641	L	0.38953	1.18	0.09310	N	1	B	0.22909	0.077	B	0.33750	0.169	T	0.32534	-0.9903	9	0.52906	T	0.07	.	5.3016	0.15781	0.6813:0.1513:0.1674:0.0	.	71	Q9Y5E2	PCDB7_HUMAN	S	71	ENSP00000231137:N71S	ENSP00000231137:N71S	N	+	2	0	PCDHB7	140532812	0.000000	0.05858	0.148000	0.22405	0.105000	0.19272	-0.405000	0.07196	0.702000	0.31825	-0.290000	0.09829	AAC		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	80	0	0	0	1	0	4	80					G	140552628	A	G	140552628	3	3	450	1	0	0	0	0	1	0	0	0	11547	43	2	3	214	3	PCDHB7	5	140552628	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	11558278	140552628	40362632	22	37732											
BNIP1	662	broad.mit.edu	37	chr5	172590905	172590905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctatattgtgaaaaagcGgctctttccatttttgtgag	8	8	2	2	rs571663655		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:172590905G>A	ENST00000351486.5	+	6	699	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	BNIP1_ENST00000231668.9_Missense_Mutation_p.R266Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R189Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R232Q	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	223					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGAAAAAGCGGCTCTTTCCA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19250	0.0		0.0	False		,,,				2504	0.001					ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(796-798)cGg>cAg		BCL2/adenovirus E1B 19kDa interacting protein 1							108	106	107					5																	172590905		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590905G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.668G>A	5.37:g.172590905G>A	ENSP00000239215:p.Arg223Gln					BNIP1_ENST00000351486.5_Missense_Mutation_p.R223Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R232Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R189Q	p.R266Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	901	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	223					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.797G>A	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546478	0.96488	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;D;D	0.89552	-1.07;-1.39;-2.46;-2.53	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95313	0.8479	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.95477	0.8557	10	0.87932	D	0	.	19.7177	0.96129	0.0:0.0:1.0:0.0	.	189;232;223;266	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Q	266;223;232;189	ENSP00000231668:R266Q;ENSP00000239215:R223Q;ENSP00000239214:R232Q;ENSP00000377365:R189Q	ENSP00000231668:R266Q	R	+	2	0	BNIP1	172523511	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.476000	0.97823	2.666000	0.90696	0.555000	0.69702	CGG		0.493	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		35	85	0	0	0	1	0	35	85					A	172590905	G	A	172590905	3	1	450	1	0	0	0	0	1	0	0	0	1476	1116	39	1	823	1	BNIP1	5	172590905	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	32038277	172590905	8324355	23	37733											
HK3	3101	broad.mit.edu	37	chr5	176316702	176316702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacagcccatcatggtgCccactgtgtcgttcaccaca	8	16	3	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:176316702C>T	ENST00000292432.5	-	7	765	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	225	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCATGGTGCCCACTGTGTC	0.587																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(673-675)gGc>gAc		hexokinase 3 (white cell)							193	156	168					5																	176316702		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316702C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.674G>A	5.37:g.176316702C>T	ENSP00000292432:p.Gly225Asp						p.G225D	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	765	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	225			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.674G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202380	0.94997	.	.	ENSG00000160883	ENST00000292432	D	0.99716	-6.51	5.56	5.56	0.83823	Hexokinase, N-terminal (1);	0.000000	0.56097	D	0.000030	D	0.99806	0.9916	M	0.93328	3.405	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.97163	0.9839	10	0.87932	D	0	-25.403	19.1303	0.93402	0.0:1.0:0.0:0.0	.	225	P52790	HXK3_HUMAN	D	225	ENSP00000292432:G225D	ENSP00000292432:G225D	G	-	2	0	HK3	176249308	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.472000	0.60189	2.624000	0.88883	0.462000	0.41574	GGC		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			6	49	0	0	0	1	0	6	49					T	176316702	C	T	176316702	3	4	450	1	0	0	0	0	1	0	0	0	7192	739	26	2	2149	2	HK3	5	176316702	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	3725797	176316702	4598558	24	37734											
SLC17A2	10246	broad.mit.edu	37	chr6	25913553	25913553	+	3'UTR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttatgtcctcagaggcGggtaagggtcctctctttgg	12	9	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:25913553G>A	ENST00000265425.3	-	0	1484				SLC17A2_ENST00000360488.3_Silent_p.P427P|SLC17A2_ENST00000377850.3_Missense_Mutation_p.R477C			O00624	NPT3_HUMAN	solute carrier family 17, member 2						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)	p.P427P(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCAGAGGCGGGTAAGGGTC	0.428																																						ENST00000377850.3																			2	Substitution - coding silent(2)	p.P427P(2)	large_intestine(1)|lung(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1429-1431)Cgc>Tgc		solute carrier family 17, member 2							141	132	135					6																	25913553		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25913553G>A	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.*144C>T	6.37:g.25913553G>A						SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Silent_p.P427P	p.R477C			O00624	NPT3_HUMAN			12	1953	-			0					A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.1429C>T		.	.	.	.	.	.	.	.	.	.	G	14.06	2.423718	0.43020	.	.	ENSG00000112337	ENST00000377850	T	0.65178	-0.14	4.65	4.65	0.58169	.	0.097554	0.46442	D	0.000281	T	0.63129	0.2485	.	.	.	0.19300	N	0.999971	D	0.76494	0.999	P	0.57244	0.816	T	0.57429	-0.7813	9	0.87932	D	0	.	13.4126	0.60952	0.0:0.0:1.0:0.0	.	477	A6NK81	.	C	477	ENSP00000367081:R477C	ENSP00000367081:R477C	R	-	1	0	SLC17A2	26021532	0.950000	0.32346	0.686000	0.30086	0.001000	0.01503	2.888000	0.48594	2.890000	0.99128	0.650000	0.86243	CGC		0.428	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			9	116	0	0	0	1	0	9	116					A	25913553	G	A	25913553	1	1	450	0	1	0	0	0	0	0	0	0	14417	1103	39	1		1	SLC17A2	6	25913553	3'UTR	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		25913553	145201514	25	37735											
STK19	8859	broad.mit.edu	37	chr6	31948281	31948281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgggagctggtggcTagctgtgcctggagctggga	19	7	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:31948281T>C	ENST00000375333.2	+	6	922	c.869T>C	c.(868-870)cTa>cCa	p.L290P	C4A_ENST00000428956.2_5'Flank|C4A_ENST00000537134.1_5'Flank|C4A_ENST00000498271.1_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.L286P	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	290					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						AGCTGGTGGCTAGCTGTGCCT	0.577																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(856-858)cTa>cCa		serine/threonine kinase 19							79	69	72					6																	31948281		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31948281T>C	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.869T>C	6.37:g.31948281T>C	ENSP00000364482:p.Leu290Pro					STK19_ENST00000375333.2_Missense_Mutation_p.L290P	p.L286P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			6	1023	+			290					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.857T>C	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314801	0.81358	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.38560	1.13;1.13	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.54046	0.1834	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.60855	-0.7180	10	0.87932	D	0	-9.4782	13.8098	0.63256	0.0:0.0:0.0:1.0	.	243;286;290;243	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	P	286;290	ENSP00000364480:L286P;ENSP00000364482:L290P	ENSP00000364480:L286P	L	+	2	0	STK19	32056260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.613000	0.74192	1.915000	0.55452	0.454000	0.30748	CTA		0.577	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			3	47	0	0	0	1	0	3	47					C	31948281	T	C	31948281	3	2	450	1	0	0	0	0	1	0	0	0	15291	1522	53	3	891	3	STK19	6	31948281	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	6034728	31948281	139166786	26	37736											
DNAH8	1769	broad.mit.edu	37	chr6	38790794	38790794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctctggacagaggaccGcgatgtgaaagtgaaggtgt	15	7	1	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:38790794G>A	ENST00000359357.3	+	25	3307	c.3053G>A	c.(3052-3054)cGc>cAc	p.R1018H	SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1018					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						ACAGAGGACCGCGATGTGAAA	0.453																																						ENST00000359357.3																			0				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						c.(3052-3054)cGc>cAc		dynein, axonemal, heavy chain 8							109	112	111					6																	38790794		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790794G>A	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.3053G>A	6.37:g.38790794G>A	ENSP00000352312:p.Arg1018His					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018H	p.R1018H							25	3307	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3053G>A		.	.	.	.	.	.	.	.	.	.	G	14.87	2.664416	0.47572	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26810	1.76;1.76;1.71	5.53	5.53	0.82687	.	0.260095	0.28635	N	0.014649	T	0.28797	0.0714	L	0.59436	1.845	0.41946	D	0.99063	D	0.63880	0.993	P	0.54346	0.749	T	0.02345	-1.1173	10	0.56958	D	0.05	.	12.9808	0.58562	0.0768:0.0:0.9232:0.0	.	1018	Q96JB1	DYH8_HUMAN	H	1223;1223;1018;1018	ENSP00000333363:R1223H;ENSP00000352312:R1018H;ENSP00000402294:R1018H	ENSP00000333363:R1223H	R	+	2	0	DNAH8	38898772	1.000000	0.71417	0.843000	0.33291	0.006000	0.05464	3.491000	0.53252	2.601000	0.87937	0.467000	0.42956	CGC		0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		23	39	0	0	0	1	0	23	39					A	38790794	G	A	38790794	3	1	450	1	0	0	0	0	1	0	0	0	4607	1087	38	1	3143	1	DNAH8	6	38790794	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	6842513	38790794	132324273	27	37737											
ZNF318	24149	broad.mit.edu	37	chr6	43305390	43305390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctaggccccccaagcCacggtcaacattttctgtaa	6	16	3	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:43305390C>T	ENST00000361428.2	-	10	6423	c.6346G>A	c.(6346-6348)Ggc>Agc	p.G2116S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2116					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)			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)			CCCCCCAAGCCACGGTCAACA	0.468																																						ENST00000361428.2																			0				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						c.(6346-6348)Ggc>Agc		zinc finger protein 318							47	47	47					6																	43305390		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305390C>T	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.6346G>A	6.37:g.43305390C>T	ENSP00000354964:p.Gly2116Ser					ZNF318_ENST00000318149.3_Intron	p.G2116S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6423	-			2116					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6346G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	4.180	0.031965	0.08101	.	.	ENSG00000171467	ENST00000361428	T	0.11495	2.77	5.11	3.33	0.38152	.	0.377447	0.23199	N	0.050807	T	0.01940	0.0061	L	0.27053	0.805	0.09310	N	0.999999	P	0.42296	0.775	B	0.36464	0.225	T	0.43877	-0.9364	10	0.21540	T	0.41	-0.8564	6.9955	0.24780	0.0:0.6674:0.0:0.3326	.	2116	Q5VUA4	ZN318_HUMAN	S	2116	ENSP00000354964:G2116S	ENSP00000354964:G2116S	G	-	1	0	ZNF318	43413368	0.006000	0.16342	0.054000	0.19295	0.020000	0.10135	1.677000	0.37576	0.827000	0.34685	-0.136000	0.14681	GGC		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		5	57	0	0	0	1	0	5	57					T	43305390	C	T	43305390	3	4	450	1	0	0	0	0	1	0	0	0	17833	594	21	2	497	2	ZNF318	6	43305390	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	4514596	43305390	127809677	28	37738											
REPS1	85021	broad.mit.edu	37	chr6	139264996	139264996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacaactcacctggaaTaaatccgtttagatcaggct	6	10	3	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:139264996T>G	ENST00000450536.2	-	6	1484	c.910A>C	c.(910-912)Att>Ctt	p.I304L	REPS1_ENST00000258062.5_Missense_Mutation_p.I304L|REPS1_ENST00000409812.2_Missense_Mutation_p.I304L|REPS1_ENST00000367663.4_Missense_Mutation_p.I304L|REPS1_ENST00000415951.2_Missense_Mutation_p.I304L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	304	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCACCTGGAATAAATCCGTTT	0.328																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(910-912)Att>Ctt		RALBP1 associated Eps domain containing 1							110	104	106					6																	139264996		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139264996T>G		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.910A>C	6.37:g.139264996T>G	ENSP00000392065:p.Ile304Leu					REPS1_ENST00000415951.2_Missense_Mutation_p.I304L|REPS1_ENST00000258062.5_Missense_Mutation_p.I304L|REPS1_ENST00000409812.2_Missense_Mutation_p.I304L|REPS1_ENST00000367663.4_Missense_Mutation_p.I304L	p.I304L			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	6	1484	-			304			EH 2.		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.910A>C		.	.	.	.	.	.	.	.	.	.	T	15.75	2.927092	0.52759	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	6.01	6.01	0.97437	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.30741	0.006;0.293;0.004;0.004	P;D;P;P	0.71656	0.628;0.974;0.756;0.528	T	0.51631	-0.8681	10	0.19590	T	0.45	-17.2772	16.5285	0.84344	0.0:0.0:0.0:1.0	.	304;304;304;304	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	L	304;304;290;304;304;304;252	ENSP00000392065:I304L;ENSP00000356635:I304L;ENSP00000434251:I290L;ENSP00000386699:I304L;ENSP00000258062:I304L;ENSP00000397941:I304L	ENSP00000258062:I304L	I	-	1	0	REPS1	139306689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.307000	0.77673	0.528000	0.53228	ATT		0.328	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			21	47	0	0	0	1	0	21	47					G	139264996	T	G	139264996	3	3	450	1	0	0	0	0	1	0	0	0	13228	1406	49	5	1540	5	REPS1	6	139264996	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	95959606	139264996	31850071	29	37739											
GLI3	2737	broad.mit.edu	37	chr7	42011989	42011989	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcattcttcccgctttgAggtagtgttgctgaggtcct	13	9	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:42011989A>G	ENST00000395925.3	-	13	2134	c.2050T>C	c.(2050-2052)Tca>Cca	p.S684P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	684					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|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)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCCGCTTTGAGGTAGTGTTG	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2050-2052)Tca>Cca		GLI family zinc finger 3							143	146	145					7																	42011989		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42011989A>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2050T>C	7.37:g.42011989A>G	ENSP00000379258:p.Ser684Pro					GLI3_ENST00000479210.1_5'UTR	p.S684P	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			13	2134	-			684					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2050T>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787051	0.70337	.	.	ENSG00000106571	ENST00000395925	T	0.15256	2.44	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	M	0.72479	2.2	0.80722	D	1	P	0.50156	0.932	P	0.52598	0.703	T	0.02491	-1.1151	10	0.29301	T	0.29	.	16.3648	0.83312	1.0:0.0:0.0:0.0	.	684	P10071	GLI3_HUMAN	P	684	ENSP00000379258:S684P	ENSP00000379258:S684P	S	-	1	0	GLI3	41978514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.044000	0.64214	2.263000	0.75096	0.533000	0.62120	TCA		0.562	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	143	0	0	0	1	0	11	143					G	42011989	A	G	42011989	3	3	450	1	0	0	0	0	1	0	0	0	6439	304	11	3	2704	3	GLI3	7	42011989	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		42011989	117126674	30	37740											
ZSCAN21	7589	broad.mit.edu	37	chr7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcttcagtcagcatgCgggcctcagctcccaccaga	11	14	3	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					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)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1201-1203)gCg>gTg		zinc finger and SCAN domain containing 21							87	82	84					7																	99662020		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99662020C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1202C>T	7.37:g.99662020C>T	ENSP00000292450:p.Ala401Val					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	p.A401V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1366	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		401					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1202C>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.269217|3.269217	0.59540|0.59540	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.01068|0.02236	5.38|4.38;4.38	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.03136|0.03136	0.0092|0.0092	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	D|D	0.71674|0.63880	0.998|0.993	B|P	0.42030|0.47705	0.373|0.555	T|T	0.54009|0.54009	-0.8357|-0.8357	10|9	0.87932|0.87932	D|D	0|0	.|.	10.2257|10.2257	0.43225|0.43225	0.1979:0.8021:0.0:0.0|0.1979:0.8021:0.0:0.0	.|.	401|367	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	V|W	401;376|367	ENSP00000292450:A401V|ENSP00000441212:R367W;ENSP00000390960:R367W	ENSP00000292450:A401V|ENSP00000390960:R367W	A|R	+|+	2|1	0|2	ZSCAN21|ZSCAN21	99499956|99499956	0.000000|0.000000	0.05858|0.05858	0.954000|0.954000	0.39281|0.39281	0.389000|0.389000	0.30415|0.30415	0.403000|0.403000	0.20982|0.20982	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.522	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		4	120	0	0	0	1	0	4	120					T	99662020	C	T	99662020	3	4	450	1	0	0	0	0	1	0	0	0	18230	768	27	1	1212	1	ZSCAN21	7	99662020	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	57650031	99662020	59476643	31	37741											
RBM28	55131	broad.mit.edu	37	chr7	127983808	127983808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctcactgcgggccgAgggcgggaggcggcccacaa	17	14	1	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:127983808A>C	ENST00000223073.2	-	1	154	c.40T>G	c.(40-42)Tcg>Gcg	p.S14A	RNU7-27P_ENST00000459281.1_RNA|RBM28_ENST00000415472.2_Missense_Mutation_p.S14A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	14	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGCGGGCCGAGGGCGGGAGG	0.662																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(40-42)Tcg>Gcg		RNA binding motif protein 28							23	19	21					7																	127983808		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127983808A>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.40T>G	7.37:g.127983808A>C	ENSP00000223073:p.Ser14Ala					RBM28_ENST00000415472.2_Missense_Mutation_p.S14A	p.S14A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN			1	154	-			14			RRM 1.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.40T>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803772	0.70682	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061;ENST00000459726	T;T;T;T	0.75589	1.2;-0.95;3.28;3.28	5.76	4.58	0.56647	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.399244	0.27354	N	0.019747	T	0.74981	0.3788	L	0.50993	1.605	0.09310	N	1	P;P	0.50272	0.76;0.933	P;P	0.52646	0.484;0.705	T	0.66909	-0.5804	10	0.54805	T	0.06	-4.2987	8.7461	0.34587	0.6966:0.0:0.0:0.3034	.	14;14	E9PDD9;Q9NW13	.;RBM28_HUMAN	A	14	ENSP00000223073:S14A;ENSP00000390517:S14A;ENSP00000418071:S14A;ENSP00000420503:S14A	ENSP00000223073:S14A	S	-	1	0	RBM28	127771044	1.000000	0.71417	0.841000	0.33234	0.536000	0.34869	2.183000	0.42565	1.073000	0.40885	0.528000	0.53228	TCG		0.662	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		3	19	0	0	0	1	0	3	19					C	127983808	A	C	127983808	3	2	450	1	0	0	0	0	1	0	0	0	13128	304	11	5	2315	5	RBM28	7	127983808	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	28321788	127983808	31154855	32	37742											
WDR91	29062	broad.mit.edu	37	chr7	134891927	134891927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagtcctctgacactccGcatcaaagttcaggatcaca	8	12	4	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:134891927G>A	ENST00000354475.4	-	4	570	c.539C>T	c.(538-540)gCg>gTg	p.A180V	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.A180V|WDR91_ENST00000423565.1_Missense_Mutation_p.A145V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	180								p.A180V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGACACTCCGCATCAAAGTT	0.458																																						ENST00000354475.4																			1	Substitution - Missense(1)	p.A180V(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(538-540)gCg>gTg		WD repeat domain 91							96	87	90					7																	134891927		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134891927G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.539C>T	7.37:g.134891927G>A	ENSP00000346466:p.Ala180Val					WDR91_ENST00000423565.1_Missense_Mutation_p.A145V|WDR91_ENST00000344400.5_Missense_Mutation_p.A180V	p.A180V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			4	570	-			180					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.539C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706558	0.68615	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91792	-2.91;-2.91;-2.91	5.87	5.87	0.94306	.	0.262839	0.44688	D	0.000433	D	0.91209	0.7230	L	0.56769	1.78	0.46499	D	0.999074	B	0.14805	0.011	B	0.08055	0.003	D	0.86335	0.1701	10	0.51188	T	0.08	-13.8918	20.2788	0.98501	0.0:0.0:1.0:0.0	.	180	A4D1P6	WDR91_HUMAN	V	180;180;145	ENSP00000340877:A180V;ENSP00000346466:A180V;ENSP00000392555:A145V	ENSP00000340877:A180V	A	-	2	0	WDR91	134542467	1.000000	0.71417	0.967000	0.41034	0.969000	0.65631	6.033000	0.70925	2.788000	0.95919	0.650000	0.86243	GCG		0.458	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		4	86	0	0	0	1	0	4	86					A	134891927	G	A	134891927	3	1	450	1	0	0	0	0	1	0	0	0	17335	1087	38	1	1752	1	WDR91	7	134891927	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	6908119	134891927	24246736	33	37743											
MTPN	136319	broad.mit.edu	37	chr7	135614721	135614721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcagtggcttcaaaggCggtcagtccatctgggcctt	13	10	4	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:135614721C>A	ENST00000393085.3	-	4	525	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	LUZP6_ENST00000589735.1_5'Flank|AC015987.1_ENST00000419211.1_RNA|MTPN_ENST00000435723.1_Missense_Mutation_p.A38S	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	104					catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634)		p.A104T(1)		endometrium(1)|lung(4)|prostate(1)	6						GCTTCAAAGGCGGTCAGTCCA	0.502																																						ENST00000393085.3																			1	Substitution - Missense(1)	p.A104T(1)	endometrium(1)	endometrium(1)|lung(4)|prostate(1)	6						c.(310-312)Gcc>Tcc		myotrophin							208	161	177					7																	135614721		2203	4300	6503	SO:0001583	missense	136319				cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding	g.chr7:135614721C>A	AC015987	CCDS5842.1	7q33-q35	2013-01-10			ENSG00000105887	ENSG00000105887		"Ankyrin repeat domain containing"	15667	protein-coding gene	gene with protein product	"granule cell differentiation protein"	606484				11474205	Standard	NM_145808		Approved	MYOTROPHIN, GCDP, V-1		P58546	OTTHUMG00000155627	ENST00000393085.3:c.310G>T	7.37:g.135614721C>A	ENSP00000376800:p.Ala104Ser					AC015987.1_ENST00000419211.1_RNA|MTPN_ENST00000435723.1_Missense_Mutation_p.A38S	p.A104S	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN			4	525	-			104						Missense_Mutation	SNP	ENST00000393085.3	37	c.310G>T	CCDS5842.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323102	0.41096	.	.	ENSG00000105887	ENST00000393085;ENST00000435723	T	0.41065	1.01	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	L	0.48362	1.52	0.58432	D	0.999998	P	0.49358	0.923	D	0.69824	0.966	T	0.54589	-0.8271	10	0.51188	T	0.08	.	18.1147	0.89549	0.0:1.0:0.0:0.0	.	104	P58546	MTPN_HUMAN	S	104;38	ENSP00000376800:A104S	ENSP00000376800:A104S	A	-	1	0	MTPN	135265261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.882000	0.98803	0.655000	0.94253	GCC		0.502	MTPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340921.1	NM_145808		16	221	1	0	4.63292e-17	1	5.1206e-17	16	221					A	135614721	C	A	135614721	3	1	450	1	0	0	0	0	1	0	0	0	9957	768	27	4	50	4	MTPN	7	135614721	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	722794	135614721	23523942	34	37744											
RGS22	26166	broad.mit.edu	37	chr8	101075815	101075815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtccgccctgctctctGgtccagcgctctcattcttt	7	17	3	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr8:101075815G>A	ENST00000360863.6	-	8	1375	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	RGS22_ENST00000523287.1_Missense_Mutation_p.P213L|RGS22_ENST00000523437.1_Missense_Mutation_p.P382L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	394					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTGCTCTCTGGTCCAGCGCT	0.368																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1180-1182)cCa>cTa		regulator of G-protein signaling 22							145	132	136					8																	101075815		1890	4108	5998	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101075815G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1181C>T	8.37:g.101075815G>A	ENSP00000354109:p.Pro394Leu					RGS22_ENST00000523437.1_Missense_Mutation_p.P382L|RGS22_ENST00000523287.1_Missense_Mutation_p.P213L	p.P394L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1375	-			394					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1181C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	5.441	0.266509	0.10294	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.62498	0.02;0.02;0.02	5.68	2.73	0.32206	Regulator of G protein signalling superfamily (1);	0.861334	0.10312	N	0.689820	T	0.45677	0.1354	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.28554	-1.0040	10	0.25751	T	0.34	.	5.6952	0.17851	0.2179:0.0:0.6451:0.1371	.	382;394;213	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	394;382;213;382	ENSP00000354109:P394L;ENSP00000429382:P213L;ENSP00000428212:P382L	ENSP00000354109:P394L	P	-	2	0	RGS22	101144991	0.002000	0.14202	0.025000	0.17156	0.026000	0.11368	1.001000	0.29783	0.765000	0.33221	0.650000	0.86243	CCA		0.368	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		11	95	0	0	0	1	0	11	95					A	101075815	G	A	101075815	3	1	450	1	0	0	0	0	1	0	0	0	13305	1348	47	2	2693	2	RGS22	8	101075815	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		101075815	45288207	35	37745											
OR13J1	392309	broad.mit.edu	37	chr9	35869709	35869709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgcagcacctggcggcCgagggcaccctcaggatggt	15	13	1	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr9:35869709C>T	ENST00000377981.2	-	1	752	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	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(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGGCGGCCGAGGGCACCC	0.587																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(688-690)tcG>tcA		olfactory receptor, family 13, subfamily J, member 1							57	52	54					9																	35869709		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869709C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"GPCR / Class A : Olfactory receptors"	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.690G>A	9.37:g.35869709C>T							p.S230S	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	752	-	all_epithelial(49;0.169)		230					B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.690G>A	CCDS35011.1																																																																																				0.587	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			3	36	0	0	0	1	0	3	36					T	35869709	C	T	35869709	2	4	450	1	0	0	0	0	0	0	0	1	10944	639	23	1		1	OR13J1	9	35869709	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		35869709	105343722	36	37746											
ZEB1	6935	broad.mit.edu	37	chr10	31809579	31809579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaagccaatcttgcatccaAagaacaagaaacaatcaatg	5	10	3	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr10:31809579A>G	ENST00000320985.10	+	7	1426	c.1316A>G	c.(1315-1317)aAa>aGa	p.K439R	ZEB1_ENST00000361642.5_Missense_Mutation_p.K440R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.K423R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K372R|ZEB1_ENST00000560721.2_Missense_Mutation_p.K419R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	439					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTTGCATCCAAAGAACAAGAA	0.373																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1267-1269)aAa>aGa		zinc finger E-box binding homeobox 1							80	76	78					10																	31809579		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809579A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1316A>G	10.37:g.31809579A>G	ENSP00000319248:p.Lys439Arg					ZEB1_ENST00000361642.5_Missense_Mutation_p.K440R|ZEB1_ENST00000320985.10_Missense_Mutation_p.K439R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K372R|ZEB1_ENST00000560721.2_Missense_Mutation_p.K419R|ZEB1_ENST00000559858.1_3'UTR	p.K423R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1659	+		Prostate(175;0.0156)	439					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1268A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578514	0.46006	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	D	0.84566	0.5500	M	0.62723	1.935	0.50632	D	0.99988	P;D;D;D;D;P;D;D	0.69078	0.745;0.981;0.979;0.965;0.991;0.885;0.997;0.965	P;P;P;P;P;B;D;P	0.63283	0.545;0.676;0.549;0.629;0.76;0.443;0.913;0.629	T	0.81765	-0.0783	10	0.23302	T	0.38	-31.274	16.5764	0.84681	1.0:0.0:0.0:0.0	.	372;439;423;439;439;419;440;439	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	R	221;439;440;439;372;439;419;298;330;423	ENSP00000444282:K221R;ENSP00000354487:K440R;ENSP00000444891:K372R;ENSP00000319248:K439R;ENSP00000391612:K423R	ENSP00000319248:K439R	K	+	2	0	ZEB1	31849585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.466000	0.90387	2.371000	0.80710	0.533000	0.62120	AAA		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		3	70	0	0	0	1	0	3	70					G	31809579	A	G	31809579	3	3	450	1	0	0	0	0	1	0	0	0	17620	14	1	3	1356	3	ZEB1	10	31809579	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		31809579	103725168	37	37747											
ILK	3611	broad.mit.edu	37	chr11	6630830	6630830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actctcatcacacactggatGccgtatggatccctctacaa	6	14	3	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:6630830G>T	ENST00000396751.2	+	8	1272	c.816G>T	c.(814-816)atG>atT	p.M272I	ILK_ENST00000528995.1_Missense_Mutation_p.M211I|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000537806.1_Missense_Mutation_p.M138I|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000420936.2_Missense_Mutation_p.M272I|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000299421.4_Missense_Mutation_p.M272I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	272	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)		CACACTGGATGCCGTATGGAT	0.517																																						ENST00000396751.2																			0				central_nervous_system(1)	1						c.(814-816)atG>atT		integrin-linked kinase							154	138	143					11																	6630830		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6630830G>T	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.816G>T	11.37:g.6630830G>T	ENSP00000379975:p.Met272Ile					RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Missense_Mutation_p.M272I|ILK_ENST00000537806.1_Missense_Mutation_p.M138I|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000299421.4_Missense_Mutation_p.M272I|ILK_ENST00000528995.1_Missense_Mutation_p.M211I	p.M272I	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	8	1272	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	272			Protein kinase.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.816G>T	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070677	0.55539	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.80746	2.51	0.80722	D	1	B;B	0.18863	0.031;0.017	B;B	0.28784	0.094;0.066	D	0.85916	0.1443	10	0.26408	T;T	0.33;0.33	.	18.6556	0.91452	0.0:0.0:1.0:0.0	.	211;272	B7Z418;Q13418	.;ILK_HUMAN	I	272;138;272;211;272	ENSP00000299421:M272I;ENSP00000439606:M138I;ENSP00000403487:M272I;ENSP00000435323:M211I;ENSP00000379975:M272I	ENSP00000299421:M272I;ENSP00000299421:M272I	M	+	3	0	ILK	6587406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.033000	0.93741	2.884000	0.98904	0.655000	0.94253	ATG		0.517	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		4	110	1	0	0.150653	1	0.152469	4	110					T	6630830	G	T	6630830	3	4	450	1	0	0	0	0	1	0	0	0	7713	1319	46	4	846	4	ILK	11	6630830	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		6630830	128375686	38	37748											
OR4S1	256148	broad.mit.edu	37	chr11	48328584	48328584	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgctgacaaacttatcatCctctttaacattgtgatgcc	6	11	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:48328584C>T	ENST00000319988.1	+	1	810	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	270						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						AACTTATCATCCTCTTTAACA	0.458																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(808-810)atC>atT		olfactory receptor, family 4, subfamily S, member 1							197	174	181					11																	48328584		2201	4298	6499	SO:0001819	synonymous_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328584C>T	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.810C>T	11.37:g.48328584C>T							p.I270I	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	810	+			270					Q6IFB4	Silent	SNP	ENST00000319988.1	37	c.810C>T	CCDS31488.1																																																																																				0.458	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		34	81	0	0	0	1	0	34	81					T	48328584	C	T	48328584	2	4	450	1	0	0	0	0	0	0	0	1	11082	845	30	2		2	OR4S1	11	48328584	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	41697754	48328584	86677932	39	37749											
OR4D5	219875	broad.mit.edu	37	chr11	123811091	123811091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtgccttgcatctaCgtctatacaaggccttttcg	7	11	3	0	rs374012173		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:123811091C>T	ENST00000307033.2	+	1	842	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	256						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)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		CTTGCATCTACGTCTATACAA	0.532																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(766-768)taC>taT		olfactory receptor, family 4, subfamily D, member 5		C		1,4403	2.1+/-5.4	0,1,2201	209	159	176		768	1.2	1	11		176	0,8598		0,0,4299	no	coding-synonymous	OR4D5	NM_001001965.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		256/319	123811091	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811091C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.768C>T	11.37:g.123811091C>T							p.Y256Y	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	842	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	256					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.768C>T	CCDS31699.1																																																																																				0.532	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		10	151	0	0	0	1	0	10	151					T	123811091	C	T	123811091	2	4	450	1	0	0	0	0	0	0	0	1	11057	547	19	1		1	OR4D5	11	123811091	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	75482507	123811091	11195425	40	37750											
SLC2A14	144195	broad.mit.edu	37	chr12	7984361	7984361	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgataaattcctttatgatCtgcaaaataaaaggtgggag	9	4	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:7984361C>T	ENST00000543909.1	-	9	940		c.e9-1		SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000431042.2_Splice_Site|SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000340749.5_Splice_Site|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCTTTATGATCTGCAAAATAA	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.e9-1		solute carrier family 2 (facilitated glucose transporter), member 14							74	72	73					12																	7984361		2203	4300	6503	SO:0001630	splice_region_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984361C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.181-1G>A	12.37:g.7984361C>T			OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000431042.2_Splice_Site|SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Splice_Site				Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	940	-								B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Splice_Site	SNP	ENST00000543909.1	37		CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498481	0.64298	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916;ENST00000535383	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0485	0.58942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC2A14	7875628	1.000000	0.71417	0.967000	0.41034	0.533000	0.34776	5.217000	0.65252	1.704000	0.51252	0.585000	0.79938	.		0.448	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	Intron	23	44	0	0	0	1	0	23	44					T	7984361	C	T	7984361	5	4	450	1	0	0	0	0	0	0	1	0	14543	927	32	2	1414	2	SLC2A14	12	7984361	Splice_Site	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		7984361	125867534	41	37751											
DENND5B	160518	broad.mit.edu	37	chr12	31632836	31632836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcctgcatgaatggtaaCggtgtgatcaagcatatact	11	8	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:31632836C>T	ENST00000389082.5	-	3	855	c.591G>A	c.(589-591)ccG>ccA	p.P197P	DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Silent_p.P219P|DENND5B_ENST00000306833.6_Silent_p.P232P|DENND5B_ENST00000536562.1_Silent_p.P232P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	197	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGAATGGTAACGGTGTGATCA	0.433																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(589-591)ccG>ccA		DENN/MADD domain containing 5B							137	132	133					12																	31632836		1938	4140	6078	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31632836C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.591G>A	12.37:g.31632836C>T						DENND5B_ENST00000306833.6_Silent_p.P232P|DENND5B_ENST00000536562.1_Silent_p.P232P|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Silent_p.P219P	p.P197P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			3	855	-			197			DENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.591G>A	CCDS44857.1																																																																																				0.433	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		15	34	0	0	0	1	0	15	34					T	31632836	C	T	31632836	2	4	450	1	0	0	0	0	0	0	0	1	4437	523	19	1		1	DENND5B	12	31632836	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	23648475	31632836	102219059	42	37752											
RFX4	5992	broad.mit.edu	37	chr12	107083127	107083127	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactggacactgtaataagAgccaactttgatgaggtagg	11	6	0	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:107083127A>G	ENST00000392842.1	+	7	1068	c.654A>G	c.(652-654)agA>agG	p.R218R	RFX4_ENST00000229387.5_Silent_p.R124R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.R227R	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	218					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTAATAAGAGCCAACTTTG	0.413																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(652-654)agA>agG		regulatory factor X, 4 (influences HLA class II expression)							157	144	149					12																	107083127		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107083127A>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.654A>G	12.37:g.107083127A>G						RFX4_ENST00000357881.4_Silent_p.R227R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.R124R	p.R218R	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			7	1068	+			218					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.654A>G	CCDS9106.1																																																																																				0.413	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		36	70	0	0	0	1	0	36	70					G	107083127	A	G	107083127	2	3	450	1	0	0	0	0	0	0	0	1	13265	301	11	3		3	RFX4	12	107083127	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	75450291	107083127	26768768	43	37753											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			19	48	0	0	0	1	0	19	48					T	90631838	C	T	90631838	3	4	450	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		90631838	11899554	44	37754											
UQCRC2	7385	broad.mit.edu	37	chr16	21982886	21982886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagttgctgaacagttTctcaacatgaggggtgggct	13	7	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr16:21982886T>G	ENST00000268379.4	+	9	1475	c.711T>G	c.(709-711)ttT>ttG	p.F237L	UQCRC2_ENST00000561553.1_Missense_Mutation_p.F237L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	237					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTGAACAGTTTCTCAACATGA	0.403																																					Colon(123;450 1645 12841 25393 45623)	ENST00000268379.4																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(709-711)ttT>ttG		ubiquinol-cytochrome c reductase core protein II							132	120	124					16																	21982886		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21982886T>G	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.711T>G	16.37:g.21982886T>G	ENSP00000268379:p.Phe237Leu					UQCRC2_ENST00000561553.1_Missense_Mutation_p.F237L	p.F237L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	9	1475	+			237					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.711T>G	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301469	0.40694	.	.	ENSG00000140740	ENST00000268379	T	0.06933	3.24	4.86	1.31	0.21738	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	L	0.31120	0.905	0.58432	D	0.999998	B	0.16166	0.016	B	0.18871	0.023	T	0.38134	-0.9675	10	0.09590	T	0.72	-20.2618	7.2952	0.26389	0.0:0.5142:0.0:0.4858	.	237	P22695	QCR2_HUMAN	L	237	ENSP00000268379:F237L	ENSP00000268379:F237L	F	+	3	2	UQCRC2	21890387	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.289000	0.33307	0.304000	0.22809	0.454000	0.30748	TTT		0.403	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		35	48	0	0	0	1	0	35	48					G	21982886	T	G	21982886	3	3	450	1	0	0	0	0	1	0	0	0	17017	1780	62	5	745	5	UQCRC2	16	21982886	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08		21982886	68371867	45	37755											
C16orf61	56942	broad.mit.edu	37	chr16	81015424	81015424	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttacctcattcttcaggCattttctcaactcccgatca	3	14	6	0	rs555611878		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr16:81015424C>A	ENST00000219400.3	-	3	555	c.140G>T	c.(139-141)tGc>tTc	p.C47F	CMC2_ENST00000565914.1_Missense_Mutation_p.C47F|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000566231.1_5'UTR|CMC2_ENST00000565108.1_Intron|CMC2_ENST00000565925.1_Missense_Mutation_p.C47F|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000564249.1_Missense_Mutation_p.C47F|CMC2_ENST00000570195.1_Missense_Mutation_p.C66F|CMC2_ENST00000562713.1_Missense_Mutation_p.C47F	NM_020188.3	NP_064573.1	Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2	47						mitochondrion (GO:0005739)											ATTCTTCAGGCATTTTCTCAA	0.303																																						ENST00000219400.3																			0											c.(139-141)tGc>tTc		C-x(9)-C motif containing 2							93	86	88					16																	81015424		2203	4299	6502	SO:0001583	missense	56942							g.chr16:81015424C>A	BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 61", "COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000219400.3:c.140G>T	16.37:g.81015424C>A	ENSP00000219400:p.Cys47Phe					CMC2_ENST00000565914.1_Missense_Mutation_p.C47F|CMC2_ENST00000565925.1_Missense_Mutation_p.C47F|CMC2_ENST00000570195.1_Missense_Mutation_p.C66F|CMC2_ENST00000565108.1_Intron|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000562713.1_Missense_Mutation_p.C47F|CMC2_ENST00000566231.1_5'UTR|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000564249.1_Missense_Mutation_p.C47F	p.C47F	NM_020188.3	NP_064573.1	Q9NRP2	CP061_HUMAN			3	555	-			47					D3DUK6	Missense_Mutation	SNP	ENST00000219400.3	37	c.140G>T	CCDS10930.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836227	0.50951	.	.	ENSG00000103121	ENST00000219400	D	0.96651	-4.08	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	.	.	.	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	9	0.87932	D	0	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	47	Q9NRP2	CP061_HUMAN	F	47	ENSP00000219400:C47F	ENSP00000219400:C47F	C	-	2	0	C16orf61	79572925	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	4.460000	0.60108	2.941000	0.99782	0.655000	0.94253	TGC		0.303	CMC2-001	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269047.1	NM_020188		11	48	1	0	0.00185496	1	0.00194771	11	48					A	81015424	C	A	81015424	3	1	450	1	0	0	0	0	1	0	0	0	1824	710	25	4	107	4	C16orf61	16	81015424	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	59032538	81015424	9339329	46	37756											
KIF1C	10749	broad.mit.edu	37	chr17	4905406	4905406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaccagagtgctcagctatCctactctgtggaggtaagcc	11	11	2	1	rs578027417		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:4905406C>T	ENST00000320785.5	+	6	773	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	139	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						GCTCAGCTATCCTACTCTGTG	0.572																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(415-417)tCc>tTc		kinesin family member 1C							109	94	99					17																	4905406		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4905406C>T	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.416C>T	17.37:g.4905406C>T	ENSP00000320821:p.Ser139Phe						p.S139F	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			6	773	+			139			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.416C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259400	0.95368	.	.	ENSG00000129250	ENST00000320785	T	0.76186	-1.0	5.45	5.45	0.79879	Kinesin, motor domain (4);	.	.	.	.	D	0.87241	0.6128	M	0.84326	2.69	0.58432	D	0.999994	D	0.71674	0.998	D	0.79108	0.992	D	0.88611	0.3156	9	0.87932	D	0	.	17.1494	0.86774	0.0:1.0:0.0:0.0	.	139	O43896	KIF1C_HUMAN	F	139	ENSP00000320821:S139F	ENSP00000320821:S139F	S	+	2	0	KIF1C	4846130	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.636000	0.83301	2.740000	0.93945	0.561000	0.74099	TCC		0.572	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			6	106	0	0	0	1	0	6	106					T	4905406	C	T	4905406	3	4	450	1	0	0	0	0	1	0	0	0	8285	855	30	2	430	2	KIF1C	17	4905406	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		4905406	76289804	47	37757											
ACADVL	37	broad.mit.edu	37	chr17	7126528	7126528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaggagaagctggcacGgatggttatgctgcagtatg	15	7	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:7126528G>A	ENST00000356839.5	+	11	1333	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Missense_Mutation_p.R408Q|ACADVL_ENST00000350303.5_Missense_Mutation_p.R363Q	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	385	Catalytic.				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						AAGCTGGCACGGATGGTTATG	0.562																																						ENST00000356839.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						c.(1153-1155)cGg>cAg		acyl-CoA dehydrogenase, very long chain							139	138	138					17																	7126528		2203	4300	6503	SO:0001583	missense	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7126528G>A	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.1154G>A	17.37:g.7126528G>A	ENSP00000349297:p.Arg385Gln					ACADVL_ENST00000543245.2_Missense_Mutation_p.R408Q|ACADVL_ENST00000350303.5_Missense_Mutation_p.R363Q	p.R385Q	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN			11	1333	+			385			Catalytic.		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	ENST00000356839.5	37	c.1154G>A	CCDS11090.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673532	0.47781	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.95918	-3.85;-3.85	5.62	4.65	0.58169	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.122265	0.53938	D	0.000055	D	0.93080	0.7797	N	0.21324	0.655	0.50632	D	0.999889	B;B;D	0.76494	0.324;0.324;0.999	B;B;P	0.57101	0.013;0.022;0.813	D	0.89466	0.3740	10	0.13853	T	0.58	.	11.5518	0.50725	0.086:0.0:0.914:0.0	.	408;363;385	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	Q	408;431;363;385;431	ENSP00000438689:R408Q;ENSP00000344152:R363Q	ENSP00000325395:R385Q	R	+	2	0	ACADVL	7067252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.466000	0.45084	2.655000	0.90218	0.655000	0.94253	CGG		0.562	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		5	132	0	0	0	1	0	5	132					A	7126528	G	A	7126528	3	1	450	1	0	0	0	0	1	0	0	0	116	1116	39	1	1196	1	ACADVL	17	7126528	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	2221122	7126528	74068682	48	37758											
TEX2	55852	broad.mit.edu	37	chr17	62291171	62291171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgacgaagacgaccctGgggacacagccaatggcact	12	15	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:62291171G>A	ENST00000583097.1	-	2	579	c.407C>T	c.(406-408)cCa>cTa	p.P136L	TEX2_ENST00000258991.3_Missense_Mutation_p.P136L|TEX2_ENST00000584379.1_Missense_Mutation_p.P136L			Q8IWB9	TEX2_HUMAN	testis expressed 2	136					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGACGACCCTGGGGACACAGC	0.537																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(406-408)cCa>cTa		testis expressed 2							79	83	82					17																	62291171		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291171G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.407C>T	17.37:g.62291171G>A	ENSP00000462665:p.Pro136Leu					TEX2_ENST00000583097.1_Missense_Mutation_p.P136L|TEX2_ENST00000584379.1_Missense_Mutation_p.P136L	p.P136L			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	491	-			136					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.407C>T		.	.	.	.	.	.	.	.	.	.	G	9.973	1.226133	0.22542	.	.	ENSG00000136478	ENST00000258991	T	0.52983	0.64	5.47	3.37	0.38596	.	0.106982	0.41938	D	0.000788	T	0.31638	0.0803	L	0.27053	0.805	0.48185	D	0.999607	B;B	0.12630	0.006;0.004	B;B	0.10450	0.005;0.002	T	0.10405	-1.0631	10	0.37606	T	0.19	-8.1264	8.4285	0.32744	0.0779:0.0:0.7694:0.1526	.	136;136	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	136	ENSP00000258991:P136L	ENSP00000258991:P136L	P	-	2	0	TEX2	59644903	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	5.163000	0.64948	1.317000	0.45149	0.561000	0.74099	CCA		0.537	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		39	85	0	0	0	1	0	39	85					A	62291171	G	A	62291171	3	1	450	1	0	0	0	0	1	0	0	0	15778	1348	47	2	3041	2	TEX2	17	62291171	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	55164643	62291171	18904039	49	37759											
DSC2	1824	broad.mit.edu	37	chr18	28651576	28651576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttaagacttacaaaagAgcaatgctatgcccaacaat	7	9	0	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:28651576A>C	ENST00000280904.6	-	13	2563	c.2120T>G	c.(2119-2121)cTc>cGc	p.L707R	DSC2_ENST00000251081.6_Missense_Mutation_p.L707R|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	707					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTACAAAAGAGCAATGCTAT	0.413																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(2119-2121)cTc>cGc		desmocollin 2							102	99	100					18																	28651576		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651576A>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2120T>G	18.37:g.28651576A>C	ENSP00000280904:p.Leu707Arg					DSC2_ENST00000251081.6_Missense_Mutation_p.L707R	p.L707R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2563	-			707						Missense_Mutation	SNP	ENST00000280904.6	37	c.2120T>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.780904	0.70222	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.72615	-0.49;-0.67	6.07	4.91	0.64330	.	0.000000	0.27362	N	0.019706	D	0.85146	0.5630	M	0.87827	2.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.86854	0.2025	10	0.87932	D	0	.	12.3182	0.54969	0.9341:0.0:0.0659:0.0	.	707;707	Q02487;Q02487-2	DSC2_HUMAN;.	R	707;707;473;720	ENSP00000251081:L707R;ENSP00000280904:L707R	ENSP00000251081:L707R	L	-	2	0	DSC2	26905574	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	6.340000	0.72973	1.110000	0.41699	0.477000	0.44152	CTC		0.413	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		3	49	0	0	0	1	0	3	49					C	28651576	A	C	28651576	3	2	450	1	0	0	0	0	1	0	0	0	4766	304	11	5	641	5	DSC2	18	28651576	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		28651576	49425672	50	37760											
DOK6	220164	broad.mit.edu	37	chr18	67406223	67406223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgacacaggagaaggaCtattcacttttcaaacaagg	10	7	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:67406223C>T	ENST00000382713.5	+	6	812	c.622C>T	c.(622-624)Cta>Tta	p.L208L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	208	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGGAGAAGGACTATTCACTTT	0.418																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(622-624)Cta>Tta		docking protein 6							154	151	152					18																	67406223		2203	4300	6503	SO:0001819	synonymous_variant	220164						insulin receptor binding	g.chr18:67406223C>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.622C>T	18.37:g.67406223C>T						DOK6_ENST00000584435.1_3'UTR	p.L208L	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			6	812	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	208			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	c.622C>T	CCDS32841.1																																																																																				0.418	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		5	114	0	0	0	1	0	5	114					T	67406223	C	T	67406223	2	4	450	1	0	0	0	0	0	0	0	1	4701	564	20	2		2	DOK6	18	67406223	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	38754647	67406223	10671025	51	37761											
UBXN6	80700	broad.mit.edu	37	chr19	4446151	4446151	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgcagggcctcccggacGaacccgtacaccgcccccag	10	20	1	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:4446151G>A	ENST00000301281.6	-	10	1219	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Silent_p.F312F	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	365	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					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						CCTCCCGGACGAACCCGTACA	0.692																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1093-1095)ttC>ttT		UBX domain protein 6							21	23	22					19																	4446151		2200	4298	6498	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446151G>A	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.1095C>T	19.37:g.4446151G>A						UBXN6_ENST00000394765.3_Silent_p.F312F	p.F365F	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			10	1219	-			365			UBX.		D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.1095C>T	CCDS12129.1																																																																																				0.692	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	15	0	0	0	1	0	8	15					A	4446151	G	A	4446151	2	1	450	1	0	0	0	0	0	0	0	1	16914	1049	37	1		1	UBXN6	19	4446151	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		4446151	54682832	52	37762											
ILVBL	10994	broad.mit.edu	37	chr19	15227282	15227282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacccagtctggggcccagGtctggccctgaaggccctcc	12	18	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:15227282G>T	ENST00000263383.3	-	11	1377	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	ILVBL_ENST00000534378.1_Missense_Mutation_p.T306N|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	413						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGGGCCCAGGTCTGGCCCTG	0.637																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1237-1239)aCc>aAc		ilvB (bacterial acetolactate synthase)-like							52	54	53					19																	15227282		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15227282G>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1238C>A	19.37:g.15227282G>T	ENSP00000263383:p.Thr413Asn					ILVBL_ENST00000534378.1_Missense_Mutation_p.T306N	p.T413N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			11	1377	-			413					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1238C>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	0.926	-0.714275	0.03206	.	.	ENSG00000105135	ENST00000263383	T	0.41400	1.0	5.41	0.657	0.17850	.	0.240920	0.40064	N	0.001183	T	0.30070	0.0753	L	0.55481	1.735	0.20821	N	0.999849	B	0.02656	0.0	B	0.08055	0.003	T	0.19877	-1.0292	10	0.19147	T	0.46	-4.9739	5.7298	0.18032	0.2318:0.0:0.6321:0.136	.	413	A1L0T0	ILVBL_HUMAN	N	413	ENSP00000263383:T413N	ENSP00000263383:T413N	T	-	2	0	ILVBL	15088282	0.026000	0.19158	0.101000	0.21167	0.212000	0.24457	0.162000	0.16501	-0.005000	0.14395	0.561000	0.74099	ACC		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		3	61	1	0	0.0215528	1	0.0220784	3	61					T	15227282	G	T	15227282	3	4	450	1	0	0	0	0	1	0	0	0	7715	1261	44	4	684	4	ILVBL	19	15227282	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	10781131	15227282	43901701	53	37763											
ZNF460	10794	broad.mit.edu	37	chr19	57803125	57803125	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagcctttagcattcgaaaaGacctcattcgacacttcaac	5	12	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:57803125G>T	ENST00000360338.3	+	3	1538	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y	ZNF460_ENST00000537645.1_Missense_Mutation_p.D365Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	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)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCGAAAAGACCTCATTCG	0.473																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1216-1218)Gac>Tac		zinc finger protein 460							76	80	79					19																	57803125		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803125G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1216G>T	19.37:g.57803125G>T	ENSP00000353491:p.Asp406Tyr					ZNF460_ENST00000537645.1_Missense_Mutation_p.D365Y	p.D406Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1538	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	406					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1216G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	3.401	-0.122234	0.06795	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.07444	3.19;3.19	1.68	-0.753	0.11068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	L	0.33753	1.03	0.09310	N	1	D	0.64830	0.994	D	0.63192	0.912	T	0.25847	-1.0120	9	0.30854	T	0.27	.	3.7366	0.08512	0.2927:0.2118:0.4954:0.0	.	406	Q14592	ZN460_HUMAN	Y	365;406	ENSP00000446167:D365Y;ENSP00000353491:D406Y	ENSP00000353491:D406Y	D	+	1	0	ZNF460	62494937	0.000000	0.05858	0.001000	0.08648	0.491000	0.33493	-2.535000	0.00940	-0.128000	0.11641	0.650000	0.86243	GAC		0.473	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		18	32	1	0	7.41877e-09	1	7.88832e-09	18	32					T	57803125	G	T	57803125	3	4	450	1	0	0	0	0	1	0	0	0	17921	942	33	4	1226	4	ZNF460	19	57803125	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	42575843	57803125	1325858	54	37764											
ENTPD6	955	broad.mit.edu	37	chr20	25187970	25187970	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtcttctacgggatcAtgtttgatgcaggaagcact	12	8	3	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:25187970A>T	ENST00000376652.4	+	3	476	c.313A>T	c.(313-315)Atg>Ttg	p.M105L	ENTPD6_ENST00000354989.5_Missense_Mutation_p.M88L|ENTPD6_ENST00000360031.2_Missense_Mutation_p.M104L|ENTPD6_ENST00000433259.2_Missense_Mutation_p.M105L			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	105					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTACGGGATCATGTTTGATGC	0.662																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(310-312)Atg>Ttg		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							60	59	59					20																	25187970		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25187970A>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.313A>T	20.37:g.25187970A>T	ENSP00000365840:p.Met105Leu					ENTPD6_ENST00000354989.5_Missense_Mutation_p.M88L|ENTPD6_ENST00000433259.2_Missense_Mutation_p.M105L|ENTPD6_ENST00000376652.4_Missense_Mutation_p.M105L	p.M104L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			3	492	+			105					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.310A>T	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585013	0.86748	.	.	ENSG00000197586	ENST00000354989;ENST00000360031;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000435520;ENST00000418890;ENST00000425813	T;T;T;T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86;2.86	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	M	0.84156	2.68	0.54753	D	0.999989	D;D;P;D;D;D;D;D	0.89917	1.0;0.97;0.943;0.999;0.985;0.988;0.998;0.999	D;P;P;D;D;D;D;D	0.91635	0.999;0.896;0.874;0.996;0.918;0.951;0.995;0.996	T	0.12426	-1.0548	10	0.72032	D	0.01	-2.1109	11.1423	0.48411	1.0:0.0:0.0:0.0	.	87;105;105;105;88;104;104;105	B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.;.;.;.;.;.;.;ENTP6_HUMAN	L	88;104;1;105;87;87;105;104;88;105	ENSP00000347084:M88L;ENSP00000353131:M104L;ENSP00000365840:M105L;ENSP00000408098:M87L;ENSP00000395064:M87L;ENSP00000401895:M105L;ENSP00000398844:M104L;ENSP00000390511:M88L;ENSP00000390646:M105L	ENSP00000347084:M88L	M	+	1	0	ENTPD6	25135970	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.986000	0.76200	2.131000	0.65755	0.379000	0.24179	ATG		0.662	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			6	60	0	0	0	1	0	6	60					T	25187970	A	T	25187970	3	4	450	1	0	0	0	0	1	0	0	0	5143	217	8	5	326	5	ENTPD6	20	25187970	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		25187970	37837550	55	37765											
PCIF1	63935	broad.mit.edu	37	chr20	44569128	44569128	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagtcggaccctttgggGctgaatgcgaccccactgcc	11	16	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:44569128G>T	ENST00000372409.3	+	5	628	c.264G>T	c.(262-264)ggG>ggT	p.G88G		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	88					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCCTTTGGGGCTGAATGCGA	0.622																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(262-264)ggG>ggT		PDX1 C-terminal inhibiting factor 1							25	21	22					20																	44569128		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44569128G>T	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.264G>T	20.37:g.44569128G>T							p.G88G	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			5	628	+			88					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.264G>T	CCDS13388.1																																																																																				0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		3	11	1	0	1	1	1	3	11					T	44569128	G	T	44569128	2	4	450	1	0	0	0	0	0	0	0	1	11580	1190	42	4		4	PCIF1	20	44569128	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	19381158	44569128	18456392	56	37766											
PCNT	5116	broad.mit.edu	37	chr21	47809221	47809221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaattagcagccacatgCgtgaaagctttctcatgagc	9	10	1	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr21:47809221C>T	ENST00000359568.5	+	19	3822	c.3715C>T	c.(3715-3717)Cgt>Tgt	p.R1239C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1239					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)					CAGCCACATGCGTGAAAGCTT	0.572																																						ENST00000359568.5																			0				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						c.(3715-3717)Cgt>Tgt		pericentrin							94	94	94					21																	47809221		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47809221C>T	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.3715C>T	21.37:g.47809221C>T	ENSP00000352572:p.Arg1239Cys					PCNT_ENST00000480896.1_3'UTR	p.R1239C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			19	3822	+	Breast(49;0.112)		1239					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.3715C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.213984	0.09810	.	.	ENSG00000160299	ENST00000359568	T	0.01246	5.11	5.44	-0.238	0.13055	.	.	.	.	.	T	0.00695	0.0023	N	0.01576	-0.805	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.06405	0.002;0.001	T	0.47328	-0.9126	9	0.33940	T	0.23	.	8.5797	0.33621	0.0:0.4404:0.0:0.5596	.	1121;1239	O95613-2;O95613	.;PCNT_HUMAN	C	1239	ENSP00000352572:R1239C	ENSP00000352572:R1239C	R	+	1	0	PCNT	46633649	0.575000	0.26692	0.048000	0.18961	0.243000	0.25628	0.333000	0.19768	0.042000	0.15717	0.467000	0.42956	CGT		0.572	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	96	0	0	0	1	0	5	96					T	47809221	C	T	47809221	3	4	450	1	0	0	0	0	1	0	0	0	11590	768	27	1	3789	1	PCNT	21	47809221	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		47809221	320674	57	37767											
HDHD1A	8226	broad.mit.edu	37	chrX	6995447	6995447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggtggccagtgcaaaGgggatgccatgtttccgcag	16	9	0	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:6995447G>A	ENST00000381077.5	-	3	400	c.324C>T	c.(322-324)ccC>ccT	p.P108P	HDHD1_ENST00000540122.1_Silent_p.P108P|HDHD1_ENST00000424830.2_Silent_p.P131P|HDHD1_ENST00000412827.2_Silent_p.P65P	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	108					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						CCAGTGCAAAGGGGATGCCAT	0.582																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(322-324)ccC>ccT		haloacid dehalogenase-like hydrolase domain containing 1							52	52	52					X																	6995447		2081	4189	6270	SO:0001819	synonymous_variant	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995447G>A	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.324C>T	X.37:g.6995447G>A						HDHD1_ENST00000540122.1_Silent_p.P108P|HDHD1_ENST00000412827.2_Silent_p.P65P|HDHD1_ENST00000424830.2_Silent_p.P131P	p.P108P	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			3	400	-			108					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	c.324C>T	CCDS48075.1																																																																																				0.582	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		6	56	0	0	0	1	0	6	56					A	6995447	G	A	6995447	2	1	450	1	0	0	0	0	0	0	0	1	7022	987	35	2		2	HDHD1A	23	6995447	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		6995447	148275113	58	37768											
TLR7	51284	broad.mit.edu	37	chrX	12905355	12905355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctggatataagcagtaaTagccattattttcaatcaga	7	6	3	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:12905355T>C	ENST00000380659.3	+	3	1867	c.1728T>C	c.(1726-1728)aaT>aaC	p.N576N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	576					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|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 chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TAAGCAGTAATAGCCATTATT	0.373																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1726-1728)aaT>aaC		toll-like receptor 7	Imiquimod(DB00724)						125	134	131					X																	12905355		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905355T>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1728T>C	X.37:g.12905355T>C							p.N576N	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1867	+			576					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.1728T>C	CCDS14151.1																																																																																				0.373	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		4	275	0	0	0	1	0	4	275					C	12905355	T	C	12905355	2	2	450	1	0	0	0	0	0	0	0	1	15953	1403	49	3		3	TLR7	23	12905355	Silent	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	5909908	12905355	142365205	59	37769											
PHEX	5251	broad.mit.edu	37	chrX	22094543	22094543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagtagaaggcgggacacCgaagccatacagaaagccaa	11	10	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:22094543C>T	ENST00000379374.4	+	4	952	c.387C>T	c.(385-387)acC>acT	p.T129T	PHEX_ENST00000535894.1_Silent_p.T32T|PHEX_ENST00000537599.1_Silent_p.T129T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	129					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						GGCGGGACACCGAAGCCATAC	0.388																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(385-387)acC>acT		phosphate regulating endopeptidase homolog, X-linked							99	90	93					X																	22094543		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22094543C>T	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.387C>T	X.37:g.22094543C>T						PHEX_ENST00000537599.1_Silent_p.T129T|PHEX_ENST00000535894.1_Silent_p.T32T	p.T129T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			4	952	+			129					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.387C>T	CCDS14204.1																																																																																				0.388	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		17	30	0	0	0	1	0	17	30					T	22094543	C	T	22094543	2	4	450	1	0	0	0	0	0	0	0	1	11819	639	23	1		1	PHEX	23	22094543	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	9189188	22094543	133176017	60	37770											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998610	27998610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccctgtgcttggccacaCgcttagtattctcgcaatat	8	13	1	0	rs146103278		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:27998610C>T	ENST00000441525.1	-	1	956	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	281										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						CTTGGCCACACGCTTAGTATT	0.498																																						ENST00000441525.1																			0				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						c.(841-843)cGt>cAt		DDB1 and CUL4 associated factor 8-like 1		C	HIS/ARG	1,3832		0,1,1630,571	90	77	82		842	0.8	0.1	X	dbSNP_134	82	0,6728		0,0,2428,1872	no	missense	DCAF8L1	NM_001017930.1	29	0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign	281/601	27998610	1,10560	2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998610C>T		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.842G>A	X.37:g.27998610C>T	ENSP00000405222:p.Arg281His						p.R281H	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	956	-			281					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.842G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467085	0.26335	2.61E-4	0.0	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	0.842	0.18927	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	0.70413	0.3221	L	0.52364	1.645	0.50313	D	0.99986	B	0.21905	0.062	B	0.15870	0.014	T	0.64761	-0.6331	10	0.46703	T	0.11	-4.3178	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	281	A6NGE4	DC8L1_HUMAN	H	281	ENSP00000405222:R281H	ENSP00000405222:R281H	R	-	2	0	DCAF8L1	27908531	1.000000	0.71417	0.072000	0.20136	0.042000	0.13812	2.947000	0.49058	0.691000	0.31592	0.284000	0.19432	CGT		0.498	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		9	86	0	0	0	1	0	9	86					T	27998610	C	T	27998610	3	4	450	1	0	0	0	0	1	0	0	0	4277	536	19	1	964	1	DCAF8L1	23	27998610	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	5904067	27998610	127271950	61	37771											
NYX	60506	broad.mit.edu	37	chrX	41333636	41333636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgcgctgcacctcaaCggcaaccgcctcaccgtgct	8	20	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:41333636C>T	ENST00000342595.2	+	2	1386	c.930C>T	c.(928-930)aaC>aaT	p.N310N	NYX_ENST00000378220.1_Silent_p.N310N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	310					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						TGCACCTCAACGGCAACCGCC	0.677																																						ENST00000342595.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(928-930)aaC>aaT		nyctalopin							43	40	41					X																	41333636		2202	4299	6501	SO:0001819	synonymous_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333636C>T	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.930C>T	X.37:g.41333636C>T						NYX_ENST00000378220.1_Silent_p.N310N	p.N310N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1386	+			310					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.930C>T	CCDS14256.1																																																																																				0.677	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		22	60	0	0	0	1	0	22	60					T	41333636	C	T	41333636	2	4	450	1	0	0	0	0	0	0	0	1	10797	535	19	1		1	NYX	23	41333636	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	13335026	41333636	113936924	62	37772											
TAF1	6872	broad.mit.edu	37	chrX	70612782	70612782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaacagatgcagaccttCgtcgcctttccctgaaaaat	8	12	0	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:70612782C>T	ENST00000373790.4	+	20	3037	c.2986C>T	c.(2986-2988)Cgt>Tgt	p.R996C	TAF1_ENST00000276072.3_Missense_Mutation_p.R1017C|TAF1_ENST00000449580.1_Missense_Mutation_p.R996C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1017C	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	996					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.R996C(1)|p.R1017C(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)				TGCAGACCTTCGTCGCCTTTC	0.433																																						ENST00000449580.1																			2	Substitution - Missense(2)	p.R996C(1)|p.R1017C(1)	kidney(2)	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						c.(2986-2988)Cgt>Tgt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							161	147	152					X																	70612782		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70612782C>T		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.2986C>T	X.37:g.70612782C>T	ENSP00000362895:p.Arg996Cys					TAF1_ENST00000373790.4_Missense_Mutation_p.R996C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1017C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1017C	p.R996C			P21675	TAF1_HUMAN			20	3037	+	Renal(35;0.156)	all_lung(315;0.000321)	996					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2986C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	19.78	3.890321	0.72524	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.44	4.58	0.56647	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.043914	0.85682	N	0.000000	T	0.49745	0.1575	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.60806	-0.7190	10	0.87932	D	0	.	13.3377	0.60526	0.0:0.922:0.0:0.078	.	996;996;1017	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	C	996;996;1017;1017	ENSP00000362895:R996C;ENSP00000389000:R996C;ENSP00000406549:R1017C;ENSP00000276072:R1017C	ENSP00000276072:R1017C	R	+	1	0	TAF1	70529507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	1.083000	0.41159	0.529000	0.55759	CGT		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		4	177	0	0	0	1	0	4	177					T	70612782	C	T	70612782	3	4	450	1	0	0	0	0	1	0	0	0	15510	884	31	1	3127	1	TAF1	23	70612782	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	29279146	70612782	84657778	63	37773											
RAP2C	57826	broad.mit.edu	37	chrX	131348282	131348282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgacgatctcagcaaaaaGttcatccaccattgatttac	5	12	2	2	rs371502735		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:131348282G>T	ENST00000342983.2	-	3	1212	c.466C>A	c.(466-468)Ctt>Att	p.L156I	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.L156I|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	156					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)					TCAGCAAAAAGTTCATCCACC	0.443																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(466-468)Ctt>Att		RAP2C, member of RAS oncogene family							141	116	124					X																	131348282		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348282G>T	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.466C>A	X.37:g.131348282G>T	ENSP00000340274:p.Leu156Ile					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.L156I	p.L156I	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1212	-	Acute lymphoblastic leukemia(192;0.000127)		156					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.466C>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984417	0.18889	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	D;D	0.82081	-1.57;-1.57	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	N	0.04162	-0.26	0.44477	D	0.997419	B	0.09022	0.002	B	0.20384	0.029	T	0.64483	-0.6397	10	0.02654	T	1	.	18.7107	0.91655	0.0:0.0:1.0:0.0	.	156	Q9Y3L5	RAP2C_HUMAN	I	156	ENSP00000340274:L156I;ENSP00000359911:L156I	ENSP00000340274:L156I	L	-	1	0	RAP2C	131175963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.363000	0.80096	0.556000	0.70494	CTT		0.443	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		9	133	1	0	0.00621372	1	0.00644385	9	133					T	131348282	G	T	131348282	3	4	450	1	0	0	0	0	1	0	0	0	13042	1029	36	4	89	4	RAP2C	23	131348282	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	60735500	131348282	23922278	64	37774											
DDX26B	203522	broad.mit.edu	37	chrX	134707958	134707958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatccaatctgctgaaaaCgcacaagtttattgttggac	9	8	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:134707958C>T	ENST00000370752.4	+	12	1935	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	534										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGAAAACGCACAAGTTT	0.358																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1600-1602)aCg>aTg		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							53	52	52					X																	134707958		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134707958C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1601C>T	X.37:g.134707958C>T	ENSP00000359788:p.Thr534Met					DDX26B_ENST00000493637.1_3'UTR	p.T534M	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			12	1935	+	Acute lymphoblastic leukemia(192;6.56e-05)		534					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1601C>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068679	0.36470	.	.	ENSG00000165359	ENST00000370752	T	0.35048	1.33	5.5	3.74	0.42951	.	0.259697	0.44097	N	0.000485	T	0.46367	0.1389	M	0.67953	2.075	0.38415	D	0.946034	D;B	0.59357	0.985;0.318	P;B	0.53593	0.73;0.109	T	0.44329	-0.9335	10	0.37606	T	0.19	-0.2984	10.4292	0.44398	0.0:0.8385:0.0:0.1615	.	534;534	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	M	534	ENSP00000359788:T534M	ENSP00000359788:T534M	T	+	2	0	DDX26B	134535624	0.937000	0.31787	0.334000	0.25495	0.983000	0.72400	2.049000	0.41288	0.516000	0.28340	-0.192000	0.12808	ACG		0.358	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		5	60	0	0	0	1	0	5	60					T	134707958	C	T	134707958	3	4	450	1	0	0	0	0	1	0	0	0	4353	536	19	1	1647	1	DDX26B	23	134707958	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	3359676	134707958	20562602	65	37775											
OPN1MW	2652	broad.mit.edu	37	chrX	153459015	153459015	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggggaccatacgccttcttCgcatgctttgctgctgccaa	10	13	1	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153459015C>T	ENST00000369935.5	+	5	921	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	287					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)					ACGCCTTCTTCGCATGCTTTG	0.562																																						ENST00000369935.5																			0				endometrium(1)|lung(1)	2						c.(859-861)ttC>ttT		opsin 1 (cone pigments), medium-wave-sensitive							219	236	231					X																	153459015		1580	3879	5459	SO:0001819	synonymous_variant	2652				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153459015C>T	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.861C>T	X.37:g.153459015C>T							p.F287F	NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN			5	921	+	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)		287						Silent	SNP	ENST00000369935.5	37	c.861C>T	CCDS14743.1																																																																																				0.562	OPN1MW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058771.3	NM_000513		18	153	0	0	0	1	0	18	153					T	153459015	C	T	153459015	2	4	450	1	0	0	0	0	0	0	0	1	10878	883	31	1		1	OPN1MW	23	153459015	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	18751057	153459015	1811545	66	37776											
TAZ	1774	broad.mit.edu	37	chrX	153641818	153641818	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgcatctgtccctgcttaGgacccctgcagctgcagaca	9	14	1	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153641818G>T	ENST00000393638.1	-	0	0				TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000475699.1_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000350743.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site|TAZ_ENST00000299328.5_Splice_Site|DNASE1L1_ENST00000369809.1_5'Flank	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(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)					TCCCTGCTTAGGACCCCTGCA	0.622																																						ENST00000299328.5																			0				lung(1)	1						c.e4-1		tafazzin							107	82	91					X																	153641818		2203	4300	6503	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153641818G>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153641818G>T	Exception_encountered					TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000350743.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site		NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			4	573	+	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)							D3DWW7|Q5HY41	Splice_Site	SNP	ENST00000393638.1	37		CCDS14747.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.644167	0.67244	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2938	0.82761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAZ	153295012	1.000000	0.71417	0.994000	0.49952	0.760000	0.43138	8.814000	0.91968	2.452000	0.82932	0.591000	0.81541	.		0.622	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			31	68	1	0	3.03874e-20	1	3.40339e-20	31	68					T	153641818	G	T	153641818	1	4	450	0	1	0	0	0	0	0	0	0	15593	1014	35	4		4	TAZ	23	153641818	5'Flank	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	182803	153641818	1628742	67	37777											
NECAP2	55707	broad.mit.edu	37	chr1	16767279	16767279	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggaggagagcgggtacgagtCggtgctctgtgtcaagcctg	18	8	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:16767279C>G	ENST00000337132.5	+	1	113	c.23C>G	c.(22-24)tCg>tGg	p.S8W	NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000457722.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	8					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		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;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTACGAGTCGGTGCTCTGT	0.652											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337132.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(22-24)tCg>tGg		NECAP endocytosis associated 2							137	110	119					1																	16767279		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16767279C>G	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.23C>G	1.37:g.16767279C>G	ENSP00000338746:p.Ser8Trp		OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	712	NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR	p.S8W	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	1	113	+		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)	8					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.23C>G	CCDS173.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872894	0.72180	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T	0.46819	0.86;1.34;0.86;0.86;0.86	5.74	5.74	0.90152	.	0.066293	0.64402	D	0.000005	T	0.74574	0.3734	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76069	-0.3094	10	0.38643	T	0.18	-14.0913	17.4128	0.87491	0.0:1.0:0.0:0.0	.	8;8	Q9NVZ3-2;Q9NVZ3	.;NECP2_HUMAN	W	8	ENSP00000338746:S8W;ENSP00000424509:S8W;ENSP00000383925:S8W;ENSP00000391942:S8W;ENSP00000427620:S8W	ENSP00000263498:S8W	S	+	2	0	NECAP2	16639866	1.000000	0.71417	0.987000	0.45799	0.075000	0.17131	6.669000	0.74462	2.712000	0.92718	0.561000	0.74099	TCG		0.652	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		14	33	0	0	0	1	0	14	33					G	16767279	C	G	16767279	3	3	451	1	0	0	0	0	1	0	0	0	10308	893	31	4	25	4	NECAP2	1	16767279	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		16767279	232483342	1	37778											
FCN3	8547	broad.mit.edu	37	chr1	27697141	27697141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtagtggtctacctcacCgaggaggcggaaggtcgcat	15	10	2	0	rs200179996		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:27697141C>T	ENST00000270879.4	-	7	609	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	FCN3_ENST00000354982.2_Missense_Mutation_p.G191S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	202	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACCTCACCGAGGAGGCGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.001		0.0	False		,,,				2504	0.0					ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(604-606)Ggt>Agt		ficolin (collagen/fibrinogen domain containing) 3							133	133	133					1																	27697141		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697141C>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"Fibrinogen C domain containing"	3625	protein-coding gene	gene with protein product	"Hakata antigen"	604973	"ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.604G>A	1.37:g.27697141C>T	ENSP00000270879:p.Gly202Ser					FCN3_ENST00000354982.2_Missense_Mutation_p.G191S	p.G202S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	7	609	-		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)	202			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.604G>A	CCDS300.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.23	1.578434	0.28180	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.18960	2.18;2.18	4.62	0.448	0.16614	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.48286	D	0.000186	T	0.06462	0.0166	N	0.04387	-0.21	0.09310	N	1	P;P	0.46578	0.805;0.88	B;B	0.39840	0.298;0.311	T	0.34329	-0.9833	10	0.12103	T	0.63	.	4.9767	0.14144	0.1513:0.5846:0.0:0.2642	.	191;202	Q6UXM4;O75636	.;FCN3_HUMAN	S	202;191;80	ENSP00000270879:G202S;ENSP00000347077:G191S	ENSP00000270879:G202S	G	-	1	0	FCN3	27569728	0.000000	0.05858	0.019000	0.16419	0.051000	0.14879	0.087000	0.14958	0.247000	0.21414	0.558000	0.71614	GGT		0.577	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			5	100	0	0	0	1	0	5	100					T	27697141	C	T	27697141	3	4	451	1	0	0	0	0	1	0	0	0	5793	652	23	1	303	1	FCN3	1	27697141	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	10929862	27697141	221553480	2	37779											
FUBP1	8880	broad.mit.edu	37	chr1	78426109	78426111	+	In_Frame_Del	DEL	AGG	AGG	-													gttccaggccctggaggcccAggaggtccatgggggcctgg							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78426109_78426111delAGG	ENST00000370768.2	-	15	1495_1497	c.1414_1416delCCT	c.(1414-1416)cctdel	p.P472del	FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del|FUBP1_ENST00000370767.1_In_Frame_Del_p.P472del	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	472	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGGAGGCCCAGGAGGTCCATGG	0.542			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1414-1416)del		far upstream element (FUSE) binding protein 1																																				SO:0001651	inframe_deletion	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78426109_78426111delAGG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1414_1416delCCT	1.37:g.78426112_78426114delAGG	ENSP00000359804:p.Pro472del					FUBP1_ENST00000370768.2_In_Frame_Del_p.P472del|FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del	p.P472del			Q96AE4	FUBP1_HUMAN			15	1501_1503	-			472			Pro-rich.		Q12828	In_Frame_Del	DEL	ENST00000370768.2	37	c.1414_1416delCCT	CCDS683.1																																																																																				0.542	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		12	9						12	9	---	---	---	---	-	78426111	AGG	-	78426109	7	5	451	1	0	1	0	1	0	0	0	0	6092	175	7	0	542	0	FUBP1	1	78426109	In_Frame_Del	DEL	AGG	TCGA-S9-A7QZ-01A-12D-A34J-08	50728968	78426109	170824512	3	37780											
FUBP1	8880	broad.mit.edu	37	chr1	78430386	78430386	+	Frame_Shift_Del	DEL	A	A	-													actcattccgaacttctctgAaaccgccttgatcacgaatt							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78430386delA	ENST00000370768.2	-	10	863	c.782delT	c.(781-783)ttcfs	p.F261fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.F261fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	261					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AACTTCTCTGAAACCGCCTTG	0.348			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(781-783)tcfs		far upstream element (FUSE) binding protein 1							144	145	145					1																	78430386		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430386delA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.782delT	1.37:g.78430386delA	ENSP00000359804:p.Phe261fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F261fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs	p.F261fs			Q96AE4	FUBP1_HUMAN			10	869	-			261					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.782delT	CCDS683.1																																																																																				0.348	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		17	108						17	108	---	---	---	---	-	78430386	A	-	78430386	7	5	451	1	0	1	0	1	0	0	0	0	6092	246	9	0	1196	0	FUBP1	1	78430386	Frame_Shift_Del	DEL	A	TCGA-S9-A7QZ-01A-12D-A34J-08	4277	78430386	170820235	4	37781											
CLCA1	1179	broad.mit.edu	37	chr1	86959231	86959231	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcaaggtggctttgtAgtggacaaaaacaccaaaat	10	7	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:86959231A>T	ENST00000234701.3	+	11	1980	c.1629A>T	c.(1627-1629)gtA>gtT	p.V543V	CLCA1_ENST00000394711.1_Silent_p.V543V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	543					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGGCTTTGTAGTGGACAAAA	0.443																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1627-1629)gtA>gtT		chloride channel accessory 1							116	103	107					1																	86959231		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959231A>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1629A>T	1.37:g.86959231A>T						CLCA1_ENST00000394711.1_Silent_p.V543V	p.V543V			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	11	1980	+		Lung NSC(277;0.239)	543					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1629A>T	CCDS709.1																																																																																				0.443	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		16	23	0	0	0	1	0	16	23					T	86959231	A	T	86959231	2	4	451	1	0	0	0	0	0	0	0	1	3457	407	15	5		5	CLCA1	1	86959231	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	8528845	86959231	162291390	5	37782											
SLC35A3	23443	broad.mit.edu	37	chr1	100480866	100480866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttttttaggtttctttGgaagtatatttggattaatg	8	2	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:100480866G>A	ENST00000370155.3	+	6	1035	c.643G>A	c.(643-645)Gga>Aga	p.G215R	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	215					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGGTTTCTTTGGAAGTATATT	0.303																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(643-645)Gga>Aga		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							70	75	73					1																	100480866		2201	4299	6500	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100480866G>A	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.643G>A	1.37:g.100480866G>A	ENSP00000359174:p.Gly215Arg					SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000465289.1_Intron	p.G215R	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	6	1035	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	215					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.643G>A	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946028	0.92593	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.28	5.28	0.74379	.	0.094982	0.64402	D	0.000001	T	0.78723	0.4328	H	0.95114	3.625	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.71414	0.954;0.973	D	0.84949	0.0870	10	0.72032	D	0.01	-18.0897	18.882	0.92358	0.0:0.0:1.0:0.0	.	256;215	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	R	215;215;257;215	ENSP00000359174:G215R;ENSP00000414947:G215R;ENSP00000359172:G257R;ENSP00000401679:G215R	ENSP00000359172:G257R	G	+	1	0	SLC35A3	100253454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.362000	0.73077	2.630000	0.89119	0.655000	0.94253	GGA		0.303	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		25	22	0	0	0	1	0	25	22					A	100480866	G	A	100480866	3	1	451	1	0	0	0	0	1	0	0	0	14572	1349	47	2	661	2	SLC35A3	1	100480866	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	13521635	100480866	148769755	6	37783											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccttgcctgaatggcgGcacatgccatatgctcagcc	10	14	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532																																						ENST00000369340.3																			2	Substitution - Missense(2)	p.G80D(2)	prostate(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(238-240)gGc>gAc		notch 2 N-terminal like							402	370	381					1																	145273385		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273385G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.239G>A	1.37:g.145273385G>A	ENSP00000358346:p.Gly80Asp					RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D	p.G80D			Q7Z3S9	NT2NL_HUMAN			4	683	+			80			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.239G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834089	0.50951	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.97480	-4.4;-4.4;-4.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98216	0.9410	M	0.90145	3.09	0.38396	D	0.945546	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98847	1.0757	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	80;80	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	D	80	ENSP00000354929:G80D;ENSP00000344557:G80D;ENSP00000358346:G80D	ENSP00000344557:G80D	G	+	2	0	NOTCH2NL	143984742	1.000000	0.71417	0.997000	0.53966	0.256000	0.26092	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	GGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		6	386	0	0	0	1	0	6	386					A	145273385	G	A	145273385	3	1	451	1	0	0	0	0	1	0	0	0	10549	1203	42	2	245	2	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	44792519	145273385	103977236	7	37784											
NTRK1	4914	broad.mit.edu	37	chr1	156844179	156844181	+	In_Frame_Del	DEL	CTT	CTT	-													ctccctcctgctgcagtctcCttctcgccggtgggtgagta							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:156844179_156844181delCTT	ENST00000524377.1	+	9	1223_1225	c.1182_1184delCTT	c.(1180-1185)tccttc>tcc	p.F395del	NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	395					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGCAGTCTCCTTCTCGCCGGTG	0.601			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000524377.1				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1180-1185)tcc>tc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)		,,	1,4265		0,1,2132					,,	4.8	1			176	6,8246		3,0,4123	no	coding,intron,intron	NTRK1	NM_002529.3,NM_001012331.1,NM_001007792.1	,,	3,1,6255	A1A1,A1R,RR		0.0727,0.0234,0.0559	,,	,,		7,12511				SO:0001651	inframe_deletion	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156844179_156844181delCTT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1182_1184delCTT	1.37:g.156844179_156844181delCTT	ENSP00000431418:p.Phe395del	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000358660.3_Intron	p.SF394del	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN			9	1223_1225	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		394					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	In_Frame_Del	DEL	ENST00000524377.1	37	c.1182_1184delCTT	CCDS1161.1																																																																																				0.601	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	195						12	195	---	---	---	---	-	156844181	CTT	-	156844179	7	5	451	1	0	1	0	1	0	0	0	0	10706	668	24	0	1346	0	NTRK1	1	156844179	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	11570794	156844179	92406442	8	37785											
ATP1B1	481	broad.mit.edu	37	chr1	169100780	169100784	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-													acgttttgatgtaaaaattgAagttaagagctgatcacaag							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:169100780_169100784delAAGTT	ENST00000367816.1	+	7	1428_1432	c.899_903delAAGTT	c.(898-903)gaagttfs	p.EV300fs	ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000367815.4_Frame_Shift_Del_p.EV300fs|ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	300	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTAAAAATTGAAGTTAAGAGCTGAT	0.371																																						ENST00000367816.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14						c.(898-903)gfs		ATPase, Na+/K+ transporting, beta 1 polypeptide																																				SO:0001589	frameshift_variant	481				ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:169100780_169100784delAAGTT	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.899_903delAAGTT	1.37:g.169100780_169100784delAAGTT	ENSP00000356790:p.Glu300fs					ATP1B1_ENST00000367815.3_Frame_Shift_Del_p.EV300fs|ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs	p.EV300fs			P05026	AT1B1_HUMAN			7	1428_1432	+	all_hematologic(923;0.208)		300					Q5TGZ3	Frame_Shift_Del	DEL	ENST00000367816.1	37	c.899_903delAAGTT	CCDS1276.1																																																																																				0.371	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			11	97						11	97	---	---	---	---	-	169100784	AAGTT	-	169100780	7	5	451	1	0	1	0	1	0	0	0	0	1132	246	9	0	921	0	ATP1B1	1	169100780	Frame_Shift_Del	DEL	AAGTT	TCGA-S9-A7QZ-01A-12D-A34J-08	12256601	169100780	80149841	9	37786											
CACNA1S	779	broad.mit.edu	37	chr1	201010635	201010635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagaagggactgacccaGgaccctgcagggttggccaa	14	12	0	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:201010635G>A	ENST00000362061.3	-	41	5357	c.5131C>T	c.(5131-5133)Ctg>Ttg	p.L1711L	CACNA1S_ENST00000367338.3_Silent_p.L1692L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1711					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)	GACTGACCCAGGACCCTGCAG	0.557																																						ENST00000362061.3																			0				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						c.(5131-5133)Ctg>Ttg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						65	59	61					1																	201010635		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201010635G>A	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.5131C>T	1.37:g.201010635G>A						RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.L1692L	p.L1711L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			41	5357	-			1711					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.5131C>T	CCDS1407.1																																																																																				0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		9	31	0	0	0	1	0	9	31					A	201010635	G	A	201010635	2	1	451	1	0	0	0	0	0	0	0	1	2547	991	35	2		2	CACNA1S	1	201010635	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	31909855	201010635	48239986	10	37787											
SYT2	127833	broad.mit.edu	37	chr1	202568405	202568407	+	In_Frame_Del	DEL	TCT	TCT	-													gttgaagtatgggttcagggTcttcttcttcacggttgtct							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:202568405_202568407delTCT	ENST00000367267.1	-	8	1184_1186	c.992_994delAGA	c.(991-996)aagacc>acc	p.K331del	SYT2_ENST00000367268.4_In_Frame_Del_p.K331del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	331	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGGTTCAGGGTCTTCTTCTTCAC	0.542																																						ENST00000367267.1																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(991-996)acc>a		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202568405_202568407delTCT	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.992_994delAGA	1.37:g.202568411_202568413delTCT	ENSP00000356236:p.Lys331del					SYT2_ENST00000367268.4_In_Frame_Del_p.KT331del	p.KT331del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		8	1184_1186	-			331			C2 2.|Phospholipid binding (By similarity).		Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.992_994delAGA	CCDS1427.1																																																																																				0.542	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		10	133						10	133	---	---	---	---	-	202568407	TCT	-	202568405	7	5	451	1	0	1	0	1	0	0	0	0	15471	1667	58	0	273	0	SYT2	1	202568405	In_Frame_Del	DEL	TCT	TCGA-S9-A7QZ-01A-12D-A34J-08	1557770	202568405	46682216	11	37788											
INTS7	25896	broad.mit.edu	37	chr1	212118272	212118272	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggttattctggacagcaaTgggctctgcaggattccggg	14	9	2	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:212118272T>A	ENST00000366994.3	-	19	2559	c.2455A>T	c.(2455-2457)Att>Ttt	p.I819F	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F|INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F	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	819					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)		TGGACAGCAATGGGCTCTGCA	0.507																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2455-2457)Att>Ttt		integrator complex subunit 7							87	81	83					1																	212118272		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118272T>A	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.2455A>T	1.37:g.212118272T>A	ENSP00000355961:p.Ile819Phe					INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F	p.I819F	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2559	-			819					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2455A>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997326	0.93167	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.56941	0.46;0.43;0.47;0.46	5.49	5.49	0.81192	.	0.046134	0.85682	D	0.000000	T	0.68403	0.2997	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.986;0.986;0.986;0.991	T	0.71586	-0.4548	10	0.87932	D	0	-20.4816	15.5835	0.76465	0.0:0.0:0.0:1.0	.	770;799;805;819	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	F	819;805;799;770	ENSP00000355961:I819F;ENSP00000355960:I805F;ENSP00000355959:I799F;ENSP00000388908:I770F	ENSP00000355959:I799F	I	-	1	0	INTS7	210184895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.593000	0.61034	2.090000	0.63153	0.533000	0.62120	ATT		0.507	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		10	96	0	0	0	1	0	10	96					A	212118272	T	A	212118272	3	1	451	1	0	0	0	0	1	0	0	0	7783	1464	51	5	441	5	INTS7	1	212118272	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	9549867	212118272	37132349	12	37789											
ZP4	57829	broad.mit.edu	37	chr1	238050813	238050813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggcgaggtcacgttcCgagacacagcaatagagaaa	14	8	1	2	rs141095443	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:238050813C>T	ENST00000366570.4	-	5	760	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	201	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCACGTTCCGAGACACAGC	0.532													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		22801	0.0		0.0	False		,,,				2504	0.0				NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(601-603)cGg>cAg		zona pellucida glycoprotein 4		C	GLN/ARG	16,4390	22.3+/-47.3	0,16,2187	140	124	129		602	2.8	0.9	1	dbSNP_134	129	0,8600		0,0,4300	yes	missense	ZP4	NM_021186.3	43	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	possibly-damaging	201/541	238050813	16,12990	2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050813C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.602G>A	1.37:g.238050813C>T	ENSP00000355529:p.Arg201Gln					RP11-193H5.1_ENST00000450451.1_RNA	p.R201Q	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	760	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	201			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.602G>A	CCDS1615.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.30	2.195848	0.38806	0.003631	0.0	ENSG00000116996	ENST00000366570	D	0.82526	-1.62	4.86	2.81	0.32909	Zona pellucida sperm-binding protein (3);	0.149436	0.41500	D	0.000866	T	0.76378	0.3979	L	0.56396	1.775	0.28751	N	0.90145	B	0.32128	0.357	B	0.34301	0.179	T	0.67768	-0.5585	10	0.40728	T	0.16	-18.2754	4.76	0.13102	0.0:0.4404:0.0:0.5596	.	201	Q12836	ZP4_HUMAN	Q	201	ENSP00000355529:R201Q	ENSP00000355529:R201Q	R	-	2	0	ZP4	236117436	0.000000	0.05858	0.891000	0.34965	0.787000	0.44495	-0.322000	0.08007	0.458000	0.26988	0.655000	0.94253	CGG		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			21	77	0	0	0	1	0	21	77					T	238050813	C	T	238050813	3	4	451	1	0	0	0	0	1	0	0	0	18215	652	23	1	1052	1	ZP4	1	238050813	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	25932541	238050813	11199808	13	37790											
SLC4A5	57835	broad.mit.edu	37	chr2	74477594	74477594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatcatagaagtcacttGggaaccagggcaacttcctc	9	12	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:74477594G>A	ENST00000377634.4	-	17	1928	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P510L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L					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						GAAGTCACTTGGGAACCAGGG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394019.2																			0				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						c.(1528-1530)cCa>cTa		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							185	174	178					2																	74477594		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477594G>A	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.1529C>T	2.37:g.74477594G>A	ENSP00000366861:p.Pro510Leu		OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P510L	p.P510L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			17	1926	-			510						Missense_Mutation	SNP	ENST00000377634.4	37	c.1529C>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	4.551	0.102225	0.08731	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.54	-0.0926	0.13656	Bicarbonate transporter, C-terminal (1);	0.582590	0.19781	N	0.106207	T	0.48466	0.1501	N	0.04636	-0.2	0.44635	D	0.997617	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.001;0.007;0.003;0.003;0.002	T	0.37934	-0.9684	10	0.06236	T	0.91	.	9.0447	0.36338	0.4809:0.0:0.5191:0.0	.	510;510;446;510;510	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	L	510;510;510;446;510;446;510;510;510;510	ENSP00000377587:P510L;ENSP00000251768:P510L;ENSP00000352461:P446L;ENSP00000395804:P510L;ENSP00000351513:P446L;ENSP00000350475:P510L;ENSP00000366859:P510L;ENSP00000366861:P510L;ENSP00000405678:P510L	ENSP00000251768:P510L	P	-	2	0	SLC4A5	74331102	0.891000	0.30450	0.950000	0.38849	0.999000	0.98932	1.314000	0.33597	-0.195000	0.10382	0.655000	0.94253	CCA		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			12	166	0	0	0	1	0	12	166					A	74477594	G	A	74477594	3	1	451	1	0	0	0	0	1	0	0	0	14657	1348	47	2	1944	2	SLC4A5	2	74477594	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		74477594	168721779	14	37791											
SLC20A1	6574	broad.mit.edu	37	chr2	113418740	113418740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagtattgaactggcAtctgccctcactgtggtgat	11	10	3	2	rs545904103		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:113418740A>G	ENST00000272542.3	+	10	2354	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	605					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTGAACTGGCATCTGCCCTCA	0.403																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1813-1815)gcA>gcG		solute carrier family 20 (phosphate transporter), member 1							145	127	133					2																	113418740		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113418740A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1815A>G	2.37:g.113418740A>G							p.A605A	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			10	2354	+			605					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1815A>G	CCDS2099.1																																																																																				0.403	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		11	79	0	0	0	1	0	11	79					G	113418740	A	G	113418740	2	3	451	1	0	0	0	0	0	0	0	1	14438	204	8	3		3	SLC20A1	2	113418740	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	38941146	113418740	129780633	15	37792											
ANKAR	150709	broad.mit.edu	37	chr2	190541787	190541788	+	Frame_Shift_Del	DEL	AA	AA	-													atggaaaacctcaaacaaatAaagacattttttcagagttt					rs141582205	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:190541787_190541788delAA	ENST00000520309.1	+	2	659_660	c.571_572delAA	c.(571-573)aaafs	p.K191fs	ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	191						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)			TCAAACAAATAAAGACATTTTT	0.351																																						ENST00000520309.1																			0				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						c.(571-573)afs		ankyrin and armadillo repeat containing																																				SO:0001589	frameshift_variant	150709					integral to membrane	binding	g.chr2:190541787_190541788delAA	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.571_572delAA	2.37:g.190541787_190541788delAA	ENSP00000427882:p.Lys191fs					ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000461516.1_Intron	p.K191fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	659_660	+			191					Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	c.571_572delAA	CCDS33351.2																																																																																				0.351	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		15	66						15	66	---	---	---	---	-	190541788	AA	-	190541787	7	5	451	1	0	1	0	1	0	0	0	0	623	363	13	0	573	0	ANKAR	2	190541787	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08	77123047	190541787	52657586	16	37793											
MDH1B	130752	broad.mit.edu	37	chr2	207621661	207621661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggttgatgcaagttttcAgggcttcttcctcctgctct	11	10	3	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:207621661A>G	ENST00000374412.3	-	4	649	c.374T>C	c.(373-375)cTg>cCg	p.L125P	MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P|MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	125					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GCAAGTTTTCAGGGCTTCTTC	0.428																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(373-375)cTg>cCg		malate dehydrogenase 1B, NAD (soluble)							115	105	109					2																	207621661		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621661A>G		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.374T>C	2.37:g.207621661A>G	ENSP00000363533:p.Leu125Pro					MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P|MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P	p.L125P	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	4	649	-			125					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.374T>C	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753793	0.31046	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.61392	0.11;0.81;0.11;0.11	6.08	-0.973	0.10297	.	0.849924	0.10644	N	0.650714	T	0.46776	0.1410	L	0.56769	1.78	0.09310	N	0.999994	B;B	0.31274	0.317;0.212	B;B	0.30572	0.117;0.055	T	0.46610	-0.9179	10	0.72032	D	0.01	-1.3419	2.9275	0.05788	0.4757:0.2441:0.0621:0.2182	.	125;125	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	P	125;27;125;125	ENSP00000363533:L125P;ENSP00000416577:L27P;ENSP00000389916:L125P;ENSP00000376049:L125P	ENSP00000363533:L125P	L	-	2	0	MDH1B	207329906	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	0.111000	0.15458	-0.072000	0.12864	0.533000	0.62120	CTG		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		16	89	0	0	0	1	0	16	89					G	207621661	A	G	207621661	3	3	451	1	0	0	0	0	1	0	0	0	9409	188	7	3	1218	3	MDH1B	2	207621661	Missense_Mutation	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	17079874	207621661	35577712	17	37794											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			45	70	0	0	0	1	0	45	70					T	209113112	C	T	209113112	3	4	451	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1491451	209113112	34086261	18	37795											
COL6A3	1293	broad.mit.edu	37	chr2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggacgccctcttcaatgCggctccccaggggcctcttg	13	16	3	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7. {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)		CTCTTCAATGCGGCTCCCCAG	0.632																																						ENST00000295550.4																			0				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						c.(3991-3993)cGc>cAc		collagen, type VI, alpha 3							32	31	32					2																	238280668		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280668C>T	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.3992G>A	2.37:g.238280668C>T	ENSP00000295550:p.Arg1331His					COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H	p.R1331H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	9	4444	-		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)	1331			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3992G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228028	0.95173	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.84	5.84	0.93424	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000053	D	0.85305	0.5666	H	0.96748	3.875	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;1.0;1.0;1.0	D	0.89189	0.3549	10	0.66056	D	0.02	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	724;924;1125;1125;1331	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1331;1130;1125;724;1125;1131;1125;924	ENSP00000295550:R1331H;ENSP00000315609:R1130H;ENSP00000315873:R1125H;ENSP00000418285:R724H;ENSP00000386844:R1125H;ENSP00000295546:R1131H;ENSP00000375861:R1125H;ENSP00000375860:R924H	ENSP00000295550:R1331H	R	-	2	0	COL6A3	237945407	1.000000	0.71417	0.983000	0.44433	0.690000	0.40134	6.024000	0.70857	2.765000	0.95021	0.655000	0.94253	CGC		0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	46	0	0	0	1	0	11	46					T	238280668	C	T	238280668	3	4	451	1	0	0	0	0	1	0	0	0	3701	768	27	1	5732	1	COL6A3	2	238280668	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	29167556	238280668	4918705	19	37796											
COL7A1	1294	broad.mit.edu	37	chr3	48602392	48602392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtgcaggagccctcaTccagtggcagggaacagggg	17	10	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:48602392T>C	ENST00000328333.8	-	117	8749	c.8642A>G	c.(8641-8643)gAt>gGt	p.D2881G	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2881	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|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)		GGAGCCCTCATCCAGTGGCAG	0.612																																						ENST00000328333.8																			0				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						c.(8641-8643)gAt>gGt		collagen, type VII, alpha 1							73	74	74					3																	48602392		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48602392T>C	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.8642A>G	3.37:g.48602392T>C	ENSP00000332371:p.Asp2881Gly					COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G	p.D2881G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	117	8749	-			2881			BPTI/Kunitz inhibitor.|Nonhelical region (NC2).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8642A>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885505	0.33255	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.61040	0.14;0.14	5.25	5.25	0.73442	Proteinase inhibitor I2, Kunitz metazoa (5);	0.144445	0.30742	N	0.008976	T	0.75034	0.3795	M	0.81179	2.53	0.39309	D	0.965045	D	0.76494	0.999	D	0.72338	0.977	T	0.76266	-0.3022	10	0.31617	T	0.26	.	13.996	0.64402	0.0:0.0:0.0:1.0	.	2881	Q02388	CO7A1_HUMAN	G	2881;2849	ENSP00000332371:D2881G;ENSP00000412569:D2849G	ENSP00000332371:D2881G	D	-	2	0	COL7A1	48577396	1.000000	0.71417	0.998000	0.56505	0.761000	0.43186	4.325000	0.59234	2.000000	0.58554	0.383000	0.25322	GAT		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	81	0	0	0	1	0	4	81					C	48602392	T	C	48602392	3	2	451	1	0	0	0	0	1	0	0	0	3704	1435	50	3	200	3	COL7A1	3	48602392	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		48602392	149420038	20	37797											
ARL6	84100	broad.mit.edu	37	chr3	97486990	97486992	+	In_Frame_Del	DEL	GAA	GAA	-													ctttcagtcttgcttggcctGaagaagaaggaggttcatgt							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:97486990_97486992delGAA	ENST00000463745.1	+	2	516_518	c.39_41delGAA	c.(37-42)ctgaag>ctg	p.K16del	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_In_Frame_Del_p.K16del|ARL6_ENST00000335979.2_In_Frame_Del_p.K16del	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	16					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TGCTTGGCCTGAAGAAGAAGGAG	0.35																																						ENST00000463745.1																			0				large_intestine(1)|lung(4)	5						c.(37-42)ctg>ct		ADP-ribosylation factor-like 6																																				SO:0001651	inframe_deletion	84100				cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97486990_97486992delGAA	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.39_41delGAA	3.37:g.97486996_97486998delGAA	ENSP00000419619:p.Lys16del					ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_In_Frame_Del_p.LK13del|ARL6_ENST00000394206.1_In_Frame_Del_p.LK13del	p.LK13del	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	2	516_518	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	13					A8KA93|D3DN31	In_Frame_Del	DEL	ENST00000463745.1	37	c.39_41delGAA	CCDS2928.1																																																																																				0.35	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		10	168						10	168	---	---	---	---	-	97486992	GAA	-	97486990	7	5	451	1	0	1	0	1	0	0	0	0	941	1277	45	0	41	0	ARL6	3	97486990	In_Frame_Del	DEL	GAA	TCGA-S9-A7QZ-01A-12D-A34J-08	48884598	97486990	100535440	21	37798											
RG9MTD1	54931	broad.mit.edu	37	chr3	101283849	101283851	+	In_Frame_Del	DEL	AAG	AAG	-													taccatgaaatctagtgtgcAagaagaatgtgtttcaacaa							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:101283849_101283851delAAG	ENST00000309922.6	+	2	378_380	c.224_226delAAG	c.(223-228)caagaa>caa	p.E77del		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	77					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCTAGTGTGCAAGAAGAATGTGT	0.419																																						ENST00000309922.6																			0											c.(223-228)caa>c		tRNA methyltransferase 10 homolog C (S. cerevisiae)																																				SO:0001651	inframe_deletion	54931							g.chr3:101283849_101283851delAAG	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.224_226delAAG	3.37:g.101283852_101283854delAAG	ENSP00000312356:p.Glu77del						p.QE75del	NM_017819.2	NP_060289.2					2	378_380	+								Q9NRG5|Q9NX54|Q9Y596	In_Frame_Del	DEL	ENST00000309922.6	37	c.224_226delAAG	CCDS43122.1																																																																																				0.419	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		24	140						24	140	---	---	---	---	-	101283851	AAG	-	101283849	7	5	451	1	0	1	0	1	0	0	0	0	13271	130	5	0	226	0	RG9MTD1	3	101283849	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	3796859	101283849	96738581	22	37799											
DIRC2	84925	broad.mit.edu	37	chr3	122578991	122578991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgggagctacactgtcAtccacgtggttcaccctgac	9	13	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:122578991A>G	ENST00000261038.5	+	7	1478	c.1080A>G	c.(1078-1080)tcA>tcG	p.S360S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	360					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)		CTACACTGTCATCCACGTGGT	0.378																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(1078-1080)tcA>tcG		disrupted in renal carcinoma 2							138	127	131					3																	122578991		2203	4300	6503	SO:0001819	synonymous_variant	84925				transport	integral to membrane		g.chr3:122578991A>G	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.1080A>G	3.37:g.122578991A>G							p.S360S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	7	1478	+			360					A8K561|Q8NBX9	Silent	SNP	ENST00000261038.5	37	c.1080A>G	CCDS3018.1																																																																																				0.378	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		41	85	0	0	0	1	0	41	85					G	122578991	A	G	122578991	2	3	451	1	0	0	0	0	0	0	0	1	4534	204	8	3		3	DIRC2	3	122578991	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	21295142	122578991	75443439	23	37800											
ATR	545	broad.mit.edu	37	chr3	142281276	142281276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacatgacacagagttttTccagcagcatatttaaatag	6	8	0	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:142281276T>C	ENST00000350721.4	-	4	1089	c.968A>G	c.(967-969)gAa>gGa	p.E323G	ATR_ENST00000383101.3_Missense_Mutation_p.E323G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	323					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)			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						ACAGAGTTTTTCCAGCAGCAT	0.368								Other conserved DNA damage response genes																														ENST00000350721.4																			0				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						c.(967-969)gAa>gGa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							80	86	84					3																	142281276		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281276T>C	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.968A>G	3.37:g.142281276T>C	ENSP00000343741:p.Glu323Gly					ATR_ENST00000383101.3_Missense_Mutation_p.E323G	p.E323G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	1089	-			323					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.968A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998346	0.74818	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.66638	-0.22;-0.22	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	D	0.000011	T	0.73094	0.3543	L	0.29908	0.895	0.30661	N	0.75435	D	0.76494	0.999	D	0.80764	0.994	T	0.75323	-0.3358	10	0.87932	D	0	-12.4333	15.1229	0.72460	0.0:0.0:0.0:1.0	.	323	Q13535	ATR_HUMAN	G	323;323;4	ENSP00000343741:E323G;ENSP00000372581:E323G	ENSP00000343741:E323G	E	-	2	0	ATR	143763966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.552000	0.60747	1.978000	0.57642	0.482000	0.46254	GAA		0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	114	0	0	0	1	0	12	114					C	142281276	T	C	142281276	3	2	451	1	0	0	0	0	1	0	0	0	1204	1783	62	3	7142	3	ATR	3	142281276	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	19702285	142281276	55741154	24	37801											
THPO	7066	broad.mit.edu	37	chr3	184093747	184093747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcacaagcaggaggagCcgggctggacagcgttagcc	17	10	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:184093747C>T	ENST00000204615.7	-	3	284	c.70G>A	c.(70-72)Gct>Act	p.A24T	THPO_ENST00000445696.2_Missense_Mutation_p.A24T|THPO_ENST00000421442.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'Flank	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	24					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGAGGAGCCGGGCTGGAC	0.507																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(70-72)Gct>Act		thrombopoietin							113	103	107					3																	184093747		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184093747C>T		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"Endogenous ligands"	11795	protein-coding gene	gene with protein product	"prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1"	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.70G>A	3.37:g.184093747C>T	ENSP00000204615:p.Ala24Thr					THPO_ENST00000421442.2_Missense_Mutation_p.A24T|THPO_ENST00000445696.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron	p.A24T	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	284	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		24					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.70G>A	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719829	0.68844	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000421442;ENST00000353488	T;T;T	0.50548	0.74;0.74;0.74	4.19	4.19	0.49359	Erythropoietin/thrombopoeitin, conserved site (1);Four-helical cytokine, core (1);	0.505548	0.16754	N	0.200929	T	0.50616	0.1626	N	0.19112	0.55	0.28248	N	0.925393	P;P;P;D;P;P	0.67145	0.943;0.59;0.643;0.996;0.932;0.945	P;B;B;D;P;P	0.73708	0.591;0.201;0.303;0.981;0.558;0.685	T	0.39702	-0.9601	10	0.34782	T	0.22	-1.3724	11.8723	0.52527	0.0:1.0:0.0:0.0	.	24;24;24;24;24;24	Q5FBX4;P40225-3;Q5FBX8;F8W6L1;P40225-2;P40225	.;.;.;.;.;TPO_HUMAN	T	24	ENSP00000204615:A24T;ENSP00000410763:A24T;ENSP00000411704:A24T	ENSP00000204615:A24T	A	-	1	0	THPO	185576441	0.957000	0.32711	0.996000	0.52242	0.984000	0.73092	2.104000	0.41815	2.157000	0.67596	0.467000	0.42956	GCT		0.507	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		4	74	0	0	0	1	0	4	74					T	184093747	C	T	184093747	3	4	451	1	0	0	0	0	1	0	0	0	15869	739	26	2	1007	2	THPO	3	184093747	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	41812471	184093747	13928683	25	37802											
ATP13A5	344905	broad.mit.edu	37	chr3	193002701	193002702	+	Splice_Site	DEL	AC	AC	-													aaattaaactttatatacttAcagtttgtatagatgggttt							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:193002701_193002702delAC	ENST00000342358.4	-	27	3344		c.e27+1		ATP13A5_ENST00000495496.1_Splice_Site	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5							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)		TTATATACTTACAGTTTGTATA	0.396																																						ENST00000342358.4																			0				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						c.e27+1		ATPase type 13A5																																				SO:0001630	splice_region_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193002701_193002702delAC	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.3226+1GT>-	3.37:g.193002701_193002702delAC						ATP13A5_ENST00000495496.1_Splice_Site		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	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)	27	3344	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)							Q6UWS4|Q6ZWL0	Splice_Site	DEL	ENST00000342358.4	37		CCDS33914.1																																																																																				0.396	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	Intron	11	42						11	42	---	---	---	---	-	193002702	AC	-	193002701	8	5	451	1	0	1	0	1	0	0	1	0	1127	405	14	0	442	0	ATP13A5	3	193002701	Splice_Site	DEL	AC	TCGA-S9-A7QZ-01A-12D-A34J-08	8908954	193002701	5019729	26	37803											
GP5	2814	broad.mit.edu	37	chr3	194117609	194117609	+	Frame_Shift_Del	DEL	C	C	-													ggcccgggcactccgcgtcaCcccccggcagggcccagagc							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:194117609delC	ENST00000401815.1	-	1	1474	c.1403delG	c.(1402-1404)ggtfs	p.G468fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	468	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)		CTCCGCGTCACCCCCCGGCAG	0.781																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1402-1404)gtfs		glycoprotein V (platelet)							7	9	8					3																	194117609		1957	3911	5868	SO:0001589	frameshift_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117609delC	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.1403delG	3.37:g.194117609delC	ENSP00000383931:p.Gly468fs					GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs	p.G468fs			P40197	GPV_HUMAN	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)	1	1474	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	468			LRRCT.		D1MER9	Frame_Shift_Del	DEL	ENST00000401815.1	37	c.1403delG	CCDS3307.1																																																																																				0.781	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	24						7	24	---	---	---	---	-	194117609	C	-	194117609	7	5	451	1	0	1	0	1	0	0	0	0	6583	507	18	0	283	0	GP5	3	194117609	Frame_Shift_Del	DEL	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1114908	194117609	3904821	27	37804											
TNK2	10188	broad.mit.edu	37	chr3	195605334	195605334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctccagcaggaagtcccGcagggccacaaacgtgggtc	12	15	0	0	rs141404332	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:195605334G>A	ENST00000333602.6	-	8	1761	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	TNK2_ENST00000468819.1_5'Flank|TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W|TNK2_ENST00000381916.2_Missense_Mutation_p.R445W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			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)	p.R445W(2)		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)	AGGAAGTCCCGCAGGGCCACA	0.652													G|||	3	0.000599042	0.0	0.0	5008	,	,		18849	0.003		0.0	False		,,,				2504	0.0					ENST00000333602.6																			2	Substitution - Missense(2)	p.R445W(2)	stomach(2)	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						c.(1144-1146)Cgg>Tgg		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	85	84		1333,1144	3	1	3	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TNK2	NM_001010938.1,NM_005781.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	445/1087,382/1039	195605334	1,13005	2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195605334G>A	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.1144C>T	3.37:g.195605334G>A	ENSP00000329425:p.Arg382Trp					TNK2_ENST00000381916.2_Missense_Mutation_p.R445W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W|TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W	p.R382W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	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)	8	1761	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	382	Missing (in Ref. 4; AAH08884).		Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1144C>T	CCDS33928.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.82	2.649947	0.47362	0.0	1.16E-4	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.86	3.03	0.35002	Src homology-3 domain (1);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	0.78285	0.4259	M	0.83223	2.63	0.46416	D	0.999038	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.975;0.997;0.994;0.992	T	0.78175	-0.2306	10	0.45353	T	0.12	.	12.1577	0.54087	0.0:0.0:0.5517:0.4483	.	258;382;445;414	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	W	382;445;414;382;382	ENSP00000329425:R382W;ENSP00000371341:R445W;ENSP00000392546:R414W;ENSP00000376201:R382W;ENSP00000323216:R382W	ENSP00000323216:R382W	R	-	1	2	TNK2	197089731	0.731000	0.28111	0.964000	0.40570	0.391000	0.30476	1.049000	0.30392	0.622000	0.30249	0.655000	0.94253	CGG		0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		4	117	0	0	0	1	0	4	117					A	195605334	G	A	195605334	3	1	451	1	0	0	0	0	1	0	0	0	16315	1086	38	1	2053	1	TNK2	3	195605334	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	1487725	195605334	2417096	28	37805											
UGT2B15	7367	broad.mit.edu	37	chr4	69403357	69403357	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atataactaatcccttttctTcttctttcctgttttggcaa	3	10	3	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69403357T>A	ENST00000317746.2	-	6	1621	c.1579A>T	c.(1579-1581)Aag>Tag	p.K527*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	527					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TCCCTTTTCTTCTTCTTTCCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1579-1581)Aag>Tag		UDP glucuronosyltransferase 2 family, polypeptide B17							85	82	83					4																	69403357		2118	4015	6133	SO:0001587	stop_gained	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403357T>A	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1579A>T	4.37:g.69403357T>A	ENSP00000320401:p.Lys527*						p.K527*	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1621	-			527						Nonsense_Mutation	SNP	ENST00000317746.2	37	c.1579A>T	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337419	0.60963	.	.	ENSG00000197888	ENST00000317746	.	.	.	2.85	-1.56	0.08532	.	0.564547	0.15409	U	0.263906	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.762	0.08607	0.0:0.2597:0.1935:0.5467	.	.	.	.	X	527	.	ENSP00000320401:K527X	K	-	1	0	UGT2B17	69085952	0.000000	0.05858	0.038000	0.18304	0.173000	0.22820	-0.449000	0.06812	-0.037000	0.13646	0.164000	0.16699	AAG		0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		34	77	0	0	0	1	0	34	77					A	69403357	T	A	69403357	4	1	451	1	0	0	0	0	0	1	0	0	16955	1792	62	5	17	5	UGT2B15	4	69403357	Nonsense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		69403357	121750919	29	37806											
UGT2A3	79799	broad.mit.edu	37	chr4	69795658	69795658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcacatctatagagtagTgctggaaccaggtgaggtca	11	8	3	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69795658T>G	ENST00000251566.4	-	6	1487	c.1457A>C	c.(1456-1458)cAc>cCc	p.H486P	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	486					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATAGAGTAGTGCTGGAACCA	0.453																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1456-1458)cAc>cCc		UDP glucuronosyltransferase 2 family, polypeptide A3							70	71	71					4																	69795658		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795658T>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1457A>C	4.37:g.69795658T>G	ENSP00000251566:p.His486Pro					UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P	p.H486P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1487	-			486					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1457A>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	T	8.934	0.964114	0.18583	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.59502	0.26;0.26	2.22	2.22	0.28083	.	0.210963	0.42053	D	0.000768	T	0.46964	0.1420	L	0.27053	0.805	0.31489	N	0.666235	B	0.32939	0.391	B	0.41510	0.359	T	0.56823	-0.7915	10	0.87932	D	0	.	7.9616	0.30074	0.0:0.0:0.0:1.0	.	486	Q6UWM9	UD2A3_HUMAN	P	486;197	ENSP00000251566:H486P;ENSP00000440115:H197P	ENSP00000251566:H486P	H	-	2	0	UGT2A3	69830247	1.000000	0.71417	0.519000	0.27824	0.008000	0.06430	6.678000	0.74508	1.027000	0.39758	0.402000	0.26972	CAC		0.453	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		9	117	0	0	0	1	0	9	117					G	69795658	T	G	69795658	3	3	451	1	0	0	0	0	1	0	0	0	16952	1696	59	5	130	5	UGT2A3	4	69795658	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	392301	69795658	121358618	30	37807											
ADH1A	124	broad.mit.edu	37	chr4	100208068	100208068	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccggctgcctcatggccTaaaatcacaggaagtggggt	13	10	2	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:100208068T>C	ENST00000209668.2	-	3	311	c.198A>G	c.(196-198)ttA>ttG	p.L66L	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	66					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTCATGGCCTAAAATCACAG	0.498																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(196-198)ttA>ttG		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						190	173	179					4																	100208068		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208068T>C	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.198A>G	4.37:g.100208068T>C						RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.L66L	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	311	-			66					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.198A>G	CCDS3648.1																																																																																				0.498	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		4	220	0	0	0	1	0	4	220					C	100208068	T	C	100208068	2	2	451	1	0	0	0	0	0	0	0	1	307	1519	53	3		3	ADH1A	4	100208068	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	30412410	100208068	90946208	31	37808											
CENPE	1062	broad.mit.edu	37	chr4	104066385	104066385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttgtagtgctgaatccTtggctttgcgatgctccttg	10	9	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:104066385T>C	ENST00000265148.3	-	32	4768	c.4679A>G	c.(4678-4680)aAg>aGg	p.K1560R	CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1560					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)		TGCTGAATCCTTGGCTTTGCG	0.333																																						ENST00000265148.3																			0				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						c.(4678-4680)aAg>aGg		centromere protein E, 312kDa							139	127	131					4																	104066385		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104066385T>C	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.4679A>G	4.37:g.104066385T>C	ENSP00000265148:p.Lys1560Arg					CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R	p.K1560R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	32	4768	-			1560					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4679A>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779842	0.16120	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70631	-0.4;-0.5	4.34	3.16	0.36331	.	.	.	.	.	T	0.70168	0.3193	L	0.39397	1.21	0.09310	N	1	D;D	0.63880	0.986;0.993	P;P	0.58520	0.793;0.84	T	0.56715	-0.7933	9	0.37606	T	0.19	.	5.7077	0.17917	0.0:0.2119:0.0:0.7881	.	1535;1560	Q02224-3;Q02224	.;CENPE_HUMAN	R	1560;1560;1535	ENSP00000265148:K1560R;ENSP00000369365:K1535R	ENSP00000265148:K1560R	K	-	2	0	CENPE	104285834	0.001000	0.12720	0.002000	0.10522	0.018000	0.09664	-0.001000	0.12947	0.707000	0.31934	0.448000	0.29417	AAG		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	78	0	0	0	1	0	20	78					C	104066385	T	C	104066385	3	2	451	1	0	0	0	0	1	0	0	0	3230	1609	56	3	3498	3	CENPE	4	104066385	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	3858317	104066385	87087891	32	37809											
GHR	2690	broad.mit.edu	37	chr5	42718951	42718951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactcagcagcccagtGttatccaagcagagaaaaac	8	12	1	1	rs371198233		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:42718951G>A	ENST00000230882.4	+	10	1532	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	GHR_ENST00000357703.3_Missense_Mutation_p.V426I|GHR_ENST00000537449.1_Missense_Mutation_p.V261I	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	448					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)	GCAGCCCAGTGTTATCCAAGC	0.448																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1342-1344)Gtt>Att		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						71	64	66					5																	42718951		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718951G>A		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.1342G>A	5.37:g.42718951G>A	ENSP00000230882:p.Val448Ile					GHR_ENST00000537449.1_Missense_Mutation_p.V261I|GHR_ENST00000357703.3_Missense_Mutation_p.V426I	p.V448I	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			10	1532	+		Myeloproliferative disorder(839;0.00878)	448					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1342G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	4.238	0.043106	0.08196	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	D;D;T	0.84298	-1.83;-1.71;-0.71	6.0	3.25	0.37280	.	0.826297	0.11129	N	0.596582	T	0.77818	0.4187	L	0.39633	1.23	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.60005	-0.7347	10	0.19590	T	0.45	-4.2202	8.7403	0.34554	0.3166:0.0:0.6834:0.0	.	448	P10912	GHR_HUMAN	I	448;426;261	ENSP00000230882:V448I;ENSP00000350335:V426I;ENSP00000442206:V261I	ENSP00000230882:V448I	V	+	1	0	GHR	42754708	0.001000	0.12720	0.001000	0.08648	0.661000	0.39034	0.830000	0.27462	0.423000	0.26033	0.591000	0.81541	GTT		0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		22	66	0	0	0	1	0	22	66					A	42718951	G	A	42718951	3	1	451	1	0	0	0	0	1	0	0	0	6371	1377	48	2	1376	2	GHR	5	42718951	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		42718951	138196309	33	37810											
RIOK2	55781	broad.mit.edu	37	chr5	96503256	96503258	+	In_Frame_Del	DEL	CTC	CTC	-													ctcgtcagagccagcagggaCtcctccttgaactctctgac							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:96503256_96503258delCTC	ENST00000283109.3	-	8	1378_1380	c.1310_1312delGAG	c.(1309-1314)ggagtc>gtc	p.G437del	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_In_Frame_Del_p.G437del	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	437	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCAGCAGGGACTCCTCCTTGAAC	0.419																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1309-1314)gtc>g		RIO kinase 2																																				SO:0001651	inframe_deletion	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503256_96503258delCTC	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1310_1312delGAG	5.37:g.96503259_96503261delCTC	ENSP00000283109:p.Gly437del					CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_In_Frame_Del_p.GV437del	p.GV437del	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1378_1380	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	437			Protein kinase.		D6RDI3|Q9NUT0	In_Frame_Del	DEL	ENST00000283109.3	37	c.1310_1312delGAG	CCDS4089.1																																																																																				0.419	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		7	174						7	174	---	---	---	---	-	96503258	CTC	-	96503256	7	5	451	1	0	1	0	1	0	0	0	0	13378	565	20	0	386	0	RIOK2	5	96503256	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08	53784305	96503256	84412004	34	37811											
PCDHB13	56123	broad.mit.edu	37	chr5	140595357	140595359	+	In_Frame_Del	DEL	CAA	CAA	-													cgcgtggtggtgctggacgcCaacgacaactcgcccttcgt					rs568642398		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:140595357_140595359delCAA	ENST00000341948.4	+	1	1849_1851	c.1662_1664delCAA	c.(1660-1665)gccaac>gcc	p.N555del		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	555	Cadherin 5. {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)			TGCTGGACGCCAACGACAACTCG	0.719																																						ENST00000341948.4																			0				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						c.(1660-1665)gcc>gc																																						SO:0001651	inframe_deletion	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595357_140595359delCAA	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.1662_1664delCAA	5.37:g.140595357_140595359delCAA	ENSP00000345491:p.Asn555del						p.AN554del	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1849_1851	+			554			Cadherin 5.		A8K9V6	In_Frame_Del	DEL	ENST00000341948.4	37	c.1662_1664delCAA	CCDS4255.1																																																																																				0.719	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		19	102						19	102	---	---	---	---	-	140595359	CAA	-	140595357	7	5	451	1	0	1	0	1	0	0	0	0	11538	581	21	0	1664	0	PCDHB13	5	140595357	In_Frame_Del	DEL	CAA	TCGA-S9-A7QZ-01A-12D-A34J-08	44092101	140595357	40319903	35	37812											
ZNF311	282890	broad.mit.edu	37	chr6	28963010	28963010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccctgacggaaggacGtgccacactcactgcaggtg	13	13	1	2	rs551114761		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:28963010G>A	ENST00000377179.3	-	7	2281	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	590					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(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACGGAAGGACGTGCCACACTC	0.488																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1768-1770)aCg>aTg		zinc finger protein 311							135	118	124					6																	28963010		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963010G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1769C>T	6.37:g.28963010G>A	ENSP00000366384:p.Thr590Met					ZNF311_ENST00000483450.1_5'UTR	p.T590M	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	2281	-			590					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1769C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831719	0.32421	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.18016	2.24	3.79	-3.18	0.05186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	N	0.03253	-0.375	0.09310	N	1	B	0.25743	0.133	B	0.19946	0.027	T	0.43798	-0.9369	9	0.66056	D	0.02	0.0071	0.5879	0.00723	0.3942:0.1329:0.2353:0.2377	.	590	Q5JNZ3	ZN311_HUMAN	M	590;498	ENSP00000366384:T590M	ENSP00000366384:T590M	T	-	2	0	ZNF311	29070989	0.036000	0.19791	0.001000	0.08648	0.610000	0.37248	1.406000	0.34646	-0.510000	0.06523	-0.941000	0.02677	ACG		0.488	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		9	110	0	0	0	1	0	9	110					A	28963010	G	A	28963010	3	1	451	1	0	0	0	0	1	0	0	0	17831	1145	40	1	235	1	ZNF311	6	28963010	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		28963010	142152057	36	37813											
ABCC10	89845	broad.mit.edu	37	chr6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccaccagctgggcaccgGctggctgacccaggggggcg	16	16	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:43415432G>A	ENST00000372530.4	+	18	3931	c.3716G>A	c.(3715-3717)gGc>gAc	p.G1239D	ABCC10_ENST00000244533.3_Missense_Mutation_p.G1211D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239					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)	CTGGGCACCGGCTGGCTGACC	0.632																																						ENST00000244533.3																			0				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						c.(3631-3633)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							145	172	163					6																	43415432		2203	4298	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415432G>A	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.3716G>A	6.37:g.43415432G>A	ENSP00000361608:p.Gly1239Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	p.G1211D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	3991	+	all_lung(25;0.00536)		1239					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3632G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991602	0.18966	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90900	-2.74;-2.75	5.61	4.74	0.60224	.	0.479972	0.23496	N	0.047559	T	0.60327	0.2260	N	0.12746	0.255	0.34207	D	0.673873	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.004	T	0.51458	-0.8703	10	0.02654	T	1	-22.9541	5.3476	0.16018	0.2734:0.0:0.7266:0.0	.	1211;1239	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1239;1211	ENSP00000361608:G1239D;ENSP00000244533:G1211D	ENSP00000244533:G1211D	G	+	2	0	ABCC10	43523410	0.921000	0.31238	0.967000	0.41034	0.517000	0.34286	1.539000	0.36104	2.641000	0.89580	0.591000	0.81541	GGC		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		6	357	0	0	0	1	0	6	357					A	43415432	G	A	43415432	3	1	451	1	0	0	0	0	1	0	0	0	50	1203	42	2	3694	2	ABCC10	6	43415432	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	14452422	43415432	127699635	37	37814											
PKHD1	5314	broad.mit.edu	37	chr6	51824709	51824709	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttgtgttagtgtccAgcagaagcaattggccattc	12	8	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:51824709A>T	ENST00000371117.3	-	36	6142	c.5867T>A	c.(5866-5868)cTg>cAg	p.L1956Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1956	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				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)					GTTAGTGTCCAGCAGAAGCAA	0.458											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371117.3																			0				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						c.(5866-5868)cTg>cAg		polycystic kidney and hepatic disease 1 (autosomal recessive)							192	171	178					6																	51824709		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51824709A>T	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.5867T>A	6.37:g.51824709A>T	ENSP00000360158:p.Leu1956Gln		OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q	p.L1956Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			36	6142	-	Lung NSC(77;0.0605)		1956			G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5867T>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844240	0.51164	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90788	-2.73;-2.73	5.69	5.69	0.88448	G8 domain (2);	0.102905	0.40222	N	0.001145	D	0.95695	0.8600	M	0.91818	3.245	0.35410	D	0.792386	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97529	1.0078	10	0.87932	D	0	.	15.1232	0.72460	1.0:0.0:0.0:0.0	.	1956;1956	P08F94-2;P08F94	.;PKHD1_HUMAN	Q	1956	ENSP00000360158:L1956Q;ENSP00000341097:L1956Q	ENSP00000341097:L1956Q	L	-	2	0	PKHD1	51932668	0.999000	0.42202	0.944000	0.38274	0.290000	0.27261	6.151000	0.71806	2.162000	0.67917	0.533000	0.62120	CTG		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	183	0	0	0	1	0	6	183					T	51824709	A	T	51824709	3	4	451	1	0	0	0	0	1	0	0	0	11971	188	7	5	6524	5	PKHD1	6	51824709	Missense_Mutation	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	8409277	51824709	119290358	38	37815											
GSTA3	2940	broad.mit.edu	37	chr6	52764820	52764822	+	In_Frame_Del	DEL	AGA	AGA	-													cctcaggtcgacataagggcAgaagaaggatcatttcattc							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:52764820_52764822delAGA	ENST00000211122.3	-	5	389_391	c.324_326delTCT	c.(322-327)cttctg>ctg	p.108_109LL>L	GSTA3_ENST00000370968.1_In_Frame_Del_p.58_59LL>L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	108	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACATAAGGGCAGAAGAAGGATCA	0.389																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(322-327)ctg>ct		glutathione S-transferase alpha 3	Glutathione(DB00143)																																			SO:0001651	inframe_deletion	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52764820_52764822delAGA	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.324_326delTCT	6.37:g.52764823_52764825delAGA	ENSP00000211122:p.Leu109del					GSTA3_ENST00000370968.1_In_Frame_Del_p.LL58del	p.LL108del	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			5	389_391	-	Lung NSC(77;0.0912)		108			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	In_Frame_Del	DEL	ENST00000211122.3	37	c.324_326delTCT	CCDS4947.1																																																																																				0.389	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			9	217						9	217	---	---	---	---	-	52764822	AGA	-	52764820	7	5	451	1	0	1	0	1	0	0	0	0	6832	188	7	0	354	0	GSTA3	6	52764820	In_Frame_Del	DEL	AGA	TCGA-S9-A7QZ-01A-12D-A34J-08	940111	52764820	118350247	39	37816											
COL12A1	1303	broad.mit.edu	37	chr6	75875253	75875255	+	In_Frame_Del	DEL	CTC	CTC	-													ggcatctccagtcaaaggttCtccttctccactgctgtaag					rs376514006		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:75875253_75875255delCTC	ENST00000322507.8	-	14	3260_3262	c.2951_2953delGAG	c.(2950-2955)ggagaa>gaa	p.G984del	COL12A1_ENST00000416123.2_In_Frame_Del_p.G984del|COL12A1_ENST00000483888.2_In_Frame_Del_p.G984del|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	984	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GTCAAAGGTTCTCCTTCTCCACT	0.429																																						ENST00000322507.8																			0				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						c.(2950-2955)gaa>g		collagen, type XII, alpha 1																																				SO:0001651	inframe_deletion	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75875253_75875255delCTC	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.2951_2953delGAG	6.37:g.75875253_75875255delCTC	ENSP00000325146:p.Gly984del					COL12A1_ENST00000416123.2_In_Frame_Del_p.GE984del|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_In_Frame_Del_p.GE984del	p.GE984del	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			14	3260_3262	-			984			Fibronectin type-III 6.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	In_Frame_Del	DEL	ENST00000322507.8	37	c.2951_2953delGAG	CCDS43482.1																																																																																				0.429	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		34	127						34	127	---	---	---	---	-	75875255	CTC	-	75875253	7	5	451	1	0	1	0	1	0	0	0	0	3669	922	32	0	6450	0	COL12A1	6	75875253	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08	23110433	75875253	95239814	40	37817											
OGDH	4967	broad.mit.edu	37	chr7	44737090	44737090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcactgtctgagtacggcGtgctgggtgagtgcctggag	17	9	2	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:44737090G>A	ENST00000222673.5	+	16	2215	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	725					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)	TGAGTACGGCGTGCTGGGTGA	0.592																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2173-2175)Gtg>Atg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						89	87	88					7																	44737090		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737090G>A	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.2173G>A	7.37:g.44737090G>A	ENSP00000222673:p.Val725Met					OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M|OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M	p.V725M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			16	2215	+			725					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2173G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856341	0.91355	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.99	4.99	0.66335	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.93106	3.38	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	0.91635	0.999;0.997;0.999;0.999;0.999;0.999	D	0.97354	0.9965	10	0.87932	D	0	-45.3373	18.0568	0.89365	0.0:0.0:1.0:0.0	.	520;575;721;736;627;725	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	M	575;721;736;740;725;676	ENSP00000398576:V575M;ENSP00000392878:V721M;ENSP00000388183:V736M;ENSP00000414662:V740M;ENSP00000222673:V725M;ENSP00000443821:V676M	ENSP00000222673:V725M	V	+	1	0	OGDH	44703615	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.657000	0.98554	2.588000	0.87417	0.555000	0.69702	GTG		0.592	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			26	64	0	0	0	1	0	26	64					A	44737090	G	A	44737090	3	1	451	1	0	0	0	0	1	0	0	0	10839	1145	40	1	2404	1	OGDH	7	44737090	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		44737090	114401573	41	37818											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		2	4						2	4	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	451	1	0	1	1	0	0	0	0	0	4575	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-S9-A7QZ-01A-12D-A34J-08	51898330	96635420	62503243	42	37819											
RELN	5649	broad.mit.edu	37	chr7	103216050	103216050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagtccccatggccactGcagtaactgggacaaggctc	11	13	0	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:103216050G>A	ENST00000428762.1	-	29	4407	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000424685.2_Silent_p.C1416C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1416	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CATGGCCACTGCAGTAACTGG	0.463																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				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						c.(4246-4248)tgC>tgT		reelin							149	122	131					7																	103216050		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103216050G>A		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.4248C>T	7.37:g.103216050G>A						RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000424685.2_Silent_p.C1416C	p.C1416C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4407	-			1416			EGF-like 3.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.4248C>T	CCDS47680.1																																																																																				0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	96	0	0	0	1	0	4	96					A	103216050	G	A	103216050	2	1	451	1	0	0	0	0	0	0	0	1	13220	1311	46	2		2	RELN	7	103216050	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	6580630	103216050	55922613	43	37820											
STC1	6781	broad.mit.edu	37	chr8	23702537	23702537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattccagcaggcttcggaCaagtctgttatagtatctgc	9	10	2	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:23702537C>A	ENST00000290271.2	-	4	773	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	STC1_ENST00000524323.1_Missense_Mutation_p.V95F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	164					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V164L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCTTCGGACAAGTCTGTTA	0.522																																						ENST00000290271.2																			1	Substitution - Missense(1)	p.V164L(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(490-492)Gtc>Ttc		stanniocalcin 1							120	110	114					8																	23702537		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702537C>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.490G>T	8.37:g.23702537C>A	ENSP00000290271:p.Val164Phe					STC1_ENST00000524323.1_Missense_Mutation_p.V95F	p.V164F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	773	-		Prostate(55;0.055)|Breast(100;0.116)	164					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.490G>T	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884175	0.72410	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	0.367	0.16140	.	0.315253	0.35349	N	0.003274	T	0.42921	0.1224	L	0.42245	1.32	0.37819	D	0.928319	B	0.26577	0.153	B	0.23275	0.045	T	0.25433	-1.0132	9	0.66056	D	0.02	-15.5655	6.1791	0.20461	0.0:0.4748:0.1201:0.4051	.	164	P52823	STC1_HUMAN	F	164;95;95	.	ENSP00000290271:V164F	V	-	1	0	STC1	23758482	0.778000	0.28640	0.424000	0.26647	0.940000	0.58332	1.155000	0.31700	-0.211000	0.10124	-0.143000	0.13931	GTC		0.522	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			7	111	1	0	5.18039e-06	1	5.33055e-06	7	111					A	23702537	C	A	23702537	3	1	451	1	0	0	0	0	1	0	0	0	15274	478	17	4	257	4	STC1	8	23702537	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		23702537	122661485	44	37821											
PRKDC	5591	broad.mit.edu	37	chr8	48852241	48852241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcatttctgcatttttcGccaccatattagaaacctgc	5	11	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:48852241G>A	ENST00000314191.2	-	11	1039	c.983C>T	c.(982-984)gCg>gTg	p.A328V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	328					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)	TGCATTTTTCGCCACCATATT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(982-984)gCg>gTg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							61	55	57					8																	48852241		1828	4077	5905	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48852241G>A		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.983C>T	8.37:g.48852241G>A	ENSP00000313420:p.Ala328Val					PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V|PRKDC_ENST00000523565.1_5'UTR	p.A328V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			11	1039	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	328					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.983C>T		.	.	.	.	.	.	.	.	.	.	G	18.57	3.652055	0.67472	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.67523	0.9;-0.27	5.73	5.73	0.89815	Armadillo-type fold (1);	0.063559	0.64402	D	0.000008	T	0.60038	0.2238	.	.	.	0.80722	D	1	P;P;P	0.44816	0.84;0.844;0.752	B;B;B	0.36845	0.234;0.118;0.118	T	0.61252	-0.7100	9	0.36615	T	0.2	.	19.8869	0.96915	0.0:0.0:1.0:0.0	.	328;328;328	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	328	ENSP00000313420:A328V;ENSP00000345182:A328V	ENSP00000313420:A328V	A	-	2	0	PRKDC	49014794	1.000000	0.71417	0.965000	0.40720	0.916000	0.54674	9.272000	0.95707	2.693000	0.91896	0.655000	0.94253	GCG		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	50	0	0	0	1	0	10	50					A	48852241	G	A	48852241	3	1	451	1	0	0	0	0	1	0	0	0	12521	1087	38	1	11706	1	PRKDC	8	48852241	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	25149704	48852241	97511781	45	37822											
PDE7A	5150	broad.mit.edu	37	chr8	66695041	66695041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacgaatgtataatgcaGtctgatcagaactgtcatag	9	7	3	2	rs61736484	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:66695041G>A	ENST00000401827.3	-	2	619	c.176C>T	c.(175-177)aCt>aTt	p.T59I	PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I|PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	59					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTATAATGCAGTCTGATCAGA	0.289																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(175-177)aCt>aTt		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						49	49	49					8																	66695041		2203	4297	6500	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66695041G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.176C>T	8.37:g.66695041G>A	ENSP00000385632:p.Thr59Ile					PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I|PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I	p.T59I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		2	619	-			59					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.176C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571260	0.86542	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.78003	-1.14;-0.4;-1.14;0.65	5.54	5.54	0.83059	.	0.665359	0.15169	N	0.276755	D	0.86108	0.5854	L	0.50333	1.59	0.50313	D	0.999866	D;D;D	0.76494	0.997;0.992;0.999	D;P;D	0.80764	0.991;0.858;0.994	D	0.86003	0.1496	10	0.72032	D	0.01	.	18.256	0.90020	0.0:0.0:1.0:0.0	.	59;59;33	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	I	59;33;59;33	ENSP00000385632:T59I;ENSP00000368730:T33I;ENSP00000379881:T59I;ENSP00000430262:T33I	ENSP00000368730:T33I	T	-	2	0	PDE7A	66857595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.143000	0.71756	2.610000	0.88304	0.555000	0.69702	ACT		0.289	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			5	40	0	0	0	1	0	5	40					A	66695041	G	A	66695041	3	1	451	1	0	0	0	0	1	0	0	0	11651	1029	36	2	1352	2	PDE7A	8	66695041	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	17842800	66695041	79668981	46	37823											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457474	110457474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caacagttcagagcaatagaGgttaatgaaaacaacatcac	7	8	2	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:110457474G>C	ENST00000378402.5	+	38	5480	c.5376G>C	c.(5374-5376)gaG>gaC	p.E1792D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1792	IPT/TIG 10.				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)			GAGCAATAGAGGTTAATGAAA	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				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						c.(5374-5376)gaG>gaC		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							122	116	118					8																	110457474		1943	4152	6095	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457474G>C	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.5376G>C	8.37:g.110457474G>C	ENSP00000367655:p.Glu1792Asp	HNSCC(38;0.096)					p.E1792D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5480	+			1792			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5376G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	0.490	-0.875587	0.02550	.	.	ENSG00000205038	ENST00000378402	T	0.76968	-1.06	6.03	-4.37	0.03633	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.616117	0.16447	N	0.214046	T	0.30262	0.0759	N	0.00308	-1.67	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.49273	-0.8957	10	0.09084	T	0.74	.	2.2252	0.03982	0.1058:0.1957:0.3367:0.3619	.	1792	Q86WI1	PKHL1_HUMAN	D	1792	ENSP00000367655:E1792D	ENSP00000367655:E1792D	E	+	3	2	PKHD1L1	110526650	0.000000	0.05858	0.285000	0.24819	0.266000	0.26442	-1.285000	0.02791	-1.042000	0.03262	-0.266000	0.10368	GAG		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	90	0	0	0	1	0	9	90					C	110457474	G	C	110457474	3	2	451	1	0	0	0	0	1	0	0	0	11972	991	35	4	5526	4	PKHD1L1	8	110457474	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	43762433	110457474	35906548	47	37824											
EFR3A	23167	broad.mit.edu	37	chr8	132968029	132968031	+	In_Frame_Del	DEL	CTT	CTT	-													ttttagtcgcataggccctcCttcttctccttctgcaactg					rs370171637		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:132968029_132968031delCTT	ENST00000254624.5	+	7	878_880	c.653_655delCTT	c.(652-657)ccttct>cct	p.S220del	EFR3A_ENST00000334503.4_In_Frame_Del_p.S220del|EFR3A_ENST00000519656.1_In_Frame_Del_p.S184del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	220						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGGCCCTCCTTCTTCTCCTTC	0.355																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(652-657)cct>c		EFR3 homolog A (S. cerevisiae)				11,4253		5,1,2126						5.6	1			124	13,8241		6,1,4120	no	coding	EFR3A	NM_015137.4		11,2,6246	A1A1,A1R,RR		0.1575,0.258,0.1917				24,12494				SO:0001651	inframe_deletion	23167					plasma membrane	binding	g.chr8:132968029_132968031delCTT	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.653_655delCTT	8.37:g.132968032_132968034delCTT	ENSP00000254624:p.Ser220del					EFR3A_ENST00000334503.4_In_Frame_Del_p.PS218del|EFR3A_ENST00000519656.1_In_Frame_Del_p.PS182del	p.PS218del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		7	878_880	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		218					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	In_Frame_Del	DEL	ENST00000254624.5	37	c.653_655delCTT	CCDS34942.2																																																																																				0.355	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		12	147						12	147	---	---	---	---	-	132968031	CTT	-	132968029	7	5	451	1	0	1	0	1	0	0	0	0	4958	681	24	0	679	0	EFR3A	8	132968029	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	22510555	132968029	13395993	48	37825											
ZNF462	58499	broad.mit.edu	37	chr9	109692929	109692929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatcacctccgaaagcacGtccagtatggcaatgtccca	8	14	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:109692929G>A	ENST00000277225.5	+	4	6260	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1991					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGAAAGCACGTCCAGTATGG	0.498																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5971-5973)Gtc>Atc		zinc finger protein 462							148	123	132					9																	109692929		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109692929G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5971G>A	9.37:g.109692929G>A	ENSP00000277225:p.Val1991Ile					ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I|ZNF462_ENST00000497489.1_3'UTR	p.V1991I			Q96JM2	ZN462_HUMAN			4	6260	+			1991					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5971G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311652	0.95655	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05855	3.38;3.77;3.87;3.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.969	T	0.00756	-1.1579	10	0.56958	D	0.05	-17.4723	19.2748	0.94027	0.0:0.0:1.0:0.0	.	1991;1991	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	I	1991;1991;874;836	ENSP00000277225:V1991I;ENSP00000414570:V1991I;ENSP00000363818:V874I;ENSP00000397306:V836I	ENSP00000277225:V1991I	V	+	1	0	ZNF462	108732750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.558000	0.86282	0.655000	0.94253	GTC		0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		4	67	0	0	0	1	0	4	67					A	109692929	G	A	109692929	3	1	451	1	0	0	0	0	1	0	0	0	17923	1145	40	1	5981	1	ZNF462	9	109692929	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		109692929	31520502	49	37826											
AKNA	80709	broad.mit.edu	37	chr9	117106023	117106023	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taatgggccggcagtggggaCaggagactgtgccattgcct	16	9	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:117106023C>G	ENST00000307564.4	-	19	3883	c.3722G>C	c.(3721-3723)tGt>tCt	p.C1241S	AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S|AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1241					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						GCAGTGGGGACAGGAGACTGT	0.587																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3721-3723)tGt>tCt		AT-hook transcription factor							87	83	84					9																	117106023		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117106023C>G	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.3722G>C	9.37:g.117106023C>G	ENSP00000303769:p.Cys1241Ser					AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S|AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S	p.C1241S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			19	3883	-			1241					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.3722G>C	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.953693|2.953693	0.53293|0.53293	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075|ENST00000320310	T;T;T;T;T|.	0.53206|.	0.93;1.02;0.93;0.63;0.88|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.66636|0.66636	0.2809|0.2809	M|M	0.71581|0.71581	2.175|2.175	0.36497|0.36497	D|D	0.8688|0.8688	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.994;0.998|.	T|T	0.70561|0.70561	-0.4838|-0.4838	10|6	0.66056|0.36615	D|T	0.02|0.2	-10.3868|-10.3868	12.1362|12.1362	0.53972|0.53972	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1241;1160|.	Q7Z591;Q7Z591-2|.	AKNA_HUMAN;.|.	S|L	1241;186;1241;701;1160|252	ENSP00000303769:C1241S;ENSP00000363192:C186S;ENSP00000363201:C1241S;ENSP00000223791:C701S;ENSP00000363188:C1160S|.	ENSP00000223791:C701S|ENSP00000314538:V252L	C|V	-|-	2|1	0|0	AKNA|AKNA	116145844|116145844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.367000|0.367000	0.29736|0.29736	2.974000|2.974000	0.49272|0.49272	2.568000|2.568000	0.86640|0.86640	0.650000|0.650000	0.86243|0.86243	TGT|GTC		0.587	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		6	57	0	0	0	1	0	6	57					G	117106023	C	G	117106023	3	3	451	1	0	0	0	0	1	0	0	0	463	478	17	4	613	4	AKNA	9	117106023	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	7413094	117106023	24107408	50	37827											
ZBTB34	403341	broad.mit.edu	37	chr9	129642336	129642336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgaatatgagattcagataGagggagaccatgagcaagga	13	5	1	6			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:129642336G>A	ENST00000373452.2	+	1	710	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ZBTB34_ENST00000319119.4_Missense_Mutation_p.E220K			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	216					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)|prostate(3)|upper_aerodigestive_tract(1)	12						GATTCAGATAGAGGGAGACCA	0.577																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(658-660)Gag>Aag		zinc finger and BTB domain containing 34							64	71	68					9																	129642336		2013	4155	6168	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642336G>A	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.646G>A	9.37:g.129642336G>A	ENSP00000362551:p.Glu216Lys					ZBTB34_ENST00000373452.2_Missense_Mutation_p.E216K	p.E220K	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	743	+			216					Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.658G>A	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283465	0.80803	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.09073	3.02;3.03	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.10359	-1.0633	10	0.08381	T	0.77	.	19.8339	0.96646	0.0:0.0:1.0:0.0	.	216	Q8NCN2	ZBT34_HUMAN	K	220;216	ENSP00000317534:E220K;ENSP00000362551:E216K	ENSP00000317534:E220K	E	+	1	0	ZBTB34	128682157	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.092000	0.94157	2.751000	0.94390	0.655000	0.94253	GAG		0.577	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		8	61	0	0	0	1	0	8	61					A	129642336	G	A	129642336	3	1	451	1	0	0	0	0	1	0	0	0	17534	943	33	2	648	2	ZBTB34	9	129642336	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	12536313	129642336	11571095	51	37828											
TTF1	7270	broad.mit.edu	37	chr9	135251350	135251350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtactggaattacaggcGtgagccatgcatggcgcctg	13	9	0	1	rs199752397		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:135251350G>A	ENST00000334270.2	-	11	2709	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	890					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)		aattacaggcgtgagccatgc	0.493													g|||	0	0.0	0.0	0.0	5008	,	,		19658	0.0		0.0	False		,,,				2504	0.0					ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2668-2670)caC>caT		transcription termination factor, RNA polymerase I							52	50	51					9																	135251350		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251350G>A	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.2670C>T	9.37:g.135251350G>A						TTF1_ENST00000461970.1_5'UTR	p.H890H	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2709	-		Myeloproliferative disorder(178;0.204)	890					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.2670C>T	CCDS6948.1																																																																																				0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		4	50	0	0	0	1	0	4	50					A	135251350	G	A	135251350	2	1	451	1	0	0	0	0	0	0	0	1	16715	1136	40	1		1	TTF1	9	135251350	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	5609014	135251350	5962081	52	37829											
CCDC3	83643	broad.mit.edu	37	chr10	12940560	12940562	+	In_Frame_Del	DEL	CTT	CTT	-													tgccgcaaggacctcttgacCttcttcactcgctcccggag							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:12940560_12940562delCTT	ENST00000378825.3	-	3	793_795	c.667_669delAAG	c.(667-669)aagdel	p.K223del	CCDC3_ENST00000378839.1_In_Frame_Del_p.K98del	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	223						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)			ACCTCTTGACCTTCTTCACTCGC	0.631																																						ENST00000378839.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11						c.(292-294)del		coiled-coil domain containing 3																																				SO:0001651	inframe_deletion	83643					endoplasmic reticulum|extracellular region		g.chr10:12940560_12940562delCTT	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.667_669delAAG	10.37:g.12940563_12940565delCTT	ENSP00000368102:p.Lys223del					CCDC3_ENST00000378825.3_In_Frame_Del_p.K223del	p.K98del			Q9BQI4	CCDC3_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.163)		7	1244_1246	-		Ovarian(717;0.0822)	223					Q5VYV8|Q5VYV9	In_Frame_Del	DEL	ENST00000378825.3	37	c.292_294delAAG	CCDS7093.1																																																																																				0.631	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		32	185						32	185	---	---	---	---	-	12940562	CTT	-	12940560	7	5	451	1	0	1	0	1	0	0	0	0	2804	680	24	0	147	0	CCDC3	10	12940560	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08		12940560	122594187	53	37830											
CUBN	8029	broad.mit.edu	37	chr10	16989236	16989237	+	Frame_Shift_Del	DEL	AA	AA	-													ccataaaaaaggatttacatAaaagacagctggagccggtt							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:16989236_16989237delAA	ENST00000377833.4	-	36	5404_5405	c.5339_5340delTT	c.(5338-5340)tttfs	p.F1780fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1780	CUB 12. {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)	GGATTTACATAAAAGACAGCTG	0.446																																						ENST00000377833.4																			0				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						c.(5338-5340)tfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16989236_16989237delAA	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.5339_5340delTT	10.37:g.16989238_16989239delAA	ENSP00000367064:p.Phe1780fs						p.F1780fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			36	5404_5405	-			1780			CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.5339_5340delTT	CCDS7113.1																																																																																				0.446	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		17	87						17	87	---	---	---	---	-	16989237	AA	-	16989236	7	5	451	1	0	1	0	1	0	0	0	0	4051	359	13	0	5659	0	CUBN	10	16989236	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08	4048676	16989236	118545511	54	37831											
OR9G1	390174	broad.mit.edu	37	chr11	56468348	56468348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatcatcaccaagaaaaCgttttcctttaacttctgcc	3	12	4	1	rs543443299		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:56468348C>T	ENST00000312153.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	162						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)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCAAGAAAACGTTTTCCTTT	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21535	0.0		0.0	False		,,,				2504	0.0					ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(484-486)aCg>aTg		olfactory receptor, family 9, subfamily G, member 1							170	162	165					11																	56468348		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468348C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.485C>T	11.37:g.56468348C>T	ENSP00000309012:p.Thr162Met						p.T162M	NM_001005213.1	NP_001005213.1					1	485	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.485C>T	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.571029	0.13623	.	.	ENSG00000174914	ENST00000312153	T	0.00265	8.39	4.52	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.242889	0.29565	N	0.011796	T	0.00300	0.0009	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.54846	-0.8232	10	0.23891	T	0.37	-1.4606	8.2429	0.31671	0.0:0.5193:0.0:0.4807	.	162	Q8NH87	OR9G1_HUMAN	M	162	ENSP00000309012:T162M	ENSP00000309012:T162M	T	+	2	0	OR9G1	56224924	0.000000	0.05858	0.006000	0.13384	0.107000	0.19398	-1.086000	0.03386	0.115000	0.18071	-0.242000	0.12053	ACG		0.448	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		5	156	0	0	0	1	0	5	156					T	56468348	C	T	56468348	3	4	451	1	0	0	0	0	1	0	0	0	11250	536	19	1	487	1	OR9G1	11	56468348	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		56468348	78538168	55	37832											
CTNND1	1500	broad.mit.edu	37	chr11	57564168	57564168	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgccactatgaagatggTtatccaggtggcagtgataa	12	7	0	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:57564168T>C	ENST00000399050.4	+	6	1196	c.660T>C	c.(658-660)ggT>ggC	p.G220G	CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000524630.1_Silent_p.G220G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000529919.1_Silent_p.G220G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000532787.1_Silent_p.G119G	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	220					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)				ATGAAGATGGTTATCCAGGTG	0.562																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(658-660)ggT>ggC		catenin (cadherin-associated protein), delta 1							107	114	112					11																	57564168		2164	4265	6429	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57564168T>C	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.660T>C	11.37:g.57564168T>C						CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000399050.4_Silent_p.G220G|CTNND1_ENST00000532787.1_Silent_p.G119G|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000529919.1_Silent_p.G220G	p.G220G			O60716	CTND1_HUMAN			6	1173	+		all_epithelial(135;0.155)	220					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.660T>C	CCDS44604.1																																																																																				0.562	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		33	109	0	0	0	1	0	33	109					C	57564168	T	C	57564168	2	2	451	1	0	0	0	0	0	0	0	1	4019	1712	60	3		3	CTNND1	11	57564168	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	1095820	57564168	77442348	56	37833											
CCDC88B	283234	broad.mit.edu	37	chr11	64119066	64119068	+	In_Frame_Del	DEL	AGG	AGG	-													gctgcagagccagcgggcgcAggagcacagcagccgcctgc							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:64119066_64119068delAGG	ENST00000356786.5	+	18	3121_3123	c.3077_3079delAGG	c.(3076-3081)caggag>cag	p.E1027del	CCDC88B_ENST00000359902.2_In_Frame_Del_p.E179del|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1027						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						CAGCGGGCGCAGGAGCACAGCAG	0.68																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3076-3081)cag>c		coiled-coil domain containing 88B																																				SO:0001651	inframe_deletion	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64119066_64119068delAGG	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.3077_3079delAGG	11.37:g.64119066_64119068delAGG	ENSP00000349238:p.Glu1027del					CCDC88B_ENST00000359902.2_In_Frame_Del_p.QE178del|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.QE1026del	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			18	3121_3123	+			1026					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	In_Frame_Del	DEL	ENST00000356786.5	37	c.3077_3079delAGG	CCDS8072.2																																																																																				0.68	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	6						3	6	---	---	---	---	-	64119068	AGG	-	64119066	7	5	451	1	0	1	0	1	0	0	0	0	2864	188	7	0	3147	0	CCDC88B	11	64119066	In_Frame_Del	DEL	AGG	TCGA-S9-A7QZ-01A-12D-A34J-08	6554898	64119066	70887450	57	37834											
CAPZA3	93661	broad.mit.edu	37	chr12	18891211	18891211	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaccaaacatgacactTagcgtgctgagcaggaagga	11	9	0	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:18891211T>A	ENST00000317658.3	+	1	167	c.9T>A	c.(7-9)ctT>ctA	p.L3L	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACATGACACTTAGCGTGCTGA	0.443																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)ctT>ctA		capping protein (actin filament) muscle Z-line, alpha 3							81	79	80					12																	18891211		2203	4299	6502	SO:0001819	synonymous_variant	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891211T>A	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.9T>A	12.37:g.18891211T>A							p.L3L	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	167	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Silent	SNP	ENST00000317658.3	37	c.9T>A	CCDS8681.1																																																																																				0.443	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		22	89	0	0	0	1	0	22	89					A	18891211	T	A	18891211	2	1	451	1	0	0	0	0	0	0	0	1	2642	1741	61	5		5	CAPZA3	12	18891211	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		18891211	114960684	58	37835											
C12orf35	55196	broad.mit.edu	37	chr12	32136666	32136668	+	In_Frame_Del	DEL	CTT	CTT	-													aatggttgagccacagaaacCttctctacccaatcagcaag					rs539844931|rs149470712		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:32136666_32136668delCTT	ENST00000312561.4	+	4	3191_3193	c.2777_2779delCTT	c.(2776-2781)ccttct>cct	p.S927del	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	927																	CCACAGAAACCTTCTCTACCCAA	0.374																																						ENST00000312561.4																			0											c.(2776-2781)cct>c		KIAA1551																																				SO:0001651	inframe_deletion	55196							g.chr12:32136666_32136668delCTT	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.2777_2779delCTT	12.37:g.32136666_32136668delCTT	ENSP00000310338:p.Ser927del					KIAA1551_ENST00000535596.1_Intron	p.PS926del	NM_018169.3	NP_060639.3					4	3191_3193	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	In_Frame_Del	DEL	ENST00000312561.4	37	c.2777_2779delCTT	CCDS8725.2																																																																																				0.374	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		19	67						19	67	---	---	---	---	-	32136668	CTT	-	32136666	7	5	451	1	0	1	0	1	0	0	0	0	1682	681	24	0	2779	0	C12orf35	12	32136666	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	13245455	32136666	101715229	59	37836											
ATF1	466	broad.mit.edu	37	chr12	51213443	51213445	+	In_Frame_Del	DEL	AAG	AAG	-													ctgctcgagaatgtcgcagaAagaagaaagaatatgtgaaa							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:51213443_51213445delAAG	ENST00000262053.3	+	7	719_721	c.697_699delAAG	c.(697-699)aagdel	p.K235del	ATF1_ENST00000539132.1_In_Frame_Del_p.K100del	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	235	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|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 DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	ATGTCGCAGAAAGAAGAAAGAAT	0.305			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"E, M"	"EWSR1, FUS"		"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(697-699)del		activating transcription factor 1																																				SO:0001651	inframe_deletion	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51213443_51213445delAAG	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.697_699delAAG	12.37:g.51213446_51213448delAAG	ENSP00000262053:p.Lys235del					ATF1_ENST00000539132.1_In_Frame_Del_p.K100del	p.K235del	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			7	719_721	+			235					B4DRF9|P25168|Q9H4A8	In_Frame_Del	DEL	ENST00000262053.3	37	c.697_699delAAG	CCDS8803.1																																																																																				0.305	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		8	101						8	101	---	---	---	---	-	51213445	AAG	-	51213443	7	5	451	1	0	1	0	1	0	0	0	0	1079	15	1	0	719	0	ATF1	12	51213443	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	19076777	51213443	82638452	60	37837											
OR6C2	341416	broad.mit.edu	37	chr12	55846632	55846632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatcaccctagtttgtgTgattctgtcctacttgtaca	6	10	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:55846632T>C	ENST00000322678.1	+	1	635	c.635T>C	c.(634-636)gTg>gCg	p.V212A	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	212					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)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTAGTTTGTGTGATTCTGTCC	0.408																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(634-636)gTg>gCg		olfactory receptor, family 6, subfamily C, member 2							176	166	170					12																	55846632		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846632T>C	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.635T>C	12.37:g.55846632T>C	ENSP00000323606:p.Val212Ala					RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	p.V212A	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	635	+			212						Missense_Mutation	SNP	ENST00000322678.1	37	c.635T>C	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635111	0.67130	.	.	ENSG00000179695	ENST00000322678	T	0.00198	8.57	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	T	0.00695	0.0023	M	0.88512	2.96	0.09310	N	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.36187	-0.9758	10	0.87932	D	0	.	14.4208	0.67183	0.0:0.0:0.0:1.0	.	212	Q9NZP2	OR6C2_HUMAN	A	212	ENSP00000323606:V212A	ENSP00000323606:V212A	V	+	2	0	OR6C2	54132899	0.000000	0.05858	0.385000	0.26158	0.057000	0.15508	0.075000	0.14686	2.275000	0.75901	0.496000	0.49642	GTG		0.408	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		44	178	0	0	0	1	0	44	178					C	55846632	T	C	55846632	3	2	451	1	0	0	0	0	1	0	0	0	11191	1696	59	3	637	3	OR6C2	12	55846632	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	4633189	55846632	78005263	61	37838											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75741494	75741494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatatttgtatgcaactaCggacctgcgtgagttatttt	9	7	0	1	rs534996290		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:75741494C>T	ENST00000378695.4	+	3	603	c.513C>T	c.(511-513)taC>taT	p.Y171Y	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.Y171Y			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	171	SCP.				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						TATGCAACTACGGACCTGCGT	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12715	0.0		0.0	False		,,,				2504	0.0					ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(511-513)taC>taT		GLI pathogenesis-related 1 like 1							126	120	122					12																	75741494		2203	4300	6503	SO:0001819	synonymous_variant	256710					extracellular region		g.chr12:75741494C>T	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.513C>T	12.37:g.75741494C>T						GLIPR1L1_ENST00000378695.4_Silent_p.Y171Y|CAPS2_ENST00000442339.2_Intron	p.Y171Y	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			3	559	+			171					Q96L06	Silent	SNP	ENST00000378695.4	37	c.513C>T																																																																																					0.358	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		4	169	0	0	0	1	0	4	169					T	75741494	C	T	75741494	2	4	451	1	0	0	0	0	0	0	0	1	6442	547	19	1		1	GLIPR1L1	12	75741494	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	19894862	75741494	58110401	62	37839											
CCDC41	51134	broad.mit.edu	37	chr12	94805603	94805603	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcttgagttcattttgtaacTttacatgttcattctgcaac	6	8	3	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:94805603T>A	ENST00000397809.5	-	4	743	c.194A>T	c.(193-195)aAg>aTg	p.K65M	CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		57					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTTTGTAACTTTACATGTTC	0.318																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(193-195)aAg>aTg		coiled-coil domain containing 41							93	81	85					12																	94805603		1802	4070	5872	SO:0001583	missense	51134							g.chr12:94805603T>A																												ENST00000397809.5:c.194A>T	12.37:g.94805603T>A	ENSP00000380911:p.Lys65Met					CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M	p.K65M	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			4	743	-			57					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.194A>T	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879841	0.51801	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.64085	0.63;0.63;0.66;-0.08	4.86	4.86	0.63082	.	.	.	.	.	T	0.76169	0.3950	M	0.62723	1.935	0.39184	D	0.962833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.98;0.999	T	0.80441	-0.1381	9	0.72032	D	0.01	-6.5828	14.4105	0.67113	0.0:0.0:0.0:1.0	.	65;32;57	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	M	65;65;32;65	ENSP00000344655:K65M;ENSP00000380911:K65M;ENSP00000380909:K32M;ENSP00000448913:K65M	ENSP00000344655:K65M	K	-	2	0	CCDC41	93329734	1.000000	0.71417	0.723000	0.30687	0.481000	0.33189	2.195000	0.42677	1.942000	0.56320	0.533000	0.62120	AAG		0.318	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			13	96	0	0	0	1	0	13	96					A	94805603	T	A	94805603	3	1	451	1	0	0	0	0	1	0	0	0	2813	1609	56	5	1967	5	CCDC41	12	94805603	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	19064109	94805603	39046292	63	37840											
PSME1	5720	broad.mit.edu	37	chr14	24606348	24606351	+	Splice_Site	DEL	ACAG	ACAG	-													cctccacccccacctcacacAcagacagagaacctgctcgg							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:24606348_24606351delACAG	ENST00000206451.6	+	3	177		c.e3-1		RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000559123.1_Splice_Site|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000561435.1_Splice_Site|PSME1_ENST00000382708.3_Splice_Site	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)						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)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CACCTCACACACAGACAGAGAACC	0.574																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.e3-1		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)																																				SO:0001630	splice_region_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24606348_24606351delACAG		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.73-1ACAG>-	14.37:g.24606352_24606355delACAG						PSME1_ENST00000206451.6_Splice_Site|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000561435.1_Splice_Site|PSME1_ENST00000559123.1_Splice_Site		NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	3	135	+								A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Splice_Site	DEL	ENST00000206451.6	37		CCDS9612.1																																																																																				0.574	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263	Intron	11	259						11	259	---	---	---	---	-	24606351	ACAG	-	24606348	8	5	451	1	0	1	0	1	0	0	1	0	12706	174	6	0		0	PSME1	14	24606348	Splice_Site	DEL	ACAG	TCGA-S9-A7QZ-01A-12D-A34J-08		24606348	82743192	64	37841											
DAAM1	23002	broad.mit.edu	37	chr14	59798010	59798010	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcctctgtgcctggatctctCcttcctcccccaccaccccc	4	23	2	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:59798010C>A	ENST00000395125.1	+	13	1667	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	DAAM1_ENST00000351081.1_Silent_p.L548L|DAAM1_ENST00000360909.3_Silent_p.L548L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	548	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGGATCTCTCCTTCCTCCCC	0.637																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1642-1644)ctC>ctA		dishevelled associated activator of morphogenesis 1							73	75	74					14																	59798010		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59798010C>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1644C>A	14.37:g.59798010C>A						DAAM1_ENST00000351081.1_Silent_p.L548L|DAAM1_ENST00000360909.3_Silent_p.L548L	p.L548L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	13	1667	+			548			FH1.|Pro-rich.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.1644C>A	CCDS9737.1																																																																																				0.637	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		39	43	1	0	3.54909e-21	1	3.76098e-21	39	43					A	59798010	C	A	59798010	2	1	451	1	0	0	0	0	0	0	0	1	4215	842	30	4		4	DAAM1	14	59798010	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	35191662	59798010	47551530	65	37842											
YLPM1	56252	broad.mit.edu	37	chr14	75265962	75265963	+	Frame_Shift_Del	DEL	CA	CA	-													accactggatgaacaagaatCacagtttcgtgaacgggata					rs371578628		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:75265962_75265963delCA	ENST00000325680.7	+	5	4086_4087	c.3962_3963delCA	c.(3961-3963)tcafs	p.S1321fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1126					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAAGAATCACAGTTTCGTG	0.446																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3961-3963)tfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265962_75265963delCA	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3962_3963delCA	14.37:g.75265964_75265965delCA	ENSP00000324463:p.Ser1321fs					YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron	p.S1321fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4086_4087	+			1126					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000325680.7	37	c.3962_3963delCA	CCDS45135.1																																																																																				0.446	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		8	76						8	76	---	---	---	---	-	75265963	CA	-	75265962	7	5	451	1	0	1	0	1	0	0	0	0	17483	838	29	0	3980	0	YLPM1	14	75265962	Frame_Shift_Del	DEL	CA	TCGA-S9-A7QZ-01A-12D-A34J-08	15467952	75265962	32083578	66	37843											
RTF1	23168	broad.mit.edu	37	chr15	41749919	41749920	+	Frame_Shift_Del	DEL	AG	AG	-													tcctcttccagttcagattcAgactcttcctcagaagatga							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:41749919_41749920delAG	ENST00000389629.4	+	4	519_520	c.507_508delAG	c.(505-510)tcagacfs	p.D170fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	170	Ser-rich.				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)		GTTCAGATTCAGACTCTTCCTC	0.485																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(505-510)tcacfs		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41749919_41749920delAG	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.507_508delAG	15.37:g.41749919_41749920delAG	ENSP00000374280:p.Asp170fs						p.SD169fs	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	519_520	+		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)	169			Ser-rich.		Q96BX6	Frame_Shift_Del	DEL	ENST00000389629.4	37	c.507_508delAG	CCDS32200.2																																																																																				0.485	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		54	157						54	157	---	---	---	---	-	41749920	AG	-	41749919	7	5	451	1	0	1	0	1	0	0	0	0	13721	175	7	0	521	0	RTF1	15	41749919	Frame_Shift_Del	DEL	AG	TCGA-S9-A7QZ-01A-12D-A34J-08		41749919	60781473	67	37844											
MGA	23269	broad.mit.edu	37	chr15	42005362	42005362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttaggcatccctcaaaaCtaaacctatccacacaatca	2	14	2	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:42005362C>T	ENST00000570161.1	+	8	3098	c.3098C>T	c.(3097-3099)aCt>aTt	p.T1033I	MGA_ENST00000566586.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I|MGA_ENST00000219905.7_Missense_Mutation_p.T1033I			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)	TCCCTCAAAACTAAACCTATC	0.448																																						ENST00000219905.7																			0				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						c.(3097-3099)aCt>aTt		MGA, MAX dimerization protein							134	129	131					15																	42005362		1934	4128	6062	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42005362C>T	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.3098C>T	15.37:g.42005362C>T	ENSP00000457035:p.Thr1033Ile					MGA_ENST00000570161.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I|MGA_ENST00000566586.1_Missense_Mutation_p.T1033I	p.T1033I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		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)	9	3279	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1033					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3098C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898176	0.72639	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18338	2.22;2.22;2.22	5.86	4.95	0.65309	.	0.422389	0.26421	N	0.024461	T	0.20292	0.0488	L	0.27053	0.805	0.26986	N	0.96525	P;D	0.69078	0.462;0.997	B;P	0.59115	0.103;0.852	T	0.08953	-1.0697	10	0.87932	D	0	.	4.9655	0.14089	0.2725:0.5415:0.1133:0.0727	.	1033;1033	F5H7K2;E7ENI0	.;.	I	1033	ENSP00000219905:T1033I;ENSP00000374586:T1033I;ENSP00000442467:T1033I	ENSP00000219905:T1033I	T	+	2	0	MGA	39792654	0.989000	0.36119	1.000000	0.80357	0.992000	0.81027	0.494000	0.22467	1.488000	0.48433	0.655000	0.94253	ACT		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		27	122	0	0	0	1	0	27	122					T	42005362	C	T	42005362	3	4	451	1	0	0	0	0	1	0	0	0	9540	565	20	2	3128	2	MGA	15	42005362	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	255443	42005362	60526030	68	37845											
TPM1	7168	broad.mit.edu	37	chr15	63335041	63335043	+	In_Frame_Del	DEL	AAG	AAG	-													ccgccaccatggacgccatcAagaagaagatgcagatgctg							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:63335041_63335043delAAG	ENST00000403994.3	+	1	93_95	c.13_15delAAG	c.(13-15)aagdel	p.K7del	TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000288398.6_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000357980.4_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	7					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GGACGCCATCAAGAAGAAGATGC	0.69																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(13-15)del		tropomyosin 1 (alpha)																																				SO:0001651	inframe_deletion	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63335041_63335043delAAG	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"Tropomyosins"	12010	protein-coding gene	gene with protein product		191010	"chromosome 15 open reading frame 13", "cardiomyopathy, hypertrophic 3"	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.13_15delAAG	15.37:g.63335047_63335049delAAG	ENSP00000385107:p.Lys7del					TPM1_ENST00000288398.6_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000403994.3_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del	p.K7del			P09493	TPM1_HUMAN			1	92_94	+			7					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	In_Frame_Del	DEL	ENST00000403994.3	37	c.13_15delAAG	CCDS45273.1																																																																																				0.69	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004		7	35						7	35	---	---	---	---	-	63335043	AAG	-	63335041	7	5	451	1	0	1	0	1	0	0	0	0	16402	131	5	0	15	0	TPM1	15	63335041	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	21329679	63335041	39196351	69	37846											
C15orf39	56905	broad.mit.edu	37	chr15	75498581	75498581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtctgagcagttggcGtcctggaccccatacccacc	11	16	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:75498581G>A	ENST00000360639.2	+	2	512	c.192G>A	c.(190-192)gcG>gcA	p.A64A	C15orf39_ENST00000394987.4_Silent_p.A64A|C15orf39_ENST00000567617.1_Silent_p.A64A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	64						cytoplasm (GO:0005737)		p.A64A(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAGTTGGCGTCCTGGACCC	0.597																																						ENST00000360639.2																			1	Substitution - coding silent(1)	p.A64A(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(190-192)gcG>gcA		chromosome 15 open reading frame 39							112	71	85					15																	75498581		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75498581G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.192G>A	15.37:g.75498581G>A						C15orf39_ENST00000394987.4_Silent_p.A64A|C15orf39_ENST00000567617.1_Silent_p.A64A	p.A64A			Q6ZRI6	CO039_HUMAN			2	512	+			64					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.192G>A	CCDS10276.1																																																																																				0.597	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		7	33	0	0	0	1	0	7	33					A	75498581	G	A	75498581	2	1	451	1	0	0	0	0	0	0	0	1	1793	1132	40	1		1	C15orf39	15	75498581	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	12163540	75498581	27032811	70	37847											
ADCY9	115	broad.mit.edu	37	chr16	4164385	4164387	+	In_Frame_Del	DEL	CTC	CTC	-													ctcttgacagaattctcactCtcctcatctccctgcttcat					rs369684993		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:4164385_4164387delCTC	ENST00000294016.3	-	2	1595_1597	c.1057_1059delGAG	c.(1057-1059)gagdel	p.E353del		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	353					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						AATTCTCACTCTCCTCATCTCCC	0.478																																						ENST00000294016.3																			0				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						c.(1057-1059)del		adenylate cyclase 9																																				SO:0001651	inframe_deletion	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164385_4164387delCTC	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.1057_1059delGAG	16.37:g.4164388_4164390delCTC	ENSP00000294016:p.Glu353del						p.E353del	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1595_1597	-			353					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	In_Frame_Del	DEL	ENST00000294016.3	37	c.1057_1059delGAG	CCDS32382.1																																																																																				0.478	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			44	128						44	128	---	---	---	---	-	4164387	CTC	-	4164385	7	5	451	1	0	1	0	1	0	0	0	0	301	912	32	0	3042	0	ADCY9	16	4164385	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08		4164385	86190368	71	37848											
TXNDC11	51061	broad.mit.edu	37	chr16	11773509	11773512	+	Frame_Shift_Del	DEL	TCTC	TCTC	-													ttctgctctcagtttctggaTctctctctccaagtgggaga							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:11773509_11773512delTCTC	ENST00000356957.3	-	13	2604_2607	c.2497_2500delGAGA	c.(2497-2502)gagatcfs	p.EI833fs	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	833					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTTTCTGGATCTCTCTCTCCAAG	0.588																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2497-2502)tcfs		thioredoxin domain containing 11																																				SO:0001589	frameshift_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773509_11773512delTCTC	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2497_2500delGAGA	16.37:g.11773513_11773516delTCTC	ENSP00000349439:p.Glu833fs					TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs|TXNDC11_ENST00000570917.1_5'UTR	p.EI833fs			Q6PKC3	TXD11_HUMAN			13	2604_2607	-			833					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Frame_Shift_Del	DEL	ENST00000356957.3	37	c.2497_2500delGAGA																																																																																					0.588	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		16	77						16	77	---	---	---	---	-	11773512	TCTC	-	11773509	7	5	451	1	0	1	0	1	0	0	0	0	16789	1435	50	0	461	0	TXNDC11	16	11773509	Frame_Shift_Del	DEL	TCTC	TCGA-S9-A7QZ-01A-12D-A34J-08	7609124	11773509	78581244	72	37849											
RRAD	6236	broad.mit.edu	37	chr16	66956055	66956055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttacgagctacgatgCggcccaagaagcgcttcgcc	13	13	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:66956055C>T	ENST00000299759.6	-	5	1101	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RRAD_ENST00000420652.1_Missense_Mutation_p.R284H			P55042	RAD_HUMAN	Ras-related associated with diabetes	284	Calmodulin-binding.				small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCTACGATGCGGCCCAAGAA	0.612																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(850-852)cGc>cAc		Ras-related associated with diabetes							84	69	74					16																	66956055		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956055C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.851G>A	16.37:g.66956055C>T	ENSP00000299759:p.Arg284His					RRAD_ENST00000420652.1_Missense_Mutation_p.R284H	p.R284H			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	1101	-		Ovarian(137;0.192)	284			Calmodulin-binding.		Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.851G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128202	0.94473	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.67523	-0.27;-0.27	5.93	5.93	0.95920	.	0.046453	0.85682	D	0.000000	T	0.77287	0.4108	M	0.62723	1.935	0.58432	D	0.999994	D	0.76494	0.999	D	0.63033	0.91	T	0.78107	-0.2333	10	0.62326	D	0.03	.	13.5161	0.61541	0.0:0.929:0.0:0.071	.	284	P55042	RAD_HUMAN	H	284	ENSP00000388744:R284H;ENSP00000299759:R284H	ENSP00000299759:R284H	R	-	2	0	RRAD	65513556	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.794000	0.55492	2.802000	0.96397	0.561000	0.74099	CGC		0.612	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		4	53	0	0	0	1	0	4	53					T	66956055	C	T	66956055	3	4	451	1	0	0	0	0	1	0	0	0	13671	768	27	1	79	1	RRAD	16	66956055	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	55182546	66956055	23398698	73	37850											
MYO1C	4641	broad.mit.edu	37	chr17	1384090	1384090	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctccagcagctggtagaaGatgtggaagttccgctcccc	11	14	0	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:1384090G>T	ENST00000575158.1	-	6	788	c.612C>A	c.(610-612)atC>atA	p.I204I	MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000545534.2_Silent_p.I215I|MYO1C_ENST00000359786.5_Silent_p.I239I			Q12965	MYO1E_HUMAN	myosin IC	211	Myosin motor.				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)		GCTGGTAGAAGATGTGGAAGT	0.607																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(715-717)atC>atA		myosin IC							97	95	95					17																	1384090		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1384090G>T	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.612C>A	17.37:g.1384090G>T						MYO1C_ENST00000545534.2_Silent_p.I215I|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000575158.1_Silent_p.I204I|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000573198.1_5'UTR	p.I239I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1041	-			239			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.717C>A	CCDS11003.1																																																																																				0.607	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			29	79	1	0	2.65835e-16	1	2.77563e-16	29	79					T	1384090	G	T	1384090	2	4	451	1	0	0	0	0	0	0	0	1	10070	932	33	4		4	MYO1C	17	1384090	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		1384090	79811120	74	37851											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-													ttccactcggataagatgctGaggaggggccagacctaaga					rs587778718		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7578275_7578277delGAG	ENST00000269305.4	-	6	761_763	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000420246.2_In_Frame_Del_p.P191del|TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del|TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_In_Frame_Del_p.P191del	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	191	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)	ATAAGATGCTGAGGAGGGGCCAG	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		156	Substitution - Nonsense(95)|Deletion - In frame(23)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Substitution - Missense(6)|Insertion - Frameshift(2)|Complex - frameshift(1)|Substitution - coding silent(1)	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)	breast(27)|ovary(21)|urinary_tract(15)|lung(13)|upper_aerodigestive_tract(12)|large_intestine(9)|skin(9)|oesophagus(8)|biliary_tract(7)|haematopoietic_and_lymphoid_tissue(6)|kidney(6)|stomach(5)|liver(5)|bone(4)|central_nervous_system(3)|pancreas(2)|cervix(1)|endometrium(1)|eye(1)|prostate(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	GRCh37	CD972478	TP53	D		c.(571-576)cag>c	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578275_7578277delGAG	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.572_574delCTC	17.37:g.7578278_7578280delGAG	ENSP00000269305:p.Pro191del	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)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del	p.PQ191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	704_706	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	191		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	In_Frame_Del	DEL	ENST00000269305.4	37	c.572_574delCTC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	60						11	60	---	---	---	---	-	7578277	GAG	-	7578275	7	5	451	1	0	1	0	1	0	0	0	0	16378	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-S9-A7QZ-01A-12D-A34J-08	6194185	7578275	73616935	75	37852											
B9D1	27077	broad.mit.edu	37	chr17	19251097	19251097	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcagaatgaggacctacCggccaggtgagaagggcacg	16	9	1	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:19251097C>T	ENST00000261499.4	-	4	484	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	B9D1_ENST00000477478.2_Splice_Site_p.G90S|B9D1_ENST00000268841.6_Splice_Site_p.R114Q|B9D1_ENST00000461069.2_Splice_Site_p.R114Q|B9D1_ENST00000575403.1_Splice_Site_p.G90S|B9D1_ENST00000395615.1_Splice_Site_p.R114Q|B9D1_ENST00000395616.3_Splice_Site_p.R114Q	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	114	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				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)					GAGGACCTACCGGCCAGGTGA	0.587																																						ENST00000477478.2																			0				large_intestine(3)|urinary_tract(1)	4						c.e4+1		B9 protein domain 1							81	55	64					17																	19251097		2203	4300	6503	SO:0001630	splice_region_variant	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19251097C>T	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.341+1G>A	17.37:g.19251097C>T						B9D1_ENST00000268841.6_Splice_Site_p.R114_splice|B9D1_ENST00000575403.1_Splice_Site_p.G90_splice|B9D1_ENST00000461069.2_Splice_Site_p.R114_splice|B9D1_ENST00000395616.3_Splice_Site_p.R114_splice|B9D1_ENST00000395615.1_Splice_Site_p.R114_splice|B9D1_ENST00000261499.4_Splice_Site_p.R114_splice	p.G90_splice			Q9UPM9	B9D1_HUMAN			4	601	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		0			B9.		Q9BU22	Splice_Site	SNP	ENST00000261499.4	37	c.268_splice	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998423	0.54147	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.43	5.43	0.79202	.	0.222293	0.45867	D	0.000324	T	0.50667	0.1629	L	0.29908	0.895	0.47819	D	0.999524	B	0.24823	0.112	B	0.18561	0.022	T	0.45673	-0.9245	9	.	.	.	.	10.2721	0.43489	0.0:0.9094:0.0:0.0906	.	114	Q9UPM9	B9D1_HUMAN	Q	114;114;114;114;105	ENSP00000378977:R114Q;ENSP00000261499:R114Q;ENSP00000378978:R114Q;ENSP00000268841:R114Q;ENSP00000410835:R105Q	.	R	-	2	0	B9D1	19191690	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.943000	0.56621	2.536000	0.85505	0.561000	0.74099	CGG		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681	Missense_Mutation	8	32	0	0	0	1	0	8	32					T	19251097	C	T	19251097	5	4	451	1	0	0	0	0	0	0	1	0	1277	666	23	1	289	1	B9D1	17	19251097	Splice_Site	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	11672822	19251097	61944113	76	37853											
RNF43	54894	broad.mit.edu	37	chr17	56440939	56440939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagaggacagcactggctCctcgctcacccgccatccga	9	17	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:56440939C>T	ENST00000584437.1	-	3	2353	c.398G>A	c.(397-399)gGa>gAa	p.G133E	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000500597.2_Missense_Mutation_p.G92E			Q68DV7	RNF43_HUMAN	ring finger protein 43	133					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCACTGGCTCCTCGCTCACC	0.612																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(397-399)gGa>gAa		ring finger protein 43							85	79	81					17																	56440939		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440939C>T		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.398G>A	17.37:g.56440939C>T	ENSP00000463069:p.Gly133Glu					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000500597.2_Missense_Mutation_p.G92E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E	p.G133E			Q68DV7	RNF43_HUMAN			3	2353	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		133					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.398G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342228	0.95783	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.17370	2.28;2.41	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.36672	1.1	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	0.04840	-1.0923	10	0.87932	D	0	-6.1508	17.7398	0.88404	0.0:1.0:0.0:0.0	.	92;133;133	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	E	133;92	ENSP00000385328:G133E;ENSP00000441969:G92E	ENSP00000385328:G133E	G	-	2	0	RNF43	53795938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.995000	0.76257	2.531000	0.85337	0.591000	0.81541	GGA		0.612	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		6	133	0	0	0	1	0	6	133					T	56440939	C	T	56440939	3	4	451	1	0	0	0	0	1	0	0	0	13495	855	30	2	1981	2	RNF43	17	56440939	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	37189842	56440939	24754271	77	37854											
SCN4A	6329	broad.mit.edu	37	chr17	62045570	62045570	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgttgaacggcgggggCcagcgcacacacttctgcct	14	13	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:62045570C>T	ENST00000435607.1	-	6	925	c.849G>A	c.(847-849)tgG>tgA	p.W283*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.W283*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	283					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)	ACGGCGGGGGCCAGCGCACAC	0.547																																						ENST00000578147.1																			0				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						c.(847-849)tgG>tgA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						157	161	160					17																	62045570		2177	4278	6455	SO:0001587	stop_gained	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045570C>T	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.849G>A	17.37:g.62045570C>T	ENSP00000396320:p.Trp283*					SCN4A_ENST00000435607.1_Nonsense_Mutation_p.W283*	p.W283*			P35499	SCN4A_HUMAN			6	925	-			283					Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	c.849G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	38	6.804615	0.97849	.	.	ENSG00000007314	ENST00000435607	.	.	.	5.21	5.21	0.72293	.	0.245745	0.45361	D	0.000375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000396320:W283X	W	-	3	0	SCN4A	59399302	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.422000	0.59854	2.717000	0.92951	0.655000	0.94253	TGG		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		6	140	0	0	0	1	0	6	140					T	62045570	C	T	62045570	4	4	451	1	0	0	0	0	0	1	0	0	13920	740	26	2	4737	2	SCN4A	17	62045570	Nonsense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	5604631	62045570	19149640	78	37855											
CEP192	55125	broad.mit.edu	37	chr18	13095576	13095578	+	In_Frame_Del	DEL	CTC	CTC	-													agtcaaaggtcctcagggttCtcctcttctctcacgggcgg							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr18:13095576_13095578delCTC	ENST00000325971.8	+	33	6134_6136	c.4541_4543delCTC	c.(4540-4545)tctcct>tct	p.P1515del	CEP192_ENST00000430049.2_In_Frame_Del_p.P1636del|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_In_Frame_Del_p.P2111del			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1515					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						CCTCAGGGTTCTCCTCTTCTCTC	0.512																																						ENST00000506447.1																			0				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						c.(6328-6333)tct>t		centrosomal protein 192kDa																																				SO:0001651	inframe_deletion	55125							g.chr18:13095576_13095578delCTC	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.4541_4543delCTC	18.37:g.13095579_13095581delCTC	ENSP00000317156:p.Pro1515del					CEP192_ENST00000325971.8_In_Frame_Del_p.SP1514del|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_In_Frame_Del_p.SP1635del	p.SP2110del	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			35	6409_6411	+			1705					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	In_Frame_Del	DEL	ENST00000325971.8	37	c.6329_6331delCTC																																																																																					0.512	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		36	182						36	182	---	---	---	---	-	13095578	CTC	-	13095576	7	5	451	1	0	1	0	1	0	0	0	0	3251	913	32	0	6463	0	CEP192	18	13095576	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08		13095576	64981672	79	37856											
MIER2	54531	broad.mit.edu	37	chr19	307470	307470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccctggctccgaggacGggagtccatcagaggccact	14	14	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:307470G>A	ENST00000264819.4	-	13	1275	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P422L(1)		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)		CTCCGAGGACGGGAGTCCATC	0.662																																						ENST00000264819.4																			1	Substitution - Missense(1)	p.P422L(1)	endometrium(1)	endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1264-1266)cCg>cTg		mesoderm induction early response 1, family member 2							13	15	15					19																	307470		2202	4296	6498	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:307470G>A	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.1265C>T	19.37:g.307470G>A	ENSP00000264819:p.Pro422Leu						p.P422L	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		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)	13	1275	-		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)	422					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.1265C>T	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373497	0.24857	.	.	ENSG00000105556	ENST00000264819	T	0.14766	2.48	3.66	0.207	0.15214	.	1.298600	0.05895	N	0.629008	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.27068	0.167	B	0.11329	0.006	T	0.36841	-0.9731	10	0.45353	T	0.12	-15.2333	7.0404	0.25017	0.3001:0.0:0.6999:0.0	.	422	Q8N344	MIER2_HUMAN	L	422	ENSP00000264819:P422L	ENSP00000264819:P422L	P	-	2	0	MIER2	258470	0.285000	0.24296	0.002000	0.10522	0.005000	0.04900	0.802000	0.27069	0.039000	0.15632	-0.251000	0.11542	CCG		0.662	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		4	11	0	0	0	1	0	4	11					A	307470	G	A	307470	3	1	451	1	0	0	0	0	1	0	0	0	9581	1116	39	1	380	1	MIER2	19	307470	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		307470	58821513	80	37857											
ATP8B3	148229	broad.mit.edu	37	chr19	1791999	1791999	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccatctcgttgtacaCctgttgcagggcctgtgccc	10	15	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:1791999C>G	ENST00000310127.6	-	19	2429		c.e19+1		ATP8B3_ENST00000539485.1_Missense_Mutation_p.V731L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3						binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|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)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCGTTGTACACCTGTTGCAGG	0.687																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2191-2193)Gtg>Ctg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							14	15	15					19																	1791999		1912	4086	5998	SO:0001630	splice_region_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1791999C>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2190+1G>C	19.37:g.1791999C>G						ATP8B3_ENST00000310127.6_Splice_Site|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L	p.V731L			O60423	AT8B3_HUMAN		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)	19	2424	-		Hepatocellular(1079;0.137)	730					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2191G>C	CCDS45901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.026|0.026	-1.369497|-1.369497	0.01225|0.01225	.|.	.|.	ENSG00000130270|ENSG00000130270	ENST00000310127|ENST00000539485;ENST00000525591	.|T;T	.|0.80653	.|-1.4;-1.4	4.58|4.58	-5.1|-5.1	0.02911|0.02911	.|.	.|0.744172	.|0.12517	.|N	.|0.461995	.|T	.|0.60011	.|0.2236	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999993|0.999993	.|B	.|0.15719	.|0.014	.|B	.|0.17098	.|0.017	.|T	.|0.48055	.|-0.9068	.|9	.|0.16896	.|T	.|0.51	.|.	8.9451|8.9451	0.35753|0.35753	0.1054:0.27:0.5546:0.0699|0.1054:0.27:0.5546:0.0699	.|.	.|684	.|Q7Z485	.|.	.|L	-1|731;684	.|ENSP00000443574:V731L;ENSP00000437115:V684L	.|ENSP00000437115:V684L	.|V	-|-	.|1	.|0	ATP8B3|ATP8B3	1742999|1742999	0.000000|0.000000	0.05858|0.05858	0.440000|0.440000	0.26846|0.26846	0.011000|0.011000	0.07611|0.07611	-0.740000|-0.740000	0.04861|0.04861	-0.677000|-0.677000	0.05231|0.05231	-0.321000|-0.321000	0.08615|0.08615	.|GTG		0.687	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	Intron	5	7	0	0	0	1	0	5	7					G	1791999	C	G	1791999	5	3	451	1	0	0	0	0	0	0	1	0	1196	521	18	4	1785	4	ATP8B3	19	1791999	Splice_Site	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1484529	1791999	57336984	81	37858											
AP3D1	8943	broad.mit.edu	37	chr19	2111786	2111788	+	In_Frame_Del	DEL	CTT	CTT	-													ttgcctttggtccgctcctcCttctccttcctgtgcttctt					rs376574497		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:2111786_2111788delCTT	ENST00000345016.5	-	23	2872_2874	c.2641_2643delAAG	c.(2641-2643)aagdel	p.K881del	AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del|AP3D1_ENST00000355272.6_In_Frame_Del_p.K943del|AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	881	Lys-rich.				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)		tccgctcctccttctccttcctg	0.616																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2827-2829)del		adaptor-related protein complex 3, delta 1 subunit																																				SO:0001651	inframe_deletion	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2111786_2111788delCTT	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.2641_2643delAAG	19.37:g.2111786_2111788delCTT	ENSP00000344055:p.Lys881del					AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del|AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del|AP3D1_ENST00000345016.5_In_Frame_Del_p.K881del	p.K943del	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		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)	25	3033_3035	-		Hepatocellular(1079;0.137)	883					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	In_Frame_Del	DEL	ENST00000345016.5	37	c.2827_2829delAAG	CCDS42459.1																																																																																				0.616	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			12	24						12	24	---	---	---	---	-	2111788	CTT	-	2111786	7	5	451	1	0	1	0	1	0	0	0	0	746	680	24	0	850	0	AP3D1	19	2111786	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	319787	2111786	57017197	82	37859											
TNFSF14	8740	broad.mit.edu	37	chr19	6665024	6665024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacggacgaccaccttctcCccagcctccaggtgtaccac	7	19	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:6665024C>T	ENST00000599359.1	-	5	1017	c.636G>A	c.(634-636)ggG>ggA	p.G212G	TNFSF14_ENST00000245912.3_Silent_p.G176G|TNFSF14_ENST00000326176.9_Silent_p.G176G			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	212					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCACCTTCTCCCCAGCCTCCA	0.627																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(526-528)ggG>ggA		tumor necrosis factor (ligand) superfamily, member 14							133	112	119					19																	6665024		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665024C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.636G>A	19.37:g.6665024C>T						TNFSF14_ENST00000599359.1_Silent_p.G212G|TNFSF14_ENST00000245912.3_Silent_p.G176G	p.G176G	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	909	-			212					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.528G>A	CCDS12171.1																																																																																				0.627	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			6	85	0	0	0	1	0	6	85					T	6665024	C	T	6665024	2	4	451	1	0	0	0	0	0	0	0	1	16304	610	22	2		2	TNFSF14	19	6665024	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	4553238	6665024	52463959	83	37860											
OR10H1	26539	broad.mit.edu	37	chr19	15918425	15918425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcccaccaggcaggcGcagccccgcgggctcatgag	15	16	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:15918425G>A	ENST00000334920.2	-	1	511	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	141						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						CCAGGCAGGCGCAGCCCCGCG	0.647																																						ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(421-423)tgC>tgT		olfactory receptor, family 10, subfamily H, member 1							89	74	79					19																	15918425		2203	4300	6503	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918425G>A	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.423C>T	19.37:g.15918425G>A							p.C141C	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	511	-			141					Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.423C>T	CCDS12335.1																																																																																				0.647	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			10	94	0	0	0	1	0	10	94					A	15918425	G	A	15918425	2	1	451	1	0	0	0	0	0	0	0	1	10905	1079	38	1		1	OR10H1	19	15918425	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	9253401	15918425	43210558	84	37861											
CYP4F11	57834	broad.mit.edu	37	chr19	16038092	16038092	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaaatggaaggcaggcGtcaacatccgacggtggcgg	16	8	1	1	rs145564844		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:16038092G>A	ENST00000591841.1	-	0	739				CYP4F11_ENST00000326742.8_Missense_Mutation_p.T152M|CYP4F11_ENST00000402119.4_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.8_Missense_Mutation_p.T152M					cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAAGGCAGGCGTCAACATCCG	0.552													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0					ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(454-456)aCg>aTg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	MET/THR,MET/THR	3,4403	6.2+/-15.9	0,3,2200	93	89	90		455,455	2.6	1	19	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	81,81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	possibly-damaging,possibly-damaging	152/525,152/525	16038092	4,13002	2203	4300	6503			57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038092G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"Cytochrome P450s"	13265	protein-coding gene	gene with protein product		611517	"cytochrome P450, subfamily IVF, polypeptide 11"			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000591841.1:c.-399C>T	19.37:g.16038092G>A						CYP4F11_ENST00000402119.3_Missense_Mutation_p.T152M|CYP4F11_ENST00000248041.7_Missense_Mutation_p.T152M	p.T152M			Q9HBI6	CP4FB_HUMAN			4	456	-			152						Missense_Mutation	SNP	ENST00000591841.1	37	c.455C>T		.	.	.	.	.	.	.	.	.	.	g	12.10	1.835308	0.32421	6.81E-4	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.70631	-0.5;-0.5;-0.5	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	D	0.88040	0.6330	H	0.98276	4.19	0.54753	D	0.999988	D;D	0.71674	0.995;0.998	D;P	0.64687	0.928;0.906	D	0.90633	0.4568	10	0.72032	D	0.01	.	10.8988	0.47038	0.0:0.0:1.0:0.0	.	152;152	F8W978;Q9HBI6	.;CP4FB_HUMAN	M	152	ENSP00000384588:T152M;ENSP00000248041:T152M;ENSP00000319859:T152M	ENSP00000248041:T152M	T	-	2	0	CYP4F11	15899092	1.000000	0.71417	0.995000	0.50966	0.022000	0.10575	6.365000	0.73090	1.435000	0.47434	0.298000	0.19748	ACG		0.552	CYP4F11-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460384.2	NM_021187		15	133	0	0	0	1	0	15	133					A	16038092	G	A	16038092	1	1	451	1	0	1	0	0	0	0	0	0	4186	1145	40	1		1	CYP4F11	19	16038092	De_novo_Start_OutOfFrame	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	119667	16038092	43090891	85	37862											
UBA2	10054	broad.mit.edu	37	chr19	34957913	34957913	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atggagctcagccctccaccTccacaggtgagtatggcccc	10	16	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:34957913T>A	ENST00000246548.4	+	16	1805	c.1735T>A	c.(1735-1737)Tcc>Acc	p.S579T	UBA2_ENST00000439527.2_Missense_Mutation_p.S483T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	579					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCCTCCACCTCCACAGGTGA	0.463																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1447-1449)Tcc>Acc		ubiquitin-like modifier activating enzyme 2							54	47	49					19																	34957913		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34957913T>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1735T>A	19.37:g.34957913T>A	ENSP00000246548:p.Ser579Thr					UBA2_ENST00000246548.4_Missense_Mutation_p.S579T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T	p.S483T			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		16	1945	+	Esophageal squamous(110;0.162)		579					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1447T>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747072	0.69418	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.58797	0.31;1.47	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	N	0.16478	0.41	0.80722	D	1	B	0.27450	0.179	B	0.22386	0.039	T	0.27088	-1.0084	10	0.16896	T	0.51	-7.7963	14.4907	0.67649	0.0:0.0:0.0:1.0	.	579	Q9UBT2	SAE2_HUMAN	T	579;483	ENSP00000246548:S579T;ENSP00000437484:S483T	ENSP00000246548:S579T	S	+	1	0	UBA2	39649753	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	7.067000	0.76741	2.126000	0.65437	0.455000	0.32223	TCC		0.463	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		3	27	0	0	0	1	0	3	27					A	34957913	T	A	34957913	3	1	451	1	0	0	0	0	1	0	0	0	16825	1551	54	5	1797	5	UBA2	19	34957913	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	18919821	34957913	24171070	86	37863											
CIC	23152	broad.mit.edu	37	chr19	42796461	42796462	+	Frame_Shift_Del	DEL	TG	TG	-													tcctgcggcagaatcacctaTgtgcagtcagcgggcgggca							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:42796461_42796462delTG	ENST00000575354.2	+	13	3058_3059	c.3018_3019delTG	c.(3016-3021)tatgtgfs	p.V1007fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1916fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1007fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1007	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1007fs*28(1)		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)				GAATCACCTATGTGCAGTCAGC	0.649			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Deletion - Frameshift(1)	p.V1007fs*28(1)	ovary(1)	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						c.(5743-5748)tatgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796461_42796462delTG	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.3018_3019delTG	19.37:g.42796463_42796464delTG	ENSP00000458663:p.Val1007fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.YV1006fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.YV1006fs	p.YV1915fs			Q96RK0	CIC_HUMAN			14	5813_5814	+		Prostate(69;0.00682)	1006					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5745_5746delTG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	48						36	48	---	---	---	---	-	42796462	TG	-	42796461	7	5	451	1	0	1	0	1	0	0	0	0	3424	1471	51	0	3068	0	CIC	19	42796461	Frame_Shift_Del	DEL	TG	TCGA-S9-A7QZ-01A-12D-A34J-08	7838548	42796461	16332522	87	37864											
ZNF468	90333	broad.mit.edu	37	chr19	53345269	53345272	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gaaactcgaagccatgaatgTctttctcaatttcatggaaa							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:53345269_53345272delTCTT	ENST00000595646.1	-	4	395_398	c.275_278delAAGA	c.(274-279)aaagacfs	p.KD92fs	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	92					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(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCCATGAATGTCTTTCTCAATTTC	0.436																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(274-279)acfs		zinc finger protein 468																																				SO:0001589	frameshift_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345269_53345272delTCTT	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"Zinc fingers, C2H2-type", "-"	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.275_278delAAGA	19.37:g.53345269_53345272delTCTT	ENSP00000470381:p.Lys92fs					ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs	p.KD92fs			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	395_398	-			92					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Frame_Shift_Del	DEL	ENST00000595646.1	37	c.275_278delAAGA	CCDS33094.1																																																																																				0.436	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		19	173						19	173	---	---	---	---	-	53345272	TCTT	-	53345269	7	5	451	1	0	1	0	1	0	0	0	0	17925	1667	58	0	1294	0	ZNF468	19	53345269	Frame_Shift_Del	DEL	TCTT	TCGA-S9-A7QZ-01A-12D-A34J-08	10548808	53345269	5783714	88	37865											
NCOA5	57727	broad.mit.edu	37	chr20	44691371	44691373	+	In_Frame_Del	DEL	GAG	GAG	-													gtgccactattgaagaggctGaggattttggcctgaagctc							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr20:44691371_44691373delGAG	ENST00000290231.6	-	8	1470_1472	c.1306_1308delCTC	c.(1306-1308)ctcdel	p.L436del		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					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)				TGAAGAGGCTGAGGATTTTGGCC	0.586																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1306-1308)del		nuclear receptor coactivator 5																																				SO:0001651	inframe_deletion	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691371_44691373delGAG		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.1306_1308delCTC	20.37:g.44691371_44691373delGAG	ENSP00000290231:p.Leu436del						p.L436del	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1470_1472	-		Myeloproliferative disorder(115;0.0122)	436					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	In_Frame_Del	DEL	ENST00000290231.6	37	c.1306_1308delCTC	CCDS13392.1																																																																																				0.586	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		9	202						9	202	---	---	---	---	-	44691373	GAG	-	44691371	7	5	451	1	0	1	0	1	0	0	0	0	10232	1277	45	0	435	0	NCOA5	20	44691371	In_Frame_Del	DEL	GAG	TCGA-S9-A7QZ-01A-12D-A34J-08		44691371	18334149	89	37866											
MKL1	57591	broad.mit.edu	37	chr22	40807847	40807848	+	Frame_Shift_Del	DEL	TG	TG	-													gccaggggggacccacagacTgtcttcggggatggcttctc							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr22:40807847_40807848delTG	ENST00000355630.3	-	15	2932_2933	c.2342_2343delCA	c.(2341-2343)acafs	p.T781fs	MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs|MKL1_ENST00000396617.3_Frame_Shift_Del_p.DS784fs	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	781	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACCCACAGACTGTCTTCGGGGA	0.589			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2350-2355)gagtfs		megakaryoblastic leukemia (translocation) 1																																				SO:0001589	frameshift_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40807847_40807848delTG	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2342_2343delCA	22.37:g.40807847_40807848delTG	ENSP00000347847:p.Thr781fs					MKL1_ENST00000355630.3_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs	p.DS784fs			Q969V6	MKL1_HUMAN			15	2942_2943	-			0			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Del	DEL	ENST00000355630.3	37	c.2352_2353delCA	CCDS14003.1																																																																																				0.589	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		10	292						10	292	---	---	---	---	-	40807848	TG	-	40807847	7	5	451	1	0	1	0	1	0	0	0	0	9601	1567	55	0	456	0	MKL1	22	40807847	Frame_Shift_Del	DEL	TG	TCGA-S9-A7QZ-01A-12D-A34J-08		40807847	10496719	90	37867											
LAMP2	3920	broad.mit.edu	37	chrX	119580172	119580173	+	Frame_Shift_Del	DEL	AA	AA	-													ttactcaccacagcaaagacAaagtctagatacttaatggt							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:119580172_119580173delAA	ENST00000200639.4	-	6	987_988	c.851_852delTT	c.(850-852)tttfs	p.F284fs	LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs|LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs|LAMP2_ENST00000371335.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	284	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CAGCAAAGACAAAGTCTAGATA	0.411																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(850-852)tfs		lysosomal-associated membrane protein 2																																				SO:0001589	frameshift_variant	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119580172_119580173delAA	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.851_852delTT	X.37:g.119580172_119580173delAA	ENSP00000200639:p.Phe284fs					LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000200639.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs|LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs	p.F284fs	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			6	987_988	-			284			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Frame_Shift_Del	DEL	ENST00000200639.4	37	c.851_852delTT	CCDS14599.1																																																																																				0.411	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			19	103						19	103	---	---	---	---	-	119580173	AA	-	119580172	7	5	451	1	0	1	0	1	0	0	0	0	8618	127	5	0	687	0	LAMP2	23	119580172	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08		119580172	35690388	91	37868											
ACTRT1	139741	broad.mit.edu	37	chrX	127185177	127185180	+	Frame_Shift_Del	DEL	ATCT	ATCT	-													accaatccatgcagagaagcAtctatcaggagaagctgtga							TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:127185177_127185180delATCT	ENST00000371124.3	-	1	1202_1205	c.1006_1009delAGAT	c.(1006-1011)agatgcfs	p.RC336fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCAGAGAAGCATCTATCAGGAGAA	0.52																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(1006-1011)gcfs		actin-related protein T1																																				SO:0001589	frameshift_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185177_127185180delATCT	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1006_1009delAGAT	X.37:g.127185177_127185180delATCT	ENSP00000360165:p.Arg336fs						p.RC336fs	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1202_1205	-			336					Q6X7C1|Q96L10	Frame_Shift_Del	DEL	ENST00000371124.3	37	c.1006_1009delAGAT	CCDS14611.1																																																																																				0.52	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		27	44						27	44	---	---	---	---	-	127185180	ATCT	-	127185177	7	5	451	1	0	1	0	1	0	0	0	0	218	217	8	0	125	0	ACTRT1	23	127185177	Frame_Shift_Del	DEL	ATCT	TCGA-S9-A7QZ-01A-12D-A34J-08	7605005	127185177	28085383	92	37869											
KIAA1522	57648	broad.mit.edu	37	chr1	33235952	33235952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcccagcctcagtccGctcgctggggcgcttctcct	12	18	2	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:33235952G>A	ENST00000373480.1	+	6	1098	c.995G>A	c.(994-996)cGc>cAc	p.R332H	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.R391H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCTCAGTCCGCTCGCTGGGG	0.692																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cGc>cAc		KIAA1522							18	21	20					1																	33235952		2106	4230	6336	SO:0001583	missense	57648							g.chr1:33235952G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.995G>A	1.37:g.33235952G>A	ENSP00000362579:p.Arg332His					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R332H	p.R391H	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1242	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	332			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1172G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727450	0.48833	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.16073	2.37;2.38;2.39	4.33	2.41	0.29592	.	0.088175	0.49305	N	0.000159	T	0.15176	0.0366	L	0.58101	1.795	0.37537	D	0.918151	B;B;B	0.24651	0.045;0.045;0.108	B;B;B	0.16722	0.011;0.016;0.016	T	0.08066	-1.0740	10	0.32370	T	0.25	-5.7686	8.1645	0.31217	0.1879:0.0:0.8121:0.0	.	343;332;391	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	H	391;343;332	ENSP00000383851:R391H;ENSP00000362580:R343H;ENSP00000362579:R332H	ENSP00000362579:R332H	R	+	2	0	KIAA1522	33008539	1.000000	0.71417	0.868000	0.34077	0.828000	0.46876	2.676000	0.46883	0.924000	0.37069	0.561000	0.74099	CGC		0.692	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			3	13	0	0	0	1	0	3	13					A	33235952	G	A	33235952	3	1	452	1	0	0	0	0	1	0	0	0	8238	1087	38	1	1194	1	KIAA1522	1	33235952	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		33235952	216014669	1	37870											
GDAP2	54834	broad.mit.edu	37	chr1	118413222	118413222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgggggatatgatgtaTagtaaggcccgttttcctgt	14	5	0	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:118413222T>C	ENST00000369443.5	-	14	1712	c.1463A>G	c.(1462-1464)tAt>tGt	p.Y488C		NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	488					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)		ATATGATGTATAGTAAGGCCC	0.408																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(1462-1464)tAt>tGt		ganglioside induced differentiation associated protein 2							122	113	116					1																	118413222		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118413222T>C	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.1463A>G	1.37:g.118413222T>C	ENSP00000358451:p.Tyr488Cys						p.Y488C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	14	1712	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	488					Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.1463A>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906780	0.52333	.	.	ENSG00000196505	ENST00000369443	T	0.32753	1.44	5.55	3.18	0.36537	.	0.324779	0.30101	N	0.010408	T	0.09949	0.0244	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06232	-1.0838	10	0.72032	D	0.01	-16.6811	5.786	0.18333	0.1521:0.0789:0.0:0.769	.	488	Q9NXN4	GDAP2_HUMAN	C	488	ENSP00000358451:Y488C	ENSP00000358451:Y488C	Y	-	2	0	GDAP2	118214745	0.999000	0.42202	0.476000	0.27291	0.851000	0.48451	1.060000	0.30530	0.499000	0.27970	0.482000	0.46254	TAT		0.408	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		7	42	0	0	0	1	0	7	42					C	118413222	T	C	118413222	3	2	452	1	0	0	0	0	1	0	0	0	6309	1406	49	3	34	3	GDAP2	1	118413222	Missense_Mutation	SNP	T	TCGA-S9-A7R1-01A-12D-A34J-08	85177270	118413222	130837399	2	37871											
FCRL3	115352	broad.mit.edu	37	chr1	157665283	157665283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacatcctcatgataaaatCggtacaggatcgggggagag	13	7	1	3	rs375378164		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:157665283C>T	ENST00000368184.3	-	8	1538	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	416	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATGATAAAATCGGTACAGGAT	0.587																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1246-1248)cGa>cAa		Fc receptor-like 3							84	83	84					1																	157665283		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665283C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1247G>A	1.37:g.157665283C>T	ENSP00000357167:p.Arg416Gln					FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q	p.R416Q	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			8	1538	-	all_hematologic(112;0.0378)		416			Ig-like C2-type 5.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1247G>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.303266	0.01353	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02812	4.15;4.15	5.3	-7.5	0.01351	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.139170	0.02209	N	0.062940	T	0.00468	0.0015	N	0.10972	0.075	0.09310	N	1	B;B;B	0.19817	0.029;0.039;0.023	B;B;B	0.28784	0.017;0.094;0.014	T	0.41945	-0.9480	10	0.07813	T	0.8	.	9.0225	0.36209	0.1071:0.2772:0.0:0.6158	.	416;321;416	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	416	ENSP00000357169:R416Q;ENSP00000357167:R416Q	ENSP00000292392:R416Q	R	-	2	0	FCRL3	155931907	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	-2.058000	0.01394	-2.347000	0.00620	-1.808000	0.00615	CGA		0.587	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		5	152	0	0	0	1	0	5	152					T	157665283	C	T	157665283	3	4	452	1	0	0	0	0	1	0	0	0	5796	884	31	1	989	1	FCRL3	1	157665283	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	39252061	157665283	91585338	3	37872											
IL1R1	3554	broad.mit.edu	37	chr2	102782633	102782633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcaaagataggctcatcGtgatgaatgtggctgaaaag	13	5	2	4			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:102782633G>A	ENST00000410023.1	+	6	865	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M|IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAGGCTCATCGTGATGAATGT	0.388																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(547-549)Gtg>Atg		interleukin 1 receptor, type I	Anakinra(DB00026)						129	122	124					2																	102782633		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102782633G>A	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.547G>A	2.37:g.102782633G>A	ENSP00000386380:p.Val183Met					IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M|IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M	p.V183M			P14778	IL1R1_HUMAN			6	865	+			183			Ig-like C2-type 2.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.547G>A	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158800	0.78226	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.96	1.63	0.23807	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818862	0.11334	N	0.574733	D	0.82277	0.5002	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.996	D;P;P	0.64144	0.922;0.886;0.806	T	0.68265	-0.5454	10	0.72032	D	0.01	.	5.4392	0.16498	0.2221:0.2525:0.5254:0.0	.	183;183;183	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	M	183;183;183;39;183;183;183	ENSP00000386776:V183M;ENSP00000415366:V183M;ENSP00000387131:V183M;ENSP00000410461:V39M;ENSP00000386478:V183M;ENSP00000386380:V183M;ENSP00000233946:V183M	ENSP00000233946:V183M	V	+	1	0	IL1R1	102149065	0.003000	0.15002	0.002000	0.10522	0.750000	0.42670	0.057000	0.14279	0.294000	0.22547	0.585000	0.79938	GTG		0.388	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			52	43	0	0	0	1	0	52	43					A	102782633	G	A	102782633	3	1	452	1	0	0	0	0	1	0	0	0	7658	1145	40	1	561	1	IL1R1	2	102782633	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		102782633	140416740	4	37873											
LCT	3938	broad.mit.edu	37	chr2	136566483	136566483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagggagaactgcagcattCggtcagcggcttccacatct	11	13	2	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:136566483C>T	ENST00000264162.2	-	8	3444	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1145	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)	CTGCAGCATTCGGTCAGCGGC	0.562																																						ENST00000264162.2																			0				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						c.(3433-3435)cGa>cAa		lactase							71	74	73					2																	136566483		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566483C>T	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.3434G>A	2.37:g.136566483C>T	ENSP00000264162:p.Arg1145Gln						p.R1145Q	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3444	-			1145			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3434G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021165	0.93462	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.37584	1.19	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.88775	2.98	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.68330	-0.5437	10	0.36615	T	0.2	-12.0683	19.7554	0.96287	0.0:1.0:0.0:0.0	.	1145	P09848	LPH_HUMAN	Q	1145;577	ENSP00000264162:R1145Q	ENSP00000264162:R1145Q	R	-	2	0	LCT	136282953	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.818000	0.86416	2.665000	0.90641	0.563000	0.77884	CGA		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	97	0	0	0	1	0	4	97					T	136566483	C	T	136566483	3	4	452	1	0	0	0	0	1	0	0	0	8693	884	31	1	2389	1	LCT	2	136566483	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	33783850	136566483	106632890	5	37874											
HNMT	3176	broad.mit.edu	37	chr2	138722122	138722122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatgttgaatctttccggAggtttctcaaccattccacg	7	10	2	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:138722122A>G	ENST00000280097.3	+	1	243	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	21					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ATCTTTCCGGAGGTTTCTCAA	0.448																																						ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(61-63)Agg>Ggg		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						158	157	157					2																	138722122		2203	4300	6503	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138722122A>G		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.61A>G	2.37:g.138722122A>G	ENSP00000280097:p.Arg21Gly					HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G	p.R21G	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	1	243	+			21					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.61A>G	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093707	0.36952	.	.	ENSG00000150540	ENST00000410115;ENST00000329366;ENST00000280097;ENST00000280096	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.23	4.07	0.47477	.	0.293840	0.39274	N	0.001417	T	0.26521	0.0648	L	0.57536	1.79	0.33423	D	0.580122	P;P;B	0.41848	0.763;0.589;0.113	P;B;B	0.44897	0.463;0.163;0.017	T	0.33111	-0.9881	10	0.34782	T	0.22	-14.7517	5.8669	0.18781	0.582:0.2776:0.0:0.1404	.	21;21;21	P50135-2;Q9BRW6;P50135	.;.;HNMT_HUMAN	G	21	ENSP00000386940:R21G;ENSP00000333259:R21G;ENSP00000280097:R21G;ENSP00000280096:R21G	ENSP00000280096:R21G	R	+	1	2	HNMT	138438592	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.161000	0.42358	2.201000	0.70794	0.459000	0.35465	AGG		0.448	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			5	277	0	0	0	1	0	5	277					G	138722122	A	G	138722122	3	3	452	1	0	0	0	0	1	0	0	0	7255	295	11	3	63	3	HNMT	2	138722122	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08	2155639	138722122	104477251	6	37875											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	60	0	0	0	1	0	42	60					T	209113112	C	T	209113112	3	4	452	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	70390990	209113112	34086261	7	37876											
ZBTB11	27107	broad.mit.edu	37	chr3	101384637	101384637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagtaaaggaaggaagCtggccttacaaaaacctgta	9	8	0	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr3:101384637C>T	ENST00000312938.4	-	4	1374	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	265	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAAGGAAGCTGGCCTTACA	0.323																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(793-795)aGc>aAc		zinc finger and BTB domain containing 11							52	53	53					3																	101384637		2203	4299	6502	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101384637C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.794G>A	3.37:g.101384637C>T	ENSP00000326200:p.Ser265Asn						p.S265N	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	1374	-			265			BTB.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.794G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455895	0.84209	.	.	ENSG00000066422	ENST00000312938	T	0.68765	-0.35	5.82	5.82	0.92795	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79633	-0.1722	10	0.87932	D	0	-10.6613	20.093	0.97828	0.0:1.0:0.0:0.0	.	265	O95625	ZBT11_HUMAN	N	265	ENSP00000326200:S265N	ENSP00000326200:S265N	S	-	2	0	ZBTB11	102867327	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.487000	0.81328	2.756000	0.94617	0.561000	0.74099	AGC		0.323	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		34	61	0	0	0	1	0	34	61					T	101384637	C	T	101384637	3	4	452	1	0	0	0	0	1	0	0	0	17521	797	28	2	2399	2	ZBTB11	3	101384637	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		101384637	96637793	8	37877											
ANXA5	308	broad.mit.edu	37	chr4	122602906	122602906	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagtactttttcatttGttccagctccctgtttggag	8	10	2	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:122602906G>T	ENST00000296511.5	-	6	599	c.314C>A	c.(313-315)aCa>aAa	p.T105K	ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	105					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TTTTTCATTTGTTCCAGCTCC	0.308																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(313-315)aCa>aAa		annexin A5							161	154	156					4																	122602906		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122602906G>T	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.314C>A	4.37:g.122602906G>T	ENSP00000296511:p.Thr105Lys					ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron	p.T105K	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			6	599	-			105					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.314C>A	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464941	0.84425	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272	T;T	0.05855	3.38;3.38	5.91	5.91	0.95273	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.31392	-0.9945	10	0.87932	D	0	.	19.0725	0.93145	0.0:0.0:1.0:0.0	.	45;105;105	D6RBL5;E7ENQ5;P08758	.;.;ANXA5_HUMAN	K	105;105;45	ENSP00000296511:T105K;ENSP00000424106:T45K	ENSP00000296511:T105K	T	-	2	0	ANXA5	122822356	1.000000	0.71417	0.967000	0.41034	0.829000	0.46940	6.738000	0.74822	2.804000	0.96469	0.650000	0.86243	ACA		0.308	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		41	69	1	0	1.56793e-16	1	1.6103e-16	41	69					T	122602906	G	T	122602906	3	4	452	1	0	0	0	0	1	0	0	0	721	1377	48	4	680	4	ANXA5	4	122602906	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		122602906	68551370	9	37878											
ANKRD50	57182	broad.mit.edu	37	chr4	125590881	125590881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaattttttgagcttttcAgggaattatttgacagtgat	9	3	1	4			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:125590881A>G	ENST00000504087.1	-	4	4588	c.3551T>C	c.(3550-3552)cTg>cCg	p.L1184P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1184	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGAGCTTTTCAGGGAATTATT	0.393																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3550-3552)cTg>cCg		ankyrin repeat domain 50							85	88	87					4																	125590881		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590881A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3551T>C	4.37:g.125590881A>G	ENSP00000425658:p.Leu1184Pro					ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P	p.L1184P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4588	-			1184			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3551T>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379253	0.61735	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.70282	-0.47;-0.44	5.29	5.29	0.74685	.	0.073924	0.53938	D	0.000042	T	0.64483	0.2602	N	0.14661	0.345	0.80722	D	1	D	0.55385	0.971	P	0.52159	0.691	T	0.65545	-0.6142	10	0.33141	T	0.24	.	15.3955	0.74790	1.0:0.0:0.0:0.0	.	1184	Q9ULJ7	ANR50_HUMAN	P	1184;1005	ENSP00000425658:L1184P;ENSP00000425355:L1005P	ENSP00000425658:L1184P	L	-	2	0	ANKRD50	125810331	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.571000	0.90752	2.225000	0.72522	0.459000	0.35465	CTG		0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	159	0	0	0	1	0	4	159					G	125590881	A	G	125590881	3	3	452	1	0	0	0	0	1	0	0	0	677	188	7	3	742	3	ANKRD50	4	125590881	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08	2987975	125590881	65563395	10	37879											
PRLR	5618	broad.mit.edu	37	chr5	35065444	35065444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccttattgttctcaggaGtcccgggcttcttgggcttg	11	11	2	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr5:35065444G>A	ENST00000382002.5	-	10	2042	c.1616C>T	c.(1615-1617)aCt>aTt	p.T539I	PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000342362.5_Missense_Mutation_p.T438I|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	539					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTTCTCAGGAGTCCCGGGCTT	0.483																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1615-1617)aCt>aTt		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						88	85	86					5																	35065444		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065444G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1616C>T	5.37:g.35065444G>A	ENSP00000371432:p.Thr539Ile					PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.T438I	p.T539I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2042	-	all_lung(31;3.83e-05)		539					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1616C>T	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.881367	0.00532	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87256	-2.23;-1.3;-2.23	5.77	0.872	0.19113	.	1.407060	0.03957	N	0.289441	T	0.74114	0.3674	.	.	.	0.09310	N	1	B;B	0.25105	0.072;0.118	B;B	0.23275	0.02;0.045	T	0.58989	-0.7538	9	0.18710	T	0.47	0.1754	1.6488	0.02767	0.344:0.1318:0.3899:0.1344	.	539;438	P16471;P16471-2	PRLR_HUMAN;.	I	438;539;438	ENSP00000339213:T438I;ENSP00000371432:T539I;ENSP00000422556:T438I	ENSP00000339213:T438I	T	-	2	0	PRLR	35101201	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	0.223000	0.17719	0.068000	0.16574	-0.825000	0.03093	ACT		0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			5	129	0	0	0	1	0	5	129					A	35065444	G	A	35065444	3	1	452	1	0	0	0	0	1	0	0	0	12531	1029	36	2	256	2	PRLR	5	35065444	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		35065444	145849816	11	37880											
DDX56	54606	broad.mit.edu	37	chr7	44613434	44613434	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagccctcgcgtgtaCctgaaggagccggggatcga	13	15	0	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:44613434C>T	ENST00000258772.5	-	1	167		c.e1+1		DDX56_ENST00000485367.1_5'Flank|DDX56_ENST00000431640.1_Splice_Site	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56						ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCGCGTGTACCTGAAGGAGC	0.657																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.e1+1		DEAD (Asp-Glu-Ala-Asp) box helicase 56							35	37	36					7																	44613434		2203	4300	6503	SO:0001630	splice_region_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44613434C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.60+1G>A	7.37:g.44613434C>T						DDX56_ENST00000431640.1_Splice_Site		NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			1	167	-								A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Splice_Site	SNP	ENST00000258772.5	37		CCDS5492.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209178	0.39003	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	.	.	.	5.22	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9321	0.47224	0.0:0.8103:0.1897:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX56	44579959	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.245000	0.43133	2.441000	0.82636	0.655000	0.94253	.		0.657	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082	Intron	4	47	0	0	0	1	0	4	47					T	44613434	C	T	44613434	5	4	452	1	0	0	0	0	0	0	1	0	4374	521	18	2	1638	2	DDX56	7	44613434	Splice_Site	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		44613434	114525229	12	37881											
KCND2	3751	broad.mit.edu	37	chr7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcctcggggcctatgCcggctcccccgaggcaggag	16	15	0	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGGCCTATGCCGGCTCCCCC	0.632																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(82-84)Ccg>Tcg		potassium voltage-gated channel, Shal-related subfamily, member 2							95	112	106					7																	119914768		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914768C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.82C>T	7.37:g.119914768C>T	ENSP00000333496:p.Pro28Ser						p.P28S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1047	+	all_neural(327;0.117)		28					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.82C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617767	0.87359	.	.	ENSG00000184408	ENST00000331113	D	0.97352	-4.35	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.83953	2.67	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	D	0.98356	1.0546	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	28	Q9NZV8	KCND2_HUMAN	S	28	ENSP00000333496:P28S	.	P	+	1	0	KCND2	119702004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCG		0.632	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		6	396	0	0	0	1	0	6	396					T	119914768	C	T	119914768	3	4	452	1	0	0	0	0	1	0	0	0	8019	739	26	2	84	2	KCND2	7	119914768	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	75301334	119914768	39223895	13	37882											
ZNF786	136051	broad.mit.edu	37	chr7	148767777	148767777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcccctgtgtgcaggCcctgatggctgagcagctgc	13	15	1	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:148767777C>T	ENST00000491431.1	-	4	2151	c.2087G>A	c.(2086-2088)gGc>gAc	p.G696D	ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D|ZNF786_ENST00000316286.9_Missense_Mutation_p.G610D	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	696					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)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTGTGCAGGCCCTGATGGCT	0.587																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1828-1830)gGc>gAc		zinc finger protein 786							93	102	99					7																	148767777		2114	4245	6359	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767777C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"Zinc fingers, C2H2-type", "-"	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2087G>A	7.37:g.148767777C>T	ENSP00000417470:p.Gly696Asp					ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D|ZNF786_ENST00000491431.1_Missense_Mutation_p.G696D	p.G610D			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2101	-	Melanoma(164;0.15)		696					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.1829G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718208	0.15372	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.18016	2.24;2.24;2.24	4.56	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35805	N	0.002976	T	0.17619	0.0423	N	0.16567	0.415	0.09310	N	0.999994	D	0.60575	0.988	P	0.53988	0.739	T	0.03784	-1.1004	10	0.87932	D	0	-23.6084	11.572	0.50839	0.1892:0.8108:0.0:0.0	.	696	Q8N393	ZN786_HUMAN	D	610;696;659	ENSP00000313516:G610D;ENSP00000417470:G696D;ENSP00000404984:G659D	ENSP00000313516:G610D	G	-	2	0	ZNF786	148398710	0.000000	0.05858	0.782000	0.31804	0.009000	0.06853	0.199000	0.17237	2.378000	0.81104	0.655000	0.94253	GGC		0.587	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		17	278	0	0	0	1	0	17	278					T	148767777	C	T	148767777	3	4	452	1	0	0	0	0	1	0	0	0	18155	739	26	2	265	2	ZNF786	7	148767777	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	28853009	148767777	10370886	14	37883											
TNKS	8658	broad.mit.edu	37	chr8	9563758	9563758	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtcacagaactgctaCtaaaggtaagagaaattcag	9	6	2	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:9563758C>G	ENST00000310430.6	+	7	1290	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.L422V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	422					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)		AGAACTGCTACTAAAGGTAAG	0.313																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1264-1266)Cta>Gta		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							75	74	74					8																	9563758		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9563758C>G	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.1264C>G	8.37:g.9563758C>G	ENSP00000311579:p.Leu422Val					TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.L422V	p.L422V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	7	1290	+			422					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1264C>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	7.926	0.739707	0.15642	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.27557	2.39;2.39;1.66	5.86	-0.261	0.12963	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.25201	0.72	0.35108	D	0.765893	B;B	0.27910	0.193;0.02	B;B	0.32022	0.139;0.122	T	0.15694	-1.0428	10	0.33940	T	0.23	.	14.1453	0.65347	0.0:0.6078:0.0:0.3922	.	422;422	E7EWY6;O95271	.;TNKS1_HUMAN	V	422;422;185	ENSP00000428299:L422V;ENSP00000311579:L422V;ENSP00000429890:L185V	ENSP00000311579:L422V	L	+	1	2	TNKS	9601168	0.937000	0.31787	0.042000	0.18584	0.630000	0.37929	0.648000	0.24828	-0.234000	0.09782	-0.813000	0.03139	CTA		0.313	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		5	120	0	0	0	1	0	5	120					G	9563758	C	G	9563758	3	3	452	1	0	0	0	0	1	0	0	0	16316	564	20	4	1290	4	TNKS	8	9563758	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		9563758	136800264	15	37884											
NEFM	4741	broad.mit.edu	37	chr8	24772171	24772171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagaatatgcaccaggccGaagagtggttcaaatgccgc	11	11	1	2	rs370131251		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:24772171G>A	ENST00000221166.5	+	1	1647	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	NEFM_ENST00000433454.2_5'Flank|RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|NEFM_ENST00000437366.2_Missense_Mutation_p.E289K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	289	Linker 2.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCACCAGGCCGAAGAGTGGTT	0.602																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(865-867)Gaa>Aaa		neurofilament, medium polypeptide		G	LYS/GLU	0,4406		0,0,2203	109	91	97		865	4.7	1	8		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	NEFM	NM_005382.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	289/917	24772171	1,13005	2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772171G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.865G>A	8.37:g.24772171G>A	ENSP00000221166:p.Glu289Lys					GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E289K	p.E289K			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1647	+		Prostate(55;0.157)	289			Linker 2.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.865G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376366	0.95945	0.0	1.16E-4	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.93763	-3.28;-3.28;-3.28	4.69	4.69	0.59074	Filament (1);	0.000000	0.44902	D	0.000411	D	0.96738	0.8935	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.981;0.999	D	0.97473	1.0042	10	0.87932	D	0	.	17.9719	0.89116	0.0:0.0:1.0:0.0	.	289;289	E7EMV2;P07197	.;NFM_HUMAN	K	289	ENSP00000221166:E289K;ENSP00000427872:E289K;ENSP00000410137:E289K	ENSP00000221166:E289K	E	+	1	0	NEFM	24828076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.312000	0.78011	0.467000	0.42956	GAA		0.602	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		4	48	0	0	0	1	0	4	48					A	24772171	G	A	24772171	3	1	452	1	0	0	0	0	1	0	0	0	10316	1059	37	1	867	1	NEFM	8	24772171	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	15208413	24772171	121591851	16	37885											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		4	122	0	0	0	1	0	4	122					T	70871889	C	T	70871889	2	4	452	1	0	0	0	0	0	0	0	1	2714	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		70871889	70341542	17	37886											
GALNT12	79695	broad.mit.edu	37	chr9	101608400	101608400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatcagaagttcatcttgCaggaggtaggtgaactctct	11	7	4	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:101608400C>T	ENST00000375011.3	+	9	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTTCATCTTGCAGGAGGTAGG	0.527																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1600-1602)Cag>Tag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							133	121	125					9																	101608400		2203	4300	6503	SO:0001587	stop_gained	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608400C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1600C>T	9.37:g.101608400C>T	ENSP00000364150:p.Gln534*						p.Q534*	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			9	1600	+		Acute lymphoblastic leukemia(62;0.0559)	534			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Nonsense_Mutation	SNP	ENST00000375011.3	37	c.1600C>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983186	0.74474	.	.	ENSG00000119514	ENST00000375011	.	.	.	5.45	3.4	0.38934	.	0.439432	0.26248	N	0.025480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.8143	0.63281	0.2874:0.7126:0.0:0.0	.	.	.	.	X	534	.	ENSP00000364150:Q534X	Q	+	1	0	GALNT12	100648221	0.991000	0.36638	0.931000	0.37212	0.313000	0.28021	0.918000	0.28678	1.287000	0.44583	-0.169000	0.13324	CAG		0.527	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		10	69	0	0	0	1	0	10	69					T	101608400	C	T	101608400	4	4	452	1	0	0	0	0	0	1	0	0	6210	711	25	2	1634	2	GALNT12	9	101608400	Nonsense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	30736511	101608400	39605031	18	37887											
HPS6	79803	broad.mit.edu	37	chr10	103825421	103825421	+	Frame_Shift_Del	DEL	G	G	-													tagtcgcgtcgcgagggcccGgcgcggagctagagcgggcc							TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr10:103825421delG	ENST00000299238.5	+	1	275	c.190delG	c.(190-192)ggcfs	p.G64fs		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	64					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)		GCGAGGGCCCGGCGCGGAGCT	0.761									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(190-192)gcfs		Hermansky-Pudlak syndrome 6							3	4	3					10																	103825421		1210	2618	3828	SO:0001589	frameshift_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825421delG	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.190delG	10.37:g.103825421delG	ENSP00000299238:p.Gly64fs						p.G64fs	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	275	+		Colorectal(252;0.122)	64					Q5VV69|Q9H685	Frame_Shift_Del	DEL	ENST00000299238.5	37	c.190delG	CCDS7527.1																																																																																				0.761	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		2	4						2	4	---	---	---	---	-	103825421	G	-	103825421	7	5	452	1	0	1	0	1	0	0	0	0	7343	1116	39	0	192	0	HPS6	10	103825421	Frame_Shift_Del	DEL	G	TCGA-S9-A7R1-01A-12D-A34J-08		103825421	31709326	19	37888											
OR51E2	81285	broad.mit.edu	37	chr11	4703857	4703857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatacatggaaaggagggGgaagccaacccagaaatggg	14	7	0	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:4703857G>A	ENST00000396950.3	-	2	324	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	29					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAGGGGGAAGCCAACC	0.498																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(85-87)Ccc>Tcc		olfactory receptor, family 51, subfamily E, member 2							79	77	77					11																	4703857		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703857G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.85C>T	11.37:g.4703857G>A	ENSP00000380153:p.Pro29Ser						p.P29S	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	324	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	29					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.85C>T	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050045	0.55218	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00378	7.67;7.67	5.0	5.0	0.66597	.	0.000000	0.46145	D	0.000311	T	0.01156	0.0038	M	0.90252	3.1	0.36723	D	0.881294	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	10	0.87932	D	0	.	10.5945	0.45329	0.088:0.0:0.912:0.0	.	29	Q9H255	O51E2_HUMAN	S	29	ENSP00000380153:P29S;ENSP00000432644:P29S	ENSP00000380153:P29S	P	-	1	0	OR51E2	4660433	1.000000	0.71417	0.982000	0.44146	0.651000	0.38670	3.667000	0.54547	2.613000	0.88420	0.655000	0.94253	CCC		0.498	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		22	45	0	0	0	1	0	22	45					A	4703857	G	A	4703857	3	1	452	1	0	0	0	0	1	0	0	0	11095	1232	43	2	881	2	OR51E2	11	4703857	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		4703857	130302659	20	37889											
FOLR1	2348	broad.mit.edu	37	chr11	71906326	71906326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatccagtgtcgaccctgGaggaagaatgcctgctgttc	11	13	0	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:71906326G>A	ENST00000393679.1	+	3	616	c.180G>A	c.(178-180)tgG>tgA	p.W60*	FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	60					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GTCGACCCTGGAGGAAGAATG	0.527																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(178-180)tgG>tgA		folate receptor 1 (adult)							91	83	86					11																	71906326		2200	4293	6493	SO:0001587	stop_gained	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906326G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.180G>A	11.37:g.71906326G>A	ENSP00000377284:p.Trp60*					FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA	p.W60*			P15328	FOLR1_HUMAN			3	616	+			60					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Nonsense_Mutation	SNP	ENST00000393679.1	37	c.180G>A	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	37	6.142738	0.97320	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.5153	16.6542	0.85224	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000308137:W60X	W	+	3	0	FOLR1	71583974	1.000000	0.71417	0.998000	0.56505	0.321000	0.28281	9.380000	0.97202	2.566000	0.86566	0.563000	0.77884	TGG		0.527	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		63	68	0	0	0	1	0	63	68					A	71906326	G	A	71906326	4	1	452	1	0	0	0	0	0	1	0	0	5981	1183	41	2	186	2	FOLR1	11	71906326	Nonsense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	67202469	71906326	63100190	21	37890											
MTUS2	23281	broad.mit.edu	37	chr13	29855958	29855958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtgacagcaccccGcaggagtttacttccagcgc	10	15	0	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr13:29855958G>A	ENST00000431530.3	+	4	2850	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	921	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					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						ACAGCACCCCGCAGGAGTTTA	0.572																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2791-2793)cGc>cAc		microtubule associated tumor suppressor candidate 2							52	52	52					13																	29855958		1858	4100	5958	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855958G>A	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.2792G>A	13.37:g.29855958G>A	ENSP00000392057:p.Arg931His						p.R931H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			4	2850	+			921			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2792G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982609	0.74474	.	.	ENSG00000132938	ENST00000431530	T	0.20738	2.05	4.87	4.01	0.46588	.	0.186918	0.36893	N	0.002355	T	0.41282	0.1152	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.20840	-1.0263	9	.	.	.	.	14.6054	0.68475	0.0:0.1468:0.8532:0.0	.	921	Q5JR59	MTUS2_HUMAN	H	931	ENSP00000392057:R931H	.	R	+	2	0	MTUS2	28753958	1.000000	0.71417	0.983000	0.44433	0.747000	0.42532	5.770000	0.68873	1.389000	0.46526	0.655000	0.94253	CGC		0.572	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	92	0	0	0	1	0	6	92					A	29855958	G	A	29855958	3	1	452	1	0	0	0	0	1	0	0	0	9966	1087	38	1	2806	1	MTUS2	13	29855958	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		29855958	85313920	22	37891											
SEL1L	6400	broad.mit.edu	37	chr14	81945999	81945999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatagacgacgcccaatTtgcagagggctaggaagact	12	8	0	4			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr14:81945999T>C	ENST00000336735.4	-	20	2248	c.2132A>G	c.(2131-2133)aAa>aGa	p.K711R		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	711	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GACGCCCAATTTGCAGAGGGC	0.433																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(2131-2133)aAa>aGa		sel-1 suppressor of lin-12-like (C. elegans)							95	94	94					14																	81945999		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81945999T>C		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2132A>G	14.37:g.81945999T>C	ENSP00000337053:p.Lys711Arg						p.K711R	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	20	2248	-			711			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.2132A>G	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.809555	0.90707	.	.	ENSG00000071537	ENST00000336735	T	0.35973	1.28	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.83774	2.66	0.80722	D	1	P	0.52316	0.952	P	0.54100	0.742	T	0.61202	-0.7110	10	0.48119	T	0.1	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	711	Q9UBV2	SE1L1_HUMAN	R	711	ENSP00000337053:K711R	ENSP00000337053:K711R	K	-	2	0	SEL1L	81015752	1.000000	0.71417	0.987000	0.45799	0.883000	0.51084	7.638000	0.83328	2.317000	0.78254	0.460000	0.39030	AAA		0.433	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		39	54	0	0	0	1	0	39	54					C	81945999	T	C	81945999	3	2	452	1	0	0	0	0	1	0	0	0	14010	1841	64	3	260	3	SEL1L	14	81945999	Missense_Mutation	SNP	T	TCGA-S9-A7R1-01A-12D-A34J-08		81945999	25403541	23	37892											
KIAA0284	283638	broad.mit.edu	37	chr14	105350539	105350539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaagacagaggaaCggctgggcagcccctcgccc	16	13	0	3	rs373443985		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr14:105350539C>T	ENST00000414716.3	+	9	1651	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	CEP170B_ENST00000453495.1_Missense_Mutation_p.R476W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R405W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R405W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	475						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GACAGAGGAACGGCTGGGCAG	0.736																																						ENST00000453495.1																			0											c.(1426-1428)Cgg>Tgg		centrosomal protein 170B		C	TRP/ARG,TRP/ARG	2,3338		0,2,1668	4	7	6		1423,1213	4.1	1	14		6	1,7387		0,1,3693	no	missense,missense	KIAA0284	NM_001112726.2,NM_015005.2	101,101	0,3,5361	TT,TC,CC		0.0135,0.0599,0.028	probably-damaging,probably-damaging	475/1555,405/1520	105350539	3,10725	1670	3694	5364	SO:0001583	missense	283638							g.chr14:105350539C>T	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.1423C>T	14.37:g.105350539C>T	ENSP00000404151:p.Arg475Trp					CEP170B_ENST00000414716.3_Missense_Mutation_p.R475W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R405W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R405W	p.R476W							9	1654	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.1426C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695399	0.68386	5.99E-4	1.35E-4	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.51574	0.71;0.7;0.71;0.71	4.09	4.09	0.47781	.	0.577739	0.16725	N	0.202119	T	0.61751	0.2372	L	0.49350	1.555	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.989	T	0.62845	-0.6768	10	0.62326	D	0.03	-12.0906	12.3112	0.54929	0.1701:0.8299:0.0:0.0	.	475;475;405	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	405;475;476;405	ENSP00000451249:R405W;ENSP00000404151:R475W;ENSP00000407238:R476W;ENSP00000415006:R405W	ENSP00000404151:R475W	R	+	1	2	KIAA0284	104421584	0.739000	0.28196	0.982000	0.44146	0.376000	0.30014	1.841000	0.39240	1.813000	0.52934	0.313000	0.20887	CGG		0.736	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	4	0	0	0	1	0	3	4					T	105350539	C	T	105350539	3	4	452	1	0	0	0	0	1	0	0	0	8166	527	19	1	1453	1	KIAA0284	14	105350539	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	23404540	105350539	1999001	24	37893											
BLM	641	broad.mit.edu	37	chr15	91310185	91310185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataagactgactcagaagctAcaaatatttacctccagtta	5	9	1	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr15:91310185A>G	ENST00000355112.3	+	10	2357	c.2239A>G	c.(2239-2241)Aca>Gca	p.T747A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	747	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|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)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	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)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTCAGAAGCTACAAATATTTA	0.269			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2239-2241)Aca>Gca	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							54	59	57					15																	91310185		2197	4279	6476	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91310185A>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2239A>G	15.37:g.91310185A>G	ENSP00000347232:p.Thr747Ala					BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A	p.T747A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		10	2357	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		747			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2239A>G	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	3.010	-0.204090	0.06180	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.14640	2.49	5.74	2.12	0.27331	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.227468	0.43260	N	0.000582	T	0.04952	0.0133	N	0.11892	0.195	0.28425	N	0.917529	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.14578	0.011;0.004;0.002	T	0.41502	-0.9505	10	0.02654	T	1	-1.0676	4.226	0.10580	0.2579:0.2269:0.5152:0.0	.	747;372;747	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	A	747;400	ENSP00000347232:T747A	ENSP00000347232:T747A	T	+	1	0	BLM	89111189	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.781000	0.38644	0.466000	0.27193	-0.449000	0.05564	ACA		0.269	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			16	90	0	0	0	1	0	16	90					G	91310185	A	G	91310185	3	3	452	1	0	0	0	0	1	0	0	0	1445	391	14	3	2273	3	BLM	15	91310185	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08		91310185	11221207	25	37894											
ZNF597	146434	broad.mit.edu	37	chr16	3486744	3486744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcgttcagagtcctcgtCgtggctcttctcggaaaggg	14	11	3	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:3486744C>T	ENST00000301744.4	-	4	1190	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	319					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						GAGTCCTCGTCGTGGCTCTTC	0.502																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(955-957)Gac>Aac		zinc finger protein 597							71	66	68					16																	3486744		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3486744C>T	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.955G>A	16.37:g.3486744C>T	ENSP00000301744:p.Asp319Asn					LA16c-306E5.2_ENST00000575785.1_RNA	p.D319N	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			4	1190	-			319						Missense_Mutation	SNP	ENST00000301744.4	37	c.955G>A	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	8.754	0.921980	0.17982	.	.	ENSG00000167981	ENST00000301744	T	0.07021	3.23	4.2	-4.45	0.03546	.	1.373330	0.05123	N	0.491168	T	0.03564	0.0102	N	0.03983	-0.305	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.44892	-0.9298	10	0.72032	D	0.01	0.1757	5.1527	0.15019	0.0:0.4086:0.2764:0.315	.	319	Q96LX8	ZN597_HUMAN	N	319	ENSP00000301744:D319N	ENSP00000301744:D319N	D	-	1	0	ZNF597	3426745	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.129000	0.10515	-0.979000	0.03529	-0.355000	0.07637	GAC		0.502	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		8	96	0	0	0	1	0	8	96					T	3486744	C	T	3486744	3	4	452	1	0	0	0	0	1	0	0	0	18024	884	31	1	323	1	ZNF597	16	3486744	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		3486744	86868009	26	37895											
PKD1L2	114780	broad.mit.edu	37	chr16	81222525	81222525	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taactccttgtcattgtctgGccagcccagggtcactgtcg	10	13	3	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:81222525G>A	ENST00000525539.1	-	0	1749				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCATTGTCTGGCCAGCCCAGG	0.428																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1750-1752)Cca>Tca		polycystic kidney disease 1-like 2							155	158	157					16																	81222525		2015	4178	6193			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81222525G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81222525G>A						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.P584S			Q7Z442	PK1L2_HUMAN			10	1749	-			584			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1750C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.565485|2.565485	0.45694|0.45694	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000337114	.|T	.|0.70869	.|-0.52	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.455087	.|0.22540	.|N	.|0.058739	D|D	0.84737|0.84737	0.5538|0.5538	.|.	.|.	.|.	0.32620|0.32620	N|N	0.523459|0.523459	.|D;P	.|0.89917	.|1.0;0.889	.|D;P	.|0.79784	.|0.993;0.526	D|D	0.88609|0.88609	0.3155|0.3155	4|9	.|0.87932	.|D	.|0	-11.5492|-11.5492	18.3229|18.3229	0.90244|0.90244	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|584;584	.|Q7Z442-3;Q7Z442	.|.;PK1L2_HUMAN	V|S	111|584	.|ENSP00000337397:P584S	.|ENSP00000337397:P584S	A|P	-|-	2|1	0|0	PKD1L2|PKD1L2	79780026|79780026	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.203000|0.203000	0.24098|0.24098	4.341000|4.341000	0.59335|0.59335	2.337000|2.337000	0.79520|0.79520	0.442000|0.442000	0.29010|0.29010	GCC|CCA		0.428	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	176	0	0	0	1	0	5	176					A	81222525	G	A	81222525	1	1	452	0	1	0	0	0	0	0	0	0	11965	1203	42	2		2	PKD1L2	16	81222525	RNA	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	77735781	81222525	9132228	27	37896											
UTP6	55813	broad.mit.edu	37	chr17	30207649	30207649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcacctctcctccttccGgccgacctccactgctttgg	7	19	1	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr17:30207649G>A	ENST00000261708.4	-	11	1047	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	304					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCCTCCTTCCGGCCGACCTCC	0.488																																						ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(910-912)Cgg>Tgg		UTP6, small subunit (SSU) processome component, homolog (yeast)							201	177	185					17																	30207649		2203	4300	6503	SO:0001583	missense	55813				rRNA processing	nucleolus	binding	g.chr17:30207649G>A	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"hepatocellular carcinoma associated antigen 66"		"chromosome 17 open reading frame 40"	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.910C>T	17.37:g.30207649G>A	ENSP00000261708:p.Arg304Trp					CTC-542B22.2_ENST00000583236.1_lincRNA	p.R304W	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			11	1047	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	304					Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	c.910C>T	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948390	0.53186	.	.	ENSG00000108651	ENST00000261708	T	0.34859	1.34	5.16	4.2	0.49525	.	0.161469	0.56097	D	0.000040	T	0.46889	0.1416	M	0.61703	1.905	0.53005	D	0.999964	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.56216	0.794;0.719;0.724	T	0.47586	-0.9106	10	0.66056	D	0.02	-6.1914	8.616	0.33831	0.0779:0.0:0.7714:0.1507	.	304;304;304	B4DSL9;B3KQ21;Q9NYH9	.;.;UTP6_HUMAN	W	304	ENSP00000261708:R304W	ENSP00000261708:R304W	R	-	1	2	UTP6	27231762	1.000000	0.71417	0.425000	0.26659	0.286000	0.27126	6.193000	0.72075	1.314000	0.45095	0.563000	0.77884	CGG		0.488	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		52	82	0	0	0	1	0	52	82					A	30207649	G	A	30207649	3	1	452	1	0	0	0	0	1	0	0	0	17099	1115	39	1	919	1	UTP6	17	30207649	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		30207649	50987561	28	37897											
SLC2A11	66035	broad.mit.edu	37	chr22	24217412	24217412	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatgctgggaagactgctCgtgggagtcaatgcaggtat	14	7	2	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr22:24217412C>T	ENST00000345044.6	+	4	658	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.L95L|SLC2A11_ENST00000316185.8_Silent_p.L133L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	130					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						GAAGACTGCTCGTGGGAGTCA	0.448																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(388-390)ctC>ctT		solute carrier family 2 (facilitated glucose transporter), member 11							62	56	58					22																	24217412		2203	4300	6503	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24217412C>T	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.390C>T	22.37:g.24217412C>T						SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.L95L	p.L130L			Q9BYW1	GTR11_HUMAN			4	658	+			130					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.390C>T	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777214	0.00640	.	.	ENSG00000251357	ENST00000421180	.	.	.	3.33	-0.272	0.12919	.	.	.	.	.	T	0.43853	0.1266	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	.	3.9612	0.09412	0.1549:0.584:0.1523:0.1088	.	.	.	.	L	106	.	.	S	+	2	0	AP000350.10	22547412	0.000000	0.05858	0.287000	0.24848	0.015000	0.08874	-2.389000	0.01058	-0.066000	0.12998	-2.864000	0.00100	TCG		0.448	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	74	0	0	0	1	0	4	74					T	24217412	C	T	24217412	2	4	452	1	0	0	0	0	0	0	0	1	14540	871	31	1		1	SLC2A11	22	24217412	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		24217412	27087154	29	37898											
PTCHD1	139411	broad.mit.edu	37	chrX	23398114	23398114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaaatgtacccttacaCgtcctcctcactgagggaag	8	12	2	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:23398114C>T	ENST00000379361.4	+	2	1618	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	253					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						TACCCTTACACGTCCTCCTCA	0.507																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(757-759)aCg>aTg		patched domain containing 1							213	192	199					X																	23398114		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398114C>T	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.758C>T	X.37:g.23398114C>T	ENSP00000368666:p.Thr253Met						p.T253M	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1618	+			253					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.758C>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422876	0.83559	.	.	ENSG00000165186	ENST00000379361	D	0.86097	-2.07	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	L	0.57536	1.79	0.52501	D	0.999954	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.83	D	0.91989	0.5601	10	0.87932	D	0	.	17.4049	0.87470	0.0:1.0:0.0:0.0	.	148;253	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	M	253	ENSP00000368666:T253M	ENSP00000368666:T253M	T	+	2	0	PTCHD1	23308035	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.278000	0.78587	2.381000	0.81170	0.600000	0.82982	ACG		0.507	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		8	143	0	0	0	1	0	8	143					T	23398114	C	T	23398114	3	4	452	1	0	0	0	0	1	0	0	0	12732	536	19	1	764	1	PTCHD1	23	23398114	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		23398114	131872446	30	37899											
SSX5	6758	broad.mit.edu	37	chrX	48053653	48053653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaggtgggagggtggcCttgaaacctagaaagaagca	15	5	0	4			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:48053653C>T	ENST00000376923.1	-	3	191	c.192G>A	c.(190-192)aaG>aaA	p.K64K	SSX5_ENST00000311798.1_Silent_p.K105K|SSX5_ENST00000347757.1_Silent_p.K64K			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	64	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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						GGAGGGTGGCCTTGAAACCTA	0.473																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(313-315)aaG>aaA		synovial sarcoma, X breakpoint 5							122	109	113					X																	48053653		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053653C>T	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.192G>A	X.37:g.48053653C>T						SSX5_ENST00000376923.1_Silent_p.K64K|SSX5_ENST00000347757.1_Silent_p.K64K	p.K105K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	367	-			64					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.315G>A	CCDS14289.1																																																																																				0.473	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		9	93	0	0	0	1	0	9	93					T	48053653	C	T	48053653	2	4	452	1	0	0	0	0	0	0	0	1	15207	680	24	2		2	SSX5	23	48053653	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	24655539	48053653	107216907	31	37900											
LRRC7	57554	broad.mit.edu	37	chr1	70488940	70488940	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagatatgcccgtcccccaGaatgacccacagctggcatg	9	15	0	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:70488940G>T	ENST00000035383.5	+	15	1593	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.Q526H|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	521						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGTCCCCCAGAATGACCCAC	0.562																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1576-1578)caG>caT		leucine rich repeat containing 7							95	88	90					1																	70488940		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488940G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1563G>T	1.37:g.70488940G>T	ENSP00000035383:p.Gln521His					RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q521H|LRRC7_ENST00000415775.2_Intron	p.Q526H			Q96NW7	LRRC7_HUMAN			18	1996	+			521					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1578G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314070	0.40996	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37752	1.18;1.25	5.86	5.86	0.93980	.	0.301525	0.29355	N	0.012400	T	0.10078	0.0247	N	0.08118	0	0.80722	D	1	P	0.36438	0.553	B	0.28784	0.094	T	0.07731	-1.0757	10	0.37606	T	0.19	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	521	Q96NW7	LRRC7_HUMAN	H	526;521;344	ENSP00000309245:Q526H;ENSP00000035383:Q521H	ENSP00000035383:Q521H	Q	+	3	2	LRRC7	70261528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	CAG		0.562	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		19	60	1	0	1.01871e-10	1	1.063e-10	19	60					T	70488940	G	T	70488940	3	4	453	1	0	0	0	0	1	0	0	0	9020	933	33	4	1621	4	LRRC7	1	70488940	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		70488940	178761681	1	37901											
FLG	2312	broad.mit.edu	37	chr1	152281967	152281967	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgctgagtgcctggagctgtCtcgtgcctgctcgtggcggg	17	12	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:152281967C>A	ENST00000368799.1	-	3	5430	c.5395G>T	c.(5395-5397)Gac>Tac	p.D1799Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1799	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)			CTGGAGCTGTCTCGTGCCTGC	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(5395-5397)Gac>Tac		filaggrin							287	296	293					1																	152281967		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281967C>A	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.5395G>T	1.37:g.152281967C>A	ENSP00000357789:p.Asp1799Tyr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.D1799Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5430	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1799			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5395G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281469	0.23392	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.04706	3.57	4.09	0.744	0.18353	.	.	.	.	.	T	0.07503	0.0189	M	0.82923	2.615	0.09310	N	1	D	0.69078	0.997	D	0.65573	0.936	T	0.17107	-1.0380	9	0.87932	D	0	-11.4358	2.2818	0.04116	0.184:0.4877:0.2147:0.1136	.	1799	P20930	FILA_HUMAN	Y	1799;34	ENSP00000357789:D1799Y	ENSP00000271820:D34Y	D	-	1	0	FLG	150548591	0.052000	0.20516	0.012000	0.15200	0.008000	0.06430	1.678000	0.37586	0.442000	0.26555	0.461000	0.40582	GAC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	412	1	0	5.47352e-35	1	5.97112e-35	56	412					A	152281967	C	A	152281967	3	1	453	1	0	0	0	0	1	0	0	0	5922	913	32	4	6794	4	FLG	1	152281967	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	81793027	152281967	96968654	2	37902											
PTPN14	5784	broad.mit.edu	37	chr1	214556732	214556732	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctccttcacaggctcTtttttgacccgctccttcac	6	16	4	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:214556732T>A	ENST00000366956.5	-	13	2660	c.2466A>T	c.(2464-2466)aaA>aaT	p.K822N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	822					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACAGGCTCTTTTTTGACCC	0.552																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2464-2466)aaA>aaT		protein tyrosine phosphatase, non-receptor type 14							76	80	78					1																	214556732		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556732T>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2466A>T	1.37:g.214556732T>A	ENSP00000355923:p.Lys822Asn					PTPN14_ENST00000543945.1_3'UTR	p.K822N	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2660	-			822					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2466A>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	9.195	1.026906	0.19512	.	.	ENSG00000152104	ENST00000366956	T	0.71934	-0.61	5.1	-7.09	0.01553	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.79797	-0.1652	10	0.52906	T	0.07	.	13.9123	0.63876	0.0:0.4864:0.0:0.5136	.	822	Q15678	PTN14_HUMAN	N	822	ENSP00000355923:K822N	ENSP00000355923:K822N	K	-	3	2	PTPN14	212623355	0.365000	0.25006	0.078000	0.20375	0.103000	0.19146	-0.346000	0.07760	-1.801000	0.01245	-0.376000	0.06991	AAA		0.552	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		11	74	0	0	0	1	0	11	74					A	214556732	T	A	214556732	3	1	453	1	0	0	0	0	1	0	0	0	12783	1606	56	5	1125	5	PTPN14	1	214556732	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	62274765	214556732	34693889	3	37903											
LTBP1	4052	broad.mit.edu	37	chr2	33412100	33412100	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggggacgcatgtcatccattCaacacataccttgcctctga	8	13	3	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:33412100C>G	ENST00000404816.2	+	6	1732	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	460					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCATCCATTCAACACATACC	0.512																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(1378-1380)tCa>tGa		latent transforming growth factor beta binding protein 1							104	88	93					2																	33412100		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33412100C>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1379C>G	2.37:g.33412100C>G	ENSP00000386043:p.Ser460*					LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134*	p.S460*			Q14766	LTBP1_HUMAN			6	1732	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	460					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.1379C>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047482	0.93740	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1993	0.93704	0.0:1.0:0.0:0.0	.	.	.	.	X	460;460;149;134;134;134;134;134	.	ENSP00000346467:S460X	S	+	2	0	LTBP1	33265604	1.000000	0.71417	0.950000	0.38849	0.647000	0.38526	7.191000	0.77763	2.526000	0.85167	0.655000	0.94253	TCA		0.512	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		10	46	0	0	0	1	0	10	46					G	33412100	C	G	33412100	4	3	453	1	0	0	0	0	0	1	0	0	9073	838	29	4	1456	4	LTBP1	2	33412100	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		33412100	209787273	4	37904											
IL18RAP	8807	broad.mit.edu	37	chr2	103061723	103061723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcactcagcgtgatcttcGcaggaagtttgtttgctttg	11	8	3	1	rs375315557		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:103061723G>A	ENST00000264260.2	+	9	1584	c.995G>A	c.(994-996)cGc>cAc	p.R332H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CGTGATCTTCGCAGGAAGTTT	0.423																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(994-996)cGc>cAc		interleukin 18 receptor accessory protein		G	HIS/ARG	0,4406		0,0,2203	113	105	107		995	-4.1	0	2		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL18RAP	NM_003853.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	332/600	103061723	1,13005	2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103061723G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.995G>A	2.37:g.103061723G>A	ENSP00000264260:p.Arg332His					IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H	p.R332H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			9	1584	+			332			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.995G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536537	0.13188	0.0	1.16E-4	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.13657	2.57;2.57	5.63	-4.12	0.03916	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.326070	0.04542	N	0.388360	T	0.08670	0.0215	N	0.25647	0.755	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.39057	-0.9632	10	0.13108	T	0.6	.	8.7879	0.34832	0.5636:0.0:0.3371:0.0992	.	332	O95256	I18RA_HUMAN	H	332;190	ENSP00000264260:R332H;ENSP00000387201:R190H	ENSP00000264260:R332H	R	+	2	0	IL18RAP	102428155	0.000000	0.05858	0.000000	0.03702	0.585000	0.36419	-0.945000	0.03909	-0.460000	0.07003	-0.126000	0.14955	CGC		0.423	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		4	78	0	0	0	1	0	4	78					A	103061723	G	A	103061723	3	1	453	1	0	0	0	0	1	0	0	0	7648	1087	38	1	1021	1	IL18RAP	2	103061723	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	69649623	103061723	140137650	5	37905											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37032873	37032873	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcaaagtgtgttggtttcGagtcaaatatgaaaaagcct	9	6	2	1	rs370683042		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:37032873G>A	ENST00000322716.5	-	1	1922	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	566					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGTTGGTTTCGAGTCAAATAT	0.453																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(1696-1698)Cga>Tga		EPM2A (laforin) interacting protein 1		G	stop/ARG	0,3774		0,0,1887	74	72	73		1696	1.5	1	3		73	1,8235		0,1,4117	no	stop-gained	EPM2AIP1	NM_014805.3		0,1,6004	AA,AG,GG		0.0121,0.0,0.0083		566/608	37032873	1,12009	1887	4118	6005	SO:0001587	stop_gained	9852					endoplasmic reticulum		g.chr3:37032873G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1696C>T	3.37:g.37032873G>A	ENSP00000406027:p.Arg566*						p.R566*	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	1922	-			566					O94866|Q9H3L3	Nonsense_Mutation	SNP	ENST00000322716.5	37	c.1696C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	37	6.597560	0.97692	0.0	1.21E-4	ENSG00000178567	ENST00000322716	.	.	.	4.66	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-16.2379	11.6709	0.51401	0.0:0.0:0.575:0.425	.	.	.	.	X	566	.	ENSP00000406027:R566X	R	-	1	2	EPM2AIP1	37007877	0.783000	0.28701	0.981000	0.43875	0.986000	0.74619	1.130000	0.31393	0.481000	0.27557	0.655000	0.94253	CGA		0.453	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		26	69	0	0	0	1	0	26	69					A	37032873	G	A	37032873	4	1	453	1	0	0	0	0	0	1	0	0	5184	1066	37	1	131	1	EPM2AIP1	3	37032873	Nonsense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		37032873	160989557	6	37906											
FSTL1	11167	broad.mit.edu	37	chr3	120123741	120123741	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtctggatacgttgtaatAttgatggcagtttcattctg	11	5	3	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:120123741A>G	ENST00000295633.3	-	7	896	c.540T>C	c.(538-540)aaT>aaC	p.N180N	FSTL1_ENST00000424703.2_Silent_p.N145N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	180					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)		ACGTTGTAATATTGATGGCAG	0.453																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(538-540)aaT>aaC		follistatin-like 1							247	230	236					3																	120123741		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120123741A>G	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.540T>C	3.37:g.120123741A>G						FSTL1_ENST00000424703.2_Silent_p.N145N	p.N180N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	7	896	-			180					A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.540T>C	CCDS2998.1																																																																																				0.453	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		24	76	0	0	0	1	0	24	76					G	120123741	A	G	120123741	2	3	453	1	0	0	0	0	0	0	0	1	6077	446	16	3		3	FSTL1	3	120123741	Silent	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	83090868	120123741	77898689	7	37907											
UGT2A1	10941	broad.mit.edu	37	chr4	70460268	70460268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttaggttcacttccaCagctgctcctttggccttca	8	12	2	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:70460268C>A	ENST00000503640.1	-	5	1286	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	411					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCACTTCCACAGCTGCTCCT	0.443																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1231-1233)Gtg>Ttg		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							166	143	151					4																	70460268		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70460268C>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1231G>T	4.37:g.70460268C>A	ENSP00000424478:p.Val411Leu					UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L	p.V411L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			5	1286	-			411					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1231G>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636658	0.47049	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	4.53	4.53	0.55603	.	0.283842	0.32655	N	0.005804	T	0.69513	0.3119	L	0.46885	1.475	.	.	.	B;B;B;D;D	0.60160	0.082;0.302;0.104;0.984;0.987	B;B;B;D;D	0.75484	0.062;0.168;0.086;0.966;0.986	T	0.75869	-0.3165	9	0.51188	T	0.08	.	8.7224	0.34449	0.0:0.8983:0.0:0.1017	.	577;577;367;420;411	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	420;411;367;577;411	ENSP00000387888:V420L;ENSP00000424478:V411L;ENSP00000421432:V367L;ENSP00000425497:V577L;ENSP00000286604:V411L	ENSP00000286604:V411L	V	-	1	0	UGT2A1	70494857	0.136000	0.22515	1.000000	0.80357	0.895000	0.52256	0.527000	0.22987	2.512000	0.84698	0.644000	0.83932	GTG		0.443	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		20	112	1	0	7.21436e-19	1	7.75275e-19	20	112					A	70460268	C	A	70460268	3	1	453	1	0	0	0	0	1	0	0	0	16950	478	17	4	360	4	UGT2A1	4	70460268	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		70460268	120694008	8	37908											
CSN3	1448	broad.mit.edu	37	chr4	71114860	71114860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taataatccatatgtgcctcGcacatattatgcaaacccag	5	11	0	0	rs577013157		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:71114860G>A	ENST00000304954.3	+	4	319	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TATGTGCCTCGCACATATTAT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.001					ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(232-234)cGc>cAc		casein kappa							120	110	113					4																	71114860		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114860G>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.233G>A	4.37:g.71114860G>A	ENSP00000304822:p.Arg78His						p.R78H	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			4	319	+			78					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.233G>A	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654703	0.47467	.	.	ENSG00000171209	ENST00000304954	T	0.21543	2.0	4.38	-5.39	0.02664	.	1.499990	0.03679	N	0.245165	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.22034	-1.0228	10	0.44086	T	0.13	-3.3053	1.7952	0.03059	0.4336:0.1242:0.0848:0.3574	.	78	P07498	CASK_HUMAN	H	78	ENSP00000304822:R78H	ENSP00000304822:R78H	R	+	2	0	CSN3	71149449	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.207000	0.09384	-0.883000	0.03982	-1.375000	0.01183	CGC		0.448	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		16	43	0	0	0	1	0	16	43					A	71114860	G	A	71114860	3	1	453	1	0	0	0	0	1	0	0	0	3949	1087	38	1	243	1	CSN3	4	71114860	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	654592	71114860	120039416	9	37909											
KIAA1109	84162	broad.mit.edu	37	chr4	123151111	123151111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaattcgagttgcaaactGtaatctccacaatcaatcgg	7	10	2	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:123151111G>A	ENST00000264501.4	+	26	3441	c.3068G>A	c.(3067-3069)tGt>tAt	p.C1023Y	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y			Q2LD37	K1109_HUMAN	KIAA1109	1023					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGCAAACTGTAATCTCCAC	0.343																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(3067-3069)tGt>tAt		KIAA1109							57	52	54					4																	123151111		1839	4092	5931	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123151111G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3068G>A	4.37:g.123151111G>A	ENSP00000264501:p.Cys1023Tyr					KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y	p.C1023Y			Q2LD37	K1109_HUMAN			26	3441	+			1023					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3068G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565673	0.86439	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.66995	0.33;0.33;-0.24	5.59	5.59	0.84812	.	1.213970	0.06271	U	0.695629	D	0.85039	0.5606	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.77125	-0.2703	10	0.87932	D	0	.	19.5871	0.95493	0.0:0.0:1.0:0.0	.	1023	Q2LD37	K1109_HUMAN	Y	1023	ENSP00000264501:C1023Y;ENSP00000373390:C1023Y;ENSP00000389925:C1023Y	ENSP00000264501:C1023Y	C	+	2	0	KIAA1109	123370561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.389000	0.97243	2.612000	0.88384	0.650000	0.86243	TGT		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		13	49	0	0	0	1	0	13	49					A	123151111	G	A	123151111	3	1	453	1	0	0	0	0	1	0	0	0	8208	1377	48	2	3162	2	KIAA1109	4	123151111	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	52036251	123151111	68003165	10	37910											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367380	184367380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaacgtgtatagggtcGgccatcaaatcagagagtgg	13	7	3	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:184367380G>A	ENST00000504169.1	+	3	750	c.543G>A	c.(541-543)tcG>tcA	p.S181S	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	181	Ser-rich.				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)		GTATAGGGTCGGCCATCAAAT	0.483																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(541-543)tcG>tcA		CDKN2A interacting protein							94	92	92					4																	184367380		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367380G>A	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.543G>A	4.37:g.184367380G>A						CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.S181S	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		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)	3	750	+		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)	181			Ser-rich.		Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.543G>A	CCDS34110.1																																																																																				0.483	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		4	64	0	0	0	1	0	4	64					A	184367380	G	A	184367380	2	1	453	1	0	0	0	0	0	0	0	1	3162	1103	39	1		1	CDKN2AIP	4	184367380	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	61216269	184367380	6786896	11	37911											
KIAA0947	23379	broad.mit.edu	37	chr5	5463794	5463794	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacattcctggagacatcccTatttctcaggatcaaggaga	9	10	2	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:5463794T>A	ENST00000296564.7	+	13	4569	c.4347T>A	c.(4345-4347)ccT>ccA	p.P1449P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1449					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						GAGACATCCCTATTTCTCAGG	0.522																																						ENST00000296564.7																			0				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						c.(4345-4347)ccT>ccA		KIAA0947							83	81	82					5																	5463794		1967	4167	6134	SO:0001819	synonymous_variant	23379							g.chr5:5463794T>A																												ENST00000296564.7:c.4347T>A	5.37:g.5463794T>A							p.P1449P	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4569	+			1449					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4347T>A	CCDS47187.1																																																																																				0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			8	73	0	0	0	1	0	8	73					A	5463794	T	A	5463794	2	1	453	1	0	0	0	0	0	0	0	1	8202	1509	53	5		5	KIAA0947	5	5463794	Silent	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08		5463794	175451466	12	37912											
EMB	133418	broad.mit.edu	37	chr5	49723994	49723994	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagtcagtgatatgttAtgactctccaaggaaaagtt	8	7	2	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:49723994A>T	ENST00000303221.5	-	2	395	c.180T>A	c.(178-180)caT>caA	p.H60Q	EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000514111.1_Missense_Mutation_p.H10Q|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	60					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGATATGTTATGACTCTCCA	0.328																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(178-180)caT>caA		embigin							123	121	122					5																	49723994		2203	4300	6503	SO:0001583	missense	133418					integral to membrane		g.chr5:49723994A>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30465	protein-coding gene	gene with protein product		615669	"embigin homolog (mouse)"			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.180T>A	5.37:g.49723994A>T	ENSP00000302289:p.His60Gln					EMB_ENST00000514111.1_Missense_Mutation_p.H10Q|EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000506190.1_5'UTR	p.H60Q	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			2	395	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	60					B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.180T>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	A	7.465	0.645454	0.14451	.	.	ENSG00000170571	ENST00000303221;ENST00000508934;ENST00000514111	T;T;T	0.47177	0.97;0.85;1.02	4.43	2.03	0.26663	.	1.148420	0.06250	N	0.691849	T	0.32071	0.0817	N	0.19112	0.55	0.20638	N	0.99987	P;P	0.50943	0.94;0.94	B;B	0.41571	0.36;0.36	T	0.16482	-1.0401	9	.	.	.	-0.3527	6.1331	0.20217	0.7985:0.0:0.2015:0.0	.	60;60	D6RDX7;Q6PCB8	.;EMB_HUMAN	Q	60;60;10	ENSP00000302289:H60Q;ENSP00000425215:H60Q;ENSP00000426404:H10Q	.	H	-	3	2	EMB	49759751	0.930000	0.31532	0.681000	0.30009	0.392000	0.30506	1.462000	0.35266	0.465000	0.27167	0.533000	0.62120	CAT		0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		10	46	0	0	0	1	0	10	46					T	49723994	A	T	49723994	3	4	453	1	0	0	0	0	1	0	0	0	5085	446	16	5	835	5	EMB	5	49723994	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	44260200	49723994	131191266	13	37913											
ATF6B	1388	broad.mit.edu	37	chr6	32089121	32089121	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaggttctatcttggtctgGacatctgtgggaggcaggat	14	7	4	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:32089121G>C	ENST00000375203.3	-	6	515	c.483C>G	c.(481-483)gtC>gtG	p.V161V	ATF6B_ENST00000375201.4_Silent_p.V158V	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	161					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTTGGTCTGGACATCTGTGG	0.547																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(472-474)gtC>gtG		activating transcription factor 6 beta							112	84	93					6																	32089121		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32089121G>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.483C>G	6.37:g.32089121G>C						ATF6B_ENST00000375203.3_Silent_p.V161V	p.V158V			Q99941	ATF6B_HUMAN			6	519	-			161					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.474C>G	CCDS4737.1																																																																																				0.547	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			10	20	0	0	0	1	0	10	20					C	32089121	G	C	32089121	2	2	453	1	0	0	0	0	0	0	0	1	1085	1161	41	4		4	ATF6B	6	32089121	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		32089121	139025946	14	37914											
IL17F	112744	broad.mit.edu	37	chr6	52101833	52101833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttggtgcttcctccggaCgaccagggtctcttgctgga	13	13	1	0	rs141798304	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:52101833C>T	ENST00000336123.4	-	3	495	c.388G>A	c.(388-390)Gtc>Atc	p.V130I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	130					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTCCTCCGGACGACCAGGGTC	0.542																																						ENST00000336123.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14						c.(388-390)Gtc>Atc		interleukin 17F		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	92	84	87		388	4.9	1	6	dbSNP_134	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	IL17F	NM_052872.3	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	130/164	52101833	5,13001	2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52101833C>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"Interleukins and interleukin receptors"	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.388G>A	6.37:g.52101833C>T	ENSP00000337432:p.Val130Ile						p.V130I	NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN			3	495	-	Lung NSC(77;0.116)		130					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.388G>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915084	0.52546	2.27E-4	4.65E-4	ENSG00000112116	ENST00000336123	T	0.54866	0.55	5.72	4.86	0.63082	.	0.070131	0.64402	D	0.000019	T	0.20455	0.0492	N	0.14661	0.345	0.22989	N	0.998468	B	0.19817	0.039	B	0.17098	0.017	T	0.21211	-1.0252	10	0.66056	D	0.02	-31.8382	14.6124	0.68524	0.0:0.1482:0.8518:0.0	.	130	Q96PD4	IL17F_HUMAN	I	130	ENSP00000337432:V130I	ENSP00000337432:V130I	V	-	1	0	IL17F	52209792	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.094000	0.57721	1.443000	0.47586	-0.133000	0.14855	GTC		0.542	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		8	44	0	0	0	1	0	8	44					T	52101833	C	T	52101833	3	4	453	1	0	0	0	0	1	0	0	0	7638	536	19	1	107	1	IL17F	6	52101833	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	20012712	52101833	119013234	15	37915											
HMGCLL1	54511	broad.mit.edu	37	chr6	55406633	55406633	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatctgtaggaactataAcctatgaaaacaaaaaatat	4	5	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:55406633A>G	ENST00000398661.2	-	4	412	c.281T>C	c.(280-282)gTt>gCt	p.V94A	HMGCLL1_ENST00000428842.1_Splice_Site_p.V64A|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64A|HMGCLL1_ENST00000308161.4_Splice_Site_p.V64A|HMGCLL1_ENST00000370850.2_Splice_Site_p.V64A|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64A	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	94					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGAACTATAACCTATGAAAA	0.294																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e4-1		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							57	53	54					6																	55406633		1780	4058	5838	SO:0001630	splice_region_variant	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55406633A>G	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.280-1T>C	6.37:g.55406633A>G						HMGCLL1_ENST00000308161.4_Splice_Site_p.V64_splice|HMGCLL1_ENST00000428842.1_Splice_Site_p.V64_splice|HMGCLL1_ENST00000370850.2_Splice_Site_p.V64_splice|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64_splice|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64_splice	p.V94_splice	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	412	-	Lung NSC(77;0.0875)		94					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Splice_Site	SNP	ENST00000398661.2	37	c.279_splice	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	A	3.183	-0.167517	0.06461	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.98249	-4.82;-4.82;-4.3;-4.56;-4.82;-4.56	5.75	3.39	0.38822	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.110569	0.64402	D	0.000014	T	0.82240	0.4994	N	0.03154	-0.405	0.31368	N	0.680552	B;B;B;B;B;B	0.28584	0.145;0.216;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.26416	0.069;0.042;0.002;0.003;0.002;0.006	T	0.76756	-0.2842	10	0.07325	T	0.83	-5.7371	4.3552	0.11174	0.6512:0.0:0.2109:0.1379	.	64;64;64;64;64;94	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	A	64;94;64;64;64;64	ENSP00000274901:V64A;ENSP00000381654:V94A;ENSP00000359887:V64A;ENSP00000424309:V64A;ENSP00000309737:V64A;ENSP00000412924:V64A	ENSP00000274901:V64A	V	-	2	0	HMGCLL1	55514592	0.992000	0.36948	0.999000	0.59377	0.946000	0.59487	1.994000	0.40757	0.999000	0.39023	0.533000	0.62120	GTT		0.294	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	Missense_Mutation	26	89	0	0	0	1	0	26	89					G	55406633	A	G	55406633	5	3	453	1	0	0	0	0	0	0	1	0	7230	57	2	3	859	3	HMGCLL1	6	55406633	Splice_Site	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	3304800	55406633	115708434	16	37916											
EPB41L2	2037	broad.mit.edu	37	chr6	131211436	131211436	+	Missense_Mutation	SNP	C	C	G													tatcataaatgtgtttacctCcatctagactcctggagacc							TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211436C>G	ENST00000337057.3	-	11	1839	c.1658G>C	c.(1657-1659)gGa>gCa	p.G553A	EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	553	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGTTTACCTCCATCTAGACT	0.448																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1657-1659)gGa>gCa		erythrocyte membrane protein band 4.1-like 2							115	130	125					6																	131211436		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211436C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1658G>C	6.37:g.131211436C>G	ENSP00000338481:p.Gly553Ala					EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A	p.G553A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1839	-	Breast(56;0.0639)		553			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1658G>C	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902784|3.902784	0.72754|0.72754	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208|ENST00000456097	D;D;D;D;D;D;D;D;D;D;D|.	0.87491|.	-2.08;-2.06;-2.08;-2.26;-2.09;-2.26;-2.11;-2.09;-2.03;-2.09;-2.11|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.89917|.	1.0;0.999;1.0;0.999;0.684|.	D;D;D;D;B|.	0.91635|.	0.998;0.997;0.998;0.999;0.225|.	T|T	0.69355|0.69355	-0.5167|-0.5167	10|5	0.49607|.	T|.	0.09|.	.|.	19.2709|19.2709	0.94010|0.94010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	553;553;553;553;553|.	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2|.	.;.;.;E41L2_HUMAN;.|.	A|C	553|43	ENSP00000434308:G553A;ENSP00000434576:G553A;ENSP00000402041:G553A;ENSP00000338481:G553A;ENSP00000376222:G553A;ENSP00000357110:G553A;ENSP00000436348:G553A;ENSP00000432803:G553A;ENSP00000431988:G553A;ENSP00000431647:G553A;ENSP00000436641:G553A|.	ENSP00000338481:G553A|.	G|W	-|-	2|3	0|0	EPB41L2|EPB41L2	131253129|131253129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.818000|7.818000	0.86416|0.86416	2.567000|2.567000	0.86603|0.86603	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.448	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			26	132	0	0	0	1	0	26	132					G	131211436	C	G	131211436	3	3	453	1	0	0	0	0	1	0	0	0	5153	855	30	4	1395	4	EPB41L2	6	131211436	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	75804803	131211436	39903631	17	37917	158	2									
EPB41L2	2037	broad.mit.edu	37	chr6	131211445	131211445	+	Missense_Mutation	SNP	C	C	T													tgtgtttacctccatctagaCtcctggagacccgtttacta							TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211445C>T	ENST00000337057.3	-	11	1830	c.1649G>A	c.(1648-1650)aGt>aAt	p.S550N	EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	550	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCATCTAGACTCCTGGAGAC	0.453																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1648-1650)aGt>aAt		erythrocyte membrane protein band 4.1-like 2							125	139	134					6																	131211445		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211445C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1649G>A	6.37:g.131211445C>T	ENSP00000338481:p.Ser550Asn					EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N	p.S550N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1830	-	Breast(56;0.0639)		550			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1649G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951612	0.53186	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.44	0.465	0.16711	FERM adjacent (FA) (1);	0.217332	0.56097	D	0.000038	D	0.88869	0.6554	M	0.90309	3.105	0.53005	D	0.999961	B;B;B;B;D	0.65815	0.018;0.008;0.008;0.003;0.995	B;B;B;B;P	0.62740	0.046;0.025;0.025;0.042;0.906	D	0.85411	0.1137	10	0.87932	D	0	.	3.3801	0.07251	0.2428:0.508:0.1174:0.1318	.	550;550;550;550;550	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	N	550	ENSP00000434308:S550N;ENSP00000434576:S550N;ENSP00000402041:S550N;ENSP00000338481:S550N;ENSP00000376222:S550N;ENSP00000357110:S550N;ENSP00000436348:S550N;ENSP00000432803:S550N;ENSP00000431988:S550N;ENSP00000431647:S550N;ENSP00000436641:S550N	ENSP00000338481:S550N	S	-	2	0	EPB41L2	131253138	1.000000	0.71417	0.716000	0.30569	0.992000	0.81027	2.687000	0.46976	-0.221000	0.09973	0.555000	0.69702	AGT		0.453	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			29	137	0	0	0	1	0	29	137					T	131211445	C	T	131211445	3	4	453	1	0	0	0	0	1	0	0	0	5153	565	20	2	1404	2	EPB41L2	6	131211445	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	9	131211445	39903622	18	37918	158	2									
EPB41L2	2037	broad.mit.edu	37	chr6	131211508	131211508	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctatctatgagggtgCtggcctggcgggtctgtgct	16	10	2	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211508C>G	ENST00000337057.3	-	11	1767	c.1586G>C	c.(1585-1587)aGc>aCc	p.S529T	EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	529	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TATGAGGGTGCTGGCCTGGCG	0.507																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1585-1587)aGc>aCc		erythrocyte membrane protein band 4.1-like 2							127	138	134					6																	131211508		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211508C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1586G>C	6.37:g.131211508C>G	ENSP00000338481:p.Ser529Thr					EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T	p.S529T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1767	-	Breast(56;0.0639)		529			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1586G>C	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939595|4.939595	0.92526|0.92526	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000456097|ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89050	.|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.44|5.44	5.44|5.44	0.79542|0.79542	.|FERM adjacent (FA) (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94591|0.94591	0.8257|0.8257	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P	.|0.76494	.|0.999;0.999;0.999;0.999;0.644	.|D;D;D;D;B	.|0.87578	.|0.996;0.995;0.996;0.998;0.284	D|D	0.94898|0.94898	0.8054|0.8054	5|10	.|0.87932	.|D	.|0	.|.	19.2709|19.2709	0.94010|0.94010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|529;529;529;529;529	.|E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.|.;.;.;E41L2_HUMAN;.	H|T	19|529	.|ENSP00000434308:S529T;ENSP00000434576:S529T;ENSP00000402041:S529T;ENSP00000338481:S529T;ENSP00000376222:S529T;ENSP00000357110:S529T;ENSP00000436348:S529T;ENSP00000432803:S529T;ENSP00000431988:S529T;ENSP00000431647:S529T;ENSP00000436641:S529T	.|ENSP00000338481:S529T	Q|S	-|-	3|2	2|0	EPB41L2|EPB41L2	131253201|131253201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.567000|2.567000	0.86603|0.86603	0.555000|0.555000	0.69702|0.69702	CAG|AGC		0.507	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			29	117	0	0	0	1	0	29	117					G	131211508	C	G	131211508	3	3	453	1	0	0	0	0	1	0	0	0	5153	797	28	4	1467	4	EPB41L2	6	131211508	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	63	131211508	39903559	19	37919											
CDCA7L	55536	broad.mit.edu	37	chr7	21948089	21948089	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctcgctcaccaaagAtgctttgccatcatcactca	4	16	5	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:21948089A>C	ENST00000406877.3	-	4	619	c.340T>G	c.(340-342)Tct>Gct	p.S114A	CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	114	PSIP1-binding.				positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTCACCAAAGATGCTTTGCCA	0.418																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(340-342)Tct>Gct		cell division cycle associated 7-like							91	83	86					7																	21948089		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21948089A>C		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.340T>G	7.37:g.21948089A>C	ENSP00000383986:p.Ser114Ala					CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A	p.S114A	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			4	619	-			114			PSIP1-binding.		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.340T>G	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604583	0.46423	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951;ENST00000447180;ENST00000435031	T;T;T;T	0.44881	0.96;0.96;0.99;0.91	5.95	-3.2	0.05156	.	0.885835	0.10014	N	0.726880	T	0.24314	0.0589	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.20974	-1.0259	10	0.40728	T	0.16	-10.2615	2.5008	0.04633	0.5097:0.2018:0.1903:0.0981	.	114;68;114;113	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	A	80;114;68;67;79;80	ENSP00000348523:S80A;ENSP00000383986:S114A;ENSP00000363045:S68A;ENSP00000406616:S67A	ENSP00000348523:S80A	S	-	1	0	CDCA7L	21914614	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.350000	0.07721	-0.399000	0.07668	0.533000	0.62120	TCT		0.418	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		9	91	0	0	0	1	0	9	91					C	21948089	A	C	21948089	3	2	453	1	0	0	0	0	1	0	0	0	3091	333	12	5	1052	5	CDCA7L	7	21948089	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		21948089	137190574	20	37920											
HECW1	23072	broad.mit.edu	37	chr7	43591856	43591856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtccgtgtttgatgcCagggagctggagctggtgat	17	7	0	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:43591856C>T	ENST00000395891.2	+	28	5036	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	HECW1_ENST00000453890.1_Silent_p.A1443A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1477	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						TGTTTGATGCCAGGGAGCTGG	0.517																																						ENST00000395891.1																			0				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						c.(4429-4431)gcC>gcT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							118	123	122					7																	43591856		2036	4186	6222	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43591856C>T	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.4431C>T	7.37:g.43591856C>T						HECW1_ENST00000453890.1_Silent_p.A1443A	p.A1477A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			28	5036	+			1477			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4431C>T	CCDS5469.2																																																																																				0.517	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		13	89	0	0	0	1	0	13	89					T	43591856	C	T	43591856	2	4	453	1	0	0	0	0	0	0	0	1	7042	581	21	2		2	HECW1	7	43591856	Silent	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	21643767	43591856	115546807	21	37921											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	6	0	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.L62R(3)		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)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		3	Substitution - Missense(3)	p.L62R(3)	lung(2)|central_nervous_system(1)	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						c.(184-186)cTt>cGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175	167	170					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		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.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		2	362	+	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)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	118	0	0	0	1	0	38	118					G	55210075	T	G	55210075	3	3	453	1	0	0	0	0	1	0	0	0	4967	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	11618219	55210075	103928588	22	37922											
ZNF479	90827	broad.mit.edu	37	chr7	57194409	57194409	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaattctatagctatgtctCtgaatgtcaacagtccctgg	8	9	3	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:57194409C>G	ENST00000331162.4	-	3	326	c.56G>C	c.(55-57)aGa>aCa	p.R19T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	19	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)			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)			AGCTATGTCTCTGAATGTCAA	0.413																																						ENST00000331162.4																			0				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						c.(55-57)aGa>aCa		zinc finger protein 479							41	42	42					7																	57194409		2120	4261	6381	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194409C>G	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.56G>C	7.37:g.57194409C>G	ENSP00000333776:p.Arg19Thr						p.R19T	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	326	-			19			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.56G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	8.707	0.911132	0.17833	.	.	ENSG00000185177	ENST00000331162	T	0.01804	4.63	1.25	-1.43	0.08884	Krueppel-associated box (4);	.	.	.	.	T	0.07954	0.0199	M	0.82823	2.61	0.09310	N	1	D	0.69078	0.997	D	0.80764	0.994	T	0.10086	-1.0645	9	0.54805	T	0.06	.	5.7014	0.17885	0.0:0.6096:0.0:0.3904	.	19	Q96JC4	ZN479_HUMAN	T	19	ENSP00000333776:R19T	ENSP00000333776:R19T	R	-	2	0	ZNF479	57198351	0.005000	0.15991	0.005000	0.12908	0.001000	0.01503	-0.424000	0.07025	-0.285000	0.09089	-0.515000	0.04445	AGA		0.413	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	101	0	0	0	1	0	15	101					G	57194409	C	G	57194409	3	3	453	1	0	0	0	0	1	0	0	0	17930	913	32	4	1530	4	ZNF479	7	57194409	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	1984334	57194409	101944254	23	37923											
ZAN	7455	broad.mit.edu	37	chr7	100349693	100349693	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccacagaaaaacccacCgtccccacagaagagcccac	5	17	0	3	rs370829788		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100349693C>T	ENST00000348028.3	+	0	2130				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_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)			AAAAACCCACCGTCCCCACAG	0.517																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							209	236	227					7																	100349693		1883	4115	5998			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349693C>T	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.100349693C>T						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2113	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		34	152	0	0	0	1	0	34	152					T	100349693	C	T	100349693	1	4	453	0	1	0	0	0	0	0	0	0	17510	639	23	1		1	ZAN	7	100349693	RNA	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	43155284	100349693	58788970	24	37924											
MUC17	140453	broad.mit.edu	37	chr7	100678561	100678561	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatacctgtcagcaccacGctggtgaccagtcctgaggc	11	13	1	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	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)	p.T1288T(1)		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)					TCAGCACCACGCTGGTGACCA	0.473																																						ENST00000306151.4																			1	Substitution - coding silent(1)	p.T1288T(1)	lung(1)	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						c.(3862-3864)acG>acT		mucin 17, cell surface associated							272	261	265					7																	100678561		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678561G>T	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.3864G>T	7.37:g.100678561G>T							p.T1288T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3928	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1288			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3864G>T	CCDS34711.1																																																																																				0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	744	1	0	6.94344e-10	1	7.14183e-10	7	744					T	100678561	G	T	100678561	2	4	453	1	0	0	0	0	0	0	0	1	9974	1074	38	4		4	MUC17	7	100678561	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	328868	100678561	58460102	25	37925											
FAM71F2	346653	broad.mit.edu	37	chr7	128317737	128317737	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaaaaacacccagagaTtgtgtttcaattctgggtcc	8	11	2	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:128317737T>C	ENST00000480462.1	+	3	591	c.485T>C	c.(484-486)aTt>aCt	p.I162T	FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	162										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CACCCAGAGATTGTGTTTCAA	0.507																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(484-486)aTt>aCt		family with sequence similarity 71, member F2							62	64	63					7																	128317737		1991	4219	6210	SO:0001583	missense	346653							g.chr7:128317737T>C	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.485T>C	7.37:g.128317737T>C	ENSP00000420140:p.Ile162Thr					FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T	p.I162T			Q6NXP2	F71F2_HUMAN			3	591	+			162					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.485T>C	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.944381	0.00479	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.6	3.72	0.42706	.	0.740645	0.12048	N	0.504374	T	0.03220	0.0094	N	0.00483	-1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38351	-0.9665	10	0.07175	T	0.84	-10.1319	7.6617	0.28407	0.0:0.8108:0.0:0.1892	.	153;162	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	T	153;162;153;153	ENSP00000418907:I153T;ENSP00000420140:I162T;ENSP00000367976:I153T;ENSP00000401654:I153T	ENSP00000367976:I153T	I	+	2	0	FAM71F2	128104973	0.001000	0.12720	0.696000	0.30242	0.031000	0.12232	0.672000	0.25187	1.347000	0.45714	-0.182000	0.12963	ATT		0.507	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			7	113	0	0	0	1	0	7	113					C	128317737	T	C	128317737	3	2	453	1	0	0	0	0	1	0	0	0	5613	1493	52	3	495	3	FAM71F2	7	128317737	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	27639176	128317737	30820926	26	37926											
PCM1	5108	broad.mit.edu	37	chr8	17823519	17823519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttaggtggaagaacaAttgccctttttcggcagatg	12	6	0	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:17823519A>G	ENST00000519253.1	+	19	3118	c.2867A>G	c.(2866-2868)aAt>aGt	p.N956S	PCM1_ENST00000325083.8_Missense_Mutation_p.N956S|PCM1_ENST00000524226.1_Missense_Mutation_p.N957S			Q15154	PCM1_HUMAN	pericentriolar material 1	956					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)		TGGAAGAACAATTGCCCTTTT	0.388			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(2866-2868)aAt>aGt		pericentriolar material 1							77	72	74					8																	17823519		1887	4115	6002	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17823519A>G		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.2867A>G	8.37:g.17823519A>G	ENSP00000431099:p.Asn956Ser					PCM1_ENST00000524226.1_Missense_Mutation_p.N957S|PCM1_ENST00000519253.1_Missense_Mutation_p.N956S	p.N956S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	19	3306	+			956					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2867A>G		.	.	.	.	.	.	.	.	.	.	A	11.08	1.534229	0.27475	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.18016	2.24;2.24;2.24	5.85	-2.66	0.06077	.	0.623386	0.19571	N	0.111093	T	0.05456	0.0144	N	0.04508	-0.205	0.22947	N	0.998529	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42632	-0.9440	10	0.08599	T	0.76	-3.6565	9.4921	0.38967	0.3468:0.121:0.5322:0.0	.	956;957;956	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	S	956;956;957	ENSP00000327077:N956S;ENSP00000431099:N956S;ENSP00000430521:N957S	ENSP00000327077:N956S	N	+	2	0	PCM1	17867799	0.025000	0.19082	0.978000	0.43139	0.957000	0.61999	-0.038000	0.12144	-0.258000	0.09446	-0.250000	0.11733	AAT		0.388	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		6	30	0	0	0	1	0	6	30					G	17823519	A	G	17823519	3	3	453	1	0	0	0	0	1	0	0	0	11584	101	4	3	2933	3	PCM1	8	17823519	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		17823519	128540503	27	37927											
ADAM2	2515	broad.mit.edu	37	chr8	39645770	39645770	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattaaatgaaacaaaaaTctaaaatagaaaacatacaa	2	4	1	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:39645770T>C	ENST00000265708.4	-	9	746	c.643A>G	c.(643-645)Att>Gtt	p.I215V	ADAM2_ENST00000347580.4_Splice_Site_p.I196V|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Splice_Site_p.I215V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	215	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GAAACAAAAATCTAAAATAGA	0.239																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.e9-1		ADAM metallopeptidase domain 2							37	40	39					8																	39645770		2162	4265	6427	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645770T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.643-1A>G	8.37:g.39645770T>C						ADAM2_ENST00000347580.4_Splice_Site_p.I196_splice|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Splice_Site_p.I215_splice	p.I215_splice	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	9	746	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	215			Peptidase M12B.		P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.642_splice	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	6.933	0.541786	0.13250	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.65364	-0.15;-0.15;-0.15	4.71	2.2	0.27929	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.50326	0.1609	L	0.47016	1.485	0.27682	N	0.946416	B;B;B	0.20671	0.022;0.038;0.047	B;B;B	0.28011	0.05;0.051;0.085	T	0.42582	-0.9443	8	.	.	.	.	3.3452	0.07132	0.1976:0.1202:0.0:0.6822	.	215;196;215	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	V	196;215;215	ENSP00000343854:I196V;ENSP00000265708:I215V;ENSP00000429352:I215V	.	I	-	1	0	ADAM2	39764927	1.000000	0.71417	0.982000	0.44146	0.580000	0.36256	0.926000	0.28804	0.227000	0.20999	0.377000	0.23210	ATT		0.239	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Missense_Mutation	20	70	0	0	0	1	0	20	70					C	39645770	T	C	39645770	5	2	453	1	0	0	0	0	0	0	1	0	241	1449	50	3	1612	3	ADAM2	8	39645770	Splice_Site	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	21822251	39645770	106718252	28	37928											
RGS22	26166	broad.mit.edu	37	chr8	100990160	100990160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctttccagatttttcGtcttctaggactgccaattt	5	12	3	1	rs372450445	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:100990160G>A	ENST00000360863.6	-	23	3698	c.3504C>T	c.(3502-3504)gaC>gaT	p.D1168D	RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1168					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGATTTTTCGTCTTCTAGGA	0.303													G|||	2	0.000399361	0.0	0.0	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.002					ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3502-3504)gaC>gaT		regulator of G-protein signaling 22		G		1,3595		0,1,1797	98	91	93		3504	-11.1	0	8		93	0,8142		0,0,4071	no	coding-synonymous	RGS22	NM_015668.3		0,1,5868	AA,AG,GG		0.0,0.0278,0.0085		1168/1265	100990160	1,11737	1798	4071	5869	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990160G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3504C>T	8.37:g.100990160G>A						RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D	p.D1168D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3698	-			1168					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.3504C>T	CCDS43758.1																																																																																				0.303	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		21	48	0	0	0	1	0	21	48					A	100990160	G	A	100990160	2	1	453	1	0	0	0	0	0	0	0	1	13305	1136	40	1		1	RGS22	8	100990160	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	61344390	100990160	45373862	29	37929											
GRIN1	2902	broad.mit.edu	37	chr9	140040319	140040319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccgggcggctcagaaaCgcctggagacgctgctggag	18	11	1	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:140040319C>T	ENST00000371561.3	+	3	1632	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	179					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)	GGCTCAGAAACGCCTGGAGAC	0.672																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(535-537)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						40	28	32					9																	140040319		2202	4298	6500	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140040319C>T		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.535C>T	9.37:g.140040319C>T	ENSP00000360616:p.Arg179Cys					GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C	p.R179C	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	3	1632	+	all_cancers(76;0.0926)		179					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.535C>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636939	0.67130	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	3.86	3.86	0.44501	Extracellular ligand-binding receptor (1);	0.238566	0.35235	N	0.003344	D	0.89938	0.6860	M	0.71036	2.16	0.52501	D	0.999951	D;D;D;D;D;D	0.89917	0.99;0.961;0.997;0.999;0.999;1.0	P;P;P;D;D;D	0.72625	0.851;0.67;0.895;0.935;0.961;0.978	D	0.90054	0.4151	10	0.72032	D	0.01	.	9.0984	0.36653	0.3508:0.6492:0.0:0.0	.	179;179;179;179;179;179	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	C	179	ENSP00000360616:R179C;ENSP00000316696:R179C;ENSP00000316915:R179C;ENSP00000360605:R179C;ENSP00000360601:R179C;ENSP00000360610:R179C;ENSP00000360608:R179C;ENSP00000360614:R179C;ENSP00000360615:R179C	ENSP00000316696:R179C	R	+	1	0	GRIN1	139160140	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.054000	0.64275	1.696000	0.51158	0.313000	0.20887	CGC		0.672	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		4	5	0	0	0	1	0	4	5					T	140040319	C	T	140040319	3	4	453	1	0	0	0	0	1	0	0	0	6778	536	19	1	545	1	GRIN1	9	140040319	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		140040319	1173112	30	37930											
OR4C6	219432	broad.mit.edu	37	chr11	55433374	55433374	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctcccacctcacggtGgttgtattgttctttgtccc	9	13	2	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(730-732)gtG>gtT		olfactory receptor, family 4, subfamily C, member 6							118	117	118					11																	55433374		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433374G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.732G>T	11.37:g.55433374G>T							p.V244V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	761	+			244					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.732G>T	CCDS31506.1																																																																																				0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		47	133	1	0	6.23363e-37	1	6.90495e-37	47	133					T	55433374	G	T	55433374	2	4	453	1	0	0	0	0	0	0	0	1	11052	1335	47	4		4	OR4C6	11	55433374	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		55433374	79573142	31	37931											
KRT2	3849	broad.mit.edu	37	chr12	53045508	53045508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatcctccaggcccaaagCcaccaggaccccctaaacct	7	18	0	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:53045508C>T	ENST00000309680.3	-	1	440	c.419G>A	c.(418-420)gGc>gAc	p.G140D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	140	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGGCCCAAAGCCACCAGGACC	0.592																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(418-420)gGc>gAc		keratin 2							77	77	77					12																	53045508		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045508C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.419G>A	12.37:g.53045508C>T	ENSP00000310861:p.Gly140Asp						p.G140D	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	440	-			140			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.419G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728428	0.48833	.	.	ENSG00000172867	ENST00000309680	D	0.85411	-1.98	4.91	4.91	0.64330	.	.	.	.	.	D	0.92619	0.7655	M	0.83953	2.67	0.45676	D	0.998599	D	0.89917	1.0	D	0.87578	0.998	D	0.91853	0.5493	9	0.35671	T	0.21	.	18.0882	0.89464	0.0:1.0:0.0:0.0	.	140	P35908	K22E_HUMAN	D	140	ENSP00000310861:G140D	ENSP00000310861:G140D	G	-	2	0	KRT2	51331775	0.025000	0.19082	0.996000	0.52242	0.607000	0.37147	2.750000	0.47500	2.465000	0.83290	0.655000	0.94253	GGC		0.592	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		22	45	0	0	0	1	0	22	45					T	53045508	C	T	53045508	3	4	453	1	0	0	0	0	1	0	0	0	8457	739	26	2	1536	2	KRT2	12	53045508	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		53045508	80806387	32	37932											
AGAP2	6302	broad.mit.edu	37	chr12	58135803	58135803	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttggccacctcatgtcGtctgacttctgctctcactg	8	15	4	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:58135803G>A	ENST00000257910.3	+	0	0				TSPAN31_ENST00000553221.1_Intron|AGAP2_ENST00000257897.3_Nonsense_Mutation_p.R18*	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	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)			ACCTCATGTCGTCTGACTTCT	0.592																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(52-54)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							208	166	180					12																	58135803		2203	4300	6503	SO:0001631	upstream_gene_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58135803G>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999			12.37:g.58135803G>A	Exception_encountered					TSPAN31_ENST00000553221.1_Intron	p.R18*	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			1	137	-			0			Interaction with EPB41L1 (By similarity).		O00577|Q53X76	Nonsense_Mutation	SNP	ENST00000257910.3	37	c.52C>T	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.499571	0.85176	.	.	ENSG00000135439	ENST00000257897	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6997	0.62602	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000257897:R18X	R	-	1	2	AGAP2	56422070	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.153000	0.31676	2.375000	0.81037	0.282000	0.19409	CGA		0.592	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			403	112	0	0	0	1	0	403	112					A	58135803	G	A	58135803	1	1	453	0	1	0	0	0	0	0	0	0	368	1153	40	1		1	AGAP2	12	58135803	5'Flank	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	5090295	58135803	75716092	33	37933											
NAA25	80018	broad.mit.edu	37	chr12	112499080	112499080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacaagccaagtaacctcGtcagctgcaccacacacaaa	7	14	1	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:112499080G>A	ENST00000261745.4	-	12	1510	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	421						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						AAGTAACCTCGTCAGCTGCAC	0.463																																						ENST00000261745.4																			0				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						c.(1261-1263)aCg>aTg		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							115	100	106					12																	112499080		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112499080G>A	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.1262C>T	12.37:g.112499080G>A	ENSP00000261745:p.Thr421Met						p.T421M	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			12	1510	-			421					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.1262C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239601	0.39598	.	.	ENSG00000111300	ENST00000261745	T	0.44482	0.92	5.84	4.01	0.46588	.	0.240505	0.43919	D	0.000515	T	0.21307	0.0513	N	0.08118	0	0.36735	D	0.881901	B;B	0.24576	0.106;0.106	B;B	0.14023	0.01;0.01	T	0.14227	-1.0480	10	0.33940	T	0.23	-5.1058	10.179	0.42957	0.2044:0.0:0.7956:0.0	.	421;421	A8K8X0;Q14CX7	.;NAA25_HUMAN	M	421	ENSP00000261745:T421M	ENSP00000261745:T421M	T	-	2	0	NAA25	110983463	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	3.551000	0.53698	1.486000	0.48398	0.650000	0.86243	ACG		0.463	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		7	35	0	0	0	1	0	7	35					A	112499080	G	A	112499080	3	1	453	1	0	0	0	0	1	0	0	0	10121	1145	40	1	1708	1	NAA25	12	112499080	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	54363277	112499080	21352815	34	37934											
OR4K13	390433	broad.mit.edu	37	chr14	20502322	20502322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccactgtcagcaatgAccaggagctgtaggatgtag	14	9	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:20502322A>G	ENST00000315693.2	-	1	597	c.596T>C	c.(595-597)gTc>gCc	p.V199A	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	199						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)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCAGCAATGACCAGGAGCTG	0.488																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(595-597)gTc>gCc		olfactory receptor, family 4, subfamily K, member 13							117	116	116					14																	20502322		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502322A>G		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.596T>C	14.37:g.20502322A>G	ENSP00000319322:p.Val199Ala						p.V199A	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	597	-	all_cancers(95;0.00108)		199					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.596T>C	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.315479	0.23908	.	.	ENSG00000176253	ENST00000315693	T	0.00169	8.63	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003328	T	0.00271	0.0008	M	0.64080	1.96	0.09310	N	1	P	0.41710	0.76	P	0.46208	0.507	T	0.38735	-0.9647	10	0.87932	D	0	.	11.0505	0.47884	1.0:0.0:0.0:0.0	.	199	Q8NH42	OR4KD_HUMAN	A	199	ENSP00000319322:V199A	ENSP00000319322:V199A	V	-	2	0	OR4K13	19572162	0.000000	0.05858	0.836000	0.33094	0.040000	0.13550	0.675000	0.25232	1.434000	0.47414	0.421000	0.28195	GTC		0.488	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			5	70	0	0	0	1	0	5	70					G	20502322	A	G	20502322	3	3	453	1	0	0	0	0	1	0	0	0	11068	275	10	3	320	3	OR4K13	14	20502322	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		20502322	86847218	35	37935											
RALGAPA1	253959	broad.mit.edu	37	chr14	36147303	36147303	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggactggggaagcactttCtgaacctgtaaatataattt	10	6	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:36147303C>A	ENST00000389698.3	-	21	3349	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*	RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.E1034*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	987					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						GAAGCACTTTCTGAACCTGTA	0.373																																						ENST00000258840.6																			0				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						c.(3100-3102)Gaa>Taa		Ral GTPase activating protein, alpha subunit 1 (catalytic)							58	59	59					14																	36147303		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36147303C>A	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.2959G>T	14.37:g.36147303C>A	ENSP00000374348:p.Glu987*					RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987*	p.E1034*			Q6GYQ0	RGPA1_HUMAN			22	3490	-			987					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.3100G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	44	10.699527	0.99452	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.32	5.32	0.75619	.	0.115597	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.9258	18.9714	0.92716	0.0:1.0:0.0:0.0	.	.	.	.	X	987;987;987;1034;1000;1034	.	ENSP00000258840:E1034X	E	-	1	0	RALGAPA1	35217054	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.435000	0.80391	2.484000	0.83849	0.591000	0.81541	GAA		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		11	18	1	0	1.5842e-08	1	1.60651e-08	11	18					A	36147303	C	A	36147303	4	1	453	1	0	0	0	0	0	1	0	0	13013	922	32	4	3384	4	RALGAPA1	14	36147303	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	15644981	36147303	71202237	36	37936											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055540	72055540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcttgaagataaccgAtcagaagactctgtcaggcc	9	10	5	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:72055540A>G	ENST00000555818.1	+	2	1299	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SIPA1L1_ENST00000358550.2_Silent_p.R317R|SIPA1L1_ENST00000381232.3_Silent_p.R317R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	317					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)		AAGATAACCGATCAGAAGACT	0.413																																						ENST00000555818.1																			0				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						c.(949-951)cgA>cgG		signal-induced proliferation-associated 1 like 1							66	71	69					14																	72055540		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055540A>G	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.951A>G	14.37:g.72055540A>G						SIPA1L1_ENST00000358550.2_Silent_p.R317R|SIPA1L1_ENST00000381232.3_Silent_p.R317R	p.R317R	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1299	+			317					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.951A>G	CCDS9807.1																																																																																				0.413	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		18	59	0	0	0	1	0	18	59					G	72055540	A	G	72055540	2	3	453	1	0	0	0	0	0	0	0	1	14329	320	12	3		3	SIPA1L1	14	72055540	Silent	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	35908237	72055540	35294000	37	37937											
CKMT1A	548596	broad.mit.edu	37	chr15	43990947	43990947	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatatttctaatttggacCgactaggcaaatcagaggtg	10	6	2	2	rs150214356		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:43990947C>T	ENST00000413453.2	+	8	1644	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	374	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TAATTTGGACCGACTAGGCAA	0.502																																						ENST00000413453.2																			0				lung(4)	4						c.(1120-1122)Cga>Tga		creatine kinase, mitochondrial 1A	Creatine(DB00148)	C	stop/ARG	0,4398		0,0,2199	95	89	91		1120	3.9	1	15	dbSNP_134	91	1,8593	1.2+/-3.3	0,1,4296	no	stop-gained	CKMT1A	NM_001015001.1		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		374/418	43990947	1,12991	2199	4297	6496	SO:0001587	stop_gained	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43990947C>T	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1120C>T	15.37:g.43990947C>T	ENSP00000406577:p.Arg374*					CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*|STRC_ENST00000541030.1_Intron	p.R374*			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	8	1644	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	374			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Nonsense_Mutation	SNP	ENST00000413453.2	37	c.1120C>T	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	C	38	7.152126	0.98099	0.0	1.16E-4	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	.	.	.	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1461	15.9786	0.80089	0.0:1.0:0.0:0.0	.	.	.	.	X	405;374;374	.	ENSP00000406577:R374X	R	+	1	2	CKMT1A	41778239	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.698000	0.61789	1.728000	0.51552	0.502000	0.49764	CGA		0.502	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			19	64	0	0	0	1	0	19	64					T	43990947	C	T	43990947	4	4	453	1	0	0	0	0	0	1	0	0	3449	644	23	1	1150	1	CKMT1A	15	43990947	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		43990947	58540445	38	37938											
MYO5C	55930	broad.mit.edu	37	chr15	52532038	52532038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagccacgcccgtgcGtatttctgtaggatcacagc	11	14	2	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:52532038G>A	ENST00000261839.7	-	21	2756	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	865	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					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)		ACGCCCGTGCGTATTTCTGTA	0.453																																						ENST00000261839.7																			0				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						c.(2593-2595)taC>taT		myosin VC							60	59	60					15																	52532038		1958	4155	6113	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52532038G>A	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.2595C>T	15.37:g.52532038G>A						MYO5C_ENST00000443683.2_Intron	p.Y865Y	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	21	2756	-			865			IQ 5.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2595C>T	CCDS42036.1																																																																																				0.453	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		27	63	0	0	0	1	0	27	63					A	52532038	G	A	52532038	2	1	453	1	0	0	0	0	0	0	0	1	10080	1140	40	1		1	MYO5C	15	52532038	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	8541091	52532038	49999354	39	37939											
CCNF	899	broad.mit.edu	37	chr16	2498903	2498903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggccgtatggctcaCggacaacacttacaagtacg	12	12	1	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:2498903C>T	ENST00000397066.4	+	11	1230	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	381	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTATGGCTCACGGACAACACT	0.557																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1141-1143)aCg>aTg		cyclin F							101	96	98					16																	2498903		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2498903C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1142C>T	16.37:g.2498903C>T	ENSP00000380256:p.Thr381Met						p.T381M	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			11	1230	+		Ovarian(90;0.17)	381			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1142C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987551	0.74589	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.20200	2.09	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65520	-0.6148	10	0.87932	D	0	-15.1293	17.7372	0.88397	0.0:1.0:0.0:0.0	.	381	P41002	CCNF_HUMAN	M	381;296	ENSP00000380256:T381M	ENSP00000293968:T296M	T	+	2	0	CCNF	2438904	1.000000	0.71417	0.986000	0.45419	0.432000	0.31715	7.566000	0.82347	2.531000	0.85337	0.462000	0.41574	ACG		0.557	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		4	110	0	0	0	1	0	4	110					T	2498903	C	T	2498903	3	4	453	1	0	0	0	0	1	0	0	0	2922	536	19	1	1184	1	CCNF	16	2498903	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		2498903	87855850	40	37940											
CDYL2	124359	broad.mit.edu	37	chr16	80646694	80646694	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccattgatggccaccacGataggcttcttaaactggat	10	11	1	1	rs201151824		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:80646694G>A	ENST00000570137.2	-	5	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	CDYL2_ENST00000566173.1_Silent_p.I350I|CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	349						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGGCCACCACGATAGGCTTCT	0.567																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1045-1047)atC>atT		chromodomain protein, Y-like 2							68	66	66					16																	80646694		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80646694G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1047C>T	16.37:g.80646694G>A						CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I|CDYL2_ENST00000566173.1_Silent_p.I350I	p.I349I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			5	1202	-			349					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.1047C>T	CCDS32493.1																																																																																				0.567	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		15	54	0	0	0	1	0	15	54					A	80646694	G	A	80646694	2	1	453	1	0	0	0	0	0	0	0	1	3186	1048	37	1		1	CDYL2	16	80646694	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	78147791	80646694	9708059	41	37941											
ALOX12	239	broad.mit.edu	37	chr17	6913672	6913672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaggagattacagcccGgaatgagcaacttgactggc	13	8	0	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:6913672G>A	ENST00000251535.6	+	14	1975	c.1922G>A	c.(1921-1923)cGg>cAg	p.R641Q	RNASEK_ENST00000552321.1_5'Flank|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|RNASEK_ENST00000402093.1_5'Flank|AC027763.2_ENST00000575727.1_Intron|RNASEK_ENST00000548577.1_5'Flank|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	641	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATTACAGCCCGGAATGAGCAA	0.473																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1921-1923)cGg>cAg		arachidonate 12-lipoxygenase							77	80	79					17																	6913672		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6913672G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1922G>A	17.37:g.6913672G>A	ENSP00000251535:p.Arg641Gln					AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron	p.R641Q	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			14	1975	+			641			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.1922G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000336	0.54147	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	T	0.81078	-1.45	4.86	4.86	0.63082	Lipoxygenase, C-terminal (3);	0.075147	0.56097	D	0.000034	D	0.83330	0.5231	M	0.86028	2.79	0.37255	D	0.906733	D	0.58268	0.982	B	0.43445	0.42	D	0.88974	0.3403	10	0.62326	D	0.03	-3.1857	15.5355	0.75998	0.0:0.0:1.0:0.0	.	641	P18054	LOX12_HUMAN	Q	641;111	ENSP00000251535:R641Q	ENSP00000251535:R641Q	R	+	2	0	ALOX12	6854396	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.257000	0.58816	2.540000	0.85666	0.460000	0.39030	CGG		0.473	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			9	64	0	0	0	1	0	9	64					A	6913672	G	A	6913672	3	1	453	1	0	0	0	0	1	0	0	0	536	1116	39	1	1976	1	ALOX12	17	6913672	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		6913672	74281538	42	37942											
KRT15	3866	broad.mit.edu	37	chr17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcctcaacgccctggcGcagggccagctcattctcat	10	16	4	0	rs201818657		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:39673194G>A	ENST00000254043.3	-	3	4189	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(604-606)Cgc>Tgc		keratin 15		G	CYS/ARG	0,4406		0,0,2203	72	74	73		604	4.9	1	17		73	1,8599		0,1,4299	yes	missense	KRT15	NM_002275.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	202/457	39673194	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673194G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.604C>T	17.37:g.39673194G>A	ENSP00000254043:p.Arg202Cys					KRT15_ENST00000393974.3_Missense_Mutation_p.R37C|KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C	p.R202C	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4189	-		Breast(137;0.000286)	202			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.604C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250801	0.59212	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	4.86	4.86	0.63082	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95526	0.8546	M	0.78916	2.43	0.80722	D	1	D;P;D	0.89917	1.0;0.928;0.989	D;P;P	0.87578	0.998;0.632;0.808	D	0.95614	0.8675	10	0.72032	D	0.01	.	13.1878	0.59691	0.0:0.0:0.8407:0.1593	.	37;202;202	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	C	202;37;202;37;37	ENSP00000254043:R202C;ENSP00000377544:R37C;ENSP00000377546:R202C;ENSP00000377550:R37C;ENSP00000409282:R37C	ENSP00000254043:R202C	R	-	1	0	KRT15	36926720	0.998000	0.40836	1.000000	0.80357	0.351000	0.29236	4.362000	0.59467	2.514000	0.84764	0.650000	0.86243	CGC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		23	80	0	0	0	1	0	23	80					A	39673194	G	A	39673194	3	1	453	1	0	0	0	0	1	0	0	0	8452	1087	38	1	790	1	KRT15	17	39673194	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	32759522	39673194	41522016	43	37943											
CD300C	10871	broad.mit.edu	37	chr17	72541027	72541027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatagcgacactgcaCactcagggatccccccacgg	8	17	2	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:72541027C>T	ENST00000330793.1	-	2	481	c.121G>A	c.(121-123)Gtg>Atg	p.V41M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	41	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CGACACTGCACACTCAGGGAT	0.537																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(121-123)Gtg>Atg		CD300c molecule							73	69	71					17																	72541027		2203	4300	6503	SO:0001583	missense	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541027C>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.121G>A	17.37:g.72541027C>T	ENSP00000329507:p.Val41Met						p.V41M	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			2	481	-			41			Ig-like V-type.			Missense_Mutation	SNP	ENST00000330793.1	37	c.121G>A	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875992	0.51695	.	.	ENSG00000167850	ENST00000330793	T	0.64991	-0.13	4.33	1.16	0.20824	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168842	0.27406	N	0.019505	T	0.75576	0.3868	M	0.86805	2.84	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.63093	-0.6714	10	0.87932	D	0	.	3.9013	0.09162	0.0:0.577:0.2028:0.2202	.	41	Q08708	CLM6_HUMAN	M	41	ENSP00000329507:V41M	ENSP00000329507:V41M	V	-	1	0	CD300C	70052622	0.000000	0.05858	0.021000	0.16686	0.084000	0.17831	0.030000	0.13688	0.522000	0.28464	0.556000	0.70494	GTG		0.537	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		22	75	0	0	0	1	0	22	75					T	72541027	C	T	72541027	3	4	453	1	0	0	0	0	1	0	0	0	2997	478	17	2	565	2	CD300C	17	72541027	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	32867833	72541027	8654183	44	37944											
ANKRD30B	374860	broad.mit.edu	37	chr18	14791432	14791432	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acggtttcacagaaggatgtGtatttacccaaagctacaca	8	9	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr18:14791432G>C	ENST00000358984.4	+	16	1947	c.1767G>C	c.(1765-1767)gtG>gtC	p.V589V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.V589V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	589										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAGGATGTGTATTTACCCA	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1765-1767)gtG>gtC		ankyrin repeat domain 30B							81	62	68					18																	14791432		692	1583	2275	SO:0001819	synonymous_variant	374860							g.chr18:14791432G>C	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.1767G>C	18.37:g.14791432G>C						ANKRD30B_ENST00000447268.2_Silent_p.V589V|ANKRD30B_ENST00000579292.1_Intron	p.V589V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			16	1947	+			589					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.1767G>C	CCDS54182.1																																																																																				0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		16	50	0	0	0	1	0	16	50					C	14791432	G	C	14791432	2	2	453	1	0	0	0	0	0	0	0	1	659	1364	48	4		4	ANKRD30B	18	14791432	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		14791432	63285816	45	37945											
RRBP1	6238	broad.mit.edu	37	chr20	17602584	17602584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagacagagctgcttctcCgattcctcctggggggtggg	14	11	2	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr20:17602584C>T	ENST00000377813.1	-	14	3459	c.3156G>A	c.(3154-3156)tcG>tcA	p.S1052S	RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000377807.2_Silent_p.S619S|RRBP1_ENST00000455029.2_Silent_p.S393S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1052					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCTGCTTCTCCGATTCCTCCT	0.617																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(3154-3156)tcG>tcA		ribosome binding protein 1							53	59	57					20																	17602584		2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17602584C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3156G>A	20.37:g.17602584C>T						RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000455029.2_Silent_p.S393S|RRBP1_ENST00000377807.2_Silent_p.S619S	p.S1052S			Q9P2E9	RRBP1_HUMAN			14	3459	-			1052					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.3156G>A																																																																																					0.617	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		5	58	0	0	0	1	0	5	58					T	17602584	C	T	17602584	2	4	453	1	0	0	0	0	0	0	0	1	13678	639	23	1		1	RRBP1	20	17602584	Silent	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		17602584	45422936	46	37946											
RIPK4	54101	broad.mit.edu	37	chr21	43161239	43161239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagccaggtgcagcgccGtctggttcaggggtccccgg	17	14	2	0	rs200764815	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr21:43161239G>A	ENST00000352483.2	-	9	2322	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	753					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						GTGCAGCGCCGTCTGGTTCAG	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		16871	0.002		0.0	False		,,,				2504	0.0					ENST00000352483.2																			0				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						c.(2257-2259)aCg>aTg		receptor-interacting serine-threonine kinase 4							57	64	62					21																	43161239		2203	4298	6501	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161239G>A	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.2258C>T	21.37:g.43161239G>A	ENSP00000330161:p.Thr753Met					RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M	p.T753M			Q96T11	Q96T11_HUMAN			9	2322	-			705					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2258C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.57	3.160902	0.57368	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.61	4.61	0.57282	.	0.000000	0.53938	D	0.000046	T	0.64472	0.2601	M	0.91038	3.17	0.50313	D	0.999866	D	0.89917	1.0	D	0.91635	0.999	T	0.75082	-0.3443	10	0.87932	D	0	-23.1258	16.4999	0.84254	0.0:0.0:1.0:0.0	.	705	P57078-2	.	M	705;753;642;642	ENSP00000332454:T705M;ENSP00000330161:T753M;ENSP00000441754:T642M;ENSP00000442901:T642M	ENSP00000332454:T705M	T	-	2	0	RIPK4	42034308	1.000000	0.71417	0.995000	0.50966	0.585000	0.36419	7.283000	0.78640	2.116000	0.64780	0.650000	0.86243	ACG		0.677	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		8	126	0	0	0	1	0	8	126					A	43161239	G	A	43161239	3	1	453	1	0	0	0	0	1	0	0	0	13383	1145	40	1	244	1	RIPK4	21	43161239	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		43161239	4968656	47	37947											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688392	30688392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggtgtcctcactctcttggGacgtcaagctctcctgggag	12	12	4	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr22:30688392G>C	ENST00000215790.7	-	9	1663	c.1499C>G	c.(1498-1500)tCc>tGc	p.S500C	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|GATSL3_ENST00000407689.3_5'Flank|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C|RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_5'Flank	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	500					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ACTCTCTTGGGACGTCAAGCT	0.592																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1498-1500)tCc>tGc		TBC1 domain family, member 10A							108	119	115					22																	30688392		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688392G>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1499C>G	22.37:g.30688392G>C	ENSP00000215790:p.Ser500Cys					TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C|RP1-130H16.18_ENST00000447976.1_Intron	p.S500C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1663	-			500					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1499C>G	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951148	0.73787	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.11169	2.8;2.83;2.87	5.12	5.12	0.69794	.	0.161766	0.43747	D	0.000534	T	0.28566	0.0707	L	0.54323	1.7	0.53688	D	0.999971	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65573	0.936;0.936;0.936	T	0.00677	-1.1614	10	0.87932	D	0	.	17.5052	0.87743	0.0:0.0:1.0:0.0	.	500;507;500	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	C	500;507;412	ENSP00000215790:S500C;ENSP00000384996:S507C;ENSP00000385050:S412C	ENSP00000215790:S500C	S	-	2	0	TBC1D10A	29018392	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	7.339000	0.79282	2.569000	0.86673	0.561000	0.74099	TCC		0.592	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		55	144	0	0	0	1	0	55	144					C	30688392	G	C	30688392	3	2	453	1	0	0	0	0	1	0	0	0	15595	1174	41	4	31	4	TBC1D10A	22	30688392	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		30688392	20616174	48	37948											
FAM47C	442444	broad.mit.edu	37	chrX	37029461	37029461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaagcaagggctatgaaaTgcctggcatcattcaaaggc	10	9	3	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:37029461T>C	ENST00000358047.3	+	1	3030	c.2978T>C	c.(2977-2979)aTg>aCg	p.M993T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	993										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						GGCTATGAAATGCCTGGCATC	0.438																																						ENST00000358047.3																			0				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						c.(2977-2979)aTg>aCg		family with sequence similarity 47, member C							131	122	125					X																	37029461		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029461T>C	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.2978T>C	X.37:g.37029461T>C	ENSP00000367913:p.Met993Thr						p.M993T	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	3030	+			993					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2978T>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	T	9.242	1.038567	0.19669	.	.	ENSG00000198173	ENST00000358047	T	0.16597	2.33	0.502	0.502	0.16932	.	.	.	.	.	T	0.36690	0.0976	M	0.77313	2.365	0.09310	N	1	D	0.62365	0.991	D	0.69479	0.964	T	0.08534	-1.0717	8	0.62326	D	0.03	.	.	.	.	.	993	Q5HY64	FA47C_HUMAN	T	993	ENSP00000367913:M993T	ENSP00000367913:M993T	M	+	2	0	FAM47C	36939382	0.050000	0.20438	0.023000	0.16930	0.086000	0.17979	0.649000	0.24843	0.400000	0.25396	0.242000	0.17961	ATG		0.438	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		40	62	0	0	0	1	0	40	62					C	37029461	T	C	37029461	3	2	453	1	0	0	0	0	1	0	0	0	5571	1464	51	3	2980	3	FAM47C	23	37029461	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08		37029461	118241099	49	37949											
DOCK11	139818	broad.mit.edu	37	chrX	117739300	117739300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgacccatgaagatgacGttcctatcaactgcaccatg	7	11	1	4			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:117739300G>A	ENST00000276202.7	+	24	2725	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I	DOCK11_ENST00000276204.6_Missense_Mutation_p.V888I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	888					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V888I(1)		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						TGAAGATGACGTTCCTATCAA	0.348																																						ENST00000276204.6																			1	Substitution - Missense(1)	p.V888I(1)	large_intestine(1)	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						c.(2662-2664)Gtt>Att		dedicator of cytokinesis 11							139	121	127					X																	117739300		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117739300G>A	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.2662G>A	X.37:g.117739300G>A	ENSP00000276202:p.Val888Ile					DOCK11_ENST00000276202.7_Missense_Mutation_p.V888I	p.V888I			Q5JSL3	DOC11_HUMAN			24	2736	+			888					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2662G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535761	0.27475	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.69806	-0.43;-0.43	5.43	5.43	0.79202	.	0.119735	0.56097	D	0.000022	T	0.47358	0.1441	N	0.25060	0.705	0.47374	D	0.999409	P;P	0.40266	0.71;0.71	B;B	0.28385	0.089;0.089	T	0.49643	-0.8918	10	0.13470	T	0.59	-7.932	17.4229	0.87519	0.0:0.0:1.0:0.0	.	888;888	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	888	ENSP00000276204:V888I;ENSP00000276202:V888I	ENSP00000276202:V888I	V	+	1	0	DOCK11	117623328	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.283000	0.58977	2.415000	0.81967	0.600000	0.82982	GTT		0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		54	43	0	0	0	1	0	54	43					A	117739300	G	A	117739300	3	1	453	1	0	0	0	0	1	0	0	0	4686	1145	40	1	2756	1	DOCK11	23	117739300	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	80709839	117739300	37531260	50	37950											
LEPR	3953	broad.mit.edu	37	chr1	66102486	66102486	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagtggtgtgcttttgactGacaagtcaagggtatcgtgc	14	6	1	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:66102486G>A	ENST00000349533.6	+	20	3471	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	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)		GCTTTTGACTGACAAGTCAAG	0.403																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3286-3288)Gac>Aac		leptin receptor							72	71	71					1																	66102486		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102486G>A	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.3286G>A	1.37:g.66102486G>A	ENSP00000330393:p.Asp1096Asn					LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	p.D1096N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3471	+			1096					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3286G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770563	0.15983	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55234	0.53	5.49	3.37	0.38596	.	1.109400	0.06650	N	0.762514	T	0.22936	0.0554	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30563	-0.9974	10	0.30854	T	0.27	-0.4236	10.2822	0.43545	0.1831:0.0:0.8169:0.0	.	1096	P48357	LEPR_HUMAN	N	1096;163	ENSP00000330393:D1096N	ENSP00000330393:D1096N	D	+	1	0	LEPR	65875074	0.541000	0.26417	0.001000	0.08648	0.001000	0.01503	2.995000	0.49441	0.501000	0.28013	0.585000	0.79938	GAC		0.403	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	111	0	0	0	1	0	4	111					A	66102486	G	A	66102486	3	1	454	1	0	0	0	0	1	0	0	0	8728	1290	45	2	3586	2	LEPR	1	66102486	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		66102486	183148135	1	37951											
PLXNA2	5362	broad.mit.edu	37	chr1	208390748	208390748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatcctcaccctcagagcGcacaatcaccccgtacatgg	7	18	3	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:208390748G>A	ENST00000367033.3	-	2	1277	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	174	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)	p.R174C(1)		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)		CCCTCAGAGCGCACAATCACC	0.602																																						ENST00000367033.3																			1	Substitution - Missense(1)	p.R174C(1)	kidney(1)	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						c.(520-522)Cgc>Tgc		plexin A2							158	159	159					1																	208390748		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390748G>A	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.520C>T	1.37:g.208390748G>A	ENSP00000356000:p.Arg174Cys						p.R174C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1277	-			174			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.520C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696120	0.48202	.	.	ENSG00000076356	ENST00000367033	T	0.11712	2.75	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.139948	0.50627	D	0.000113	T	0.14399	0.0348	N	0.14661	0.345	0.58432	D	0.999999	B;D	0.71674	0.234;0.998	B;P	0.56088	0.057;0.791	T	0.02925	-1.1093	10	0.59425	D	0.04	.	15.3456	0.74334	0.0:0.1391:0.8609:0.0	.	228;174	O75051-2;O75051	.;PLXA2_HUMAN	C	174	ENSP00000356000:R174C	ENSP00000356000:R174C	R	-	1	0	PLXNA2	206457371	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.537000	0.82033	2.697000	0.92050	0.563000	0.77884	CGC		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	311	0	0	0	1	0	6	311					A	208390748	G	A	208390748	3	1	454	1	0	0	0	0	1	0	0	0	12120	1087	38	1	5288	1	PLXNA2	1	208390748	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	142288262	208390748	40859873	2	37952											
CABC1	56997	broad.mit.edu	37	chr1	227152916	227152916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagagaagccgggttcccCggccaggcctcctcccctct	10	17	1	1	rs370659820		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:227152916C>T	ENST00000366779.1	+	8	3164	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Silent_p.P79P|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Silent_p.P131P			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	131					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCGGGTTCCCCGGCCAGGCCT	0.652																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(391-393)ccC>ccT		aarF domain containing kinase 3		C		1,4405		0,1,2202	26	30	29		393	-10.8	0	1		29	0,8600		0,0,4300	no	coding-synonymous	ADCK3	NM_020247.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		131/648	227152916	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152916C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.393C>T	1.37:g.227152916C>T						ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Silent_p.P79P|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366777.3_Silent_p.P131P|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Silent_p.P56P	p.P131P			Q8NI60	ADCK3_HUMAN			8	3164	+			131					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.393C>T	CCDS1557.1																																																																																				0.652	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		16	26	0	0	0	1	0	16	26					T	227152916	C	T	227152916	2	4	454	1	0	0	0	0	0	0	0	1	2527	639	23	1		1	CABC1	1	227152916	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	18762168	227152916	22097705	3	37953											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg					rs372045862		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						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(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45	47	46					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		8	155						8	155	---	---	---	---	-	248437112	T	-	248437112	7	5	454	1	0	1	0	1	0	0	0	0	11024	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-S9-A7R3-01A-11D-A34J-08	21284196	248437112	813509	4	37954											
HTRA2	27429	broad.mit.edu	37	chr2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtggtggctgatcggcGcagagtccgtgtgagactgc	16	10	0	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				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						GCTGATCGGCGCAGAGTCCGT	0.602																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(610-612)cGc>cAc		HtrA serine peptidase 2							59	61	61					2																	74757848		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757848G>A		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.611G>A	2.37:g.74757848G>A	ENSP00000258080:p.Arg204His					HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR	p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			2	1241	+			204			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.611G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702439	0.68501	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.88586	-2.4;-2.4;-2.4	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.109678	0.64402	D	0.000009	D	0.88570	0.6472	L	0.27975	0.815	0.27912	N	0.938579	D;D;D;D	0.89917	0.985;1.0;0.999;0.985	P;D;D;P	0.70016	0.607;0.967;0.956;0.607	T	0.80852	-0.1197	10	0.35671	T	0.21	-7.3943	9.1348	0.36868	0.0967:0.0:0.9033:0.0	.	204;204;204;204	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	H	204;204;191	ENSP00000258080:R204H;ENSP00000312893:R204H;ENSP00000399166:R191H	ENSP00000258080:R204H	R	+	2	0	HTRA2	74611356	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.584000	0.87258	0.462000	0.41574	CGC		0.602	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		4	113	0	0	0	1	0	4	113					A	74757848	G	A	74757848	3	1	454	1	0	0	0	0	1	0	0	0	7454	1087	38	1	617	1	HTRA2	2	74757848	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		74757848	168441525	5	37955											
MERTK	10461	broad.mit.edu	37	chr2	112777033	112777033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcatggtggatattgCcctgggaatggagtatctga	14	5	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:112777033C>T	ENST00000295408.4	+	16	2380	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	MERTK_ENST00000409780.1_Missense_Mutation_p.A532V|MERTK_ENST00000421804.2_Missense_Mutation_p.A708V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGATATTGCCCTGGGAATG	0.413																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2122-2124)gCc>gTc		c-mer proto-oncogene tyrosine kinase							172	173	173					2																	112777033		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112777033C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2123C>T	2.37:g.112777033C>T	ENSP00000295408:p.Ala708Val					MERTK_ENST00000421804.2_Missense_Mutation_p.A708V|MERTK_ENST00000409780.1_Missense_Mutation_p.A532V	p.A708V			Q12866	MERTK_HUMAN			16	2380	+			708		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation).	Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2123C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487976	0.96323	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33346	U	0.005014	D	0.95595	0.8568	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95951	0.8954	10	0.87932	D	0	-25.8301	19.5203	0.95182	0.0:1.0:0.0:0.0	.	708	Q12866	MERTK_HUMAN	V	708;708;344;532;15	ENSP00000295408:A708V;ENSP00000389152:A708V;ENSP00000387277:A532V;ENSP00000412660:A15V	ENSP00000295408:A708V	A	+	2	0	MERTK	112493504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.731000	0.84895	2.678000	0.91216	0.655000	0.94253	GCC		0.413	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			5	285	0	0	0	1	0	5	285					T	112777033	C	T	112777033	3	4	454	1	0	0	0	0	1	0	0	0	9479	739	26	2	2185	2	MERTK	2	112777033	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	38019185	112777033	130422340	6	37956											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	81	0	0	0	1	0	60	81					T	209113112	C	T	209113112	3	4	454	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	96336079	209113112	34086261	7	37957											
SCN10A	6336	broad.mit.edu	37	chr3	38748793	38748793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtgggatgggcttctGgggcttcttggagcccaact	17	10	2	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr3:38748793G>T	ENST00000449082.2	-	25	4362	c.4363C>A	c.(4363-4365)Cag>Aag	p.Q1455K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1455					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGGGCTTCTGGGGCTTCTTG	0.557																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4363-4365)Cag>Aag		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						119	129	125					3																	38748793		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38748793G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4363C>A	3.37:g.38748793G>T	ENSP00000390600:p.Gln1455Lys						p.Q1455K	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4362	-			1455					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4363C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952992	0.92660	.	.	ENSG00000185313	ENST00000449082	D	0.95622	-3.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97365	0.9138	M	0.73217	2.22	0.48087	D	0.999586	D	0.64830	0.994	D	0.70227	0.968	D	0.97370	0.9975	10	0.54805	T	0.06	.	18.8473	0.92212	0.0:0.0:1.0:0.0	.	1455	Q9Y5Y9	SCNAA_HUMAN	K	1455	ENSP00000390600:Q1455K	ENSP00000390600:Q1455K	Q	-	1	0	SCN10A	38723797	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.601000	0.82783	2.694000	0.91930	0.655000	0.94253	CAG		0.557	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		16	60	1	0	8.00594e-06	1	8.27733e-06	16	60					T	38748793	G	T	38748793	3	4	454	1	0	0	0	0	1	0	0	0	13912	1357	47	4	1519	4	SCN10A	3	38748793	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		38748793	159273637	8	37958											
NDST4	64579	broad.mit.edu	37	chr4	115898356	115898356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttacctgtgtggtaaaaCttccctgaaaatccaaggtt	7	9	1	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:115898356C>G	ENST00000264363.2	-	3	1731	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	351	Heparan sulfate N-deacetylase 4.				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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGGTAAAACTTCCCTGAAA	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1051-1053)aaG>aaC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							92	97	95					4																	115898356		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115898356C>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1053G>C	4.37:g.115898356C>G	ENSP00000264363:p.Lys351Asn						p.K351N	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	3	1731	-		Ovarian(17;0.156)	351			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1053G>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702486	0.68501	.	.	ENSG00000138653	ENST00000264363	T	0.40476	1.03	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.90759	3.145	0.53688	D	0.99997	D	0.60575	0.988	D	0.71656	0.974	T	0.73248	-0.4043	10	0.72032	D	0.01	.	10.2831	0.43552	0.0:0.8501:0.0:0.1499	.	351	Q9H3R1	NDST4_HUMAN	N	351	ENSP00000264363:K351N	ENSP00000264363:K351N	K	-	3	2	NDST4	116117805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.532000	0.45659	2.783000	0.95769	0.655000	0.94253	AAG		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		78	141	0	0	0	1	0	78	141					G	115898356	C	G	115898356	3	3	454	1	0	0	0	0	1	0	0	0	10258	564	20	4	1613	4	NDST4	4	115898356	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08		115898356	75255920	9	37959											
FGA	2243	broad.mit.edu	37	chr4	155508066	155508066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggatcttaatatcaatgTccacctagagagaggggaga	11	7	2	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:155508066T>C	ENST00000302053.3	-	5	593	c.515A>G	c.(514-516)gAc>gGc	p.D172G	FGA_ENST00000403106.3_Missense_Mutation_p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	172					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AATATCAATGTCCACCTAGAG	0.388																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(514-516)gAc>gGc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						64	65	65					4																	155508066		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508066T>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.515A>G	4.37:g.155508066T>C	ENSP00000306361:p.Asp172Gly					FGA_ENST00000403106.3_Missense_Mutation_p.D172G	p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	593	-	all_hematologic(180;0.215)	Renal(120;0.0458)	172					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.515A>G	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791386	0.70452	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.87179	-2.22;-2.22	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.044570	0.85682	N	0.000000	D	0.93546	0.7940	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94058	0.7324	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172	P02671-2;P02671	.;FIBA_HUMAN	G	172	ENSP00000306361:D172G;ENSP00000385981:D172G	ENSP00000306361:D172G	D	-	2	0	FGA	155727516	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	6.506000	0.73712	2.371000	0.80710	0.533000	0.62120	GAC		0.388	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		31	62	0	0	0	1	0	31	62					C	155508066	T	C	155508066	3	2	454	1	0	0	0	0	1	0	0	0	5830	1667	58	3	2137	3	FGA	4	155508066	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08	39609710	155508066	35646210	10	37960											
FCHO2	115548	broad.mit.edu	37	chr5	72383519	72383519	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtaccctttcaggagtAgatttcgaacttgtgggcac	12	8	1	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr5:72383519A>G	ENST00000430046.2	+	25	2465	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	FCHO2_ENST00000512348.1_Silent_p.V750V|FCHO2_ENST00000341845.6_Silent_p.V783V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	783	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTTCAGGAGTAGATTTCGAAC	0.438																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(2347-2349)gtA>gtG		FCH domain only 2							127	124	125					5																	72383519		1844	4085	5929	SO:0001819	synonymous_variant	115548							g.chr5:72383519A>G	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2349A>G	5.37:g.72383519A>G						FCHO2_ENST00000512348.1_Silent_p.V750V|FCHO2_ENST00000341845.6_Silent_p.V783V	p.V783V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	25	2465	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	783					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.2349A>G	CCDS47230.1																																																																																				0.438	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		43	124	0	0	0	1	0	43	124					G	72383519	A	G	72383519	2	3	454	1	0	0	0	0	0	0	0	1	5788	407	15	3		3	FCHO2	5	72383519	Silent	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		72383519	108531741	11	37961											
DCBLD1	285761	broad.mit.edu	37	chr6	117861894	117861894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcatccctcccatcgtgGccagatatgtgcgggttgtc	10	12	1	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:117861894G>A	ENST00000338728.5	+	10	1285	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	389	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCCCATCGTGGCCAGATATGT	0.473																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1165-1167)Gcc>Acc		discoidin, CUB and LCCL domain containing 1							140	140	140					6																	117861894		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117861894G>A	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1165G>A	6.37:g.117861894G>A	ENSP00000342422:p.Ala389Thr					DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|DCBLD1_ENST00000368503.4_Intron	p.A389T			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	10	1285	+		all_cancers(87;0.171)	389			F5/8 type C.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.1165G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.575632	0.86645	.	.	ENSG00000164465	ENST00000296955;ENST00000392504;ENST00000338728	D;D	0.99719	-6.52;-6.52	4.54	4.54	0.55810	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.062950	0.64402	D	0.000008	D	0.99339	0.9768	L	0.41415	1.275	0.80722	D	1	D;D	0.89917	0.964;1.0	D;D	0.83275	0.922;0.996	D	0.99517	1.0957	10	0.27785	T	0.31	-18.0331	17.4823	0.87675	0.0:0.0:1.0:0.0	.	389;389	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	T	389;44;389	ENSP00000296955:A389T;ENSP00000342422:A389T	ENSP00000296955:A389T	A	+	1	0	DCBLD1	117968587	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	6.265000	0.72534	2.364000	0.80123	0.561000	0.74099	GCC		0.473	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		38	117	0	0	0	1	0	38	117					A	117861894	G	A	117861894	3	1	454	1	0	0	0	0	1	0	0	0	4280	1203	42	2	1203	2	DCBLD1	6	117861894	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		117861894	53253173	12	37962											
CNKSR3	154043	broad.mit.edu	37	chr6	154743663	154743663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaagaggtggcttccaccGtaggtttttcaggggagcag	14	8	1	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:154743663G>A	ENST00000607772.1	-	9	1466	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	308					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)		GGCTTCCACCGTAGGTTTTTC	0.443																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(922-924)Cgg>Tgg		CNKSR family member 3							125	134	131					6																	154743663		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154743663G>A	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.922C>T	6.37:g.154743663G>A	ENSP00000475915:p.Arg308Trp					CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W	p.R308W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	9	1466	-		Ovarian(120;0.196)	308					Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.922C>T	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220598	0.39201	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.54866	1.22;0.61;0.62;0.55	5.66	3.76	0.43208	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	L	0.55990	1.75	0.39387	D	0.966352	D	0.89917	1.0	D	0.91635	0.999	T	0.65730	-0.6097	10	0.87932	D	0	.	13.8647	0.63581	0.0:0.0:0.5291:0.4709	.	308	Q6P9H4	CNKR3_HUMAN	W	83;308;133;228;70;133	ENSP00000356182:R308W;ENSP00000414185:R133W;ENSP00000418975:R228W;ENSP00000406740:R133W	ENSP00000356178:R83W	R	-	1	2	CNKSR3	154785355	1.000000	0.71417	0.320000	0.25306	0.016000	0.09150	2.966000	0.49208	1.357000	0.45904	0.655000	0.94253	CGG		0.443	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		5	177	0	0	0	1	0	5	177					A	154743663	G	A	154743663	3	1	454	1	0	0	0	0	1	0	0	0	3608	1144	40	1	765	1	CNKSR3	6	154743663	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	36881769	154743663	16371404	13	37963											
IFNA21	3452	broad.mit.edu	37	chr9	21166307	21166307	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttttctaggaggctcTgttcccaagtagcagatgag	10	7	2	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:21166307T>C	ENST00000380225.1	-	1	352	c.305A>G	c.(304-306)cAg>cGg	p.Q102R		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	102					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)		TAGGAGGCTCTGTTCCCAAGT	0.498																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(304-306)cAg>cGg		interferon, alpha 21							131	136	134					9																	21166307		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166307T>C		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.305A>G	9.37:g.21166307T>C	ENSP00000369574:p.Gln102Arg						p.Q102R	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	352	-			102					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.305A>G	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	8.192	0.796304	0.16327	.	.	ENSG00000137080	ENST00000380225	T	0.05513	3.43	4.02	-1.47	0.08772	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.201640	0.05752	N	0.603402	T	0.06142	0.0159	L	0.29908	0.895	0.09310	N	1	B	0.19935	0.04	B	0.29440	0.102	T	0.47509	-0.9112	10	0.37606	T	0.19	.	6.8732	0.24133	0.147:0.0:0.4835:0.3696	.	102	P01568	IFN21_HUMAN	R	102	ENSP00000369574:Q102R	ENSP00000369574:Q102R	Q	-	2	0	IFNA21	21156307	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.559000	0.05971	-0.477000	0.06832	0.524000	0.50904	CAG		0.498	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		46	180	0	0	0	1	0	46	180					C	21166307	T	C	21166307	3	2	454	1	0	0	0	0	1	0	0	0	7538	1580	55	3	268	3	IFNA21	9	21166307	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08		21166307	120047124	14	37964											
TDRD7	23424	broad.mit.edu	37	chr9	100190781	100190781	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggtttcaaagatgctaCgagctgttctgcagtctcat	9	9	4	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:100190781C>T	ENST00000355295.4	+	2	329	c.34C>T	c.(34-36)Cga>Tga	p.R12*	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	12	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAGATGCTACGAGCTGTTCT	0.438																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(34-36)Cga>Tga		tudor domain containing 7							100	96	97					9																	100190781		2203	4300	6503	SO:0001587	stop_gained	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100190781C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.34C>T	9.37:g.100190781C>T	ENSP00000347444:p.Arg12*					TDRD7_ENST00000422139.2_Intron	p.R12*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			2	329	+		Acute lymphoblastic leukemia(62;0.158)	12			Lotus/OST-HTH 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Nonsense_Mutation	SNP	ENST00000355295.4	37	c.34C>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	38	7.157886	0.98103	.	.	ENSG00000196116	ENST00000355295	.	.	.	4.75	3.84	0.44239	.	0.062607	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5378	12.9444	0.58364	0.1632:0.8368:0.0:0.0	.	.	.	.	X	12	.	ENSP00000347444:R12X	R	+	1	2	TDRD7	99230602	0.984000	0.35163	0.985000	0.45067	0.989000	0.77384	2.661000	0.46758	1.277000	0.44412	0.591000	0.81541	CGA		0.438	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		32	61	0	0	0	1	0	32	61					T	100190781	C	T	100190781	4	4	454	1	0	0	0	0	0	1	0	0	15732	528	19	1	36	1	TDRD7	9	100190781	Nonsense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	79024474	100190781	41022650	15	37965											
MRPL50	54534	broad.mit.edu	37	chr9	104152867	104152867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacatctctaaccctgcacaTctggtggagtctggagttag	10	10	3	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:104152867T>C	ENST00000374865.4	-	2	379	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	120						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ACCCTGCACATCTGGTGGAGT	0.423																																						ENST00000374865.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(358-360)Atg>Gtg		mitochondrial ribosomal protein L50							94	90	91					9																	104152867		2203	4298	6501	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104152867T>C	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"Mitochondrial ribosomal proteins / large subunits"	16654	protein-coding gene	gene with protein product	"mitochondrial 39S ribosomal protein L50"	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.358A>G	9.37:g.104152867T>C	ENSP00000363999:p.Met120Val					MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN			2	379	-		Acute lymphoblastic leukemia(62;0.0559)	120					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.358A>G	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695081	0.48202	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T;T	0.39406	1.08;1.08	5.9	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	M	0.64404	1.975	0.34501	D	0.706055	P;P	0.50369	0.934;0.659	P;B	0.54238	0.746;0.284	T	0.64132	-0.6479	10	0.40728	T	0.16	-11.2496	10.9103	0.47106	0.0:0.0:0.1686:0.8314	.	120;120	B7Z358;Q8N5N7	.;RM50_HUMAN	V	120	ENSP00000363999:M120V;ENSP00000443844:M120V	ENSP00000363999:M120V	M	-	1	0	MRPL50	103192688	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.567000	0.45956	1.053000	0.40415	0.460000	0.39030	ATG		0.423	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		49	111	0	0	0	1	0	49	111					C	104152867	T	C	104152867	3	2	454	1	0	0	0	0	1	0	0	0	9814	1435	50	3	122	3	MRPL50	9	104152867	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08	3962086	104152867	37060564	16	37966											
SPTAN1	6709	broad.mit.edu	37	chr9	131353798	131353798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatcgtcagggttttgtgCcggctgcgtacgtgaagaaa	14	8	1	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:131353798C>T	ENST00000372731.4	+	22	3159	c.3049C>T	c.(3049-3051)Ccg>Tcg	p.P1017S	SPTAN1_ENST00000372739.3_Missense_Mutation_p.P1017S|SPTAN1_ENST00000358161.5_Missense_Mutation_p.P1017S	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		P -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)	p.P1017S(1)		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						GGGTTTTGTGCCGGCTGCGTA	0.522																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			1	Substitution - Missense(1)	p.P1017S(1)	breast(1)	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						c.(3049-3051)Ccg>Tcg		spectrin, alpha, non-erythrocytic 1							143	139	141					9																	131353798		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131353798C>T	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.3049C>T	9.37:g.131353798C>T	ENSP00000361816:p.Pro1017Ser					SPTAN1_ENST00000372731.4_Missense_Mutation_p.P1017S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.P1017S	p.P1017S			Q13813	SPTA2_HUMAN			22	3162	+			1017		P -> S (in a breast cancer sample; somatic mutation).	SH3.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3049C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852999	0.71719	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	D;D;D	0.90504	-2.68;-2.68;-2.68	5.9	5.9	0.94986	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.000000	0.85682	D	0.000000	D	0.97002	0.9021	H	0.95780	3.72	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.996;0.997	D;D;D;D;D	0.91635	0.992;0.992;0.999;0.986;0.992	D	0.97039	0.9756	10	0.52906	T	0.07	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	1017;1017;1017;1017;1017	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	S	1017	ENSP00000350882:P1017S;ENSP00000361816:P1017S;ENSP00000361824:P1017S	ENSP00000350882:P1017S	P	+	1	0	SPTAN1	130393619	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.298000	0.78815	2.798000	0.96311	0.650000	0.86243	CCG		0.522	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		5	231	0	0	0	1	0	5	231					T	131353798	C	T	131353798	3	4	454	1	0	0	0	0	1	0	0	0	15116	739	26	2	3131	2	SPTAN1	9	131353798	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	27200931	131353798	9859633	17	37967											
PDCD11	22984	broad.mit.edu	37	chr10	105178345	105178345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattggctccaggcaggtgAcatccttcaccgagtcctgt	10	13	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:105178345A>G	ENST00000369797.3	+	15	2154	c.2060A>G	c.(2059-2061)gAc>gGc	p.D687G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	687	S1 motif 7. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGCAGGTGACATCCTTCAC	0.582																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2059-2061)gAc>gGc		programmed cell death 11							122	86	98					10																	105178345		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105178345A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2060A>G	10.37:g.105178345A>G	ENSP00000358812:p.Asp687Gly						p.D687G	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	15	2154	+		Colorectal(252;0.0747)|Breast(234;0.128)	687			S1 motif 7.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2060A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378168	0.61735	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11495	2.77	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.61218	1.895	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.00561	-1.1670	10	0.51188	T	0.08	-30.4073	16.3829	0.83481	1.0:0.0:0.0:0.0	.	687	Q14690	RRP5_HUMAN	G	687	ENSP00000358812:D687G	ENSP00000358812:D687G	D	+	2	0	PDCD11	105168335	1.000000	0.71417	0.998000	0.56505	0.052000	0.14988	8.428000	0.90278	2.271000	0.75665	0.459000	0.35465	GAC		0.582	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			53	70	0	0	0	1	0	53	70					G	105178345	A	G	105178345	3	3	454	1	0	0	0	0	1	0	0	0	11617	275	10	3	2114	3	PDCD11	10	105178345	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		105178345	30356402	18	37968											
ART1	417	broad.mit.edu	37	chr11	3680945	3680945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctcccggatctcaacCacacggagttccaggccaac	8	17	2	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr11:3680945C>T	ENST00000250693.1	+	3	297	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	66					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		GGATCTCAACCACACGGAGTT	0.592																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(196-198)Cac>Tac		ADP-ribosyltransferase 1	Becaplermin(DB00102)						46	41	43					11																	3680945		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3680945C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.196C>T	11.37:g.3680945C>T	ENSP00000250693:p.His66Tyr						p.H66Y	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	297	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	66					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.196C>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	C	7.981	0.751154	0.15778	.	.	ENSG00000129744	ENST00000250693	T	0.08370	3.1	5.38	4.48	0.54585	.	0.932955	0.09245	N	0.828725	T	0.07279	0.0184	N	0.22421	0.69	0.27609	N	0.94873	B	0.02656	0.0	B	0.08055	0.003	T	0.35126	-0.9801	9	.	.	.	.	11.9202	0.52787	0.0:0.9149:0.0:0.0851	.	66	P52961	NAR1_HUMAN	Y	66	ENSP00000250693:H66Y	.	H	+	1	0	ART1	3637521	0.722000	0.28017	0.837000	0.33122	0.329000	0.28539	1.234000	0.32660	1.280000	0.44463	0.467000	0.42956	CAC		0.592	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		11	37	0	0	0	1	0	11	37					T	3680945	C	T	3680945	3	4	454	1	0	0	0	0	1	0	0	0	997	594	21	2	202	2	ART1	11	3680945	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08		3680945	131325571	19	37969											
NINJ2	4815	broad.mit.edu	37	chr12	772646	772646	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagagagcacacagctGgcgggacagacctgccattc	15	11	0	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:772646G>T	ENST00000305108.4	-	1	299	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			GCACACAGCTGGCGGGACAGA	0.627																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(19-21)Cag>Aag		ninjurin 2							72	77	75					12																	772646		2203	4300	6503	SO:0001583	missense	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:772646G>T	AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.19C>A	12.37:g.772646G>T	ENSP00000307552:p.Gln7Lys					RP11-218M22.1_ENST00000543884.1_RNA	p.Q7K	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		1	299	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0						Missense_Mutation	SNP	ENST00000305108.4	37	c.19C>A	CCDS8505.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233612	0.58886	.	.	ENSG00000171840	ENST00000305108	T	0.46063	0.88	3.96	3.06	0.35304	.	.	.	.	.	T	0.24084	0.0583	N	0.19112	0.55	0.80722	D	1	P	0.43477	0.808	B	0.36534	0.227	T	0.02333	-1.1175	9	0.21014	T	0.42	-2.3828	11.647	0.51267	0.0:0.1796:0.8204:0.0	.	7	B4DJC1	.	K	7	ENSP00000307552:Q7K	ENSP00000307552:Q7K	Q	-	1	0	NINJ2	642907	1.000000	0.71417	0.996000	0.52242	0.711000	0.40976	4.662000	0.61525	0.878000	0.35920	-0.165000	0.13383	CAG		0.627	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206673.2	NM_016533		21	127	1	0	5.26018e-13	1	5.62931e-13	21	127					T	772646	G	T	772646	3	4	454	1	0	0	0	0	1	0	0	0	10419	1357	47	4	559	4	NINJ2	12	772646	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		772646	133079249	20	37970											
ERC1	23085	broad.mit.edu	37	chr12	1137520	1137520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcgagagataacacaAtcatggatctgcagacacag	11	9	3	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:1137520A>G	ENST00000397203.2	+	2	857	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	ERC1_ENST00000589028.1_Missense_Mutation_p.I151V|ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	151					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGATAACACAATCATGGATCT	0.458																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(451-453)Atc>Gtc		ELKS/RAB6-interacting/CAST family member 1							137	120	126					12																	1137520		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137520A>G	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.451A>G	12.37:g.1137520A>G	ENSP00000380386:p.Ile151Val					ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000589028.1_Missense_Mutation_p.I151V	p.I151V			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	857	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		151					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.451A>G	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493051	0.64186	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	N	0.24115	0.695	0.52501	D	0.999957	B;B;B	0.26081	0.114;0.141;0.029	B;B;B	0.24394	0.053;0.049;0.028	T	0.77027	-0.2740	10	0.12103	T	0.63	-15.9127	15.8861	0.79251	1.0:0.0:0.0:0.0	.	151;151;151	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	V	151	ENSP00000340054:I151V;ENSP00000380386:I151V;ENSP00000438546:I151V;ENSP00000445336:I151V;ENSP00000442976:I151V;ENSP00000442739:I151V;ENSP00000347621:I151V;ENSP00000354158:I151V;ENSP00000410064:I151V	ENSP00000299183:I151V	I	+	1	0	ERC1	1007781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.246000	0.95438	2.156000	0.67533	0.533000	0.62120	ATC		0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		8	169	0	0	0	1	0	8	169					G	1137520	A	G	1137520	3	3	454	1	0	0	0	0	1	0	0	0	5210	101	4	3	453	3	ERC1	12	1137520	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	364874	1137520	132714375	21	37971											
PRMT8	56341	broad.mit.edu	37	chr12	3692311	3692311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaacgactacgtccacGccctggtcacctattttaat	7	14	1	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:3692311G>A	ENST00000382622.3	+	8	1306	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306	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)	p.A306T(1)		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)			CTACGTCCACGCCCTGGTCAC	0.498																																						ENST00000382622.3																			1	Substitution - Missense(1)	p.A306T(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(916-918)Gcc>Acc		protein arginine methyltransferase 8							96	77	84					12																	3692311		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3692311G>A	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.916G>A	12.37:g.3692311G>A	ENSP00000372067:p.Ala306Thr					PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T|PRMT8_ENST00000261252.4_3'UTR	p.A306T	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		8	1306	+			306					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.916G>A	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692116	0.88735	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78595	-1.19;-1.19	5.55	5.55	0.83447	.	0.047145	0.85682	D	0.000000	D	0.90469	0.7015	H	0.95850	3.73	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.57425	0.82;0.67	D	0.93312	0.6685	10	0.87932	D	0	.	17.0578	0.86539	0.0:0.0:1.0:0.0	.	297;306	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	T	297;306	ENSP00000414507:A297T;ENSP00000372067:A306T	ENSP00000372067:A306T	A	+	1	0	PRMT8	3562572	1.000000	0.71417	0.996000	0.52242	0.520000	0.34377	9.869000	0.99810	2.625000	0.88918	0.650000	0.86243	GCC		0.498	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		11	54	0	0	0	1	0	11	54					A	3692311	G	A	3692311	3	1	454	1	0	0	0	0	1	0	0	0	12542	1087	38	1	946	1	PRMT8	12	3692311	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	2554791	3692311	130159584	22	37972											
PDE3A	5139	broad.mit.edu	37	chr12	20769226	20769226	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttccacttggaccaccacCacctcggccacaggtctacc	6	19	2	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:20769226C>A	ENST00000359062.3	+	4	1372	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	444	Poly-Thr.				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)			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)	GGACCACCACCACCTCGGCCA	0.532																																						ENST00000359062.3																			0				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						c.(1330-1332)acC>acA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						124	113	117					12																	20769226		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769226C>A		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.1332C>A	12.37:g.20769226C>A						PDE3A_ENST00000544307.1_3'UTR	p.T444T	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			4	1372	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	444			Poly-Thr.		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1332C>A	CCDS31754.1																																																																																				0.532	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			4	126	1	0	0.217242	1	0.217242	4	126					A	20769226	C	A	20769226	2	1	454	1	0	0	0	0	0	0	0	1	11637	581	21	4		4	PDE3A	12	20769226	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	17076915	20769226	113082669	23	37973											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	7	0	0	0	1	0	38	7					A	7577121	G	A	7577121	3	1	454	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		7577121	73618089	24	37974											
WDR16	146845	broad.mit.edu	37	chr17	9503430	9503430	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaccacgactggagAtattctaaaaatgaacccca	7	12	1	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:9503430A>C	ENST00000352665.5	+	6	752	c.683A>C	c.(682-684)gAt>gCt	p.D228A	WDR16_ENST00000396219.3_Missense_Mutation_p.D160A|WDR16_ENST00000299764.5_Missense_Mutation_p.D238A	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACGACTGGAGATATTCTAAAA	0.488																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(682-684)gAt>gCt		WD repeat domain 16							171	165	167					17																	9503430		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503430A>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.683A>C	17.37:g.9503430A>C	ENSP00000339449:p.Asp228Ala					WDR16_ENST00000299764.5_Missense_Mutation_p.D238A|WDR16_ENST00000396219.3_Missense_Mutation_p.D160A	p.D228A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			6	752	+			228						Missense_Mutation	SNP	ENST00000352665.5	37	c.683A>C	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476172	0.84640	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.34859	2.59;1.34;5.06	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.90542	3.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.74456	-0.3659	10	0.66056	D	0.02	-30.974	15.3757	0.74602	1.0:0.0:0.0:0.0	.	238;160;228	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	228;160;238	ENSP00000339449:D228A;ENSP00000379521:D160A;ENSP00000299764:D238A	ENSP00000299764:D238A	D	+	2	0	WDR16	9444155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.842000	0.75379	2.326000	0.78906	0.533000	0.62120	GAT		0.488	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		143	200	0	0	0	1	0	143	200					C	9503430	A	C	9503430	3	2	454	1	0	0	0	0	1	0	0	0	17273	333	12	5	705	5	WDR16	17	9503430	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	1926309	9503430	71691780	25	37975											
CDC27	996	broad.mit.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtagatctccatgccttcAactctataattctcaatcct	4	12	4	1	rs62075659		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																						ENST00000066544.3																			2	Substitution - coding silent(2)	p.V533V(1)|p.V539V(1)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1597-1599)gtT>gtG		cell division cycle 27							36	40	39					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216210A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C						CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V	p.V533V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			13	1692	-			533					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1599T>G	CCDS11509.1																																																																																				0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	85	0	0	0	1	0	4	85					C	45216210	A	C	45216210	2	2	454	1	0	0	0	0	0	0	0	1	3066	117	5	5		5	CDC27	17	45216210	Silent	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	35712780	45216210	35979000	26	37976											
TANC2	26115	broad.mit.edu	37	chr17	61482567	61482567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtggcccagccaaaccGccgaggagcagtgccactat	13	14	0	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:61482567G>A	ENST00000424789.2	+	18	3198	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065					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						CAGCCAAACCGCCGAGGAGCA	0.617																																						ENST00000424789.2																			0				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						c.(3193-3195)cGc>cAc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							19	21	21					17																	61482567		2009	4159	6168	SO:0001583	missense	26115						binding	g.chr17:61482567G>A	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.3194G>A	17.37:g.61482567G>A	ENSP00000387593:p.Arg1065His					AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|RP11-269G24.3_ENST00000583552.1_RNA	p.R1065H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			18	3198	+			1065					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.3194G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432927	0.96150	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15952	2.38;2.38	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);	0.050353	0.85682	D	0.000000	T	0.36303	0.0962	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.975;0.993	T	0.02567	-1.1140	10	0.48119	T	0.1	.	19.0198	0.92908	0.0:0.0:1.0:0.0	.	1065;1065	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	1065	ENSP00000374171:R1065H;ENSP00000387593:R1065H	ENSP00000374171:R1065H	R	+	2	0	TANC2	58836299	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.951000	0.87819	2.507000	0.84556	0.655000	0.94253	CGC		0.617	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			4	30	0	0	0	1	0	4	30					A	61482567	G	A	61482567	3	1	454	1	0	0	0	0	1	0	0	0	15542	1087	38	1	3264	1	TANC2	17	61482567	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	16266357	61482567	19712643	27	37977											
CTAGE1	64693	broad.mit.edu	37	chr18	19997008	19997008	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaagttatcatcatccGttacatcttcttcaagcata	3	11	5	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:19997008G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.T256M			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCATCATCCGTTACATCTTC	0.373																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(766-768)aCg>aTg		cutaneous T-cell lymphoma-associated antigen 1							127	127	127					18																	19997008		2200	4300	6500	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997008G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997008G>A	Exception_encountered						p.T256M	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	870	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		256					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.767C>T		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.860909	0.00552	.	.	ENSG00000212710	ENST00000391403	T	0.39592	1.07	0.741	-1.48	0.08745	.	.	.	.	.	T	0.20700	0.0498	N	0.13327	0.33	0.09310	N	1	B	0.24533	0.105	B	0.25291	0.059	T	0.21280	-1.0250	8	.	.	.	.	4.7611	0.13108	0.7329:0.0:0.2671:0.0	.	256	Q96RT6	CTGE2_HUMAN	M	256	ENSP00000375220:T256M	.	T	-	2	0	CTAGE1	18251006	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.086000	0.11233	-1.411000	0.02032	-1.844000	0.00574	ACG		0.373	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		12	191	0	0	0	1	0	12	191					A	19997008	G	A	19997008	1	1	454	0	1	0	0	0	0	0	0	0	3992	1145	40	1		1	CTAGE1	18	19997008	5'Flank	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		19997008	58080240	28	37978											
MYO5B	4645	broad.mit.edu	37	chr18	47367798	47367798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggataaccagaatgaCgtcatctcaaagtcatcatt	8	8	4	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:47367798C>T	ENST00000285039.7	-	35	4937	c.4638G>A	c.(4636-4638)acG>acA	p.T1546T	MYO5B_ENST00000324581.6_Silent_p.T661T|MYO5B_ENST00000592688.1_Silent_p.T116T|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCAGAATGACGTCATCTCAA	0.522																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4636-4638)acG>acA		myosin VB							159	161	160					18																	47367798		2043	4187	6230	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47367798C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4638G>A	18.37:g.47367798C>T						SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.T661T|MYO5B_ENST00000592688.1_Silent_p.T116T	p.T1546T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	35	4937	-			1546			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4638G>A	CCDS42436.1																																																																																				0.522	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			83	155	0	0	0	1	0	83	155					T	47367798	C	T	47367798	2	4	454	1	0	0	0	0	0	0	0	1	10079	523	19	1		1	MYO5B	18	47367798	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	27370790	47367798	30709450	29	37979											
CBLN2	147381	broad.mit.edu	37	chr18	70205466	70205466	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtatttccagccccccatgAggttgcctctctcaagtttg	8	13	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:70205466A>T	ENST00000269503.4	-	5	1393	c.620T>A	c.(619-621)cTc>cAc	p.L207H	CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	207	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCCCCCCATGAGGTTGCCTCT	0.532																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(619-621)cTc>cAc		cerebellin 2 precursor							106	103	104					18																	70205466		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205466A>T	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.620T>A	18.37:g.70205466A>T	ENSP00000269503:p.Leu207His					CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H|CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000583651.1_5'UTR	p.L207H	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			5	1393	-		Esophageal squamous(42;0.131)	207			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.620T>A	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654141	0.47362	.	.	ENSG00000141668	ENST00000269503	T	0.76968	-1.06	5.66	5.66	0.87406	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	D	0.86628	0.5978	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87879	0.2676	10	0.87932	D	0	-22.8756	16.2026	0.82095	1.0:0.0:0.0:0.0	.	207	Q8IUK8	CBLN2_HUMAN	H	207	ENSP00000269503:L207H	ENSP00000269503:L207H	L	-	2	0	CBLN2	68356446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.279000	0.95777	2.285000	0.76669	0.533000	0.62120	CTC		0.532	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		93	107	0	0	0	1	0	93	107					T	70205466	A	T	70205466	3	4	454	1	0	0	0	0	1	0	0	0	2705	304	11	5	58	5	CBLN2	18	70205466	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	22837668	70205466	7871782	30	37980											
LIPE	3991	broad.mit.edu	37	chr19	42930686	42930686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagttttgttagaaAtcccagctctgtcaaagatc	7	9	2	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:42930686A>G	ENST00000244289.4	-	1	892	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	206					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)				TTTGTTAGAAATCCCAGCTCT	0.488																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(616-618)Ttt>Ctt		lipase, hormone-sensitive							120	118	119					19																	42930686		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930686A>G	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.616T>C	19.37:g.42930686A>G	ENSP00000244289:p.Phe206Leu					LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.F206L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	892	-		Prostate(69;0.00682)	206					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.616T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170211	0.38315	.	.	ENSG00000079435	ENST00000244289	T	0.21191	2.02	3.58	2.54	0.30619	.	0.388324	0.18996	N	0.125463	T	0.19005	0.0456	M	0.65975	2.015	0.09310	N	1	B	0.29378	0.243	B	0.18561	0.022	T	0.16482	-1.0401	10	0.52906	T	0.07	-1.4951	6.3414	0.21324	0.7816:0.0:0.0:0.2184	.	206	Q05469	LIPS_HUMAN	L	206	ENSP00000244289:F206L	ENSP00000244289:F206L	F	-	1	0	LIPE	47622526	0.598000	0.26882	0.006000	0.13384	0.458000	0.32498	1.004000	0.29822	0.677000	0.31305	0.533000	0.62120	TTT		0.488	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		50	64	0	0	0	1	0	50	64					G	42930686	A	G	42930686	3	3	454	1	0	0	0	0	1	0	0	0	8821	101	4	3	2654	3	LIPE	19	42930686	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		42930686	16198297	31	37981											
C21orf91	54149	broad.mit.edu	37	chr21	19190530	19190530	+	Frame_Shift_Del	DEL	A	A	-													ctcaatatttagctcaaaacAaatgtggcagaaggagagtg							TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:19190530delA	ENST00000400558.3	-	2	196	c.106delT	c.(106-108)tgtfs	p.C36fs	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000284881.4_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGCTCAAAACAAATGTGGCAG	0.353																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(106-108)gtfs		chromosome 21 open reading frame 91							181	170	173					21																	19190530		1871	4122	5993	SO:0001589	frameshift_variant	54149							g.chr21:19190530delA	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.106delT	21.37:g.19190530delA	ENSP00000383403:p.Cys36fs					C21orf91_ENST00000400558.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000493464.1_5'UTR	p.C36fs	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	196	-			36						Frame_Shift_Del	DEL	ENST00000400558.3	37	c.106delT	CCDS42909.1																																																																																				0.353	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		56	122						56	122	---	---	---	---	-	19190530	A	-	19190530	7	5	454	1	0	1	0	1	0	0	0	0	2134	130	5	0	803	0	C21orf91	21	19190530	Frame_Shift_Del	DEL	A	TCGA-S9-A7R3-01A-11D-A34J-08		19190530	28939365	32	37982											
FAM3B	54097	broad.mit.edu	37	chr21	42694963	42694963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgctgcctatagcatcCgcagcatcggggagaggcct	13	13	0	1	rs528828387	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:42694963C>T	ENST00000357985.2	+	2	279	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398652.3_Missense_Mutation_p.R84C|FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTATAGCATCCGCAGCATCGG	0.602													C|||	5	0.000998403	0.0	0.0	5008	,	,		21412	0.0		0.0	False		,,,				2504	0.0051					ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(250-252)Cgc>Tgc		family with sequence similarity 3, member B							108	89	95					21																	42694963		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42694963C>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"pancreatic-derived factor"	608617	"chromosome 21 open reading frame 11"	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.133C>T	21.37:g.42694963C>T	ENSP00000350673:p.Arg45Cys					FAM3B_ENST00000357985.2_Missense_Mutation_p.R45C|FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron	p.R84C			P58499	FAM3B_HUMAN			3	316	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	45						Missense_Mutation	SNP	ENST00000357985.2	37	c.250C>T	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525947	0.27299	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398646	T;T;T	0.57752	0.5;0.38;0.45	4.68	3.8	0.43715	.	0.499358	0.19352	N	0.116376	T	0.62134	0.2403	L	0.60455	1.87	0.09310	N	1	D;D;D	0.89917	1.0;0.996;0.987	D;P;P	0.62955	0.909;0.795;0.502	T	0.51474	-0.8701	10	0.41790	T	0.15	.	8.5871	0.33664	0.0:0.8923:0.0:0.1077	.	59;68;45	B7Z7I9;A8MTF8;P58499	.;.;FAM3B_HUMAN	C	45;84;68	ENSP00000350673:R45C;ENSP00000381646:R84C;ENSP00000381641:R68C	ENSP00000350673:R45C	R	+	1	0	FAM3B	41616833	0.006000	0.16342	0.005000	0.12908	0.018000	0.09664	1.266000	0.33039	0.958000	0.37956	0.655000	0.94253	CGC		0.602	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		36	74	0	0	0	1	0	36	74					T	42694963	C	T	42694963	3	4	454	1	0	0	0	0	1	0	0	0	5557	652	23	1	139	1	FAM3B	21	42694963	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	23504433	42694963	5434932	33	37983											
CCT8L2	150160	broad.mit.edu	37	chr22	17073284	17073284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttctgccggccgtgggGgccatagcaaggccggatga	16	11	1	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:17073284G>A	ENST00000359963.3	-	1	416	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	53					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCCGTGGGGGCCATAGCAA	0.642																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(157-159)Ccc>Tcc		chaperonin containing TCP1, subunit 8 (theta)-like 2							66	68	67					22																	17073284		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073284G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.157C>T	22.37:g.17073284G>A	ENSP00000353048:p.Pro53Ser						p.P53S	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	416	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	53					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.157C>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646650	0.47258	.	.	ENSG00000198445	ENST00000359963	D	0.95788	-3.81	2.0	2.0	0.26442	.	0.000000	0.38217	U	0.001767	D	0.97065	0.9041	M	0.84683	2.71	0.37702	D	0.924234	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	10	0.87932	D	0	-20.1923	7.4831	0.27417	0.0:0.0:1.0:0.0	.	53	Q96SF2	TCPQM_HUMAN	S	53	ENSP00000353048:P53S	ENSP00000353048:P53S	P	-	1	0	CCT8L2	15453284	1.000000	0.71417	0.986000	0.45419	0.755000	0.42902	3.543000	0.53633	1.126000	0.42016	0.393000	0.25936	CCC		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			63	80	0	0	0	1	0	63	80					A	17073284	G	A	17073284	3	1	454	1	0	0	0	0	1	0	0	0	2961	1232	43	2	1520	2	CCT8L2	22	17073284	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		17073284	34231282	34	37984											
CXorf41	139212	broad.mit.edu	37	chrX	106459933	106459933	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctactattggagccatgggTcctgggaatattggaccacc	11	10	1	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:106459933T>C	ENST00000372453.3	+	3	248	c.186T>C	c.(184-186)ggT>ggC	p.G62G	PIH1D3_ENST00000535523.1_Silent_p.G62G|PIH1D3_ENST00000336387.4_Silent_p.G62G	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	62																	GAGCCATGGGTCCTGGGAATA	0.333																																						ENST00000535523.1																			0											c.(184-186)ggT>ggC		PIH1 domain containing 3							62	56	58					X																	106459933		2203	4297	6500	SO:0001819	synonymous_variant	139212							g.chrX:106459933T>C	AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"sarcoma antigen NY-SAR-97"		"chromosome X open reading frame 41"	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.186T>C	X.37:g.106459933T>C						PIH1D3_ENST00000336387.4_Silent_p.G62G|PIH1D3_ENST00000372453.3_Silent_p.G62G	p.G62G	NM_001169154.1	NP_001162625.1					4	523	+								D3DUX5|Q86WE1	Silent	SNP	ENST00000372453.3	37	c.186T>C	CCDS14528.1																																																																																				0.333	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		35	109	0	0	0	1	0	35	109					C	106459933	T	C	106459933	2	2	454	1	0	0	0	0	0	0	0	1	4110	1654	58	3		3	CXorf41	23	106459933	Silent	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08		106459933	48810627	35	37985											
ZNF280C	55609	broad.mit.edu	37	chrX	129370584	129370584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttagaagtagaaggatGtttcaacacatatgaagtat	8	4	1	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:129370584G>A	ENST00000370978.4	-	7	676	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	175	Ser-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)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTAGAAGGATGTTTCAACACA	0.308																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(523-525)Cat>Tat		zinc finger protein 280C							105	87	93					X																	129370584		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370584G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.523C>T	X.37:g.129370584G>A	ENSP00000360017:p.His175Tyr						p.H175Y	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	676	-			175			Ser-rich.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.523C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307941	0.40895	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.25085	1.82;1.82	4.3	2.46	0.29980	.	.	.	.	.	T	0.17109	0.0411	L	0.34521	1.04	0.09310	N	0.999991	B;B	0.33964	0.056;0.434	B;B	0.39299	0.038;0.296	T	0.24621	-1.0155	9	0.02654	T	1	.	6.4784	0.22049	0.1084:0.1824:0.7092:0.0	.	175;175	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	175	ENSP00000360017:H175Y;ENSP00000408521:H175Y	ENSP00000066465:H175Y	H	-	1	0	ZNF280C	129198265	0.750000	0.28316	0.023000	0.16930	0.037000	0.13140	0.786000	0.26844	0.375000	0.24679	0.468000	0.43344	CAT		0.308	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		44	68	0	0	0	1	0	44	68					A	129370584	G	A	129370584	3	1	454	1	0	0	0	0	1	0	0	0	17813	1377	48	2	1742	2	ZNF280C	23	129370584	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	22910651	129370584	25899976	36	37986											
HCFC1	3054	broad.mit.edu	37	chrX	153236222	153236222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcaccggacccgaccagcCcaccactcgcttccagcggg	11	19	0	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153236222C>A	ENST00000310441.7	-	1	1036	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	TMEM187_ENST00000369982.4_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C|HCFC1-AS1_ENST00000438219.1_RNA|HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	24					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)					CCCGACCAGCCCACCACTCGC	0.682																																						ENST00000310441.7																			0				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						c.(70-72)Ggc>Tgc		host cell factor C1 (VP16-accessory protein)							23	22	23					X																	153236222		1897	4088	5985	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153236222C>A		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.70G>T	X.37:g.153236222C>A	ENSP00000309555:p.Gly24Cys					HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C	p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			1	1036	-	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)		24					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.70G>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320275	0.81469	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03124	4.04;4.04;4.1	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	L	0.29908	0.895	0.58432	D	0.99999	D	0.71674	0.998	D	0.70935	0.971	T	0.13150	-1.0520	10	0.87932	D	0	.	14.2175	0.65802	0.0:1.0:0.0:0.0	.	24	P51610	HCFC1_HUMAN	C	24	ENSP00000309555:G24C;ENSP00000359001:G24C;ENSP00000346174:G24C	ENSP00000309555:G24C	G	-	1	0	HCFC1	152889416	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.257000	0.65473	1.840000	0.53500	0.436000	0.28706	GGC		0.682	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		11	20	1	0	1.08611e-07	1	1.14229e-07	11	20					A	153236222	C	A	153236222	3	1	454	1	0	0	0	0	1	0	0	0	6991	623	22	4	6141	4	HCFC1	23	153236222	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	23865638	153236222	2034338	37	37987											
IRAK1	3654	broad.mit.edu	37	chrX	153282062	153282062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtctcccagcttGggtgtcagcctctcatccag	10	14	3	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153282062G>A	ENST00000369980.3	-	9	1229	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	IRAK1_ENST00000369974.2_Silent_p.P354P|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Silent_p.P380P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|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 apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCAGCTTGGGTGTCAGCC	0.642																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(1060-1062)ccC>ccT		interleukin-1 receptor-associated kinase 1							45	44	44					X																	153282062		2201	4300	6501	SO:0001819	synonymous_variant	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153282062G>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1062C>T	X.37:g.153282062G>A						IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000393682.1_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P|IRAK1_ENST00000369974.2_Silent_p.P354P	p.P354P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			9	1229	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		354			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	c.1062C>T	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.55|10.55	1.380604|1.380604	0.24944|0.24944	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000437278|ENST00000443220	D|.	0.92446|.	-3.04|.	4.81|4.81	2.84|2.84	0.33178|0.33178	.|.	0.000000|.	0.52532|.	D|.	0.000075|.	T|.	0.56396|.	0.1982|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50767|.	-0.8789|.	7|.	0.87932|.	D|.	0|.	-24.5821|-24.5821	8.1866|8.1866	0.31343|0.31343	0.0:0.4525:0.3877:0.1599|0.0:0.4525:0.3877:0.1599	.|.	.|.	.|.	.|.	L|X	27|125	ENSP00000406249:P27L|.	ENSP00000406249:P27L|.	P|Q	-|-	2|1	0|0	IRAK1|IRAK1	152935256|152935256	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.310000|0.310000	0.19356|0.19356	0.819000|0.819000	0.34492|0.34492	0.526000|0.526000	0.51066|0.51066	CCA|CAA		0.642	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			24	42	0	0	0	1	0	24	42					A	153282062	G	A	153282062	2	1	454	1	0	0	0	0	0	0	0	1	7821	1335	47	2		2	IRAK1	23	153282062	Silent	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	45840	153282062	1988498	38	37988											
FCER1A	2205	broad.mit.edu	37	chr1	159277544	159277544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccactacagctccgcGtgagaagtactggctacaat	10	11	0	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:159277544G>A	ENST00000368115.1	+	6	695	c.596G>A	c.(595-597)cGt>cAt	p.R199H	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(595-597)cGt>cAt		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						116	104	108					1																	159277544		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159277544G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.596G>A	1.37:g.159277544G>A	ENSP00000357097:p.Arg199His					FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	p.R199H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			6	695	+	all_hematologic(112;0.0429)		199						Missense_Mutation	SNP	ENST00000368115.1	37	c.596G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441382	0.25900	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02050	4.82;4.48	5.37	-8.56	0.00904	.	9.584880	0.00166	N	0.000000	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	10	0.42905	T	0.14	.	0.8386	0.01145	0.2503:0.329:0.2067:0.214	.	199	P12319	FCERA_HUMAN	H	199;166	ENSP00000357097:R199H;ENSP00000357096:R166H	ENSP00000357096:R166H	R	+	2	0	FCER1A	157544168	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.697000	0.05098	-1.271000	0.02430	-2.604000	0.00161	CGT		0.413	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		26	123	0	0	0	1	0	26	123					A	159277544	G	A	159277544	3	1	455	1	0	0	0	0	1	0	0	0	5774	1145	40	1	614	1	FCER1A	1	159277544	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		159277544	89973077	1	37989											
SLC26A9	115019	broad.mit.edu	37	chr1	205888009	205888009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgtctctagcatttgCctgggcaaagaggactgcgt	13	10	2	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:205888009C>T	ENST00000367135.3	-	19	2328	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	739					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTAGCATTTGCCTGGGCAAAG	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2215-2217)Gca>Aca		solute carrier family 26 (anion exchanger), member 9							273	258	263					1																	205888009		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205888009C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2215G>A	1.37:g.205888009C>T	ENSP00000356103:p.Ala739Thr		OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T	p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2328	-	Breast(84;0.201)		739					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2215G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415863	0.42817	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92965	-3.14;-3.11;-3.14	5.09	5.09	0.68999	.	0.214681	0.40640	N	0.001055	D	0.86678	0.5990	L	0.32530	0.975	0.35553	D	0.804075	B;P	0.43094	0.361;0.799	B;B	0.40901	0.102;0.343	D	0.87223	0.2255	10	0.18710	T	0.47	.	12.9013	0.58126	0.0:0.9206:0.0:0.0794	.	739;739	Q7LBE3;B1AVM8	S26A9_HUMAN;.	T	739	ENSP00000341682:A739T;ENSP00000356103:A739T;ENSP00000356102:A739T	ENSP00000341682:A739T	A	-	1	0	SLC26A9	204154632	1.000000	0.71417	0.109000	0.21407	0.596000	0.36781	3.221000	0.51215	2.512000	0.84698	0.563000	0.77884	GCA		0.522	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		6	237	0	0	0	1	0	6	237					T	205888009	C	T	205888009	3	4	455	1	0	0	0	0	1	0	0	0	14524	739	26	2	468	2	SLC26A9	1	205888009	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	46610465	205888009	43362612	2	37990											
LMAN2L	81562	broad.mit.edu	37	chr2	97403691	97403691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagattcttaccacccGgttccacaaggcaccctgtt	8	13	1	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:97403691G>A	ENST00000264963.4	-	2	323	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	101	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						CTTACCACCCGGTTCCACAAG	0.483																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(301-303)Cgg>Tgg		lectin, mannose-binding 2-like							145	144	144					2																	97403691		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97403691G>A	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.301C>T	2.37:g.97403691G>A	ENSP00000264963:p.Arg101Trp					LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000534882.1_Intron|LMAN2L_ENST00000537039.1_Intron	p.R101W	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			2	323	-			101			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.301C>T	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180226	0.78677	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.65178	-0.14;-0.14	5.42	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.94;0.985	T	0.82926	-0.0215	10	0.87932	D	0	.	8.8094	0.34959	0.0795:0.0:0.7712:0.1494	.	101;101	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	W	101	ENSP00000264963:R101W;ENSP00000366280:R101W	ENSP00000264963:R101W	R	-	1	2	LMAN2L	96767418	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.030000	0.70903	1.293000	0.44690	-0.258000	0.10820	CGG		0.483	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		6	63	0	0	0	1	0	6	63					A	97403691	G	A	97403691	3	1	455	1	0	0	0	0	1	0	0	0	8839	1115	39	1	810	1	LMAN2L	2	97403691	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		97403691	145795682	3	37991											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	66	0	0	0	1	0	31	66					T	209113112	C	T	209113112	3	4	455	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	111709421	209113112	34086261	4	37992											
EPHA4	2043	broad.mit.edu	37	chr2	222294846	222294846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattggagggggtaaccgaTagccttcctcaatggcttta	11	10	1	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:222294846T>C	ENST00000281821.2	-	15	2563	c.2522A>G	c.(2521-2523)tAt>tGt	p.Y841C	EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	841	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTAACCGATAGCCTTCCTC	0.527																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2521-2523)tAt>tGt		EPH receptor A4							111	100	104					2																	222294846		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294846T>C	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2522A>G	2.37:g.222294846T>C	ENSP00000281821:p.Tyr841Cys					EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C	p.Y841C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2563	-		Renal(207;0.0183)	841			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2522A>G	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581732	0.86748	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.93	5.93	0.95920	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	0.90590	0.7050	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91479	0.5203	10	0.87932	D	0	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	841	P54764	EPHA4_HUMAN	C	841;841;841;790	ENSP00000281821:Y841C;ENSP00000386276:Y841C;ENSP00000386829:Y841C;ENSP00000375923:Y790C	ENSP00000281821:Y841C	Y	-	2	0	EPHA4	222003090	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	TAT		0.527	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			9	58	0	0	0	1	0	9	58					C	222294846	T	C	222294846	3	2	455	1	0	0	0	0	1	0	0	0	5169	1406	49	3	450	3	EPHA4	2	222294846	Missense_Mutation	SNP	T	TCGA-S9-A7R4-01A-12D-A34J-08	13181734	222294846	20904527	5	37993											
SCG2	7857	broad.mit.edu	37	chr2	224462280	224462280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggtatcatcattcttcGggggccccacagggaacctt	12	11	3	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:224462280G>A	ENST00000305409.2	-	2	1953	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|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 activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P574Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCATTCTTCGGGGGCCCCAC	0.493																																						ENST00000305409.2																			1	Substitution - Missense(1)	p.P574Q(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1720-1722)cCg>cTg		secretogranin II							84	85	85					2																	224462280		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462280G>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1721C>T	2.37:g.224462280G>A	ENSP00000304133:p.Pro574Leu						p.P574L	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1953	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	574					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1721C>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	7.604	0.673420	0.14776	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01495	4.83	5.55	-3.01	0.05463	.	0.498560	0.18487	N	0.139769	T	0.00906	0.0030	N	0.16478	0.41	0.20196	N	0.999925	B	0.11235	0.004	B	0.08055	0.003	T	0.46373	-0.9196	10	0.28530	T	0.3	.	0.6723	0.00861	0.3814:0.1666:0.253:0.199	.	574	P13521	SCG2_HUMAN	L	574;434	ENSP00000304133:P574L	ENSP00000304133:P574L	P	-	2	0	SCG2	224170524	0.000000	0.05858	0.517000	0.27799	0.874000	0.50279	-0.230000	0.09083	-0.205000	0.10219	0.585000	0.79938	CCG		0.493	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		4	117	0	0	0	1	0	4	117					A	224462280	G	A	224462280	3	1	455	1	0	0	0	0	1	0	0	0	13891	1116	39	1	136	1	SCG2	2	224462280	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	2167434	224462280	18737093	6	37994											
ISL1	3670	broad.mit.edu	37	chr5	50683336	50683336	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgcacaggttgtacgggatCaaatgcgccaagtgcagcat	12	11	1	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr5:50683336C>A	ENST00000230658.7	+	3	816	c.231C>A	c.(229-231)atC>atA	p.I77I	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	77					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|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 vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTACGGGATCAAATGCGCCA	0.622																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(229-231)atC>atA		ISL LIM homeobox 1							31	33	32					5																	50683336		2020	4172	6192	SO:0001819	synonymous_variant	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683336C>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"Homeoboxes / LIM class"	6132	protein-coding gene	gene with protein product		600366	"ISL1 transcription factor, LIM/homeodomain, (islet-1)"			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.231C>A	5.37:g.50683336C>A						ISL1_ENST00000511384.1_Silent_p.I77I|ISL1_ENST00000505475.2_3'UTR	p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			3	816	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	77					P20663|P47894	Silent	SNP	ENST00000230658.7	37	c.231C>A	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330649	0.24167	.	.	ENSG00000016082	ENST00000505475	.	.	.	5.58	4.63	0.57726	.	.	.	.	.	T	0.76463	0.3991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79825	-0.1640	5	0.87932	D	0	.	16.8832	0.86069	0.1369:0.8631:0.0:0.0	.	.	.	.	K	24	.	ENSP00000421737:Q24K	Q	+	1	0	ISL1	50719093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.316000	0.33620	2.637000	0.89404	0.555000	0.69702	CAA		0.622	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		10	13	1	0	0.00010058	1	0.00010058	10	13					A	50683336	C	A	50683336	2	1	455	1	0	0	0	0	0	0	0	1	7856	816	29	4		4	ISL1	5	50683336	Silent	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		50683336	130231924	7	37995											
PKHD1	5314	broad.mit.edu	37	chr6	51890079	51890079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggctcatcagctgtggtgGctaacctctgacccctaatc	9	14	3	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr6:51890079G>A	ENST00000371117.3	-	32	4804	c.4529C>T	c.(4528-4530)gCc>gTc	p.A1510V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1510	IPT/TIG 10.				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)					AGCTGTGGTGGCTAACCTCTG	0.473																																						ENST00000371117.3																			0				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						c.(4528-4530)gCc>gTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							81	75	77					6																	51890079		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890079G>A	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.4529C>T	6.37:g.51890079G>A	ENSP00000360158:p.Ala1510Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	4804	-	Lung NSC(77;0.0605)		1510			IPT/TIG 10.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4529C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.668021	0.29604	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77098	-1.07;-1.07	5.56	1.22	0.21188	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.333710	0.29286	N	0.012595	T	0.59797	0.2220	L	0.38175	1.15	0.09310	N	1	B;P	0.39443	0.127;0.674	B;P	0.48921	0.197;0.595	T	0.55717	-0.8097	10	0.66056	D	0.02	.	6.9845	0.24721	0.1089:0.4219:0.3974:0.0717	.	1510;1510	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1510	ENSP00000360158:A1510V;ENSP00000341097:A1510V	ENSP00000341097:A1510V	A	-	2	0	PKHD1	51998038	0.000000	0.05858	0.006000	0.13384	0.658000	0.38924	0.319000	0.19522	0.364000	0.24374	-0.139000	0.14373	GCC		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		61	99	0	0	0	1	0	61	99					A	51890079	G	A	51890079	3	1	455	1	0	0	0	0	1	0	0	0	11971	1203	42	2	7878	2	PKHD1	6	51890079	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		51890079	119224988	8	37996											
ZNF716	441234	broad.mit.edu	37	chr7	57528588	57528588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaggtgcacaaaggaGgttataattatgttaaccaa	11	4	0	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:57528588G>T	ENST00000420713.1	+	4	533	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	141					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						GCACAAAGGAGGTTATAATTA	0.343																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(421-423)Ggt>Tgt		zinc finger protein 716							213	204	206					7																	57528588		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528588G>T	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.421G>T	7.37:g.57528588G>T	ENSP00000394248:p.Gly141Cys						p.G141C	NM_001159279.1	NP_001152751.1					4	533	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.421G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099783	0.20552	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05319	3.46	0.195	0.195	0.15151	.	.	.	.	.	T	0.11580	0.0282	L	0.33293	1	0.19300	N	0.999979	D	0.76494	0.999	D	0.65573	0.936	T	0.24835	-1.0149	8	0.51188	T	0.08	.	.	.	.	.	129	A6NP11	ZN716_HUMAN	C	141;129	ENSP00000394248:G141C	ENSP00000387687:G129C	G	+	1	0	ZNF716	57532530	0.004000	0.15560	0.166000	0.22797	0.168000	0.22595	0.233000	0.17911	0.300000	0.22699	0.306000	0.20318	GGT		0.343	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		19	33	1	0	2.35188e-11	1	2.40301e-11	19	33					T	57528588	G	T	57528588	3	4	455	1	0	0	0	0	1	0	0	0	18116	1000	35	4	435	4	ZNF716	7	57528588	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		57528588	101610075	9	37997											
SSPO	23145	broad.mit.edu	37	chr7	149505350	149505350	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctttctctgcagcaccTgtgtctctggtaagatggca	9	14	2	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:149505350T>C	ENST00000378016.2	+	0	8908							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)			CTGCAGCACCTGTGTCTCTGG	0.607																																						ENST00000378016.2																			0													SCO-spondin							115	120	119					7																	149505350		2044	4208	6252			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149505350T>C	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.149505350T>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8908	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	174	0	0	0	1	0	4	174					C	149505350	T	C	149505350	1	2	455	0	1	0	0	0	0	0	0	0	15188	1580	55	3		3	SSPO	7	149505350	RNA	SNP	T	TCGA-S9-A7R4-01A-12D-A34J-08	91976762	149505350	9633313	10	37998											
RBM12B	389677	broad.mit.edu	37	chr8	94746794	94746794	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccagtcctcctcCctagggtgcctgaagtcatc	9	17	1	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr8:94746794C>G	ENST00000399300.2	-	3	2058	c.1845G>C	c.(1843-1845)agG>agC	p.R615S	RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	615							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)			AGTCCTCCTCCCTAGGGTGCC	0.642																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1843-1845)agG>agC		RNA binding motif protein 12B							49	51	50					8																	94746794		1864	4110	5974	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746794C>G		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.1845G>C	8.37:g.94746794C>G	ENSP00000382239:p.Arg615Ser					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S	p.R615S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2058	-	Breast(36;4.14e-07)		615					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1845G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214741	0.58452	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06528	3.29;3.32	4.16	-1.52	0.08637	.	.	.	.	.	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	P	0.53360	0.724	T	0.28202	-1.0051	9	0.66056	D	0.02	-6.6933	1.7471	0.02964	0.1395:0.4542:0.1368:0.2696	.	615	Q8IXT5	RB12B_HUMAN	S	615	ENSP00000382239:R615S;ENSP00000427729:R615S	ENSP00000382239:R615S	R	-	3	2	RBM12B	94815970	0.000000	0.05858	0.004000	0.12327	0.961000	0.63080	-1.617000	0.02051	-0.293000	0.08986	-0.145000	0.13849	AGG		0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		11	81	0	0	0	1	0	11	81					G	94746794	C	G	94746794	3	3	455	1	0	0	0	0	1	0	0	0	13114	622	22	4	1164	4	RBM12B	8	94746794	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		94746794	51617228	11	37999											
CEP78	84131	broad.mit.edu	37	chr9	80880816	80880816	+	Intron	DEL	A	A	-													gcttacaatgaaggaacactAatgaaggtacaagtactgat							TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr9:80880816delA	ENST00000424347.2	+	14	2086				CEP78_ENST00000277082.5_Intron|CEP78_ENST00000376597.4_Frame_Shift_Del_p.L614fs|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000415759.2_Intron			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGGAACACTAATGAAGGTAC	0.294																																						ENST00000376597.4																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1840-1842)ctfs		centrosomal protein 78kDa							24	24	24					9																	80880816		1765	3911	5676	SO:0001627	intron_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80880816delA	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 81"	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1797+357A>-	9.37:g.80880816delA						CEP78_ENST00000424347.2_Intron|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000277082.5_Intron	p.L614fs	NM_001098802.1	NP_001092272.1	Q5JTW2	CEP78_HUMAN			15	1986	+			599					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Frame_Shift_Del	DEL	ENST00000424347.2	37	c.1842delA																																																																																					0.294	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		2	4						2	4	---	---	---	---	-	80880816	A	-	80880816	6	5	455	0	1	1	0	1	0	0	0	0	3262	349	13	0		0	CEP78	9	80880816	Intron	DEL	A	TCGA-S9-A7R4-01A-12D-A34J-08		80880816	60332615	12	38000											
PTCHD3	374308	broad.mit.edu	37	chr10	27702370	27702370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttgttcacctgccaggcGtacaggatcgggttgggggg	17	8	1	0	rs376677291		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627																																						ENST00000438700.3																			1	Substitution - coding silent(1)	p.Y270Y(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(808-810)taC>taT		patched domain containing 3		A		1,4405	2.1+/-5.4	0,1,2202	52	57	55		810	0.1	0	10		55	0,8600		0,0,4300	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		270/768	27702370	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702370G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.810C>T	10.37:g.27702370G>A							p.Y270Y	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	927	-			270					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.810C>T	CCDS31173.1																																																																																				0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		7	53	0	0	0	1	0	7	53					A	27702370	G	A	27702370	2	1	455	1	0	0	0	0	0	0	0	1	12734	1140	40	1		1	PTCHD3	10	27702370	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		27702370	107832377	13	38001											
MYOF	26509	broad.mit.edu	37	chr10	95191198	95191198	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttttcatttagcagggaGatcagcttgtacggcaggga	12	8	2	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:95191198G>T	ENST00000359263.4	-	4	311	c.312C>A	c.(310-312)atC>atA	p.I104I	MYOF_ENST00000371502.4_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371501.4_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	104					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAGCAGGGAGATCAGCTTGT	0.448																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(310-312)atC>atA		myoferlin							98	93	95					10																	95191198		1945	4158	6103	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95191198G>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.312C>A	10.37:g.95191198G>T						MYOF_ENST00000359263.4_Silent_p.I104I|MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000371502.4_Silent_p.I104I	p.I104I			Q9NZM1	MYOF_HUMAN			4	434	-			104					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.312C>A	CCDS41551.1																																																																																				0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		26	38	1	0	3.90053e-15	1	4.07388e-15	26	38					T	95191198	G	T	95191198	2	4	455	1	0	0	0	0	0	0	0	1	10089	932	33	4		4	MYOF	10	95191198	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	67488828	95191198	40343549	14	38002											
NUP98	4928	broad.mit.edu	37	chr11	3700842	3700842	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtccaggtaaacaagcccaGatgtttcccaatcctgaatt	7	11	0	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:3700842G>C	ENST00000324932.7	-	31	5435	c.5015C>G	c.(5014-5016)tCt>tGt	p.S1672C	NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1689					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|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)|nuclear pore organization (GO:0006999)|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)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAAGCCCAGATGTTTCCCA	0.463			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5014-5016)tCt>tGt		nucleoporin 98kDa							94	87	89					11																	3700842		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3700842G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5015C>G	11.37:g.3700842G>C	ENSP00000316032:p.Ser1672Cys					NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	p.S1672C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	31	5435	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1689					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5015C>G	CCDS7746.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.9|23.9|23.9	4.473629|4.473629|4.473629	0.84640|0.84640|0.84640	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000533346|ENST00000324932;ENST00000359171;ENST00000355260	.|.|.	.|.|.	.|.|.	5.58|5.58|5.58	4.67|4.67|4.67	0.58626|0.58626|0.58626	.|.|.	.|.|0.124396	.|.|0.52532	.|.|D	.|.|0.000063	T|T|T	0.54498|0.54498|0.54498	0.1862|0.1862|0.1862	L|L|L	0.43152|0.43152|0.43152	1.355|1.355|1.355	0.26923|0.26923|0.26923	N|N|N	0.966625|0.966625|0.966625	.|.|D;D;P	.|.|0.67145	.|.|0.996;0.972;0.925	.|.|D;P;P	.|.|0.65987	.|.|0.94;0.792;0.639	T|T|T	0.52102|0.52102|0.52102	-0.8620|-0.8620|-0.8620	5|5|9	.|.|0.87932	.|.|D	.|.|0	-7.6774|-7.6774|-7.6774	14.1217|14.1217|14.1217	0.65192|0.65192|0.65192	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.|.	.|.|1598;1672;1586	.|.|P52948-2;P52948-5;P52948-6	.|.|.;.;.	M|V|C	624|26|1672;1598;1598	.|.|.	.|.|ENSP00000316032:S1672C	I|L|S	-|-|-	3|1|2	3|2|0	NUP98|NUP98|NUP98	3657418|3657418|3657418	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.983000|0.983000|0.983000	0.72400|0.72400|0.72400	9.586000|9.586000|9.586000	0.98226|0.98226|0.98226	1.510000|1.510000|1.510000	0.48803|0.48803|0.48803	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	ATC|CTG|TCT		0.463	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		26	54	0	0	0	1	0	26	54					C	3700842	G	C	3700842	3	2	455	1	0	0	0	0	1	0	0	0	10773	942	33	4	399	4	NUP98	11	3700842	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		3700842	131305674	15	38003											
TRIM3	10612	broad.mit.edu	37	chr11	6470639	6470639	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cattgccctcgccatgggagCcaaacttgaagaggaactct	10	12	1	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:6470639C>G	ENST00000525074.1	-	11	2373	c.1979G>C	c.(1978-1980)gGc>gCc	p.G660A	TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	660					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATGGGAGCCAAACTTGAA	0.602																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1978-1980)gGc>gCc		tripartite motif containing 3							52	42	45					11																	6470639		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6470639C>G	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1979G>C	11.37:g.6470639C>G	ENSP00000433102:p.Gly660Ala					TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A	p.G660A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	2373	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	660					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1979G>C	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303492	0.81136	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	4.8	4.8	0.61643	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95413	0.8500	10	0.59425	D	0.04	-24.6992	16.6192	0.84925	0.0:1.0:0.0:0.0	.	541;660	F5H2Q8;O75382	.;TRIM3_HUMAN	A	660;660;660;660;649;582;660;541	ENSP00000433102:G660A;ENSP00000340797:G660A;ENSP00000441091:G582A;ENSP00000352508:G660A;ENSP00000445460:G541A	ENSP00000337094:G649A	G	-	2	0	TRIM3	6427215	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.651000	0.83577	2.492000	0.84095	0.563000	0.77884	GGC		0.602	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	29	0	0	0	1	0	4	29					G	6470639	C	G	6470639	3	3	455	1	0	0	0	0	1	0	0	0	16501	739	26	4	263	4	TRIM3	11	6470639	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	2769797	6470639	128535877	16	38004											
TUB	7275	broad.mit.edu	37	chr11	8115663	8115663	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagcaccagcttcagccaaGagaaccaaggcggcagctac	10	14	1	1	rs191273787		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8115663G>C	ENST00000299506.2	+	4	473	c.324G>C	c.(322-324)aaG>aaC	p.K108N	TUB_ENST00000534099.1_Missense_Mutation_p.K114N|TUB_ENST00000305253.4_Missense_Mutation_p.K163N	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	108					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTTCAGCCAAGAGAACCAAGG	0.602																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(487-489)aaG>aaC		tubby bipartite transcription factor							57	58	58					11																	8115663		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8115663G>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.324G>C	11.37:g.8115663G>C	ENSP00000299506:p.Lys108Asn					TUB_ENST00000299506.2_Missense_Mutation_p.K108N|TUB_ENST00000534099.1_Missense_Mutation_p.K114N	p.K163N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	5	730	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	108					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.489G>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486102	0.26686	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86297	-2.08;-2.1;-2.06	4.71	3.66	0.41972	Tubby, N-terminal (1);	0.221032	0.47455	D	0.000221	D	0.86020	0.5833	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.78314	0.981;0.981;0.991	T	0.81048	-0.1109	10	0.17832	T	0.49	-9.3344	6.6444	0.22927	0.3356:0.0:0.6644:0.0	.	114;108;163	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	N	114;163;108	ENSP00000434400:K114N;ENSP00000305426:K163N;ENSP00000299506:K108N	ENSP00000299506:K108N	K	+	3	2	TUB	8072239	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.754000	0.55189	1.075000	0.40932	0.591000	0.81541	AAG		0.602	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		77	173	0	0	0	1	0	77	173					C	8115663	G	C	8115663	3	2	455	1	0	0	0	0	1	0	0	0	16739	933	33	4	549	4	TUB	11	8115663	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	1645024	8115663	126890853	17	38005											
TUB	7275	broad.mit.edu	37	chr11	8117074	8117074	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggccagcagcactggcagaaGacaagtctgaggcccaaggc	14	12	1	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8117074G>C	ENST00000299506.2	+	5	576	c.427G>C	c.(427-429)Gac>Cac	p.D143H	TUB_ENST00000534099.1_Missense_Mutation_p.D149H|TUB_ENST00000305253.4_Missense_Mutation_p.D198H	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	143					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTGGCAGAAGACAAGTCTGA	0.652																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(592-594)Gac>Cac		tubby bipartite transcription factor							33	36	35					11																	8117074		2199	4294	6493	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8117074G>C	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.427G>C	11.37:g.8117074G>C	ENSP00000299506:p.Asp143His					TUB_ENST00000299506.2_Missense_Mutation_p.D143H|TUB_ENST00000534099.1_Missense_Mutation_p.D149H	p.D198H	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	6	833	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	143			Asp/Glu-rich.		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.592G>C	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349181	0.61183	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86097	-2.04;-2.07;-2.04	5.22	4.29	0.51040	Tubby, N-terminal (1);	0.785677	0.11945	N	0.514340	D	0.84515	0.5489	L	0.47190	1.495	0.53005	D	0.999966	P;P;P	0.49090	0.744;0.868;0.919	B;B;P	0.46208	0.31;0.31;0.507	T	0.82808	-0.0274	10	0.56958	D	0.05	-17.1212	14.2054	0.65730	0.0:0.0:0.8488:0.1512	.	149;143;198	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	H	149;198;143	ENSP00000434400:D149H;ENSP00000305426:D198H;ENSP00000299506:D143H	ENSP00000299506:D143H	D	+	1	0	TUB	8073650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.538000	0.67193	1.298000	0.44778	0.655000	0.94253	GAC		0.652	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		56	24	0	0	0	1	0	56	24					C	8117074	G	C	8117074	3	2	455	1	0	0	0	0	1	0	0	0	16739	942	33	4	656	4	TUB	11	8117074	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	1411	8117074	126889442	18	38006											
MS4A4A	51338	broad.mit.edu	37	chr11	60059749	60059749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggaacaggccatgccAggggctggccctggtgtgcc	17	11	0	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:60059749A>G	ENST00000337908.4	+	2	183	c.93A>G	c.(91-93)ccA>ccG	p.P31P	MS4A4A_ENST00000532114.1_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P|MS4A4A_ENST00000355131.3_Silent_p.P12P	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	31						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AGGCCATGCCAGGGGCTGGCC	0.473																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(34-36)ccA>ccG		membrane-spanning 4-domains, subfamily A, member 4A							75	76	75					11																	60059749		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60059749A>G	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"membrane-spanning 4-domains, subfamily A, member 4"	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.93A>G	11.37:g.60059749A>G						MS4A4A_ENST00000337908.4_Silent_p.P31P|MS4A4A_ENST00000532114.1_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P	p.P12P	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			3	259	+			31					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.36A>G	CCDS7982.1																																																																																				0.473	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			12	73	0	0	0	1	0	12	73					G	60059749	A	G	60059749	2	3	455	1	0	0	0	0	0	0	0	1	9862	175	7	3		3	MS4A4A	11	60059749	Silent	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	51942675	60059749	74946767	19	38007											
MEN1	4221	broad.mit.edu	37	chr11	64571946	64571946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatcttggtggccaccaGcagctccttcatgcccttca	9	14	3	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:64571946G>A	ENST00000337652.1	-	10	2211	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000377321.1_Silent_p.L530L|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000394376.1_Silent_p.L570L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Silent_p.L565L|MEN1_ENST00000394374.2_Silent_p.L570L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	570					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|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 activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCACCAGCAGCTCCTTC	0.577			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1708-1710)Ctg>Ttg		multiple endocrine neoplasia I							196	171	179					11																	64571946		2201	4297	6498	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64571946G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1708C>T	11.37:g.64571946G>A						MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000315422.4_Silent_p.L565L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000394376.1_Silent_p.L570L|MEN1_ENST00000394374.2_Silent_p.L570L|MEN1_ENST00000377321.1_Silent_p.L530L	p.L570L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	2211	-			570					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1708C>T	CCDS8083.1																																																																																				0.577	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			24	178	0	0	0	1	0	24	178					A	64571946	G	A	64571946	2	1	455	1	0	0	0	0	0	0	0	1	9472	962	34	2		2	MEN1	11	64571946	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	4512197	64571946	70434570	20	38008											
LHFP	10186	broad.mit.edu	37	chr13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcttctgtttcttgcccGaaaagcaagccagccacgtg	10	12	2	0	rs569393753		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557			T	HMGA2	lipoma								G|||	1	0.000199681	0.0	0.0014	5008	,	,		15312	0.0		0.0	False		,,,				2504	0.0					ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(571-573)tCg>tTg		lipoma HMGIC fusion partner							107	89	95					13																	39918104		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39918104G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.572C>T	13.37:g.39918104G>A	ENSP00000368908:p.Ser191Leu						p.S191L	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	4	1034	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	191					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.572C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281482	0.80692	.	.	ENSG00000183722	ENST00000379589	T	0.76448	-1.02	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000032	T	0.62756	0.2454	N	0.19112	0.55	0.51767	D	0.999931	P	0.43662	0.814	B	0.34385	0.181	T	0.64474	-0.6399	9	.	.	.	.	17.8177	0.88640	0.0:0.0:1.0:0.0	.	191	Q9Y693	LHFP_HUMAN	L	191	ENSP00000368908:S191L	.	S	-	2	0	LHFP	38816104	1.000000	0.71417	0.940000	0.37924	0.793000	0.44817	9.363000	0.97131	2.459000	0.83118	0.557000	0.71058	TCG		0.557	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		47	58	0	0	0	1	0	47	58					A	39918104	G	A	39918104	3	1	455	1	0	0	0	0	1	0	0	0	8763	1059	37	1	34	1	LHFP	13	39918104	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		39918104	75251774	21	38009											
ZNF828	283489	broad.mit.edu	37	chr13	115090946	115090946	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcccctcctgcttctccAgaagcacgcaaacgtgccct	7	18	1	1	rs566990403		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:115090946A>G	ENST00000361283.1	+	3	1938	c.1629A>G	c.(1627-1629)ccA>ccG	p.P543P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	543	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTGCTTCTCCAGAAGCACGCA	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		17552	0.0		0.0	False		,,,				2504	0.001					ENST00000361283.1																			0											c.(1627-1629)ccA>ccG		chromosome alignment maintaining phosphoprotein 1							188	216	207					13																	115090946		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090946A>G	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1629A>G	13.37:g.115090946A>G							p.P543P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1938	+			543			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1629A>G	CCDS9545.1																																																																																				0.527	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		8	392	0	0	0	1	0	8	392					G	115090946	A	G	115090946	2	3	455	1	0	0	0	0	0	0	0	1	18178	175	7	3		3	ZNF828	13	115090946	Silent	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	75172842	115090946	78932	22	38010											
MYO9A	4649	broad.mit.edu	37	chr15	72324886	72324886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaataaacttcccaaaaCgacttgaattgttattatga	5	7	0	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr15:72324886C>T	ENST00000356056.5	-	3	1356	c.884G>A	c.(883-885)cGt>cAt	p.R295H	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	295	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCCCAAAACGACTTGAATT	0.328																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(883-885)cGt>cAt		myosin IXA							104	98	100					15																	72324886		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72324886C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.884G>A	15.37:g.72324886C>T	ENSP00000348349:p.Arg295His					MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H|RP11-390D11.1_ENST00000568391.1_RNA	p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			3	1356	-			295			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.884G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197908	0.94997	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.84516	-1.86;-1.86;-1.86	4.99	4.99	0.66335	Myosin head, motor domain (3);	.	.	.	.	D	0.95101	0.8413	H	0.97732	4.065	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	P;P;D	0.68353	0.908;0.908;0.957	D	0.97000	0.9728	9	0.87932	D	0	.	17.0297	0.86457	0.0:1.0:0.0:0.0	.	295;295;295	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	295	ENSP00000348349:R295H;ENSP00000399162:R295H;ENSP00000398250:R295H	ENSP00000261864:R295H	R	-	2	0	MYO9A	70111940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.306000	0.77630	0.561000	0.74099	CGT		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		22	44	0	0	0	1	0	22	44					T	72324886	C	T	72324886	3	4	455	1	0	0	0	0	1	0	0	0	10084	536	19	1	6922	1	MYO9A	15	72324886	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		72324886	30206506	23	38011											
ABCC6	368	broad.mit.edu	37	chr16	16276377	16276377	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgggtccagctcctgcccGaagcacacattctctaccac	9	16	1	0	rs115546382		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:16276377G>A	ENST00000205557.7	-	17	2168	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	713	ABC transporter 1. {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)	GCTCCTGCCCGAAGCACACAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18615	0.001		0.0	False		,,,				2504	0.0					ENST00000205557.7																			0				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						c.(2137-2139)ttC>ttT		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							78	68	71					16																	16276377		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16276377G>A	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.2139C>T	16.37:g.16276377G>A						ABCC6_ENST00000574094.1_Intron	p.F713F	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2168	-			713			ABC transporter 1.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.2139C>T	CCDS10568.1																																																																																				0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			26	40	0	0	0	1	0	26	40					A	16276377	G	A	16276377	2	1	455	1	0	0	0	0	0	0	0	1	57	1049	37	1		1	ABCC6	16	16276377	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		16276377	74078376	24	38012											
SULT1A2	6799	broad.mit.edu	37	chr16	28606753	28606753	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtgtcttcaggagtcGtggggctggtgtgtttttca	16	6	3	0	rs559346977		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28606753G>A	ENST00000395630.1	-	4	657	c.307C>T	c.(307-309)Cga>Tga	p.R103*	SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*|SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCAGGAGTCGTGGGGCTGGT	0.592																																						ENST00000395630.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(307-309)Cga>Tga		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							138	130	133					16																	28606753		2197	4300	6497	SO:0001587	stop_gained	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28606753G>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.307C>T	16.37:g.28606753G>A	ENSP00000378992:p.Arg103*					SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*	p.R103*	NM_177528.2	NP_803564.1	P50226	ST1A2_HUMAN			4	657	-			103					A9QY25|P78393|Q14CJ7	Nonsense_Mutation	SNP	ENST00000395630.1	37	c.307C>T	CCDS10636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	35|35	5.525637|5.525637	0.96431|0.96431	.|.	.|.	ENSG00000197165|ENSG00000197165	ENST00000335715;ENST00000395630;ENST00000526384|ENST00000533150	.|T	.|0.02345	.|4.33	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	.|T	.|0.09774	.|0.0240	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.06552	.|-1.0820	.|5	0.02654|0.54805	T|T	1|0.06	.|.	15.1874|15.1874	0.73016|0.73016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	103|131	.|ENSP00000435271:T131M	ENSP00000338742:R103X|ENSP00000435271:T131M	R|T	-|-	1|2	2|0	SULT1A2|SULT1A2	28514254|28514254	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.084000|0.084000	0.17831|0.17831	6.378000|6.378000	0.73150|0.73150	2.148000|2.148000	0.66965|0.66965	0.556000|0.556000	0.70494|0.70494	CGA|ACG		0.592	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		12	115	0	0	0	1	0	12	115					A	28606753	G	A	28606753	4	1	455	1	0	0	0	0	0	1	0	0	15372	1153	40	1	600	1	SULT1A2	16	28606753	Nonsense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	12330376	28606753	61748000	25	38013											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	11	14	2	2	rs55863639		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGCAACTGACCGTGCAAGTCA	0.537		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(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	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639	c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66	61	63					17																	7579312		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579312C>T	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.375+1G>A	17.37:g.7579312C>T		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)				TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice	p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	49	21	0	0	0	1	0	49	21					T	7579312	C	T	7579312	5	4	455	1	0	0	0	0	0	0	1	0	16378	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		7579312	73615898	26	38014											
SPAG5	10615	broad.mit.edu	37	chr17	26912593	26912593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggcctctgaattcccGcatggatgctaggtcctgtt	11	11	1	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:26912593G>A	ENST00000321765.5	-	8	2151	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	607	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.R607W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGAATTCCCGCATGGATGCT	0.537																																						ENST00000321765.5																			1	Substitution - Missense(1)	p.R607W(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1819-1821)Cgg>Tgg		sperm associated antigen 5							132	126	128					17																	26912593		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912593G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1819C>T	17.37:g.26912593G>A	ENSP00000323300:p.Arg607Trp						p.R607W	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			8	2151	-	Lung NSC(42;0.00431)		607					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.1819C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753805	0.15778	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.63	-0.355	0.12587	.	1.218310	0.05662	N	0.586983	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	P	0.45078	0.85	B	0.39152	0.292	T	0.25082	-1.0142	9	0.87932	D	0	-0.0205	7.6411	0.28294	0.0:0.323:0.3178:0.3592	.	607	Q96R06	SPAG5_HUMAN	W	607;104	.	ENSP00000323300:R607W	R	-	1	2	SPAG5	23936720	0.002000	0.14202	0.084000	0.20598	0.118000	0.20060	-0.443000	0.06862	0.027000	0.15297	0.655000	0.94253	CGG		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		5	258	0	0	0	1	0	5	258					A	26912593	G	A	26912593	3	1	455	1	0	0	0	0	1	0	0	0	14981	1086	38	1	1830	1	SPAG5	17	26912593	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	19333281	26912593	54282617	27	38015											
SMARCA4	6597	broad.mit.edu	37	chr19	11123706	11123706	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagatgggcctggggaagAccatccagaccatcgcgctc	13	13	0	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:11123706A>G	ENST00000429416.3	+	17	2637	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	SMARCA4_ENST00000358026.2_Missense_Mutation_p.T786A|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	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)				CCTGGGGAAGACCATCCAGAC	0.577			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(2356-2358)Acc>Gcc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							179	111	134					19																	11123706		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11123706A>G	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.2356A>G	19.37:g.11123706A>G	ENSP00000395654:p.Thr786Ala					SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A	p.T786A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			16	2640	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	786			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2356A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583028	0.86748	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.99777	4.77	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;1.0;1.0	D	0.96851	0.9625	10	0.87932	D	0	-47.2375	13.3423	0.60551	1.0:0.0:0.0:0.0	.	786;786;786;786;786;786;786	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	786;786;850;786;786;786;786;786	ENSP00000395654:T786A;ENSP00000350720:T786A;ENSP00000343896:T786A;ENSP00000445036:T786A;ENSP00000392837:T786A;ENSP00000397783:T786A;ENSP00000414727:T786A	ENSP00000343896:T786A	T	+	1	0	SMARCA4	10984706	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.139000	0.94554	1.988000	0.58038	0.533000	0.62120	ACC		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		9	60	0	0	0	1	0	9	60					G	11123706	A	G	11123706	3	3	455	1	0	0	0	0	1	0	0	0	14770	275	10	3	2414	3	SMARCA4	19	11123706	Missense_Mutation	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08		11123706	48005277	28	38016											
OR7A17	26333	broad.mit.edu	37	chr19	14991465	14991465	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaggtggaaaatgccttgtActtcccctgagctgatgaga	11	9	0	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:14991465A>T	ENST00000327462.2	-	1	799	c.703T>A	c.(703-705)Tac>Aac	p.Y235N		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AATGCCTTGTACTTCCCCTGA	0.502																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(703-705)Tac>Aac		olfactory receptor, family 7, subfamily A, member 17							107	95	99					19																	14991465		2203	4298	6501	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991465A>T	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.703T>A	19.37:g.14991465A>T	ENSP00000328144:p.Tyr235Asn						p.Y235N	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	799	-	Ovarian(108;0.203)		235					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.703T>A	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	a	7.289	0.610664	0.14066	.	.	ENSG00000185385	ENST00000327462	T	0.00084	8.75	3.37	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.458821	0.16171	U	0.226298	T	0.00300	0.0009	M	0.75615	2.305	0.09310	N	1	P	0.35894	0.526	P	0.53313	0.723	T	0.39781	-0.9597	10	0.66056	D	0.02	.	0.8648	0.01201	0.4856:0.2018:0.1168:0.1958	.	235	O14581	OR7AH_HUMAN	N	235	ENSP00000328144:Y235N	ENSP00000328144:Y235N	Y	-	1	0	OR7A17	14852465	0.000000	0.05858	0.073000	0.20177	0.008000	0.06430	-1.118000	0.03280	0.074000	0.16767	-0.721000	0.03606	TAC		0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		13	114	0	0	0	1	0	13	114					T	14991465	A	T	14991465	3	4	455	1	0	0	0	0	1	0	0	0	11215	391	14	5	228	5	OR7A17	19	14991465	Missense_Mutation	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	3867759	14991465	44137518	29	38017											
NUDT19	390916	broad.mit.edu	37	chr19	33183494	33183494	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctttcttgcggggcaccactCgccgctttgacacggccttc	10	16	1	1	rs376287006		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:33183494C>G	ENST00000397061.3	+	1	628	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	210	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGGCACCACTCGCCGCTTTGA	0.677													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15007	0.0		0.0	False		,,,				2504	0.0					ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(628-630)Cgc>Ggc		nudix (nucleoside diphosphate linked moiety X)-type motif 19							14	15	15					19																	33183494		2001	4151	6152	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183494C>G		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.628C>G	19.37:g.33183494C>G	ENSP00000380251:p.Arg210Gly						p.R210G	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	628	+	Esophageal squamous(110;0.137)		210			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000397061.3	37	c.628C>G	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	c	19.15	3.771633	0.69992	.	.	ENSG00000213965	ENST00000397061	T	0.07444	3.19	4.85	3.78	0.43462	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.562638	0.15886	U	0.239798	T	0.26085	0.0636	M	0.87758	2.905	0.29566	N	0.850271	P	0.52842	0.956	P	0.56163	0.793	T	0.06844	-1.0804	10	0.54805	T	0.06	-12.351	11.5279	0.50591	0.2819:0.7181:0.0:0.0	.	210	A8MXV4	NUD19_HUMAN	G	210	ENSP00000380251:R210G	ENSP00000380251:R210G	R	+	1	0	NUDT19	37875334	0.009000	0.17119	0.304000	0.25085	0.082000	0.17680	1.565000	0.36386	2.254000	0.74563	0.486000	0.48141	CGC		0.677	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		3	21	0	0	0	1	0	3	21					G	33183494	C	G	33183494	3	3	455	1	0	0	0	0	1	0	0	0	10736	884	31	4	630	4	NUDT19	19	33183494	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	18192029	33183494	25945489	30	38018											
NKPD1	284353	broad.mit.edu	37	chr19	45656283	45656283	+	Frame_Shift_Del	DEL	C	C	-													tgttgatggcgttgagcacgCccaccacgcgctccgggtag							TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45656283delC	ENST00000438936.2	-	3	957	c.746delG	c.(745-747)ggcfs	p.G249fs	NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000317951.4_Frame_Shift_Del_p.G471fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs|AC005757.7_ENST00000589594.1_lincRNA			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	249	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTGAGCACGCCCACCACGCG	0.662																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1411-1413)gcfs		NTPase, KAP family P-loop domain containing 1							11	14	13					19																	45656283		2150	4226	6376	SO:0001589	frameshift_variant	284353							g.chr19:45656283delC	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.746delG	19.37:g.45656283delC	ENSP00000401739:p.Gly249fs					NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000438936.2_Frame_Shift_Del_p.G249fs	p.G471fs	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1411	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Frame_Shift_Del	DEL	ENST00000438936.2	37	c.1412delG																																																																																					0.662	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		2	4						2	4	---	---	---	---	-	45656283	C	-	45656283	7	5	455	1	0	1	0	1	0	0	0	0	10446	739	26	0	1090	0	NKPD1	19	45656283	Frame_Shift_Del	DEL	C	TCGA-S9-A7R4-01A-12D-A34J-08	12472789	45656283	13472700	31	38019											
KIF16B	55614	broad.mit.edu	37	chr20	16352371	16352371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgatgcaaatcctgaaggCgtctttggacttcttcttca	8	11	4	1	rs538666717		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:16352371C>T	ENST00000354981.2	-	21	3543	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|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)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCCTGAAGGCGTCTTTGGAC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19001	0.0		0.0	False		,,,				2504	0.001					ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3385-3387)cGc>cAc		kinesin family member 16B							167	137	147					20																	16352371		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16352371C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3386G>A	20.37:g.16352371C>T	ENSP00000347076:p.Arg1129His					KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H	p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			21	3543	-			1129					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3386G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259090	0.95368	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.81078	-0.71;-0.84;1.71;-1.45	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	L	0.59436	1.845	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.88793	0.3279	10	0.72032	D	0.01	.	20.0583	0.97661	0.0:1.0:0.0:0.0	.	1129;1129;1129	Q96L93-2;Q96L93-6;Q96L93	.;.;KI16B_HUMAN	H	1129;1129;973;355;1129	ENSP00000347076:R1129H;ENSP00000347995:R1129H;ENSP00000367242:R355H;ENSP00000384164:R1129H	ENSP00000347076:R1129H	R	-	2	0	KIF16B	16300371	1.000000	0.71417	0.989000	0.46669	0.561000	0.35649	7.040000	0.76551	2.743000	0.94032	0.643000	0.83706	CGC		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		9	154	0	0	0	1	0	9	154					T	16352371	C	T	16352371	3	4	455	1	0	0	0	0	1	0	0	0	8278	768	27	1	591	1	KIF16B	20	16352371	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		16352371	46673149	32	38020											
ZNF217	7764	broad.mit.edu	37	chr20	52199070	52199070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatactctgcttcaaccCgaagaactgctggttcacag	9	11	3	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:52199070C>T	ENST00000371471.2	-	2	721	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	99					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|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(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTTCAACCCGAAGAACTGC	0.443																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(295-297)cGg>cAg		zinc finger protein 217							137	131	133					20																	52199070		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199070C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.296G>A	20.37:g.52199070C>T	ENSP00000360526:p.Arg99Gln					ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q	p.R99Q			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	721	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		99					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.296G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310090	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09911	2.93;2.93	5.79	5.79	0.91817	.	0.062472	0.64402	D	0.000004	T	0.27098	0.0664	M	0.63843	1.955	0.58432	D	0.99999	D	0.69078	0.997	P	0.56042	0.79	T	0.00083	-1.2103	10	0.42905	T	0.14	-31.2629	19.635	0.95728	0.0:1.0:0.0:0.0	.	99	O75362	ZN217_HUMAN	Q	99	ENSP00000360526:R99Q;ENSP00000304308:R99Q	ENSP00000304308:R99Q	R	-	2	0	ZNF217	51632477	0.989000	0.36119	0.846000	0.33378	0.316000	0.28119	2.851000	0.48302	2.733000	0.93635	0.655000	0.94253	CGG		0.443	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		38	187	0	0	0	1	0	38	187					T	52199070	C	T	52199070	3	4	455	1	0	0	0	0	1	0	0	0	17769	652	23	1	2866	1	ZNF217	20	52199070	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	35846699	52199070	10826450	33	38021											
SYNJ1	8867	broad.mit.edu	37	chr21	34029205	34029205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctatatcaatcagggcaaCgacaggccttaaggcataaa	8	9	3	0	rs377350366		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:34029205C>T	ENST00000322229.7	-	20	2586	c.2587G>A	c.(2587-2589)Gtt>Att	p.V863I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I|SYNJ1_ENST00000382499.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I			O43426	SYNJ1_HUMAN	synaptojanin 1	863	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATCAGGGCAACGACAGGCCTT	0.343																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(2704-2706)Gtt>Att		synaptojanin 1		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	87	89	88		2704,2704,2572,2587	0.6	0.1	21		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYNJ1	NM_203446.2,NM_003895.3,NM_001160306.1,NM_001160302.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	902/1351,902/1613,858/1527,863/1296	34029205	1,13005	2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34029205C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2587G>A	21.37:g.34029205C>T	ENSP00000322234:p.Val863Ile					SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I	p.V902I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			21	2703	-			863			Pro-rich.|RRM.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2704G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894444	0.17613	0.0	1.16E-4	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.64	0.619	0.17630	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.300212	0.35936	N	0.002881	D	0.86130	0.5859	N	0.25485	0.75	0.80722	D	1	B;B;P;B;P	0.48911	0.041;0.101;0.851;0.001;0.917	B;B;B;B;B	0.39379	0.019;0.025;0.238;0.002;0.298	T	0.80502	-0.1354	10	0.10636	T	0.68	.	9.7779	0.40630	0.0:0.6542:0.0:0.3458	.	858;902;863;863;863	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	858;863;902;902;863	ENSP00000371931:V858I;ENSP00000349903:V863I;ENSP00000371939:V902I;ENSP00000409667:V902I;ENSP00000322234:V863I	ENSP00000322234:V863I	V	-	1	0	SYNJ1	32951076	0.576000	0.26700	0.084000	0.20598	0.994000	0.84299	1.194000	0.32174	-0.164000	0.10927	-0.194000	0.12790	GTT		0.343	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	83	0	0	0	1	0	11	83					T	34029205	C	T	34029205	3	4	455	1	0	0	0	0	1	0	0	0	15449	536	19	1	2207	1	SYNJ1	21	34029205	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		34029205	14100690	34	38022											
KCNJ6	3763	broad.mit.edu	37	chr21	38997768	38997768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactggtgatgtaggagcttCgagcttggcatgtcatccct	12	10	1	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:38997768C>T	ENST00000609713.1	-	4	1554	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	322					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)	GTAGGAGCTTCGAGCTTGGCA	0.527																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(964-966)cGa>cAa		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						68	73	71					21																	38997768		2087	4233	6320	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997768C>T	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.965G>A	21.37:g.38997768C>T	ENSP00000477437:p.Arg322Gln					KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	p.R322Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			4	1554	-			322					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.965G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319286	0.95682	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.94758	-3.51;-3.51	5.99	5.99	0.97316	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96849	0.8971	H	0.94886	3.595	0.80722	D	1	D	0.58970	0.984	P	0.46026	0.501	D	0.97495	1.0056	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	322	P48051	IRK6_HUMAN	Q	322	ENSP00000383330:R322Q;ENSP00000288309:R322Q	ENSP00000288309:R322Q	R	-	2	0	KCNJ6	37919638	1.000000	0.71417	0.819000	0.32651	0.976000	0.68499	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	CGA		0.527	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		24	33	0	0	0	1	0	24	33					T	38997768	C	T	38997768	3	4	455	1	0	0	0	0	1	0	0	0	8055	884	31	1	310	1	KCNJ6	21	38997768	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	4968563	38997768	9132127	35	38023											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044141	51044141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgcccatgcggtgcccGgccctgccaaggacctgctg	12	17	1	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr22:51044141G>A	ENST00000399908.2	+	5	1911	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	665	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGGTGCCCGGCCCTGCCAA	0.672																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1195-1197)Ggc>Agc		mitogen-activated protein kinase 8 interacting protein 2							31	37	35					22																	51044141		2084	4206	6290	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51044141G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1195G>A	22.37:g.51044141G>A	ENSP00000382792:p.Gly399Ser					MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S	p.G399S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1911	+		all_cancers(38;8.8e-15)|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)	665					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1195G>A		.	.	.	.	.	.	.	.	.	.	G	16.09	3.023016	0.54683	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.27890	2.64;2.64;2.64;2.64;2.64;1.64	5.15	5.15	0.70609	Src homology-3 domain (2);	0.052231	0.85682	D	0.000000	T	0.41143	0.1146	.	.	.	0.49915	D	0.999835	D;D	0.89917	1.0;1.0	P;P	0.61070	0.883;0.746	T	0.05225	-1.0898	9	0.18276	T	0.48	-14.2784	11.0972	0.48152	0.0:0.0:0.8155:0.1845	.	637;665	E7EQG6;Q13387	.;JIP2_HUMAN	S	399;664;387;285;399;370	ENSP00000382796:G399S;ENSP00000330572:G664S;ENSP00000404914:G387S;ENSP00000340015:G285S;ENSP00000382792:G399S;ENSP00000008876:G370S	ENSP00000008876:G370S	G	+	1	0	MAPK8IP2	49391007	0.962000	0.33011	0.949000	0.38748	0.192000	0.23643	1.649000	0.37281	2.686000	0.91538	0.650000	0.86243	GGC		0.672	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		4	28	0	0	0	1	0	4	28					A	51044141	G	A	51044141	3	1	455	1	0	0	0	0	1	0	0	0	9285	1116	39	1	2108	1	MAPK8IP2	22	51044141	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		51044141	260425	36	38024											
MIB2	142678	broad.mit.edu	37	chr1	1564066	1564067	+	Frame_Shift_Ins	INS	-	-	G													ccctggtggctgatggggccINSgggggggacccagggccctt							TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:1564066_1564067insG	ENST00000357210.4	+	16	2556_2557	c.2340_2341insG	c.(2341-2343)gggfs	p.G781fs	MIB2_ENST00000360522.4_Frame_Shift_Ins_p.G746fs|MIB2_ENST00000378710.3_Frame_Shift_Ins_p.G745fs|MIB2_ENST00000378708.1_Frame_Shift_Ins_p.G687fs|MIB2_ENST00000518681.1_Frame_Shift_Ins_p.G773fs|MIB2_ENST00000378712.1_Frame_Shift_Ins_p.G658fs|MIB2_ENST00000504599.1_Frame_Shift_Ins_p.G737fs|MIB2_ENST00000355826.5_Frame_Shift_Ins_p.G824fs|MIB2_ENST00000505820.2_Frame_Shift_Ins_p.G838fs|MIB2_ENST00000520777.1_Frame_Shift_Ins_p.G834fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	781					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGATGGGGCCGGGGGGGACCC	0.713																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2338-2343)gcggggfs		mindbomb E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1564066_1564067insG	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2347dupG	1.37:g.1564073_1564073dupG	ENSP00000349741:p.Gly781fs					MIB2_ENST00000378708.1_Frame_Shift_Ins_p.AG686fs|MIB2_ENST00000518681.1_Frame_Shift_Ins_p.AG772fs|MIB2_ENST00000355826.5_Frame_Shift_Ins_p.AG823fs|MIB2_ENST00000505820.2_Frame_Shift_Ins_p.AG837fs|MIB2_ENST00000378710.3_Frame_Shift_Ins_p.AG744fs|MIB2_ENST00000504599.1_Frame_Shift_Ins_p.AG736fs|MIB2_ENST00000520777.1_Frame_Shift_Ins_p.AG833fs|MIB2_ENST00000378712.1_Frame_Shift_Ins_p.AG657fs|MIB2_ENST00000360522.4_Frame_Shift_Ins_p.AG745fs	p.AG780fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	16	2556_2557	+	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;6.04e-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)	780					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Frame_Shift_Ins	INS	ENST00000357210.4	37	c.2340_2341insG																																																																																					0.713	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		4	7						4	7	---	---	---	---	G	1564067	-	G	1564066	7	5	456	1	0	1	1	0	0	0	0	0	9567	639	23	0	2573	0	MIB2	1	1564066	Frame_Shift_Ins	INS	-	TCGA-S9-A7R7-01A-11D-A34J-08		1564066	247686555	1	38025											
GBP5	115362	broad.mit.edu	37	chr1	89729445	89729445	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttccgaggctcccgatAgtactttgccttcagttctt	7	13	2	0			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:89729445A>G	ENST00000370459.3	-	8	1463	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Missense_Mutation_p.Y446H|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	446						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCTCCCGATAGTACTTTGCC	0.428																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1336-1338)Tat>Cat		guanylate binding protein 5							164	157	159					1																	89729445		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729445A>G	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1336T>C	1.37:g.89729445A>G	ENSP00000359488:p.Tyr446His					GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.Y446H|RP4-620F22.2_ENST00000437128.1_RNA	p.Y446H	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1872	-			446					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1336T>C	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	8.111	0.778869	0.16120	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.01981	4.52;4.52;4.52	4.94	-0.342	0.12635	Guanylate-binding protein, C-terminal (3);	0.946463	0.08899	N	0.877462	T	0.00695	0.0023	L	0.50333	1.59	0.21184	N	0.999764	B	0.13145	0.007	B	0.22152	0.038	T	0.47071	-0.9145	10	0.15499	T	0.54	-1.7092	3.1256	0.06406	0.4047:0.0:0.1816:0.4137	.	446	Q96PP8	GBP5_HUMAN	H	446	ENSP00000340396:Y446H;ENSP00000359488:Y446H;ENSP00000403010:Y446H	ENSP00000340396:Y446H	Y	-	1	0	GBP5	89502033	0.026000	0.19158	0.734000	0.30879	0.626000	0.37791	-0.085000	0.11250	0.131000	0.18576	0.450000	0.29827	TAT		0.428	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		60	145	0	0	0	1	0	60	145					G	89729445	A	G	89729445	3	3	456	1	0	0	0	0	1	0	0	0	6277	420	15	3	440	3	GBP5	1	89729445	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	88165379	89729445	159521176	2	38026											
MNDA	4332	broad.mit.edu	37	chr1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtactgaaagcaacagCgccatttaaatacgagtccc	10	10	0	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	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)					AAAGCAACAGCGCCATTTAAA	0.468																																						ENST00000368141.4																			0				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						c.(661-663)gCg>gTg		myeloid cell nuclear differentiation antigen							84	80	81					1																	158815468		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815468C>T	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.662C>T	1.37:g.158815468C>T	ENSP00000357123:p.Ala221Val						p.A221V	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	923	+	all_hematologic(112;0.0378)		221			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.662C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923598	0.33908	.	.	ENSG00000163563	ENST00000368141	T	0.30714	1.52	4.15	-1.34	0.09143	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	2.029340	0.02979	N	0.145397	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	B	0.37267	0.245	T	0.14531	-1.0469	10	0.62326	D	0.03	-0.0145	6.3415	0.21324	0.3727:0.5266:0.1008:0.0	.	221	P41218	MNDA_HUMAN	V	221	ENSP00000357123:A221V	ENSP00000357123:A221V	A	+	2	0	MNDA	157082092	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.375000	0.20518	-0.338000	0.08413	-0.266000	0.10368	GCG		0.468	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		22	59	0	0	0	1	0	22	59					T	158815468	C	T	158815468	3	4	456	1	0	0	0	0	1	0	0	0	9676	768	27	1	676	1	MNDA	1	158815468	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	69086023	158815468	90435153	3	38027											
BRE	9577	broad.mit.edu	37	chr2	28521236	28521236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttttccctcgagaccaGccaactctcacatttcagtc	5	15	2	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:28521236G>A	ENST00000342045.2	+	12	1107	c.966G>A	c.(964-966)caG>caA	p.Q322Q	BRE_ENST00000361704.2_Silent_p.Q322Q|BRE_ENST00000379632.2_Silent_p.Q322Q|BRE_ENST00000379624.1_Silent_p.Q322Q|BRE_ENST00000344773.2_Silent_p.Q322Q	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CTCGAGACCAGCCAACTCTCA	0.408																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(964-966)caG>caA		brain and reproductive organ-expressed (TNFRSF1A modulator)							197	202	200					2																	28521236		2203	4300	6503	SO:0001819	synonymous_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521236G>A	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.966G>A	2.37:g.28521236G>A						BRE_ENST00000342045.2_Silent_p.Q322Q|BRE_ENST00000379624.1_Silent_p.Q322Q|BRE_ENST00000379632.2_Silent_p.Q322Q|BRE_ENST00000361704.2_Silent_p.Q322Q	p.Q322Q	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			11	1104	+	Acute lymphoblastic leukemia(172;0.155)		322			UEV-like 2.			Silent	SNP	ENST00000342045.2	37	c.966G>A	CCDS1763.1																																																																																				0.408	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			5	285	0	0	0	1	0	5	285					A	28521236	G	A	28521236	2	1	456	1	0	0	0	0	0	0	0	1	1509	962	34	2		2	BRE	2	28521236	Silent	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		28521236	214678137	4	38028											
CEBPZ	10153	broad.mit.edu	37	chr2	37439481	37439481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagaagtatgttacccaGcaaaatccatatcatccttt	5	9	1	2			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:37439481G>A	ENST00000234170.5	-	11	2745	c.2600C>T	c.(2599-2601)gCt>gTt	p.A867V	AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	867					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATGTTACCCAGCAAAATCCAT	0.378																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2599-2601)gCt>gTt		CCAAT/enhancer binding protein (C/EBP), zeta							128	127	128					2																	37439481		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37439481G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2600C>T	2.37:g.37439481G>A	ENSP00000234170:p.Ala867Val					AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	p.A867V	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			11	2745	-		all_hematologic(82;0.21)	867					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2600C>T	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.991055	0.54041	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.15487	2.42	5.14	4.26	0.50523	.	0.050948	0.85682	D	0.000000	T	0.22704	0.0548	M	0.78637	2.42	0.49582	D	0.999805	B	0.27351	0.176	B	0.25291	0.059	T	0.06180	-1.0841	10	0.87932	D	0	.	11.2625	0.49091	0.0837:0.0:0.9163:0.0	.	867	Q03701	CEBPZ_HUMAN	V	867	ENSP00000234170:A867V	ENSP00000234170:A867V	A	-	2	0	CEBPZ	37292985	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	4.349000	0.59385	1.535000	0.49220	0.655000	0.94253	GCT		0.378	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		4	142	0	0	0	1	0	4	142					A	37439481	G	A	37439481	3	1	456	1	0	0	0	0	1	0	0	0	3204	971	34	2	588	2	CEBPZ	2	37439481	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	8918245	37439481	205759892	5	38029											
PGAP1	80055	broad.mit.edu	37	chr2	197761856	197761856	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttaaaaatacatactTgtttagtatcagcatcaata	4	5	2	0			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:197761856T>C	ENST00000354764.4	-	7	1040	c.926A>G	c.(925-927)cAa>cGa	p.Q309R	PGAP1_ENST00000409188.1_Splice_Site_p.Q267R|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Splice_Site_p.Q309R	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	309					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						AATACATACTTGTTTAGTATC	0.254																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.e7+1		post-GPI attachment to proteins 1							27	27	27					2																	197761856		2185	4273	6458	SO:0001630	splice_region_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197761856T>C		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.927+1A>G	2.37:g.197761856T>C						PGAP1_ENST00000409188.1_Splice_Site_p.Q267_splice|PGAP1_ENST00000409475.1_Splice_Site_p.Q309_splice|PGAP1_ENST00000485830.1_5'UTR	p.Q309_splice	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			7	1040	-			309					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Splice_Site	SNP	ENST00000354764.4	37	c.927_splice	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.724611	0.68959	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	.	.	.	4.65	4.65	0.58169	.	0.058753	0.64402	D	0.000001	T	0.63117	0.2484	L	0.27053	0.805	0.49130	D	0.999754	D;D;D	0.89917	0.959;1.0;0.993	B;D;D	0.87578	0.425;0.998;0.979	T	0.65138	-0.6241	9	0.51188	T	0.08	-9.8049	12.7315	0.57201	0.0:0.0:0.0:1.0	.	267;309;309	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	R	89;309;309;267;89	.	ENSP00000346809:Q309R	Q	-	2	0	PGAP1	197470101	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.068000	0.64364	2.082000	0.62665	0.460000	0.39030	CAA		0.254	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	Missense_Mutation	32	91	0	0	0	1	0	32	91					C	197761856	T	C	197761856	5	2	456	1	0	0	0	0	0	0	1	0	11777	1826	63	3	1926	3	PGAP1	2	197761856	Splice_Site	SNP	T	TCGA-S9-A7R7-01A-11D-A34J-08	160322375	197761856	45437517	6	38030											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	78	0	0	0	1	0	26	78					T	209113112	C	T	209113112	3	4	456	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	11351256	209113112	34086261	7	38031											
OSBPL10	114884	broad.mit.edu	37	chr3	31725336	31725336	+	Frame_Shift_Del	DEL	G	G	-													gtgacagctggcaggagagcGggaagcagtcctcttaggct					rs373888777		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:31725336delG	ENST00000396556.2	-	8	1638	c.1516delC	c.(1516-1518)cgcfs	p.R506fs	OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R442fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	506					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCAGGAGAGCGGGAAGCAGTC	0.542																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1516-1518)gcfs		oxysterol binding protein-like 10							127	117	120					3																	31725336		2203	4300	6503	SO:0001589	frameshift_variant	114884				lipid transport		lipid binding	g.chr3:31725336delG	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1516delC	3.37:g.31725336delG	ENSP00000379804:p.Arg506fs					OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R442fs	p.R506fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	8	1638	-			506					B4E212|Q9BTU5	Frame_Shift_Del	DEL	ENST00000396556.2	37	c.1516delC	CCDS2651.1																																																																																				0.542	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			36	89						36	89	---	---	---	---	-	31725336	G	-	31725336	7	5	456	1	0	1	0	1	0	0	0	0	11275	1116	39	0	798	0	OSBPL10	3	31725336	Frame_Shift_Del	DEL	G	TCGA-S9-A7R7-01A-11D-A34J-08		31725336	166297094	8	38032											
CAMKV	79012	broad.mit.edu	37	chr3	49899247	49899247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggaagataaagtactcCttgcgggtcacaaacacatc	8	11	1	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:49899247C>T	ENST00000477224.1	-	4	757	c.279G>A	c.(277-279)aaG>aaA	p.K93K	CAMKV_ENST00000467248.1_Silent_p.K18K|CAMKV_ENST00000463537.1_Silent_p.K93K|CAMKV_ENST00000466940.1_Silent_p.K93K|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000488336.1_Silent_p.K93K|CAMKV_ENST00000296471.7_Silent_p.K93K|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAAAGTACTCCTTGCGGGTCA	0.582																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(277-279)aaG>aaA		CaM kinase-like vesicle-associated							59	57	58					3																	49899247		2203	4300	6503	SO:0001819	synonymous_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899247C>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.279G>A	3.37:g.49899247C>T						CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000463537.1_Silent_p.K93K|CAMKV_ENST00000488336.1_Silent_p.K93K|CAMKV_ENST00000296471.7_Silent_p.K93K|CAMKV_ENST00000467248.1_Silent_p.K18K|CAMKV_ENST00000466940.1_Silent_p.K93K	p.K93K			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	757	-			93			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	c.279G>A	CCDS33762.1																																																																																				0.582	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		24	65	0	0	0	1	0	24	65					T	49899247	C	T	49899247	2	4	456	1	0	0	0	0	0	0	0	1	2608	680	24	2		2	CAMKV	3	49899247	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	18173911	49899247	148123183	9	38033											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	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						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	66	0	0	0	1	0	26	66					G	178952085	A	G	178952085	3	3	456	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	129052838	178952085	19070345	10	38034											
TULP1	7287	broad.mit.edu	37	chr6	35466203	35466203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagggtgaaggcgtcctcCgccacgcggccgaactgcag	14	14	1	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:35466203C>T	ENST00000229771.6	-	15	1609	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	TULP1_ENST00000322263.4_Silent_p.A457A|TEAD3_ENST00000402886.3_5'Flank|TEAD3_ENST00000338863.7_5'Flank	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	510					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						AGGCGTCCTCCGCCACGCGGC	0.662																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1528-1530)gcG>gcA		tubby like protein 1							48	47	47					6																	35466203		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35466203C>T	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.1530G>A	6.37:g.35466203C>T						TULP1_ENST00000322263.4_Silent_p.A457A	p.A510A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			15	1609	-			510					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.1530G>A	CCDS4807.1																																																																																				0.662	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			7	32	0	0	0	1	0	7	32					T	35466203	C	T	35466203	2	4	456	1	0	0	0	0	0	0	0	1	16770	639	23	1		1	TULP1	6	35466203	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		35466203	135648864	11	38035											
UTRN	7402	broad.mit.edu	37	chr6	144820553	144820553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacttggatacagaaatttCctgggctaaagtaagttgca	10	6	0	2			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:144820553C>T	ENST00000367545.3	+	33	4754	c.4754C>T	c.(4753-4755)tCc>tTc	p.S1585F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1585	Interaction with SYNM.				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)		ACAGAAATTTCCTGGGCTAAA	0.473																																						ENST00000367545.3																			0				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						c.(4753-4755)tCc>tTc		utrophin							73	66	68					6																	144820553		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144820553C>T	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.4754C>T	6.37:g.144820553C>T	ENSP00000356515:p.Ser1585Phe						p.S1585F	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	33	4754	+		Ovarian(120;0.218)	1585			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4754C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879637	0.72294	.	.	ENSG00000152818	ENST00000367545	T	0.51817	0.69	5.79	4.92	0.64577	.	0.424586	0.19718	N	0.107656	T	0.42966	0.1226	L	0.34521	1.04	0.80722	D	1	P	0.48911	0.917	P	0.54759	0.76	T	0.49380	-0.8946	10	0.72032	D	0.01	.	16.8957	0.86099	0.0:0.8718:0.1282:0.0	.	1585	P46939	UTRO_HUMAN	F	1585	ENSP00000356515:S1585F	ENSP00000356515:S1585F	S	+	2	0	UTRN	144862246	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.011000	0.40922	1.431000	0.47355	-0.176000	0.13171	TCC		0.473	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			23	50	0	0	0	1	0	23	50					T	144820553	C	T	144820553	3	4	456	1	0	0	0	0	1	0	0	0	17100	855	30	2	4884	2	UTRN	6	144820553	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	109354350	144820553	26294514	12	38036											
SLC13A1	6561	broad.mit.edu	37	chr7	122763178	122763178	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatcttacacacagagtattAcctcacaaccatctgccagg	5	13	3	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr7:122763178A>T	ENST00000194130.2	-	12	1390		c.e12+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAGAGTATTACCTCACAACC	0.403																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.e12+1		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						122	119	120					7																	122763178		2203	4300	6503	SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122763178A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1350+1T>A	7.37:g.122763178A>T						SLC13A1_ENST00000539873.1_Splice_Site		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			12	1390	-								Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37		CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320818	0.81469	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2769	0.73748	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122550414	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.819000	0.75262	2.203000	0.70933	0.482000	0.46254	.		0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	43	98	0	0	0	1	0	43	98					T	122763178	A	T	122763178	5	4	456	1	0	0	0	0	0	0	1	0	14391	405	14	5	451	5	SLC13A1	7	122763178	Splice_Site	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08		122763178	36375485	13	38037											
USP20	10868	broad.mit.edu	37	chr9	132620353	132620353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccctatgttggctgcGgagaatcctttgctgaccac	10	14	0	2			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr9:132620353G>A	ENST00000315480.4	+	5	318	c.160G>A	c.(160-162)Gga>Aga	p.G54R	USP20_ENST00000358355.1_Missense_Mutation_p.G54R|USP20_ENST00000372429.3_Missense_Mutation_p.G54R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	54					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)				TGTTGGCTGCGGAGAATCCTT	0.562																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(160-162)Gga>Aga		ubiquitin specific peptidase 20							165	167	167					9																	132620353		2086	4215	6301	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132620353G>A	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.160G>A	9.37:g.132620353G>A	ENSP00000313811:p.Gly54Arg					USP20_ENST00000358355.1_Missense_Mutation_p.G54R|USP20_ENST00000372429.3_Missense_Mutation_p.G54R	p.G54R			Q9Y2K6	UBP20_HUMAN			5	318	+		Ovarian(14;0.00556)	54					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.160G>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464342	0.84425	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.55760	0.5;0.5;0.5	5.13	5.13	0.70059	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85946	0.1461	10	0.87932	D	0	.	17.561	0.87908	0.0:0.0:1.0:0.0	.	54	Q9Y2K6	UBP20_HUMAN	R	54	ENSP00000361506:G54R;ENSP00000313811:G54R;ENSP00000351122:G54R	ENSP00000313811:G54R	G	+	1	0	USP20	131660174	1.000000	0.71417	0.969000	0.41365	0.352000	0.29268	9.544000	0.98092	2.374000	0.81015	0.561000	0.74099	GGA		0.562	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			47	86	0	0	0	1	0	47	86					A	132620353	G	A	132620353	3	1	456	1	0	0	0	0	1	0	0	0	17049	1117	39	1	170	1	USP20	9	132620353	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		132620353	8593078	14	38038											
OR4C46	119749	broad.mit.edu	37	chr11	51515455	51515455	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactggggtcccccatgtaCctttccctggcctatctctc	7	17	2	0			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:51515455C>A	ENST00000328188.1	+	1	174	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCCCCATGTACCTTTCCCTGG	0.458																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(172-174)taC>taA		olfactory receptor, family 4, subfamily C, member 46							236	229	231					11																	51515455		2201	4296	6497	SO:0001587	stop_gained	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515455C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.174C>A	11.37:g.51515455C>A	ENSP00000329056:p.Tyr58*						p.Y58*	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	174	+			58						Nonsense_Mutation	SNP	ENST00000328188.1	37	c.174C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.359	0.251510	0.10130	.	.	ENSG00000185926	ENST00000328188	.	.	.	2.63	-0.602	0.11634	.	0.000000	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8114	0.23807	0.0:0.6354:0.0:0.3646	.	.	.	.	X	58	.	ENSP00000329056:Y58X	Y	+	3	2	OR4C46	51372031	0.995000	0.38212	0.882000	0.34594	0.020000	0.10135	0.493000	0.22451	-0.251000	0.09542	-1.368000	0.01194	TAC		0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		62	160	1	0	3.33906e-19	1	3.51029e-19	62	160					A	51515455	C	A	51515455	4	1	456	1	0	0	0	0	0	1	0	0	11051	518	18	4	176	4	OR4C46	11	51515455	Nonsense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		51515455	83491061	15	38039											
MAP6	4135	broad.mit.edu	37	chr11	75298872	75298872	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaggaccttgatcctttagAgactctggtaccacagagcc	9	12	1	3			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:75298872A>T	ENST00000304771.3	-	4	2424	c.1674T>A	c.(1672-1674)tcT>tcA	p.S558S	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.S229S	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	558	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GATCCTTTAGAGACTCTGGTA	0.502																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1672-1674)tcT>tcA		microtubule-associated protein 6							123	122	122					11																	75298872		2200	4293	6493	SO:0001819	synonymous_variant	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298872A>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1674T>A	11.37:g.75298872A>T						MAP6_ENST00000526740.1_Silent_p.S229S|CTD-2530H12.4_ENST00000527803.1_RNA	p.S558S	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2424	-	Ovarian(111;0.11)		558			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	ENST00000304771.3	37	c.1674T>A	CCDS31641.1																																																																																				0.502	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		47	101	0	0	0	1	0	47	101					T	75298872	A	T	75298872	2	4	456	1	0	0	0	0	0	0	0	1	9264	291	11	5		5	MAP6	11	75298872	Silent	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	23783417	75298872	59707644	16	38040											
ST8SIA1	6489	broad.mit.edu	37	chr12	22440124	22440129	+	In_Frame_Del	DEL	AGTATA	AGTATA	-													tgaattgtcaatggtgaatgAgtataaaaactccccgtcat							TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:22440124_22440129delAGTATA	ENST00000396037.4	-	2	816_821	c.335_340delTATACT	c.(334-342)ttatactca>tca	p.LY112del	ST8SIA1_ENST00000539510.1_In_Frame_Del_p.YT6del	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	112					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGTGAATGAGTATAAAAACTCCCC	0.413																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(334-342)tca>t		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1																																				SO:0001651	inframe_deletion	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22440124_22440129delAGTATA	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"Sialyltransferases"	10869	protein-coding gene	gene with protein product	"ST8Sia I"	601123	"sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.335_340delTATACT	12.37:g.22440124_22440129delAGTATA	ENSP00000379353:p.Leu112_Tyr113del					ST8SIA1_ENST00000539510.1_In_Frame_Del_p.YT6del	p.LYS112del	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			2	816_821	-			112					A8K4H6|Q17RL0|Q6PZN5|Q93064	In_Frame_Del	DEL	ENST00000396037.4	37	c.335_340delTATACT	CCDS8697.1																																																																																				0.413	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		18	43						18	43	---	---	---	---	-	22440129	AGTATA	-	22440124	7	5	456	1	0	1	0	1	0	0	0	0	15230	304	11	0	746	0	ST8SIA1	12	22440124	In_Frame_Del	DEL	AGTATA	TCGA-S9-A7R7-01A-11D-A34J-08		22440124	111411771	17	38041											
LMBR1L	55716	broad.mit.edu	37	chr12	49494380	49494380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctgggccgcaggctccGgaagagtggagagctataga	15	10	1	3	rs201126566		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:49494380G>A	ENST00000267102.8	-	14	1474	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R358W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R373W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	378					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						CGCAGGCTCCGGAAGAGTGGA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		17771	0.001		0.0	False		,,,				2504	0.0					ENST00000267102.8																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1132-1134)Cgg>Tgg		limb development membrane protein 1-like							48	45	46					12																	49494380		2203	4300	6503	SO:0001583	missense	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49494380G>A	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.1132C>T	12.37:g.49494380G>A	ENSP00000267102:p.Arg378Trp					LMBR1L_ENST00000547382.1_Missense_Mutation_p.R358W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R373W	p.R378W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN			14	1474	-			378					Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	c.1132C>T	CCDS8780.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.62	3.172618	0.57584	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547698;ENST00000395141	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.54	-3.16	0.05217	LMBR1-like membrane protein (1);	0.450467	0.25161	N	0.032679	T	0.19525	0.0469	L	0.38175	1.15	0.26627	N	0.972535	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.10450	0.001;0.005;0.0	T	0.09037	-1.0693	10	0.62326	D	0.03	.	1.3556	0.02182	0.2103:0.127:0.2167:0.446	.	358;378;373	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	W	378;358;68;373	ENSP00000267102:R378W;ENSP00000447329:R358W;ENSP00000448821:R68W;ENSP00000378573:R373W	ENSP00000267102:R378W	R	-	1	2	LMBR1L	47780647	0.094000	0.21725	0.849000	0.33467	0.996000	0.88848	0.315000	0.19451	-0.408000	0.07565	0.650000	0.86243	CGG		0.562	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		3	31	0	0	0	1	0	3	31					A	49494380	G	A	49494380	3	1	456	1	0	0	0	0	1	0	0	0	8841	1115	39	1	353	1	LMBR1L	12	49494380	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	27054256	49494380	84357515	18	38042											
FAM164C	79696	broad.mit.edu	37	chr14	75538368	75538368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggtgctttgcagggatcCgccagaaattccagcctgtc	12	12	0	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr14:75538368C>T	ENST00000524913.1	+	2	1581	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Silent_p.S364S|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	364							metal ion binding (GO:0046872)										TGCAGGGATCCGCCAGAAATT	0.547																																						ENST00000524913.1																			0											c.(1090-1092)tcC>tcT		zinc finger, C2HC-type containing 1C							34	36	35					14																	75538368		1953	4152	6105	SO:0001819	synonymous_variant	79696							g.chr14:75538368C>T	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"Zinc fingers, C2HC-type containing"	20354	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 140", "family with sequence similarity 164, member C"	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.1092C>T	14.37:g.75538368C>T						ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Silent_p.S364S	p.S364S	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN			2	1581	+			0					E9PJQ0|Q9BTA8|Q9H5S9	Silent	SNP	ENST00000524913.1	37	c.1092C>T	CCDS41972.1																																																																																				0.547	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		16	54	0	0	0	1	0	16	54					T	75538368	C	T	75538368	2	4	456	1	0	0	0	0	0	0	0	1	5479	639	23	1		1	FAM164C	14	75538368	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		75538368	31811172	19	38043											
OCA2	4948	broad.mit.edu	37	chr15	28326921	28326921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggaagcctgcgcttgcCggccacaagttcagcgagtc	13	14	1	0	rs367553582		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr15:28326921C>T	ENST00000354638.3	-	2	255	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	OCA2_ENST00000353809.5_Missense_Mutation_p.G34S|OCA2_ENST00000382996.2_Missense_Mutation_p.G34S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	34					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCGCTTGCCGGCCACAAGT	0.721									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(100-102)Ggc>Agc		oculocutaneous albinism II		C	SER/GLY	0,4402		0,0,2201	15	17	16		100	-0.9	0	15		16	2,8594		0,2,4296	no	missense	OCA2	NM_000275.2	56	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign	34/839	28326921	2,12996	2201	4298	6499	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326921C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.100G>A	15.37:g.28326921C>T	ENSP00000346659:p.Gly34Ser					OCA2_ENST00000353809.5_Missense_Mutation_p.G34S|OCA2_ENST00000382996.2_Missense_Mutation_p.G34S	p.G34S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	255	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	34					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.100G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217541	0.06101	0.0	2.33E-4	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.91894	-2.44;-2.41;-2.41;-2.93;-1.81	2.8	-0.864	0.10666	.	0.921828	0.09126	N	0.845036	T	0.74176	0.3682	N	0.01705	-0.755	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.06405	0.002;0.0	T	0.63332	-0.6661	10	0.10636	T	0.68	0.342	5.7448	0.18114	0.0:0.4387:0.0:0.5613	.	34;34	Q04671-2;Q04671	.;P_HUMAN	S	34	ENSP00000346659:G34S;ENSP00000261276:G34S;ENSP00000372457:G34S;ENSP00000414425:G34S;ENSP00000415431:G34S	ENSP00000261276:G34S	G	-	1	0	OCA2	26000516	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.642000	0.05427	-0.185000	0.10550	-0.484000	0.04775	GGC		0.721	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		10	21	0	0	0	1	0	10	21					T	28326921	C	T	28326921	3	4	456	1	0	0	0	0	1	0	0	0	10815	652	23	1	2508	1	OCA2	15	28326921	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		28326921	74204471	20	38044											
USP6	9098	broad.mit.edu	37	chr17	5048779	5048779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaagatctcaagtcaaatGcaagacatgtgggcatataa	9	7	2	2			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:5048779G>A	ENST00000574788.1	+	27	4302	c.2072G>A	c.(2071-2073)tGc>tAc	p.C691Y	USP6_ENST00000332776.4_Missense_Mutation_p.C691Y|USP6_ENST00000304328.5_Missense_Mutation_p.C374Y|USP6_ENST00000250066.6_Missense_Mutation_p.C691Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	691	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						CAAGTCAAATGCAAGACATGT	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				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						c.(2071-2073)tGc>tAc		ubiquitin specific peptidase 6 (Tre-2 oncogene)							135	120	125					17																	5048779		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048779G>A	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.2072G>A	17.37:g.5048779G>A	ENSP00000460380:p.Cys691Tyr					USP6_ENST00000304328.5_Missense_Mutation_p.C374Y|USP6_ENST00000332776.4_Missense_Mutation_p.C691Y|USP6_ENST00000250066.6_Missense_Mutation_p.C691Y	p.C691Y			P35125	UBP6_HUMAN			27	4302	+			691					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2072G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000655	0.54254	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.48201	0.82;3.44;3.44	2.36	2.36	0.29203	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.79497	-0.1779	10	0.87932	D	0	.	10.4264	0.44380	0.0:0.0:1.0:0.0	.	374;691	P35125-2;P35125	.;UBP6_HUMAN	Y	691;691;374	ENSP00000328010:C691Y;ENSP00000250066:C691Y;ENSP00000305473:C374Y	ENSP00000250066:C691Y	C	+	2	0	USP6	4989503	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	9.516000	0.98017	1.318000	0.45170	0.194000	0.17425	TGC		0.388	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		57	136	0	0	0	1	0	57	136					A	5048779	G	A	5048779	3	1	456	1	0	0	0	0	1	0	0	0	17083	1319	46	2	2142	2	USP6	17	5048779	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		5048779	76146431	21	38045											
TP53	7157	broad.mit.edu	37	chr17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-													ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc							TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577105delG	ENST00000269305.4	-	8	1022	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(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)	GTCTCTCCCAGGACAGGCACA	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(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	GRCh37	CM961376	TP53	M		c.(832-834)ctfs	Other conserved DNA damage response genes	tumor protein p53							72	63	66					17																	7577105		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577105delG	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.833delC	17.37:g.7577105delG	ENSP00000269305:p.Pro278fs	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs	p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	965	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.833delC	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	31						11	31	---	---	---	---	-	7577105	G	-	7577105	7	5	456	1	0	1	0	1	0	0	0	0	16378	1000	35	0	453	0	TP53	17	7577105	Frame_Shift_Del	DEL	G	TCGA-S9-A7R7-01A-11D-A34J-08	2528326	7577105	73618105	22	38046											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	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	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	50	0	0	0	1	0	24	50					T	7577538	C	T	7577538	3	4	456	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	433	7577538	73617672	23	38047											
CDC27	996	broad.mit.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C													gagtagatctccatgccttcAactctataattctcaatcct					rs62075659		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																						ENST00000066544.3																			2	Substitution - coding silent(2)	p.V533V(1)|p.V539V(1)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1597-1599)gtT>gtG		cell division cycle 27							36	40	39					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216210A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C						CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V	p.V533V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			13	1692	-			533					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1599T>G	CCDS11509.1																																																																																				0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	96	0	0	0	1	0	4	96					C	45216210	A	C	45216210	2	2	456	1	0	0	0	0	0	0	0	1	3066	117	5	5		5	CDC27	17	45216210	Silent	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	37638672	45216210	35979000	24	38048	159	2									
CDC27	996	broad.mit.edu	37	chr17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G													ctccatgccttcaactctatAattctcaatccttctaacct					rs539804101		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1591-1593)Tat>Cat		cell division cycle 27							34	38	37					17																	45216218		2200	4296	6496	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216218A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1591T>C	17.37:g.45216218A>G	ENSP00000066544:p.Tyr531His					CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H|CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H	p.Y531H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			13	1684	-			531					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1591T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197413	0.38806	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.67345	-0.26;-0.26;0.03;-0.26	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056763	0.64402	D	0.000001	T	0.47451	0.1446	N	0.12611	0.24	0.50039	D	0.999841	B;B;B;B	0.23490	0.086;0.034;0.034;0.021	B;B;B;B	0.24394	0.053;0.023;0.023;0.012	T	0.43015	-0.9417	10	0.17832	T	0.49	-16.7975	13.3334	0.60503	1.0:0.0:0.0:0.0	.	470;530;537;531	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	531;537;470;530	ENSP00000066544:Y531H;ENSP00000434614:Y537H;ENSP00000392802:Y470H;ENSP00000437339:Y530H	ENSP00000066544:Y531H	Y	-	1	0	CDC27	42571217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.033000	0.60031	0.528000	0.53228	TAT		0.328	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	95	0	0	0	1	0	4	95					G	45216218	A	G	45216218	3	3	456	1	0	0	0	0	1	0	0	0	3066	362	13	3	911	3	CDC27	17	45216218	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	8	45216218	35978992	25	38049	159	2									
ABCA8	10351	broad.mit.edu	37	chr17	66933164	66933164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatgatatgagtatgTattagtaaaggtgactctta	8	4	2	3			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:66933164T>C	ENST00000269080.2	-	4	531	c.394A>G	c.(394-396)Aca>Gca	p.T132A	ABCA8_ENST00000430352.2_Missense_Mutation_p.T132A|ABCA8_ENST00000586539.1_Missense_Mutation_p.T132A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	132					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TATGAGTATGTATTAGTAAAG	0.363																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(394-396)Aca>Gca		ATP-binding cassette, sub-family A (ABC1), member 8							134	125	128					17																	66933164		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66933164T>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.394A>G	17.37:g.66933164T>C	ENSP00000269080:p.Thr132Ala					ABCA8_ENST00000586539.1_Missense_Mutation_p.T132A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T132A	p.T132A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			4	531	-	Breast(10;4.56e-13)		132					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.394A>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	0.976	-0.698493	0.03279	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.87103	-2.21;-2.21	4.79	2.53	0.30540	.	0.274240	0.25857	N	0.027850	T	0.76069	0.3936	L	0.39514	1.22	0.09310	N	1	B;B;B;B;B	0.26975	0.165;0.02;0.08;0.001;0.009	B;B;B;B;B	0.24006	0.03;0.044;0.05;0.008;0.05	T	0.57888	-0.7733	10	0.16896	T	0.51	.	4.1531	0.10247	0.1782:0.0965:0.0:0.7253	.	71;132;132;132;132	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	A	132;132;71;132	ENSP00000269080:T132A;ENSP00000402814:T132A	ENSP00000269080:T132A	T	-	1	0	ABCA8	64444759	0.076000	0.21285	0.001000	0.08648	0.013000	0.08279	1.270000	0.33086	0.393000	0.25203	-0.344000	0.07964	ACA		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		18	67	0	0	0	1	0	18	67					C	66933164	T	C	66933164	3	2	456	1	0	0	0	0	1	0	0	0	38	1638	57	3	4491	3	ABCA8	17	66933164	Missense_Mutation	SNP	T	TCGA-S9-A7R7-01A-11D-A34J-08	21716946	66933164	14262046	26	38050											
CEACAM7	1087	broad.mit.edu	37	chr19	42187807	42187807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtcattctttgtggcGctgagtagaacgagggtcct	12	9	2	2	rs200263190		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr19:42187807G>A	ENST00000006724.3	-	3	816	c.615C>T	c.(613-615)agC>agT	p.S205S	CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Silent_p.S205S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	205	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTTTGTGGCGCTGAGTAGAA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		18629	0.0		0.001	False		,,,				2504	0.0					ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(613-615)agC>agT		carcinoembryonic antigen-related cell adhesion molecule 7							182	171	175					19																	42187807		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187807G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.615C>T	19.37:g.42187807G>A						CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.S205S	p.S205S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	816	-			205			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.615C>T	CCDS12583.1																																																																																				0.537	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		5	238	0	0	0	1	0	5	238					A	42187807	G	A	42187807	2	1	456	1	0	0	0	0	0	0	0	1	3197	1078	38	1		1	CEACAM7	19	42187807	Silent	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		42187807	16941176	27	38051											
C20orf160	140706	broad.mit.edu	37	chr20	30610578	30610578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacacatccacacctgaacGgccatggctctgcagccgca	8	17	1	1	rs61748626		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr20:30610578G>A	ENST00000300415.8	+	6	1062	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	CCM2L_ENST00000262659.8_Missense_Mutation_p.R350Q			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	350																	ACACCTGAACGGCCATGGCTC	0.577																																						ENST00000300415.8																			0											c.(1048-1050)cGg>cAg		cerebral cavernous malformation 2-like							79	60	66					20																	30610578		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30610578G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1049G>A	20.37:g.30610578G>A	ENSP00000300415:p.Arg350Gln					CCM2L_ENST00000262659.8_Missense_Mutation_p.R350Q	p.R350Q							6	1062	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.1049G>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.588371	0.86851	.	.	ENSG00000101331	ENST00000300415;ENST00000262659;ENST00000452892	T;T;T	0.70986	1.12;-0.53;1.12	5.41	5.41	0.78517	.	0.057087	0.64402	D	0.000001	D	0.83073	0.5175	M	0.74258	2.255	0.41670	D	0.989233	D	0.76494	0.999	D	0.64144	0.922	D	0.85224	0.1028	10	0.72032	D	0.01	-39.2063	17.7483	0.88427	0.0:0.0:1.0:0.0	rs61748626	350	Q9NUG4-2	.	Q	350;350;103	ENSP00000300415:R350Q;ENSP00000262659:R350Q;ENSP00000392448:R103Q	ENSP00000262659:R350Q	R	+	2	0	C20orf160	30074239	1.000000	0.71417	0.944000	0.38274	0.669000	0.39330	5.840000	0.69402	2.536000	0.85505	0.462000	0.41574	CGG		0.577	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		16	26	0	0	0	1	0	16	26					A	30610578	G	A	30610578	3	1	456	1	0	0	0	0	1	0	0	0	2093	1116	39	1	1071	1	C20orf160	20	30610578	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		30610578	32414942	28	38052											
MYT1	4661	broad.mit.edu	37	chr20	62830225	62830225	+	Frame_Shift_Del	DEL	A	A	-													ttgcttgcagatgagcttagAaaatgaagacaagcgagctc							TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr20:62830225delA	ENST00000328439.1	+	3	375	c.11delA	c.(10-12)gaafs	p.E4fs	MYT1_ENST00000360149.4_Frame_Shift_Del_p.E4fs|MYT1_ENST00000536311.1_Frame_Shift_Del_p.E4fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATGAGCTTAGAAAATGAAGAC	0.552																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(10-12)gafs		myelin transcription factor 1							100	99	99					20																	62830225		2203	4300	6503	SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62830225delA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.11delA	20.37:g.62830225delA	ENSP00000327465:p.Glu4fs					MYT1_ENST00000328439.1_Frame_Shift_Del_p.E4fs|MYT1_ENST00000360149.4_Frame_Shift_Del_p.E4fs	p.E4fs			Q01538	MYT1_HUMAN			3	375	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		4					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Del	DEL	ENST00000328439.1	37	c.11delA	CCDS13558.1																																																																																				0.552	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		27	73						27	73	---	---	---	---	-	62830225	A	-	62830225	7	5	456	1	0	1	0	1	0	0	0	0	10106	246	9	0	13	0	MYT1	20	62830225	Frame_Shift_Del	DEL	A	TCGA-S9-A7R7-01A-11D-A34J-08	32219647	62830225	195295	29	38053											
BCOR	54880	broad.mit.edu	37	chrX	39932980	39932981	+	Frame_Shift_Ins	INS	-	-	G													gcgcgggcatgatgaactccINSgctgctgtggtatcgcccag							TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:39932980_39932981insG	ENST00000378444.4	-	4	1846_1847	c.1618_1619insC	c.(1618-1620)cggfs	p.R540fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.R540fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.R540fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.R540fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	540					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						TGATGAACTCCGCTGCTGTGGT	0.594			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(1618-1620)gagfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932980_39932981insG	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.1619dupC	X.37:g.39932981_39932981dupG	ENSP00000367705:p.Arg540fs					BCOR_ENST00000397354.3_Frame_Shift_Ins_p.E540fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.E540fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.E540fs	p.E540fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1980_1981	-			540					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.1618_1619insC	CCDS48093.1																																																																																				0.594	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		39	29						39	29	---	---	---	---	G	39932981	-	G	39932980	7	5	456	1	0	1	1	0	0	0	0	0	1386	652	23	0	3696	0	BCOR	23	39932980	Frame_Shift_Ins	INS	-	TCGA-S9-A7R7-01A-11D-A34J-08		39932980	115337580	30	38054											
ATRX	546	broad.mit.edu	37	chrX	76940000	76940000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattgtggacaactcctttcGaccaaggttgcgtagaatgc	10	9	0	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:76940000G>A	ENST00000373344.5	-	9	962	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R212*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	250	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						AACTCCTTTCGACCAAGGTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(748-750)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						133	126	128					X																	76940000		2203	4294	6497	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940000G>A	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.748C>T	X.37:g.76940000G>A	ENSP00000362441:p.Arg250*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R212*|ATRX_ENST00000480283.1_5'UTR	p.R250*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	962	-			250			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.748C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	37	6.149545	0.97324	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.52	3.71	0.42584	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2234	13.6746	0.62447	0.0:0.0:0.4731:0.5269	.	.	.	.	X	250;212;206	.	ENSP00000362441:R250X	R	-	1	2	ATRX	76826656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.310000	0.33551	0.470000	0.27294	0.513000	0.50165	CGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		99	93	0	0	0	1	0	99	93					A	76940000	G	A	76940000	4	1	456	1	0	0	0	0	0	1	0	0	1208	1066	37	1	6838	1	ATRX	23	76940000	Nonsense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	37007020	76940000	78330560	31	38055											
OR6Y1	391112	broad.mit.edu	37	chr1	158517240	158517240	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcgtaggatgccaccAcaacacaaagaggaatagca	10	10	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:158517240A>G	ENST00000302617.3	-	1	655	c.656T>C	c.(655-657)gTg>gCg	p.V219A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	219						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(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATGCCACCACAACACAAAG	0.552																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(655-657)gTg>gCg		olfactory receptor, family 6, subfamily Y, member 1							110	103	105					1																	158517240		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517240A>G	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.656T>C	1.37:g.158517240A>G	ENSP00000304807:p.Val219Ala						p.V219A	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	655	-	all_hematologic(112;0.0378)		219					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.656T>C	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139825	0.37728	.	.	ENSG00000197532	ENST00000302617	T	0.00198	8.57	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001851	T	0.00210	0.0006	M	0.62266	1.93	0.21527	N	0.99965	D	0.89917	1.0	D	0.91635	0.999	T	0.30060	-0.9991	10	0.87932	D	0	.	8.7552	0.34641	0.914:0.0:0.086:0.0	.	219	Q8NGX8	OR6Y1_HUMAN	A	219	ENSP00000304807:V219A	ENSP00000304807:V219A	V	-	2	0	OR6Y1	156783864	0.679000	0.27596	0.585000	0.28666	0.215000	0.24574	4.012000	0.57131	2.230000	0.72887	0.533000	0.62120	GTG		0.552	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		23	48	0	0	0	1	0	23	48					G	158517240	A	G	158517240	3	3	457	1	0	0	0	0	1	0	0	0	11213	159	6	3	323	3	OR6Y1	1	158517240	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08		158517240	90733381	1	38056											
SLAMF9	89886	broad.mit.edu	37	chr1	159922090	159922090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggatggggcaagaactgAcgttgctgatggggttgttg	18	5	0	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:159922090A>G	ENST00000368093.3	-	3	742	c.626T>C	c.(625-627)gTc>gCc	p.V209A	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAACTGACGTTGCTGAT	0.567																																						ENST00000368093.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(625-627)gTc>gCc		SLAM family member 9							125	119	121					1																	159922090		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159922090A>G	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.626T>C	1.37:g.159922090A>G	ENSP00000357072:p.Val209Ala					SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	p.V209A	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	742	-	all_hematologic(112;0.093)		209			Ig-like C2-type.		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.626T>C	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	A	1.740	-0.491838	0.04322	.	.	ENSG00000162723	ENST00000368093	T	0.19669	2.13	4.47	2.12	0.27331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.774840	0.02505	N	0.090880	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31724	-0.9933	9	.	.	.	-14.9675	6.1065	0.20077	0.7921:0.0:0.2079:0.0	.	209	Q96A28	SLAF9_HUMAN	A	209	ENSP00000357072:V209A	.	V	-	2	0	SLAMF9	158188714	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.415000	0.07106	0.248000	0.21435	-0.297000	0.09499	GTC		0.567	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		41	58	0	0	0	1	0	41	58					G	159922090	A	G	159922090	3	3	457	1	0	0	0	0	1	0	0	0	14371	275	10	3	251	3	SLAMF9	1	159922090	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	1404850	159922090	89328531	2	38057											
GPR52	9293	broad.mit.edu	37	chr1	174417494	174417494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagctatttcattcagaCgatggcatatgctgatcttt	7	9	3	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:174417494C>T	ENST00000367685.2	+	1	283	c.245C>T	c.(244-246)aCg>aTg	p.T82M	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	82					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTCATTCAGACGATGGCATAT	0.428																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(244-246)aCg>aTg		G protein-coupled receptor 52							264	245	251					1																	174417494		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417494C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.245C>T	1.37:g.174417494C>T	ENSP00000356658:p.Thr82Met					RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	p.T82M	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	283	+			82					O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.245C>T	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667777	0.67814	.	.	ENSG00000203737	ENST00000367685	T	0.36878	1.23	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.56863	0.2014	L	0.47716	1.5	0.47584	D	0.999462	D	0.89917	1.0	D	0.83275	0.996	T	0.56992	-0.7887	10	0.87932	D	0	-6.0669	19.7962	0.96484	0.0:1.0:0.0:0.0	.	82	Q9Y2T5	GPR52_HUMAN	M	82	ENSP00000356658:T82M	ENSP00000356658:T82M	T	+	2	0	GPR52	172684117	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	7.416000	0.80143	2.675000	0.91044	0.650000	0.86243	ACG		0.428	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		5	242	0	0	0	1	0	5	242					T	174417494	C	T	174417494	3	4	457	1	0	0	0	0	1	0	0	0	6698	536	19	1	247	1	GPR52	1	174417494	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	14495404	174417494	74833127	3	38058											
RASAL2	9462	broad.mit.edu	37	chr1	178427190	178427190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccttcagcccttgtcGttccagaaccctgtctatca	9	14	3	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:178427190G>A	ENST00000462775.1	+	12	2465	c.2340G>A	c.(2338-2340)tcG>tcA	p.S780S	RASAL2_ENST00000448150.3_Silent_p.S910S|RASAL2_ENST00000367649.3_Silent_p.S921S	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	780					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						AGCCCTTGTCGTTCCAGAACC	0.542																																						ENST00000448150.3																			0				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						c.(2728-2730)tcG>tcA		RAS protein activator like 2							89	91	90					1																	178427190		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427190G>A	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.2340G>A	1.37:g.178427190G>A						RASAL2_ENST00000462775.1_Silent_p.S780S|RASAL2_ENST00000367649.3_Silent_p.S921S	p.S910S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	3548	+			780					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2730G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203201	0.09704	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59306	-0.7479	4	.	.	.	.	10.0515	0.42219	0.3885:0.4867:0.0586:0.0662	.	.	.	.	I	331	.	.	V	+	1	0	RASAL2	176693813	0.000000	0.05858	0.864000	0.33941	0.926000	0.56050	-1.747000	0.01827	-1.590000	0.01623	-2.349000	0.00243	GTT		0.542	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		12	60	0	0	0	1	0	12	60					A	178427190	G	A	178427190	2	1	457	1	0	0	0	0	0	0	0	1	13064	1132	40	1		1	RASAL2	1	178427190	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	4009696	178427190	70823431	4	38059											
ADCY3	109	broad.mit.edu	37	chr2	25141329	25141329	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgtgatgaagaaggagaaGacaaagaagacctgccagcc	13	8	0	7			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:25141329G>A	ENST00000260600.5	-	1	1379	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	176					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGAAGGAGAAGACAAAGAAGA	0.612																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(526-528)gtC>gtT		adenylate cyclase 3							79	85	83					2																	25141329		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141329G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.528C>T	2.37:g.25141329G>A							p.V176V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			1	1379	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		176					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.528C>T	CCDS1715.1																																																																																				0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			38	33	0	0	0	1	0	38	33					A	25141329	G	A	25141329	2	1	457	1	0	0	0	0	0	0	0	1	295	929	33	2		2	ADCY3	2	25141329	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		25141329	218058044	5	38060											
GALNT5	11227	broad.mit.edu	37	chr2	158115046	158115046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgggagaggcaccaaacCtgaagcctcctctcaccagg	11	14	1	3	rs371955379		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:158115046C>A	ENST00000259056.4	+	1	937	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	151					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGCACCAAACCTGAAGCCTCC	0.542																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(451-453)cCt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		C	HIS/PRO	0,4406		0,0,2203	67	69	68		452	0.7	0	2		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT5	NM_014568.1	77	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	151/941	158115046	1,13005	2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115046C>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.452C>A	2.37:g.158115046C>A	ENSP00000259056:p.Pro151His						p.P151H	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			1	937	+			151					A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.452C>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863891	0.32884	0.0	1.16E-4	ENSG00000136542	ENST00000259056	T	0.57752	0.38	5.51	0.717	0.18196	.	2.226600	0.01528	N	0.018657	T	0.41488	0.1161	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33471	-0.9867	10	0.87932	D	0	.	2.567	0.04785	0.5094:0.2436:0.139:0.1081	.	151	Q7Z7M9	GALT5_HUMAN	H	151	ENSP00000259056:P151H	ENSP00000259056:P151H	P	+	2	0	GALNT5	157823292	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.171000	0.16685	0.280000	0.22209	0.655000	0.94253	CCT		0.542	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		11	38	1	0	0.00316338	1	0.00316338	11	38					A	158115046	C	A	158115046	3	1	457	1	0	0	0	0	1	0	0	0	6216	681	24	4	454	4	GALNT5	2	158115046	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	132973717	158115046	85084327	6	38061											
MARCH7	64844	broad.mit.edu	37	chr2	160605198	160605198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtggctctacatcagattCggctcaaggtggaagaaata	12	7	3	2	rs557067129		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:160605198C>T	ENST00000259050.4	+	5	1519	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	466					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ACATCAGATTCGGCTCAAGGT	0.493																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1396-1398)tCg>tTg		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							149	157	154					2																	160605198		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605198C>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1397C>T	2.37:g.160605198C>T	ENSP00000259050:p.Ser466Leu					MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L	p.S466L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1519	+			466					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1397C>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267689	0.23136	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.59	1.71	0.24356	.	0.563334	0.18904	N	0.127957	T	0.06554	0.0168	N	0.04880	-0.145	0.28636	N	0.9074	B;B;B	0.14012	0.006;0.009;0.003	B;B;B	0.12156	0.007;0.001;0.001	T	0.25433	-1.0132	10	0.39692	T	0.17	-3.8969	10.128	0.42661	0.0:0.6633:0.0:0.3367	.	410;428;466	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	L	466;410;466;428	ENSP00000386830:S466L;ENSP00000442992:S410L;ENSP00000259050:S466L;ENSP00000387238:S428L	ENSP00000259050:S466L	S	+	2	0	MARCH7	160313444	0.920000	0.31207	0.472000	0.27241	0.990000	0.78478	1.741000	0.38238	0.457000	0.26962	0.655000	0.94253	TCG		0.493	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		5	240	0	0	0	1	0	5	240					T	160605198	C	T	160605198	3	4	457	1	0	0	0	0	1	0	0	0	9306	893	31	1	1411	1	MARCH7	2	160605198	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	2490152	160605198	82594175	7	38062											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	70	0	0	0	1	0	40	70					T	209113112	C	T	209113112	3	4	457	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	48507914	209113112	34086261	8	38063											
CAPN10	11132	broad.mit.edu	37	chr2	241531435	241531435	+	Frame_Shift_Del	DEL	A	A	-													gcggcctggcagaaagatggAacctgaagggcgtagcagga							TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:241531435delA	ENST00000391984.2	+	4	752	c.556delA	c.(556-558)aacfs	p.N186fs	CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	186	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				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)		AGAAAGATGGAACCTGAAGGG	0.657																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(556-558)acfs		calpain 10							34	39	37					2																	241531435		2202	4299	6501	SO:0001589	frameshift_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241531435delA	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.556delA	2.37:g.241531435delA	ENSP00000375844:p.Asn186fs					CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs	p.N186fs	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		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)	4	752	+		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)	186			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Frame_Shift_Del	DEL	ENST00000391984.2	37	c.556delA	CCDS42838.1																																																																																				0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		2	4						2	4	---	---	---	---	-	241531435	A	-	241531435	7	5	457	1	0	1	0	1	0	0	0	0	2623	246	9	0	570	0	CAPN10	2	241531435	Frame_Shift_Del	DEL	A	TCGA-S9-A7R8-01A-11D-A34J-08	32418323	241531435	1667938	9	38064											
SLC25A38	54977	broad.mit.edu	37	chr3	39433035	39433035	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccgccctggagtcagTcatgctgggggtgggctctc	14	14	3	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:39433035T>A	ENST00000273158.4	+	4	757	c.380T>A	c.(379-381)gTc>gAc	p.V127D		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTGGAGTCAGTCATGCTGGGG	0.527																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(379-381)gTc>gAc		solute carrier family 25, member 38							152	165	161					3																	39433035		2203	4300	6503	SO:0001583	missense	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39433035T>A	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.380T>A	3.37:g.39433035T>A	ENSP00000273158:p.Val127Asp						p.V127D	NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	757	+			127						Missense_Mutation	SNP	ENST00000273158.4	37	c.380T>A	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	t	22.2	4.263275	0.80358	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.80123	-1.34;-1.23	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.166361	0.52532	D	0.000064	D	0.90459	0.7012	M	0.92507	3.315	0.80722	D	1	P	0.41265	0.744	P	0.56398	0.797	D	0.91717	0.5386	10	0.56958	D	0.05	-20.8226	12.9579	0.58441	0.0:0.0:0.0:1.0	.	127	Q96DW6	S2538_HUMAN	D	127;123	ENSP00000273158:V127D;ENSP00000394244:V123D	ENSP00000273158:V127D	V	+	2	0	SLC25A38	39408039	1.000000	0.71417	0.454000	0.27019	0.554000	0.35429	7.672000	0.83956	1.953000	0.56701	0.533000	0.62120	GTC		0.527	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		5	275	0	0	0	1	0	5	275					A	39433035	T	A	39433035	3	1	457	1	0	0	0	0	1	0	0	0	14502	1667	58	5	394	5	SLC25A38	3	39433035	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		39433035	158589395	10	38065											
TKT	7086	broad.mit.edu	37	chr3	53264614	53264614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcttggccagtgcctgCccgtaggccttgcgggtggc	15	15	0	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:53264614C>T	ENST00000462138.1	-	8	1054	c.966G>A	c.(964-966)ggG>ggA	p.G322G	TKT_ENST00000423525.2_Silent_p.G322G|TKT_ENST00000296289.6_Silent_p.G275G|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.G330G			P29401	TKT_HUMAN	transketolase	322					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)		CCAGTGCCTGCCCGTAGGCCT	0.597																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(964-966)ggG>ggA		transketolase	Thiamine(DB00152)						69	64	66					3																	53264614		2203	4300	6503	SO:0001819	synonymous_variant	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53264614C>T		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.966G>A	3.37:g.53264614C>T						TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Silent_p.G275G|TKT_ENST00000423516.1_Silent_p.G330G|TKT_ENST00000423525.2_Silent_p.G322G	p.G322G			P29401	TKT_HUMAN		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)	8	1054	-		Prostate(884;0.0959)	322					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	c.966G>A	CCDS2871.1																																																																																				0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			16	28	0	0	0	1	0	16	28					T	53264614	C	T	53264614	2	4	457	1	0	0	0	0	0	0	0	1	15931	726	26	2		2	TKT	3	53264614	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	13831579	53264614	144757816	11	38066											
FAM193A	8603	broad.mit.edu	37	chr4	2701539	2701539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcaaggaggaatttcagCggcttcaggagcttcagaag	13	7	4	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr4:2701539C>T	ENST00000324666.5	+	17	3118	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	923										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						GGAATTTCAGCGGCTTCAGGA	0.537																																						ENST00000324666.5																			0				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						c.(2767-2769)Cgg>Tgg		family with sequence similarity 193, member A							41	43	42					4																	2701539		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2701539C>T	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.2767C>T	4.37:g.2701539C>T	ENSP00000324587:p.Arg923Trp					FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	p.R923W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			17	3118	+			923					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2767C>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032639	0.75504	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.37752	1.19;1.59;1.18;1.18;1.18	5.58	2.55	0.30701	.	0.057904	0.64402	D	0.000001	T	0.45034	0.1322	L	0.32530	0.975	0.47476	D	0.999434	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.67231	0.95;0.95;0.95;0.95;0.95	T	0.42682	-0.9437	10	0.87932	D	0	-20.3267	12.0959	0.53755	0.2484:0.6427:0.1089:0.0	.	923;945;923;945;923	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	W	923;923;923;945;777	ENSP00000372290:R923W;ENSP00000324587:R923W;ENSP00000443617:R923W;ENSP00000427505:R945W;ENSP00000427260:R777W	ENSP00000324587:R923W	R	+	1	2	FAM193A	2671337	1.000000	0.71417	0.969000	0.41365	0.966000	0.64601	2.824000	0.48088	0.699000	0.31761	0.650000	0.86243	CGG		0.537	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	52	0	0	0	1	0	4	52					T	2701539	C	T	2701539	3	4	457	1	0	0	0	0	1	0	0	0	5524	759	27	1	2825	1	FAM193A	4	2701539	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		2701539	188452737	12	38067											
KCNN2	3781	broad.mit.edu	37	chr5	113698614	113698614	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtggcggcgcgtccTccccgtctgcagccgctgcc	16	16	1	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr5:113698614T>C	ENST00000512097.3	+	2	1160	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	48					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGGCGCGTCCTCCCCGTCTGC	0.692																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(142-144)Tcc>Ccc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							8	9	9					5																	113698614		2148	4212	6360	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698614T>C	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.142T>C	5.37:g.113698614T>C	ENSP00000427120:p.Ser48Pro					KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P	p.S48P			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1160	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	48					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.142T>C	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500843	0.44455	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98684	-5.07;-5.07	5.28	3.96	0.45880	.	0.101782	0.38164	N	0.001783	D	0.93726	0.7995	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.88705	0.3218	10	0.27785	T	0.31	.	3.9411	0.09328	0.0:0.2327:0.0:0.7673	.	48	Q9H2S1	KCNN2_HUMAN	P	48	ENSP00000427120:S48P;ENSP00000264773:S48P	ENSP00000264773:S48P	S	+	1	0	KCNN2	113726513	0.538000	0.26394	1.000000	0.80357	0.946000	0.59487	-0.231000	0.09069	2.121000	0.65114	0.533000	0.62120	TCC		0.692	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		3	15	0	0	0	1	0	3	15					C	113698614	T	C	113698614	3	2	457	1	0	0	0	0	1	0	0	0	8079	1551	54	3	144	3	KCNN2	5	113698614	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		113698614	67216646	13	38068											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	18	0	0	0	1	0	4	18					G	45390482	C	G	45390482	3	3	457	1	0	0	0	0	1	0	0	0	13748	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		45390482	125724585	14	38069											
BCLAF1	9774	broad.mit.edu	37	chr6	136596694	136596694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatgatgaaccaaggacaCaatgtgttgaataaatgact	8	6	0	4			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:136596694C>A	ENST00000531224.1	-	6	2080	c.1828G>T	c.(1828-1830)Gtg>Ttg	p.V610L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	610					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)		ACCAAGGACACAATGTGTTGA	0.353																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1828-1830)Gtg>Ttg		BCL2-associated transcription factor 1							201	182	188					6																	136596694		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596694C>A	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.1828G>T	6.37:g.136596694C>A	ENSP00000435210:p.Val610Leu					BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L	p.V610L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	2080	-	Colorectal(23;0.24)		610					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1828G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312678	0.81358	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000025	T	0.44371	0.1290	M	0.64997	1.995	0.80722	D	1	D;D;D;P	0.71674	0.985;0.998;0.985;0.902	D;D;D;P	0.81914	0.973;0.995;0.973;0.893	T	0.34576	-0.9823	10	0.72032	D	0.01	-4.4985	19.7788	0.96409	0.0:1.0:0.0:0.0	.	608;608;610;437	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	610;608;610;437;608;608;610	ENSP00000435210:V610L;ENSP00000229446:V608L;ENSP00000435441:V610L;ENSP00000436501:V437L;ENSP00000434826:V608L;ENSP00000376159:V608L;ENSP00000431734:V610L	ENSP00000229446:V608L	V	-	1	0	BCLAF1	136638387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.641000	0.74324	2.749000	0.94314	0.460000	0.39030	GTG		0.353	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	123	1	0	5.35267e-07	1	5.42701e-07	14	123					A	136596694	C	A	136596694	3	1	457	1	0	0	0	0	1	0	0	0	1383	478	17	4	966	4	BCLAF1	6	136596694	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	91206212	136596694	34518373	15	38070											
TPST1	8460	broad.mit.edu	37	chr7	65705883	65705883	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagccagccccttatttatgTaataaagatccttttgccct	6	11	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:65705883T>A	ENST00000304842.5	+	2	896	c.471T>A	c.(469-471)tgT>tgA	p.C157*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	157					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTATTTATGTAATAAAGATC	0.443																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(469-471)tgT>tgA		tyrosylprotein sulfotransferase 1							59	59	59					7																	65705883		2203	4300	6503	SO:0001587	stop_gained	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705883T>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.471T>A	7.37:g.65705883T>A	ENSP00000302413:p.Cys157*					TPST1_ENST00000480281.1_Intron	p.C157*	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	896	+			157					A4D2M0|Q6FGM7	Nonsense_Mutation	SNP	ENST00000304842.5	37	c.471T>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	T	37	6.055387	0.97241	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	.	.	.	5.75	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6812	8.9677	0.35887	0.0:0.2123:0.0:0.7877	.	.	.	.	X	157	.	ENSP00000302413:C157X	C	+	3	2	TPST1	65343318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.427000	0.34881	0.996000	0.38943	0.477000	0.44152	TGT		0.443	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		46	35	0	0	0	1	0	46	35					A	65705883	T	A	65705883	4	1	457	1	0	0	0	0	0	1	0	0	16424	1644	57	5	473	5	TPST1	7	65705883	Nonsense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		65705883	93432780	16	38071											
SEMA3A	10371	broad.mit.edu	37	chr7	83823801	83823801	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taagatttacctttgtaggaTaatttcagccttggcacatt	7	7	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:83823801T>G	ENST00000265362.4	-	1	416	c.102A>C	c.(100-102)ttA>ttC	p.L34F	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	34	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						CTTTGTAGGATAATTTCAGCC	0.408																																						ENST00000265362.3																			0				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						c.(100-102)ttA>ttC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							176	175	175					7																	83823801		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823801T>G	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.102A>C	7.37:g.83823801T>G	ENSP00000265362:p.Leu34Phe					SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			1	416	-			34			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.102A>C	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.738402	0.30774	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879	T;T;T	0.27256	1.68;1.68;1.68	5.84	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.287180	0.33792	N	0.004546	T	0.27524	0.0676	M	0.76938	2.355	0.50467	D	0.999871	B	0.09022	0.002	B	0.15052	0.012	T	0.08932	-1.0698	10	0.59425	D	0.04	.	5.393	0.16253	0.0:0.2065:0.1382:0.6553	.	34	Q14563	SEM3A_HUMAN	F	34	ENSP00000265362:L34F;ENSP00000415260:L34F;ENSP00000391900:L34F	ENSP00000265362:L34F	L	-	3	2	SEMA3A	83661737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.996000	0.29719	0.430000	0.26230	0.529000	0.55759	TTA		0.408	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		62	75	0	0	0	1	0	62	75					G	83823801	T	G	83823801	3	3	457	1	0	0	0	0	1	0	0	0	14024	1403	49	5	2281	5	SEMA3A	7	83823801	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	18117918	83823801	75314862	17	38072											
FZD1	8321	broad.mit.edu	37	chr7	90895601	90895601	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgctgggccaggtggAcggcgatgtgctgagcggag	20	10	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:90895601A>G	ENST00000287934.2	+	1	1819	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	469					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCCAGGTGGACGGCGATGTG	0.632																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1405-1407)gAc>gGc		frizzled family receptor 1							141	126	131					7																	90895601		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895601A>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1406A>G	7.37:g.90895601A>G	ENSP00000287934:p.Asp469Gly						p.D469G	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1819	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		469					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1406A>G	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.908613	0.72868	.	.	ENSG00000157240	ENST00000287934	D	0.85013	-1.93	4.52	4.52	0.55395	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.92678	0.7673	M	0.88181	2.935	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	D	0.94063	0.7328	10	0.87932	D	0	.	14.0113	0.64498	1.0:0.0:0.0:0.0	.	469	Q9UP38	FZD1_HUMAN	G	469	ENSP00000287934:D469G	ENSP00000287934:D469G	D	+	2	0	FZD1	90733537	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.134000	0.94467	1.906000	0.55180	0.379000	0.24179	GAC		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		69	109	0	0	0	1	0	69	109					G	90895601	A	G	90895601	3	3	457	1	0	0	0	0	1	0	0	0	6128	275	10	3	1408	3	FZD1	7	90895601	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	7071800	90895601	68243062	18	38073											
MUC17	140453	broad.mit.edu	37	chr7	100677440	100677440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaaggtaccagcatgCcaacctcaactcctggggaa	9	13	2	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:100677440C>T	ENST00000306151.4	+	3	2807	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	915	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)					TACCAGCATGCCAACCTCAAC	0.507																																						ENST00000306151.4																			0				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						c.(2743-2745)Cca>Tca		mucin 17, cell surface associated							348	318	328					7																	100677440		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677440C>T	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.2743C>T	7.37:g.100677440C>T	ENSP00000302716:p.Pro915Ser						p.P915S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2807	+	Lung NSC(181;0.136)|all_lung(186;0.182)		915			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2743C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.676	-0.507634	0.04231	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.01222	0.0040	N	0.04880	-0.145	0.09310	N	1	P	0.41232	0.743	B	0.28849	0.095	T	0.31447	-0.9943	9	0.02654	T	1	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	915	Q685J3	MUC17_HUMAN	S	915	ENSP00000302716:P915S	ENSP00000302716:P915S	P	+	1	0	MUC17	100464160	0.000000	0.05858	0.013000	0.15412	0.014000	0.08584	-1.391000	0.02525	0.551000	0.29008	0.134000	0.15878	CCA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	635	0	0	0	1	0	7	635					T	100677440	C	T	100677440	3	4	457	1	0	0	0	0	1	0	0	0	9974	739	26	2	2753	2	MUC17	7	100677440	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	9781839	100677440	58461223	19	38074											
KIF13B	23303	broad.mit.edu	37	chr8	29043864	29043864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaatttccatgtaggacaCttctactttaaaactctgtt	4	8	2	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:29043864C>T	ENST00000524189.1	-	6	480	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	148	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)		ATGTAGGACACTTCTACTTTA	0.393																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(442-444)Gtg>Atg		kinesin family member 13B							154	156	155					8																	29043864		1828	4076	5904	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29043864C>T	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.442G>A	8.37:g.29043864C>T	ENSP00000427900:p.Val148Met					KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	6	480	-		Ovarian(32;0.000536)	148			Kinesin-motor.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.442G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884411	0.91814	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.79141	-1.24;-1.24	5.24	5.24	0.73138	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.979	D	0.88313	0.2957	10	0.51188	T	0.08	.	19.0179	0.92901	0.0:1.0:0.0:0.0	.	134;148;148	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	M	148	ENSP00000427900:V148M;ENSP00000429201:V148M	ENSP00000429201:V148M	V	-	1	0	KIF13B	29099783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.728000	0.93425	0.650000	0.86243	GTG		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			10	177	0	0	0	1	0	10	177					T	29043864	C	T	29043864	3	4	457	1	0	0	0	0	1	0	0	0	8275	565	20	2	5178	2	KIF13B	8	29043864	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		29043864	117320158	20	38075											
MAPK15	225689	broad.mit.edu	37	chr8	144802971	144802971	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcgccccggacaagcggtTaagcgcgacccaggcactgc	13	15	0	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:144802971T>G	ENST00000338033.4	+	9	997	c.878T>G	c.(877-879)tTa>tGa	p.L293*	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACAAGCGGTTAAGCGCGACC	0.672																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(877-879)tTa>tGa		mitogen-activated protein kinase 15							37	46	43					8																	144802971		2093	4194	6287	SO:0001587	stop_gained	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144802971T>G	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.878T>G	8.37:g.144802971T>G	ENSP00000337691:p.Leu293*						p.L293*	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		9	997	+	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)		293			Protein kinase.		Q2TCF9|Q8N362	Nonsense_Mutation	SNP	ENST00000338033.4	37	c.878T>G	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	t	20.4	3.982240	0.74474	.	.	ENSG00000181085	ENST00000338033	.	.	.	3.54	3.54	0.40534	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.583	9.9287	0.41507	0.0:0.0:0.0:1.0	.	.	.	.	X	293	.	ENSP00000337691:L293X	L	+	2	0	MAPK15	144874959	1.000000	0.71417	0.498000	0.27564	0.029000	0.11900	4.739000	0.62080	1.456000	0.47831	0.383000	0.25322	TTA		0.672	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		15	23	0	0	0	1	0	15	23					G	144802971	T	G	144802971	4	3	457	1	0	0	0	0	0	1	0	0	9277	1764	61	5	912	5	MAPK15	8	144802971	Nonsense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	115759107	144802971	1561051	21	38076											
TJP2	9414	broad.mit.edu	37	chr9	71861646	71861646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaatgatagctggtttggCagcttaaaggacactattca	10	8	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:71861646C>T	ENST00000377245.4	+	18	2815	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	TJP2_ENST00000453658.2_Silent_p.G846G|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000539225.1_Silent_p.G900G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	869	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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						GCTGGTTTGGCAGCTTAAAGG	0.408																																						ENST00000377245.4																			0				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						c.(2605-2607)ggC>ggT		tight junction protein 2							127	121	123					9																	71861646		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71861646C>T	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.2607C>T	9.37:g.71861646C>T						TJP2_ENST00000539225.1_Silent_p.G900G|TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000453658.2_Silent_p.G846G|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000498204.1_3'UTR	p.G869G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			18	2815	+			869			Guanylate kinase-like.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.2607C>T	CCDS6627.1																																																																																				0.408	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		4	99	0	0	0	1	0	4	99					T	71861646	C	T	71861646	2	4	457	1	0	0	0	0	0	0	0	1	15927	697	25	2		2	TJP2	9	71861646	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		71861646	69351785	22	38077											
RASEF	158158	broad.mit.edu	37	chr9	85605368	85605368	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggcacttgtttcacagaaTaatgccccatacgtctgtaa	7	10	2	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:85605368T>G	ENST00000376447.3	-	16	2315	c.2055A>C	c.(2053-2055)ttA>ttC	p.L685F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	685					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCACAGAATAATGCCCCAT	0.348																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(2053-2055)ttA>ttC		RAS and EF-hand domain containing							125	113	117					9																	85605368		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85605368T>G	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2055A>C	9.37:g.85605368T>G	ENSP00000365630:p.Leu685Phe						p.L685F	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			16	2315	-			685					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.2055A>C	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149103	0.57151	.	.	ENSG00000165105	ENST00000376447	T	0.80123	-1.34	5.52	3.21	0.36854	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	D	0.85643	0.5744	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84765	0.0764	10	0.72032	D	0.01	.	7.6545	0.28367	0.0:0.2322:0.0:0.7678	.	685	Q8IZ41	RASEF_HUMAN	F	685	ENSP00000365630:L685F	ENSP00000365630:L685F	L	-	3	2	RASEF	84795188	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	0.701000	0.25616	0.935000	0.37341	0.533000	0.62120	TTA		0.348	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		48	59	0	0	0	1	0	48	59					G	85605368	T	G	85605368	3	3	457	1	0	0	0	0	1	0	0	0	13068	1403	49	5	175	5	RASEF	9	85605368	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	13743722	85605368	55608063	23	38078											
CEP55	55165	broad.mit.edu	37	chr10	95276727	95276727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagcagaaatgttacaacGatctcttggcaagtgcaaaa	9	7	1	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:95276727G>A	ENST00000371485.3	+	6	1019	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239					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)				ATGTTACAACGATCTCTTGGC	0.333																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(715-717)Gat>Aat		centrosomal protein 55kDa							66	68	67					10																	95276727		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95276727G>A	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.715G>A	10.37:g.95276727G>A	ENSP00000360540:p.Asp239Asn						p.D239N	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN			6	1019	+		Colorectal(252;0.207)	239					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.715G>A	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	8.481	0.859786	0.17178	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.16597	2.33	5.74	1.77	0.24775	.	0.521358	0.23369	N	0.048922	T	0.07773	0.0195	N	0.08118	0	0.19300	N	0.999975	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.21540	T	0.41	-1.7292	9.9546	0.41660	0.3544:0.4011:0.2445:0.0	.	239	Q53EZ4	CEP55_HUMAN	N	239	ENSP00000360540:D239N	ENSP00000351102:D239N	D	+	1	0	CEP55	95266717	0.392000	0.25229	0.258000	0.24420	0.341000	0.28922	0.789000	0.26886	0.065000	0.16485	-0.311000	0.09066	GAT		0.333	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		22	54	0	0	0	1	0	22	54					A	95276727	G	A	95276727	3	1	457	1	0	0	0	0	1	0	0	0	3255	1058	37	1	733	1	CEP55	10	95276727	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		95276727	40258020	24	38079											
FAM24A	118670	broad.mit.edu	37	chr10	124671156	124671156	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttctccttaggcatggcAaagatgtttgatctcaggac	9	9	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:124671156A>G	ENST00000368894.1	+	2	127	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TAGGCATGGCAAAGATGTTTG	0.502																																						ENST00000368894.1																			0				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(4-6)gcA>gcG		family with sequence similarity 24, member A							309	259	276					10																	124671156		2203	4300	6503	SO:0001819	synonymous_variant	118670					extracellular region		g.chr10:124671156A>G		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.6A>G	10.37:g.124671156A>G							p.A2A	NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	127	+		all_neural(114;0.169)|Glioma(114;0.222)	2						Silent	SNP	ENST00000368894.1	37	c.6A>G	CCDS31304.1																																																																																				0.502	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		78	108	0	0	0	1	0	78	108					G	124671156	A	G	124671156	2	3	457	1	0	0	0	0	0	0	0	1	5547	117	5	3		3	FAM24A	10	124671156	Silent	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	29394429	124671156	10863591	25	38080											
CNGA4	1262	broad.mit.edu	37	chr11	6261635	6261635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgacgcatgggtgtaccCggaccccgcgcagcctggct	15	15	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:6261635C>T	ENST00000379936.2	+	4	726	c.611C>T	c.(610-612)cCg>cTg	p.P204L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	204					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGTACCCGGACCCCGCG	0.567																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(610-612)cCg>cTg		cyclic nucleotide gated channel alpha 4							62	68	66					11																	6261635		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261635C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.611C>T	11.37:g.6261635C>T	ENSP00000369268:p.Pro204Leu					CNGA4_ENST00000533426.1_Intron	p.P204L	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	726	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	204						Missense_Mutation	SNP	ENST00000379936.2	37	c.611C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508004	0.85282	.	.	ENSG00000132259	ENST00000379936	D	0.98345	-4.88	5.25	5.25	0.73442	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.77557	0.99;0.891	D	0.99308	1.0903	10	0.42905	T	0.14	.	17.7596	0.88461	0.0:1.0:0.0:0.0	.	204;164	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	L	204	ENSP00000369268:P204L	ENSP00000369268:P204L	P	+	2	0	CNGA4	6218211	1.000000	0.71417	0.997000	0.53966	0.598000	0.36846	7.445000	0.80570	2.602000	0.87976	0.650000	0.86243	CCG		0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		16	169	0	0	0	1	0	16	169					T	6261635	C	T	6261635	3	4	457	1	0	0	0	0	1	0	0	0	3599	652	23	1	625	1	CNGA4	11	6261635	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		6261635	128744881	26	38081											
KRT73	319101	broad.mit.edu	37	chr12	53008439	53008439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagctccactttgctcGtgtaagctgcgtccacgtcc	9	16	0	0	rs142246988	byFrequency	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:53008439G>A	ENST00000305748.3	-	4	777	c.743C>T	c.(742-744)aCg>aTg	p.T248M	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	248	Coil 1B.|Rod.		T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.T248M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTTGCTCGTGTAAGCTGC	0.577													A|||	4	0.000798722	0.0	0.0014	5008	,	,		19828	0.0		0.003	False		,,,				2504	0.0					ENST00000305748.3																			1	Substitution - Missense(1)	p.T248M(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(742-744)aCg>aTg		keratin 73		A	MET/THR	1,4405	826.1+/-416.6	0,1,2202	127	104	112		743	3.9	1	12	dbSNP_134	112	24,8576	818.2+/-406.9	0,24,4276	yes	missense	KRT73	NM_175068.2	81	0,25,6478	AA,AG,GG		0.2791,0.0227,0.1922	benign	248/541	53008439	25,12981	2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53008439G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.743C>T	12.37:g.53008439G>A	ENSP00000307014:p.Thr248Met					RP11-641A6.2_ENST00000552364.1_RNA	p.T248M	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	777	-			248		T -> M (in a colorectal cancer sample; somatic mutation).	Coil 1B.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.743C>T	CCDS8834.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	A	11.03	1.517683	0.27123	2.27E-4	0.002791	ENSG00000186049	ENST00000305748	D	0.87650	-2.28	4.99	3.86	0.44501	Filament (1);	0.101474	0.44902	N	0.000419	T	0.43722	0.1260	N	0.00011	-2.985	0.19775	N	0.999954	B	0.14805	0.011	B	0.12156	0.007	T	0.57980	-0.7717	10	0.02654	T	1	.	8.8422	0.35148	0.8424:0.0:0.1576:0.0	.	248	Q86Y46	K2C73_HUMAN	M	248	ENSP00000307014:T248M	ENSP00000307014:T248M	T	-	2	0	KRT73	51294706	0.987000	0.35691	1.000000	0.80357	0.542000	0.35054	5.115000	0.64655	1.003000	0.39130	-0.381000	0.06696	ACG		0.577	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		42	38	0	0	0	1	0	42	38					A	53008439	G	A	53008439	3	1	457	1	0	0	0	0	1	0	0	0	8486	1145	40	1	903	1	KRT73	12	53008439	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		53008439	80843456	27	38082											
MMAB	326625	broad.mit.edu	37	chr12	109998861	109998861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgtctctcggcccggcGgcacacggcccggcagaaat	12	16	1	1	rs398124434		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:109998861G>A	ENST00000545712.2	-	7	961	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	MMAB_ENST00000540016.1_Missense_Mutation_p.R138C|MMAB_ENST00000266839.5_Missense_Mutation_p.R99C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	190					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGGCCCGGCGGCACACGGCC	0.652																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6	GRCh37	CM061117	MMAB	M		c.(568-570)Cgc>Tgc		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						39	40	40					12																	109998861		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998861G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.568C>T	12.37:g.109998861G>A	ENSP00000445920:p.Arg190Cys					MMAB_ENST00000540016.1_Missense_Mutation_p.R138C|MMAB_ENST00000266839.5_Missense_Mutation_p.R99C	p.R190C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			7	961	-			190					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.568C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112375	0.77210	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.98762	-5.12;-5.12	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.000000	0.85682	D	0.000000	D	0.99545	0.9837	H	0.99357	4.53	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	0.97672	1.0167	10	0.87932	D	0	-25.5206	15.4029	0.74855	0.0:0.0:1.0:0.0	.	99;190;190	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	C	190;99	ENSP00000445920:R190C;ENSP00000266839:R99C	ENSP00000266839:R99C	R	-	1	0	MMAB	108483244	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.300000	0.78841	2.545000	0.85829	0.650000	0.86243	CGC		0.652	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			10	42	0	0	0	1	0	10	42					A	109998861	G	A	109998861	3	1	457	1	0	0	0	0	1	0	0	0	9640	1116	39	1	196	1	MMAB	12	109998861	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	56990422	109998861	23853034	28	38083											
MYH6	4624	broad.mit.edu	37	chr14	23874315	23874315	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcactcgctcacgtgatgAggatggactggttctcccga	13	11	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:23874315A>T	ENST00000356287.3	-	5	553	c.524T>A	c.(523-525)cTc>cAc	p.L175H	MYH6_ENST00000405093.3_Missense_Mutation_p.L175H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	175	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)		TCACGTGATGAGGATGGACTG	0.582																																						ENST00000405093.3																			0				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						c.(523-525)cTc>cAc		myosin, heavy chain 6, cardiac muscle, alpha							96	89	91					14																	23874315		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23874315A>T	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.524T>A	14.37:g.23874315A>T	ENSP00000348634:p.Leu175His					MYH6_ENST00000356287.3_Missense_Mutation_p.L175H	p.L175H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	6	594	-	all_cancers(95;2.54e-05)		175			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.524T>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.417096	0.83449	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90069	-2.61;-2.61	4.29	4.29	0.51040	Myosin head, motor domain (3);	.	.	.	.	D	0.97170	0.9075	H	0.99863	4.86	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98218	1.0476	9	0.87932	D	0	.	13.5788	0.61890	1.0:0.0:0.0:0.0	.	175;175	D9YZU2;P13533	.;MYH6_HUMAN	H	175	ENSP00000386041:L175H;ENSP00000348634:L175H	ENSP00000348634:L175H	L	-	2	0	MYH6	22944155	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.776000	0.91776	1.943000	0.56356	0.444000	0.29173	CTC		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	123	0	0	0	1	0	4	123					T	23874315	A	T	23874315	3	4	457	1	0	0	0	0	1	0	0	0	10038	304	11	5	5431	5	MYH6	14	23874315	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08		23874315	83475225	29	38084											
LTB4R	1241	broad.mit.edu	37	chr14	24785430	24785430	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgtcacgggcttcctGctgcccttcctggctgtggt	14	13	1	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:24785430G>T	ENST00000396789.4	+	2	2298	c.573G>T	c.(571-573)ctG>ctT	p.L191L	LTB4R_ENST00000396782.2_Silent_p.L191L|LTB4R_ENST00000345363.3_Silent_p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	191					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGGGCTTCCTGCTGCCCTTCC	0.672																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(571-573)ctG>ctT		leukotriene B4 receptor							44	46	45					14																	24785430		2203	4300	6503	SO:0001819	synonymous_variant	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785430G>T	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.573G>T	14.37:g.24785430G>T						LTB4R_ENST00000345363.3_Silent_p.L191L|LTB4R_ENST00000396782.2_Silent_p.L191L	p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2298	+			191					Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	ENST00000396789.4	37	c.573G>T	CCDS9626.1																																																																																				0.672	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			86	48	1	0	2.56433e-40	1	2.63656e-40	86	48					T	24785430	G	T	24785430	2	4	457	1	0	0	0	0	0	0	0	1	9071	1306	46	4		4	LTB4R	14	24785430	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	911115	24785430	82564110	30	38085											
FAM96A	84191	broad.mit.edu	37	chr15	64381046	64381046	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggtcccggatagttctaatCaaatctaaagaatcatcaga	8	8	5	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:64381046C>G	ENST00000300030.3	-	2	378	c.129G>C	c.(127-129)ttG>ttC	p.L43F	FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F|FAM96A_ENST00000557835.1_Missense_Mutation_p.L43F	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	43					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						TAGTTCTAATCAAATCTAAAG	0.348																																						ENST00000557835.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(127-129)ttG>ttC		family with sequence similarity 96, member A							45	45	45					15																	64381046		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64381046C>G		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.129G>C	15.37:g.64381046C>G	ENSP00000300030:p.Leu43Phe					FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000300030.3_Missense_Mutation_p.L43F|FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F	p.L43F			Q9H5X1	FA96A_HUMAN			2	155	-			43					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.129G>C	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603551	0.46423	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.63	4.62	0.57501	Domain of unknown function DUF59 (1);	0.241689	0.34603	N	0.003832	T	0.42086	0.1187	L	0.41027	1.25	0.44871	D	0.997881	P;B	0.38335	0.627;0.153	B;B	0.40901	0.343;0.121	T	0.37619	-0.9698	9	0.46703	T	0.11	-4.7942	5.2567	0.15552	0.0:0.7643:0.0:0.2357	.	43;43	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	F	43	.	ENSP00000300030:L43F	L	-	3	2	FAM96A	62168099	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.943000	0.29030	2.659000	0.90383	0.650000	0.86243	TTG		0.348	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		36	38	0	0	0	1	0	36	38					G	64381046	C	G	64381046	3	3	457	1	0	0	0	0	1	0	0	0	5654	825	29	4	369	4	FAM96A	15	64381046	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		64381046	38150346	31	38086											
CACNA1H	8912	broad.mit.edu	37	chr16	1268228	1268228	+	Frame_Shift_Del	DEL	T	T	-													aggacacgctgcgcgagtgcTcccgtgaggacaagcactgc							TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:1268228delT	ENST00000348261.5	+	33	5712	c.5464delT	c.(5464-5466)tccfs	p.S1822fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1822					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)	GCGCGAGTGCTCCCGTGAGGA	0.697																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5464-5466)ccfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						22	26	25					16																	1268228		2011	4002	6013	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1268228delT	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.5464delT	16.37:g.1268228delT	ENSP00000334198:p.Ser1822fs					CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs	p.S1822fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			33	5712	+		Hepatocellular(780;0.00369)	1822					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.5464delT	CCDS45375.1																																																																																				0.697	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---	-	1268228	T	-	1268228	7	5	457	1	0	1	0	1	0	0	0	0	2545	1551	54	0	5590	0	CACNA1H	16	1268228	Frame_Shift_Del	DEL	T	TCGA-S9-A7R8-01A-11D-A34J-08		1268228	89086525	32	38087											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2087555	2087555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcaatggtggctctgCgtgctcgtcccgaagtgacc	12	14	2	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:2087555C>T	ENST00000424542.2	+	6	947	c.809C>T	c.(808-810)gCg>gTg	p.A270V	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	270					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GGTGGCTCTGCGTGCTCGTCC	0.582																																					Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(808-810)gCg>gTg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							122	127	126					16																	2087555		2176	4266	6442	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2087555C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.809C>T	16.37:g.2087555C>T	ENSP00000408005:p.Ala270Val					SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V	p.A270V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			6	947	+			270					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.809C>T	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	C	1.784	-0.481103	0.04383	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.20738	2.05;2.08	4.53	-0.312	0.12758	.	0.777662	0.11569	N	0.550959	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.40496	-0.9560	10	0.17369	T	0.5	-13.2115	7.8343	0.29362	0.0:0.5526:0.0:0.4474	.	305;270;270	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	V	270	ENSP00000408005:A270V;ENSP00000402857:A270V	ENSP00000408005:A270V	A	+	2	0	SLC9A3R2	2027556	0.000000	0.05858	0.014000	0.15608	0.422000	0.31414	-0.367000	0.07553	-0.420000	0.07427	0.462000	0.41574	GCG		0.582	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			3	23	0	0	0	1	0	3	23					T	2087555	C	T	2087555	3	4	457	1	0	0	0	0	1	0	0	0	14715	768	27	1	831	1	SLC9A3R2	16	2087555	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	819327	2087555	88267198	33	38088											
NOMO2	283820	broad.mit.edu	37	chr16	18554945	18554945	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttgcttacctctttAgttactaaagaagaaaagag	6	6	2	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:18554945A>C	ENST00000381474.3	-	7	794	c.729T>G	c.(727-729)acT>acG	p.T243T	NOMO2_ENST00000330537.6_Silent_p.T243T|NOMO2_ENST00000543392.1_Silent_p.T76T	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	243						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCTCTTTAGTTACTAAAG	0.438																																						ENST00000330537.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						c.(727-729)acT>acG		NODAL modulator 2							99	84	90					16																	18554945		2195	4298	6493	SO:0001819	synonymous_variant	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18554945A>C	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.729T>G	16.37:g.18554945A>C						NOMO2_ENST00000381474.3_Silent_p.T243T|NOMO2_ENST00000543392.1_Silent_p.T76T	p.T243T	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN			7	899	-			243					Q4G177	Silent	SNP	ENST00000381474.3	37	c.729T>G	CCDS32394.1																																																																																				0.438	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		53	92	0	0	0	1	0	53	92					C	18554945	A	C	18554945	2	2	457	1	0	0	0	0	0	0	0	1	10532	407	15	5		5	NOMO2	16	18554945	Silent	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	16467390	18554945	71799808	34	38089											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	8	15	1	0	rs121912657		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(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	GRCh37	CM920676	TP53	M	rs121912657	c.(814-816)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							62	54	57					17																	7577124		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577124C>T	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	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)				TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	946	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.814G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	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);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	2	0	0	0	1	0	30	2					T	7577124	C	T	7577124	3	4	457	1	0	0	0	0	1	0	0	0	16378	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		7577124	73618086	35	38090											
DNAH17	8632	broad.mit.edu	37	chr17	76491163	76491163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagttcgaagtcggggaCgaccatggcacagggcctgg	15	10	1	0	rs374326783		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:76491163C>T	ENST00000585328.1	-	39	6029	c.5905G>A	c.(5905-5907)Gtc>Atc	p.V1969I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V1960I|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1960	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGGGGACGACCATGGCA	0.607																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5878-5880)Gtc>Atc		dynein, axonemal, heavy chain 17		C	ILE/VAL	2,4108		0,2,2053	24	28	26		5920	3.6	1	17		26	0,8410		0,0,4205	no	missense	DNAH17	NM_173628.3	29	0,2,6258	TT,TC,CC		0.0,0.0487,0.016		1974/4463	76491163	2,12518	2055	4205	6260	SO:0001583	missense	8632							g.chr17:76491163C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5905G>A	17.37:g.76491163C>T	ENSP00000465516:p.Val1969Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V1969I|RP11-559N14.5_ENST00000591373.1_RNA	p.V1960I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		39	6002	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5878G>A		.	.	.	.	.	.	.	.	.	.	C	15.85	2.953519	0.53293	4.87E-4	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12879	2.64	3.61	3.61	0.41365	.	.	.	.	.	T	0.29783	0.0744	M	0.69185	2.1	0.33240	D	0.557052	.	.	.	.	.	.	T	0.46898	-0.9158	7	0.62326	D	0.03	.	15.4818	0.75534	0.0:1.0:0.0:0.0	.	.	.	.	I	1969;1960	ENSP00000374490:V1960I	ENSP00000300671:V1969I	V	-	1	0	DNAH17	74002758	0.997000	0.39634	0.968000	0.41197	0.638000	0.38207	3.715000	0.54897	1.843000	0.53566	0.499000	0.49734	GTC		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	8	0	0	0	1	0	4	8					T	76491163	C	T	76491163	3	4	457	1	0	0	0	0	1	0	0	0	4601	536	19	1	7640	1	DNAH17	17	76491163	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	68914039	76491163	4704047	36	38091											
C3	718	broad.mit.edu	37	chr19	6677968	6677968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtttctggttctcttcGtcttggcattcgtcctcctc	7	13	3	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:6677968G>A	ENST00000245907.6	-	41	5009	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1639	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)	GGTTCTCTTCGTCTTGGCATT	0.597																																						ENST00000245907.6																			0				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						c.(4915-4917)gaC>gaT		complement component 3							153	118	130					19																	6677968		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677968G>A	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.4917C>T	19.37:g.6677968G>A						C3_ENST00000599668.1_5'UTR	p.D1639D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	5009	-			1639			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4917C>T	CCDS32883.1																																																																																				0.597	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		32	51	0	0	0	1	0	32	51					A	6677968	G	A	6677968	2	1	457	1	0	0	0	0	0	0	0	1	2204	1136	40	1		1	C3	19	6677968	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		6677968	52451015	37	38092											
JAK3	3718	broad.mit.edu	37	chr19	17954587	17954587	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctggggggcacttcctaccGaatcctgtacagcaggactt	12	12	0	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:17954587G>A	ENST00000527670.1	-	2	336	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Splice_Site_p.R103C|JAK3_ENST00000458235.1_Splice_Site_p.R103C			P52333	JAK3_HUMAN	Janus kinase 3	103	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.			R -> RS (in Ref. 3; AAC50950). {ECO:0000305}.	B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACTTCCTACCGAATCCTGTAC	0.592		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.e3+1		Janus kinase 3							58	62	61					19																	17954587		2203	4299	6502	SO:0001630	splice_region_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17954587G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.308+1C>T	19.37:g.17954587G>A						JAK3_ENST00000527670.1_Splice_Site_p.R103_splice|JAK3_ENST00000534444.1_Splice_Site_p.R103_splice|JAK3_ENST00000526008.1_5'UTR	p.R103_splice	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			3	406	-			103	R -> RS (in Ref. 3; AAC50950).		FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	SNP	ENST00000527670.1	37	c.308_splice	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010937	0.54361	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.74737	-0.87;-0.87;-0.87	5.08	3.97	0.46021	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	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;1.0;1.0	D	0.86355	0.1713	10	0.87932	D	0	-31.8132	10.0457	0.42186	0.0:0.0:0.6761:0.3239	.	103;103;103	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	C	103	ENSP00000391676:R103C;ENSP00000432511:R103C;ENSP00000436421:R103C	ENSP00000413248:R103C	R	-	1	0	JAK3	17815587	0.999000	0.42202	0.997000	0.53966	0.222000	0.24845	1.603000	0.36794	2.367000	0.80283	0.585000	0.79938	CGC		0.592	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	Missense_Mutation	20	47	0	0	0	1	0	20	47					A	17954587	G	A	17954587	5	1	457	1	0	0	0	0	0	0	1	0	7939	1072	37	1	3155	1	JAK3	19	17954587	Splice_Site	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	11276619	17954587	41174396	38	38093											
FFAR2	2867	broad.mit.edu	37	chr19	35941457	35941457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctcttcttcagtggtgCgcagggcatttgggagaggg	15	7	3	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:35941457C>T	ENST00000599180.2	+	2	921	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	281					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|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 interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCAGTGGTGCGCAGGGCATT	0.577																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(841-843)Cgc>Tgc		free fatty acid receptor 2							97	95	95					19																	35941457		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941457C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.841C>T	19.37:g.35941457C>T	ENSP00000473159:p.Arg281Cys					FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C|FFAR2_ENST00000601590.1_Intron	p.R281C			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	921	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		281					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.841C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279436	0.59758	.	.	ENSG00000126262	ENST00000246549	T	0.58358	0.34	5.38	5.38	0.77491	.	0.233264	0.38492	N	0.001669	T	0.68026	0.2956	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	P	0.61275	0.886	T	0.70710	-0.4797	10	0.87932	D	0	-33.7615	16.9904	0.86352	0.0:1.0:0.0:0.0	.	281	O15552	FFAR2_HUMAN	C	281	ENSP00000246549:R281C	ENSP00000246549:R281C	R	+	1	0	FFAR2	40633297	1.000000	0.71417	0.997000	0.53966	0.065000	0.16274	3.003000	0.49505	2.677000	0.91161	0.563000	0.77884	CGC		0.577	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		214	83	0	0	0	1	0	214	83					T	35941457	C	T	35941457	3	4	457	1	0	0	0	0	1	0	0	0	5828	768	27	1	843	1	FFAR2	19	35941457	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	17986870	35941457	23187526	39	38094											
ZC3H4	23211	broad.mit.edu	37	chr19	47569810	47569810	+	Frame_Shift_Del	DEL	C	C	-													gggctggggtggggcaccctCggggggtggggtggcggtgg					rs568440265		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:47569810delC	ENST00000253048.5	-	15	3752	c.3715delG	c.(3715-3717)gagfs	p.E1239fs	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(3715-3717)agfs		zinc finger CCCH-type containing 4							7	9	9					19																	47569810		1722	3812	5534	SO:0001589	frameshift_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47569810delC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3715delG	19.37:g.47569810delC	ENSP00000253048:p.Glu1239fs					ZC3H4_ENST00000594019.1_5'UTR	p.E1239fs	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	3752	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	1239					Q9Y420	Frame_Shift_Del	DEL	ENST00000253048.5	37	c.3715delG	CCDS42582.1																																																																																				0.701	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			2	4						2	4	---	---	---	---	-	47569810	C	-	47569810	7	5	457	1	0	1	0	1	0	0	0	0	17567	893	31	0	200	0	ZC3H4	19	47569810	Frame_Shift_Del	DEL	C	TCGA-S9-A7R8-01A-11D-A34J-08	11628353	47569810	11559173	40	38095											
GLTSCR2	29997	broad.mit.edu	37	chr19	48248981	48248981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcttgctcaggagccGctggggctggaggttgacca	18	11	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:48248981G>A	ENST00000246802.5	+	1	203	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	55						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCAGGAGCCGCTGGGGCTGG	0.697																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(163-165)ccG>ccA		glioma tumor suppressor candidate region gene 2							12	17	15					19																	48248981		2189	4281	6470	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48248981G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.165G>A	19.37:g.48248981G>A						GLTSCR2_ENST00000598681.1_3'UTR	p.P55P	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	203	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	55					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.165G>A	CCDS12705.1																																																																																				0.697	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		3	11	0	0	0	1	0	3	11					A	48248981	G	A	48248981	2	1	457	1	0	0	0	0	0	0	0	1	6475	1074	38	1		1	GLTSCR2	19	48248981	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	679171	48248981	10880002	41	38096											
NLRP5	126206	broad.mit.edu	37	chr19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagccctcgtcagcaacCggagcttgacacacctgtgc	9	17	2	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					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)		CGTCAGCAACCGGAGCTTGAC	0.562																																						ENST00000390649.3																			0				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						c.(2851-2853)Cgg>Tgg		NLR family, pyrin domain containing 5							114	113	113					19																	56552352		2037	4215	6252	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552352C>T	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.2851C>T	19.37:g.56552352C>T	ENSP00000375063:p.Arg951Trp						p.R951W	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2851	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2851C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566238	0.45694	.	.	ENSG00000171487	ENST00000390649	T	0.64085	-0.08	4.37	2.15	0.27550	.	1.165660	0.06891	N	0.804302	T	0.66925	0.2839	L	0.51914	1.62	0.09310	N	1	D	0.71674	0.998	P	0.55871	0.786	T	0.52041	-0.8628	10	0.87932	D	0	.	5.5434	0.17051	0.1971:0.6962:0.0:0.1067	.	951	P59047	NALP5_HUMAN	W	951	ENSP00000375063:R951W	ENSP00000375063:R951W	R	+	1	2	NLRP5	61244164	0.001000	0.12720	0.006000	0.13384	0.052000	0.14988	0.517000	0.22832	0.518000	0.28383	0.655000	0.94253	CGG		0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		46	17	0	0	0	1	0	46	17					T	56552352	C	T	56552352	3	4	457	1	0	0	0	0	1	0	0	0	10480	643	23	1	2893	1	NLRP5	19	56552352	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	8303371	56552352	2576631	42	38097											
CHGB	1114	broad.mit.edu	37	chr20	5905691	5905691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaattcagccaaagggGctgactgtcattggagcggt	14	7	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:5905691G>A	ENST00000378961.4	+	5	2234	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	677						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCAAAGGGGCTGACTGTCA	0.438																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(2029-2031)gGc>gAc		chromogranin B (secretogranin 1)							77	75	75					20																	5905691		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5905691G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2030G>A	20.37:g.5905691G>A	ENSP00000368244:p.Gly677Asp						p.G677D	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			5	2234	+			677					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.2030G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215903	0.58452	.	.	ENSG00000089199	ENST00000378961	T	0.03004	4.08	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000006	T	0.19765	0.0475	M	0.70275	2.135	0.43683	D	0.996127	D	0.89917	1.0	D	0.97110	1.0	T	0.00014	-1.2410	10	0.87932	D	0	.	20.1782	0.98191	0.0:0.0:1.0:0.0	.	677	P05060	SCG1_HUMAN	D	677	ENSP00000368244:G677D	ENSP00000368244:G677D	G	+	2	0	CHGB	5853691	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	6.610000	0.74178	2.843000	0.97960	0.655000	0.94253	GGC		0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		22	22	0	0	0	1	0	22	22					A	5905691	G	A	5905691	3	1	457	1	0	0	0	0	1	0	0	0	3339	1203	42	2	2048	2	CHGB	20	5905691	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		5905691	57119829	43	38098											
RBL1	5933	broad.mit.edu	37	chr20	35672586	35672586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaaatctgttcttcaAtgctgtttaggtgtttcacc	6	10	5	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:35672586A>G	ENST00000373664.3	-	13	1739	c.1673T>C	c.(1672-1674)aTt>aCt	p.I558T	RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	558	Domain A.|Pocket; binds T and E1A.				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)				CTGTTCTTCAATGCTGTTTAG	0.478																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1672-1674)aTt>aCt		retinoblastoma-like 1 (p107)							123	116	118					20																	35672586		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35672586A>G	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.1673T>C	20.37:g.35672586A>G	ENSP00000362768:p.Ile558Thr					RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			13	1739	-		Myeloproliferative disorder(115;0.00878)	558			Domain A.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1673T>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329721	0.81690	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.89746	-2.56;-2.56	4.75	4.75	0.60458	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.050920	0.85682	D	0.000000	D	0.91074	0.7191	M	0.74546	2.27	0.80722	D	1	P;B	0.48911	0.917;0.314	P;P	0.49683	0.619;0.514	D	0.92181	0.5751	10	0.66056	D	0.02	-36.7516	14.4049	0.67075	1.0:0.0:0.0:0.0	.	558;558	P28749-2;P28749	.;RBL1_HUMAN	T	558	ENSP00000362768:I558T;ENSP00000343646:I558T	ENSP00000343646:I558T	I	-	2	0	RBL1	35106000	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	7.182000	0.77689	1.984000	0.57885	0.443000	0.29094	ATT		0.478	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		33	67	0	0	0	1	0	33	67					G	35672586	A	G	35672586	3	3	457	1	0	0	0	0	1	0	0	0	13109	101	4	3	1582	3	RBL1	20	35672586	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	29766895	35672586	27352934	44	38099											
CSF2RA	1438	broad.mit.edu	37	chrX	1407750	1407750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgacggccccccgtgacGtccagtattttttgtacata	9	13	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:1407750G>A	ENST00000381524.3	+	6	628	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	148					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CCCCCGTGACGTCCAGTATTT	0.468													g|||	1	0.000199681	0.0	0.0	5008	,	,		16184	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(442-444)Gtc>Atc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						99	109	106					X																	1407750		2203	4295	6498	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407750G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.442G>A	X.37:g.1407750G>A	ENSP00000370935:p.Val148Ile					CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I	p.V148I			P15509	CSF2R_HUMAN			6	628	+		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)	148					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.442G>A	CCDS35191.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.40	1.926674	0.34002	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;T;D;D;T;T;D;T;T;D;T	0.95949	-3.86;-3.86;0.33;-1.8;-3.86;0.33;0.33;-3.86;0.33;0.33;-3.86;0.33	2.02	2.02	0.26589	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.412764	0.16516	U	0.211018	D	0.93910	0.8051	.	.	.	0.09310	N	1	D;D;D;D;P;D	0.61697	0.977;0.961;0.99;0.975;0.939;0.978	B;P;P;B;B;B	0.50791	0.369;0.65;0.596;0.236;0.314;0.442	D	0.87170	0.2220	9	0.45353	T	0.12	.	7.2219	0.25992	0.0:0.0:1.0:0.0	.	148;148;148;148;148;148	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	I	148;148;148;148;15;148;148;148;148;148;148;148;148	ENSP00000370940:V148I;ENSP00000416437:V148I;ENSP00000354836:V148I;ENSP00000440491:V15I;ENSP00000370935:V148I;ENSP00000410667:V148I;ENSP00000397452:V148I;ENSP00000370920:V148I;ENSP00000348058:V148I;ENSP00000347606:V148I;ENSP00000394227:V148I;ENSP00000370911:V148I	ENSP00000347606:V148I	V	+	1	0	CSF2RA	1367750	0.683000	0.27633	0.019000	0.16419	0.126000	0.20510	0.804000	0.27098	1.072000	0.40860	0.280000	0.19369	GTC		0.468	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			68	70	0	0	0	1	0	68	70					A	1407750	G	A	1407750	3	1	457	1	0	0	0	0	1	0	0	0	3934	1145	40	1	456	1	CSF2RA	23	1407750	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		1407750	153862810	45	38100											
RBM10	8241	broad.mit.edu	37	chrX	47044862	47044862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctccgcgaggactggtgGcagcctacagcggggagagt	17	12	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:47044862G>A	ENST00000377604.3	+	20	2930	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RBM10_ENST00000345781.6_Missense_Mutation_p.A653T|RBM10_ENST00000329236.7_Missense_Mutation_p.A652T	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	730					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						AGGACTGGTGGCAGCCTACAG	0.682																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				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						c.(2188-2190)Gca>Aca		RNA binding motif protein 10							18	14	15					X																	47044862		2127	4172	6299	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47044862G>A	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.2188G>A	X.37:g.47044862G>A	ENSP00000366829:p.Ala730Thr					RBM10_ENST00000329236.7_Missense_Mutation_p.A652T|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.A653T	p.A730T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			20	2930	+			730					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.2188G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551382	0.86127	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20881	2.71;2.04;2.3	5.63	5.63	0.86233	.	0.203295	0.43579	D	0.000557	T	0.45875	0.1364	M	0.68317	2.08	0.44547	D	0.997506	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.992	D;D;D;D;D	0.81914	0.975;0.98;0.979;0.995;0.936	T	0.36817	-0.9732	10	0.62326	D	0.03	-10.4011	16.1684	0.81786	0.0:0.0:1.0:0.0	.	653;795;729;652;730	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	T	730;652;653	ENSP00000366829:A730T;ENSP00000328848:A652T;ENSP00000329659:A653T	ENSP00000328848:A652T	A	+	1	0	RBM10	46929806	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.275000	0.51639	2.509000	0.84616	0.600000	0.82982	GCA		0.682	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	3	0	0	0	1	0	4	3					A	47044862	G	A	47044862	3	1	457	1	0	0	0	0	1	0	0	0	13111	1203	42	2	2262	2	RBM10	23	47044862	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	45637112	47044862	108225698	46	38101											
ERAS	3266	broad.mit.edu	37	chrX	48688182	48688182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatggcaaggtcctgtaggGagaagacccggcaccagaag	14	11	0	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:48688182G>A	ENST00000338270.1	+	1	900	c.649G>A	c.(649-651)Gag>Aag	p.E217K	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	217					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GTCCTGTAGGGAGAAGACCCG	0.607																																						ENST00000338270.1																			0				endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						c.(649-651)Gag>Aag		ES cell expressed Ras							17	16	16					X																	48688182		2193	4294	6487	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48688182G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.649G>A	X.37:g.48688182G>A	ENSP00000339136:p.Glu217Lys						p.E217K	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN			1	900	+			217						Missense_Mutation	SNP	ENST00000338270.1	37	c.649G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	0.141	-1.102544	0.01828	.	.	ENSG00000187682	ENST00000338270	T	0.70869	-0.52	3.77	-5.01	0.02991	.	4.248470	0.00911	N	0.002469	T	0.42988	0.1227	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52230	-0.8603	10	0.02654	T	1	.	6.3421	0.21328	0.5667:0.2785:0.1548:0.0	.	217	Q7Z444	RASE_HUMAN	K	217	ENSP00000339136:E217K	ENSP00000339136:E217K	E	+	1	0	ERAS	48573126	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.856000	0.01662	-1.444000	0.01950	-0.386000	0.06593	GAG		0.607	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		9	12	0	0	0	1	0	9	12					A	48688182	G	A	48688182	3	1	457	1	0	0	0	0	1	0	0	0	5205	1175	41	2	651	2	ERAS	23	48688182	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	1643320	48688182	106582378	47	38102											
FOXO4	4303	broad.mit.edu	37	chrX	70321220	70321220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccaccaccccctgctgaCgtcctcatgacccaggtaga	8	18	1	3	rs199679716		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:70321220C>T	ENST00000374259.3	+	2	1472	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	FOXO4_ENST00000341558.3_Silent_p.D325D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	380					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCCCTGCTGACGTCCTCATGA	0.652																																						ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(1138-1140)gaC>gaT		forkhead box O4		T	,	0,3432		0,0,0,1431,570	26	27	26		975,1140	3.9	1	X		26	5,6485		0,4,1,2345,1791	no	coding-synonymous,coding-synonymous	FOXO4	NM_001170931.1,NM_005938.3	,	0,4,1,3776,2361	TT,TC,T,CC,C		0.077,0.0,0.0504	,	325/451,380/506	70321220	5,9917	2001	4141	6142	SO:0001819	synonymous_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70321220C>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"Forkhead boxes"	7139	protein-coding gene	gene with protein product		300033	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1140C>T	X.37:g.70321220C>T						FOXO4_ENST00000341558.3_Silent_p.D325D	p.D380D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN			2	1472	+	Renal(35;0.156)		380					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	c.1140C>T	CCDS43969.1																																																																																				0.652	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		6	42	0	0	0	1	0	6	42					T	70321220	C	T	70321220	2	4	457	1	0	0	0	0	0	0	0	1	6025	535	19	1		1	FOXO4	23	70321220	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	21633038	70321220	84949340	48	38103											
ATRX	546	broad.mit.edu	37	chrX	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-													cagactgggtttgtcgtttcTttttagaaattatagagctc							TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					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						TTGTCGTTTCTTTTTAGAAAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2416-2418)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						97	106	103					X																	76938331		2201	4293	6494	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938331delT	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.2417delA	X.37:g.76938331delT	ENSP00000362441:p.Lys807fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs	p.K807fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2631	-			807					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2417delA	CCDS14434.1																																																																																				0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		179	185						179	185	---	---	---	---	-	76938331	T	-	76938331	7	5	457	1	0	1	0	1	0	0	0	0	1208	1609	56	0	5169	0	ATRX	23	76938331	Frame_Shift_Del	DEL	T	TCGA-S9-A7R8-01A-11D-A34J-08	6617111	76938331	78332229	49	38104			1	46		2	2	14	N	T	2.141675e-05
ATRX	546	broad.mit.edu	37	chrX	76938344	76938344	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttctttttagaaattaTagagctcttagctgatttgc	7	6	2	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938344T>C	ENST00000373344.5	-	9	2618	c.2404A>G	c.(2404-2406)Ata>Gta	p.I802V	ATRX_ENST00000395603.3_Missense_Mutation_p.I764V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	802					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						TTAGAAATTATAGAGCTCTTA	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2404-2406)Ata>Gta		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						102	111	108					X																	76938344		2201	4293	6494	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938344T>C	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.2404A>G	X.37:g.76938344T>C	ENSP00000362441:p.Ile802Val					ATRX_ENST00000395603.3_Missense_Mutation_p.I764V|ATRX_ENST00000480283.1_5'UTR	p.I802V	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2618	-			802					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2404A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	0.902	-0.721958	0.03182	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91894	-2.92;-2.93	5.73	3.2	0.36748	.	0.431580	0.21370	N	0.075650	D	0.85344	0.5675	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.69053	-0.5247	10	0.21540	T	0.41	-0.1374	3.263	0.06855	0.1726:0.3008:0.0:0.5266	.	802;734;764;802	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	V	802;764;729	ENSP00000362441:I802V;ENSP00000378967:I764V	ENSP00000362441:I802V	I	-	1	0	ATRX	76825000	0.001000	0.12720	0.461000	0.27105	0.906000	0.53458	0.184000	0.16939	0.231000	0.21079	0.380000	0.24917	ATA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		188	186	0	0	0	1	0	188	186					C	76938344	T	C	76938344	3	2	457	1	0	0	0	0	1	0	0	0	1208	1406	49	3	5182	3	ATRX	23	76938344	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	13	76938344	78332216	50	38105			1	46		2	2	14	N	T	2.141675e-05
DCAF12L2	340578	broad.mit.edu	37	chrX	125298550	125298550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtagttcccatggaggCctgaagggagaggcccccca	14	13	0	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:125298550C>T	ENST00000360028.2	-	1	1384	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G453D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	453										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						CCCATGGAGGCCTGAAGGGAG	0.547																																						ENST00000538699.1																			0				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						c.(1357-1359)gGc>gAc		DDB1 and CUL4 associated factor 12-like 2							63	66	65					X																	125298550		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298550C>T	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.1358G>A	X.37:g.125298550C>T	ENSP00000353128:p.Gly453Asp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G453D	p.G453D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1438	-			453					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1358G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899363	0.52227	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.19394	2.15;2.15	3.93	3.93	0.45458	.	0.000000	0.36972	N	0.002301	T	0.18215	0.0437	L	0.52573	1.65	0.47341	D	0.999396	P	0.35077	0.483	B	0.27887	0.084	T	0.05419	-1.0886	10	0.44086	T	0.13	.	12.9304	0.58284	0.0:1.0:0.0:0.0	.	453	Q5VW00	DC122_HUMAN	D	453	ENSP00000441489:G453D;ENSP00000353128:G453D	ENSP00000353128:G453D	G	-	2	0	DCAF12L2	125126231	1.000000	0.71417	0.985000	0.45067	0.959000	0.62525	6.814000	0.75236	2.209000	0.71365	0.600000	0.82982	GGC		0.547	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		57	71	0	0	0	1	0	57	71					T	125298550	C	T	125298550	3	4	457	1	0	0	0	0	1	0	0	0	4265	739	26	2	37	2	DCAF12L2	23	125298550	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	48360206	125298550	29972010	51	38106											
C1orf125	126859	broad.mit.edu	37	chr1	179354494	179354494	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacttctgtctaaagtcaGgttagtgctgttattggaat	10	5	3	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:179354494G>A	ENST00000367618.3	+	9	1250	c.863G>A	c.(862-864)aGa>aAa	p.R288K	AXDND1_ENST00000457238.2_Splice_Site_p.R288K|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	288										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCTAAAGTCAGGTTAGTGCTG	0.358																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.e9+1		axonemal dynein light chain domain containing 1							180	178	179					1																	179354494		2203	4300	6503	SO:0001630	splice_region_variant	126859							g.chr1:179354494G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.863+1G>A	1.37:g.179354494G>A						AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.R288_splice	p.R288_splice	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			9	1250	+			288					Q6AWB2|Q96LJ3|Q96M01	Splice_Site	SNP	ENST00000367618.3	37	c.863_splice	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	35	5.564826	0.96527	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.58506	1.53;0.33;1.66	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.86178	2.8	0.50313	D	0.999861	D;D;D	0.89917	0.979;0.992;1.0	D;D;D	0.83275	0.982;0.989;0.996	T	0.81263	-0.1012	10	0.59425	D	0.04	-7.083	17.357	0.87338	0.0:0.0:1.0:0.0	.	246;288;288	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	K	288;246;288;222	ENSP00000356590:R288K;ENSP00000416712:R288K;ENSP00000391716:R222K	ENSP00000353471:R246K	R	+	2	0	AXDND1	177621117	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.393000	0.90182	2.699000	0.92147	0.655000	0.94253	AGA		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	Missense_Mutation	15	46	0	0	0	1	0	15	46					A	179354494	G	A	179354494	5	1	458	1	0	0	0	0	0	0	1	0	1993	1014	35	2	893	2	C1orf125	1	179354494	Splice_Site	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		179354494	69896127	1	38107											
HMCN1	83872	broad.mit.edu	37	chr1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatttcctgggatgaccGggttaacgtgttgtccaaca	10	10	1	1	rs374051668		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				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						TGGGATGACCGGGTTAACGTG	0.433																																						ENST00000271588.4																			0				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						c.(13453-13455)cGg>cAg		hemicentin 1							107	111	110					1																	186105941		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186105941G>A	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.13454G>A	1.37:g.186105941G>A	ENSP00000271588:p.Arg4485Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			87	13683	+			4485			Ig-like C2-type 44.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.13454G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967589	0.74131	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.37411	1.2;1.2	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055113	0.64402	D	0.000001	T	0.63674	0.2531	M	0.80508	2.5	0.47547	D	0.999454	D	0.89917	1.0	D	0.79784	0.993	T	0.64032	-0.6502	10	0.41790	T	0.15	.	19.08	0.93178	0.0:0.0:1.0:0.0	.	4485	Q96RW7	HMCN1_HUMAN	Q	4485	ENSP00000271588:R4485Q;ENSP00000356462:R4485Q	ENSP00000271588:R4485Q	R	+	2	0	HMCN1	184372564	1.000000	0.71417	0.891000	0.34965	0.283000	0.27025	6.001000	0.70685	2.587000	0.87381	0.655000	0.94253	CGG		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		14	57	0	0	0	1	0	14	57					A	186105941	G	A	186105941	3	1	458	1	0	0	0	0	1	0	0	0	7220	1116	39	1	13800	1	HMCN1	1	186105941	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	6751447	186105941	63144680	2	38108											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198492549	198492549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgtagttcacatggAtttctggtttcatgtcacag	10	8	5	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198492549A>G	ENST00000367382.1	-	3	413	c.329T>C	c.(328-330)aTc>aCc	p.I110T	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	110					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)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GTTCACATGGATTTCTGGTTT	0.393																																						ENST00000367381.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(346-348)aTc>aCc		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							172	142	152					1																	198492549		2203	4300	6503	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198492549A>G	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"ATPases / V-type"	18265	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.329T>C	1.37:g.198492549A>G	ENSP00000356352:p.Ile110Thr					ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.I110T	p.I116T			Q96LB4	VATG3_HUMAN			5	452	-			110					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.347T>C	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867226	0.51588	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.47869	0.83;0.85;0.83;0.85	4.84	4.84	0.62591	.	0.290969	0.39083	N	0.001476	T	0.52933	0.1765	M	0.81497	2.545	0.32054	N	0.596551	P;B	0.37330	0.59;0.319	B;B	0.37943	0.261;0.134	T	0.69829	-0.5039	10	0.87932	D	0	-19.1021	14.0499	0.64730	1.0:0.0:0.0:0.0	.	116;110	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	T	110;116;110;116	ENSP00000356352:I110T;ENSP00000356351:I116T;ENSP00000281087:I110T;ENSP00000417171:I116T	ENSP00000281087:I110T	I	-	2	0	ATP6V1G3	196759172	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	4.599000	0.61076	2.154000	0.67381	0.533000	0.62120	ATC		0.393	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		6	31	0	0	0	1	0	6	31					G	198492549	A	G	198492549	3	3	458	1	0	0	0	0	1	0	0	0	1188	333	12	3	31	3	ATP6V1G3	1	198492549	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	12386608	198492549	50758072	3	38109											
PTPRC	5788	broad.mit.edu	37	chr1	198719744	198719744	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttatgctgacagaactgaaaCatggagaccaggtttgtact	10	7	0	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198719744C>G	ENST00000367376.2	+	29	3361	c.3190C>G	c.(3190-3192)Cat>Gat	p.H1064D	PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1064	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						AGAACTGAAACATGGAGACCA	0.413																																						ENST00000367376.2																			0				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						c.(3190-3192)Cat>Gat		protein tyrosine phosphatase, receptor type, C							142	139	140					1																	198719744		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719744C>G	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.3190C>G	1.37:g.198719744C>G	ENSP00000356346:p.His1064Asp					PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D|PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D	p.H1064D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3361	+			1064			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3190C>G		.	.	.	.	.	.	.	.	.	.	C	2.065	-0.414384	0.04766	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.12361	2.69	5.79	0.663	0.17885	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	1.460060	0.04405	N	0.365035	T	0.03434	0.0099	N	0.00204	-1.855	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.29549	-1.0008	10	0.37606	T	0.19	.	6.0925	0.20003	0.3527:0.3768:0.2705:0.0	.	905;1016;1064	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	D	1066;1016;1064;903	ENSP00000193532:H1016D	ENSP00000306782:H903D	H	+	1	0	PTPRC	196986367	0.019000	0.18553	0.000000	0.03702	0.006000	0.05464	1.282000	0.33226	0.121000	0.18284	0.557000	0.71058	CAT		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	125	0	0	0	1	0	4	125					G	198719744	C	G	198719744	3	3	458	1	0	0	0	0	1	0	0	0	12797	478	17	4	3311	4	PTPRC	1	198719744	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	227195	198719744	50530877	4	38110											
JMJD4	65094	broad.mit.edu	37	chr1	227920211	227920211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgcaaccaaggaggccAgcacctctgtgatgcgccca	13	14	1	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:227920211A>G	ENST00000366758.3	-	6	1273	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	SNAP47_ENST00000315781.5_5'Flank|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	425										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAAGGAGGCCAGCACCTCTGT	0.612																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1273-1275)cTg>cCg		jumonji domain containing 4							99	80	87					1																	227920211		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920211A>G	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1274T>C	1.37:g.227920211A>G	ENSP00000355720:p.Leu425Pro					SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|JMJD4_ENST00000485807.1_5'UTR	p.L425P	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			6	1273	-		Prostate(94;0.0885)	425					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.1274T>C	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.03|16.03	3.006101|3.006101	0.54361|0.54361	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.32753|.	1.44|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.141579|.	0.48286|.	D|.	0.000183|.	T|T	0.72358|0.72358	0.3450|0.3450	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.979|.	T|T	0.73582|0.73582	-0.3937|-0.3937	10|5	0.87932|.	D|.	0|.	-22.3965|-22.3965	12.2654|12.2654	0.54674|0.54674	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	409;425|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	P|R	425|402	ENSP00000355720:L425P|.	ENSP00000355720:L425P|.	L|W	-|-	2|1	0|0	JMJD4|JMJD4	225986834|225986834	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.206000|0.206000	0.24218|0.24218	7.329000|7.329000	0.79170|0.79170	2.002000|2.002000	0.58637|0.58637	0.379000|0.379000	0.24179|0.24179	CTG|TGG		0.612	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		10	48	0	0	0	1	0	10	48					G	227920211	A	G	227920211	3	3	458	1	0	0	0	0	1	0	0	0	7951	188	7	3	121	3	JMJD4	1	227920211	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	29200467	227920211	21330410	5	38111											
DNMT3A	1788	broad.mit.edu	37	chr2	25464457	25464457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgtgtgacgctgcggacgtCcccgacgtacatgatcttcc	11	14	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:25464457C>A	ENST00000264709.3	-	17	2393	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	686	S-adenosyl-L-methionine binding. {ECO:0000305}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				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)	p.D686G(1)		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)					CTGCGGACGTCCCCGACGTAC	0.627			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.D686G(1)	haematopoietic_and_lymphoid_tissue(1)	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						c.(2056-2058)Gac>Tac		DNA (cytosine-5-)-methyltransferase 3 alpha							138	95	110					2																	25464457		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25464457C>A		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.2056G>T	2.37:g.25464457C>A	ENSP00000264709:p.Asp686Tyr					DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000474887.1_5'UTR	p.D686Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			17	2393	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		686					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2056G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978329	0.92982	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99032	1.0821	10	0.87932	D	0	-14.5951	17.824	0.88658	0.0:1.0:0.0:0.0	.	686;497	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Y	497;686;686;463	ENSP00000370122:D497Y;ENSP00000324375:D686Y;ENSP00000264709:D686Y;ENSP00000384237:D463Y	ENSP00000264709:D686Y	D	-	1	0	DNMT3A	25317961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.568000	0.86640	0.555000	0.69702	GAC		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		11	22	1	0	0.000673444	1	0.000707116	11	22					A	25464457	C	A	25464457	3	1	458	1	0	0	0	0	1	0	0	0	4676	855	30	4	710	4	DNMT3A	2	25464457	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		25464457	217734916	6	38112											
YSK4	80122	broad.mit.edu	37	chr2	135744237	135744237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaattaagactttgtgCtcttgtttaatgccaaatga	7	5	1	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:135744237C>T	ENST00000375845.3	-	7	2235	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E	MAP3K19_ENST00000392915.1_Silent_p.E752E|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E622E|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	735							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										AGACTTTGTGCTCTTGTTTAA	0.373																																						ENST00000375845.3																			0											c.(2203-2205)gaG>gaA		mitogen-activated protein kinase kinase kinase 19							85	83	84					2																	135744237		2203	4300	6503	SO:0001819	synonymous_variant	80122							g.chr2:135744237C>T	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.2205G>A	2.37:g.135744237C>T						MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.E622E|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.E752E|MAP3K19_ENST00000392918.3_Intron	p.E735E	NM_025052.3	NP_079328.3					7	2235	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.2205G>A	CCDS2176.2																																																																																				0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		11	97	0	0	0	1	0	11	97					T	135744237	C	T	135744237	2	4	458	1	0	0	0	0	0	0	0	1	17492	796	28	2		2	YSK4	2	135744237	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	110279780	135744237	107455136	7	38113											
PKP4	8502	broad.mit.edu	37	chr2	159459581	159459581	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttctttctttttctttaGctcaactgagaagtcatttc	4	8	5	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:159459581G>A	ENST00000389759.3	+	4	357		c.e4-1		PKP4_ENST00000389757.3_Splice_Site	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4						cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTTCTTTAGCTCAACTGAG	0.259										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.e4-1		plakophilin 4							39	47	44					2																	159459581		2180	4268	6448	SO:0001630	splice_region_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159459581G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.246-1G>A	2.37:g.159459581G>A		HNSCC(62;0.18)				PKP4_ENST00000389759.3_Splice_Site		NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			4	370	+								Q86W91	Splice_Site	SNP	ENST00000389759.3	37		CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949876	0.53186	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2074	0.73190	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKP4	159167827	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	5.266000	0.65525	2.745000	0.94114	0.484000	0.47621	.		0.259	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		Intron	5	70	0	0	0	1	0	5	70					A	159459581	G	A	159459581	5	1	458	1	0	0	0	0	0	0	1	0	11987	985	34	2	255	2	PKP4	2	159459581	Splice_Site	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	23715344	159459581	83739792	8	38114											
PLA2R1	22925	broad.mit.edu	37	chr2	160901539	160901539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctatgttaaagaggCcatggtttgaaacccatttc	8	10	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:160901539C>T	ENST00000283243.7	-	2	445	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	80	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTAAAGAGGCCATGGTTTGA	0.478																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(238-240)gGc>gAc		phospholipase A2 receptor 1, 180kDa							74	68	70					2																	160901539		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160901539C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.239G>A	2.37:g.160901539C>T	ENSP00000283243:p.Gly80Asp					PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			2	445	-			80			Ricin B-type lectin.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.239G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075655	0.20227	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.27256	1.68;1.68	6.07	-1.87	0.07737	Ricin B-related lectin (1);Ricin B lectin (2);	0.623267	0.17943	N	0.156771	T	0.15219	0.0367	N	0.14661	0.345	0.09310	N	1	B;B;B	0.30973	0.044;0.302;0.201	B;B;B	0.32289	0.053;0.143;0.107	T	0.16453	-1.0402	10	0.66056	D	0.02	.	13.8798	0.63676	0.0:0.5376:0.0:0.4624	.	80;80;80	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	80	ENSP00000283243:G80D;ENSP00000376524:G80D	ENSP00000283243:G80D	G	-	2	0	PLA2R1	160609785	0.002000	0.14202	0.010000	0.14722	0.557000	0.35523	-0.088000	0.11198	-0.447000	0.07138	-0.302000	0.09304	GGC		0.478	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			15	38	0	0	0	1	0	15	38					T	160901539	C	T	160901539	3	4	458	1	0	0	0	0	1	0	0	0	12010	739	26	2	4276	2	PLA2R1	2	160901539	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	1441958	160901539	82297834	9	38115											
LRP2	4036	broad.mit.edu	37	chr2	170093622	170093622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcttacttcattctgGgatctaatgctagtcctctt	6	9	5	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:170093622G>A	ENST00000263816.3	-	28	4967	c.4682C>T	c.(4681-4683)cCc>cTc	p.P1561L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1561					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)"	CTTCATTCTGGGATCTAATGC	0.368																																						ENST00000263816.3																			0				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						c.(4681-4683)cCc>cTc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						116	114	115					2																	170093622		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093622G>A		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.4682C>T	2.37:g.170093622G>A	ENSP00000263816:p.Pro1561Leu						p.P1561L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4967	-			1561					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4682C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988758	0.93106	.	.	ENSG00000081479	ENST00000263816	D	0.95518	-3.73	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98548	0.9515	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.87932	D	0	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	1561	P98164	LRP2_HUMAN	L	1561	ENSP00000263816:P1561L	ENSP00000263816:P1561L	P	-	2	0	LRP2	169801868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.779000	0.99018	2.639000	0.89480	0.650000	0.86243	CCC		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		9	69	0	0	0	1	0	9	69					A	170093622	G	A	170093622	3	1	458	1	0	0	0	0	1	0	0	0	8956	1232	43	2	9493	2	LRP2	2	170093622	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9192083	170093622	73105751	10	38116											
CXCR2	3579	broad.mit.edu	37	chr2	218999635	218999635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttttctactagatgccgcCccatgtgaaccagaatccct	6	15	1	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:218999635C>T	ENST00000318507.2	+	3	538	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TAGATGCCGCCCCATGTGAAC	0.458																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(109-111)gcC>gcT		chemokine (C-X-C motif) receptor 2							139	136	137					2																	218999635		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999635C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.111C>T	2.37:g.218999635C>T							p.A37A	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	538	+			37					Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.111C>T	CCDS2408.1																																																																																				0.458	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		23	89	0	0	0	1	0	23	89					T	218999635	C	T	218999635	2	4	458	1	0	0	0	0	0	0	0	1	4091	610	22	2		2	CXCR2	2	218999635	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	48906013	218999635	24199738	11	38117											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344613	69344613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggtgactctcatagaCgctacaacttgcaatgaacc	8	12	1	3	rs144869043		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr4:69344613C>T	ENST00000305363.4	+	9	1078	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	338	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTCTCATAGACGCTACAACTT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18028	0.0		0.0	False		,,,				2504	0.001					ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(1012-1014)gaC>gaT		transmembrane protease, serine 11E		C		0,4406		0,0,2203	170	162	164		1014	1.6	0.2	4	dbSNP_134	164	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	TMPRSS11E	NM_014058.3		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		338/424	69344613	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69344613C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1014C>T	4.37:g.69344613C>T							p.D338D	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			9	1078	+			338			Peptidase S1.		A6NL71|Q14DC8|Q6UW31	Silent	SNP	ENST00000305363.4	37	c.1014C>T	CCDS33993.1																																																																																				0.363	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		31	204	0	0	0	1	0	31	204					T	69344613	C	T	69344613	2	4	458	1	0	0	0	0	0	0	0	1	16239	535	19	1		1	TMPRSS11E	4	69344613	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		69344613	121809663	12	38118											
PKD2L2	27039	broad.mit.edu	37	chr5	137259133	137259133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttcttggcaattattaatGatacctattctgaagtgaaa	7	5	2	3	rs375362258		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:137259133G>T	ENST00000508883.1	+	10	1500	c.1474G>T	c.(1474-1476)Gat>Tat	p.D492Y	PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y|PKD2L2_ENST00000508638.1_Missense_Mutation_p.D391Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	492					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTATTAATGATACCTATTC	0.274																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1171-1173)Gat>Tat		polycystic kidney disease 2-like 2							62	59	60					5																	137259133		1791	4053	5844	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137259133G>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"Voltage-gated ion channels / Transient receptor potential cation channels"	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1474G>T	5.37:g.137259133G>T	ENSP00000424725:p.Asp492Tyr					PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y|PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y|PKD2L2_ENST00000508883.1_Missense_Mutation_p.D492Y	p.D391Y	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1226	+			391					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1171G>T		.	.	.	.	.	.	.	.	.	.	G	15.49	2.849684	0.51270	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.72725	-0.68;-0.08;-0.68;-0.68;-0.68	5.4	4.52	0.55395	Polycystin cation channel, PKD1/PKD2 (1);	0.080274	0.52532	N	0.000065	T	0.80959	0.4724	M	0.84082	2.675	0.49798	D	0.999823	P;P;B	0.51653	0.711;0.947;0.197	P;P;B	0.53224	0.721;0.453;0.063	D	0.84495	0.0613	10	0.87932	D	0	-12.2795	15.0849	0.72145	0.0:0.0:0.8568:0.1432	.	492;391;492	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	Y	458;391;470;492;492	ENSP00000344177:D458Y;ENSP00000423382:D391Y;ENSP00000425513:D470Y;ENSP00000424725:D492Y;ENSP00000290431:D492Y	ENSP00000290431:D492Y	D	+	1	0	PKD2L2	137287032	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.251000	0.58778	1.248000	0.43934	0.591000	0.81541	GAT		0.274	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		9	88	1	0	0.000978159	1	0.00101023	9	88					T	137259133	G	T	137259133	3	4	458	1	0	0	0	0	1	0	0	0	11968	1290	45	4	1512	4	PKD2L2	5	137259133	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		137259133	43656127	13	38119											
AFAP1L1	134265	broad.mit.edu	37	chr5	148699992	148699992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcagtggcctgagccccGagtctatgatgatgttcctt	11	10	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:148699992G>A	ENST00000296721.4	+	14	1762	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	555						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)			CCTGAGCCCCGAGTCTATGAT	0.458																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1663-1665)cGa>cAa		actin filament associated protein 1-like 1							114	106	109					5																	148699992		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148699992G>A	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.1664G>A	5.37:g.148699992G>A	ENSP00000296721:p.Arg555Gln					AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1762	+			555					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1664G>A	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178948	0.57692	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.16743	2.32;2.32	5.41	4.54	0.55810	.	0.214512	0.35291	N	0.003303	T	0.26738	0.0654	L	0.58101	1.795	0.42862	D	0.994117	D;P	0.62365	0.991;0.913	P;B	0.55087	0.768;0.121	T	0.02121	-1.1210	10	0.41790	T	0.15	-11.2794	8.0161	0.30383	0.084:0.171:0.7451:0.0	.	555;555	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	Q	555	ENSP00000296721:R555Q;ENSP00000424427:R555Q	ENSP00000296721:R555Q	R	+	2	0	AFAP1L1	148680185	1.000000	0.71417	0.902000	0.35471	0.958000	0.62258	4.062000	0.57492	1.544000	0.49359	-0.122000	0.15005	CGA		0.458	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		5	50	0	0	0	1	0	5	50					A	148699992	G	A	148699992	3	1	458	1	0	0	0	0	1	0	0	0	354	1058	37	1	1718	1	AFAP1L1	5	148699992	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	11440859	148699992	32215268	14	38120											
HMMR	3161	broad.mit.edu	37	chr5	162909742	162909742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgggaaaaatgcagagGatgttcagcatcagattttg	13	5	2	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:162909742G>A	ENST00000358715.3	+	13	1513	c.1477G>A	c.(1477-1479)Gat>Aat	p.D493N	HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.D494N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	493					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAATGCAGAGGATGTTCAGCA	0.378																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1135-1137)Gat>Aat		hyaluronan-mediated motility receptor (RHAMM)							82	82	82					5																	162909742		2203	4300	6503	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162909742G>A	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1477G>A	5.37:g.162909742G>A	ENSP00000351554:p.Asp493Asn					HMMR_ENST00000358715.3_Missense_Mutation_p.D493N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N|HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|HMMR_ENST00000393915.4_Missense_Mutation_p.D494N	p.D379N			O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	13	1632	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	493					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.1135G>A	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905391	0.33628	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.43	4.53	0.55603	.	0.586050	0.18876	N	0.128718	T	0.22742	0.0549	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.994	P;D;P;P	0.69479	0.869;0.964;0.827;0.869	T	0.02560	-1.1141	10	0.31617	T	0.26	-23.9706	14.6144	0.68539	0.0:0.1576:0.8424:0.0	.	407;494;478;493	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	N	379;478;494;470;407;493	ENSP00000400527:D379N;ENSP00000185942:D478N;ENSP00000377492:D494N;ENSP00000402673:D407N;ENSP00000351554:D493N	ENSP00000185942:D478N	D	+	1	0	HMMR	162842320	0.997000	0.39634	0.408000	0.26446	0.040000	0.13550	3.021000	0.49651	2.810000	0.96702	0.650000	0.86243	GAT		0.378	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		18	46	0	0	0	1	0	18	46					A	162909742	G	A	162909742	3	1	458	1	0	0	0	0	1	0	0	0	7242	1174	41	2	1530	2	HMMR	5	162909742	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	14209750	162909742	18005518	15	38121											
CCDC99	54908	broad.mit.edu	37	chr5	169028287	169028287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtttttattctcagagaCagttgaagtgcctgtactga	9	8	1	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:169028287C>T	ENST00000265295.4	+	11	1607	c.1328C>T	c.(1327-1329)aCa>aTa	p.T443I		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TTCTCAGAGACAGTTGAAGTG	0.418																																						ENST00000265295.4																			0											c.(1327-1329)aCa>aTa		spindle apparatus coiled-coil protein 1							55	58	57					5																	169028287		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169028287C>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1328C>T	5.37:g.169028287C>T	ENSP00000265295:p.Thr443Ile						p.T443I	NM_017785.4	NP_060255.3					11	1607	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1328C>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	C	6.762	0.509521	0.12883	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.31510	1.49	5.68	0.796	0.18648	.	0.613475	0.18037	N	0.153756	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.15636	-1.0430	10	0.36615	T	0.2	-3.0982	2.6233	0.04922	0.2307:0.4479:0.0916:0.2298	.	365;344;443	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	I	443;344	ENSP00000265295:T443I	ENSP00000265295:T443I	T	+	2	0	CCDC99	168960865	0.058000	0.20735	0.829000	0.32907	0.603000	0.37013	0.465000	0.22004	0.120000	0.18254	0.585000	0.79938	ACA		0.418	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		14	24	0	0	0	1	0	14	24					T	169028287	C	T	169028287	3	4	458	1	0	0	0	0	1	0	0	0	2876	478	17	2	1366	2	CCDC99	5	169028287	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	6118545	169028287	11886973	16	38122											
FLT4	2324	broad.mit.edu	37	chr5	180038363	180038363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcgctgcaggcttggCgggctgtcctcagcgtcagc	16	13	2	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:180038363C>T	ENST00000261937.6	-	27	3732	c.3654G>A	c.(3652-3654)ccG>ccA	p.P1218P	FLT4_ENST00000393347.3_Silent_p.P1218P|FLT4_ENST00000502649.1_Silent_p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1218					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|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 signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGCTTGGCGGGCTGTCCT	0.637																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3652-3654)ccG>ccA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						69	72	71					5																	180038363		2203	4299	6502	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038363C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3654G>A	5.37:g.180038363C>T						FLT4_ENST00000502649.1_Silent_p.P1218P|FLT4_ENST00000393347.3_Silent_p.P1218P	p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3732	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1218					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.3654G>A	CCDS4457.1																																																																																				0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			15	97	0	0	0	1	0	15	97					T	180038363	C	T	180038363	2	4	458	1	0	0	0	0	0	0	0	1	5944	755	27	1		1	FLT4	5	180038363	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	11010076	180038363	876897	17	38123											
SYCP2L	221711	broad.mit.edu	37	chr6	10956459	10956459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaacttcactaaaaaacGgaaaagaaaatatgaggtag	8	4	1	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:10956459G>T	ENST00000283141.6	+	25	2443	c.2147G>T	c.(2146-2148)cGg>cTg	p.R716L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTAAAAAACGGAAAAGAAAA	0.388																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2146-2148)cGg>cTg		synaptonemal complex protein 2-like							55	50	52					6																	10956459		1809	4078	5887	SO:0001583	missense	221711					nucleus		g.chr6:10956459G>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2147G>T	6.37:g.10956459G>T	ENSP00000283141:p.Arg716Leu						p.R716L	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		25	2443	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	716					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2147G>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	0.229	-1.022793	0.02061	.	.	ENSG00000153157	ENST00000283141	T	0.11169	2.8	5.76	4.6	0.57074	.	0.094549	0.42420	N	0.000718	T	0.00496	0.0016	N	0.00092	-2.175	0.22827	N	0.998682	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	10	0.02654	T	1	-0.6429	10.1683	0.42893	0.0:0.0:0.1681:0.8319	.	716	Q5T4T6	SYC2L_HUMAN	L	716	ENSP00000283141:R716L	ENSP00000283141:R716L	R	+	2	0	SYCP2L	11064445	0.657000	0.27393	0.015000	0.15790	0.002000	0.02628	2.231000	0.43009	1.005000	0.39183	-0.264000	0.10439	CGG		0.388	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		4	15	1	0	0.00909568	1	0.00924238	4	15					T	10956459	G	T	10956459	3	4	458	1	0	0	0	0	1	0	0	0	15430	1116	39	4	2245	4	SYCP2L	6	10956459	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		10956459	160158608	18	38124											
ARMC2	84071	broad.mit.edu	37	chr6	109286254	109286254	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtttgtaaaactttatGgaacttcagtgaaaacatca	7	6	2	1	rs201757827		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:109286254G>A	ENST00000392644.4	+	17	2525	c.2357G>A	c.(2356-2358)tGg>tAg	p.W786*	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	786										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)		AAAACTTTATGGAACTTCAGT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17343	0.0		0.001	False		,,,				2504	0.0					ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.(2356-2358)tGg>tAg		armadillo repeat containing 2							195	194	194					6																	109286254		2203	4300	6503	SO:0001587	stop_gained	84071						binding	g.chr6:109286254G>A	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.2357G>A	6.37:g.109286254G>A	ENSP00000376417:p.Trp786*					ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*|ARMC2_ENST00000481850.1_3'UTR	p.W786*	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	17	2525	+		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)	786					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Nonsense_Mutation	SNP	ENST00000392644.4	37	c.2357G>A	CCDS5069.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	42	9.816442	0.99271	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	.	.	.	4.89	4.89	0.63831	.	0.056711	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8453	0.88728	0.0:0.0:1.0:0.0	.	.	.	.	X	621;786	.	ENSP00000357968:W621X	W	+	2	0	ARMC2	109392947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.546000	0.85860	0.555000	0.69702	TGG		0.373	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		16	166	0	0	0	1	0	16	166					A	109286254	G	A	109286254	4	1	458	1	0	0	0	0	0	1	0	0	951	1357	47	2	2419	2	ARMC2	6	109286254	Nonsense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	98329795	109286254	61828813	19	38125											
AKAP7	9465	broad.mit.edu	37	chr6	131574228	131574228	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagagatacagcaaggataTacccagttggtcaagtggta	11	7	1	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:131574228T>C	ENST00000431975.2	+	8	948				AKAP7_ENST00000342266.4_Intron|AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000474850.2_Missense_Mutation_p.I34T|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000263050.3_Intron	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7							cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGCAAGGATATACCCAGTTGG	0.443																																						ENST00000474850.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13						c.(100-102)aTa>aCa		A kinase (PRKA) anchor protein 7							154	150	151					6																	131574228		2203	4300	6503	SO:0001627	intron_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131574228T>C	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"A-kinase anchor proteins"	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.851-28442T>C	6.37:g.131574228T>C						AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000342266.4_Intron	p.I34T	NM_138633.2	NP_619539.1	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	2	239	+	Breast(56;0.152)		34			Required for apical membrane localization.		B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.101T>C	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	T	7.350	0.622690	0.14193	.	.	ENSG00000118507	ENST00000474850	.	.	.	5.28	-6.61	0.01818	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.34650	-0.9820	8	0.37606	T	0.19	.	13.2684	0.60148	0.0:0.0746:0.7107:0.2147	.	34	O43687	AKA7A_HUMAN	T	34	.	ENSP00000418208:I34T	I	+	2	0	AKAP7	131615921	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-0.433000	0.06948	-0.809000	0.04381	0.454000	0.30748	ATA		0.443	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		14	28	0	0	0	1	0	14	28					C	131574228	T	C	131574228	1	2	458	0	1	0	0	0	0	0	0	0	456	1406	49	3		3	AKAP7	6	131574228	Intron	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	22287974	131574228	39540839	20	38126											
ULBP3	79465	broad.mit.edu	37	chr6	150387184	150387184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagataagaccttgtcactgCcacagtcataggagagaaaa	9	8	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:150387184C>T	ENST00000367339.2	-	2	231	c.203G>A	c.(202-204)gGc>gAc	p.G68D	ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	68	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTTGTCACTGCCACAGTCATA	0.498																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(202-204)gGc>gAc		UL16 binding protein 3							163	153	156					6																	150387184		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387184C>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.203G>A	6.37:g.150387184C>T	ENSP00000356308:p.Gly68Asp					ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D	p.G68D			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	231	-		Ovarian(120;0.12)	68			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.203G>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084879	0.20309	.	.	ENSG00000131019	ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00640	6.03;6.03	3.18	-0.352	0.12598	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00210	0.0006	N	0.20685	0.6	0.09310	N	1	P	0.38551	0.636	B	0.43225	0.412	T	0.17653	-1.0362	9	0.18276	T	0.48	-0.9868	2.9719	0.05925	0.2061:0.5112:0.0:0.2827	.	68	Q9BZM4	N2DL3_HUMAN	D	68	ENSP00000356308:G68D;ENSP00000403562:G68D	ENSP00000253335:G68D	G	-	2	0	ULBP3	150428877	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.520000	0.00443	-0.076000	0.12775	0.478000	0.44815	GGC		0.498	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			24	93	0	0	0	1	0	24	93					T	150387184	C	T	150387184	3	4	458	1	0	0	0	0	1	0	0	0	16971	739	26	2	542	2	ULBP3	6	150387184	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	18812956	150387184	20727883	21	38127											
TNRC18	84629	broad.mit.edu	37	chr7	5360010	5360010	+	Frame_Shift_Del	DEL	G	G	-													ctccagtaggctgcaatcctGgtcccttgtggcaagaagcg							TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:5360010delG	ENST00000430969.1	-	24	7032	c.6684delC	c.(6682-6684)accfs	p.T2228fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.T2228fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2228							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)		CTGCAATCCTGGTCCCTTGTG	0.597																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(6682-6684)acfs		trinucleotide repeat containing 18							43	42	42					7																	5360010		1561	3571	5132	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5360010delG	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.6684delC	7.37:g.5360010delG	ENSP00000395538:p.Thr2228fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.T2228fs	p.T2228fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	24	7032	-		Ovarian(82;0.142)	2228					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.6684delC	CCDS47534.1																																																																																				0.597	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5360010	G	-	5360010	7	5	458	1	0	1	0	1	0	0	0	0	16336	1335	47	0	2250	0	TNRC18	7	5360010	Frame_Shift_Del	DEL	G	TCGA-S9-A89V-01A-11D-A36O-08		5360010	153778653	22	38128											
RAB19	401409	broad.mit.edu	37	chr7	140111797	140111797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccacgttcgagtccatcCctcactggattcatgagata	9	12	2	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:140111797C>T	ENST00000356407.3	+	2	393	c.325C>T	c.(325-327)Cct>Tct	p.P109S	RAB19_ENST00000537763.1_Missense_Mutation_p.P109S|RAB19_ENST00000275874.5_Missense_Mutation_p.P156S			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	109					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGAGTCCATCCCTCACTGGAT	0.498																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(466-468)Cct>Tct		RAB19, member RAS oncogene family							176	151	160					7																	140111797		2203	4300	6503	SO:0001583	missense	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140111797C>T		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"RAB, member RAS oncogene"	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.325C>T	7.37:g.140111797C>T	ENSP00000348778:p.Pro109Ser					RAB19_ENST00000356407.3_Missense_Mutation_p.P109S|RAB19_ENST00000537763.1_Missense_Mutation_p.P109S	p.P156S			A4D1S5	RAB19_HUMAN			4	664	+	Melanoma(164;0.0142)		109					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.466C>T	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264025	0.23136	.	.	ENSG00000146955	ENST00000495590;ENST00000275874;ENST00000537763;ENST00000356407	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.66	4.78	0.61160	Small GTP-binding protein domain (1);	0.146747	0.64402	D	0.000007	T	0.64702	0.2622	N	0.11154	0.105	0.58432	D	0.999999	P	0.48407	0.91	P	0.48677	0.586	T	0.70992	-0.4721	10	0.62326	D	0.03	.	13.683	0.62499	0.0:0.926:0.0:0.074	.	109	A4D1S5	RAB19_HUMAN	S	109;156;109;109	ENSP00000420782:P109S;ENSP00000275874:P156S;ENSP00000440167:P109S;ENSP00000348778:P109S	ENSP00000275874:P156S	P	+	1	0	RAB19	139758266	1.000000	0.71417	0.332000	0.25469	0.165000	0.22458	3.850000	0.55918	1.402000	0.46780	-0.324000	0.08512	CCT		0.498	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			22	130	0	0	0	1	0	22	130					T	140111797	C	T	140111797	3	4	458	1	0	0	0	0	1	0	0	0	12904	623	22	2	331	2	RAB19	7	140111797	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	134751787	140111797	19026866	23	38129											
KCNQ3	3786	broad.mit.edu	37	chr8	133142022	133142022	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctgactttgtcaatggtCacctggtggaagctgtaggg	16	7	2	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:133142022C>T	ENST00000388996.4	-	15	2526	c.2106G>A	c.(2104-2106)gtG>gtA	p.V702V	KCNQ3_ENST00000519445.1_Silent_p.V690V|KCNQ3_ENST00000521134.1_Silent_p.V582V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGTCAATGGTCACCTGGTGGA	0.527																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2104-2106)gtG>gtA		potassium voltage-gated channel, KQT-like subfamily, member 3							68	63	65					8																	133142022		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142022C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2106G>A	8.37:g.133142022C>T						KCNQ3_ENST00000521134.1_Silent_p.V582V|KCNQ3_ENST00000519445.1_Silent_p.V690V	p.V702V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2526	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		702					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2106G>A	CCDS34943.1																																																																																				0.527	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		13	45	0	0	0	1	0	13	45					T	133142022	C	T	133142022	2	4	458	1	0	0	0	0	0	0	0	1	8084	813	29	2		2	KCNQ3	8	133142022	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		133142022	13222000	24	38130											
AGAP7	653268	broad.mit.edu	37	chr10	51464823	51464823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctcatatttggaacGgatccaccgttccttctctt	5	14	3	0	rs370476894		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:51464823G>A	ENST00000374095.5	-	7	1758	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		545	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)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TATTTGGAACGGATCCACCGT	0.582																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1633-1635)Cgt>Tgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7		G	CYS/ARG	0,4394		0,0,2197	74	93	87		1633		0	10		87	1,8585		0,1,4292	no	missense	AGAP7	NM_001077685.1	180	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	545/664	51464823	1,12979	2197	4293	6490	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51464823G>A																												ENST00000374095.5:c.1633C>T	10.37:g.51464823G>A	ENSP00000363208:p.Arg545Cys						p.R545C	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1758	-			545			Arf-GAP.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1633C>T	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.373392	0.42105	0.0	1.16E-4	ENSG00000204169	ENST00000374095	T	0.50277	0.75	.	.	.	.	0.135172	0.51477	D	0.000085	T	0.74045	0.3665	H	0.97829	4.085	0.58432	D	0.999998	D	0.58970	0.984	D	0.68192	0.956	T	0.72456	-0.4288	9	0.87932	D	0	.	5.9763	0.19382	6.0E-4:0.0:0.9994:0.0	.	545	Q5VUJ5	AGAP7_HUMAN	C	545	ENSP00000363208:R545C	ENSP00000363208:R545C	R	-	1	0	AGAP7	51134829	1.000000	0.71417	0.022000	0.16811	0.022000	0.10575	3.522000	0.53480	0.172000	0.19760	0.175000	0.17021	CGT		0.582	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			4	111	0	0	0	1	0	4	111					A	51464823	G	A	51464823	3	1	458	1	0	0	0	0	1	0	0	0	373	1116	39	1	362	1	AGAP7	10	51464823	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		51464823	84069924	25	38131											
SLC18A2	6571	broad.mit.edu	37	chr10	119017386	119017386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgatggagaccatgtgttCccgaaagtggcagctgggta	15	7	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:119017386C>T	ENST00000298472.5	+	10	1117	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	325					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCATGTGTTCCCGAAAGTGG	0.572																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(973-975)tCc>tTc		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						75	66	69					10																	119017386		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119017386C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.974C>T	10.37:g.119017386C>T	ENSP00000298472:p.Ser325Phe					SLC18A2_ENST00000497497.1_3'UTR	p.S325F	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	10	1117	+		Colorectal(252;0.19)	325					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.974C>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883672	0.72410	.	.	ENSG00000165646	ENST00000298472	T	0.52754	0.65	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.372528	0.31472	N	0.007600	T	0.55321	0.1913	M	0.75777	2.31	0.51482	D	0.999923	B	0.13145	0.007	B	0.25506	0.061	T	0.50320	-0.8842	10	0.41790	T	0.15	-15.2694	20.4384	0.99098	0.0:1.0:0.0:0.0	.	325	Q05940	VMAT2_HUMAN	F	325	ENSP00000298472:S325F	ENSP00000298472:S325F	S	+	2	0	SLC18A2	119007376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.831000	0.97527	0.644000	0.83932	TCC		0.572	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		10	31	0	0	0	1	0	10	31					T	119017386	C	T	119017386	3	4	458	1	0	0	0	0	1	0	0	0	14426	855	30	2	1008	2	SLC18A2	10	119017386	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	67552563	119017386	16517361	26	38132											
SHANK2	22941	broad.mit.edu	37	chr11	70331677	70331677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggcggggggataacaaagCtatctacatcttcttccacg	11	11	3	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:70331677C>A	ENST00000423696.2	-	15	3620	c.3584G>T	c.(3583-3585)aGc>aTc	p.S1195I	SHANK2_ENST00000338508.4_Missense_Mutation_p.S1575I|SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I|SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1195					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gATAACAAAGCTATCTACATC	0.572																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4723-4725)aGc>aTc		SH3 and multiple ankyrin repeat domains 2							93	94	94					11																	70331677		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331677C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3584G>T	11.37:g.70331677C>A	ENSP00000394536:p.Ser1195Ile					SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I|SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1195I	p.S1575I			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4723	-			1195					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4724G>T		.	.	.	.	.	.	.	.	.	.	C	15.28	2.787324	0.49997	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.42	5.42	0.78866	.	0.366135	0.37715	N	0.001980	T	0.40956	0.1138	M	0.75777	2.31	0.80722	D	1	B;P;P	0.51147	0.378;0.942;0.901	B;P;P	0.57425	0.282;0.784;0.82	T	0.24083	-1.0170	10	0.62326	D	0.03	.	12.5544	0.56244	0.0:0.9241:0.0:0.0758	.	1195;1574;979	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	I	979;978;853;1575;1195;1213;1198	ENSP00000399423:S979I;ENSP00000386491:S978I;ENSP00000402944:S853I;ENSP00000345193:S1575I;ENSP00000394536:S1195I;ENSP00000294018:S1198I	ENSP00000294018:S1198I	S	-	2	0	SHANK2	70009325	0.999000	0.42202	0.797000	0.32132	0.998000	0.95712	3.491000	0.53252	2.549000	0.85964	0.655000	0.94253	AGC		0.572	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	127	1	0	1	1	1	5	127					A	70331677	C	A	70331677	3	1	458	1	0	0	0	0	1	0	0	0	14265	797	28	4	836	4	SHANK2	11	70331677	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		70331677	64674839	27	38133											
PGR	5241	broad.mit.edu	37	chr11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcaaactgggtttgacttCgtagcccttccaaaggaact	8	12	1	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000534013.1_Missense_Mutation_p.R242Q|PGR_ENST00000263463.5_Missense_Mutation_p.R734Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGTTTGACTTCGTAGCCCTTC	0.383																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			1	Substitution - Missense(1)	p.R836Q(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2506-2508)cGa>cAa		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						84	82	83					11																	100912815		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100912815C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2507G>A	11.37:g.100912815C>T	ENSP00000325120:p.Arg836Gln					PGR_ENST00000263463.5_Missense_Mutation_p.R734Q|PGR_ENST00000534013.1_Missense_Mutation_p.R242Q	p.R836Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	7	3960	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	836			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2507G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709829	0.89018	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.96716	1.38;1.38;-4.1	5.49	5.49	0.81192	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057039	0.64402	D	0.000001	D	0.95680	0.8595	L	0.39085	1.19	0.33252	D	0.558599	D;D;D	0.69078	0.997;0.994;0.959	P;P;B	0.56960	0.81;0.751;0.328	D	0.97064	0.9773	10	0.56958	D	0.05	.	12.6746	0.56887	0.0:0.9246:0.0:0.0753	.	734;836;217	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	Q	836;242;734	ENSP00000325120:R836Q;ENSP00000436561:R242Q;ENSP00000263463:R734Q	ENSP00000263463:R734Q	R	-	2	0	PGR	100418025	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.509000	0.67012	2.589000	0.87451	0.585000	0.79938	CGA		0.383	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			3	50	0	0	0	1	0	3	50					T	100912815	C	T	100912815	3	4	458	1	0	0	0	0	1	0	0	0	11805	884	31	1	302	1	PGR	11	100912815	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	30581138	100912815	34093701	28	38134											
OR10G8	219869	broad.mit.edu	37	chr11	123901018	123901018	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcctgcggatccgcacctCagaggggaagcacagagcct	12	14	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:123901018C>T	ENST00000431524.1	+	1	722	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	230						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		ATCCGCACCTCAGAGGGGAAG	0.537																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(688-690)tCa>tTa		olfactory receptor, family 10, subfamily G, member 8							165	142	150					11																	123901018		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901018C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.689C>T	11.37:g.123901018C>T	ENSP00000389072:p.Ser230Leu						p.S230L	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	722	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	230					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.689C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255898	0.22965	.	.	ENSG00000234560	ENST00000431524	T	0.00084	8.75	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.176627	0.26397	N	0.024615	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	P	0.43024	0.798	P	0.48921	0.595	T	0.49031	-0.8981	10	0.48119	T	0.1	.	9.1789	0.37129	0.3515:0.6484:0.0:0.0	.	230	Q8NGN5	O10G8_HUMAN	L	230	ENSP00000389072:S230L	ENSP00000389072:S230L	S	+	2	0	OR10G8	123406228	0.002000	0.14202	0.995000	0.50966	0.153000	0.21895	1.036000	0.30228	1.611000	0.50210	0.557000	0.71058	TCA		0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		12	83	0	0	0	1	0	12	83					T	123901018	C	T	123901018	3	4	458	1	0	0	0	0	1	0	0	0	10903	838	29	2	691	2	OR10G8	11	123901018	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	22988203	123901018	11105498	29	38135											
ARID2	196528	broad.mit.edu	37	chr12	46245237	46245238	+	Frame_Shift_Ins	INS	-	-	T													ccaagccgcaggttttggagINStgcaggggcaaactccagct							TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr12:46245237_46245238insT	ENST00000334344.6	+	15	3503_3504	c.3331_3332insT	c.(3331-3333)gtgfs	p.V1111fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.V962fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.V721fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1111	Gln-rich.				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)		AGGTTTTGGAGTGCAGGGGCAA	0.545			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				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						c.(3331-3333)gcafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245237_46245238insT		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.3332dupT	12.37:g.46245238_46245238dupT	ENSP00000335044:p.Val1111fs					ARID2_ENST00000444670.1_Frame_Shift_Ins_p.A721fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.A962fs|ARID2_ENST00000479608.1_3'UTR	p.A1111fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3503_3504	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1111			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.3331_3332insT	CCDS31783.1																																																																																				0.545	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		16	49						16	49	---	---	---	---	T	46245238	-	T	46245237	7	5	458	1	0	1	1	0	0	0	0	0	915	1029	36	0	3389	0	ARID2	12	46245237	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08		46245237	87606658	30	38136											
SOHLH2	54937	broad.mit.edu	37	chr13	36748670	36748670	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtttgttgtttcttaCaaaacctcatgttgctctga	9	7	3	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:36748670C>G	ENST00000379881.3	-	8	912	c.824G>C	c.(823-825)tGt>tCt	p.C275S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	275					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTGTTTCTTACAAAACCTCAT	0.383																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(823-825)tGt>tCt		spermatogenesis and oogenesis specific basic helix-loop-helix 2							207	202	204					13																	36748670		2203	4300	6503	SO:0001583	missense	54937							g.chr13:36748670C>G	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.824G>C	13.37:g.36748670C>G	ENSP00000369210:p.Cys275Ser					SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S	p.C275S	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	8	912	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.824G>C	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974368	0.18736	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.33438	1.41;1.41;1.41	5.41	1.53	0.23141	Helix-loop-helix DNA-binding (1);	0.291198	0.30419	N	0.009663	T	0.25044	0.0608	L	0.39633	1.23	0.24389	N	0.994751	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.005	T	0.15521	-1.0434	10	0.25751	T	0.34	-2.8382	15.1849	0.72993	0.0:0.4109:0.5891:0.0	.	352;275	B4DX90;Q9NX45	.;SOLH2_HUMAN	S	275;352;352	ENSP00000369210:C275S;ENSP00000451542:C352S;ENSP00000421868:C352S	ENSP00000421868:C352S	C	-	2	0	CCDC169-SOHLH2;SOHLH2	35646670	1.000000	0.71417	0.979000	0.43373	0.574000	0.36063	0.669000	0.25142	-0.024000	0.13941	-0.172000	0.13284	TGT		0.383	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		11	61	0	0	0	1	0	11	61					G	36748670	C	G	36748670	3	3	458	1	0	0	0	0	1	0	0	0	14924	478	17	4	469	4	SOHLH2	13	36748670	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		36748670	78421208	31	38137											
SLC15A1	6564	broad.mit.edu	37	chr13	99337171	99337171	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagaatgtactcggcccacTttgaagaaatcagagttgga	10	7	1	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:99337171T>C	ENST00000376503.5	-	23	1991		c.e23-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTCGGCCCACTTTGAAGAAAT	0.428																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e23-2		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						38	35	36					13																	99337171		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99337171T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1936-2A>G	13.37:g.99337171T>C								NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			23	1991	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							Q5VW82	Splice_Site	SNP	ENST00000376503.5	37		CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806592	0.31961	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.129	0.65240	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98135172	1.000000	0.71417	0.903000	0.35520	0.045000	0.14185	7.214000	0.77958	1.987000	0.57996	0.533000	0.62120	.		0.428	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	8	15	0	0	0	1	0	8	15					C	99337171	T	C	99337171	5	2	458	1	0	0	0	0	0	0	1	0	14398	1623	56	3	196	3	SLC15A1	13	99337171	Splice_Site	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	62588501	99337171	15832707	32	38138											
MGA	23269	broad.mit.edu	37	chr15	42019568	42019568	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctcactggaattaaAtctccacggtcatatactcc	5	12	3	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:42019568A>G	ENST00000570161.1	+	9	3621	c.3621A>G	c.(3619-3621)aaA>aaG	p.K1207K	MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000219905.7_Silent_p.K1207K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	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)			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)	CTGGAATTAAATCTCCACGGT	0.413																																						ENST00000219905.7																			0				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						c.(3619-3621)aaA>aaG		MGA, MAX dimerization protein							162	155	157					15																	42019568		1864	4099	5963	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42019568A>G	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.3621A>G	15.37:g.42019568A>G						MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K	p.K1207K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		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)	10	3802	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1207					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.3621A>G	CCDS55959.1																																																																																				0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		23	99	0	0	0	1	0	23	99					G	42019568	A	G	42019568	2	3	458	1	0	0	0	0	0	0	0	1	9540	98	4	3		3	MGA	15	42019568	Silent	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		42019568	60511824	33	38139											
TTBK2	146057	broad.mit.edu	37	chr15	43045134	43045138	+	Frame_Shift_Del	DEL	AAATT	AAATT	-													gtttccccagggagattttcAaattctctcacaaccagtct					rs546749426		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:43045134_43045138delAAATT	ENST00000267890.6	-	14	2414_2418	c.2306_2310delAATTT	c.(2305-2310)gaatttfs	p.EF769fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	769					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAGATTTTCAAATTCTCTCACAAC	0.39																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2305-2310)gfs		tau tubulin kinase 2																																				SO:0001589	frameshift_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43045134_43045138delAAATT	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2306_2310delAATTT	15.37:g.43045134_43045138delAAATT	ENSP00000267890:p.Glu769fs						p.EF769fs	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2414_2418	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	769					O94932|Q6ZN52|Q8IVV1	Frame_Shift_Del	DEL	ENST00000267890.6	37	c.2306_2310delAATTT	CCDS42029.1																																																																																				0.39	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		20	180						20	180	---	---	---	---	-	43045138	AAATT	-	43045134	7	5	458	1	0	1	0	1	0	0	0	0	16674	127	5	0	1432	0	TTBK2	15	43045134	Frame_Shift_Del	DEL	AAATT	TCGA-S9-A89V-01A-11D-A36O-08	1025566	43045134	59486258	34	38140											
MEX3B	84206	broad.mit.edu	37	chr15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-													gtctctccccctccgctgctGccgccgccgccgccgccgct							TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:82337987_82337989delGCC	ENST00000329713.4	-	1	493_495	c.58_60delGGC	c.(58-60)ggcdel	p.G20del	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_In_Frame_Del_p.G20del	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					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						CTccgctgctgccgccgccgccg	0.754																																						ENST00000558133.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(58-60)del		mex-3 RNA binding family member B				21,1671		5,11,830						0.1	0			5	107,3841		10,87,1877	no	coding	MEX3B	NM_032246.3		15,98,2707	A1A1,A1R,RR		2.7102,1.2411,2.2695				128,5512				SO:0001651	inframe_deletion	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82337987_82337989delGCC	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.58_60delGGC	15.37:g.82337996_82337998delGCC	ENSP00000329918:p.Gly20del					MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del	p.G20del			Q6ZN04	MEX3B_HUMAN			1	471_473	-			20					Q4G0W1|Q8IVG2|Q9H0J0	In_Frame_Del	DEL	ENST00000329713.4	37	c.58_60delGGC	CCDS10319.1																																																																																				0.754	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		3	6						3	6	---	---	---	---	-	82337989	GCC	-	82337987	7	5	458	1	0	1	0	1	0	0	0	0	9510	1306	46	0	1657	0	MEX3B	15	82337987	In_Frame_Del	DEL	GCC	TCGA-S9-A89V-01A-11D-A36O-08	39292853	82337987	20193405	35	38141											
PKD1L2	114780	broad.mit.edu	37	chr16	81183425	81183425	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctgctgcgagcgcaGcggctgaagatcgaatacca	14	10	0	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr16:81183425G>A	ENST00000525539.1	-	0	4622				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCGAGCGCAGCGGCTGAAGA	0.607																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							41	44	43					16																	81183425		1963	4138	6101			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183425G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183425G>A						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4622	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.607	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			8	30	0	0	0	1	0	8	30					A	81183425	G	A	81183425	1	1	458	0	1	0	0	0	0	0	0	0	11965	958	34	2		2	PKD1L2	16	81183425	RNA	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		81183425	9171328	36	38142											
C17orf68	80169	broad.mit.edu	37	chr17	8136303	8136303	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccactttggtcccgaagTtgcagacaacctttatgaga	9	10	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:8136303T>C	ENST00000315684.8	-	11	1873	c.1866A>G	c.(1864-1866)caA>caG	p.Q622Q		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	622					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						GGTCCCGAAGTTGCAGACAAC	0.488																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1864-1866)caA>caG		CTS telomere maintenance complex component 1							151	156	154					17																	8136303		1984	4170	6154	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8136303T>C	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.1866A>G	17.37:g.8136303T>C							p.Q622Q	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			11	1873	-			622					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1866A>G	CCDS42259.1																																																																																				0.488	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		16	121	0	0	0	1	0	16	121					C	8136303	T	C	8136303	2	2	458	1	0	0	0	0	0	0	0	1	1876	1722	60	3		3	C17orf68	17	8136303	Silent	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08		8136303	73058907	37	38143											
MYH1	4619	broad.mit.edu	37	chr17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgggagagatcagagcGctgcttctctgctttggccc	12	14	2	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:10404747G>A	ENST00000226207.5	-	27	3512	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140					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						AGATCAGAGCGCTGCTTCTCT	0.587																																						ENST00000226207.5																			0				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						c.(3418-3420)Cgc>Tgc		myosin, heavy chain 1, skeletal muscle, adult							50	56	54					17																	10404747		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404747G>A		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.3418C>T	17.37:g.10404747G>A	ENSP00000226207:p.Arg1140Cys					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1140C	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3512	-			1140					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3418C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195646	0.78902	.	.	ENSG00000109061	ENST00000226207	D	0.82893	-1.66	5.3	4.26	0.50523	Myosin tail (1);	0.000000	0.41294	U	0.000907	D	0.94072	0.8100	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95640	0.8697	10	0.87932	D	0	.	15.0435	0.71811	0.0:0.0:0.8574:0.1426	.	1140	P12882	MYH1_HUMAN	C	1140	ENSP00000226207:R1140C	ENSP00000226207:R1140C	R	-	1	0	MYH1	10345472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.714000	0.68422	2.641000	0.89580	0.650000	0.86243	CGC		0.587	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		15	72	0	0	0	1	0	15	72					A	10404747	G	A	10404747	3	1	458	1	0	0	0	0	1	0	0	0	10029	1087	38	1	2457	1	MYH1	17	10404747	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	2268444	10404747	70790463	38	38144											
MAPK7	5598	broad.mit.edu	37	chr17	19284565	19284565	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgccaccctttcctggCcaagtaccatgatcctgatg	7	16	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:19284565C>G	ENST00000308406.5	+	4	1429	c.1043C>G	c.(1042-1044)gCc>gGc	p.A348G	MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	348	Necessary for oligomerization. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|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)|regulation of angiogenesis (GO:0045765)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTTTCCTGGCCAAGTACCAT	0.612																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(1042-1044)gCc>gGc		mitogen-activated protein kinase 7							52	49	50					17																	19284565		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284565C>G	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1043C>G	17.37:g.19284565C>G	ENSP00000311005:p.Ala348Gly					MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000571657.1_Intron	p.A348G	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1429	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		348			Necessary for oligomerization (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.1043C>G	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515370	0.64634	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.04	4.06	0.47325	Protein kinase-like domain (1);	0.181068	0.48286	D	0.000187	T	0.47619	0.1455	M	0.82517	2.595	0.44694	D	0.997685	B	0.16166	0.016	B	0.09377	0.004	T	0.51926	-0.8643	10	0.72032	D	0.01	-17.6171	13.3003	0.60321	0.0:0.84:0.16:0.0	.	348	Q13164	MK07_HUMAN	G	348;209;348;348	ENSP00000311005:A348G;ENSP00000299612:A209G;ENSP00000378968:A348G;ENSP00000378966:A348G	ENSP00000299612:A209G	A	+	2	0	MAPK7	19225158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.491000	0.53252	1.100000	0.41517	0.561000	0.74099	GCC		0.612	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		5	54	0	0	0	1	0	5	54					G	19284565	C	G	19284565	3	3	458	1	0	0	0	0	1	0	0	0	9282	739	26	4	1053	4	MAPK7	17	19284565	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	8879818	19284565	61910645	39	38145											
NF1	4763	broad.mit.edu	37	chr17	29527526	29527527	+	Frame_Shift_Ins	INS	-	-	A													gtgctgcaattgcctgtgtcINSaaactgtgtaaagcaagtac							TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29527526_29527527insA	ENST00000358273.4	+	9	1358_1359	c.975_976insA	c.(976-978)aaafs	p.K326fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.K326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.K326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	326					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.?(6)	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)		TTGCCTGTGTCAAACTGTGTAA	0.406			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	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						c.(973-978)gtaactfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527526_29527527insA		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.978dupA	17.37:g.29527529_29527529dupA	ENSP00000351015:p.Lys326fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Ins_p.T326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.T326fs	p.T326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	9	1358_1359	+		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)	326					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.975_976insA	CCDS42292.1																																																																																				0.406	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	72						18	72	---	---	---	---	A	29527527	-	A	29527526	7	5	458	1	0	1	1	0	0	0	0	0	10356	813	29	0	1009	0	NF1	17	29527526	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08	10242961	29527526	51667684	40	38146											
NF1	4763	broad.mit.edu	37	chr17	29665041	29665041	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggatcttttaattgcAgatttgcattccaatataat	6	6	2	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29665041A>T	ENST00000358273.4	+	45	7087		c.e45-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000444181.2_Nonsense_Mutation_p.R28*|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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.?(3)	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)		TTTTAATTGCAGATTTGCATT	0.318			"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)																												ENST00000444181.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(82-84)Aga>Tga		neurofibromin 1							117	117	117					17																	29665041		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665041A>T		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.6705-1A>T	17.37:g.29665041A>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000417592.2_Intron|NF1_ENST00000358273.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	p.R28*			P21359	NF1_HUMAN		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)	2	86	+		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)	2235					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.82A>T	CCDS42292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.49|17.49	3.403301|3.403301	0.62288|0.62288	.|.	.|.	ENSG00000196712|ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735|ENST00000444181	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	16.065|16.065	0.80865|0.80865	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|28	.|.	.|ENSP00000396481:R28X	.|R	+|+	.|1	.|2	NF1|NF1	26689167|26689167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	8.639000|8.639000	0.91023|0.91023	2.257000|2.257000	0.74773|0.74773	0.460000|0.460000	0.39030|0.39030	.|AGA		0.318	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	30	67	0	0	0	1	0	30	67					T	29665041	A	T	29665041	5	4	458	1	0	0	0	0	0	0	1	0	10356	202	7	5	6942	5	NF1	17	29665041	Splice_Site	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	137515	29665041	51530169	41	38147											
KRT25	147183	broad.mit.edu	37	chr17	38905574	38905574	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaacccccagacttacaGgctctgtgaaaacatcgcaa	7	12	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:38905574G>T	ENST00000312150.4	-	7	1239	c.1179C>A	c.(1177-1179)gcC>gcA	p.A393A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAGACTTACAGGCTCTGTGAA	0.378																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1177-1179)gcC>gcA		keratin 25							143	140	141					17																	38905574		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38905574G>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1179C>A	17.37:g.38905574G>T							p.A393A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			7	1239	-		Breast(137;0.00526)	393			Tail.			Silent	SNP	ENST00000312150.4	37	c.1179C>A	CCDS11373.1																																																																																				0.378	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		11	105	1	0	0.00010058	1	0.000107399	11	105					T	38905574	G	T	38905574	2	4	458	1	0	0	0	0	0	0	0	1	8462	987	35	4		4	KRT25	17	38905574	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9240533	38905574	42289636	42	38148											
RNF125	54941	broad.mit.edu	37	chr18	29645962	29645962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtcacactttgttttatgAtgatttcatagtaagtatat	6	4	2	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:29645962A>C	ENST00000217740.3	+	5	1094	c.602A>C	c.(601-603)gAt>gCt	p.D201A	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	201					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						TTGTTTTATGATGATTTCATA	0.338																																						ENST00000217740.3																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(601-603)gAt>gCt		ring finger protein 125, E3 ubiquitin protein ligase							136	133	134					18																	29645962		2203	4300	6503	SO:0001583	missense	54941				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding	g.chr18:29645962A>C	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.602A>C	18.37:g.29645962A>C	ENSP00000217740:p.Asp201Ala					RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	p.D201A	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN			5	1094	+			201					Q9NX39	Missense_Mutation	SNP	ENST00000217740.3	37	c.602A>C	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279971	0.59758	.	.	ENSG00000101695	ENST00000217740	D	0.85258	-1.96	5.83	5.83	0.93111	.	0.106809	0.41823	D	0.000809	D	0.85133	0.5627	M	0.69358	2.11	0.39042	D	0.960153	P	0.46784	0.884	B	0.43990	0.438	D	0.87687	0.2551	10	0.66056	D	0.02	-14.135	12.584	0.56406	1.0:0.0:0.0:0.0	.	201	Q96EQ8	RN125_HUMAN	A	201	ENSP00000217740:D201A	ENSP00000217740:D201A	D	+	2	0	RNF125	27899960	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	3.063000	0.49978	2.223000	0.72356	0.519000	0.50382	GAT		0.338	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	NM_017831		11	70	0	0	0	1	0	11	70					C	29645962	A	C	29645962	3	2	458	1	0	0	0	0	1	0	0	0	13434	333	12	5	620	5	RNF125	18	29645962	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		29645962	48431286	43	38149											
SERPINB7	8710	broad.mit.edu	37	chr18	61449741	61449741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccctggtccgcttgggCgctcaagatgactccctctc	11	16	2	2	rs560338179	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:61449741C>T	ENST00000398019.2	+	2	460	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G|SERPINB7_ENST00000336429.2_Silent_p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	45					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCCGCTTGGGCGCTCAAGATG	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		16748	0.003		0.0	False		,,,				2504	0.0					ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(133-135)ggC>ggT		serpin peptidase inhibitor, clade B (ovalbumin), member 7							108	92	97					18																	61449741		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449741C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.135C>T	18.37:g.61449741C>T						SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000336429.2_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G	p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			2	460	+		Esophageal squamous(42;0.129)	45					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.135C>T	CCDS11988.1																																																																																				0.478	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		21	56	0	0	0	1	0	21	56					T	61449741	C	T	61449741	2	4	458	1	0	0	0	0	0	0	0	1	14106	755	27	1		1	SERPINB7	18	61449741	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	31803779	61449741	16627507	44	38150											
MCOLN1	57192	broad.mit.edu	37	chr19	7593548	7593548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccctgtccttcctcCtctgcgcccgctcactcctt	5	22	2	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:7593548C>T	ENST00000264079.6	+	8	1068	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	315					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTTCCTCCTCTGCGCCCG	0.632																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(943-945)Ctc>Ttc		mucolipin 1							165	100	122					19																	7593548		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7593548C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.943C>T	19.37:g.7593548C>T	ENSP00000264079:p.Leu315Phe						p.L315F	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			8	1068	+			315					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.943C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234154	0.58886	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.81247	-1.47	5.32	4.29	0.51040	.	0.070791	0.64402	D	0.000020	D	0.89403	0.6705	M	0.87682	2.9	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.70016	0.967;0.947	D	0.89625	0.3851	10	0.49607	T	0.09	.	11.5425	0.50675	0.0:0.9131:0.0:0.0869	.	280;315	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	F	315;280	ENSP00000264079:L315F	ENSP00000264079:L315F	L	+	1	0	MCOLN1	7499548	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	2.476000	0.45171	1.249000	0.43950	0.563000	0.77884	CTC		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		4	41	0	0	0	1	0	4	41					T	7593548	C	T	7593548	3	4	458	1	0	0	0	0	1	0	0	0	9395	681	24	2	973	2	MCOLN1	19	7593548	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		7593548	51535435	45	38151											
OR1M1	125963	broad.mit.edu	37	chr19	9204135	9204135	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccctggttgatttctGtctggccaccaacaccatcc	7	16	2	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9204135G>C	ENST00000429566.3	+	1	281	c.215G>C	c.(214-216)tGt>tCt	p.C72S		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	72						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)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTTGATTTCTGTCTGGCCACC	0.547																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(214-216)tGt>tCt		olfactory receptor, family 1, subfamily M, member 1							107	80	89					19																	9204135		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204135G>C		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.215G>C	19.37:g.9204135G>C	ENSP00000401966:p.Cys72Ser						p.C72S	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	281	+			72					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.215G>C	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	7.602	0.672957	0.14776	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.79247	-1.25	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.73194	0.3556	M	0.71871	2.18	0.09310	N	1	B	0.32245	0.361	B	0.30401	0.115	T	0.68044	-0.5513	10	0.51188	T	0.08	.	9.6556	0.39923	0.0:0.0:0.7914:0.2085	.	72	Q8NGA1	OR1M1_HUMAN	S	75;72	ENSP00000401966:C72S	ENSP00000303195:C75S	C	+	2	0	OR1M1	9065135	0.013000	0.17824	0.005000	0.12908	0.520000	0.34377	1.922000	0.40045	1.949000	0.56562	0.400000	0.26472	TGT		0.547	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			13	57	0	0	0	1	0	13	57					C	9204135	G	C	9204135	3	2	458	1	0	0	0	0	1	0	0	0	10968	1377	48	4	217	4	OR1M1	19	9204135	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	1610587	9204135	49924848	46	38152											
ZNF699	374879	broad.mit.edu	37	chr19	9413161	9413161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtaaagtccacagccacaTcctcaaagactactgagtcc	8	13	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9413161T>A	ENST00000591998.1	-	3	296	c.68A>T	c.(67-69)gAt>gTt	p.D23V	ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR			Q32M78	ZN699_HUMAN	zinc finger protein 699	23	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)			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						CACAGCCACATCCTCAAAGAC	0.463																																						ENST00000591998.1																			0				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						c.(67-69)gAt>gTt		zinc finger protein 699							97	97	97					19																	9413161		2203	4300	6503	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9413161T>A	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.68A>T	19.37:g.9413161T>A	ENSP00000467723:p.Asp23Val					ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR	p.D23V			Q32M78	ZN699_HUMAN			3	296	-			23			KRAB.		Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.68A>T	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520267	0.44866	.	.	ENSG00000196110	ENST00000308650	T	0.12039	2.72	3.62	3.62	0.41486	Krueppel-associated box (4);	.	.	.	.	T	0.51415	0.1673	H	0.98866	4.355	0.44652	D	0.997631	D	0.89917	1.0	D	0.91635	0.999	T	0.65245	-0.6215	9	0.87932	D	0	.	8.9049	0.35517	0.0:0.0:0.0:1.0	.	23	Q32M78	ZN699_HUMAN	V	23	ENSP00000311596:D23V	ENSP00000311596:D23V	D	-	2	0	ZNF699	9274161	0.878000	0.30173	1.000000	0.80357	0.529000	0.34654	1.683000	0.37638	1.882000	0.54519	0.448000	0.29417	GAT		0.463	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		6	66	0	0	0	1	0	6	66					A	9413161	T	A	9413161	3	1	458	1	0	0	0	0	1	0	0	0	18098	1435	50	5	1876	5	ZNF699	19	9413161	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	209026	9413161	49715822	47	38153											
UPF1	5976	broad.mit.edu	37	chr19	18968242	18968242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggtgctgggcatccgGcccatccgcctgcaggtcca	14	15	0	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:18968242G>A	ENST00000599848.1	+	15	2324	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	UPF1_ENST00000262803.5_Silent_p.R694R			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	705					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCATCCGGCCCATCCGCC	0.647																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2080-2082)cgG>cgA		UPF1 regulator of nonsense transcripts homolog (yeast)							36	37	36					19																	18968242		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968242G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2115G>A	19.37:g.18968242G>A						UPF1_ENST00000599848.1_Silent_p.R705R	p.R694R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			15	2354	+			705					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2082G>A																																																																																					0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		13	29	0	0	0	1	0	13	29					A	18968242	G	A	18968242	2	1	458	1	0	0	0	0	0	0	0	1	17000	1190	42	2		2	UPF1	19	18968242	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9555081	18968242	40160741	48	38154											
ZNF28	7576	broad.mit.edu	37	chr19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttccatgtgtgatttgCgactgaaaactttctcacat	7	9	2	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:53303413C>T	ENST00000457749.2	-	4	1804	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_ENST00000438150.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	562					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)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1525-1527)cGc>cAc		zinc finger protein 28							106	102	103					19																	53303413		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303413C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1685G>A	19.37:g.53303413C>T	ENSP00000397693:p.Arg562His					ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H	p.R509H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2419	-			562					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1526G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.397880	0.01175	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.61	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	L	0.28054	0.825	0.09310	N	1	B	0.23185	0.081	B	0.09377	0.004	T	0.44329	-0.9335	9	0.10111	T	0.7	.	1.3099	0.02095	0.1329:0.3315:0.2293:0.3063	.	562	P17035	ZNF28_HUMAN	H	509;562;509;509;509	ENSP00000412143:R509H;ENSP00000397693:R562H;ENSP00000353410:R509H;ENSP00000444965:R509H;ENSP00000375661:R509H	ENSP00000353410:R509H	R	-	2	0	ZNF28	57995225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.084000	0.00082	-2.531000	0.00491	-0.490000	0.04691	CGC		0.413	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		4	127	0	0	0	1	0	4	127					T	53303413	C	T	53303413	3	4	458	1	0	0	0	0	1	0	0	0	17810	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	34335171	53303413	5825570	49	38155											
KIR2DL1	3811	broad.mit.edu	37	chr19	55281318	55281318	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatgtcgctcttggtcGtcagcatggcgtgtgttggt	14	10	2	0	rs375195215		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:55281318G>A	ENST00000538269.1	+	1	61				KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.V6I|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCTCTTGGTCGTCAGCATGGC	0.607											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(16-18)Gtc>Atc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							118	102	107					19																	55281318		2157	4193	6350	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55281318G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+45283G>A	19.37:g.55281318G>A			OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1006	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I	p.V6I	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	1	56	+			6					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.16G>A		.	.	.	.	.	.	.	.	.	.	G	3.220	-0.159807	0.06502	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00475	7.18;7.17	0.514	-1.03	0.10102	.	.	.	.	.	T	0.00271	0.0008	N	0.25201	0.72	0.19300	N	0.999974	B;B	0.15473	0.002;0.013	B;B	0.13407	0.002;0.009	T	0.39502	-0.9611	8	0.62326	D	0.03	.	.	.	.	.	6;6	Q6IST4;Q6H2H3	.;.	I	6	ENSP00000336769:V6I;ENSP00000291633:V6I	ENSP00000291633:V6I	V	+	1	0	KIR2DL1	59973130	0.000000	0.05858	0.020000	0.16555	0.009000	0.06853	-0.324000	0.07986	-0.402000	0.07633	-0.745000	0.03516	GTC		0.607	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		13	55	0	0	0	1	0	13	55					A	55281318	G	A	55281318	1	1	458	0	1	0	0	0	0	0	0	0	8316	1145	40	1		1	KIR2DL1	19	55281318	Intron	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	1977905	55281318	3847665	50	38156											
DHX35	60625	broad.mit.edu	37	chr20	37601286	37601286	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggaagagcacacagAttcctcaggtgagtacatat	12	7	1	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:37601286A>G	ENST00000252011.3	+	3	292	c.259A>G	c.(259-261)Att>Gtt	p.I87V	DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Missense_Mutation_p.I87V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	87	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGCACACAGATTCCTCAGGT	0.333																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(259-261)Att>Gtt		DEAH (Asp-Glu-Ala-His) box polypeptide 35							120	120	120					20																	37601286		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37601286A>G	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.259A>G	20.37:g.37601286A>G	ENSP00000252011:p.Ile87Val					DHX35_ENST00000373325.2_Missense_Mutation_p.I87V|DHX35_ENST00000373323.4_Intron	p.I87V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			3	292	+		Myeloproliferative disorder(115;0.00878)	87			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.259A>G	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	8.446	0.852013	0.17034	.	.	ENSG00000101452	ENST00000373325;ENST00000252011	T;T	0.02916	4.11;4.11	4.82	2.4	0.29515	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.111999	0.64402	N	0.000020	T	0.01835	0.0058	N	0.12663	0.25	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55879	-0.8071	10	0.39692	T	0.17	.	7.1184	0.25429	0.7716:0.1473:0.0812:0.0	.	87	Q9H5Z1	DHX35_HUMAN	V	87	ENSP00000362422:I87V;ENSP00000252011:I87V	ENSP00000252011:I87V	I	+	1	0	DHX35	37034700	1.000000	0.71417	0.995000	0.50966	0.844000	0.47949	6.338000	0.72963	0.228000	0.21019	0.358000	0.22013	ATT		0.333	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		6	42	0	0	0	1	0	6	42					G	37601286	A	G	37601286	3	3	458	1	0	0	0	0	1	0	0	0	4508	333	12	3	269	3	DHX35	20	37601286	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		37601286	25424234	51	38157											
ZFP64	55734	broad.mit.edu	37	chr20	50701500	50701500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtggactctgctgtgcaCgcgcagggcggccgcgctgg	17	13	1	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:50701500C>T	ENST00000361387.2	-	9	1594	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	360					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGTGCACGCGCAGGGCG	0.657																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1534-1536)Gtg>Atg		ZFP64 zinc finger protein							57	56	56					20																	50701500		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701500C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1534G>A	20.37:g.50701500C>T	ENSP00000355179:p.Val512Met					ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	p.V512M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1594	-			360					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.1534G>A	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229689	0.58777	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.18338	2.22;2.22	4.5	4.5	0.54988	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34106	0.0886	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	T	0.03761	-1.1006	9	0.46703	T	0.11	.	17.7644	0.88473	0.0:1.0:0.0:0.0	.	512;293	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	M	293;512	ENSP00000360578:V293M;ENSP00000355179:V512M	ENSP00000355179:V512M	V	-	1	0	ZFP64	50134907	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	4.623000	0.61247	2.487000	0.83934	0.655000	0.94253	GTG		0.657	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		10	52	0	0	0	1	0	10	52					T	50701500	C	T	50701500	3	4	458	1	0	0	0	0	1	0	0	0	17649	536	19	1	407	1	ZFP64	20	50701500	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	13100214	50701500	12324020	52	38158											
GRIK1	2897	broad.mit.edu	37	chr21	31045398	31045398	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttgagtaaaggcttggcatCtttattcccagagggcagct	11	9	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:31045398C>A	ENST00000399907.1	-	4	1042	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399914.1_Missense_Mutation_p.D211Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	211					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGCTTGGCATCTTTATTCCCA	0.403																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(631-633)Gat>Tat		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						125	132	130					21																	31045398		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045398C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.631G>T	21.37:g.31045398C>A	ENSP00000382791:p.Asp211Tyr					GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y	p.D211Y			P39086	GRIK1_HUMAN			4	1152	-			211					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.631G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656671	0.88154	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.506351	0.22188	N	0.063413	T	0.61375	0.2342	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.73380	0.98;0.98;0.963;0.98;0.98;0.966	T	0.64786	-0.6325	10	0.87932	D	0	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	211;211;211;211;211;211	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Y	211;211;211;211;211;155;211;211;211;211	ENSP00000327687:D211Y;ENSP00000373777:D211Y;ENSP00000382797:D211Y;ENSP00000382798:D211Y;ENSP00000446326:D211Y;ENSP00000373776:D211Y;ENSP00000382791:D211Y;ENSP00000382793:D211Y;ENSP00000311646:D211Y	ENSP00000311646:D211Y	D	-	1	0	GRIK1	29967269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.628000	0.83189	2.850000	0.98022	0.650000	0.86243	GAT		0.403	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			19	140	1	0	5.35267e-07	1	6.02175e-07	19	140					A	31045398	C	A	31045398	3	1	458	1	0	0	0	0	1	0	0	0	6773	913	32	4	2341	4	GRIK1	21	31045398	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		31045398	17084497	53	38159											
GCFC1	94104	broad.mit.edu	37	chr21	34123275	34123275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagaagtttcttcatcaTcactggaaaggccttcaagg	9	9	5	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:34123275T>C	ENST00000331923.4	-	10	1865	c.1676A>G	c.(1675-1677)gAt>gGt	p.D559G	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D559G	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	559					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTTCATCATCACTGGAAAG	0.368																																						ENST00000331923.4																			0											c.(1675-1677)gAt>gGt		PAX3 and PAX7 binding protein 1							143	141	142					21																	34123275		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34123275T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1676A>G	21.37:g.34123275T>C	ENSP00000328992:p.Asp559Gly					PAXBP1_ENST00000290178.4_Missense_Mutation_p.D559G	p.D559G	NM_016631.3	NP_057715.2					10	1865	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1676A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578324	0.86645	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.51574	1.08;0.7	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.77365	-0.2615	10	0.72032	D	0.01	-25.9853	15.1974	0.73104	0.0:0.0:0.0:1.0	.	559;559;68	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	G	559	ENSP00000328992:D559G;ENSP00000290178:D559G	ENSP00000290178:D559G	D	-	2	0	GCFC1	33045146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.542000	0.82095	2.082000	0.62665	0.455000	0.32223	GAT		0.368	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		4	109	0	0	0	1	0	4	109					C	34123275	T	C	34123275	3	2	458	1	0	0	0	0	1	0	0	0	6289	1435	50	3	1231	3	GCFC1	21	34123275	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	3077877	34123275	14006620	54	38160											
UMODL1	89766	broad.mit.edu	37	chr21	43547321	43547321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccgtctagcaacgcccggGaccccatcaccttcagcttc	7	20	3	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:43547321G>A	ENST00000408910.2	+	19	3499	c.3499G>A	c.(3499-3501)Gac>Aac	p.D1167N	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.D1223N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N|UMODL1_ENST00000400424.2_Missense_Mutation_p.D1095N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1167	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				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						CAACGCCCGGGACCCCATCAC	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				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						c.(3667-3669)Gac>Aac		uromodulin-like 1							54	55	55					21																	43547321		1943	4142	6085	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547321G>A		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.3499G>A	21.37:g.43547321G>A	ENSP00000386147:p.Asp1167Asn					UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N|UMODL1_ENST00000408910.2_Missense_Mutation_p.D1167N|UMODL1_ENST00000400424.1_Missense_Mutation_p.D1095N	p.D1223N	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			18	4063	+			1167			ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3667G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863070	0.51482	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	3.43	3.43	0.39272	Zona pellucida sperm-binding protein (3);	0.000000	0.45606	D	0.000353	D	0.87030	0.6076	L	0.46670	1.46	0.42244	D	0.991948	D;D	0.89917	1.0;0.985	D;D	0.87578	0.998;0.911	D	0.86304	0.1682	9	.	.	.	-39.7818	14.312	0.66422	0.0:0.0:1.0:0.0	.	1295;1167	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	N	1223;1095;1295;1167;52	ENSP00000383279:D1223N;ENSP00000383276:D1095N;ENSP00000386126:D1295N;ENSP00000386147:D1167N	.	D	+	1	0	UMODL1	42420390	1.000000	0.71417	0.995000	0.50966	0.420000	0.31355	5.472000	0.66768	2.219000	0.72066	0.462000	0.41574	GAC		0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			21	32	0	0	0	1	0	21	32					A	43547321	G	A	43547321	3	1	458	1	0	0	0	0	1	0	0	0	16977	1174	41	2	3953	2	UMODL1	21	43547321	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9424046	43547321	4582574	55	38161											
ITIH5L	347365	broad.mit.edu	37	chrX	54823433	54823433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaaagatggcttcatGggcttcagcatgtggattaa	12	7	3	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:54823433G>T	ENST00000218436.6	-	2	228	c.199C>A	c.(199-201)Cat>Aat	p.H67N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	67	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATGGCTTCATGGGCTTCAGCA	0.458																																						ENST00000218436.6																			0											c.(199-201)Cat>Aat		inter-alpha-trypsin inhibitor heavy chain family, member 6							172	129	143					X																	54823433		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54823433G>T	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.199C>A	X.37:g.54823433G>T	ENSP00000218436:p.His67Asn						p.H67N	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			2	228	-			67			VIT.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.199C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153325	0.57259	.	.	ENSG00000102313	ENST00000218436	T	0.21361	2.01	4.82	2.91	0.33838	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.299670	0.26279	U	0.025292	T	0.13586	0.0329	L	0.36672	1.1	0.25348	N	0.98889	P	0.44380	0.834	B	0.40901	0.343	T	0.10222	-1.0639	10	0.21540	T	0.41	.	5.0451	0.14479	0.1086:0.0:0.4854:0.406	.	67	Q6UXX5	ITH5L_HUMAN	N	67	ENSP00000218436:H67N	ENSP00000218436:H67N	H	-	1	0	ITIH5L	54840158	0.998000	0.40836	0.201000	0.23476	0.891000	0.51852	2.637000	0.46553	0.826000	0.34661	0.506000	0.49869	CAT		0.458	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	40	1	0	2.56e-06	1	2.82947e-06	3	40					T	54823433	G	T	54823433	3	4	458	1	0	0	0	0	1	0	0	0	7908	1348	47	4	3790	4	ITIH5L	23	54823433	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		54823433	100447127	56	38162											
ATRX	546	broad.mit.edu	37	chrX	76920157	76920157	+	Frame_Shift_Del	DEL	T	T	-													catctcctgggttttcttcaTtttgttttccagttcttttt							TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:76920157delT	ENST00000373344.5	-	11	4134	c.3920delA	c.(3919-3921)aatfs	p.N1307fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1307	Interaction with DAXX.				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						GTTTTCTTCATTTTGTTTTCC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3919-3921)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						213	193	200					X																	76920157		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920157delT	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.3920delA	X.37:g.76920157delT	ENSP00000362441:p.Asn1307fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs	p.N1307fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4134	-			1307					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3920delA	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	47						44	47	---	---	---	---	-	76920157	T	-	76920157	7	5	458	1	0	1	0	1	0	0	0	0	1208	1493	52	0	3658	0	ATRX	23	76920157	Frame_Shift_Del	DEL	T	TCGA-S9-A89V-01A-11D-A36O-08	22096724	76920157	78350403	57	38163											
CNGA2	1260	broad.mit.edu	37	chrX	150912517	150912517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagtatgctctgctgtcGgctggaagctgctttggcga	13	10	2	0	rs185584985		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:150912517G>A	ENST00000329903.4	+	6	1575	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	514					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCTGTCGGCTGGAAGCT	0.512													G|||	1	0.000264901	0.0	0.0014	3775	,	,		16706	0.0		0.0	False		,,,				2504	0.0					ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1540-1542)tcG>tcA		cyclic nucleotide gated channel alpha 2							171	141	151					X																	150912517		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912517G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1542G>A	X.37:g.150912517G>A							p.S514S	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1575	+	Acute lymphoblastic leukemia(192;6.56e-05)		514					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.1542G>A	CCDS14701.1																																																																																				0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		14	31	0	0	0	1	0	14	31					A	150912517	G	A	150912517	2	1	458	1	0	0	0	0	0	0	0	1	3597	1103	39	1		1	CNGA2	23	150912517	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	73992360	150912517	4358043	58	38164											
HOOK1	51361	broad.mit.edu	37	chr1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaagcaaatgcagcacGtacacaattagaaacataca	5	8	0	1	rs143143349		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		18313	0.001		0.0	False		,,,				2504	0.0					ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1102-1104)cGt>cAt		hook microtubule-tethering protein 1		G	HIS/ARG	0,4406		0,0,2203	68	72	71		1103	5.9	1	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOOK1	NM_015888.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	368/729	60314160	1,13005	2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314160G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1103G>A	1.37:g.60314160G>A	ENSP00000360252:p.Arg368His					HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	p.R368H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			11	1360	+	all_cancers(7;0.000129)		368			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1103G>A	CCDS612.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.903201	0.92035	0.0	1.16E-4	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.24538	1.85;1.85	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.50180	-0.8858	10	0.66056	D	0.02	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	368	Q9UJC3	HOOK1_HUMAN	H	368;326	ENSP00000360252:R368H;ENSP00000378928:R326H	ENSP00000360252:R368H	R	+	2	0	HOOK1	60086748	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.353000	0.79414	2.805000	0.96524	0.460000	0.39030	CGT		0.308	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		5	62	0	0	0	1	0	5	62					A	60314160	G	A	60314160	3	1	459	1	0	0	0	0	1	0	0	0	7282	1145	40	1	1145	1	HOOK1	1	60314160	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		60314160	188936461	1	38165											
FLG	2312	broad.mit.edu	37	chr1	152275641	152275641	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacatgactggctgtatcGcggtgagaggatccggggtg	17	7	0	2	rs374091552		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:152275641G>A	ENST00000368799.1	-	3	11756	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	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)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis																													ENST00000368799.1																			0				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						c.(11719-11721)cgC>cgT		filaggrin		A		1,4405	2.1+/-5.4	0,1,2202	97	97	97		11721	-4.5	0	1		97	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3907/4062	152275641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275641G>A	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.11721C>T	1.37:g.152275641G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3907R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11756	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3907			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11721C>T	CCDS30860.1																																																																																				0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		4	78	0	0	0	1	0	4	78					A	152275641	G	A	152275641	2	1	459	1	0	0	0	0	0	0	0	1	5922	1074	38	1		1	FLG	1	152275641	Silent	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	91961481	152275641	96974980	2	38166											
SPRR1B	6699	broad.mit.edu	37	chr1	153004933	153004933	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgcatccccaaaaccAaggagccctgccaccccaag	6	18	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:153004933A>G	ENST00000307098.4	+	2	177	c.112A>G	c.(112-114)Aag>Gag	p.K38E	SPRR1B_ENST00000392661.3_Missense_Mutation_p.K38E	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	38	6 X 8 AA approximate tandem 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)			CCCCAAAACCAAGGAGCCCTG	0.642																																						ENST00000307098.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9						c.(112-114)Aag>Gag		small proline-rich protein 1B							143	141	142					1																	153004933		2203	4300	6503	SO:0001583	missense	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004933A>G	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.112A>G	1.37:g.153004933A>G	ENSP00000306461:p.Lys38Glu					SPRR1B_ENST00000392661.3_Missense_Mutation_p.K38E	p.K38E	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	177	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38			6 X 8 AA approximate tandem repeats.		B2R5H7|P22529|P22530|Q5T524	Missense_Mutation	SNP	ENST00000307098.4	37	c.112A>G	CCDS30863.1	.	.	.	.	.	.	.	.	.	.	A	5.846	0.340220	0.11069	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	T;T	0.14266	2.52;2.52	4.86	0.858	0.19030	.	.	.	.	.	T	0.03348	0.0097	.	.	.	0.09310	N	1	B	0.27013	0.166	B	0.28011	0.085	T	0.42032	-0.9475	8	0.56958	D	0.05	-6.4302	5.4822	0.16729	0.4468:0.3876:0.0:0.1656	.	38	P22528	SPR1B_HUMAN	E	38	ENSP00000306461:K38E;ENSP00000376429:K38E	ENSP00000306461:K38E	K	+	1	0	SPRR1B	151271557	0.179000	0.23135	0.380000	0.26093	0.029000	0.11900	0.470000	0.22084	0.205000	0.20568	-0.331000	0.08364	AAG		0.642	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		6	95	0	0	0	1	0	6	95					G	153004933	A	G	153004933	3	3	459	1	0	0	0	0	1	0	0	0	15095	131	5	3	114	3	SPRR1B	1	153004933	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	729292	153004933	96245688	3	38167											
HMCN1	83872	broad.mit.edu	37	chr1	185959534	185959534	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctccacccataattacTtgggccaaagaaacccagct	5	14	0	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:185959534T>C	ENST00000271588.4	+	22	3565	c.3336T>C	c.(3334-3336)acT>acC	p.T1112T	HMCN1_ENST00000367492.2_Silent_p.T1112T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1112	Ig-like C2-type 8.				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						CCATAATTACTTGGGCCAAAG	0.478																																						ENST00000271588.4																			0				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						c.(3334-3336)acT>acC		hemicentin 1							148	135	140					1																	185959534		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959534T>C	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.3336T>C	1.37:g.185959534T>C						HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.T1112T	p.T1112T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3565	+			1112			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3336T>C	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		44	48	0	0	0	1	0	44	48					C	185959534	T	C	185959534	2	2	459	1	0	0	0	0	0	0	0	1	7220	1596	56	3		3	HMCN1	1	185959534	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	32954601	185959534	63291087	4	38168											
HMCN1	83872	broad.mit.edu	37	chr1	186014861	186014861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacagaatgtctctgtcCtcattagccaagctgtggaa	9	9	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:186014861C>T	ENST00000271588.4	+	41	6575	c.6346C>T	c.(6346-6348)Ctc>Ttc	p.L2116F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2116F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2116	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						TGTCTCTGTCCTCATTAGCCA	0.433																																						ENST00000271588.4																			0				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						c.(6346-6348)Ctc>Ttc		hemicentin 1							152	133	139					1																	186014861		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014861C>T	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.6346C>T	1.37:g.186014861C>T	ENSP00000271588:p.Leu2116Phe					HMCN1_ENST00000367492.2_Missense_Mutation_p.L2116F	p.L2116F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			41	6575	+			2116			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6346C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062573	0.36373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67698	-0.28;-0.28	5.35	0.832	0.18867	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.297385	0.36555	N	0.002528	T	0.67543	0.2904	L	0.59436	1.845	0.42803	D	0.993937	D	0.71674	0.998	D	0.63033	0.91	T	0.63382	-0.6650	10	0.23891	T	0.37	.	2.8939	0.05685	0.1163:0.4521:0.2282:0.2034	.	2116	Q96RW7	HMCN1_HUMAN	F	2116	ENSP00000271588:L2116F;ENSP00000356462:L2116F	ENSP00000271588:L2116F	L	+	1	0	HMCN1	184281484	0.999000	0.42202	0.994000	0.49952	0.978000	0.69477	1.739000	0.38217	0.257000	0.21650	-0.885000	0.02943	CTC		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	53	0	0	0	1	0	21	53					T	186014861	C	T	186014861	3	4	459	1	0	0	0	0	1	0	0	0	7220	681	24	2	6508	2	HMCN1	1	186014861	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	55327	186014861	63235760	5	38169											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	180	0	0	0	1	0	5	180					T	223176649	C	T	223176649	3	4	459	1	0	0	0	0	1	0	0	0	4539	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	37161788	223176649	26073972	6	38170											
OR2G2	81470	broad.mit.edu	37	chr1	247752061	247752061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtctgccgtcctctcCattacactgtcttaatgcat	7	13	3	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752061C>A	ENST00000320065.1	+	1	400	c.400C>A	c.(400-402)Cat>Aat	p.H134N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCGTCCTCTCCATTACACTGT	0.547																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(400-402)Cat>Aat		olfactory receptor, family 2, subfamily G, member 2							286	236	253					1																	247752061		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752061C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.400C>A	1.37:g.247752061C>A	ENSP00000326349:p.His134Asn					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.H134N	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	400	+	all_cancers(71;3.24e-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)		134					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.400C>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530829	0.27387	.	.	ENSG00000177489	ENST00000320065	T	0.01323	5.01	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	1.061520	0.07542	U	0.914001	T	0.05777	0.0151	M	0.90870	3.155	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.33240	-0.9876	10	0.72032	D	0.01	.	14.3294	0.66545	0.0:1.0:0.0:0.0	.	134	Q8NGZ5	OR2G2_HUMAN	N	134	ENSP00000326349:H134N	ENSP00000326349:H134N	H	+	1	0	OR2G2	245818684	0.236000	0.23804	0.069000	0.20011	0.627000	0.37826	2.393000	0.44442	2.206000	0.71126	0.591000	0.81541	CAT		0.547	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			46	185	1	0	8.48111e-28	1	9.33995e-28	46	185					A	247752061	C	A	247752061	3	1	459	1	0	0	0	0	1	0	0	0	10998	594	21	4	402	4	OR2G2	1	247752061	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	24575412	247752061	1498560	7	38171											
OR2G2	81470	broad.mit.edu	37	chr1	247752350	247752350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgcccacgcagtgttgaGgattaagtcagctaccagga	11	10	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752350G>T	ENST00000320065.1	+	1	689	c.689G>T	c.(688-690)aGg>aTg	p.R230M	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAGTGTTGAGGATTAAGTCA	0.473																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(688-690)aGg>aTg		olfactory receptor, family 2, subfamily G, member 2							153	144	147					1																	247752350		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752350G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.689G>T	1.37:g.247752350G>T	ENSP00000326349:p.Arg230Met					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R230M	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	689	+	all_cancers(71;3.24e-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)		230					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.689G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318499	0.23994	.	.	ENSG00000177489	ENST00000320065	T	0.00265	8.39	4.29	-3.18	0.05186	GPCR, rhodopsin-like superfamily (1);	0.569375	0.14088	N	0.342215	T	0.00524	0.0017	M	0.91561	3.22	0.09310	N	1	D	0.67145	0.996	D	0.64687	0.928	T	0.12915	-1.0529	10	0.87932	D	0	.	10.3209	0.43764	0.5759:0.0:0.4241:0.0	.	230	Q8NGZ5	OR2G2_HUMAN	M	230	ENSP00000326349:R230M	ENSP00000326349:R230M	R	+	2	0	OR2G2	245818973	0.000000	0.05858	0.003000	0.11579	0.078000	0.17371	-1.434000	0.02425	-0.480000	0.06803	0.591000	0.81541	AGG		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			65	44	1	0	4.83814e-26	1	5.26147e-26	65	44					T	247752350	G	T	247752350	3	4	459	1	0	0	0	0	1	0	0	0	10998	1000	35	4	691	4	OR2G2	1	247752350	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	289	247752350	1498271	8	38172											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696859	17696859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagctaagtcctgaaaacAttcatcattcccttcactca	4	13	4	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:17696859A>T	ENST00000399080.2	-	1	2847	c.2824T>A	c.(2824-2826)Tgt>Agt	p.C942S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	942										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)					TCCTGAAAACATTCATCATTC	0.318																																						ENST00000399080.2																			0				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						c.(2824-2826)Tgt>Agt		RAD51 associated protein 2							38	39	39					2																	17696859		1808	4076	5884	SO:0001583	missense	729475							g.chr2:17696859A>T	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.2824T>A	2.37:g.17696859A>T	ENSP00000382030:p.Cys942Ser						p.C942S	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2847	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		942						Missense_Mutation	SNP	ENST00000399080.2	37	c.2824T>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081219	0.55753	.	.	ENSG00000214842	ENST00000399080	T	0.27557	1.66	5.41	4.26	0.50523	.	.	.	.	.	T	0.40815	0.1132	L	0.29908	0.895	0.29437	N	0.859413	D	0.89917	1.0	D	0.74674	0.984	T	0.28299	-1.0048	9	0.87932	D	0	-5.3779	9.2466	0.37529	0.9181:0.0:0.0819:0.0	.	942	Q09MP3	R51A2_HUMAN	S	942	ENSP00000382030:C942S	ENSP00000382030:C942S	C	-	1	0	RAD51AP2	17560340	0.987000	0.35691	1.000000	0.80357	0.682000	0.39822	1.226000	0.32563	1.005000	0.39183	0.533000	0.62120	TGT		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		14	29	0	0	0	1	0	14	29					T	17696859	A	T	17696859	3	4	459	1	0	0	0	0	1	0	0	0	12987	217	8	5	667	5	RAD51AP2	2	17696859	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		17696859	225502514	9	38173											
USP34	9736	broad.mit.edu	37	chr2	61622338	61622338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatatcacagaatgcccCtaatatgttactttcttgag	5	9	3	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:61622338C>T	ENST00000398571.2	-	4	659	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	195					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGAATGCCCCTAATATGTTA	0.224																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(583-585)Ggg>Agg		ubiquitin specific peptidase 34							34	32	33					2																	61622338		1766	4005	5771	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61622338C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.583G>A	2.37:g.61622338C>T	ENSP00000381577:p.Gly195Arg						p.G195R	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		4	659	-			195					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.583G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044463	0.93685	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.14266	2.52	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.55481	1.735	0.80722	D	1	D	0.54047	0.964	P	0.51101	0.659	T	0.00245	-1.1882	10	0.59425	D	0.04	.	19.7723	0.96370	0.0:1.0:0.0:0.0	.	195	Q70CQ2	UBP34_HUMAN	R	43;43;195	ENSP00000381577:G195R	ENSP00000263989:G43R	G	-	1	0	USP34	61475842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.674000	0.91012	0.579000	0.79373	GGG		0.224	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	30	0	0	0	1	0	8	30					T	61622338	C	T	61622338	3	4	459	1	0	0	0	0	1	0	0	0	17062	681	24	2	10365	2	USP34	2	61622338	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	43925479	61622338	181577035	10	38174											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	44	0	0	0	1	0	17	44					T	209113112	C	T	209113112	3	4	459	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	147490774	209113112	34086261	11	38175											
PTH2R	5746	broad.mit.edu	37	chr2	209358134	209358135	+	Frame_Shift_Ins	INS	-	-	CACA													cagtcacaggtggcggccagINScacacgcatggtgcttatct							TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209358134_209358135insCACA	ENST00000272847.2	+	13	1616_1617	c.1403_1404insCACA	c.(1402-1407)agcacafs	p.-469fs	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.S468N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GTGGCGGCCAGCACACGCATGG	0.594																																						ENST00000272847.2																			1	Substitution - Missense(1)	p.S468N(1)	lung(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1402-1404)aacfs		parathyroid hormone 2 receptor																																				SO:0001589	frameshift_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358134_209358135insCACA	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1404_1407dupCACA	2.37:g.209358135_209358138dupCACA	ENSP00000272847:p.Thr469fs					AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.N468fs	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1616_1617	+			468					Q8N429	Frame_Shift_Ins	INS	ENST00000272847.2	37	c.1403_1404insCACA	CCDS2383.1																																																																																				0.594	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		7	18						7	18	---	---	---	---	CACA	209358135	-	CACA	209358134	7	5	459	1	0	1	1	0	0	0	0	0	12760	971	34	0	1453	0	PTH2R	2	209358134	Frame_Shift_Ins	INS	-	TCGA-S9-A89Z-01A-11D-A36O-08	245022	209358134	33841239	12	38176											
C3orf19	51244	broad.mit.edu	37	chr3	14709604	14709604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acataaaggaaaagcgaaagGctatcttagaggcaagactt	10	6	1	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:14709604G>T	ENST00000383794.3	+	9	941	c.868G>T	c.(868-870)Gct>Tct	p.A290S	CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Intron	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	290						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGCGAAAGGCTATCTTAGA	0.343																																						ENST00000383794.3																			0											c.(868-870)Gct>Tct		coiled-coil domain containing 174							90	95	93					3																	14709604		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14709604G>T	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 19"	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.868G>T	3.37:g.14709604G>T	ENSP00000373304:p.Ala290Ser					CCDC174_ENST00000303688.7_Intron|CCDC174_ENST00000476763.1_3'UTR	p.A290S	NM_016474.4	NP_057558.3					9	941	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.868G>T	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676957	0.68042	.	.	ENSG00000154781	ENST00000383794	T	0.49720	0.77	5.76	5.76	0.90799	.	0.052182	0.85682	D	0.000000	T	0.42630	0.1211	N	0.25245	0.725	0.80722	D	1	P	0.50272	0.933	P	0.51355	0.667	T	0.10870	-1.0611	10	0.15066	T	0.55	-15.9321	13.683	0.62499	0.0:0.0:0.8454:0.1546	.	290	Q6PII3	CC019_HUMAN	S	290	ENSP00000373304:A290S	ENSP00000373304:A290S	A	+	1	0	C3orf19	14684608	1.000000	0.71417	0.883000	0.34634	0.940000	0.58332	6.312000	0.72840	2.725000	0.93324	0.460000	0.39030	GCT		0.343	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		27	49	1	0	1.42536e-11	1	1.47626e-11	27	49					T	14709604	G	T	14709604	3	4	459	1	0	0	0	0	1	0	0	0	2212	1203	42	4	902	4	C3orf19	3	14709604	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		14709604	183312826	13	38177											
COLQ	8292	broad.mit.edu	37	chr3	15520493	15520493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaccataccttccttccTggtcggccaagctcccccta	7	18	0	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:15520493T>C	ENST00000383788.5	-	5	509	c.384A>G	c.(382-384)ccA>ccG	p.P128P	COLQ_ENST00000603808.1_Silent_p.P128P|COLQ_ENST00000383781.4_Silent_p.P118P|COLQ_ENST00000383787.2_Intron|COLQ_ENST00000383786.5_Silent_p.P94P|COLQ_ENST00000435459.2_Silent_p.P118P|COLQ_ENST00000383785.2_Silent_p.P128P	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	128	Collagen-like 1.				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						CCTTCCTTCCTGGTCGGCCAA	0.537																																						ENST00000383785.2																			0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						c.(382-384)ccA>ccG		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							128	105	113					3																	15520493		2203	4300	6503	SO:0001819	synonymous_variant	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15520493T>C	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.384A>G	3.37:g.15520493T>C						COLQ_ENST00000383787.2_Intron|COLQ_ENST00000435459.2_Silent_p.P118P|COLQ_ENST00000383788.5_Silent_p.P128P|COLQ_ENST00000383786.5_Silent_p.P94P|COLQ_ENST00000603808.1_Silent_p.P128P|COLQ_ENST00000383781.4_Silent_p.P118P	p.P128P			Q9Y215	COLQ_HUMAN			5	509	-			128			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	c.384A>G	CCDS33709.1																																																																																				0.537	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		4	69	0	0	0	1	0	4	69					C	15520493	T	C	15520493	2	2	459	1	0	0	0	0	0	0	0	1	3713	1567	55	3		3	COLQ	3	15520493	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	810889	15520493	182501937	14	38178											
MORC1	27136	broad.mit.edu	37	chr3	108776215	108776215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtttcaactgtgagcCcactttttcatgcattttga	6	10	3	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:108776215C>T	ENST00000483760.1	-	13	1193	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	MORC1_ENST00000232603.5_Missense_Mutation_p.G384S					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACTGTGAGCCCACTTTTTCA	0.403																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1150-1152)Ggc>Agc		MORC family CW-type zinc finger 1							118	113	115					3																	108776215		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108776215C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1150G>A	3.37:g.108776215C>T	ENSP00000417282:p.Gly384Ser					MORC1_ENST00000483760.1_Missense_Mutation_p.G384S	p.G384S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			13	1232	-			384						Missense_Mutation	SNP	ENST00000483760.1	37	c.1150G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.471946	0.84533	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08102	3.13;3.14	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000241	T	0.28034	0.0691	M	0.69823	2.125	0.42882	D	0.994171	D;P	0.89917	1.0;0.942	D;P	0.91635	0.999;0.684	T	0.00939	-1.1507	10	0.52906	T	0.07	-11.3443	15.4085	0.74900	0.0:1.0:0.0:0.0	.	384;384	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	384	ENSP00000232603:G384S;ENSP00000417282:G384S	ENSP00000232603:G384S	G	-	1	0	MORC1	110258905	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.713000	0.68415	2.470000	0.83445	0.655000	0.94253	GGC		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			46	61	0	0	0	1	0	46	61					T	108776215	C	T	108776215	3	4	459	1	0	0	0	0	1	0	0	0	9701	623	22	2	1868	2	MORC1	3	108776215	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	93255722	108776215	89246215	15	38179											
MYLK	4638	broad.mit.edu	37	chr3	123366171	123366171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgctaatctcctgccGgatattctctttctcttttg	6	11	3	1	rs142010566		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:123366171G>A	ENST00000475616.1	-	24	4518	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	MYLK_ENST00000354792.5_Missense_Mutation_p.R307W|MYLK_ENST00000360772.3_Missense_Mutation_p.R1507W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1438W|MYLK_ENST00000359169.1_Missense_Mutation_p.R1507W|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1507W			Q15746	MYLK_HUMAN	myosin light chain kinase	1507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		ATCTCCTGCCGGATATTCTCT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		22487	0.001		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				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						c.(4519-4521)Cgg>Tgg		myosin light chain kinase							141	123	129					3																	123366171		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123366171G>A	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.4519C>T	3.37:g.123366171G>A	ENSP00000418335:p.Arg1507Trp					MYLK_ENST00000475616.1_Missense_Mutation_p.R1507W|MYLK_ENST00000354792.5_Missense_Mutation_p.R307W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1438W|MYLK_ENST00000360304.3_Missense_Mutation_p.R1507W|MYLK_ENST00000359169.1_Missense_Mutation_p.R1507W	p.R1507W			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	28	4897	-		Lung NSC(201;0.0496)	1507			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4519C>T	CCDS46896.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.85	3.903822	0.72754	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.38	3.5	0.40072	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	0.79661	0.4484	M	0.71581	2.175	0.53005	D	0.999968	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.951;0.993;0.976;0.993;0.981	T	0.80837	-0.1204	9	0.87932	D	0	.	13.6084	0.62061	0.0:0.0:0.5224:0.4776	.	1507;1438;1507;1438;1507	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	W	1507;1507;1507;1438;307;1507	ENSP00000354004:R1507W;ENSP00000353452:R1507W;ENSP00000352088:R1507W;ENSP00000320622:R1438W;ENSP00000346846:R307W;ENSP00000418335:R1507W	ENSP00000320622:R1438W	R	-	1	2	MYLK	124848861	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.209000	0.42806	0.559000	0.29153	0.655000	0.94253	CGG		0.458	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	62	0	0	0	1	0	4	62					A	123366171	G	A	123366171	3	1	459	1	0	0	0	0	1	0	0	0	10056	1115	39	1	1257	1	MYLK	3	123366171	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	14589956	123366171	74656259	16	38180											
UGT2A1	10941	broad.mit.edu	37	chr4	70455139	70455139	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatttttgacaggaaAacaaacaacattgtatgacc	5	8	0	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:70455139A>T	ENST00000503640.1	-	6	1590	c.1535T>A	c.(1534-1536)tTt>tAt	p.F512Y	UGT2A1_ENST00000512704.1_Missense_Mutation_p.F468Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F512Y|UGT2A2_ENST00000457664.2_Missense_Mutation_p.F521Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F678Y|UGT2A1_ENST00000502343.1_5'Flank	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	512					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGACAGGAAAACAAACAACA	0.353																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1534-1536)tTt>tAt		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							63	66	65					4																	70455139		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455139A>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1535T>A	4.37:g.70455139A>T	ENSP00000424478:p.Phe512Tyr					UGT2A2_ENST00000457664.2_Missense_Mutation_p.F521Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F678Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F468Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F512Y	p.F512Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			6	1590	-			512					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1535T>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.233848	0.22626	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.08	3.9	0.45041	.	0.052270	0.85682	D	0.000000	T	0.66723	0.2818	L	0.50333	1.59	.	.	.	P;D;P;D;P	0.89917	0.747;1.0;0.747;0.996;0.747	P;D;P;D;P	0.77004	0.451;0.989;0.451;0.979;0.451	T	0.71344	-0.4621	9	0.33141	T	0.24	.	10.2806	0.43537	0.8165:0.1835:0.0:0.0	.	678;678;468;521;512	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	Y	521;512;468;678;512	ENSP00000387888:F521Y;ENSP00000424478:F512Y;ENSP00000421432:F468Y;ENSP00000425497:F678Y;ENSP00000286604:F512Y	ENSP00000286604:F512Y	F	-	2	0	UGT2A1	70489728	1.000000	0.71417	0.064000	0.19789	0.013000	0.08279	3.121000	0.50438	0.878000	0.35920	0.472000	0.43445	TTT		0.353	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		27	55	0	0	0	1	0	27	55					T	70455139	A	T	70455139	3	4	459	1	0	0	0	0	1	0	0	0	16950	14	1	5	52	5	UGT2A1	4	70455139	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		70455139	120699137	17	38181											
MUC7	4589	broad.mit.edu	37	chr4	71347515	71347515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaccaacttcagctcctGgccaaaataaaatttctcga	4	12	2	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:71347515G>T	ENST00000304887.5	+	3	1244	c.1054G>T	c.(1054-1056)Ggc>Tgc	p.G352C	MUC7_ENST00000413702.1_Missense_Mutation_p.G352C|MUC7_ENST00000456088.1_Missense_Mutation_p.G352C	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	352					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCAGCTCCTGGCCAAAATAA	0.373																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1054-1056)Ggc>Tgc		mucin 7, secreted							89	96	94					4																	71347515		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347515G>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.1054G>T	4.37:g.71347515G>T	ENSP00000302021:p.Gly352Cys					MUC7_ENST00000304887.5_Missense_Mutation_p.G352C|MUC7_ENST00000456088.1_Missense_Mutation_p.G352C	p.G352C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1342	+			352					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.1054G>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	G	6.752	0.507545	0.12883	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59224	0.28;0.28;0.28	2.92	-5.43	0.02632	.	.	.	.	.	T	0.30355	0.0762	N	0.08118	0	0.09310	N	1	D	0.53619	0.961	B	0.43950	0.437	T	0.28713	-1.0035	8	.	.	.	.	5.3468	0.16014	0.3491:0.1837:0.4672:0.0	.	352	Q8TAX7	MUC7_HUMAN	C	352	ENSP00000407422:G352C;ENSP00000400585:G352C;ENSP00000302021:G352C	.	G	+	1	0	MUC7	71382104	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.304000	0.01134	-0.978000	0.03533	-1.079000	0.02226	GGC		0.373	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		25	41	1	0	4.81078e-24	1	5.16713e-24	25	41					T	71347515	G	T	71347515	3	4	459	1	0	0	0	0	1	0	0	0	9981	1348	47	4	1060	4	MUC7	4	71347515	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	892376	71347515	119806761	18	38182											
FAT4	79633	broad.mit.edu	37	chr4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgcattaatcagtggTatgcctacaggtgtgtccct	11	9	1	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					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						TAATCAGTGGTATGCCTACAG	0.577																																						ENST00000394329.3																			0				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						c.(13258-13260)Tat>Cat		FAT atypical cadherin 4							128	124	125					4																	126411235		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411235T>C	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.13258T>C	4.37:g.126411235T>C	ENSP00000377862:p.Tyr4420His					FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	p.Y4420H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13271	+			4420					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13258T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	12.53	1.967016	0.34754	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74526	-0.68;-0.85	5.17	2.75	0.32379	.	0.000000	0.31821	U	0.007003	T	0.49830	0.1580	N	0.12182	0.205	0.46298	D	0.998974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.25813	-1.0121	10	0.13470	T	0.59	.	7.195	0.25847	0.0:0.2462:0.0:0.7538	.	2661;4420;4419	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4420;2661	ENSP00000377862:Y4420H;ENSP00000335169:Y2661H	ENSP00000335169:Y2661H	Y	+	1	0	FAT4	126630685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.802000	0.38853	0.796000	0.33947	0.459000	0.35465	TAT		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		50	99	0	0	0	1	0	50	99					C	126411235	T	C	126411235	3	2	459	1	0	0	0	0	1	0	0	0	5692	1638	57	3	13324	3	FAT4	4	126411235	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	55063720	126411235	64743041	19	38183											
FGA	2243	broad.mit.edu	37	chr4	155505789	155505789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcgtcattcaggctgccGaaacctctcttgtagtcttg	8	14	4	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:155505789G>A	ENST00000302053.3	-	6	2166	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	696	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAGGCTGCCGAAACCTCTCT	0.488																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2086-2088)ttC>ttT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						100	95	97					4																	155505789		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505789G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2088C>T	4.37:g.155505789G>A							p.F696F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2166	-	all_hematologic(180;0.215)	Renal(120;0.0458)	696			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.2088C>T	CCDS3787.1																																																																																				0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		22	53	0	0	0	1	0	22	53					A	155505789	G	A	155505789	2	1	459	1	0	0	0	0	0	0	0	1	5830	1049	37	1		1	FGA	4	155505789	Silent	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	29094554	155505789	35648487	20	38184											
DDX60	55601	broad.mit.edu	37	chr4	169145434	169145434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaatcatcatcaaagTtcccagacagacaaacaaat	5	10	3	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:169145434T>C	ENST00000393743.3	-	35	5075	c.4784A>G	c.(4783-4785)aAc>aGc	p.N1595S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1595					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)		ATCATCAAAGTTCCCAGACAG	0.368																																						ENST00000393743.3																			0				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						c.(4783-4785)aAc>aGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							106	102	103					4																	169145434		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169145434T>C	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.4784A>G	4.37:g.169145434T>C	ENSP00000377344:p.Asn1595Ser						p.N1595S	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	35	5075	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1595					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.4784A>G	CCDS34097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.41|11.41	1.629663|1.629663	0.28978|0.28978	.|.	.|.	ENSG00000137628|ENSG00000137628	ENST00000393743|ENST00000511317	T|.	0.17691|.	2.26|.	5.77|5.77	-0.166|-0.166	0.13351|0.13351	.|.	0.572643|.	0.17091|.	N|.	0.187361|.	T|T	0.58380|0.58380	0.2118|0.2118	M|M	0.80028|0.80028	2.48|2.48	0.09310|0.09310	N|N	1|1	D;D|.	0.59357|.	0.985;0.96|.	P;P|.	0.53649|.	0.731;0.645|.	T|T	0.55068|0.55068	-0.8198|-0.8198	10|5	0.22109|.	T|.	0.4|.	.|.	11.7297|11.7297	0.51730|0.51730	0.4753:0.0:0.0:0.5247|0.4753:0.0:0.0:0.5247	.|.	1595;87|.	Q8IY21;Q9NT91|.	DDX60_HUMAN;.|.	S|A	1595|88	ENSP00000377344:N1595S|.	ENSP00000377344:N1595S|.	N|T	-|-	2|1	0|0	DDX60|DDX60	169382009|169382009	0.004000|0.004000	0.15560|0.15560	0.573000|0.573000	0.28510|0.28510	0.004000|0.004000	0.04260|0.04260	-0.075000|-0.075000	0.11431|0.11431	0.088000|0.088000	0.17205|0.17205	-0.624000|-0.624000	0.04008|0.04008	AAC|ACT		0.368	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		13	29	0	0	0	1	0	13	29					C	169145434	T	C	169145434	3	2	459	1	0	0	0	0	1	0	0	0	4378	1725	60	3	370	3	DDX60	4	169145434	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	13639645	169145434	22008842	21	38185											
CCDC110	256309	broad.mit.edu	37	chr4	186380117	186380117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttttagttgatctaatgCttccatcatttgttgcttct	5	8	3	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:186380117C>T	ENST00000307588.3	-	6	1699	c.1624G>A	c.(1624-1626)Gca>Aca	p.A542T	CCDC110_ENST00000393540.3_Missense_Mutation_p.A505T|CCDC110_ENST00000510617.1_Missense_Mutation_p.A542T|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	542						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGATCTAATGCTTCCATCATT	0.274																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1624-1626)Gca>Aca		coiled-coil domain containing 110							113	106	108					4																	186380117		2203	4298	6501	SO:0001583	missense	256309					nucleus		g.chr4:186380117C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1624G>A	4.37:g.186380117C>T	ENSP00000306776:p.Ala542Thr					CCDC110_ENST00000510617.1_Missense_Mutation_p.A542T|CCDC110_ENST00000393540.3_Missense_Mutation_p.A505T	p.A542T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1699	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	542					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1624G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.517579	0.00975	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.06608	3.28;3.29;3.29	5.85	-3.45	0.04781	.	1.198120	0.05985	N	0.645096	T	0.02267	0.0070	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.47433	-0.9118	10	0.15066	T	0.55	0.0048	5.1749	0.15129	0.2481:0.4377:0.0:0.3143	.	542;505;542	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	505;542;542	ENSP00000377172:A505T;ENSP00000306776:A542T;ENSP00000427246:A542T	ENSP00000306776:A542T	A	-	1	0	CCDC110	186617111	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.335000	0.07873	-0.233000	0.09797	-0.136000	0.14681	GCA		0.274	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		10	31	0	0	0	1	0	10	31					T	186380117	C	T	186380117	3	4	459	1	0	0	0	0	1	0	0	0	2747	797	28	2	885	2	CCDC110	4	186380117	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	17234683	186380117	4774159	22	38186											
TERT	7015	broad.mit.edu	37	chr5	1268645	1268645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggcctcacccgtcccgccGaatccccgcaaacagcttgt	9	18	1	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:1268645G>A	ENST00000310581.5	-	9	2629	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	TERT_ENST00000508104.2_Missense_Mutation_p.S797L|TERT_ENST00000296820.5_Missense_Mutation_p.S797L|TERT_ENST00000334602.6_Missense_Mutation_p.R858W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	858	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				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)	CCGTCCCGCCGAATCCCCGCA	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				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						c.(2572-2574)Cgg>Tgg		telomerase reverse transcriptase							50	48	49					5																	1268645		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1268645G>A	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.2572C>T	5.37:g.1268645G>A	ENSP00000309572:p.Arg858Trp					TERT_ENST00000334602.6_Missense_Mutation_p.R858W|TERT_ENST00000508104.2_Missense_Mutation_p.S797L|TERT_ENST00000296820.5_Missense_Mutation_p.S797L	p.R858W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	2629	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		858			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2572C>T	CCDS3861.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.934|5.934	0.356328|0.356328	0.11239|0.11239	.|.	.|.	ENSG00000164362|ENSG00000164362	ENST00000310581;ENST00000334602|ENST00000296820;ENST00000508104	D;D|D;D	0.98090|0.96802	-4.71;-4.71|-4.13;-4.13	3.96|3.96	3.08|3.08	0.35506|0.35506	Reverse transcriptase (2);|.	0.722607|.	0.13465|.	N|.	0.385845|.	D|D	0.91506|0.91506	0.7318|0.7318	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	0.999992|0.999992	D;D|.	0.76494|.	0.996;0.999|.	B;P|.	0.59703|.	0.431;0.862|.	T|T	0.78378|0.78378	-0.2227|-0.2227	10|7	0.72032|0.02654	D|T	0.01|1	-19.0126|-19.0126	11.071|11.071	0.48004|0.48004	0.0:0.1889:0.8111:0.0|0.0:0.1889:0.8111:0.0	.|.	858;858|.	O14746-3;O14746|.	.;TERT_HUMAN|.	W|L	858|797	ENSP00000309572:R858W;ENSP00000334346:R858W|ENSP00000296820:S797L;ENSP00000426042:S797L	ENSP00000309572:R858W|ENSP00000296820:S797L	R|S	-|-	1|2	2|0	TERT|TERT	1321645|1321645	0.986000|0.986000	0.35501|0.35501	0.073000|0.073000	0.20177|0.20177	0.049000|0.049000	0.14656|0.14656	1.885000|1.885000	0.39678|0.39678	0.771000|0.771000	0.33359|0.33359	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.602	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			15	27	0	0	0	1	0	15	27					A	1268645	G	A	1268645	3	1	459	1	0	0	0	0	1	0	0	0	15761	1057	37	1	858	1	TERT	5	1268645	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		1268645	179646615	23	38187											
DNAH5	1767	broad.mit.edu	37	chr5	13758953	13758953	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgacaaagggcagttAcctgcttttcagtcatggcc	10	11	2	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:13758953A>T	ENST00000265104.4	-	61	10524		c.e61+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					AAGGGCAGTTACCTGCTTTTC	0.493									Kartagener syndrome																													ENST00000265104.4																			0				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						c.e61+1		dynein, axonemal, heavy chain 5							165	153	157					5																	13758953		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13758953A>T	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.10419+1T>A	5.37:g.13758953A>T								NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			61	10524	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37		CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792609	0.70452	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4484	0.44507	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13811953	1.000000	0.71417	0.949000	0.38748	0.651000	0.38670	9.219000	0.95173	2.214000	0.71695	0.528000	0.53228	.		0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	42	56	0	0	0	1	0	42	56					T	13758953	A	T	13758953	5	4	459	1	0	0	0	0	0	0	1	0	4604	405	14	5	3529	5	DNAH5	5	13758953	Splice_Site	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	12490308	13758953	167156307	24	38188											
CDH18	1016	broad.mit.edu	37	chr5	19839062	19839062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacagagacacactaggaCtggacagatgcaagatgtgc	11	8	0	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:19839062C>T	ENST00000507958.1	-	5	1024	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	CDH18_ENST00000506372.1_Missense_Mutation_p.V12I|CDH18_ENST00000511273.1_Missense_Mutation_p.V12I|CDH18_ENST00000382275.1_Missense_Mutation_p.V12I|CDH18_ENST00000274170.4_Missense_Mutation_p.V12I|CDH18_ENST00000502796.1_Missense_Mutation_p.V12I			Q13634	CAD18_HUMAN	cadherin 18, type 2	12					adherens junction organization (GO:0034332)|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)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACACTAGGACTGGACAGATG	0.423																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(34-36)Gtc>Atc		cadherin 18, type 2							171	142	152					5																	19839062		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19839062C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.34G>A	5.37:g.19839062C>T	ENSP00000425093:p.Val12Ile					CDH18_ENST00000511273.1_Missense_Mutation_p.V12I|CDH18_ENST00000382275.1_Missense_Mutation_p.V12I|CDH18_ENST00000506372.1_Missense_Mutation_p.V12I|CDH18_ENST00000502796.1_Missense_Mutation_p.V12I|CDH18_ENST00000274170.4_Missense_Mutation_p.V12I	p.V12I			Q13634	CAD18_HUMAN			5	1024	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		12					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.34G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173427	0.38413	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.93	5.93	0.95920	.	0.116294	0.64402	D	0.000015	T	0.18257	0.0438	N	0.08118	0	0.37696	D	0.924014	B;B	0.29037	0.231;0.131	B;B	0.25140	0.058;0.058	T	0.14755	-1.0461	9	.	.	.	.	18.9006	0.92440	0.0:1.0:0.0:0.0	.	12;12	B4DHG6;Q13634	.;CAD18_HUMAN	I	12	ENSP00000371710:V12I;ENSP00000425093:V12I;ENSP00000274170:V12I;ENSP00000424931:V12I;ENSP00000422138:V12I;ENSP00000425854:V12I	.	V	-	1	0	CDH18	19874819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.562000	0.60816	2.805000	0.96524	0.655000	0.94253	GTC		0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		21	39	0	0	0	1	0	21	39					T	19839062	C	T	19839062	3	4	459	1	0	0	0	0	1	0	0	0	3103	565	20	2	2382	2	CDH18	5	19839062	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	6080109	19839062	161076198	25	38189											
DHX29	54505	broad.mit.edu	37	chr5	54573002	54573002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatatgtagaaaatttttCgctgtccacagtggcactca	8	8	1	1	rs374681347		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:54573002C>T	ENST00000251636.5	-	13	2366	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	740	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GAAAATTTTTCGCTGTCCACA	0.363																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2218-2220)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 29		C	LYS/GLU	0,4406		0,0,2203	77	79	78		2218	5.9	1	5		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX29	NM_019030.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	740/1370	54573002	1,13005	2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54573002C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2218G>A	5.37:g.54573002C>T	ENSP00000251636:p.Glu740Lys					RP11-506H20.1_ENST00000506435.1_RNA	p.E740K	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			13	2366	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	740			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2218G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324176	0.60634	0.0	1.16E-4	ENSG00000067248	ENST00000251636	T	0.33654	1.4	5.91	5.91	0.95273	DEAD-like helicase (2);	0.342583	0.37809	N	0.001934	T	0.36963	0.0986	L	0.42008	1.315	0.44976	D	0.997994	B	0.15141	0.012	B	0.15484	0.013	T	0.06075	-1.0847	10	0.46703	T	0.11	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	740	Q7Z478	DHX29_HUMAN	K	740	ENSP00000251636:E740K	ENSP00000251636:E740K	E	-	1	0	DHX29	54608759	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.207000	0.42788	2.814000	0.96858	0.650000	0.86243	GAA		0.363	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		6	78	0	0	0	1	0	6	78					T	54573002	C	T	54573002	3	4	459	1	0	0	0	0	1	0	0	0	4503	893	31	1	1951	1	DHX29	5	54573002	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	34733940	54573002	126342258	26	38190											
MAST4	375449	broad.mit.edu	37	chr5	66458525	66458525	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaacagatccctgtcAtcgggtgagagcctcccagg	12	12	1	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:66458525A>G	ENST00000403625.2	+	28	4171	c.3876A>G	c.(3874-3876)tcA>tcG	p.S1292S	MAST4_ENST00000261569.7_Silent_p.S1098S|MAST4_ENST00000404260.3_Silent_p.S1295S|MAST4_ENST00000403666.1_Silent_p.S1103S|MAST4_ENST00000405643.1_Silent_p.S1113S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1295	Ser-rich.					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)		GATCCCTGTCATCGGGTGAGA	0.537																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3883-3885)tcA>tcG		microtubule associated serine/threonine kinase family member 4							88	90	90					5																	66458525		1897	4105	6002	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458525A>G	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.3876A>G	5.37:g.66458525A>G						MAST4_ENST00000403666.1_Silent_p.S1103S|MAST4_ENST00000403625.2_Silent_p.S1292S|MAST4_ENST00000405643.1_Silent_p.S1113S|MAST4_ENST00000261569.7_Silent_p.S1098S	p.S1295S			O15021	MAST4_HUMAN		Lung(70;0.011)	28	4193	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1295			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.3885A>G	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	A	5.010	0.187598	0.09547	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	T	0.33527	0.0866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44467	-0.9326	4	.	.	.	-16.5607	3.6264	0.08114	0.2438:0.3443:0.2833:0.1287	.	.	.	.	V	349	.	.	I	+	1	0	MAST4	66494281	0.000000	0.05858	0.035000	0.18076	0.585000	0.36419	-2.401000	0.01048	-2.959000	0.00290	-1.840000	0.00586	ATC		0.537	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	40	0	0	0	1	0	21	40					G	66458525	A	G	66458525	2	3	459	1	0	0	0	0	0	0	0	1	9327	204	8	3		3	MAST4	5	66458525	Silent	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	11885523	66458525	114456735	27	38191											
IL5	3567	broad.mit.edu	37	chr5	131879049	131879049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggctatcagcagagttCgatgagtagaaagcagtgcc	12	8	1	3	rs201066544		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:131879049C>T	ENST00000231454.1	-	1	165	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5	41					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of eosinophil differentiation (GO:0045645)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of podosome assembly (GO:0071803)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-5 receptor binding (GO:0005137)			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	CAGCAGAGTTCGATGAGTAGA	0.418																																						ENST00000231454.1																			0				endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4						c.(121-123)cGa>cAa		interleukin 5 (colony-stimulating factor, eosinophil)	Pranlukast(DB01411)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	140	123	129		122	-2.8	0	5		129	0,8600		0,0,4300	no	missense	IL5	NM_000879.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	41/135	131879049	1,13005	2203	4300	6503	SO:0001583	missense	3567				immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding	g.chr5:131879049C>T	X04688	CCDS4156.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000113525	ENSG00000113525		"Interleukins and interleukin receptors"	6016	protein-coding gene	gene with protein product	"interleukin-5", "T-cell replacing factor", "B cell differentiation factor I", "eosinophil differentiation factor", "colony-stimulating factor, eosinophil"	147850	"interleukin 5 (colony-stimulating factor, eosinophil)"			3498940	Standard	NM_000879		Approved	IL-5, EDF, TRF	uc003kxe.1	P05113	OTTHUMG00000059496	ENST00000231454.1:c.122G>A	5.37:g.131879049C>T	ENSP00000231454:p.Arg41Gln						p.R41Q	NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	165	-		all_cancers(142;0.0368)|Breast(839;0.198)	41					Q13840	Missense_Mutation	SNP	ENST00000231454.1	37	c.122G>A	CCDS4156.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478571	0.26511	2.27E-4	0.0	ENSG00000113525	ENST00000231454	.	.	.	5.82	-2.77	0.05877	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.806031	0.10809	N	0.631860	T	0.29093	0.0723	L	0.35854	1.095	0.09310	N	1	B	0.23854	0.092	B	0.15052	0.012	T	0.16247	-1.0409	9	0.28530	T	0.3	0.0051	11.5473	0.50700	0.0:0.3336:0.0:0.6664	.	41	P05113	IL5_HUMAN	Q	41	.	ENSP00000231454:R41Q	R	-	2	0	IL5	131906948	0.036000	0.19791	0.000000	0.03702	0.002000	0.02628	-0.801000	0.04550	-0.691000	0.05135	-0.140000	0.14226	CGA		0.418	IL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132339.1	NM_000879		15	30	0	0	0	1	0	15	30					T	131879049	C	T	131879049	3	4	459	1	0	0	0	0	1	0	0	0	7699	884	31	1	298	1	IL5	5	131879049	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	65420524	131879049	49036211	28	38192											
ZNF354A	6940	broad.mit.edu	37	chr5	178152410	178152410	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagaaccgtctttctccaCctcccagggatcttctcctt	6	17	4	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:178152410C>A	ENST00000335815.2	-	4	420	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		TCTTTCTCCACCTCCCAGGGA	0.507																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(223-225)Gtg>Ttg		zinc finger protein 354A							149	141	144					5																	178152410		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152410C>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"Zinc fingers, C2H2-type", "-"	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.223G>T	5.37:g.178152410C>A	ENSP00000337122:p.Val75Leu						p.V75L	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	420	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	75			KRAB.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.223G>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	0.333	-0.954838	0.02285	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.05513	3.43;6.21	3.25	3.25	0.37280	Krueppel-associated box (1);	.	.	.	.	T	0.04048	0.0113	N	0.12502	0.225	0.22648	N	0.998897	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	9	0.36615	T	0.2	-2.0433	8.6515	0.34038	0.0:0.7642:0.2357:0.0	.	75	O60765	Z354A_HUMAN	L	75	ENSP00000337122:V75L;ENSP00000429675:V75L	ENSP00000337122:V75L	V	-	1	0	ZNF354A	178085016	0.001000	0.12720	0.973000	0.42090	0.274000	0.26718	0.335000	0.19806	2.117000	0.64856	0.561000	0.74099	GTG		0.507	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		46	50	1	0	2.27781e-18	1	2.4167e-18	46	50					A	178152410	C	A	178152410	3	1	459	1	0	0	0	0	1	0	0	0	17861	507	18	4	1602	4	ZNF354A	5	178152410	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	46273361	178152410	2762850	29	38193											
C6orf146	222826	broad.mit.edu	37	chr6	4069947	4069947	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattgttttctatagttgaAcatgaactaacatgaatctc	5	7	3	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:4069947A>G	ENST00000274673.3	-	7	913	c.510T>C	c.(508-510)tgT>tgC	p.C170C	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	170																	CTATAGTTGAACATGAACTAA	0.393																																						ENST00000274673.3																			0											c.(508-510)tgT>tgC		family with sequence similarity 217, member A							116	107	110					6																	4069947		2203	4300	6503	SO:0001819	synonymous_variant	222826							g.chr6:4069947A>G	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.510T>C	6.37:g.4069947A>G						FAM217A_ENST00000380188.2_5'UTR	p.C170C	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	913	-			170					Q5JYK1	Silent	SNP	ENST00000274673.3	37	c.510T>C	CCDS4489.1																																																																																				0.393	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		30	35	0	0	0	1	0	30	35					G	4069947	A	G	4069947	2	3	459	1	0	0	0	0	0	0	0	1	2335	41	2	3		3	C6orf146	6	4069947	Silent	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		4069947	167045120	30	38194											
OR12D2	26529	broad.mit.edu	37	chr6	29364624	29364624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttctgatgattgtcatctccGatcctagactccattccctt	5	13	3	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:29364624G>T	ENST00000383555.2	+	1	209	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGTCATCTCCGATCCTAGACT	0.453																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(148-150)Gat>Tat		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							121	126	124					6																	29364624		1510	2709	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364624G>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.148G>T	6.37:g.29364624G>T	ENSP00000373047:p.Asp50Tyr					OR5V1_ENST00000377154.1_Intron	p.D50Y	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	209	+			50					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.148G>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	7.625	0.677588	0.14841	.	.	ENSG00000168787	ENST00000383555	T	0.02974	4.09	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.353767	0.24674	N	0.036538	T	0.12433	0.0302	H	0.95679	3.705	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.10428	-1.0630	10	0.87932	D	0	.	11.3445	0.49552	0.0:0.0:0.8183:0.1816	.	50	P58182	O12D2_HUMAN	Y	50	ENSP00000373047:D50Y	ENSP00000373047:D50Y	D	+	1	0	OR12D2	29472603	0.000000	0.05858	0.025000	0.17156	0.004000	0.04260	-0.393000	0.07305	2.090000	0.63153	0.411000	0.27672	GAT		0.453	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			36	64	1	0	6.97489e-18	1	7.31103e-18	36	64					T	29364624	G	T	29364624	3	4	459	1	0	0	0	0	1	0	0	0	10931	1058	37	4	150	4	OR12D2	6	29364624	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	25294677	29364624	141750443	31	38195											
GPR111	222611	broad.mit.edu	37	chr6	47647822	47647822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggaggattcacgtttgGttcagccatttgaagacaat	11	6	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:47647822G>T	ENST00000296862.1	+	5	487	c.487G>T	c.(487-489)Gtt>Ttt	p.V163F	GPR111_ENST00000398742.2_Missense_Mutation_p.V95F|GPR111_ENST00000507065.1_Missense_Mutation_p.V95F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	163					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						TTCACGTTTGGTTCAGCCATT	0.308																																						ENST00000398742.2																			0				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						c.(283-285)Gtt>Ttt		G protein-coupled receptor 111							55	51	52					6																	47647822		1794	4066	5860	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647822G>T	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.487G>T	6.37:g.47647822G>T	ENSP00000296862:p.Val163Phe					GPR111_ENST00000296862.1_Missense_Mutation_p.V163F|GPR111_ENST00000507065.1_Missense_Mutation_p.V95F	p.V95F			Q8IZF7	GP111_HUMAN			4	332	+			163					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.283G>T		.	.	.	.	.	.	.	.	.	.	G	8.252	0.809162	0.16537	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.22336	1.96;1.96;1.96	4.23	-1.89	0.07689	.	1.393810	0.05076	N	0.482464	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.002	T	0.40887	-0.9539	10	0.15066	T	0.55	.	5.2355	0.15445	0.4048:0.0:0.4622:0.133	.	95;163	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	F	95;163;95	ENSP00000422934:V95F;ENSP00000296862:V163F;ENSP00000381727:V95F	ENSP00000296862:V163F	V	+	1	0	GPR111	47755781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.303000	0.08210	-0.400000	0.07656	0.551000	0.68910	GTT		0.308	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		11	23	1	0	1.58986e-06	1	1.62727e-06	11	23					T	47647822	G	T	47647822	3	4	459	1	0	0	0	0	1	0	0	0	6628	1261	44	4	297	4	GPR111	6	47647822	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	18283198	47647822	123467245	32	38196											
FUCA2	2519	broad.mit.edu	37	chr6	143818531	143818531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattccctcttacctctgTtgcccccagaatagctttgg	6	13	2	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:143818531T>C	ENST00000002165.6	-	6	1313	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	420					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)		CTTACCTCTGTTGCCCCCAGA	0.393																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1258-1260)Aca>Gca		fucosidase, alpha-L- 2, plasma							73	74	73					6																	143818531		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143818531T>C	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.1258A>G	6.37:g.143818531T>C	ENSP00000002165:p.Thr420Ala					RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000589563.1_RNA	p.T420A	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	6	1313	-			420					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.1258A>G	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342474	0.61073	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.70749	0.49;-0.51	5.6	5.6	0.85130	.	0.264584	0.42682	D	0.000665	T	0.74122	0.3675	M	0.78916	2.43	0.80722	D	1	D;B	0.58620	0.983;0.103	P;B	0.53102	0.718;0.056	T	0.76493	-0.2939	10	0.44086	T	0.13	-15.5236	15.786	0.78304	0.0:0.0:0.0:1.0	.	99;420	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	A	420;99	ENSP00000002165:T420A;ENSP00000398119:T99A	ENSP00000002165:T420A	T	-	1	0	FUCA2	143860224	1.000000	0.71417	0.931000	0.37212	0.104000	0.19210	5.233000	0.65337	2.128000	0.65567	0.519000	0.50382	ACA		0.393	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		22	26	0	0	0	1	0	22	26					C	143818531	T	C	143818531	3	2	459	1	0	0	0	0	1	0	0	0	6095	1725	60	3	153	3	FUCA2	6	143818531	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	96170709	143818531	27296536	33	38197											
OPRM1	4988	broad.mit.edu	37	chr6	154412154	154412154	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctgctgaagatctgTgttttcatcttcgccttcat	7	10	4	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:154412154T>A	ENST00000330432.7	+	3	948	c.711T>A	c.(709-711)tgT>tgA	p.C237*	OPRM1_ENST00000434900.2_Nonsense_Mutation_p.C330*|OPRM1_ENST00000337049.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000360422.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000518759.1_Nonsense_Mutation_p.C156*|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000524163.1_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522236.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000414028.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522555.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000520708.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000435918.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000428397.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000452687.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000229768.5_Nonsense_Mutation_p.C237*	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	237					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGAAGATCTGTGTTTTCATCT	0.438																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(709-711)tgT>tgA		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						192	180	184					6																	154412154		2023	4207	6230	SO:0001587	stop_gained	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412154T>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.711T>A	6.37:g.154412154T>A	ENSP00000328264:p.Cys237*					OPRM1_ENST00000452687.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000520708.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000522555.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000518759.1_Nonsense_Mutation_p.C156*|OPRM1_ENST00000337049.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000434900.2_Nonsense_Mutation_p.C330*|OPRM1_ENST00000524163.1_Nonsense_Mutation_p.C237*|OPRM1_ENST00000428397.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000360422.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000330432.7_Nonsense_Mutation_p.C237*|OPRM1_ENST00000229768.5_Nonsense_Mutation_p.C237*|OPRM1_ENST00000435918.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522236.1_Nonsense_Mutation_p.C137*	p.C237*	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	761	+		Ovarian(120;0.196)	237					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Nonsense_Mutation	SNP	ENST00000330432.7	37	c.711T>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	T	32	5.106410	0.94292	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	.	.	.	5.82	0.776	0.18532	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	9.5798	0.39481	0.0:0.2614:0.0:0.7386	.	.	.	.	X	330;137;156;237;237;237;237;237;237;237;237;237;237;137;137	.	ENSP00000229768:C237X	C	+	3	2	OPRM1	154453847	0.964000	0.33143	0.998000	0.56505	0.989000	0.77384	0.100000	0.15231	-0.078000	0.12730	-0.263000	0.10527	TGT		0.438	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		43	49	0	0	0	1	0	43	49					A	154412154	T	A	154412154	4	1	459	1	0	0	0	0	0	1	0	0	10887	1702	59	5	1055	5	OPRM1	6	154412154	Nonsense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	10593623	154412154	16702913	34	38198											
SDK1	221935	broad.mit.edu	37	chr7	4091419	4091419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcaccacccctggggaCgggcctcccagcacacctca	9	19	2	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:4091419C>T	ENST00000404826.2	+	19	3007	c.2868C>T	c.(2866-2868)gaC>gaT	p.D956D	SDK1_ENST00000389531.3_Silent_p.D956D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	956	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D956D(1)		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)		CCCCTGGGGACGGGCCTCCCA	0.527																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.D956D(1)	prostate(1)	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						c.(2866-2868)gaC>gaT		sidekick cell adhesion molecule 1							140	129	132					7																	4091419		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4091419C>T	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.2868C>T	7.37:g.4091419C>T						SDK1_ENST00000389531.3_Silent_p.D956D	p.D956D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	3007	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	956			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2868C>T	CCDS34590.1																																																																																				0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		30	40	0	0	0	1	0	30	40					T	4091419	C	T	4091419	2	4	459	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4091419	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		4091419	155047244	35	38199											
INHBA	3624	broad.mit.edu	37	chr7	41739744	41739744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgccgccttgggtaccgGctgggtgacatcgggtctct	15	12	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:41739744G>A	ENST00000242208.4	-	2	475	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P77S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	77					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|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)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTGGGTACCGGCTGGGTGACA	0.532										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(229-231)Ccg>Tcg		inhibin, beta A							265	285	278					7																	41739744		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739744G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.229C>T	7.37:g.41739744G>A	ENSP00000242208:p.Pro77Ser	TSP Lung(11;0.080)				INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P77S|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA	p.P77S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	475	-			77					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.229C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962296	0.74016	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62639	0.01;0.01	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.112267	0.64402	D	0.000007	T	0.69260	0.3091	M	0.64170	1.965	0.58432	D	0.999992	P	0.52692	0.955	P	0.54889	0.763	T	0.64829	-0.6315	10	0.21540	T	0.41	-19.4467	14.246	0.65988	0.0:0.0:0.851:0.149	.	77	P08476	INHBA_HUMAN	S	77	ENSP00000242208:P77S;ENSP00000397197:P77S	ENSP00000242208:P77S	P	-	1	0	INHBA	41706269	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.487000	0.60293	2.576000	0.86940	0.655000	0.94253	CCG		0.532	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			5	425	0	0	0	1	0	5	425					A	41739744	G	A	41739744	3	1	459	1	0	0	0	0	1	0	0	0	7741	1203	42	2	1059	2	INHBA	7	41739744	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	37648325	41739744	117398919	36	38200											
DDC	1644	broad.mit.edu	37	chr7	50611777	50611777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccttcggaattcacttgCgttcatggtgtctgggctct	10	11	5	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:50611777C>T	ENST00000444124.2	-	2	207	c.7G>A	c.(7-9)Gca>Aca	p.A3T	DDC_ENST00000357936.5_Missense_Mutation_p.A3T|DDC_ENST00000431062.1_Missense_Mutation_p.A3T|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.A3T|DDC_ENST00000380984.4_Missense_Mutation_p.A3T	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	3					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)	AATTCACTTGCGTTCATGGTG	0.512																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(7-9)Gca>Aca		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						186	147	160					7																	50611777		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611777C>T		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.7G>A	7.37:g.50611777C>T	ENSP00000403644:p.Ala3Thr					DDC_ENST00000431062.1_Missense_Mutation_p.A3T|DDC_ENST00000357936.5_Missense_Mutation_p.A3T|DDC_ENST00000426377.1_Missense_Mutation_p.A3T|DDC_ENST00000380984.4_Missense_Mutation_p.A3T	p.A3T	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			2	207	-	Glioma(55;0.08)|all_neural(89;0.245)		3					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.7G>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021539	0.35701	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984;ENST00000420203;ENST00000432526	T;T;T;T;T;T	0.48836	1.1;1.1;1.1;1.1;1.1;0.8	5.92	-7.18	0.01505	Pyridoxal phosphate-dependent transferase, major domain (1);	0.556195	0.20859	N	0.084394	T	0.33294	0.0858	L	0.58925	1.835	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.12941	-1.0528	10	0.42905	T	0.14	1.6178	7.7284	0.28773	0.4103:0.389:0.0:0.2007	.	3;3	Q53Y41;P20711	.;DDC_HUMAN	T	3	ENSP00000350616:A3T;ENSP00000399184:A3T;ENSP00000395069:A3T;ENSP00000403644:A3T;ENSP00000370371:A3T;ENSP00000408626:A3T	ENSP00000350616:A3T	A	-	1	0	DDC	50579271	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.764000	0.04735	-1.244000	0.02516	-3.134000	0.00060	GCA		0.512	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	106	0	0	0	1	0	4	106					T	50611777	C	T	50611777	3	4	459	1	0	0	0	0	1	0	0	0	4325	768	27	1	1487	1	DDC	7	50611777	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	8872033	50611777	108526886	37	38201											
TRIM56	81844	broad.mit.edu	37	chr7	100730605	100730605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagcatggtttcccaCgggtcctcgccctccctcct	9	19	0	0	rs191231311		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:100730605C>T	ENST00000306085.6	+	3	309	c.12C>T	c.(10-12)caC>caT	p.H4H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	4					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGTTTCCCACGGGTCCTCGC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17355	0.0		0.0	False		,,,				2504	0.0				Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(10-12)caC>caT		tripartite motif containing 56							93	106	102					7																	100730605		2097	4219	6316	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730605C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.12C>T	7.37:g.100730605C>T							p.H4H	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	309	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.12C>T	CCDS43625.1																																																																																				0.637	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		8	130	0	0	0	1	0	8	130					T	100730605	C	T	100730605	2	4	459	1	0	0	0	0	0	0	0	1	16527	535	19	1		1	TRIM56	7	100730605	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	50118828	100730605	58408058	38	38202											
CPA4	51200	broad.mit.edu	37	chr7	129962408	129962408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgagttgagagatacCgggacctatggcttcctcct	10	10	0	3	rs143728099	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:129962408C>T	ENST00000222482.4	+	11	1186	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	CPA4_ENST00000493259.1_Silent_p.T282T|CPA4_ENST00000445470.2_Silent_p.T353T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	386					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGAGATACCGGGACCTATG	0.537													C|||	8	0.00159744	0.0	0.0014	5008	,	,		21870	0.0		0.0	False		,,,				2504	0.0072					ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1156-1158)acC>acT		carboxypeptidase A4		C	,	1,4405	2.1+/-5.4	0,1,2202	177	160	166		1059,1158	-10.2	0.1	7	dbSNP_134	166	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	CPA4	NM_001163446.1,NM_016352.3	,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,	353/389,386/422	129962408	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129962408C>T	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1158C>T	7.37:g.129962408C>T						CPA4_ENST00000445470.2_Silent_p.T353T|CPA4_ENST00000493259.1_Silent_p.T282T	p.T386T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			11	1186	+	Melanoma(18;0.0435)		386					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.1158C>T	CCDS5818.1																																																																																				0.537	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		45	62	0	0	0	1	0	45	62					T	129962408	C	T	129962408	2	4	459	1	0	0	0	0	0	0	0	1	3792	639	23	1		1	CPA4	7	129962408	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	29231803	129962408	29176255	39	38203											
NCAPG2	54892	broad.mit.edu	37	chr7	158443658	158443658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcctctgaacagaatAaagcagctacaagaaaacac	8	9	1	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:158443658A>G	ENST00000409423.1	-	25	3113	c.2941T>C	c.(2941-2943)Tat>Cat	p.Y981H	NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y981H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y981H|NCAPG2_ENST00000409339.3_Missense_Mutation_p.Y981H|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000275830.10_Intron	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	981					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)			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)		TGAACAGAATAAAGCAGCTAC	0.393																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2941-2943)Tat>Cat		non-SMC condensin II complex, subunit G2							86	85	86					7																	158443658		1857	4111	5968	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158443658A>G	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.2941T>C	7.37:g.158443658A>G	ENSP00000386569:p.Tyr981His					NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y981H|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Missense_Mutation_p.Y981H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y981H	p.Y981H			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	24	3054	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	981					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2941T>C	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	A	0.873	-0.731271	0.03135	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000545393;ENST00000449727	T;T;T;T	0.27720	1.66;1.66;1.65;1.65	5.11	0.216	0.15258	.	0.605714	0.17528	N	0.170979	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.32107	-0.9919	10	0.15066	T	0.55	-5.3947	8.0316	0.30467	0.4593:0.0:0.5407:0.0	.	981;424;981	Q86XI2-2;B4DHE5;Q86XI2	.;.;CNDG2_HUMAN	H	981;981;981;424;981	ENSP00000348657:Y981H;ENSP00000386569:Y981H;ENSP00000387007:Y981H;ENSP00000388326:Y981H	ENSP00000348657:Y981H	Y	-	1	0	NCAPG2	158136419	0.128000	0.22383	0.290000	0.24890	0.352000	0.29268	1.000000	0.29770	0.280000	0.22209	-0.290000	0.09829	TAT		0.393	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		4	69	0	0	0	1	0	4	69					G	158443658	A	G	158443658	3	3	459	1	0	0	0	0	1	0	0	0	10208	362	13	3	510	3	NCAPG2	7	158443658	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	28481250	158443658	695005	40	38204											
POLB	5423	broad.mit.edu	37	chr8	42229122	42229122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggatagtgaaaaagacAtctttgattacatccagtgg	10	6	1	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:42229122A>G	ENST00000265421.4	+	14	1125	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	POLB_ENST00000521492.1_Missense_Mutation_p.I38V|POLB_ENST00000538005.1_Missense_Mutation_p.I165V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	319					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	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;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TGAAAAAGACATCTTTGATTA	0.438								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(955-957)Atc>Gtc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						50	51	51					8																	42229122		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42229122A>G		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.955A>G	8.37:g.42229122A>G	ENSP00000265421:p.Ile319Val					POLB_ENST00000538005.1_Missense_Mutation_p.I165V|POLB_ENST00000521492.1_Missense_Mutation_p.I38V	p.I319V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		14	1125	+	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;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	319					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.955A>G	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.20|12.20	1.867473|1.867473	0.32977|0.32977	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290;ENST00000518579;ENST00000517393|ENST00000265421;ENST00000538005;ENST00000521492	.|T;T;T	.|0.52057	.|0.68;1.11;1.11	5.93|5.93	5.93|5.93	0.95920|0.95920	.|DNA-directed DNA polymerase X (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31857|0.31857	0.0810|0.0810	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21147	.|0.03;0.052	.|B;B	.|0.20184	.|0.021;0.028	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.14656	.|T	.|0.56	-4.2099|-4.2099	14.3304|14.3304	0.66553|0.66553	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|319;319	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	R|V	220;199;66|319;165;38	.|ENSP00000265421:I319V;ENSP00000440497:I165V;ENSP00000430831:I38V	.|ENSP00000265421:I319V	H|I	+|+	2|1	0|0	POLB|POLB	42348279|42348279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	9.169000|9.169000	0.94788|0.94788	2.261000|2.261000	0.74972|0.74972	0.477000|0.477000	0.44152|0.44152	CAT|ATC		0.438	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		12	41	0	0	0	1	0	12	41					G	42229122	A	G	42229122	3	3	459	1	0	0	0	0	1	0	0	0	12189	217	8	3	1009	3	POLB	8	42229122	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		42229122	104134900	41	38205											
UBR5	51366	broad.mit.edu	37	chr8	103335639	103335639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catattccaaactgactccaTtaagacaccaactttaggaa	4	11	0	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:103335639T>C	ENST00000520539.1	-	14	2290	c.1684A>G	c.(1684-1686)Atg>Gtg	p.M562V	UBR5_ENST00000220959.4_Missense_Mutation_p.M562V|UBR5_ENST00000521922.1_Missense_Mutation_p.M556V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	562					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACTGACTCCATTAAGACACCA	0.363																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1684-1686)Atg>Gtg		ubiquitin protein ligase E3 component n-recognin 5							92	84	87					8																	103335639		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103335639T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1684A>G	8.37:g.103335639T>C	ENSP00000429084:p.Met562Val					UBR5_ENST00000521922.1_Missense_Mutation_p.M556V|UBR5_ENST00000220959.4_Missense_Mutation_p.M562V	p.M562V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		14	2290	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		562					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1684A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205625	0.39003	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	5.67	5.67	0.87782	.	0.050291	0.85682	D	0.000000	T	0.33000	0.0848	N	0.24115	0.695	0.39675	D	0.970815	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12319	-1.0552	10	0.62326	D	0.03	.	15.9014	0.79380	0.0:0.0:0.0:1.0	.	556;562	E7EMW7;O95071	.;UBR5_HUMAN	V	562;562;556	ENSP00000429084:M562V;ENSP00000220959:M562V;ENSP00000427819:M556V	ENSP00000220959:M562V	M	-	1	0	UBR5	103404815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.756000	0.47549	2.149000	0.67028	0.482000	0.46254	ATG		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		16	29	0	0	0	1	0	16	29					C	103335639	T	C	103335639	3	2	459	1	0	0	0	0	1	0	0	0	16902	1493	52	3	6899	3	UBR5	8	103335639	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	61106517	103335639	43028383	42	38206											
TG	7038	broad.mit.edu	37	chr8	133975244	133975244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttttttcctcctagattctGacatggggtctcggcctgag	10	10	2	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:133975244G>C	ENST00000220616.4	+	29	5513	c.5473G>C	c.(5473-5475)Gac>Cac	p.D1825H	TG_ENST00000542445.1_Missense_Mutation_p.D195H|TG_ENST00000519543.1_5'Flank|TG_ENST00000377869.1_Missense_Mutation_p.D1768H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1825					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)		CCTAGATTCTGACATGGGGTC	0.463																																						ENST00000220616.4																			0				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						c.(5473-5475)Gac>Cac		thyroglobulin							306	288	294					8																	133975244		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133975244G>C	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.5473G>C	8.37:g.133975244G>C	ENSP00000220616:p.Asp1825His					TG_ENST00000377869.1_Missense_Mutation_p.D1768H|TG_ENST00000542445.1_Missense_Mutation_p.D195H	p.D1825H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	29	5513	+	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)	1825					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5473G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.156542|3.156542	0.57259|0.57259	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.69435|.	-0.19;-0.19;-0.4|.	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	0.179662|.	0.38837|.	N|.	0.001556|.	T|.	0.73969|.	0.3655|.	M|M	0.78637|0.78637	2.42|2.42	0.41194|0.41194	D|D	0.986321|0.986321	D;D|.	0.89917|.	1.0;0.998|.	D;P|.	0.73380|.	0.98;0.887|.	T|.	0.74878|.	-0.3514|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.8057|12.8057	0.57612|0.57612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	195;1825|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	H|S	1768;631;1825;195|280	ENSP00000367100:D1768H;ENSP00000220616:D1825H;ENSP00000441693:D195H|.	ENSP00000220616:D1825H|.	D|X	+|+	1|2	0|2	TG|TG	134044426|134044426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	2.959000|2.959000	0.49153|0.49153	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GAC|TGA		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	269	0	0	0	1	0	4	269					C	133975244	G	C	133975244	3	2	459	1	0	0	0	0	1	0	0	0	15810	1290	45	4	5587	4	TG	8	133975244	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	30639605	133975244	12388778	43	38207											
C9orf11	54586	broad.mit.edu	37	chr9	27284786	27284786	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctatggaaatgatatccgTcattatcttagattctgatg	8	7	3	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:27284786T>C	ENST00000380032.3	-	8	903	c.820A>G	c.(820-822)Acg>Gcg	p.T274A	LINC00032_ENST00000425633.1_lincRNA|EQTN_ENST00000537675.1_Missense_Mutation_p.T245A	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	274			T -> K (in dbSNP:rs41305329). {ECO:0000269|PubMed:11118625}.		acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											ATGATATCCGTCATTATCTTA	0.408																																						ENST00000380032.3																			0											c.(820-822)Acg>Gcg		equatorin, sperm acrosome associated							151	133	139					9																	27284786		2203	4300	6503	SO:0001583	missense	54586							g.chr9:27284786T>C	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"Acr formation associated factor", "Acrosome formation associated factor", "sperm acrosome associated 8"		"chromosome 9 open reading frame 11", "equatorin"	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.820A>G	9.37:g.27284786T>C	ENSP00000369371:p.Thr274Ala					EQTN_ENST00000537675.1_Missense_Mutation_p.T245A	p.T274A	NM_020641.2	NP_065692.2					8	903	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	c.820A>G	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	.	9.349	1.064942	0.20067	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.32272	1.46;1.87	3.79	-1.36	0.09085	.	0.985071	0.08286	N	0.969176	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B;B	0.22346	0.028;0.068	B;B	0.17722	0.019;0.019	T	0.25710	-1.0124	10	0.66056	D	0.02	.	3.0561	0.06184	0.1894:0.3234:0.0:0.4872	.	245;274	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	A	245;274	ENSP00000441630:T245A;ENSP00000369371:T274A	ENSP00000369371:T274A	T	-	1	0	C9orf11	27274786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.042000	0.12063	-0.257000	0.09459	-0.451000	0.05528	ACG		0.408	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		42	58	0	0	0	1	0	42	58					C	27284786	T	C	27284786	3	2	459	1	0	0	0	0	1	0	0	0	2448	1667	58	3	68	3	C9orf11	9	27284786	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		27284786	113928645	44	38208											
RC3H2	54542	broad.mit.edu	37	chr9	125652610	125652610	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctaaaaactggcaTcctcgagccctgacagcggc	10	16	0	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:125652610T>A	ENST00000373670.1	-	3	1164	c.564A>T	c.(562-564)ggA>ggT	p.G188G	RC3H2_ENST00000357244.2_Silent_p.G188G|RC3H2_ENST00000373665.2_Silent_p.G188G|RC3H2_ENST00000471874.2_Silent_p.G188G|RC3H2_ENST00000335387.5_Silent_p.G188G|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000423239.2_Silent_p.G188G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	188	ROQ.				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						AAAACTGGCATCCTCGAGCCC	0.473																																						ENST00000373670.1																			0				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						c.(562-564)ggA>ggT		ring finger and CCCH-type domains 2							55	55	55					9																	125652610		1900	4120	6020	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125652610T>A	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.564A>T	9.37:g.125652610T>A						RC3H2_ENST00000471874.2_Silent_p.G188G|RC3H2_ENST00000423239.2_Silent_p.G188G|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000373665.2_Silent_p.G188G|RC3H2_ENST00000335387.5_Silent_p.G188G|RC3H2_ENST00000357244.2_Silent_p.G188G	p.G188G			Q9HBD1	RC3H2_HUMAN			3	1164	-			188					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	c.564A>T	CCDS43874.1																																																																																				0.473	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		4	39	0	0	0	1	0	4	39					A	125652610	T	A	125652610	2	1	459	1	0	0	0	0	0	0	0	1	13167	1422	50	5		5	RC3H2	9	125652610	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	98367824	125652610	15560821	45	38209											
PRRX2	51450	broad.mit.edu	37	chr9	132482974	132482974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctacagccaggaggccGccatcgagcagcccgtggct	13	15	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:132482974G>A	ENST00000372469.4	+	3	774	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	183					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)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CCAGGAGGCCGCCATCGAGCA	0.647																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(547-549)Gcc>Acc		paired related homeobox 2							48	52	51					9																	132482974		2203	4300	6503	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132482974G>A	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"Homeoboxes / PRD class"	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.547G>A	9.37:g.132482974G>A	ENSP00000361547:p.Ala183Thr						p.A183T	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			3	774	+		Ovarian(14;0.00556)	183					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.547G>A	CCDS6926.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698128	0.68386	.	.	ENSG00000167157	ENST00000372469	D	0.90069	-2.61	5.42	4.5	0.54988	.	0.118823	0.56097	D	0.000027	D	0.88070	0.6338	L	0.52573	1.65	0.48830	D	0.999713	D	0.67145	0.996	P	0.49683	0.619	D	0.85411	0.1137	10	0.19590	T	0.45	.	14.6926	0.69096	0.0:0.0:0.8538:0.1462	.	183	Q99811	PRRX2_HUMAN	T	183	ENSP00000361547:A183T	ENSP00000361547:A183T	A	+	1	0	PRRX2	131522795	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	6.176000	0.71955	1.383000	0.46405	0.561000	0.74099	GCC		0.647	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		28	60	0	0	0	1	0	28	60					A	132482974	G	A	132482974	3	1	459	1	0	0	0	0	1	0	0	0	12613	1087	38	1	557	1	PRRX2	9	132482974	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	6830364	132482974	8730457	46	38210											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431045	37431045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacatctgagaaatttaCgtgggcagcaaaaggaagac	11	6	1	3	rs200264724		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:37431045C>T	ENST00000602533.1	+	7	1151	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T351M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T351M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	407					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAATTTACGTGGGCAGCA	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1051-1053)aCg>aTg		ankyrin repeat domain 30A							102	102	102					10																	37431045		1846	4086	5932	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431045C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1052C>T	10.37:g.37431045C>T	ENSP00000473551:p.Thr351Met					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T351M|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T351M	p.T351M			Q9BXX3	AN30A_HUMAN			7	1151	+			407					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1052C>T		.	.	.	.	.	.	.	.	.	.	.	10.65	1.408766	0.25378	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.37915	1.28;1.17	.	.	.	.	.	.	.	.	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.56088	0.791	T	0.15665	-1.0429	7	0.56958	D	0.05	.	.	.	.	.	407	Q9BXX3	AN30A_HUMAN	M	351	ENSP00000354432:T351M;ENSP00000363792:T351M	ENSP00000354432:T351M	T	+	2	0	ANKRD30A	37471051	0.822000	0.29219	0.224000	0.23877	0.224000	0.24922	0.866000	0.27954	0.088000	0.17205	0.089000	0.15464	ACG		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		43	51	0	0	0	1	0	43	51					T	37431045	C	T	37431045	3	4	459	1	0	0	0	0	1	0	0	0	658	536	19	1	1078	1	ANKRD30A	10	37431045	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		37431045	98103702	47	38211											
OPN4	94233	broad.mit.edu	37	chr10	88418319	88418319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggccatcgccctggaccGctacctggtaatcacacgcc	10	17	1	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:88418319G>A	ENST00000241891.5	+	4	670	c.503G>A	c.(502-504)cGc>cAc	p.R168H	OPN4_ENST00000372071.2_Missense_Mutation_p.R179H	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGACCGCTACCTGGTA	0.617																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(535-537)cGc>cAc		opsin 4							92	81	84					10																	88418319		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418319G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.503G>A	10.37:g.88418319G>A	ENSP00000241891:p.Arg168His					OPN4_ENST00000241891.5_Missense_Mutation_p.R168H	p.R179H	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			5	763	+			168					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.536G>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491836	0.96339	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	D;D;D	0.97161	-4.27;-4.27;-4.27	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.132116	0.49916	D	0.000140	D	0.99324	0.9763	H	0.99675	4.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.98272	1.0504	10	0.87932	D	0	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	179;168;179	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	H	179;168;179	ENSP00000361141:R179H;ENSP00000241891:R168H;ENSP00000393132:R179H	ENSP00000241891:R168H	R	+	2	0	OPN4	88408299	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.838000	0.99474	2.434000	0.82447	0.561000	0.74099	CGC		0.617	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		15	26	0	0	0	1	0	15	26					A	88418319	G	A	88418319	3	1	459	1	0	0	0	0	1	0	0	0	10882	1087	38	1	554	1	OPN4	10	88418319	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	50987274	88418319	47116428	48	38212											
NT5C2	22978	broad.mit.edu	37	chr10	104934622	104934622	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatacttaccgatgatAggcttctcgacgatactttt	6	9	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:104934622A>T	ENST00000404739.3	-	1	117	c.94T>A	c.(94-96)Tat>Aat	p.Y32N	NT5C2_ENST00000343289.5_Missense_Mutation_p.Y32N|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.Y32N			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	32					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACCGATGATAGGCTTCTCGA	0.383																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(94-96)Tat>Aat		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						219	202	208					10																	104934622		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104934622A>T	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.94T>A	10.37:g.104934622A>T	ENSP00000383960:p.Tyr32Asn					NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.Y32N|NT5C2_ENST00000404739.3_Missense_Mutation_p.Y32N	p.Y32N	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	2	181	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	32					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.94T>A	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.045018	0.36085	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000452156	T;T;T	0.16324	2.35;2.35;2.35	5.39	5.39	0.77823	HAD-like domain (1);	0.184661	0.48767	D	0.000162	T	0.10895	0.0266	N	0.14661	0.345	0.80722	D	1	B	0.24258	0.1	B	0.11329	0.006	T	0.16394	-1.0404	10	0.27785	T	0.31	-4.5084	14.3952	0.67005	1.0:0.0:0.0:0.0	.	32	P49902	5NTC_HUMAN	N	32	ENSP00000339479:Y32N;ENSP00000383960:Y32N;ENSP00000396468:Y32N	ENSP00000339479:Y32N	Y	-	1	0	NT5C2	104924612	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.498000	0.66931	2.024000	0.59613	0.528000	0.53228	TAT		0.383	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		28	82	0	0	0	1	0	28	82					T	104934622	A	T	104934622	3	4	459	1	0	0	0	0	1	0	0	0	10687	420	15	5	1659	5	NT5C2	10	104934622	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	16516303	104934622	30600125	49	38213											
OR4C15	81309	broad.mit.edu	37	chr11	55322062	55322062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattgcaactgttgggggcAacatgctaattgtagtaacc	10	8	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:55322062A>G	ENST00000314644.2	+	1	280	c.280A>G	c.(280-282)Aac>Gac	p.N94D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	40						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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTTGGGGGCAACATGCTAAT	0.438										HNSCC(20;0.049)																												ENST00000314644.2																			0				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						c.(280-282)Aac>Gac		olfactory receptor, family 4, subfamily C, member 15							156	133	141					11																	55322062		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322062A>G	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.280A>G	11.37:g.55322062A>G	ENSP00000324958:p.Asn94Asp	HNSCC(20;0.049)					p.N94D	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	280	+			40					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.280A>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118758	0.77323	.	.	ENSG00000181939	ENST00000314644	T	0.75704	-0.96	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.91202	0.7228	H	0.98980	4.39	0.33561	D	0.597394	D	0.76494	0.999	D	0.70227	0.968	D	0.96063	0.9040	9	0.87932	D	0	.	12.9048	0.58145	1.0:0.0:0.0:0.0	.	40	Q8NGM1	OR4CF_HUMAN	D	94	ENSP00000324958:N94D	ENSP00000324958:N94D	N	+	1	0	OR4C15	55078638	0.999000	0.42202	0.709000	0.30452	0.866000	0.49608	5.699000	0.68310	2.152000	0.67230	0.317000	0.21355	AAC		0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		12	146	0	0	0	1	0	12	146					G	55322062	A	G	55322062	3	3	459	1	0	0	0	0	1	0	0	0	11048	130	5	3	282	3	OR4C15	11	55322062	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		55322062	79684454	50	38214											
MTNR1B	4544	broad.mit.edu	37	chr11	92714787	92714787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcttcaatatcactgCcatcgccattaaccgctact	4	15	4	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:92714787C>T	ENST00000257068.2	+	2	404	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	133					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)	AATATCACTGCCATCGCCATT	0.597																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(397-399)gCc>gTc		melatonin receptor 1B	Ramelteon(DB00980)						139	122	128					11																	92714787		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714787C>T	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.398C>T	11.37:g.92714787C>T	ENSP00000257068:p.Ala133Val						p.A133V	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	404	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	133						Missense_Mutation	SNP	ENST00000257068.2	37	c.398C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896955	0.52121	.	.	ENSG00000134640	ENST00000257068	T	0.38401	1.14	3.97	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.133787	0.50627	N	0.000112	T	0.44222	0.1283	M	0.62209	1.925	0.36479	D	0.867735	P	0.52061	0.95	P	0.57283	0.817	T	0.46386	-0.9195	10	0.34782	T	0.22	-14.1024	5.9204	0.19078	0.0:0.6713:0.1564:0.1723	.	133	P49286	MTR1B_HUMAN	V	133	ENSP00000257068:A133V	ENSP00000257068:A133V	A	+	2	0	MTNR1B	92354435	0.997000	0.39634	0.879000	0.34478	0.629000	0.37895	2.043000	0.41231	0.465000	0.27167	-0.339000	0.08088	GCC		0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			20	44	0	0	0	1	0	20	44					T	92714787	C	T	92714787	3	4	459	1	0	0	0	0	1	0	0	0	9952	739	26	2	404	2	MTNR1B	11	92714787	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	37392725	92714787	42291729	51	38215											
DSCAML1	57453	broad.mit.edu	37	chr11	117310638	117310638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgcccccaaaggagaTgatctttgctggggctacag	13	11	1	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:117310638T>C	ENST00000321322.6	-	22	4058	c.4057A>G	c.(4057-4059)Atc>Gtc	p.I1353V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1083V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1293	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAAAGGAGATGATCTTTGCT	0.557																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4057-4059)Atc>Gtc		Down syndrome cell adhesion molecule like 1							137	118	125					11																	117310638		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310638T>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4057A>G	11.37:g.117310638T>C	ENSP00000315465:p.Ile1353Val					DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1083V	p.I1353V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	22	4058	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1293			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4057A>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414447	0.25465	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.26373	1.74;1.74	4.89	4.89	0.63831	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14098	0.0341	N	0.05467	-0.045	0.44562	D	0.997526	B	0.19331	0.035	B	0.20577	0.03	T	0.11299	-1.0593	9	0.22706	T	0.39	.	13.6324	0.62202	0.0:0.0:0.0:1.0	.	1293	Q8TD84	DSCL1_HUMAN	V	1083;1353;1060	ENSP00000434335:I1083V;ENSP00000315465:I1353V	ENSP00000315465:I1353V	I	-	1	0	DSCAML1	116815848	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	1.027000	0.30115	2.062000	0.61559	0.459000	0.35465	ATC		0.557	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	86	0	0	0	1	0	5	86					C	117310638	T	C	117310638	3	2	459	1	0	0	0	0	1	0	0	0	4769	1464	51	3	2332	3	DSCAML1	11	117310638	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	24595851	117310638	17695878	52	38216											
CHEK1	1111	broad.mit.edu	37	chr11	125497608	125497608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattaagaaagagatctgtAtcaataaaatgctaaatcat	5	4	3	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:125497608A>G	ENST00000534070.1	+	3	427	c.172A>G	c.(172-174)Atc>Gtc	p.I58V	CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000278916.3_Missense_Mutation_p.I58V|CHEK1_ENST00000438015.1_Missense_Mutation_p.I58V|CHEK1_ENST00000524737.1_Missense_Mutation_p.I58V|CHEK1_ENST00000544373.1_Missense_Mutation_p.I58V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000428830.2_Missense_Mutation_p.I58V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	58	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	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;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AGAGATCTGTATCAATAAAAT	0.363								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(172-174)Atc>Gtc	Other conserved DNA damage response genes	checkpoint kinase 1							79	84	82					11																	125497608		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125497608A>G	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.172A>G	11.37:g.125497608A>G	ENSP00000435371:p.Ile58Val					CHEK1_ENST00000438015.1_Missense_Mutation_p.I58V|CHEK1_ENST00000428830.2_Missense_Mutation_p.I58V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000278916.3_Missense_Mutation_p.I58V|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.I58V|CHEK1_ENST00000544373.1_Missense_Mutation_p.I58V	p.I58V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	3	427	+	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)	58			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.172A>G	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388324	0.61956	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115692	0.56097	D	0.000031	T	0.61464	0.2349	L	0.42686	1.345	0.58432	D	0.999999	B;B;B	0.33807	0.372;0.426;0.426	B;B;B	0.42062	0.368;0.374;0.374	T	0.60616	-0.7228	10	0.36615	T	0.2	.	15.2606	0.73617	1.0:0.0:0.0:0.0	.	58;58;58	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	V	58	ENSP00000388648:I58V;ENSP00000434141:I58V;ENSP00000412504:I58V;ENSP00000442317:I58V;ENSP00000431525:I58V;ENSP00000431815:I58V;ENSP00000432470:I58V;ENSP00000435371:I58V;ENSP00000432890:I58V;ENSP00000278916:I58V	ENSP00000278916:I58V	I	+	1	0	CHEK1	125002818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.465000	0.60141	2.145000	0.66743	0.529000	0.55759	ATC		0.363	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		20	30	0	0	0	1	0	20	30					G	125497608	A	G	125497608	3	3	459	1	0	0	0	0	1	0	0	0	3334	449	16	3	178	3	CHEK1	11	125497608	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	8186970	125497608	9508908	53	38217											
GYS2	2998	broad.mit.edu	37	chr12	21713428	21713428	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcacttttatgcatcTgatgaggaattagaaaacac	8	6	2	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:21713428T>C	ENST00000261195.2	-	8	1317		c.e8-2			NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTATGCATCTGATGAGGAAT	0.328																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.e8-2		glycogen synthase 2 (liver)							131	122	125					12																	21713428		2203	4300	6503	SO:0001630	splice_region_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21713428T>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1063-2A>G	12.37:g.21713428T>C								NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			8	1317	-								A0AVD8	Splice_Site	SNP	ENST00000261195.2	37		CCDS8690.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831822	0.71258	.	.	ENSG00000111713	ENST00000261195	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.628	0.68635	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GYS2	21604695	1.000000	0.71417	0.983000	0.44433	0.832000	0.47134	7.854000	0.86942	2.046000	0.60703	0.460000	0.39030	.		0.328	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	Intron	40	56	0	0	0	1	0	40	56					C	21713428	T	C	21713428	5	2	459	1	0	0	0	0	0	0	1	0	6913	1594	55	3	1086	3	GYS2	12	21713428	Splice_Site	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		21713428	112138467	54	38218											
DNAH10	196385	broad.mit.edu	37	chr12	124288309	124288309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacatttcttccaggctgAcattaatagaggccataaat	7	8	1	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:124288309A>G	ENST00000409039.3	+	16	2387	c.2362A>G	c.(2362-2364)Aca>Gca	p.T788A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	788	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)			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)		TTCCAGGCTGACATTAATAGA	0.413																																						ENST00000409039.3																			0				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						c.(2362-2364)Aca>Gca		dynein, axonemal, heavy chain 10							78	74	75					12																	124288309		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124288309A>G	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.2362A>G	12.37:g.124288309A>G	ENSP00000386770:p.Thr788Ala						p.T788A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	16	2387	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		788			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2362A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	2.309	-0.358257	0.05138	.	.	ENSG00000197653	ENST00000409039	T	0.20463	2.07	5.0	-3.42	0.04825	.	0.566328	0.15824	N	0.242846	T	0.06325	0.0163	N	0.10874	0.06	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.33033	-0.9884	10	0.11794	T	0.64	.	1.3475	0.02166	0.2064:0.1146:0.3109:0.368	.	788;663;788	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	A	788	ENSP00000386770:T788A	ENSP00000386770:T788A	T	+	1	0	DNAH10	122854262	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.131000	0.15870	-0.208000	0.10171	-1.258000	0.01471	ACA		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			20	66	0	0	0	1	0	20	66					G	124288309	A	G	124288309	3	3	459	1	0	0	0	0	1	0	0	0	4598	275	10	3	2424	3	DNAH10	12	124288309	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	102574881	124288309	9563586	55	38219											
FLT3	2322	broad.mit.edu	37	chr13	28636085	28636085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatgttccctggggcgTcgaccagcacttgcagtgtg	14	10	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr13:28636085T>C	ENST00000241453.7	-	3	368	c.287A>G	c.(286-288)gAc>gGc	p.D96G	FLT3_ENST00000537084.1_Missense_Mutation_p.D96G|FLT3_ENST00000380982.4_Missense_Mutation_p.D96G	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	96					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTGGGGCGTCGACCAGCAC	0.522			"Mis, O"		"AML, ALL"																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"Mis, O"	fms-related tyrosine kinase 3			L			"AML, ALL"		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(286-288)gAc>gGc		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						115	103	107					13																	28636085		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636085T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.287A>G	13.37:g.28636085T>C	ENSP00000241453:p.Asp96Gly					FLT3_ENST00000537084.1_Missense_Mutation_p.D96G|FLT3_ENST00000241453.7_Missense_Mutation_p.D96G	p.D96G			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	368	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	96					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.287A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	8.204	0.798720	0.16397	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.42900	0.96;0.96;0.96	5.72	-5.76	0.02376	.	1.474310	0.03617	N	0.235706	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18053	-1.0349	10	0.25106	T	0.35	.	10.2064	0.43116	0.0:0.4475:0.356:0.1965	.	96;96	P36888-2;P36888	.;FLT3_HUMAN	G	96	ENSP00000241453:D96G;ENSP00000370369:D96G;ENSP00000438139:D96G	ENSP00000241453:D96G	D	-	2	0	FLT3	27534085	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.532000	0.06164	-1.045000	0.03250	0.416000	0.27883	GAC		0.522	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			4	21	0	0	0	1	0	4	21					C	28636085	T	C	28636085	3	2	459	1	0	0	0	0	1	0	0	0	5942	1667	58	3	2782	3	FLT3	13	28636085	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		28636085	86533793	56	38220											
ADAM20	8748	broad.mit.edu	37	chr14	70990039	70990039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgatgggatgtcccaTtgcaccactctggaaggtca	12	10	2	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:70990039T>C	ENST00000256389.3	-	2	1830	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	479	Cys-rich.				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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGATGTCCCATTGCACCACTC	0.433																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1585-1587)aAt>aGt		ADAM metallopeptidase domain 20							164	135	145					14																	70990039		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990039T>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1586A>G	14.37:g.70990039T>C	ENSP00000256389:p.Asn529Ser					RP11-486O13.4_ENST00000556646.1_lincRNA	p.N529S	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1830	-			479			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1586A>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552762	0.65425	.	.	ENSG00000134007	ENST00000256389	T	0.12039	2.72	4.45	0.584	0.17422	Blood coagulation inhibitor, Disintegrin (6);	0.422898	0.16709	U	0.202792	T	0.19805	0.0476	M	0.63428	1.95	0.21386	N	0.999704	P	0.41313	0.745	P	0.49387	0.609	T	0.08700	-1.0709	10	0.56958	D	0.05	.	5.7414	0.18096	0.0:0.1555:0.1425:0.702	.	479	O43506	ADA20_HUMAN	S	529	ENSP00000256389:N529S	ENSP00000256389:N529S	N	-	2	0	ADAM20	70059792	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	0.567000	0.23608	-0.078000	0.12730	0.455000	0.32223	AAT		0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			53	69	0	0	0	1	0	53	69					C	70990039	T	C	70990039	3	2	459	1	0	0	0	0	1	0	0	0	242	1493	52	3	748	3	ADAM20	14	70990039	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		70990039	36359501	57	38221											
TMEM90A	646658	broad.mit.edu	37	chr14	74876137	74876137	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaggtcctgtgggcTgctctggaggcccctcctgg	15	14	1	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:74876137T>A	ENST00000554823.1	-	1	372	c.311A>T	c.(310-312)cAg>cTg	p.Q104L	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.Q104L			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	104					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TCCTGTGGGCTGCTCTGGAGG	0.617																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(310-312)cAg>cTg		synapse differentiation inducing 1-like							57	61	60					14																	74876137		1985	4166	6151	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876137T>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.311A>T	14.37:g.74876137T>A	ENSP00000450439:p.Gln104Leu					SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.Q104L	p.Q104L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			2	558	-			104						Missense_Mutation	SNP	ENST00000554823.1	37	c.311A>T	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	T	0.311	-0.967865	0.02232	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95342	-3.68;-3.68	4.63	0.16	0.14972	.	0.860782	0.10425	N	0.676190	D	0.83608	0.5291	N	0.03608	-0.345	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.71199	-0.4663	10	0.18710	T	0.47	-7.8586	8.6566	0.34066	0.0:0.2946:0.0:0.7054	.	104	A6NDD5	SYN1L_HUMAN	L	104	ENSP00000331474:Q104L;ENSP00000450439:Q104L	ENSP00000331474:Q104L	Q	-	2	0	SYNDIG1L	73945890	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.332000	0.07904	0.096000	0.17463	0.383000	0.25322	CAG		0.617	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		33	56	0	0	0	1	0	33	56					A	74876137	T	A	74876137	3	1	459	1	0	0	0	0	1	0	0	0	16215	1580	55	5	417	5	TMEM90A	14	74876137	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	3886098	74876137	32473403	58	38222											
DYNC1H1	1778	broad.mit.edu	37	chr14	102431051	102431051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcggagcccgggggcggcgGcggcgaggacggctcggccg	23	13	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:102431051G>C	ENST00000360184.4	+	1	187	c.23G>C	c.(22-24)gGc>gCc	p.G8A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	8					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						GGGGGCGGCGGCGGCGAGGAC	0.682																																						ENST00000360184.4																			0				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						c.(22-24)gGc>gCc		dynein, cytoplasmic 1, heavy chain 1							6	8	8					14																	102431051		1934	3972	5906	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102431051G>C	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.23G>C	14.37:g.102431051G>C	ENSP00000348965:p.Gly8Ala						p.G8A	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			1	187	+			8					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.23G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405524	0.96051	.	.	ENSG00000197102	ENST00000360184	T	0.27557	1.66	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.14661	0.345	0.58432	D	0.999997	D	0.67145	0.996	D	0.73708	0.981	T	0.36817	-0.9732	10	0.45353	T	0.12	.	15.2926	0.73879	0.0:0.0:1.0:0.0	.	8	Q14204	DYHC1_HUMAN	A	8	ENSP00000348965:G8A	ENSP00000348965:G8A	G	+	2	0	DYNC1H1	101500804	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.628000	0.74262	1.652000	0.50683	0.561000	0.74099	GGC		0.682	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	16	0	0	0	1	0	4	16					C	102431051	G	C	102431051	3	2	459	1	0	0	0	0	1	0	0	0	4841	1203	42	4	25	4	DYNC1H1	14	102431051	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	27554914	102431051	4918489	59	38223											
ACSM2A	123876	broad.mit.edu	37	chr16	20476907	20476907	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggaattaatgtggaaTttcagagaactgagtgaaaa	13	2	1	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20476907T>G	ENST00000573854.1	+	3	360	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000424070.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N82K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N82K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N3K|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	82					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAATGTGGAATTTCAGAGAAC	0.597																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(244-246)aaT>aaG		acyl-CoA synthetase medium-chain family member 2A							85	81	82					16																	20476907		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476907T>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.246T>G	16.37:g.20476907T>G	ENSP00000459451:p.Asn82Lys					ACSM2A_ENST00000417235.2_Missense_Mutation_p.N3K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N82K|ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N82K	p.N82K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	360	+			82					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.246T>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873130	0.51695	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.76	0.165	0.14995	.	0.288637	0.24620	N	0.036969	T	0.48484	0.1502	L	0.46157	1.445	0.27590	N	0.949292	D;D	0.63046	0.983;0.992	P;P	0.54346	0.749;0.749	T	0.46148	-0.9212	10	0.87932	D	0	-17.7799	9.1018	0.36673	0.0:0.7132:0.0:0.2868	.	3;82	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	3;82;82;82	ENSP00000392169:N3K;ENSP00000219054:N82K;ENSP00000394904:N82K;ENSP00000379411:N82K	ENSP00000219054:N82K	N	+	3	2	ACSM2A	20384408	1.000000	0.71417	0.787000	0.31911	0.039000	0.13416	1.861000	0.39438	0.189000	0.20188	-0.782000	0.03352	AAT		0.597	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	44	0	0	0	1	0	4	44					G	20476907	T	G	20476907	3	3	459	1	0	0	0	0	1	0	0	0	183	1490	52	5	252	5	ACSM2A	16	20476907	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		20476907	69877846	60	38224											
ACSM2B	348158	broad.mit.edu	37	chr16	20570701	20570701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcactcagttctctgaaAttccacattaattccttccc	2	13	3	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20570701A>C	ENST00000329697.6	-	3	414	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2B_ENST00000414188.2_Missense_Mutation_p.N82K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.N3K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	82					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTCTCTGAAATTCCACATTA	0.577																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(244-246)aaT>aaG		acyl-CoA synthetase medium-chain family member 2B							46	40	42					16																	20570701		2200	4285	6485	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570701A>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.246T>G	16.37:g.20570701A>C	ENSP00000327453:p.Asn82Lys					ACSM2B_ENST00000565322.1_Missense_Mutation_p.N3K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000414188.2_Missense_Mutation_p.N82K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N82K	p.N82K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	414	-			82					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.246T>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937898	0.34189	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.49720	0.77;0.77	3.51	0.191	0.15130	.	0.288637	0.24620	N	0.036969	T	0.47985	0.1475	L	0.46157	1.445	0.25186	N	0.990161	D;D	0.63046	0.992;0.992	P;P	0.54346	0.749;0.749	T	0.41645	-0.9497	10	0.87932	D	0	-17.7799	8.2509	0.31717	0.3001:0.0:0.6999:0.0	.	82;82	A8K051;Q68CK6	.;ACS2B_HUMAN	K	82	ENSP00000327453:N82K;ENSP00000390378:N82K	ENSP00000327453:N82K	N	-	3	2	ACSM2B	20478202	1.000000	0.71417	0.782000	0.31804	0.032000	0.12392	1.666000	0.37460	0.178000	0.19917	-0.231000	0.12243	AAT		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		9	10	0	0	0	1	0	9	10					C	20570701	A	C	20570701	3	2	459	1	0	0	0	0	1	0	0	0	184	98	4	5	1535	5	ACSM2B	16	20570701	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	93794	20570701	69784052	61	38225											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871683	20871683	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttgcagccatcaaaaAactccttcctgcaacagaaa	5	12	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20871683A>C	ENST00000324344.4	-	3	725	c.440T>G	c.(439-441)tTt>tGt	p.F147C	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F147C|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	147	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GCCATCAAAAAACTCCTTCCT	0.393																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(439-441)tTt>tGt		DCN1, defective in cullin neddylation 1, domain containing 3							45	47	46					16																	20871683		2196	4297	6493	SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871683A>C	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.440T>G	16.37:g.20871683A>C	ENSP00000319482:p.Phe147Cys					DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F147C|ERI2_ENST00000564349.1_Intron	p.F147C	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	725	-			147			DCUN1.		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	c.440T>G	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012233	0.75046	.	.	ENSG00000188215	ENST00000324344	D	0.94280	-3.39	5.92	5.92	0.95590	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98438	1.0585	10	0.66056	D	0.02	-11.41	16.3662	0.83325	1.0:0.0:0.0:0.0	.	147	Q8IWE4	DCNL3_HUMAN	C	147	ENSP00000319482:F147C	ENSP00000319482:F147C	F	-	2	0	DCUN1D3	20779184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.274000	0.75844	0.533000	0.62120	TTT		0.393	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		17	27	0	0	0	1	0	17	27					C	20871683	A	C	20871683	3	2	459	1	0	0	0	0	1	0	0	0	4315	14	1	5	478	5	DCUN1D3	16	20871683	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	300982	20871683	69483070	62	38226											
TP53	7157	broad.mit.edu	37	chr17	7577049	7577049	+	Frame_Shift_Del	DEL	G	G	-													gctccctgggggcagctcgtGgtgaggctcccctttcttgc							TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577049delG	ENST00000269305.4	-	8	1078	c.889delC	c.(889-891)cacfs	p.H297fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.H297fs	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	297	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.K291fs*48(8)|p.0?(8)|p.H297Y(5)|p.?(2)|p.H297N(1)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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)	GGCAGCTCGTGGTGAGGCTCC	0.562		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		27	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(6)|Unknown(2)|Deletion - In frame(2)	p.K291fs*48(8)|p.0?(8)|p.H297Y(5)|p.?(2)|p.H297N(1)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(1)	upper_aerodigestive_tract(7)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(2)|lung(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|urinary_tract(1)|breast(1)|skin(1)|eye(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						c.(889-891)acfs	Other conserved DNA damage response genes	tumor protein p53							110	96	100					17																	7577049		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577049delG	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.889delC	17.37:g.7577049delG	ENSP00000269305:p.His297fs	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)				TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs	p.H297fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1021	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	297		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.889delC	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	28						19	28	---	---	---	---	-	7577049	G	-	7577049	7	5	459	1	0	1	0	1	0	0	0	0	16378	1348	47	0	397	0	TP53	17	7577049	Frame_Shift_Del	DEL	G	TCGA-S9-A89Z-01A-11D-A36O-08		7577049	73618161	63	38227											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	11	0	0	0	1	0	7	11					T	7577120	C	T	7577120	3	4	459	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	71	7577120	73618090	64	38228											
DHRS7C	201140	broad.mit.edu	37	chr17	9683322	9683322	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacacagctgatgtctgagaGgtccaacaggaccagctttg	12	10	1	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:9683322G>C	ENST00000330255.5	-	3	313	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.L100V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	101					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATGTCTGAGAGGTCCAACAGG	0.527																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(301-303)Ctc>Gtc		dehydrogenase/reductase (SDR family) member 7C							70	70	70					17																	9683322		2039	4200	6239	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9683322G>C		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.301C>G	17.37:g.9683322G>C	ENSP00000327975:p.Leu101Val					DHRS7C_ENST00000571134.1_Missense_Mutation_p.L100V	p.L101V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			3	313	-			101					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.301C>G	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976316	0.34848	.	.	ENSG00000184544	ENST00000330255	D	0.84730	-1.89	5.48	1.84	0.25277	NAD(P)-binding domain (1);	0.244894	0.42682	D	0.000676	T	0.72087	0.3417	N	0.20574	0.59	0.30628	N	0.757815	B;B	0.31209	0.243;0.313	B;B	0.36719	0.118;0.231	T	0.64132	-0.6479	10	0.33141	T	0.24	.	4.4327	0.11535	0.3064:0.0:0.5458:0.1478	.	101;97	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	101	ENSP00000327975:L101V	ENSP00000327975:L101V	L	-	1	0	DHRS7C	9624047	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	1.569000	0.36428	0.100000	0.17581	-0.345000	0.07892	CTC		0.527	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		7	20	0	0	0	1	0	7	20					C	9683322	G	C	9683322	3	2	459	1	0	0	0	0	1	0	0	0	4497	1000	35	4	653	4	DHRS7C	17	9683322	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	2106202	9683322	71511888	65	38229											
DNAH17	8632	broad.mit.edu	37	chr17	76497400	76497400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgccggagctgggcctgCcaggtgaaggcctgagaact	16	11	0	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:76497400C>T	ENST00000585328.1	-	35	5458	c.5334G>A	c.(5332-5334)tgG>tgA	p.W1778*	DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.W1769*	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1769	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGGGCCTGCCAGGTGAAGG	0.567																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5305-5307)tgG>tgA		dynein, axonemal, heavy chain 17							59	63	62					17																	76497400		2100	4250	6350	SO:0001587	stop_gained	8632							g.chr17:76497400C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5334G>A	17.37:g.76497400C>T	ENSP00000465516:p.Trp1778*					DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1778*|DNAH17-AS1_ENST00000598378.1_3'UTR	p.W1769*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		35	5431	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.5307G>A		.	.	.	.	.	.	.	.	.	.	C	47	13.653659	0.99755	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.995	0.86365	0.0:1.0:0.0:0.0	.	.	.	.	X	1778;1769	.	ENSP00000300671:W1778X	W	-	3	0	DNAH17	74008995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.567000	0.82357	2.067000	0.61834	0.448000	0.29417	TGG		0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	24	0	0	0	1	0	15	24					T	76497400	C	T	76497400	4	4	459	1	0	0	0	0	0	1	0	0	4601	740	26	2	8227	2	DNAH17	17	76497400	Nonsense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	66814078	76497400	4697810	66	38230											
DSG4	147409	broad.mit.edu	37	chr18	28986302	28986302	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggaccagcagggatTggcatgatggttctgggcat	16	7	2	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr18:28986302T>A	ENST00000308128.4	+	12	2034	c.1899T>A	c.(1897-1899)atT>atA	p.I633I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.I633I	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	633					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)			CAGCAGGGATTGGCATGATGG	0.473																																						ENST00000359747.4																			0				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						c.(1897-1899)atT>atA		desmoglein 4							98	97	97					18																	28986302		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986302T>A	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.1899T>A	18.37:g.28986302T>A						RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.I633I	p.I633I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1928	+			633					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1899T>A	CCDS11897.1																																																																																				0.473	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		42	113	0	0	0	1	0	42	113					A	28986302	T	A	28986302	2	1	459	1	0	0	0	0	0	0	0	1	4779	1800	63	5		5	DSG4	18	28986302	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		28986302	49090946	67	38231											
MUC16	94025	broad.mit.edu	37	chr19	9088171	9088171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaagggaaccagggtgCtttttcctatggcaccactt	10	11	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:9088171C>A	ENST00000397910.4	-	1	3847	c.3644G>T	c.(3643-3645)aGc>aTc	p.S1215I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1215	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						AACCAGGGTGCTTTTTCCTAT	0.493																																						ENST00000397910.4																			0				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						c.(3643-3645)aGc>aTc		mucin 16, cell surface associated							232	225	228					19																	9088171		2069	4218	6287	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088171C>A	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.3644G>T	19.37:g.9088171C>A	ENSP00000381008:p.Ser1215Ile						p.S1215I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3847	-			1215			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3644G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.618	-0.522126	0.04171	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.38	-1.18	0.09617	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	.	.	.	B	0.30664	0.289	B	0.23716	0.048	T	0.44574	-0.9319	8	0.87932	D	0	.	4.1101	0.10055	0.0:0.5509:0.0:0.4491	.	1215	B5ME49	.	I	1215	ENSP00000381008:S1215I	ENSP00000381008:S1215I	S	-	2	0	MUC16	8949171	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.901000	0.04093	-0.265000	0.09352	0.305000	0.20034	AGC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		77	133	1	0	8.07507e-42	1	9.00681e-42	77	133					A	9088171	C	A	9088171	3	1	459	1	0	0	0	0	1	0	0	0	9973	797	28	4	40215	4	MUC16	19	9088171	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		9088171	50040812	68	38232											
OR10H2	26538	broad.mit.edu	37	chr19	15839146	15839146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgccttcctggcctgtgCcagtcagatgttcttctcct	8	15	3	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:15839146C>T	ENST00000305899.3	+	1	313	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A98D(1)		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)					CTGGCCTGTGCCAGTCAGATG	0.632																																						ENST00000305899.3																			1	Substitution - Missense(1)	p.A98D(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(292-294)gCc>gTc		olfactory receptor, family 10, subfamily H, member 2							62	57	59					19																	15839146		2202	4278	6480	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839146C>T	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.293C>T	19.37:g.15839146C>T	ENSP00000306095:p.Ala98Val						p.A98V	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	313	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		98					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.293C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	15.40	2.822146	0.50739	.	.	ENSG00000171942	ENST00000305899	T	0.18960	2.18	3.4	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.132610	0.34067	N	0.004282	T	0.15955	0.0384	L	0.35723	1.085	0.28149	N	0.929471	B	0.21309	0.054	B	0.31337	0.128	T	0.11060	-1.0603	10	0.54805	T	0.06	.	4.7472	0.13043	0.0:0.7195:0.0:0.2805	.	98	O60403	O10H2_HUMAN	V	98	ENSP00000306095:A98V	ENSP00000306095:A98V	A	+	2	0	OR10H2	15700146	0.000000	0.05858	0.996000	0.52242	0.941000	0.58515	0.272000	0.18644	1.446000	0.47643	0.537000	0.68136	GCC		0.632	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			15	41	0	0	0	1	0	15	41					T	15839146	C	T	15839146	3	4	459	1	0	0	0	0	1	0	0	0	10906	739	26	2	295	2	OR10H2	19	15839146	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	6750975	15839146	43289837	69	38233											
HPN	3249	broad.mit.edu	37	chr19	35556561	35556561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctgtgctggctacccCgagggtggcattgatgcctg	14	10	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:35556561C>T	ENST00000262626.2	+	11	1851	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	HPN_ENST00000392226.1_Silent_p.P342P|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.P184P	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	342	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGGCTACCCCGAGGGTGGCA	0.597																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1024-1026)ccC>ccT		hepsin	Coagulation factor VIIa(DB00036)						67	67	67					19																	35556561		2203	4300	6503	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556561C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1026C>T	19.37:g.35556561C>T						HPN_ENST00000597419.1_Silent_p.P184P|HPN_ENST00000392226.1_Silent_p.P342P|HPN-AS1_ENST00000392227.2_RNA	p.P342P	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		11	1851	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		342			Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.1026C>T	CCDS32993.1																																																																																				0.597	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		27	44	0	0	0	1	0	27	44					T	35556561	C	T	35556561	2	4	459	1	0	0	0	0	0	0	0	1	7336	639	23	1		1	HPN	19	35556561	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	19717415	35556561	23572422	70	38234											
SHKBP1	92799	broad.mit.edu	37	chr19	41096689	41096689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaacactgtgagctgGccccgccggctccttcagct	12	15	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:41096689G>A	ENST00000291842.5	+	17	1871	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	SHKBP1_ENST00000600733.1_Missense_Mutation_p.A583T|LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	608					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)			CTGTGAGCTGGCCCCGCCGGC	0.657																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1822-1824)Gcc>Acc		SH3KBP1 binding protein 1							52	62	59					19																	41096689		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096689G>A	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.1822G>A	19.37:g.41096689G>A	ENSP00000291842:p.Ala608Thr					SHKBP1_ENST00000600733.1_Missense_Mutation_p.A583T	p.A608T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1871	+			608					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1822G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236431	0.22711	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.45276	0.9	4.82	1.47	0.22746	.	0.376455	0.22906	N	0.054198	T	0.26011	0.0634	N	0.17474	0.49	0.28511	N	0.913568	B;B;B;B;B	0.29037	0.002;0.231;0.0;0.025;0.0	B;B;B;B;B	0.33042	0.007;0.157;0.001;0.039;0.001	T	0.17349	-1.0372	10	0.49607	T	0.09	-0.1966	7.9394	0.29950	0.2858:0.0:0.7142:0.0	.	486;388;445;608;608	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	T	608;388	ENSP00000291842:A608T	ENSP00000291842:A608T	A	+	1	0	SHKBP1	45788529	0.892000	0.30473	0.222000	0.23844	0.004000	0.04260	1.477000	0.35431	0.184000	0.20083	-0.258000	0.10820	GCC		0.657	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		34	38	0	0	0	1	0	34	38					A	41096689	G	A	41096689	3	1	459	1	0	0	0	0	1	0	0	0	14284	1203	42	2	1888	2	SHKBP1	19	41096689	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	5540128	41096689	18032294	71	38235											
PTPRH	5794	broad.mit.edu	37	chr19	55716930	55716930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgttggtctgagccTccactctcaggttcctcact	10	13	3	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:55716930T>C	ENST00000376350.3	-	4	405	c.383A>G	c.(382-384)gAg>gGg	p.E128G	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	128	Fibronectin type-III 2. {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)		GGTCTGAGCCTCCACTCTCAG	0.572																																						ENST00000376350.3																			0				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						c.(382-384)gAg>gGg		protein tyrosine phosphatase, receptor type, H							92	75	80					19																	55716930		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55716930T>C		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.383A>G	19.37:g.55716930T>C	ENSP00000365528:p.Glu128Gly					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	p.E128G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	4	405	-		Renal(1328;0.245)	128			Fibronectin type-III 2.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.383A>G	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	7.525	0.657577	0.14645	.	.	ENSG00000080031	ENST00000376350	T	0.58506	0.33	3.73	-0.231	0.13086	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.042410	0.07729	N	0.944865	T	0.48409	0.1498	L	0.55481	1.735	0.09310	N	1	P	0.37914	0.611	B	0.37198	0.243	T	0.34551	-0.9824	10	0.25106	T	0.35	.	6.7099	0.23272	0.5962:0.0:0.0:0.4038	.	128	Q9HD43	PTPRH_HUMAN	G	128	ENSP00000365528:E128G	ENSP00000365528:E128G	E	-	2	0	PTPRH	60408742	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.231000	0.09069	0.080000	0.16959	0.329000	0.21502	GAG		0.572	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			16	32	0	0	0	1	0	16	32					C	55716930	T	C	55716930	3	2	459	1	0	0	0	0	1	0	0	0	12803	1551	54	3	3032	3	PTPRH	19	55716930	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	14620241	55716930	3412053	72	38236											
C20orf144	128864	broad.mit.edu	37	chr20	32251489	32251489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcgagcgcgagccgaggaTgccggtactgctgctgctgc	16	12	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:32251489T>C	ENST00000375222.3	+	2	340	c.278T>C	c.(277-279)aTg>aCg	p.M93T	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000606525.1_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	93										lung(1)	1						GAGCCGAGGATGCCGGTACTG	0.746																																						ENST00000375222.3																			0				lung(1)	1						c.(277-279)aTg>aCg		chromosome 20 open reading frame 144							4	5	5					20																	32251489		1636	3412	5048	SO:0001583	missense	128864							g.chr20:32251489T>C	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"bcl-2-like protein from testis"					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.278T>C	20.37:g.32251489T>C	ENSP00000364370:p.Met93Thr					NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	p.M93T	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN			2	340	+			93					Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	c.278T>C	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	T	9.909	1.208884	0.22205	.	.	ENSG00000149609	ENST00000375222	T	0.44881	0.91	3.8	3.8	0.43715	.	1.612490	0.03518	N	0.220586	T	0.30541	0.0768	N	0.14661	0.345	0.20196	N	0.999926	B	0.22080	0.064	B	0.21360	0.034	T	0.14615	-1.0466	10	0.35671	T	0.21	0.0342	9.1227	0.36797	0.0:0.0:0.0:1.0	.	93	Q9BQM9	CT144_HUMAN	T	93	ENSP00000364370:M93T	ENSP00000364370:M93T	M	+	2	0	C20orf144	31715150	0.900000	0.30661	0.086000	0.20670	0.028000	0.11728	2.109000	0.41863	1.722000	0.51474	0.329000	0.21502	ATG		0.746	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		3	2	0	0	0	1	0	3	2					C	32251489	T	C	32251489	3	2	459	1	0	0	0	0	1	0	0	0	2090	1464	51	3	284	3	C20orf144	20	32251489	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		32251489	30774031	73	38237											
HNF4A	3172	broad.mit.edu	37	chr20	43052756	43052756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaccgccagtatgactcgCgtggccgctttggagagctg	14	12	0	2	rs193922479		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:43052756C>T	ENST00000316099.4	+	8	1080	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C|HNF4A_ENST00000609795.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.2_Missense_Mutation_p.R331C|HNF4A_ENST00000316673.4_Missense_Mutation_p.R309C|AL132772.1_ENST00000581483.1_RNA	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	331					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R331G(2)|p.R309G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTATGACTCGCGTGGCCGCTT	0.592																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			3	Substitution - Missense(3)	p.R331G(2)|p.R309G(1)	endometrium(3)	endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34	GRCh37	CM064051	HNF4A	M		c.(991-993)Cgt>Tgt		hepatocyte nuclear factor 4, alpha							35	25	28					20																	43052756		2200	4291	6491	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43052756C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.991C>T	20.37:g.43052756C>T	ENSP00000312987:p.Arg331Cys					HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.1_Missense_Mutation_p.R331C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C	p.R331C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1080	+		Myeloproliferative disorder(115;0.0122)	331					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.991C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817901	0.50633	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.242500	0.42420	D	0.000710	D	0.96725	0.8931	M	0.83852	2.665	0.80722	D	1	P;P;P;P;P;P;B	0.51147	0.942;0.672;0.672;0.865;0.942;0.783;0.265	P;B;B;B;P;B;B	0.49047	0.599;0.274;0.274;0.317;0.599;0.237;0.072	D	0.96573	0.9424	10	0.56958	D	0.05	.	12.7998	0.57580	0.2863:0.7137:0.0:0.0	.	324;331;331;331;309;309;309	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	C	309;309;331;331;361;331	ENSP00000315180:R309C;ENSP00000396216:R309C;ENSP00000312987:R331C;ENSP00000410911:R331C;ENSP00000412111:R331C	ENSP00000312987:R331C	R	+	1	0	HNF4A	42486170	0.998000	0.40836	0.113000	0.21522	0.659000	0.38960	3.757000	0.55212	2.515000	0.84797	0.563000	0.77884	CGT		0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			7	10	0	0	0	1	0	7	10					T	43052756	C	T	43052756	3	4	459	1	0	0	0	0	1	0	0	0	7253	768	27	1	1074	1	HNF4A	20	43052756	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	10801267	43052756	19972764	74	38238											
C21orf33	8209	broad.mit.edu	37	chr21	45553593	45553593	+	Frame_Shift_Del	DEL	G	G	-													caccgcaatggcggctgtgaGggtcctggtggcctcgaggc							TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr21:45553593delG	ENST00000291577.6	+	1	107	c.14delG	c.(13-15)aggfs	p.R5fs	C21orf33_ENST00000348499.5_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	5						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GCGGCTGTGAGGGTCCTGGTG	0.687																																						ENST00000291577.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(13-15)agfs		chromosome 21 open reading frame 33							27	22	24					21																	45553593		2199	4292	6491	SO:0001589	frameshift_variant	8209					mitochondrion		g.chr21:45553593delG	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.14delG	21.37:g.45553593delG	ENSP00000291577:p.Arg5fs					C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.R5fs	p.R5fs	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	1	107	+			5					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Frame_Shift_Del	DEL	ENST00000291577.6	37	c.14delG	CCDS33580.1																																																																																				0.687	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		2	4						2	4	---	---	---	---	-	45553593	G	-	45553593	7	5	459	1	0	1	0	1	0	0	0	0	2125	1000	35	0	16	0	C21orf33	21	45553593	Frame_Shift_Del	DEL	G	TCGA-S9-A89Z-01A-11D-A36O-08		45553593	2576302	75	38239											
EDA2R	60401	broad.mit.edu	37	chrX	65835830	65835830	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacacaccgtccccaTtggtcccagtactcattttc	7	15	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chrX:65835830T>C	ENST00000374719.3	-	2	89	c.33A>G	c.(31-33)caA>caG	p.Q11Q	EDA2R_ENST00000450752.1_Silent_p.Q11Q|EDA2R_ENST00000456230.2_Silent_p.Q11Q|EDA2R_ENST00000396050.1_Silent_p.Q11Q|EDA2R_ENST00000253392.5_Silent_p.Q11Q|EDA2R_ENST00000451436.2_Missense_Mutation_p.N6S	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	11					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACCGTCCCCATTGGTCCCAGT	0.483																																						ENST00000451436.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(16-18)aAt>aGt		ectodysplasin A2 receptor							138	103	115					X																	65835830		2203	4300	6503	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65835830T>C	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.33A>G	X.37:g.65835830T>C						EDA2R_ENST00000396050.1_Silent_p.Q11Q|EDA2R_ENST00000456230.2_Silent_p.Q11Q|EDA2R_ENST00000374719.3_Silent_p.Q11Q|EDA2R_ENST00000450752.1_Silent_p.Q11Q|EDA2R_ENST00000253392.5_Silent_p.Q11Q	p.N6S			Q9HAV5	TNR27_HUMAN			2	98	-			0					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.17A>G	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	T	7.274	0.607697	0.14002	.	.	ENSG00000131080	ENST00000451436	.	.	.	4.56	0.883	0.19177	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.21220	N	0.999752	P	0.35745	0.518	B	0.33392	0.163	T	0.15867	-1.0422	7	0.87932	D	0	.	5.928	0.19122	0.0:0.5453:0.0:0.4547	.	6	E7EUS4	.	S	6	.	ENSP00000415242:N6S	N	-	2	0	EDA2R	65752555	1.000000	0.71417	0.991000	0.47740	0.833000	0.47200	0.642000	0.24735	0.049000	0.15920	-0.323000	0.08544	AAT		0.483	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		14	4	0	0	0	1	0	14	4					C	65835830	T	C	65835830	2	2	459	1	0	0	0	0	0	0	0	1	4904	1490	52	3		3	EDA2R	23	65835830	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		65835830	89434730	76	38240											
MKNK1	8569	broad.mit.edu	37	chr1	47024399	47024399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgctagttcgttctcttCgtgctgagatagctggcggt	12	10	2	1	rs147526106		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:47024399C>T	ENST00000371946.4	-	14	1409	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000428112.2_3'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	416					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCGTTCTCTTCGTGCTGAGAT	0.602																																						ENST00000371946.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13						c.(1246-1248)Gaa>Aaa		MAP kinase interacting serine/threonine kinase 1		C	LYS/GLU,LYS/GLU,	0,4406		0,0,2203	79	78	78		1123,1246,	5.5	1	1	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	MKNK1	NM_001135553.1,NM_003684.4,NM_198973.2	56,56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,	375/425,416/466,	47024399	1,13005	2203	4300	6503	SO:0001583	missense	8569				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:47024399C>T	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1246G>A	1.37:g.47024399C>T	ENSP00000361014:p.Glu416Lys					MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000428112.2_3'UTR|MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K	p.E416K	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN			14	1409	-	Acute lymphoblastic leukemia(166;0.155)		416					D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	SNP	ENST00000371946.4	37	c.1246G>A	CCDS538.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188382	0.78789	0.0	1.16E-4	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944	T;T;T	0.70749	-0.12;-0.51;0.15	5.47	5.47	0.80525	.	0.152167	0.64402	D	0.000017	T	0.77598	0.4154	M	0.71581	2.175	0.80722	D	1	D;D;D	0.64830	0.967;0.994;0.982	B;P;P	0.50860	0.288;0.646;0.652	T	0.77332	-0.2627	10	0.37606	T	0.19	-44.0105	18.3144	0.90215	0.0:1.0:0.0:0.0	.	280;375;416	Q7Z319;Q9BUB5-2;Q9BUB5	.;.;MKNK1_HUMAN	K	416;375;280	ENSP00000361014:E416K;ENSP00000361013:E375K;ENSP00000361012:E280K	ENSP00000361012:E280K	E	-	1	0	MKNK1	46796986	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	7.818000	0.86416	2.556000	0.86216	0.561000	0.74099	GAA		0.602	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684		10	55	0	0	0	1	0	10	55					T	47024399	C	T	47024399	3	4	460	1	0	0	0	0	1	0	0	0	9604	893	31	1	155	1	MKNK1	1	47024399	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		47024399	202226222	1	38241											
RAVER2	55225	broad.mit.edu	37	chr1	65273098	65273098	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttgctgctggaagcttgCtggtgggacaccataagcag	13	10	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:65273098C>G	ENST00000294428.3	+	9	1699	c.1621C>G	c.(1621-1623)Ctg>Gtg	p.L541V	RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	541						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGAAGCTTGCTGGTGGGACA	0.493																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1621-1623)Ctg>Gtg		ribonucleoprotein, PTB-binding 2							41	44	43					1																	65273098		1897	4122	6019	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65273098C>G	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1621C>G	1.37:g.65273098C>G	ENSP00000294428:p.Leu541Val					RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron	p.L541V			Q9HCJ3	RAVR2_HUMAN			9	1699	+			541					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1621C>G		.	.	.	.	.	.	.	.	.	.	C	0.185	-1.058493	0.01950	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.33654	1.42;1.4	5.32	2.04	0.26737	.	1.043170	0.07514	N	0.909396	T	0.19287	0.0463	L	0.58101	1.795	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.43523	-0.9386	10	0.54805	T	0.06	.	11.8111	0.52183	0.1135:0.5192:0.3673:0.0	.	528	Q9HCJ3-2	.	V	528;541	ENSP00000360112:L528V;ENSP00000294428:L541V	ENSP00000294428:L541V	L	+	1	2	RAVER2	65045686	0.018000	0.18449	0.012000	0.15200	0.035000	0.12851	0.160000	0.16462	0.583000	0.29574	-0.196000	0.12772	CTG		0.493	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		4	34	0	0	0	1	0	4	34					G	65273098	C	G	65273098	3	3	460	1	0	0	0	0	1	0	0	0	13095	796	28	4	1616	4	RAVER2	1	65273098	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	18248699	65273098	183977523	2	38242											
C1orf173	127254	broad.mit.edu	37	chr1	75038691	75038691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcatttgcaagcactgcCttctctaaaccctgttcccc	5	16	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:75038691C>T	ENST00000326665.5	-	14	2921	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		901	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						CAAGCACTGCCTTCTCTAAAC	0.527																																						ENST00000326665.5																			0				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						c.(2701-2703)aaG>aaA		chromosome 1 open reading frame 173							246	242	243					1																	75038691		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038691C>T																												ENST00000326665.5:c.2703G>A	1.37:g.75038691C>T						C1orf173_ENST00000433746.2_5'UTR	p.K901K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2921	-			901			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2703G>A	CCDS30755.1																																																																																				0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	214	0	0	0	1	0	7	214					T	75038691	C	T	75038691	2	4	460	1	0	0	0	0	0	0	0	1	2014	680	24	2		2	C1orf173	1	75038691	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	9765593	75038691	174211930	3	38243											
FLG	2312	broad.mit.edu	37	chr1	152281402	152281402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgacgcagcctgtccaCgagaggaagactctgtgtga	15	9	1	4	rs150720370		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:152281402C>T	ENST00000368799.1	-	3	5995	c.5960G>A	c.(5959-5961)cGt>cAt	p.R1987H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	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.R1987H(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)			AGCCTGTCCACGAGAGGAAGA	0.572									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1987H(1)	prostate(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						c.(5959-5961)cGt>cAt		filaggrin		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	565	449	488		5960	-3.3	0	1	dbSNP_134	488	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1987/4062	152281402	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281402C>T	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.5960G>A	1.37:g.152281402C>T	ENSP00000357789:p.Arg1987His					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R1987H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5995	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1987			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5960G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	2.436	-0.329840	0.05314	4.54E-4	0.0	ENSG00000143631	ENST00000368799	T	0.00940	5.52	1.66	-3.32	0.04973	.	.	.	.	.	T	0.00271	0.0008	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36432	-0.9748	9	0.39692	T	0.17	.	3.6898	0.08341	0.0:0.2542:0.2119:0.5339	.	1987	P20930	FILA_HUMAN	H	1987	ENSP00000357789:R1987H	ENSP00000357789:R1987H	R	-	2	0	FLG	150548026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-1.207000	0.02637	-0.915000	0.02750	CGT		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		212	288	0	0	0	1	0	212	288					T	152281402	C	T	152281402	3	4	460	1	0	0	0	0	1	0	0	0	5922	536	19	1	6229	1	FLG	1	152281402	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	77242711	152281402	96969219	4	38244											
EFNA3	1944	broad.mit.edu	37	chr1	155058634	155058634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggagaagccggtccccaCtctcccccagttcaccatgg	11	17	2	1	rs143760648		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155058634C>T	ENST00000368408.3	+	4	609	c.539C>T	c.(538-540)aCt>aTt	p.T180I	EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	180					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGTCCCCACTCTCCCCCAG	0.682											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(538-540)aCt>aTt		ephrin-A3		C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	39	38	38		539	4.5	1	1	dbSNP_134	38	0,8598		0,0,4299	no	missense	EFNA3	NM_004952.4	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	180/239	155058634	1,13003	2203	4299	6502	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058634C>T	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"Ephrins"	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.539C>T	1.37:g.155058634C>T	ENSP00000357393:p.Thr180Ile		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron	p.T180I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	609	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		180					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.539C>T	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462060	0.43736	2.27E-4	0.0	ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000505139	D;D;D	0.94650	-3.48;-3.44;-3.48	4.51	4.51	0.55191	.	0.076527	0.50627	D	0.000117	D	0.84520	0.5490	N	0.24115	0.695	0.80722	D	1	B;P	0.37061	0.346;0.58	B;B	0.32090	0.057;0.14	D	0.86089	0.1549	10	0.37606	T	0.19	-11.6412	15.1743	0.72899	0.0:1.0:0.0:0.0	.	175;180	B4DXG7;P52797	.;EFNA3_HUMAN	I	175;180;175	ENSP00000450814:T175I;ENSP00000357393:T180I;ENSP00000426741:T175I	ENSP00000357393:T180I	T	+	2	0	RP11-540D14.8;EFNA3	153325258	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.620000	0.61226	2.525000	0.85131	0.456000	0.33151	ACT		0.682	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		7	19	0	0	0	1	0	7	19					T	155058634	C	T	155058634	3	4	460	1	0	0	0	0	1	0	0	0	4952	565	20	2	553	2	EFNA3	1	155058634	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2777232	155058634	94191987	5	38245											
ARHGEF2	9181	broad.mit.edu	37	chr1	155935533	155935533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggtagatggccgagcttGgccgctcccggatggttgct	17	10	0	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155935533G>A	ENST00000361247.4	-	5	458	c.359C>T	c.(358-360)cCa>cTa	p.P120L	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P93L|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P165L|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P121L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	120					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)					GGCCGAGCTTGGCCGCTCCCG	0.622																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(277-279)cCa>cTa		Rho/Rac guanine nucleotide exchange factor (GEF) 2							38	45	43					1																	155935533		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155935533G>A	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.359C>T	1.37:g.155935533G>A	ENSP00000354837:p.Pro120Leu					ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P121L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L	p.P93L			Q92974	ARHG2_HUMAN			9	748	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		120					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.278C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119888	0.94385	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.69175	-0.38;-0.25;-0.26;-0.38;-0.38	4.97	4.97	0.65823	.	0.000000	0.47852	D	0.000213	T	0.77961	0.4209	M	0.74647	2.275	0.80722	D	1	D;P;D;D	0.89917	0.978;0.866;1.0;0.969	P;P;D;P	0.87578	0.762;0.659;0.998;0.877	T	0.79727	-0.1682	10	0.62326	D	0.03	-29.5863	15.7654	0.78123	0.0:0.0:1.0:0.0	.	165;165;120;120	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	L	93;120;121;93;165;93;120	ENSP00000315325:P93L;ENSP00000354837:P120L;ENSP00000357298:P121L;ENSP00000357299:P93L;ENSP00000314787:P120L	ENSP00000314787:P120L	P	-	2	0	ARHGEF2	154202157	1.000000	0.71417	0.972000	0.41901	0.912000	0.54170	9.382000	0.97209	2.596000	0.87737	0.561000	0.74099	CCA		0.622	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		13	29	0	0	0	1	0	13	29					A	155935533	G	A	155935533	3	1	460	1	0	0	0	0	1	0	0	0	903	1348	47	2	2673	2	ARHGEF2	1	155935533	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	876899	155935533	93315088	6	38246											
SOAT1	6646	broad.mit.edu	37	chr1	179319441	179319441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttagtttttctccaAgagattcaaatctgctgcca	5	9	4	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:179319441A>G	ENST00000367619.3	+	14	1468	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R|SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	442					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTTTCTCCAAGAGATTCAAA	0.353																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1324-1326)aAg>aGg		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						157	140	146					1																	179319441		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179319441A>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1325A>G	1.37:g.179319441A>G	ENSP00000356591:p.Lys442Arg					SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R|SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R	p.K442R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			14	1468	+			442					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1325A>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	6.161	0.397982	0.11696	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.81	4.5	0.54988	.	0.083974	0.85682	D	0.000000	T	0.51398	0.1672	N	0.14661	0.345	0.39545	D	0.968886	B;B	0.11235	0.004;0.004	B;B	0.17979	0.006;0.02	T	0.46830	-0.9163	10	0.09843	T	0.71	-21.7731	7.0761	0.25205	0.8287:0.0:0.1713:0.0	.	384;442	A8K3P4;P35610	.;SOAT1_HUMAN	R	377;384;178;442	ENSP00000441356:K377R;ENSP00000445315:K384R;ENSP00000442503:K178R;ENSP00000356591:K442R	ENSP00000356591:K442R	K	+	2	0	SOAT1	177586064	1.000000	0.71417	0.759000	0.31340	0.711000	0.40976	2.814000	0.48010	2.217000	0.71921	0.482000	0.46254	AAG		0.353	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		21	30	0	0	0	1	0	21	30					G	179319441	A	G	179319441	3	3	460	1	0	0	0	0	1	0	0	0	14910	72	3	3	1375	3	SOAT1	1	179319441	Missense_Mutation	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	23383908	179319441	69931180	7	38247											
USH2A	7399	broad.mit.edu	37	chr1	215808006	215808006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactctgtgcttttgctcCgcgatcccttctttttccca	6	14	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:215808006C>T	ENST00000307340.3	-	70	15478	c.15092G>A	c.(15091-15093)cGg>cAg	p.R5031Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R5031Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5031			R -> W (in dbSNP:rs56038610). {ECO:0000269|PubMed:18273898}.		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)		GCTTTTGCTCCGCGATCCCTT	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(15091-15093)cGg>cAg		Usher syndrome 2A (autosomal recessive, mild)							115	109	111					1																	215808006		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215808006C>T	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.15092G>A	1.37:g.215808006C>T	ENSP00000305941:p.Arg5031Gln	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R5031Q	p.R5031Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	70	15478	-			5031		R -> W.			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15092G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	1.787	-0.480373	0.04383	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12147	2.71;2.71	5.82	2.87	0.33458	.	0.495526	0.16770	N	0.200241	T	0.09069	0.0224	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	10	0.11794	T	0.64	.	6.3204	0.21215	0.0:0.5532:0.1289:0.3178	.	5031	O75445	USH2A_HUMAN	Q	5031	ENSP00000305941:R5031Q;ENSP00000355910:R5031Q	ENSP00000305941:R5031Q	R	-	2	0	USH2A	213874629	0.005000	0.15991	0.000000	0.03702	0.121000	0.20230	0.426000	0.21363	0.088000	0.17205	-0.797000	0.03246	CGG		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		32	60	0	0	0	1	0	32	60					T	215808006	C	T	215808006	3	4	460	1	0	0	0	0	1	0	0	0	17033	652	23	1	528	1	USH2A	1	215808006	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	36488565	215808006	33442615	8	38248											
OR2T4	127074	broad.mit.edu	37	chr1	248525695	248525695	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccggaaaaaggcctttgcCacctgctcctcccacctgac	9	17	0	1	rs183344109		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:248525695C>A	ENST00000366475.1	+	1	813	c.813C>A	c.(811-813)gcC>gcA	p.A271A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	271						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)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			AGGCCTTTGCCACCTGCTCCT	0.547													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20249	0.0		0.0	False		,,,				2504	0.0					ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(811-813)gcC>gcA		olfactory receptor, family 2, subfamily T, member 4							133	131	132					1																	248525695		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525695C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.813C>A	1.37:g.248525695C>A							p.A271A	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	813	+	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)		271					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.813C>A	CCDS31113.1																																																																																				0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		37	51	1	0	1.49673e-21	1	1.57988e-21	37	51					A	248525695	C	A	248525695	2	1	460	1	0	0	0	0	0	0	0	1	11027	581	21	4		4	OR2T4	1	248525695	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	32717689	248525695	724926	9	38249											
CPSF3	51692	broad.mit.edu	37	chr2	9574027	9574027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactggtgatttctcaagaCaagaagataggcacttaatg	9	7	1	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:9574027C>A	ENST00000238112.3	+	6	753	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	CPSF3_ENST00000460593.1_Missense_Mutation_p.Q146K	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	183					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)		TTTCTCAAGACAAGAAGATAG	0.308																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(436-438)Caa>Aaa		cleavage and polyadenylation specific factor 3, 73kDa							90	98	95					2																	9574027		2203	4299	6502	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9574027C>A	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.547C>A	2.37:g.9574027C>A	ENSP00000238112:p.Gln183Lys					CPSF3_ENST00000238112.3_Missense_Mutation_p.Q183K	p.Q146K			Q9UKF6	CPSF3_HUMAN		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)	6	1574	+	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)	183					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.436C>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105405	0.77096	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.79845	-1.31;-1.31	5.72	5.72	0.89469	Beta-lactamase-like (2);	0.058434	0.64402	D	0.000002	T	0.77103	0.4081	L	0.41710	1.295	0.80722	D	1	P;B	0.35139	0.486;0.028	B;B	0.36030	0.216;0.103	T	0.74948	-0.3490	10	0.38643	T	0.18	-23.3735	19.8709	0.96851	0.0:1.0:0.0:0.0	.	183;183	E7ER23;Q9UKF6	.;CPSF3_HUMAN	K	183;183;146	ENSP00000238112:Q183K;ENSP00000418957:Q146K	ENSP00000238112:Q183K	Q	+	1	0	CPSF3	9491478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.698000	0.92095	0.591000	0.81541	CAA		0.308	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		27	43	1	0	8.58068e-18	1	8.95786e-18	27	43					A	9574027	C	A	9574027	3	1	460	1	0	0	0	0	1	0	0	0	3826	479	17	4	569	4	CPSF3	2	9574027	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		9574027	233625346	10	38250											
SCN3A	6328	broad.mit.edu	37	chr2	165997166	165997166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatctattatcacctctgGgggaagttgtccagtaggtg	12	8	4	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:165997166G>A	ENST00000360093.3	-	13	2505	c.2014C>T	c.(2014-2016)Cca>Tca	p.P672S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	672					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)	ATCACCTCTGGGGGAAGTTGT	0.473																																						ENST00000360093.3																			0				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						c.(2014-2016)Cca>Tca		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						99	93	95					2																	165997166		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997166G>A	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.2014C>T	2.37:g.165997166G>A	ENSP00000353206:p.Pro672Ser					SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S	p.P672S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			13	2505	-			672					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2014C>T		.	.	.	.	.	.	.	.	.	.	G	14.84	2.654666	0.47467	.	.	ENSG00000153253	ENST00000360093;ENST00000283254	D;D	0.93189	-3.18;-3.18	6.07	5.17	0.71159	.	0.202040	0.35349	N	0.003269	D	0.95771	0.8624	M	0.86651	2.83	0.80722	D	1	P	0.44816	0.844	P	0.50314	0.637	D	0.95570	0.8637	10	0.51188	T	0.08	.	17.1414	0.86755	0.0:0.2327:0.7673:0.0	.	672	Q9NY46-3	.	S	672	ENSP00000353206:P672S;ENSP00000283254:P672S	ENSP00000283254:P672S	P	-	1	0	SCN3A	165705412	1.000000	0.71417	0.903000	0.35520	0.818000	0.46254	6.652000	0.74377	2.885000	0.99019	0.655000	0.94253	CCA		0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		27	31	0	0	0	1	0	27	31					A	165997166	G	A	165997166	3	1	460	1	0	0	0	0	1	0	0	0	13918	1232	43	2	4052	2	SCN3A	2	165997166	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	156423139	165997166	77202207	11	38251											
TTLL4	9654	broad.mit.edu	37	chr2	219602960	219602960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatacctctgcttggcagcGgctggggaaaacccttcagg	12	13	2	0	rs528979213		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:219602960G>A	ENST00000392102.1	+	3	901	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A|TTLL4_ENST00000442769.1_Silent_p.A187A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	187					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCTTGGCAGCGGCTGGGGAAA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18648	0.0		0.0	False		,,,				2504	0.0				GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(559-561)gcG>gcA		tubulin tyrosine ligase-like family, member 4							81	84	83					2																	219602960		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602960G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.561G>A	2.37:g.219602960G>A						TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A|TTLL4_ENST00000442769.1_Silent_p.A187A	p.A187A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	901	+		Renal(207;0.0915)	187					A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.561G>A	CCDS2422.1																																																																																				0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		47	55	0	0	0	1	0	47	55					A	219602960	G	A	219602960	2	1	460	1	0	0	0	0	0	0	0	1	16726	1103	39	1		1	TTLL4	2	219602960	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	53605794	219602960	23596413	12	38252											
COL6A3	1293	broad.mit.edu	37	chr2	238280552	238280552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggtctgcgttcctggCgatcgtgaaaggggccacgc	14	13	1	1	rs372234605		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:238280552C>T	ENST00000295550.4	-	9	4560	c.4108G>A	c.(4108-4110)Gcc>Acc	p.A1370T	COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1370	Nonhelical region.|VWFA 7. {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)		GCGTTCCTGGCGATCGTGAAA	0.612																																						ENST00000295550.4																			0				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						c.(4108-4110)Gcc>Acc		collagen, type VI, alpha 3							61	56	58					2																	238280552		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280552C>T	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.4108G>A	2.37:g.238280552C>T	ENSP00000295550:p.Ala1370Thr					COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T	p.A1370T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	9	4560	-		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)	1370			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4108G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724966	0.68959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.83	4.93	0.64822	von Willebrand factor, type A (3);	0.534212	0.16664	N	0.204647	D	0.87390	0.6165	L	0.39514	1.22	0.43693	D	0.996146	D;P;P;D;D	0.69078	0.997;0.954;0.947;0.997;0.992	D;P;P;D;P	0.69824	0.966;0.686;0.804;0.92;0.793	D	0.86816	0.2001	10	0.49607	T	0.09	.	15.9116	0.79477	0.1483:0.8517:0.0:0.0	.	763;963;1164;1164;1370	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	T	1370;1169;1164;763;1164;1170;1164;963	ENSP00000295550:A1370T;ENSP00000315609:A1169T;ENSP00000315873:A1164T;ENSP00000418285:A763T;ENSP00000386844:A1164T;ENSP00000295546:A1170T;ENSP00000375861:A1164T;ENSP00000375860:A963T	ENSP00000295550:A1370T	A	-	1	0	COL6A3	237945291	0.963000	0.33076	0.009000	0.14445	0.050000	0.14768	3.265000	0.51561	1.392000	0.46585	0.650000	0.86243	GCC		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	43	0	0	0	1	0	5	43					T	238280552	C	T	238280552	3	4	460	1	0	0	0	0	1	0	0	0	3701	768	27	1	5616	1	COL6A3	2	238280552	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	18677592	238280552	4918821	13	38253											
CADPS	8618	broad.mit.edu	37	chr3	62463981	62463981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgccatcaacttcagcCgttgttccaggtgctttcca	7	14	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:62463981C>T	ENST00000383710.4	-	23	3633	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1095	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)		CAACTTCAGCCGTTGTTCCAG	0.502																																						ENST00000383710.4																			0				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						c.(3283-3285)cGg>cAg		Ca++-dependent secretion activator							230	203	212					3																	62463981		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62463981C>T	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.3284G>A	3.37:g.62463981C>T	ENSP00000373215:p.Arg1095Gln					CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q	p.R1095Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	23	3633	-		Lung SC(41;0.0452)	1095			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3284G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.059141|6.059141	0.97246|0.97246	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.30981	.|1.51;1.51;1.51	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Munc13 homology 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62036|0.62036	0.2395|0.2395	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.975;0.978;1.0	T|T	0.63189|0.63189	-0.6693|-0.6693	5|10	.|0.87932	.|D	.|0	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1016;1056;1095;1095	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	S|Q	82|1095;1095;1016;1056	.|ENSP00000373215:R1095Q;ENSP00000350632:R1016Q;ENSP00000283269:R1056Q	.|ENSP00000283269:R1056Q	G|R	-|-	1|2	0|0	CADPS|CADPS	62439021|62439021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.502	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		14	78	0	0	0	1	0	14	78					T	62463981	C	T	62463981	3	4	460	1	0	0	0	0	1	0	0	0	2570	652	23	1	809	1	CADPS	3	62463981	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		62463981	135558449	14	38254											
DGKG	1608	broad.mit.edu	37	chr3	186024718	186024718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatattgtttgaggctcCcaccctcattaaattcagtc	7	11	3	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:186024718C>T	ENST00000265022.3	-	3	655	c.116G>A	c.(115-117)gGg>gAg	p.G39E	DGKG_ENST00000544847.1_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000344484.4_Missense_Mutation_p.G39E	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	39					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)	TTTGAGGCTCCCACCCTCATT	0.383																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(115-117)gGg>gAg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						156	153	154					3																	186024718		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186024718C>T	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.116G>A	3.37:g.186024718C>T	ENSP00000265022:p.Gly39Glu					DGKG_ENST00000544847.1_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000344484.4_Missense_Mutation_p.G39E	p.G39E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	3	655	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		39					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.116G>A	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049437	0.75846	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.66	4.66	0.58398	.	0.222904	0.35495	N	0.003176	T	0.77890	0.4198	L	0.58810	1.83	0.52501	D	0.999955	D;D;D;D	0.89917	0.982;0.992;0.957;1.0	P;P;P;D	0.80764	0.86;0.86;0.781;0.994	T	0.79885	-0.1614	10	0.87932	D	0	.	13.7663	0.62997	0.0:1.0:0.0:0.0	.	39;39;39;39	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	E	39;39;39;39;42	ENSP00000265022:G39E;ENSP00000339777:G39E;ENSP00000371599:G39E;ENSP00000440507:G39E	ENSP00000265022:G39E	G	-	2	0	DGKG	187507412	0.990000	0.36364	0.782000	0.31804	0.839000	0.47603	3.670000	0.54569	2.518000	0.84900	0.557000	0.71058	GGG		0.383	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			8	42	0	0	0	1	0	8	42					T	186024718	C	T	186024718	3	4	460	1	0	0	0	0	1	0	0	0	4469	623	22	2	2351	2	DGKG	3	186024718	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	123560737	186024718	11997712	15	38255											
PRMT10	90826	broad.mit.edu	37	chr4	148605024	148605024	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggcagtgccgaagtcctGgacgcccagacagtgctctg	13	12	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:148605024G>A	ENST00000322396.6	-	1	357	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		39						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCGAAGTCCTGGACGCCCAGA	0.672																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(115-117)Cag>Tag		protein arginine methyltransferase 10 (putative)							58	61	60					4																	148605024		2203	4300	6503	SO:0001587	stop_gained	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148605024G>A																												ENST00000322396.6:c.115C>T	4.37:g.148605024G>A	ENSP00000314396:p.Gln39*					PRMT10_ENST00000541232.1_5'UTR	p.Q39*	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			1	357	-			39					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Nonsense_Mutation	SNP	ENST00000322396.6	37	c.115C>T	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	G	40	8.056497	0.98632	.	.	ENSG00000164169	ENST00000322396	.	.	.	5.14	5.14	0.70334	.	0.178441	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8534	0.92241	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000314396:Q39X	Q	-	1	0	PRMT10	148824474	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	7.109000	0.77062	2.678000	0.91216	0.644000	0.83932	CAG		0.672	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			15	52	0	0	0	1	0	15	52					A	148605024	G	A	148605024	4	1	460	1	0	0	0	0	0	1	0	0	12536	1357	47	2	2470	2	PRMT10	4	148605024	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		148605024	42549252	16	38256											
ODZ3	55714	broad.mit.edu	37	chr4	183664409	183664409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgggcaatgggcgaaggCgcagcatttcctgccccagt	13	12	1	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:183664409C>T	ENST00000511685.1	+	19	3589	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C	TENM3_ENST00000406950.2_Missense_Mutation_p.R1156C|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1156					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGGCGAAGGCGCAGCATTTC	0.522																																						ENST00000511685.1																			0											c.(3466-3468)Cgc>Tgc		teneurin transmembrane protein 3							77	80	79					4																	183664409		2040	4197	6237	SO:0001583	missense	55714							g.chr4:183664409C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3466C>T	4.37:g.183664409C>T	ENSP00000424226:p.Arg1156Cys					TENM3_ENST00000406950.2_Missense_Mutation_p.R1156C|TENM3_ENST00000502950.1_3'UTR	p.R1156C							19	3589	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3466C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332184	0.81801	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91011	-2.77;-2.77	5.45	5.45	0.79879	.	.	.	.	.	D	0.96030	0.8707	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96158	0.9113	9	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	1156	Q9P273	TEN3_HUMAN	C	1156	ENSP00000424226:R1156C;ENSP00000385276:R1156C	ENSP00000385276:R1156C	R	+	1	0	ODZ3	183901403	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	3.770000	0.55310	2.838000	0.97847	0.561000	0.74099	CGC		0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			10	28	0	0	0	1	0	10	28					T	183664409	C	T	183664409	3	4	460	1	0	0	0	0	1	0	0	0	10836	768	27	1	3536	1	ODZ3	4	183664409	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	35059385	183664409	7489867	17	38257											
SLC9A3	6550	broad.mit.edu	37	chr5	488443	488443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaccacggtgactgcGtcgttcagcagcgactcccc	10	16	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:488443G>A	ENST00000264938.3	-	3	672	c.663C>T	c.(661-663)gaC>gaT	p.D221D	SLC9A3_ENST00000514375.1_Silent_p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	221					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGTGACTGCGTCGTTCAGCA	0.662																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(661-663)gaC>gaT		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							63	58	59					5																	488443		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:488443G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.663C>T	5.37:g.488443G>A						SLC9A3_ENST00000514375.1_Silent_p.D221D	p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		3	672	-			221					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.663C>T	CCDS3855.1																																																																																				0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		13	57	0	0	0	1	0	13	57					A	488443	G	A	488443	2	1	460	1	0	0	0	0	0	0	0	1	14713	1136	40	1		1	SLC9A3	5	488443	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		488443	180426817	18	38258											
NIPBL	25836	broad.mit.edu	37	chr5	37000657	37000657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaagattattctcctcctCccagccttagtgagggtaat	9	10	1	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:37000657C>T	ENST00000282516.8	+	12	3986	c.3487C>T	c.(3487-3489)Ccc>Tcc	p.P1163S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1163					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)			TTCTCCTCCTCCCAGCCTTAG	0.393																																						ENST00000282516.8																			0				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						c.(3487-3489)Ccc>Tcc		Nipped-B homolog (Drosophila)							118	113	115					5																	37000657		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37000657C>T	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.3487C>T	5.37:g.37000657C>T	ENSP00000282516:p.Pro1163Ser					NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		12	3986	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1163					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3487C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803693	0.90623	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93076	-3.16;-3.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.972;0.998	D	0.93776	0.7079	10	0.25106	T	0.35	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	1163;1163	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	S	1163	ENSP00000282516:P1163S;ENSP00000406266:P1163S	ENSP00000282516:P1163S	P	+	1	0	NIPBL	37036414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.759000	0.94783	0.591000	0.81541	CCC		0.393	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		20	51	0	0	0	1	0	20	51					T	37000657	C	T	37000657	3	4	460	1	0	0	0	0	1	0	0	0	10428	855	30	2	3529	2	NIPBL	5	37000657	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	36512214	37000657	143914603	19	38259											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719294	140719294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaccgcataagcattccGgagaatacgctcgtgggcac	12	11	0	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140719294G>A	ENST00000394576.2	+	1	756	c.756G>A	c.(754-756)ccG>ccA	p.P252P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	252	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)			TAAGCATTCCGGAGAATACGC	0.552																																						ENST00000394576.2																			0				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						c.(754-756)ccG>ccA									74	77	76					5																	140719294		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140719294G>A	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.756G>A	5.37:g.140719294G>A						PCDHGA1_ENST00000517417.1_Intron	p.P252P	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	756	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.756G>A	CCDS47289.1																																																																																				0.552	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		34	80	0	0	0	1	0	34	80					A	140719294	G	A	140719294	2	1	460	1	0	0	0	0	0	0	0	1	11554	1103	39	1		1	PCDHGA2	5	140719294	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	103718637	140719294	40195966	20	38260											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744172	140744172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcgggcaggatagaccGggaggagctctgcgctcaga	16	12	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140744172G>A	ENST00000518069.1	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	92	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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGACCGGGAGGAGCTC	0.537																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(274-276)cGg>cAg									53	62	59					5																	140744172		2188	4297	6485	SO:0001583	missense	0							g.chr5:140744172G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.275G>A	5.37:g.140744172G>A	ENSP00000429834:p.Arg92Gln					PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R92Q	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	275	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.275G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.960244	0.92791	.	.	ENSG00000253485	ENST00000518069	T	0.53206	0.63	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84106	0.5399	H	0.99924	4.96	0.35492	D	0.799092	D;D	0.89917	0.996;1.0	P;D	0.66497	0.887;0.944	D	0.93803	0.7103	9	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	92;92	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	92	ENSP00000429834:R92Q	ENSP00000429834:R92Q	R	+	2	0	PCDHGA5	140724356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.810000	0.99221	2.694000	0.91930	0.558000	0.71614	CGG		0.537	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		19	87	0	0	0	1	0	19	87					A	140744172	G	A	140744172	3	1	460	1	0	0	0	0	1	0	0	0	11557	1116	39	1	277	1	PCDHGA5	5	140744172	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	24878	140744172	40171088	21	38261											
RANBP17	64901	broad.mit.edu	37	chr5	170692729	170692729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccagtttagactacatcGtcacctacctcttcaagcac	5	14	3	1	rs141341938	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:170692729G>A	ENST00000523189.1	+	25	2985	c.2821G>A	c.(2821-2823)Gtc>Atc	p.V941I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	941					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTACATCGTCACCTACCT	0.418			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2821-2823)Gtc>Atc		RAN binding protein 17		G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	119	118	118		2821	3.8	1	5	dbSNP_134	118	0,8600		0,0,4300	yes	missense	RANBP17	NM_022897.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	941/1089	170692729	3,13003	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170692729G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2821G>A	5.37:g.170692729G>A	ENSP00000427975:p.Val941Ile					RANBP17_ENST00000521759.1_3'UTR	p.V941I	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		25	2985	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	941					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2821G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956418	0.73902	6.81E-4	0.0	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66460	-0.21	5.67	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.205268	0.33895	N	0.004452	T	0.62109	0.2401	L	0.58428	1.81	0.35794	D	0.822647	D	0.60160	0.987	P	0.45449	0.481	T	0.67035	-0.5772	10	0.30854	T	0.27	-5.7438	9.4438	0.38684	0.076:0.1439:0.7801:0.0	.	941	Q9H2T7	RBP17_HUMAN	I	941;371	ENSP00000427975:V941I	ENSP00000427975:V941I	V	+	1	0	RANBP17	170625334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.554000	0.45845	0.823000	0.34589	0.561000	0.74099	GTC		0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		24	97	0	0	0	1	0	24	97					A	170692729	G	A	170692729	3	1	460	1	0	0	0	0	1	0	0	0	13027	1145	40	1	2919	1	RANBP17	5	170692729	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	29948557	170692729	10222531	22	38262											
ZNF192	7745	broad.mit.edu	37	chr6	28121482	28121482	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaaaccttcaggcggagctCacatcttattggtcatcaga	9	10	5	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:28121482C>A	ENST00000330236.6	+	6	1608	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.S475*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	475					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)										AGGCGGAGCTCACATCTTATT	0.498																																						ENST00000330236.6																			0											c.(1423-1425)tCa>tAa		zinc finger with KRAB and SCAN domains 8							50	51	50					6																	28121482		2203	4300	6503	SO:0001587	stop_gained	0							g.chr6:28121482C>A		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1424C>A	6.37:g.28121482C>A	ENSP00000332750:p.Ser475*					ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.S475*	p.S475*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2					6	1608	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	ENST00000330236.6	37	c.1424C>A	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719108	0.97788	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	5.99	5.99	0.97316	.	0.000000	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2427	0.60006	0.0:0.9239:0.0:0.0761	.	.	.	.	X	475	.	ENSP00000332750:S475X	S	+	2	0	ZNF192	28229461	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.290000	0.18975	2.853000	0.98044	0.655000	0.94253	TCA		0.498	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			21	28	1	0	3.51602e-12	1	3.59163e-12	21	28					A	28121482	C	A	28121482	4	1	460	1	0	0	0	0	0	1	0	0	17753	838	29	4	1442	4	ZNF192	6	28121482	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		28121482	142993585	23	38263											
RIMS1	22999	broad.mit.edu	37	chr6	72889437	72889437	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaagagaaaagaaagcaCgactccaagagcgatcgcgg	11	10	0	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:72889437C>T	ENST00000521978.1	+	5	631	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R211*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	211					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)				AAAGAAAGCACGACTCCAAGA	0.567																																						ENST00000264839.7																			0				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						c.(631-633)Cga>Tga		regulating synaptic membrane exocytosis 1							75	84	81					6																	72889437		2079	4216	6295	SO:0001587	stop_gained	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889437C>T	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.631C>T	6.37:g.72889437C>T	ENSP00000428417:p.Arg211*					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R211*	p.R211*			Q86UR5	RIMS1_HUMAN			5	631	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	211					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.631C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592593	0.86953	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	1.24	0.21308	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-13.8048	15.4766	0.75485	0.6152:0.3848:0.0:0.0	.	.	.	.	X	211	.	ENSP00000264839:R211X	R	+	1	2	RIMS1	72946158	0.148000	0.22702	0.638000	0.29380	0.953000	0.61014	0.443000	0.21644	0.282000	0.22254	-0.182000	0.12963	CGA		0.567	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			19	39	0	0	0	1	0	19	39					T	72889437	C	T	72889437	4	4	460	1	0	0	0	0	0	1	0	0	13367	528	19	1	649	1	RIMS1	6	72889437	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	44767955	72889437	98225630	24	38264											
UTRN	7402	broad.mit.edu	37	chr6	145156985	145156985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccccagtgagccagccGcagagcccagctcagatcct	11	16	1	3	rs375428730		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:145156985G>A	ENST00000367545.3	+	69	9735	c.9735G>A	c.(9733-9735)ccG>ccA	p.P3245P	UTRN_ENST00000367526.4_Silent_p.P800P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3245					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)		TGAGCCAGCCGCAGAGCCCAG	0.557																																						ENST00000367545.3																			0				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						c.(9733-9735)ccG>ccA		utrophin		G		1,4405	2.1+/-5.4	0,1,2202	118	120	119		9735	-11.8	0.8	6		119	0,8600		0,0,4300	no	coding-synonymous	UTRN	NM_007124.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3245/3434	145156985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145156985G>A	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.9735G>A	6.37:g.145156985G>A						UTRN_ENST00000367526.4_Silent_p.P800P	p.P3245P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	69	9735	+		Ovarian(120;0.218)	3245					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.9735G>A	CCDS34547.1																																																																																				0.557	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	157	0	0	0	1	0	4	157					A	145156985	G	A	145156985	2	1	460	1	0	0	0	0	0	0	0	1	17100	1074	38	1		1	UTRN	6	145156985	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	72267548	145156985	25958082	25	38265											
CCDC129	223075	broad.mit.edu	37	chr7	31682624	31682624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcttctgccaatgcCccatgctgagtatgaggtca	12	11	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:31682624C>T	ENST00000407970.3	+	11	1678	c.1640C>T	c.(1639-1641)cCc>cTc	p.P547L	CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L|CCDC129_ENST00000319386.3_Missense_Mutation_p.P399L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	547										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGCCAATGCCCCATGCTGAG	0.527																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1195-1197)cCc>cTc		coiled-coil domain containing 129							140	135	137					7																	31682624		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682624C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1640C>T	7.37:g.31682624C>T	ENSP00000384416:p.Pro547Leu					CCDC129_ENST00000407970.3_Missense_Mutation_p.P547L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L|CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L	p.P399L			Q6ZRS4	CC129_HUMAN			11	2189	+			547					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1196C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937452	0.52972	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.21361	2.01;2.28;2.28;2.02	5.86	3.88	0.44766	.	1.753860	0.02938	N	0.140064	T	0.28001	0.0690	L	0.54323	1.7	0.09310	N	1	P;P;P;P	0.41188	0.741;0.741;0.741;0.741	B;B;B;B	0.39258	0.295;0.295;0.295;0.295	T	0.37407	-0.9707	10	0.62326	D	0.03	-22.0658	11.4731	0.50282	0.4138:0.5862:0.0:0.0	.	573;557;547;399	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	L	399;547;573;557;455	ENSP00000313062:P399L;ENSP00000384416:P547L;ENSP00000395835:P573L;ENSP00000387214:P455L	ENSP00000313062:P399L	P	+	2	0	CCDC129	31649149	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.595000	0.24029	1.322000	0.45245	0.591000	0.81541	CCC		0.527	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		31	161	0	0	0	1	0	31	161					T	31682624	C	T	31682624	3	4	460	1	0	0	0	0	1	0	0	0	2764	623	22	2	1678	2	CCDC129	7	31682624	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		31682624	127456039	26	38266											
NPC1L1	29881	broad.mit.edu	37	chr7	44560403	44560403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagttcacagaggtgcTgtatgctgccaggccgctgc	13	11	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:44560403T>C	ENST00000289547.4	-	14	3152	c.3097A>G	c.(3097-3099)Agc>Ggc	p.S1033G	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1033					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)	ACAGAGGTGCTGTATGCTGCC	0.582																																						ENST00000289547.4																			0				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						c.(3097-3099)Agc>Ggc		NPC1-like 1	Ezetimibe(DB00973)						85	78	81					7																	44560403		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560403T>C		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.3097A>G	7.37:g.44560403T>C	ENSP00000289547:p.Ser1033Gly					NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G	p.S1033G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			14	3152	-			1033					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3097A>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	T	0.122	-1.124917	0.01770	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93426	-3.12;-3.13;-3.22	4.77	2.41	0.29592	.	0.179090	0.44688	D	0.000439	T	0.82157	0.4976	N	0.12422	0.21	0.23632	N	0.997241	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.10450	0.005;0.002;0.001;0.002	T	0.66791	-0.5834	10	0.18710	T	0.47	-21.5635	4.8936	0.13738	0.0:0.4012:0.0:0.5988	.	987;1033;1033;1033	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	G	1033;1033;987	ENSP00000289547:S1033G;ENSP00000370552:S1033G;ENSP00000438033:S987G	ENSP00000289547:S1033G	S	-	1	0	NPC1L1	44526928	0.769000	0.28531	0.974000	0.42286	0.530000	0.34684	0.579000	0.23788	0.651000	0.30788	0.379000	0.24179	AGC		0.582	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		32	69	0	0	0	1	0	32	69					C	44560403	T	C	44560403	3	2	460	1	0	0	0	0	1	0	0	0	10571	1580	55	3	1010	3	NPC1L1	7	44560403	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08	12877779	44560403	114578260	27	38267											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	13	9	0	2	rs149840192		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.A289V(20)|p.A289D(3)		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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	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						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178	142	154					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		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.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		7	1043	+	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)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		912	374	0	0	0	1	0	912	374					T	55221822	C	T	55221822	3	4	460	1	0	0	0	0	1	0	0	0	4967	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	10661419	55221822	103916841	28	38268											
ANKRD7	56311	broad.mit.edu	37	chr7	117874919	117874919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacgaagctgatcttgaagcGaaaaataaggtagttttcta	9	5	2	2	rs539928890	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:117874919G>A	ENST00000265224.4	+	3	614	c.459G>A	c.(457-459)gcG>gcA	p.A153A	ANKRD7_ENST00000357099.4_Silent_p.A173A|ANKRD7_ENST00000417525.1_Silent_p.A100A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Silent_p.A100A	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	153					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0					ENST00000357099.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(517-519)gcG>gcA		ankyrin repeat domain 7							92	81	84					7																	117874919		1816	4074	5890	SO:0001819	synonymous_variant	56311				male gonad development			g.chr7:117874919G>A	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"Ankyrin repeat domain containing"	18588	protein-coding gene	gene with protein product	"testis-specific ankyrin motif containing protein"	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.459G>A	7.37:g.117874919G>A						ANKRD7_ENST00000433239.1_Silent_p.A100A|ANKRD7_ENST00000265224.4_Silent_p.A153A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Silent_p.A100A	p.A173A			Q92527	ANKR7_HUMAN			4	692	+			153					B4DYF5|Q96QN1|Q9UDM3	Silent	SNP	ENST00000265224.4	37	c.519G>A	CCDS43638.1																																																																																				0.299	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		5	44	0	0	0	1	0	5	44					A	117874919	G	A	117874919	2	1	460	1	0	0	0	0	0	0	0	1	686	1045	37	1		1	ANKRD7	7	117874919	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	62653097	117874919	41263744	29	38269											
GPR37	2861	broad.mit.edu	37	chr7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctctagttgaatctgccGtttattccctcgggtacagg	9	11	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1444-1446)Cgg>Tgg		G protein-coupled receptor 37 (endothelin receptor type B-like)							109	105	107					7																	124386977		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386977G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1444C>T	7.37:g.124386977G>A	ENSP00000306449:p.Arg482Trp						p.R482W	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			2	2094	-			482					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1444C>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047273	0.55110	.	.	ENSG00000170775	ENST00000303921	T	0.46451	0.87	5.62	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.52256	0.1723	L	0.32530	0.975	0.40585	D	0.981436	D	0.89917	1.0	D	0.77557	0.99	T	0.58515	-0.7623	10	0.87932	D	0	-23.3794	15.1042	0.72306	0.0:0.0:0.6227:0.3773	.	482	O15354	GPR37_HUMAN	W	482	ENSP00000306449:R482W	ENSP00000306449:R482W	R	-	1	2	GPR37	124174213	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.745000	0.47459	0.666000	0.31087	0.655000	0.94253	CGG		0.428	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		17	106	0	0	0	1	0	17	106					A	124386977	G	A	124386977	3	1	460	1	0	0	0	0	1	0	0	0	6691	1144	40	1	401	1	GPR37	7	124386977	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	6512058	124386977	34751686	30	38270											
GRM8	2918	broad.mit.edu	37	chr7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccatcaatggtactcattCgtggacaaaggccaatgtat	8	10	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					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)				GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)																												ENST00000339582.2																			0				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						c.(1297-1299)cGa>cAa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						142	129	134					7																	126409978		2203	4299	6502	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409978C>T		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.1298G>A	7.37:g.126409978C>T	ENSP00000344173:p.Arg433Gln	HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q	p.R433Q			O00222	GRM8_HUMAN			7	2106	-		Prostate(267;0.186)	433					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1298G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848477	0.51164	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	N	0.12471	0.22	0.50632	D	0.999884	B;B;B	0.20550	0.046;0.024;0.013	B;B;B	0.22601	0.04;0.004;0.028	T	0.72047	-0.4408	10	0.21540	T	0.41	.	18.9751	0.92733	0.0:1.0:0.0:0.0	.	433;433;433	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	Q	433	ENSP00000344173:R433Q;ENSP00000409790:R433Q;ENSP00000351142:R433Q;ENSP00000385731:R433Q	ENSP00000344173:R433Q	R	-	2	0	GRM8	126197214	0.157000	0.22836	1.000000	0.80357	0.995000	0.86356	2.604000	0.46274	2.708000	0.92522	0.650000	0.86243	CGA		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			50	89	0	0	0	1	0	50	89					T	126409978	C	T	126409978	3	4	460	1	0	0	0	0	1	0	0	0	6803	884	31	1	1498	1	GRM8	7	126409978	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2023001	126409978	32728685	31	38271											
DOCK5	80005	broad.mit.edu	37	chr8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcatcgtggacccggccGtcatggggggcttctccaac	15	13	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:25253206G>A	ENST00000276440.7	+	45	4719	c.4675G>A	c.(4675-4677)Gtc>Atc	p.V1559I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCCGGCCGTCATGGGGGG	0.582																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4675-4677)Gtc>Atc		dedicator of cytokinesis 5							55	51	52					8																	25253206		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25253206G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4675G>A	8.37:g.25253206G>A	ENSP00000276440:p.Val1559Ile						p.V1559I	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	45	4719	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1559			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4675G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533043	0.96446	.	.	ENSG00000147459	ENST00000276440	T	0.30714	1.52	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.60869	0.2302	M	0.91972	3.26	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.55923	0.787;0.787	T	0.68965	-0.5270	10	0.56958	D	0.05	.	19.855	0.96755	0.0:0.0:1.0:0.0	.	1549;1559	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	I	1559	ENSP00000276440:V1559I	ENSP00000276440:V1559I	V	+	1	0	DOCK5	25309123	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	9.830000	0.99415	2.691000	0.91804	0.561000	0.74099	GTC		0.582	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		14	12	0	0	0	1	0	14	12					A	25253206	G	A	25253206	3	1	460	1	0	0	0	0	1	0	0	0	4690	1145	40	1	4853	1	DOCK5	8	25253206	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		25253206	121110816	32	38272											
ANK1	286	broad.mit.edu	37	chr8	41530255	41530255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagagaaggcgtgaggccCgcagaccacacctgcatgtc	12	14	0	3	rs138394311	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:41530255C>T	ENST00000347528.4	-	38	4796	c.4713G>A	c.(4711-4713)gcG>gcA	p.A1571A	ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000379758.2_Silent_p.A1571A|ANK1_ENST00000352337.4_Silent_p.A1571A|ANK1_ENST00000396942.1_Silent_p.A1571A|ANK1_ENST00000265709.8_Silent_p.A1612A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1571	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGAGGCCCGCAGACCACA	0.602													C|||	5	0.000998403	0.0023	0.0	5008	,	,		19846	0.0		0.0	False		,,,				2504	0.002					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4711-4713)gcG>gcA		ankyrin 1, erythrocytic		C	,,,,	6,4400	9.9+/-24.2	0,6,2197	57	56	56		4713,4836,4713,4713,	1.2	1	8	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,,,,	1571/1881,1612/1898,1571/1857,1571/1882,	41530255	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530255C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4713G>A	8.37:g.41530255C>T						ANK1_ENST00000265709.8_Silent_p.A1612A|ANK1_ENST00000379758.2_Silent_p.A1571A|ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000347528.4_Silent_p.A1571A|ANK1_ENST00000352337.4_Silent_p.A1571A	p.A1571A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4796	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1571			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4713G>A	CCDS6119.1																																																																																				0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		19	31	0	0	0	1	0	19	31					T	41530255	C	T	41530255	2	4	460	1	0	0	0	0	0	0	0	1	620	639	23	1		1	ANK1	8	41530255	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	16277049	41530255	104833767	33	38273											
KCNB2	9312	broad.mit.edu	37	chr8	73480009	73480009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttaaacaggaagactTcaaggtcgacactttccctt	9	11	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:73480009T>C	ENST00000523207.1	+	2	628	c.40T>C	c.(40-42)Tca>Cca	p.S14P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	14					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)	CAGGAAGACTTCAAGGTCGAC	0.502																																						ENST00000523207.1																			0				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						c.(40-42)Tca>Cca		potassium voltage-gated channel, Shab-related subfamily, member 2							88	88	88					8																	73480009		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480009T>C	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.40T>C	8.37:g.73480009T>C	ENSP00000430846:p.Ser14Pro						p.S14P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	628	+	Breast(64;0.137)		14					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.40T>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104953	0.77096	.	.	ENSG00000182674	ENST00000523207	D	0.97256	-4.31	5.95	4.79	0.61399	.	.	.	.	.	D	0.96516	0.8863	L	0.32530	0.975	0.40379	D	0.97942	D	0.71674	0.998	P	0.61800	0.894	D	0.96644	0.9476	9	0.72032	D	0.01	.	11.9014	0.52687	0.0:0.0677:0.0:0.9323	.	14	Q92953	KCNB2_HUMAN	P	14	ENSP00000430846:S14P	ENSP00000430846:S14P	S	+	1	0	KCNB2	73642563	0.986000	0.35501	0.910000	0.35882	0.977000	0.68977	4.635000	0.61332	1.075000	0.40932	0.533000	0.62120	TCA		0.502	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		39	53	0	0	0	1	0	39	53					C	73480009	T	C	73480009	3	2	460	1	0	0	0	0	1	0	0	0	8013	1783	62	3	42	3	KCNB2	8	73480009	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08	31949754	73480009	72884013	34	38274											
MKI67	4288	broad.mit.edu	37	chr10	129921413	129921413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaacaggaagctggataCggatgtcacattcaataccc	8	11	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr10:129921413C>T	ENST00000368654.3	-	3	488	c.113G>A	c.(112-114)cGt>cAt	p.R38H	MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	38	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				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)				AAGCTGGATACGGATGTCACA	0.348																																						ENST00000368654.3																			0				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						c.(112-114)cGt>cAt		marker of proliferation Ki-67							94	90	91					10																	129921413		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129921413C>T	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.113G>A	10.37:g.129921413C>T	ENSP00000357643:p.Arg38His					MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			3	488	-		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)	38			FHA.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.113G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419141	0.83559	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	D;D	0.86865	-2.18;-2.18	4.5	4.5	0.54988	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.071776	0.56097	D	0.000031	D	0.92090	0.7493	M	0.69185	2.1	0.40896	D	0.984112	D;D	0.89917	1.0;0.995	D;D	0.87578	0.998;0.96	D	0.92191	0.5759	9	.	.	.	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	38;38	P46013-2;P46013	.;KI67_HUMAN	H	38	ENSP00000357643:R38H;ENSP00000357642:R38H	.	R	-	2	0	MKI67	129811403	1.000000	0.71417	0.959000	0.39883	0.778000	0.44026	5.175000	0.65021	2.354000	0.79902	0.585000	0.79938	CGT		0.348	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		20	6	0	0	0	1	0	20	6					T	129921413	C	T	129921413	3	4	460	1	0	0	0	0	1	0	0	0	9598	536	19	1	9709	1	MKI67	10	129921413	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		129921413	5613334	35	38275											
MUC5B	727897	broad.mit.edu	37	chr11	1271690	1271690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctttacagccatcccctCctcctccctgggcaccacct	5	21	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:1271690C>A	ENST00000529681.1	+	31	13638	c.13580C>A	c.(13579-13581)tCc>tAc	p.S4527Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.S4530Y|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4527	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)		GCCATCCCCTCCTCCTCCCTG	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13588-13590)tCc>tAc		mucin 5B, oligomeric mucus/gel-forming							54	80	71					11																	1271690		2033	4155	6188	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271690C>A	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.13580C>A	11.37:g.1271690C>A	ENSP00000436812:p.Ser4527Tyr					MUC5B_ENST00000529681.1_Missense_Mutation_p.S4527Y	p.S4530Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13647	+		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)	4527			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13589C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.996	-0.207181	0.06180	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.25085	1.82;2.01	2.12	-0.592	0.11671	.	.	.	.	.	T	0.16642	0.0400	L	0.43923	1.385	0.09310	N	1	B;B	0.32876	0.388;0.388	B;B	0.23275	0.045;0.045	T	0.19095	-1.0316	9	0.87932	D	0	.	5.0627	0.14566	0.0:0.4429:0.4152:0.1419	.	5000;4530	A7Y9J9;E9PBJ0	.;.	Y	4527;4530;4471;4377	ENSP00000436812:S4527Y;ENSP00000415793:S4530Y	ENSP00000343037:S4471Y	S	+	2	0	MUC5B	1228266	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	1.113000	0.31184	0.164000	0.19529	0.184000	0.17185	TCC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		33	66	1	0	2.66277e-13	1	2.74959e-13	33	66					A	1271690	C	A	1271690	3	1	460	1	0	0	0	0	1	0	0	0	9979	855	30	4	13711	4	MUC5B	11	1271690	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		1271690	133734826	36	38276											
OR51T1	401665	broad.mit.edu	37	chr11	4903844	4903844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaagaagcaacaaaaaGctctcagcacttgtgtctgt	8	11	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:4903844G>T	ENST00000322049.1	+	1	715	c.715G>T	c.(715-717)Gct>Tct	p.A239S	OR51T1_ENST00000380378.1_Missense_Mutation_p.A266S|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	239						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(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACAAAAAGCTCTCAGCAC	0.488																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(796-798)Gct>Tct		olfactory receptor, family 51, subfamily T, member 1							88	75	79					11																	4903844		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903844G>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.715G>T	11.37:g.4903844G>T	ENSP00000322679:p.Ala239Ser					MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.A239S|MMP26_ENST00000380390.1_Intron	p.A266S	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	796	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	239					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.796G>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.138921	0.77775	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.45668	0.89;0.89	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000519	T	0.69251	0.3090	M	0.86805	2.84	0.42755	D	0.993786	D	0.76494	0.999	D	0.83275	0.996	T	0.74725	-0.3568	10	0.54805	T	0.06	.	16.6843	0.85301	0.0:0.0:1.0:0.0	.	239	Q8NGJ9	O51T1_HUMAN	S	266;239	ENSP00000369738:A266S;ENSP00000322679:A239S	ENSP00000322679:A239S	A	+	1	0	OR51T1	4860420	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.467000	0.45093	2.519000	0.84933	0.484000	0.47621	GCT		0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		7	28	1	0	2.0095e-06	1	2.03088e-06	7	28					T	4903844	G	T	4903844	3	4	460	1	0	0	0	0	1	0	0	0	11106	971	34	4	798	4	OR51T1	11	4903844	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	3632154	4903844	130102672	37	38277											
MS4A6A	64231	broad.mit.edu	37	chr11	59949075	59949075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaataactttgatttctgcGtgtagatgtttcttcaggct	8	8	3	2	rs113133013	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:59949075G>A	ENST00000530839.1	-	3	618	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000528851.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000532169.1_Silent_p.H42H	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral component of membrane (GO:0016021)		p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		3887	0.0		0.0	False		,,,				2504	0.0					ENST00000528851.1																			1	Substitution - coding silent(1)	p.H42H(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(124-126)caC>caT		membrane-spanning 4-domains, subfamily A, member 6A							185	172	177					11																	59949075		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59949075G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.126C>T	11.37:g.59949075G>A						MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000533023.1_Silent_p.H42H	p.H42H			Q9H2W1	M4A6A_HUMAN			2	266	-			42					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	c.126C>T	CCDS7981.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	3.044	-0.196825	0.06259	.	.	ENSG00000110077	ENST00000533989	.	.	.	4.72	-0.287	0.12858	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27331	-1.0077	4	.	.	.	.	5.8555	0.18716	0.0:0.5893:0.1483:0.2625	.	.	.	.	M	22	.	.	T	-	2	0	MS4A6A	59705651	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.222000	0.09958	-0.724000	0.03597	ACG		0.468	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			21	58	0	0	0	1	0	21	58					A	59949075	G	A	59949075	2	1	460	1	0	0	0	0	0	0	0	1	9864	1136	40	1		1	MS4A6A	11	59949075	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	55045231	59949075	75057441	38	38278											
ANO1	55107	broad.mit.edu	37	chr11	70011580	70011580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctctgtccacagtgtgCgccagggggctgcctgatgg	15	12	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:70011580C>T	ENST00000355303.5	+	20	2260	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000538023.1_Missense_Mutation_p.A652V|ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	652					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCACAGTGTGCGCCAGGGGGC	0.607																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1954-1956)gCg>gTg		anoctamin 1, calcium activated chloride channel							33	34	34					11																	70011580		2114	4235	6349	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70011580C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1955C>T	11.37:g.70011580C>T	ENSP00000347454:p.Ala652Val					ANO1_ENST00000538023.1_Missense_Mutation_p.A652V|ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V	p.A652V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			20	2260	+			652					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1955C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091060	0.55968	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.73	3.73	0.42828	.	0.125565	0.53938	D	0.000057	T	0.74779	0.3761	M	0.72624	2.21	0.80722	D	1	P;D	0.67145	0.941;0.996	P;P	0.61477	0.529;0.889	T	0.77539	-0.2550	9	.	.	.	.	15.913	0.79485	0.0:1.0:0.0:0.0	.	361;652	E9PNA7;Q5XXA6	.;ANO1_HUMAN	V	652;652;506;410;506;361	ENSP00000347454:A652V;ENSP00000444689:A652V;ENSP00000381551:A506V;ENSP00000435797:A506V;ENSP00000432843:A361V	.	A	+	2	0	ANO1	69689228	1.000000	0.71417	0.639000	0.29394	0.038000	0.13279	7.527000	0.81931	1.822000	0.53115	0.561000	0.74099	GCG		0.607	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	2	0	0	0	1	0	6	2					T	70011580	C	T	70011580	3	4	460	1	0	0	0	0	1	0	0	0	695	768	27	1	2033	1	ANO1	11	70011580	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	10062505	70011580	64994936	39	38279											
WNK1	65125	broad.mit.edu	37	chr12	978106	978106	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacctccccctacagggGgagcagctgcaccttttggc	11	15	1	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:978106G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G371R|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000537687.1_Missense_Mutation_p.G1072R	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)			CCCTACAGGGGGAGCAGCTGC	0.502																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				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						c.(3214-3216)Gga>Aga		WNK lysine deficient protein kinase 1							202	197	198					12																	978106		1899	4118	6017	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:978106G>A	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.2140-2325G>A	12.37:g.978106G>A						WNK1_ENST00000574564.1_Missense_Mutation_p.G371R|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron	p.G1072R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	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)		9	3857	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		822					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3214G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276160	0.59649	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.12255	2.7;2.7	6.03	6.03	0.97812	.	.	.	.	.	T	0.41949	0.1181	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.09907	-1.0653	8	0.59425	D	0.04	.	18.7558	0.91832	0.0:0.0:1.0:0.0	.	1157	F5H2M7	.	R	1072;1157	ENSP00000444465:G1072R;ENSP00000433548:G1157R	ENSP00000433548:G1157R	G	+	1	0	WNK1	848367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.802000	0.47916	2.868000	0.98415	0.557000	0.71058	GGA		0.502	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		44	167	0	0	0	1	0	44	167					A	978106	G	A	978106	1	1	460	0	1	0	0	0	0	0	0	0	17374	1233	43	2		2	WNK1	12	978106	Intron	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		978106	132873789	40	38280											
TAS2R31	259290	broad.mit.edu	37	chr12	11183917	11183917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacactggaaaaaatgatGggtataaaagttgtcatgtc	9	6	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:11183917G>A	ENST00000390675.2	-	1	89	c.18C>T	c.(16-18)ccC>ccT	p.P6P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	6					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						AAAAAATGATGGGTATAAAAG	0.403																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(16-18)ccC>ccT		taste receptor, type 2, member 31							35	35	35					12																	11183917		1865	4113	5978	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183917G>A	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.18C>T	12.37:g.11183917G>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.P6P	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	89	-			6					P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.18C>T	CCDS53747.1																																																																																				0.403	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		6	34	0	0	0	1	0	6	34					A	11183917	G	A	11183917	2	1	460	1	0	0	0	0	0	0	0	1	15571	1335	47	2		2	TAS2R31	12	11183917	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	10205811	11183917	122667978	41	38281											
GRIN2B	2904	broad.mit.edu	37	chr12	13717356	13717356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagaatgcgtgaagctgCggcggtgctctgagatgtca	15	8	3	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:13717356C>T	ENST00000609686.1	-	13	3025	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	939					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|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 membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGTGAAGCTGCGGCGGTGCTC	0.542																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2815-2817)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						187	172	177					12																	13717356		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717356C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2816G>A	12.37:g.13717356C>T	ENSP00000477455:p.Arg939His						p.R939H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3025	-			939					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2816G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612549	0.66672	.	.	ENSG00000150086	ENST00000279593	T	0.15256	2.44	5.58	5.58	0.84498	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02059	-1.1221	10	0.44086	T	0.13	.	19.185	0.93639	0.0:1.0:0.0:0.0	.	939	Q13224	NMDE2_HUMAN	H	939	ENSP00000279593:R939H	ENSP00000279593:R939H	R	-	2	0	GRIN2B	13608623	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	7.813000	0.86123	2.638000	0.89438	0.655000	0.94253	CGC		0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			32	105	0	0	0	1	0	32	105					T	13717356	C	T	13717356	3	4	460	1	0	0	0	0	1	0	0	0	6780	768	27	1	1642	1	GRIN2B	12	13717356	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2533439	13717356	120134539	42	38282											
COL2A1	1280	broad.mit.edu	37	chr12	48377906	48377906	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcacctgtctcaccAtctttgccaggaagacccta	7	16	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:48377906A>G	ENST00000380518.3	-	29	2069	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D566D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	635	Triple-helical region.				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)	CTGTCTCACCATCTTTGCCAG	0.592																																						ENST00000380518.3																			0				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						c.(1903-1905)gaT>gaC		collagen, type II, alpha 1	Collagenase(DB00048)						44	37	39					12																	48377906		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48377906A>G	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.1905T>C	12.37:g.48377906A>G						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D566D	p.D635D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			29	2069	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	635			Triple-helical region.		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	ENST00000380518.3	37	c.1905T>C	CCDS41778.1																																																																																				0.592	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		7	9	0	0	0	1	0	7	9					G	48377906	A	G	48377906	2	3	460	1	0	0	0	0	0	0	0	1	3687	214	8	3		3	COL2A1	12	48377906	Silent	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	34660550	48377906	85473989	43	38283											
MTUS2	23281	broad.mit.edu	37	chr13	29599192	29599192	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagtggagagaggcacagaTagcctgcagaccacgcggag	15	10	0	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr13:29599192T>A	ENST00000431530.3	+	1	445	c.387T>A	c.(385-387)gaT>gaA	p.D129E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	119						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						GAGGCACAGATAGCCTGCAGA	0.507																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(385-387)gaT>gaA		microtubule associated tumor suppressor candidate 2							97	97	97					13																	29599192		2049	4201	6250	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599192T>A	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.387T>A	13.37:g.29599192T>A	ENSP00000392057:p.Asp129Glu						p.D129E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	445	+			119					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.387T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	11.23	1.577827	0.28180	.	.	ENSG00000132938	ENST00000431530	T	0.12255	2.7	4.97	-2.08	0.07254	.	0.577685	0.14959	N	0.288451	T	0.07052	0.0179	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.33369	-0.9871	9	.	.	.	.	1.6626	0.02795	0.1301:0.2928:0.1352:0.442	.	119	Q5JR59	MTUS2_HUMAN	E	129	ENSP00000392057:D129E	.	D	+	3	2	MTUS2	28497192	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.560000	0.05964	-0.481000	0.06792	-0.258000	0.10820	GAT		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	45	0	0	0	1	0	7	45					A	29599192	T	A	29599192	3	1	460	1	0	0	0	0	1	0	0	0	9966	1403	49	5	389	5	MTUS2	13	29599192	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		29599192	85570686	44	38284											
IRF9	10379	broad.mit.edu	37	chr14	24634044	24634044	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccccgaggcctcttcgtgCagcgcctttgccccatcccc	8	21	1	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:24634044C>T	ENST00000396864.3	+	7	1158	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	291					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)		CCTCTTCGTGCAGCGCCTTTG	0.672																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(871-873)Cag>Tag		interferon regulatory factor 9							65	64	64					14																	24634044		2203	4300	6503	SO:0001587	stop_gained	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24634044C>T	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.871C>T	14.37:g.24634044C>T	ENSP00000380073:p.Gln291*					RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*	p.Q291*	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	7	1158	+			291					D3DS61	Nonsense_Mutation	SNP	ENST00000396864.3	37	c.871C>T	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.548649	0.97654	.	.	ENSG00000213928	ENST00000396864	.	.	.	5.71	3.84	0.44239	.	0.169699	0.38111	U	0.001804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-16.4989	9.2894	0.37778	0.1645:0.6771:0.1583:0.0	.	.	.	.	X	291	.	ENSP00000380073:Q291X	Q	+	1	0	IRF9	23703884	1.000000	0.71417	0.712000	0.30502	0.995000	0.86356	1.752000	0.38349	0.718000	0.32166	0.462000	0.41574	CAG		0.672	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			20	86	0	0	0	1	0	20	86					T	24634044	C	T	24634044	4	4	460	1	0	0	0	0	0	1	0	0	7837	711	25	2	893	2	IRF9	14	24634044	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		24634044	82715496	45	38285											
AHNAK2	113146	broad.mit.edu	37	chr14	105418755	105418755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggacttccctggggcCgataccccgaacgacggcat	12	13	0	1	rs368288854		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:105418755C>T	ENST00000333244.5	-	7	3152	c.3033G>A	c.(3031-3033)tcG>tcA	p.S1011S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1011						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)			TCCCTGGGGCCGATACCCCGA	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3031-3033)tcG>tcA		AHNAK nucleoprotein 2		C		0,3952		0,0,1976	222	239	233		3033	-7.4	0	14		233	1,8357		0,1,4178	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6154	TT,TC,CC		0.012,0.0,0.0081		1011/5796	105418755	1,12309	1976	4179	6155	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418755C>T	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.3033G>A	14.37:g.105418755C>T						AHNAK2_ENST00000557457.1_Intron	p.S1011S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3152	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1011					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3033G>A	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		131	146	0	0	0	1	0	131	146					T	105418755	C	T	105418755	2	4	460	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105418755	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	80784711	105418755	1930785	46	38286											
AP4E1	23431	broad.mit.edu	37	chr15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcgtcaatttggtcgGcaaaatagcagagctggctg	12	8	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1291-1293)gGc>gAc		adaptor-related protein complex 4, epsilon 1 subunit							105	102	103					15																	51240332		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51240332G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1292G>A	15.37:g.51240332G>A	ENSP00000261842:p.Gly431Asp					AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	p.G431D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	11	1398	+			431					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1292G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144876	0.77888	.	.	ENSG00000081014	ENST00000261842	T	0.23552	1.9	5.78	5.78	0.91487	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.413135	0.27567	N	0.018787	T	0.45617	0.1351	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.06320	-1.0833	10	0.25751	T	0.34	1.9094	19.0086	0.92863	0.0:0.0:1.0:0.0	.	431	Q9UPM8	AP4E1_HUMAN	D	431	ENSP00000261842:G431D	ENSP00000261842:G431D	G	+	2	0	AP4E1	49027624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.729000	0.93468	0.650000	0.86243	GGC		0.338	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			3	50	0	0	0	1	0	3	50					A	51240332	G	A	51240332	3	1	460	1	0	0	0	0	1	0	0	0	752	1203	42	2	1334	2	AP4E1	15	51240332	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		51240332	51291060	47	38287											
MNS1	55329	broad.mit.edu	37	chr15	56721344	56721344	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttgttgatatactttcctGaactcttcaccaagcagatc	5	11	2	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:56721344G>A	ENST00000260453.3	-	10	1607	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_5'UTR	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	481					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ATACTTTCCTGAACTCTTCAC	0.323																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1441-1443)ttC>ttT		meiosis-specific nuclear structural 1							111	103	105					15																	56721344		2191	4284	6475	SO:0001819	synonymous_variant	55329				meiosis			g.chr15:56721344G>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1443C>T	15.37:g.56721344G>A						TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_5'UTR	p.F481F	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	10	1607	-			481					Q8IYT6|Q9NUP4	Silent	SNP	ENST00000260453.3	37	c.1443C>T	CCDS10158.1																																																																																				0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		8	28	0	0	0	1	0	8	28					A	56721344	G	A	56721344	2	1	460	1	0	0	0	0	0	0	0	1	9677	1281	45	2		2	MNS1	15	56721344	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	5481012	56721344	45810048	48	38288											
ABCC1	4363	broad.mit.edu	37	chr16	16150051	16150051	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cctgggagctggcattcaagGacaaggtgctggccatcagg	15	10	2	0	rs72547522		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:16150051G>C	ENST00000399410.3	+	12	1751	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ABCC1_ENST00000399408.2_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H|ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	526	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|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)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGCATTCAAGGACAAGGTGCT	0.532																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1576-1578)Gac>Cac		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						89	93	92					16																	16150051		2066	4205	6271	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16150051G>C	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1576G>C	16.37:g.16150051G>C	ENSP00000382342:p.Asp526His					ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000399410.3_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H|ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H	p.D526H			P33527	MRP1_HUMAN			12	1751	+			526			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1576G>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993345	0.74703	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.29	3.31	0.37934	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.397843	0.31061	N	0.008332	D	0.89876	0.6842	L	0.47078	1.49	0.38732	D	0.953699	P;B;P;P;P;B;P	0.47409	0.731;0.429;0.488;0.813;0.895;0.284;0.534	B;B;P;P;P;P;P	0.52267	0.256;0.256;0.521;0.694;0.652;0.629;0.495	D	0.90260	0.4300	10	0.66056	D	0.02	-17.3801	9.6635	0.39969	0.0772:0.1433:0.7795:0.0	.	526;526;526;526;526;526;526	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	H	526;526;526;526;526;526;200	ENSP00000382342:D526H;ENSP00000382340:D526H;ENSP00000263019:D526H;ENSP00000263017:D526H;ENSP00000263014:D526H;ENSP00000263016:D526H	ENSP00000263014:D526H	D	+	1	0	ABCC1	16057552	1.000000	0.71417	0.938000	0.37757	0.951000	0.60555	7.603000	0.82811	1.205000	0.43262	0.462000	0.41574	GAC		0.532	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		22	30	0	0	0	1	0	22	30					C	16150051	G	C	16150051	3	2	460	1	0	0	0	0	1	0	0	0	49	1174	41	4	1622	4	ABCC1	16	16150051	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		16150051	74204702	49	38289											
FANCA	2175	broad.mit.edu	37	chr16	89813023	89813023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaattaaggggcatttcGtctggcacttggccagtatg	11	8	2	0	rs142833057	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:89813023G>A	ENST00000389301.3	-	35	3512	c.3482C>T	c.(3481-3483)aCg>aTg	p.T1161M	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					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)		p.T1161M(2)		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)		GGGGCATTTCGTCTGGCACTT	0.567			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			2	Substitution - Missense(2)	p.T1161M(2)	lung(1)|endometrium(1)	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						c.(3481-3483)aCg>aTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A		G	MET/THR	0,4396		0,0,2198	89	82	84		3482	3.1	0.1	16	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCA	NM_000135.2	81	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1161/1456	89813023	1,12995	2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89813023G>A	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.3482C>T	16.37:g.89813023G>A	ENSP00000373952:p.Thr1161Met					FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	35	3512	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1161					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3482C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618437	0.28801	0.0	1.16E-4	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.85484	-1.99	5.05	3.07	0.35406	.	0.413038	0.22913	N	0.054102	D	0.89966	0.6868	M	0.76002	2.32	0.48901	D	0.999726	B;D;D	0.89917	0.081;1.0;1.0	B;D;D	0.64506	0.013;0.926;0.926	D	0.88801	0.3285	10	0.66056	D	0.02	-9.444	10.0442	0.42177	0.0762:0.1373:0.7865:0.0	.	138;1161;1161	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	M	1161;138	ENSP00000373952:T1161M	ENSP00000306281:T138M	T	-	2	0	FANCA	88340524	0.679000	0.27596	0.134000	0.22075	0.002000	0.02628	1.510000	0.35790	0.525000	0.28522	-0.224000	0.12420	ACG		0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			9	38	0	0	0	1	0	9	38					A	89813023	G	A	89813023	3	1	460	1	0	0	0	0	1	0	0	0	5662	1145	40	1	921	1	FANCA	16	89813023	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	73662972	89813023	541730	50	38290											
CNTROB	116840	broad.mit.edu	37	chr17	7850971	7850971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagatcctggacctgaCggggagggcctcctaaagca	15	10	0	2	rs563111997		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:7850971C>T	ENST00000563694.1	+	14	3001	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	CNTROB_ENST00000380262.3_Silent_p.D692D|CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	692	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGACCTGACGGGGAGGGCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.001					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2074-2076)gaC>gaT		centrobin, centrosomal BRCA2 interacting protein							101	105	103					17																	7850971		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7850971C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2076C>T	17.37:g.7850971C>T						CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.D692D	p.D692D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			14	3001	+		Prostate(122;0.173)	692			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2076C>T	CCDS11126.1																																																																																				0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		50	101	0	0	0	1	0	50	101					T	7850971	C	T	7850971	2	4	460	1	0	0	0	0	0	0	0	1	3651	535	19	1		1	CNTROB	17	7850971	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		7850971	73344239	51	38291											
MYH1	4619	broad.mit.edu	37	chr17	10404812	10404812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctcaatgCgggcctgggaatggtgaaaa	11	13	1	1	rs377745179		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:10404812C>T	ENST00000226207.5	-	27	3447	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1118					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						CTCCTCAATGCGGGCCTGGGA	0.502																																						ENST00000226207.5																			0				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						c.(3352-3354)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							38	40	39					17																	10404812		2203	4298	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404812C>T		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.3353G>A	17.37:g.10404812C>T	ENSP00000226207:p.Arg1118His					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1118H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3447	-			1118					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3353G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879188	0.91740	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.44097	U	0.000488	D	0.92919	0.7747	M	0.90650	3.135	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93648	0.6970	10	0.72032	D	0.01	.	19.7865	0.96442	0.0:1.0:0.0:0.0	.	1118	P12882	MYH1_HUMAN	H	1118	ENSP00000226207:R1118H	ENSP00000226207:R1118H	R	-	2	0	MYH1	10345537	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.895000	0.63214	2.751000	0.94390	0.650000	0.86243	CGC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		18	31	0	0	0	1	0	18	31					T	10404812	C	T	10404812	3	4	460	1	0	0	0	0	1	0	0	0	10029	768	27	1	2522	1	MYH1	17	10404812	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2553841	10404812	70790398	52	38292											
SLC13A2	9058	broad.mit.edu	37	chr17	26817852	26817852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgcaagccagcagcaacGtcgaggagggcagcaacaac	13	13	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:26817852G>A	ENST00000314669.5	+	4	922	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000444914.3_Missense_Mutation_p.V217I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	168					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)			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)	CAGCAGCAACGTCGAGGAGGG	0.597																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(649-651)Gtc>Atc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						67	58	61					17																	26817852		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817852G>A	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.502G>A	17.37:g.26817852G>A	ENSP00000316202:p.Val168Ile					SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V168I	p.V217I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	1069	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		168					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.649G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110561	0.20714	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.70631	-0.19;-0.2;-0.5;-0.5	5.42	-2.85	0.05734	.	1.692810	0.03099	N	0.160855	T	0.66157	0.2761	M	0.63843	1.955	0.09310	N	1	B;B;B;B;B	0.16166	0.009;0.014;0.016;0.007;0.016	B;B;B;B;B	0.18561	0.004;0.022;0.009;0.005;0.009	T	0.42982	-0.9419	10	0.30078	T	0.28	-2.0318	8.1258	0.30997	0.4036:0.1821:0.4143:0.0	.	125;217;124;97;168	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	I	168;217;125;124;97	ENSP00000316202:V168I;ENSP00000392411:V217I;ENSP00000441935:V125I;ENSP00000440802:V97I	ENSP00000316202:V168I	V	+	1	0	SLC13A2	23841979	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.016000	0.13377	-1.239000	0.02532	-2.230000	0.00291	GTC		0.597	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		8	12	0	0	0	1	0	8	12					A	26817852	G	A	26817852	3	1	460	1	0	0	0	0	1	0	0	0	14392	1145	40	1	663	1	SLC13A2	17	26817852	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	16413040	26817852	54377358	53	38293											
GAS2L2	246176	broad.mit.edu	37	chr17	34074958	34074958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtaccatcacatggttccGgaggatctgagggggcaagg	15	9	2	1	rs587627832		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:34074958G>A	ENST00000254466.6	-	4	769	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	248	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				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)		ACATGGTTCCGGAGGATCTGA	0.642											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17393	0.0		0.0	False		,,,				2504	0.001					ENST00000254466.6																			0				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						c.(742-744)Cgg>Tgg		growth arrest-specific 2 like 2							85	64	71					17																	34074958		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074958G>A	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.742C>T	17.37:g.34074958G>A	ENSP00000254466:p.Arg248Trp		OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	p.R248W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	769	-		Ovarian(249;0.17)	248			GAR.		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.742C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425536	0.83667	.	.	ENSG00000132139	ENST00000254466	T	0.27557	1.66	5.92	3.75	0.43078	Growth-arrest-specific protein 2 domain (4);	0.000000	0.64402	D	0.000001	T	0.63792	0.2541	M	0.91717	3.235	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	T	0.75722	-0.3218	10	0.87932	D	0	-33.878	15.9855	0.80147	0.0:0.0:0.7445:0.2555	.	248	Q8NHY3	GA2L2_HUMAN	W	248	ENSP00000254466:R248W	ENSP00000254466:R248W	R	-	1	2	GAS2L2	31099071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.857000	0.48349	1.491000	0.48482	0.655000	0.94253	CGG		0.642	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		5	24	0	0	0	1	0	5	24					A	34074958	G	A	34074958	3	1	460	1	0	0	0	0	1	0	0	0	6247	1115	39	1	1912	1	GAS2L2	17	34074958	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	7257106	34074958	47120252	54	38294											
TNS4	84951	broad.mit.edu	37	chr17	38645139	38645139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgaagggagccgaagggCggggtgacagaggggctgga	22	7	0	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:38645139C>T	ENST00000254051.6	-	3	680	c.522G>A	c.(520-522)ccG>ccA	p.P174P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	174	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)			AGCCGAAGGGCGGGGTGACAG	0.607																																						ENST00000254051.6																			0				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						c.(520-522)ccG>ccA		tensin 4							51	62	58					17																	38645139		2201	4299	6500	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645139C>T	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.522G>A	17.37:g.38645139C>T							p.P174P	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	680	-		Breast(137;0.000496)	174			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.522G>A	CCDS11368.1																																																																																				0.607	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		9	59	0	0	0	1	0	9	59					T	38645139	C	T	38645139	2	4	460	1	0	0	0	0	0	0	0	1	16342	755	27	1		1	TNS4	17	38645139	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	4570181	38645139	42550071	55	38295											
KRT13	3860	broad.mit.edu	37	chr17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	11	16	3	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)Cgc>Tgc		keratin 13							62	62	62					17																	39659673		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659673G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	17.37:g.39659673G>A	ENSP00000246635:p.Arg201Cys					KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C	p.R201C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			3	647	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.601C>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		30	31	0	0	0	1	0	30	31					A	39659673	G	A	39659673	3	1	460	1	0	0	0	0	1	0	0	0	8450	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	1014534	39659673	41535537	56	38296											
NPTX1	4884	broad.mit.edu	37	chr17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcccacacctggcgtggCgctggacttgagccacatgc	13	15	0	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	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)			CCTGGCGTGGCGCTGGACTTG	0.587																																						ENST00000306773.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(787-789)Gcc>Acc		neuronal pentraxin I							201	173	183					17																	78447110		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447110C>T	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.787G>A	17.37:g.78447110C>T	ENSP00000307549:p.Ala263Thr						p.A263T	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		3	944	-	all_neural(118;0.0538)		263			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.787G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046740	0.55110	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06449	3.3	4.27	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.48986	1.54	0.80722	D	1	P	0.49447	0.924	B	0.41374	0.355	T	0.44847	-0.9301	10	0.17369	T	0.5	-21.6173	11.8502	0.52407	0.0:0.9132:0.0:0.0868	.	263	Q15818	NPTX1_HUMAN	T	263;25	ENSP00000307549:A263T	ENSP00000307549:A263T	A	-	1	0	NPTX1	76061705	1.000000	0.71417	0.671000	0.29857	0.545000	0.35147	5.703000	0.68340	1.001000	0.39076	0.511000	0.50034	GCC		0.587	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			24	116	0	0	0	1	0	24	116					T	78447110	C	T	78447110	3	4	460	1	0	0	0	0	1	0	0	0	10602	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	38787437	78447110	2748100	57	38297											
ACAA2	10449	broad.mit.edu	37	chr18	47329202	47329202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctccaaagggcgttcgcTtagcagcaactacaaacaca	8	12	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr18:47329202T>C	ENST00000285093.10	-	2	513	c.38A>G	c.(37-39)aAg>aGg	p.K13R	ACAA2_ENST00000589432.1_5'UTR|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	13					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						GGGCGTTCGCTTAGCAGCAAC	0.448																																						ENST00000285093.10																			0				large_intestine(2)|lung(7)|ovary(1)	10						c.(37-39)aAg>aGg		acetyl-CoA acyltransferase 2							98	90	93					18																	47329202		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47329202T>C	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.38A>G	18.37:g.47329202T>C	ENSP00000285093:p.Lys13Arg					RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	p.K13R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN			2	513	-			13					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.38A>G	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712669	0.89112	.	.	ENSG00000167315	ENST00000285093	D	0.94417	-3.42	5.64	5.64	0.86602	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	M	0.64630	1.985	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.968	D	0.96359	0.9264	10	0.49607	T	0.09	-24.1257	15.535	0.75996	0.0:0.0:0.0:1.0	.	13;13	B2RB23;P42765	.;THIM_HUMAN	R	13	ENSP00000285093:K13R	ENSP00000285093:K13R	K	-	2	0	ACAA2	45583200	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.911000	0.87458	2.149000	0.67028	0.533000	0.62120	AAG		0.448	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		30	26	0	0	0	1	0	30	26					C	47329202	T	C	47329202	3	2	460	1	0	0	0	0	1	0	0	0	105	1609	56	3	1191	3	ACAA2	18	47329202	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		47329202	30748046	58	38298											
THOP1	7064	broad.mit.edu	37	chr19	2808387	2808387	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgctgcagcatgacgAggtggagacctacttccatg	12	12	0	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:2808387A>G	ENST00000307741.6	+	9	1603	c.1400A>G	c.(1399-1401)gAg>gGg	p.E467G	THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.E346G	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	467					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CAGCATGACGAGGTGGAGACC	0.692																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1399-1401)gAg>gGg		thimet oligopeptidase 1							38	27	31					19																	2808387		2198	4297	6495	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2808387A>G		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1400A>G	19.37:g.2808387A>G	ENSP00000304467:p.Glu467Gly					THOP1_ENST00000586677.1_Missense_Mutation_p.E346G|THOP1_ENST00000591149.1_3'UTR	p.E467G	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		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)	9	1603	+			467					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1400A>G	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	a	26.6	4.754968	0.89843	.	.	ENSG00000172009	ENST00000307741	T	0.08984	3.03	4.48	4.48	0.54585	Metallopeptidase, catalytic domain (1);	0.103024	0.64402	D	0.000005	T	0.38295	0.1035	H	0.98542	4.26	0.80722	D	1	P;P	0.50617	0.937;0.937	P;P	0.54965	0.765;0.765	T	0.60571	-0.7237	10	0.87932	D	0	-45.6324	12.7833	0.57489	1.0:0.0:0.0:0.0	.	346;467	B4DU96;P52888	.;THOP1_HUMAN	G	467	ENSP00000304467:E467G	ENSP00000304467:E467G	E	+	2	0	THOP1	2759387	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.464000	0.90380	1.886000	0.54624	0.525000	0.51046	GAG		0.692	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			9	17	0	0	0	1	0	9	17					G	2808387	A	G	2808387	3	3	460	1	0	0	0	0	1	0	0	0	15868	304	11	3	1434	3	THOP1	19	2808387	Missense_Mutation	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08		2808387	56320596	59	38299											
TNFSF14	8740	broad.mit.edu	37	chr19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggtaccatcacgcagtcGaaccaggcgttcatccagca	10	15	2	0	rs371136658		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:6664984G>A	ENST00000599359.1	-	5	1057	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*|TNFSF14_ENST00000326176.9_Nonsense_Mutation_p.R190*			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(568-570)Cga>Tga		tumor necrosis factor (ligand) superfamily, member 14							192	158	170					19																	6664984		2203	4300	6503	SO:0001587	stop_gained	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664984G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.676C>T	19.37:g.6664984G>A	ENSP00000469049:p.Arg226*					TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*|TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*	p.R190*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	949	-			226					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Nonsense_Mutation	SNP	ENST00000599359.1	37	c.568C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413213	0.83449	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	.	.	.	4.46	2.13	0.27403	.	0.500940	0.17136	N	0.185647	.	.	.	.	.	.	0.49299	D	0.999773	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-1.0767	12.245	0.54566	0.0:0.0:0.64:0.36	.	.	.	.	X	226;190	.	ENSP00000245912:R226X	R	-	1	2	TNFSF14	6615984	0.005000	0.15991	0.005000	0.12908	0.041000	0.13682	0.362000	0.20284	0.807000	0.34208	0.561000	0.74099	CGA		0.602	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			56	133	0	0	0	1	0	56	133					A	6664984	G	A	6664984	4	1	460	1	0	0	0	0	0	1	0	0	16304	1066	37	1	50	1	TNFSF14	19	6664984	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	3856597	6664984	52463999	60	38300											
SMARCA4	6597	broad.mit.edu	37	chr19	11170533	11170533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtgaggaggaggaagaGggcgaggaggaaggctccga	22	4	0	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:11170533G>A	ENST00000429416.3	+	34	5021	c.4740G>A	c.(4738-4740)gaG>gaA	p.E1580E	SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000358026.2_Silent_p.E1612E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000589677.1_Silent_p.E1549E|SMARCA4_ENST00000450717.3_Silent_p.E1549E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1580	Poly-Glu.				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)				aggaggaagagggcgaggagg	0.612			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(4834-4836)gaG>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							48	44	46					19																	11170533		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170533G>A	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.4740G>A	19.37:g.11170533G>A						SMARCA4_ENST00000429416.3_Silent_p.E1580E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000450717.3_Silent_p.E1549E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000589677.1_Silent_p.E1549E	p.E1612E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			34	5120	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1580					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4836G>A	CCDS12253.1																																																																																				0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	28	0	0	0	1	0	8	28					A	11170533	G	A	11170533	2	1	460	1	0	0	0	0	0	0	0	1	14770	991	35	2		2	SMARCA4	19	11170533	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	4505549	11170533	47958450	61	38301											
PBX4	80714	broad.mit.edu	37	chr19	19675808	19675808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttccgtggtatccacagCcgttttacccgtgtaaatgg	9	11	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:19675808C>T	ENST00000251203.9	-	6	1145	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	287					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTATCCACAGCCGTTTTACCC	0.527																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(859-861)Gct>Act		pre-B-cell leukemia homeobox 4							292	294	294					19																	19675808		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675808C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.859G>A	19.37:g.19675808C>T	ENSP00000251203:p.Ala287Thr						p.A287T	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1145	-			287					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.859G>A	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335165	0.41398	.	.	ENSG00000105717	ENST00000251203	D	0.91237	-2.81	3.67	1.31	0.21738	.	0.225560	0.36778	N	0.002418	D	0.88112	0.6349	M	0.77103	2.36	0.51767	D	0.999934	B	0.33826	0.427	B	0.32211	0.142	T	0.82908	-0.0224	10	0.45353	T	0.12	-13.4261	9.3346	0.38043	0.401:0.599:0.0:0.0	.	287	Q9BYU1	PBX4_HUMAN	T	287	ENSP00000251203:A287T	ENSP00000251203:A287T	A	-	1	0	PBX4	19536808	0.643000	0.27269	0.001000	0.08648	0.013000	0.08279	1.308000	0.33528	0.174000	0.19809	0.505000	0.49811	GCT		0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			57	382	0	0	0	1	0	57	382					T	19675808	C	T	19675808	3	4	460	1	0	0	0	0	1	0	0	0	11495	739	26	2	277	2	PBX4	19	19675808	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	8505275	19675808	39453175	62	38302											
ATP1A3	478	broad.mit.edu	37	chr19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgctcaatctcgatggCgatgggcgtcttgcccacct	12	12	3	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:42489240C>T	ENST00000302102.5	-	8	973	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000545399.1_Missense_Mutation_p.A288T|ATP1A3_ENST00000468774.2_5'Flank	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					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						ATCTCGATGGCGATGGGCGTC	0.632																																						ENST00000545399.1																			0				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						c.(862-864)Gcc>Acc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							121	94	103					19																	42489240		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489240C>T		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.823G>A	19.37:g.42489240C>T	ENSP00000302397:p.Ala275Thr					ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A275T	p.A288T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			8	1015	-			275					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.862G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836493	0.91117	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.28	4.28	0.50868	ATPase, P-type, ATPase-associated domain (1);	0.124291	0.53938	D	0.000052	D	0.91250	0.7242	L	0.45137	1.4	0.80722	D	1	P;D;D;D	0.63880	0.942;0.972;0.993;0.977	P;P;D;P	0.65773	0.647;0.782;0.938;0.861	D	0.92120	0.5703	10	0.66056	D	0.02	.	14.613	0.68529	0.0:1.0:0.0:0.0	.	288;286;275;275	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	275;275;288;245;19;286	ENSP00000302397:A275T;ENSP00000411503:A275T;ENSP00000444688:A288T;ENSP00000437577:A286T	ENSP00000302397:A275T	A	-	1	0	ATP1A3	47181080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.982000	0.70532	2.126000	0.65437	0.491000	0.48974	GCC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		9	17	0	0	0	1	0	9	17					T	42489240	C	T	42489240	3	4	460	1	0	0	0	0	1	0	0	0	1130	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	22813432	42489240	16639743	63	38303											
SYMPK	8189	broad.mit.edu	37	chr19	46351096	46351096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatctctgagtcagccatgCggggtgacagggtgacaatg	15	8	2	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:46351096C>T	ENST00000245934.7	-	7	834	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	197					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)		GTCAGCCATGCGGGGTGACAG	0.577																																						ENST00000245934.7																			0				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						c.(589-591)cGc>cAc		symplekin							104	87	93					19																	46351096		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351096C>T	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.590G>A	19.37:g.46351096C>T	ENSP00000245934:p.Arg197His						p.R197H	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	834	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	197					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.590G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939173	0.92526	.	.	ENSG00000125755	ENST00000245934	T	0.33438	1.41	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.83275	0.805;0.996	T	0.36286	-0.9754	10	0.46703	T	0.11	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	212;197	Q4LE61;Q92797	.;SYMPK_HUMAN	H	197	ENSP00000245934:R197H	ENSP00000245934:R197H	R	-	2	0	SYMPK	51042936	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.170000	0.77587	2.854000	0.98071	0.655000	0.94253	CGC		0.577	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		3	44	0	0	0	1	0	3	44					T	46351096	C	T	46351096	3	4	460	1	0	0	0	0	1	0	0	0	15436	768	27	1	3318	1	SYMPK	19	46351096	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	3861856	46351096	12777887	64	38304											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686553	3686553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgttgaaggtgacagagcGagcagggtcctggccttgcc	16	10	0	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:3686553G>A	ENST00000344754.4	-	3	543	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	182	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGACAGAGCGAGCAGGGTCC	0.627																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(544-546)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin							106	96	100					20																	3686553		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686553G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "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"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.544C>T	20.37:g.3686553G>A	ENSP00000341141:p.Arg182Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			3	543	-			182			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.544C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630361	0.46944	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.75938	-0.98;-0.98	4.68	4.68	0.58851	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.572660	0.14752	N	0.300522	T	0.82171	0.4979	M	0.67953	2.075	0.20074	N	0.999931	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.65773	0.899;0.938;0.897	T	0.71738	-0.4502	10	0.42905	T	0.14	.	10.2219	0.43203	0.0:0.0:0.8022:0.1978	.	182;182;182	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	C	182	ENSP00000341141:R182C;ENSP00000202578:R182C	ENSP00000202578:R182C	R	-	1	0	SIGLEC1	3634553	0.006000	0.16342	0.364000	0.25888	0.524000	0.34500	1.696000	0.37773	2.435000	0.82474	0.462000	0.41574	CGC		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		18	83	0	0	0	1	0	18	83					A	3686553	G	A	3686553	3	1	460	1	0	0	0	0	1	0	0	0	14305	1058	37	1	4661	1	SIGLEC1	20	3686553	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		3686553	59338967	65	38305											
SEMG1	6406	broad.mit.edu	37	chr20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaatgccctacataagaCgacaaaatcacaacgacatc	5	11	1	2	rs199781597		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	93	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(277-279)aCg>aTg		semenogelin I		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	154	134	141		278	-0.2	0	20		141	0,8600		0,0,4300	yes	missense	SEMG1	NM_003007.3	81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		93/463	43836216	2,13004	2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836216C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.278C>T	20.37:g.43836216C>T	ENSP00000361867:p.Thr93Met					SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	p.T93M	NM_003007.3	NP_002998.1					2	335	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.278C>T	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766462	0.02974	4.54E-4	0.0	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08984	3.03;3.03	1.07	-0.159	0.13379	.	.	.	.	.	T	0.12860	0.0312	L	0.36672	1.1	0.09310	N	1	B;D;P	0.89917	0.421;1.0;0.537	B;D;B	0.73708	0.05;0.981;0.113	T	0.25363	-1.0134	9	0.26408	T	0.33	.	2.9559	0.05876	0.0:0.3585:0.0:0.6415	.	93;93;93	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	M	93	ENSP00000244069:T93M;ENSP00000361867:T93M	ENSP00000244069:T93M	T	+	2	0	SEMG1	43269630	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.915000	0.04033	-0.080000	0.12685	-0.484000	0.04775	ACG		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		18	76	0	0	0	1	0	18	76					T	43836216	C	T	43836216	3	4	460	1	0	0	0	0	1	0	0	0	14044	536	19	1	284	1	SEMG1	20	43836216	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	40149663	43836216	19189304	66	38306											
MED15	51586	broad.mit.edu	37	chr22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctaccaccgctgtgtccGccatcccgtcaagctccatc	7	20	1	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000541476.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1225-1227)Gcc>Acc		mediator complex subunit 15							97	83	88					22																	20929472		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929472G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1225G>A	22.37:g.20929472G>A	ENSP00000263205:p.Ala409Thr					MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000382974.2_Intron	p.A409T	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1294	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	409			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1225G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303636	0.40795	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.07	0.676	0.17958	Mediator complex, subunit Med15, metazoa (1);	0.517876	0.21015	N	0.081610	T	0.38692	0.1050	L	0.34521	1.04	0.54753	D	0.999983	B;B	0.18863	0.031;0.024	B;B	0.13407	0.009;0.006	T	0.10753	-1.0616	9	0.13853	T	0.58	.	8.6722	0.34156	0.3286:0.0:0.6714:0.0	.	355;409	B4DGD6;Q96RN5	.;MED15_HUMAN	T	409;355	.	ENSP00000263205:A409T	A	+	1	0	MED15	19259472	0.964000	0.33143	0.074000	0.20217	0.659000	0.38960	1.682000	0.37628	0.565000	0.29255	-0.918000	0.02743	GCC		0.622	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		4	95	0	0	0	1	0	4	95					A	20929472	G	A	20929472	3	1	460	1	0	0	0	0	1	0	0	0	9433	1087	38	1	1259	1	MED15	22	20929472	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		20929472	30375094	67	38307											
MAP7D2	256714	broad.mit.edu	37	chrX	20033363	20033363	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctccagtctctccTgctcaatctgcagcataatc	4	15	5	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:20033363T>G	ENST00000379651.3	-	11	1622	c.1604A>C	c.(1603-1605)cAg>cCg	p.Q535P	MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	535					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						CAGTCTCTCCTGCTCAATCTG	0.473																																						ENST00000379651.3																			0				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						c.(1603-1605)cAg>cCg		MAP7 domain containing 2							183	139	154					X																	20033363		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20033363T>G	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.1604A>C	X.37:g.20033363T>G	ENSP00000368972:p.Gln535Pro					MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P	p.Q535P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			11	1622	-			535					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1604A>C	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066475	0.76187	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.6	4.43	0.53597	.	0.085134	0.49916	D	0.000127	T	0.63212	0.2492	M	0.88450	2.955	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.995;0.991;0.991;0.991;0.992	T	0.70107	-0.4963	10	0.87932	D	0	-10.6947	10.9261	0.47191	0.0:0.0759:0.0:0.9241	.	490;483;576;535;420	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	P	535;576;420;490;218;483	ENSP00000368972:Q535P;ENSP00000368964:Q576P;ENSP00000440691:Q420P;ENSP00000388239:Q490P;ENSP00000413301:Q483P	ENSP00000368964:Q576P	Q	-	2	0	MAP7D2	19943284	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.159000	0.64923	1.880000	0.54463	0.413000	0.27773	CAG		0.473	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		9	64	0	0	0	1	0	9	64					G	20033363	T	G	20033363	3	3	460	1	0	0	0	0	1	0	0	0	9268	1580	55	5	614	5	MAP7D2	23	20033363	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		20033363	135237197	68	38308											
MED12	9968	broad.mit.edu	37	chrX	70352986	70352986	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctagattgtgaataattGgcgagatgaccagtacttag	10	5	1	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:70352986G>A	ENST00000374080.3	+	33	4573	c.4541G>A	c.(4540-4542)tGg>tAg	p.W1514*	MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000333646.6_Nonsense_Mutation_p.W1514*			Q93074	MED12_HUMAN	mediator complex subunit 12	1514					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGAATAATTGGCGAGATGAC	0.438			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4540-4542)tGg>tAg		mediator complex subunit 12							109	99	102					X																	70352986		1936	4125	6061	SO:0001587	stop_gained	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70352986G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4541G>A	X.37:g.70352986G>A	ENSP00000363193:p.Trp1514*					MED12_ENST00000374080.3_Nonsense_Mutation_p.W1514*|MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000478889.1_Intron	p.W1514*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			33	4740	+	Renal(35;0.156)		1514					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.4541G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	45	11.760762	0.99599	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-8.1974	16.5733	0.84630	0.0:0.0:1.0:0.0	.	.	.	.	X	1514;1514;1514;1514;1482;259	.	ENSP00000333125:W1514X	W	+	2	0	MED12	70269711	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.343000	0.97047	2.279000	0.76181	0.476000	0.43555	TGG		0.438	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		22	34	0	0	0	1	0	22	34					A	70352986	G	A	70352986	4	1	460	1	0	0	0	0	0	1	0	0	9428	1357	47	2	4671	2	MED12	23	70352986	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	50319623	70352986	84917574	69	38309											
STAG2	10735	broad.mit.edu	37	chrX	123179121	123179121	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggcaatgtcaatatagtatCatatatgatgagtatatgat	8	4	2	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123179121C>T	ENST00000371160.1	+	8	860	c.570C>T	c.(568-570)atC>atT	p.I190I	STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000371157.3_Silent_p.I190I|STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	190					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						AATATAGTATCATATATGATG	0.408																																						ENST00000371160.1																			0				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						c.(568-570)atC>atT		stromal antigen 2							192	181	185					X																	123179121		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179121C>T	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.570C>T	X.37:g.123179121C>T						STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.I190I|STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I	p.I190I			Q8N3U4	STAG2_HUMAN			8	860	+			190					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.570C>T	CCDS14607.1																																																																																				0.408	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		72	90	0	0	0	1	0	72	90					T	123179121	C	T	123179121	2	4	460	1	0	0	0	0	0	0	0	1	15242	816	29	2		2	STAG2	23	123179121	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	52826135	123179121	32091439	70	38310											
STAG2	10735	broad.mit.edu	37	chrX	123227873	123227873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatatttctctagtcggcGtggcacaagcctaatggaag	10	8	1	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123227873G>A	ENST00000371160.1	+	32	3763	c.3473G>A	c.(3472-3474)cGt>cAt	p.R1158H	STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1158					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						TCTAGTCGGCGTGGCACAAGC	0.388																																						ENST00000371160.1																			0				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						c.(3472-3474)cGt>cAt		stromal antigen 2							169	142	151					X																	123227873		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123227873G>A	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.3473G>A	X.37:g.123227873G>A	ENSP00000360202:p.Arg1158His					STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H	p.R1158H			Q8N3U4	STAG2_HUMAN			32	3763	+			1158					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.3473G>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844906	0.91197	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.38722	1.57;1.18;1.12;1.12;1.57;1.12	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.891	T	0.59736	-0.7398	10	0.72032	D	0.01	-7.4976	17.5768	0.87952	0.0:0.0:1.0:0.0	.	1195;1158	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	H	1195;1089;1158;1158;1195;1158	ENSP00000218089:R1195H;ENSP00000346555:R1089H;ENSP00000360202:R1158H;ENSP00000360199:R1158H;ENSP00000360187:R1195H;ENSP00000360186:R1158H	ENSP00000218089:R1195H	R	+	2	0	STAG2	123055554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.166000	0.68216	0.544000	0.68410	CGT		0.388	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		33	60	0	0	0	1	0	33	60					A	123227873	G	A	123227873	3	1	460	1	0	0	0	0	1	0	0	0	15242	1145	40	1	3706	1	STAG2	23	123227873	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	48752	123227873	32042687	71	38311											
ATP11C	286410	broad.mit.edu	37	chrX	138864753	138864753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattcatgtttgtctcaatAtcatcgaaaactttttccat	3	8	3	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:138864753A>G	ENST00000327569.3	-	18	2012	c.1914T>C	c.(1912-1914)gaT>gaC	p.D638D	ATP11C_ENST00000370543.1_Silent_p.D638D|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000361648.2_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Silent_p.D635D	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					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)					TTGTCTCAATATCATCGAAAA	0.333																																						ENST00000370557.1																			0				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						c.(1903-1905)gaT>gaC		ATPase, class VI, type 11C							132	104	114					X																	138864753		2203	4300	6503	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138864753A>G	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.1914T>C	X.37:g.138864753A>G						ATP11C_ENST00000327569.3_Silent_p.D638D|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.D638D|ATP11C_ENST00000361648.2_Silent_p.D638D	p.D635D			Q8NB49	AT11C_HUMAN			18	2932	-	Acute lymphoblastic leukemia(192;0.000127)		638					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.1905T>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	A	9.053	0.992632	0.18966	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.68	-6.18	0.02085	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42732	-0.9434	4	.	.	.	.	1.1854	0.01854	0.2163:0.3362:0.2415:0.2061	.	.	.	.	T	190	.	.	I	-	2	0	ATP11C	138692419	0.835000	0.29415	0.972000	0.41901	0.930000	0.56654	-0.108000	0.10857	-0.750000	0.04740	-0.415000	0.06103	ATA		0.333	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		33	33	0	0	0	1	0	33	33					G	138864753	A	G	138864753	2	3	460	1	0	0	0	0	0	0	0	1	1121	446	16	3		3	ATP11C	23	138864753	Silent	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	15636880	138864753	16405807	72	38312											
MAGEA10	4109	broad.mit.edu	37	chrX	151304073	151304073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggcatgcagcgctgaCgctttggagctcgaggcatg	14	11	1	1	rs145553450	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:151304073C>T	ENST00000370323.4	-	4	336	c.20G>A	c.(19-21)cGt>cAt	p.R7H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	7						nucleus (GO:0005634)		p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGCTGACGCTTTGGAGC	0.602																																						ENST00000370323.4																			1	Substitution - Missense(1)	p.R7H(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(19-21)cGt>cAt		melanoma antigen family A, 10		C	HIS/ARG,,HIS/ARG	0,3833		0,0,0,1631,571	86	88	87		20,,20	0.6	0	X	dbSNP_134	87	1,6725		0,0,1,2428,1869	no	missense,intron,missense	MAGEA10,MAGEA10-MAGEA5	NM_001011543.1,NM_001204811.1,NM_021048.3	29,,29	0,0,1,4059,2440	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,,probably-damaging	7/370,,7/370	151304073	1,10558	2202	4298	6500	SO:0001583	missense	4109							g.chrX:151304073C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.20G>A	X.37:g.151304073C>T	ENSP00000359347:p.Arg7His					MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	p.R7H	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	336	-	Acute lymphoblastic leukemia(192;6.56e-05)		7						Missense_Mutation	SNP	ENST00000370323.4	37	c.20G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	8.597	0.885841	0.17540	0.0	1.49E-4	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	2.54	0.552	0.17230	Melanoma associated antigen, MAGE, N-terminal (1);	4.932270	0.00531	N	0.000218	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.33748	0.423	B	0.26517	0.07	T	0.32161	-0.9917	10	0.56958	D	0.05	.	4.3557	0.11178	0.2587:0.4915:0.2498:0.0	.	7	P43363	MAGAA_HUMAN	H	7	ENSP00000359347:R7H;ENSP00000244096:R7H;ENSP00000406161:R7H;ENSP00000391977:R7H	ENSP00000244096:R7H	R	-	2	0	MAGEA10	151054729	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	0.488000	0.22371	0.035000	0.15519	0.292000	0.19580	CGT		0.602	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		39	50	0	0	0	1	0	39	50					T	151304073	C	T	151304073	3	4	460	1	0	0	0	0	1	0	0	0	9164	536	19	1	1093	1	MAGEA10	23	151304073	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	12439320	151304073	3966487	73	38313											
PLXNB3	5365	broad.mit.edu	37	chrX	153036313	153036313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagccatttggccctacGcgtgcggaaccttcaacatt	11	12	1	1	rs373965130		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:153036313G>A	ENST00000361971.5	+	11	2225	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	PLXNB3_ENST00000538966.1_Missense_Mutation_p.R727H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	704					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)					TTGGCCCTACGCGTGCGGAAC	0.637																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2179-2181)cGc>cAc		plexin B3			HIS/ARG,HIS/ARG	1,3832		0,0,1,1632,568	77	70	73		2111,2180	-1.4	0	X		73	0,6727		0,0,0,2428,1871	no	missense,missense	PLXNB3	NM_005393.2,NM_001163257.1	29,29	0,0,1,4060,2439	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign,benign	704/1910,727/1933	153036313	1,10559	2201	4299	6500	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036313G>A	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.2111G>A	X.37:g.153036313G>A	ENSP00000355378:p.Arg704His					PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R704H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H	p.R727H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			12	2451	+	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)		704					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2180G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	2.323	-0.355127	0.05138	2.61E-4	0.0	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68025	5.24;5.21;4.63;-0.3	5.13	-1.35	0.09114	.	1.671420	0.03122	N	0.163977	T	0.56587	0.1995	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.18310	0.003;0.027;0.011;0.001	B;B;B;B	0.12837	0.002;0.004;0.008;0.002	T	0.31251	-0.9950	10	0.39692	T	0.17	.	5.3371	0.15963	0.5721:0.0:0.2863:0.1416	.	357;386;727;704	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	H	727;704;357;314	ENSP00000442736:R727H;ENSP00000355378:R704H;ENSP00000445569:R357H;ENSP00000441919:R314H	ENSP00000355378:R704H	R	+	2	0	PLXNB3	152689507	0.000000	0.05858	0.008000	0.14137	0.113000	0.19764	-0.085000	0.11250	-0.453000	0.07076	-0.481000	0.04817	CGC		0.637	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			13	64	0	0	0	1	0	13	64					A	153036313	G	A	153036313	3	1	460	1	0	0	0	0	1	0	0	0	12125	1087	38	1	2267	1	PLXNB3	23	153036313	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	1732240	153036313	2234247	74	38314											
AGL	178	broad.mit.edu	37	chr1	100356833	100356833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttggggcatcctttttGtaataatttgagatctggag	11	5	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:100356833G>A	ENST00000294724.4	+	22	3348	c.2870G>A	c.(2869-2871)tGt>tAt	p.C957Y	AGL_ENST00000370165.3_Missense_Mutation_p.C957Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y|AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	957					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATCCTTTTTGTAATAATTTG	0.368																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(2869-2871)tGt>tAt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							105	107	106					1																	100356833		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100356833G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2870G>A	1.37:g.100356833G>A	ENSP00000294724:p.Cys957Tyr					AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000370165.3_Missense_Mutation_p.C957Y|AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y	p.C957Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	22	3348	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	957					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2870G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594114	0.86953	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76626	-0.2890	10	0.87932	D	0	.	19.852	0.96744	0.0:0.0:1.0:0.0	.	940;941;957	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Y	957;957;957;957;941;941;940	ENSP00000355106:C957Y;ENSP00000359184:C957Y;ENSP00000359182:C957Y;ENSP00000294724:C957Y;ENSP00000354971:C941Y;ENSP00000359180:C941Y;ENSP00000354635:C940Y	ENSP00000294724:C957Y	C	+	2	0	AGL	100129421	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.881000	0.92415	2.703000	0.92315	0.579000	0.79373	TGT		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		22	37	0	0	0	1	0	22	37					A	100356833	G	A	100356833	3	1	461	1	0	0	0	0	1	0	0	0	384	1377	48	2	3021	2	AGL	1	100356833	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		100356833	148893788	1	38315											
ADCY10	55811	broad.mit.edu	37	chr1	167802329	167802329	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaagttgtaaggaaagatTcggttgaggagcttcagtgc	13	4	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:167802329T>G	ENST00000367851.4	-	25	3673	c.3489A>C	c.(3487-3489)cgA>cgC	p.R1163R	ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000367848.1_Silent_p.R1071R	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					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						AAGGAAAGATTCGGTTGAGGA	0.473																																						ENST00000367848.1																			0				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						c.(3211-3213)cgA>cgC		adenylate cyclase 10 (soluble)							275	282	280					1																	167802329		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802329T>G	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.3489A>C	1.37:g.167802329T>G						ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.R1163R	p.R1071R			Q96PN6	ADCYA_HUMAN			25	3710	-			1163					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.3213A>C	CCDS1265.1																																																																																				0.473	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		117	187	0	0	0	1	0	117	187					G	167802329	T	G	167802329	2	3	461	1	0	0	0	0	0	0	0	1	293	1770	62	5		5	ADCY10	1	167802329	Silent	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	67445496	167802329	81448292	2	38316											
REL	5966	broad.mit.edu	37	chr2	61149557	61149557	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgagtcgggaccatcaaacAgtactaatccaaacagtcat	7	10	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:61149557A>T	ENST00000295025.8	+	11	2067	c.1747A>T	c.(1747-1749)Agt>Tgt	p.S583C	REL_ENST00000394479.3_Missense_Mutation_p.S551C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	583					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)			ACCATCAAACAGTACTAATCC	0.373			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1747-1749)Agt>Tgt		v-rel avian reticuloendotheliosis viral oncogene homolog							87	81	83					2																	61149557		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149557A>T	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.1747A>T	2.37:g.61149557A>T	ENSP00000295025:p.Ser583Cys					REL_ENST00000394479.3_Missense_Mutation_p.S551C	p.S583C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	2067	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	583					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1747A>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466275	0.26335	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.46451	0.87;0.87	5.74	-6.37	0.01963	.	1.087620	0.07186	N	0.854841	T	0.22166	0.0534	N	0.19112	0.55	0.09310	N	1	P;D	0.55800	0.953;0.973	B;B	0.43754	0.315;0.43	T	0.20672	-1.0268	10	0.54805	T	0.06	-14.0587	2.0655	0.03601	0.5528:0.1052:0.1306:0.2114	.	551;583	Q17RU2;Q04864	.;REL_HUMAN	C	583;551	ENSP00000295025:S583C;ENSP00000377989:S551C	ENSP00000295025:S583C	S	+	1	0	REL	61003061	0.000000	0.05858	0.000000	0.03702	0.216000	0.24613	0.147000	0.16202	-0.857000	0.04115	0.528000	0.53228	AGT		0.373	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		15	44	0	0	0	1	0	15	44					T	61149557	A	T	61149557	3	4	461	1	0	0	0	0	1	0	0	0	13215	188	7	5	1789	5	REL	2	61149557	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		61149557	182049816	3	38317											
CEP68	23177	broad.mit.edu	37	chr2	65298755	65298755	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagcctcacagctcaggtctCtcttgcctgtcacagtggaa	9	14	5	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298755C>G	ENST00000377990.2	+	3	728	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CEP68_ENST00000260569.4_Silent_p.L175L|CEP68_ENST00000546106.1_Silent_p.L175L|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	175					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCAGGTCTCTCTTGCCTGT	0.577																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(523-525)ctC>ctG		centrosomal protein 68kDa							89	75	80					2																	65298755		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65298755C>G	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.525C>G	2.37:g.65298755C>G						CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.L175L|CEP68_ENST00000546106.1_Silent_p.L175L	p.L175L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	728	+			175					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.525C>G	CCDS1880.2																																																																																				0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		13	35	0	0	0	1	0	13	35					G	65298755	C	G	65298755	2	3	461	1	0	0	0	0	0	0	0	1	3258	900	32	4		4	CEP68	2	65298755	Silent	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	4149198	65298755	177900618	4	38318			1	47		2	2	23	N	T_C	3.197959e-05
CEP68	23177	broad.mit.edu	37	chr2	65298777	65298777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgtcacagtggaagTccgtgctgagcccaggttcc	12	13	1	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298777T>C	ENST00000377990.2	+	3	750	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGTGGAAGTCCGTGCTGAG	0.607																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(547-549)Tcc>Ccc		centrosomal protein 68kDa							81	68	73					2																	65298777		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298777T>C	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.547T>C	2.37:g.65298777T>C	ENSP00000367229:p.Ser183Pro					CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P	p.S183P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	750	+			183					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.547T>C	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365887	0.24684	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.20881	2.06;2.04;2.04	5.11	-1.54	0.08584	.	1.034710	0.07662	N	0.933809	T	0.10594	0.0259	N	0.12182	0.205	0.18873	N	0.999986	B;B;B;B;B	0.14012	0.009;0.009;0.004;0.009;0.009	B;B;B;B;B	0.15484	0.013;0.013;0.009;0.013;0.013	T	0.36163	-0.9759	10	0.31617	T	0.26	-1.8544	6.4499	0.21898	0.0:0.3915:0.1485:0.46	.	171;183;183;183;183	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	P	183;183;183;171	ENSP00000367229:S183P;ENSP00000438306:S183P;ENSP00000260569:S183P	ENSP00000260569:S183P	S	+	1	0	CEP68	65152281	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.335000	0.07873	-0.278000	0.09180	-0.331000	0.08364	TCC		0.607	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		11	32	0	0	0	1	0	11	32					C	65298777	T	C	65298777	3	2	461	1	0	0	0	0	1	0	0	0	3258	1667	58	3	553	3	CEP68	2	65298777	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	22	65298777	177900596	5	38319			1	47		2	2	23	N	T_C	3.197959e-05
LCT	3938	broad.mit.edu	37	chr2	136558246	136558246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttcagcccagtcactGctgatggtgatggaaatcac	12	10	3	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:136558246G>T	ENST00000264162.2	-	12	4807	c.4797C>A	c.(4795-4797)agC>agA	p.S1599R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1599	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)	CCCAGTCACTGCTGATGGTGA	0.522																																						ENST00000264162.2																			0				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						c.(4795-4797)agC>agA		lactase							114	107	110					2																	136558246		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136558246G>T	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.4797C>A	2.37:g.136558246G>T	ENSP00000264162:p.Ser1599Arg						p.S1599R	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	12	4807	-			1599			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.4797C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245322	0.59103	.	.	ENSG00000115850	ENST00000264162	T	0.33654	1.4	5.73	2.99	0.34606	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.357745	0.39210	N	0.001426	T	0.44973	0.1319	M	0.79258	2.445	0.33360	D	0.57219	B	0.32968	0.392	B	0.41646	0.362	T	0.57659	-0.7773	10	0.59425	D	0.04	-6.3014	9.885	0.41255	0.2719:0.0:0.7281:0.0	.	1599	P09848	LPH_HUMAN	R	1599	ENSP00000264162:S1599R	ENSP00000264162:S1599R	S	-	3	2	LCT	136274716	1.000000	0.71417	0.491000	0.27477	0.992000	0.81027	3.475000	0.53136	0.363000	0.24346	0.563000	0.77884	AGC		0.522	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		12	39	1	0	2.27111e-07	1	2.38858e-07	12	39					T	136558246	G	T	136558246	3	4	461	1	0	0	0	0	1	0	0	0	8693	1310	46	4	1010	4	LCT	2	136558246	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	71259469	136558246	106641127	6	38320											
TTN	7273	broad.mit.edu	37	chr2	179474646	179474646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatcatacaaaggtggcttCcatgtaatagtcattgcctc	7	11	2	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:179474646C>T	ENST00000591111.1	-	222	46805	c.46581G>A	c.(46579-46581)tgG>tgA	p.W15527*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W17168*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15527	Fibronectin type-III 13. {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)			AAGGTGGCTTCCATGTAATAG	0.433																																						ENST00000589042.1																			0				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						c.(51502-51504)tgG>tgA		titin							223	209	214					2																	179474646		1901	4126	6027	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474646C>T	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.46581G>A	2.37:g.179474646C>T	ENSP00000465570:p.Trp15527*					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W15527*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.W17168*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		272	51728	-			15527			Fibronectin type-III 24.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.51504G>A		.	.	.	.	.	.	.	.	.	.	C	60	40.709609	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8424	0.96695	0.0:1.0:0.0:0.0	.	.	.	.	X	14600;8103;8295;8228;8103	.	ENSP00000340554:W8295X	W	-	3	0	TTN	179182891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	TGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	129	0	0	0	1	0	47	129					T	179474646	C	T	179474646	4	4	461	1	0	0	0	0	0	1	0	0	16732	856	30	2	56553	2	TTN	2	179474646	Nonsense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	42916400	179474646	63724727	7	38321											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	29	0	0	0	1	0	16	29					T	209113112	C	T	209113112	3	4	461	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	29638466	209113112	34086261	8	38322											
PTPRG	5793	broad.mit.edu	37	chr3	62268456	62268456	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcccaaatggcctaacccaGatgcccccataagtagtacc	7	15	0	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:62268456G>C	ENST00000474889.1	+	28	4344	c.3967G>C	c.(3967-3969)Gat>Cat	p.D1323H	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1323	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GCCTAACCCAGATGCCCCCAT	0.428																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3967-3969)Gat>Cat		protein tyrosine phosphatase, receptor type, G							202	185	191					3																	62268456		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62268456G>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3967G>C	3.37:g.62268456G>C	ENSP00000418112:p.Asp1323His					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	p.D1323H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	28	4344	+			1323			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3967G>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386115	0.82902	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11821	2.74;2.74	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.047554	0.85682	D	0.000000	T	0.42108	0.1188	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	0.966;0.997;1.0	P;D;D	0.71870	0.819;0.975;0.964	T	0.31447	-0.9943	10	0.72032	D	0.01	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	569;1294;1323	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	H	1323;1294	ENSP00000418112:D1323H;ENSP00000295874:D1294H	ENSP00000295874:D1294H	D	+	1	0	PTPRG	62243496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.799000	0.96334	0.650000	0.86243	GAT		0.428	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		17	146	0	0	0	1	0	17	146					C	62268456	G	C	62268456	3	2	461	1	0	0	0	0	1	0	0	0	12802	942	33	4	4077	4	PTPRG	3	62268456	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		62268456	135753974	9	38323											
KIAA2018	205717	broad.mit.edu	37	chr3	113377453	113377453	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtcaggatgatccaTctgatcagaaagagatgatt	10	5	3	6			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:113377453T>A	ENST00000478658.1	-	5	3093	c.3076A>T	c.(3076-3078)Atg>Ttg	p.M1026L	KIAA2018_ENST00000316407.4_Missense_Mutation_p.M1026L|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1026						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						GGATGATCCATCTGATCAGAA	0.348																																						ENST00000316407.4																			0				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						c.(3076-3078)Atg>Ttg		KIAA2018							117	107	110					3																	113377453		1837	4081	5918	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377453T>A	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.3076A>T	3.37:g.113377453T>A	ENSP00000420721:p.Met1026Leu					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.M1026L	p.M1026L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	3486	-			1026					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.3076A>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.523706	0.00959	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13196	2.61;2.61	5.23	1.94	0.25998	.	0.938815	0.08971	N	0.867163	T	0.07818	0.0196	N	0.14661	0.345	0.22127	N	0.999344	B	0.02656	0.0	B	0.01281	0.0	T	0.35822	-0.9773	10	0.49607	T	0.09	-0.4894	4.3598	0.11196	0.2267:0.6042:0.0:0.169	.	1026	Q68DE3	K2018_HUMAN	L	1026	ENSP00000320794:M1026L;ENSP00000420721:M1026L	ENSP00000320794:M1026L	M	-	1	0	KIAA2018	114860143	0.160000	0.22878	0.198000	0.23420	0.008000	0.06430	1.292000	0.33342	0.452000	0.26830	-0.263000	0.10527	ATG		0.348	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		11	112	0	0	0	1	0	11	112					A	113377453	T	A	113377453	3	1	461	1	0	0	0	0	1	0	0	0	8268	1435	50	5	3665	5	KIAA2018	3	113377453	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	51108997	113377453	84644977	10	38324											
ILDR1	286676	broad.mit.edu	37	chr3	121712253	121712253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgggggctgggcctgCggggcctctcctgacagcgg	17	15	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:121712253C>T	ENST00000344209.5	-	7	1469	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H|ILDR1_ENST00000273691.3_Missense_Mutation_p.R404H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	448	Arg-rich.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTGGGCCTGCGGGGCCTCTC	0.677																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1210-1212)cGc>cAc		immunoglobulin-like domain containing receptor 1							19	22	20					3																	121712253		2203	4299	6502	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712253C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1343G>A	3.37:g.121712253C>T	ENSP00000345667:p.Arg448His					ILDR1_ENST00000344209.5_Missense_Mutation_p.R448H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H	p.R404H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	6	1316	-			448					Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.1211G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	3.053	-0.194862	0.06259	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.80909	-0.74;-0.67;-1.43;-0.32	5.02	-0.674	0.11369	.	0.873277	0.10338	N	0.686611	T	0.67524	0.2902	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.12630	0.002;0.0;0.001;0.006	B;B;B;B	0.12837	0.005;0.001;0.002;0.008	T	0.52697	-0.8541	10	0.34782	T	0.22	-7.2866	11.8819	0.52579	0.0:0.6601:0.0:0.3399	.	359;448;404;416	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	H	404;448;359;416	ENSP00000273691:R404H;ENSP00000345667:R448H;ENSP00000377251:R359H;ENSP00000419414:R416H	ENSP00000273691:R404H	R	-	2	0	ILDR1	123194943	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.380000	0.02551	-0.065000	0.13021	-0.940000	0.02684	CGC		0.677	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		6	14	0	0	0	1	0	6	14					T	121712253	C	T	121712253	3	4	461	1	0	0	0	0	1	0	0	0	7709	768	27	1	305	1	ILDR1	3	121712253	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	8334800	121712253	76310177	11	38325											
RASA2	5922	broad.mit.edu	37	chr3	141289844	141289844	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatatatgttatacagaagaCtacgtgcttccttcagagta	7	7	1	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:141289844C>G	ENST00000452898.1	+	10	989	c.954C>G	c.(952-954)gaC>gaG	p.D318E	RASA2_ENST00000286364.3_Missense_Mutation_p.D318E	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	318					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						ATACAGAAGACTACGTGCTTC	0.363																																						ENST00000286364.3																			0				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						c.(952-954)gaC>gaG		RAS p21 protein activator 2							48	49	49					3																	141289844		2202	4300	6502	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141289844C>G	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.954C>G	3.37:g.141289844C>G	ENSP00000391677:p.Asp318Glu					RASA2_ENST00000452898.1_Missense_Mutation_p.D318E	p.D318E			Q15283	RASA2_HUMAN			10	989	+			318					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.954C>G		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008473	0.75046	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.71461	-0.57;-0.57	5.46	2.68	0.31781	Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.79499	0.4456	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.999	T	0.75416	-0.3325	10	0.26408	T	0.33	.	9.8033	0.40777	0.0:0.7208:0.0:0.2792	.	318;318;318	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	E	318	ENSP00000286364:D318E;ENSP00000391677:D318E	ENSP00000286364:D318E	D	+	3	2	RASA2	142772534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.310000	0.43708	0.694000	0.31654	0.650000	0.86243	GAC		0.363	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		10	15	0	0	0	1	0	10	15					G	141289844	C	G	141289844	3	3	461	1	0	0	0	0	1	0	0	0	13061	564	20	4	992	4	RASA2	3	141289844	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	19577591	141289844	56732586	12	38326											
SLC22A5	6584	broad.mit.edu	37	chr5	131714135	131714135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgttcttcgtgggtgtGctgttgggctccttcatttc	11	10	2	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:131714135G>A	ENST00000245407.3	+	2	680	c.459G>A	c.(457-459)gtG>gtA	p.V153V	SLC22A5_ENST00000435065.2_Silent_p.V177V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	153					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TCGTGGGTGTGCTGTTGGGCT	0.547																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(457-459)gtG>gtA		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						275	267	270					5																	131714135		2203	4300	6503	SO:0001819	synonymous_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714135G>A	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.459G>A	5.37:g.131714135G>A						SLC22A5_ENST00000435065.2_Silent_p.V177V	p.V153V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	680	+		all_cancers(142;0.0751)|Breast(839;0.198)	153					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	c.459G>A	CCDS4154.1																																																																																				0.547	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		95	169	0	0	0	1	0	95	169					A	131714135	G	A	131714135	2	1	461	1	0	0	0	0	0	0	0	1	14457	1306	46	2		2	SLC22A5	5	131714135	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		131714135	49201125	13	38327											
HACE1	57531	broad.mit.edu	37	chr6	105300205	105300205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcacctgtgttgatcagCcataaccattggcattaatg	7	11	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:105300205C>T	ENST00000262903.4	-	2	394	c.118G>A	c.(118-120)Gct>Act	p.A40T	HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	40					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTTGATCAGCCATAACCATT	0.393																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(118-120)Gct>Act		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							82	78	79					6																	105300205		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105300205C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.118G>A	6.37:g.105300205C>T	ENSP00000262903:p.Ala40Thr					HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	2	394	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	40					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.118G>A	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917704	0.92249	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.71461	-0.57;-0.57;-0.09;1.57	5.05	5.05	0.67936	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.79805	2.47	0.80722	D	1	D;P	0.69078	0.997;0.872	D;P	0.77004	0.989;0.478	D	0.84873	0.0826	10	0.72032	D	0.01	.	17.535	0.87827	0.0:1.0:0.0:0.0	.	40;40	E9PGP0;Q8IYU2	.;HACE1_HUMAN	T	40;40;40;6	ENSP00000262903:A40T;ENSP00000358121:A40T;ENSP00000429765:A40T;ENSP00000427901:A6T	ENSP00000262903:A40T	A	-	1	0	HACE1	105406898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.739000	0.74827	2.491000	0.84063	0.585000	0.79938	GCT		0.393	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		9	21	0	0	0	1	0	9	21					T	105300205	C	T	105300205	3	4	461	1	0	0	0	0	1	0	0	0	6940	739	26	2	2703	2	HACE1	6	105300205	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		105300205	65814862	14	38328											
DSE	29940	broad.mit.edu	37	chr6	116720523	116720523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttatgattcccttcaccaAtgccaactacgacagccatc	5	14	1	1	rs371802983	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:116720523A>G	ENST00000331677.3	+	3	554	c.110A>G	c.(109-111)aAt>aGt	p.N37S	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	37					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)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCCTTCACCAATGCCAACTAC	0.552																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(109-111)aAt>aGt		dermatan sulfate epimerase							86	73	77					6																	116720523		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720523A>G	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.110A>G	6.37:g.116720523A>G	ENSP00000332151:p.Asn37Ser					DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S	p.N37S			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	554	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	37					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.110A>G	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.444946	0.43429	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.46	5.46	0.80206	.	0.111512	0.64402	D	0.000005	T	0.10594	0.0259	L	0.36672	1.1	0.46458	D	0.999055	P;P	0.37500	0.597;0.597	B;B	0.37888	0.26;0.116	T	0.06991	-1.0796	10	0.32370	T	0.25	-25.5339	15.7119	0.77635	1.0:0.0:0.0:0.0	.	56;37	B7Z765;Q9UL01	.;DSE_HUMAN	S	37;37;56;37;37	ENSP00000397597:N37S;ENSP00000404049:N37S;ENSP00000441152:N56S;ENSP00000332151:N37S;ENSP00000352567:N37S	ENSP00000332151:N37S	N	+	2	0	DSE	116827216	1.000000	0.71417	0.975000	0.42487	0.976000	0.68499	7.053000	0.76641	2.291000	0.77112	0.533000	0.62120	AAT		0.552	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		8	52	0	0	0	1	0	8	52					G	116720523	A	G	116720523	3	3	461	1	0	0	0	0	1	0	0	0	4774	101	4	3	112	3	DSE	6	116720523	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	11420318	116720523	54394544	15	38329											
CTSB	1508	broad.mit.edu	37	chr8	11710899	11710899	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catccgacaggggatggaaaGagggcctgctccgggcattg	16	10	0	1	rs144593312		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:11710899G>A	ENST00000353047.6	-	2	318	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CTSB_ENST00000453527.2_Missense_Mutation_p.S22F|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	22					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GGGATGGAAAGAGGGCCTGCT	0.597																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(64-66)tCt>tTt		cathepsin B		G	PHE/SER,PHE/SER,PHE/SER,PHE/SER,PHE/SER	0,4406		0,0,2203	113	92	99		65,65,65,65,65	-4.8	0	8	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CTSB	NM_001908.3,NM_147780.2,NM_147781.2,NM_147782.2,NM_147783.2	155,155,155,155,155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	22/340,22/340,22/340,22/340,22/340	11710899	1,13005	2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11710899G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.65C>T	8.37:g.11710899G>A	ENSP00000345672:p.Ser22Phe					CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F|CTSB_ENST00000453527.2_Missense_Mutation_p.S22F	p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	2	318	-	all_epithelial(15;0.205)		22					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.65C>T	CCDS5986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.266|0.266	-0.996204|-0.996204	0.02145|0.02145	0.0|0.0	1.16E-4|1.16E-4	ENSG00000164733|ENSG00000164733	ENST00000541328|ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382;ENST00000528965;ENST00000524654	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T;T	.|0.84298	.|-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;1.44;1.44;1.42;0.39	5.16|5.16	-4.85|-4.85	0.03142|0.03142	.|.	.|1.003180	.|0.08017	.|N	.|0.991458	T|T	0.68403|0.68403	0.2997|0.2997	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.52465|0.52465	-0.8572|-0.8572	5|10	.|0.30854	.|T	.|0.27	.|.	9.3412|9.3412	0.38080|0.38080	0.077:0.0715:0.6132:0.2383|0.077:0.0715:0.6132:0.2383	.|.	.|22	.|P07858	.|CATB_HUMAN	F|F	7|22	.|ENSP00000415889:S22F;ENSP00000345672:S22F;ENSP00000435105:S22F;ENSP00000433215:S22F;ENSP00000409917:S22F;ENSP00000411254:S22F;ENSP00000342070:S22F;ENSP00000432244:S22F;ENSP00000434217:S22F;ENSP00000436159:S22F;ENSP00000433995:S22F;ENSP00000435074:S22F;ENSP00000436627:S22F;ENSP00000434725:S22F;ENSP00000436122:S22F;ENSP00000431518:S22F;ENSP00000435650:S22F;ENSP00000436074:S22F;ENSP00000435886:S22F;ENSP00000431143:S22F;ENSP00000435260:S22F;ENSP00000433929:S22F;ENSP00000432077:S22F	.|ENSP00000342070:S22F	L|S	-|-	1|2	0|0	CTSB|CTSB	11748308|11748308	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.078000|0.078000	0.17371|0.17371	-0.202000|-0.202000	0.09451|0.09451	-0.656000|-0.656000	0.05380|0.05380	-0.521000|-0.521000	0.04368|0.04368	CTT|TCT		0.597	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		4	80	0	0	0	1	0	4	80					A	11710899	G	A	11710899	3	1	461	1	0	0	0	0	1	0	0	0	4030	942	33	2	990	2	CTSB	8	11710899	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		11710899	134653123	16	38330											
KCNB2	9312	broad.mit.edu	37	chr8	73849510	73849510	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccgacctcccagggacAgaagagcaccaaagagctag	10	14	0	3	rs372843947		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:73849510A>G	ENST00000523207.1	+	3	2508	c.1920A>G	c.(1918-1920)acA>acG	p.T640T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	640					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)	TCCCAGGGACAGAAGAGCACC	0.602																																						ENST00000523207.1																			0				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						c.(1918-1920)acA>acG		potassium voltage-gated channel, Shab-related subfamily, member 2		A		0,4406		0,0,2203	61	68	66		1920	-5.3	0	8		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNB2	NM_004770.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		640/912	73849510	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849510A>G	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.1920A>G	8.37:g.73849510A>G							p.T640T	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2508	+	Breast(64;0.137)		640					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1920A>G	CCDS6209.1																																																																																				0.602	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		4	109	0	0	0	1	0	4	109					G	73849510	A	G	73849510	2	3	461	1	0	0	0	0	0	0	0	1	8013	175	7	3		3	KCNB2	8	73849510	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	62138611	73849510	72514512	17	38331											
KIAA0649	9858	broad.mit.edu	37	chr9	138378948	138378948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaggcagagggccccacCgctcttgggacagggggccc	16	14	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr9:138378948C>T	ENST00000356818.2	+	4	3141	c.2592C>T	c.(2590-2592)acC>acT	p.T864T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.T864T|PPP1R26_ENST00000604351.1_Silent_p.T864T|PPP1R26_ENST00000401470.3_Silent_p.T864T|PPP1R26_ENST00000605660.1_Silent_p.T864T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	864					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGGGCCCCACCGCTCTTGGGA	0.632																																						ENST00000356818.2																			0											c.(2590-2592)acC>acT		protein phosphatase 1, regulatory subunit 26							38	47	44					9																	138378948		2184	4275	6459	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138378948C>T	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.2592C>T	9.37:g.138378948C>T						PPP1R26_ENST00000401470.3_Silent_p.T864T|PPP1R26_ENST00000605660.1_Silent_p.T864T|PPP1R26_ENST00000605286.1_Silent_p.T864T|PPP1R26_ENST00000604351.1_Silent_p.T864T|PPP1R26_ENST00000602993.1_Intron	p.T864T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3141	+			864					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2592C>T	CCDS6988.1																																																																																				0.632	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		8	93	0	0	0	1	0	8	93					T	138378948	C	T	138378948	2	4	461	1	0	0	0	0	0	0	0	1	8187	639	23	1		1	KIAA0649	9	138378948	Silent	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		138378948	2834483	18	38332											
CTBP2	1488	broad.mit.edu	37	chr10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgtctcttgactttgTgcttatccacaagggccatt	8	11	1	1	rs78849795		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453																																						ENST00000337195.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(19-21)cAc>cGc		C-terminal binding protein 2							131	120	124					10																	126727604		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727604T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.20A>G	10.37:g.126727604T>C	ENSP00000338615:p.His7Arg					CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R	p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	3	419	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	7					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.20A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123856	0.37436	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.28	5.28	0.74379	.	.	.	.	.	T	0.75361	0.3839	L	0.51422	1.61	0.26416	N	0.976171	B	0.02656	0.0	B	0.04013	0.001	T	0.60944	-0.7162	9	0.19147	T	0.46	.	13.9484	0.64101	0.0:0.0:0.0:1.0	rs3208567	7	P56545	CTBP2_HUMAN	R	7	ENSP00000338615:H7R;ENSP00000434630:H7R;ENSP00000436285:H7R;ENSP00000410474:H7R	ENSP00000338615:H7R	H	-	2	0	CTBP2	126717594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	CAC		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		3	78	0	0	0	1	0	3	78					C	126727604	T	C	126727604	3	2	461	1	0	0	0	0	1	0	0	0	3998	1696	59	3	3035	3	CTBP2	10	126727604	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		126727604	8807143	19	38333											
COPB1	1315	broad.mit.edu	37	chr11	14515962	14515962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttcaaagcttcagTctttgactttacatctcctt	3	11	5	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:14515962T>C	ENST00000249923.3	-	3	415	c.115A>G	c.(115-117)Act>Gct	p.T39A	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.T39A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	39					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAAGCTTCAGTCTTTGACTTT	0.289																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(115-117)Act>Gct		coatomer protein complex, subunit beta 1							70	67	68					11																	14515962		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14515962T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.115A>G	11.37:g.14515962T>C	ENSP00000249923:p.Thr39Ala					PSMA1_ENST00000555531.1_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.T39A|PSMA1_ENST00000419365.2_3'UTR	p.T39A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			3	415	-			39					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.115A>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113965	0.56398	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.07279	0.0184	N	0.03268	-0.37	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.37454	-0.9705	10	0.21014	T	0.42	-10.6632	15.759	0.78063	0.0:0.0:0.0:1.0	.	39	P53618	COPB_HUMAN	A	39	ENSP00000249923:T39A;ENSP00000397873:T39A;ENSP00000436383:T39A;ENSP00000431530:T39A;ENSP00000436401:T39A	ENSP00000249923:T39A	T	-	1	0	COPB1	14472538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.293000	0.72731	2.121000	0.65114	0.533000	0.62120	ACT		0.289	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		12	12	0	0	0	1	0	12	12					C	14515962	T	C	14515962	3	2	461	1	0	0	0	0	1	0	0	0	3728	1667	58	3	2826	3	COPB1	11	14515962	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		14515962	120490554	20	38334											
OR5W2	390148	broad.mit.edu	37	chr11	55681814	55681814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcaagtagatctaccAgcatcttgggcccagttgca	10	11	3	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:55681814A>G	ENST00000344514.1	-	1	244	c.245T>C	c.(244-246)cTg>cCg	p.L82P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGATCTACCAGCATCTTGGG	0.433																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(244-246)cTg>cCg		olfactory receptor, family 5, subfamily W, member 2							136	130	132					11																	55681814		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681814A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.245T>C	11.37:g.55681814A>G	ENSP00000342448:p.Leu82Pro						p.L82P	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	244	-			82						Missense_Mutation	SNP	ENST00000344514.1	37	c.245T>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814224	0.32053	.	.	ENSG00000187612	ENST00000344514	T	0.00441	7.41	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30949	N	0.008547	T	0.00998	0.0033	H	0.96239	3.79	0.58432	D	0.999996	P	0.36438	0.553	B	0.40134	0.32	T	0.20806	-1.0264	10	0.87932	D	0	.	12.6788	0.56910	1.0:0.0:0.0:0.0	.	82	Q8NH69	OR5W2_HUMAN	P	82	ENSP00000342448:L82P	ENSP00000342448:L82P	L	-	2	0	OR5W2	55438390	0.314000	0.24563	0.142000	0.22268	0.284000	0.27059	4.996000	0.63914	1.874000	0.54306	0.448000	0.29417	CTG		0.433	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		25	45	0	0	0	1	0	25	45					G	55681814	A	G	55681814	3	3	461	1	0	0	0	0	1	0	0	0	11185	188	7	3	689	3	OR5W2	11	55681814	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	41165852	55681814	79324702	21	38335											
OR4D6	219983	broad.mit.edu	37	chr11	59225062	59225062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactggtgaccctgctctGgttcctcctgctcctgggct	12	15	1	1	rs202119522		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:59225062G>T	ENST00000300127.2	+	1	652	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	210						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCCTGCTCTGGTTCCTCCTG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20331	0.0		0.001	False		,,,				2504	0.0					ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(628-630)tGg>tTg		olfactory receptor, family 4, subfamily D, member 6		G	LEU/TRP	1,4401	2.1+/-5.4	0,1,2200	162	136	145		629	3.1	0.4	11		145	1,8589	1.2+/-3.3	0,1,4294	yes	missense	OR4D6	NM_001004708.1	61	0,2,6494	TT,TG,GG		0.0116,0.0227,0.0154	benign	210/315	59225062	2,12990	2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225062G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.629G>T	11.37:g.59225062G>T	ENSP00000300127:p.Trp210Leu						p.W210L	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	652	+			210					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.629G>T	CCDS31562.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.047	-1.261184	0.01445	2.27E-4	1.16E-4	ENSG00000166884	ENST00000300127	T	0.35421	1.31	6.01	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.132433	0.35436	N	0.003203	T	0.27832	0.0685	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.22152	0.038	T	0.17684	-1.0361	10	0.46703	T	0.11	-4.8046	13.5361	0.61648	0.0:0.325:0.5649:0.1101	.	210	Q8NGJ1	OR4D6_HUMAN	L	210	ENSP00000300127:W210L	ENSP00000300127:W210L	W	+	2	0	OR4D6	58981638	0.000000	0.05858	0.371000	0.25978	0.095000	0.18619	0.108000	0.15396	0.132000	0.18615	-0.795000	0.03280	TGG		0.552	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		18	55	1	0	6.94344e-10	1	7.56339e-10	18	55					T	59225062	G	T	59225062	3	4	461	1	0	0	0	0	1	0	0	0	11058	1357	47	4	631	4	OR4D6	11	59225062	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	3543248	59225062	75781454	22	38336											
LRRC32	2615	broad.mit.edu	37	chr11	76371945	76371945	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccgtctgaaaggccTcgatgctgttgcagctcagg	16	10	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:76371945T>G	ENST00000407242.2	-	3	934	c.692A>C	c.(691-693)gAg>gCg	p.E231A	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	231					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGAAAGGCCTCGATGCTGTT	0.622																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(691-693)gAg>gCg		leucine rich repeat containing 32							44	47	46					11																	76371945		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371945T>G	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.692A>C	11.37:g.76371945T>G	ENSP00000384126:p.Glu231Ala					LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A|AP001189.4_ENST00000447519.1_RNA	p.E231A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	934	-			231					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.692A>C	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.828010	0.50845	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.80033	-1.33;-1.33;-1.33	4.43	4.43	0.53597	.	0.174596	0.50627	D	0.000118	T	0.78259	0.4255	N	0.21282	0.65	0.50467	D	0.999871	D	0.62365	0.991	P	0.60541	0.876	T	0.73122	-0.4082	10	0.10111	T	0.7	.	13.8515	0.63499	0.0:0.0:0.0:1.0	.	231	Q14392	LRC32_HUMAN	A	231	ENSP00000260061:E231A;ENSP00000384126:E231A;ENSP00000385766:E231A	ENSP00000260061:E231A	E	-	2	0	LRRC32	76049593	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	5.860000	0.69546	1.870000	0.54199	0.379000	0.24179	GAG		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		19	40	0	0	0	1	0	19	40					G	76371945	T	G	76371945	3	3	461	1	0	0	0	0	1	0	0	0	8987	1551	54	5	1300	5	LRRC32	11	76371945	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	17146883	76371945	58634571	23	38337											
KRT18	3875	broad.mit.edu	37	chr12	53344556	53344556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagacagagctggccatgCgccagtctgtggagaacgac	14	10	1	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:53344556C>T	ENST00000388835.3	+	3	733	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C|KRT18_ENST00000550600.1_Missense_Mutation_p.R175C	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	175	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGCCATGCGCCAGTCTGT	0.527																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(523-525)Cgc>Tgc		keratin 18							43	39	40					12																	53344556		2203	4300	6503	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344556C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.523C>T	12.37:g.53344556C>T	ENSP00000373487:p.Arg175Cys					KRT18_ENST00000388835.3_Missense_Mutation_p.R175C|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C	p.R175C			P05783	K1C18_HUMAN			4	577	+			175			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.523C>T	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.914725	0.52546	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.91792	-2.91;-2.91;-2.91	3.85	3.85	0.44370	Filament (1);	0.094954	0.43919	D	0.000509	D	0.88164	0.6363	L	0.41079	1.255	0.80722	D	1	B;B	0.19073	0.005;0.033	B;B	0.17979	0.005;0.02	D	0.86513	0.1811	10	0.72032	D	0.01	.	14.0698	0.64852	0.0:1.0:0.0:0.0	.	175;175	F8VZY9;P05783	.;K1C18_HUMAN	C	175	ENSP00000373489:R175C;ENSP00000447278:R175C;ENSP00000373487:R175C	ENSP00000373487:R175C	R	+	1	0	KRT18	51630823	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.725000	0.61979	2.427000	0.82271	0.561000	0.74099	CGC		0.527	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		4	9	0	0	0	1	0	4	9					T	53344556	C	T	53344556	3	4	461	1	0	0	0	0	1	0	0	0	8455	768	27	1	533	1	KRT18	12	53344556	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		53344556	80507339	24	38338											
PTPRB	5787	broad.mit.edu	37	chr12	70956725	70956725	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcaagttctggaaagagaagCtctggactagtgggtcaact	13	7	3	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:70956725C>G	ENST00000261266.5	-	14	3442	c.3413G>C	c.(3412-3414)aGc>aCc	p.S1138T	PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000334414.6_Missense_Mutation_p.S1356T|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1138	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAAGAGAAGCTCTGGACTAG	0.473																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4066-4068)aGc>aCc		protein tyrosine phosphatase, receptor type, B							114	107	109					12																	70956725		1888	4119	6007	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70956725C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3413G>C	12.37:g.70956725C>G	ENSP00000261266:p.Ser1138Thr					PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1138T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T	p.S1356T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4111	-	Renal(347;0.236)		1138			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4067G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661296	0.29515	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.89	1.18	0.20946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.306644	0.41194	N	0.000938	T	0.37489	0.1005	L	0.43152	1.355	0.23016	N	0.998425	B;B;B;B;B;B;B	0.15719	0.001;0.001;0.001;0.001;0.001;0.001;0.014	B;B;B;B;B;B;B	0.15484	0.008;0.008;0.013;0.008;0.005;0.008;0.012	T	0.15521	-1.0434	10	0.30854	T	0.27	.	5.9703	0.19349	0.0:0.2464:0.5909:0.1627	.	1048;1048;1235;1355;1356;1138;1268	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	T	1356;1048;1268;1048;1048;1138;1355;1235	ENSP00000334928:S1356T;ENSP00000393028:S1048T;ENSP00000448058:S1268T;ENSP00000438927:S1048T;ENSP00000447302:S1048T;ENSP00000261266:S1138T;ENSP00000448349:S1355T;ENSP00000446982:S1235T	ENSP00000261266:S1138T	S	-	2	0	PTPRB	69242992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.349000	0.33998	0.800000	0.34041	0.591000	0.81541	AGC		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			27	34	0	0	0	1	0	27	34					G	70956725	C	G	70956725	3	3	461	1	0	0	0	0	1	0	0	0	12796	797	28	4	2656	4	PTPRB	12	70956725	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	17612169	70956725	62895170	25	38339											
CARS2	79587	broad.mit.edu	37	chr13	111296777	111296777	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcaaaaaactgttcAaagtaagagatgatggcacc	8	7	2	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr13:111296777A>G	ENST00000257347.4	-	13	1434	c.1371T>C	c.(1369-1371)ttT>ttC	p.F457F	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	457					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	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;0.163)		L-Cysteine(DB00151)	AAAACTGTTCAAAGTAAGAGA	0.408																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(1369-1371)ttT>ttC		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						86	85	85					13																	111296777		2203	4300	6503	SO:0001819	synonymous_variant	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111296777A>G	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1371T>C	13.37:g.111296777A>G						CARS2_ENST00000535398.1_5'UTR	p.F457F	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		13	1434	-	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)		457					Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	c.1371T>C	CCDS9514.1																																																																																				0.408	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		22	41	0	0	0	1	0	22	41					G	111296777	A	G	111296777	2	3	461	1	0	0	0	0	0	0	0	1	2658	127	5	3		3	CARS2	13	111296777	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		111296777	3873101	26	38340											
TEP1	7011	broad.mit.edu	37	chr14	20852762	20852762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctccctcagctcacctgCggcaggtgatccctttctgt	8	16	3	1	rs151250357	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr14:20852762C>T	ENST00000262715.5	-	22	3258	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	TEP1_ENST00000556935.1_Missense_Mutation_p.R965H|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1073					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)		AGCTCACCTGCGGCAGGTGAT	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17993	0.0		0.0	False		,,,				2504	0.0					ENST00000262715.5																			0				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						c.(3217-3219)cGc>cAc		telomerase-associated protein 1		C	HIS/ARG	12,4394	19.1+/-41.9	0,12,2191	138	150	146		3218	3	1	14	dbSNP_134	146	0,8600		0,0,4300	yes	missense	TEP1	NM_007110.4	29	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	probably-damaging	1073/2628	20852762	12,12994	2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852762C>T		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.3218G>A	14.37:g.20852762C>T	ENSP00000262715:p.Arg1073His					TEP1_ENST00000556935.1_Missense_Mutation_p.R965H	p.R1073H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	22	3258	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1073					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.3218G>A	CCDS9548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.12	1.262477	0.23051	0.002724	0.0	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.19806	2.12;2.12	5.2	3.0	0.34707	.	0.525801	0.22132	N	0.064161	T	0.14787	0.0357	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25521	0.128;0.025;0.078	B;B;B	0.20384	0.029;0.008;0.008	T	0.06770	-1.0808	10	0.22109	T	0.4	.	6.8685	0.24106	0.148:0.6694:0.0:0.1825	.	965;423;1073	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	1073;1073;965	ENSP00000262715:R1073H;ENSP00000452574:R965H	ENSP00000262715:R1073H	R	-	2	0	TEP1	19922602	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	1.029000	0.30140	1.174000	0.42811	0.561000	0.74099	CGC		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		71	147	0	0	0	1	0	71	147					T	20852762	C	T	20852762	3	4	461	1	0	0	0	0	1	0	0	0	15756	768	27	1	4801	1	TEP1	14	20852762	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		20852762	86496778	27	38341											
GTF3C1	2975	broad.mit.edu	37	chr16	27503949	27503949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggacattacctgatctttatCctgaaacttttccgtgggac	8	10	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr16:27503949C>G	ENST00000356183.4	-	18	2977	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	988					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						TGATCTTTATCCTGAAACTTT	0.488																																						ENST00000356183.4																			0				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						c.(2962-2964)Gat>Cat		general transcription factor IIIC, polypeptide 1, alpha 220kDa							147	153	151					16																	27503949		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503949C>G	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.2962G>C	16.37:g.27503949C>G	ENSP00000348510:p.Asp988His					GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			18	2977	-			988					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2962G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825294	0.90955	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26957	1.7	5.43	5.43	0.79202	.	0.165819	0.53938	D	0.000054	T	0.53834	0.1821	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.965;0.988	T	0.57118	-0.7866	10	0.87932	D	0	-20.7655	18.8685	0.92303	0.0:1.0:0.0:0.0	.	988;988	Q12789;Q12789-3	TF3C1_HUMAN;.	H	988;986	ENSP00000348510:D988H	ENSP00000348510:D988H	D	-	1	0	GTF3C1	27411450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.547000	0.85894	0.655000	0.94253	GAT		0.488	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		7	134	0	0	0	1	0	7	134					G	27503949	C	G	27503949	3	3	461	1	0	0	0	0	1	0	0	0	6872	855	30	4	3447	4	GTF3C1	16	27503949	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		27503949	62850804	28	38342											
TP53	7157	broad.mit.edu	37	chr17	7577115	7577115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcccaggacaggcacAaacacgcacctcaaagctgt	8	15	2	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:7577115A>C	ENST00000269305.4	-	8	1012	c.823T>G	c.(823-825)Tgt>Ggt	p.C275G	TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(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)	GGACAGGCACAAACACGCACC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		36	Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Unknown(2)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	bone(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|oesophagus(2)|peritoneum(1)|urinary_tract(1)|skin(1)|lung(1)|prostate(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						c.(823-825)Tgt>Ggt	Other conserved DNA damage response genes	tumor protein p53							70	60	64					17																	7577115		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577115A>C	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.823T>G	17.37:g.7577115A>C	ENSP00000269305:p.Cys275Gly	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)				TP53_ENST00000269305.4_Missense_Mutation_p.C275G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G	p.C275G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.823T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294377	0.81025	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	4.92	4.92	0.64577	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	0.99873	0.9940	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.996;1.0;0.996;0.996	D	0.96415	0.9307	10	0.87932	D	0	-17.2181	12.5624	0.56288	1.0:0.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	275;275;275;275;275;264;143	ENSP00000352610:C275G;ENSP00000269305:C275G;ENSP00000398846:C275G;ENSP00000391127:C275G;ENSP00000391478:C275G;ENSP00000425104:C143G	ENSP00000269305:C275G	C	-	1	0	TP53	7517840	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	14	0	0	0	1	0	19	14					C	7577115	A	C	7577115	3	2	461	1	0	0	0	0	1	0	0	0	16378	130	5	5	463	5	TP53	17	7577115	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		7577115	73618095	29	38343											
MYH8	4626	broad.mit.edu	37	chr17	10300287	10300287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagcttcttgcaggcGctgggccaactttttcctga	9	13	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:10300287G>A	ENST00000403437.2	-	31	4289	c.4195C>T	c.(4195-4197)Cgc>Tgc	p.R1399C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1399					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						TCTTGCAGGCGCTGGGCCAAC	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(4195-4197)Cgc>Tgc		myosin, heavy chain 8, skeletal muscle, perinatal							56	54	55					17																	10300287		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300287G>A		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.4195C>T	17.37:g.10300287G>A	ENSP00000384330:p.Arg1399Cys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1399C	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4289	-			1399					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4195C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833008	0.91036	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.80214	-1.35	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.42548	U	0.000682	D	0.93236	0.7845	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95070	0.8203	10	0.87932	D	0	.	18.8185	0.92086	0.0:0.0:1.0:0.0	.	1399	P13535	MYH8_HUMAN	C	1399	ENSP00000384330:R1399C	ENSP00000252173:R1399C	R	-	1	0	MYH8	10241012	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.276000	0.95745	2.673000	0.90976	0.650000	0.86243	CGC		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		17	32	0	0	0	1	0	17	32					A	10300287	G	A	10300287	3	1	461	1	0	0	0	0	1	0	0	0	10041	1087	38	1	1658	1	MYH8	17	10300287	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	2723172	10300287	70894923	30	38344											
KRT13	3860	broad.mit.edu	37	chr17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	11	16	3	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(601-603)Cgc>Tgc		keratin 13							62	62	62					17																	39659673		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659673G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.601C>T	17.37:g.39659673G>A	ENSP00000246635:p.Arg201Cys					KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	p.R201C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			3	647	-		Breast(137;0.000286)	201			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.601C>T	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669876	0.88348	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.91792	-2.91;-2.91	4.4	4.4	0.53042	Filament (1);	0.000000	0.46145	D	0.000309	D	0.93986	0.8074	M	0.82132	2.575	0.80722	D	1	P;P;P;P	0.49559	0.925;0.896;0.873;0.896	P;P;B;P	0.49192	0.602;0.478;0.346;0.478	D	0.94975	0.8120	10	0.66056	D	0.02	.	17.5315	0.87816	0.0:0.0:1.0:0.0	.	189;201;201;201	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	C	201;201;189	ENSP00000246635:R201C;ENSP00000336604:R201C	ENSP00000157775:R189C	R	-	1	0	KRT13	36913199	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.441000	0.66569	2.444000	0.82710	0.561000	0.74099	CGC		0.483	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		27	55	0	0	0	1	0	27	55					A	39659673	G	A	39659673	3	1	461	1	0	0	0	0	1	0	0	0	8450	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	29359386	39659673	41535537	31	38345											
KRT15	3866	broad.mit.edu	37	chr17	39674590	39674590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggactcaccttgtcccGgagctcttcaatggtcttga	10	13	4	1	rs142682445	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39674590G>A	ENST00000254043.3	-	1	4075	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W|KRT15_ENST00000393974.3_Silent_p.S26S	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	164	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.527																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(490-492)Cgg>Tgg		keratin 15		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	127	130		490	3.2	0.8	17	dbSNP_134	130	10,8590	7.7+/-29.5	0,10,4290	yes	missense	KRT15	NM_002275.3	101	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	probably-damaging	164/457	39674590	11,12995	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39674590G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.490C>T	17.37:g.39674590G>A	ENSP00000254043:p.Arg164Trp					KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393974.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W	p.R164W	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			1	4075	-		Breast(137;0.000286)	164			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.490C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297605	0.60086	2.27E-4	0.001163	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.93019	-3.15;-3.15	5.2	3.17	0.36434	Filament (1);	0.000000	0.44902	D	0.000415	D	0.97495	0.9180	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96214	0.9155	10	0.87932	D	0	.	7.8594	0.29501	0.0736:0.0:0.6395:0.2868	.	164	P19012	K1C15_HUMAN	W	164	ENSP00000254043:R164W;ENSP00000377546:R164W	ENSP00000254043:R164W	R	-	1	2	KRT15	36928116	0.066000	0.20996	0.831000	0.32960	0.757000	0.42996	2.389000	0.44407	0.733000	0.32492	0.561000	0.74099	CGG		0.527	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		20	42	0	0	0	1	0	20	42					A	39674590	G	A	39674590	3	1	461	1	0	0	0	0	1	0	0	0	8452	1115	39	1	912	1	KRT15	17	39674590	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	14917	39674590	41520620	32	38346											
CDC27	996	broad.mit.edu	37	chr17	45234392	45234392	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcccagtgggacagtAtcaggtgaaattacagctga	11	9	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:45234392A>G	ENST00000066544.3	-	7	822	c.729T>C	c.(727-729)gaT>gaC	p.D243D	CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D|CDC27_ENST00000531206.1_Silent_p.D243D|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGGGACAGTATCAGGTGAAA	0.363																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(727-729)gaT>gaC		cell division cycle 27							46	50	49					17																	45234392		2194	4294	6488	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234392A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.729T>C	17.37:g.45234392A>G						CDC27_ENST00000531206.1_Silent_p.D243D|CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D	p.D243D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	822	-			243					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.729T>C	CCDS11509.1																																																																																				0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	56	0	0	0	1	0	3	56					G	45234392	A	G	45234392	2	3	461	1	0	0	0	0	0	0	0	1	3066	446	16	3		3	CDC27	17	45234392	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	5559802	45234392	35960818	33	38347											
SERPINB10	5273	broad.mit.edu	37	chr18	61584738	61584739	+	Frame_Shift_Ins	INS	-	-	A													caaatgtgaccctgaaagtgINSaaaaaaaaaggaaaatggta					rs201620640		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr18:61584738_61584739insA	ENST00000238508.3	+	3	276_277	c.217_218insA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	73					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAGG	0.282																																						ENST00000238508.3																			1	Deletion - Frameshift(1)	p.R76fs*7(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(217-219)aaafs		serpin peptidase inhibitor, clade B (ovalbumin), member 10																																				SO:0001589	frameshift_variant	5273							g.chr18:61584738_61584739insA	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.226dupA	18.37:g.61584747_61584747dupA	ENSP00000238508:p.Glu73fs						p.K73fs	NM_005024.1	NP_005015.1					3	276_277	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Frame_Shift_Ins	INS	ENST00000238508.3	37	c.217_218insA	CCDS11990.1																																																																																				0.282	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		3	6						3	6	---	---	---	---	A	61584739	-	A	61584738	7	5	461	1	0	1	1	0	0	0	0	0	14097	1291	45	0	223	0	SERPINB10	18	61584738	Frame_Shift_Ins	INS	-	TCGA-TM-A7C4-01A-11D-A32B-08		61584738	16492510	34	38348											
NOTCH3	4854	broad.mit.edu	37	chr19	15284920	15284920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgacgggcccggggttcGgagccaggactaggccggtg	18	13	0	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:15284920G>A	ENST00000263388.2	-	25	4770	c.4695C>T	c.(4693-4695)tcC>tcT	p.S1565S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1565					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)			CCCGGGGTTCGGAGCCAGGAC	0.687																																						ENST00000263388.2																			0				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						c.(4693-4695)tcC>tcT		notch 3							24	33	30					19																	15284920		2178	4275	6453	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15284920G>A	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.4695C>T	19.37:g.15284920G>A							p.S1565S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		25	4770	-			1565					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.4695C>T	CCDS12326.1																																																																																				0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		22	32	0	0	0	1	0	22	32					A	15284920	G	A	15284920	2	1	461	1	0	0	0	0	0	0	0	1	10550	1103	39	1		1	NOTCH3	19	15284920	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		15284920	43844063	35	38349											
ZNF101	94039	broad.mit.edu	37	chr19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatgaatgcaaggtgtgcGggaaagcctttaattctccc	10	9	1	1	rs558462983		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19760	0.0		0.001	False		,,,				2504	0.0					ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(523-525)Ggg>Agg		zinc finger protein 101							89	94	92					19																	19790321		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790321G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.523G>A	19.37:g.19790321G>A	ENSP00000468049:p.Gly175Arg					ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R|ZNF101_ENST00000444249.2_3'UTR	p.G175R			Q8IZC7	ZN101_HUMAN			4	633	+			175					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.523G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552295	0.65311	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07444	3.19;3.19	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27594	0.0678	M	0.90198	3.095	0.34091	D	0.660734	D	0.76494	0.999	D	0.67900	0.954	T	0.38457	-0.9660	9	0.72032	D	0.01	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	175	Q8IZC7	ZN101_HUMAN	R	175;175;55	ENSP00000319716:G175R;ENSP00000400952:G55R	ENSP00000319716:G175R	G	+	1	0	ZNF101	19651321	1.000000	0.71417	0.543000	0.28128	0.550000	0.35303	2.860000	0.48372	0.308000	0.22923	0.313000	0.20887	GGG		0.438	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		45	74	0	0	0	1	0	45	74					A	19790321	G	A	19790321	3	1	461	1	0	0	0	0	1	0	0	0	17711	1116	39	1	537	1	ZNF101	19	19790321	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	4505401	19790321	39338662	36	38350											
CCDC123	84902	broad.mit.edu	37	chr19	33462750	33462750	+	Frame_Shift_Del	DEL	T	T	-													gcatctacttacgaaatgacTcctgcggcctctccgaaatc							TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:33462750delT	ENST00000305768.5	-	1	119	c.31delA	c.(31-33)agtfs	p.S11fs	C19orf40_ENST00000589646.1_5'Flank|C19orf40_ENST00000588258.1_5'Flank|CEP89_ENST00000590597.2_Frame_Shift_Del_p.S11fs|C19orf40_ENST00000590281.1_5'Flank|CEP89_ENST00000591863.1_5'UTR|C19orf40_ENST00000590179.1_5'Flank	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	11					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ACGAAATGACTCCTGCGGCCT	0.617																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(31-33)gtfs		centrosomal protein 89kDa							25	23	23					19																	33462750		2202	4296	6498	SO:0001589	frameshift_variant	84902					centrosome|spindle pole		g.chr19:33462750delT	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.31delA	19.37:g.33462750delT	ENSP00000306105:p.Ser11fs					CEP89_ENST00000590597.1_Frame_Shift_Del_p.S11fs|CEP89_ENST00000591863.1_5'UTR	p.S11fs	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			1	119	-			11					B9EGA6|Q8N5J8	Frame_Shift_Del	DEL	ENST00000305768.5	37	c.31delA	CCDS32987.1																																																																																				0.617	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		2	4						2	4	---	---	---	---	-	33462750	T	-	33462750	7	5	461	1	0	1	0	1	0	0	0	0	2759	1551	54	0	2396	0	CCDC123	19	33462750	Frame_Shift_Del	DEL	T	TCGA-TM-A7C4-01A-11D-A32B-08	13672429	33462750	25666233	37	38351											
CCDC9	26093	broad.mit.edu	37	chr19	47774919	47774919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgggtgaggcctggcCttttgagagtgtatgaagct	14	10	0	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:47774919C>T	ENST00000221922.6	+	12	1802	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	527							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGCCTGGCCTTTTGAGAGT	0.652																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(1579-1581)cCt>cTt		coiled-coil domain containing 9							32	38	36					19																	47774919		2200	4294	6494	SO:0001583	missense	26093							g.chr19:47774919C>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1580C>T	19.37:g.47774919C>T	ENSP00000221922:p.Pro527Leu						p.P527L	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1802	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	527						Missense_Mutation	SNP	ENST00000221922.6	37	c.1580C>T	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	17.39	3.378606	0.61735	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.32023	1.47	3.46	3.46	0.39613	.	0.117272	0.37012	N	0.002282	T	0.49525	0.1562	L	0.57536	1.79	0.49299	D	0.999772	D	0.89917	1.0	D	0.87578	0.998	T	0.53272	-0.8462	10	0.87932	D	0	-10.0866	12.847	0.57835	0.0:1.0:0.0:0.0	.	527	Q9Y3X0	CCDC9_HUMAN	L	527;509	ENSP00000221922:P527L	ENSP00000221922:P527L	P	+	2	0	CCDC9	52466759	0.996000	0.38824	0.984000	0.44739	0.372000	0.29890	2.541000	0.45735	2.235000	0.73313	0.297000	0.19635	CCT		0.652	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		12	27	0	0	0	1	0	12	27					T	47774919	C	T	47774919	3	4	461	1	0	0	0	0	1	0	0	0	2867	681	24	2	1622	2	CCDC9	19	47774919	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	14312169	47774919	11354064	38	38352											
TP53TG5	27296	broad.mit.edu	37	chr20	44004019	44004019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcattgccgccaatgacGttttctccttgttcctcatc	8	13	2	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr20:44004019G>A	ENST00000372726.3	-	4	584	c.428C>T	c.(427-429)aCg>aTg	p.T143M	SYS1_ENST00000426004.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	143					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CGCCAATGACGTTTTCTCCTT	0.502																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(427-429)aCg>aTg		TP53 target 5							244	240	241					20																	44004019		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44004019G>A	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 10"	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.428C>T	20.37:g.44004019G>A	ENSP00000361811:p.Thr143Met					SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M	p.T143M	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	584	-			143						Missense_Mutation	SNP	ENST00000372726.3	37	c.428C>T	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	g	10.13	1.266607	0.23136	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.14391	2.51;2.51	5.01	-10.0	0.00425	.	2.262800	0.01441	N	0.015067	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.14578	0.011	T	0.25363	-1.0134	10	0.44086	T	0.13	1.2864	0.7469	0.00984	0.3669:0.1084:0.1933:0.3314	.	143	Q9Y2B4	T53G5_HUMAN	M	143;127	ENSP00000361811:T143M;ENSP00000438374:T127M	ENSP00000361811:T143M	T	-	2	0	TP53TG5	43437433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-1.808000	0.01234	-2.046000	0.00415	ACG		0.502	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		52	175	0	0	0	1	0	52	175					A	44004019	G	A	44004019	3	1	461	1	0	0	0	0	1	0	0	0	16388	1145	40	1	452	1	TP53TG5	20	44004019	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		44004019	19021501	39	38353											
NHS	4810	broad.mit.edu	37	chrX	17750478	17750478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagccgctacagtgTccgctgccggctgtacaata	11	14	0	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:17750478T>C	ENST00000380060.3	+	8	5125	c.4787T>C	c.(4786-4788)gTc>gCc	p.V1596A	NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1617					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)					CGCTACAGTGTCCGCTGCCGG	0.587																																						ENST00000380060.3																			0				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						c.(4786-4788)gTc>gCc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							51	51	51					X																	17750478		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750478T>C		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.4787T>C	X.37:g.17750478T>C	ENSP00000369400:p.Val1596Ala					NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	p.V1596A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	5125	+	Hepatocellular(33;0.183)		1596					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4787T>C	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444003	0.63067	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.47177	0.85;0.86	5.87	4.71	0.59529	.	0.258804	0.38663	N	0.001611	T	0.56572	0.1994	M	0.62723	1.935	0.40906	D	0.98419	B;B;B;P	0.42757	0.021;0.003;0.003;0.789	B;B;B;P	0.51385	0.027;0.011;0.011;0.668	T	0.59091	-0.7519	10	0.62326	D	0.03	-11.4074	11.1542	0.48478	0.0:0.0726:0.0:0.9274	.	1617;1438;1440;1596	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	A	1596;1440;1438	ENSP00000369400:V1596A;ENSP00000381170:V1440A	ENSP00000369397:V1438A	V	+	2	0	NHS	17660399	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	2.640000	0.46579	0.927000	0.37143	-0.314000	0.08810	GTC		0.587	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		30	63	0	0	0	1	0	30	63					C	17750478	T	C	17750478	3	2	461	1	0	0	0	0	1	0	0	0	10411	1667	58	3	4922	3	NHS	23	17750478	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		17750478	137520082	40	38354											
CDKL5	6792	broad.mit.edu	37	chrX	18600037	18600037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccagaaaatctcttaatcAgccacaatgatgtcctaaaa	4	10	2	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:18600037A>G	ENST00000379989.3	+	8	715	c.430A>G	c.(430-432)Agc>Ggc	p.S144G	CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					TCTCTTAATCAGCCACAATGA	0.303																																						ENST00000379989.3																			0				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						c.(430-432)Agc>Ggc		cyclin-dependent kinase-like 5							109	108	108					X																	18600037		2203	4291	6494	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18600037A>G	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.430A>G	X.37:g.18600037A>G	ENSP00000369325:p.Ser144Gly					CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			8	715	+	Hepatocellular(33;0.183)		144			Protein kinase.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.430A>G	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547776	0.65311	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.44482	0.92;0.92	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.072163	0.85682	D	0.000000	T	0.42698	0.1214	N	0.12637	0.245	0.45366	D	0.998357	D	0.63880	0.993	P	0.58577	0.841	T	0.50841	-0.8780	10	0.87932	D	0	-20.6611	14.088	0.64971	1.0:0.0:0.0:0.0	.	144	O76039	CDKL5_HUMAN	G	144	ENSP00000369332:S144G;ENSP00000369325:S144G	ENSP00000369325:S144G	S	+	1	0	CDKL5	18509958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.354000	0.79424	2.046000	0.60703	0.486000	0.48141	AGC		0.303	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		34	77	0	0	0	1	0	34	77					G	18600037	A	G	18600037	3	3	461	1	0	0	0	0	1	0	0	0	3157	188	7	3	452	3	CDKL5	23	18600037	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	849559	18600037	136670523	41	38355											
CLCN5	1184	broad.mit.edu	37	chrX	49851229	49851229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcggaagcgaaagaccaCccagttgggcaagtatcctg	13	10	0	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:49851229C>T	ENST00000307367.2	+	8	1340	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I|CLCN5_ENST00000376088.3_Missense_Mutation_p.T420I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	350					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)					CGAAAGACCACCCAGTTGGGC	0.512																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1258-1260)aCc>aTc		chloride channel, voltage-sensitive 5							109	87	94					X																	49851229		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851229C>T	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.1049C>T	X.37:g.49851229C>T	ENSP00000304257:p.Thr350Ile					CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000307367.2_Missense_Mutation_p.T350I|CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I	p.T420I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			11	1900	+	Ovarian(276;0.236)		350					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1259C>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326124	0.81580	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.7	5.7	0.88788	Chloride channel, core (2);	0.091017	0.85682	D	0.000000	D	0.91287	0.7253	L	0.39020	1.185	0.80722	D	1	P;P	0.44281	0.831;0.705	P;B	0.49421	0.61;0.359	D	0.90052	0.4150	10	0.31617	T	0.26	0.0253	17.5228	0.87792	0.0:1.0:0.0:0.0	.	350;420	P51795;P51795-2	CLCN5_HUMAN;.	I	420;252;420;350;350	ENSP00000365256:T420I;ENSP00000365259:T420I;ENSP00000365276:T350I;ENSP00000304257:T350I	ENSP00000304257:T350I	T	+	2	0	CLCN5	49737969	1.000000	0.71417	0.921000	0.36526	0.826000	0.46750	7.692000	0.84203	2.408000	0.81797	0.436000	0.28706	ACC		0.512	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			19	34	0	0	0	1	0	19	34					T	49851229	C	T	49851229	3	4	461	1	0	0	0	0	1	0	0	0	3466	507	18	2	1293	2	CLCN5	23	49851229	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	31251192	49851229	105419331	42	38356											
ATRX	546	broad.mit.edu	37	chrX	76920261	76920261	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaaaagcatcttcttGgcaattcttgagagtaaaaa	6	7	5	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76920261G>T	ENST00000373344.5	-	11	4030	c.3816C>A	c.(3814-3816)gcC>gcA	p.A1272A	ATRX_ENST00000395603.3_Silent_p.A1234A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1272	Interaction with DAXX.				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						GCATCTTCTTGGCAATTCTTG	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3814-3816)gcC>gcA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						72	64	67					X																	76920261		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920261G>T	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.3816C>A	X.37:g.76920261G>T						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.A1234A	p.A1272A	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4030	-			1272					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.3816C>A	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	35	1	0	4.3838e-07	1	4.5324e-07	14	35					T	76920261	G	T	76920261	2	4	461	1	0	0	0	0	0	0	0	1	1208	1335	47	4		4	ATRX	23	76920261	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	27069032	76920261	78350299	43	38357											
ATRX	546	broad.mit.edu	37	chrX	76940430	76940430	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctcatctatattacctaCctacattgttcatccattcc	2	13	3	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76940430C>T	ENST00000373344.5	-	8	877		c.e8+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						ATATTACCTACCTACATTGTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e8+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						150	127	135					X																	76940430		2203	4291	6494	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940430C>T	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.662+1G>A	X.37:g.76940430C>T						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	877	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580195	0.86645	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4755	0.90791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76827086	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.415000	0.80131	2.306000	0.77630	0.422000	0.28245	.		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	21	84	0	0	0	1	0	21	84					T	76940430	C	T	76940430	5	4	461	1	0	0	0	0	0	0	1	0	1208	521	18	2	6927	2	ATRX	23	76940430	Splice_Site	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	20169	76940430	78330130	44	38358											
RPS6KA6	27330	broad.mit.edu	37	chrX	83442862	83442862	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gccgccgccgctgaacacttCcatttctcggtcccagggct	10	17	1	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:83442862C>G	ENST00000262752.2	-	1	53	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	RPS6KA6_ENST00000543399.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	16					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						CTGAACACTTCCATTTCTCGG	0.667																																						ENST00000262752.2																			0				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						c.(46-48)Gaa>Caa		ribosomal protein S6 kinase, 90kDa, polypeptide 6							35	31	32					X																	83442862		2202	4300	6502	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83442862C>G	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.46G>C	X.37:g.83442862C>G	ENSP00000262752:p.Glu16Gln					RPS6KA6_ENST00000543399.1_5'UTR	p.E16Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			1	53	-			16					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.46G>C	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918683	0.17982	.	.	ENSG00000072133	ENST00000262752	T	0.70045	-0.45	3.43	2.56	0.30785	.	0.509796	0.17824	N	0.160760	T	0.51398	0.1672	L	0.55481	1.735	0.80722	D	1	B	0.31893	0.345	B	0.24701	0.055	T	0.33979	-0.9847	10	0.13853	T	0.58	.	5.7653	0.18224	0.0:0.8504:0.0:0.1496	.	16	Q9UK32	KS6A6_HUMAN	Q	16	ENSP00000262752:E16Q	ENSP00000262752:E16Q	E	-	1	0	RPS6KA6	83329518	.	.	1.000000	0.80357	0.676000	0.39594	.	.	0.821000	0.34540	0.422000	0.28245	GAA		0.667	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		8	17	0	0	0	1	0	8	17					G	83442862	C	G	83442862	3	3	461	1	0	0	0	0	1	0	0	0	13655	864	30	4	2279	4	RPS6KA6	23	83442862	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	6502432	83442862	71827698	45	38359											
SLC35A3	23443	broad.mit.edu	37	chr1	100477024	100477024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcaagtggctttgctgGggtttactttgagaaaatct	10	5	2	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:100477024G>A	ENST00000370155.3	+	5	961	c.569G>A	c.(568-570)gGg>gAg	p.G190E	SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Missense_Mutation_p.G190E	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	190					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.G190E(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GGCTTTGCTGGGGTTTACTTT	0.338																																					Ovarian(7;298 356 944 2149 6911)	ENST00000465289.1																			1	Substitution - Missense(1)	p.G190E(1)	lung(1)	biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(568-570)gGg>gAg		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							71	73	73					1																	100477024		2203	4300	6503	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100477024G>A	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.569G>A	1.37:g.100477024G>A	ENSP00000359174:p.Gly190Glu					SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.G190E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E	p.G190E	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	5	961	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	190					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.569G>A	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596862	0.86953	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	H	0.97783	4.075	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	0.88551	0.3116	10	0.87932	D	0	-24.9865	16.3773	0.83410	0.0:0.1319:0.8681:0.0	.	190;231;190	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	E	190;190;190;232;190	ENSP00000359174:G190E;ENSP00000418527:G190E;ENSP00000414947:G190E;ENSP00000359172:G232E;ENSP00000401679:G190E	ENSP00000359172:G232E	G	+	2	0	SLC35A3	100249612	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.809000	0.99208	1.310000	0.45006	0.585000	0.79938	GGG		0.338	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		12	25	0	0	0	1	0	12	25					A	100477024	G	A	100477024	3	1	462	1	0	0	0	0	1	0	0	0	14572	1232	43	2	583	2	SLC35A3	1	100477024	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		100477024	148773597	1	38360											
FMN2	56776	broad.mit.edu	37	chr1	240371406	240371406	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccggagcgggcatacccccTccgccccctctacccggagt	10	21	1	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:240371406T>A	ENST00000319653.9	+	5	3524	c.3294T>A	c.(3292-3294)ccT>ccA	p.P1098P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1098	FH1.|Pro-rich.				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)			GCATACCCCCTCCGCCCCCTC	0.731																																						ENST00000319653.9																			0				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						c.(3292-3294)ccT>ccA		formin 2							6	8	7					1																	240371406		1990	4044	6034	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371406T>A	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.3294T>A	1.37:g.240371406T>A							p.P1098P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3524	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1098			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3294T>A	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	19	0	0	0	1	0	5	19					A	240371406	T	A	240371406	2	1	462	1	0	0	0	0	0	0	0	1	5950	1538	54	5		5	FMN2	1	240371406	Silent	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08	139894382	240371406	8879215	2	38361											
LCT	3938	broad.mit.edu	37	chr2	136569943	136569943	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggaatcatcaaagagaTtttcactttcccctatgggc	7	9	3	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:136569943T>A	ENST00000264162.2	-	7	2301	c.2291A>T	c.(2290-2292)aAt>aTt	p.N764I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	764	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)	ATCAAAGAGATTTTCACTTTC	0.433																																						ENST00000264162.2																			0				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						c.(2290-2292)aAt>aTt		lactase							106	108	107					2																	136569943		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569943T>A	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.2291A>T	2.37:g.136569943T>A	ENSP00000264162:p.Asn764Ile						p.N764I	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2301	-			764			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2291A>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	7.046	0.563435	0.13498	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.33438	1.41	5.14	2.73	0.32206	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.492126	0.22976	N	0.053367	T	0.31327	0.0793	L	0.48362	1.52	0.09310	N	1	B	0.26708	0.157	B	0.37650	0.255	T	0.32428	-0.9907	10	0.54805	T	0.06	-6.0318	9.5089	0.39065	0.0:0.1457:0.0:0.8543	.	764	P09848	LPH_HUMAN	I	764;196	ENSP00000264162:N764I	ENSP00000264162:N764I	N	-	2	0	LCT	136286413	0.925000	0.31364	0.005000	0.12908	0.212000	0.24457	4.769000	0.62300	0.986000	0.38683	0.533000	0.62120	AAT		0.433	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		19	160	0	0	0	1	0	19	160					A	136569943	T	A	136569943	3	1	462	1	0	0	0	0	1	0	0	0	8693	1493	52	5	3536	5	LCT	2	136569943	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08		136569943	106629430	3	38362											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	32	0	0	0	1	0	23	32					T	209113112	C	T	209113112	3	4	462	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	72543169	209113112	34086261	4	38363											
XRCC5	7520	broad.mit.edu	37	chr2	216977761	216977761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgttgtgctgtgtatggAcgtgggctttaccatgagta	14	6	0	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:216977761A>G	ENST00000392133.3	+	4	505	c.44A>G	c.(43-45)gAc>gGc	p.D15G	XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	15				MDV -> YSY (in Ref. 10; AA sequence). {ECO:0000305}.	brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|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)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTGTGTATGGACGTGGGCTTT	0.408								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(43-45)gAc>gGc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							173	167	169					2																	216977761		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977761A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.44A>G	2.37:g.216977761A>G	ENSP00000375978:p.Asp15Gly					XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G	p.D15G			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	4	505	+		Renal(323;0.0328)	15	MDV -> YSY (in Ref. 10; AA sequence).				A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.44A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975282	0.74360	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.66280	-0.2;-0.2	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82778	-0.0289	10	0.87932	D	0	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	15	P13010	XRCC5_HUMAN	G	15;15;2	ENSP00000375978:D15G;ENSP00000375977:D15G	ENSP00000375977:D15G	D	+	2	0	XRCC5	216686006	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	8.486000	0.90451	2.150000	0.67090	0.533000	0.62120	GAC		0.408	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		54	70	0	0	0	1	0	54	70					G	216977761	A	G	216977761	3	3	462	1	0	0	0	0	1	0	0	0	17453	275	10	3	50	3	XRCC5	2	216977761	Missense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	7864649	216977761	26221612	5	38364											
COL4A4	1286	broad.mit.edu	37	chr2	227886828	227886828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtcctctcatgcctggCgccccaggaaggcctgggat	13	14	2	0	rs75398993	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:227886828C>T	ENST00000396625.3	-	44	4359	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_ENST00000329662.7_Silent_p.A1381A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1384	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													C|||	11	0.00219649	0.0083	0.0	5008	,	,		13441	0.0		0.0	False		,,,				2504	0.0					ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4150-4152)gcG>gcA		collagen, type IV, alpha 4		C		28,3740		0,28,1856	128	135	133		4152	-7.2	0.7	2	dbSNP_132	133	0,8200		0,0,4100	no	coding-synonymous	COL4A4	NM_000092.4		0,28,5956	TT,TC,CC		0.0,0.7431,0.234		1384/1691	227886828	28,11940	1884	4100	5984	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886828C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4152G>A	2.37:g.227886828C>T						COL4A4_ENST00000329662.7_Silent_p.A1381A	p.A1384A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	44	4359	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1384			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.4152G>A	CCDS42828.1																																																																																				0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		79	168	0	0	0	1	0	79	168					T	227886828	C	T	227886828	2	4	462	1	0	0	0	0	0	0	0	1	3693	755	27	1		1	COL4A4	2	227886828	Silent	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	10909067	227886828	15312545	6	38365											
RTP3	83597	broad.mit.edu	37	chr3	46542360	46542360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcattctcattgttatcGtggtgattgttgtaaaaact	9	5	2	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr3:46542360G>A	ENST00000296142.3	+	2	1242	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	224					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATTGTTATCGTGGTGATTGT	0.378																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(670-672)Gtg>Atg		receptor (chemosensory) transporter protein 3							52	53	52					3																	46542360		2194	4285	6479	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542360G>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"Receptor transporter proteins"	15572	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 3"	607181	"transmembrane protein 7", "receptor transporter protein 3"	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.670G>A	3.37:g.46542360G>A	ENSP00000296142:p.Val224Met						p.V224M	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1242	+			224					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.670G>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	G	9.321	1.058059	0.19987	.	.	ENSG00000163825	ENST00000296142	T	0.21932	1.98	2.21	-2.07	0.07276	.	1.944740	0.03547	N	0.224821	T	0.18215	0.0437	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.46543	0.52	T	0.28996	-1.0026	10	0.87932	D	0	-1.0098	7.3249	0.26549	0.5319:0.0:0.4681:0.0	.	224	Q9BQQ7	RTP3_HUMAN	M	224	ENSP00000296142:V224M	ENSP00000296142:V224M	V	+	1	0	RTP3	46517364	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	-0.670000	0.05256	-0.638000	0.05509	0.563000	0.77884	GTG		0.378	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		16	54	0	0	0	1	0	16	54					A	46542360	G	A	46542360	3	1	462	1	0	0	0	0	1	0	0	0	13735	1145	40	1	676	1	RTP3	3	46542360	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		46542360	151480070	7	38366											
METTL14	57721	broad.mit.edu	37	chr4	119626790	119626790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcctcatggggatcaaaGgaactgtgaagcgtagcaca	12	9	2	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr4:119626790G>A	ENST00000388822.5	+	10	1047	c.880G>A	c.(880-882)Gga>Aga	p.G294R	METTL14_ENST00000506780.1_Missense_Mutation_p.G256R			Q9HCE5	MET14_HUMAN	methyltransferase like 14	294					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGGGATCAAAGGAACTGTGAA	0.388																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(880-882)Gga>Aga		methyltransferase like 14							159	156	157					4																	119626790		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119626790G>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.880G>A	4.37:g.119626790G>A	ENSP00000373474:p.Gly294Arg					METTL14_ENST00000506780.1_Missense_Mutation_p.G256R	p.G294R			Q9HCE5	MTL14_HUMAN			10	1047	+			294					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.880G>A	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179006	0.94846	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.50277	0.75;0.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81597	-0.0860	10	0.87932	D	0	-12.0111	20.0938	0.97831	0.0:0.0:1.0:0.0	.	256;294	D6RBL4;Q9HCE5	.;MTL14_HUMAN	R	294;256	ENSP00000373474:G294R;ENSP00000424111:G256R	ENSP00000373474:G294R	G	+	1	0	METTL14	119846238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.757000	0.94681	0.585000	0.79938	GGA		0.388	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		10	56	0	0	0	1	0	10	56					A	119626790	G	A	119626790	3	1	462	1	0	0	0	0	1	0	0	0	9498	1001	35	2	918	2	METTL14	4	119626790	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		119626790	71527486	8	38367											
SLC12A7	10723	broad.mit.edu	37	chr5	1057736	1057736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgccgcggtgtgggacGcggtgttcctgtcgtggatc	17	12	0	0	rs199620140	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:1057736G>A	ENST00000264930.5	-	22	2919	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	959					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTGTGGGACGCGGTGTTCCT	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		12731	0.001		0.001	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2875-2877)gCg>gTg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G	VAL/ALA	0,4406		0,0,2203	90	92	91		2876	3.2	0	5		91	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC12A7	NM_006598.2	64	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	959/1084	1057736	1,13003	2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057736G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2876C>T	5.37:g.1057736G>A	ENSP00000264930:p.Ala959Val						p.A959V	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		22	2919	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		959					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2876C>T	CCDS34129.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.903	1.207353	0.22205	0.0	1.16E-4	ENSG00000113504	ENST00000264930	T	0.44083	0.93	3.23	3.23	0.37069	.	0.471167	0.21963	U	0.066570	T	0.39009	0.1062	M	0.63428	1.95	0.48236	D	0.999619	B	0.25048	0.117	B	0.17433	0.018	T	0.32587	-0.9901	10	0.32370	T	0.25	.	13.3398	0.60538	0.0:0.0:1.0:0.0	.	959	Q9Y666	S12A7_HUMAN	V	959	ENSP00000264930:A959V	ENSP00000264930:A959V	A	-	2	0	SLC12A7	1110736	0.977000	0.34250	0.013000	0.15412	0.023000	0.10783	6.562000	0.73960	1.532000	0.49169	0.313000	0.20887	GCG		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		17	175	0	0	0	1	0	17	175					A	1057736	G	A	1057736	3	1	462	1	0	0	0	0	1	0	0	0	14388	1087	38	1	387	1	SLC12A7	5	1057736	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		1057736	179857524	9	38368											
HOMER1	9456	broad.mit.edu	37	chr5	78752755	78752755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaataagacacagtaactGcatgcttgctggtgggtacc	11	8	0	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:78752755G>A	ENST00000334082.6	-	2	1534	c.92C>T	c.(91-93)gCa>gTa	p.A31V	HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V|HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	31	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CACAGTAACTGCATGCTTGCT	0.423																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(91-93)gCa>gTa		homer homolog 1 (Drosophila)							222	212	215					5																	78752755		1912	4125	6037	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752755G>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.92C>T	5.37:g.78752755G>A	ENSP00000334382:p.Ala31Val					HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V	p.A31V	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	2	1534	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	31			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.92C>T	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328874	0.81690	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98747	-5.11;-5.11;-5.11	5.72	5.72	0.89469	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.973;0.996;0.995	D	0.99153	1.0859	10	0.87932	D	0	-11.8663	19.879	0.96888	0.0:0.0:1.0:0.0	.	31;31;31	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	V	31	ENSP00000334382:A31V;ENSP00000426651:A31V;ENSP00000282260:A31V	ENSP00000282260:A31V	A	-	2	0	HOMER1	78788511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.062000	0.89475	2.695000	0.91970	0.655000	0.94253	GCA		0.423	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		4	206	0	0	0	1	0	4	206					A	78752755	G	A	78752755	3	1	462	1	0	0	0	0	1	0	0	0	7278	1319	46	2	1004	2	HOMER1	5	78752755	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	77695019	78752755	102162505	10	38369											
NR2F1	7025	broad.mit.edu	37	chr5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgtggcctgtcggatgCggcccacatcgagagcctgc	14	15	0	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|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)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1012-1014)gCg>gTg		nuclear receptor subfamily 2, group F, member 1							70	79	76					5																	92929289		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929289C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1013C>T	5.37:g.92929289C>T	ENSP00000325819:p.Ala338Val					NR2F1_ENST00000506162.1_3'UTR	p.A338V	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2700	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	338						Missense_Mutation	SNP	ENST00000327111.3	37	c.1013C>T	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761144	0.15914	.	.	ENSG00000175745	ENST00000327111	D	0.96365	-3.99	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.360994	0.30219	N	0.010135	D	0.90013	0.6882	N	0.02842	-0.48	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	D	0.84686	0.0720	10	0.16420	T	0.52	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	338	P10589	COT1_HUMAN	V	338	ENSP00000325819:A338V	ENSP00000325819:A338V	A	+	2	0	NR2F1	92955045	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	2.198000	0.42705	2.941000	0.99782	0.655000	0.94253	GCG		0.592	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		4	201	0	0	0	1	0	4	201					T	92929289	C	T	92929289	3	4	462	1	0	0	0	0	1	0	0	0	10627	768	27	1	1023	1	NR2F1	5	92929289	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	14176534	92929289	87985971	11	38370											
FAM172A	83989	broad.mit.edu	37	chr5	93386527	93386527	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtttttatgtgtcttAactgtccctctaagaagata	6	10	2	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:93386527A>C	ENST00000395965.3	-	4	360	c.218T>G	c.(217-219)tTa>tGa	p.L73*	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	73						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TATGTGTCTTAACTGTCCCTC	0.328																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(217-219)tTa>tGa		family with sequence similarity 172, member A							125	127	126					5																	93386527		2203	4300	6503	SO:0001587	stop_gained	83989					endoplasmic reticulum|extracellular region		g.chr5:93386527A>C		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.218T>G	5.37:g.93386527A>C	ENSP00000379294:p.Leu73*					FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27*	p.L73*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			4	360	-			73					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Nonsense_Mutation	SNP	ENST00000395965.3	37	c.218T>G	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	A	38	6.711079	0.97780	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509163	.	.	.	5.35	5.35	0.76521	.	0.074230	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1575	14.6179	0.68562	1.0:0.0:0.0:0.0	.	.	.	.	X	73;27;27	.	ENSP00000379294:L73X	L	-	2	0	FAM172A	93412283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.368000	0.90115	2.152000	0.67230	0.533000	0.62120	TTA		0.328	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		62	72	0	0	0	1	0	62	72					C	93386527	A	C	93386527	4	2	462	1	0	0	0	0	0	1	0	0	5492	372	13	5	1064	5	FAM172A	5	93386527	Nonsense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	457238	93386527	87528733	12	38371											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769051	140769051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcacactgcaggcccgcGaccagggctcgccagcgctc	11	18	1	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:140769051G>A	ENST00000519479.1	+	1	1600	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCAGGGCTC	0.682																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1600-1602)Gac>Aac									32	38	36					5																	140769051		2044	4200	6244	SO:0001583	missense	0							g.chr5:140769051G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1600G>A	5.37:g.140769051G>A	ENSP00000428288:p.Asp534Asn					PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D534N	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1600	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1600G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	36	5.665296	0.96745	.	.	ENSG00000253953	ENST00000519479	T	0.79940	-1.32	5.05	5.05	0.67936	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.93700	0.7987	H	0.97291	3.975	0.42048	D	0.991108	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96029	0.9015	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	534;534	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	534	ENSP00000428288:D534N	ENSP00000428288:D534N	D	+	1	0	PCDHGB4	140749235	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.313000	0.96297	2.503000	0.84419	0.563000	0.77884	GAC		0.682	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		12	31	0	0	0	1	0	12	31					A	140769051	G	A	140769051	3	1	462	1	0	0	0	0	1	0	0	0	11565	1058	37	1	1602	1	PCDHGB4	5	140769051	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	47382524	140769051	40146209	13	38372											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggatgagatgCcggtgtcggggtggacctgc	17	10	0	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547																																						ENST00000357905.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(160-162)gGc>gAc		histone cluster 1, H2bb							194	188	190					6																	26043725		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043725C>T	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"Histones / Replication-dependent"	4751	protein-coding gene	gene with protein product		602803	"H2B histone family, member F", "histone 1, H2bb"	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.161G>A	6.37:g.26043725C>T	ENSP00000350580:p.Gly54Asp						p.G54D	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN			1	160	-			54					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.161G>A	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578593	0.28180	.	.	ENSG00000196226	ENST00000357905	T	0.69435	-0.4	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.82770	0.5109	M	0.93150	3.385	0.58432	D	0.99999	P	0.42161	0.772	P	0.56700	0.804	D	0.86555	0.1837	10	0.87932	D	0	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	54	P33778	H2B1B_HUMAN	D	54	ENSP00000350580:G54D	ENSP00000350580:G54D	G	-	2	0	HIST1H2BB	26151704	1.000000	0.71417	0.578000	0.28575	0.003000	0.03518	7.779000	0.85648	2.498000	0.84270	0.467000	0.42956	GGC		0.547	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		5	234	0	0	0	1	0	5	234					T	26043725	C	T	26043725	3	4	462	1	0	0	0	0	1	0	0	0	7141	739	26	2	223	2	HIST1H2BB	6	26043725	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		26043725	145071342	14	38373											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156983	26156984	+	Frame_Shift_Del	DEL	AG	AG	-													agccaagcctaaggctaaaaAggcaggcgcggccaaggcca					rs200272831		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26156983_26156984delAG	ENST00000304218.3	+	1	425_426	c.365_366delAG	c.(364-366)aagfs	p.K122fs	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	122					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGGCTAAAAAGGCAGGCGCGG	0.639																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(364-366)afs		histone cluster 1, H1e																																				SO:0001589	frameshift_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156983_26156984delAG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.365_366delAG	6.37:g.26156983_26156984delAG	ENSP00000307705:p.Lys122fs						p.K122fs	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	425_426	+			122					Q4VB25	Frame_Shift_Del	DEL	ENST00000304218.3	37	c.365_366delAG	CCDS4586.1																																																																																				0.639	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		7	45						7	45	---	---	---	---	-	26156984	AG	-	26156983	7	5	462	1	0	1	0	1	0	0	0	0	7126	72	3	0	367	0	HIST1H1E	6	26156983	Frame_Shift_Del	DEL	AG	TCGA-TM-A7C5-01A-11D-A32B-08	113258	26156983	144958084	15	38374											
NDUFAF4	29078	broad.mit.edu	37	chr6	97344686	97344686	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgacagcagcttttcAtctttacgagcaatctctcc	6	12	3	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:97344686A>T	ENST00000316149.7	-	2	253	c.174T>A	c.(172-174)gaT>gaA	p.D58E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	58					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GCAGCTTTTCATCTTTACGAG	0.333																																						ENST00000316149.7																			0				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						c.(172-174)gaT>gaA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 4							152	152	152					6																	97344686		2203	4300	6503	SO:0001583	missense	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97344686A>T	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"Mitochondrial respiratory chain complex assembly factors"	21034	protein-coding gene	gene with protein product		611776	"chromosome 6 open reading frame 66", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.174T>A	6.37:g.97344686A>T	ENSP00000358272:p.Asp58Glu					NDUFAF4_ENST00000489477.1_5'UTR	p.D58E	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN			2	253	-			58					B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	c.174T>A	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470737	0.43942	.	.	ENSG00000123545	ENST00000316149	D	0.85258	-1.96	3.93	2.76	0.32466	.	0.110120	0.64402	D	0.000010	D	0.88366	0.6417	M	0.88775	2.98	0.43527	D	0.995802	D	0.56746	0.977	P	0.61132	0.884	D	0.88117	0.2829	10	0.72032	D	0.01	.	7.5506	0.27796	0.8008:0.0:0.1992:0.0	.	58	Q9P032	NDUF4_HUMAN	E	58	ENSP00000358272:D58E	ENSP00000358272:D58E	D	-	3	2	NDUFAF4	97451407	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	0.673000	0.25203	0.676000	0.31285	0.455000	0.32223	GAT		0.333	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		10	143	0	0	0	1	0	10	143					T	97344686	A	T	97344686	3	4	462	1	0	0	0	0	1	0	0	0	10277	214	8	5	361	5	NDUFAF4	6	97344686	Missense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	71187703	97344686	73770381	16	38375											
UTRN	7402	broad.mit.edu	37	chr6	144835835	144835835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggttgaaaatgtccGcgatcaagcccttattttga	8	11	1	2	rs115466543	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:144835835G>A	ENST00000367545.3	+	36	5123	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.				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)		GAAAATGTCCGCGATCAAGCC	0.413													G|||	6	0.00119808	0.0	0.0	5008	,	,		16579	0.006		0.0	False		,,,				2504	0.0					ENST00000367545.3																			0				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						c.(5122-5124)cGc>cAc		utrophin							141	143	142					6																	144835835		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835835G>A	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.5123G>A	6.37:g.144835835G>A	ENSP00000356515:p.Arg1708His						p.R1708H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	36	5123	+		Ovarian(120;0.218)	1708			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5123G>A	CCDS34547.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	16.30	3.085381	0.55861	.	.	ENSG00000152818	ENST00000367545	T	0.50277	0.75	5.34	4.47	0.54385	.	0.148977	0.31156	N	0.008159	T	0.28532	0.0706	L	0.49126	1.545	0.80722	D	1	B	0.18310	0.027	B	0.19946	0.027	T	0.14783	-1.0460	10	0.42905	T	0.14	.	14.2611	0.66085	0.0719:0.0:0.9281:0.0	.	1708	P46939	UTRO_HUMAN	H	1708	ENSP00000356515:R1708H	ENSP00000356515:R1708H	R	+	2	0	UTRN	144877528	1.000000	0.71417	0.771000	0.31576	0.993000	0.82548	4.245000	0.58734	1.398000	0.46701	0.655000	0.94253	CGC		0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			29	156	0	0	0	1	0	29	156					A	144835835	G	A	144835835	3	1	462	1	0	0	0	0	1	0	0	0	17100	1087	38	1	5265	1	UTRN	6	144835835	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	47491149	144835835	26279232	17	38376											
CRHR2	1395	broad.mit.edu	37	chr7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcttcctcacggctgagCgcacctgtggggaaggcaga	13	13	2	2	rs199502493	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:30693212C>T	ENST00000471646.1	-	12	1517	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.R367H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16499	0.002		0.0	False		,,,				2504	0.0					ENST00000471646.1																			1	Substitution - Missense(1)	p.R367H(1)	stomach(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1099-1101)cGc>cAc		corticotropin releasing hormone receptor 2							93	81	85					7																	30693212		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693212C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1100G>A	7.37:g.30693212C>T	ENSP00000418722:p.Arg367His					CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H	p.R367H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			12	1517	-			367					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1100G>A	CCDS5429.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	19.07	3.756228	0.69648	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.58358	0.34;0.34;0.34	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	P;D;D;P	0.72982	0.87;0.979;0.969;0.87	T	0.78994	-0.1984	10	0.87932	D	0	.	15.1361	0.72566	0.0:1.0:0.0:0.0	.	366;394;353;367	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	H	367;394;353	ENSP00000418722:R367H;ENSP00000340943:R394H;ENSP00000344304:R353H	ENSP00000344304:R353H	R	-	2	0	CRHR2	30659737	1.000000	0.71417	0.973000	0.42090	0.013000	0.08279	7.753000	0.85153	2.236000	0.73375	0.563000	0.77884	CGC		0.642	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			11	54	0	0	0	1	0	11	54					T	30693212	C	T	30693212	3	4	462	1	0	0	0	0	1	0	0	0	3872	768	27	1	139	1	CRHR2	7	30693212	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		30693212	128445451	18	38377											
EPHB4	2050	broad.mit.edu	37	chr7	100421309	100421309	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggcgtgagggccgtgGccgtgtccgcatcgctctca	16	13	1	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:100421309G>T	ENST00000358173.3	-	3	836	c.368C>A	c.(367-369)gCc>gAc	p.A123D	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	123	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)					GAGGGCCGTGGCCGTGTCCGC	0.647																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(367-369)gCc>gAc		EPH receptor B4							54	53	53					7																	100421309		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421309G>T	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.368C>A	7.37:g.100421309G>T	ENSP00000350896:p.Ala123Asp					EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D|EPHB4_ENST00000477446.1_5'UTR	p.A123D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	836	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		123					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.368C>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	g	16.60	3.168074	0.57476	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.10382	2.88;2.88	5.23	5.23	0.72850	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000052	T	0.27765	0.0683	L	0.48260	1.515	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.925;0.999;0.999;1.0	T	0.00601	-1.1650	10	0.72032	D	0.01	.	16.2845	0.82712	0.0:0.0:1.0:0.0	.	123;123;123;123;123	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	D	123	ENSP00000353833:A123D;ENSP00000350896:A123D	ENSP00000350896:A123D	A	-	2	0	EPHB4	100259245	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.887000	0.87295	2.452000	0.82932	0.556000	0.70494	GCC		0.647	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		28	37	1	0	2.61193e-14	1	2.67267e-14	28	37					T	100421309	G	T	100421309	3	4	462	1	0	0	0	0	1	0	0	0	5177	1203	42	4	2655	4	EPHB4	7	100421309	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	69728097	100421309	58717354	19	38378											
TOX	9760	broad.mit.edu	37	chr8	59750659	59750659	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttttgctcttctcctAaaccgtcccacattgaagcc	5	15	2	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr8:59750659A>C	ENST00000361421.1	-	5	1125	c.905T>G	c.(904-906)tTa>tGa	p.L302*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	302						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTCTTCTCCTAAACCGTCCCA	0.483																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(904-906)tTa>tGa		thymocyte selection-associated high mobility group box							101	100	100					8																	59750659		2203	4300	6503	SO:0001587	stop_gained	9760					nucleus	DNA binding	g.chr8:59750659A>C		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.905T>G	8.37:g.59750659A>C	ENSP00000354842:p.Leu302*						p.L302*	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	1125	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	302					Q96AV5	Nonsense_Mutation	SNP	ENST00000361421.1	37	c.905T>G	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	39	7.519028	0.98332	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.769	0.78149	1.0:0.0:0.0:0.0	.	.	.	.	X	302;60	.	.	L	-	2	0	TOX	59913213	1.000000	0.71417	0.987000	0.45799	0.885000	0.51271	9.339000	0.96797	2.118000	0.64928	0.482000	0.46254	TTA		0.483	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		43	45	0	0	0	1	0	43	45					C	59750659	A	C	59750659	4	2	462	1	0	0	0	0	0	1	0	0	16374	372	13	5	695	5	TOX	8	59750659	Nonsense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08		59750659	86613363	20	38379											
SHC3	53358	broad.mit.edu	37	chr9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaagtcaagagacctcaTtgagcgcagaacttcaatgc	9	10	3	4	rs200962607		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	RP11-82L18.2_ENST00000429700.1_RNA|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	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						AGAGACCTCATTGAGCGCAGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		19619	0.001		0.0	False		,,,				2504	0.0					ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(505-507)Atg>Gtg		SHC (Src homology 2 domain containing) transforming protein 3							108	101	104					9																	91727511		2203	4299	6502	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91727511T>C	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.505A>G	9.37:g.91727511T>C	ENSP00000364995:p.Met169Val					SHC3_ENST00000375830.1_5'UTR	p.M169V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			2	811	-			169			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.505A>G	CCDS6681.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	19.75	3.885554	0.72410	.	.	ENSG00000148082	ENST00000375835	T	0.14391	2.51	4.96	4.96	0.65561	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.89840	3.065	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	T	0.52064	-0.8625	10	0.87932	D	0	-18.8731	12.2544	0.54615	0.0:0.0:0.0:1.0	.	169	Q92529	SHC3_HUMAN	V	169	ENSP00000364995:M169V	ENSP00000364995:M169V	M	-	1	0	SHC3	90917331	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	5.743000	0.68655	2.099000	0.63709	0.482000	0.46254	ATG		0.413	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		32	61	0	0	0	1	0	32	61					C	91727511	T	C	91727511	3	2	462	1	0	0	0	0	1	0	0	0	14272	1493	52	3	1323	3	SHC3	9	91727511	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08		91727511	49485920	21	38380											
AKAP2	11217	broad.mit.edu	37	chr9	112918685	112918685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccctgaagaggctgccGgaacccagcggcccaagaat	12	14	0	3			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:112918685G>A	ENST00000259318.7	+	3	2596	c.2389G>A	c.(2389-2391)Gga>Aga	p.G797R	AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000482335.1_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G1028R|AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	797										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGAGGCTGCCGGAACCCAGCG	0.507																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3082-3084)Gga>Aga									68	74	72					9																	112918685		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112918685G>A	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.2389G>A	9.37:g.112918685G>A	ENSP00000259318:p.Gly797Arg					AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000259318.7_Missense_Mutation_p.G797R	p.G1028R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			9	3262	+			797					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3082G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655273	0.88056	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.56769	1.78	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	0.999;1.0;0.999;1.0;1.0	T	0.53507	-0.8429	10	0.54805	T	0.06	-23.9329	15.0969	0.72242	0.0:0.0:0.8574:0.1426	.	797;886;887;1028;1028	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	R	1028;1028;1028;1028;886;886;797	ENSP00000363654:G1028R;ENSP00000305861:G1028R;ENSP00000451476:G1028R;ENSP00000421522:G1028R;ENSP00000404782:G886R;ENSP00000363649:G886R;ENSP00000259318:G797R	ENSP00000259318:G797R	G	+	1	0	PALM2-AKAP2;AKAP2	111958506	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.051000	0.93849	1.430000	0.47334	0.655000	0.94253	GGA		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		13	59	0	0	0	1	0	13	59					A	112918685	G	A	112918685	3	1	462	1	0	0	0	0	1	0	0	0	451	1117	39	1	2666	1	AKAP2	9	112918685	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	21191174	112918685	28294746	22	38381											
SVEP1	79987	broad.mit.edu	37	chr9	113238566	113238566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagtctgcagtcaatGtcctctgcatcactacaaaa	5	14	4	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:113238566G>A	ENST00000401783.2	-	14	2853	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000302728.8_Silent_p.D839D|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.D816D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	839					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						TGCAGTCAATGTCCTCTGCAT	0.373																																						ENST00000401783.2																			0				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						c.(2515-2517)gaC>gaT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							129	127	128					9																	113238566		1866	4104	5970	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113238566G>A	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.2517C>T	9.37:g.113238566G>A						SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000374469.1_Silent_p.D816D|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.D839D	p.D839D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			14	2853	-			839					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.2517C>T	CCDS48004.1																																																																																				0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	101	0	0	0	1	0	20	101					A	113238566	G	A	113238566	2	1	462	1	0	0	0	0	0	0	0	1	15417	1368	48	2		2	SVEP1	9	113238566	Silent	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	319881	113238566	27974865	23	38382											
LATS2	26524	broad.mit.edu	37	chr13	21557518	21557518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacactctcaatggccaaaGtcagctctgcgatgtagaac	10	11	3	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr13:21557518G>A	ENST00000382592.4	-	5	2732	c.2327C>T	c.(2326-2328)aCt>aTt	p.T776I	LATS2_ENST00000542899.1_Missense_Mutation_p.T776I	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)		AATGGCCAAAGTCAGCTCTGC	0.502																																						ENST00000382592.4																			0				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						c.(2326-2328)aCt>aTt		large tumor suppressor kinase 2							125	109	114					13																	21557518		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557518G>A	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.2327C>T	13.37:g.21557518G>A	ENSP00000372035:p.Thr776Ile					LATS2_ENST00000542899.1_Missense_Mutation_p.T776I	p.T776I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		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)	5	2732	-		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)	776			Protein kinase.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2327C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762413	0.49468	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.07021	3.23;3.23	5.05	5.05	0.67936	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	0.000001	T	0.05686	0.0149	N	0.01109	-1.01	0.80722	D	1	P	0.42123	0.771	P	0.47528	0.549	T	0.60255	-0.7299	10	0.34782	T	0.22	.	18.6639	0.91481	0.0:0.0:1.0:0.0	.	776	Q9NRM7	LATS2_HUMAN	I	776	ENSP00000372035:T776I;ENSP00000441817:T776I	ENSP00000372035:T776I	T	-	2	0	LATS2	20455518	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	7.755000	0.85180	2.633000	0.89246	0.555000	0.69702	ACT		0.502	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	47	0	0	0	1	0	3	47					A	21557518	G	A	21557518	3	1	462	1	0	0	0	0	1	0	0	0	8647	1029	36	2	955	2	LATS2	13	21557518	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		21557518	93612360	24	38383											
ZFP36L1	677	broad.mit.edu	37	chr14	69256928	69256928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctccgtcttgtagcgGctggagttgacctggccgcc	13	14	1	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr14:69256928G>A	ENST00000439696.2	-	2	640	c.339C>T	c.(337-339)agC>agT	p.S113S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S113S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	113					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTTGTAGCGGCTGGAGTTGA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(337-339)agC>agT		ZFP36 ring finger protein-like 1							63	64	64					14																	69256928		2203	4300	6503	SO:0001819	synonymous_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256928G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.339C>T	14.37:g.69256928G>A			OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Silent_p.S113S|ZFP36L1_ENST00000555997.1_3'UTR	p.S113S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	640	-			113					Q13851	Silent	SNP	ENST00000439696.2	37	c.339C>T	CCDS9791.1																																																																																				0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			4	170	0	0	0	1	0	4	170					A	69256928	G	A	69256928	2	1	462	1	0	0	0	0	0	0	0	1	17643	1194	42	2		2	ZFP36L1	14	69256928	Silent	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		69256928	38092612	25	38384											
MAP1A	4130	broad.mit.edu	37	chr15	43819305	43819305	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcacccttctcttgGggcacagccgagtatgacag	10	14	1	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:43819305G>A	ENST00000300231.5	+	4	6084	c.5634G>A	c.(5632-5634)tgG>tgA	p.W1878*	MAP1A_ENST00000382031.1_Nonsense_Mutation_p.W2116*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1878					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)	CCTTCTCTTGGGGCACAGCCG	0.662																																						ENST00000382031.1																			0				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						c.(6346-6348)tgG>tgA		microtubule-associated protein 1A	Estramustine(DB01196)						37	43	41					15																	43819305		1957	4161	6118	SO:0001587	stop_gained	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819305G>A	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.5634G>A	15.37:g.43819305G>A	ENSP00000300231:p.Trp1878*					MAP1A_ENST00000300231.5_Nonsense_Mutation_p.W1878*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878*	p.W2116*			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6379	+		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)	1878					O95643|Q12973|Q15882|Q9UJT4	Nonsense_Mutation	SNP	ENST00000300231.5	37	c.6348G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	47	13.318538	0.99734	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	.	.	.	4.88	4.88	0.63580	.	0.000000	0.31834	N	0.006983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9862	9.048	0.36358	0.0976:0.0:0.9024:0.0	.	.	.	.	X	2116;1878;1878	.	ENSP00000300231:W1878X	W	+	3	0	MAP1A	41606597	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.593000	0.54001	2.537000	0.85549	0.563000	0.77884	TGG		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	26	0	0	0	1	0	4	26					A	43819305	G	A	43819305	4	1	462	1	0	0	0	0	0	1	0	0	9227	1241	43	2	5636	2	MAP1A	15	43819305	Nonsense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		43819305	58712087	26	38385											
CIB1	10519	broad.mit.edu	37	chr15	90774627	90774627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggacttgatgtctggcGtggctgtgtcactgaacaca	13	8	2	2	rs147405990	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:90774627G>A	ENST00000328649.6	-	4	469	c.308C>T	c.(307-309)aCg>aTg	p.T103M	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	103	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|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 establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GATGTCTGGCGTGGCTGTGTC	0.572																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(307-309)aCg>aTg		calcium and integrin binding 1 (calmyrin)		G	MET/THR	0,4398		0,0,2199	111	91	98		308	4.3	1	15	dbSNP_134	98	4,8592	3.7+/-12.6	0,4,4294	no	missense	CIB1	NM_006384.3	81	0,4,6493	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	103/192	90774627	4,12990	2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774627G>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.308C>T	15.37:g.90774627G>A	ENSP00000333873:p.Thr103Met						p.T103M	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	469	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		103			EF-hand 1.		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.308C>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192836	0.78902	0.0	4.65E-4	ENSG00000185043	ENST00000328649	T	0.10192	2.9	4.35	4.35	0.52113	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36768	-0.9734	10	0.72032	D	0.01	-23.257	16.0477	0.80731	0.0:0.0:1.0:0.0	.	103	Q99828	CIB1_HUMAN	M	103	ENSP00000333873:T103M	ENSP00000333873:T103M	T	-	2	0	CIB1	88575631	1.000000	0.71417	0.995000	0.50966	0.770000	0.43624	8.942000	0.92970	2.254000	0.74563	0.563000	0.77884	ACG		0.572	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			18	7	0	0	0	1	0	18	7					A	90774627	G	A	90774627	3	1	462	1	0	0	0	0	1	0	0	0	3420	1145	40	1	283	1	CIB1	15	90774627	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	46955322	90774627	11756765	27	38386											
VWA3A	146177	broad.mit.edu	37	chr16	22161160	22161160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatggcaggacacgctgGtggagaccacagatgcagcg	15	10	1	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr16:22161160G>A	ENST00000389398.5	+	29	3133	c.3037G>A	c.(3037-3039)Gtg>Atg	p.V1013M	VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M|VWA3A_ENST00000389397.4_Missense_Mutation_p.V115M	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACACGCTGGTGGAGACCAC	0.557																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(343-345)Gtg>Atg		von Willebrand factor A domain containing 3A							34	35	34					16																	22161160		1992	4153	6145	SO:0001583	missense	146177					extracellular region		g.chr16:22161160G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3037G>A	16.37:g.22161160G>A	ENSP00000374049:p.Val1013Met					VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M|VWA3A_ENST00000389398.5_Missense_Mutation_p.V1013M	p.V115M			A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	30	3205	+			1013					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.343G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038742	0.35989	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.08008	3.14;3.14	5.57	4.62	0.57501	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.18593	0.0446	M	0.84156	2.68	0.45239	D	0.998242	B;P	0.38597	0.211;0.639	B;B	0.43701	0.428;0.319	T	0.01027	-1.1476	10	0.45353	T	0.12	.	12.4507	0.55675	0.0816:0.0:0.9184:0.0	.	1013;115	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	M	1013;115;636	ENSP00000374049:V1013M;ENSP00000374048:V115M	ENSP00000299840:V636M	V	+	1	0	VWA3A	22068661	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	5.327000	0.65881	1.348000	0.45733	-0.137000	0.14449	GTG		0.557	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	14	0	0	0	1	0	5	14					A	22161160	G	A	22161160	3	1	462	1	0	0	0	0	1	0	0	0	17237	1261	44	2	3151	2	VWA3A	16	22161160	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		22161160	68193593	28	38387											
CPAMD8	27151	broad.mit.edu	37	chr19	17015067	17015067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagcccccaagtgcatttCgctgctgggacagccacttc	10	14	0	1	rs565062781		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:17015067C>T	ENST00000443236.1	-	32	4392	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1407						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						AAGTGCATTTCGCTGCTGGGA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		12748	0.0		0.0	False		,,,				2504	0.001					ENST00000443236.1																			0				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						c.(4360-4362)cGa>cAa		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							34	36	35					19																	17015067		2002	4156	6158	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015067C>T	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.4361G>A	19.37:g.17015067C>T	ENSP00000402505:p.Arg1454Gln						p.R1454Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			32	4392	-			1407					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4361G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.563704|2.563704	0.45694|0.45694	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.02|3.02	0.786|0.786	0.18590|0.18590	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.53867|0.53867	0.1823|0.1823	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.57468	.|0.821	T|T	0.51553|0.51553	-0.8691|-0.8691	5|9	.|0.72032	.|D	.|0.01	.|.	8.2466|8.2466	0.31693|0.31693	0.0:0.7964:0.0:0.2036|0.0:0.7964:0.0:0.2036	.|.	.|1407	.|Q8IZJ3	.|CPMD8_HUMAN	K|Q	1465|1454	.|.	.|ENSP00000291440:R1454Q	E|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16876067|16876067	1.000000|1.000000	0.71417|0.71417	0.342000|0.342000	0.25602|0.25602	0.575000|0.575000	0.36095|0.36095	3.513000|3.513000	0.53414|0.53414	-0.074000|-0.074000	0.12820|0.12820	0.456000|0.456000	0.33151|0.33151	GAA|CGA		0.652	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	22	0	0	0	1	0	5	22					T	17015067	C	T	17015067	3	4	462	1	0	0	0	0	1	0	0	0	3795	884	31	1	1481	1	CPAMD8	19	17015067	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		17015067	42113916	29	38388											
CIC	23152	broad.mit.edu	37	chr19	42791869	42791869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagaagtaccacgaccTggccttccaggtaacgctgt	11	12	0	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:42791869T>C	ENST00000575354.2	+	5	795	c.755T>C	c.(754-756)cTg>cCg	p.L252P	CIC_ENST00000572681.2_Missense_Mutation_p.L1161P|CIC_ENST00000160740.3_Missense_Mutation_p.L252P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	252					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)				TACCACGACCTGGCCTTCCAG	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3481-3483)cTg>cCg		capicua transcriptional repressor							76	67	70					19																	42791869		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791869T>C	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.755T>C	19.37:g.42791869T>C	ENSP00000458663:p.Leu252Pro					CIC_ENST00000160740.3_Missense_Mutation_p.L252P|CIC_ENST00000575354.2_Missense_Mutation_p.L252P	p.L1161P			Q96RK0	CIC_HUMAN			6	3550	+		Prostate(69;0.00682)	252			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3482T>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483492	0.44147	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.84844	0.5562	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88142	0.2845	8	0.87932	D	0	-7.7221	11.626	0.51145	0.0:0.0:0.0:1.0	.	252	Q96RK0	CIC_HUMAN	P	252	.	ENSP00000160740:L252P	L	+	2	0	CIC	47483709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.364000	0.79526	1.853000	0.53794	0.454000	0.30748	CTG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	16	0	0	0	1	0	18	16					C	42791869	T	C	42791869	3	2	462	1	0	0	0	0	1	0	0	0	3424	1580	55	3	773	3	CIC	19	42791869	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08	25776802	42791869	16337114	30	38389											
ATRN	8455	broad.mit.edu	37	chr20	3615007	3615007	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtttggaagatcaaaCaaagttgttgggcctccaga	12	7	1	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr20:3615007C>T	ENST00000262919.5	+	26	3981	c.3913C>T	c.(3913-3915)Caa>Taa	p.Q1305*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1305					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						GAAGATCAAACAAAGTTGTTG	0.443																																						ENST00000262919.5																			0				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						c.(3913-3915)Caa>Taa		attractin							136	121	126					20																	3615007		2203	4300	6503	SO:0001587	stop_gained	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3615007C>T	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.3913C>T	20.37:g.3615007C>T	ENSP00000262919:p.Gln1305*						p.Q1305*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			26	3981	+			1305					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	ENST00000262919.5	37	c.3913C>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	43	10.408364	0.99399	.	.	ENSG00000088812	ENST00000262919	.	.	.	5.81	5.81	0.92471	.	0.056059	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7485	18.8499	0.92224	0.0:1.0:0.0:0.0	.	.	.	.	X	1305	.	ENSP00000262919:Q1305X	Q	+	1	0	ATRN	3563007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.736000	0.93811	0.655000	0.94253	CAA		0.443	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		17	46	0	0	0	1	0	17	46					T	3615007	C	T	3615007	4	4	462	1	0	0	0	0	0	1	0	0	1206	479	17	2	4037	2	ATRN	20	3615007	Nonsense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		3615007	59410513	31	38390											
WWC3	55841	broad.mit.edu	37	chrX	10085617	10085617	+	Frame_Shift_Del	DEL	G	G	-													cgggcacacgcctcggctatGggggacgaagacttaccagg							TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:10085617delG	ENST00000380861.4	+	11	1909	c.1518delG	c.(1516-1518)atgfs	p.M506fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	506					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(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCGGCTATGGGGGACGAAG	0.721																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1516-1518)atfs		WWC family member 3							6	7	7					X																	10085617		2130	4182	6312	SO:0001589	frameshift_variant	55841							g.chrX:10085617delG	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1518delG	X.37:g.10085617delG	ENSP00000370242:p.Met506fs					WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			11	1909	+			506					A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	ENST00000380861.4	37	c.1518delG	CCDS14136.1																																																																																				0.721	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		2	4						2	4	---	---	---	---	-	10085617	G	-	10085617	7	5	462	1	0	1	0	1	0	0	0	0	17410	1348	47	0	1556	0	WWC3	23	10085617	Frame_Shift_Del	DEL	G	TCGA-TM-A7C5-01A-11D-A32B-08		10085617	145184943	32	38391											
MID2	11043	broad.mit.edu	37	chrX	107084062	107084062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcagctgtgcccatcGcattttggtatcaagctgca	9	12	2	0	rs373511106		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:107084062G>A	ENST00000262843.6	+	2	715	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MID2_ENST00000443968.2_Missense_Mutation_p.R56H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	56					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)|negative regulation of viral transcription (GO:0032897)|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)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R36H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCCCATCGCATTTTGGTA	0.517																																						ENST00000262843.6																			1	Substitution - Missense(1)	p.R36H(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(166-168)cGc>cAc		midline 2		G	HIS/ARG,HIS/ARG	0,3835		0,0,0,1632,571	170	150	157		167,167	5.7	1	X		157	1,6727		0,0,1,2428,1871	no	missense,missense	MID2	NM_012216.3,NM_052817.2	29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	56/736,56/706	107084062	1,10562	2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084062G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.167G>A	X.37:g.107084062G>A	ENSP00000262843:p.Arg56His					MID2_ENST00000443968.2_Missense_Mutation_p.R56H	p.R56H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	715	+			56					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.167G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204492	0.79127	0.0	1.49E-4	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.79749	-1.3;-1.3;-1.3	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.058171	0.64402	D	0.000001	D	0.84502	0.5486	L	0.31752	0.955	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.949	D	0.86026	0.1510	10	0.66056	D	0.02	.	16.1582	0.81680	0.0:0.0:1.0:0.0	.	56;56	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	36;56;56	ENSP00000410730:R36H;ENSP00000262843:R56H;ENSP00000413976:R56H	ENSP00000262843:R56H	R	+	2	0	MID2	106970718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.962000	0.87912	2.506000	0.84524	0.600000	0.82982	CGC		0.517	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		77	62	0	0	0	1	0	77	62					A	107084062	G	A	107084062	3	1	462	1	0	0	0	0	1	0	0	0	9578	1087	38	1	173	1	MID2	23	107084062	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	96998445	107084062	48186498	33	38392											
SPTA1	6708	broad.mit.edu	37	chr1	158615124	158615124	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gataagttctgcactgaagtCctctaaggcctggaaggtgg	13	8	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:158615124C>G	ENST00000368147.4	-	29	4228	c.4048G>C	c.(4048-4050)Gac>Cac	p.D1350H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1350					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACTGAAGTCCTCTAAGGCC	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4048-4050)Gac>Cac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							79	75	77					1																	158615124		1920	4143	6063	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615124C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4048G>C	1.37:g.158615124C>G	ENSP00000357129:p.Asp1350His					SPTA1_ENST00000368147.3_Missense_Mutation_p.D1350H	p.D1350H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			29	4228	-	all_hematologic(112;0.0378)		1350					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4048G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241669	0.58995	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	4.66	3.74	0.42951	.	.	.	.	.	T	0.48277	0.1491	M	0.68952	2.095	0.41198	D	0.986354	P	0.48230	0.907	P	0.56343	0.796	T	0.47873	-0.9083	9	0.36615	T	0.2	.	12.7653	0.57388	0.0:0.5575:0.4425:0.0	.	1350	P02549	SPTA1_HUMAN	H	1350	ENSP00000357130:D1350H;ENSP00000357129:D1350H	ENSP00000357129:D1350H	D	-	1	0	SPTA1	156881748	1.000000	0.71417	0.334000	0.25495	0.944000	0.59088	5.093000	0.64517	1.300000	0.44818	-0.172000	0.13284	GAC		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	131	0	0	0	1	0	8	131					G	158615124	C	G	158615124	3	3	463	1	0	0	0	0	1	0	0	0	15115	855	30	4	3307	4	SPTA1	1	158615124	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		158615124	90635497	1	38393											
OLFML2B	25903	broad.mit.edu	37	chr1	161967952	161967952	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatgctgggatctgaggtCgagggctgtggcagtgctga	19	7	1	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:161967952C>T	ENST00000294794.3	-	6	1560	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	OLFML2B_ENST00000367940.2_Silent_p.S380S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	379					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATCTGAGGTCGAGGGCTGTG	0.627																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1135-1137)tcG>tcA		olfactomedin-like 2B							156	164	162					1																	161967952		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967952C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1137G>A	1.37:g.161967952C>T						OLFML2B_ENST00000367940.2_Silent_p.S380S	p.S379S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1560	-	all_hematologic(112;0.156)		379					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1137G>A	CCDS1236.1																																																																																				0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		5	239	0	0	0	1	0	5	239					T	161967952	C	T	161967952	2	4	463	1	0	0	0	0	0	0	0	1	10858	871	31	1		1	OLFML2B	1	161967952	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	3352828	161967952	87282669	2	38394											
USH2A	7399	broad.mit.edu	37	chr1	215972326	215972326	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcacaatctgtctgccacagCacttctggccatggccatca	7	15	5	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:215972326C>G	ENST00000307340.3	-	50	10267	c.9881G>C	c.(9880-9882)tGc>tCc	p.C3294S	USH2A_ENST00000366943.2_Missense_Mutation_p.C3294S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3294					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)		TCTGCCACAGCACTTCTGGCC	0.527										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(9880-9882)tGc>tCc		Usher syndrome 2A (autosomal recessive, mild)							163	137	146					1																	215972326		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215972326C>G	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.9881G>C	1.37:g.215972326C>G	ENSP00000305941:p.Cys3294Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.C3294S	p.C3294S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	50	10267	-			3294					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9881G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532168	0.85812	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62941	-0.0;-0.01	5.81	4.9	0.64082	Fibronectin, type III (2);	0.000000	0.48286	D	0.000196	T	0.80099	0.4561	M	0.86420	2.815	0.53005	D	0.999964	D	0.76494	0.999	D	0.64144	0.922	D	0.84223	0.0462	10	0.87932	D	0	.	14.541	0.67995	0.0:0.9304:0.0:0.0696	.	3294	O75445	USH2A_HUMAN	S	3294	ENSP00000305941:C3294S;ENSP00000355910:C3294S	ENSP00000305941:C3294S	C	-	2	0	USH2A	214038949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.248000	0.58760	1.454000	0.47793	0.655000	0.94253	TGC		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	113	0	0	0	1	0	9	113					G	215972326	C	G	215972326	3	3	463	1	0	0	0	0	1	0	0	0	17033	710	25	4	5819	4	USH2A	1	215972326	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	54004374	215972326	33278295	3	38395											
RYR2	6262	broad.mit.edu	37	chr1	237604643	237604643	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattggatgtaggggtgagaAaagaagtagatggcatggga	17	1	0	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:237604643A>G	ENST00000366574.2	+	13	1347	c.1030A>G	c.(1030-1032)Aaa>Gaa	p.K344E	RYR2_ENST00000542537.1_Missense_Mutation_p.K328E|RYR2_ENST00000360064.6_Missense_Mutation_p.K342E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	344					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)			AGGGGTGAGAAAAGAAGTAGA	0.378																																						ENST00000366574.2																			0				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						c.(1030-1032)Aaa>Gaa		ryanodine receptor 2 (cardiac)							138	133	135					1																	237604643		1848	4102	5950	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604643A>G	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.1030A>G	1.37:g.237604643A>G	ENSP00000355533:p.Lys344Glu					RYR2_ENST00000360064.6_Missense_Mutation_p.K342E|RYR2_ENST00000542537.1_Missense_Mutation_p.K328E	p.K344E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1347	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	344					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1030A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992946	0.54041	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87887	-2.31;-2.31;-2.31	5.39	5.39	0.77823	MIR motif (1);MIR (2);	0.000000	0.64402	D	0.000002	T	0.81616	0.4860	L	0.38175	1.15	0.80722	D	1	B	0.30326	0.276	B	0.23574	0.047	T	0.80407	-0.1395	10	0.48119	T	0.1	.	15.6974	0.77512	1.0:0.0:0.0:0.0	.	344	Q92736	RYR2_HUMAN	E	344;342;328	ENSP00000355533:K344E;ENSP00000353174:K342E;ENSP00000443798:K328E	ENSP00000353174:K342E	K	+	1	0	RYR2	235671266	1.000000	0.71417	0.943000	0.38184	0.691000	0.40173	4.171000	0.58236	2.163000	0.67991	0.533000	0.62120	AAA		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		69	94	0	0	0	1	0	69	94					G	237604643	A	G	237604643	3	3	463	1	0	0	0	0	1	0	0	0	13769	15	1	3	1080	3	RYR2	1	237604643	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	21632317	237604643	11645978	4	38396											
TRIM58	25893	broad.mit.edu	37	chr1	248039310	248039310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtccccaacaaccctgAgcgatttgacacatggccct	9	14	0	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:248039310A>G	ENST00000366481.3	+	6	1028	c.980A>G	c.(979-981)gAg>gGg	p.E327G	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAACCCTGAGCGATTTGAC	0.592																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(979-981)gAg>gGg		tripartite motif containing 58							115	102	107					1																	248039310		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039310A>G	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.980A>G	1.37:g.248039310A>G	ENSP00000355437:p.Glu327Gly					OR2W3_ENST00000537741.1_5'UTR	p.E327G	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1028	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	327			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.980A>G	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551687	0.65311	.	.	ENSG00000162722	ENST00000366481	T	0.16324	2.35	3.91	3.91	0.45181	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.103731	0.42964	D	0.000632	T	0.28732	0.0712	L	0.57130	1.785	0.80722	D	1	P	0.40197	0.706	P	0.51266	0.664	T	0.03112	-1.1071	10	0.72032	D	0.01	.	11.3901	0.49809	1.0:0.0:0.0:0.0	.	327	Q8NG06	TRI58_HUMAN	G	327	ENSP00000355437:E327G	ENSP00000355437:E327G	E	+	2	0	TRIM58	246105933	1.000000	0.71417	0.905000	0.35620	0.937000	0.57800	5.330000	0.65899	2.016000	0.59253	0.454000	0.30748	GAG		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		5	78	0	0	0	1	0	5	78					G	248039310	A	G	248039310	3	3	463	1	0	0	0	0	1	0	0	0	16528	304	11	3	1002	3	TRIM58	1	248039310	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	10434667	248039310	1211311	5	38397											
GREB1	9687	broad.mit.edu	37	chr2	11702615	11702615	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgagtggacaatgaggaaGaggaagaagagggagaagga	19	3	0	5			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:11702615G>A	ENST00000381486.2	+	3	484	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RNU2-13P_ENST00000515909.1_RNA|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K|RNA5SP85_ENST00000365378.1_RNA|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	62						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAATGAGGAAGAGGAAGAAGA	0.582																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(184-186)Gag>Aag		growth regulation by estrogen in breast cancer 1							133	119	124					2																	11702615		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11702615G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.184G>A	2.37:g.11702615G>A	ENSP00000370896:p.Glu62Lys					GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.E62K|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K	p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	3	484	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		62					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.184G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068105	0.76301	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.19105	3.13;2.17;2.18;3.13	5.21	5.21	0.72293	.	0.188875	0.45361	D	0.000379	T	0.41604	0.1166	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.993	D;D;P	0.83275	0.996;0.994;0.879	T	0.12041	-1.0563	10	0.12103	T	0.63	-42.1301	18.3449	0.90318	0.0:0.0:1.0:0.0	.	62;62;62	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	K	62	ENSP00000370896:E62K;ENSP00000263834:E62K;ENSP00000370892:E62K;ENSP00000234142:E62K	ENSP00000234142:E62K	E	+	1	0	GREB1	11620066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.941000	0.87700	2.443000	0.82685	0.555000	0.69702	GAG		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		10	188	0	0	0	1	0	10	188					A	11702615	G	A	11702615	3	1	463	1	0	0	0	0	1	0	0	0	6760	943	33	2	190	2	GREB1	2	11702615	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		11702615	231496758	6	38398											
ALMS1	7840	broad.mit.edu	37	chr2	73680594	73680594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccacgggtgtatctaatGgtgatttgcttcacagacag	10	9	2	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:73680594G>T	ENST00000264448.6	+	8	7048	c.6937G>T	c.(6937-6939)Ggt>Tgt	p.G2313C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2313					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						TGTATCTAATGGTGATTTGCT	0.448																																						ENST00000264448.6																			0				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						c.(6937-6939)Ggt>Tgt		Alstrom syndrome 1							76	73	74					2																	73680594		1885	4105	5990	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680594G>T	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.6937G>T	2.37:g.73680594G>T	ENSP00000264448:p.Gly2313Cys					ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	p.G2313C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	7048	+			2313					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6937G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974666	0.18736	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16457	3.22;3.22;2.34	5.23	2.42	0.29668	.	0.920024	0.09032	N	0.858543	T	0.20577	0.0495	N	0.22421	0.69	0.09310	N	1	D;D;D	0.63046	0.992;0.985;0.985	P;P;P	0.55999	0.789;0.717;0.789	T	0.20672	-1.0268	10	0.66056	D	0.02	.	7.2079	0.25917	0.2888:0.0:0.7112:0.0	.	2313;2271;2313	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	C	2271;2313;2313	ENSP00000386627:G2271C;ENSP00000264448:G2313C;ENSP00000366944:G2313C	ENSP00000264448:G2313C	G	+	1	0	ALMS1	73534102	0.000000	0.05858	0.001000	0.08648	0.173000	0.22820	0.395000	0.20850	0.288000	0.22398	0.563000	0.77884	GGT		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	134	1	0	0.184627	1	0.184627	5	134					T	73680594	G	T	73680594	3	4	463	1	0	0	0	0	1	0	0	0	535	1348	47	4	6967	4	ALMS1	2	73680594	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	61977979	73680594	169518779	7	38399											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			48	90	0	0	0	1	0	48	90					T	209113112	C	T	209113112	3	4	463	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	135432518	209113112	34086261	8	38400											
RYK	6259	broad.mit.edu	37	chr3	133913946	133913946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgataggagttgcattgTtgggcgtgtctgctctcaga	15	6	2	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:133913946T>C	ENST00000427044.2	-	8	903	c.293A>G	c.(292-294)aAc>aGc	p.N98S	RYK_ENST00000296084.4_Missense_Mutation_p.N288S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	287	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						AGTTGCATTGTTGGGCGTGTC	0.458																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(292-294)aAc>aGc		receptor-like tyrosine kinase							121	119	120					3																	133913946		1962	4143	6105	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133913946T>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.293A>G	3.37:g.133913946T>C	ENSP00000399527:p.Asn98Ser					RYK_ENST00000296084.4_Missense_Mutation_p.N288S	p.N98S			P34925	RYK_HUMAN			8	903	-			287			WIF.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.293A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.06|13.06	2.124492|2.124492	0.37533|0.37533	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;T|.	0.78126|.	2.0;-1.15|.	5.63|5.63	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51058|0.51058	0.1652|0.1652	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.61697|.	0.982;0.99|.	D;D|.	0.72982|.	0.952;0.979|.	T|T	0.43081|0.43081	-0.9413|-0.9413	10|5	0.08599|.	T|.	0.76|.	-7.2052|-7.2052	13.0742|13.0742	0.59077|0.59077	0.0:0.0:0.1343:0.8657|0.0:0.0:0.1343:0.8657	.|.	287;287|.	P34925;P34925-2|.	RYK_HUMAN;.|.	S|A	288;98|270	ENSP00000296084:N288S;ENSP00000399527:N98S|.	ENSP00000296084:N288S|.	N|T	-|-	2|1	0|0	RYK|RYK	135396636|135396636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.645000|7.645000	0.83430|0.83430	1.038000|1.038000	0.40049|0.40049	0.460000|0.460000	0.39030|0.39030	AAC|ACA		0.458	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		27	39	0	0	0	1	0	27	39					C	133913946	T	C	133913946	3	2	463	1	0	0	0	0	1	0	0	0	13767	1725	60	3	999	3	RYK	3	133913946	Missense_Mutation	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		133913946	64108484	9	38401											
RTP4	64108	broad.mit.edu	37	chr3	187088818	187088818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatggaaatggcacgaggaAgtctccagaaatgccagtaa	11	8	1	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:187088818A>T	ENST00000259030.2	+	2	508	c.398A>T	c.(397-399)aAg>aTg	p.K133M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	133					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCACGAGGAAGTCTCCAGAA	0.488																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-399)aAg>aTg		receptor (chemosensory) transporter protein 4							60	59	59					3																	187088818		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187088818A>T	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.398A>T	3.37:g.187088818A>T	ENSP00000259030:p.Lys133Met						p.K133M	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	508	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		133					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.398A>T	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416145	0.42918	.	.	ENSG00000136514	ENST00000259030	T	0.24908	1.83	4.09	-0.272	0.12919	.	1.318140	0.04466	N	0.375247	T	0.42268	0.1195	M	0.64997	1.995	0.09310	N	1	D	0.62365	0.991	D	0.65987	0.94	T	0.19128	-1.0315	10	0.46703	T	0.11	-10.572	3.7017	0.08384	0.4928:0.2913:0.2158:0.0	.	133	Q96DX8	RTP4_HUMAN	M	133	ENSP00000259030:K133M	ENSP00000259030:K133M	K	+	2	0	RTP4	188571512	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	0.370000	0.20433	-0.022000	0.13986	0.533000	0.62120	AAG		0.488	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		29	35	0	0	0	1	0	29	35					T	187088818	A	T	187088818	3	4	463	1	0	0	0	0	1	0	0	0	13736	72	3	5	404	5	RTP4	3	187088818	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	53174872	187088818	10933612	10	38402											
PCDH7	5099	broad.mit.edu	37	chr4	31144318	31144318	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaccgcaacagaaacctcctGaacaaaaagttgacctcatc	6	13	1	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:31144318G>T	ENST00000543491.1	+	3	3615	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAACCTCCTGAACAAAAAGT	0.493																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3613-3615)ctG>ctT		protocadherin 7							107	106	106					4																	31144318		1917	4130	6047	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144318G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3615G>T	4.37:g.31144318G>T							p.L1205L			O60245	PCDH7_HUMAN			3	3615	+			0					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000543491.1	37	c.3615G>T	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	4.583	0.108380	0.08780	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.87	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2263	0.37410	0.0:0.2098:0.5418:0.2485	.	.	.	.	X	887	.	.	E	+	1	0	PCDH7	30753416	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.463000	0.21972	0.892000	0.36259	-0.211000	0.12701	GAA		0.493	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		10	200	1	0	3.86212e-05	1	3.97571e-05	10	200					T	31144318	G	T	31144318	2	4	463	1	0	0	0	0	0	0	0	1	11516	1277	45	4		4	PCDH7	4	31144318	Silent	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		31144318	160009958	11	38403											
ATP10D	57205	broad.mit.edu	37	chr4	47514779	47514779	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcctatgtgaacaaTcgaatacgaacaacaaagta	8	9	0	1	rs202206103		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:47514779T>C	ENST00000273859.3	+	2	491	c.222T>C	c.(220-222)aaT>aaC	p.N74N	ATP10D_ENST00000504445.1_Silent_p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	74					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGTGAACAATCGAATACGAA	0.403																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(220-222)aaT>aaC		ATPase, class V, type 10D							86	87	87					4																	47514779		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514779T>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.222T>C	4.37:g.47514779T>C						ATP10D_ENST00000504445.1_Silent_p.N74N	p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			2	491	+			74					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.222T>C	CCDS3476.1																																																																																				0.403	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		72	84	0	0	0	1	0	72	84					C	47514779	T	C	47514779	2	2	463	1	0	0	0	0	0	0	0	1	1118	1432	50	3		3	ATP10D	4	47514779	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08	16370461	47514779	143639497	12	38404											
PDE8B	8622	broad.mit.edu	37	chr5	76715664	76715664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgacaaaacactttgaAcatgtgaataagtttgtgaa	9	4	0	5			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:76715664A>G	ENST00000264917.5	+	19	2247	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE8B_ENST00000342343.4_Silent_p.E714E|PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000333194.4_Silent_p.E679E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000346042.3_Silent_p.E637E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	734	Catalytic. {ECO:0000250}.				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)	AACACTTTGAACATGTGAATA	0.423																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				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						c.(2200-2202)gaA>gaG		phosphodiesterase 8B							124	106	112					5																	76715664		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76715664A>G	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.2202A>G	5.37:g.76715664A>G						PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000346042.3_Silent_p.E637E|PDE8B_ENST00000333194.4_Silent_p.E679E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000342343.4_Silent_p.E714E	p.E734E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	19	2247	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	734			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.2202A>G	CCDS4037.1																																																																																				0.423	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		48	116	0	0	0	1	0	48	116					G	76715664	A	G	76715664	2	3	463	1	0	0	0	0	0	0	0	1	11654	40	2	3		3	PDE8B	5	76715664	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		76715664	104199596	13	38405											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855467	79855467	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttctgaatttatagcAtaaacaagagctgagtaact	7	6	2	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:79855467A>G	ENST00000338682.3	-	5	1044	c.372T>C	c.(370-372)taT>taC	p.Y124Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	124						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AATTTATAGCATAAACAAGAG	0.443																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(370-372)taT>taC		ankyrin repeat domain 34B							125	128	127					5																	79855467		2203	4300	6503	SO:0001819	synonymous_variant	340120					cytoplasm|nucleus		g.chr5:79855467A>G		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.372T>C	5.37:g.79855467A>G							p.Y124Y	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1044	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	124					B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	c.372T>C	CCDS34194.1																																																																																				0.443	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		5	259	0	0	0	1	0	5	259					G	79855467	A	G	79855467	2	3	463	1	0	0	0	0	0	0	0	1	663	224	8	3		3	ANKRD34B	5	79855467	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	3139803	79855467	101059793	14	38406											
NRG2	9542	broad.mit.edu	37	chr5	139422523	139422531	+	In_Frame_Del	DEL	GCCGCTCTC	GCCGCTCTC	-													ctgctgctcctgctgctgctGccgctctcgctgctgctgct							TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:139422523_139422531delGCCGCTCTC	ENST00000361474.1	-	1	348_356	c.124_132delGAGAGCGGC	c.(124-132)gagagcggcdel	p.ESG42del	NRG2_ENST00000541337.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del|NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	42	Poly-Ser.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctgctgctgccgctctcgctgctgctg	0.708																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(124-132)del		neuregulin 2			,,,,	35,2299		16,3,1148					,,,,	2.6	1			3	71,4909		25,21,2444	no	coding,coding,coding,coding,coding	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	41,24,3592	A1A1,A1R,RR		1.4257,1.4996,1.4493	,,,,	,,,,		106,7208				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422523_139422531delGCCGCTCTC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.124_132delGAGAGCGGC	5.37:g.139422523_139422531delGCCGCTCTC	ENSP00000354910:p.Glu42_Gly44del					NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del|NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000361474.1_In_Frame_Del_p.ESG42del	p.ESG42del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	353_361	-			42			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.124_132delGAGAGCGGC	CCDS4217.1																																																																																				0.708	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		2	4						2	4	---	---	---	---	-	139422531	GCCGCTCTC	-	139422523	7	5	463	1	0	1	0	1	0	0	0	0	10648	1306	46	0	2551	0	NRG2	5	139422523	In_Frame_Del	DEL	GCCGCTCTC	TCGA-TM-A7CA-01A-21D-A33T-08	59567056	139422523	41492737	15	38407											
EFHC1	114327	broad.mit.edu	37	chr6	52288806	52288806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgcaattgttcgacgTccaacagttgggataggcgg	14	8	0	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:52288806T>C	ENST00000371068.5	+	2	229	c.126T>C	c.(124-126)cgT>cgC	p.R42R	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	42						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTGTTCGACGTCCAACAGTTG	0.493																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(124-126)cgT>cgC		EF-hand domain (C-terminal) containing 1							100	93	96					6																	52288806		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288806T>C	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	16406	protein-coding gene	gene with protein product	"myoclonin-1"	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.126T>C	6.37:g.52288806T>C						EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R|EFHC1_ENST00000491749.1_3'UTR	p.R42R	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			2	229	+	Lung NSC(77;0.109)		42					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.126T>C	CCDS4942.1																																																																																				0.493	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		4	179	0	0	0	1	0	4	179					C	52288806	T	C	52288806	2	2	463	1	0	0	0	0	0	0	0	1	4946	1654	58	3		3	EFHC1	6	52288806	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		52288806	118826261	16	38408											
POPDC3	64208	broad.mit.edu	37	chr6	105606400	105606400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtcaggggtgatctgCgtatttctggagttgacatt	14	5	3	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:105606400C>T	ENST00000254765.3	-	4	1099	c.821G>A	c.(820-822)cGc>cAc	p.R274H	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	274					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTGATCTGCGTATTTCTGG	0.348																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(820-822)cGc>cAc		popeye domain containing 3							111	112	111					6																	105606400		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105606400C>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.821G>A	6.37:g.105606400C>T	ENSP00000254765:p.Arg274His					BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA	p.R274H	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			4	1099	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	274					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.821G>A	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077067	0.36662	.	.	ENSG00000132429	ENST00000254765	T	0.18810	2.19	5.99	4.21	0.49690	.	0.795218	0.11407	N	0.567210	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.19666	0.026	T	0.36986	-0.9725	10	0.46703	T	0.11	-13.071	9.3445	0.38100	0.0794:0.1659:0.7546:0.0	.	274	Q9HBV1	POPD3_HUMAN	H	274	ENSP00000254765:R274H	ENSP00000254765:R274H	R	-	2	0	POPDC3	105713093	0.715000	0.27946	0.257000	0.24404	0.963000	0.63663	0.930000	0.28858	1.538000	0.49270	0.591000	0.81541	CGC		0.348	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		86	126	0	0	0	1	0	86	126					T	105606400	C	T	105606400	3	4	463	1	0	0	0	0	1	0	0	0	12256	768	27	1	58	1	POPDC3	6	105606400	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	53317594	105606400	65508667	17	38409											
FAM26E	254228	broad.mit.edu	37	chr6	116836827	116836827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccacatgttatgctcGctgccgatctaaagttagct	8	12	2	0	rs571775020		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:116836827G>A	ENST00000368599.3	+	2	656	c.605G>A	c.(604-606)cGc>cAc	p.R202H	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGTTATGCTCGCTGCCGATCT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.001					ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(604-606)cGc>cAc		family with sequence similarity 26, member E							154	155	155					6																	116836827		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116836827G>A	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.605G>A	6.37:g.116836827G>A	ENSP00000357588:p.Arg202His					TRAPPC3L_ENST00000368602.3_Intron	p.R202H	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	2	656	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	202					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.605G>A	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158090	0.57368	.	.	ENSG00000178033	ENST00000368599	T	0.19250	2.16	6.03	6.03	0.97812	.	0.106321	0.64402	D	0.000002	T	0.23289	0.0563	L	0.43152	1.355	0.45464	D	0.99843	D	0.69078	0.997	P	0.58873	0.847	T	0.00436	-1.1740	10	0.46703	T	0.11	-4.565	12.8091	0.57629	0.0738:0.0:0.9262:0.0	.	202	Q8N5C1	FA26E_HUMAN	H	202	ENSP00000357588:R202H	ENSP00000357588:R202H	R	+	2	0	FAM26E	116943520	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	6.809000	0.75211	2.854000	0.98071	0.655000	0.94253	CGC		0.413	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		6	277	0	0	0	1	0	6	277					A	116836827	G	A	116836827	3	1	463	1	0	0	0	0	1	0	0	0	5550	1087	38	1	611	1	FAM26E	6	116836827	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	11230427	116836827	54278240	18	38410											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519703	113519703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcgtaaacatcccaAatcttttacttcaatatttt	1	10	3	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:113519703A>G	ENST00000284601.3	-	4	1512	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	482					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						AAACATCCCAAATCTTTTACT	0.373																																						ENST00000284601.3																			0				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						c.(1444-1446)Ttg>Ctg		protein phosphatase 1, regulatory subunit 3A							57	56	56					7																	113519703		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519703A>G	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.1444T>C	7.37:g.113519703A>G							p.L482L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1512	-			482					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1444T>C	CCDS5759.1																																																																																				0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		11	207	0	0	0	1	0	11	207					G	113519703	A	G	113519703	2	3	463	1	0	0	0	0	0	0	0	1	12371	11	1	3		3	PPP1R3A	7	113519703	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		113519703	45618960	19	38411											
NUB1	51667	broad.mit.edu	37	chr7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgattccaatcctgaaaccGacaaccgtcaagaaagtcct	6	12	1	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:151072988G>A	ENST00000355851.4	+	13	1527	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	WDR86_ENST00000463000.1_5'Flank|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000568733.1_Missense_Mutation_p.D508N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1522-1524)Gac>Aac		negative regulator of ubiquitin-like proteins 1							221	219	220					7																	151072988		1963	4143	6106	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151072988G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1450G>A	7.37:g.151072988G>A	ENSP00000348110:p.Asp484Asn					NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N|NUB1_ENST00000355851.4_Missense_Mutation_p.D484N	p.D508N			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	13	1588	+			484			UBA 3.		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1522G>A		.	.	.	.	.	.	.	.	.	.	G	0.012	-1.671641	0.00758	.	.	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.42513	0.97	5.29	1.42	0.22433	UBA-like (1);	0.997169	0.08136	N	0.992432	T	0.13329	0.0323	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-13.5194	3.5859	0.07970	0.6533:0.1362:0.0787:0.1318	.	484;470	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	N	470;484	ENSP00000348110:D484N	ENSP00000348110:D484N	D	+	1	0	NUB1	150703921	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	1.025000	0.30090	0.109000	0.17891	-1.421000	0.01109	GAC		0.493	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		5	324	0	0	0	1	0	5	324					A	151072988	G	A	151072988	3	1	463	1	0	0	0	0	1	0	0	0	10714	1058	37	1	1454	1	NUB1	7	151072988	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	37553285	151072988	8065675	20	38412											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635806	34635806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccatccatgtgtttggCccccactccacagctgttgc	7	17	0	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:34635806C>T	ENST00000277010.4	-	4	568	c.495G>A	c.(493-495)ggG>ggA	p.G165G	SIGMAR1_ENST00000378892.1_Silent_p.G76G|SIGMAR1_ENST00000477726.1_Silent_p.G134G|SIGMAR1_ENST00000461426.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	ATGTGTTTGGCCCCCACTCCA	0.647																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.(226-228)ggG>ggA		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						100	92	95					9																	34635806		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635806C>T	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.495G>A	9.37:g.34635806C>T						SIGMAR1_ENST00000277010.4_Silent_p.G165G|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.G134G	p.G76G			Q99720	SGMR1_HUMAN			3	655	-			165					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.228G>A	CCDS6562.1																																																																																				0.647	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		46	53	0	0	0	1	0	46	53					T	34635806	C	T	34635806	2	4	463	1	0	0	0	0	0	0	0	1	14316	726	26	2		2	SIGMAR1	9	34635806	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		34635806	106577625	21	38413											
FAM75A6	389730	broad.mit.edu	37	chr9	43627014	43627014	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgtcctgagatttttggAccctagagggtaaagccaac	11	9	0	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:43627014A>G	ENST00000332857.6	-	4	1701	c.1673T>C	c.(1672-1674)gTc>gCc	p.V558A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	558					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGATTTTTGGACCCTAGAGGG	0.473																																						ENST00000332857.6																			0											c.(1672-1674)gTc>gCc		SPATA31 subfamily A, member 6							2	2	2					9																	43627014		465	1298	1763	SO:0001583	missense	389730							g.chr9:43627014A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1673T>C	9.37:g.43627014A>G	ENSP00000329825:p.Val558Ala						p.V558A	NM_001145196.1	NP_001138668.1					4	1701	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1673T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	6.642	0.486943	0.12641	.	.	ENSG00000185775	ENST00000332857	T	0.12147	2.71	2.42	-1.57	0.08506	.	1.264370	0.05598	N	0.575891	T	0.10680	0.0261	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.26614	0.071	T	0.40905	-0.9538	10	0.48119	T	0.1	-0.0145	2.1373	0.03765	0.4822:0.0:0.2808:0.237	.	558	Q5VVP1	F75A6_HUMAN	A	558	ENSP00000329825:V558A	ENSP00000329825:V558A	V	-	2	0	FAM75A6	43567010	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.014000	0.12656	-0.341000	0.08376	0.315000	0.21342	GTC		0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		16	389	0	0	0	1	0	16	389					G	43627014	A	G	43627014	3	3	463	1	0	0	0	0	1	0	0	0	5622	275	10	3	2362	3	FAM75A6	9	43627014	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	8991208	43627014	97586417	22	38414											
TRIM14	9830	broad.mit.edu	37	chr9	100849858	100849858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtggctcatgccgcccGtcacgtcgtagaaggcgagg	16	12	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:100849858G>A	ENST00000341469.2	-	6	1232	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M|TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	408	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CATGCCGCCCGTCACGTCGTA	0.726																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1222-1224)aCg>aTg		tripartite motif containing 14							8	10	9					9																	100849858		2181	4257	6438	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100849858G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.1223C>T	9.37:g.100849858G>A	ENSP00000344208:p.Thr408Met					TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M	p.T408M	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			6	1232	-		Acute lymphoblastic leukemia(62;0.0559)	408	RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		B30.2/SPRY.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.1223C>T	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577190	0.45902	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000538344	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.97	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.173828	0.38897	N	0.001526	T	0.79673	0.4486	M	0.80422	2.495	0.09310	N	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.63033	0.88;0.88;0.91	T	0.72871	-0.4161	10	0.87932	D	0	.	12.4636	0.55745	0.0:0.0:0.831:0.169	.	189;186;408	B7ZAZ9;B4E0G2;Q14142	.;.;TRI14_HUMAN	M	408;408;408;189	ENSP00000364239:T408M;ENSP00000344208:T408M;ENSP00000343990:T408M;ENSP00000445355:T189M	ENSP00000344208:T408M	T	-	2	0	TRIM14	99889679	0.000000	0.05858	0.390000	0.26220	0.479000	0.33129	0.449000	0.21744	1.063000	0.40649	0.462000	0.41574	ACG		0.726	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		3	26	0	0	0	1	0	3	26					A	100849858	G	A	100849858	3	1	463	1	0	0	0	0	1	0	0	0	16486	1145	40	1	109	1	TRIM14	9	100849858	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	57222844	100849858	40363573	23	38415											
SMC2	10592	broad.mit.edu	37	chr9	106877086	106877086	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttagtggctggagaacgactCtacaatgttgtagtagacac	11	7	1	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:106877086C>A	ENST00000286398.7	+	13	1935	c.1647C>A	c.(1645-1647)ctC>ctA	p.L549L	SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	549	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGAACGACTCTACAATGTTG	0.333																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1645-1647)ctC>ctA		structural maintenance of chromosomes 2							87	83	85					9																	106877086		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106877086C>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1647C>A	9.37:g.106877086C>A						SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L	p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			13	1935	+			549			Flexible hinge.		Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.1647C>A	CCDS35086.1																																																																																				0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			4	117	1	0	0.150653	1	0.152837	4	117					A	106877086	C	A	106877086	2	1	463	1	0	0	0	0	0	0	0	1	14783	900	32	4		4	SMC2	9	106877086	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	6027228	106877086	34336345	24	38416											
STOM	2040	broad.mit.edu	37	chr9	124116908	124116908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcctccttgtaaaatgCgacccaatctaaagatgatg	8	10	1	2	rs115867734	byFrequency	TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:124116908C>T	ENST00000286713.2	-	3	226	c.209G>A	c.(208-210)cGc>cAc	p.R70H	STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	70					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TTGTAAAATGCGACCCAATCT	0.294													C|||	8	0.00159744	0.0008	0.0	5008	,	,		16631	0.006		0.0	False		,,,				2504	0.001					ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.(208-210)cGc>cAc		stomatin							54	53	53					9																	124116908		2203	4300	6503	SO:0001583	missense	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124116908C>T		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"erythrocyte membrane protein band 7.2 (stomatin)"	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.209G>A	9.37:g.124116908C>T	ENSP00000286713:p.Arg70His					STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	p.R70H	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	3	226	-			70					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	c.209G>A	CCDS6830.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	35	5.534916	0.96460	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.95205	-3.64;-3.64	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95778	0.8814	10	0.52906	T	0.07	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	70	P27105	STOM_HUMAN	H	70;19	ENSP00000286713:R70H;ENSP00000445764:R19H	ENSP00000286713:R70H	R	-	2	0	STOM	123156729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.840000	0.97914	0.655000	0.94253	CGC		0.294	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		4	123	0	0	0	1	0	4	123					T	124116908	C	T	124116908	3	4	463	1	0	0	0	0	1	0	0	0	15311	768	27	1	677	1	STOM	9	124116908	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	17239822	124116908	17096523	25	38417											
CRB2	286204	broad.mit.edu	37	chr9	126133603	126133603	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggatgatgggctccgtcacCtggtgatgctcagcttcggg	16	10	2	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:126133603C>G	ENST00000373631.3	+	8	2183	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	CRB2_ENST00000373629.2_Missense_Mutation_p.L396V|CRB2_ENST00000359999.3_Missense_Mutation_p.L728V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	728	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTCCGTCACCTGGTGATGCT	0.667																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2182-2184)Ctg>Gtg		crumbs homolog 2 (Drosophila)							95	98	97					9																	126133603		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133603C>G	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2182C>G	9.37:g.126133603C>G	ENSP00000362734:p.Leu728Val					CRB2_ENST00000359999.3_Missense_Mutation_p.L728V|CRB2_ENST00000373629.2_Missense_Mutation_p.L396V	p.L728V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	2183	+			728			Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2182C>G	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280072	0.40294	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79141	-1.24;-1.24;-1.24	4.92	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.36066	N	0.002812	D	0.83959	0.5367	M	0.84326	2.69	0.47547	D	0.999454	D;D	0.69078	0.996;0.997	P;D	0.68353	0.876;0.957	T	0.79612	-0.1731	10	0.15952	T	0.53	.	7.2826	0.26320	0.0:0.4564:0.0:0.5436	.	728;728	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	V	728;728;396	ENSP00000353092:L728V;ENSP00000362734:L728V;ENSP00000362732:L396V	ENSP00000353092:L728V	L	+	1	2	CRB2	125173424	0.795000	0.28851	0.880000	0.34516	0.447000	0.32167	0.352000	0.20113	0.131000	0.18576	-0.251000	0.11542	CTG		0.667	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		14	196	0	0	0	1	0	14	196					G	126133603	C	G	126133603	3	3	463	1	0	0	0	0	1	0	0	0	3849	680	24	4	2212	4	CRB2	9	126133603	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	2016695	126133603	15079828	26	38418											
TOR1A	1861	broad.mit.edu	37	chr9	132576341	132576343	+	In_Frame_Del	DEL	CTC	CTC	-													tctttggggaaaaatgtcatCtcctcagccactctgcttac					rs80358233		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:132576341_132576343delCTC	ENST00000351698.4	-	5	955_957	c.907_909delGAG	c.(907-909)gagdel	p.E303del		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	303	Interaction with KLC1.		Missing (in DYT1; dominant negative; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; enriched in the nuclear envelope; impairs secretory pathway; produces intracellular misfolded protein aggregates; produces an enlarged perinuclear space; dbSNP:rs80358233). {ECO:0000269|PubMed:9288096}.		ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AAAATGTCATCTCCTCAGCCACT	0.424																																						ENST00000351698.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	GRCh37	CD972174	TOR1A	D		c.(907-909)del		torsin family 1, member A (torsin A)																																				SO:0001651	inframe_deletion	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132576341_132576343delCTC	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.907_909delGAG	9.37:g.132576344_132576346delCTC	ENSP00000345719:p.Glu303del						p.E303del	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			5	955_957	-		Ovarian(14;0.00556)	303		Missing (in DYT1).			B2RB58|Q53Y64|Q96CA0	In_Frame_Del	DEL	ENST00000351698.4	37	c.907_909delGAG	CCDS6930.1																																																																																				0.424	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		119	269						119	269	---	---	---	---	-	132576343	CTC	-	132576341	7	5	463	1	0	1	0	1	0	0	0	0	16368	912	32	0	93	0	TOR1A	9	132576341	In_Frame_Del	DEL	CTC	TCGA-TM-A7CA-01A-21D-A33T-08	6442738	132576341	8637090	27	38419											
CUBN	8029	broad.mit.edu	37	chr10	17110716	17110716	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttataaatgaaggtatgtcTgtaccgcaatactttttatt	7	5	1	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17110716T>C	ENST00000377833.4	-	20	2744	c.2679A>G	c.(2677-2679)acA>acG	p.T893T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	893	CUB 4. {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)	AAGGTATGTCTGTACCGCAAT	0.318																																						ENST00000377833.4																			0				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						c.(2677-2679)acA>acG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111	118	116					10																	17110716		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17110716T>C	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.2679A>G	10.37:g.17110716T>C							p.T893T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			20	2744	-			893			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.2679A>G	CCDS7113.1																																																																																				0.318	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		89	280	0	0	0	1	0	89	280					C	17110716	T	C	17110716	2	2	463	1	0	0	0	0	0	0	0	1	4051	1567	55	3		3	CUBN	10	17110716	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		17110716	118424031	28	38420											
STAM	8027	broad.mit.edu	37	chr10	17726892	17726892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagtatgttcaagagAttttgctagtgaagtaagca	10	3	1	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17726892A>G	ENST00000377524.3	+	4	478	c.263A>G	c.(262-264)gAt>gGt	p.D88G	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	88	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTTCAAGAGATTTTGCTAGT	0.313																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(262-264)gAt>gGt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							102	99	100					10																	17726892		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17726892A>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.263A>G	10.37:g.17726892A>G	ENSP00000366746:p.Asp88Gly					STAM_ENST00000540523.1_Intron	p.D88G	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			4	478	+			88			VHS.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.263A>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790821	0.90367	.	.	ENSG00000136738	ENST00000377524;ENST00000445846	T	0.23348	1.91	5.87	5.87	0.94306	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.043409	0.85682	D	0.000000	T	0.44095	0.1277	M	0.65498	2.005	0.80722	D	1	D	0.53745	0.962	P	0.54965	0.765	T	0.30060	-0.9991	10	0.48119	T	0.1	-29.2769	16.2853	0.82717	1.0:0.0:0.0:0.0	.	88	Q92783	STAM1_HUMAN	G	88;38	ENSP00000366746:D88G	ENSP00000366746:D88G	D	+	2	0	STAM	17766898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.271000	0.95698	2.236000	0.73375	0.528000	0.53228	GAT		0.313	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		48	119	0	0	0	1	0	48	119					G	17726892	A	G	17726892	3	3	463	1	0	0	0	0	1	0	0	0	15247	333	12	3	277	3	STAM	10	17726892	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	616176	17726892	117807855	29	38421											
RET	5979	broad.mit.edu	37	chr10	43615005	43615005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcatcgtggagtacGccaaatacggctccctgcgg	10	15	1	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:43615005G>A	ENST00000355710.3	+	14	2651	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	RET_ENST00000340058.5_Missense_Mutation_p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	807	Inhibitors binding.|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)	CGTGGAGTACGCCAAATACGG	0.701		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)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				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						c.(2419-2421)Gcc>Acc		ret proto-oncogene	Sunitinib(DB01268)						11	12	12					10																	43615005		2186	4258	6444	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615005G>A	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.2419G>A	10.37:g.43615005G>A	ENSP00000347942:p.Ala807Thr					RET_ENST00000340058.5_Missense_Mutation_p.A807T	p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			14	2651	+		Ovarian(717;0.0423)	807			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2419G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359630	0.82353	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.89681	-2.55;-2.55	5.36	5.36	0.76844	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	0.94387	0.8195	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.962;0.987;0.962	D	0.94776	0.7949	10	0.87932	D	0	.	19.0766	0.93165	0.0:0.0:1.0:0.0	.	553;807;807	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	807	ENSP00000347942:A807T;ENSP00000344798:A807T	ENSP00000344798:A807T	A	+	1	0	RET	42935011	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	9.855000	0.99526	2.518000	0.84900	0.313000	0.20887	GCC		0.701	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	16	0	0	0	1	0	8	16					A	43615005	G	A	43615005	3	1	463	1	0	0	0	0	1	0	0	0	13235	1087	38	1	2473	1	RET	10	43615005	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	25888113	43615005	91919742	30	38422											
SMC3	9126	broad.mit.edu	37	chr10	112361522	112361522	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatactaaagaactggaaaaGatgacaaatcggcaaggcat	10	6	0	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:112361522G>C	ENST00000361804.4	+	24	2898	c.2772G>C	c.(2770-2772)aaG>aaC	p.K924N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	924					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACTGGAAAAGATGACAAATC	0.378																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2770-2772)aaG>aaC		structural maintenance of chromosomes 3							107	115	112					10																	112361522		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361522G>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2772G>C	10.37:g.112361522G>C	ENSP00000354720:p.Lys924Asn						p.K924N	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2898	+		Breast(234;0.0848)|Lung NSC(174;0.238)	924					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2772G>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079594	0.55753	.	.	ENSG00000108055	ENST00000361804	T	0.78126	-1.15	5.41	3.52	0.40303	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88186	0.2874	10	0.54805	T	0.06	.	11.2722	0.49147	0.2138:0.0:0.7862:0.0	.	924	Q9UQE7	SMC3_HUMAN	N	924	ENSP00000354720:K924N	ENSP00000354720:K924N	K	+	3	2	SMC3	112351512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.663000	0.54518	1.413000	0.46997	0.585000	0.79938	AAG		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		12	200	0	0	0	1	0	12	200					C	112361522	G	C	112361522	3	2	463	1	0	0	0	0	1	0	0	0	14784	933	33	4	2866	4	SMC3	10	112361522	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	68746517	112361522	23173225	31	38423											
BTBD16	118663	broad.mit.edu	37	chr10	124097550	124097550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccttgaaaatccaaactGtgggcatcccaatctatgta	7	10	1	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:124097550G>A	ENST00000260723.4	+	16	1722	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	BTBD16_ENST00000368994.2_Missense_Mutation_p.V492M	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	491										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)				AATCCAAACTGTGGGCATCCC	0.408																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(1474-1476)Gtg>Atg		BTB (POZ) domain containing 16							150	143	145					10																	124097550		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124097550G>A	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.1471G>A	10.37:g.124097550G>A	ENSP00000260723:p.Val491Met					BTBD16_ENST00000260723.4_Missense_Mutation_p.V491M	p.V492M			Q32M84	BTBDG_HUMAN			16	1725	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	491					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1474G>A	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399822	0.62177	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.22134	1.97;1.97	5.08	4.16	0.48862	.	0.161988	0.29133	N	0.013052	T	0.29491	0.0735	L	0.32530	0.975	0.28659	N	0.906226	D;D	0.67145	0.996;0.996	D;D	0.66497	0.944;0.944	T	0.02698	-1.1122	10	0.59425	D	0.04	-21.7662	8.7947	0.34872	0.1004:0.0:0.8996:0.0	.	492;491	Q32M84-2;Q32M84	.;BTBDG_HUMAN	M	491;492	ENSP00000260723:V491M;ENSP00000357990:V492M	ENSP00000260723:V491M	V	+	1	0	BTBD16	124087540	0.032000	0.19561	1.000000	0.80357	0.994000	0.84299	0.176000	0.16782	2.532000	0.85374	0.650000	0.86243	GTG		0.408	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		6	117	0	0	0	1	0	6	117					A	124097550	G	A	124097550	3	1	463	1	0	0	0	0	1	0	0	0	1541	1377	48	2	1529	2	BTBD16	10	124097550	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	11736028	124097550	11437197	32	38424											
OR5M8	219484	broad.mit.edu	37	chr11	56258358	56258358	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccacagaaggctaggttGtaggtccacatggtctccat	13	10	1	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:56258358G>T	ENST00000327216.2	-	1	513	c.489C>A	c.(487-489)taC>taA	p.Y163*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	163						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)					AGGCTAGGTTGTAGGTCCACA	0.498																																						ENST00000327216.2																			0				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						c.(487-489)taC>taA		olfactory receptor, family 5, subfamily M, member 8							86	85	85					11																	56258358		2201	4296	6497	SO:0001587	stop_gained	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258358G>T	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.489C>A	11.37:g.56258358G>T	ENSP00000323354:p.Tyr163*						p.Y163*	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	513	-	Esophageal squamous(21;0.00352)		163					B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	c.489C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931366	0.52866	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.35	2.46	0.29980	.	0.000000	0.36444	N	0.002598	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-22.3317	8.8028	0.34918	0.1904:0.0:0.8096:0.0	.	.	.	.	X	163	.	ENSP00000323354:Y163X	Y	-	3	2	OR5M8	56014934	0.000000	0.05858	0.811000	0.32455	0.830000	0.47004	-3.243000	0.00543	0.419000	0.25927	0.632000	0.83419	TAC		0.498	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		8	148	1	0	7.48243e-07	1	7.93591e-07	8	148					T	56258358	G	T	56258358	4	4	463	1	0	0	0	0	0	1	0	0	11176	1372	48	4	450	4	OR5M8	11	56258358	Nonsense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		56258358	78748158	33	38425											
MACROD1	28992	broad.mit.edu	37	chr11	63919827	63919827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtccttgcagaagtaatGttcctcccgctgcttgtcac	8	12	1	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:63919827G>T	ENST00000255681.6	-	2	403	c.337C>A	c.(337-339)Cat>Aat	p.H113N	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	113					cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGAAGTAATGTTCCTCCCGC	0.617																																						ENST00000255681.6																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(337-339)Cat>Aat		MACRO domain containing 1							140	131	134					11																	63919827		2201	4297	6498	SO:0001583	missense	28992							g.chr11:63919827G>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.337C>A	11.37:g.63919827G>T	ENSP00000255681:p.His113Asn					MACROD1_ENST00000538595.1_5'UTR	p.H113N	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN			2	403	-			113					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.337C>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971190	0.74246	.	.	ENSG00000133315	ENST00000255681	T	0.18016	2.24	4.38	4.38	0.52667	.	0.070467	0.56097	D	0.000035	T	0.20088	0.0483	L	0.52573	1.65	0.34753	D	0.731978	P	0.45240	0.854	B	0.43018	0.405	T	0.30090	-0.9990	10	0.45353	T	0.12	-17.4388	14.2415	0.65959	0.0:0.0:1.0:0.0	.	113	Q9BQ69	MACD1_HUMAN	N	113	ENSP00000255681:H113N	ENSP00000255681:H113N	H	-	1	0	MACROD1	63676403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.192000	0.65115	2.173000	0.68751	0.462000	0.41574	CAT		0.617	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		65	152	1	0	1.05635e-38	1	1.13761e-38	65	152					T	63919827	G	T	63919827	3	4	463	1	0	0	0	0	1	0	0	0	9145	1377	48	4	676	4	MACROD1	11	63919827	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	7661469	63919827	71086689	34	38426											
FIBP	9158	broad.mit.edu	37	chr11	65653868	65653868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgcatttcctctaccaccTtgaagacccgtttaaagttg	6	14	1	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:65653868T>C	ENST00000338369.2	-	4	549	c.437A>G	c.(436-438)aAg>aGg	p.K146R	FIBP_ENST00000533045.1_Missense_Mutation_p.K143R|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	146					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CTCTACCACCTTGAAGACCCG	0.522																																						ENST00000338369.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(436-438)aAg>aGg		fibroblast growth factor (acidic) intracellular binding protein							140	120	127					11																	65653868		2201	4296	6497	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65653868T>C	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.437A>G	11.37:g.65653868T>C	ENSP00000344572:p.Lys146Arg					FIBP_ENST00000533045.1_Missense_Mutation_p.K143R|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R	p.K146R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	4	549	-			146					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.437A>G	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955220	0.73902	.	.	ENSG00000172500	ENST00000338369;ENST00000357519;ENST00000533045	T;T;T	0.26373	1.74;1.74;1.74	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.998	T	0.11767	-1.0574	10	0.45353	T	0.12	-14.3274	11.4494	0.50142	0.0:0.0:0.0:1.0	.	143;146;146	E9PSD3;O43427-2;O43427	.;.;FIBP_HUMAN	R	146;146;143	ENSP00000344572:K146R;ENSP00000350124:K146R;ENSP00000434043:K143R	ENSP00000344572:K146R	K	-	2	0	FIBP	65410444	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.953000	0.75995	1.799000	0.52666	0.379000	0.24179	AAG		0.522	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		14	223	0	0	0	1	0	14	223					C	65653868	T	C	65653868	3	2	463	1	0	0	0	0	1	0	0	0	5886	1609	56	3	685	3	FIBP	11	65653868	Missense_Mutation	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08	1734041	65653868	69352648	35	38427											
PIWIL4	143689	broad.mit.edu	37	chr11	94328504	94328504	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcaacatctgatttcCagctgatgaaggctgtggct	11	10	1	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:94328504C>T	ENST00000299001.6	+	10	1391	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	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	394					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)				ATCTGATTTCCAGCTGATGAA	0.498																																						ENST00000299001.6																			0				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						c.(1180-1182)Cag>Tag		piwi-like RNA-mediated gene silencing 4							118	107	110					11																	94328504		2201	4298	6499	SO:0001587	stop_gained	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94328504C>T	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.1180C>T	11.37:g.94328504C>T	ENSP00000299001:p.Gln394*					RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	p.Q394*	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			10	1391	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	394					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Nonsense_Mutation	SNP	ENST00000299001.6	37	c.1180C>T	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	38	7.088649	0.98055	.	.	ENSG00000134627	ENST00000299001	.	.	.	4.73	3.79	0.43588	.	0.803257	0.10756	N	0.637760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.5259	13.7234	0.62743	0.0:0.8441:0.1559:0.0	.	.	.	.	X	394	.	ENSP00000299001:Q394X	Q	+	1	0	PIWIL4	93968152	0.747000	0.28283	0.013000	0.15412	0.962000	0.63368	2.356000	0.44116	1.171000	0.42768	0.561000	0.74099	CAG		0.498	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		8	179	0	0	0	1	0	8	179					T	94328504	C	T	94328504	4	4	463	1	0	0	0	0	0	1	0	0	11960	595	21	2	1218	2	PIWIL4	11	94328504	Nonsense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	28674636	94328504	40678012	36	38428											
YAP1	10413	broad.mit.edu	37	chr11	102076697	102076697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctccccagagcccacagggAggcgtcatgggtggcagcaa	15	13	1	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:102076697A>G	ENST00000282441.5	+	5	1264	c.876A>G	c.(874-876)ggA>ggG	p.G292G	YAP1_ENST00000537274.1_Silent_p.G292G|YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000524575.1_Silent_p.G114G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000526343.1_Silent_p.G254G	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	292	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCCACAGGGAGGCGTCATGG	0.537																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(874-876)ggA>ggG		Yes-associated protein 1							48	54	52					11																	102076697		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102076697A>G		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.876A>G	11.37:g.102076697A>G						YAP1_ENST00000526343.1_Silent_p.G254G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000524575.1_Silent_p.G114G|YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000537274.1_Silent_p.G292G	p.G292G	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	5	1264	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	292			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.876A>G	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	A	9.079	0.998749	0.19121	.	.	ENSG00000137693	ENST00000529029	.	.	.	5.21	-6.63	0.01807	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	.	3.1504	0.06485	0.1525:0.0882:0.3492:0.4101	.	.	.	.	G	42	.	.	E	+	2	0	YAP1	101581907	0.733000	0.28132	0.124000	0.21820	0.840000	0.47671	-0.203000	0.09438	-0.820000	0.04318	-0.378000	0.06908	GAG		0.537	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		7	111	0	0	0	1	0	7	111					G	102076697	A	G	102076697	2	3	463	1	0	0	0	0	0	0	0	1	17463	291	11	3		3	YAP1	11	102076697	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	7748193	102076697	32929819	37	38429											
ARID2	196528	broad.mit.edu	37	chr12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-													ggtctctacaccagagtcacTactttaggcggattcgcgaa							TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				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						c.(163-171)actafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123899_46123903delTACTT		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.165_169delTACTT	12.37:g.46123899_46123903delTACTT	ENSP00000335044:p.Thr56fs					ARID2_ENST00000422737.1_5'UTR	p.TTL55fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	337_341	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	55			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.165_169delTACTT	CCDS31783.1																																																																																				0.537	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		36	92						36	92	---	---	---	---	-	46123903	TACTT	-	46123899	7	5	463	1	0	1	0	1	0	0	0	0	915	1509	53	0	171	0	ARID2	12	46123899	Frame_Shift_Del	DEL	TACTT	TCGA-TM-A7CA-01A-21D-A33T-08		46123899	87727996	38	38430											
SLC4A8	9498	broad.mit.edu	37	chr12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttagccaacaagggatgatCgcggatggattattaatccc	10	9	0	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:51882498C>T	ENST00000453097.2	+	18	2519	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	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)		AAGGGATGATCGCGGATGGAT	0.378																																						ENST00000453097.2																			0				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						c.(2302-2304)Cgc>Tgc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							110	101	104					12																	51882498		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51882498C>T	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.2302C>T	12.37:g.51882498C>T	ENSP00000405812:p.Arg768Cys					SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	p.R768C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	18	2519	+			768						Missense_Mutation	SNP	ENST00000453097.2	37	c.2302C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307534	0.60305	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.86694	-2.16;-2.16	4.09	3.18	0.36537	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.997	D	0.95122	0.8247	10	0.87932	D	0	.	10.7712	0.46323	0.3436:0.6564:0.0:0.0	.	795;768;768	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	C	795;768;768;715	ENSP00000351483:R795C;ENSP00000405812:R768C	ENSP00000315789:R768C	R	+	1	0	SLC4A8	50168765	0.996000	0.38824	0.997000	0.53966	0.844000	0.47949	1.978000	0.40598	0.998000	0.38996	0.460000	0.39030	CGC		0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		86	158	0	0	0	1	0	86	158					T	51882498	C	T	51882498	3	4	463	1	0	0	0	0	1	0	0	0	14659	884	31	1	2372	1	SLC4A8	12	51882498	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	5758599	51882498	81969397	39	38431											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0	rs201542496		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	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	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	125	0	0	0	1	0	4	125					C	20056686	T	C	20056686	5	2	463	1	0	0	0	0	0	0	1	0	16428	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		20056686	95113192	40	38432											
CTAGE5	4253	broad.mit.edu	37	chr14	39763257	39763257	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagatgagtcaaaatccctCaaatcacaagtagctgaagt	8	8	3	3	rs199571113		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr14:39763257C>G	ENST00000280083.3	+	7	863	c.549C>G	c.(547-549)ctC>ctG	p.L183L	CTAGE5_ENST00000396165.4_Silent_p.L154L|CTAGE5_ENST00000348007.3_Silent_p.L183L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L|CTAGE5_ENST00000556148.1_Silent_p.L108L|RP11-407N17.3_ENST00000553728.1_Silent_p.L718L|CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000341502.5_Silent_p.L183L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000557038.1_Silent_p.L103L			O15320	CTGE5_HUMAN	CTAGE family, member 5	183					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAAAATCCCTCAAATCACAAG	0.299																																						ENST00000553728.1																			0											c.(2152-2154)ctC>ctG									108	118	115					14																	39763257		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:39763257C>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.549C>G	14.37:g.39763257C>G						CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000341502.5_Silent_p.L183L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000396165.4_Silent_p.L154L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L|CTAGE5_ENST00000280083.3_Silent_p.L183L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000556148.1_Silent_p.L108L|CTAGE5_ENST00000348007.3_Silent_p.L183L|CTAGE5_ENST00000557038.1_Silent_p.L103L	p.L718L							11	2367	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2154C>G	CCDS9674.1																																																																																				0.299	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		18	239	0	0	0	1	0	18	239					G	39763257	C	G	39763257	2	3	463	1	0	0	0	0	0	0	0	1	3994	813	29	4		4	CTAGE5	14	39763257	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		39763257	67586283	41	38433											
NR2F2	7026	broad.mit.edu	37	chr15	96875568	96875568	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacacatcgaGtgcgtggtgtgcggagacaa	14	10	0	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:96875568G>C	ENST00000394166.3	+	1	1623	c.234G>C	c.(232-234)gaG>gaC	p.E78D	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	78					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACACATCGAGTGCGTGGTGT	0.682																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(232-234)gaG>gaC		nuclear receptor subfamily 2, group F, member 2							35	27	30					15																	96875568		2195	4297	6492	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875568G>C	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.234G>C	15.37:g.96875568G>C	ENSP00000377721:p.Glu78Asp					NR2F2_ENST00000421109.2_Intron	p.E78D	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1623	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		78					B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.234G>C	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.884961	0.17540	.	.	ENSG00000185551	ENST00000394166	D	0.96365	-3.99	4.66	4.66	0.58398	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.426017	0.19476	N	0.113337	D	0.90714	0.7086	N	0.17764	0.52	0.80722	D	1	B	0.18863	0.031	B	0.22386	0.039	D	0.85886	0.1425	10	0.11485	T	0.65	.	10.8303	0.46656	0.0934:0.0:0.9066:0.0	.	78	P24468	COT2_HUMAN	D	78	ENSP00000377721:E78D	ENSP00000377721:E78D	E	+	3	2	NR2F2	94676572	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	1.879000	0.39618	2.128000	0.65567	0.563000	0.77884	GAG		0.682	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			8	13	0	0	0	1	0	8	13					C	96875568	G	C	96875568	3	2	463	1	0	0	0	0	1	0	0	0	10628	1020	36	4	283	4	NR2F2	15	96875568	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		96875568	5655824	42	38434											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				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						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	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.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		6	501	0	0	0	1	0	6	501					T	3293588	C	T	3293588	2	4	463	1	0	0	0	0	0	0	0	1	9459	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		3293588	87061165	43	38435											
USP7	7874	broad.mit.edu	37	chr16	8990887	8990887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatgctttctccccaagctCcacggcctttttacattctt	5	14	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:8990887C>T	ENST00000344836.4	-	26	2986	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	USP7_ENST00000381886.4_Missense_Mutation_p.E914K|USP7_ENST00000535863.1_Missense_Mutation_p.E831K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	930					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAAGCTCCACGGCCTTT	0.438																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2788-2790)Gag>Aag		ubiquitin specific peptidase 7 (herpes virus-associated)							289	259	269					16																	8990887		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8990887C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2788G>A	16.37:g.8990887C>T	ENSP00000343535:p.Glu930Lys					USP7_ENST00000381886.4_Missense_Mutation_p.E914K|USP7_ENST00000535863.1_Missense_Mutation_p.E831K	p.E930K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			26	2986	-			930					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2788G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884120	0.51908	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07216	3.21;3.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	N	0.12961	0.28	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.20767	0.031;0.031	T	0.40270	-0.9572	10	0.10377	T	0.69	.	20.1615	0.98135	0.0:1.0:0.0:0.0	.	930;914	Q93009;B7Z815	UBP7_HUMAN;.	K	930;938;831	ENSP00000343535:E930K;ENSP00000443646:E831K	ENSP00000343535:E930K	E	-	1	0	USP7	8898388	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	5.963000	0.70372	2.835000	0.97688	0.650000	0.86243	GAG		0.438	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			23	448	0	0	0	1	0	23	448					T	8990887	C	T	8990887	3	4	463	1	0	0	0	0	1	0	0	0	17085	864	30	2	544	2	USP7	16	8990887	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	5697299	8990887	81363866	44	38436											
ALDOA	226	broad.mit.edu	37	chr16	30081251	30081253	+	In_Frame_Del	DEL	CTC	CTC	-													aagccctgggccctgaccttCtcctacggccgagccctgca							TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:30081251_30081253delCTC	ENST00000566897.1	+	11	2052_2054	c.900_902delCTC	c.(898-903)ttctcc>ttc	p.S301del	ALDOA_ENST00000564546.1_In_Frame_Del_p.S301del|ALDOA_ENST00000564595.2_In_Frame_Del_p.S355del|ALDOA_ENST00000338110.5_In_Frame_Del_p.S301del|ALDOA_ENST00000569798.1_In_Frame_Del_p.S301del|ALDOA_ENST00000395248.1_In_Frame_Del_p.S355del|ALDOA_ENST00000563060.2_In_Frame_Del_p.S301del|ALDOA_ENST00000395240.3_In_Frame_Del_p.S305del|ALDOA_ENST00000569545.1_In_Frame_Del_p.S301del|ALDOA_ENST00000412304.2_In_Frame_Del_p.S301del			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	301					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTGACCTTCTCCTACGGCCGA	0.621																																						ENST00000566897.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(898-903)ttc>tt		aldolase A, fructose-bisphosphate																																				SO:0001651	inframe_deletion	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30081251_30081253delCTC	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.900_902delCTC	16.37:g.30081251_30081253delCTC	ENSP00000455724:p.Ser301del					ALDOA_ENST00000395240.3_In_Frame_Del_p.FS304del|ALDOA_ENST00000569798.1_In_Frame_Del_p.FS300del|ALDOA_ENST00000564546.1_In_Frame_Del_p.FS300del|ALDOA_ENST00000338110.5_In_Frame_Del_p.FS300del|ALDOA_ENST00000412304.2_In_Frame_Del_p.FS300del|ALDOA_ENST00000563060.2_In_Frame_Del_p.FS300del|ALDOA_ENST00000395248.1_In_Frame_Del_p.FS354del|ALDOA_ENST00000564595.2_In_Frame_Del_p.FS354del|ALDOA_ENST00000569545.1_In_Frame_Del_p.FS300del	p.FS300del			P04075	ALDOA_HUMAN			11	2052_2054	+			300					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	In_Frame_Del	DEL	ENST00000566897.1	37	c.900_902delCTC	CCDS10668.1																																																																																				0.621	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		9	67						9	67	---	---	---	---	-	30081253	CTC	-	30081251	7	5	463	1	0	1	0	1	0	0	0	0	507	912	32	0	926	0	ALDOA	16	30081251	In_Frame_Del	DEL	CTC	TCGA-TM-A7CA-01A-21D-A33T-08	21090364	30081251	60273502	45	38437											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	8	15	5	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(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	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							62	48	53					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	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)				TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	p.R342*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	33	0	0	0	1	0	22	33					A	7574003	G	A	7574003	4	1	463	1	0	0	0	0	0	1	0	0	16378	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		7574003	73621207	46	38438											
TP53	7157	broad.mit.edu	37	chr17	7579420	7579420	+	Frame_Shift_Del	DEL	G	G	-													gaagatgacaggggccaggaGggggctggtgcaggggccgc					rs587783062		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7579420delG	ENST00000269305.4	-	4	456	c.267delC	c.(265-267)cccfs	p.P89fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P89fs	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	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (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.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(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)	GGGGCCAGGAGGGGGCTGGTG	0.627		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		32	Deletion - Frameshift(15)|Whole gene deletion(8)|Insertion - Frameshift(6)|Deletion - In frame(3)	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(1)	liver(6)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|prostate(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|urinary_tract(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						c.(265-267)ccfs	Other conserved DNA damage response genes	tumor protein p53							45	52	50					17																	7579420		2202	4299	6501	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579420delG	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.267delC	17.37:g.7579420delG	ENSP00000269305:p.Pro89fs	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)				TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs	p.P89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	399	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	89		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with WWOX.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.267delC	CCDS11118.1																																																																																				0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		59	98						59	98	---	---	---	---	-	7579420	G	-	7579420	7	5	463	1	0	1	0	1	0	0	0	0	16378	987	35	0	1035	0	TP53	17	7579420	Frame_Shift_Del	DEL	G	TCGA-TM-A7CA-01A-21D-A33T-08	5417	7579420	73615790	47	38439											
RPS6KB1	6198	broad.mit.edu	37	chr17	57990092	57990092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcagaaactagtgtgaAcagagggccagaaaaaatca	9	7	2	4			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:57990092A>G	ENST00000225577.4	+	3	260	c.239A>G	c.(238-240)aAc>aGc	p.N80S	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	80					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|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)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTAGTGTGAACAGAGGGCCA	0.368																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(238-240)aAc>aGc		ribosomal protein S6 kinase, 70kDa, polypeptide 1							127	127	127					17																	57990092		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:57990092A>G	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.239A>G	17.37:g.57990092A>G	ENSP00000225577:p.Asn80Ser					RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S	p.N80S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		3	260	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		80					B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.239A>G	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723510	0.89298	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.72615	-0.67;-0.27;-0.34;-0.28	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.78049	2.395	0.80722	D	1	P;D;D	0.89917	0.882;0.997;1.0	P;P;D	0.74348	0.718;0.887;0.983	D	0.85709	0.1318	10	0.62326	D	0.03	.	15.9266	0.79621	1.0:0.0:0.0:0.0	.	80;80;80	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	S	80;80;80;27	ENSP00000441993:N80S;ENSP00000384335:N80S;ENSP00000225577:N80S;ENSP00000376744:N27S	ENSP00000225577:N80S	N	+	2	0	RPS6KB1	55344874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.241000	0.73720	0.528000	0.53228	AAC		0.368	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		106	216	0	0	0	1	0	106	216					G	57990092	A	G	57990092	3	3	463	1	0	0	0	0	1	0	0	0	13656	43	2	3	249	3	RPS6KB1	17	57990092	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	50410672	57990092	23205118	48	38440											
TMC6	11322	broad.mit.edu	37	chr17	76109632	76109636	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-													cctccacggaccctcacctgCtcctctcctccctctccttc					rs564327127|rs189863331		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:76109632_76109636delCTCCT	ENST00000590602.1	-	19	2506_2510	c.2347_2351delAGGAG	c.(2347-2352)aggagcfs	p.RS783fs	TNRC6C-AS1_ENST00000589217.1_RNA|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	783					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)			CCCTCACCTGCTCCTCTCCTCCCTC	0.576																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(2347-2352)cfs		transmembrane channel-like 6																																				SO:0001589	frameshift_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76109632_76109636delCTCCT	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.2347_2351delAGGAG	17.37:g.76109637_76109641delCTCCT	ENSP00000465261:p.Arg783fs					TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000592076.1_5'UTR	p.RS783fs			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		19	2506_2510	-			783					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Frame_Shift_Del	DEL	ENST00000590602.1	37	c.2347_2351delAGGAG	CCDS32748.1																																																																																				0.576	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			37	80						37	80	---	---	---	---	-	76109636	CTCCT	-	76109632	7	5	463	1	0	1	0	1	0	0	0	0	15986	797	28	0	74	0	TMC6	17	76109632	Frame_Shift_Del	DEL	CTCCT	TCGA-TM-A7CA-01A-21D-A33T-08	18119540	76109632	5085578	49	38441											
CEP76	79959	broad.mit.edu	37	chr18	12686414	12686415	+	Frame_Shift_Del	DEL	AT	AT	-													ccagctcgaagtggtttaacAtaggaacagactggtctatt							TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr18:12686414_12686415delAT	ENST00000262127.2	-	8	1193_1194	c.968_969delAT	c.(967-969)tatfs	p.Y323fs	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|PSMG2_ENST00000589405.1_3'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	323					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTTTAACATAGGAACAGAC	0.396																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(967-969)tfs		centrosomal protein 76kDa																																				SO:0001589	frameshift_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12686414_12686415delAT	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.968_969delAT	18.37:g.12686414_12686415delAT	ENSP00000262127:p.Tyr323fs					CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|RP11-973H7.2_ENST00000585331.1_RNA	p.Y323fs	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			8	1193_1194	-			323					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Frame_Shift_Del	DEL	ENST00000262127.2	37	c.968_969delAT	CCDS11861.1																																																																																				0.396	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		16	270						16	270	---	---	---	---	-	12686415	AT	-	12686414	7	5	463	1	0	1	0	1	0	0	0	0	3261	224	8	0	1030	0	CEP76	18	12686414	Frame_Shift_Del	DEL	AT	TCGA-TM-A7CA-01A-21D-A33T-08		12686414	65390834	50	38442											
FAM125A	93343	broad.mit.edu	37	chr19	17531345	17531345	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcccccttccacccccAgaacccgcaggagaacgtgg	10	18	0	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:17531345A>G	ENST00000317040.7	+	3	1244		c.e3-1		MVB12A_ENST00000543795.1_Splice_Site|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Splice_Site|MVB12A_ENST00000529939.1_Splice_Site|MVB12A_ENST00000392702.2_Splice_Site|CTD-2521M24.8_ENST00000597028.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A						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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										TTCCACCCCCAGAACCCGCAG	0.672																																						ENST00000317040.7																			0											c.e3-1		multivesicular body subunit 12A							56	57	57					19																	17531345		2203	4300	6503	SO:0001630	splice_region_variant	93343							g.chr19:17531345A>G	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"family with sequence similarity 125, member A"	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.190-1A>G	19.37:g.17531345A>G						CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Splice_Site|MVB12A_ENST00000392702.2_Splice_Site|MVB12A_ENST00000543795.1_Splice_Site|MVB12A_ENST00000529939.1_Splice_Site								3	1244	+								Q96I18	Splice_Site	SNP	ENST00000317040.7	37		CCDS12359.1	.	.	.	.	.	.	.	.	.	.	A	8.576	0.881116	0.17467	.	.	ENSG00000141971	ENST00000317040;ENST00000528659;ENST00000392702;ENST00000529939;ENST00000528515;ENST00000543795	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3617	0.32363	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM125A	17392345	0.998000	0.40836	0.933000	0.37362	0.088000	0.18126	4.610000	0.61155	1.409000	0.46915	0.397000	0.26171	.		0.672	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401	Intron	20	37	0	0	0	1	0	20	37					G	17531345	A	G	17531345	5	3	463	1	0	0	0	0	0	0	1	0	5427	202	7	3	198	3	FAM125A	19	17531345	Splice_Site	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		17531345	41597638	51	38443											
HAPLN4	404037	broad.mit.edu	37	chr19	19371787	19371787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtagctgccgaatgcccGgtgctgggggcctagtgcca	16	12	0	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:19371787G>A	ENST00000291481.7	-	3	382	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	107	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCGAATGCCCGGTGCTGGGGG	0.701																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(319-321)Cgg>Tgg		hyaluronan and proteoglycan link protein 4							44	48	47					19																	19371787		2203	4299	6502	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371787G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.319C>T	19.37:g.19371787G>A	ENSP00000291481:p.Arg107Trp					AC138430.4_ENST00000586064.2_RNA	p.R107W	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	382	-			107			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.319C>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124897	0.77436	.	.	ENSG00000187664	ENST00000291481	T	0.66815	-0.23	4.52	0.858	0.19030	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.072477	0.50627	D	0.000118	T	0.80276	0.4593	M	0.83118	2.625	0.34359	D	0.690704	D	0.89917	1.0	D	0.91635	0.999	D	0.85598	0.1250	10	0.87932	D	0	-33.3645	11.6632	0.51358	0.0:0.0:0.4084:0.5916	.	107	Q86UW8	HPLN4_HUMAN	W	107	ENSP00000291481:R107W	ENSP00000291481:R107W	R	-	1	2	HAPLN4	19232787	0.001000	0.12720	0.995000	0.50966	0.982000	0.71751	-0.036000	0.12185	0.502000	0.28037	0.561000	0.74099	CGG		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	136	0	0	0	1	0	4	136					A	19371787	G	A	19371787	3	1	463	1	0	0	0	0	1	0	0	0	6957	1115	39	1	901	1	HAPLN4	19	19371787	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	1840442	19371787	39757196	52	38444											
DLL3	10683	broad.mit.edu	37	chr19	39989627	39989627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaaggccatggtctccccaCggatgtccgggctcctctcc	11	16	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:39989627C>G	ENST00000205143.4	+	1	20	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G	DLL3_ENST00000356433.5_Missense_Mutation_p.R5G|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	5					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTCTCCCCACGGATGTCCGG	0.622																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(13-15)Cgg>Ggg		delta-like 3 (Drosophila)							106	89	95					19																	39989627		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39989627C>G	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.13C>G	19.37:g.39989627C>G	ENSP00000205143:p.Arg5Gly					DLL3_ENST00000356433.5_Missense_Mutation_p.R5G|DLL3_ENST00000600579.1_3'UTR	p.R5G	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	20	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		5					E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.13C>G	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808921	0.16537	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89617	-2.46;-2.54	3.96	1.7	0.24286	.	0.607555	0.13296	N	0.398639	T	0.75925	0.3916	N	0.08118	0	0.09310	N	1	B;B;B	0.19817	0.011;0.039;0.011	B;B;B	0.17098	0.011;0.011;0.017	T	0.57476	-0.7805	9	.	.	.	.	11.4129	0.49935	0.3195:0.6804:0.0:0.0	.	5;5;5	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	G	5	ENSP00000348810:R5G;ENSP00000205143:R5G	.	R	+	1	2	DLL3	44681467	0.070000	0.21116	0.000000	0.03702	0.011000	0.07611	0.493000	0.22451	-0.037000	0.13646	-1.367000	0.01198	CGG		0.622	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			9	172	0	0	0	1	0	9	172					G	39989627	C	G	39989627	3	3	463	1	0	0	0	0	1	0	0	0	4567	527	19	4	15	4	DLL3	19	39989627	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	20617840	39989627	19139356	53	38445											
PROKR2	128674	broad.mit.edu	37	chr20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccccgctgggagggaCgccagtgcagcagcatcatc	13	15	1	0	rs576243101		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr20:5282783C>T	ENST00000217270.3	-	2	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R353H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		24072	0.0		0.0	False		,,,				2504	0.0					ENST00000546004.1																			1	Substitution - Missense(1)	p.R353H(1)	ovary(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(1057-1059)cGt>cAt		prokineticin receptor 2							206	166	179					20																	5282783		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282783C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1058G>A	20.37:g.5282783C>T	ENSP00000217270:p.Arg353His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R353H	p.R353H			Q8NFJ6	PKR2_HUMAN			3	1304	-			353					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.1058G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999680	0.54147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	4.1	0.47936	.	0.060269	0.64402	D	0.000009	T	0.34048	0.0884	M	0.62723	1.935	0.49213	D	0.999764	P	0.49447	0.924	B	0.40038	0.317	T	0.23084	-1.0198	10	0.44086	T	0.13	.	11.623	0.51130	0.0:0.9101:0.0:0.0899	.	353	Q8NFJ6	PKR2_HUMAN	H	353	ENSP00000440790:R353H;ENSP00000217270:R353H	ENSP00000217270:R353H	R	-	2	0	PROKR2	5230783	0.141000	0.22595	0.989000	0.46669	0.516000	0.34256	0.683000	0.25349	2.370000	0.80446	0.655000	0.94253	CGT		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		40	107	0	0	0	1	0	40	107					T	5282783	C	T	5282783	3	4	463	1	0	0	0	0	1	0	0	0	12553	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		5282783	57742737	54	38446											
ATRX	546	broad.mit.edu	37	chrX	76890157	76890158	+	Frame_Shift_Del	DEL	CA	CA	-													ggagatttctttgtttttttCacagactcacagcagcaatc							TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chrX:76890157_76890158delCA	ENST00000373344.5	-	17	4950_4951	c.4736_4737delTG	c.(4735-4737)gtgfs	p.V1579fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1579					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						TTGTTTTTTTCACAGACTCACA	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4735-4737)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890157_76890158delCA	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.4736_4737delTG	X.37:g.76890159_76890160delCA	ENSP00000362441:p.Val1579fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs	p.V1579fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4950_4951	-			1579					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4736_4737delTG	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		162	32						162	32	---	---	---	---	-	76890158	CA	-	76890157	7	5	463	1	0	1	0	1	0	0	0	0	1208	813	29	0	2817	0	ATRX	23	76890157	Frame_Shift_Del	DEL	CA	TCGA-TM-A7CA-01A-21D-A33T-08		76890157	78380403	55	38447											
THRAP3	9967	broad.mit.edu	37	chr1	36752690	36752690	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catcccagatgggctcaactCtgccgagtggtgccgggtat	13	12	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36752690C>G	ENST00000354618.5	+	4	1083	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	287	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCTCAACTCTGCCGAGTGG	0.602			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(859-861)Ctg>Gtg		thyroid hormone receptor associated protein 3							75	76	76					1																	36752690		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752690C>G	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.859C>G	1.37:g.36752690C>G	ENSP00000346634:p.Leu287Val					THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1083	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	287			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.859C>G	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	1.319	-0.600134	0.03744	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13196	2.61;2.61	5.85	2.89	0.33648	.	0.501528	0.17975	N	0.155726	T	0.08935	0.0221	L	0.44542	1.39	0.21445	N	0.999684	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.11182	T	0.66	0.1294	3.0006	0.06012	0.2593:0.4832:0.1192:0.1383	.	287	Q9Y2W1	TR150_HUMAN	V	287	ENSP00000346634:L287V;ENSP00000433825:L287V	ENSP00000346634:L287V	L	+	1	2	THRAP3	36525277	0.001000	0.12720	0.879000	0.34478	0.223000	0.24884	0.039000	0.13884	0.336000	0.23639	-0.176000	0.13171	CTG		0.602	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		29	55	0	0	0	1	0	29	55					G	36752690	C	G	36752690	3	3	464	1	0	0	0	0	1	0	0	0	15871	912	32	4	865	4	THRAP3	1	36752690	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		36752690	212497931	1	38448											
CELSR2	1952	broad.mit.edu	37	chr1	109810235	109810235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacctcttcaactgcacgTccatcaccttctcagaactg	4	16	4	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:109810235T>C	ENST00000271332.3	+	16	6140	c.6079T>C	c.(6079-6081)Tcc>Ccc	p.S2027P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2027					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)		CAACTGCACGTCCATCACCTT	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				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						c.(6079-6081)Tcc>Ccc		cadherin, EGF LAG seven-pass G-type receptor 2							111	110	110					1																	109810235		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810235T>C	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.6079T>C	1.37:g.109810235T>C	ENSP00000271332:p.Ser2027Pro						p.S2027P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	16	6140	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2027					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6079T>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626263	0.66901	.	.	ENSG00000143126	ENST00000271332	T	0.72835	-0.69	4.6	4.6	0.57074	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	T	0.77405	0.4125	M	0.84683	2.71	0.52099	D	0.999943	D	0.71674	0.998	D	0.64410	0.925	T	0.81382	-0.0958	9	0.87932	D	0	.	6.9851	0.24723	0.1466:0.0:0.1526:0.7008	.	2027	Q9HCU4	CELR2_HUMAN	P	2027	ENSP00000271332:S2027P	ENSP00000271332:S2027P	S	+	1	0	CELSR2	109611758	0.983000	0.35010	0.285000	0.24819	0.872000	0.50106	2.083000	0.41615	1.933000	0.56026	0.402000	0.26972	TCC		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		24	55	0	0	0	1	0	24	55					C	109810235	T	C	109810235	3	2	464	1	0	0	0	0	1	0	0	0	3222	1667	58	3	6141	3	CELSR2	1	109810235	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	73057545	109810235	139440386	2	38449											
OTOF	9381	broad.mit.edu	37	chr2	26690046	26690046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgaagcaagttgaaaGtgtgcagccagtcctcaaag	11	11	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:26690046G>A	ENST00000272371.2	-	35	4409	c.4283C>T	c.(4282-4284)aCt>aTt	p.T1428I	OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000402415.3_Missense_Mutation_p.T738I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1428					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGTTGAAAGTGTGCAGCCA	0.597																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4282-4284)aCt>aTt		otoferlin							75	71	72					2																	26690046		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26690046G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4283C>T	2.37:g.26690046G>A	ENSP00000272371:p.Thr1428Ile					OTOF_ENST00000402415.3_Missense_Mutation_p.T738I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I	p.T1428I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4409	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1428					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4283C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489772	0.84962	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;D;D	0.82433	-1.33;-1.33;-1.35;-1.61;-1.61	5.06	5.06	0.68205	.	0.142359	0.64402	D	0.000006	D	0.87229	0.6125	M	0.71036	2.16	0.80722	D	1	P;B;P;B	0.51537	0.911;0.182;0.946;0.182	P;B;P;B	0.51385	0.649;0.126;0.668;0.177	D	0.87209	0.2246	10	0.42905	T	0.14	-18.0387	18.3847	0.90463	0.0:0.0:1.0:0.0	.	1428;661;738;661	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	661;661;738;1428;1428	ENSP00000345137:T661I;ENSP00000344521:T661I;ENSP00000383906:T738I;ENSP00000272371:T1428I;ENSP00000385255:T1428I	ENSP00000272371:T1428I	T	-	2	0	OTOF	26543550	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	9.779000	0.99018	2.506000	0.84524	0.655000	0.94253	ACT		0.597	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	107	0	0	0	1	0	4	107					A	26690046	G	A	26690046	3	1	464	1	0	0	0	0	1	0	0	0	11303	1029	36	2	1943	2	OTOF	2	26690046	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		26690046	216509327	3	38450											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105912881	105912881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcctcttctactctgcGgcttgctagaagatcctgta	8	12	3	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:105912881G>A	ENST00000393359.2	-	4	1396	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	324					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCTACTCTGCGGCTTGCTAGA	0.403																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(970-972)Cgc>Tgc		transforming growth factor, beta receptor associated protein 1							94	96	95					2																	105912881		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105912881G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.970C>T	2.37:g.105912881G>A	ENSP00000377027:p.Arg324Cys					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C	p.R324C			Q8WUH2	TGFA1_HUMAN			4	1396	-			324					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.970C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808420	0.70797	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.44482	0.92;0.92	5.91	5.91	0.95273	.	0.523774	0.22611	N	0.057824	T	0.40956	0.1138	L	0.29908	0.895	0.58432	D	0.999997	D	0.53151	0.958	P	0.44860	0.462	T	0.31138	-0.9954	10	0.59425	D	0.04	-2.4023	20.2985	0.98592	0.0:0.0:1.0:0.0	.	324	Q8WUH2	TGFA1_HUMAN	C	324	ENSP00000377027:R324C;ENSP00000258449:R324C	ENSP00000258449:R324C	R	-	1	0	TGFBRAP1	105279313	1.000000	0.71417	0.044000	0.18714	0.682000	0.39822	9.192000	0.94947	2.793000	0.96121	0.655000	0.94253	CGC		0.403	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	111	0	0	0	1	0	4	111					A	105912881	G	A	105912881	3	1	464	1	0	0	0	0	1	0	0	0	15821	1116	39	1	1648	1	TGFBRAP1	2	105912881	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	79222835	105912881	137286492	4	38451											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	54	0	0	0	1	0	23	54					T	209113112	C	T	209113112	3	4	464	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	103200231	209113112	34086261	5	38452											
USP37	57695	broad.mit.edu	37	chr2	219418378	219418378	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagaagctgttatcttgcaGagttaacattaggcggcttt	10	7	1	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:219418378G>A	ENST00000258399.3	-	5	638	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L|USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000338465.5_Silent_p.L76L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	76					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)		TTATCTTGCAGAGTTAACATT	0.393																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(226-228)Ctg>Ttg		ubiquitin specific peptidase 37							136	126	129					2																	219418378		2203	4300	6503	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219418378G>A	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.226C>T	2.37:g.219418378G>A						USP37_ENST00000338465.5_Silent_p.L76L|USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L	p.L76L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	5	638	-		Renal(207;0.0915)	76					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.226C>T	CCDS2418.1																																																																																				0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		4	56	0	0	0	1	0	4	56					A	219418378	G	A	219418378	2	1	464	1	0	0	0	0	0	0	0	1	17065	933	33	2		2	USP37	2	219418378	Silent	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	10305266	219418378	23780995	6	38453											
GMPPA	29926	broad.mit.edu	37	chr2	220371481	220371481	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgattgttctgccacacaaGgagctgagccgaagcttcac	10	12	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:220371481G>C	ENST00000358215.3	+	13	1593	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N|GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	408					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCACACAAGGAGCTGAGCC	0.617																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1222-1224)aaG>aaC		GDP-mannose pyrophosphorylase A							103	82	89					2																	220371481		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220371481G>C	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.1224G>C	2.37:g.220371481G>C	ENSP00000350949:p.Lys408Asn					GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N|GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N	p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	13	1593	+		Renal(207;0.0183)	408					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.1224G>C	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017171	0.75161	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.45276	0.9;0.95;0.9;0.9;0.9	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74711	-0.3573	10	0.87932	D	0	-11.5543	10.0768	0.42366	0.0958:0.0:0.9042:0.0	.	461;408	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	N	408;461;408;408;408	ENSP00000315925:K408N;ENSP00000363027:K461N;ENSP00000350949:K408N;ENSP00000363016:K408N;ENSP00000340760:K408N	ENSP00000315925:K408N	K	+	3	2	GMPPA	220079725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.934000	0.70138	1.977000	0.57605	0.467000	0.42956	AAG		0.617	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		14	27	0	0	0	1	0	14	27					C	220371481	G	C	220371481	3	2	464	1	0	0	0	0	1	0	0	0	6494	991	35	4	1270	4	GMPPA	2	220371481	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	953103	220371481	22827892	7	38454											
DOCK10	55619	broad.mit.edu	37	chr2	225740826	225740826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggactgatttgcagaatgCggttgagggtgtggatccat	15	6	0	3	rs377274433		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:225740826C>T	ENST00000258390.7	-	8	927	c.860G>A	c.(859-861)cGc>cAc	p.R287H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R281H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R287H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGCAGAATGCGGTTGAGGGT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18599	0.0		0.0	False		,,,				2504	0.0					ENST00000409592.3																			1	Substitution - Missense(1)	p.R287H(1)	endometrium(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(841-843)cGc>cAc		dedicator of cytokinesis 10		C	HIS/ARG	0,3808		0,0,1904	95	94	94		860	4.8	1	2		94	1,8271		0,1,4135	no	missense	DOCK10	NM_014689.2	29	0,1,6039	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	287/2187	225740826	1,12079	1904	4136	6040	SO:0001583	missense	55619						GTP binding	g.chr2:225740826C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.860G>A	2.37:g.225740826C>T	ENSP00000258390:p.Arg287His					DOCK10_ENST00000258390.7_Missense_Mutation_p.R287H	p.R281H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	8	955	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	287			PH.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.842G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518875	0.85495	0.0	1.21E-4	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.76060	-0.99;-0.99	5.76	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.124363	0.53938	D	0.000056	T	0.75729	0.3889	L	0.45581	1.43	0.32883	D	0.510848	D;D;D	0.63046	0.991;0.992;0.985	P;P;P	0.62298	0.9;0.895;0.9	T	0.80061	-0.1540	10	0.66056	D	0.02	.	3.7992	0.08751	0.0:0.668:0.0:0.332	.	287;287;281	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	H	281;287	ENSP00000386694:R281H;ENSP00000258390:R287H	ENSP00000258390:R287H	R	-	2	0	DOCK10	225449070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.298000	0.59067	2.721000	0.93114	0.655000	0.94253	CGC		0.488	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	37	0	0	0	1	0	3	37					T	225740826	C	T	225740826	3	4	464	1	0	0	0	0	1	0	0	0	4685	768	27	1	5896	1	DOCK10	2	225740826	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	5369345	225740826	17458547	8	38455											
OTOS	150677	broad.mit.edu	37	chr2	241078762	241078762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcatggccggcagctccGcgtaagggtctgaaagacac	15	11	1	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:241078762G>A	ENST00000391989.2	-	5	325	c.95C>T	c.(94-96)gCg>gTg	p.A32V	MYEOV2_ENST00000307266.3_5'Flank|OTOS_ENST00000319460.1_Missense_Mutation_p.A32V			Q8NHW6	OTOSP_HUMAN	otospiralin	32					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGCAGCTCCGCGTAAGGGTC	0.602																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(94-96)gCg>gTg		otospiralin							55	59	58					2																	241078762		2203	4300	6503	SO:0001583	missense	150677					extracellular region		g.chr2:241078762G>A		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.95C>T	2.37:g.241078762G>A	ENSP00000375849:p.Ala32Val					OTOS_ENST00000319460.1_Missense_Mutation_p.A32V	p.A32V			Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	5	325	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)	32					Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	c.95C>T	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960556	0.34565	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.46819	0.86;0.86	3.76	3.76	0.43208	.	0.374328	0.28760	N	0.014240	T	0.26048	0.0635	.	.	.	0.25724	N	0.985348	P	0.39022	0.655	B	0.25759	0.063	T	0.13388	-1.0511	9	0.30854	T	0.27	-11.8738	9.0133	0.36155	0.0:0.0:0.7793:0.2207	.	32	Q8NHW6	OTOSP_HUMAN	V	32	ENSP00000375849:A32V;ENSP00000322486:A32V	ENSP00000322486:A32V	A	-	2	0	OTOS	240727435	0.961000	0.32948	0.152000	0.22495	0.631000	0.37964	3.013000	0.49582	1.843000	0.53566	0.205000	0.17691	GCG		0.602	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961		41	65	0	0	0	1	0	41	65					A	241078762	G	A	241078762	3	1	464	1	0	0	0	0	1	0	0	0	11309	1087	38	1	178	1	OTOS	2	241078762	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	15337936	241078762	2120611	9	38456											
IQSEC1	9922	broad.mit.edu	37	chr3	12950911	12950911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggggacagacgaggTgagccggatgccattggggt	18	9	0	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:12950911T>G	ENST00000273221.4	-	11	2698	c.2482A>C	c.(2482-2484)Acc>Ccc	p.T828P		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	828	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGACGAGGTGAGCCGGATG	0.547																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2482-2484)Acc>Ccc		IQ motif and Sec7 domain 1							84	86	85					3																	12950911		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950911T>G	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2482A>C	3.37:g.12950911T>G	ENSP00000273221:p.Thr828Pro						p.T828P	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			11	2698	-			828			PH.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2482A>C	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.36|17.36	3.370041|3.370041	0.61624|0.61624	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.51071	.|0.72;0.72	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.|0.050347	.|0.85682	.|D	.|0.000000	T|T	0.61627|0.61627	0.2362|0.2362	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|P;D;P	.|0.61697	.|0.882;0.99;0.882	.|P;P;P	.|0.61003	.|0.683;0.882;0.571	T|T	0.64024|0.64024	-0.6504|-0.6504	4|9	.|0.51188	.|T	.|0.08	.|.	10.6929|10.6929	0.45882|0.45882	0.0:0.0:0.1601:0.8399|0.0:0.0:0.1601:0.8399	.|.	.|814;814;828	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	P|P	828|828;814;814	.|ENSP00000273221:T828P;ENSP00000402299:T814P	.|ENSP00000273221:T828P	H|T	-|-	2|1	0|0	IQSEC1|IQSEC1	12925911|12925911	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.608000|0.608000	0.37181|0.37181	5.031000|5.031000	0.64134|0.64134	1.909000|1.909000	0.55274|0.55274	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.547	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		8	82	0	0	0	1	0	8	82					G	12950911	T	G	12950911	3	3	464	1	0	0	0	0	1	0	0	0	7817	1696	59	5	970	5	IQSEC1	3	12950911	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		12950911	185071519	10	38457											
ADAMTS9	56999	broad.mit.edu	37	chr3	64640136	64640136	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcccagttcagccaggccTattagaaggaaaaaaaccaa	8	10	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:64640136T>C	ENST00000498707.1	-	8	1553		c.e8-2		ADAMTS9_ENST00000295903.4_Splice_Site|ADAMTS9_ENST00000459780.1_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCCAGGCCTATTAGAAGGA	0.403																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.e8-2		ADAM metallopeptidase with thrombospondin type 1 motif, 9							102	109	106					3																	64640136		2203	4300	6503	SO:0001630	splice_region_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64640136T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1211-2A>G	3.37:g.64640136T>C						ADAMTS9_ENST00000459780.1_Splice_Site|ADAMTS9_ENST00000295903.4_Splice_Site		NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	8	1553	-		Lung NSC(201;0.00682)						A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Splice_Site	SNP	ENST00000498707.1	37		CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458854	0.26248	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5118	0.75789	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS9	64615176	1.000000	0.71417	0.852000	0.33557	0.090000	0.18270	8.040000	0.89188	2.069000	0.61940	0.533000	0.62120	.		0.403	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		Intron	8	102	0	0	0	1	0	8	102					C	64640136	T	C	64640136	5	2	464	1	0	0	0	0	0	0	1	0	273	1536	53	3	4726	3	ADAMTS9	3	64640136	Splice_Site	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	51689225	64640136	133382294	11	38458											
MECOM	2122	broad.mit.edu	37	chr3	168833702	168833702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcacagctcctgacaccGcagtctgctcctctaaagat	6	15	3	2	rs375314275		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:168833702G>A	ENST00000464456.1	-	7	2594	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000494292.1_Missense_Mutation_p.A653V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V	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						TCCTGACACCGCAGTCTGCTC	0.388																																						ENST00000464456.1																			0				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						c.(1393-1395)gCg>gTg		MDS1 and EVI1 complex locus		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	284	257	266		1589,1394,1397,1394,1394,1958,1394	5.8	1	3		266	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	530/1117,465/1052,466/1044,465/1043,465/1052,653/1240,465/1052	168833702	1,13005	2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833702G>A	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.1394C>T	3.37:g.168833702G>A	ENSP00000419770:p.Ala465Val					MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000494292.1_Missense_Mutation_p.A653V	p.A465V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2594	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1394C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755792	0.69648	0.0	1.16E-4	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06449	3.35;3.34;3.3;3.44;3.31;3.34;3.3;3.44	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	T	0.21962	0.0529	L	0.54323	1.7	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	0.85130	0.994;0.997;0.971;0.997;0.994	T	0.00731	-1.1590	10	0.22706	T	0.39	-8.7518	20.1162	0.97934	0.0:0.0:1.0:0.0	.	653;466;653;530;465	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	530;465;465;466;653;465;465;466	ENSP00000264674:A530V;ENSP00000376493:A465V;ENSP00000419770:A465V;ENSP00000420048:A466V;ENSP00000417899:A653V;ENSP00000419995:A465V;ENSP00000420466:A465V;ENSP00000394302:A466V	ENSP00000264674:A530V	A	-	2	0	MECOM	170316396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.004000	0.88535	2.756000	0.94617	0.655000	0.94253	GCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		4	103	0	0	0	1	0	4	103					A	168833702	G	A	168833702	3	1	464	1	0	0	0	0	1	0	0	0	9422	1087	38	1	1801	1	MECOM	3	168833702	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	104193566	168833702	29188728	12	38459											
SLC7A14	57709	broad.mit.edu	37	chr3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacaaagcaccagaccGcaaaccggatccatgtgatg	8	14	0	2	rs200600060		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.A659V(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1975-1977)gCg>gTg		solute carrier family 7, member 14		G	VAL/ALA	0,4406		0,0,2203	101	107	105		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.A659V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2291	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		4	134	0	0	0	1	0	4	134					A	170198095	G	A	170198095	3	1	464	1	0	0	0	0	1	0	0	0	14696	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	1364393	170198095	27824335	13	38460											
LRRC33	375387	broad.mit.edu	37	chr3	196388024	196388024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttctgaatgggagcctcGccccactccaggatgttgcc	13	13	1	1	rs139647726		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:196388024G>A	ENST00000328557.4	+	3	1713	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	504					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGGAGCCTCGCCCCACTCCA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		17557	0.0		0.001	False		,,,				2504	0.0					ENST00000328557.4																			0											c.(1510-1512)Gcc>Acc		negative regulator of reactive oxygen species		A	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	84	82	83		1510	-6.6	0	3	dbSNP_134	83	0,8600		0,0,4300	no	missense	LRRC33	NM_198565.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	504/693	196388024	1,13005	2203	4300	6503	SO:0001583	missense	375387							g.chr3:196388024G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1510G>A	3.37:g.196388024G>A	ENSP00000328625:p.Ala504Thr						p.A504T	NM_198565.1	NP_940967.1					3	1713	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1510G>A	CCDS3319.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.008	-1.866335	0.00547	2.27E-4	0.0	ENSG00000174004	ENST00000328557	T	0.52295	0.67	5.97	-6.58	0.01836	.	1.222070	0.05601	N	0.576385	T	0.29028	0.0721	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30707	-0.9969	10	0.09843	T	0.71	.	8.578	0.33609	0.5572:0.0:0.2957:0.1471	.	504	Q86YC3	LRC33_HUMAN	T	504	ENSP00000328625:A504T	ENSP00000328625:A504T	A	+	1	0	LRRC33	197872421	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.462000	0.02364	-0.685000	0.05177	-0.726000	0.03593	GCC		0.587	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		32	51	0	0	0	1	0	32	51					A	196388024	G	A	196388024	3	1	464	1	0	0	0	0	1	0	0	0	8988	1087	38	1	1516	1	LRRC33	3	196388024	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	26189929	196388024	1634406	14	38461											
UGT2B7	7364	broad.mit.edu	37	chr4	69973922	69973922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggattccattgtttgccGatcaacctgataacattgct	9	9	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:69973922G>A	ENST00000305231.7	+	5	1238	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	398					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)	ATTGTTTGCCGATCAACCTGA	0.473																																						ENST00000305231.7																			0				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						c.(1192-1194)Gat>Aat		UDP glucuronosyltransferase 2 family, polypeptide B7							182	170	174					4																	69973922		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973922G>A	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	ENST00000305231.7:c.1192G>A	4.37:g.69973922G>A	ENSP00000304811:p.Asp398Asn					UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	p.D398N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			5	1238	+			398					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1192G>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927935	0.52759	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.80123	-0.42;-1.34	2.72	2.72	0.32119	.	0.070456	0.53938	U	0.000047	D	0.84502	0.5486	H	0.98594	4.275	0.80722	D	1	P	0.48694	0.914	B	0.34038	0.174	D	0.88924	0.3368	9	.	.	.	.	11.1821	0.48633	0.0:0.0:1.0:0.0	.	398	P16662	UD2B7_HUMAN	N	149;398	ENSP00000426206:D149N;ENSP00000304811:D398N	.	D	+	1	0	UGT2B7	70008511	1.000000	0.71417	0.559000	0.28332	0.028000	0.11728	8.551000	0.90678	1.516000	0.48900	0.491000	0.48974	GAT		0.473	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		13	145	0	0	0	1	0	13	145					A	69973922	G	A	69973922	3	1	464	1	0	0	0	0	1	0	0	0	16959	1058	37	1	1210	1	UGT2B7	4	69973922	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		69973922	121180354	15	38462											
FRAS1	80144	broad.mit.edu	37	chr4	79462267	79462267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaacaatttacaagatggaAcagaagtttaatggaggaga	10	4	0	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:79462267A>C	ENST00000264895.6	+	74	12468	c.12028A>C	c.(12028-12030)Aca>Cca	p.T4010P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	4006					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						ACAAGATGGAACAGAAGTTTA	0.353																																						ENST00000264895.6																			0				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						c.(12028-12030)Aca>Cca		Fraser syndrome 1							26	25	26					4																	79462267		1872	4101	5973	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79462267A>C	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.12028A>C	4.37:g.79462267A>C	ENSP00000264895:p.Thr4010Pro						p.T4010P	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12468	+			4005					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.12028A>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.204764|4.204764	0.79127|0.79127	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.57273	.|0.41	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.054136	.|0.64402	.|D	.|0.000001	T|T	0.69913|0.69913	0.3164|0.3164	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.72343|0.72343	-0.4322|-0.4322	5|10	.|0.72032	.|D	.|0.01	.|.	16.2087|16.2087	0.82144|0.82144	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4010	.|E9PHH6	.|.	T|P	2238|4010	.|ENSP00000264895:T4010P	.|ENSP00000264895:T4010P	N|T	+|+	2|1	0|0	FRAS1|FRAS1	79681291|79681291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	9.118000|9.118000	0.94355|0.94355	2.233000|2.233000	0.73108|0.73108	0.482000|0.482000	0.46254|0.46254	AAC|ACA		0.353	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23					C	79462267	A	C	79462267	3	2	464	1	0	0	0	0	1	0	0	0	6042	43	2	5	12397	5	FRAS1	4	79462267	Missense_Mutation	SNP	A	TCGA-TM-A7CF-01A-11D-A32B-08	9488345	79462267	111692009	16	38463											
FGA	2243	broad.mit.edu	37	chr4	155505941	155505941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcttgatattgaaaatgcCactttgggtacctgaaggat	10	6	0	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:155505941C>A	ENST00000302053.3	-	6	2014	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGAAAATGCCACTTTGGGTA	0.373																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1936-1938)Ggc>Tgc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						46	47	46					4																	155505941		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505941C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1936G>T	4.37:g.155505941C>A	ENSP00000306361:p.Gly646Cys						p.G646C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2014	-	all_hematologic(180;0.215)	Renal(120;0.0458)	646			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1936G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140787	0.77775	.	.	ENSG00000171560	ENST00000302053	D	0.99051	-5.37	5.46	5.46	0.80206	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.044035	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98238	4.18	0.80722	D	1	D	0.56287	0.975	D	0.63283	0.913	D	0.97782	1.0233	10	0.87932	D	0	.	19.3153	0.94211	0.0:1.0:0.0:0.0	.	646	P02671	FIBA_HUMAN	C	646	ENSP00000306361:G646C	ENSP00000306361:G646C	G	-	1	0	FGA	155725391	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.456000	0.80751	2.555000	0.86185	0.650000	0.86243	GGC		0.373	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		13	63	1	0	4.3838e-07	1	4.66214e-07	13	63					A	155505941	C	A	155505941	3	1	464	1	0	0	0	0	1	0	0	0	5830	594	21	4	668	4	FGA	4	155505941	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	76043674	155505941	35648335	17	38464											
FASTKD3	79072	broad.mit.edu	37	chr5	7867503	7867504	+	Frame_Shift_Del	DEL	CT	CT	-													gagttctagtgtcacacaacCtgaactgtgcagtgtaatca							TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:7867503_7867504delCT	ENST00000264669.5	-	2	829_830	c.693_694delAG	c.(691-696)tcaggtfs	p.G232fs	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCACACAACCTGAACTGTGCA	0.421																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(691-696)tcgtfs		FAST kinase domains 3																																				SO:0001589	frameshift_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867503_7867504delCT	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.693_694delAG	5.37:g.7867503_7867504delCT	ENSP00000264669:p.Gly232fs					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.SG231fs	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	829_830	-			231					Q9BVD3	Frame_Shift_Del	DEL	ENST00000264669.5	37	c.693_694delAG	CCDS3873.1																																																																																				0.421	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		10	78						10	78	---	---	---	---	-	7867504	CT	-	7867503	7	5	464	1	0	1	0	1	0	0	0	0	5687	681	24	0	1318	0	FASTKD3	5	7867503	Frame_Shift_Del	DEL	CT	TCGA-TM-A7CF-01A-11D-A32B-08		7867503	173047757	18	38465											
GPR98	84059	broad.mit.edu	37	chr5	89989828	89989828	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatctccaattcaaggggtgCctgacccactttggagaact	9	11	2	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:89989828C>G	ENST00000405460.2	+	33	7351	c.7255C>G	c.(7255-7257)Cct>Gct	p.P2419A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2419					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)		TCAAGGGGTGCCTGACCCACT	0.488																																						ENST00000405460.2																			0				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						c.(7255-7257)Cct>Gct		G protein-coupled receptor 98							81	78	79					5																	89989828		1916	4121	6037	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989828C>G	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.7255C>G	5.37:g.89989828C>G	ENSP00000384582:p.Pro2419Ala						p.P2419A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7351	+		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)	2419					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7255C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494501	0.44352	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27104	1.69	5.97	5.97	0.96955	.	0.045090	0.85682	D	0.000000	T	0.53045	0.1772	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.45702	-0.9243	10	0.54805	T	0.06	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	2419;2419	E7ETI5;Q8WXG9	.;GPR98_HUMAN	A	2419	ENSP00000384582:P2419A	ENSP00000296619:P2419A	P	+	1	0	GPR98	90025584	0.992000	0.36948	0.996000	0.52242	0.030000	0.12068	3.138000	0.50570	2.835000	0.97688	0.591000	0.81541	CCT		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	16	0	0	0	1	0	15	16					G	89989828	C	G	89989828	3	3	464	1	0	0	0	0	1	0	0	0	6721	739	26	4	7385	4	GPR98	5	89989828	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	82122325	89989828	90925432	19	38466											
PPP1R10	5514	broad.mit.edu	37	chr6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatgggggcgatgcccaCttcccatgccaccgccaggg	12	16	1	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:30570090C>T	ENST00000376511.2	-	19	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	779	Gly-rich.				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						GCGATGCCCACTTCCCATGCC	0.672																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2335-2337)aGt>aAt		protein phosphatase 1, regulatory subunit 10							160	171	167					6																	30570090		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570090C>T	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.2336G>A	6.37:g.30570090C>T	ENSP00000365694:p.Ser779Asn						p.S779N	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2888	-			779			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2336G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109160	0.20714	.	.	ENSG00000204569	ENST00000376511	T	0.56941	0.43	2.09	2.09	0.27110	.	0.273852	0.26635	N	0.023293	T	0.13756	0.0333	N	0.08118	0	0.25064	N	0.991047	B	0.20261	0.043	B	0.14023	0.01	T	0.23190	-1.0195	10	0.32370	T	0.25	-0.2633	11.9186	0.52779	0.0:1.0:0.0:0.0	.	779	Q96QC0	PP1RA_HUMAN	N	779	ENSP00000365694:S779N	ENSP00000365694:S779N	S	-	2	0	PPP1R10	30678069	0.020000	0.18652	0.981000	0.43875	0.939000	0.58152	1.434000	0.34958	1.482000	0.48325	0.491000	0.48974	AGT		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		11	216	0	0	0	1	0	11	216					T	30570090	C	T	30570090	3	4	464	1	0	0	0	0	1	0	0	0	12352	565	20	2	494	2	PPP1R10	6	30570090	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		30570090	140544977	20	38467											
TMEM14A	28978	broad.mit.edu	37	chr6	52548949	52548949	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaataatgcctgctggtttGgttgcaggtttaaggtaagt	12	4	0	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:52548949G>C	ENST00000211314.4	+	4	399	c.246G>C	c.(244-246)ttG>ttC	p.L82F		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	82						integral component of membrane (GO:0016021)				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTGCTGGTTTGGTTGCAGGTT	0.348																																						ENST00000211314.4																			0				endometrium(2)|lung(2)	4						c.(244-246)ttG>ttC		transmembrane protein 14A							152	154	153					6																	52548949		2203	4300	6503	SO:0001583	missense	28978					integral to membrane		g.chr6:52548949G>C	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.246G>C	6.37:g.52548949G>C	ENSP00000211314:p.Leu82Phe						p.L82F	NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN			4	399	+	Lung NSC(77;0.118)		82					B2R552	Missense_Mutation	SNP	ENST00000211314.4	37	c.246G>C	CCDS4943.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054581	0.36277	.	.	ENSG00000096092	ENST00000211314	T	0.53640	0.61	5.97	3.19	0.36642	.	0.208640	0.40302	N	0.001130	T	0.16769	0.0403	.	.	.	0.39284	D	0.964614	B	0.28971	0.229	B	0.26693	0.072	T	0.10337	-1.0634	9	0.56958	D	0.05	-27.9493	2.2363	0.04009	0.1792:0.2275:0.4676:0.1257	.	82	Q9Y6G1	TM14A_HUMAN	F	82	ENSP00000211314:L82F	ENSP00000211314:L82F	L	+	3	2	TMEM14A	52656908	0.981000	0.34729	1.000000	0.80357	0.821000	0.46438	-0.012000	0.12699	0.867000	0.35654	0.650000	0.86243	TTG		0.348	TMEM14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040916.1	NM_014051		17	51	0	0	0	1	0	17	51					C	52548949	G	C	52548949	3	2	464	1	0	0	0	0	1	0	0	0	16060	1339	47	4	256	4	TMEM14A	6	52548949	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	21978859	52548949	118566118	21	38468											
RNGTT	8732	broad.mit.edu	37	chr6	89638748	89638748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattaaaccgctcacacagaCgaataaaggtctcagtattc	6	11	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:89638748C>T	ENST00000369485.4	-	4	509	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	108	TPase.				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)	p.R108H(1)		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)		CTCACACAGACGAATAAAGGT	0.343																																						ENST00000369485.4																			1	Substitution - Missense(1)	p.R108H(1)	large_intestine(1)	endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(322-324)cGt>cAt		RNA guanylyltransferase and 5'-phosphatase							108	110	110					6																	89638748		2203	4300	6503	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89638748C>T	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.323G>A	6.37:g.89638748C>T	ENSP00000358497:p.Arg108His					RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H	p.R108H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	4	509	-		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)	108			TPase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.323G>A	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386717	0.61956	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.82	5.82	0.92795	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.043067	0.85682	D	0.000000	T	0.69993	0.3173	N	0.20986	0.625	0.80722	D	1	B;B;B;B	0.21381	0.044;0.055;0.044;0.055	B;B;B;B	0.16289	0.007;0.015;0.008;0.015	T	0.64879	-0.6303	10	0.33141	T	0.24	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	48;108;108;108	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	H	108;108;48;79;108	ENSP00000358497:R108H;ENSP00000265607:R108H;ENSP00000442609:R48H;ENSP00000358487:R108H	ENSP00000265607:R108H	R	-	2	0	RNGTT	89695467	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.415000	0.59809	2.762000	0.94881	0.561000	0.74099	CGT		0.343	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			7	63	0	0	0	1	0	7	63					T	89638748	C	T	89638748	3	4	464	1	0	0	0	0	1	0	0	0	13503	536	19	1	1522	1	RNGTT	6	89638748	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	37089799	89638748	81476319	22	38469											
ALDH1B1	219	broad.mit.edu	37	chr9	38396184	38396184	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgaggtcatcaaggtgtatCggtactttgctggctgggct	14	7	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:38396184C>A	ENST00000377698.3	+	2	592	c.439C>A	c.(439-441)Cgg>Agg	p.R147R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CAAGGTGTATCGGTACTTTGC	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(439-441)Cgg>Agg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						116	117	117					9																	38396184		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396184C>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.439C>A	9.37:g.38396184C>A							p.R147R	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	592	+			147					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.439C>A	CCDS6615.1																																																																																				0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			4	126	1	0	0.150653	1	0.150653	4	126					A	38396184	C	A	38396184	2	1	464	1	0	0	0	0	0	0	0	1	493	875	31	4		4	ALDH1B1	9	38396184	Silent	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		38396184	102817247	23	38470											
NOTCH1	4851	broad.mit.edu	37	chr9	139404380	139404380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaaggccgtgttgatgCcgtctgtgcaggagcccccg	15	13	1	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:139404380C>T	ENST00000277541.6	-	18	2849	c.2774G>A	c.(2773-2775)gGc>gAc	p.G925D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	925	EGF-like 24. {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)		CGTGTTGATGCCGTCTGTGCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(2773-2775)gGc>gAc		notch 1							62	74	70					9																	139404380		2044	4171	6215	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404380C>T	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.2774G>A	9.37:g.139404380C>T	ENSP00000277541:p.Gly925Asp	HNSCC(8;0.001)					p.G925D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2849	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	925			EGF-like 24.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2774G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994298	0.54041	.	.	ENSG00000148400	ENST00000277541	D	0.87412	-2.25	4.88	4.88	0.63580	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.174319	0.50627	D	0.000112	D	0.90473	0.7016	M	0.69248	2.105	0.58432	D	0.999995	P	0.49559	0.925	P	0.59012	0.85	D	0.87687	0.2551	10	0.11485	T	0.65	.	16.5962	0.84797	0.0:1.0:0.0:0.0	.	925	P46531	NOTC1_HUMAN	D	925	ENSP00000277541:G925D	ENSP00000277541:G925D	G	-	2	0	NOTCH1	138524201	0.814000	0.29104	0.044000	0.18714	0.295000	0.27426	3.642000	0.54367	2.235000	0.73313	0.655000	0.94253	GGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	93	0	0	0	1	0	4	93					T	139404380	C	T	139404380	3	4	464	1	0	0	0	0	1	0	0	0	10547	739	26	2	4961	2	NOTCH1	9	139404380	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	101008196	139404380	1809051	24	38471											
KIAA0913	23053	broad.mit.edu	37	chr10	75549206	75549206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggctgtgatgtttgaccGctgccgggtcacttcctgca	13	12	1	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr10:75549206G>A	ENST00000605216.1	+	4	756	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R180H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	180							zinc ion binding (GO:0008270)										ATGTTTGACCGCTGCCGGGTC	0.612																																						ENST00000604729.1																			0											c.(538-540)cGc>cAc		zinc finger, SWIM-type containing 8							49	60	56					10																	75549206		2182	4265	6447	SO:0001583	missense	23053							g.chr10:75549206G>A	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.539G>A	10.37:g.75549206G>A	ENSP00000474748:p.Arg180His					ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R180H|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R180H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R180H	p.R180H							4	836	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.539G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.829264|4.829264	0.90955|0.90955	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000446546|ENST00000398706	.|T	.|0.53206	.|0.63	5.23|5.23	5.23|5.23	0.72850|0.72850	.|Zinc finger, SWIM-type (1);	.|.	.|.	.|.	.|.	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.78314	.|0.991;0.991;0.991	T|T	0.79764|0.79764	-0.1666|-0.1666	5|9	.|0.87932	.|D	.|0	.|.	19.0053|19.0053	0.92848|0.92848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|180;180;180	.|A7E2V4;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.	T|H	265|180	.|ENSP00000381693:R180H	.|ENSP00000381693:R180H	A|R	+|+	1|2	0|0	KIAA0913|KIAA0913	75219212|75219212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	9.592000|9.592000	0.98245|0.98245	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.612	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		6	9	0	0	0	1	0	6	9					A	75549206	G	A	75549206	3	1	464	1	0	0	0	0	1	0	0	0	8200	1087	38	1	553	1	KIAA0913	10	75549206	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		75549206	59985541	25	38472											
OR52E4	390081	broad.mit.edu	37	chr11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttgtgtttctcattctgCgtctgccattctgtgggcat	9	10	4	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453																																						ENST00000316987.2																			1	Substitution - Missense(1)	p.R167G(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(499-501)Cgt>Tgt		olfactory receptor, family 52, subfamily E, member 4							154	140	145					11																	5906021		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906021C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.499C>T	11.37:g.5906021C>T	ENSP00000321426:p.Arg167Cys						p.R167C	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	521	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	167					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.499C>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661888	0.47572	.	.	ENSG00000180974	ENST00000316987	T	0.00188	8.59	5.15	0.874	0.19124	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000210	T	0.00468	0.0015	M	0.86953	2.85	0.09310	N	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.44817	-0.9303	10	0.87932	D	0	.	5.7145	0.17952	0.4898:0.3415:0.0:0.1687	.	167	Q8NGH9	O52E4_HUMAN	C	167	ENSP00000321426:R167C	ENSP00000321426:R167C	R	+	1	0	OR52E4	5862597	0.000000	0.05858	0.016000	0.15963	0.913000	0.54294	-0.034000	0.12225	-0.017000	0.14103	0.643000	0.83706	CGT		0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		47	85	0	0	0	1	0	47	85					T	5906021	C	T	5906021	3	4	464	1	0	0	0	0	1	0	0	0	11116	768	27	1	501	1	OR52E4	11	5906021	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		5906021	129100495	26	38473											
PKNOX2	63876	broad.mit.edu	37	chr11	125299879	125299879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcaatgcccggaggcGcatcctgcagcccatgcttg	11	14	2	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:125299879G>A	ENST00000298282.9	+	12	1305	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	345					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GCCCGGAGGCGCATCCTGCAG	0.597																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1033-1035)cGc>cAc		PBX/knotted 1 homeobox 2							111	121	117					11																	125299879		2047	4197	6244	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299879G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1034G>A	11.37:g.125299879G>A	ENSP00000298282:p.Arg345His					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H	p.R345H	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1305	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	345					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1034G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362586	0.95877	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.11	5.11	0.69529	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.049509	0.85682	D	0.000000	D	0.99569	0.9845	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.992	D;D;P	0.91635	0.999;0.91;0.735	D	0.97642	1.0149	10	0.87932	D	0	-12.3654	18.9051	0.92456	0.0:0.0:1.0:0.0	.	281;316;345	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	H	316;316;345;281	ENSP00000434732:R316H;ENSP00000433971:R316H;ENSP00000298282:R345H;ENSP00000441470:R281H	ENSP00000298282:R345H	R	+	2	0	PKNOX2	124805089	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.809000	0.99208	2.543000	0.85770	0.655000	0.94253	CGC		0.597	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			4	172	0	0	0	1	0	4	172					A	125299879	G	A	125299879	3	1	464	1	0	0	0	0	1	0	0	0	11983	1087	38	1	1068	1	PKNOX2	11	125299879	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	119393858	125299879	9706637	27	38474											
LPCAT3	10162	broad.mit.edu	37	chr12	7086824	7086824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtatcctgagtgcaggCcgtgccagagggccaggaat	15	11	0	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:7086824C>T	ENST00000261407.4	-	10	1209	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	375					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGAGTGCAGGCCGTGCCAGAG	0.507																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1123-1125)gGc>gAc		lysophosphatidylcholine acyltransferase 3							106	113	110					12																	7086824		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086824C>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1124G>A	12.37:g.7086824C>T	ENSP00000261407:p.Gly375Asp					LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA	p.G375D	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			10	1209	-			375					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1124G>A	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942338	0.92526	.	.	ENSG00000111684	ENST00000261407	D	0.82433	-1.61	5.29	5.29	0.74685	.	0.048479	0.85682	D	0.000000	D	0.93245	0.7848	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94524	0.7730	10	0.87932	D	0	-20.2163	18.958	0.92668	0.0:1.0:0.0:0.0	.	375	Q6P1A2	MBOA5_HUMAN	D	375	ENSP00000261407:G375D	ENSP00000261407:G375D	G	-	2	0	LPCAT3	6957085	1.000000	0.71417	0.797000	0.32132	0.957000	0.61999	7.487000	0.81328	2.478000	0.83669	0.561000	0.74099	GGC		0.507	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		8	153	0	0	0	1	0	8	153					T	7086824	C	T	7086824	3	4	464	1	0	0	0	0	1	0	0	0	8912	739	26	2	351	2	LPCAT3	12	7086824	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		7086824	126765071	28	38475											
CLEC6A	93978	broad.mit.edu	37	chr12	8612205	8612205	+	Missense_Mutation	SNP	T	T	G													ctttacagtaacttaccattTtacatatggtgaaactggca							TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612205T>G	ENST00000382073.3	+	3	320	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	45					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACTTACCATTTTACATATGGT	0.393																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(133-135)tTt>tGt		C-type lectin domain family 6, member A							163	162	162					12																	8612205		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8612205T>G	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"C-type lectin domain containing"	14556	protein-coding gene	gene with protein product		613579	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.134T>G	12.37:g.8612205T>G	ENSP00000371505:p.Phe45Cys						p.F45C	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			3	320	+	Lung SC(5;0.184)		45					A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.134T>G	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.780421	0.31502	.	.	ENSG00000205846	ENST00000382073	T	0.17854	2.25	3.38	2.24	0.28232	.	.	.	.	.	T	0.20129	0.0484	L	0.60455	1.87	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.13150	-1.0520	9	0.72032	D	0.01	.	5.196	0.15239	0.0:0.1343:0.0:0.8657	.	45	Q6EIG7	CLC6A_HUMAN	C	45	ENSP00000371505:F45C	ENSP00000371505:F45C	F	+	2	0	CLEC6A	8503472	0.042000	0.20092	0.003000	0.11579	0.035000	0.12851	2.174000	0.42482	0.679000	0.31345	0.528000	0.53228	TTT		0.393	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		13	135	0	0	0	1	0	13	135					G	8612205	T	G	8612205	3	3	464	1	0	0	0	0	1	0	0	0	3520	1841	64	5	144	5	CLEC6A	12	8612205	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	1525381	8612205	125239690	29	38476	160	2									
CLEC6A	93978	broad.mit.edu	37	chr12	8612215	8612215	+	Silent	SNP	T	T	G													acttaccattttacatatggTgaaactggcaaaaggctgtc							TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612215T>G	ENST00000382073.3	+	3	330	c.144T>G	c.(142-144)ggT>ggG	p.G48G		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	48					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTACATATGGTGAAACTGGCA	0.378																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(142-144)ggT>ggG		C-type lectin domain family 6, member A							164	164	164					12																	8612215		2203	4300	6503	SO:0001819	synonymous_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8612215T>G	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"C-type lectin domain containing"	14556	protein-coding gene	gene with protein product		613579	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.144T>G	12.37:g.8612215T>G							p.G48G	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			3	330	+	Lung SC(5;0.184)		48					A2RUK3	Silent	SNP	ENST00000382073.3	37	c.144T>G	CCDS31739.1																																																																																				0.378	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		13	134	0	0	0	1	0	13	134					G	8612215	T	G	8612215	2	3	464	1	0	0	0	0	0	0	0	1	3520	1683	59	5		5	CLEC6A	12	8612215	Silent	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	10	8612215	125239680	30	38477	160	2									
KRT81	3887	broad.mit.edu	37	chr12	52685222	52685222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagatgcagctgaaggcgcGcccaccaaatcctgatccgc	11	15	0	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:52685222G>A	ENST00000327741.5	-	1	96	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	10	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGGCGCGCCCACCAAAT	0.657																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(28-30)Cgc>Tgc		keratin 81							26	30	28					12																	52685222		2179	4231	6410	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685222G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.28C>T	12.37:g.52685222G>A	ENSP00000369349:p.Arg10Cys					KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.R10C	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	96	-			10			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.28C>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715976	0.48622	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.83837	-1.77	5.17	4.28	0.50868	.	1.300300	0.06539	U	0.742939	D	0.88351	0.6413	M	0.87758	2.905	0.41694	D	0.989365	D	0.58970	0.984	P	0.48704	0.587	T	0.82794	-0.0281	10	0.87932	D	0	.	8.8261	0.35057	0.0:0.1526:0.6664:0.1811	.	10	Q14533	KRT81_HUMAN	C	10	ENSP00000369349:R10C	ENSP00000369349:R10C	R	-	1	0	KRT81	50971489	0.994000	0.37717	0.954000	0.39281	0.329000	0.28539	3.284000	0.51708	1.156000	0.42514	0.549000	0.68633	CGC		0.657	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		5	18	0	0	0	1	0	5	18					A	52685222	G	A	52685222	3	1	464	1	0	0	0	0	1	0	0	0	8495	1087	38	1	1525	1	KRT81	12	52685222	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	44073007	52685222	81166673	31	38478											
MYO1H	283446	broad.mit.edu	37	chr12	109831174	109831174	+	Frame_Shift_Del	DEL	C	C	-													cttgtgtctgtgaatccataCcaggagctcggaatctacac							TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:109831174delC	ENST00000431443.2	+	2	165	c.165delC	c.(163-165)tacfs	p.Y55fs	MYO1H_ENST00000310903.5_Frame_Shift_Del_p.Y55fs	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	55	Myosin motor.					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						TGAATCCATACCAGGAGCTCG	0.453																																						ENST00000310903.5																			0				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						c.(163-165)tafs		myosin IH							101	97	98					12																	109831174		1909	4126	6035	SO:0001589	frameshift_variant	283446					myosin complex	motor activity	g.chr12:109831174delC		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.165delC	12.37:g.109831174delC	ENSP00000444076:p.Tyr55fs					MYO1H_ENST00000431443.2_Frame_Shift_Del_p.Y55fs	p.Y55fs			B4DNW6	B4DNW6_HUMAN			3	271	+			181					F5H3C6	Frame_Shift_Del	DEL	ENST00000431443.2	37	c.165delC																																																																																					0.453	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		2	4						2	4	---	---	---	---	-	109831174	C	-	109831174	7	5	464	1	0	1	0	1	0	0	0	0	10075	518	18	0	171	0	MYO1H	12	109831174	Frame_Shift_Del	DEL	C	TCGA-TM-A7CF-01A-11D-A32B-08	57145952	109831174	24020721	32	38479											
RNF17	56163	broad.mit.edu	37	chr13	25399793	25399793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttctattaaagacaAtcgaggaattctataaaagt	5	4	2	1	rs368259164		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:25399793A>G	ENST00000255324.5	+	16	2180	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	710					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)		ATTAAAGACAATCGAGGAATT	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		16546	0.0		0.0	False		,,,				2504	0.001					ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2128-2130)Atc>Gtc		ring finger protein 17		A	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	68	73	71		2128,2128	3.5	0.8	13		71	0,8600		0,0,4300	no	missense,missense	RNF17	NM_001184993.1,NM_031277.2	29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	710/1620,710/1624	25399793	1,13005	2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399793A>G	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.2128A>G	13.37:g.25399793A>G	ENSP00000255324:p.Ile710Val					RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2180	+		Lung SC(185;0.0225)|Breast(139;0.077)	710					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2128A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	3.973	-0.007919	0.07773	2.27E-4	0.0	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.13420	2.59;2.59;2.59	4.69	3.51	0.40186	Maternal tudor protein (1);	0.394595	0.25944	N	0.027298	T	0.12732	0.0309	L	0.60455	1.87	0.80722	D	1	B;B	0.19200	0.012;0.034	B;B	0.16289	0.011;0.015	T	0.07635	-1.0762	10	0.42905	T	0.14	.	5.055	0.14527	0.7188:0.1838:0.0973:0.0	.	710;710	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	V	710;710;569;34	ENSP00000255324:I710V;ENSP00000371346:I710V;ENSP00000388892:I34V	ENSP00000255324:I710V	I	+	1	0	RNF17	24297793	1.000000	0.71417	0.756000	0.31282	0.064000	0.16182	1.560000	0.36331	0.757000	0.33036	0.402000	0.26972	ATC		0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		21	49	0	0	0	1	0	21	49					G	25399793	A	G	25399793	3	3	464	1	0	0	0	0	1	0	0	0	13461	101	4	3	2190	3	RNF17	13	25399793	Missense_Mutation	SNP	A	TCGA-TM-A7CF-01A-11D-A32B-08		25399793	89770085	33	38480											
SMAD9	4093	broad.mit.edu	37	chr13	37439796	37439796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccatctatgagcacacttCgggaggaagcctggaatgtc	11	11	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:37439796C>T	ENST00000399275.2	-	4	1020	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q|SMAD9_ENST00000379826.4_Missense_Mutation_p.R294Q			O15198	SMAD9_HUMAN	SMAD family member 9	294	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCACACTTCGGGAGGAAGC	0.473																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(880-882)cGa>cAa		SMAD family member 9							94	93	93					13																	37439796		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37439796C>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.881G>A	13.37:g.37439796C>T	ENSP00000382216:p.Arg294Gln					SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q|SMAD9_ENST00000399275.2_Missense_Mutation_p.R294Q	p.R294Q	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	5	1223	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	294			MH2.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.881G>A	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053403	0.55218	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.97232	-4.19;-4.3;-4.19	5.23	3.48	0.39840	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.055122	0.85682	D	0.000000	D	0.90841	0.7123	N	0.05280	-0.08	0.52501	D	0.999959	B;B	0.19583	0.003;0.037	B;B	0.20184	0.007;0.028	D	0.85624	0.1266	10	0.54805	T	0.06	.	10.2751	0.43506	0.0:0.7898:0.136:0.0742	.	257;294	O15198-2;O15198	.;SMAD9_HUMAN	Q	294;257;294	ENSP00000382216:R294Q;ENSP00000239885:R257Q;ENSP00000369154:R294Q	ENSP00000239885:R257Q	R	-	2	0	SMAD9	36337796	0.976000	0.34144	0.684000	0.30055	0.969000	0.65631	3.207000	0.51106	0.699000	0.31761	0.655000	0.94253	CGA		0.473	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		8	70	0	0	0	1	0	8	70					T	37439796	C	T	37439796	3	4	464	1	0	0	0	0	1	0	0	0	14764	884	31	1	534	1	SMAD9	13	37439796	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	12040003	37439796	77730082	34	38481											
AKAP13	11214	broad.mit.edu	37	chr15	86287010	86287010	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaacaaagccaaaggaaaaGaaggagaaaaaaaagaagaa	9	3	0	4			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:86287010G>A	ENST00000394518.2	+	36	8441	c.8346G>A	c.(8344-8346)aaG>aaA	p.K2782K	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Silent_p.K2786K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.K1027K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2782	Interaction with ESR1.|Poly-Lys.				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						CAAAGGAAAAGAAGGAGAAAA	0.542																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(8344-8346)aaG>aaA		A kinase (PRKA) anchor protein 13							41	46	44					15																	86287010		2199	4296	6495	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287010G>A	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.8346G>A	15.37:g.86287010G>A						AKAP13_ENST00000394510.2_Silent_p.K1027K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2786K	p.K2782K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8441	+			2782			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.8346G>A	CCDS32319.1																																																																																				0.542	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	61	0	0	0	1	0	6	61					A	86287010	G	A	86287010	2	1	464	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86287010	Silent	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		86287010	16244382	35	38482											
COQ9	57017	broad.mit.edu	37	chr16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagcccttgagtttgtgCccgcccacgggtggacagca	14	14	0	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																						ENST00000262507.6																			2	Substitution - Missense(2)	p.P112S(2)	lung(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(334-336)Ccc>Tcc		coenzyme Q9							107	93	98					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"chromosome 16 open reading frame 49", "coenzyme Q9 homolog (yeast)", "coenzyme Q9 homolog (S. cerevisiae)"	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	403	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		4	111	0	0	0	1	0	4	111					T	57486804	C	T	57486804	3	4	464	1	0	0	0	0	1	0	0	0	3751	739	26	2	344	2	COQ9	16	57486804	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		57486804	32867949	36	38483											
COTL1	23406	broad.mit.edu	37	chr16	84623755	84623755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccgtcccggttttggCgcgctgcagcccgctgacgt	13	15	0	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:84623755C>T	ENST00000262428.4	-	3	436	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	92	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)	p.A92T(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CCGGTTTTGGCGCGCTGCAGC	0.597																																						ENST00000262428.4																			1	Substitution - Missense(1)	p.A92T(1)	lung(1)	endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(274-276)Gcc>Acc		coactosin-like 1 (Dictyostelium)							101	76	84					16																	84623755		2199	4300	6499	SO:0001583	missense	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84623755C>T	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.274G>A	16.37:g.84623755C>T	ENSP00000262428:p.Ala92Thr					COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	p.A92T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			3	436	-			92			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Missense_Mutation	SNP	ENST00000262428.4	37	c.274G>A	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	C	36	5.711196	0.96821	.	.	ENSG00000103187	ENST00000262428	T	0.37752	1.18	5.34	5.34	0.76211	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64935	-0.6290	10	0.87932	D	0	.	18.0463	0.89334	0.0:1.0:0.0:0.0	.	92	Q14019	COTL1_HUMAN	T	92	ENSP00000262428:A92T	ENSP00000262428:A92T	A	-	1	0	COTL1	83181256	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.300000	0.78841	2.494000	0.84150	0.561000	0.74099	GCC		0.597	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		4	60	0	0	0	1	0	4	60					T	84623755	C	T	84623755	3	4	464	1	0	0	0	0	1	0	0	0	3761	768	27	1	162	1	COTL1	16	84623755	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	27136951	84623755	5730998	37	38484											
ITGAE	3682	broad.mit.edu	37	chr17	3661079	3661079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggggtcctcgaatatgCcaccatcggtgagcaccacc	12	13	0	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:3661079C>T	ENST00000263087.4	-	9	1039	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	314	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		CTCGAATATGCCACCATCGGT	0.547																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				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						c.(940-942)gGc>gAc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							232	213	220					17																	3661079		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661079C>T	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.941G>A	17.37:g.3661079C>T	ENSP00000263087:p.Gly314Asp						p.G314D	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1039	-			314			VWFA.		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.941G>A	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	2.997	-0.206984	0.06180	.	.	ENSG00000083457	ENST00000263087	D	0.82711	-1.64	5.56	4.49	0.54785	von Willebrand factor, type A (3);	.	.	.	.	T	0.47728	0.1461	N	0.00101	-2.135	0.27436	N	0.953858	B	0.06786	0.001	B	0.04013	0.001	T	0.45600	-0.9250	9	0.15499	T	0.54	.	9.5862	0.39517	0.0:0.0843:0.0:0.9157	.	314	P38570	ITAE_HUMAN	D	314	ENSP00000263087:G314D	ENSP00000263087:G314D	G	-	2	0	ITGAE	3607828	1.000000	0.71417	0.991000	0.47740	0.728000	0.41692	3.752000	0.55172	1.065000	0.40693	-0.492000	0.04666	GGC		0.547	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		5	286	0	0	0	1	0	5	286					T	3661079	C	T	3661079	3	4	464	1	0	0	0	0	1	0	0	0	7885	739	26	2	2690	2	ITGAE	17	3661079	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		3661079	77534131	38	38485											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	20	0	0	0	1	0	16	20					A	7577121	G	A	7577121	3	1	464	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	3916042	7577121	73618089	39	38486											
TP53	7157	broad.mit.edu	37	chr17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatagggcaccaccacacTatgtcgaaaagtgtttctgt	8	11	2	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7578206T>C	ENST00000269305.4	-	6	832	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000420246.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G	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	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)	ACCACCACACTATGTCGAAAA	0.537		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(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						c.(643-645)Agt>Ggt	Other conserved DNA damage response genes	tumor protein p53							125	112	116					17																	7578206		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578206T>C	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.643A>G	17.37:g.7578206T>C	ENSP00000269305:p.Ser215Gly	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)				TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G	p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	215		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.643A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	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	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	36	0	0	0	1	0	18	36					C	7578206	T	C	7578206	3	2	464	1	0	0	0	0	1	0	0	0	16378	1522	53	3	651	3	TP53	17	7578206	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	1085	7578206	73617004	40	38487											
NEUROD2	4761	broad.mit.edu	37	chr17	37762632	37762632	+	Frame_Shift_Del	DEL	T	T	-													cccccagctcgccttcctccTtgacctcggccaacgtggcc							TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:37762632delT	ENST00000302584.4	-	2	441	c.221delA	c.(220-222)aagfs	p.K74fs		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	74					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	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)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			gccttcctcctTGACCTCGGC	0.726																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(220-222)agfs		neuronal differentiation 2							19	16	17					17																	37762632		2193	4290	6483	SO:0001589	frameshift_variant	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762632delT	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"Basic helix-loop-helix proteins"	7763	protein-coding gene	gene with protein product		601725	"neurogenic differentiation 2"			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.221delA	17.37:g.37762632delT	ENSP00000306754:p.Lys74fs						p.K74fs	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	441	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		74					Q8TBI7|Q9UQC6	Frame_Shift_Del	DEL	ENST00000302584.4	37	c.221delA	CCDS11338.1																																																																																				0.726	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		2	4						2	4	---	---	---	---	-	37762632	T	-	37762632	7	5	464	1	0	1	0	1	0	0	0	0	10349	1609	56	0	931	0	NEUROD2	17	37762632	Frame_Shift_Del	DEL	T	TCGA-TM-A7CF-01A-11D-A32B-08	30184426	37762632	43432578	41	38488											
ZFP161	7541	broad.mit.edu	37	chr18	5291231	5291231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcttatatcctgtgtggaTttttaggtgttctttcaggt	12	5	2	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:5291231T>G	ENST00000357006.4	-	4	1314	c.976A>C	c.(976-978)Atc>Ctc	p.I326L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|transcription regulatory region DNA binding (GO:0044212)										CCTGTGTGGATTTTTAGGTGT	0.453																																						ENST00000357006.4																			0											c.(976-978)Atc>Ctc		zinc finger and BTB domain containing 14							148	145	146					18																	5291231		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291231T>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.976A>C	18.37:g.5291231T>G	ENSP00000349503:p.Ile326Leu					ZBTB14_ENST00000400143.3_Missense_Mutation_p.I326L	p.I326L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1314	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.976A>C	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531417	0.45073	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07327	3.2;3.2	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.06050	0.0157	N	0.10809	0.05	0.80722	D	1	B	0.32467	0.372	B	0.29176	0.099	T	0.41980	-0.9478	10	0.59425	D	0.04	-13.482	16.143	0.81539	0.0:0.0:0.0:1.0	.	326	O43829	ZF161_HUMAN	L	326	ENSP00000349503:I326L;ENSP00000383009:I326L	ENSP00000349503:I326L	I	-	1	0	ZFP161	5281231	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.233000	0.72320	2.206000	0.71126	0.528000	0.53228	ATC		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		27	55	0	0	0	1	0	27	55					G	5291231	T	G	5291231	3	3	464	1	0	0	0	0	1	0	0	0	17637	1493	52	5	377	5	ZFP161	18	5291231	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		5291231	72786017	42	38489											
NOL4	8715	broad.mit.edu	37	chr18	31709985	31709985	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctacccctacgccatcCtggaaacaaaacaacaacaa	3	15	2	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:31709985C>T	ENST00000261592.5	-	2	562		c.e2-1		NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTACGCCATCCTGGAAACAAA	0.343																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e2-1		nucleolar protein 4							50	47	48					18																	31709985		2202	4299	6501	SO:0001630	splice_region_variant	8715					nucleolus	RNA binding	g.chr18:31709985C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.265-1G>A	18.37:g.31709985C>T						NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site		NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			2	562	-								B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Splice_Site	SNP	ENST00000261592.5	37		CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419912	0.83559	.	.	ENSG00000101746	ENST00000261592;ENST00000538587	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.866	0.92292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOL4	29963983	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.772000	0.75001	2.710000	0.92621	0.585000	0.79938	.		0.343	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	Intron	4	39	0	0	0	1	0	4	39					T	31709985	C	T	31709985	5	4	464	1	0	0	0	0	0	0	1	0	10524	695	24	2	1692	2	NOL4	18	31709985	Splice_Site	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	26418754	31709985	46367263	43	38490											
C20orf135	140701	broad.mit.edu	37	chr20	62493651	62493651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgttggcggcttcacggCcacctgggccaccatgacct	12	15	2	1	rs369503558		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr20:62493651C>T	ENST00000369916.3	+	1	1086	c.758C>T	c.(757-759)gCc>gTc	p.A253V	TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000217121.5_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	253							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						GGCTTCACGGCCACCTGGGCC	0.672																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(757-759)gCc>gTc		abhydrolase domain containing 16B							37	28	31					20																	62493651		2201	4298	6499	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493651C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.758C>T	20.37:g.62493651C>T	ENSP00000358932:p.Ala253Val						p.A253V	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1086	+			253						Missense_Mutation	SNP	ENST00000369916.3	37	c.758C>T	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371139	0.82573	.	.	ENSG00000183260	ENST00000369916	T	0.62105	0.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.73753	2.245	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.81300	-0.0995	10	0.66056	D	0.02	-13.5425	15.8993	0.79359	0.0:1.0:0.0:0.0	.	253	Q9H3Z7	ABHGB_HUMAN	V	253	ENSP00000358932:A253V	ENSP00000358932:A253V	A	+	2	0	ABHD16B	61964095	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	4.938000	0.63519	2.353000	0.79882	0.491000	0.48974	GCC		0.672	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			6	13	0	0	0	1	0	6	13					T	62493651	C	T	62493651	3	4	464	1	0	0	0	0	1	0	0	0	2088	739	26	2	760	2	C20orf135	20	62493651	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		62493651	531869	44	38491											
HIRA	7290	broad.mit.edu	37	chr22	19381985	19381985	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagacaccaggtaatgCccatcaggtgaccagctgag	13	11	1	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr22:19381985C>A	ENST00000263208.5	-	8	958	c.702G>T	c.(700-702)ggG>ggT	p.G234G	HIRA_ENST00000546308.1_Silent_p.G190G|HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000541063.1_Silent_p.G190G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	234					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGGTAATGCCCATCAGGTG	0.547																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(700-702)ggG>ggT		histone cell cycle regulator							148	106	120					22																	19381985		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19381985C>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.702G>T	22.37:g.19381985C>A						HIRA_ENST00000541063.1_Silent_p.G190G|HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000546308.1_Silent_p.G190G	p.G234G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			8	958	-	Colorectal(54;0.0993)		234					Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.702G>T	CCDS13759.1																																																																																				0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	59	1	0	0.0381472	1	0.039321	7	59					A	19381985	C	A	19381985	2	1	464	1	0	0	0	0	0	0	0	1	7120	726	26	4		4	HIRA	22	19381985	Silent	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		19381985	31922581	45	38492											
ATP7A	538	broad.mit.edu	37	chrX	77301960	77301960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagcagagcctctataaacTcactactgtctgataaacgc	6	11	3	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:77301960T>C	ENST00000341514.6	+	23	4551	c.4396T>C	c.(4396-4398)Tca>Cca	p.S1466P	ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1466					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)	CTCTATAAACTCACTACTGTC	0.443																																						ENST00000341514.6																			0				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						c.(4396-4398)Tca>Cca		ATPase, Cu++ transporting, alpha polypeptide							190	189	190					X																	77301960		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301960T>C	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.4396T>C	X.37:g.77301960T>C	ENSP00000345728:p.Ser1466Pro					ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P	p.S1466P	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			23	4551	+			1466					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4396T>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690545	0.68271	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.76060	-0.99;-0.99;-0.99	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	L	0.43152	1.355	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.81422	-0.0940	10	0.49607	T	0.09	-7.8071	13.8073	0.63240	0.0:0.0:0.0:1.0	.	1466	Q04656	ATP7A_HUMAN	P	1388;469;1466	ENSP00000343026:S1388P;ENSP00000343678:S469P;ENSP00000345728:S1466P	ENSP00000345728:S1466P	S	+	1	0	ATP7A	77188616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.827000	0.69300	1.634000	0.50500	0.356000	0.21956	TCA		0.443	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		23	271	0	0	0	1	0	23	271					C	77301960	T	C	77301960	3	2	464	1	0	0	0	0	1	0	0	0	1190	1551	54	3	4482	3	ATP7A	23	77301960	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		77301960	77968600	46	38493											
ARMCX2	9823	broad.mit.edu	37	chrX	100911610	100911612	+	In_Frame_Del	DEL	GCA	GCA	-													gtccgccattagcagaggctGcagcagctgctgcagcccca							TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:100911610_100911612delGCA	ENST00000328766.5	-	5	1416_1418	c.963_965delTGC	c.(961-966)gctgca>gca	p.321_322AA>A	ARMCX2_ENST00000330154.2_In_Frame_Del_p.321_322AA>A|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_In_Frame_Del_p.321_322AA>A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	321						integral component of membrane (GO:0016021)		p.G316fs*3(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCAGAGGCTGCAGCAGCTGCTG	0.586																																						ENST00000328766.5																			1	Deletion - Frameshift(1)	p.G316fs*3(1)	ovary(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(961-966)gca>gc		armadillo repeat containing, X-linked 2																																				SO:0001651	inframe_deletion	9823					integral to membrane	binding	g.chrX:100911610_100911612delGCA	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.963_965delTGC	X.37:g.100911613_100911615delGCA	ENSP00000331662:p.Ala323del					ARMCX2_ENST00000330154.2_In_Frame_Del_p.AA321del|ARMCX2_ENST00000356824.4_In_Frame_Del_p.AA321del	p.AA321del	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1416_1418	-			321					O60267|Q5H9D9	In_Frame_Del	DEL	ENST00000328766.5	37	c.963_965delTGC	CCDS14490.1																																																																																				0.586	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		10	135						10	135	---	---	---	---	-	100911612	GCA	-	100911610	7	5	464	1	0	1	0	1	0	0	0	0	960	1319	46	0	937	0	ARMCX2	23	100911610	In_Frame_Del	DEL	GCA	TCGA-TM-A7CF-01A-11D-A32B-08	23609650	100911610	54358950	47	38494											
RAP2C	57826	broad.mit.edu	37	chrX	131351120	131351120	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaaactgctcagttccTgcggtgtccagaatttccag	11	11	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:131351120T>C	ENST00000342983.2	-	2	923	c.177A>G	c.(175-177)gcA>gcG	p.A59A	RAP2C_ENST00000370874.1_Silent_p.A59A|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	59					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)					GCTCAGTTCCTGCGGTGTCCA	0.458																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(175-177)gcA>gcG		RAP2C, member of RAS oncogene family							113	108	110					X																	131351120		2203	4300	6503	SO:0001819	synonymous_variant	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351120T>C	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.177A>G	X.37:g.131351120T>C						RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Silent_p.A59A	p.A59A	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	923	-	Acute lymphoblastic leukemia(192;0.000127)		59					B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	ENST00000342983.2	37	c.177A>G	CCDS14632.1																																																																																				0.458	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		6	136	0	0	0	1	0	6	136					C	131351120	T	C	131351120	2	2	464	1	0	0	0	0	0	0	0	1	13042	1567	55	3		3	RAP2C	23	131351120	Silent	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	30439510	131351120	23919440	48	38495											
FLNA	2316	broad.mit.edu	37	chrX	153585626	153585626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagcagcttacctagcccGtgacctccgattgacactga	9	14	0	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:153585626G>T	ENST00000369850.3	-	30	5198	c.4962C>A	c.(4960-4962)caC>caA	p.H1654Q	FLNA_ENST00000360319.4_Intron|FLNA_ENST00000344736.4_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000369856.3_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1654					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)					TACCTAGCCCGTGACCTCCGA	0.637																																						ENST00000369850.3																			0				breast(6)	6						c.(4960-4962)caC>caA		filamin A, alpha							65	62	63					X																	153585626		1567	3582	5149	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153585626G>T	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.4962C>A	X.37:g.153585626G>T	ENSP00000358866:p.His1654Gln					FLNA_ENST00000344736.4_Intron|FLNA_ENST00000360319.4_Intron|FLNA_ENST00000422373.1_Intron|FLNA_ENST00000369856.3_Intron	p.H1654Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN			30	5198	-	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)		1654					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4962C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239440	0.58995	.	.	ENSG00000196924	ENST00000369852;ENST00000369850	D	0.85258	-1.96	5.47	5.47	0.80525	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.87406	0.6169	L	0.43152	1.355	0.80722	D	1	D	0.63046	0.992	D	0.68765	0.96	D	0.84623	0.0685	10	0.24483	T	0.36	.	11.2512	0.49026	0.0901:0.0:0.9099:0.0	.	1654	P21333	FLNA_HUMAN	Q	1627;1654	ENSP00000358866:H1654Q	ENSP00000358866:H1654Q	H	-	3	2	FLNA	153238820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.102000	0.50291	2.294000	0.77228	0.529000	0.55759	CAC		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			27	39	1	0	1.55811e-20	1	1.68376e-20	27	39					T	153585626	G	T	153585626	3	4	464	1	0	0	0	0	1	0	0	0	5933	1136	40	4	3057	4	FLNA	23	153585626	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	22234506	153585626	1684934	49	38496											
ZC3H11A	9877	broad.mit.edu	37	chr1	203786224	203786225	+	Frame_Shift_Ins	INS	-	-	T													aatcaaggagaagactgctaINStttttttttctattccacat							TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:203786224_203786225insT	ENST00000545588.1	+	2	3853_3854	c.26_27insT	c.(25-30)tattttfs	p.YF9fs	ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.YF9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	9					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)			GAAGACTGCTATTTTTTTTTCT	0.371																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(25-27)tttfs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203786224_203786225insT		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.35dupT	1.37:g.203786233_203786233dupT	ENSP00000438527:p.Tyr9fs					ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.F9fs	p.F9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	3853_3854	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		9					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.26_27insT	CCDS30978.1																																																																																				0.371	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		8	244						8	244	---	---	---	---	T	203786225	-	T	203786224	7	5	465	1	0	1	1	0	0	0	0	0	17557	449	16	0	28	0	ZC3H11A	1	203786224	Frame_Shift_Ins	INS	-	TCGA-TM-A84B-01A-11D-A36O-08		203786224	45464397	1	38497											
OBSCN	84033	broad.mit.edu	37	chr1	228564858	228564858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagacagcagtgctgcgCgaatacgaggccctcaaggg	14	11	1	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:228564858C>T	ENST00000422127.1	+	101	23189	c.23145C>T	c.(23143-23145)cgC>cgT	p.R7715R	OBSCN_ENST00000570156.2_Silent_p.R8672R|OBSCN_ENST00000366707.4_Silent_p.R5349R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7715	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CAGTGCTGCGCGAATACGAGG	0.677																																						ENST00000570156.2																			0				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						c.(26014-26016)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14	18	17					1																	228564858		2046	4189	6235	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228564858C>T	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.23145C>T	1.37:g.228564858C>T						OBSCN_ENST00000366707.4_Silent_p.R5349R|OBSCN_ENST00000422127.1_Silent_p.R7715R	p.R8672R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			112	26090	+		Prostate(94;0.0405)	7715					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.26016C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311886	0.23821	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.82	-9.64	0.00541	.	0.891167	0.09393	N	0.808263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6403	0.02751	0.2521:0.3435:0.1962:0.2083	.	.	.	.	X	2332	.	ENSP00000388554:R2332X	R	+	1	2	OBSCN	226631481	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.988000	0.03739	-4.183000	0.00067	-0.752000	0.03492	CGA		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	10	0	0	0	1	0	6	10					T	228564858	C	T	228564858	2	4	465	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228564858	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	24778634	228564858	20685763	2	38498											
TBCE	6905	broad.mit.edu	37	chr1	235543460	235543460	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgtccctcccgtGgcaggtaagcaattattgtg	13	9	0	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:235543460G>C	ENST00000366601.3	+	2	272	c.96G>C	c.(94-96)gtG>gtC	p.V32V	TBCE_ENST00000406207.1_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Silent_p.V32V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	32	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TCCCTCCCGTGGCAGGTAAGC	0.443																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(94-96)gtG>gtC		tubulin folding cofactor E							147	121	130					1																	235543460		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235543460G>C	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"tubulin-specific chaperone e", "Kenny-Caffey syndrome", "hypoparathyroidism, growth and mental retardation, and dysmorphism"	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.96G>C	1.37:g.235543460G>C						TBCE_ENST00000366601.3_Silent_p.V32V|TBCE_ENST00000406207.1_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR	p.V32V			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		2	202	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	32			CAP-Gly.		A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.96G>C	CCDS1605.1																																																																																				0.443	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		17	28	0	0	0	1	0	17	28					C	235543460	G	C	235543460	2	2	465	1	0	0	0	0	0	0	0	1	15631	1335	47	4		4	TBCE	1	235543460	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	6978602	235543460	13707161	3	38499											
PXDN	7837	broad.mit.edu	37	chr2	1653369	1653369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgagcagttgttcacgCgccggtgggcggtacagccc	15	13	1	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:1653369C>T	ENST00000252804.4	-	17	2233	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	728					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)	p.R728H(1)		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)		GTTGTTCACGCGCCGGTGGGC	0.602																																						ENST00000252804.4																			1	Substitution - Missense(1)	p.R728H(1)	lung(1)	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						c.(2182-2184)cGc>cAc		peroxidasin homolog (Drosophila)							84	91	89					2																	1653369		2089	4207	6296	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653369C>T	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.2183G>A	2.37:g.1653369C>T	ENSP00000252804:p.Arg728His						p.R728H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2233	-	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)	728					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2183G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310209	0.60414	.	.	ENSG00000130508	ENST00000252804	T	0.61510	0.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.34521	1.04	0.80722	D	1	B	0.26775	0.159	B	0.24701	0.055	T	0.41698	-0.9494	10	0.36615	T	0.2	-42.8173	19.7328	0.96190	0.0:1.0:0.0:0.0	.	728	Q92626	PXDN_HUMAN	H	728	ENSP00000252804:R728H	ENSP00000252804:R728H	R	-	2	0	PXDN	1632376	1.000000	0.71417	0.982000	0.44146	0.843000	0.47879	7.702000	0.84576	2.661000	0.90470	0.558000	0.71614	CGC		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		29	32	0	0	0	1	0	29	32					T	1653369	C	T	1653369	3	4	465	1	0	0	0	0	1	0	0	0	12847	768	27	1	2284	1	PXDN	2	1653369	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		1653369	241546004	4	38500											
ETAA1	54465	broad.mit.edu	37	chr2	67631743	67631743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagatcaataataattcCgaacatggagccaaactaac	7	8	1	1	rs201848293		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:67631743C>T	ENST00000272342.5	+	5	2059	c.1929C>T	c.(1927-1929)tcC>tcT	p.S643S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	643						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATAATAATTCCGAACATGGAG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		22623	0.0		0.001	False		,,,				2504	0.0					ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1927-1929)tcC>tcT		Ewing tumor-associated antigen 1							111	115	114					2																	67631743		2202	4300	6502	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67631743C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1929C>T	2.37:g.67631743C>T						ETAA1_ENST00000462772.1_Intron	p.S643S	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2059	+			643					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.1929C>T	CCDS1882.1																																																																																				0.358	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		68	99	0	0	0	1	0	68	99					T	67631743	C	T	67631743	2	4	465	1	0	0	0	0	0	0	0	1	5267	639	23	1		1	ETAA1	2	67631743	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	65978374	67631743	175567630	5	38501											
RGPD4	285190	broad.mit.edu	37	chr2	108455411	108455411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtcctgcaatttaTaaactaaaggtaaacaaaca	6	8	0	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:108455411T>C	ENST00000408999.3	+	4	473	c.396T>C	c.(394-396)taT>taC	p.Y132Y	RGPD4_ENST00000354986.4_Silent_p.Y132Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	132					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGCAATTTATAAACTAAAGG	0.318																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(394-396)taT>taC		RANBP2-like and GRIP domain containing 4							22	42	37					2																	108455411		223	780	1003	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108455411T>C	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.396T>C	2.37:g.108455411T>C						RGPD4_ENST00000354986.4_Silent_p.Y132Y	p.Y132Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			4	473	+			132					B9A029	Silent	SNP	ENST00000408999.3	37	c.396T>C	CCDS46381.1																																																																																				0.318	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		69	67	0	0	0	1	0	69	67					C	108455411	T	C	108455411	2	2	465	1	0	0	0	0	0	0	0	1	13288	1413	49	3		3	RGPD4	2	108455411	Silent	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08	40823668	108455411	134743962	6	38502											
SCN9A	6335	broad.mit.edu	37	chr2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacatcctcttgtttccGttttagtgtggttgtgatgg	11	7	1	2	rs560168893		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:167055493G>A	ENST00000409435.1	-	26	5655	c.5656C>T	c.(5656-5658)Cgg>Tgg	p.R1886W	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1887W|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1887W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1886					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)	p.R1875W(1)		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)	TCTTGTTTCCGTTTTAGTGTG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		22189	0.001		0.0	False		,,,				2504	0.0					ENST00000375387.4																			1	Substitution - Missense(1)	p.R1875W(1)	large_intestine(1)	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						c.(5659-5661)Cgg>Tgg		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						183	199	194					2																	167055493		2202	4300	6502	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055493G>A	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.5656C>T	2.37:g.167055493G>A	ENSP00000386330:p.Arg1886Trp					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1886W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1887W	p.R1887W			Q15858	SCN9A_HUMAN			27	5999	-			1886					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5659C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332432	0.41297	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96587	-4.04;-4.06;-4.06;-4.06	6.17	0.862	0.19056	.	0.000000	0.52532	D	0.000068	D	0.97692	0.9243	M	0.78916	2.43	0.53005	D	0.999965	D	0.89917	1.0	D	0.85130	0.997	D	0.96903	0.9661	10	0.49607	T	0.09	.	16.6386	0.85065	0.0:0.0:0.4447:0.5553	.	1875	E7EUN6	.	W	1875;1887;1887;1886	ENSP00000386306:R1875W;ENSP00000364536:R1887W;ENSP00000304748:R1887W;ENSP00000386330:R1886W	ENSP00000304748:R1887W	R	-	1	2	SCN9A	166763739	1.000000	0.71417	0.971000	0.41717	0.587000	0.36485	1.079000	0.30766	0.132000	0.18615	-0.181000	0.13052	CGG		0.403	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		48	78	0	0	0	1	0	48	78					A	167055493	G	A	167055493	3	1	465	1	0	0	0	0	1	0	0	0	13925	1144	40	1	314	1	SCN9A	2	167055493	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	58600082	167055493	76143880	7	38503											
TTN	7273	broad.mit.edu	37	chr2	179485844	179485844	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttaccaatgactgtcaagtGagctgctgctctggcggccc	11	13	2	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:179485844G>A	ENST00000591111.1	-	196	40902	c.40678C>T	c.(40678-40680)Cac>Tac	p.H13560Y	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H15201Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13560	Ig-like 91.				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)			ACTGTCAAGTGAGCTGCTGCT	0.383																																						ENST00000589042.1																			0				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						c.(45601-45603)Cac>Tac		titin							88	84	85					2																	179485844		1930	4130	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485844G>A	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.40678C>T	2.37:g.179485844G>A	ENSP00000465570:p.His13560Tyr					TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13560Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.H15201Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	45825	-			13560			Fibronectin type-III 10.		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	ENST00000591111.1	37	c.45601C>T		.	.	.	.	.	.	.	.	.	.	G	12.04	1.818662	0.32145	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28896	0.0717	N	0.11023	0.085	0.31778	N	0.631287	B;B;B;B	0.12630	0.001;0.001;0.006;0.006	B;B;B;B	0.15052	0.008;0.008;0.012;0.008	T	0.30268	-0.9984	9	0.87932	D	0	.	15.3037	0.73976	0.0:0.1394:0.8606:0.0	.	6136;6261;6328;13560	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	12633;6136;6328;6261;6136	ENSP00000343764:H12633Y;ENSP00000434586:H6136Y;ENSP00000340554:H6328Y;ENSP00000352154:H6261Y	ENSP00000340554:H6328Y	H	-	1	0	TTN	179194089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.872000	0.69636	2.669000	0.90835	0.655000	0.94253	CAC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	16	0	0	0	1	0	18	16					A	179485844	G	A	179485844	3	1	465	1	0	0	0	0	1	0	0	0	16732	1290	45	2	62560	2	TTN	2	179485844	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	12430351	179485844	63713529	8	38504											
STAT1	6772	broad.mit.edu	37	chr2	191865866	191865866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtctaacatcactgtGctctgaatattccccgactg	7	11	3	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:191865866G>A	ENST00000361099.3	-	6	783	c.396C>T	c.(394-396)agC>agT	p.S132S	STAT1_ENST00000392322.3_Silent_p.S132S|STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	132					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)			ACATCACTGTGCTCTGAATAT	0.413																																						ENST00000361099.3																			0				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						c.(394-396)agC>agT		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						232	195	208					2																	191865866		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191865866G>A		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.396C>T	2.37:g.191865866G>A						STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392322.3_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S	p.S132S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		6	783	-			132					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.396C>T	CCDS2309.1																																																																																				0.413	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		25	34	0	0	0	1	0	25	34					A	191865866	G	A	191865866	2	1	465	1	0	0	0	0	0	0	0	1	15263	1310	46	2		2	STAT1	2	191865866	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	12380022	191865866	51333507	9	38505											
FAM126B	285172	broad.mit.edu	37	chr2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctttatccttggctgaaCgcccagttgctactttcctt	6	12	1	1	rs138872845		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	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	382						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1144-1146)cGt>cAt		family with sequence similarity 126, member B		C	HIS/ARG	0,4406		0,0,2203	102	100	101		1145	5.8	1	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM126B	NM_173822.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/531	201846441	1,13005	2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846441C>T	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.1145G>A	2.37:g.201846441C>T	ENSP00000393667:p.Arg382His					AC005037.3_ENST00000413848.1_RNA	p.R382H	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1332	-			382					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1145G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927537	0.52759	0.0	1.16E-4	ENSG00000155744	ENST00000418596	T	0.80393	-1.37	5.76	5.76	0.90799	.	0.052330	0.85682	D	0.000000	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.84551	0.0644	10	0.40728	T	0.16	-9.4248	19.9664	0.97271	0.0:1.0:0.0:0.0	.	188;382	B3KUG1;Q8IXS8	.;F126B_HUMAN	H	382	ENSP00000393667:R382H	ENSP00000393667:R382H	R	-	2	0	FAM126B	201554686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.718000	0.92993	0.655000	0.94253	CGT		0.493	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		22	31	0	0	0	1	0	22	31					T	201846441	C	T	201846441	3	4	465	1	0	0	0	0	1	0	0	0	5430	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	9980575	201846441	41352932	10	38506											
SNED1	25992	broad.mit.edu	37	chr2	242002232	242002232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgagtgccggtctcagcCgtgcctgcatgggggctctt	15	12	2	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:242002232C>T	ENST00000310397.8	+	17	2282	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|SNED1_ENST00000342631.6_Missense_Mutation_p.P761L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	761	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		CGGTCTCAGCCGTGCCTGCAT	0.557																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2281-2283)cCg>cTg		sushi, nidogen and EGF-like domains 1							45	45	45					2																	242002232		2037	4194	6231	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242002232C>T	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.2282C>T	2.37:g.242002232C>T	ENSP00000308893:p.Pro761Leu					SNED1_ENST00000342631.6_Missense_Mutation_p.P761L|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA	p.P761L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		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)	17	2282	+		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)	761			EGF-like 11; calcium-binding (Potential).		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.2282C>T	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883234	0.51908	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	4.71	3.83	0.44106	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.113631	0.39615	N	0.001307	D	0.97763	0.9266	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98115	1.0422	10	0.87932	D	0	.	12.9738	0.58527	0.0:0.9211:0.0:0.0789	.	761	Q8TER0	SNED1_HUMAN	L	761	ENSP00000384871:P761L;ENSP00000386007:P761L;ENSP00000308893:P761L;ENSP00000342992:P761L	ENSP00000308893:P761L	P	+	2	0	SNED1	241650905	1.000000	0.71417	0.889000	0.34880	0.067000	0.16453	6.340000	0.72973	0.974000	0.38366	-0.150000	0.13652	CCG		0.557	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		3	11	0	0	0	1	0	3	11					T	242002232	C	T	242002232	3	4	465	1	0	0	0	0	1	0	0	0	14845	652	23	1	2348	1	SNED1	2	242002232	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	40155791	242002232	1197141	11	38507											
UGT2A1	10941	broad.mit.edu	37	chr4	70465099	70465099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccatagtctcacataaCgtagtgggtcttcctggaga	9	11	2	1	rs141938191		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:70465099C>T	ENST00000503640.1	-	2	784	c.729G>A	c.(727-729)acG>acA	p.T243T	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000286604.4_Silent_p.T287T|UGT2A1_ENST00000512704.1_Silent_p.T243T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	243					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTCACATAACGTAGTGGGTC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.001					ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(727-729)acG>acA		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus		C	,	1,4405	2.1+/-5.4	0,1,2202	71	68	69		756,729	-0.9	0.1	4	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	252/537,243/528	70465099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70465099C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"UDP glucuronosyltransferases"	12542	protein-coding gene	gene with protein product		604716	"UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1"			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.729G>A	4.37:g.70465099C>T						UGT2A1_ENST00000512704.1_Silent_p.T243T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A1_ENST00000286604.4_Silent_p.T287T	p.T243T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			2	784	-			243					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.729G>A	CCDS3529.1																																																																																				0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		27	37	0	0	0	1	0	27	37					T	70465099	C	T	70465099	2	4	465	1	0	0	0	0	0	0	0	1	16950	523	19	1		1	UGT2A1	4	70465099	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		70465099	120689177	12	38508											
SLC25A4	291	broad.mit.edu	37	chr4	186066341	186066341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctaccagggtttcaacGtctctgtccaaggcatcatt	9	12	4	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:186066341G>A	ENST00000281456.6	+	2	667	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	179					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		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)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GGGTTTCAACGTCTCTGTCCA	0.562																																						ENST00000281456.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(535-537)Gtc>Atc		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	Adenosine triphosphate(DB00171)|Clodronate(DB00720)						49	51	50					4																	186066341		2203	4300	6503	SO:0001583	missense	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186066341G>A	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.535G>A	4.37:g.186066341G>A	ENSP00000281456:p.Val179Ile					SLC25A4_ENST00000515584.1_3'UTR	p.V179I	NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	667	+		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)	179					D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	c.535G>A	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952825	0.73787	.	.	ENSG00000151729	ENST00000281456	T	0.79247	-1.25	5.61	5.61	0.85477	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	L	0.47016	1.485	0.80722	D	1	B	0.30021	0.265	B	0.26693	0.072	T	0.70171	-0.4945	10	0.41790	T	0.15	0.662	19.8947	0.96949	0.0:0.0:1.0:0.0	.	179	P12235	ADT1_HUMAN	I	179	ENSP00000281456:V179I	ENSP00000281456:V179I	V	+	1	0	SLC25A4	186303335	1.000000	0.71417	0.946000	0.38457	0.898000	0.52572	9.653000	0.98506	2.937000	0.99478	0.650000	0.86243	GTC		0.562	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		12	15	0	0	0	1	0	12	15					A	186066341	G	A	186066341	3	1	465	1	0	0	0	0	1	0	0	0	14504	1145	40	1	541	1	SLC25A4	4	186066341	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	115601242	186066341	5087935	13	38509											
PCDHA3	56145	broad.mit.edu	37	chr5	140182557	140182557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcgggccacgtggtagCgaaggtgcgcgcagtggatg	21	8	0	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr5:140182557C>T	ENST00000522353.2	+	1	1775	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	592	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(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)			CACGTGGTAGCGAAGGTGCGC	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1774-1776)gCg>gTg									99	96	97					5																	140182557		2203	4300	6503	SO:0001583	missense	0							g.chr5:140182557C>T	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.1775C>T	5.37:g.140182557C>T	ENSP00000429808:p.Ala592Val					PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A592V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1775	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1775C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	10.76	1.440612	0.25900	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.51574	0.7;0.7	4.18	3.29	0.37713	Cadherin (3);Cadherin-like (1);	0.483859	0.14751	U	0.300579	T	0.39809	0.1092	L	0.47016	1.485	0.22581	N	0.998966	P;B	0.37594	0.601;0.142	B;B	0.31290	0.121;0.127	T	0.22556	-1.0213	10	0.59425	D	0.04	.	13.4575	0.61208	0.0:0.7001:0.2999:0.0	.	592;592	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	592	ENSP00000429808:A592V;ENSP00000434086:A592V	ENSP00000429808:A592V	A	+	2	0	PCDHA3	140162741	0.003000	0.15002	0.993000	0.49108	0.212000	0.24457	1.876000	0.39588	0.853000	0.35312	0.313000	0.20887	GCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		42	42	0	0	0	1	0	42	42					T	140182557	C	T	140182557	3	4	465	1	0	0	0	0	1	0	0	0	11525	768	27	1	1777	1	PCDHA3	5	140182557	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		140182557	40732703	14	38510											
UNCX	340260	broad.mit.edu	37	chr7	1275471	1275471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatccggctgctctaggtcTggttccaaaaccgccgggcc	11	15	2	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:1275471T>C	ENST00000316333.8	+	3	565	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	152					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)		GCTCTAGGTCTGGTTCCAAAA	0.697																																						ENST00000316333.8																			0				lung(2)|skin(1)|upper_aerodigestive_tract(1)	4						c.(454-456)Tgg>Cgg		UNC homeobox							12	17	15					7																	1275471		2179	4284	6463	SO:0001583	missense	340260				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1275471T>C		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.454T>C	7.37:g.1275471T>C	ENSP00000314480:p.Trp152Arg						p.W152R	NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	565	+		Ovarian(82;0.11)	152					A4D221	Missense_Mutation	SNP	ENST00000316333.8	37	c.454T>C	CCDS34583.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432839	0.43224	.	.	ENSG00000164853	ENST00000316333	D	0.99822	-6.94	4.27	4.27	0.50696	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.56097	U	0.000026	D	0.99910	0.9957	H	0.99867	4.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96114	0.9079	10	0.87932	D	0	-16.7764	12.4027	0.55422	0.0:0.0:0.0:1.0	.	152	A6NJT0	UNC4_HUMAN	R	152	ENSP00000314480:W152R	ENSP00000314480:W152R	W	+	1	0	UNCX	1241997	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.359000	0.66074	1.818000	0.53035	0.329000	0.21502	TGG		0.697	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324910.2	NM_001080461		8	14	0	0	0	1	0	8	14					C	1275471	T	C	1275471	3	2	465	1	0	0	0	0	1	0	0	0	16995	1580	55	3	464	3	UNCX	7	1275471	Missense_Mutation	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08		1275471	157863192	15	38511											
AHR	196	broad.mit.edu	37	chr7	17379426	17379426	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattggaactctaaccaattCgtgcctttcaattgtccaca	5	11	2	0	rs139422560	byFrequency	TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:17379426C>T	ENST00000242057.4	+	10	2620	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	659					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CTAACCAATTCGTGCCTTTCA	0.408																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1975-1977)ttC>ttT		aryl hydrocarbon receptor		C		2,4404	4.2+/-10.8	0,2,2201	149	127	134		1977	-12.3	0	7	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	AHR	NM_001621.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		659/849	17379426	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379426C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1977C>T	7.37:g.17379426C>T							p.F659F	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2620	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		659					A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.1977C>T	CCDS5366.1																																																																																				0.408	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		45	102	0	0	0	1	0	45	102					T	17379426	C	T	17379426	2	4	465	1	0	0	0	0	0	0	0	1	416	883	31	1		1	AHR	7	17379426	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	16103955	17379426	141759237	16	38512											
HECW1	23072	broad.mit.edu	37	chr7	43477672	43477672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagtttgccaagagccGccccatcatcaagcgcttct	9	14	3	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:43477672G>A	ENST00000395891.2	+	9	1477	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R291H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	291	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GCCAAGAGCCGCCCCATCATC	0.473																																						ENST00000395891.1																			0				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						c.(871-873)cGc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							100	106	104					7																	43477672		2046	4233	6279	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43477672G>A	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.872G>A	7.37:g.43477672G>A	ENSP00000379228:p.Arg291His					HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R291H	p.R291H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			9	1477	+			291			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.872G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.954632	0.97139	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46451	0.87;0.87	6.17	6.17	0.99709	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	T	0.68302	0.2986	M	0.75447	2.3	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	0.67995	-0.5526	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	291;323;291	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	H	291;291;290	ENSP00000379228:R291H;ENSP00000407774:R291H	ENSP00000265522:R290H	R	+	2	0	HECW1	43444197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.473	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		33	72	0	0	0	1	0	33	72					A	43477672	G	A	43477672	3	1	465	1	0	0	0	0	1	0	0	0	7042	1087	38	1	898	1	HECW1	7	43477672	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	26098246	43477672	115660991	17	38513											
SRRM3	222183	broad.mit.edu	37	chr7	75894112	75894112	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagtgcaaaagaaaagAgaagaacaaagagaagaaga	10	5	0	6			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:75894112A>T	ENST00000326382.8	+	9	911	c.704A>T	c.(703-705)gAg>gTg	p.E235V	SRRM3_ENST00000388802.4_Missense_Mutation_p.E235V	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	235	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AAAAGAAAAGAGAAGAACAAA	0.567																																						ENST00000388802.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(703-705)gAg>gTg		serine/arginine repetitive matrix 3							114	115	115					7																	75894112		1568	3582	5150	SO:0001583	missense	222183							g.chr7:75894112A>T	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.704A>T	7.37:g.75894112A>T	ENSP00000325298:p.Glu235Val					SRRM3_ENST00000326382.8_Missense_Mutation_p.E235V	p.E235V							9	913	+								A6ND75	Missense_Mutation	SNP	ENST00000326382.8	37	c.704A>T		.	.	.	.	.	.	.	.	.	.	A	15.91	2.973212	0.53614	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02606	4.23	4.23	4.23	0.50019	.	0.272855	0.25783	N	0.028327	T	0.10078	0.0247	L	0.55481	1.735	0.38050	D	0.935734	D	0.71674	0.998	D	0.76071	0.987	T	0.10823	-1.0613	10	0.40728	T	0.16	-15.5224	11.1075	0.48212	1.0:0.0:0.0:0.0	.	235	A6NNA2	SRRM3_HUMAN	V	235	ENSP00000373454:E235V	ENSP00000325298:E235V	E	+	2	0	SRRM3	75732048	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.517000	0.60503	1.914000	0.55421	0.454000	0.30748	GAG		0.567	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		13	21	0	0	0	1	0	13	21					T	75894112	A	T	75894112	3	4	465	1	0	0	0	0	1	0	0	0	15169	304	11	5	734	5	SRRM3	7	75894112	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08	32416440	75894112	83244551	18	38514											
ASB10	136371	broad.mit.edu	37	chr7	150883516	150883516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcagagatgcagggggcGtttcccatcctggtcagcga	15	12	1	1	rs151344605		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:150883516G>A	ENST00000420175.2	-	2	571	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C|ASB10_ENST00000422024.1_Missense_Mutation_p.R228C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	183			R -> C (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGGGGCGTTTCCCATCC	0.642																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(682-684)Cgc>Tgc		ankyrin repeat and SOCS box containing 10																																				SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150883516G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	17185	protein-coding gene	gene with protein product		615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.547C>T	7.37:g.150883516G>A	ENSP00000391137:p.Arg183Cys					ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000420175.2_Missense_Mutation_p.R183C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C	p.R228C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	807	-			183					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.682C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620817	0.28889	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.96	3.12	0.35913	Ankyrin repeat-containing domain (4);	0.342530	0.29987	N	0.010689	T	0.41880	0.1178	N	0.17631	0.505	0.28707	N	0.903732	B;B;B	0.14805	0.003;0.011;0.001	B;B;B	0.12156	0.006;0.007;0.005	T	0.36986	-0.9725	10	0.87932	D	0	-6.1227	4.3594	0.11194	0.0775:0.1334:0.5221:0.267	.	168;183;228	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	183;168;228;228;183	ENSP00000275838:R183C;ENSP00000367098:R168C;ENSP00000401369:R228C;ENSP00000398247:R228C;ENSP00000391137:R183C	ENSP00000275838:R183C	R	-	1	0	ASB10	150514449	0.038000	0.19896	0.718000	0.30602	0.909000	0.53808	1.311000	0.33562	0.598000	0.29829	-0.282000	0.10007	CGC		0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		4	5	0	0	0	1	0	4	5					A	150883516	G	A	150883516	3	1	465	1	0	0	0	0	1	0	0	0	1014	1145	40	1	872	1	ASB10	7	150883516	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	74989404	150883516	8255147	19	38515											
GPR124	25960	broad.mit.edu	37	chr8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagcaacacctcccGccctggagctgctgggcctg	11	18	0	0	rs576854487		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:37693223G>A	ENST00000412232.2	+	13	1998	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	662					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)			AACACCTCCCGCCCTGGAGCT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		12725	0.0		0.001	False		,,,				2504	0.0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1984-1986)cGc>cAc		G protein-coupled receptor 124							48	54	52					8																	37693223		2201	4299	6500	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693223G>A	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.1985G>A	8.37:g.37693223G>A	ENSP00000406367:p.Arg662His					GPR124_ENST00000315215.7_Intron	p.R662H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1998	+			662					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1985G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	6.429	0.447309	0.12223	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58358	0.34	5.29	5.29	0.74685	.	0.126543	0.50627	D	0.000105	T	0.34745	0.0908	L	0.28274	0.84	0.45035	D	0.998054	B	0.27450	0.179	B	0.15052	0.012	T	0.16424	-1.0403	10	0.23891	T	0.37	-32.2337	9.6335	0.39793	0.1552:0.0:0.8448:0.0	.	662	Q96PE1	GP124_HUMAN	H	655;662	ENSP00000406367:R662H	ENSP00000406367:R662H	R	+	2	0	GPR124	37812381	0.699000	0.27786	0.981000	0.43875	0.044000	0.14063	1.904000	0.39868	2.497000	0.84241	0.655000	0.94253	CGC		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			25	44	0	0	0	1	0	25	44					A	37693223	G	A	37693223	3	1	465	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2014	1	GPR124	8	37693223	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		37693223	108670799	20	38516											
PCMTD1	115294	broad.mit.edu	37	chr8	52733212	52733212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatctcatcatttatgAaatttctaagtgtgcgtcga	7	9	3	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:52733212A>G	ENST00000360540.5	-	7	1179	c.773T>C	c.(772-774)tTc>tCc	p.F258S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S|PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	258						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATCATTTATGAAATTTCTAAG	0.393																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(772-774)tTc>tCc		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							79	83	81					8																	52733212		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733212A>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.773T>C	8.37:g.52733212A>G	ENSP00000353739:p.Phe258Ser					PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S	p.F258S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1179	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	258					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.773T>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028615	0.35797	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.62639	0.01;0.01;0.01	5.77	5.77	0.91146	.	0.054690	0.85682	D	0.000000	T	0.47893	0.1470	L	0.36672	1.1	0.40091	D	0.976258	B;P;B	0.41848	0.201;0.763;0.002	B;B;B	0.39027	0.055;0.288;0.007	T	0.46721	-0.9171	10	0.21540	T	0.41	-31.2271	7.9301	0.29897	0.723:0.1415:0.0:0.1355	.	128;182;258	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	258;182;258	ENSP00000353739:F258S;ENSP00000444026:F182S;ENSP00000428099:F258S	ENSP00000353739:F258S	F	-	2	0	PCMTD1	52895765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.197000	0.65141	2.198000	0.70561	0.533000	0.62120	TTC		0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		5	96	0	0	0	1	0	5	96					G	52733212	A	G	52733212	3	3	465	1	0	0	0	0	1	0	0	0	11586	246	9	3	304	3	PCMTD1	8	52733212	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08	15039989	52733212	93630810	21	38517											
MPDZ	8777	broad.mit.edu	37	chr9	13108990	13108990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccatgagggctgccatatCctccaactatactgaagcct	7	14	0	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:13108990C>A	ENST00000319217.7	-	46	6258	c.6011G>T	c.(6010-6012)gGa>gTa	p.G2004V	MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V|MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2004	PDZ 13. {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)		GCTGCCATATCCTCCAACTAT	0.413																																						ENST00000319217.7																			0				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						c.(6010-6012)gGa>gTa		multiple PDZ domain protein							41	41	41					9																	13108990		1876	4104	5980	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13108990C>A	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.6011G>T	9.37:g.13108990C>A	ENSP00000320006:p.Gly2004Val					MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V	p.G2004V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	46	6258	-			2004			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.6011G>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.654175	0.88056	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;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;0.66;0.66;0.66	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.000000	0.44688	D	0.000430	T	0.80144	0.4569	H	0.96365	3.81	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.86034	0.1515	10	0.72032	D	0.01	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	1942;863;709;1971;1884;1975;2004;697	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	V	2004;1975;1975;545;238;940;863;1942;1971;2004;1884;2018	ENSP00000320006:G2004V;ENSP00000439807:G1975V;ENSP00000370410:G1975V;ENSP00000415964:G545V;ENSP00000445259:G238V;ENSP00000444230:G940V;ENSP00000444717:G863V;ENSP00000444151:G1942V;ENSP00000415208:G1971V;ENSP00000370403:G2004V;ENSP00000446358:G2018V	ENSP00000320006:G2004V	G	-	2	0	MPDZ	13098990	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	7.776000	0.85560	2.715000	0.92844	0.655000	0.94253	GGA		0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		7	6	1	0	8.12818e-05	1	8.12818e-05	7	6					A	13108990	C	A	13108990	3	1	465	1	0	0	0	0	1	0	0	0	9722	855	30	4	209	4	MPDZ	9	13108990	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		13108990	128104441	22	38518											
NDOR1	27158	broad.mit.edu	37	chr9	140110110	140110110	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctccttcctgcaataGgacctgtccgggtgcccctc	9	18	0	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:140110110G>A	ENST00000344894.5	+	11	1371		c.e11-1		NDOR1_ENST00000427047.2_Splice_Site|NDOR1_ENST00000371521.4_Splice_Site|NDOR1_ENST00000458322.2_Splice_Site	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCTGCAATAGGACCTGTCCG	0.607																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.e11-1		NADPH dependent diflavin oxidoreductase 1							55	59	57					9																	140110110		2202	4300	6502	SO:0001630	splice_region_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110110G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1289-1G>A	9.37:g.140110110G>A						NDOR1_ENST00000458322.2_Splice_Site|NDOR1_ENST00000344894.5_Splice_Site|NDOR1_ENST00000427047.2_Splice_Site		NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1371	+	all_cancers(76;0.0926)								Splice_Site	SNP	ENST00000344894.5	37		CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815112	0.16607	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	.	.	.	4.68	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6526	0.28356	0.1907:0.0:0.8093:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDOR1	139229931	0.998000	0.40836	0.497000	0.27552	0.039000	0.13416	3.651000	0.54431	2.153000	0.67306	0.561000	0.74099	.		0.607	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434	Intron	20	15	0	0	0	1	0	20	15					A	140110110	G	A	140110110	5	1	465	1	0	0	0	0	0	0	1	0	10249	1014	35	2	1330	2	NDOR1	9	140110110	Splice_Site	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	127001120	140110110	1103321	23	38519											
BMS1	9790	broad.mit.edu	37	chr10	43292066	43292066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgacgggttggaaaaCggctctagtgatgaggaagc	16	5	1	4	rs372823965		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:43292066C>T	ENST00000374518.5	+	10	1437	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	458					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTGGAAAACGGCTCTAGTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		23971	0.0		0.0	False		,,,				2504	0.001					ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1372-1374)aaC>aaT		BMS1 ribosome biogenesis factor		C		1,4405	2.1+/-5.4	0,1,2202	226	207	213		1374	-1.4	0.2	10		213	0,8600		0,0,4300	no	coding-synonymous	BMS1	NM_014753.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		458/1283	43292066	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292066C>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1374C>T	10.37:g.43292066C>T							p.N458N	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			10	1437	+			458					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.1374C>T	CCDS7199.1																																																																																				0.443	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		16	8	0	0	0	1	0	16	8					T	43292066	C	T	43292066	2	4	465	1	0	0	0	0	0	0	0	1	1472	535	19	1		1	BMS1	10	43292066	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		43292066	92242681	24	38520											
HKDC1	80201	broad.mit.edu	37	chr10	70986987	70986987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggttcctgtatcacatgCggctctccgatgacaccctt	8	14	2	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:70986987C>T	ENST00000354624.5	+	2	221	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	30	Hexokinase type-1 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						GTATCACATGCGGCTCTCCGA	0.612																																						ENST00000354624.5																			0				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						c.(88-90)Cgg>Tgg		hexokinase domain containing 1							120	106	111					10																	70986987		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:70986987C>T		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.88C>T	10.37:g.70986987C>T	ENSP00000346643:p.Arg30Trp					RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W	p.R30W	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			2	221	+			30					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.88C>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324597	0.81580	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98567	-5.0;-5.0	4.91	2.98	0.34508	Hexokinase, N-terminal (1);	0.051591	0.85682	D	0.000000	D	0.98611	0.9535	M	0.78049	2.395	0.53688	D	0.999972	D	0.89917	1.0	D	0.71656	0.974	D	0.98510	1.0618	10	0.51188	T	0.08	-19.6919	13.95	0.64111	0.2764:0.7236:0.0:0.0	.	30	Q2TB90	HKDC1_HUMAN	W	30	ENSP00000346643:R30W;ENSP00000378521:R30W	ENSP00000346643:R30W	R	+	1	2	HKDC1	70656993	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.807000	0.47955	0.716000	0.32124	0.655000	0.94253	CGG		0.612	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		4	35	0	0	0	1	0	4	35					T	70986987	C	T	70986987	3	4	465	1	0	0	0	0	1	0	0	0	7193	759	27	1	94	1	HKDC1	10	70986987	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	27694921	70986987	64547760	25	38521											
PTEN	5728	broad.mit.edu	37	chr10	89712016	89712019	+	Splice_Site	DEL	AGTA	AGTA	-													tgttcagtggcggaacttgcAgtaagtgcttgaaattctca							TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:89712016_89712019delAGTA	ENST00000371953.3	+	6	1991	c.634delAGTA	c.(634-636)agt>gt	p.S212fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	212	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(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)		CGGAACTTGCAGTAAGTGCTTGAA	0.338		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Unknown(11)|Deletion - Frameshift(10)|Deletion - In frame(1)	p.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(14)|skin(8)|endometrium(4)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|kidney(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	GRCh37	CS043793	PTEN	S		c.e6+1		phosphatase and tensin homolog																																				SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89712016_89712019delAGTA	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.634+1AGTA>-	10.37:g.89712016_89712019delAGTA		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.212_splice	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	6	1991	+		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)	212			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	DEL	ENST00000371953.3	37	c.634_splice	CCDS31238.1																																																																																				0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Frame_Shift_Del	55	15						55	15	---	---	---	---	-	89712019	AGTA	-	89712016	8	5	465	1	0	1	0	1	0	0	1	0	12738	202	7	0	656	0	PTEN	10	89712016	Splice_Site	DEL	AGTA	TCGA-TM-A84B-01A-11D-A36O-08	18725029	89712016	45822731	26	38522											
RAPSN	5913	broad.mit.edu	37	chr11	47469622	47469622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacagcttctcgttgctGcgtgccaggttcaggtagct	12	12	2	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr11:47469622G>A	ENST00000298854.2	-	2	486	c.273C>T	c.(271-273)cgC>cgT	p.R91R	RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R|RAPSN_ENST00000524487.1_Silent_p.R91R	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	91					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCTCGTTGCTGCGTGCCAGGT	0.632																																						ENST00000298854.2																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(271-273)cgC>cgT		receptor-associated protein of the synapse							91	71	78					11																	47469622		2201	4298	6499	SO:0001819	synonymous_variant	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47469622G>A		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.273C>T	11.37:g.47469622G>A						RAPSN_ENST00000524487.1_Silent_p.R91R|RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R	p.R91R	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN			2	486	-			91					Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	c.273C>T	CCDS7936.1																																																																																				0.632	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			9	23	0	0	0	1	0	9	23					A	47469622	G	A	47469622	2	1	465	1	0	0	0	0	0	0	0	1	13051	1306	46	2		2	RAPSN	11	47469622	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		47469622	87536894	27	38523											
PPFIA2	8499	broad.mit.edu	37	chr12	81746923	81746923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgttgatggcatccaAttgttcctgaagcatcatgg	9	8	2	2	rs573343081		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr12:81746923A>G	ENST00000549396.1	-	17	2129	c.1969T>C	c.(1969-1971)Ttg>Ctg	p.L657L	PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000549325.1_Silent_p.L639L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000550584.2_Silent_p.L657L|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000333447.7_Silent_p.L639L	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	657					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						ATGGCATCCAATTGTTCCTGA	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.001		0.0	False		,,,				2504	0.0					ENST00000550584.2																			0				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						c.(1969-1971)Ttg>Ctg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							144	136	138					12																	81746923		1949	4169	6118	SO:0001819	synonymous_variant	8499							g.chr12:81746923A>G	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.1969T>C	12.37:g.81746923A>G						PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000333447.7_Silent_p.L639L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.L657L|PPFIA2_ENST00000549325.1_Silent_p.L639L	p.L657L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			16	2264	-			583					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.1969T>C	CCDS55857.1																																																																																				0.368	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			19	28	0	0	0	1	0	19	28					G	81746923	A	G	81746923	2	3	465	1	0	0	0	0	0	0	0	1	12310	98	4	3		3	PPFIA2	12	81746923	Silent	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		81746923	52104972	28	38524											
C14orf39	317761	broad.mit.edu	37	chr14	60908817	60908817	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctctgatgacagaggAtttagatttcttgcagaata	9	6	3	5			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr14:60908817A>G	ENST00000321731.3	-	17	1695	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	512					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGACAGAGGATTTAGATTTC	0.274																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1534-1536)aaT>aaC		chromosome 14 open reading frame 39							79	85	83					14																	60908817		2202	4285	6487	SO:0001819	synonymous_variant	317761							g.chr14:60908817A>G	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1536T>C	14.37:g.60908817A>G							p.N512N	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	17	1695	-			512					Q08AQ4	Silent	SNP	ENST00000321731.3	37	c.1536T>C	CCDS9746.1																																																																																				0.274	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		34	43	0	0	0	1	0	34	43					G	60908817	A	G	60908817	2	3	465	1	0	0	0	0	0	0	0	1	1772	330	12	3		3	C14orf39	14	60908817	Silent	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		60908817	46440723	29	38525											
SLC27A2	11001	broad.mit.edu	37	chr15	50497454	50497454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctactcttgccttgcGgactaaattttcagccagcc	9	12	2	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr15:50497454G>A	ENST00000267842.5	+	4	1098	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	289					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)		CTTGCCTTGCGGACTAAATTT	0.398																																						ENST00000267842.5																			0				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						c.(865-867)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 2							132	119	124					15																	50497454		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497454G>A	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.866G>A	15.37:g.50497454G>A	ENSP00000267842:p.Arg289Gln					SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	p.R289Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1098	+		all_lung(180;0.00177)	289					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.866G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934027	0.73442	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.49432	0.78;1.0;1.0	5.13	5.13	0.70059	AMP-dependent synthetase/ligase (1);	0.108315	0.64402	D	0.000016	T	0.72550	0.3474	H	0.96080	3.765	0.43555	D	0.995866	P;D	0.56287	0.948;0.975	P;P	0.53266	0.631;0.722	T	0.81464	-0.0921	10	0.54805	T	0.06	.	16.13	0.81422	0.0:0.0:1.0:0.0	.	236;289	Q6PF09;O14975	.;S27A2_HUMAN	Q	236;289;54	ENSP00000370289:R236Q;ENSP00000267842:R289Q;ENSP00000444549:R54Q	ENSP00000267842:R289Q	R	+	2	0	SLC27A2	48284746	0.220000	0.23631	0.175000	0.22980	0.879000	0.50718	1.669000	0.37492	2.678000	0.91216	0.563000	0.77884	CGG		0.398	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		44	66	0	0	0	1	0	44	66					A	50497454	G	A	50497454	3	1	465	1	0	0	0	0	1	0	0	0	14526	1116	39	1	880	1	SLC27A2	15	50497454	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		50497454	52033938	30	38526											
CD19	930	broad.mit.edu	37	chr16	28943382	28943382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccatggaagtcaggcccGaggaacctctagtggtgaag	13	12	2	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:28943382G>A	ENST00000324662.3	+	1	105	c.61G>A	c.(61-63)Gag>Aag	p.E21K	CD19_ENST00000567541.1_Missense_Mutation_p.E21K|CD19_ENST00000538922.1_Missense_Mutation_p.E21K			P15391	CD19_HUMAN	CD19 molecule	21	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGTCAGGCCCGAGGAACCTCT	0.597																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(61-63)Gag>Aag		CD19 molecule							121	110	114					16																	28943382		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28943382G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.61G>A	16.37:g.28943382G>A	ENSP00000313419:p.Glu21Lys					CD19_ENST00000567541.1_Missense_Mutation_p.E21K|CD19_ENST00000324662.3_Missense_Mutation_p.E21K	p.E21K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			1	123	+			21			Ig-like C2-type 1.		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.61G>A	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641484	0.47153	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.36157	1.27;1.27	5.24	2.15	0.27550	Immunoglobulin-like (1);	0.629837	0.14059	N	0.344163	T	0.23926	0.0579	N	0.14661	0.345	0.19575	N	0.999965	B;B	0.19935	0.033;0.04	B;B	0.17098	0.01;0.017	T	0.20672	-1.0268	10	0.59425	D	0.04	-4.9244	13.3325	0.60497	0.0:0.5292:0.4708:0.0	.	21;21	F5H635;P15391	.;CD19_HUMAN	K	21;6;21	ENSP00000437940:E21K;ENSP00000313419:E21K	ENSP00000313419:E21K	E	+	1	0	CD19	28850883	0.005000	0.15991	0.720000	0.30636	0.012000	0.07955	0.807000	0.27140	0.205000	0.20568	-1.182000	0.01712	GAG		0.597	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			36	33	0	0	0	1	0	36	33					A	28943382	G	A	28943382	3	1	465	1	0	0	0	0	1	0	0	0	2973	1059	37	1	63	1	CD19	16	28943382	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		28943382	61411371	31	38527											
EDC4	23644	broad.mit.edu	37	chr16	67913854	67913854	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgagcagcacctcagcTgtggacccctccttgaccag	10	16	1	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:67913854T>C	ENST00000358933.5	+	16	2162	c.1923T>C	c.(1921-1923)gcT>gcC	p.A641A	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	641	Ser-rich.				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)				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)		GCACCTCAGCTGTGGACCCCT	0.612																																						ENST00000358933.5																			0				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						c.(1921-1923)gcT>gcC		enhancer of mRNA decapping 4							47	43	44					16																	67913854		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913854T>C	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.1923T>C	16.37:g.67913854T>C							p.A641A	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2162	+		Ovarian(137;0.0563)	641			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1923T>C	CCDS10849.1																																																																																				0.612	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	9	0	0	0	1	0	6	9					C	67913854	T	C	67913854	2	2	465	1	0	0	0	0	0	0	0	1	4908	1567	55	3		3	EDC4	16	67913854	Silent	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08	38970472	67913854	22440899	32	38528											
WWP2	11060	broad.mit.edu	37	chr16	69971126	69971126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggctgcgctactttgaCgagaaagagctggaggtgag	17	6	0	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:69971126C>T	ENST00000359154.2	+	20	2324	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000356003.2_Silent_p.D741D|WWP2_ENST00000542271.1_Silent_p.D625D|WWP2_ENST00000568684.1_Silent_p.D302D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	741	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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 transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTACTTTGACGAGAAAGAGC	0.602																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2221-2223)gaC>gaT		WW domain containing E3 ubiquitin protein ligase 2							67	64	65					16																	69971126		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69971126C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2223C>T	16.37:g.69971126C>T						WWP2_ENST00000568684.1_Silent_p.D302D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000542271.1_Silent_p.D625D|WWP2_ENST00000356003.2_Silent_p.D741D	p.D741D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			20	2324	+			741			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.2223C>T	CCDS10885.1																																																																																				0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		13	12	0	0	0	1	0	13	12					T	69971126	C	T	69971126	2	4	465	1	0	0	0	0	0	0	0	1	17413	535	19	1		1	WWP2	16	69971126	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	2057272	69971126	20383627	33	38529											
CDRT4	284040	broad.mit.edu	37	chr17	15341350	15341350	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctggaaggtttattctGccttgatgcccagggtcttt	12	9	2	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:15341350G>A	ENST00000312177.6	-	4	476	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	66										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GGTTTATTCTGCCTTGATGCC	0.483																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(196-198)Cag>Tag		CMT1A duplicated region transcript 4							180	154	163					17																	15341350		2203	4300	6503	SO:0001587	stop_gained	284040							g.chr17:15341350G>A	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.196C>T	17.37:g.15341350G>A	ENSP00000310031:p.Gln66*					TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.Q66*	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	476	-			66					A8MSL9|Q8IZ19	Nonsense_Mutation	SNP	ENST00000312177.6	37	c.196C>T		.	.	.	.	.	.	.	.	.	.	G	15.61	2.883145	0.51908	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	.	.	.	4.74	0.296	0.15757	.	1.465370	0.04577	N	0.394222	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3175	2.7853	0.05372	0.3359:0.0:0.4602:0.2039	.	.	.	.	X	67;66	.	ENSP00000310031:Q66X	Q	-	1	0	CDRT4	15282075	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.507000	0.22675	0.235000	0.21160	-0.230000	0.12252	CAG		0.483	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		39	38	0	0	0	1	0	39	38					A	15341350	G	A	15341350	4	1	465	1	0	0	0	0	0	1	0	0	3176	1328	46	2	263	2	CDRT4	17	15341350	Nonsense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		15341350	65853860	34	38530											
HN1	51155	broad.mit.edu	37	chr17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccaccacctggaggccGcaaaactctgcaaataatgg	10	12	1	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000470924.1_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000476258.1_5'UTR|Y_RNA_ENST00000516233.1_RNA|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|RP11-649A18.4_ENST00000579554.1_RNA|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393																																						ENST00000409753.3																		HN1/USH1G(2)	0				breast(1)	1						c.(64-66)Cgg>Tgg		hematological and neurological expressed 1							65	59	61					17																	73144759		2203	4300	6503	SO:0001583	missense	51155					nucleus		g.chr17:73144759G>A	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.64C>T	17.37:g.73144759G>A	ENSP00000387059:p.Arg22Trp					HN1_ENST00000482348.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR	p.R22W	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN			2	349	-	all_lung(278;0.14)|Lung NSC(278;0.168)		22					B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	c.64C>T	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702560	0.30232	.	.	ENSG00000189159	ENST00000409753;ENST00000356033;ENST00000409135	.	.	.	4.55	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68483	0.736;0.958;0.941	T	0.77720	-0.2482	9	0.87932	D	0	-27.1706	9.6699	0.40006	0.0:0.1517:0.6916:0.1568	.	22;22;22	B8ZZT7;Q9UK76-2;Q9UK76	.;.;HN1_HUMAN	W	22	.	ENSP00000348316:R22W	R	-	1	2	HN1	70656354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.275000	0.51639	2.364000	0.80123	0.563000	0.77884	CGG		0.393	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		3	51	0	0	0	1	0	3	51					A	73144759	G	A	73144759	3	1	465	1	0	0	0	0	1	0	0	0	7249	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	57803409	73144759	8050451	35	38531											
SERPINB13	5275	broad.mit.edu	37	chr18	61264400	61264400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggctccgggttgtacGcccagaagttcctgcacagt	12	13	1	1	rs185543305		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr18:61264400G>A	ENST00000344731.5	+	8	1081	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	327					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGGGTTGTACGCCCAGAAGTT	0.592																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(979-981)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 13							77	71	73					18																	61264400		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264400G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.979G>A	18.37:g.61264400G>A	ENSP00000341584:p.Ala327Thr					SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T	p.A327T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			8	1081	+			327					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.979G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236423	0.39498	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84370	-1.84;-1.84	5.3	2.37	0.29283	Serpin domain (3);	0.959608	0.08622	N	0.918336	T	0.75428	0.3848	L	0.45352	1.415	0.09310	N	1	B;B;P	0.37573	0.178;0.032;0.6	B;B;B	0.25291	0.059;0.008;0.056	T	0.63056	-0.6722	10	0.59425	D	0.04	.	5.7344	0.18059	0.235:0.2581:0.5069:0.0	.	336;245;327	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	T	275;245;327	ENSP00000269489:A275T;ENSP00000341584:A327T	ENSP00000269489:A275T	A	+	1	0	SERPINB13	59415380	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.963000	0.03837	0.188000	0.20168	0.557000	0.71058	GCC		0.592	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		23	30	0	0	0	1	0	23	30					A	61264400	G	A	61264400	3	1	465	1	0	0	0	0	1	0	0	0	14100	1087	38	1	1005	1	SERPINB13	18	61264400	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		61264400	16812848	36	38532											
TNFSF14	8740	broad.mit.edu	37	chr19	6664992	6664992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacgcagtcgaaccaggCgttcatccagcacacggacg	10	15	2	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:6664992C>T	ENST00000599359.1	-	5	1049	c.668G>A	c.(667-669)cGc>cAc	p.R223H	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H|TNFSF14_ENST00000326176.9_Missense_Mutation_p.R187H			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCGAACCAGGCGTTCATCCAG	0.607																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(559-561)cGc>cAc		tumor necrosis factor (ligand) superfamily, member 14							187	153	165					19																	6664992		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664992C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.668G>A	19.37:g.6664992C>T	ENSP00000469049:p.Arg223His					TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H	p.R187H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	941	-			223					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.560G>A	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970269	0.18659	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.30448	1.53	4.46	-0.128	0.13506	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.337180	0.05076	N	0.482571	T	0.29093	0.0723	L	0.52364	1.645	0.09310	N	1	P;P	0.52842	0.956;0.946	B;B	0.41036	0.346;0.234	T	0.36841	-0.9731	10	0.54805	T	0.06	-15.216	8.2597	0.31777	0.0:0.4531:0.0:0.5469	.	223;187	O43557;O43557-2	TNF14_HUMAN;.	H	223;187	ENSP00000326940:R187H	ENSP00000245912:R223H	R	-	2	0	TNFSF14	6615992	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.117000	0.15583	-0.191000	0.10448	-0.258000	0.10820	CGC		0.607	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			41	73	0	0	0	1	0	41	73					T	6664992	C	T	6664992	3	4	465	1	0	0	0	0	1	0	0	0	16304	768	27	1	58	1	TNFSF14	19	6664992	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		6664992	52463991	37	38533											
ATG4D	84971	broad.mit.edu	37	chr19	10659651	10659651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggaagtctgtggtcatcCtggtgcccgtgcgactgggt	16	9	2	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:10659651C>T	ENST00000309469.4	+	6	1080	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	303					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGGTCATCCTGGTGCCCGT	0.632																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(907-909)Ctg>Ttg		autophagy related 4D, cysteine peptidase							117	88	98					19																	10659651		2203	4300	6503	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10659651C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.907C>T	19.37:g.10659651C>T						ATG4D_ENST00000540862.1_Intron	p.L303L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	1080	+			303					Q969K0	Silent	SNP	ENST00000309469.4	37	c.907C>T	CCDS12241.1																																																																																				0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		25	23	0	0	0	1	0	25	23					T	10659651	C	T	10659651	2	4	465	1	0	0	0	0	0	0	0	1	1099	680	24	2		2	ATG4D	19	10659651	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	3994659	10659651	48469332	38	38534											
LSM14A	26065	broad.mit.edu	37	chr19	34685400	34685400	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttcgatcctttggtacaGaagacagaccgacagatcgt	10	10	0	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685400G>A	ENST00000433627.5	+	2	214	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E47K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	47					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTTTGGTACAGAAGACAGACC	0.408																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(139-141)Gaa>Aaa		LSM14A, SCD6 homolog A (S. cerevisiae)							189	161	171					19																	34685400		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685400G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.139G>A	19.37:g.34685400G>A	ENSP00000413964:p.Glu47Lys					LSM14A_ENST00000433627.5_Missense_Mutation_p.E47K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K	p.E47K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	216	+	Esophageal squamous(110;0.162)		47					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.139G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689559	0.96784	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.74002	-0.52;-0.8;-0.6	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;0.979;1.0	D;D;D	0.97110	1.0;0.982;0.999	D	0.93106	0.6512	10	0.87932	D	0	-22.9178	19.5786	0.95455	0.0:0.0:1.0:0.0	.	47;47;47	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	47	ENSP00000446271:E47K;ENSP00000413964:E47K;ENSP00000446451:E47K	ENSP00000314768:E47K	E	+	1	0	LSM14A	39377240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.798000	0.99111	2.711000	0.92665	0.655000	0.94253	GAA		0.408	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		88	119	0	0	0	1	0	88	119					A	34685400	G	A	34685400	3	1	465	1	0	0	0	0	1	0	0	0	9054	943	33	2	145	2	LSM14A	19	34685400	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	24025749	34685400	24443583	39	38535			1	48		3	3	97	G		1.051012e-08
LSM14A	26065	broad.mit.edu	37	chr19	34685448	34685448	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacctcgagatgaagtctttGaatacattatattccgtggg	9	8	1	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685448G>A	ENST00000433627.5	+	2	262	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E63K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	63					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGAAGTCTTTGAATACATTAT	0.433																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(187-189)Gaa>Aaa		LSM14A, SCD6 homolog A (S. cerevisiae)							219	187	198					19																	34685448		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685448G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.187G>A	19.37:g.34685448G>A	ENSP00000413964:p.Glu63Lys					LSM14A_ENST00000433627.5_Missense_Mutation_p.E63K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K	p.E63K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	264	+	Esophageal squamous(110;0.162)		63					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.187G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	37	6.103602	0.97286	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.42900	0.98;0.96;1.1	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.79784	0.992;0.814;0.993	T	0.80350	-0.1419	10	0.72032	D	0.01	-15.4157	19.5786	0.95455	0.0:0.0:1.0:0.0	.	63;63;63	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	63	ENSP00000446271:E63K;ENSP00000413964:E63K;ENSP00000446451:E63K	ENSP00000314768:E63K	E	+	1	0	LSM14A	39377288	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.798000	0.99111	2.711000	0.92665	0.655000	0.94253	GAA		0.433	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		76	124	0	0	0	1	0	76	124					A	34685448	G	A	34685448	3	1	465	1	0	0	0	0	1	0	0	0	9054	1291	45	2	193	2	LSM14A	19	34685448	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	48	34685448	24443535	40	38536			1	48		3	3	97	G		1.051012e-08
LSM14A	26065	broad.mit.edu	37	chr19	34685496	34685496	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaaagaccttactgtttgtGagccaccaaaaccacagtgt	7	10	0	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685496G>A	ENST00000433627.5	+	2	310	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E79K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	79					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TACTGTTTGTGAGCCACCAAA	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(235-237)Gag>Aag		LSM14A, SCD6 homolog A (S. cerevisiae)							219	186	197					19																	34685496		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685496G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.235G>A	19.37:g.34685496G>A	ENSP00000413964:p.Glu79Lys					LSM14A_ENST00000433627.5_Missense_Mutation_p.E79K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K	p.E79K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	312	+	Esophageal squamous(110;0.162)		79					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.235G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986297	0.97173	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.36699	1.26;1.26;1.24	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.91249	3.19	0.80722	D	1	D;P;D	0.89917	1.0;0.951;0.999	D;P;D	0.76575	0.988;0.814;0.972	T	0.75153	-0.3418	10	0.54805	T	0.06	-3.5569	19.5786	0.95455	0.0:0.0:1.0:0.0	.	79;79;79	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	79	ENSP00000446271:E79K;ENSP00000413964:E79K;ENSP00000446451:E79K	ENSP00000314768:E79K	E	+	1	0	LSM14A	39377336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.798000	0.99111	2.711000	0.92665	0.655000	0.94253	GAG		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		82	108	0	0	0	1	0	82	108					A	34685496	G	A	34685496	3	1	465	1	0	0	0	0	1	0	0	0	9054	1291	45	2	241	2	LSM14A	19	34685496	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	48	34685496	24443487	41	38537			1	48		3	3	97	G		1.051012e-08
CEACAM20	125931	broad.mit.edu	37	chr19	45017234	45017234	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtatccctgtgttaccgtCtggcatttctgatgtagaga	10	9	2	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:45017234C>G	ENST00000454753.1	-	0	1702							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)				GTGTTACCGTCTGGCATTTCT	0.582											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							63	60	61					19																	45017234		1951	4146	6097			125931					integral to membrane		g.chr19:45017234C>G	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.45017234C>G			OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928					Q6UY09	CEA20_HUMAN			0	1702	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.582	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		18	25	0	0	0	1	0	18	25					G	45017234	C	G	45017234	1	3	465	0	1	0	0	0	0	0	0	0	3191	913	32	4		4	CEACAM20	19	45017234	RNA	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	10331738	45017234	14111749	42	38538											
PRR12	57479	broad.mit.edu	37	chr19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C													tggtctcggtccagcccagaINScccccccttaccgccctggc							TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)accfs	p.T224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						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)		TCCAGCCCAGACCCCCCCTTAC	0.703																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(670-672)cccfs		proline rich 12																																				SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50098262_50098263insC	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.677dupC	19.37:g.50098269_50098269dupC	ENSP00000394510:p.Thr224fs						p.P224fs	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	682_683	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	4			Pro-rich.		E9PB06|Q8N4J6	Frame_Shift_Ins	INS	ENST00000418929.2	37	c.670_671insC	CCDS46143.1																																																																																				0.703	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	6						4	6	---	---	---	---	C	50098263	-	C	50098262	7	5	465	1	0	1	1	0	0	0	0	0	12584	275	10	0	684	0	PRR12	19	50098262	Frame_Shift_Ins	INS	-	TCGA-TM-A84B-01A-11D-A36O-08	5081028	50098262	9030721	43	38539											
NLRP2	55655	broad.mit.edu	37	chr19	55494752	55494752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcctttggcctcgctaaCgagaagagagccaaggagtt	11	10	0	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:55494752C>T	ENST00000543010.1	+	6	1829	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000339757.7_Silent_p.N540N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000448584.2_Silent_p.N562N|NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000263437.6_Silent_p.N559N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	562					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTCGCTAACGAGAAGAGAG	0.542																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1684-1686)aaC>aaT		NLR family, pyrin domain containing 2							76	70	72					19																	55494752		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494752C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1686C>T	19.37:g.55494752C>T						NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000339757.7_Silent_p.N540N|NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000263437.6_Silent_p.N559N|NLRP2_ENST00000448584.2_Silent_p.N562N	p.N562N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1829	+			562					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1686C>T	CCDS12913.1																																																																																				0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		20	49	0	0	0	1	0	20	49					T	55494752	C	T	55494752	2	4	465	1	0	0	0	0	0	0	0	1	10477	535	19	1		1	NLRP2	19	55494752	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	5396490	55494752	3634231	44	38540											
HAO1	54363	broad.mit.edu	37	chr20	7915166	7915166	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcgccgtccacatgagccAtgcgctgcatggccgtagcc	12	16	0	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:7915166A>T	ENST00000378789.3	-	2	305	c.254T>A	c.(253-255)aTg>aAg	p.M85K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	85	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGAGCCATGCGCTGCAT	0.532																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(253-255)aTg>aAg		hydroxyacid oxidase (glycolate oxidase) 1							106	96	100					20																	7915166		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915166A>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.254T>A	20.37:g.7915166A>T	ENSP00000368066:p.Met85Lys						p.M85K	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			2	305	-			85			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.254T>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789527	0.90367	.	.	ENSG00000101323	ENST00000378789	T	0.31247	1.5	5.96	5.96	0.96718	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.033188	0.85682	D	0.000000	T	0.63768	0.2539	H	0.94847	3.59	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.57371	0.819;0.819	T	0.74006	-0.3803	10	0.87932	D	0	-6.9363	15.4206	0.75009	1.0:0.0:0.0:0.0	.	85;85	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	85	ENSP00000368066:M85K	ENSP00000368066:M85K	M	-	2	0	HAO1	7863166	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.843000	0.86859	2.280000	0.76307	0.533000	0.62120	ATG		0.532	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			23	26	0	0	0	1	0	23	26					T	7915166	A	T	7915166	3	4	465	1	0	0	0	0	1	0	0	0	6951	217	8	5	886	5	HAO1	20	7915166	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		7915166	55110354	45	38541											
CDH22	64405	broad.mit.edu	37	chr20	44839196	44839196	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggctgggattcgaagtccaGgcgctgcgggagggagcaga	20	8	0	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:44839196G>C	ENST00000372262.3	-	6	1436	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V	CDH22_ENST00000537909.1_Missense_Mutation_p.L346V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGAAGTCCAGGCGCTGCGGG	0.682																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1036-1038)Ctg>Gtg		cadherin 22, type 2							37	36	36					20																	44839196		2202	4298	6500	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839196G>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1036C>G	20.37:g.44839196G>C	ENSP00000361336:p.Leu346Val					CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.L346V	p.L346V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1436	-		Myeloproliferative disorder(115;0.0122)	346			Cadherin 3.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1036C>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147297	0.57151	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.73152	-0.72;-0.72	4.25	3.29	0.37713	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.82066	0.4956	M	0.77313	2.365	0.51012	D	0.999907	D	0.76494	0.999	D	0.87578	0.998	T	0.80690	-0.1270	10	0.30078	T	0.28	.	13.1966	0.59743	0.0:0.1612:0.8388:0.0	.	346	Q9UJ99	CAD22_HUMAN	V	346	ENSP00000361336:L346V;ENSP00000437790:L346V	ENSP00000361336:L346V	L	-	1	2	CDH22	44272603	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.604000	0.61112	1.006000	0.39211	0.555000	0.69702	CTG		0.682	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		12	16	0	0	0	1	0	12	16					C	44839196	G	C	44839196	3	2	465	1	0	0	0	0	1	0	0	0	3107	991	35	4	1474	4	CDH22	20	44839196	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	36924030	44839196	18186324	46	38542											
MAPK11	5600	broad.mit.edu	37	chr22	50705842	50705842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaccaggaattgaacgtgCtcgtcgctcagcgcctggca	11	12	1	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr22:50705842C>T	ENST00000330651.6	-	4	475	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|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 muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)	Regorafenib(DB08896)	ATTGAACGTGCTCGTCGCTCA	0.701																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(373-375)gaG>gaA		mitogen-activated protein kinase 11							24	30	28					22																	50705842		2190	4291	6481	SO:0001819	synonymous_variant	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705842C>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.375G>A	22.37:g.50705842C>T						MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR	p.E125E	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	475	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	125			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Silent	SNP	ENST00000330651.6	37	c.375G>A	CCDS14090.1																																																																																				0.701	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			10	2	0	0	0	1	0	10	2					T	50705842	C	T	50705842	2	4	465	1	0	0	0	0	0	0	0	1	9273	796	28	2		2	MAPK11	22	50705842	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		50705842	598724	47	38543											
SPEN	23013	broad.mit.edu	37	chr1	16259547	16259547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagatgaggctgtatctgGcatcctggaaactgaggctg	14	8	1	3			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:16259547G>A	ENST00000375759.3	+	11	7016	c.6812G>A	c.(6811-6813)gGc>gAc	p.G2271D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2271	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)		GCTGTATCTGGCATCCTGGAA	0.557																																						ENST00000375759.3																			0				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						c.(6811-6813)gGc>gAc		spen family transcriptional repressor							90	95	93					1																	16259547		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259547G>A		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.6812G>A	1.37:g.16259547G>A	ENSP00000364912:p.Gly2271Asp						p.G2271D	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		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)	11	7016	+		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)	2271			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.6812G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447025	0.25987	.	.	ENSG00000065526	ENST00000375759	T	0.08720	3.06	5.05	5.05	0.67936	.	.	.	.	.	T	0.15912	0.0383	L	0.47716	1.5	0.32056	N	0.59631	D	0.89917	1.0	D	0.83275	0.996	T	0.09862	-1.0655	9	0.12766	T	0.61	-17.9182	5.0846	0.14675	0.1279:0.0:0.6701:0.202	.	2271	Q96T58	MINT_HUMAN	D	2271	ENSP00000364912:G2271D	ENSP00000364912:G2271D	G	+	2	0	SPEN	16132134	0.979000	0.34478	1.000000	0.80357	0.354000	0.29330	1.268000	0.33062	2.339000	0.79563	0.462000	0.41574	GGC		0.557	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	126	0	0	0	1	0	4	126					A	16259547	G	A	16259547	3	1	466	1	0	0	0	0	1	0	0	0	15037	1203	42	2	6854	2	SPEN	1	16259547	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		16259547	232991074	1	38544											
KIF21B	23046	broad.mit.edu	37	chr1	200960121	200960121	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattttgcggttccactggcGcacgatgctggagacagagc	14	10	0	2	rs540134751		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:200960121G>C	ENST00000422435.2	-	18	2927	c.2611C>G	c.(2611-2613)Cgc>Ggc	p.R871G	KIF21B_ENST00000461742.2_Missense_Mutation_p.R871G|KIF21B_ENST00000332129.2_Missense_Mutation_p.R871G|KIF21B_ENST00000360529.5_Missense_Mutation_p.R871G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	871					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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCCACTGGCGCACGATGCTG	0.617																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(2611-2613)Cgc>Ggc		kinesin family member 21B							96	98	97					1																	200960121		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200960121G>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2611C>G	1.37:g.200960121G>C	ENSP00000411831:p.Arg871Gly					KIF21B_ENST00000422435.2_Missense_Mutation_p.R871G|KIF21B_ENST00000360529.5_Missense_Mutation_p.R871G|KIF21B_ENST00000461742.2_Missense_Mutation_p.R871G	p.R871G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			18	2927	-			871					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2611C>G	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164057	0.38217	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71934	-0.26;-0.58;-0.61;-0.33	4.65	4.65	0.58169	.	0.058169	0.64402	D	0.000002	D	0.82797	0.5115	M	0.71581	2.175	0.51012	D	0.999904	D;D;D;D	0.71674	0.993;0.997;0.997;0.998	D;D;D;D	0.80764	0.982;0.987;0.987;0.994	D	0.83479	0.0063	9	.	.	.	.	16.8837	0.86070	0.0:0.0:1.0:0.0	.	871;871;871;871	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	871	ENSP00000328494:R871G;ENSP00000353724:R871G;ENSP00000433808:R871G;ENSP00000411831:R871G	.	R	-	1	0	KIF21B	199226744	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.968000	0.63728	2.283000	0.76528	0.561000	0.74099	CGC		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		29	43	0	0	0	1	0	29	43					C	200960121	G	C	200960121	3	2	466	1	0	0	0	0	1	0	0	0	8289	1087	38	4	2331	4	KIF21B	1	200960121	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08	184700574	200960121	48290500	2	38545											
INTS7	25896	broad.mit.edu	37	chr1	212120037	212120037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgatggcattgcagaggCatgctgtgtgctgggggaaa	16	6	0	2			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:212120037C>T	ENST00000366994.3	-	18	2431	c.2327G>A	c.(2326-2328)tGc>tAc	p.C776Y	INTS7_ENST00000366993.3_Missense_Mutation_p.C762Y|INTS7_ENST00000440600.2_Missense_Mutation_p.C727Y|INTS7_ENST00000366992.3_Intron|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	776					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)		ATTGCAGAGGCATGCTGTGTG	0.358																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2326-2328)tGc>tAc		integrator complex subunit 7							60	62	62					1																	212120037		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212120037C>T	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.2327G>A	1.37:g.212120037C>T	ENSP00000355961:p.Cys776Tyr					INTS7_ENST00000366993.3_Missense_Mutation_p.C762Y|INTS7_ENST00000440600.2_Missense_Mutation_p.C727Y|INTS7_ENST00000366992.3_Intron|INTS7_ENST00000469606.1_5'UTR	p.C776Y	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	18	2431	-			776					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2327G>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658087	0.88154	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000440600	T;T;T	0.48836	0.84;0.8;0.84	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.80764	0.994;0.994;0.994	T	0.56353	-0.7993	10	0.02654	T	1	-23.5851	20.3081	0.98638	0.0:1.0:0.0:0.0	.	727;762;776	B4DLZ6;Q9NVH2-2;Q9NVH2	.;.;INT7_HUMAN	Y	776;762;727	ENSP00000355961:C776Y;ENSP00000355960:C762Y;ENSP00000388908:C727Y	ENSP00000355960:C762Y	C	-	2	0	INTS7	210186660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.201000	0.77847	2.795000	0.96236	0.655000	0.94253	TGC		0.358	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		33	48	0	0	0	1	0	33	48					T	212120037	C	T	212120037	3	4	466	1	0	0	0	0	1	0	0	0	7783	710	25	2	573	2	INTS7	1	212120037	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	11159916	212120037	37130584	3	38546											
H3F3A	3020	broad.mit.edu	37	chr1	226252135	226252135	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctacaaaagccgctcgcaAgagtgcgccctctactggag	12	13	1	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:226252135A>T	ENST00000366813.1	+	1	458	c.83A>T	c.(82-84)aAg>aTg	p.K28M	H3F3A_ENST00000366814.3_Missense_Mutation_p.K28M|RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366816.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366815.3_Missense_Mutation_p.K28M			P84243	H33_HUMAN	H3 histone, family 3A	28					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)	p.K28M(79)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GCCGCTCGCAAGAGTGCGCCC	0.483			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3				Dom	yes		1	1q42.12	3020	Mis	"H3 histone, family 3A"			O			glioma		79	Substitution - Missense(79)	p.K28M(79)	central_nervous_system(79)	central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(82-84)aAg>aTg		H3 histone, family 3A							27	29	28					1																	226252135		2200	4298	6498	SO:0001583	missense	3020							g.chr1:226252135A>T	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.83A>T	1.37:g.226252135A>T	ENSP00000355778:p.Lys28Met		OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366813.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366816.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366815.3_Missense_Mutation_p.K28M	p.K28M						GBM - Glioblastoma multiforme(131;0.203)	2	204	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.83A>T	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756773	0.49362	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.68201	0.2975	.	.	.	0.58432	D	0.999999	D;P	0.89917	1.0;0.899	D;P	0.83275	0.996;0.449	T	0.73490	-0.3966	9	0.87932	D	0	.	13.4389	0.61101	1.0:0.0:0.0:0.0	.	28;28	B4DEB1;P84243	.;H33_HUMAN	M	28	ENSP00000355781:K28M;ENSP00000355780:K28M;ENSP00000355779:K28M;ENSP00000355778:K28M	ENSP00000355778:K28M	K	+	2	0	H3F3A	224318758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.093000	0.94163	1.712000	0.51347	0.533000	0.62120	AAG		0.483	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		19	22	0	0	0	1	0	19	22					T	226252135	A	T	226252135	3	4	466	1	0	0	0	0	1	0	0	0	6933	72	3	5	85	5	H3F3A	1	226252135	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	14132098	226252135	22998486	4	38547											
OR11L1	391189	broad.mit.edu	37	chr1	248004826	248004826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagtgggctgcagatggCcaggtaacggtcataggcca	17	9	1	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:248004826C>T	ENST00000355784.2	-	1	428	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	125						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCAGATGGCCAGGTAACGG	0.592																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(373-375)Gcc>Acc		olfactory receptor, family 11, subfamily L, member 1							46	42	43					1																	248004826		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004826C>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.373G>A	1.37:g.248004826C>T	ENSP00000348033:p.Ala125Thr						p.A125T	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	428	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		125						Missense_Mutation	SNP	ENST00000355784.2	37	c.373G>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648372	0.67358	.	.	ENSG00000197591	ENST00000355784	T	0.00912	5.55	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002690	T	0.08935	0.0221	M	0.93550	3.43	0.47094	D	0.999314	D	0.76494	0.999	D	0.79784	0.993	T	0.01940	-1.1243	10	0.87932	D	0	.	17.1903	0.86877	0.0:1.0:0.0:0.0	.	125	Q8NGX0	O11L1_HUMAN	T	125	ENSP00000348033:A125T	ENSP00000348033:A125T	A	-	1	0	OR11L1	246071449	0.998000	0.40836	1.000000	0.80357	0.067000	0.16453	3.877000	0.56123	2.450000	0.82876	0.543000	0.68304	GCC		0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		3	29	0	0	0	1	0	3	29					T	248004826	C	T	248004826	3	4	466	1	0	0	0	0	1	0	0	0	10930	739	26	2	599	2	OR11L1	1	248004826	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	21752691	248004826	1245795	5	38548											
PTPN4	5775	broad.mit.edu	37	chr2	120690023	120690023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaagtaagcccttggcacGgaaattaatggattgggaag	12	8	0	0	rs532212706	byFrequency	TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr2:120690023G>A	ENST00000263708.2	+	14	1865	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	365					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCCTTGGCACGGAAATTAATG	0.353													G|||	5	0.000998403	0.0	0.0	5008	,	,		16955	0.0		0.0	False		,,,				2504	0.0051					ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1093-1095)cGg>cAg		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						59	55	56					2																	120690023		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120690023G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1094G>A	2.37:g.120690023G>A	ENSP00000263708:p.Arg365Gln					PTPN4_ENST00000544261.1_5'UTR	p.R365Q	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			14	1865	+			365					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1094G>A	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429199	0.83776	.	.	ENSG00000088179	ENST00000263708	T	0.72942	-0.7	5.1	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.84192	0.5418	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.86202	0.1619	10	0.54805	T	0.06	.	16.0218	0.80503	0.0:0.1345:0.8655:0.0	.	365	P29074	PTN4_HUMAN	Q	365	ENSP00000263708:R365Q	ENSP00000263708:R365Q	R	+	2	0	PTPN4	120406493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.675000	0.61619	1.267000	0.44247	0.563000	0.77884	CGG		0.353	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			17	20	0	0	0	1	0	17	20					A	120690023	G	A	120690023	3	1	466	1	0	0	0	0	1	0	0	0	12790	1116	39	1	1144	1	PTPN4	2	120690023	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		120690023	122509350	6	38549											
PFKFB4	5210	broad.mit.edu	37	chr3	48594202	48594202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtcaattcccgtggGgacgccatcccggggccggg	15	13	2	0			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr3:48594202G>A	ENST00000232375.3	-	1	121	c.9C>T	c.(7-9)tcC>tcT	p.S3S	PFKFB4_ENST00000541519.1_5'UTR|PFKFB4_ENST00000545984.1_Silent_p.S3S|PFKFB4_ENST00000383734.2_Silent_p.S3S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Intron|PFKFB4_ENST00000416568.1_Silent_p.S3S	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	3	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCCCGTGGGGACGCCATCC	0.706																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(7-9)tcC>tcT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							43	42	42					3																	48594202		2203	4300	6503	SO:0001819	synonymous_variant	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48594202G>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.9C>T	3.37:g.48594202G>A						PFKFB4_ENST00000545984.1_Silent_p.S3S|PFKFB4_ENST00000541519.1_5'UTR|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Intron|PFKFB4_ENST00000416568.1_Silent_p.S3S|PFKFB4_ENST00000383734.2_Silent_p.S3S	p.S3S	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	1	121	-			3			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Silent	SNP	ENST00000232375.3	37	c.9C>T	CCDS2771.1																																																																																				0.706	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		12	39	0	0	0	1	0	12	39					A	48594202	G	A	48594202	2	1	466	1	0	0	0	0	0	0	0	1	11763	1219	43	2		2	PFKFB4	3	48594202	Silent	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		48594202	149428228	7	38550											
WDFY3	23001	broad.mit.edu	37	chr4	85658466	85658466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctaagacttgtttcttacTatgtatcagttcagtccaaa	5	9	4	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr4:85658466T>C	ENST00000295888.4	-	41	7035	c.6628A>G	c.(6628-6630)Agt>Ggt	p.S2210G	WDFY3_ENST00000322366.6_Missense_Mutation_p.S2210G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2210					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTTCTTACTATGTATCAGT	0.393																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(6628-6630)Agt>Ggt		WD repeat and FYVE domain containing 3							105	101	102					4																	85658466		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85658466T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6628A>G	4.37:g.85658466T>C	ENSP00000295888:p.Ser2210Gly					WDFY3_ENST00000295888.4_Missense_Mutation_p.S2210G	p.S2210G			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	41	7035	-		Hepatocellular(203;0.114)	2210					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6628A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355579	0.61293	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64803	-0.12;-0.11	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.54323	1.7	0.80722	D	1	P	0.44478	0.836	B	0.38616	0.277	T	0.55477	-0.8135	10	0.22109	T	0.4	.	14.9515	0.71077	0.0:0.0:0.0:1.0	.	2210	Q8IZQ1	WDFY3_HUMAN	G	2210	ENSP00000318466:S2210G;ENSP00000295888:S2210G	ENSP00000295888:S2210G	S	-	1	0	WDFY3	85877490	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.673000	0.83973	1.938000	0.56188	0.460000	0.39030	AGT		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		31	45	0	0	0	1	0	31	45					C	85658466	T	C	85658466	3	2	466	1	0	0	0	0	1	0	0	0	17267	1522	53	3	4064	3	WDFY3	4	85658466	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		85658466	105495810	8	38551											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581188	178581188	+	Frame_Shift_Del	DEL	C	C	-													cctgcccgtcgtgctccatgCccagcctgcgagggccgagg							TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr5:178581188delC	ENST00000251582.7	-	8	1345	c.1244delG	c.(1243-1245)ggcfs	p.G415fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G415fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	415	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		GTGCTCCATGCCCAGCCTGCG	0.697																																						ENST00000251582.7																			0				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						c.(1243-1245)gcfs		ADAM metallopeptidase with thrombospondin type 1 motif, 2							11	11	11					5																	178581188		2186	4255	6441	SO:0001589	frameshift_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581188delC	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.1244delG	5.37:g.178581188delC	ENSP00000251582:p.Gly415fs					ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G415fs	p.G415fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	8	1345	-	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)	415			Peptidase M12B.			Frame_Shift_Del	DEL	ENST00000251582.7	37	c.1244delG	CCDS4444.1																																																																																				0.697	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		2	4						2	4	---	---	---	---	-	178581188	C	-	178581188	7	5	466	1	0	1	0	1	0	0	0	0	265	739	26	0	2526	0	ADAMTS2	5	178581188	Frame_Shift_Del	DEL	C	TCGA-TM-A84C-01A-11D-A36O-08		178581188	2334072	9	38552											
ATXN1	6310	broad.mit.edu	37	chr6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgatgctg	14	12	0	1	rs201040133	byFrequency	TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				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)				gctgctgctgctgctgctgct	0.662													-|||	41	0.0081869	0.0091	0.0014	5008	,	,		12664	0.0109		0.005	False		,,,				2504	0.0123					ENST00000244769.4																			0				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						c.(646-648)caG>caT		ataxin 1							4	8	7					6																	16327894		1839	3762	5601	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327894C>A	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.648G>T	6.37:g.16327894C>A	ENSP00000244769:p.Gln216His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1584	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	216			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.648G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	-	5.041	0.193181	0.09599	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.59906	0.23;0.23	.	.	.	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.17979	0.02	T	0.14364	-1.0475	7	0.66056	D	0.02	.	.	.	.	.	216	P54253	ATX1_HUMAN	H	216	ENSP00000244769:Q216H;ENSP00000416360:Q216H	ENSP00000244769:Q216H	Q	-	3	2	ATXN1	16435873	0.005000	0.15991	0.008000	0.14137	0.119000	0.20118	-0.699000	0.05087	0.119000	0.18210	0.121000	0.15741	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	12	1	0	0.00909568	1	0.00934834	3	12					A	16327894	C	A	16327894	3	1	466	1	0	0	0	0	1	0	0	0	1209	796	28	4	1807	4	ATXN1	6	16327894	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		16327894	154787173	10	38553											
SYNE1	23345	broad.mit.edu	37	chr6	152501297	152501297	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gagcttctctatcatttcttCaatgagaatgtctccattct	5	10	6	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:152501297C>G	ENST00000367255.5	-	129	24035	c.23434G>C	c.(23434-23436)Gaa>Caa	p.E7812Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2336Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7424Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7812Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000347037.5_5'Flank	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7812					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)		ATCATTTCTTCAATGAGAATG	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				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						c.(23434-23436)Gaa>Caa		spectrin repeat containing, nuclear envelope 1							192	182	186					6																	152501297		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152501297C>G	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.23434G>C	6.37:g.152501297C>G	ENSP00000356224:p.Glu7812Gln	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7424Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7812Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2336Q	p.E7812Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	129	24035	-		Ovarian(120;0.0955)	7812					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23434G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021432	0.75275	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.21	4.33	0.51752	.	0.000000	0.64402	D	0.000007	T	0.80999	0.4732	M	0.69823	2.125	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.997;0.997;0.995;0.997;0.984	T	0.82311	-0.0520	10	0.46703	T	0.11	.	15.2995	0.73936	0.1408:0.8592:0.0:0.0	.	7812;7812;7741;7741;14	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Q	7812;458;7741;7812;7741;7424;2336;734	ENSP00000356224:E7812Q;ENSP00000356226:E458Q;ENSP00000396024:E7741Q;ENSP00000265368:E7812Q;ENSP00000390975:E7741Q;ENSP00000341887:E7424Q;ENSP00000349276:E2336Q;ENSP00000356220:E734Q	ENSP00000265368:E7812Q	E	-	1	0	SYNE1	152542990	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	7.681000	0.84073	1.174000	0.42811	0.655000	0.94253	GAA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	48	0	0	0	1	0	29	48					G	152501297	C	G	152501297	3	3	466	1	0	0	0	0	1	0	0	0	15442	835	29	4	3104	4	SYNE1	6	152501297	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	136173403	152501297	18613770	11	38554											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	259	0	0	0	1	0	5	259					G	72398976	A	G	72398976	3	3	466	1	0	0	0	0	1	0	0	0	12239	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08		72398976	86739687	12	38555											
MTBP	27085	broad.mit.edu	37	chr8	121468835	121468835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctttctgctaatgttgtAtctttagaagatctcagaaa	6	7	3	3			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr8:121468835A>G	ENST00000305949.1	+	7	717	c.672A>G	c.(670-672)gtA>gtG	p.V224V		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	224					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATGTTGTATCTTTAGAAG	0.308																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(670-672)gtA>gtG		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							88	102	97					8																	121468835		2203	4291	6494	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121468835A>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.672A>G	8.37:g.121468835A>G							p.V224V	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		7	717	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		224					B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.672A>G	CCDS6333.1																																																																																				0.308	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		83	91	0	0	0	1	0	83	91					G	121468835	A	G	121468835	2	3	466	1	0	0	0	0	0	0	0	1	9912	436	16	3		3	MTBP	8	121468835	Silent	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08		121468835	24895187	13	38556											
PSAT1	29968	broad.mit.edu	37	chr9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctacgtgtattattgcGcaaatgagacggtgcatggt	11	9	0	1	rs199619145		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GTATTATTGCGCAAATGAGAC	0.463																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			1	Substitution - Missense(1)	p.A153T(1)	urinary_tract(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(457-459)Gca>Aca		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						334	308	317					9																	80921289		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921289G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.457G>A	9.37:g.80921289G>A	ENSP00000365773:p.Ala153Thr					PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			5	525	+			153					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.457G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551918	0.27739	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.62941	-0.01;-0.01	5.85	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.261328	0.43747	D	0.000534	T	0.37598	0.1009	N	0.12746	0.255	0.48236	D	0.999615	P;B	0.37864	0.61;0.076	B;B	0.28139	0.086;0.034	T	0.16305	-1.0407	10	0.27785	T	0.31	-6.2508	11.7802	0.52010	0.0661:0.1237:0.8102:0.0	.	153;153	Q9Y617-2;Q9Y617	.;SERC_HUMAN	T	153	ENSP00000317606:A153T;ENSP00000365773:A153T	ENSP00000317606:A153T	A	+	1	0	PSAT1	80111109	1.000000	0.71417	0.699000	0.30290	0.814000	0.46013	5.862000	0.69560	0.820000	0.34516	0.655000	0.94253	GCA		0.463	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		5	448	0	0	0	1	0	5	448					A	80921289	G	A	80921289	3	1	466	1	0	0	0	0	1	0	0	0	12644	1087	38	1	475	1	PSAT1	9	80921289	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		80921289	60292142	14	38557											
SIRT3	23410	broad.mit.edu	37	chr11	219035	219035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtcaagctggcaaaagGctccacctgaaaaatgggcc	11	12	1	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:219035G>C	ENST00000382743.4	-	6	1078	c.976C>G	c.(976-978)Cct>Gct	p.P326A	SIRT3_ENST00000525319.1_Missense_Mutation_p.P245A|SIRT3_ENST00000524564.1_Missense_Mutation_p.P262A|SIRT3_ENST00000529382.1_Missense_Mutation_p.P184A|SIRT3_ENST00000532956.1_Missense_Mutation_p.P272A	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	326	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTGGCAAAAGGCTCCACCTGA	0.602																																						ENST00000382743.4																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(976-978)Cct>Gct		sirtuin 3							36	34	35					11																	219035		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:219035G>C	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.976C>G	11.37:g.219035G>C	ENSP00000372191:p.Pro326Ala					SIRT3_ENST00000529382.1_Missense_Mutation_p.P184A|SIRT3_ENST00000525319.1_Missense_Mutation_p.P245A|SIRT3_ENST00000524564.1_Missense_Mutation_p.P262A|SIRT3_ENST00000532956.1_Missense_Mutation_p.P272A	p.P326A	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	6	1078	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	326			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.976C>G	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205757	0.79127	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.56776	0.44;0.44;0.44;1.91;0.44	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	H	0.99507	4.6	0.58432	D	0.999999	D;B;D;D;B	0.89917	1.0;0.243;1.0;0.999;0.37	D;B;D;D;B	0.97110	1.0;0.113;0.996;0.999;0.068	D	0.91900	0.5531	10	0.87932	D	0	-16.968	17.833	0.88688	0.0:0.0:1.0:0.0	.	272;326;245;262;326	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	A	326;245;262;272;184	ENSP00000372191:P326A;ENSP00000435464:P245A;ENSP00000432937:P262A;ENSP00000433077:P272A;ENSP00000437216:P184A	ENSP00000372191:P326A	P	-	1	0	SIRT3	209035	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.805000	0.99149	2.543000	0.85770	0.555000	0.69702	CCT		0.602	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			4	14	0	0	0	1	0	4	14					C	219035	G	C	219035	3	2	466	1	0	0	0	0	1	0	0	0	14339	1203	42	4	231	4	SIRT3	11	219035	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		219035	134787481	15	38558											
PTPRJ	5795	broad.mit.edu	37	chr11	48134355	48134355	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacaggggaaaatggcAtaacgcagatcagcagtaca	11	9	1	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:48134355A>G	ENST00000418331.2	+	3	524	c.172A>G	c.(172-174)Ata>Gta	p.I58V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.I58V|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	58					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						GGAAAATGGCATAACGCAGAT	0.428																																						ENST00000418331.2																			0				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						c.(172-174)Ata>Gta		protein tyrosine phosphatase, receptor type, J							98	93	95					11																	48134355		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48134355A>G	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.172A>G	11.37:g.48134355A>G	ENSP00000400010:p.Ile58Val					PTPRJ_ENST00000440289.2_Missense_Mutation_p.I58V|PTPRJ_ENST00000526550.1_3'UTR	p.I58V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			3	524	+			58					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.172A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.410017	0.00193	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.36878	2.57;1.23	1.28	-2.55	0.06288	.	.	.	.	.	T	0.11110	0.0271	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	0.26395	-1.0104	9	0.05436	T	0.98	.	0.1058	0.00052	0.2369:0.1931:0.2561:0.3139	.	58;58	Q12913;Q6P4H4	PTPRJ_HUMAN;.	V	58	ENSP00000400010:I58V;ENSP00000409733:I58V	ENSP00000278456:I58V	I	+	1	0	PTPRJ	48090931	0.089000	0.21612	0.001000	0.08648	0.007000	0.05969	0.082000	0.14847	-1.322000	0.02278	-1.216000	0.01612	ATA		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			38	48	0	0	0	1	0	38	48					G	48134355	A	G	48134355	3	3	466	1	0	0	0	0	1	0	0	0	12804	217	8	3	182	3	PTPRJ	11	48134355	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	47915320	48134355	86872161	16	38559											
SLC22A10	387775	broad.mit.edu	37	chr11	63070001	63070001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttccattttggccaacaCgtttgtgcccaaaggtgaga	9	11	0	1	rs375615317		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:63070001C>T	ENST00000332793.6	+	7	1273	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	424						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TTGGCCAACACGTTTGTGCCC	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20554	0.0		0.0	False		,,,				2504	0.0					ENST00000332793.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1270-1272)aCg>aTg		solute carrier family 22, member 10		C	MET/THR	0,3774		0,0,1887	117	104	108		1271	-1.5	0	11		108	3,8217		0,3,4107	no	missense	SLC22A10	NM_001039752.3	81	0,3,5994	TT,TC,CC		0.0365,0.0,0.025	possibly-damaging	424/542	63070001	3,11991	1887	4110	5997	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63070001C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1271C>T	11.37:g.63070001C>T	ENSP00000327569:p.Thr424Met					SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	p.T424M	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN			7	1273	+			424					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1271C>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	6.882	0.532082	0.13127	0.0	3.65E-4	ENSG00000184999	ENST00000332793	T	0.59083	0.29	3.62	-1.45	0.08828	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.601467	0.15348	N	0.267112	T	0.30634	0.0771	N	0.19112	0.55	0.09310	N	1	P	0.43231	0.801	B	0.36378	0.223	T	0.21348	-1.0248	9	.	.	.	.	4.5441	0.12073	0.0:0.4311:0.3459:0.223	.	424	Q63ZE4	S22AA_HUMAN	M	424	ENSP00000327569:T424M	.	T	+	2	0	SLC22A10	62826577	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.600000	0.05693	-0.090000	0.12462	0.579000	0.79373	ACG		0.433	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		33	54	0	0	0	1	0	33	54					T	63070001	C	T	63070001	3	4	466	1	0	0	0	0	1	0	0	0	14441	536	19	1	1297	1	SLC22A10	11	63070001	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	14935646	63070001	71936515	17	38560											
TYRO3	7301	broad.mit.edu	37	chr15	41865222	41865222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacccctccagaccctgaTccggttcatggtggacattg	9	15	1	2			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr15:41865222T>G	ENST00000263798.3	+	16	2122	c.1898T>G	c.(1897-1899)aTc>aGc	p.I633S	TYRO3_ENST00000559066.1_Missense_Mutation_p.I588S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	633	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CAGACCCTGATCCGGTTCATG	0.592																																						ENST00000263798.3																			0				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						c.(1897-1899)aTc>aGc		TYRO3 protein tyrosine kinase							74	64	67					15																	41865222		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865222T>G	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.1898T>G	15.37:g.41865222T>G	ENSP00000263798:p.Ile633Ser					TYRO3_ENST00000559066.1_Missense_Mutation_p.I588S	p.I633S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	16	2122	+		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)	633			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1898T>G	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575862	0.65878	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.83335	-1.71	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.293550	0.05656	N	0.585957	D	0.86343	0.5910	L	0.60067	1.865	0.36497	D	0.868808	B	0.28971	0.229	B	0.37198	0.243	T	0.74728	-0.3567	10	0.87932	D	0	-2.1716	16.1383	0.81506	0.0:0.0:0.0:1.0	.	633	Q06418	TYRO3_HUMAN	S	565;633	ENSP00000263798:I633S	ENSP00000263798:I633S	I	+	2	0	TYRO3	39652514	0.999000	0.42202	0.984000	0.44739	0.996000	0.88848	6.305000	0.72805	2.219000	0.72066	0.533000	0.62120	ATC		0.592	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			24	61	0	0	0	1	0	24	61					G	41865222	T	G	41865222	3	3	466	1	0	0	0	0	1	0	0	0	16811	1435	50	5	1960	5	TYRO3	15	41865222	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		41865222	60666170	18	38561											
ANKFY1	51479	broad.mit.edu	37	chr17	4088218	4088218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagctggtcagggatgCggcctcctttggcagaggca	15	12	1	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:4088218C>T	ENST00000341657.4	-	12	1629	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|CYB5D2_ENST00000573984.1_Intron|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000573722.1_5'UTR	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	532					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)	p.A532T(1)		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						GTCAGGGATGCGGCCTCCTTT	0.622																																						ENST00000341657.4																			1	Substitution - Missense(1)	p.A532T(1)	large_intestine(1)	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						c.(1594-1596)Gca>Aca		ankyrin repeat and FYVE domain containing 1							78	87	84					17																	4088218		2176	4268	6444	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4088218C>T	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.1594G>A	17.37:g.4088218C>T	ENSP00000343362:p.Ala532Thr					ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	p.A532T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			12	1629	-			532					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1594G>A		.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528246	0.04112	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.49139	0.79	5.12	-1.28	0.09318	Ankyrin repeat-containing domain (2);	0.723299	0.14266	N	0.330497	T	0.31670	0.0804	L	0.54908	1.71	0.19945	N	0.999944	B;B;B;B	0.15141	0.001;0.012;0.001;0.0	B;B;B;B	0.14023	0.01;0.004;0.001;0.0	T	0.24621	-1.0155	10	0.14252	T	0.57	3.0E-4	2.0699	0.03611	0.1066:0.2435:0.3195:0.3305	.	473;532;532;574	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	532;473	ENSP00000343362:A532T	ENSP00000343362:A532T	A	-	1	0	ANKFY1	4034967	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.156000	0.10100	-0.360000	0.08138	0.655000	0.94253	GCA		0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		3	61	0	0	0	1	0	3	61					T	4088218	C	T	4088218	3	4	466	1	0	0	0	0	1	0	0	0	626	768	27	1	1974	1	ANKFY1	17	4088218	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		4088218	77106992	19	38562											
NF1	4763	broad.mit.edu	37	chr17	29508796	29508797	+	Frame_Shift_Ins	INS	-	-	A													accagatcccacagactgatINSatggctggtaaggatacgat							TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29508796_29508797insA	ENST00000358273.4	+	7	1106_1107	c.723_724insA	c.(724-726)atgfs	p.M242fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.M242fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.M242fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	242					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.?(4)	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)		CACAGACTGATATGGCTGGTAA	0.317			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(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	GRCh37	CI000104	NF1	I		c.(721-726)gatggcfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508796_29508797insA		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.724dupA	17.37:g.29508797_29508797dupA	ENSP00000351015:p.Met242fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.DG241fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.DG241fs	p.DG241fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	7	1106_1107	+		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)	241					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.723_724insA	CCDS42292.1																																																																																				0.317	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	70						20	70	---	---	---	---	A	29508797	-	A	29508796	7	5	466	1	0	1	1	0	0	0	0	0	10356	1403	49	0	749	0	NF1	17	29508796	Frame_Shift_Ins	INS	-	TCGA-TM-A84C-01A-11D-A36O-08	25420578	29508796	51686414	20	38563											
NF1	4763	broad.mit.edu	37	chr17	29665157	29665157	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatccgtattcttagcaaGgtacctgttccgccctcact	6	13	2	0			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29665157G>A	ENST00000358273.4	+	45	7202	c.6819G>A	c.(6817-6819)aaG>aaA	p.K2273K	NF1_ENST00000444181.2_Splice_Site_p.K66K|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Splice_Site_p.K2252K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2273					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.?(3)	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)		TTCTTAGCAAGGTACCTGTTC	0.388			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.e45+1		neurofibromin 1							125	117	119					17																	29665157		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665157G>A		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.6819+1G>A	17.37:g.29665157G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Splice_Site_p.K66_splice|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Splice_Site_p.K2252_splice	p.K2273_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	45	7202	+		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)	2273					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.6819_splice	CCDS42292.1																																																																																				0.388	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Silent	51	70	0	0	0	1	0	51	70					A	29665157	G	A	29665157	5	1	466	1	0	0	0	0	0	0	1	0	10356	1014	35	2	7058	2	NF1	17	29665157	Splice_Site	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08	156361	29665157	51530053	21	38564											
PPM1D	8493	broad.mit.edu	37	chr17	58734108	58734108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaactttaccaatgaagAtgagttatacctgaacctga	9	7	0	5			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:58734108A>G	ENST00000305921.3	+	5	1398	c.1166A>G	c.(1165-1167)gAt>gGt	p.D389G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	389					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCAATGAAGATGAGTTATAC	0.468																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1165-1167)gAt>gGt		protein phosphatase, Mg2+/Mn2+ dependent, 1D							134	123	127					17																	58734108		2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58734108A>G	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1166A>G	17.37:g.58734108A>G	ENSP00000306682:p.Asp389Gly						p.D389G	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1398	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		389					Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.1166A>G	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151767	0.78001	.	.	ENSG00000170836	ENST00000305921;ENST00000544712;ENST00000392995	T;T	0.52526	0.66;0.72	5.88	5.88	0.94601	.	0.218479	0.47852	D	0.000207	T	0.37433	0.1003	N	0.24115	0.695	0.58432	D	0.999991	D	0.53151	0.958	B	0.42692	0.395	T	0.22730	-1.0208	10	0.42905	T	0.14	-21.2357	14.9154	0.70792	1.0:0.0:0.0:0.0	.	389	O15297	PPM1D_HUMAN	G	389;237;389	ENSP00000306682:D389G;ENSP00000376720:D389G	ENSP00000306682:D389G	D	+	2	0	PPM1D	56088890	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.302000	0.78861	2.256000	0.74724	0.524000	0.50904	GAT		0.468	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		30	60	0	0	0	1	0	30	60					G	58734108	A	G	58734108	3	3	466	1	0	0	0	0	1	0	0	0	12337	333	12	3	1184	3	PPM1D	17	58734108	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	29068951	58734108	22461102	22	38565											
EMR2	30817	broad.mit.edu	37	chr19	14854471	14854471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagatgaagacacccTgcaggctgttgatgatggtg	14	8	0	5			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:14854471T>C	ENST00000315576.3	-	19	2760	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	EMR2_ENST00000353876.1_Missense_Mutation_p.Q677R|EMR2_ENST00000392965.3_Missense_Mutation_p.Q712R|EMR2_ENST00000346057.1_Missense_Mutation_p.Q721R|EMR2_ENST00000594076.1_Missense_Mutation_p.Q677R|EMR2_ENST00000353005.1_Missense_Mutation_p.Q628R|EMR2_ENST00000595839.1_Missense_Mutation_p.Q628R|EMR2_ENST00000596991.2_Missense_Mutation_p.Q759R|EMR2_ENST00000594294.1_Missense_Mutation_p.Q721R|EMR2_ENST00000601345.1_Missense_Mutation_p.Q759R|EMR2_ENST00000392967.2_Missense_Mutation_p.Q759R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	770					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						GAAGACACCCTGCAGGCTGTT	0.607																																						ENST00000315576.3																			0				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						c.(2308-2310)cAg>cGg		egf-like module containing, mucin-like, hormone receptor-like 2							171	151	158					19																	14854471		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14854471T>C	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.2309A>G	19.37:g.14854471T>C	ENSP00000319883:p.Gln770Arg					EMR2_ENST00000353005.1_Missense_Mutation_p.Q628R|EMR2_ENST00000595839.1_Missense_Mutation_p.Q628R|EMR2_ENST00000392965.3_Missense_Mutation_p.Q712R|EMR2_ENST00000601345.1_Missense_Mutation_p.Q759R|EMR2_ENST00000596991.2_Missense_Mutation_p.Q759R|EMR2_ENST00000594294.1_Missense_Mutation_p.Q721R|EMR2_ENST00000353876.1_Missense_Mutation_p.Q677R|EMR2_ENST00000594076.1_Missense_Mutation_p.Q677R|EMR2_ENST00000346057.1_Missense_Mutation_p.Q721R|EMR2_ENST00000392967.2_Missense_Mutation_p.Q759R	p.Q770R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			19	2760	-			770					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.2309A>G	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816829	0.70912	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.21	4.19	0.49359	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	.	.	.	.	D	0.83963	0.5368	H	0.98833	4.345	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.997;0.996;0.998;0.999;0.999;0.997	D	0.86430	0.1760	9	0.87932	D	0	.	9.749	0.40464	0.1546:0.0:0.0:0.8454	.	712;677;770;628;721;770;770;759	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	R	770;759;721;677;628;712	ENSP00000319883:Q770R;ENSP00000376694:Q759R;ENSP00000263380:Q721R;ENSP00000319454:Q677R;ENSP00000319838:Q628R;ENSP00000376692:Q712R	ENSP00000319883:Q770R	Q	-	2	0	EMR2	14715471	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	4.347000	0.59373	0.815000	0.34398	0.491000	0.48974	CAG		0.607	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			8	134	0	0	0	1	0	8	134					C	14854471	T	C	14854471	3	2	466	1	0	0	0	0	1	0	0	0	5105	1580	55	3	174	3	EMR2	19	14854471	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		14854471	44274512	23	38566											
ZNF606	80095	broad.mit.edu	37	chr19	58491114	58491114	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagagtttttctcctgTgtgaattcctttatgatcac	6	8	3	3			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:58491114T>A	ENST00000341164.4	-	7	1554	c.934A>T	c.(934-936)Aca>Tca	p.T312S	ZNF606_ENST00000536132.1_Missense_Mutation_p.T222S	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	312					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)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTCTCCTGTGTGAATTCCT	0.343																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(934-936)Aca>Tca		zinc finger protein 606							90	93	92					19																	58491114		2203	4299	6502	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491114T>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.934A>T	19.37:g.58491114T>A	ENSP00000343617:p.Thr312Ser					ZNF606_ENST00000536132.1_Missense_Mutation_p.T222S	p.T312S	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1554	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	312					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.934A>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977765	0.34848	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.18016	2.24;2.24;2.24	4.29	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.167481	0.28641	N	0.014640	T	0.29945	0.0749	L	0.61387	1.9	0.26616	N	0.972745	D	0.58268	0.982	P	0.53760	0.734	T	0.07462	-1.0771	10	0.59425	D	0.04	.	13.3681	0.60696	0.0:0.0:0.0:1.0	.	312	Q8WXB4	ZN606_HUMAN	S	312;222;312	ENSP00000343617:T312S;ENSP00000445624:T222S;ENSP00000446972:T312S	ENSP00000343617:T312S	T	-	1	0	ZNF606	63182926	0.749000	0.28305	0.974000	0.42286	0.990000	0.78478	0.919000	0.28692	2.161000	0.67846	0.533000	0.62120	ACA		0.343	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		33	48	0	0	0	1	0	33	48					A	58491114	T	A	58491114	3	1	466	1	0	0	0	0	1	0	0	0	18029	1696	59	5	1448	5	ZNF606	19	58491114	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08	43636643	58491114	637869	24	38567											
JAG1	182	broad.mit.edu	37	chr20	10622217	10622217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggagactggaagaccgaCactcgcccacaccagtgcag	12	14	0	2			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr20:10622217C>T	ENST00000254958.5	-	23	3322	c.2807G>A	c.(2806-2808)tGt>tAt	p.C936Y	JAG1_ENST00000423891.2_Missense_Mutation_p.C777Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	936					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACCGACACTCGCCCAC	0.567									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2806-2808)tGt>tAt		jagged 1							87	86	86					20																	10622217		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10622217C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2807G>A	20.37:g.10622217C>T	ENSP00000254958:p.Cys936Tyr					JAG1_ENST00000423891.2_Missense_Mutation_p.C777Y	p.C936Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			23	3322	-			936					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.2807G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872171	0.91587	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.95853	-3.83;-3.74	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99293	1.0899	10	0.87932	D	0	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	936	P78504	JAG1_HUMAN	Y	936;777	ENSP00000254958:C936Y;ENSP00000389519:C777Y	ENSP00000254958:C936Y	C	-	2	0	JAG1	10570217	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	TGT		0.567	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		83	108	0	0	0	1	0	83	108					T	10622217	C	T	10622217	3	4	466	1	0	0	0	0	1	0	0	0	7934	478	17	2	865	2	JAG1	20	10622217	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		10622217	52403303	25	38568											
UBR4	23352	broad.mit.edu	37	chr1	19468015	19468015	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtctccaggaccatcgactCagactgcagagagaaagctc	10	12	2	3			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:19468015C>G	ENST00000375254.3	-	57	8341	c.8314G>C	c.(8314-8316)Gag>Cag	p.E2772Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2772Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2772					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)		ACCATCGACTCAGACTGCAGA	0.552																																						ENST00000375267.2																			0				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						c.(8314-8316)Gag>Cag		ubiquitin protein ligase E3 component n-recognin 4							63	67	66					1																	19468015		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19468015C>G	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.8314G>C	1.37:g.19468015C>G	ENSP00000364403:p.Glu2772Gln					UBR4_ENST00000375254.3_Missense_Mutation_p.E2772Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q	p.E2772Q			Q5T4S7	UBR4_HUMAN		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)	57	8317	-		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)	2772					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8314G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434383	0.62955	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.26067	1.78;1.78;1.76;1.8	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	L	0.29908	0.895	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.02942	-1.1091	10	0.33141	T	0.24	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	2772	Q5T4S7	UBR4_HUMAN	Q	2772;2772;2800;2783;415;1493	ENSP00000364403:E2772Q;ENSP00000364416:E2772Q;ENSP00000364365:E2800Q;ENSP00000364374:E2783Q	ENSP00000364365:E2800Q	E	-	1	0	UBR4	19340602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.837000	0.97791	0.591000	0.81541	GAG		0.552	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		11	45	0	0	0	1	0	11	45					G	19468015	C	G	19468015	3	3	467	1	0	0	0	0	1	0	0	0	16901	835	29	4	7437	4	UBR4	1	19468015	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		19468015	229782606	1	38569											
L1TD1	54596	broad.mit.edu	37	chr1	62676147	62676147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactagagatgagtcatgaTgagcataaaaagcattcaca	8	7	3	4			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:62676147T>C	ENST00000498273.1	+	4	1996	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	567										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGAGTCATGATGAGCATAAAA	0.423																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1699-1701)gaT>gaC		LINE-1 type transposase domain containing 1							80	78	79					1																	62676147		2203	4300	6503	SO:0001819	synonymous_variant	54596							g.chr1:62676147T>C	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1701T>C	1.37:g.62676147T>C							p.D567D	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	1996	+			567					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.1701T>C	CCDS619.1																																																																																				0.423	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		18	42	0	0	0	1	0	18	42					C	62676147	T	C	62676147	2	2	467	1	0	0	0	0	0	0	0	1	8589	1461	51	3		3	L1TD1	1	62676147	Silent	SNP	T	TCGA-TM-A84F-01A-11D-A36O-08	43208132	62676147	186574474	2	38570											
TTN	7273	broad.mit.edu	37	chr2	179438184	179438184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacttcagggtttttgggCggatcagggggtccataagg	16	7	3	0	rs374314698		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179438184C>T	ENST00000591111.1	-	276	67976	c.67752G>A	c.(67750-67752)ccG>ccA	p.P22584P	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.P24225P|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.P15285P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.P15160P			Q8WZ42	TITIN_HUMAN	titin	22584	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L. {ECO:0000269|PubMed:17344846}.		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)			GGTTTTTGGGCGGATCAGGGG	0.438																																						ENST00000589042.1																			0				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						c.(72673-72675)ccG>ccA		titin		C	,,,	0,3802		0,0,1901	96	96	96		45480,64971,45855,46056	2.1	1	2		96	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6022	TT,TC,CC		0.0121,0.0,0.0083	,,,	15160/26927,21657/33424,15285/27052,15352/27119	179438184	1,12045	1901	4122	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438184C>T	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.67752G>A	2.37:g.179438184C>T						TTN_ENST00000359218.5_Silent_p.P15285P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P22584P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.P15160P|TTN-AS1_ENST00000456053.1_RNA	p.P24225P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72899	-			22584			Ig-like 121.		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	ENST00000591111.1	37	c.72675G>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	65	0	0	0	1	0	37	65					T	179438184	C	T	179438184	2	4	467	1	0	0	0	0	0	0	0	1	16732	755	27	1		1	TTN	2	179438184	Silent	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		179438184	63761189	3	38571											
TTN	7273	broad.mit.edu	37	chr2	179595438	179595438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggatgtgacccagccactAtacattctaaatcaatgaaa	7	9	2	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179595438A>G	ENST00000591111.1	-	59	17095	c.16871T>C	c.(16870-16872)aTa>aCa	p.I5624T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I5941T|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12435	Ig-like 37.				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)			CCCAGCCACTATACATTCTAA	0.358																																						ENST00000589042.1																			0				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						c.(17821-17823)aTa>aCa		titin							64	67	66					2																	179595438		1851	4101	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595438A>G	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.16871T>C	2.37:g.179595438A>G	ENSP00000465570:p.Ile5624Thr					TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I5624T|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.I5941T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	18046	-			5624			Ig-like 40.		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	ENST00000591111.1	37	c.17822T>C		.	.	.	.	.	.	.	.	.	.	A	9.662	1.144424	0.21288	.	.	ENSG00000155657	ENST00000342992	T	0.63580	-0.05	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58552	0.2130	N	0.20357	0.565	0.80722	D	1	D	0.53312	0.959	P	0.50049	0.629	T	0.64922	-0.6293	9	0.87932	D	0	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	5624	Q8WZ42	TITIN_HUMAN	T	4697	ENSP00000343764:I4697T	ENSP00000343764:I4697T	I	-	2	0	TTN	179303683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.327000	0.79147	2.237000	0.73441	0.460000	0.39030	ATA		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	78	0	0	0	1	0	4	78					G	179595438	A	G	179595438	3	3	467	1	0	0	0	0	1	0	0	0	16732	449	16	3	86915	3	TTN	2	179595438	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08	157254	179595438	63603935	4	38572											
CWC22	57703	broad.mit.edu	37	chr2	180835797	180835797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctctaagcataatacttCgtgtgccttaaataaaatac	4	9	1	0			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:180835797C>T	ENST00000410053.3	-	9	1110	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	271	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.E271K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CATAATACTTCGTGTGCCTTA	0.299																																						ENST00000410053.3																			1	Substitution - Missense(1)	p.E271K(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(811-813)Gaa>Aaa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							70	62	65					2																	180835797		1839	4095	5934	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180835797C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.811G>A	2.37:g.180835797C>T	ENSP00000387006:p.Glu271Lys					CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			9	1110	-			271			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.811G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937982	0.92526	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.25749	1.78;1.78;1.78	5.91	5.91	0.95273	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76022	-0.3111	10	0.87932	D	0	-27.2497	19.2867	0.94077	0.0:1.0:0.0:0.0	.	271	Q9HCG8	CWC22_HUMAN	K	271	ENSP00000387006:E271K;ENSP00000295749:E271K;ENSP00000384159:E271K	ENSP00000295749:E271K	E	-	1	0	CWC22	180544042	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.610000	0.82949	2.793000	0.96121	0.655000	0.94253	GAA		0.299	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		4	12	0	0	0	1	0	4	12					T	180835797	C	T	180835797	3	4	467	1	0	0	0	0	1	0	0	0	4068	893	31	1	1963	1	CWC22	2	180835797	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	1240359	180835797	62363576	5	38573											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	43	0	0	0	1	0	14	43					T	209113112	C	T	209113112	3	4	467	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	28277315	209113112	34086261	6	38574											
ROBO2	6092	broad.mit.edu	37	chr3	77638042	77638042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggttttagcatatggttgTattggcgaagaaagaagagg	15	2	0	3			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:77638042T>C	ENST00000461745.1	+	17	3541	c.2641T>C	c.(2641-2643)Tat>Cat	p.Y881H	ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	881					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)		CATATGGTTGTATTGGCGAAG	0.408																																						ENST00000461745.1																			0				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						c.(2641-2643)Tat>Cat		roundabout, axon guidance receptor, homolog 2 (Drosophila)							187	175	179					3																	77638042		1883	4111	5994	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77638042T>C	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.2641T>C	3.37:g.77638042T>C	ENSP00000417164:p.Tyr881His					ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H	p.Y881H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		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)	17	3541	+			881					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2641T>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230725	0.79688	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64618	-0.11;-0.08;-0.05	5.78	5.78	0.91487	.	0.000000	0.38720	U	0.001597	T	0.75975	0.3923	L	0.56124	1.755	0.40599	D	0.981560	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79322	-0.1851	9	0.87932	D	0	.	16.1167	0.81309	0.0:0.0:0.0:1.0	.	897;881;881	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	897;897;901;881;881	ENSP00000417335:Y897H;ENSP00000417164:Y881H;ENSP00000327536:Y881H	ENSP00000327536:Y881H	Y	+	1	0	ROBO2	77720732	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	8.040000	0.89188	2.204000	0.70986	0.528000	0.53228	TAT		0.408	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	63	0	0	0	1	0	7	63					C	77638042	T	C	77638042	3	2	467	1	0	0	0	0	1	0	0	0	13514	1638	57	3	2709	3	ROBO2	3	77638042	Missense_Mutation	SNP	T	TCGA-TM-A84F-01A-11D-A36O-08		77638042	120384388	7	38575											
PIK3CA	5290	broad.mit.edu	37	chr3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagataaaactgagcaagagGctttggagtatttcatgaaa	10	4	1	4			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		A -> V (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.A1035T(2)		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)	TGAGCAAGAGGCTTTGGAGTA	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		2	Substitution - Missense(2)	p.A1035T(2)	urinary_tract(1)|endometrium(1)	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						c.(3103-3105)Gct>Act		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97	86	89					3																	178952048		1887	4127	6014	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952048G>A		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.3103G>A	3.37:g.178952048G>A	ENSP00000263967:p.Ala1035Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1035T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3260	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1035		A -> V (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3103G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503960	0.85176	.	.	ENSG00000121879	ENST00000263967	D	0.83673	-1.75	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94434	0.7652	10	0.87932	D	0	-13.9415	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1035	P42336	PK3CA_HUMAN	T	1035	ENSP00000263967:A1035T	ENSP00000263967:A1035T	A	+	1	0	PIK3CA	180434742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GCT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			3	56	0	0	0	1	0	3	56					A	178952048	G	A	178952048	3	1	467	1	0	0	0	0	1	0	0	0	11913	1203	42	2	3181	2	PIK3CA	3	178952048	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	101314006	178952048	19070382	8	38576											
EREG	2069	broad.mit.edu	37	chr4	75248410	75248410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaacacttctttttaacCgtccaccaacctttaagcaa	4	12	1	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:75248410C>T	ENST00000244869.2	+	4	493	c.327C>T	c.(325-327)acC>acT	p.T109T	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	109					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCTTTTTAACCGTCCACCAAC	0.368																																						ENST00000244869.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(325-327)acC>acT		epiregulin							171	161	164					4																	75248410		2203	4300	6503	SO:0001819	synonymous_variant	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75248410C>T	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.327C>T	4.37:g.75248410C>T						EREG_ENST00000503689.1_3'UTR	p.T109T	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	Lung(101;0.196)		4	493	+			109					B2RC66|Q6FH69	Silent	SNP	ENST00000244869.2	37	c.327C>T	CCDS3564.1																																																																																				0.368	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			4	70	0	0	0	1	0	4	70					T	75248410	C	T	75248410	2	4	467	1	0	0	0	0	0	0	0	1	5220	639	23	1		1	EREG	4	75248410	Silent	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		75248410	115905866	9	38577											
MEPE	56955	broad.mit.edu	37	chr4	88766136	88766136	+	Frame_Shift_Del	DEL	A	A	-													aattgtattttagcaggaagAaaaaaacaaagacaatattg							TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:88766136delA	ENST00000424957.3	+	4	189	c.116delA	c.(115-117)gaafs	p.E39fs	MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Frame_Shift_Del_p.E15fs|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000540395.1_5'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	39					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TAGCAGGAAGAAAAAAACAAA	0.259																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(43-45)gafs		matrix extracellular phosphoglycoprotein			,,,,	0,4252		0,0,2126					,,,,	5	0.8			3	4,8218		1,2,4108	no	frameshift,utr-5,utr-5,utr-5,frameshift	MEPE	NM_020203.3,NM_001184697.1,NM_001184696.1,NM_001184695.1,NM_001184694.1	,,,,	1,2,6234	A1A1,A1R,RR		0.0486,0.0,0.0321	,,,,	,,,,		4,12470				SO:0001589	frameshift_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766136delA	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.116delA	4.37:g.88766136delA	ENSP00000416984:p.Glu39fs					MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000424957.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000540395.1_5'UTR	p.E15fs			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	422	+		Hepatocellular(203;0.114)	39					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Frame_Shift_Del	DEL	ENST00000424957.3	37	c.44delA	CCDS3625.1																																																																																				0.259	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			13	23						13	23	---	---	---	---	-	88766136	A	-	88766136	7	5	467	1	0	1	0	1	0	0	0	0	9478	246	9	0	126	0	MEPE	4	88766136	Frame_Shift_Del	DEL	A	TCGA-TM-A84F-01A-11D-A36O-08	13517726	88766136	102388140	10	38578											
TTYH3	80727	broad.mit.edu	37	chr7	2689592	2689592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgcctacgtgaccaaaAtggtggaggagtactcggtg	14	9	0	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr7:2689592A>G	ENST00000258796.7	+	7	1046	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V|TTYH3_ENST00000477439.1_3'UTR	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	281					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGTGACCAAAATGGTGGAGGA	0.622																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(841-843)Atg>Gtg		tweety family member 3							121	100	107					7																	2689592		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2689592A>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.841A>G	7.37:g.2689592A>G	ENSP00000258796:p.Met281Val					TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V	p.M281V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	7	1046	+		Ovarian(82;0.0112)	281					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.841A>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	A	4.591	0.109801	0.08780	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.10573	2.86;2.86;2.86	4.48	3.32	0.38043	.	0.156810	0.64402	D	0.000020	T	0.04092	0.0114	N	0.03324	-0.35	0.37450	D	0.914784	B;B	0.10296	0.003;0.002	B;B	0.17098	0.005;0.017	T	0.40040	-0.9584	10	0.16896	T	0.51	.	6.6898	0.23165	0.7465:0.0:0.2535:0.0	.	110;281	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	V	281;249;110	ENSP00000258796:M281V;ENSP00000385316:M249V;ENSP00000385015:M110V	ENSP00000258796:M281V	M	+	1	0	TTYH3	2656118	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.937000	0.48979	0.576000	0.29452	0.528000	0.53228	ATG		0.622	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		11	33	0	0	0	1	0	11	33					G	2689592	A	G	2689592	3	3	467	1	0	0	0	0	1	0	0	0	16738	101	4	3	867	3	TTYH3	7	2689592	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08		2689592	156449071	11	38579											
GALNT4	8693	broad.mit.edu	37	chr12	89916698	89916698	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactaagacacagtcctgaGtgtgggtgaaaaatagttcc	11	8	0	3			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr12:89916698G>T	ENST00000529983.2	-	1	1885	c.1629C>A	c.(1627-1629)caC>caA	p.H543Q	POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.H371Q|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.H540Q|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	543	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACAGTCCTGAGTGTGGGTGAA	0.398																																						ENST00000548729.1																			0											c.(1618-1620)caC>caA									111	107	108					12																	89916698		1857	4106	5963	SO:0001583	missense	0							g.chr12:89916698G>T	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1629C>A	12.37:g.89916698G>T	ENSP00000436604:p.His543Gln					POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.H543Q|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.H371Q|POC1B_ENST00000541909.1_Intron	p.H540Q	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1922	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.1620C>A	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	G	2.664	-0.279148	0.05642	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.25085	1.82;1.82;1.82	5.93	-1.47	0.08772	Ricin B-related lectin (1);Ricin B lectin (3);	.	.	.	.	T	0.08268	0.0206	N	0.04805	-0.155	0.33805	D	0.627166	B;B	0.10296	0.002;0.003	B;B	0.14023	0.006;0.01	T	0.38672	-0.9650	9	0.13853	T	0.58	.	1.3521	0.02175	0.4043:0.262:0.2006:0.1332	.	540;543	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	Q	540;371;543	ENSP00000447852:H540Q;ENSP00000389686:H371Q;ENSP00000436604:H543Q	ENSP00000436604:H543Q	H	-	3	2	GALNT4;RP11-1109F11.4	88440829	0.999000	0.42202	0.965000	0.40720	0.840000	0.47671	0.625000	0.24477	0.142000	0.18901	-0.189000	0.12847	CAC		0.398	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		8	72	1	0	1.06961e-07	1	1.06961e-07	8	72					T	89916698	G	T	89916698	3	4	467	1	0	0	0	0	1	0	0	0	6215	1020	36	4	111	4	GALNT4	12	89916698	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		89916698	43935197	12	38580											
GSX1	219409	broad.mit.edu	37	chr13	28367943	28367944	+	Frame_Shift_Ins	INS	-	-	T													cgtggcggcggcggcgggggINStgccggtggtggcgggagcg							TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr13:28367943_28367944insT	ENST00000302945.2	+	2	701_702	c.653_654insT	c.(652-657)ggtgccfs	p.A219fs		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	219	Poly-Gly.				adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	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)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ggcggcgggggtgccggtggtg	0.629																																						ENST00000302945.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(652-654)ggcfs		GS homeobox 1																																				SO:0001589	frameshift_variant	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367943_28367944insT	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"Homeoboxes / ANTP class : HOXL subclass"	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.654dupT	13.37:g.28367944_28367944dupT	ENSP00000304331:p.Ala219fs						p.G218fs	NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	701_702	+		Lung SC(185;0.0161)	218			Poly-Gly.		Q9UD62	Frame_Shift_Ins	INS	ENST00000302945.2	37	c.653_654insT	CCDS9326.1																																																																																				0.629	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		14	26						14	26	---	---	---	---	T	28367944	-	T	28367943	7	5	467	1	0	1	1	0	0	0	0	0	6849	1261	44	0	659	0	GSX1	13	28367943	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08		28367943	86801935	13	38581											
DUOX2	50506	broad.mit.edu	37	chr15	45397878	45397878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaagatctccaggatgCgttcccgctgctgctttgtc	11	11	1	3	rs545643570	byFrequency	TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:45397878C>T	ENST00000603300.1	-	18	2499	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	DUOX2_ENST00000389039.6_Missense_Mutation_p.R766H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	766					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)		CTCCAGGATGCGTTCCCGCTG	0.562													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.001					ENST00000389039.6																			0				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						c.(2296-2298)cGc>cAc		dual oxidase 2							138	124	129					15																	45397878		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45397878C>T	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.2297G>A	15.37:g.45397878C>T	ENSP00000475084:p.Arg766His					DUOX2_ENST00000603300.1_Missense_Mutation_p.R766H	p.R766H			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	18	2682	-		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)	766					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2297G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806516	0.31961	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.63	2.35	0.29111	.	0.485574	0.24698	N	0.036334	T	0.06096	0.0158	N	0.00347	-1.61	0.09310	N	0.999999	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.27331	-1.0077	9	0.24483	T	0.36	-4.5297	2.3452	0.04270	0.2292:0.4442:0.0:0.3267	.	766;328	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	H	766	.	ENSP00000373691:R766H	R	-	2	0	DUOX2	43185170	0.688000	0.27680	0.725000	0.30721	0.995000	0.86356	0.975000	0.29449	1.367000	0.46095	0.655000	0.94253	CGC		0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		26	46	0	0	0	1	0	26	46					T	45397878	C	T	45397878	3	4	467	1	0	0	0	0	1	0	0	0	4801	768	27	1	2417	1	DUOX2	15	45397878	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		45397878	57133514	14	38582											
TCF12	6938	broad.mit.edu	37	chr15	57524624	57524625	+	Frame_Shift_Ins	INS	-	-	C													aaccttcattcacatgaccgINScttggtaggctataacacgt							TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:57524624_57524625insC	ENST00000267811.5	+	10	1125_1126	c.821_822insC	c.(820-825)cgcttgfs	p.RL274fs	TCF12_ENST00000560764.1_Intron|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.RL104fs|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.RL104fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.RL270fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.RL274fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGCT	0.446			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(820-822)cttfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57524624_57524625insC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.822dupC	15.37:g.57524625_57524625dupC	ENSP00000267811:p.Arg274fs					TCF12_ENST00000343827.3_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.L270fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron	p.L274fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	10	1125_1126	+		Colorectal(260;0.0907)	274					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.821_822insC	CCDS10159.1																																																																																				0.446	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		34	48						34	48	---	---	---	---	C	57524625	-	C	57524624	7	5	467	1	0	1	1	0	0	0	0	0	15684	1087	38	0	928	0	TCF12	15	57524624	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08	12126746	57524624	45006768	15	38583											
HERC1	8925	broad.mit.edu	37	chr15	63933734	63933734	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caaaaatgctctcatgcaggGagccatgttcaatcccagaa	8	11	2	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:63933734G>C	ENST00000443617.2	-	60	11629	c.11542C>G	c.(11542-11544)Ccc>Gcc	p.P3848A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3848					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						CTCATGCAGGGAGCCATGTTC	0.483																																						ENST00000443617.2																			0				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						c.(11542-11544)Ccc>Gcc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							76	71	73					15																	63933734		1921	4142	6063	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63933734G>C	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.11542C>G	15.37:g.63933734G>C	ENSP00000390158:p.Pro3848Ala						p.P3848A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			60	11629	-			3848					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.11542C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082730	0.94050	.	.	ENSG00000103657	ENST00000443617	T	0.26810	1.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	L	0.29908	0.895	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.01424	-1.1358	10	0.62326	D	0.03	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	3848	Q15751	HERC1_HUMAN	A	3848	ENSP00000390158:P3848A	ENSP00000390158:P3848A	P	-	1	0	HERC1	61720787	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	CCC		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		10	17	0	0	0	1	0	10	17					C	63933734	G	C	63933734	3	2	467	1	0	0	0	0	1	0	0	0	7057	1174	41	4	3119	4	HERC1	15	63933734	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	6409110	63933734	38597658	16	38584											
IQGAP1	8826	broad.mit.edu	37	chr15	91016190	91016190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttagttcgacaggaattccGatccaggatgaatttcctga	9	9	0	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:91016190G>A	ENST00000268182.5	+	19	2421	c.2297G>A	c.(2296-2298)cGa>cAa	p.R766Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	766	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)			CAGGAATTCCGATCCAGGATG	0.517																																						ENST00000268182.5																			0				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						c.(2296-2298)cGa>cAa		IQ motif containing GTPase activating protein 1							99	100	100					15																	91016190		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91016190G>A	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.2297G>A	15.37:g.91016190G>A	ENSP00000268182:p.Arg766Gln					IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	p.R766Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		19	2421	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		766			IQ 1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2297G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031761	0.35797	.	.	ENSG00000140575	ENST00000268182	T	0.27890	1.64	6.02	5.08	0.68730	.	0.233498	0.35870	N	0.002925	T	0.09992	0.0245	N	0.01438	-0.865	0.31205	N	0.699375	B	0.06786	0.001	B	0.04013	0.001	T	0.16748	-1.0392	10	0.13853	T	0.58	-6.2325	7.0994	0.25327	0.2754:0.0:0.7246:0.0	.	766	P46940	IQGA1_HUMAN	Q	766	ENSP00000268182:R766Q	ENSP00000268182:R766Q	R	+	2	0	IQGAP1	88817194	0.997000	0.39634	0.970000	0.41538	0.996000	0.88848	2.810000	0.47979	1.478000	0.48253	0.655000	0.94253	CGA		0.517	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		36	73	0	0	0	1	0	36	73					A	91016190	G	A	91016190	3	1	467	1	0	0	0	0	1	0	0	0	7814	1058	37	1	2371	1	IQGAP1	15	91016190	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	27082456	91016190	11515202	17	38585											
TP53	7157	broad.mit.edu	37	chr17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcacctcaaagctgttccGtcccagtagattaccactac	6	15	1	1	rs55832599		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAGCTGTTCCGTCCCAGTAGA	0.522		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(1)	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(9)|central_nervous_system(9)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thymus(1)|breast(1)|skin(1)|eye(1)|prostate(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						c.(799-801)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							51	45	47					17																	7577139		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577139G>A	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.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W	p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.799C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307537	0.81247	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	4.15	0.48705	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99862	0.9935	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;P	0.89917	0.974;1.0;0.979;0.876	P;D;P;P	0.91635	0.703;0.999;0.868;0.728	D	0.96589	0.9436	10	0.87932	D	0	-8.7531	12.741	0.57253	0.0:0.0:0.8346:0.1654	rs55832599	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	267;267;267;267;267;256;135	ENSP00000352610:R267W;ENSP00000269305:R267W;ENSP00000398846:R267W;ENSP00000391127:R267W;ENSP00000391478:R267W;ENSP00000425104:R135W	ENSP00000269305:R267W	R	-	1	2	TP53	7517864	0.998000	0.40836	0.876000	0.34364	0.812000	0.45895	2.565000	0.45939	1.360000	0.45960	0.462000	0.41574	CGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	7	0	0	0	1	0	5	7					A	7577139	G	A	7577139	3	1	467	1	0	0	0	0	1	0	0	0	16378	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		7577139	73618071	18	38586											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	16	10	1	3			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577532G>C	ENST00000269305.4	-	7	938	c.749C>G	c.(748-750)cCc>cGc	p.P250R	TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000420246.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000359597.4_Missense_Mutation_p.P250R	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(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	GRCh37	CM973401	TP53	M		c.(748-750)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							154	112	126					17																	7577532		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577532G>C	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.749C>G	17.37:g.7577532G>C	ENSP00000269305:p.Pro250Arg	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)				TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000269305.4_Missense_Mutation_p.P250R|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000359597.4_Missense_Mutation_p.P250R	p.P250R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.749C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111004	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91406	3.205	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	0.994;0.996;0.997;0.997;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	R	250;250;250;250;250;250;239;118	ENSP00000410739:P250R;ENSP00000352610:P250R;ENSP00000269305:P250R;ENSP00000398846:P250R;ENSP00000391127:P250R;ENSP00000391478:P250R;ENSP00000425104:P118R	ENSP00000269305:P250R	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	32	0	0	0	1	0	3	32					C	7577532	G	C	7577532	3	2	467	1	0	0	0	0	1	0	0	0	16378	1232	43	4	541	4	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	393	7577532	73617678	19	38587											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtctgggtcaccctgcaCgcctctgctccccatggctg	11	18	3	0			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				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						TCACCCTGCACGCCTCTGCTC	0.672																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(385-387)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 15							68	70	69					17																	8215743		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215743C>T	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.386C>T	17.37:g.8215743C>T	ENSP00000355026:p.Thr129Met					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	496	+			129			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.386C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.819827	0.02776	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71817	-0.6;-0.6	4.87	2.89	0.33648	.	2.365140	0.01590	N	0.021519	T	0.58018	0.2093	N	0.19112	0.55	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.41787	-0.9489	10	0.28530	T	0.3	0.2461	7.6286	0.28226	0.0:0.8068:0.0:0.1932	.	129;129	D3DTR7;O94989	.;ARHGF_HUMAN	M	129	ENSP00000355026:T129M;ENSP00000412505:T129M	ENSP00000355026:T129M	T	+	2	0	ARHGEF15	8156468	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.784000	0.26816	0.672000	0.31204	-0.263000	0.10527	ACG		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		53	31	0	0	0	1	0	53	31					T	8215743	C	T	8215743	3	4	467	1	0	0	0	0	1	0	0	0	898	536	19	1	388	1	ARHGEF15	17	8215743	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	638211	8215743	72979467	20	38588											
MED1	5469	broad.mit.edu	37	chr17	37580057	37580059	+	In_Frame_Del	DEL	GAG	GAG	-													cactgttggcactggtgattGaggagaaggaaggggtcctt							TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:37580057_37580059delGAG	ENST00000394287.3	-	12	1072_1074	c.867_869delCTC	c.(865-870)tcctca>tca	p.289_290SS>S	MED1_ENST00000300651.6_In_Frame_Del_p.289_290SS>S			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)		ACTGGTGATTGAGGAGAAGGAAG	0.409										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				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						c.(865-870)tca>tc		mediator complex subunit 1																																				SO:0001651	inframe_deletion	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37580057_37580059delGAG	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.867_869delCTC	17.37:g.37580060_37580062delGAG	ENSP00000377828:p.Ser290del	HNSCC(31;0.082)				MED1_ENST00000394287.3_In_Frame_Del_p.SS289del	p.SS289del	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	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)	12	1090_1092	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	289			Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	In_Frame_Del	DEL	ENST00000394287.3	37	c.867_869delCTC																																																																																					0.409	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		9	44						9	44	---	---	---	---	-	37580059	GAG	-	37580057	7	5	467	1	0	1	0	1	0	0	0	0	9425	1294	45	0	3900	0	MED1	17	37580057	In_Frame_Del	DEL	GAG	TCGA-TM-A84F-01A-11D-A36O-08	29364314	37580057	43615153	21	38589											
ABCA9	10350	broad.mit.edu	37	chr17	67023806	67023806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccacttcatgtggcaaaAtcccttttattttagcaaac	4	11	2	0			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:67023806A>G	ENST00000340001.4	-	13	1977	c.1766T>C	c.(1765-1767)aTt>aCt	p.I589T	ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	589	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)					ATGTGGCAAAATCCCTTTTAT	0.353																																						ENST00000340001.4																			0				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						c.(1765-1767)aTt>aCt		ATP-binding cassette, sub-family A (ABC1), member 9							85	80	82					17																	67023806		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023806A>G	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.1766T>C	17.37:g.67023806A>G	ENSP00000342216:p.Ile589Thr					ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T	p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			13	1977	-	Breast(10;1.47e-12)		589			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1766T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593402	0.46214	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.39997	1.05;1.05	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.49305	D	0.000159	T	0.52837	0.1759	L	0.35288	1.05	0.45318	D	0.998315	D;D	0.69078	0.996;0.997	D;D	0.74674	0.984;0.983	T	0.56786	-0.7921	10	0.87932	D	0	.	14.0011	0.64433	1.0:0.0:0.0:0.0	.	589;589	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	589;572;589;584	ENSP00000342216:I589T;ENSP00000359767:I589T	ENSP00000342216:I589T	I	-	2	0	ABCA9	64535401	1.000000	0.71417	0.996000	0.52242	0.068000	0.16541	7.729000	0.84864	2.062000	0.61559	0.482000	0.46254	ATT		0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	62	0	0	0	1	0	3	62					G	67023806	A	G	67023806	3	3	467	1	0	0	0	0	1	0	0	0	39	101	4	3	3216	3	ABCA9	17	67023806	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08	29443749	67023806	14171404	22	38590											
EVPL	2125	broad.mit.edu	37	chr17	74003665	74003665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcacagagtagcgctcaCggctgagcaggtccacgatg	14	11	1	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:74003665C>T	ENST00000301607.3	-	22	5874	c.5621G>A	c.(5620-5622)cGt>cAt	p.R1874H	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1874	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTAGCGCTCACGGCTGAGCAG	0.627																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5620-5622)cGt>cAt		envoplakin							93	90	91					17																	74003665		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003665C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5621G>A	17.37:g.74003665C>T	ENSP00000301607:p.Arg1874His					EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	p.R1874H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5874	-			1874			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5621G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019990	0.54576	.	.	ENSG00000167880	ENST00000301607	T	0.73047	-0.71	5.48	5.48	0.80851	.	0.258445	0.38111	N	0.001807	T	0.73768	0.3629	L	0.29908	0.895	0.27027	N	0.964327	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.66192	-0.5985	10	0.33940	T	0.23	-28.1358	12.6684	0.56855	0.0:0.9248:0.0:0.0752	.	1896;1874	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1874	ENSP00000301607:R1874H	ENSP00000301607:R1874H	R	-	2	0	EVPL	71515260	0.989000	0.36119	0.991000	0.47740	0.737000	0.42083	2.514000	0.45503	2.564000	0.86499	0.561000	0.74099	CGT		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	138	0	0	0	1	0	4	138					T	74003665	C	T	74003665	3	4	467	1	0	0	0	0	1	0	0	0	5292	536	19	1	484	1	EVPL	17	74003665	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	6979859	74003665	7191545	23	38591											
ZNF792	126375	broad.mit.edu	37	chr19	35449165	35449165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgctgcactcataaggccGctcgccggtgtgaagtctcc	11	14	2	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr19:35449165G>A	ENST00000404801.1	-	4	1980	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	532					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(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCATAAGGCCGCTCGCCGGTG	0.517																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1594-1596)Cgg>Tgg		zinc finger protein 792							60	53	56					19																	35449165		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449165G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1594C>T	19.37:g.35449165G>A	ENSP00000385099:p.Arg532Trp					ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	p.R532W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1980	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		532					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1594C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	14.43	2.533734	0.45073	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.20332	2.08	2.69	0.335	0.15953	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	M	0.89287	3.02	0.24112	N	0.995839	P	0.42584	0.784	B	0.35353	0.201	T	0.20840	-1.0263	9	0.87932	D	0	.	8.2584	0.31771	0.0:0.0:0.3728:0.6272	.	532	Q3KQV3	ZN792_HUMAN	W	532;292	ENSP00000385099:R532W	ENSP00000368487:R292W	R	-	1	2	ZNF792	40141005	0.038000	0.19896	0.014000	0.15608	0.844000	0.47949	2.376000	0.44292	0.165000	0.19558	0.563000	0.77884	CGG		0.517	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		12	25	0	0	0	1	0	12	25					A	35449165	G	A	35449165	3	1	467	1	0	0	0	0	1	0	0	0	18161	1086	38	1	308	1	ZNF792	19	35449165	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		35449165	23679818	24	38592											
MYH7B	57644	broad.mit.edu	37	chr20	33586196	33586196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggcggacgcaagcacGcagcgtgggcgactacagac	15	13	0	1	rs367556657		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:33586196G>A	ENST00000262873.7	+	31	4064	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1282						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGCAAGCACGCAGCGTGGGC	0.647																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3970-3972)acG>acA		myosin, heavy chain 7B, cardiac muscle, beta		G		0,4346		0,0,2173	50	60	57		3972	0.4	1	20		57	1,8551		0,1,4275	no	coding-synonymous	MYH7B	NM_020884.3		0,1,6448	AA,AG,GG		0.0117,0.0,0.0078		1324/1984	33586196	1,12897	2173	4276	6449	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586196G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3972G>A	20.37:g.33586196G>A							p.T1324T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		31	4064	+			1282					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.3972G>A	CCDS42869.1																																																																																				0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		25	58	0	0	0	1	0	25	58					A	33586196	G	A	33586196	2	1	467	1	0	0	0	0	0	0	0	1	10040	1074	38	1		1	MYH7B	20	33586196	Silent	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		33586196	29439324	25	38593											
MYT1	4661	broad.mit.edu	37	chr20	62854706	62854707	+	Frame_Shift_Ins	INS	-	-	C													atggctgcccactctgctgaINScctcaagtatgtttgcgctc							TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:62854706_62854707insC	ENST00000328439.1	+	16	2886_2887	c.2522_2523insC	c.(2521-2526)gacctcfs	p.L842fs	MYT1_ENST00000536311.1_Frame_Shift_Ins_p.L869fs|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACTCTGCTGACCTCAAGTATG	0.55																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2602-2604)gctfs		myelin transcription factor 1																																				SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854706_62854707insC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2524dupC	20.37:g.62854708_62854708dupC	ENSP00000327465:p.Leu842fs					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.A841fs	p.A868fs			Q01538	MYT1_HUMAN			16	2967_2968	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		841					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	c.2603_2604insC	CCDS13558.1																																																																																				0.55	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		61	133						61	133	---	---	---	---	C	62854707	-	C	62854706	7	5	467	1	0	1	1	0	0	0	0	0	10106	275	10	0	2576	0	MYT1	20	62854706	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08	29268510	62854706	170814	26	38594											
FUBP1	8880	broad.mit.edu	37	chr1	78428491	78428491	+	Frame_Shift_Del	DEL	T	T	-													atgagttgccgagcatagtcTatctgttgtggagtgccacg							TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:78428491delT	ENST00000370768.2	-	14	1389	c.1308delA	c.(1306-1308)atafs	p.I436fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I436fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	436	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGCATAGTCTATCTGTTGTG	0.373			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1306-1308)atfs		far upstream element (FUSE) binding protein 1							117	110	113					1																	78428491		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428491delT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1308delA	1.37:g.78428491delT	ENSP00000359804:p.Ile436fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I436fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs	p.I436fs			Q96AE4	FUBP1_HUMAN			14	1395	-			436			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1308delA	CCDS683.1																																																																																				0.373	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		45	4						45	4	---	---	---	---	-	78428491	T	-	78428491	7	5	468	1	0	1	0	1	0	0	0	0	6092	1512	53	0	654	0	FUBP1	1	78428491	Frame_Shift_Del	DEL	T	TCGA-TM-A84G-01A-11D-A36O-08		78428491	170822130	1	38595											
CELF3	11189	broad.mit.edu	37	chr1	151677561	151677561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccgctttagctggacttTgaggcgcttcatgccgatct	12	11	2	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:151677561T>C	ENST00000290583.4	-	12	2147	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E	CELF3_ENST00000290585.4_Missense_Mutation_p.K402E|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	452	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGCTGGACTTTGAGGCGCTTC	0.627																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(1354-1356)Aaa>Gaa		CUGBP, Elav-like family member 3							67	65	66					1																	151677561		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151677561T>C	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1354A>G	1.37:g.151677561T>C	ENSP00000290583:p.Lys452Glu					CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.K402E	p.K452E	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			12	2147	-			452			RRM 3.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.1354A>G	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	31	5.069569	0.93950	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706	T;T;T	0.36878	3.33;3.33;1.23	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	0.988;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.966;1.0;0.999;0.996;0.991	T	0.70554	-0.4840	10	0.87932	D	0	-19.1882	12.9024	0.58133	0.0:0.0:0.0:1.0	.	247;402;451;452;451	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	E	402;452;247	ENSP00000290585:K402E;ENSP00000290583:K452E;ENSP00000376470:K247E	ENSP00000290583:K452E	K	-	1	0	CELF3	149944185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.147000	0.66899	0.533000	0.62120	AAA		0.627	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		22	29	0	0	0	1	0	22	29					C	151677561	T	C	151677561	3	2	468	1	0	0	0	0	1	0	0	0	3217	1821	63	3	47	3	CELF3	1	151677561	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08	73249070	151677561	97573060	2	38596											
ITSN2	50618	broad.mit.edu	37	chr2	24524110	24524111	+	Splice_Site	INS	-	-	A													tcaatttgctttcctcctctINSaaaaaaatcaaacaacaaag							TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:24524110_24524111insA	ENST00000355123.4	-	11	1439		c.e11-2		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCTCCTCTAAAAAAATCAA	0.366																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.e11-2		intersectin 2																																				SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24524110_24524111insA	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.996-2->T	2.37:g.24524117_24524117dupA						ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000361999.3_Splice_Site		NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			11	1439	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	INS	ENST00000355123.4	37		CCDS1710.2																																																																																				0.366	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Intron	25	44						25	44	---	---	---	---	A	24524111	-	A	24524110	8	5	468	1	0	1	1	0	0	0	1	0	7927	1536	53	0	4270	0	ITSN2	2	24524110	Splice_Site	INS	-	TCGA-TM-A84G-01A-11D-A36O-08		24524110	218675263	3	38597											
USP39	10713	broad.mit.edu	37	chr2	85852729	85852729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcaagccaaattgtcccGggcatatgatggtaccactt	9	11	0	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:85852729G>A	ENST00000323701.6	+	5	648	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	USP39_ENST00000409025.1_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	213					cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAATTGTCCCGGGCATATGAT	0.433																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(637-639)cGg>cAg		ubiquitin specific peptidase 39							144	130	135					2																	85852729		2203	4300	6503	SO:0001583	missense	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85852729G>A	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.638G>A	2.37:g.85852729G>A	ENSP00000312981:p.Arg213Gln					USP39_ENST00000409025.1_Missense_Mutation_p.R213Q|USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q	p.R213Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			5	648	+			213					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	c.638G>A	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743818	0.96873	.	.	ENSG00000168883	ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.24151	1.87;2.11;2.41;2.41;2.15	6.16	6.16	0.99307	.	0.056391	0.64402	N	0.000001	T	0.53786	0.1818	M	0.79123	2.44	0.80722	D	1	D;P;D;D;D;P	0.89917	0.974;0.826;1.0;1.0;0.999;0.953	P;B;D;D;D;P	0.72338	0.557;0.158;0.977;0.967;0.967;0.475	T	0.45396	-0.9264	10	0.42905	T	0.14	-5.6381	18.3537	0.90348	0.0:0.0:1.0:0.0	.	110;135;213;213;213;213	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	Q	110;110;213;213;213;213;213	ENSP00000396133:R110Q;ENSP00000386572:R213Q;ENSP00000386864:R213Q;ENSP00000312981:R213Q;ENSP00000386803:R213Q	ENSP00000312981:R213Q	R	+	2	0	USP39	85706240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.152000	0.94680	2.937000	0.99478	0.650000	0.86243	CGG		0.433	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		14	91	0	0	0	1	0	14	91					A	85852729	G	A	85852729	3	1	468	1	0	0	0	0	1	0	0	0	17067	1116	39	1	656	1	USP39	2	85852729	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	61328619	85852729	157346644	4	38598											
IL18RAP	8807	broad.mit.edu	37	chr2	103063658	103063658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagagcaaggatcagAcgcttgggggtaagtttacc	12	10	1	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:103063658A>G	ENST00000264260.2	+	10	1790	c.1201A>G	c.(1201-1203)Acg>Gcg	p.T401A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	401					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGGATCAGACGCTTGGGGG	0.557																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1201-1203)Acg>Gcg		interleukin 18 receptor accessory protein							131	134	133					2																	103063658		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063658A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1201A>G	2.37:g.103063658A>G	ENSP00000264260:p.Thr401Ala					IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A	p.T401A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1790	+			401					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1201A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255234	0.59321	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.21031	2.03;2.03	6.05	6.05	0.98169	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.000000	0.64402	D	0.000001	T	0.35566	0.0936	M	0.82056	2.57	0.35550	D	0.803764	D	0.56521	0.976	P	0.47206	0.541	T	0.54549	-0.8277	10	0.48119	T	0.1	.	15.1642	0.72807	1.0:0.0:0.0:0.0	.	401	O95256	I18RA_HUMAN	A	401;259	ENSP00000264260:T401A;ENSP00000387201:T259A	ENSP00000264260:T401A	T	+	1	0	IL18RAP	102430090	1.000000	0.71417	0.967000	0.41034	0.260000	0.26232	6.049000	0.71053	2.320000	0.78422	0.528000	0.53228	ACG		0.557	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		56	90	0	0	0	1	0	56	90					G	103063658	A	G	103063658	3	3	468	1	0	0	0	0	1	0	0	0	7648	275	10	3	1231	3	IL18RAP	2	103063658	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	17210929	103063658	140135715	5	38599											
POTEE	445582	broad.mit.edu	37	chr2	131984464	131984465	+	Frame_Shift_Ins	INS	-	-	A													tcgtgaaatttttaatcaagINSaaaaaagcgaatttaaatgc					rs371664982	byFrequency	TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:131984464_131984465insA	ENST00000356920.5	+	4	973_974	c.879_880insA	c.(880-882)aaafs	p.K294fs	RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.K304fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	294					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTTTAATCAAGAAAAAAGCGAA	0.342																																						ENST00000356920.5																			0											c.(877-882)aaaaaafs		POTE ankyrin domain family, member E																																				SO:0001589	frameshift_variant	445582						ATP binding	g.chr2:131984464_131984465insA	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.885dupA	2.37:g.131984470_131984470dupA	ENSP00000439189:p.Lys294fs					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.KK303fs|PLEKHB2_ENST00000404460.1_Intron	p.KK293fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			4	973_974	+			293					Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	c.879_880insA	CCDS46414.1																																																																																				0.342	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		37	116						37	116	---	---	---	---	A	131984465	-	A	131984464	7	5	468	1	0	1	1	0	0	0	0	0	12264	933	33	0	893	0	POTEE	2	131984464	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08	28920806	131984464	111214909	6	38600											
CCDC150	284992	broad.mit.edu	37	chr2	197521413	197521413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagccagaaagtcattaGtcctatccaaaatgaagcaa	8	9	1	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:197521413G>A	ENST00000389175.4	+	3	368	c.233G>A	c.(232-234)aGt>aAt	p.S78N	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	78										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGTCATTAGTCCTATCCAA	0.388																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(232-234)aGt>aAt		coiled-coil domain containing 150							77	73	74					2																	197521413		1817	4082	5899	SO:0001583	missense	284992							g.chr2:197521413G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.233G>A	2.37:g.197521413G>A	ENSP00000373827:p.Ser78Asn					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	p.S78N	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			3	368	+			78					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.233G>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	7.445	0.641576	0.14451	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.32753	1.44	5.03	1.84	0.25277	.	0.934107	0.08920	N	0.874598	T	0.28896	0.0717	L	0.59436	1.845	0.09310	N	1	B;B	0.33238	0.275;0.403	B;B	0.33890	0.172;0.12	T	0.23297	-1.0192	10	0.27785	T	0.31	-0.5569	7.592	0.28027	0.0967:0.3207:0.5825:0.0	.	78;78	Q8NCX0;F5H6M2	CC150_HUMAN;.	N	78	ENSP00000373827:S78N	ENSP00000373827:S78N	S	+	2	0	CCDC150	197229658	0.163000	0.22920	0.006000	0.13384	0.061000	0.15899	1.561000	0.36342	0.640000	0.30582	0.655000	0.94253	AGT		0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		14	18	0	0	0	1	0	14	18					A	197521413	G	A	197521413	3	1	468	1	0	0	0	0	1	0	0	0	2785	1029	36	2	243	2	CCDC150	2	197521413	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	65536949	197521413	45677960	7	38601											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			43	35	0	0	0	1	0	43	35					T	209113112	C	T	209113112	3	4	468	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	11591699	209113112	34086261	8	38602											
PRICKLE2	166336	broad.mit.edu	37	chr3	64148708	64148708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctcattgtcatgtggcGgcagctggtgtagtagctgc	13	9	2	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr3:64148708G>A	ENST00000295902.6	-	3	827	c.242C>T	c.(241-243)cCg>cTg	p.P81L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	81	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCATGTGGCGGCAGCTGGTG	0.463																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(241-243)cCg>cTg		prickle homolog 2 (Drosophila)							209	202	205					3																	64148708		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64148708G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.242C>T	3.37:g.64148708G>A	ENSP00000295902:p.Pro81Leu					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L	p.P81L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	3	827	-		Lung NSC(201;0.136)	81			PET.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.242C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969124	0.92855	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.96232	-3.95;-3.95	6.01	6.01	0.97437	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.98905	0.9629	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99053	1.0828	10	0.87932	D	0	-20.6318	20.5211	0.99222	0.0:0.0:1.0:0.0	.	81	Q7Z3G6	PRIC2_HUMAN	L	81	ENSP00000295902:P81L;ENSP00000419951:P81L	ENSP00000295902:P81L	P	-	2	0	PRICKLE2	64123748	1.000000	0.71417	0.955000	0.39395	0.707000	0.40811	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CCG		0.463	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		108	105	0	0	0	1	0	108	105					A	64148708	G	A	64148708	3	1	468	1	0	0	0	0	1	0	0	0	12487	1116	39	1	2316	1	PRICKLE2	3	64148708	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		64148708	133873722	9	38603											
CENPE	1062	broad.mit.edu	37	chr4	104061011	104061013	+	In_Frame_Del	DEL	TCC	TCC	-													cattttgagagattcttttaTcctccttagctcatctcttt							TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:104061011_104061013delTCC	ENST00000265148.3	-	38	6226_6228	c.6137_6139delGGA	c.(6136-6141)aggata>ata	p.R2046del	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2046					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)		GATTCTTTTATCCTCCTTAGCTC	0.36																																						ENST00000265148.3																			0				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						c.(6136-6141)ata>a		centromere protein E, 312kDa																																				SO:0001651	inframe_deletion	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104061011_104061013delTCC	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.6137_6139delGGA	4.37:g.104061014_104061016delTCC	ENSP00000265148:p.Arg2046del					CENPE_ENST00000380026.3_Intron	p.RI2046del	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6226_6228	-			2046					A6NKY9|A8K2U7|Q4LE75	In_Frame_Del	DEL	ENST00000265148.3	37	c.6137_6139delGGA	CCDS34042.1																																																																																				0.36	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				30	49						30	49	---	---	---	---	-	104061013	TCC	-	104061011	7	5	468	1	0	1	0	1	0	0	0	0	3230	1435	50	0	2014	0	CENPE	4	104061011	In_Frame_Del	DEL	TCC	TCGA-TM-A84G-01A-11D-A36O-08		104061011	87093265	10	38604											
EGF	1950	broad.mit.edu	37	chr4	110932525	110932525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacccttgaagggggtgtcGagaagccccattctctccta	11	12	1	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:110932525G>A	ENST00000265171.5	+	24	3983	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	EGF_ENST00000503392.1_Missense_Mutation_p.E1139K|EGF_ENST00000509793.1_Missense_Mutation_p.E1138K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1180					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AGGGGGTGTCGAGAAGCCCCA	0.512																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3538-3540)Gag>Aag		epidermal growth factor	Sulindac(DB00605)						100	105	104					4																	110932525		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932525G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3538G>A	4.37:g.110932525G>A	ENSP00000265171:p.Glu1180Lys					EGF_ENST00000503392.1_Missense_Mutation_p.E1139K|EGF_ENST00000509793.1_Missense_Mutation_p.E1138K	p.E1180K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	3983	+		Hepatocellular(203;0.0893)	1180					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.3538G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198707	0.22121	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.90004	-2.6;-2.51;-2.37	3.85	-0.239	0.13050	.	0.622990	0.14624	N	0.308240	T	0.78817	0.4343	L	0.29908	0.895	0.09310	N	1	B;B;B	0.27971	0.0;0.001;0.196	B;B;B	0.21708	0.001;0.002;0.036	T	0.66135	-0.5999	10	0.56958	D	0.05	.	6.0472	0.19766	0.2007:0.2858:0.5135:0.0	.	1139;1138;1180	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	K	1138;1180;1139	ENSP00000424316:E1138K;ENSP00000265171:E1180K;ENSP00000421384:E1139K	ENSP00000265171:E1180K	E	+	1	0	EGF	111151974	0.111000	0.22076	0.000000	0.03702	0.002000	0.02628	0.118000	0.15605	-0.354000	0.08212	-2.443000	0.00211	GAG		0.512	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			46	58	0	0	0	1	0	46	58					A	110932525	G	A	110932525	3	1	468	1	0	0	0	0	1	0	0	0	4962	1059	37	1	3632	1	EGF	4	110932525	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	6871514	110932525	80221751	11	38605											
CDH18	1016	broad.mit.edu	37	chr5	19520806	19520806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatacaataatatcatatTccctggcaagttcgggtgga	8	9	1	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr5:19520806T>C	ENST00000507958.1	-	12	2462	c.1472A>G	c.(1471-1473)gAa>gGa	p.E491G	CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000274170.4_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G|CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G			Q13634	CAD18_HUMAN	cadherin 18, type 2	491	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATATCATATTCCCTGGCAAG	0.388																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1471-1473)gAa>gGa		cadherin 18, type 2							118	120	119					5																	19520806		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520806T>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1472A>G	5.37:g.19520806T>C	ENSP00000425093:p.Glu491Gly					CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G|CDH18_ENST00000274170.4_Missense_Mutation_p.E491G	p.E491G			Q13634	CAD18_HUMAN			12	2462	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		491			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1472A>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.976078	0.34848	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.22	5.22	0.72569	Cadherin (2);Cadherin-like (1);	0.149864	0.64402	D	0.000016	T	0.55449	0.1921	M	0.62723	1.935	0.51482	D	0.999928	B;B	0.27380	0.177;0.136	B;B	0.29524	0.103;0.097	T	0.53322	-0.8455	9	.	.	.	.	14.212	0.65771	0.0:0.0:0.0:1.0	.	491;491	B4DHG6;Q13634	.;CAD18_HUMAN	G	491	ENSP00000371710:E491G;ENSP00000425093:E491G;ENSP00000274170:E491G;ENSP00000424931:E491G;ENSP00000422138:E491G;ENSP00000425854:E491G	.	E	-	2	0	CDH18	19556563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.616000	0.74205	2.102000	0.63906	0.528000	0.53228	GAA		0.388	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		46	49	0	0	0	1	0	46	49					C	19520806	T	C	19520806	3	2	468	1	0	0	0	0	1	0	0	0	3103	1783	62	3	916	3	CDH18	5	19520806	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		19520806	161394454	12	38606											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825143	34825143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagtaaaaagccatctaCactcctttcctgcagtcgga	7	13	1	0	rs200888244		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:34825143C>T	ENST00000192788.5	+	12	1640	c.1469C>T	c.(1468-1470)aCa>aTa	p.T490I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	490							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						AAGCCATCTACACTCCTTTCC	0.438																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1468-1470)aCa>aTa		UHRF1 binding protein 1		C	ILE/THR	5,3757		0,5,1876	116	110	112		1469	5.3	0.9	6		112	0,8234		0,0,4117	yes	missense	UHRF1BP1	NM_017754.3	89	0,5,5993	TT,TC,CC		0.0,0.1329,0.0417	probably-damaging	490/1441	34825143	5,11991	1881	4117	5998	SO:0001583	missense	54887							g.chr6:34825143C>T	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.1469C>T	6.37:g.34825143C>T	ENSP00000192788:p.Thr490Ile					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I	p.T490I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			12	1640	+			490					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1469C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439453	0.83885	0.001329	0.0	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09163	3.01;3.01	5.28	5.28	0.74379	.	0.120764	0.56097	D	0.000023	T	0.21590	0.0520	L	0.58101	1.795	0.44587	D	0.997551	D	0.69078	0.997	D	0.63033	0.91	T	0.00403	-1.1761	10	0.72032	D	0.01	-6.609	19.1041	0.93285	0.0:1.0:0.0:0.0	.	490	Q6BDS2	URFB1_HUMAN	I	490	ENSP00000192788:T490I;ENSP00000400628:T490I	ENSP00000192788:T490I	T	+	2	0	UHRF1BP1	34933121	0.862000	0.29867	0.939000	0.37840	0.959000	0.62525	5.762000	0.68809	2.758000	0.94735	0.563000	0.77884	ACA		0.438	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		19	75	0	0	0	1	0	19	75					T	34825143	C	T	34825143	3	4	468	1	0	0	0	0	1	0	0	0	16965	478	17	2	1515	2	UHRF1BP1	6	34825143	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		34825143	136289924	13	38607											
TPBG	7162	broad.mit.edu	37	chr6	83075811	83075811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggttttgtatttgaaccGcaaggggataaaaaagtgga	12	5	0	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:83075811G>A	ENST00000369750.3	+	2	1750	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	378					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TATTTGAACCGCAAGGGGATA	0.453																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(1132-1134)cGc>cAc		trophoblast glycoprotein							91	92	92					6																	83075811		2203	4300	6503	SO:0001583	missense	7162				cell adhesion	integral to plasma membrane		g.chr6:83075811G>A	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1133G>A	6.37:g.83075811G>A	ENSP00000358765:p.Arg378His					TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H	p.R378H			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1750	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	378					A8K555	Missense_Mutation	SNP	ENST00000369750.3	37	c.1133G>A	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912929	0.92178	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	T;T;T	0.64438	-0.1;-0.1;-0.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.75741	-0.3211	10	0.87932	D	0	-19.6783	20.3736	0.98901	0.0:0.0:1.0:0.0	.	378	Q13641	TPBG_HUMAN	H	378	ENSP00000441219:R378H;ENSP00000358765:R378H;ENSP00000440049:R378H	ENSP00000358765:R378H	R	+	2	0	TPBG	83132530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	CGC		0.453	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			52	45	0	0	0	1	0	52	45					A	83075811	G	A	83075811	3	1	468	1	0	0	0	0	1	0	0	0	16391	1087	38	1	1135	1	TPBG	6	83075811	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	48250668	83075811	88039256	14	38608											
GOPC	57120	broad.mit.edu	37	chr6	117892068	117892068	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttccttaaggaggagAacttttctaattggaccaac	8	8	2	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:117892068A>T	ENST00000368498.2	-	6	942	c.867T>A	c.(865-867)gtT>gtA	p.V289V	GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000535237.1_Silent_p.V289V|GOPC_ENST00000467125.1_5'UTR	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	289	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TAAGGAGGAGAACTTTTCTAA	0.343			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(865-867)gtT>gtA		golgi-associated PDZ and coiled-coil motif containing							141	138	139					6																	117892068		2203	4300	6503	SO:0001819	synonymous_variant	57120							g.chr6:117892068A>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.867T>A	6.37:g.117892068A>T						GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000368498.2_Silent_p.V289V|GOPC_ENST00000467125.1_5'UTR	p.V289V						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	6	1096	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.867T>A	CCDS5117.1																																																																																				0.343	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		11	56	0	0	0	1	0	11	56					T	117892068	A	T	117892068	2	4	468	1	0	0	0	0	0	0	0	1	6573	233	9	5		5	GOPC	6	117892068	Silent	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	34816257	117892068	53222999	15	38609											
TG	7038	broad.mit.edu	37	chr8	133911126	133911126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaagaaaacccatctccaAaagacctgttcgtcccagcc	5	17	1	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr8:133911126A>G	ENST00000220616.4	+	14	3341	c.3301A>G	c.(3301-3303)Aaa>Gaa	p.K1101E	TG_ENST00000377869.1_Missense_Mutation_p.K1101E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1101	Thyroglobulin type-1 9. {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)		CCCATCTCCAAAAGACCTGTT	0.527																																						ENST00000220616.4																			0				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						c.(3301-3303)Aaa>Gaa		thyroglobulin							68	57	61					8																	133911126		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133911126A>G	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.3301A>G	8.37:g.133911126A>G	ENSP00000220616:p.Lys1101Glu					TG_ENST00000377869.1_Missense_Mutation_p.K1101E	p.K1101E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	14	3341	+	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)	1101			Thyroglobulin type-1 9.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3301A>G	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.503|5.503	0.277803|0.277803	0.10403|0.10403	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000543313	T;T|.	0.62639|.	0.01;0.01|.	5.74|5.74	-2.24|-2.24	0.06909|0.06909	Thyroglobulin type-1 (4);|.	1.068030|1.068030	0.07151|0.07151	N|N	0.849056|0.849056	T|T	0.34978|0.34978	0.0916|0.0916	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.41556|0.41556	-0.9502|-0.9502	10|6	0.06236|.	T|.	0.91|.	.|.	13.0643|13.0643	0.59024|0.59024	0.3411:0.0:0.6589:0.0|0.3411:0.0:0.6589:0.0	.|.	1101|.	P01266|.	THYG_HUMAN|.	E|R	1101|8	ENSP00000367100:K1101E;ENSP00000220616:K1101E|.	ENSP00000220616:K1101E|.	K|K	+|+	1|2	0|0	TG|TG	133980308|133980308	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.911000|0.911000	0.54048|0.54048	-0.232000|-0.232000	0.09055|0.09055	-0.315000|-0.315000	0.08703|0.08703	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	14	0	0	0	1	0	8	14					G	133911126	A	G	133911126	3	3	468	1	0	0	0	0	1	0	0	0	15810	15	1	3	3355	3	TG	8	133911126	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		133911126	12452896	16	38610											
FLJ46321	389763	broad.mit.edu	37	chr9	84609657	84609657	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcataggcatgggatagaTatcacctgtccccaagagcc	12	11	1	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr9:84609657T>C	ENST00000344803.2	+	4	4319	c.4272T>C	c.(4270-4272)gaT>gaC	p.D1424D		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1424					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGGGATAGATATCACCTGTC	0.517																																						ENST00000344803.2																			0											c.(4270-4272)gaT>gaC		SPATA31 subfamily D, member 1							39	38	38					9																	84609657		1892	4120	6012	SO:0001819	synonymous_variant	389763							g.chr9:84609657T>C		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.4272T>C	9.37:g.84609657T>C							p.D1424D	NM_001001670.2	NP_001001670.1					4	4319	+									Silent	SNP	ENST00000344803.2	37	c.4272T>C	CCDS47986.1																																																																																				0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		13	19	0	0	0	1	0	13	19					C	84609657	T	C	84609657	2	2	468	1	0	0	0	0	0	0	0	1	5932	1403	49	3		3	FLJ46321	9	84609657	Silent	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		84609657	56603774	17	38611											
NOTCH1	4851	broad.mit.edu	37	chr9	139401808	139401808	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggggaggtcgaggcAggtgcccccgttctggcagg	20	9	1	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr9:139401808A>T	ENST00000277541.6	-	22	3667	c.3592T>A	c.(3592-3594)Tgc>Agc	p.C1198S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1198	EGF-like 31; 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)		AGGTCGAGGCAGGTGCCCCCG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(3592-3594)Tgc>Agc		notch 1							27	35	32					9																	139401808		2024	4162	6186	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401808A>T	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.3592T>A	9.37:g.139401808A>T	ENSP00000277541:p.Cys1198Ser	HNSCC(8;0.001)					p.C1198S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3667	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1198			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3592T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.028053	0.93518	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.43	5.43	0.79202	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99995	1.5212	10	0.87932	D	0	.	14.636	0.68689	1.0:0.0:0.0:0.0	.	1198	P46531	NOTC1_HUMAN	S	1198	ENSP00000277541:C1198S	ENSP00000277541:C1198S	C	-	1	0	NOTCH1	138521629	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.847000	0.92166	2.048000	0.60808	0.533000	0.62120	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	2	0	0	0	1	0	14	2					T	139401808	A	T	139401808	3	4	468	1	0	0	0	0	1	0	0	0	10547	188	7	5	4127	5	NOTCH1	9	139401808	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	54792151	139401808	1811623	18	38612											
PTCHD3	374308	broad.mit.edu	37	chr10	27688135	27688135	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttggtcttatgccaggcAgaaatcatgataaacatgtc	10	7	2	2	rs567074756		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr10:27688135A>G	ENST00000438700.3	-	4	1509	c.1392T>C	c.(1390-1392)tcT>tcC	p.S464S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	464	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCCAGGCAGAAATCATGA	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		12844	0.0		0.001	False		,,,				2504	0.0					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1390-1392)tcT>tcC		patched domain containing 3							67	59	62					10																	27688135		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688135A>G	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1392T>C	10.37:g.27688135A>G							p.S464S	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			4	1509	-			464			SSD.		I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1392T>C	CCDS31173.1																																																																																				0.368	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		24	42	0	0	0	1	0	24	42					G	27688135	A	G	27688135	2	3	468	1	0	0	0	0	0	0	0	1	12734	175	7	3		3	PTCHD3	10	27688135	Silent	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		27688135	107846612	19	38613											
SHANK2	22941	broad.mit.edu	37	chr11	70507707	70507707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgctcttacctttggCccctcgaagcacgaatccaa	9	15	1	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr11:70507707C>T	ENST00000423696.2	-	6	829	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T|SHANK2_ENST00000338508.4_Missense_Mutation_p.A645T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T|SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	265	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTACCTTTGGCCCCTCGAAGC	0.502																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1933-1935)Gcc>Acc		SH3 and multiple ankyrin repeat domains 2							152	132	139					11																	70507707		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507707C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.793G>A	11.37:g.70507707C>T	ENSP00000394536:p.Ala265Thr					SHANK2_ENST00000423696.2_Missense_Mutation_p.A265T|SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T	p.A645T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	1932	-			265					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.1933G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.193142|5.193142	0.94960|0.94960	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000412252	T;T;T;T;T;T;T;T|T	0.27104|0.32515	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69|1.45	4.76|4.76	4.76|4.76	0.60689|0.60689	PDZ/DHR/GLGF (4);|.	0.189156|.	0.44902|.	D|.	0.000403|.	T|T	0.44603|0.44603	0.1301|0.1301	L|L	0.46885|0.46885	1.475|1.475	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|.	0.91635|.	0.999;0.999;0.999;0.994|.	T|T	0.44877|0.44877	-0.9299|-0.9299	10|7	0.72032|0.87932	D|D	0.01|0	.|.	17.7826|17.7826	0.88528|0.88528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	56;265;644;56|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.	.;SHAN2_HUMAN;.;.|.	T|D	56;55;645;265;279;275;55;56;56|54	ENSP00000399423:A56T;ENSP00000386491:A55T;ENSP00000345193:A645T;ENSP00000394536:A265T;ENSP00000294018:A275T;ENSP00000387324:A55T;ENSP00000394939:A56T;ENSP00000349694:A56T|ENSP00000414876:G54D	ENSP00000294018:A275T|ENSP00000414876:G54D	A|G	-|-	1|2	0|0	SHANK2|SHANK2	70185355|70185355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.049000|7.049000	0.76613|0.76613	2.189000|2.189000	0.69895|0.69895	0.491000|0.491000	0.48974|0.48974	GCC|GGC		0.502	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	111	0	0	0	1	0	4	111					T	70507707	C	T	70507707	3	4	468	1	0	0	0	0	1	0	0	0	14265	739	26	2	3663	2	SHANK2	11	70507707	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		70507707	64498809	20	38614											
A2ML1	144568	broad.mit.edu	37	chr12	9020559	9020559	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgcacattcaacatacagtCagttaacagattggtatttc	7	9	2	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:9020559C>T	ENST00000299698.7	+	30	4019	c.3839C>T	c.(3838-3840)tCa>tTa	p.S1280L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L	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						AACATACAGTCAGTTAACAGA	0.488																																						ENST00000299698.7																			0				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						c.(3838-3840)tCa>tTa		alpha-2-macroglobulin-like 1							123	117	119					12																	9020559		1982	4153	6135	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020559C>T	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.3839C>T	12.37:g.9020559C>T	ENSP00000299698:p.Ser1280Leu					A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L	p.S1280L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			30	4019	+			1124						Missense_Mutation	SNP	ENST00000299698.7	37	c.3839C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	0.825	-0.747146	0.03065	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.33216	1.42;1.54;2.09	3.54	2.64	0.31445	.	0.687401	0.12733	N	0.443685	T	0.25568	0.0622	L	0.54323	1.7	0.09310	N	1	B	0.14438	0.01	B	0.20184	0.028	T	0.19778	-1.0295	10	0.30854	T	0.27	.	4.5806	0.12257	0.3201:0.5672:0.0:0.1127	.	1280	A8K2U0	A2ML1_HUMAN	L	1280;1280;830;789	ENSP00000299698:S1280L;ENSP00000443174:S830L;ENSP00000438292:S789L	ENSP00000299698:S1280L	S	+	2	0	A2ML1	8911826	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.050000	0.11904	1.050000	0.40346	0.561000	0.74099	TCA		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		33	42	0	0	0	1	0	33	42					T	9020559	C	T	9020559	3	4	468	1	0	0	0	0	1	0	0	0	5	838	29	2	3957	2	A2ML1	12	9020559	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		9020559	124831336	21	38615											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860025	42860025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaggtttcacagtacTccgcatagagagactcaaaa	7	13	2	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:42860025T>C	ENST00000455697.1	-	6	1031	c.746A>G	c.(745-747)gAg>gGg	p.E249G	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	249	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTCACAGTACTCCGCATAGAG	0.512																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(745-747)gAg>gGg		prickle homolog 1 (Drosophila)							76	74	75					12																	42860025		2203	4300	6503	SO:0001583	missense	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42860025T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.746A>G	12.37:g.42860025T>C	ENSP00000401060:p.Glu249Gly					PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G	p.E249G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	6	1031	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		249			LIM zinc-binding 2.|LIM zinc-binding 3.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.746A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.014186	0.93404	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.045300	0.85682	D	0.000000	D	0.93716	0.7992	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.94645	0.7834	10	0.72032	D	0.01	0.651	15.3353	0.74247	0.0:0.0:0.0:1.0	.	249	Q96MT3	PRIC1_HUMAN	G	249	ENSP00000401060:E249G;ENSP00000398947:E249G;ENSP00000448359:E249G;ENSP00000345064:E249G;ENSP00000449819:E249G	ENSP00000345064:E249G	E	-	2	0	PRICKLE1	41146292	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	GAG		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			27	3	0	0	0	1	0	27	3					C	42860025	T	C	42860025	3	2	468	1	0	0	0	0	1	0	0	0	12486	1551	54	3	1761	3	PRICKLE1	12	42860025	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08	33839466	42860025	90991870	22	38616											
OR10AD1	121275	broad.mit.edu	37	chr12	48596567	48596567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctatgtggttgtctctgCggaagggctctcggaatgaa	13	7	3	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:48596567C>T	ENST00000310248.2	-	1	603	c.509G>A	c.(508-510)cGc>cAc	p.R170H		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	170						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(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GTTGTCTCTGCGGAAGGGCTC	0.502																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(508-510)cGc>cAc		olfactory receptor, family 10, subfamily AD, member 1							50	42	45					12																	48596567		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596567C>T		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"GPCR / Class A : Olfactory receptors"	14819	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily AD, member 1 pseudogene"	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.509G>A	12.37:g.48596567C>T	ENSP00000308689:p.Arg170His						p.R170H	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	603	-			170					B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.509G>A	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744279	0.30865	.	.	ENSG00000172640	ENST00000310248	T	0.00091	8.74	4.83	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000710	T	0.00109	0.0003	N	0.20574	0.59	0.26846	N	0.968266	P	0.35033	0.481	B	0.17433	0.018	T	0.37103	-0.9720	10	0.72032	D	0.01	-10.0205	11.2157	0.48825	0.0:0.9099:0.0:0.0901	.	170	Q8NGE0	O10AD_HUMAN	H	170	ENSP00000308689:R170H	ENSP00000308689:R170H	R	-	2	0	OR10AD1	46882834	1.000000	0.71417	0.887000	0.34795	0.146000	0.21551	5.675000	0.68123	1.407000	0.46875	0.561000	0.74099	CGC		0.502	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			7	18	0	0	0	1	0	7	18					T	48596567	C	T	48596567	3	4	468	1	0	0	0	0	1	0	0	0	10896	768	27	1	448	1	OR10AD1	12	48596567	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	5736542	48596567	85255328	23	38617											
RXFP2	122042	broad.mit.edu	37	chr13	32367130	32367131	+	Frame_Shift_Ins	INS	-	-	A													tggaataaggattattttggINSaaacttttatgggaaaaatg							TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr13:32367130_32367131insA	ENST00000298386.2	+	16	1762_1763	c.1691_1692insA	c.(1690-1695)ggaaacfs	p.N565fs	RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.N541fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	565					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATTATTTTGGAAACTTTTATG	0.366																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1690-1692)gaafs		relaxin/insulin-like family peptide receptor 2																																				SO:0001589	frameshift_variant	122042					integral to membrane|plasma membrane		g.chr13:32367130_32367131insA	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1694dupA	13.37:g.32367133_32367133dupA	ENSP00000298386:p.Asn565fs					RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.E540fs	p.E564fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1762_1763	+		Lung SC(185;0.0262)	564					B1ALE9|Q3KU23	Frame_Shift_Ins	INS	ENST00000298386.2	37	c.1691_1692insA	CCDS9342.1																																																																																				0.366	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		32	50						32	50	---	---	---	---	A	32367131	-	A	32367130	7	5	468	1	0	1	1	0	0	0	0	0	13760	1174	41	0	1753	0	RXFP2	13	32367130	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08		32367130	82802748	24	38618											
LRRK1	79705	broad.mit.edu	37	chr15	101589864	101589864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtgtggaatcttccgaCgtgaactggaaaaagaagaa	12	6	1	3	rs371351101		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr15:101589864C>T	ENST00000388948.3	+	23	3674	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D	LRRK1_ENST00000284395.5_Silent_p.D1102D|RP11-505E24.3_ENST00000558979.1_RNA|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)			AATCTTCCGACGTGAACTGGA	0.507																																						ENST00000284395.5																			0				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						c.(3304-3306)gaC>gaT		leucine-rich repeat kinase 1		C		2,3756		0,2,1877	90	93	92		3315	-10.3	0	15		92	0,8226		0,0,4113	no	coding-synonymous	LRRK1	NM_024652.3		0,2,5990	TT,TC,CC		0.0,0.0532,0.0167		1105/2016	101589864	2,11982	1879	4113	5992	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101589864C>T	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.3315C>T	15.37:g.101589864C>T						LRRK1_ENST00000388948.3_Silent_p.D1105D	p.D1102D			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		24	3706	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1105						Silent	SNP	ENST00000388948.3	37	c.3306C>T	CCDS42086.1																																																																																				0.507	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		27	26	0	0	0	1	0	27	26					T	101589864	C	T	101589864	2	4	468	1	0	0	0	0	0	0	0	1	9032	535	19	1		1	LRRK1	15	101589864	Silent	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		101589864	941528	25	38619											
CACNA1H	8912	broad.mit.edu	37	chr16	1270872	1270872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagagcctcccatgcccGtcggtgaccccccagagaag	10	16	1	3	rs370867825		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1270872G>A	ENST00000348261.5	+	35	7188	c.6940G>A	c.(6940-6942)Gtc>Atc	p.V2314I	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2314					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)	TCCCATGCCCGTCGGTGACCC	0.642																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6940-6942)Gtc>Atc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)		ILE/VAL,ILE/VAL	2,3676		0,2,1837	65	72	70		6940,6922	-3.1	0	16		70	0,8170		0,0,4085	no	missense,missense	CACNA1H	NM_021098.2,NM_001005407.1	29,29	0,2,5922	AA,AG,GG		0.0,0.0544,0.0169	benign,benign	2314/2354,2308/2348	1270872	2,11846	1839	4085	5924	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270872G>A	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.6940G>A	16.37:g.1270872G>A	ENSP00000334198:p.Val2314Ile					CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I	p.V2314I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	7188	+		Hepatocellular(780;0.00369)	2314					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6940G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	3.411	-0.120263	0.06838	5.44E-4	0.0	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96334	-3.98;-3.93	3.85	-3.11	0.05299	.	3.892820	0.00691	N	0.000737	D	0.88555	0.6468	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.20988	0.05;0.05;0.05;0.02;0.05	B;B;B;B;B	0.12156	0.005;0.007;0.007;0.001;0.005	T	0.79543	-0.1760	10	0.54805	T	0.06	.	0.3993	0.00423	0.2879:0.2888:0.1617:0.2616	.	1060;1038;1044;2308;2314	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	I	2314;2308	ENSP00000334198:V2314I;ENSP00000351401:V2308I	ENSP00000334198:V2314I	V	+	1	0	CACNA1H	1210873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.355000	0.02612	-0.971000	0.03564	-1.758000	0.00672	GTC		0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		38	47	0	0	0	1	0	38	47					A	1270872	G	A	1270872	3	1	468	1	0	0	0	0	1	0	0	0	2545	1145	40	1	7074	1	CACNA1H	16	1270872	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		1270872	89083881	26	38620											
PTX4	390667	broad.mit.edu	37	chr16	1536429	1536429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcattgtcctcggtggcGtaggacaggagggtgcccag	16	9	1	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1536429G>A	ENST00000447419.2	-	3	973	c.948C>T	c.(946-948)taC>taT	p.Y316Y	PTX4_ENST00000293922.1_Silent_p.Y311Y|PTX4_ENST00000440447.2_Missense_Mutation_p.T168M			Q96A99	PTX4_HUMAN	pentraxin 4, long	316	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						CCTCGGTGGCGTAGGACAGGA	0.667																																						ENST00000440447.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(502-504)aCg>aTg		pentraxin 4, long							52	61	58					16																	1536429		2198	4300	6498	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1536429G>A		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.948C>T	16.37:g.1536429G>A						PTX4_ENST00000447419.2_Silent_p.Y316Y|PTX4_ENST00000293922.1_Silent_p.Y311Y	p.T168M			Q96A99	PTX4_HUMAN			3	574	-			0						Missense_Mutation	SNP	ENST00000447419.2	37	c.503C>T																																																																																					0.667	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		33	30	0	0	0	1	0	33	30					A	1536429	G	A	1536429	2	1	468	1	0	0	0	0	0	0	0	1	12823	1140	40	1		1	PTX4	16	1536429	Silent	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	265557	1536429	88818324	27	38621											
ATXN2L	11273	broad.mit.edu	37	chr16	28834658	28834659	+	Frame_Shift_Ins	INS	-	-	C													aacaggccgtggcccgtcggINSccccccgggggcaccagccc							TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:28834658_28834659insC	ENST00000336783.4	+	1	245_246	c.78_79insC	c.(79-81)cccfs	p.P27fs	ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P27fs|RP11-1348G14.5_ENST00000568183.1_RNA|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P27fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	27	Pro-rich.				regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCCCGTCGGCCCCCCGGGGG	0.762																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(76-81)cgccccfs		ataxin 2-like																																				SO:0001589	frameshift_variant	11273					membrane		g.chr16:28834658_28834659insC		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.84dupC	16.37:g.28834664_28834664dupC	ENSP00000338718:p.Pro27fs					ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.RP26fs	p.RP26fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			1	245_246	+			26			Pro-rich.		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Ins	INS	ENST00000336783.4	37	c.78_79insC	CCDS10641.1																																																																																				0.762	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		2	4						2	4	---	---	---	---	C	28834659	-	C	28834658	7	5	468	1	0	1	1	0	0	0	0	0	1212	1190	42	0	80	0	ATXN2L	16	28834658	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08	27298229	28834658	61520095	28	38622											
IRF8	3394	broad.mit.edu	37	chr16	85942758	85942758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catacaaagtttaccgaattGttcctgaggaagagcaaaaa	8	7	0	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:85942758G>T	ENST00000268638.5	+	3	759	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	IRF8_ENST00000563180.1_Missense_Mutation_p.V113F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	113					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TTACCGAATTGTTCCTGAGGA	0.493																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(337-339)Gtt>Ttt		interferon regulatory factor 8							54	53	54					16																	85942758		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85942758G>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.337G>T	16.37:g.85942758G>T	ENSP00000268638:p.Val113Phe					IRF8_ENST00000563180.1_Missense_Mutation_p.V113F	p.V113F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			3	759	+		Prostate(104;0.0771)	113					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.337G>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731692	0.69189	.	.	ENSG00000140968	ENST00000268638	D	0.97959	-4.63	5.27	4.31	0.51392	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.058883	0.64402	D	0.000002	D	0.98175	0.9397	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	D	0.98737	1.0715	10	0.66056	D	0.02	-29.1116	13.7247	0.62750	0.0746:0.0:0.9254:0.0	.	113;113	B2R8V7;Q02556	.;IRF8_HUMAN	F	113	ENSP00000268638:V113F	ENSP00000268638:V113F	V	+	1	0	IRF8	84500259	1.000000	0.71417	0.997000	0.53966	0.712000	0.41017	6.298000	0.72763	1.228000	0.43614	0.555000	0.69702	GTT		0.493	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		20	27	1	0	9.95505e-16	1	1.01394e-15	20	27					T	85942758	G	T	85942758	3	4	468	1	0	0	0	0	1	0	0	0	7836	1377	48	4	343	4	IRF8	16	85942758	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	57108100	85942758	4411995	29	38623											
HSD11B1L	374875	broad.mit.edu	37	chr19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-													gccgcggcagcctgagcaccGgggggtgcccctccagtccc							TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr19:5687962delG	ENST00000423665.2	+	8	954	c.704delG	c.(703-705)cggfs	p.R235fs	HSD11B1L_ENST00000301382.4_3'UTR|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000581521.1_3'UTR|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000347512.3_5'Flank|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000577917.1_Frame_Shift_Del_p.R154fs|RPL36_ENST00000579446.1_5'Flank|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000583928.1_3'UTR|HSD11B1L_ENST00000342970.2_3'UTR|HSD11B1L_ENST00000581893.1_3'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_3'UTR|RPL36_ENST00000394580.2_5'Flank	NM_198533.2	NP_940935.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	235						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)										CCTGAGCACCGGGGGGTGCCC	0.682																																						ENST00000577917.1																			0											c.(460-462)cgfs		hydroxysteroid (11-beta) dehydrogenase 1-like							11	15	14					19																	5687962		1996	4100	6096	SO:0001589	frameshift_variant	374875					extracellular region	binding|oxidoreductase activity	g.chr19:5687962delG	AY268353	CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1	19p13.3	2011-09-20				ENSG00000167733	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30419	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase 10", "short chain dehydrogenase/reductase family 26C, member 2"					12477932	Standard	NM_001267868		Approved	SCDR10, SDR26C2	uc010dug.4	Q7Z5J1		ENST00000423665.2:c.704delG	19.37:g.5687962delG	ENSP00000407154:p.Arg235fs					HSD11B1L_ENST00000342970.2_3'UTR|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000423665.2_Frame_Shift_Del_p.R235fs|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_3'UTR|HSD11B1L_ENST00000581773.1_3'UTR|HSD11B1L_ENST00000301382.4_3'UTR|HSD11B1L_ENST00000581521.1_3'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000583928.1_3'UTR	p.R154fs	NM_001267871.1|NM_198705.2|NM_198708.2	NP_001254800.1|NP_941994.1|NP_941997.1	Q7Z5J1	DHI1L_HUMAN			6	982	+			235					Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8	Frame_Shift_Del	DEL	ENST00000423665.2	37	c.461delG	CCDS45931.1																																																																																				0.682	HSD11B1L-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000442573.1	NM_198706		2	4						2	4	---	---	---	---	-	5687962	G	-	5687962	7	5	468	1	0	1	0	1	0	0	0	0	7376	1116	39	0	893	0	HSD11B1L	19	5687962	Frame_Shift_Del	DEL	G	TCGA-TM-A84G-01A-11D-A36O-08		5687962	53441021	30	38624											
SPTLC3	55304	broad.mit.edu	37	chr20	13071766	13071766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaggagttggaggaccttGtggctaagttcctgaatgtg	14	6	0	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13071766G>T	ENST00000399002.2	+	5	917	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	215					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						GGAGGACCTTGTGGCTAAGTT	0.428																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(643-645)Gtg>Ttg		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						164	166	166					20																	13071766		1929	4127	6056	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13071766G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.643G>T	20.37:g.13071766G>T	ENSP00000381968:p.Val215Leu					SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L	p.V215L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			5	917	+			215					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.643G>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103136	0.56183	.	.	ENSG00000172296	ENST00000399002;ENST00000378194	D;D	0.92495	-3.05;-3.05	5.44	0.566	0.17317	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.394153	0.28273	N	0.015956	T	0.79592	0.4472	N	0.11023	0.085	0.42686	D	0.99356	B	0.23806	0.091	B	0.28991	0.097	T	0.62369	-0.6869	10	0.30854	T	0.27	-3.8492	2.8425	0.05534	0.1862:0.1332:0.543:0.1375	.	215	Q9NUV7	SPTC3_HUMAN	L	215	ENSP00000381968:V215L;ENSP00000367436:V215L	ENSP00000367436:V215L	V	+	1	0	SPTLC3	13019766	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	2.976000	0.49289	-0.124000	0.11724	-0.151000	0.13558	GTG		0.428	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		50	53	1	0	2.81731e-22	1	2.97984e-22	50	53					T	13071766	G	T	13071766	3	4	468	1	0	0	0	0	1	0	0	0	15124	1377	48	4	661	4	SPTLC3	20	13071766	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		13071766	49953754	31	38625											
ISM1	140862	broad.mit.edu	37	chr20	13260457	13260457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacgacagtacctcagaCgacagcaacttcctcaaccc	6	15	2	1	rs377766422		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	185						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(553-555)gaC>gaT		isthmin 1, angiogenesis inhibitor		C		0,3820		0,0,1910	61	70	67		555	-12.1	0.4	20		67	1,8231		0,1,4115	no	coding-synonymous	ISM1	NM_080826.1		0,1,6025	TT,TC,CC		0.0121,0.0,0.0083		185/465	13260457	1,12051	1910	4116	6026	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13260457C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.555C>T	20.37:g.13260457C>T						TASP1_ENST00000539805.1_Intron	p.D185D	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			3	561	+			185					Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.555C>T	CCDS46579.1																																																																																				0.597	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			15	33	0	0	0	1	0	15	33					T	13260457	C	T	13260457	2	4	468	1	0	0	0	0	0	0	0	1	7860	535	19	1		1	ISM1	20	13260457	Silent	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	188691	13260457	49765063	32	38626											
ICOSLG	23308	broad.mit.edu	37	chr21	45651187	45651187	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtgttggaggcatcGgtccctgcacacccagccta	11	13	0	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr21:45651187G>A	ENST00000407780.3	-	5	965	c.838C>T	c.(838-840)Cga>Tga	p.R280*	ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	280					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGAGGCATCGGTCCCTGCAC	0.562																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(838-840)Cga>Tga		inducible T-cell co-stimulator ligand							76	82	80					21																	45651187		2143	4244	6387	SO:0001587	stop_gained	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45651187G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.838C>T	21.37:g.45651187G>A	ENSP00000384432:p.Arg280*					ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280*	p.R280*			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	5	965	-			280					A8MUZ1|Q9HD18|Q9NRQ1	Nonsense_Mutation	SNP	ENST00000407780.3	37	c.838C>T	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144880	0.57044	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	.	.	.	2.28	-0.344	0.12628	.	0.351848	0.23560	N	0.046864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3203	6.6207	0.22802	0.0:0.0:0.5261:0.4739	.	.	.	.	X	280;280;280;163	.	ENSP00000339477:R280X	R	-	1	2	ICOSLG	44475615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.065000	0.13021	-0.266000	0.10368	CGA		0.562	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		21	26	0	0	0	1	0	21	26					A	45651187	G	A	45651187	4	1	468	1	0	0	0	0	0	1	0	0	7487	1124	39	1	82	1	ICOSLG	21	45651187	Nonsense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		45651187	2478708	33	38627											
SYAP1	94056	broad.mit.edu	37	chrX	16773205	16773205	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatggcagagagcaagattTgccgctggcaggtatattct	12	8	1	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:16773205T>A	ENST00000380155.3	+	6	806	c.713T>A	c.(712-714)tTg>tAg	p.L238*		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	238						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAGCAAGATTTGCCGCTGGCA	0.517																																						ENST00000380155.3																			0				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10						c.(712-714)tTg>tAg		synapse associated protein 1							65	61	62					X																	16773205		2203	4300	6503	SO:0001587	stop_gained	94056							g.chrX:16773205T>A	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"SAP47 homolog (Drosophila)"					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.713T>A	X.37:g.16773205T>A	ENSP00000369500:p.Leu238*						p.L238*	NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN			6	806	+	Hepatocellular(33;0.0997)		238					Q68CP1|Q96C60|Q96JQ6|Q96T20	Nonsense_Mutation	SNP	ENST00000380155.3	37	c.713T>A	CCDS14177.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598087	0.66332	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.11	1.01	0.19927	.	1.266050	0.05152	N	0.496213	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-1.4608	1.3719	0.02213	0.1424:0.2938:0.1438:0.4199	.	.	.	.	X	238	.	ENSP00000369500:L238X	L	+	2	0	SYAP1	16683126	0.013000	0.17824	0.011000	0.14972	0.002000	0.02628	-0.159000	0.10056	0.177000	0.19895	-0.456000	0.05471	TTG		0.517	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		32	58	0	0	0	1	0	32	58					A	16773205	T	A	16773205	4	1	468	1	0	0	0	0	0	1	0	0	15423	1821	63	5	735	5	SYAP1	23	16773205	Nonsense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		16773205	138497355	34	38628											
MAGEB6	158809	broad.mit.edu	37	chrX	26212856	26212856	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctggttgtgatcttcatgaAcggcaactgtgccactgaag	11	10	2	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:26212856A>T	ENST00000379034.1	+	2	1042	c.893A>T	c.(892-894)aAc>aTc	p.N298I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	298	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCTTCATGAACGGCAACTGT	0.532																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(892-894)aAc>aTc		melanoma antigen family B, 6							176	166	169					X																	26212856		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212856A>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.893A>T	X.37:g.26212856A>T	ENSP00000368320:p.Asn298Ile						p.N298I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1042	+			298			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.893A>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	a	13.28	2.188606	0.38609	.	.	ENSG00000176746	ENST00000379034	T	0.05513	3.43	3.29	2.13	0.27403	.	0.057970	0.64402	U	0.000003	T	0.18173	0.0436	M	0.84846	2.72	0.09310	N	1	P	0.49961	0.93	P	0.57960	0.83	T	0.05037	-1.0910	10	0.87932	D	0	.	4.4718	0.11715	0.8462:0.0:0.1538:0.0	.	298	Q8N7X4	MAGB6_HUMAN	I	298	ENSP00000368320:N298I	ENSP00000368320:N298I	N	+	2	0	MAGEB6	26122777	0.500000	0.26091	0.026000	0.17262	0.032000	0.12392	1.255000	0.32909	0.501000	0.28013	0.481000	0.45027	AAC		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		70	112	0	0	0	1	0	70	112					T	26212856	A	T	26212856	3	4	468	1	0	0	0	0	1	0	0	0	9179	43	2	5	895	5	MAGEB6	23	26212856	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	9439651	26212856	129057704	35	38629											
WNK3	65267	broad.mit.edu	37	chrX	54275530	54275530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtgggttgaagggtagttGgttcaaggccaggggtctga	18	4	2	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:54275530G>T	ENST00000375159.2	-	16	3250	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q	WNK3_ENST00000354646.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1084					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						AAGGGTAGTTGGTTCAAGGCC	0.433																																						ENST00000354646.2																			0				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						c.(3250-3252)cCa>cAa		WNK lysine deficient protein kinase 3							97	86	90					X																	54275530		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54275530G>T	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.3251C>A	X.37:g.54275530G>T	ENSP00000364301:p.Pro1084Gln					WNK3_ENST00000375159.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q	p.P1084Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			17	3689	-			1084					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3251C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	4.931	0.172931	0.09391	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.25579	1.79;1.79;1.79	5.02	2.13	0.27403	.	0.899723	0.09489	N	0.795238	T	0.21267	0.0512	L	0.27053	0.805	0.09310	N	1	P;P	0.42203	0.773;0.664	P;B	0.45071	0.468;0.278	T	0.18398	-1.0338	10	0.87932	D	0	1.9947	4.494	0.11828	0.0877:0.4066:0.3631:0.1426	.	1084;1084	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1084	ENSP00000364312:P1084Q;ENSP00000346667:P1084Q;ENSP00000364301:P1084Q	ENSP00000346667:P1084Q	P	-	2	0	WNK3	54292255	0.976000	0.34144	0.007000	0.13788	0.299000	0.27559	1.724000	0.38064	0.010000	0.14839	-0.444000	0.05651	CCA		0.433	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		33	39	1	0	3.80469e-20	1	3.94827e-20	33	39					T	54275530	G	T	54275530	3	4	468	1	0	0	0	0	1	0	0	0	17376	1348	47	4	2183	4	WNK3	23	54275530	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	28062674	54275530	100995030	36	38630											
IL13RA1	3597	broad.mit.edu	37	chrX	117895252	117895252	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacacataatgttttctaCgtaaggttttaaaattattg	7	4	1	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:117895252C>T	ENST00000371666.3	+	6	895	c.828C>T	c.(826-828)taC>taT	p.Y276Y	IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	276	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						ATGTTTTCTACGTAAGGTTTT	0.289																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.e6+1		interleukin 13 receptor, alpha 1							93	94	94					X																	117895252		2203	4299	6502	SO:0001630	splice_region_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117895252C>T	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.828+1C>T	X.37:g.117895252C>T						IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR	p.Y276_splice	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			6	895	+			276					O95646|Q5JSL4|Q99656|Q9UDY5	Splice_Site	SNP	ENST00000371666.3	37	c.828_splice	CCDS14573.1																																																																																				0.289	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560	Silent	61	97	0	0	0	1	0	61	97					T	117895252	C	T	117895252	5	4	468	1	0	0	0	0	0	0	1	0	7629	550	19	1	850	1	IL13RA1	23	117895252	Splice_Site	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	63619722	117895252	37375308	37	38631											
MAP7D3	79649	broad.mit.edu	37	chrX	135312700	135312700	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaagtctgtggtgactGttttgaaataagtggtaatg	12	2	1	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:135312700G>A	ENST00000316077.9	-	10	1814	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	532					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)					TGTGGTGACTGTTTTGAAATA	0.348																																						ENST00000316077.9																			0				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						c.(1594-1596)Cag>Tag		MAP7 domain containing 3							141	134	136					X																	135312700		1840	4085	5925	SO:0001587	stop_gained	79649					cytoplasm|spindle		g.chrX:135312700G>A	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.1594C>T	X.37:g.135312700G>A	ENSP00000318086:p.Gln532*					MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497*	p.Q532*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			10	1814	-	Acute lymphoblastic leukemia(192;0.000127)		532					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	c.1594C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517097	0.96416	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	4.72	3.58	0.41010	.	0.281286	0.19145	N	0.121594	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-3.803	9.5283	0.39178	0.1384:0.0:0.8616:0.0	.	.	.	.	X	497;532;514;491	.	ENSP00000318086:Q532X	Q	-	1	0	MAP7D3	135140366	0.695000	0.27747	0.015000	0.15790	0.040000	0.13550	0.988000	0.29616	0.799000	0.34018	0.556000	0.70494	CAG		0.348	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			50	63	0	0	0	1	0	50	63					A	135312700	G	A	135312700	4	1	468	1	0	0	0	0	0	1	0	0	9269	1386	48	2	1072	2	MAP7D3	23	135312700	Nonsense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	17417448	135312700	19957860	38	38632											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagtcttgaacccctcGgagctctgctggagaaaatt	10	11	3	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:12855741G>A	ENST00000332296.7	+	4	1124	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	341					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)		TGAACCCCTCGGAGCTCTGCT	0.532																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)Gga>Aga		PRAME family member 1							162	168	166					1																	12855741		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12855741G>A	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.1021G>A	1.37:g.12855741G>A	ENSP00000332134:p.Gly341Arg					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	p.G341R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		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)	4	1124	+	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)	341					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1021G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	0.134	-1.109691	0.01813	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.12147	2.71;2.71	1.56	0.589	0.17452	.	1.372480	0.04895	N	0.450255	T	0.06917	0.0176	N	0.11698	0.16	0.09310	N	1	B	0.23249	0.082	B	0.18263	0.021	T	0.35992	-0.9766	10	0.09843	T	0.71	.	5.5429	0.17047	0.0:0.6295:0.3705:0.0	.	341	O95521	PRAM1_HUMAN	R	341;96	ENSP00000332134:G341R;ENSP00000383616:G96R	ENSP00000332134:G341R	G	+	1	0	PRAMEF1	12778328	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.849000	0.04322	0.197000	0.20387	0.205000	0.17691	GGA		0.532	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		67	164	0	0	0	1	0	67	164					A	12855741	G	A	12855741	3	1	469	1	0	0	0	0	1	0	0	0	12425	1117	39	1	1031	1	PRAMEF1	1	12855741	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		12855741	236394880	1	38633											
WDR63	126820	broad.mit.edu	37	chr1	85559315	85559315	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgattacctgtgtctcatgGcatccaactatctatggtga	8	9	2	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:85559315G>C	ENST00000294664.6	+	9	1212	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	WDR63_ENST00000326813.8_Missense_Mutation_p.W305C|WDR63_ENST00000370596.1_Missense_Mutation_p.W305C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	344										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGTCTCATGGCATCCAACTA	0.423																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1030-1032)tgG>tgC		WD repeat domain 63							158	148	152					1																	85559315		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85559315G>C		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1032G>C	1.37:g.85559315G>C	ENSP00000294664:p.Trp344Cys					WDR63_ENST00000326813.8_Missense_Mutation_p.W305C|WDR63_ENST00000370596.1_Missense_Mutation_p.W305C	p.W344C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1212	+			344					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1032G>C	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152224	0.57259	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.65549	-0.16;-0.16;-0.16	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84164	0.0430	10	0.66056	D	0.02	-1.0194	20.4043	0.99006	0.0:0.0:1.0:0.0	.	305;344	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	C	305;305;344	ENSP00000359628:W305C;ENSP00000317463:W305C;ENSP00000294664:W344C	ENSP00000294664:W344C	W	+	3	0	WDR63	85331903	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	8.964000	0.93389	2.823000	0.97156	0.650000	0.86243	TGG		0.423	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		8	45	0	0	0	1	0	8	45					C	85559315	G	C	85559315	3	2	469	1	0	0	0	0	1	0	0	0	17311	1212	42	4	1062	4	WDR63	1	85559315	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	72703574	85559315	163691306	2	38634											
FLG	2312	broad.mit.edu	37	chr1	152281630	152281630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggatccctggttcctgCttgtcctgggccctgatgat	11	13	0	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:152281630C>A	ENST00000368799.1	-	3	5767	c.5732G>T	c.(5731-5733)aGc>aTc	p.S1911I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1911	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)			CTGGTTCCTGCTTGTCCTGGG	0.582									Ichthyosis																													ENST00000368799.1																			0				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						c.(5731-5733)aGc>aTc		filaggrin							238	239	239					1																	152281630		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281630C>A	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.5732G>T	1.37:g.152281630C>A	ENSP00000357789:p.Ser1911Ile					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1911I	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5767	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1911			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5732G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244705	0.22796	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.09538	2.97	3.45	0.359	0.16088	.	.	.	.	.	T	0.13457	0.0326	M	0.79123	2.44	0.09310	N	1	D	0.67145	0.996	D	0.77557	0.99	T	0.06643	-1.0815	9	0.66056	D	0.02	0.1358	2.8696	0.05613	0.2185:0.5313:0.0:0.2501	.	1911	P20930	FILA_HUMAN	I	1911;146	ENSP00000357789:S1911I	ENSP00000271820:S146I	S	-	2	0	FLG	150548254	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.318000	0.02705	-0.011000	0.14247	0.586000	0.80456	AGC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	296	1	0	4.096e-09	1	4.36459e-09	6	296					A	152281630	C	A	152281630	3	1	469	1	0	0	0	0	1	0	0	0	5922	797	28	4	6457	4	FLG	1	152281630	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	66722315	152281630	96968991	3	38635											
SELE	6401	broad.mit.edu	37	chr1	169698443	169698443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatgatttgaaggtgAactctccagcaggggaatgg	15	6	1	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:169698443A>G	ENST00000333360.7	-	7	1113	c.974T>C	c.(973-975)tTc>tCc	p.F325S	SELE_ENST00000367780.4_Missense_Mutation_p.F263S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367782.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	325	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	TTTGAAGGTGAACTCTCCAGC	0.527																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(973-975)tTc>tCc		selectin E							78	68	71					1																	169698443		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698443A>G	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.974T>C	1.37:g.169698443A>G	ENSP00000331736:p.Phe325Ser					SELE_ENST00000367782.4_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367780.4_Missense_Mutation_p.F263S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S	p.F325S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			7	1113	-	all_hematologic(923;0.208)		325			Sushi 3.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.974T>C	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888149	0.33348	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	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	4.93	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.382987	0.19278	N	0.118221	T	0.75831	0.3903	M	0.83953	2.67	0.09310	N	1	D	0.67145	0.996	D	0.72982	0.979	T	0.70880	-0.4752	10	0.72032	D	0.01	-7.2588	12.5611	0.56281	1.0:0.0:0.0:0.0	.	325	P16581	LYAM2_HUMAN	S	325;325;263;325;325;325;263;325;325	ENSP00000356755:F325S;ENSP00000356756:F325S;ENSP00000356754:F263S;ENSP00000356753:F325S;ENSP00000331736:F325S;ENSP00000356751:F325S;ENSP00000356749:F263S;ENSP00000356750:F325S;ENSP00000356748:F325S	ENSP00000331736:F325S	F	-	2	0	SELE	167965067	0.008000	0.16893	0.002000	0.10522	0.038000	0.13279	2.390000	0.44416	1.843000	0.53566	0.528000	0.53228	TTC		0.527	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		7	31	0	0	0	1	0	7	31					G	169698443	A	G	169698443	3	3	469	1	0	0	0	0	1	0	0	0	14013	246	9	3	886	3	SELE	1	169698443	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	17416813	169698443	79552178	4	38636											
FMO4	2329	broad.mit.edu	37	chr1	171302046	171302046	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggattaagtattaccaaaGggtacttacattttttattt	6	4	0	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:171302046G>A	ENST00000367749.3	+	7	1156	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	276					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATTACCAAAGGGTACTTACA	0.254																																					Pancreas(24;816 862 7754 7993 32832)	ENST00000367749.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e7+1		flavin containing monooxygenase 4							45	46	46					1																	171302046		2202	4300	6502	SO:0001630	splice_region_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171302046G>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.827+1G>A	1.37:g.171302046G>A						FMO4_ENST00000462992.1_3'UTR	p.G276_splice	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN			7	1156	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		276					Q53XR0	Splice_Site	SNP	ENST00000367749.3	37	c.827_splice	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	6.937	0.542552	0.13250	.	.	ENSG00000076258	ENST00000367749	T	0.49720	0.77	5.63	5.63	0.86233	.	0.551987	0.22096	N	0.064691	T	0.26340	0.0643	M	0.66506	2.035	0.36866	D	0.888651	B	0.14438	0.01	B	0.14023	0.01	T	0.10823	-1.0613	10	0.18276	T	0.48	-16.4679	8.0784	0.30731	0.1916:0.0:0.8084:0.0	.	276	P31512	FMO4_HUMAN	R	276	ENSP00000356723:G276R	ENSP00000356723:G276R	G	+	1	0	FMO4	169568670	1.000000	0.71417	0.970000	0.41538	0.347000	0.29111	3.201000	0.51059	2.798000	0.96311	0.655000	0.94253	GGG		0.254	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	Missense_Mutation	21	19	0	0	0	1	0	21	19					A	171302046	G	A	171302046	5	1	469	1	0	0	0	0	0	0	1	0	5957	1014	35	2	844	2	FMO4	1	171302046	Splice_Site	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	1603603	171302046	77948575	5	38637											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228468	204228468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagctcttgcgctgggCaattttgtcagggttggtgc	15	8	2	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:204228468C>T	ENST00000272203.3	-	8	1241	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	309	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGCGCTGGGCAATTTTGTCA	0.647																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(925-927)Gcc>Acc		pleckstrin homology domain containing, family A member 6							95	98	97					1																	204228468		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228468C>T	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.925G>A	1.37:g.204228468C>T	ENSP00000272203:p.Ala309Thr					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	p.A309T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	1241	-	all_cancers(21;0.0222)|Breast(84;0.179)		309			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.925G>A	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035118	0.93575	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11385	2.78;3.26	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.01090	-1.1455	10	0.25106	T	0.35	-27.2071	18.5677	0.91122	0.0:1.0:0.0:0.0	.	309	Q9Y2H5	PKHA6_HUMAN	T	309;329	ENSP00000272203:A309T;ENSP00000402046:A329T	ENSP00000272203:A309T	A	-	1	0	PLEKHA6	202495091	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	6.745000	0.74860	2.473000	0.83533	0.561000	0.74099	GCC		0.647	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		37	61	0	0	0	1	0	37	61					T	204228468	C	T	204228468	3	4	469	1	0	0	0	0	1	0	0	0	12060	710	25	2	2281	2	PLEKHA6	1	204228468	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	32926422	204228468	45022153	6	38638											
IKBKE	9641	broad.mit.edu	37	chr1	206653790	206653790	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtctccccttggacagGgaggtgctccaggccacatg	12	14	2	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:206653790G>A	ENST00000367120.3	+	13	1714	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	IKBKE_ENST00000537984.1_Splice_Site_p.M362I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	447	Interaction with DDX3X.|Leucine-zipper.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|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)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTTGGACAGGGAGGTGCTCC	0.622																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.e13-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							88	63	72					1																	206653790		2203	4300	6503	SO:0001630	splice_region_variant	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206653790G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1341-1G>A	1.37:g.206653790G>A						IKBKE_ENST00000537984.1_Splice_Site_p.M362_splice|IKBKE_ENST00000462698.1_3'UTR	p.M447_splice	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			13	1714	+	Breast(84;0.137)		447			Leucine-zipper.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Splice_Site	SNP	ENST00000367120.3	37	c.1340_splice	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	g	3.205	-0.162864	0.06502	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.60672	0.17;0.32	4.73	3.81	0.43845	.	0.363911	0.31041	N	0.008365	T	0.26304	0.0642	N	0.01874	-0.695	0.40147	D	0.9769	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07083	-1.0791	9	.	.	.	.	9.0943	0.36629	0.104:0.0:0.896:0.0	.	362;447	Q3B754;Q14164	.;IKKE_HUMAN	I	447;362	ENSP00000356087:M447I;ENSP00000444529:M362I	.	M	+	3	0	IKBKE	204720413	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.474000	0.45154	1.115000	0.41800	0.550000	0.68814	ATG		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		Missense_Mutation	8	12	0	0	0	1	0	8	12					A	206653790	G	A	206653790	5	1	469	1	0	0	0	0	0	0	1	0	7612	1246	43	2	1383	2	IKBKE	1	206653790	Splice_Site	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	2425322	206653790	42596831	7	38639											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	11	4	0	2	rs111515821		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29	35	33					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	23	1	0	0.00909568	1	0.0092378	4	23					T	97869979	G	T	97869979	3	4	469	1	0	0	0	0	1	0	0	0	665	1174	41	4	3238	4	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		97869979	145329394	8	38640											
ABI2	10152	broad.mit.edu	37	chr2	204281776	204281776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgctgaagaggacccaccGtgggctccacgttcttactt	10	12	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:204281776G>A	ENST00000422511.2	+	10	1270	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	ABI2_ENST00000261017.5_Silent_p.P408P|ABI2_ENST00000261018.7_Silent_p.P232P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Silent_p.P334P|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000295851.5_Silent_p.P446P|ABI2_ENST00000430418.1_Silent_p.P391P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	446	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGGACCCACCGTGGGCTCCAC	0.468																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(1336-1338)ccG>ccA		abl-interactor 2							86	85	85					2																	204281776		2203	4300	6503	SO:0001819	synonymous_variant	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204281776G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1239G>A	2.37:g.204281776G>A						ABI2_ENST00000261017.5_Silent_p.P408P|ABI2_ENST00000422511.2_Silent_p.P413P|ABI2_ENST00000261018.7_Silent_p.P232P|ABI2_ENST00000261016.6_Silent_p.P334P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000430418.1_Silent_p.P391P	p.P446P			Q9NYB9	ABI2_HUMAN			10	1634	+			446					B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Silent	SNP	ENST00000422511.2	37	c.1338G>A		.	.	.	.	.	.	.	.	.	.	G	7.118	0.577450	0.13686	.	.	ENSG00000138443	ENST00000454023	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39860	-0.9593	4	.	.	.	-9.3339	2.1652	0.03835	0.1387:0.249:0.333:0.2793	.	.	.	.	H	226	.	.	R	+	2	0	ABI2	203990021	0.000000	0.05858	0.160000	0.22671	0.832000	0.47134	-8.646000	0.00018	-2.302000	0.00657	-1.261000	0.01458	CGT		0.468	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		3	63	0	0	0	1	0	3	63					A	204281776	G	A	204281776	2	1	469	1	0	0	0	0	0	0	0	1	89	1132	40	1		1	ABI2	2	204281776	Silent	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	106411797	204281776	38917597	9	38641											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	45	0	0	0	1	0	27	45					T	209113112	C	T	209113112	3	4	469	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	4831336	209113112	34086261	10	38642											
CCDC108	255101	broad.mit.edu	37	chr2	219894928	219894928	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcctgaagggggcattTacctgtgtggccaagcagaa	12	9	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:219894928T>C	ENST00000341552.5	-	10	1247	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000410037.1_Silent_p.V323V|CCDC108_ENST00000409865.3_Silent_p.V377V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	388						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)		AGGGGGCATTTACCTGTGTGG	0.567											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000341552.5																			0				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						c.(1162-1164)gtA>gtG		coiled-coil domain containing 108							75	76	76					2																	219894928		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219894928T>C	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.1164A>G	2.37:g.219894928T>C			OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000409865.3_Silent_p.V377V|CCDC108_ENST00000410037.1_Silent_p.V323V	p.V388V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1247	-		Renal(207;0.0915)	388					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1164A>G	CCDS2430.2																																																																																				0.567	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		25	63	0	0	0	1	0	25	63					C	219894928	T	C	219894928	2	2	469	1	0	0	0	0	0	0	0	1	2743	1741	61	3		3	CCDC108	2	219894928	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	10781816	219894928	23304445	11	38643											
NGEF	25791	broad.mit.edu	37	chr2	233756167	233756167	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gggtcgagctctagctgcgcGatcagctcccggaaagctgc	14	13	2	0	rs148012306		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:233756167G>C	ENST00000264051.3	-	8	1451	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	391	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTAGCTGCGCGATCAGCTCCC	0.612																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1171-1173)atC>atG		neuronal guanine nucleotide exchange factor							89	81	84					2																	233756167		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233756167G>C	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1173C>G	2.37:g.233756167G>C	ENSP00000264051:p.Ile391Met					NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	p.I391M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	8	1451	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	391			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1173C>G	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	6.657	0.489773	0.12702	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	6.07	-2.39	0.06602	Dbl homology (DH) domain (5);	0.090335	0.85682	D	0.000000	T	0.35566	0.0936	N	0.21373	0.66	0.33399	D	0.577124	B;P	0.36027	0.28;0.533	B;B	0.34346	0.18;0.145	T	0.22347	-1.0219	10	0.56958	D	0.05	-24.9491	0.7979	0.01069	0.1936:0.1942:0.2866:0.3256	.	299;391	E9PC42;Q8N5V2	.;NGEF_HUMAN	M	391;299;281;114;114;114	ENSP00000264051:I391M;ENSP00000362653:I299M;ENSP00000439035:I114M;ENSP00000401063:I114M;ENSP00000412614:I114M	ENSP00000264051:I391M	I	-	3	3	NGEF	233464411	0.562000	0.26586	0.008000	0.14137	0.150000	0.21749	0.067000	0.14510	-0.868000	0.04058	-1.799000	0.00621	ATC		0.612	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		20	23	0	0	0	1	0	20	23					C	233756167	G	C	233756167	3	2	469	1	0	0	0	0	1	0	0	0	10394	1048	37	4	991	4	NGEF	2	233756167	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	13861239	233756167	9443206	12	38644											
CIDEC	63924	broad.mit.edu	37	chr3	9911660	9911660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcaggcagccaatgaagtCctgtgggttcagcttgtaca	12	9	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr3:9911660C>G	ENST00000336832.2	-	5	599	c.460G>C	c.(460-462)Gac>Cac	p.D154H	CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	154					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCAATGAAGTCCTGTGGGTTC	0.512																																						ENST00000336832.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8						c.(460-462)Gac>Cac		cell death-inducing DFFA-like effector c							149	134	139					3																	9911660		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9911660C>G		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.460G>C	3.37:g.9911660C>G	ENSP00000338642:p.Asp154His					CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000443115.1_Intron	p.D154H	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN			5	599	-	Medulloblastoma(99;0.227)		154					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.460G>C	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848696	0.91277	.	.	ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.95415	0.8502	10	0.87932	D	0	-36.9048	18.1532	0.89682	0.0:1.0:0.0:0.0	.	154;164	Q96AQ7;C9JMN7	CIDEC_HUMAN;.	H	154;80;80;164	ENSP00000338642:D154H;ENSP00000392975:D80H;ENSP00000400649:D80H;ENSP00000408631:D164H	ENSP00000338642:D154H	D	-	1	0	CIDEC	9886660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.349000	0.79376	2.885000	0.99019	0.655000	0.94253	GAC		0.512	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		34	49	0	0	0	1	0	34	49					G	9911660	C	G	9911660	3	3	469	1	0	0	0	0	1	0	0	0	3427	855	30	4	264	4	CIDEC	3	9911660	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		9911660	188110770	13	38645											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632083	156632083	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagccctacttgttgtacTccgttcacatgaaaagcacc	6	13	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr4:156632083T>C	ENST00000296518.7	+	6	975	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					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)		CTTGTTGTACTCCGTTCACAT	0.483																																						ENST00000296518.7																			0				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						c.(766-768)Tcc>Ccc		guanylate cyclase 1, soluble, alpha 3							126	119	121					4																	156632083		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632083T>C		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.766T>C	4.37:g.156632083T>C	ENSP00000296518:p.Ser256Pro					GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P	p.S256P			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	975	+	all_hematologic(180;0.24)	Renal(120;0.0854)	256					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.766T>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463674	0.26248	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.75;-1.89;-1.89;-1.89	5.76	4.56	0.56223	.	0.000000	0.64402	D	0.000006	D	0.87629	0.6225	M	0.62723	1.935	0.45762	D	0.998654	D;D;P	0.56968	0.978;0.978;0.935	P;P;P	0.54706	0.759;0.759;0.68	D	0.85481	0.1179	10	0.30078	T	0.28	.	13.2871	0.60249	0.0:0.0:0.1324:0.8676	.	256;256;256	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	P	256	ENSP00000424361:S256P;ENSP00000421493:S256P;ENSP00000426968:S256P;ENSP00000412201:S256P;ENSP00000296518:S256P;ENSP00000426040:S256P	ENSP00000296518:S256P	S	+	1	0	GUCY1A3	156851533	1.000000	0.71417	0.445000	0.26908	0.005000	0.04900	4.287000	0.59001	1.090000	0.41315	-0.329000	0.08387	TCC		0.483	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			4	69	0	0	0	1	0	4	69					C	156632083	T	C	156632083	3	2	469	1	0	0	0	0	1	0	0	0	6894	1551	54	3	780	3	GUCY1A3	4	156632083	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		156632083	34522193	14	38646											
CMYA5	202333	broad.mit.edu	37	chr5	79034604	79034604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccagaaaataagttatgCggttccatttgaagacaccc	7	10	0	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:79034604C>T	ENST00000446378.2	+	2	10047	c.10016C>T	c.(10015-10017)gCg>gTg	p.A3339V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3339					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)		ATAAGTTATGCGGTTCCATTT	0.483																																						ENST00000446378.2																			0				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						c.(10015-10017)gCg>gTg		cardiomyopathy associated 5							60	64	63					5																	79034604		2079	4213	6292	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79034604C>T	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.10016C>T	5.37:g.79034604C>T	ENSP00000394770:p.Ala3339Val						p.A3339V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10047	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3339					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.10016C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818145	0.50633	.	.	ENSG00000164309	ENST00000446378	T	0.50001	0.76	5.93	5.07	0.68467	.	0.115022	0.39475	N	0.001341	T	0.46014	0.1371	M	0.69823	2.125	0.42388	D	0.992512	D	0.62365	0.991	B	0.41174	0.349	T	0.55159	-0.8184	10	0.87932	D	0	.	9.7468	0.40451	0.0:0.7846:0.1405:0.0749	.	3339	Q8N3K9	CMYA5_HUMAN	V	3339	ENSP00000394770:A3339V	ENSP00000394770:A3339V	A	+	2	0	CMYA5	79070360	0.036000	0.19791	0.901000	0.35422	0.572000	0.35998	0.217000	0.17603	1.535000	0.49220	0.655000	0.94253	GCG		0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		20	30	0	0	0	1	0	20	30					T	79034604	C	T	79034604	3	4	469	1	0	0	0	0	1	0	0	0	3590	768	27	1	10022	1	CMYA5	5	79034604	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		79034604	101880656	15	38647											
C5orf20	140947	broad.mit.edu	37	chr5	134782426	134782426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttccgggctccctcccGcctggtctggcctgtcttcc	10	17	2	0	rs560339780		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:134782426G>A	ENST00000503143.2	-	1	612	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		125						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCCTCCCGCCTGGTCTGG	0.552																																						ENST00000503143.2																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(373-375)Cgg>Tgg		chromosome 5 open reading frame 20							117	126	123					5																	134782426		2203	4300	6503	SO:0001583	missense	140947					nucleus		g.chr5:134782426G>A																												ENST00000503143.2:c.373C>T	5.37:g.134782426G>A	ENSP00000421871:p.Arg125Trp					TIFAB_ENST00000537858.1_3'UTR	p.R125W	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	612	-			125						Missense_Mutation	SNP	ENST00000503143.2	37	c.373C>T	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.116078	0.08831	.	.	ENSG00000251380	ENST00000503143	T	0.40756	1.02	2.78	-2.67	0.06059	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15780	-1.0425	9	0.87932	D	0	.	3.4735	0.07575	0.5189:0.0:0.2802:0.2009	.	125	Q8TF63	DCNP1_HUMAN	W	125	ENSP00000421871:R125W	ENSP00000421871:R125W	R	-	1	2	C5orf20	134810325	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.839000	0.04368	-0.745000	0.04772	-0.424000	0.05967	CGG		0.552	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			54	91	0	0	0	1	0	54	91					A	134782426	G	A	134782426	3	1	469	1	0	0	0	0	1	0	0	0	2284	1086	38	1	365	1	C5orf20	5	134782426	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	55747822	134782426	46132834	16	38648											
SPINK5	11005	broad.mit.edu	37	chr5	147466068	147466068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgggaaaacatatgacaAcagatgtgcactgtgtgctg	12	6	0	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:147466068A>G	ENST00000256084.7	+	5	425	c.383A>G	c.(382-384)aAc>aGc	p.N128S	SPINK5_ENST00000359874.3_Missense_Mutation_p.N128S|SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	128	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATATGACAACAGATGTGCA	0.378																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(382-384)aAc>aGc		serine peptidase inhibitor, Kazal type 5							208	198	201					5																	147466068		1903	4132	6035	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147466068A>G	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.383A>G	5.37:g.147466068A>G	ENSP00000256084:p.Asn128Ser					SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S|SPINK5_ENST00000256084.7_Missense_Mutation_p.N128S	p.N128S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	456	+			128			Kazal-like 2.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.383A>G	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	5.301	0.240851	0.10077	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.13	-4.31	0.03698	Proteinase inhibitor I1, Kazal (2);Protease inhibitor, Kazal-type (1);	0.493078	0.17081	N	0.187779	T	0.75583	0.3869	L	0.54965	1.715	0.09310	N	1	B;B;B;B	0.19331	0.035;0.013;0.035;0.028	B;B;B;B	0.24006	0.034;0.03;0.05;0.03	T	0.60642	-0.7223	10	0.30854	T	0.27	-3.2882	13.0627	0.59015	0.8769:0.0:0.1231:0.0	.	109;128;128;128	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	S	128;128;109;128	ENSP00000381472:N128S;ENSP00000352936:N128S;ENSP00000421519:N109S;ENSP00000256084:N128S	ENSP00000256084:N128S	N	+	2	0	SPINK5	147446261	0.989000	0.36119	0.020000	0.16555	0.215000	0.24574	0.906000	0.28517	-0.788000	0.04504	-0.479000	0.04858	AAC		0.378	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		3	86	0	0	0	1	0	3	86					G	147466068	A	G	147466068	3	3	469	1	0	0	0	0	1	0	0	0	15061	43	2	3	401	3	SPINK5	5	147466068	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	12683642	147466068	33449192	17	38649											
MCM9	254394	broad.mit.edu	37	chr6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactatctccacttcacagcGcacatcttgctgaaagggct	8	13	3	1	rs142688993	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(766-768)Cgc>Tgc		minichromosome maintenance complex component 9		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	131	115	121		766,766	5.8	1	6	dbSNP_134	121	0,8600		0,0,4300	no	missense,missense	MCM9	NM_017696.2,NM_153255.4	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	256/1144,256/392	119238864	2,13004	2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119238864G>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.766C>T	6.37:g.119238864G>A	ENSP00000314505:p.Arg256Cys					MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	5	1052	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	256					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.766C>T	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465131	0.84425	4.54E-4	0.0	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04706	3.57;3.57	5.85	5.85	0.93711	.	.	.	.	.	T	0.08133	0.0203	M	0.89904	3.07	0.80722	D	1	P	0.49559	0.925	B	0.39119	0.291	T	0.19712	-1.0297	9	0.48119	T	0.1	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	256	Q9NXL9-2	.	C	256	ENSP00000314505:R256C;ENSP00000312870:R256C	ENSP00000312870:R256C	R	-	1	0	MCM9	119280563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.199000	0.72112	2.768000	0.95171	0.655000	0.94253	CGC		0.453	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		35	95	0	0	0	1	0	35	95					A	119238864	G	A	119238864	3	1	469	1	0	0	0	0	1	0	0	0	9394	1087	38	1	421	1	MCM9	6	119238864	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		119238864	51876203	18	38650											
MACC1	346389	broad.mit.edu	37	chr7	20198631	20198635	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-													ttttgtttaatttctttcctTtctccttctgtctttacttc							TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:20198631_20198635delTTCTC	ENST00000400331.5	-	5	1657_1661	c.1349_1353delGAGAA	c.(1348-1353)ggagaafs	p.GE450fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	450					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTCTTTCCTTTCTCCTTCTGTCTT	0.346																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1348-1353)gfs		metastasis associated in colon cancer 1																																				SO:0001589	frameshift_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198631_20198635delTTCTC		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1349_1353delGAGAA	7.37:g.20198631_20198635delTTCTC	ENSP00000383185:p.Gly450fs					MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1657_1661	-			450					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Frame_Shift_Del	DEL	ENST00000400331.5	37	c.1349_1353delGAGAA	CCDS5369.1																																																																																				0.346	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		38	26						38	26	---	---	---	---	-	20198635	TTCTC	-	20198631	7	5	469	1	0	1	0	1	0	0	0	0	9143	1838	64	0	1217	0	MACC1	7	20198631	Frame_Shift_Del	DEL	TTCTC	TCGA-TM-A84H-01A-11D-A36O-08		20198631	138940032	19	38651											
VPS41	27072	broad.mit.edu	37	chr7	38805189	38805189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcttaccttaagctgTccaatttctttaaatttata	4	8	1	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1318-1320)ggA>ggG		vacuolar protein sorting 41 homolog (S. cerevisiae)							61	63	62					7																	38805189		2203	4299	6502	SO:0001819	synonymous_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38805189T>C	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1320A>G	7.37:g.38805189T>C						VPS41_ENST00000395969.2_Silent_p.G415G	p.G440G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			16	1374	-			440					E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	c.1320A>G	CCDS5457.1																																																																																				0.338	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			9	58	0	0	0	1	0	9	58					C	38805189	T	C	38805189	2	2	469	1	0	0	0	0	0	0	0	1	17207	1654	58	3		3	VPS41	7	38805189	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	18606558	38805189	120333474	20	38652											
CSMD3	114788	broad.mit.edu	37	chr8	113988234	113988234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttgcactcgctgttcctCggaaagtctatggatggtga	11	9	1	1	rs557572936		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:113988234C>T	ENST00000297405.5	-	7	1418	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E392K(1)		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						CGCTGTTCCTCGGAAAGTCTA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17209	0.001		0.0	False		,,,				2504	0.0					ENST00000297405.5																			1	Substitution - Missense(1)	p.E392K(1)	ovary(1)	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						c.(1174-1176)Gag>Aag		CUB and Sushi multiple domains 3							203	178	186					8																	113988234		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988234C>T	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.1174G>A	8.37:g.113988234C>T	ENSP00000297405:p.Glu392Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	p.E392K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			7	1418	-			392					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1174G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919931	0.73098	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.18338	2.22;2.22;2.22	6.17	6.17	0.99709	.	0.177149	0.36268	N	0.002692	T	0.26846	0.0657	N	0.22421	0.69	0.36807	D	0.885667	D;D	0.65815	0.992;0.995	D;D	0.70716	0.935;0.97	T	0.01753	-1.1281	10	0.05959	T	0.93	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	392;352	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	K	352;392;392	ENSP00000345799:E352K;ENSP00000297405:E392K;ENSP00000343124:E392K	ENSP00000297405:E392K	E	-	1	0	CSMD3	114057410	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.685000	0.54678	2.941000	0.99782	0.655000	0.94253	GAG		0.502	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		131	62	0	0	0	1	0	131	62					T	113988234	C	T	113988234	3	4	469	1	0	0	0	0	1	0	0	0	3946	893	31	1	10209	1	CSMD3	8	113988234	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		113988234	32375788	21	38653											
PFKP	5214	broad.mit.edu	37	chr10	3175464	3175464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcagaagagggcaaaggCgtgtttgactgcaggaagaa	14	5	1	4	rs35828349	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:3175464C>T	ENST00000381125.4	+	19	2056	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	PFKP_ENST00000381075.2_Silent_p.G652G|PFKP_ENST00000381072.1_Silent_p.G78G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	660	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGGGCAAAGGCGTGTTTGACT	0.493													C|||	14	0.00279553	0.0098	0.0014	5008	,	,		18066	0.0		0.0	False		,,,				2504	0.0					ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1954-1956)ggC>ggT		phosphofructokinase, platelet		C	,	73,4333	65.3+/-102.7	0,73,2130	149	143	145		1956,1980	-10.4	0.6	10	dbSNP_126	145	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PFKP	NM_001242339.1,NM_002627.4	,	0,73,6430	TT,TC,CC		0.0,1.6568,0.5613	,	652/777,660/785	3175464	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3175464C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1980C>T	10.37:g.3175464C>T						PFKP_ENST00000381072.1_Silent_p.G78G|PFKP_ENST00000381125.4_Silent_p.G660G	p.G652G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	21	2180	+			660					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.1956C>T	CCDS7059.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.406	-0.915896	0.02415	0.016568	0.0	ENSG00000067057	ENST00000433193	.	.	.	5.28	-10.4	0.00318	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48163	-0.9059	4	.	.	.	.	4.9124	0.13829	0.4413:0.1909:0.3013:0.0666	rs35828349	.	.	.	V	13	.	.	A	+	2	0	PFKP	3165464	0.000000	0.05858	0.586000	0.28679	0.003000	0.03518	-4.011000	0.00314	-1.260000	0.02465	-0.150000	0.13652	GCG		0.493	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		44	145	0	0	0	1	0	44	145					T	3175464	C	T	3175464	2	4	469	1	0	0	0	0	0	0	0	1	11766	755	27	1		1	PFKP	10	3175464	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		3175464	132359283	22	38654											
CUL2	8453	broad.mit.edu	37	chr10	35322128	35322128	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcataaaatgctgatcaccaTtcaaaacagtgttgataagc	6	8	3	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:35322128T>G	ENST00000374748.1	-	12	1389	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T			Q13617	CUL2_HUMAN	cullin 2	359					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						CTGATCACCATTCAAAACAGT	0.308																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1075-1077)aAt>aCt		cullin 2							106	100	103					10																	35322128		2203	4298	6501	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35322128T>G	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.1076A>C	10.37:g.35322128T>G	ENSP00000363880:p.Asn359Thr					CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T	p.N359T			Q13617	CUL2_HUMAN			12	1389	-			359					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1076A>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880459	0.51801	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.97	5.97	0.96955	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	L	0.42245	1.32	0.80722	D	1	P;P;P	0.39759	0.492;0.637;0.687	B;B;B	0.40329	0.268;0.219;0.326	T	0.06881	-1.0802	10	0.34782	T	0.22	-38.6919	16.4534	0.84003	0.0:0.0:0.0:1.0	.	359;378;359	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	T	359;359;359;359;302;359;378	ENSP00000363883:N359T;ENSP00000363880:N359T;ENSP00000363878:N359T;ENSP00000363881:N359T;ENSP00000363874:N359T;ENSP00000444856:N378T	ENSP00000363874:N359T	N	-	2	0	CUL2	35362134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.277000	0.72608	2.285000	0.76669	0.477000	0.44152	AAT		0.308	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		25	75	0	0	0	1	0	25	75					G	35322128	T	G	35322128	3	3	469	1	0	0	0	0	1	0	0	0	4055	1493	52	5	1205	5	CUL2	10	35322128	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	32146664	35322128	100212619	23	38655											
CDH23	64072	broad.mit.edu	37	chr10	73567468	73567468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggaggtgcgcgttgTgctagaggacatcaacgacc	14	10	1	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:73567468T>C	ENST00000224721.6	+	58	8524	c.8519T>C	c.(8518-8520)gTg>gCg	p.V2840A	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V595A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2835	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGCGCGTTGTGCTAGAGGAC	0.637																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8518-8520)gTg>gCg		cadherin-related 23							33	36	35					10																	73567468		2175	4261	6436	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73567468T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8519T>C	10.37:g.73567468T>C	ENSP00000224721:p.Val2840Ala					CDH23_ENST00000398788.3_Missense_Mutation_p.V595A|CDH23_ENST00000475158.1_3'UTR	p.V2840A	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			58	8524	+			2835			Cadherin 26.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8519T>C		.	.	.	.	.	.	.	.	.	.	T	10.42	1.345343	0.24426	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.60672	0.17	5.6	4.47	0.54385	Cadherin (3);	0.281551	0.28538	N	0.014999	T	0.33760	0.0874	N	0.16368	0.405	0.30515	N	0.769006	B;B	0.15141	0.007;0.012	B;B	0.12156	0.003;0.007	T	0.23084	-1.0198	10	0.10636	T	0.68	.	6.2756	0.20979	0.142:0.0747:0.0:0.7833	.	2835;2835	E9PEX1;Q9H251	.;CAD23_HUMAN	A	2840;2835;2838;595	ENSP00000381768:V595A	ENSP00000224721:V2840A	V	+	2	0	CDH23	73237474	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	2.573000	0.46007	2.134000	0.65973	0.445000	0.29226	GTG		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		6	11	0	0	0	1	0	6	11					C	73567468	T	C	73567468	3	2	469	1	0	0	0	0	1	0	0	0	3108	1696	59	3	9079	3	CDH23	10	73567468	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	38245340	73567468	61967279	24	38656											
MKI67	4288	broad.mit.edu	37	chr10	129904148	129904148	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggggttttgactgggtctgGttgtggagatttgcaggata	17	3	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:129904148G>C	ENST00000368654.3	-	13	6331	c.5956C>G	c.(5956-5958)Cca>Gca	p.P1986A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1986	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)				ACTGGGTCTGGTTGTGGAGAT	0.488																																						ENST00000368654.3																			0				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						c.(5956-5958)Cca>Gca		marker of proliferation Ki-67							213	216	215					10																	129904148		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904148G>C	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.5956C>G	10.37:g.129904148G>C	ENSP00000357643:p.Pro1986Ala					MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	p.P1986A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6331	-		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)	1986			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5956C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.940060	0.00484	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02737	4.18;4.18	3.46	-6.91	0.01649	.	1.400240	0.05186	N	0.502288	T	0.01800	0.0057	L	0.33485	1.01	0.09310	N	1	B;P;B	0.34615	0.018;0.459;0.276	B;B;B	0.25140	0.019;0.058;0.047	T	0.24154	-1.0168	10	0.17832	T	0.49	.	4.3568	0.11183	0.1631:0.4399:0.2452:0.1518	.	1985;1626;1986	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1986;1626;1985	ENSP00000357643:P1986A;ENSP00000357642:P1626A	ENSP00000357642:P1626A	P	-	1	0	MKI67	129794138	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-7.424000	0.00036	-3.447000	0.00161	-0.176000	0.13171	CCA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	246	0	0	0	1	0	9	246					C	129904148	G	C	129904148	3	2	469	1	0	0	0	0	1	0	0	0	9598	1261	44	4	3826	4	MKI67	10	129904148	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	56336680	129904148	5630599	25	38657											
MUC5B	727897	broad.mit.edu	37	chr11	1269642	1269642	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccacggccaccacaacCagggccaccggctctgtggc	10	19	1	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:1269642C>A	ENST00000529681.1	+	31	11590	c.11532C>A	c.(11530-11532)acC>acA	p.T3844T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3847T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3844	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)		CCACCACAACCAGGGCCACCG	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11539-11541)acC>acA		mucin 5B, oligomeric mucus/gel-forming							132	153	146					11																	1269642		2090	4184	6274	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269642C>A	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.11532C>A	11.37:g.1269642C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3844T	p.T3847T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11599	+		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)	3844			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.11541C>A	CCDS44515.2																																																																																				0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	195	1	0	2.56e-06	1	2.68387e-06	4	195					A	1269642	C	A	1269642	2	1	469	1	0	0	0	0	0	0	0	1	9979	581	21	4		4	MUC5B	11	1269642	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		1269642	133736874	26	38658											
OR52E4	390081	broad.mit.edu	37	chr11	5906365	5906365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttttggctaacctgtaTgtggttgtcccacctgccct	8	12	1	0	rs375153501		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:5906365T>C	ENST00000316987.2	+	1	865	c.843T>C	c.(841-843)taT>taC	p.Y281Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	281						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(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACCTGTATGTGGTTGTCC	0.388																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(841-843)taT>taC		olfactory receptor, family 52, subfamily E, member 4							135	130	132					11																	5906365		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906365T>C	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.843T>C	11.37:g.5906365T>C							p.Y281Y	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	865	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	281					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.843T>C	CCDS31401.1																																																																																				0.388	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		69	87	0	0	0	1	0	69	87					C	5906365	T	C	5906365	2	2	469	1	0	0	0	0	0	0	0	1	11116	1471	51	3		3	OR52E4	11	5906365	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	4636723	5906365	129100151	27	38659											
WNK1	65125	broad.mit.edu	37	chr12	992630	992630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcgagaaattattgaaAaagctgatgaaatgctcagt	10	4	1	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:992630A>G	ENST00000315939.6	+	16	4202	c.3559A>G	c.(3559-3561)Aaa>Gaa	p.K1187E	WNK1_ENST00000537687.1_Missense_Mutation_p.K1447E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1187					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)			AATTATTGAAAAAGCTGATGA	0.403																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				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						c.(4339-4341)Aaa>Gaa		WNK lysine deficient protein kinase 1							135	141	139					12																	992630		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:992630A>G	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.3559A>G	12.37:g.992630A>G	ENSP00000313059:p.Lys1187Glu					WNK1_ENST00000315939.6_Missense_Mutation_p.K1187E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E	p.K1447E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	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)		16	4982	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1187					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4339A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465517	0.84425	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	T	0.47507	0.1449	L	0.43923	1.385	0.45995	D	0.998803	D;D;D	0.60575	0.988;0.988;0.979	P;P;P	0.56216	0.794;0.794;0.628	T	0.48163	-0.9059	10	0.87932	D	0	-14.8375	15.9573	0.79896	1.0:0.0:0.0:0.0	.	940;940;1187	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	E	940;1187;1447;360;1685;780;87	ENSP00000441972:K940E;ENSP00000313059:K1187E;ENSP00000444465:K1447E;ENSP00000433548:K1685E;ENSP00000341292:K780E;ENSP00000446253:K87E	ENSP00000252477:K360E	K	+	1	0	WNK1	862891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.156000	0.67533	0.528000	0.53228	AAA		0.403	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	69	0	0	0	1	0	4	69					G	992630	A	G	992630	3	3	469	1	0	0	0	0	1	0	0	0	17374	15	1	3	5123	3	WNK1	12	992630	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08		992630	132859265	28	38660											
KRT82	3888	broad.mit.edu	37	chr12	52793851	52793851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgatctcagcgatgatgCcgtccacgtccagctcccgg	10	16	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:52793851C>T	ENST00000257974.2	-	5	937	c.860G>A	c.(859-861)gGc>gAc	p.G287D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	287	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCGATGATGCCGTCCACGTC	0.617																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(859-861)gGc>gAc		keratin 82							108	91	97					12																	52793851		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793851C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"-", "Intermediate filaments type II, keratins (basic)"	6459	protein-coding gene	gene with protein product	"hard keratin type II 2"	601078	"keratin, hair, basic, 2"	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.860G>A	12.37:g.52793851C>T	ENSP00000257974:p.Gly287Asp					RP3-416H24.4_ENST00000547174.1_RNA	p.G287D	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	937	-			287			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.860G>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941752	0.18281	.	.	ENSG00000161850	ENST00000257974	D	0.88431	-2.38	5.18	3.33	0.38152	Filament (1);	0.742908	0.11887	N	0.519972	D	0.85168	0.5635	L	0.47190	1.495	0.29293	N	0.869238	B	0.20887	0.049	B	0.25405	0.06	T	0.77736	-0.2476	10	0.49607	T	0.09	.	9.2724	0.37679	0.0:0.7772:0.0:0.2228	.	287	Q9NSB4	KRT82_HUMAN	D	287	ENSP00000257974:G287D	ENSP00000257974:G287D	G	-	2	0	KRT82	51080118	0.663000	0.27448	0.549000	0.28204	0.082000	0.17680	1.138000	0.31491	0.677000	0.31305	0.561000	0.74099	GGC		0.617	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		3	52	0	0	0	1	0	3	52					T	52793851	C	T	52793851	3	4	469	1	0	0	0	0	1	0	0	0	8496	739	26	2	701	2	KRT82	12	52793851	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	51801221	52793851	81058044	29	38661											
FZD10	11211	broad.mit.edu	37	chr12	130649165	130649165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgggatttacaaaaaaGcccagcatccccagaaaact	9	11	0	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:130649165G>A	ENST00000229030.4	+	1	2162	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	FZD10_ENST00000539839.1_3'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	560					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTACAAAAAAGCCCAGCATCC	0.592																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1678-1680)Gcc>Acc		frizzled family receptor 10							30	35	33					12																	130649165		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649165G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1678G>A	12.37:g.130649165G>A	ENSP00000229030:p.Ala560Thr					FZD10_ENST00000539839.1_3'UTR	p.A560T			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2162	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		560						Missense_Mutation	SNP	ENST00000229030.4	37	c.1678G>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897171	0.33535	.	.	ENSG00000111432	ENST00000229030	T	0.76316	-1.01	4.69	3.73	0.42828	.	0.511690	0.17560	U	0.169858	T	0.57095	0.2030	N	0.14661	0.345	0.35758	D	0.819923	B	0.02656	0.0	B	0.01281	0.0	T	0.56980	-0.7889	10	0.19147	T	0.46	.	7.4511	0.27240	0.0977:0.3651:0.5372:0.0	.	560	Q9ULW2	FZD10_HUMAN	T	560	ENSP00000229030:A560T	ENSP00000229030:A560T	A	+	1	0	FZD10	129215118	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.043000	0.41231	2.127000	0.65507	0.561000	0.74099	GCC		0.592	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	17	0	0	0	1	0	7	17					A	130649165	G	A	130649165	3	1	469	1	0	0	0	0	1	0	0	0	6129	971	34	2	1680	2	FZD10	12	130649165	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	77855314	130649165	3202730	30	38662											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0	rs201542496		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	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	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	51	0	0	0	1	0	4	51					C	20056686	T	C	20056686	5	2	469	1	0	0	0	0	0	0	1	0	16428	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		20056686	95113192	31	38663											
GAS6	2621	broad.mit.edu	37	chr13	114531573	114531573	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acctcccacggtcaggttcaGatgatacagtcctcgctccg	9	15	2	2	rs149411733		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:114531573G>C	ENST00000327773.6	-	11	1401	c.1255C>G	c.(1255-1257)Ctg>Gtg	p.L419V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6_ENST00000357389.3_Missense_Mutation_p.L462V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	462	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)				GTCAGGTTCAGATGATACAGT	0.577																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(1384-1386)Ctg>Gtg		growth arrest-specific 6			VAL/LEU,VAL/LEU,VAL/LEU	0,4406		0,0,2203	153	132	139		1255,436,358	3.9	0.9	13	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	GAS6	NM_000820.2,NM_001143945.1,NM_001143946.1	32,32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	419/679,146/406,120/380	114531573	1,13005	2203	4300	6503	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114531573G>C		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.1255C>G	13.37:g.114531573G>C	ENSP00000331831:p.Leu419Val					GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.L419V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V	p.L462V			Q14393	GAS6_HUMAN			11	1536	-	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)	462			Laminin G-like 1.		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.1384C>G	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	g	15.21	2.764697	0.49574	0.0	1.16E-4	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.83	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	T	0.80276	0.4593	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.76494	0.992;0.977;0.999	P;P;D	0.83275	0.889;0.872;0.996	T	0.75733	-0.3214	9	0.11794	T	0.64	-23.275	11.1322	0.48354	0.0965:0.0:0.9035:0.0	.	462;146;419	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	V	462;365;146;120;419	ENSP00000349962:L462V;ENSP00000348003:L365V;ENSP00000416498:L146V;ENSP00000400117:L120V;ENSP00000331831:L419V	ENSP00000331831:L419V	L	-	1	2	GAS6	113582370	1.000000	0.71417	0.895000	0.35142	0.125000	0.20455	3.650000	0.54424	0.920000	0.36970	0.550000	0.68814	CTG		0.577	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		22	51	0	0	0	1	0	22	51					C	114531573	G	C	114531573	3	2	469	1	0	0	0	0	1	0	0	0	6249	933	33	4	801	4	GAS6	13	114531573	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	94474887	114531573	638305	32	38664											
ZFYVE1	53349	broad.mit.edu	37	chr14	73464558	73464558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacggtctcatggaagaTgataactgcagggcccagtg	14	9	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:73464558T>C	ENST00000556143.1	-	3	1669	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	317					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)			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)		TCATGGAAGATGATAACTGCA	0.537																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(949-951)Atc>Gtc		zinc finger, FYVE domain containing 1							63	55	58					14																	73464558		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464558T>C	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.949A>G	14.37:g.73464558T>C	ENSP00000450742:p.Ile317Val					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V	p.I317V	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1669	-		all_lung(585;1.33e-09)	317					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.949A>G	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939167	0.52972	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.65178	-0.14;-0.13;-0.13	5.81	5.81	0.92471	.	0.050299	0.85682	D	0.000000	T	0.63686	0.2532	L	0.46741	1.465	0.80722	D	1	P;B	0.38473	0.633;0.449	P;B	0.45119	0.47;0.2	T	0.61113	-0.7128	10	0.32370	T	0.25	-14.9162	16.1564	0.81670	0.0:0.0:0.0:1.0	.	317;317	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	V	317	ENSP00000452442:I317V;ENSP00000326921:I317V;ENSP00000450742:I317V	ENSP00000326921:I317V	I	-	1	0	ZFYVE1	72534311	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.017000	0.64047	2.228000	0.72767	0.477000	0.44152	ATC		0.537	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		14	21	0	0	0	1	0	14	21					C	73464558	T	C	73464558	3	2	469	1	0	0	0	0	1	0	0	0	17660	1464	51	3	1424	3	ZFYVE1	14	73464558	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		73464558	33884982	33	38665											
C14orf115	55237	broad.mit.edu	37	chr14	74824505	74824505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttcctccagcggttccCggagatctcccgctcaacct	9	17	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:74824505C>T	ENST00000256362.4	+	2	1260	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	340					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						CAGCGGTTCCCGGAGATCTCC	0.662																																						ENST00000256362.4																			0				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						c.(1018-1020)cCg>cTg		vertebrae development associated							50	54	53					14																	74824505		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824505C>T	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.1019C>T	14.37:g.74824505C>T	ENSP00000256362:p.Pro340Leu						p.P340L	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1260	+			340					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1019C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483311	0.63962	.	.	ENSG00000133980	ENST00000256362	D	0.84800	-1.9	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89846	0.4006	10	0.87932	D	0	-5.4683	16.6804	0.85290	0.0:1.0:0.0:0.0	.	340	Q9H8Y1	VRTN_HUMAN	L	340	ENSP00000256362:P340L	ENSP00000256362:P340L	P	+	2	0	VRTN	73894258	1.000000	0.71417	0.981000	0.43875	0.320000	0.28249	6.940000	0.75917	2.602000	0.87976	0.561000	0.74099	CCG		0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		29	37	0	0	0	1	0	29	37					T	74824505	C	T	74824505	3	4	469	1	0	0	0	0	1	0	0	0	1740	652	23	1	1021	1	C14orf115	14	74824505	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	1359947	74824505	32525035	34	38666											
OTUB2	78990	broad.mit.edu	37	chr14	94503790	94503790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccattcttcgggaccatcCtgaaaacaggatttaccgga	8	11	1	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:94503790C>T	ENST00000203664.5	+	2	277	c.68C>T	c.(67-69)cCt>cTt	p.P23L	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	23					cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CGGGACCATCCTGAAAACAGG	0.438											OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000203664.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(67-69)cCt>cTt		OTU domain, ubiquitin aldehyde binding 2							68	68	68					14																	94503790		2203	4300	6503	SO:0001583	missense	78990				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity	g.chr14:94503790C>T	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"OTU domain containing"	20351	protein-coding gene	gene with protein product		608338	"chromosome 14 open reading frame 137", "OTU domain, ubiquitin aldehyde binding 2"	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.68C>T	14.37:g.94503790C>T	ENSP00000203664:p.Pro23Leu		OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	163	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	2	277	+		all_cancers(154;0.12)	23					Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	c.68C>T	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486538	0.44249	.	.	ENSG00000089723	ENST00000203664;ENST00000553723	T;T	0.39229	1.09;1.09	5.77	4.88	0.63580	.	0.224065	0.40640	N	0.001041	T	0.29684	0.0741	N	0.25201	0.72	0.47094	D	0.99931	B	0.24317	0.101	B	0.23150	0.044	T	0.06789	-1.0807	10	0.33141	T	0.24	-0.3216	12.8966	0.58104	0.0:0.9213:0.0:0.0787	.	23	Q96DC9	OTUB2_HUMAN	L	23	ENSP00000203664:P23L;ENSP00000451283:P23L	ENSP00000203664:P23L	P	+	2	0	OTUB2	93573543	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.150000	0.58098	1.586000	0.49944	-0.136000	0.14681	CCT		0.438	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			37	36	0	0	0	1	0	37	36					T	94503790	C	T	94503790	3	4	469	1	0	0	0	0	1	0	0	0	11312	681	24	2	74	2	OTUB2	14	94503790	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	19679285	94503790	12845750	35	38667											
TP53	7157	broad.mit.edu	37	chr17	7578418	7578418	+	Frame_Shift_Del	DEL	T	T	-													gggggcagcgcctcacaaccTccgtcatgtgctgtgactgc							TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:7578418delT	ENST00000269305.4	-	5	701	c.512delA	c.(511-513)gagfs	p.E171fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E171fs	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	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|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 -> Q (in a sporadic cancer; 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.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(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)	CCTCACAACCTCCGTCATGTG	0.662		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		29	Deletion - Frameshift(11)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - In frame(4)	p.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(1)	breast(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|stomach(3)|oesophagus(2)|liver(2)|lung(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(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						c.(511-513)ggfs	Other conserved DNA damage response genes	tumor protein p53							52	52	52					17																	7578418		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578418delT	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.512delA	17.37:g.7578418delT	ENSP00000269305:p.Glu171fs	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)				TP53_ENST00000269305.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs	p.E171fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	644	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	171		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 -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.512delA	CCDS11118.1																																																																																				0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		78	8						78	8	---	---	---	---	-	7578418	T	-	7578418	7	5	469	1	0	1	0	1	0	0	0	0	16378	1551	54	0	786	0	TP53	17	7578418	Frame_Shift_Del	DEL	T	TCGA-TM-A84H-01A-11D-A36O-08		7578418	73616792	36	38668											
RAI1	10743	broad.mit.edu	37	chr17	17698028	17698028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttctccaagttcgtggCgggtgagcgggactgtccgc	15	12	1	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:17698028C>T	ENST00000353383.1	+	3	2235	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	589					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGTTCGTGGCGGGTGAGCGG	0.632																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(1765-1767)gCg>gTg		retinoic acid induced 1							64	65	65					17																	17698028		2200	4291	6491	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698028C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1766C>T	17.37:g.17698028C>T	ENSP00000323074:p.Ala589Val					RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2235	+			589					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1766C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666659	0.47677	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69926	-0.44;2.29;0.15	5.18	5.18	0.71444	.	0.172767	0.40640	N	0.001046	T	0.56187	0.1968	L	0.54323	1.7	0.30361	N	0.783856	P	0.42161	0.772	B	0.27262	0.078	T	0.66834	-0.5823	10	0.51188	T	0.08	.	14.3492	0.66688	0.0:0.7265:0.2735:0.0	.	589	Q7Z5J4	RAI1_HUMAN	V	589;589;589;589;589;541	ENSP00000323074:A589V;ENSP00000379120:A589V;ENSP00000261641:A589V	ENSP00000261641:A589V	A	+	2	0	RAI1	17638753	0.927000	0.31430	0.938000	0.37757	0.950000	0.60333	1.737000	0.38197	2.423000	0.82170	0.561000	0.74099	GCG		0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		19	58	0	0	0	1	0	19	58					T	17698028	C	T	17698028	3	4	469	1	0	0	0	0	1	0	0	0	13007	768	27	1	1768	1	RAI1	17	17698028	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	10119610	17698028	63497182	37	38669											
DNAH17	8632	broad.mit.edu	37	chr17	76464785	76464785	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggacttgacttggggtcGcatggaggagatgatgttct	16	5	1	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:76464785G>A	ENST00000585328.1	-	55	8801	c.8677C>T	c.(8677-8679)Cga>Tga	p.R2893*	DNAH17_ENST00000389840.5_Nonsense_Mutation_p.R2884*|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2884	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGGGGTCGCATGGAGGAG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8650-8652)Cga>Tga		dynein, axonemal, heavy chain 17							80	82	81					17																	76464785		2002	4176	6178	SO:0001587	stop_gained	8632							g.chr17:76464785G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8677C>T	17.37:g.76464785G>A	ENSP00000465516:p.Arg2893*					DNAH17_ENST00000585328.1_Nonsense_Mutation_p.R2893*|DNAH17_ENST00000586052.1_5'UTR	p.R2884*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8774	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.8650C>T		.	.	.	.	.	.	.	.	.	.	G	50	17.205650	0.99881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.84	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6707	0.23066	0.0:0.1283:0.5307:0.3409	.	.	.	.	X	2893;2884	.	ENSP00000300671:R2893X	R	-	1	2	DNAH17	73976380	0.999000	0.42202	1.000000	0.80357	0.787000	0.44495	1.150000	0.31639	2.246000	0.74042	0.650000	0.86243	CGA		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		17	70	0	0	0	1	0	17	70					A	76464785	G	A	76464785	4	1	469	1	0	0	0	0	0	1	0	0	4601	1095	38	1	4804	1	DNAH17	17	76464785	Nonsense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	58766757	76464785	4730425	38	38670											
DSG2	1829	broad.mit.edu	37	chr18	29126227	29126227	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctagccagccacagAgccttattgtgacagagagg	13	10	0	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:29126227A>T	ENST00000261590.8	+	15	3087	c.2878A>T	c.(2878-2880)Agc>Tgc	p.S960C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	960					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)			CCAGCCACAGAGCCTTATTGT	0.473																																						ENST00000261590.8																			0				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						c.(2878-2880)Agc>Tgc		desmoglein 2							108	109	109					18																	29126227		1981	4163	6144	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126227A>T	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.2878A>T	18.37:g.29126227A>T	ENSP00000261590:p.Ser960Cys					RP11-75N4.2_ENST00000583706.1_RNA	p.S960C	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3087	+			960					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2878A>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720372	0.68959	.	.	ENSG00000046604	ENST00000261590	T	0.77229	-1.08	5.16	2.05	0.26809	.	0.490245	0.20583	N	0.089496	T	0.69540	0.3122	L	0.43152	1.355	0.80722	D	1	P	0.49358	0.923	B	0.43916	0.436	T	0.69003	-0.5260	10	0.87932	D	0	.	7.842	0.29403	0.8275:0.0:0.1725:0.0	.	960	Q14126	DSG2_HUMAN	C	960	ENSP00000261590:S960C	ENSP00000261590:S960C	S	+	1	0	DSG2	27380225	0.056000	0.20664	0.895000	0.35142	0.902000	0.53008	1.618000	0.36954	0.689000	0.31550	0.533000	0.62120	AGC		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		18	29	0	0	0	1	0	18	29					T	29126227	A	T	29126227	3	4	469	1	0	0	0	0	1	0	0	0	4777	304	11	5	2936	5	DSG2	18	29126227	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08		29126227	48951021	39	38671											
MUC16	94025	broad.mit.edu	37	chr19	9069138	9069138	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagacctcagtagcagcaTccagggacacactggagaaa	12	10	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9069138T>G	ENST00000397910.4	-	3	18511	c.18308A>C	c.(18307-18309)gAt>gCt	p.D6103A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6105	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						AGTAGCAGCATCCAGGGACAC	0.498																																						ENST00000397910.4																			0				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						c.(18307-18309)gAt>gCt		mucin 16, cell surface associated							66	73	71					19																	9069138		2084	4221	6305	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069138T>G	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.18308A>C	19.37:g.9069138T>G	ENSP00000381008:p.Asp6103Ala						p.D6103A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18511	-			6105			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18308A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.069	-1.207390	0.01568	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.11	-2.23	0.06930	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.41592	-0.9500	8	0.87932	D	0	.	3.6506	0.08202	0.0:0.2968:0.205:0.4982	.	6103	B5ME49	.	A	6103	ENSP00000381008:D6103A	ENSP00000381008:D6103A	D	-	2	0	MUC16	8930138	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-4.754000	0.00190	-2.145000	0.00801	-1.278000	0.01390	GAT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	24	0	0	0	1	0	3	24					G	9069138	T	G	9069138	3	3	469	1	0	0	0	0	1	0	0	0	9973	1435	50	5	25543	5	MUC16	19	9069138	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		9069138	50059845	40	38672											
MUC16	94025	broad.mit.edu	37	chr19	9073357	9073357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtttccaaggttgatgtgtCtaaggcaagtggaatctttg	13	5	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9073357C>G	ENST00000397910.4	-	3	14292	c.14089G>C	c.(14089-14091)Gac>Cac	p.D4697H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4699	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.D4697Y(2)|p.D330Y(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						GTTGATGTGTCTAAGGCAAGT	0.473																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.D4697Y(2)|p.D330Y(1)	large_intestine(3)	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						c.(14089-14091)Gac>Cac		mucin 16, cell surface associated							184	172	176					19																	9073357		1945	4149	6094	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073357C>G	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.14089G>C	19.37:g.9073357C>G	ENSP00000381008:p.Asp4697His						p.D4697H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14292	-			4699			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14089G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.721	0.501776	0.12822	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	1.8	-0.635	0.11512	.	.	.	.	.	T	0.25865	0.0630	L	0.39898	1.24	.	.	.	D	0.71674	0.998	P	0.54238	0.746	T	0.28996	-1.0026	8	0.87932	D	0	.	2.1919	0.03901	0.3045:0.4965:0.0:0.1991	.	4697	B5ME49	.	H	4697	ENSP00000381008:D4697H	ENSP00000381008:D4697H	D	-	1	0	MUC16	8934357	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	0.167000	0.16602	-0.093000	0.12396	0.313000	0.20887	GAC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	109	0	0	0	1	0	6	109					G	9073357	C	G	9073357	3	3	469	1	0	0	0	0	1	0	0	0	9973	913	32	4	29762	4	MUC16	19	9073357	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	4219	9073357	50055626	41	38673											
SMARCA4	6597	broad.mit.edu	37	chr19	11138480	11138480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggacctgtaccgagcctCgggtaaatttgagcttcttg	12	10	1	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:11138480C>T	ENST00000429416.3	+	25	3517	c.3236C>T	c.(3235-3237)tCg>tTg	p.S1079L	SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1079					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.?(2)		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)				TACCGAGCCTCGGGTAAATTT	0.532			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		2	Unknown(2)	p.?(2)	lung(2)	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						c.(3235-3237)tCg>tTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							88	92	91					19																	11138480		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138480C>T	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.3236C>T	19.37:g.11138480C>T	ENSP00000395654:p.Ser1079Leu					SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L	p.S1079L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			24	3520	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1079					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3236C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186085	0.94885	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.91991	0.7463	H	0.97023	3.925	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.997;0.997;0.997;1.0;1.0;0.997;0.997	D;D;D;D;D;D;D;D	0.70716	0.914;0.914;0.914;0.914;0.97;0.955;0.914;0.914	D	0.94474	0.7687	10	0.87932	D	0	-15.1767	17.3259	0.87246	0.0:1.0:0.0:0.0	.	1079;1079;1079;1079;1079;299;1079;1079	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	1079;1079;1143;1079;1079;1079;1079;1079	ENSP00000395654:S1079L;ENSP00000350720:S1079L;ENSP00000343896:S1079L;ENSP00000445036:S1079L;ENSP00000392837:S1079L;ENSP00000397783:S1079L;ENSP00000414727:S1079L	ENSP00000343896:S1079L	S	+	2	0	SMARCA4	10999480	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	7.367000	0.79558	2.617000	0.88574	0.655000	0.94253	TCG		0.532	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		60	59	0	0	0	1	0	60	59					T	11138480	C	T	11138480	3	4	469	1	0	0	0	0	1	0	0	0	14770	893	31	1	3326	1	SMARCA4	19	11138480	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	2065123	11138480	47990503	42	38674											
ZNF99	7652	broad.mit.edu	37	chr19	22941413	22941413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagaaacgcttaaaaGctttgccacattcttcacat	8	10	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:22941413G>T	ENST00000596209.1	-	4	1388	c.1298C>A	c.(1297-1299)gCt>gAt	p.A433D	ZNF99_ENST00000397104.3_Missense_Mutation_p.A342D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	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)			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)				ACGCTTAAAAGCTTTGCCACA	0.363																																						ENST00000397104.3																			0				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						c.(1024-1026)gCt>gAt		zinc finger protein 99							54	56	56					19																	22941413		2039	4219	6258	SO:0001583	missense	7652							g.chr19:22941413G>T	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.1298C>A	19.37:g.22941413G>T	ENSP00000472969:p.Ala433Asp					ZNF99_ENST00000596209.1_Missense_Mutation_p.A433D	p.A342D							5	1024	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1025C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	10.83	1.462496	0.26248	.	.	ENSG00000213973	ENST00000397104	T	0.17213	2.29	1.28	-1.38	0.09027	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25494	0.0620	L	0.49699	1.58	0.09310	N	1	D	0.63880	0.993	D	0.64776	0.929	T	0.14699	-1.0463	9	0.72032	D	0.01	.	2.6621	0.05029	0.4174:0.2621:0.3205:0.0	.	342	A8MXY4	ZNF99_HUMAN	D	342	ENSP00000380293:A342D	ENSP00000380293:A342D	A	-	2	0	ZNF99	22733253	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.091000	0.03369	-0.133000	0.11537	-0.512000	0.04463	GCT		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		30	34	1	0	4.74835e-14	1	5.14405e-14	30	34					T	22941413	G	T	22941413	3	4	469	1	0	0	0	0	1	0	0	0	18201	971	34	4	2099	4	ZNF99	19	22941413	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	11802933	22941413	36187570	43	38675											
ZNF175	7728	broad.mit.edu	37	chr19	52091455	52091455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaatgtgggaaggcttTtgtccagaaatcagagttga	11	5	1	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:52091455T>C	ENST00000262259.2	+	5	2229	c.1871T>C	c.(1870-1872)tTt>tCt	p.F624S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	624					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGGAAGGCTTTTGTCCAGAAA	0.423																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1870-1872)tTt>tCt		zinc finger protein 175							122	131	128					19																	52091455		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091455T>C	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1871T>C	19.37:g.52091455T>C	ENSP00000262259:p.Phe624Ser					ZNF175_ENST00000436511.2_Intron	p.F624S	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	2229	+		all_neural(266;0.0299)	624					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1871T>C	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	T	8.063	0.768638	0.15983	.	.	ENSG00000105497	ENST00000262259	T	0.44482	0.92	2.25	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64713	0.2623	M	0.91406	3.205	0.80722	D	1	D	0.58268	0.982	D	0.63033	0.91	T	0.69723	-0.5068	9	0.87932	D	0	.	8.4065	0.32619	0.0:0.0:0.0:1.0	.	624	Q9Y473	ZN175_HUMAN	S	624	ENSP00000262259:F624S	ENSP00000262259:F624S	F	+	2	0	ZNF175	56783267	0.974000	0.33945	0.003000	0.11579	0.168000	0.22595	2.316000	0.43761	1.296000	0.44742	0.533000	0.62120	TTT		0.423	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		24	86	0	0	0	1	0	24	86					C	52091455	T	C	52091455	3	2	469	1	0	0	0	0	1	0	0	0	17742	1841	64	3	1885	3	ZNF175	19	52091455	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	29150042	52091455	7037528	44	38676											
NFATC2	4773	broad.mit.edu	37	chr20	50158922	50158922	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caccgaccttcgttcggattCaaatactcatagtcgaagag	8	11	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:50158922C>G	ENST00000396009.3	-	1	336	c.117G>C	c.(115-117)ttG>ttC	p.L39F	NFATC2_ENST00000371564.3_Missense_Mutation_p.L39F|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000609507.1_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	39					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)					CGTTCGGATTCAAATACTCAT	0.672																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(115-117)ttG>ttC		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							23	27	26					20																	50158922		2201	4300	6501	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50158922C>G	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.117G>C	20.37:g.50158922C>G	ENSP00000379330:p.Leu39Phe					NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.L39F	p.L39F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			1	336	-	Hepatocellular(150;0.248)		39					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.117G>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362042	0.41902	.	.	ENSG00000101096	ENST00000371564;ENST00000396009	T;T	0.15139	2.45;2.45	4.18	4.18	0.49190	.	0.945369	0.08769	N	0.896500	T	0.13756	0.0333	L	0.29908	0.895	0.80722	D	1	B;B	0.27380	0.177;0.087	B;B	0.26310	0.026;0.068	T	0.05971	-1.0853	10	0.09590	T	0.72	-4.5588	13.5813	0.61905	0.0:1.0:0.0:0.0	.	39;39	Q13469;B5B2N8	NFAC2_HUMAN;.	F	39	ENSP00000360619:L39F;ENSP00000379330:L39F	ENSP00000360619:L39F	L	-	3	2	NFATC2	49592329	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.461000	0.45040	2.020000	0.59435	0.455000	0.32223	TTG		0.672	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		13	43	0	0	0	1	0	13	43					G	50158922	C	G	50158922	3	3	469	1	0	0	0	0	1	0	0	0	10362	825	29	4	2748	4	NFATC2	20	50158922	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		50158922	12866598	45	38677											
MYT1	4661	broad.mit.edu	37	chr20	62839165	62839168	+	Frame_Shift_Del	DEL	GCCA	GCCA	-													aggaggctgcagagggagctGccagcgaggagggtgaaaag							TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839165_62839168delGCCA	ENST00000328439.1	+	7	980_983	c.616_619delGCCA	c.(616-621)gccagcfs	p.AS206fs	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Frame_Shift_Del_p.AS206fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGGAGCTGCCAGCGAGGAGGG	0.623																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(616-621)gcfs		myelin transcription factor 1																																				SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839165_62839168delGCCA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.616_619delGCCA	20.37:g.62839165_62839168delGCCA	ENSP00000327465:p.Ala206fs					MYT1_ENST00000328439.1_Frame_Shift_Del_p.AS206fs|MYT1_ENST00000360149.4_Intron	p.AS206fs			Q01538	MYT1_HUMAN			7	980_983	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		206			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Del	DEL	ENST00000328439.1	37	c.616_619delGCCA	CCDS13558.1																																																																																				0.623	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		13	72						13	72	---	---	---	---	-	62839168	GCCA	-	62839165	7	5	469	1	0	1	0	1	0	0	0	0	10106	1319	46	0	634	0	MYT1	20	62839165	Frame_Shift_Del	DEL	GCCA	TCGA-TM-A84H-01A-11D-A36O-08	12680243	62839165	186355	46	38678											
MYT1	4661	broad.mit.edu	37	chr20	62839435	62839440	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-													aggaggaagaggaagaggagGaggaagaggaagaggaagag					rs143133195|rs537698482	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839435_62839440delGAGGAA	ENST00000328439.1	+	7	1250_1255	c.886_891delGAGGAA	c.(886-891)gaggaadel	p.EE304del	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_In_Frame_Del_p.EE304del	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaagaggaggaggaagaggaagagg	0.587														14	0.00279553	0.0083	0.0	5008	,	,		15979	0.0		0.001	False		,,,				2504	0.002				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(886-891)del		myelin transcription factor 1				32,4232		0,32,2100						-3.2	0			47	19,8235		1,17,4109	no	coding	MYT1	NM_004535.2		1,49,6209	A1A1,A1R,RR		0.2302,0.7505,0.4074				51,12467				SO:0001651	inframe_deletion	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839435_62839440delGAGGAA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.886_891delGAGGAA	20.37:g.62839441_62839446delGAGGAA	ENSP00000327465:p.Glu304_Glu305del					MYT1_ENST00000328439.1_In_Frame_Del_p.EE304del|MYT1_ENST00000360149.4_Intron	p.EE304del			Q01538	MYT1_HUMAN			7	1250_1255	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		304			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	In_Frame_Del	DEL	ENST00000328439.1	37	c.886_891delGAGGAA	CCDS13558.1																																																																																				0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		16	61						16	61	---	---	---	---	-	62839440	GAGGAA	-	62839435	7	5	469	1	0	1	0	1	0	0	0	0	10106	1175	41	0	904	0	MYT1	20	62839435	In_Frame_Del	DEL	GAGGAA	TCGA-TM-A84H-01A-11D-A36O-08	270	62839435	186085	47	38679											
PCMTD2	55251	broad.mit.edu	37	chr20	62896749	62896749	+	Frame_Shift_Del	DEL	G	G	-													atgaagaatcttctcaaagtGggagggatccttgtcatgcc							TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62896749delG	ENST00000308824.6	+	4	676	c.549delG	c.(547-549)gtgfs	p.V183fs	PCMTD2_ENST00000369758.4_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000609372.1_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	183						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			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)					TTCTCAAAGTGGGAGGGATCC	0.488																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(547-549)gtfs		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							157	138	144					20																	62896749		2203	4300	6503	SO:0001589	frameshift_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62896749delG	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.549delG	20.37:g.62896749delG	ENSP00000307854:p.Val183fs					PCMTD2_ENST00000369758.3_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs	p.V183fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			4	676	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		183					E1P5H3|Q8IW60|Q9H4K2	Frame_Shift_Del	DEL	ENST00000308824.6	37	c.549delG	CCDS13559.1																																																																																				0.488	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		21	93						21	93	---	---	---	---	-	62896749	G	-	62896749	7	5	469	1	0	1	0	1	0	0	0	0	11587	1335	47	0	559	0	PCMTD2	20	62896749	Frame_Shift_Del	DEL	G	TCGA-TM-A84H-01A-11D-A36O-08	57314	62896749	128771	48	38680											
ZFX	7543	broad.mit.edu	37	chrX	24197760	24197760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgatcctctgactacCgacgtagtttcagaagaagt	9	10	3	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:24197760C>T	ENST00000379177.1	+	6	946	c.519C>T	c.(517-519)acC>acT	p.T173T	ZFX_ENST00000459724.1_Intron|ZFX_ENST00000338565.3_Silent_p.T173T|ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	173					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						CTCTGACTACCGACGTAGTTT	0.463																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(517-519)acC>acT		zinc finger protein, X-linked							207	169	182					X																	24197760		2203	4300	6503	SO:0001819	synonymous_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24197760C>T		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.519C>T	X.37:g.24197760C>T						ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T|ZFX_ENST00000338565.3_Silent_p.T173T	p.T173T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			6	946	+			173					B9EG97|O43668|Q8WYJ8	Silent	SNP	ENST00000379177.1	37	c.519C>T	CCDS14211.1																																																																																				0.463	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	96	0	0	0	1	0	7	96					T	24197760	C	T	24197760	2	4	469	1	0	0	0	0	0	0	0	1	17658	639	23	1		1	ZFX	23	24197760	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		24197760	131072800	49	38681											
DMD	1756	broad.mit.edu	37	chrX	32459327	32459327	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagatttcctcagctccGccaggaatgttttcagtggt	10	10	3	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:32459327G>A	ENST00000357033.4	-	28	4097	c.3891C>T	c.(3889-3891)ggC>ggT	p.G1297G	DMD_ENST00000378677.2_Silent_p.G1293G	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	1297					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)	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)		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)				CCTCAGCTCCGCCAGGAATGT	0.353																																						ENST00000357033.4																			3	Substitution - coding silent(3)	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)	endometrium(3)	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						c.(3889-3891)ggC>ggT		dystrophin							75	73	74					X																	32459327		2201	4300	6501	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32459327G>A	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.3891C>T	X.37:g.32459327G>A						DMD_ENST00000378677.2_Silent_p.G1293G	p.G1297G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			28	4097	-		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)	1297					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.3891C>T	CCDS14233.1																																																																																				0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		31	15	0	0	0	1	0	31	15					A	32459327	G	A	32459327	2	1	469	1	0	0	0	0	0	0	0	1	4580	1074	38	1		1	DMD	23	32459327	Silent	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	8261567	32459327	122811233	50	38682											
ACRC	93953	broad.mit.edu	37	chrX	70824520	70824520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaaaatgtatctgtgAcacctggtaagccagtcatg	8	9	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:70824520A>G	ENST00000373695.1	+	7	1930	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	ACRC_ENST00000373696.3_Missense_Mutation_p.T465A			Q96QF7	ACRC_HUMAN	acidic repeat containing	465	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)					TGTATCTGTGACACCTGGTAA	0.473																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1393-1395)Aca>Gca		acidic repeat containing							46	38	41					X																	70824520		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824520A>G	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.1393A>G	X.37:g.70824520A>G	ENSP00000362799:p.Thr465Ala					ACRC_ENST00000373696.3_Missense_Mutation_p.T465A	p.T465A			Q96QF7	ACRC_HUMAN			7	1930	+	Renal(35;0.156)		465			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1393A>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632613	0.29068	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32988	1.43;1.43	3.71	-7.41	0.01392	.	.	.	.	.	T	0.13457	0.0326	L	0.27053	0.805	0.09310	N	1	B	0.22346	0.068	B	0.17722	0.019	T	0.24905	-1.0147	9	0.13853	T	0.58	.	3.7848	0.08695	0.1777:0.5084:0.1875:0.1264	.	465	Q96QF7	ACRC_HUMAN	A	465	ENSP00000362800:T465A;ENSP00000362799:T465A	ENSP00000362799:T465A	T	+	1	0	ACRC	70741245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.385000	0.02540	-2.229000	0.00720	-1.341000	0.01249	ACA		0.473	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	13	0	0	0	1	0	8	13					G	70824520	A	G	70824520	3	3	469	1	0	0	0	0	1	0	0	0	171	275	10	3	1419	3	ACRC	23	70824520	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	38365193	70824520	84446040	51	38683											
BHLHB9	80823	broad.mit.edu	37	chrX	102004758	102004758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgctcacagcctatcCctgagtgtcgttttgattct	8	12	3	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:102004758C>T	ENST00000372735.1	+	4	1420	c.835C>T	c.(835-837)Cct>Tct	p.P279S	BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	279					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCCTATCCCTGAGTGTCG	0.483																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(835-837)Cct>Tct		basic helix-loop-helix domain containing, class B, 9							75	67	70					X																	102004758		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004758C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.835C>T	X.37:g.102004758C>T	ENSP00000361820:p.Pro279Ser					BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S	p.P279S			Q6PI77	BHLH9_HUMAN			4	1420	+			279					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.835C>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.577	-0.838713	0.02692	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.47	0.411	0.16392	.	1.012730	0.07924	N	0.976348	T	0.17023	0.0409	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.34378	-0.9831	9	.	.	.	-2.5736	3.9505	0.09368	0.0:0.461:0.1915:0.3476	.	279	Q6PI77	BHLH9_HUMAN	S	279	ENSP00000403226:P279S;ENSP00000354675:P279S;ENSP00000405893:P279S;ENSP00000391722:P279S;ENSP00000361820:P279S	.	P	+	1	0	BHLHB9	101891414	0.043000	0.20138	0.001000	0.08648	0.007000	0.05969	0.403000	0.20982	-0.070000	0.12908	-0.191000	0.12829	CCT		0.483	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		54	63	0	0	0	1	0	54	63					T	102004758	C	T	102004758	3	4	469	1	0	0	0	0	1	0	0	0	1420	623	22	2	837	2	BHLHB9	23	102004758	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	31180238	102004758	53265802	52	38684											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299816	125299816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggcccctctccgtccGccgccgctaaaccctgcgac	10	20	1	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:125299816G>A	ENST00000360028.2	-	1	118	c.92C>T	c.(91-93)gCg>gTg	p.A31V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A31V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										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						CTCTCCGTCCGCCGCCGCTAA	0.701																																						ENST00000538699.1																			0				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						c.(91-93)gCg>gTg		DDB1 and CUL4 associated factor 12-like 2							9	11	10					X																	125299816		1881	3800	5681	SO:0001583	missense	340578							g.chrX:125299816G>A	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.92C>T	X.37:g.125299816G>A	ENSP00000353128:p.Ala31Val					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31V	p.A31V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	172	-			31					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.92C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.613	1.131850	0.21041	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.20200	2.09;2.09	3.0	0.0855	0.14442	.	.	.	.	.	T	0.09423	0.0232	L	0.31294	0.92	0.09310	N	1	P	0.44734	0.842	B	0.32342	0.144	T	0.21552	-1.0242	9	0.30854	T	0.27	.	2.663	0.05032	0.3964:0.0:0.3902:0.2134	.	31	Q5VW00	DC122_HUMAN	V	31	ENSP00000441489:A31V;ENSP00000353128:A31V	ENSP00000353128:A31V	A	-	2	0	DCAF12L2	125127497	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.118000	0.10692	-0.100000	0.12241	0.287000	0.19450	GCG		0.701	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		14	22	0	0	0	1	0	14	22					A	125299816	G	A	125299816	3	1	469	1	0	0	0	0	1	0	0	0	4265	1087	38	1	1303	1	DCAF12L2	23	125299816	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	23295058	125299816	29970744	53	38685											
F8	2157	broad.mit.edu	37	chrX	154157391	154157391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagggaacttttccaggtctGtttgcttcattccacttaat	7	9	2	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:154157391G>C	ENST00000360256.4	-	14	4874	c.4674C>G	c.(4672-4674)aaC>aaG	p.N1558K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1558	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCAGGTCTGTTTGCTTCAT	0.493																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4672-4674)aaC>aaG		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						136	133	134					X																	154157391		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157391G>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4674C>G	X.37:g.154157391G>C	ENSP00000353393:p.Asn1558Lys						p.N1558K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4874	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1558			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4674C>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.645528	0.00111	.	.	ENSG00000185010	ENST00000360256	D	0.99014	-5.33	5.32	-9.83	0.00482	.	1.012530	0.07888	N	0.970641	D	0.96281	0.8787	L	0.55103	1.725	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	D	0.87440	0.2394	10	0.27082	T	0.32	-1.1243	8.9475	0.35767	0.2961:0.2265:0.4774:0.0	.	1558	P00451	FA8_HUMAN	K	1558	ENSP00000353393:N1558K	ENSP00000353393:N1558K	N	-	3	2	F8	153810585	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.365000	0.07573	-1.663000	0.01481	-1.364000	0.01208	AAC		0.493	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			37	154	0	0	0	1	0	37	154					C	154157391	G	C	154157391	3	2	469	1	0	0	0	0	1	0	0	0	5350	1368	48	4	2461	4	F8	23	154157391	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	28857575	154157391	1113169	54	38686											
SAMD11	148398	broad.mit.edu	37	chr1	879504	879505	+	Frame_Shift_Ins	INS	-	-	C													cttggctctacttccaggggINScccccgacccttcccagcct							TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:879504_879505insC	ENST00000342066.3	+	14	2100_2101	c.2017_2018insC	c.(2017-2019)gccfs	p.A673fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	673					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTTCCAGGGGCCCCCGACCCT	0.653																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(2017-2019)cccfs		sterile alpha motif domain containing 11																																				SO:0001589	frameshift_variant	148398					nucleus		g.chr1:879504_879505insC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.2022dupC	1.37:g.879509_879509dupC	ENSP00000342313:p.Ala673fs						p.P673fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	2100_2101	+	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)	673					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Ins	INS	ENST00000342066.3	37	c.2017_2018insC	CCDS2.2																																																																																				0.653	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		11	113						11	113	---	---	---	---	C	879505	-	C	879504	7	5	470	1	0	1	1	0	0	0	0	0	13816	1203	42	0	2067	0	SAMD11	1	879504	Frame_Shift_Ins	INS	-	TCGA-TM-A84I-01A-11D-A36O-08		879504	248371117	1	38687											
S100A7A	338324	broad.mit.edu	37	chr1	153391722	153391726	+	Frame_Shift_Del	DEL	CATAG	CATAG	-													tttctgtccttgctgggagaCatagccgcagactaccacaa					rs112079848|rs146240434	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:153391722_153391726delCATAG	ENST00000368729.4	+	3	300_304	c.243_247delCATAG	c.(241-249)gacatagccfs	p.IA82fs	S100A7A_ENST00000329256.2_Frame_Shift_Del_p.IA82fs|S100A7A_ENST00000368728.2_Frame_Shift_Del_p.IA82fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	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)			TGCTGGGAGACATAGCCGCAGACTA	0.517																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(241-249)gaccfs		S100 calcium binding protein A7A																																				SO:0001589	frameshift_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391722_153391726delCATAG	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"S100 calcium binding proteins", "EF-hand domain containing"	21657	protein-coding gene	gene with protein product			"S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1"	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.243_247delCATAG	1.37:g.153391722_153391726delCATAG	ENSP00000357718:p.Ile82fs					S100A7A_ENST00000368728.2_Frame_Shift_Del_p.DIA81fs|S100A7A_ENST00000329256.2_Frame_Shift_Del_p.DIA81fs	p.DIA81fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	300_304	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		81			EF-hand 2.		D3DV38|Q5SY69	Frame_Shift_Del	DEL	ENST00000368729.4	37	c.243_247delCATAG	CCDS30872.1																																																																																				0.517	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		20	40						20	40	---	---	---	---	-	153391726	CATAG	-	153391722	7	5	470	1	0	1	0	1	0	0	0	0	13784	477	17	0	249	0	S100A7A	1	153391722	Frame_Shift_Del	DEL	CATAG	TCGA-TM-A84I-01A-11D-A36O-08	152512218	153391722	95858899	2	38688											
DPT	1805	broad.mit.edu	37	chr1	168698267	168698267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgcccctggggacacTggtagctgaagccttgccgg	13	14	1	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:168698267T>C	ENST00000367817.3	-	1	235	c.146A>G	c.(145-147)cAg>cGg	p.Q49R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	49	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGGGGACACTGGTAGCTGAA	0.552																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(145-147)cAg>cGg		dermatopontin							117	94	102					1																	168698267		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698267T>C	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.146A>G	1.37:g.168698267T>C	ENSP00000356791:p.Gln49Arg						p.Q49R	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	235	-	all_hematologic(923;0.208)		49			2 X 53-55 AA tandem repeats.		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.146A>G	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741256	0.69304	.	.	ENSG00000143196	ENST00000367817	T	0.47528	0.84	5.19	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	M	0.63843	1.955	0.46437	D	0.999044	P	0.46912	0.886	B	0.41813	0.367	T	0.10730	-1.0617	9	0.34782	T	0.22	-8.6251	10.2554	0.43394	0.0:0.0788:0.0:0.9212	.	49	Q07507	DERM_HUMAN	R	49	ENSP00000356791:Q49R	ENSP00000356791:Q49R	Q	-	2	0	DPT	166964891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	0.819000	0.34492	0.533000	0.62120	CAG		0.552	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		5	71	0	0	0	1	0	5	71					C	168698267	T	C	168698267	3	2	470	1	0	0	0	0	1	0	0	0	4739	1580	55	3	475	3	DPT	1	168698267	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	15306545	168698267	80552354	3	38689											
ACOXL	55289	broad.mit.edu	37	chr2	111559245	111559245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtctgcatggtgtggaCaatgggatattaatatttga	12	5	1	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:111559245C>A	ENST00000389811.4	+	8	788	c.564C>A	c.(562-564)gaC>gaA	p.D188E	ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E|ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	188					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGTGTGGACAATGGGATAT	0.453																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(562-564)gaC>gaA		acyl-CoA oxidase-like							148	137	141					2																	111559245		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111559245C>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.564C>A	2.37:g.111559245C>A	ENSP00000374461:p.Asp188Glu					ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E|ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E	p.D188E			Q9NUZ1	ACOXL_HUMAN			8	788	+			188					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.564C>A		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285536	0.59867	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	D;D;D;D	0.99098	-5.42;-5.42;-5.42;-5.42	5.52	-2.98	0.05513	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.181621	0.45361	D	0.000379	D	0.98570	0.9522	M	0.73372	2.23	0.30675	N	0.752926	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.998	D	0.96738	0.9544	10	0.87932	D	0	-38.69	6.0569	0.19816	0.1266:0.4084:0.0:0.465	.	188;188;188	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	E	188;188;39;188;26	ENSP00000374461:D188E;ENSP00000407761:D188E;ENSP00000343717:D188E;ENSP00000387832:D26E	ENSP00000343717:D188E	D	+	3	2	ACOXL	111275716	1.000000	0.71417	0.627000	0.29227	0.684000	0.39900	0.564000	0.23563	-0.820000	0.04318	-0.377000	0.06932	GAC		0.453	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		15	53	1	0	1.3612e-06	1	1.53135e-06	15	53					A	111559245	C	A	111559245	3	1	470	1	0	0	0	0	1	0	0	0	161	477	17	4	590	4	ACOXL	2	111559245	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		111559245	131640128	4	38690											
DPP4	1803	broad.mit.edu	37	chr2	162903987	162903987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttagagtgtaagttttgCgactgtcagctgtagcatca	11	7	2	1	rs201004732	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:162903987C>T	ENST00000360534.3	-	3	679	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	40					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GTAAGTTTTGCGACTGTCAGC	0.343													C|||	2	0.000399361	0.0	0.0	5008	,	,		17441	0.0		0.002	False		,,,				2504	0.0					ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(118-120)cGc>cAc		dipeptidyl-peptidase 4	Sitagliptin(DB01261)	C	HIS/ARG	0,4404		0,0,2202	75	76	75		119	4.8	0.9	2		75	3,8597	2.2+/-6.3	0,3,4297	yes	missense	DPP4	NM_001935.3	29	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	40/767	162903987	3,13001	2202	4300	6502	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162903987C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.119G>A	2.37:g.162903987C>T	ENSP00000353731:p.Arg40His						p.R40H	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			3	679	-			40					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.119G>A	CCDS2216.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.88	3.243492	0.58995	0.0	3.49E-4	ENSG00000197635	ENST00000360534	D	0.96011	-3.88	5.72	4.85	0.62838	.	0.280581	0.39020	N	0.001495	D	0.94301	0.8169	M	0.79475	2.455	0.44862	D	0.997879	B	0.17667	0.023	B	0.12156	0.007	D	0.92262	0.5818	10	0.66056	D	0.02	-2.6232	10.7872	0.46411	0.0:0.913:0.0:0.087	.	40	P27487	DPP4_HUMAN	H	40	ENSP00000353731:R40H	ENSP00000353731:R40H	R	-	2	0	DPP4	162612233	0.898000	0.30612	0.926000	0.36857	0.911000	0.54048	1.763000	0.38461	1.566000	0.49654	0.655000	0.94253	CGC		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			3	36	0	0	0	1	0	3	36					T	162903987	C	T	162903987	3	4	470	1	0	0	0	0	1	0	0	0	4729	768	27	1	2277	1	DPP4	2	162903987	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	51344742	162903987	80295386	5	38691											
LRP2	4036	broad.mit.edu	37	chr2	170101387	170101387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgtcacagcgccagtgTgcaggaatgcactccccatg	11	13	1	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170101387T>C	ENST00000263816.3	-	22	3531	c.3246A>G	c.(3244-3246)gcA>gcG	p.A1082A	LRP2_ENST00000443831.1_Silent_p.A945A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1082	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)"	AGCGCCAGTGTGCAGGAATGC	0.507																																						ENST00000263816.3																			0				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						c.(3244-3246)gcA>gcG		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						198	159	172					2																	170101387		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101387T>C		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.3246A>G	2.37:g.170101387T>C						LRP2_ENST00000443831.1_Silent_p.A945A	p.A1082A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3531	-			1082			LDL-receptor class A 9.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3246A>G	CCDS2232.1																																																																																				0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	73	0	0	0	1	0	5	73					C	170101387	T	C	170101387	2	2	470	1	0	0	0	0	0	0	0	1	8956	1683	59	3		3	LRP2	2	170101387	Silent	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	7197400	170101387	73097986	6	38692											
LRP2	4036	broad.mit.edu	37	chr2	170127551	170127551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaccatgacatcttcctggGtagacaaggtgaacgggatc	12	9	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170127551G>T	ENST00000263816.3	-	16	2468	c.2183C>A	c.(2182-2184)aCc>aAc	p.T728N	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	728					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)"	ATCTTCCTGGGTAGACAAGGT	0.438																																						ENST00000263816.3																			0				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						c.(2182-2184)aCc>aAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						112	94	100					2																	170127551		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170127551G>T		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.2183C>A	2.37:g.170127551G>T	ENSP00000263816:p.Thr728Asn					LRP2_ENST00000443831.1_Intron	p.T728N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2468	-			728					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2183C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369173	0.42003	.	.	ENSG00000081479	ENST00000263816	D	0.91792	-2.91	5.77	1.93	0.25924	Six-bladed beta-propeller, TolB-like (1);	0.164709	0.53938	D	0.000043	D	0.83959	0.5367	L	0.35793	1.09	0.20703	N	0.999867	P	0.40144	0.704	B	0.38378	0.272	T	0.72786	-0.4188	10	0.21540	T	0.41	.	5.1578	0.15044	0.1287:0.1115:0.6326:0.1272	.	728	P98164	LRP2_HUMAN	N	728	ENSP00000263816:T728N	ENSP00000263816:T728N	T	-	2	0	LRP2	169835797	0.995000	0.38212	0.000000	0.03702	0.969000	0.65631	5.478000	0.66806	0.141000	0.18875	0.655000	0.94253	ACC		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		7	27	1	0	5.18039e-06	1	5.709e-06	7	27					T	170127551	G	T	170127551	3	4	470	1	0	0	0	0	1	0	0	0	8956	1261	44	4	12040	4	LRP2	2	170127551	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	26164	170127551	73071822	7	38693											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	34	0	0	0	1	0	33	34					T	209113112	C	T	209113112	3	4	470	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	38985561	209113112	34086261	8	38694											
THUMPD3	25917	broad.mit.edu	37	chr3	9412772	9412772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaggattttgaagactTggctggaaaactcccatggt	10	7	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:9412772T>C	ENST00000345094.3	+	4	693	c.359T>C	c.(358-360)tTg>tCg	p.L120S	THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	120						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTGAAGACTTGGCTGGAAAA	0.333																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(358-360)tTg>tCg		THUMP domain containing 3							83	99	94					3																	9412772		2192	4295	6487	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9412772T>C	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.359T>C	3.37:g.9412772T>C	ENSP00000339532:p.Leu120Ser					THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|SETD5-AS1_ENST00000468186.1_RNA	p.L120S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	693	+	Medulloblastoma(99;0.227)		120					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.359T>C	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518636	0.85495	.	.	ENSG00000134077	ENST00000452837;ENST00000419437;ENST00000345094;ENST00000515662	T;T;T	0.56776	0.44;0.44;0.44	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.69823	2.125	0.58432	D	0.999998	P	0.49358	0.923	P	0.50754	0.649	T	0.68845	-0.5301	10	0.87932	D	0	-12.3195	16.0594	0.80830	0.0:0.0:0.0:1.0	.	120	Q9BV44	THUM3_HUMAN	S	120	ENSP00000395893:L120S;ENSP00000339532:L120S;ENSP00000424064:L120S	ENSP00000339532:L120S	L	+	2	0	THUMPD3	9387772	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.255000	0.78338	2.279000	0.76181	0.459000	0.35465	TTG		0.333	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		28	89	0	0	0	1	0	28	89					C	9412772	T	C	9412772	3	2	470	1	0	0	0	0	1	0	0	0	15881	1821	63	3	369	3	THUMPD3	3	9412772	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		9412772	188609658	9	38695											
OTOP1	133060	broad.mit.edu	37	chr4	4199680	4199680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatggctgtcaactttgCgcccgatgttcttccacagg	11	12	2	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:4199680C>T	ENST00000296358.4	-	5	905	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCAACTTTGCGCCCGATGTT	0.562																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(880-882)cGc>cAc		otopetrin 1							75	67	70					4																	4199680		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199680C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.881G>A	4.37:g.4199680C>T	ENSP00000296358:p.Arg294His						p.R294H	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	905	-			294					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.881G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471642	0.63737	.	.	ENSG00000163982	ENST00000296358	T	0.26067	1.76	4.56	4.56	0.56223	.	0.106321	0.64402	D	0.000005	T	0.47930	0.1472	M	0.83384	2.64	0.80722	D	1	D	0.63046	0.992	P	0.53518	0.728	T	0.59752	-0.7395	10	0.87932	D	0	.	17.7176	0.88342	0.0:1.0:0.0:0.0	.	294	Q7RTM1	OTOP1_HUMAN	H	294	ENSP00000296358:R294H	ENSP00000296358:R294H	R	-	2	0	OTOP1	4250581	1.000000	0.71417	0.952000	0.39060	0.268000	0.26511	7.308000	0.78929	2.270000	0.75569	0.404000	0.27445	CGC		0.562	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	49	0	0	0	1	0	6	49					T	4199680	C	T	4199680	3	4	470	1	0	0	0	0	1	0	0	0	11305	768	27	1	965	1	OTOP1	4	4199680	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		4199680	186954596	10	38696											
RASSF6	166824	broad.mit.edu	37	chr4	74442136	74442136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgacttactttgttactAttctttgaatctctcttttc	3	9	4	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:74442136A>G	ENST00000342081.3	-	10	1155	c.1025T>C	c.(1024-1026)aTa>aCa	p.I342T	RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000307439.5_Missense_Mutation_p.I310T	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	342	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTTTGTTACTATTCTTTGAAT	0.328																																						ENST00000307439.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17						c.(928-930)aTa>aCa		Ras association (RalGDS/AF-6) domain family member 6							109	112	111					4																	74442136		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74442136A>G	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.1025T>C	4.37:g.74442136A>G	ENSP00000340578:p.Ile342Thr					RASSF6_ENST00000342081.3_Missense_Mutation_p.I342T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T	p.I310T	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		10	1223	-	Breast(15;0.00102)		342					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.929T>C	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	A	2.081	-0.410727	0.04799	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.36157	1.72;1.69;1.27;1.73	6.07	0.294	0.15747	SARAH (1);	0.359748	0.34932	N	0.003577	T	0.15825	0.0381	N	0.05259	-0.085	0.23533	N	0.997477	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.14578	0.011;0.004;0.002	T	0.22800	-1.0206	10	0.23891	T	0.37	-3.4998	10.4321	0.44413	0.46:0.0:0.54:0.0	.	298;276;342	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	T	310;342;276;298	ENSP00000303877:I310T;ENSP00000340578:I342T;ENSP00000379123:I276T;ENSP00000335582:I298T	ENSP00000303877:I310T	I	-	2	0	RASSF6	74661000	0.900000	0.30661	0.106000	0.21319	0.675000	0.39556	1.419000	0.34793	0.063000	0.16370	-0.408000	0.06270	ATA		0.328	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		3	56	0	0	0	1	0	3	56					G	74442136	A	G	74442136	3	3	470	1	0	0	0	0	1	0	0	0	13090	449	16	3	92	3	RASSF6	4	74442136	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08	70242456	74442136	116712140	11	38697											
ZDHHC11	79844	broad.mit.edu	37	chr5	843744	843744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccgtgcggagcaccCcggggttcacgaggtactgg	18	11	1	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:843744C>A	ENST00000283441.8	-	4	982	c.599G>T	c.(598-600)gGg>gTg	p.G200V	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V|ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000511539.1_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	200						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)			GCGGAGCACCCCGGGGTTCAC	0.637																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(598-600)gGg>gTg		zinc finger, DHHC-type containing 11							85	66	72					5																	843744		2200	4290	6490	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:843744C>A	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.599G>T	5.37:g.843744C>A	ENSP00000283441:p.Gly200Val					ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V|ZDHHC11_ENST00000511539.1_5'UTR	p.G200V	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		4	982	-			200					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.599G>T	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	c	6.810	0.518445	0.13005	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.20881	2.04;2.04	3.98	-7.96	0.01144	.	456.195000	0.00567	U	0.000282	T	0.10294	0.0252	N	0.12443	0.215	0.09310	N	1	B	0.09022	0.002	B	0.26864	0.074	T	0.21075	-1.0256	10	0.52906	T	0.07	-2.4999	1.0124	0.01500	0.192:0.3298:0.2891:0.1891	.	200	Q9H8X9	ZDH11_HUMAN	V	200	ENSP00000397719:G200V;ENSP00000283441:G200V	ENSP00000283441:G200V	G	-	2	0	ZDHHC11	896744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.895000	0.00172	-2.683000	0.00407	-0.511000	0.04467	GGG		0.637	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		3	16	1	0	0.150653	1	0.150653	3	16					A	843744	C	A	843744	3	1	470	1	0	0	0	0	1	0	0	0	17598	623	22	4	675	4	ZDHHC11	5	843744	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		843744	180071516	12	38698											
SH3TC2	79628	broad.mit.edu	37	chr5	148407349	148407349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagggcaggacctcctcgTgccggcctaggctcaggagc	14	14	1	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:148407349T>C	ENST00000515425.1	-	11	2047	c.1946A>G	c.(1945-1947)cAc>cGc	p.H649R	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.H196R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	649					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCCTCGTGCCGGCCTAG	0.642																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(586-588)cAc>cGc		SH3 domain and tetratricopeptide repeats 2							35	41	39					5																	148407349		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407349T>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1946A>G	5.37:g.148407349T>C	ENSP00000423660:p.His649Arg					SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.H649R	p.H196R			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1475	-			649					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.587A>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	T	0.774	-0.764561	0.02996	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	6.03	2.28	0.28536	Tetratricopeptide-like helical (1);	0.490913	0.22937	N	0.053825	T	0.49795	0.1578	L	0.54323	1.7	0.09310	N	1	P;B;B;B	0.44006	0.824;0.138;0.222;0.138	B;B;B;B	0.34180	0.177;0.065;0.087;0.065	T	0.40572	-0.9556	10	0.29301	T	0.29	-7.9603	4.2716	0.10789	0.1153:0.0634:0.2405:0.5807	.	534;642;649;649	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	R	196;649;642;534	ENSP00000441427:H196R;ENSP00000423660:H649R;ENSP00000421860:H642R;ENSP00000377886:H534R	ENSP00000377886:H534R	H	-	2	0	SH3TC2	148387542	0.011000	0.17503	0.709000	0.30452	0.236000	0.25371	0.597000	0.24059	0.479000	0.27511	0.455000	0.32223	CAC		0.642	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		19	10	0	0	0	1	0	19	10					C	148407349	T	C	148407349	3	2	470	1	0	0	0	0	1	0	0	0	14262	1696	59	3	1948	3	SH3TC2	5	148407349	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	147563605	148407349	32507911	13	38699											
NUP153	9972	broad.mit.edu	37	chr6	17675524	17675524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctggtggcagtgtgcTgtgagagtgagtgagaacgt	18	4	0	4			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:17675524T>C	ENST00000262077.2	-	4	658	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	220					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)			GGCAGTGTGCTGTGAGAGTGA	0.418																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(658-660)cAg>cGg		nucleoporin 153kDa							160	163	162					6																	17675524		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675524T>C	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.659A>G	6.37:g.17675524T>C	ENSP00000262077:p.Gln220Arg					NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		4	658	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	220					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.659A>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497233	0.85069	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.32272	1.46;1.46	5.74	5.74	0.90152	Nucleoporin, Nup153-like (1);	0.000000	0.49916	D	0.000131	T	0.45196	0.1330	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.67145	0.99;0.996;0.984	P;D;P	0.67900	0.871;0.954;0.828	T	0.47368	-0.9123	10	0.66056	D	0.02	-5.3137	16.0502	0.80755	0.0:0.0:0.0:1.0	.	220;242;220	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	R	220;242;220	ENSP00000262077:Q220R;ENSP00000444029:Q220R	ENSP00000262077:Q220R	Q	-	2	0	NUP153	17783503	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.627000	0.67784	2.197000	0.70478	0.528000	0.53228	CAG		0.418	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			30	32	0	0	0	1	0	30	32					C	17675524	T	C	17675524	3	2	470	1	0	0	0	0	1	0	0	0	10755	1580	55	3	3844	3	NUP153	6	17675524	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		17675524	153439543	14	38700											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833185	27833185	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgccaaagccaagacccGctcttctcgtgccggtctcc	9	18	3	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:27833185G>C	ENST00000357320.2	+	1	152	c.53G>C	c.(52-54)cGc>cCc	p.R18P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	18						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCCAAGACCCGCTCTTCTCGT	0.632																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(52-54)cGc>cCc		histone cluster 1, H2al							77	87	84					6																	27833185		2203	4300	6503	SO:0001583	missense	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833185G>C	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.53G>C	6.37:g.27833185G>C	ENSP00000349873:p.Arg18Pro						p.R18P	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	152	+			18					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000357320.2	37	c.53G>C	CCDS4634.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794438	0.31777	.	.	ENSG00000198374	ENST00000357320	T	0.70749	-0.51	4.69	4.69	0.59074	.	0.000000	0.30869	U	0.008714	T	0.78355	0.4270	.	.	.	0.44323	D	0.9972	.	.	.	.	.	.	T	0.81883	-0.0728	7	0.87932	D	0	.	16.9879	0.86345	0.0:0.0:1.0:0.0	.	.	.	.	P	18	ENSP00000349873:R18P	ENSP00000349873:R18P	R	+	2	0	HIST1H2AL	27941164	1.000000	0.71417	0.199000	0.23439	0.134000	0.20937	7.358000	0.79466	2.332000	0.79248	0.655000	0.94253	CGC		0.632	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		54	57	0	0	0	1	0	54	57					C	27833185	G	C	27833185	3	2	470	1	0	0	0	0	1	0	0	0	7138	1087	38	4	55	4	HIST1H2AL	6	27833185	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	10157661	27833185	143281882	15	38701											
TNXB	7148	broad.mit.edu	37	chr6	32036883	32036883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggaggggtcggggccGtggtctcagtttccgtttct	17	10	2	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:32036883G>A	ENST00000375244.3	-	16	5819	c.5618C>T	c.(5617-5619)aCg>aTg	p.T1873M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M			P22105	TENX_HUMAN	tenascin XB	1955	Fibronectin type-III 11. {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						GGTCGGGGCCGTGGTCTCAGT	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5617-5619)aCg>aTg		tenascin XB							29	33	31					6																	32036883		1315	2555	3870	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036883G>A	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.5618C>T	6.37:g.32036883G>A	ENSP00000364393:p.Thr1873Met					TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M	p.T1873M			P22105	TENX_HUMAN			16	5819	-			1955			Fibronectin type-III 11.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5618C>T		.	.	.	.	.	.	.	.	.	.	G	10.89	1.479222	0.26511	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55930	0.65;0.49	4.78	-5.51	0.02568	.	3.421720	0.00864	N	0.001950	T	0.12944	0.0314	L	0.27053	0.805	0.09310	N	1	B	0.31599	0.33	B	0.23716	0.048	T	0.04400	-1.0954	10	0.44086	T	0.13	.	3.3021	0.06987	0.1081:0.0896:0.3539:0.4484	.	1873	P22105-3	.	M	1873	ENSP00000364393:T1873M;ENSP00000364396:T1873M	ENSP00000364393:T1873M	T	-	2	0	TNXB	32144861	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.950000	0.03889	-1.442000	0.01955	0.655000	0.94253	ACG		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	43	0	0	0	1	0	10	43					A	32036883	G	A	32036883	3	1	470	1	0	0	0	0	1	0	0	0	16343	1145	40	1	9211	1	TNXB	6	32036883	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	4203698	32036883	139078184	16	38702											
SGCE	8910	broad.mit.edu	37	chr7	94259039	94259039	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caaagaacataccaggttttGggtaaggtggaaattccccc	10	9	0	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:94259039G>C	ENST00000265735.7	-	2	334	c.224C>G	c.(223-225)cCa>cGa	p.P75R	SGCE_ENST00000415788.2_Missense_Mutation_p.P111R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R|SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	75					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCAGGTTTTGGGTAAGGTGG	0.333																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(331-333)cCa>cGa		sarcoglycan, epsilon							106	118	114					7																	94259039		2203	4299	6502	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94259039G>C	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.224C>G	7.37:g.94259039G>C	ENSP00000265735:p.Pro75Arg					SGCE_ENST00000265735.7_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R	p.P111R			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	419	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		75					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.332C>G	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319176	0.81469	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39	5.66	5.66	0.87406	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	L	0.61218	1.895	0.80722	D	1	D;P;P;D	0.89917	0.993;0.927;0.887;1.0	D;P;P;D	0.91635	0.938;0.575;0.595;0.999	D	0.96310	0.9228	10	0.15952	T	0.53	-25.6879	20.1124	0.97915	0.0:0.0:1.0:0.0	.	111;75;75;75	B7Z2R4;E9PF60;G5E9K6;O43556	.;.;.;SGCE_HUMAN	R	75;75;75;75;111	ENSP00000265735:P75R;ENSP00000398930:P75R;ENSP00000388734:P75R;ENSP00000397536:P75R;ENSP00000405313:P111R	ENSP00000265735:P75R	P	-	2	0	SGCE	94096975	1.000000	0.71417	0.970000	0.41538	0.960000	0.62799	9.476000	0.97823	2.834000	0.97654	0.655000	0.94253	CCA		0.333	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			4	152	0	0	0	1	0	4	152					C	94259039	G	C	94259039	3	2	470	1	0	0	0	0	1	0	0	0	14202	1348	47	4	1281	4	SGCE	7	94259039	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		94259039	64879624	17	38703											
SLC12A9	56996	broad.mit.edu	37	chr7	100463503	100463504	+	Frame_Shift_Ins	INS	-	-	C													cctccccgggctcctgggagINScccccgggccctcaatcccc					rs149306595		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:100463503_100463504insC	ENST00000354161.3	+	14	2146_2147	c.2021_2022insC	c.(2020-2025)agccccfs	p.SP674fs	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	674					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)					GCTCCTGGGAGCCCCCGGGCCC	0.678																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2020-2022)accfs		solute carrier family 12, member 9																																				SO:0001589	frameshift_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463503_100463504insC	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.2026dupC	7.37:g.100463508_100463508dupC	ENSP00000275730:p.Ser674fs						p.T674fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2146_2147	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		674					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.2021_2022insC	CCDS5707.1																																																																																				0.678	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		8	44						8	44	---	---	---	---	C	100463504	-	C	100463503	7	5	470	1	0	1	1	0	0	0	0	0	14390	971	34	0	2071	0	SLC12A9	7	100463503	Frame_Shift_Ins	INS	-	TCGA-TM-A84I-01A-11D-A36O-08	6204464	100463503	58675160	18	38704											
OR2A5	393046	broad.mit.edu	37	chr7	143748010	143748010	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttctgtgggccccaTgaaatcaaccacttcttctg	7	15	4	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:143748010T>A	ENST00000408906.2	+	1	550	c.516T>A	c.(514-516)caT>caA	p.H172Q		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	172						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)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGGCCCCATGAAATCAACC	0.542																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(514-516)caT>caA		olfactory receptor, family 2, subfamily A, member 5							186	190	188					7																	143748010		2050	4215	6265	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748010T>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"GPCR / Class A : Olfactory receptors"	8232	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 5"	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.516T>A	7.37:g.143748010T>A	ENSP00000386208:p.His172Gln						p.H172Q	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	550	+	Melanoma(164;0.0783)		172					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.516T>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	T	6.856	0.527259	0.13066	.	.	ENSG00000221836	ENST00000408906	T	0.00036	8.86	5.25	-3.54	0.04653	GPCR, rhodopsin-like superfamily (1);	0.669254	0.11655	N	0.542396	T	0.00039	0.0001	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.05321	-1.0892	10	0.19147	T	0.46	.	1.3933	0.02255	0.1206:0.2381:0.2461:0.3952	.	172	Q96R48	OR2A5_HUMAN	Q	172	ENSP00000386208:H172Q	ENSP00000386208:H172Q	H	+	3	2	OR2A5	143378943	0.000000	0.05858	0.977000	0.42913	0.930000	0.56654	-1.512000	0.02258	-0.386000	0.07821	0.455000	0.32223	CAT		0.542	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			43	182	0	0	0	1	0	43	182					A	143748010	T	A	143748010	3	1	470	1	0	0	0	0	1	0	0	0	10981	1461	51	5	518	5	OR2A5	7	143748010	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	43284507	143748010	15390653	19	38705											
ACCN3	9311	broad.mit.edu	37	chr7	150747946	150747946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggctcccccagccccagCcccagccctccctataccct	5	24	0	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:150747946C>A	ENST00000349064.5	+	4	1113	c.915C>A	c.(913-915)agC>agA	p.S305R	ASIC3_ENST00000297512.8_Missense_Mutation_p.S305R|ASIC3_ENST00000357922.4_Missense_Mutation_p.S305R	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	305					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)										ccagccccagccccagcccTC	0.637																																						ENST00000357922.4																			0											c.(913-915)agC>agA		acid-sensing (proton-gated) ion channel 3							16	19	18					7																	150747946		2199	4298	6497	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150747946C>A	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.915C>A	7.37:g.150747946C>A	ENSP00000344838:p.Ser305Arg					ASIC3_ENST00000349064.5_Missense_Mutation_p.S305R|ASIC3_ENST00000297512.8_Missense_Mutation_p.S305R	p.S305R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			4	1509	+			305					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.915C>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	C	6.151	0.396061	0.11638	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.65364	-0.15;-0.13;-0.14	5.06	2.2	0.27929	.	4.118970	0.01217	N	0.007988	T	0.40719	0.1128	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.12156	0.007;0.002;0.007	T	0.30119	-0.9989	10	0.15499	T	0.54	-2.0792	4.4092	0.11425	0.1787:0.6331:0.0:0.1882	.	305;305;305	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	R	305	ENSP00000350600:S305R;ENSP00000344838:S305R;ENSP00000297512:S305R	ENSP00000297512:S305R	S	+	3	2	ACCN3	150378879	0.078000	0.21339	0.070000	0.20053	0.141000	0.21300	0.082000	0.14847	0.615000	0.30124	0.650000	0.86243	AGC		0.637	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		5	11	1	0	0.014758	1	0.0156261	5	11					A	150747946	C	A	150747946	3	1	470	1	0	0	0	0	1	0	0	0	130	738	26	4	929	4	ACCN3	7	150747946	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	6999936	150747946	8390717	20	38706											
PRKDC	5591	broad.mit.edu	37	chr8	48697720	48697720	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aactccactttgaagtcgctCatccagggtgaacattcttt	7	11	2	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:48697720C>G	ENST00000314191.2	-	78	11114	c.11058G>C	c.(11056-11058)atG>atC	p.M3686I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3687					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)	TGAAGTCGCTCATCCAGGGTG	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(11056-11058)atG>atC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							104	98	100					8																	48697720		1835	4087	5922	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48697720C>G		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.11058G>C	8.37:g.48697720C>G	ENSP00000313420:p.Met3686Ile					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I	p.M3686I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			78	11114	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3687					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11058G>C		.	.	.	.	.	.	.	.	.	.	C	12.03	1.815252	0.32053	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.80393	-1.37;-1.37	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.330037	0.37053	N	0.002275	T	0.81133	0.4759	M	0.64997	1.995	0.52501	D	0.999957	B;B	0.14012	0.007;0.009	B;B	0.17098	0.005;0.017	T	0.76222	-0.3038	10	0.62326	D	0.03	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	3686;3687	E7EUY0;P78527	.;PRKDC_HUMAN	I	3686	ENSP00000313420:M3686I;ENSP00000345182:M3686I	ENSP00000313420:M3686I	M	-	3	0	PRKDC	48860273	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	2.918000	0.48829	2.735000	0.93741	0.655000	0.94253	ATG		0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	49	0	0	0	1	0	3	49					G	48697720	C	G	48697720	3	3	470	1	0	0	0	0	1	0	0	0	12521	826	29	4	1365	4	PRKDC	8	48697720	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		48697720	97666302	21	38707											
VPS13B	157680	broad.mit.edu	37	chr8	100533211	100533211	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctgacaatccccttggcaGatctgtccttaggaaagata	10	10	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:100533211G>A	ENST00000358544.2	+	30	4904	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1598					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)			CCCCTTGGCAGATCTGTCCTT	0.403																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				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						c.(4792-4794)aGa>aAa		vacuolar protein sorting 13 homolog B (yeast)							137	126	130					8																	100533211		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100533211G>A	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.4793G>A	8.37:g.100533211G>A	ENSP00000351346:p.Arg1598Lys					VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K|VPS13B_ENST00000395996.1_3'UTR	p.R1598K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		30	4904	+	Breast(36;3.73e-07)		1598					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4793G>A	CCDS6280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.966760|4.966760	0.92855|0.92855	.|.	.|.	ENSG00000132549|ENSG00000132549	ENST00000521559|ENST00000357162;ENST00000358544	.|D;D	.|0.91945	.|-2.94;-2.93	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96340|0.96340	0.8806|0.8806	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.994	.|D;D	.|0.76071	.|0.987;0.97	D|D	0.96468|0.96468	0.9346|0.9346	5|10	.|0.87932	.|D	.|0	.|.	19.7232|19.7232	0.96151|0.96151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1573;1598	.|Q7Z7G8-2;Q7Z7G8	.|.;VP13B_HUMAN	N|K	29|1573;1598	.|ENSP00000349685:R1573K;ENSP00000351346:R1598K	.|ENSP00000349685:R1573K	D|R	+|+	1|2	0|0	VPS13B|VPS13B	100602387|100602387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.913000|8.913000	0.92730|0.92730	2.634000|2.634000	0.89283|0.89283	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	56	0	0	0	1	0	9	56					A	100533211	G	A	100533211	3	1	470	1	0	0	0	0	1	0	0	0	17187	942	33	2	5101	2	VPS13B	8	100533211	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	51835491	100533211	45830811	22	38708											
TEK	7010	broad.mit.edu	37	chr9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacctcttgtatctgatgctGaaacatctctcacctgcatt	5	12	4	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					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)	ATCTGATGCTGAAACATCTCT	0.478																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(115-117)Gaa>Aaa		TEK tyrosine kinase, endothelial							201	170	180					9																	27157891		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157891G>A	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.115G>A	9.37:g.27157891G>A	ENSP00000369375:p.Glu39Lys					TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	p.E39K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	557	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	39					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.115G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906727	0.92107	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73258	-0.69;-0.73	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000073	T	0.77301	0.4110	N	0.24115	0.695	0.50171	D	0.999853	P;D;D;D	0.69078	0.624;0.997;0.997;0.997	B;D;D;D	0.80764	0.398;0.991;0.994;0.991	T	0.78365	-0.2232	10	0.56958	D	0.05	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	72;39;39;39	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	39	ENSP00000369375:E39K;ENSP00000383977:E39K	ENSP00000343716:E39K	E	+	1	0	TEK	27147891	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	6.664000	0.74437	2.798000	0.96311	0.655000	0.94253	GAA		0.478	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			19	83	0	0	0	1	0	19	83					A	27157891	G	A	27157891	3	1	470	1	0	0	0	0	1	0	0	0	15748	1291	45	2	121	2	TEK	9	27157891	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		27157891	114055540	23	38709											
AQP7	364	broad.mit.edu	37	chr9	33385821	33385821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttgttctcctggtccGtgatggcgaagagacacagc	14	10	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:33385821G>A	ENST00000537089.1	-	6	611	c.293C>T	c.(292-294)aCg>aTg	p.T98M	AQP7_ENST00000539936.1_Missense_Mutation_p.T190M|AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000377425.4_Missense_Mutation_p.T133M			O14520	AQP7_HUMAN	aquaporin 7	190					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTCCTGGTCCGTGATGGCGAA	0.612																																						ENST00000537089.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(292-294)aCg>aTg		aquaporin 7							120	105	110					9																	33385821		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385821G>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.293C>T	9.37:g.33385821G>A	ENSP00000441619:p.Thr98Met					AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000539936.1_Missense_Mutation_p.T190M|AQP7_ENST00000377425.4_Missense_Mutation_p.T133M	p.T98M			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	611	-			190					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37	c.293C>T		.	.	.	.	.	.	.	.	.	.	g	5.339	0.247849	0.10130	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.02	2.07	0.26955	Aquaporin-like (2);	0.651343	0.16794	N	0.199262	D	0.83751	0.5322	M	0.65320	2	0.09310	N	1	P;P;P;P	0.43542	0.705;0.783;0.81;0.484	B;B;B;B	0.42214	0.21;0.38;0.225;0.137	T	0.72027	-0.4414	10	0.33141	T	0.24	-1.1949	8.4263	0.32731	0.0852:0.4539:0.4609:0.0	.	189;190;133;190	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	M	98;189;58;190;133;98;189;190;126	ENSP00000441619:T98M;ENSP00000368821:T189M;ENSP00000412868:T58M;ENSP00000297988:T190M;ENSP00000396111:T133M;ENSP00000410138:T98M;ENSP00000368820:T189M;ENSP00000439534:T190M;ENSP00000368817:T126M	ENSP00000297988:T190M	T	-	2	0	AQP7	33375821	0.000000	0.05858	0.776000	0.31678	0.290000	0.27261	-0.276000	0.08514	0.257000	0.21650	-0.188000	0.12872	ACG		0.612	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		31	50	0	0	0	1	0	31	50					A	33385821	G	A	33385821	3	1	470	1	0	0	0	0	1	0	0	0	831	1145	40	1	467	1	AQP7	9	33385821	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	6227930	33385821	107827610	24	38710											
CD72	971	broad.mit.edu	37	chr9	35616134	35616134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgcttcctgactctgcGccagctctctcctggacccc	9	17	2	1	rs535216398		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:35616134G>A	ENST00000396757.1	-	6	658	c.494C>T	c.(493-495)gCg>gTg	p.A165V	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.A165V			P21854	CD72_HUMAN	CD72 molecule	165					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)			CTGACTCTGCGCCAGCTCTCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20154	0.0		0.0	False		,,,				2504	0.001					ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(493-495)gCg>gTg		CD72 molecule							116	111	112					9																	35616134		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35616134G>A		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.494C>T	9.37:g.35616134G>A	ENSP00000379980:p.Ala165Val					CD72_ENST00000259633.4_Missense_Mutation_p.A165V|CD72_ENST00000490239.1_5'UTR	p.A165V			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	658	-			165						Missense_Mutation	SNP	ENST00000396757.1	37	c.494C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751937	0.49362	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.54675	0.56;0.56	5.14	-0.371	0.12525	.	0.857289	0.10174	N	0.706693	T	0.36386	0.0965	L	0.40543	1.245	0.22446	N	0.999098	B;B	0.24258	0.1;0.1	B;B	0.16289	0.015;0.015	T	0.19289	-1.0310	10	0.28530	T	0.3	-0.3594	4.825	0.13412	0.1621:0.0:0.4135:0.4243	.	165;165	Q5TLG3;P21854	.;CD72_HUMAN	V	165	ENSP00000379980:A165V;ENSP00000259633:A165V	ENSP00000259633:A165V	A	-	2	0	CD72	35606134	0.804000	0.28969	0.103000	0.21229	0.534000	0.34807	0.372000	0.20467	-0.054000	0.13266	-1.478000	0.00992	GCG		0.607	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		19	58	0	0	0	1	0	19	58					A	35616134	G	A	35616134	3	1	470	1	0	0	0	0	1	0	0	0	3034	1087	38	1	601	1	CD72	9	35616134	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	2230313	35616134	105597297	25	38711											
GPR21	2844	broad.mit.edu	37	chr9	125797418	125797418	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcacaccgactcctacttCaccctgttcatcgtgatgat	7	14	2	2	rs202132540	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:125797418C>T	ENST00000373642.1	+	1	613	c.573C>T	c.(571-573)ttC>ttT	p.F191F	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	191					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACTCCTACTTCACCCTGTTCA	0.502													C|||	14	0.00279553	0.0	0.0	5008	,	,		22268	0.0		0.0	False		,,,				2504	0.0143					ENST00000373642.1																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						c.(571-573)ttC>ttT		G protein-coupled receptor 21							150	133	139					9																	125797418		2203	4300	6503	SO:0001819	synonymous_variant	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797418C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.573C>T	9.37:g.125797418C>T						RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	p.F191F	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN			1	613	+			191					B2R8W9|Q6NXU2	Silent	SNP	ENST00000373642.1	37	c.573C>T	CCDS6849.1																																																																																				0.502	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		43	67	0	0	0	1	0	43	67					T	125797418	C	T	125797418	2	4	470	1	0	0	0	0	0	0	0	1	6681	825	29	2		2	GPR21	9	125797418	Silent	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	90181284	125797418	15416013	26	38712											
PPP2R5B	5526	broad.mit.edu	37	chr11	64699330	64699330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgctgtgtttccagccCccatttccaggtatgaggca	11	13	0	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr11:64699330C>T	ENST00000164133.2	+	11	1728	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	369					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTTCCAGCCCCCATTTCCAG	0.557																																						ENST00000164133.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						c.(1105-1107)cCc>cTc		protein phosphatase 2, regulatory subunit B', beta							60	59	59					11																	64699330		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64699330C>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.1106C>T	11.37:g.64699330C>T	ENSP00000164133:p.Pro369Leu						p.P369L	NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN			11	1728	+			369					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.1106C>T	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573613	0.86542	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	3.98	3.98	0.46160	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76528	0.4000	M	0.79805	2.47	0.80722	D	1	D	0.58620	0.983	P	0.60682	0.878	T	0.79933	-0.1594	9	0.59425	D	0.04	-22.7017	14.3869	0.66949	0.0:1.0:0.0:0.0	.	369	Q15173	2A5B_HUMAN	L	369	.	ENSP00000164133:P369L	P	+	2	0	PPP2R5B	64455906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.239000	0.78182	2.511000	0.84671	0.455000	0.32223	CCC		0.557	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		7	31	0	0	0	1	0	7	31					T	64699330	C	T	64699330	3	4	470	1	0	0	0	0	1	0	0	0	12393	623	22	2	1144	2	PPP2R5B	11	64699330	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		64699330	70307186	27	38713											
SCNN1A	6337	broad.mit.edu	37	chr12	6457372	6457372	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagacaacaccgaggagccGaaccacaggctccactggct	10	15	0	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:6457372G>A	ENST00000228916.2	-	13	1775	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000358945.3_Silent_p.F581F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Silent_p.F582F	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					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)	CCGAGGAGCCGAACCACAGGC	0.567																																						ENST00000358945.3																			0				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						c.(1741-1743)ttC>ttT		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						66	64	65					12																	6457372		2203	4300	6503	SO:0001819	synonymous_variant	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457372G>A	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.1677C>T	12.37:g.6457372G>A						SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000543768.1_Silent_p.F582F	p.F581F			P37088	SCNNA_HUMAN			13	2183	-			559					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.1743C>T	CCDS8543.1																																																																																				0.567	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			30	63	0	0	0	1	0	30	63					A	6457372	G	A	6457372	2	1	470	1	0	0	0	0	0	0	0	1	13927	1049	37	1		1	SCNN1A	12	6457372	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		6457372	127394523	28	38714											
CD163L1	283316	broad.mit.edu	37	chr12	7522118	7522118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccctcagggcagccagagCagagccacagcccagctgct	12	16	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:7522118C>A	ENST00000313599.3	-	15	3931	c.3874G>T	c.(3874-3876)Gct>Tct	p.A1292S	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1292	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAGCCAGAGCAGAGCCACAG	0.592																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3874-3876)Gct>Tct		CD163 molecule-like 1							105	100	101					12																	7522118		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522118C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3874G>T	12.37:g.7522118C>A	ENSP00000315945:p.Ala1292Ser					CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S	p.A1292S			Q9NR16	C163B_HUMAN			15	3931	-			1292			SRCR 12.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3874G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513687	0.64522	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34275	1.37;1.37;1.37	2.67	1.72	0.24424	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.298961	0.23626	U	0.046182	T	0.63710	0.2534	M	0.92367	3.3	0.30294	N	0.790114	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64428	-0.6410	10	0.59425	D	0.04	.	9.302	0.37851	0.0:0.776:0.224:0.0	.	1302;1292	E7EVK4;Q9NR16	.;C163B_HUMAN	S	1292;1302;1292	ENSP00000315945:A1292S;ENSP00000393474:A1302S;ENSP00000379871:A1292S	ENSP00000315945:A1292S	A	-	1	0	CD163L1	7413385	0.997000	0.39634	0.004000	0.12327	0.118000	0.20060	3.729000	0.54999	0.615000	0.30124	0.563000	0.77884	GCT		0.592	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	128	1	0	0.0215528	1	0.0223817	6	128					A	7522118	C	A	7522118	3	1	470	1	0	0	0	0	1	0	0	0	2968	710	25	4	507	4	CD163L1	12	7522118	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	1064746	7522118	126329777	29	38715											
KRT83	3889	broad.mit.edu	37	chr12	52715004	52715004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcggtagcaggagatgCcgcggtagggggcggcggtg	23	9	0	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:52715004C>T	ENST00000293670.3	-	1	178	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	39	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGAGATGCCGCGGTAGGG	0.706																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(115-117)gGc>gAc		keratin 83							21	29	26					12																	52715004		2193	4281	6474	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52715004C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.116G>A	12.37:g.52715004C>T	ENSP00000293670:p.Gly39Asp						p.G39D	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	178	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		39			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.116G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357523	0.82243	.	.	ENSG00000170523	ENST00000293670	D	0.88664	-2.41	4.55	4.55	0.56014	.	0.000000	0.35466	U	0.003200	D	0.94909	0.8354	M	0.92604	3.325	0.41859	D	0.990215	D	0.67145	0.996	D	0.68039	0.955	D	0.95535	0.8607	10	0.87932	D	0	.	11.8286	0.52282	0.0:0.9066:0.0:0.0934	.	39	P78385	KRT83_HUMAN	D	39	ENSP00000293670:G39D	ENSP00000293670:G39D	G	-	2	0	KRT83	51001271	0.404000	0.25328	0.998000	0.56505	0.975000	0.68041	1.853000	0.39358	2.516000	0.84829	0.655000	0.94253	GGC		0.706	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		8	1005	0	0	0	1	0	8	1005					T	52715004	C	T	52715004	3	4	470	1	0	0	0	0	1	0	0	0	8497	739	26	2	1401	2	KRT83	12	52715004	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	45192886	52715004	81136891	30	38716											
LRP1	4035	broad.mit.edu	37	chr12	57552234	57552234	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcaagggccggccaggcatCatccggggcatggatatggg	18	10	1	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552234C>T	ENST00000243077.3	+	11	2077	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	537					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCAGGCATCATCCGGGGCA	0.592																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1609-1611)atC>atT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						93	75	81					12																	57552234		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57552234C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1611C>T	12.37:g.57552234C>T							p.I537I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	11	2077	+			537					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.1611C>T	CCDS8932.1																																																																																				0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	22	0	0	0	1	0	16	22					T	57552234	C	T	57552234	2	4	470	1	0	0	0	0	0	0	0	1	8951	816	29	2		2	LRP1	12	57552234	Silent	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	4837230	57552234	76299661	31	38717											
LRP1	4035	broad.mit.edu	37	chr12	57552342	57552342	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cacgctgagaccggcttcatCtactttgccgacaccaccag	8	16	2	1	rs568919727		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552342C>G	ENST00000243077.3	+	11	2185	c.1719C>G	c.(1717-1719)atC>atG	p.I573M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	573					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGGCTTCATCTACTTTGCCG	0.577																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1717-1719)atC>atG		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						95	78	84					12																	57552342		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57552342C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1719C>G	12.37:g.57552342C>G	ENSP00000243077:p.Ile573Met						p.I573M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	11	2185	+			573					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1719C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247936	0.39697	.	.	ENSG00000123384	ENST00000243077	T	0.55413	0.52	4.3	4.3	0.51218	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	T	0.49915	0.1585	M	0.76838	2.35	0.80722	D	1	P	0.41041	0.736	B	0.36289	0.221	T	0.57254	-0.7843	10	0.52906	T	0.07	.	9.8813	0.41236	0.2034:0.7966:0.0:0.0	.	573	Q07954	LRP1_HUMAN	M	573	ENSP00000243077:I573M	ENSP00000243077:I573M	I	+	3	3	LRP1	55838609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.404000	0.34623	2.687000	0.91594	0.561000	0.74099	ATC		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	16	0	0	0	1	0	17	16					G	57552342	C	G	57552342	3	3	470	1	0	0	0	0	1	0	0	0	8951	903	32	4	1761	4	LRP1	12	57552342	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	108	57552342	76299553	32	38718											
RIMBP2	23504	broad.mit.edu	37	chr12	130919378	130919378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcgtctgaggcggcGtactgccccgcgctgcttct	11	17	2	1	rs574899300		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:130919378G>A	ENST00000261655.4	-	11	2266	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	701					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGAGGCGGCGTACTGCCCCG	0.587													g|||	1	0.000199681	0.0	0.0014	5008	,	,		15164	0.0		0.0	False		,,,				2504	0.0					ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2101-2103)taC>taT		RIMS binding protein 2							62	68	66					12																	130919378		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919378G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2103C>T	12.37:g.130919378G>A						RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	p.Y701Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2266	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	701					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2103C>T	CCDS31925.1																																																																																				0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		19	20	0	0	0	1	0	19	20					A	130919378	G	A	130919378	2	1	470	1	0	0	0	0	0	0	0	1	13363	1140	40	1		1	RIMBP2	12	130919378	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	73367036	130919378	2932517	33	38719											
PRKCH	5583	broad.mit.edu	37	chr14	62014587	62014587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcgccaaatagaaccgCctttcagacccagaatcgta	6	14	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr14:62014587C>T	ENST00000332981.5	+	13	2273	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RP11-47I22.1_ENST00000556543.1_RNA|RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	630	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AATAGAACCGCCTTTCAGACC	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1888-1890)Cct>Tct		protein kinase C, eta							153	149	150					14																	62014587		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014587C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1888C>T	14.37:g.62014587C>T	ENSP00000329127:p.Pro630Ser					RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S	p.P630S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2273	+			630			AGC-kinase C-terminal.		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.1888C>T	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198964	0.94997	.	.	ENSG00000027075	ENST00000332981;ENST00000555082	T;T	0.58060	0.36;0.36	5.99	5.99	0.97316	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.283897	0.30602	N	0.009279	T	0.81442	0.4823	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85013	0.0907	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	630	P24723	KPCL_HUMAN	S	630;469	ENSP00000329127:P630S;ENSP00000450981:P469S	ENSP00000329127:P630S	P	+	1	0	PRKCH	61084340	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.719000	0.84751	2.840000	0.97914	0.655000	0.94253	CCT		0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		5	125	0	0	0	1	0	5	125					T	62014587	C	T	62014587	3	4	470	1	0	0	0	0	1	0	0	0	12513	739	26	2	1938	2	PRKCH	14	62014587	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		62014587	45334953	34	38720											
MKL2	57496	broad.mit.edu	37	chr16	14340397	14340397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccaaaccggacctcaTtgagcgcctaaaaccctacc	7	16	1	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:14340397T>C	ENST00000341243.5	+	10	1247	c.1247T>C	c.(1246-1248)aTt>aCt	p.I416T	MKL2_ENST00000574045.1_Missense_Mutation_p.I427T|MKL2_ENST00000571589.1_Missense_Mutation_p.I427T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	416	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				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						CCGGACCTCATTGAGCGCCTA	0.507																																						ENST00000571589.1																			0				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						c.(1279-1281)aTt>aCt		MKL/myocardin-like 2							76	68	71					16																	14340397		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340397T>C	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.1247T>C	16.37:g.14340397T>C	ENSP00000345841:p.Ile416Thr					MKL2_ENST00000574045.1_Missense_Mutation_p.I427T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T|MKL2_ENST00000341243.5_Missense_Mutation_p.I416T	p.I427T	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1452	+			416					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1280T>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.471621	0.84533	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	H	0.95402	3.665	0.58432	D	0.999995	D;D	0.89917	1.0;0.996	D;D	0.77557	0.99;0.99	D	0.89354	0.3663	9	0.45353	T	0.12	-27.2627	15.4961	0.75653	0.0:0.0:0.0:1.0	.	427;427	B4DGT8;Q9ULH7-4	.;.	T	427;416	.	ENSP00000339086:I427T	I	+	2	0	MKL2	14247898	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.991000	0.88244	2.250000	0.74265	0.533000	0.62120	ATT		0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		8	42	0	0	0	1	0	8	42					C	14340397	T	C	14340397	3	2	470	1	0	0	0	0	1	0	0	0	9602	1493	52	3	1318	3	MKL2	16	14340397	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		14340397	76014356	35	38721											
ALOX15	246	broad.mit.edu	37	chr17	4540428	4540428	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctggatgaccatgggcaaGagtttcccatcaggctgcaa	11	11	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:4540428G>A	ENST00000570836.1	-	8	1029	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000545513.1_Silent_p.L333L|ALOX15_ENST00000293761.3_Silent_p.L311L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	311	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCATGGGCAAGAGTTTCCCAT	0.522																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(931-933)ctC>ctT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						84	83	83					17																	4540428		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4540428G>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.933C>T	17.37:g.4540428G>A						ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000293761.3_Silent_p.L311L|ALOX15_ENST00000545513.1_Silent_p.L333L	p.L311L			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	8	1029	-			311			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.933C>T	CCDS11049.1																																																																																				0.522	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			8	55	0	0	0	1	0	8	55					A	4540428	G	A	4540428	2	1	470	1	0	0	0	0	0	0	0	1	538	929	33	2		2	ALOX15	17	4540428	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		4540428	76654782	36	38722											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	13	0	0	0	1	0	18	13					C	7578190	T	C	7578190	3	2	470	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	3037762	7578190	73617020	37	38723											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	35	0	0	0	1	0	31	35					T	7578406	C	T	7578406	3	4	470	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	216	7578406	73616804	38	38724											
GALNT1	2589	broad.mit.edu	37	chr18	33243711	33243711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaatcagttcaatttaAtggcaagtgagatgattgca	8	5	3	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr18:33243711A>G	ENST00000269195.5	+	2	362	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V|GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	87					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTTCAATTTAATGGCAAGTGA	0.378																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(259-261)Atg>Gtg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							137	130	132					18																	33243711		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33243711A>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.259A>G	18.37:g.33243711A>G	ENSP00000269195:p.Met87Val					GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V|GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V	p.M87V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			2	362	+			87					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.259A>G	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.302358	0.23736	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.51325	0.76;0.71	5.42	5.42	0.78866	.	0.037727	0.85682	N	0.000000	T	0.28995	0.0720	N	0.13371	0.34	0.58432	D	0.999999	B	0.17268	0.021	B	0.14578	0.011	T	0.12243	-1.0555	10	0.10111	T	0.7	.	13.397	0.60858	1.0:0.0:0.0:0.0	.	87	Q10472	GALT1_HUMAN	V	87;87;27	ENSP00000269195:M87V;ENSP00000440910:M27V	ENSP00000269195:M87V	M	+	1	0	GALNT1	31497709	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.306000	0.78905	2.059000	0.61396	0.533000	0.62120	ATG		0.378	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		13	47	0	0	0	1	0	13	47					G	33243711	A	G	33243711	3	3	470	1	0	0	0	0	1	0	0	0	6207	101	4	3	265	3	GALNT1	18	33243711	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08		33243711	44833537	39	38725											
AP1M2	10053	broad.mit.edu	37	chr19	10685148	10685148	+	Frame_Shift_Del	DEL	A	A	-													gcctggtaaccacttttctcAatgatcttcatgtatcggac							TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:10685148delA	ENST00000250244.6	-	11	1276	c.1194delT	c.(1192-1194)attfs	p.I398fs	AP1M2_ENST00000590923.1_Frame_Shift_Del_p.I400fs	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	398	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|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)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CACTTTTCTCAATGATCTTCA	0.582																																						ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(1198-1200)atfs		adaptor-related protein complex 1, mu 2 subunit							44	43	43					19																	10685148		2055	4228	6283	SO:0001589	frameshift_variant	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10685148delA	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.1194delT	19.37:g.10685148delA	ENSP00000250244:p.Ile398fs					AP1M2_ENST00000250244.6_Frame_Shift_Del_p.I398fs	p.I400fs			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		11	1283	-			398			MHD.		B2RDV5|Q9BSI8	Frame_Shift_Del	DEL	ENST00000250244.6	37	c.1200delT	CCDS45964.1																																																																																				0.582	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			2	4						2	4	---	---	---	---	-	10685148	A	-	10685148	7	5	470	1	0	1	0	1	0	0	0	0	735	126	5	0	85	0	AP1M2	19	10685148	Frame_Shift_Del	DEL	A	TCGA-TM-A84I-01A-11D-A36O-08		10685148	48443835	40	38726											
CYP2A13	1553	broad.mit.edu	37	chr19	41601812	41601812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggctttgccacgatccCacgaaactacaccatgagct	9	14	0	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:41601812C>A	ENST00000330436.3	+	9	1451	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	484					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)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCCACGATCCCACGAAACTAC	0.632																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1450-1452)cCa>cAa		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						141	126	131					19																	41601812		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601812C>A	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.1451C>A	19.37:g.41601812C>A	ENSP00000332679:p.Pro484Gln						p.P484Q	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1451	+			484					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.1451C>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185815	0.57909	.	.	ENSG00000197838	ENST00000330436	T	0.70631	-0.5	3.97	2.89	0.33648	.	0.064020	0.64402	U	0.000006	D	0.86990	0.6066	H	0.95679	3.705	0.26944	N	0.96619	D	0.71674	0.998	D	0.76071	0.987	T	0.80274	-0.1451	10	0.87932	D	0	.	11.0371	0.47808	0.0:0.903:0.0:0.097	.	484	Q16696	CP2AD_HUMAN	Q	484	ENSP00000332679:P484Q	ENSP00000332679:P484Q	P	+	2	0	CYP2A13	46293652	0.385000	0.25172	0.051000	0.19133	0.513000	0.34164	3.737000	0.55060	0.866000	0.35629	0.473000	0.43528	CCA		0.632	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		18	74	1	0	4.35082e-09	1	5.10748e-09	18	74					A	41601812	C	A	41601812	3	1	470	1	0	0	0	0	1	0	0	0	4161	594	21	4	1485	4	CYP2A13	19	41601812	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	30916664	41601812	17527171	41	38727											
WFDC8	90199	broad.mit.edu	37	chr20	44184381	44184381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcatcctcatttaagAagttgttggcattcccttcg	9	10	1	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr20:44184381A>T	ENST00000357199.4	-	4	482	c.404T>A	c.(403-405)tTc>tAc	p.F135Y	WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	135	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTCATTTAAGAAGTTGTTGGC	0.443																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(403-405)tTc>tAc		WAP four-disulfide core domain 8							136	120	126					20																	44184381		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44184381A>T	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.404T>A	20.37:g.44184381A>T	ENSP00000361735:p.Phe135Tyr					WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN			4	482	-		Myeloproliferative disorder(115;0.0122)	135			BPTI/Kunitz inhibitor.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.404T>A	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.203520	0.38905	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.77229	-1.08;-1.08	4.26	4.26	0.50523	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.000000	0.56097	D	0.000021	D	0.85779	0.5776	M	0.76727	2.345	0.43814	D	0.996371	D	0.89917	1.0	D	0.91635	0.999	D	0.86575	0.1850	10	0.66056	D	0.02	.	10.0544	0.42237	1.0:0.0:0.0:0.0	.	135	Q8IUA0	WFDC8_HUMAN	Y	135	ENSP00000361735:F135Y;ENSP00000289953:F135Y	ENSP00000289953:F135Y	F	-	2	0	WFDC8	43617795	1.000000	0.71417	0.988000	0.46212	0.011000	0.07611	3.782000	0.55401	2.141000	0.66446	0.533000	0.62120	TTC		0.443	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			4	70	0	0	0	1	0	4	70					T	44184381	A	T	44184381	3	4	470	1	0	0	0	0	1	0	0	0	17353	246	9	5	333	5	WFDC8	20	44184381	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08		44184381	18841139	42	38728											
SEC14L4	284904	broad.mit.edu	37	chr22	30890140	30890140	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccggtcatgggcttacctcGaataacaattaaattcttca	6	11	3	0	rs141785416		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:30890140G>A	ENST00000255858.7	-	7	660	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000392772.2_Nonsense_Mutation_p.R139*|SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|RP4-539M6.14_ENST00000442126.1_RNA|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	193	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R193*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGCTTACCTCGAATAACAATT	0.483																																						ENST00000392772.2																			1	Substitution - Nonsense(1)	p.R193*(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(415-417)Cga>Tga		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)	G	stop/ARG,stop/ARG	0,4406		0,0,2203	92	93	93		577,577	2.8	0.9	22	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	SEC14L4	NM_001161368.1,NM_174977.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	193/361,193/407	30890140	1,13005	2203	4300	6503	SO:0001587	stop_gained	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890140G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.577C>T	22.37:g.30890140G>A	ENSP00000255858:p.Arg193*					SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000255858.7_Nonsense_Mutation_p.R193*	p.R139*			Q9UDX3	S14L4_HUMAN			7	692	-			193			CRAL-TRIO.		A5D6W7|A6NCV4	Nonsense_Mutation	SNP	ENST00000255858.7	37	c.415C>T	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.657062	0.67586	0.0	1.16E-4	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	.	.	.	5.22	2.83	0.33086	.	0.064020	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.717	0.46019	0.0:0.0:0.493:0.507	.	.	.	.	X	193;178;139;193	.	ENSP00000255858:R193X	R	-	1	2	SEC14L4	29220140	0.999000	0.42202	0.877000	0.34402	0.391000	0.30476	3.269000	0.51592	1.320000	0.45209	0.591000	0.81541	CGA		0.483	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		3	48	0	0	0	1	0	3	48					A	30890140	G	A	30890140	4	1	470	1	0	0	0	0	0	1	0	0	13984	1066	37	1	673	1	SEC14L4	22	30890140	Nonsense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		30890140	20414426	43	38729											
ANKRD54	129138	broad.mit.edu	37	chr22	38227984	38227984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgcatctgcagactgAgggaggtgaagctggccagg	16	9	2	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:38227984A>G	ENST00000215941.4	-	8	1061	c.869T>C	c.(868-870)cTc>cCc	p.L290P	ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P|ANKRD54_ENST00000609454.1_Missense_Mutation_p.L97P|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	290	Nuclear export signal (NES). {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					CTGCAGACTGAGGGAGGTGAA	0.602																																						ENST00000215941.4																			0				lung(1)	1						c.(868-870)cTc>cCc		ankyrin repeat domain 54							80	60	67					22																	38227984		2203	4300	6503	SO:0001583	missense	129138							g.chr22:38227984A>G	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"Ankyrin repeat domain containing"	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.869T>C	22.37:g.38227984A>G	ENSP00000215941:p.Leu290Pro					ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P	p.L290P	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			8	1061	-	Melanoma(58;0.045)		290					Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	ENST00000215941.4	37	c.869T>C	CCDS13959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.8|25.8	4.679176|4.679176	0.88542|0.88542	.|.	.|.	ENSG00000100124|ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961|ENST00000458278	T;T;T|.	0.80033|.	-1.33;-0.85;-1.33|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56731|0.56731	0.2005|0.2005	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.81914|.	0.921;0.995|.	T|T	0.52704|0.52704	-0.8540|-0.8540	10|5	0.87932|.	D|.	0|.	-8.9943|-8.9943	16.4504|16.4504	0.83984|0.83984	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	170;290|.	B5MCX7;Q6NXT1|.	.;ANR54_HUMAN|.	P|P	290;170;274|206	ENSP00000215941:L290P;ENSP00000384392:L170P;ENSP00000405782:L274P|.	ENSP00000215941:L290P|.	L|S	-|-	2|1	0|0	ANKRD54|ANKRD54	36557930|36557930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.797000|7.797000	0.85911|0.85911	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.602	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797		3	11	0	0	0	1	0	3	11					G	38227984	A	G	38227984	3	3	470	1	0	0	0	0	1	0	0	0	680	304	11	3	37	3	ANKRD54	22	38227984	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08	7337844	38227984	13076582	44	38730											
ATRX	546	broad.mit.edu	37	chrX	76920170	76920173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													ttcttcattttgttttccagTtctttttttcccttcttctg							TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:76920170_76920173delTTCT	ENST00000373344.5	-	11	4118_4121	c.3904_3907delAGAA	c.(3904-3909)agaactfs	p.RT1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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						TGTTTTCCAGTTCTTTTTTTCCCT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(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						c.(3904-3909)ctfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920170_76920173delTTCT	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.3904_3907delAGAA	X.37:g.76920170_76920173delTTCT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs	p.RT1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118_4121	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3904_3907delAGAA	CCDS14434.1																																																																																				0.377	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		69	3						69	3	---	---	---	---	-	76920173	TTCT	-	76920170	7	5	470	1	0	1	0	1	0	0	0	0	1208	1725	60	0	3671	0	ATRX	23	76920170	Frame_Shift_Del	DEL	TTCT	TCGA-TM-A84I-01A-11D-A36O-08		76920170	78350390	45	38731											
SATL1	340562	broad.mit.edu	37	chrX	84362924	84362924	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gcttggggctcgttgcggtgGacctggttggcttatgcttg	17	8	0	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:84362924G>C	ENST00000395409.3	-	1	1050	c.490C>G	c.(490-492)Cca>Gca	p.P164A	SATL1_ENST00000509231.1_Missense_Mutation_p.P351A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	164	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CGTTGCGGTGGACCTGGTTGG	0.542													G|||	1	0.000264901	0.0	0.0	3775	,	,		13438	0.0		0.0	False		,,,				2504	0.001					ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1051-1053)Cca>Gca		spermidine/spermine N1-acetyl transferase-like 1							215	137	163					X																	84362924		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362924G>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.490C>G	X.37:g.84362924G>C	ENSP00000378804:p.Pro164Ala					SATL1_ENST00000395409.3_Missense_Mutation_p.P164A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A	p.P351A			Q86VE3	SATL1_HUMAN			1	1130	-			164			N-acetyltransferase.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1051C>G		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111656	0.00353	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40225	1.04;1.04;1.04	2.0	-4.0	0.04057	.	.	.	.	.	T	0.19208	0.0461	N	0.20986	0.625	0.09310	N	1	B;P	0.35481	0.053;0.504	B;B	0.36335	0.019;0.222	T	0.24154	-1.0168	9	0.08381	T	0.77	-0.4123	2.2381	0.04013	0.1643:0.1425:0.489:0.2042	.	164;351	Q86VE3;E9PB72	SATL1_HUMAN;.	A	164;164;351	ENSP00000378804:P164A;ENSP00000329115:P164A;ENSP00000425421:P351A	ENSP00000329115:P164A	P	-	1	0	SATL1	84249580	0.020000	0.18652	0.000000	0.03702	0.009000	0.06853	-0.229000	0.09098	-1.219000	0.02597	0.190000	0.17370	CCA		0.542	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		21	0	0	0	0	1	0	21	0					C	84362924	G	C	84362924	3	2	470	1	0	0	0	0	1	0	0	0	13855	1174	41	4	867	4	SATL1	23	84362924	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	7442754	84362924	70907636	46	38732											
NXF3	56000	broad.mit.edu	37	chrX	102339304	102339304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccctaaggtcccatccGgcatgttcccctccattctt	6	17	1	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:102339304G>A	ENST00000395065.3	-	3	418	c.317C>T	c.(316-318)cCg>cTg	p.P106L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P17L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	106					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTCCCATCCGGCATGTTCCC	0.473																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(316-318)cCg>cTg		nuclear RNA export factor 3							215	170	185					X																	102339304		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339304G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.317C>T	X.37:g.102339304G>A	ENSP00000378504:p.Pro106Leu					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P17L	p.P106L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			3	418	-			106					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.317C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	9.528	1.110122	0.20714	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.37915	1.17;1.17	3.69	-1.36	0.09085	Nuclear RNA export factor Tap, RNA-binding domain (1);	0.516866	0.19798	N	0.105806	T	0.15825	0.0381	N	0.22421	0.69	0.09310	N	1	P;B	0.50819	0.939;0.005	B;B	0.36922	0.236;0.005	T	0.22243	-1.0222	10	0.44086	T	0.13	-5.8615	4.0272	0.09693	0.0:0.3727:0.2139:0.4134	.	106;106	B4DYI1;Q9H4D5	.;NXF3_HUMAN	L	106;17	ENSP00000378504:P106L;ENSP00000404347:P17L	ENSP00000378504:P106L	P	-	2	0	NXF3	102225960	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.388000	0.07352	-0.394000	0.07727	-1.147000	0.01851	CCG		0.473	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		23	38	0	0	0	1	0	23	38					A	102339304	G	A	102339304	3	1	470	1	0	0	0	0	1	0	0	0	10785	1116	39	1	1346	1	NXF3	23	102339304	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	17976380	102339304	52931256	47	38733											
IPP	3652	broad.mit.edu	37	chr1	46179946	46179946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatatttttctacagtaTgaagagcatcttgggtctca	9	6	3	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:46179946T>C	ENST00000396478.3	-	8	1604	c.1502A>G	c.(1501-1503)cAt>cGt	p.H501R	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	501						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)					TTCTACAGTATGAAGAGCATC	0.408																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1501-1503)cAt>cGt		intracisternal A particle-promoted polypeptide							110	100	103					1																	46179946		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46179946T>C	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.1502A>G	1.37:g.46179946T>C	ENSP00000379739:p.His501Arg						p.H501R	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			8	1604	-	Acute lymphoblastic leukemia(166;0.155)		501					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.1502A>G	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	T	5.463	0.270478	0.10349	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.76709	-1.04;-1.04	4.85	2.56	0.30785	Galactose oxidase, beta-propeller (1);	0.799771	0.11912	N	0.517556	T	0.43678	0.1258	N	0.00599	-1.345	0.29785	N	0.833707	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.42682	-0.9437	10	0.40728	T	0.16	.	5.3275	0.15915	0.0:0.1785:0.2043:0.6172	.	501;501	Q9Y573;A2A6V3	IPP_HUMAN;.	R	501	ENSP00000353024:H501R;ENSP00000379739:H501R	ENSP00000353024:H501R	H	-	2	0	IPP	45952534	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.160000	0.42348	0.710000	0.31997	0.454000	0.30748	CAT		0.408	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		32	35	0	0	0	1	0	32	35					C	46179946	T	C	46179946	3	2	471	1	0	0	0	0	1	0	0	0	7800	1464	51	3	362	3	IPP	1	46179946	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		46179946	203070675	1	38734											
CYP4A22	284541	broad.mit.edu	37	chr1	47608994	47608994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctggaggtctttcagcaCgtctccttgatgaccctgga	10	13	4	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:47608994C>T	ENST00000371891.3	+	5	595	c.564C>T	c.(562-564)caC>caT	p.H188H	CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000294337.3_Silent_p.H188H|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	188						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTCAGCACGTCTCCTTGA	0.567																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(562-564)caC>caT		cytochrome P450, family 4, subfamily A, polypeptide 22							88	78	81					1																	47608994		2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47608994C>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.564C>T	1.37:g.47608994C>T						CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000294337.3_Silent_p.H188H	p.H188H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			5	595	+			188					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.564C>T	CCDS30707.1																																																																																				0.567	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		9	38	0	0	0	1	0	9	38					T	47608994	C	T	47608994	2	4	471	1	0	0	0	0	0	0	0	1	4184	535	19	1		1	CYP4A22	1	47608994	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	1429048	47608994	201641627	2	38735											
LPHN2	23266	broad.mit.edu	37	chr1	82421687	82421687	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattggaagaaggagcttttGtcctagctgacaatctttta	9	7	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:82421687G>T	ENST00000370728.1	+	13	2593	c.1948G>T	c.(1948-1950)Gtc>Ttc	p.V650F	LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F|LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F			O95490	LPHN2_HUMAN	latrophilin 2	650					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)		AGGAGCTTTTGTCCTAGCTGA	0.368																																						ENST00000370728.1																			0				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						c.(1948-1950)Gtc>Ttc		latrophilin 2							109	101	104					1																	82421687		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82421687G>T	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.1948G>T	1.37:g.82421687G>T	ENSP00000359763:p.Val650Phe					LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F	p.V650F			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	13	2593	+			650					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1948G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.619543|4.619543	0.87460|0.87460	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10960	.|2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24198|0.24198	0.0586|0.0586	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.948;0.999;0.991	.|P;D;P	.|0.69307	.|0.747;0.963;0.804	T|T	0.00891|0.00891	-1.1525|-1.1525	5|10	.|0.72032	.|D	.|0.01	.|.	19.3323|19.3323	0.94295|0.94295	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|637;637;637	.|O95490-3;O95490-4;O95490-2	.|.;.;.	F|F	517|575;650;650;650;650;637;637;637;637;637;650;637;650;650	.|ENSP00000359756:V575F;ENSP00000359763:V650F;ENSP00000359765:V650F;ENSP00000359762:V650F;ENSP00000359760:V650F;ENSP00000359758:V637F;ENSP00000353006:V637F;ENSP00000359750:V637F;ENSP00000359748:V637F;ENSP00000322270:V637F;ENSP00000359752:V650F;ENSP00000378344:V637F;ENSP00000271029:V650F;ENSP00000337306:V650F	.|ENSP00000271029:V650F	L|V	+|+	3|1	2|0	LPHN2|LPHN2	82194275|82194275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.476000|9.476000	0.97823|0.97823	2.568000|2.568000	0.86640|0.86640	0.467000|0.467000	0.42956|0.42956	TTG|GTC		0.368	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		27	34	1	0	1.16021e-09	1	1.20724e-09	27	34					T	82421687	G	T	82421687	3	4	471	1	0	0	0	0	1	0	0	0	8916	1377	48	4	1939	4	LPHN2	1	82421687	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	34812693	82421687	166828934	3	38736											
DENND2C	163259	broad.mit.edu	37	chr1	115130509	115130509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcatgttcaaagaataAtgtcctaccaactccacaaa	4	11	2	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:115130509A>G	ENST00000393274.1	-	19	3121	c.2496T>C	c.(2494-2496)caT>caC	p.H832H	DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	832	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				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)		TCAAAGAATAATGTCCTACCA	0.453																																						ENST00000393274.1																			0				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						c.(2494-2496)caT>caC		DENN/MADD domain containing 2C							81	73	75					1																	115130509		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115130509A>G		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.2496T>C	1.37:g.115130509A>G						DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000481894.1_5'UTR	p.H832H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		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)	19	3121	-	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)	832			dDENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.2496T>C	CCDS58018.1																																																																																				0.453	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		9	42	0	0	0	1	0	9	42					G	115130509	A	G	115130509	2	3	471	1	0	0	0	0	0	0	0	1	4430	98	4	3		3	DENND2C	1	115130509	Silent	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	32708822	115130509	134120112	4	38737											
BCL9	607	broad.mit.edu	37	chr1	147091685	147091685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataaactctgaaatggaagGgccgaatgtccccaaccctg	10	11	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:147091685G>A	ENST00000234739.3	+	8	2464	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	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)		p.G575V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAATGGAAGGGCCGAATGTC	0.557			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		1	Substitution - Missense(1)	p.G575V(1)	lung(1)	breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1723-1725)gGg>gAg		B-cell CLL/lymphoma 9							81	88	85					1																	147091685		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091685G>A	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.1724G>A	1.37:g.147091685G>A	ENSP00000234739:p.Gly575Glu						p.G575E	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2464	+	all_hematologic(923;0.115)		575			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1724G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295898	0.60086	.	.	ENSG00000116128	ENST00000234739	T	0.50277	0.75	5.41	4.48	0.54585	.	0.047714	0.85682	D	0.000000	T	0.51618	0.1685	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.63597	0.861;0.916	T	0.55903	-0.8067	10	0.51188	T	0.08	-5.1965	16.2793	0.82664	0.0:0.1326:0.8674:0.0	.	575;575	Q1JQ81;O00512	.;BCL9_HUMAN	E	575	ENSP00000234739:G575E	ENSP00000234739:G575E	G	+	2	0	BCL9	145558309	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.789000	0.85783	1.489000	0.48450	0.561000	0.74099	GGG		0.557	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	108	0	0	0	1	0	4	108					A	147091685	G	A	147091685	3	1	471	1	0	0	0	0	1	0	0	0	1381	1232	43	2	1742	2	BCL9	1	147091685	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	31961176	147091685	102158936	5	38738											
DCST2	127579	broad.mit.edu	37	chr1	155004069	155004069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctggcaagtccacagagCgccagtttgaagggcatgag	15	10	0	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:155004069C>T	ENST00000368424.3	-	4	778	c.720G>A	c.(718-720)gcG>gcA	p.A240A	DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Silent_p.A240A|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000295542.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	240						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCACAGAGCGCCAGTTTGA	0.592																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(718-720)gcG>gcA		DC-STAMP domain containing 2							111	91	98					1																	155004069		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155004069C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.720G>A	1.37:g.155004069C>T						DCST2_ENST00000295536.5_Silent_p.A240A	p.A240A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	778	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		240					Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.720G>A	CCDS1082.2																																																																																				0.592	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		11	51	0	0	0	1	0	11	51					T	155004069	C	T	155004069	2	4	471	1	0	0	0	0	0	0	0	1	4303	755	27	1		1	DCST2	1	155004069	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	7912384	155004069	94246552	6	38739											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaatgacatcttcgagcGcatcgccagcgaggcctccc	10	16	2	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622																																						ENST00000369160.2																			1	Substitution - Missense(1)	p.R73L(1)	lung(1)	skin(1)	1						c.(217-219)cGc>cAc		histone cluster 3, H2bb							86	81	83					1																	228646048		2203	4300	6503	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646048G>A	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.218G>A	1.37:g.228646048G>A	ENSP00000375736:p.Arg73His						p.R73H	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	241	+		Prostate(94;0.183)	73					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.218G>A	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.544449	0.65198	.	.	ENSG00000196890	ENST00000369160	T	0.69561	-0.41	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.141869	0.32134	N	0.006534	T	0.67524	0.2902	M	0.79258	2.445	0.50632	D	0.999887	B	0.17038	0.02	B	0.19391	0.025	T	0.69202	-0.5207	10	0.49607	T	0.09	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	73	Q8N257	H2B3B_HUMAN	H	73	ENSP00000375736:R73H	ENSP00000375736:R73H	R	+	2	0	HIST3H2BB	226712671	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.967000	0.93402	2.491000	0.84063	0.586000	0.80456	CGC		0.622	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		4	133	0	0	0	1	0	4	133					A	228646048	G	A	228646048	3	1	471	1	0	0	0	0	1	0	0	0	7183	1087	38	1	220	1	HIST3H2BB	1	228646048	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	73641979	228646048	20604573	7	38740											
ZNF124	7678	broad.mit.edu	37	chr1	247323000	247323000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcttacctatggaagccAgattcctgaaggtttcctgc	9	10	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:247323000A>G	ENST00000543802.2	-	2	235	c.146T>C	c.(145-147)cTg>cCg	p.L49P	ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000472531.1_Missense_Mutation_p.L49P|ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR			Q15973	ZN124_HUMAN	zinc finger protein 124	49	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)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TATGGAAGCCAGATTCCTGAA	0.413																																						ENST00000472531.1																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14						c.(145-147)cTg>cCg		zinc finger protein 124							115	113	113					1																	247323000		2203	4300	6503	SO:0001583	missense	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247323000A>G	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"Zinc fingers, C2H2-type", "-"	12907	protein-coding gene	gene with protein product		194631	"zinc finger protein 124 (HZF-16)"			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.146T>C	1.37:g.247323000A>G	ENSP00000440365:p.Leu49Pro					ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P|ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000543802.2_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR	p.L49P	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		2	273	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		49			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37	c.146T>C		.	.	.	.	.	.	.	.	.	.	A	8.626	0.892451	0.17613	.	.	ENSG00000196418	ENST00000340684	T	0.03920	3.76	0.646	0.646	0.17789	Krueppel-associated box (4);	.	.	.	.	T	0.17746	0.0426	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.91635	0.999;0.955	T	0.01702	-1.1292	7	0.87932	D	0	.	.	.	.	.	49;49	Q15973;Q15973-4	ZN124_HUMAN;.	P	49	ENSP00000340749:L49P	ENSP00000340749:L49P	L	-	2	0	ZNF124	245389623	0.003000	0.15002	0.921000	0.36526	0.793000	0.44817	2.493000	0.45320	0.516000	0.28340	0.383000	0.25322	CTG		0.413	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431		17	61	0	0	0	1	0	17	61					G	247323000	A	G	247323000	3	3	471	1	0	0	0	0	1	0	0	0	17717	188	7	3	735	3	ZNF124	1	247323000	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	18676952	247323000	1927621	8	38741											
OR2T27	403239	broad.mit.edu	37	chr1	248813322	248813322	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgttcctaaggctgtaaatGagtggattgagcatgggagt	14	4	0	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:248813322G>C	ENST00000344889.3	-	1	863	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	288						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)			GGCTGTAAATGAGTGGATTGA	0.483																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(862-864)ctC>ctG		olfactory receptor, family 2, subfamily T, member 27							77	77	77					1																	248813322		2172	4269	6441	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813322G>C		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.864C>G	1.37:g.248813322G>C							p.L288L	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	863	-	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)	288						Silent	SNP	ENST00000344889.3	37	c.864C>G	CCDS31124.1																																																																																				0.483	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		10	19	0	0	0	1	0	10	19					C	248813322	G	C	248813322	2	2	471	1	0	0	0	0	0	0	0	1	11021	1277	45	4		4	OR2T27	1	248813322	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	1490322	248813322	437299	9	38742											
CEP68	23177	broad.mit.edu	37	chr2	65299194	65299194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaagcaccttgatagcCgtgtgccagctgaccctgtc	9	15	0	2	rs201157959		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:65299194C>T	ENST00000377990.2	+	3	1167	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	322					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTTGATAGCCGTGTGCCAGC	0.547																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(964-966)Cgt>Tgt		centrosomal protein 68kDa							84	94	91					2																	65299194		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65299194C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"KIAA0582"	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.964C>T	2.37:g.65299194C>T	ENSP00000367229:p.Arg322Cys					CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR	p.R322C	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	1167	+			322					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.964C>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052970	0.55218	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15718	2.41;2.4;2.4	5.65	3.81	0.43845	.	0.812653	0.11540	N	0.553841	T	0.21103	0.0508	L	0.29908	0.895	0.09310	N	0.999998	D;D;D;D;D	0.76494	0.998;0.996;0.998;0.999;0.996	P;P;P;P;P	0.57776	0.731;0.648;0.731;0.827;0.736	T	0.13683	-1.0500	10	0.72032	D	0.01	-0.4907	3.9653	0.09429	0.1696:0.5808:0.1636:0.086	.	310;322;322;322;322	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	C	322;322;322;310	ENSP00000367229:R322C;ENSP00000438306:R322C;ENSP00000260569:R322C	ENSP00000260569:R322C	R	+	1	0	CEP68	65152698	0.000000	0.05858	0.090000	0.20809	0.680000	0.39746	0.369000	0.20416	1.344000	0.45657	0.484000	0.47621	CGT		0.547	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		20	74	0	0	0	1	0	20	74					T	65299194	C	T	65299194	3	4	471	1	0	0	0	0	1	0	0	0	3258	652	23	1	970	1	CEP68	2	65299194	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		65299194	177900179	10	38743											
GGCX	2677	broad.mit.edu	37	chr2	85780433	85780433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagctcccagctgatgGcgcagccctggcttctggcc	13	15	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:85780433G>A	ENST00000233838.4	-	8	1157	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.R302R	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	359					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CCAGCTGATGGCGCAGCCCTG	0.577																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1075-1077)cgC>cgT		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						73	80	78					2																	85780433		2203	4300	6503	SO:0001819	synonymous_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85780433G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"vitamin K-dependent gamma-carboxylase"	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1077C>T	2.37:g.85780433G>A						GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.R302R	p.R359R	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			8	1157	-			359					B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	c.1077C>T	CCDS1978.1																																																																																				0.577	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		17	105	0	0	0	1	0	17	105					A	85780433	G	A	85780433	2	1	471	1	0	0	0	0	0	0	0	1	6356	1190	42	2		2	GGCX	2	85780433	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	20481239	85780433	157418940	11	38744											
LRP2	4036	broad.mit.edu	37	chr2	170031819	170031819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcccagtcggcagaagCgctgcgggcaaagggccagt	15	12	0	1	rs545303364		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:170031819C>T	ENST00000263816.3	-	55	10937	c.10652G>A	c.(10651-10653)cGc>cAc	p.R3551H	LRP2_ENST00000461418.1_5'Flank	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3551	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	p.R3551H(2)		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)"	TCGGCAGAAGCGCTGCGGGCA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		16743	0.0		0.0	False		,,,				2504	0.001					ENST00000263816.3																			2	Substitution - Missense(2)	p.R3551H(2)	biliary_tract(1)|breast(1)	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						c.(10651-10653)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						82	79	80					2																	170031819		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170031819C>T		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.10652G>A	2.37:g.170031819C>T	ENSP00000263816:p.Arg3551His						p.R3551H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	55	10937	-			3551			LDL-receptor class A 27.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10652G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398154	0.83120	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.91407	-2.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95686	0.8597	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95232	0.8343	10	0.54805	T	0.06	.	19.8706	0.96849	0.0:1.0:0.0:0.0	.	3551	P98164	LRP2_HUMAN	H	3551;246	ENSP00000263816:R3551H	ENSP00000263816:R3551H	R	-	2	0	LRP2	169740065	1.000000	0.71417	0.962000	0.40283	0.143000	0.21401	7.629000	0.83207	2.691000	0.91804	0.563000	0.77884	CGC		0.532	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	25	0	0	0	1	0	28	25					T	170031819	C	T	170031819	3	4	471	1	0	0	0	0	1	0	0	0	8956	768	27	1	3415	1	LRP2	2	170031819	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	84251386	170031819	73167554	12	38745											
GLB1L	79411	broad.mit.edu	37	chr2	220108252	220108252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtagcgtcaggctgagcGgcagcagcagggaacgaagg	18	9	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:220108252G>A	ENST00000295759.7	-	2	357	c.44C>T	c.(43-45)cCg>cTg	p.P15L	STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409260.1_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L|STK16_ENST00000396738.2_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCTGAGCGGCAGCAGCAG	0.612																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(43-45)cCg>cTg		galactosidase, beta 1-like							77	67	70					2																	220108252		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108252G>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.44C>T	2.37:g.220108252G>A	ENSP00000295759:p.Pro15Leu					GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L	p.P15L			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	357	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	15					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.44C>T	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571796	0.45798	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.96745	-4.11;-3.88;-4.11;-3.88;-3.15	4.97	-8.37	0.00976	.	1.389420	0.04151	N	0.321248	D	0.86301	0.5900	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.81709	-0.0809	10	0.11182	T	0.66	1.4498	4.5354	0.12026	0.5913:0.099:0.1192:0.1905	.	15;15	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	L	15	ENSP00000295759:P15L;ENSP00000386354:P15L;ENSP00000375939:P15L;ENSP00000348628:P15L;ENSP00000400738:P15L	ENSP00000295759:P15L	P	-	2	0	GLB1L	219816496	0.002000	0.14202	0.001000	0.08648	0.660000	0.38997	-0.805000	0.04530	-1.875000	0.01132	0.563000	0.77884	CCG		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		12	36	0	0	0	1	0	12	36					A	220108252	G	A	220108252	3	1	471	1	0	0	0	0	1	0	0	0	6428	1116	39	1	1984	1	GLB1L	2	220108252	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	50076433	220108252	23091121	13	38746											
UBE2F	140739	broad.mit.edu	37	chr2	238925257	238925257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgaaactgaagttccCgatgcgtacaacatggtggt	11	8	0	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:238925257C>T	ENST00000272930.4	+	5	458	c.264C>T	c.(262-264)ccC>ccT	p.P88P	UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000409953.1_Silent_p.P64P|UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F_ENST00000414443.1_Silent_p.P56P	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	88					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CTGAAGTTCCCGATGCGTACA	0.458																																						ENST00000272930.4																			0				endometrium(1)|large_intestine(1)	2						c.(262-264)ccC>ccT		ubiquitin-conjugating enzyme E2F (putative)							135	139	138					2																	238925257		2203	4300	6503	SO:0001819	synonymous_variant	140739				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding	g.chr2:238925257C>T	BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.264C>T	2.37:g.238925257C>T						UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000414443.1_Silent_p.P56P|UBE2F_ENST00000409953.1_Silent_p.P64P	p.P88P	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)	5	458	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	88					A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Silent	SNP	ENST00000272930.4	37	c.264C>T	CCDS2523.1																																																																																				0.458	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678		16	116	0	0	0	1	0	16	116					T	238925257	C	T	238925257	2	4	471	1	0	0	0	0	0	0	0	1	16852	639	23	1		1	UBE2F	2	238925257	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	18817005	238925257	4274116	14	38747											
NISCH	11188	broad.mit.edu	37	chr3	52525405	52525405	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcacgtgcttgacgcgGgacagctacctgacgcactg	14	12	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:52525405G>T	ENST00000479054.1	+	21	3852	c.3780G>T	c.(3778-3780)cgG>cgT	p.R1260R	NISCH_ENST00000345716.4_Silent_p.R1260R			Q9Y2I1	NISCH_HUMAN	nischarin	1260					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTTGACGCGGGACAGCTACC	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3778-3780)cgG>cgT		nischarin							87	65	73					3																	52525405		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525405G>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3780G>T	3.37:g.52525405G>T						NISCH_ENST00000479054.1_Silent_p.R1260R	p.R1260R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	20	3914	+			1260					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3780G>T	CCDS33767.1																																																																																				0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		6	27	1	0	3.59834e-05	1	3.64568e-05	6	27					T	52525405	G	T	52525405	2	4	471	1	0	0	0	0	0	0	0	1	10432	1219	43	4		4	NISCH	3	52525405	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		52525405	145497025	15	38748											
MAGI1	9223	broad.mit.edu	37	chr3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagattttaaaaggatctgGttttttctggccagagctgt	10	7	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					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)	p.P789T(2)		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)		AAAGGATCTGGTTTTTTCTGG	0.567																																						ENST00000330909.8																			2	Substitution - Missense(2)	p.P789T(2)	large_intestine(2)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2365-2367)Cca>Aca		membrane associated guanylate kinase, WW and PDZ domain containing 1							96	96	96					3																	65376868		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376868G>T	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.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr					MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T	p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2364	-		Lung NSC(201;0.0016)	789					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2365C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		9	79	1	0	0.000274275	1	0.000274275	9	79					T	65376868	G	T	65376868	3	4	471	1	0	0	0	0	1	0	0	0	9190	1261	44	4	2297	4	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	12851463	65376868	132645562	16	38749											
FAM114A1	92689	broad.mit.edu	37	chr4	38893436	38893436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatctctgctgtcgtcaGcatctgccacagtaggtaag	10	11	3	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:38893436G>A	ENST00000358869.2	+	4	597	c.421G>A	c.(421-423)Gca>Aca	p.A141T	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	141						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCTGTCGTCAGCATCTGCCAC	0.473																																						ENST00000358869.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(421-423)Gca>Aca		family with sequence similarity 114, member A1							122	116	118					4																	38893436		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38893436G>A		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.421G>A	4.37:g.38893436G>A	ENSP00000351740:p.Ala141Thr					FAM114A1_ENST00000515037.1_5'UTR	p.A141T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN			4	597	+			141					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.421G>A	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686808	0.68157	.	.	ENSG00000197712	ENST00000358869	T	0.61510	0.1	5.96	5.96	0.96718	.	0.051893	0.85682	D	0.000000	T	0.78194	0.4245	M	0.83483	2.645	0.58432	D	0.999991	D	0.76494	0.999	D	0.75020	0.985	T	0.78879	-0.2030	9	.	.	.	-18.7984	17.336	0.87281	0.0:0.0:1.0:0.0	.	141	Q8IWE2	NXP20_HUMAN	T	141	ENSP00000351740:A141T	.	A	+	1	0	FAM114A1	38569831	1.000000	0.71417	0.964000	0.40570	0.054000	0.15201	5.437000	0.66544	2.831000	0.97527	0.650000	0.86243	GCA		0.473	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		21	30	0	0	0	1	0	21	30					A	38893436	G	A	38893436	3	1	471	1	0	0	0	0	1	0	0	0	5403	971	34	2	427	2	FAM114A1	4	38893436	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		38893436	152260840	17	38750											
DCHS2	54798	broad.mit.edu	37	chr4	155180800	155180800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatcctgtatcaagactGctactttgcaataggctcta	6	11	3	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:155180800G>A	ENST00000357232.4	-	20	5320	c.5321C>T	c.(5320-5322)gCa>gTa	p.A1774V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1774	Cadherin 15. {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)		TATCAAGACTGCTACTTTGCA	0.393																																						ENST00000357232.3																			0				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						c.(5320-5322)gCa>gTa		dachsous cadherin-related 2							185	163	171					4																	155180800		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155180800G>A	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.5321C>T	4.37:g.155180800G>A	ENSP00000349768:p.Ala1774Val						p.A1774V	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	20	5320	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1774			Cadherin 15.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5321C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.790	0.711310	0.15239	.	.	ENSG00000197410	ENST00000357232	T	0.36699	1.24	5.52	0.487	0.16842	Cadherin (3);Cadherin-like (1);	0.753321	0.12478	N	0.465386	T	0.19644	0.0472	N	0.12920	0.275	0.09310	N	1	B	0.17667	0.023	B	0.17433	0.018	T	0.19484	-1.0304	10	0.49607	T	0.09	.	6.4899	0.22109	0.2159:0.2555:0.5285:0.0	.	1774	Q6V1P9	PCD23_HUMAN	V	1774	ENSP00000349768:A1774V	ENSP00000349768:A1774V	A	-	2	0	DCHS2	155400250	0.368000	0.25031	0.003000	0.11579	0.367000	0.29736	1.375000	0.34295	0.096000	0.17463	0.655000	0.94253	GCA		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		21	67	0	0	0	1	0	21	67					A	155180800	G	A	155180800	3	1	471	1	0	0	0	0	1	0	0	0	4288	1319	46	2	3453	2	DCHS2	4	155180800	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	116287364	155180800	35973476	18	38751											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307730	140307730	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaagtcctgatcacggcctCagatagtggctcacccccac	8	17	3	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:140307730C>T	ENST00000253807.2	+	1	1253	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	418	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)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACGGCCTCAGATAGTGGC	0.517																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1252-1254)tCa>tTa									76	75	76					5																	140307730		2203	4300	6503	SO:0001583	missense	0							g.chr5:140307730C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1253C>T	5.37:g.140307730C>T	ENSP00000253807:p.Ser418Leu					PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.S418L	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1253	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1253C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645779	0.29246	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01787	4.64;4.64	5.81	3.0	0.34707	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02727	0.0082	L	0.41415	1.275	0.18873	N	0.999987	P;P	0.48998	0.918;0.728	P;B	0.45712	0.491;0.343	T	0.47898	-0.9081	9	0.54805	T	0.06	.	9.7401	0.40413	0.0:0.7556:0.1151:0.1293	.	418;418	Q9H158;Q9H158-2	PCDC1_HUMAN;.	L	418	ENSP00000386356:S418L;ENSP00000253807:S418L	ENSP00000253807:S418L	S	+	2	0	PCDHAC1	140287914	0.000000	0.05858	0.540000	0.28089	0.452000	0.32318	0.802000	0.27069	0.775000	0.33450	0.462000	0.41574	TCA		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		19	46	0	0	0	1	0	19	46					T	140307730	C	T	140307730	3	4	471	1	0	0	0	0	1	0	0	0	11532	838	29	2	1255	2	PCDHAC1	5	140307730	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		140307730	40607530	19	38752											
NDST1	3340	broad.mit.edu	37	chr5	149915331	149915331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgtgtaccccgtgcacGtgcagctgtacgaggcttgg	16	12	0	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:149915331G>A	ENST00000261797.6	+	6	1823	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	NDST1_ENST00000523767.1_Missense_Mutation_p.V441M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	441	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCGTGCACGTGCAGCTGTA	0.647																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1321-1323)Gtg>Atg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							88	72	77					5																	149915331		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149915331G>A	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1321G>A	5.37:g.149915331G>A	ENSP00000261797:p.Val441Met					NDST1_ENST00000523767.1_Missense_Mutation_p.V441M	p.V441M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1823	+		all_hematologic(541;0.224)	441			Heparan sulfate N-deacetylase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1321G>A	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066559	0.36470	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.43294	0.95;1.27	4.79	2.97	0.34412	.	0.311519	0.38111	N	0.001811	T	0.24275	0.0588	N	0.11560	0.145	0.42796	D	0.993914	B;B;B	0.21821	0.056;0.061;0.056	B;B;B	0.21151	0.027;0.033;0.027	T	0.08534	-1.0717	10	0.49607	T	0.09	.	11.8995	0.52675	0.1505:0.0:0.8495:0.0	.	441;441;441	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	M	441	ENSP00000428604:V441M;ENSP00000261797:V441M	ENSP00000261797:V441M	V	+	1	0	NDST1	149895524	0.981000	0.34729	0.872000	0.34217	0.861000	0.49209	2.010000	0.40913	1.152000	0.42452	-0.137000	0.14449	GTG		0.647	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		12	22	0	0	0	1	0	12	22					A	149915331	G	A	149915331	3	1	471	1	0	0	0	0	1	0	0	0	10255	1145	40	1	1339	1	NDST1	5	149915331	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	9607601	149915331	30999929	20	38753											
ODZ2	57451	broad.mit.edu	37	chr5	167675300	167675300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacgtgggcaaggagccGgccccctttaacctgtatat	10	11	0	0	rs372106540	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:167675300G>A	ENST00000518659.1	+	27	7395	c.7356G>A	c.(7354-7356)ccG>ccA	p.P2452P	TENM2_ENST00000545108.1_Silent_p.P2451P|TENM2_ENST00000520394.1_Silent_p.P2213P|TENM2_ENST00000403607.2_Silent_p.P2276P|TENM2_ENST00000519204.1_Silent_p.P2331P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2452					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)										GCAAGGAGCCGGCCCCCTTTA	0.507													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19632	0.0		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(6991-6993)ccG>ccA		teneurin transmembrane protein 2		G		3,3879		0,3,1938	62	62	62		7329	-8.7	0.7	5		62	0,8276		0,0,4138	no	coding-synonymous	ODZ2	NM_001122679.1		0,3,6076	AA,AG,GG		0.0,0.0773,0.0247		2443/2766	167675300	3,12155	1941	4138	6079	SO:0001819	synonymous_variant	57451							g.chr5:167675300G>A	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.7356G>A	5.37:g.167675300G>A						TENM2_ENST00000403607.2_Silent_p.P2276P|TENM2_ENST00000518659.1_Silent_p.P2452P|TENM2_ENST00000520394.1_Silent_p.P2213P|TENM2_ENST00000545108.1_Silent_p.P2451P	p.P2331P							26	7111	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.6993G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		8	35	0	0	0	1	0	8	35					A	167675300	G	A	167675300	2	1	471	1	0	0	0	0	0	0	0	1	10835	1103	39	1		1	ODZ2	5	167675300	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	17759969	167675300	13239960	21	38754											
AMZ1	155185	broad.mit.edu	37	chr7	2752024	2752024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccaggaggcgggggagCcgtcagtgtgggaggacacc	19	11	1	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:2752024C>T	ENST00000312371.4	+	7	1377	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	337							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)		GGCGGGGGAGCCGTCAGTGTG	0.672																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1009-1011)Ccg>Tcg		archaelysin family metallopeptidase 1							24	28	27					7																	2752024		2200	4299	6499	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752024C>T	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.1009C>T	7.37:g.2752024C>T	ENSP00000308149:p.Pro337Ser					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V	p.P337S	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1377	+		Ovarian(82;0.0779)	337					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1009C>T	CCDS34589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.201|4.201	0.036042|0.036042	0.08148|0.08148	.|.	.|.	ENSG00000174945|ENSG00000174945	ENST00000407112|ENST00000312371	T|T	0.36878|0.23552	1.23|1.9	4.66|4.66	2.44|2.44	0.29823|0.29823	.|.	.|0.247616	.|0.28130	.|N	.|0.016489	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B|B	0.06786|0.14438	0.001|0.01	B|B	0.09377|0.08055	0.004|0.003	T|T	0.26950|0.26950	-1.0088|-1.0088	9|10	0.52906|0.10636	T|T	0.07|0.68	-30.2079|-30.2079	8.629|8.629	0.33908|0.33908	0.0:0.7156:0.0:0.2844|0.0:0.7156:0.0:0.2844	.|.	280|337	B3KRS0|Q400G9	.|AMZ1_HUMAN	V|S	280|337	ENSP00000386020:A280V|ENSP00000308149:P337S	ENSP00000386020:A280V|ENSP00000308149:P337S	A|P	+|+	2|1	0|0	AMZ1|AMZ1	2718550|2718550	0.000000|0.000000	0.05858|0.05858	0.029000|0.029000	0.17559|0.17559	0.074000|0.074000	0.17049|0.17049	-0.545000|-0.545000	0.06069|0.06069	0.946000|0.946000	0.37632|0.37632	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	17	0	0	0	1	0	7	17					T	2752024	C	T	2752024	3	4	471	1	0	0	0	0	1	0	0	0	596	739	26	2	1031	2	AMZ1	7	2752024	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		2752024	156386639	22	38755											
ASNS	440	broad.mit.edu	37	chr7	97482450	97482450	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcactgaaggcttctttTggtcgccagagaatctcttt	8	11	3	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:97482450T>C	ENST00000394309.3	-	12	1869	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	ASNS_ENST00000455086.1_Silent_p.P383P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000175506.4_Silent_p.P466P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000422745.1_Silent_p.P445P	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	466	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGGCTTCTTTTGGTCGCCAGA	0.373																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(1396-1398)ccA>ccG		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						45	43	43					7																	97482450		2203	4300	6503	SO:0001819	synonymous_variant	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97482450T>C	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1398A>G	7.37:g.97482450T>C						ASNS_ENST00000422745.1_Silent_p.P445P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000394309.3_Silent_p.P466P|ASNS_ENST00000455086.1_Silent_p.P383P	p.P466P	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			13	1926	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		466			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	c.1398A>G	CCDS5652.1																																																																																				0.373	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		13	58	0	0	0	1	0	13	58					C	97482450	T	C	97482450	2	2	471	1	0	0	0	0	0	0	0	1	1048	1799	63	3		3	ASNS	7	97482450	Silent	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	94730426	97482450	61656213	23	38756											
MUC17	140453	broad.mit.edu	37	chr7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccacgccagtggccaTtcctgaggctagcacccttt	9	16	0	1	rs145514577		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	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)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		25521	0.0		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				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						c.(9178-9180)aTt>aGt		mucin 17, cell surface associated							275	283	280					7																	100683876		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683876T>G	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.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser						p.I3060S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3060			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9179T>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	242	0	0	0	1	0	4	242					G	100683876	T	G	100683876	3	3	471	1	0	0	0	0	1	0	0	0	9974	1493	52	5	9189	5	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	3201426	100683876	58454787	24	38757											
FABP4	2167	broad.mit.edu	37	chr8	82392665	82392665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccttatttctcaccttgActttcctgtcatctgcagtg	5	13	3	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr8:82392665A>G	ENST00000256104.4	-	2	337	c.242T>C	c.(241-243)gTc>gCc	p.V81A	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	81					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			TCTCACCTTGACTTTCCTGTC	0.378																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(241-243)gTc>gCc		fatty acid binding protein 4, adipocyte							115	116	115					8																	82392665		2203	4300	6503	SO:0001583	missense	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82392665A>G	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.242T>C	8.37:g.82392665A>G	ENSP00000256104:p.Val81Ala					RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	p.V81A	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		2	337	-			81					Q6IBA1	Missense_Mutation	SNP	ENST00000256104.4	37	c.242T>C	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280524	0.40294	.	.	ENSG00000170323	ENST00000256104	T	0.10099	2.91	5.21	5.21	0.72293	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.227157	0.43260	D	0.000590	T	0.16938	0.0407	M	0.78285	2.405	0.28255	N	0.925095	B	0.22909	0.077	B	0.34991	0.193	T	0.12967	-1.0527	10	0.44086	T	0.13	.	6.2093	0.20619	0.7495:0.1639:0.0866:0.0	.	81	P15090	FABP4_HUMAN	A	81	ENSP00000256104:V81A	ENSP00000256104:V81A	V	-	2	0	FABP4	82555220	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	-0.744000	0.04839	2.202000	0.70862	0.529000	0.55759	GTC		0.378	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		20	85	0	0	0	1	0	20	85					G	82392665	A	G	82392665	3	3	471	1	0	0	0	0	1	0	0	0	5359	275	10	3	168	3	FABP4	8	82392665	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08		82392665	63971357	25	38758											
DNM1	1759	broad.mit.edu	37	chr9	130982298	130982298	+	Frame_Shift_Del	DEL	G	G	-													atcggggtcatcaccaagctGgacctgatggacgagggcac							TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr9:130982298delG	ENST00000372923.3	+	5	713	c.621delG	c.(619-621)ctgfs	p.L207fs	DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000341179.7_Frame_Shift_Del_p.L207fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	207	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCACCAAGCTGGACCTGATGG	0.632																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(619-621)ctfs		dynamin 1							72	56	62					9																	130982298		2203	4300	6503	SO:0001589	frameshift_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130982298delG	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.621delG	9.37:g.130982298delG	ENSP00000362014:p.Leu207fs					DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.L207fs	p.L207fs	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			5	713	+			207					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Frame_Shift_Del	DEL	ENST00000372923.3	37	c.621delG	CCDS6895.1																																																																																				0.632	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		2	4						2	4	---	---	---	---	-	130982298	G	-	130982298	7	5	471	1	0	1	0	1	0	0	0	0	4670	1335	47	0	639	0	DNM1	9	130982298	Frame_Shift_Del	DEL	G	TCGA-TM-A84J-01A-11D-A36O-08		130982298	10231133	26	38759											
UPF2	26019	broad.mit.edu	37	chr10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-													ttcttctgtttcagccccacCttcttcttcttcttcatcct							TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_ENST00000357604.5_In_Frame_Del_p.E1037del|UPF2_ENST00000397053.2_In_Frame_Del_p.E1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcagccccaccttcttcttcttc	0.374																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3109-3114)ggt>g		UPF2 regulator of nonsense transcripts homolog (yeast)																																				SO:0001651	inframe_deletion	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11990430_11990432delCTT	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3110_3112delAAG	10.37:g.11990439_11990441delCTT	ENSP00000348708:p.Glu1037del					UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del	p.EG1037del			Q9HAU5	RENT2_HUMAN			15	3583_3585	-		Renal(717;0.228)	1037			Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	In_Frame_Del	DEL	ENST00000356352.2	37	c.3110_3112delAAG	CCDS7086.1																																																																																				0.374	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			7	477						7	477	---	---	---	---	-	11990432	CTT	-	11990430	7	5	471	1	0	1	0	1	0	0	0	0	17001	681	24	0	734	0	UPF2	10	11990430	In_Frame_Del	DEL	CTT	TCGA-TM-A84J-01A-11D-A36O-08		11990430	123544317	27	38760											
CDC123	8872	broad.mit.edu	37	chr10	12238313	12238313	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcttccgaggcgttaccatCaagaggtgagatgggagggg	16	7	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:12238313C>G	ENST00000281141.4	+	1	349	c.69C>G	c.(67-69)atC>atG	p.I23M	CDC123_ENST00000455773.3_3'UTR|NUDT5_ENST00000378952.3_5'Flank|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M|NUDT5_ENST00000537776.1_5'Flank|NUDT5_ENST00000378940.3_5'Flank|NUDT5_ENST00000491614.1_5'Flank|NUDT5_ENST00000378927.3_5'Flank|NUDT5_ENST00000378937.3_5'Flank	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	23					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCGTTACCATCAAGAGGTGAG	0.567																																						ENST00000281141.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(67-69)atC>atG		cell division cycle 123							94	81	86					10																	12238313		2203	4300	6503	SO:0001583	missense	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12238313C>G	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 7", "cell division cycle 123 homolog (S. cerevisiae)"	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.69C>G	10.37:g.12238313C>G	ENSP00000281141:p.Ile23Met					CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M	p.I23M	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN			1	349	+			23					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	c.69C>G	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639183	0.67244	.	.	ENSG00000151465	ENST00000429258;ENST00000281141;ENST00000378900;ENST00000442050	.	.	.	4.58	3.68	0.42216	.	0.043988	0.85682	D	0.000000	T	0.77025	0.4070	M	0.86268	2.805	0.51012	D	0.999903	P	0.49307	0.922	P	0.59546	0.859	T	0.79564	-0.1751	9	0.52906	T	0.07	-20.2787	12.053	0.53518	0.0:0.9141:0.0:0.0859	.	23	O75794	CD123_HUMAN	M	23	.	ENSP00000281141:I23M	I	+	3	3	CDC123	12278319	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.888000	0.39708	1.282000	0.44496	0.561000	0.74099	ATC		0.567	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		76	683	0	0	0	1	0	76	683					G	12238313	C	G	12238313	3	3	471	1	0	0	0	0	1	0	0	0	3055	816	29	4	71	4	CDC123	10	12238313	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	247883	12238313	123296434	28	38761											
MYO3A	53904	broad.mit.edu	37	chr10	26482183	26482183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagacccccaagacgaccCcggaaacccaaaacattaaa	6	14	0	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:26482183C>T	ENST00000265944.5	+	32	4654	c.4488C>T	c.(4486-4488)ccC>ccT	p.P1496P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1496					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGACGACCCCGGAAACCCA	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4486-4488)ccC>ccT		myosin IIIA							80	78	78					10																	26482183		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26482183C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4488C>T	10.37:g.26482183C>T						MYO3A_ENST00000543632.1_Intron	p.P1496P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			32	4654	+			1496					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.4488C>T	CCDS7148.1																																																																																				0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		13	32	0	0	0	1	0	13	32					T	26482183	C	T	26482183	2	4	471	1	0	0	0	0	0	0	0	1	10076	610	22	2		2	MYO3A	10	26482183	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	14243870	26482183	109052564	29	38762											
DNAJC12	56521	broad.mit.edu	37	chr10	69571296	69571296	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acccaccgtcttcactgagtCattcaaagcttcccactgct	5	16	4	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:69571296C>G	ENST00000225171.2	-	3	435	c.283G>C	c.(283-285)Gac>Cac	p.D95H	DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	95										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTCACTGAGTCATTCAAAGCT	0.502																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.(283-285)Gac>Cac		DnaJ (Hsp40) homolog, subfamily C, member 12							193	153	166					10																	69571296		2203	4300	6503	SO:0001583	missense	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69571296C>G	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.283G>C	10.37:g.69571296C>G	ENSP00000225171:p.Asp95His					DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H	p.D95H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			3	435	-			95					Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	ENST00000225171.2	37	c.283G>C	CCDS7271.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175201	0.57692	.	.	ENSG00000108176	ENST00000225171;ENST00000339758	T;T	0.35236	1.55;1.32	6.07	5.0	0.66597	.	0.154695	0.56097	D	0.000021	T	0.51312	0.1667	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.62365	0.985;0.991	P;P	0.56865	0.764;0.808	T	0.50558	-0.8814	10	0.54805	T	0.06	-16.879	11.9554	0.52978	0.0:0.8725:0.0:0.1275	.	95;95	Q9UKB3-2;Q9UKB3	.;DJC12_HUMAN	H	95	ENSP00000225171:D95H;ENSP00000343575:D95H	ENSP00000225171:D95H	D	-	1	0	DNAJC12	69241302	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	1.608000	0.36847	2.885000	0.99019	0.655000	0.94253	GAC		0.502	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		20	57	0	0	0	1	0	20	57					G	69571296	C	G	69571296	3	3	471	1	0	0	0	0	1	0	0	0	4631	826	29	4	352	4	DNAJC12	10	69571296	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	43089113	69571296	65963451	30	38763											
PKD2L1	9033	broad.mit.edu	37	chr10	102057259	102057259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcctctgcactacccTgtcgggatcctggaaggtcc	13	13	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:102057259T>C	ENST00000318222.3	-	5	1218	c.836A>G	c.(835-837)cAg>cGg	p.Q279R	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	279					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)		TGCACTACCCTGTCGGGATCC	0.597																																						ENST00000318222.3																			0				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						c.(835-837)cAg>cGg		polycystic kidney disease 2-like 1							61	58	59					10																	102057259		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057259T>C	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.836A>G	10.37:g.102057259T>C	ENSP00000325296:p.Gln279Arg					PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R	p.Q279R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1218	-		Colorectal(252;0.117)	279					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.836A>G	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372412	0.42003	.	.	ENSG00000107593	ENST00000353274;ENST00000318222;ENST00000339977	T;T	0.69561	-0.41;-0.41	5.53	4.4	0.53042	Polycystin cation channel, PKD1/PKD2 (1);	0.280340	0.39615	N	0.001317	T	0.43523	0.1251	N	0.10874	0.06	0.26537	N	0.974153	B;B	0.06786	0.001;0.0	B;B	0.12837	0.003;0.008	T	0.25222	-1.0138	10	0.25751	T	0.34	-4.1846	8.0502	0.30572	0.0:0.1566:0.0:0.8434	.	232;279	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	R	279	ENSP00000266049:Q279R;ENSP00000325296:Q279R	ENSP00000325296:Q279R	Q	-	2	0	PKD2L1	102047249	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	3.232000	0.51302	0.931000	0.37242	0.459000	0.35465	CAG		0.597	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		11	1149	0	0	0	1	0	11	1149					C	102057259	T	C	102057259	3	2	471	1	0	0	0	0	1	0	0	0	11967	1580	55	3	1629	3	PKD2L1	10	102057259	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	32485963	102057259	33477488	31	38764											
DUSP5	1847	broad.mit.edu	37	chr10	112262511	112262512	+	Frame_Shift_Del	DEL	GA	GA	-													ctttctactcggaatatcctGagtgttgcgtggatgtaaaa							TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:112262511_112262512delGA	ENST00000369583.3	+	2	696_697	c.412_413delGA	c.(412-414)gagfs	p.E138fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	138	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAATATCCTGAGTGTTGCGTG	0.431																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(412-414)gfs		dual specificity phosphatase 5																																				SO:0001589	frameshift_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262511_112262512delGA	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.412_413delGA	10.37:g.112262511_112262512delGA	ENSP00000358596:p.Glu138fs					DUSP5_ENST00000468749.1_3'UTR	p.E138fs	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	2	696_697	+		Breast(234;0.0848)	138			Rhodanese.		Q12997|Q5T603	Frame_Shift_Del	DEL	ENST00000369583.3	37	c.412_413delGA	CCDS7566.1																																																																																				0.431	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		55	37						55	37	---	---	---	---	-	112262512	GA	-	112262511	7	5	471	1	0	1	0	1	0	0	0	0	4828	1291	45	0	418	0	DUSP5	10	112262511	Frame_Shift_Del	DEL	GA	TCGA-TM-A84J-01A-11D-A36O-08	10205252	112262511	23272236	32	38765											
FAM76B	143684	broad.mit.edu	37	chr11	95512069	95512069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttcaattgacttaTaaggacaaaattgtctgttc	5	7	4	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:95512069T>C	ENST00000358780.5	-	8	1057	c.745A>G	c.(745-747)Ata>Gta	p.I249V	FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	249						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGACTTATAAGGACAAAA	0.333																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(745-747)Ata>Gta		family with sequence similarity 76, member B							102	94	96					11																	95512069		1840	4086	5926	SO:0001583	missense	143684							g.chr11:95512069T>C		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.745A>G	11.37:g.95512069T>C	ENSP00000351631:p.Ile249Val					FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V	p.I249V	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			8	1057	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	249					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.745A>G	CCDS41700.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404938	0.62288	.	.	ENSG00000077458	ENST00000358780;ENST00000536839	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.47716	1.5	0.80722	D	1	B	0.25904	0.137	B	0.25140	0.058	T	0.53272	-0.8462	9	0.32370	T	0.25	-0.3793	16.1611	0.81712	0.0:0.0:0.0:1.0	.	249	Q5HYJ3	FA76B_HUMAN	V	249;248	.	ENSP00000351631:I249V	I	-	1	0	FAM76B	95151717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.272000	0.75746	0.460000	0.39030	ATA		0.333	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		23	43	0	0	0	1	0	23	43					C	95512069	T	C	95512069	3	2	471	1	0	0	0	0	1	0	0	0	5625	1406	49	3	286	3	FAM76B	11	95512069	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		95512069	39494447	33	38766											
ATM	472	broad.mit.edu	37	chr11	108158380	108158382	+	In_Frame_Del	DEL	GAC	GAC	-													attgtggtggagttattgatGacgttacatgagccagcaaa					rs587781785		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:108158380_108158382delGAC	ENST00000452508.2	+	28	4236_4238	c.4047_4049delGAC	c.(4045-4050)atgacg>atg	p.T1350del	ATM_ENST00000278616.4_In_Frame_Del_p.T1350del			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1350					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)	AGTTATTGATGACGTTACATGAG	0.345			"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)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				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						c.(4045-4050)atg>at	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001651	inframe_deletion	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108158380_108158382delGAC	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.4047_4049delGAC	11.37:g.108158380_108158382delGAC	ENSP00000388058:p.Thr1350del	TSP Lung(14;0.12)				ATM_ENST00000452508.2_In_Frame_Del_p.MT1349del	p.MT1349del	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		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)	27	4432_4434	+		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)	1349					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	In_Frame_Del	DEL	ENST00000452508.2	37	c.4047_4049delGAC	CCDS31669.1																																																																																				0.345	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		71	7						71	7	---	---	---	---	-	108158382	GAC	-	108158380	7	5	471	1	0	1	0	1	0	0	0	0	1109	1290	45	0	4149	0	ATM	11	108158380	In_Frame_Del	DEL	GAC	TCGA-TM-A84J-01A-11D-A36O-08	12646311	108158380	26848136	34	38767											
NCAPD3	23310	broad.mit.edu	37	chr11	134080162	134080162	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatactcaacttacttcttAcctcaatatcttctctcctg	1	13	5	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:134080162A>C	ENST00000534548.2	-	4	632		c.e4+1			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						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)		CTTACTTCTTACCTCAATATC	0.383																																						ENST00000534548.2																			0				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						c.e4+1		non-SMC condensin II complex, subunit D3							143	133	137					11																	134080162		2201	4297	6498	SO:0001630	splice_region_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134080162A>C	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.567+1T>G	11.37:g.134080162A>C								NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		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)	4	632	-	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)						A6NFS2|Q4KMQ9	Splice_Site	SNP	ENST00000534548.2	37		CCDS31723.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639217	0.47153	.	.	ENSG00000151503	ENST00000534548	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6661	0.77230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCAPD3	133585372	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	6.884000	0.75600	2.285000	0.76669	0.533000	0.62120	.		0.383	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	Intron	31	66	0	0	0	1	0	31	66					C	134080162	A	C	134080162	5	2	471	1	0	0	0	0	0	0	1	0	10206	405	14	5	4055	5	NCAPD3	11	134080162	Splice_Site	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	25921782	134080162	926354	35	38768											
CD163L1	283316	broad.mit.edu	37	chr12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactcatttcctttgcaccGcatgtcatccaaccagatgg	7	13	2	2	rs372730324		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0031					ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3940-3942)Cgg>Tgg		CD163 molecule-like 1							146	133	137					12																	7522052		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522052G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3940C>T	12.37:g.7522052G>A	ENSP00000315945:p.Arg1314Trp					CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W	p.R1314W			Q9NR16	C163B_HUMAN			15	3997	-			1314			SRCR 12.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3940C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026180	0.35701	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.37752	1.18;1.18;1.18	2.67	-2.55	0.06288	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.561810	0.04732	U	0.421283	T	0.49218	0.1544	M	0.76727	2.345	0.09310	N	1	P;P	0.45428	0.858;0.754	P;B	0.49301	0.606;0.109	T	0.56956	-0.7893	10	0.72032	D	0.01	.	11.2601	0.49078	0.0:0.0:0.2165:0.7835	.	1324;1314	E7EVK4;Q9NR16	.;C163B_HUMAN	W	1314;1324;1314	ENSP00000315945:R1314W;ENSP00000393474:R1324W;ENSP00000379871:R1314W	ENSP00000315945:R1314W	R	-	1	2	CD163L1	7413319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.786000	0.00366	-0.608000	0.05731	0.563000	0.77884	CGG		0.572	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		4	120	0	0	0	1	0	4	120					A	7522052	G	A	7522052	3	1	471	1	0	0	0	0	1	0	0	0	2968	1086	38	1	441	1	CD163L1	12	7522052	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		7522052	126329843	36	38769											
AQP2	359	broad.mit.edu	37	chr12	50349300	50349300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgaagggcctggagcCggacaccgattgggaggagc	18	9	0	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:50349300C>T	ENST00000199280.3	+	4	810	c.725C>T	c.(724-726)cCg>cTg	p.P242L	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	242					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCCTGGAGCCGGACACCGAT	0.692																																						ENST00000199280.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						c.(724-726)cCg>cTg		aquaporin 2 (collecting duct)							18	21	20					12																	50349300		2202	4300	6502	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50349300C>T		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"Ion channels / Aquaporins"	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.725C>T	12.37:g.50349300C>T	ENSP00000199280:p.Pro242Leu					RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	p.P242L	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN			4	810	+			242					Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.725C>T	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528662	0.85706	.	.	ENSG00000167580	ENST00000199280	D	0.87103	-2.21	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000009	D	0.91290	0.7254	M	0.69358	2.11	0.58432	D	0.999998	D	0.89917	1.0	P	0.61328	0.887	D	0.91188	0.4981	9	.	.	.	-38.469	15.5365	0.76007	0.0:1.0:0.0:0.0	.	242	P41181	AQP2_HUMAN	L	242	ENSP00000199280:P242L	.	P	+	2	0	AQP2	48635567	0.997000	0.39634	0.972000	0.41901	0.965000	0.64279	3.652000	0.54439	2.345000	0.79718	0.561000	0.74099	CCG		0.692	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		8	13	0	0	0	1	0	8	13					T	50349300	C	T	50349300	3	4	471	1	0	0	0	0	1	0	0	0	826	652	23	1	739	1	AQP2	12	50349300	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	42827248	50349300	83502595	37	38770											
KIAA0748	9840	broad.mit.edu	37	chr12	55357560	55357560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggggtcttccatttcaatCctccgcacctgggacttcag	9	14	3	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:55357560C>T	ENST00000449076.1	-	8	753	c.621G>A	c.(619-621)agG>agA	p.R207R	TESPA1_ENST00000532804.1_Silent_p.R69R|TESPA1_ENST00000524622.1_Silent_p.R69R|TESPA1_ENST00000316577.8_Silent_p.R207R|TESPA1_ENST00000531122.1_Silent_p.R69R|TESPA1_ENST00000524959.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	207					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)											CCATTTCAATCCTCCGCACCT	0.542																																						ENST00000524622.1																			0											c.(205-207)agG>agA		thymocyte expressed, positive selection associated 1							52	56	55					12																	55357560		1913	4126	6039	SO:0001819	synonymous_variant	9840							g.chr12:55357560C>T	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.621G>A	12.37:g.55357560C>T						TESPA1_ENST00000531122.1_Silent_p.R69R|TESPA1_ENST00000532804.1_Silent_p.R69R|TESPA1_ENST00000449076.1_Silent_p.R207R|TESPA1_ENST00000316577.8_Silent_p.R207R|TESPA1_ENST00000524959.1_5'UTR	p.R69R	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			6	868	-			207					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	c.207G>A	CCDS44913.1																																																																																				0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		14	18	0	0	0	1	0	14	18					T	55357560	C	T	55357560	2	4	471	1	0	0	0	0	0	0	0	1	8190	854	30	2		2	KIAA0748	12	55357560	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	5008260	55357560	78494335	38	38771											
CCT2	10576	broad.mit.edu	37	chr12	69979304	69979304	+	Start_Codon_Del	DEL	G	G	-													gcggaactcctcggaaccatGgtgagcctgactcccctgcc							TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:69979304delG	ENST00000299300.6	+	0	191				CCT2_ENST00000543146.2_5'Flank|CCT2_ENST00000544368.2_Start_Codon_Del|MIR3913-2_ENST00000577744.1_RNA	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)						'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)			TCGGAACCATGGTGAGCCTGA	0.622											OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299300.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24								chaperonin containing TCP1, subunit 2 (beta)							135	89	105					12																	69979304		2201	4295	6496	SO:0001582	initiator_codon_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69979304delG	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		12.37:g.69979304delG			OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1118	CCT2_ENST00000544368.2_Start_Codon_Del		NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	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)		0	191	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)							A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Translation_Start_Site	DEL	ENST00000299300.6	37		CCDS8991.1																																																																																				0.622	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		2	4						2	4	---	---	---	---	-	69979304	G	-	69979304	7	5	471	1	0	1	0	1	0	0	0	0	2953	1362	47	0	5	0	CCT2	12	69979304	Start_Codon_Del	DEL	G	TCGA-TM-A84J-01A-11D-A36O-08	14621744	69979304	63872591	39	38772											
C12orf42	374470	broad.mit.edu	37	chr12	103700000	103700000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggtgctggagaggaaCggaattcttcatagctttct	13	6	3	1	rs199701137		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:103700000C>T	ENST00000378113.2	-	5	608	c.383G>A	c.(382-384)cGt>cAt	p.R128H	C12orf42_ENST00000548048.1_Missense_Mutation_p.R61H|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	128								p.R128H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGGAGAGGAACGGAATTCTTC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.0					ENST00000548048.1																			1	Substitution - Missense(1)	p.R128H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(181-183)cGt>cAt		chromosome 12 open reading frame 42		C	HIS/ARG,HIS/ARG	3,3703		0,3,1850	83	84	84		383,383	0.2	0	12		84	1,8195		0,1,4097	no	missense,missense	C12orf42	NM_001099336.1,NM_198521.2	29,29	0,4,5947	TT,TC,CC		0.0122,0.0809,0.0336	possibly-damaging,possibly-damaging	128/361,128/361	103700000	4,11898	1853	4098	5951	SO:0001583	missense	374470							g.chr12:103700000C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.383G>A	12.37:g.103700000C>T	ENSP00000367353:p.Arg128His					C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.R128H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H	p.R61H			Q96LP6	CL042_HUMAN			8	678	-			128					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.182G>A	CCDS44963.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.155	0.027219	0.08054	8.09E-4	1.22E-4	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.22	0.188	0.15114	.	2.752080	0.01310	N	0.010595	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	P	0.52692	0.955	B	0.38562	0.276	T	0.15093	-1.0449	10	0.12766	T	0.61	2.5403	3.721	0.08456	0.3678:0.4415:0.0:0.1907	.	128	Q96LP6	CL042_HUMAN	H	128;61;128;128	ENSP00000447908:R128H;ENSP00000449362:R61H;ENSP00000367353:R128H;ENSP00000447795:R128H	ENSP00000367353:R128H	R	-	2	0	C12orf42	102224130	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.991000	0.03728	0.034000	0.15491	-0.242000	0.12053	CGT		0.468	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		11	24	0	0	0	1	0	11	24					T	103700000	C	T	103700000	3	4	471	1	0	0	0	0	1	0	0	0	1688	536	19	1	707	1	C12orf42	12	103700000	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	33720696	103700000	30151895	40	38773											
TDP1	55775	broad.mit.edu	37	chr14	90509453	90509453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccttatgtcaaagcacCggatacgcatgggaacatgt	9	10	1	0	rs113382706		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr14:90509453C>T	ENST00000335725.4	+	17	2043	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	598					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTCAAAGCACCGGATACGCAT	0.423								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1792-1794)cCg>cTg	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							118	105	110					14																	90509453		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90509453C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1793C>T	14.37:g.90509453C>T	ENSP00000337353:p.Pro598Leu					TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L	p.P598L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	17	2043	+		all_cancers(154;0.185)	598					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1793C>T	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.503935|3.503935	0.64410|0.64410	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000393454;ENST00000335725;ENST00000357382|ENST00000555880	T;T;T|T	0.64803|0.34472	-0.12;-0.12;-0.12|1.36	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42154|0.42154	0.1190|0.1190	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.51653	1.0;1.0|0.947	D;D|B	0.97110|0.40101	1.0;1.0|0.319	T|T	0.50206|0.50206	-0.8855|-0.8855	10|8	0.59425|.	D|.	0.04|.	-2.9392|-2.9392	15.0181|15.0181	0.71605|0.71605	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359;598|562	Q86TV8;Q9NUW8|G3V2F4	.;TYDP1_HUMAN|.	L|W	598;598;359|562	ENSP00000377099:P598L;ENSP00000337353:P598L;ENSP00000349952:P359L|ENSP00000450628:R562W	ENSP00000337353:P598L|.	P|R	+|+	2|1	0|2	TDP1|TDP1	89579206|89579206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.791000|4.791000	0.62460|0.62460	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.423	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		10	34	0	0	0	1	0	10	34					T	90509453	C	T	90509453	3	4	471	1	0	0	0	0	1	0	0	0	15725	652	23	1	1851	1	TDP1	14	90509453	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		90509453	16840087	41	38774											
DENND4A	10260	broad.mit.edu	37	chr15	65960387	65960387	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggaaatattggacatttaGacatagctgtttttgatcta	8	4	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr15:65960387G>C	ENST00000431932.2	-	27	4938	c.4730C>G	c.(4729-4731)tCt>tGt	p.S1577C	DENND4A_ENST00000443035.3_Missense_Mutation_p.S1620C	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1577					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						TGGACATTTAGACATAGCTGT	0.398																																						ENST00000443035.3																			0				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						c.(4858-4860)tCt>tGt		DENN/MADD domain containing 4A							92	86	88					15																	65960387		1827	4081	5908	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65960387G>C	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.4730C>G	15.37:g.65960387G>C	ENSP00000396830:p.Ser1577Cys					DENND4A_ENST00000431932.2_Missense_Mutation_p.S1577C	p.S1620C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			28	5074	-			1577					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4859C>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939021	0.73557	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.06294	3.34;3.32	5.41	5.41	0.78517	.	0.539211	0.17304	N	0.179144	T	0.11067	0.0270	L	0.51422	1.61	0.48901	D	0.999728	P;P	0.51791	0.948;0.833	B;B	0.42422	0.293;0.387	T	0.03034	-1.1080	10	0.72032	D	0.01	.	19.5488	0.95310	0.0:0.0:1.0:0.0	.	1620;1577	E7EPL3;Q7Z401	.;MYCPP_HUMAN	C	1620;1577	ENSP00000391167:S1620C;ENSP00000396830:S1577C	ENSP00000396830:S1577C	S	-	2	0	DENND4A	63747441	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	4.908000	0.63307	2.680000	0.91292	0.650000	0.86243	TCT		0.398	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		30	22	0	0	0	1	0	30	22					C	65960387	G	C	65960387	3	2	471	1	0	0	0	0	1	0	0	0	4433	942	33	4	885	4	DENND4A	15	65960387	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		65960387	36571005	42	38775											
ABCA3	21	broad.mit.edu	37	chr16	2338249	2338249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggcaccaggacctgtgCcgccaccattttccactcgc	9	17	0	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr16:2338249C>A	ENST00000301732.5	-	21	3482	c.2782G>T	c.(2782-2784)Gca>Tca	p.A928S	ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	928					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)	AGGACCTGTGCCGCCACCATT	0.637																																						ENST00000301732.5																			0				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						c.(2782-2784)Gca>Tca		ATP-binding cassette, sub-family A (ABC1), member 3							40	34	36					16																	2338249		2197	4298	6495	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2338249C>A	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.2782G>T	16.37:g.2338249C>A	ENSP00000301732:p.Ala928Ser					ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S	p.A928S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			21	3482	-		Ovarian(90;0.17)	928					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2782G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658173	0.47467	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.86694	-2.16	5.54	3.52	0.40303	.	0.057553	0.64402	D	0.000002	T	0.78842	0.4347	N	0.21617	0.685	0.80722	D	1	B;B	0.29341	0.036;0.242	B;B	0.29353	0.03;0.101	T	0.72347	-0.4321	10	0.26408	T	0.33	.	14.7946	0.69868	0.0:0.7254:0.2746:0.0	.	932;928	Q4LE27;Q99758	.;ABCA3_HUMAN	S	928;932	ENSP00000301732:A928S	ENSP00000301732:A928S	A	-	1	0	ABCA3	2278250	1.000000	0.71417	0.010000	0.14722	0.531000	0.34715	7.402000	0.79972	0.833000	0.34828	0.655000	0.94253	GCA		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	14	1	0	2.0095e-06	1	2.06308e-06	5	14					A	2338249	C	A	2338249	3	1	471	1	0	0	0	0	1	0	0	0	33	739	26	4	2384	4	ABCA3	16	2338249	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		2338249	88016504	43	38776											
TRPV1	7442	broad.mit.edu	37	chr17	3491593	3491593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcccgtaggcccactcGgtgaacttcctggacaggtg	14	13	0	1	rs568215049	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:3491593G>A	ENST00000571088.1	-	7	1326	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399759.3_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000174621.6_Silent_p.T369T|TRPV1_ENST00000399756.4_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000576351.1_Silent_p.T371T	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	371					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGCCCACTCGGTGAACTTCC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		17453	0.0		0.0	False		,,,				2504	0.002				Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1105-1107)acC>acT		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						27	34	31					17																	3491593		2049	4196	6245	SO:0001819	synonymous_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3491593G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1113C>T	17.37:g.3491593G>A						TRPV1_ENST00000399756.4_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000571088.1_Silent_p.T371T|TRPV1_ENST00000399759.3_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000576351.1_Silent_p.T371T	p.T369T			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	6	1396	-			371					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	c.1107C>T	CCDS45576.1																																																																																				0.637	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		5	3	0	0	0	1	0	5	3					A	3491593	G	A	3491593	2	1	471	1	0	0	0	0	0	0	0	1	16592	1103	39	1		1	TRPV1	17	3491593	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		3491593	77703617	44	38777											
TP53	7157	broad.mit.edu	37	chr17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtagatggccatggcgcGgacgcgggtgccgggcgggg	21	10	0	1	rs587780068		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:7578458G>T	ENST00000269305.4	-	5	661	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GCCATGGCGCGGACGCGGGTG	0.622		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(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	GRCh37	CM004341	TP53	M		c.(472-474)Cgc>Agc	Other conserved DNA damage response genes	tumor protein p53							51	52	51					17																	7578458		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578458G>T	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.472C>A	17.37:g.7578458G>T	ENSP00000269305:p.Arg158Ser	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)				TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000269305.4_Missense_Mutation_p.R158S	p.R158S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	604	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.472C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843183	0.51057	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	N	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.993;0.994;0.998;0.996;0.991;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158S;ENSP00000352610:R158S;ENSP00000269305:R158S;ENSP00000398846:R158S;ENSP00000391127:R158S;ENSP00000391478:R158S;ENSP00000425104:R26S;ENSP00000423862:R65S;ENSP00000424104:R158S	ENSP00000269305:R158S	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	3	1	0	3.90053e-15	1	4.11425e-15	29	3					T	7578458	G	T	7578458	3	4	471	1	0	0	0	0	1	0	0	0	16378	1116	39	4	826	4	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	4086865	7578458	73616752	45	38778											
DNAH9	1770	broad.mit.edu	37	chr17	11835397	11835397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctctttgttacttcCatgcggtggtggcagaaaga	11	8	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:11835397C>T	ENST00000262442.4	+	64	12240	c.12172C>T	c.(12172-12174)Cat>Tat	p.H4058Y	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.H370Y|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4058	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)		TTGTTACTTCCATGCGGTGGT	0.483																																						ENST00000262442.3																			0				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						c.(12172-12174)Cat>Tat		dynein, axonemal, heavy chain 9							282	258	266					17																	11835397		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11835397C>T	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.12172C>T	17.37:g.11835397C>T	ENSP00000262442:p.His4058Tyr					DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y|DNAH9_ENST00000396001.2_Missense_Mutation_p.H370Y	p.H4058Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12240	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4058			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12172C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508519	0.64410	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.34072	1.38;1.38;1.38	4.96	4.96	0.65561	Dynein heavy chain (1);	0.052528	0.64402	D	0.000001	T	0.78960	0.4366	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89114	0.3498	10	0.87932	D	0	.	18.4116	0.90554	0.0:1.0:0.0:0.0	.	4058	Q9NYC9	DYH9_HUMAN	Y	4058;3982;2564;370	ENSP00000262442:H4058Y;ENSP00000414874:H3982Y;ENSP00000379323:H370Y	ENSP00000262442:H4058Y	H	+	1	0	DNAH9	11776122	1.000000	0.71417	0.841000	0.33234	0.061000	0.15899	7.609000	0.82925	2.564000	0.86499	0.563000	0.77884	CAT		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		54	192	0	0	0	1	0	54	192					T	11835397	C	T	11835397	3	4	471	1	0	0	0	0	1	0	0	0	4608	594	21	2	12426	2	DNAH9	17	11835397	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	4256939	11835397	69359813	46	38779											
FBXO47	494188	broad.mit.edu	37	chr17	37118156	37118156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtagtgctccagtataGcagagtcttgtctcctgtca	9	10	4	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:37118156G>A	ENST00000378079.2	-	3	525	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	109								p.A109V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTCCAGTATAGCAGAGTCTTG	0.358																																						ENST00000378079.2																			1	Substitution - Missense(1)	p.A109V(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(325-327)gCt>gTt		F-box protein 47							165	154	158					17																	37118156		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37118156G>A		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.326C>T	17.37:g.37118156G>A	ENSP00000367319:p.Ala109Val						p.A109V	NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN			3	525	-			109					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.326C>T	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426281	0.25726	.	.	ENSG00000204952	ENST00000378079	T	0.69306	-0.39	5.59	-1.86	0.07760	.	1.082310	0.06882	N	0.802676	T	0.49406	0.1555	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.28776	-1.0033	10	0.27082	T	0.32	0.2948	1.4144	0.02299	0.1587:0.3129:0.2276:0.3008	.	109	Q5MNV8	FBX47_HUMAN	V	109	ENSP00000367319:A109V	ENSP00000367319:A109V	A	-	2	0	FBXO47	34371682	0.000000	0.05858	0.001000	0.08648	0.953000	0.61014	-1.413000	0.02473	0.026000	0.15269	0.462000	0.41574	GCT		0.358	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		40	41	0	0	0	1	0	40	41					A	37118156	G	A	37118156	3	1	471	1	0	0	0	0	1	0	0	0	5756	971	34	2	1068	2	FBXO47	17	37118156	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	25282759	37118156	44077054	47	38780											
MRPL27	51264	broad.mit.edu	37	chr17	48447454	48447454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttcccagcatgaacaTagtgacctagaagagaagtc	10	8	0	5	rs148980265		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:48447454T>C	ENST00000225969.4	-	3	222	c.179A>G	c.(178-180)tAt>tGt	p.Y60C	MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C|MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000442592.3_Missense_Mutation_p.Y60C	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	60					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGCATGAACATAGTGACCTAG	0.527													T|||	1	0.000199681	0.0008	0.0	5008	,	,		22366	0.0		0.0	False		,,,				2504	0.0					ENST00000442592.3																			0				endometrium(1)|large_intestine(2)|urinary_tract(1)	4						c.(178-180)tAt>tGt		mitochondrial ribosomal protein L27		T	CYS/TYR	1,4405		0,1,2202	96	88	90		179	5.8	1	17	dbSNP_134	90	0,8600		0,0,4300	no	missense	MRPL27	NM_016504.2	194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	60/149	48447454	1,13005	2203	4300	6503	SO:0001583	missense	51264				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:48447454T>C	AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"Mitochondrial ribosomal proteins / large subunits"	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.179A>G	17.37:g.48447454T>C	ENSP00000225969:p.Tyr60Cys					MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000225969.4_Missense_Mutation_p.Y60C	p.Y60C			Q9P0M9	RM27_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.73e-07)		3	215	-	Breast(11;5.62e-19)		60					B2RE14	Missense_Mutation	SNP	ENST00000225969.4	37	c.179A>G	CCDS11564.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528125	0.64860	2.27E-4	0.0	ENSG00000108826	ENST00000507088;ENST00000225969;ENST00000503633;ENST00000442592;ENST00000511860	T;T;T	0.48201	0.85;0.82;0.83	5.79	5.79	0.91817	.	0.053142	0.85682	D	0.000000	T	0.65260	0.2674	M	0.73372	2.23	0.49915	D	0.999835	D;D	0.89917	1.0;0.992	D;P	0.77004	0.989;0.89	T	0.67329	-0.5698	10	0.52906	T	0.07	-0.8239	10.6303	0.45532	0.2641:0.0:0.0:0.7359	.	60;60	B3KN43;Q9P0M9	.;RM27_HUMAN	C	5;60;60;60;5	ENSP00000225969:Y60C;ENSP00000425126:Y60C;ENSP00000388915:Y60C	ENSP00000225969:Y60C	Y	-	2	0	MRPL27	45802453	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.330000	0.59266	2.205000	0.71048	0.528000	0.53228	TAT		0.527	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1			24	25	0	0	0	1	0	24	25					C	48447454	T	C	48447454	3	2	471	1	0	0	0	0	1	0	0	0	9791	1406	49	3	275	3	MRPL27	17	48447454	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	11329298	48447454	32747756	48	38781											
TANC2	26115	broad.mit.edu	37	chr17	61483616	61483616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaaggccatctaggaacCgtggactttctgcttgcaca	10	12	2	0	rs372775570		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:61483616C>T	ENST00000424789.2	+	19	3349	c.3345C>T	c.(3343-3345)acC>acT	p.T1115T	TANC2_ENST00000389520.4_Silent_p.T1115T|AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1115					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						ATCTAGGAACCGTGGACTTTC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424789.2																			0				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						c.(3343-3345)acC>acT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2		C		0,3866		0,0,1933	159	153	155		3345	-5.3	1	17		155	1,8297		0,1,4148	no	coding-synonymous	TANC2	NM_025185.3		0,1,6081	TT,TC,CC		0.0121,0.0,0.0082		1115/1991	61483616	1,12163	1933	4149	6082	SO:0001819	synonymous_variant	26115						binding	g.chr17:61483616C>T	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.3345C>T	17.37:g.61483616C>T			OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.T1115T|RP11-269G24.3_ENST00000583552.1_RNA	p.T1115T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			19	3349	+			1115					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.3345C>T	CCDS45754.1																																																																																				0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			64	64	0	0	0	1	0	64	64					T	61483616	C	T	61483616	2	4	471	1	0	0	0	0	0	0	0	1	15542	639	23	1		1	TANC2	17	61483616	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	13036162	61483616	19711594	49	38782											
SIRT7	51547	broad.mit.edu	37	chr17	79872257	79872257	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaaggctgccccaacgtCcccctctccccaaagtgcac	6	19	2	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:79872257C>T	ENST00000328666.6	-	7	791	c.729G>A	c.(727-729)ggG>ggA	p.G243G	PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	243	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.G243G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCCAACGTCCCCCTCTCCC	0.637																																						ENST00000328666.6																			1	Substitution - coding silent(1)	p.G243G(1)	endometrium(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(727-729)ggG>ggA		sirtuin 7							46	42	44					17																	79872257		2203	4300	6503	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872257C>T	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.729G>A	17.37:g.79872257C>T							p.G243G	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	791	-	all_neural(118;0.0878)|Ovarian(332;0.12)		243			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.729G>A	CCDS11792.1																																																																																				0.637	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		17	22	0	0	0	1	0	17	22					T	79872257	C	T	79872257	2	4	471	1	0	0	0	0	0	0	0	1	14343	842	30	2		2	SIRT7	17	79872257	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	18388641	79872257	1322953	50	38783											
ABCA7	10347	broad.mit.edu	37	chr19	1041546	1041546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctgtggcctctcttccTcttcttcatcctggtggctg	9	13	4	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:1041546T>C	ENST00000263094.6	+	3	335	c.104T>C	c.(103-105)cTc>cCc	p.L35P	ABCA7_ENST00000435683.2_5'Flank|ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P|AC011558.5_ENST00000585757.1_RNA	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	35					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)		CCTCTCTTCCTCTTCTTCATC	0.647																																						ENST00000263094.6																			0				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						c.(103-105)cTc>cCc		ATP-binding cassette, sub-family A (ABC1), member 7							114	116	116					19																	1041546		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1041546T>C	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.104T>C	19.37:g.1041546T>C	ENSP00000263094:p.Leu35Pro					ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P	p.L35P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		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)	3	335	+		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)	35					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.104T>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288400	0.80803	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.78	4.78	0.61160	.	.	.	.	.	D	0.95500	0.8538	M	0.63208	1.945	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	D	0.95732	0.8775	9	0.87932	D	0	.	12.2354	0.54512	0.0:0.0:0.0:1.0	.	35;35	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	P	35;35;33;35	ENSP00000263094:L35P;ENSP00000431473:L35P;ENSP00000433545:L33P;ENSP00000414062:L35P	ENSP00000263094:L35P	L	+	2	0	ABCA7	992546	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.741000	0.84997	1.794000	0.52575	0.460000	0.39030	CTC		0.647	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		13	59	0	0	0	1	0	13	59					C	1041546	T	C	1041546	3	2	471	1	0	0	0	0	1	0	0	0	37	1551	54	3	110	3	ABCA7	19	1041546	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		1041546	58087437	51	38784											
AP3D1	8943	broad.mit.edu	37	chr19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccagctcgcagatgacaTtgacggcagccgactgaacc	12	13	0	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:2129435T>C	ENST00000345016.5	-	7	845	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.N205S|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					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)		GCAGATGACATTGACGGCAGC	0.577																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(613-615)aAt>aGt		adaptor-related protein complex 3, delta 1 subunit							99	105	103					19																	2129435		1983	4162	6145	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2129435T>C	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.614A>G	19.37:g.2129435T>C	ENSP00000344055:p.Asn205Ser					AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000356926.4_Intron	p.N205S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		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)	7	820	-		Hepatocellular(1079;0.137)	205					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.614A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586684	0.66105	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.12039	2.72;2.72	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.62154	1.92	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.80764	0.994;0.896	T	0.03121	-1.1070	10	0.48119	T	0.1	-50.3823	13.4298	0.61049	0.0:0.0:0.0:1.0	.	205;205	O14617-5;O14617	.;AP3D1_HUMAN	S	205	ENSP00000344055:N205S;ENSP00000347416:N205S	ENSP00000341579:N205S	N	-	2	0	AP3D1	2080435	1.000000	0.71417	0.975000	0.42487	0.298000	0.27526	7.775000	0.85489	1.828000	0.53243	0.533000	0.62120	AAT		0.577	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			11	28	0	0	0	1	0	11	28					C	2129435	T	C	2129435	3	2	471	1	0	0	0	0	1	0	0	0	746	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	1087889	2129435	56999548	52	38785											
ZNF146	7705	broad.mit.edu	37	chr19	36727929	36727929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaaaagccttctctcagcGaacatcacttattgtacatg	7	10	3	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:36727929G>A	ENST00000443387.2	+	4	1579	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.R196Q	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	196					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)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTCTCTCAGCGAACATCACTT	0.418																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(586-588)cGa>cAa		zinc finger protein 146							195	154	168					19																	36727929		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727929G>A	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.587G>A	19.37:g.36727929G>A	ENSP00000392095:p.Arg196Gln					ZNF146_ENST00000443387.2_Missense_Mutation_p.R196Q|ZNF565_ENST00000355114.5_Intron	p.R196Q	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	2036	+	Esophageal squamous(110;0.162)		196					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.587G>A	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	7.785	0.710390	0.15239	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.30448	1.53;1.53	4.3	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32753	N	0.005698	T	0.16471	0.0396	N	0.13140	0.3	0.24901	N	0.992107	B	0.17038	0.02	B	0.04013	0.001	T	0.13229	-1.0517	10	0.42905	T	0.14	-2.2378	8.2916	0.31960	0.189:0.0:0.811:0.0	.	196	Q15072	OZF_HUMAN	Q	196	ENSP00000392095:R196Q;ENSP00000400391:R196Q	ENSP00000392095:R196Q	R	+	2	0	ZNF146	41419769	0.000000	0.05858	0.949000	0.38748	0.214000	0.24535	0.047000	0.14056	1.402000	0.46780	0.561000	0.74099	CGA		0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		4	99	0	0	0	1	0	4	99					A	36727929	G	A	36727929	3	1	471	1	0	0	0	0	1	0	0	0	17730	1058	37	1	589	1	ZNF146	19	36727929	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	34598494	36727929	22401054	53	38786											
PRR12	57479	broad.mit.edu	37	chr19	50099877	50099877	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggccttcttgcaaaAgagccctccgcccccacctc	10	18	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:50099877A>G	ENST00000418929.2	+	4	2297	c.2285A>G	c.(2284-2286)aAg>aGg	p.K762R		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)		TTCTTGCAAAAGAGCCCTCCG	0.697																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2284-2286)aAg>aGg		proline rich 12							10	13	12					19																	50099877		1873	4043	5916	SO:0001583	missense	57479						DNA binding	g.chr19:50099877A>G	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.2285A>G	19.37:g.50099877A>G	ENSP00000394510:p.Lys762Arg						p.K762R	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2297	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	470					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2285A>G	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	A	5.051	0.195094	0.09599	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.25888	N	0.983511	B	0.23128	0.08	B	0.19946	0.027	T	0.13791	-1.0496	7	0.14252	T	0.57	.	10.1899	0.43019	1.0:0.0:0.0:0.0	.	762	Q9ULL5-3	.	R	762	.	ENSP00000394510:K762R	K	+	2	0	PRR12	54791689	0.986000	0.35501	1.000000	0.80357	0.265000	0.26407	1.874000	0.39568	1.673000	0.50895	0.260000	0.18958	AAG		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		9	13	0	0	0	1	0	9	13					G	50099877	A	G	50099877	3	3	471	1	0	0	0	0	1	0	0	0	12584	72	3	3	2299	3	PRR12	19	50099877	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	13371948	50099877	9029106	54	38787											
ZNF671	79891	broad.mit.edu	37	chr19	58232671	58232671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcatgctgctgagagaGgcctgatgctgaagaaggcc	15	9	1	5			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58232671G>A	ENST00000317398.6	-	4	878	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ZNF671_ENST00000335820.3_Silent_p.A163A|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	261					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(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		TGCTGAGAGAGGCCTGATGCT	0.517																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(781-783)gcC>gcT		zinc finger protein 671							77	71	73					19																	58232671		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232671G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.783C>T	19.37:g.58232671G>A						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.A163A	p.A261A	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	878	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	261					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.783C>T	CCDS12961.1																																																																																				0.517	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		12	52	0	0	0	1	0	12	52					A	58232671	G	A	58232671	2	1	471	1	0	0	0	0	0	0	0	1	18075	987	35	2		2	ZNF671	19	58232671	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	8132794	58232671	896312	55	38788											
ZNF446	55663	broad.mit.edu	37	chr19	58991631	58991631	+	Frame_Shift_Del	DEL	T	T	-													tgggagggcttgtctggggcTgccactcctgcccccactgt					rs551383550		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58991631delT	ENST00000594369.1	+	7	1272	c.891delT	c.(889-891)gctfs	p.A298fs	ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	298	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGTCTGGGGCTGCCACTCCTG	0.721																																						ENST00000594369.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(889-891)gcfs		zinc finger protein 446							6	7	6					19																	58991631		2092	4146	6238	SO:0001589	frameshift_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991631delT		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.891delT	19.37:g.58991631delT	ENSP00000472802:p.Ala298fs					ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs	p.A298fs	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1272	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	298			Pro-rich.			Frame_Shift_Del	DEL	ENST00000594369.1	37	c.891delT	CCDS12982.1																																																																																				0.721	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		3	5						3	5	---	---	---	---	-	58991631	T	-	58991631	7	5	471	1	0	1	0	1	0	0	0	0	17916	1567	55	0	913	0	ZNF446	19	58991631	Frame_Shift_Del	DEL	T	TCGA-TM-A84J-01A-11D-A36O-08	758960	58991631	137352	56	38789											
APOL5	80831	broad.mit.edu	37	chr22	36116679	36116679	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacggaggtgaggtctggggGaagtccccagaacctgagtt	16	8	1	3	rs369749894		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:36116679G>A	ENST00000249044.2	+	2	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	40					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGTCTGGGGGAAGTCCccag	0.512																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(118-120)ggG>ggA		apolipoprotein L, 5							70	61	64					22																	36116679		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36116679G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.120G>A	22.37:g.36116679G>A							p.G40G	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			2	120	+			40					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.120G>A	CCDS13920.1																																																																																				0.512	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		181	191	0	0	0	1	0	181	191					A	36116679	G	A	36116679	2	1	471	1	0	0	0	0	0	0	0	1	809	1161	41	2		2	APOL5	22	36116679	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		36116679	15187887	57	38790											
CACNA1I	8911	broad.mit.edu	37	chr22	40037050	40037050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgactttggggcggggCgccaggacctcaatgccagc	14	13	2	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:40037050C>T	ENST00000402142.3	+	6	919	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	307					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)	TGGGGCGGGGCGCCAGGACCT	0.617																																						ENST00000336649.4																			0				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						c.(919-921)Cgc>Tgc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						59	65	63					22																	40037050		2046	4190	6236	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40037050C>T	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.919C>T	22.37:g.40037050C>T	ENSP00000385019:p.Arg307Cys					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C	p.R307C			Q9P0X4	CAC1I_HUMAN			8	919	+	Melanoma(58;0.0749)		307					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.919C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750068	0.69533	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96967	-4.17;-4.11;-4.16;-4.12;-4.19;-4.08	5.21	5.21	0.72293	Ion transport (1);	0.204000	0.43416	D	0.000572	D	0.93769	0.8008	N	0.03050	-0.425	0.44736	D	0.99773	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;P	0.62955	0.909;0.854;0.909;0.877	D	0.95224	0.8336	10	0.56958	D	0.05	.	14.4848	0.67609	0.1475:0.8525:0.0:0.0	.	307;307;307;307	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	307	ENSP00000385019:R307C;ENSP00000384093:R307C;ENSP00000383887:R307C;ENSP00000385680:R307C;ENSP00000337829:R307C;ENSP00000383028:R307C	ENSP00000337829:R307C	R	+	1	0	CACNA1I	38366996	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.716000	0.37981	2.445000	0.82738	0.563000	0.77884	CGC		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	101	0	0	0	1	0	4	101					T	40037050	C	T	40037050	3	4	471	1	0	0	0	0	1	0	0	0	2546	768	27	1	941	1	CACNA1I	22	40037050	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	3920371	40037050	11267516	58	38791											
EIF4G3	8672	broad.mit.edu	37	chr1	21177847	21177847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctccagcatctctctccGctgctcttcttgagactgat	8	14	5	2			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:21177847G>A	ENST00000264211.8	-	22	3702	c.3508C>T	c.(3508-3510)Cgg>Tgg	p.R1170W	EIF4G3_ENST00000602326.1_Missense_Mutation_p.R1176W|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1170					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)		ATCTCTCTCCGCTGCTCTTCT	0.522																																						ENST00000602326.1																			0				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						c.(3526-3528)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 3							144	133	137					1																	21177847		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21177847G>A	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.3508C>T	1.37:g.21177847G>A	ENSP00000264211:p.Arg1170Trp					EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W	p.R1176W	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		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)	26	4109	-		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)	1170					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3526C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704695	0.88924	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.08634	3.61;3.61;3.45;3.07;3.6;3.3	5.73	4.8	0.61643	.	0.263775	0.39083	N	0.001466	T	0.17959	0.0431	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.991;0.997;0.949;0.988;0.965	T	0.03673	-1.1014	10	0.87932	D	0	-11.8661	15.9278	0.79632	0.0:0.0:0.8637:0.1363	.	1365;890;774;1176;1170	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	W	1170;1366;1170;890;660;1176;774	ENSP00000264211:R1170W;ENSP00000383274:R1170W;ENSP00000364071:R890W;ENSP00000442010:R660W;ENSP00000364073:R1176W;ENSP00000444693:R774W	ENSP00000264211:R1170W	R	-	1	2	EIF4G3	21050434	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.822000	0.55708	1.390000	0.46547	0.591000	0.81541	CGG		0.522	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	116	0	0	0	1	0	4	116					A	21177847	G	A	21177847	3	1	472	1	0	0	0	0	1	0	0	0	5038	1086	38	1	1289	1	EIF4G3	1	21177847	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		21177847	228072774	1	38792											
UBXN11	91544	broad.mit.edu	37	chr1	26629321	26629321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccaggattcataggctcCgagggcaggggcacttttcg	13	11	1	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:26629321C>T	ENST00000374222.1	-	3	518	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UBXN11_ENST00000357089.4_Silent_p.S18S|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000314675.7_Silent_p.S18S|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S			Q5T124	UBX11_HUMAN	UBX domain protein 11	18						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S18S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCATAGGCTCCGAGGGCAGGG	0.547																																						ENST00000314675.7																			1	Substitution - coding silent(1)	p.S18S(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(52-54)tcG>tcA		UBX domain protein 11							55	58	57					1																	26629321		1867	4100	5967	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26629321C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.54G>A	1.37:g.26629321C>T						UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374222.1_Silent_p.S18S|UBXN11_ENST00000357089.4_Silent_p.S18S	p.S18S	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			2	133	-			18					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.54G>A	CCDS41288.1																																																																																				0.547	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		16	19	0	0	0	1	0	16	19					T	26629321	C	T	26629321	2	4	472	1	0	0	0	0	0	0	0	1	16910	639	23	1		1	UBXN11	1	26629321	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	5451474	26629321	222621300	2	38793											
DPH5	51611	broad.mit.edu	37	chr1	101458271	101458271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttacactcatataccGtggaggttcatagatcttcc	8	9	3	1	rs116634893	byFrequency	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:101458271G>A	ENST00000370109.3	-	7	668	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	RP11-421L21.2_ENST00000414686.1_RNA|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W|DPH5_ENST00000427040.2_Intron|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	186					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTCATATACCGTGGAGGTTCA	0.418													G|||	20	0.00399361	0.0144	0.0014	5008	,	,		19229	0.0		0.0	False		,,,				2504	0.0					ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(556-558)Cgg>Tgg		diphthamide biosynthesis 5		G	TRP/ARG,TRP/ARG,TRP/ARG	43,3693		0,43,1825	146	141	143		556,556,556	4.2	0.6	1	dbSNP_132	143	0,8214		0,0,4107	yes	missense,missense,missense	DPH5	NM_001077394.1,NM_001077395.1,NM_015958.2	101,101,101	0,43,5932	AA,AG,GG		0.0,1.151,0.3598	probably-damaging,probably-damaging,probably-damaging	186/286,186/285,186/286	101458271	43,11907	1868	4107	5975	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101458271G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"DPH5 homolog (S. cerevisiae)"			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.556C>T	1.37:g.101458271G>A	ENSP00000359127:p.Arg186Trp					DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W	p.R186W	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	7	668	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	186					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.556C>T	CCDS41358.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	17.97	3.517458	0.64634	0.01151	0.0	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	6.06	4.16	0.48862	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (2);	0.097401	0.64402	D	0.000001	T	0.81612	0.4859	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.98;0.988	D	0.85581	0.1240	9	0.87932	D	0	-1.3497	11.1189	0.48277	0.0667:0.0:0.8045:0.1288	.	186;186	Q9H2P9;A8JZY6	DPH5_HUMAN;.	W	186;185;135;186;186	.	ENSP00000339630:R186W	R	-	1	2	DPH5	101230859	1.000000	0.71417	0.584000	0.28653	0.444000	0.32077	5.484000	0.66844	0.855000	0.35359	0.655000	0.94253	CGG		0.418	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		23	48	0	0	0	1	0	23	48					A	101458271	G	A	101458271	3	1	472	1	0	0	0	0	1	0	0	0	4723	1144	40	1	309	1	DPH5	1	101458271	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	74828950	101458271	147792350	3	38794											
USH2A	7399	broad.mit.edu	37	chr1	215848559	215848559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atattcacactgcgtccatgGttgcaaacctgtgtcattat	7	10	2	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:215848559G>T	ENST00000307340.3	-	63	13080	c.12694C>A	c.(12694-12696)Cca>Aca	p.P4232T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4232T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4232	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> R (in USH2A). {ECO:0000269|PubMed:18273898}.		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)		TGCGTCCATGGTTGCAAACCT	0.423										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(12694-12696)Cca>Aca		Usher syndrome 2A (autosomal recessive, mild)							114	110	111					1																	215848559		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848559G>T	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.12694C>A	1.37:g.215848559G>T	ENSP00000305941:p.Pro4232Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P4232T	p.P4232T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13080	-			4232		P -> R (in USH2A).	Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12694C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757886	0.69648	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.68479	-0.33;-0.33	5.26	4.34	0.51931	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000425	D	0.83677	0.5306	M	0.90309	3.105	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	D	0.86939	0.2078	10	0.72032	D	0.01	.	13.751	0.62908	0.0742:0.0:0.9258:0.0	.	4232	O75445	USH2A_HUMAN	T	4232	ENSP00000305941:P4232T;ENSP00000355910:P4232T	ENSP00000305941:P4232T	P	-	1	0	USH2A	213915182	1.000000	0.71417	0.951000	0.38953	0.768000	0.43524	7.474000	0.81024	1.211000	0.43351	0.655000	0.94253	CCA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	100	1	0	4.7546e-09	1	4.89445e-09	16	100					T	215848559	G	T	215848559	3	4	472	1	0	0	0	0	1	0	0	0	17033	1261	44	4	2954	4	USH2A	1	215848559	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	114390288	215848559	33402062	4	38795											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697556	17697556	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttgaggacaactcatattCtgacaagtaatttctcttat	6	7	3	2			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:17697556C>T	ENST00000399080.2	-	1	2150	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	709								p.Q709H(1)		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)					AACTCATATTCTGACAAGTAA	0.313																																						ENST00000399080.2																			1	Substitution - Missense(1)	p.Q709H(1)	lung(1)	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						c.(2125-2127)caG>caA		RAD51 associated protein 2							65	62	63					2																	17697556		1811	4072	5883	SO:0001819	synonymous_variant	729475							g.chr2:17697556C>T	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.2127G>A	2.37:g.17697556C>T							p.Q709Q	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2150	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		709						Silent	SNP	ENST00000399080.2	37	c.2127G>A	CCDS42656.1																																																																																				0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		4	84	0	0	0	1	0	4	84					T	17697556	C	T	17697556	2	4	472	1	0	0	0	0	0	0	0	1	12987	912	32	2		2	RAD51AP2	2	17697556	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08		17697556	225501817	5	38796											
TTC30B	150737	broad.mit.edu	37	chr2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccgaggcctgcagggcgGcaaaaaacttggagcatgca	14	11	0	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953). {ECO:0000305}.	cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(535-537)gCc>gTc		tetratricopeptide repeat domain 30B							115	127	123					2																	178416956		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416956G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.536C>T	2.37:g.178416956G>A	ENSP00000386181:p.Ala179Val						p.A179V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	786	-			179	Missing (in Ref. 1; BAB70953).				Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.536C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704449	0.15172	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.60299	0.2	4.51	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.247267	0.40818	N	0.001008	T	0.51312	0.1667	L	0.42245	1.32	0.20638	N	0.999874	B	0.14805	0.011	B	0.25759	0.063	T	0.45056	-0.9287	10	0.38643	T	0.18	.	14.578	0.68265	0.0:0.1577:0.8423:0.0	.	179	Q8N4P2	TT30B_HUMAN	V	132;179	ENSP00000386181:A179V	ENSP00000386181:A179V	A	-	2	0	TTC30B	178125202	0.007000	0.16637	0.731000	0.30826	0.099000	0.18886	1.796000	0.38794	2.487000	0.83934	0.655000	0.94253	GCC		0.542	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	147	0	0	0	1	0	6	147					A	178416956	G	A	178416956	3	1	472	1	0	0	0	0	1	0	0	0	16696	1203	42	2	1465	2	TTC30B	2	178416956	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	160719400	178416956	64782417	6	38797											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	61	0	0	0	1	0	24	61					T	209113112	C	T	209113112	3	4	472	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	30696156	209113112	34086261	7	38798											
CXCR6	10663	broad.mit.edu	37	chr3	45988956	45988956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacaattccaagacttTttctgcctcccacaatgtgg	8	11	1	2	rs528341308		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:45988956T>C	ENST00000458629.1	+	1	2446	c.983T>C	c.(982-984)tTt>tCt	p.F328S	CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S|CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	328					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCAAGACTTTTTCTGCCTCC	0.483													T|||	1	0.000199681	0.0	0.0	5008	,	,		22037	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(982-984)tTt>tCt		chemokine (C-X-C motif) receptor 6							91	85	87					3																	45988956		2203	4300	6503	SO:0001583	missense	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988956T>C	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.983T>C	3.37:g.45988956T>C	ENSP00000395704:p.Phe328Ser					CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron	p.F328S			O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	2446	+			328					O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	37	c.983T>C	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	T	6.410	0.443853	0.12164	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.46	-5.84	0.02318	.	.	.	.	.	T	0.35068	0.0919	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19451	-1.0305	9	0.21540	T	0.41	.	6.199	0.20565	0.0601:0.1893:0.2246:0.5259	.	328	O00574	CXCR6_HUMAN	S	328	ENSP00000396218:F328S;ENSP00000304414:F328S;ENSP00000395704:F328S;ENSP00000396886:F328S	ENSP00000304414:F328S	F	+	2	0	CXCR6	45963960	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-1.159000	0.03150	-0.617000	0.05664	-0.429000	0.05907	TTT		0.483	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			23	69	0	0	0	1	0	23	69					C	45988956	T	C	45988956	3	2	472	1	0	0	0	0	1	0	0	0	4095	1841	64	3	985	3	CXCR6	3	45988956	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		45988956	152033474	8	38799											
C3orf63	23272	broad.mit.edu	37	chr3	56675529	56675529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaggctgctcatagtcttTcttatctggggtagagttca	11	7	5	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:56675529T>C	ENST00000493960.2	-	15	2477	c.2467A>G	c.(2467-2469)Aaa>Gaa	p.K823E	FAM208A_ENST00000355628.5_Missense_Mutation_p.K823E|FAM208A_ENST00000431842.2_Missense_Mutation_p.K427E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	823							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						TCATAGTCTTTCTTATCTGGG	0.403																																						ENST00000431842.2																			0				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						c.(1279-1281)Aaa>Gaa		family with sequence similarity 208, member A							150	130	137					3																	56675529		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56675529T>C	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.2467A>G	3.37:g.56675529T>C	ENSP00000417509:p.Lys823Glu					FAM208A_ENST00000493960.2_Missense_Mutation_p.K823E|FAM208A_ENST00000355628.5_Missense_Mutation_p.K823E	p.K427E	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			8	2203	-			823					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1279A>G	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	1.636	-0.517849	0.04171	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11063	2.81;2.99;3.02	5.99	3.65	0.41850	.	0.175624	0.41294	D	0.000918	T	0.05227	0.0139	N	0.22421	0.69	0.34028	D	0.65353	B;B;B	0.20052	0.041;0.017;0.005	B;B;B	0.22386	0.039;0.015;0.012	T	0.28681	-1.0036	10	0.02654	T	1	-22.1943	4.3581	0.11188	0.0:0.349:0.0:0.651	.	823;823;427	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	E	427;823;823	ENSP00000399410:K427E;ENSP00000417509:K823E;ENSP00000347845:K823E	ENSP00000347845:K823E	K	-	1	0	C3orf63	56650569	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	3.369000	0.52365	1.091000	0.41335	-0.256000	0.11100	AAA		0.403	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		41	75	0	0	0	1	0	41	75					C	56675529	T	C	56675529	3	2	472	1	0	0	0	0	1	0	0	0	2239	1792	62	3	2645	3	C3orf63	3	56675529	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08	10686573	56675529	141346901	9	38800											
RUFY3	22902	broad.mit.edu	37	chr4	71659525	71659525	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaggctgagcgaagccGccaatctgctgagttggaca	14	12	1	2	rs376846064		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:71659525G>A	ENST00000226328.4	+	0	4233				RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H|RUFY3_ENST00000381006.3_Missense_Mutation_p.R454H	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGCGAAGCCGCCAATCTGCT	0.507																																						ENST00000381006.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(1360-1362)cGc>cAc		RUN and FYVE domain containing 3		G	HIS/ARG	0,4406		0,0,2203	51	49	50		1361	5	1	4		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	RUFY3	NM_001037442.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	454/621	71659525	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71659525G>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71659525G>A						RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H	p.R454H	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		13	1940	+		all_hematologic(202;0.248)	291					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.1361G>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107199	0.77096	0.0	1.16E-4	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.10288	2.91;2.89	5.88	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.54499	0.754	T	0.01480	-1.1344	9	0.66056	D	0.02	0.6659	15.2103	0.73219	0.0676:0.0:0.9324:0.0	.	454	Q7L099-3	.	H	454;401	ENSP00000370394:R454H;ENSP00000425400:R401H	ENSP00000370394:R454H	R	+	2	0	RUFY3	71878389	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.508000	0.81686	1.488000	0.48433	0.655000	0.94253	CGC		0.507	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		24	18	0	0	0	1	0	24	18					A	71659525	G	A	71659525	1	1	472	0	1	0	0	0	0	0	0	0	13740	1087	38	1		1	RUFY3	4	71659525	IGR	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		71659525	119494751	10	38801											
INTU	27152	broad.mit.edu	37	chr4	128629783	128629783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttgggaaacttgaaaaagGaccttccagaaaaagaatta	8	5	0	3			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:128629783G>A	ENST00000335251.6	+	13	2432	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	777					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGAAAAAGGACCTTCCAGA	0.303																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2329-2331)Gac>Aac		inturned planar cell polarity protein							31	31	31					4																	128629783		2193	4281	6474	SO:0001583	missense	27152							g.chr4:128629783G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2329G>A	4.37:g.128629783G>A	ENSP00000334003:p.Asp777Asn						p.D777N	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			13	2432	+			777					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2329G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	4.796	0.148007	0.09134	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.76	3.92	0.45320	.	0.725044	0.13706	N	0.368473	T	0.25791	0.0628	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08310	-1.0728	9	0.08179	T	0.78	-1.1511	5.4648	0.16637	0.3415:0.0:0.6585:0.0	.	777	Q9ULD6	PDZD6_HUMAN	N	777	.	ENSP00000334003:D777N	D	+	1	0	INTU	128849233	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.503000	0.45407	1.235000	0.43724	0.655000	0.94253	GAC		0.303	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		12	24	0	0	0	1	0	12	24					A	128629783	G	A	128629783	3	1	472	1	0	0	0	0	1	0	0	0	7786	1174	41	2	2379	2	INTU	4	128629783	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	56970258	128629783	62524493	11	38802											
TMEM171	134285	broad.mit.edu	37	chr5	72419433	72419433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgtgatcctggcccGctcccgggcgcaacttcagc	14	15	1	1	rs151305324		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr5:72419433G>A	ENST00000454765.2	+	2	706	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H			Q8WVE6	TM171_HUMAN	transmembrane protein 171	78						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ATCCTGGCCCGCTCCCGGGCG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15666	0.0		0.0	False		,,,				2504	0.0				NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(232-234)cGc>cAc		transmembrane protein 171		G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54	53	53		233,233	5.2	1	5	dbSNP_134	53	0,8600		0,0,4300	yes	missense,missense	TMEM171	NM_001161342.1,NM_173490.6	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	78/324,78/325	72419433	2,13004	2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419433G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.233G>A	5.37:g.72419433G>A	ENSP00000415030:p.Arg78His					TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H	p.R78H			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	706	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	78					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.233G>A	CCDS4017.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.9	4.074277	0.76415	4.54E-4	0.0	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.37058	1.22;1.22	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.48786	0.1519	L	0.36672	1.1	0.39032	D	0.959967	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.52660	-0.8546	10	0.72032	D	0.01	-19.4353	13.0871	0.59146	0.0772:0.0:0.9228:0.0	.	78;78	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	H	78	ENSP00000415030:R78H;ENSP00000287773:R78H	ENSP00000287773:R78H	R	+	2	0	TMEM171	72455189	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.058000	0.49939	2.431000	0.82371	0.462000	0.41574	CGC		0.647	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		18	29	0	0	0	1	0	18	29					A	72419433	G	A	72419433	3	1	472	1	0	0	0	0	1	0	0	0	16085	1087	38	1	235	1	TMEM171	5	72419433	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		72419433	108495827	12	38803											
MYLK4	340156	broad.mit.edu	37	chr6	2679602	2679602	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggggcgagaaattctgGggttccaaagttcaccttca	11	9	4	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:2679602G>C	ENST00000274643.7	-	9	1141	c.799C>G	c.(799-801)Cca>Gca	p.P267A	MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAATTCTGGGGTTCCAAAG	0.448																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(799-801)Cca>Gca		myosin light chain kinase family, member 4							201	205	204					6																	2679602		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679602G>C		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"caMLCK like"						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.799C>G	6.37:g.2679602G>C	ENSP00000274643:p.Pro267Ala					MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			9	1141	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	267			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.799C>G	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046900	0.75846	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.46063	0.88;0.88	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	0.45606	D	0.000358	T	0.55386	0.1917	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52815	-0.8525	10	0.42905	T	0.14	.	17.8881	0.88863	0.0:0.0:1.0:0.0	.	267	Q86YV6	MYLK4_HUMAN	A	267	ENSP00000268446:P267A;ENSP00000274643:P267A	ENSP00000268446:P267A	P	-	1	0	MYLK4	2624601	1.000000	0.71417	0.945000	0.38365	0.789000	0.44602	9.869000	0.99810	2.532000	0.85374	0.655000	0.94253	CCA		0.448	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		15	194	0	0	0	1	0	15	194					C	2679602	G	C	2679602	3	2	472	1	0	0	0	0	1	0	0	0	10059	1232	43	4	383	4	MYLK4	6	2679602	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		2679602	168435465	13	38804											
ELOVL2	54898	broad.mit.edu	37	chr6	11005622	11005622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctgccagcatgtacgCggagagaagtgtgattccaa	11	10	1	2	rs146714276	byFrequency	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:11005622C>T	ENST00000354666.3	-	3	321	c.238G>A	c.(238-240)Gcg>Acg	p.A80T		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	80					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGCATGTACGCGGAGAGAAGT	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20819	0.0		0.0	False		,,,				2504	0.0					ENST00000354666.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(238-240)Gcg>Acg		ELOVL fatty acid elongase 2		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	91	87	89		238	-2.5	0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ELOVL2	NM_017770.3	58	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	benign	80/297	11005622	4,13002	2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:11005622C>T	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.238G>A	6.37:g.11005622C>T	ENSP00000346693:p.Ala80Thr						p.A80T	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		3	321	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	80					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.238G>A	CCDS4518.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.11	1.261060	0.23051	4.54E-4	2.33E-4	ENSG00000197977	ENST00000354666	T	0.24723	1.84	5.63	-2.46	0.06461	.	0.840462	0.10564	N	0.659995	T	0.04363	0.0120	L	0.33792	1.035	0.09310	N	1	B	0.24132	0.098	B	0.26202	0.067	T	0.41502	-0.9505	10	0.25106	T	0.35	-1.5827	0.4305	0.00470	0.2462:0.2147:0.2851:0.254	.	80	Q9NXB9	ELOV2_HUMAN	T	80	ENSP00000346693:A80T	ENSP00000346693:A80T	A	-	1	0	ELOVL2	11113608	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.166000	0.09954	-0.215000	0.10063	-0.136000	0.14681	GCG		0.438	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			17	48	0	0	0	1	0	17	48					T	11005622	C	T	11005622	3	4	472	1	0	0	0	0	1	0	0	0	5074	768	27	1	676	1	ELOVL2	6	11005622	Missense_Mutation	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	8326020	11005622	160109445	14	38805											
TRERF1	55809	broad.mit.edu	37	chr6	42210985	42210985	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttagcagcttcactcaCcacacaatcgtcgatgattt	5	13	2	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:42210985C>T	ENST00000372922.4	-	15	3422		c.e15+1		TRERF1_ENST00000541110.1_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						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)			GCTTCACTCACCACACAATCG	0.542																																						ENST00000541110.1																			0				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						c.e15+1		transcriptional regulating factor 1							189	149	162					6																	42210985		2203	4300	6503	SO:0001630	splice_region_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42210985C>T	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.2859+1G>A	6.37:g.42210985C>T						TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site				Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		15	3488	-	Colorectal(47;0.196)							Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Splice_Site	SNP	ENST00000372922.4	37		CCDS4867.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.869830	0.51588	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	.	.	.	5.86	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0501	0.71862	0.0:0.9313:0.0:0.0687	.	.	.	.	.	-1	.	.	.	-	.	.	TRERF1	42318963	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	4.959000	0.63666	1.633000	0.50488	0.651000	0.88453	.		0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	Intron	25	61	0	0	0	1	0	25	61					T	42210985	C	T	42210985	5	4	472	1	0	0	0	0	0	0	1	0	16472	521	18	2	758	2	TRERF1	6	42210985	Splice_Site	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	31205363	42210985	128904082	15	38806											
ROS1	6098	broad.mit.edu	37	chr6	117704543	117704543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttccccatttagtctggtGctttccactgaatagagtgt	8	10	1	2			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:117704543G>T	ENST00000368508.3	-	16	2631	c.2433C>A	c.(2431-2433)agC>agA	p.S811R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S806R	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	811					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)		TTAGTCTGGTGCTTTCCACTG	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(2431-2433)agC>agA		c-ros oncogene 1 , receptor tyrosine kinase							220	204	210					6																	117704543		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704543G>T	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.2433C>A	6.37:g.117704543G>T	ENSP00000357494:p.Ser811Arg					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S806R	p.S811R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2631	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	811					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2433C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177509	0.57692	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.89123	-2.47;-2.47	4.76	2.98	0.34508	.	0.000000	0.64402	D	0.000001	T	0.82181	0.4981	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.83080	-0.0138	10	0.51188	T	0.08	.	8.4185	0.32685	0.257:0.0:0.743:0.0	.	811	P08922	ROS1_HUMAN	R	811;806	ENSP00000357494:S811R;ENSP00000357493:S806R	ENSP00000357493:S806R	S	-	3	2	ROS1	117811236	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.288000	0.18939	0.555000	0.29079	0.655000	0.94253	AGC		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	135	1	0	0.00024832	1	0.00024832	4	135					T	117704543	G	T	117704543	3	4	472	1	0	0	0	0	1	0	0	0	13531	1310	46	4	4722	4	ROS1	6	117704543	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	75493558	117704543	53410524	16	38807											
ABCB5	340273	broad.mit.edu	37	chr7	20721141	20721141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtaggcgagcaaaggtcGgactacaatcgtggtagcac	13	9	1	0	rs147800155		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:20721141G>A	ENST00000404938.2	+	15	2373	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	574	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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						AGCAAAGGTCGGACTACAATC	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20895	0.0		0.0	False		,,,				2504	0.0					ENST00000404938.2																			0				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						c.(1720-1722)cGg>cAg		ATP-binding cassette, sub-family B (MDR/TAP), member 5		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	125	112	117		1721,386	4.7	1	7	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ABCB5	NM_001163941.1,NM_178559.5	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	574/1258,129/813	20721141	1,13005	2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721141G>A	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.1721G>A	7.37:g.20721141G>A	ENSP00000384881:p.Arg574Gln					ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	p.R574Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			15	2373	+			129			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1721G>A	CCDS55090.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.190878	0.78789	0.0	1.16E-4	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.84873	-1.91;-1.91	4.67	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.50627	D	0.000120	D	0.89181	0.6642	L	0.52126	1.63	0.51233	D	0.999912	D;D	0.89917	1.0;0.999	D;P	0.63793	0.918;0.869	D	0.89760	0.3946	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	574;129	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Q	574;129	ENSP00000384881:R574Q;ENSP00000258738:R129Q	ENSP00000258738:R129Q	R	+	2	0	ABCB5	20687666	1.000000	0.71417	0.996000	0.52242	0.500000	0.33767	6.012000	0.70767	2.882000	0.98803	0.655000	0.94253	CGG		0.413	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		19	45	0	0	0	1	0	19	45					A	20721141	G	A	20721141	3	1	472	1	0	0	0	0	1	0	0	0	44	1116	39	1	1816	1	ABCB5	7	20721141	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		20721141	138417522	17	38808											
PTPN12	5782	broad.mit.edu	37	chr7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagttcagatctaaatgtcGgtgatacttcccagaattct	7	8	3	3			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488					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						TCTAAATGTCGGTGATACTTC	0.383																																						ENST00000248594.6																			0				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						c.(1462-1464)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 12							70	69	69					7																	77256458		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256458G>A		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.1462G>A	7.37:g.77256458G>A	ENSP00000248594:p.Gly488Ser					PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	p.G488S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1734	+			488					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1462G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	g	0.064	-1.216375	0.01542	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.05925	3.96;3.37;3.37	5.92	0.738	0.18319	.	0.610150	0.17747	N	0.163343	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48536	-0.9027	10	0.10377	T	0.69	.	8.9549	0.35812	0.1963:0.192:0.6117:0.0	.	488	Q05209	PTN12_HUMAN	S	488;369;369;358	ENSP00000248594:G488S;ENSP00000392429:G369S;ENSP00000397991:G358S	ENSP00000248594:G488S	G	+	1	0	PTPN12	77094394	0.014000	0.17966	0.000000	0.03702	0.227000	0.25037	1.413000	0.34725	-0.342000	0.08363	-1.972000	0.00464	GGT		0.383	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			21	45	0	0	0	1	0	21	45					A	77256458	G	A	77256458	3	1	472	1	0	0	0	0	1	0	0	0	12781	1116	39	1	1512	1	PTPN12	7	77256458	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	56535317	77256458	81882205	18	38809											
PRSS3	5646	broad.mit.edu	37	chr9	33797829	33797829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccctgcccatcagccGcatccaggtgagactgggag	13	15	1	1	rs138654302		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:33797829G>A	ENST00000361005.5	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(373-375)cGc>cAc		protease, serine, 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109	100	103		245,182,203,374	-1	0.9	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PRSS3	NM_001197097.2,NM_001197098.1,NM_002771.3,NM_007343.3	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	82/262,61/241,68/248,125/305	33797829	2,13004	2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33797829G>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.374G>A	9.37:g.33797829G>A	ENSP00000354280:p.Arg125His					RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H	p.R125H	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	374	+			125			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.374G>A	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	8.689	0.906916	0.17833	2.27E-4	1.16E-4	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	3.38	-1.0	0.10196	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	N	0.000021	T	0.80210	0.4581	L	0.35644	1.08	0.39352	D	0.965773	B;B;B	0.21520	0.006;0.057;0.006	B;B;B	0.20184	0.009;0.028;0.007	T	0.66532	-0.5900	10	0.40728	T	0.16	.	8.2506	0.31715	0.4318:0.0:0.5682:0.0	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	H	125;80;82;61;68	ENSP00000354280:R125H;ENSP00000401249:R80H;ENSP00000340889:R82H;ENSP00000401828:R61H;ENSP00000368715:R68H	ENSP00000340889:R82H	R	+	2	0	PRSS3	33787829	0.962000	0.33011	0.872000	0.34217	0.074000	0.17049	2.182000	0.42556	-0.172000	0.10779	-0.671000	0.03813	CGC		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		4	85	0	0	0	1	0	4	85					A	33797829	G	A	33797829	3	1	472	1	0	0	0	0	1	0	0	0	12622	1087	38	1	428	1	PRSS3	9	33797829	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		33797829	107415602	19	38810											
OR1L4	254973	broad.mit.edu	37	chr9	125486633	125486633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctctatggccatcgAccggctggtggccatctgca	13	14	2	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:125486633A>G	ENST00000259466.1	+	1	365	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	122						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(3)|lung(13)|prostate(1)|skin(1)	20						ATGGCCATCGACCGGCTGGTG	0.498																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(364-366)gAc>gGc		olfactory receptor, family 1, subfamily L, member 4							122	106	111					9																	125486633		2203	4297	6500	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486633A>G		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.365A>G	9.37:g.125486633A>G	ENSP00000259466:p.Asp122Gly						p.D122G	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	365	+			122					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.365A>G	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.944477	0.73672	.	.	ENSG00000136939	ENST00000259466	T	0.18174	2.23	4.01	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.50956	0.1646	H	0.94964	3.605	0.51233	D	0.999912	D	0.76494	0.999	D	0.81914	0.995	T	0.64723	-0.6340	10	0.87932	D	0	-23.0389	12.0998	0.53776	1.0:0.0:0.0:0.0	.	122	Q8NGR5	OR1L4_HUMAN	G	122	ENSP00000259466:D122G	ENSP00000259466:D122G	D	+	2	0	OR1L4	124526454	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.055000	0.93873	1.690000	0.51089	0.248000	0.18094	GAC		0.498	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			57	95	0	0	0	1	0	57	95					G	125486633	A	G	125486633	3	3	472	1	0	0	0	0	1	0	0	0	10965	275	10	3	367	3	OR1L4	9	125486633	Missense_Mutation	SNP	A	TCGA-TM-A84L-01A-11D-A36O-08	91688804	125486633	15726798	20	38811											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392085	21392086	+	Frame_Shift_Ins	INS	-	-	T													aaataaaaataaacattttgINStcccttctgctggggcagat					rs375293385		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:21392085_21392086insT	ENST00000256958.2	+	15	2134_2135	c.2038_2039insT	c.(2038-2040)gtcfs	p.V680fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	680					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|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)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAAACATTTTGTCCCTTCTGCT	0.351																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2038-2040)cccfs		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)																																			SO:0001589	frameshift_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392085_21392086insT		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.2039dupT	12.37:g.21392086_21392086dupT	ENSP00000256958:p.Val680fs						p.P680fs	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			15	2134_2135	+			680					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Frame_Shift_Ins	INS	ENST00000256958.2	37	c.2038_2039insT	CCDS8685.1																																																																																				0.351	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		29	73						29	73	---	---	---	---	T	21392086	-	T	21392085	7	5	472	1	0	1	1	0	0	0	0	0	14723	1377	48	0	2092	0	SLCO1B1	12	21392085	Frame_Shift_Ins	INS	-	TCGA-TM-A84L-01A-11D-A36O-08		21392085	112459810	21	38812											
MLL2	8085	broad.mit.edu	37	chr12	49442512	49442514	+	In_Frame_Del	DEL	TCC	TCC	-													gcatggtgtcatcatcttctTcctcctcctccttactggga							TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:49442512_49442514delTCC	ENST00000301067.7	-	13	4058_4060	c.4059_4061delGGA	c.(4057-4062)gaggaa>gaa	p.1353_1354EE>E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1353	Poly-Glu.				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)										ATCATCTTCTTCCTCCTCCTCCT	0.478																																						ENST00000301067.7																			0											c.(4057-4062)gaa>ga		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49442512_49442514delTCC	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.4059_4061delGGA	12.37:g.49442521_49442523delTCC	ENSP00000301067:p.Glu1355del						p.EE1353del	NM_003482.3	NP_003473.3					13	4058_4060	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.4059_4061delGGA	CCDS44873.1																																																																																				0.478	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	307						7	307	---	---	---	---	-	49442514	TCC	-	49442512	7	5	472	1	0	1	0	1	0	0	0	0	9621	1783	62	0	12720	0	MLL2	12	49442512	In_Frame_Del	DEL	TCC	TCGA-TM-A84L-01A-11D-A36O-08	28050427	49442512	84409383	22	38813											
RBL2	5934	broad.mit.edu	37	chr16	53504686	53504686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagcagctgtccgccttcGggatctctgtgccaaactag	10	12	1	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:53504686G>A	ENST00000262133.6	+	17	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	852	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R852L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCGCCTTCGGGATCTCTGT	0.383																																						ENST00000262133.6																			1	Substitution - Missense(1)	p.R852L(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2554-2556)cGg>cAg		retinoblastoma-like 2 (p130)							127	136	133					16																	53504686		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504686G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2555G>A	16.37:g.53504686G>A	ENSP00000262133:p.Arg852Gln					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.R852Q	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			17	2692	+			852			Domain B.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2555G>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219707	0.39201	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91351	-2.83	5.98	5.98	0.97165	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.052233	0.64402	D	0.000001	D	0.89483	0.6728	N	0.25647	0.755	0.80722	D	1	D;D	0.71674	0.975;0.998	P;P	0.57548	0.607;0.823	D	0.87100	0.2178	10	0.27785	T	0.31	-14.6339	13.3011	0.60326	0.0725:0.0:0.9275:0.0	.	562;852	E9PG04;Q08999	.;RBL2_HUMAN	Q	852;562	ENSP00000262133:R852Q	ENSP00000262133:R852Q	R	+	2	0	RBL2	52062187	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.787000	0.85759	2.835000	0.97688	0.650000	0.86243	CGG		0.383	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		28	119	0	0	0	1	0	28	119					A	53504686	G	A	53504686	3	1	472	1	0	0	0	0	1	0	0	0	13110	1116	39	1	2621	1	RBL2	16	53504686	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		53504686	36850067	23	38814											
TP53	7157	broad.mit.edu	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagggcaccaccacactaTgtcgaaaagtgtttctgtca	8	11	2	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R	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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(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						c.(640-642)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							127	114	119					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578208T>C	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.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	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)				TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	773	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	18	0	0	0	1	0	11	18					C	7578208	T	C	7578208	3	2	472	1	0	0	0	0	1	0	0	0	16378	1464	51	3	653	3	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		7578208	73617002	24	38815			1	49		2	2	43	N	T	4.205778e-05
TP53	7157	broad.mit.edu	37	chr17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-													ccaaatactccacacgcaaaTttccttccactcggataaga							TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578250delT	ENST00000269305.4	-	6	788	c.599delA	c.(598-600)aatfs	p.N200fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs	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	200	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (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.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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)	CACACGCAAATTTCCTTCCAC	0.547		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		27	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(6)|Substitution - Missense(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(1)	biliary_tract(5)|central_nervous_system(4)|bone(4)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|skin(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(1)|pancreas(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						c.(598-600)atfs	Other conserved DNA damage response genes	tumor protein p53							119	107	111					17																	7578250		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578250delT	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.599delA	17.37:g.7578250delT	ENSP00000269305:p.Asn200fs	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)				TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs	p.N200fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	731	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	200		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.599delA	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	30						11	30	---	---	---	---	-	7578250	T	-	7578250	7	5	472	1	0	1	0	1	0	0	0	0	16378	1493	52	0	695	0	TP53	17	7578250	Frame_Shift_Del	DEL	T	TCGA-TM-A84L-01A-11D-A36O-08	42	7578250	73616960	25	38816			1	49		2	2	43	N	T	4.205778e-05
SP2	6668	broad.mit.edu	37	chr17	45994066	45994066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtgggggcggcaatgTgacgctcactctgcccgtca	15	12	3	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:45994066T>C	ENST00000376741.4	+	3	766	c.629T>C	c.(628-630)gTg>gCg	p.V210A	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	210					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGCGGCAATGTGACGCTCACT	0.627																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(628-630)gTg>gCg		Sp2 transcription factor							85	76	79					17																	45994066		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994066T>C		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.629T>C	17.37:g.45994066T>C	ENSP00000365931:p.Val210Ala					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.V210A	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	766	+			210					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.629T>C	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370332	0.42003	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.11821	2.74	5.39	5.39	0.77823	.	0.205041	0.33253	N	0.005113	T	0.17109	0.0411	L	0.58101	1.795	0.31223	N	0.697197	B	0.12013	0.005	B	0.10450	0.005	T	0.03306	-1.1050	10	0.45353	T	0.12	.	14.5302	0.67920	0.0:0.0:0.0:1.0	.	210	Q02086	SP2_HUMAN	A	210;203	ENSP00000365931:V210A	ENSP00000316942:V203A	V	+	2	0	SP2	43349065	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.653000	0.54446	2.267000	0.75376	0.383000	0.25322	GTG		0.627	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		25	39	0	0	0	1	0	25	39					C	45994066	T	C	45994066	3	2	472	1	0	0	0	0	1	0	0	0	14964	1696	59	3	639	3	SP2	17	45994066	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08	38415816	45994066	35201144	26	38817											
PDE6G	5148	broad.mit.edu	37	chr17	79620303	79620303	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggccaccctggtggctgaCcggaactcagccttgggcgg	15	15	1	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:79620303C>G	ENST00000331056.5	-	2	176	c.33G>C	c.(31-33)cgG>cgC	p.R11R	PDE6G_ENST00000571004.1_Silent_p.R11R|PDE6G_ENST00000573076.1_Silent_p.R61R|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Silent_p.R11R	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	11					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|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)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TGGTGGCTGACCGGAACTCAG	0.637																																					GBM(189;38 2147 16440 40945 46567)	ENST00000573076.1																			0				lung(2)|urinary_tract(1)	3						c.(181-183)cgG>cgC		phosphodiesterase 6G, cGMP-specific, rod, gamma							44	48	46					17																	79620303		2203	4300	6503	SO:0001819	synonymous_variant	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620303C>G		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"Phosphodiesterases"	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.33G>C	17.37:g.79620303C>G						PDE6G_ENST00000571224.1_Silent_p.R11R|PDE6G_ENST00000571004.1_Silent_p.R11R|PDE6G_ENST00000331056.5_Silent_p.R11R|PDE6G_ENST00000574777.1_Intron	p.R61R			P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	658	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		11					Q3KP63|Q7Z3U8	Silent	SNP	ENST00000331056.5	37	c.183G>C	CCDS11783.1																																																																																				0.637	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			30	66	0	0	0	1	0	30	66					G	79620303	C	G	79620303	2	3	472	1	0	0	0	0	0	0	0	1	11649	494	18	4		4	PDE6G	17	79620303	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	33626237	79620303	1574907	27	38818											
DSG2	1829	broad.mit.edu	37	chr18	29099814	29099814	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctaaacatcctcatTtagtgcggcaaaagcgcgcc	8	13	1	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr18:29099814T>G	ENST00000261590.8	+	3	339	c.130T>G	c.(130-132)Tta>Gta	p.L44V	DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	44					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)			ACATCCTCATTTAGTGCGGCA	0.423																																						ENST00000261590.8																			0				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						c.(130-132)Tta>Gta		desmoglein 2							69	70	70					18																	29099814		1860	4098	5958	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099814T>G	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.130T>G	18.37:g.29099814T>G	ENSP00000261590:p.Leu44Val					DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	339	+			44					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.130T>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339375	0.24339	.	.	ENSG00000046604	ENST00000261590	T	0.63913	-0.07	4.79	-0.294	0.12831	.	0.495622	0.12215	U	0.488945	T	0.47544	0.1451	L	0.51853	1.615	0.09310	N	1	P	0.37781	0.608	B	0.32980	0.156	T	0.26052	-1.0114	10	0.22706	T	0.39	.	7.4976	0.27498	0.0:0.3645:0.0:0.6355	.	44	Q14126	DSG2_HUMAN	V	44	ENSP00000261590:L44V	ENSP00000261590:L44V	L	+	1	2	DSG2	27353812	0.000000	0.05858	0.001000	0.08648	0.255000	0.26057	-0.303000	0.08210	-0.215000	0.10063	0.459000	0.35465	TTA		0.423	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		17	40	0	0	0	1	0	17	40					G	29099814	T	G	29099814	3	3	472	1	0	0	0	0	1	0	0	0	4777	1838	64	5	140	5	DSG2	18	29099814	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		29099814	48977434	28	38819											
LRP3	4037	broad.mit.edu	37	chr19	33698349	33698349	+	Frame_Shift_Del	DEL	C	C	-													tgctcagcccaggacccgcaCccccaggtctccactgccag							TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr19:33698349delC	ENST00000253193.7	+	7	2383	c.2181delC	c.(2179-2181)cacfs	p.H727fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	727					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGGACCCGCACCCCCAGGTCT	0.701																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(2179-2181)cafs		low density lipoprotein receptor-related protein 3							9	9	9					19																	33698349		2168	4254	6422	SO:0001589	frameshift_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698349delC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2181delC	19.37:g.33698349delC	ENSP00000253193:p.His727fs						p.H727fs	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			7	2383	+	Esophageal squamous(110;0.137)		727					B3KQD6|B4DKF2	Frame_Shift_Del	DEL	ENST00000253193.7	37	c.2181delC	CCDS12430.1																																																																																				0.701	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			2	4						2	4	---	---	---	---	-	33698349	C	-	33698349	7	5	472	1	0	1	0	1	0	0	0	0	8958	506	18	0	2207	0	LRP3	19	33698349	Frame_Shift_Del	DEL	C	TCGA-TM-A84L-01A-11D-A36O-08		33698349	25430634	29	38820											
APOBEC3F	200316	broad.mit.edu	37	chr22	39448228	39448228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggtggccgagttcctGgccaggcacagcaacgtgaa	17	10	0	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr22:39448228G>A	ENST00000308521.5	+	6	1230	c.873G>A	c.(871-873)ctG>ctA	p.L291L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	291					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|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)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCGAGTTCCTGGCCAGGCACA	0.567																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(871-873)ctG>ctA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							55	62	59					22																	39448228		2203	4296	6499	SO:0001819	synonymous_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39448228G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.873G>A	22.37:g.39448228G>A						APOBEC3G_ENST00000452957.2_Intron	p.L291L	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			6	1230	+	Melanoma(58;0.04)		299					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	c.873G>A	CCDS33648.1																																																																																				0.567	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		30	67	0	0	0	1	0	30	67					A	39448228	G	A	39448228	2	1	472	1	0	0	0	0	0	0	0	1	793	1335	47	2		2	APOBEC3F	22	39448228	Silent	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		39448228	11856338	30	38821											
ATRX	546	broad.mit.edu	37	chrX	76938326	76938326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactcagactgggtttgtcGtttctttttagaaattatag	9	5	2	3			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chrX:76938326G>A	ENST00000373344.5	-	9	2636	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	808					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						tGGGTTTGTCGTTTCTTTTTA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2422-2424)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						96	104	101					X																	76938326		2202	4294	6496	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938326G>A	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.2422C>T	X.37:g.76938326G>A	ENSP00000362441:p.Arg808*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*	p.R808*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2636	-			808					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2422C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	41	8.693234	0.98916	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.077314	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1692	14.4194	0.67173	0.0:0.1432:0.8568:0.0	.	.	.	.	X	808;770;735	.	ENSP00000362441:R808X	R	-	1	2	ATRX	76824982	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.064000	0.64338	2.399000	0.81585	0.466000	0.42574	CGA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		86	44	0	0	0	1	0	86	44					A	76938326	G	A	76938326	4	1	472	1	0	0	0	0	0	1	0	0	1208	1153	40	1	5164	1	ATRX	23	76938326	Nonsense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		76938326	78332234	31	38822											
EIF4G3	8672	broad.mit.edu	37	chr1	21205843	21205843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatcgacacatgtttgcGtaagccacagagaaactggg	11	9	0	2	rs542108090		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:21205843G>A	ENST00000264211.8	-	14	2621	c.2427C>T	c.(2425-2427)taC>taT	p.Y809Y	EIF4G3_ENST00000602326.1_Silent_p.Y815Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				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)		ACATGTTTGCGTAAGCCACAG	0.443																																						ENST00000602326.1																			0				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						c.(2443-2445)taC>taT		eukaryotic translation initiation factor 4 gamma, 3							169	167	167					1																	21205843		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205843G>A	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.2427C>T	1.37:g.21205843G>A						EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y	p.Y815Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		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)	18	3028	-		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)	809			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.2445C>T	CCDS214.1																																																																																				0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	80	0	0	0	1	0	4	80					A	21205843	G	A	21205843	2	1	473	1	0	0	0	0	0	0	0	1	5038	1140	40	1		1	EIF4G3	1	21205843	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		21205843	228044778	1	38823											
ARID1A	8289	broad.mit.edu	37	chr1	27097676	27097676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcacatcaagcagtgctGccagctccttgaaaaagcag	11	11	1	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:27097676G>A	ENST00000324856.7	+	12	3636	c.3265G>A	c.(3265-3267)Gcc>Acc	p.A1089T	ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1089	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)		AAGCAGTGCTGCCAGCTCCTT	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(3265-3267)Gcc>Acc		AT rich interactive domain 1A (SWI-like)							92	82	85					1																	27097676		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097676G>A	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.3265G>A	1.37:g.27097676G>A	ENSP00000320485:p.Ala1089Thr					ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T	p.A1089T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	12	3636	+		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)	1089			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3265G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268770	0.95429	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.65916	-0.18;-0.18;-0.18	5.43	5.43	0.79202	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.76574	2.34	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	T	0.81510	-0.0900	10	0.87932	D	0	-9.5637	19.4303	0.94760	0.0:0.0:1.0:0.0	.	1089;1089;743	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	T	1089;1089;706	ENSP00000320485:A1089T;ENSP00000387636:A1089T;ENSP00000363267:A706T	ENSP00000320485:A1089T	A	+	1	0	ARID1A	26970263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.578000	0.98200	2.830000	0.97506	0.655000	0.94253	GCC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		12	6	0	0	0	1	0	12	6					A	27097676	G	A	27097676	3	1	473	1	0	0	0	0	1	0	0	0	913	1319	46	2	3311	2	ARID1A	1	27097676	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5891833	27097676	222152945	2	38824											
FUBP1	8880	broad.mit.edu	37	chr1	78432598	78432598	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgtattttgcatccagattCctgttgtatgcgtgagatct	9	8	1	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:78432598C>A	ENST00000370768.2	-	6	466	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E129*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	129	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCCAGATTCCTGTTGTATG	0.318			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(385-387)Gaa>Taa		far upstream element (FUSE) binding protein 1							70	67	68					1																	78432598		2203	4299	6502	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432598C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.385G>T	1.37:g.78432598C>A	ENSP00000359804:p.Glu129*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E129*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*	p.E129*			Q96AE4	FUBP1_HUMAN			6	472	-			129			KH 1.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.385G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529030	0.96446	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-31.9552	19.6617	0.95876	0.0:1.0:0.0:0.0	.	.	.	.	X	128;129;129;128;150;149	.	ENSP00000294623:E128X	E	-	1	0	FUBP1	78205186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.717000	0.92951	0.655000	0.94253	GAA		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	3	1	0	6.94344e-10	1	7.38664e-10	15	3					A	78432598	C	A	78432598	4	1	473	1	0	0	0	0	0	1	0	0	6092	864	30	4	1609	4	FUBP1	1	78432598	Nonsense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	51334922	78432598	170818023	3	38825											
SEC22B	9554	broad.mit.edu	37	chr1	145109584	145109584	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgccttccctaagacGttggcttttgcctacctaga	9	12	0	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:145109584G>A	ENST00000453618.1	+	0	573							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TCCCTAAGACGTTGGCTTTTG	0.428																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							474	466	469					1																	145109584		2038	4191	6229			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109584G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109584G>A										O75396	SC22B_HUMAN			0	573	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.428	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		52	352	0	0	0	1	0	52	352					A	145109584	G	A	145109584	1	1	473	0	1	0	0	0	0	0	0	0	13989	1132	40	1		1	SEC22B	1	145109584	RNA	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	66676986	145109584	104141037	4	38826											
TNN	63923	broad.mit.edu	37	chr1	175106074	175106074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatttcttccaagtggcctCcagcaaggagcggtataagc	11	10	1	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:175106074C>T	ENST00000239462.4	+	17	3658	c.3545C>T	c.(3544-3546)tCc>tTc	p.S1182F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1182	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGTGGCCTCCAGCAAGGAG	0.483																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3544-3546)tCc>tTc		tenascin N							72	70	71					1																	175106074		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175106074C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3545C>T	1.37:g.175106074C>T	ENSP00000239462:p.Ser1182Phe						p.S1182F	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	17	3658	+		Breast(1374;0.000962)	1182			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3545C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243749	0.79912	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.83335	-1.71	5.37	5.37	0.77165	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.314820	0.36134	N	0.002774	D	0.93825	0.8025	H	0.94345	3.525	0.43953	D	0.996621	D	0.65815	0.995	D	0.73708	0.981	D	0.95103	0.8232	10	0.87932	D	0	.	19.0713	0.93138	0.0:1.0:0.0:0.0	.	1182	Q9UQP3	TENN_HUMAN	F	1182;1005	ENSP00000239462:S1182F	ENSP00000239462:S1182F	S	+	2	0	TNN	173372697	0.721000	0.28007	1.000000	0.80357	0.995000	0.86356	3.434000	0.52841	2.677000	0.91161	0.655000	0.94253	TCC		0.483	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	64	0	0	0	1	0	5	64					T	175106074	C	T	175106074	3	4	473	1	0	0	0	0	1	0	0	0	16320	855	30	2	3607	2	TNN	1	175106074	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	29996490	175106074	74144547	5	38827											
CAPN9	10753	broad.mit.edu	37	chr1	230898421	230898421	+	Frame_Shift_Del	DEL	T	T	-													ctggcagcacagtgagtggcTggacgtggtgatcgatgacc							TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:230898421delT	ENST00000271971.2	+	4	538	c.425delT	c.(424-426)ctgfs	p.L142fs	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs|CAPN9_ENST00000354537.1_Frame_Shift_Del_p.L142fs	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	142	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)				AGTGAGTGGCTGGACGTGGTG	0.547																																						ENST00000354537.1																			0				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						c.(424-426)cgfs		calpain 9							110	100	104					1																	230898421		2203	4300	6503	SO:0001589	frameshift_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230898421delT	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.425delT	1.37:g.230898421delT	ENSP00000271971:p.Leu142fs					CAPN9_ENST00000271971.2_Frame_Shift_Del_p.L142fs|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs	p.L142fs	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			4	507	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	142			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Frame_Shift_Del	DEL	ENST00000271971.2	37	c.425delT	CCDS1586.1																																																																																				0.547	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		39	43						39	43	---	---	---	---	-	230898421	T	-	230898421	7	5	473	1	0	1	0	1	0	0	0	0	2632	1580	55	0	439	0	CAPN9	1	230898421	Frame_Shift_Del	DEL	T	TCGA-TM-A84M-01A-11D-A36O-08	55792347	230898421	18352200	6	38828											
EDARADD	128178	broad.mit.edu	37	chr1	236645924	236645924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtggcccaagcgggagcGtggagacccctccaggcact	16	13	0	1	rs376731607		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:236645924G>A	ENST00000334232.4	+	6	790	c.623G>A	c.(622-624)cGt>cAt	p.R208H	EDARADD_ENST00000359362.5_Missense_Mutation_p.R198H	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	208					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)		p.R208L(1)		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)			AAGCGGGAGCGTGGAGACCCC	0.582																																						ENST00000359362.5																			1	Substitution - Missense(1)	p.R208L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12						c.(592-594)cGt>cAt		EDAR-associated death domain		G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	59	67	64		623,593	-2.7	0	1		64	1,8593		0,1,4296	no	missense,missense	EDARADD	NM_145861.2,NM_080738.3	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	208/216,198/206	236645924	1,12989	2198	4297	6495	SO:0001583	missense	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236645924G>A	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.623G>A	1.37:g.236645924G>A	ENSP00000335076:p.Arg208His					EDARADD_ENST00000334232.4_Missense_Mutation_p.R208H	p.R198H	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	807	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	208			Death.		A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	c.593G>A	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552764	0.27739	0.0	1.16E-4	ENSG00000186197	ENST00000334232;ENST00000359362	T;T	0.80566	-0.83;-1.39	5.44	-2.72	0.05968	.	1.250450	0.06442	N	0.726226	T	0.53077	0.1774	N	0.04043	-0.29	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.34329	-0.9833	9	.	.	.	.	1.7435	0.02957	0.3932:0.2239:0.2701:0.1128	.	198;208	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	H	208;198	ENSP00000335076:R208H;ENSP00000352320:R198H	.	R	+	2	0	EDARADD	234712547	0.000000	0.05858	0.000000	0.03702	0.646000	0.38490	0.081000	0.14823	-0.322000	0.08615	0.655000	0.94253	CGT		0.582	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		4	54	0	0	0	1	0	4	54					A	236645924	G	A	236645924	3	1	473	1	0	0	0	0	1	0	0	0	4906	1145	40	1	680	1	EDARADD	1	236645924	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5747503	236645924	12604697	7	38829											
APOB	338	broad.mit.edu	37	chr2	21237441	21237441	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ataaggaagactcccagatgCcttctgaagccatgagctca	9	11	2	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:21237441C>G	ENST00000233242.1	-	24	3848	c.3721G>C	c.(3721-3723)Gca>Cca	p.A1241P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1241					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)					CTCCCAGATGCCTTCTGAAGC	0.453																																						ENST00000233242.1																			0				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						c.(3721-3723)Gca>Cca		apolipoprotein B	Atorvastatin(DB01076)						103	99	100					2																	21237441		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21237441C>G	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.3721G>C	2.37:g.21237441C>G	ENSP00000233242:p.Ala1241Pro						p.A1241P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			24	3848	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1241					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.3721G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551810	0.13374	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00792	5.69	5.63	2.88	0.33553	.	0.476592	0.19249	N	0.118979	T	0.02012	0.0063	M	0.64997	1.995	0.19775	N	0.999956	D	0.57899	0.981	P	0.55161	0.77	T	0.46247	-0.9205	10	0.36615	T	0.2	.	9.2034	0.37272	0.0:0.6546:0.0:0.3454	.	1241	P04114	APOB_HUMAN	P	1241	ENSP00000233242:A1241P	ENSP00000233242:A1241P	A	-	1	0	APOB	21090946	0.652000	0.27349	0.000000	0.03702	0.118000	0.20060	0.050000	0.14120	0.430000	0.26230	0.655000	0.94253	GCA		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	58	0	0	0	1	0	4	58					G	21237441	C	G	21237441	3	3	473	1	0	0	0	0	1	0	0	0	785	739	26	4	9994	4	APOB	2	21237441	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		21237441	221961932	8	38830											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	42	0	0	0	1	0	42	42					T	209113112	C	T	209113112	3	4	473	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	187875671	209113112	34086261	9	38831											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527574	64527574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcagtgtggcataagtGgctgggttggtcctcattgg	15	7	2	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:64527574G>A	ENST00000498707.1	-	33	5479	c.5137C>T	c.(5137-5139)Cac>Tac	p.H1713Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1713	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCATAAGTGGCTGGGTTGG	0.443																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5137-5139)Cac>Tac		ADAM metallopeptidase with thrombospondin type 1 motif, 9							180	171	174					3																	64527574		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527574G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5137C>T	3.37:g.64527574G>A	ENSP00000418735:p.His1713Tyr					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	p.H1713Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	33	5479	-		Lung NSC(201;0.00682)	1713			TSP type-1 15.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5137C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532613	0.45073	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18174	2.23;2.23	5.7	2.71	0.32032	.	0.604873	0.17756	N	0.163078	T	0.13329	0.0323	L	0.28344	0.845	0.80722	D	1	B;B	0.21452	0.056;0.05	B;B	0.31191	0.125;0.125	T	0.08953	-1.0697	10	0.66056	D	0.02	.	8.6087	0.33789	0.0:0.1108:0.375:0.5142	.	1685;1713	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	Y	1685;1713	ENSP00000295903:H1685Y;ENSP00000418735:H1713Y	ENSP00000295903:H1685Y	H	-	1	0	ADAMTS9	64502614	0.422000	0.25473	1.000000	0.80357	0.995000	0.86356	0.705000	0.25675	1.397000	0.46682	0.591000	0.81541	CAC		0.443	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			50	68	0	0	0	1	0	50	68					A	64527574	G	A	64527574	3	1	473	1	0	0	0	0	1	0	0	0	273	1348	47	2	698	2	ADAMTS9	3	64527574	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		64527574	133494856	10	38832											
ATP6V1A	523	broad.mit.edu	37	chr3	113514767	113514767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatccagttacatctgCcactcttggtatcgttcagg	8	11	4	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:113514767C>T	ENST00000273398.3	+	11	1379	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	424					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)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GTTACATCTGCCACTCTTGGT	0.383																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1270-1272)gCc>gTc		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							156	144	148					3																	113514767		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113514767C>T	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1271C>T	3.37:g.113514767C>T	ENSP00000273398:p.Ala424Val					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	p.A424V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			11	1379	+			424					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.1271C>T	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433363	0.96150	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.79940	-1.32;-1.32	5.68	5.68	0.88126	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.93420	3.415	0.80722	D	1	D	0.62365	0.991	D	0.69479	0.964	D	0.93879	0.7169	10	0.87932	D	0	-21.419	19.7733	0.96382	0.0:1.0:0.0:0.0	.	424	P38606	VATA_HUMAN	V	141;424;391	ENSP00000273398:A424V;ENSP00000439874:A391V	ENSP00000273398:A424V	A	+	2	0	ATP6V1A	114997457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.252000	0.78309	2.676000	0.91093	0.561000	0.74099	GCC		0.383	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		18	38	0	0	0	1	0	18	38					T	113514767	C	T	113514767	3	4	473	1	0	0	0	0	1	0	0	0	1177	739	26	2	1309	2	ATP6V1A	3	113514767	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	48987193	113514767	84507663	11	38833											
DMP1	1758	broad.mit.edu	37	chr4	88583167	88583167	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggcctgggctctgaTgatcatcaatacatttatag	12	7	3	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:88583167T>A	ENST00000339673.6	+	6	336	c.237T>A	c.(235-237)gaT>gaA	p.D79E	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D63E|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	79					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGGGCTCTGATGATCATCAAT	0.468																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(235-237)gaT>gaA		dentin matrix acidic phosphoprotein 1							56	59	58					4																	88583167		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583167T>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.237T>A	4.37:g.88583167T>A	ENSP00000340935:p.Asp79Glu					RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D63E	p.D79E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	336	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	79					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.237T>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	T	9.561	1.118366	0.20877	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.58506	0.33;0.33	4.71	-0.359	0.12571	.	0.613158	0.14521	N	0.314473	T	0.46014	0.1371	L	0.46157	1.445	0.09310	N	1	P;P	0.41498	0.708;0.752	B;P	0.44772	0.331;0.46	T	0.34129	-0.9841	10	0.15952	T	0.53	-6.3175	4.1936	0.10433	0.1676:0.3909:0.0:0.4415	.	63;79	Q13316-2;Q13316	.;DMP1_HUMAN	E	79;63	ENSP00000340935:D79E;ENSP00000282479:D63E	ENSP00000282479:D63E	D	+	3	2	DMP1	88802191	0.026000	0.19158	0.000000	0.03702	0.003000	0.03518	0.239000	0.18023	-0.181000	0.10619	-0.475000	0.04921	GAT		0.468	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			31	30	0	0	0	1	0	31	30					A	88583167	T	A	88583167	3	1	473	1	0	0	0	0	1	0	0	0	4583	1461	51	5	255	5	DMP1	4	88583167	Missense_Mutation	SNP	T	TCGA-TM-A84M-01A-11D-A36O-08		88583167	102571109	12	38834											
C4orf21	55345	broad.mit.edu	37	chr4	113540554	113540554	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatttccagaattgacaggtGagcaaaaataattttcttca	6	6	2	3	rs563534997	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:113540554G>A	ENST00000505019.1	-	6	769	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		215						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)		ATTGACAGGTGAGCAAAAATA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		19105	0.0		0.0	False		,,,				2504	0.002					ENST00000505019.1																			0				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						c.(643-645)tCa>tTa		chromosome 4 open reading frame 21							46	49	48					4																	113540554		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113540554G>A																												ENST00000505019.1:c.644C>T	4.37:g.113540554G>A	ENSP00000424737:p.Ser215Leu					C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L	p.S215L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	769	-		Ovarian(17;0.156)	215					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.644C>T		.	.	.	.	.	.	.	.	.	.	G	15.00	2.703134	0.48412	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.84589	-1.87;1.66;1.21	4.9	2.87	0.33458	.	0.985279	0.08277	N	0.970474	T	0.82157	0.4976	M	0.67953	2.075	0.09310	N	1	B;B	0.17465	0.022;0.002	B;B	0.15052	0.005;0.012	T	0.67624	-0.5623	10	0.45353	T	0.12	-3.1225	5.1522	0.15015	0.2938:0.2277:0.4786:0.0	.	215;215	Q86YA3;G5EA02	CD021_HUMAN;.	L	215;215;184	ENSP00000424737:S215L;ENSP00000309095:S215L;ENSP00000390505:S184L	ENSP00000309095:S215L	S	-	2	0	C4orf21	113760003	0.001000	0.12720	0.002000	0.10522	0.086000	0.17979	0.655000	0.24933	0.298000	0.22638	0.591000	0.81541	TCA		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			7	79	0	0	0	1	0	7	79					A	113540554	G	A	113540554	3	1	473	1	0	0	0	0	1	0	0	0	2254	1294	45	2	5762	2	C4orf21	4	113540554	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	24957387	113540554	77613722	13	38835											
NEK1	4750	broad.mit.edu	37	chr4	170476982	170476982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccataaggaaatcctggaCgaactccaggcagaattcct	8	13	0	1	rs201793759		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:170476982C>T	ENST00000439128.2	-	17	2091	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	484					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R484H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATCCTGGACGAACTCCAGG	0.413																																						ENST00000439128.2																			1	Substitution - Missense(1)	p.R484H(1)	ovary(1)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1450-1452)cGt>cAt		NIMA-related kinase 1		C	HIS/ARG,,,,HIS/ARG	1,3709		0,1,1854	103	98	100		1451,,,,1451	1.7	1	4		100	0,8188		0,0,4094	yes	missense,intron,intron,intron,missense	NEK1	NM_001199397.1,NM_001199398.1,NM_001199399.1,NM_001199400.1,NM_012224.2	29,,,,29	0,1,5948	TT,TC,CC		0.0,0.027,0.0084	benign,,,,benign	484/1287,,,,484/1259	170476982	1,11897	1855	4094	5949	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170476982C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1451G>A	4.37:g.170476982C>T	ENSP00000408020:p.Arg484His					NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000510533.1_Intron	p.R484H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	17	2091	-		Prostate(90;0.00601)|Renal(120;0.0183)	484					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1451G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392102	0.25118	2.7E-4	0.0	ENSG00000137601	ENST00000439128;ENST00000507142	T;T	0.69306	-0.36;-0.39	5.67	1.72	0.24424	.	0.759582	0.11965	N	0.512390	T	0.45498	0.1345	N	0.22421	0.69	0.80722	D	1	B;B;B	0.13594	0.001;0.008;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.16600	-1.0397	10	0.09084	T	0.74	.	7.1435	0.25570	0.1256:0.6156:0.0:0.2588	.	484;484;484	Q96PY6-5;Q96PY6-3;Q96PY6	.;.;NEK1_HUMAN	H	484	ENSP00000408020:R484H;ENSP00000424757:R484H	ENSP00000408020:R484H	R	-	2	0	NEK1	170713557	0.998000	0.40836	0.982000	0.44146	0.990000	0.78478	0.459000	0.21908	0.001000	0.14605	0.591000	0.81541	CGT		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			7	63	0	0	0	1	0	7	63					T	170476982	C	T	170476982	3	4	473	1	0	0	0	0	1	0	0	0	10321	536	19	1	2397	1	NEK1	4	170476982	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	56936428	170476982	20677294	14	38836											
ARHGEF37	389337	broad.mit.edu	37	chr5	148989208	148989208	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctactggtggacacgtaccgGaaggagccggagctgcagcg	16	11	0	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:148989208G>A	ENST00000333677.6	+	4	571	c.408G>A	c.(406-408)cgG>cgA	p.R136R	RNU6-588P_ENST00000410281.1_RNA	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	136	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACACGTACCGGAAGGAGCCGG	0.572																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(406-408)cgG>cgA		Rho guanine nucleotide exchange factor (GEF) 37							70	77	75					5																	148989208		2188	4277	6465	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148989208G>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.408G>A	5.37:g.148989208G>A							p.R136R	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			4	571	+			136			DH.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.408G>A	CCDS43385.1																																																																																				0.572	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		23	26	0	0	0	1	0	23	26					A	148989208	G	A	148989208	2	1	473	1	0	0	0	0	0	0	0	1	906	1161	41	2		2	ARHGEF37	5	148989208	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		148989208	31926052	15	38837											
RUFY1	80230	broad.mit.edu	37	chr5	179028901	179028901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcattttaggagttgcgGgagcttcaggacgagaaggc	15	6	2	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:179028901G>A	ENST00000319449.4	+	15	1782	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	RUFY1_ENST00000437570.2_Silent_p.R482R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Silent_p.R482R|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	590					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGCGGGAGCTTCAGG	0.478										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1768-1770)cgG>cgA		RUN and FYVE domain containing 1							113	114	114					5																	179028901		2203	4300	6503	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179028901G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1770G>A	5.37:g.179028901G>A		HNSCC(44;0.11)				RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Silent_p.R482R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Silent_p.R482R	p.R590R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	1782	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	590					Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.1770G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	G	4.458	0.084770	0.08583	.	.	ENSG00000176783	ENST00000502434	.	.	.	4.8	2.97	0.34412	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	-16.7023	3.508	0.07698	0.2143:0.0:0.4492:0.3365	.	.	.	.	R	268	.	.	G	+	1	0	RUFY1	178961507	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	1.081000	0.30791	0.535000	0.28714	0.549000	0.68633	GGA		0.478	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		37	62	0	0	0	1	0	37	62					A	179028901	G	A	179028901	2	1	473	1	0	0	0	0	0	0	0	1	13738	1219	43	2		2	RUFY1	5	179028901	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	30039693	179028901	1886359	16	38838											
USP49	25862	broad.mit.edu	37	chr6	41773595	41773595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatggcgaagggcgacActagggcccacttcccggac	15	13	0	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:41773595A>G	ENST00000394253.3	-	3	1456	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A	USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A|USP49_ENST00000373006.1_Missense_Mutation_p.V376A			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	376	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGGGCGACACTAGGGCCCA	0.597																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1126-1128)gTg>gCg		ubiquitin specific peptidase 49							65	61	63					6																	41773595		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773595A>G	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	20078	protein-coding gene	gene with protein product			"ubiquitin specific protease 49"			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1127T>C	6.37:g.41773595A>G	ENSP00000377797:p.Val376Ala					USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373006.1_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A	p.V376A			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1456	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		376					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1127T>C		.	.	.	.	.	.	.	.	.	.	A	21.9	4.213844	0.79352	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.86028	2.79	0.58432	D	0.999999	P	0.50710	0.938	P	0.55161	0.77	T	0.60429	-0.7265	10	0.87932	D	0	-15.9388	15.2094	0.73206	1.0:0.0:0.0:0.0	.	376	Q70CQ1-2	.	A	376	ENSP00000377797:V376A;ENSP00000362101:V376A;ENSP00000362100:V376A;ENSP00000362097:V376A;ENSP00000297229:V376A	ENSP00000297229:V376A	V	-	2	0	USP49	41881573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.126000	0.65437	0.533000	0.62120	GTG		0.597	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		29	35	0	0	0	1	0	29	35					G	41773595	A	G	41773595	3	3	473	1	0	0	0	0	1	0	0	0	17077	159	6	3	811	3	USP49	6	41773595	Missense_Mutation	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08		41773595	129341472	17	38839											
GUSB	2990	broad.mit.edu	37	chr7	65439637	65439637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgttggcaccaagccagcGaagcaggttgaagtccttca	12	11	1	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:65439637G>A	ENST00000304895.4	-	7	1250	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.R228C|GUSB_ENST00000345660.6_Missense_Mutation_p.R323C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	374			R -> C (in MPS7). {ECO:0000269|PubMed:8644704}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAAGCCAGCGAAGCAGGTTG	0.572																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20	GRCh37	CM960798	GUSB	M		c.(1120-1122)Cgc>Tgc		glucuronidase, beta							92	85	87					7																	65439637		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65439637G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1120C>T	7.37:g.65439637G>A	ENSP00000302728:p.Arg374Cys					GUSB_ENST00000421103.1_Missense_Mutation_p.R228C|GUSB_ENST00000345660.6_Missense_Mutation_p.R323C	p.R374C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			7	1250	-			374		R -> C (in MPS7).			B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1120C>T	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754898	0.49362	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95724	-3.79;-3.79;-3.79	4.48	4.48	0.54585	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.265416	0.38720	N	0.001584	D	0.93044	0.7786	M	0.75264	2.295	0.53005	D	0.999961	P;P	0.50819	0.939;0.475	B;B	0.35470	0.203;0.08	D	0.93618	0.6945	10	0.87932	D	0	.	11.95	0.52950	0.0:0.0:0.8267:0.1733	.	228;374	E9PCV0;P08236	.;BGLR_HUMAN	C	374;228;323	ENSP00000302728:R374C;ENSP00000391390:R228C;ENSP00000340734:R323C	ENSP00000302728:R374C	R	-	1	0	GUSB	65077072	0.992000	0.36948	0.983000	0.44433	0.941000	0.58515	2.967000	0.49216	2.498000	0.84270	0.556000	0.70494	CGC		0.572	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		44	46	0	0	0	1	0	44	46					A	65439637	G	A	65439637	3	1	473	1	0	0	0	0	1	0	0	0	6902	1058	37	1	859	1	GUSB	7	65439637	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		65439637	93699026	18	38840											
LUC7L2	100996928	broad.mit.edu	37	chr7	139083362	139083362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagaatggatcttggagaAtgtctgaaagtccatgacct	11	7	2	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:139083362A>G	ENST00000354926.4	+	3	528	c.174A>G	c.(172-174)gaA>gaG	p.E58E	C7orf55-LUC7L2_ENST00000263545.6_Silent_p.E57E|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.E55E|LUC7L2_ENST00000541515.3_Silent_p.E124E	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		ATCTTGGAGAATGTCTGAAAG	0.313																																						ENST00000354926.4																			0											c.(172-174)gaA>gaG									120	104	109					7																	139083362		1803	4077	5880	SO:0001819	synonymous_variant	0							g.chr7:139083362A>G		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.174A>G	7.37:g.139083362A>G						C7orf55-LUC7L2_ENST00000541170.3_Silent_p.E55E|C7orf55-LUC7L2_ENST00000263545.6_Silent_p.E57E|LUC7L2_ENST00000541515.3_Silent_p.E124E	p.E58E	NM_016019.3	NP_057103.2					3	528	+									Silent	SNP	ENST00000354926.4	37	c.174A>G	CCDS43656.1																																																																																				0.313	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			20	66	0	0	0	1	0	20	66					G	139083362	A	G	139083362	2	3	473	1	0	0	0	0	0	0	0	1	9083	98	4	3		3	LUC7L2	7	139083362	Silent	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08	73643725	139083362	20055301	19	38841											
RP1	6101	broad.mit.edu	37	chr8	55541377	55541377	+	Frame_Shift_Del	DEL	T	T	-													gcagatattatcaaaccatcTttttttcctgggtctacccg							TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr8:55541377delT	ENST00000220676.1	+	4	5083	c.4935delT	c.(4933-4935)tctfs	p.S1645fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1645					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)	p.P1648fs*62(1)		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)			TCAAACCATCTTTTTTTCCTG	0.378																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Deletion - Frameshift(1)	p.P1648fs*62(1)	large_intestine(1)	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						c.(4933-4935)tcfs		retinitis pigmentosa 1 (autosomal dominant)							96	100	99					8																	55541377		2202	4299	6501	SO:0001589	frameshift_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541377delT	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.4935delT	8.37:g.55541377delT	ENSP00000220676:p.Ser1645fs						p.S1645fs	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5083	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1645						Frame_Shift_Del	DEL	ENST00000220676.1	37	c.4935delT	CCDS6160.1																																																																																				0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	134						8	134	---	---	---	---	-	55541377	T	-	55541377	7	5	473	1	0	1	0	1	0	0	0	0	13532	1596	56	0	4945	0	RP1	8	55541377	Frame_Shift_Del	DEL	T	TCGA-TM-A84M-01A-11D-A36O-08		55541377	90822645	20	38842											
KLF9	687	broad.mit.edu	37	chr9	73027912	73027912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatggaggagggagagcGggctgggcgcgctgccagga	22	8	0	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:73027912G>A	ENST00000377126.2	-	1	1628	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	123					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GAGGGAGAGCGGGCTGGGCGC	0.607																																						ENST00000377126.2																			0				endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(367-369)cCg>cTg		Kruppel-like factor 9							94	96	95					9																	73027912		2203	4300	6503	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73027912G>A	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.368C>T	9.37:g.73027912G>A	ENSP00000366330:p.Pro123Leu						p.P123L	NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN			1	1628	-			123					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.368C>T	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767529	0.31320	.	.	ENSG00000119138	ENST00000377126	T	0.06768	3.26	4.55	3.65	0.41850	.	0.214071	0.32301	N	0.006288	T	0.06917	0.0176	L	0.34521	1.04	0.51482	D	0.999929	B	0.14805	0.011	B	0.06405	0.002	T	0.27773	-1.0064	10	0.27785	T	0.31	.	10.593	0.45321	0.096:0.0:0.904:0.0	.	123	Q13886	KLF9_HUMAN	L	123	ENSP00000366330:P123L	ENSP00000366330:P123L	P	-	2	0	KLF9	72217732	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.870000	0.63035	1.050000	0.40346	0.557000	0.71058	CCG		0.607	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		45	68	0	0	0	1	0	45	68					A	73027912	G	A	73027912	3	1	473	1	0	0	0	0	1	0	0	0	8353	1116	39	1	374	1	KLF9	9	73027912	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		73027912	68185519	21	38843											
FAM188A	80013	broad.mit.edu	37	chr10	15885222	15885222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcatacctgaacaatccCgccaagaagacttctccgaa	5	14	2	3			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr10:15885222C>T	ENST00000277632.3	-	3	444	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	75					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAACAATCCCGCCAAGAAGA	0.343																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(223-225)cGg>cAg		family with sequence similarity 188, member A							79	88	85					10																	15885222		2202	4299	6501	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15885222C>T	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.224G>A	10.37:g.15885222C>T	ENSP00000277632:p.Arg75Gln					FAM188A_ENST00000477891.1_5'UTR	p.R75Q	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			3	444	-			75					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.224G>A	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348284	0.61183	.	.	ENSG00000148481	ENST00000277632	T	0.28895	1.59	5.44	5.44	0.79542	.	0.043313	0.85682	D	0.000000	T	0.35480	0.0933	L	0.33339	1.005	0.80722	D	1	D	0.69078	0.997	P	0.55545	0.778	T	0.02617	-1.1133	10	0.13108	T	0.6	-9.365	15.9816	0.80114	0.0:1.0:0.0:0.0	.	75	Q9H8M7	F188A_HUMAN	Q	75	ENSP00000277632:R75Q	ENSP00000277632:R75Q	R	-	2	0	FAM188A	15925228	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.717000	0.54911	2.545000	0.85829	0.655000	0.94253	CGG		0.343	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		38	64	0	0	0	1	0	38	64					T	15885222	C	T	15885222	3	4	473	1	0	0	0	0	1	0	0	0	5514	652	23	1	1165	1	FAM188A	10	15885222	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		15885222	119649525	22	38844											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466676	57466676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagttcctcctcagatgatTcaaagagatcacctttgggc	8	11	3	3			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr11:57466676T>C	ENST00000287169.3	+	11	3130	c.1768T>C	c.(1768-1770)Tca>Cca	p.S590P	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	590					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						CTCAGATGATTCAAAGAGATC	0.607																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1768-1770)Tca>Cca		zinc finger, DHHC-type containing 5							80	86	84					11																	57466676		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466676T>C	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.1768T>C	11.37:g.57466676T>C	ENSP00000287169:p.Ser590Pro					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	p.S590P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	3130	+			590					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1768T>C	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	T	9.779	1.174826	0.21704	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.59224	0.28;1.29	5.83	3.49	0.39957	.	0.358383	0.29884	N	0.010947	T	0.34424	0.0897	N	0.22421	0.69	0.42468	D	0.992814	B	0.17667	0.023	B	0.19666	0.026	T	0.16600	-1.0397	10	0.02654	T	1	-3.8725	6.8621	0.24072	0.0:0.0764:0.1526:0.771	.	590	Q9C0B5	ZDHC5_HUMAN	P	537;590	ENSP00000432202:S537P;ENSP00000287169:S590P	ENSP00000287169:S590P	S	+	1	0	ZDHHC5	57223252	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	1.676000	0.37565	1.008000	0.39264	0.533000	0.62120	TCA		0.607	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		44	55	0	0	0	1	0	44	55					C	57466676	T	C	57466676	3	2	473	1	0	0	0	0	1	0	0	0	17615	1783	62	3	1806	3	ZDHHC5	11	57466676	Missense_Mutation	SNP	T	TCGA-TM-A84M-01A-11D-A36O-08		57466676	77539840	23	38845											
REM2	161253	broad.mit.edu	37	chr14	23354539	23354539	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actctagtcgtttatgacatCtgggaacaggtgagaactaa	10	7	2	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:23354539C>A	ENST00000267396.4	+	3	633	c.510C>A	c.(508-510)atC>atA	p.I170I	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	170					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TTTATGACATCTGGGAACAGG	0.507																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(508-510)atC>atA		RAS (RAD and GEM)-like GTP binding 2							142	132	135					14																	23354539		2010	4191	6201	SO:0001819	synonymous_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354539C>A		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.510C>A	14.37:g.23354539C>A						REM2_ENST00000536884.1_Intron	p.I170I	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	3	633	+	all_cancers(95;4.69e-05)		170					B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	37	c.510C>A	CCDS45082.1																																																																																				0.507	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		32	36	1	0	8.53417e-09	1	8.70834e-09	32	36					A	23354539	C	A	23354539	2	1	473	1	0	0	0	0	0	0	0	1	13223	903	32	4		4	REM2	14	23354539	Silent	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		23354539	83995001	24	38846											
PLA2G4D	283748	broad.mit.edu	37	chr15	42363709	42363709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactggtgaggtcataccaGgcatccagcaggttcaggga	14	9	2	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:42363709G>A	ENST00000290472.3	-	16	1708	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	538	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|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)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTCATACCAGGCATCCAGCA	0.592																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1612-1614)gcC>gcT		phospholipase A2, group IVD (cytosolic)							102	86	92					15																	42363709		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363709G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1614C>T	15.37:g.42363709G>A							p.A538A	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	16	1708	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	538			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1614C>T	CCDS32203.1																																																																																				0.592	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		27	35	0	0	0	1	0	27	35					A	42363709	G	A	42363709	2	1	473	1	0	0	0	0	0	0	0	1	12004	987	35	2		2	PLA2G4D	15	42363709	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		42363709	60167683	25	38847											
C15orf38	348110	broad.mit.edu	37	chr15	90446605	90446605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcctcaagtttggccAatgaatctgaaagaagagat	9	8	2	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:90446605A>G	ENST00000357484.5	-	5	635	c.515T>C	c.(514-516)tTg>tCg	p.L172S	C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S|C15orf38-AP3S2_ENST00000560224.1_5'Flank|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		172					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AAGTTTGGCCAATGAATCTGA	0.502																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(514-516)tTg>tCg		chromosome 15 open reading frame 38							136	129	131					15																	90446605		1953	4147	6100	SO:0001583	missense	348110							g.chr15:90446605A>G																												ENST00000357484.5:c.515T>C	15.37:g.90446605A>G	ENSP00000350075:p.Leu172Ser					C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S|C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S	p.L172S	NM_182616.2	NP_872422.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		5	635	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.515T>C	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087736	0.55968	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.54479	0.57	5.85	5.85	0.93711	.	0.100480	0.40554	U	0.001067	T	0.60025	0.2237	L	0.51422	1.61	0.39016	D	0.95964	P;P	0.51147	0.92;0.942	P;P	0.53360	0.575;0.724	T	0.64888	-0.6301	10	0.59425	D	0.04	-18.7993	14.1823	0.65583	1.0:0.0:0.0:0.0	.	172;172	Q7Z6K5;E2QRD5	CO038_HUMAN;.	S	172	ENSP00000381377:L172S	ENSP00000381377:L172S	L	-	2	0	C15orf38-AP3S2;C15orf38	88247609	1.000000	0.71417	0.531000	0.27976	0.356000	0.29392	7.625000	0.83145	2.233000	0.73108	0.533000	0.62120	TTG		0.502	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			34	55	0	0	0	1	0	34	55					G	90446605	A	G	90446605	3	3	473	1	0	0	0	0	1	0	0	0	1792	131	5	3	173	3	C15orf38	15	90446605	Missense_Mutation	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08	48082896	90446605	12084787	26	38848											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	35	0	0	0	1	0	17	35					A	7577539	G	A	7577539	3	1	473	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		7577539	73617671	27	38849											
MYH4	4622	broad.mit.edu	37	chr17	10366488	10366488	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttagctgaaaagtaactcGggacttctctagcagatctg	9	9	2	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:10366488G>A	ENST00000255381.2	-	10	933	c.823C>T	c.(823-825)Cga>Tga	p.R275*	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	275	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						AAAGTAACTCGGGACTTCTCT	0.353																																						ENST00000255381.2																			0				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						c.(823-825)Cga>Tga		myosin, heavy chain 4, skeletal muscle							76	78	77					17																	10366488		2203	4300	6503	SO:0001587	stop_gained	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10366488G>A		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.823C>T	17.37:g.10366488G>A	ENSP00000255381:p.Arg275*					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R275*	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			10	933	-			275			Myosin head-like.			Nonsense_Mutation	SNP	ENST00000255381.2	37	c.823C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353656	0.95830	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.37	-0.0246	0.13938	.	0.000000	0.35320	U	0.003296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5683	0.76313	0.0:0.0:0.2102:0.7898	.	.	.	.	X	275	.	ENSP00000255381:R275X	R	-	1	2	MYH4	10307213	0.139000	0.22563	0.530000	0.27963	0.997000	0.91878	0.358000	0.20216	0.248000	0.21435	0.650000	0.86243	CGA		0.353	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	52	0	0	0	1	0	5	52					A	10366488	G	A	10366488	4	1	473	1	0	0	0	0	0	1	0	0	10037	1124	39	1	5120	1	MYH4	17	10366488	Nonsense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	2788949	10366488	70828722	28	38850											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	13	15	2	1	rs138271368	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			3	Substitution - Missense(3)	p.V205I(3)	prostate(1)|kidney(1)|central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(613-615)Gtt>Att		keratin 15		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75	75	75		613	2.7	1	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673185C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile					KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	p.V205I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4198	-		Breast(137;0.000286)	205			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.613G>A	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		9	76	0	0	0	1	0	9	76					T	39673185	C	T	39673185	3	4	473	1	0	0	0	0	1	0	0	0	8452	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	29306697	39673185	41522025	29	38851											
ABCA8	10351	broad.mit.edu	37	chr17	66873682	66873682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgatggcaacctcagcatCccctttcctcagccctttca	6	16	3	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:66873682C>T	ENST00000269080.2	-	31	4194	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1353	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTCAGCATCCCCTTTCCTC	0.587																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4057-4059)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 8							188	170	176					17																	66873682		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873682C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4057G>A	17.37:g.66873682C>T	ENSP00000269080:p.Asp1353Asn					ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N	p.D1353N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4194	-	Breast(10;4.56e-13)		1353			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4057G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184712	0.78677	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.93604	-3.25;-3.25	4.34	3.33	0.38152	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.129169	0.34067	N	0.004283	D	0.94798	0.8320	L	0.52823	1.66	0.09310	N	0.999999	D;D;D	0.67145	0.996;0.97;0.996	D;P;D	0.74023	0.982;0.891;0.969	D	0.88814	0.3294	10	0.35671	T	0.21	.	13.2306	0.59941	0.0:0.8326:0.1674:0.0	.	1393;1393;1353	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	N	1353;1393	ENSP00000269080:D1353N;ENSP00000402814:D1393N	ENSP00000269080:D1353N	D	-	1	0	ABCA8	64385277	0.925000	0.31364	0.004000	0.12327	0.396000	0.30629	3.238000	0.51352	1.144000	0.42321	0.637000	0.83480	GAT		0.587	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		60	148	0	0	0	1	0	60	148					T	66873682	C	T	66873682	3	4	473	1	0	0	0	0	1	0	0	0	38	855	30	2	720	2	ABCA8	17	66873682	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	27200497	66873682	14321528	30	38852											
KIF19	124602	broad.mit.edu	37	chr17	72341014	72341014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgtgcgccagcgcagcCgggtcaagaacatcttgcag	13	13	2	2	rs145463528	byFrequency	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:72341014C>T	ENST00000389916.4	+	7	835	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	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						CCAGCGCAGCCGGGTCAAGAA	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		16886	0.002		0.0	False		,,,				2504	0.0					ENST00000389916.4																			0				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						c.(697-699)Cgg>Tgg		kinesin family member 19							30	32	31					17																	72341014		2200	4298	6498	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72341014C>T	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.697C>T	17.37:g.72341014C>T	ENSP00000374566:p.Arg233Trp						p.R233W	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			7	835	+			233			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.697C>T	CCDS32718.2	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	18.83	3.707819	0.68615	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75938	-0.98;-0.98	5.49	2.24	0.28232	Kinesin, motor domain (4);	.	.	.	.	T	0.81475	0.4830	M	0.87827	2.91	0.50467	D	0.999872	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.978;0.978	T	0.83109	-0.0124	9	0.87932	D	0	.	8.7635	0.34689	0.2637:0.6636:0.0:0.0727	.	233;191;191;233	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	W	191;233	ENSP00000449134:R191W;ENSP00000374566:R233W	ENSP00000374566:R233W	R	+	1	2	KIF19	69852609	1.000000	0.71417	0.967000	0.41034	0.369000	0.29798	2.745000	0.47459	0.636000	0.30508	0.556000	0.70494	CGG		0.687	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		12	48	0	0	0	1	0	12	48					T	72341014	C	T	72341014	3	4	473	1	0	0	0	0	1	0	0	0	8282	643	23	1	723	1	KIF19	17	72341014	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	5467332	72341014	8854196	31	38853											
MUC16	94025	broad.mit.edu	37	chr19	9049228	9049228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagttgtacttgtctttgcCgccaaactggtgaccattga	9	9	1	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:9049228C>T	ENST00000397910.4	-	5	32606	c.32403G>A	c.(32401-32403)gcG>gcA	p.A10801A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10803	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.A10801A(1)|p.A6434A(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						TTGTCTTTGCCGCCAAACTGG	0.507																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.A10801A(1)|p.A6434A(1)	lung(2)	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						c.(32401-32403)gcG>gcA		mucin 16, cell surface associated							175	160	165					19																	9049228		1979	4166	6145	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049228C>T	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.32403G>A	19.37:g.9049228C>T							p.A10801A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32606	-			10803			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.32403G>A	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		92	99	0	0	0	1	0	92	99					T	9049228	C	T	9049228	2	4	473	1	0	0	0	0	0	0	0	1	9973	639	23	1		1	MUC16	19	9049228	Silent	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		9049228	50079755	32	38854											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	12	16	2	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		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)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	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						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66	65	65					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	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.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	22	0	0	0	1	0	5	22					A	42791758	G	A	42791758	3	1	473	1	0	0	0	0	1	0	0	0	3424	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	33742530	42791758	16337225	33	38855											
RSPH1	89765	broad.mit.edu	37	chr21	43896045	43896045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaactcctcctggtcataCtcccggctctcttcccggag	9	17	2	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr21:43896045C>A	ENST00000291536.3	-	8	1007	c.840G>T	c.(838-840)gaG>gaT	p.E280D	RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	280					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						CCTGGTCATACTCCCGGCTCT	0.637																																					Esophageal Squamous(23;63 706 6286 10288 12913)	ENST00000291536.3																			0				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						c.(838-840)gaG>gaT		radial spoke head 1 homolog (Chlamydomonas)							184	142	156					21																	43896045		2203	4300	6503	SO:0001583	missense	89765				meiosis	cytosol|nucleus		g.chr21:43896045C>A	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.840G>T	21.37:g.43896045C>A	ENSP00000291536:p.Glu280Asp					RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	p.E280D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN			8	1007	-			280					A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	c.840G>T	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184422	0.09495	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.61859	0.12;0.07	1.9	-0.211	0.13172	.	0.192113	0.20556	U	0.090010	T	0.39963	0.1098	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19484	-1.0304	10	0.22706	T	0.39	.	7.7918	0.29125	0.0:0.3956:0.6043:0.0	.	280	Q8WYR4	RSPH1_HUMAN	D	280;242	ENSP00000291536:E280D;ENSP00000381395:E242D	ENSP00000291536:E280D	E	-	3	2	RSPH1	42769114	0.061000	0.20836	0.001000	0.08648	0.006000	0.05464	0.773000	0.26661	-0.047000	0.13423	-0.305000	0.09177	GAG		0.637	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			19	21	1	0	1.33834e-09	1	1.3941e-09	19	21					A	43896045	C	A	43896045	3	1	473	1	0	0	0	0	1	0	0	0	13702	564	20	4	97	4	RSPH1	21	43896045	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		43896045	4233850	34	38856											
SMC1A	8243	broad.mit.edu	37	chrX	53440235	53440235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgcaatatttttcttgcGatggtaattaaactgtgtgt	9	6	1	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chrX:53440235G>A	ENST00000322213.4	-	4	689	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	188					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						TTTTTCTTGCGATGGTAATTA	0.493																																						ENST00000322213.4																			0				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						c.(562-564)Cgc>Tgc		structural maintenance of chromosomes 1A							231	203	212					X																	53440235		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53440235G>A	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.562C>T	X.37:g.53440235G>A	ENSP00000323421:p.Arg188Cys					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.R188C	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			4	689	-			188					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.562C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540863	0.65085	.	.	ENSG00000072501	ENST00000322213;ENST00000340213	D	0.82167	-1.58	4.52	4.52	0.55395	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.71414	0.899;0.973;0.964	D	0.92029	0.5632	10	0.87932	D	0	.	15.5515	0.76155	0.0:0.0:1.0:0.0	.	166;188;188	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	C	188;187	ENSP00000323421:R188C	ENSP00000323421:R188C	R	-	1	0	SMC1A	53456960	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.347000	0.44036	1.998000	0.58463	0.436000	0.28706	CGC		0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		57	4	0	0	0	1	0	57	4					A	53440235	G	A	53440235	3	1	473	1	0	0	0	0	1	0	0	0	14781	1058	37	1	3227	1	SMC1A	23	53440235	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		53440235	101830325	35	38857											
SSU72	29101	broad.mit.edu	37	chr1	1509924	1509924	+	Frame_Shift_Del	DEL	G	G	-													acaccaccgccacccgcagcGgggacgacggcatggcggcg							TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:1509924delG	ENST00000291386.3	-	1	325	c.14delC	c.(13-15)ccgfs	p.P5fs	SSU72_ENST00000359060.4_Frame_Shift_Del_p.P5fs|AL645728.1_ENST00000366221.2_5'Flank	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	5					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CACCCGCAGCGGGGACGACGG	0.701																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(13-15)cgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)							39	27	31					1																	1509924		2199	4299	6498	SO:0001589	frameshift_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1509924delG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.14delC	1.37:g.1509924delG	ENSP00000291386:p.Pro5fs					SSU72_ENST00000291386.3_Frame_Shift_Del_p.P5fs	p.P5fs			Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	1	40	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)	5					Q9BZS6|Q9H933	Frame_Shift_Del	DEL	ENST00000291386.3	37	c.14delC	CCDS32.1																																																																																				0.701	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		2	4						2	4	---	---	---	---	-	1509924	G	-	1509924	7	5	474	1	0	1	0	1	0	0	0	0	15201	1116	39	0	590	0	SSU72	1	1509924	Frame_Shift_Del	DEL	G	TCGA-TM-A84O-01A-11D-A36O-08		1509924	247740697	1	38858											
KDM1A	23028	broad.mit.edu	37	chr1	23356963	23356964	+	Splice_Site	INS	-	-	A													ggtatgatctccatataggtINSagagtacagagagatggatg							TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:23356963_23356964insA	ENST00000356634.3	+	2	502_503	c.353_354insA	c.(352-357)gtagag>gtAagag	p.E119fs	KDM1A_ENST00000400181.4_Splice_Site_p.E119fs|KDM1A_ENST00000542151.1_Splice_Site_p.E119fs|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	119					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCATATAGGTAGAGTACAGAG	0.386																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.e2-1		lysine (K)-specific demethylase 1A																																				SO:0001630	splice_region_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23356963_23356964insA	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.352-1->A	1.37:g.23356964_23356964dupA						RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Splice_Site_p.G118_splice|KDM1A_ENST00000356634.3_Splice_Site_p.G118_splice	p.G118_splice	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			2	457_458	+			118					A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Splice_Site	INS	ENST00000356634.3	37	c.351_splice	CCDS30627.1																																																																																				0.386	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	Frame_Shift_Ins	9	8						9	8	---	---	---	---	A	23356964	-	A	23356963	8	5	474	1	0	1	1	0	0	0	1	0	8122	1652	57	0	359	0	KDM1A	1	23356963	Splice_Site	INS	-	TCGA-TM-A84O-01A-11D-A36O-08	21847039	23356963	225893658	2	38859											
C1orf175	374977	broad.mit.edu	37	chr1	55118674	55118674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtcccccctcctgtggGgccccgggattagggtctgg	14	15	1	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:55118674G>A	ENST00000421030.2	+	3	360	c.75G>A	c.(73-75)ggG>ggA	p.G25G	MROH7_ENST00000395690.2_Silent_p.G25G|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Silent_p.G25G|MROH7_ENST00000472987.1_3'UTR|MROH7-TTC4_ENST00000414150.2_Silent_p.G25G|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	25						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCTCCTGTGGGGCCCCGGGAT	0.592																																						ENST00000414150.2																			0											c.(73-75)ggG>ggA		maestro heat-like repeat family member 7							56	57	56					1																	55118674		1875	4089	5964	SO:0001819	synonymous_variant	374977							g.chr1:55118674G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.75G>A	1.37:g.55118674G>A						MROH7_ENST00000339553.5_Silent_p.G25G|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000421030.2_Silent_p.G25G|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.G25G	p.G25G							3	353	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.75G>A	CCDS41342.2																																																																																				0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		22	15	0	0	0	1	0	22	15					A	55118674	G	A	55118674	2	1	474	1	0	0	0	0	0	0	0	1	2016	1219	43	2		2	C1orf175	1	55118674	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	31761711	55118674	194131947	3	38860											
VIT	5212	broad.mit.edu	37	chr2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttccgacacggacacgCgcatcggggccgtgcagtac	13	13	0	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:37035867C>T	ENST00000389975.3	+	14	1899	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	VIT_ENST00000379242.3_Missense_Mutation_p.R548C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2. {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)	p.R548S(1)		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)				CACGGACACGCGCATCGGGGC	0.587																																						ENST00000379242.3																			1	Substitution - Missense(1)	p.R548S(1)	lung(1)	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						c.(1642-1644)Cgc>Tgc		vitrin							81	78	79					2																	37035867		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035867C>T	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.1597C>T	2.37:g.37035867C>T	ENSP00000374625:p.Arg533Cys					VIT_ENST00000401530.1_Missense_Mutation_p.R512C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000389975.3_Missense_Mutation_p.R533C|VIT_ENST00000379241.3_Missense_Mutation_p.R511C	p.R548C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1944	+		all_hematologic(82;0.248)	533			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1642C>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897948	0.52227	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.27	4.39	0.52855	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.96916	3.905	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;0.999;1.0;0.999	D	0.94779	0.7952	10	0.87932	D	0	-15.256	8.8491	0.35188	0.1481:0.7767:0.0:0.0752	.	512;511;533;548	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	C	548;533;202;485;511;512	ENSP00000368544:R548C;ENSP00000374625:R533C;ENSP00000417874:R202C;ENSP00000384154:R485C;ENSP00000368543:R511C;ENSP00000385658:R512C	ENSP00000368543:R511C	R	+	1	0	VIT	36889371	0.998000	0.40836	0.060000	0.19600	0.449000	0.32228	3.857000	0.55972	1.225000	0.43566	0.557000	0.71058	CGC		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				19	20	0	0	0	1	0	19	20					T	37035867	C	T	37035867	3	4	474	1	0	0	0	0	1	0	0	0	17168	768	27	1	1821	1	VIT	2	37035867	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		37035867	206163506	4	38861											
THUMPD2	80745	broad.mit.edu	37	chr2	39997066	39997066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattctcttctatcttttgCatttgttctatttttaattt	2	7	4	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:39997066C>T	ENST00000505747.1	-	3	483	c.456G>A	c.(454-456)atG>atA	p.M152I	THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	152							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTATCTTTTGCATTTGTTCTA	0.318																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(454-456)atG>atA		THUMP domain containing 2							79	70	73					2																	39997066		2203	4299	6502	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39997066C>T	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.456G>A	2.37:g.39997066C>T	ENSP00000423933:p.Met152Ile					THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I	p.M152I	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			3	483	-		all_hematologic(82;0.248)	152					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.456G>A	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873507	0.33069	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.46	-1.63	0.08345	.	1.127920	0.06418	N	0.721745	T	0.24699	0.0599	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.002	T	0.22591	-1.0212	8	.	.	.	.	6.3121	0.21171	0.0:0.4543:0.1282:0.4175	.	122;59;152	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	I	152;122;122	.	.	M	-	3	0	THUMPD2	39850570	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-1.377000	0.02558	-0.227000	0.09884	0.650000	0.86243	ATG		0.318	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		10	22	0	0	0	1	0	10	22					T	39997066	C	T	39997066	3	4	474	1	0	0	0	0	1	0	0	0	15880	710	25	2	1087	2	THUMPD2	2	39997066	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	2961199	39997066	203202307	5	38862											
GFPT1	2673	broad.mit.edu	37	chr2	69554140	69554140	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccactgagtggggcaccTtgatcgttctttttgtgttc	11	9	1	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:69554140T>C	ENST00000357308.4	-	19	2139	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R	GFPT1_ENST00000361060.5_Missense_Mutation_p.K636R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	654	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGGGGCACCTTGATCGTTCT	0.473																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1960-1962)aAg>aGg		glutamine--fructose-6-phosphate transaminase 1							171	137	149					2																	69554140		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69554140T>C		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1961A>G	2.37:g.69554140T>C	ENSP00000349860:p.Lys654Arg					GFPT1_ENST00000361060.4_Missense_Mutation_p.K636R	p.K654R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			19	2139	-			654			SIS 2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1961A>G	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059205	0.55325	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.62105	0.05;0.05	5.31	5.31	0.75309	.	0.091723	0.85682	D	0.000000	T	0.38852	0.1056	N	0.02960	-0.455	0.80722	D	1	B	0.16166	0.016	B	0.17979	0.02	T	0.28235	-1.0050	10	0.31617	T	0.26	-14.8422	14.5996	0.68432	0.0:0.0:0.0:1.0	.	636	Q06210-2	.	R	654;636	ENSP00000349860:K654R;ENSP00000354347:K636R	ENSP00000349860:K654R	K	-	2	0	GFPT1	69407644	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.010000	0.70753	2.221000	0.72209	0.460000	0.39030	AAG		0.473	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				21	57	0	0	0	1	0	21	57					C	69554140	T	C	69554140	3	2	474	1	0	0	0	0	1	0	0	0	6345	1609	56	3	146	3	GFPT1	2	69554140	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08	29557074	69554140	173645233	6	38863											
INO80B	83444	broad.mit.edu	37	chr2	74682565	74682565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgagcctggcgggtgccCatggccatggagtgcacaag	16	10	0	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:74682565C>T	ENST00000233331.7	+	2	185	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y|INO80B_ENST00000469849.1_Intron|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	31					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GGCGGGTGCCCATGGCCATGG	0.567																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(91-93)Cat>Tat		INO80 complex subunit B							50	61	57					2																	74682565		2202	4300	6502	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74682565C>T	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.91C>T	2.37:g.74682565C>T	ENSP00000233331:p.His31Tyr					INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y	p.H31Y	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			2	185	+			31						Missense_Mutation	SNP	ENST00000233331.7	37	c.91C>T	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001482	0.54254	.	.	ENSG00000115274	ENST00000233331;ENST00000431187;ENST00000409917;ENST00000409493	T;T;T;T	0.46819	0.86;0.88;0.88;0.86	5.46	5.46	0.80206	.	0.207648	0.40908	D	0.000981	T	0.27205	0.0667	N	0.08118	0	0.30720	N	0.748373	P;B;B;B	0.36974	0.576;0.026;0.026;0.044	B;B;B;B	0.34722	0.188;0.029;0.029;0.013	T	0.34279	-0.9835	10	0.87932	D	0	-16.0456	10.2681	0.43466	0.0:0.9103:0.0:0.0897	.	49;31;31;31	B4DJ31;B4DJ22;Q9C086;B8ZZ93	.;.;IN80B_HUMAN;.	Y	31;31;31;36	ENSP00000233331:H31Y;ENSP00000389887:H31Y;ENSP00000387267:H31Y;ENSP00000386937:H36Y	ENSP00000233331:H31Y	H	+	1	0	INO80B	74536073	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	4.124000	0.57924	2.556000	0.86216	0.563000	0.77884	CAT		0.567	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		16	42	0	0	0	1	0	16	42					T	74682565	C	T	74682565	3	4	474	1	0	0	0	0	1	0	0	0	7747	594	21	2	97	2	INO80B	2	74682565	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	5128425	74682565	168516808	7	38864											
EDAR	10913	broad.mit.edu	37	chr2	109526915	109526915	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgggggcttccacataCctcttggtgggctttgctgg	15	10	1	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:109526915C>G	ENST00000258443.2	-	9	1234		c.e9+1		EDAR_ENST00000376651.1_Splice_Site|EDAR_ENST00000409271.1_Splice_Site	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTCCACATACCTCTTGGTGG	0.577																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	GRCh37	CS084677	EDAR	S		c.e9+1		ectodysplasin A receptor							76	69	71					2																	109526915		2203	4300	6503	SO:0001630	splice_region_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109526915C>G	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.803+1G>C	2.37:g.109526915C>G						EDAR_ENST00000258443.2_Splice_Site|EDAR_ENST00000376651.1_Splice_Site				Q9UNE0	EDAR_HUMAN			9	1343	-								B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Splice_Site	SNP	ENST00000258443.2	37		CCDS2081.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223138	0.79464	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4717	0.90777	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EDAR	108893347	1.000000	0.71417	0.995000	0.50966	0.840000	0.47671	7.031000	0.76491	2.383000	0.81215	0.561000	0.74099	.		0.577	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1		Intron	10	7	0	0	0	1	0	10	7					G	109526915	C	G	109526915	5	3	474	1	0	0	0	0	0	0	1	0	4905	521	18	4	558	4	EDAR	2	109526915	Splice_Site	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	34844350	109526915	133672458	8	38865											
B3GALT1	8708	broad.mit.edu	37	chr2	168725943	168725943	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaatcagatggtggagCaagagagccaaatcttccat	9	9	3	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:168725943C>G	ENST00000392690.3	+	1	486	c.394C>G	c.(394-396)Caa>Gaa	p.Q132E	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.Q132E			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	132					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						GATGGTGGAGCAAGAGAGCCA	0.478																																						ENST00000305861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(394-396)Caa>Gaa		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1							82	75	77					2																	168725943		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168725943C>G	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.394C>G	2.37:g.168725943C>G	ENSP00000376456:p.Gln132Glu					B3GALT1_ENST00000392690.2_Missense_Mutation_p.Q132E|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	p.Q132E	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN			2	745	+			132					D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.394C>G	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469578	0.04445	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.37915	1.17;1.17	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	N	0.12853	0.265	0.54753	D	0.999987	B	0.20887	0.049	B	0.22880	0.042	T	0.06499	-1.0823	10	0.13853	T	0.58	-18.316	17.0573	0.86537	0.1275:0.8725:0.0:0.0	.	132	Q9Y5Z6	B3GT1_HUMAN	E	132	ENSP00000303740:Q132E;ENSP00000376456:Q132E	ENSP00000303740:Q132E	Q	+	1	0	B3GALT1	168434189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.974000	0.70465	2.941000	0.99782	0.655000	0.94253	CAA		0.478	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		20	31	0	0	0	1	0	20	31					G	168725943	C	G	168725943	3	3	474	1	0	0	0	0	1	0	0	0	1247	711	25	4	396	4	B3GALT1	2	168725943	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	59199028	168725943	74473430	9	38866											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	30	0	0	0	1	0	18	30					T	209113112	C	T	209113112	3	4	474	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	40387169	209113112	34086261	10	38867											
ATP10D	57205	broad.mit.edu	37	chr4	47537946	47537946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaagcaatgctgaacaAcagtgggccacggtataagc	10	10	0	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:47537946A>G	ENST00000273859.3	+	7	1180	c.911A>G	c.(910-912)aAc>aGc	p.N304S	ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	304					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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)	p.N304T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGCTGAACAACAGTGGGCCA	0.408																																						ENST00000273859.3																			1	Substitution - Missense(1)	p.N304T(1)	ovary(1)	NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(910-912)aAc>aGc		ATPase, class V, type 10D							108	96	100					4																	47537946		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47537946A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.911A>G	4.37:g.47537946A>G	ENSP00000273859:p.Asn304Ser					ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S	p.N304S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			7	1180	+			304					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.911A>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695150	0.88830	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.90133	-2.62;-2.62	5.31	5.31	0.75309	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	L	0.37897	1.145	0.53005	D	0.999964	D;D	0.89917	0.971;1.0	D;D	0.91635	0.958;0.999	D	0.91843	0.5485	10	0.38643	T	0.18	-25.2807	14.7496	0.69516	1.0:0.0:0.0:0.0	.	304;304	Q9P241;Q6PEW3	AT10D_HUMAN;.	S	304	ENSP00000273859:N304S;ENSP00000420909:N304S	ENSP00000273859:N304S	N	+	2	0	ATP10D	47232703	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.129000	0.65627	0.460000	0.39030	AAC		0.408	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	37	0	0	0	1	0	11	37					G	47537946	A	G	47537946	3	3	474	1	0	0	0	0	1	0	0	0	1118	43	2	3	933	3	ATP10D	4	47537946	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		47537946	143616330	11	38868											
TET2	54790	broad.mit.edu	37	chr4	106157155	106157155	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctagatttcattttcaacaaAgagcagattcccaaactgaa	5	9	2	4			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:106157155A>T	ENST00000540549.1	+	3	2916	c.2056A>T	c.(2056-2058)Aga>Tga	p.R686*	TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000513237.1_Nonsense_Mutation_p.R707*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	686	Gln-rich.				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.F683fs*17(1)|p.R686fs*7(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)		TTTTCAACAAAGAGCAGATTC	0.423			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.F683fs*17(1)|p.R686fs*7(1)	haematopoietic_and_lymphoid_tissue(2)	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						c.(2119-2121)Aga>Tga		tet methylcytosine dioxygenase 2							100	100	100					4																	106157155		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157155A>T	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.2056A>T	4.37:g.106157155A>T	ENSP00000442788:p.Arg686*					TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R686*	p.R707*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2916	+		Myeloproliferative disorder(5;0.0393)	686			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.2119A>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	38	7.103096	0.98066	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.6	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7653	0.18224	0.6363:0.2122:0.1514:0.0	.	.	.	.	X	686;686;686;707;686;686;686	.	ENSP00000265149:R686X	R	+	1	2	TET2	106376604	0.124000	0.22315	0.001000	0.08648	0.494000	0.33585	2.009000	0.40903	0.434000	0.26340	0.533000	0.62120	AGA		0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		28	45	0	0	0	1	0	28	45					T	106157155	A	T	106157155	4	4	474	1	0	0	0	0	0	1	0	0	15767	64	3	5	2058	5	TET2	4	106157155	Nonsense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08	58619209	106157155	84997121	12	38869											
INPP4B	8821	broad.mit.edu	37	chr4	143326450	143326450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtattcagtttacgatcaCggacaggagccacgagatcc	11	10	2	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:143326450C>T	ENST00000513000.1	-	7	597	c.164G>A	c.(163-165)cGt>cAt	p.R55H	INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	55	C2.				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)					TTTACGATCACGGACAGGAGC	0.517																																						ENST00000513000.1																			0				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						c.(163-165)cGt>cAt		inositol polyphosphate-4-phosphatase, type II, 105kDa							111	97	102					4																	143326450		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143326450C>T	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.164G>A	4.37:g.143326450C>T	ENSP00000425487:p.Arg55His					INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H|INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H	p.R55H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			7	597	-	all_hematologic(180;0.158)		55			C2.		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.164G>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866928	0.51588	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788	T;T;T;T;T;T	0.30448	1.95;1.95;1.95;1.95;1.95;1.53	6.16	4.42	0.53409	C2 calcium/lipid-binding domain, CaLB (1);	0.281105	0.37761	N	0.001950	T	0.28665	0.0710	L	0.40543	1.245	0.34872	D	0.743652	P	0.50819	0.939	P	0.44772	0.46	T	0.43360	-0.9396	10	0.44086	T	0.13	.	12.0544	0.53527	0.1206:0.8164:0.0:0.0631	.	55	O15327	INP4B_HUMAN	H	55	ENSP00000425487:R55H;ENSP00000262992:R55H;ENSP00000308441:R55H;ENSP00000423954:R55H;ENSP00000422793:R55H;ENSP00000427250:R55H	ENSP00000262992:R55H	R	-	2	0	INPP4B	143545900	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	4.417000	0.59822	1.606000	0.50161	0.650000	0.86243	CGT		0.517	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		12	17	0	0	0	1	0	12	17					T	143326450	C	T	143326450	3	4	474	1	0	0	0	0	1	0	0	0	7753	536	19	1	2694	1	INPP4B	4	143326450	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	37169295	143326450	47827826	13	38870											
MAP3K5	4217	broad.mit.edu	37	chr6	136882674	136882674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacagttttctttacccgGcttatagtgtcttcatcagc	7	11	4	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr6:136882674G>A	ENST00000359015.4	-	28	4344	c.3984C>T	c.(3982-3984)agC>agT	p.S1328S	MAP3K5_ENST00000355845.4_Silent_p.S575S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1328					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)		TCTTTACCCGGCTTATAGTGT	0.433																																						ENST00000359015.4																			0				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						c.(3982-3984)agC>agT		mitogen-activated protein kinase kinase kinase 5							82	80	80					6																	136882674		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136882674G>A	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.3984C>T	6.37:g.136882674G>A						MAP3K5_ENST00000355845.4_Silent_p.S575S	p.S1328S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	28	4344	-	Colorectal(23;0.24)		1328					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3984C>T	CCDS5179.1																																																																																				0.433	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			3	48	0	0	0	1	0	3	48					A	136882674	G	A	136882674	2	1	474	1	0	0	0	0	0	0	0	1	9253	1194	42	2		2	MAP3K5	6	136882674	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		136882674	34232393	14	38871											
SPDYE1	285955	broad.mit.edu	37	chr7	44046924	44046924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaacaaaacatcttccaCttcctgtatgggaagaaccg	6	12	1	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr7:44046924C>A	ENST00000258704.3	+	5	827	c.690C>A	c.(688-690)caC>caA	p.H230Q	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	230										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACATCTTCCACTTCCTGTATG	0.557																																						ENST00000258704.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(688-690)caC>caA		speedy/RINGO cell cycle regulator family member E1							133	134	133					7																	44046924		2203	4298	6501	SO:0001583	missense	285955							g.chr7:44046924C>A	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"Speedy homologs"	16408	protein-coding gene	gene with protein product	"Speedy E"		"Williams Beuren syndrome chromosome region 19", "speedy homolog E1 (Xenopus laevis)"	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.690C>A	7.37:g.44046924C>A	ENSP00000258704:p.His230Gln					AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	p.H230Q	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN			5	827	+			230					Q9NTH5	Missense_Mutation	SNP	ENST00000258704.3	37	c.690C>A	CCDS5475.1	.	.	.	.	.	.	.	.	.	.	.	7.640	0.680709	0.14907	.	.	ENSG00000136206	ENST00000258704	.	.	.	.	.	.	.	1.399150	0.04988	N	0.466847	T	0.16685	0.0401	N	0.02539	-0.55	0.09310	N	1	B	0.29766	0.256	B	0.34652	0.187	T	0.25676	-1.0125	7	0.30078	T	0.28	.	.	.	.	.	230	Q8NFV5	SPDE1_HUMAN	Q	230	.	ENSP00000258704:H230Q	H	+	3	2	SPDYE1	44013449	0.074000	0.21230	0.384000	0.26145	0.386000	0.30323	0.855000	0.27805	0.088000	0.17205	0.089000	0.15464	CAC		0.557	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064		57	84	1	0	1.45723e-30	1	1.58581e-30	57	84					A	44046924	C	A	44046924	3	1	474	1	0	0	0	0	1	0	0	0	15028	564	20	4	708	4	SPDYE1	7	44046924	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		44046924	115091739	15	38872											
OSR2	116039	broad.mit.edu	37	chr8	99961351	99961351	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaccactggacgctgggGtatcccaatgtgcacgagat	12	10	0	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr8:99961351G>A	ENST00000297565.4	+	2	667	c.171G>A	c.(169-171)ggG>ggA	p.G57G	OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000435298.2_Silent_p.G57G|OSR2_ENST00000522510.1_Silent_p.G57G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|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)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACGCTGGGGTATCCCAATG	0.657																																						ENST00000297565.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(169-171)ggG>ggA		odd-skipped related transciption factor 2							54	60	58					8																	99961351		2069	4196	6265	SO:0001819	synonymous_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961351G>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.171G>A	8.37:g.99961351G>A						OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000522510.1_Silent_p.G57G|OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000435298.2_Silent_p.G57G	p.G57G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	667	+	Breast(36;4.14e-07)		57					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.171G>A	CCDS47901.1																																																																																				0.657	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		18	29	0	0	0	1	0	18	29					A	99961351	G	A	99961351	2	1	474	1	0	0	0	0	0	0	0	1	11294	1248	44	2		2	OSR2	8	99961351	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		99961351	46402671	16	38873											
DLG5	9231	broad.mit.edu	37	chr10	79581312	79581312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggcgtttgaaagtgTtagggtcaaagatggacttt	15	4	2	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr10:79581312T>C	ENST00000372391.2	-	15	2935	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	977					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)			TTTGAAAGTGTTAGGGTCAAA	0.577																																						ENST00000372391.2																			0				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						c.(2929-2931)aAc>aGc		discs, large homolog 5 (Drosophila)							43	47	45					10																	79581312		2107	4150	6257	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581312T>C	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.2930A>G	10.37:g.79581312T>C	ENSP00000361467:p.Asn977Ser					DLG5_ENST00000372388.2_Intron	p.N977S	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	2935	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		977					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2930A>G	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341115	0.60963	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04360	3.64	5.81	5.81	0.92471	.	0.000000	0.42420	D	0.000702	T	0.06234	0.0161	L	0.40543	1.245	0.80722	D	1	P;P	0.42692	0.787;0.682	B;B	0.39840	0.311;0.164	T	0.50923	-0.8770	10	0.23891	T	0.37	.	16.1463	0.81575	0.0:0.0:0.0:1.0	.	867;977	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	S	977;526	ENSP00000361467:N977S	ENSP00000361467:N977S	N	-	2	0	DLG5	79251318	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	7.684000	0.84104	2.216000	0.71823	0.496000	0.49642	AAC		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			11	57	0	0	0	1	0	11	57					C	79581312	T	C	79581312	3	2	474	1	0	0	0	0	1	0	0	0	4558	1725	60	3	2901	3	DLG5	10	79581312	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08		79581312	55953435	17	38874											
OR4C13	283092	broad.mit.edu	37	chr11	49974112	49974112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgctcattgtggtcacCatcactgccagcccatcact	7	14	4	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:49974112C>T	ENST00000555099.1	+	1	170	c.138C>T	c.(136-138)acC>acT	p.T46T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	46						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(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTGTGGTCACCATCACTGCCA	0.438																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(136-138)acC>acT		olfactory receptor, family 4, subfamily C, member 13							252	230	237					11																	49974112		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974112C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.138C>T	11.37:g.49974112C>T							p.T46T	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	170	+			46					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.138C>T	CCDS31495.1																																																																																				0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		49	85	0	0	0	1	0	49	85					T	49974112	C	T	49974112	2	4	474	1	0	0	0	0	0	0	0	1	11047	581	21	2		2	OR4C13	11	49974112	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		49974112	85032404	18	38875											
OR1S2	219958	broad.mit.edu	37	chr11	57971059	57971059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatctgaacaggacagttTgagcagaggggccaagtcac	13	8	2	3			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:57971059T>C	ENST00000302592.6	-	1	594	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAGGACAGTTTGAGCAGAGGG	0.413																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(595-597)Aaa>Gaa		olfactory receptor, family 1, subfamily S, member 2							218	202	207					11																	57971059		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971059T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.595A>G	11.37:g.57971059T>C	ENSP00000305469:p.Lys199Glu						p.K199E	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	594	-		Breast(21;0.0589)	199					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.595A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775261	0.31411	.	.	ENSG00000197887	ENST00000302592	T	0.00253	8.43	4.75	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.936384	0.08891	N	0.878571	T	0.00241	0.0007	M	0.78344	2.41	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.40997	-0.9533	10	0.62326	D	0.03	.	6.1001	0.20043	0.0:0.0853:0.3122:0.6025	.	199	Q8NGQ3	OR1S2_HUMAN	E	199	ENSP00000305469:K199E	ENSP00000305469:K199E	K	-	1	0	OR1S2	57727635	0.000000	0.05858	0.945000	0.38365	0.643000	0.38383	0.562000	0.23531	0.925000	0.37094	0.533000	0.62120	AAA		0.413	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		33	75	0	0	0	1	0	33	75					C	57971059	T	C	57971059	3	2	474	1	0	0	0	0	1	0	0	0	10973	1821	63	3	385	3	OR1S2	11	57971059	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08	7996947	57971059	77035457	19	38876											
FAM111A	63901	broad.mit.edu	37	chr11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccaagaaatgcttgtgCgtggcacagaaggaatcaaa	12	7	1	2	rs202134817		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:58919526C>T	ENST00000528737.1	+	5	3203	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	129					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20747	0.0		0.0	False		,,,				2504	0.0					ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(385-387)Cgt>Tgt		family with sequence similarity 111, member A		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	84	81	82		385,385,385,385,385	-10.9	0	11		82	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,missense,missense,missense	FAM111A	NM_001142519.1,NM_001142520.1,NM_001142521.1,NM_022074.3,NM_198847.2	180,180,180,180,180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	129/612,129/612,129/612,129/612,129/612	58919526	1,12991	2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919526C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.385C>T	11.37:g.58919526C>T	ENSP00000434435:p.Arg129Cys					FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C	p.R129C			Q96PZ2	F111A_HUMAN			5	3203	+		all_epithelial(135;0.139)	129					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.385C>T	CCDS7973.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.83	1.461019	0.26248	0.0	1.16E-4	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.43	-10.9	0.00192	.	2.029340	0.01794	N	0.032506	T	0.13713	0.0332	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.10753	-1.0616	10	0.38643	T	0.18	-8.3227	6.3075	0.21147	0.0821:0.1557:0.1632:0.599	.	129	Q96PZ2	F111A_HUMAN	C	129	ENSP00000434435:R129C;ENSP00000406683:R129C;ENSP00000355264:R129C;ENSP00000436128:R129C;ENSP00000433154:R129C;ENSP00000431631:R129C	ENSP00000355264:R129C	R	+	1	0	FAM111A	58676102	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.342000	0.01099	-2.297000	0.00661	-0.781000	0.03364	CGT		0.443	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		17	31	0	0	0	1	0	17	31					T	58919526	C	T	58919526	3	4	474	1	0	0	0	0	1	0	0	0	5399	768	27	1	391	1	FAM111A	11	58919526	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	948467	58919526	76086990	20	38877											
MSRB3	253827	broad.mit.edu	37	chr12	65847524	65847524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggttggccttcattccaCgatgtgatcaattctgaggc	10	11	3	2	rs140600679		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:65847524C>T	ENST00000355192.3	+	5	456	c.330C>T	c.(328-330)caC>caT	p.H110H	MSRB3_ENST00000535664.1_Silent_p.H103H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000308259.5_Silent_p.H103H	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	110					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTTCATTCCACGATGTGATCA	0.448																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(307-309)caC>caT		methionine sulfoxide reductase B3		C	,,,	0,4406		0,0,2203	175	155	161		309,309,309,330	-7.6	0.9	12	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MSRB3	NM_001031679.2,NM_001193460.1,NM_001193461.1,NM_198080.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	103/186,103/186,103/186,110/193	65847524	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65847524C>T	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.330C>T	12.37:g.65847524C>T						MSRB3_ENST00000535664.1_Silent_p.H103H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000355192.3_Silent_p.H110H	p.H103H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	6	583	+			110					B4DR19|B7ZAQ0|Q6UXS2	Silent	SNP	ENST00000355192.3	37	c.309C>T	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	0.644	-0.812279	0.02798	0.0	1.16E-4	ENSG00000174099	ENST00000541189;ENST00000446731	.	.	.	5.45	-7.57	0.01318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.3997	18.3015	0.90165	0.0:0.1058:0.0:0.8942	.	.	.	.	X	119;62	.	.	R	+	1	2	MSRB3	64133791	0.730000	0.28100	0.865000	0.33974	0.081000	0.17604	-0.295000	0.08298	-1.404000	0.02050	-0.229000	0.12294	CGA		0.448	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		20	24	0	0	0	1	0	20	24					T	65847524	C	T	65847524	2	4	474	1	0	0	0	0	0	0	0	1	9889	535	19	1		1	MSRB3	12	65847524	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		65847524	68004371	21	38878											
VEZT	55591	broad.mit.edu	37	chr12	95694120	95694120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgaaaactctctagaaGgtaaaaataaagataattct	6	4	2	3			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:95694120G>A	ENST00000436874.1	+	12	2116	c.2011G>A	c.(2011-2013)Ggt>Agt	p.G671S	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.G623S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	671					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						CTCTCTAGAAGGTAAAAATAA	0.353																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(2011-2013)Ggt>Agt		vezatin, adherens junctions transmembrane protein							40	38	38					12																	95694120		1848	4094	5942	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694120G>A	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.2011G>A	12.37:g.95694120G>A	ENSP00000410083:p.Gly671Ser					VEZT_ENST00000261219.6_Missense_Mutation_p.G623S|VEZT_ENST00000356859.4_3'UTR	p.G671S	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			12	2116	+			671					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.2011G>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274442	0.05679	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.14516	2.5;2.5;2.5	6.02	1.45	0.22620	.	0.702302	0.14885	N	0.292758	T	0.12390	0.0301	L	0.56769	1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.40728	T	0.16	-15.6591	4.8738	0.13646	0.2941:0.0:0.4566:0.2493	.	671	Q9HBM0	VEZA_HUMAN	S	671;623;627;671	ENSP00000410083:G671S;ENSP00000261219:G623S;ENSP00000380894:G627S	ENSP00000261219:G623S	G	+	1	0	VEZT	94218251	0.002000	0.14202	0.001000	0.08648	0.075000	0.17131	1.189000	0.32114	0.353000	0.24079	0.650000	0.86243	GGT		0.353	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		6	8	0	0	0	1	0	6	8					A	95694120	G	A	95694120	3	1	474	1	0	0	0	0	1	0	0	0	17153	1000	35	2	2057	2	VEZT	12	95694120	Missense_Mutation	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	29846596	95694120	38157775	22	38879											
C14orf105	55195	broad.mit.edu	37	chr14	57960220	57960220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtttacctgtagaatAtcttccataccagttttctt	4	8	2	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr14:57960220A>G	ENST00000216445.3	-	1	350	c.214T>C	c.(214-216)Tat>Cat	p.Y72H	C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	72										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTGTAGAATATCTTCCATAC	0.408																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(214-216)Tat>Cat		chromosome 14 open reading frame 105							108	106	107					14																	57960220		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57960220A>G	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.214T>C	14.37:g.57960220A>G	ENSP00000216445:p.Tyr72His					C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H	p.Y72H	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			1	350	-			72					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.214T>C	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	A	7.941	0.742684	0.15642	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.94	2.11	0.27256	.	0.664574	0.13903	N	0.354813	T	0.45357	0.1338	M	0.64997	1.995	0.09310	N	1	B;B;B	0.23650	0.089;0.02;0.02	B;B;B	0.27262	0.078;0.035;0.035	T	0.39461	-0.9613	10	0.34782	T	0.22	1.2112	4.0615	0.09841	0.5837:0.1734:0.2428:0.0	.	72;72;72	F5GWJ3;E9PSE9;Q9NVL8	.;.;CN105_HUMAN	H	72	ENSP00000216445:Y72H;ENSP00000392368:Y72H;ENSP00000434003:Y72H;ENSP00000436517:Y72H	ENSP00000216445:Y72H	Y	-	1	0	C14orf105	57029973	0.152000	0.22762	0.285000	0.24819	0.130000	0.20726	0.071000	0.14594	0.183000	0.20059	0.455000	0.32223	TAT		0.408	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		26	32	0	0	0	1	0	26	32					G	57960220	A	G	57960220	3	3	474	1	0	0	0	0	1	0	0	0	1737	449	16	3	700	3	C14orf105	14	57960220	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		57960220	49389320	23	38880											
MGA	23269	broad.mit.edu	37	chr15	42058595	42058595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagtgaagtcaaaggAttcttcatttcataaattaa	9	4	4	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:42058595A>C	ENST00000570161.1	+	23	8315	c.8315A>C	c.(8314-8316)gAt>gCt	p.D2772A	MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000389936.4_Missense_Mutation_p.D2733A|MGA_ENST00000219905.7_Missense_Mutation_p.D2772A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A			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)	AAGTCAAAGGATTCTTCATTT	0.378																																						ENST00000219905.7																			0				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						c.(8314-8316)gAt>gCt		MGA, MAX dimerization protein							55	51	52					15																	42058595		1862	4082	5944	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42058595A>C	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.8315A>C	15.37:g.42058595A>C	ENSP00000457035:p.Asp2772Ala					MGA_ENST00000389936.4_Missense_Mutation_p.D2733A|MGA_ENST00000570161.1_Missense_Mutation_p.D2772A|MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A	p.D2772A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		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)	24	8496	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2733					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.8315A>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673629	0.47781	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83591	-1.74;-1.73;-1.74	5.37	5.37	0.77165	.	0.679815	0.13093	N	0.414377	T	0.70937	0.3281	N	0.08118	0	0.22940	N	0.998532	B;B	0.20368	0.013;0.044	B;B	0.19391	0.025;0.024	T	0.64740	-0.6336	10	0.87932	D	0	.	14.1107	0.65120	1.0:0.0:0.0:0.0	.	2563;2772	F5H7K2;E7ENI0	.;.	A	2772;2733;2563	ENSP00000219905:D2772A;ENSP00000374586:D2733A;ENSP00000442467:D2563A	ENSP00000219905:D2772A	D	+	2	0	MGA	39845887	0.998000	0.40836	0.945000	0.38365	0.929000	0.56500	4.188000	0.58351	2.251000	0.74343	0.528000	0.53228	GAT		0.378	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		3	12	0	0	0	1	0	3	12					C	42058595	A	C	42058595	3	2	474	1	0	0	0	0	1	0	0	0	9540	333	12	5	8405	5	MGA	15	42058595	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		42058595	60472797	24	38881											
MYO5A	4644	broad.mit.edu	37	chr15	52668651	52668651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggatggtcttctggatccgGatgcaggcagctctcagttt	13	10	3	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:52668651G>A	ENST00000399231.3	-	19	2556	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	771	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		TCTGGATCCGGATGCAGGCAG	0.517																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2311-2313)atC>atT		myosin VA (heavy chain 12, myoxin)							76	72	73					15																	52668651		1912	4145	6057	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52668651G>A		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.2313C>T	15.37:g.52668651G>A						MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I	p.I771I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	19	2556	-			771			IQ 1.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.2313C>T	CCDS42037.1																																																																																				0.517	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	32	0	0	0	1	0	12	32					A	52668651	G	A	52668651	2	1	474	1	0	0	0	0	0	0	0	1	10078	1164	41	2		2	MYO5A	15	52668651	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	10610056	52668651	49862741	25	38882											
MYO15A	51168	broad.mit.edu	37	chr17	18025715	18025715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcggcccgccaagctggCggaacaaggtatggaggcac	16	11	0	0	rs554373246		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:18025715C>T	ENST00000205890.5	+	2	3939	c.3601C>T	c.(3601-3603)Cgg>Tgg	p.R1201W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1201					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)					GCCAAGCTGGCGGAACAAGGT	0.632																																						ENST00000205890.5																			0				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						c.(3601-3603)Cgg>Tgg		myosin XVA							31	36	34					17																	18025715		1978	4142	6120	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025715C>T	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.3601C>T	17.37:g.18025715C>T	ENSP00000205890:p.Arg1201Trp						p.R1201W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	3939	+	all_neural(463;0.228)		1201			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3601C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	13.40	2.224544	0.39300	.	.	ENSG00000091536	ENST00000205890	D	0.87809	-2.3	5.22	0.215	0.15253	.	.	.	.	.	T	0.57373	0.2049	N	0.00707	-1.245	0.53688	D	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.49184	-0.8966	9	0.37606	T	0.19	.	1.127	0.01737	0.3424:0.3385:0.1717:0.1474	.	1201	Q9UKN7	MYO15_HUMAN	W	1201	ENSP00000205890:R1201W	ENSP00000205890:R1201W	R	+	1	2	MYO15A	17966440	0.007000	0.16637	0.858000	0.33744	0.743000	0.42351	-0.262000	0.08682	0.411000	0.25702	0.561000	0.74099	CGG		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	22	0	0	0	1	0	11	22					T	18025715	C	T	18025715	3	4	474	1	0	0	0	0	1	0	0	0	10063	759	27	1	3603	1	MYO15A	17	18025715	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		18025715	63169495	26	38883											
ZNF652	22834	broad.mit.edu	37	chr17	47394244	47394244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctcactttccaggaCaaacttcttgccacatttat	6	12	2	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:47394244C>T	ENST00000362063.2	-	2	1162	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	282					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(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTTTCCAGGACAAACTTCTTG	0.453																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(844-846)Gtc>Atc		zinc finger protein 652							168	150	156					17																	47394244		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394244C>T	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"Zinc fingers, C2H2-type"	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.844G>A	17.37:g.47394244C>T	ENSP00000354686:p.Val282Ile					ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I	p.V282I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1162	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		282					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.844G>A	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383347	0.82792	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.28069	1.63;1.63	5.74	5.74	0.90152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	N	0.17764	0.52	0.80722	D	1	D	0.63046	0.992	D	0.79108	0.992	T	0.17107	-1.0380	10	0.28530	T	0.3	-12.0949	19.5308	0.95228	0.0:1.0:0.0:0.0	.	282	Q9Y2D9	ZN652_HUMAN	I	282	ENSP00000354686:V282I;ENSP00000416305:V282I	ENSP00000354686:V282I	V	-	1	0	ZNF652	44749243	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.084000	0.57650	2.715000	0.92844	0.655000	0.94253	GTC		0.453	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		24	50	0	0	0	1	0	24	50					T	47394244	C	T	47394244	3	4	474	1	0	0	0	0	1	0	0	0	18062	478	17	2	996	2	ZNF652	17	47394244	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	29368529	47394244	33800966	27	38884											
CIC	23152	broad.mit.edu	37	chr19	42798120	42798121	+	Frame_Shift_Ins	INS	-	-	T													aagtggacttcgaagagcgcINStttgctgagttgcctgagtt							TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:42798120_42798121insT	ENST00000575354.2	+	17	4114_4115	c.4074_4075insT	c.(4075-4077)tttfs	p.F1359fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.F2265fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.F1357fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1359					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)				TCGAAGAGCGCTTTGCTGAGTT	0.663			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(6790-6795)cgttgcfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42798120_42798121insT	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.4077dupT	19.37:g.42798123_42798123dupT	ENSP00000458663:p.Phe1359fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.C1357fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.C1359fs	p.C2265fs			Q96RK0	CIC_HUMAN			18	6860_6861	+		Prostate(69;0.00682)	1359					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.6792_6793insT	CCDS12601.1																																																																																				0.663	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	22						34	22	---	---	---	---	T	42798121	-	T	42798120	7	5	474	1	0	1	1	0	0	0	0	0	3424	784	28	0	4140	0	CIC	19	42798120	Frame_Shift_Ins	INS	-	TCGA-TM-A84O-01A-11D-A36O-08		42798120	16330863	28	38885											
ZNF350	59348	broad.mit.edu	37	chr19	52468457	52468457	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattctcttatgcttaaccaGacacgacatatacgcaaacg	5	11	1	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:52468457G>A	ENST00000243644.4	-	5	1476	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	417					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)		TGCTTAACCAGACACGACATA	0.468																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1249-1251)Ctg>Ttg		zinc finger protein 350							86	79	81					19																	52468457		2203	4300	6503	SO:0001819	synonymous_variant	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468457G>A	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.1249C>T	19.37:g.52468457G>A						HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.L417L	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1476	-		all_neural(266;0.0505)	417					Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	c.1249C>T	CCDS12845.1																																																																																				0.468	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		18	13	0	0	0	1	0	18	13					A	52468457	G	A	52468457	2	1	474	1	0	0	0	0	0	0	0	1	17860	933	33	2		2	ZNF350	19	52468457	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	9670337	52468457	6660526	29	38886											
ASXL1	171023	broad.mit.edu	37	chr20	31022401	31022402	+	Frame_Shift_Del	DEL	GT	GT	-													gcaggtccgaggggcgagagGtcaccactgccatagagagg							TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:31022401_31022402delGT	ENST00000375687.4	+	13	2310_2311	c.1886_1887delGT	c.(1885-1887)ggtfs	p.G629fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	629	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGGCGAGAGGTCACCACTGCC	0.698			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1885-1887)gfs		additional sex combs like 1 (Drosophila)																																				SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022401_31022402delGT	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1886_1887delGT	20.37:g.31022401_31022402delGT	ENSP00000364839:p.Gly629fs					ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs	p.G629fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2310_2311	+			629					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1886_1887delGT	CCDS13201.1																																																																																				0.698	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		10	11						10	11	---	---	---	---	-	31022402	GT	-	31022401	7	5	474	1	0	1	0	1	0	0	0	0	1066	1261	44	0	1942	0	ASXL1	20	31022401	Frame_Shift_Del	DEL	GT	TCGA-TM-A84O-01A-11D-A36O-08		31022401	32003119	30	38887											
STX16	8675	broad.mit.edu	37	chr20	57251288	57251288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgcttgtgattttaAtattatttgtcatcatcatt	7	4	3	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:57251288A>G	ENST00000371141.4	+	9	1643	c.919A>G	c.(919-921)Ata>Gta	p.I307V	STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.I286V|STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	307					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGTGATTTTAATATTATTTGT	0.433																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(919-921)Ata>Gta		syntaxin 16							254	241	245					20																	57251288		2203	4300	6503	SO:0001583	missense	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251288A>G	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.919A>G	20.37:g.57251288A>G	ENSP00000360183:p.Ile307Val					STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V|STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000371132.4_Missense_Mutation_p.I286V	p.I307V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1643	+	all_lung(29;0.0175)		307					A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	c.919A>G	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672494	0.29693	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T	0.50277	0.78;0.77;0.75;0.79;0.76;0.75	5.74	4.64	0.57946	.	.	.	.	.	T	0.40171	0.1106	N	0.17764	0.52	0.47778	D	0.999519	P;B;B;P	0.40970	0.734;0.0;0.0;0.734	P;B;B;P	0.50825	0.651;0.001;0.001;0.651	T	0.14811	-1.0459	9	0.07813	T	0.8	.	11.4477	0.50134	0.9292:0.0:0.0708:0.0	.	303;290;286;307	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	V	290;290;307;254;286;303;307;201;121	ENSP00000348229:I290V;ENSP00000355408:I290V;ENSP00000360183:I307V;ENSP00000360173:I286V;ENSP00000350723:I303V;ENSP00000354445:I307V	ENSP00000360180:I254V	I	+	1	0	STX16	56684694	1.000000	0.71417	0.113000	0.21522	0.998000	0.95712	3.608000	0.54109	1.097000	0.41459	0.460000	0.39030	ATA		0.433	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		17	42	0	0	0	1	0	17	42					G	57251288	A	G	57251288	3	3	474	1	0	0	0	0	1	0	0	0	15338	101	4	3	953	3	STX16	20	57251288	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08	26228887	57251288	5774232	31	38888											
RIPK4	54101	broad.mit.edu	37	chr21	43161344	43161344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgcagagcggtgtagCcgtctgaggtcatggcctcc	15	12	2	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr21:43161344C>T	ENST00000352483.2	-	9	2217	c.2153G>A	c.(2152-2154)gGc>gAc	p.G718D	RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	718					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						AGCGGTGTAGCCGTCTGAGGT	0.682																																						ENST00000352483.2																			0				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						c.(2152-2154)gGc>gAc		receptor-interacting serine-threonine kinase 4							51	54	53					21																	43161344		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161344C>T	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.2153G>A	21.37:g.43161344C>T	ENSP00000330161:p.Gly718Asp					RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D|AP001615.9_ENST00000423276.1_RNA	p.G718D			Q96T11	Q96T11_HUMAN			9	2217	-			670					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2153G>A		.	.	.	.	.	.	.	.	.	.	C	16.60	3.168967	0.57584	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000007	D	0.87317	0.6147	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87994	0.2751	10	0.38643	T	0.18	-40.9436	16.2192	0.82247	0.0:1.0:0.0:0.0	.	670	P57078-2	.	D	670;718;607;607	ENSP00000332454:G670D;ENSP00000330161:G718D;ENSP00000441754:G607D;ENSP00000442901:G607D	ENSP00000332454:G670D	G	-	2	0	RIPK4	42034413	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.484000	0.81180	2.049000	0.60858	0.561000	0.74099	GGC		0.682	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		20	45	0	0	0	1	0	20	45					T	43161344	C	T	43161344	3	4	474	1	0	0	0	0	1	0	0	0	13383	739	26	2	349	2	RIPK4	21	43161344	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		43161344	4968551	32	38889											
CCT8L2	150160	broad.mit.edu	37	chr22	17073351	17073351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgctcagcaggtggggCtcctcctcttctggactcct	11	14	3	0			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr22:17073351C>T	ENST00000359963.3	-	1	349	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	30					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGGTGGGGCTCCTCCTCTT	0.657																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(88-90)gaG>gaA		chaperonin containing TCP1, subunit 8 (theta)-like 2							55	60	58					22																	17073351		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073351C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.90G>A	22.37:g.17073351C>T							p.E30E	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	349	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	30					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.90G>A	CCDS13738.1																																																																																				0.657	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			14	22	0	0	0	1	0	14	22					T	17073351	C	T	17073351	2	4	474	1	0	0	0	0	0	0	0	1	2961	796	28	2		2	CCT8L2	22	17073351	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		17073351	34231215	33	38890											
FAM47B	170062	broad.mit.edu	37	chrX	34962775	34962775	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcctggcgtcattgaaaaGctgtttgccaagaagggatg	13	7	1	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chrX:34962775G>C	ENST00000329357.5	+	1	1863	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	609										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATTGAAAAGCTGTTTGCCA	0.438																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1825-1827)aaG>aaC		family with sequence similarity 47, member B							158	144	149					X																	34962775		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962775G>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1827G>C	X.37:g.34962775G>C	ENSP00000328307:p.Lys609Asn						p.K609N	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1863	+			609					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1827G>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126612	0.01770	.	.	ENSG00000189132	ENST00000329357	T	0.20598	2.06	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08714	0.0216	N	0.20685	0.6	0.09310	N	1	P	0.37276	0.589	B	0.32805	0.153	T	0.13442	-1.0509	8	0.34782	T	0.22	.	.	.	.	.	609	Q8NA70	FA47B_HUMAN	N	609	ENSP00000328307:K609N	ENSP00000328307:K609N	K	+	3	2	FAM47B	34872696	0.097000	0.21791	0.002000	0.10522	0.003000	0.03518	-0.546000	0.06062	-1.862000	0.01151	-1.891000	0.00535	AAG		0.438	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		49	86	0	0	0	1	0	49	86					C	34962775	G	C	34962775	3	2	474	1	0	0	0	0	1	0	0	0	5570	962	34	4	1829	4	FAM47B	23	34962775	Missense_Mutation	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		34962775	120307785	34	38891											
AMPD1	270	broad.mit.edu	37	chr1	115231190	115231190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaccacttacctcctggcTtctgtggaggtggacagagt	11	11	1	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115231190T>G	ENST00000520113.2	-	3	321	c.306A>C	c.(304-306)gaA>gaC	p.E102D	AMPD1_ENST00000369538.3_Missense_Mutation_p.E98D|AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	102					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	ACCTCCTGGCTTCTGTGGAGG	0.463																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(292-294)gaA>gaC		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						107	104	105					1																	115231190		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231190T>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.306A>C	1.37:g.115231190T>G	ENSP00000430075:p.Glu102Asp					AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D|AMPD1_ENST00000520113.2_Missense_Mutation_p.E102D	p.E98D	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		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)	2	341	-	all_epithelial(7;7.83e-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)	69					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.294A>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	8.237	0.806026	0.16467	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.42131	0.98;0.98;0.98	5.92	1.59	0.23543	.	1.922100	0.01988	N	0.045314	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.12066	-1.0562	10	0.13108	T	0.6	-2.1775	3.7604	0.08602	0.2067:0.2303:0.0:0.5629	.	98;69	Q5TF02;P23109	.;AMPD1_HUMAN	D	102;98;69	ENSP00000430075:E102D;ENSP00000358551:E98D;ENSP00000316520:E69D	ENSP00000316520:E69D	E	-	3	2	AMPD1	115032713	0.000000	0.05858	0.199000	0.23439	0.502000	0.33828	-0.388000	0.07352	0.002000	0.14630	0.533000	0.62120	GAA		0.463	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			8	84	0	0	0	1	0	8	84					G	115231190	T	G	115231190	3	3	475	1	0	0	0	0	1	0	0	0	585	1606	56	5	2092	5	AMPD1	1	115231190	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		115231190	134019431	1	38892											
CSDE1	7812	broad.mit.edu	37	chr1	115282476	115282476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattagggtacccattatgTccattgttgtggagaaggtt	11	7	0	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115282476T>C	ENST00000358528.4	-	3	462	c.36A>G	c.(34-36)ggA>ggG	p.G12G	CSDE1_ENST00000534699.1_Silent_p.G12G|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000438362.2_Silent_p.G58G|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000339438.6_Silent_p.G12G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	12					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)		ACCCATTATGTCCATTGTTGT	0.368																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(172-174)ggA>ggG		cold shock domain containing E1, RNA-binding							292	298	296					1																	115282476		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282476T>C		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.36A>G	1.37:g.115282476T>C						CSDE1_ENST00000358528.4_Silent_p.G12G|CSDE1_ENST00000534699.1_Silent_p.G12G|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000339438.6_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000530886.1_Intron	p.G58G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		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)	3	552	-	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)	12			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.174A>G	CCDS30812.1																																																																																				0.368	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		13	314	0	0	0	1	0	13	314					C	115282476	T	C	115282476	2	2	475	1	0	0	0	0	0	0	0	1	3929	1654	58	3		3	CSDE1	1	115282476	Silent	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08	51286	115282476	133968145	2	38893											
HSD3B1	3283	broad.mit.edu	37	chr1	120056459	120056459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgctcttcatggacaggtAcccagctcctgttagaggcc	10	12	2	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:120056459A>G	ENST00000369413.3	+	4	458	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	HSD3B1_ENST00000235547.6_Missense_Mutation_p.T107A|HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	105					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ATGGACAGGTACCCAGCTCCT	0.507																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(319-321)Acc>Gcc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						222	223	223					1																	120056459		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056459A>G	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.313A>G	1.37:g.120056459A>G	ENSP00000358421:p.Thr105Ala					HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A|HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105A	p.T107A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	458	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	105					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.319A>G	CCDS903.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965470	0.53507	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.92595	-3.07;-3.07;-3.07	3.7	3.7	0.42460	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.89478	3.035	0.58432	D	0.999998	P;B	0.38370	0.628;0.418	P;B	0.47827	0.558;0.369	D	0.93986	0.7262	10	0.72032	D	0.01	-9.9756	10.6104	0.45419	1.0:0.0:0.0:0.0	.	107;105	Q5TDG2;P14060	.;3BHS1_HUMAN	A	105;107;105	ENSP00000358421:T105A;ENSP00000235547:T107A;ENSP00000432268:T105A	ENSP00000235547:T107A	T	+	1	0	HSD3B1	119857982	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.446000	0.90329	1.652000	0.50683	0.402000	0.26972	ACC		0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		5	292	0	0	0	1	0	5	292					G	120056459	A	G	120056459	3	3	475	1	0	0	0	0	1	0	0	0	7390	391	14	3	323	3	HSD3B1	1	120056459	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08	4773983	120056459	129194162	3	38894											
PGLYRP4	57115	broad.mit.edu	37	chr1	153317725	153317725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgcagactgtctgGtcgtgacactccagtccagg	12	13	2	2	rs370345526		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:153317725G>T	ENST00000359650.5	-	4	337	c.273C>A	c.(271-273)gaC>gaA	p.D91E	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D87E|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	91					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)			AGACTGTCTGGTCGTGACACT	0.562																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(259-261)gaC>gaA		peptidoglycan recognition protein 4		G	GLU/ASP	0,4406		0,0,2203	116	101	106		273	-1.1	0	1		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGLYRP4	NM_020393.2	45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	91/374	153317725	1,13005	2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317725G>T	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.273C>A	1.37:g.153317725G>T	ENSP00000352672:p.Asp91Glu					PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D91E	p.D87E			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	619	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		91					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.261C>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.976347	0.00452	0.0	1.16E-4	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23348	1.91;1.91	3.2	-1.11	0.09840	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	.	.	.	.	T	0.02230	0.0069	N	0.05050	-0.12	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.004;0.007	T	0.46803	-0.9165	9	0.05833	T	0.94	-11.1318	6.2938	0.21075	0.5145:0.0:0.4855:0.0	.	87;91	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	E	87;91	ENSP00000357728:D87E;ENSP00000352672:D91E	ENSP00000352672:D91E	D	-	3	2	PGLYRP4	151584349	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.048000	0.14078	-0.079000	0.12707	-0.671000	0.03813	GAC		0.562	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		15	29	1	0	0.000219431	1	0.000232866	15	29					T	153317725	G	T	153317725	3	4	475	1	0	0	0	0	1	0	0	0	11796	1252	44	4	872	4	PGLYRP4	1	153317725	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	33261266	153317725	95932896	4	38895											
HMCN1	83872	broad.mit.edu	37	chr1	186057402	186057402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggttaaagaaccacaagCgcataggtaaggcaaccatg	10	9	0	1	rs200605337		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:186057402C>T	ENST00000271588.4	+	62	9800	c.9571C>T	c.(9571-9573)Cgc>Tgc	p.R3191C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3191	Ig-like C2-type 30.				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						GAACCACAAGCGCATAGGTAA	0.418																																						ENST00000271588.4																			0				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						c.(9571-9573)Cgc>Tgc		hemicentin 1							92	80	84					1																	186057402		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057402C>T	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.9571C>T	1.37:g.186057402C>T	ENSP00000271588:p.Arg3191Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			62	9800	+			3191			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9571C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825503	0.50739	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.211137	0.50627	D	0.000114	T	0.75635	0.3876	M	0.73430	2.235	0.33219	D	0.554479	D	0.59767	0.986	P	0.49301	0.606	D	0.83367	0.0005	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	3191	Q96RW7	HMCN1_HUMAN	C	3191	ENSP00000271588:R3191C;ENSP00000356462:R3191C	ENSP00000271588:R3191C	R	+	1	0	HMCN1	184324025	0.197000	0.23362	0.993000	0.49108	0.050000	0.14768	0.944000	0.29043	2.644000	0.89710	0.563000	0.77884	CGC		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		23	28	0	0	0	1	0	23	28					T	186057402	C	T	186057402	3	4	475	1	0	0	0	0	1	0	0	0	7220	768	27	1	9817	1	HMCN1	1	186057402	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	32739677	186057402	63193219	5	38896											
KDM5B	10765	broad.mit.edu	37	chr1	202727567	202727567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacgcatctgccatttcCccaaaagtacggagggtata	9	10	1	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:202727567C>A	ENST00000367265.3	-	9	2313	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	KDM5B_ENST00000367264.2_Silent_p.G419G|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	383					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						CTGCCATTTCCCCAAAAGTAC	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1147-1149)ggG>ggT		lysine (K)-specific demethylase 5B							121	103	109					1																	202727567		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202727567C>A	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.1149G>T	1.37:g.202727567C>A						KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Silent_p.G419G	p.G383G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			9	2313	-			383					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.1149G>T	CCDS30974.1																																																																																				0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		11	21	1	0	0.00010058	1	0.000108962	11	21					A	202727567	C	A	202727567	2	1	475	1	0	0	0	0	0	0	0	1	8134	610	22	4		4	KDM5B	1	202727567	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	16670165	202727567	46523054	6	38897											
C4BPA	722	broad.mit.edu	37	chr1	207288791	207288791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacccaggagagttacGtaatgggcaagtagagatta	12	7	0	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:207288791G>A	ENST00000367070.3	+	4	553	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	120	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAGAGTTACGTAATGGGCAA	0.363																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(358-360)cGt>cAt		complement component 4 binding protein, alpha							102	100	101					1																	207288791		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207288791G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.359G>A	1.37:g.207288791G>A	ENSP00000356037:p.Arg120His						p.R120H	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			4	553	+			120			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.359G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719741	0.15372	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.64991	-0.13;-0.13	5.14	-5.75	0.02384	Complement control module (2);Sushi/SCR/CCP (3);	2.212360	0.01613	N	0.022602	T	0.36880	0.0983	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12293	-1.0553	10	0.41790	T	0.15	.	1.3062	0.02089	0.3714:0.145:0.3095:0.174	.	120	P04003	C4BPA_HUMAN	H	120	ENSP00000356037:R120H;ENSP00000403386:R120H	ENSP00000356037:R120H	R	+	2	0	C4BPA	205355414	0.000000	0.05858	0.057000	0.19452	0.196000	0.23810	-1.063000	0.03465	-0.613000	0.05694	-0.204000	0.12730	CGT		0.363	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			13	20	0	0	0	1	0	13	20					A	207288791	G	A	207288791	3	1	475	1	0	0	0	0	1	0	0	0	2249	1145	40	1	369	1	C4BPA	1	207288791	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	4561224	207288791	41961830	7	38898											
HHIPL2	79802	broad.mit.edu	37	chr1	222715496	222715496	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaatctccaagatgaCcctggaagagaaaaaagaaa	7	8	3	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:222715496C>G	ENST00000343410.6	-	3	1034	c.976G>C	c.(976-978)Gtc>Ctc	p.V326L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	326					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)		TCCAAGATGACCCTGGAAGAG	0.473																																						ENST00000343410.6																			0				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						c.e3-1		HHIP-like 2							59	56	57					1																	222715496		2203	4300	6503	SO:0001630	splice_region_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222715496C>G	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.975-1G>C	1.37:g.222715496C>G							p.V326_splice	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	3	1034	-			326					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Splice_Site	SNP	ENST00000343410.6	37	c.974_splice	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346934	0.24426	.	.	ENSG00000143512	ENST00000343410	T	0.10668	2.85	5.59	1.56	0.23342	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.681506	0.14838	N	0.295444	T	0.12603	0.0306	M	0.69463	2.115	0.25655	N	0.986065	B	0.22146	0.065	B	0.31614	0.133	T	0.27806	-1.0063	10	0.40728	T	0.16	-18.3581	4.2155	0.10531	0.0:0.3454:0.3167:0.3379	.	326	Q6UWX4	HIPL2_HUMAN	L	326	ENSP00000342118:V326L	ENSP00000342118:V326L	V	-	1	0	HHIPL2	220782119	0.981000	0.34729	0.988000	0.46212	0.369000	0.29798	0.394000	0.20834	0.286000	0.22352	0.585000	0.79938	GTC		0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Missense_Mutation	4	44	0	0	0	1	0	4	44					G	222715496	C	G	222715496	5	3	475	1	0	0	0	0	0	0	1	0	7094	521	18	4	1226	4	HHIPL2	1	222715496	Splice_Site	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	15426705	222715496	26535125	8	38899											
GEN1	348654	broad.mit.edu	37	chr2	17954555	17954557	+	In_Frame_Del	DEL	TTA	TTA	-													ggtaccaaagacctgatttgTtattgtttcaggtatctgaa							TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:17954555_17954557delTTA	ENST00000381254.2	+	10	1274_1276	c.1060_1062delTTA	c.(1060-1062)ttadel	p.L355del	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_In_Frame_Del_p.L355del	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	355					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGATTTGTTATTGTTTCAGG	0.32								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1060-1062)del	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease																																				SO:0001651	inframe_deletion	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17954555_17954557delTTA	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1060_1062delTTA	2.37:g.17954555_17954557delTTA	ENSP00000370653:p.Leu355del					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_In_Frame_Del_p.L355del	p.L355del	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			10	1274_1276	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		355					Q17RS9|Q6ZN37	In_Frame_Del	DEL	ENST00000381254.2	37	c.1060_1062delTTA	CCDS1691.1																																																																																				0.32	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		14	43						14	43	---	---	---	---	-	17954557	TTA	-	17954555	7	5	475	1	0	1	0	1	0	0	0	0	6335	1722	60	0	1094	0	GEN1	2	17954555	In_Frame_Del	DEL	TTA	TCGA-TM-A84Q-01A-11D-A36O-08		17954555	225244818	9	38900											
FAP	2191	broad.mit.edu	37	chr2	163030247	163030247	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acttaccttatagtgctcaaGattatcatcctttgttggga	7	8	2	1	rs369985168		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:163030247G>C	ENST00000188790.4	-	23	2227	c.2020C>G	c.(2020-2022)Ctt>Gtt	p.L674V	FAP_ENST00000443424.1_Missense_Mutation_p.L649V|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAGTGCTCAAGATTATCATCC	0.299																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(2020-2022)Ctt>Gtt		fibroblast activation protein, alpha							148	156	154					2																	163030247		2203	4298	6501	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163030247G>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2020C>G	2.37:g.163030247G>C	ENSP00000188790:p.Leu674Val					FAP_ENST00000443424.1_Missense_Mutation_p.L649V	p.L674V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			23	2227	-			674						Missense_Mutation	SNP	ENST00000188790.4	37	c.2020C>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825824	0.32237	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.30714	1.52;1.52	5.17	5.17	0.71159	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.067344	0.64402	D	0.000010	T	0.37598	0.1009	L	0.46819	1.47	0.49915	D	0.999833	P;B;P	0.43094	0.621;0.412;0.799	P;B;P	0.48873	0.593;0.05;0.572	T	0.03364	-1.1044	10	0.12103	T	0.63	-15.263	19.0333	0.92967	0.0:0.0:1.0:0.0	.	649;153;674	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	V	674;649	ENSP00000188790:L674V;ENSP00000411391:L649V	ENSP00000188790:L674V	L	-	1	0	FAP	162738493	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.538000	0.67193	2.591000	0.87537	0.655000	0.94253	CTT		0.299	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			6	134	0	0	0	1	0	6	134					C	163030247	G	C	163030247	3	2	475	1	0	0	0	0	1	0	0	0	5673	942	33	4	278	4	FAP	2	163030247	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	145075692	163030247	80169126	10	38901											
TTC30B	150737	broad.mit.edu	37	chr2	178417043	178417043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcggtctcattctcgCccccactttcctctccccct	5	21	3	0			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:178417043C>A	ENST00000408939.3	-	1	699	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	150					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATTCTCGCCCCCACTTTC	0.587																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(448-450)gGc>gTc		tetratricopeptide repeat domain 30B							198	219	212					2																	178417043		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178417043C>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.449G>T	2.37:g.178417043C>A	ENSP00000386181:p.Gly150Val						p.G150V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	699	-			150					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.449G>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449917	0.01080	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.78595	-1.19	4.51	3.63	0.41609	.	0.203127	0.34932	N	0.003574	T	0.55114	0.1900	N	0.08118	0	0.21499	N	0.999665	B	0.16166	0.016	B	0.10450	0.005	T	0.40175	-0.9577	10	0.23302	T	0.38	.	8.9195	0.35604	0.0:0.6109:0.3071:0.082	.	150	Q8N4P2	TT30B_HUMAN	V	103;150	ENSP00000386181:G150V	ENSP00000386181:G150V	G	-	2	0	TTC30B	178125289	0.017000	0.18338	0.017000	0.16124	0.186000	0.23388	-0.229000	0.09098	1.237000	0.43756	-0.150000	0.13652	GGC		0.587	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		5	208	1	0	0.0293803	1	0.0293803	5	208					A	178417043	C	A	178417043	3	1	475	1	0	0	0	0	1	0	0	0	16696	739	26	4	1552	4	TTC30B	2	178417043	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	15386796	178417043	64782330	11	38902											
TTN	7273	broad.mit.edu	37	chr2	179440628	179440628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtcatgacaaatttacCggtatcatatctgttacatt	6	7	3	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:179440628C>T	ENST00000591111.1	-	276	65532	c.65308G>A	c.(65308-65310)Ggt>Agt	p.G21770S	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23411S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21770	Ig-like 114.				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)			ACAAATTTACCGGTATCATAT	0.448																																						ENST00000589042.1																			0				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						c.(70231-70233)Ggt>Agt		titin							128	137	134					2																	179440628		1938	4150	6088	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440628C>T	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.65308G>A	2.37:g.179440628C>T	ENSP00000465570:p.Gly21770Ser					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21770S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.G23411S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70455	-			21770			Fibronectin type-III 70.		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	ENST00000591111.1	37	c.70231G>A		.	.	.	.	.	.	.	.	.	.	C	14.33	2.502367	0.44455	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.76	4.87	0.63330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90728	0.7090	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67103	0.949;0.949;0.949;0.927	D	0.93379	0.6742	9	0.87932	D	0	.	17.0297	0.86457	0.0:0.873:0.127:0.0	.	14346;14471;14538;21770	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20843;14346;14538;14471;14344	ENSP00000343764:G20843S;ENSP00000434586:G14346S;ENSP00000340554:G14538S;ENSP00000352154:G14471S	ENSP00000340554:G14538S	G	-	1	0	TTN	179148874	1.000000	0.71417	0.697000	0.30258	0.933000	0.57130	7.818000	0.86416	1.426000	0.47256	0.655000	0.94253	GGT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	119	0	0	0	1	0	50	119					T	179440628	C	T	179440628	3	4	475	1	0	0	0	0	1	0	0	0	16732	652	23	1	37896	1	TTN	2	179440628	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	1023585	179440628	63758745	12	38903											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	31	0	0	0	1	0	34	31					T	209113112	C	T	209113112	3	4	475	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	29672484	209113112	34086261	13	38904											
FLNB	2317	broad.mit.edu	37	chr3	58139287	58139287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagccccttccagttcaccGtggggccacttggtgaagga	13	13	1	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:58139287G>A	ENST00000295956.4	+	39	6718	c.6553G>A	c.(6553-6555)Gtg>Atg	p.V2185M	FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				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)		CCAGTTCACCGTGGGGCCACT	0.667																																						ENST00000295956.4																			0				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						c.(6553-6555)Gtg>Atg		filamin B, beta							37	40	39					3																	58139287		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58139287G>A	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.6553G>A	3.37:g.58139287G>A	ENSP00000295956:p.Val2185Met					FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M	p.V2185M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	39	6718	+			2185			Interaction with FLNA 1.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6553G>A	CCDS2885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.305027|5.305027	0.95601|0.95601	.|.	.|.	ENSG00000136068|ENSG00000136068	ENST00000466455|ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	.|T;T;T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84497|0.84497	0.5485|0.5485	H|H	0.95114|0.95114	3.625|3.625	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;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0;0.999;0.999	D|D	0.88169|0.88169	0.2863|0.2863	5|10	.|0.87932	.|D	.|0	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2161;2216;1992;2005;2174;2185	.|O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.|.;.;.;.;.;FLNB_HUMAN	H|M	108|2185;2216;2161;2174;2144;1992;2005	.|ENSP00000295956:V2185M;ENSP00000420213:V2216M;ENSP00000351339:V2161M;ENSP00000415599:V2174M;ENSP00000232447:V2144M;ENSP00000418510:V1992M;ENSP00000414532:V2005M	.|ENSP00000295956:V2185M	R|V	+|+	2|1	0|0	FLNB|FLNB	58114327|58114327	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.792000|0.792000	0.44763|0.44763	9.869000|9.869000	0.99810|0.99810	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.667	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		6	35	0	0	0	1	0	6	35					A	58139287	G	A	58139287	3	1	475	1	0	0	0	0	1	0	0	0	5934	1145	40	1	6804	1	FLNB	3	58139287	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		58139287	139883143	14	38905											
TDO2	6999	broad.mit.edu	37	chr4	156828909	156828909	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcaaatcctctgggagTtggattctgttcgagagatc	11	7	2	1	rs546231457		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr4:156828909T>A	ENST00000536354.2	+	4	332	c.268T>A	c.(268-270)Ttg>Atg	p.L90M		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CCTCTGGGAGTTGGATTCTGT	0.338																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(268-270)Ttg>Atg		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						138	138	138					4																	156828909		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156828909T>A		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.268T>A	4.37:g.156828909T>A	ENSP00000444788:p.Leu90Met						p.L90M	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	4	332	+	all_hematologic(180;0.24)	Renal(120;0.0854)	90						Missense_Mutation	SNP	ENST00000536354.2	37	c.268T>A	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824690	0.50739	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.98	0.841	0.18918	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.80028	2.48	0.52099	D	0.999949	P	0.45902	0.868	P	0.44359	0.447	T	0.56547	-0.7961	9	0.66056	D	0.02	-18.5496	6.7915	0.23701	0.1154:0.3968:0.0:0.4878	.	90	P48775	T23O_HUMAN	M	90	.	ENSP00000281525:L90M	L	+	1	2	TDO2	157048359	0.996000	0.38824	0.872000	0.34217	0.987000	0.75469	0.435000	0.21510	-0.061000	0.13110	-0.417000	0.06048	TTG		0.338	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		8	57	0	0	0	1	0	8	57					A	156828909	T	A	156828909	3	1	475	1	0	0	0	0	1	0	0	0	15724	1722	60	5	282	5	TDO2	4	156828909	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		156828909	34325367	15	38906											
F2RL1	2150	broad.mit.edu	37	chr5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacccttaacagctgcatcGacccctttgtctattacttt	4	14	1	0			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1018-1020)Gac>Aac		coagulation factor II (thrombin) receptor-like 1							370	362	365					5																	76129450		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129450G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1018G>A	5.37:g.76129450G>A	ENSP00000296677:p.Asp340Asn						p.D340N	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1224	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	340					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1018G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	F2RL1	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC		0.473	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			30	332	0	0	0	1	0	30	332					A	76129450	G	A	76129450	3	1	475	1	0	0	0	0	1	0	0	0	5344	1058	37	1	1024	1	F2RL1	5	76129450	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		76129450	104785810	16	38907											
DIAPH1	1729	broad.mit.edu	37	chr5	140960428	140960428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggattccttcttctgtcTccaacatggtcttgattcca	7	11	4	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:140960428T>C	ENST00000398557.4	-	8	847	c.707A>G	c.(706-708)gAg>gGg	p.E236G	DIAPH1_ENST00000253811.6_Missense_Mutation_p.E236G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	236	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTGTCTCCAACATGGT	0.453																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(706-708)gAg>gGg		diaphanous-related formin 1							81	77	78					5																	140960428		1913	4125	6038	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140960428T>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.707A>G	5.37:g.140960428T>C	ENSP00000381565:p.Glu236Gly					DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G	p.E236G			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	847	-			236			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.707A>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.369971	0.24771	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.53	5.53	0.82687	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.152448	0.41500	D	0.000872	T	0.75708	0.3886	N	0.12746	0.255	0.37625	D	0.92146	B;B	0.29432	0.202;0.244	B;B	0.36289	0.169;0.221	T	0.72523	-0.4267	10	0.12430	T	0.62	.	9.2156	0.37344	0.0:0.0824:0.0:0.9176	.	227;236	E9PEZ2;O60610	.;DIAP1_HUMAN	G	236;182;227;227;227;236;236;227	ENSP00000373706:E236G;ENSP00000429282:E182G;ENSP00000381570:E227G;ENSP00000373709:E227G;ENSP00000381572:E227G;ENSP00000381565:E236G;ENSP00000253811:E236G;ENSP00000428268:E227G	ENSP00000253811:E236G	E	-	2	0	DIAPH1	140940612	0.992000	0.36948	0.990000	0.47175	0.944000	0.59088	1.851000	0.39338	2.107000	0.64212	0.454000	0.30748	GAG		0.453	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		11	20	0	0	0	1	0	11	20					C	140960428	T	C	140960428	3	2	475	1	0	0	0	0	1	0	0	0	4518	1551	54	3	3195	3	DIAPH1	5	140960428	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08	64830978	140960428	39954832	17	38908											
ITPR3	3710	broad.mit.edu	37	chr6	33638466	33638466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctatgattccaacctcaaCgcgtcccgagatgacaagaa	8	12	1	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr6:33638466C>T	ENST00000374316.5	+	21	3520	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	ITPR3_ENST00000605930.1_Silent_p.N820N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	820					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)	CCAACCTCAACGCGTCCCGAG	0.587																																						ENST00000374316.5																			0				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						c.(2458-2460)aaC>aaT		inositol 1,4,5-trisphosphate receptor, type 3							135	108	117					6																	33638466		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33638466C>T	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.2460C>T	6.37:g.33638466C>T						ITPR3_ENST00000605930.1_Silent_p.N820N	p.N820N			Q14573	ITPR3_HUMAN			21	3520	+			820					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.2460C>T	CCDS4783.1																																																																																				0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	33	0	0	0	1	0	4	33					T	33638466	C	T	33638466	2	4	475	1	0	0	0	0	0	0	0	1	7922	535	19	1		1	ITPR3	6	33638466	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		33638466	137476601	18	38909											
C7orf31	136895	broad.mit.edu	37	chr7	25194757	25194757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtggggaacatggcgccGcgacagatgtgtgtgtggta	18	6	0	1	rs375479092		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:25194757G>A	ENST00000409280.1	-	6	776	c.468C>T	c.(466-468)cgC>cgT	p.R156R	C7orf31_ENST00000283905.3_Silent_p.R156R			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	156										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ACATGGCGCCGCGACAGATGT	0.502																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(466-468)cgC>cgT		chromosome 7 open reading frame 31		G		0,4406		0,0,2203	122	128	126		468	-10.9	0	7		126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C7orf31	NM_138811.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		156/591	25194757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	136895							g.chr7:25194757G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.468C>T	7.37:g.25194757G>A						C7orf31_ENST00000283905.3_Silent_p.R156R	p.R156R			Q8N865	CG031_HUMAN			6	776	-			156					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	ENST00000409280.1	37	c.468C>T	CCDS5394.1																																																																																				0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		6	43	0	0	0	1	0	6	43					A	25194757	G	A	25194757	2	1	475	1	0	0	0	0	0	0	0	1	2387	1074	38	1		1	C7orf31	7	25194757	Silent	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		25194757	133943906	19	38910											
ZNF479	90827	broad.mit.edu	37	chr7	57188689	57188689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgacaaacattggttaaCttcactataacctcccttgt	5	10	1	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:57188689C>T	ENST00000331162.4	-	5	703	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	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)			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)			CATTGGTTAACTTCACTATAA	0.313																																						ENST00000331162.4																			0				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						c.(433-435)Gtt>Att		zinc finger protein 479							101	93	96					7																	57188689		1860	4116	5976	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188689C>T	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.433G>A	7.37:g.57188689C>T	ENSP00000333776:p.Val145Ile						p.V145I	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	703	-			145						Missense_Mutation	SNP	ENST00000331162.4	37	c.433G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	2.517	-0.311611	0.05422	.	.	ENSG00000185177	ENST00000331162	T	0.48201	0.82	1.29	-2.58	0.06228	.	.	.	.	.	T	0.24699	0.0599	N	0.20986	0.625	0.09310	N	1	B	0.34372	0.451	B	0.30179	0.112	T	0.06356	-1.0831	9	0.37606	T	0.19	.	2.8886	0.05669	0.4324:0.2542:0.3134:0.0	.	145	Q96JC4	ZN479_HUMAN	I	145	ENSP00000333776:V145I	ENSP00000333776:V145I	V	-	1	0	ZNF479	57192631	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.077000	0.03416	-1.682000	0.01446	-1.934000	0.00508	GTT		0.313	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		42	72	0	0	0	1	0	42	72					T	57188689	C	T	57188689	3	4	475	1	0	0	0	0	1	0	0	0	17930	565	20	2	1145	2	ZNF479	7	57188689	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	31993932	57188689	101949974	20	38911											
GRM3	2913	broad.mit.edu	37	chr7	86415600	86415600	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gcaaacctgctgcggctcttCcagatccctcagatcagcta	8	15	3	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:86415600C>G	ENST00000361669.2	+	3	1591	c.492C>G	c.(490-492)ttC>ttG	p.F164L	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.F164L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	164					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)					TGCGGCTCTTCCAGATCCCTC	0.527																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				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						c.(490-492)ttC>ttG		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						147	158	155					7																	86415600		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415600C>G		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.492C>G	7.37:g.86415600C>G	ENSP00000355316:p.Phe164Leu					AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|GRM3_ENST00000439827.1_Missense_Mutation_p.F164L	p.F164L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1591	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		164					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.492C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794199	0.70452	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.68	3.89	0.44902	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.79011	2.435	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	0.91444	0.5176	10	0.87932	D	0	.	12.1129	0.53850	0.0:0.8776:0.0:0.1224	.	36;164;164	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	L	164;36;36;164;162	ENSP00000355316:F164L;ENSP00000405427:F36L;ENSP00000441407:F36L;ENSP00000398767:F164L;ENSP00000378209:F162L	ENSP00000355316:F164L	F	+	3	2	GRM3	86253536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.602000	0.36783	0.776000	0.33473	0.655000	0.94253	TTC		0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			41	86	0	0	0	1	0	41	86					G	86415600	C	G	86415600	3	3	475	1	0	0	0	0	1	0	0	0	6798	854	30	4	498	4	GRM3	7	86415600	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	29226911	86415600	72723063	21	38912											
WAC	51322	broad.mit.edu	37	chr10	28906646	28906646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatgtccgaaatttgtActgaattaaaaaatttaaga	5	5	1	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr10:28906646A>G	ENST00000354911.4	+	13	1968	c.1807A>G	c.(1807-1809)Act>Gct	p.T603A	WAC_ENST00000375646.1_Missense_Mutation_p.T451A|WAC_ENST00000375664.4_Missense_Mutation_p.T558A|WAC_ENST00000347934.4_Missense_Mutation_p.T500A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	603					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						CGAAATTTGTACTGAATTAAA	0.303																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1672-1674)Act>Gct		WW domain containing adaptor with coiled-coil							35	38	37					10																	28906646		2203	4299	6502	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28906646A>G	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.1807A>G	10.37:g.28906646A>G	ENSP00000346986:p.Thr603Ala					WAC_ENST00000347934.4_Missense_Mutation_p.T500A|WAC_ENST00000375646.1_Missense_Mutation_p.T451A|WAC_ENST00000354911.4_Missense_Mutation_p.T603A	p.T558A			Q9BTA9	WAC_HUMAN			13	2281	+			603					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1672A>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746206	0.49257	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	N	0.17082	0.46	0.80722	D	1	D;B;D	0.61697	0.99;0.379;0.984	D;B;D	0.73380	0.98;0.298;0.956	T	0.30446	-0.9978	10	0.10636	T	0.68	-14.3658	15.7247	0.77747	1.0:0.0:0.0:0.0	.	558;500;603	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	558;451;500;603	ENSP00000364816:T558A;ENSP00000364797:T451A;ENSP00000311106:T500A;ENSP00000346986:T603A	ENSP00000311106:T500A	T	+	1	0	WAC	28946652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.116000	0.64780	0.533000	0.62120	ACT		0.303	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		37	39	0	0	0	1	0	37	39					G	28906646	A	G	28906646	3	3	475	1	0	0	0	0	1	0	0	0	17244	391	14	3	1857	3	WAC	10	28906646	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08		28906646	106628101	22	38913											
TNNT3	7140	broad.mit.edu	37	chr11	1944796	1944796	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaatgcagagcagtacgaaGaagaaggtaattctggcaac	11	8	1	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:1944796G>A	ENST00000397301.1	+	3	51	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000381558.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K|TNNT3_ENST00000397304.2_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	15					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGTACGAAGAAGAAGGTAA	0.612																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(43-45)Gaa>Aaa		troponin T type 3 (skeletal, fast)							158	120	133					11																	1944796		2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1944796G>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	600692	"troponin T3, skeletal, fast"			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.43G>A	11.37:g.1944796G>A	ENSP00000380468:p.Glu15Lys					TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000397301.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K	p.E15K			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	4	322	+		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)	15					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	.	11.36	1.617003	0.28801	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301	T;D;T;D;D;D;D;D;D;D;D;D	0.99660	2.68;-6.32;2.73;-6.32;-6.32;-6.32;-6.32;-5.2;-6.32;-6.32;-6.32;-6.32	3.5	2.57	0.30868	.	0.556413	0.17281	N	0.180015	D	0.97885	0.9305	.	.	.	0.36478	D	0.867669	B;B;B;B;B	0.14805	0.011;0.011;0.011;0.011;0.007	B;B;B;B;B	0.16289	0.015;0.003;0.003;0.003;0.001	D	0.99222	1.0879	9	0.34782	T	0.22	-15.9628	7.2149	0.25955	0.1276:0.0:0.8724:0.0	.	15;15;15;15;15	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	K	15	ENSP00000278317:E15K;ENSP00000370973:E15K;ENSP00000370960:E15K;ENSP00000353815:E15K;ENSP00000370961:E15K;ENSP00000371001:E15K;ENSP00000370991:E15K;ENSP00000415614:E15K;ENSP00000370975:E15K;ENSP00000344870:E15K;ENSP00000370970:E15K;ENSP00000380468:E15K	ENSP00000278317:E15K	E	+	1	0	TNNT3	1901372	1.000000	0.71417	0.985000	0.45067	0.213000	0.24496	2.403000	0.44530	0.814000	0.34374	0.491000	0.48974	GAA		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		14	31	0	0	0	1	0	14	31					A	1944796	G	A	1944796	3	1	475	1	0	0	0	0	1	0	0	0	16329	943	33	2	53	2	TNNT3	11	1944796	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		1944796	133061720	23	38914											
TRIM34	53840	broad.mit.edu	37	chr11	5655971	5655971	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agattggaagaagaagaaaaGaagacgctggataagtttgc	13	3	0	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5655971G>C	ENST00000514226.1	+	4	967	c.630G>C	c.(628-630)aaG>aaC	p.K210N	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K564N|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	210					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAGAAAAGAAGACGCTGG	0.443																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1690-1692)aaG>aaC									95	89	91					11																	5655971		2201	4297	6498	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr11:5655971G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.630G>C	11.37:g.5655971G>C	ENSP00000422947:p.Lys210Asn					TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.K210N|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	p.K564N	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	10	1865	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	564					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1692G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943378	0.34283	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	3.78	2.87	0.33458	.	0.723638	0.11360	N	0.572035	T	0.14960	0.0361	M	0.69823	2.125	0.09310	N	1	P;B;P	0.51653	0.947;0.389;0.882	P;B;P	0.53450	0.726;0.25;0.601	T	0.09930	-1.0652	10	0.42905	T	0.14	.	7.5142	0.27592	0.1174:0.0:0.8826:0.0	.	210;210;564	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	N	564;210;210;210;564	ENSP00000422947:K210N;ENSP00000402595:K210N;ENSP00000395982:K210N;ENSP00000346916:K564N	ENSP00000402595:K210N	K	+	3	2	TRIM34;TRIM6-TRIM34	5612547	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	0.202000	0.17295	1.177000	0.42855	0.655000	0.94253	AAG		0.443	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		3	48	0	0	0	1	0	3	48					C	5655971	G	C	5655971	3	2	475	1	0	0	0	0	1	0	0	0	16505	933	33	4	640	4	TRIM34	11	5655971	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	3711175	5655971	129350545	24	38915											
TRIM22	10346	broad.mit.edu	37	chr11	5719736	5719736	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcacgctcatctcagatctCcagcggaggttgaggggatc	13	11	3	2	rs376156323		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5719736C>G	ENST00000379965.3	+	4	988	c.711C>G	c.(709-711)ctC>ctG	p.L237L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	237					defense response to virus (GO:0051607)|immune response (GO:0006955)|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)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTCAGATCTCCAGCGGAGGT	0.542																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(709-711)ctC>ctG		tripartite motif containing 22		C	,	1,4029		0,1,2014	53	59	57		699,711	-1	0	11		57	0,8398		0,0,4199	no	coding-synonymous,coding-synonymous	TRIM22	NM_001199573.1,NM_006074.4	,	0,1,6213	GG,GC,CC		0.0,0.0248,0.0080	,	233/495,237/499	5719736	1,12427	2015	4199	6214	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5719736C>G	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.711C>G	11.37:g.5719736C>G						TRIM5_ENST00000380027.1_Intron	p.L237L	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	4	988	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	237					Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.711C>G	CCDS41612.1																																																																																				0.542	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		3	15	0	0	0	1	0	3	15					G	5719736	C	G	5719736	2	3	475	1	0	0	0	0	0	0	0	1	16493	842	30	4		4	TRIM22	11	5719736	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	63765	5719736	129286780	25	38916											
PPFIBP2	8495	broad.mit.edu	37	chr11	7586808	7586808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaacaggtgcagatcttaGtgatggtacttgtgagcctg	12	6	1	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:7586808G>A	ENST00000299492.4	+	3	477	c.89G>A	c.(88-90)aGt>aAt	p.S30N		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	30					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGATCTTAGTGATGGTACT	0.527																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(88-90)aGt>aAt		PTPRF interacting protein, binding protein 2 (liprin beta 2)							207	195	199					11																	7586808		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7586808G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.89G>A	11.37:g.7586808G>A	ENSP00000299492:p.Ser30Asn						p.S30N	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	3	477	+			30					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.89G>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110832	0.37242	.	.	ENSG00000166387	ENST00000526873;ENST00000528947;ENST00000299492;ENST00000527790;ENST00000526046	T;T	0.13538	2.58;2.58	5.49	3.59	0.41128	.	0.582816	0.17648	N	0.166786	T	0.13286	0.0322	L	0.49126	1.545	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.18116	-1.0347	10	0.66056	D	0.02	-2.4625	7.9046	0.29755	0.082:0.3061:0.6119:0.0	.	30	Q8ND30	LIPB2_HUMAN	N	30	ENSP00000299492:S30N;ENSP00000434981:S30N	ENSP00000299492:S30N	S	+	2	0	PPFIBP2	7543384	0.001000	0.12720	0.323000	0.25347	0.985000	0.73830	0.960000	0.29253	0.849000	0.35215	0.650000	0.86243	AGT		0.527	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		5	132	0	0	0	1	0	5	132					A	7586808	G	A	7586808	3	1	475	1	0	0	0	0	1	0	0	0	12314	1029	36	2	95	2	PPFIBP2	11	7586808	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	1867072	7586808	127419708	26	38917											
DENND5A	23258	broad.mit.edu	37	chr11	9163597	9163597	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggctcttgtatgccaGttttcctcagggactacttc	9	12	2	0			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:9163597G>C	ENST00000328194.3	-	22	3890	c.3570C>G	c.(3568-3570)aaC>aaG	p.N1190K	DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1190	RUN 2. {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						TTGTATGCCAGTTTTCCTCAG	0.453																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3568-3570)aaC>aaG		DENN/MADD domain containing 5A							200	189	193					11																	9163597		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9163597G>C	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.3570C>G	11.37:g.9163597G>C	ENSP00000328524:p.Asn1190Lys					DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K	p.N1190K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			22	3890	-			1190			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.3570C>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.275493|2.275493	0.40294|0.40294	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000528725;ENST00000533737;ENST00000525784	T;T;T|.	0.22134|.	1.97;3.81;1.97|.	5.56|5.56	1.2|1.2	0.21068|0.21068	RUN (2);|.	0.043164|.	0.85682|.	D|.	0.000000|.	T|T	0.50837|0.50837	0.1639|0.1639	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999971|0.999971	B;B|.	0.24317|.	0.049;0.101|.	B;B|.	0.27380|.	0.045;0.079|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.07482|.	T|.	0.82|.	.|.	10.3187|10.3187	0.43753|0.43753	0.4474:0.0:0.5526:0.0|0.4474:0.0:0.5526:0.0	.|.	1190;1190|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	K|S	1190;1190;533|89;78;169	ENSP00000328524:N1190K;ENSP00000435866:N1190K;ENSP00000432549:N533K|.	ENSP00000328524:N1190K|.	N|T	-|-	3|2	2|0	DENND5A|DENND5A	9120173|9120173	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	3.439000|3.439000	0.52878|0.52878	-0.036000|-0.036000	0.13669|0.13669	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.453	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		9	70	0	0	0	1	0	9	70					C	9163597	G	C	9163597	3	2	475	1	0	0	0	0	1	0	0	0	4436	1020	36	4	301	4	DENND5A	11	9163597	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	1576789	9163597	125842919	27	38918											
OR5R1	219479	broad.mit.edu	37	chr11	56185068	56185068	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgtaggaggtgaggAcaatggaagaggaagagatc	16	2	0	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:56185068A>G	ENST00000312253.1	-	1	640	c.641T>C	c.(640-642)gTc>gCc	p.V214A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	214						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAGGTGAGGACAATGGAAGA	0.473																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(640-642)gTc>gCc		olfactory receptor, family 5, subfamily R, member 1							116	99	105					11																	56185068		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185068A>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.641T>C	11.37:g.56185068A>G	ENSP00000308595:p.Val214Ala						p.V214A	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	640	-	Esophageal squamous(21;0.00448)		214						Missense_Mutation	SNP	ENST00000312253.1	37	c.641T>C	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302306	0.60195	.	.	ENSG00000174942	ENST00000312253	T	0.00198	8.57	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30043	U	0.010549	T	0.00724	0.0024	M	0.91354	3.2	0.09310	N	1	D	0.59357	0.985	D	0.64595	0.927	T	0.26121	-1.0112	10	0.87932	D	0	-16.0816	14.943	0.71009	1.0:0.0:0.0:0.0	.	214	Q8NH85	OR5R1_HUMAN	A	214	ENSP00000308595:V214A	ENSP00000308595:V214A	V	-	2	0	OR5R1	55941644	0.410000	0.25376	0.194000	0.23346	0.953000	0.61014	5.013000	0.64023	2.015000	0.59207	0.472000	0.43445	GTC		0.473	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		23	31	0	0	0	1	0	23	31					G	56185068	A	G	56185068	3	3	475	1	0	0	0	0	1	0	0	0	11180	275	10	3	335	3	OR5R1	11	56185068	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08	47021471	56185068	78821448	28	38919											
FMNL3	91010	broad.mit.edu	37	chr12	50055824	50055824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatcattcagaaattccCgcacccacctgcagataaag	5	13	3	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr12:50055824C>T	ENST00000293590.5	-	5	610	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	126	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.R126Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGAAATTCCCGCACCCACCT	0.527																																						ENST00000335154.5																			1	Substitution - Missense(1)	p.R126Q(1)	lung(1)	breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(376-378)cGg>cAg		formin-like 3							86	86	86					12																	50055824		1928	4135	6063	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50055824C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.377G>A	12.37:g.50055824C>T	ENSP00000293590:p.Arg126Gln					FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R126Q	p.R126Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			5	610	-			126			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.599990	0.46318	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.41	4.41	0.53225	.	0.061573	0.64402	D	0.000009	D	0.89424	0.6711	N	0.21194	0.64	0.58432	D	0.999996	D;D	0.71674	0.998;0.996	D;P	0.72982	0.979;0.661	D	0.87239	0.2265	10	0.23891	T	0.37	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	126;126	Q8IVF7-2;Q8IVF7-3	.;.	Q	126	ENSP00000335655:R126Q;ENSP00000447479:R126Q;ENSP00000344311:R126Q;ENSP00000293590:R126Q	ENSP00000293590:R126Q	R	-	2	0	FMNL3	48342091	0.391000	0.25221	0.984000	0.44739	0.860000	0.49131	1.562000	0.36353	2.460000	0.83146	0.462000	0.41574	CGG		0.527	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		10	20	0	0	0	1	0	10	20					T	50055824	C	T	50055824	3	4	475	1	0	0	0	0	1	0	0	0	5953	652	23	1	2794	1	FMNL3	12	50055824	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		50055824	83796071	29	38920											
OR4K1	79544	broad.mit.edu	37	chr14	20404020	20404020	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtacttcttgctcagtaaTctttctttcattgatatctg	5	8	6	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr14:20404020T>C	ENST00000285600.4	+	1	254	c.195T>C	c.(193-195)aaT>aaC	p.N65N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	65						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCTCAGTAATCTTTCTTTCA	0.383																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(193-195)aaT>aaC		olfactory receptor, family 4, subfamily K, member 1							270	284	279					14																	20404020		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404020T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.195T>C	14.37:g.20404020T>C							p.N65N	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	254	+	all_cancers(95;0.00108)		65					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.195T>C	CCDS32025.1																																																																																				0.383	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			6	299	0	0	0	1	0	6	299					C	20404020	T	C	20404020	2	2	475	1	0	0	0	0	0	0	0	1	11067	1432	50	3		3	OR4K1	14	20404020	Silent	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		20404020	86945520	30	38921											
BUB1B	701	broad.mit.edu	37	chr15	40498485	40498485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacacttgtgactttgCcagagcagctcgttttgtat	10	8	0	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr15:40498485C>T	ENST00000287598.6	+	15	2030	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	612					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|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)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTGACTTTGCCAGAGCAGCT	0.428			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1834-1836)gCc>gTc		BUB1 mitotic checkpoint serine/threonine kinase B							93	96	95					15																	40498485		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40498485C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1835C>T	15.37:g.40498485C>T	ENSP00000287598:p.Ala612Val					BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	p.A612V	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	15	2030	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	612					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.1835C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	5.094	0.203026	0.09704	.	.	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.14893	2.47;2.47	5.51	3.39	0.38822	.	0.261991	0.31821	N	0.007016	T	0.08403	0.0209	N	0.21448	0.665	0.09310	N	0.999997	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.24368	-1.0162	10	0.20519	T	0.43	-1.0017	2.1209	0.03725	0.2378:0.3706:0.0:0.3916	.	626;612	O60566-3;O60566	.;BUB1B_HUMAN	V	612;626	ENSP00000287598:A612V;ENSP00000398470:A626V	ENSP00000287598:A612V	A	+	2	0	BUB1B	38285777	0.977000	0.34250	0.970000	0.41538	0.953000	0.61014	1.719000	0.38011	1.313000	0.45069	0.591000	0.81541	GCC		0.428	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			3	46	0	0	0	1	0	3	46					T	40498485	C	T	40498485	3	4	475	1	0	0	0	0	1	0	0	0	1571	739	26	2	1893	2	BUB1B	15	40498485	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		40498485	62032907	31	38922											
TP53	7157	broad.mit.edu	37	chr17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggtgaggatgggccTccggttcatgccgcccatgc	15	11	1	2	rs587782082		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:7577536T>C	ENST00000269305.4	-	7	934	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000420246.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)	AGGATGGGCCTCCGGTTCATG	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(1)|liver(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						c.(745-747)Agg>Ggg	Other conserved DNA damage response genes	tumor protein p53							153	113	126					17																	7577536		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577536T>C	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.745A>G	17.37:g.7577536T>C	ENSP00000269305:p.Arg249Gly	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G	p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	877	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.745A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496716	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	-0.0234	0.13943	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	0.99854	0.9932	M	0.92367	3.3	0.48185	D	0.9996	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.999	D;D;D;D;D	0.81914	0.976;0.995;0.99;0.967;0.988	D	0.97987	1.0352	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	249;249;249;249;249;249;238;117	ENSP00000410739:R249G;ENSP00000352610:R249G;ENSP00000269305:R249G;ENSP00000398846:R249G;ENSP00000391127:R249G;ENSP00000391478:R249G;ENSP00000425104:R117G	ENSP00000269305:R249G	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	7	0	0	0	1	0	42	7					C	7577536	T	C	7577536	3	2	475	1	0	0	0	0	1	0	0	0	16378	1550	54	3	545	3	TP53	17	7577536	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		7577536	73617674	32	38923											
PRKCSH	5589	broad.mit.edu	37	chr19	11546952	11546952	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagatgctgttgccgcTgctgctgctgctacccatgt	13	11	0	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:11546952T>C	ENST00000589838.1	+	1	14	c.14T>C	c.(13-15)cTg>cCg	p.L5P	CCDC151_ENST00000591179.1_5'Flank|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000252455.2_Missense_Mutation_p.L5P|CCDC151_ENST00000586836.1_5'Flank|PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	5					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgttgccgctgctgctgctg	0.647											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(13-15)cTg>cCg		protein kinase C substrate 80K-H							27	24	25					19																	11546952		2203	4298	6501	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11546952T>C		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.14T>C	19.37:g.11546952T>C	ENSP00000465461:p.Leu5Pro		OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000589838.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P	p.L5P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			2	350	+			5					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.14T>C	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	T	5.657	0.305877	0.10733	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77750	-1.09;-1.12	2.5	-3.94	0.04130	.	0.173879	0.38492	N	0.001677	T	0.67627	0.2913	M	0.70275	2.135	0.58432	D	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.41645	-0.9497	10	0.52906	T	0.07	-5.8268	4.7633	0.13118	0.0:0.2459:0.17:0.5841	.	5;5;5	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	P	5	ENSP00000252455:L5P;ENSP00000395616:L5P	ENSP00000252455:L5P	L	+	2	0	PRKCSH	11407952	0.913000	0.31002	0.001000	0.08648	0.027000	0.11550	1.637000	0.37155	-1.058000	0.03197	0.402000	0.26972	CTG		0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	9	0	0	0	1	0	3	9					C	11546952	T	C	11546952	3	2	475	1	0	0	0	0	1	0	0	0	12516	1580	55	3	16	3	PRKCSH	19	11546952	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		11546952	47582031	33	38924											
SPTBN4	57731	broad.mit.edu	37	chr19	41007853	41007853	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aacatggaggctccagatgaGaagtccatcatcacctacgt	9	11	2	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:41007853G>C	ENST00000352632.3	+	8	896	c.810G>C	c.(808-810)gaG>gaC	p.E270D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	270	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			CTCCAGATGAGAAGTCCATCA	0.507																																						ENST00000352632.3																			0				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						c.(808-810)gaG>gaC		spectrin, beta, non-erythrocytic 4							163	160	161					19																	41007853		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41007853G>C	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.810G>C	19.37:g.41007853G>C	ENSP00000263373:p.Glu270Asp					SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D	p.E270D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	896	+			270			Actin-binding.|CH 2.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.810G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262672	0.59431	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.63417	-0.04;-0.04;-0.04	3.94	2.91	0.33838	Calponin homology domain (5);	0.107977	0.34531	U	0.003890	T	0.73806	0.3634	M	0.84326	2.69	0.80722	D	1	P;D	0.54772	0.927;0.968	P;P	0.61592	0.741;0.891	T	0.75010	-0.3468	10	0.52906	T	0.07	.	7.6338	0.28255	0.2005:0.0:0.7995:0.0	.	270;270	Q9H254;Q71S06	SPTN4_HUMAN;.	D	270	ENSP00000263373:E270D;ENSP00000340345:E270D;ENSP00000340741:E270D	ENSP00000340345:E270D	E	+	3	2	SPTBN4	45699693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.864000	0.27926	2.215000	0.71742	0.467000	0.42956	GAG		0.507	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			45	95	0	0	0	1	0	45	95					C	41007853	G	C	41007853	3	2	475	1	0	0	0	0	1	0	0	0	15120	933	33	4	836	4	SPTBN4	19	41007853	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	29460901	41007853	18121130	34	38925											
ZNF432	9668	broad.mit.edu	37	chr19	52538169	52538169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaaagatttctctcttttatGaattctttgatgttcattta	4	5	4	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:52538169G>C	ENST00000594154.1	-	5	975	c.763C>G	c.(763-765)Cat>Gat	p.H255D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D			O94892	ZN432_HUMAN	zinc finger protein 432	255					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTTATGAATTCTTTGA	0.378																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(763-765)Cat>Gat		zinc finger protein 432							90	96	94					19																	52538169		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538169G>C	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.763C>G	19.37:g.52538169G>C	ENSP00000470488:p.His255Asp					ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D	p.H255D			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	975	-		all_neural(266;0.117)	255						Missense_Mutation	SNP	ENST00000594154.1	37	c.763C>G	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999461	0.54147	.	.	ENSG00000256087	ENST00000221315	T	0.67698	-0.28	2.9	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83922	0.5359	H	0.96889	3.9	0.25920	N	0.983121	D	0.62365	0.991	P	0.59595	0.86	T	0.73717	-0.3895	9	0.87932	D	0	.	9.2913	0.37789	0.1245:0.0:0.8755:0.0	.	255	O94892	ZN432_HUMAN	D	255	ENSP00000221315:H255D	ENSP00000221315:H255D	H	-	1	0	ZNF432	57229981	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.327000	0.52045	1.630000	0.50440	0.585000	0.79938	CAT		0.378	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		53	19	0	0	0	1	0	53	19					C	52538169	G	C	52538169	3	2	475	1	0	0	0	0	1	0	0	0	17903	1290	45	4	1199	4	ZNF432	19	52538169	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	11530316	52538169	6590814	35	38926											
NLRP5	126206	broad.mit.edu	37	chr19	56515394	56515394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgctggcctgggctacGtccattagcatctttgaaaa	10	11	1	1	rs370612026		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:56515394G>A	ENST00000390649.3	+	2	375	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	125	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		CCTGGGCTACGTCCATTAGCA	0.502																																						ENST00000390649.3																			0				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						c.(373-375)acG>acA		NLR family, pyrin domain containing 5		G		0,4080		0,0,2040	90	89	89		375	-3.6	0	19		89	1,8381		0,1,4190	no	coding-synonymous	NLRP5	NM_153447.4		0,1,6230	AA,AG,GG		0.0119,0.0,0.0080		125/1201	56515394	1,12461	2040	4191	6231	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515394G>A	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.375G>A	19.37:g.56515394G>A							p.T125T	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	375	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	125			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.375G>A	CCDS12938.1																																																																																				0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		16	4	0	0	0	1	0	16	4					A	56515394	G	A	56515394	2	1	475	1	0	0	0	0	0	0	0	1	10480	1132	40	1		1	NLRP5	19	56515394	Silent	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	3977225	56515394	2613589	36	38927											
ATRX	546	broad.mit.edu	37	chrX	76937741	76937744	+	Frame_Shift_Del	DEL	TTAC	TTAC	-													atactgttgttccattttaaTtacttttttcttaaagtctg							TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:76937741_76937744delTTAC	ENST00000373344.5	-	9	3218_3221	c.3004_3007delGTAA	c.(3004-3009)gtaattfs	p.VI1002fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1002					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						TCCATTTTAATTACTTTTTTCTTA	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3004-3009)ttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937741_76937744delTTAC	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.3004_3007delGTAA	X.37:g.76937741_76937744delTTAC	ENSP00000362441:p.Val1002fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	p.VI1002fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3218_3221	-			1002					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3004_3007delGTAA	CCDS14434.1																																																																																				0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	21						71	21	---	---	---	---	-	76937744	TTAC	-	76937741	7	5	475	1	0	1	0	1	0	0	0	0	1208	1493	52	0	4579	0	ATRX	23	76937741	Frame_Shift_Del	DEL	TTAC	TCGA-TM-A84Q-01A-11D-A36O-08		76937741	78332819	37	38928											
ARMCX1	51309	broad.mit.edu	37	chrX	100808802	100808803	+	Frame_Shift_Ins	INS	-	-	TC													agtgtgtgatgacaccatggINStctgtcgcttggactcagct							TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:100808802_100808803insTC	ENST00000372829.3	+	4	1260_1261	c.889_890insTC	c.(889-891)gtcfs	p.V297fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	297						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGACACCATGGTCTGTCGCTTG	0.426																																						ENST00000372829.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(889-891)ctgfs		armadillo repeat containing, X-linked 1																																				SO:0001589	frameshift_variant	51309					integral to membrane	binding	g.chrX:100808802_100808803insTC	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.890_891dupTC	X.37:g.100808803_100808804dupTC	ENSP00000361917:p.Val297fs						p.L297fs	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	1260_1261	+			297					Q53HK2|Q9H2Q0	Frame_Shift_Ins	INS	ENST00000372829.3	37	c.889_890insTC	CCDS14487.1																																																																																				0.426	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		8	34						8	34	---	---	---	---	TC	100808803	-	TC	100808802	7	5	475	1	0	1	1	0	0	0	0	0	959	1261	44	0	891	0	ARMCX1	23	100808802	Frame_Shift_Ins	INS	-	TCGA-TM-A84Q-01A-11D-A36O-08	23871061	100808802	54461758	38	38929											
UBR3	130507	broad.mit.edu	37	chr2	170863700	170863700	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaccgggagctttcccAgtaagcatcagtgtaaggca	13	10	1	0			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr2:170863700A>G	ENST00000272793.5	+	28	4280	c.4230A>G	c.(4228-4230)ccA>ccG	p.P1410P	UBR3_ENST00000418381.1_Splice_Site_p.P1410P|UBR3_ENST00000392631.1_Splice_Site_p.P231P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1410					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						GAGCTTTCCCAGTAAGCATCA	0.403																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.e28+1		ubiquitin protein ligase E3 component n-recognin 3 (putative)							48	42	44					2																	170863700		2201	4300	6501	SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170863700A>G	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.4230+1A>G	2.37:g.170863700A>G						UBR3_ENST00000418381.1_Splice_Site_p.P1410_splice|UBR3_ENST00000392631.1_Splice_Site_p.P231_splice	p.P1410_splice			Q6ZT12	UBR3_HUMAN			28	4280	+			1410					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	ENST00000272793.5	37	c.4230_splice		.	.	.	.	.	.	.	.	.	.	a	15.34	2.805312	0.50315	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	T	0.70692	0.3253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70436	-0.4872	4	.	.	.	.	14.7171	0.69277	1.0:0.0:0.0:0.0	.	.	.	.	R	468	.	.	Q	+	2	0	UBR3	170571946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.155000	0.58131	1.884000	0.54569	0.373000	0.22412	CAG		0.403	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	Silent	3	7	0	0	0	1	0	3	7					G	170863700	A	G	170863700	5	3	476	1	0	0	0	0	0	0	1	0	16900	202	7	3	4340	3	UBR3	2	170863700	Splice_Site	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		170863700	72335673	1	38930											
USP4	7375	broad.mit.edu	37	chr3	49335318	49335318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacacgaaaatgtcatccCgaggcatgatgtggtttaaa	9	9	2	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr3:49335318C>T	ENST00000265560.4	-	13	1722	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	USP4_ENST00000488520.1_5'Flank|USP4_ENST00000351842.4_Missense_Mutation_p.R512Q	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	559	USP.|Ubiquitin-like 2.				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)			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)		AATGTCATCCCGAGGCATGAT	0.418																																						ENST00000351842.4																			0				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						c.(1534-1536)cGg>cAg		ubiquitin specific peptidase 4 (proto-oncogene)							136	117	123					3																	49335318		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49335318C>T	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.1676G>A	3.37:g.49335318C>T	ENSP00000265560:p.Arg559Gln					USP4_ENST00000265560.4_Missense_Mutation_p.R559Q	p.R512Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		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)	12	1543	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	559					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1535G>A	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596807	0.86953	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.22539	1.95;2.09	5.84	5.84	0.93424	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.099589	0.64402	D	0.000003	T	0.43122	0.1233	M	0.66378	2.025	0.80722	D	1	D;D;D	0.76494	0.997;0.984;0.999	P;P;D	0.68483	0.852;0.781;0.958	T	0.22034	-1.0228	10	0.66056	D	0.02	-17.5922	13.0164	0.58759	0.0:0.9225:0.0:0.0775	.	512;559;559	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	Q	512;559	ENSP00000341028:R512Q;ENSP00000265560:R559Q	ENSP00000265560:R559Q	R	-	2	0	USP4	49310322	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.803000	0.47924	2.768000	0.95171	0.650000	0.86243	CGG		0.418	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		6	72	0	0	0	1	0	6	72					T	49335318	C	T	49335318	3	4	476	1	0	0	0	0	1	0	0	0	17068	652	23	1	1255	1	USP4	3	49335318	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		49335318	148687112	2	38931											
CCDC109B	55013	broad.mit.edu	37	chr4	110603877	110603877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgaccacctgaaggaAcagctgcagccccttgaaca	8	12	0	3			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr4:110603877A>G	ENST00000394650.4	+	5	724	c.591A>G	c.(589-591)gaA>gaG	p.E197E		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	197					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTGAAGGAACAGCTGCAGC	0.388																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(589-591)gaA>gaG		coiled-coil domain containing 109B							90	83	85					4																	110603877		2203	4300	6503	SO:0001819	synonymous_variant	55013					integral to membrane		g.chr4:110603877A>G	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.591A>G	4.37:g.110603877A>G							p.E197E	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	5	724	+			197					A8K4Y3|Q6IAC1	Silent	SNP	ENST00000394650.4	37	c.591A>G	CCDS3683.2																																																																																				0.388	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		3	61	0	0	0	1	0	3	61					G	110603877	A	G	110603877	2	3	476	1	0	0	0	0	0	0	0	1	2745	40	2	3		3	CCDC109B	4	110603877	Silent	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		110603877	80550399	3	38932											
BRD2	6046	broad.mit.edu	37	chr6	32944712	32944712	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggacctcagcactgtcaAggtacccactgcatggggca	11	13	2	0			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr6:32944712A>G	ENST00000374825.4	+	7	2900	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	BRD2_ENST00000395287.1_Splice_Site_p.K400R|BRD2_ENST00000374831.4_Splice_Site_p.K400R|BRD2_ENST00000449085.2_Splice_Site_p.K353R|BRD2_ENST00000395289.2_Splice_Site_p.K400R|BRD2_ENST00000443797.2_Splice_Site_p.K280R	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	400	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGCACTGTCAAGGTACCCACT	0.512																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.e7+1		bromodomain containing 2							60	65	63					6																	32944712		1476	2667	4143	SO:0001630	splice_region_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944712A>G	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1200+1A>G	6.37:g.32944712A>G						BRD2_ENST00000374831.4_Splice_Site_p.K400_splice|BRD2_ENST00000374825.4_Splice_Site_p.K400_splice|BRD2_ENST00000395287.1_Splice_Site_p.K400_splice|BRD2_ENST00000449085.2_Splice_Site_p.K353_splice|BRD2_ENST00000443797.2_Splice_Site_p.K280_splice	p.K400_splice			P25440	BRD2_HUMAN			7	2800	+			400			Bromo 2.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Splice_Site	SNP	ENST00000374825.4	37	c.1200_splice	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.107416|4.107416	0.77096|0.77096	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000449025	T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Bromodomain (5);Bromodomain, conserved site (1);|.	0.000000|.	0.52532|.	D|.	0.000061|.	T|T	0.36496|0.36496	0.0969|0.0969	N|N	0.21545|0.21545	0.675|0.675	0.80722|0.80722	D|D	1|1	P;P|.	0.48162|.	0.906;0.806|.	P;P|.	0.52646|.	0.705;0.615|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.36615|.	T|.	0.2|.	-18.8638|-18.8638	12.8681|12.8681	0.57951|0.57951	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	400;400|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	R|G	400;400;400;280;400;353|406	ENSP00000363958:K400R;ENSP00000363964:K400R;ENSP00000378704:K400R;ENSP00000413495:K280R;ENSP00000378702:K400R;ENSP00000409145:K353R|.	ENSP00000363958:K400R|.	K|S	+|+	2|1	0|0	BRD2|BRD2	33052690|33052690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.259000|7.259000	0.78381|0.78381	2.201000|2.201000	0.70794|0.70794	0.519000|0.519000	0.50382|0.50382	AAG|AGC		0.512	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		Missense_Mutation	7	30	0	0	0	1	0	7	30					G	32944712	A	G	32944712	5	3	476	1	0	0	0	0	0	0	1	0	1502	86	3	3	1221	3	BRD2	6	32944712	Splice_Site	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		32944712	138170355	4	38933											
TNRC18	84629	broad.mit.edu	37	chr7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-													gcgacgacgagcctttggccGgggcgcccgaggagtggccg							TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:5428871delG	ENST00000430969.1	-	5	932	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P195fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							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)		GCCTTTGGCCGGGGCGCCCGA	0.776																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(583-585)cgfs		trinucleotide repeat containing 18							2	3	3					7																	5428871		765	1810	2575	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5428871delG	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.584delC	7.37:g.5428871delG	ENSP00000395538:p.Pro195fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs	p.P195fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	932	-		Ovarian(82;0.142)	195					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.584delC	CCDS47534.1																																																																																				0.776	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5428871	G	-	5428871	7	5	476	1	0	1	0	1	0	0	0	0	16336	1116	39	0	8426	0	TNRC18	7	5428871	Frame_Shift_Del	DEL	G	TCGA-TM-A84R-01A-21D-A36O-08		5428871	153709792	5	38934											
GPNMB	10457	broad.mit.edu	37	chr7	23293803	23293803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggaggccgtgtgcaggCggtcctgaccagtgactcac	14	13	1	2	rs145407985	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:23293803C>T	ENST00000381990.2	+	3	400	c.239C>T	c.(238-240)gCg>gTg	p.A80V	GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000258733.4_Missense_Mutation_p.A80V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.A80V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTGTGCAGGCGGTCCTGACC	0.458													C|||	2	0.000399361	0.0	0.0	5008	,	,		16129	0.002		0.0	False		,,,				2504	0.0					ENST00000258733.4																			1	Substitution - Missense(1)	p.A80V(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(238-240)gCg>gTg		glycoprotein (transmembrane) nmb		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	108	113	111		239,239	5.3	0.9	7	dbSNP_134	111	0,8600		0,0,4300	no	missense,missense	GPNMB	NM_001005340.1,NM_002510.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/573,80/561	23293803	1,13005	2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293803C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.239C>T	7.37:g.23293803C>T	ENSP00000371420:p.Ala80Val					GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A80V|GPNMB_ENST00000539136.1_Intron	p.A80V			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		3	534	+			80					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.239C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396907	0.42512	2.27E-4	0.0	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.13420	2.59;2.61;2.62	6.17	5.3	0.74995	.	0.073610	0.56097	D	0.000028	T	0.29158	0.0725	L	0.57536	1.79	0.35035	D	0.759118	D;D;P;D	0.89917	0.999;1.0;0.58;1.0	D;D;B;D	0.87578	0.964;0.998;0.126;0.998	T	0.20605	-1.0270	10	0.02654	T	1	-21.0265	15.6955	0.77494	0.0:0.9348:0.0:0.0652	.	80;80;80;80	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	V	80;115;80;80;80	ENSP00000258733:A80V;ENSP00000371420:A80V;ENSP00000405586:A80V	ENSP00000258733:A80V	A	+	2	0	GPNMB	23260328	0.981000	0.34729	0.916000	0.36221	0.167000	0.22549	2.490000	0.45294	1.625000	0.50366	0.655000	0.94253	GCG		0.458	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		5	109	0	0	0	1	0	5	109					T	23293803	C	T	23293803	3	4	476	1	0	0	0	0	1	0	0	0	6620	768	27	1	249	1	GPNMB	7	23293803	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	17864932	23293803	135844860	6	38935											
TRRAP	8295	broad.mit.edu	37	chr7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtacctttacgaattgCggcattaagtaagttaatga	8	7	0	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:98533290C>T	ENST00000359863.4	+	28	4312	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					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)			TTACGAATTGCGGCATTAAGT	0.393																																						ENST00000359863.4																			0				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						c.(4102-4104)gCg>gTg		transformation/transcription domain-associated protein							64	60	61					7																	98533290		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533290C>T	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.4103C>T	7.37:g.98533290C>T	ENSP00000352925:p.Ala1368Val					TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V	p.A1368V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4312	+	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)		1368					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4103C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.501952|4.501952	0.85176|0.85176	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.66280|.	-0.2;-0.2|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-type fold (1);|.	0.051888|.	0.85682|.	D|.	0.000000|.	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.02751|0.02751	-0.505|-0.505	0.80722|0.80722	D|D	1|1	D;D;D|.	0.62365|.	0.991;0.975;0.987|.	P;B;P|.	0.48654|.	0.585;0.335;0.461|.	T|T	0.40831|0.40831	-0.9542|-0.9542	10|5	0.32370|.	T|.	0.25|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1368;1082;1368|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1368;1368;1366|1083	ENSP00000352925:A1368V;ENSP00000347733:A1368V|.	ENSP00000347733:A1368V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98371226|98371226	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.393000|0.393000	0.30537|0.30537	7.622000|7.622000	0.83099|0.83099	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	57	0	0	0	1	0	3	57					T	98533290	C	T	98533290	3	4	476	1	0	0	0	0	1	0	0	0	16598	768	27	1	4209	1	TRRAP	7	98533290	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	75239487	98533290	60605373	7	38936											
GNA14	9630	broad.mit.edu	37	chr9	80043895	80043895	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaataatggaggtgacactCtcaaagcagtgaatccactt	8	8	1	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr9:80043895C>A	ENST00000341700.6	-	5	1164	c.651G>T	c.(649-651)gaG>gaT	p.E217D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGGTGACACTCTCAAAGCAGT	0.483																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(649-651)gaG>gaT		guanine nucleotide binding protein (G protein), alpha 14							206	191	196					9																	80043895		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80043895C>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.651G>T	9.37:g.80043895C>A	ENSP00000365807:p.Glu217Asp					GNA14_ENST00000464095.1_5'UTR	p.E217D	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			5	1164	-			217					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.651G>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303004	0.81136	.	.	ENSG00000156049	ENST00000341700	D	0.88354	-2.37	5.51	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	L	0.56396	1.775	0.44515	D	0.997466	P	0.38978	0.652	P	0.47470	0.548	D	0.87829	0.2643	10	0.87932	D	0	.	7.6379	0.28277	0.0:0.7231:0.0:0.2769	.	217	O95837	GNA14_HUMAN	D	217	ENSP00000365807:E217D	ENSP00000365807:E217D	E	-	3	2	GNA14	79233715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.752000	0.38349	1.202000	0.43218	0.655000	0.94253	GAG		0.483	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			10	120	1	0	2.17888e-05	1	2.24113e-05	10	120					A	80043895	C	A	80043895	3	1	476	1	0	0	0	0	1	0	0	0	6502	912	32	4	428	4	GNA14	9	80043895	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		80043895	61169536	8	38937											
HMX3	340784	broad.mit.edu	37	chr10	124895699	124895699	+	Frame_Shift_Del	DEL	C	C	-													acggagaccaccaccggccgCcccctaagcctcagccgccc							TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr10:124895699delC	ENST00000357878.5	+	1	222	c.133delC	c.(133-135)cccfs	p.P46fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	46	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCACCGGCCGCCCCCTAAGCC	0.766																																						ENST00000357878.5																			0				lung(4)	4						c.(133-135)ccfs		H6 family homeobox 3							3	5	5					10																	124895699		1433	3399	4832	SO:0001589	frameshift_variant	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895699delC		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.133delC	10.37:g.124895699delC	ENSP00000350549:p.Pro46fs						p.P46fs	NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	222	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	46			Pro-rich.		A8MU06	Frame_Shift_Del	DEL	ENST00000357878.5	37	c.133delC	CCDS41575.1																																																																																				0.766	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		2	4						2	4	---	---	---	---	-	124895699	C	-	124895699	7	5	476	1	0	1	0	1	0	0	0	0	7248	739	26	0	135	0	HMX3	10	124895699	Frame_Shift_Del	DEL	C	TCGA-TM-A84R-01A-21D-A36O-08		124895699	10639048	9	38938											
RTN4RL2	349667	broad.mit.edu	37	chr11	57243804	57243804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccttccgcggcctcagccGcctcaccatcctctacctgt	8	20	3	0			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr11:57243804G>A	ENST00000335099.3	+	3	1000	c.683G>A	c.(682-684)cGc>cAc	p.R228H	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGCCTCAGCCGCCTCACCATC	0.701																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(682-684)cGc>cAc		reticulon 4 receptor-like 2							15	19	17					11																	57243804		2190	4276	6466	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243804G>A	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.683G>A	11.37:g.57243804G>A	ENSP00000335397:p.Arg228His						p.R228H	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			3	1000	+			228						Missense_Mutation	SNP	ENST00000335099.3	37	c.683G>A	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691850	0.88735	.	.	ENSG00000186907	ENST00000335099	T	0.57107	0.42	4.52	4.52	0.55395	.	0.000000	0.42294	D	0.000737	T	0.55114	0.1900	L	0.31371	0.925	0.80722	D	1	D	0.71674	0.998	P	0.60236	0.871	T	0.57429	-0.7813	10	0.54805	T	0.06	.	11.4977	0.50419	0.0897:0.0:0.9103:0.0	.	228	Q86UN3	R4RL2_HUMAN	H	228	ENSP00000335397:R228H	ENSP00000335397:R228H	R	+	2	0	RTN4RL2	57000380	0.906000	0.30813	1.000000	0.80357	0.998000	0.95712	4.572000	0.60886	2.031000	0.59945	0.561000	0.74099	CGC		0.701	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		4	40	0	0	0	1	0	4	40					A	57243804	G	A	57243804	3	1	476	1	0	0	0	0	1	0	0	0	13732	1087	38	1	693	1	RTN4RL2	11	57243804	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		57243804	77762712	10	38939											
KRT83	3889	broad.mit.edu	37	chr12	52710275	52710275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacttggcattctccacctCggctgtcagcctctggatca	9	15	4	0	rs553152302		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:52710275C>T	ENST00000293670.3	-	6	1080	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	340	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCCACCTCGGCTGTCAGC	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(1018-1020)Gag>Aag		keratin 83							108	92	97					12																	52710275		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710275C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1018G>A	12.37:g.52710275C>T	ENSP00000293670:p.Glu340Lys						p.E340K	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1080	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		340			Coil 2.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1018G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914779	0.92178	.	.	ENSG00000170523	ENST00000293670	T	0.78816	-1.21	3.89	3.89	0.44902	Filament (1);	0.000000	0.44483	D	0.000443	T	0.81795	0.4898	M	0.81614	2.55	0.50171	D	0.999853	P	0.51147	0.942	P	0.46362	0.514	D	0.86517	0.1813	10	0.87932	D	0	.	16.2294	0.82322	0.0:1.0:0.0:0.0	.	340	P78385	KRT83_HUMAN	K	340	ENSP00000293670:E340K	ENSP00000293670:E340K	E	-	1	0	KRT83	50996542	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	7.742000	0.85008	1.901000	0.55032	0.462000	0.41574	GAG		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	75	0	0	0	1	0	5	75					T	52710275	C	T	52710275	3	4	476	1	0	0	0	0	1	0	0	0	8497	893	31	1	479	1	KRT83	12	52710275	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		52710275	81141620	11	38940											
NCOR2	9612	broad.mit.edu	37	chr12	124887093	124887094	+	In_Frame_Ins	INS	-	-	TGT													gctgctgctgctgctgctgcINStgttgttgctgctgctgtca							TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:124887093_124887094insTGT	ENST00000405201.1	-	14	1496_1497	c.1496_1497insACA	c.(1495-1497)cag>caACAg	p.499_499Q>QQ	NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000356219.3_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69Q>QQ			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				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)	p.Q499Q(9)		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)		gctgctgctgctgttgttgctg	0.619																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	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						c.(1495-1497)cca>cACAca		nuclear receptor corepressor 2																																				SO:0001652	inframe_insertion	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093_124887094insTGT	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.1494_1496dupACA	12.37:g.124887097_124887099dupTGT	ENSP00000384018:p.Gln510dup					NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498P>HT|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498P>HT|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69P>HT|NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499P>HT|NCOR2_ENST00000405201.1_In_Frame_Ins_p.499_499P>HT	p.499_499P>HT	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		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)	15	1651_1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	c.1496_1497insACA	CCDS41858.2																																																																																				0.619	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	4						2	4	---	---	---	---	TGT	124887094	-	TGT	124887093	7	5	476	1	0	1	1	0	0	0	0	0	10236	796	28	0	6207	0	NCOR2	12	124887093	In_Frame_Ins	INS	-	TCGA-TM-A84R-01A-21D-A36O-08	72176818	124887093	8964802	12	38941											
C1QTNF9	338872	broad.mit.edu	37	chr13	24892993	24892993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagcccggggaaggatggGacgagtggagagaagggaga	22	5	0	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr13:24892993G>A	ENST00000382071.2	+	3	289	c.204G>A	c.(202-204)ggG>ggA	p.G68G	C1QTNF9_ENST00000332018.4_Silent_p.G68G|C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	68	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)		GGAAGGATGGGACGAGTGGAG	0.463																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(202-204)ggG>ggA		C1q and tumor necrosis factor related protein 9							177	173	174					13																	24892993		2203	4300	6503	SO:0001819	synonymous_variant	338872					collagen	hormone activity	g.chr13:24892993G>A	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.204G>A	13.37:g.24892993G>A						C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.G68G	p.G68G			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	3	289	+		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)	68			Collagen-like 1.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	c.204G>A	CCDS9306.1																																																																																				0.463	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		4	43	0	0	0	1	0	4	43					A	24892993	G	A	24892993	2	1	476	1	0	0	0	0	0	0	0	1	1970	1161	41	2		2	C1QTNF9	13	24892993	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		24892993	90276885	13	38942											
OR4L1	122742	broad.mit.edu	37	chr14	20528495	20528495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctgtgtggggctgcGtgacccagatgttcttcatg	12	11	3	2	rs367946088	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr14:20528495G>A	ENST00000315683.1	+	1	292	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	98						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(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGGGGCTGCGTGACCCAGAT	0.468													g|||	2	0.000399361	0.0	0.0	5008	,	,		19212	0.0		0.0	False		,,,				2504	0.002					ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(292-294)Gtg>Atg		olfactory receptor, family 4, subfamily L, member 1			MET/VAL	1,4405		0,1,2202	153	138	143		292	2.7	1	14		143	0,8600		0,0,4300	no	missense	OR4L1	NM_001004717.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	98/313	20528495	1,13005	2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528495G>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.292G>A	14.37:g.20528495G>A	ENSP00000319217:p.Val98Met						p.V98M	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	292	+	all_cancers(95;0.00108)		98					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.292G>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.113	-1.135434	0.01742	2.27E-4	0.0	ENSG00000176246	ENST00000315683	T	0.02015	4.5	3.97	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.235104	0.34156	N	0.004208	T	0.00754	0.0025	N	0.01751	-0.74	0.21147	N	0.999774	B	0.02656	0.0	B	0.01281	0.0	T	0.47661	-0.9100	10	0.02654	T	1	.	3.1839	0.06594	0.5848:0.0:0.1119:0.3033	.	98	Q8NH43	OR4L1_HUMAN	M	98	ENSP00000319217:V98M	ENSP00000319217:V98M	V	+	1	0	OR4L1	19598335	0.000000	0.05858	0.997000	0.53966	0.864000	0.49448	-0.397000	0.07269	0.680000	0.31366	-0.288000	0.09946	GTG		0.468	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			24	148	0	0	0	1	0	24	148					A	20528495	G	A	20528495	3	1	476	1	0	0	0	0	1	0	0	0	11074	1145	40	1	294	1	OR4L1	14	20528495	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		20528495	86821045	14	38943											
TUBGCP5	114791	broad.mit.edu	37	chr15	22861861	22861861	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaaggagaacctgatgaaGatgcagtccattgctgaaag	11	8	0	5			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:22861861G>A	ENST00000283645.4	+	14	2011	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	TUBGCP5_ENST00000453949.2_Silent_p.K627K|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	627					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)		ACCTGATGAAGATGCAGTCCA	0.468																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1879-1881)aaG>aaA		tubulin, gamma complex associated protein 5							157	133	141					15																	22861861		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22861861G>A	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.1881G>A	15.37:g.22861861G>A						TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.K627K	p.K627K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	14	2011	+		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)	627					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.1881G>A	CCDS10008.1																																																																																				0.468	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		6	171	0	0	0	1	0	6	171					A	22861861	G	A	22861861	2	1	476	1	0	0	0	0	0	0	0	1	16766	933	33	2		2	TUBGCP5	15	22861861	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		22861861	79669531	15	38944											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aTg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>T	15.37:g.90631838C>A	ENSP00000331897:p.Arg172Met					IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron	p.R172M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325761	0.41197	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.98487	4.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.95498	0.8575	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	M	172;42;120	ENSP00000331897:R172M;ENSP00000438457:R42M;ENSP00000446147:R120M	ENSP00000331897:R172M	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			9	35	1	0	2.74318e-10	1	2.90454e-10	9	35					A	90631838	C	A	90631838	3	1	476	1	0	0	0	0	1	0	0	0	7495	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	67769977	90631838	11899554	16	38945											
IGF1R	3480	broad.mit.edu	37	chr15	99465453	99465453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaggaacaccacggccGcagacacctacaacatcacc	8	16	1	1	rs70958396		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:99465453G>A	ENST00000268035.6	+	11	2889	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	760	Fibronectin type-III 3. {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)"	CACCACGGCCGCAGACACCTA	0.527																																						ENST00000268035.6																			0				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						c.(2278-2280)Gca>Aca		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						96	91	93					15																	99465453		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99465453G>A	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.2278G>A	15.37:g.99465453G>A	ENSP00000268035:p.Ala760Thr					IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T	p.A760T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	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)		11	2889	+	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)		760					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2278G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603737	0.03717	.	.	ENSG00000140443	ENST00000268035	T	0.56611	0.45	5.5	3.61	0.41365	Fibronectin, type III (2);	1.040770	0.07646	N	0.931168	T	0.34019	0.0883	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25187	-1.0139	10	0.14656	T	0.56	.	8.3942	0.32546	0.1351:0.2383:0.6267:0.0	.	760;760	C9J5X1;P08069	.;IGF1R_HUMAN	T	760	ENSP00000268035:A760T	ENSP00000268035:A760T	A	+	1	0	IGF1R	97282976	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.028000	0.12350	0.671000	0.31185	-0.150000	0.13652	GCA		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		3	29	0	0	0	1	0	3	29					A	99465453	G	A	99465453	3	1	476	1	0	0	0	0	1	0	0	0	7571	1087	38	1	2320	1	IGF1R	15	99465453	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08	8833615	99465453	3065939	17	38946											
ITGAM	3684	broad.mit.edu	37	chr16	31332597	31332597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctctctcccaggctccaGtattttggtcagtcactgag	9	12	3	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr16:31332597G>A	ENST00000287497.8	+	15	1818	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	ITGAM_ENST00000544665.3_Silent_p.Q582Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	581					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						CCAGGCTCCAGTATTTTGGTC	0.547																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1744-1746)caG>caA		integrin, alpha M (complement component 3 receptor 3 subunit)							131	137	135					16																	31332597		2068	4220	6288	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332597G>A	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.1743G>A	16.37:g.31332597G>A						ITGAM_ENST00000287497.8_Silent_p.Q581Q	p.Q582Q	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			15	1817	+			581					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1746G>A	CCDS45470.1																																																																																				0.547	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	125	0	0	0	1	0	4	125					A	31332597	G	A	31332597	2	1	476	1	0	0	0	0	0	0	0	1	7887	1020	36	2		2	ITGAM	16	31332597	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		31332597	59022156	18	38947											
KIF16B	55614	broad.mit.edu	37	chr20	16360693	16360693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggctctcctcctgcttgcGaatctggagctgcacgattt	11	12	2	0			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr20:16360693G>A	ENST00000354981.2	-	19	2111	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|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)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGCTTGCGAATCTGGAGC	0.517																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1954-1956)Cgc>Tgc		kinesin family member 16B							129	117	121					20																	16360693		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360693G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1954C>T	20.37:g.16360693G>A	ENSP00000347076:p.Arg652Cys					KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C|KIF16B_ENST00000378003.2_5'UTR	p.R652C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2111	-			652			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1954C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381424	0.61845	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.18657	2.2;2.2;2.2	5.28	4.27	0.50696	.	0.063176	0.64402	D	0.000004	T	0.43722	0.1260	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.68621	0.949;0.959;0.949;0.891	T	0.39165	-0.9627	10	0.66056	D	0.02	.	15.8263	0.78709	0.0:0.0:0.864:0.1359	.	652;652;652;652	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	C	652	ENSP00000347076:R652C;ENSP00000347995:R652C;ENSP00000384164:R652C	ENSP00000347076:R652C	R	-	1	0	KIF16B	16308693	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.524000	0.60552	2.630000	0.89119	0.655000	0.94253	CGC		0.517	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	130	0	0	0	1	0	6	130					A	16360693	G	A	16360693	3	1	476	1	0	0	0	0	1	0	0	0	8278	1058	37	1	2031	1	KIF16B	20	16360693	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		16360693	46664827	19	38948											
TRAPPC10	7109	broad.mit.edu	37	chr21	45502895	45502895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttaccaagcacaagacGtccaatgggatcattaactt	8	10	1	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr21:45502895G>A	ENST00000291574.4	+	14	2125	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	650					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						AGCACAAGACGTCCAATGGGA	0.502																																						ENST00000291574.4																			0				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						c.(1948-1950)acG>acA		trafficking protein particle complex 10							166	155	159					21																	45502895		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502895G>A	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.1950G>A	21.37:g.45502895G>A							p.T650T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2125	+			650					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.1950G>A	CCDS13704.1																																																																																				0.502	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	160	0	0	0	1	0	4	160					A	45502895	G	A	45502895	2	1	476	1	0	0	0	0	0	0	0	1	16454	1132	40	1		1	TRAPPC10	21	45502895	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		45502895	2627000	20	38949											
GSTT1	2952	broad.mit.edu	37	chr22	24379404	24379404	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccgcagagtcgtgTgctgccatgccaggtactca	11	13	2	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr22:24379404T>C	ENST00000248935.5	-	3	360	c.308A>G	c.(307-309)cAc>cGc	p.H103R	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		103	GST C-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)	CAGAGTCGTGTGCTGCCATGC	0.607									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(307-309)cAc>cGc		glutathione S-transferase theta 1	Glutathione(DB00143)						50	44	46					22																	24379404		1678	3581	5259	SO:0001583	missense	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24379404T>C																												ENST00000248935.5:c.308A>G	22.37:g.24379404T>C	ENSP00000248935:p.His103Arg					GSTT1_ENST00000439996.2_5'UTR	p.H103R	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			3	360	-			103			GST C-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	ENST00000248935.5	37	c.308A>G	CCDS13822.1	.	.	.	.	.	.	.	.	.	.	.	16.53	3.150458	0.57151	.	.	ENSG00000184674	ENST00000436103;ENST00000248935	T;T	0.42900	0.96;2.28	4.64	3.51	0.40186	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.92122	3.275	0.80722	D	1	D	0.64830	0.994	P	0.49226	0.603	T	0.68349	-0.5432	10	0.72032	D	0.01	-16.4531	9.4611	0.38785	0.0:0.0:0.1778:0.8221	.	103	P30711	GSTT1_HUMAN	R	30;103	ENSP00000389481:H30R;ENSP00000248935:H103R	ENSP00000248935:H103R	H	-	2	0	GSTT1	22709404	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.059000	0.57470	2.057000	0.61298	0.486000	0.48141	CAC		0.607	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			4	30	0	0	0	1	0	4	30					C	24379404	T	C	24379404	3	2	476	1	0	0	0	0	1	0	0	0	6845	1696	59	3	426	3	GSTT1	22	24379404	Missense_Mutation	SNP	T	TCGA-TM-A84R-01A-21D-A36O-08		24379404	26925162	21	38950											
GLUD2	2747	broad.mit.edu	37	chrX	120182972	120182972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagtttagaaagaaaattTggaaagcatggtggaactat	12	2	0	3			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chrX:120182972T>C	ENST00000328078.1	+	1	1511	c.1434T>C	c.(1432-1434)ttT>ttC	p.F478F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	478					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						AAAGAAAATTTGGAAAGCATG	0.428																																						ENST00000328078.1																			0				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						c.(1432-1434)ttT>ttC		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						145	128	134					X																	120182972		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182972T>C	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.1434T>C	X.37:g.120182972T>C							p.F478F	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1511	+			478					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1434T>C	CCDS14603.1																																																																																				0.428	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		14	70	0	0	0	1	0	14	70					C	120182972	T	C	120182972	2	2	476	1	0	0	0	0	0	0	0	1	6477	1809	63	3		3	GLUD2	23	120182972	Silent	SNP	T	TCGA-TM-A84R-01A-21D-A36O-08		120182972	35087588	22	38951											
ARID1A	8289	broad.mit.edu	37	chr1	27101006	27101006	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcaagatgtatacaacCagtatggcaatgcctatcct	7	11	1	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr1:27101006C>T	ENST00000324856.7	+	18	4659	c.4288C>T	c.(4288-4290)Cag>Tag	p.Q1430*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1430					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)		TGTATACAACCAGTATGGCAA	0.627			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				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						c.(4288-4290)Cag>Tag		AT rich interactive domain 1A (SWI-like)							69	69	69					1																	27101006		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101006C>T	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.4288C>T	1.37:g.27101006C>T	ENSP00000320485:p.Gln1430*					ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*|ARID1A_ENST00000540690.1_Intron	p.Q1430*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		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)	18	4659	+		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)	1430					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4288C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.442164|10.442164	0.99406|0.99406	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000374152	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77961|.	0.4209|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77477|.	-0.2573|.	4|.	.|0.52906	.|T	.|0.07	-6.7802|-6.7802	19.6982|19.6982	0.96039|0.96039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	326|1430;1047	.|.	.|ENSP00000320485:Q1430X	P|Q	+|+	2|1	0|0	ARID1A|ARID1A	26973593|26973593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.236000|7.236000	0.78154|0.78154	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.627	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		9	39	0	0	0	1	0	9	39					T	27101006	C	T	27101006	4	4	477	1	0	0	0	0	0	1	0	0	913	595	21	2	4358	2	ARID1A	1	27101006	Nonsense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		27101006	222149615	1	38952											
CCDC88A	55704	broad.mit.edu	37	chr2	55566774	55566774	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctcatggcccagggaTttctggggtgctataatatt	10	9	3	0			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:55566774T>C	ENST00000436346.1	-	13	2185	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.K448K|CCDC88A_ENST00000336838.6_Silent_p.K448K|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	448					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						GGCCCAGGGATTTCTGGGGTG	0.338																																						ENST00000436346.1																			0				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						c.(1342-1344)aaA>aaG		coiled-coil domain containing 88A							71	72	72					2																	55566774		2203	4300	6503	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55566774T>C	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.1344A>G	2.37:g.55566774T>C						AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K|CCDC88A_ENST00000336838.6_Silent_p.K448K|CCDC88A_ENST00000263630.8_Silent_p.K448K|AC012358.8_ENST00000599352.1_RNA	p.K448K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			13	2185	-			448					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.1344A>G																																																																																					0.338	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		4	50	0	0	0	1	0	4	50					C	55566774	T	C	55566774	2	2	477	1	0	0	0	0	0	0	0	1	2863	1490	52	3		3	CCDC88A	2	55566774	Silent	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08		55566774	187632599	2	38953											
ITGB6	3694	broad.mit.edu	37	chr2	161052119	161052119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcacctgcagagtctgCgcaccacctgcaaagcccaa	8	16	1	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:161052119C>T	ENST00000283249.2	-	4	591	c.354G>A	c.(352-354)gcG>gcA	p.A118A	ITGB6_ENST00000428609.2_Silent_p.A76A|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000409967.2_Silent_p.A118A	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	118					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCAGAGTCTGCGCACCACCTG	0.532																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(352-354)gcG>gcA		integrin, beta 6							64	58	60					2																	161052119		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052119C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.354G>A	2.37:g.161052119C>T						ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.A76A|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000409967.2_Silent_p.A118A	p.A118A			P18564	ITB6_HUMAN			4	591	-			118					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.354G>A	CCDS2212.1																																																																																				0.532	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		3	48	0	0	0	1	0	3	48					T	161052119	C	T	161052119	2	4	477	1	0	0	0	0	0	0	0	1	7899	755	27	1		1	ITGB6	2	161052119	Silent	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	105485345	161052119	82147254	3	38954											
TLK1	9874	broad.mit.edu	37	chr2	171863512	171863512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttctttcttctcatctctcCagcttttattaagctgatgt	4	10	4	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:171863512C>G	ENST00000431350.2	-	15	1882	c.1478G>C	c.(1477-1479)tGg>tCg	p.W493S	TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000442919.2_Missense_Mutation_p.W445S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTCATCTCTCCAGCTTTTATT	0.294																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1333-1335)tGg>tCg		tousled-like kinase 1							87	82	83					2																	171863512		2201	4295	6496	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863512C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1478G>C	2.37:g.171863512C>G	ENSP00000411099:p.Trp493Ser					TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000431350.2_Missense_Mutation_p.W493S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S	p.W445S	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			15	1949	-			493					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1334G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198906	0.79015	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	4.95	4.95	0.65309	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	0.57666	0.2069	N	0.01454	-0.855	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.992;0.99	T	0.75741	-0.3211	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	397;514;493	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	S	445;493;514;445;397	ENSP00000402165:W445S;ENSP00000411099:W493S;ENSP00000354089:W514S;ENSP00000428113:W445S;ENSP00000409222:W397S	ENSP00000354089:W514S	W	-	2	0	TLK1	171571758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.481000	0.83766	0.454000	0.30748	TGG		0.294	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		16	55	0	0	0	1	0	16	55					G	171863512	C	G	171863512	3	3	477	1	0	0	0	0	1	0	0	0	15940	595	21	4	850	4	TLK1	2	171863512	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	10811393	171863512	71335861	4	38955											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	51	0	0	0	1	0	30	51					T	209113112	C	T	209113112	3	4	477	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	37249600	209113112	34086261	5	38956											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	9	5	2	3			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, 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.M1043V(22)		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)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	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						c.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97	87	91					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		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.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	49	0	0	0	1	0	6	49					G	178952072	A	G	178952072	3	3	477	1	0	0	0	0	1	0	0	0	11913	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08		178952072	19070358	6	38957											
SLC45A2	51151	broad.mit.edu	37	chr5	33951714	33951714	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagccccaacatccaacctcGactcctctttcgtagatgag	6	15	1	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:33951714G>A	ENST00000296589.4	-	5	1247	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000382102.3_Silent_p.V367V|SLC45A2_ENST00000345083.5_Silent_p.V259V|SLC45A2_ENST00000509381.1_3'UTR	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	367					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCCAACCTCGACTCCTCTTT	0.453																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1099-1101)gtC>gtT		solute carrier family 45, member 2							171	148	156					5																	33951714		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33951714G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1101C>T	5.37:g.33951714G>A						SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000296589.4_Silent_p.V367V|SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000345083.5_Silent_p.V259V	p.V367V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			5	1158	-			367					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1101C>T	CCDS3901.1																																																																																				0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		16	103	0	0	0	1	0	16	103					A	33951714	G	A	33951714	2	1	477	1	0	0	0	0	0	0	0	1	14641	1045	37	1		1	SLC45A2	5	33951714	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		33951714	146963546	7	38958											
AFF4	27125	broad.mit.edu	37	chr5	132262879	132262879	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagccgttagagggggAggccatgaatgcgtcatctc	14	8	2	3			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:132262879A>G	ENST00000265343.5	-	5	1363	c.984T>C	c.(982-984)ccT>ccC	p.P328P	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P328P	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	328	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAGAGGGGGAGGCCATGAAT	0.333																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(982-984)ccT>ccC		AF4/FMR2 family, member 4							106	113	110					5																	132262879		2203	4300	6503	SO:0001819	synonymous_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132262879A>G	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.984T>C	5.37:g.132262879A>G						AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P328P	p.P328P	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1363	-		all_cancers(142;0.145)|Breast(839;0.198)	328			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	c.984T>C	CCDS4164.1																																																																																				0.333	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		3	48	0	0	0	1	0	3	48					G	132262879	A	G	132262879	2	3	477	1	0	0	0	0	0	0	0	1	359	291	11	3		3	AFF4	5	132262879	Silent	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08	98311165	132262879	48652381	8	38959											
KCNIP1	30820	broad.mit.edu	37	chr5	170160874	170160874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagatggcatcgtaacttTagatgaatttcttgaatcat	7	5	2	4			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:170160874T>C	ENST00000411494.1	+	8	608	c.608T>C	c.(607-609)tTa>tCa	p.L203S	KCNIP1_ENST00000328939.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	203	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGTAACTTTAGATGAATTT	0.428																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(574-576)tTa>tCa		Kv channel interacting protein 1							113	107	109					5																	170160874		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170160874T>C	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"EF-hand domain containing"	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.608T>C	5.37:g.170160874T>C	ENSP00000395323:p.Leu203Ser					KCNIP1_ENST00000411494.1_Missense_Mutation_p.L203S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S	p.L192S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1112	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	203			EF-hand 4.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.575T>C	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589238	0.86851	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.66	5.66	0.87406	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.67145	0.973;0.961;0.996;0.996	P;P;P;P	0.60236	0.871;0.765;0.749;0.831	D	0.89855	0.4012	9	.	.	.	.	13.863	0.63573	0.0:0.0:0.0:1.0	.	217;192;203;201	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	S	201;192;192;164;217;203	ENSP00000366577:L201S;ENSP00000329686:L192S;ENSP00000375071:L192S;ENSP00000431102:L164S;ENSP00000414886:L217S;ENSP00000395323:L203S	.	L	+	2	0	KCNIP1	170093452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.156000	0.67533	0.528000	0.53228	TTA		0.428	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			4	45	0	0	0	1	0	4	45					C	170160874	T	C	170160874	3	2	477	1	0	0	0	0	1	0	0	0	8039	1764	61	3	730	3	KCNIP1	5	170160874	Missense_Mutation	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08	37897995	170160874	10754386	9	38960											
MGAT4B	11282	broad.mit.edu	37	chr5	179228989	179228989	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggtggtaggcaagcCgtcacgagggggcggtctag	18	10	2	0	rs548114496		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:179228989C>T	ENST00000292591.7	-	2	448				MGAT4B_ENST00000337755.5_Silent_p.T41T|MGAT4B_ENST00000521305.1_Intron	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGGCAAGCCGTCACGAGGG	0.627											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		12039	0.0		0.0	False		,,,				2504	0.0				GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(121-123)acG>acA		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							62	71	68					5																	179228989		2203	4300	6503	SO:0001627	intron_variant	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179228989C>T	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.98-20G>A	5.37:g.179228989C>T			OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1952	MGAT4B_ENST00000292591.7_Intron|MGAT4B_ENST00000521305.1_Intron	p.T41T	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1009	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	0					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Silent	SNP	ENST00000292591.7	37	c.123G>A	CCDS4448.1																																																																																				0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		16	69	0	0	0	1	0	16	69					T	179228989	C	T	179228989	1	4	477	0	1	0	0	0	0	0	0	0	9546	639	23	1		1	MGAT4B	5	179228989	Intron	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	9068115	179228989	1686271	10	38961											
CTSL2	1515	broad.mit.edu	37	chr9	99800203	99800203	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcagatgttaccaaccgcGccatataatcttctgtgtgt	7	10	3	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr9:99800203G>C	ENST00000259470.5	-	2	372	c.123C>G	c.(121-123)ggC>ggG	p.G41G	CTSV_ENST00000538255.1_Silent_p.G41G|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	41					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)										TACCAACCGCGCCATATAATC	0.478																																						ENST00000259470.5																			0											c.(121-123)ggC>ggG		cathepsin V							132	134	133					9																	99800203		2203	4300	6503	SO:0001819	synonymous_variant	1515							g.chr9:99800203G>C	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.123C>G	9.37:g.99800203G>C						CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Silent_p.G41G	p.G41G	NM_001333.3	NP_001324.2					2	372	-								O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.123C>G	CCDS6723.1																																																																																				0.478	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		5	69	0	0	0	1	0	5	69					C	99800203	G	C	99800203	2	2	477	1	0	0	0	0	0	0	0	1	4039	1074	38	4		4	CTSL2	9	99800203	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		99800203	41413228	11	38962											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944836	43944836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggccccgcgctccggggttCccaagtgcacctcggtgtag	14	15	0	0			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:43944836C>T	ENST00000389420.3	-	2	328	c.329G>A	c.(328-330)gGa>gAa	p.G110E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	110					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCGGGGTTCCCAAGTGCAC	0.657																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(328-330)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							38	40	40					12																	43944836		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944836C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.329G>A	12.37:g.43944836C>T	ENSP00000374071:p.Gly110Glu					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E	p.G110E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	328	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	110					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.329G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613295	0.87359	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05996	3.36;3.36	4.08	4.08	0.47627	Peptidase M12B, propeptide (1);	0.000000	0.36972	N	0.002320	T	0.25717	0.0626	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02307	-1.1179	10	0.87932	D	0	.	17.1843	0.86862	0.0:1.0:0.0:0.0	.	110	P59510	ATS20_HUMAN	E	110	ENSP00000374071:G110E;ENSP00000448341:G110E	ENSP00000374068:G110E	G	-	2	0	ADAMTS20	42231103	1.000000	0.71417	0.983000	0.44433	0.717000	0.41224	7.135000	0.77276	2.551000	0.86045	0.655000	0.94253	GGA		0.657	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	21	0	0	0	1	0	4	21					T	43944836	C	T	43944836	3	4	477	1	0	0	0	0	1	0	0	0	266	855	30	2	5554	2	ADAMTS20	12	43944836	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		43944836	89907059	12	38963											
ARHGAP9	64333	broad.mit.edu	37	chr12	57867389	57867389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgtcttcctgacctgCataaatgctccaggaggtac	10	11	2	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:57867389C>T	ENST00000356411.2	-	17	2216	c.2078G>A	c.(2077-2079)tGc>tAc	p.C693Y	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.C764Y|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	693	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGACCTGCATAAATGCTC	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2290-2292)tGc>tAc		Rho GTPase activating protein 9							161	140	147					12																	57867389		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867389C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2078G>A	12.37:g.57867389C>T	ENSP00000348782:p.Cys693Tyr					ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.C693Y|ARHGAP9_ENST00000550288.1_3'UTR	p.C764Y			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		20	2483	-			693					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2291G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.523516|2.523516	0.44866|0.44866	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T	.|0.17691	.|2.26;2.26;2.26;2.26;2.26	4.0|4.0	4.0|4.0	0.46444|0.46444	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.429079	.|0.23939	.|N	.|0.043071	T|T	0.23330|0.23330	0.0564|0.0564	N|N	0.13168|0.13168	0.305|0.305	0.41578|0.41578	D|D	0.988727|0.988727	.|D;D;B	.|0.76494	.|0.999;0.999;0.067	.|D;D;B	.|0.87578	.|0.998;0.996;0.356	T|T	0.05886|0.05886	-1.0858|-1.0858	5|10	.|0.54805	.|T	.|0.06	.|.	11.8451|11.8451	0.52378|0.52378	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|693;674;490	.|Q9BRR9;Q9BRR9-2;B4DVI3	.|RHG09_HUMAN;.;.	T|Y	99|674;693;299;764;716;490;163	.|ENSP00000377380:C674Y;ENSP00000348782:C693Y;ENSP00000377386:C764Y;ENSP00000397950:C490Y;ENSP00000448423:C163Y	.|ENSP00000344852:C716Y	A|C	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56153656|56153656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.776000|3.776000	0.55356|0.55356	2.247000|2.247000	0.74100|0.74100	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		11	44	0	0	0	1	0	11	44					T	57867389	C	T	57867389	3	4	477	1	0	0	0	0	1	0	0	0	889	710	25	2	182	2	ARHGAP9	12	57867389	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	13922553	57867389	75984506	13	38964											
C14orf102	55051	broad.mit.edu	37	chr14	90784399	90784399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggagctgcttcagtttgTtggctcagggacgttatgga	15	7	2	0			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr14:90784399T>C	ENST00000354366.3	-	2	355	c.123A>G	c.(121-123)caA>caG	p.Q41Q	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	41																	CTTCAGTTTGTTGGCTCAGGG	0.428																																						ENST00000354366.3																			0											c.(121-123)caA>caG		NRDE-2, necessary for RNA interference, domain containing							151	140	144					14																	90784399		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90784399T>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.123A>G	14.37:g.90784399T>C						NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	p.Q41Q	NM_017970.3	NP_060440.2					2	355	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.123A>G	CCDS9890.1																																																																																				0.428	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		47	94	0	0	0	1	0	47	94					C	90784399	T	C	90784399	2	2	477	1	0	0	0	0	0	0	0	1	1735	1722	60	3		3	C14orf102	14	90784399	Silent	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08		90784399	16565141	14	38965											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827518	43827518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctcttgtgctccactcCcaggggtctcctggagcagc	12	14	2	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr15:43827518C>T	ENST00000396923.3	-	30	3777	c.3656G>A	c.(3655-3657)gGg>gAg	p.G1219E	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1219					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	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)			large_intestine(1)	1						TGCTCCACTCCCAGGGGTCTC	0.527																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(3655-3657)gGg>gAg		diphosphoinositol pentakisphosphate kinase 1							85	84	85					15																	43827518		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827518C>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3656G>A	15.37:g.43827518C>T	ENSP00000380129:p.Gly1219Glu					PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E	p.G1219E	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			31	3838	-			1219					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3656G>A	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005259	0.07866	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	T;T;T;T;T;T;T;T	0.25250	1.84;2.02;2.47;2.02;1.84;1.84;1.81;2.47	5.65	4.64	0.57946	.	0.287482	0.25645	N	0.029253	T	0.14527	0.0351	N	0.21448	0.665	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.002	T	0.07947	-1.0746	10	0.30854	T	0.27	-3.1822	5.4706	0.16668	0.0:0.81:0.0:0.19	.	1192;1219;1194	Q6PFW1-7;Q6PFW1;Q6PFW1-3	.;VIP1_HUMAN;.	E	1215;1194;1192;1194;1219;1219;1194;1219;1195;1192	ENSP00000371309:G1215E;ENSP00000353446:G1194E;ENSP00000353253:G1192E;ENSP00000334779:G1194E;ENSP00000380129:G1219E;ENSP00000400887:G1219E;ENSP00000371303:G1195E;ENSP00000308773:G1192E	ENSP00000304750:G1219E	G	-	2	0	PPIP5K1	41614810	0.344000	0.24827	0.413000	0.26509	0.161000	0.22273	2.129000	0.42055	2.679000	0.91253	0.655000	0.94253	GGG		0.527	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		32	58	0	0	0	1	0	32	58					T	43827518	C	T	43827518	3	4	477	1	0	0	0	0	1	0	0	0	12332	623	22	2	649	2	PPIP5K1	15	43827518	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		43827518	58703874	15	38966											
ADCY9	115	broad.mit.edu	37	chr16	4016307	4016307	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacagcagcttggtggtgccGatgaccccggccgtgagggg	17	11	0	2	rs146365616		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:4016307G>A	ENST00000294016.3	-	11	4069	c.3531C>T	c.(3529-3531)atC>atT	p.I1177I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1177	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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						TGGTGGTGCCGATGACCCCGG	0.607																																						ENST00000294016.3																			0				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						c.(3529-3531)atC>atT		adenylate cyclase 9		G		0,4394		0,0,2197	90	80	83		3531	-5.9	0.9	16	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1177/1354	4016307	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016307G>A	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.3531C>T	16.37:g.4016307G>A							p.I1177I	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4069	-			1177			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3531C>T	CCDS32382.1																																																																																				0.607	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			12	86	0	0	0	1	0	12	86					A	4016307	G	A	4016307	2	1	477	1	0	0	0	0	0	0	0	1	301	1048	37	1		1	ADCY9	16	4016307	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		4016307	86338446	16	38967											
AARS	16	broad.mit.edu	37	chr16	70295033	70295033	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacataccctcctcggacctGagcattcttcactgtaaact	5	15	2	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:70295033G>C	ENST00000261772.8	-	13	1842	c.1699C>G	c.(1699-1701)Cag>Gag	p.Q567E	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CCTCGGACCTGAGCATTCTTC	0.398																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1699-1701)Cag>Gag		alanyl-tRNA synthetase	L-Alanine(DB00160)						126	112	117					16																	70295033		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70295033G>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1699C>G	16.37:g.70295033G>C	ENSP00000261772:p.Gln567Glu					AARS_ENST00000564359.1_5'UTR	p.Q567E	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	13	1842	-		Ovarian(137;0.0365)	567						Missense_Mutation	SNP	ENST00000261772.8	37	c.1699C>G	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245266	0.95272	.	.	ENSG00000090861	ENST00000261772	T	0.73258	-0.73	5.94	5.94	0.96194	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.055566	0.85682	D	0.000000	D	0.87051	0.6081	M	0.90595	3.13	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.68483	0.958;0.958	D	0.88865	0.3329	10	0.87932	D	0	-23.4379	17.8614	0.88783	0.0:0.0:1.0:0.0	.	575;567	E7ETK8;P49588	.;SYAC_HUMAN	E	567	ENSP00000261772:Q567E	ENSP00000261772:Q567E	Q	-	1	0	AARS	68852534	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	7.943000	0.87716	2.823000	0.97156	0.637000	0.83480	CAG		0.398	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		19	39	0	0	0	1	0	19	39					C	70295033	G	C	70295033	3	2	477	1	0	0	0	0	1	0	0	0	19	1299	45	4	1243	4	AARS	16	70295033	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08	66278726	70295033	20059720	17	38968											
ZNF18	7566	broad.mit.edu	37	chr17	11881794	11881794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggacatttctcctgaatgaGgattaggcaaatgctgacct	10	8	1	3			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:11881794G>T	ENST00000322748.3	-	9	1734	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H|ZNF18_ENST00000580306.2_Missense_Mutation_p.P377H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	377					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)		TCCTGAATGAGGATTAGGCAA	0.532																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1129-1131)cCt>cAt		zinc finger protein 18							87	94	92					17																	11881794		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881794G>T	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.1130C>A	17.37:g.11881794G>T	ENSP00000315664:p.Pro377His					ZNF18_ENST00000580306.1_Missense_Mutation_p.P377H|ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H	p.P377H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	1734	-			377					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.1130C>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.672038	0.14776	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.07444	3.19	4.9	2.92	0.33932	.	0.369623	0.23526	N	0.047235	T	0.08133	0.0203	N	0.19112	0.55	0.09310	N	1	D;P	0.54964	0.969;0.948	P;B	0.49528	0.614;0.41	T	0.13980	-1.0489	10	0.66056	D	0.02	-2.9516	8.8319	0.35089	0.1854:0.0:0.8146:0.0	.	376;377	P17022-2;P17022	.;ZNF18_HUMAN	H	377	ENSP00000315664:P377H	ENSP00000315664:P377H	P	-	2	0	ZNF18	11822519	0.314000	0.24563	0.003000	0.11579	0.139000	0.21198	2.729000	0.47327	1.380000	0.46344	-0.262000	0.10625	CCT		0.532	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		32	60	1	0	1.7881e-09	1	1.7881e-09	32	60					T	11881794	G	T	11881794	3	4	477	1	0	0	0	0	1	0	0	0	17744	1000	35	4	523	4	ZNF18	17	11881794	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		11881794	69313416	18	38969											
MYO19	80179	broad.mit.edu	37	chr17	34862971	34862971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctgggtcgattgaggCggcattcctgtgggatggga	18	8	0	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:34862971C>T	ENST00000431794.3	-	17	1997	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	492	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGATTGAGGCGGCATTCCTG	0.637																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1474-1476)cGc>cAc		myosin XIX							60	60	60					17																	34862971		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34862971C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1475G>A	17.37:g.34862971C>T	ENSP00000409936:p.Arg492His					MYO19_ENST00000268852.9_Intron	p.R492H	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	17	1997	-		Breast(25;0.00957)|Ovarian(249;0.17)	492			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1475G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718501	0.89205	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.95447	-3.71	5.26	4.28	0.50868	Myosin head, motor domain (2);	.	.	.	.	D	0.96898	0.8987	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97140	0.9824	9	0.59425	D	0.04	.	14.635	0.68682	0.0:0.8533:0.1466:0.0	.	492	Q96H55	MYO19_HUMAN	H	227;492	ENSP00000409936:R492H	ENSP00000397134:R227H	R	-	2	0	MYO19	31937084	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	3.455000	0.52993	1.426000	0.47256	0.655000	0.94253	CGC		0.637	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		7	43	0	0	0	1	0	7	43					T	34862971	C	T	34862971	3	4	477	1	0	0	0	0	1	0	0	0	10067	768	27	1	1477	1	MYO19	17	34862971	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	22981177	34862971	46332239	19	38970											
ITGB3	3690	broad.mit.edu	37	chr17	45377877	45377877	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagaagtttgaccggggAgccctacatgacgaaaatac	11	8	0	3			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:45377877A>G	ENST00000559488.1	+	12	1963	c.1947A>G	c.(1945-1947)ggA>ggG	p.G649G	RP11-290H9.4_ENST00000575039.1_RNA|RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000435993.2_Silent_p.G602G|ITGB3_ENST00000560629.1_Missense_Mutation_p.S638G	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	649				GALHD -> EPYMT (in Ref. 1; AAA52589, 2; AAA60122 and 4; AAB71380). {ECO:0000305}.	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)	TTGACCGGGGAGCCCTACATG	0.483																																						ENST00000560629.1																			0				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						c.(1912-1914)Agc>Ggc		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						146	119	129					17																	45377877		2203	4300	6503	SO:0001819	synonymous_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45377877A>G		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.1947A>G	17.37:g.45377877A>G						ITGB3_ENST00000559488.1_Silent_p.G649G|ITGB3_ENST00000435993.2_Silent_p.G602G	p.S638G			P05106	ITB3_HUMAN			12	1912	+			0					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1912A>G	CCDS11511.1																																																																																				0.483	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		3	39	0	0	0	1	0	3	39					G	45377877	A	G	45377877	2	3	477	1	0	0	0	0	0	0	0	1	7895	291	11	3		3	ITGB3	17	45377877	Silent	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08	10514906	45377877	35817333	20	38971											
FKBP8	23770	broad.mit.edu	37	chr19	18652528	18652528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggggccggggctggggCgggctcgggctccatggcag	21	11	1	0	rs374983500		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:18652528C>T	ENST00000596558.2	-	2	362	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000222308.4_Missense_Mutation_p.A85T|FKBP8_ENST00000597960.3_Missense_Mutation_p.A85T|FKBP8_ENST00000610101.1_Missense_Mutation_p.A85T|FKBP8_ENST00000608443.1_Missense_Mutation_p.A85T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	85	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGGCTGGGGCGGGCTCGGGC	0.692																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(253-255)Gcc>Acc		FK506 binding protein 8, 38kDa		C	THR/ALA	0,4398		0,0,2199	22	27	25		253	1.9	0	19		25	1,8593		0,1,4296	no	missense	FKBP8	NM_012181.3	58	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	85/414	18652528	1,12991	2199	4297	6496	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18652528C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.253G>A	19.37:g.18652528C>T	ENSP00000472302:p.Ala85Thr					FKBP8_ENST00000596558.1_Missense_Mutation_p.A85T|FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000544835.2_Missense_Mutation_p.A85T|FKBP8_ENST00000222308.3_Missense_Mutation_p.A85T	p.A85T			Q14318	FKBP8_HUMAN			2	373	-			85			Glu-rich.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.253G>A		.	.	.	.	.	.	.	.	.	.	C	7.399	0.632364	0.14322	0.0	1.16E-4	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.36878	1.23;1.85;1.48	2.98	1.91	0.25777	.	0.996520	0.08131	N	0.993175	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B;P;P	0.46987	0.021;0.821;0.888	B;B;B	0.27500	0.004;0.036;0.08	T	0.04333	-1.0959	10	0.13108	T	0.6	-12.9763	7.939	0.29946	0.0:0.7453:0.2547:0.0	.	114;85;85	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	T	85;85;114	ENSP00000222308:A85T;ENSP00000441267:A85T;ENSP00000388891:A114T	ENSP00000222308:A85T	A	-	1	0	FKBP8	18513528	0.001000	0.12720	0.015000	0.15790	0.333000	0.28666	0.503000	0.22610	0.813000	0.34350	0.491000	0.48974	GCC		0.692	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		15	25	0	0	0	1	0	15	25					T	18652528	C	T	18652528	3	4	477	1	0	0	0	0	1	0	0	0	5914	768	27	1	1020	1	FKBP8	19	18652528	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		18652528	40476455	21	38972											
ZNF577	84765	broad.mit.edu	37	chr19	52375975	52375975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcttgtttaacaatggcGgggttcctgaggaaggcatt	12	8	1	1	rs376895478		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:52375975G>A	ENST00000301399.5	-	7	1633	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	ZNF577_ENST00000420592.1_Missense_Mutation_p.P364L|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	423					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.P416Q(1)		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)		TAACAATGGCGGGGTTCCTGA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0					ENST00000420592.1																			1	Substitution - Missense(1)	p.P416Q(1)	lung(1)	breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1090-1092)cCg>cTg		zinc finger protein 577		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	67	67	67		1091,1268	-2.8	0	19		67	2,8598		1,0,4299	no	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	98,98	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	364/427,423/486	52375975	2,13004	2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375975G>A	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.1268C>T	19.37:g.52375975G>A	ENSP00000301399:p.Pro423Leu					ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.P423L	p.P364L			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2424	-		all_neural(266;0.0602)	423					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.1091C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	5.292	0.239232	0.10023	0.0	2.33E-4	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06294	3.32;3.4;3.4;3.34	2.51	-2.77	0.05877	.	.	.	.	.	T	0.03783	0.0107	N	0.22421	0.69	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.09377	0.002;0.004	T	0.42498	-0.9448	9	0.31617	T	0.26	.	5.4954	0.16799	0.0:0.2369:0.5182:0.2449	.	423;364	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	L	423;364;364;423	ENSP00000301399:P423L;ENSP00000413476:P364L;ENSP00000389652:P364L;ENSP00000404509:P423L	ENSP00000301399:P423L	P	-	2	0	ZNF577	57067787	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.638000	0.05452	-0.832000	0.04251	-1.028000	0.02416	CCG		0.428	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		5	53	0	0	0	1	0	5	53					A	52375975	G	A	52375975	3	1	477	1	0	0	0	0	1	0	0	0	18006	1116	39	1	193	1	ZNF577	19	52375975	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08	33723447	52375975	6753008	22	38973											
KIAA0406	9675	broad.mit.edu	37	chr20	36641143	36641143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactactttttgatctGcaaaatgtctcagaacttta	4	11	2	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr20:36641143G>A	ENST00000373448.2	-	3	1314	c.1076C>T	c.(1075-1077)gCa>gTa	p.A359V	TTI1_ENST00000449821.1_Missense_Mutation_p.A359V|TTI1_ENST00000373447.3_Missense_Mutation_p.A359V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	359					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTTTGATCTGCAAAATGTCT	0.478																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1075-1077)gCa>gTa		TELO2 interacting protein 1							151	154	153					20																	36641143		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641143G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1076C>T	20.37:g.36641143G>A	ENSP00000362547:p.Ala359Val					TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.A359V|TTI1_ENST00000373447.3_Missense_Mutation_p.A359V	p.A359V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1314	-			359					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1076C>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367048	0.61513	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.66995	-0.24;-0.24;-0.24	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.107149	0.64402	D	0.000004	T	0.66197	0.2765	M	0.74881	2.28	0.47407	D	0.999415	P	0.38597	0.639	B	0.36959	0.237	T	0.64939	-0.6289	10	0.30078	T	0.28	0.2745	14.6338	0.68676	0.0:0.2509:0.7491:0.0	.	359	O43156	TTI1_HUMAN	V	359	ENSP00000362547:A359V;ENSP00000362546:A359V;ENSP00000407270:A359V	ENSP00000362546:A359V	A	-	2	0	TTI1	36074557	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	3.280000	0.51677	2.937000	0.99478	0.650000	0.86243	GCA		0.478	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		4	142	0	0	0	1	0	4	142					A	36641143	G	A	36641143	3	1	477	1	0	0	0	0	1	0	0	0	8173	1319	46	2	2221	2	KIAA0406	20	36641143	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		36641143	26384377	23	38974											
GRAP2	9402	broad.mit.edu	37	chr22	40343126	40343126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcatggaagctgttgccAagtttgatttcactgcttca	9	9	2	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr22:40343126A>G	ENST00000344138.4	+	2	279	c.16A>G	c.(16-18)Aag>Gag	p.K6E	GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E|GRAP2_ENST00000544756.1_5'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	6	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTGTTGCCAAGTTTGATTT	0.527																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(16-18)Aag>Gag		GRB2-related adaptor protein 2							180	163	169					22																	40343126		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40343126A>G	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.16A>G	22.37:g.40343126A>G	ENSP00000339186:p.Lys6Glu					GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E	p.K6E	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			2	279	+			6			SH3 1.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.16A>G	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636094	0.87760	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.65	5.65	0.86999	Src homology-3 domain (4);	0.044035	0.85682	D	0.000000	T	0.62441	0.2428	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60712	-0.7209	10	0.37606	T	0.19	-41.615	13.4087	0.60929	1.0:0.0:0.0:0.0	.	6;6	Q6FI14;O75791	.;GRAP2_HUMAN	E	6	ENSP00000339186:K6E;ENSP00000446350:K6E;ENSP00000396355:K6E;ENSP00000385607:K6E	ENSP00000339186:K6E	K	+	1	0	GRAP2	38673072	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.800000	0.69108	2.150000	0.67090	0.455000	0.32223	AAG		0.527	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		5	73	0	0	0	1	0	5	73					G	40343126	A	G	40343126	3	3	477	1	0	0	0	0	1	0	0	0	6754	131	5	3	18	3	GRAP2	22	40343126	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08		40343126	10961440	24	38975											
SDCCAG8	10806	broad.mit.edu	37	chr1	243480092	243480092	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgcactagtttccgTaaggagcagcttggcagata	12	8	1	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:243480092T>G	ENST00000366541.3	+	9	1083	c.965T>G	c.(964-966)gTa>gGa	p.V322G	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	322	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTAGTTTCCGTAAGGAGCAGC	0.403																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(964-966)gTa>gGa		serologically defined colon cancer antigen 8							96	92	93					1																	243480092		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243480092T>G	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.965T>G	1.37:g.243480092T>G	ENSP00000355499:p.Val322Gly					SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G	p.V322G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	9	1083	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	322			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.965T>G	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147290	0.57151	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.63	4.46	0.54185	.	0.370916	0.27946	N	0.017220	T	0.58221	0.2107	M	0.67953	2.075	0.24684	N	0.99335	P;D	0.56968	0.867;0.978	B;P	0.53649	0.408;0.731	T	0.50906	-0.8772	10	0.23891	T	0.37	-3.8718	9.2825	0.37737	0.0:0.0901:0.0:0.9099	.	279;322	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	G	279;322;322;177;102	ENSP00000348137:V279G;ENSP00000375721:V322G;ENSP00000355499:V322G;ENSP00000341260:V177G;ENSP00000410200:V102G	ENSP00000341260:V177G	V	+	2	0	SDCCAG8	241546715	0.732000	0.28121	0.020000	0.16555	0.816000	0.46133	3.452000	0.52971	1.020000	0.39573	0.533000	0.62120	GTA		0.403	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		16	25	0	0	0	1	0	16	25					G	243480092	T	G	243480092	3	3	478	1	0	0	0	0	1	0	0	0	13959	1638	57	5	999	5	SDCCAG8	1	243480092	Missense_Mutation	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		243480092	5770529	1	38976											
OR2C3	81472	broad.mit.edu	37	chr1	247695157	247695157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcccgggcaatgtggccGtaagagaccaggatgagccc	15	12	0	2	rs570164676		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219						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)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(655-657)taC>taT		olfactory receptor, family 2, subfamily C, member 3							88	86	87					1																	247695157		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695157G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.657C>T	1.37:g.247695157G>A						GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	p.Y219Y	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1018	-	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;0.0242)	219					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.657C>T	CCDS1634.2																																																																																				0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		15	14	0	0	0	1	0	15	14					A	247695157	G	A	247695157	2	1	478	1	0	0	0	0	0	0	0	1	10993	1140	40	1		1	OR2C3	1	247695157	Silent	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	4215065	247695157	1555464	2	38977											
SLC8A1	6546	broad.mit.edu	37	chr2	40656574	40656574	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatttcagtcttagaagatgGcctgtctccttcatgttcaa	7	9	5	2			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:40656574G>C	ENST00000403092.1	-	2	880	c.847C>G	c.(847-849)Cca>Gca	p.P283A	SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000406785.2_Missense_Mutation_p.P283A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	283					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAGAAGATGGCCTGTCTCCT	0.443																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(847-849)Cca>Gca		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						191	193	192					2																	40656574		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656574G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.847C>G	2.37:g.40656574G>C	ENSP00000384763:p.Pro283Ala					SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A	p.P283A			P32418	NAC1_HUMAN			2	1036	-			283					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.847C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099882	0.37048	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.26957	1.71;1.73;1.73;1.73;1.71;1.71;1.73;1.7;1.71;1.72	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.43152	1.355	0.80722	D	1	D;D;B;B;B	0.71674	0.971;0.998;0.091;0.034;0.02	D;D;B;B;B	0.85130	0.929;0.997;0.158;0.024;0.079	T	0.03202	-1.1061	10	0.16420	T	0.52	.	17.9158	0.88950	0.0:0.0:1.0:0.0	.	283;283;283;283;283	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	A	283	ENSP00000383886:P283A;ENSP00000440727:P283A;ENSP00000384763:P283A;ENSP00000385678:P283A;ENSP00000385188:P283A;ENSP00000385535:P283A;ENSP00000332931:P283A;ENSP00000384908:P283A;ENSP00000385811:P283A;ENSP00000443515:P283A	ENSP00000332931:P283A	P	-	1	0	SLC8A1	40510078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.423000	0.97461	2.832000	0.97577	0.655000	0.94253	CCA		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		66	86	0	0	0	1	0	66	86					C	40656574	G	C	40656574	3	2	478	1	0	0	0	0	1	0	0	0	14706	1203	42	4	2222	4	SLC8A1	2	40656574	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		40656574	202542799	3	38978											
SGOL2	151246	broad.mit.edu	37	chr2	201435848	201435848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgcccagtctattggccGcagatgggagaaaccatctc	10	12	2	2	rs372665931		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201435848G>A	ENST00000357799.4	+	7	877	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	260					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCTATTGGCCGCAGATGGGAG	0.428																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(778-780)cGc>cAc		shugoshin-like 2 (S. pombe)		A	HIS/ARG,HIS/ARG,HIS/ARG	1,3699		0,1,1849	96	88	90		779,779,779	1.5	0	2		90	0,8176		0,0,4088	no	missense,missense,missense	SGOL2	NM_001160033.1,NM_001160046.1,NM_152524.5	29,29,29	0,1,5937	AA,AG,GG		0.0,0.027,0.0084	benign,benign,benign	260/1261,260/1262,260/1266	201435848	1,11875	1850	4088	5938	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201435848G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.779G>A	2.37:g.201435848G>A	ENSP00000350447:p.Arg260His						p.R260H	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	877	+			260					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.779G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.929213	0.00493	2.7E-4	0.0	ENSG00000163535	ENST00000357799	T	0.12039	2.72	5.34	1.54	0.23209	.	0.861914	0.10322	N	0.688648	T	0.02267	0.0070	N	0.00347	-1.61	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	0.41893	-0.9483	10	0.05959	T	0.93	3.0775	1.4786	0.02432	0.3512:0.2444:0.0774:0.327	.	260;260;260	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	260	ENSP00000350447:R260H	ENSP00000350447:R260H	R	+	2	0	SGOL2	201144093	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.049000	0.11924	-0.111000	0.12001	-0.269000	0.10298	CGC		0.428	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		3	48	0	0	0	1	0	3	48					A	201435848	G	A	201435848	3	1	478	1	0	0	0	0	1	0	0	0	14217	1087	38	1	801	1	SGOL2	2	201435848	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	160779274	201435848	41763525	4	38979											
SGOL2	151246	broad.mit.edu	37	chr2	201437991	201437991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaaggaaagttgtgaTcaaattttagattcctacaa	7	4	1	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201437991T>C	ENST00000357799.4	+	7	3020	c.2922T>C	c.(2920-2922)gaT>gaC	p.D974D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	974					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTTGTGATCAAATTTTAG	0.284																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2920-2922)gaT>gaC		shugoshin-like 2 (S. pombe)							41	40	40					2																	201437991		1820	4068	5888	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437991T>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2922T>C	2.37:g.201437991T>C							p.D974D	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3020	+			974					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.2922T>C	CCDS42796.1																																																																																				0.284	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		4	53	0	0	0	1	0	4	53					C	201437991	T	C	201437991	2	2	478	1	0	0	0	0	0	0	0	1	14217	1432	50	3		3	SGOL2	2	201437991	Silent	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08	2143	201437991	41761382	5	38980											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	43	0	0	0	1	0	23	43					T	209113112	C	T	209113112	3	4	478	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	7675121	209113112	34086261	6	38981											
SKIL	6498	broad.mit.edu	37	chr3	170078468	170078468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcattcccaagaaagcatgTcgcctactgtatttctgcct	8	12	1	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr3:170078468T>C	ENST00000458537.3	+	1	1058	c.349T>C	c.(349-351)Tcg>Ccg	p.S117P	SKIL_ENST00000426052.2_Missense_Mutation_p.S97P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000413427.2_Missense_Mutation_p.S117P	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	117					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)			AGAAAGCATGTCGCCTACTGT	0.493																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(349-351)Tcg>Ccg		SKI-like oncogene							181	186	184					3																	170078468		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078468T>C	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.349T>C	3.37:g.170078468T>C	ENSP00000415243:p.Ser117Pro					SKIL_ENST00000426052.2_Missense_Mutation_p.S97P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000413427.2_Missense_Mutation_p.S117P	p.S117P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1058	+	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)		117					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.349T>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726127	0.48833	.	.	ENSG00000136603	ENST00000476188;ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D;D	0.91843	-2.7;-2.92;-2.92;-2.89;-2.92	5.88	3.4	0.38934	.	0.147425	0.47852	D	0.000215	D	0.93491	0.7923	L	0.60455	1.87	0.44918	D	0.997935	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91047	0.4875	10	0.32370	T	0.25	-15.2425	7.9904	0.30237	0.1219:0.0665:0.0:0.8116	.	117;117	P12757-3;P12757	.;SKIL_HUMAN	P	117;117;97;117;117	ENSP00000417670:S117P;ENSP00000259119:S117P;ENSP00000406520:S97P;ENSP00000400193:S117P;ENSP00000415243:S117P	ENSP00000259119:S117P	S	+	1	0	SKIL	171561162	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	3.106000	0.50322	1.062000	0.40625	0.472000	0.43445	TCG		0.493	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		42	86	0	0	0	1	0	42	86					C	170078468	T	C	170078468	3	2	478	1	0	0	0	0	1	0	0	0	14358	1667	58	3	351	3	SKIL	3	170078468	Missense_Mutation	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		170078468	27943962	7	38982											
FAT1	2195	broad.mit.edu	37	chr4	187524178	187524178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagccatggtggacaggtggGcaccttccctcttcattcaa	10	13	3	0			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr4:187524178G>C	ENST00000441802.2	-	20	11570	c.11361C>G	c.(11359-11361)tgC>tgG	p.C3787W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3787					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						GGACAGGTGGGCACCTTCCCT	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				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						c.(11359-11361)tgC>tgG		FAT atypical cadherin 1							88	88	88					4																	187524178		1982	4165	6147	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524178G>C	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.11361C>G	4.37:g.187524178G>C	ENSP00000406229:p.Cys3787Trp	HNSCC(5;0.00058)					p.C3787W	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			20	11570	-			3787						Missense_Mutation	SNP	ENST00000441802.2	37	c.11361C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108421	0.37242	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.47177	0.85	5.26	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79070	-0.1954	10	0.87932	D	0	.	14.0218	0.64560	0.0735:0.0:0.9265:0.0	.	3787	Q14517	FAT1_HUMAN	W	3787;3789	ENSP00000406229:C3787W	ENSP00000260147:C3789W	C	-	3	2	FAT1	187761172	1.000000	0.71417	0.997000	0.53966	0.102000	0.19082	2.359000	0.44142	1.336000	0.45506	0.557000	0.71058	TGC		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	29	0	0	0	1	0	11	29					C	187524178	G	C	187524178	3	2	478	1	0	0	0	0	1	0	0	0	5689	1195	42	4	2437	4	FAT1	4	187524178	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		187524178	3630098	8	38983											
MAP1B	4131	broad.mit.edu	37	chr5	71493288	71493288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaattcagtgatgccaAagatgagaatgaaagggctt	11	4	1	5			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr5:71493288A>G	ENST00000296755.7	+	5	4404	c.4106A>G	c.(4105-4107)aAa>aGa	p.K1369R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1369					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)		AGTGATGCCAAAGATGAGAAT	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				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						c.(4105-4107)aAa>aGa		microtubule-associated protein 1B							79	81	80					5																	71493288		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493288A>G	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.4106A>G	5.37:g.71493288A>G	ENSP00000296755:p.Lys1369Arg						p.K1369R	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4404	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1369					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4106A>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666282	0.47677	.	.	ENSG00000131711	ENST00000296755	T	0.03745	3.82	5.19	5.19	0.71726	.	0.186500	0.37906	N	0.001886	T	0.10252	0.0251	L	0.27053	0.805	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.14035	-1.0487	10	0.62326	D	0.03	-23.7508	15.217	0.73277	1.0:0.0:0.0:0.0	.	1243;1369	A2BDK6;P46821	.;MAP1B_HUMAN	R	1369	ENSP00000296755:K1369R	ENSP00000296755:K1369R	K	+	2	0	MAP1B	71529044	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.218000	0.65257	2.187000	0.69744	0.459000	0.35465	AAA		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		25	31	0	0	0	1	0	25	31					G	71493288	A	G	71493288	3	3	478	1	0	0	0	0	1	0	0	0	9228	14	1	3	4124	3	MAP1B	5	71493288	Missense_Mutation	SNP	A	TCGA-TM-A84T-01A-11D-A36O-08		71493288	109421972	9	38984											
ANLN	54443	broad.mit.edu	37	chr7	36462337	36462337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccaaagtgaatttatgCcatccaaaggatcagttact	7	10	1	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:36462337C>T	ENST00000265748.2	+	14	2616	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	799	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATTTATGCCATCCAAAGG	0.403																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2395-2397)Cca>Tca		anillin, actin binding protein							194	192	193					7																	36462337		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36462337C>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2395C>T	7.37:g.36462337C>T	ENSP00000265748:p.Pro799Ser					ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	p.P799S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			14	2616	+			799			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2395C>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517237	0.64634	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.51817	0.69;0.69	5.96	3.07	0.35406	.	0.149278	0.64402	D	0.000009	T	0.66733	0.2819	M	0.65498	2.005	0.46298	D	0.998974	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.97110	1.0;0.958;0.929;0.958	T	0.69347	-0.5169	10	0.62326	D	0.03	-6.3867	16.3722	0.83368	0.0:0.6273:0.3727:0.0	.	676;761;762;799	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	S	799;762	ENSP00000265748:P799S;ENSP00000379380:P762S	ENSP00000265748:P799S	P	+	1	0	ANLN	36428862	0.954000	0.32549	0.980000	0.43619	0.776000	0.43924	2.120000	0.41968	0.359000	0.24239	0.585000	0.79938	CCA		0.403	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		5	114	0	0	0	1	0	5	114					T	36462337	C	T	36462337	3	4	478	1	0	0	0	0	1	0	0	0	694	739	26	2	2449	2	ANLN	7	36462337	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		36462337	122676326	10	38985											
GALNT11	63917	broad.mit.edu	37	chr7	151791479	151791479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatctccaaaaaaattctAtccccgtttcactcgaggcc	4	15	3	0			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:151791479A>G	ENST00000434507.1	+	4	604	c.167A>G	c.(166-168)tAt>tGt	p.Y56C	GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000452146.2_Intron			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	56					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAAAAATTCTATCCCCGTTTC	0.463																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(166-168)tAt>tGt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							95	98	97					7																	151791479		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151791479A>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.167A>G	7.37:g.151791479A>G	ENSP00000416787:p.Tyr56Cys					GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C	p.Y56C			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	4	604	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	56					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.167A>G	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915255	0.73098	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	D;D;D;D;D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.66	5.66	0.87406	.	1.254820	0.05350	N	0.531657	D	0.94561	0.8248	M	0.71581	2.175	0.43214	D	0.99508	D;P	0.76494	0.999;0.943	D;P	0.65443	0.935;0.525	D	0.86419	0.1753	10	0.46703	T	0.11	.	15.9039	0.79403	1.0:0.0:0.0:0.0	.	56;56	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	C	56	ENSP00000395122:Y56C;ENSP00000395020:Y56C;ENSP00000414890:Y56C;ENSP00000393892:Y56C;ENSP00000416787:Y56C;ENSP00000410093:Y56C;ENSP00000315835:Y56C;ENSP00000397581:Y56C;ENSP00000412142:Y56C;ENSP00000389449:Y56C	ENSP00000315835:Y56C	Y	+	2	0	GALNT11	151422412	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	5.614000	0.67695	2.158000	0.67659	0.460000	0.39030	TAT		0.463	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		29	62	0	0	0	1	0	29	62					G	151791479	A	G	151791479	3	3	478	1	0	0	0	0	1	0	0	0	6209	449	16	3	169	3	GALNT11	7	151791479	Missense_Mutation	SNP	A	TCGA-TM-A84T-01A-11D-A36O-08	115329142	151791479	7347184	11	38986											
NUP188	23511	broad.mit.edu	37	chr9	131747270	131747270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttactattgcctttctgCgcttgatcaccacccttgtc	8	13	2	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr9:131747270C>T	ENST00000372577.2	+	20	2074	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	685					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						TGCCTTTCTGCGCTTGATCAC	0.468											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000372577.2																			0				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						c.(2053-2055)Cgc>Tgc		nucleoporin 188kDa							199	159	173					9																	131747270		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131747270C>T	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.2053C>T	9.37:g.131747270C>T	ENSP00000361658:p.Arg685Cys		OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1590		p.R685C	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			20	2074	+			685					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2053C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655202	0.67472	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32023	1.47	5.86	5.86	0.93980	.	0.212158	0.46758	D	0.000265	T	0.36963	0.0986	N	0.19112	0.55	0.58432	D	0.999997	B;D	0.76494	0.267;0.999	B;P	0.60886	0.023;0.88	T	0.08785	-1.0705	10	0.48119	T	0.1	-12.4648	14.6354	0.68686	0.1545:0.8455:0.0:0.0	.	18;685	E9PET9;Q5SRE5	.;NU188_HUMAN	C	574;685	ENSP00000361658:R685C	ENSP00000349125:R574C	R	+	1	0	NUP188	130787091	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	3.395000	0.52558	2.777000	0.95525	0.591000	0.81541	CGC		0.468	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			16	45	0	0	0	1	0	16	45					T	131747270	C	T	131747270	3	4	478	1	0	0	0	0	1	0	0	0	10758	768	27	1	2131	1	NUP188	9	131747270	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		131747270	9466161	12	38987											
KIAA1217	56243	broad.mit.edu	37	chr10	24813550	24813550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggccagctccccagccGtcccccaggaagcaacctcc	9	20	0	0	rs151027148	byFrequency	TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr10:24813550G>A	ENST00000376454.3	+	13	2785	c.2755G>A	c.(2755-2757)Gtc>Atc	p.V919I	KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V602I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	919					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						CTCCCCAGCCGTCCCCCAGGA	0.622													G|||	4	0.000798722	0.0008	0.0	5008	,	,		18043	0.003		0.0	False		,,,				2504	0.0					ENST00000376451.2																			0				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						c.(1804-1806)Gtc>Atc		KIAA1217		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	46	42	43		2515,2650,2755	-3.5	0	10	dbSNP_134	43	0,8600		0,0,4300	yes	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	839/1265,884/1310,919/1944	24813550	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813550G>A	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.2755G>A	10.37:g.24813550G>A	ENSP00000365637:p.Val919Ile					KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I	p.V602I			Q5T5P2	SKT_HUMAN			8	2064	+			919					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1804G>A	CCDS31165.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	3.166	-0.171150	0.06421	2.27E-4	0.0	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.27	-3.48	0.04739	.	2.026020	0.02431	N	0.083525	T	0.17789	0.0427	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.15473	0.004;0.013;0.002;0.002;0.007;0.002;0.013;0.001	B;B;B;B;B;B;B;B	0.09377	0.004;0.002;0.002;0.002;0.003;0.002;0.004;0.001	T	0.15122	-1.0448	10	0.33141	T	0.24	.	6.2182	0.20667	0.4404:0.3461:0.2135:0.0	.	884;884;602;602;602;602;919;919	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	I	839;884;884;602;919;884;734;602;602;602;602;602	ENSP00000365645:V839I;ENSP00000365639:V884I;ENSP00000392625:V884I;ENSP00000365637:V919I;ENSP00000365635:V884I;ENSP00000404798:V734I;ENSP00000302343:V602I;ENSP00000379722:V602I;ENSP00000365634:V602I;ENSP00000379723:V602I	ENSP00000302343:V602I	V	+	1	0	KIAA1217	24853556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.549000	0.06041	-0.252000	0.09528	-0.258000	0.10820	GTC		0.622	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		11	11	0	0	0	1	0	11	11					A	24813550	G	A	24813550	3	1	478	1	0	0	0	0	1	0	0	0	8216	1145	40	1	2805	1	KIAA1217	10	24813550	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		24813550	110721197	13	38988											
TGM5	9333	broad.mit.edu	37	chr15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccactccgcagggttggCgccgtctgtgtaattctcac	11	14	2	0	rs113766373		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGGTTGGCGCCGTCTGTG	0.547																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(748-750)Gcc>Acc		transglutaminase 5	L-Glutamine(DB00130)						84	74	77					15																	43545071		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545071C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.748G>A	15.37:g.43545071C>T	ENSP00000220420:p.Ala250Thr					TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	p.A250T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	755	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	250					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.748G>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	1.823	-0.471774	0.04445	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88741	-2.42;-2.42	4.64	-2.06	0.07298	.	0.859290	0.10232	N	0.699506	T	0.56761	0.2007	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.58781	-0.7576	10	0.07990	T	0.79	-0.7873	5.64	0.17559	0.0:0.4178:0.1428:0.4394	.	168;250	O43548-2;O43548	.;TGM5_HUMAN	T	250;168;249	ENSP00000220420:A250T;ENSP00000220419:A168T	ENSP00000220420:A250T	A	-	1	0	TGM5	41332363	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.449000	0.06812	-0.270000	0.09285	-0.291000	0.09656	GCC		0.547	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		27	24	0	0	0	1	0	27	24					T	43545071	C	T	43545071	3	4	478	1	0	0	0	0	1	0	0	0	15830	768	27	1	1446	1	TGM5	15	43545071	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		43545071	58986321	14	38989											
C15orf44	81556	broad.mit.edu	37	chr15	65885872	65885872	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attggctgaattttcatcttCattgtcatcagtgatgccag	8	8	5	2			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:65885872C>A	ENST00000395644.4	-	8	1215	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	VWA9_ENST00000567744.1_Nonsense_Mutation_p.E330*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E244*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E258*|VWA9_ENST00000313182.2_Nonsense_Mutation_p.E294*|VWA9_ENST00000420799.2_Nonsense_Mutation_p.E237*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E215*			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	294																	TTTTCATCTTCATTGTCATCA	0.418																																						ENST00000395644.4																			0											c.(880-882)Gaa>Taa		von Willebrand factor A domain containing 9							147	115	126					15																	65885872		2201	4299	6500	SO:0001587	stop_gained	81556							g.chr15:65885872C>A	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 44"	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.880G>T	15.37:g.65885872C>A	ENSP00000379006:p.Glu294*					VWA9_ENST00000313182.2_Nonsense_Mutation_p.E294*|VWA9_ENST00000420799.2_Nonsense_Mutation_p.E237*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E258*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E244*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E215*|VWA9_ENST00000567744.1_Nonsense_Mutation_p.E330*	p.E294*							8	1215	-								B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Nonsense_Mutation	SNP	ENST00000395644.4	37	c.880G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.226639	0.98146	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.65	4.74	0.60224	.	0.090952	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-22.7318	15.019	0.71613	0.0:0.9315:0.0:0.0685	.	.	.	.	X	294;294;215;237;258	.	ENSP00000326379:E294X	E	-	1	0	C15orf44	63672925	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.765000	0.85310	1.530000	0.49136	0.655000	0.94253	GAA		0.418	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		24	40	1	0	3.28513e-13	1	3.40245e-13	24	40					A	65885872	C	A	65885872	4	1	478	1	0	0	0	0	0	1	0	0	1798	835	29	4	696	4	C15orf44	15	65885872	Nonsense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	22340801	65885872	36645520	15	38990											
NPRL3	4350	broad.mit.edu	37	chr16	138697	138697	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acgggtcaacctacacccacCtggcaaacatgcggaggtcc	10	15	1	0			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:138697C>G	ENST00000219431.4	+	0	1193				NPRL3_ENST00000399951.3_Splice_Site_p.R335T|NPRL3_ENST00000405960.3_5'UTR|Z69720.2_ENST00000601483.1_RNA|NPRL3_ENST00000399953.3_Splice_Site_p.R514T	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTACACCCACCTGGCAAACAT	0.597								Base excision repair (BER), DNA glycosylases																														ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.e13+1		nitrogen permease regulator-like 3 (S. cerevisiae)							40	46	44					16																	138697		2129	4252	6381	SO:0001628	intergenic_variant	8131						protein binding	g.chr16:138697C>G		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.138697C>G						NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.R335_splice	p.R514_splice	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			13	1943	-			515					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Splice_Site	SNP	ENST00000219431.4	37	c.1541_splice	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265202	0.80358	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	.	.	.	0.80722	D	1	D	0.54601	0.967	D	0.63597	0.916	T	0.77885	-0.2421	7	.	.	.	-17.7041	18.391	0.90483	0.0:1.0:0.0:0.0	.	515	Q12980	NPRL3_HUMAN	T	514;489;335	.	.	R	-	2	0	NPRL3	78697	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.562000	0.82300	2.591000	0.87537	0.561000	0.74099	AGG		0.597	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			6	8	0	0	0	1	0	6	8					G	138697	C	G	138697	1	3	478	0	1	0	0	0	0	0	0	0	10598	695	24	4		4	NPRL3	16	138697	IGR	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		138697	90216056	16	38991											
SRRM2	23524	broad.mit.edu	37	chr16	2820625	2820625	+	Frame_Shift_Del	DEL	C	C	-													cagcagcagtgagcggggttCccggagaggccagcgtgggg							TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:2820625delC	ENST00000301740.8	+	14	8705	c.8156delC	c.(8155-8157)tccfs	p.S2719fs	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2719	Arg-rich.|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						GAGCGGGGTTCCCGGAGAGGC	0.647																																						ENST00000301740.8																			0				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						c.(8155-8157)tcfs		serine/arginine repetitive matrix 2							15	15	15					16																	2820625		2129	4194	6323	SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2820625delC	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.8156delC	16.37:g.2820625delC	ENSP00000301740:p.Ser2719fs						p.S2719fs	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			14	8705	+			2719			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Del	DEL	ENST00000301740.8	37	c.8156delC	CCDS32373.1																																																																																				0.647	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			2	4						2	4	---	---	---	---	-	2820625	C	-	2820625	7	5	478	1	0	1	0	1	0	0	0	0	15168	855	30	0	8206	0	SRRM2	16	2820625	Frame_Shift_Del	DEL	C	TCGA-TM-A84T-01A-11D-A36O-08	2681928	2820625	87534128	17	38992											
THUMPD1	55623	broad.mit.edu	37	chr16	20748258	20748258	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtggcttgacttgcaagttCaggtttggctcctccctcat	10	11	2	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:20748258C>G	ENST00000381337.2	-	4	1350	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	336							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTGCAAGTTCAGGTTTGGCT	0.468																																						ENST00000381337.2																			0				NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(1006-1008)Gaa>Caa		THUMP domain containing 1							119	117	118					16																	20748258		2201	4300	6501	SO:0001583	missense	55623							g.chr16:20748258C>G	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.1006G>C	16.37:g.20748258C>G	ENSP00000370741:p.Glu336Gln					THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN			4	1350	-			336					Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	c.1006G>C	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103084	0.76983	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.56941	0.56;0.43;0.56	5.92	5.92	0.95590	.	0.200046	0.41500	D	0.000867	T	0.59487	0.2197	L	0.56769	1.78	0.41680	D	0.989282	D	0.57899	0.981	P	0.49637	0.617	T	0.58607	-0.7607	10	0.41790	T	0.15	.	17.0277	0.86452	0.0:1.0:0.0:0.0	.	336	Q9NXG2	THUM1_HUMAN	Q	336;422;336	ENSP00000370741:E336Q;ENSP00000392282:E422Q;ENSP00000379392:E336Q	ENSP00000370741:E336Q	E	-	1	0	THUMPD1	20655759	0.923000	0.31300	0.996000	0.52242	0.508000	0.34012	0.612000	0.24283	2.812000	0.96745	0.561000	0.74099	GAA		0.468	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736		27	47	0	0	0	1	0	27	47					G	20748258	C	G	20748258	3	3	478	1	0	0	0	0	1	0	0	0	15879	835	29	4	59	4	THUMPD1	16	20748258	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	17927633	20748258	69606495	18	38993											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	1	0	0	0	1	0	13	1					A	7577121	G	A	7577121	3	1	478	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		7577121	73618089	19	38994											
KRT27	342574	broad.mit.edu	37	chr17	38933340	38933340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatgagagaactttgccacGaggatctatctcttcaacaa	9	9	3	2			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:38933340G>A	ENST00000301656.3	-	8	1331	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACTTTGCCACGAGGATCTATC	0.383																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1291-1293)Cgt>Tgt		keratin 27							118	121	120					17																	38933340		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933340G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1291C>T	17.37:g.38933340G>A	ENSP00000301656:p.Arg431Cys					KRT27_ENST00000540723.1_5'UTR	p.R431C	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			8	1331	-		Breast(137;0.000812)	431			Tail.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1291C>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376407	0.42105	.	.	ENSG00000171446	ENST00000301656	D	0.83335	-1.71	5.66	4.67	0.58626	.	0.090866	0.49305	D	0.000143	T	0.77961	0.4209	L	0.59436	1.845	0.45962	D	0.998784	B	0.11235	0.004	B	0.08055	0.003	T	0.74321	-0.3703	10	0.52906	T	0.07	.	8.642	0.33983	0.0843:0.1564:0.7593:0.0	.	431	Q7Z3Y8	K1C27_HUMAN	C	431	ENSP00000301656:R431C	ENSP00000301656:R431C	R	-	1	0	KRT27	36186866	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.510000	0.45468	2.815000	0.96918	0.650000	0.86243	CGT		0.383	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		26	26	0	0	0	1	0	26	26					A	38933340	G	A	38933340	3	1	478	1	0	0	0	0	1	0	0	0	8464	1058	37	1	92	1	KRT27	17	38933340	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	31356219	38933340	42261870	20	38995											
ZNF667	63934	broad.mit.edu	37	chr19	56953812	56953812	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgatgaagtaggatggatgaGatctgtctgaaagcttttct	12	4	3	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr19:56953812G>C	ENST00000504904.3	-	7	1271	c.552C>G	c.(550-552)atC>atG	p.I184M	ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	184					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATGGATGAGATCTGTCTGA	0.373																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(550-552)atC>atG		zinc finger protein 667							124	127	126					19																	56953812		2202	4300	6502	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953812G>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.552C>G	19.37:g.56953812G>C	ENSP00000439402:p.Ile184Met					ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M|ZNF667_ENST00000591790.1_3'UTR	p.I184M			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1271	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	184					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.552C>G	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	0.828	-0.746396	0.03065	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.39787	1.06;1.06;1.06	4.98	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.153645	0.30630	N	0.009202	T	0.20210	0.0486	N	0.10972	0.075	0.09310	N	1	P;P	0.45283	0.855;0.697	B;B	0.39027	0.288;0.157	T	0.06862	-1.0803	10	0.40728	T	0.16	-5.1082	6.863	0.24077	0.0948:0.1761:0.7291:0.0	.	312;184	E7EPS0;Q5HYK9	.;ZN667_HUMAN	M	312;184;184;58	ENSP00000344699:I312M;ENSP00000439402:I184M;ENSP00000292069:I184M	ENSP00000292069:I184M	I	-	3	3	ZNF667	61645624	0.000000	0.05858	0.019000	0.16419	0.012000	0.07955	-0.004000	0.12878	0.662000	0.31006	-0.282000	0.10007	ATC		0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		3	38	0	0	0	1	0	3	38					C	56953812	G	C	56953812	3	2	478	1	0	0	0	0	1	0	0	0	18071	932	33	4	1284	4	ZNF667	19	56953812	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		56953812	2175171	21	38996											
ZNF335	63925	broad.mit.edu	37	chr20	44577646	44577646	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccctggtgctgcagctgTtgaatgtgttcgggcactgt	14	9	0	1	rs565844838		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:44577646T>C	ENST00000322927.2	-	28	4075	c.3975A>G	c.(3973-3975)caA>caG	p.Q1325Q	ZNF335_ENST00000426788.1_Silent_p.Q1170Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1325	Gln-rich.				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)				GCTGCAGCTGTTGAATGTGTT	0.602													T|||	1	0.000199681	0.0	0.0	5008	,	,		22029	0.0		0.0	False		,,,				2504	0.001					ENST00000322927.2																			0				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						c.(3973-3975)caA>caG		zinc finger protein 335							93	81	85					20																	44577646		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44577646T>C	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.3975A>G	20.37:g.44577646T>C						ZNF335_ENST00000426788.1_Silent_p.Q1170Q	p.Q1325Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			28	4075	-		Myeloproliferative disorder(115;0.0122)	1325			Gln-rich.		B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.3975A>G	CCDS13389.1																																																																																				0.602	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		10	12	0	0	0	1	0	10	12					C	44577646	T	C	44577646	2	2	478	1	0	0	0	0	0	0	0	1	17849	1722	60	3		3	ZNF335	20	44577646	Silent	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		44577646	18447874	22	38997											
TIAM1	7074	broad.mit.edu	37	chr21	32638783	32638783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtctgcagatttggagCgtttcttcttaaagctcgcc	10	9	3	2			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr21:32638783C>T	ENST00000286827.3	-	5	977	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	169					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						AGATTTGGAGCGTTTCTTCTT	0.502																																						ENST00000286827.3																			0				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						c.(505-507)cGc>cAc		T-cell lymphoma invasion and metastasis 1							102	100	101					21																	32638783		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638783C>T		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.506G>A	21.37:g.32638783C>T	ENSP00000286827:p.Arg169His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H|TIAM1_ENST00000469412.1_Intron	p.R169H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	977	-			169					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.506G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022765	0.93462	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	T;T	0.61859	0.23;0.07	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.75476	-0.3304	10	0.87932	D	0	.	19.5961	0.95538	0.0:1.0:0.0:0.0	.	169;169;169	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	H	169;10;169;169	ENSP00000286827:R169H;ENSP00000441570:R169H	ENSP00000286827:R169H	R	-	2	0	TIAM1	31560654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.019000	0.76412	2.621000	0.88768	0.591000	0.81541	CGC		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		32	54	0	0	0	1	0	32	54					T	32638783	C	T	32638783	3	4	478	1	0	0	0	0	1	0	0	0	15887	768	27	1	4369	1	TIAM1	21	32638783	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		32638783	15491112	23	38998											
HCCS	3052	broad.mit.edu	37	chrX	11139866	11139866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctggacgtccgtcctgCcttagattcactttcggcag	9	14	1	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:11139866C>T	ENST00000321143.4	+	7	945	c.743C>T	c.(742-744)gCc>gTc	p.A248V	ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.A248V|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	248					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						GTCCGTCCTGCCTTAGATTCA	0.428																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(742-744)gCc>gTc		holocytochrome c synthase							137	108	118					X																	11139866		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139866C>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.743C>T	X.37:g.11139866C>T	ENSP00000326579:p.Ala248Val					ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V|HCCS_ENST00000380762.4_Missense_Mutation_p.A248V	p.A248V	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			7	945	+			248					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.743C>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542434	0.85917	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.84589	-1.87;-1.87;-1.87	5.84	4.97	0.65823	.	0.047897	0.85682	D	0.000000	D	0.94551	0.8245	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95442	0.8526	10	0.87932	D	0	-18.2816	13.0008	0.58673	0.1622:0.8378:0.0:0.0	.	248	P53701	CCHL_HUMAN	V	248	ENSP00000326579:A248V;ENSP00000370140:A248V;ENSP00000370139:A248V	ENSP00000326579:A248V	A	+	2	0	HCCS	11049787	1.000000	0.71417	0.008000	0.14137	0.923000	0.55619	7.306000	0.78905	1.199000	0.43173	0.600000	0.82982	GCC		0.428	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			12	15	0	0	0	1	0	12	15					T	11139866	C	T	11139866	3	4	478	1	0	0	0	0	1	0	0	0	6990	739	26	2	765	2	HCCS	23	11139866	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		11139866	144130694	24	38999											
TLR7	51284	broad.mit.edu	37	chrX	12905884	12905884	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccttccagttgcgatatctgGatctcagctcaaataaaatc	6	11	3	0			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:12905884G>C	ENST00000380659.3	+	3	2396	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	753					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|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 chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GCGATATCTGGATCTCAGCTC	0.388																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2257-2259)Gat>Cat		toll-like receptor 7	Imiquimod(DB00724)						68	66	67					X																	12905884		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905884G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2257G>C	X.37:g.12905884G>C	ENSP00000370034:p.Asp753His						p.D753H	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2396	+			753					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2257G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697499	0.48307	.	.	ENSG00000196664	ENST00000380659	T	0.81247	-1.47	5.66	5.66	0.87406	.	0.116787	0.56097	D	0.000037	D	0.87696	0.6242	L	0.55103	1.725	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.88597	0.3147	10	0.87932	D	0	.	18.782	0.91937	0.0:0.0:1.0:0.0	.	753	Q9NYK1	TLR7_HUMAN	H	753	ENSP00000370034:D753H	ENSP00000370034:D753H	D	+	1	0	TLR7	12815805	1.000000	0.71417	0.985000	0.45067	0.471000	0.32888	9.808000	0.99193	2.381000	0.81170	0.529000	0.55759	GAT		0.388	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		41	6	0	0	0	1	0	41	6					C	12905884	G	C	12905884	3	2	478	1	0	0	0	0	1	0	0	0	15953	1174	41	4	2263	4	TLR7	23	12905884	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	1766018	12905884	142364676	25	39000											
ATRX	546	broad.mit.edu	37	chrX	76937603	76937603	+	Frame_Shift_Del	DEL	T	T	-													tttagaagttttatctcttaTttttttacttttcttttctc							TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:76937603delT	ENST00000373344.5	-	9	3359	c.3145delA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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						TTATCTCTTATTTTTTTACTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(3145-3147)tafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						62	70	67					X																	76937603		2199	4270	6469	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937603delT	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.3145delA	X.37:g.76937603delT	ENSP00000362441:p.Ile1049fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	p.I1049fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3359	-			1049					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3145delA	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		68	25						68	25	---	---	---	---	-	76937603	T	-	76937603	7	5	478	1	0	1	0	1	0	0	0	0	1208	1493	52	0	4441	0	ATRX	23	76937603	Frame_Shift_Del	DEL	T	TCGA-TM-A84T-01A-11D-A36O-08	64031719	76937603	78332957	26	39001											
RER1	11079	broad.mit.edu	37	chr1	2334543	2334543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaggcaaggaggatgccGgcaaggccttcgccagctag	15	11	0	1	rs201770326		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:2334543G>A	ENST00000605895.1	+	7	704	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	RER1_ENST00000488353.1_Missense_Mutation_p.G191S|RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	191				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGAGGATGCCGGCAAGGCCTT	0.498																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(571-573)Ggc>Agc		retention in endoplasmic reticulum sorting receptor 1							95	95	95					1																	2334543		2077	4198	6275	SO:0001583	missense	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2334543G>A	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.571G>A	1.37:g.2334543G>A	ENSP00000475168:p.Gly191Ser					RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.G191S	p.G191S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	7	704	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	191	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Missense_Mutation	SNP	ENST00000605895.1	37	c.571G>A	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040667	0.55003	.	.	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.52	4.62	0.57501	.	0.230519	0.44483	N	0.000446	T	0.48624	0.1510	L	0.29908	0.895	0.80722	D	1	B	0.30511	0.282	B	0.37267	0.245	T	0.39583	-0.9607	9	0.23302	T	0.38	.	13.7035	0.62624	0.0739:0.0:0.9261:0.0	.	191	O15258	RER1_HUMAN	S	191	.	ENSP00000302088:G191S	G	+	1	0	RER1	2324403	1.000000	0.71417	0.997000	0.53966	0.012000	0.07955	6.934000	0.75880	1.354000	0.45846	-0.213000	0.12676	GGC		0.498	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			4	156	0	0	0	1	0	4	156					A	2334543	G	A	2334543	3	1	479	1	0	0	0	0	1	0	0	0	13230	1116	39	1	593	1	RER1	1	2334543	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		2334543	246916078	1	39002											
CELA3A	10136	broad.mit.edu	37	chr1	22336270	22336270	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacggtgtgaccagctttGtttctgcctttggctgcaac	10	12	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:22336270G>C	ENST00000290122.3	+	7	734	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						GACCAGCTTTGTTTCTGCCTT	0.612																																						ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(715-717)Gtt>Ctt		chymotrypsin-like elastase family, member 3A							82	71	74					1																	22336270		2197	4300	6497	SO:0001583	missense	10136							g.chr1:22336270G>C	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.715G>C	1.37:g.22336270G>C	ENSP00000290122:p.Val239Leu						p.V239L	NM_005747.4	NP_005738.4					7	734	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.715G>C	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228501	0.58777	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.16897	2.31;2.31	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.28267	0.0698	L	0.45137	1.4	0.80722	D	1	D	0.54772	0.968	P	0.59761	0.863	T	0.01762	-1.1279	9	0.48119	T	0.1	-4.061	12.8948	0.58093	0.0:0.0:1.0:0.0	.	239	P09093	CEL3A_HUMAN	L	239;47	ENSP00000290122:V239L;ENSP00000383130:V47L	ENSP00000290122:V239L	V	+	1	0	CELA3A	22208857	1.000000	0.71417	0.152000	0.22495	0.512000	0.34134	9.349000	0.97066	1.856000	0.53863	0.455000	0.32223	GTT		0.612	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		3	86	0	0	0	1	0	3	86					C	22336270	G	C	22336270	3	2	479	1	0	0	0	0	1	0	0	0	3213	1377	48	4	741	4	CELA3A	1	22336270	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	20001727	22336270	226914351	2	39003											
ZZZ3	26009	broad.mit.edu	37	chr1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggttctccggaggctgGcatactctcaagacttgtgt	11	10	3	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					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)	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443																																						ENST00000370801.3																			1	Substitution - Missense(1)	p.P347S(1)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1039-1041)Cca>Tca		zinc finger, ZZ-type containing 3							181	165	170					1																	78098001		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098001G>A	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.1039C>T	1.37:g.78098001G>A	ENSP00000359837:p.Pro347Ser					ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	p.P347S	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1514	-			347					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1039C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	1.501	-0.552143	0.03996	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	5.4	0.78164	.	0.113130	0.64402	D	0.000009	T	0.22551	0.0544	N	0.21448	0.665	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.002	B;B;B	0.10450	0.003;0.002;0.005	T	0.13469	-1.0508	8	.	.	.	.	7.3643	0.26764	0.2017:0.0:0.7983:0.0	.	347;347;347	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	347	.	.	P	-	1	0	ZZZ3	77870589	1.000000	0.71417	0.378000	0.26068	0.018000	0.09664	4.196000	0.58407	2.714000	0.92807	0.650000	0.86243	CCA		0.443	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		4	247	0	0	0	1	0	4	247					A	78098001	G	A	78098001	3	1	479	1	0	0	0	0	1	0	0	0	18253	1203	42	2	1716	2	ZZZ3	1	78098001	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	55761731	78098001	171152620	3	39004											
SLC16A1	6566	broad.mit.edu	37	chr1	113460447	113460447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccgattggtcgcatgAgggctccagcaacacagcag	14	12	0	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:113460447A>G	ENST00000538576.1	-	4	1412	c.581T>C	c.(580-582)cTc>cCc	p.L194P	SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	194					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TGGTCGCATGAGGGCTCCAGC	0.488																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(580-582)cTc>cCc		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						78	78	78					1																	113460447		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460447A>G	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"Solute carriers"	10922	protein-coding gene	gene with protein product		600682	"solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.581T>C	1.37:g.113460447A>G	ENSP00000441065:p.Leu194Pro					SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P	p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1412	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	194					Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.581T>C	CCDS858.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274259	0.80580	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89631	0.3855	10	0.87932	D	0	.	16.0039	0.80344	1.0:0.0:0.0:0.0	.	194;194	Q49A45;P53985	.;MOT1_HUMAN	P	194	ENSP00000358640:L194P;ENSP00000441065:L194P;ENSP00000416167:L194P;ENSP00000445061:L194P;ENSP00000399104:L194P;ENSP00000397106:L194P	ENSP00000358640:L194P	L	-	2	0	SLC16A1	113261970	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.276000	0.95745	2.317000	0.78254	0.460000	0.39030	CTC		0.488	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		4	168	0	0	0	1	0	4	168					G	113460447	A	G	113460447	3	3	479	1	0	0	0	0	1	0	0	0	14402	304	11	3	929	3	SLC16A1	1	113460447	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	35362446	113460447	135790174	4	39005											
FLG2	388698	broad.mit.edu	37	chr1	152324784	152324784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagatccagcctggccGtgagtgtgtcctcgtgagtg	15	9	0	3	rs557753791		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:152324784G>A	ENST00000388718.5	-	3	5550	c.5478C>T	c.(5476-5478)caC>caT	p.H1826H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1826					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)			CAGCCTGGCCGTGAGTGTGTC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		28677	0.0		0.0	False		,,,				2504	0.001					ENST00000388718.5																			0				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						c.(5476-5478)caC>caT		filaggrin family member 2							302	267	279					1																	152324784		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324784G>A	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.5478C>T	1.37:g.152324784G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1826H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5550	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1826					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5478C>T	CCDS30861.1																																																																																				0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		244	239	0	0	0	1	0	244	239					A	152324784	G	A	152324784	2	1	479	1	0	0	0	0	0	0	0	1	5923	1136	40	1		1	FLG2	1	152324784	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	38864337	152324784	96925837	5	39006											
MSTO1	55154	broad.mit.edu	37	chr1	155582849	155582849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctctttaggtggtgacaGcaggagcaatcatccctttc	9	11	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:155582849G>T	ENST00000245564.2	+	11	1132	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S	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	370					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)					GGTGGTGACAGCAGGAGCAAT	0.517																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(1108-1110)Gca>Tca		misato 1, mitochondrial distribution and morphology regulator							127	124	125					1																	155582849		2203	4300	6503	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582849G>T	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.1108G>T	1.37:g.155582849G>T	ENSP00000245564:p.Ala370Ser					MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	p.A370S	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			11	1132	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		370					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.1108G>T	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	16.28	3.079591	0.55753	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.51817	0.7;0.69	2.84	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.66939	2.045	0.80722	D	1	P;P;D;D;D;D;D	0.89917	0.949;0.881;0.996;1.0;0.996;0.996;0.998	D;P;D;D;P;D;D	0.83275	0.909;0.569;0.94;0.996;0.9;0.959;0.959	T	0.46898	-0.9158	10	0.21014	T	0.42	.	10.1225	0.42630	0.0:0.0:0.7993:0.2007	.	315;370;335;192;370;370;370	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	S	370;335	ENSP00000245564:A370S;ENSP00000357325:A335S	ENSP00000245564:A370S	A	+	1	0	MSTO1	153849473	0.991000	0.36638	0.997000	0.53966	0.691000	0.40173	3.988000	0.56951	1.583000	0.49898	0.313000	0.20887	GCA		0.517	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		6	167	1	0	5.68852e-11	1	6.48492e-11	6	167					T	155582849	G	T	155582849	3	4	479	1	0	0	0	0	1	0	0	0	9894	971	34	4	1150	4	MSTO1	1	155582849	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	3258065	155582849	93667772	6	39007											
PRG4	10216	broad.mit.edu	37	chr1	186277784	186277784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaattactactcttaaaaCaactactcttgcacccaaag	2	12	2	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:186277784C>T	ENST00000445192.2	+	7	2978	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	PRG4_ENST00000367484.3_Missense_Mutation_p.T507I|PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I|PRG4_ENST00000367486.3_Missense_Mutation_p.T935I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	978					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						ACTCTTAAAACAACTACTCTT	0.353																																						ENST00000445192.2																			0				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						c.(2932-2934)aCa>aTa		proteoglycan 4							189	207	201					1																	186277784		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277784C>T	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.2933C>T	1.37:g.186277784C>T	ENSP00000399679:p.Thr978Ile					PRG4_ENST00000367486.3_Missense_Mutation_p.T935I|PRG4_ENST00000367484.3_Missense_Mutation_p.T507I|PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I	p.T978I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2978	+			978					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2933C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	5.029	0.190993	0.09547	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05855	3.38;3.53;3.52;3.41;3.49	3.54	1.51	0.23008	.	1.692010	0.03733	U	0.253796	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29552	0.248;0.103;0.139;0.218	B;B;B;B	0.22386	0.025;0.025;0.017;0.039	T	0.38672	-0.9650	10	0.36615	T	0.2	-0.6077	5.2607	0.15571	0.2252:0.6653:0.0:0.1095	.	844;885;978;937	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	I	935;507;844;937;885;978	ENSP00000356456:T935I;ENSP00000356454:T507I;ENSP00000356453:T937I;ENSP00000356455:T885I;ENSP00000399679:T978I	ENSP00000356452:T844I	T	+	2	0	PRG4	184544407	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	0.252000	0.18278	0.096000	0.17463	0.485000	0.47835	ACA		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		122	179	0	0	0	1	0	122	179					T	186277784	C	T	186277784	3	4	479	1	0	0	0	0	1	0	0	0	12481	478	17	2	2955	2	PRG4	1	186277784	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	30694935	186277784	62972837	7	39008											
RGPD3	653489	broad.mit.edu	37	chr2	107040253	107040253	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtatacgaacgtgcttAttatcataattctgtaaaat	5	6	3	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:107040253A>G	ENST00000409886.3	-	20	4257	c.4170T>C	c.(4168-4170)aaT>aaC	p.N1390N	RGPD3_ENST00000304514.7_Silent_p.N1390N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1390	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACGTGCTTATTATCATAAT	0.353																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(4168-4170)aaT>aaC		RANBP2-like and GRIP domain containing 3							124	95	104					2																	107040253		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107040253A>G		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.4170T>C	2.37:g.107040253A>G						RGPD3_ENST00000304514.7_Silent_p.N1390N	p.N1390N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	4257	-			1390			RanBD1 2.		B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.4170T>C	CCDS46379.1																																																																																				0.353	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	891	0	0	0	1	0	10	891					G	107040253	A	G	107040253	2	3	479	1	0	0	0	0	0	0	0	1	13287	446	16	3		3	RGPD3	2	107040253	Silent	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		107040253	136159120	8	39009											
DFNB59	494513	broad.mit.edu	37	chr2	179319178	179319178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctggatcagattccattGcagtgaaagcttcatttggt	10	7	2	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:179319178G>A	ENST00000409117.3	+	3	687	c.331G>A	c.(331-333)Gca>Aca	p.A111T	DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T|PRKRA_ENST00000470200.1_5'Flank	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	111					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGATTCCATTGCAGTGAAAGC	0.348																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(331-333)Gca>Aca		deafness, autosomal recessive 59							83	82	83					2																	179319178		1898	4118	6016	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179319178G>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.331G>A	2.37:g.179319178G>A	ENSP00000386647:p.Ala111Thr					DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T	p.A111T	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		3	687	+			111					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.331G>A	CCDS42787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905528|4.905528	0.92107|0.92107	.|.	.|.	ENSG00000204311|ENSG00000204311	ENST00000409117;ENST00000375129|ENST00000442710	T;T|.	0.59083|.	0.29;0.29|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	1.848780|.	0.06180|.	U|.	0.679340|.	T|T	0.69006|0.69006	0.3063|0.3063	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.65573|.	0.936|.	T|T	0.62737|0.62737	-0.6791|-0.6791	10|5	0.17369|.	T|.	0.5|.	-9.9543|-9.9543	20.1421|20.1421	0.98061|0.98061	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111|.	Q0ZLH3|.	PJVK_HUMAN|.	T|Y	111|58	ENSP00000386647:A111T;ENSP00000364271:A111T|.	ENSP00000364271:A111T|.	A|C	+|+	1|2	0|0	DFNB59|DFNB59	179027424|179027424	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	9.420000|9.420000	0.97426|0.97426	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.348	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			6	157	0	0	0	1	0	6	157					A	179319178	G	A	179319178	3	1	479	1	0	0	0	0	1	0	0	0	4456	1319	46	2	337	2	DFNB59	2	179319178	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	72278925	179319178	63880195	9	39010											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			74	99	0	0	0	1	0	74	99					T	209113112	C	T	209113112	3	4	479	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	29793934	209113112	34086261	10	39011											
PTH1R	5745	broad.mit.edu	37	chr3	46944925	46944925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctgcccctcagccccCgcctactgcccactgccacc	7	24	1	0	rs200304786		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:46944925C>T	ENST00000313049.5	+	14	1764	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	PTH1R_ENST00000449590.1_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	521					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|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)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCTCAGCCCCCGCCTACTGCC	0.682																																						ENST00000313049.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(1561-1563)Cgc>Tgc		parathyroid hormone 1 receptor							48	43	45					3																	46944925		2202	4299	6501	SO:0001583	missense	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46944925C>T		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1561C>T	3.37:g.46944925C>T	ENSP00000321999:p.Arg521Cys					PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000449590.1_Missense_Mutation_p.R521C	p.R521C			Q03431	PTH1R_HUMAN			14	1764	+			521					Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.1561C>T	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895181	0.72639	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.1	4.23	0.50019	.	.	.	.	.	T	0.77718	0.4172	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.78617	-0.2134	9	0.66056	D	0.02	.	8.7174	0.34419	0.1594:0.7596:0.0:0.081	.	521	Q03431	PTH1R_HUMAN	C	521;521;521;521;521;826;110	ENSP00000402723:R521C;ENSP00000411424:R521C;ENSP00000400977:R521C;ENSP00000413774:R521C;ENSP00000321999:R521C;ENSP00000396176:R110C	ENSP00000321999:R521C	R	+	1	0	PTH1R	46919929	0.995000	0.38212	1.000000	0.80357	0.905000	0.53344	2.623000	0.46435	1.525000	0.49052	0.563000	0.77884	CGC		0.682	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		50	60	0	0	0	1	0	50	60					T	46944925	C	T	46944925	3	4	479	1	0	0	0	0	1	0	0	0	12758	652	23	1	1615	1	PTH1R	3	46944925	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		46944925	151077505	11	39012											
MORC1	27136	broad.mit.edu	37	chr3	108773717	108773717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattaacaattccaaccacGcctgcgccaagtctgagaaa	6	12	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:108773717G>A	ENST00000483760.1	-	14	1231	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	MORC1_ENST00000232603.5_Silent_p.G396G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCAACCACGCCTGCGCCAA	0.308																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1186-1188)ggC>ggT		MORC family CW-type zinc finger 1							88	84	85					3																	108773717		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773717G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1188C>T	3.37:g.108773717G>A						MORC1_ENST00000483760.1_Silent_p.G396G	p.G396G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1270	-			396						Silent	SNP	ENST00000483760.1	37	c.1188C>T																																																																																					0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			63	102	0	0	0	1	0	63	102					A	108773717	G	A	108773717	2	1	479	1	0	0	0	0	0	0	0	1	9701	1074	38	1		1	MORC1	3	108773717	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	61828792	108773717	89248713	12	39013											
BANK1	55024	broad.mit.edu	37	chr4	102791660	102791661	+	Splice_Site	DEL	AG	AG	-													acccttgtttgtttttcataAgagtttcctgctggttcagt							TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:102791660_102791661delAG	ENST00000322953.4	+	5	1037		c.e5-1		BANK1_ENST00000428908.1_Splice_Site|BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000504592.1_Splice_Site|BANK1_ENST00000508653.1_Splice_Site	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1						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)		GTTTTTCATAAGAGTTTCCTGC	0.342																																						ENST00000504592.1																			0				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						c.e9-1		B-cell scaffold protein with ankyrin repeats 1																																				SO:0001630	splice_region_variant	55024				B cell activation			g.chr4:102791660_102791661delAG	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.764-1AG>-	4.37:g.102791662_102791663delAG						BANK1_ENST00000322953.4_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000428908.1_Splice_Site				Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1136	+		Hepatocellular(203;0.217)						A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Splice_Site	DEL	ENST00000322953.4	37		CCDS34038.1																																																																																				0.342	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	Intron	87	107						87	107	---	---	---	---	-	102791661	AG	-	102791660	8	5	479	1	0	1	0	1	0	0	1	0	1309	86	3	0	780	0	BANK1	4	102791660	Splice_Site	DEL	AG	TCGA-TQ-A7RF-01A-11D-A33T-08		102791660	88362616	13	39014											
CENPE	1062	broad.mit.edu	37	chr4	104062907	104062907	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatccccccataaaaatacCttttcttgtaatttagcatt	2	11	1	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:104062907C>A	ENST00000265148.3	-	35	5552	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					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)		ATAAAAATACCTTTTCTTGTA	0.313																																						ENST00000265148.3																			0				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						c.e35+1		centromere protein E, 312kDa							67	64	65					4																	104062907		2202	4298	6500	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062907C>A	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.5463+1G>T	4.37:g.104062907C>A						CENPE_ENST00000380026.3_Splice_Site_p.K1796_splice	p.K1821_splice	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	35	5552	-			1821					A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.5463_splice	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965315	0.53507	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.01	4.01	0.46588	.	.	.	.	.	D	0.82323	0.5012	M	0.78801	2.425	0.36532	D	0.870793	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.94	D	0.85866	0.1413	8	.	.	.	.	11.5291	0.50597	0.0:1.0:0.0:0.0	.	1796;1821	Q02224-3;Q02224	.;CENPE_HUMAN	N	1821;1821;1796	ENSP00000265148:K1821N;ENSP00000369365:K1796N	.	K	-	3	2	CENPE	104282356	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.531000	0.53546	2.069000	0.61940	0.643000	0.83706	AAG		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	7	103	1	0	0.0293803	1	0.0315977	7	103					A	104062907	C	A	104062907	5	1	479	1	0	0	0	0	0	0	1	0	3230	695	24	4	2702	4	CENPE	4	104062907	Splice_Site	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	1271247	104062907	87091369	14	39015											
ANK2	287	broad.mit.edu	37	chr4	114208764	114208764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccattctttctgtagagtGgactcacatccttacacctt	5	12	3	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:114208764G>A	ENST00000357077.4	+	19	2136	c.2083G>A	c.(2083-2085)Gga>Aga	p.G695R	ANK2_ENST00000394537.3_Missense_Mutation_p.G695R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R|ANK2_ENST00000506722.1_Missense_Mutation_p.G674R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	695					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)		TCTGTAGAGTGGACTCACATC	0.348																																						ENST00000357077.4																			0				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						c.(2083-2085)Gga>Aga		ankyrin 2, neuronal							114	98	104					4																	114208764		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114208764G>A	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.2083G>A	4.37:g.114208764G>A	ENSP00000349588:p.Gly695Arg					ANK2_ENST00000394537.3_Missense_Mutation_p.G695R|ANK2_ENST00000506722.1_Missense_Mutation_p.G674R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R	p.G695R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	19	2136	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	695					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2083G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734500	0.69189	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000105	T	0.59542	0.2201	M	0.87180	2.865	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;1.0;1.0;1.0	T	0.66122	-0.6002	10	0.72032	D	0.01	.	19.3884	0.94566	0.0:0.0:1.0:0.0	.	695;695;695;674;674	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	674;641;674;710;695;695;695;674	ENSP00000423799:G674R;ENSP00000421011:G641R;ENSP00000421067:G674R;ENSP00000424722:G710R;ENSP00000378044:G695R;ENSP00000349588:G695R;ENSP00000264366:G695R	ENSP00000264366:G695R	G	+	1	0	ANK2	114428213	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	9.819000	0.99357	2.550000	0.86006	0.650000	0.86243	GGA		0.348	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		10	95	0	0	0	1	0	10	95					A	114208764	G	A	114208764	3	1	479	1	0	0	0	0	1	0	0	0	621	1349	47	2	2182	2	ANK2	4	114208764	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	10145857	114208764	76945512	15	39016											
SLC10A7	84068	broad.mit.edu	37	chr4	147431123	147431123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaagaaaaagccataTtgttgctgggaagaatgcaa	11	5	0	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:147431123T>C	ENST00000507030.1	-	3	261	c.262A>G	c.(262-264)Ata>Gta	p.I88V	SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000432059.2_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	88					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAGCCATATTGTTGCTGGG	0.368																																						ENST00000432059.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.(262-264)Ata>Gta		solute carrier family 10, member 7							88	89	89					4																	147431123		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147431123T>C	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.262A>G	4.37:g.147431123T>C	ENSP00000421275:p.Ile88Val					SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V	p.I88V			Q0GE19	NTCP7_HUMAN			3	508	-	all_hematologic(180;0.151)		88					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.262A>G	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	T	2.562	-0.301706	0.05495	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	3.01	0.34805	.	0.189910	0.56097	N	0.000034	T	0.21468	0.0517	N	0.02379	-0.575	0.80722	D	1	B;B;B;B	0.11235	0.001;0.0;0.0;0.004	B;B;B;B	0.11329	0.006;0.003;0.002;0.004	T	0.11084	-1.0602	9	0.06625	T	0.88	-13.2585	9.0146	0.36161	0.0:0.1467:0.0:0.8533	.	88;88;88;88	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	V	88	.	ENSP00000334594:I88V	I	-	1	0	SLC10A7	147650573	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	1.539000	0.36104	0.449000	0.26747	0.533000	0.62120	ATA		0.368	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		86	71	0	0	0	1	0	86	71					C	147431123	T	C	147431123	3	2	479	1	0	0	0	0	1	0	0	0	14379	1493	52	3	845	3	SLC10A7	4	147431123	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	33222359	147431123	43723153	16	39017											
PCDHB6	56130	broad.mit.edu	37	chr5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcatcaacGcccaggtcacctactcgctg	9	15	3	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	482	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)			AGGCATCAACGCCCAGGTCAC	0.642																																						ENST00000231136.1																			0				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						c.(1444-1446)Gcc>Acc									104	113	110					5																	140531282		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531282G>A	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.1444G>A	5.37:g.140531282G>A	ENSP00000231136:p.Ala482Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	p.A482T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1444	+			482			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1444G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871566	0.91587	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.52295	0.67;0.67	4.27	4.27	0.50696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73666	0.3616	M	0.90814	3.15	0.42575	D	0.993193	D	0.76494	0.999	D	0.68353	0.957	T	0.82086	-0.0631	9	0.87932	D	0	.	17.1391	0.86748	0.0:0.0:1.0:0.0	.	482	Q9Y5E3	PCDB6_HUMAN	T	346;482;267	ENSP00000438466:A346T;ENSP00000231136:A482T	ENSP00000231136:A482T	A	+	1	0	PCDHB6	140511466	0.979000	0.34478	1.000000	0.80357	0.944000	0.59088	5.595000	0.67563	2.095000	0.63458	0.556000	0.70494	GCC		0.642	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		184	225	0	0	0	1	0	184	225					A	140531282	G	A	140531282	3	1	479	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1446	1	PCDHB6	5	140531282	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		140531282	40383978	17	39018											
MDC1	9656	broad.mit.edu	37	chr6	30668317	30668317	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcagcactccagtcagCaggaactcaggcgagaggag	13	11	3	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:30668317C>A	ENST00000376406.3	-	15	6842	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.L1801L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2065	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|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						CTCCAGTCAGCAGGAACTCAG	0.572								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(6193-6195)ctG>ctT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							133	126	128					6																	30668317		1511	2709	4220	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30668317C>A	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.6195G>T	6.37:g.30668317C>A						MDC1_ENST00000376405.2_Silent_p.L1801L	p.L2065L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			15	6842	-			2065			BRCT 2.|Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.6195G>T	CCDS34384.1																																																																																				0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		87	170	1	0	2.38877e-28	1	2.89702e-28	87	170					A	30668317	C	A	30668317	2	1	479	1	0	0	0	0	0	0	0	1	9403	697	25	4		4	MDC1	6	30668317	Silent	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		30668317	140446750	18	39019											
TFAP2D	83741	broad.mit.edu	37	chr6	50682829	50682829	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccccctcttccttccagAtacgtcacgacggatcaaac	5	16	3	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:50682829A>G	ENST00000008391.3	+	2	268	c.40A>G	c.(40-42)Ata>Gta	p.I14V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTCCTTCCAGATACGTCACGA	0.527																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.e2-1		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							94	80	85					6																	50682829		2203	4300	6503	SO:0001630	splice_region_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50682829A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.40-1A>G	6.37:g.50682829A>G							p.I14_splice	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	268	+	Lung NSC(77;0.0334)		14						Splice_Site	SNP	ENST00000008391.3	37	c.39_splice	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651415	0.47362	.	.	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	N	0.08118	0	0.80722	D	1	B	0.22800	0.075	B	0.20384	0.029	D	0.84795	0.0781	9	.	.	.	-1.9143	15.9173	0.79531	1.0:0.0:0.0:0.0	.	14	Q7Z6R9	AP2D_HUMAN	V	14	ENSP00000008391:I14V	.	I	+	1	0	TFAP2D	50790788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.261000	0.95576	2.161000	0.67846	0.533000	0.62120	ATA		0.527	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	Missense_Mutation	6	172	0	0	0	1	0	6	172					G	50682829	A	G	50682829	5	3	479	1	0	0	0	0	0	0	1	0	15787	347	12	3	46	3	TFAP2D	6	50682829	Splice_Site	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	20014512	50682829	120432238	19	39020											
GRM1	2911	broad.mit.edu	37	chr6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-													agggcttgccccctcctctcCagcagcagcagcaaccccct							TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.66	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	146						7	146	---	---	---	---	-	146755401	CAG	-	146755399	7	5	479	1	0	1	0	1	0	0	0	0	6796	595	21	0	3147	0	GRM1	6	146755399	In_Frame_Del	DEL	CAG	TCGA-TQ-A7RF-01A-11D-A33T-08	96072570	146755399	24359668	20	39021											
PHF10	55274	broad.mit.edu	37	chr6	170115929	170115930	+	Frame_Shift_Del	DEL	TC	TC	-													cactttactggcttcaacttTctgagtattctgttgttgca							TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:170115929_170115930delTC	ENST00000339209.4	-	6	690_691	c.567_568delGA	c.(565-570)cagaaafs	p.K190fs	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Frame_Shift_Del_p.K188fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	190	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GCTTCAACTTTCTGAGTATTCT	0.351																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(565-570)caaafs		PHD finger protein 10																																				SO:0001589	frameshift_variant	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170115929_170115930delTC	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.567_568delGA	6.37:g.170115929_170115930delTC	ENSP00000341805:p.Lys190fs					PHF10_ENST00000366780.4_Frame_Shift_Del_p.QK187fs	p.QK189fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	6	690_691	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	189			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Frame_Shift_Del	DEL	ENST00000339209.4	37	c.567_568delGA	CCDS5308.2																																																																																				0.351	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		66	22						66	22	---	---	---	---	-	170115930	TC	-	170115929	7	5	479	1	0	1	0	1	0	0	0	0	11821	1792	62	0	956	0	PHF10	6	170115929	Frame_Shift_Del	DEL	TC	TCGA-TQ-A7RF-01A-11D-A33T-08	23360530	170115929	999138	21	39022											
PLEKHA8	84725	broad.mit.edu	37	chr7	30085837	30085837	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgctcccagttcattctgtaGataatacacgcatggacctg	8	11	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr7:30085837G>C	ENST00000449726.1	+	3	519	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						TCATTCTGTAGATAATACACG	0.517																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(169-171)Gat>Cat		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							101	98	99					7																	30085837		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30085837G>C	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.169G>C	7.37:g.30085837G>C	ENSP00000397947:p.Asp57His					PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR	p.D57H	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			3	519	+			57			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.169G>C	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682881	0.88542	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.93197	3.39	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	0.92382	0.5914	10	0.87932	D	0	-12.2694	17.7947	0.88566	0.0:0.0:1.0:0.0	.	57;57;57	Q96JA3-2;Q96JA3-3;B4DH00	.;.;.	H	57;57;57;57;83	ENSP00000258679:D57H;ENSP00000397947:D57H;ENSP00000379556:D57H;ENSP00000379558:D57H;ENSP00000407802:D83H	ENSP00000258679:D57H	D	+	1	0	PLEKHA8	30052362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.971000	0.88012	2.536000	0.85505	0.655000	0.94253	GAT		0.517	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		108	132	0	0	0	1	0	108	132					C	30085837	G	C	30085837	3	2	479	1	0	0	0	0	1	0	0	0	12062	942	33	4	179	4	PLEKHA8	7	30085837	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		30085837	129052826	22	39023											
KIAA1429	25962	broad.mit.edu	37	chr8	95531654	95531654	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcacttgttactggaAttgacagaagcaaggtaacc	12	7	0	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:95531654A>C	ENST00000297591.5	-	9	2147	c.2072T>G	c.(2071-2073)aTt>aGt	p.I691S	KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S|KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	691					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)			TGTTACTGGAATTGACAGAAG	0.408																																						ENST00000297591.5																			0				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						c.(2071-2073)aTt>aGt		KIAA1429							77	77	77					8																	95531654		2195	4278	6473	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531654A>C	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.2072T>G	8.37:g.95531654A>C	ENSP00000297591:p.Ile691Ser					KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S	p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2147	-	Breast(36;3.29e-05)		691					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.2072T>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	9.354	1.066209	0.20067	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.69040	-0.37;-0.37;-0.37	5.4	5.4	0.78164	.	0.222920	0.48286	D	0.000190	T	0.44603	0.1301	N	0.08118	0	0.33969	D	0.646574	B;B	0.19200	0.034;0.034	B;B	0.22601	0.04;0.04	T	0.52726	-0.8537	10	0.17369	T	0.5	-13.8982	11.4787	0.50312	0.8655:0.0:0.0:0.1345	.	691;691	Q69YN4-4;Q69YN4	.;VIR_HUMAN	S	691	ENSP00000297591:I691S;ENSP00000395600:I691S;ENSP00000398390:I691S	ENSP00000297591:I691S	I	-	2	0	KIAA1429	95600830	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.499000	0.53310	2.176000	0.68965	0.379000	0.24179	ATT		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		84	118	0	0	0	1	0	84	118					C	95531654	A	C	95531654	3	2	479	1	0	0	0	0	1	0	0	0	8231	101	4	5	3484	5	KIAA1429	8	95531654	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		95531654	50832368	23	39024											
CSMD3	114788	broad.mit.edu	37	chr8	113484839	113484839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcctttggaactgcTatagaataaacacaattatg	5	9	0	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484839T>C	ENST00000297405.5	-	32	5620	c.5376A>G	c.(5374-5376)atA>atG	p.I1792M	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M|AC024996.1_ENST00000582664.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1792	CUB 10. {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						TTGGAACTGCTATAGAATAAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(5374-5376)atA>atG		CUB and Sushi multiple domains 3							109	103	105					8																	113484839		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484839T>C	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.5376A>G	8.37:g.113484839T>C	ENSP00000297405:p.Ile1792Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M	p.I1792M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			32	5620	-			1792			CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5376A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505549	0.44558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72725	-0.68;-0.68;0.8;-0.68;1.32	5.07	5.07	0.68467	CUB (5);	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	H	0.94222	3.51	0.21473	N	0.999679	D;P;D	0.59357	0.973;0.916;0.985	P;P;D	0.65443	0.859;0.824;0.935	T	0.79351	-0.1839	10	0.72032	D	0.01	.	2.2185	0.03966	0.1559:0.0846:0.1628:0.5967	.	1688;1792;1752	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	1752;1792;1132;1688;1792	ENSP00000345799:I1752M;ENSP00000297405:I1792M;ENSP00000341558:I1132M;ENSP00000412263:I1688M;ENSP00000343124:I1792M	ENSP00000297405:I1792M	I	-	3	3	CSMD3	113554015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.642000	0.24735	2.125000	0.65367	0.482000	0.46254	ATA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		46	288	0	0	0	1	0	46	288					C	113484839	T	C	113484839	3	2	479	1	0	0	0	0	1	0	0	0	3946	1512	53	3	5907	3	CSMD3	8	113484839	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	17953185	113484839	32879183	24	39025											
CSMD3	114788	broad.mit.edu	37	chr8	113484933	113484933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaacgacttccacagGgcgctaggaaaaaatggcaa	11	9	0	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484933G>A	ENST00000297405.5	-	32	5526	c.5282C>T	c.(5281-5283)cCc>cTc	p.P1761L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L|AC024996.1_ENST00000582664.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1761						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						ACTTCCACAGGGCGCTAGGAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(5281-5283)cCc>cTc		CUB and Sushi multiple domains 3							76	74	75					8																	113484933		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484933G>A	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.5282C>T	8.37:g.113484933G>A	ENSP00000297405:p.Pro1761Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L	p.P1761L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			32	5526	-			1761					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5282C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227681	0.79576	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.30182	1.93;1.93;1.54;1.93;2.03	5.07	5.07	0.68467	CUB (2);	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.41632	1.29	0.58432	D	0.999996	P;D;D	0.76494	0.815;0.999;0.992	P;D;D	0.79784	0.519;0.993;0.936	T	0.17592	-1.0364	10	0.29301	T	0.29	.	18.2401	0.89965	0.0:0.0:1.0:0.0	.	1657;1761;1721	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	1721;1761;1101;1657;1761	ENSP00000345799:P1721L;ENSP00000297405:P1761L;ENSP00000341558:P1101L;ENSP00000412263:P1657L;ENSP00000343124:P1761L	ENSP00000297405:P1761L	P	-	2	0	CSMD3	113554109	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.222000	0.95196	2.630000	0.89119	0.591000	0.81541	CCC		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	184	0	0	0	1	0	28	184					A	113484933	G	A	113484933	3	1	479	1	0	0	0	0	1	0	0	0	3946	1232	43	2	6001	2	CSMD3	8	113484933	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	94	113484933	32879089	25	39026											
TMEM2	23670	broad.mit.edu	37	chr9	74347348	74347348	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagtcctccacttctccttgGatcacaatattccgggtaag	8	12	2	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:74347348G>C	ENST00000377044.4	-	7	2021	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	494					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTCTCCTTGGATCACAATAT	0.438																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1480-1482)atC>atG		transmembrane protein 2							128	115	119					9																	74347348		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74347348G>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1482C>G	9.37:g.74347348G>C	ENSP00000366243:p.Ile494Met					TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	p.I494M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	7	2021	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	494					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1482C>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840941	0.51057	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.92545	-3.06;-1.89	5.54	3.7	0.42460	Pectin lyase fold/virulence factor (1);	0.043499	0.85682	D	0.000000	D	0.95617	0.8575	M	0.89163	3.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.957;0.987	D	0.94313	0.7547	10	0.87932	D	0	.	6.7572	0.23520	0.144:0.0:0.6054:0.2506	.	494;431	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	M	494;431	ENSP00000366243:I494M;ENSP00000366266:I431M	ENSP00000366243:I494M	I	-	3	3	TMEM2	73537168	0.989000	0.36119	0.999000	0.59377	0.973000	0.67179	0.836000	0.27545	0.709000	0.31976	0.650000	0.86243	ATC		0.438	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		78	96	0	0	0	1	0	78	96					C	74347348	G	C	74347348	3	2	479	1	0	0	0	0	1	0	0	0	16118	1164	41	4	2741	4	TMEM2	9	74347348	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		74347348	66866083	26	39027											
RNF20	56254	broad.mit.edu	37	chr9	104307093	104307093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagctgaactctttcCtcgcacaggagaatatgagg	12	9	1	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:104307093C>T	ENST00000389120.3	+	6	763	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	225					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)		GAACTCTTTCCTCGCACAGGA	0.413																																						ENST00000389120.3																			0				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						c.(673-675)Ctc>Ttc		ring finger protein 20, E3 ubiquitin protein ligase							112	113	113					9																	104307093		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104307093C>T	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.673C>T	9.37:g.104307093C>T	ENSP00000373772:p.Leu225Phe						p.L225F	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	6	763	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	225					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.673C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362508	0.61403	.	.	ENSG00000155827	ENST00000389120	T	0.80480	-1.38	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	M	0.78049	2.395	0.58432	D	0.999995	D	0.71674	0.998	D	0.75484	0.986	D	0.88716	0.3226	10	0.59425	D	0.04	-9.7904	13.6438	0.62267	0.0:0.8824:0.0:0.1176	.	225	Q5VTR2	BRE1A_HUMAN	F	225	ENSP00000373772:L225F	ENSP00000373772:L225F	L	+	1	0	RNF20	103346914	1.000000	0.71417	0.993000	0.49108	0.901000	0.52897	2.961000	0.49168	2.937000	0.99478	0.650000	0.86243	CTC		0.413	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	157	0	0	0	1	0	5	157					T	104307093	C	T	104307093	3	4	479	1	0	0	0	0	1	0	0	0	13473	681	24	2	691	2	RNF20	9	104307093	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	29959745	104307093	36906338	27	39028											
NRP1	8829	broad.mit.edu	37	chr10	33619800	33619800	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaatttttatagtatcGccacatttatctgcaatgaa	4	8	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:33619800G>A	ENST00000265371.4	-	3	609	c.84C>T	c.(82-84)ggC>ggT	p.G28G	NRP1_ENST00000395995.1_Silent_p.G28G|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000432372.2_Silent_p.G28G			O14786	NRP1_HUMAN	neuropilin 1	28	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)	TTATAGTATCGCCACATTTAT	0.378																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				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						c.(82-84)ggC>ggT		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						77	85	82					10																	33619800		2203	4299	6502	SO:0001819	synonymous_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33619800G>A	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.84C>T	10.37:g.33619800G>A						NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000395995.1_Silent_p.G28G	p.G28G			O14786	NRP1_HUMAN			3	609	-			28			CUB 1.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.84C>T	CCDS7177.1																																																																																				0.378	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			36	90	0	0	0	1	0	36	90					A	33619800	G	A	33619800	2	1	479	1	0	0	0	0	0	0	0	1	10660	1074	38	1		1	NRP1	10	33619800	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		33619800	101914947	28	39029											
FAM35A	54537	broad.mit.edu	37	chr10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttaaaatatcaactgataCagaatttctcagtataatta	3	7	2	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:88911830C>A	ENST00000298784.1	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.T240K	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			2	Substitution - Missense(2)	p.T240K(2)	large_intestine(1)|kidney(1)	endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(718-720)aCa>aAa		family with sequence similarity 35, member A							30	30	30					10																	88911830		2203	4295	6498	SO:0001583	missense	54537							g.chr10:88911830C>A	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.719C>A	10.37:g.88911830C>A	ENSP00000298784:p.Thr240Lys					FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K	p.T240K			Q86V20	FA35A_HUMAN			3	833	+			240					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.719C>A	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	16.25	3.071539	0.55646	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.27104	1.7;1.69;1.69	4.09	3.09	0.35607	.	0.289768	0.25801	N	0.028214	T	0.45716	0.1356	.	.	.	0.34044	D	0.655393	D	0.63046	0.992	D	0.65573	0.936	T	0.61700	-0.7009	9	0.59425	D	0.04	-9.6069	12.3445	0.55114	0.0:0.9021:0.0:0.0979	.	240	Q86V20	FA35A_HUMAN	K	240	ENSP00000298786:T240K;ENSP00000298784:T240K;ENSP00000351064:T240K	ENSP00000298784:T240K	T	+	2	0	FAM35A	88901810	1.000000	0.71417	0.665000	0.29768	0.884000	0.51177	2.667000	0.46808	2.134000	0.65973	0.537000	0.68136	ACA		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		4	127	1	0	1	1	1	4	127					A	88911830	C	A	88911830	3	1	479	1	0	0	0	0	1	0	0	0	5553	478	17	4	721	4	FAM35A	10	88911830	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	55292030	88911830	46622917	29	39030											
CDHR5	53841	broad.mit.edu	37	chr11	621209	621209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttcagcactagtgtggcGgtggcagtgtggctgggttc	17	8	1	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:621209G>A	ENST00000358353.3	-	8	982	c.660C>T	c.(658-660)acC>acT	p.T220T	CDHR5_ENST00000397542.2_Silent_p.T220T|CDHR5_ENST00000349570.7_Silent_p.T220T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				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						CTAGTGTGGCGGTGGCAGTGT	0.652																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(658-660)acC>acT		cadherin-related family member 5							61	62	62					11																	621209		2203	4299	6502	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621209G>A	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.660C>T	11.37:g.621209G>A						CDHR5_ENST00000397542.2_Silent_p.T220T|CDHR5_ENST00000349570.7_Silent_p.T220T	p.T220T			Q9HBB8	CDHR5_HUMAN			8	982	-			220			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.660C>T	CCDS7707.1																																																																																				0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		52	56	0	0	0	1	0	52	56					A	621209	G	A	621209	2	1	479	1	0	0	0	0	0	0	0	1	3122	1103	39	1		1	CDHR5	11	621209	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		621209	134385307	30	39031											
OR4C13	283092	broad.mit.edu	37	chr11	49974720	49974720	+	Missense_Mutation	SNP	T	T	A													cacagttgtcatcttatcctTtataccctgcatatttgtgt							TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974720T>A	ENST00000555099.1	+	1	778	c.746T>A	c.(745-747)tTt>tAt	p.F249Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249						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(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCTTATCCTTTATACCCTGC	0.438																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(745-747)tTt>tAt		olfactory receptor, family 4, subfamily C, member 13							179	160	166					11																	49974720		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974720T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.746T>A	11.37:g.49974720T>A	ENSP00000452277:p.Phe249Tyr						p.F249Y	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	778	+			249					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.746T>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.303	1.053676	0.19907	.	.	ENSG00000258817	ENST00000555099	T	0.53206	0.63	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000202	T	0.43500	0.1250	N	0.13043	0.29	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.13388	-1.0511	9	.	.	.	.	5.4092	0.16339	0.2513:0.0:0.0:0.7486	.	249	Q8NGP0	OR4CD_HUMAN	Y	249	ENSP00000452277:F249Y	.	F	+	2	0	OR4C13	49931296	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	0.090000	0.15025	1.342000	0.45619	0.156000	0.16432	TTT		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		138	200	0	0	0	1	0	138	200					A	49974720	T	A	49974720	3	1	479	1	0	0	0	0	1	0	0	0	11047	1841	64	5	748	5	OR4C13	11	49974720	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	49353511	49974720	85031796	31	39032	161	2									
OR4C13	283092	broad.mit.edu	37	chr11	49974721	49974721	+	Silent	SNP	T	T	C													acagttgtcatcttatccttTataccctgcatatttgtgta							TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974721T>C	ENST00000555099.1	+	1	779	c.747T>C	c.(745-747)ttT>ttC	p.F249F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249						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(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATCCTTTATACCCTGCA	0.438																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(745-747)ttT>ttC		olfactory receptor, family 4, subfamily C, member 13							177	158	164					11																	49974721		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974721T>C	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.747T>C	11.37:g.49974721T>C							p.F249F	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	779	+			249					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.747T>C	CCDS31495.1																																																																																				0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		141	197	0	0	0	1	0	141	197					C	49974721	T	C	49974721	2	2	479	1	0	0	0	0	0	0	0	1	11047	1751	61	3		3	OR4C13	11	49974721	Silent	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	1	49974721	85031795	32	39033	161	2									
OR10W1	81341	broad.mit.edu	37	chr11	58034747	58034747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaggcacagcaatggctagtAtggctgccaccagcactgac	11	12	0	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:58034747A>T	ENST00000395079.2	-	1	985	c.584T>A	c.(583-585)aTa>aAa	p.I195K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	195						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)				AATGGCTAGTATGGCTGCCAC	0.547																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(583-585)aTa>aAa		olfactory receptor, family 10, subfamily W, member 1							98	80	86					11																	58034747		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034747A>T	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.584T>A	11.37:g.58034747A>T	ENSP00000378516:p.Ile195Lys						p.I195K	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	985	-		Breast(21;0.0589)	195					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.584T>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	A	9.637	1.137872	0.21123	.	.	ENSG00000172772	ENST00000395079	T	0.41065	1.01	5.34	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.411941	0.20781	N	0.085792	T	0.45216	0.1331	M	0.90922	3.16	0.09310	N	1	B	0.24768	0.111	B	0.18871	0.023	T	0.50808	-0.8784	10	0.87932	D	0	.	4.7388	0.13003	0.3855:0.1513:0.4632:0.0	.	195	Q8NGF6	O10W1_HUMAN	K	195	ENSP00000378516:I195K	ENSP00000378516:I195K	I	-	2	0	OR10W1	57791323	0.000000	0.05858	0.156000	0.22583	0.496000	0.33645	0.052000	0.14163	0.377000	0.24735	-0.177000	0.13119	ATA		0.547	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		36	36	0	0	0	1	0	36	36					T	58034747	A	T	58034747	3	4	479	1	0	0	0	0	1	0	0	0	10921	449	16	5	337	5	OR10W1	11	58034747	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	8060026	58034747	76971769	33	39034											
SLC22A9	114571	broad.mit.edu	37	chr11	63149682	63149682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagcacaaaaaaaaaaaCcttctctgtgtgaaatgctc	7	9	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:63149682C>A	ENST00000279178.3	+	6	1255	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	336					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAAAAAACCTTCTCTGTG	0.388																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(1006-1008)Cct>Act		solute carrier family 22 (organic anion transporter), member 9							154	144	147					11																	63149682		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63149682C>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1006C>A	11.37:g.63149682C>A	ENSP00000279178:p.Pro336Thr					SLC22A9_ENST00000310969.4_3'UTR	p.P336T	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1255	+			336					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1006C>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	C	9.407	1.079576	0.20309	.	.	ENSG00000149742	ENST00000279178	T	0.56103	0.48	3.53	1.48	0.22813	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.609530	0.16559	U	0.209131	T	0.36580	0.0972	N	0.02266	-0.62	0.09310	N	1	D	0.67145	0.996	D	0.64687	0.928	T	0.13845	-1.0494	10	0.25751	T	0.34	.	4.3867	0.11319	0.0:0.5323:0.33:0.1378	.	336	Q8IVM8	S22A9_HUMAN	T	336	ENSP00000279178:P336T	ENSP00000279178:P336T	P	+	1	0	SLC22A9	62906258	0.000000	0.05858	0.020000	0.16555	0.526000	0.34562	-2.223000	0.01214	0.756000	0.33013	0.134000	0.15878	CCT		0.388	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		6	369	1	0	0.0381472	1	0.0402665	6	369					A	63149682	C	A	63149682	3	1	479	1	0	0	0	0	1	0	0	0	14461	507	18	4	1028	4	SLC22A9	11	63149682	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	5114935	63149682	71856834	34	39035											
CD163	9332	broad.mit.edu	37	chr12	7639259	7639259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaccagtggcattaatgGcctctccacagcccagctgt	9	14	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr12:7639259G>A	ENST00000359156.4	-	10	2496	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000396620.3_Missense_Mutation_p.A798V|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.A753V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	765	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCATTAATGGCCTCTCCACA	0.537																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2293-2295)gCc>gTc		CD163 molecule							166	164	165					12																	7639259		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639259G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2294C>T	12.37:g.7639259G>A	ENSP00000352071:p.Ala765Val					CD163_ENST00000396620.3_Missense_Mutation_p.A798V|CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000541972.1_Missense_Mutation_p.A753V	p.A765V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2496	-			765			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2294C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843430	0.91197	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.54	5.54	0.83059	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000001	T	0.79370	0.4434	M	0.75150	2.29	0.44995	D	0.998013	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.97110	1.0;0.605;1.0	T	0.79669	-0.1707	10	0.54805	T	0.06	.	17.3432	0.87303	0.0:0.0:1.0:0.0	.	798;765;765	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	765;753;798;765	ENSP00000352071:A765V;ENSP00000444071:A753V;ENSP00000379863:A798V;ENSP00000403885:A765V	ENSP00000352071:A765V	A	-	2	0	CD163	7530526	1.000000	0.71417	0.981000	0.43875	0.986000	0.74619	7.964000	0.87933	2.776000	0.95493	0.650000	0.86243	GCC		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		41	218	0	0	0	1	0	41	218					A	7639259	G	A	7639259	3	1	479	1	0	0	0	0	1	0	0	0	2967	1203	42	2	1204	2	CD163	12	7639259	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		7639259	126212636	35	39036											
TMX1	81542	broad.mit.edu	37	chr14	51713839	51713839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaatttaggcgctatcAgggtccaaggactaagaagg	14	6	1	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr14:51713839A>G	ENST00000457354.2	+	4	469	c.344A>G	c.(343-345)cAg>cGg	p.Q115R	SNORA70_ENST00000364506.1_RNA	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	115	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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						AGGCGCTATCAGGGTCCAAGG	0.338																																						ENST00000457354.2																			0				endometrium(2)|large_intestine(2)|urinary_tract(1)	5						c.(343-345)cAg>cGg		thioredoxin-related transmembrane protein 1							124	117	119					14																	51713839		1816	4085	5901	SO:0001583	missense	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51713839A>G	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.344A>G	14.37:g.51713839A>G	ENSP00000393316:p.Gln115Arg						p.Q115R	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN			4	469	+			115			Thioredoxin.		B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	ENST00000457354.2	37	c.344A>G	CCDS41953.1	.	.	.	.	.	.	.	.	.	.	A	7.334	0.619621	0.14193	.	.	ENSG00000139921	ENST00000457354	T	0.69806	-0.43	5.68	4.51	0.55191	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.106427	0.64402	D	0.000004	T	0.50480	0.1618	N	0.03084	-0.415	0.40413	D	0.979766	D;B	0.57571	0.98;0.001	P;B	0.53649	0.731;0.014	T	0.48222	-0.9054	10	0.15066	T	0.55	-2.0215	10.7469	0.46185	0.853:0.0:0.0:0.147	.	31;115	B4DZX7;Q9H3N1	.;TMX1_HUMAN	R	115	ENSP00000393316:Q115R	ENSP00000393316:Q115R	Q	+	2	0	TMX1	50783589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.545000	0.73883	0.933000	0.37291	0.460000	0.39030	CAG		0.338	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755		4	204	0	0	0	1	0	4	204					G	51713839	A	G	51713839	3	3	479	1	0	0	0	0	1	0	0	0	16263	188	7	3	358	3	TMX1	14	51713839	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		51713839	55635701	36	39037											
TLN2	83660	broad.mit.edu	37	chr15	63092622	63092622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctttctgatctcatcaGtgctaccaagggagctgcca	10	13	3	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr15:63092622G>T	ENST00000561311.1	+	48	6520	c.6290G>T	c.(6289-6291)aGt>aTt	p.S2097I	TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I			Q9Y4G6	TLN2_HUMAN	talin 2	2097					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						GATCTCATCAGTGCTACCAAG	0.552																																						ENST00000561311.1																			0				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						c.(6289-6291)aGt>aTt		talin 2							90	89	89					15																	63092622		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63092622G>T	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.6290G>T	15.37:g.63092622G>T	ENSP00000453508:p.Ser2097Ile					TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I	p.S2097I			Q9Y4G6	TLN2_HUMAN			48	6520	+			2097					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6290G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446663	0.63178	.	.	ENSG00000171914	ENST00000306829	T	0.13778	2.56	5.8	5.8	0.92144	.	0.191426	0.56097	D	0.000029	T	0.14570	0.0352	L	0.51422	1.61	0.33219	D	0.554382	P	0.38020	0.615	B	0.35813	0.211	T	0.12708	-1.0537	10	0.39692	T	0.17	-12.2146	13.2885	0.60258	0.072:0.0:0.928:0.0	.	2097	Q9Y4G6	TLN2_HUMAN	I	2097	ENSP00000303476:S2097I	ENSP00000303476:S2097I	S	+	2	0	TLN2	60879675	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.008000	0.88588	2.744000	0.94065	0.655000	0.94253	AGT		0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			7	229	1	0	0.0293803	1	0.0315977	7	229					T	63092622	G	T	63092622	3	4	479	1	0	0	0	0	1	0	0	0	15945	1029	36	4	6472	4	TLN2	15	63092622	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		63092622	39438770	37	39038											
NUBP2	3483	broad.mit.edu	37	chr16	1838702	1838702	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattctggacgcgacgcccgCgtgcctcccctgactaaggc	12	16	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:1838702C>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E|NUBP2_ENST00000262302.9_Missense_Mutation_p.A268E|NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCGACGCCCGCGTGCCTCCCC	0.652																																						ENST00000262302.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(802-804)gCg>gAg		nucleotide binding protein 2							28	27	27					16																	1838702		2197	4296	6493	SO:0001628	intergenic_variant	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1838702C>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838702C>A						NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E	p.A268E	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN			7	923	+			268					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.803C>A	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699922	0.48307	.	.	ENSG00000095906	ENST00000262302;ENST00000543305	T;T	0.22539	2.24;1.95	4.97	3.0	0.34707	.	0.936173	0.08997	N	0.863535	T	0.14960	0.0361	N	0.14661	0.345	0.09310	N	1	P	0.48764	0.915	P	0.46543	0.52	T	0.09037	-1.0693	10	0.10902	T	0.67	-9.9788	9.8274	0.40921	0.0:0.8271:0.0:0.1729	.	268	Q9Y5Y2	NUBP2_HUMAN	E	268;127	ENSP00000262302:A268E;ENSP00000437763:A127E	ENSP00000262302:A268E	A	+	2	0	NUBP2	1778703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.170000	0.16663	0.499000	0.27970	-0.143000	0.13931	GCG		0.652	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			3	53	1	0	1	1	1	3	53					A	1838702	C	A	1838702	1	1	479	0	1	0	0	0	0	0	0	0	10716	768	27	4		4	NUBP2	16	1838702	IGR	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		1838702	88516051	38	39039											
ITGAL	3683	broad.mit.edu	37	chr16	30505561	30505561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacctggctgccctcccgGcaaaagacttcgttgctggc	12	14	0	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:30505561G>A	ENST00000356798.6	+	12	1422	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	414					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)	TGCCCTCCCGGCAAAAGACTT	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				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						c.(1240-1242)cgG>cgA		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						59	61	60					16																	30505561		2197	4300	6497	SO:0001819	synonymous_variant	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30505561G>A		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.1242G>A	16.37:g.30505561G>A						ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000568012.1_3'UTR	p.R414R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			12	1422	+			414					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.1242G>A	CCDS32433.1																																																																																				0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			6	157	0	0	0	1	0	6	157					A	30505561	G	A	30505561	2	1	479	1	0	0	0	0	0	0	0	1	7886	1190	42	2		2	ITGAL	16	30505561	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	28666859	30505561	59849192	39	39040											
SMG6	23293	broad.mit.edu	37	chr17	2202239	2202239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccctccggactgatgCggtccctggagagcaggttg	15	13	0	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:2202239C>T	ENST00000263073.6	-	2	1858	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SMG6_ENST00000544865.1_Missense_Mutation_p.R572H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	603					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						CGGACTGATGCGGTCCCTGGA	0.582																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				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						c.(1714-1716)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							160	157	158					17																	2202239		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202239C>T	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.1808G>A	17.37:g.2202239C>T	ENSP00000263073:p.Arg603His					SMG6_ENST00000263073.5_Missense_Mutation_p.R603H	p.R572H			Q86US8	EST1A_HUMAN			2	2225	-			603					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1715G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773612	0.49786	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.17528	2.27;2.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.29908	0.895	0.52501	D	0.999958	D	0.89917	1.0	D	0.64506	0.926	T	0.00995	-1.1487	10	0.41790	T	0.15	-4.8096	19.7468	0.96255	0.0:1.0:0.0:0.0	.	603	Q86US8	EST1A_HUMAN	H	603;572	ENSP00000263073:R603H;ENSP00000443920:R572H	ENSP00000263073:R603H	R	-	2	0	SMG6	2148989	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.551000	0.60740	2.731000	0.93534	0.650000	0.86243	CGC		0.582	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			6	479	0	0	0	1	0	6	479					T	2202239	C	T	2202239	3	4	479	1	0	0	0	0	1	0	0	0	14797	768	27	1	2523	1	SMG6	17	2202239	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		2202239	78992971	40	39041											
TP53	7157	broad.mit.edu	37	chr17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaagaagcccagacggAaaccgtagctgccctggtag	12	11	0	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:7579361A>G	ENST00000269305.4	-	4	515	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000420246.2_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GCCCAGACGGAAACCGTAGCT	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		31	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(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						c.(325-327)tTc>tCc	Other conserved DNA damage response genes	tumor protein p53							62	59	60					17																	7579361		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579361A>G	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.326T>C	17.37:g.7579361A>G	ENSP00000269305:p.Phe109Ser	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)				TP53_ENST00000269305.4_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000455263.2_Missense_Mutation_p.F109S	p.F109S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	458	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	109		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		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	ENST00000269305.4	37	c.326T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433503	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47009	D	0.999288	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;0.996;0.999;0.999;0.999;0.999;0.997	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	109	ENSP00000410739:F109S;ENSP00000352610:F109S;ENSP00000269305:F109S;ENSP00000398846:F109S;ENSP00000391127:F109S;ENSP00000391478:F109S;ENSP00000424104:F109S;ENSP00000426252:F109S	ENSP00000269305:F109S	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		118	14	0	0	0	1	0	118	14					G	7579361	A	G	7579361	3	3	479	1	0	0	0	0	1	0	0	0	16378	246	9	3	976	3	TP53	17	7579361	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	5377122	7579361	73615849	41	39042											
GRB7	2886	broad.mit.edu	37	chr17	37902419	37902419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgtcctctctttgtgCcacctgcagaaagtgaagca	10	11	1	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:37902419C>T	ENST00000309156.4	+	14	1673	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309185.3_Missense_Mutation_p.A443V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	472	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587																																						ENST00000309185.3																			1	Substitution - coding silent(1)	p.C472C(1)	urinary_tract(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1327-1329)gCc>gTc		growth factor receptor-bound protein 7							148	134	139					17																	37902419		2203	4300	6503	SO:0001819	synonymous_variant	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902419C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1416C>T	17.37:g.37902419C>T						GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309156.4_Silent_p.C472C	p.A443V			Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		13	1578	+	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)		0			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1328C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.186042	0.78789	.	.	ENSG00000141738	ENST00000309185;ENST00000394204	T;T	0.56444	0.46;0.46	5.18	0.888	0.19206	.	.	.	.	.	T	0.41465	0.1160	.	.	.	0.24777	N	0.992835	B	0.12013	0.005	B	0.11329	0.006	T	0.40232	-0.9574	8	0.87932	D	0	-27.1618	9.4523	0.38734	0.0:0.6232:0.0:0.3768	.	443	Q14451-2	.	V	443	ENSP00000311752:A443V;ENSP00000377754:A443V	ENSP00000311752:A443V	A	+	2	0	GRB7	35155945	0.969000	0.33509	1.000000	0.80357	0.916000	0.54674	0.215000	0.17562	0.224000	0.20940	-0.974000	0.02594	GCC		0.587	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		5	237	0	0	0	1	0	5	237					T	37902419	C	T	37902419	2	4	479	1	0	0	0	0	0	0	0	1	6759	747	26	2		2	GRB7	17	37902419	Silent	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	30323058	37902419	43292791	42	39043											
EPB41L3	23136	broad.mit.edu	37	chr18	5428387	5428387	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accttgggccaggcaaatctGtttattcgcagccggtcgcg	12	12	1	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr18:5428387G>C	ENST00000341928.2	-	9	1330	c.990C>G	c.(988-990)aaC>aaG	p.N330K	EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K|EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	330	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						AGGCAAATCTGTTTATTCGCA	0.428																																						ENST00000341928.2																			0				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						c.(988-990)aaC>aaG		erythrocyte membrane protein band 4.1-like 3							146	148	147					18																	5428387		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428387G>C	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.990C>G	18.37:g.5428387G>C	ENSP00000343158:p.Asn330Lys					EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K	p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1330	-			330			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.990C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149061	0.78001	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.45	3.58	0.41010	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.041333	0.85682	D	0.000000	D	0.92004	0.7467	M	0.93550	3.43	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.986;1.0;1.0	D;D;P;D;D	0.83275	0.995;0.993;0.827;0.995;0.996	D	0.92156	0.5732	10	0.87932	D	0	.	8.9946	0.36043	0.2611:0.0:0.7389:0.0	.	330;330;221;330;330	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	K	330;221;330;221;330;330	ENSP00000343158:N330K;ENSP00000441174:N330K;ENSP00000341138:N330K;ENSP00000382981:N330K	ENSP00000343158:N330K	N	-	3	2	EPB41L3	5418387	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.148000	0.42235	1.207000	0.43291	0.655000	0.94253	AAC		0.428	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		10	320	0	0	0	1	0	10	320					C	5428387	G	C	5428387	3	2	479	1	0	0	0	0	1	0	0	0	5154	1368	48	4	2329	4	EPB41L3	18	5428387	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		5428387	72648861	43	39044											
PCSK4	54760	broad.mit.edu	37	chr19	1487226	1487226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgggaccccagctggCgctgtaaatgtggatgtgct	14	11	0	0			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:1487226C>T	ENST00000300954.5	-	7	830	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGCTGGCGCTGTAAATG	0.682																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(769-771)Gcc>Acc		proprotein convertase subtilisin/kexin type 4							20	21	21					19																	1487226		2202	4295	6497	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487226C>T	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.769G>A	19.37:g.1487226C>T	ENSP00000300954:p.Ala257Thr					PCSK4_ENST00000587784.1_5'UTR	p.A257T	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		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)	7	830	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	257			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.769G>A	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	32	5.177967	0.94846	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.87729	-2.29	3.63	3.63	0.41609	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.115400	0.36591	U	0.002506	D	0.94932	0.8361	H	0.94264	3.515	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.96248	0.9181	10	0.87932	D	0	.	14.2003	0.65699	0.0:1.0:0.0:0.0	.	257;69	Q6UW60;B3KQ28	PCSK4_HUMAN;.	T	257;69	ENSP00000300954:A257T	ENSP00000300954:A257T	A	-	1	0	PCSK4	1438226	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.202000	0.77856	1.742000	0.51746	0.491000	0.48974	GCC		0.682	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		25	17	0	0	0	1	0	25	17					T	1487226	C	T	1487226	3	4	479	1	0	0	0	0	1	0	0	0	11602	768	27	1	1534	1	PCSK4	19	1487226	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		1487226	57641757	44	39045											
ZNF254	9534	broad.mit.edu	37	chr19	24309234	24309234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttataatggacttaaccaGtgtttcacaactgcccagag	9	9	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:24309234G>A	ENST00000357002.4	+	4	547	c.432G>A	c.(430-432)caG>caA	p.Q144Q	ZNF254_ENST00000342944.6_Silent_p.Q59Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GACTTAACCAGTGTTTCACAA	0.313																																						ENST00000357002.4																			0											c.(430-432)caG>caA		zinc finger protein 254							65	67	67					19																	24309234		2203	4300	6503	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309234G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.432G>A	19.37:g.24309234G>A						ZNF254_ENST00000342944.6_Silent_p.Q59Q	p.Q144Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	547	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	144					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.432G>A	CCDS32983.1																																																																																				0.313	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	196	0	0	0	1	0	4	196					A	24309234	G	A	24309234	2	1	479	1	0	0	0	0	0	0	0	1	17795	1020	36	2		2	ZNF254	19	24309234	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	22822008	24309234	34819749	45	39046											
TPTE	7179	broad.mit.edu	37	chr21	10941931	10941931	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattggatttctatagaaagActgccttccagaagatggaa	10	6	1	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:10941931A>T	ENST00000361285.4	-	14	1101	c.772T>A	c.(772-774)Tct>Act	p.S258T	TPTE_ENST00000298232.7_Missense_Mutation_p.S240T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	258	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGAAAGACTGCCTTCCA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(718-720)Tct>Act		transmembrane phosphatase with tensin homology							219	212	214					21																	10941931		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10941931A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.772T>A	21.37:g.10941931A>T	ENSP00000355208:p.Ser258Thr					TPTE_ENST00000361285.4_Missense_Mutation_p.S258T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T	p.S240T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	13	1085	-			258			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.718T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.991	-0.004425	0.07773	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98474	-4.95;-4.95;-4.95	1.8	0.49	0.16861	Phosphatase tensin type (1);	0.133611	0.52532	U	0.000075	D	0.96414	0.8830	M	0.78801	2.425	0.39718	D	0.971435	P;P;B	0.40794	0.544;0.729;0.404	B;B;B	0.40009	0.316;0.316;0.118	D	0.92759	0.6222	10	0.52906	T	0.07	-16.5856	5.1734	0.15122	0.7406:0.0:0.0:0.2594	.	220;240;258	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	T	240;258;220	ENSP00000298232:S240T;ENSP00000355208:S258T;ENSP00000344441:S220T	ENSP00000298232:S240T	S	-	1	0	TPTE	9963802	1.000000	0.71417	0.251000	0.24312	0.097000	0.18754	2.071000	0.41500	0.121000	0.18284	0.163000	0.16589	TCT		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	560	0	0	0	1	0	5	560					T	10941931	A	T	10941931	3	4	479	1	0	0	0	0	1	0	0	0	16427	275	10	5	927	5	TPTE	21	10941931	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		10941931	37187964	46	39047											
EMID1	129080	broad.mit.edu	37	chr22	29629640	29629640	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccccacaggtgtccctggGagtcctggtcacatagtgag	14	12	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:29629640G>A	ENST00000404820.3	+	10	1078	c.951G>A	c.(949-951)ggG>ggA	p.G317G	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000334018.6_Silent_p.G317G			Q96A84	EMID1_HUMAN	EMI domain containing 1	315	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GTGTCCCTGGGAGTCCTGGTC	0.522																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(949-951)ggG>ggA		EMI domain containing 1							146	123	130					22																	29629640		2203	4300	6503	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29629640G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.951G>A	22.37:g.29629640G>A						EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000404820.3_Silent_p.G317G	p.G317G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			10	1139	+			315			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.951G>A		.	.	.	.	.	.	.	.	.	.	G	9.827	1.187459	0.21870	.	.	ENSG00000186998	ENST00000433143	D	0.99353	-5.77	5.31	-0.187	0.13268	.	0.968910	0.08419	N	0.948659	D	0.98779	0.9589	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.96704	0.9520	7	0.87932	D	0	-8.6171	8.6635	0.34108	0.0997:0.4483:0.452:0.0	.	.	.	.	E	180	ENSP00000408339:G180E	ENSP00000408339:G180E	G	+	2	0	EMID1	27959640	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.698000	0.25571	0.161000	0.19458	-0.264000	0.10439	GGA		0.522	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		25	46	0	0	0	1	0	25	46					A	29629640	G	A	29629640	2	1	479	1	0	0	0	0	0	0	0	1	5091	1161	41	2		2	EMID1	22	29629640	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		29629640	21674926	47	39048											
CLCN4	1183	broad.mit.edu	37	chrX	10181805	10181805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcgtgcccctgatggCggcggctgtgaccagcaagt	14	12	0	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:10181805C>T	ENST00000380833.4	+	11	2052	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V|AC003666.1_ENST00000410201.1_RNA|CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	554					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCCTGATGGCGGCGGCTGTG	0.537																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1660-1662)gCg>gTg		chloride channel, voltage-sensitive 4							95	84	88					X																	10181805		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10181805C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1661C>T	X.37:g.10181805C>T	ENSP00000370213:p.Ala554Val					CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V	p.A554V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			11	2052	+			554					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1661C>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322661	0.23994	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93488	-3.23;-3.23;-3.23	5.4	5.4	0.78164	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	N	0.05259	-0.085	0.80722	D	1	B	0.18610	0.029	B	0.16722	0.016	T	0.80959	-0.1149	10	0.13108	T	0.6	-20.361	18.3217	0.90241	0.0:1.0:0.0:0.0	.	554	P51793	CLCN4_HUMAN	V	554;523;460	ENSP00000370213:A554V;ENSP00000370209:A523V;ENSP00000405754:A460V	ENSP00000370209:A523V	A	+	2	0	CLCN4	10141805	1.000000	0.71417	0.950000	0.38849	0.233000	0.25261	5.910000	0.69931	2.267000	0.75376	0.600000	0.82982	GCG		0.537	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			75	127	0	0	0	1	0	75	127					T	10181805	C	T	10181805	3	4	479	1	0	0	0	0	1	0	0	0	3465	768	27	1	1695	1	CLCN4	23	10181805	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		10181805	145088755	48	39049											
MCF2	4168	broad.mit.edu	37	chrX	138697040	138697040	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaaagtaagacattttacCttgtttagatgaaaaaaatg	8	3	0	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:138697040C>A	ENST00000370576.4	-	10	1572	c.1363G>T	c.(1363-1365)Ggg>Tgg	p.G455W	MCF2_ENST00000414978.1_Splice_Site_p.G515W|MCF2_ENST00000519895.1_Splice_Site_p.V515L|MCF2_ENST00000370573.4_Splice_Site_p.G455W|MCF2_ENST00000370578.4_Splice_Site_p.G600W|MCF2_ENST00000536274.1_Splice_Site_p.G416W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000338585.6_Splice_Site_p.V455L|MCF2_ENST00000520602.1_Splice_Site_p.G515W	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	455					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)					GACATTTTACCTTGTTTAGAT	0.363																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.e13+1		MCF.2 cell line derived transforming sequence							116	113	114					X																	138697040		2203	4300	6503	SO:0001630	splice_region_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138697040C>A		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.1363+1G>T	X.37:g.138697040C>A						MCF2_ENST00000536274.1_Splice_Site_p.G416_splice|MCF2_ENST00000414978.1_Splice_Site_p.G515_splice|MCF2_ENST00000370578.4_Splice_Site_p.G600_splice|MCF2_ENST00000370576.4_Splice_Site_p.G455_splice|MCF2_ENST00000519895.1_Splice_Site_p.V515_splice|MCF2_ENST00000370573.4_Splice_Site_p.G455_splice|MCF2_ENST00000338585.6_Splice_Site_p.V455_splice|MCF2_ENST00000483690.1_5'UTR	p.G515_splice			P10911	MCF2_HUMAN			13	1828	-	Acute lymphoblastic leukemia(192;0.000127)		455			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Splice_Site	SNP	ENST00000370576.4	37	c.1543_splice	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.78|16.78	3.216748|3.216748	0.58452|0.58452	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000370573|ENST00000519895;ENST00000338585	T;T;T;T;T;T;T|T;T	0.52057|0.35048	1.23;1.12;1.02;1.22;1.23;0.68;1.14|1.43;1.33	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.205916|.	0.50627|.	D|.	0.000102|.	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.36672|0.36672	1.1|1.1	0.40018|0.40018	D|D	0.97537|0.97537	D;D;D;D;D|B;D	0.89917|0.61697	1.0;0.989;0.989;0.981;0.981|0.003;0.99	D;P;P;P;P|B;D	0.79108|0.72625	0.992;0.818;0.879;0.76;0.874|0.004;0.978	T|T	0.43180|0.43180	-0.9407|-0.9407	9|8	.|.	.|.	.|.	.|.	17.291|17.291	0.87156|0.87156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600;416;455;600;455|515;455	B7Z3Z2;F5H091;P10911-2;Q5JYJ7;P10911|E9PH77;P10911-4	.;.;.;.;MCF2_HUMAN|.;.	W|L	515;455;416;600;515;58;455|515;455	ENSP00000427745:G515W;ENSP00000359608:G455W;ENSP00000438155:G416W;ENSP00000359610:G600W;ENSP00000397055:G515W;ENSP00000405848:G58W;ENSP00000359605:G455W|ENSP00000430276:V515L;ENSP00000342204:V455L	.|.	G|V	-|-	1|1	0|0	MCF2|MCF2	138524706|138524706	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.537000|0.537000	0.34900|0.34900	5.488000|5.488000	0.66869|0.66869	2.400000|2.400000	0.81607|0.81607	0.600000|0.600000	0.82982|0.82982	GGG|GTG		0.363	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	Missense_Mutation	5	277	1	0	0.184627	1	0.191341	5	277					A	138697040	C	A	138697040	5	1	479	1	0	0	0	0	0	0	1	0	9378	695	24	4	1558	4	MCF2	23	138697040	Splice_Site	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	128515235	138697040	16573520	49	39050											
KAZ	23254	broad.mit.edu	37	chr1	15382609	15382610	+	Frame_Shift_Ins	INS	-	-	G													aaacagtccttagctacgctINSgaccaaggacgtccccaagc							TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:15382609_15382610insG	ENST00000376030.2	+	5	1043_1044	c.749_750insG	c.(748-753)ctgaccfs	p.T251fs	KAZN_ENST00000400798.2_Frame_Shift_Ins_p.T157fs|KAZN_ENST00000400797.3_Frame_Shift_Ins_p.T157fs|KAZN_ENST00000422387.2_Frame_Shift_Ins_p.T251fs|KAZN_ENST00000503743.1_Frame_Shift_Ins_p.T251fs|KAZN_ENST00000361144.5_Frame_Shift_Ins_p.T245fs	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	251	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TTAGCTACGCTGACCAAGGACG	0.614																																						ENST00000376030.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						c.(748-750)cacfs		kazrin, periplakin interacting protein																																				SO:0001589	frameshift_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15382609_15382610insG	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.750dupG	1.37:g.15382610_15382610dupG	ENSP00000365198:p.Thr251fs					KAZN_ENST00000503743.1_Frame_Shift_Ins_p.H250fs|KAZN_ENST00000400797.3_Frame_Shift_Ins_p.H156fs|KAZN_ENST00000361144.5_Frame_Shift_Ins_p.H244fs|KAZN_ENST00000422387.2_Frame_Shift_Ins_p.H250fs|KAZN_ENST00000400798.2_Frame_Shift_Ins_p.H156fs	p.H250fs	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN			5	1043_1044	+			250			Interaction with PPL.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Frame_Shift_Ins	INS	ENST00000376030.2	37	c.749_750insG	CCDS152.2																																																																																				0.614	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		23	58						23	58	---	---	---	---	G	15382610	-	G	15382609	7	5	480	1	0	1	1	0	0	0	0	0	7988	1580	55	0	979	0	KAZ	1	15382609	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RG-01A-11D-A33T-08		15382609	233868012	1	39051											
RGS4	5999	broad.mit.edu	37	chr1	163044271	163044271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcttgatttggtcaaccCgtccagctgtggggcagaaa	11	10	2	2	rs368964432		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:163044271C>T	ENST00000367909.6	+	5	879	c.539C>T	c.(538-540)cCg>cTg	p.P180L	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L|RGS4_ENST00000421743.2_Missense_Mutation_p.P277L	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	180					inactivation of MAPK activity (GO:0000188)|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)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.P180Q(1)|p.P277Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGTCAACCCGTCCAGCTGT	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19413	0.0		0.0	False		,,,				2504	0.0				Ovarian(76;1257 1738 3039 6086)	ENST00000421743.2																			2	Substitution - Missense(2)	p.P180Q(1)|p.P277Q(1)	kidney(2)	breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(829-831)cCg>cTg		regulator of G-protein signaling 4		C	LEU/PRO,LEU/PRO,,LEU/PRO	0,4406		0,0,2203	171	185	181		830,485,,539	1.9	0.2	1		181	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	RGS4	NM_001102445.2,NM_001113380.1,NM_001113381.1,NM_005613.5	98,98,,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,benign	277/303,162/188,,180/206	163044271	1,13005	2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044271C>T	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.539C>T	1.37:g.163044271C>T	ENSP00000356885:p.Pro180Leu					RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L|RGS4_ENST00000367909.6_Missense_Mutation_p.P180L|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L	p.P277L	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN			6	990	+			180					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.830C>T	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868439	0.17322	0.0	1.16E-4	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	T;T;T;T	0.50813	0.73;0.79;0.79;0.79	5.11	1.94	0.25998	.	0.988904	0.08247	N	0.975208	T	0.10252	0.0251	N	0.12887	0.27	0.36683	D	0.879172	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.20940	-1.0260	9	0.31617	T	0.26	.	3.8464	0.08936	0.3305:0.4828:0.0:0.1867	.	180;277	P49798;A7XA59	RGS4_HUMAN;.	L	277;180;162;162	ENSP00000397181:P277L;ENSP00000356885:P180L;ENSP00000433261:P162L;ENSP00000356882:P162L	ENSP00000356882:P162L	P	+	2	0	RGS4	161310895	0.741000	0.28217	0.165000	0.22776	0.547000	0.35210	1.281000	0.33214	0.656000	0.30886	0.655000	0.94253	CCG		0.517	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		41	318	0	0	0	1	0	41	318					T	163044271	C	T	163044271	3	4	480	1	0	0	0	0	1	0	0	0	13307	652	23	1	852	1	RGS4	1	163044271	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	147661662	163044271	86206350	2	39052											
ZNF238	10472	broad.mit.edu	37	chr1	244217137	244217138	+	Frame_Shift_Ins	INS	-	-	A													ccatagtagacatttgctacINSagtgtctgagcgagcagaga							TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:244217137_244217138insA	ENST00000358704.4	+	2	210_211	c.61_62insA	c.(61-63)cagfs	p.Q21fs		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	12					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)										ACATTTGCTACAGTGTCTGAGC	0.505																																						ENST00000358704.4																			0											c.(61-63)gtgfs		zinc finger and BTB domain containing 18																																				SO:0001589	frameshift_variant	10472							g.chr1:244217137_244217138insA	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.62dupA	1.37:g.244217138_244217138dupA	ENSP00000351539:p.Gln21fs						p.V21fs	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	210_211	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Frame_Shift_Ins	INS	ENST00000358704.4	37	c.61_62insA	CCDS1622.1																																																																																				0.505	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		35	75						35	75	---	---	---	---	A	244217138	-	A	244217137	7	5	480	1	0	1	1	0	0	0	0	0	17787	479	17	0	67	0	ZNF238	1	244217137	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RG-01A-11D-A33T-08	81172866	244217137	5033484	3	39053											
OTX1	5013	broad.mit.edu	37	chr2	63283169	63283169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcactcacatcaccacccGcaccagctcagccccatggc	6	20	3	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:63283169G>A	ENST00000282549.2	+	5	1059	c.783G>A	c.(781-783)ccG>ccA	p.P261P	OTX1_ENST00000366671.3_Silent_p.P261P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	261					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|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(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ATCACCACCCGCACCAGCTCA	0.652																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(781-783)ccG>ccA		orthodenticle homeobox 1							135	120	125					2																	63283169		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283169G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.783G>A	2.37:g.63283169G>A						OTX1_ENST00000366671.3_Silent_p.P261P	p.P261P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1059	+	Lung NSC(7;0.121)|all_lung(7;0.211)		261					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.783G>A	CCDS1873.1																																																																																				0.652	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			4	249	0	0	0	1	0	4	249					A	63283169	G	A	63283169	2	1	480	1	0	0	0	0	0	0	0	1	11320	1074	38	1		1	OTX1	2	63283169	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		63283169	179916204	4	39054											
PROKR1	10887	broad.mit.edu	37	chr2	68873329	68873329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggactactatgtggtgCgccagctctcctgggagcac	13	11	1	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:68873329C>T	ENST00000303786.3	+	2	796	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	126					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						CTATGTGGTGCGCCAGCTCTC	0.592																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(376-378)Cgc>Tgc		prokineticin receptor 1							159	141	147					2																	68873329		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873329C>T	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.376C>T	2.37:g.68873329C>T	ENSP00000303775:p.Arg126Cys					PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C	p.R126C			Q8TCW9	PKR1_HUMAN			2	796	+			126					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.376C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926134	0.73327	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.38077	1.16;1.16	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.104529	0.64402	D	0.000002	T	0.51398	0.1672	L	0.56199	1.76	0.52501	D	0.999953	D	0.76494	0.999	D	0.67900	0.954	T	0.46978	-0.9152	10	0.56958	D	0.05	.	11.5339	0.50626	0.1784:0.8216:0.0:0.0	.	126	Q8TCW9	PKR1_HUMAN	C	126	ENSP00000303775:R126C;ENSP00000377874:R126C	ENSP00000303775:R126C	R	+	1	0	PROKR1	68726833	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.316000	0.51960	2.890000	0.99128	0.650000	0.86243	CGC		0.592	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			21	272	0	0	0	1	0	21	272					T	68873329	C	T	68873329	3	4	480	1	0	0	0	0	1	0	0	0	12552	768	27	1	378	1	PROKR1	2	68873329	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	5590160	68873329	174326044	5	39055											
CIR1	9541	broad.mit.edu	37	chr2	175216364	175216364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtgatggatcatttgCggtcaagtttctccccagta	9	10	3	1	rs554648916		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:175216364C>T	ENST00000342016.3	-	8	666	c.574G>A	c.(574-576)Gca>Aca	p.A192T	CIR1_ENST00000362053.5_Missense_Mutation_p.R201H	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	192					mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GGATCATTTGCGGTCAAGTTT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		17760	0.0		0.0	False		,,,				2504	0.001					ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(574-576)Gca>Aca		corepressor interacting with RBPJ, 1							153	143	146					2																	175216364		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175216364C>T	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.574G>A	2.37:g.175216364C>T	ENSP00000339723:p.Ala192Thr					CIR1_ENST00000362053.5_Missense_Mutation_p.R201H	p.A192T	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			8	666	-			192					A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.574G>A	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566163	0.65651	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.18	4.3	0.51218	.	0.206543	0.42294	N	0.000737	T	0.44329	0.1288	L	0.36672	1.1	0.39621	D	0.970023	B;B	0.28850	0.225;0.047	B;B	0.23574	0.047;0.007	T	0.35325	-0.9793	9	0.14252	T	0.57	.	13.971	0.64240	0.0:0.9252:0.0:0.0748	.	192;192	A0PJI7;Q86X95	.;CIR1_HUMAN	T	192	.	ENSP00000339723:A192T	A	-	1	0	CIR1	174924610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.434000	0.52841	1.316000	0.45131	0.460000	0.39030	GCA		0.403	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		4	247	0	0	0	1	0	4	247					T	175216364	C	T	175216364	3	4	480	1	0	0	0	0	1	0	0	0	3432	768	27	1	790	1	CIR1	2	175216364	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	106343035	175216364	67983009	6	39056											
ALS2	57679	broad.mit.edu	37	chr2	202626336	202626336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttccggcacatactgctgGttggctactgcacactggcc	12	13	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:202626336G>A	ENST00000264276.6	-	4	753	c.381C>T	c.(379-381)aaC>aaT	p.N127N	ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	127					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						CATACTGCTGGTTGGCTACTG	0.527																																						ENST00000264276.6																			0				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						c.(379-381)aaC>aaT		amyotrophic lateral sclerosis 2 (juvenile)							96	93	94					2																	202626336		2084	4221	6305	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626336G>A	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.381C>T	2.37:g.202626336G>A						ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR	p.N127N	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	753	-			127					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.381C>T	CCDS42800.1																																																																																				0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		59	88	0	0	0	1	0	59	88					A	202626336	G	A	202626336	2	1	480	1	0	0	0	0	0	0	0	1	550	1252	44	2		2	ALS2	2	202626336	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	27409972	202626336	40573037	7	39057											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	111	0	0	0	1	0	71	111					T	209113112	C	T	209113112	3	4	480	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	6486776	209113112	34086261	8	39058											
FGD5	152273	broad.mit.edu	37	chr3	14949183	14949183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtccacattgagcacagcGtccggggccaaggggatctc	14	12	1	1	rs199676271		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:14949183G>A	ENST00000285046.5	+	10	3411	c.3301G>A	c.(3301-3303)Gtc>Atc	p.V1101I	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V860I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1101					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						TGAGCACAGCGTCCGGGGCCA	0.627																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3301-3303)Gtc>Atc		FYVE, RhoGEF and PH domain containing 5		G	ILE/VAL	0,3992		0,0,1996	49	55	53		3301	5.2	0.3	3		53	1,8317		0,1,4158	no	missense	FGD5	NM_152536.3	29	0,1,6154	AA,AG,GG		0.012,0.0,0.0081	benign	1101/1463	14949183	1,12309	1996	4159	6155	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14949183G>A	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.3301G>A	3.37:g.14949183G>A	ENSP00000285046:p.Val1101Ile					FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V860I	p.V1101I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			10	3411	+			1101					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3301G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437803	0.62955	0.0	1.2E-4	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.24350	1.86;1.86	5.24	5.24	0.73138	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.50627	D	0.000112	T	0.25082	0.0609	L	0.46157	1.445	0.46203	D	0.998922	P;P	0.43701	0.685;0.815	B;B	0.39706	0.114;0.307	T	0.02047	-1.1223	10	0.41790	T	0.15	-24.3794	14.3421	0.66633	0.0:0.0:1.0:0.0	.	860;1101	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	1101;860	ENSP00000285046:V1101I;ENSP00000445949:V860I	ENSP00000285046:V1101I	V	+	1	0	FGD5	14924187	1.000000	0.71417	0.346000	0.25655	0.951000	0.60555	3.794000	0.55492	2.443000	0.82685	0.591000	0.81541	GTC		0.627	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		18	98	0	0	0	1	0	18	98					A	14949183	G	A	14949183	3	1	480	1	0	0	0	0	1	0	0	0	5836	1145	40	1	3339	1	FGD5	3	14949183	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		14949183	183073247	9	39059											
STAB1	23166	broad.mit.edu	37	chr3	52538884	52538884	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcaccgtcacctttaacCaattcacggtgagggaggag	11	10	3	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:52538884C>T	ENST00000321725.6	+	12	1445	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	457	FAS1 1. {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)		CACCTTTAACCAATTCACGGT	0.622																																						ENST00000321725.6																			0				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						c.(1369-1371)Caa>Taa		stabilin 1							70	66	68					3																	52538884		2203	4300	6503	SO:0001587	stop_gained	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52538884C>T	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.1369C>T	3.37:g.52538884C>T	ENSP00000312946:p.Gln457*						p.Q457*	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	12	1445	+			457			FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	ENST00000321725.6	37	c.1369C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930121	0.52759	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.18	-4.26	0.03755	.	1.882850	0.02321	N	0.072972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.389	0.49802	0.7091:0.1792:0.1116:0.0	.	.	.	.	X	457	.	ENSP00000312946:Q457X	Q	+	1	0	STAB1	52513924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.559000	0.05971	-0.920000	0.03799	-1.086000	0.02197	CAA		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		45	56	0	0	0	1	0	45	56					T	52538884	C	T	52538884	4	4	480	1	0	0	0	0	0	1	0	0	15236	595	21	2	1415	2	STAB1	3	52538884	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	37589701	52538884	145483546	10	39060											
TRIM42	287015	broad.mit.edu	37	chr3	140406741	140406741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatctagaagtgtccaggcAgaaggaaattgaaaaatatg	11	4	1	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:140406741A>G	ENST00000286349.3	+	3	1408	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	406						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGTCCAGGCAGAAGGAAATT	0.443																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1216-1218)cAg>cGg		tripartite motif containing 42							101	98	99					3																	140406741		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406741A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1217A>G	3.37:g.140406741A>G	ENSP00000286349:p.Gln406Arg						p.Q406R	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1408	+			406					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1217A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603800	0.28534	.	.	ENSG00000155890	ENST00000286349	T	0.38887	1.11	5.33	2.8	0.32819	.	0.101355	0.44097	D	0.000488	T	0.23572	0.0570	N	0.19112	0.55	0.26237	N	0.978925	B	0.10296	0.003	B	0.10450	0.005	T	0.11155	-1.0599	10	0.49607	T	0.09	-9.6276	4.301	0.10925	0.7314:0.0:0.0937:0.1749	.	406	Q8IWZ5	TRI42_HUMAN	R	406	ENSP00000286349:Q406R	ENSP00000286349:Q406R	Q	+	2	0	TRIM42	141889431	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.094000	0.50227	0.989000	0.38761	0.454000	0.30748	CAG		0.443	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		4	135	0	0	0	1	0	4	135					G	140406741	A	G	140406741	3	3	480	1	0	0	0	0	1	0	0	0	16514	188	7	3	1227	3	TRIM42	3	140406741	Missense_Mutation	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08	87867857	140406741	57615689	11	39061											
SEL1L3	23231	broad.mit.edu	37	chr4	25849364	25849364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaccgagacttcagaaacGttgcgaacgtttccttcaaa	7	11	3	2	rs371579636		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:25849364G>A	ENST00000399878.3	-	2	407	c.285C>T	c.(283-285)aaC>aaT	p.N95N	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N|SEL1L3_ENST00000502949.1_De_novo_Start_OutOfFrame	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	95						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTCAGAAACGTTGCGAACGT	0.433																																						ENST00000502949.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14								sel-1 suppressor of lin-12-like 3 (C. elegans)		G		0,3702		0,0,1851	92	84	86		285	-3.4	0.3	4		86	1,8223		0,1,4111	no	coding-synonymous	SEL1L3	NM_015187.3		0,1,5962	AA,AG,GG		0.0122,0.0,0.0084		95/1133	25849364	1,11925	1851	4112	5963	SO:0001819	synonymous_variant	23231					integral to membrane	binding	g.chr4:25849364G>A	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.285C>T	4.37:g.25849364G>A						SEL1L3_ENST00000399878.3_Silent_p.N95N|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N				Q68CR1	SE1L3_HUMAN			0	226	-								A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Translation_Start_Site	SNP	ENST00000399878.3	37		CCDS47037.1																																																																																				0.433	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		6	169	0	0	0	1	0	6	169					A	25849364	G	A	25849364	2	1	480	1	0	0	0	0	0	0	0	1	14012	1136	40	1		1	SEL1L3	4	25849364	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		25849364	165304912	12	39062											
SHROOM3	57619	broad.mit.edu	37	chr4	77692035	77692035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcggccttggtgaagatgCcagtaatgaagaaagggtag	15	5	0	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:77692035C>T	ENST00000296043.6	+	10	6559	c.5606C>T	c.(5605-5607)gCc>gTc	p.A1869V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1869	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)			GGTGAAGATGCCAGTAATGAA	0.517																																						ENST00000296043.6																			0				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						c.(5605-5607)gCc>gTc		shroom family member 3							107	105	106					4																	77692035		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77692035C>T	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.5606C>T	4.37:g.77692035C>T	ENSP00000296043:p.Ala1869Val					RP11-359D14.3_ENST00000449007.1_RNA	p.A1869V	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6559	+			1869			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5606C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266967	0.59540	.	.	ENSG00000138771	ENST00000296043	T	0.34275	1.37	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.60560	0.2278	M	0.64170	1.965	0.49213	D	0.999764	D	0.89917	1.0	D	0.83275	0.996	T	0.60647	-0.7222	10	0.87932	D	0	-20.8104	19.6592	0.95857	0.0:1.0:0.0:0.0	.	1869	Q8TF72	SHRM3_HUMAN	V	1869	ENSP00000296043:A1869V	ENSP00000296043:A1869V	A	+	2	0	SHROOM3	77911059	0.996000	0.38824	1.000000	0.80357	0.087000	0.18053	3.049000	0.49869	2.879000	0.98667	0.650000	0.86243	GCC		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	221	0	0	0	1	0	4	221					T	77692035	C	T	77692035	3	4	480	1	0	0	0	0	1	0	0	0	14295	739	26	2	5644	2	SHROOM3	4	77692035	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	51842671	77692035	113462241	13	39063											
ANKH	56172	broad.mit.edu	37	chr5	14749298	14749298	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctctgtggctgcagaacTgccaccaaggtcccgggaaa	11	14	1	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:14749298T>A	ENST00000284268.6	-	6	1135	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	ANKH_ENST00000535119.1_Missense_Mutation_p.S71C|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	269					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTGCAGAACTGCCACCAAGG	0.542																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(805-807)Agt>Tgt		ANKH inorganic pyrophosphate transport regulator							73	77	75					5																	14749298		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14749298T>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.805A>T	5.37:g.14749298T>A	ENSP00000284268:p.Ser269Cys					ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.S71C	p.S269C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			6	1135	-			269					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.805A>T	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714353	0.89112	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95918	-3.85;-3.85	5.91	5.91	0.95273	.	0.037145	0.85682	D	0.000000	D	0.96059	0.8716	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.57548	0.823	D	0.96402	0.9297	10	0.72032	D	0.01	-39.1601	15.5295	0.75942	0.0:0.0:0.0:1.0	.	269	Q9HCJ1	ANKH_HUMAN	C	71;269	ENSP00000442524:S71C;ENSP00000284268:S269C	ENSP00000284268:S269C	S	-	1	0	ANKH	14802298	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.079000	0.64431	2.254000	0.74563	0.533000	0.62120	AGT		0.542	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		4	145	0	0	0	1	0	4	145					A	14749298	T	A	14749298	3	1	480	1	0	0	0	0	1	0	0	0	627	1580	55	5	701	5	ANKH	5	14749298	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08		14749298	166165962	14	39064											
NIPBL	25836	broad.mit.edu	37	chr5	36976456	36976456	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattgagcgaatagagagaGaatcagctattgaaagggag	13	3	1	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:36976456G>T	ENST00000282516.8	+	9	1946	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	483					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)			AATAGAGAGAGAATCAGCTAT	0.363																																						ENST00000282516.8																			0				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						c.(1447-1449)Gaa>Taa		Nipped-B homolog (Drosophila)							67	69	68					5																	36976456		2203	4299	6502	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976456G>T	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.1447G>T	5.37:g.36976456G>T	ENSP00000282516:p.Glu483*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*|NIPBL_ENST00000504430.1_3'UTR	p.E483*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1946	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		483					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.1447G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	41	8.994256	0.99029	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.9344	0.97131	0.0:0.0:1.0:0.0	.	.	.	.	X	483	.	ENSP00000282516:E483X	E	+	1	0	NIPBL	37012213	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.439000	0.97543	2.723000	0.93209	0.460000	0.39030	GAA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		17	165	1	0	1.33834e-09	1	1.39259e-09	17	165					T	36976456	G	T	36976456	4	4	480	1	0	0	0	0	0	1	0	0	10428	943	33	4	1477	4	NIPBL	5	36976456	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	22227158	36976456	143938804	15	39065											
GLRX	2745	broad.mit.edu	37	chr5	95158225	95158225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggttggtggctgtgaTatcgacaaattccagaagcc	13	7	0	2	rs150319338		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:95158225T>C	ENST00000379979.4	-	1	193	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000505427.1_Missense_Mutation_p.I48V|GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V|GLRX_ENST00000507605.1_5'Flank	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	48	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)	GTGGCTGTGATATCGACAAAT	0.498													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17171	0.0		0.0	False		,,,				2504	0.0					ENST00000379979.4																			0				endometrium(3)|large_intestine(1)|lung(1)	5						c.(142-144)Atc>Gtc		glutaredoxin (thioltransferase)	Glutathione(DB00143)	T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	192	171	178		142,142	4	1	5	dbSNP_134	178	0,8600		0,0,4300	no	missense,missense	GLRX	NM_001118890.1,NM_002064.2	29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	48/107,48/107	95158225	1,13005	2203	4300	6503	SO:0001583	missense	2745				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding	g.chr5:95158225T>C		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.142A>G	5.37:g.95158225T>C	ENSP00000369314:p.Ile48Val					GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V|GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000505427.1_Missense_Mutation_p.I48V	p.I48V	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN		all cancers(79;2.62e-16)	1	193	-		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)	48			Glutaredoxin.		B2R4L2|Q3KQS1|Q6ICT1	Missense_Mutation	SNP	ENST00000379979.4	37	c.142A>G	CCDS4078.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971200	0.74246	2.27E-4	0.0	ENSG00000173221	ENST00000508780;ENST00000237858;ENST00000379979;ENST00000505427;ENST00000512469	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.15	3.97	0.46021	Glutaredoxin (2);Glutaredoxin, eukaryotic/virial (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.59912	1.85	0.58432	D	0.999998	B	0.06786	0.001	B	0.17979	0.02	T	0.06661	-1.0814	10	0.66056	D	0.02	-24.8902	7.8397	0.29391	0.0:0.0935:0.0:0.9065	.	48	P35754	GLRX1_HUMAN	V	48	ENSP00000422708:I48V;ENSP00000237858:I48V;ENSP00000369314:I48V;ENSP00000427353:I48V;ENSP00000424636:I48V	ENSP00000237858:I48V	I	-	1	0	GLRX	95183981	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.720000	0.47252	0.957000	0.37930	0.482000	0.46254	ATC		0.498	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370267.1	NM_002064		6	301	0	0	0	1	0	6	301					C	95158225	T	C	95158225	3	2	480	1	0	0	0	0	1	0	0	0	6459	1406	49	3	186	3	GLRX	5	95158225	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	58181769	95158225	85757035	16	39066											
PCDHA1	56147	broad.mit.edu	37	chr5	140166994	140166994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtcatcgccctcatcacCgtgtctgaccgtgactcagg	9	16	5	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:140166994C>T	ENST00000504120.2	+	1	1119	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PCDHA1_ENST00000378133.3_Silent_p.T373T|PCDHA1_ENST00000394633.3_Silent_p.T373T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	373	Cadherin 4. {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)			CCCTCATCACCGTGTCTGACC	0.527																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1117-1119)acC>acT									116	102	106					5																	140166994		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140166994C>T	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.1119C>T	5.37:g.140166994C>T						PCDHA1_ENST00000394633.3_Silent_p.T373T|PCDHA1_ENST00000378133.3_Silent_p.T373T	p.T373T	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1119	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1119C>T	CCDS54913.1																																																																																				0.527	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		32	157	0	0	0	1	0	32	157					T	140166994	C	T	140166994	2	4	480	1	0	0	0	0	0	0	0	1	11519	639	23	1		1	PCDHA1	5	140166994	Silent	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	45008769	140166994	40748266	17	39067											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	15	15	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137	136	136					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	458	0	0	0	1	0	5	458					A	141051740	G	A	141051740	3	1	480	1	0	0	0	0	1	0	0	0	840	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	884746	141051740	39863520	18	39068											
BMP6	654	broad.mit.edu	37	chr6	7845400	7845400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacaaggagttctcccctcGtcagcgacaccacaaagagt	9	14	2	1	rs566660170		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:7845400G>A	ENST00000283147.6	+	2	851	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	231					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.R231H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTCTCCCCTCGTCAGCGACAC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19565	0.0		0.0	False		,,,				2504	0.0					ENST00000283147.6																			1	Substitution - Missense(1)	p.R231H(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(691-693)cGt>cAt		bone morphogenetic protein 6							129	126	127					6																	7845400		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845400G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.692G>A	6.37:g.7845400G>A	ENSP00000283147:p.Arg231His						p.R231H	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	851	+	Ovarian(93;0.0721)		231					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.692G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197499	0.38806	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.66099	-0.19	5.41	2.67	0.31697	Transforming growth factor-beta, N-terminal (1);	0.253249	0.42294	N	0.000739	T	0.17662	0.0424	N	0.12961	0.28	0.25820	N	0.984296	B	0.13145	0.007	B	0.13407	0.009	T	0.15065	-1.0450	10	0.27082	T	0.32	.	4.5659	0.12186	0.3124:0.0:0.5362:0.1514	.	231	P22004	BMP6_HUMAN	H	153;231;194	ENSP00000283147:R231H	ENSP00000283147:R231H	R	+	2	0	BMP6	7790399	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.586000	0.46119	0.659000	0.30945	0.557000	0.71058	CGT		0.468	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		20	187	0	0	0	1	0	20	187					A	7845400	G	A	7845400	3	1	480	1	0	0	0	0	1	0	0	0	1464	1145	40	1	698	1	BMP6	6	7845400	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		7845400	163269667	19	39069											
MICB	4277	broad.mit.edu	37	chr6	31474146	31474146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactatcgcgctatgcaGgcagactgcctgcagaaact	9	13	0	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:31474146G>A	ENST00000252229.6	+	3	631	c.552G>A	c.(550-552)caG>caA	p.Q184Q	MICB_ENST00000538442.1_Silent_p.Q152Q|MICB_ENST00000399150.3_Silent_p.Q141Q	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						GCGCTATGCAGGCAGACTGCC	0.542																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(550-552)caG>caA		MHC class I polypeptide-related sequence B							73	74	73					6																	31474146		1957	4147	6104	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474146G>A		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.552G>A	6.37:g.31474146G>A						MICB_ENST00000538442.1_Silent_p.Q152Q|MICB_ENST00000399150.3_Silent_p.Q141Q	p.Q184Q	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			3	631	+			184						Silent	SNP	ENST00000252229.6	37	c.552G>A	CCDS43449.1																																																																																				0.542	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		46	59	0	0	0	1	0	46	59					A	31474146	G	A	31474146	2	1	480	1	0	0	0	0	0	0	0	1	9575	991	35	2		2	MICB	6	31474146	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	23628746	31474146	139640921	20	39070											
DPPA5	340168	broad.mit.edu	37	chr6	74063933	74063933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgggatatgtctacgtgCcgggagagttcccatcttat	13	10	2	1	rs552630054		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:74063933C>T	ENST00000370370.3	-	1	85	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	6					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TGTCTACGTGCCGGGAGAGTT	0.577																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(16-18)Gca>Aca		developmental pluripotency associated 5							60	52	55					6																	74063933		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063933C>T		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.16G>A	6.37:g.74063933C>T	ENSP00000359396:p.Ala6Thr						p.A6T	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			1	85	-			6					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.16G>A	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	0.862	-0.734811	0.03111	.	.	ENSG00000203909	ENST00000370370	T	0.25912	1.77	3.6	-7.2	0.01495	.	2.226600	0.01754	N	0.030095	T	0.01695	0.0054	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22977	-1.0201	10	0.14656	T	0.56	.	1.8844	0.03235	0.1233:0.1725:0.2449:0.4594	.	6	A6NC42	DPPA5_HUMAN	T	6	ENSP00000359396:A6T	ENSP00000359396:A6T	A	-	1	0	DPPA5	74120654	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.120000	0.03273	-1.760000	0.01312	-0.350000	0.07774	GCA		0.577	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		42	52	0	0	0	1	0	42	52					T	74063933	C	T	74063933	3	4	480	1	0	0	0	0	1	0	0	0	4737	739	26	2	346	2	DPPA5	6	74063933	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	42589787	74063933	97051134	21	39071											
TULP4	56995	broad.mit.edu	37	chr6	158900996	158900996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctccactgccttcatcCccaccatcaaggtaaagccc	4	19	3	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:158900996C>T	ENST00000367097.3	+	7	2597	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	TULP4_ENST00000367094.2_Missense_Mutation_p.P414S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	414	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCCTTCATCCCCACCATCAA	0.637																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1240-1242)Ccc>Tcc		tubby like protein 4							81	80	80					6																	158900996		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900996C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1240C>T	6.37:g.158900996C>T	ENSP00000356064:p.Pro414Ser					TULP4_ENST00000367094.2_Missense_Mutation_p.P414S	p.P414S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	7	2597	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	414			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1240C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686171	0.68157	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61859	0.07;0.07	5.75	5.75	0.90469	Tumour necrosis factor-like (1);SOCS protein, C-terminal (1);	0.053414	0.85682	D	0.000000	T	0.32882	0.0844	L	0.32530	0.975	0.80722	D	1	P;P;P	0.43857	0.78;0.51;0.819	B;B;B	0.40602	0.265;0.273;0.334	T	0.31943	-0.9925	10	0.07175	T	0.84	-27.6073	19.9493	0.97193	0.0:1.0:0.0:0.0	.	414;414;414	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	S	414	ENSP00000356064:P414S;ENSP00000356061:P414S	ENSP00000356061:P414S	P	+	1	0	TULP4	158820984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.397000	0.59690	2.712000	0.92718	0.561000	0.74099	CCC		0.637	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		38	63	0	0	0	1	0	38	63					T	158900996	C	T	158900996	3	4	480	1	0	0	0	0	1	0	0	0	16773	623	22	2	1266	2	TULP4	6	158900996	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	84837063	158900996	12214071	22	39072											
ZNF716	441234	broad.mit.edu	37	chr7	57528833	57528833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgtggcaaatccttTaactgctcttcaacccttac	6	11	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr7:57528833T>C	ENST00000420713.1	+	4	778	c.666T>C	c.(664-666)ttT>ttC	p.F222F		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	222					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						GCAAATCCTTTAACTGCTCTT	0.398																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(664-666)ttT>ttC		zinc finger protein 716							45	40	41					7																	57528833		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57528833T>C	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.666T>C	7.37:g.57528833T>C							p.F222F	NM_001159279.1	NP_001152751.1					4	778	+									Silent	SNP	ENST00000420713.1	37	c.666T>C	CCDS55112.1																																																																																				0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	38	0	0	0	1	0	8	38					C	57528833	T	C	57528833	2	2	480	1	0	0	0	0	0	0	0	1	18116	1751	61	3		3	ZNF716	7	57528833	Silent	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08		57528833	101609830	23	39073											
MFHAS1	9258	broad.mit.edu	37	chr8	8750064	8750064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcaggtgcgccagccGgttaaagctgacatccagct	13	12	1	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:8750064G>A	ENST00000276282.6	-	1	1091	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	169										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGCGCCAGCCGGTTAAAGCTG	0.677																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(505-507)Cgg>Tgg		malignant fibrous histiocytoma amplified sequence 1							22	30	27					8																	8750064		2196	4293	6489	SO:0001583	missense	9258							g.chr8:8750064G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"leucine rich repeat containing 65", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.505C>T	8.37:g.8750064G>A	ENSP00000276282:p.Arg169Trp						p.R169W	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1091	-		Hepatocellular(245;0.217)	169					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.505C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296195	0.23650	.	.	ENSG00000147324	ENST00000276282	T	0.32023	1.47	5.29	4.32	0.51571	.	0.358670	0.26460	N	0.024252	T	0.47563	0.1452	M	0.72624	2.21	0.33595	D	0.601619	D	0.69078	0.997	P	0.54815	0.761	T	0.64635	-0.6361	10	0.62326	D	0.03	.	15.7361	0.77846	0.0:0.0:0.8542:0.1458	.	169	Q9Y4C4	MFHA1_HUMAN	W	169	ENSP00000276282:R169W	ENSP00000276282:R169W	R	-	1	2	MFHAS1	8787474	0.989000	0.36119	1.000000	0.80357	0.205000	0.24178	1.578000	0.36525	2.456000	0.83038	0.563000	0.77884	CGG		0.677	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		6	24	0	0	0	1	0	6	24					A	8750064	G	A	8750064	3	1	480	1	0	0	0	0	1	0	0	0	9521	1115	39	1	2665	1	MFHAS1	8	8750064	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		8750064	137613958	24	39074											
CPNE3	8895	broad.mit.edu	37	chr8	87568561	87568561	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcctttcagacagttcCagaatgtgagtaccactcct	8	11	1	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:87568561C>T	ENST00000521271.1	+	16	1648	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	496	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGACAGTTCCAGAATGTGAG	0.502																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1486-1488)Cag>Tag		copine III							141	111	121					8																	87568561		2203	4300	6503	SO:0001587	stop_gained	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87568561C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1486C>T	8.37:g.87568561C>T	ENSP00000430934:p.Gln496*					CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496*	p.Q496*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			16	1648	+			496			VWFA.		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	c.1486C>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	37	6.391204	0.97529	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	.	.	.	5.62	5.62	0.85841	.	0.289804	0.39475	N	0.001347	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2622	15.1793	0.72941	0.0:0.8595:0.1405:0.0	.	.	.	.	X	496	.	ENSP00000198765:Q496X	Q	+	1	0	CPNE3	87637677	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.909000	0.56363	2.661000	0.90470	0.650000	0.86243	CAG		0.502	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			13	102	0	0	0	1	0	13	102					T	87568561	C	T	87568561	4	4	480	1	0	0	0	0	0	1	0	0	3813	595	21	2	1540	2	CPNE3	8	87568561	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	78818497	87568561	58795461	25	39075											
FAM189A2	9413	broad.mit.edu	37	chr9	72003231	72003231	+	Frame_Shift_Del	DEL	G	G	-													atggacaccaagctgctggtGgcgaggttcctggagcagtc							TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:72003231delG	ENST00000257515.8	+	10	1434	c.1014delG	c.(1012-1014)gtgfs	p.V338fs	FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs|FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000469179.1_3'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	338						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGCTGCTGGTGGCGAGGTTCC	0.483																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1012-1014)gtfs		family with sequence similarity 189, member A2							79	74	76					9																	72003231		2203	4300	6503	SO:0001589	frameshift_variant	9413					integral to membrane		g.chr9:72003231delG	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1014delG	9.37:g.72003231delG	ENSP00000257515:p.Val338fs					FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs	p.V338fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			10	1434	+			338					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Frame_Shift_Del	DEL	ENST00000257515.8	37	c.1014delG	CCDS6629.1																																																																																				0.483	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		11	172						11	172	---	---	---	---	-	72003231	G	-	72003231	7	5	480	1	0	1	0	1	0	0	0	0	5516	1335	47	0	1048	0	FAM189A2	9	72003231	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RG-01A-11D-A33T-08		72003231	69210200	26	39076											
GABBR2	9568	broad.mit.edu	37	chr9	101068571	101068571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccgatgtacttgctgtcGttgagtgcggggatgctgac	14	9	0	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:101068571G>A	ENST00000259455.2	-	15	2520	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	687					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)	ACTTGCTGTCGTTGAGTGCGG	0.547																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(2059-2061)aaC>aaT		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						129	86	101					9																	101068571		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101068571G>A	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.2061C>T	9.37:g.101068571G>A							p.N687N	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			15	2520	-		Acute lymphoblastic leukemia(62;0.0527)	687					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.2061C>T	CCDS6736.1																																																																																				0.547	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			24	38	0	0	0	1	0	24	38					A	101068571	G	A	101068571	2	1	480	1	0	0	0	0	0	0	0	1	6156	1136	40	1		1	GABBR2	9	101068571	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	29065340	101068571	40144860	27	39077											
NHLRC2	374354	broad.mit.edu	37	chr10	115639379	115639379	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atattttcagaatcaactttTaattctccacagggtgtagc	6	8	3	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:115639379T>C	ENST00000369301.3	+	4	1046	c.834T>C	c.(832-834)ttT>ttC	p.F278F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	278										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATCAACTTTTAATTCTCCAC	0.308																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(832-834)ttT>ttC		NHL repeat containing 2							35	37	37					10																	115639379		2202	4287	6489	SO:0001819	synonymous_variant	374354				cell redox homeostasis			g.chr10:115639379T>C	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.834T>C	10.37:g.115639379T>C							p.F278F	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	4	1046	+			278					Q8N1H1|Q8N5A6	Silent	SNP	ENST00000369301.3	37	c.834T>C	CCDS7585.1																																																																																				0.308	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		14	207	0	0	0	1	0	14	207					C	115639379	T	C	115639379	2	2	480	1	0	0	0	0	0	0	0	1	10406	1751	61	3		3	NHLRC2	10	115639379	Silent	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08		115639379	19895368	28	39078											
LIN7C	55327	broad.mit.edu	37	chr11	27520303	27520303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatttaacctttccttgtgCggctttcagcagttctacag	7	10	2	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:27520303C>T	ENST00000278193.2	-	5	507	c.487G>A	c.(487-489)Gca>Aca	p.A163T	LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	163	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)			endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTTCCTTGTGCGGCTTTCAGC	0.388																																						ENST00000278193.2																			0				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(487-489)Gca>Aca		lin-7 homolog C (C. elegans)							211	192	199					11																	27520303		2202	4299	6501	SO:0001583	missense	55327				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		g.chr11:27520303C>T	AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"LIN-7 protein 3"	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.487G>A	11.37:g.27520303C>T	ENSP00000278193:p.Ala163Thr					LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T	p.A163T	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN			5	507	-			163			PDZ.			Missense_Mutation	SNP	ENST00000278193.2	37	c.487G>A	CCDS7864.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606293	0.87157	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.27557	1.66;1.66	6.16	6.16	0.99307	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.31207	0.915	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.85130	0.81;0.997	T	0.36311	-0.9753	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	139;163	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	T	163;139	ENSP00000278193:A163T;ENSP00000435353:A139T	ENSP00000278193:A163T	A	-	1	0	LIN7C	27476879	1.000000	0.71417	0.994000	0.49952	0.236000	0.25371	7.734000	0.84928	2.937000	0.99478	0.650000	0.86243	GCA		0.388	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388311.2	NM_018362		6	213	0	0	0	1	0	6	213					T	27520303	C	T	27520303	3	4	480	1	0	0	0	0	1	0	0	0	8812	768	27	1	110	1	LIN7C	11	27520303	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		27520303	107486213	29	39079											
KBTBD4	55709	broad.mit.edu	37	chr11	47597155	47597155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgccttaccttcaagcttGtcctgagtgactctgcaaaa	7	11	2	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:47597155G>A	ENST00000526005.1	-	3	839	c.686C>T	c.(685-687)aCa>aTa	p.T229I	KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.T254I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	229	BACK.									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						CTTCAAGCTTGTCCTGAGTGA	0.403																																						ENST00000533290.1																			0				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						c.(760-762)aCa>aTa		kelch repeat and BTB (POZ) domain containing 4							152	145	148					11																	47597155		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47597155G>A	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.686C>T	11.37:g.47597155G>A	ENSP00000433340:p.Thr229Ile					NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|KBTBD4_ENST00000526005.1_Missense_Mutation_p.T229I|KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I	p.T254I			Q9NVX7	KBTB4_HUMAN			2	1475	-			229	A -> G (in Ref. 1; BAA91616).				D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.761C>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367107	0.41902	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720	T;T;T;T;T	0.72615	-0.6;-0.67;-0.6;-0.67;-0.39	5.41	3.51	0.40186	BTB/Kelch-associated (1);	0.345835	0.33916	N	0.004436	T	0.60051	0.2239	L	0.29908	0.895	0.30749	N	0.745365	B;B;B	0.22909	0.062;0.022;0.077	B;B;B	0.19946	0.016;0.016;0.027	T	0.58059	-0.7703	10	0.40728	T	0.16	-10.3484	16.1262	0.81397	0.0:0.2528:0.7472:0.0	.	245;229;254	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	I	229;254;229;238;245;278	ENSP00000433340:T229I;ENSP00000436713:T254I;ENSP00000378703:T229I;ENSP00000415106:T245I;ENSP00000434477:T278I	ENSP00000352971:T238I	T	-	2	0	KBTBD4	47553731	0.997000	0.39634	0.938000	0.37757	0.996000	0.88848	3.958000	0.56737	0.748000	0.32831	0.650000	0.86243	ACA		0.403	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		5	145	0	0	0	1	0	5	145					A	47597155	G	A	47597155	3	1	480	1	0	0	0	0	1	0	0	0	7995	1377	48	2	878	2	KBTBD4	11	47597155	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	20076852	47597155	87409361	30	39080											
OR4P4	81300	broad.mit.edu	37	chr11	55406642	55406642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagaagataaagtgtttgCccttttttataccatcattg	6	8	2	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:55406642C>T	ENST00000314612.2	+	1	809	c.809C>T	c.(808-810)gCc>gTc	p.A270V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	270						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAGTGTTTGCCCTTTTTTAT	0.403																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(808-810)gCc>gTc		olfactory receptor, family 4, subfamily P, member 4							177	146	157					11																	55406642		2180	4030	6210	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406642C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.809C>T	11.37:g.55406642C>T	ENSP00000324831:p.Ala270Val						p.A270V	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	809	+			270						Missense_Mutation	SNP	ENST00000314612.2	37	c.809C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886855	0.33348	.	.	ENSG00000181927	ENST00000314612	T	0.00202	8.56	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001002	T	0.00468	0.0015	M	0.87269	2.87	0.09310	N	1	P	0.35944	0.529	P	0.44696	0.458	T	0.28038	-1.0056	10	0.72032	D	0.01	-8.8415	16.9274	0.86180	0.0:1.0:0.0:0.0	.	270	Q8NGL7	OR4P4_HUMAN	V	270	ENSP00000324831:A270V	ENSP00000324831:A270V	A	+	2	0	OR4P4	55163218	0.000000	0.05858	0.660000	0.29694	0.091000	0.18340	1.227000	0.32576	2.575000	0.86900	0.637000	0.83480	GCC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		18	228	0	0	0	1	0	18	228					T	55406642	C	T	55406642	3	4	480	1	0	0	0	0	1	0	0	0	11080	739	26	2	811	2	OR4P4	11	55406642	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	7809487	55406642	79599874	31	39081											
GIF	2694	broad.mit.edu	37	chr11	59603468	59603468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggttgctgggtagagttgGttgtacctcatgatctgtga	15	5	2	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:59603468G>A	ENST00000257248.2	-	7	933	c.886C>T	c.(886-888)Cca>Tca	p.P296S	GIF_ENST00000541311.1_Missense_Mutation_p.P271S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	296					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)	GGTAGAGTTGGTTGTACCTCA	0.478																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(811-813)Cca>Tca		gastric intrinsic factor (vitamin B synthesis)							131	135	134					11																	59603468		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59603468G>A	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.886C>T	11.37:g.59603468G>A	ENSP00000257248:p.Pro296Ser					GIF_ENST00000257248.2_Missense_Mutation_p.P296S	p.P271S			P27352	IF_HUMAN			7	1045	-			296					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.811C>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	0.431	-0.903211	0.02453	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.38887	1.22;1.11	4.89	1.75	0.24633	.	0.407676	0.23347	N	0.049170	T	0.19604	0.0471	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.24764	-1.0151	10	0.02654	T	1	-11.8286	3.4523	0.07503	0.095:0.1682:0.5634:0.1734	.	296	P27352	IF_HUMAN	S	296;271	ENSP00000257248:P296S;ENSP00000440427:P271S	ENSP00000257248:P296S	P	-	1	0	GIF	59360044	0.903000	0.30736	0.214000	0.23707	0.140000	0.21249	1.182000	0.32029	0.614000	0.30107	0.655000	0.94253	CCA		0.478	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		6	253	0	0	0	1	0	6	253					A	59603468	G	A	59603468	3	1	480	1	0	0	0	0	1	0	0	0	6376	1261	44	2	379	2	GIF	11	59603468	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	4196826	59603468	75403048	32	39082											
SLC3A2	6520	broad.mit.edu	37	chr11	62623842	62623842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagggtctcagcgcggGggacgactcaggtactggat	16	10	2	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:62623842G>A	ENST00000377890.2	+	1	269	c.101G>A	c.(100-102)gGg>gAg	p.G34E	SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SNHG1_ENST00000384706.1_RNA|SLC3A2_ENST00000377892.1_Missense_Mutation_p.G34E|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000363981.1_RNA|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000516331.1_RNA|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000383926.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	34					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCAGCGCGGGGGACGACTCA	0.607																																						ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(100-102)gGg>gAg		solute carrier family 3 (amino acid transporter heavy chain), member 2							64	56	58					11																	62623842		2201	4299	6500	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62623842G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"Solute carriers"	11026	protein-coding gene	gene with protein product	"antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit"	158070	"solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.101G>A	11.37:g.62623842G>A	ENSP00000367122:p.Gly34Glu					SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E	p.G34E			P08195	4F2_HUMAN			1	325	+			34					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.101G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828481	0.50845	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296	D;T;D;D;D	0.99282	-5.68;2.65;-5.11;-5.51;-5.48	4.02	0.892	0.19230	.	19.728200	0.00721	U	0.000883	D	0.97182	0.9079	L	0.29908	0.895	0.09310	N	0.999998	B;B;B;B	0.23540	0.087;0.087;0.053;0.087	B;B;B;B	0.25759	0.029;0.043;0.028;0.063	D	0.95009	0.8150	10	0.20519	T	0.43	-7.5153	6.2214	0.20683	0.1079:0.3792:0.5128:0.0	.	34;34;34;34	P08195-3;F5GZS6;P08195;P08195-4	.;.;4F2_HUMAN;.	E	34	ENSP00000367124:G34E;ENSP00000367123:G34E;ENSP00000367122:G34E;ENSP00000367121:G34E;ENSP00000444236:G34E	ENSP00000367121:G34E	G	+	2	0	SLC3A2	62380418	0.391000	0.25221	0.757000	0.31301	0.377000	0.30045	0.262000	0.18460	0.076000	0.16826	0.313000	0.20887	GGG		0.607	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		5	131	0	0	0	1	0	5	131					A	62623842	G	A	62623842	3	1	480	1	0	0	0	0	1	0	0	0	14627	1232	43	2	103	2	SLC3A2	11	62623842	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	3020374	62623842	72382674	33	39083											
C11orf84	144097	broad.mit.edu	37	chr11	63586445	63586445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaagtggcagaaggagGccttccccgggcggagagcc	18	11	0	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:63586445G>A	ENST00000294244.4	+	5	1204	c.905G>A	c.(904-906)gGc>gAc	p.G302D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	302										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GCAGAAGGAGGCCTTCCCCGG	0.662																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(904-906)gGc>gAc		chromosome 11 open reading frame 84							38	41	40					11																	63586445		2200	4298	6498	SO:0001583	missense	144097							g.chr11:63586445G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.905G>A	11.37:g.63586445G>A	ENSP00000294244:p.Gly302Asp						p.G302D	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			5	1204	+			302					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.905G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944729	0.18356	.	.	ENSG00000168005	ENST00000294244;ENST00000540893	T	0.45276	0.9	4.67	-2.16	0.07080	.	1.312890	0.05175	N	0.500283	T	0.30696	0.0773	L	0.41236	1.265	0.09310	N	1	B	0.27229	0.172	B	0.28849	0.095	T	0.35400	-0.9790	10	0.87932	D	0	-7.0282	0.9865	0.01447	0.1707:0.2753:0.2721:0.2819	.	302	Q9BUA3	CK084_HUMAN	D	302;77	ENSP00000294244:G302D	ENSP00000294244:G302D	G	+	2	0	C11orf84	63343021	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.075000	0.14686	-0.381000	0.07882	-1.303000	0.01326	GGC		0.662	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		4	111	0	0	0	1	0	4	111					A	63586445	G	A	63586445	3	1	480	1	0	0	0	0	1	0	0	0	1667	1203	42	2	923	2	C11orf84	11	63586445	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	962603	63586445	71420071	34	39084											
KDELC2	143888	broad.mit.edu	37	chr11	108352771	108352771	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggagatcatttgtaacaCcccgcatggcttcaagcatg	10	10	2	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:108352771C>G	ENST00000323468.5	-	4	928	c.863G>C	c.(862-864)gGt>gCt	p.G288A	KDELC2_ENST00000434945.2_Missense_Mutation_p.G232A|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	288						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATTTGTAACACCCCGCATGGC	0.438																																						ENST00000434945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(694-696)gGt>gCt		KDEL (Lys-Asp-Glu-Leu) containing 2							117	115	115					11																	108352771		1905	4116	6021	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108352771C>G	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.863G>C	11.37:g.108352771C>G	ENSP00000315386:p.Gly288Ala					KDELC2_ENST00000323468.5_Missense_Mutation_p.G288A|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A	p.G232A			Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	3	997	-		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)	288					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.695G>C	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159776	0.78226	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.20598	2.06;2.06;2.06	5.26	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.57536	1.79	0.80722	D	1	P;P	0.46064	0.872;0.845	P;P	0.51582	0.674;0.458	T	0.00837	-1.1546	10	0.24483	T	0.36	-13.5951	14.3042	0.66375	0.0:0.9275:0.0:0.0725	.	288;232	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	A	288;232;232	ENSP00000315386:G288A;ENSP00000413429:G232A;ENSP00000364799:G232A	ENSP00000315386:G288A	G	-	2	0	KDELC2	107857981	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.615000	0.67702	2.738000	0.93877	0.591000	0.81541	GGT		0.438	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		40	200	0	0	0	1	0	40	200					G	108352771	C	G	108352771	3	3	480	1	0	0	0	0	1	0	0	0	8118	507	18	4	680	4	KDELC2	11	108352771	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	44766326	108352771	26653745	35	39085											
MRPS31	10240	broad.mit.edu	37	chr13	41303682	41303682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgttttggaaagctctcCaggtgtttctccagaaatat	8	9	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr13:41303682C>T	ENST00000323563.6	-	7	1050	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	MIR320D1_ENST00000390157.2_RNA|MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	338						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		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;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GAAAGCTCTCCAGGTGTTTCT	0.363																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1012-1014)ctG>ctA		mitochondrial ribosomal protein S31							51	51	51					13																	41303682		2203	4300	6503	SO:0001819	synonymous_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41303682C>T	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"Mitochondrial ribosomal proteins / small subunits"	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.1014G>A	13.37:g.41303682C>T						MRPS31_ENST00000498078.1_5'UTR	p.L338L	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	7	1050	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	338					B2RCS3|Q5VYC8|Q8WTV8	Silent	SNP	ENST00000323563.6	37	c.1014G>A	CCDS9372.1																																																																																				0.363	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			19	112	0	0	0	1	0	19	112					T	41303682	C	T	41303682	2	4	480	1	0	0	0	0	0	0	0	1	9841	581	21	2		2	MRPS31	13	41303682	Silent	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		41303682	73866196	36	39086											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	4	52	0	0	0	1	0	4	52					T	24424420	C	T	24424420	5	4	480	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		24424420	82925120	37	39087											
KHNYN	23351	broad.mit.edu	37	chr14	24901559	24901559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccctccacctgcaccGgaacccccatggcactgtgg	9	20	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24901559G>A	ENST00000251343.5	+	3	1231	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	KHNYN_ENST00000553935.1_Silent_p.P364P|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000556842.1_Silent_p.P364P|CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	364							RNA binding (GO:0003723)	p.P364P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CACCTGCACCGGAACCCCCAT	0.697											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251343.5																			1	Substitution - coding silent(1)	p.P364P(1)	prostate(1)	kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						c.(1090-1092)ccG>ccA		KH and NYN domain containing							36	40	39					14																	24901559		2203	4298	6501	SO:0001819	synonymous_variant	23351							g.chr14:24901559G>A	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.1092G>A	14.37:g.24901559G>A			OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_ENST00000556842.1_Silent_p.P364P|KHNYN_ENST00000553935.1_Silent_p.P364P	p.P364P			O15037	KHNYN_HUMAN			3	1231	+			364					Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	ENST00000251343.5	37	c.1092G>A	CCDS32058.1																																																																																				0.697	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			15	85	0	0	0	1	0	15	85					A	24901559	G	A	24901559	2	1	480	1	0	0	0	0	0	0	0	1	8150	1103	39	1		1	KHNYN	14	24901559	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	477139	24901559	82447981	38	39088											
MDGA2	161357	broad.mit.edu	37	chr14	47315042	47315042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagcaatgtcaccttcTattccaggacctcggatacc	6	13	3	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:47315042T>C	ENST00000399232.2	-	16	3073	c.2709A>G	c.(2707-2709)atA>atG	p.I903M	MDGA2_ENST00000439988.3_Missense_Mutation_p.I972M|MDGA2_ENST00000426342.1_Missense_Mutation_p.I674M|MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	903	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCACCTTCTATTCCAGGAC	0.363																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(2020-2022)atA>atG		MAM domain containing glycosylphosphatidylinositol anchor 2							114	109	111					14																	47315042		1888	4114	6002	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47315042T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2709A>G	14.37:g.47315042T>C	ENSP00000382178:p.Ile903Met					MDGA2_ENST00000439988.2_Missense_Mutation_p.I903M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M|MDGA2_ENST00000399232.2_Missense_Mutation_p.I972M|MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M	p.I674M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			16	2768	-			903					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2022A>G		.	.	.	.	.	.	.	.	.	.	T	16.20	3.055298	0.55325	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46	5.17	3.99	0.46301	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.56097	U	0.000031	T	0.08179	0.0204	M	0.61703	1.905	0.49798	D	0.999823	D	0.65815	0.995	D	0.72982	0.979	T	0.04307	-1.0961	10	0.59425	D	0.04	.	6.4762	0.22037	0.1464:0.0:0.3033:0.5503	.	903	Q7Z553	MDGA2_HUMAN	M	903;674;972;105;674	ENSP00000400011:I903M;ENSP00000405456:I674M;ENSP00000382178:I972M;ENSP00000382168:I105M;ENSP00000349925:I674M	ENSP00000349925:I674M	I	-	3	3	MDGA2	46384792	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	0.016000	0.13377	0.877000	0.35895	0.260000	0.18958	ATA		0.363	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		19	150	0	0	0	1	0	19	150					C	47315042	T	C	47315042	3	2	480	1	0	0	0	0	1	0	0	0	9407	1512	53	3	169	3	MDGA2	14	47315042	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	22413483	47315042	60034498	39	39089											
JAG2	3714	broad.mit.edu	37	chr14	105609285	105609285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcgcggcggcggcGtgaagttcttgcactggtag	16	13	1	1	rs587770280	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:105609285G>A	ENST00000331782.3	-	26	3867	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1155					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)		cggcggcggcgTGAAGTTCTT	0.721													G|||	7	0.00139776	0.0	0.0	5008	,	,		9918	0.0		0.001	False		,,,				2504	0.0061					ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3463-3465)aCg>aTg		jagged 2							14	16	15					14																	105609285		2175	4254	6429	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609285G>A	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.3464C>T	14.37:g.105609285G>A	ENSP00000328169:p.Thr1155Met					JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	p.T1155M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	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)	26	3867	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1155					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3464C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977285	0.34848	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86297	-2.1;-2.1	4.61	3.58	0.41010	.	0.388897	0.28606	N	0.014742	T	0.74997	0.3790	L	0.28274	0.84	0.29893	N	0.825037	B;B	0.15719	0.014;0.01	B;B	0.11329	0.006;0.003	T	0.65001	-0.6274	10	0.42905	T	0.14	.	3.3903	0.07286	0.3951:0.0:0.6049:0.0	.	1117;1155	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	M	1155;1117	ENSP00000328169:T1155M;ENSP00000328566:T1117M	ENSP00000328169:T1155M	T	-	2	0	JAG2	104680330	0.950000	0.32346	0.978000	0.43139	0.484000	0.33280	1.878000	0.39608	2.111000	0.64477	0.491000	0.48974	ACG		0.721	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			35	39	0	0	0	1	0	35	39					A	105609285	G	A	105609285	3	1	480	1	0	0	0	0	1	0	0	0	7935	1145	40	1	256	1	JAG2	14	105609285	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	58294243	105609285	1740255	40	39090											
HERC2	8924	broad.mit.edu	37	chr15	28375699	28375699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagaaaactgggatccGcattccactttaactactcc	6	13	0	1	rs61756151	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		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)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194					ENST00000261609.7																			0				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						c.(12610-12612)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	185	196	192		12612	-1	1	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375699G>A	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.12612C>T	15.37:g.28375699G>A							p.C4204C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	82	12720	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4204						Silent	SNP	ENST00000261609.7	37	c.12612C>T	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	492	0	0	0	1	0	6	492					A	28375699	G	A	28375699	2	1	480	1	0	0	0	0	0	0	0	1	7058	1079	38	1		1	HERC2	15	28375699	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		28375699	74155693	41	39091											
CACNG3	10368	broad.mit.edu	37	chr16	24372900	24372900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaagaaatctacttttGcccgcctcccaccctacagg	6	16	1	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:24372900G>T	ENST00000005284.3	+	4	1866	c.664G>T	c.(664-666)Gcc>Tcc	p.A222S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	222					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATCTACTTTTGCCCGCCTCCC	0.532																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(664-666)Gcc>Tcc		calcium channel, voltage-dependent, gamma subunit 3							95	90	91					16																	24372900		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372900G>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.664G>T	16.37:g.24372900G>T	ENSP00000005284:p.Ala222Ser						p.A222S	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1866	+			222						Missense_Mutation	SNP	ENST00000005284.3	37	c.664G>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	8.291	0.817786	0.16607	.	.	ENSG00000006116	ENST00000005284	T	0.55052	0.54	4.96	4.0	0.46444	.	0.277274	0.41294	D	0.000913	T	0.21674	0.0522	N	0.03071	-0.42	0.27645	N	0.947592	B	0.06786	0.001	B	0.04013	0.001	T	0.18023	-1.0350	10	0.10377	T	0.69	-12.7289	5.6852	0.17799	0.1665:0.0:0.675:0.1585	.	222	O60359	CCG3_HUMAN	S	222	ENSP00000005284:A222S	ENSP00000005284:A222S	A	+	1	0	CACNG3	24280401	0.286000	0.24305	0.740000	0.30986	0.985000	0.73830	1.263000	0.33004	1.068000	0.40764	0.655000	0.94253	GCC		0.532	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		5	173	1	0	0.000602214	1	0.000618273	5	173					T	24372900	G	T	24372900	3	4	480	1	0	0	0	0	1	0	0	0	2558	1319	46	4	678	4	CACNG3	16	24372900	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		24372900	65981853	42	39092											
NLRC5	84166	broad.mit.edu	37	chr16	57110788	57110788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctttctgaggctctcagGgctgccaccagcctagagga	11	14	2	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:57110788G>A	ENST00000262510.6	+	40	5034	c.4809G>A	c.(4807-4809)agG>agA	p.R1603R	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1603					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)				AGGCTCTCAGGGCTGCCACCA	0.552																																						ENST00000262510.6																			0				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						c.(4807-4809)agG>agA		NLR family, CARD domain containing 5							67	63	64					16																	57110788		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57110788G>A	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.4809G>A	16.37:g.57110788G>A						NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R|NLRC5_ENST00000436936.1_3'UTR	p.R1603R	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			40	5034	+		all_neural(199;0.225)	1603					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.4809G>A	CCDS10773.1																																																																																				0.552	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		46	57	0	0	0	1	0	46	57					A	57110788	G	A	57110788	2	1	480	1	0	0	0	0	0	0	0	1	10470	1223	43	2		2	NLRC5	16	57110788	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	32737888	57110788	33243965	43	39093											
SLC13A5	284111	broad.mit.edu	37	chr17	6599239	6599239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttgctctctagcccGcagccccaggactttttaaa	6	13	2	0	rs148018915		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr17:6599239G>A	ENST00000433363.2	-	7	1094	c.861C>T	c.(859-861)tgC>tgT	p.C287C	SLC13A5_ENST00000381074.4_Silent_p.C244C|SLC13A5_ENST00000293800.6_Silent_p.C270C|SLC13A5_ENST00000573648.1_Silent_p.C287C	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	287					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						TCTCTAGCCCGCAGCCCCAGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.001					ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(859-861)tgC>tgT		solute carrier family 13 (sodium-dependent citrate transporter), member 5		G	,	1,4405	2.1+/-5.4	0,1,2202	75	83	80		861,861	-8.4	0	17	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SLC13A5	NM_001143838.1,NM_177550.3	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	287/523,287/569	6599239	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599239G>A	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.861C>T	17.37:g.6599239G>A						SLC13A5_ENST00000573648.1_Silent_p.C287C|SLC13A5_ENST00000293800.6_Silent_p.C270C|SLC13A5_ENST00000381074.4_Silent_p.C244C	p.C287C	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			7	1094	-			287					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	ENST00000433363.2	37	c.861C>T	CCDS11079.1																																																																																				0.547	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		4	191	0	0	0	1	0	4	191					A	6599239	G	A	6599239	2	1	480	1	0	0	0	0	0	0	0	1	14395	1079	38	1		1	SLC13A5	17	6599239	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		6599239	74595971	44	39094											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	116						7	116	---	---	---	---	-	6531151	GCT	-	6531149	7	5	480	1	0	1	0	1	0	0	0	0	16309	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-TQ-A7RG-01A-11D-A33T-08		6531149	52597834	45	39095											
TSHZ3	57616	broad.mit.edu	37	chr19	31769127	31769127	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtgttttccaaggaTttgaggatatcaagcccccc	9	11	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:31769127T>A	ENST00000240587.4	-	2	1899	c.1572A>T	c.(1570-1572)aaA>aaT	p.K524N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	524					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)					TTTCCAAGGATTTGAGGATAT	0.507																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1570-1572)aaA>aaT		teashirt zinc finger homeobox 3							141	144	143					19																	31769127		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769127T>A	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.1572A>T	19.37:g.31769127T>A	ENSP00000240587:p.Lys524Asn						p.K524N	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1899	-	Esophageal squamous(110;0.226)		524					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1572A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960927	0.53400	.	.	ENSG00000121297	ENST00000240587	T	0.49720	0.77	5.4	-6.06	0.02165	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.73598	2.24	0.58432	D	0.999999	P	0.41313	0.745	B	0.37346	0.247	T	0.57323	-0.7831	10	0.87932	D	0	-22.0351	19.0963	0.93253	0.0:0.7527:0.0:0.2473	.	524	Q63HK5	TSH3_HUMAN	N	524	ENSP00000240587:K524N	ENSP00000240587:K524N	K	-	3	2	TSHZ3	36460967	0.982000	0.34865	0.184000	0.23157	0.849000	0.48306	0.260000	0.18424	-1.420000	0.02009	-0.912000	0.02778	AAA		0.507	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		75	153	0	0	0	1	0	75	153					A	31769127	T	A	31769127	3	1	480	1	0	0	0	0	1	0	0	0	16622	1490	52	5	1677	5	TSHZ3	19	31769127	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	25237978	31769127	27359856	46	39096											
CCDC8	83987	broad.mit.edu	37	chr19	46915066	46915066	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgAttatctgcagcctctgcccc	6	18	5	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:46915066A>G	ENST00000307522.3	-	1	1775	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	334					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGATTATCTGCAG	0.597																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1000-1002)aaT>aaC		coiled-coil domain containing 8							94	100	98					19																	46915066		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915066A>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1002T>C	19.37:g.46915066A>G							p.N334N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1775	-			334					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1002T>C	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	A	5.110	0.205958	0.09704	.	.	ENSG00000169515	ENST00000540252	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.21147	N	0.999776	.	.	.	.	.	.	T	0.28004	-1.0057	5	0.22706	T	0.39	-0.1737	6.133	0.20215	0.5746:0.0:0.2521:0.1734	.	.	.	.	T	181	.	ENSP00000441180:I181T	I	-	2	0	CCDC8	51606906	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.996000	0.01471	-1.077000	0.03121	-2.151000	0.00333	ATC		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		5	242	0	0	0	1	0	5	242					G	46915066	A	G	46915066	2	3	480	1	0	0	0	0	0	0	0	1	2853	330	12	3		3	CCDC8	19	46915066	Silent	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08	15145939	46915066	12213917	47	39097											
PHF20	51230	broad.mit.edu	37	chr20	34487400	34487400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgtttaaaatttttccGcaaagccaaactgttgcact	7	9	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:34487400G>A	ENST00000374012.3	+	10	1520	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	464					chromatin organization (GO:0006325)|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)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAATTTTTCCGCAAAGCCAAA	0.428																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1390-1392)cGc>cAc		PHD finger protein 20							65	63	63					20																	34487400		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34487400G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1391G>A	20.37:g.34487400G>A	ENSP00000363124:p.Arg464His					PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR	p.R464H			Q9BVI0	PHF20_HUMAN			10	1520	+	Breast(12;0.00631)|all_lung(11;0.0145)		464					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1391G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366190	0.82463	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.65732	0.62;-0.17;-0.17	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.797	T	0.79117	-0.1935	10	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	464;464	Q9BVI0;Q66K49	PHF20_HUMAN;.	H	464	ENSP00000363124:R464H;ENSP00000341900:R464H;ENSP00000363112:R464H	ENSP00000341900:R464H	R	+	2	0	PHF20	33950814	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.229000	0.95273	2.818000	0.97014	0.591000	0.81541	CGC		0.428	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		4	120	0	0	0	1	0	4	120					A	34487400	G	A	34487400	3	1	480	1	0	0	0	0	1	0	0	0	11831	1087	38	1	1425	1	PHF20	20	34487400	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		34487400	28538120	48	39098											
CHD6	84181	broad.mit.edu	37	chr20	40049627	40049627	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctctggcctttcccccatgCctactgccatggctaagttt	7	16	1	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:40049627C>G	ENST00000373233.3	-	31	5825	c.5648G>C	c.(5647-5649)gGc>gCc	p.G1883A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1883					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)				TTCCCCCATGCCTACTGCCAT	0.453																																						ENST00000373233.3																			0				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						c.(5647-5649)gGc>gCc		chromodomain helicase DNA binding protein 6							121	123	122					20																	40049627		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049627C>G	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.5648G>C	20.37:g.40049627C>G	ENSP00000362330:p.Gly1883Ala						p.G1883A	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5825	-		Myeloproliferative disorder(115;0.00425)	1883					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5648G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143817	0.06627	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.86	2.13	0.27403	.	0.696895	0.13607	N	0.375412	T	0.69450	0.3112	N	0.19112	0.55	0.09310	N	1	B	0.20368	0.044	B	0.13407	0.009	T	0.51593	-0.8686	10	0.08599	T	0.76	-2.4067	7.5723	0.27915	0.0:0.5971:0.0:0.4029	.	1883	Q8TD26	CHD6_HUMAN	A	1883	ENSP00000362330:G1883A	ENSP00000362330:G1883A	G	-	2	0	CHD6	39483041	0.679000	0.27596	0.010000	0.14722	0.300000	0.27592	1.105000	0.31086	0.703000	0.31848	0.655000	0.94253	GGC		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			21	156	0	0	0	1	0	21	156					G	40049627	C	G	40049627	3	3	480	1	0	0	0	0	1	0	0	0	3329	739	26	4	2527	4	CHD6	20	40049627	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	5562227	40049627	22975893	49	39099											
ZFP64	55734	broad.mit.edu	37	chr20	50769656	50769656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatacgctcgtggatgcGcagggcggccttgctggagc	18	10	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:50769656G>A	ENST00000216923.4	-	6	1424	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	359					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGTGGATGCGCAGGGCGGCC	0.597																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1075-1077)Cgc>Tgc		ZFP64 zinc finger protein							112	103	106					20																	50769656		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769656G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1075C>T	20.37:g.50769656G>A	ENSP00000216923:p.Arg359Cys					ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C	p.R359C	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1424	-			359					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1075C>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850628	0.51270	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.08896	3.04;3.07;3.04	5.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120446	0.34245	N	0.004129	T	0.27559	0.0677	M	0.85197	2.74	0.39996	D	0.975108	D;D;D	0.89917	1.0;0.997;0.998	P;P;P	0.62184	0.899;0.642;0.714	T	0.01436	-1.1355	10	0.54805	T	0.06	-36.4935	11.4592	0.50199	0.0:0.0:0.6103:0.3897	.	305;357;359	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	C	359;305;357;201;512	ENSP00000216923:R359C;ENSP00000344615:R305C;ENSP00000360570:R357C	ENSP00000216923:R359C	R	-	1	0	ZFP64	50203063	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	3.978000	0.56881	2.740000	0.93945	0.609000	0.83330	CGC		0.597	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		4	215	0	0	0	1	0	4	215					A	50769656	G	A	50769656	3	1	480	1	0	0	0	0	1	0	0	0	17649	1087	38	1	2165	1	ZFP64	20	50769656	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	10720029	50769656	12255864	50	39100											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688804	30688804	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaatgaggtgttcgcGctcaatctggcgctctgtca	12	11	4	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:30688804G>C	ENST00000215790.7	-	9	1251	c.1087C>G	c.(1087-1089)Cgc>Ggc	p.R363G	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.R363S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTGTTCGCGCTCAATCTGG	0.637																																						ENST00000215790.7																			1	Substitution - Missense(1)	p.R363S(1)	lung(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1087-1089)Cgc>Ggc		TBC1 domain family, member 10A							33	33	33					22																	30688804		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688804G>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1087C>G	22.37:g.30688804G>C	ENSP00000215790:p.Arg363Gly					RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G	p.R363G	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1251	-			363					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1087C>G	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407523	0.62399	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	T;T;T;T	0.08896	3.04;3.32;3.32;3.34	4.85	4.85	0.62838	.	0.108688	0.56097	D	0.000033	T	0.18759	0.0450	M	0.67397	2.05	0.45962	D	0.998789	P;P;P;P	0.48162	0.906;0.906;0.906;0.903	P;P;P;P	0.52343	0.621;0.52;0.621;0.696	T	0.00063	-1.2153	10	0.49607	T	0.09	.	12.937	0.58320	0.0:0.0:0.8373:0.1627	.	363;370;363;363	Q20WK7;B3KXT8;Q9BXI6;A7E244	.;.;TB10A_HUMAN;.	G	237;363;370;275	ENSP00000401535:R237G;ENSP00000215790:R363G;ENSP00000384996:R370G;ENSP00000385050:R275G	ENSP00000331267:R224G	R	-	1	0	TBC1D10A;RP1-130H16.18	29018804	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.760000	0.55235	2.700000	0.92200	0.462000	0.41574	CGC		0.637	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		37	55	0	0	0	1	0	37	55					C	30688804	G	C	30688804	3	2	480	1	0	0	0	0	1	0	0	0	15595	1087	38	4	443	4	TBC1D10A	22	30688804	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		30688804	20615762	51	39101											
PARVG	64098	broad.mit.edu	37	chr22	44583736	44583736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggacatgttcgacggGctcatcctacaccacctatt	10	12	1	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:44583736G>A	ENST00000444313.3	+	5	709	c.225G>A	c.(223-225)ggG>ggA	p.G75G	PARVG_ENST00000422871.1_Silent_p.G75G|PARVG_ENST00000415224.1_Silent_p.G75G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	75	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGTTCGACGGGCTCATCCTAC	0.627																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(223-225)ggG>ggA		parvin, gamma							170	125	141					22																	44583736		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44583736G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.225G>A	22.37:g.44583736G>A						PARVG_ENST00000444313.2_Silent_p.G75G|PARVG_ENST00000415224.1_Silent_p.G75G	p.G75G	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			5	649	+		Ovarian(80;0.024)|all_neural(38;0.0299)	75			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.225G>A	CCDS14057.1																																																																																				0.627	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		8	102	0	0	0	1	0	8	102					A	44583736	G	A	44583736	2	1	480	1	0	0	0	0	0	0	0	1	11470	1190	42	2		2	PARVG	22	44583736	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	13894932	44583736	6720830	52	39102											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988099	50988099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccgcttcgacctgctgCggggcgtgggcgccgccgtg	17	14	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:50988099C>T	ENST00000395676.2	+	1	1638	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	502										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)		CGACCTGCTGCGGGGCGTGGG	0.697																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1504-1506)Cgg>Tgg		kelch domain containing 7B							36	41	40					22																	50988099		2201	4288	6489	SO:0001583	missense	113730							g.chr22:50988099C>T	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.1504C>T	22.37:g.50988099C>T	ENSP00000379034:p.Arg502Trp						p.R502W	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		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)	1	1638	+		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)	502						Missense_Mutation	SNP	ENST00000395676.2	37	c.1504C>T	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648450	0.67358	.	.	ENSG00000130487	ENST00000395676	T	0.18502	2.21	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.39615	U	0.001302	T	0.41926	0.1180	M	0.72894	2.215	0.47476	D	0.999432	D	0.89917	1.0	D	0.71414	0.973	T	0.27571	-1.0070	10	0.72032	D	0.01	.	16.5472	0.84450	0.0:1.0:0.0:0.0	.	502	Q96G42	KLD7B_HUMAN	W	502	ENSP00000379034:R502W	ENSP00000379034:R502W	R	+	1	2	KLHDC7B	49334965	0.998000	0.40836	0.998000	0.56505	0.069000	0.16628	0.590000	0.23954	2.528000	0.85240	0.491000	0.48974	CGG		0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		14	151	0	0	0	1	0	14	151					T	50988099	C	T	50988099	3	4	480	1	0	0	0	0	1	0	0	0	8361	759	27	1	1506	1	KLHDC7B	22	50988099	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	6404363	50988099	316467	53	39103											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	231						7	231	---	---	---	---	-	149937528	GGC	-	149937526	7	5	480	1	0	1	0	1	0	0	0	0	3051	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-TQ-A7RG-01A-11D-A33T-08		149937526	5333034	54	39104											
L1CAM	3897	broad.mit.edu	37	chrX	153130847	153130847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaggagctatagggccGcaagccactgaggatgacac	15	9	0	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3. {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)	p.R886W(1)		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)					CTATAGGGCCGCAAGCCACTG	0.612																																						ENST00000370060.1																			1	Substitution - Missense(1)	p.R886W(1)	lung(1)	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						c.(2656-2658)Cgg>Tgg		L1 cell adhesion molecule							141	114	123					X																	153130847		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130847G>A	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.2656C>T	X.37:g.153130847G>A	ENSP00000359077:p.Arg886Trp					L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W	p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			21	2845	-	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)		886			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2656C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695980	0.30052	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.33	1.51	0.23008	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290733	0.23770	N	0.044730	T	0.49575	0.1565	M	0.68952	2.095	0.39443	D	0.967286	B;B;B	0.26195	0.065;0.144;0.048	B;B;B	0.25405	0.025;0.06;0.043	T	0.43491	-0.9388	10	0.54805	T	0.06	.	5.1621	0.15066	0.1693:0.0:0.2808:0.5499	.	881;886;886	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	886;888;886;888;881;881;886	ENSP00000359077:R886W;ENSP00000438430:R888W;ENSP00000359074:R886W;ENSP00000439645:R888W;ENSP00000354712:R881W;ENSP00000359072:R881W;ENSP00000355380:R886W	ENSP00000355380:R886W	R	-	1	2	L1CAM	152784041	0.135000	0.22499	0.333000	0.25482	0.410000	0.31052	1.255000	0.32909	0.105000	0.17753	0.529000	0.55759	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		4	152	0	0	0	1	0	4	152					A	153130847	G	A	153130847	3	1	480	1	0	0	0	0	1	0	0	0	8588	1086	38	1	1153	1	L1CAM	23	153130847	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	3193321	153130847	2139713	55	39105											
APOB	338	broad.mit.edu	37	chr2	21236129	21236129	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgttgccaccactGtaggaggcggaccagttgta	15	9	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:21236129G>T	ENST00000233242.1	-	25	4246	c.4119C>A	c.(4117-4119)taC>taA	p.Y1373*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					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)					TGCCACCACTGTAGGAGGCGG	0.512																																						ENST00000233242.1																			0				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						c.(4117-4119)taC>taA		apolipoprotein B	Atorvastatin(DB01076)						202	185	191					2																	21236129		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236129G>T	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.4119C>A	2.37:g.21236129G>T	ENSP00000233242:p.Tyr1373*						p.Y1373*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			25	4246	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1373					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.4119C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	43	10.411894	0.99400	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.38	1.46	0.22682	.	0.112680	0.40064	N	0.001188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3088	0.37891	0.3015:0.0:0.6985:0.0	.	.	.	.	X	1373	.	ENSP00000233242:Y1373X	Y	-	3	2	APOB	21089634	0.798000	0.28890	0.930000	0.37139	0.962000	0.63368	0.443000	0.21644	0.321000	0.23259	0.557000	0.71058	TAC		0.512	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	214	1	0	0.0135373	1	0.0143	10	214					T	21236129	G	T	21236129	4	4	481	1	0	0	0	0	0	1	0	0	785	1372	48	4	9592	4	APOB	2	21236129	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		21236129	221963244	1	39106											
SEMA4F	10505	broad.mit.edu	37	chr2	74901641	74901641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggggacctcgggggccGgaagaccctccagcagagat	16	13	0	2	rs563916347		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:74901641G>A	ENST00000357877.2	+	8	988	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	280	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						CTCGGGGGCCGGAAGACCCTC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18878	0.0		0.0	False		,,,				2504	0.001					ENST00000357877.2																			0				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						c.(838-840)cGg>cAg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							52	56	55					2																	74901641		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74901641G>A	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.839G>A	2.37:g.74901641G>A	ENSP00000350547:p.Arg280Gln					SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q	p.R280Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			8	988	+			280			Sema.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.839G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775487	0.16051	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000453930	T;T;T	0.10763	2.84;2.84;2.84	5.33	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.155761	0.41500	D	0.000879	T	0.02807	0.0084	N	0.01874	-0.695	0.33237	D	0.556658	B;B	0.16396	0.007;0.017	B;B	0.14578	0.011;0.007	T	0.34875	-0.9811	10	0.02654	T	1	.	5.4761	0.16695	0.1029:0.0:0.6516:0.2455	.	125;280	O95754-2;O95754	.;SEM4F_HUMAN	Q	280;125;125	ENSP00000350547:R280Q;ENSP00000342675:R125Q;ENSP00000409141:R125Q	ENSP00000342675:R125Q	R	+	2	0	SEMA4F	74755149	0.006000	0.16342	1.000000	0.80357	0.120000	0.20174	0.276000	0.18716	2.504000	0.84457	0.289000	0.19496	CGG		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		20	43	0	0	0	1	0	20	43					A	74901641	G	A	74901641	3	1	481	1	0	0	0	0	1	0	0	0	14035	1116	39	1	869	1	SEMA4F	2	74901641	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	53665512	74901641	168297732	2	39107											
SLC39A10	57181	broad.mit.edu	37	chr2	196582986	196582986	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttcctcaggtgcagctttCagtgctggattgacaggagg	13	9	3	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:196582986C>T	ENST00000409086.3	+	8	2351	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	SLC39A10_ENST00000541054.1_Silent_p.F242F|SLC39A10_ENST00000359634.5_Silent_p.F692F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	692					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTGCAGCTTTCAGTGCTGGAT	0.363																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(2074-2076)ttC>ttT		solute carrier family 39 (zinc transporter), member 10							125	122	123					2																	196582986		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196582986C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2076C>T	2.37:g.196582986C>T						SLC39A10_ENST00000541054.1_Silent_p.F242F|SLC39A10_ENST00000359634.5_Silent_p.F692F	p.F692F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		8	2351	+			692					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.2076C>T	CCDS33353.1																																																																																				0.363	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		24	73	0	0	0	1	0	24	73					T	196582986	C	T	196582986	2	4	481	1	0	0	0	0	0	0	0	1	14613	825	29	2		2	SLC39A10	2	196582986	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	121681345	196582986	46616387	3	39108											
STRADB	55437	broad.mit.edu	37	chr2	202323545	202323545	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaacacaagttgaatcactCagacctgaaaaacagtctga	7	9	3	5			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:202323545C>A	ENST00000194530.3	+	3	416	c.51C>A	c.(49-51)ctC>ctA	p.L17L	STRADB_ENST00000488196.1_3'UTR|STRADB_ENST00000392249.2_Silent_p.L17L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	17					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						TTGAATCACTCAGACCTGAAA	0.408																																						ENST00000194530.3																			0				breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						c.(49-51)ctC>ctA		STE20-related kinase adaptor beta							94	86	89					2																	202323545		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202323545C>A	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.51C>A	2.37:g.202323545C>A						STRADB_ENST00000392249.2_Silent_p.L17L|STRADB_ENST00000488196.1_3'UTR	p.L17L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN			3	416	+			17					Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.51C>A	CCDS2348.1																																																																																				0.408	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		13	201	1	0	5.50884e-06	1	6.26004e-06	13	201					A	202323545	C	A	202323545	2	1	481	1	0	0	0	0	0	0	0	1	15324	813	29	4		4	STRADB	2	202323545	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	5740559	202323545	40875828	4	39109											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			44	58	0	0	0	1	0	44	58					T	209113112	C	T	209113112	3	4	481	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	6789567	209113112	34086261	5	39110											
CCR8	1237	broad.mit.edu	37	chr3	39373836	39373836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgatggattatacacTtgacctcagtgtgacaacag	9	9	1	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:39373836T>C	ENST00000326306.4	+	2	152	c.14T>C	c.(13-15)cTt>cCt	p.L5P	CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Missense_Mutation_p.L5P	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	5					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)		GATTATACACTTGACCTCAGT	0.413																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(13-15)cTt>cCt		chemokine (C-C motif) receptor 8							126	116	119					3																	39373836		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39373836T>C	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.14T>C	3.37:g.39373836T>C	ENSP00000326432:p.Leu5Pro					CCR8_ENST00000414803.1_Missense_Mutation_p.L5P|CCR8_ENST00000545843.1_5'UTR	p.L5P	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	152	+			5					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.14T>C	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101514	0.37048	.	.	ENSG00000179934	ENST00000326306;ENST00000414803	T;T	0.28255	1.62;1.62	5.24	-3.89	0.04193	.	1.897890	0.02662	N	0.107581	T	0.17534	0.0421	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23119	-1.0197	10	0.25106	T	0.35	.	13.1796	0.59647	0.0:0.6495:0.0:0.3505	.	5	P51685	CCR8_HUMAN	P	5	ENSP00000326432:L5P;ENSP00000390104:L5P	ENSP00000326432:L5P	L	+	2	0	CCR8	39348840	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.873000	0.04214	-0.488000	0.06726	0.260000	0.18958	CTT		0.413	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		43	58	0	0	0	1	0	43	58					C	39373836	T	C	39373836	3	2	481	1	0	0	0	0	1	0	0	0	2947	1609	56	3	16	3	CCR8	3	39373836	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08		39373836	158648594	6	39111											
IP6K2	51447	broad.mit.edu	37	chr3	48725944	48725944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctccaaatcctcagcaTctgagtccaggaccacttcg	8	15	2	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:48725944T>C	ENST00000328631.5	-	6	1266	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	348					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						ATCCTCAGCATCTGAGTCCAG	0.557																																						ENST00000328631.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(1042-1044)gAt>gGt		inositol hexakisphosphate kinase 2							83	79	81					3																	48725944		2203	4300	6503	SO:0001583	missense	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48725944T>C	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.1043A>G	3.37:g.48725944T>C	ENSP00000331103:p.Asp348Gly						p.D348G	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN			6	1266	-			348					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.1043A>G	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728834	0.30593	.	.	ENSG00000068745	ENST00000328631	T	0.19806	2.12	5.61	5.61	0.85477	.	0.099404	0.64402	D	0.000002	T	0.23094	0.0558	L	0.47716	1.5	0.80722	D	1	B	0.28820	0.224	B	0.34536	0.185	T	0.04153	-1.0973	10	0.18710	T	0.47	-19.05	15.8096	0.78547	0.0:0.0:0.0:1.0	.	348	Q9UHH9	IP6K2_HUMAN	G	348	ENSP00000331103:D348G	ENSP00000331103:D348G	D	-	2	0	IP6K2	48700948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.962000	0.56766	2.132000	0.65825	0.533000	0.62120	GAT		0.557	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		13	33	0	0	0	1	0	13	33					C	48725944	T	C	48725944	3	2	481	1	0	0	0	0	1	0	0	0	7789	1435	50	3	241	3	IP6K2	3	48725944	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	9352108	48725944	149296486	7	39112											
OR5K1	26339	broad.mit.edu	37	chr3	98188566	98188566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattagtttggtggcactgaTatttacacaccgtcggcttc	9	9	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:98188566T>C	ENST00000332650.5	+	1	243	c.146T>C	c.(145-147)aTa>aCa	p.I49T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	49						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(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCACTGATATTTACACAC	0.458																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(145-147)aTa>aCa		olfactory receptor, family 5, subfamily K, member 1							254	250	251					3																	98188566		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188566T>C	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.146T>C	3.37:g.98188566T>C	ENSP00000373193:p.Ile49Thr						p.I49T	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	243	+			49					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.146T>C	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527135	0.64860	.	.	ENSG00000232382	ENST00000332650	T	0.08458	3.09	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000535	T	0.23649	0.0572	L	0.53617	1.68	0.26851	N	0.968163	D	0.89917	1.0	D	0.91635	0.999	T	0.02269	-1.1185	10	0.66056	D	0.02	-18.4959	12.9721	0.58517	0.0:0.0:0.0:1.0	.	49	Q8NHB7	OR5K1_HUMAN	T	49	ENSP00000373193:I49T	ENSP00000373193:I49T	I	+	2	0	OR5K1	99671256	0.993000	0.37304	0.026000	0.17262	0.005000	0.04900	3.875000	0.56108	1.953000	0.56701	0.460000	0.39030	ATA		0.458	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			21	295	0	0	0	1	0	21	295					C	98188566	T	C	98188566	3	2	481	1	0	0	0	0	1	0	0	0	11166	1406	49	3	148	3	OR5K1	3	98188566	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	49462622	98188566	99833864	8	39113											
CLSTN2	64084	broad.mit.edu	37	chr3	140281990	140281990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgattgtgcagcctccCttcctccagtctgtccatca	6	16	3	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:140281990C>T	ENST00000458420.3	+	15	2617	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	809					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						TGCAGCCTCCCTTCCTCCAGT	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				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						c.(2425-2427)ccC>ccT		calsyntenin 2							164	141	149					3																	140281990		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281990C>T	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.2427C>T	3.37:g.140281990C>T		HNSCC(16;0.037)					p.P809P	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			15	2617	+			809					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2427C>T	CCDS3112.1																																																																																				0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		9	104	0	0	0	1	0	9	104					T	140281990	C	T	140281990	2	4	481	1	0	0	0	0	0	0	0	1	3562	668	24	2		2	CLSTN2	3	140281990	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	42093424	140281990	57740440	9	39114											
ZNF518B	85460	broad.mit.edu	37	chr4	10445137	10445137	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacaatgactggctggttcCgacggggacacttaatcaac	10	11	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:10445137C>G	ENST00000326756.3	-	3	3254	c.2816G>C	c.(2815-2817)cGg>cCg	p.R939P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	939					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(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGCTGGTTCCGACGGGGACA	0.448																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2815-2817)cGg>cCg		zinc finger protein 518B							114	108	110					4																	10445137		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445137C>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2816G>C	4.37:g.10445137C>G	ENSP00000317614:p.Arg939Pro						p.R939P	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3254	-			939					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2816G>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108735	0.77096	.	.	ENSG00000178163	ENST00000326756	T	0.02498	4.27	6.16	6.16	0.99307	.	0.283977	0.33553	N	0.004800	T	0.11067	0.0270	L	0.48642	1.525	0.40593	D	0.981501	D	0.76494	0.999	D	0.78314	0.991	T	0.00171	-1.1959	10	0.87932	D	0	-11.4667	14.658	0.68847	0.1451:0.8549:0.0:0.0	.	939	Q9C0D4	Z518B_HUMAN	P	939	ENSP00000317614:R939P	ENSP00000317614:R939P	R	-	2	0	ZNF518B	10054235	0.866000	0.29940	0.999000	0.59377	0.987000	0.75469	1.530000	0.36007	2.937000	0.99478	0.650000	0.86243	CGG		0.448	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		7	174	0	0	0	1	0	7	174					G	10445137	C	G	10445137	3	3	481	1	0	0	0	0	1	0	0	0	17960	652	23	4	412	4	ZNF518B	4	10445137	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		10445137	180709139	10	39115											
SEL1L3	23231	broad.mit.edu	37	chr4	25836841	25836841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaatccatcctctggcGtcgagtggcctccagctctc	11	14	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:25836841G>A	ENST00000399878.3	-	3	960	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	280						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCCTCTGGCGTCGAGTGGCC	0.537																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(838-840)Cgc>Tgc		sel-1 suppressor of lin-12-like 3 (C. elegans)							125	126	126					4																	25836841		1970	4148	6118	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25836841G>A	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.838C>T	4.37:g.25836841G>A	ENSP00000382767:p.Arg280Cys					SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000513364.1_5'UTR	p.R280C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			3	960	-			280					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.838C>T	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596962	0.46318	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.18338	2.22;2.22;2.22	6.02	1.32	0.21799	.	0.782834	0.13011	N	0.420833	T	0.12433	0.0302	L	0.47716	1.5	0.35223	D	0.776173	B	0.16166	0.016	B	0.06405	0.002	T	0.20773	-1.0265	10	0.62326	D	0.03	-0.3889	0.7311	0.00957	0.2128:0.1638:0.3583:0.2651	.	280	Q68CR1	SE1L3_HUMAN	C	280;245;127	ENSP00000382767:R280C;ENSP00000264868:R245C;ENSP00000425438:R127C	ENSP00000264868:R245C	R	-	1	0	SEL1L3	25445939	0.991000	0.36638	0.968000	0.41197	0.949000	0.60115	0.419000	0.21247	-0.096000	0.12329	0.655000	0.94253	CGC		0.537	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		15	224	0	0	0	1	0	15	224					A	25836841	G	A	25836841	3	1	481	1	0	0	0	0	1	0	0	0	14012	1145	40	1	2648	1	SEL1L3	4	25836841	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	15391704	25836841	165317435	11	39116											
RIPK1	8737	broad.mit.edu	37	chr6	3083466	3083466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctgaatgacgtcaacGcaaagcccacagagaagtcg	10	12	1	3	rs149432620	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:3083466G>A	ENST00000259808.4	+	5	905	c.607G>A	c.(607-609)Gca>Aca	p.A203T	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T|RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	203	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)|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)				TGACGTCAACGCAAAGCCCAC	0.488																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(607-609)Gca>Aca		receptor (TNFRSF)-interacting serine-threonine kinase 1							117	100	106					6																	3083466		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3083466G>A	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.607G>A	6.37:g.3083466G>A	ENSP00000259808:p.Ala203Thr					RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T|RIPK1_ENST00000479389.1_3'UTR	p.A203T			Q13546	RIPK1_HUMAN			5	905	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	203			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.607G>A	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	3.669	-0.067900	0.07228	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.61859	0.07;0.07;0.07	5.65	2.82	0.32997	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.412797	0.30830	N	0.008783	T	0.15955	0.0384	N	0.21583	0.68	0.34443	D	0.699796	B;B	0.31817	0.341;0.165	B;B	0.25506	0.024;0.061	T	0.05500	-1.0881	10	0.14252	T	0.57	-5.9342	6.6383	0.22895	0.2006:0.0:0.6631:0.1363	.	157;203	Q13546-2;Q13546	.;RIPK1_HUMAN	T	203;157;203	ENSP00000259808:A203T;ENSP00000442294:A157T;ENSP00000369773:A203T	ENSP00000259808:A203T	A	+	1	0	RIPK1	3028465	0.000000	0.05858	0.035000	0.18076	0.199000	0.23934	0.443000	0.21644	0.678000	0.31325	0.563000	0.77884	GCA		0.488	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		4	88	0	0	0	1	0	4	88					A	3083466	G	A	3083466	3	1	481	1	0	0	0	0	1	0	0	0	13380	1087	38	1	621	1	RIPK1	6	3083466	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		3083466	168031601	12	39117											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184184	26184184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtccaccccgacaccgGcatctcctctaaagccatgg	8	17	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:26184184G>A	ENST00000356530.3	+	1	227	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CCCGACACCGGCATCTCCTCT	0.577																																						ENST00000356530.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(160-162)gGc>gAc		histone cluster 1, H2be							167	155	159					6																	26184184		2203	4300	6503	SO:0001583	missense	8344				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26184184G>A	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.161G>A	6.37:g.26184184G>A	ENSP00000348924:p.Gly54Asp						p.G54D	NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN			1	227	+			54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000356530.3	37	c.161G>A	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.873960	0.51695	.	.	ENSG00000197697	ENST00000356530	T	0.69435	-0.4	4.96	4.96	0.65561	.	0.000000	0.34700	U	0.003742	T	0.73442	0.3587	.	.	.	0.47153	D	0.999335	.	.	.	.	.	.	T	0.77498	-0.2565	7	0.87932	D	0	.	14.8694	0.70444	0.0:0.1441:0.8559:0.0	.	.	.	.	D	54	ENSP00000348924:G54D	ENSP00000348924:G54D	G	+	2	0	HIST1H2BE	26292163	1.000000	0.71417	0.888000	0.34837	0.004000	0.04260	5.400000	0.66320	2.479000	0.83701	0.537000	0.68136	GGC		0.577	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523		5	288	0	0	0	1	0	5	288					A	26184184	G	A	26184184	3	1	481	1	0	0	0	0	1	0	0	0	7144	1203	42	2	163	2	HIST1H2BE	6	26184184	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	23100718	26184184	144930883	13	39118											
DST	667	broad.mit.edu	37	chr6	56418203	56418203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgccttctcagacccTtgtgtttttaataacagatt	7	9	1	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:56418203T>A	ENST00000361203.3	-	57	14761	c.14754A>T	c.(14752-14754)caA>caT	p.Q4918H	DST_ENST00000244364.6_Missense_Mutation_p.Q2506H|DST_ENST00000370754.5_Missense_Mutation_p.Q5098H|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H			Q03001	DYST_HUMAN	dystonin	4918					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)			TCTCAGACCCTTGTGTTTTTA	0.318																																						ENST00000370754.5																			0				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						c.(15292-15294)caA>caT		dystonin							112	106	108					6																	56418203		1819	4085	5904	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56418203T>A	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.14754A>T	6.37:g.56418203T>A	ENSP00000354508:p.Gln4918His					DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q4918H|DST_ENST00000244364.6_Missense_Mutation_p.Q2506H|DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H	p.Q5098H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	15293	-	Lung NSC(77;0.103)		4918					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	ENST00000361203.3	37	c.15294A>T		.	.	.	.	.	.	.	.	.	.	T	12.47	1.948490	0.34377	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.61	1.85	0.25348	.	0.000000	0.50627	D	0.000105	T	0.28200	0.0696	L	0.52364	1.645	0.27651	N	0.947392	D;D;D;D;B	0.71674	0.991;0.998;0.998;0.975;0.054	P;D;D;P;B	0.72982	0.873;0.979;0.979;0.832;0.052	T	0.06935	-1.0799	9	0.30078	T	0.28	.	9.1642	0.37041	0.0:0.2126:0.0:0.7874	.	2832;4920;5098;4918;2506	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	2506;5098;4920;2832;4594;2832;4918	ENSP00000244364:Q2506H;ENSP00000359790:Q5098H;ENSP00000359805:Q4920H;ENSP00000400883:Q2832H;ENSP00000393645:Q4594H;ENSP00000359824:Q2832H;ENSP00000354508:Q4918H	ENSP00000244364:Q2506H	Q	-	3	2	DST	56526162	0.996000	0.38824	0.994000	0.49952	0.975000	0.68041	0.531000	0.23052	0.144000	0.18951	0.533000	0.62120	CAA		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	98	0	0	0	1	0	4	98					A	56418203	T	A	56418203	3	1	481	1	0	0	0	0	1	0	0	0	4783	1606	56	5	8169	5	DST	6	56418203	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	30234019	56418203	114696864	14	39119											
LAMA2	3908	broad.mit.edu	37	chr6	129419488	129419488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccccgcactgggccaccGtcatatgccaaagatgatga	9	13	1	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:129419488G>A	ENST00000421865.2	+	4	616	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	189	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)		CTGGGCCACCGTCATATGCCA	0.448																																						ENST00000421865.2																			0				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						c.(565-567)ccG>ccA		laminin, alpha 2							82	78	79					6																	129419488		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419488G>A	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.567G>A	6.37:g.129419488G>A							p.P189P	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	616	+			189			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.567G>A	CCDS5138.1																																																																																				0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			29	53	0	0	0	1	0	29	53					A	129419488	G	A	129419488	2	1	481	1	0	0	0	0	0	0	0	1	8606	1132	40	1		1	LAMA2	6	129419488	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	73001285	129419488	41695579	15	39120											
HOXA11	3207	broad.mit.edu	37	chr7	27222531	27222531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgaggttgagcatgcGggacagttgcaggcgcttct	15	8	2	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:27222531G>A	ENST00000006015.3	-	2	897	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA10_ENST00000396344.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	276					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.R276S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTGAGCATGCGGGACAGTTGC	0.458			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		1	Substitution - Missense(1)	p.R276S(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(826-828)Cgc>Tgc		homeobox A11							88	93	91					7																	27222531		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222531G>A		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"Homeoboxes / ANTP class : HOXL subclass"	5101	protein-coding gene	gene with protein product		142958	"homeo box A11"	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.826C>T	7.37:g.27222531G>A	ENSP00000006015:p.Arg276Cys						p.R276C	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	897	-			276					A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.826C>T	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419346	0.83559	.	.	ENSG00000005073	ENST00000006015	D	0.96396	-4.0	5.91	5.91	0.95273	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.072066	0.56097	D	0.000021	D	0.97776	0.9270	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98122	1.0426	10	0.87932	D	0	.	15.8613	0.79021	0.0:0.0:0.8639:0.1361	.	276	P31270	HXA11_HUMAN	C	276	ENSP00000006015:R276C	ENSP00000006015:R276C	R	-	1	0	HOXA11	27189056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.747000	0.55134	2.808000	0.96608	0.655000	0.94253	CGC		0.458	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			4	172	0	0	0	1	0	4	172					A	27222531	G	A	27222531	3	1	481	1	0	0	0	0	1	0	0	0	7290	1116	39	1	119	1	HOXA11	7	27222531	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		27222531	131916132	16	39121											
IKZF1	10320	broad.mit.edu	37	chr7	50455076	50455076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaatgtggatattgtggccGaagctataaacagcgaagct	11	7	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:50455076G>A	ENST00000331340.3	+	6	778	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TATTGTGGCCGAAGCTATAAA	0.473			"D,T"	BCL6	"ALL, DLBCL"																																	ENST00000331340.3				"Rec,Dom"	yes		7	7p12.2	10320	"D,T"	IKAROS family zinc finger 1			L	BCL6		"ALL, DLBCL"		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(622-624)cGa>cAa		IKAROS family zinc finger 1 (Ikaros)							55	56	55					7																	50455076		1865	4095	5960	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50455076G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.623G>A	7.37:g.50455076G>A	ENSP00000331614:p.Arg208Gln					IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000359197.5_Intron	p.R208Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			6	778	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	208					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.623G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.757812	0.96898	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	T;T;T	0.18960	2.18;2.18;2.18	5.77	5.77	0.91146	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	0.30792	0.0776	.	.	.	0.80722	D	1	P;P	0.51351	0.92;0.944	B;P	0.44811	0.341;0.461	T	0.03344	-1.1046	9	0.66056	D	0.02	-14.6208	19.9886	0.97358	0.0:0.0:1.0:0.0	.	121;208	Q13422-2;Q13422	.;IKZF1_HUMAN	Q	121;208;121	ENSP00000342750:R121Q;ENSP00000331614:R208Q;ENSP00000396554:R121Q	ENSP00000331614:R208Q	R	+	2	0	IKZF1	50422570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.823000	0.99369	2.726000	0.93360	0.655000	0.94253	CGA		0.473	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		14	44	0	0	0	1	0	14	44					A	50455076	G	A	50455076	3	1	481	1	0	0	0	0	1	0	0	0	7614	1058	37	1	641	1	IKZF1	7	50455076	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	23232545	50455076	108683587	17	39122											
FBXL13	222235	broad.mit.edu	37	chr7	102604004	102604004	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctgaaagttttgggtcGgagaagacaaccacgaaaat	11	6	1	4	rs202190502		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:102604004G>A	ENST00000313221.4	-	8	1126	c.700C>T	c.(700-702)Cga>Tga	p.R234*	FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000393772.2_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	234										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTTTGGGTCGGAGAAGACAA	0.338																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(700-702)Cga>Tga		F-box and leucine-rich repeat protein 13		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	88	90	89		700,700	4.9	0.9	7		89	0,8600		0,0,4300	no	stop-gained,stop-gained	FBXL13	NM_001111038.1,NM_145032.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	234/691,234/736	102604004	1,13005	2203	4300	6503	SO:0001587	stop_gained	222235							g.chr7:102604004G>A	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.700C>T	7.37:g.102604004G>A	ENSP00000321927:p.Arg234*					FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234*	p.R234*			Q8NEE6	FXL13_HUMAN			8	1126	-			234					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	c.700C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	38	7.150734	0.98096	2.27E-4	0.0	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	.	.	.	5.83	4.92	0.64577	.	0.330399	0.23569	N	0.046770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3558	0.74425	0.0:0.0:0.8434:0.1566	.	.	.	.	X	234;234;234;161;234;234;234;234;234	.	ENSP00000321927:R234X	R	-	1	2	FBXL13	102391240	1.000000	0.71417	0.908000	0.35775	0.881000	0.50899	3.129000	0.50500	1.383000	0.46405	0.650000	0.86243	CGA		0.338	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		41	154	0	0	0	1	0	41	154					A	102604004	G	A	102604004	4	1	481	1	0	0	0	0	0	1	0	0	5709	1124	39	1	1559	1	FBXL13	7	102604004	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	52148928	102604004	56534659	18	39123											
GSTK1	373156	broad.mit.edu	37	chr7	142965221	142965221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtggcccatgtggatgGccaaacccacatgttatttg	10	12	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:142965221G>A	ENST00000358406.5	+	7	646	c.575G>A	c.(574-576)gGc>gAc	p.G192D	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D|GSTK1_ENST00000479303.1_Missense_Mutation_p.G248D|GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	192					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CATGTGGATGGCCAAACCCAC	0.547																																						ENST00000479303.1																			0				lung(4)	4						c.(742-744)gGc>gAc		glutathione S-transferase kappa 1	Glutathione(DB00143)						310	310	310					7																	142965221		2203	4300	6503	SO:0001583	missense	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142965221G>A		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.575G>A	7.37:g.142965221G>A	ENSP00000351181:p.Gly192Asp					AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D|GSTK1_ENST00000358406.5_Missense_Mutation_p.G192D|GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D	p.G248D	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN			6	801	+	Melanoma(164;0.059)		192					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.743G>A	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118131	0.37339	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.78	1.7	0.24286	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.243435	0.48286	N	0.000183	T	0.48892	0.1525	L	0.52573	1.65	0.47245	D	0.999364	B;B;B;B	0.28801	0.015;0.018;0.071;0.223	B;B;B;B	0.34138	0.023;0.035;0.149;0.176	T	0.46205	-0.9208	9	0.49607	T	0.09	-11.9926	6.8031	0.23762	0.2415:0.1317:0.6268:0.0	.	180;149;248;192	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	D	180;149;192;248	.	ENSP00000351181:G192D	G	+	2	0	GSTK1	142675343	0.638000	0.27225	0.909000	0.35828	0.856000	0.48823	1.125000	0.31332	0.775000	0.33450	0.644000	0.83932	GGC		0.547	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		7	800	0	0	0	1	0	7	800					A	142965221	G	A	142965221	3	1	481	1	0	0	0	0	1	0	0	0	6836	1203	42	2	765	2	GSTK1	7	142965221	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	40361217	142965221	16173442	19	39124											
OR2F2	135948	broad.mit.edu	37	chr7	143632509	143632509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacactcccatgtatttcTttctcaccaacctctccctt	1	18	3	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143632509T>C	ENST00000408955.2	+	1	251	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F62L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CATGTATTTCTTTCTCACCAA	0.502																																						ENST00000408955.2																			1	Substitution - Missense(1)	p.F62L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(184-186)Ttt>Ctt		olfactory receptor, family 2, subfamily F, member 2							241	233	236					7																	143632509		2203	4298	6501	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632509T>C		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.184T>C	7.37:g.143632509T>C	ENSP00000386222:p.Phe62Leu						p.F62L	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	251	+	Melanoma(164;0.0903)		62					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.184T>C	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765883	0.69878	.	.	ENSG00000221910	ENST00000408955	T	0.13778	2.56	3.49	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.23926	0.0579	L	0.42686	1.345	0.36993	D	0.894899	D	0.71674	0.998	D	0.75484	0.986	T	0.07366	-1.0776	10	0.87932	D	0	-39.6373	6.787	0.23679	0.0:0.1182:0.0:0.8818	.	62	O95006	OR2F2_HUMAN	L	62	ENSP00000386222:F62L	ENSP00000386222:F62L	F	+	1	0	OR2F2	143263442	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	2.135000	0.42112	0.531000	0.28639	0.402000	0.26972	TTT		0.502	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			24	455	0	0	0	1	0	24	455					C	143632509	T	C	143632509	3	2	481	1	0	0	0	0	1	0	0	0	10997	1609	56	3	186	3	OR2F2	7	143632509	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	667288	143632509	15506154	20	39125											
OR2A7	401427	broad.mit.edu	37	chr7	143956629	143956629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgaagacgtagaacagGgagaagagcccaaagaggag	17	5	0	6	rs375690859	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143956629G>A	ENST00000493325.1	-	1	186	c.93C>T	c.(91-93)tcC>tcT	p.S31S	OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	31						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(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CGTAGAACAGGGAGAAGAGCC	0.537													g|||	2	0.000399361	0.0015	0.0	5008	,	,		28379	0.0		0.0	False		,,,				2504	0.0					ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(91-93)tcC>tcT		olfactory receptor, family 2, subfamily A, member 7		G		1,4311		0,1,2155	57	73	68		93	-1	0.2	7		68	0,8498		0,0,4249	no	coding-synonymous	OR2A7	NM_001005328.1		0,1,6404	AA,AG,GG		0.0,0.0232,0.0078		31/311	143956629	1,12809	2156	4249	6405	SO:0001819	synonymous_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956629G>A		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.93C>T	7.37:g.143956629G>A						RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA	p.S31S	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	186	-	Melanoma(164;0.14)		31					B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	c.93C>T	CCDS55177.1																																																																																				0.537	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			10	263	0	0	0	1	0	10	263					A	143956629	G	A	143956629	2	1	481	1	0	0	0	0	0	0	0	1	10982	1219	43	2		2	OR2A7	7	143956629	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	324120	143956629	15182034	21	39126											
SSPO	23145	broad.mit.edu	37	chr7	149489293	149489293	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattggccctgcggcagcccGggtaagggggctctgggccc	18	13	1	0	rs569985812		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:149489293G>A	ENST00000378016.2	+	0	5538							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)			GCGGCAGCCCGGGTAAGGGGG	0.672																																						ENST00000378016.2																			0													SCO-spondin							19	20	20					7																	149489293		1921	4116	6037			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489293G>A	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.149489293G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	5538	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	24	0	0	0	1	0	5	24					A	149489293	G	A	149489293	1	1	481	0	1	0	0	0	0	0	0	0	15188	1130	39	1		1	SSPO	7	149489293	RNA	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	5532664	149489293	9649370	22	39127											
SGK223	157285	broad.mit.edu	37	chr8	8185589	8185589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggctcccgcagccGcctctgttgcccgccagccc	12	20	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:8185589G>A	ENST00000520004.1	-	5	2967	c.2703C>T	c.(2701-2703)ggC>ggT	p.G901G	SGK223_ENST00000330777.4_Silent_p.G901G			Q86YV5	SG223_HUMAN		903							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCCCGCAGCCGCCTCTGTTGC	0.657																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2701-2703)ggC>ggT									49	57	55					8																	8185589		1865	4083	5948	SO:0001819	synonymous_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185589G>A																												ENST00000520004.1:c.2703C>T	8.37:g.8185589G>A						SGK223_ENST00000330777.4_Silent_p.G901G	p.G901G			Q86YV5	SG223_HUMAN			5	2967	-			901					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.2703C>T	CCDS43706.1																																																																																				0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			15	222	0	0	0	1	0	15	222					A	8185589	G	A	8185589	2	1	481	1	0	0	0	0	0	0	0	1	14210	1074	38	1		1	SGK223	8	8185589	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		8185589	138178433	23	39128											
CTSB	1508	broad.mit.edu	37	chr8	11705211	11705211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcttgtcctgtttgtagGtcgggctgtagccaggctca	14	9	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:11705211G>A	ENST00000353047.6	-	7	906	c.653C>T	c.(652-654)aCc>aTc	p.T218I	CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	218					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CTGTTTGTAGGTCGGGCTGTA	0.657																																						ENST00000353047.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(652-654)aCc>aTc		cathepsin B							103	100	101					8																	11705211		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11705211G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"Cathepsins"	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.653C>T	8.37:g.11705211G>A	ENSP00000345672:p.Thr218Ile					CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I	p.T218I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	7	906	-	all_epithelial(15;0.205)		218					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.653C>T	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333706	0.24167	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	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	5.17	4.2	0.49525	Peptidase C1A, papain C-terminal (2);	0.765746	0.12743	N	0.442868	D	0.82481	0.5046	M	0.75447	2.3	0.58432	D	0.999993	B;B;B;B;B	0.27498	0.113;0.005;0.067;0.002;0.18	B;B;B;B;B	0.31290	0.127;0.014;0.062;0.003;0.078	T	0.81996	-0.0676	10	0.66056	D	0.02	.	9.1832	0.37154	0.0834:0.0:0.7592:0.1573	.	155;218;124;218;155	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	I	218;155;218;218;218;218;218;218;218;124	ENSP00000415889:T218I;ENSP00000345672:T218I;ENSP00000435105:T218I;ENSP00000433215:T218I;ENSP00000409917:T218I;ENSP00000342070:T218I;ENSP00000432244:T218I;ENSP00000434217:T218I	ENSP00000342070:T218I	T	-	2	0	CTSB	11742620	0.991000	0.36638	0.965000	0.40720	0.355000	0.29361	3.354000	0.52254	2.397000	0.81536	0.561000	0.74099	ACC		0.657	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		53	141	0	0	0	1	0	53	141					A	11705211	G	A	11705211	3	1	481	1	0	0	0	0	1	0	0	0	4030	1261	44	2	382	2	CTSB	8	11705211	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	3519622	11705211	134658811	24	39129											
CYHR1	50626	broad.mit.edu	37	chr8	145690245	145690245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcccagcaccagatgggAcagggctgtgctccactcgg	12	15	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:145690245A>C	ENST00000438911.2	-	1	173	c.40T>G	c.(40-42)Tcc>Gcc	p.S14A	CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000530374.1_5'Flank|KIFC2_ENST00000301332.2_5'Flank	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	14						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)			ACCAGATGGGACAGGGCTGTG	0.622																																						ENST00000438911.2																			0				haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7						c.(40-42)Tcc>Gcc		cysteine/histidine-rich 1							38	39	38					8																	145690245		2199	4299	6498	SO:0001583	missense	50626					perinuclear region of cytoplasm	zinc ion binding	g.chr8:145690245A>C	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.40T>G	8.37:g.145690245A>C	ENSP00000387426:p.Ser14Ala					CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A	p.S14A	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	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)		1	173	-	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)		14					B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	ENST00000438911.2	37	c.40T>G	CCDS47943.1	.	.	.	.	.	.	.	.	.	.	a	15.11	2.736223	0.49045	.	.	ENSG00000187954	ENST00000438911;ENST00000526887;ENST00000403000;ENST00000424149;ENST00000306145;ENST00000533764;ENST00000530637	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.44	4.44	0.53790	.	0.245052	0.28549	U	0.014943	T	0.60932	0.2307	L	0.39898	1.24	0.22240	N	0.999261	D;P	0.61697	0.99;0.643	D;P	0.70935	0.971;0.661	T	0.53070	-0.8490	10	0.87932	D	0	.	10.3801	0.44106	1.0:0.0:0.0:0.0	.	14;14	Q6ZMK1-3;Q6ZMK1	.;CYHR1_HUMAN	A	14	ENSP00000387426:S14A;ENSP00000385962:S14A;ENSP00000414647:S14A;ENSP00000304826:S14A;ENSP00000432902:S14A;ENSP00000434642:S14A	ENSP00000304826:S14A	S	-	1	0	CYHR1	145661053	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	2.377000	0.44300	1.777000	0.52277	0.454000	0.30748	TCC		0.622	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687		10	34	0	0	0	1	0	10	34					C	145690245	A	C	145690245	3	2	481	1	0	0	0	0	1	0	0	0	4140	275	10	5	1401	5	CYHR1	8	145690245	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	133985034	145690245	673777	25	39130											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	14	17	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					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.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(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)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	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						c.(328-330)tGg>tAg		cyclin-dependent kinase inhibitor 2A							18	20	20					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971029C>T	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.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L	p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		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)	2	599	-		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)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	44	0	0	0	1	0	6	44					T	21971029	C	T	21971029	4	4	481	1	0	0	0	0	0	1	0	0	3161	595	21	2	149	2	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		21971029	119242402	26	39131											
NOL8	55035	broad.mit.edu	37	chr9	95081532	95081532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacttctgtccctggcaCagctttcatatggaaatcca	8	12	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:95081532C>T	ENST00000535387.1	-	4	387	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	NOL8_ENST00000543985.1_5'Flank|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M|NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M|NOL8_ENST00000545558.1_Missense_Mutation_p.V130M					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTCCCTGGCACAGCTTTCATA	0.468																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(388-390)Gtg>Atg		nucleolar protein 8							176	163	167					9																	95081532		1973	4152	6125	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95081532C>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.388G>A	9.37:g.95081532C>T	ENSP00000441300:p.Val130Met					NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M|NOL8_ENST00000535387.1_Missense_Mutation_p.V130M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M	p.V130M			Q76FK4	NOL8_HUMAN			5	880	-			130						Missense_Mutation	SNP	ENST00000535387.1	37	c.388G>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252136	0.95336	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000411621;ENST00000535807;ENST00000536624	T;T;T;T;T;T;T;T;T	0.58797	1.85;1.11;1.85;2.05;1.11;1.59;0.31;0.45;1.15	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.52905	1.665	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.75374	-0.3340	10	0.87932	D	0	-12.7359	19.5227	0.95192	0.0:1.0:0.0:0.0	.	130	Q76FK4	NOL8_HUMAN	M	130;130;62;130;130;62;130;130;130;62;62;130	ENSP00000401177:V130M;ENSP00000351723:V62M;ENSP00000441140:V130M;ENSP00000441300:V130M;ENSP00000440709:V62M;ENSP00000414112:V130M;ENSP00000412471:V130M;ENSP00000390143:V130M;ENSP00000442037:V130M	ENSP00000351723:V62M	V	-	1	0	NOL8	94121353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.359000	0.59449	2.699000	0.92147	0.650000	0.86243	GTG		0.468	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		16	30	0	0	0	1	0	16	30					T	95081532	C	T	95081532	3	4	481	1	0	0	0	0	1	0	0	0	10527	478	17	2	3167	2	NOL8	9	95081532	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	73110503	95081532	46131899	27	39132											
PRDM12	59335	broad.mit.edu	37	chr9	133553963	133553963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggtacggaaactcacaCaacaccttcctggggatccc	10	13	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133553963C>A	ENST00000253008.2	+	4	678	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	206					neurogenesis (GO:0022008)|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)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GAAACTCACACAACACCTTCC	0.592																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(616-618)caC>caA		PR domain containing 12							109	99	102					9																	133553963		2203	4300	6503	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133553963C>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.618C>A	9.37:g.133553963C>A	ENSP00000253008:p.His206Gln						p.H206Q	NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	4	678	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	206			SET.		A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.618C>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468533	0.26335	.	.	ENSG00000130711	ENST00000253008	T	0.21361	2.01	5.88	2.61	0.31194	SET domain (2);	0.096234	0.64402	D	0.000001	T	0.14700	0.0355	L	0.34521	1.04	0.42318	D	0.992245	B	0.14438	0.01	B	0.08055	0.003	T	0.06770	-1.0808	10	0.40728	T	0.16	-43.4685	8.7728	0.34742	0.1137:0.667:0.0:0.2193	.	206	Q9H4Q4	PRD12_HUMAN	Q	206	ENSP00000253008:H206Q	ENSP00000253008:H206Q	H	+	3	2	PRDM12	132543784	0.998000	0.40836	0.997000	0.53966	0.598000	0.36846	0.612000	0.24283	0.414000	0.25790	-1.134000	0.01955	CAC		0.592	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		4	93	1	0	0.00024832	1	0.00027797	4	93					A	133553963	C	A	133553963	3	1	481	1	0	0	0	0	1	0	0	0	12453	477	17	4	632	4	PRDM12	9	133553963	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	38472431	133553963	7659468	28	39133											
LAMC3	10319	broad.mit.edu	37	chr9	133884973	133884973	+	Splice_Site	DEL	A	A	-													gtcaacatcaccctccgcctAggtaagcgcgggctgggggc					rs35774154		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133884973delA	ENST00000361069.4	+	1	505	c.372delA	c.(370-372)cta>ct	p.L124fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	124	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCGCCTAGGTAAGCGCG	0.687																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.e1+1		laminin, gamma 3							12	8	9					9																	133884973		2118	4201	6319	SO:0001630	splice_region_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133884973delA	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.373+1A>-	9.37:g.133884973delA						LAMC3_ENST00000480883.1_3'UTR	p.L124_splice	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	1	505	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	124			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Splice_Site	DEL	ENST00000361069.4	37	c.373_splice	CCDS6938.1																																																																																				0.687	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	133884973	A	-	133884973	8	5	481	1	0	1	0	1	0	0	1	0	8616	434	15	0	374	0	LAMC3	9	133884973	Splice_Site	DEL	A	TCGA-TQ-A7RH-01A-12D-A34A-08	331010	133884973	7328458	29	39134											
CDC123	8872	broad.mit.edu	37	chr10	12238281	12238281	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcactgccagttctccGcgtggtacccgttcttccga	9	15	3	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:12238281G>C	ENST00000281141.4	+	1	317	c.37G>C	c.(37-39)Gcg>Ccg	p.A13P	NUDT5_ENST00000378937.3_5'Flank|CDC123_ENST00000455773.3_3'UTR|NUDT5_ENST00000378940.3_5'Flank|NUDT5_ENST00000491614.1_5'Flank|NUDT5_ENST00000378927.3_5'Flank|NUDT5_ENST00000537776.1_5'Flank|CDC123_ENST00000378900.2_Missense_Mutation_p.A13P|NUDT5_ENST00000378952.3_5'Flank	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	13					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CCAGTTCTCCGCGTGGTACCC	0.622																																						ENST00000281141.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(37-39)Gcg>Ccg		cell division cycle 123							122	105	110					10																	12238281		2203	4300	6503	SO:0001583	missense	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12238281G>C	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 7", "cell division cycle 123 homolog (S. cerevisiae)"	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.37G>C	10.37:g.12238281G>C	ENSP00000281141:p.Ala13Pro					CDC123_ENST00000378900.2_Missense_Mutation_p.A13P|CDC123_ENST00000455773.3_3'UTR	p.A13P	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN			1	317	+			13					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	c.37G>C	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666940	0.67814	.	.	ENSG00000151465	ENST00000429258;ENST00000281141;ENST00000378900;ENST00000442050	.	.	.	4.58	2.61	0.31194	.	0.363954	0.32218	N	0.006420	T	0.34221	0.0890	L	0.48642	1.525	0.32442	N	0.546564	P	0.38195	0.622	B	0.33254	0.16	T	0.42361	-0.9456	9	0.35671	T	0.21	-9.0411	7.845	0.29421	0.0:0.1505:0.3869:0.4627	.	13	O75794	CD123_HUMAN	P	13	.	ENSP00000281141:A13P	A	+	1	0	CDC123	12278287	0.620000	0.27068	1.000000	0.80357	0.997000	0.91878	1.358000	0.34102	0.589000	0.29677	0.561000	0.74099	GCG		0.622	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		10	142	0	0	0	1	0	10	142					C	12238281	G	C	12238281	3	2	481	1	0	0	0	0	1	0	0	0	3055	1087	38	4	39	4	CDC123	10	12238281	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		12238281	123296466	30	39135											
TMEM26	219623	broad.mit.edu	37	chr10	63170316	63170316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacgaggaagttcttcgCggcaaagaacaccagcatct	9	13	2	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:63170316C>T	ENST00000399298.3	-	6	1239	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	291						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGTTCTTCGCGGCAAAGAAC	0.512																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(871-873)Gcg>Acg		transmembrane protein 26							104	109	107					10																	63170316		2110	4226	6336	SO:0001583	missense	219623					integral to membrane		g.chr10:63170316C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.871G>A	10.37:g.63170316C>T	ENSP00000382237:p.Ala291Thr					TMEM26_ENST00000507507.1_5'UTR	p.A291T	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1239	-	Prostate(12;0.0112)		291					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.871G>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331502	0.41297	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.585349	0.19210	N	0.119945	T	0.56891	0.2016	L	0.55481	1.735	0.80722	D	1	P	0.46142	0.873	B	0.38880	0.284	T	0.60850	-0.7181	9	0.51188	T	0.08	-10.3272	20.3967	0.98985	0.0:1.0:0.0:0.0	.	291	Q6ZUK4	TMM26_HUMAN	T	291	.	ENSP00000382237:A291T	A	-	1	0	TMEM26	62840322	0.183000	0.23186	0.007000	0.13788	0.042000	0.13812	2.667000	0.46808	2.829000	0.97493	0.655000	0.94253	GCG		0.512	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		26	48	0	0	0	1	0	26	48					T	63170316	C	T	63170316	3	4	481	1	0	0	0	0	1	0	0	0	16148	768	27	1	239	1	TMEM26	10	63170316	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	50932035	63170316	72364431	31	39136											
MYST4	23522	broad.mit.edu	37	chr10	76735813	76735813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacccaaacgtatgcgtcGtaaaactgaattatcttcca	5	12	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:76735813G>A	ENST00000287239.4	+	8	2207	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	573	Negatively regulates HAT activity.				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)										CGTATGCGTCGTAAAACTGAA	0.453																																						ENST00000287239.4																			0											c.(1717-1719)cGt>cAt		K(lysine) acetyltransferase 6B							115	105	108					10																	76735813		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735813G>A	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.1718G>A	10.37:g.76735813G>A	ENSP00000287239:p.Arg573His					KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron	p.R573H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	2207	+			573			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1718G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	8.462	0.855458	0.17106	.	.	ENSG00000156650	ENST00000287239	T	0.61859	0.07	6.08	6.08	0.98989	.	0.000000	0.47852	D	0.000215	T	0.44644	0.1303	N	0.19112	0.55	0.80722	D	1	B	0.16396	0.017	B	0.08055	0.003	T	0.27571	-1.0070	9	.	.	.	-7.2212	18.8453	0.92203	0.0:0.0:1.0:0.0	.	573	Q8WYB5	KAT6B_HUMAN	H	573	ENSP00000287239:R573H	.	R	+	2	0	KAT6B	76405819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.154000	0.50693	2.890000	0.99128	0.655000	0.94253	CGT		0.453	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	141	0	0	0	1	0	6	141					A	76735813	G	A	76735813	3	1	481	1	0	0	0	0	1	0	0	0	10105	1145	40	1	1740	1	MYST4	10	76735813	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	13565497	76735813	58798934	32	39137											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-													ctcagcccgcggcagccgctGcagcagcggcagtggcagca					rs551280800		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(850-870)del		zinc finger, MIZ-type containing 1																																				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.850_870delGCAGCAGCGGCAGTGGCAGCA	10.37:g.81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENSP00000334474:p.Ala284_Ala290del					ZMIZ1_ENST00000478357.1_3'UTR	p.AAAAVAA284del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1422_1442	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		284			Ala-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.850_870delGCAGCAGCGGCAGTGGCAGCA	CCDS7357.1																																																																																				0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		37	100						37	100	---	---	---	---	-	81052026	GCAGCAGCGGCAGTGGCAGCA	-	81052006	7	5	481	1	0	1	0	1	0	0	0	0	17693	1319	46	0	876	0	ZMIZ1	10	81052006	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	TCGA-TQ-A7RH-01A-12D-A34A-08	4316193	81052006	54482741	33	39138											
FAM178A	55719	broad.mit.edu	37	chr10	102698451	102698451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattttagatctttgtttcCcctggagaatcttcagccag	8	9	3	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:102698451C>T	ENST00000238961.4	+	11	3154	c.2612C>T	c.(2611-2613)cCc>cTc	p.P871L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	871						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TCTTTGTTTCCCCTGGAGAAT	0.368																																						ENST00000238961.3																			0											c.(2611-2613)cCc>cTc		family with sequence similarity 178, member A							190	185	186					10																	102698451		2203	4300	6503	SO:0001583	missense	0							g.chr10:102698451C>T	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.2612C>T	10.37:g.102698451C>T	ENSP00000238961:p.Pro871Leu					FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L	p.P871L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			11	2760	+			871					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2612C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644368	0.87859	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.38560	1.14;1.13	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.61158	-0.7119	10	0.54805	T	0.06	-15.7672	19.2359	0.93858	0.0:1.0:0.0:0.0	.	871;871	Q8IX21;B1AL17	F178A_HUMAN;.	L	871	ENSP00000238961:P871L;ENSP00000359292:P871L	ENSP00000238961:P871L	P	+	2	0	FAM178A	102688441	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.534000	0.67167	2.894000	0.99253	0.591000	0.81541	CCC		0.368	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			12	159	0	0	0	1	0	12	159					T	102698451	C	T	102698451	3	4	481	1	0	0	0	0	1	0	0	0	5503	623	22	2	2654	2	FAM178A	10	102698451	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	21646445	102698451	32836296	34	39139											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609945	115609945	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgatatcatgagtgtcttCatcactttgaagtggagaat	9	6	4	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:115609945C>A	ENST00000361384.2	-	2	1836	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	307					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.E307*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGTGTCTTCATCACTTTGA	0.398								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			1	Substitution - Nonsense(1)	p.E307*(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(919-921)Gaa>Taa	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							139	130	133					10																	115609945		2203	4300	6503	SO:0001587	stop_gained	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609945C>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.919G>T	10.37:g.115609945C>A	ENSP00000355185:p.Glu307*					DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1836	-			307					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	ENST00000361384.2	37	c.919G>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	46	12.649466	0.99685	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.4442	18.7178	0.91682	0.0:1.0:0.0:0.0	.	.	.	.	X	307	.	ENSP00000355185:E307X	E	-	1	0	DCLRE1A	115599935	0.992000	0.36948	0.963000	0.40424	0.824000	0.46624	3.798000	0.55522	2.857000	0.98124	0.650000	0.86243	GAA		0.398	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		65	118	1	0	3.30712e-30	1	4.00055e-30	65	118					A	115609945	C	A	115609945	4	1	481	1	0	0	0	0	0	1	0	0	4294	835	29	4	2235	4	DCLRE1A	10	115609945	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	12911494	115609945	19924802	35	39140											
CYP2E1	1571	broad.mit.edu	37	chr10	135352317	135352317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggagaaggcctggctcGcatggagttgtttcttttgt	14	7	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:135352317G>A	ENST00000463117.2	+	11	1603	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	444					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGCCTGGCTCGCATGGAGTTG	0.448									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1330-1332)cGc>cAc		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						282	236	251					10																	135352317		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135352317G>A	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1331G>A	10.37:g.135352317G>A	ENSP00000440689:p.Arg444His					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H	p.R444H			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	1603	+		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)	444					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1331G>A	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	.	17.67	3.446293	0.63178	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.70516	-0.49;-0.49	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.79926	2.475	0.33276	D	0.56165	D	0.89917	1.0	D	0.91635	0.999	D	0.86763	0.1968	10	0.72032	D	0.01	.	9.5224	0.39143	0.094:0.0:0.906:0.0	.	444	P05181	CP2E1_HUMAN	H	444	ENSP00000440689:R444H;ENSP00000252945:R444H	ENSP00000252945:R444H	R	+	2	0	CYP2E1	135202307	0.912000	0.30974	1.000000	0.80357	0.289000	0.27227	4.389000	0.59639	2.772000	0.95346	0.561000	0.74099	CGC		0.448	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		8	493	0	0	0	1	0	8	493					A	135352317	G	A	135352317	3	1	481	1	0	0	0	0	1	0	0	0	4170	1087	38	1	1365	1	CYP2E1	10	135352317	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	19742372	135352317	182430	36	39141											
OR51S1	119692	broad.mit.edu	37	chr11	4869860	4869860	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgggcaggccaaacgAgccacatctggatgcaagca	12	12	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:4869860A>T	ENST00000322101.2	-	1	654	c.579T>A	c.(577-579)gcT>gcA	p.A193A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAAACGAGCCACATCTG	0.557																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(577-579)gcT>gcA		olfactory receptor, family 51, subfamily S, member 1							83	91	88					11																	4869860		2201	4298	6499	SO:0001819	synonymous_variant	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869860A>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.579T>A	11.37:g.4869860A>T						MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.A193A	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	654	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	193					B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	c.579T>A	CCDS31362.1																																																																																				0.557	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		8	68	0	0	0	1	0	8	68					T	4869860	A	T	4869860	2	4	481	1	0	0	0	0	0	0	0	1	11105	291	11	5		5	OR51S1	11	4869860	Silent	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08		4869860	130136656	37	39142											
OR4A16	81327	broad.mit.edu	37	chr11	55111566	55111566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatgaaaaatgctatgaAaaatctctggtgtgaaaagt	10	3	1	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111566A>G	ENST00000314721.2	+	1	940	c.890A>G	c.(889-891)aAa>aGa	p.K297R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATGCTATGAAAAATCTCTGG	0.313																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(889-891)aAa>aGa		olfactory receptor, family 4, subfamily A, member 16							41	41	41					11																	55111566		2201	4294	6495	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111566A>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.890A>G	11.37:g.55111566A>G	ENSP00000325128:p.Lys297Arg						p.K297R	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	940	+			297					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.890A>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.192470	0.00302	.	.	ENSG00000181961	ENST00000314721	T	0.38077	1.16	3.02	-1.28	0.09318	.	.	.	.	.	T	0.13756	0.0333	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.31888	-0.9927	9	0.06757	T	0.87	.	4.274	0.10800	0.3368:0.2132:0.4501:0.0	.	297	Q8NH70	O4A16_HUMAN	R	297	ENSP00000325128:K297R	ENSP00000325128:K297R	K	+	2	0	OR4A16	54868142	0.000000	0.05858	0.122000	0.21767	0.015000	0.08874	-0.663000	0.05299	-0.378000	0.07918	0.346000	0.21813	AAA		0.313	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		23	36	0	0	0	1	0	23	36					G	55111566	A	G	55111566	3	3	481	1	0	0	0	0	1	0	0	0	11041	14	1	3	892	3	OR4A16	11	55111566	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	50241706	55111566	79894950	38	39143			1	50		2	2	40	N	G_A	8.314483e-05
OR4A16	81327	broad.mit.edu	37	chr11	55111605	55111605	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttaagtatagttagaaaaaGagtatctcccacactgaaca	7	7	1	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111605G>T	ENST00000314721.2	+	1	979	c.929G>T	c.(928-930)aGa>aTa	p.R310I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(928-930)aGa>aTa		olfactory receptor, family 4, subfamily A, member 16							31	32	32					11																	55111605		2201	4293	6494	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111605G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.929G>T	11.37:g.55111605G>T	ENSP00000325128:p.Arg310Ile						p.R310I	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	979	+			310					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.929G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	10.61	1.399324	0.25291	.	.	ENSG00000181961	ENST00000314721	T	0.38401	1.14	3.02	-0.365	0.12549	.	.	.	.	.	T	0.16811	0.0404	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.18561	0.022	T	0.22906	-1.0203	9	0.87932	D	0	.	3.838	0.08902	0.2306:0.4546:0.3147:0.0	.	310	Q8NH70	O4A16_HUMAN	I	310	ENSP00000325128:R310I	ENSP00000325128:R310I	R	+	2	0	OR4A16	54868181	0.000000	0.05858	0.015000	0.15790	0.034000	0.12701	-0.048000	0.11944	0.074000	0.16767	0.423000	0.28283	AGA		0.348	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		15	35	1	0	1.15088e-07	1	1.32794e-07	15	35					T	55111605	G	T	55111605	3	4	481	1	0	0	0	0	1	0	0	0	11041	942	33	4	931	4	OR4A16	11	55111605	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	39	55111605	79894911	39	39144			1	50		2	2	40	N	G_A	8.314483e-05
CCDC153	283152	broad.mit.edu	37	chr11	119061065	119061065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgagtccaaactggcGttgctgctccttgtgcctgg	16	10	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:119061065G>A	ENST00000503566.2	-	6	576	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	193										lung(3)|stomach(1)	4						CCAAACTGGCGTTGCTGCTCC	0.572																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(577-579)Cgc>Tgc		coiled-coil domain containing 153							118	105	109					11																	119061065		2200	4295	6495	SO:0001583	missense	283152							g.chr11:119061065G>A		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.577C>T	11.37:g.119061065G>A	ENSP00000423567:p.Arg193Cys					CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C	p.R193C			Q494R4	CC153_HUMAN			6	576	-			193						Missense_Mutation	SNP	ENST00000503566.2	37	c.577C>T	CCDS44753.1	.	.	.	.	.	.	.	.	.	.	G	4.034	0.003811	0.07866	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.46819	0.86;0.86	4.68	0.36	0.16097	.	0.582291	0.16723	N	0.202186	T	0.25158	0.0611	N	0.19112	0.55	0.21652	N	0.999608	B	0.12013	0.005	B	0.06405	0.002	T	0.13791	-1.0496	10	0.54805	T	0.06	-11.3955	1.4316	0.02335	0.2731:0.1413:0.4408:0.1449	.	193	Q494R4	CC153_HUMAN	C	193	ENSP00000423567:R193C;ENSP00000445431:R193C	ENSP00000445431:R193C	R	-	1	0	CCDC153	118566275	0.000000	0.05858	0.951000	0.38953	0.033000	0.12548	-0.246000	0.08878	-0.086000	0.12550	-0.254000	0.11334	CGC		0.572	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		59	94	0	0	0	1	0	59	94					A	119061065	G	A	119061065	3	1	481	1	0	0	0	0	1	0	0	0	2787	1145	40	1	59	1	CCDC153	11	119061065	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	63949460	119061065	15945451	40	39145											
CD163	9332	broad.mit.edu	37	chr12	7635291	7635291	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaagaagaataatgcgacGaaaatggccaacagaacaac	9	8	1	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000396620.3_Silent_p.F1098F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATAATGCGACGAAAATGGCCA	0.423																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3193-3195)ttC>ttT		CD163 molecule							131	137	135					12																	7635291		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635291G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3195C>T	12.37:g.7635291G>A						CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000541972.1_Silent_p.F1053F	p.F1065F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3397	-			1065					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.3195C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	2.931	-0.221078	0.06061	.	.	ENSG00000177575	ENST00000537626	.	.	.	4.32	1.48	0.22813	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	.	4.6156	0.12424	0.1985:0.1808:0.6208:0.0	.	.	.	.	L	78	.	.	S	-	2	0	CD163	7526558	0.229000	0.23729	0.012000	0.15200	0.001000	0.01503	0.717000	0.25851	0.348000	0.23949	-0.224000	0.12420	TCG		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		9	204	0	0	0	1	0	9	204					A	7635291	G	A	7635291	2	1	481	1	0	0	0	0	0	0	0	1	2967	1049	37	1		1	CD163	12	7635291	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		7635291	126216604	41	39146											
H1FNT	341567	broad.mit.edu	37	chr12	48723559	48723559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgccgccagccccttcGcaaggcggccaggaaggcca	15	16	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:48723559G>A	ENST00000335017.1	+	1	797	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	162	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CAGCCCCTTCGCAAGGCGGCC	0.716																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(484-486)cGc>cAc		H1 histone family, member N, testis-specific							13	13	13					12																	48723559		2170	4238	6408	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723559G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.485G>A	12.37:g.48723559G>A	ENSP00000334805:p.Arg162His						p.R162H	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	797	+			162			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.485G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729809	0.89390	.	.	ENSG00000187166	ENST00000335017	T	0.20463	2.07	4.83	1.56	0.23342	.	0.000000	0.32753	N	0.005684	T	0.32376	0.0827	L	0.50333	1.59	0.26077	N	0.981143	D	0.89917	1.0	D	0.64687	0.928	T	0.04153	-1.0973	10	0.72032	D	0.01	-12.7369	7.9451	0.29982	0.0987:0.4906:0.4108:0.0	.	162	Q75WM6	H1FNT_HUMAN	H	162	ENSP00000334805:R162H	ENSP00000334805:R162H	R	+	2	0	H1FNT	47009826	0.130000	0.22417	0.374000	0.26016	0.416000	0.31233	0.474000	0.22148	0.553000	0.29044	0.650000	0.86243	CGC		0.716	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		3	4	0	0	0	1	0	3	4					A	48723559	G	A	48723559	3	1	481	1	0	0	0	0	1	0	0	0	6921	1087	38	1	487	1	H1FNT	12	48723559	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	41088268	48723559	85128336	42	39147											
SART3	9733	broad.mit.edu	37	chr12	108920291	108920291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtttctccagctgcaGggatgctgttctcgaccctt	10	11	2	0	rs552177489		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:108920291G>A	ENST00000228284.3	-	16	2189	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SART3_ENST00000431469.2_Missense_Mutation_p.P616L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	652	Required for nuclear localization.				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						TCCAGCTGCAGGGATGCTGTT	0.507									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1954-1956)cCt>cTt		squamous cell carcinoma antigen recognized by T cells 3							92	92	92					12																	108920291		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920291G>A	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.1955C>T	12.37:g.108920291G>A	ENSP00000228284:p.Pro652Leu					SART3_ENST00000431469.2_Missense_Mutation_p.P616L	p.P652L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			16	2189	-			652			Required for nuclear localization.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1955C>T	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100681	0.20552	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000546815	T;T;T	0.57107	2.28;2.17;0.42	5.21	5.21	0.72293	.	0.660840	0.15186	N	0.275817	T	0.33000	0.0848	N	0.14661	0.345	0.23293	N	0.997961	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.07328	-1.0778	10	0.37606	T	0.19	-2.8991	7.0632	0.25137	0.0957:0.177:0.7273:0.0	.	670;616;652	F8VV04;B7ZKM0;Q15020	.;.;SART3_HUMAN	L	652;616;228;670	ENSP00000228284:P652L;ENSP00000414453:P616L;ENSP00000449386:P670L	ENSP00000228284:P652L	P	-	2	0	SART3	107444421	0.021000	0.18746	0.011000	0.14972	0.054000	0.15201	1.753000	0.38359	2.428000	0.82296	0.561000	0.74099	CCT		0.507	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			7	149	0	0	0	1	0	7	149					A	108920291	G	A	108920291	3	1	481	1	0	0	0	0	1	0	0	0	13847	1000	35	2	952	2	SART3	12	108920291	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	60196732	108920291	24931604	43	39148											
CENPJ	55835	broad.mit.edu	37	chr13	25486740	25486740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcaagttttttaaaaaGtgggtctttataagcccctt	7	7	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:25486740G>T	ENST00000381884.4	-	2	609	c.424C>A	c.(424-426)Ctt>Att	p.L142I	CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	142					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTTTAAAAAGTGGGTCTTTA	0.388																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(424-426)Ctt>Att		centromere protein J							80	82	82					13																	25486740		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486740G>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.424C>A	13.37:g.25486740G>T	ENSP00000371308:p.Leu142Ile					CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I	p.L142I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	609	-		Lung SC(185;0.0225)|Breast(139;0.0602)	142					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.424C>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471191	0.84533	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.19105	2.17;2.17	5.9	5.9	0.94986	.	0.096581	0.46145	D	0.000306	T	0.48295	0.1492	M	0.77616	2.38	0.28203	N	0.927262	D	0.89917	1.0	D	0.68943	0.961	T	0.44528	-0.9322	10	0.52906	T	0.07	.	17.1723	0.86833	0.0:0.0:1.0:0.0	.	142	Q9HC77	CENPJ_HUMAN	I	142	ENSP00000371308:L142I;ENSP00000441090:L142I	ENSP00000371308:L142I	L	-	1	0	CENPJ	24384740	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.301000	0.72782	2.791000	0.96007	0.655000	0.94253	CTT		0.388	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		8	94	1	0	0.0809354	1	0.0831528	8	94					T	25486740	G	T	25486740	3	4	481	1	0	0	0	0	1	0	0	0	3234	1029	36	4	3656	4	CENPJ	13	25486740	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		25486740	89683138	44	39149											
ADPRHL1	113622	broad.mit.edu	37	chr13	114107558	114107558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtggtgagggcctcggcGgttgcgatgtgcatgatggt	18	8	0	2	rs369993693		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:114107558G>A	ENST00000375418.3	-	1	281	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	65					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GGGCCTCGGCGGTTGCGATGT	0.647																																						ENST00000375418.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(193-195)acC>acT		ADP-ribosylhydrolase like 1		G		1,4405	2.1+/-5.4	0,1,2202	117	97	104		195	-11.5	0	13		104	0,8600		0,0,4300	no	coding-synonymous	ADPRHL1	NM_138430.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		65/355	114107558	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107558G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.195C>T	13.37:g.114107558G>A							p.T65T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	281	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	65					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.195C>T	CCDS9535.1																																																																																				0.647	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		41	17	0	0	0	1	0	41	17					A	114107558	G	A	114107558	2	1	481	1	0	0	0	0	0	0	0	1	332	1103	39	1		1	ADPRHL1	13	114107558	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	88620818	114107558	1062320	45	39150											
AQR	9716	broad.mit.edu	37	chr15	35193058	35193058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttccgaatagtctccaGcacagcctgtcagtaaaagg	10	11	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr15:35193058G>A	ENST00000156471.5	-	20	2233	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	670					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)		ATAGTCTCCAGCACAGCCTGT	0.438																																						ENST00000156471.5																			0				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						c.(2008-2010)Ctg>Ttg		aquarius intron-binding spliceosomal factor							91	83	86					15																	35193058		1984	4173	6157	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35193058G>A	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.2008C>T	15.37:g.35193058G>A							p.L670L	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	20	2233	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	670					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.2008C>T	CCDS42013.1																																																																																				0.438	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		4	90	0	0	0	1	0	4	90					A	35193058	G	A	35193058	2	1	481	1	0	0	0	0	0	0	0	1	835	962	34	2		2	AQR	15	35193058	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		35193058	67338334	46	39151											
UNKL	64718	broad.mit.edu	37	chr16	1417745	1417745	+	Frame_Shift_Del	DEL	C	C	-													tgacccgggccagctcagctCcgtttggacttgcactcgaa							TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:1417745delC	ENST00000389221.4	-	13	1690	c.1691delG	c.(1690-1692)ggafs	p.G564fs	UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	564					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CAGCTCAGCTCCGTTTGGACT	0.657																																						ENST00000389221.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(1690-1692)gafs		unkempt family zinc finger-like							26	23	24					16																	1417745		2175	4281	6456	SO:0001589	frameshift_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1417745delC	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1691delG	16.37:g.1417745delC	ENSP00000373873:p.Gly564fs					UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs|UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs	p.G564fs	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN			13	1690	-		Hepatocellular(780;0.0893)	564					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Frame_Shift_Del	DEL	ENST00000389221.4	37	c.1691delG	CCDS53981.1																																																																																				0.657	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		2	4						2	4	---	---	---	---	-	1417745	C	-	1417745	7	5	481	1	0	1	0	1	0	0	0	0	16998	855	30	0	513	0	UNKL	16	1417745	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RH-01A-12D-A34A-08		1417745	88937008	47	39152											
ZNF668	79759	broad.mit.edu	37	chr16	31072792	31072792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggacaccagcatcttggCattccacatgctccaccgtc	7	18	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:31072792C>T	ENST00000538906.1	-	3	2241	c.1457G>A	c.(1456-1458)tGc>tAc	p.C486Y	ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	486					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						AGCATCTTGGCATTCCACATG	0.672																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1456-1458)tGc>tAc		zinc finger protein 668							69	71	71					16																	31072792		2197	4300	6497	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072792C>T		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.1457G>A	16.37:g.31072792C>T	ENSP00000440149:p.Cys486Tyr					ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y	p.C486Y	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2241	-			486					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1457G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	7.114	0.576537	0.13686	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	4.81	3.8	0.43715	.	0.458811	0.21740	N	0.069836	T	0.04588	0.0125	N	0.08118	0	0.35776	D	0.821282	B	0.23128	0.08	B	0.17433	0.018	T	0.21211	-1.0252	10	0.87932	D	0	-32.3661	9.3578	0.38177	0.2288:0.7712:0.0:0.0	.	486	Q96K58	ZN668_HUMAN	Y	509;486;486;486;486	ENSP00000442573:C509Y;ENSP00000441349:C486Y;ENSP00000440149:C486Y;ENSP00000378434:C486Y;ENSP00000300849:C486Y	ENSP00000300849:C486Y	C	-	2	0	ZNF668	30980293	0.996000	0.38824	0.998000	0.56505	0.387000	0.30353	2.958000	0.49145	2.523000	0.85059	0.561000	0.74099	TGC		0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		39	76	0	0	0	1	0	39	76					T	31072792	C	T	31072792	3	4	481	1	0	0	0	0	1	0	0	0	18072	710	25	2	406	2	ZNF668	16	31072792	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	29655047	31072792	59281961	48	39153											
ABCC12	94160	broad.mit.edu	37	chr16	48117859	48117859	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgtgatcgcagttgagAactgtgttgaggcggtgggc	18	6	0	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:48117859A>G	ENST00000311303.3	-	28	4299	c.3954T>C	c.(3952-3954)gtT>gtC	p.V1318V	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1318	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					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)				CGCAGTTGAGAACTGTGTTGA	0.512																																						ENST00000311303.3																			0				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						c.(3952-3954)gtT>gtC		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							153	148	150					16																	48117859		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48117859A>G	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.3954T>C	16.37:g.48117859A>G						ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.V1318V	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			28	4299	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1318			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3954T>C	CCDS10730.1																																																																																				0.512	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		42	57	0	0	0	1	0	42	57					G	48117859	A	G	48117859	2	3	481	1	0	0	0	0	0	0	0	1	52	233	9	3		3	ABCC12	16	48117859	Silent	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	17045067	48117859	42236894	49	39154											
ZZEF1	23140	broad.mit.edu	37	chr17	3974138	3974138	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaagttctgaatatggCccacagaagttctgagcagg	11	7	2	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:3974138C>A	ENST00000381638.2	-	26	4039	c.3915G>T	c.(3913-3915)ggG>ggT	p.G1305G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1305							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGAATATGGCCCACAGAAGT	0.438																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(3913-3915)ggG>ggT		zinc finger, ZZ-type with EF-hand domain 1							111	110	111					17																	3974138		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3974138C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3915G>T	17.37:g.3974138C>A							p.G1305G	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			26	4039	-			1305					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.3915G>T	CCDS11043.1																																																																																				0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		61	93	1	0	4.96213e-28	1	5.9073e-28	61	93					A	3974138	C	A	3974138	2	1	481	1	0	0	0	0	0	0	0	1	18252	726	26	4		4	ZZEF1	17	3974138	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		3974138	77221072	50	39155											
ZMYND15	84225	broad.mit.edu	37	chr17	4644908	4644908	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgtttcctgtctcttActtgtgacggatgagcatgg	11	10	1	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:4644908A>T	ENST00000433935.1	+	3	681	c.624A>T	c.(622-624)ttA>ttT	p.L208F	ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F|CXCL16_ENST00000574412.1_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	208					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						CCTGTCTCTTACTTGTGACGG	0.582																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(622-624)ttA>ttT		zinc finger, MYND-type containing 15							168	174	172					17																	4644908		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4644908A>T	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.624A>T	17.37:g.4644908A>T	ENSP00000391742:p.Leu208Phe					ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F	p.L208F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			3	681	+			208					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.624A>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265272	0.59431	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.63417	0.06;-0.04	5.15	-3.22	0.05125	.	0.000000	0.44097	D	0.000488	T	0.58609	0.2134	L	0.32530	0.975	0.27509	N	0.951732	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.986	T	0.53613	-0.8414	10	0.72032	D	0.01	-6.7728	3.0321	0.06110	0.3254:0.1264:0.4135:0.1347	.	208;208	B4DXY5;Q9H091	.;ZMY15_HUMAN	F	208	ENSP00000391742:L208F;ENSP00000269289:L208F	ENSP00000269289:L208F	L	+	3	2	ZMYND15	4591657	0.019000	0.18553	0.931000	0.37212	0.849000	0.48306	-0.258000	0.08733	-0.405000	0.07599	-0.370000	0.07254	TTA		0.582	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		7	321	0	0	0	1	0	7	321					T	4644908	A	T	4644908	3	4	481	1	0	0	0	0	1	0	0	0	17705	388	14	5	630	5	ZMYND15	17	4644908	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	670770	4644908	76550302	51	39156											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	14	12	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:7578413C>A	ENST00000269305.4	-	5	706	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Ttg	Other conserved DNA damage response genes	tumor protein p53							51	51	51					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>A	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.517G>T	17.37:g.7578413C>A	ENSP00000269305:p.Val173Leu	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)				TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.517G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743630	0.89663	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	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	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		78	17	1	0	9.35349e-44	1	1.15002e-43	78	17					A	7578413	C	A	7578413	3	1	481	1	0	0	0	0	1	0	0	0	16378	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	2933505	7578413	73616797	52	39157											
FLOT2	2319	broad.mit.edu	37	chr17	27207790	27207790	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagctcggccagcagtcGgttcacttctgatgtgacct	12	12	2	2	rs187973207	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:27207790G>A	ENST00000394908.4	-	10	1293	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FLOT2_ENST00000394906.2_Nonsense_Mutation_p.R452*|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	397					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCAGCAGTCGGTTCACTTCT	0.572																																						ENST00000394906.2																			0				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11						c.(1354-1356)Cga>Tga		flotillin 2							90	96	94					17																	27207790		2165	4267	6432	SO:0001587	stop_gained	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27207790G>A	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.1189C>T	17.37:g.27207790G>A	ENSP00000378368:p.Arg397*					FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*|FLOT2_ENST00000394908.4_Nonsense_Mutation_p.R397*	p.R452*			Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		12	1431	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		397						Nonsense_Mutation	SNP	ENST00000394908.4	37	c.1354C>T	CCDS11245.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	37	6.512997	0.97629	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8604	18.4071	0.90539	0.0:0.0:1.0:0.0	.	.	.	.	X	452;397	.	ENSP00000378366:R452X	R	-	1	2	FLOT2	24231916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.824000	0.99380	2.587000	0.87381	0.561000	0.74099	CGA		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		11	100	0	0	0	1	0	11	100					A	27207790	G	A	27207790	4	1	481	1	0	0	0	0	0	1	0	0	5937	1124	39	1	105	1	FLOT2	17	27207790	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	19629377	27207790	53987420	53	39158											
TOP2A	7153	broad.mit.edu	37	chr17	38564814	38564814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttacagctgaacacttcttGtttaactggacttgggcctt	8	9	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:38564814G>T	ENST00000423485.1	-	11	1430	c.1272C>A	c.(1270-1272)aaC>aaA	p.N424K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	424					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)	AACACTTCTTGTTTAACTGGA	0.363																																						ENST00000423485.1																			0				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						c.(1270-1272)aaC>aaA		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|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)						119	111	114					17																	38564814		1869	4099	5968	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564814G>T		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.1272C>A	17.37:g.38564814G>T	ENSP00000411532:p.Asn424Lys						p.N424K	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		11	1430	-		Breast(137;0.00328)	424					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1272C>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323097	0.41096	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21361	2.01	5.5	3.17	0.36434	DNA topoisomerase, type IIA, subunit B, domain 2 (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	N	0.16037	0.36	0.58432	D	0.999994	B	0.23650	0.089	B	0.23275	0.045	T	0.10730	-1.0617	10	0.06236	T	0.91	.	8.9993	0.36072	0.2983:0.0:0.7017:0.0	.	424	P11388	TOP2A_HUMAN	K	424;504;447;460	ENSP00000411532:N424K	ENSP00000269577:N504K	N	-	3	2	TOP2A	35818340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.246000	0.43142	1.344000	0.45657	0.591000	0.81541	AAC		0.363	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			4	83	1	0	0.00909568	1	0.00974537	4	83					T	38564814	G	T	38564814	3	4	481	1	0	0	0	0	1	0	0	0	16362	1368	48	4	3423	4	TOP2A	17	38564814	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	11357024	38564814	42630396	54	39159											
AOC3	8639	broad.mit.edu	37	chr17	41004014	41004014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacggctccccgtggtctGcaatcaggggaccgggccac	13	16	2	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:41004014G>A	ENST00000308423.2	+	1	814	c.654G>A	c.(652-654)ctG>ctA	p.L218L	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	218					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCGTGGTCTGCAATCAGGGG	0.607																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(652-654)ctG>ctA		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						26	27	26					17																	41004014		2202	4300	6502	SO:0001819	synonymous_variant	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004014G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.654G>A	17.37:g.41004014G>A							p.L218L	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	814	+		Breast(137;0.000143)	218					B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.654G>A	CCDS11444.1																																																																																				0.607	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		26	69	0	0	0	1	0	26	69					A	41004014	G	A	41004014	2	1	481	1	0	0	0	0	0	0	0	1	728	1306	46	2		2	AOC3	17	41004014	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	2439200	41004014	40191196	55	39160											
UNK	85451	broad.mit.edu	37	chr17	73780866	73780866	+	5'UTR	DEL	T	T	-													ccgtgtggggggtcttcacgTtctcgtggcgcggcgcaggc					rs375403107		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:73780866delT	ENST00000589666.1	+	0	15				MIR4738_ENST00000579134.1_RNA|UNK_ENST00000293218.3_Frame_Shift_Del_p.F45fs|H3F3B_ENST00000586607.1_Intron	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			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)			GGTCTTCACGTTCTCGTGGCG	0.617																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(133-135)tcfs		unkempt family zinc finger							22	28	26					17																	73780866		1908	4116	6024	SO:0001623	5_prime_UTR_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780866delT	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.-96T>-	17.37:g.73780866delT						H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR	p.F45fs			Q9C0B0	UNK_HUMAN	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)		2	133	+			0						Frame_Shift_Del	DEL	ENST00000589666.1	37	c.133delT	CCDS45778.2																																																																																				0.617	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		8	45						8	45	---	---	---	---	-	73780866	T	-	73780866	6	5	481	0	1	1	0	1	0	0	0	0	16997	1725	60	0		0	UNK	17	73780866	5'UTR	DEL	T	TCGA-TQ-A7RH-01A-12D-A34A-08	32776852	73780866	7414344	56	39161											
MUC16	94025	broad.mit.edu	37	chr19	9072517	9072517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccccatgaggacctgtttGggtggtgatggttatttctg	14	7	1	2	rs200381081		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:9072517G>T	ENST00000397910.4	-	3	15132	c.14929C>A	c.(14929-14931)Caa>Aaa	p.Q4977K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4979	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						GGACCTGTTTGGGTGGTGATG	0.483																																						ENST00000397910.4																			0				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						c.(14929-14931)Caa>Aaa		mucin 16, cell surface associated		G	LYS/GLN	0,3896		0,0,1948	202	175	184		14929	-3.3	0	19		184	1,8285		0,1,4142	yes	missense	MUC16	NM_024690.2	53	0,1,6090	TT,TG,GG		0.0121,0.0,0.0082	benign	4977/14508	9072517	1,12181	1948	4143	6091	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072517G>T	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.14929C>A	19.37:g.9072517G>T	ENSP00000381008:p.Gln4977Lys						p.Q4977K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15132	-			4979			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14929C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.12	1.546548	0.27652	0.0	1.21E-4	ENSG00000181143	ENST00000397910	T	0.02258	4.37	2.47	-3.33	0.04958	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	.	.	.	B	0.16603	0.018	B	0.08055	0.003	T	0.47661	-0.9100	8	0.87932	D	0	.	1.6168	0.02705	0.1349:0.3671:0.2865:0.2116	.	4977	B5ME49	.	K	4977	ENSP00000381008:Q4977K	ENSP00000381008:Q4977K	Q	-	1	0	MUC16	8933517	0.000000	0.05858	0.000000	0.03702	0.844000	0.47949	-0.355000	0.07671	-0.570000	0.06022	0.282000	0.19409	CAA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	66	1	0	3.62473e-10	1	4.24773e-10	23	66					T	9072517	G	T	9072517	3	4	481	1	0	0	0	0	1	0	0	0	9973	1357	47	4	28922	4	MUC16	19	9072517	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		9072517	50056466	57	39162											
OR10H4	126541	broad.mit.edu	37	chr19	16059822	16059822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagatacagtatccatgcCtagtcagaactatagcatca	6	11	2	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:16059822C>T	ENST00000322107.1	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	2						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						GTATCCATGCCTAGTCAGAAC	0.438																																						ENST00000322107.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(4-6)cCt>cTt		olfactory receptor, family 10, subfamily H, member 4							183	160	168					19																	16059822		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16059822C>T	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.5C>T	19.37:g.16059822C>T	ENSP00000318834:p.Pro2Leu						p.P2L	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	5	+			2					Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.5C>T	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	c	0.141	-1.102014	0.01828	.	.	ENSG00000176231	ENST00000322107	T	0.37235	1.21	1.53	-3.04	0.05412	.	1.881800	0.03727	U	0.252757	T	0.15003	0.0362	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10086	-1.0645	10	0.33940	T	0.23	.	1.9714	0.03406	0.2615:0.3336:0.0:0.405	.	2	Q8NGA5	O10H4_HUMAN	L	2	ENSP00000318834:P2L	ENSP00000318834:P2L	P	+	2	0	OR10H4	15920822	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.592000	0.05747	-0.581000	0.05937	-1.595000	0.00837	CCT		0.438	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			6	94	0	0	0	1	0	6	94					T	16059822	C	T	16059822	3	4	481	1	0	0	0	0	1	0	0	0	10908	681	24	2	7	2	OR10H4	19	16059822	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	6987305	16059822	43069161	58	39163											
ZNF607	84775	broad.mit.edu	37	chr19	38189657	38189657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacaagatatgaggcacaacGaaaggacttcccacattctt	7	10	1	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:38189657G>T	ENST00000355202.4	-	5	1970	c.1375C>A	c.(1375-1377)Cgt>Agt	p.R459S	ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAGGCACAACGAAAGGACTTC	0.413																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(1375-1377)Cgt>Agt		zinc finger protein 607							98	99	99					19																	38189657		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189657G>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1375C>A	19.37:g.38189657G>T	ENSP00000347338:p.Arg459Ser					ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S|CTD-2528L19.4_ENST00000586606.2_Intron	p.R459S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1970	-			459					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1375C>A	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.104522	0.00356	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.35605	1.3;1.3	2.38	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.02357	-0.585	0.09310	N	1	B;B	0.31640	0.003;0.333	B;B	0.30029	0.002;0.11	T	0.23332	-1.0191	9	0.02654	T	1	.	0.4414	0.00487	0.1961:0.1515:0.2743:0.3781	.	459;458	Q96SK3;F5H141	ZN607_HUMAN;.	S	459;458	ENSP00000347338:R459S;ENSP00000438015:R458S	ENSP00000347338:R459S	R	-	1	0	ZNF607	42881497	0.000000	0.05858	0.318000	0.25279	0.114000	0.19823	-2.399000	0.01050	0.201000	0.20466	0.561000	0.74099	CGT		0.413	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		5	110	1	0	1	1	1	5	110					T	38189657	G	T	38189657	3	4	481	1	0	0	0	0	1	0	0	0	18030	1058	37	4	719	4	ZNF607	19	38189657	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	22129835	38189657	20939326	59	39164											
NLRP12	91662	broad.mit.edu	37	chr19	54314138	54314148	+	Frame_Shift_Del	DEL	CACTCTGGTTC	CACTCTGGTTC	-													ttgcatgctgcattccgtggCactctggttcatctccctgc							TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:54314138_54314148delCACTCTGGTTC	ENST00000324134.6	-	3	933_943	c.765_775delGAACCAGAGTG	c.(763-777)atgaaccagagtgccfs	p.MNQSA255fs	NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	255	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATTCCGTGGCACTCTGGTTCATCTCCCTGC	0.564																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(763-777)atccfs		NLR family, pyrin domain containing 12																																				SO:0001589	frameshift_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314138_54314148delCACTCTGGTTC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.765_775delGAACCAGAGTG	19.37:g.54314138_54314148delCACTCTGGTTC	ENSP00000319377:p.Met255fs					NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs	p.MNQSA255fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	933_943	-	Ovarian(34;0.19)		255			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Frame_Shift_Del	DEL	ENST00000324134.6	37	c.765_775delGAACCAGAGTG	CCDS12864.1																																																																																				0.564	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		14	6						14	6	---	---	---	---	-	54314148	CACTCTGGTTC	-	54314138	7	5	481	1	0	1	0	1	0	0	0	0	10474	710	25	0	2538	0	NLRP12	19	54314138	Frame_Shift_Del	DEL	CACTCTGGTTC	TCGA-TQ-A7RH-01A-12D-A34A-08	16124481	54314138	4814845	60	39165											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993836	45993836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgtgtgtccagcccctgCtgcccagtgacctgcgagcc	12	17	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:45993836C>T	ENST00000400374.3	+	1	231	c.201C>T	c.(199-201)tgC>tgT	p.C67C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	67	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCAGCCCCTGCTGCCCAGTGA	0.711																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(199-201)tgC>tgT		keratin associated protein 10-4							18	34	28					21																	45993836		2017	4206	6223	SO:0001819	synonymous_variant	386672					keratin filament		g.chr21:45993836C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.201C>T	21.37:g.45993836C>T						TSPEAR_ENST00000323084.4_Intron	p.C67C	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	231	+			67			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Silent	SNP	ENST00000400374.3	37	c.201C>T	CCDS42957.1																																																																																				0.711	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		23	139	0	0	0	1	0	23	139					T	45993836	C	T	45993836	2	4	481	1	0	0	0	0	0	0	0	1	8511	805	28	2		2	KRTAP10-4	21	45993836	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		45993836	2136059	61	39166											
FTCD	10841	broad.mit.edu	37	chr21	47557244	47557244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctccagggctttggccGccacctgcaaggaccccagg	11	17	1	0	rs145609043		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:47557244G>A	ENST00000291670.5	-	13	1491	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	FTCD_ENST00000397748.1_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V|FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000397743.1_Silent_p.G468G|FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000498355.2_5'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	483	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|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)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGCTTTGGCCGCCACCTGCAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18300	0.0		0.001	False		,,,				2504	0.0					ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1447-1449)gCg>gTg		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	90	87	88		1448,1448	4.1	1	21	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	FTCD	NM_006657.2,NM_206965.1	64,64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	483/542,483/542	47557244	3,13003	2203	4300	6503	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47557244G>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1448C>T	21.37:g.47557244G>A	ENSP00000291670:p.Ala483Val					FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000291670.5_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V|FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Silent_p.G468G	p.A483V			O95954	FTCD_HUMAN		Colorectal(79;0.235)	13	1491	-	Breast(49;0.214)		483			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.1448C>T	CCDS13731.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	19.52|19.52	3.843774|3.843774	0.71488|0.71488	0.0|0.0	3.49E-4|3.49E-4	ENSG00000160282|ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000397746|ENST00000446405	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.12|4.12	4.12|4.12	0.48240|0.48240	Cyclodeaminase/cyclohydrolase (2);|.	0.126274|.	0.52532|.	U|.	0.000077|.	T|T	0.80654|0.80654	0.4664|0.4664	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	P;D|.	0.64776|.	0.834;0.929|.	D|D	0.85232|0.85232	0.1033|0.1033	10|5	0.87932|.	D|.	0|.	-7.8491|-7.8491	13.3068|13.3068	0.60357|0.60357	0.0:0.1728:0.8272:0.0|0.0:0.1728:0.8272:0.0	.|.	483;483|.	O95954-2;O95954|.	.;FTCD_HUMAN|.	V|W	483|24	ENSP00000291670:A483V;ENSP00000380856:A483V;ENSP00000352707:A483V;ENSP00000380854:A483V|.	ENSP00000291670:A483V|.	A|R	-|-	2|1	0|2	FTCD|FTCD	46381672|46381672	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.897000|0.897000	0.52465|0.52465	3.380000|3.380000	0.52448|0.52448	1.842000|1.842000	0.53543|0.53543	0.455000|0.455000	0.32223|0.32223	GCG|CGG		0.597	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		32	23	0	0	0	1	0	32	23					A	47557244	G	A	47557244	3	1	481	1	0	0	0	0	1	0	0	0	6081	1087	38	1	185	1	FTCD	21	47557244	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	1563408	47557244	572651	62	39167											
ATRX	546	broad.mit.edu	37	chrX	76849196	76849196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctctgccattcgaAgaatttcaaagagaagtacc	6	10	2	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:76849196A>G	ENST00000373344.5	-	26	6294	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2027	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						TGCCATTCGAAGAATTTCAAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6079-6081)cTt>cCt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						72	69	70					X																	76849196		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76849196A>G	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.6080T>C	X.37:g.76849196A>G	ENSP00000362441:p.Leu2027Pro					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P	p.L2027P	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			26	6294	-			2027			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6080T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948058	0.53186	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94862	-3.54;-3.54	5.45	5.45	0.79879	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000010	D	0.97804	0.9279	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98781	1.0732	10	0.87932	D	0	-5.4506	14.5755	0.68243	1.0:0.0:0.0:0.0	.	1989;2027	P46100-4;P46100	.;ATRX_HUMAN	P	2027;1989	ENSP00000362441:L2027P;ENSP00000378967:L1989P	ENSP00000362441:L2027P	L	-	2	0	ATRX	76735852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	1.823000	0.53134	0.430000	0.28490	CTT		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		47	24	0	0	0	1	0	47	24					G	76849196	A	G	76849196	3	3	481	1	0	0	0	0	1	0	0	0	1208	72	3	3	1438	3	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08		76849196	78421364	63	39168											
COL4A6	1288	broad.mit.edu	37	chrX	107417809	107417809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaggccaggagctccaGgtaggcctggtggtccaggt	18	10	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:107417809G>T	ENST00000372216.4	-	31	3102	c.3002C>A	c.(3001-3003)cCt>cAt	p.P1001H	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1001H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1000H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1001	Triple-helical region.				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)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGAGCTCCAGGTAGGCCTGG	0.547									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3001-3003)cCt>cAt		collagen, type IV, alpha 6							28	30	30					X																	107417809		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417809G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3002C>A	X.37:g.107417809G>T	ENSP00000361290:p.Pro1001His					COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1001H|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1000H	p.P1001H			Q14031	CO4A6_HUMAN			31	3233	-			1001			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3002C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421361	0.42918	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97114	-4.19;-4.19;-3.93;-3.93;-4.25	5.03	5.03	0.67393	.	0.000000	0.42053	D	0.000777	D	0.98036	0.9353	L	0.61387	1.9	0.51767	D	0.999936	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.999;0.995;0.987	D	0.99133	1.0853	10	0.72032	D	0.01	.	17.7759	0.88508	0.0:0.0:1.0:0.0	.	1000;1000;1001;1000	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	H	1001;1000;1001;1000;1000;1000	ENSP00000361290:P1001H;ENSP00000334733:P1000H;ENSP00000378340:P1001H;ENSP00000443707:P1000H;ENSP00000445236:P1000H	ENSP00000334733:P1000H	P	-	2	0	COL4A6	107304465	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	8.317000	0.89987	2.432000	0.82394	0.594000	0.82650	CCT		0.547	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			17	20	1	0	0.000566183	1	0.000624467	17	20					T	107417809	G	T	107417809	3	4	481	1	0	0	0	0	1	0	0	0	3695	1000	35	4	2133	4	COL4A6	23	107417809	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	30568613	107417809	47852751	64	39169											
LRCH2	57631	broad.mit.edu	37	chrX	114361427	114361427	+	Frame_Shift_Del	DEL	T	T	-													tcagatgatactggagattgTgttgacatattagcattatc							TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:114361427delT	ENST00000317135.8	-	16	1800	c.1770delA	c.(1768-1770)acafs	p.T590fs	LRCH2_ENST00000538422.1_Intron|SNORA35_ENST00000607417.1_RNA	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	590										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CTGGAGATTGTGTTGACATAT	0.284																																						ENST00000317135.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(1768-1770)acfs		leucine-rich repeats and calponin homology (CH) domain containing 2							50	41	44					X																	114361427		1784	3998	5782	SO:0001589	frameshift_variant	57631							g.chrX:114361427delT	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.1770delA	X.37:g.114361427delT	ENSP00000325091:p.Thr590fs					LRCH2_ENST00000538422.1_Intron	p.T590fs	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN			16	1800	-			590					F5H2T1|Q08AD5|Q9HA88|Q9P233	Frame_Shift_Del	DEL	ENST00000317135.8	37	c.1770delA	CCDS48155.1																																																																																				0.284	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		2	4						2	4	---	---	---	---	-	114361427	T	-	114361427	7	5	481	1	0	1	0	1	0	0	0	0	8933	1683	59	0	551	0	LRCH2	23	114361427	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RH-01A-12D-A34A-08	6943618	114361427	40909133	65	39170											
KIAA1210	57481	broad.mit.edu	37	chrX	118222263	118222263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggaggcagaggcttcataGaaatgctctcttcaacagcc	10	10	3	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:118222263G>A	ENST00000402510.2	-	11	2929	c.2930C>T	c.(2929-2931)tCt>tTt	p.S977F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	977										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						AGGCTTCATAGAAATGCTCTC	0.463																																						ENST00000402510.2																			0				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						c.(2929-2931)tCt>tTt		KIAA1210							72	64	66					X																	118222263		1931	4133	6064	SO:0001583	missense	57481							g.chrX:118222263G>A	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.2930C>T	X.37:g.118222263G>A	ENSP00000384670:p.Ser977Phe						p.S977F	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2929	-			977					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2930C>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.500028	0.26861	.	.	ENSG00000250423	ENST00000402510	T	0.11385	2.78	4.58	1.73	0.24493	.	.	.	.	.	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	P	0.44816	0.844	B	0.42319	0.383	T	0.25187	-1.0139	8	.	.	.	.	3.6098	0.08055	0.2106:0.0:0.595:0.1944	.	977	Q9ULL0	K1210_HUMAN	F	977	ENSP00000384670:S977F	.	S	-	2	0	RP13-347D8.6	118106291	0.010000	0.17322	0.000000	0.03702	0.006000	0.05464	0.247000	0.18179	0.220000	0.20860	0.600000	0.82982	TCT		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		31	6	0	0	0	1	0	31	6					A	118222263	G	A	118222263	3	1	481	1	0	0	0	0	1	0	0	0	8214	942	33	2	2215	2	KIAA1210	23	118222263	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	3860836	118222263	37048297	66	39171											
ARV1	64801	broad.mit.edu	37	chr1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A													gtagaacggcccatgacggcINSaaaaaaaaagcccaacttca					rs544784472	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-513)gcaaaafs	p.AK170fs	ARV1_ENST00000366658.2_Frame_Shift_Ins_p.AK130fs|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													GAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|complex_insertion	4	0.000798722	0.0	0.0	5008	,	,		16943	0.001		0.001	False		,,,				2504	0.002					ENST00000310256.2																			0				breast(3)|large_intestine(2)|lung(2)	7						c.(508-510)gaafs		ARV1 homolog (S. cerevisiae)				6,4260		0,6,2127						-1.7	0			80	7,8247		0,7,4120	no	frameshift	ARV1	NM_022786.1		0,13,6247	A1A1,A1R,RR		0.0848,0.1406,0.1038				13,12507				SO:0001589	frameshift_variant	64801				sphingolipid metabolic process	integral to membrane		g.chr1:231131566_231131567insA	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"ARV1 homolog (yeast)"			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.518dupA	1.37:g.231131575_231131575dupA	ENSP00000312458:p.Ala170fs					ARV1_ENST00000366658.2_Frame_Shift_Ins_p.E130fs|ARV1_ENST00000497753.1_3'UTR	p.E170fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)	4	566_567	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	170					A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Ins	INS	ENST00000310256.2	37	c.509_510insA	CCDS1589.1																																																																																				0.381	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786		7	183						7	183	---	---	---	---	A	231131567	-	A	231131566	7	5	482	1	0	1	1	0	0	0	0	0	1002	710	25	0	523	0	ARV1	1	231131566	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RI-01A-11D-A33T-08		231131566	18119055	1	39172											
TTN	7273	broad.mit.edu	37	chr2	179611166	179611166	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctcaaattctttaaCgtctttttcacttaattcaa	2	10	5	0	rs397517817		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:179611166C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V5321I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_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)			AATTCTTTAACGTCTTTTTCA	0.363																																						ENST00000360870.5																			0				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						c.(15961-15963)Gtt>Att		titin							64	58	60					2																	179611166		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611166C>T	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.10361-4518G>A	2.37:g.179611166C>T						TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	p.V5321I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16183	-			8833			Ig-like 34.		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	ENST00000591111.1	37	c.15961G>A		.	.	.	.	.	.	.	.	.	.	C	16.24	3.067909	0.55539	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60040	0.22	5.88	5.88	0.94601	.	.	.	.	.	T	0.70833	0.3269	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.64364	-0.6425	9	0.16896	T	0.51	.	14.3978	0.67022	0.0:0.9299:0.0:0.0701	.	5321	Q8WZ42-6	.	I	5321;602	ENSP00000354117:V5321I	ENSP00000304714:V602I	V	-	1	0	TTN	179319411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.083000	0.71326	2.782000	0.95742	0.655000	0.94253	GTT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	101	0	0	0	1	0	6	101					T	179611166	C	T	179611166	1	4	482	0	1	0	0	0	0	0	0	0	16732	536	19	1		1	TTN	2	179611166	Intron	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		179611166	63588207	2	39173											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			65	119	0	0	0	1	0	65	119					T	209113112	C	T	209113112	3	4	482	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	29501946	209113112	34086261	3	39174											
LMOD3	56203	broad.mit.edu	37	chr3	69167987	69167987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttgaggttggttttctCgggtggttctctggcttccg	13	8	3	1	rs149196259		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:69167987C>T	ENST00000420581.2	-	2	1698	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	507						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)		TTGGTTTTCTCGGGTGGTTCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17579	0.0		0.001	False		,,,				2504	0.0					ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1519-1521)Gag>Aag		leiomodin 3 (fetal)		C	LYS/GLU	1,3985		0,1,1992	99	102	101		1519	5.8	1	3	dbSNP_134	101	13,8295		0,13,4141	yes	missense	LMOD3	NM_198271.3	56	0,14,6133	TT,TC,CC		0.1565,0.0251,0.1139	probably-damaging	507/561	69167987	14,12280	1993	4154	6147	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69167987C>T	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.1519G>A	3.37:g.69167987C>T	ENSP00000414670:p.Glu507Lys					LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K	p.E507K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		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)	2	1698	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	507					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1519G>A	CCDS46862.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	28.4	4.918293	0.92249	2.51E-4	0.001565	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.17691	2.26;2.26;2.26	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.09997	-1.0649	10	0.10902	T	0.67	-37.3614	20.1466	0.98079	0.0:1.0:0.0:0.0	.	507	Q0VAK6	LMOD3_HUMAN	K	507	ENSP00000414670:E507K;ENSP00000417210:E507K;ENSP00000418645:E507K	ENSP00000414670:E507K	E	-	1	0	LMOD3	69250677	1.000000	0.71417	0.966000	0.40874	0.897000	0.52465	7.487000	0.81328	2.779000	0.95612	0.591000	0.81541	GAG		0.547	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		32	37	0	0	0	1	0	32	37					T	69167987	C	T	69167987	3	4	482	1	0	0	0	0	1	0	0	0	8858	893	31	1	171	1	LMOD3	3	69167987	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		69167987	128854443	4	39175											
KIAA1407	57577	broad.mit.edu	37	chr3	113684008	113684008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactaatctggctcattcGttcaccagacttgtcttact	5	12	4	1	rs145304274	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:113684008G>A	ENST00000295878.3	-	17	2951	c.2805C>T	c.(2803-2805)aaC>aaT	p.N935N		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	935										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGGCTCATTCGTTCACCAGAC	0.438													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17460	0.0		0.0	False		,,,				2504	0.0					ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2803-2805)aaC>aaT		KIAA1407		G		21,4385	29.0+/-57.7	0,21,2182	115	116	116		2805	2.4	0	3	dbSNP_134	116	0,8600		0,0,4300	no	coding-synonymous	KIAA1407	NM_020817.1		0,21,6482	AA,AG,GG		0.0,0.4766,0.1615		935/937	113684008	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113684008G>A	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.2805C>T	3.37:g.113684008G>A							p.N935N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2951	-			935					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.2805C>T	CCDS2977.1																																																																																				0.438	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		12	123	0	0	0	1	0	12	123					A	113684008	G	A	113684008	2	1	482	1	0	0	0	0	0	0	0	1	8229	1136	40	1		1	KIAA1407	3	113684008	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	44516021	113684008	84338422	5	39176											
STAP1	26228	broad.mit.edu	37	chr4	68456652	68456652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtaggacaaaactacaCtattgaactggaaaaacctg	9	8	0	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:68456652C>A	ENST00000265404.2	+	7	792	c.710C>A	c.(709-711)aCt>aAt	p.T237N	STAP1_ENST00000396225.1_Missense_Mutation_p.T237N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	237	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CAAAACTACACTATTGAACTG	0.373																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(709-711)aCt>aAt		signal transducing adaptor family member 1							86	74	78					4																	68456652		2203	4300	6503	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68456652C>A	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"SH2 domain containing"	24133	protein-coding gene	gene with protein product	"BCR downstream signaling 1"	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.710C>A	4.37:g.68456652C>A	ENSP00000265404:p.Thr237Asn					STAP1_ENST00000396225.1_Missense_Mutation_p.T237N	p.T237N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			7	792	+			237			SH2.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.710C>A	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248427	0.59103	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.88896	-2.44;-2.44	5.56	4.72	0.59763	SH2 motif (4);	0.162693	0.56097	D	0.000037	D	0.91630	0.7355	L	0.51422	1.61	0.43118	D	0.994834	D	0.76494	0.999	D	0.72338	0.977	D	0.92069	0.5663	10	0.87932	D	0	-7.8768	10.6699	0.45751	0.0:0.9116:0.0:0.0884	.	237	Q9ULZ2	STAP1_HUMAN	N	237	ENSP00000265404:T237N;ENSP00000379527:T237N	ENSP00000265404:T237N	T	+	2	0	STAP1	68139247	0.956000	0.32656	0.999000	0.59377	0.919000	0.55068	1.125000	0.31332	1.490000	0.48466	-0.142000	0.14014	ACT		0.373	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		8	112	1	0	5.68852e-11	1	6.14728e-11	8	112					A	68456652	C	A	68456652	3	1	482	1	0	0	0	0	1	0	0	0	15251	565	20	4	736	4	STAP1	4	68456652	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		68456652	122697624	6	39177											
NPY2R	4887	broad.mit.edu	37	chr4	156135535	156135535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtaattgccctggaccgGcacaggtgcatcgtctacca	10	13	1	0			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:156135535G>A	ENST00000329476.3	+	2	933	c.444G>A	c.(442-444)cgG>cgA	p.R148R	NPY2R_ENST00000506608.1_Silent_p.R148R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	148					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)	CCCTGGACCGGCACAGGTGCA	0.557																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(442-444)cgG>cgA		neuropeptide Y receptor Y2							55	51	52					4																	156135535		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135535G>A	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.444G>A	4.37:g.156135535G>A						NPY2R_ENST00000506608.1_Silent_p.R148R	p.R148R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	933	+	all_hematologic(180;0.24)	Renal(120;0.0854)	148					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.444G>A	CCDS3791.1																																																																																				0.557	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		4	91	0	0	0	1	0	4	91					A	156135535	G	A	156135535	2	1	482	1	0	0	0	0	0	0	0	1	10609	1190	42	2		2	NPY2R	4	156135535	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	87678883	156135535	35018741	7	39178											
C5orf49	134121	broad.mit.edu	37	chr5	7835522	7835522	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatgaagtcccaggctTtttgcatgttctctgtcatc	7	10	2	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:7835522T>G	ENST00000399810.2	-	2	705	c.237A>C	c.(235-237)aaA>aaC	p.K79N	C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	79										large_intestine(3)|lung(5)|skin(1)	9						GTCCCAGGCTTTTTGCATGTT	0.338																																						ENST00000399810.2																			0				large_intestine(3)|lung(5)|skin(1)	9						c.(235-237)aaA>aaC		chromosome 5 open reading frame 49							145	141	142					5																	7835522		1827	4094	5921	SO:0001583	missense	134121							g.chr5:7835522T>G		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.237A>C	5.37:g.7835522T>G	ENSP00000382708:p.Lys79Asn					C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N	p.K79N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN			2	705	-			79						Missense_Mutation	SNP	ENST00000399810.2	37	c.237A>C	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175640	0.57692	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.35789	1.29;1.29	4.95	-3.81	0.04294	.	.	.	.	.	T	0.31295	0.0792	M	0.63843	1.955	0.22050	N	0.99939	B	0.23540	0.087	B	0.25759	0.063	T	0.39542	-0.9609	9	0.72032	D	0.01	-11.3251	6.5529	0.22444	0.0:0.4092:0.1376:0.4532	.	79	A4QMS7	CE049_HUMAN	N	79	ENSP00000382708:K79N;ENSP00000426019:K79N	ENSP00000382708:K79N	K	-	3	2	C5orf49	7888522	0.312000	0.24545	0.005000	0.12908	0.924000	0.55760	-0.552000	0.06020	-0.906000	0.03866	0.459000	0.35465	AAA		0.338	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		77	162	0	0	0	1	0	77	162					G	7835522	T	G	7835522	3	3	482	1	0	0	0	0	1	0	0	0	2307	1838	64	5	214	5	C5orf49	5	7835522	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		7835522	173079738	8	39179											
HSPA9	3313	broad.mit.edu	37	chr5	137895665	137895665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaggagcagcacatccGtgacatcgccggccaacaca	9	15	1	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:137895665G>A	ENST00000297185.3	-	11	1423	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	433					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGCACATCCGTGACATCGCC	0.498																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(1297-1299)aCg>aTg		heat shock 70kDa protein 9 (mortalin)							78	73	75					5																	137895665		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137895665G>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1298C>T	5.37:g.137895665G>A	ENSP00000297185:p.Thr433Met					HSPA9_ENST00000501917.2_Intron	p.T433M	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1423	-			433					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.1298C>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845400	0.51164	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.04317	3.65	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.55541	-0.8125	10	0.87932	D	0	-14.3546	15.5616	0.76253	0.0:0.0:0.8607:0.1393	.	364;433	B7Z1V7;P38646	.;GRP75_HUMAN	M	433;386;419	ENSP00000297185:T433M	ENSP00000297185:T433M	T	-	2	0	HSPA9	137923564	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.912000	0.87465	1.443000	0.47586	-0.181000	0.13052	ACG		0.498	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		7	73	0	0	0	1	0	7	73					A	137895665	G	A	137895665	3	1	482	1	0	0	0	0	1	0	0	0	7417	1145	40	1	769	1	HSPA9	5	137895665	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	130060143	137895665	43019595	9	39180											
ZNF184	7738	broad.mit.edu	37	chr6	27420565	27420565	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggttttcactccggctgaagGctttttcacattcattacat	7	10	3	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:27420565G>C	ENST00000211936.6	-	6	1057	c.773C>G	c.(772-774)gCc>gGc	p.A258G	ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	258					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						CCGGCTGAAGGCTTTTTCACA	0.378																																						ENST00000211936.6																			0				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						c.(772-774)gCc>gGc		zinc finger protein 184							112	118	116					6																	27420565		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420565G>C	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.773C>G	6.37:g.27420565G>C	ENSP00000211936:p.Ala258Gly					ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G	p.A258G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1057	-			258					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.773C>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356708	0.41801	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.01043	5.41;5.41	4.99	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000234	T	0.00845	0.0028	L	0.33339	1.005	0.29464	N	0.857512	P	0.42518	0.782	P	0.51866	0.682	T	0.53823	-0.8384	10	0.48119	T	0.1	.	6.6321	0.22863	0.0967:0.3108:0.5924:0.0	.	258	Q99676	ZN184_HUMAN	G	258	ENSP00000211936:A258G;ENSP00000366636:A258G	ENSP00000211936:A258G	A	-	2	0	ZNF184	27528544	0.000000	0.05858	1.000000	0.80357	0.735000	0.41995	-0.039000	0.12124	2.591000	0.87537	0.455000	0.32223	GCC		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		27	215	0	0	0	1	0	27	215					C	27420565	G	C	27420565	3	2	482	1	0	0	0	0	1	0	0	0	17748	1203	42	4	1486	4	ZNF184	6	27420565	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		27420565	143694502	10	39181											
RRAGD	58528	broad.mit.edu	37	chr6	90097209	90097210	+	Frame_Shift_Del	DEL	AA	AA	-													tcgttgggagacattttgtgAaagacaactttctgaataga							TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:90097209_90097210delAA	ENST00000369415.4	-	2	524_525	c.248_249delTT	c.(247-249)tttfs	p.F83fs	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ACATTTTGTGAAAGACAACTTT	0.465																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(247-249)tfs		Ras-related GTP binding D																																				SO:0001589	frameshift_variant	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097209_90097210delAA	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.248_249delTT	6.37:g.90097209_90097210delAA	ENSP00000358423:p.Phe83fs					RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	p.F83fs	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	524_525	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	83						Frame_Shift_Del	DEL	ENST00000369415.4	37	c.248_249delTT	CCDS5022.1																																																																																				0.465	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		208	395						208	395	---	---	---	---	-	90097210	AA	-	90097209	7	5	482	1	0	1	0	1	0	0	0	0	13675	243	9	0	977	0	RRAGD	6	90097209	Frame_Shift_Del	DEL	AA	TCGA-TQ-A7RI-01A-11D-A33T-08	62676644	90097209	81017858	11	39182											
MGAM	8972	broad.mit.edu	37	chr7	141754687	141754687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgggattgaaattcgccGgaagagtacaggcactataa	11	6	0	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr7:141754687G>A	ENST00000549489.2	+	27	3388	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R1098Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1098	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)	p.R1098Q(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAATTCGCCGGAAGAGTACA	0.502																																						ENST00000475668.2																			1	Substitution - Missense(1)	p.R1098Q(1)	large_intestine(1)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3292-3294)cGg>cAg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						69	66	67					7																	141754687		1870	4094	5964	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754687G>A	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.3293G>A	7.37:g.141754687G>A	ENSP00000447378:p.Arg1098Gln					MGAM_ENST00000549489.2_Missense_Mutation_p.R1098Q	p.R1098Q			O43451	MGA_HUMAN			27	3347	+	Melanoma(164;0.0272)		1098			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3293G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997028	0.54147	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.33438	1.41	4.24	4.24	0.50183	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.34338	N	0.004050	T	0.70298	0.3208	H	0.97852	4.09	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.71912	-0.4449	10	0.87932	D	0	.	15.3761	0.74607	0.0:0.0:1.0:0.0	.	1098	O43451	MGA_HUMAN	Q	1098;1098;975	ENSP00000447378:R1098Q	ENSP00000316431:R975Q	R	+	2	0	MGAM	141401156	0.998000	0.40836	0.021000	0.16686	0.014000	0.08584	8.923000	0.92808	1.890000	0.54733	0.460000	0.39030	CGG		0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	167	0	0	0	1	0	4	167					A	141754687	G	A	141754687	3	1	482	1	0	0	0	0	1	0	0	0	9541	1116	39	1	3395	1	MGAM	7	141754687	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		141754687	17383976	12	39183											
ADAM7	8756	broad.mit.edu	37	chr8	24300025	24300025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggtcaacaactggttcGtcctaaaaagcttcctctga	9	10	2	2	rs375491503		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:24300025G>A	ENST00000175238.6	+	2	175	c.92G>A	c.(91-93)cGt>cAt	p.R31H	ADAM7_ENST00000380789.1_Missense_Mutation_p.R31H|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	31			R -> C (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)		CAACTGGTTCGTCCTAAAAAG	0.403																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(91-93)cGt>cAt		ADAM metallopeptidase domain 7		G	HIS/ARG	0,4406		0,0,2203	219	213	215		92	-2.8	0	8		215	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM7	NM_003817.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	31/755	24300025	1,13005	2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24300025G>A	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.92G>A	8.37:g.24300025G>A	ENSP00000175238:p.Arg31His					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R31H|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31H	p.R31H	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	2	175	+		Prostate(55;0.0181)	31					A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.92G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	4.639	0.118795	0.08881	0.0	1.16E-4	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.05786	3.39;3.39;3.39	4.23	-2.84	0.05751	Peptidase M12B, propeptide (1);	1.206810	0.06086	N	0.662833	T	0.02610	0.0079	N	0.04373	-0.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44877	-0.9299	10	0.31617	T	0.26	.	2.859	0.05580	0.4029:0.0:0.2802:0.3168	.	31;31	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	H	31	ENSP00000393073:R31H;ENSP00000175238:R31H;ENSP00000370166:R31H	ENSP00000175238:R31H	R	+	2	0	ADAM7	24355970	0.936000	0.31750	0.042000	0.18584	0.293000	0.27360	0.222000	0.17699	-0.489000	0.06716	-1.486000	0.00981	CGT		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		6	349	0	0	0	1	0	6	349					A	24300025	G	A	24300025	3	1	482	1	0	0	0	0	1	0	0	0	251	1145	40	1	98	1	ADAM7	8	24300025	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		24300025	122063997	13	39184											
PXDNL	137902	broad.mit.edu	37	chr8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaagagcatgcagggcGcgtgggtgccccgggggtcg	21	11	0	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					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)				CATGCAGGGCGCGTGGGTGCC	0.682																																						ENST00000356297.4																			0				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						c.(2569-2571)gCg>gTg		peroxidasin homolog (Drosophila)-like							19	23	22					8																	52321614		2025	4143	6168	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321614G>A		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.2570C>T	8.37:g.52321614G>A	ENSP00000348645:p.Ala857Val					PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	p.A857V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2670	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	857					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2570C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	7.521	0.656623	0.14580	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.49	0.493	0.16878	.	0.753446	0.11213	N	0.587551	T	0.38746	0.1052	N	0.11756	0.17	0.09310	N	1	P	0.37398	0.593	B	0.29862	0.108	T	0.15009	-1.0452	10	0.30854	T	0.27	.	4.9674	0.14098	0.2166:0.1744:0.609:0.0	.	857	A1KZ92	PXDNL_HUMAN	V	857	ENSP00000348645:A857V;ENSP00000444865:A857V	ENSP00000348645:A857V	A	-	2	0	PXDNL	52484167	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	3.338000	0.52128	-0.162000	0.10964	-1.087000	0.02190	GCG		0.682	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	74	0	0	0	1	0	8	74					A	52321614	G	A	52321614	3	1	482	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1849	1	PXDNL	8	52321614	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	28021589	52321614	94042408	14	39185											
DAPK1	1612	broad.mit.edu	37	chr9	90283584	90283584	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtctccttgcaagacttCgaaaggtgagaagttctgtt	11	8	2	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr9:90283584C>T	ENST00000408954.3	+	19	2331	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R666*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCAAGACTTCGAAAGGTGAG	0.423									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1996-1998)Cga>Tga		death-associated protein kinase 1							238	242	241					9																	90283584		1901	4118	6019	SO:0001587	stop_gained	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90283584C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1996C>T	9.37:g.90283584C>T	ENSP00000386135:p.Arg666*					DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R666*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*	p.R666*			P53355	DAPK1_HUMAN			19	2371	+			666					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.1996C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	40	8.276887	0.98740	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	4.73	1.56	0.23342	.	0.000000	0.40144	N	0.001164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	11.0097	0.47654	0.5896:0.4104:0.0:0.0	.	.	.	.	X	666	.	ENSP00000350785:R666X	R	+	1	2	DAPK1	89473404	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	1.596000	0.36718	0.658000	0.30925	-0.448000	0.05591	CGA		0.423	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		23	270	0	0	0	1	0	23	270					T	90283584	C	T	90283584	4	4	482	1	0	0	0	0	0	1	0	0	4235	876	31	1	2066	1	DAPK1	9	90283584	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		90283584	50929847	15	39186											
VIM	7431	broad.mit.edu	37	chr10	17277216	17277216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggaagagaactttgccGttgaagctgctaactaccaa	9	8	0	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr10:17277216G>A	ENST00000224237.5	+	6	1202	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.V353I			P08670	VIME_HUMAN	vimentin	353	Coil 2.|Rod.				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)			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						GAACTTTGCCGTTGAAGCTGC	0.483																																						ENST00000544301.1																			0				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						c.(1057-1059)Gtt>Att		vimentin							129	112	117					10																	17277216		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277216G>A	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.1057G>A	10.37:g.17277216G>A	ENSP00000224237:p.Val353Ile					VIM_ENST00000224237.5_Missense_Mutation_p.V353I	p.V353I	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1470	+			353			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1057G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507634	0.27036	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.88664	-2.41;-2.41	5.91	1.72	0.24424	Filament (1);	0.170991	0.27270	N	0.020121	T	0.78836	0.4346	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.15719	0.014;0.011;0.012;0.014	B;B;B;B	0.18561	0.013;0.008;0.022;0.013	T	0.62011	-0.6944	10	0.25106	T	0.35	.	10.8	0.46483	0.1262:0.47:0.4038:0.0	.	353;340;353;353	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	I	353;353;340	ENSP00000446007:V353I;ENSP00000224237:V353I	ENSP00000224237:V353I	V	+	1	0	VIM	17317222	0.563000	0.26594	0.003000	0.11579	0.982000	0.71751	0.756000	0.26419	0.032000	0.15435	0.643000	0.83706	GTT		0.483	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		4	135	0	0	0	1	0	4	135					A	17277216	G	A	17277216	3	1	482	1	0	0	0	0	1	0	0	0	17163	1145	40	1	1079	1	VIM	10	17277216	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		17277216	118257531	16	39187											
ZNF214	7761	broad.mit.edu	37	chr11	7024038	7024039	+	Frame_Shift_Del	DEL	AT	AT	-													actcctcccatgtaaaaataAtagtcacatcttcaaatgtt							TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:7024038_7024039delAT	ENST00000278314.4	-	2	343_344	c.28_29delAT	c.(28-30)attfs	p.I11fs	ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	11	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)		TGTAAAAATAATAGTCACATCT	0.381																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				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						c.(28-30)tfs		zinc finger protein 214																																				SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7024038_7024039delAT	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.28_29delAT	11.37:g.7024038_7024039delAT	ENSP00000278314:p.Ile11fs					ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs	p.I11fs	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	2	343_344	-			11			KRAB.		B2R8Q1	Frame_Shift_Del	DEL	ENST00000278314.4	37	c.28_29delAT	CCDS31418.1																																																																																				0.381	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			60	119						60	119	---	---	---	---	-	7024039	AT	-	7024038	7	5	482	1	0	1	0	1	0	0	0	0	17767	101	4	0	1799	0	ZNF214	11	7024038	Frame_Shift_Del	DEL	AT	TCGA-TQ-A7RI-01A-11D-A33T-08		7024038	127982478	17	39188											
MADD	8567	broad.mit.edu	37	chr11	47303193	47303193	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttcatgagggccaggAgatcccccttctcttgggaa	11	10	2	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:47303193A>G	ENST00000311027.5	+	8	1523	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000342922.4_Missense_Mutation_p.E453G|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G	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)		GAGGGCCAGGAGATCCCCCTT	0.498																																						ENST00000342922.4																			0				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						c.(1357-1359)gAg>gGg		MAP-kinase activating death domain							112	97	102					11																	47303193		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47303193A>G	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.1358A>G	11.37:g.47303193A>G	ENSP00000310933:p.Glu453Gly					MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G|MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000311027.5_Missense_Mutation_p.E453G	p.E453G	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	8	1715	+			453						Missense_Mutation	SNP	ENST00000311027.5	37	c.1358A>G	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701648	0.88924	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06687	3.39;3.29;3.29;3.37;3.38;3.27;3.29;3.37;3.39	5.83	5.83	0.93111	.	0.097898	0.64402	D	0.000001	T	0.12178	0.0296	N	0.14661	0.345	0.80722	D	1	B;B;P;P;B;P;P;P;B;B	0.52061	0.349;0.021;0.837;0.481;0.022;0.481;0.486;0.95;0.021;0.043	B;B;B;B;B;B;B;P;B;B	0.55577	0.108;0.02;0.356;0.217;0.037;0.217;0.268;0.779;0.017;0.053	T	0.19614	-1.0300	10	0.42905	T	0.14	-14.7837	16.2016	0.82087	1.0:0.0:0.0:0.0	.	453;453;453;453;453;453;453;453;453;453	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	G	453	ENSP00000343902:E453G;ENSP00000385585:E453G;ENSP00000384435:E453G;ENSP00000304505:E453G;ENSP00000310933:E453G;ENSP00000384204:E453G;ENSP00000378753:E453G;ENSP00000378745:E453G;ENSP00000384287:E453G	ENSP00000310933:E453G	E	+	2	0	MADD	47259769	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.825000	0.92029	2.235000	0.73313	0.459000	0.35465	GAG		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			9	114	0	0	0	1	0	9	114					G	47303193	A	G	47303193	3	3	482	1	0	0	0	0	1	0	0	0	9152	304	11	3	1384	3	MADD	11	47303193	Missense_Mutation	SNP	A	TCGA-TQ-A7RI-01A-11D-A33T-08	40279155	47303193	87703323	18	39189											
ZDHHC24	254359	broad.mit.edu	37	chr11	66307297	66307297	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccagagacactctgccTgcaataaaagagcagagagg	12	9	1	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:66307297T>C	ENST00000310442.3	-	3	794		c.e3-2		ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank|CTD-3074O7.12_ENST00000602427.1_lincRNA	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						ACACTCTGCCTGCAATAAAAG	0.637																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.e3-2		zinc finger, DHHC-type containing 24							18	20	20					11																	66307297		2199	4294	6493	SO:0001630	splice_region_variant	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307297T>C	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.560-2A>G	11.37:g.66307297T>C						ZDHHC24_ENST00000526986.1_Intron		NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	794	-								Q6PEW7|Q9BSJ0	Splice_Site	SNP	ENST00000310442.3	37		CCDS8143.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014422	0.35511	.	.	ENSG00000174165	ENST00000310442	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5531	0.50731	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZDHHC24	66063873	1.000000	0.71417	0.983000	0.44433	0.109000	0.19521	6.216000	0.72212	1.970000	0.57323	0.459000	0.35465	.		0.637	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340	Intron	15	33	0	0	0	1	0	15	33					C	66307297	T	C	66307297	5	2	482	1	0	0	0	0	0	0	1	0	17612	1594	55	3	300	3	ZDHHC24	11	66307297	Splice_Site	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	19004104	66307297	68699219	19	39190											
CD163L1	283316	broad.mit.edu	37	chr12	7528426	7528426	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagttagaccattcccTtttccaaagtgatctcccac	5	15	1	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:7528426T>G	ENST00000313599.3	-	10	2613	c.2556A>C	c.(2554-2556)aaA>aaC	p.K852N	CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	852	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCATTCCCTTTTCCAAAGT	0.448																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2554-2556)aaA>aaC		CD163 molecule-like 1							120	108	112					12																	7528426		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528426T>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2556A>C	12.37:g.7528426T>G	ENSP00000315945:p.Lys852Asn					CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000544331.1_5'UTR	p.K852N			Q9NR16	C163B_HUMAN			10	2613	-			852			SRCR 8.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2556A>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	9.381	1.073018	0.20147	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35973	1.28;1.28;1.28	2.84	1.62	0.23740	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.982847	0.08260	N	0.973226	T	0.23846	0.0577	N	0.20610	0.595	0.09310	N	0.999994	B;B	0.20261	0.043;0.043	B;B	0.25987	0.038;0.065	T	0.32188	-0.9916	10	0.39692	T	0.17	.	5.5243	0.16949	0.4552:0.0:0.0:0.5448	.	862;852	E7EVK4;Q9NR16	.;C163B_HUMAN	N	852;862;852	ENSP00000315945:K852N;ENSP00000393474:K862N;ENSP00000379871:K852N	ENSP00000315945:K852N	K	-	3	2	CD163L1	7419693	0.000000	0.05858	0.013000	0.15412	0.036000	0.12997	-0.151000	0.10175	0.287000	0.22375	0.374000	0.22700	AAA		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		55	91	0	0	0	1	0	55	91					G	7528426	T	G	7528426	3	3	482	1	0	0	0	0	1	0	0	0	2968	1606	56	5	1845	5	CD163L1	12	7528426	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		7528426	126323469	20	39191											
TMTC1	83857	broad.mit.edu	37	chr12	29786175	29786175	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcccatatggtctctaccaGaggaatactgccgacctgcc	9	14	1	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:29786175G>T	ENST00000539277.1	-	6	1091	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000256062.5_Missense_Mutation_p.L237M|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	345						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTCTCTACCAGAGGAATACTG	0.502																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(709-711)Ctg>Atg		transmembrane and tetratricopeptide repeat containing 1							118	102	107					12																	29786175		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29786175G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1033C>A	12.37:g.29786175G>T	ENSP00000442046:p.Leu345Met					TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M|TMTC1_ENST00000539277.1_Missense_Mutation_p.L345M|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M|TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000319685.8_5'UTR	p.L237M	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			6	1182	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		345					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.709C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	15.35	2.807298	0.50421	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.53	2.67	0.31697	Domain of unknown function DUF1736 (1);	0.000000	0.64402	D	0.000002	T	0.72882	0.3516	M	0.84433	2.695	0.34033	D	0.654085	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.986;0.999	T	0.82070	-0.0639	9	.	.	.	-16.3348	12.9252	0.58257	0.1979:0.0:0.8021:0.0	.	299;345;407	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	M	108;237;407;407;345;299	ENSP00000256062:L237M;ENSP00000448112:L407M;ENSP00000449043:L407M;ENSP00000442046:L345M;ENSP00000370622:L299M	.	L	-	1	2	TMTC1	29677442	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.914000	0.39966	0.701000	0.31803	-0.797000	0.03246	CTG		0.502	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		42	69	1	0	1.57019e-19	1	1.72464e-19	42	69					T	29786175	G	T	29786175	3	4	482	1	0	0	0	0	1	0	0	0	16257	933	33	4	1667	4	TMTC1	12	29786175	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	22257749	29786175	104065720	21	39192											
CHST11	50515	broad.mit.edu	37	chr12	104851291	104851294	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													ctggtcatcttctatttccaAagtatgttgcacccaggtag							TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:104851291_104851294delAAGT	ENST00000303694.5	+	1	541_544	c.102_105delAAGT	c.(100-105)caaagtfs	p.QS34fs	CHST11_ENST00000546689.1_Splice_Site_p.S35fs|CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs|CHST11_ENST00000549260.1_Splice_Site_p.S35fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	34					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCTATTTCCAAAGTATGTTGCACC	0.52																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(100-105)cafs		carbohydrate (chondroitin 4) sulfotransferase 11																																				SO:0001589	frameshift_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:104851291_104851294delAAGT	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.102_105delAAGT	12.37:g.104851291_104851294delAAGT	ENSP00000305725:p.Gln34fs					CHST11_ENST00000549260.1_Splice_Site_p.Q34_splice|CHST11_ENST00000546689.1_Splice_Site_p.Q34_splice|CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs	p.QS34fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			1	541_544	+			34					A8K4F8|Q9NXY6|Q9NY36	Frame_Shift_Del	DEL	ENST00000303694.5	37	c.102_105delAAGT	CCDS9099.1																																																																																				0.52	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		8	294						8	294	---	---	---	---	-	104851294	AAGT	-	104851291	7	5	482	1	0	1	0	1	0	0	0	0	3399	28	1	0	104	0	CHST11	12	104851291	Frame_Shift_Del	DEL	AAGT	TCGA-TQ-A7RI-01A-11D-A33T-08	75065116	104851291	29000604	22	39193											
TMTC4	84899	broad.mit.edu	37	chr13	101294550	101294550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaggtggaagaatgcGctccctccttgttacctgcc	10	14	0	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr13:101294550G>A	ENST00000376234.3	-	6	788	c.599C>T	c.(598-600)gCg>gTg	p.A200V	TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.A219V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGAATGCGCTCCCTCCTT	0.468																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(655-657)gCg>gTg		transmembrane and tetratricopeptide repeat containing 4							123	132	129					13																	101294550		2052	4185	6237	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101294550G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.599C>T	13.37:g.101294550G>A	ENSP00000365408:p.Ala200Val					TMTC4_ENST00000376234.3_Missense_Mutation_p.A200V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V	p.A219V	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			7	914	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		200					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.656C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	5.821	0.335831	0.11013	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.61627	0.11;0.09;1.07	5.72	4.88	0.63580	.	0.781737	0.12552	N	0.458967	T	0.34890	0.0913	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.0	T	0.16041	-1.0416	10	0.12103	T	0.63	.	10.7373	0.46133	0.0699:0.0:0.7922:0.1379	.	89;200;219	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	V	200;219;89	ENSP00000365408:A200V;ENSP00000343871:A219V;ENSP00000365409:A89V	ENSP00000365409:A89V	A	-	2	0	TMTC4	100092551	0.007000	0.16637	0.008000	0.14137	0.239000	0.25481	1.233000	0.32648	1.435000	0.47434	-0.217000	0.12591	GCG		0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		68	106	0	0	0	1	0	68	106					A	101294550	G	A	101294550	3	1	482	1	0	0	0	0	1	0	0	0	16260	1087	38	1	1678	1	TMTC4	13	101294550	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		101294550	13875328	23	39194											
IPO4	79711	broad.mit.edu	37	chr14	24655922	24655922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacttaccttgctctTgactttgaccaagaaagtga	7	11	2	4			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr14:24655922T>C	ENST00000354464.6	-	9	1008	c.832A>G	c.(832-834)Aag>Gag	p.K278E	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	278					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)		ACCTTGCTCTTGACTTTGACC	0.493																																						ENST00000354464.6																			0				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						c.(832-834)Aag>Gag		importin 4							87	90	89					14																	24655922		2054	4192	6246	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655922T>C	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.832A>G	14.37:g.24655922T>C	ENSP00000346453:p.Lys278Glu					RP11-468E2.2_ENST00000561419.1_3'UTR	p.K278E	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	9	1008	-			278					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.832A>G	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526438	0.85600	.	.	ENSG00000196497	ENST00000354464	T	0.04275	3.66	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.127203	0.51477	D	0.000094	T	0.15739	0.0379	L	0.57536	1.79	0.58432	D	0.999999	P	0.51449	0.945	P	0.61477	0.889	T	0.00152	-1.1984	10	0.62326	D	0.03	-20.6183	13.9355	0.64023	0.0:0.0:0.0:1.0	.	278	Q8TEX9	IPO4_HUMAN	E	278	ENSP00000346453:K278E	ENSP00000346453:K278E	K	-	1	0	IPO4	23725762	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.083000	0.71326	2.174000	0.68829	0.533000	0.62120	AAG		0.493	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		31	30	0	0	0	1	0	31	30					C	24655922	T	C	24655922	3	2	482	1	0	0	0	0	1	0	0	0	7795	1821	63	3	2501	3	IPO4	14	24655922	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		24655922	82693618	24	39195											
CCDC135	84229	broad.mit.edu	37	chr16	57760786	57760786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagctgctctaccagtacGaggccatgatgcacctgaag	11	11	1	3	rs141535311		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr16:57760786G>A	ENST00000360716.3	+	15	2238	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K			Q8IY82	CC135_HUMAN		673					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTACCAGTACGAGGCCATGAT	0.582																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2017-2019)Gag>Aag		coiled-coil domain containing 135							75	66	69					16																	57760786		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57760786G>A																												ENST00000360716.3:c.2017G>A	16.37:g.57760786G>A	ENSP00000353942:p.Glu673Lys					CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K	p.E673K			Q8IY82	CC135_HUMAN			15	2238	+			673					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2017G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527758	0.44969	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10477	3.04;2.87;3.04	5.2	4.23	0.50019	.	0.445879	0.23676	N	0.045662	T	0.12135	0.0295	L	0.59912	1.85	0.35445	D	0.795219	P;P	0.50617	0.937;0.898	B;B	0.43623	0.425;0.168	T	0.28235	-1.0050	10	0.22109	T	0.4	-32.4249	9.0514	0.36378	0.0821:0.1513:0.7666:0.0	.	608;673	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	673;608;673	ENSP00000377869:E673K;ENSP00000338938:E608K;ENSP00000353942:E673K	ENSP00000338938:E608K	E	+	1	0	CCDC135	56318287	0.999000	0.42202	0.956000	0.39512	0.757000	0.42996	3.340000	0.52143	1.186000	0.42985	-0.428000	0.05917	GAG		0.582	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			17	34	0	0	0	1	0	17	34					A	57760786	G	A	57760786	3	1	482	1	0	0	0	0	1	0	0	0	2769	1059	37	1	2067	1	CCDC135	16	57760786	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		57760786	32593967	25	39196											
NF1	4763	broad.mit.edu	37	chr17	29553521	29553521	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cagaccaaactagaagtggcCctgtacatgtttctgtggaa	10	9	1	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553521C>G	ENST00000358273.4	+	18	2453	c.2070C>G	c.(2068-2070)gcC>gcG	p.A690A	NF1_ENST00000356175.3_Silent_p.A690A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	690					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.?(4)	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)		TAGAAGTGGCCCTGTACATGT	0.542			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	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						c.(2068-2070)gcC>gcG		neurofibromin 1							73	76	75					17																	29553521		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553521C>G		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.2070C>G	17.37:g.29553521C>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.A690A	p.A690A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	18	2453	+		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)	690					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2070C>G	CCDS42292.1																																																																																				0.542	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	115	0	0	0	1	0	4	115					G	29553521	C	G	29553521	2	3	482	1	0	0	0	0	0	0	0	1	10356	610	22	4		4	NF1	17	29553521	Silent	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		29553521	51641689	26	39197			1	51		2	2	30	C		3.559741e-05
NF1	4763	broad.mit.edu	37	chr17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtttctgtggaaccctgacaCtgaagctgttctggttgcca	11	10	2	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					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.?(4)|p.T700S(1)	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)		AACCCTGACACTGAAGCTGTT	0.552			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	p.0?(8)|p.?(4)|p.T700S(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|NS(1)	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						c.(2098-2100)aCt>aGt		neurofibromin 1							89	88	88					17																	29553550		2203	4299	6502	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553550C>G		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.2099C>G	17.37:g.29553550C>G	ENSP00000351015:p.Thr700Ser	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T700S	p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	18	2482	+		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)	700					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2099C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635717	0.47049	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.63580	-0.05;-0.05;2.98	5.69	4.64	0.57946	Armadillo-type fold (1);	0.156674	0.56097	D	0.000023	T	0.46308	0.1386	L	0.27053	0.805	0.80722	D	1	B;B;B	0.18863	0.031;0.008;0.0	B;B;B	0.18561	0.021;0.022;0.003	T	0.35968	-0.9767	10	0.30078	T	0.28	.	10.2392	0.43301	0.0:0.8542:0.0:0.1458	.	700;700;700	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	S	700;700;366	ENSP00000351015:T700S;ENSP00000348498:T700S;ENSP00000389907:T366S	ENSP00000348498:T700S	T	+	2	0	NF1	26577676	0.998000	0.40836	0.999000	0.59377	0.985000	0.73830	2.763000	0.47605	2.679000	0.91253	0.650000	0.86243	ACT		0.552	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	144	0	0	0	1	0	5	144					G	29553550	C	G	29553550	3	3	482	1	0	0	0	0	1	0	0	0	10356	565	20	4	2230	4	NF1	17	29553550	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	29	29553550	51641660	27	39198			1	51		2	2	30	C		3.559741e-05
NF1	4763	broad.mit.edu	37	chr17	29654675	29654675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcaaaccagggcacgccGctcaccttcatgcaccagga	9	15	2	0			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29654675G>A	ENST00000358273.4	+	38	5810	c.5427G>A	c.(5425-5427)ccG>ccA	p.P1809P	NF1_ENST00000356175.3_Silent_p.P1788P|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1809	Lipid binding.				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.?(3)	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)		AGGGCACGCCGCTCACCTTCA	0.478			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	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						c.(5425-5427)ccG>ccA		neurofibromin 1							137	130	132					17																	29654675		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654675G>A		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.5427G>A	17.37:g.29654675G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.P1788P	p.P1809P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	38	5810	+		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)	1809					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.5427G>A	CCDS42292.1																																																																																				0.478	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	179	0	0	0	1	0	4	179					A	29654675	G	A	29654675	2	1	482	1	0	0	0	0	0	0	0	1	10356	1074	38	1		1	NF1	17	29654675	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	101125	29654675	51540535	28	39199											
NCAN	1463	broad.mit.edu	37	chr19	19338812	19338812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggctggatgcaagttccCcatctgcccccctggggagc	13	14	1	0			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:19338812C>T	ENST00000252575.6	+	8	2482	c.2383C>T	c.(2383-2385)Cca>Tca	p.P795S	NCAN_ENST00000538881.1_Missense_Mutation_p.P246S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	795					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)	TGCAAGTTCCCCATCTGCCCC	0.577																																						ENST00000252575.5																			0				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						c.(2383-2385)Cca>Tca		neurocan							47	54	52					19																	19338812		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338812C>T	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.2383C>T	19.37:g.19338812C>T	ENSP00000252575:p.Pro795Ser					NCAN_ENST00000538881.1_Missense_Mutation_p.P246S	p.P795S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2426	+			795					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2383C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	3.742	-0.053360	0.07362	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85339	-1.78;-1.97	3.93	0.593	0.17478	.	0.876565	0.09489	N	0.795197	T	0.68586	0.3017	N	0.24115	0.695	0.09310	N	1	B;B	0.18461	0.027;0.028	B;B	0.18263	0.021;0.015	T	0.52457	-0.8573	10	0.07030	T	0.85	-0.1236	3.486	0.07619	0.1991:0.5861:0.0:0.2147	.	809;795	Q4LE67;O14594	.;NCAN_HUMAN	S	809;795;246	ENSP00000252575:P795S;ENSP00000442202:P246S	ENSP00000252575:P795S	P	+	1	0	NCAN	19199812	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.281000	0.02802	0.247000	0.21414	0.561000	0.74099	CCA		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	148	0	0	0	1	0	4	148					T	19338812	C	T	19338812	3	4	482	1	0	0	0	0	1	0	0	0	10204	623	22	2	2409	2	NCAN	19	19338812	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		19338812	39790171	29	39200											
CIC	23152	broad.mit.edu	37	chr19	42790954	42790955	+	Frame_Shift_Del	DEL	TG	TG	-													gtggaacctcgctctgtggcTgtgttcccttggcactcctt							TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42790954_42790955delTG	ENST00000575354.2	+	2	139_140	c.99_100delTG	c.(97-102)gctgtgfs	p.V34fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V943fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V34fs|CIC_ENST00000575839.2_3'UTR	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	34	Interaction with ATXN1. {ECO:0000250}.				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)				GCTCTGTGGCTGTGTTCCCTTG	0.644			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(2824-2829)gctgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42790954_42790955delTG	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.99_100delTG	19.37:g.42790956_42790957delTG	ENSP00000458663:p.Val34fs					CIC_ENST00000575839.2_3'UTR|CIC_ENST00000160740.3_Frame_Shift_Del_p.AV33fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.AV33fs	p.AV942fs			Q96RK0	CIC_HUMAN			3	2894_2895	+		Prostate(69;0.00682)	33			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.2826_2827delTG	CCDS12601.1																																																																																				0.644	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	52						18	52	---	---	---	---	-	42790955	TG	-	42790954	7	5	482	1	0	1	0	1	0	0	0	0	3424	1567	55	0	105	0	CIC	19	42790954	Frame_Shift_Del	DEL	TG	TCGA-TQ-A7RI-01A-11D-A33T-08	23452142	42790954	16338029	30	39201											
CIC	23152	broad.mit.edu	37	chr19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggggcccaaggagaagCagaagtaccacgacctggcc	13	14	0	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42791853C>T	ENST00000575354.2	+	5	779	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1156*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247					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)				CAAGGAGAAGCAGAAGTACCA	0.632			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3466-3468)Cag>Tag		capicua transcriptional repressor							80	72	75					19																	42791853		2203	4300	6503	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791853C>T	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.739C>T	19.37:g.42791853C>T	ENSP00000458663:p.Gln247*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*	p.Q1156*			Q96RK0	CIC_HUMAN			6	3534	+		Prostate(69;0.00682)	247			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.3466C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	41	8.861012	0.98980	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.5875	14.5138	0.67807	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000160740:Q247X	Q	+	1	0	CIC	47483693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.384000	0.66225	2.284000	0.76573	0.555000	0.69702	CAG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	76	0	0	0	1	0	5	76					T	42791853	C	T	42791853	4	4	482	1	0	0	0	0	0	1	0	0	3424	711	25	2	757	2	CIC	19	42791853	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	899	42791853	16337130	31	39202											
KIR3DL3	115653	broad.mit.edu	37	chr19	55247442	55247442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atttccctccctccaggactCtgatgaacaagaccctcagg	7	15	2	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:55247442C>G	ENST00000291860.1	+	8	1130	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_5'Flank|KIR2DL3_ENST00000342376.3_5'Flank	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	371						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCAGGACTCTGATGAACAA	0.537																																						ENST00000291860.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21						c.(1111-1113)tCt>tGt		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3							37	44	42					19																	55247442		1823	3821	5644	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247442C>G	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1112C>G	19.37:g.55247442C>G	ENSP00000291860:p.Ser371Cys					CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron	p.S371C	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1130	+			371					A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.1112C>G	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.244973	0.22796	.	.	ENSG00000242019	ENST00000291860	T	0.00493	7.0	1.08	-2.16	0.07080	.	24.772900	0.00166	U	0.000005	T	0.01523	0.0049	M	0.91300	3.195	0.09310	N	1	D	0.58970	0.984	P	0.54965	0.765	T	0.43491	-0.9388	10	0.87932	D	0	.	2.5911	0.04843	0.0:0.4502:0.3086:0.2413	.	371	Q8N743	KI3L3_HUMAN	C	371	ENSP00000291860:S371C	ENSP00000291860:S371C	S	+	2	0	KIR3DL3	59939254	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.119000	0.10676	-0.557000	0.06126	0.184000	0.17185	TCT		0.537	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		4	155	0	0	0	1	0	4	155					G	55247442	C	G	55247442	3	3	482	1	0	0	0	0	1	0	0	0	8322	913	32	4	1142	4	KIR3DL3	19	55247442	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	12455589	55247442	3881541	32	39203											
FASTKD5	60493	broad.mit.edu	37	chr20	3129656	3129656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcggactgcaccaaaggCagaaggactgcaaaatgctc	10	11	0	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr20:3129656C>A	ENST00000380266.3	-	2	382	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	21					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						GCACCAAAGGCAGAAGGACTG	0.478																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(61-63)Gcc>Tcc		FAST kinase domains 5							107	102	104					20																	3129656		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129656C>A	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.61G>T	20.37:g.3129656C>A	ENSP00000369618:p.Ala21Ser					UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	p.A21S	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	382	-			21					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.61G>T	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193702	0.38707	.	.	ENSG00000215251	ENST00000380266	T	0.20881	2.04	5.08	0.94	0.19513	.	2.205500	0.02131	N	0.056367	T	0.18087	0.0434	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.27297	-1.0078	10	0.62326	D	0.03	.	5.435	0.16476	0.0:0.6198:0.1449:0.2353	.	21	Q7L8L6	FAKD5_HUMAN	S	21	ENSP00000369618:A21S	ENSP00000369618:A21S	A	-	1	0	FASTKD5	3077656	0.992000	0.36948	0.005000	0.12908	0.033000	0.12548	0.532000	0.23067	0.039000	0.15632	0.462000	0.41574	GCC		0.478	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		4	162	1	0	0.150653	1	0.150653	4	162					A	3129656	C	A	3129656	3	1	482	1	0	0	0	0	1	0	0	0	5688	710	25	4	2237	4	FASTKD5	20	3129656	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		3129656	59895864	33	39204											
ZNF74	7625	broad.mit.edu	37	chr22	20761037	20761037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaactggagctcgcacctcActgagcaccagaggctgcac	10	15	2	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:20761037A>G	ENST00000400451.2	+	5	2228	c.1714A>G	c.(1714-1716)Act>Gct	p.T572A	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	572					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCGCACCTCACTGAGCACCA	0.542																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1714-1716)Act>Gct		zinc finger protein 74							53	60	58					22																	20761037		2138	4275	6413	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761037A>G	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1714A>G	22.37:g.20761037A>G	ENSP00000383301:p.Thr572Ala					ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A	p.T572A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2228	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	572					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1714A>G	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	A	4.939	0.174408	0.09391	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.51325	0.71;0.71;0.71	4.27	-8.54	0.00912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.405350	0.00744	N	0.001023	T	0.34221	0.0890	L	0.39514	1.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	10	0.39692	T	0.17	1.9454	6.1049	0.20067	0.1306:0.3266:0.4748:0.0681	.	572	Q16587	ZNF74_HUMAN	A	572;572;540	ENSP00000383301:T572A;ENSP00000349098:T572A;ENSP00000385855:T540A	ENSP00000349098:T572A	T	+	1	0	ZNF74	19091037	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.426000	0.00475	-3.239000	0.00207	-1.046000	0.02355	ACT		0.542	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		50	66	0	0	0	1	0	50	66					G	20761037	A	G	20761037	3	3	482	1	0	0	0	0	1	0	0	0	18124	159	6	3	1732	3	ZNF74	22	20761037	Missense_Mutation	SNP	A	TCGA-TQ-A7RI-01A-11D-A33T-08		20761037	30543529	34	39205											
LGALS1	3956	broad.mit.edu	37	chr22	38073059	38073059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtgcgaggcgaggtggctCctgacgctaagaggtgagaa	18	7	0	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:38073059C>T	ENST00000215909.5	+	2	171	c.76C>T	c.(76-78)Cct>Tct	p.P26S	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	26	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CGAGGTGGCTCCTGACGCTAA	0.657																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(76-78)Cct>Tct		lectin, galactoside-binding, soluble, 1							82	63	69					22																	38073059		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38073059C>T		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"Lectins, galactoside-binding", "Endogenous ligands"	6561	protein-coding gene	gene with protein product	"galectin 1"	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.76C>T	22.37:g.38073059C>T	ENSP00000215909:p.Pro26Ser					LGALS1_ENST00000489315.1_3'UTR	p.P26S	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN			2	171	+	Melanoma(58;0.0574)		26			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.76C>T	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915089	0.17907	.	.	ENSG00000100097	ENST00000215909	T	0.40756	1.02	5.39	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.491092	0.22403	N	0.060515	T	0.31263	0.0791	L	0.36672	1.1	0.33434	D	0.581565	B	0.12013	0.005	B	0.20577	0.03	T	0.32903	-0.9889	10	0.34782	T	0.22	-9.9716	8.9182	0.35594	0.0:0.8242:0.0:0.1758	.	26	P09382	LEG1_HUMAN	S	26	ENSP00000215909:P26S	ENSP00000215909:P26S	P	+	1	0	LGALS1	36403005	0.008000	0.16893	0.955000	0.39395	0.258000	0.26162	0.330000	0.19715	0.738000	0.32606	-0.136000	0.14681	CCT		0.657	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		24	37	0	0	0	1	0	24	37					T	38073059	C	T	38073059	3	4	482	1	0	0	0	0	1	0	0	0	8738	855	30	2	82	2	LGALS1	22	38073059	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	17312022	38073059	13231507	35	39206											
UTP14A	10813	broad.mit.edu	37	chrX	129042694	129042694	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtctgaaggtgtcagagttCaatgtcagttctgaaggtaa	12	5	5	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:129042694C>T	ENST00000394422.3	+	4	250	c.222C>T	c.(220-222)ttC>ttT	p.F74F	UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.F74F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	74					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						TGTCAGAGTTCAATGTCAGTT	0.443																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(220-222)ttC>ttT		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							227	216	220					X																	129042694		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129042694C>T	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.222C>T	X.37:g.129042694C>T						RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.F74F|UTP14A_ENST00000371051.5_Intron	p.F74F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			4	250	+			74					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.222C>T	CCDS14615.1																																																																																				0.443	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		24	550	0	0	0	1	0	24	550					T	129042694	C	T	129042694	2	4	482	1	0	0	0	0	0	0	0	1	17092	825	29	2		2	UTP14A	23	129042694	Silent	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		129042694	26227866	36	39207											
ATP11C	286410	broad.mit.edu	37	chrX	138879424	138879424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacatactttagagtagTgcatactgcagctttggtca	8	9	1	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:138879424T>C	ENST00000327569.3	-	11	1026	c.928A>G	c.(928-930)Act>Gct	p.T310A	ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000370557.1_Missense_Mutation_p.T307A|ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	310					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)					TTTAGAGTAGTGCATACTGCA	0.338																																						ENST00000370557.1																			0				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						c.(919-921)Act>Gct		ATPase, class VI, type 11C							119	111	114					X																	138879424		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138879424T>C	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.928A>G	X.37:g.138879424T>C	ENSP00000332756:p.Thr310Ala					ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A|ATP11C_ENST00000327569.3_Missense_Mutation_p.T310A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A|ATP11C_ENST00000460773.1_5'UTR	p.T307A			Q8NB49	AT11C_HUMAN			11	1946	-	Acute lymphoblastic leukemia(192;0.000127)		310					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.919A>G	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369116	0.82463	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.27	5.27	0.74061	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	L	0.35341	1.055	0.54753	D	0.99998	D;D	0.69078	0.994;0.997	P;D	0.63957	0.869;0.92	D	0.87086	0.2169	10	0.11182	T	0.66	.	13.5262	0.61597	0.0:0.0:0.0:1.0	.	310;310	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	A	307;310;310;310;310	ENSP00000359588:T307A;ENSP00000355165:T310A;ENSP00000332756:T310A;ENSP00000359574:T310A;ENSP00000352715:T310A	ENSP00000332756:T310A	T	-	1	0	ATP11C	138707090	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.655000	0.83696	1.857000	0.53885	0.486000	0.48141	ACT		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		89	139	0	0	0	1	0	89	139					C	138879424	T	C	138879424	3	2	482	1	0	0	0	0	1	0	0	0	1121	1696	59	3	2613	3	ATP11C	23	138879424	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	9836730	138879424	16391136	37	39208											
CETN2	1069	broad.mit.edu	37	chrX	151997187	151997187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagagcttgaaagctTtcaggatttcttctttagta	7	7	4	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:151997187T>C	ENST00000370277.3	-	4	389	c.323A>G	c.(322-324)aAa>aGa	p.K108R	NSDHL_ENST00000440023.1_5'Flank|CETN2_ENST00000493482.1_5'UTR|NSDHL_ENST00000370274.3_5'Flank	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	108	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGAAAGCTTTCAGGATTTC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(322-324)aAa>aGa	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							79	71	74					X																	151997187		2203	4300	6503	SO:0001583	missense	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151997187T>C	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"EF-hand domain containing"	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.323A>G	X.37:g.151997187T>C	ENSP00000359300:p.Lys108Arg					CETN2_ENST00000493482.1_5'UTR	p.K108R	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN			4	389	-	Acute lymphoblastic leukemia(192;6.56e-05)		108			EF-hand 3.		B2R4T4|Q53XW1	Missense_Mutation	SNP	ENST00000370277.3	37	c.323A>G	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423584	0.62733	.	.	ENSG00000147400	ENST00000370277	T	0.37584	1.19	6.17	6.17	0.99709	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	N	0.16478	0.41	0.80722	D	1	B	0.26635	0.155	B	0.26969	0.075	T	0.07121	-1.0789	10	0.56958	D	0.05	.	13.4605	0.61225	0.0:0.0:0.0:1.0	.	108	P41208	CETN2_HUMAN	R	108	ENSP00000359300:K108R	ENSP00000359300:K108R	K	-	2	0	CETN2	151747843	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.882000	0.87258	2.088000	0.63022	0.486000	0.48141	AAA		0.433	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		58	95	0	0	0	1	0	58	95					C	151997187	T	C	151997187	3	2	482	1	0	0	0	0	1	0	0	0	3275	1841	64	3	203	3	CETN2	23	151997187	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	13117763	151997187	3273373	38	39209											
AGRN	375790	broad.mit.edu	37	chr1	978952	978952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgctttggagccctgtgCgaggccgagaccgggcgctg	17	13	0	1	rs142440782		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1636-1638)tgC>tgT		agrin		C		1,4405	2.1+/-5.4	0,1,2202	45	50	48		1638	-7.3	0.9	1	dbSNP_134	48	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	AGRN	NM_198576.3		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		546/2046	978952	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:978952C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1638C>T	1.37:g.978952C>T							p.C546C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	9	1688	+	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)	546			Kazal-like 6.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1638C>T	CCDS30551.1																																																																																				0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		50	72	0	0	0	1	0	50	72					T	978952	C	T	978952	2	4	483	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	978952	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		978952	248271669	1	39210											
KIAA0467	81888	broad.mit.edu	37	chr1	43916044	43916044	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgagagcccttcccagtaCagccccaggacagcgagagc	11	16	0	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:43916044C>G	ENST00000372425.4	-	0	1115				SZT2_ENST00000372442.1_Missense_Mutation_p.Q2499E|SZT2_ENST00000562955.1_Missense_Mutation_p.Q3341E|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTCCCAGTACAGCCCCAGGA	0.622																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(10021-10023)Cag>Gag		seizure threshold 2 homolog (mouse)							177	169	172					1																	43916044		2203	4300	6503	SO:0001628	intergenic_variant	23334					peroxisome		g.chr1:43916044C>G		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43916044C>G						SZT2_ENST00000372442.1_Missense_Mutation_p.Q2499E	p.Q3341E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			71	10021	+			3398					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.10021C>G	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433486	0.62955	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.054865	0.85682	D	0.000000	T	0.62356	0.2421	L	0.40543	1.245	0.31442	N	0.671828	D;D	0.63880	0.984;0.993	P;P	0.57720	0.801;0.826	T	0.62595	-0.6821	9	0.41790	T	0.15	.	20.0309	0.97536	0.0:1.0:0.0:0.0	.	3398;3341	Q5T011;Q5T011-5	SZT2_HUMAN;.	E	2499	.	ENSP00000361519:Q2499E	Q	+	1	0	SZT2	43688631	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	7.350000	0.79385	2.734000	0.93682	0.555000	0.69702	CAG		0.622	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		73	152	0	0	0	1	0	73	152					G	43916044	C	G	43916044	1	3	483	0	1	0	0	0	0	0	0	0	8178	479	17	4		4	KIAA0467	1	43916044	IGR	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	42937092	43916044	205334577	2	39211											
ITGA10	8515	broad.mit.edu	37	chr1	145533526	145533526	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttaagaaagatggggCtgtgagggttgcccagagcc	15	9	0	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:145533526C>G	ENST00000369304.3	+	12	1584	c.1409C>G	c.(1408-1410)gCt>gGt	p.A470G	ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G|ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					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)					AAAGATGGGGCTGTGAGGGTT	0.587																																						ENST00000369304.3																			0				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						c.(1408-1410)gCt>gGt		integrin, alpha 10							41	44	43					1																	145533526		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533526C>G	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.1409C>G	1.37:g.145533526C>G	ENSP00000358310:p.Ala470Gly					ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G	p.A470G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1584	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		470					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1409C>G	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208680	0.22205	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.11604	2.76;2.76;2.76	4.74	3.82	0.43975	.	0.641636	0.15726	N	0.247676	T	0.01421	0.0046	N	0.04090	-0.28	0.25831	N	0.98417	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.0;0.001	T	0.45862	-0.9232	10	0.34782	T	0.22	.	5.9143	0.19045	0.0:0.6985:0.1957:0.1059	.	436;339;327;470	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	G	470;436;327;339	ENSP00000358310:A470G;ENSP00000439894:A327G;ENSP00000440011:A339G	ENSP00000358310:A470G	A	+	2	0	ITGA10	144244883	0.008000	0.16893	1.000000	0.80357	0.998000	0.95712	0.760000	0.26475	1.201000	0.43203	0.655000	0.94253	GCT		0.587	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		5	89	0	0	0	1	0	5	89					G	145533526	C	G	145533526	3	3	483	1	0	0	0	0	1	0	0	0	7873	797	28	4	1455	4	ITGA10	1	145533526	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	101617482	145533526	103717095	3	39212											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	142	0	0	0	1	0	4	142					T	153907309	C	T	153907309	2	4	483	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	8373783	153907309	95343312	4	39213											
SERPINC1	462	broad.mit.edu	37	chr1	173883867	173883867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagttcccagacacgccGgttggtggcctccgggatct	14	13	1	1	rs199469507|rs374205395		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:173883867G>A	ENST00000367698.3	-	2	350	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	78					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CAGACACGCCGGTTGGTGGCC	0.527											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25	GRCh37	CD961789	SERPINC1	D		c.(232-234)Cgg>Tgg		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	G	TRP/ARG	0,4406		0,0,2203	129	129	129		232	5.7	1	1		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINC1	NM_000488.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	78/465	173883867	1,13005	2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883867G>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.232C>T	1.37:g.173883867G>A	ENSP00000356671:p.Arg78Trp		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911	SERPINC1_ENST00000494024.1_5'UTR	p.R78W	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			2	350	-			78					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.232C>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015378	0.93404	0.0	1.16E-4	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82803	-1.65	5.67	5.67	0.87782	Serpin domain (1);	0.064498	0.64402	D	0.000010	T	0.80363	0.4609	L	0.57536	1.79	0.54753	D	0.999989	D	0.61080	0.989	P	0.45119	0.47	T	0.83109	-0.0124	10	0.66056	D	0.02	.	19.7629	0.96329	0.0:0.0:1.0:0.0	.	78	P01008	ANT3_HUMAN	W	78	ENSP00000356671:R78W	ENSP00000307953:R78W	R	-	1	2	SERPINC1	172150490	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.608000	0.82898	2.666000	0.90696	0.561000	0.74099	CGG		0.527	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		14	316	0	0	0	1	0	14	316					A	173883867	G	A	173883867	3	1	483	1	0	0	0	0	1	0	0	0	14109	1115	39	1	1186	1	SERPINC1	1	173883867	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	19976558	173883867	75366754	5	39214											
PLD5	200150	broad.mit.edu	37	chr1	242253223	242253223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttggagaggggtttgagtTtgaacaggcttgagcagttc	16	4	0	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:242253223T>A	ENST00000536534.2	-	10	1785	c.1544A>T	c.(1543-1545)aAa>aTa	p.K515I	PLD5_ENST00000442594.2_Missense_Mutation_p.K423I|PLD5_ENST00000427495.1_Missense_Mutation_p.K453I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	515						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGGTTTGAGTTTGAACAGGCT	0.458																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1267-1269)aAa>aTa		phospholipase D family, member 5							236	226	230					1																	242253223		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253223T>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1544A>T	1.37:g.242253223T>A	ENSP00000440896:p.Lys515Ile					PLD5_ENST00000427495.1_Missense_Mutation_p.K453I|PLD5_ENST00000536534.1_Missense_Mutation_p.K515I	p.K423I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		11	1777	-	Melanoma(84;0.242)		515					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1268A>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575058	0.28092	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.47177	0.88;0.87;0.85	4.94	1.28	0.21552	.	1.025900	0.07725	N	0.944384	T	0.37517	0.1006	L	0.34521	1.04	0.27714	N	0.945374	B;B;B	0.22480	0.015;0.07;0.007	B;B;B	0.25759	0.015;0.063;0.004	T	0.37126	-0.9719	10	0.51188	T	0.08	-3.2095	7.6664	0.28434	0.0:0.2578:0.0:0.7422	.	423;515;453	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	I	453;423;515	ENSP00000401285:K453I;ENSP00000414188:K423I;ENSP00000440896:K515I	ENSP00000401285:K453I	K	-	2	0	PLD5	240319846	1.000000	0.71417	0.907000	0.35723	0.713000	0.41058	1.008000	0.29872	0.112000	0.17975	0.533000	0.62120	AAA		0.458	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		18	483	0	0	0	1	0	18	483					A	242253223	T	A	242253223	3	1	483	1	0	0	0	0	1	0	0	0	12049	1841	64	5	70	5	PLD5	1	242253223	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	68369356	242253223	6997398	6	39215											
DNMT3A	1788	broad.mit.edu	37	chr2	25467117	25467117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaggtacccttgtgcccGcacatgtagcagttccaggg	12	13	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:25467117G>A	ENST00000264709.3	-	15	2095	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	DNMT3A_ENST00000380746.4_Silent_p.C397C|DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	586	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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)					CCTTGTGCCCGCACATGTAGC	0.612			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(1756-1758)tgC>tgT		DNA (cytosine-5-)-methyltransferase 3 alpha							27	32	30					2																	25467117		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467117G>A		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.1758C>T	2.37:g.25467117G>A						DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000380746.4_Silent_p.C397C	p.C586C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2095	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		586			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1758C>T	CCDS33157.1																																																																																				0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	44	0	0	0	1	0	25	44					A	25467117	G	A	25467117	2	1	483	1	0	0	0	0	0	0	0	1	4676	1079	38	1		1	DNMT3A	2	25467117	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		25467117	217732256	7	39216											
CCDC85A	114800	broad.mit.edu	37	chr2	56420286	56420286	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgggagcccggaacacttCcagaagcaccggtcagggag	15	11	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:56420286C>T	ENST00000407595.2	+	2	1453	c.951C>T	c.(949-951)ttC>ttT	p.F317F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	317	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGGAACACTTCCAGAAGCACC	0.642																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(949-951)ttC>ttT		coiled-coil domain containing 85A							59	69	66					2																	56420286		2032	4186	6218	SO:0001819	synonymous_variant	114800							g.chr2:56420286C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.951C>T	2.37:g.56420286C>T						RP11-482H16.1_ENST00000607540.1_RNA	p.F317F	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1453	+			317			His-rich.			Silent	SNP	ENST00000407595.2	37	c.951C>T	CCDS46290.1																																																																																				0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	219	0	0	0	1	0	5	219					T	56420286	C	T	56420286	2	4	483	1	0	0	0	0	0	0	0	1	2859	854	30	2		2	CCDC85A	2	56420286	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	30953169	56420286	186779087	8	39217											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257270	114257270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttcccctactaccgccGcaagttccccgcctggcaga	8	20	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:114257270G>A	ENST00000306507.5	+	1	610	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTACCGCCGCAAGTTCCCC	0.647																																						ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(436-438)cGc>cAc		forkhead box D4-like 1							21	29	26					2																	114257270		1969	3887	5856	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257270G>A	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.437G>A	2.37:g.114257270G>A	ENSP00000302756:p.Arg146His						p.R146H	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	610	+			146					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.437G>A	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632869	0.67015	.	.	ENSG00000184492	ENST00000306507	D	0.95518	-3.73	2.57	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.32161	U	0.006500	D	0.93122	0.7810	N	0.13327	0.33	0.34798	D	0.736421	D	0.89917	1.0	D	0.70716	0.97	D	0.92718	0.6189	10	0.62326	D	0.03	.	5.4261	0.16427	0.1646:0.0:0.8354:0.0	.	146	Q9NU39	FX4L1_HUMAN	H	146	ENSP00000302756:R146H	ENSP00000302756:R146H	R	+	2	0	FOXD4L1	113973740	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.860000	0.55995	1.452000	0.47756	0.184000	0.17185	CGC		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		5	492	0	0	0	1	0	5	492					A	114257270	G	A	114257270	3	1	483	1	0	0	0	0	1	0	0	0	6000	1087	38	1	439	1	FOXD4L1	2	114257270	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	57836984	114257270	128942103	9	39218											
NCKAP5	344148	broad.mit.edu	37	chr2	133541832	133541832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggggccctgagctcTcagtcttcatgaatcgtgag	12	10	3	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:133541832T>G	ENST00000409261.1	-	14	2925	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851										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						CCCTGAGCTCTCAGTCTTCAT	0.537																																						ENST00000409261.1																			0				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						c.(2551-2553)gAg>gCg		NCK-associated protein 5							94	96	95					2																	133541832		1914	4127	6041	SO:0001583	missense	344148						protein binding	g.chr2:133541832T>G	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.2552A>C	2.37:g.133541832T>G	ENSP00000387128:p.Glu851Ala					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A|NCKAP5_ENST00000409213.1_Intron	p.E851A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	2925	-			851					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2552A>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	10.96	1.499646	0.26861	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11277	2.79;2.79	5.28	5.28	0.74379	.	0.207893	0.23141	U	0.051479	T	0.08935	0.0221	L	0.29908	0.895	0.80722	D	1	P	0.41848	0.763	B	0.36608	0.229	T	0.26710	-1.0095	10	0.34782	T	0.22	.	13.9476	0.64094	0.0:0.0:0.0:1.0	.	851	O14513	NCKP5_HUMAN	A	851	ENSP00000387128:E851A;ENSP00000380603:E851A	ENSP00000380603:E851A	E	-	2	0	NCKAP5	133258302	0.984000	0.35163	0.042000	0.18584	0.200000	0.23975	3.250000	0.51445	2.231000	0.72958	0.529000	0.55759	GAG		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	244	0	0	0	1	0	7	244					G	133541832	T	G	133541832	3	3	483	1	0	0	0	0	1	0	0	0	10223	1551	54	5	3205	5	NCKAP5	2	133541832	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	19284562	133541832	109657541	10	39219											
TTN	7273	broad.mit.edu	37	chr2	179484780	179484780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcatattcacactcatcaTccagcctgcaatcttttata	3	12	4	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:179484780T>C	ENST00000591111.1	-	199	41665	c.41441A>G	c.(41440-41442)gAt>gGt	p.D13814G	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15455G|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G			Q8WZ42	TITIN_HUMAN	titin	13814	Ig-like 94.				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)			ACACTCATCATCCAGCCTGCA	0.363																																						ENST00000589042.1																			0				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						c.(46363-46365)gAt>gGt		titin							132	122	125					2																	179484780		1856	4122	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484780T>C	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.41441A>G	2.37:g.179484780T>C	ENSP00000465570:p.Asp13814Gly					TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D13814G|TTN-AS1_ENST00000590807.1_RNA	p.D15455G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		249	46588	-			13814			Fibronectin type-III 12.		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	ENST00000591111.1	37	c.46364A>G		.	.	.	.	.	.	.	.	.	.	T	14.23	2.474029	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81931	0.4927	M	0.62723	1.935	0.50813	D	0.999896	B;B;P;P	0.38745	0.334;0.334;0.645;0.581	B;B;B;P	0.46825	0.332;0.332;0.332;0.528	D	0.83688	0.0175	9	0.87932	D	0	.	16.3349	0.83056	0.0:0.0:0.0:1.0	.	6390;6515;6582;13814	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12887;6390;6582;6515;6390	ENSP00000343764:D12887G;ENSP00000434586:D6390G;ENSP00000340554:D6582G;ENSP00000352154:D6515G	ENSP00000340554:D6582G	D	-	2	0	TTN	179193025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.937000	0.87672	2.324000	0.78689	0.533000	0.62120	GAT		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	131	0	0	0	1	0	5	131					C	179484780	T	C	179484780	3	2	483	1	0	0	0	0	1	0	0	0	16732	1435	50	3	61785	3	TTN	2	179484780	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	45942948	179484780	63714593	11	39220											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	118	0	0	0	1	0	71	118					C	209113113	G	C	209113113	3	2	483	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	29628333	209113113	34086260	12	39221											
CCDC39	339829	broad.mit.edu	37	chr3	180372584	180372584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattctactagtttcatggTcctgatatgccgttctacat	7	9	3	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:180372584T>C	ENST00000442201.2	-	7	1015	c.896A>G	c.(895-897)gAc>gGc	p.D299G	CCDC39_ENST00000273654.4_Missense_Mutation_p.D383G	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	299					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTCATGGTCCTGATATGC	0.348																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1147-1149)gAc>gGc		coiled-coil domain containing 39							137	116	123					3																	180372584		1826	4090	5916	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372584T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.896A>G	3.37:g.180372584T>C	ENSP00000405708:p.Asp299Gly					CCDC39_ENST00000442201.2_Missense_Mutation_p.D299G	p.D383G			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1767	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		299					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1148A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	9.010	0.982238	0.18889	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.78246	-1.16;-1.16	5.5	-1.11	0.09840	.	1.494650	0.03597	N	0.232687	T	0.65626	0.2709	L	0.29908	0.895	0.09310	N	1	B	0.21309	0.054	B	0.23574	0.047	T	0.45101	-0.9284	10	0.26408	T	0.33	4.4298	5.7132	0.17946	0.0:0.3381:0.2537:0.4082	.	299	Q9UFE4	CCD39_HUMAN	G	383;299	ENSP00000273654:D383G;ENSP00000405708:D299G	ENSP00000273654:D383G	D	-	2	0	CCDC39	181855278	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.131000	0.10482	-0.346000	0.08312	0.460000	0.39030	GAC		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		5	69	0	0	0	1	0	5	69					C	180372584	T	C	180372584	3	2	483	1	0	0	0	0	1	0	0	0	2811	1667	58	3	1985	3	CCDC39	3	180372584	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		180372584	17649846	13	39222											
PCDH18	54510	broad.mit.edu	37	chr4	138449670	138449670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaaacaggtcgctgAatccttcacccaacagccta	8	13	1	2	rs375187095		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:138449670A>C	ENST00000344876.4	-	3	3088	c.2702T>G	c.(2701-2703)tTc>tGc	p.F901C	PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	901	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGGTCGCTGAATCCTTCACC	0.443																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2701-2703)tTc>tGc		protocadherin 18		A	CYS/PHE	0,4406		0,0,2203	176	192	187		2702	5.6	1	4		187	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH18	NM_019035.3	205	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	probably-damaging	901/1136	138449670	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449670A>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2702T>G	4.37:g.138449670A>C	ENSP00000355082:p.Phe901Cys					PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C	p.F901C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			3	3088	-	all_hematologic(180;0.24)		901			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2702T>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.832510	0.91036	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55052	0.64;0.64;0.54;1.42;1.41	5.56	5.56	0.83823	.	0.000000	0.45606	D	0.000342	T	0.70701	0.3254	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;P;P;D	0.74674	0.984;0.888;0.871;0.921	T	0.74278	-0.3717	10	0.87932	D	0	.	15.7229	0.77728	1.0:0.0:0.0:0.0	.	81;680;900;901	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	C	901;900;680;112;81	ENSP00000355082:F901C;ENSP00000390688:F900C;ENSP00000425903:F680C;ENSP00000424269:F112C;ENSP00000425647:F81C	ENSP00000355082:F901C	F	-	2	0	PCDH18	138669120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.904000	0.92590	2.108000	0.64289	0.533000	0.62120	TTC		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		16	391	0	0	0	1	0	16	391					C	138449670	A	C	138449670	3	2	483	1	0	0	0	0	1	0	0	0	11513	246	9	5	713	5	PCDH18	4	138449670	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		138449670	52704606	14	39223											
ELF2	1998	broad.mit.edu	37	chr4	139980298	139980298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgttcttgcttttttgCcactgcttccgatttaacct	5	11	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:139980298C>T	ENST00000394235.2	-	10	2087	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T|ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCTTTTTTGCCACTGCTTCC	0.468																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(1585-1587)Gca>Aca		E74-like factor 2 (ets domain transcription factor)							193	198	196					4																	139980298		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139980298C>T	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1585G>A	4.37:g.139980298C>T	ENSP00000377782:p.Ala529Thr					ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T|ELF2_ENST00000515489.1_Intron	p.A529T	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			10	2087	-	all_hematologic(180;0.162)		541						Missense_Mutation	SNP	ENST00000394235.2	37	c.1585G>A	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178243	0.21787	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.12147	2.71;2.91;2.9;2.91;2.9;2.72	5.15	3.29	0.37713	.	0.460618	0.23770	N	0.044724	T	0.09024	0.0223	N	0.19112	0.55	0.27718	N	0.945218	B;P;B;B;B	0.37370	0.009;0.592;0.1;0.001;0.137	B;B;B;B;B	0.37601	0.009;0.254;0.036;0.001;0.109	T	0.18999	-1.0319	9	.	.	.	.	10.4923	0.44758	0.0:0.8307:0.0:0.1693	.	344;529;452;469;481	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	T	481;529;541;529;452;344;469	ENSP00000351458:A481T;ENSP00000377782:A529T;ENSP00000368868:A541T;ENSP00000265495:A529T;ENSP00000368867:A452T;ENSP00000426997:A469T	.	A	-	1	0	ELF2	140199748	0.926000	0.31397	0.993000	0.49108	0.952000	0.60782	2.191000	0.42640	0.478000	0.27488	0.644000	0.83932	GCA		0.468	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		5	533	0	0	0	1	0	5	533					T	139980298	C	T	139980298	3	4	483	1	0	0	0	0	1	0	0	0	5054	739	26	2	164	2	ELF2	4	139980298	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1530628	139980298	51173978	15	39224											
GOLPH3	64083	broad.mit.edu	37	chr5	32126618	32126618	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggtgaggggatgtgttgtCatgtcaaaaagtaggaagtt	15	2	2	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr5:32126618C>G	ENST00000265070.6	-	4	912	c.597G>C	c.(595-597)atG>atC	p.M199I	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	199	Beta-hairpin required for oligomerization. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GATGTGTTGTCATGTCAAAAA	0.428																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(595-597)atG>atC		golgi phosphoprotein 3 (coat-protein)							229	218	222					5																	32126618		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126618C>G	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.597G>C	5.37:g.32126618C>G	ENSP00000265070:p.Met199Ile						p.M199I	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	912	-			199					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.597G>C	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095970	0.56075	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.108661	0.85682	D	0.000000	T	0.78735	0.4330	M	0.89478	3.035	0.80722	D	1	B	0.17038	0.02	B	0.17433	0.018	T	0.74472	-0.3654	9	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	199	Q9H4A6	GOLP3_HUMAN	I	199;182	.	ENSP00000265070:M199I	M	-	3	0	GOLPH3	32162375	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.440000	0.80464	2.937000	0.99478	0.650000	0.86243	ATG		0.428	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		16	423	0	0	0	1	0	16	423					G	32126618	C	G	32126618	3	3	483	1	0	0	0	0	1	0	0	0	6568	826	29	4	303	4	GOLPH3	5	32126618	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		32126618	148788642	16	39225											
PHACTR1	221692	broad.mit.edu	37	chr6	13273136	13273136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaggaactggaacagaggaAcattttgaaacgtaagtgac	12	5	0	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:13273136A>G	ENST00000379350.1	+	10	1565	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	479					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAACAGAGGAACATTTTGAAA	0.463																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1435-1437)aAc>aGc		phosphatase and actin regulator 1							224	230	228					6																	13273136		1914	4137	6051	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13273136A>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1436A>G	6.37:g.13273136A>G	ENSP00000368655:p.Asn479Ser					PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S	p.N479S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		10	1565	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	479					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1436A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.646672|4.646672	0.87958|0.87958	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329|ENST00000415087	T;T;T|.	0.52983|.	0.67;0.8;0.64|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74183|0.74183	0.3683|0.3683	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.974|.	D;D|.	0.85130|.	0.997;0.953|.	T|T	0.77619|0.77619	-0.2520|-0.2520	10|5	0.72032|.	D|.	0.01|.	-28.3641|-28.3641	15.5298|15.5298	0.75948|0.75948	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	479;479|.	Q9C0D0;Q9C0D0-2|.	PHAR1_HUMAN;.|.	S|A	479;479;334;43;43|314	ENSP00000368655:N479S;ENSP00000329880:N479S;ENSP00000397669:N334S|.	ENSP00000329880:N479S|.	N|T	+|+	2|1	0|0	PHACTR1|PHACTR1	13381115|13381115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.020000|8.020000	0.88740|0.88740	2.259000|2.259000	0.74868|0.74868	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.463	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		15	380	0	0	0	1	0	15	380					G	13273136	A	G	13273136	3	3	483	1	0	0	0	0	1	0	0	0	11809	43	2	3	1470	3	PHACTR1	6	13273136	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		13273136	157841931	17	39226											
GMPR	2766	broad.mit.edu	37	chr6	16290835	16290835	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaacaagcacgcaggAggagttgctgagtacaggtg	15	8	0	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:16290835A>G	ENST00000259727.4	+	8	954	c.840A>G	c.(838-840)ggA>ggG	p.G280G	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	280					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCACGCAGGAGGAGTTGCTG	0.572																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(838-840)ggA>ggG		guanosine monophosphate reductase							120	110	113					6																	16290835		2203	4300	6503	SO:0001819	synonymous_variant	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16290835A>G		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.840A>G	6.37:g.16290835A>G						GMPR_ENST00000544145.1_3'UTR	p.G280G	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			8	954	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	280					Q96HQ6	Silent	SNP	ENST00000259727.4	37	c.840A>G	CCDS4537.1																																																																																				0.572	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			11	188	0	0	0	1	0	11	188					G	16290835	A	G	16290835	2	3	483	1	0	0	0	0	0	0	0	1	6496	291	11	3		3	GMPR	6	16290835	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	3017699	16290835	154824232	18	39227											
LRRC16A	55604	broad.mit.edu	37	chr6	25610405	25610405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccaggacattttcacaGgaaggtaaggattgtaagga	12	7	1	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:25610405G>A	ENST00000329474.6	+	36	4343	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1325					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						CATTTTCACAGGAAGGTAAGG	0.458																																						ENST00000329474.6																			0				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						c.(3973-3975)caG>caA		leucine rich repeat containing 16A							49	51	50					6																	25610405		1826	4086	5912	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25610405G>A	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.3975G>A	6.37:g.25610405G>A						LRRC16A_ENST00000476458.1_3'UTR	p.Q1325Q	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			36	4343	+			1325					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.3975G>A	CCDS54973.1																																																																																				0.458	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		4	113	0	0	0	1	0	4	113					A	25610405	G	A	25610405	2	1	483	1	0	0	0	0	0	0	0	1	8971	991	35	2		2	LRRC16A	6	25610405	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	9319570	25610405	145504662	19	39228											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actttacatttacgctctttCtccgcgaatgcggcgagcga	9	12	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					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(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(400-402)Gaa>Caa		histone cluster 1, H3b							58	61	60					6																	26031889		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031889C>G	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.400G>C	6.37:g.26031889C>G	ENSP00000244661:p.Glu134Gln						p.E134Q	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	399	-			134					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.400G>C	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.646170	0.47258	.	.	ENSG00000124693	ENST00000244661	T	0.48201	0.82	5.17	5.17	0.71159	.	.	.	.	.	T	0.60676	0.2287	.	.	.	0.41871	D	0.990276	.	.	.	.	.	.	T	0.65647	-0.6117	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	Q	134	ENSP00000244661:E134Q	ENSP00000244661:E134Q	E	-	1	0	HIST1H3B	26139868	1.000000	0.71417	0.976000	0.42696	0.130000	0.20726	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAA		0.458	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		8	142	0	0	0	1	0	8	142					G	26031889	C	G	26031889	3	3	483	1	0	0	0	0	1	0	0	0	7156	922	32	4	14	4	HIST1H3B	6	26031889	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	421484	26031889	145083178	20	39229											
MSH5	4439	broad.mit.edu	37	chr6	31726366	31726366	+	Silent	SNP	C	C	T													gctgaaaatcgcttcacagtCctccccaacatagatcctga							TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:31726366C>T	ENST00000375755.3	+	14	1471	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000534153.4_Silent_p.V412V|MSH5-SAPCD1_ENST00000493662.2_Silent_p.V412V|MSH5_ENST00000375750.3_Silent_p.V395V|MSH5_ENST00000375742.3_Silent_p.V412V|MSH5_ENST00000395853.1_Silent_p.V69V|MSH5_ENST00000375703.3_Silent_p.V395V|MSH5_ENST00000375740.3_Silent_p.V412V|MSH5_ENST00000431848.2_Silent_p.V94V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	395					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GCTTCACAGTCCTCCCCAACA	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1234-1236)gtC>gtT									101	83	90					6																	31726366		1511	2709	4220	SO:0001819	synonymous_variant	0							g.chr6:31726366C>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1185C>T	6.37:g.31726366C>T						MSH5_ENST00000395853.1_Silent_p.V69V|MSH5_ENST00000534153.4_Silent_p.V412V|MSH5_ENST00000431848.2_Silent_p.V94V|MSH5_ENST00000375703.3_Silent_p.V395V|MSH5_ENST00000375740.3_Silent_p.V412V|MSH5_ENST00000375742.3_Silent_p.V412V|MSH5_ENST00000375750.3_Silent_p.V395V|MSH5_ENST00000375755.3_Silent_p.V395V	p.V412V							14	1292	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.1236C>T	CCDS4720.1																																																																																				0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			9	116	0	0	0	1	0	9	116					T	31726366	C	T	31726366	2	4	483	1	0	0	0	0	0	0	0	1	9873	842	30	2		2	MSH5	6	31726366	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	5694477	31726366	139388701	21	39230	162	2									
MSH5	4439	broad.mit.edu	37	chr6	31726367	31726367	+	Missense_Mutation	SNP	C	C	T													ctgaaaatcgcttcacagtcCtccccaacatagatcctgaa							TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:31726367C>T	ENST00000375755.3	+	14	1472	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000534153.4_Missense_Mutation_p.L413F|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.L413F|MSH5_ENST00000375750.3_Missense_Mutation_p.L396F|MSH5_ENST00000375742.3_Missense_Mutation_p.L413F|MSH5_ENST00000395853.1_Missense_Mutation_p.L70F|MSH5_ENST00000375703.3_Missense_Mutation_p.L396F|MSH5_ENST00000375740.3_Missense_Mutation_p.L413F|MSH5_ENST00000431848.2_Missense_Mutation_p.L95F	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	396					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CTTCACAGTCCTCCCCAACAT	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(1237-1239)Ctc>Ttc									100	83	89					6																	31726367		1511	2709	4220	SO:0001583	missense	0							g.chr6:31726367C>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"mutS (E. coli) homolog 5", "mutS homolog 5 (E. coli)"			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1186C>T	6.37:g.31726367C>T	ENSP00000364908:p.Leu396Phe					MSH5_ENST00000395853.1_Missense_Mutation_p.L70F|MSH5_ENST00000534153.4_Missense_Mutation_p.L413F|MSH5_ENST00000431848.2_Missense_Mutation_p.L95F|MSH5_ENST00000375703.3_Missense_Mutation_p.L396F|MSH5_ENST00000375740.3_Missense_Mutation_p.L413F|MSH5_ENST00000375742.3_Missense_Mutation_p.L413F|MSH5_ENST00000375750.3_Missense_Mutation_p.L396F|MSH5_ENST00000375755.3_Missense_Mutation_p.L396F	p.L413F							14	1293	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1237C>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338044	0.81911	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;T;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;1.5;-2.82;-2.82	5.82	4.9	0.64082	DNA mismatch repair protein MutS, core (3);	0.171825	0.41097	D	0.000952	D	0.82903	0.5138	N	0.19112	0.55	0.30781	N	0.74198	P;P;D;B;D	0.57899	0.94;0.89;0.973;0.117;0.981	P;P;P;B;P	0.50352	0.582;0.505;0.638;0.138;0.627	D	0.85938	0.1456	9	0.66056	D	0.02	-25.7984	11.2462	0.48998	0.2902:0.7098:0.0:0.0	.	81;413;396;396;413	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	F	396;413;396;413;396;413;238;95;70	ENSP00000364908:L396F;ENSP00000364894:L413F;ENSP00000364903:L396F;ENSP00000431693:L413F;ENSP00000364855:L396F;ENSP00000364892:L413F;ENSP00000394971:L238F;ENSP00000416784:L95F;ENSP00000379194:L70F	ENSP00000364855:L396F	L	+	1	0	MSH5	31834346	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.122000	0.57910	2.756000	0.94617	0.561000	0.74099	CTC		0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			8	115	0	0	0	1	0	8	115					T	31726367	C	T	31726367	3	4	483	1	0	0	0	0	1	0	0	0	9873	681	24	2	1287	2	MSH5	6	31726367	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1	31726367	139388700	22	39231	162	2									
BAK1	578	broad.mit.edu	37	chr6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgttcctgctgatggCggtaaaaaacgtagctgcgg	12	11	0	1	rs1051911		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000360661.5_Missense_Mutation_p.R42H|BAK1_ENST00000442998.2_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(124-126)cGc>cAc		BCL2-antagonist/killer 1							89	80	83					6																	33543651		2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543651C>T	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.125G>A	6.37:g.33543651C>T	ENSP00000363591:p.Arg42His					BAK1_ENST00000360661.5_Missense_Mutation_p.R42H|BAK1_ENST00000442998.2_Missense_Mutation_p.R42H	p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			3	373	-			42		R -> H (in dbSNP:rs1051911).			C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.125G>A	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747074	0.69418	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.05199	3.48;3.48;3.48	3.83	2.92	0.33932	.	0.614391	0.15450	N	0.261712	T	0.09512	0.0234	L	0.55481	1.735	0.34011	D	0.651427	D;D	0.89917	1.0;1.0	D;D	0.70716	0.938;0.97	T	0.04153	-1.0973	10	0.66056	D	0.02	-10.8213	9.6727	0.40021	0.2178:0.7822:0.0:0.0	rs1051911;rs3173268	42;42	B4E0L2;Q16611	.;BAK_HUMAN	H	42	ENSP00000363591:R42H;ENSP00000391258:R42H;ENSP00000353878:R42H	ENSP00000353878:R42H	R	-	2	0	BAK1	33651629	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	3.384000	0.52478	0.912000	0.36772	0.456000	0.33151	CGC		0.602	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		62	108	0	0	0	1	0	62	108					T	33543651	C	T	33543651	3	4	483	1	0	0	0	0	1	0	0	0	1305	768	27	1	526	1	BAK1	6	33543651	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1817284	33543651	137571416	23	39232											
NR2E1	7101	broad.mit.edu	37	chr6	108492765	108492765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttttttcaaacggagCatccgaaggaataggaccta	10	8	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:108492765C>T	ENST00000368986.4	+	2	837	c.129C>T	c.(127-129)agC>agT	p.S43S	NR2E1_ENST00000368983.3_Silent_p.S80S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	43					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)			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)		TCAAACGGAGCATCCGAAGGA	0.557																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(127-129)agC>agT		nuclear receptor subfamily 2, group E, member 1							112	124	120					6																	108492765		2203	4300	6503	SO:0001819	synonymous_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492765C>T	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.129C>T	6.37:g.108492765C>T						NR2E1_ENST00000368983.3_Silent_p.S80S	p.S43S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	837	+		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)	43					Q6ZMP8	Silent	SNP	ENST00000368986.4	37	c.129C>T	CCDS5063.1																																																																																				0.557	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			13	335	0	0	0	1	0	13	335					T	108492765	C	T	108492765	2	4	483	1	0	0	0	0	0	0	0	1	10625	709	25	2		2	NR2E1	6	108492765	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	74949114	108492765	62622302	24	39233											
BCLAF1	9774	broad.mit.edu	37	chr6	136596819	136596819	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactagcaagcagcctgTctttagtcaaggaagcaggt	12	8	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:136596819T>C	ENST00000531224.1	-	6	1955	c.1703A>G	c.(1702-1704)gAc>gGc	p.D568G	BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	568					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)	p.D568G(1)		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)		AAGCAGCCTGTCTTTAGTCAA	0.388																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.D568G(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1702-1704)gAc>gGc		BCL2-associated transcription factor 1							137	128	131					6																	136596819		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596819T>C	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.1703A>G	6.37:g.136596819T>C	ENSP00000435210:p.Asp568Gly					BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G	p.D568G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	1955	-	Colorectal(23;0.24)		568					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1703A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699553	0.68501	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.24547	0.0595	L	0.40543	1.245	0.80722	D	1	P;D;P;D	0.64830	0.947;0.971;0.947;0.994	P;P;P;D	0.70487	0.908;0.85;0.908;0.969	T	0.01800	-1.1271	10	0.87932	D	0	-9.3608	16.0973	0.81135	0.0:0.0:0.0:1.0	.	566;566;568;395	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	G	568;566;568;395;566;566;568	ENSP00000435210:D568G;ENSP00000229446:D566G;ENSP00000435441:D568G;ENSP00000436501:D395G;ENSP00000434826:D566G;ENSP00000376159:D566G;ENSP00000431734:D568G	ENSP00000229446:D566G	D	-	2	0	BCLAF1	136638512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.826000	0.75298	2.263000	0.75096	0.377000	0.23210	GAC		0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		21	305	0	0	0	1	0	21	305					C	136596819	T	C	136596819	3	2	483	1	0	0	0	0	1	0	0	0	1383	1667	58	3	1091	3	BCLAF1	6	136596819	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	28104054	136596819	34518248	25	39234											
UTRN	7402	broad.mit.edu	37	chr6	144878380	144878380	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcctggaggaatatgggagtGatgacacaaggaatgtgaaa	14	4	0	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:144878380G>C	ENST00000367545.3	+	49	7222	c.7222G>C	c.(7222-7224)Gat>Cat	p.D2408H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2408					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)		ATATGGGAGTGATGACACAAG	0.438																																						ENST00000367545.3																			0				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						c.(7222-7224)Gat>Cat		utrophin							134	125	128					6																	144878380		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144878380G>C	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.7222G>C	6.37:g.144878380G>C	ENSP00000356515:p.Asp2408His						p.D2408H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	49	7222	+		Ovarian(120;0.218)	2408					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7222G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591286	0.86851	.	.	ENSG00000152818	ENST00000367545	T	0.35236	1.32	5.93	5.93	0.95920	.	0.000000	0.51477	D	0.000083	T	0.54695	0.1874	M	0.65498	2.005	0.80722	D	1	D	0.56746	0.977	D	0.75020	0.985	T	0.50533	-0.8817	10	0.52906	T	0.07	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	2408	P46939	UTRO_HUMAN	H	2408	ENSP00000356515:D2408H	ENSP00000356515:D2408H	D	+	1	0	UTRN	144920073	1.000000	0.71417	0.966000	0.40874	0.791000	0.44710	8.195000	0.89723	2.805000	0.96524	0.655000	0.94253	GAT		0.438	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			7	119	0	0	0	1	0	7	119					C	144878380	G	C	144878380	3	2	483	1	0	0	0	0	1	0	0	0	17100	1290	45	4	7416	4	UTRN	6	144878380	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	8281561	144878380	26236687	26	39235											
MUC17	140453	broad.mit.edu	37	chr7	100683618	100683618	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctacaactgctgaagGtaccagcatgccaatctcaa	6	13	2	1	rs535974335		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:100683618G>T	ENST00000306151.4	+	3	8985	c.8921G>T	c.(8920-8922)gGt>gTt	p.G2974V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2974	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)					ACTGCTGAAGGTACCAGCATG	0.517																																						ENST00000306151.4																			0				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						c.(8920-8922)gGt>gTt		mucin 17, cell surface associated							215	225	222					7																	100683618		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683618G>T	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.8921G>T	7.37:g.100683618G>T	ENSP00000302716:p.Gly2974Val						p.G2974V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8985	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2974			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8921G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	3.548	-0.092355	0.07053	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.753	-1.51	0.08664	.	.	.	.	.	T	0.03520	0.0101	N	0.20986	0.625	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.40175	-0.9577	9	0.13108	T	0.6	.	5.7794	0.18297	0.2956:0.0:0.7044:0.0	.	2974	Q685J3	MUC17_HUMAN	V	2974	ENSP00000302716:G2974V	ENSP00000302716:G2974V	G	+	2	0	MUC17	100470338	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.898000	0.04105	-0.543000	0.06240	0.121000	0.15741	GGT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	810	1	0	8.12818e-05	1	8.46337e-05	7	810					T	100683618	G	T	100683618	3	4	483	1	0	0	0	0	1	0	0	0	9974	1261	44	4	8931	4	MUC17	7	100683618	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		100683618	58455045	27	39236											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518831	113518831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccttcatgtggatcaaaCgctgtttcctttacctcgat	6	13	2	0	rs34610491	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:113518831C>T	ENST00000284601.3	-	4	2384	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.A772A(1)		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						GTGGATCAAACGCTGTTTCCT	0.408													C|||	5	0.000998403	0.0038	0.0	5008	,	,		23127	0.0		0.0	False		,,,				2504	0.0					ENST00000284601.3																			1	Substitution - coding silent(1)	p.A772A(1)	lung(1)	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						c.(2314-2316)gcG>gcA		protein phosphatase 1, regulatory subunit 3A		C		2,4404	4.2+/-10.8	0,2,2201	125	108	114		2316	0.9	1	7	dbSNP_126	114	0,8598		0,0,4299	no	coding-synonymous	PPP1R3A	NM_002711.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		772/1123	113518831	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113518831C>T	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.2316G>A	7.37:g.113518831C>T							p.A772A	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2384	-			772					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2316G>A	CCDS5759.1																																																																																				0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		14	301	0	0	0	1	0	14	301					T	113518831	C	T	113518831	2	4	483	1	0	0	0	0	0	0	0	1	12371	523	19	1		1	PPP1R3A	7	113518831	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12835213	113518831	45619832	28	39237											
NRF1	4899	broad.mit.edu	37	chr7	129357111	129357111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagatgaccatccagacgaCgcaagcatcagaggccaccc	10	14	1	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:129357111C>T	ENST00000393232.1	+	9	1235	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M|NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	373	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATCCAGACGACGCAAGCATCA	0.537																																						ENST00000393232.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(1117-1119)aCg>aTg		nuclear respiratory factor 1							80	76	77					7																	129357111		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357111C>T	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1118C>T	7.37:g.129357111C>T	ENSP00000376924:p.Thr373Met					NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M|NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M	p.T373M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			9	1235	+			373			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.1118C>T	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216247	0.79352	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.22421	0.69	0.80722	D	1	P;B	0.36660	0.564;0.173	B;B	0.26517	0.07;0.036	T	0.21449	-1.0245	9	0.31617	T	0.26	-0.3763	18.4942	0.90858	0.0:1.0:0.0:0.0	.	373;373	Q96AN2;Q16656	.;NRF1_HUMAN	M	373;307;212;373;373;373;373	.	ENSP00000223190:T373M	T	+	2	0	NRF1	129144347	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.484000	0.81180	2.617000	0.88574	0.650000	0.86243	ACG		0.537	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		7	117	0	0	0	1	0	7	117					T	129357111	C	T	129357111	3	4	483	1	0	0	0	0	1	0	0	0	10646	536	19	1	1148	1	NRF1	7	129357111	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	15838280	129357111	29781552	29	39238											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				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						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				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						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	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.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	136	0	0	0	1	0	4	136					G	12957624	C	G	12957624	3	3	483	1	0	0	0	0	1	0	0	0	4550	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		12957624	133406398	30	39239											
DOCK5	80005	broad.mit.edu	37	chr8	25261108	25261108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggaagcaaagccgcaCggggtctattgtgctcccct	14	11	1	1	rs144175383	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:25261108C>T	ENST00000276440.7	+	48	5005	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1654					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAAGCCGCACGGGGTCTATT	0.532													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20111	0.0		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4960-4962)aCg>aTg		dedicator of cytokinesis 5		C	MET/THR	5,4401	9.9+/-24.2	0,5,2198	266	238	247		4961	4	0.8	8	dbSNP_134	247	0,8600		0,0,4300	yes	missense	DOCK5	NM_024940.6	81	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	1654/1871	25261108	5,13001	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25261108C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4961C>T	8.37:g.25261108C>T	ENSP00000276440:p.Thr1654Met						p.T1654M	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	48	5005	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1654					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4961C>T	CCDS6047.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.12	1.262096	0.23051	0.001135	0.0	ENSG00000147459	ENST00000276440	T	0.04083	3.71	5.81	4.0	0.46444	.	0.524687	0.22121	N	0.064336	T	0.02807	0.0084	N	0.08118	0	0.26785	N	0.969521	P	0.51057	0.941	B	0.39531	0.302	T	0.44329	-0.9335	10	0.41790	T	0.15	.	11.2256	0.48882	0.0:0.8024:0.129:0.0686	.	1654	Q9H7D0	DOCK5_HUMAN	M	1654	ENSP00000276440:T1654M	ENSP00000276440:T1654M	T	+	2	0	DOCK5	25317025	0.993000	0.37304	0.805000	0.32314	0.015000	0.08874	2.903000	0.48711	1.440000	0.47531	-0.176000	0.13171	ACG		0.532	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		12	462	0	0	0	1	0	12	462					T	25261108	C	T	25261108	3	4	483	1	0	0	0	0	1	0	0	0	4690	536	19	1	5151	1	DOCK5	8	25261108	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12303484	25261108	121102914	31	39240											
SNTB1	6641	broad.mit.edu	37	chr8	121823847	121823847	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgggggctgcgcgccgccCgcgcccgggtgcccagcccc	16	21	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:121823847C>A	ENST00000395601.3	-	2	651	c.237G>T	c.(235-237)gcG>gcT	p.A79A	SNTB1_ENST00000519177.1_5'Flank|RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000517992.1_Silent_p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	79	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			gcgcgccgcccgcgcccgggt	0.741																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(235-237)gcG>gcT		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							8	9	8					8																	121823847		2133	4154	6287	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823847C>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.237G>T	8.37:g.121823847C>A						SNTB1_ENST00000517992.1_Silent_p.A79A	p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	651	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		79			PH 1.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.237G>T	CCDS6334.1																																																																																				0.741	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		3	19	1	0	0.115264	1	0.116417	3	19					A	121823847	C	A	121823847	2	1	483	1	0	0	0	0	0	0	0	1	14872	639	23	4		4	SNTB1	8	121823847	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	96562739	121823847	24540175	32	39241											
SFMBT2	57713	broad.mit.edu	37	chr10	7214023	7214023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggccgagggcacctccGccgacgaggtgtccgtctgg	17	15	1	0	rs375469710		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:7214023G>A	ENST00000361972.4	-	19	2339	c.2249C>T	c.(2248-2250)gCg>gTg	p.A750V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	750					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCACCTCCGCCGACGAGGT	0.721																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2248-2250)gCg>gTg		Scm-like with four mbt domains 2		G	VAL/ALA,VAL/ALA	0,4402		0,0,2201	19	22	21		2249,2249	2.2	0	10		21	1,8597		0,1,4298	no	missense,missense	SFMBT2	NM_001029880.2,NM_001018039.1	64,64	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	750/895,750/895	7214023	1,12999	2201	4299	6500	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214023G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2249C>T	10.37:g.7214023G>A	ENSP00000355109:p.Ala750Val					SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			19	2339	-			750					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2249C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	7.508	0.654044	0.14580	0.0	1.16E-4	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.14022	2.54;2.54	5.25	2.24	0.28232	.	0.285942	0.39210	N	0.001429	T	0.11281	0.0275	L	0.42245	1.32	0.44123	D	0.9969	B	0.10296	0.003	B	0.04013	0.001	T	0.13683	-1.0500	10	0.29301	T	0.29	.	9.6297	0.39772	0.244:0.0:0.756:0.0	.	750	Q5VUG0	SMBT2_HUMAN	V	750	ENSP00000355109:A750V;ENSP00000380353:A750V	ENSP00000355109:A750V	A	-	2	0	SFMBT2	7254029	0.997000	0.39634	0.011000	0.14972	0.169000	0.22640	3.493000	0.53266	0.155000	0.19261	-0.215000	0.12644	GCG		0.721	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		4	32	0	0	0	1	0	4	32					A	7214023	G	A	7214023	3	1	483	1	0	0	0	0	1	0	0	0	14158	1087	38	1	447	1	SFMBT2	10	7214023	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		7214023	128320724	33	39242											
ITGA8	8516	broad.mit.edu	37	chr10	15573098	15573098	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgatctgtataaggcatcTtcttaacttcaaaggacacc	7	10	4	1	rs539209602		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:15573098T>A	ENST00000378076.3	-	28	3286	c.2933A>T	c.(2932-2934)aAg>aTg	p.K978M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	978					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						ATAAGGCATCTTCTTAACTTC	0.294																																						ENST00000378076.3																			0				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						c.(2932-2934)aAg>aTg		integrin, alpha 8							102	103	103					10																	15573098		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15573098T>A	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.2933A>T	10.37:g.15573098T>A	ENSP00000367316:p.Lys978Met						p.K978M	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			28	3286	-			978					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2933A>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.817890	0.71028	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.51574	0.7	5.64	3.27	0.37495	.	0.370723	0.34507	N	0.003904	T	0.57799	0.2078	M	0.66939	2.045	0.36464	D	0.866859	D;D	0.61080	0.989;0.981	P;P	0.59288	0.855;0.72	T	0.62840	-0.6769	10	0.51188	T	0.08	.	8.3963	0.32559	0.0:0.0694:0.1323:0.7983	.	963;978	F5H818;P53708	.;ITA8_HUMAN	M	978;963	ENSP00000367316:K978M	ENSP00000367316:K978M	K	-	2	0	ITGA8	15613104	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.635000	0.37134	0.397000	0.25310	0.523000	0.50628	AAG		0.294	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		5	254	0	0	0	1	0	5	254					A	15573098	T	A	15573098	3	1	483	1	0	0	0	0	1	0	0	0	7882	1609	56	5	270	5	ITGA8	10	15573098	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	8359075	15573098	119961649	34	39243											
CUL2	8453	broad.mit.edu	37	chr10	35324207	35324207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacagcacggagtaagaCgtacatatttgccatgtctg	11	9	1	1	rs369928960	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:35324207C>T	ENST00000374748.1	-	11	1208	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	CUL2_ENST00000374749.3_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I|CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I			Q13617	CUL2_HUMAN	cullin 2	299					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						CGGAGTAAGACGTACATATTT	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.002					ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(895-897)Gtc>Atc		cullin 2		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	153	127	136		895,952,934,895	3.5	1	10		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CUL2	NM_001198777.1,NM_001198778.1,NM_001198779.1,NM_003591.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	299/746,318/765,312/759,299/746	35324207	1,13005	2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35324207C>T	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.895G>A	10.37:g.35324207C>T	ENSP00000363880:p.Val299Ile					CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I|CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374749.3_Missense_Mutation_p.V299I	p.V299I			Q13617	CUL2_HUMAN			11	1208	-			299					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.895G>A	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530470	0.45073	0.0	1.16E-4	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.73	3.5	0.40072	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.145899	0.64402	N	0.000010	T	0.09335	0.0230	N	0.01352	-0.895	0.32756	N	0.505772	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.04796	-1.0926	10	0.34782	T	0.22	-13.1666	4.7157	0.12894	0.0:0.5924:0.0:0.4076	.	299;318;299	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	I	299;299;299;299;242;299;318	ENSP00000363883:V299I;ENSP00000363880:V299I;ENSP00000363878:V299I;ENSP00000363881:V299I;ENSP00000363874:V299I;ENSP00000444856:V318I	ENSP00000363874:V299I	V	-	1	0	CUL2	35364213	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	5.094000	0.64523	1.547000	0.49401	0.655000	0.94253	GTC		0.428	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		54	104	0	0	0	1	0	54	104					T	35324207	C	T	35324207	3	4	483	1	0	0	0	0	1	0	0	0	4055	536	19	1	1390	1	CUL2	10	35324207	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	19751109	35324207	100210540	35	39244											
KCNMA1	3778	broad.mit.edu	37	chr10	78651416	78651416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcagagcctccagctccGgcgtggctcctccggtcacc	10	18	2	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:78651416G>A	ENST00000286628.8	-	26	3208	c.3209C>T	c.(3208-3210)cCg>cTg	p.P1070L	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P1012L|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|RP11-443A13.5_ENST00000595702.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1070					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)	CTCCAGCTCCGGCGTGGCTCC	0.577																																						ENST00000286627.5																			0				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						c.(3034-3036)cCg>cTg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						60	61	61					10																	78651416		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651416G>A	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.3209C>T	10.37:g.78651416G>A	ENSP00000286628:p.Pro1070Leu					RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1070L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|RP11-443A13.5_ENST00000458661.2_RNA	p.P1012L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	3987	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1070					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3035C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.545636|4.545636	0.86022|0.86022	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.85258|.	-1.93;-1.93;-1.95;-1.96;-1.95;-1.91;-1.96;-1.94;-1.92|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71837|0.71837	0.3387|0.3387	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D|.	0.89917|.	1.0;0.979;0.988;1.0;0.988;0.92;0.999;0.979|.	D;P;P;D;P;P;D;P|.	0.76575|.	0.964;0.658;0.815;0.988;0.703;0.508;0.951;0.658|.	T|T	0.68093|0.68093	-0.5500|-0.5500	10|5	0.87932|.	D|.	0|.	-8.2411|-8.2411	19.4341|19.4341	0.94783|0.94783	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1041;1042;1053;1070;1012;823;1073;1039|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|W	1012;949;1005;1044;1007;1039;1012;1044;1074;1073;1053;823|963	ENSP00000361517:P1012L;ENSP00000361485:P949L;ENSP00000361514:P1005L;ENSP00000396608:P1044L;ENSP00000361520:P1039L;ENSP00000286627:P1012L;ENSP00000385552:P1074L;ENSP00000346321:P1073L;ENSP00000385806:P1053L|.	ENSP00000286627:P1012L|.	P|R	-|-	2|1	0|2	KCNMA1|KCNMA1	78321422|78321422	1.000000|1.000000	0.71417|0.71417	0.742000|0.742000	0.31022|0.31022	0.646000|0.646000	0.38490|0.38490	9.476000|9.476000	0.97823|0.97823	2.607000|2.607000	0.88179|0.88179	0.585000|0.585000	0.79938|0.79938	CCG|CGG		0.577	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		53	59	0	0	0	1	0	53	59					A	78651416	G	A	78651416	3	1	483	1	0	0	0	0	1	0	0	0	8073	1116	39	1	542	1	KCNMA1	10	78651416	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	43327209	78651416	56883331	36	39245											
SLIT1	6585	broad.mit.edu	37	chr10	98766462	98766462	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaggcagatggggagggatCtcacagagctgtccactgag	16	9	1	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:98766462C>G	ENST00000266058.4	-	32	3602	c.3357G>C	c.(3355-3357)gaG>gaC	p.E1119D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1119	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGGAGGGATCTCACAGAGCT	0.577																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3355-3357)gaG>gaC		slit homolog 1 (Drosophila)							20	21	21					10																	98766462		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98766462C>G	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3357G>C	10.37:g.98766462C>G	ENSP00000266058:p.Glu1119Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	32	3602	-		Colorectal(252;0.162)	1119			EGF-like 5.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3357G>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080605	0.76528	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.94316	0.7549	10	0.62326	D	0.03	.	12.2626	0.54660	0.0:0.923:0.0:0.077	.	1119	O75093	SLIT1_HUMAN	D	1119	ENSP00000266058:E1119D;ENSP00000360109:E1119D	ENSP00000266058:E1119D	E	-	3	2	SLIT1	98756452	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.946000	0.40283	2.698000	0.92095	0.655000	0.94253	GAG		0.577	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	41	0	0	0	1	0	14	41					G	98766462	C	G	98766462	3	3	483	1	0	0	0	0	1	0	0	0	14739	912	32	4	1271	4	SLIT1	10	98766462	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	20115046	98766462	36768285	37	39246											
SIRT3	23410	broad.mit.edu	37	chr11	236177	236177	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgcgggccccatggctgcctCtcagccccgcactcacatcg	10	20	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:236177C>G	ENST00000382743.4	-	1	254	c.152G>C	c.(151-153)aGa>aCa	p.R51T	SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|PSMD13_ENST00000532097.1_5'Flank|PSMD13_ENST00000431206.2_5'Flank|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000528702.1_Intron|PSMD13_ENST00000352303.5_5'Flank|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	51					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGGCTGCCTCTCAGCCCCGC	0.726																																						ENST00000382743.4																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(151-153)aGa>aCa		sirtuin 3							8	11	10					11																	236177		2121	4180	6301	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:236177C>G	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.152G>C	11.37:g.236177C>G	ENSP00000372191:p.Arg51Thr					SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T|SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000525319.1_Intron	p.R51T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	1	254	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	51					B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.152G>C	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649813	0.29336	.	.	ENSG00000142082	ENST00000382743;ENST00000524564;ENST00000532956	T;T;T	0.23147	2.0;1.94;1.92	2.72	1.72	0.24424	.	9.097740	0.01207	U	0.007730	T	0.15782	0.0380	N	0.08118	0	0.18873	N	0.999987	B;B;B;B	0.17465	0.022;0.006;0.006;0.006	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.20505	-1.0273	10	0.40728	T	0.16	.	7.6929	0.28577	0.0:0.6362:0.3638:0.0	.	51;51;51;51	E9PM75;B7Z7G4;E9PN58;Q9NTG7	.;.;.;SIRT3_HUMAN	T	51	ENSP00000372191:R51T;ENSP00000432937:R51T;ENSP00000433077:R51T	ENSP00000372191:R51T	R	-	2	0	SIRT3	226177	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.243000	0.18106	0.425000	0.26087	0.455000	0.32223	AGA		0.726	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			4	7	0	0	0	1	0	4	7					G	236177	C	G	236177	3	3	483	1	0	0	0	0	1	0	0	0	14339	913	32	4	1075	4	SIRT3	11	236177	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		236177	134770339	38	39247											
OR4P4	81300	broad.mit.edu	37	chr11	55405846	55405846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaccatggaaaaaagcAataatagcactttgtttatt	7	6	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:55405846A>C	ENST00000314612.2	+	1	13	c.13A>C	c.(13-15)Aat>Cat	p.N5H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	5						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGAAAAAAGCAATAATAGCAC	0.308																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(13-15)Aat>Cat		olfactory receptor, family 4, subfamily P, member 4							108	108	108					11																	55405846		2183	4020	6203	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405846A>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.13A>C	11.37:g.55405846A>C	ENSP00000324831:p.Asn5His						p.N5H	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	13	+			5						Missense_Mutation	SNP	ENST00000314612.2	37	c.13A>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384021	0.42308	.	.	ENSG00000181927	ENST00000314612	T	0.02197	4.4	4.93	3.79	0.43588	.	0.907116	0.09125	N	0.845137	T	0.04770	0.0129	L	0.31578	0.945	0.09310	N	1	P	0.52170	0.951	P	0.54706	0.759	T	0.50541	-0.8816	10	0.44086	T	0.13	-3.2437	9.8641	0.41131	0.9151:0.0:0.0849:0.0	.	5	Q8NGL7	OR4P4_HUMAN	H	5	ENSP00000324831:N5H	ENSP00000324831:N5H	N	+	1	0	OR4P4	55162422	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.270000	0.18607	1.865000	0.54081	0.509000	0.49947	AAT		0.308	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		138	211	0	0	0	1	0	138	211					C	55405846	A	C	55405846	3	2	483	1	0	0	0	0	1	0	0	0	11080	130	5	5	15	5	OR4P4	11	55405846	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	55169669	55405846	79600670	39	39248											
MS4A6A	64231	broad.mit.edu	37	chr11	59949056	59949056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaattagatttacccCaataactttgatttctgcgt	6	8	2	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:59949056C>A	ENST00000530839.1	-	3	637	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W|MS4A6A_ENST00000528851.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	49						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGATTTACCCCAATAACTTTG	0.478																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(145-147)Ggg>Tgg		membrane-spanning 4-domains, subfamily A, member 6A							155	148	150					11																	59949056		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59949056C>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.145G>T	11.37:g.59949056C>A	ENSP00000436979:p.Gly49Trp					MS4A6A_ENST00000530839.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W|MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W	p.G49W			Q9H2W1	M4A6A_HUMAN			2	285	-			49					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.145G>T	CCDS7981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.56|16.56	3.156783|3.156783	0.57259|0.57259	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023;ENST00000532169;ENST00000534596;ENST00000531531|ENST00000533989	T;T;T;T;T;T;T;T;T;T;T|.	0.52526|.	2.95;2.95;2.95;2.95;2.95;2.88;2.95;1.71;2.95;1.72;0.66|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.403026|.	0.24628|.	N|.	0.036909|.	T|T	0.72495|0.72495	0.3467|0.3467	M|M	0.89658|0.89658	3.05|3.05	0.21897|0.21897	N|N	0.99948|0.99948	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999;0.999|.	T|T	0.67177|0.67177	-0.5736|-0.5736	9|5	.|.	.|.	.|.	.|.	13.0353|13.0353	0.58867|0.58867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	49;77;77;49;49|.	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3|.	.;.;.;M4A6A_HUMAN;.|.	W|F	49;49;49;49;77;49;77;49;49;77;77|28	ENSP00000315878:G49W;ENSP00000431901:G49W;ENSP00000392921:G49W;ENSP00000436979:G49W;ENSP00000435844:G77W;ENSP00000392770:G49W;ENSP00000403212:G77W;ENSP00000436172:G49W;ENSP00000431266:G49W;ENSP00000433436:G77W;ENSP00000433012:G77W|.	.|.	G|L	-|-	1|3	0|2	MS4A6A|MS4A6A	59705632|59705632	0.984000|0.984000	0.35163|0.35163	0.909000|0.909000	0.35828|0.35828	0.479000|0.479000	0.33129|0.33129	3.178000|3.178000	0.50879|0.50879	2.439000|2.439000	0.82584|0.82584	0.655000|0.655000	0.94253|0.94253	GGG|TTG		0.478	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			5	233	1	0	0.000602214	1	0.00061438	5	233					A	59949056	C	A	59949056	3	1	483	1	0	0	0	0	1	0	0	0	9864	594	21	4	652	4	MS4A6A	11	59949056	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4543210	59949056	75057460	40	39249											
AHNAK	79026	broad.mit.edu	37	chr11	62292927	62292927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttgaggtcaccttccaCtttgggcagagaaatatcca	9	12	1	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:62292927C>T	ENST00000378024.4	-	5	9236	c.8962G>A	c.(8962-8964)Gtg>Atg	p.V2988M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2988					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)				TCACCTTCCACTTTGGGCAGA	0.522																																						ENST00000378024.4																			0				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						c.(8962-8964)Gtg>Atg		AHNAK nucleoprotein							140	149	146					11																	62292927		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292927C>T	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.8962G>A	11.37:g.62292927C>T	ENSP00000367263:p.Val2988Met					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V2988M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9236	-		Melanoma(852;0.155)	2988					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8962G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	9.871	1.198888	0.22121	.	.	ENSG00000124942	ENST00000378024	T	0.01240	5.12	4.14	-0.293	0.12835	.	.	.	.	.	T	0.01627	0.0052	L	0.60845	1.875	0.22412	N	0.999123	P	0.49559	0.925	B	0.42422	0.387	T	0.43212	-0.9405	9	0.30078	T	0.28	-1.0651	0.8921	0.01256	0.1561:0.2687:0.3064:0.2688	.	2988	Q09666	AHNK_HUMAN	M	2988	ENSP00000367263:V2988M	ENSP00000367263:V2988M	V	-	1	0	AHNAK	62049503	0.000000	0.05858	0.095000	0.20976	0.086000	0.17979	-1.670000	0.01956	-0.016000	0.14127	0.450000	0.29827	GTG		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	570	0	0	0	1	0	7	570					T	62292927	C	T	62292927	3	4	483	1	0	0	0	0	1	0	0	0	414	565	20	2	8830	2	AHNAK	11	62292927	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	2343871	62292927	72713589	41	39250											
KCTD21	283219	broad.mit.edu	37	chr11	77885166	77885166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgctgaagatgttggcGttgaagacctccatgctgga	15	7	0	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	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;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552																																						ENST00000340067.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11						c.(433-435)aaC>aaT		potassium channel tetramerization domain containing 21							143	123	130					11																	77885166		2200	4292	6492	SO:0001819	synonymous_variant	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885166G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.435C>T	11.37:g.77885166G>A						KCTD21-AS1_ENST00000600795.1_RNA	p.N145N	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	713	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		145					B4DTR0	Silent	SNP	ENST00000340067.3	37	c.435C>T	CCDS31645.1																																																																																				0.552	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		9	124	0	0	0	1	0	9	124					A	77885166	G	A	77885166	2	1	483	1	0	0	0	0	0	0	0	1	8109	1136	40	1		1	KCTD21	11	77885166	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	15592239	77885166	57121350	42	39251											
HEPHL1	341208	broad.mit.edu	37	chr11	93754555	93754555	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcggaagcagccagcTggctgcatctttctcctcac	9	15	3	0	rs200824399		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:93754555T>A	ENST00000315765.9	+	1	29	c.21T>A	c.(19-21)gcT>gcA	p.A7A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCAGCCAGCTGGCTGCATCT	0.537																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(19-21)gcT>gcA		hephaestin-like 1							106	107	106					11																	93754555		1923	4124	6047	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93754555T>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.21T>A	11.37:g.93754555T>A							p.A7A	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			1	29	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	7					Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.21T>A	CCDS44710.1																																																																																				0.537	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		8	211	0	0	0	1	0	8	211					A	93754555	T	A	93754555	2	1	483	1	0	0	0	0	0	0	0	1	7055	1567	55	5		5	HEPHL1	11	93754555	Silent	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	15869389	93754555	41251961	43	39252											
BIRC3	330	broad.mit.edu	37	chr11	102206866	102206866	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagagaactgattgatacGattttagtaaaaggaaatat	9	3	0	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:102206866G>A	ENST00000263464.3	+	7	4244	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	BIRC3_ENST00000532808.1_Silent_p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	498	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|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)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATTGATACGATTTTAGTAA	0.348			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(1492-1494)acG>acA		baculoviral IAP repeat containing 3							107	111	110					11																	102206866		2203	4299	6502	SO:0001819	synonymous_variant	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102206866G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1494G>A	11.37:g.102206866G>A						BIRC3_ENST00000532808.1_Silent_p.T498T	p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	7	4244	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	498			CARD.		Q16628|Q9HC27|Q9UP46	Silent	SNP	ENST00000263464.3	37	c.1494G>A	CCDS8315.1																																																																																				0.348	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		18	307	0	0	0	1	0	18	307					A	102206866	G	A	102206866	2	1	483	1	0	0	0	0	0	0	0	1	1436	1045	37	1		1	BIRC3	11	102206866	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	8452311	102206866	32799650	44	39253											
FLI1	2313	broad.mit.edu	37	chr11	128642720	128642720	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catgtgaggcaatggctggaGtgggccataaaggagtacag	16	6	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:128642720G>C	ENST00000527786.2	+	4	918	c.429G>C	c.(427-429)gaG>gaC	p.E143D	FLI1_ENST00000281428.8_Missense_Mutation_p.E77D|FLI1_ENST00000534087.2_Missense_Mutation_p.E110D|FLI1_ENST00000344954.6_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	143	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGGCTGGAGTGGGCCATAA	0.512			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(328-330)gaG>gaC		Fli-1 proto-oncogene, ETS transcription factor							190	194	193					11																	128642720		2113	4241	6354	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642720G>C	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.429G>C	11.37:g.128642720G>C	ENSP00000433488:p.Glu143Asp					FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.E143D|FLI1_ENST00000534087.1_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000281428.8_Missense_Mutation_p.E77D	p.E110D			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	718	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	143					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.330G>C	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608503	0.28623	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.55	2.67	0.31697	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.154798	0.56097	D	0.000024	T	0.14527	0.0351	N	0.10733	0.035	0.41332	D	0.987249	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.07121	-1.0789	10	0.25751	T	0.34	.	10.2399	0.43305	0.227:0.0:0.773:0.0	.	143;77	Q01543;Q01543-2	FLI1_HUMAN;.	D	110;143;110;77	ENSP00000339627:E110D;ENSP00000399985:E143D;ENSP00000432950:E110D;ENSP00000281428:E77D	ENSP00000281428:E77D	E	+	3	2	FLI1	128147930	0.993000	0.37304	1.000000	0.80357	0.974000	0.67602	0.235000	0.17948	0.883000	0.36040	-0.343000	0.07986	GAG		0.512	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		15	350	0	0	0	1	0	15	350					C	128642720	G	C	128642720	3	2	483	1	0	0	0	0	1	0	0	0	5924	1020	36	4	443	4	FLI1	11	128642720	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	26435854	128642720	6363796	45	39254											
SFRS2IP	9169	broad.mit.edu	37	chr12	46316743	46316743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcttcgagctatctgcGctggcttccactgcaacact	8	14	3	0	rs201238940		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr12:46316743G>A	ENST00000369367.3	-	13	4334	c.4101C>T	c.(4099-4101)agC>agT	p.S1367S	SCAF11_ENST00000465950.1_Silent_p.S1052S|SCAF11_ENST00000419565.2_Silent_p.S1367S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Silent_p.S1175S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1367					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						AGCTATCTGCGCTGGCTTCCA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18882	0.001		0.0	False		,,,				2504	0.0					ENST00000465950.1																			0				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						c.(3154-3156)agC>agT		SR-related CTD-associated factor 11							196	188	191					12																	46316743		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316743G>A	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.4101C>T	12.37:g.46316743G>A						SCAF11_ENST00000419565.2_Silent_p.S1367S|SCAF11_ENST00000549162.1_Silent_p.S1175S|SCAF11_ENST00000369367.3_Silent_p.S1367S|SCAF11_ENST00000550629.1_5'UTR	p.S1052S			Q99590	SCAFB_HUMAN			3	4365	-			1367					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.3156C>T	CCDS8748.2																																																																																				0.398	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	491	0	0	0	1	0	6	491					A	46316743	G	A	46316743	2	1	483	1	0	0	0	0	0	0	0	1	14177	1078	38	1		1	SFRS2IP	12	46316743	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		46316743	87535152	46	39255											
ZMYM2	7750	broad.mit.edu	37	chr13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaatatacgtatggcGtaaatgcatggaaacactgg	9	7	1	0	rs542204363		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:20641084G>A	ENST00000382874.2	+	21	3416	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000382869.3_Missense_Mutation_p.V1076I|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					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)		TACGTATGGCGTAAATGCATG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16516	0.0		0.0	False		,,,				2504	0.0					ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(3226-3228)Gta>Ata		zinc finger, MYM-type 2							128	119	122					13																	20641084		1863	4096	5959	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20641084G>A	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.3226G>A	13.37:g.20641084G>A	ENSP00000372327:p.Val1076Ile					ZMYM2_ENST00000382870.2_Missense_Mutation_p.V456I|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.V1076I	p.V1076I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		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)	20	3477	+		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)	1076					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.3226G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027658	0.35797	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.25579	1.79	5.06	5.06	0.68205	.	0.270733	0.36200	N	0.002736	T	0.17195	0.0413	N	0.10809	0.05	0.80722	D	1	B	0.21905	0.062	B	0.10450	0.005	T	0.04915	-1.0918	10	0.48119	T	0.1	-11.2344	18.4254	0.90607	0.0:0.0:1.0:0.0	.	1076	Q9UBW7	ZMYM2_HUMAN	I	1076;1076;1074;1074;454	ENSP00000372322:V1076I	ENSP00000372322:V1076I	V	+	1	0	ZMYM2	19539084	0.994000	0.37717	0.833000	0.33012	0.632000	0.37999	2.176000	0.42500	2.354000	0.79902	0.455000	0.32223	GTA		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		21	38	0	0	0	1	0	21	38					A	20641084	G	A	20641084	3	1	483	1	0	0	0	0	1	0	0	0	17697	1145	40	1	3296	1	ZMYM2	13	20641084	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		20641084	94528794	47	39256											
IPO5	3843	broad.mit.edu	37	chr13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacatcgttgagaatgCggttcaaaaagaactgagac	11	7	1	3	rs566255473		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	545					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						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0					ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1687-1689)gCg>gTg		importin 5							95	92	93					13																	98658520		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658520C>T	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.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	p.A563V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1868	+			545					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1688C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	207	0	0	0	1	0	4	207					T	98658520	C	T	98658520	3	4	483	1	0	0	0	0	1	0	0	0	7796	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	78017436	98658520	16511358	48	39257											
PARP2	10038	broad.mit.edu	37	chr14	20825295	20825295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaaagaatacaggactgcTgctcttatcagaggtgagac	10	9	2	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:20825295T>C	ENST00000250416.5	+	14	1481	c.1454T>C	c.(1453-1455)cTg>cCg	p.L485P	PARP2_ENST00000429687.3_Missense_Mutation_p.L472P|PARP2_ENST00000527915.1_Missense_Mutation_p.L485P	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	485	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ACAGGACTGCTGCTCTTATCA	0.403								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1453-1455)cTg>cCg	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							103	91	95					14																	20825295		1900	4128	6028	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825295T>C	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1454T>C	14.37:g.20825295T>C	ENSP00000250416:p.Leu485Pro					PARP2_ENST00000250416.5_Missense_Mutation_p.L485P|PARP2_ENST00000429687.3_Missense_Mutation_p.L472P	p.L485P			Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	14	1459	+	all_cancers(95;0.00092)	all_lung(585;0.235)	485			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1454T>C	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762940	0.69763	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.17691	2.26;2.26;2.26	5.5	5.5	0.81552	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000003	T	0.52805	0.1757	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.65627	-0.6122	10	0.87932	D	0	-10.4336	14.7364	0.69419	0.0:0.0:0.0:1.0	.	398;472;485	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	P	472;485;485	ENSP00000392972:L472P;ENSP00000250416:L485P;ENSP00000432283:L485P	ENSP00000250416:L485P	L	+	2	0	PARP2	19895135	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.904000	0.75708	2.302000	0.77476	0.533000	0.62120	CTG		0.403	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			5	120	0	0	0	1	0	5	120					C	20825295	T	C	20825295	3	2	483	1	0	0	0	0	1	0	0	0	11461	1580	55	3	1508	3	PARP2	14	20825295	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		20825295	86524245	49	39258											
ERO1L	30001	broad.mit.edu	37	chr14	53113132	53113132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacatttaaaacaaccaacAcaatccataattcttgaaat	2	10	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:53113132A>G	ENST00000395686.3	-	14	1396	c.1173T>C	c.(1171-1173)tgT>tgC	p.C391C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	391					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)					AACAACCAACACAATCCATAA	0.294																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1171-1173)tgT>tgC		ERO1-like (S. cerevisiae)							99	107	104					14																	53113132		2203	4299	6502	SO:0001819	synonymous_variant	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53113132A>G	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.1173T>C	14.37:g.53113132A>G							p.C391C	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			14	1396	-	Breast(41;0.226)		391					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Silent	SNP	ENST00000395686.3	37	c.1173T>C	CCDS9709.1																																																																																				0.294	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		17	166	0	0	0	1	0	17	166					G	53113132	A	G	53113132	2	3	483	1	0	0	0	0	0	0	0	1	5239	157	6	3		3	ERO1L	14	53113132	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	32287837	53113132	54236408	50	39259											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	15	9	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122	132	129					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		5	474	0	0	0	1	0	5	474					A	103174893	G	A	103174893	3	1	483	1	0	0	0	0	1	0	0	0	13182	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	50061761	103174893	4174647	51	39260											
FMN1	342184	broad.mit.edu	37	chr15	33149252	33149252	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctctagtttgtccttgaaagGctggagatactcctttgggg	12	8	1	2	rs575817325		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:33149252G>C	ENST00000559047.1	-	14	3891	c.3892C>G	c.(3892-3894)Cct>Gct	p.P1298A	FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000334528.9_Missense_Mutation_p.P1075A			Q68DA7	FMN1_HUMAN	formin 1	1298	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTGAAAGGCTGGAGATAC	0.443																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3223-3225)Cct>Gct		formin 1							126	127	127					15																	33149252		1945	4131	6076	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33149252G>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3892C>G	15.37:g.33149252G>C	ENSP00000454047:p.Pro1298Ala					FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000559047.1_Missense_Mutation_p.P1298A	p.P1075A	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	13	3222	-		all_lung(180;1.14e-07)	1298			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3223C>G		.	.	.	.	.	.	.	.	.	.	G	17.98	3.520055	0.64747	.	.	ENSG00000248905	ENST00000334528	T	0.16743	2.32	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	M	0.81497	2.545	0.18873	N	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.53136	-0.8481	9	0.59425	D	0.04	.	15.2718	0.73708	0.0:0.0:1.0:0.0	.	1075	Q68DA7-5	.	A	1075	ENSP00000333950:P1075A	ENSP00000333950:P1075A	P	-	1	0	FMN1	30936544	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.038000	0.70964	2.664000	0.90586	0.650000	0.86243	CCT		0.443	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		61	97	0	0	0	1	0	61	97					C	33149252	G	C	33149252	3	2	483	1	0	0	0	0	1	0	0	0	5949	1203	42	4	387	4	FMN1	15	33149252	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		33149252	69382140	52	39261											
DUOX1	53905	broad.mit.edu	37	chr15	45445612	45445612	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgtggtgaatgtgtaCctgttctccatcagccccct	10	13	2	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:45445612C>A	ENST00000321429.4	+	27	3866	c.3459C>A	c.(3457-3459)taC>taA	p.Y1153*	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|DUOX1_ENST00000559221.1_3'UTR	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1153	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAATGTGTACCTGTTCTCCA	0.552																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3457-3459)taC>taA		dual oxidase 1							322	244	270					15																	45445612		2198	4298	6496	SO:0001587	stop_gained	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45445612C>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3459C>A	15.37:g.45445612C>A	ENSP00000317997:p.Tyr1153*					DUOX1_ENST00000559221.1_3'UTR|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*	p.Y1153*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	27	3866	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1153			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	c.3459C>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	43	10.120616	0.99340	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.88	4.88	0.63580	.	0.238609	0.44285	D	0.000466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0784	15.9021	0.79387	0.0:1.0:0.0:0.0	.	.	.	.	X	1153	.	ENSP00000317997:Y1153X	Y	+	3	2	DUOX1	43232904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.748000	0.55142	2.705000	0.92388	0.650000	0.86243	TAC		0.552	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		5	291	1	0	1.024e-07	1	1.07733e-07	5	291					A	45445612	C	A	45445612	4	1	483	1	0	0	0	0	0	1	0	0	4800	518	18	4	3557	4	DUOX1	15	45445612	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12296360	45445612	57085780	53	39262											
C16orf53	79447	broad.mit.edu	37	chr16	29827954	29827954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctggccgtggaggatacCggaggcccctctgcctcggc	15	15	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr16:29827954C>T	ENST00000320330.6	+	1	670	c.108C>T	c.(106-108)acC>acT	p.T36T	AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Silent_p.T36T			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	36						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											TGGAGGATACCGGAGGCCCCT	0.706											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320330.6																			0											c.(106-108)acC>acT		PAXIP1 associated glutamate-rich protein 1							6	8	7					16																	29827954		2115	4195	6310	SO:0001819	synonymous_variant	79447							g.chr16:29827954C>T	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.108C>T	16.37:g.29827954C>T			OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	AC009133.20_ENST00000569039.1_RNA	p.T36T	NM_024516.3	NP_078792.1					1	670	+								A2ICR6	Silent	SNP	ENST00000320330.6	37	c.108C>T	CCDS10655.1																																																																																				0.706	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		17	25	0	0	0	1	0	17	25					T	29827954	C	T	29827954	2	4	483	1	0	0	0	0	0	0	0	1	1818	639	23	1		1	C16orf53	16	29827954	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		29827954	60526799	54	39263											
POLR2A	5430	broad.mit.edu	37	chr17	7415831	7415831	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcagcacccagtcccAtgggtggaatctctcctgcc	10	14	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7415831A>T	ENST00000322644.6	+	27	4927	c.4528A>T	c.(4528-4530)Atg>Ttg	p.M1510L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1510					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)				ACCCAGTCCCATGGGTGGAAT	0.557																																						ENST00000322644.6																			0				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						c.(4528-4530)Atg>Ttg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							58	52	54					17																	7415831		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7415831A>T			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.4528A>T	17.37:g.7415831A>T	ENSP00000314949:p.Met1510Leu						p.M1510L	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			27	4927	+		Prostate(122;0.173)	1510					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4528A>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898511	0.33535	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.69306	-0.39	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42982	-0.9419	10	0.41790	T	0.15	-16.8859	12.9389	0.58331	1.0:0.0:0.0:0.0	.	1510	P24928	RPB1_HUMAN	L	1466;409;1510	ENSP00000314949:M1510L	ENSP00000314949:M1510L	M	+	1	0	SLC35G6	7356555	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.443000	0.73447	1.889000	0.54706	0.374000	0.22700	ATG		0.557	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		67	91	0	0	0	1	0	67	91					T	7415831	A	T	7415831	3	4	483	1	0	0	0	0	1	0	0	0	12214	217	8	5	4634	5	POLR2A	17	7415831	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		7415831	73779379	55	39264											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)	ENST00000420246.2	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(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	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120	106	110					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*	p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	103	0	0	0	1	0	58	103					A	7577022	G	A	7577022	4	1	483	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	161191	7577022	73618188	56	39265											
TP53	7157	broad.mit.edu	37	chr17	7579328	7579328	+	Frame_Shift_Del	DEL	T	T	-													tgaccgtgcaagtcacagacTtggctgtcccagaatgcaag							TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7579328delT	ENST00000269305.4	-	4	548	c.359delA	c.(358-360)aagfs	p.K120fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs	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	120	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	AGTCACAGACTTGGCTGTCCC	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		27	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(7)|Deletion - In frame(2)	p.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(5)|bone(5)|urinary_tract(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|soft_tissue(1)|liver(1)|pancreas(1)|prostate(1)|breast(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						c.(358-360)agfs	Other conserved DNA damage response genes	tumor protein p53							66	62	63					17																	7579328		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579328delT	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.359delA	17.37:g.7579328delT	ENSP00000269305:p.Lys120fs	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)				TP53_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs	p.K120fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	491	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	120		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.359delA	CCDS11118.1																																																																																				0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		79	92						79	92	---	---	---	---	-	7579328	T	-	7579328	7	5	483	1	0	1	0	1	0	0	0	0	16378	1609	56	0	943	0	TP53	17	7579328	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	2306	7579328	73615882	57	39266											
CNTD1	124817	broad.mit.edu	37	chr17	40957798	40957800	+	In_Frame_Del	DEL	AAG	AAG	-													tctaggctatctacacactaAagaagaactgctggaatcag							TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:40957798_40957800delAAG	ENST00000588408.1	+	4	752_754	c.476_478delAAG	c.(475-480)aaagaa>aaa	p.E161del	CNTD1_ENST00000588527.1_In_Frame_Del_p.E78del|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	161	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTACACACTAAAGAAGAACTGCT	0.419																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(475-480)aaa>a		cyclin N-terminal domain containing 1																																				SO:0001651	inframe_deletion	124817							g.chr17:40957798_40957800delAAG	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.476_478delAAG	17.37:g.40957801_40957803delAAG	ENSP00000465204:p.Glu161del					CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_In_Frame_Del_p.KE76del	p.KE159del	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	4	752_754	+		Breast(137;0.00104)	159			Cyclin N-terminal.		Q658Q6|Q8NEP1	In_Frame_Del	DEL	ENST00000588408.1	37	c.476_478delAAG	CCDS11440.1																																																																																				0.419	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		9	116						9	116	---	---	---	---	-	40957800	AAG	-	40957798	7	5	483	1	0	1	0	1	0	0	0	0	3635	14	1	0	490	0	CNTD1	17	40957798	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RJ-01A-11D-A33T-08	33378470	40957798	40237412	58	39267											
BPTF	2186	broad.mit.edu	37	chr17	65899908	65899908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcatgaattcttaggttAcaccggatgacatcaattga	8	7	2	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:65899908A>G	ENST00000321892.4	+	10	2986	c.2925A>G	c.(2923-2925)ttA>ttG	p.L975L	BPTF_ENST00000424123.3_Silent_p.L836L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000306378.6_Silent_p.L849L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	975					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)			TTCTTAGGTTACACCGGATGA	0.333																																						ENST00000321892.4																			0				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						c.(2923-2925)ttA>ttG		bromodomain PHD finger transcription factor							39	42	41					17																	65899908		2202	4298	6500	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65899908A>G	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.2925A>G	17.37:g.65899908A>G						BPTF_ENST00000306378.6_Silent_p.L849L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000424123.3_Silent_p.L836L	p.L975L			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	2986	+	all_cancers(12;6e-11)		975					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.2925A>G																																																																																					0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		7	108	0	0	0	1	0	7	108					G	65899908	A	G	65899908	2	3	483	1	0	0	0	0	0	0	0	1	1495	388	14	3		3	BPTF	17	65899908	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	24942110	65899908	15295302	59	39268											
BAHCC1	57597	broad.mit.edu	37	chr17	79410429	79410429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaggccggactgtgcccGcagcagggagcacgacacca	16	13	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:79410429G>A	ENST00000307745.7	+	9	2054	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H																								GACTGTGCCCGCAGCAGGGAG	0.682																																						ENST00000307745.7																			0											c.(2053-2055)cGc>cAc									10	12	11					17																	79410429		2047	4160	6207	SO:0001583	missense	0							g.chr17:79410429G>A																												ENST00000307745.7:c.2054G>A	17.37:g.79410429G>A	ENSP00000303486:p.Arg685His						p.R685H							9	2054	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.2054G>A		.	.	.	.	.	.	.	.	.	.	G	19.69	3.874164	0.72180	.	.	ENSG00000171282	ENST00000307745	T	0.18657	2.2	4.24	4.24	0.50183	.	.	.	.	.	T	0.43567	0.1253	M	0.67953	2.075	0.34294	D	0.683605	D	0.89917	1.0	D	0.65874	0.939	T	0.60286	-0.7293	9	0.87932	D	0	.	15.5644	0.76277	0.0:0.0:1.0:0.0	.	685	Q9P281	BAHC1_HUMAN	H	685	ENSP00000303486:R685H	ENSP00000303486:R685H	R	+	2	0	AC110285.1	77025024	0.004000	0.15560	0.997000	0.53966	0.710000	0.40934	1.438000	0.35002	2.190000	0.69967	0.563000	0.77884	CGC		0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	26	0	0	0	1	0	3	26					A	79410429	G	A	79410429	3	1	483	1	0	0	0	0	1	0	0	0	1296	1087	38	1	1903	1	BAHCC1	17	79410429	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	13510521	79410429	1784781	60	39269											
PTPRM	5797	broad.mit.edu	37	chr18	8370965	8370965	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctaatagaaacagaactActggcagaatatgtgataag	8	7	0	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:8370965A>G	ENST00000332175.8	+	22	4130	c.3093A>G	c.(3091-3093)ctA>ctG	p.L1031L	PTPRM_ENST00000400053.4_Silent_p.L969L|PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000580170.1_Silent_p.L1044L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1031	Tyrosine-protein phosphatase 1. {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)				AAACAGAACTACTGGCAGAAT	0.343																																						ENST00000332175.8																			0				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						c.(3091-3093)ctA>ctG		protein tyrosine phosphatase, receptor type, M							100	100	100					18																	8370965		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8370965A>G	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.3093A>G	18.37:g.8370965A>G						PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000580170.1_Silent_p.L1044L|PTPRM_ENST00000400053.4_Silent_p.L969L	p.L1031L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			22	4130	+		Colorectal(10;0.234)	1031			Tyrosine-protein phosphatase 1.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.3093A>G	CCDS11840.1																																																																																				0.343	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			7	141	0	0	0	1	0	7	141					G	8370965	A	G	8370965	2	3	483	1	0	0	0	0	0	0	0	1	12806	378	14	3		3	PTPRM	18	8370965	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		8370965	69706283	61	39270											
DSC1	1823	broad.mit.edu	37	chr18	28728468	28728468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaacttaccggatcgGcaattttcaggcacagtaaa	9	8	1	1	rs138689452		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:28728468G>A	ENST00000257198.5	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	DSC1_ENST00000257197.3_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACCGGATCGGCAATTTTCAG	0.328																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(763-765)tgC>tgT		desmocollin 1		G	,	2,4404	4.2+/-10.8	0,2,2201	144	141	142		765,765	2.3	0.4	18	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DSC1	NM_004948.3,NM_024421.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	255/841,255/895	28728468	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28728468G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.765C>T	18.37:g.28728468G>A						DSC1_ENST00000257198.5_Silent_p.C255C|RP11-408H20.2_ENST00000581836.1_RNA	p.C255C	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		6	1026	-			255			Cadherin 2.		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.765C>T	CCDS11894.1																																																																																				0.328	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		4	237	0	0	0	1	0	4	237					A	28728468	G	A	28728468	2	1	483	1	0	0	0	0	0	0	0	1	4765	1195	42	2		2	DSC1	18	28728468	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	20357503	28728468	49348780	62	39271											
GTF2F1	2962	broad.mit.edu	37	chr19	6391946	6391946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttgactttgtcggcTgcattaaaagccatgatgtt	10	7	0	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:6391946T>C	ENST00000394456.5	-	3	563	c.99A>G	c.(97-99)gcA>gcG	p.A33A	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.A5A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	33					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|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)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTTGTCGGCTGCATTAAAAG	0.443																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(97-99)gcA>gcG		general transcription factor IIF, polypeptide 1, 74kDa							209	190	196					19																	6391946		2201	4297	6498	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6391946T>C		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.99A>G	19.37:g.6391946T>C						GTF2F1_ENST00000429701.2_Silent_p.A5A	p.A33A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			3	563	-			33					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.99A>G	CCDS12165.1																																																																																				0.443	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		5	15	0	0	0	1	0	5	15					C	6391946	T	C	6391946	2	2	483	1	0	0	0	0	0	0	0	1	6858	1567	55	3		3	GTF2F1	19	6391946	Silent	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		6391946	52737037	63	39272											
MUC16	94025	broad.mit.edu	37	chr19	9075042	9075042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctttgctaaagagagtgGtcttctctgagtatgtaaat	10	6	2	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:9075042G>A	ENST00000397910.4	-	3	12607	c.12404C>T	c.(12403-12405)aCc>aTc	p.T4135I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4137	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)				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						AAAGAGAGTGGTCTTCTCTGA	0.502																																						ENST00000397910.4																			0				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						c.(12403-12405)aCc>aTc		mucin 16, cell surface associated							142	133	136					19																	9075042		2062	4189	6251	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075042G>A	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.12404C>T	19.37:g.9075042G>A	ENSP00000381008:p.Thr4135Ile						p.T4135I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12607	-			4137			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12404C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.573	0.880520	0.17467	.	.	ENSG00000181143	ENST00000397910	T	0.34859	1.34	1.93	-1.97	0.07503	.	.	.	.	.	T	0.21718	0.0523	L	0.27053	0.805	.	.	.	B	0.31383	0.321	B	0.35655	0.207	T	0.32719	-0.9896	8	0.87932	D	0	.	0.7984	0.01070	0.1625:0.235:0.3636:0.2388	.	4135	B5ME49	.	I	4135	ENSP00000381008:T4135I	ENSP00000381008:T4135I	T	-	2	0	MUC16	8936042	0.000000	0.05858	0.002000	0.10522	0.653000	0.38743	-0.281000	0.08456	-0.390000	0.07774	0.313000	0.20887	ACC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	100	0	0	0	1	0	54	100					A	9075042	G	A	9075042	3	1	483	1	0	0	0	0	1	0	0	0	9973	1261	44	2	31447	2	MUC16	19	9075042	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	2683096	9075042	50053941	64	39273											
NWD1	284434	broad.mit.edu	37	chr19	16902375	16902375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaacacctacctgtgccgTctcagtccagaagcaaggaa	9	12	1	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:16902375T>C	ENST00000552788.1	+	12	3155	c.3155T>C	c.(3154-3156)gTc>gCc	p.V1052A	NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A|NWD1_ENST00000524140.2_Missense_Mutation_p.V1052A|NWD1_ENST00000339803.6_Missense_Mutation_p.V917A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1052							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						ACCTGTGCCGTCTCAGTCCAG	0.478																																						ENST00000524140.2																			0				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						c.(3154-3156)gTc>gCc		NACHT and WD repeat domain containing 1							127	102	110					19																	16902375		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902375T>C	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.3155T>C	19.37:g.16902375T>C	ENSP00000447224:p.Val1052Ala					NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A|NWD1_ENST00000339803.6_Missense_Mutation_p.V917A	p.V1052A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3573	+			1052					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3155T>C		.	.	.	.	.	.	.	.	.	.	T	10.68	1.418409	0.25552	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.65916	1.82;-0.18;1.82;3.82;3.82;3.82	5.34	2.88	0.33553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.340937	0.26532	N	0.023853	T	0.41305	0.1153	N	0.17082	0.46	0.09310	N	1	B;B;B	0.23891	0.0;0.093;0.005	B;B;B	0.21151	0.001;0.033;0.007	T	0.29640	-1.0005	10	0.48119	T	0.1	-27.2766	7.0052	0.24831	0.0:0.2094:0.0:0.7906	.	1052;1052;917	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	A	917;1052;1052;1052;846;1052;917	ENSP00000428579:V1052A;ENSP00000447548:V1052A;ENSP00000369136:V1052A;ENSP00000428955:V846A;ENSP00000447224:V1052A;ENSP00000340159:V917A	ENSP00000340159:V917A	V	+	2	0	NWD1	16763375	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	0.212000	0.17497	0.868000	0.35678	0.533000	0.62120	GTC		0.478	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	188	0	0	0	1	0	5	188					C	16902375	T	C	16902375	3	2	483	1	0	0	0	0	1	0	0	0	10781	1667	58	3	2788	3	NWD1	19	16902375	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	7827333	16902375	42226608	65	39274											
RASGRP4	115727	broad.mit.edu	37	chr19	38912756	38912756	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttggcggggccggcctcGccctcctatttttccggtgc	12	16	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:38912756G>A	ENST00000587738.1	-	2	131	c.61C>T	c.(61-63)Cga>Tga	p.R21*	RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000454404.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*			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)			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)			GGCCGGCCTCGCCCTCCTATT	0.612																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(61-63)Cga>Tga		RAS guanyl releasing protein 4							34	41	39					19																	38912756		1934	4132	6066	SO:0001587	stop_gained	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38912756G>A	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.61C>T	19.37:g.38912756G>A	ENSP00000465772:p.Arg21*					RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R21*	p.R21*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	274	-	all_cancers(60;4.21e-06)		21					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Nonsense_Mutation	SNP	ENST00000587738.1	37	c.61C>T	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414375	0.62511	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	.	.	.	4.07	2.99	0.34606	.	0.770535	0.11194	N	0.589583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0923	4.9522	0.14021	0.1088:0.0:0.6794:0.2118	.	.	.	.	X	21	.	ENSP00000293062:R21X	R	-	1	2	RASGRP4	43604596	0.038000	0.19896	0.598000	0.28837	0.101000	0.19017	1.700000	0.37815	1.021000	0.39600	0.462000	0.41574	CGA		0.612	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		26	53	0	0	0	1	0	26	53					A	38912756	G	A	38912756	4	1	483	1	0	0	0	0	0	1	0	0	13077	1095	38	1	2024	1	RASGRP4	19	38912756	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	22010381	38912756	20216227	66	39275											
FCGBP	8857	broad.mit.edu	37	chr19	40366460	40366460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcacgaagctgtccccatCgaaagccagcgagagccctg	12	15	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:40366460C>T	ENST00000221347.6	-	30	13781	c.13774G>A	c.(13774-13776)Gat>Aat	p.D4592N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4592	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			CTGTCCCCATCGAAAGCCAGC	0.657																																						ENST00000221347.6																			0				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						c.(13774-13776)Gat>Aat		Fc fragment of IgG binding protein							31	36	34					19																	40366460		2200	4296	6496	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40366460C>T	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.13774G>A	19.37:g.40366460C>T	ENSP00000221347:p.Asp4592Asn						p.D4592N	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13781	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4592			VWFD 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.13774G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761288	0.31137	.	.	ENSG00000090920	ENST00000221347	T	0.60171	0.21	4.12	4.12	0.48240	von Willebrand factor, type D domain (3);	0.000000	0.85682	U	0.000000	T	0.60248	0.2254	L	0.52573	1.65	0.32280	N	0.567724	D	0.57571	0.98	P	0.51415	0.669	T	0.65742	-0.6094	10	0.26408	T	0.33	.	15.6318	0.76917	0.0:1.0:0.0:0.0	.	4592	Q9Y6R7	FCGBP_HUMAN	N	4592	ENSP00000221347:D4592N	ENSP00000221347:D4592N	D	-	1	0	FCGBP	45058300	0.210000	0.23517	0.730000	0.30809	0.092000	0.18411	0.694000	0.25512	2.289000	0.77006	0.305000	0.20034	GAT		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	190	0	0	0	1	0	5	190					T	40366460	C	T	40366460	3	4	483	1	0	0	0	0	1	0	0	0	5778	884	31	1	2471	1	FCGBP	19	40366460	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1453704	40366460	18762523	67	39276											
C5AR1	728	broad.mit.edu	37	chr19	47823729	47823729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctccggacgtggagccGcagggccacgcggtccacca	14	17	0	0	rs201394213		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:47823729G>A	ENST00000355085.3	+	2	717	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	232					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-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;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGTGGAGCCGCAGGGCCACG	0.597																																						ENST00000355085.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(694-696)cGc>cAc		complement component 5a receptor 1		G	HIS/ARG	0,4406		0,0,2203	91	88	89		695	4.8	1	19		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5AR1	NM_001736.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	232/351	47823729	1,13005	2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823729G>A		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.695G>A	19.37:g.47823729G>A	ENSP00000347197:p.Arg232His						p.R232H	NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	717	+		all_cancers(25;2e-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)	232						Missense_Mutation	SNP	ENST00000355085.3	37	c.695G>A	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	g	28.0	4.881187	0.91740	0.0	1.16E-4	ENSG00000197405	ENST00000355085	T	0.38560	1.13	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.459330	0.21120	U	0.079828	T	0.57359	0.2048	M	0.81179	2.53	0.52099	D	0.999945	D	0.61080	0.989	P	0.52066	0.689	T	0.63470	-0.6630	10	0.51188	T	0.08	.	14.8986	0.70661	0.0:0.0:1.0:0.0	.	232	P21730	C5AR_HUMAN	H	232	ENSP00000347197:R232H	ENSP00000347197:R232H	R	+	2	0	C5AR1	52515569	0.000000	0.05858	0.976000	0.42696	0.893000	0.52053	0.899000	0.28417	2.221000	0.72209	0.472000	0.43445	CGC		0.597	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		4	198	0	0	0	1	0	4	198					A	47823729	G	A	47823729	3	1	483	1	0	0	0	0	1	0	0	0	2281	1087	38	1	700	1	C5AR1	19	47823729	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	7457269	47823729	11305254	68	39277											
SLC24A3	57419	broad.mit.edu	37	chr20	19674050	19674050	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctgtggatcgcagccttctCctacatgatggtgtggatgg	14	9	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:19674050C>G	ENST00000328041.6	+	13	1669	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	491					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						GCAGCCTTCTCCTACATGATG	0.493																																						ENST00000328041.6																			0				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						c.(1471-1473)tCc>tGc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							100	83	89					20																	19674050		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19674050C>G	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.1472C>G	20.37:g.19674050C>G	ENSP00000333519:p.Ser491Cys					RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	p.S491C	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			13	1669	+			491					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1472C>G	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722828	0.89298	.	.	ENSG00000185052	ENST00000328041	T	0.67698	-0.28	5.43	5.43	0.79202	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85641	0.1276	9	.	.	.	.	18.8532	0.92241	0.0:1.0:0.0:0.0	.	491	Q9HC58	NCKX3_HUMAN	C	491	ENSP00000333519:S491C	.	S	+	2	0	SLC24A3	19622050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.547000	0.85894	0.655000	0.94253	TCC		0.493	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		6	112	0	0	0	1	0	6	112					G	19674050	C	G	19674050	3	3	483	1	0	0	0	0	1	0	0	0	14467	855	30	4	1522	4	SLC24A3	20	19674050	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		19674050	43351470	69	39278											
TPX2	22974	broad.mit.edu	37	chr20	30363725	30363725	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagagtatgaaaatgCagcaagaggtggtggagatg	17	2	0	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:30363725C>T	ENST00000300403.6	+	8	1192	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.Q222*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	222					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TATGAAAATGCAGCAAGAGGT	0.433																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(664-666)Cag>Tag		TPX2, microtubule-associated							119	120	119					20																	30363725		2203	4300	6503	SO:0001587	stop_gained	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30363725C>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.664C>T	20.37:g.30363725C>T	ENSP00000300403:p.Gln222*					TPX2_ENST00000300403.6_Nonsense_Mutation_p.Q222*	p.Q222*			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		8	1192	+			222					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	ENST00000300403.6	37	c.664C>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	41	9.036462	0.99044	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-21.3279	18.3306	0.90267	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000300403:Q222X	Q	+	1	0	TPX2	29827386	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.181000	0.71988	2.882000	0.98803	0.655000	0.94253	CAG		0.433	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			5	146	0	0	0	1	0	5	146					T	30363725	C	T	30363725	4	4	483	1	0	0	0	0	0	1	0	0	16429	711	25	2	686	2	TPX2	20	30363725	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	10689675	30363725	32661795	70	39279											
CDH26	60437	broad.mit.edu	37	chr20	58564210	58564210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgccatggatccagacagCcagataaggtgagaagagag	13	7	0	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:58564210C>T	ENST00000244047.5	+	9	1586	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	CDH26_ENST00000348616.4_Silent_p.S425S			Q8IXH8	CAD26_HUMAN	cadherin 26	425	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCAGACAGCCAGATAAGGT	0.542																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1273-1275)agC>agT		cadherin 26							124	148	140					20																	58564210		2202	4299	6501	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58564210C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1275C>T	20.37:g.58564210C>T						CDH26_ENST00000244047.5_Silent_p.S425S	p.S425S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1575	+	all_lung(29;0.00963)		425			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1275C>T		.	.	.	.	.	.	.	.	.	.	C	4.708	0.131694	0.08981	.	.	ENSG00000124215	ENST00000370991	.	.	.	5.02	0.305	0.15801	.	.	.	.	.	T	0.23727	0.0574	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	.	4.0538	0.09808	0.0:0.4576:0.23:0.3123	.	.	.	.	V	17	.	.	A	+	2	0	CDH26	57997605	0.000000	0.05858	0.006000	0.13384	0.038000	0.13279	-0.004000	0.12878	0.259000	0.21709	0.655000	0.94253	GCC		0.542	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	510	0	0	0	1	0	5	510					T	58564210	C	T	58564210	2	4	483	1	0	0	0	0	0	0	0	1	3110	738	26	2		2	CDH26	20	58564210	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	28200485	58564210	4461310	71	39280											
C22orf23	84645	broad.mit.edu	37	chr22	38343398	38343398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggaggcaggtagatgggcGaggctatttgcttggaaggt	19	4	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr22:38343398G>A	ENST00000249079.2	-	4	495	c.239C>T	c.(238-240)tCg>tTg	p.S80L	C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	80										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GTAGATGGGCGAGGCTATTTG	0.607																																						ENST00000249079.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(238-240)tCg>tTg		chromosome 22 open reading frame 23							145	125	131					22																	38343398		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38343398G>A	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.239C>T	22.37:g.38343398G>A	ENSP00000249079:p.Ser80Leu					C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L	p.S80L			Q9BZE7	EVG1_HUMAN			4	495	-	Melanoma(58;0.045)		80					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.239C>T	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971817	0.18736	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T	0.46819	0.87;0.87;0.87;0.86	5.08	5.08	0.68730	.	1.370530	0.05121	N	0.490820	T	0.48537	0.1505	L	0.54323	1.7	0.09310	N	0.999999	P	0.45474	0.859	B	0.35655	0.207	T	0.55786	-0.8086	10	0.49607	T	0.09	3.7926	17.0109	0.86406	0.0:0.0:1.0:0.0	.	80	Q9BZE7	EVG1_HUMAN	L	80	ENSP00000384667:S80L;ENSP00000249079:S80L;ENSP00000384618:S80L;ENSP00000395077:S80L	ENSP00000249079:S80L	S	-	2	0	C22orf23	36673344	0.512000	0.26186	0.005000	0.12908	0.117000	0.20001	2.747000	0.47475	2.504000	0.84457	0.555000	0.69702	TCG		0.607	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		4	148	0	0	0	1	0	4	148					A	38343398	G	A	38343398	3	1	483	1	0	0	0	0	1	0	0	0	2137	1059	37	1	430	1	C22orf23	22	38343398	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		38343398	12961168	72	39281											
KLHL34	257240	broad.mit.edu	37	chrX	21675338	21675338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagccgggcctcgggcaccCgcgccacgtcgggggcaccc	16	18	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:21675338C>T	ENST00000379499.2	-	1	1110	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	190	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTCGGGCACCCGCGCCACGTC	0.697																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(568-570)cGg>cAg		kelch-like family member 34							7	7	7					X																	21675338		2046	4027	6073	SO:0001583	missense	257240							g.chrX:21675338C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.569G>A	X.37:g.21675338C>T	ENSP00000368813:p.Arg190Gln						p.R190Q	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1110	-			190			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.569G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	4.424	0.078443	0.08533	.	.	ENSG00000185915	ENST00000379499	T	0.68479	-0.33	4.49	-0.618	0.11576	BTB/Kelch-associated (2);	0.568928	0.16583	N	0.208135	T	0.49440	0.1557	L	0.50333	1.59	0.09310	N	1	D	0.55800	0.973	B	0.39339	0.297	T	0.45352	-0.9267	10	0.28530	T	0.3	.	4.7806	0.13201	0.218:0.4148:0.0:0.3673	.	190	Q8N239	KLH34_HUMAN	Q	190	ENSP00000368813:R190Q	ENSP00000368813:R190Q	R	-	2	0	KLHL34	21585259	0.017000	0.18338	0.065000	0.19835	0.226000	0.24999	1.390000	0.34464	0.056000	0.16144	-0.444000	0.05651	CGG		0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		11	9	0	0	0	1	0	11	9					T	21675338	C	T	21675338	3	4	483	1	0	0	0	0	1	0	0	0	8387	652	23	1	1369	1	KLHL34	23	21675338	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		21675338	133595222	73	39282											
DGKK	139189	broad.mit.edu	37	chrX	50136278	50136278	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatgagcaagggacaTgaacaggctgatgaccaatc	12	7	0	6			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:50136278T>C	ENST00000376025.2	-	0	1526							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)					GCAAGGGACATGAACAGGCTG	0.428																																						ENST00000376025.2																			0				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								diacylglycerol kinase, kappa							85	80	82					X																	50136278		2035	4175	6210			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136278T>C	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.50136278T>C										Q5KSL6	DGKK_HUMAN			0	1526	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.428	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		27	27	0	0	0	1	0	27	27					C	50136278	T	C	50136278	1	2	483	0	1	0	0	0	0	0	0	0	4472	1451	51	3		3	DGKK	23	50136278	RNA	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	28460940	50136278	105134282	74	39283											
APEX2	27301	broad.mit.edu	37	chrX	55033216	55033216	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctgcctgaggtgatgggctCtgaccactgccctgtgggtg	16	11	1	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:55033216C>G	ENST00000374987.3	+	6	971	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	302					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						GTGATGGGCTCTGACCACTGC	0.587								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(904-906)tCt>tGt	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							53	48	50					X																	55033216		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033216C>G	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.905C>G	X.37:g.55033216C>G	ENSP00000364126:p.Ser302Cys						p.S302C	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	971	+			302					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.905C>G	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766785	0.69878	.	.	ENSG00000169188	ENST00000374987	D	0.96885	-4.16	4.36	4.36	0.52297	Endonuclease/exonuclease/phosphatase (2);	0.060161	0.64402	D	0.000001	D	0.98839	0.9608	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99470	1.0945	10	0.87932	D	0	-15.7705	15.592	0.76537	0.0:1.0:0.0:0.0	.	302	Q9UBZ4	APEX2_HUMAN	C	302	ENSP00000364126:S302C	ENSP00000364126:S302C	S	+	2	0	APEX2	55049941	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.491000	0.73649	2.125000	0.65367	0.600000	0.82982	TCT		0.587	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			3	79	0	0	0	1	0	3	79					G	55033216	C	G	55033216	3	3	483	1	0	0	0	0	1	0	0	0	770	913	32	4	927	4	APEX2	23	55033216	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4896938	55033216	100237344	75	39284											
NLGN3	54413	broad.mit.edu	37	chrX	70367807	70367807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggcctgtggaccaatacCtgggggtgccctacgcagct	15	12	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:70367807C>A	ENST00000358741.3	+	2	511	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000374051.3_Missense_Mutation_p.L70M	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	70					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGACCAATACCTGGGGGTGCC	0.632																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(208-210)Ctg>Atg		neuroligin 3							49	43	45					X																	70367807		2203	4299	6502	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70367807C>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.208C>A	X.37:g.70367807C>A	ENSP00000351591:p.Leu70Met					NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L70M	p.L70M	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			2	530	+	Renal(35;0.156)		70					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.208C>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787895	0.49997	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.78	2.07	0.26955	.	0.079753	0.52532	D	0.000068	T	0.78489	0.4291	M	0.87097	2.86	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.995;0.995;0.998	T	0.77368	-0.2614	10	0.72032	D	0.01	.	9.2703	0.37668	0.0:0.7581:0.0:0.2419	.	70;70;70	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	M	70	ENSP00000445298:L70M;ENSP00000363163:L70M;ENSP00000379196:L70M;ENSP00000351591:L70M	ENSP00000351591:L70M	L	+	1	2	NLGN3	70284532	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.638000	0.54332	0.123000	0.18342	0.529000	0.55759	CTG		0.632	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		4	63	1	0	0.00024832	1	0.000255922	4	63					A	70367807	C	A	70367807	3	1	483	1	0	0	0	0	1	0	0	0	10463	680	24	4	210	4	NLGN3	23	70367807	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	15334591	70367807	84902753	76	39285											
ATRX	546	broad.mit.edu	37	chrX	76912144	76912144	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaatcttcactgctcaCttgaattttaaaaaatacat	3	8	4	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76912144C>G	ENST00000373344.5	-	13	4335		c.e13-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TCACTGCTCACTTGaatttta	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e13-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						41	37	38					X																	76912144		2203	4294	6497	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76912144C>G	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.4121-1G>C	X.37:g.76912144C>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			13	4335	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045684	0.75846	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7465	0.88422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76798800	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.275000	0.72594	2.221000	0.72209	0.544000	0.68410	.		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	34	87	0	0	0	1	0	34	87					G	76912144	C	G	76912144	5	3	483	1	0	0	0	0	0	0	1	0	1208	579	20	4	3450	4	ATRX	23	76912144	Splice_Site	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	6544337	76912144	78358416	77	39286											
ATRX	546	broad.mit.edu	37	chrX	76938583	76938583	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aattttgatccacagtctctGattgcttagattttggcaat	7	7	1	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76938583G>C	ENST00000373344.5	-	9	2379	c.2165C>G	c.(2164-2166)tCa>tGa	p.S722*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	722					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						CACAGTCTCTGATTGCTTAGA	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2164-2166)tCa>tGa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						155	152	153					X																	76938583		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938583G>C	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.2165C>G	X.37:g.76938583G>C	ENSP00000362441:p.Ser722*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*	p.S722*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2379	-			722					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2165C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	37	6.386241	0.97524	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.74	4.76	0.60689	.	0.455804	0.20391	N	0.093243	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.0657	12.1756	0.54184	0.1208:0.0:0.8792:0.0	.	.	.	.	X	722;684;649	.	ENSP00000362441:S722X	S	-	2	0	ATRX	76825239	0.971000	0.33674	0.404000	0.26397	0.640000	0.38277	5.297000	0.65704	2.406000	0.81754	0.513000	0.50165	TCA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		31	788	0	0	0	1	0	31	788					C	76938583	G	C	76938583	4	2	483	1	0	0	0	0	0	1	0	0	1208	1294	45	4	5421	4	ATRX	23	76938583	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	26439	76938583	78331977	78	39287											
XIAP	331	broad.mit.edu	37	chrX	123019612	123019612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaatagattaaaaacttttGctaattttccaagtggtagt	6	4	0	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:123019612G>T	ENST00000371199.3	+	2	399	c.100G>T	c.(100-102)Gct>Tct	p.A34S	XIAP_ENST00000434753.3_Missense_Mutation_p.A34S|XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	34					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAAAACTTTTGCTAATTTTCC	0.378									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(100-102)Gct>Tct		X-linked inhibitor of apoptosis							76	78	78					X																	123019612		2202	4299	6501	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019612G>T	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.100G>T	X.37:g.123019612G>T	ENSP00000360242:p.Ala34Ser					XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000434753.3_Missense_Mutation_p.A34S|XIAP_ENST00000468691.1_Intron	p.A34S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	399	+			34					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.100G>T	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	G	6.096	0.385944	0.11524	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.81	4.04	0.47022	Baculoviral inhibition of apoptosis protein repeat (5);	0.237430	0.36101	N	0.002796	T	0.54967	0.1891	N	0.04148	-0.265	0.27519	N	0.951453	P	0.49358	0.923	P	0.49799	0.622	T	0.51639	-0.8680	9	.	.	.	-0.3149	11.8175	0.52220	0.1453:0.0:0.8547:0.0	.	34	P98170	XIAP_HUMAN	S	34	ENSP00000395230:A34S;ENSP00000400637:A34S;ENSP00000360242:A34S;ENSP00000347858:A34S	.	A	+	1	0	XIAP	122847293	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.078000	0.30754	0.610000	0.30035	0.508000	0.49915	GCT		0.378	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		49	257	1	0	9.22156e-22	1	9.80397e-22	49	257					T	123019612	G	T	123019612	3	4	483	1	0	0	0	0	1	0	0	0	17425	1319	46	4	102	4	XIAP	23	123019612	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	46081029	123019612	32250948	79	39288											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299762	125299762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagatagtgcaccagcctgCgacgcgtcgccggccgcttc	12	16	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:125299762C>T	ENST00000360028.2	-	1	172	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R49H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	49										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						CACCAGCCTGCGACGCGTCGC	0.726																																						ENST00000538699.1																			0				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						c.(145-147)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							13	16	15					X																	125299762		1853	3753	5606	SO:0001583	missense	340578							g.chrX:125299762C>T	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.146G>A	X.37:g.125299762C>T	ENSP00000353128:p.Arg49His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R49H	p.R49H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	226	-			49					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.146G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.998681	0.93227	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.19669	2.13;2.13	3.11	3.11	0.35812	.	.	.	.	.	T	0.29028	0.0721	L	0.52364	1.645	0.21740	N	0.999569	D	0.89917	1.0	P	0.60609	0.877	T	0.11421	-1.0588	9	0.19147	T	0.46	.	5.4755	0.16694	0.0:0.8453:0.0:0.1547	.	49	Q5VW00	DC122_HUMAN	H	49	ENSP00000441489:R49H;ENSP00000353128:R49H	ENSP00000353128:R49H	R	-	2	0	DCAF12L2	125127443	0.020000	0.18652	0.006000	0.13384	0.820000	0.46376	1.406000	0.34646	1.830000	0.53286	0.287000	0.19450	CGC		0.726	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		7	85	0	0	0	1	0	7	85					T	125299762	C	T	125299762	3	4	483	1	0	0	0	0	1	0	0	0	4265	768	27	1	1249	1	DCAF12L2	23	125299762	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	2280150	125299762	29970798	80	39289											
ZNF280C	55609	broad.mit.edu	37	chrX	129370527	129370527	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggatttatctgaggaacatCttcactggtctttggttttt	10	6	4	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:129370527C>A	ENST00000370978.4	-	7	733	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	194	Ser-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)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAGGAACATCTTCACTGGTC	0.363																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(580-582)Gat>Tat		zinc finger protein 280C							154	127	136					X																	129370527		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370527C>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 3 (Drosophila)"	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.580G>T	X.37:g.129370527C>A	ENSP00000360017:p.Asp194Tyr						p.D194Y	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	733	-			194			Ser-rich.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.580G>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678287	0.29783	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.25414	1.8;1.8	3.92	-1.89	0.07689	.	.	.	.	.	T	0.27205	0.0667	N	0.22421	0.69	0.09310	N	1	P;P	0.52170	0.951;0.951	P;P	0.56163	0.793;0.793	T	0.31052	-0.9957	9	0.59425	D	0.04	.	10.6386	0.45579	0.0:0.3299:0.0:0.6701	.	194;194	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	194	ENSP00000360017:D194Y;ENSP00000408521:D194Y	ENSP00000066465:D194Y	D	-	1	0	ZNF280C	129198208	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.527000	0.06200	-1.296000	0.02353	-1.679000	0.00737	GAT		0.363	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		4	159	1	0	0.150653	1	0.150653	4	159					A	129370527	C	A	129370527	3	1	483	1	0	0	0	0	1	0	0	0	17813	913	32	4	1685	4	ZNF280C	23	129370527	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4070765	129370527	25900033	81	39290											
GPR101	83550	broad.mit.edu	37	chrX	136113495	136113495	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgacgctggcgaaggcgaaCaggtgggtgaggctaaccag	17	8	0	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:136113495C>G	ENST00000298110.1	-	1	338	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	113						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)					CGAAGGCGAACAGGTGGGTGA	0.612																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(337-339)ctG>ctC		G protein-coupled receptor 101							77	57	64					X																	136113495		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113495C>G	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.339G>C	X.37:g.136113495C>G							p.L113L	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	338	-	Acute lymphoblastic leukemia(192;0.000127)		113					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.339G>C	CCDS14662.1																																																																																				0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			7	59	0	0	0	1	0	7	59					G	136113495	C	G	136113495	2	3	483	1	0	0	0	0	0	0	0	1	6622	465	17	4		4	GPR101	23	136113495	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	6742968	136113495	19157065	82	39291											
MAGEC1	9947	broad.mit.edu	37	chrX	140995747	140995747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctgagagtcctctccagAgtcctgtgatctccttctcc	7	17	3	3	rs139093022	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:140995747A>G	ENST00000285879.4	+	4	2843	c.2557A>G	c.(2557-2559)Agt>Ggt	p.S853G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	853										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTCCAGAGTCCTGTGAT	0.512										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2557-2559)Agt>Ggt		melanoma antigen family C, 1							120	127	125					X																	140995747		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995747A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2557A>G	X.37:g.140995747A>G	ENSP00000285879:p.Ser853Gly	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S853G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2843	+	Acute lymphoblastic leukemia(192;6.56e-05)		853					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2557A>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	5.011	0.187658	0.09547	.	.	ENSG00000155495	ENST00000285879	T	0.02216	4.39	1.27	-0.759	0.11045	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.34692	D	0.725818	B	0.06786	0.001	B	0.04013	0.001	T	0.48747	-0.9008	9	0.25106	T	0.35	.	2.0017	0.03468	0.5286:0.0:0.2121:0.2592	.	853	O60732	MAGC1_HUMAN	G	853	ENSP00000285879:S853G	ENSP00000285879:S853G	S	+	1	0	MAGEC1	140823413	0.148000	0.22702	0.006000	0.13384	0.016000	0.09150	0.664000	0.25068	-0.593000	0.05844	-0.836000	0.03065	AGT		0.512	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	434	0	0	0	1	0	6	434					G	140995747	A	G	140995747	3	3	483	1	0	0	0	0	1	0	0	0	9180	304	11	3	2563	3	MAGEC1	23	140995747	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	4882252	140995747	14274813	83	39292											
EMD	2010	broad.mit.edu	37	chrX	153608070	153608070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatcaactcgtaggctttacGagaagaagatcttcgagtac	10	8	2	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:153608070G>A	ENST00000369842.4	+	2	391	c.103G>A	c.(103-105)Gag>Aag	p.E35K	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	35	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	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)					TAGGCTTTACGAGAAGAAGAT	0.697																																						ENST00000369842.4																			0				lung(5)	5						c.(103-105)Gag>Aag		emerin							20	24	23					X																	153608070		2120	4138	6258	SO:0001583	missense	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608070G>A	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.103G>A	X.37:g.153608070G>A	ENSP00000358857:p.Glu35Lys					EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	p.E35K	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			2	391	+	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)		35			LEM.		Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	c.103G>A	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326027	0.60743	.	.	ENSG00000102119	ENST00000369842	T	0.57595	0.39	3.68	3.68	0.42216	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (3);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.73981	-0.3811	10	0.62326	D	0.03	-3.9353	10.6881	0.45854	0.0:0.0:1.0:0.0	.	35	P50402	EMD_HUMAN	K	35	ENSP00000358857:E35K	ENSP00000358857:E35K	E	+	1	0	EMD	153261264	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.508000	0.60441	1.784000	0.52394	0.436000	0.28706	GAG		0.697	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			4	118	0	0	0	1	0	4	118					A	153608070	G	A	153608070	3	1	483	1	0	0	0	0	1	0	0	0	5087	1059	37	1	109	1	EMD	23	153608070	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	12612323	153608070	1662490	84	39293											
ARHGAP29	9411	broad.mit.edu	37	chr1	94651006	94651006	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcctttgacatcaaTgttttcttaaatgttccaag	7	8	2	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94651006T>G	ENST00000260526.6	-	17	1994	c.1812A>C	c.(1810-1812)acA>acC	p.T604T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	604					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)		TTGACATCAATGTTTTCTTAA	0.348																																						ENST00000260526.6																			0				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						c.(1810-1812)acA>acC		Rho GTPase activating protein 29							128	120	123					1																	94651006		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94651006T>G		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.1812A>C	1.37:g.94651006T>G						ARHGAP29_ENST00000482481.1_5'UTR	p.T604T	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	17	1994	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	604					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.1812A>C	CCDS748.1																																																																																				0.348	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		36	92	0	0	0	1	0	36	92					G	94651006	T	G	94651006	2	3	484	1	0	0	0	0	0	0	0	1	878	1451	51	5		5	ARHGAP29	1	94651006	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08		94651006	154599615	1	39294											
NBAS	51594	broad.mit.edu	37	chr2	15448386	15448386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatggggccaatcggGcatagatctggaggctatag	14	7	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:15448386G>A	ENST00000281513.5	-	40	4776	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1584					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						GGCCAATCGGGCATAGATCTG	0.473																																						ENST00000281513.5																			0				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						c.(4750-4752)gCc>gTc		neuroblastoma amplified sequence							95	90	92					2																	15448386		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15448386G>A	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.4751C>T	2.37:g.15448386G>A	ENSP00000281513:p.Ala1584Val					NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	p.A1584V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			40	4776	-			1584					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4751C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.879552|3.879552	0.72294|0.72294	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.09723|.	2.95;3.13|.	6.16|6.16	4.35|4.35	0.52113|0.52113	.|.	0.346401|.	0.37348|.	N|.	0.002139|.	T|T	0.64571|0.64571	0.2610|0.2610	M|M	0.63428|0.63428	1.95|1.95	0.43032|0.43032	D|D	0.994603|0.994603	P;P|.	0.44006|.	0.824;0.741|.	B;B|.	0.42112|.	0.376;0.104|.	T|T	0.62680|0.62680	-0.6803|-0.6803	10|5	0.87932|.	D|.	0|.	.|.	12.141|12.141	0.53998|0.53998	0.0644:0.1214:0.8142:0.0|0.0644:0.1214:0.8142:0.0	.|.	1464;1584|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|S	1464;1584|632	ENSP00000413201:A1464V;ENSP00000281513:A1584V|.	ENSP00000281513:A1584V|.	A|P	-|-	2|1	0|0	NBAS|NBAS	15365837|15365837	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.502000|0.502000	0.33828|0.33828	6.403000|6.403000	0.73264|0.73264	0.907000|0.907000	0.36646|0.36646	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		4	113	0	0	0	1	0	4	113					A	15448386	G	A	15448386	3	1	484	1	0	0	0	0	1	0	0	0	10186	1203	42	2	2416	2	NBAS	2	15448386	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		15448386	227750987	2	39295											
C2orf16	84226	broad.mit.edu	37	chr2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcccgctcggaggagccatCgcagtccctcagagagaagc	13	14	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5179-5181)Cgc>Tgc		chromosome 2 open reading frame 16							174	180	178					2																	27804618		1937	4136	6073	SO:0001583	missense	84226							g.chr2:27804618C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5179C>T	2.37:g.27804618C>T	ENSP00000386190:p.Arg1727Cys						p.R1727C	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5230	+	Acute lymphoblastic leukemia(172;0.155)		1727			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5179C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517481	0.44763	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.95	3.95	0.45737	.	.	.	.	.	T	0.12603	0.0306	L	0.39898	1.24	0.09310	N	1	D	0.71674	0.998	P	0.53649	0.731	T	0.07385	-1.0775	9	0.66056	D	0.02	.	14.296	0.66314	0.0:1.0:0.0:0.0	.	1727	Q68DN1	CB016_HUMAN	C	1727	ENSP00000386190:R1727C	ENSP00000386190:R1727C	R	+	1	0	C2orf16	27658122	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.313000	0.08103	2.491000	0.84063	0.462000	0.41574	CGC		0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		216	259	0	0	0	1	0	216	259					T	27804618	C	T	27804618	3	4	484	1	0	0	0	0	1	0	0	0	2157	884	31	1	5181	1	C2orf16	2	27804618	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	12356232	27804618	215394755	3	39296											
TMEM131	23505	broad.mit.edu	37	chr2	98409857	98409857	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	attgccagcatgtgaacataCtttccttcagatgaaatacc	6	10	1	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:98409857C>G	ENST00000186436.5	-	30	3774		c.e30+1			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							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						TGTGAACATACTTTCCTTCAG	0.403																																						ENST00000186436.5																			0				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						c.e30+1		transmembrane protein 131							83	82	83					2																	98409857		1855	4091	5946	SO:0001630	splice_region_variant	23505					integral to membrane		g.chr2:98409857C>G	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.3545+1G>C	2.37:g.98409857C>G								NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			30	3774	-									Splice_Site	SNP	ENST00000186436.5	37		CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599569	0.87055	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM131	97776289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.238000	0.78173	2.885000	0.99019	0.655000	0.94253	.		0.403	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	Intron	4	91	0	0	0	1	0	4	91					G	98409857	C	G	98409857	5	3	484	1	0	0	0	0	0	0	1	0	16041	579	20	4	2153	4	TMEM131	2	98409857	Splice_Site	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	70605239	98409857	144789516	4	39297											
TTN	7273	broad.mit.edu	37	chr2	179605461	179605461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcaggctcttcaggcattaGaataccttctttggagaagg	10	9	4	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:179605461G>C	ENST00000591111.1	-	46	11772	c.11548C>G	c.(11548-11550)Cta>Gta	p.L3850V	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L4167V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V			Q8WZ42	TITIN_HUMAN	titin	0					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)			TCAGGCATTAGAATACCTTCT	0.428																																						ENST00000589042.1																			0				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						c.(12499-12501)Cta>Gta		titin							95	93	94					2																	179605461		1880	4100	5980	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605461G>C	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.11548C>G	2.37:g.179605461G>C	ENSP00000465570:p.Leu3850Val					TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000591111.1_Missense_Mutation_p.L3850V	p.L4167V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12723	-			3850					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	ENST00000591111.1	37	c.12499C>G		.	.	.	.	.	.	.	.	.	.	G	0.285	-0.983799	0.02180	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.73897	-0.67;-0.79;-0.78	5.32	0.281	0.15687	.	.	.	.	.	T	0.58337	0.2115	L	0.27053	0.805	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.18561	0.009;0.009;0.022	T	0.51204	-0.8735	9	0.87932	D	0	.	5.8118	0.18469	0.3916:0.0:0.4794:0.129	.	3804;3929;3996	D3DPF9;E7EQE6;E7ET18	.;.;.	V	3804;3996;3929;3804	ENSP00000434586:L3804V;ENSP00000340554:L3996V;ENSP00000352154:L3929V	ENSP00000340554:L3996V	L	-	1	2	TTN	179313706	0.029000	0.19370	0.000000	0.03702	0.002000	0.02628	0.605000	0.24179	0.052000	0.16007	-0.140000	0.14226	CTA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	119	0	0	0	1	0	46	119					C	179605461	G	C	179605461	3	2	484	1	0	0	0	0	1	0	0	0	16732	933	33	4	92290	4	TTN	2	179605461	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	81195604	179605461	63593912	5	39298											
ASNSD1	54529	broad.mit.edu	37	chr2	190531397	190531397	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagcatctggacttttcaGaattgatcttaagtctactg	7	9	4	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:190531397G>A	ENST00000260952.4	+	4	952	c.539G>A	c.(538-540)aGa>aAa	p.R180K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	180	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)			GGACTTTTCAGAATTGATCTT	0.363																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(538-540)aGa>aAa		asparagine synthetase domain containing 1							70	72	71					2																	190531397		2200	4294	6494	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531397G>A	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.539G>A	2.37:g.190531397G>A	ENSP00000260952:p.Arg180Lys					ASNSD1_ENST00000607062.1_Intron	p.R180K	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	952	+			180			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.539G>A	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662980	0.14710	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.28666	1.6;1.6	6.07	1.76	0.24704	Glutamine amidotransferase, type II (1);	0.295605	0.47093	N	0.000248	T	0.16557	0.0398	N	0.25789	0.76	0.37765	D	0.926471	B	0.13145	0.007	B	0.09377	0.004	T	0.15521	-1.0434	10	0.09338	T	0.73	-15.7065	8.6149	0.33826	0.4908:0.0:0.5092:0.0	.	180	Q9NWL6	ASND1_HUMAN	K	180	ENSP00000260952:R180K;ENSP00000406790:R180K	ENSP00000260952:R180K	R	+	2	0	ASNSD1	190239642	1.000000	0.71417	0.973000	0.42090	0.836000	0.47400	2.031000	0.41117	0.277000	0.22141	0.655000	0.94253	AGA		0.363	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		5	231	0	0	0	1	0	5	231					A	190531397	G	A	190531397	3	1	484	1	0	0	0	0	1	0	0	0	1049	942	33	2	541	2	ASNSD1	2	190531397	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	10925936	190531397	52667976	6	39299											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			61	102	0	0	0	1	0	61	102					C	209113113	G	C	209113113	3	2	484	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18581716	209113113	34086260	7	39300											
SUMF1	285362	broad.mit.edu	37	chr3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgaagtccattcccatgCgttccccactatgttgtata	7	12	1	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298					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)		CATTCCCATGCGTTCCCCACT	0.423																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(892-894)Gca>Aca		sulfatase modifying factor 1							199	177	185					3																	4452611		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452611C>T	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.892G>A	3.37:g.4452611C>T	ENSP00000272902:p.Ala298Thr					SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	927	-		Melanoma(143;0.068)|Colorectal(144;0.233)	298					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.892G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130332	0.37630	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-3.44;-4.51	5.42	5.42	0.78866	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.253406	0.45126	D	0.000394	D	0.97536	0.9193	L	0.55743	1.74	0.41894	D	0.990384	D;B;P;P	0.53885	0.963;0.234;0.942;0.646	P;B;P;B	0.52909	0.467;0.076;0.713;0.189	D	0.98198	1.0466	10	0.59425	D	0.04	-33.5749	17.9951	0.89181	0.0:1.0:0.0:0.0	.	166;273;298;298	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	T	298;298;298;273;166;298	ENSP00000440421:A298T;ENSP00000272902:A298T;ENSP00000373355:A273T;ENSP00000410060:A166T;ENSP00000384977:A298T	ENSP00000272902:A298T	A	-	1	0	SUMF1	4427611	0.981000	0.34729	0.007000	0.13788	0.023000	0.10783	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	GCA		0.423	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		10	268	0	0	0	1	0	10	268					T	4452611	C	T	4452611	3	4	484	1	0	0	0	0	1	0	0	0	15382	768	27	1	244	1	SUMF1	3	4452611	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		4452611	193569819	8	39301											
RFTN1	23180	broad.mit.edu	37	chr3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													gttggcgtccaaaccgctcaCtgtctggccattcttggaga							TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.51																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(928-933)tgfs		raftlin, lipid raft linker 1																																				SO:0001589	frameshift_variant	23180					plasma membrane		g.chr3:16411682_16411685delCTGT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.928_931delACAG	3.37:g.16411682_16411685delCTGT	ENSP00000334153:p.Thr310fs					RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	p.TV310fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			6	1200_1203	-			310					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Frame_Shift_Del	DEL	ENST00000334133.4	37	c.928_931delACAG	CCDS33712.1																																																																																				0.51	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		124	370						124	370	---	---	---	---	-	16411685	CTGT	-	16411682	7	5	484	1	0	1	0	1	0	0	0	0	13258	565	20	0	825	0	RFTN1	3	16411682	Frame_Shift_Del	DEL	CTGT	TCGA-TQ-A7RK-01A-11D-A33T-08	11959071	16411682	181610748	9	39302											
LEKR1	389170	broad.mit.edu	37	chr3	156745897	156745897	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatttatcttacagatatcTgacttaatcacaggcgctac	6	9	3	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	154										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(460-462)tcT>tcC		leucine, glutamate and lysine rich 1							47	50	49					3																	156745897		2202	4300	6502	SO:0001819	synonymous_variant	389170							g.chr3:156745897T>C	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.462T>C	3.37:g.156745897T>C						LEKR1_ENST00000356539.4_Silent_p.S458S	p.S154S			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		13	1797	+			0						Silent	SNP	ENST00000470811.1	37	c.462T>C																																																																																					0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		39	58	0	0	0	1	0	39	58					C	156745897	T	C	156745897	2	2	484	1	0	0	0	0	0	0	0	1	8717	1567	55	3		3	LEKR1	3	156745897	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	140334215	156745897	41276533	10	39303											
C4orf19	55286	broad.mit.edu	37	chr4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgcaggagaagatttggAtgagactgattaggggaggg	17	3	0	4			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	RELL1_ENST00000314117.4_3'UTR|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(931-933)gAt>gCt		chromosome 4 open reading frame 19							58	61	60					4																	37592609		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592609A>C	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.932A>C	4.37:g.37592609A>C	ENSP00000284437:p.Asp311Ala					RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A|C4orf19_ENST00000508175.1_Intron	p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	1110	+			311					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.932A>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804067	0.70682	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.29917	1.55;1.55	5.15	5.15	0.70609	.	0.303544	0.28042	N	0.016821	T	0.45074	0.1324	L	0.55481	1.735	0.80722	D	1	D	0.63046	0.992	P	0.57101	0.813	T	0.43163	-0.9408	10	0.87932	D	0	-19.3095	13.9844	0.64324	1.0:0.0:0.0:0.0	.	311	Q8IY42	CD019_HUMAN	A	311	ENSP00000371408:D311A;ENSP00000284437:D311A	ENSP00000284437:D311A	D	+	2	0	C4orf19	37269004	1.000000	0.71417	0.104000	0.21259	0.690000	0.40134	5.815000	0.69215	2.288000	0.76882	0.482000	0.46254	GAT		0.552	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		49	78	0	0	0	1	0	49	78					C	37592609	A	C	37592609	3	2	484	1	0	0	0	0	1	0	0	0	2253	333	12	5	938	5	C4orf19	4	37592609	Missense_Mutation	SNP	A	TCGA-TQ-A7RK-01A-11D-A33T-08		37592609	153561667	11	39304											
UGT2B15	7366	broad.mit.edu	37	chr4	69519890	69519890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgcaaacaagggaatgCccaccatagggatcccatgg	11	12	0	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:69519890C>T	ENST00000338206.5	-	5	1187	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	393					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)	CAAGGGAATGCCCACCATAGG	0.463																																						ENST00000338206.5																			0											c.(1177-1179)gGc>gAc		UDP glucuronosyltransferase 2 family, polypeptide B15							184	180	181					4																	69519890		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519890C>T	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.1178G>A	4.37:g.69519890C>T	ENSP00000341045:p.Gly393Asp						p.G393D	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1187	-			393					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1178G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	15.35	2.807789	0.50421	.	.	ENSG00000196620	ENST00000338206	T	0.63744	-0.06	2.57	2.57	0.30868	.	0.000000	0.64402	U	0.000001	T	0.79009	0.4374	H	0.97732	4.065	0.38628	D	0.951317	P	0.49253	0.921	P	0.51266	0.664	D	0.84686	0.0720	10	0.45353	T	0.12	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	393	P54855	UDB15_HUMAN	D	393	ENSP00000341045:G393D	ENSP00000341045:G393D	G	-	2	0	UGT2B15	69202485	0.998000	0.40836	1.000000	0.80357	0.419000	0.31324	4.192000	0.58378	1.421000	0.47157	0.455000	0.32223	GGC		0.463	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		6	506	0	0	0	1	0	6	506					T	69519890	C	T	69519890	3	4	484	1	0	0	0	0	1	0	0	0	16955	739	26	2	2039	2	UGT2B15	4	69519890	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	31927281	69519890	121634386	12	39305											
KLHL2	11275	broad.mit.edu	37	chr4	166239115	166239115	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagcacagggagaagtTatgcaggtaacagttgtctc	13	6	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:166239115T>G	ENST00000226725.6	+	14	2006	c.1747T>G	c.(1747-1749)Tat>Gat	p.Y583D	KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	583					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGGGAGAAGTTATGCAGGTAA	0.368																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1747-1749)Tat>Gat		kelch-like family member 2							142	138	139					4																	166239115		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166239115T>G	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1747T>G	4.37:g.166239115T>G	ENSP00000226725:p.Tyr583Asp					KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D	p.Y583D	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	14	2006	+	all_hematologic(180;0.221)		583					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1747T>G	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098354	0.56183	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.73897	-0.2;-0.2;-0.79;-0.2;-0.54	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.61387	1.9	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	0.84046	0.0367	10	0.44086	T	0.13	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	587;583;583	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	D	583;587;495;486;417	ENSP00000226725:Y583D;ENSP00000424198:Y587D;ENSP00000437526:Y495D;ENSP00000408974:Y486D;ENSP00000424108:Y417D	ENSP00000226725:Y583D	Y	+	1	0	KLHL2	166458565	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	TAT		0.368	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			44	57	0	0	0	1	0	44	57					G	166239115	T	G	166239115	3	3	484	1	0	0	0	0	1	0	0	0	8374	1754	61	5	1843	5	KLHL2	4	166239115	Missense_Mutation	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	96719225	166239115	24915161	13	39306											
RAD50	10111	broad.mit.edu	37	chr5	131915673	131915673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagcttgtgagattcGtgatcagattacaagtaagg	12	4	1	3	rs28903088	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:131915673G>A	ENST00000265335.6	+	5	1058	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RAD50_ENST00000378823.3_Missense_Mutation_p.R85H|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	224			R -> H (in dbSNP:rs28903088). {ECO:0000269|PubMed:14684699}.		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)			TGTGAGATTCGTGATCAGATT	0.348								Homologous recombination																														ENST00000378823.3																			0				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	GRCh37	CM033673	RAD50	M	rs28903088	c.(253-255)cGt>cAt	Homologous recombination	RAD50 homolog (S. cerevisiae)		G	HIS/ARG	0,4406		0,0,2203	102	108	106		671	4.1	1	5	dbSNP_125	106	8,8592	7.1+/-27.0	0,8,4292	yes	missense	RAD50	NM_005732.3	29	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	possibly-damaging	224/1313	131915673	8,12998	2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915673G>A	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.671G>A	5.37:g.131915673G>A	ENSP00000265335:p.Arg224His					RAD50_ENST00000265335.6_Missense_Mutation_p.R224H|RAD50_ENST00000487596.1_3'UTR	p.R85H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1072	+		all_cancers(142;0.0368)|Breast(839;0.198)	224					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.254G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003742	0.74932	0.0	9.3E-4	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.08807	3.34;3.05;3.05	5.84	4.05	0.47172	.	0.122041	0.64402	D	0.000009	T	0.16981	0.0408	L	0.46157	1.445	0.48341	D	0.999639	D	0.89917	1.0	D	0.67725	0.953	T	0.00984	-1.1491	10	0.62326	D	0.03	-5.0874	6.1623	0.20370	0.3189:0.0:0.6811:0.0	rs28903088;rs28903088	224	Q92878	RAD50_HUMAN	H	85;224;224	ENSP00000368100:R85H;ENSP00000265335:R224H;ENSP00000400049:R224H	ENSP00000265335:R224H	R	+	2	0	RAD50	131943572	0.999000	0.42202	0.972000	0.41901	0.999000	0.98932	3.363000	0.52321	1.474000	0.48178	0.655000	0.94253	CGT		0.348	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		90	192	0	0	0	1	0	90	192					A	131915673	G	A	131915673	3	1	484	1	0	0	0	0	1	0	0	0	12984	1145	40	1	689	1	RAD50	5	131915673	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		131915673	48999587	14	39307											
BAK1	578	broad.mit.edu	37	chr6	33543199	33543199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgatgatggcgagctgccGtcccacctgccccatggtgc	12	17	0	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:33543199G>A	ENST00000374467.3	-	4	474	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	BAK1_ENST00000442998.2_Missense_Mutation_p.R76W|BAK1_ENST00000360661.5_Missense_Mutation_p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	76					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCGAGCTGCCGTCCCACCTGC	0.617																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(226-228)Cgg>Tgg		BCL2-antagonist/killer 1							106	81	89					6																	33543199		2203	4300	6503	SO:0001583	missense	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543199G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.226C>T	6.37:g.33543199G>A	ENSP00000363591:p.Arg76Trp					BAK1_ENST00000360661.5_Missense_Mutation_p.R76W|BAK1_ENST00000442998.2_Missense_Mutation_p.R76W	p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			4	474	-			76					C0H5Y7|Q6I9T6|Q92533	Missense_Mutation	SNP	ENST00000374467.3	37	c.226C>T	CCDS4781.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079097	0.55753	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000442998;ENST00000360661	T;T;T	0.04654	3.58;3.58;3.58	4.41	2.63	0.31362	Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);	0.110712	0.39341	N	0.001388	T	0.06690	0.0171	M	0.64997	1.995	0.33612	D	0.603652	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.09640	-1.0665	10	0.87932	D	0	-19.7966	3.741	0.08530	0.2039:0.0:0.6032:0.1929	.	76;76	B4E0L2;Q16611	.;BAK_HUMAN	W	56;76;76;76	ENSP00000363591:R76W;ENSP00000391258:R76W;ENSP00000353878:R76W	ENSP00000353878:R76W	R	-	1	2	BAK1	33651177	0.936000	0.31750	0.523000	0.27875	0.957000	0.61999	1.834000	0.39171	0.517000	0.28361	0.543000	0.68304	CGG		0.617	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		4	90	0	0	0	1	0	4	90					A	33543199	G	A	33543199	3	1	484	1	0	0	0	0	1	0	0	0	1305	1144	40	1	421	1	BAK1	6	33543199	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		33543199	137571868	15	39308											
ECT2L	345930	broad.mit.edu	37	chr6	139175261	139175261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaagaagggggtcacGtggacttcttcgtgcccctt	13	10	2	3	rs372903555		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:139175261G>A	ENST00000423192.1	+	9	1329	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.V321M|ECT2L_ENST00000367682.2_Missense_Mutation_p.V390M			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	390							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						AGGGGGTCACGTGGACTTCTT	0.448			"N, Splice, Mis"		ETP ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.001					ENST00000423192.1				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				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						c.(1168-1170)Gtg>Atg		epithelial cell transforming sequence 2 oncogene-like		G	MET/VAL,MET/VAL	0,3766		0,0,1883	197	193	194		1168,1168	4.8	1	6		194	1,8201		0,1,4100	no	missense,missense	ECT2L	NM_001077706.2,NM_001195037.2	21,21	0,1,5983	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	390/905,390/905	139175261	1,11967	1883	4101	5984	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139175261G>A		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.1168G>A	6.37:g.139175261G>A	ENSP00000387388:p.Val390Met					ECT2L_ENST00000367682.2_Missense_Mutation_p.V390M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.V321M	p.V390M			Q008S8	ECT2L_HUMAN			9	1329	+			390					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1168G>A	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915643	0.52546	0.0	1.22E-4	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79554	-0.16;-0.16;-1.28	5.65	4.77	0.60923	.	0.175173	0.23644	U	0.046000	T	0.81602	0.4857	M	0.69823	2.125	0.29568	N	0.850156	D;D	0.71674	0.998;0.991	P;P	0.62014	0.897;0.636	T	0.76340	-0.2995	10	0.49607	T	0.09	4.0791	9.3203	0.37959	0.1575:0.0:0.8425:0.0	.	321;390	F5H7S9;Q008S8	.;ECT2L_HUMAN	M	390;390;321	ENSP00000387388:V390M;ENSP00000356655:V390M;ENSP00000442307:V321M	ENSP00000356655:V390M	V	+	1	0	ECT2L	139216954	0.996000	0.38824	0.966000	0.40874	0.972000	0.66771	2.577000	0.46042	2.674000	0.91012	0.655000	0.94253	GTG		0.448	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		5	436	0	0	0	1	0	5	436					A	139175261	G	A	139175261	3	1	484	1	0	0	0	0	1	0	0	0	4902	1145	40	1	1198	1	ECT2L	6	139175261	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	105632062	139175261	31939806	16	39309											
GPER	2852	broad.mit.edu	37	chr7	1131651	1131651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaccatccccgaccTgtacttcatcaacctggcgg	9	14	2	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:1131651T>C	ENST00000297469.3	+	2	978	c.287T>C	c.(286-288)cTg>cCg	p.L96P	GPER1_ENST00000401670.1_Missense_Mutation_p.L96P|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397092.1_Missense_Mutation_p.L96P|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.L96P|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	96					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										ATCCCCGACCTGTACTTCATC	0.577																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(286-288)cTg>cCg									124	107	113					7																	1131651		2202	4300	6502	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131651T>C	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.287T>C	7.37:g.1131651T>C	ENSP00000297469:p.Leu96Pro					C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.L96P|GPER_ENST00000297469.3_Missense_Mutation_p.L96P|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.L96P	p.L96P	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1171	+		Ovarian(82;0.0253)	96					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.287T>C	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403932	0.83230	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.074057	0.56097	D	0.000036	D	0.86020	0.5833	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87896	0.2687	10	0.87932	D	0	-15.0404	14.7598	0.69596	0.0:0.0:0.0:1.0	.	96	Q99527	GPER_HUMAN	P	96	ENSP00000385151:L96P;ENSP00000380281:L96P;ENSP00000297469:L96P;ENSP00000380277:L96P	ENSP00000297469:L96P	L	+	2	0	GPER	1098177	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.482000	0.81143	2.089000	0.63090	0.523000	0.50628	CTG		0.577	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		39	65	0	0	0	1	0	39	65					C	1131651	T	C	1131651	3	2	484	1	0	0	0	0	1	0	0	0	6607	1580	55	3	289	3	GPER	7	1131651	Missense_Mutation	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08		1131651	158007012	17	39310											
OR6B1	135946	broad.mit.edu	37	chr7	143701454	143701454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgccatggcctatgaccGgtatgtggccatctgtcgcc	13	14	1	1	rs541875791		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:143701454G>A	ENST00000408922.2	+	1	433	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	122						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTATGACCGGTATGTGGCC	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23697	0.0		0.0	False		,,,				2504	0.0					ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(364-366)cGg>cAg		olfactory receptor, family 6, subfamily B, member 1							100	104	103					7																	143701454		2168	4288	6456	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701454G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.365G>A	7.37:g.143701454G>A	ENSP00000386151:p.Arg122Gln						p.R122Q	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	433	+	Melanoma(164;0.0783)		122					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.365G>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995258	0.74703	.	.	ENSG00000221813	ENST00000408922	T	0.76968	-1.06	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	U	0.002066	D	0.90635	0.7063	M	0.92784	3.345	0.45528	D	0.998481	D	0.89917	1.0	D	0.87578	0.998	D	0.92566	0.6062	10	0.87932	D	0	.	16.1397	0.81513	0.0:0.0:1.0:0.0	.	122	O95007	OR6B1_HUMAN	Q	122	ENSP00000386151:R122Q	ENSP00000386151:R122Q	R	+	2	0	OR6B1	143332387	1.000000	0.71417	0.939000	0.37840	0.235000	0.25334	6.491000	0.73649	2.671000	0.90904	0.563000	0.77884	CGG		0.522	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			4	178	0	0	0	1	0	4	178					A	143701454	G	A	143701454	3	1	484	1	0	0	0	0	1	0	0	0	11187	1116	39	1	367	1	OR6B1	7	143701454	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	142569803	143701454	15437209	18	39311											
POLR1E	64425	broad.mit.edu	37	chr9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggtgctctgggacctGgagttccccacatcatcaac	10	12	3	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377798.4	+	10	1014	c.901G>A	c.(901-903)Gga>Aga	p.G301R	POLR1E_ENST00000377792.3_Missense_Mutation_p.G363R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					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)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483																																					Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(1087-1089)Gga>Aga		polymerase (RNA) I polypeptide E, 53kDa							138	116	124					9																	37500851		2203	4300	6503	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37500851G>A	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.901G>A	9.37:g.37500851G>A	ENSP00000367029:p.Gly301Arg					POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R	p.G363R			Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	9	1375	+			363					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.1087G>A	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855654	0.71834	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.21031	2.03;2.03;2.03	5.59	5.59	0.84812	.	0.213327	0.49305	D	0.000146	T	0.41166	0.1147	L	0.59436	1.845	0.52501	D	0.99995	P;D;P	0.53745	0.934;0.962;0.642	P;P;P	0.61003	0.882;0.882;0.603	T	0.01537	-1.1330	10	0.33141	T	0.24	-10.7557	18.7303	0.91733	0.0:0.0:1.0:0.0	.	231;363;301	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	R	301;231;363	ENSP00000367029:G301R;ENSP00000399887:G231R;ENSP00000367023:G363R	ENSP00000367023:G363R	G	+	1	0	POLR1E	37490851	1.000000	0.71417	0.842000	0.33263	0.314000	0.28054	7.083000	0.76859	2.793000	0.96121	0.561000	0.74099	GGA		0.483	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		43	48	0	0	0	1	0	43	48					A	37500851	G	A	37500851	3	1	484	1	0	0	0	0	1	0	0	0	12213	1349	47	2	939	2	POLR1E	9	37500851	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		37500851	103712580	19	39312											
COL5A1	1289	broad.mit.edu	37	chr9	137591840	137591840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggtctccatctacaaCgagcagggtatccagcagat	9	12	2	1	rs369180922		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(361-363)aaC>aaT		collagen, type V, alpha 1		C		0,4406		0,0,2203	91	91	91		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T						COL5A1_ENST00000464187.1_3'UTR	p.N121N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	777	+		Myeloproliferative disorder(178;0.0341)	121			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.363C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		47	84	0	0	0	1	0	47	84					T	137591840	C	T	137591840	2	4	484	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	100090989	137591840	3621591	20	39313											
ALOX5	240	broad.mit.edu	37	chr10	45941070	45941072	+	In_Frame_Del	DEL	AAG	AAG	-													gcgtgattgctgagcgcaacAagaagaagcagctgccatat							TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:45941070_45941072delAAG	ENST00000374391.2	+	14	2013_2015	c.1960_1962delAAG	c.(1960-1962)aagdel	p.K656del	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	656	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)	TGAGCGCAACAAGAAGAAGCAGC	0.547																																						ENST00000374391.2																			0				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						c.(1960-1962)del		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)																																			SO:0001651	inframe_deletion	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941070_45941072delAAG	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.1960_1962delAAG	10.37:g.45941076_45941078delAAG	ENSP00000363512:p.Lys656del					RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del	p.K656del	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			14	2013_2015	+		Lung SC(717;0.0257)	656			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	In_Frame_Del	DEL	ENST00000374391.2	37	c.1960_1962delAAG	CCDS7212.1																																																																																				0.547	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			57	146						57	146	---	---	---	---	-	45941072	AAG	-	45941070	7	5	484	1	0	1	0	1	0	0	0	0	540	131	5	0	2014	0	ALOX5	10	45941070	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RK-01A-11D-A33T-08		45941070	89593677	21	39314											
OR4A5	81318	broad.mit.edu	37	chr11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taggaaagtttgaaacaggtCtaacatatatgaaaatacag	8	4	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257						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)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(769-771)aGa>aCa		olfactory receptor, family 4, subfamily A, member 5							52	52	52					11																	51411626		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411626C>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.770G>C	11.37:g.51411626C>G	ENSP00000367664:p.Arg257Thr						p.R257T	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	822	-		all_lung(304;0.236)	257					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.770G>C	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.129	0.782715	0.16189	.	.	ENSG00000221840	ENST00000319760	T	0.37584	1.19	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.55940	0.1952	M	0.85299	2.745	0.20563	N	0.999888	D	0.89917	1.0	D	0.80764	0.994	T	0.41288	-0.9517	10	0.87932	D	0	.	4.8929	0.13735	0.0:0.8206:0.0:0.1794	.	257	Q8NH83	OR4A5_HUMAN	T	257	ENSP00000367664:R257T	ENSP00000367664:R257T	R	-	2	0	OR4A5	51268202	0.000000	0.05858	0.695000	0.30226	0.053000	0.15095	-0.078000	0.11375	1.554000	0.49487	0.162000	0.16502	AGA		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		47	70	0	0	0	1	0	47	70					G	51411626	C	G	51411626	3	3	484	1	0	0	0	0	1	0	0	0	11043	913	32	4	181	4	OR4A5	11	51411626	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		51411626	83594890	22	39315											
OR5T1	390155	broad.mit.edu	37	chr11	56043714	56043714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctgcttgctatttcTtgttctgacactcacgtaat	5	13	4	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398																																						ENST00000313033.2																			1	Substitution - coding silent(1)	p.S200S(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(598-600)tcT>tcC		olfactory receptor, family 5, subfamily T, member 1							236	224	228					11																	56043714		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043714T>C	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.600T>C	11.37:g.56043714T>C							p.S200S	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	686	+	Esophageal squamous(21;0.00448)		200					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.600T>C	CCDS31525.1																																																																																				0.398	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		171	234	0	0	0	1	0	171	234					C	56043714	T	C	56043714	2	2	484	1	0	0	0	0	0	0	0	1	11181	1596	56	3		3	OR5T1	11	56043714	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	4632088	56043714	78962802	23	39316											
MLL	4297	broad.mit.edu	37	chr11	118373222	118373222	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtacctcttccttatcaccCcagcggtccaaactccggat	6	16	2	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:118373222C>G	ENST00000389506.5	+	27	6606	c.6606C>G	c.(6604-6606)ccC>ccG	p.P2202P	KMT2A_ENST00000354520.4_Silent_p.P2164P|KMT2A_ENST00000534358.1_Silent_p.P2205P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2202					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)										CCTTATCACCCCAGCGGTCCA	0.498																																						ENST00000534358.1																			0											c.(6613-6615)ccC>ccG		lysine (K)-specific methyltransferase 2A							84	79	81					11																	118373222		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118373222C>G	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.6606C>G	11.37:g.118373222C>G						KMT2A_ENST00000354520.4_Silent_p.P2164P|KMT2A_ENST00000389506.5_Silent_p.P2202P	p.P2205P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	6638	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.6615C>G	CCDS31686.1																																																																																				0.498	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	130	0	0	0	1	0	4	130					G	118373222	C	G	118373222	2	3	484	1	0	0	0	0	0	0	0	1	9620	610	22	4		4	MLL	11	118373222	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	62329508	118373222	16633294	24	39317											
LRRIQ1	84125	broad.mit.edu	37	chr12	85623368	85623368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaatagagaatatacataCcaatggcttcacacacaggt	8	9	1	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:85623368C>T	ENST00000393217.2	+	25	4957	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1632										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)		AATATACATACCAATGGCTTC	0.358																																						ENST00000393217.2																			0				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						c.(4894-4896)taC>taT		leucine-rich repeats and IQ motif containing 1							115	110	111					12																	85623368		1833	4087	5920	SO:0001819	synonymous_variant	84125							g.chr12:85623368C>T	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.4896C>T	12.37:g.85623368C>T						LRRIQ1_ENST00000528777.3_3'UTR	p.Y1632Y	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	25	4957	+			1632					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4896C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	7.878	0.729540	0.15507	.	.	ENSG00000133640	ENST00000526363	.	.	.	5.6	3.78	0.43462	.	.	.	.	.	T	0.59142	0.2172	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54662	-0.8260	4	.	.	.	.	9.0105	0.36137	0.0:0.7731:0.0:0.2269	.	.	.	.	I	53	.	.	T	+	2	0	LRRIQ1	84147499	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.751000	0.26348	0.841000	0.35020	0.650000	0.86243	ACC		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		62	118	0	0	0	1	0	62	118					T	85623368	C	T	85623368	2	4	484	1	0	0	0	0	0	0	0	1	9029	518	18	2		2	LRRIQ1	12	85623368	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		85623368	48228527	25	39318											
C12orf29	91298	broad.mit.edu	37	chr12	88442074	88442076	+	In_Frame_Del	DEL	GTT	GTT	-													cttacatgaattcaagaccaGttattatcaacatgaacctg							TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:88442074_88442076delGTT	ENST00000356891.3	+	7	1056_1058	c.853_855delGTT	c.(853-855)gttdel	p.V285del		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	285					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						TTCAAGACCAGTTATTATCAACA	0.335																																						ENST00000356891.3																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(853-855)del		chromosome 12 open reading frame 29																																				SO:0001651	inframe_deletion	91298							g.chr12:88442074_88442076delGTT	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.853_855delGTT	12.37:g.88442074_88442076delGTT	ENSP00000349358:p.Val285del						p.V285del	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN			7	1056_1058	+			285					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	In_Frame_Del	DEL	ENST00000356891.3	37	c.853_855delGTT	CCDS31866.1																																																																																				0.335	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		52	119						52	119	---	---	---	---	-	88442076	GTT	-	88442074	7	5	484	1	0	1	0	1	0	0	0	0	1680	1029	36	0	879	0	C12orf29	12	88442074	In_Frame_Del	DEL	GTT	TCGA-TQ-A7RK-01A-11D-A33T-08	2818706	88442074	45409821	26	39319											
G2E3	55632	broad.mit.edu	37	chr14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagagttaggattccaaattAaaaaaaaaactaaaagattg	6	3	0	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1072-1074)Aaa>Taa		G2/M-phase specific E3 ubiquitin protein ligase							26	28	27					14																	31074772		2193	4291	6484	SO:0001587	stop_gained	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074772A>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1072A>T	14.37:g.31074772A>T	ENSP00000206595:p.Lys358*					G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*	p.K358*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1226	+			358					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	ENST00000206595.6	37	c.1072A>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	48	14.922180	0.99815	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.66	5.66	0.87406	.	0.397439	0.28895	N	0.013781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5027	14.7694	0.69665	1.0:0.0:0.0:0.0	.	.	.	.	X	358;312;388	.	ENSP00000206595:K358X	K	+	1	0	G2E3	30144523	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.378000	0.52432	2.284000	0.76573	0.528000	0.53228	AAA		0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		22	35	0	0	0	1	0	22	35					T	31074772	A	T	31074772	4	4	484	1	0	0	0	0	0	1	0	0	6140	363	13	5	1110	5	G2E3	14	31074772	Nonsense_Mutation	SNP	A	TCGA-TQ-A7RK-01A-11D-A33T-08		31074772	76274768	27	39320											
THBS1	7057	broad.mit.edu	37	chr15	39885616	39885616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttatgatgagtttaatgCtgtggacttcagtggcacct	12	6	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr15:39885616C>T	ENST00000260356.5	+	19	3179	c.3014C>T	c.(3013-3015)gCt>gTt	p.A1005V	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1005	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GAGTTTAATGCTGTGGACTTC	0.488																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3013-3015)gCt>gTt		thrombospondin 1	Becaplermin(DB00102)						244	253	250					15																	39885616		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885616C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3014C>T	15.37:g.39885616C>T	ENSP00000260356:p.Ala1005Val						p.A1005V	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3179	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1005			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3014C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289195	0.95517	.	.	ENSG00000137801	ENST00000260356	D	0.91180	-2.8	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35903	N	0.002903	D	0.93416	0.7900	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.62955	0.909;0.827	D	0.93206	0.6596	10	0.56958	D	0.05	-17.4428	19.9729	0.97289	0.0:1.0:0.0:0.0	.	920;1005	B4E3J7;P07996	.;TSP1_HUMAN	V	1005	ENSP00000260356:A1005V	ENSP00000260356:A1005V	A	+	2	0	THBS1	37672908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.714000	0.92807	0.655000	0.94253	GCT		0.488	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		9	667	0	0	0	1	0	9	667					T	39885616	C	T	39885616	3	4	484	1	0	0	0	0	1	0	0	0	15850	797	28	2	3084	2	THBS1	15	39885616	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		39885616	62645776	28	39321											
KLHDC4	54758	broad.mit.edu	37	chr16	87782360	87782360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctctccgttgggagagGcaaactcccctccaaagacc	9	15	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr16:87782360G>A	ENST00000270583.5	-	5	483	c.425C>T	c.(424-426)gCc>gTc	p.A142V	KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V|RP11-278A23.2_ENST00000563036.1_RNA	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	142										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTTGGGAGAGGCAAACTCCCC	0.547																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(424-426)gCc>gTc		kelch domain containing 4							178	172	174					16																	87782360		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87782360G>A	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.425C>T	16.37:g.87782360G>A	ENSP00000270583:p.Ala142Val					KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V	p.A142V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	483	-			142					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.425C>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255213	0.95336	.	.	ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170	T;T;T	0.08720	3.78;3.06;3.61	4.97	4.97	0.65823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.85130	0.828;0.997;0.994	T	0.00402	-1.1762	10	0.38643	T	0.18	-8.8646	17.5767	0.87952	0.0:0.0:1.0:0.0	.	85;142;142	Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;KLDC4_HUMAN	V	142;142;85	ENSP00000270583:A142V;ENSP00000325717:A142V;ENSP00000262530:A85V	ENSP00000270583:A142V	A	-	2	0	KLHDC4	86339861	1.000000	0.71417	0.951000	0.38953	0.967000	0.64934	8.891000	0.92485	2.450000	0.82876	0.561000	0.74099	GCC		0.547	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		5	327	0	0	0	1	0	5	327					A	87782360	G	A	87782360	3	1	484	1	0	0	0	0	1	0	0	0	8358	1203	42	2	1165	2	KLHDC4	16	87782360	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		87782360	2572393	29	39322											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575|rs397516437		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	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	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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)				TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		104	5	0	0	0	1	0	104	5					T	7577548	C	T	7577548	3	4	484	1	0	0	0	0	1	0	0	0	16378	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		7577548	73617662	30	39323											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-													ttcacctggcccaacaccagCcccccaccacctgagaccac							TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185					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)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(553-555)agfs		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							87	83	84					17																	48917204		2203	4300	6503	SO:0001589	frameshift_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917204delC	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.555delC	17.37:g.48917204delC	ENSP00000311184:p.Ser185fs					WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	p.S185fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1083	+			185					Q6UXZ9	Frame_Shift_Del	DEL	ENST00000311378.4	37	c.555delC	CCDS11575.1																																																																																				0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		29	73						29	73	---	---	---	---	-	48917204	C	-	48917204	7	5	484	1	0	1	0	1	0	0	0	0	17356	738	26	0	561	0	WFIKKN2	17	48917204	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RK-01A-11D-A33T-08	41339656	48917204	32278006	31	39324											
GH2	2689	broad.mit.edu	37	chr17	61958759	61958759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccagctggtacaggcgaCgggcgcggagcatagcgttg	17	10	0	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:61958759C>T	ENST00000423893.2	-	2	192	c.131G>A	c.(130-132)cGt>cAt	p.R44H	GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000332800.7_Missense_Mutation_p.R44H|GH2_ENST00000449787.2_Missense_Mutation_p.R44H			P01242	SOM2_HUMAN	growth hormone 2	44				Missing (in Ref. 12; AA sequence). {ECO:0000305}.	JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTACAGGCGACGGGCGCGGAG	0.572																																						ENST00000332800.7																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(130-132)cGt>cAt		growth hormone 2							156	173	167					17																	61958759		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958759C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.131G>A	17.37:g.61958759C>T	ENSP00000409294:p.Arg44His					GH2_ENST00000449787.2_Missense_Mutation_p.R44H|GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000423893.2_Missense_Mutation_p.R44H	p.R44H	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			2	264	-			44	Missing (in Ref. 6; AA sequence).				B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.131G>A	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.346492	0.00219	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	2.93	0.486	0.16836	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.177556	0.50627	N	0.000112	T	0.08044	0.0201	N	0.00197	-1.87	0.19775	N	0.999953	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.001	T	0.39522	-0.9610	10	0.07030	T	0.85	.	6.9777	0.24686	0.0:0.2083:0.0:0.7917	.	44;44;44;44;44	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	H	44	ENSP00000333157:R44H;ENSP00000394122:R44H;ENSP00000409294:R44H;ENSP00000410618:R44H	ENSP00000333157:R44H	R	-	2	0	GH2	59312491	1.000000	0.71417	0.996000	0.52242	0.002000	0.02628	3.436000	0.52856	-0.043000	0.13513	-1.893000	0.00533	CGT		0.572	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		6	852	0	0	0	1	0	6	852					T	61958759	C	T	61958759	3	4	484	1	0	0	0	0	1	0	0	0	6368	536	19	1	875	1	GH2	17	61958759	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	13041555	61958759	19236451	32	39325											
KCTD1	284252	broad.mit.edu	37	chr18	24128223	24128225	+	Intron	DEL	TCC	TCC	-													ccagccccatctcctcctctTcctcctcctcctcgtcctcc					rs143299522	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:24128223_24128225delTCC	ENST00000408011.3	-	1	545				KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_In_Frame_Del_p.92_93EE>E	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655														134	0.0267572	0.0673	0.0086	5008	,	,		6875	0.0		0.008	False		,,,				2504	0.0317					ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(274-279)gaa>ga		potassium channel tetramerization domain containing 1			,,	187,3139		43,101,1519					,,	-0.1	1		dbSNP_134	4	78,6614		13,52,3281	no	intron,coding,intron	KCTD1	NM_198991.2,NM_001142730.1,NM_001136205.1	,,	56,153,4800	A1A1,A1R,RR		1.1656,5.6224,2.6452	,,	,,		265,9753				SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128223_24128225delTCC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+629GGA>-	18.37:g.24128232_24128234delTCC						KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	p.EE94del	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	275_277	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	In_Frame_Del	DEL	ENST00000408011.3	37	c.276_278delGGA	CCDS11888.1																																																																																				0.655	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		2	4						2	4	---	---	---	---	-	24128225	TCC	-	24128223	6	5	484	0	1	1	0	1	0	0	0	0	8096	1783	62	0		0	KCTD1	18	24128223	Intron	DEL	TCC	TCGA-TQ-A7RK-01A-11D-A33T-08		24128223	53949025	33	39326											
SETBP1	26040	broad.mit.edu	37	chr18	42532372	42532372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaagcgtggtaggcctGcaaaaaccaatgacaccatg	11	9	0	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:42532372G>A	ENST00000282030.5	+	4	3363	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1023						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)		TGGTAGGCCTGCAAAAACCAA	0.448									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				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						c.(3067-3069)Gca>Aca		SET binding protein 1							85	76	79					18																	42532372		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532372G>A	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.3067G>A	18.37:g.42532372G>A	ENSP00000282030:p.Ala1023Thr						p.A1023T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3363	+			1023					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3067G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427734	0.62733	.	.	ENSG00000152217	ENST00000282030	D	0.92446	-3.04	5.82	5.82	0.92795	AT hook, DNA-binding motif (1);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	N	0.24115	0.695	0.51012	D	0.999904	D	0.89917	1.0	D	0.76575	0.988	D	0.93633	0.6958	10	0.52906	T	0.07	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	1023	Q9Y6X0	SETBP_HUMAN	T	1023	ENSP00000282030:A1023T	ENSP00000282030:A1023T	A	+	1	0	SETBP1	40786370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.976000	0.88070	2.761000	0.94854	0.655000	0.94253	GCA		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	165	0	0	0	1	0	4	165					A	42532372	G	A	42532372	3	1	484	1	0	0	0	0	1	0	0	0	14129	1319	46	2	3270	2	SETBP1	18	42532372	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18404149	42532372	35544876	34	39327											
DOCK6	57572	broad.mit.edu	37	chr19	11346350	11346350	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgtgggcagtgaccGcgggcatcctgggctgcctc	16	14	0	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:11346350G>T	ENST00000294618.7	-	21	2489	c.2478C>A	c.(2476-2478)cgC>cgA	p.R826R	C19orf80_ENST00000591200.1_5'Flank|DOCK6_ENST00000319867.7_Silent_p.R130R|RN7SL298P_ENST00000581369.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	826			R -> C (in dbSNP:rs35881692).		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						GGCAGTGACCGCGGGCATCCT	0.617																																						ENST00000294618.7																			0				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						c.(2476-2478)cgC>cgA		dedicator of cytokinesis 6							19	23	22					19																	11346350		2103	4228	6331	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11346350G>T		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.2478C>A	19.37:g.11346350G>T						DOCK6_ENST00000319867.7_Silent_p.R130R	p.R826R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			21	2489	-			826		R -> C (in dbSNP:rs35881692).			A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.2478C>A	CCDS45975.1																																																																																				0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	38	1	0	1	1	1	3	38					T	11346350	G	T	11346350	2	4	484	1	0	0	0	0	0	0	0	1	4691	1074	38	4		4	DOCK6	19	11346350	Silent	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		11346350	47782633	35	39328											
SLC1A6	6511	broad.mit.edu	37	chr19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaattgagtcccccagtaCgttggtcattgtgcgaagcc	10	12	1	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000221742.3	-	9	1532	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V445I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					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)	p.V509I(1)		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						TCCCCCAGTACGTTGGTCATT	0.577																																						ENST00000430939.2																			1	Substitution - Missense(1)	p.V509I(1)	large_intestine(1)	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						c.(1333-1335)Gta>Ata		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						56	53	54					19																	15061177		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061177C>T		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.1525G>A	19.37:g.15061177C>T	ENSP00000221742:p.Val509Ile					SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I	p.V445I			P48664	EAA4_HUMAN			9	1462	-			509					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1333G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.619932	0.87460	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.67523	-0.27;-0.27	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.954	T	0.80457	-0.1374	10	0.87932	D	0	-29.072	16.7235	0.85416	0.0:1.0:0.0:0.0	.	445;509	E7EV13;P48664	.;EAA4_HUMAN	I	445;509	ENSP00000409386:V445I;ENSP00000221742:V509I	ENSP00000221742:V509I	V	-	1	0	SLC1A6	14922177	1.000000	0.71417	0.929000	0.37066	0.613000	0.37349	7.604000	0.82830	2.555000	0.86185	0.544000	0.68410	GTA		0.577	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		33	66	0	0	0	1	0	33	66					T	15061177	C	T	15061177	3	4	484	1	0	0	0	0	1	0	0	0	14436	536	19	1	173	1	SLC1A6	19	15061177	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	3714827	15061177	44067806	36	39329											
CPAMD8	27151	broad.mit.edu	37	chr19	17038819	17038819	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgtgggacagacgcacCgatgatggaggcggtggctc	18	9	0	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						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						ACAGACGCACCGATGATGGAG	0.637																																						ENST00000443236.1																			0				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						c.e25+1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							41	48	46					19																	17038819		2045	4186	6231	SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17038819C>T	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.3511+1G>A	19.37:g.17038819C>T							p.G1171_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			25	3542	-			1124					Q8NC09|Q9ULD7	Splice_Site	SNP	ENST00000443236.1	37	c.3511_splice	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676759	0.47886	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.02	3.02	0.34903	.	0.074140	0.53938	U	0.000044	D	0.83482	0.5264	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87038	0.2139	8	.	.	.	.	13.9882	0.64348	0.0:1.0:0.0:0.0	.	1124	Q8IZJ3	CPMD8_HUMAN	R	1171	.	.	G	-	1	0	CPAMD8	16899819	1.000000	0.71417	0.030000	0.17652	0.011000	0.07611	6.465000	0.73538	1.237000	0.43756	0.655000	0.94253	GGG		0.637	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Missense_Mutation	43	66	0	0	0	1	0	43	66					T	17038819	C	T	17038819	5	4	484	1	0	0	0	0	0	0	1	0	3795	666	23	1	2359	1	CPAMD8	19	17038819	Splice_Site	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	1977642	17038819	42090164	37	39330											
ZNF512B	57473	broad.mit.edu	37	chr20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtacgggtttggtgaccgGcacagacttggtgactgtga	16	7	0	4			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(793-795)Ccg>Tcg		zinc finger protein 512B							380	396	391					20																	62597735		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597735G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.793C>T	20.37:g.62597735G>A	ENSP00000393795:p.Pro265Ser					ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S	p.P265S			Q96KM6	Z512B_HUMAN			5	853	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		265					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.793C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123279	0.06795	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.55	0.0704	0.14378	.	0.871399	0.09535	N	0.788968	T	0.14056	0.0340	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31475	-0.9942	10	0.62326	D	0.03	-4.9126	1.5918	0.02656	0.1931:0.1639:0.4745:0.1684	.	265	Q96KM6	Z512B_HUMAN	S	265	ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S	ENSP00000217130:P265S	P	-	1	0	ZNF512B	62068179	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.302000	0.19192	0.133000	0.18654	0.650000	0.86243	CCG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	806	0	0	0	1	0	6	806					A	62597735	G	A	62597735	3	1	484	1	0	0	0	0	1	0	0	0	17954	1203	42	2	1937	2	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		62597735	427785	38	39331											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagggcgtgcaggagctgGtgcagcctgattggcagggg	20	8	0	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(214-216)aCc>aTc		keratin associated protein 10-1							44	51	49					21																	45959819		2197	4290	6487	SO:0001583	missense	386677					keratin filament		g.chr21:45959819G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.215C>T	21.37:g.45959819G>A	ENSP00000383226:p.Thr72Ile					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.T72I	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	259	-			72			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.215C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	2.677	-0.276175	0.05679	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00856	5.61	2.87	0.849	0.18972	.	.	.	.	.	T	0.02571	0.0078	M	0.73962	2.25	0.09310	N	1	P	0.50369	0.934	P	0.50314	0.637	T	0.35748	-0.9776	9	0.66056	D	0.02	.	9.5849	0.39510	0.0:0.4182:0.5818:0.0	.	72	P60331	KR101_HUMAN	I	72	ENSP00000383226:T72I	ENSP00000383226:T72I	T	-	2	0	KRTAP10-1	44784247	0.000000	0.05858	0.165000	0.22776	0.527000	0.34593	-0.068000	0.11561	0.064000	0.16427	0.491000	0.48974	ACC		0.711	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			5	212	0	0	0	1	0	5	212					A	45959819	G	A	45959819	3	1	484	1	0	0	0	0	1	0	0	0	8505	1261	44	2	637	2	KRTAP10-1	21	45959819	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		45959819	2170076	39	39332											
MN1	4330	broad.mit.edu	37	chr22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-													acctctcaaagaacacaccaTgctgctgctgctgctgctgg							TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309					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						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				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						c.(925-930)cat>ca		meningioma (disrupted in balanced translocation) 1				53,2821		10,33,1394						2.8	0.9			2	95,5897		15,65,2916	no	coding	MN1	NM_002430.2		25,98,4310	A1A1,A1R,RR		1.5854,1.8441,1.6693				148,8718				SO:0001651	inframe_deletion	4330						binding	g.chr22:28195603_28195605delTGC	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.927_929delGCA	22.37:g.28195612_28195614delTGC	ENSP00000304956:p.Gln309del						p.QH309del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1881_1883	-			309					A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.927_929delGCA	CCDS42998.1																																																																																				0.64	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		2	4						2	4	---	---	---	---	-	28195605	TGC	-	28195603	7	5	484	1	0	1	0	1	0	0	0	0	9673	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-TQ-A7RK-01A-11D-A33T-08		28195603	23108963	40	39333											
PPARA	5465	broad.mit.edu	37	chr22	46627789	46627789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaggaggcggaggtccGcatctttcactgctgccagt	13	11	2	0	rs371950309		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:46627789G>A	ENST00000396000.2	+	7	1077	c.812G>A	c.(811-813)cGc>cAc	p.R271H	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000407236.1_Missense_Mutation_p.R271H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	271					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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 repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GCGGAGGTCCGCATCTTTCAC	0.557																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(811-813)cGc>cAc		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	80	62	68		812,812	5.5	1	22		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PPARA	NM_001001928.2,NM_005036.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	271/469,271/469	46627789	1,13005	2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627789G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.812G>A	22.37:g.46627789G>A	ENSP00000379322:p.Arg271His					PPARA_ENST00000407236.1_Missense_Mutation_p.R271H|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H	p.R271H			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1077	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	271					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.812G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725179	0.89298	0.0	1.16E-4	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	N	0.17312	0.475	0.80722	D	1	B;P	0.46020	0.194;0.871	B;P	0.46275	0.03;0.51	T	0.54450	-0.8292	10	0.20046	T	0.44	.	18.3591	0.90368	0.0:0.0:1.0:0.0	.	52;271	F5H1U1;Q07869	.;PPARA_HUMAN	H	271;271;52;271;271	ENSP00000379322:R271H;ENSP00000262735:R271H;ENSP00000385523:R271H;ENSP00000385246:R271H	ENSP00000262735:R271H	R	+	2	0	PPARA	45006453	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.438000	0.66550	2.576000	0.86940	0.655000	0.94253	CGC		0.557	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		4	112	0	0	0	1	0	4	112					A	46627789	G	A	46627789	3	1	484	1	0	0	0	0	1	0	0	0	12297	1087	38	1	830	1	PPARA	22	46627789	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18432186	46627789	4676777	41	39334											
MXRA5	25878	broad.mit.edu	37	chrX	3235706	3235706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggaaagggtccggttttCgtgcagggtgatgcggccct	17	8	0	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					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)				GTCCGGTTTTCGTGCAGGGTG	0.622																																						ENST00000217939.6																			0				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						c.(6016-6018)Gaa>Aaa		matrix-remodelling associated 5							41	37	39					X																	3235706		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235706C>T	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.6016G>A	X.37:g.3235706C>T	ENSP00000217939:p.Glu2006Lys						p.E2006K	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6170	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2006			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6016G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	9.939	1.216938	0.22373	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.78246	-1.16	3.55	0.47	0.16747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.484707	0.14991	U	0.286696	T	0.66626	0.2808	L	0.39085	1.19	0.09310	N	1	P	0.49185	0.92	P	0.45639	0.488	T	0.56980	-0.7889	10	0.19590	T	0.45	.	7.6632	0.28415	0.0:0.6037:0.3042:0.0921	.	2006	Q9NR99	MXRA5_HUMAN	K	2006	ENSP00000217939:E2006K	ENSP00000217939:E2006K	E	-	1	0	MXRA5	3245706	0.623000	0.27094	0.665000	0.29768	0.427000	0.31564	0.246000	0.18160	0.008000	0.14787	-0.238000	0.12139	GAA		0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		22	21	0	0	0	1	0	22	21					T	3235706	C	T	3235706	3	4	484	1	0	0	0	0	1	0	0	0	10003	893	31	1	2478	1	MXRA5	23	3235706	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		3235706	152034854	42	39335											
ATRX	546	broad.mit.edu	37	chrX	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcactggatgaatcttcttGaaccttaatacgtcgccttt	6	10	3	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					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						GAATCTTCTTGAACCTTAATA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4291-4293)Caa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						256	216	230					X																	76909614		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909614G>A	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.4291C>T	X.37:g.76909614G>A	ENSP00000362441:p.Gln1431*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*	p.Q1431*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4505	-			1431					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4291C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	46	12.152583	0.99641	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	5.41	0.78517	.	0.153838	0.43919	D	0.000506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.1277	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	1431;1393	.	ENSP00000362441:Q1431X	Q	-	1	0	ATRX	76796270	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.682000	0.84083	2.396000	0.81511	0.502000	0.49764	CAA		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		113	18	0	0	0	1	0	113	18					A	76909614	G	A	76909614	4	1	484	1	0	0	0	0	0	1	0	0	1208	1299	45	2	3275	2	ATRX	23	76909614	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	73673908	76909614	78360946	43	39336											
UBE2NL	389898	broad.mit.edu	37	chrX	142967509	142967509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccagccctgcagatcCgcacagttctgctatcgatc	9	16	1	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:142967509C>T	ENST00000370494.1	+	1	337	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	103						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R103C(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGATCCGCACAGTTCT	0.423																																						ENST00000370494.1																			1	Substitution - Missense(1)	p.R103C(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(307-309)Cgc>Tgc		ubiquitin-conjugating enzyme E2N-like							108	94	99					X																	142967509		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967509C>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.307C>T	X.37:g.142967509C>T	ENSP00000359525:p.Arg103Cys						p.R103C	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	337	+	Acute lymphoblastic leukemia(192;6.56e-05)		103					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.307C>T	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	3.542	-0.093443	0.07053	.	.	ENSG00000102069	ENST00000370494	T	0.39056	1.1	1.16	-0.908	0.10517	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.265427	0.19850	U	0.104652	T	0.49762	0.1576	M	0.92412	3.305	0.80722	D	1	P	0.35612	0.512	B	0.41466	0.358	T	0.44726	-0.9309	10	0.66056	D	0.02	11.1641	3.4429	0.07470	0.2395:0.5766:0.0:0.1839	.	103	Q5JXB2	UE2NL_HUMAN	C	103	ENSP00000359525:R103C	ENSP00000359525:R103C	R	+	1	0	UBE2NL	142795175	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	3.460000	0.53028	-0.490000	0.06707	-1.274000	0.01402	CGC		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		4	110	0	0	0	1	0	4	110					T	142967509	C	T	142967509	3	4	484	1	0	0	0	0	1	0	0	0	16864	652	23	1	309	1	UBE2NL	23	142967509	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	66057895	142967509	12303051	44	39337											
FBXO42	54455	broad.mit.edu	37	chr1	16577865	16577865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctggtagtgatcctcgtCggggggccaaagaaagtcct	14	9	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:16577865C>T	ENST00000375592.3	-	10	1670	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										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)		TGATCCTCGTCGGGGGGCCAA	0.483																																						ENST00000375592.3																			0				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						c.(1453-1455)cGa>cAa		F-box protein 42							55	59	58					1																	16577865		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577865C>T	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.1454G>A	1.37:g.16577865C>T	ENSP00000364742:p.Arg485Gln						p.R485Q	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		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)	10	1670	-		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)	485					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1454G>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422896	0.62733	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.56103	3.7;0.48;0.48	5.51	5.51	0.81932	.	0.226096	0.38326	N	0.001739	T	0.28632	0.0709	N	0.08118	0	0.58432	D	0.999993	D	0.59767	0.986	B	0.35039	0.194	T	0.19910	-1.0291	10	0.13853	T	0.58	-9.7159	18.7669	0.91876	0.0:1.0:0.0:0.0	.	485	Q6P3S6	FBX42_HUMAN	Q	485;203;203	ENSP00000364742:R485Q;ENSP00000415663:R203Q;ENSP00000412416:R203Q	ENSP00000364742:R485Q	R	-	2	0	FBXO42	16450452	0.984000	0.35163	0.528000	0.27938	0.875000	0.50365	4.568000	0.60857	2.763000	0.94921	0.650000	0.86243	CGA		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			75	82	0	0	0	1	0	75	82					T	16577865	C	T	16577865	3	4	485	1	0	0	0	0	1	0	0	0	5751	884	31	1	703	1	FBXO42	1	16577865	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		16577865	232672756	1	39338											
KIF2C	11004	broad.mit.edu	37	chr1	45223763	45223763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaccctgctaccggaAgttgggcctggaagtctatg	12	10	2	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:45223763A>G	ENST00000372224.4	+	13	1288	c.1175A>G	c.(1174-1176)aAg>aGg	p.K392R	KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372217.1_Missense_Mutation_p.K338R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R|RP11-269F19.2_ENST00000440985.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	392	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)|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)					TGCTACCGGAAGTTGGGCCTG	0.522																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1012-1014)aAg>aGg		kinesin family member 2C							138	130	133					1																	45223763		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45223763A>G	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.1175A>G	1.37:g.45223763A>G	ENSP00000361298:p.Lys392Arg					KIF2C_ENST00000372224.4_Missense_Mutation_p.K392R|KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R	p.K338R			Q99661	KIF2C_HUMAN			12	1364	+	Acute lymphoblastic leukemia(166;0.155)		392			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1013A>G	CCDS512.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555171	0.45487	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.9	0.649	0.17806	Kinesin, motor domain (4);	0.528659	0.22985	N	0.053272	T	0.09905	0.0243	L	0.32530	0.975	0.20703	N	0.999864	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.19666	0.021;0.009;0.026	T	0.22487	-1.0215	10	0.33940	T	0.23	.	2.1144	0.03710	0.4667:0.1234:0.2904:0.1195	.	351;338;392	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	R	392;351;279;338	ENSP00000361298:K392R;ENSP00000361292:K351R;ENSP00000361296:K279R;ENSP00000361291:K338R	ENSP00000361291:K338R	K	+	2	0	KIF2C	44996350	0.071000	0.21146	0.994000	0.49952	0.925000	0.55904	0.717000	0.25851	0.128000	0.18479	0.482000	0.46254	AAG		0.522	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		104	135	0	0	0	1	0	104	135					G	45223763	A	G	45223763	3	3	485	1	0	0	0	0	1	0	0	0	8299	72	3	3	1225	3	KIF2C	1	45223763	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	28645898	45223763	204026858	2	39339											
C8B	732	broad.mit.edu	37	chr1	57397487	57397487	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccaattaacttactcttCcgataggagacctcacaggc	6	12	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:57397487C>T	ENST00000371237.4	-	11	1683	c.1617G>A	c.(1615-1617)cgG>cgA	p.R539R	C8B_ENST00000543257.1_Silent_p.R487R|C8B_ENST00000535057.1_Silent_p.R477R	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	539					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						ACTTACTCTTCCGATAGGAGA	0.502																																						ENST00000543257.1																			0				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						c.(1459-1461)cgG>cgA		complement component 8, beta polypeptide							75	66	69					1																	57397487		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57397487C>T	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.1617G>A	1.37:g.57397487C>T						C8B_ENST00000535057.1_Silent_p.R477R|C8B_ENST00000371237.4_Silent_p.R539R	p.R487R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			12	2027	-			539			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.1461G>A	CCDS30730.1																																																																																				0.502	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			16	56	0	0	0	1	0	16	56					T	57397487	C	T	57397487	2	4	485	1	0	0	0	0	0	0	0	1	2417	842	30	2		2	C8B	1	57397487	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12173724	57397487	191853134	3	39340											
GFI1	2672	broad.mit.edu	37	chr1	92941692	92941692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaagcctgtgtgtttgCggctgtgggtgatgaggttg	18	5	0	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:92941692C>T	ENST00000370332.1	-	7	1481	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GFI1_ENST00000294702.5_Missense_Mutation_p.R388H|GFI1_ENST00000427103.1_Missense_Mutation_p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	388					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGTGTTTGCGGCTGTGGGT	0.622																																						ENST00000370332.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1162-1164)cGc>cAc		growth factor independent 1 transcription repressor							70	60	64					1																	92941692		2203	4300	6503	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92941692C>T	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.1163G>A	1.37:g.92941692C>T	ENSP00000359357:p.Arg388His					GFI1_ENST00000427103.1_Missense_Mutation_p.R388H|GFI1_ENST00000294702.5_Missense_Mutation_p.R388H	p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	7	1481	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	388					Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.1163G>A	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790457	0.90367	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.25749	1.78;1.78;1.78	5.6	4.68	0.58851	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	0.46249	0.1383	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57602	-0.7783	10	0.87932	D	0	-33.3767	14.2135	0.65779	0.0:0.9283:0.0:0.0717	.	388	Q99684	GFI1_HUMAN	H	388	ENSP00000359357:R388H;ENSP00000399719:R388H;ENSP00000294702:R388H	ENSP00000294702:R388H	R	-	2	0	GFI1	92714280	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.877000	0.69675	1.358000	0.45922	0.655000	0.94253	CGC		0.622	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		20	24	0	0	0	1	0	20	24					T	92941692	C	T	92941692	3	4	485	1	0	0	0	0	1	0	0	0	6339	768	27	1	109	1	GFI1	1	92941692	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	35544205	92941692	156308929	4	39341											
LRRC39	127495	broad.mit.edu	37	chr1	100621829	100621829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggattgtagtaaaatcGttcatactcagatcaaggtg	11	5	3	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:100621829G>A	ENST00000370137.1	-	7	756	c.558C>T	c.(556-558)aaC>aaT	p.N186N	LRRC39_ENST00000370138.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	186										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTAAAATCGTTCATACTCA	0.383																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(556-558)aaC>aaT		leucine rich repeat containing 39							112	103	106					1																	100621829		2203	4300	6503	SO:0001819	synonymous_variant	127495							g.chr1:100621829G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.558C>T	1.37:g.100621829G>A						LRRC39_ENST00000370137.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	p.N186N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	756	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	186					B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	c.558C>T	CCDS766.1																																																																																				0.383	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		5	110	0	0	0	1	0	5	110					A	100621829	G	A	100621829	2	1	485	1	0	0	0	0	0	0	0	1	8995	1136	40	1		1	LRRC39	1	100621829	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	7680137	100621829	148628792	5	39342											
OTUD7B	56957	broad.mit.edu	37	chr1	149919215	149919215	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatgcagcagatgcaatttGacctctagggacagaattac	9	9	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:149919215G>A	ENST00000369135.4	-	11	1554	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	420	Catalytic.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GATGCAATTTGACCTCTAGGG	0.418																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1258-1260)gtC>gtT		OTU domain containing 7B							100	95	96					1																	149919215		1907	4121	6028	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149919215G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1260C>T	1.37:g.149919215G>A							p.V420V	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		11	1554	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		420			Catalytic.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.1260C>T	CCDS41389.1																																																																																				0.418	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		40	46	0	0	0	1	0	40	46					A	149919215	G	A	149919215	2	1	485	1	0	0	0	0	0	0	0	1	11319	1277	45	2		2	OTUD7B	1	149919215	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	49297386	149919215	99331406	6	39343											
FLG2	388698	broad.mit.edu	37	chr1	152324115	152324115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccggcttggccatgagcGtgtcctgaatgtgtgtgtga	15	8	0	3	rs146074268	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152324115G>A	ENST00000388718.5	-	3	6219	c.6147C>T	c.(6145-6147)caC>caT	p.H2049H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2049					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)			GGCCATGAGCGTGTCCTGAAT	0.532																																						ENST00000388718.5																			0				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						c.(6145-6147)caC>caT		filaggrin family member 2		G		1,4405	2.1+/-5.4	0,1,2202	502	455	471		6147	-1.8	0	1	dbSNP_134	471	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG2	NM_001014342.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		2049/2392	152324115	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324115G>A	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.6147C>T	1.37:g.152324115G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H2049H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6219	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2049					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6147C>T	CCDS30861.1																																																																																				0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		15	969	0	0	0	1	0	15	969					A	152324115	G	A	152324115	2	1	485	1	0	0	0	0	0	0	0	1	5923	1136	40	1		1	FLG2	1	152324115	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2404900	152324115	96926506	7	39344											
LCE1C	353133	broad.mit.edu	37	chr1	152777784	152777784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggagccacagctgccCccagagctggagccacagca	13	15	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152777784C>T	ENST00000607093.1	-	1	170	c.171G>A	c.(169-171)ggG>ggA	p.G57G	LCE1C_ENST00000368768.1_Silent_p.G57G			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	57	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCTGCCCCCAGAGCTGG	0.667																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(169-171)ggG>ggA		late cornified envelope 1C							40	45	43					1																	152777784		2202	4299	6501	SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777784C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.171G>A	1.37:g.152777784C>T						LCE1C_ENST00000607093.1_Silent_p.G57G	p.G57G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	221	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		57			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.171G>A	CCDS1026.1																																																																																				0.667	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		82	82	0	0	0	1	0	82	82					T	152777784	C	T	152777784	2	4	485	1	0	0	0	0	0	0	0	1	8661	610	22	2		2	LCE1C	1	152777784	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	453669	152777784	96472837	8	39345											
THBS3	7059	broad.mit.edu	37	chr1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgataggaggtcttgtcccGccagcccacatttcgtgggt	13	12	1	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000436772.1_RNA|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			GTCTTGTCCCGCCAGCCCACA	0.622																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2614-2616)Cgg>Tgg		thrombospondin 3							90	80	83					1																	155166890		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155166890G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2614C>T	1.37:g.155166890G>A	ENSP00000357362:p.Arg872Trp					THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000487250.1_Intron|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W	p.R872W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	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)		21	2634	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		872			TSP C-terminal.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2614C>T	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908421	0.72868	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.54	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.374331	0.22104	N	0.064572	D	0.88633	0.6489	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61658	0.892;0.849;0.849;0.849	D	0.89704	0.3907	10	0.87932	D	0	-10.671	9.8486	0.41043	0.0:0.0:0.627:0.373	.	752;872;872;872	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	W	872;269;752;401	ENSP00000357362:R872W;ENSP00000444792:R269W;ENSP00000392207:R752W;ENSP00000437353:R401W	ENSP00000357362:R872W	R	-	1	2	THBS3	153433514	0.998000	0.40836	0.996000	0.52242	0.963000	0.63663	2.659000	0.46741	1.237000	0.43756	0.591000	0.81541	CGG		0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		4	133	0	0	0	1	0	4	133					A	155166890	G	A	155166890	3	1	485	1	0	0	0	0	1	0	0	0	15852	1086	38	1	268	1	THBS3	1	155166890	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2389106	155166890	94083731	9	39346											
HHIPL2	79802	broad.mit.edu	37	chr1	222721259	222721259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgtaatccaggcactggGggtgtccctgcagcaagccc	13	15	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:222721259G>T	ENST00000343410.6	-	1	186	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	43					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)		CAGGCACTGGGGGTGTCCCTG	0.602																																						ENST00000343410.6																			0				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						c.(127-129)cCc>cAc		HHIP-like 2							33	37	36					1																	222721259		1918	4133	6051	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721259G>T	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.128C>A	1.37:g.222721259G>T	ENSP00000342118:p.Pro43His						p.P43H	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	186	-			43					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.128C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224954	0.79576	.	.	ENSG00000143512	ENST00000343410	T	0.55413	0.52	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73914	-0.3832	10	0.87932	D	0	-22.8411	18.1545	0.89687	0.0:0.0:1.0:0.0	.	43	Q6UWX4	HIPL2_HUMAN	H	43	ENSP00000342118:P43H	ENSP00000342118:P43H	P	-	2	0	HHIPL2	220787882	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.424000	0.80242	2.250000	0.74265	0.655000	0.94253	CCC		0.602	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		14	70	1	0	9.31168e-06	1	9.97091e-06	14	70					T	222721259	G	T	222721259	3	4	485	1	0	0	0	0	1	0	0	0	7094	1232	43	4	2082	4	HHIPL2	1	222721259	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	67554369	222721259	26529362	10	39347											
OR2G2	81470	broad.mit.edu	37	chr1	247752473	247752473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccaagagtagatccaGggaccagggcaagtttgttt	13	9	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:247752473G>A	ENST00000320065.1	+	1	812	c.812G>A	c.(811-813)aGg>aAg	p.R271K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTAGATCCAGGGACCAGGGC	0.478																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(811-813)aGg>aAg		olfactory receptor, family 2, subfamily G, member 2							140	133	135					1																	247752473		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752473G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.812G>A	1.37:g.247752473G>A	ENSP00000326349:p.Arg271Lys					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R271K	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	812	+	all_cancers(71;3.24e-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)		271					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.812G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469670	0.12461	.	.	ENSG00000177489	ENST00000320065	T	0.00091	8.74	4.29	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.626296	0.12731	N	0.443833	T	0.00073	0.0002	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02676	-1.1125	10	0.25106	T	0.35	.	3.4555	0.07514	0.5709:0.0:0.1042:0.3249	.	271	Q8NGZ5	OR2G2_HUMAN	K	271	ENSP00000326349:R271K	ENSP00000326349:R271K	R	+	2	0	OR2G2	245819096	0.000000	0.05858	0.674000	0.29902	0.808000	0.45660	-3.262000	0.00535	0.692000	0.31613	-0.356000	0.07607	AGG		0.478	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			205	143	0	0	0	1	0	205	143					A	247752473	G	A	247752473	3	1	485	1	0	0	0	0	1	0	0	0	10998	1000	35	2	814	2	OR2G2	1	247752473	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	25031214	247752473	1498148	11	39348											
C2orf16	84226	broad.mit.edu	37	chr2	27804907	27804907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttggagaggagccatcGcagtccctctgagaggagat	13	10	2	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:27804907G>A	ENST00000408964.2	+	1	5519	c.5468G>A	c.(5467-5469)cGc>cAc	p.R1823H	AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1823	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCATCGCAGTCCCTCT	0.552																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5467-5469)cGc>cAc		chromosome 2 open reading frame 16							93	95	95					2																	27804907		1914	4115	6029	SO:0001583	missense	84226							g.chr2:27804907G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5468G>A	2.37:g.27804907G>A	ENSP00000386190:p.Arg1823His						p.R1823H	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5519	+	Acute lymphoblastic leukemia(172;0.155)		1823			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5468G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	12.61	1.988745	0.35131	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	2.93	-1.97	0.07503	.	.	.	.	.	T	0.02418	0.0074	N	0.04508	-0.205	0.09310	N	1	B	0.21688	0.059	B	0.10450	0.005	T	0.45731	-0.9241	9	0.27082	T	0.32	.	4.2797	0.10827	0.5715:0.0:0.2537:0.1748	.	1823	Q68DN1	CB016_HUMAN	H	1823	ENSP00000386190:R1823H	ENSP00000386190:R1823H	R	+	2	0	C2orf16	27658411	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-3.891000	0.00341	-0.499000	0.06623	0.462000	0.41574	CGC		0.552	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		106	145	0	0	0	1	0	106	145					A	27804907	G	A	27804907	3	1	485	1	0	0	0	0	1	0	0	0	2157	1087	38	1	5470	1	C2orf16	2	27804907	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		27804907	215394466	12	39349											
SOS1	6654	broad.mit.edu	37	chr2	39283896	39283896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtaatttcataatgccGtatatttcttacataattcc	3	7	2	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:39283896G>A	ENST00000426016.1	-	5	543	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SOS1_ENST00000402219.2_Missense_Mutation_p.R153W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000428721.2_Missense_Mutation_p.R96W			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	153					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATAATGCCGTATATTTCTT	0.308									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(457-459)Cgg>Tgg		son of sevenless homolog 1 (Drosophila)							164	181	175					2																	39283896		2203	4299	6502	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39283896G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.457C>T	2.37:g.39283896G>A	ENSP00000387784:p.Arg153Trp					SOS1_ENST00000428721.2_Missense_Mutation_p.R96W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000402219.2_Missense_Mutation_p.R153W	p.R153W			Q07889	SOS1_HUMAN			5	543	-		all_hematologic(82;0.21)	153					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.457C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262940	0.80358	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.94	5.01	0.66863	Histone-fold (2);Histone core (1);	0.051321	0.64402	D	0.000001	T	0.80160	0.4572	M	0.76170	2.325	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.81525	-0.0893	10	0.87932	D	0	.	12.3872	0.55338	0.0:0.0:0.679:0.321	.	153	Q07889	SOS1_HUMAN	W	153;153;153;153;96;96	ENSP00000387784:R153W;ENSP00000384675:R153W;ENSP00000378479:R153W;ENSP00000399992:R96W;ENSP00000393899:R96W	ENSP00000263879:R153W	R	-	1	2	SOS1	39137400	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.794000	0.62482	2.812000	0.96745	0.557000	0.71058	CGG		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		5	557	0	0	0	1	0	5	557					A	39283896	G	A	39283896	3	1	485	1	0	0	0	0	1	0	0	0	14936	1144	40	1	3624	1	SOS1	2	39283896	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	11478989	39283896	203915477	13	39350											
SPTBN1	6711	broad.mit.edu	37	chr2	54877008	54877008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaggagatctttgggcGtatacaggacaaacacaaga	11	8	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:54877008G>A	ENST00000356805.4	+	26	5740	c.5459G>A	c.(5458-5460)cGt>cAt	p.R1820H	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R1807H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1820	Interaction with ANK2.				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)			ATCTTTGGGCGTATACAGGAC	0.483																																						ENST00000333896.5																			0				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						c.(5419-5421)cGt>cAt		spectrin, beta, non-erythrocytic 1							89	87	88					2																	54877008		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54877008G>A		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.5459G>A	2.37:g.54877008G>A	ENSP00000349259:p.Arg1820His					SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1820H	p.R1807H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		25	5805	+			1820			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5420G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520903	0.96416	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50001	0.76;0.76	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.76727	2.345	0.80722	D	1	B;B	0.32781	0.148;0.384	B;B	0.23852	0.019;0.049	T	0.52533	-0.8563	10	0.49607	T	0.09	.	20.2932	0.98544	0.0:0.0:1.0:0.0	.	1807;1820	Q01082-3;Q01082	.;SPTB2_HUMAN	H	1820;1807	ENSP00000349259:R1820H;ENSP00000334156:R1807H	ENSP00000334156:R1807H	R	+	2	0	SPTBN1	54730512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.756000	0.85195	2.803000	0.96430	0.555000	0.69702	CGT		0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	141	0	0	0	1	0	4	141					A	54877008	G	A	54877008	3	1	485	1	0	0	0	0	1	0	0	0	15118	1145	40	1	5670	1	SPTBN1	2	54877008	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	15593112	54877008	188322365	14	39351											
TGOLN2	10618	broad.mit.edu	37	chr2	85554507	85554507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgtcttttgtggtctgCgcctccgaacccgacttgct	11	13	2	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:85554507C>T	ENST00000409232.3	-	2	409	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000377386.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					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)											TTGTGGTCTGCGCCTCCGAAC	0.572																																						ENST00000377386.3																			0											c.(346-348)gcG>gcA		trans-golgi network protein 2							384	382	383					2																	85554507		1999	4165	6164	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554507C>T	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.348G>A	2.37:g.85554507C>T						TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A	p.A116A			O43493	TGON2_HUMAN			2	810	-			116			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.348G>A	CCDS56126.1																																																																																				0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		8	1409	0	0	0	1	0	8	1409					T	85554507	C	T	85554507	2	4	485	1	0	0	0	0	0	0	0	1	15833	755	27	1		1	TGOLN2	2	85554507	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	30677499	85554507	157644866	15	39352											
ZAP70	7535	broad.mit.edu	37	chr2	98349621	98349621	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctgaaggcggacgggCtcatctactgcctgaaggag	15	9	2	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:98349621C>G	ENST00000264972.5	+	6	951	c.736C>G	c.(736-738)Ctc>Gtc	p.L246V	ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	246	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						GGCGGACGGGCTCATCTACTG	0.682																																						ENST00000264972.5																			0				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						c.(736-738)Ctc>Gtc		zeta-chain (TCR) associated protein kinase 70kDa							38	40	40					2																	98349621		2203	4299	6502	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349621C>G	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.736C>G	2.37:g.98349621C>G	ENSP00000264972:p.Leu246Val					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V	p.L246V	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			6	951	+			246			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.736C>G	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053587	0.75960	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.94457	-3.43;-3.43	5.34	5.34	0.76211	SH2 motif (2);	0.000000	0.44483	D	0.000447	D	0.95956	0.8683	M	0.92555	3.32	0.54753	D	0.999988	D;P	0.53745	0.962;0.87	P;B	0.46917	0.531;0.259	D	0.96276	0.9202	10	0.87932	D	0	.	11.9349	0.52868	0.1738:0.8262:0.0:0.0	.	120;246	P43403-3;P43403	.;ZAP70_HUMAN	V	246;120	ENSP00000264972:L246V;ENSP00000411141:L120V	ENSP00000264972:L246V	L	+	1	0	ZAP70	97716053	0.998000	0.40836	1.000000	0.80357	0.793000	0.44817	2.060000	0.41394	2.658000	0.90341	0.655000	0.94253	CTC		0.682	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			3	75	0	0	0	1	0	3	75					G	98349621	C	G	98349621	3	3	485	1	0	0	0	0	1	0	0	0	17511	797	28	4	750	4	ZAP70	2	98349621	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12795114	98349621	144849752	16	39353											
PLA2R1	22925	broad.mit.edu	37	chr2	160862319	160862319	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actgatcaaactggtaataaAagcctgttcaaaccttaaaa	5	8	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:160862319A>T	ENST00000283243.7	-	11	1884	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	560	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGGTAATAAAAGCCTGTTCA	0.363																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1678-1680)Ttt>Att		phospholipase A2 receptor 1, 180kDa							89	95	93					2																	160862319		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160862319A>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1678T>A	2.37:g.160862319A>T	ENSP00000283243:p.Phe560Ile					PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			11	1884	-			560			C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1678T>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459221	0.84317	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.12147	2.71;2.71	5.06	5.06	0.68205	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.94142	3.5	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.63314	-0.6665	10	0.54805	T	0.06	.	15.1037	0.72303	1.0:0.0:0.0:0.0	.	560;560;560	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	I	560	ENSP00000283243:F560I;ENSP00000376524:F560I	ENSP00000283243:F560I	F	-	1	0	PLA2R1	160570565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.387000	0.73191	2.034000	0.60081	0.482000	0.46254	TTT		0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			102	164	0	0	0	1	0	102	164					T	160862319	A	T	160862319	3	4	485	1	0	0	0	0	1	0	0	0	12010	14	1	5	2801	5	PLA2R1	2	160862319	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	62512698	160862319	82337054	17	39354											
TTN	7273	broad.mit.edu	37	chr2	179536914	179536914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccacttctgcttctaCtacttctaattctagtcttt	2	12	6	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179536914C>A	ENST00000591111.1	-	151	34113	c.33889G>T	c.(33889-33891)Gta>Tta	p.V11297L	TTN_ENST00000589042.1_Missense_Mutation_p.V11671L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11297	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)			tctgcttctactacttctaat	0.363																																						ENST00000589042.1																			0				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						c.(35011-35013)Gta>Tta		titin							36	31	33					2																	179536914		1782	4006	5788	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179536914C>A	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.33889G>T	2.37:g.179536914C>A	ENSP00000465570:p.Val11297Leu					TTN_ENST00000591111.1_Missense_Mutation_p.V11297L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	p.V11671L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		155	35235	-			11537			Glu-rich.|Pro-rich.		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	ENST00000591111.1	37	c.35011G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.29|12.29	1.894998|1.894998	0.33442|0.33442	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000448510|ENST00000342992	.|T	.|0.70045	.|-0.45	5.11|5.11	3.28|3.28	0.37604|0.37604	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.53722|0.53722	0.1814|0.1814	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.51132|0.51132	-0.8744|-0.8744	5|9	.|0.87932	.|D	.|0	.|.	9.4975|9.4975	0.38997|0.38997	0.0:0.7697:0.0:0.2303|0.0:0.7697:0.0:0.2303	.|.	.|11297	.|Q8WZ42	.|TITIN_HUMAN	I|L	28|10370	.|ENSP00000343764:V10370L	.|ENSP00000343764:V10370L	S|V	-|-	2|1	0|0	TTN|TTN	179245159|179245159	0.000000|0.000000	0.05858|0.05858	0.761000|0.761000	0.31378|0.31378	0.818000|0.818000	0.46254|0.46254	0.086000|0.086000	0.14935|0.14935	1.298000|1.298000	0.44778|0.44778	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	20	1	0	1	1	1	3	20					A	179536914	C	A	179536914	3	1	485	1	0	0	0	0	1	0	0	0	16732	565	20	4	69529	4	TTN	2	179536914	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	18674595	179536914	63662459	18	39355											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			71	76	0	0	0	1	0	71	76					T	209113112	C	T	209113112	3	4	485	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	29576198	209113112	34086261	19	39356											
LTF	4057	broad.mit.edu	37	chr3	46490455	46490455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacttgcgcagctcctgctCgcccaccgcacaccacacga	7	20	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:46490455C>T	ENST00000231751.4	-	9	1406	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	371	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		AGCTCCTGCTCGCCCACCGCA	0.662																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1111-1113)Gag>Aag		lactotransferrin	Pefloxacin(DB00487)						42	37	39					3																	46490455		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46490455C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1111G>A	3.37:g.46490455C>T	ENSP00000231751:p.Glu371Lys					LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	p.E371K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	9	1406	-			371			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1111G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.107071	0.01813	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.85	-9.7	0.00521	.	9.959860	0.00945	N	0.002883	T	0.13756	0.0333	N	0.05510	-0.035	0.09310	N	1	B;B;B	0.29378	0.002;0.243;0.002	B;B;B	0.29785	0.001;0.107;0.001	T	0.11179	-1.0598	10	0.07644	T	0.81	-21.0074	4.4149	0.11452	0.0718:0.2593:0.3297:0.3392	.	371;358;371	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	371;327;371;358	ENSP00000231751:E371K;ENSP00000405719:E327K;ENSP00000405546:E371K;ENSP00000397427:E358K	ENSP00000231751:E371K	E	-	1	0	LTF	46465459	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.573000	0.05874	-4.329000	0.00056	-1.255000	0.01485	GAG		0.662	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		19	26	0	0	0	1	0	19	26					T	46490455	C	T	46490455	3	4	485	1	0	0	0	0	1	0	0	0	9079	893	31	1	1057	1	LTF	3	46490455	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		46490455	151531975	20	39357											
MAP4	4134	broad.mit.edu	37	chr3	47908750	47908750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacattaccacctccagGgacatgcttaatattgtcct	5	12	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:47908750G>A	ENST00000360240.6	-	15	3570	c.3052C>T	c.(3052-3054)Cct>Tct	p.P1018S	MAP4_ENST00000426837.2_Missense_Mutation_p.P2163S|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1018					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)	CCACCTCCAGGGACATGCTTA	0.448																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6487-6489)Cct>Tct		microtubule-associated protein 4							178	149	159					3																	47908750		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47908750G>A		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.3052C>T	3.37:g.47908750G>A	ENSP00000353375:p.Pro1018Ser					MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S	p.P2163S			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	17	6574	-			1018					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.6487C>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542406	0.85917	.	.	ENSG00000047849	ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748	D;D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.18	5.18	0.71444	.	.	.	.	.	D	0.99315	0.9760	M	0.91510	3.215	0.45777	D	0.998665	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.997;0.999	D	0.99013	1.0815	9	0.87932	D	0	-9.0537	17.6972	0.88285	0.0:0.0:1.0:0.0	.	711;738;1018;1018;2163	F8W9U4;P27816-4;P27816-6;P27816;E7EVA0	.;.;.;MAP4_HUMAN;.	S	753;1018;2163;1018;711;346;132	ENSP00000264724:P753S;ENSP00000379083:P1018S;ENSP00000407602:P2163S;ENSP00000353375:P1018S;ENSP00000409731:P711S;ENSP00000334770:P346S;ENSP00000415130:P132S	ENSP00000264724:P753S	P	-	1	0	MAP4	47883754	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.476000	0.97823	2.413000	0.81919	0.563000	0.77884	CCT		0.448	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		125	146	0	0	0	1	0	125	146					A	47908750	G	A	47908750	3	1	485	1	0	0	0	0	1	0	0	0	9258	1232	43	2	577	2	MAP4	3	47908750	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	1418295	47908750	150113680	21	39358											
DZIP3	9666	broad.mit.edu	37	chr3	108351853	108351853	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaatataatgaagcagacGatttgtagttacctagattg	9	5	0	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:108351853G>A	ENST00000361582.3	+	9	980	c.750G>A	c.(748-750)acG>acA	p.T250T	DZIP3_ENST00000463306.1_Silent_p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	250					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						TGAAGCAGACGATTTGTAGTT	0.274																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(748-750)acG>acA		DAZ interacting zinc finger protein 3							129	143	138					3																	108351853		2203	4292	6495	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108351853G>A	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.750G>A	3.37:g.108351853G>A						DZIP3_ENST00000463306.1_Silent_p.T250T	p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			9	980	+			250					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.750G>A	CCDS2952.1																																																																																				0.274	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		5	482	0	0	0	1	0	5	482					A	108351853	G	A	108351853	2	1	485	1	0	0	0	0	0	0	0	1	4865	1045	37	1		1	DZIP3	3	108351853	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	60443103	108351853	89670577	22	39359											
ETV5	2119	broad.mit.edu	37	chr3	185798911	185798911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagacgacagctcagaggAggggctgtgcagctcccgtt	14	11	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:185798911A>G	ENST00000306376.5	-	6	532	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	ETV5_ENST00000434744.1_Missense_Mutation_p.S96P|ETV5_ENST00000537818.1_Missense_Mutation_p.S138P|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	96					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 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(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTCAGAGGAGGGGCTGTGC	0.522			T	"TMPRSS2, SCL45A3"	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"TMPRSS2, SCL45A3"		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(286-288)Tcc>Ccc		ets variant 5							119	122	121					3																	185798911		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185798911A>G	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.286T>C	3.37:g.185798911A>G	ENSP00000306894:p.Ser96Pro					ETV5_ENST00000537818.1_Missense_Mutation_p.S138P|ETV5_ENST00000434744.1_Missense_Mutation_p.S96P	p.S96P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		6	532	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		96					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.286T>C	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919869	0.73098	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.04	5.04	0.67666	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.305463	0.32533	N	0.005965	T	0.51856	0.1699	M	0.70275	2.135	0.47905	D	0.999549	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.995	T	0.49194	-0.8965	10	0.30854	T	0.27	.	12.2934	0.54831	1.0:0.0:0.0:0.0	.	96;138	P41161;B7Z7D7	ETV5_HUMAN;.	P	96;96;138;96;96;96	ENSP00000306894:S96P;ENSP00000413755:S96P;ENSP00000441737:S138P;ENSP00000389707:S96P;ENSP00000412171:S96P;ENSP00000405157:S96P	ENSP00000306894:S96P	S	-	1	0	ETV5	187281605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.908000	0.63307	1.894000	0.54839	0.460000	0.39030	TCC		0.522	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		9	323	0	0	0	1	0	9	323					G	185798911	A	G	185798911	3	3	485	1	0	0	0	0	1	0	0	0	5282	304	11	3	1278	3	ETV5	3	185798911	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	77447058	185798911	12223519	23	39360											
KIAA1530	57654	broad.mit.edu	37	chr4	1343335	1343335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggagcagctgagccGcgcctaccgcctgctgatag	13	13	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:1343335G>A	ENST00000389851.4	+	3	569	c.122G>A	c.(121-123)cGc>cAc	p.R41H	UVSSA_ENST00000507531.1_Missense_Mutation_p.R41H|UVSSA_ENST00000511216.1_Missense_Mutation_p.R41H	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	41	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CAGCTGAGCCGCGCCTACCGC	0.632																																						ENST00000389851.4																			0											c.(121-123)cGc>cAc		UV-stimulated scaffold protein A							56	51	53					4																	1343335		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1343335G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.122G>A	4.37:g.1343335G>A	ENSP00000374501:p.Arg41His					UVSSA_ENST00000511216.1_Missense_Mutation_p.R41H|UVSSA_ENST00000507531.1_Missense_Mutation_p.R41H	p.R41H	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			3	569	+			41					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.122G>A	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.663679	0.00772	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.22336	1.96;1.96;1.96	4.88	-0.51	0.11973	.	0.264234	0.42821	N	0.000644	T	0.02649	0.0080	N	0.00067	-2.295	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.48658	-0.9016	10	0.02654	T	1	.	9.0491	0.36365	0.704:0.0:0.296:0.0	.	41	Q2YD98	K1530_HUMAN	H	41	ENSP00000425130:R41H;ENSP00000374501:R41H;ENSP00000421741:R41H	ENSP00000374501:R41H	R	+	2	0	KIAA1530	1333335	0.936000	0.31750	0.003000	0.11579	0.007000	0.05969	2.370000	0.44240	-0.318000	0.08665	-0.793000	0.03317	CGC		0.632	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		15	55	0	0	0	1	0	15	55					A	1343335	G	A	1343335	3	1	485	1	0	0	0	0	1	0	0	0	8241	1087	38	1	128	1	KIAA1530	4	1343335	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		1343335	189810941	24	39361											
ARAP2	116984	broad.mit.edu	37	chr4	36179548	36179548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatccacatttctcaggtgtAacaacagcttgagactgcga	8	10	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:36179548A>G	ENST00000303965.4	-	9	2247	c.1758T>C	c.(1756-1758)gtT>gtC	p.V586V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	586					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						TCTCAGGTGTAACAACAGCTT	0.393																																						ENST00000303965.4																			0				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						c.(1756-1758)gtT>gtC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							141	137	139					4																	36179548		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36179548A>G	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.1758T>C	4.37:g.36179548A>G							p.V586V	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			9	2247	-			586					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.1758T>C	CCDS3441.1																																																																																				0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		57	167	0	0	0	1	0	57	167					G	36179548	A	G	36179548	2	3	485	1	0	0	0	0	0	0	0	1	839	349	13	3		3	ARAP2	4	36179548	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	34836213	36179548	154974728	25	39362											
GABRB1	2560	broad.mit.edu	37	chr4	47033952	47033952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaatgaacccagcaacatGtcatacgtgaaagagacagt	8	10	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:47033952G>A	ENST00000295454.3	+	2	394	c.102G>A	c.(100-102)atG>atA	p.M34I	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	34					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)	CCAGCAACATGTCATACGTGA	0.453																																						ENST00000295454.3																			0				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						c.(100-102)atG>atA		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						231	225	227					4																	47033952		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033952G>A		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.102G>A	4.37:g.47033952G>A	ENSP00000295454:p.Met34Ile					GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	p.M34I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			2	394	+			34					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.102G>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465213	0.43839	.	.	ENSG00000163288	ENST00000513567;ENST00000295454	T;T	0.79845	-1.28;-1.31	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000002	T	0.72350	0.3449	N	0.14661	0.345	0.80722	D	1	P;B	0.35575	0.51;0.067	P;B	0.45794	0.493;0.029	T	0.68006	-0.5523	10	0.15952	T	0.53	-9.069	14.5119	0.67794	0.0:0.0:1.0:0.0	.	34;34	B4DJD0;P18505	.;GBRB1_HUMAN	I	1;34	ENSP00000426753:M1I;ENSP00000295454:M34I	ENSP00000295454:M34I	M	+	3	0	GABRB1	46728709	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.191000	0.94940	2.238000	0.73509	0.644000	0.83932	ATG		0.453	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			73	272	0	0	0	1	0	73	272					A	47033952	G	A	47033952	3	1	485	1	0	0	0	0	1	0	0	0	6166	1377	48	2	108	2	GABRB1	4	47033952	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10854404	47033952	144120324	26	39363											
CXCL6	6372	broad.mit.edu	37	chr4	74702739	74702739	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttgtttacgcgttacgctGagagtaaaccccaaaacgat	8	10	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:74702739G>A	ENST00000226317.5	+	2	422	c.168G>A	c.(166-168)ctG>ctA	p.L56L	CXCL6_ENST00000515050.1_Silent_p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	56					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGTTACGCTGAGAGTAAACC	0.532																																						ENST00000226317.5																			0				large_intestine(1)|lung(7)	8						c.(166-168)ctG>ctA		chemokine (C-X-C motif) ligand 6							111	128	122					4																	74702739		2203	4300	6503	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702739G>A	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"Endogenous ligands"	10643	protein-coding gene	gene with protein product	"granulocyte chemotactic protein 2"	138965	"small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)", "chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.168G>A	4.37:g.74702739G>A						CXCL6_ENST00000515050.1_Silent_p.L56L	p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	422	+	Breast(15;0.00102)		56					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.168G>A	CCDS3560.1																																																																																				0.532	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		74	7	0	0	0	1	0	74	7					A	74702739	G	A	74702739	2	1	485	1	0	0	0	0	0	0	0	1	4088	1277	45	2		2	CXCL6	4	74702739	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	27668787	74702739	116451537	27	39364											
LIFR	3977	broad.mit.edu	37	chr5	38506633	38506633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagtgtagcttgtagcacGtgggcccaccaacgctgtca	11	11	1	0	rs200967700		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:38506633G>A	ENST00000263409.4	-	8	1255	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTAGCACGTGGGCCCACC	0.418			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1093-1095)Cgt>Tgt		leukemia inhibitory factor receptor alpha							105	101	102					5																	38506633		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38506633G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1093C>T	5.37:g.38506633G>A	ENSP00000263409:p.Arg365Cys					LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			8	1255	-	all_lung(31;0.00021)		365			Fibronectin type-III 2.		Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.1093C>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184077	0.38609	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58358	0.34;0.34	5.38	4.5	0.54988	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.289105	0.33916	N	0.004434	T	0.70237	0.3201	M	0.80847	2.515	0.36391	D	0.862506	D	0.89917	1.0	D	0.64410	0.925	T	0.78597	-0.2142	10	0.72032	D	0.01	-8.8133	12.6029	0.56506	0.0813:0.0:0.9187:0.0	.	365	P42702	LIFR_HUMAN	C	365	ENSP00000263409:R365C;ENSP00000398368:R365C	ENSP00000263409:R365C	R	-	1	0	LIFR	38542390	0.910000	0.30920	0.207000	0.23584	0.009000	0.06853	4.409000	0.59768	2.672000	0.90937	0.650000	0.86243	CGT		0.418	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		67	72	0	0	0	1	0	67	72					A	38506633	G	A	38506633	3	1	485	1	0	0	0	0	1	0	0	0	8780	1145	40	1	2252	1	LIFR	5	38506633	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		38506633	142408627	28	39365											
PTCD2	79810	broad.mit.edu	37	chr5	71616216	71616216	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtagttggtatggtcCgagacagtatggctgctgca	13	8	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:71616216C>T	ENST00000380639.5	+	1	23	c.7C>T	c.(7-9)Cga>Tga	p.R3*	MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000536805.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*|MRPS27_ENST00000522095.1_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	3					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGGTATGGTCCGAGACAGTAT	0.612																																						ENST00000380639.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(7-9)Cga>Tga		pentatricopeptide repeat domain 2							50	58	55					5																	71616216		2194	4292	6486	SO:0001587	stop_gained	79810							g.chr5:71616216C>T	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.7C>T	5.37:g.71616216C>T	ENSP00000370013:p.Arg3*					PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*|PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*	p.R3*	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	1	23	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	3					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Nonsense_Mutation	SNP	ENST00000380639.5	37	c.7C>T	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	30	5.051027	0.93740	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.4	0.262	0.15597	.	1.084470	0.07128	N	0.845006	.	.	.	.	.	.	0.20821	N	0.999842	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2487	0.01978	0.155:0.441:0.1507:0.2534	.	.	.	.	X	3	.	ENSP00000308948:R3X	R	+	1	2	PTCD2	71651972	0.000000	0.05858	0.014000	0.15608	0.027000	0.11550	-0.072000	0.11486	0.109000	0.17891	0.561000	0.74099	CGA		0.612	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		4	106	0	0	0	1	0	4	106					T	71616216	C	T	71616216	4	4	485	1	0	0	0	0	0	1	0	0	12728	644	23	1	9	1	PTCD2	5	71616216	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	33109583	71616216	109299044	29	39366											
SLCO4C1	353189	broad.mit.edu	37	chr5	101575025	101575025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctttaattccacaatcAtttatatcccaaagaataca	2	11	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:101575025A>G	ENST00000310954.6	-	12	2230	c.1944T>C	c.(1942-1944)aaT>aaC	p.N648N		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCCACAATCATTTATATCCC	0.343																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1942-1944)aaT>aaC		solute carrier organic anion transporter family, member 4C1							93	92	92					5																	101575025		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101575025A>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1944T>C	5.37:g.101575025A>G							p.N648N	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	12	2230	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	648						Silent	SNP	ENST00000310954.6	37	c.1944T>C	CCDS34205.1																																																																																				0.343	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		21	122	0	0	0	1	0	21	122					G	101575025	A	G	101575025	2	3	485	1	0	0	0	0	0	0	0	1	14730	214	8	3		3	SLCO4C1	5	101575025	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	29958809	101575025	79340235	30	39367											
FAM50B	26240	broad.mit.edu	37	chr6	3850197	3850197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacaagaggttctcggCgcattacgacgccgtggagg	17	9	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:3850197C>T	ENST00000380274.1	+	1	578	c.152C>T	c.(151-153)gCg>gTg	p.A51V	FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	51						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGGTTCTCGGCGCATTACGAC	0.647																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(151-153)gCg>gTg		family with sequence similarity 50, member B							56	51	53					6																	3850197		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850197C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.152C>T	6.37:g.3850197C>T	ENSP00000369627:p.Ala51Val					FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V	p.A51V			Q9Y247	FA50B_HUMAN			1	578	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	51					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.152C>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701810	0.48307	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	3.29	0.37713	.	0.120892	0.53938	N	0.000043	T	0.32224	0.0822	L	0.60455	1.87	0.40709	D	0.982558	P	0.48294	0.908	B	0.40375	0.327	T	0.20405	-1.0276	9	0.49607	T	0.09	-18.0554	9.945	0.41602	0.0:0.8984:0.0:0.1016	.	51	Q9Y247	FA50B_HUMAN	V	51	.	ENSP00000369625:A51V	A	+	2	0	FAM50B	3795196	0.999000	0.42202	0.104000	0.21259	0.464000	0.32679	4.759000	0.62227	1.104000	0.41587	0.561000	0.74099	GCG		0.647	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	51	0	0	0	1	0	3	51					T	3850197	C	T	3850197	3	4	485	1	0	0	0	0	1	0	0	0	5578	768	27	1	154	1	FAM50B	6	3850197	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		3850197	167264870	31	39368											
GJA1	2697	broad.mit.edu	37	chr6	121769018	121769018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatttccccgatgataaccAgaattctaaaaaactagctg	6	9	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:121769018A>G	ENST00000282561.3	+	2	1182	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	342					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GATGATAACCAGAATTCTAAA	0.498																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(1024-1026)cAg>cGg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						60	66	64					6																	121769018		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121769018A>G	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.1025A>G	6.37:g.121769018A>G	ENSP00000282561:p.Gln342Arg						p.Q342R	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1182	+			342					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.1025A>G	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.150116	0.37923	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.81499	-1.5	4.75	4.75	0.60458	.	0.505748	0.14033	U	0.346012	T	0.59649	0.2209	N	0.24115	0.695	0.47407	D	0.999413	B	0.13145	0.007	B	0.18561	0.022	T	0.58595	-0.7609	10	0.46703	T	0.11	.	14.7045	0.69179	1.0:0.0:0.0:0.0	.	342	P17302	CXA1_HUMAN	R	326;342	ENSP00000282561:Q342R	ENSP00000282561:Q342R	Q	+	2	0	GJA1	121810717	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.921000	0.75805	2.121000	0.65114	0.397000	0.26171	CAG		0.498	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		91	68	0	0	0	1	0	91	68					G	121769018	A	G	121769018	3	3	485	1	0	0	0	0	1	0	0	0	6400	188	7	3	1027	3	GJA1	6	121769018	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	117918821	121769018	49346049	32	39369											
ULBP3	79465	broad.mit.edu	37	chr6	150387113	150387113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctctctcagcatttccaGttgttttccccaggcatctg	6	15	3	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:150387113G>T	ENST00000367339.2	-	2	302	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	92	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AGCATTTCCAGTTGTTTTCCC	0.507																																						ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(274-276)Ctg>Atg		UL16 binding protein 3							166	165	165					6																	150387113		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150387113G>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.274C>A	6.37:g.150387113G>T	ENSP00000356308:p.Leu92Met					ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M	p.L92M			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	2	302	-		Ovarian(120;0.12)	92			MHC class I alpha-1 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.274C>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	g	4.052	0.007282	0.07866	.	.	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.00717	5.79;5.79	3.49	-6.99	0.01605	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00210	0.0006	N	0.25647	0.755	0.09310	N	1	B;B	0.32781	0.384;0.384	B;B	0.39771	0.309;0.309	T	0.40534	-0.9558	9	0.45353	T	0.12	0.2791	1.763	0.02996	0.2716:0.2369:0.36:0.1314	.	92;92	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	M	43;92;92;92	ENSP00000356308:L92M;ENSP00000403562:L92M	ENSP00000253335:L92M	L	-	1	2	ULBP3	150428806	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.588000	0.02106	-3.569000	0.00139	-4.280000	0.00008	CTG		0.507	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			61	201	1	0	2.18419e-29	1	2.49328e-29	61	201					T	150387113	G	T	150387113	3	4	485	1	0	0	0	0	1	0	0	0	16971	1020	36	4	471	4	ULBP3	6	150387113	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	28618095	150387113	20727954	33	39370											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856589	27856589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggggactggaagacaatGttgtctgcagccagcctgct	13	10	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:27856589G>A	ENST00000396319.2	+	15	2105	c.2017G>A	c.(2017-2019)Gtt>Att	p.V673I	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	673					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAAGACAATGTTGTCTGCAG	0.453																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2017-2019)Gtt>Att		Tax1 (human T-cell leukemia virus type I) binding protein 1							81	82	82					7																	27856589		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856589G>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2017G>A	7.37:g.27856589G>A	ENSP00000379612:p.Val673Ile					TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I	p.V673I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		15	2105	+			673					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.2017G>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970588	0.92919	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.54279	1.87;1.87;2.44;0.58;2.44	5.91	5.91	0.95273	.	0.000000	0.48286	D	0.000196	T	0.74107	0.3673	M	0.69823	2.125	0.49299	D	0.99977	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.99;0.997;0.998	T	0.74592	-0.3614	10	0.72032	D	0.01	-16.8094	20.2963	0.98556	0.0:0.0:1.0:0.0	.	474;673;631	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	I	631;631;697;474;673;210	ENSP00000444811:V631I;ENSP00000265393:V631I;ENSP00000386515:V697I;ENSP00000391907:V474I;ENSP00000379612:V673I	ENSP00000265393:V631I	V	+	1	0	TAX1BP1	27823114	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.539000	0.82063	2.813000	0.96785	0.655000	0.94253	GTT		0.453	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		31	264	0	0	0	1	0	31	264					A	27856589	G	A	27856589	3	1	485	1	0	0	0	0	1	0	0	0	15591	1377	48	2	2071	2	TAX1BP1	7	27856589	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		27856589	131282074	34	39371											
TYW1B	441250	broad.mit.edu	37	chr7	72040546	72040546	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgtccttgggatcaaaGcttctttcattggcaccaaa	8	10	3	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:72040546G>C	ENST00000435769.2	-	0	2067				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TGGGATCAAAGCTTCTTTCAT	0.398																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							294	220	242					7																	72040546		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040546G>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040546G>C										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.398	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	216	0	0	0	1	0	4	216					C	72040546	G	C	72040546	1	2	485	0	1	0	0	0	0	0	0	0	16816	962	34	4		4	TYW1B	7	72040546	RNA	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	44183957	72040546	87098117	35	39372											
MUC17	140453	broad.mit.edu	37	chr7	100679419	100679419	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagtgaaggaagcactccActaacaagtttgcctgtcag	9	9	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:100679419A>G	ENST00000306151.4	+	3	4786	c.4722A>G	c.(4720-4722)ccA>ccG	p.P1574P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1574	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)					GAAGCACTCCACTAACAAGTT	0.488																																						ENST00000306151.4																			0				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						c.(4720-4722)ccA>ccG		mucin 17, cell surface associated							266	250	255					7																	100679419		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679419A>G	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.4722A>G	7.37:g.100679419A>G							p.P1574P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4786	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1574			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4722A>G	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	557	0	0	0	1	0	9	557					G	100679419	A	G	100679419	2	3	485	1	0	0	0	0	0	0	0	1	9974	146	6	3		3	MUC17	7	100679419	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	28638873	100679419	58459244	36	39373											
FLNC	2318	broad.mit.edu	37	chr7	128481609	128481609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcaagggagacctgaaGctctatgcccaggtaggtca	14	10	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:128481609G>A	ENST00000325888.8	+	13	2370	c.2109G>A	c.(2107-2109)aaG>aaA	p.K703K	FLNC_ENST00000346177.6_Silent_p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	703					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						GAGACCTGAAGCTCTATGCCC	0.622																																						ENST00000325888.8																			0				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						c.(2107-2109)aaG>aaA		filamin C, gamma							111	117	115					7																	128481609		2049	4197	6246	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481609G>A	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.2109G>A	7.37:g.128481609G>A						FLNC_ENST00000346177.6_Silent_p.K703K	p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			13	2370	+			703					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.2109G>A	CCDS43644.1																																																																																				0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			33	250	0	0	0	1	0	33	250					A	128481609	G	A	128481609	2	1	485	1	0	0	0	0	0	0	0	1	5935	962	34	2		2	FLNC	7	128481609	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	27802190	128481609	30657054	37	39374											
MLL3	58508	broad.mit.edu	37	chr7	151935819	151935819	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgctccaaatggcactgccAggaagctgcctgggtttaaa	11	10	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:151935819A>G	ENST00000262189.6	-	15	2843	c.2625T>C	c.(2623-2625)ccT>ccC	p.P875P	KMT2C_ENST00000355193.2_Silent_p.P875P	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	875					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)										TGGCACTGCCAGGAAGCTGCC	0.423																																						ENST00000355193.2																			0											c.(2623-2625)ccT>ccC		lysine (K)-specific methyltransferase 2C							34	37	36					7																	151935819		2180	4269	6449	SO:0001819	synonymous_variant	58508							g.chr7:151935819A>G	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.2625T>C	7.37:g.151935819A>G						KMT2C_ENST00000262189.6_Silent_p.P875P	p.P875P							15	2843	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2625T>C	CCDS5931.1																																																																																				0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	279	0	0	0	1	0	13	279					G	151935819	A	G	151935819	2	3	485	1	0	0	0	0	0	0	0	1	9622	175	7	3		3	MLL3	7	151935819	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	23454210	151935819	7202844	38	39375											
HOOK3	84376	broad.mit.edu	37	chr8	42829299	42829299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaccattgaagagcttcGttgtgtacaagctcaagaag	11	7	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:42829299G>T	ENST00000307602.4	+	13	1483	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	428					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)			GAAGAGCTTCGTTGTGTACAA	0.408			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				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						c.(1282-1284)cGt>cTt		hook microtubule-tethering protein 3							136	135	135					8																	42829299		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42829299G>T	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.1283G>T	8.37:g.42829299G>T	ENSP00000305699:p.Arg428Leu						p.R428L	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		13	1483	+	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)	428					D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1283G>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649715	0.67358	.	.	ENSG00000168172	ENST00000307602	T	0.24350	1.86	5.76	5.76	0.90799	.	0.170106	0.46758	D	0.000267	T	0.38295	0.1035	L	0.58510	1.815	0.46542	D	0.999092	P	0.44241	0.829	P	0.48454	0.578	T	0.01630	-1.1308	10	0.26408	T	0.33	-11.0922	19.9571	0.97224	0.0:0.0:1.0:0.0	.	428	Q86VS8	HOOK3_HUMAN	L	428	ENSP00000305699:R428L	ENSP00000305699:R428L	R	+	2	0	HOOK3	42948456	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	5.470000	0.66756	2.721000	0.93114	0.655000	0.94253	CGT		0.408	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		10	278	1	0	4.68919e-08	1	5.11164e-08	10	278					T	42829299	G	T	42829299	3	4	485	1	0	0	0	0	1	0	0	0	7284	1145	40	4	1333	4	HOOK3	8	42829299	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		42829299	103534723	39	39376											
CHCHD7	79145	broad.mit.edu	37	chr8	57129008	57129008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaggaatctgatgcttccaCcagatgtctggatgaaaata	9	7	2	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:57129008C>A	ENST00000355315.3	+	3	170	c.71C>A	c.(70-72)aCc>aAc	p.T24N	CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000523975.1_Missense_Mutation_p.T36N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N	NM_001011670.1|NM_001011671.1	NP_001011670.1|NP_001011671.1	Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	24	CHCH.					mitochondrion (GO:0005739)			CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GATGCTTCCACCAGATGTCTG	0.398			T	PLAG1	salivary adenoma																																	ENST00000523975.1				Dom	yes		8	8q11.2	79145	T	coiled-coil-helix-coiled-coil-helix domain containing 7			E	PLAG1		salivary adenoma	CHCHD7/PLAG1(12)	0				endometrium(1)	1						c.(106-108)aCc>aAc		coiled-coil-helix-coiled-coil-helix domain containing 7							93	93	93					8																	57129008		2203	4300	6503	SO:0001583	missense	79145							g.chr8:57129008C>A	AK095922	CCDS34895.1, CCDS34896.1, CCDS6166.2, CCDS55232.1, CCDS55233.1	8q11.23	2012-10-15			ENSG00000170791	ENSG00000170791		"Coiled-coil-helix-coiled-coil-helix domain containing"	28314	protein-coding gene	gene with protein product	"COX23 cytochrome c oxidase assembly homolog (S. cerevisiae)"	611238				20922212, 22842048	Standard	XR_428340		Approved	MGC2217, COX23	uc003xsv.3	Q9BUK0	OTTHUMG00000074081	ENST00000355315.3:c.71C>A	8.37:g.57129008C>A	ENSP00000347469:p.Thr24Asn					CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000355315.3_Missense_Mutation_p.T24N|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N	p.T36N			Q9BUK0	CHCH7_HUMAN	Epithelial(17;0.00159)|all cancers(17;0.0112)		4	255	+		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	24			CHCH.		A8K223|E9PBH3|J3KNE9|Q7Z588	Missense_Mutation	SNP	ENST00000355315.3	37	c.107C>A	CCDS34896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.30|14.30	2.494767|2.494767	0.44352|0.44352	.|.	.|.	ENSG00000170791|ENSG00000170791	ENST00000521831;ENST00000518801;ENST00000521524;ENST00000519367|ENST00000355315;ENST00000303759;ENST00000517636;ENST00000517933;ENST00000523975;ENST00000396723;ENST00000523061	.|T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34	5.64|5.64	3.75|3.75	0.43078|0.43078	.|.	.|0.355260	.|0.29066	.|N	.|0.013258	T|T	0.10508|0.10508	0.0257|0.0257	.|.	.|.	.|.	0.31684|0.31684	N|N	0.642762|0.642762	B;B;B|B;B;B	0.24823|0.23806	0.112;0.112;0.112|0.002;0.091;0.019	B;B;B|B;B;B	0.27380|0.17433	0.019;0.079;0.019|0.007;0.018;0.012	T|T	0.09684|0.09684	-1.0663|-1.0663	7|9	0.87932|0.27785	D|T	0|0.31	.|.	7.5049|7.5049	0.27538|0.27538	0.1094:0.6544:0.1665:0.0698|0.1094:0.6544:0.1665:0.0698	.|.	48;39;51|24;33;36	E5RJ15;E9PBH3;Q9BUK0-3|Q9BUK0;E5RII1;Q9BUK0-2	.;.;.|CHCH7_HUMAN;.;.	T|N	39;51;51;39|24;49;24;24;36;33;24	.|ENSP00000347469:T24N;ENSP00000306425:T49N;ENSP00000428917:T36N;ENSP00000379949:T33N	ENSP00000428274:P51T|ENSP00000306425:T49N	P|T	+|+	1|2	0|0	CHCHD7|CHCHD7	57291562|57291562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	1.087000|1.087000	0.30865|0.30865	1.381000|1.381000	0.46364|0.46364	-0.137000|-0.137000	0.14449|0.14449	CCA|ACC		0.398	CHCHD7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378218.1	NM_024300		5	201	1	0	0.000602214	1	0.000622803	5	201					A	57129008	C	A	57129008	3	1	485	1	0	0	0	0	1	0	0	0	3321	507	18	4	200	4	CHCHD7	8	57129008	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14299709	57129008	89235014	40	39377											
CA2	760	broad.mit.edu	37	chr8	86386583	86386583	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcactggaacaccaaatatGgggattttgggaaagctgtg	12	6	1	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:86386583G>C	ENST00000285379.5	+	4	612	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CACCAAATATGGGGATTTTGG	0.398																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(382-384)Ggg>Cgg		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						173	183	180					8																	86386583		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386583G>C	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.382G>C	8.37:g.86386583G>C	ENSP00000285379:p.Gly128Arg						p.G128R	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			4	612	+			128					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.382G>C	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376137	0.01214	.	.	ENSG00000104267	ENST00000285379	T	0.66099	-0.19	5.67	4.8	0.61643	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.401215	0.28730	N	0.014332	T	0.50684	0.1630	L	0.31526	0.94	0.09310	N	1	B	0.31413	0.322	B	0.38020	0.263	T	0.43196	-0.9406	10	0.29301	T	0.29	-2.9248	8.6863	0.34240	0.0757:0.0:0.7742:0.1501	.	128	P00918	CAH2_HUMAN	R	128	ENSP00000285379:G128R	ENSP00000285379:G128R	G	+	1	0	CA2	86573835	0.000000	0.05858	0.150000	0.22450	0.203000	0.24098	0.252000	0.18278	1.394000	0.46624	0.650000	0.86243	GGG		0.398	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		5	425	0	0	0	1	0	5	425					C	86386583	G	C	86386583	3	2	485	1	0	0	0	0	1	0	0	0	2516	1348	47	4	396	4	CA2	8	86386583	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	29257575	86386583	59977439	41	39378											
RBM12B	389677	broad.mit.edu	37	chr8	94748635	94748635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaacggatgactacagCcatgctgagctcaaaccaca	8	12	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:94748635C>A	ENST00000399300.2	-	3	217	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	2							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)			ATGACTACAGCCATGCTGAGC	0.433																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(4-6)Gct>Tct		RNA binding motif protein 12B							43	44	44					8																	94748635		1899	4054	5953	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748635C>A		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.4G>T	8.37:g.94748635C>A	ENSP00000382239:p.Ala2Ser					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	217	-	Breast(36;4.14e-07)		2					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.4G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173073	0.57584	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.24151	2.94;2.98;2.22;2.22;2.2;1.87	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000017	T	0.34832	0.0911	N	0.11560	0.145	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.34976	-0.9807	10	0.46703	T	0.11	-19.3197	19.681	0.95964	0.0:1.0:0.0:0.0	.	2	Q8IXT5	RB12B_HUMAN	S	2	ENSP00000382239:A2S;ENSP00000427729:A2S;ENSP00000430474:A2S;ENSP00000428269:A2S;ENSP00000429807:A2S;ENSP00000430466:A2S	ENSP00000382239:A2S	A	-	1	0	RBM12B	94817811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.763000	0.68818	2.744000	0.94065	0.655000	0.94253	GCT		0.433	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		8	202	1	0	0.000157383	1	0.000165595	8	202					A	94748635	C	A	94748635	3	1	485	1	0	0	0	0	1	0	0	0	13114	739	26	4	3005	4	RBM12B	8	94748635	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	8362052	94748635	51615387	42	39379											
RRM2B	50484	broad.mit.edu	37	chr8	103226348	103226348	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaggcttatttactaaGtattggaacatcaggcaagc	9	7	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:103226348G>C	ENST00000251810.3	-	7	966	c.723C>G	c.(721-723)taC>taG	p.Y241*	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	241					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	TATTTACTAAGTATTGGAACA	0.378								Modulation of nucleotide pools																														ENST00000251810.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(721-723)taC>taG	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)							107	99	102					8																	103226348		2203	4300	6503	SO:0001587	stop_gained	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103226348G>C	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.723C>G	8.37:g.103226348G>C	ENSP00000251810:p.Tyr241*					RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*	p.Y241*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		7	966	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		241					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Nonsense_Mutation	SNP	ENST00000251810.3	37	c.723C>G	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265790|5.265790	0.95399|0.95399	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000535248;ENST00000519317;ENST00000395912	.|.	.|.	.|.	5.48|5.48	4.57|4.57	0.56435|0.56435	.|.	.|0.055149	.|0.85682	.|D	.|0.000000	T|.	0.58250|.	0.2109|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.54370|.	-0.8304|.	4|.	.|0.28530	.|T	.|0.3	.|.	10.3085|10.3085	0.43695|0.43695	0.1814:0.0:0.8186:0.0|0.1814:0.0:0.8186:0.0	.|.	.|.	.|.	.|.	V|X	298|241;187;29;189	.|.	.|ENSP00000251810:Y241X	L|Y	-|-	1|3	0|2	RRM2B|RRM2B	103295524|103295524	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.978000|0.978000	0.69477|0.69477	3.769000|3.769000	0.55303|0.55303	1.365000|1.365000	0.46057|0.46057	0.591000|0.591000	0.81541|0.81541	CTT|TAC		0.378	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			32	193	0	0	0	1	0	32	193					C	103226348	G	C	103226348	4	2	485	1	0	0	0	0	0	1	0	0	13683	1024	36	4	344	4	RRM2B	8	103226348	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	8477713	103226348	43137674	43	39380											
CSMD3	114788	broad.mit.edu	37	chr8	113349859	113349859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaattaatgtgtatcctgGgaaacattcaaatgaaatgg	8	6	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:113349859G>A	ENST00000297405.5	-	43	6998	c.6754C>T	c.(6754-6756)Cca>Tca	p.P2252S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12. {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						GTGTATCCTGGGAAACATTCA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(6754-6756)Cca>Tca		CUB and Sushi multiple domains 3							106	107	107					8																	113349859		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349859G>A	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.6754C>T	8.37:g.113349859G>A	ENSP00000297405:p.Pro2252Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	p.P2252S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			43	6998	-			2252			Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6754C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825250	0.90955	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.074335	0.53938	D	0.000044	T	0.77883	0.4197	M	0.62266	1.93	0.80722	D	1	P;B;D	0.89917	0.846;0.022;1.0	P;B;D	0.85130	0.557;0.098;0.997	T	0.75297	-0.3367	10	0.41790	T	0.15	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	2148;2252;2212	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2212;2252;1522;2148;2182	ENSP00000345799:P2212S;ENSP00000297405:P2252S;ENSP00000341558:P1522S;ENSP00000412263:P2148S;ENSP00000343124:P2182S	ENSP00000297405:P2252S	P	-	1	0	CSMD3	113419035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.801000	0.85960	2.835000	0.97688	0.650000	0.86243	CCA		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	347	0	0	0	1	0	7	347					A	113349859	G	A	113349859	3	1	485	1	0	0	0	0	1	0	0	0	3946	1232	43	2	4485	2	CSMD3	8	113349859	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10123511	113349859	33014163	44	39381											
DENND3	22898	broad.mit.edu	37	chr8	142161887	142161887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcgtcatggcccccaCgtccttcctgatgggctgcc	11	15	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:142161887C>T	ENST00000262585.2	+	7	1063	c.785C>T	c.(784-786)aCg>aTg	p.T262M	DENND3_ENST00000519811.1_Missense_Mutation_p.T342M|DENND3_ENST00000424248.1_Missense_Mutation_p.T262M	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	262	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCCACGTCCTTCCTG	0.547																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1024-1026)aCg>aTg		DENN/MADD domain containing 3							139	119	126					8																	142161887		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142161887C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.785C>T	8.37:g.142161887C>T	ENSP00000262585:p.Thr262Met					DENND3_ENST00000424248.1_Missense_Mutation_p.T262M|DENND3_ENST00000262585.2_Missense_Mutation_p.T262M	p.T342M			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1095	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		262					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1025C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919590	0.92249	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.71	5.71	0.89125	DENN (3);	0.046064	0.85682	D	0.000000	T	0.32406	0.0828	L	0.45285	1.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00370	-1.1783	10	0.38643	T	0.18	-21.765	19.8344	0.96650	0.0:1.0:0.0:0.0	.	342;262	E9PF32;A2RUS2	.;DEND3_HUMAN	M	262;262;342;264	ENSP00000262585:T262M;ENSP00000410594:T262M;ENSP00000428714:T342M;ENSP00000429780:T264M	ENSP00000262585:T262M	T	+	2	0	DENND3	142231069	1.000000	0.71417	0.932000	0.37286	0.957000	0.61999	7.422000	0.80217	2.691000	0.91804	0.563000	0.77884	ACG		0.547	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		86	111	0	0	0	1	0	86	111					T	142161887	C	T	142161887	3	4	485	1	0	0	0	0	1	0	0	0	4432	536	19	1	807	1	DENND3	8	142161887	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	28812028	142161887	4202135	45	39382											
ACO1	48	broad.mit.edu	37	chr9	32420980	32420980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacggagcaactgctgccTttttcccagttgatgaagtt	10	9	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:32420980T>C	ENST00000309951.6	+	8	1063	c.925T>C	c.(925-927)Ttt>Ctt	p.F309L	ACO1_ENST00000379923.1_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	309					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(925-927)Ttt>Ctt		aconitase 1, soluble							203	190	194					9																	32420980		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32420980T>C	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.925T>C	9.37:g.32420980T>C	ENSP00000309477:p.Phe309Leu					ACO1_ENST00000309951.5_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	p.F309L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	9	1131	+			309					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.925T>C	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736271	0.89482	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.38077	1.16;1.16;1.16	5.84	5.84	0.93424	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.042704	0.85682	D	0.000000	T	0.55878	0.1948	M	0.61387	1.9	0.80722	D	1	D;B	0.65815	0.995;0.076	D;B	0.63957	0.92;0.101	T	0.58086	-0.7698	10	0.66056	D	0.02	-7.1161	15.2058	0.73177	0.0:0.0:0.0:1.0	.	345;309	Q59FI0;P21399	.;ACOC_HUMAN	L	345;309;309;309;210	ENSP00000309477:F309L;ENSP00000369255:F309L;ENSP00000438733:F210L	ENSP00000309477:F309L	F	+	1	0	ACO1	32410980	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.243000	0.73865	0.482000	0.46254	TTT		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		5	748	0	0	0	1	0	5	748					C	32420980	T	C	32420980	3	2	485	1	0	0	0	0	1	0	0	0	146	1609	56	3	951	3	ACO1	9	32420980	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		32420980	108792451	46	39383											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606159	71606159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgacaatgcttctgtgCttgacgtctatttagtaagt	10	6	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:71606159C>T	ENST00000265382.3	+	15	1911	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	536					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGCTTCTGTGCTTGACGTCTA	0.433																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1606-1608)Ctt>Ttt		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							148	127	135					9																	71606159		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606159C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1606C>T	9.37:g.71606159C>T	ENSP00000265382:p.Leu536Phe					PIP5K1B_ENST00000541509.1_Intron	p.536_536insF	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	15	1911	+			0					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1606C>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052196	0.19827	.	.	ENSG00000107242	ENST00000377290;ENST00000265382	T	0.32515	1.45	6.17	3.02	0.34903	.	.	.	.	.	T	0.15565	0.0375	N	0.05383	-0.06	0.30663	N	0.754162	B	0.11235	0.004	B	0.04013	0.001	T	0.10965	-1.0607	9	0.44086	T	0.13	.	7.9715	0.30130	0.0:0.6891:0.0:0.3108	.	536	O14986	PI51B_HUMAN	F	536	ENSP00000265382:L536F	ENSP00000265382:L536F	L	+	1	0	PIP5K1B	70795979	1.000000	0.71417	0.953000	0.39169	0.326000	0.28443	1.244000	0.32778	0.938000	0.37419	0.655000	0.94253	CTT		0.433	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		25	160	0	0	0	1	0	25	160					T	71606159	C	T	71606159	3	4	485	1	0	0	0	0	1	0	0	0	11940	797	28	2	1652	2	PIP5K1B	9	71606159	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	39185179	71606159	69607272	47	39384											
KLF9	687	broad.mit.edu	37	chr9	73002695	73002695	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttccacgggcagcacctcaCaaagcgttggccagcgcctt	10	16	1	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:73002695C>G	ENST00000377126.2	-	2	1992	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	244					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCACCTCACAAAGCGTTGG	0.587																																						ENST00000377126.2																			0				endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(730-732)ttG>ttC		Kruppel-like factor 9							47	48	48					9																	73002695		2203	4300	6503	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73002695C>G	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	1123	protein-coding gene	gene with protein product		602902	"basic transcription element binding protein 1"	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.732G>C	9.37:g.73002695C>G	ENSP00000366330:p.Leu244Phe						p.L244F	NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN			2	1992	-			244					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.732G>C	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293151	0.40594	.	.	ENSG00000119138	ENST00000377126	T	0.05580	3.42	5.47	4.51	0.55191	.	0.451330	0.18843	N	0.129606	T	0.05364	0.0142	N	0.22421	0.69	0.27482	N	0.952543	B	0.06786	0.001	B	0.04013	0.001	T	0.21042	-1.0257	10	0.35671	T	0.21	.	12.3601	0.55199	0.2792:0.7208:0.0:0.0	.	244	Q13886	KLF9_HUMAN	F	244	ENSP00000366330:L244F	ENSP00000366330:L244F	L	-	3	2	KLF9	72192515	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.358000	0.34102	2.545000	0.85829	0.655000	0.94253	TTG		0.587	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206		22	126	0	0	0	1	0	22	126					G	73002695	C	G	73002695	3	3	485	1	0	0	0	0	1	0	0	0	8353	477	17	4	6	4	KLF9	9	73002695	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	1396536	73002695	68210736	48	39385											
RMI1	80010	broad.mit.edu	37	chr9	86617400	86617400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctgttctaatggccaGcaaaccaaaggaagttacaa	8	8	2	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:86617400G>A	ENST00000325875.3	+	3	1831	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	500					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTAATGGCCAGCAAACCAAAG	0.363																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1498-1500)aGc>aAc		RecQ mediated genome instability 1							122	125	124					9																	86617400		2203	4300	6503	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617400G>A	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1499G>A	9.37:g.86617400G>A	ENSP00000317039:p.Ser500Asn						p.S500N	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1831	+			500					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1499G>A	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958680	0.18507	.	.	ENSG00000178966	ENST00000325875	T	0.32988	1.43	5.29	1.37	0.22104	.	0.579815	0.19807	N	0.105603	T	0.16938	0.0407	N	0.19112	0.55	0.22811	N	0.998705	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	9	.	.	.	-0.6371	9.7214	0.40306	0.3665:0.0:0.6335:0.0	.	500	Q9H9A7	RMI1_HUMAN	N	500	ENSP00000317039:S500N	.	S	+	2	0	RMI1	85807220	0.943000	0.32029	1.000000	0.80357	0.988000	0.76386	1.300000	0.33436	0.311000	0.23014	0.563000	0.77884	AGC		0.363	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		5	506	0	0	0	1	0	5	506					A	86617400	G	A	86617400	3	1	485	1	0	0	0	0	1	0	0	0	13395	971	34	2	1501	2	RMI1	9	86617400	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	13614705	86617400	54596031	49	39386											
OR1N1	138883	broad.mit.edu	37	chr9	125289088	125289088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacacagaaggacaaccgaGccatgaggaacgtgtgagtc	12	10	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:125289088G>A	ENST00000304880.2	-	1	484	c.485C>T	c.(484-486)gCt>gTt	p.A162V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	162						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)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGACAACCGAGCCATGAGGAA	0.512																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(484-486)gCt>gTt		olfactory receptor, family 1, subfamily N, member 1							99	83	88					9																	125289088		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289088G>A	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.485C>T	9.37:g.125289088G>A	ENSP00000306974:p.Ala162Val						p.A162V	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	484	-			162					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.485C>T	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198290	0.38806	.	.	ENSG00000171505	ENST00000304880	T	0.00069	8.77	3.75	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35466	U	0.003186	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	P	0.45044	0.849	B	0.40982	0.345	T	0.45175	-0.9279	10	0.35671	T	0.21	.	5.7874	0.18340	0.1037:0.0:0.7027:0.1935	.	162	Q8NGS0	OR1N1_HUMAN	V	162	ENSP00000306974:A162V	ENSP00000306974:A162V	A	-	2	0	OR1N1	124328909	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.119000	0.15626	1.979000	0.57680	0.545000	0.68477	GCT		0.512	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			16	96	0	0	0	1	0	16	96					A	125289088	G	A	125289088	3	1	485	1	0	0	0	0	1	0	0	0	10969	971	34	2	454	2	OR1N1	9	125289088	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	38671688	125289088	15924343	50	39387											
OR51I1	390063	broad.mit.edu	37	chr11	5462403	5462403	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggccagcagtatgccTgactccatgaaggagaaagt	11	10	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:5462403T>A	ENST00000380211.1	-	1	341	c.342A>T	c.(340-342)tcA>tcT	p.S114S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	114					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)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTATGCCTGACTCCATGA	0.458																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(340-342)tcA>tcT		olfactory receptor, family 51, subfamily I, member 1							135	113	120					11																	5462403		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462403T>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.342A>T	11.37:g.5462403T>A						HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	p.S114S	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	341	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	114					B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.342A>T	CCDS31382.1																																																																																				0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		4	122	0	0	0	1	0	4	122					A	5462403	T	A	5462403	2	1	485	1	0	0	0	0	0	0	0	1	11100	1567	55	5		5	OR51I1	11	5462403	Silent	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		5462403	129544113	51	39388											
SMPD1	6609	broad.mit.edu	37	chr11	6412705	6412705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgtgccaatccattgTccacctctttgaggatgaca	9	12	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:6412705T>C	ENST00000342245.4	+	2	578	c.410T>C	c.(409-411)gTc>gCc	p.V137A	SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A|SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	135	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.		L -> P (in NPDB). {ECO:0000269|PubMed:12369017}.		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)	CAATCCATTGTCCACCTCTTT	0.602																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(409-411)gTc>gCc		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						79	64	69					11																	6412705		2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412705T>C	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.410T>C	11.37:g.6412705T>C	ENSP00000340409:p.Val137Ala					SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A|SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A	p.V137A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	578	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	135		L -> P (in NPDB).	Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.410T>C	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	T	6.415	0.444654	0.12164	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.11	5.11	0.69529	Saposin-like (2);Saposin B (2);	0.272259	0.30930	N	0.008593	D	0.95551	0.8554	L	0.50333	1.59	0.21473	N	0.999673	B;B;B	0.15719	0.0;0.014;0.001	B;B;B	0.19666	0.004;0.026;0.005	D	0.88189	0.2876	10	0.28530	T	0.3	-4.702	12.8539	0.57873	0.0:0.0:0.0:1.0	.	136;137;135	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	A	137;137;137;136	ENSP00000299397:V137A;ENSP00000349203:V137A;ENSP00000340409:V137A;ENSP00000435350:V136A	ENSP00000299397:V137A	V	+	2	0	SMPD1	6369281	0.928000	0.31464	0.735000	0.30896	0.123000	0.20343	4.212000	0.58514	1.929000	0.55896	0.528000	0.53228	GTC		0.602	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		11	37	0	0	0	1	0	11	37					C	6412705	T	C	6412705	3	2	485	1	0	0	0	0	1	0	0	0	14804	1667	58	3	416	3	SMPD1	11	6412705	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	950302	6412705	128593811	52	39389											
MRGPRX2	117194	broad.mit.edu	37	chr11	19076984	19076984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactgcttctcgacatctcCggggtgccctgacggaagca	12	13	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:19076984C>T	ENST00000329773.2	-	2	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	322					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCGACATCTCCGGGGTGCCCT	0.557																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(964-966)ccG>ccA		MAS-related GPR, member X2							62	62	62					11																	19076984		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19076984C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.966G>A	11.37:g.19076984C>T							p.P322P	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1053	-			322					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.966G>A	CCDS7847.1																																																																																				0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		7	92	0	0	0	1	0	7	92					T	19076984	C	T	19076984	2	4	485	1	0	0	0	0	0	0	0	1	9767	639	23	1		1	MRGPRX2	11	19076984	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12664279	19076984	115929532	53	39390											
AHNAK	79026	broad.mit.edu	37	chr11	62297887	62297887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctcccttcaattttggCcccttaagattcaggtccac	5	14	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					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)				TCAATTTTGGCCCCTTAAGAT	0.493																																						ENST00000378024.4																			0				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						c.(4000-4002)ggG>ggA		AHNAK nucleoprotein							192	193	192					11																	62297887		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297887C>T	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.4002G>A	11.37:g.62297887C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G1334G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4276	-		Melanoma(852;0.155)	1334					A1A586	Silent	SNP	ENST00000378024.4	37	c.4002G>A	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	535	0	0	0	1	0	5	535					T	62297887	C	T	62297887	2	4	485	1	0	0	0	0	0	0	0	1	414	726	26	2		2	AHNAK	11	62297887	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	43220903	62297887	72708629	54	39391											
PLCB3	5331	broad.mit.edu	37	chr11	64030204	64030204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccctgttgatacgcggcGcaagtaccgcacccggacct	10	17	0	1	rs556404139	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:64030204G>A	ENST00000540288.1	+	19	2382	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	760	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GATACGCGGCGCAAGTACCGC	0.637													G|||	4	0.000798722	0.0	0.0	5008	,	,		18386	0.004		0.0	False		,,,				2504	0.0					ENST00000540288.1																			0				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						c.(2278-2280)cGc>cAc		phospholipase C, beta 3 (phosphatidylinositol-specific)							152	133	139					11																	64030204		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64030204G>A	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.2279G>A	11.37:g.64030204G>A	ENSP00000443631:p.Arg760His					PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H	p.R760H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			19	2382	+			760			C2.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2279G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951247	0.92660	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.69175	-0.38;-0.38;-0.38	5.21	4.29	0.51040	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	T	0.81578	0.4852	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82428	-0.0462	10	0.42905	T	0.14	.	14.704	0.69174	0.0:0.1465:0.8535:0.0	.	693;760	G5E960;Q01970	.;PLCB3_HUMAN	H	760;760;693	ENSP00000279230:R760H;ENSP00000443631:R760H;ENSP00000324660:R693H	ENSP00000279230:R760H	R	+	2	0	PLCB3	63786780	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.946000	0.87746	1.186000	0.42985	0.591000	0.81541	CGC		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			6	173	0	0	0	1	0	6	173					A	64030204	G	A	64030204	3	1	485	1	0	0	0	0	1	0	0	0	12029	1087	38	1	2353	1	PLCB3	11	64030204	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	1732317	64030204	70976312	55	39392											
PDE2A	5138	broad.mit.edu	37	chr11	72300242	72300242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtccttcagctggaTggacttcttgtcttccacca	11	11	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:72300242T>C	ENST00000334456.5	-	12	1161	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	306	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TTCAGCTGGATGGACTTCTTG	0.602																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(916-918)Atc>Gtc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						88	68	74					11																	72300242		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72300242T>C	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.916A>G	11.37:g.72300242T>C	ENSP00000334910:p.Ile306Val					PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	p.I306V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		12	1161	-			306			GAF 1.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.916A>G	CCDS8216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.33|13.33	2.204826|2.204826	0.38905|0.38905	.|.	.|.	ENSG00000186642|ENSG00000186642	ENST00000538299|ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	.|T;T;T;T;T;T	.|0.64618	.|-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.46|5.46	5.46|5.46	0.80206|0.80206	.|GAF (2);	.|0.462530	.|0.19720	.|N	.|0.107610	T|T	0.52240|0.52240	0.1722|0.1722	L|L	0.28608|0.28608	0.87|0.87	0.43172|0.43172	D|D	0.994976|0.994976	.|B;B;B;B;B	.|0.22414	.|0.064;0.03;0.069;0.056;0.063	.|B;B;B;B;B	.|0.35607	.|0.206;0.046;0.031;0.03;0.07	T|T	0.42999|0.42999	-0.9418|-0.9418	5|10	.|0.07813	.|T	.|0.8	.|.	12.9074|12.9074	0.58160|0.58160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|191;306;297;299;306	.|E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.|.;PDE2A_HUMAN;.;.;.	R|V	67|306;297;375;299;191;297;130	.|ENSP00000334910:I306V;ENSP00000411657:I297V;ENSP00000442256:I299V;ENSP00000410310:I191V;ENSP00000446399:I297V;ENSP00000439077:I130V	.|ENSP00000334910:I306V	H|I	-|-	2|1	0|0	PDE2A|PDE2A	71977890|71977890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.706000|4.706000	0.61845|0.61845	2.071000|2.071000	0.62044|0.62044	0.402000|0.402000	0.26972|0.26972	CAT|ATC		0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		25	24	0	0	0	1	0	25	24					C	72300242	T	C	72300242	3	2	485	1	0	0	0	0	1	0	0	0	11636	1464	51	3	1989	3	PDE2A	11	72300242	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	8270038	72300242	62706274	56	39393											
ZW10	9183	broad.mit.edu	37	chr11	113607355	113607355	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacataccgatccccaatttCttgcaagctggcttgtagca	7	12	1	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:113607355C>T	ENST00000200135.3	-	15	2350	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	736					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCCCCAATTTCTTGCAAGCTG	0.413																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(2206-2208)Gaa>Aaa		zw10 kinetochore protein							279	252	262					11																	113607355		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113607355C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.2206G>A	11.37:g.113607355C>T	ENSP00000200135:p.Glu736Lys						p.E736K	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	15	2350	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	736					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.2206G>A	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142754	0.94560	.	.	ENSG00000086827	ENST00000200135	T	0.52983	0.64	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.73598	2.24	0.80722	D	1	P	0.43314	0.803	P	0.48952	0.596	T	0.62416	-0.6859	10	0.56958	D	0.05	-19.1874	20.8599	0.99761	0.0:1.0:0.0:0.0	.	736	O43264	ZW10_HUMAN	K	736	ENSP00000200135:E736K	ENSP00000200135:E736K	E	-	1	0	ZW10	113112565	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.484000	0.81180	2.937000	0.99478	0.650000	0.86243	GAA		0.413	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		83	288	0	0	0	1	0	83	288					T	113607355	C	T	113607355	3	4	485	1	0	0	0	0	1	0	0	0	18244	922	32	2	141	2	ZW10	11	113607355	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	41307113	113607355	21399161	57	39394											
FAM55D	54827	broad.mit.edu	37	chr11	114441697	114441697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataatatattaatctgatttCcgactacatgttgaggtggg	9	5	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:114441697C>T	ENST00000375478.3	-	6	1778	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	NXPE4_ENST00000424261.2_Missense_Mutation_p.G249E	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	533						extracellular vesicular exosome (GO:0070062)											AATCTGATTTCCGACTACATG	0.313																																						ENST00000375478.3																			0											c.(1597-1599)gGa>gAa		neurexophilin and PC-esterase domain family, member 4							74	64	67					11																	114441697		1810	4077	5887	SO:0001583	missense	54827							g.chr11:114441697C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 33", "family with sequence similarity 55, member D"	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1598G>A	11.37:g.114441697C>T	ENSP00000364627:p.Gly533Glu					NXPE4_ENST00000424261.2_Missense_Mutation_p.G249E	p.G533E	NM_001077639.1	NP_001071107.1					6	1778	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1598G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	0.400	-0.919023	0.02396	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.20332	2.08;2.08	5.61	1.64	0.23874	.	0.553031	0.18226	N	0.147711	T	0.08758	0.0217	N	0.11698	0.16	0.09310	N	0.999992	B	0.14805	0.011	B	0.17979	0.02	T	0.40553	-0.9557	10	0.02654	T	1	.	8.1622	0.31204	0.0:0.6011:0.0:0.3989	.	533	Q6UWF7	FA55D_HUMAN	E	249;533	ENSP00000401503:G249E;ENSP00000364627:G533E	ENSP00000364627:G533E	G	-	2	0	FAM55D	113946907	0.000000	0.05858	0.086000	0.20670	0.020000	0.10135	-0.669000	0.05262	0.114000	0.18032	0.655000	0.94253	GGA		0.313	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		33	132	0	0	0	1	0	33	132					T	114441697	C	T	114441697	3	4	485	1	0	0	0	0	1	0	0	0	5587	855	30	2	40	2	FAM55D	11	114441697	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	834342	114441697	20564819	58	39395											
HSPA8	3312	broad.mit.edu	37	chr11	122928983	122928983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttatcaagccagttgaTaatttcattacacttgtcca	4	9	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:122928983T>C	ENST00000532636.1	-	8	1851	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V	HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.I578V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	578					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)		AGCCAGTTGATAATTTCATTA	0.393																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1732-1734)Atc>Gtc		heat shock 70kDa protein 8							91	96	94					11																	122928983		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928983T>C	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.1732A>G	11.37:g.122928983T>C	ENSP00000437125:p.Ile578Val					HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I578V	p.I578V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	2008	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	578					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1732A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334910	0.60853	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	4.79	3.63	0.41609	.	0.120381	0.51477	D	0.000090	T	0.14399	0.0348	L	0.47716	1.5	0.54753	D	0.999988	B;B	0.15473	0.013;0.001	B;B	0.24269	0.052;0.052	T	0.03403	-1.1040	10	0.48119	T	0.1	-19.4615	11.782	0.52020	0.0:0.0:0.1474:0.8526	.	578;578	Q53GZ6;P11142	.;HSP7C_HUMAN	V	578;432;578;578;342;559;169;130	ENSP00000437125:I578V;ENSP00000437189:I432V;ENSP00000432083:I578V;ENSP00000227378:I578V;ENSP00000433316:I342V;ENSP00000433584:I559V;ENSP00000435908:I169V;ENSP00000435019:I130V	ENSP00000227378:I578V	I	-	1	0	HSPA8	122434193	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.045000	0.64220	0.760000	0.33108	0.459000	0.35465	ATC		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			5	226	0	0	0	1	0	5	226					C	122928983	T	C	122928983	3	2	485	1	0	0	0	0	1	0	0	0	7416	1406	49	3	216	3	HSPA8	11	122928983	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	8487286	122928983	12077533	59	39396											
OR8B3	390271	broad.mit.edu	37	chr11	124266802	124266802	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccaatcccattatgTaagcagcaaaagtgagcata	7	11	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:124266802T>A	ENST00000354597.3	-	1	462	c.446A>T	c.(445-447)tAc>tTc	p.Y149F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	149						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(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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)		TCCCATTATGTAAGCAGCAAA	0.473																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(445-447)tAc>tTc		olfactory receptor, family 8, subfamily B, member 3							29	25	26					11																	124266802		2200	4279	6479	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266802T>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.446A>T	11.37:g.124266802T>A	ENSP00000346611:p.Tyr149Phe						p.Y149F	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	462	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	149					Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.446A>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	7.542	0.660826	0.14645	.	.	ENSG00000196661	ENST00000354597	T	0.37411	1.2	3.46	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	T	0.36138	0.0956	L	0.60957	1.885	0.30303	N	0.789274	B	0.30563	0.285	B	0.40477	0.33	T	0.38308	-0.9667	10	0.52906	T	0.07	.	4.8668	0.13613	0.0:0.4092:0.0:0.5908	.	149	Q8NGG8	OR8B3_HUMAN	F	149	ENSP00000346611:Y149F	ENSP00000346611:Y149F	Y	-	2	0	OR8B3	123772012	0.002000	0.14202	0.029000	0.17559	0.005000	0.04900	-0.267000	0.08619	0.706000	0.31912	0.443000	0.29094	TAC		0.473	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		9	46	0	0	0	1	0	9	46					A	124266802	T	A	124266802	3	1	485	1	0	0	0	0	1	0	0	0	11228	1638	57	5	497	5	OR8B3	11	124266802	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	1337819	124266802	10739714	60	39397											
LRP6	4040	broad.mit.edu	37	chr12	12279789	12279789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttccagacacaaaaatgGtgacaattacgccaataaca	6	10	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:12279789G>A	ENST00000261349.4	-	20	4224	c.4148C>T	c.(4147-4149)aCc>aTc	p.T1383I	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1383					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACAAAAATGGTGACAATTAC	0.408																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4147-4149)aCc>aTc		low density lipoprotein receptor-related protein 6							128	115	120					12																	12279789		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12279789G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4148C>T	12.37:g.12279789G>A	ENSP00000261349:p.Thr1383Ile					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I	p.T1383I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			20	4224	-		Prostate(47;0.0865)	1383					Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.4148C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933824	0.73442	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	T;T	0.40476	1.03;1.03	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	T	0.37972	0.1023	L	0.34521	1.04	0.80722	D	1	B;B	0.33238	0.403;0.026	B;B	0.36418	0.224;0.033	T	0.07809	-1.0753	10	0.21540	T	0.41	.	19.8402	0.96679	0.0:0.0:1.0:0.0	.	1338;1383	F5H7J9;O75581	.;LRP6_HUMAN	I	1383;1338	ENSP00000261349:T1383I;ENSP00000442472:T1338I	ENSP00000261349:T1383I	T	-	2	0	LRP6	12171056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.751000	0.94390	0.563000	0.77884	ACC		0.408	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			35	158	0	0	0	1	0	35	158					A	12279789	G	A	12279789	3	1	485	1	0	0	0	0	1	0	0	0	8962	1261	44	2	709	2	LRP6	12	12279789	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		12279789	121572106	61	39398											
CAPRIN2	65981	broad.mit.edu	37	chr12	30882096	30882096	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttaccagaagcctccCaggacttaaaggactcctgt	10	12	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:30882096C>A	ENST00000395805.2	-	8	1815	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000538387.1_5'UTR	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)					AGAAGCCTCCCAGGACTTAAA	0.468																																						ENST00000251071.5																			0				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						c.(1267-1269)tGg>tTg		caprin family member 2							106	102	103					12																	30882096		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30882096C>A	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.1268G>T	12.37:g.30882096C>A	ENSP00000379150:p.Trp423Leu					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W423L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L	p.W423L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2018	-	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)		423						Missense_Mutation	SNP	ENST00000395805.2	37	c.1268G>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170764	0.57584	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.75704	2.38;-0.7;2.79;-0.63;-0.96;2.82;2.41	4.94	4.94	0.65067	.	0.156567	0.30142	N	0.010316	T	0.74764	0.3759	N	0.19112	0.55	0.38103	D	0.937333	B;D;B;B;B;B;B	0.89917	0.181;1.0;0.114;0.181;0.06;0.012;0.016	B;D;B;B;B;B;B	0.85130	0.122;0.997;0.057;0.122;0.018;0.016;0.007	T	0.73139	-0.4077	10	0.23891	T	0.37	-3.5658	12.6719	0.56872	0.1645:0.8355:0.0:0.0	.	423;149;423;423;423;423;423	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	L	169;423;423;423;90;423;149;342	ENSP00000415407:W169L;ENSP00000298892:W423L;ENSP00000379150:W423L;ENSP00000251071:W423L;ENSP00000309785:W90L;ENSP00000391479:W423L;ENSP00000438010:W342L	ENSP00000251071:W423L	W	-	2	0	CAPRIN2	30773363	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.859000	0.48364	2.443000	0.82685	0.655000	0.94253	TGG		0.468	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		58	181	1	0	1.27334e-21	1	1.43994e-21	58	181					A	30882096	C	A	30882096	3	1	485	1	0	0	0	0	1	0	0	0	2636	595	21	4	2159	4	CAPRIN2	12	30882096	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	18602307	30882096	102969799	62	39399											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854058	42854058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagattcagggcattgtcGgagcgggactttctacttct	11	9	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:42854058G>A	ENST00000455697.1	-	8	2334	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	PRICKLE1_ENST00000552240.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S|PRICKLE1_ENST00000445766.2_Silent_p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	683					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGCATTGTCGGAGCGGGACT	0.483																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2047-2049)tcC>tcT		prickle homolog 1 (Drosophila)							58	60	59					12																	42854058		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854058G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2049C>T	12.37:g.42854058G>A						PRICKLE1_ENST00000548696.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.S683S|PRICKLE1_ENST00000445766.2_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S	p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2334	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		683					Q14C83|Q71QF8|Q96N00	Silent	SNP	ENST00000455697.1	37	c.2049C>T	CCDS8742.1																																																																																				0.483	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			4	175	0	0	0	1	0	4	175					A	42854058	G	A	42854058	2	1	485	1	0	0	0	0	0	0	0	1	12486	1103	39	1		1	PRICKLE1	12	42854058	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	11971962	42854058	90997837	63	39400											
KIAA0748	9840	broad.mit.edu	37	chr12	55367280	55367280	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccgcaatcctgcagccagtCttcaattttattgattggat	7	11	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:55367280C>A	ENST00000449076.1	-	3	319	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.D63Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	63					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)											TGCAGCCAGTCTTCAATTTTA	0.458																																						ENST00000449076.1																			0											c.(187-189)Gac>Tac		thymocyte expressed, positive selection associated 1							100	99	99					12																	55367280		1904	4135	6039	SO:0001583	missense	9840							g.chr12:55367280C>A	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.187G>T	12.37:g.55367280C>A	ENSP00000400892:p.Asp63Tyr					TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.D63Y|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR	p.D63Y	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN			3	319	-			63					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.187G>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445893	0.43429	.	.	ENSG00000135426	ENST00000449076;ENST00000316577;ENST00000524668	T;T	0.47528	0.84;0.84	5.34	2.3	0.28687	.	.	.	.	.	T	0.37019	0.0988	L	0.29908	0.895	0.28768	N	0.900527	P	0.48016	0.904	P	0.46253	0.509	T	0.14587	-1.0467	9	0.29301	T	0.29	.	7.1901	0.25821	0.0:0.5805:0.3293:0.0902	.	63	A2RU30	K0748_HUMAN	Y	63	ENSP00000400892:D63Y;ENSP00000312679:D63Y	ENSP00000312679:D63Y	D	-	1	0	KIAA0748	53653547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.839000	0.27586	0.727000	0.32360	0.655000	0.94253	GAC		0.458	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		4	142	1	0	0.150653	1	0.151909	4	142					A	55367280	C	A	55367280	3	1	485	1	0	0	0	0	1	0	0	0	8190	913	32	4	1410	4	KIAA0748	12	55367280	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12513222	55367280	78484615	64	39401											
LRP1	4035	broad.mit.edu	37	chr12	57575037	57575037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctgcatgtgcacagcCggctatagcctccggagtgg	13	14	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:57575037C>T	ENST00000243077.3	+	34	6091	c.5625C>T	c.(5623-5625)gcC>gcT	p.A1875A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1875	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGCACAGCCGGCTATAGCC	0.642																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5623-5625)gcC>gcT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						75	69	71					12																	57575037		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57575037C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5625C>T	12.37:g.57575037C>T							p.A1875A	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	34	6091	+			1875			EGF-like 8.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.5625C>T	CCDS8932.1																																																																																				0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		47	88	0	0	0	1	0	47	88					T	57575037	C	T	57575037	2	4	485	1	0	0	0	0	0	0	0	1	8951	639	23	1		1	LRP1	12	57575037	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	2207757	57575037	76276858	65	39402											
CCDC64	92558	broad.mit.edu	37	chr12	120509568	120509568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcagagatcgagcagaGcatggaggctgaggagctgg	17	8	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:120509568G>A	ENST00000397558.2	+	5	1052	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N|CCDC64_ENST00000257583.4_5'UTR	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	351					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAGCAGAGCATGGAGGCT	0.612																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1051-1053)aGc>aAc		coiled-coil domain containing 64							26	29	28					12																	120509568		2175	4275	6450	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120509568G>A	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1052G>A	12.37:g.120509568G>A	ENSP00000380690:p.Ser351Asn					CCDC64_ENST00000257583.4_5'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N	p.S351N	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			5	1052	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		351					A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.1052G>A	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696454	0.68386	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000446727;ENST00000548673	T;T;T	0.33865	1.39;1.39;3.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.64567	1.98	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.72982	0.969;0.979	T	0.59899	-0.7367	10	0.62326	D	0.03	-7.3221	19.5632	0.95380	0.0:0.0:1.0:0.0	.	95;351	B4DNE7;Q6ZP65	.;BICR1_HUMAN	N	332;351;95;21	ENSP00000380690:S351N;ENSP00000399658:S95N;ENSP00000447477:S21N	ENSP00000349605:S332N	S	+	2	0	CCDC64	118993951	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.668000	0.91158	2.710000	0.92621	0.655000	0.94253	AGC		0.612	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		21	16	0	0	0	1	0	21	16					A	120509568	G	A	120509568	3	1	485	1	0	0	0	0	1	0	0	0	2835	971	34	2	1070	2	CCDC64	12	120509568	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	62934531	120509568	13342327	66	39403											
HS6ST3	266722	broad.mit.edu	37	chr13	97485304	97485304	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctaccaccacaccaAgcagctagagcaccagaggg	11	15	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:97485304A>G	ENST00000376705.2	+	2	1292	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	423					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCACACCAAGCAGCTAGAG	0.592																																						ENST00000376705.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(1267-1269)aAg>aGg		heparan sulfate 6-O-sulfotransferase 3							79	80	80					13																	97485304		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485304A>G	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1268A>G	13.37:g.97485304A>G	ENSP00000365895:p.Lys423Arg						p.K423R	NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN			2	1292	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		423					Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1268A>G	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	A	4.933	0.173422	0.09391	.	.	ENSG00000185352	ENST00000376705	D	0.82255	-1.59	5.89	3.5	0.40072	.	0.114703	0.56097	D	0.000034	T	0.50667	0.1629	N	0.01048	-1.04	0.38315	D	0.943354	B	0.12013	0.005	B	0.08055	0.003	T	0.54248	-0.8322	10	0.02654	T	1	-26.6164	8.1227	0.30980	0.7858:0.0:0.2142:0.0	.	423	Q8IZP7	H6ST3_HUMAN	R	423	ENSP00000365895:K423R	ENSP00000365895:K423R	K	+	2	0	HS6ST3	96283305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.176000	0.65026	1.052000	0.40392	0.459000	0.35465	AAG		0.592	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		83	111	0	0	0	1	0	83	111					G	97485304	A	G	97485304	3	3	485	1	0	0	0	0	1	0	0	0	7372	72	3	3	1274	3	HS6ST3	13	97485304	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08		97485304	17684574	67	39404											
DOCK9	23348	broad.mit.edu	37	chr13	99532924	99532924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggctcagccttatacgcGtactttgaagaaaagagaaa	9	7	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:99532924G>A	ENST00000376460.1	-	26	2828	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	917					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)					CCTTATACGCGTACTTTGAAG	0.463																																						ENST00000376460.1																			0				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						c.(2746-2748)taC>taT		dedicator of cytokinesis 9							100	93	95					13																	99532924		1962	4156	6118	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99532924G>A	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.2748C>T	13.37:g.99532924G>A						DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			26	2828	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		917					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2748C>T	CCDS45062.1																																																																																				0.463	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		21	33	0	0	0	1	0	21	33					A	99532924	G	A	99532924	2	1	485	1	0	0	0	0	0	0	0	1	4694	1140	40	1		1	DOCK9	13	99532924	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2047620	99532924	15636954	68	39405											
C14orf37	145407	broad.mit.edu	37	chr14	58605952	58605952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcggactgccctttttccGcatgaacatgtgctatctcc	7	13	1	1	rs199836120		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr14:58605952G>A	ENST00000267485.7	-	2	319	c.125C>T	c.(124-126)gCg>gTg	p.A42V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	42						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCCTTTTTCCGCATGAACATG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20214	0.001		0.0	False		,,,				2504	0.0					ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(124-126)gCg>gTg		chromosome 14 open reading frame 37							239	238	238					14																	58605952		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605952G>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.125C>T	14.37:g.58605952G>A	ENSP00000267485:p.Ala42Val					C14orf37_ENST00000334342.5_5'UTR	p.A42V	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	319	-			42					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.125C>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646575	0.47258	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.39406	1.08	4.33	-2.45	0.06481	.	0.819564	0.10767	N	0.636456	T	0.19604	0.0471	L	0.38531	1.155	0.19775	N	0.999952	B;P;B;B	0.45902	0.35;0.868;0.35;0.35	B;B;B;B	0.23852	0.029;0.049;0.029;0.029	T	0.12372	-1.0550	10	0.54805	T	0.06	-0.1835	3.9844	0.09509	0.2365:0.0:0.3674:0.3961	.	80;42;42;42	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	V	42;80	ENSP00000267485:A42V	ENSP00000267485:A42V	A	-	2	0	C14orf37	57675705	0.000000	0.05858	0.019000	0.16419	0.733000	0.41908	-0.117000	0.10708	-0.655000	0.05387	0.655000	0.94253	GCG		0.473	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		5	401	0	0	0	1	0	5	401					A	58605952	G	A	58605952	3	1	485	1	0	0	0	0	1	0	0	0	1771	1087	38	1	2227	1	C14orf37	14	58605952	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		58605952	48743588	69	39406											
KIAA1024	23251	broad.mit.edu	37	chr15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaacagtgaaagcctgCgggtcaaggccttaaaaaaa	12	8	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral component of membrane (GO:0016021)		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542																																						ENST00000305428.3																			1	Substitution - Missense(1)	p.R695W(1)	kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2083-2085)Cgg>Tgg		KIAA1024							140	137	138					15																	79750572		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750572C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2083C>T	15.37:g.79750572C>T	ENSP00000307461:p.Arg695Trp						p.R695W	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2158	+			695					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2083C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528591	0.44969	.	.	ENSG00000169330	ENST00000305428	T	0.36878	1.23	5.68	4.73	0.59995	.	0.249259	0.41938	D	0.000791	T	0.42337	0.1198	M	0.67953	2.075	0.47905	D	0.999542	D	0.65815	0.995	P	0.45474	0.482	T	0.40794	-0.9544	9	.	.	.	.	16.028	0.80555	0.135:0.865:0.0:0.0	.	695	Q9UPX6	K1024_HUMAN	W	695	ENSP00000307461:R695W	.	R	+	1	2	KIAA1024	77537627	1.000000	0.71417	0.077000	0.20336	0.406000	0.30931	1.426000	0.34870	2.681000	0.91329	0.655000	0.94253	CGG		0.542	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		5	286	0	0	0	1	0	5	286					T	79750572	C	T	79750572	3	4	485	1	0	0	0	0	1	0	0	0	8205	759	27	1	2085	1	KIAA1024	15	79750572	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		79750572	22780820	70	39407											
SV2B	9899	broad.mit.edu	37	chr15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccagaatggacagccttCggggccagacagacctgatg	12	13	0	4	rs201612018		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(223-225)Cgg>Tgg		synaptic vesicle glycoprotein 2B							81	73	76					15																	91769716		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769716C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.223C>T	15.37:g.91769716C>T	ENSP00000377779:p.Arg75Trp					SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W|SV2B_ENST00000545111.2_Intron	p.R75W	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	693	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		75					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.223C>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660853	0.29515	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.34275	1.37;1.37	5.17	3.03	0.35002	.	0.494275	0.21813	N	0.068737	T	0.26666	0.0652	L	0.40543	1.245	0.09310	N	0.999998	B	0.28636	0.218	B	0.20955	0.032	T	0.23511	-1.0186	10	0.72032	D	0.01	-4.8829	9.0413	0.36319	0.2521:0.632:0.116:0.0	.	75	Q7L1I2	SV2B_HUMAN	W	75	ENSP00000377779:R75W;ENSP00000332818:R75W	ENSP00000332818:R75W	R	+	1	2	SV2B	89570720	1.000000	0.71417	0.128000	0.21923	0.061000	0.15899	1.513000	0.35823	1.147000	0.42369	0.563000	0.77884	CGG		0.587	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		27	26	0	0	0	1	0	27	26					T	91769716	C	T	91769716	3	4	485	1	0	0	0	0	1	0	0	0	15415	875	31	1	225	1	SV2B	15	91769716	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12019144	91769716	10761676	71	39408											
THOC6	79228	broad.mit.edu	37	chr16	3075924	3075924	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcccctccgctgtccctgcaGcttgtcctctgctttgagct	8	17	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3075924G>C	ENST00000326266.8	+	3	451		c.e3-1		HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000575576.1_Splice_Site|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000253952.9_Splice_Site|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000574549.1_Splice_Site	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)						apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	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)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCCCTGCAGCTTGTCCTCT	0.582																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.e3-1		THO complex 6 homolog (Drosophila)							92	100	98					16																	3075924		2198	4300	6498	SO:0001630	splice_region_variant	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3075924G>C	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"WD repeat domain containing", "THO complex subunits"	28369	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 35"	615403	"WD repeat domain 58"	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.156-1G>C	16.37:g.3075924G>C						THOC6_ENST00000574549.1_Splice_Site|THOC6_ENST00000575576.1_Splice_Site|THOC6_ENST00000253952.9_Splice_Site		NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			3	451	+								B2RA85|Q8NBR1|Q9BTV9	Splice_Site	SNP	ENST00000326266.8	37		CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012631	0.35511	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.665	0.85250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THOC6	3015925	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	8.339000	0.90041	2.527000	0.85204	0.462000	0.41574	.		0.582	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339	Intron	5	254	0	0	0	1	0	5	254					C	3075924	G	C	3075924	5	2	485	1	0	0	0	0	0	0	1	0	15866	985	34	4	165	4	THOC6	16	3075924	Splice_Site	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		3075924	87278829	72	39409											
NLRC3	197358	broad.mit.edu	37	chr16	3614464	3614464	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatgggcccagaggcggacGaagtgcctcaccagggtggt	16	12	1	1	rs547058160	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3614464G>A	ENST00000301749.7	-	0	879				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_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						AGAGGCGGACGAAGTGCCTCA	0.657													G|||	3	0.000599042	0.0	0.0014	5008	,	,		13730	0.002		0.0	False		,,,				2504	0.0					ENST00000301749.7																			0				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								NLR family, CARD domain containing 3							35	42	40					16																	3614464		2031	4167	6198			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614464G>A	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.3614464G>A						NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	879	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		20	67	0	0	0	1	0	20	67					A	3614464	G	A	3614464	1	1	485	0	1	0	0	0	0	0	0	0	10468	1049	37	1		1	NLRC3	16	3614464	RNA	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	538540	3614464	86740289	73	39410											
GRIN2A	2903	broad.mit.edu	37	chr16	9934647	9934647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caactgccatgactgcccgtTgatagaccacctggatgcaa	9	13	0	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:9934647T>G	ENST00000396573.2	-	8	1817	c.1508A>C	c.(1507-1509)cAa>cCa	p.Q503P	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	503					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)	GACTGCCCGTTGATAGACCAC	0.453																																						ENST00000396573.2																			0				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						c.(1507-1509)cAa>cCa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						75	60	65					16																	9934647		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934647T>G		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.1508A>C	16.37:g.9934647T>G	ENSP00000379818:p.Gln503Pro					GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P	p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			8	1817	-			503					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1508A>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861695	0.32884	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.3	4.19	0.49359	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.353115	0.32028	N	0.006692	T	0.28995	0.0720	L	0.52905	1.665	0.44110	D	0.996887	B;B;B	0.18013	0.0;0.0;0.025	B;B;B	0.28709	0.001;0.002;0.093	T	0.05225	-1.0898	9	.	.	.	.	9.1934	0.37213	0.0:0.0903:0.0:0.9096	.	346;503;503	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	P	503;503;346;503;503	ENSP00000379818:Q503P;ENSP00000385872:Q503P;ENSP00000441572:Q346P;ENSP00000332549:Q503P;ENSP00000379820:Q503P	.	Q	-	2	0	GRIN2A	9842148	1.000000	0.71417	0.425000	0.26659	0.430000	0.31655	3.988000	0.56951	0.841000	0.35020	0.533000	0.62120	CAA		0.453	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			21	86	0	0	0	1	0	21	86					G	9934647	T	G	9934647	3	3	485	1	0	0	0	0	1	0	0	0	6779	1812	63	5	2914	5	GRIN2A	16	9934647	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	6320183	9934647	80420106	74	39411											
ZNF423	23090	broad.mit.edu	37	chr16	49672488	49672488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcgtggcagtgatacttcTtgtcgcccgtatgcagcttg	11	11	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:49672488T>C	ENST00000561648.1	-	4	628	c.575A>G	c.(574-576)aAg>aGg	p.K192R	ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R|ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	192					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)				GTGATACTTCTTGTCGCCCGT	0.587																																						ENST00000561648.1																			0				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						c.(574-576)aAg>aGg		zinc finger protein 423							64	50	55					16																	49672488		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672488T>C	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.575A>G	16.37:g.49672488T>C	ENSP00000455426:p.Lys192Arg					ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R	p.K192R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	628	-		all_cancers(37;0.0155)	192					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.575A>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292889	0.60086	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.24908	1.83;1.83	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.16567	0.415	0.43453	D	0.99564	D	0.76494	0.999	D	0.91635	0.999	T	0.12708	-1.0537	9	.	.	.	.	14.7223	0.69317	0.0:0.0:0.0:1.0	.	192	Q2M1K9	ZN423_HUMAN	R	192;75	ENSP00000262383:K192R;ENSP00000442321:K75R	.	K	-	2	0	ZNF423	48229989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.891000	0.54761	0.459000	0.35465	AAG		0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	44	0	0	0	1	0	5	44					C	49672488	T	C	49672488	3	2	485	1	0	0	0	0	1	0	0	0	17895	1609	56	3	3299	3	ZNF423	16	49672488	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	39737841	49672488	40682265	75	39412											
PABPN1L	390748	broad.mit.edu	37	chr16	88932977	88932977	+	Frame_Shift_Del	DEL	G	G	-													tctggagccaggcctgagtcGggggtgggaagagagagcgg							TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:88932977delG	ENST00000419291.2	-	1	49	c.38delC	c.(37-39)ccgfs	p.P13fs	PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	13						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GGCCTGAGTCGGGGGTGGGAA	0.692																																						ENST00000419291.2																			0				kidney(1)	1						c.(37-39)cgfs		poly(A) binding protein, nuclear 1-like (cytoplasmic)							14	17	16					16																	88932977		1830	4022	5852	SO:0001589	frameshift_variant	390748					cytoplasm	nucleotide binding|RNA binding	g.chr16:88932977delG		CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"RNA binding motif (RRM) containing"	37237	protein-coding gene	gene with protein product	"embryonic poly(A) binding protein 2"					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.38delC	16.37:g.88932977delG	ENSP00000408598:p.Pro13fs					PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs	p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN			1	49	-			13					A1L3B3|A2VDI2	Frame_Shift_Del	DEL	ENST00000419291.2	37	c.38delC	CCDS45547.2																																																																																				0.692	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407502.1	NM_001080487		2	4						2	4	---	---	---	---	-	88932977	G	-	88932977	7	5	485	1	0	1	0	1	0	0	0	0	11369	1116	39	0	858	0	PABPN1L	16	88932977	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RM-01A-11D-A33T-08	39260489	88932977	1421776	76	39413											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		113	5	0	0	0	1	0	113	5					T	7578406	C	T	7578406	3	4	485	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		7578406	73616804	77	39414											
MYH8	4626	broad.mit.edu	37	chr17	10303745	10303745	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctgcgttactgctgaggtCatcagtctccatcttcagct	8	13	6	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10303745C>A	ENST00000403437.2	-	27	3791	c.3697G>T	c.(3697-3699)Gac>Tac	p.D1233Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1233					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						CTGCTGAGGTCATCAGTCTCC	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				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						c.(3697-3699)Gac>Tac		myosin, heavy chain 8, skeletal muscle, perinatal							196	178	184					17																	10303745		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303745C>A		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.3697G>T	17.37:g.10303745C>A	ENSP00000384330:p.Asp1233Tyr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.D1233Y	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3791	-			1233					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3697G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121438	0.56613	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81739	-1.53	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.43919	U	0.000515	D	0.93324	0.7872	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94902	0.8057	10	0.87932	D	0	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1233	P13535	MYH8_HUMAN	Y	1233	ENSP00000384330:D1233Y	ENSP00000252173:D1233Y	D	-	1	0	MYH8	10244470	1.000000	0.71417	0.975000	0.42487	0.312000	0.27988	7.440000	0.80464	2.785000	0.95823	0.655000	0.94253	GAC		0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		83	227	1	0	6.64032e-35	1	7.65218e-35	83	227					A	10303745	C	A	10303745	3	1	485	1	0	0	0	0	1	0	0	0	10041	826	29	4	2172	4	MYH8	17	10303745	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	2725339	10303745	70891465	78	39415											
MYH4	4622	broad.mit.edu	37	chr17	10356568	10356568	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggtctgctggtgggcctcCtggagagccttcttctcctt	13	12	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10356568C>G	ENST00000255381.2	-	24	3122	c.3012G>C	c.(3010-3012)caG>caC	p.Q1004H	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	1004					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						GGTGGGCCTCCTGGAGAGCCT	0.498																																						ENST00000255381.2																			0				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						c.(3010-3012)caG>caC		myosin, heavy chain 4, skeletal muscle							233	215	221					17																	10356568		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356568C>G		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.3012G>C	17.37:g.10356568C>G	ENSP00000255381:p.Gln1004His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q1004H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			24	3122	-			1004						Missense_Mutation	SNP	ENST00000255381.2	37	c.3012G>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717223	0.30413	.	.	ENSG00000141048	ENST00000255381	D	0.89415	-2.51	5.19	-5.65	0.02459	.	0.000000	0.36101	U	0.002783	D	0.90331	0.6975	H	0.94503	3.545	0.44843	D	0.997858	B	0.28128	0.201	B	0.25614	0.062	T	0.78760	-0.2078	10	0.87932	D	0	.	17.4903	0.87701	0.0:0.6973:0.0:0.3027	.	1004	Q9Y623	MYH4_HUMAN	H	1004	ENSP00000255381:Q1004H	ENSP00000255381:Q1004H	Q	-	3	2	MYH4	10297293	0.107000	0.21998	0.909000	0.35828	0.979000	0.70002	-0.499000	0.06413	-1.174000	0.02754	-0.469000	0.05056	CAG		0.498	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		7	534	0	0	0	1	0	7	534					G	10356568	C	G	10356568	3	3	485	1	0	0	0	0	1	0	0	0	10037	680	24	4	2875	4	MYH4	17	10356568	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	52823	10356568	70838642	79	39416											
RICH2	9912	broad.mit.edu	37	chr17	12888219	12888219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccctggggaaagcatgTctacaggtaaccaagccaca	10	12	1	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:12888219T>G	ENST00000379672.5	+	20	2611	c.2311T>G	c.(2311-2313)Tct>Gct	p.S771A	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S771A|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S765A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	771	Interaction with BST2.				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						GGAAAGCATGTCTACAGGTAA	0.532																																						ENST00000379672.5																			0				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						c.(2311-2313)Tct>Gct		Rho GTPase activating protein 44							40	40	40					17																	12888219		1915	4120	6035	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12888219T>G		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.2311T>G	17.37:g.12888219T>G	ENSP00000368994:p.Ser771Ala					ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S765A|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S771A	p.S771A	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			20	2611	+			771					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.2311T>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.486526	0.63962	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T;T;T	0.23754	1.89;2.15;2.02;3.03	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.40040	0.1101	L	0.38175	1.15	0.46096	D	0.99886	P;D;D;P	0.67145	0.956;0.979;0.996;0.956	D;D;D;D	0.76071	0.931;0.982;0.987;0.931	T	0.21965	-1.0230	10	0.59425	D	0.04	.	12.8899	0.58066	0.0:0.0:0.0:1.0	.	765;229;427;771	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	A	771;427;765;229	ENSP00000368994:S771A;ENSP00000437542:S427A;ENSP00000342566:S765A;ENSP00000262444:S229A	ENSP00000262444:S229A	S	+	1	0	ARHGAP44	12828944	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.261000	0.65496	1.917000	0.55516	0.454000	0.30748	TCT		0.532	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		4	82	0	0	0	1	0	4	82					G	12888219	T	G	12888219	3	3	485	1	0	0	0	0	1	0	0	0	13357	1667	58	5	2389	5	RICH2	17	12888219	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	2531651	12888219	68306991	80	39417											
MYO18A	399687	broad.mit.edu	37	chr17	27493471	27493471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctccacctgtggcgagGgggcggcagagtgctctgag	16	12	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:27493471G>A	ENST00000527372.1	-	2	668	c.488C>T	c.(487-489)cCc>cTc	p.P163L	MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	163	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				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)			CTGTGGCGAGGGGGCGGCAGA	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(487-489)cCc>cTc		myosin XVIIIA							24	30	28					17																	27493471		2037	4172	6209	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493471G>A	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.488C>T	17.37:g.27493471G>A	ENSP00000437073:p.Pro163Leu					MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L	p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	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)		2	668	-			163					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.488C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455502	0.43634	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.88509	-2.26;-2.39;-2.28;-2.26	5.24	5.24	0.73138	.	0.255402	0.39475	N	0.001344	D	0.83142	0.5190	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.48162	0.717;0.717;0.906	B;B;B	0.41571	0.347;0.347;0.36	T	0.82438	-0.0457	10	0.28530	T	0.3	.	19.012	0.92877	0.0:0.0:1.0:0.0	.	163;163;163	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	L	163	ENSP00000346291:P163L;ENSP00000435932:P163L;ENSP00000434228:P163L;ENSP00000437073:P163L	ENSP00000346291:P163L	P	-	2	0	MYO18A	24517597	1.000000	0.71417	0.949000	0.38748	0.064000	0.16182	7.208000	0.77907	2.724000	0.93272	0.563000	0.77884	CCC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		6	55	0	0	0	1	0	6	55					A	27493471	G	A	27493471	3	1	485	1	0	0	0	0	1	0	0	0	10065	1232	43	2	5840	2	MYO18A	17	27493471	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	14605252	27493471	53701739	81	39418											
EPX	8288	broad.mit.edu	37	chr17	56274334	56274334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcatcaagaaccagcGtgactgcatccctttcttcc	6	18	2	2	rs191966823	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:56274334G>A	ENST00000225371.5	+	7	946	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	279					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)	AAGAACCAGCGTGACTGCATC	0.577													G|||	4	0.000798722	0.0	0.0058	5008	,	,		18722	0.0		0.0	False		,,,				2504	0.0					ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(835-837)cGt>cAt		eosinophil peroxidase							165	146	153					17																	56274334		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274334G>A	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.836G>A	17.37:g.56274334G>A	ENSP00000225371:p.Arg279His						p.R279H	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	946	+			279					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.836G>A	CCDS11602.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.56	1.384645	0.25031	.	.	ENSG00000121053	ENST00000225371	T	0.70045	-0.45	4.86	-4.02	0.04034	.	1.094700	0.06817	N	0.791377	T	0.56262	0.1973	L	0.55017	1.72	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.49409	-0.8943	10	0.45353	T	0.12	-0.2585	6.4044	0.21656	0.5192:0.0:0.3567:0.1242	.	279	P11678	PERE_HUMAN	H	279	ENSP00000225371:R279H	ENSP00000225371:R279H	R	+	2	0	EPX	53629333	0.000000	0.05858	0.004000	0.12327	0.623000	0.37688	-0.164000	0.09983	-0.530000	0.06349	-1.762000	0.00668	CGT		0.577	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		41	309	0	0	0	1	0	41	309					A	56274334	G	A	56274334	3	1	485	1	0	0	0	0	1	0	0	0	5200	1145	40	1	862	1	EPX	17	56274334	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	28780863	56274334	24920876	82	39419											
KIAA1328	57536	broad.mit.edu	37	chr18	34465544	34465545	+	Frame_Shift_Del	DEL	AG	AG	-													agtgaggaaaaggaagtgacAgaggaaagactgaaagctga					rs369548681		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:34465544_34465545delAG	ENST00000280020.5	+	5	379_380	c.357_358delAG	c.(355-360)acagagfs	p.E121fs	KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000591619.1_Frame_Shift_Del_p.E117fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.E121fs|KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.E13fs	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	121										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGGAAGTGACAGAGGAAAGACT	0.347																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(343-348)acagfs		KIAA1328				9,3527		2,5,1761						5.5	1			51	16,7824		3,10,3907	no	frameshift	KIAA1328	NM_020776.1		5,15,5668	A1A1,A1R,RR		0.2041,0.2545,0.2198				25,11351				SO:0001589	frameshift_variant	57536							g.chr18:34465544_34465545delAG	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.357_358delAG	18.37:g.34465546_34465547delAG	ENSP00000280020:p.Glu121fs					KIAA1328_ENST00000280020.5_Frame_Shift_Del_p.TE119fs|KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.TE11fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.TE119fs|KIAA1328_ENST00000435985.2_5'UTR	p.TE115fs			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	5	1131_1132	+			119					Q05DL0|Q49AG6|Q9P2L8	Frame_Shift_Del	DEL	ENST00000280020.5	37	c.345_346delAG	CCDS45855.1																																																																																				0.347	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		9	7						9	7	---	---	---	---	-	34465545	AG	-	34465544	7	5	485	1	0	1	0	1	0	0	0	0	8225	175	7	0	375	0	KIAA1328	18	34465544	Frame_Shift_Del	DEL	AG	TCGA-TQ-A7RM-01A-11D-A33T-08		34465544	43611704	83	39420											
ALPK2	115701	broad.mit.edu	37	chr18	56202817	56202817	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaggtgaagtgggggaaatCaattctgctttgtccttttt	12	5	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56202817C>A	ENST00000361673.3	-	5	4815	c.4602G>T	c.(4600-4602)ttG>ttT	p.L1534F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1534						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						TGGGGGAAATCAATTCTGCTT	0.463																																						ENST00000361673.3																			0				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						c.(4600-4602)ttG>ttT		alpha-kinase 2							110	108	108					18																	56202817		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202817C>A	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.4602G>T	18.37:g.56202817C>A	ENSP00000354991:p.Leu1534Phe					RP11-1151B14.4_ENST00000591360.1_RNA	p.L1534F	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4815	-			1534					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4602G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156684	0.21454	.	.	ENSG00000198796	ENST00000361673	T	0.45276	0.9	5.66	-11.3	0.00108	.	725.541000	0.00166	N	0.000000	T	0.23330	0.0564	L	0.33485	1.01	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.17349	-1.0372	10	0.59425	D	0.04	12.6011	0.8085	0.01089	0.3501:0.2836:0.1728:0.1934	.	1529;1534	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	F	1534	ENSP00000354991:L1534F	ENSP00000354991:L1534F	L	-	3	2	ALPK2	54353797	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-4.039000	0.00308	-1.845000	0.01176	-0.457000	0.05445	TTG		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		24	124	1	0	1.64293e-13	1	1.82381e-13	24	124					A	56202817	C	A	56202817	3	1	485	1	0	0	0	0	1	0	0	0	545	825	29	4	1946	4	ALPK2	18	56202817	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	21737273	56202817	21874431	84	39421											
MALT1	10892	broad.mit.edu	37	chr18	56367772	56367772	+	Frame_Shift_Del	DEL	T	T	-													ataacaatttcacctttgaaTtcagccagtggtcacagctg							TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56367772delT	ENST00000348428.3	+	4	856	c.598delT	c.(598-600)ttcfs	p.F200fs	MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	200	Ig-like C2-type 1.				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						CACCTTTGAATTCAGCCAGTG	0.403			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(598-600)tcfs		mucosa associated lymphoid tissue lymphoma translocation gene 1							85	78	81					18																	56367772		2203	4300	6503	SO:0001589	frameshift_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56367772delT		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.598delT	18.37:g.56367772delT	ENSP00000319279:p.Phe200fs					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs	p.F200fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			4	856	+			200			Ig-like C2-type 1.		Q9NTB7|Q9ULX4	Frame_Shift_Del	DEL	ENST00000348428.3	37	c.598delT	CCDS11967.1																																																																																				0.403	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			23	96						23	96	---	---	---	---	-	56367772	T	-	56367772	7	5	485	1	0	1	0	1	0	0	0	0	9202	1493	52	0	612	0	MALT1	18	56367772	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RM-01A-11D-A33T-08	164955	56367772	21709476	85	39422											
ZNF561	93134	broad.mit.edu	37	chr19	9721559	9721559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaattagtgaaggattTcccacatttcttagtctttt	6	6	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:9721559T>C	ENST00000302851.3	-	6	1141	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					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(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GTGAAGGATTTCCCACATTTC	0.368																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(778-780)Aaa>Gaa		zinc finger protein 561							76	77	77					19																	9721559		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721559T>C	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.778A>G	19.37:g.9721559T>C	ENSP00000303915:p.Lys260Glu					ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000326044.5_3'UTR	p.K260E	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1141	-			260					B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.778A>G	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012799	0.75161	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.21543	2.94;3.07;2.97;2.0	1.42	0.344	0.16006	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44117	0.1278	M	0.89095	3.005	0.27044	N	0.963948	P	0.52842	0.956	D	0.65010	0.931	T	0.26573	-1.0099	9	0.87932	D	0	.	4.6948	0.12799	0.0:0.2007:0.0:0.7993	.	260	Q8N587	ZN561_HUMAN	E	191;260;124;266	ENSP00000393074:K191E;ENSP00000303915:K260E;ENSP00000346687:K124E;ENSP00000392013:K266E	ENSP00000303915:K260E	K	-	1	0	ZNF561	9582559	0.022000	0.18835	0.010000	0.14722	0.722000	0.41435	0.858000	0.27845	0.051000	0.15978	0.248000	0.18094	AAA		0.368	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		57	163	0	0	0	1	0	57	163					C	9721559	T	C	9721559	3	2	485	1	0	0	0	0	1	0	0	0	17989	1792	62	3	686	3	ZNF561	19	9721559	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		9721559	49407424	86	39423											
ZNF676	163223	broad.mit.edu	37	chr19	22363970	22363970	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atactcttataataagtaagGgttgaggaccagttaaaagc	9	5	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:22363970G>T	ENST00000397121.2	-	3	866	c.549C>A	c.(547-549)acC>acA	p.T183T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	183				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174). {ECO:0000305}.	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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAAGTAAGGGTTGAGGACC	0.348																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(547-549)acC>acA		zinc finger protein 676							53	56	55					19																	22363970		2010	4210	6220	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363970G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.549C>A	19.37:g.22363970G>T							p.T183T	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	866	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	183	TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).				A8MVX5	Silent	SNP	ENST00000397121.2	37	c.549C>A	CCDS42539.1																																																																																				0.348	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		23	148	1	0	2.98393e-07	1	3.22371e-07	23	148					T	22363970	G	T	22363970	2	4	485	1	0	0	0	0	0	0	0	1	18080	1219	43	4		4	ZNF676	19	22363970	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	12642411	22363970	36765013	87	39424											
GPATCH1	55094	broad.mit.edu	37	chr19	33581715	33581715	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctacctttgtgtcttcaCgacagaacagagcagacaaa	7	12	3	3	rs144223467	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:33581715C>T	ENST00000170564.2	+	3	552	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	80					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTGTCTTCACGACAGAACAG	0.388																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(238-240)Cga>Tga		G patch domain containing 1							119	103	108					19																	33581715		2203	4300	6503	SO:0001587	stop_gained	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33581715C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.238C>T	19.37:g.33581715C>T	ENSP00000170564:p.Arg80*						p.R80*	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			3	552	+	Esophageal squamous(110;0.137)		80					Q8IZV6|Q8N3B7|Q9NW94	Nonsense_Mutation	SNP	ENST00000170564.2	37	c.238C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	40	8.005463	0.98605	.	.	ENSG00000076650	ENST00000170564	.	.	.	5.95	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1459	15.6427	0.77020	0.2673:0.7327:0.0:0.0	.	.	.	.	X	80	.	ENSP00000170564:R80X	R	+	1	2	GPATCH1	38273555	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.396000	0.52565	1.466000	0.48025	0.655000	0.94253	CGA		0.388	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		4	273	0	0	0	1	0	4	273					T	33581715	C	T	33581715	4	4	485	1	0	0	0	0	0	1	0	0	6590	528	19	1	248	1	GPATCH1	19	33581715	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	11217745	33581715	25547268	88	39425											
ZNF701	55762	broad.mit.edu	37	chr19	53086322	53086322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgacaaagttttcagtcGcaaatcacaccttgaaagac	7	9	2	3	rs186877176	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:53086322G>A	ENST00000540331.1	+	5	1433	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	403					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTTTTCAGTCGCAAATCACAC	0.398													G|||	2	0.000399361	0.0	0.0029	5008	,	,		23562	0.0		0.0	False		,,,				2504	0.0				NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1207-1209)cGc>cAc		zinc finger protein 701							84	86	85					19																	53086322		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086322G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1208G>A	19.37:g.53086322G>A	ENSP00000444339:p.Arg403His					CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H	p.R403H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1433	+			337					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1208G>A	CCDS54311.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.090	0.774285	0.16051	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.07327	3.2;3.2;3.2	1.87	-3.75	0.04372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.04090	-0.28	0.09310	N	1	B;D	0.67145	0.172;0.996	B;P	0.53518	0.019;0.728	T	0.24012	-1.0172	9	0.32370	T	0.25	.	4.3018	0.10928	0.3412:0.0:0.5008:0.158	.	403;337	F5GZM6;Q9NV72	.;ZN701_HUMAN	H	337;403;403	ENSP00000375662:R337H;ENSP00000301093:R403H;ENSP00000444339:R403H	ENSP00000301093:R403H	R	+	2	0	ZNF701	57778134	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-7.247000	0.00041	-0.766000	0.04639	0.400000	0.26472	CGC		0.398	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		5	207	0	0	0	1	0	5	207					A	53086322	G	A	53086322	3	1	485	1	0	0	0	0	1	0	0	0	18102	1087	38	1	1222	1	ZNF701	19	53086322	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	19504607	53086322	6042661	89	39426											
C20orf107	388799	broad.mit.edu	37	chr20	55108405	55108405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctctgctcaccatgtggaCgctgaaatcgtccctggtcc	9	14	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr20:55108405C>G	ENST00000371325.1	+	1	104	c.8C>G	c.(7-9)aCg>aGg	p.T3R		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	3						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											ACCATGTGGACGCTGAAATCG	0.562																																						ENST00000371325.1																			0											c.(7-9)aCg>aGg		family with sequence similarity 209, member B							89	84	86					20																	55108405		2203	4296	6499	SO:0001583	missense	388799					integral to membrane		g.chr20:55108405C>G	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 107"	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.8C>G	20.37:g.55108405C>G	ENSP00000360376:p.Thr3Arg						p.T3R	NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN			1	104	+			3					Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	c.8C>G	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608548	0.14002	.	.	ENSG00000213714	ENST00000371325	T	0.09073	3.02	2.82	-3.06	0.05379	.	0.785155	0.11046	N	0.605532	T	0.11965	0.0291	L	0.55481	1.735	0.09310	N	0.999996	D	0.59357	0.985	P	0.50934	0.654	T	0.12192	-1.0557	10	0.72032	D	0.01	-6.7223	7.6774	0.28494	0.0:0.3359:0.0:0.6641	.	3	Q5JX69	CT107_HUMAN	R	3	ENSP00000360376:T3R	ENSP00000360376:T3R	T	+	2	0	C20orf107	54541812	0.022000	0.18835	0.511000	0.27724	0.079000	0.17450	-1.087000	0.03383	-0.577000	0.05967	-0.501000	0.04562	ACG		0.562	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			24	147	0	0	0	1	0	24	147					G	55108405	C	G	55108405	3	3	485	1	0	0	0	0	1	0	0	0	2077	536	19	4	10	4	C20orf107	20	55108405	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		55108405	7917115	90	39427											
C22orf36	2678	broad.mit.edu	37	chr22	24985856	24985856	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggagatggggtcgaccgggTtgaggaaggccacatctctg	18	8	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr22:24985856T>C	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.N80S|FAM211B_ENST00000495297.1_5'UTR	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						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)	GTCGACCGGGTTGAGGAAGGC	0.627																																						ENST00000318753.8																			0											c.(238-240)aAc>aGc		family with sequence similarity 211, member B							64	68	67					22																	24985856		1980	4168	6148	SO:0001627	intron_variant	388886							g.chr22:24985856T>C	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	ENST00000248923.4:c.-429+6080T>C	22.37:g.24985856T>C						GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	p.N80S	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			2	262	-			80					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.239A>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719022	0.48622	.	.	ENSG00000178026	ENST00000318753	T	0.55588	0.51	4.15	1.94	0.25998	.	0.000000	0.85682	U	0.000000	T	0.46908	0.1417	M	0.73962	2.25	0.37349	D	0.910712	P	0.40332	0.713	B	0.36464	0.225	T	0.50482	-0.8823	10	0.62326	D	0.03	.	6.4588	0.21944	0.0:0.0879:0.1569:0.7553	.	80	Q2VPJ9	LRC6X_HUMAN	S	80	ENSP00000320520:N80S	ENSP00000320520:N80S	N	-	2	0	C22orf36	23315856	1.000000	0.71417	0.057000	0.19452	0.463000	0.32649	3.327000	0.52045	0.215000	0.20761	0.448000	0.29417	AAC		0.627	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		20	24	0	0	0	1	0	20	24					C	24985856	T	C	24985856	1	2	485	0	1	0	0	0	0	0	0	0	2146	1725	60	3		3	C22orf36	22	24985856	Intron	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		24985856	26318710	91	39428											
RS1	6247	broad.mit.edu	37	chrX	18660259	18660259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaccgtggaggtgcggtcCgagttgccatagaagaccta	14	9	0	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	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-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(538-540)tcG>tcA		retinoschisin 1							80	70	73					X																	18660259		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660259C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.540G>A	X.37:g.18660259C>T						CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	p.S180S	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			6	580	-	Hepatocellular(33;0.183)		180			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.540G>A	CCDS14187.1																																																																																				0.587	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			44	144	0	0	0	1	0	44	144					T	18660259	C	T	18660259	2	4	485	1	0	0	0	0	0	0	0	1	13693	639	23	1		1	RS1	23	18660259	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		18660259	136610301	92	39429											
CASK	8573	broad.mit.edu	37	chrX	41383253	41383253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaatgaaaacaacaaaaGgagcaaactctgcagttctc	7	10	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:41383253G>A	ENST00000378163.1	-	26	3029	c.2555C>T	c.(2554-2556)cCt>cTt	p.P852L	CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000318588.9_Missense_Mutation_p.P847L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	852	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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						AACAACAAAAGGAGCAAACTC	0.353																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2539-2541)cCt>cTt		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							110	94	99					X																	41383253		2202	4300	6502	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41383253G>A	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.2555C>T	X.37:g.41383253G>A	ENSP00000367405:p.Pro852Leu					CASK_ENST00000378163.1_Missense_Mutation_p.P852L|CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L	p.P847L			O14936	CSKP_HUMAN			26	2585	-			852			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.2540C>T		.	.	.	.	.	.	.	.	.	.	G	16.26	3.073204	0.55646	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.69	4.84	0.62591	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.52532	D	0.000070	T	0.80166	0.4573	H	0.95114	3.625	0.80722	D	1	D;B;D;D;D	0.89917	0.999;0.01;1.0;1.0;1.0	D;B;D;D;D	0.91635	0.959;0.004;0.999;0.995;0.988	D	0.85718	0.1323	10	0.87932	D	0	.	13.8199	0.63313	0.0752:0.0:0.9248:0.0	.	823;824;847;852;444	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	L	823;847;835;852;444;307;835;847;824	ENSP00000400526:P823L;ENSP00000322727:P847L;ENSP00000354641:P835L;ENSP00000367405:P852L;ENSP00000367421:P444L;ENSP00000367410:P307L;ENSP00000367400:P835L;ENSP00000367408:P847L;ENSP00000398007:P824L	ENSP00000322727:P847L	P	-	2	0	CASK	41268197	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	9.357000	0.97099	1.169000	0.42739	0.600000	0.82982	CCT		0.353	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		3	84	0	0	0	1	0	3	84					A	41383253	G	A	41383253	3	1	485	1	0	0	0	0	1	0	0	0	2665	1000	35	2	233	2	CASK	23	41383253	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	22722994	41383253	113887307	93	39430											
SLC9A7	84679	broad.mit.edu	37	chrX	46531996	46531996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcacttacccaataatgaAgcatgaaacagcagtcccca	6	12	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:46531996A>G	ENST00000328306.4	-	4	695	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	224					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCAATAATGAAGCATGAAACA	0.383																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(670-672)Ttc>Ctc		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							145	120	129					X																	46531996		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46531996A>G	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.670T>C	X.37:g.46531996A>G	ENSP00000330320:p.Phe224Leu						p.F224L	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			4	695	-			224					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.670T>C	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708295	0.68615	.	.	ENSG00000065923	ENST00000328306	T	0.13196	2.61	6.02	6.02	0.97574	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.17474	0.49	0.80722	D	1	B	0.17852	0.024	B	0.26969	0.075	T	0.23868	-1.0176	10	0.23302	T	0.38	.	15.4565	0.75318	1.0:0.0:0.0:0.0	.	224	Q96T83	SL9A7_HUMAN	L	224	ENSP00000330320:F224L	ENSP00000330320:F224L	F	-	1	0	SLC9A7	46416940	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.849000	0.92178	2.034000	0.60081	0.486000	0.48141	TTC		0.383	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		77	101	0	0	0	1	0	77	101					G	46531996	A	G	46531996	3	3	485	1	0	0	0	0	1	0	0	0	14719	72	3	3	1563	3	SLC9A7	23	46531996	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	5148743	46531996	108738564	94	39431											
CLCN5	1184	broad.mit.edu	37	chrX	49851213	49851213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacaaacattgcctggtgtCggaagcgaaagaccacccag	11	12	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:49851213C>T	ENST00000307367.2	+	8	1324	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W|CLCN5_ENST00000376088.3_Missense_Mutation_p.R415W			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	345					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)					TGCCTGGTGTCGGAAGCGAAA	0.522																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1243-1245)Cgg>Tgg		chloride channel, voltage-sensitive 5							107	83	91					X																	49851213		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851213C>T	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.1033C>T	X.37:g.49851213C>T	ENSP00000304257:p.Arg345Trp					CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W|CLCN5_ENST00000307367.2_Missense_Mutation_p.R345W	p.R415W	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			11	1884	+	Ovarian(276;0.236)		345					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1243C>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131438	0.77549	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.7	5.7	0.88788	Chloride channel, core (2);	0.053343	0.85682	D	0.000000	D	0.98036	0.9353	H	0.95850	3.73	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62382	0.901;0.653	D	0.99282	1.0896	10	0.87932	D	0	-1.0247	17.5228	0.87792	0.0:1.0:0.0:0.0	.	345;415	P51795;P51795-2	CLCN5_HUMAN;.	W	415;247;415;345;345	ENSP00000365256:R415W;ENSP00000365259:R415W;ENSP00000365276:R345W;ENSP00000304257:R345W	ENSP00000304257:R345W	R	+	1	2	CLCN5	49737953	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.440000	0.44855	2.408000	0.81797	0.436000	0.28706	CGG		0.522	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			68	81	0	0	0	1	0	68	81					T	49851213	C	T	49851213	3	4	485	1	0	0	0	0	1	0	0	0	3466	875	31	1	1277	1	CLCN5	23	49851213	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	3319217	49851213	105419347	95	39432											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722740	64722740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggcaaagacgacctcCcctgtgccgggaacagcatg	13	13	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:64722740C>T	ENST00000338957.4	+	5	2229	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	721							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						AGACGACCTCCCCTGTGCCGG	0.602																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2161-2163)cCc>cTc		zinc finger CCCH-type containing 12B							51	54	53					X																	64722740		2172	4253	6425	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722740C>T	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.2162C>T	X.37:g.64722740C>T	ENSP00000340839:p.Pro721Leu					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	p.P721L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2229	+			710					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.2162C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241177	0.39598	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.23147	1.92;1.92	5.79	5.79	0.91817	.	0.104891	0.64402	D	0.000002	T	0.45994	0.1370	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21621	-1.0240	10	0.12430	T	0.62	-22.411	17.3706	0.87376	0.0:1.0:0.0:0.0	.	710	Q5HYM0	ZC12B_HUMAN	L	721;710;657	ENSP00000340839:P721L;ENSP00000408077:P710L	ENSP00000218172:P657L	P	+	2	0	ZC3H12B	64639465	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.539000	0.60657	2.426000	0.82243	0.506000	0.49869	CCC		0.602	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		47	49	0	0	0	1	0	47	49					T	64722740	C	T	64722740	3	4	485	1	0	0	0	0	1	0	0	0	17559	623	22	2	2180	2	ZC3H12B	23	64722740	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14871527	64722740	90547820	96	39433											
BRWD3	254065	broad.mit.edu	37	chrX	79932815	79932815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcttgattcctgtccGgggctctctgccatcaccat	7	14	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:79932815G>A	ENST00000373275.4	-	41	4918	c.4702C>T	c.(4702-4704)Cgg>Tgg	p.R1568W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1568					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						ATTCCTGTCCGGGGCTCTCTG	0.358																																						ENST00000373275.4																			0				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						c.(4702-4704)Cgg>Tgg		bromodomain and WD repeat domain containing 3							43	41	41					X																	79932815		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79932815G>A		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.4702C>T	X.37:g.79932815G>A	ENSP00000362372:p.Arg1568Trp					BRWD3_ENST00000473691.1_5'UTR	p.R1568W	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4918	-			1568					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4702C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851219	0.32699	.	.	ENSG00000165288	ENST00000373275	T	0.55760	0.5	4.22	1.3	0.21679	.	0.642862	0.14338	N	0.325889	T	0.33644	0.0870	L	0.29908	0.895	0.33725	D	0.617486	B	0.06786	0.001	B	0.04013	0.001	T	0.27571	-1.0070	9	.	.	.	-0.2419	5.1105	0.14806	0.0836:0.1416:0.6251:0.1496	.	1568	Q6RI45	BRWD3_HUMAN	W	1568	ENSP00000362372:R1568W	.	R	-	1	2	BRWD3	79819471	1.000000	0.71417	0.955000	0.39395	0.992000	0.81027	4.761000	0.62243	-0.035000	0.13691	-0.376000	0.06991	CGG		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		68	81	0	0	0	1	0	68	81					A	79932815	G	A	79932815	3	1	485	1	0	0	0	0	1	0	0	0	1526	1115	39	1	710	1	BRWD3	23	79932815	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	15210075	79932815	75337745	97	39434											
PABPC5	140886	broad.mit.edu	37	chrX	90691183	90691183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactttcaccaatgttttcGttaaaaacattggagacgac	6	9	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:90691183G>A	ENST00000312600.3	+	2	821	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	203	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V203I(2)		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						CAATGTTTTCGTTAAAAACAT	0.448																																						ENST00000312600.3																			2	Substitution - Missense(2)	p.V203I(2)	central_nervous_system(2)	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						c.(607-609)Gtt>Att		poly(A) binding protein, cytoplasmic 5							41	42	42					X																	90691183		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691183G>A	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.607G>A	X.37:g.90691183G>A	ENSP00000308012:p.Val203Ile					PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	p.V203I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	821	+			203			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.607G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	4.678	0.126045	0.08931	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.27104	1.69;1.69	4.53	2.77	0.32553	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055265	0.64402	D	0.000001	T	0.14527	0.0351	L	0.35644	1.08	0.34867	D	0.743236	B	0.30634	0.288	B	0.25987	0.065	T	0.18840	-1.0324	10	0.12103	T	0.63	.	5.7808	0.18306	0.3337:0.0:0.6663:0.0	.	203	Q96DU9	PABP5_HUMAN	I	39;203;171	ENSP00000362197:V39I;ENSP00000308012:V203I	ENSP00000308012:V203I	V	+	1	0	PABPC5	90577839	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	5.886000	0.69743	0.641000	0.30601	0.600000	0.82982	GTT		0.448	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		6	127	0	0	0	1	0	6	127					A	90691183	G	A	90691183	3	1	485	1	0	0	0	0	1	0	0	0	11367	1145	40	1	609	1	PABPC5	23	90691183	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10758368	90691183	64579377	98	39435											
CHRDL1	91851	broad.mit.edu	37	chrX	109937508	109937508	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagcgggacagacctcCagcctgtcggcttggtggag	16	10	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:109937508C>A	ENST00000372045.1	-	8	771	c.640G>T	c.(640-642)Gga>Tga	p.G214*	CHRDL1_ENST00000218054.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*			Q9BU40	CRDL1_HUMAN	chordin-like 1	214					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GACAGACCTCCAGCCTGTCGG	0.473																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(658-660)Gga>Tga		chordin-like 1							96	89	91					X																	109937508		2203	4300	6503	SO:0001587	stop_gained	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109937508C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"megalocornea 1 (X-linked)"	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.640G>T	X.37:g.109937508C>A	ENSP00000361115:p.Gly214*					CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.G214*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*	p.G220*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			8	854	-			214					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Nonsense_Mutation	SNP	ENST00000372045.1	37	c.658G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.828755	0.96996	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.18	5.18	0.71444	.	0.240439	0.41605	D	0.000844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0573	9.2949	0.37808	0.0:0.8333:0.0:0.1667	.	.	.	.	X	214;141;220;220;221;141;220	.	.	G	-	1	0	CHRDL1	109824164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.638000	0.46562	2.493000	0.84123	0.600000	0.82982	GGA		0.473	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		53	181	1	0	9.55421e-19	1	1.07042e-18	53	181					A	109937508	C	A	109937508	4	1	485	1	0	0	0	0	0	1	0	0	3373	603	21	4	735	4	CHRDL1	23	109937508	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	19246325	109937508	45333052	99	39436											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879233	128879233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggattacaggctttacaGggtctgcaggtgacaatcat	12	8	2	1	rs201743054		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:128879233G>T	ENST00000371106.3	+	4	481	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	97						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						AGGCTTTACAGGGTCTGCAGG	0.493																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(289-291)Ggg>Tgg		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							330	200	244					X																	128879233		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128879233G>T	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.289G>T	X.37:g.128879233G>T	ENSP00000360147:p.Gly97Trp					XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			4	481	+			97					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.289G>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471103	0.84533	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	D	0.89810	-2.57	5.67	5.67	0.87782	Creatinase (1);	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98264	1.0500	10	0.87932	D	0	-21.8851	14.0531	0.64749	0.0:0.0:1.0:0.0	.	97;97	B4DV70;O43895	.;XPP2_HUMAN	W	97	ENSP00000360147:G97W	ENSP00000360146:G97W	G	+	1	0	XPNPEP2	128706914	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	8.345000	0.90057	2.391000	0.81399	0.600000	0.82982	GGG		0.493	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		3	78	1	0	0.004672	1	0.00479078	3	78					T	128879233	G	T	128879233	3	4	485	1	0	0	0	0	1	0	0	0	17440	1000	35	4	303	4	XPNPEP2	23	128879233	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	18941725	128879233	26391327	100	39437											
ENOX2	10495	broad.mit.edu	37	chrX	129843238	129843238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatagcctatttcgtagaCccacagccatctaaaatctc	5	13	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:129843238C>T	ENST00000370927.1	-	1	49	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	ENOX2_ENST00000338144.3_Missense_Mutation_p.V10I|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Intron			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	10					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTTCGTAGACCCACAGCCAT	0.423																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(28-30)Gtc>Atc		ecto-NOX disulfide-thiol exchanger 2							190	145	160					X																	129843238		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129843238C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.28G>A	X.37:g.129843238C>T	ENSP00000359965:p.Val10Ile					ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000370927.1_Missense_Mutation_p.V10I	p.V10I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			4	445	-			10					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.28G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	7.773	0.707794	0.15239	.	.	ENSG00000165675	ENST00000338144;ENST00000370927	.	.	.	2.92	-0.727	0.11166	.	2.052620	0.02905	N	0.135994	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09574	-1.0668	8	.	.	.	.	2.9361	0.05815	0.0:0.357:0.2328:0.4102	.	10	Q16206	ENOX2_HUMAN	I	10	.	.	V	-	1	0	ENOX2	129670919	0.006000	0.16342	0.023000	0.16930	0.063000	0.16089	-0.569000	0.05902	-0.291000	0.09012	-0.191000	0.12829	GTC		0.423	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		26	147	0	0	0	1	0	26	147					T	129843238	C	T	129843238	3	4	485	1	0	0	0	0	1	0	0	0	5127	507	18	2	1856	2	ENOX2	23	129843238	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	964005	129843238	25427322	101	39438											
SPANXC	64663	broad.mit.edu	37	chrX	140336553	140336553	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgttggattcacaggggacgCtcctcttcaccccgccggca	11	16	3	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:140336553C>G	ENST00000358993.2	-	1	76	c.38G>C	c.(37-39)aGc>aCc	p.S13T		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	13						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ACAGGGGACGCTCCTCTTCAC	0.507																																						ENST00000358993.2																			0				large_intestine(2)|lung(3)|pancreas(1)	6						c.(37-39)aGc>aCc		SPANX family, member C							88	119	109					X																	140336553		2197	4292	6489	SO:0001583	missense	64663					cytoplasm|nucleus		g.chrX:140336553C>G	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.38G>C	X.37:g.140336553C>G	ENSP00000351884:p.Ser13Thr						p.S13T	NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN			1	76	-	Acute lymphoblastic leukemia(192;7.65e-05)		13					Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	c.38G>C	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	9.374	1.071330	0.20147	.	.	ENSG00000198573	ENST00000358993	T	0.08102	3.13	.	.	.	.	.	.	.	.	T	0.18718	0.0449	M	0.63428	1.95	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.09250	-1.0683	7	0.56958	D	0.05	.	.	.	.	.	13	Q9NY87	SPNXC_HUMAN	T	13	ENSP00000351884:S13T	ENSP00000351884:S13T	S	-	2	0	SPANXC	140164219	0.172000	0.23043	0.001000	0.08648	0.001000	0.01503	-1.340000	0.02650	-0.728000	0.04882	-0.715000	0.03620	AGC		0.507	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661		5	230	0	0	0	1	0	5	230					G	140336553	C	G	140336553	3	3	485	1	0	0	0	0	1	0	0	0	14987	797	28	4	263	4	SPANXC	23	140336553	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	10493315	140336553	14934007	102	39439											
CLK2	1196	broad.mit.edu	37	chr1	155240701	155240701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgcttatgctttcggctcCgatagtgttcacggtaactc	10	11	1	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr1:155240701C>T	ENST00000368361.4	-	2	383	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q			P49760	CLK2_HUMAN	CDC-like kinase 2	23					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)			CTTTCGGCTCCGATAGTGTTC	0.572								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(67-69)cGg>cAg	Other conserved DNA damage response genes	CDC-like kinase 2							129	122	124					1																	155240701		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240701C>T	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.68G>A	1.37:g.155240701C>T	ENSP00000357345:p.Arg23Gln					CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q|CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q	p.R23Q			P49760	CLK2_HUMAN	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)		2	383	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		23					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.68G>A		.	.	.	.	.	.	.	.	.	.	.	18.77	3.695639	0.68386	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.54866	0.55;0.57;0.56;0.57	4.58	3.66	0.41972	.	0.109377	0.64402	N	0.000012	T	0.29288	0.0729	L	0.58101	1.795	0.42490	D	0.992897	B;B	0.31318	0.214;0.319	B;B	0.27887	0.039;0.084	T	0.12167	-1.0558	10	0.30078	T	0.28	.	11.1847	0.48648	0.0:0.9088:0.0:0.0911	.	23;23	P49760;P49760-3	CLK2_HUMAN;.	Q	23	ENSP00000354856:R23Q;ENSP00000357345:R23Q;ENSP00000347759:R23Q;ENSP00000441023:R23Q	ENSP00000347759:R23Q	R	-	2	0	CLK2	153507325	1.000000	0.71417	0.852000	0.33557	0.916000	0.54674	4.127000	0.57944	1.153000	0.42468	0.549000	0.68633	CGG		0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		7	137	0	0	0	1	0	7	137					T	155240701	C	T	155240701	3	4	486	1	0	0	0	0	1	0	0	0	3537	652	23	1	1476	1	CLK2	1	155240701	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08		155240701	94009920	1	39440											
NEB	4703	broad.mit.edu	37	chr2	152420364	152420364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccagatcagcatgcttGgctccaacaatgggaatgta	9	10	2	1	rs572099716		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:152420364G>A	ENST00000172853.10	-	90	13596	c.13449C>T	c.(13447-13449)gcC>gcT	p.A4483A	NEB_ENST00000397345.3_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A|NEB_ENST00000427231.2_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000604864.1_Silent_p.A6184A			P20929	NEBU_HUMAN	nebulin	4483					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)		CAGCATGCTTGGCTCCAACAA	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		2084	0.0		0.0	False		,,,				2504	0.001					ENST00000397345.3																			0				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						c.(18550-18552)gcC>gcT		nebulin							79	80	80					2																	152420364		1983	4179	6162	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420364G>A	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.13449C>T	2.37:g.152420364G>A						NEB_ENST00000604864.1_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000172853.10_Silent_p.A4483A|NEB_ENST00000427231.2_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A	p.A6184A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	118	18754	-			6173					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18552C>T																																																																																					0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		17	27	0	0	0	1	0	17	27					A	152420364	G	A	152420364	2	1	486	1	0	0	0	0	0	0	0	1	10302	1335	47	2		2	NEB	2	152420364	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		152420364	90779009	2	39441											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			58	92	0	0	0	1	0	58	92					T	209113112	C	T	209113112	3	4	486	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	56692748	209113112	34086261	3	39442											
TRIP12	9320	broad.mit.edu	37	chr2	230633990	230633990	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcctacagcattccatcaGtgtctttgcatcccaagtgt	8	12	2	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:230633990G>C	ENST00000283943.5	-	39	5813	c.5635C>G	c.(5635-5637)Ctg>Gtg	p.L1879V	TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1879					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)		CATTCCATCAGTGTCTTTGCA	0.423																																						ENST00000283943.5																			0				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						c.(5635-5637)Ctg>Gtg		thyroid hormone receptor interactor 12							151	134	140					2																	230633990		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230633990G>C	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.5635C>G	2.37:g.230633990G>C	ENSP00000283943:p.Leu1879Val					TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V|TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V	p.L1879V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	39	5813	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1879					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5635C>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212750	0.58452	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.44	-0.794	0.10918	HECT (4);	0.000000	0.64402	D	0.000001	T	0.73225	0.3560	M	0.67569	2.06	0.80722	D	1	D;D;D	0.57257	0.979;0.979;0.979	D;D;D	0.71414	0.973;0.973;0.973	T	0.74708	-0.3574	10	0.87932	D	0	.	13.2114	0.59828	0.301:0.0:0.699:0.0	.	1609;1927;1879	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1879;1609;1927;139	ENSP00000283943:L1879V;ENSP00000373697:L1609V;ENSP00000373696:L1927V;ENSP00000408330:L139V	ENSP00000283943:L1879V	L	-	1	2	TRIP12	230342234	0.013000	0.17824	0.720000	0.30636	0.948000	0.59901	0.264000	0.18497	-0.114000	0.11936	0.313000	0.20887	CTG		0.423	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	310	0	0	0	1	0	4	310					C	230633990	G	C	230633990	3	2	486	1	0	0	0	0	1	0	0	0	16553	1020	36	4	355	4	TRIP12	2	230633990	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	21520878	230633990	12565383	4	39443											
CNTN6	27255	broad.mit.edu	37	chr3	1415355	1415355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	actacttctcaactaagttgGagagcaggcccagataataa	8	9	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:1415355G>C	ENST00000446702.2	+	15	2481	c.1854G>C	c.(1852-1854)tgG>tgC	p.W618C	CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C|CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C			Q9UQ52	CNTN6_HUMAN	contactin 6	618	Fibronectin type-III 1. {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)		AACTAAGTTGGAGAGCAGGCC	0.443																																						ENST00000446702.2																			0				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						c.(1852-1854)tgG>tgC		contactin 6							82	84	84					3																	1415355		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415355G>C	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.1854G>C	3.37:g.1415355G>C	ENSP00000407822:p.Trp618Cys					CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C|CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C	p.W618C			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	15	2481	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	618			Fibronectin type-III 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1854G>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912309	0.72983	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.84223	-1.82;-1.82;-1.82	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000133	D	0.96327	0.8802	H	0.99719	4.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98805	1.0741	10	0.87932	D	0	.	18.151	0.89674	0.0:0.0:1.0:0.0	.	618	Q9UQ52	CNTN6_HUMAN	C	618;546;618	ENSP00000407822:W618C;ENSP00000442791:W546C;ENSP00000341882:W618C	ENSP00000341882:W618C	W	+	3	0	CNTN6	1390355	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.306000	0.96204	2.339000	0.79563	0.591000	0.81541	TGG		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		10	147	0	0	0	1	0	10	147					C	1415355	G	C	1415355	3	2	486	1	0	0	0	0	1	0	0	0	3645	1183	41	4	1908	4	CNTN6	3	1415355	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		1415355	196607075	5	39444											
RFTN1	23180	broad.mit.edu	37	chr3	16475544	16475544	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggacccagggagctccGctggagtggagagaggagag	19	8	0	3	rs532776757		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:16475544G>A	ENST00000334133.4	-	3	418	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RFTN1_ENST00000432519.1_Splice_Site_p.A13V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	49					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGGAGCTCCGCTGGAGTGGA	0.662																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.e3-1		raftlin, lipid raft linker 1							18	19	19					3																	16475544		2201	4299	6500	SO:0001630	splice_region_variant	23180					plasma membrane		g.chr3:16475544G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.146-1C>T	3.37:g.16475544G>A						RFTN1_ENST00000432519.1_Splice_Site_p.A13_splice	p.A49_splice	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			3	418	-			49					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Splice_Site	SNP	ENST00000334133.4	37	c.145_splice	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196017	0.38806	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.21	3.39	0.38822	.	0.350104	0.26334	N	0.024978	T	0.24314	0.0589	L	0.38838	1.175	0.48901	D	0.999725	P;B	0.38078	0.617;0.266	B;B	0.30029	0.11;0.039	T	0.07673	-1.0760	10	0.56958	D	0.05	.	10.1245	0.42641	0.0727:0.0:0.7923:0.135	.	13;49	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	13;49;49;49;49;49	ENSP00000403926:A13V;ENSP00000334153:A49V;ENSP00000403997:A49V;ENSP00000409427:A49V;ENSP00000388718:A49V;ENSP00000393216:A49V	ENSP00000334153:A49V	A	-	2	0	RFTN1	16450548	1.000000	0.71417	0.899000	0.35326	0.354000	0.29330	3.849000	0.55910	1.188000	0.43014	0.561000	0.74099	GCG		0.662	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	Missense_Mutation	7	48	0	0	0	1	0	7	48					A	16475544	G	A	16475544	5	1	486	1	0	0	0	0	0	0	1	0	13258	1101	38	1	1622	1	RFTN1	3	16475544	Splice_Site	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	15060189	16475544	181546886	6	39445											
GADL1	339896	broad.mit.edu	37	chr3	30842415	30842415	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcacgattaactctttcttCaaggcctaatgtacccaggg	8	11	3	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:30842415C>G	ENST00000282538.5	-	12	1366	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	GADL1_ENST00000454381.3_Missense_Mutation_p.E406Q	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	406					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						ACTCTTTCTTCAAGGCCTAAT	0.468																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(1216-1218)Gaa>Caa		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						132	123	126					3																	30842415		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30842415C>G	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1216G>C	3.37:g.30842415C>G	ENSP00000282538:p.Glu406Gln					GADL1_ENST00000282538.5_Missense_Mutation_p.E406Q	p.E406Q			Q6ZQY3	GADL1_HUMAN			12	1262	-			406						Missense_Mutation	SNP	ENST00000282538.5	37	c.1216G>C	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462486	0.84425	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.35973	1.28;1.28	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.113510	0.56097	D	0.000031	T	0.52964	0.1767	M	0.62723	1.935	0.45087	D	0.998109	D	0.53619	0.961	P	0.54815	0.761	T	0.51012	-0.8759	10	0.48119	T	0.1	.	19.3171	0.94218	0.0:1.0:0.0:0.0	.	406	Q6ZQY3	GADL1_HUMAN	Q	406	ENSP00000282538:E406Q;ENSP00000427059:E406Q	ENSP00000282538:E406Q	E	-	1	0	GADL1	30817419	0.999000	0.42202	1.000000	0.80357	0.893000	0.52053	4.279000	0.58953	2.571000	0.86741	0.585000	0.79938	GAA		0.468	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		51	87	0	0	0	1	0	51	87					G	30842415	C	G	30842415	3	3	486	1	0	0	0	0	1	0	0	0	6185	835	29	4	365	4	GADL1	3	30842415	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	14366871	30842415	167180015	7	39446											
C3orf64	285203	broad.mit.edu	37	chr3	69056865	69056865	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggagcaaaatacccaccGtttccttaggctgacagagc	9	11	0	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:69056865G>A	ENST00000383701.3	-	6	1161	c.419C>T	c.(418-420)aCg>aTg	p.T140M	EOGT_ENST00000295571.5_Splice_Site_p.T140M|EOGT_ENST00000540955.1_De_novo_Start_OutOfFrame|EOGT_ENST00000540764.1_Splice_Site_p.T39M	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	140					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										AATACCCACCGTTTCCTTAGG	0.403																																						ENST00000540955.1																			0													EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							106	105	105					3																	69056865		2203	4300	6503	SO:0001630	splice_region_variant	285203							g.chr3:69056865G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"AER61 glycosyltransferase"	614789	"chromosome 3 open reading frame 64"	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.420+1C>T	3.37:g.69056865G>A						EOGT_ENST00000540764.1_Splice_Site_p.T39_splice|EOGT_ENST00000383701.3_Splice_Site_p.T140_splice|EOGT_ENST00000295571.5_Splice_Site_p.T140_splice								0	850	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Translation_Start_Site	SNP	ENST00000383701.3	37			.	.	.	.	.	.	.	.	.	.	G	10.72	1.430896	0.25726	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	.	.	.	5.09	-7.07	0.01563	.	0.854162	0.10818	N	0.630782	T	0.32585	0.0834	L	0.43152	1.355	0.24826	N	0.992551	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.14364	-1.0475	9	0.45353	T	0.12	.	8.785	0.34814	0.5818:0.0:0.2371:0.1811	.	140;140	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	140;140;39	.	ENSP00000295571:T140M	T	-	2	0	C3orf64	69139555	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.437000	0.02419	-1.889000	0.01112	-0.216000	0.12614	ACG		0.403	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654	Missense_Mutation	131	149	0	0	0	1	0	131	149					A	69056865	G	A	69056865	5	1	486	1	0	0	0	0	0	0	1	0	2240	1159	40	1	952	1	C3orf64	3	69056865	Splice_Site	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	38214450	69056865	128965565	8	39447											
NEK11	79858	broad.mit.edu	37	chr3	130992408	130992408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggaccaagatgaaaCgcatgagggagtaagtagca	14	7	0	3	rs144676044	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:130992408C>T	ENST00000510769.1	+	13	1646	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C|NEK11_ENST00000383366.4_Missense_Mutation_p.R570C|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C|NEK11_ENST00000510688.1_Intron					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CAAGATGAAACGCATGAGGGA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		20342	0.002		0.0	False		,,,				2504	0.0					ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1708-1710)Cgc>Tgc		NIMA-related kinase 11		C	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	146	109	122		,1708	2.7	0	3	dbSNP_134	122	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense	NEK11	NM_001146003.1,NM_024800.4	,180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,probably-damaging	,570/646	130992408	4,13002	2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130992408C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1393C>T	3.37:g.130992408C>T	ENSP00000421549:p.Arg465Cys					NEK11_ENST00000510688.1_Intron|NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C|NEK11_ENST00000510769.1_Missense_Mutation_p.R465C|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C	p.R570C	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			17	2001	+			570						Missense_Mutation	SNP	ENST00000510769.1	37	c.1708C>T		.	.	.	.	.	.	.	.	.	.	C	12.35	1.911280	0.33721	2.27E-4	3.49E-4	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.72725	-0.65;-0.45;-0.45;-0.68;-0.45	5.49	2.71	0.32032	.	1.183100	0.06321	N	0.704478	T	0.63534	0.2519	L	0.46157	1.445	0.09310	N	0.999999	B;B;B	0.18741	0.03;0.018;0.01	B;B;B	0.12156	0.007;0.003;0.003	T	0.48399	-0.9039	10	0.38643	T	0.18	.	6.8963	0.24257	0.1402:0.7146:0.0:0.1452	.	465;386;570	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	C	465;570;570;386;570	ENSP00000421549:R465C;ENSP00000397180:R570C;ENSP00000372857:R570C;ENSP00000411888:R386C;ENSP00000421851:R570C	ENSP00000372857:R570C	R	+	1	0	NEK11	132475098	0.018000	0.18449	0.001000	0.08648	0.350000	0.29205	1.886000	0.39688	0.286000	0.22352	-0.259000	0.10710	CGC		0.478	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		27	46	0	0	0	1	0	27	46					T	130992408	C	T	130992408	3	4	486	1	0	0	0	0	1	0	0	0	10323	536	19	1	1784	1	NEK11	3	130992408	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	61935543	130992408	67030022	9	39448											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670117	133670117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgagaaccaataaagCtgaagaaatgagcaggccta	12	6	0	5			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:133670117C>A	ENST00000310926.4	-	6	1069	c.796G>T	c.(796-798)Gct>Tct	p.A266S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	266					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)	ACCAATAAAGCTGAAGAAATG	0.498																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(796-798)Gct>Tct		solute carrier organic anion transporter family, member 2A1							87	91	89					3																	133670117		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670117C>A		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.796G>T	3.37:g.133670117C>A	ENSP00000311291:p.Ala266Ser					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	p.A266S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1069	-			266					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.796G>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194816	0.38806	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.60548	0.18;0.18	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.299086	0.35870	N	0.002933	T	0.43322	0.1242	L	0.37697	1.125	0.09310	N	0.999998	P;P;B	0.44195	0.828;0.549;0.383	B;B;B	0.34038	0.167;0.13;0.174	T	0.40813	-0.9543	10	0.13853	T	0.58	.	17.826	0.88665	0.0:1.0:0.0:0.0	.	266;190;266	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	S	266;190	ENSP00000311291:A266S;ENSP00000418893:A190S	ENSP00000311291:A266S	A	-	1	0	SLCO2A1	135152807	0.329000	0.24696	0.164000	0.22755	0.257000	0.26127	3.713000	0.54882	2.203000	0.70933	0.514000	0.50259	GCT		0.498	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		69	78	1	0	3.07184e-27	1	3.07184e-27	69	78					A	133670117	C	A	133670117	3	1	486	1	0	0	0	0	1	0	0	0	14726	797	28	4	1171	4	SLCO2A1	3	133670117	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	2677709	133670117	64352313	10	39449											
MAN2B2	23324	broad.mit.edu	37	chr4	6578375	6578375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcccgcggccagcagcGccggttcatcgctgtggagc	16	15	1	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:6578375G>A	ENST00000285599.3	+	2	245	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627																																						ENST00000285599.3																			1	Substitution - Missense(1)	p.R70L(1)	lung(1)	breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(208-210)cGc>cAc		mannosidase, alpha, class 2B, member 2							64	66	65					4																	6578375		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6578375G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.209G>A	4.37:g.6578375G>A	ENSP00000285599:p.Arg70His					MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			2	245	+			70					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.209G>A	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.595301|1.595301	0.28445|0.28445	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.25414	.|1.8;1.8	3.89|3.89	2.14|2.14	0.27477|0.27477	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32376|0.32376	0.0827|0.0827	M|M	0.84326|0.84326	2.69|2.69	0.48696|0.48696	D|D	0.999694|0.999694	.|B;B;P	.|0.37398	.|0.424;0.424;0.593	.|B;B;B	.|0.39465	.|0.265;0.209;0.3	T|T	0.07986|0.07986	-1.0744|-1.0744	5|10	.|0.59425	.|D	.|0.04	.|.	8.6005|8.6005	0.33742|0.33742	0.1982:0.0:0.8018:0.0|0.1982:0.0:0.8018:0.0	.|.	.|70;70;70	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	T|H	69|70	.|ENSP00000285599:R70H;ENSP00000423129:R70H	.|ENSP00000285599:R70H	A|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6629276|6629276	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.088000|0.088000	0.18126|0.18126	4.429000|4.429000	0.59901|0.59901	0.135000|0.135000	0.18707|0.18707	-0.263000|-0.263000	0.10527|0.10527	GCC|CGC		0.627	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		48	172	0	0	0	1	0	48	172					A	6578375	G	A	6578375	3	1	486	1	0	0	0	0	1	0	0	0	9217	1087	38	1	215	1	MAN2B2	4	6578375	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		6578375	184575901	11	39450											
REST	5978	broad.mit.edu	37	chr4	57796227	57796227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactatgcagcttccaagaaGtgtaatctacagtatcactt	7	9	2	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:57796227G>A	ENST00000309042.7	+	4	1517	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	401	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTTCCAAGAAGTGTAATCTAC	0.378																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1201-1203)aaG>aaA		RE1-silencing transcription factor							156	153	154					4																	57796227		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796227G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1203G>A	4.37:g.57796227G>A							p.K401K	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1517	+	Glioma(25;0.08)|all_neural(26;0.181)		401			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.1203G>A	CCDS3509.1																																																																																				0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		13	420	0	0	0	1	0	13	420					A	57796227	G	A	57796227	2	1	486	1	0	0	0	0	0	0	0	1	13234	1020	36	2		2	REST	4	57796227	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	51217852	57796227	133358049	12	39451											
UGT2A3	79799	broad.mit.edu	37	chr4	69796351	69796351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctacagctgctcctttgGccttcatgtgagctatgtta	8	10	2	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:69796351G>A	ENST00000251566.4	-	5	1247	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	406					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCCTTTGGCCTTCATGTG	0.428																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1216-1218)gCc>gTc		UDP glucuronosyltransferase 2 family, polypeptide A3							123	126	125					4																	69796351		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69796351G>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"UDP glucuronosyltransferases"	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1217C>T	4.37:g.69796351G>A	ENSP00000251566:p.Ala406Val					UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	p.A406V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			5	1247	-			406					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1217C>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490351	0.44249	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.62639	0.01;3.22	1.99	1.99	0.26369	.	0.208149	0.40728	N	0.001040	T	0.73908	0.3647	M	0.73319	2.225	0.28919	N	0.892254	D	0.89917	1.0	D	0.91635	0.999	T	0.66945	-0.5795	10	0.66056	D	0.02	.	9.5666	0.39402	0.0:0.0:1.0:0.0	.	406	Q6UWM9	UD2A3_HUMAN	V	406;117	ENSP00000251566:A406V;ENSP00000440115:A117V	ENSP00000251566:A406V	A	-	2	0	UGT2A3	69830940	0.003000	0.15002	0.994000	0.49952	0.630000	0.37929	1.243000	0.32767	1.094000	0.41399	0.491000	0.48974	GCC		0.428	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		26	305	0	0	0	1	0	26	305					A	69796351	G	A	69796351	3	1	486	1	0	0	0	0	1	0	0	0	16952	1203	42	2	374	2	UGT2A3	4	69796351	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	12000124	69796351	121357925	13	39452											
GK2	2712	broad.mit.edu	37	chr4	80329160	80329160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgttctcgctatacactcGtagacagactgaagaatttc	7	11	1	4			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:80329160G>A	ENST00000358842.3	-	1	212	c.195C>T	c.(193-195)taC>taT	p.Y65Y		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)	p.Y65Y(1)		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						CTATACACTCGTAGACAGACT	0.408																																						ENST00000358842.3																			1	Substitution - coding silent(1)	p.Y65Y(1)	large_intestine(1)	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						c.(193-195)taC>taT		glycerol kinase 2							179	175	176					4																	80329160		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80329160G>A	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.195C>T	4.37:g.80329160G>A							p.Y65Y	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	212	-			65					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.195C>T	CCDS3585.1																																																																																				0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		7	336	0	0	0	1	0	7	336					A	80329160	G	A	80329160	2	1	486	1	0	0	0	0	0	0	0	1	6421	1140	40	1		1	GK2	4	80329160	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	10532809	80329160	110825116	14	39453											
ODZ3	55714	broad.mit.edu	37	chr4	183714762	183714762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtagcaatgggcttatgCtgaaacagattcagtacact	9	8	2	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:183714762C>T	ENST00000511685.1	+	26	7060	c.6937C>T	c.(6937-6939)Ctg>Ttg	p.L2313L	TENM3_ENST00000406950.2_Silent_p.L2313L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2313					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGGCTTATGCTGAAACAGAT	0.418																																						ENST00000511685.1																			0											c.(6937-6939)Ctg>Ttg		teneurin transmembrane protein 3							101	101	101					4																	183714762		1911	4125	6036	SO:0001819	synonymous_variant	55714							g.chr4:183714762C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6937C>T	4.37:g.183714762C>T						TENM3_ENST00000406950.2_Silent_p.L2313L	p.L2313L							26	7060	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.6937C>T	CCDS47165.1																																																																																				0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	84	0	0	0	1	0	5	84					T	183714762	C	T	183714762	2	4	486	1	0	0	0	0	0	0	0	1	10836	796	28	2		2	ODZ3	4	183714762	Silent	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	103385602	183714762	7439514	15	39454											
C5orf44	80006	broad.mit.edu	37	chr5	64948338	64948338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaaccaggttctcaaacCattggatgtgaaaaccaaat	6	8	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:64948338C>T	ENST00000399438.3	+	7	857	c.512C>T	c.(511-513)cCa>cTa	p.P171L	TRAPPC13_ENST00000231526.4_Missense_Mutation_p.P171L|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.P171L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	171																	GTTCTCAAACCATTGGATGTG	0.289																																						ENST00000399438.3																			0											c.(511-513)cCa>cTa		trafficking protein particle complex 13							102	102	102					5																	64948338		1812	4069	5881	SO:0001583	missense	80006							g.chr5:64948338C>T		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.512C>T	5.37:g.64948338C>T	ENSP00000382367:p.Pro171Leu					TRAPPC13_ENST00000505553.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.P171L|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.P171L|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.P171L	p.P171L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2					7	857	+								Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	ENST00000399438.3	37	c.512C>T	CCDS47222.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036114	0.93630	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	M	0.87456	2.885	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	0.87132	0.2197	9	0.87932	D	0	-15.0716	19.6798	0.95958	0.0:1.0:0.0:0.0	.	171;171;171;171	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	L	171	.	ENSP00000231526:P171L	P	+	2	0	C5orf44	64984094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.642000	0.89623	0.467000	0.42956	CCA		0.289	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		31	95	0	0	0	1	0	31	95					T	64948338	C	T	64948338	3	4	486	1	0	0	0	0	1	0	0	0	2303	594	21	2	538	2	C5orf44	5	64948338	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08		64948338	115966922	16	39455											
GPR98	84059	broad.mit.edu	37	chr5	89949350	89949350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttacaacagcacatgcggcGtcaccacagtggaacggatg	11	11	1	0	rs373945216		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:89949350G>A	ENST00000405460.2	+	20	4055	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1320				R -> G (in Ref. 2; AAL30811). {ECO:0000305}.	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)		CACATGCGGCGTCACCACAGT	0.463																																						ENST00000405460.2																			0				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						c.(3958-3960)cGt>cAt		G protein-coupled receptor 98		A	HIS/ARG	1,3919		0,1,1959	121	111	114		3959	1.6	0.9	5		114	0,8270		0,0,4135	no	missense	GPR98	NM_032119.3	29	0,1,6094	AA,AG,GG		0.0,0.0255,0.0082	benign	1320/6307	89949350	1,12189	1960	4135	6095	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89949350G>A	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.3959G>A	5.37:g.89949350G>A	ENSP00000384582:p.Arg1320His						p.R1320H	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	4055	+		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)	1320	R -> G (in Ref. 2; AAL30811).				O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3959G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	g	8.538	0.872618	0.17322	2.55E-4	0.0	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.02158	4.42	5.38	1.62	0.23740	Concanavalin A-like lectin/glucanase (1);	0.095409	0.64402	N	0.000001	T	0.02533	0.0077	L	0.41236	1.265	0.80722	D	1	B	0.22541	0.071	B	0.19391	0.025	T	0.51411	-0.8709	10	0.49607	T	0.09	.	10.96	0.47379	0.2523:0.0:0.7477:0.0	.	1320	Q8WXG9	GPR98_HUMAN	H	1320	ENSP00000384582:R1320H	ENSP00000296619:R1320H	R	+	2	0	GPR98	89985106	0.998000	0.40836	0.878000	0.34440	0.029000	0.11900	3.230000	0.51286	0.081000	0.16988	-1.658000	0.00752	CGT		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		33	61	0	0	0	1	0	33	61					A	89949350	G	A	89949350	3	1	486	1	0	0	0	0	1	0	0	0	6721	1145	40	1	4037	1	GPR98	5	89949350	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	25001012	89949350	90965910	17	39456											
MEGF10	84466	broad.mit.edu	37	chr5	126758455	126758455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattgccgctgcctccccGgatggtcaggtgagagccaa	13	14	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:126758455G>A	ENST00000274473.6	+	14	1951	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R|MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	562	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCCTCCCCGGATGGTCAGG	0.572																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1684-1686)Gga>Aga		multiple EGF-like-domains 10							27	26	26					5																	126758455		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126758455G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1684G>A	5.37:g.126758455G>A	ENSP00000274473:p.Gly562Arg					MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R|MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R	p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	14	1951	+		Prostate(80;0.165)	562			EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1684G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225569	0.95173	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	D;T;T;D	0.88277	-2.36;-0.7;-0.7;-2.36	5.28	5.28	0.74379	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97473	0.9173	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98985	1.0806	10	0.66056	D	0.02	-9.6306	19.2744	0.94026	0.0:0.0:1.0:0.0	.	562;562	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	562	ENSP00000423354:G562R;ENSP00000423195:G562R;ENSP00000416284:G562R;ENSP00000274473:G562R	ENSP00000274473:G562R	G	+	1	0	MEGF10	126786354	1.000000	0.71417	0.961000	0.40146	0.972000	0.66771	9.837000	0.99465	2.636000	0.89361	0.650000	0.86243	GGA		0.572	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		28	32	0	0	0	1	0	28	32					A	126758455	G	A	126758455	3	1	486	1	0	0	0	0	1	0	0	0	9460	1117	39	1	1730	1	MEGF10	5	126758455	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	36809105	126758455	54156805	18	39457											
TFAP2A	7020	broad.mit.edu	37	chr6	10398786	10398786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagggccgtgaccgcgGcacacaccgcggggctgccg	16	16	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:10398786G>A	ENST00000482890.1	-	8	1530	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379613.3_Missense_Mutation_p.A395V|TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	393	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|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 neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|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 (GO:0000982)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGTGACCGCGGCACACACCGC	0.627																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1183-1185)gCc>gTc		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							167	182	177					6																	10398786		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10398786G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1178C>T	6.37:g.10398786G>A	ENSP00000418541:p.Ala393Val					TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000482890.1_Missense_Mutation_p.A393V|TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V	p.A395V			P05549	AP2A_HUMAN			7	1440	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	393			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.1184C>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422711	0.83559	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.23	5.23	0.72850	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;0.99;1.0	D;P;D	0.91635	0.992;0.891;0.999	D	0.99790	1.1031	10	0.87932	D	0	-8.7272	18.824	0.92109	0.0:0.0:1.0:0.0	.	389;393;387	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	V	395;393;389;387;393	ENSP00000368933:A395V;ENSP00000368924:A393V;ENSP00000316516:A389V;ENSP00000368928:A387V;ENSP00000418541:A393V	ENSP00000316516:A389V	A	-	2	0	TFAP2A	10506772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.863000	0.99569	2.438000	0.82558	0.655000	0.94253	GCC		0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		5	625	0	0	0	1	0	5	625					A	10398786	G	A	10398786	3	1	486	1	0	0	0	0	1	0	0	0	15784	1203	42	2	139	2	TFAP2A	6	10398786	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		10398786	160716281	19	39458											
HLA-DQA1	3117	broad.mit.edu	37	chr6	32609784	32609784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttttccaagtctcccGtgacactgggtcagcccaac	9	14	2	1	rs368821483		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:32609784G>A	ENST00000343139.5	+	3	469	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				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						CAAGTCTCCCGTGACACTGGG	0.502																																						ENST00000343139.5																			0				NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(367-369)Gtg>Atg		major histocompatibility complex, class II, DQ alpha 1		G	MET/VAL	0,3020		0,0,1510	150	114	127		367	2.3	0	6		127	1,5417		0,1,2708	no	missense	HLA-DQA1	NM_002122.3	21	0,1,4218	AA,AG,GG		0.0185,0.0,0.0119	benign	123/256	32609784	1,8437	1510	2709	4219	SO:0001583	missense	3117				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32609784G>A		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.367G>A	6.37:g.32609784G>A	ENSP00000339398:p.Val123Met					HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M	p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN			3	469	+			122			Alpha-2.|Ig-like C1-type.		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	ENST00000343139.5	37	c.367G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	5.827	0.336813	0.11013	0.0	1.85E-4	ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	4.1	2.29	0.28610	.	0.077621	0.51477	N	0.000100	T	0.02230	0.0069	M	0.84219	2.685	0.29971	N	0.818569	P;B	0.40083	0.702;0.123	B;B	0.35688	0.208;0.036	T	0.30563	-0.9974	10	0.59425	D	0.04	.	6.8041	0.23768	0.0961:0.0:0.7292:0.1747	.	129;123	Q59F33;G4XQK2	.;.	M	123	ENSP00000339398:V123M;ENSP00000378767:V123M;ENSP00000437302:V123M;ENSP00000364087:V123M	ENSP00000339398:V123M	V	+	1	0	HLA-DQA1	32717762	0.999000	0.42202	0.046000	0.18839	0.075000	0.17131	3.442000	0.52900	0.497000	0.27926	0.655000	0.94253	GTG		0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		16	81	0	0	0	1	0	16	81					A	32609784	G	A	32609784	3	1	486	1	0	0	0	0	1	0	0	0	7204	1145	40	1	377	1	HLA-DQA1	6	32609784	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	22210998	32609784	138505283	20	39459											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	72	0	0	0	1	0	5	72					A	45390463	G	A	45390463	2	1	486	1	0	0	0	0	0	0	0	1	13748	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	12780679	45390463	125724604	21	39460											
FBXO30	84085	broad.mit.edu	37	chr6	146125579	146125579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcagtatgaccatgcCacgagactgaagcaggctgc	11	13	0	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:146125579C>T	ENST00000237281.4	-	2	2129	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	655							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGACCATGCCACGAGACTGA	0.438																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1963-1965)Ggc>Agc		F-box protein 30							147	139	142					6																	146125579		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146125579C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1963G>A	6.37:g.146125579C>T	ENSP00000237281:p.Gly655Ser						p.G655S	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	2129	-		Ovarian(120;0.0776)	655					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1963G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348433	0.82132	.	.	ENSG00000118496	ENST00000237281	T	0.28069	1.63	5.86	5.86	0.93980	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55036	-0.8203	10	0.87932	D	0	-21.4082	20.1784	0.98192	0.0:1.0:0.0:0.0	.	655	Q8TB52	FBX30_HUMAN	S	655	ENSP00000237281:G655S	ENSP00000237281:G655S	G	-	1	0	FBXO30	146167272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.811000	0.86092	2.771000	0.95319	0.643000	0.83706	GGC		0.438	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			6	160	0	0	0	1	0	6	160					T	146125579	C	T	146125579	3	4	486	1	0	0	0	0	1	0	0	0	5740	594	21	2	282	2	FBXO30	6	146125579	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	100735116	146125579	24989488	22	39461											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1	rs377381152		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					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)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	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.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		4	224	0	0	0	1	0	4	224					A	150715311	G	A	150715311	3	1	486	1	0	0	0	0	1	0	0	0	7932	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4589732	150715311	20399756	23	39462											
ZNF117	51351	broad.mit.edu	37	chr7	64439187	64439187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcggttaaaagctttgccGcattcttcacattcataacg	7	10	3	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:64439187G>A	ENST00000282869.6	-	4	2046	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	254					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(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAGCTTTGCCGCATTCTTCAC	0.368																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(760-762)tgC>tgT		zinc finger protein 117							63	67	66					7																	64439187		2198	4299	6497	SO:0001819	synonymous_variant	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439187G>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.762C>T	7.37:g.64439187G>A							p.C254C	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2046	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	254					Q02313|Q7Z7Q7	Silent	SNP	ENST00000282869.6	37	c.762C>T	CCDS43593.1																																																																																				0.368	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		4	190	0	0	0	1	0	4	190					A	64439187	G	A	64439187	2	1	486	1	0	0	0	0	0	0	0	1	17714	1079	38	1		1	ZNF117	7	64439187	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		64439187	94699476	24	39463											
COPS6	10980	broad.mit.edu	37	chr7	99688278	99688281	+	Splice_Site	DEL	GTGA	GTGA	-													ctatgaccaagcacacagatGtgagtaatactccatgccta							TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:99688278_99688281delGTGA	ENST00000303904.3	+	5	523		c.e5+1		MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Splice_Site	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6						cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCACACAGATGTGAGTAATACTCC	0.49																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.e5+1		COP9 signalosome subunit 6																																				SO:0001630	splice_region_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99688278_99688281delGTGA	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.486+1GTGA>-	7.37:g.99688278_99688281delGTGA						COPS6_ENST00000418625.1_Splice_Site		NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	523	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A4D2A3|O15387	Splice_Site	DEL	ENST00000303904.3	37		CCDS5682.1																																																																																				0.49	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	Intron	57	96						57	96	---	---	---	---	-	99688281	GTGA	-	99688278	8	5	486	1	0	1	0	1	0	0	1	0	3737	1391	48	0	505	0	COPS6	7	99688278	Splice_Site	DEL	GTGA	TCGA-TQ-A7RN-01A-11D-A33T-08	35249091	99688278	59450385	25	39464											
FAM71F1	84691	broad.mit.edu	37	chr7	128370052	128370052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggaaagagagaacccctCcggcctgcagcccctctcac	11	16	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:128370052C>T	ENST00000315184.5	+	6	1003	c.950C>T	c.(949-951)tCc>tTc	p.S317F	FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGAACCCCTCCGGCCTGCAG	0.592																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(949-951)tCc>tTc		family with sequence similarity 71, member F1							99	95	97					7																	128370052		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128370052C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.950C>T	7.37:g.128370052C>T	ENSP00000326652:p.Ser317Phe					FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	p.S317F	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			6	1003	+			317					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.950C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462228	0.63513	.	.	ENSG00000135248	ENST00000485070;ENST00000315184	T;T	0.27720	1.65;2.99	4.57	4.57	0.56435	.	0.000000	0.43579	D	0.000549	T	0.50034	0.1592	M	0.65975	2.015	0.29893	N	0.825014	D;D;D	0.69078	0.997;0.994;0.997	D;P;D	0.65010	0.931;0.855;0.916	T	0.52419	-0.8578	10	0.87932	D	0	-8.6553	12.735	0.57218	0.0:1.0:0.0:0.0	.	315;317;216	Q96KD3-2;Q96KD3;Q8NA48	.;F71F1_HUMAN;.	F	216;317	ENSP00000418192:S216F;ENSP00000326652:S317F	ENSP00000326652:S317F	S	+	2	0	FAM71F1	128157288	0.973000	0.33851	0.378000	0.26068	0.799000	0.45148	3.243000	0.51392	2.364000	0.80123	0.655000	0.94253	TCC		0.592	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		8	255	0	0	0	1	0	8	255					T	128370052	C	T	128370052	3	4	486	1	0	0	0	0	1	0	0	0	5612	855	30	2	972	2	FAM71F1	7	128370052	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	28681774	128370052	30768611	26	39465											
TTC26	79989	broad.mit.edu	37	chr7	138832962	138832962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctaatagggaataccttGcccttaatgtttatgtggcc	8	9	1	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:138832962G>A	ENST00000464848.1	+	7	636	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000478836.2_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	186					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GGAATACCTTGCCCTTAATGT	0.383																																						ENST00000464848.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						c.(556-558)Gcc>Acc		tetratricopeptide repeat domain 26							230	204	213					7																	138832962		2203	4300	6503	SO:0001583	missense	79989						binding	g.chr7:138832962G>A	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.556G>A	7.37:g.138832962G>A	ENSP00000419279:p.Ala186Thr					TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000495038.1_Intron	p.A186T			A0AVF1	TTC26_HUMAN			7	636	+			186					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	c.556G>A	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577303	0.96565	.	.	ENSG00000105948	ENST00000430935;ENST00000474035;ENST00000464848;ENST00000343187	T;T;T;T	0.75938	-0.98;-0.98;-0.98;1.17	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063428	0.64402	D	0.000006	D	0.90256	0.6953	M	0.93375	3.41	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.996;0.965;0.999	D	0.92325	0.5869	10	0.72032	D	0.01	.	19.3304	0.94283	0.0:0.0:1.0:0.0	.	155;186;186;155;186	F8W724;C9J2N7;A0AVF1;B7Z5M0;Q96CU4	.;.;TTC26_HUMAN;.;.	T	186;186;186;155	ENSP00000410655:A186T;ENSP00000443253:A186T;ENSP00000419279:A186T;ENSP00000339135:A155T	ENSP00000339135:A155T	A	+	1	0	TTC26	138483502	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.415000	0.97375	2.577000	0.86979	0.655000	0.94253	GCC		0.383	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926		25	277	0	0	0	1	0	25	277					A	138832962	G	A	138832962	3	1	486	1	0	0	0	0	1	0	0	0	16691	1319	46	2	582	2	TTC26	7	138832962	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	10462910	138832962	20305701	27	39466											
TAS2R60	338398	broad.mit.edu	37	chr7	143140842	143140842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtttctagctttccaGtgggacttcctgaatgctgc	10	11	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:143140842G>A	ENST00000332690.1	+	1	297	c.297G>A	c.(295-297)caG>caA	p.Q99Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	99					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)					TAGCTTTCCAGTGGGACTTCC	0.483																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(295-297)caG>caA		taste receptor, type 2, member 60							164	145	151					7																	143140842		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140842G>A	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.297G>A	7.37:g.143140842G>A						EPHA1-AS1_ENST00000429289.1_RNA	p.Q99Q	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	297	+	Melanoma(164;0.172)		99					A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.297G>A	CCDS5885.1																																																																																				0.483	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			85	216	0	0	0	1	0	85	216					A	143140842	G	A	143140842	2	1	486	1	0	0	0	0	0	0	0	1	15582	1020	36	2		2	TAS2R60	7	143140842	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4307880	143140842	15997821	28	39467											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	167						7	167	---	---	---	---	-	30945379	AAG	-	30945377	7	5	486	1	0	1	0	1	0	0	0	0	17399	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RN-01A-11D-A33T-08		30945377	115418645	29	39468											
RLN2	6019	broad.mit.edu	37	chr9	5304440	5304440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccaggtgctcatgccGcaaatggcaatctgcgcgcg	12	13	2	0	rs544671340		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(139-141)tgC>tgT		relaxin 2							41	42	42					9																	5304440		2203	4297	6500	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304440G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A						RLN2_ENST00000308420.3_Silent_p.C47C	p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	529	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	47					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.141C>T	CCDS6460.1																																																																																				0.552	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		4	120	0	0	0	1	0	4	120					A	5304440	G	A	5304440	2	1	486	1	0	0	0	0	0	0	0	1	13392	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		5304440	135908991	30	39469											
C5	727	broad.mit.edu	37	chr9	123732466	123732466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accttcaatatcctgagtatCgattttcaaataaaagctgc	5	9	2	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:123732466C>T	ENST00000223642.1	-	32	4173	c.4144G>A	c.(4144-4146)Gat>Aat	p.D1382N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1382					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)	TCCTGAGTATCGATTTTCAAA	0.338																																						ENST00000223642.1																			0				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						c.(4144-4146)Gat>Aat		complement component 5	Eculizumab(DB01257)						111	103	106					9																	123732466		2202	4300	6502	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123732466C>T	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.4144G>A	9.37:g.123732466C>T	ENSP00000223642:p.Asp1382Asn						p.D1382N	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	32	4173	-			1382					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4144G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175630	0.38413	.	.	ENSG00000106804	ENST00000223642	T	0.29655	1.56	5.42	5.42	0.78866	Alpha-macroglobulin, receptor-binding (2);	0.345140	0.33309	N	0.005044	T	0.25158	0.0611	L	0.43152	1.355	0.37185	D	0.903696	P	0.37158	0.585	B	0.25140	0.058	T	0.24728	-1.0152	10	0.52906	T	0.07	.	15.9314	0.79663	0.0:1.0:0.0:0.0	.	1382	P01031	CO5_HUMAN	N	1382	ENSP00000223642:D1382N	ENSP00000223642:D1382N	D	-	1	0	C5	122772287	0.972000	0.33761	0.947000	0.38551	0.367000	0.29736	2.123000	0.41996	2.540000	0.85666	0.655000	0.94253	GAT		0.338	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		36	47	0	0	0	1	0	36	47					T	123732466	C	T	123732466	3	4	486	1	0	0	0	0	1	0	0	0	2280	884	31	1	926	1	C5	9	123732466	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	118428026	123732466	17480965	31	39470											
CCNY	219771	broad.mit.edu	37	chr10	35841995	35841995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagatagatatctgtccgGccaactggaagcggattgtt	12	8	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:35841995G>A	ENST00000374704.4	+	8	808	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000339497.5_Missense_Mutation_p.A185T|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	210	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.A156T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TATCTGTCCGGCCAACTGGAA	0.473																																						ENST00000374704.4																			1	Substitution - Missense(1)	p.A156T(1)	lung(1)	cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(628-630)Gcc>Acc		cyclin Y							133	133	133					10																	35841995		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35841995G>A	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.628G>A	10.37:g.35841995G>A	ENSP00000363836:p.Ala210Thr					CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Missense_Mutation_p.A185T	p.A210T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			8	808	+			210			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.628G>A	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153156	0.21371	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.219970	0.47455	D	0.000240	T	0.69575	0.3126	N	0.01686	-0.76	0.53005	D	0.999966	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.13407	0.002;0.005;0.009	T	0.68727	-0.5332	10	0.02654	T	1	-0.3774	19.3632	0.94451	0.0:0.0:1.0:0.0	.	77;185;210	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	T	156;210;210;185;156;77	ENSP00000363838:A156T;ENSP00000363836:A210T;ENSP00000344275:A185T;ENSP00000265375:A156T	ENSP00000265375:A156T	A	+	1	0	CCNY	35882001	0.998000	0.40836	0.933000	0.37362	0.988000	0.76386	4.009000	0.57110	2.652000	0.90054	0.655000	0.94253	GCC		0.473	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		4	218	0	0	0	1	0	4	218					A	35841995	G	A	35841995	3	1	486	1	0	0	0	0	1	0	0	0	2936	1203	42	2	658	2	CCNY	10	35841995	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		35841995	99692752	32	39471											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagcagcggcagtgGcagcagcagcagccacagct	14	15	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:81052021G>A	ENST00000334512.5	+	11	1437	c.865G>A	c.(865-867)Gca>Aca	p.A289T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	289	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.652																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(865-867)Gca>Aca		zinc finger, MIZ-type containing 1							38	43	42					10																	81052021		1776	3591	5367	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052021G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.865G>A	10.37:g.81052021G>A	ENSP00000334474:p.Ala289Thr					ZMIZ1_ENST00000478357.1_3'UTR	p.A289T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1437	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		289			Ala-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.865G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302503	0.95601	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.38887	1.11	5.16	5.16	0.70880	.	0.000000	0.39544	U	0.001340	T	0.64068	0.2565	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.81914	0.995;0.936	T	0.65170	-0.6233	10	0.51188	T	0.08	-6.8539	18.2632	0.90043	0.0:0.0:1.0:0.0	.	199;289	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	289;219;195	ENSP00000334474:A289T	ENSP00000334474:A289T	A	+	1	0	ZMIZ1	80722027	1.000000	0.71417	0.986000	0.45419	0.804000	0.45430	3.249000	0.51437	2.399000	0.81585	0.563000	0.77884	GCA		0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		44	123	0	0	0	1	0	44	123					A	81052021	G	A	81052021	3	1	486	1	0	0	0	0	1	0	0	0	17693	1203	42	2	891	2	ZMIZ1	10	81052021	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	45210026	81052021	54482726	33	39472											
OR5L1	219437	broad.mit.edu	37	chr11	55579457	55579457	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatccccttctatagatctaAtgtgattaaccactttttct	4	10	3	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:55579457A>T	ENST00000333973.2	+	1	604	c.515A>T	c.(514-516)aAt>aTt	p.N172I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172						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)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATAGATCTAATGTGATTAAC	0.458																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(514-516)aAt>aTt		olfactory receptor, family 5, subfamily L, member 1							230	211	217					11																	55579457		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579457A>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.515A>T	11.37:g.55579457A>T	ENSP00000335529:p.Asn172Ile						p.N172I	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	604	+		all_epithelial(135;0.208)	172					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.515A>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	a	17.02	3.283259	0.59867	.	.	ENSG00000186117	ENST00000333973	T	0.00262	8.4	4.12	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.109140	0.41001	D	0.000980	T	0.00552	0.0018	M	0.92833	3.35	0.09310	N	1	D	0.57257	0.979	D	0.67103	0.949	T	0.34179	-0.9839	10	0.87932	D	0	-31.0195	3.8746	0.09051	0.7081:0.0:0.104:0.1879	.	172	Q8NGL2	OR5L1_HUMAN	I	172	ENSP00000335529:N172I	ENSP00000335529:N172I	N	+	2	0	OR5L1	55336033	0.000000	0.05858	0.005000	0.12908	0.622000	0.37654	0.866000	0.27954	1.529000	0.49120	0.352000	0.21897	AAT		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		197	262	0	0	0	1	0	197	262					T	55579457	A	T	55579457	3	4	486	1	0	0	0	0	1	0	0	0	11170	101	4	5	517	5	OR5L1	11	55579457	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		55579457	79427059	34	39473											
MS4A8B	83661	broad.mit.edu	37	chr11	60482560	60482560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtttggcatcgcatgcGcatcttcccactttggctgc	11	12	1	0	rs201465289		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:60482560G>A	ENST00000300226.2	+	6	804	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	201						integral component of membrane (GO:0016021)											CATCGCATGCGCATCTTCCCA	0.562																																						ENST00000300226.2																			0											c.(601-603)Gca>Aca		membrane-spanning 4-domains, subfamily A, member 8							177	134	148					11																	60482560		2203	4300	6503	SO:0001583	missense	83661							g.chr11:60482560G>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.601G>A	11.37:g.60482560G>A	ENSP00000300226:p.Ala201Thr						p.A201T	NM_031457.1	NP_113645.1					6	804	+								Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.601G>A	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.73|11.73	1.724809|1.724809	0.30593|0.30593	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226|ENST00000529752	T|T	0.02323|0.15952	4.34|2.38	4.49|4.49	-8.6|-8.6	0.00889|0.00889	.|.	1.772610|.	0.02484|.	N|.	0.088792|.	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.48736|0.48736	-0.9009|-0.9009	10|7	0.25106|0.72032	T|D	0.35|0.01	-0.0046|-0.0046	9.7665|9.7665	0.40563|0.40563	0.2456:0.0:0.6272:0.1272|0.2456:0.0:0.6272:0.1272	.|.	201|.	Q9BY19|.	M4A8B_HUMAN|.	T|H	201|183	ENSP00000300226:A201T|ENSP00000436857:R183H	ENSP00000300226:A201T|ENSP00000436857:R183H	A|R	+|+	1|2	0|0	MS4A8B|MS4A8B	60239136|60239136	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.277000|-1.277000	0.02812|0.02812	-1.298000|-1.298000	0.02348|0.02348	-0.940000|-0.940000	0.02684|0.02684	GCA|CGC		0.562	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			5	382	0	0	0	1	0	5	382					A	60482560	G	A	60482560	3	1	486	1	0	0	0	0	1	0	0	0	9867	1087	38	1	619	1	MS4A8B	11	60482560	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4903103	60482560	74523956	35	39474											
LRP5	4041	broad.mit.edu	37	chr11	68153885	68153885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcaggtggacgacatcCggcacgccattgccatcgac	12	14	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:68153885C>T	ENST00000294304.7	+	6	1223	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	373	Beta-propeller 2.				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						GGACGACATCCGGCACGCCAT	0.657																																						ENST00000294304.7																			0				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						c.(1117-1119)Cgg>Tgg		low density lipoprotein receptor-related protein 5							103	73	83					11																	68153885		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153885C>T	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.1117C>T	11.37:g.68153885C>T	ENSP00000294304:p.Arg373Trp						p.R373W	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1223	+			373			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1117C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776835	0.70107	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	3.81	2.81	0.32909	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.44688	U	0.000427	D	0.94837	0.8332	M	0.89214	3.015	0.58432	D	0.999995	D	0.89917	1.0	D	0.74023	0.982	D	0.94496	0.7705	10	0.87932	D	0	.	9.3554	0.38164	0.4366:0.5634:0.0:0.0	.	373	O75197	LRP5_HUMAN	W	373	ENSP00000294304:R373W	ENSP00000294304:R373W	R	+	1	2	LRP5	67910461	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	2.824000	0.48088	2.177000	0.69029	0.449000	0.29647	CGG		0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	101	0	0	0	1	0	4	101					T	68153885	C	T	68153885	3	4	486	1	0	0	0	0	1	0	0	0	8960	643	23	1	1139	1	LRP5	11	68153885	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	7671325	68153885	66852631	36	39475											
NPAT	4863	broad.mit.edu	37	chr11	108032484	108032484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgatagcattattagaaGggggttttaaggtggaggac	14	2	0	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:108032484G>A	ENST00000278612.8	-	17	3434	c.3329C>T	c.(3328-3330)cCt>cTt	p.P1110L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1110					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)		ATTATTAGAAGGGGGTTTTAA	0.428																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3328-3330)cCt>cTt		nuclear protein, ataxia-telangiectasia locus							75	69	71					11																	108032484		1853	4089	5942	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032484G>A	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.3329C>T	11.37:g.108032484G>A	ENSP00000278612:p.Pro1110Leu						p.P1110L	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3434	-		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)	1110					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3329C>T	CCDS41710.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.30|14.30	2.494045|2.494045	0.44352|0.44352	.|.	.|.	ENSG00000149308|ENSG00000149308	ENST00000527296|ENST00000278612	.|T	.|0.03860	.|3.78	5.75|5.75	4.84|4.84	0.62591|0.62591	.|.	.|0.417742	.|0.20705	.|N	.|0.087185	T|T	0.07999|0.07999	0.0200|0.0200	L|L	0.57536|0.57536	1.79|1.79	0.40212|0.40212	D|D	0.977636|0.977636	.|B	.|0.23249	.|0.082	.|B	.|0.25140	.|0.058	T|T	0.06250|0.06250	-1.0837|-1.0837	5|10	.|0.62326	.|D	.|0.03	-4.1803|-4.1803	12.6601|12.6601	0.56809|0.56809	0.0798:0.0:0.9202:0.0|0.0798:0.0:0.9202:0.0	.|.	.|1110	.|Q14207	.|NPAT_HUMAN	F|L	109|1110	.|ENSP00000278612:P1110L	.|ENSP00000278612:P1110L	L|P	-|-	1|2	0|0	NPAT|NPAT	107537694|107537694	1.000000|1.000000	0.71417|0.71417	0.714000|0.714000	0.30535|0.30535	0.347000|0.347000	0.29111|0.29111	5.187000|5.187000	0.65087|0.65087	1.590000|1.590000	0.49995|0.49995	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.428	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		5	208	0	0	0	1	0	5	208					A	108032484	G	A	108032484	3	1	486	1	0	0	0	0	1	0	0	0	10566	1000	35	2	962	2	NPAT	11	108032484	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	39878599	108032484	26974032	37	39476											
ROBO3	64221	broad.mit.edu	37	chr11	124744124	124744124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgtctctgagcctgtccGtacacagggtaaggtcagag	12	13	2	2	rs201985175	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:124744124G>A	ENST00000397801.1	+	12	2135	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	648	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCCTGTCCGTACACAGGGT	0.557													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19368	0.0		0.001	False		,,,				2504	0.0					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1942-1944)cGt>cAt		roundabout, axon guidance receptor, homolog 3 (Drosophila)		G	HIS/ARG	1,4107		0,1,2053	37	41	40		1943	0.2	1	11		40	4,8366		0,4,4181	yes	missense	ROBO3	NM_022370.3	29	0,5,6234	AA,AG,GG		0.0478,0.0243,0.0401	possibly-damaging	648/1387	124744124	5,12473	2054	4185	6239	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124744124G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1943G>A	11.37:g.124744124G>A	ENSP00000380903:p.Arg648His					ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	p.R648H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	12	2135	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	648						Missense_Mutation	SNP	ENST00000397801.1	37	c.1943G>A	CCDS44755.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.68	2.905297	0.52333	2.43E-4	4.78E-4	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.82711	-1.64;-1.64	5.14	0.251	0.15540	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.589540	0.13441	N	0.387666	T	0.79233	0.4411	L	0.36672	1.1	0.80722	D	1	D	0.59357	0.985	P	0.53224	0.721	T	0.74940	-0.3493	10	0.72032	D	0.01	.	5.4017	0.16299	0.3243:0.0:0.5333:0.1424	.	648	Q96MS0	ROBO3_HUMAN	H	648;626	ENSP00000380903:R648H;ENSP00000441797:R626H	ENSP00000380903:R648H	R	+	2	0	ROBO3	124249334	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	3.211000	0.51137	0.167000	0.19631	0.655000	0.94253	CGT		0.557	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	100	0	0	0	1	0	4	100					A	124744124	G	A	124744124	3	1	486	1	0	0	0	0	1	0	0	0	13515	1145	40	1	1989	1	ROBO3	11	124744124	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	16711640	124744124	10262392	38	39477											
SRPR	6734	broad.mit.edu	37	chr11	126135266	126135266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcccggagcatgtctAcacgacgctgtggctgcaga	13	11	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:126135266A>G	ENST00000332118.6	-	10	1362	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	403					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GAGCATGTCTACACGACGCTG	0.572																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1207-1209)gTa>gCa		signal recognition particle receptor (docking protein)							63	60	61					11																	126135266		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135266A>G	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1208T>C	11.37:g.126135266A>G	ENSP00000328023:p.Val403Ala					SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	p.V403A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	10	1362	-	all_hematologic(175;0.145)		403					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1208T>C	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839306	0.91117	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.38	5.38	0.77491	.	0.125028	0.56097	D	0.000034	T	0.66268	0.2772	M	0.81341	2.54	0.80722	D	1	P;P	0.51791	0.948;0.897	P;P	0.47402	0.546;0.546	T	0.72408	-0.4303	9	0.59425	D	0.04	-10.4731	14.1136	0.65139	1.0:0.0:0.0:0.0	.	375;403	E9PJS4;P08240	.;SRPR_HUMAN	A	403;375	.	ENSP00000328023:V403A	V	-	2	0	SRPR	125640476	1.000000	0.71417	0.795000	0.32087	0.998000	0.95712	9.028000	0.93712	2.262000	0.75019	0.528000	0.53228	GTA		0.572	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		5	95	0	0	0	1	0	5	95					G	126135266	A	G	126135266	3	3	486	1	0	0	0	0	1	0	0	0	15161	391	14	3	728	3	SRPR	11	126135266	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08	1391142	126135266	8871250	39	39478											
CHD4	1108	broad.mit.edu	37	chr12	6701634	6701634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaacacatcggctttgAgccgccgcaacatgtgcggc	11	13	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:6701634A>C	ENST00000357008.2	-	19	3036	c.2873T>G	c.(2872-2874)cTc>cGc	p.L958R	CHD4_ENST00000544040.1_Missense_Mutation_p.L951R|CHD4_ENST00000309577.6_Missense_Mutation_p.L958R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					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)	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			2	Substitution - Missense(2)	p.L958H(2)	kidney(2)	central_nervous_system(2)	2						c.(2872-2874)cTc>cGc		chromodomain helicase DNA binding protein 4							83	83	83					12																	6701634		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701634A>C	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.2873T>G	12.37:g.6701634A>C	ENSP00000349508:p.Leu958Arg					CHD4_ENST00000357008.2_Missense_Mutation_p.L958R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R|CHD4_ENST00000544040.1_Missense_Mutation_p.L951R	p.L958R			Q14839	CHD4_HUMAN			19	3036	-			958					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2873T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852689	0.71719	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.997	D	0.95534	0.8606	10	0.87932	D	0	.	15.4307	0.75092	1.0:0.0:0.0:0.0	.	958;958;951	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	R	955;951;958;958;932	ENSP00000440392:L955R;ENSP00000440542:L951R;ENSP00000312419:L958R;ENSP00000349508:L958R	ENSP00000312419:L958R	L	-	2	0	CHD4	6571895	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	9.307000	0.96226	2.047000	0.60756	0.460000	0.39030	CTC		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		10	217	0	0	0	1	0	10	217					C	6701634	A	C	6701634	3	2	486	1	0	0	0	0	1	0	0	0	3327	304	11	5	2953	5	CHD4	12	6701634	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		6701634	127150261	40	39479											
COL4A2	1284	broad.mit.edu	37	chr13	111156557	111156557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgtctgctgttcccGgcttccggggagatgaagga	17	8	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:111156557G>A	ENST00000360467.5	+	45	4654	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1450	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)			TGCTGTTCCCGGCTTCCGGGG	0.597																																						ENST00000360467.5																			0				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						c.(4348-4350)Ggc>Agc		collagen, type IV, alpha 2							68	76	74					13																	111156557		1956	4151	6107	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156557G>A	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.4348G>A	13.37:g.111156557G>A	ENSP00000353654:p.Gly1450Ser					COL4A2-AS1_ENST00000417970.2_RNA	p.G1450S	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		45	4654	+	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)	1450			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4348G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154655	0.78114	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99607	-6.27	5.2	5.2	0.72013	.	0.000000	0.53938	D	0.000041	D	0.99792	0.9912	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96904	0.9662	10	0.87932	D	0	.	18.3673	0.90396	0.0:0.0:1.0:0.0	.	1450	P08572	CO4A2_HUMAN	S	1450	ENSP00000353654:G1450S	ENSP00000257309:G1450S	G	+	1	0	COL4A2	109954558	1.000000	0.71417	0.654000	0.29608	0.108000	0.19459	6.812000	0.75226	2.423000	0.82170	0.561000	0.74099	GGC		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	160	0	0	0	1	0	4	160					A	111156557	G	A	111156557	3	1	486	1	0	0	0	0	1	0	0	0	3690	1116	39	1	4522	1	COL4A2	13	111156557	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		111156557	4013321	41	39480											
C14orf50	145376	broad.mit.edu	37	chr14	65054839	65054839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaatgatggcaaaacGcccagcaattaaaaaagcta	9	8	0	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr14:65054839G>A	ENST00000298705.1	+	11	1004	c.908G>A	c.(907-909)cGc>cAc	p.R303H	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	303					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ATGGCAAAACGCCCAGCAATT	0.448																																						ENST00000298705.1																			0											c.(907-909)cGc>cAc		protein phosphatase 1, regulatory subunit 36							89	89	89					14																	65054839		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65054839G>A		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20097	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 50"	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.908G>A	14.37:g.65054839G>A	ENSP00000298705:p.Arg303His					RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	p.R303H	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN			11	1004	+			303					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.908G>A	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367222	0.61513	.	.	ENSG00000165807	ENST00000298705	T	0.32753	1.44	5.36	5.36	0.76844	.	0.091871	0.48286	D	0.000182	T	0.30572	0.0769	L	0.53729	1.69	0.39210	D	0.963299	P	0.52463	0.953	B	0.39935	0.314	T	0.31641	-0.9936	10	0.72032	D	0.01	-11.7713	14.5878	0.68339	0.0:0.0:1.0:0.0	.	303	Q96LQ0	PPR36_HUMAN	H	303	ENSP00000298705:R303H	ENSP00000298705:R303H	R	+	2	0	C14orf50	64124592	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.727000	0.61993	2.489000	0.83994	0.655000	0.94253	CGC		0.448	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		5	188	0	0	0	1	0	5	188					A	65054839	G	A	65054839	3	1	486	1	0	0	0	0	1	0	0	0	1777	1087	38	1	950	1	C14orf50	14	65054839	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		65054839	42294701	42	39481											
TMCO7	79613	broad.mit.edu	37	chr16	68941443	68941443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccactgccaggaatgcGgtttggcaggagacttcttc	12	11	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr16:68941443G>A	ENST00000261778.1	+	10	1777	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	589						integral component of membrane (GO:0016021)											CCAGGAATGCGGTTTGGCAGG	0.507																																						ENST00000261778.1																			0											c.(1765-1767)Ggt>Agt		transport and golgi organization 6 homolog (Drosophila)							87	84	85					16																	68941443		1888	4111	5999	SO:0001583	missense	79613							g.chr16:68941443G>A		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.1765G>A	16.37:g.68941443G>A	ENSP00000261778:p.Gly589Ser						p.G589S	NM_024562.1	NP_078838.1					10	1777	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.1765G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908361	0.92107	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.56	5.56	0.83823	Armadillo-type fold (1);	0.044902	0.85682	D	0.000000	T	0.76586	0.4008	M	0.69823	2.125	0.50313	D	0.999863	D	0.89917	1.0	D	0.91635	0.999	T	0.70547	-0.4842	9	0.15952	T	0.53	-18.5037	16.7947	0.85598	0.0:0.0:1.0:0.0	.	589	Q9C0B7	TMCO7_HUMAN	S	589	.	ENSP00000261778:G589S	G	+	1	0	TMCO7	67498944	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	4.730000	0.62015	2.778000	0.95560	0.655000	0.94253	GGT		0.507	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	64	0	0	0	1	0	3	64					A	68941443	G	A	68941443	3	1	486	1	0	0	0	0	1	0	0	0	15998	1116	39	1	1803	1	TMCO7	16	68941443	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		68941443	21413310	43	39482											
TP53	7157	broad.mit.edu	37	chr17	7577107	7577107	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccggtctctcccaggAcaggcacaaacacgcacctc	10	17	1	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:7577107A>C	ENST00000269305.4	-	8	1020	c.831T>G	c.(829-831)tgT>tgG	p.C277W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000445888.2_Missense_Mutation_p.C277W|TP53_ENST00000455263.2_Missense_Mutation_p.C277W|TP53_ENST00000420246.2_Missense_Mutation_p.C277W	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; 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.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(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)	CTCTCCCAGGACAGGCACAAA	0.547		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		38	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Insertion - Frameshift(2)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(6)|breast(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(2)|oesophagus(2)|lung(2)|biliary_tract(1)|large_intestine(1)|ovary(1)|prostate(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	GRCh37	CM065496	TP53	M		c.(829-831)tgT>tgG	Other conserved DNA damage response genes	tumor protein p53							72	62	65					17																	7577107		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577107A>C	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.831T>G	17.37:g.7577107A>C	ENSP00000269305:p.Cys277Trp	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)				TP53_ENST00000445888.2_Missense_Mutation_p.C277W|TP53_ENST00000269305.4_Missense_Mutation_p.C277W|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277W	p.C277W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	963	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.831T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529367	0.64860	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99876	-7.41;-7.41;-7.41;-7.41;-7.41;-7.41	5.13	1.53	0.23141	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99829	0.9923	M	0.91872	3.25	0.80722	D	1	P;D;D;P	0.89917	0.858;1.0;0.974;0.757	P;D;P;P	0.91635	0.689;0.999;0.839;0.648	D	0.98463	1.0597	10	0.87932	D	0	-10.0792	7.7422	0.28848	0.6581:0.0:0.3419:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	277;277;277;277;277;266;145	ENSP00000352610:C277W;ENSP00000269305:C277W;ENSP00000398846:C277W;ENSP00000391127:C277W;ENSP00000391478:C277W;ENSP00000425104:C145W	ENSP00000269305:C277W	C	-	3	2	TP53	7517832	0.987000	0.35691	1.000000	0.80357	0.977000	0.68977	0.281000	0.18810	0.383000	0.24910	0.379000	0.24179	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	27	0	0	0	1	0	28	27					C	7577107	A	C	7577107	3	2	486	1	0	0	0	0	1	0	0	0	16378	273	10	5	455	5	TP53	17	7577107	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		7577107	73618103	44	39483											
DNAH9	1770	broad.mit.edu	37	chr17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcatctatttcattgatgAcatgaacatgcctgaggtgg	9	8	3	4			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2546	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)		TTCATTGATGACATGAACATG	0.547																																						ENST00000262442.3																			0				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						c.(7636-7638)gAc>gGc		dynein, axonemal, heavy chain 9							64	54	58					17																	11684410		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684410A>G	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.7637A>G	17.37:g.11684410A>G	ENSP00000262442:p.Asp2546Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7705	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2546			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7637A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599729	0.87055	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);	0.135950	0.48286	D	0.000189	D	0.82674	0.5088	H	0.99689	4.705	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90686	0.4609	10	0.87932	D	0	.	15.1359	0.72566	1.0:0.0:0.0:0.0	.	2546	Q9NYC9	DYH9_HUMAN	G	2546;2546;1128	ENSP00000262442:D2546G;ENSP00000414874:D2546G	ENSP00000262442:D2546G	D	+	2	0	DNAH9	11625135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.244000	0.95423	2.043000	0.60533	0.519000	0.50382	GAC		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	75	0	0	0	1	0	3	75					G	11684410	A	G	11684410	3	3	486	1	0	0	0	0	1	0	0	0	4608	275	10	3	7791	3	DNAH9	17	11684410	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08	4107303	11684410	69510800	45	39484											
CACNA1G	8913	broad.mit.edu	37	chr17	48677187	48677187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgatgaccccccactGgatggggatgacgccgatga	14	13	0	4			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:48677187G>A	ENST00000359106.5	+	17	3657	c.3657G>A	c.(3655-3657)ctG>ctA	p.L1219L	CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000507336.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000352832.5_Silent_p.L1196L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000354983.4_Silent_p.L1196L|CACNA1G_ENST00000358244.5_Silent_p.L1196L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1219					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)			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)	ACCCCCCACTGGATGGGGATG	0.672																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3586-3588)ctG>ctA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						22	26	24					17																	48677187		1993	4143	6136	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677187G>A	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.3657G>A	17.37:g.48677187G>A						CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000359106.5_Silent_p.L1219L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000507336.1_Silent_p.L1219L|CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000358244.5_Silent_p.L1196L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000354983.4_Silent_p.L1196L	p.L1196L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3960	+	Breast(11;6.7e-17)		1219					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	Silent	SNP	ENST00000359106.5	37	c.3588G>A	CCDS45730.1																																																																																				0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		21	53	0	0	0	1	0	21	53					A	48677187	G	A	48677187	2	1	486	1	0	0	0	0	0	0	0	1	2544	1335	47	2		2	CACNA1G	17	48677187	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	36992777	48677187	32518023	46	39485											
POTED	317754	broad.mit.edu	37	chr21	15013750	15013750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatgctaagactggaaCtagatgaaacaaaacatcag	8	8	1	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:15013750C>A	ENST00000299443.5	+	11	1670	c.1618C>A	c.(1618-1620)Cta>Ata	p.L540I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	540						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AAGACTGGAACTAGATGAAAC	0.368																																						ENST00000299443.5																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(1618-1620)Cta>Ata		POTE ankyrin domain family, member D							31	44	40					21																	15013750		1422	3634	5056	SO:0001583	missense	317754					plasma membrane		g.chr21:15013750C>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1618C>A	21.37:g.15013750C>A	ENSP00000299443:p.Leu540Ile						p.L540I	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN			11	1670	+			540					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.1618C>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.179343	0.00308	.	.	ENSG00000166351	ENST00000299443	T	0.12361	2.69	2.1	-1.06	0.10002	.	.	.	.	.	T	0.04770	0.0129	N	0.04355	-0.22	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45264	-0.9273	9	0.07990	T	0.79	.	7.7804	0.29062	0.3437:0.6563:0.0:0.0	.	540	Q86YR6	POTED_HUMAN	I	540	ENSP00000299443:L540I	ENSP00000299443:L540I	L	+	1	2	POTED	13935621	0.989000	0.36119	0.017000	0.16124	0.001000	0.01503	0.586000	0.23894	0.079000	0.16929	-0.723000	0.03601	CTA		0.368	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		76	134	1	0	4.03997e-35	1	4.10213e-35	76	134					A	15013750	C	A	15013750	3	1	486	1	0	0	0	0	1	0	0	0	12263	564	20	4	1660	4	POTED	21	15013750	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08		15013750	33116145	47	39486											
CNKSR2	22866	broad.mit.edu	37	chrX	21627189	21627189	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggctcctttctacagAtgagttgcgccagtccttat	10	11	2	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:21627189A>G	ENST00000379510.3	+	20	2182	c.2146A>G	c.(2146-2148)Atg>Gtg	p.M716V	CNKSR2_ENST00000279451.4_Splice_Site_p.M716V|CNKSR2_ENST00000425654.2_Splice_Site_p.M686V|CNKSR2_ENST00000543067.1_Splice_Site_p.M667V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	716					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						CTTTCTACAGATGAGTTGCGC	0.453																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e19-1		connector enhancer of kinase suppressor of Ras 2							40	40	40					X																	21627189		2203	4300	6503	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627189A>G	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.2146-1A>G	X.37:g.21627189A>G						CNKSR2_ENST00000379510.3_Splice_Site_p.M716_splice|CNKSR2_ENST00000279451.4_Splice_Site_p.M716_splice|CNKSR2_ENST00000543067.1_Splice_Site_p.M667_splice	p.M686_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2536	+			716					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37	c.2055_splice	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	1.332	-0.596443	0.03771	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.16324	2.66;2.36;2.35;2.65	5.63	5.63	0.86233	.	0.043371	0.85682	D	0.000000	T	0.10078	0.0247	N	0.10874	0.06	0.44447	D	0.997371	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.21381	-1.0247	9	.	.	.	-4.1559	14.8033	0.69932	1.0:0.0:0.0:0.0	.	686;667;308;716	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	V	686;667;716;716	ENSP00000397906:M686V;ENSP00000444633:M667V;ENSP00000279451:M716V;ENSP00000368824:M716V	.	M	+	1	0	CNKSR2	21537110	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.247000	0.72411	1.877000	0.54381	0.481000	0.45027	ATG		0.453	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Missense_Mutation	11	43	0	0	0	1	0	11	43					G	21627189	A	G	21627189	5	3	486	1	0	0	0	0	0	0	1	0	3607	347	12	3	2224	3	CNKSR2	23	21627189	Splice_Site	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		21627189	133643371	48	39487											
HUWE1	10075	broad.mit.edu	37	chrX	53613509	53613509	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttcatagaaatcaatcaGgagcaacactggtgtgatcc	8	9	3	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:53613509G>A	ENST00000342160.3	-	38	5222	c.4765C>T	c.(4765-4767)Ctg>Ttg	p.L1589L	HUWE1_ENST00000262854.6_Silent_p.L1589L|HUWE1_ENST00000218328.8_Silent_p.L1589L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1589					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAATCAATCAGGAGCAACACT	0.383																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(4765-4767)Ctg>Ttg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							83	69	74					X																	53613509		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53613509G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4765C>T	X.37:g.53613509G>A						HUWE1_ENST00000262854.6_Silent_p.L1589L|HUWE1_ENST00000218328.8_Silent_p.L1589L	p.L1589L			Q7Z6Z7	HUWE1_HUMAN			38	5222	-			1589					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.4765C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	9.254	1.041580	0.19669	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.07	3.3	0.37823	.	.	.	.	.	T	0.57257	0.2041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49698	-0.8912	4	.	.	.	.	7.7037	0.28638	0.2748:0.0:0.7252:0.0	.	.	.	.	L	622	.	.	P	-	2	0	HUWE1	53630234	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	2.386000	0.44380	0.391000	0.25143	0.600000	0.82982	CCT		0.383	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	39	0	0	0	1	0	4	39					A	53613509	G	A	53613509	2	1	486	1	0	0	0	0	0	0	0	1	7461	991	35	2		2	HUWE1	23	53613509	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	31986320	53613509	101657051	49	39488											
ZMAT1	84460	broad.mit.edu	37	chrX	101138798	101138798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgatgtttctgtttaTgacctgcttgatggtcagca	9	8	4	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:101138798T>C	ENST00000372782.3	-	7	1648	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R	ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	534						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						TTTCTGTTTATGACCTGCTTG	0.388																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1600-1602)cAt>cGt		zinc finger, matrin-type 1							173	142	152					X																	101138798		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138798T>C	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.1601A>G	X.37:g.101138798T>C	ENSP00000361868:p.His534Arg					ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R	p.H534R	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1648	-			363					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1601A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	8.933	0.963924	0.18583	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23552	2.51;2.51;1.9	4.37	2.01	0.26516	.	0.872217	0.10150	N	0.709808	T	0.26195	0.0639	M	0.66939	2.045	0.19300	N	0.99997	B	0.10296	0.003	B	0.10450	0.005	T	0.29366	-1.0014	10	0.51188	T	0.08	-1.0672	5.6841	0.17792	0.0:0.3445:0.0:0.6555	.	534	Q5H9K5	ZMAT1_HUMAN	R	534;534;363	ENSP00000361868:H534R;ENSP00000437529:H534R;ENSP00000413044:H363R	ENSP00000361868:H534R	H	-	2	0	ZMAT1	101025454	0.991000	0.36638	0.170000	0.22879	0.935000	0.57460	1.380000	0.34351	0.294000	0.22547	0.486000	0.48141	CAT		0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			51	41	0	0	0	1	0	51	41					C	101138798	T	C	101138798	3	2	486	1	0	0	0	0	1	0	0	0	17688	1464	51	3	319	3	ZMAT1	23	101138798	Missense_Mutation	SNP	T	TCGA-TQ-A7RN-01A-11D-A33T-08	47525289	101138798	54131762	50	39489											
AQP10	89872	broad.mit.edu	37	chr1	154293680	154293680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgggccacctccggataCgcagcctcctggcccggcag	12	17	1	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:154293680C>T	ENST00000324978.3	+	1	89	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	AQP10_ENST00000484864.1_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	17					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCGGATACGCAGCCTCCT	0.567																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(49-51)Cgc>Tgc		aquaporin 10							58	56	56					1																	154293680		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154293680C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.49C>T	1.37:g.154293680C>T	ENSP00000318355:p.Arg17Cys					AQP10_ENST00000324978.3_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR	p.R17C			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	85	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		17					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.49C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225891	0.79576	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85861	-1.93;-2.04	5.09	5.09	0.68999	.	0.366954	0.24988	N	0.034002	D	0.88905	0.6564	M	0.74467	2.265	0.41006	D	0.984969	D;D	0.76494	0.998;0.999	P;D	0.63033	0.886;0.91	D	0.89973	0.4095	10	0.87932	D	0	.	12.3196	0.54977	0.1692:0.8308:0.0:0.0	.	17;17	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	C	17	ENSP00000318355:R17C;ENSP00000420341:R17C	ENSP00000318355:R17C	R	+	1	0	AQP10	152560304	0.291000	0.24352	0.991000	0.47740	0.967000	0.64934	2.932000	0.48940	2.648000	0.89879	0.505000	0.49811	CGC		0.567	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		34	106	0	0	0	1	0	34	106					T	154293680	C	T	154293680	3	4	487	1	0	0	0	0	1	0	0	0	822	536	19	1	51	1	AQP10	1	154293680	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		154293680	94956941	1	39490											
ABCB10	23456	broad.mit.edu	37	chr1	229676423	229676423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacatggtccactttgctgGcatatttctcgatttcagtc	7	10	2	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:229676423G>A	ENST00000344517.4	-	5	1175	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	378	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACTTTGCTGGCATATTTCTC	0.403																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1132-1134)gCc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 10							118	108	112					1																	229676423		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229676423G>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1133C>T	1.37:g.229676423G>A	ENSP00000355637:p.Ala378Val						p.A378V	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			5	1175	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	378			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1133C>T	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093012	0.20471	.	.	ENSG00000135776	ENST00000344517	D	0.89875	-2.58	5.27	3.33	0.38152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.808617	0.11822	N	0.526096	D	0.82467	0.5043	L	0.53671	1.685	0.09310	N	1	P	0.35272	0.493	B	0.27608	0.081	T	0.72994	-0.4122	10	0.41790	T	0.15	-7.4314	5.1325	0.14917	0.0748:0.2722:0.5128:0.1403	.	378	Q9NRK6	ABCBA_HUMAN	V	378	ENSP00000355637:A378V	ENSP00000355637:A378V	A	-	2	0	ABCB10	227743046	0.000000	0.05858	0.405000	0.26409	0.017000	0.09413	0.378000	0.20569	1.301000	0.44836	0.591000	0.81541	GCC		0.403	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		4	202	0	0	0	1	0	4	202					A	229676423	G	A	229676423	3	1	487	1	0	0	0	0	1	0	0	0	41	1203	42	2	1119	2	ABCB10	1	229676423	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	75382743	229676423	19574198	2	39491											
C1orf101	257044	broad.mit.edu	37	chr1	244756809	244756809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttttctagagagtaagGtatatttggggagaatatgg	12	3	1	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:244756809G>A	ENST00000366534.4	+	17	2286	c.2232G>A	c.(2230-2232)agG>agA	p.R744R	C1orf101_ENST00000366531.3_Silent_p.R593R|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.R744R	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	744						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-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(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGAGAGTAAGGTATATTTGGG	0.348																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(2230-2232)agG>agA		chromosome 1 open reading frame 101							79	82	81					1																	244756809		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244756809G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2232G>A	1.37:g.244756809G>A						C1orf101_ENST00000366533.4_Silent_p.R744R|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.R593R	p.R744R	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		17	2286	+	all_cancers(71;2.99e-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)		744					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.2232G>A	CCDS44340.1																																																																																				0.348	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		67	98	0	0	0	1	0	67	98					A	244756809	G	A	244756809	2	1	487	1	0	0	0	0	0	0	0	1	1976	1252	44	2		2	C1orf101	1	244756809	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	15080386	244756809	4493812	3	39492											
OR2L2	26246	broad.mit.edu	37	chr1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctccttgctgtctaccGcatgcactctgcagaaggga	11	12	3	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GCTGTCTACCGCATGCACTCT	0.483																																						ENST00000366479.2																			1	Substitution - Missense(1)	p.R226L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(676-678)cGc>cAc		olfactory receptor, family 2, subfamily L, member 2							245	216	226					1																	248202246		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202246G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.677G>A	1.37:g.248202246G>A	ENSP00000355435:p.Arg226His					OR2L13_ENST00000366478.2_Intron	p.R226H	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	773	+	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)		226					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.677G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	0.602	-0.828549	0.02734	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	N	0.775456	T	0.00144	0.0004	L	0.47716	1.5	0.09310	N	1	B	0.15719	0.014	B	0.17979	0.02	T	0.07121	-1.0789	10	0.13470	T	0.59	.	9.4994	0.39008	0.261:0.0:0.739:0.0	.	226	Q8NH16	OR2L2_HUMAN	H	226	ENSP00000355435:R226H	ENSP00000355435:R226H	R	+	2	0	OR2L2	246268869	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.737000	0.01843	-1.044000	0.03254	0.194000	0.17425	CGC		0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		5	352	0	0	0	1	0	5	352					A	248202246	G	A	248202246	3	1	487	1	0	0	0	0	1	0	0	0	11007	1087	38	1	679	1	OR2L2	1	248202246	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	3445437	248202246	1048375	4	39493											
CCDC108	255101	broad.mit.edu	37	chr2	219878294	219878294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggaggtgatcagtacCgatgaacaggtggctagaaa	14	7	1	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr2:219878294C>T	ENST00000341552.5	-	23	3876	c.3793G>A	c.(3793-3795)Ggt>Agt	p.G1265S	CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1265						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)		TGATCAGTACCGATGAACAGG	0.542																																						ENST00000341552.5																			0				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						c.(3793-3795)Ggt>Agt		coiled-coil domain containing 108							29	27	28					2																	219878294		2202	4298	6500	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219878294C>T	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.3793G>A	2.37:g.219878294C>T	ENSP00000340776:p.Gly1265Ser					CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA	p.G1265S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	23	3876	-		Renal(207;0.0915)	1265					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3793G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843753	0.91197	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.18657	2.2;2.2;2.2	4.58	4.58	0.56647	.	0.000000	0.42548	D	0.000688	T	0.41442	0.1159	M	0.74258	2.255	0.80722	D	1	D	0.65815	0.995	P	0.56398	0.797	T	0.42015	-0.9476	10	0.62326	D	0.03	-27.7294	16.1351	0.81476	0.0:1.0:0.0:0.0	.	1265	Q6ZU64	CC108_HUMAN	S	1265	ENSP00000340776:G1265S;ENSP00000413377:G1265S;ENSP00000409117:G1265S	ENSP00000340776:G1265S	G	-	1	0	CCDC108	219586538	0.997000	0.39634	0.936000	0.37596	0.952000	0.60782	3.724000	0.54962	2.372000	0.80975	0.650000	0.86243	GGT		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		3	12	0	0	0	1	0	3	12					T	219878294	C	T	219878294	3	4	487	1	0	0	0	0	1	0	0	0	2743	652	23	1	2036	1	CCDC108	2	219878294	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		219878294	23321079	5	39494											
ITIH4	3700	broad.mit.edu	37	chr3	52860815	52860815	+	Frame_Shift_Del	DEL	G	G	-													agcagcaggtacctgcaggtGcttgaccagctgctggggcc							TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:52860815delG	ENST00000266041.4	-	4	607	c.511delC	c.(511-513)cacfs	p.H171fs	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	171					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGCAGGTGCTTGACCAGC	0.622																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(511-513)acfs		inter-alpha-trypsin inhibitor heavy chain family, member 4							42	42	42					3																	52860815		2203	4300	6503	SO:0001589	frameshift_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52860815delG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.511delC	3.37:g.52860815delG	ENSP00000266041:p.His171fs					ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs	p.H171fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	4	607	-			171					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	c.511delC	CCDS2865.1																																																																																				0.622	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		41	69						41	69	---	---	---	---	-	52860815	G	-	52860815	7	5	487	1	0	1	0	1	0	0	0	0	7906	1319	46	0	2365	0	ITIH4	3	52860815	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RO-01A-11D-A33T-08		52860815	145161615	6	39495											
PRR23A	729627	broad.mit.edu	37	chr3	138724449	138724449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggacaggctccagaaggCggaattccgggtcgaagaag	17	8	0	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:138724449C>T	ENST00000383163.2	-	1	661	c.662G>A	c.(661-663)cGc>cAc	p.R221H	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	221	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						CTCCAGAAGGCGGAATTCCGG	0.682																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(661-663)cGc>cAc		proline rich 23A							33	39	38					3																	138724449		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724449C>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.662G>A	3.37:g.138724449C>T	ENSP00000372649:p.Arg221His						p.R221H	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	661	-			221			Pro-rich.			Missense_Mutation	SNP	ENST00000383163.2	37	c.662G>A	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.587986	0.00872	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	0.809	0.18725	.	0.965081	0.08521	N	0.933459	T	0.05410	0.0143	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	.	5.1312	0.14911	0.0:0.2575:0.0:0.7425	.	221	A6NEV1	PR23A_HUMAN	H	221	.	ENSP00000372649:R221H	R	-	2	0	PRR23A	140207139	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.153000	0.10144	0.166000	0.19597	-1.279000	0.01387	CGC		0.682	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		21	21	0	0	0	1	0	21	21					T	138724449	C	T	138724449	3	4	487	1	0	0	0	0	1	0	0	0	12594	768	27	1	142	1	PRR23A	3	138724449	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	85863634	138724449	59297981	7	39496											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	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						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			55	118	0	0	0	1	0	55	118					G	178952085	A	G	178952085	3	3	487	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08	40227636	178952085	19070345	8	39497											
PDE4D	5144	broad.mit.edu	37	chr5	59284439	59284439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactgtctgaaggcgagagGgggaagctgaatattgcgac	15	7	1	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:59284439G>A	ENST00000502484.2	-	3	371	c.148C>T	c.(148-150)Cct>Tct	p.P50S	PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGGCGAGAGGGGGAAGCTGA	0.488																																						ENST00000502484.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(148-150)Cct>Tct		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						164	151	155					5																	59284439		1568	3582	5150	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284439G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.148C>T	5.37:g.59284439G>A	ENSP00000423094:p.Pro50Ser					PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S	p.P50S	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	371	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0			Pro-rich.		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000502484.2	37	c.148C>T	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478203	0.96291	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.70045	-0.45;-0.45	5.71	5.71	0.89125	.	.	.	.	.	D	0.83769	0.5326	.	.	.	0.45172	D	0.998185	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.986	D	0.84972	0.0883	8	0.72032	D	0.01	.	19.8467	0.96710	0.0:0.0:1.0:0.0	.	50;50	D6RIG1;Q08499-11	.;.	S	50	ENSP00000423094:P50S;ENSP00000442734:P50S	ENSP00000423094:P50S	P	-	1	0	PDE4D	59320196	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.356000	0.90085	2.696000	0.92011	0.585000	0.79938	CCT		0.488	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			104	186	0	0	0	1	0	104	186					A	59284439	G	A	59284439	3	1	487	1	0	0	0	0	1	0	0	0	11642	1232	43	2	2668	2	PDE4D	5	59284439	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		59284439	121630821	9	39498											
TRIM23	373	broad.mit.edu	37	chr5	64892881	64892881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatattcatacttaccaaTtgttggaatgggctgcatga	8	8	1	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:64892881T>C	ENST00000231524.9	-	8	1677	c.1306A>G	c.(1306-1308)Att>Gtt	p.I436V	TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V|TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	436	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TACTTACCAATTGTTGGAATG	0.388																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1306-1308)Att>Gtt		tripartite motif containing 23							111	109	110					5																	64892881		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64892881T>C	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1306A>G	5.37:g.64892881T>C	ENSP00000231524:p.Ile436Val					TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V|TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V	p.I436V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	8	1677	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	436			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1306A>G	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427534	0.62733	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.83250	-1.7;-1.7;-1.7	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	L	0.35487	1.065	0.80722	D	1	P;P;P	0.52842	0.554;0.956;0.894	P;P;P	0.55923	0.787;0.68;0.589	D	0.84866	0.0822	10	0.48119	T	0.1	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	436;436;436	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	436	ENSP00000231524:I436V;ENSP00000370406:I436V;ENSP00000274327:I436V	ENSP00000231524:I436V	I	-	1	0	TRIM23	64928637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	ATT		0.388	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		70	185	0	0	0	1	0	70	185					C	64892881	T	C	64892881	3	2	487	1	0	0	0	0	1	0	0	0	16494	1493	52	3	501	3	TRIM23	5	64892881	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08	5608442	64892881	116022379	10	39499											
MCTP1	79772	broad.mit.edu	37	chr5	94248550	94248550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccaagccggaacttcacGtagggatcgctcaacccgtt	10	14	2	0	rs373286514		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:94248550G>A	ENST00000515393.1	-	9	1481	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y|MCTP1_ENST00000312216.8_Silent_p.Y273Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	494	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGAACTTCACGTAGGGATCGC	0.468																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(1480-1482)taC>taT		multiple C2 domains, transmembrane 1		G	,	0,4406		0,0,2203	153	137	142		819,1482	-9	0.5	5		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MCTP1	NM_001002796.2,NM_024717.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	273/779,494/1000	94248550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248550G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1482C>T	5.37:g.94248550G>A						MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y|MCTP1_ENST00000312216.8_Silent_p.Y273Y	p.Y494Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1481	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	494			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1482C>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	8.281	0.815635	0.16607	0.0	1.16E-4	ENSG00000175471	ENST00000503301	.	.	.	5.72	-9.01	0.00744	.	.	.	.	.	T	0.62684	0.2448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71567	-0.4554	4	.	.	.	-13.9549	17.1561	0.86791	0.5277:0.0:0.4723:0.0	.	.	.	.	C	257	.	.	R	-	1	0	MCTP1	94274306	0.024000	0.19004	0.462000	0.27118	0.933000	0.57130	-0.594000	0.05733	-2.132000	0.00814	-0.759000	0.03464	CGT		0.468	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		5	234	0	0	0	1	0	5	234					A	94248550	G	A	94248550	2	1	487	1	0	0	0	0	0	0	0	1	9400	1140	40	1		1	MCTP1	5	94248550	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	29355669	94248550	86666710	11	39500											
PCDHA2	56146	broad.mit.edu	37	chr5	140176258	140176258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgttggcgcctagggCtggcaccgctgctggcgcag	17	13	0	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:140176258C>T	ENST00000526136.1	+	1	1709	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	570					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)			GCGCCTAGGGCTGGCACCGCT	0.697																																						ENST00000526136.1																			0				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						c.(1708-1710)gCt>gTt									95	91	92					5																	140176258		2203	4298	6501	SO:0001583	missense	0							g.chr5:140176258C>T	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.1709C>T	5.37:g.140176258C>T	ENSP00000431748:p.Ala570Val					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V	p.A570V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1709	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1709C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.505725	0.00992	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52754	0.72;0.65;0.69	3.75	0.801	0.18679	Cadherin-like (1);	0.663947	0.12104	N	0.499216	T	0.21347	0.0514	N	0.10707	0.03	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15052	0.012;0.003;0.012	T	0.21827	-1.0234	10	0.16896	T	0.51	.	4.1505	0.10235	0.0:0.501:0.183:0.316	.	570;570;570	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	570	ENSP00000430584:A570V;ENSP00000367372:A570V;ENSP00000431748:A570V	ENSP00000367372:A570V	A	+	2	0	PCDHA2	140156442	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.216000	0.17585	0.220000	0.20860	-1.124000	0.02001	GCT		0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		5	191	0	0	0	1	0	5	191					T	140176258	C	T	140176258	3	4	487	1	0	0	0	0	1	0	0	0	11524	797	28	2	1711	2	PCDHA2	5	140176258	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	45927708	140176258	40739002	12	39501											
SSPO	23145	broad.mit.edu	37	chr7	149485858	149485858	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtgccaggaaggtcaAtggcattgtgggggtgacgg	18	7	1	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr7:149485858A>G	ENST00000378016.2	+	0	4077							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)			AGGAAGGTCAATGGCATTGTG	0.622																																						ENST00000378016.2																			0													SCO-spondin							74	78	76					7																	149485858		2177	4267	6444			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485858A>G	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.149485858A>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4077	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				31	62	0	0	0	1	0	31	62					G	149485858	A	G	149485858	1	3	487	0	1	0	0	0	0	0	0	0	15188	98	4	3		3	SSPO	7	149485858	RNA	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08		149485858	9652805	13	39502											
WRN	7486	broad.mit.edu	37	chr8	30946435	30946435	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcacccaatgaagagCaagttacttgcctcaagatg	10	11	1	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:30946435C>G	ENST00000298139.5	+	13	1855	c.1606C>G	c.(1606-1608)Caa>Gaa	p.Q536E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	536					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGAAGAGCAAGTTACTTG	0.328			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1606-1608)Caa>Gaa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							99	91	94					8																	30946435		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30946435C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1606C>G	8.37:g.30946435C>G	ENSP00000298139:p.Gln536Glu						p.Q536E	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	13	1855	+		Breast(100;0.195)	536					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1606C>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516358	0.64634	.	.	ENSG00000165392	ENST00000298139	T	0.43294	0.95	5.5	5.5	0.81552	.	0.159491	0.46442	D	0.000294	T	0.43366	0.1244	L	0.55990	1.75	0.45634	D	0.998562	P	0.42296	0.775	B	0.39590	0.304	T	0.38650	-0.9651	10	0.44086	T	0.13	-10.2156	19.0028	0.92841	0.0:1.0:0.0:0.0	.	536	Q14191	WRN_HUMAN	E	536	ENSP00000298139:Q536E	ENSP00000298139:Q536E	Q	+	1	0	WRN	31065977	0.987000	0.35691	0.361000	0.25849	0.321000	0.28281	2.977000	0.49297	2.586000	0.87340	0.655000	0.94253	CAA		0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			36	51	0	0	0	1	0	36	51					G	30946435	C	G	30946435	3	3	487	1	0	0	0	0	1	0	0	0	17399	711	25	4	1652	4	WRN	8	30946435	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		30946435	115417587	14	39503											
TRPA1	8989	broad.mit.edu	37	chr8	72968063	72968063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacccatcgttgtcttcatCcattaccagctctttgatct	4	14	4	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:72968063C>T	ENST00000262209.4	-	11	1429	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	408					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTCTTCATCCATTACCAGC	0.368																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1222-1224)Gat>Aat		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						52	54	53					8																	72968063		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72968063C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1222G>A	8.37:g.72968063C>T	ENSP00000262209:p.Asp408Asn					RP11-383H13.1_ENST00000457356.4_3'UTR	p.D408N	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1429	-			408					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1222G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218449	0.79464	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71222	-0.55;-0.55	5.1	5.1	0.69264	Ankyrin repeat-containing domain (2);	0.143817	0.64402	D	0.000007	T	0.82107	0.4965	M	0.69823	2.125	0.49213	D	0.999769	D	0.71674	0.998	P	0.62649	0.905	T	0.80968	-0.1145	10	0.36615	T	0.2	-29.5996	18.8547	0.92247	0.0:1.0:0.0:0.0	.	408	O75762	TRPA1_HUMAN	N	260;408	ENSP00000428151:D260N;ENSP00000262209:D408N	ENSP00000262209:D408N	D	-	1	0	TRPA1	73130617	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.757000	0.55212	2.521000	0.84997	0.650000	0.86243	GAT		0.368	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		49	57	0	0	0	1	0	49	57					T	72968063	C	T	72968063	3	4	487	1	0	0	0	0	1	0	0	0	16574	855	30	2	2205	2	TRPA1	8	72968063	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	42021628	72968063	73395959	15	39504											
GML	2765	broad.mit.edu	37	chr8	143928001	143928001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaagggacatgttaccCgatgaagtaactgaggagga	13	6	0	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:143928001C>T	ENST00000220940.1	+	4	462	c.372C>T	c.(370-372)ccC>ccT	p.P124P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	124	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACATGTTACCCGATGAAGTAA	0.418																																						ENST00000220940.1																			1	Substitution - coding silent(1)	p.P124P(1)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(370-372)ccC>ccT		glycosylphosphatidylinositol anchored molecule like							109	106	107					8																	143928001		2203	4300	6503	SO:0001819	synonymous_variant	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143928001C>T	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"GPI anchored molecule like protein", "glycosylphosphatidylinositol anchored molecule like protein"			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.372C>T	8.37:g.143928001C>T							p.P124P	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			4	462	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		124			UPAR/Ly6.		A0AVF6|O00686|O00731	Silent	SNP	ENST00000220940.1	37	c.372C>T	CCDS6391.1																																																																																				0.418	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		5	218	0	0	0	1	0	5	218					T	143928001	C	T	143928001	2	4	487	1	0	0	0	0	0	0	0	1	6492	639	23	1		1	GML	8	143928001	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	70959938	143928001	2436021	16	39505											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	11	14	0	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	247	0	0	0	1	0	7	247					A	20414313	G	A	20414313	2	1	487	1	0	0	0	0	0	0	0	1	9628	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		20414313	120799118	17	39506											
TLN1	7094	broad.mit.edu	37	chr9	35720836	35720836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgatatcgatgtagccGgcaatgagctgtgcaatctg	13	7	1	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:35720836G>A	ENST00000314888.9	-	11	1532	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	TLN1_ENST00000540444.1_Silent_p.A393A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	393	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				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)			CGATGTAGCCGGCAATGAGCT	0.507																																						ENST00000314888.9																			0				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						c.(1177-1179)gcC>gcT		talin 1							160	135	144					9																	35720836		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720836G>A	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.1179C>T	9.37:g.35720836G>A						TLN1_ENST00000540444.1_Silent_p.A393A	p.A393A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		11	1532	-	all_epithelial(49;0.167)		393			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.1179C>T	CCDS35009.1																																																																																				0.507	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		32	130	0	0	0	1	0	32	130					A	35720836	G	A	35720836	2	1	487	1	0	0	0	0	0	0	0	1	15944	1103	39	1		1	TLN1	9	35720836	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	15306523	35720836	105492595	18	39507											
PHYH	5264	broad.mit.edu	37	chr10	13337514	13337514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaaagcgttgaatatcgGcatcaggtacaagatttttg	10	7	1	2	rs141855372	byFrequency	TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:13337514G>A	ENST00000263038.4	-	3	285	c.227C>T	c.(226-228)gCc>gTc	p.A76V	PHYH_ENST00000396920.3_Missense_Mutation_p.A57V|PHYH_ENST00000396913.2_5'UTR	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	76					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGAATATCGGCATCAGGTAC	0.353																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(169-171)gCc>gTc		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	G	,VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	85	86	86		,227	3.6	0.6	10	dbSNP_134	86	0,8600		0,0,4300	no	utr-5,missense	PHYH	NM_001037537.1,NM_006214.3	,64	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	,benign	,76/339	13337514	2,13000	2201	4300	6501	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13337514G>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.227C>T	10.37:g.13337514G>A	ENSP00000263038:p.Ala76Val					PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000263038.4_Missense_Mutation_p.A76V	p.A57V			O14832	PAHX_HUMAN			3	574	-		Ovarian(717;0.0448)	76					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.170C>T	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	5.092	0.202592	0.09652	4.54E-4	0.0	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.91068	-2.78;-2.78;-2.78	5.63	3.59	0.41128	.	0.319277	0.34046	N	0.004310	D	0.88198	0.6372	M	0.69823	2.125	0.28386	N	0.919312	B;B	0.23249	0.012;0.082	B;B	0.24155	0.035;0.051	T	0.80246	-0.1462	10	0.44086	T	0.13	-5.2325	8.4403	0.32812	0.0743:0.0:0.3547:0.571	.	57;76	B1ALH6;O14832	.;PAHX_HUMAN	V	76;57;76	ENSP00000263038:A76V;ENSP00000380126:A57V;ENSP00000420117:A76V	ENSP00000263038:A76V	A	-	2	0	PHYH	13377520	0.955000	0.32602	0.566000	0.28421	0.012000	0.07955	1.295000	0.33377	0.554000	0.29061	-0.328000	0.08392	GCC		0.353	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			5	322	0	0	0	1	0	5	322					A	13337514	G	A	13337514	3	1	487	1	0	0	0	0	1	0	0	0	11864	1203	42	2	817	2	PHYH	10	13337514	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		13337514	122197233	19	39508											
FGFBP3	143282	broad.mit.edu	37	chr10	93668353	93668353	+	Frame_Shift_Del	DEL	T	T	-													cctggagcggcgcggggtcgTgacagggcctccgcttcttg							TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:93668353delT	ENST00000311575.5	-	2	537	c.374delA	c.(373-375)cacfs	p.H125fs	RP11-402D21.2_ENST00000610263.1_RNA	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	125					positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of vascular permeability (GO:0043117)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				CGCGGGGTCGTGACAGGGCCT	0.761																																						ENST00000311575.5																			0				large_intestine(1)|prostate(1)	2						c.(373-375)ccfs		fibroblast growth factor binding protein 3							2	2	2					10																	93668353		1623	3230	4853	SO:0001589	frameshift_variant	143282				positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding	g.chr10:93668353delT	AK075410	CCDS7418.1	10q23.33	2006-12-14	2006-12-14	2006-12-14	ENSG00000174721	ENSG00000174721			23428	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 13"	C10orf13			Standard	NM_152429		Approved	MGC39320	uc001khq.4	Q8TAT2	OTTHUMG00000018751	ENST00000311575.5:c.374delA	10.37:g.93668353delT	ENSP00000339067:p.His125fs						p.H125fs	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN			2	537	-		Colorectal(252;0.162)	125					B2RD68|Q8NBN0	Frame_Shift_Del	DEL	ENST00000311575.5	37	c.374delA	CCDS7418.1																																																																																				0.761	FGFBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049379.1	NM_152429		2	4						2	4	---	---	---	---	-	93668353	T	-	93668353	7	5	487	1	0	1	0	1	0	0	0	0	5862	1696	59	0	406	0	FGFBP3	10	93668353	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RO-01A-11D-A33T-08	80330839	93668353	41866394	20	39509											
HPX	3263	broad.mit.edu	37	chr11	6452914	6452914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccagggcagataaaggcCgcatccacagagtccaggat	12	12	0	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:6452914C>T	ENST00000265983.3	-	9	1186	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					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)		AGATAAAGGCCGCATCCACAG	0.557																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1084-1086)gcG>gcA		hemopexin							75	77	76					11																	6452914		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452914C>T	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.1086G>A	11.37:g.6452914C>T							p.A362A	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	9	1186	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	362					B2R957	Silent	SNP	ENST00000265983.3	37	c.1086G>A	CCDS7763.1																																																																																				0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		80	108	0	0	0	1	0	80	108					T	6452914	C	T	6452914	2	4	487	1	0	0	0	0	0	0	0	1	7346	639	23	1		1	HPX	11	6452914	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		6452914	128553602	21	39510											
USH1C	10083	broad.mit.edu	37	chr11	17531148	17531148	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccatggagaggatgaggCgctcacatggccagataagg	14	10	1	3	rs369255684		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:17531148C>T	ENST00000318024.4	-	16	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.A590T|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGGATGAGGCGCTCACATGG	0.672																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1768-1770)Gcc>Acc		Usher syndrome 1C (autosomal recessive, severe)		C	,THR/ALA	0,4386		0,0,2193	11	14	13		,1768	-4.3	0	11		13	1,8561		0,1,4280	no	intron,missense	USH1C	NM_005709.3,NM_153676.3	,58	0,1,6473	TT,TC,CC		0.0117,0.0,0.0077	,benign	,590/900	17531148	1,12947	2193	4281	6474	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531148C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7621G>A	11.37:g.17531148C>T						USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	p.A590T	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1767	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1768G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.716613	0.00706	0.0	1.17E-4	ENSG00000006611	ENST00000005226	T	0.38560	1.13	5.74	-4.32	0.03688	.	0.562726	0.18408	N	0.142151	T	0.21103	0.0508	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14392	-1.0474	9	0.25106	T	0.35	.	8.0613	0.30635	0.141:0.2015:0.0:0.6575	.	590	Q7RTU8	.	T	590	ENSP00000005226:A590T	ENSP00000005226:A590T	A	-	1	0	USH1C	17487724	0.045000	0.20229	0.008000	0.14137	0.007000	0.05969	0.128000	0.15810	-0.576000	0.05974	-0.948000	0.02665	GCC		0.672	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		8	27	0	0	0	1	0	8	27					T	17531148	C	T	17531148	1	4	487	0	1	0	0	0	0	0	0	0	17031	768	27	1		1	USH1C	11	17531148	Intron	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	11078234	17531148	117475368	22	39511											
OR9Q1	219956	broad.mit.edu	37	chr11	57947747	57947747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtagtgtctgtgctttaCacagaggtcatccccatgtt	11	10	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:57947747C>T	ENST00000335397.3	+	3	1147	c.831C>T	c.(829-831)taC>taT	p.Y277Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	277						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(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTGTGCTTTACACAGAGGTCA	0.468																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(829-831)taC>taT		olfactory receptor, family 9, subfamily Q, member 1							115	100	105					11																	57947747		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947747C>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"GPCR / Class A : Olfactory receptors"	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.831C>T	11.37:g.57947747C>T							p.Y277Y	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	1147	+		Breast(21;0.222)	277					Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.831C>T	CCDS31543.1																																																																																				0.468	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		53	119	0	0	0	1	0	53	119					T	57947747	C	T	57947747	2	4	487	1	0	0	0	0	0	0	0	1	11255	489	17	2		2	OR9Q1	11	57947747	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	40416599	57947747	77058769	23	39512											
FOLR4	390243	broad.mit.edu	37	chr11	94038918	94038918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagagagtgcccagccCagaagacaagctctatgagg	11	12	1	4			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:94038918C>T	ENST00000440961.2	+	1	160	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	39					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGCCCAGCCCAGAAGACAAG	0.567																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(115-117)cCa>cTa		folate receptor 4, delta (putative)							53	56	55					11																	94038918		2027	4191	6218	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94038918C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"folate receptor 4 (delta) homolog (mouse)"			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.116C>T	11.37:g.94038918C>T	ENSP00000416935:p.Pro39Leu						p.P39L	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			1	160	+			39						Missense_Mutation	SNP	ENST00000440961.2	37	c.116C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.000547|3.000547	0.54254|0.54254	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000440961|ENST00000328458	T|.	0.77877|.	-1.13|.	4.68|4.68	3.76|3.76	0.43208|0.43208	.|.	0.132681|.	0.51477|.	D|.	0.000090|.	T|.	0.67998|.	0.2953|.	M|M	0.87682|0.87682	2.9|2.9	0.29951|0.29951	N|N	0.820207|0.820207	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.68085|.	-0.5502|.	10|.	0.87932|.	D|.	0|.	-15.6556|-15.6556	10.1835|10.1835	0.42984|0.42984	0.3622:0.6378:0.0:0.0|0.3622:0.6378:0.0:0.0	.|.	39|.	A6ND01-2|.	.|.	L|X	39|33	ENSP00000416935:P39L|.	ENSP00000416935:P39L|.	P|Q	+|+	2|1	0|0	FOLR4|FOLR4	93678566|93678566	0.984000|0.984000	0.35163|0.35163	0.016000|0.016000	0.15963|0.15963	0.001000|0.001000	0.01503|0.01503	3.677000|3.677000	0.54619|0.54619	1.308000|1.308000	0.44962|0.44962	-0.182000|-0.182000	0.12963|0.12963	CCA|CAG		0.567	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		32	33	0	0	0	1	0	32	33					T	94038918	C	T	94038918	3	4	487	1	0	0	0	0	1	0	0	0	5984	594	21	2	118	2	FOLR4	11	94038918	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	36091171	94038918	40967598	24	39513											
PRDM10	56980	broad.mit.edu	37	chr11	129812402	129812402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtaagccaccaggttctgCtccaggtgattctgggctgg	14	10	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:129812402C>A	ENST00000360871.3	-	7	1116	c.885G>T	c.(883-885)gaG>gaT	p.E295D	PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000358825.5_Missense_Mutation_p.E295D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	295	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)		CCAGGTTCTGCTCCAGGTGAT	0.473																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(883-885)gaG>gaT		PR domain containing 10							139	132	134					11																	129812402		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812402C>A	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.885G>T	11.37:g.129812402C>A	ENSP00000354118:p.Glu295Asp					PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E295D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D	p.E295D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	7	1116	-	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)	295			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.885G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849858	0.71603	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;2.31	5.39	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.73319	2.225	0.46185	D	0.998912	P;D;P;P;P;P;P	0.52996	0.841;0.957;0.901;0.841;0.901;0.781;0.901	P;P;P;P;P;P;P	0.62560	0.75;0.904;0.873;0.75;0.873;0.823;0.873	T	0.62666	-0.6806	10	0.87932	D	0	-38.0766	9.3005	0.37842	0.0:0.7044:0.0:0.2956	.	209;295;295;295;209;209;209	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	D	295;209;295;209;269;209;12	ENSP00000351686:E295D;ENSP00000302669:E209D;ENSP00000354118:E295D;ENSP00000398431:E209D;ENSP00000431262:E269D;ENSP00000432237:E209D;ENSP00000435940:E12D	ENSP00000302669:E209D	E	-	3	2	PRDM10	129317612	0.997000	0.39634	1.000000	0.80357	0.831000	0.47069	0.533000	0.23082	0.763000	0.33175	-0.221000	0.12465	GAG		0.473	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	254	1	0	0.150653	1	0.150653	4	254					A	129812402	C	A	129812402	3	1	487	1	0	0	0	0	1	0	0	0	12451	796	28	4	2661	4	PRDM10	11	129812402	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	35773484	129812402	5194114	25	39514											
MED13L	23389	broad.mit.edu	37	chr12	116435002	116435002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgttccaaagatggtGgagtgggaaacatcctttgc	13	7	0	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr12:116435002G>A	ENST00000281928.3	-	15	2809	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAAGATGGTGGAGTGGGAAA	0.398																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(2602-2604)cCa>cTa		mediator complex subunit 13-like							93	88	89					12																	116435002		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116435002G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2603C>T	12.37:g.116435002G>A	ENSP00000281928:p.Pro868Leu						p.P868L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	15	2809	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		868					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2603C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136198	0.77662	.	.	ENSG00000123066	ENST00000281928	D	0.95656	-3.77	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98304	1.0520	10	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	868	Q71F56	MD13L_HUMAN	L	868	ENSP00000281928:P868L	ENSP00000281928:P868L	P	-	2	0	MED13L	114919385	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.230000	0.95299	2.665000	0.90641	0.467000	0.42956	CCA		0.398	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			4	234	0	0	0	1	0	4	234					A	116435002	G	A	116435002	3	1	487	1	0	0	0	0	1	0	0	0	9431	1348	47	2	4097	2	MED13L	12	116435002	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		116435002	17416893	26	39515											
GPR109A	338442	broad.mit.edu	37	chr12	123187329	123187329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccgccattctggatcgGcatcttcttcttcaggaggt	10	12	5	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr12:123187329G>A	ENST00000328880.5	-	1	561	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	168					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TTCTGGATCGGCATCTTCTTC	0.542																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(502-504)Ccg>Tcg		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						105	92	96					12																	123187329		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187329G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.502C>T	12.37:g.123187329G>A	ENSP00000375066:p.Pro168Ser					HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	p.P168S	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	561	-			168					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.502C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	3.716	-0.058560	0.07317	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.71579	-0.58	4.69	-2.97	0.05530	GPCR, rhodopsin-like superfamily (1);	0.931942	0.08863	N	0.882782	T	0.37758	0.1015	N	0.04335	-0.225	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.15838	-1.0423	10	0.18276	T	0.48	-5.1214	1.3561	0.02182	0.3946:0.2401:0.2359:0.1293	.	168	Q8TDS4	HCAR2_HUMAN	S	168	ENSP00000375066:P168S	ENSP00000375066:P168S	P	-	1	0	HCAR2	121753282	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.592000	0.05851	0.655000	0.94253	CCG		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		4	152	0	0	0	1	0	4	152					A	123187329	G	A	123187329	3	1	487	1	0	0	0	0	1	0	0	0	6625	1203	42	2	593	2	GPR109A	12	123187329	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	6752327	123187329	10664566	27	39516											
DCT	1638	broad.mit.edu	37	chr13	95121241	95121241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtggtttcttccgctcGcagttgggaccggtccagcc	13	13	1	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr13:95121241G>A	ENST00000377028.5	-	2	767	c.354C>T	c.(352-354)tgC>tgT	p.C118C	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Silent_p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	118					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTTCCGCTCGCAGTTGGGAC	0.498																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(352-354)tgC>tgT		dopachrome tautomerase							147	153	151					13																	95121241		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121241G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.354C>T	13.37:g.95121241G>A						DCT_ENST00000446125.1_Silent_p.C118C	p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	767	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	118					Q09GT4	Silent	SNP	ENST00000377028.5	37	c.354C>T	CCDS9470.1																																																																																				0.498	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			11	390	0	0	0	1	0	11	390					A	95121241	G	A	95121241	2	1	487	1	0	0	0	0	0	0	0	1	4304	1079	38	1		1	DCT	13	95121241	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		95121241	20048637	28	39517											
DISP2	85455	broad.mit.edu	37	chr15	40655853	40655853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaggctgtgccccctgaGgcaagcccagagagaagctg	13	13	0	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:40655853G>A	ENST00000267889.3	+	2	234	c.147G>A	c.(145-147)gaG>gaA	p.E49E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	49					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)		TGCCCCCTGAGGCAAGCCCAG	0.622																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(145-147)gaG>gaA		dispatched homolog 2 (Drosophila)							89	104	99					15																	40655853		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40655853G>A	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.147G>A	15.37:g.40655853G>A							p.E49E	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		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)	2	234	+		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)	49					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.147G>A	CCDS10056.1																																																																																				0.622	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		28	120	0	0	0	1	0	28	120					A	40655853	G	A	40655853	2	1	487	1	0	0	0	0	0	0	0	1	4540	991	35	2		2	DISP2	15	40655853	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		40655853	61875539	29	39518											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	16	11	0	1	rs121913503		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|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)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85	81	82					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			44	43	0	0	0	1	0	44	43					T	90631838	C	T	90631838	3	4	487	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	49975985	90631838	11899554	30	39519											
MLST8	64223	broad.mit.edu	37	chr16	2258498	2258498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgcaagatctggaggaCgtccaacttctccctgatga	11	11	2	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:2258498C>T	ENST00000569417.1	+	8	1100	c.746C>T	c.(745-747)aCg>aTg	p.T249M	MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	249					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 actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						ATCTGGAGGACGTCCAACTTC	0.662																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(745-747)aCg>aTg		MTOR associated protein, LST8 homolog (S. cerevisiae)							62	76	71					16																	2258498		2156	4254	6410	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258498C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	24825	protein-coding gene	gene with protein product	"G protein beta subunit like"	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.746C>T	16.37:g.2258498C>T	ENSP00000456405:p.Thr249Met					MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M	p.T249M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			8	1100	+			249					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.746C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257405	0.80246	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124	T;T	0.42131	1.53;0.98	4.83	3.85	0.44370	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	0.51109	0.1655	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.929	T	0.52109	-0.8619	10	0.59425	D	0.04	-17.1635	12.9536	0.58415	0.1633:0.8367:0.0:0.0	.	183;249	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	M	249	ENSP00000301724:T249M;ENSP00000380313:T249M	ENSP00000301724:T249M	T	+	2	0	MLST8	2198499	1.000000	0.71417	0.908000	0.35775	0.918000	0.54935	7.766000	0.85320	0.980000	0.38523	0.313000	0.20887	ACG		0.662	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		7	195	0	0	0	1	0	7	195					T	2258498	C	T	2258498	3	4	487	1	0	0	0	0	1	0	0	0	9634	536	19	1	772	1	MLST8	16	2258498	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		2258498	88096255	31	39520											
SLC5A11	115584	broad.mit.edu	37	chr16	24918463	24918463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatcacctccggcctcGggcatctgagaaggagctca	12	13	3	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:24918463G>A	ENST00000347898.3	+	12	1854	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTCCGGCCTCGGGCATCTGAG	0.597																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1231-1233)cGg>cAg		solute carrier family 5 (sodium/inositol cotransporter), member 11							110	111	111					16																	24918463		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24918463G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1232G>A	16.37:g.24918463G>A	ENSP00000289932:p.Arg411Gln					SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q	p.R411Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	12	1854	+			411						Missense_Mutation	SNP	ENST00000347898.3	37	c.1232G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	8.798	0.932316	0.18131	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.57	1.31	0.21738	.	0.430315	0.26627	N	0.023338	T	0.75561	0.3866	N	0.12746	0.255	0.19300	N	0.999972	D;B;B;B	0.67145	0.996;0.008;0.03;0.413	P;B;B;B	0.51016	0.656;0.01;0.041;0.122	T	0.67887	-0.5554	10	0.12430	T	0.62	.	5.9288	0.19128	0.2254:0.155:0.6196:0.0	.	341;376;411;255	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	Q	411;255;376;341;347	ENSP00000289932:R411Q;ENSP00000389606:R255Q;ENSP00000416782:R376Q;ENSP00000441384:R341Q;ENSP00000441018:R347Q	ENSP00000289932:R411Q	R	+	2	0	SLC5A11	24825964	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	0.413000	0.21148	0.731000	0.32448	0.563000	0.77884	CGG		0.597	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		110	164	0	0	0	1	0	110	164					A	24918463	G	A	24918463	3	1	487	1	0	0	0	0	1	0	0	0	14663	1116	39	1	1274	1	SLC5A11	16	24918463	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	22659965	24918463	65436290	32	39521											
KRT20	54474	broad.mit.edu	37	chr17	39041252	39041252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccaacaaacaggtccccGccgcctgtgagatcgctccc	9	17	0	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:39041252G>A	ENST00000167588.3	-	1	227	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	62	Head.				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)				ACAGGTCCCCGCCGCCTGTGA	0.577																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(184-186)ggC>ggT		keratin 20							79	73	75					17																	39041252		2203	4300	6503	SO:0001819	synonymous_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041252G>A	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.186C>T	17.37:g.39041252G>A							p.G62G	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	227	-		Breast(137;0.000301)|Ovarian(249;0.15)	62			Head.		B2R6W7	Silent	SNP	ENST00000167588.3	37	c.186C>T	CCDS11379.1																																																																																				0.577	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			4	180	0	0	0	1	0	4	180					A	39041252	G	A	39041252	2	1	487	1	0	0	0	0	0	0	0	1	8458	1074	38	1		1	KRT20	17	39041252	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		39041252	42153958	33	39522											
UNK	85451	broad.mit.edu	37	chr17	73814838	73814838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccagcagcgtccccgGcatgaatgcaaacgctctgc	12	15	1	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:73814838G>A	ENST00000589666.1	+	11	1597	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	UNK_ENST00000293218.3_Missense_Mutation_p.G572D|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	496							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			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)			AGCGTCCCCGGCATGAATGCA	0.597																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1714-1716)gGc>gAc		unkempt family zinc finger							58	62	61					17																	73814838		2027	4190	6217	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73814838G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"Zinc fingers, CCCH-type domain containing"	29369	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 5", "zinc finger CCCH-type containing 5", "unkempt homolog (Drosophila)"	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1487G>A	17.37:g.73814838G>A	ENSP00000464893:p.Gly496Asp					UNK_ENST00000589666.1_Missense_Mutation_p.G496D	p.G572D			Q9C0B0	UNK_HUMAN	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)		12	1715	+			496						Missense_Mutation	SNP	ENST00000589666.1	37	c.1715G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	32	5.117702	0.94385	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66192	-0.5985	9	0.13108	T	0.6	-19.3774	19.5183	0.95174	0.0:0.0:1.0:0.0	.	496	Q9C0B0	UNK_HUMAN	D	572	.	ENSP00000293218:G572D	G	+	2	0	UNK	71326433	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.350000	0.73017	2.613000	0.88420	0.467000	0.42956	GGC		0.597	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		4	61	0	0	0	1	0	4	61					A	73814838	G	A	73814838	3	1	487	1	0	0	0	0	1	0	0	0	16997	1203	42	2	1761	2	UNK	17	73814838	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	34773586	73814838	7380372	34	39523											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271878	36271878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcaccttcatgcgctccCgcccttctcggcagcggctg	10	19	2	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:36271878C>T	ENST00000007510.4	+	11	1030	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	296					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGCGCTCCCGCCCTTCTCG	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(886-888)Cgc>Tgc		Rho GTPase activating protein 33							38	44	42					19																	36271878		2201	4294	6495	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271878C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.886C>T	19.37:g.36271878C>T	ENSP00000007510:p.Arg296Cys					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C	p.R296C			O14559	RHG33_HUMAN			11	1030	+			296					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.120148	0.77323	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.14893	2.78;2.47;2.9	5.13	4.08	0.47627	.	0.000000	0.64402	D	0.000001	T	0.39200	0.1069	M	0.64170	1.965	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.8	T	0.29058	-1.0024	10	0.87932	D	0	.	14.6721	0.68951	0.0:0.8536:0.1463:0.0	.	160;296	O14559-10;O14559-11	.;.	C	296;296;160	ENSP00000007510:R296C;ENSP00000320038:R296C;ENSP00000368227:R160C	ENSP00000007510:R296C	R	+	1	0	ARHGAP33	40963718	0.071000	0.21146	1.000000	0.80357	0.989000	0.77384	0.458000	0.21892	1.131000	0.42111	0.561000	0.74099	CGC		0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		4	93	0	0	0	1	0	4	93					T	36271878	C	T	36271878	3	4	487	1	0	0	0	0	1	0	0	0	882	652	23	1	928	1	ARHGAP33	19	36271878	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		36271878	22857105	35	39524											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	13	12	1	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000572681.2_Missense_Mutation_p.R1111W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		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)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	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						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63	67	66					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	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.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			41	30	0	0	0	1	0	41	30					T	42791718	C	T	42791718	3	4	487	1	0	0	0	0	1	0	0	0	3424	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	6519840	42791718	16337265	36	39525											
AURKA	116151	broad.mit.edu	37	chr20	54945296	54945296	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatccaggggtgttcaagtActtctctgagcattggcctc	11	10	2	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr20:54945296A>T	ENST00000371384.3	+	0	3046				AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000395909.4_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											GTGTTCAAGTACTTCTCTGAG	0.453																																						ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(1129-1131)gTa>gAa		aurora kinase A							173	153	160					20																	54945296		2203	4298	6501	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945296A>T	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945296A>T						AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E	p.V377E	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		11	1695	-			377			Protein kinase.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.1130T>A	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826030	0.90955	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.090039	0.46442	D	0.000292	D	0.83866	0.5347	M	0.87038	2.855	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	D	0.87090	0.2172	10	0.87932	D	0	-7.1875	15.465	0.75394	1.0:0.0:0.0:0.0	.	309;377;377	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	E	377	ENSP00000379245:V377E;ENSP00000379250:V377E;ENSP00000216911:V377E;ENSP00000379251:V377E;ENSP00000321591:V377E;ENSP00000360407:V377E;ENSP00000379249:V377E;ENSP00000379247:V377E	ENSP00000321591:V377E	V	-	2	0	AURKA	54378703	1.000000	0.71417	0.975000	0.42487	0.934000	0.57294	9.118000	0.94355	2.115000	0.64714	0.528000	0.53228	GTA		0.453	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		6	351	0	0	0	1	0	6	351					T	54945296	A	T	54945296	1	4	487	0	1	0	0	0	0	0	0	0	1221	391	14	5		5	AURKA	20	54945296	IGR	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08		54945296	8080224	37	39526											
MORC2	22880	broad.mit.edu	37	chr22	31332565	31332565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttctgcttctcttccTgcgtcttcatgtcctttctg	7	12	5	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:31332565T>C	ENST00000397641.3	-	17	2078	c.1670A>G	c.(1669-1671)cAg>cGg	p.Q557R	MORC2_ENST00000215862.4_Missense_Mutation_p.Q495R|MORC2_ENST00000469915.1_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	557						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTCTCTTCCTGCGTCTTCAT	0.517																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(1483-1485)cAg>cGg		MORC family CW-type zinc finger 2							193	168	176					22																	31332565		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31332565T>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1670A>G	22.37:g.31332565T>C	ENSP00000380763:p.Gln557Arg					MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.Q557R	p.Q495R	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			18	2847	-			557					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1484A>G		.	.	.	.	.	.	.	.	.	.	T	15.89	2.966897	0.53507	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12361	2.7;2.69	6.06	5.02	0.67125	.	0.237964	0.44902	D	0.000406	T	0.15176	0.0366	M	0.64997	1.995	0.80722	D	1	B	0.31730	0.337	B	0.28553	0.091	T	0.03068	-1.1076	10	0.20519	T	0.43	.	13.151	0.59490	0.0:0.0:0.1337:0.8663	.	557	Q9Y6X9	MORC2_HUMAN	R	557;495	ENSP00000380763:Q557R;ENSP00000215862:Q495R	ENSP00000215862:Q495R	Q	-	2	0	MORC2	29662565	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.712000	0.54875	1.075000	0.40932	0.533000	0.62120	CAG		0.517	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		104	156	0	0	0	1	0	104	156					C	31332565	T	C	31332565	3	2	487	1	0	0	0	0	1	0	0	0	9702	1580	55	3	1468	3	MORC2	22	31332565	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08		31332565	19972001	38	39527											
TST	7263	broad.mit.edu	37	chr22	37414310	37414310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggagcggtccagtgtgGctttgaagacggccggttct	17	9	1	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:37414310G>T	ENST00000403892.3	-	1	1198	c.464C>A	c.(463-465)gCc>gAc	p.A155D	MPST_ENST00000429360.2_5'Flank|MPST_ENST00000341116.3_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.A155D|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000404802.3_5'Flank|MPST_ENST00000397129.1_5'Flank|MPST_ENST00000404393.1_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	155	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|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)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTCCAGTGTGGCTTTGAAGAC	0.597																																						ENST00000403892.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(463-465)gCc>gAc		thiosulfate sulfurtransferase (rhodanese)							72	64	67					22																	37414310		2202	4300	6502	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37414310G>T	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.464C>A	22.37:g.37414310G>T	ENSP00000385828:p.Ala155Asp					TST_ENST00000249042.3_Missense_Mutation_p.A155D	p.A155D	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN			1	1198	-			155			Hinge.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.464C>A	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936890	0.92458	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.48201	0.82;0.82	4.99	4.99	0.66335	Rhodanese-like (3);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.81389	-0.0955	10	0.87932	D	0	-18.0486	18.2954	0.90145	0.0:0.0:1.0:0.0	.	155	Q16762	THTR_HUMAN	D	155	ENSP00000385828:A155D;ENSP00000249042:A155D	ENSP00000249042:A155D	A	-	2	0	TST	35744256	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.454000	0.97621	2.297000	0.77311	0.561000	0.74099	GCC		0.597	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			25	52	1	0	2.48779e-11	1	2.57826e-11	25	52					T	37414310	G	T	37414310	3	4	487	1	0	0	0	0	1	0	0	0	16670	1203	42	4	437	4	TST	22	37414310	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	6081745	37414310	13890256	39	39528											
ATG4A	115201	broad.mit.edu	37	chrX	107381181	107381181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgccccttcgcctggGcataaaccaaatcaatcctg	7	14	1	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:107381181G>A	ENST00000372232.3	+	8	854	c.695G>A	c.(694-696)gGc>gAc	p.G232D	ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	232					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)	p.G232D(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CTTCGCCTGGGCATAAACCAA	0.522																																						ENST00000372232.3																			2	Substitution - Missense(2)	p.G232D(2)	prostate(2)	endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(694-696)gGc>gAc		autophagy related 4A, cysteine peptidase							220	194	203					X																	107381181		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107381181G>A	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"AUT-like 2, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog A (S. cerevisiae)", "ATG4 autophagy related 4 homolog A (S. cerevisiae)"	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.695G>A	X.37:g.107381181G>A	ENSP00000361306:p.Gly232Asp					ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000345734.3_Intron	p.G232D	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			8	854	+			232					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.695G>A	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.464901|4.464901	0.84425|0.84425	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000372254;ENST00000457035	.|D;D	.|0.84442	.|-1.85;-1.63	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95481|0.95481	0.8532|0.8532	H|H	0.97540|0.97540	4.025|4.025	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97312|0.97312	0.9938|0.9938	5|10	.|0.87932	.|D	.|0	-8.3719|-8.3719	18.0738|18.0738	0.89421|0.89421	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|232	.|Q8WYN0	.|ATG4A_HUMAN	T|D	205|232;208;155	.|ENSP00000361306:G232D;ENSP00000361328:G208D	.|ENSP00000341833:G181D	A|G	+|+	1|2	0|0	ATG4A|ATG4A	107267837|107267837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.842000|7.842000	0.86851|0.86851	2.204000|2.204000	0.70986|0.70986	0.600000|0.600000	0.82982|0.82982	GCA|GGC		0.522	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		5	295	0	0	0	1	0	5	295					A	107381181	G	A	107381181	3	1	487	1	0	0	0	0	1	0	0	0	1096	1203	42	2	725	2	ATG4A	23	107381181	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		107381181	47889379	40	39529											
LUZP4	51213	broad.mit.edu	37	chrX	114541285	114541285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggccactgagagagaTctcataaatcagtcagggag	12	9	3	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:114541285T>G	ENST00000371920.3	+	4	865	c.858T>G	c.(856-858)gaT>gaG	p.D286E	LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	286						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTGAGAGAGATCTCATAAATC	0.418																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(856-858)gaT>gaG		leucine zipper protein 4							77	70	72					X																	114541285		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541285T>G	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.858T>G	X.37:g.114541285T>G	ENSP00000360988:p.Asp286Glu					LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E	p.D286E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	865	+			286					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.858T>G	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	t	9.599	1.128086	0.20959	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.51817	0.69;1.38	2.72	1.52	0.23074	.	.	.	.	.	T	0.32041	0.0816	N	0.08118	0	0.09310	N	1	D;D	0.58268	0.974;0.982	P;P	0.54026	0.74;0.702	T	0.11743	-1.0575	9	0.18276	T	0.48	.	4.4514	0.11623	0.0:0.3236:0.0:0.6764	.	204;286	B3KSD6;Q9P127	.;LUZP4_HUMAN	E	204;286	ENSP00000411212:D204E;ENSP00000360988:D286E	ENSP00000360988:D286E	D	+	3	2	LUZP4	114447541	0.002000	0.14202	0.006000	0.13384	0.104000	0.19210	0.951000	0.29135	0.218000	0.20820	0.143000	0.16000	GAT		0.418	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		4	135	0	0	0	1	0	4	135					G	114541285	T	G	114541285	3	3	487	1	0	0	0	0	1	0	0	0	9088	1432	50	5	872	5	LUZP4	23	114541285	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08	7160104	114541285	40729275	41	39530											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908038	12908038	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccatacttggaaaagatCgcctccacatccgatttctt	6	12	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473																																						ENST00000317869.6																			1	Substitution - coding silent(1)	p.A35A(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(103-105)gcG>gcA		heterogeneous nuclear ribonucleoprotein C-like 1							166	154	158					1																	12908038		2203	4300	6503	SO:0001819	synonymous_variant	343069							g.chr1:12908038C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.105G>A	1.37:g.12908038C>T							p.A35A	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	330	-								B2RP44	Silent	SNP	ENST00000317869.6	37	c.105G>A	CCDS30591.1																																																																																				0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		7	173	0	0	0	1	0	7	173					T	12908038	C	T	12908038	2	4	488	1	0	0	0	0	0	0	0	1	7263	871	31	1		1	HNRNPCL1	1	12908038	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		12908038	236342583	1	39531											
COL9A2	1298	broad.mit.edu	37	chr1	40781308	40781308	+	Frame_Shift_Del	DEL	G	G	-													ccggcggtcccgggggacccGgggggccccgctctcccggt							TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:40781308delG	ENST00000372748.3	-	2	200	c.104delC	c.(103-105)ccgfs	p.P35fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	35	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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;2.08e-17)			CGGGGGACCCGGGGGGCCCCG	0.682																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(103-105)cgfs		collagen, type IX, alpha 2							5	5	5					1																	40781308		2026	3967	5993	SO:0001589	frameshift_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40781308delG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.104delC	1.37:g.40781308delG	ENSP00000361834:p.Pro35fs						p.P35fs	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		2	200	-	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)	35			Triple-helical region 4 (COL4).		B2RMP9	Frame_Shift_Del	DEL	ENST00000372748.3	37	c.104delC	CCDS450.1																																																																																				0.682	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		2	4						2	4	---	---	---	---	-	40781308	G	-	40781308	7	5	488	1	0	1	0	1	0	0	0	0	3708	1116	39	0	2089	0	COL9A2	1	40781308	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RP-01A-21D-A34A-08	27873270	40781308	208469313	2	39532											
KIAA1804	84451	broad.mit.edu	37	chr1	233518415	233518415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgaggagcaaaaccagCcggccatctatatatgaact	9	9	1	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:233518415C>T	ENST00000366624.3	+	10	3330	c.3069C>T	c.(3067-3069)agC>agT	p.S1023S	MLK4_ENST00000366622.1_Silent_p.S469S	NM_032435.2	NP_115811.2																					GCAAAACCAGCCGGCCATCTA	0.423																																						ENST00000366624.3																			0											c.(3067-3069)agC>agT									75	65	68					1																	233518415		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233518415C>T																												ENST00000366624.3:c.3069C>T	1.37:g.233518415C>T						MLK4_ENST00000366622.1_Silent_p.S469S	p.S1023S	NM_032435.2	NP_115811.2					10	3330	+									Silent	SNP	ENST00000366624.3	37	c.3069C>T	CCDS1598.1																																																																																				0.423	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			4	51	0	0	0	1	0	4	51					T	233518415	C	T	233518415	2	4	488	1	0	0	0	0	0	0	0	1	8259	738	26	2		2	KIAA1804	1	233518415	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	192737107	233518415	15732206	3	39533											
RYR2	6262	broad.mit.edu	37	chr1	237729966	237729966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggacggtggtattttgaatTtgagacggtcactgctggag	15	6	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:237729966T>C	ENST00000366574.2	+	28	3631	c.3314T>C	c.(3313-3315)tTt>tCt	p.F1105S	RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S|RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1105	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			TATTTTGAATTTGAGACGGTC	0.557																																						ENST00000366574.2																			0				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						c.(3313-3315)tTt>tCt		ryanodine receptor 2 (cardiac)							167	167	167					1																	237729966		1996	4161	6157	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729966T>C	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.3314T>C	1.37:g.237729966T>C	ENSP00000355533:p.Phe1105Ser					RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S|RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S	p.F1105S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3631	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1105			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3314T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	30	5.057453	0.93846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60797	0.16;0.16;0.16	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.085402	0.48767	D	0.000178	T	0.66499	0.2795	M	0.85373	2.75	0.80722	D	1	P	0.42584	0.784	B	0.42495	0.389	T	0.74284	-0.3715	10	0.87932	D	0	.	15.4443	0.75216	0.0:0.0:0.0:1.0	.	1105	Q92736	RYR2_HUMAN	S	1105;1103;1089	ENSP00000355533:F1105S;ENSP00000353174:F1103S;ENSP00000443798:F1089S	ENSP00000353174:F1103S	F	+	2	0	RYR2	235796589	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.928000	0.87587	2.052000	0.61016	0.533000	0.62120	TTT		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	151	0	0	0	1	0	22	151					C	237729966	T	C	237729966	3	2	488	1	0	0	0	0	1	0	0	0	13769	1841	64	3	3424	3	RYR2	1	237729966	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	4211551	237729966	11520655	4	39534											
SOS1	6654	broad.mit.edu	37	chr2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccacagctactctttcttCtaaattttcagtttctacaa	2	12	5	0	rs397517159		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:39234309C>T	ENST00000426016.1	-	17	2622	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	SOS1_ENST00000402219.2_Missense_Mutation_p.E846K|SOS1_ENST00000395038.2_Missense_Mutation_p.E846K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	846	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		E -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E846K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308									Noonan syndrome																													ENST00000426016.1																			1	Substitution - Missense(1)	p.E846K(1)	urinary_tract(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75	GRCh37	CM070272	SOS1	M		c.(2536-2538)Gaa>Aaa		son of sevenless homolog 1 (Drosophila)							107	114	111					2																	39234309		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234309C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2536G>A	2.37:g.39234309C>T	ENSP00000387784:p.Glu846Lys					SOS1_ENST00000395038.2_Missense_Mutation_p.E846K|SOS1_ENST00000402219.2_Missense_Mutation_p.E846K	p.E846K			Q07889	SOS1_HUMAN			17	2622	-		all_hematologic(82;0.21)	846		E -> K (in NS4).	Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2536G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068798	0.76301	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.27720	1.65;1.65;1.65	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	N	0.04260	-0.245	0.80722	D	1	B	0.29253	0.239	B	0.39706	0.307	T	0.21211	-1.0252	10	0.33141	T	0.24	.	19.7147	0.96110	0.0:1.0:0.0:0.0	.	846	Q07889	SOS1_HUMAN	K	846;846;578;846;846	ENSP00000387784:E846K;ENSP00000384675:E846K;ENSP00000378479:E846K	ENSP00000263879:E846K	E	-	1	0	SOS1	39087813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.694000	0.84235	2.660000	0.90430	0.603000	0.83216	GAA		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		13	124	0	0	0	1	0	13	124					T	39234309	C	T	39234309	3	4	488	1	0	0	0	0	1	0	0	0	14936	922	32	2	1497	2	SOS1	2	39234309	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		39234309	203965064	5	39535											
CRYGA	1418	broad.mit.edu	37	chr2	209027942	209027942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacatgaggaattatacGgcaggattggaccgagtcgc	12	9	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:209027942G>A	ENST00000304502.4	-	2	257	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	80	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGAATTATACGGCAGGATTGG	0.493																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(238-240)Cgt>Tgt		crystallin, gamma A							69	73	72					2																	209027942		2203	4300	6503	SO:0001583	missense	1418							g.chr2:209027942G>A		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"gamma crystallin 5"	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.238C>T	2.37:g.209027942G>A	ENSP00000302105:p.Arg80Cys						p.R80C	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	2	257	-								Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.238C>T	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	G	8.480	0.859533	0.17178	.	.	ENSG00000168582	ENST00000304502	D	0.83163	-1.69	4.64	3.73	0.42828	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.171461	0.50627	D	0.000117	D	0.86653	0.5984	M	0.91038	3.17	0.80722	D	1	P	0.52316	0.952	P	0.45971	0.499	D	0.87601	0.2497	10	0.56958	D	0.05	.	9.9417	0.41585	0.0:0.0:0.6304:0.3696	.	80	P11844	CRGA_HUMAN	C	80	ENSP00000302105:R80C	ENSP00000302105:R80C	R	-	1	0	CRYGA	208736187	0.778000	0.28640	0.850000	0.33497	0.185000	0.23345	0.947000	0.29082	1.244000	0.43870	0.655000	0.94253	CGT		0.493	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		9	49	0	0	0	1	0	9	49					A	209027942	G	A	209027942	3	1	488	1	0	0	0	0	1	0	0	0	3914	1116	39	1	294	1	CRYGA	2	209027942	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	169793633	209027942	34171431	6	39536											
TOP2B	7155	broad.mit.edu	37	chr3	25670393	25670393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatatgttttttccattcGtcaaattcaggaatactgta	5	7	3	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:25670393G>A	ENST00000264331.4	-	15	1850	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	TOP2B_ENST00000435706.2_Silent_p.D612D	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	617					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TTTTCCATTCGTCAAATTCAG	0.264																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1834-1836)gaC>gaT		topoisomerase (DNA) II beta 180kDa							52	50	51					3																	25670393		1789	4052	5841	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25670393G>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1851C>T	3.37:g.25670393G>A						TOP2B_ENST00000264331.4_Silent_p.D617D	p.D612D			Q02880	TOP2B_HUMAN			15	2037	-			617					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.1836C>T																																																																																					0.264	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				4	60	0	0	0	1	0	4	60					A	25670393	G	A	25670393	2	1	488	1	0	0	0	0	0	0	0	1	16363	1136	40	1		1	TOP2B	3	25670393	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		25670393	172352037	7	39537											
CACNA2D3	55799	broad.mit.edu	37	chr3	54615867	54615867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtggaaccttgcctgaAtggaactttggtgcaagccg	12	9	0	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:54615867A>G	ENST00000474759.1	+	9	974	c.926A>G	c.(925-927)aAt>aGt	p.N309S	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	309	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CCTTGCCTGAATGGAACTTTG	0.448																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(925-927)aAt>aGt		calcium channel, voltage-dependent, alpha 2/delta subunit 3							92	93	93					3																	54615867		1881	4106	5987	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54615867A>G	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.926A>G	3.37:g.54615867A>G	ENSP00000419101:p.Asn309Ser					CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S	p.N309S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	9	974	+			309			VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.926A>G	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462530	0.63513	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.99	4.84	0.62591	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.25286	0.73	0.38552	D	0.949474	P	0.42161	0.772	P	0.46758	0.526	T	0.10497	-1.0627	10	0.42905	T	0.14	.	10.5238	0.44936	0.9277:0.0:0.0723:0.0	.	309	Q8IZS8	CA2D3_HUMAN	S	309;309;309;215;215;214	ENSP00000389506:N309S;ENSP00000419101:N309S;ENSP00000288197:N309S;ENSP00000417279:N215S	ENSP00000288197:N309S	N	+	2	0	CACNA2D3	54590907	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.747000	0.85070	1.100000	0.41517	0.533000	0.62120	AAT		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			3	38	0	0	0	1	0	3	38					G	54615867	A	G	54615867	3	3	488	1	0	0	0	0	1	0	0	0	2550	101	4	3	960	3	CACNA2D3	3	54615867	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	28945474	54615867	143406563	8	39538											
B4GALT4	8702	broad.mit.edu	37	chr3	118935161	118935161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacccacttcaggcaggggCcgggaaattttcattctttg	10	10	3	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:118935161C>T	ENST00000483209.1	-	7	1469	c.828G>A	c.(826-828)cgG>cgA	p.R276R	B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000467604.1_Silent_p.R276R|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.R276R			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	276					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)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGGCAGGGGCCGGGAAATTT	0.418																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(826-828)cgG>cgA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						102	101	101					3																	118935161		2203	4300	6503	SO:0001819	synonymous_variant	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118935161C>T	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.828G>A	3.37:g.118935161C>T						B4GALT4_ENST00000393765.2_Silent_p.R276R|B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.R276R	p.R276R			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	7	1219	-			276					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.828G>A	CCDS2986.1																																																																																				0.418	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		10	73	0	0	0	1	0	10	73					T	118935161	C	T	118935161	2	4	488	1	0	0	0	0	0	0	0	1	1273	726	26	2		2	B4GALT4	3	118935161	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	64319294	118935161	79087269	9	39539											
DNAJC13	23317	broad.mit.edu	37	chr3	132207208	132207208	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttataccatatcatgcaaGataacccacagttaccccgc	5	13	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:132207208G>A	ENST00000260818.6	+	30	3582	c.3334G>A	c.(3334-3336)Gat>Aat	p.D1112N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1112					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCATGCAAGATAACCCACA	0.373																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3334-3336)Gat>Aat		DnaJ (Hsp40) homolog, subfamily C, member 13							116	107	110					3																	132207208		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132207208G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3334G>A	3.37:g.132207208G>A	ENSP00000260818:p.Asp1112Asn						p.D1112N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			30	3582	+			1112					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3334G>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650534	0.96714	.	.	ENSG00000138246	ENST00000260818	T	0.50548	0.74	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74377	-0.3685	10	0.62326	D	0.03	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	1112	O75165	DJC13_HUMAN	N	1112	ENSP00000260818:D1112N	ENSP00000260818:D1112N	D	+	1	0	DNAJC13	133689898	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.374000	0.97172	2.728000	0.93425	0.650000	0.86243	GAT		0.373	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		13	69	0	0	0	1	0	13	69					A	132207208	G	A	132207208	3	1	488	1	0	0	0	0	1	0	0	0	4632	942	33	2	3448	2	DNAJC13	3	132207208	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	13272047	132207208	65815222	10	39540											
EIF4A2	1974	broad.mit.edu	37	chr3	186501416	186501416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatgtctggtggctccgCggattataacaggtatgcag	13	8	2	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:186501416C>T	ENST00000323963.5	+	1	81	c.17C>T	c.(16-18)gCg>gTg	p.A6V	SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	6					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)		GGTGGCTCCGCGGATTATAAC	0.567			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"eukaryotic translation initiation factor 4A, isoform 2"			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(16-18)gCg>gTg		eukaryotic translation initiation factor 4A2							135	139	138					3																	186501416		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186501416C>T	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.17C>T	3.37:g.186501416C>T	ENSP00000326381:p.Ala6Val					RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V	p.A6V			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	1	81	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		6					D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.17C>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263484	0.59431	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.32272	1.46;1.67;1.63	4.48	4.48	0.54585	.	0.925624	0.09173	N	0.838525	T	0.16811	0.0404	N	0.08118	0	0.80722	D	1	B;P	0.34724	0.153;0.465	B;B	0.24006	0.05;0.014	T	0.13737	-1.0498	10	0.29301	T	0.29	-25.8385	15.0416	0.71796	0.0:1.0:0.0:0.0	.	6;6	Q14240-2;Q14240	.;IF4A2_HUMAN	V	6	ENSP00000415878:A6V;ENSP00000326381:A6V;ENSP00000398370:A6V	ENSP00000326381:A6V	A	+	2	0	EIF4A2	187984110	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.933000	0.75874	2.475000	0.83589	0.563000	0.77884	GCG		0.567	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		4	113	0	0	0	1	0	4	113					T	186501416	C	T	186501416	3	4	488	1	0	0	0	0	1	0	0	0	5025	768	27	1	19	1	EIF4A2	3	186501416	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	54294208	186501416	11521014	11	39541											
ATP13A3	79572	broad.mit.edu	37	chr3	194154513	194154513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctaacctgtgaccatgaCggtgcgaatgttggctttat	11	8	1	2	rs138465420	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:194154513C>T	ENST00000439040.1	-	21	3024	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	745						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGACCATGACGGTGCGAATG	0.348													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15941	0.0		0.0	False		,,,				2504	0.0					ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2233-2235)Gtc>Atc		ATPase type 13A3		C	ILE/VAL	3,3709		0,3,1853	165	151	155		2233	5.9	1	3	dbSNP_134	155	1,8193		0,1,4096	yes	missense	ATP13A3	NM_024524.3	29	0,4,5949	TT,TC,CC		0.0122,0.0808,0.0336	benign	745/1227	194154513	4,11902	1856	4097	5953	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194154513C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2233G>A	3.37:g.194154513C>T	ENSP00000416508:p.Val745Ile					ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I	p.V745I			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	3024	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	745					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2233G>A	CCDS43187.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	33	5.201095	0.94997	8.08E-4	1.22E-4	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.69306	-0.39;-0.39	5.86	5.86	0.93980	HAD-like domain (2);	0.115927	0.56097	D	0.000021	T	0.65698	0.2716	L	0.38953	1.18	0.80722	D	1	P	0.46395	0.877	P	0.46758	0.526	T	0.60265	-0.7297	10	0.26408	T	0.33	-1.0442	20.1802	0.98196	0.0:1.0:0.0:0.0	.	745	Q9H7F0	AT133_HUMAN	I	745;745;483	ENSP00000416508:V745I;ENSP00000256031:V745I	ENSP00000256031:V745I	V	-	1	0	ATP13A3	195635802	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.853000	0.62911	2.777000	0.95525	0.655000	0.94253	GTC		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		15	103	0	0	0	1	0	15	103					T	194154513	C	T	194154513	3	4	488	1	0	0	0	0	1	0	0	0	1125	536	19	1	1499	1	ATP13A3	3	194154513	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	7653097	194154513	3867917	12	39542											
SH3TC1	54436	broad.mit.edu	37	chr4	8218826	8218826	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaacagactcttcaccgccGagccccagcgtgtcctccga	9	17	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:8218826G>A	ENST00000245105.3	+	7	838	c.771G>A	c.(769-771)ccG>ccA	p.P257P	SH3TC1_ENST00000539824.1_Silent_p.P181P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	257										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTCACCGCCGAGCCCCAGCG	0.672																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(541-543)ccG>ccA		SH3 domain and tetratricopeptide repeats 1							18	23	21					4																	8218826		2201	4298	6499	SO:0001819	synonymous_variant	54436						binding	g.chr4:8218826G>A	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.771G>A	4.37:g.8218826G>A						SH3TC1_ENST00000245105.3_Silent_p.P257P	p.P181P			Q8TE82	S3TC1_HUMAN			7	917	+			257					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.543G>A	CCDS3399.1																																																																																				0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		7	27	0	0	0	1	0	7	27					A	8218826	G	A	8218826	2	1	488	1	0	0	0	0	0	0	0	1	14261	1045	37	1		1	SH3TC1	4	8218826	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		8218826	182935450	13	39543											
HS3ST1	9957	broad.mit.edu	37	chr4	11401216	11401216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcagcagccggatggaCgggttcatgctgtagactcg	15	9	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:11401216C>T	ENST00000002596.5	-	2	1588	c.414G>A	c.(412-414)ccG>ccA	p.P138P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	138					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGGATGGACGGGTTCATGC	0.592																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(412-414)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							62	60	61					4																	11401216		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401216C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.414G>A	4.37:g.11401216C>T							p.P138P	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1588	-			138					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.414G>A	CCDS3408.1																																																																																				0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		5	47	0	0	0	1	0	5	47					T	11401216	C	T	11401216	2	4	488	1	0	0	0	0	0	0	0	1	7363	523	19	1		1	HS3ST1	4	11401216	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	3182390	11401216	179753060	14	39544											
IL8	3576	broad.mit.edu	37	chr4	74607730	74607730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactgggtgcagagggttGtggagaagtttttgaagagg	17	2	0	4			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:74607730G>T	ENST00000307407.3	+	3	418	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	IL8_ENST00000401931.1_Missense_Mutation_p.V89L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		89					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		GCAGAGGGTTGTGGAGAAGTT	0.328																																						ENST00000307407.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6						c.(265-267)Gtg>Ttg		interleukin 8	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)						56	63	61					4																	74607730		2187	4296	6483	SO:0001583	missense	0				angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding	g.chr4:74607730G>T																												ENST00000307407.3:c.265G>T	4.37:g.74607730G>T	ENSP00000306512:p.Val89Leu					IL8_ENST00000401931.1_Missense_Mutation_p.V89L	p.V89L	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	3	418	+	Breast(15;0.00102)		89					B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	c.265G>T	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	G	9.825	1.186732	0.21870	.	.	ENSG00000169429	ENST00000307407;ENST00000401931	T;T	0.04275	3.66;3.66	5.27	2.46	0.29980	Chemokine interleukin-8-like domain (3);	0.156412	0.56097	D	0.000034	T	0.03608	0.0103	.	.	.	0.09310	N	0.999996	B;B	0.20550	0.046;0.008	B;B	0.22601	0.04;0.028	T	0.34800	-0.9814	9	0.59425	D	0.04	-10.939	3.8636	0.09007	0.273:0.1839:0.5431:0.0	.	89;89	C9J4T6;P10145	.;IL8_HUMAN	L	89	ENSP00000306512:V89L;ENSP00000385908:V89L	ENSP00000306512:V89L	V	+	1	0	IL8	74826594	0.713000	0.27926	0.826000	0.32828	0.511000	0.34104	0.999000	0.29757	1.364000	0.46038	-0.142000	0.14014	GTG		0.328	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1			4	55	1	0	1.23904e-05	1	1.33435e-05	4	55					T	74607730	G	T	74607730	3	4	488	1	0	0	0	0	1	0	0	0	7706	1377	48	4	275	4	IL8	4	74607730	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	63206514	74607730	116546546	15	39545											
GPRIN3	285513	broad.mit.edu	37	chr4	90171145	90171145	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattggcattcttacacagGagagctggtcgatgccgagg	13	10	1	1	rs534376091		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:90171145G>A	ENST00000609438.1	-	2	635	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPRIN3_ENST00000333209.4_Silent_p.L39L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	39			L -> V (in dbSNP:rs11734353).							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)		TCTTACACAGGAGAGCTGGTC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18817	0.0		0.0	False		,,,				2504	0.0					ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(115-117)ctC>ctT		GPRIN family member 3							63	66	65					4																	90171145		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90171145G>A	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.117C>T	4.37:g.90171145G>A							p.L39L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	635	-		Hepatocellular(203;0.114)	39		L -> V (in dbSNP:rs11734353).			Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.117C>T	CCDS34030.1																																																																																				0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		4	69	0	0	0	1	0	4	69					A	90171145	G	A	90171145	2	1	488	1	0	0	0	0	0	0	0	1	6731	1161	41	2		2	GPRIN3	4	90171145	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	15563415	90171145	100983131	16	39546											
FAM190A	401145	broad.mit.edu	37	chr4	91549203	91549203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgaaattaacaaaggaCgttgatcaagaagccaggtg	10	8	1	3	rs559086817		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:91549203C>T	ENST00000509176.1	+	6	2040	c.1752C>T	c.(1750-1752)gaC>gaT	p.D584D	CCSER1_ENST00000333691.8_Silent_p.D584D|CCSER1_ENST00000432775.2_Silent_p.D584D	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	584								p.D586D(1)|p.D584D(1)									TAACAAAGGACGTTGATCAAG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17511	0.0		0.0	False		,,,				2504	0.001					ENST00000509176.1																			2	Substitution - coding silent(2)	p.D586D(1)|p.D584D(1)	large_intestine(2)								c.(1750-1752)gaC>gaT		coiled-coil serine-rich protein 1							83	80	81					4																	91549203		1872	4117	5989	SO:0001819	synonymous_variant	401145							g.chr4:91549203C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1752C>T	4.37:g.91549203C>T						CCSER1_ENST00000333691.8_Silent_p.D584D|CCSER1_ENST00000432775.2_Silent_p.D584D	p.D584D	NM_001145065.1	NP_001138537.1					6	2040	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1752C>T	CCDS47099.1																																																																																				0.418	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		7	54	0	0	0	1	0	7	54					T	91549203	C	T	91549203	2	4	488	1	0	0	0	0	0	0	0	1	5521	535	19	1		1	FAM190A	4	91549203	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	1378058	91549203	99605073	17	39547											
ADAMTS16	170690	broad.mit.edu	37	chr5	5242305	5242305	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgtcctgcggaggggGtaggtgccttccagtgctgc	16	12	0	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:5242305G>A	ENST00000274181.7	+	17	2800		c.e17+1			NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						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						TGCGGAGGGGGTAGGTGCCTT	0.627																																						ENST00000274181.7																			0				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						c.e17+1		ADAM metallopeptidase with thrombospondin type 1 motif, 16							38	43	41					5																	5242305		2123	4234	6357	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242305G>A	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.2662+1G>A	5.37:g.5242305G>A								NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			17	2800	+								C6G490|Q8IVE2	Splice_Site	SNP	ENST00000274181.7	37		CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198380	0.79015	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.077	0.89430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS16	5295305	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.275000	0.89892	2.554000	0.86153	0.650000	0.86243	.		0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	Intron	5	33	0	0	0	1	0	5	33					A	5242305	G	A	5242305	5	1	488	1	0	0	0	0	0	0	1	0	261	1275	44	2	2729	2	ADAMTS16	5	5242305	Splice_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		5242305	175672955	18	39548											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712371	140712371	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcgtcttcctggcctTcgtcatcgtgctgctggcgc	11	16	2	0	rs532160123		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:140712371T>G	ENST00000517417.1	+	1	2120	c.2120T>G	c.(2119-2121)tTc>tGc	p.F707C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	707					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(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGCCTTCGTCATCGTG	0.662																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2119-2121)tTc>tGc									66	75	72					5																	140712371		2203	4298	6501	SO:0001583	missense	0							g.chr5:140712371T>G	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2120T>G	5.37:g.140712371T>G	ENSP00000431083:p.Phe707Cys					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C	p.F707C	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2120	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2120T>G	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377591	0.24944	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51817	0.75;0.69	3.87	3.87	0.44632	.	0.000000	0.50627	D	0.000107	T	0.71074	0.3297	M	0.89214	3.015	0.24151	N	0.995694	D;D	0.76494	0.992;0.999	D;D	0.72625	0.978;0.95	T	0.65623	-0.6123	10	0.87932	D	0	.	12.8288	0.57735	0.0:0.0:0.0:1.0	.	707;707	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	707	ENSP00000431083:F707C;ENSP00000367345:F707C	ENSP00000367345:F707C	F	+	2	0	PCDHGA1	140692555	0.000000	0.05858	0.505000	0.27651	0.010000	0.07245	0.453000	0.21811	1.757000	0.51966	0.477000	0.44152	TTC		0.662	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		5	151	0	0	0	1	0	5	151					G	140712371	T	G	140712371	3	3	488	1	0	0	0	0	1	0	0	0	11550	1783	62	5	2122	5	PCDHGA1	5	140712371	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	135470066	140712371	40202889	19	39549											
DSP	1832	broad.mit.edu	37	chr6	7579661	7579661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcgaagcttgcgagcctgGaggagctgaagagacaggct	16	8	0	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:7579661G>A	ENST00000379802.3	+	23	3579	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	DSP_ENST00000418664.2_Missense_Mutation_p.E1080K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1080	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)		TGCGAGCCTGGAGGAGCTGAA	0.478																																						ENST00000379802.3																			0				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						c.(3238-3240)Gag>Aag		desmoplakin							81	84	83					6																	7579661		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579661G>A	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.3238G>A	6.37:g.7579661G>A	ENSP00000369129:p.Glu1080Lys					DSP_ENST00000418664.2_Missense_Mutation_p.E1080K	p.E1080K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3579	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1080			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3238G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062139	0.93846	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92858	-3.12;-3.12	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	D	0.87529	0.6200	L	0.32530	0.975	0.51233	D	0.999916	B;D	0.56968	0.252;0.978	B;P	0.47981	0.051;0.563	D	0.85629	0.1269	10	0.24483	T	0.36	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	1127;1080	Q4LE79;P15924	.;DESP_HUMAN	K	1080;1080;885	ENSP00000369129:E1080K;ENSP00000396591:E1080K	ENSP00000369129:E1080K	E	+	1	0	DSP	7524660	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.295000	0.72744	2.674000	0.91012	0.555000	0.69702	GAG		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		4	63	0	0	0	1	0	4	63					A	7579661	G	A	7579661	3	1	488	1	0	0	0	0	1	0	0	0	4781	1175	41	2	3328	2	DSP	6	7579661	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		7579661	163535406	20	39550											
C6orf25	80740	broad.mit.edu	37	chr6	31691585	31691585	+	5'Flank	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acccccaccgtgcctcccctCcagcctttcgtcggccgcct	7	23	0	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:31691585C>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000375805.2_Silent_p.L77L|C6orf25_ENST00000480039.1_Silent_p.L77L|C6orf25_ENST00000375809.3_Silent_p.L77L|C6orf25_ENST00000375810.4_Silent_p.L77L|LY6G6C_ENST00000495859.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TGCCTCCCCTCCAGCCTTTCG	0.687																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(229-231)ctC>ctA		chromosome 6 open reading frame 25							49	59	56					6																	31691585		2203	4298	6501	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691585C>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691585C>A	Exception_encountered					C6orf25_ENST00000480039.1_Silent_p.L77L|C6orf25_ENST00000375810.4_Silent_p.L77L|C6orf25_ENST00000375805.2_Silent_p.L77L	p.L77L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			2	242	+			77					Q5SRS8|Q8IY94	Silent	SNP	ENST00000375819.2	37	c.231C>A	CCDS4714.1																																																																																				0.687	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			6	83	1	0	3.59834e-05	1	3.81642e-05	6	83					A	31691585	C	A	31691585	1	1	488	0	1	0	0	0	0	0	0	0	2360	842	30	4		4	C6orf25	6	31691585	5'Flank	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	24111924	31691585	139423482	21	39551											
COQ3	51805	broad.mit.edu	37	chr6	99817677	99817680	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													ttatagagcattcctaccacTgtttgaactgacagaccatc					rs112847497		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:99817677_99817680delTGTT	ENST00000254759.3	-	7	930_933	c.906_909delAACA	c.(904-909)caaacafs	p.QT302fs	COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	302					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTCCTACCACTGTTTGAACTGACA	0.368																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(904-909)cafs		coenzyme Q3 methyltransferase																																				SO:0001589	frameshift_variant	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99817677_99817680delTGTT	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.906_909delAACA	6.37:g.99817677_99817680delTGTT	ENSP00000254759:p.Gln302fs					COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs	p.QT302fs	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	7	930_933	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	302					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Frame_Shift_Del	DEL	ENST00000254759.3	37	c.906_909delAACA	CCDS5042.1																																																																																				0.368	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		9	198						9	198	---	---	---	---	-	99817680	TGTT	-	99817677	7	5	488	1	0	1	0	1	0	0	0	0	3746	1567	55	0	204	0	COQ3	6	99817677	Frame_Shift_Del	DEL	TGTT	TCGA-TQ-A7RP-01A-21D-A34A-08	68126092	99817677	71297390	22	39552											
CAMK2B	816	broad.mit.edu	37	chr7	44323782	44323782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgcatactcatggccGgtgcagagcttgacacagcg	13	11	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:44323782G>A	ENST00000395749.2	-	2	184	c.108C>T	c.(106-108)acC>acT	p.T36T	CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	36	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						ACTCATGGCCGGTGCAGAGCT	0.587																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(106-108)acC>acT		calcium/calmodulin-dependent protein kinase II beta							137	108	118					7																	44323782		2202	4300	6502	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44323782G>A	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.108C>T	7.37:g.44323782G>A						CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T	p.T36T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			2	184	-			36			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Silent	SNP	ENST00000395749.2	37	c.108C>T	CCDS5483.1																																																																																				0.587	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		3	30	0	0	0	1	0	3	30					A	44323782	G	A	44323782	2	1	488	1	0	0	0	0	0	0	0	1	2600	1103	39	1		1	CAMK2B	7	44323782	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		44323782	114814881	23	39553											
MYO1G	64005	broad.mit.edu	37	chr7	45007262	45007262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgaagagtgtgccagccGtcagggggcgcttggtcacc	15	11	3	2	rs370788368		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:45007262G>A	ENST00000258787.7	-	14	1860	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	575	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTGCCAGCCGTCAGGGGGCG	0.622																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(1723-1725)aCg>aTg		myosin IG		G	MET/THR	0,4406		0,0,2203	84	82	83		1724	4.5	0.7	7		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO1G	NM_033054.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	575/1019	45007262	1,13005	2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45007262G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1724C>T	7.37:g.45007262G>A	ENSP00000258787:p.Thr575Met						p.T575M	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			14	1860	-			575			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.1724C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109702	0.77096	0.0	1.16E-4	ENSG00000136286	ENST00000258787	D	0.90444	-2.67	5.36	4.48	0.54585	Myosin head, motor domain (2);	0.000000	0.41938	D	0.000787	D	0.95648	0.8585	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96153	0.9109	10	0.87932	D	0	.	13.2238	0.59903	0.0781:0.0:0.9219:0.0	.	575;575	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	575	ENSP00000258787:T575M	ENSP00000258787:T575M	T	-	2	0	MYO1G	44973787	1.000000	0.71417	0.729000	0.30791	0.732000	0.41865	9.560000	0.98139	1.397000	0.46682	0.561000	0.74099	ACG		0.622	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			11	61	0	0	0	1	0	11	61					A	45007262	G	A	45007262	3	1	488	1	0	0	0	0	1	0	0	0	10074	1145	40	1	1368	1	MYO1G	7	45007262	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	683480	45007262	114131401	24	39554											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	8	15	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.R252C(1)		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)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		1	Substitution - Missense(1)	p.R252C(1)	central_nervous_system(1)	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						c.(754-756)Cgc>Tgc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181	144	157					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		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.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C	p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		7	931	+	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)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	60	0	0	0	1	0	5	60					T	55221710	C	T	55221710	3	4	488	1	0	0	0	0	1	0	0	0	4967	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	10214448	55221710	103916953	25	39555											
TRIM24	8805	broad.mit.edu	37	chr7	138223421	138223421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccttgcaaaggaccatcGcatgaaacttatgcaacaac	8	11	0	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:138223421G>A	ENST00000343526.4	+	7	1231	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H			O15164	TIF1A_HUMAN	tripartite motif containing 24	339					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGGACCATCGCATGAAACTT	0.388																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1015-1017)cGc>cAc		tripartite motif containing 24							128	118	121					7																	138223421		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138223421G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1016G>A	7.37:g.138223421G>A	ENSP00000340507:p.Arg339His					TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H|TRIM24_ENST00000497516.1_3'UTR	p.R339H			O15164	TIF1A_HUMAN			7	1231	+			339					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1016G>A	CCDS5847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.548459|4.548459	0.86127|0.86127	.|.	.|.	ENSG00000122779|ENSG00000122779	ENST00000452999|ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	.|T;T	.|0.76968	.|-1.06;-1.04	5.54|5.54	5.54|5.54	0.83059|0.83059	.|B-box, C-terminal (1);	.|0.106313	.|0.64402	.|D	.|0.000005	.|D	.|0.86810	.|0.6022	M|M	0.62723|0.62723	1.935|1.935	0.49051|0.49051	D|D	0.999743|0.999743	.|P;D	.|0.76494	.|0.7;0.999	.|B;D	.|0.69824	.|0.32;0.966	.|D	.|0.87047	.|0.2144	.|10	.|0.59425	.|D	.|0.04	.|-10.9757	19.0827|19.0827	0.93188|0.93188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|339;339	.|O15164;O15164-2	.|TIF1A_HUMAN;.	.|H	-1|339;250;339;297	.|ENSP00000340507:R339H;ENSP00000390829:R339H	.|ENSP00000340507:R339H	.|R	+|+	.|2	.|0	TRIM24|TRIM24	137873961|137873961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.083000|4.083000	0.57643|0.57643	2.602000|2.602000	0.87976|0.87976	0.585000|0.585000	0.79938|0.79938	.|CGC		0.388	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		4	116	0	0	0	1	0	4	116					A	138223421	G	A	138223421	3	1	488	1	0	0	0	0	1	0	0	0	16495	1087	38	1	1042	1	TRIM24	7	138223421	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	83001711	138223421	20915242	26	39556											
TMUB1	83590	broad.mit.edu	37	chr7	150779522	150779522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcgttggggtccctgaCggctggggcagtgggtcccc	19	11	0	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:150779522C>T	ENST00000392818.3	-	2	486	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMUB1_ENST00000476627.1_Silent_p.P43P|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000482202.1_Silent_p.P43P|FASTK_ENST00000353841.2_5'Flank|TMUB1_ENST00000297533.4_Silent_p.P43P|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000462940.1_Silent_p.P43P	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	43						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCCCTGACGGCTGGGGCA	0.677																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(127-129)ccG>ccA		transmembrane and ubiquitin-like domain containing 1							62	70	67					7																	150779522		2203	4299	6502	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779522C>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"chromosome 7 open reading frame 21"	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.129G>A	7.37:g.150779522C>T						TMUB1_ENST00000476627.1_Silent_p.P43P|TMUB1_ENST00000482202.1_Silent_p.P43P|TMUB1_ENST00000462940.1_Silent_p.P43P|TMUB1_ENST00000297533.4_Silent_p.P43P	p.P43P	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	486	-			43					D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.129G>A	CCDS5920.1																																																																																				0.677	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		20	82	0	0	0	1	0	20	82					T	150779522	C	T	150779522	2	4	488	1	0	0	0	0	0	0	0	1	16261	523	19	1		1	TMUB1	7	150779522	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	12556101	150779522	8359141	27	39557											
PCMTD1	115294	broad.mit.edu	37	chr8	52746176	52746176	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagctccacaataaattcGatcatactgatgactgtcag	6	11	2	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:52746176G>A	ENST00000360540.5	-	5	890	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAATAAATTCGATCATACTGA	0.363																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(484-486)Cga>Tga		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							143	129	134					8																	52746176		2203	4300	6503	SO:0001587	stop_gained	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52746176G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.484C>T	8.37:g.52746176G>A	ENSP00000353739:p.Arg162*					PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*|PCMTD1_ENST00000519559.1_5'UTR	p.R162*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			5	890	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	162					Q96FK9	Nonsense_Mutation	SNP	ENST00000360540.5	37	c.484C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252529	0.95336	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	.	.	.	5.2	3.37	0.38596	.	0.124846	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-42.8563	13.0609	0.59005	0.0:0.0:0.5761:0.4239	.	.	.	.	X	162;86;162	.	ENSP00000353739:R162X	R	-	1	2	PCMTD1	52908729	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.651000	0.61447	0.561000	0.29186	-0.293000	0.09583	CGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		7	75	0	0	0	1	0	7	75					A	52746176	G	A	52746176	4	1	488	1	0	0	0	0	0	1	0	0	11586	1066	37	1	601	1	PCMTD1	8	52746176	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		52746176	93617846	28	39558											
PREX2	80243	broad.mit.edu	37	chr8	68956801	68956801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacacggaggtgatggaaGtggagaatgtggatgatggc	17	4	1	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:68956801G>A	ENST00000288368.4	+	8	1196	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	307	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGATGGAAGTGGAGAATGT	0.418																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(919-921)Gtg>Atg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							155	144	148					8																	68956801		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68956801G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.919G>A	8.37:g.68956801G>A	ENSP00000288368:p.Val307Met					PREX2_ENST00000529398.1_3'UTR	p.V307M	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			8	1196	+			307			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.919G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254937	0.95336	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.91068	-2.78	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;0.993;0.952	D	0.95876	0.8895	10	0.87932	D	0	.	19.9946	0.97381	0.0:0.0:1.0:0.0	.	307;307;307	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	M	307	ENSP00000288368:V307M	ENSP00000288368:V307M	V	+	1	0	PREX2	69119355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.797000	0.99108	2.728000	0.93425	0.591000	0.81541	GTG		0.418	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		8	78	0	0	0	1	0	8	78					A	68956801	G	A	68956801	3	1	488	1	0	0	0	0	1	0	0	0	12477	1029	36	2	949	2	PREX2	8	68956801	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	16210625	68956801	77407221	29	39559											
RECQL4	9684	broad.mit.edu	37	chr8	145742489	145742489	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtagtccggcaccgagCcctggcggctccgccctggc	14	19	0	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:145742489C>A	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.G100V|RECQL4_ENST00000532237.1_5'UTR	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	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)			CGGCACCGAGCCCTGGCGGCT	0.672																																						ENST00000428558.2										"N, F, S"						"osteosarcoma, skin basal and sqamous cell"			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(298-300)gGc>gTc	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							26	29	28					8																	145742489		2021	4185	6206	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742489C>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742489C>A	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.G100V	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	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)		4	340	-	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)		100					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.299G>T	CCDS6432.1																																																																																				0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		3	19	1	0	6.4e-05	1	6.68657e-05	3	19					A	145742489	C	A	145742489	1	1	488	0	1	0	0	0	0	0	0	0	13202	739	26	4		4	RECQL4	8	145742489	5'Flank	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	76785688	145742489	621533	30	39560											
C9orf72	203228	broad.mit.edu	37	chr9	27565531	27565531	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatgcaatttgcatatacctGatcttccattctctctgtgc	5	11	3	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:27565531G>A	ENST00000380003.3	-	3	565	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168*|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	168					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCATATACCTGATCTTCCATT	0.353																																						ENST00000380003.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(502-504)Cag>Tag		chromosome 9 open reading frame 72							169	145	153					9																	27565531		2203	4299	6502	SO:0001587	stop_gained	203228							g.chr9:27565531G>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.502C>T	9.37:g.27565531G>A	ENSP00000369339:p.Gln168*					C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168*	p.Q168*	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	3	565	-		all_neural(11;7.57e-10)	168					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Nonsense_Mutation	SNP	ENST00000380003.3	37	c.502C>T	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745360	0.96882	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	.	Q	-	1	0	C9orf72	27555531	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.404000	0.52623	2.840000	0.97914	0.655000	0.94253	CAG		0.353	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		7	59	0	0	0	1	0	7	59					A	27565531	G	A	27565531	4	1	488	1	0	0	0	0	0	1	0	0	2495	1299	45	2	983	2	C9orf72	9	27565531	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		27565531	113647900	31	39561											
GNA14	9630	broad.mit.edu	37	chr9	80046294	80046294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgatgccggtggtgggcactCggacgcgaagcacatcttgt	15	10	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:80046294C>G	ENST00000341700.6	-	4	1049	c.536G>C	c.(535-537)cGa>cCa	p.R179P	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	179					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|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)	p.R179Q(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGTGGGCACTCGGACGCGAAG	0.493																																						ENST00000341700.6																			1	Substitution - Missense(1)	p.R179Q(1)	skin(1)	endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(535-537)cGa>cCa		guanine nucleotide binding protein (G protein), alpha 14							198	163	175					9																	80046294		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80046294C>G	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.536G>C	9.37:g.80046294C>G	ENSP00000365807:p.Arg179Pro					GNA14_ENST00000464095.1_5'UTR	p.R179P	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			4	1049	-			179					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.536G>C	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989792	0.93106	.	.	ENSG00000156049	ENST00000341700	D	0.91945	-2.94	5.42	5.42	0.78866	G protein alpha subunit, helical insertion (1);	0.123533	0.53938	D	0.000043	D	0.98175	0.9397	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	19.1675	0.93562	0.0:1.0:0.0:0.0	.	179	O95837	GNA14_HUMAN	P	179	ENSP00000365807:R179P	ENSP00000365807:R179P	R	-	2	0	GNA14	79236114	1.000000	0.71417	0.986000	0.45419	0.776000	0.43924	4.891000	0.63185	2.705000	0.92388	0.655000	0.94253	CGA		0.493	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			12	38	0	0	0	1	0	12	38					G	80046294	C	G	80046294	3	3	488	1	0	0	0	0	1	0	0	0	6502	884	31	4	547	4	GNA14	9	80046294	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	52480763	80046294	61167137	32	39562											
PTPDC1	138639	broad.mit.edu	37	chr9	96859862	96859862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcacgacttctgaaacaCgtgccaaaaattatccacct	7	12	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:96859862C>T	ENST00000375360.3	+	7	1192	c.852C>T	c.(850-852)caC>caT	p.H284H	PTPDC1_ENST00000288976.3_Silent_p.H336H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	284					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						TTCTGAAACACGTGCCAAAAA	0.478																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(850-852)caC>caT		protein tyrosine phosphatase domain containing 1							104	100	101					9																	96859862		2203	4300	6503	SO:0001819	synonymous_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859862C>T	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.852C>T	9.37:g.96859862C>T						PTPDC1_ENST00000288976.3_Silent_p.H336H	p.H284H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1192	+			284					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.852C>T	CCDS6707.1																																																																																				0.478	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		9	83	0	0	0	1	0	9	83					T	96859862	C	T	96859862	2	4	488	1	0	0	0	0	0	0	0	1	12773	535	19	1		1	PTPDC1	9	96859862	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	16813568	96859862	44353569	33	39563											
CEL	1056	broad.mit.edu	37	chr9	135939834	135939834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggttcgtggaaggcgtcaAtaagaagctcggcctcctgg	15	9	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:135939834A>G	ENST00000372080.4	+	2	135	c.119A>G	c.(118-120)aAt>aGt	p.N40S	CEL_ENST00000351304.7_Missense_Mutation_p.N37S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	37	Heparin-binding.				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)		GAAGGCGTCAATAAGAAGCTC	0.627																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(118-120)aAt>aGt		carboxyl ester lipase							89	101	97					9																	135939834		2052	4198	6250	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135939834A>G	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.119A>G	9.37:g.135939834A>G	ENSP00000361151:p.Asn40Ser					CEL_ENST00000351304.7_Missense_Mutation_p.N37S	p.N40S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		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)	2	135	+			37			Heparin-binding.		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.119A>G	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321932	0.41096	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.66099	-0.19;-0.19	4.97	4.97	0.65823	Carboxylesterase, type B (1);	0.221461	0.53938	D	0.000059	T	0.30448	0.0765	N	0.02357	-0.585	0.34115	D	0.663462	P	0.47677	0.899	B	0.37015	0.239	T	0.45469	-0.9259	10	0.32370	T	0.25	.	8.5009	0.33156	0.9117:0.0:0.0883:0.0	.	37	P19835	CEL_HUMAN	S	40;37;40	ENSP00000361151:N40S;ENSP00000342217:N37S	ENSP00000304021:N40S	N	+	2	0	CEL	134929655	0.994000	0.37717	0.975000	0.42487	0.344000	0.29017	0.892000	0.28322	1.991000	0.58162	0.459000	0.35465	AAT		0.627	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			6	57	0	0	0	1	0	6	57					G	135939834	A	G	135939834	3	3	488	1	0	0	0	0	1	0	0	0	3209	101	4	3	125	3	CEL	9	135939834	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	39079972	135939834	5273597	34	39564											
C10orf10	11067	broad.mit.edu	37	chr10	45473358	45473358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcgagatatagacctcaCgtagtcatccaggctaggag	11	10	2	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:45473358C>T	ENST00000298295.3	-	2	338	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	41						mitochondrion (GO:0005739)				lung(1)	1						ATAGACCTCACGTAGTCATCC	0.662																																						ENST00000298295.3																			0				lung(1)	1						c.(121-123)Gtg>Atg		chromosome 10 open reading frame 10							55	56	55					10																	45473358		2201	4299	6500	SO:0001583	missense	11067					mitochondrion		g.chr10:45473358C>T	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.121G>A	10.37:g.45473358C>T	ENSP00000298295:p.Val41Met					RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron	p.V41M	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	338	-			41					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.121G>A	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867319	0.51588	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.58940	0.3;0.3	5.69	3.86	0.44501	.	0.000000	0.42420	D	0.000703	T	0.60869	0.2302	L	0.36672	1.1	0.31028	N	0.7178	D	0.71674	0.998	P	0.61722	0.893	T	0.64232	-0.6456	10	0.87932	D	0	-18.1925	8.9623	0.35854	0.0:0.8461:0.0:0.1539	.	41	Q9NTK1	DEPP_HUMAN	M	41	ENSP00000298295:V41M;ENSP00000414494:V41M	ENSP00000298295:V41M	V	-	1	0	C10orf10	44793364	0.196000	0.23350	0.650000	0.29550	0.394000	0.30568	0.805000	0.27112	0.765000	0.33221	0.561000	0.74099	GTG		0.662	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		8	72	0	0	0	1	0	8	72					T	45473358	C	T	45473358	3	4	488	1	0	0	0	0	1	0	0	0	1580	536	19	1	521	1	C10orf10	10	45473358	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		45473358	90061389	35	39565											
PTEN	5728	broad.mit.edu	37	chr10	89717741	89717741	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtgtggtgatatcaaagtaGagttcttccacaaacagaac	9	7	2	3	rs121909228		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:89717741G>T	ENST00000371953.3	+	7	2123	c.766G>T	c.(766-768)Gag>Tag	p.E256*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	256	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(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)		TATCAAAGTAGAGTTCTTCCA	0.373		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(2)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - deletion inframe(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(4)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(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	GRCh37	CM981674	PTEN	M	rs121909228	c.(766-768)Gag>Tag		phosphatase and tensin homolog							112	100	104					10																	89717741		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717741G>T	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.766G>T	10.37:g.89717741G>T	ENSP00000361021:p.Glu256*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.E256*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	7	2123	+		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)	256			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.766G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	49	15.441335	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.047328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3451	18.6161	0.91303	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	.	E	+	1	0	PTEN	89707721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.380000	0.81148	0.585000	0.79938	GAG		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		17	71	1	0	5.03518e-11	1	5.77808e-11	17	71					T	89717741	G	T	89717741	4	4	488	1	0	0	0	0	0	1	0	0	12738	943	33	4	792	4	PTEN	10	89717741	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	44244383	89717741	45817006	36	39566											
CD81	975	broad.mit.edu	37	chr11	2416679	2416679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagttctatgaccagGccctacagcaggccgtggtg	13	11	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:2416679G>A	ENST00000263645.5	+	5	644	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	CD81_ENST00000481687.1_Missense_Mutation_p.A136T|CD81_ENST00000526072.1_Missense_Mutation_p.A59T|CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A168T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	130					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	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)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		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;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGACCAGGCCCTACAGCA	0.682																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(388-390)Gcc>Acc		CD81 molecule							85	82	83					11																	2416679		2202	4298	6500	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2416679G>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.388G>A	11.37:g.2416679G>A	ENSP00000263645:p.Ala130Thr					CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000481687.1_Missense_Mutation_p.A136T|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A168T|CD81_ENST00000526072.1_Missense_Mutation_p.A59T	p.A130T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	644	+		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)	130					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.388G>A	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618433	0.28801	.	.	ENSG00000110651	ENST00000475945;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687	T;T;T;T;T;T;T;T;T	0.78924	-1.2;-1.2;-1.22;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	3.63	3.63	0.41609	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.364316	0.25532	N	0.030028	T	0.71592	0.3358	N	0.25094	0.71	0.46078	D	0.998853	D;P	0.57571	0.98;0.896	P;P	0.59487	0.858;0.519	T	0.67956	-0.5536	10	0.02654	T	1	.	11.0093	0.47652	0.0:0.0:1.0:0.0	.	168;130	A6NMH8;P60033	.;CD81_HUMAN	T	59;130;125;59;119;168;123;59;136	ENSP00000433178:A59T;ENSP00000263645:A130T;ENSP00000435633:A125T;ENSP00000437242:A59T;ENSP00000433767:A119T;ENSP00000370424:A168T;ENSP00000432249:A123T;ENSP00000431780:A59T;ENSP00000432033:A136T	ENSP00000263645:A130T	A	+	1	0	CD81	2373255	0.995000	0.38212	1.000000	0.80357	0.948000	0.59901	2.766000	0.47629	2.050000	0.60909	0.549000	0.68633	GCC		0.682	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		7	36	0	0	0	1	0	7	36					A	2416679	G	A	2416679	3	1	488	1	0	0	0	0	1	0	0	0	3039	1203	42	2	406	2	CD81	11	2416679	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		2416679	132589837	37	39567											
OR5T3	390154	broad.mit.edu	37	chr11	56020078	56020078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacacagatgcttctttttGttacttttggaactacagaa	6	8	1	2	rs143584658		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:56020078G>T	ENST00000303059.3	+	1	403	c.403G>T	c.(403-405)Gtt>Ttt	p.V135F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCTTCTTTTTGTTACTTTTGG	0.383																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(403-405)Gtt>Ttt		olfactory receptor, family 5, subfamily T, member 3							191	186	188					11																	56020078		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020078G>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.403G>T	11.37:g.56020078G>T	ENSP00000305403:p.Val135Phe						p.V135F	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	403	+	Esophageal squamous(21;0.00448)		135					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.403G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	3.942	-0.014106	0.07681	.	.	ENSG00000172489	ENST00000303059	T	0.00567	6.54	4.55	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.162766	0.27730	U	0.018090	T	0.00356	0.0011	N	0.25094	0.71	0.09310	N	1	B	0.14438	0.01	B	0.17979	0.02	T	0.50841	-0.8780	10	0.59425	D	0.04	.	0.8555	0.01182	0.3453:0.1683:0.3347:0.1517	.	135	Q8NGG3	OR5T3_HUMAN	F	135	ENSP00000305403:V135F	ENSP00000305403:V135F	V	+	1	0	OR5T3	55776654	0.000000	0.05858	0.032000	0.17829	0.123000	0.20343	-4.102000	0.00295	0.652000	0.30806	0.643000	0.83706	GTT		0.383	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		13	183	1	0	4.3838e-07	1	4.79478e-07	13	183					T	56020078	G	T	56020078	3	4	488	1	0	0	0	0	1	0	0	0	11183	1377	48	4	405	4	OR5T3	11	56020078	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	53603399	56020078	78986438	38	39568											
MS4A4A	51338	broad.mit.edu	37	chr11	60064771	60064771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccctatttccgtgtatatCgggtacacaatttgggggtc	10	9	0	0	rs370827359		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:60064771C>T	ENST00000337908.4	+	3	393	c.303C>T	c.(301-303)atC>atT	p.I101I	MS4A4A_ENST00000355131.3_Silent_p.I82I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000395016.3_Silent_p.I82I	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	101						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCGTGTATATCGGGTACACAA	0.388																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(244-246)atC>atT		membrane-spanning 4-domains, subfamily A, member 4A		C	,	0,4406		0,0,2203	152	128	136		246,303	-7.8	0	11		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MS4A4A	NM_024021.3,NM_148975.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	82/221,101/240	60064771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60064771C>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"membrane-spanning 4-domains, subfamily A, member 4"	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.303C>T	11.37:g.60064771C>T						MS4A4A_ENST00000395016.3_Silent_p.I82I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000337908.4_Silent_p.I101I	p.I82I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			4	469	+			101					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.246C>T	CCDS7982.1																																																																																				0.388	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			5	91	0	0	0	1	0	5	91					T	60064771	C	T	60064771	2	4	488	1	0	0	0	0	0	0	0	1	9862	874	31	1		1	MS4A4A	11	60064771	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	4044693	60064771	74941745	39	39569											
TMEM225	338661	broad.mit.edu	37	chr11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagcccaggttacgtgaCgtgtttggacttttttgttt	11	7	0	2	rs114749572	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219					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						GGTTACGTGACGTGTTTGGAC	0.418													C|||	13	0.00259585	0.0098	0.0	5008	,	,		19071	0.0		0.0	False		,,,				2504	0.0					ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(655-657)cGt>cAt		transmembrane protein 225		C	HIS/ARG	32,4372	36.8+/-68.6	1,30,2171	178	164	168		656	0	0	11	dbSNP_132	168	0,8598		0,0,4299	no	missense	TMEM225	NM_001013743.1	29	1,30,6470	TT,TC,CC		0.0,0.7266,0.2461	benign	219/226	123753867	32,12970	2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753867C>T	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.656G>A	11.37:g.123753867C>T	ENSP00000364166:p.Arg219His						p.R219H	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			4	872	-			219						Missense_Mutation	SNP	ENST00000375026.2	37	c.656G>A	CCDS31697.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	7.176	0.588549	0.13812	0.007266	0.0	ENSG00000204300	ENST00000375026	T	0.37584	1.19	3.89	-0.0361	0.13890	.	0.000000	0.45361	D	0.000362	T	0.13884	0.0336	N	0.20986	0.625	0.09310	N	1	B	0.26195	0.144	B	0.18263	0.021	T	0.10730	-1.0617	10	0.52906	T	0.07	-4.2744	6.7241	0.23346	0.0:0.5946:0.0:0.4054	.	219	Q6GV28	TM225_HUMAN	H	219	ENSP00000364166:R219H	ENSP00000364166:R219H	R	-	2	0	TMEM225	123259077	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.764000	0.26532	0.004000	0.14682	-1.619000	0.00793	CGT		0.418	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		7	84	0	0	0	1	0	7	84					T	123753867	C	T	123753867	3	4	488	1	0	0	0	0	1	0	0	0	16144	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	63689096	123753867	11252649	40	39570											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320546	46320546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgtaccgatcatttcCtcgtggacatctccaaccat	5	14	3	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:46320546C>T	ENST00000369367.3	-	11	3171	c.2938G>A	c.(2938-2940)Gga>Aga	p.G980R	SCAF11_ENST00000419565.2_Missense_Mutation_p.G980R|SCAF11_ENST00000549162.1_Missense_Mutation_p.G788R|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.G665R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	980	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						CGATCATTTCCTCGTGGACAT	0.393																																						ENST00000465950.1																			0				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						c.(1993-1995)Gga>Aga		SR-related CTD-associated factor 11							214	203	206					12																	46320546		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320546C>T	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.2938G>A	12.37:g.46320546C>T	ENSP00000358374:p.Gly980Arg					SCAF11_ENST00000549162.1_Missense_Mutation_p.G788R|SCAF11_ENST00000369367.3_Missense_Mutation_p.G980R|SCAF11_ENST00000419565.2_Missense_Mutation_p.G980R	p.G665R			Q99590	SCAFB_HUMAN			1	3202	-			980					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1993G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984680	0.74474	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.76578	-0.53;0.15;-0.54;0.15;-1.03	6.17	6.17	0.99709	.	0.085615	0.51477	D	0.000084	D	0.86239	0.5885	M	0.64997	1.995	0.46927	D	0.999258	D;D	0.89917	0.99;1.0	P;D	0.79108	0.783;0.992	T	0.79359	-0.1836	10	0.12766	T	0.61	-23.2749	20.8794	0.99867	0.0:1.0:0.0:0.0	.	788;980	F8VXG7;Q99590	.;SCAFB_HUMAN	R	665;980;788;980;920	ENSP00000449812:G665R;ENSP00000358374:G980R;ENSP00000448864:G788R;ENSP00000413036:G980R;ENSP00000446746:G920R	ENSP00000358374:G980R	G	-	1	0	SCAF11	44606813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.666000	0.54540	2.941000	0.99782	0.655000	0.94253	GGA		0.393	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		18	155	0	0	0	1	0	18	155					T	46320546	C	T	46320546	3	4	488	1	0	0	0	0	1	0	0	0	14177	690	24	2	1473	2	SFRS2IP	12	46320546	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		46320546	87531349	41	39571											
RASSF9	9182	broad.mit.edu	37	chr12	86198645	86198645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacctcagattccttcgcTctgttttcctttaactggca	7	12	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:86198645T>C	ENST00000361228.3	-	2	1511	c.1143A>G	c.(1141-1143)agA>agG	p.R381R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	381					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCTTCGCTCTGTTTTCCT	0.418																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1141-1143)agA>agG		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							179	175	176					12																	86198645		1905	4132	6037	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198645T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1143A>G	12.37:g.86198645T>C							p.R381R	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1511	-			381					B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.1143A>G	CCDS44950.1																																																																																				0.418	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			4	120	0	0	0	1	0	4	120					C	86198645	T	C	86198645	2	2	488	1	0	0	0	0	0	0	0	1	13093	1548	54	3		3	RASSF9	12	86198645	Silent	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	39878099	86198645	47653250	42	39572											
MRPL42	28977	broad.mit.edu	37	chr12	93881384	93881384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggacctatgatagaaCaacttagcaaaatgttcttt	8	6	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:93881384C>A	ENST00000549982.1	+	5	492	c.331C>A	c.(331-333)Caa>Aaa	p.Q111K	MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K|MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	111					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TATGATAGAACAACTTAGCAA	0.378																																						ENST00000549982.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						c.(331-333)Caa>Aaa		mitochondrial ribosomal protein L42							144	131	135					12																	93881384		2203	4300	6503	SO:0001583	missense	28977				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr12:93881384C>A	AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"Mitochondrial ribosomal proteins / large subunits", "Mitochondrial ribosomal proteins / small subunits"	14493	protein-coding gene	gene with protein product	"mitochondrial ribosomal protein S32"	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.331C>A	12.37:g.93881384C>A	ENSP00000449884:p.Gln111Lys					MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K	p.Q111K	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN			5	492	+			111					Q6FID1|Q96Q48|Q9P0S1	Missense_Mutation	SNP	ENST00000549982.1	37	c.331C>A	CCDS9045.1	.	.	.	.	.	.	.	.	.	.	C	6.202	0.405378	0.11754	.	.	ENSG00000198015	ENST00000549982;ENST00000361630;ENST00000552217;ENST00000393128	.	.	.	4.98	3.03	0.35002	.	0.153263	0.42821	N	0.000646	T	0.39784	0.1091	L	0.41236	1.265	0.22500	N	0.999041	B;B	0.10296	0.002;0.003	B;B	0.16722	0.006;0.016	T	0.32613	-0.9900	9	0.44086	T	0.13	-13.0511	13.8008	0.63199	0.0973:0.7093:0.1934:0.0	.	111;111	Q9Y6G3;A6NCI0	RM42_HUMAN;.	K	111	.	ENSP00000355202:Q111K	Q	+	1	0	MRPL42	92405515	1.000000	0.71417	0.997000	0.53966	0.261000	0.26267	2.024000	0.41049	0.626000	0.30322	-1.378000	0.01179	CAA		0.378	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407715.1	NM_014050		8	140	1	0	0.307466	1	0.307466	8	140					A	93881384	C	A	93881384	3	1	488	1	0	0	0	0	1	0	0	0	9806	479	17	4	369	4	MRPL42	12	93881384	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	7682739	93881384	39970511	43	39573											
DTX1	1840	broad.mit.edu	37	chr12	113534718	113534718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctcacagcccagggcGtatccgaggctgcagccaag	13	14	1	1	rs200652619	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:113534718G>A	ENST00000257600.3	+	9	2340	c.1837G>A	c.(1837-1839)Gta>Ata	p.V613I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	613					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCCCAGGGCGTATCCGAGGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		21245	0.001		0.0	False		,,,				2504	0.001					ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1837-1839)Gta>Ata		deltex homolog 1 (Drosophila)							47	37	41					12																	113534718		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534718G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1837G>A	12.37:g.113534718G>A	ENSP00000257600:p.Val613Ile					DTX1_ENST00000547974.1_3'UTR	p.V613I	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2340	+			613					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1837G>A	CCDS9164.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.845	1.191985	0.21954	.	.	ENSG00000135144	ENST00000257600	T	0.45668	0.89	4.99	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.16266	0.395	0.49582	D	0.999802	P	0.37636	0.603	B	0.27608	0.081	T	0.03545	-1.1026	10	0.30078	T	0.28	-1.6423	10.1668	0.42886	0.1601:0.0:0.8399:0.0	.	613	Q86Y01	DTX1_HUMAN	I	613	ENSP00000257600:V613I	ENSP00000257600:V613I	V	+	1	0	DTX1	112019101	1.000000	0.71417	0.009000	0.14445	0.186000	0.23388	3.432000	0.52824	0.517000	0.28361	0.561000	0.74099	GTA		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			3	17	0	0	0	1	0	3	17					A	113534718	G	A	113534718	3	1	488	1	0	0	0	0	1	0	0	0	4793	1145	40	1	1871	1	DTX1	12	113534718	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	19653334	113534718	20317177	44	39574											
FLT1	2321	broad.mit.edu	37	chr13	29004260	29004260	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgcttgccagctacggtttCaagcacctgctgttttcgat	9	13	1	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr13:29004260C>A	ENST00000282397.4	-	8	1284	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	345	Ig-like C2-type 4.				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)	GCTACGGTTTCAAGCACCTGC	0.408																																						ENST00000282397.4																			0				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						c.(1033-1035)Gaa>Taa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						106	96	99					13																	29004260		2203	4299	6502	SO:0001587	stop_gained	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29004260C>A	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.1033G>T	13.37:g.29004260C>A	ENSP00000282397:p.Glu345*					FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345*	p.E345*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	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)	8	1284	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	345			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	ENST00000282397.4	37	c.1033G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	37	6.084895	0.97267	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	.	.	.	5.72	5.72	0.89469	.	0.190416	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.8879	0.96917	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000282397:E345X	E	-	1	0	FLT1	27902260	0.999000	0.42202	0.746000	0.31095	0.203000	0.24098	4.398000	0.59697	2.693000	0.91896	0.655000	0.94253	GAA		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			7	55	1	0	5.4927e-09	1	6.20144e-09	7	55					A	29004260	C	A	29004260	4	1	488	1	0	0	0	0	0	1	0	0	5941	835	29	4	3338	4	FLT1	13	29004260	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		29004260	86165618	45	39575											
CYP11A1	1583	broad.mit.edu	37	chr15	74659800	74659800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaaggggcgaggactgcGggtggagatgccagctccct	17	9	0	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr15:74659800G>A	ENST00000268053.6	-	1	281	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	CTD-2311M21.3_ENST00000568496.1_RNA|CYP11A1_ENST00000419019.2_5'Flank|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C|CYP11A1_ENST00000358632.4_5'Flank|CYP11A1_ENST00000467407.1_5'UTR|CTD-2311M21.2_ENST00000562009.1_RNA	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	43					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)	CGAGGACTGCGGGTGGAGATG	0.617																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000268053.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(127-129)Cgc>Tgc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						86	83	84					15																	74659800		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74659800G>A	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.127C>T	15.37:g.74659800G>A	ENSP00000268053:p.Arg43Cys					CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C	p.R43C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN			1	281	-			43					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.127C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	g	17.28	3.349388	0.61183	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000433240;ENST00000416978	T;D;D	0.85484	-1.1;-1.88;-1.99	4.14	-0.545	0.11843	.	1.402880	0.04182	N	0.326696	T	0.79411	0.4441	N	0.19112	0.55	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.49502	0.613;0.517;0.517	T	0.68965	-0.5270	10	0.62326	D	0.03	-17.5479	5.6	0.17349	0.1037:0.0:0.353:0.5434	.	43;43;43	E7EPP8;B4DTE5;P05108	.;.;CP11A_HUMAN	C	43	ENSP00000268053:R43C;ENSP00000439750:R43C;ENSP00000388018:R43C	ENSP00000268053:R43C	R	-	1	0	CYP11A1	72446853	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.581000	0.23819	-0.008000	0.14320	0.537000	0.68136	CGC		0.617	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			7	44	0	0	0	1	0	7	44					A	74659800	G	A	74659800	3	1	488	1	0	0	0	0	1	0	0	0	4144	1116	39	1	1474	1	CYP11A1	15	74659800	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		74659800	27871592	46	39576											
RRAD	6236	broad.mit.edu	37	chr16	66956164	66956164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaggcgtatctggcgcaCgacaccttcaaacagcgcct	11	15	2	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:66956164C>T	ENST00000299759.6	-	5	992	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	RRAD_ENST00000420652.1_Missense_Mutation_p.V248M			P55042	RAD_HUMAN	Ras-related associated with diabetes	248					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ATCTGGCGCACGACACCTTCA	0.607																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(742-744)Gtg>Atg		Ras-related associated with diabetes							85	67	73					16																	66956164		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956164C>T	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.742G>A	16.37:g.66956164C>T	ENSP00000299759:p.Val248Met					RRAD_ENST00000420652.1_Missense_Mutation_p.V248M	p.V248M			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	992	-		Ovarian(137;0.192)	248					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.742G>A	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334197	0.95758	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.81330	-1.48;-1.48	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.91338	0.7268	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91205	0.4994	10	0.59425	D	0.04	.	20.328	0.98708	0.0:1.0:0.0:0.0	.	248	P55042	RAD_HUMAN	M	248	ENSP00000388744:V248M;ENSP00000299759:V248M	ENSP00000299759:V248M	V	-	1	0	RRAD	65513665	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	5.722000	0.68485	2.802000	0.96397	0.561000	0.74099	GTG		0.607	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		8	41	0	0	0	1	0	8	41					T	66956164	C	T	66956164	3	4	488	1	0	0	0	0	1	0	0	0	13671	536	19	1	188	1	RRAD	16	66956164	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		66956164	23398589	47	39577											
PRDM7	11105	broad.mit.edu	37	chr16	90130121	90130121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtattcagtaaatttggcGttcctgacaattctctcaaa	6	8	3	1	rs372056005		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:90130121G>A	ENST00000449207.2	-	5	426	c.407C>T	c.(406-408)aCg>aTg	p.T136M	PRDM7_ENST00000407825.1_De_novo_Start_InFrame|PRDM7_ENST00000325921.6_5'Flank	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	136					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TAAATTTGGCGTTCCTGACAA	0.413													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19691	0.0		0.0	False		,,,				2504	0.0					ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5								PR domain containing 7		A	MET/THR	2,3752		0,2,1875	100	96	97		407	-1.7	0	16		97	0,8226		0,0,4113	no	missense	PRDM7	NM_001098173.1	81	0,2,5988	AA,AG,GG		0.0,0.0533,0.0167	probably-damaging	136/493	90130121	2,11978	1877	4113	5990	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90130121G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.407C>T	16.37:g.90130121G>A	ENSP00000396732:p.Thr136Met					PRDM7_ENST00000449207.2_Missense_Mutation_p.T136M				Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	0	426	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)						A4Q9G8|Q08EM4|Q9NQW4	Translation_Start_Site	SNP	ENST00000449207.2	37		CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	8.229	0.804226	0.16467	5.33E-4	0.0	ENSG00000126856	ENST00000449207	T	0.12039	2.72	1.6	-1.66	0.08265	.	.	.	.	.	T	0.05227	0.0139	N	0.08118	0	0.09310	N	0.999999	P	0.49783	0.928	B	0.39660	0.306	T	0.34428	-0.9829	8	.	.	.	0.0517	5.0788	0.14646	0.5451:0.0:0.4549:0.0	.	136	Q9NQW5	PRDM7_HUMAN	M	136	ENSP00000396732:T136M	.	T	-	2	0	PRDM7	88657622	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.113000	0.10774	-0.471000	0.06891	-1.367000	0.01198	ACG		0.413	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			6	33	0	0	0	1	0	6	33					A	90130121	G	A	90130121	3	1	488	1	0	0	0	0	1	0	0	0	12461	1145	40	1	1095	1	PRDM7	16	90130121	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	23173957	90130121	224632	48	39578											
POLR2A	5430	broad.mit.edu	37	chr17	7405004	7405004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatacaataacttcaagtctAtggtcgtgtccggagctaaa	8	8	2	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:7405004A>G	ENST00000322644.6	+	14	2704	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	769					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)	p.M769V(1)		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)				CTTCAAGTCTATGGTCGTGTC	0.483																																						ENST00000322644.6																			1	Substitution - Missense(1)	p.M769V(1)	lung(1)	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						c.(2305-2307)Atg>Gtg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							70	65	67					17																	7405004		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405004A>G			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.2305A>G	17.37:g.7405004A>G	ENSP00000314949:p.Met769Val						p.M769V	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2704	+		Prostate(122;0.173)	769					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2305A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283039	0.80803	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.88586	-2.4	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98674	1.0689	10	0.87932	D	0	-15.4911	15.1554	0.72735	1.0:0.0:0.0:0.0	.	769	P24928	RPB1_HUMAN	V	725;769	ENSP00000314949:M769V	ENSP00000314949:M769V	M	+	1	0	SLC35G6	7345728	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.082000	0.94059	2.228000	0.72767	0.533000	0.62120	ATG		0.483	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		5	61	0	0	0	1	0	5	61					G	7405004	A	G	7405004	3	3	488	1	0	0	0	0	1	0	0	0	12214	449	16	3	2359	3	POLR2A	17	7405004	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		7405004	73790206	49	39579											
NF1	4763	broad.mit.edu	37	chr17	29586111	29586111	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacatatgcggcctttcaAtgattttgtgaaaagcaact	8	7	1	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:29586111A>G	ENST00000358273.4	+	33	4777	c.4394A>G	c.(4393-4395)aAt>aGt	p.N1465S	NF1_ENST00000356175.3_Missense_Mutation_p.N1444S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1465					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)		CGGCCTTTCAATGATTTTGTG	0.333			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	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						c.(4393-4395)aAt>aGt		neurofibromin 1							53	48	49					17																	29586111		2201	4299	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29586111A>G		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.4394A>G	17.37:g.29586111A>G	ENSP00000351015:p.Asn1465Ser	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.N1444S	p.N1465S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	33	4777	+		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)	1465					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4394A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	31	5.102249	0.94245	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.85484	-1.99;-1.99;-1.99	5.78	5.78	0.91487	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.76574	2.34	0.80722	D	1	D;D;B	0.76494	0.999;0.974;0.393	D;D;B	0.70487	0.958;0.969;0.194	D	0.92193	0.5761	10	0.56958	D	0.05	.	16.1145	0.81295	1.0:0.0:0.0:0.0	.	494;1444;1465	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	S	1465;1444;1110	ENSP00000351015:N1465S;ENSP00000348498:N1444S;ENSP00000389907:N1110S	ENSP00000348498:N1444S	N	+	2	0	NF1	26610237	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.623000	0.90957	2.205000	0.71048	0.454000	0.30748	AAT		0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	63	0	0	0	1	0	10	63					G	29586111	A	G	29586111	3	3	488	1	0	0	0	0	1	0	0	0	10356	101	4	3	4585	3	NF1	17	29586111	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	22181107	29586111	51609099	50	39580											
SERPINB10	5273	broad.mit.edu	37	chr18	61602098	61602098	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggccatcacctatgagaaGctgaatgagtggaccagtgc	12	9	1	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr18:61602098G>C	ENST00000238508.3	+	8	875	c.816G>C	c.(814-816)aaG>aaC	p.K272N	AC009802.1_ENST00000599868.1_Splice_Site_p.L13V	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	272					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTATGAGAAGCTGAATGAGT	0.443																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(814-816)aaG>aaC		serpin peptidase inhibitor, clade B (ovalbumin), member 10							113	110	111					18																	61602098		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61602098G>C	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.816G>C	18.37:g.61602098G>C	ENSP00000238508:p.Lys272Asn					AC009802.1_ENST00000599868.1_Splice_Site_p.L13_splice	p.K272N	NM_005024.1	NP_005015.1					8	875	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.816G>C	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	8.838	0.941538	0.18281	.	.	ENSG00000242550	ENST00000238508	D	0.84730	-1.89	5.4	1.47	0.22746	Serpin domain (3);	0.325596	0.35970	N	0.002880	T	0.74199	0.3685	L	0.43701	1.375	0.22787	N	0.998736	B	0.34103	0.437	B	0.29862	0.108	T	0.64019	-0.6505	10	0.51188	T	0.08	.	4.8164	0.13369	0.4279:0.152:0.4201:0.0	.	272	P48595	SPB10_HUMAN	N	272	ENSP00000238508:K272N	ENSP00000238508:K272N	K	+	3	2	SERPINB10	59753078	0.000000	0.05858	0.016000	0.15963	0.692000	0.40212	-1.606000	0.02072	0.051000	0.15978	0.561000	0.74099	AAG		0.443	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		5	56	0	0	0	1	0	5	56					C	61602098	G	C	61602098	3	2	488	1	0	0	0	0	1	0	0	0	14097	962	34	4	842	4	SERPINB10	18	61602098	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		61602098	16475150	51	39581											
C19orf21	126353	broad.mit.edu	37	chr19	757280	757280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtccaacatgggcactcCgcccagaggacggggaggac	15	13	0	1	rs149547647		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:757280C>T	ENST00000215582.6	+	2	437	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	112					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATGGGCACTCCGCCCAGAGGA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18033	0.0		0.0	False		,,,				2504	0.0					ENST00000215582.6																			0											c.(334-336)Cgc>Tgc		mitotic spindle positioning		C	CYS/ARG	0,4406		0,0,2203	55	47	49		334	-0.9	0	19	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf21	NM_173481.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	112/680	757280	1,13005	2203	4300	6503	SO:0001583	missense	126353							g.chr19:757280C>T	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.334C>T	19.37:g.757280C>T	ENSP00000215582:p.Arg112Cys						p.R112C	NM_173481.2	NP_775752.1					2	437	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.334C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253591	0.10185	0.0	1.16E-4	ENSG00000099812	ENST00000215582	T	0.14893	2.47	1.77	-0.898	0.10550	.	2.624880	0.02267	U	0.068079	T	0.05181	0.0138	N	0.02011	-0.69	0.09310	N	1	P	0.38048	0.616	B	0.21546	0.035	T	0.13818	-1.0495	10	0.40728	T	0.16	1.116	4.5036	0.11876	0.0:0.5316:0.0:0.4684	.	112	Q8IVT2	CS021_HUMAN	C	112	ENSP00000215582:R112C	ENSP00000215582:R112C	R	+	1	0	C19orf21	708280	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.891000	0.04135	-0.237000	0.09739	0.313000	0.20887	CGC		0.677	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		5	31	0	0	0	1	0	5	31					T	757280	C	T	757280	3	4	488	1	0	0	0	0	1	0	0	0	1913	652	23	1	336	1	C19orf21	19	757280	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		757280	58371703	52	39582											
MUC16	94025	broad.mit.edu	37	chr19	9006762	9006762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggcaccaggagagggccGgtggctatagtgaaggtggg	19	6	0	2	rs537132833		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:9006762G>A	ENST00000397910.4	-	44	39689	c.39486C>T	c.(39484-39486)acC>acT	p.T13162T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13164					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						GGAGAGGGCCGGTGGCTATAG	0.423																																						ENST00000397910.4																			0				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						c.(39484-39486)acC>acT		mucin 16, cell surface associated							161	130	140					19																	9006762		1920	4118	6038	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006762G>A	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.39486C>T	19.37:g.9006762G>A							p.T13162T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			44	39689	-			13164					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39486C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.685	-0.505426	0.04261	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.99	-5.98	0.02220	.	.	.	.	.	T	0.18257	0.0438	.	.	.	.	.	.	.	.	.	.	.	.	T	0.03566	-1.1024	3	.	.	.	-0.0872	2.1822	0.03878	0.18:0.2619:0.4298:0.1284	.	.	.	.	L	2	.	.	P	-	2	0	MUC16	8867762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.644000	0.00107	-4.971000	0.00025	-3.095000	0.00064	CCG		0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	102	0	0	0	1	0	7	102					A	9006762	G	A	9006762	2	1	488	1	0	0	0	0	0	0	0	1	9973	1103	39	1		1	MUC16	19	9006762	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	8249482	9006762	50122221	53	39583											
ZNF681	148213	broad.mit.edu	37	chr19	23938242	23938242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccaagaagaccaggtTtctgtagttctctaacatca	6	12	4	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:23938242T>C	ENST00000402377.3	-	2	256	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	39	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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGACCAGGTTTCTGTAGTTC	0.348																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(115-117)Aac>Gac		zinc finger protein 681							101	112	108					19																	23938242		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23938242T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.115A>G	19.37:g.23938242T>C	ENSP00000384000:p.Asn39Asp					ZNF681_ENST00000395385.3_Intron	p.N39D	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			2	256	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	39			KRAB.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.115A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578514	0.28180	.	.	ENSG00000196172	ENST00000402377	T	0.02345	4.33	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.15522	0.0374	M	0.93462	3.42	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.00485	-1.1711	9	0.87932	D	0	.	4.1617	0.10287	0.0:0.0:0.0:1.0	.	39	Q96N22	ZN681_HUMAN	D	39	ENSP00000384000:N39D	ENSP00000384000:N39D	N	-	1	0	ZNF681	23730082	0.003000	0.15002	0.605000	0.28930	0.606000	0.37113	0.617000	0.24359	0.383000	0.24910	0.377000	0.23210	AAC		0.348	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		4	241	0	0	0	1	0	4	241					C	23938242	T	C	23938242	3	2	488	1	0	0	0	0	1	0	0	0	18085	1841	64	3	1834	3	ZNF681	19	23938242	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	14931480	23938242	35190741	54	39584											
COX6B1	1340	broad.mit.edu	37	chr19	36145573	36145573	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctctgccccacatcctgGgtatgtgcctcctgccaggg	10	17	1	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:36145573G>A	ENST00000592141.1	+	3	472	c.207G>A	c.(205-207)tgG>tgA	p.W69*	COX6B1_ENST00000392201.1_Splice_Site_p.W69*|COX6B1_ENST00000246554.3_Splice_Site_p.W69*			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	69					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACATCCTGGGTATGTGCCT	0.602																																						ENST00000246554.3																			0				lung(6)|prostate(1)|stomach(1)	8						c.e3+1		cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)							127	94	105					19																	36145573		2203	4300	6503	SO:0001630	splice_region_variant	1340				respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:36145573G>A	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2280	protein-coding gene	gene with protein product		124089	"cytochrome c oxidase subunit Vib", "cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.207+1G>A	19.37:g.36145573G>A						COX6B1_ENST00000592141.1_Splice_Site_p.W69_splice|COX6B1_ENST00000392201.1_Splice_Site_p.W69_splice	p.W69_splice	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	399	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		69					B2R5C9|Q6IBL4	Splice_Site	SNP	ENST00000592141.1	37	c.207_splice	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980561	0.92982	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.7635	15.8518	0.78937	0.0:0.0:1.0:0.0	.	.	.	.	X	69;86	.	ENSP00000246554:W69X	W	+	3	0	COX6B1	40837413	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.061000	0.89467	2.818000	0.97014	0.650000	0.86243	TGG		0.602	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863	Nonsense_Mutation	4	53	0	0	0	1	0	4	53					A	36145573	G	A	36145573	5	1	488	1	0	0	0	0	0	0	1	0	3776	1246	43	2	213	2	COX6B1	19	36145573	Splice_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	12207331	36145573	22983410	55	39585											
LGALS13	29124	broad.mit.edu	37	chr19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatattgccttccgtttcCgagtgcactttggcaatcat	8	11	1	1	rs534285827		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:40095888C>T	ENST00000221797.4	+	3	208	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	55	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													.|||	1	0.000199681	0.0	0.0	5008	,	,		23270	0.0		0.0	False		,,,				2504	0.001					ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(163-165)Cga>Tga		lectin, galactoside-binding, soluble, 13							242	178	200					19																	40095888		2203	4300	6503	SO:0001587	stop_gained	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095888C>T	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"Lectins, galactoside-binding"	15449	protein-coding gene	gene with protein product	"galectin 13"	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.163C>T	19.37:g.40095888C>T	ENSP00000221797:p.Arg55*						p.R55*	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		3	208	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		55			Galectin.		C5HZ15	Nonsense_Mutation	SNP	ENST00000221797.4	37	c.163C>T	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	7.669	0.686497	0.14973	.	.	ENSG00000105198	ENST00000221797	.	.	.	0.744	-1.49	0.08718	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	55	.	ENSP00000221797:R55X	R	+	1	2	LGALS13	44787728	0.023000	0.18921	0.001000	0.08648	0.015000	0.08874	-1.085000	0.03390	-2.080000	0.00870	-2.332000	0.00249	CGA		0.498	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		4	34	0	0	0	1	0	4	34					T	40095888	C	T	40095888	4	4	488	1	0	0	0	0	0	1	0	0	8740	644	23	1	173	1	LGALS13	19	40095888	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	3950315	40095888	19033095	56	39586											
NLRP5	126206	broad.mit.edu	37	chr19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccctcgtcagcaaccGgagcttgacacacctgtgcc	9	17	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951					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)		GTCAGCAACCGGAGCTTGACA	0.567																																						ENST00000390649.3																			0				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						c.(2851-2853)cGg>cAg		NLR family, pyrin domain containing 5							118	117	117					19																	56552353		2035	4216	6251	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56552353G>A	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.2852G>A	19.37:g.56552353G>A	ENSP00000375063:p.Arg951Gln						p.R951Q	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	11	2852	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	951					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2852G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003594	0.07866	.	.	ENSG00000171487	ENST00000390649	T	0.61980	0.06	4.37	-8.74	0.00838	.	1.165660	0.06891	N	0.804302	T	0.24198	0.0586	N	0.01668	-0.77	0.09310	N	1	B	0.18863	0.031	B	0.08055	0.003	T	0.18999	-1.0319	10	0.19590	T	0.45	.	5.4908	0.16774	0.5173:0.0:0.2723:0.2104	.	951	P59047	NALP5_HUMAN	Q	951	ENSP00000375063:R951Q	ENSP00000375063:R951Q	R	+	2	0	NLRP5	61244165	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.220000	0.02971	-2.114000	0.00832	-0.782000	0.03352	CGG		0.567	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		7	74	0	0	0	1	0	7	74					A	56552353	G	A	56552353	3	1	488	1	0	0	0	0	1	0	0	0	10480	1116	39	1	2894	1	NLRP5	19	56552353	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	16456465	56552353	2576630	57	39587											
TMC2	117532	broad.mit.edu	37	chr20	2621836	2621836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacaagaaggcgcagggcCctgggacctccaattctgcc	13	13	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr20:2621836C>T	ENST00000358864.1	+	20	2575	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	854					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCGCAGGGCCCTGGGACCTC	0.587																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2560-2562)Cct>Tct		transmembrane channel-like 2							85	89	88					20																	2621836		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2621836C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2560C>T	20.37:g.2621836C>T	ENSP00000351732:p.Pro854Ser						p.P854S	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			20	2575	+			854					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2560C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	5.566	0.289292	0.10513	.	.	ENSG00000149488	ENST00000358864	T	0.62639	0.01	4.23	-6.51	0.01878	.	1.254220	0.05411	N	0.542495	T	0.43077	0.1231	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.07482	T	0.82	0.0311	1.9047	0.03275	0.1183:0.2132:0.3495:0.319	.	854	Q8TDI7	TMC2_HUMAN	S	854	ENSP00000351732:P854S	ENSP00000351732:P854S	P	+	1	0	TMC2	2569836	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.693000	0.00829	-1.320000	0.02283	-0.229000	0.12294	CCT		0.587	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			8	92	0	0	0	1	0	8	92					T	2621836	C	T	2621836	3	4	488	1	0	0	0	0	1	0	0	0	15982	623	22	2	2638	2	TMC2	20	2621836	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		2621836	60403684	58	39588											
C21orf29	54084	broad.mit.edu	37	chr21	45949682	45949682	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcccccctactaaccAtagggatattttagcacctc	9	13	0	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr21:45949682A>T	ENST00000323084.4	-	5	854	c.789T>A	c.(787-789)taT>taA	p.Y263*	TSPEAR_ENST00000397916.1_Splice_Site_p.Y195*	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	263	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTACTAACCATAGGGATATT	0.642																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.e5+1		thrombospondin-type laminin G domain and EAR repeats							51	58	56					21																	45949682		2203	4300	6503	SO:0001630	splice_region_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949682A>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.790+1T>A	21.37:g.45949682A>T						TSPEAR_ENST00000397916.1_Splice_Site_p.Y195_splice	p.Y263_splice	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	854	-			263						Splice_Site	SNP	ENST00000323084.4	37	c.790_splice	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534015	0.85812	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	.	.	.	5.27	-1.32	0.09201	.	2.170780	0.02547	N	0.095254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7644	13.7873	0.63117	0.5651:0.0:0.4349:0.0	.	.	.	.	X	263;195;263	.	ENSP00000321987:Y263X	Y	-	3	2	TSPEAR	44774110	0.986000	0.35501	0.955000	0.39395	0.352000	0.29268	0.198000	0.17217	-0.895000	0.03920	-1.751000	0.00678	TAT		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	Nonsense_Mutation	11	45	0	0	0	1	0	11	45					T	45949682	A	T	45949682	5	4	488	1	0	0	0	0	0	0	1	0	2124	231	8	5	1252	5	C21orf29	21	45949682	Splice_Site	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		45949682	2180213	59	39589			1	52		2	2	25	A		4.884116e-05
C21orf29	54084	broad.mit.edu	37	chr21	45949706	45949706	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatattttagcacctcgttAtcttctggcttccccgtgag	9	11	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr21:45949706A>G	ENST00000323084.4	-	5	830	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TSPEAR_ENST00000397916.1_Silent_p.D187D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	255	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCACCTCGTTATCTTCTGGCT	0.637																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(763-765)gaT>gaC		thrombospondin-type laminin G domain and EAR repeats							59	66	63					21																	45949706		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949706A>G	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.765T>C	21.37:g.45949706A>G						TSPEAR_ENST00000397916.1_Silent_p.D187D	p.D255D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	830	-			255						Silent	SNP	ENST00000323084.4	37	c.765T>C	CCDS13712.1																																																																																				0.637	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		9	43	0	0	0	1	0	9	43					G	45949706	A	G	45949706	2	3	488	1	0	0	0	0	0	0	0	1	2124	446	16	3		3	C21orf29	21	45949706	Silent	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	24	45949706	2180189	60	39590			1	52		2	2	25	A		4.884116e-05
MXRA5	25878	broad.mit.edu	37	chrX	3240937	3240937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgggcttttcatagActgtgtctaatgtgtgcaga	13	6	2	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:3240937A>T	ENST00000217939.6	-	5	2943	c.2789T>A	c.(2788-2790)gTc>gAc	p.V930D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	930						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)				CTTTTCATAGACTGTGTCTAA	0.507																																						ENST00000217939.6																			0				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						c.(2788-2790)gTc>gAc		matrix-remodelling associated 5							117	88	98					X																	3240937		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240937A>T	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.2789T>A	X.37:g.3240937A>T	ENSP00000217939:p.Val930Asp						p.V930D	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2943	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	930					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2789T>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	7.285	0.609874	0.14066	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64260	-0.09	2.81	-2.17	0.07059	.	1.592620	0.04550	U	0.389744	T	0.38188	0.1031	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19877	-1.0292	10	0.59425	D	0.04	.	3.231	0.06749	0.3677:0.0:0.2338:0.3984	.	930	Q9NR99	MXRA5_HUMAN	D	930	ENSP00000217939:V930D	ENSP00000217939:V930D	V	-	2	0	MXRA5	3250937	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.049000	0.11924	-0.706000	0.05028	0.430000	0.28490	GTC		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		12	29	0	0	0	1	0	12	29					T	3240937	A	T	3240937	3	4	488	1	0	0	0	0	1	0	0	0	10003	275	10	5	5709	5	MXRA5	23	3240937	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		3240937	152029623	61	39591											
PHEX	5251	broad.mit.edu	37	chrX	22095783	22095783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttcatccgtttgtatgtgtCccctgatgacaaagcatcca	8	11	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:22095783C>A	ENST00000379374.4	+	5	1191	c.626C>A	c.(625-627)tCc>tAc	p.S209Y	PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y|PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	209					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						TTGTATGTGTCCCCTGATGAC	0.453																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(625-627)tCc>tAc		phosphate regulating endopeptidase homolog, X-linked							187	165	173					X																	22095783		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22095783C>A	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.626C>A	X.37:g.22095783C>A	ENSP00000368682:p.Ser209Tyr					PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y|PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y	p.S209Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			5	1191	+			209					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.626C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612405	0.66672	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.74106	-0.81;-0.81;-0.81	5.52	5.52	0.82312	Peptidase M13 (1);	0.226724	0.47093	D	0.000259	T	0.78110	0.4232	L	0.59436	1.845	0.80722	D	1	P;P	0.49559	0.925;0.873	P;P	0.48141	0.568;0.478	T	0.79957	-0.1584	10	0.54805	T	0.06	.	18.4851	0.90825	0.0:1.0:0.0:0.0	.	209;209	F5GXU4;P78562	.;PHEX_HUMAN	Y	209;209;112	ENSP00000368682:S209Y;ENSP00000440362:S209Y;ENSP00000439418:S112Y	ENSP00000368682:S209Y	S	+	2	0	PHEX	22005704	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.322000	0.59215	2.306000	0.77630	0.600000	0.82982	TCC		0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		14	93	1	0	4.3838e-07	1	4.79478e-07	14	93					A	22095783	C	A	22095783	3	1	488	1	0	0	0	0	1	0	0	0	11819	855	30	4	644	4	PHEX	23	22095783	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	18854846	22095783	133174777	62	39592											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298843	125298843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctggtagaagctcagCgaccgcacgcctgtgccacc	12	14	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:125298843C>T	ENST00000360028.2	-	1	1091	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	DCAF12L2_ENST00000538699.1_Silent_p.S355S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	355										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						AGAAGCTCAGCGACCGCACGC	0.632																																						ENST00000538699.1																			0				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						c.(1063-1065)tcG>tcA		DDB1 and CUL4 associated factor 12-like 2							48	52	50					X																	125298843		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125298843C>T	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.1065G>A	X.37:g.125298843C>T						DCAF12L2_ENST00000360028.2_Silent_p.S355S	p.S355S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1145	-			355					B2RN42	Silent	SNP	ENST00000360028.2	37	c.1065G>A	CCDS43991.1																																																																																				0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		6	36	0	0	0	1	0	6	36					T	125298843	C	T	125298843	2	4	488	1	0	0	0	0	0	0	0	1	4265	755	27	1		1	DCAF12L2	23	125298843	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	103203060	125298843	29971717	63	39593											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				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)	p.Q788Q(1)|p.Q900Q(1)		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)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	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						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	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.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	116	0	0	0	1	0	4	116					T	153907309	C	T	153907309	2	4	489	1	0	0	0	0	0	0	0	1	4434	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		153907309	95343312	1	39594											
IGSF8	93185	broad.mit.edu	37	chr1	160063551	160063551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttttctctgcaatctGggcccagctgccatcaggat	10	14	3	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:160063551G>T	ENST00000368086.1	-	3	1069	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	285	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGCAATCTGGGCCCAGCTG	0.607																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(853-855)Cag>Aag		immunoglobulin superfamily, member 8							40	35	37					1																	160063551		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063551G>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.853C>A	1.37:g.160063551G>T	ENSP00000357065:p.Gln285Lys					IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR	p.Q285K			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		3	1069	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		285			Ig-like C2-type 2.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.853C>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485469	0.26686	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.20463	2.07;2.07;2.07	3.64	3.64	0.41730	Immunoglobulin subtype (1);	0.352435	0.26265	N	0.025370	T	0.03695	0.0105	N	0.14661	0.345	0.31066	N	0.713531	B	0.18013	0.025	B	0.12837	0.008	T	0.26916	-1.0089	10	0.05959	T	0.93	-14.2983	14.5965	0.68410	0.0:0.0:1.0:0.0	.	285	Q969P0	IGSF8_HUMAN	K	285	ENSP00000316664:Q285K;ENSP00000357065:Q285K;ENSP00000397464:Q285K	ENSP00000316664:Q285K	Q	-	1	0	IGSF8	158330175	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.529000	0.53532	2.041000	0.60428	0.491000	0.48974	CAG		0.607	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		3	43	1	0	1	1	1	3	43					T	160063551	G	T	160063551	3	4	489	1	0	0	0	0	1	0	0	0	7604	1357	47	4	1004	4	IGSF8	1	160063551	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	6156242	160063551	89187070	2	39595											
CFHR5	81494	broad.mit.edu	37	chr1	196971684	196971684	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tatgacaaccacagtgaattAtcaggatggagaaaaagtag	10	5	1	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:196971684A>T	ENST00000256785.4	+	8	1329	c.1220A>T	c.(1219-1221)tAt>tTt	p.Y407F	CFHR5_ENST00000367414.5_Missense_Mutation_p.Y431F			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	407	Sushi 7. {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						ACAGTGAATTATCAGGATGGA	0.358																																						ENST00000367414.5																			0				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						c.(1291-1293)tAt>tTt		complement factor H-related 5							78	81	80					1																	196971684		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196971684A>T	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.1220A>T	1.37:g.196971684A>T	ENSP00000256785:p.Tyr407Phe					CFHR5_ENST00000256785.4_Missense_Mutation_p.Y407F	p.Y431F	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			8	1348	+			407			Sushi 7.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1292A>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195005	0.38806	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64260	-0.09;-0.09	3.76	3.76	0.43208	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65080	0.2657	L	0.45470	1.425	0.24333	N	0.994996	D	0.58970	0.984	P	0.59948	0.866	T	0.52749	-0.8534	9	0.13470	T	0.59	.	9.1513	0.36965	1.0:0.0:0.0:0.0	.	407	Q9BXR6	FHR5_HUMAN	F	431;407	ENSP00000356384:Y431F;ENSP00000256785:Y407F	ENSP00000256785:Y407F	Y	+	2	0	CFHR5	195238307	0.978000	0.34361	0.974000	0.42286	0.206000	0.24218	2.789000	0.47813	1.472000	0.48140	0.383000	0.25322	TAT		0.358	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		4	109	0	0	0	1	0	4	109					T	196971684	A	T	196971684	3	4	489	1	0	0	0	0	1	0	0	0	3288	449	16	5	1250	5	CFHR5	1	196971684	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	36908133	196971684	52278937	3	39596											
RNPEP	6051	broad.mit.edu	37	chr1	201958650	201958650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatctggtttcggctgaagTtggacccaggtaggagacaa	14	7	1	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:201958650T>C	ENST00000295640.4	+	3	771	c.728T>C	c.(727-729)gTt>gCt	p.V243A	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	243					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)		TCGGCTGAAGTTGGACCCAGG	0.552																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(727-729)gTt>gCt		arginyl aminopeptidase (aminopeptidase B)							101	96	97					1																	201958650		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201958650T>C	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.728T>C	1.37:g.201958650T>C	ENSP00000295640:p.Val243Ala					RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A|RNPEP_ENST00000471105.1_Intron	p.V243A	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	3	771	+			243					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.728T>C	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025294	0.75390	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.02369	4.32;4.32;4.32	5.58	5.58	0.84498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.155604	0.41396	D	0.000895	T	0.12817	0.0311	M	0.74647	2.275	0.58432	D	0.999999	P;P	0.49862	0.88;0.929	P;P	0.59115	0.755;0.852	T	0.00073	-1.2125	10	0.87932	D	0	-17.4624	14.7303	0.69377	0.0:0.0:0.0:1.0	.	251;243	Q7RU04;Q9H4A4	.;AMPB_HUMAN	A	243;243;112	ENSP00000295640:V243A;ENSP00000356255:V243A;ENSP00000389602:V112A	ENSP00000295640:V243A	V	+	2	0	RNPEP	200225273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.117000	0.64856	0.533000	0.62120	GTT		0.552	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		11	126	0	0	0	1	0	11	126					C	201958650	T	C	201958650	3	2	489	1	0	0	0	0	1	0	0	0	13509	1725	60	3	738	3	RNPEP	1	201958650	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	4986966	201958650	47291971	4	39597											
ACP1	52	broad.mit.edu	37	chr2	277249	277249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgactctgactttgagaCggtgtaccagcagtgtgtca	12	8	2	3	rs375641056		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:277249C>T	ENST00000272065.5	+	6	515	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ACP1_ENST00000272067.6_Missense_Mutation_p.T141M|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	141						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	GACTTTGAGACGGTGTACCAG	0.498																																						ENST00000272067.6																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(421-423)aCg>aTg		acid phosphatase 1, soluble		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	150	145	147		422,422	2.5	0.4	2		147	0,8600		0,0,4300	no	missense,missense	ACP1	NM_007099.3,NM_004300.3	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	141/159,141/159	277249	1,13005	2203	4300	6503	SO:0001583	missense	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:277249C>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"Protein tyrosine phosphatases / Class II Cys-based PTPs"	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.422C>T	2.37:g.277249C>T	ENSP00000272065:p.Thr141Met					ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272065.5_Missense_Mutation_p.T141M	p.T141M	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	6	518	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	141					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.422C>T	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312794	0.40895	2.27E-4	0.0	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.31247	1.5;1.5	5.62	2.52	0.30459	Phosphotyrosine protein phosphatase I superfamily (3);	0.583132	0.18528	N	0.138564	T	0.26340	0.0643	M	0.61703	1.905	0.58432	D	0.999999	B;B	0.25272	0.027;0.122	B;B	0.23852	0.019;0.049	T	0.07028	-1.0794	10	0.45353	T	0.12	-0.0354	3.6535	0.08212	0.1666:0.5706:0.1613:0.1014	.	141;141	P24666-2;P24666	.;PPAC_HUMAN	M	141	ENSP00000272067:T141M;ENSP00000272065:T141M	ENSP00000272065:T141M	T	+	2	0	ACP1	267249	0.962000	0.33011	0.447000	0.26932	0.946000	0.59487	1.301000	0.33447	0.162000	0.19483	-0.165000	0.13383	ACG		0.498	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			76	106	0	0	0	1	0	76	106					T	277249	C	T	277249	3	4	489	1	0	0	0	0	1	0	0	0	162	536	19	1	599	1	ACP1	2	277249	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		277249	242922124	5	39598											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	304						8	304	---	---	---	---	-	64778674	GAT	-	64778672	7	5	489	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-TQ-A7RQ-01A-11D-A33T-08	64501423	64778672	178420701	6	39599											
C1QL2	165257	broad.mit.edu	37	chr2	119914554	119914554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaatggcgctggcccGgacctggggacaagcggtgg	18	11	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:119914554G>A	ENST00000272520.3	-	2	1307	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	230	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCGCTGGCCCGGACCTGGGGA	0.657										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(688-690)Cgg>Tgg		complement component 1, q subcomponent-like 2							105	111	109					2																	119914554		2203	4300	6503	SO:0001583	missense	165257					collagen		g.chr2:119914554G>A	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"C1q and tumor necrosis factor related protein 10"	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.688C>T	2.37:g.119914554G>A	ENSP00000272520:p.Arg230Trp	HNSCC(49;0.14)					p.R230W	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			2	1307	-			230			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.688C>T	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926622	0.92319	.	.	ENSG00000144119	ENST00000272520	T	0.75821	-0.97	4.95	4.95	0.65309	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.172465	0.39341	N	0.001398	D	0.87838	0.6278	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89615	0.3844	9	.	.	.	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	230	Q7Z5L3	C1QL2_HUMAN	W	230	ENSP00000272520:R230W	.	R	-	1	2	C1QL2	119631024	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	6.641000	0.74324	2.283000	0.76528	0.561000	0.74099	CGG		0.657	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		4	215	0	0	0	1	0	4	215					A	119914554	G	A	119914554	3	1	489	1	0	0	0	0	1	0	0	0	1959	1115	39	1	179	1	C1QL2	2	119914554	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	55135882	119914554	123284819	7	39600											
DNAH7	56171	broad.mit.edu	37	chr2	196788467	196788467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattctgcatggacaatttgCcacgcaccaaagtgacaata	8	10	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:196788467C>T	ENST00000312428.6	-	23	3777	c.3677G>A	c.(3676-3678)gGc>gAc	p.G1226D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1226	Stem. {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						GGACAATTTGCCACGCACCAA	0.383																																						ENST00000312428.6																			0				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						c.(3676-3678)gGc>gAc		dynein, axonemal, heavy chain 7							115	106	108					2																	196788467		1965	4161	6126	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788467C>T	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.3677G>A	2.37:g.196788467C>T	ENSP00000311273:p.Gly1226Asp						p.G1226D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3777	-			1226			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3677G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646716	0.67358	.	.	ENSG00000118997	ENST00000312428	T	0.64085	-0.08	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86697	0.1927	10	0.66056	D	0.02	.	18.8774	0.92343	0.0:1.0:0.0:0.0	.	1226	Q8WXX0	DYH7_HUMAN	D	1226	ENSP00000311273:G1226D	ENSP00000311273:G1226D	G	-	2	0	DNAH7	196496712	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	5.715000	0.68430	2.530000	0.85305	0.655000	0.94253	GGC		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	151	0	0	0	1	0	4	151					T	196788467	C	T	196788467	3	4	489	1	0	0	0	0	1	0	0	0	4606	739	26	2	8569	2	DNAH7	2	196788467	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	76873913	196788467	46410906	8	39601											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			66	84	0	0	0	1	0	66	84					T	209113112	C	T	209113112	3	4	489	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	12324645	209113112	34086261	9	39602											
CAB39	51719	broad.mit.edu	37	chr2	231682512	231682512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagacacaacttcacaattaTgacaaaatacatcagtaaac	3	9	2	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:231682512T>C	ENST00000258418.5	+	8	1166	c.737T>C	c.(736-738)aTg>aCg	p.M246T	CAB39_ENST00000410084.3_Missense_Mutation_p.M246T|CAB39_ENST00000409788.3_Missense_Mutation_p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	246					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCACAATTATGACAAAATAC	0.343																																						ENST00000258418.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(736-738)aTg>aCg		calcium binding protein 39							95	96	96					2																	231682512		2203	4300	6503	SO:0001583	missense	51719				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding	g.chr2:231682512T>C	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.737T>C	2.37:g.231682512T>C	ENSP00000258418:p.Met246Thr					CAB39_ENST00000409788.3_Missense_Mutation_p.M246T|CAB39_ENST00000410084.3_Missense_Mutation_p.M246T	p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)	8	1166	+		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)	246					A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	37	c.737T>C	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098665	0.76870	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.34859	1.34;1.34;1.34	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	H	0.96301	3.8	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.80705	-0.1263	10	0.87932	D	0	.	13.2384	0.59983	0.0:0.0:0.0:1.0	.	246	Q9Y376	CAB39_HUMAN	T	246	ENSP00000258418:M246T;ENSP00000386238:M246T;ENSP00000386642:M246T	ENSP00000258418:M246T	M	+	2	0	CAB39	231390756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.012000	0.59069	0.533000	0.62120	ATG		0.343	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289		93	101	0	0	0	1	0	93	101					C	231682512	T	C	231682512	3	2	489	1	0	0	0	0	1	0	0	0	2525	1464	51	3	763	3	CAB39	2	231682512	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	22569400	231682512	11516861	10	39603											
SEC22C	9117	broad.mit.edu	37	chr3	42594904	42594904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcataagcaccaccttcaTagtcctggctggactgtaga	9	12	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42594904T>C	ENST00000264454.3	-	7	891	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ACCACCTTCATAGTCCTGGCT	0.448																																						ENST00000264454.3																			0				endometrium(1)|large_intestine(2)	3						c.(748-750)Atg>Gtg		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)							91	90	91					3																	42594904		2203	4300	6503	SO:0001583	missense	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42594904T>C	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.748A>G	3.37:g.42594904T>C	ENSP00000264454:p.Met250Val					SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000273156.7_Intron	p.M250V			Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	7	891	-			250					O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	ENST00000264454.3	37	c.748A>G	CCDS2700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.038|0.038	-1.298895|-1.298895	0.01364|0.01364	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000264454|ENST00000451653	T|.	0.15603|.	2.41|.	4.25|4.25	-8.5|-8.5	0.00927|0.00927	.|.	1.592710|.	0.03112|.	N|.	0.162543|.	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.02654|.	T|.	1|.	-15.4498|-15.4498	5.2169|5.2169	0.15348|0.15348	0.0813:0.4238:0.3198:0.175|0.0813:0.4238:0.3198:0.175	.|.	250|.	Q9BRL7|.	SC22C_HUMAN|.	V|C	250|171	ENSP00000264454:M250V|.	ENSP00000264454:M250V|.	M|Y	-|-	1|2	0|0	SEC22C|SEC22C	42569908|42569908	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.974000|0.974000	0.67602|0.67602	-1.649000|-1.649000	0.01993|0.01993	-2.017000|-2.017000	0.00944|0.00944	-1.139000|-1.139000	0.01908|0.01908	ATG|TAT		0.448	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		31	49	0	0	0	1	0	31	49					C	42594904	T	C	42594904	3	2	489	1	0	0	0	0	1	0	0	0	13990	1406	49	3	213	3	SEC22C	3	42594904	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08		42594904	155427526	11	39604											
USP38	84640	broad.mit.edu	37	chr4	144135159	144135159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttgtgaatgaaaaaaCcataggcagtcctcctaatg	7	10	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:144135159C>A	ENST00000307017.4	+	9	2536	c.2030C>A	c.(2029-2031)aCc>aAc	p.T677N	USP38_ENST00000510377.1_Missense_Mutation_p.T677N	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	677	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AATGAAAAAACCATAGGCAGT	0.403																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(2029-2031)aCc>aAc		ubiquitin specific peptidase 38							106	116	113					4																	144135159		2203	4295	6498	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135159C>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2030C>A	4.37:g.144135159C>A	ENSP00000303434:p.Thr677Asn					USP38_ENST00000510377.1_Missense_Mutation_p.T677N	p.T677N	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			9	2536	+	all_hematologic(180;0.158)		677					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.2030C>A	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	C	2.503	-0.314670	0.05422	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.08282	3.11;3.11	5.04	0.924	0.19418	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.130670	0.06538	N	0.742707	T	0.05640	0.0148	N	0.22421	0.69	0.09310	N	1	B;B	0.24768	0.014;0.111	B;B	0.21151	0.033;0.033	T	0.45542	-0.9254	10	0.25106	T	0.35	-8.4566	4.4532	0.11630	0.0:0.3981:0.1617:0.4402	.	677;677	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	N	677	ENSP00000427647:T677N;ENSP00000303434:T677N	ENSP00000303434:T677N	T	+	2	0	USP38	144354609	0.015000	0.18098	0.000000	0.03702	0.660000	0.38997	0.559000	0.23485	-0.164000	0.10927	0.460000	0.39030	ACC		0.403	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		5	209	1	0	1	1	1	5	209					A	144135159	C	A	144135159	3	1	489	1	0	0	0	0	1	0	0	0	17066	507	18	4	2064	4	USP38	4	144135159	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		144135159	47019117	12	39605											
LRBA	987	broad.mit.edu	37	chr4	151792590	151792590	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaatccatgtccaagcatGacttctgctttcctcctgca	5	14	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:151792590G>A	ENST00000357115.3	-	19	2517	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	LRBA_ENST00000507224.1_Silent_p.V758V|LRBA_ENST00000535741.1_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	758						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCCAAGCATGACTTCTGCTT	0.373																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2272-2274)gtC>gtT		LPS-responsive vesicle trafficking, beach and anchor containing							150	144	146					4																	151792590		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151792590G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2274C>T	4.37:g.151792590G>A						LRBA_ENST00000357115.3_Silent_p.V758V|LRBA_ENST00000507224.1_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V	p.V758V			P50851	LRBA_HUMAN			19	2747	-	all_hematologic(180;0.151)		758					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.2274C>T	CCDS3773.1																																																																																				0.373	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			33	131	0	0	0	1	0	33	131					A	151792590	G	A	151792590	2	1	489	1	0	0	0	0	0	0	0	1	8931	1277	45	2		2	LRBA	4	151792590	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	7657431	151792590	39361686	13	39606											
AHRR	57491	broad.mit.edu	37	chr5	428114	428114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagacaccgcagccaccgcgGatgcaaagtgagtaagactc	11	13	0	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:428114G>T	ENST00000505113.1	+	8	957	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	AHRR_ENST00000316418.5_Missense_Mutation_p.D323Y|AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	305					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCCACCGCGGATGCAAAGTG	0.587																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(967-969)Gat>Tat		aryl-hydrocarbon receptor repressor							20	24	23					5																	428114		2049	4188	6237	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428114G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.913G>T	5.37:g.428114G>T	ENSP00000424601:p.Asp305Tyr					AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y|AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000505113.1_Missense_Mutation_p.D305Y	p.D323Y	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	1011	+			305					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.967G>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099680	0.56183	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.54479	1.24;1.29;0.97;0.98;0.57	4.73	4.73	0.59995	.	0.403215	0.24461	N	0.038327	T	0.75693	0.3884	M	0.89214	3.015	0.40474	D	0.980375	D;P;P	0.89917	1.0;0.828;0.904	D;B;B	0.91635	0.999;0.259;0.439	T	0.81457	-0.0924	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.0:1.0:0.0	.	161;305;323	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Y	305;323;151;161;28	ENSP00000424601:D305Y;ENSP00000323816:D323Y;ENSP00000424880:D151Y;ENSP00000426932:D161Y;ENSP00000426076:D28Y	ENSP00000323816:D323Y	D	+	1	0	AHRR	481114	0.501000	0.26099	0.052000	0.19188	0.022000	0.10575	1.921000	0.40035	2.173000	0.68751	0.580000	0.79431	GAT		0.587	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		3	32	1	0	1	1	1	3	32					T	428114	G	T	428114	3	4	489	1	0	0	0	0	1	0	0	0	417	1174	41	4	1001	4	AHRR	5	428114	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		428114	180487146	14	39607											
IL6ST	3572	broad.mit.edu	37	chr5	55237255	55237255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaaaataccatcaccGccatctacatgatctactaa	5	13	3	1	rs200386892		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:55237255G>A	ENST00000381298.2	-	17	2724	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G	CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Silent_p.G743G|IL6ST_ENST00000336909.5_Silent_p.G804G|IL6ST_ENST00000502326.3_Silent_p.G804G|IL6ST_ENST00000381287.4_3'UTR	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	804					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)				TACCATCACCGCCATCTACAT	0.443			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				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						c.(2410-2412)ggC>ggT		interleukin 6 signal transducer (gp130, oncostatin M receptor)							93	95	94					5																	55237255		2203	4300	6503	SO:0001819	synonymous_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55237255G>A	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.2412C>T	5.37:g.55237255G>A						IL6ST_ENST00000381294.3_Silent_p.G743G|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Silent_p.G804G|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.G804G|CTD-2031P19.5_ENST00000576302.1_RNA	p.G804G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			17	2724	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	804					A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	ENST00000381298.2	37	c.2412C>T	CCDS3971.1																																																																																				0.443	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		5	251	0	0	0	1	0	5	251					A	55237255	G	A	55237255	2	1	489	1	0	0	0	0	0	0	0	1	7703	1074	38	1		1	IL6ST	5	55237255	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	54809141	55237255	125678005	15	39608											
SLC12A2	6558	broad.mit.edu	37	chr5	127520188	127520188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagcttgaactttataagAccaaggtattctcttctgct	7	8	2	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:127520188A>C	ENST00000262461.2	+	25	3619	c.3430A>C	c.(3430-3432)Acc>Ccc	p.T1144P	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1144					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ACTTTATAAGACCAAGGTATT	0.303																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3430-3432)Acc>Ccc		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						83	79	80					5																	127520188		2203	4296	6499	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127520188A>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3430A>C	5.37:g.127520188A>C	ENSP00000262461:p.Thr1144Pro					SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P	p.T1144P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	25	3619	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1144					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3430A>C	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675919	0.47886	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.87887	-2.31;-2.31	5.23	5.23	0.72850	.	0.051584	0.85682	D	0.000000	D	0.82715	0.5097	N	0.11064	0.09	0.52501	D	0.999951	D;D	0.59357	0.985;0.974	P;P	0.53809	0.735;0.548	D	0.83412	0.0028	10	0.32370	T	0.25	.	15.2635	0.73643	1.0:0.0:0.0:0.0	.	1128;1144	P55011-3;P55011	.;S12A2_HUMAN	P	1144;1128	ENSP00000262461:T1144P;ENSP00000340878:T1128P	ENSP00000262461:T1144P	T	+	1	0	SLC12A2	127548087	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	6.804000	0.75186	2.184000	0.69523	0.528000	0.53228	ACC		0.303	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		11	160	0	0	0	1	0	11	160					C	127520188	A	C	127520188	3	2	489	1	0	0	0	0	1	0	0	0	14383	275	10	5	3528	5	SLC12A2	5	127520188	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	72282933	127520188	53395072	16	39609											
SPINK9	643394	broad.mit.edu	37	chr5	147715192	147715192	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactatgagagcaacagccAtagtcctactcttggctctg	9	11	2	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:147715192A>G	ENST00000377906.1	+	1	71	c.16A>G	c.(16-18)Ata>Gta	p.I6V	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	6					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACAGCCATAGTCCTACT	0.478																																						ENST00000377906.1																			0				ovary(1)|urinary_tract(1)	2						c.(16-18)Ata>Gta		serine peptidase inhibitor, Kazal type 9							230	186	201					5																	147715192		2203	4300	6503	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147715192A>G	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"Serine peptidase inhibitors, Kazal type"	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.16A>G	5.37:g.147715192A>G	ENSP00000367139:p.Ile6Val					RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	p.I6V	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	71	+			6					B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.16A>G	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.209883	0.00024	.	.	ENSG00000204909	ENST00000377906	T	0.57273	0.41	3.29	0.532	0.17114	.	1.442350	0.04668	N	0.410161	T	0.29652	0.0740	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.15407	-1.0438	9	0.14656	T	0.56	-5.8617	3.3015	0.06984	0.251:0.0:0.2268:0.5223	.	6	Q5DT21	ISK9_HUMAN	V	6	ENSP00000367139:I6V	ENSP00000367139:I6V	I	+	1	0	SPINK9	147695385	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.733000	0.26087	0.453000	0.26858	-0.624000	0.04008	ATA		0.478	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		5	146	0	0	0	1	0	5	146					G	147715192	A	G	147715192	3	3	489	1	0	0	0	0	1	0	0	0	15065	217	8	3	18	3	SPINK9	5	147715192	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	20195004	147715192	33200068	17	39610											
GFOD1	54438	broad.mit.edu	37	chr6	13365582	13365582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccttgacggccttttggCcggtgaggaaggtgagcagg	18	8	0	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:13365582C>T	ENST00000379287.3	-	2	1230	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	189						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCTTTTGGCCGGTGAGGAA	0.602																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(565-567)gGc>gAc		glucose-fructose oxidoreductase domain containing 1							97	85	89					6																	13365582		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365582C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.566G>A	6.37:g.13365582C>T	ENSP00000368589:p.Gly189Asp					GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	p.G189D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1230	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	189					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.566G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593530	0.66219	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	Oxidoreductase, C-terminal (1);	0.142661	0.64402	D	0.000005	T	0.55577	0.1929	M	0.76328	2.33	0.58432	D	0.999999	B	0.10296	0.003	B	0.20955	0.032	T	0.58781	-0.7576	10	0.59425	D	0.04	-38.9598	18.088	0.89463	0.0:1.0:0.0:0.0	.	189	Q9NXC2	GFOD1_HUMAN	D	189;86	ENSP00000368589:G189D;ENSP00000368586:G86D	ENSP00000368586:G86D	G	-	2	0	GFOD1	13473561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.506000	0.84524	0.557000	0.71058	GGC		0.602	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		4	50	0	0	0	1	0	4	50					T	13365582	C	T	13365582	3	4	489	1	0	0	0	0	1	0	0	0	6343	739	26	2	610	2	GFOD1	6	13365582	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		13365582	157749485	18	39611											
ITPR3	3710	broad.mit.edu	37	chr6	33656147	33656147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagggcagcaaagtgagCgacttcttcgaccagtcctc	12	12	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:33656147C>T	ENST00000374316.5	+	49	7567	c.6507C>T	c.(6505-6507)agC>agT	p.S2169S	ITPR3_ENST00000605930.1_Silent_p.S2169S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2169					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)	GCAAAGTGAGCGACTTCTTCG	0.632																																						ENST00000374316.5																			0				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						c.(6505-6507)agC>agT		inositol 1,4,5-trisphosphate receptor, type 3							98	79	86					6																	33656147		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656147C>T	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.6507C>T	6.37:g.33656147C>T						ITPR3_ENST00000605930.1_Silent_p.S2169S	p.S2169S			Q14573	ITPR3_HUMAN			49	7567	+			2169					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.6507C>T	CCDS4783.1																																																																																				0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		8	87	0	0	0	1	0	8	87					T	33656147	C	T	33656147	2	4	489	1	0	0	0	0	0	0	0	1	7922	767	27	1		1	ITPR3	6	33656147	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	20290565	33656147	137458920	19	39612											
DNAH8	1769	broad.mit.edu	37	chr6	38891794	38891794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatattctgctgtgcacGggattcctttcctaccttgg	11	10	1	1	rs79890174	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:38891794G>A	ENST00000359357.3	+	71	10421	c.10167G>A	c.(10165-10167)acG>acA	p.T3389T	DNAH8_ENST00000449981.2_Silent_p.T3606T|DNAH8_ENST00000441566.1_Silent_p.T3353T|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3389					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						TGCTGTGCACGGGATTCCTTT	0.423													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					ENST00000359357.3																			0				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						c.(10165-10167)acG>acA		dynein, axonemal, heavy chain 8		G		18,4388	25.3+/-52.1	0,18,2185	232	215	221		10818	-12.1	0.1	6	dbSNP_132	221	0,8600		0,0,4300	no	coding-synonymous	DNAH8	NM_001206927.1		0,18,6485	AA,AG,GG		0.0,0.4085,0.1384		3606/4708	38891794	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38891794G>A	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.10167G>A	6.37:g.38891794G>A						DNAH8_ENST00000449981.2_Silent_p.T3606T|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3353T	p.T3389T							71	10421	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.10167G>A																																																																																					0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	235	0	0	0	1	0	6	235					A	38891794	G	A	38891794	2	1	489	1	0	0	0	0	0	0	0	1	4607	1103	39	1		1	DNAH8	6	38891794	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	5235647	38891794	132223273	20	39613											
ZNF292	23036	broad.mit.edu	37	chr6	87968903	87968903	+	Frame_Shift_Del	DEL	C	C	-													aaattaaaattagaaaatgaCctatccactccagcatccca							TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:87968903delC	ENST00000369577.3	+	8	5599	c.5556delC	c.(5554-5556)gacfs	p.D1852fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1852						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)		TAGAAAATGACCTATCCACTC	0.378																																						ENST00000369577.3																			0				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						c.(5554-5556)gafs		zinc finger protein 292							44	44	44					6																	87968903		1909	4126	6035	SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968903delC	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.5556delC	6.37:g.87968903delC	ENSP00000358590:p.Asp1852fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs	p.D1852fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5599	+		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)	1852					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.5556delC	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		51	87						51	87	---	---	---	---	-	87968903	C	-	87968903	7	5	489	1	0	1	0	1	0	0	0	0	17823	506	18	0	5586	0	ZNF292	6	87968903	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	49077109	87968903	83146164	21	39614											
IGFBP1	3484	broad.mit.edu	37	chr7	45930166	45930166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagggagccctgaaagCccagagagcacggagataac	15	10	0	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:45930166C>T	ENST00000275525.3	+	2	665	c.369C>T	c.(367-369)agC>agT	p.S123S	IGFBP1_ENST00000457280.1_Silent_p.S123S|IGFBP1_ENST00000468955.1_Silent_p.S123S	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	123					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)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						GCCCTGAAAGCCCAGAGAGCA	0.552																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(367-369)agC>agT		insulin-like growth factor binding protein 1							88	91	90					7																	45930166		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930166C>T		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.369C>T	7.37:g.45930166C>T						IGFBP1_ENST00000468955.1_Silent_p.S123S|IGFBP1_ENST00000457280.1_Silent_p.S123S	p.S123S	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			2	665	+			123					A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.369C>T	CCDS5504.1																																																																																				0.552	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		4	121	0	0	0	1	0	4	121					T	45930166	C	T	45930166	2	4	489	1	0	0	0	0	0	0	0	1	7578	738	26	2		2	IGFBP1	7	45930166	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		45930166	113208497	22	39615											
DDC	1644	broad.mit.edu	37	chr7	50595897	50595897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagggcagacgcacGcatggcgaagttgccatctg	13	12	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:50595897G>A	ENST00000444124.2	-	6	852	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C	DDC_ENST00000380984.4_Missense_Mutation_p.R218C|DDC_ENST00000426377.1_Missense_Mutation_p.R140C|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.R218C	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218					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)	GCAGACGCACGCATGGCGAAG	0.532																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(652-654)Cgt>Tgt		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						100	98	98					7																	50595897		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595897G>A		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.652C>T	7.37:g.50595897G>A	ENSP00000403644:p.Arg218Cys					DDC_ENST00000426377.1_Missense_Mutation_p.R140C|DDC_ENST00000357936.5_Missense_Mutation_p.R218C|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R218C|DDC_ENST00000431062.1_Intron	p.R218C	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			6	852	-	Glioma(55;0.08)|all_neural(89;0.245)		218					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.652C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398572	0.62177	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	6.06	4.2	0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.102551	0.64402	D	0.000006	T	0.55545	0.1927	M	0.86651	2.83	0.58432	D	0.999999	P;P	0.42456	0.78;0.78	P;P	0.44860	0.462;0.462	T	0.63769	-0.6562	10	0.66056	D	0.02	-7.8105	14.373	0.66854	0.0:0.0:0.7221:0.2779	.	218;218	Q53Y41;P20711	.;DDC_HUMAN	C	218;140;218;218	ENSP00000350616:R218C;ENSP00000395069:R140C;ENSP00000403644:R218C;ENSP00000370371:R218C	ENSP00000350616:R218C	R	-	1	0	DDC	50563391	1.000000	0.71417	0.906000	0.35671	0.564000	0.35744	1.378000	0.34328	0.826000	0.34661	0.650000	0.86243	CGT		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	158	0	0	0	1	0	4	158					A	50595897	G	A	50595897	3	1	489	1	0	0	0	0	1	0	0	0	4325	1087	38	1	826	1	DDC	7	50595897	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	4665731	50595897	108542766	23	39616											
FLNC	2318	broad.mit.edu	37	chr7	128478760	128478760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacagcacgttccgctgCacatacagacctgccatgga	11	13	0	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:128478760C>T	ENST00000325888.8	+	8	1575	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	FLNC_ENST00000346177.6_Silent_p.C438C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	438					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						CGTTCCGCTGCACATACAGAC	0.642																																						ENST00000325888.8																			0				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						c.(1312-1314)tgC>tgT		filamin C, gamma							85	95	92					7																	128478760		2129	4230	6359	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478760C>T	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.1314C>T	7.37:g.128478760C>T						FLNC_ENST00000346177.6_Silent_p.C438C	p.C438C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1575	+			438					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1314C>T	CCDS43644.1																																																																																				0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			9	236	0	0	0	1	0	9	236					T	128478760	C	T	128478760	2	4	489	1	0	0	0	0	0	0	0	1	5935	718	25	2		2	FLNC	7	128478760	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	77882863	128478760	30659903	24	39617											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			7	266						7	266	---	---	---	---	-	30945379	AAG	-	30945377	7	5	489	1	0	1	0	1	0	0	0	0	17399	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RQ-01A-11D-A33T-08		30945377	115418645	25	39618											
ARHGAP39	80728	broad.mit.edu	37	chr8	145763155	145763155	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttctcaatttggacttcTtcttagtgtttctttccagg	6	9	5	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:145763155T>C	ENST00000276826.5	-	6	2723				ARHGAP39_ENST00000377307.2_Missense_Mutation_p.K855R|ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39						axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTTGGACTTCTTCTTAGTGTT	0.547																																						ENST00000377307.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2563-2565)aAg>aGg		Rho GTPase activating protein 39							186	191	189					8																	145763155		2203	4300	6503	SO:0001627	intron_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145763155T>C		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2522-3569A>G	8.37:g.145763155T>C						ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000540274.1_Intron	p.K855R	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN			6	2648	-			840			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2564A>G		.	.	.	.	.	.	.	.	.	.	T	18.59	3.657215	0.67586	.	.	ENSG00000147799	ENST00000377307	D	0.91792	-2.91	4.95	4.95	0.65309	.	0.258992	0.36519	N	0.002556	D	0.89093	0.6617	L	0.51422	1.61	0.80722	D	1	P	0.43352	0.804	B	0.40066	0.318	D	0.88691	0.3209	10	0.44086	T	0.13	-46.899	12.5727	0.56347	0.0:0.0:0.0:1.0	.	855	Q9C0H5-2	.	R	855	ENSP00000366522:K855R	ENSP00000366522:K855R	K	-	2	0	ARHGAP39	145733963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.105000	0.64591	1.863000	0.54032	0.459000	0.35465	AAG		0.547	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			68	194	0	0	0	1	0	68	194					C	145763155	T	C	145763155	1	2	489	0	1	0	0	0	0	0	0	0	884	1609	56	3		3	ARHGAP39	8	145763155	Intron	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	114817778	145763155	600867	26	39619											
MARCH5	54708	broad.mit.edu	37	chr10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttacgacaggcacaccGcaaaattctgaattatccag	6	10	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					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						CAGGCACACCGCAAAATTCTG	0.353																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(799-801)cGc>cAc		membrane-associated ring finger (C3HC4) 5							82	78	79					10																	94110927		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94110927G>A	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.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His						p.R267H	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			6	1132	+			267						Missense_Mutation	SNP	ENST00000358935.2	37	c.800G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC		0.353	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		4	210	0	0	0	1	0	4	210					A	94110927	G	A	94110927	3	1	489	1	0	0	0	0	1	0	0	0	9304	1087	38	1	822	1	MARCH5	10	94110927	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		94110927	41423820	27	39620											
TECTB	6975	broad.mit.edu	37	chr10	114057887	114057887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagatcacagggcaaccttCcaattcaatgctttccggtt	8	11	2	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr10:114057887C>T	ENST00000369422.3	+	7	732	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	244	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGCAACCTTCCAATTCAATG	0.522																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(730-732)ttC>ttT		tectorin beta							149	136	140					10																	114057887		2203	4300	6503	SO:0001819	synonymous_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114057887C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.732C>T	10.37:g.114057887C>T							p.F244F	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	7	732	+		Colorectal(252;0.198)	244			ZP.		Q5VW53	Silent	SNP	ENST00000369422.3	37	c.732C>T	CCDS7571.1																																																																																				0.522	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		40	63	0	0	0	1	0	40	63					T	114057887	C	T	114057887	2	4	489	1	0	0	0	0	0	0	0	1	15745	854	30	2		2	TECTB	10	114057887	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	19946960	114057887	21476860	28	39621											
OSBPL5	114879	broad.mit.edu	37	chr11	3128640	3128640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagggttctctctctcCgacttgtctgagaatgcatc	8	13	4	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:3128640C>T	ENST00000263650.7	-	9	1071	c.912G>A	c.(910-912)tcG>tcA	p.S304S	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Silent_p.S236S|OSBPL5_ENST00000348039.5_Silent_p.S236S|OSBPL5_ENST00000525498.1_Silent_p.S215S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	304					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCTCTCTCTCCGACTTGTCTG	0.612																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(910-912)tcG>tcA		oxysterol binding protein-like 5							173	171	172					11																	3128640		2202	4298	6500	SO:0001819	synonymous_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128640C>T	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.912G>A	11.37:g.3128640C>T						OSBPL5_ENST00000389989.3_Silent_p.S236S|OSBPL5_ENST00000525498.1_Silent_p.S215S|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.S236S	p.S304S	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1071	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	304					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	c.912G>A	CCDS31344.1																																																																																				0.612	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			6	320	0	0	0	1	0	6	320					T	3128640	C	T	3128640	2	4	489	1	0	0	0	0	0	0	0	1	11280	639	23	1		1	OSBPL5	11	3128640	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		3128640	131877876	29	39622											
CREBZF	58487	broad.mit.edu	37	chr11	85375402	85375402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcactgctgctgctgCagcctccgataccgtttaac	8	15	1	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:85375402C>A	ENST00000527447.1	-	1	744	c.518G>T	c.(517-519)tGc>tTc	p.C173F	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	173					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gctgctgctgcagcctccgat	0.642											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(517-519)tGc>tTc		CREB/ATF bZIP transcription factor							12	15	14					11																	85375402		2050	4179	6229	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375402C>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"basic leucine zipper proteins"	24905	protein-coding gene	gene with protein product	"Zhangfei"	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.518G>T	11.37:g.85375402C>A	ENSP00000433459:p.Cys173Phe		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	p.C173F	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	744	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	173					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.518G>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079529	0.55753	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.52	4.52	0.55395	.	0.297442	0.24647	N	0.036748	T	0.32133	0.0819	N	0.14661	0.345	0.40684	D	0.982335	B	0.33379	0.41	B	0.29440	0.102	T	0.18335	-1.0340	8	.	.	.	-2.4512	12.6401	0.56705	0.0:1.0:0.0:0.0	.	173	Q9NS37	ZHANG_HUMAN	F	91;173	.	.	C	-	2	0	CREBZF	85053050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.670000	0.54569	2.356000	0.79943	0.561000	0.74099	TGC		0.642	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		3	49	1	0	1	1	1	3	49					A	85375402	C	A	85375402	3	1	489	1	0	0	0	0	1	0	0	0	3863	710	25	4	550	4	CREBZF	11	85375402	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	82246762	85375402	49631114	30	39623											
DNAH10	196385	broad.mit.edu	37	chr12	124297882	124297882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattctgatcaatcttatgAagtatctacaaaaatggaag	8	5	4	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr12:124297882A>G	ENST00000409039.3	+	19	2987	c.2962A>G	c.(2962-2964)Aag>Gag	p.K988E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	988	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)			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)		CAATCTTATGAAGTATCTACA	0.373																																						ENST00000409039.3																			0				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						c.(2962-2964)Aag>Gag		dynein, axonemal, heavy chain 10							120	118	119					12																	124297882		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124297882A>G	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.2962A>G	12.37:g.124297882A>G	ENSP00000386770:p.Lys988Glu						p.K988E	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	19	2987	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		988			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2962A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088548	0.36855	.	.	ENSG00000197653	ENST00000409039	T	0.20598	2.06	5.83	5.83	0.93111	.	0.079324	0.50627	D	0.000102	T	0.23766	0.0575	M	0.75777	2.31	0.31471	N	0.668327	P;B;B	0.36330	0.548;0.248;0.047	B;B;B	0.38264	0.269;0.133;0.04	T	0.20638	-1.0269	10	0.05721	T	0.95	.	12.0372	0.53431	0.9313:0.0:0.0687:0.0	.	988;863;988	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	E	988	ENSP00000386770:K988E	ENSP00000386770:K988E	K	+	1	0	DNAH10	122863835	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.468000	0.60162	2.231000	0.72958	0.460000	0.39030	AAG		0.373	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	240	0	0	0	1	0	4	240					G	124297882	A	G	124297882	3	3	489	1	0	0	0	0	1	0	0	0	4598	247	9	3	3036	3	DNAH10	12	124297882	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		124297882	9554013	31	39624											
LCP1	3936	broad.mit.edu	37	chr13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgtacaaatgattgactcGagggttaacacccagggagt	11	9	0	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr13:46718596G>A	ENST00000398576.2	-	14	1622	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1234-1236)Cga>Tga		lymphocyte cytosolic protein 1 (L-plastin)							132	121	125					13																	46718596		2203	4300	6503	SO:0001587	stop_gained	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46718596G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1234C>T	13.37:g.46718596G>A	ENSP00000381581:p.Arg412*					LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*	p.R412*			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	14	1622	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Nonsense_Mutation	SNP	ENST00000398576.2	37	c.1234C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	41	8.637788	0.98895	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	.	.	.	5.91	5.06	0.68205	.	0.117460	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.5	16.4266	0.83816	0.0:0.1311:0.8689:0.0	.	.	.	.	X	412	.	ENSP00000315757:R412X	R	-	1	2	LCP1	45616597	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.829000	0.69316	1.488000	0.48433	0.555000	0.69702	CGA		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		6	215	0	0	0	1	0	6	215					A	46718596	G	A	46718596	4	1	489	1	0	0	0	0	0	1	0	0	8691	1066	37	1	673	1	LCP1	13	46718596	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		46718596	68451282	32	39625											
ITPK1	3705	broad.mit.edu	37	chr14	93483148	93483148	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggccggctaaggttcagcTgtgaggcagggaacacagac	15	10	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr14:93483148T>C	ENST00000267615.6	-	4	294		c.e4-2		ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site|ITPK1_ENST00000556954.1_Splice_Site			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AAGGTTCAGCTGTGAGGCAGG	0.577																																						ENST00000267615.6																			2	Unknown(2)	p.?(2)	lung(2)	endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.e4-2		inositol-tetrakisphosphate 1-kinase							84	71	75					14																	93483148		2203	4300	6503	SO:0001630	splice_region_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93483148T>C	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.121-2A>G	14.37:g.93483148T>C						ITPK1_ENST00000556954.1_Splice_Site|ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site				Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	4	294	-		all_cancers(154;0.077)|all_epithelial(191;0.247)						Q9BTL6|Q9H2E7	Splice_Site	SNP	ENST00000267615.6	37		CCDS9907.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776788	0.49786	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000267615;ENST00000311458;ENST00000556185;ENST00000555553;ENST00000553452;ENST00000557309	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8354	0.70180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITPK1	92552901	1.000000	0.71417	0.983000	0.44433	0.367000	0.29736	5.554000	0.67294	1.975000	0.57531	0.459000	0.35465	.		0.577	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	Intron	27	57	0	0	0	1	0	27	57					C	93483148	T	C	93483148	5	2	489	1	0	0	0	0	0	0	1	0	7916	1594	55	3	1205	3	ITPK1	14	93483148	Splice_Site	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08		93483148	13866392	33	39626											
RYR3	6263	broad.mit.edu	37	chr15	33840366	33840366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgggggagctgggactcGagccaggtctctttggagag	18	8	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:33840366G>A	ENST00000389232.4	+	9	846	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	259	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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)		GCTGGGACTCGAGCCAGGTCT	0.512																																						ENST00000389232.4																			0				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						c.(775-777)cGa>cAa		ryanodine receptor 3							45	49	48					15																	33840366		1882	4118	6000	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33840366G>A		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.776G>A	15.37:g.33840366G>A	ENSP00000373884:p.Arg259Gln					RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	9	846	+		all_lung(180;7.18e-09)	259			MIR 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.776G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	8.516	0.867612	0.17250	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.90955	-2.76;-2.76	5.22	5.22	0.72569	MIR motif (2);MIR (2);	0.146840	0.43919	D	0.000504	T	0.72748	0.3499	N	0.02916	-0.46	0.37599	D	0.92048	P;P	0.51791	0.948;0.91	B;B	0.35470	0.182;0.203	T	0.77294	-0.2641	10	0.16896	T	0.51	.	11.9972	0.53209	0.0795:0.0:0.9205:0.0	.	259;259	Q15413-2;Q15413	.;RYR3_HUMAN	Q	259	ENSP00000373884:R259Q;ENSP00000399610:R259Q	ENSP00000354735:R259Q	R	+	2	0	RYR3	31627658	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	4.063000	0.57499	2.724000	0.93272	0.655000	0.94253	CGA		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	25	0	0	0	1	0	4	25					A	33840366	G	A	33840366	3	1	489	1	0	0	0	0	1	0	0	0	13770	1058	37	1	810	1	RYR3	15	33840366	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		33840366	68691026	34	39627											
EIF2AK4	440275	broad.mit.edu	37	chr15	40257951	40257951	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagccactggtggctttgtCttgttgtatgagtgggtcct	13	8	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:40257951C>T	ENST00000263791.5	+	8	967	c.924C>T	c.(922-924)gtC>gtT	p.V308V	EIF2AK4_ENST00000382727.2_Silent_p.V308V|EIF2AK4_ENST00000559624.1_Silent_p.V308V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	308	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGGCTTTGTCTTGTTGTATG	0.398																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(922-924)gtC>gtT		eukaryotic translation initiation factor 2 alpha kinase 4							158	153	154					15																	40257951		1898	4140	6038	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40257951C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.924C>T	15.37:g.40257951C>T						EIF2AK4_ENST00000559624.1_Silent_p.V308V|EIF2AK4_ENST00000382727.2_Silent_p.V308V	p.V308V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	8	967	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	308			Protein kinase 1.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.924C>T	CCDS42016.1																																																																																				0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			101	110	0	0	0	1	0	101	110					T	40257951	C	T	40257951	2	4	489	1	0	0	0	0	0	0	0	1	4999	900	32	2		2	EIF2AK4	15	40257951	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	6417585	40257951	62273441	35	39628											
UNC45A	55898	broad.mit.edu	37	chr15	91486160	91486160	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatcctgcccgggagctgaAggtcctcatcagtaacctct	10	13	3	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:91486160A>T	ENST00000418476.2	+	8	915	c.875A>T	c.(874-876)aAg>aTg	p.K292M	UNC45A_ENST00000394275.2_Missense_Mutation_p.K277M|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	292					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)			CGGGAGCTGAAGGTCCTCATC	0.572																																						ENST00000394275.2																			0				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						c.(829-831)aAg>aTg		unc-45 homolog A (C. elegans)							119	119	119					15																	91486160		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91486160A>T		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.875A>T	15.37:g.91486160A>T	ENSP00000407487:p.Lys292Met					UNC45A_ENST00000418476.2_Missense_Mutation_p.K292M|UNC45A_ENST00000553671.2_3'UTR	p.K277M	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		11	1665	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		292					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.830A>T	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794921	0.70452	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.50277	0.75;0.75	6.04	6.04	0.98038	Armadillo-like helical (1);	0.118294	0.64402	D	0.000002	T	0.65964	0.2742	L	0.58101	1.795	0.46798	D	0.999204	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.67248	-0.5718	10	0.62326	D	0.03	-40.5888	16.6244	0.84952	1.0:0.0:0.0:0.0	.	292;277	Q9H3U1;A8K6F7	UN45A_HUMAN;.	M	277;292	ENSP00000377816:K277M;ENSP00000407487:K292M	ENSP00000377816:K277M	K	+	2	0	UNC45A	89287164	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.566000	0.53805	2.323000	0.78572	0.529000	0.55759	AAG		0.572	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		4	261	0	0	0	1	0	4	261					T	91486160	A	T	91486160	3	4	489	1	0	0	0	0	1	0	0	0	16985	72	3	5	905	5	UNC45A	15	91486160	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	51228209	91486160	11045232	36	39629											
GRIN2A	2903	broad.mit.edu	37	chr16	9858656	9858656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcttttgggtgagtcCattcttgaggagttcatgtt	12	7	3	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr16:9858656C>A	ENST00000396573.2	-	14	3054	c.2745G>T	c.(2743-2745)atG>atT	p.M915I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	915					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)	TGGGTGAGTCCATTCTTGAGG	0.463																																						ENST00000396573.2																			0				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						c.(2743-2745)atG>atT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						224	196	205					16																	9858656		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858656C>A		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.2745G>T	16.37:g.9858656C>A	ENSP00000379818:p.Met915Ile					GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I	p.M915I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3054	-			915					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2745G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.983260	0.02180	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.52	0.817	0.18773	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.483223	0.23770	N	0.044730	T	0.03348	0.0097	N	0.04043	-0.29	0.33919	D	0.640581	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.35151	-0.9800	9	.	.	.	.	2.5839	0.04826	0.315:0.4272:0.1001:0.1578	.	758;915;915	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	915;915;758;915;915	ENSP00000379818:M915I;ENSP00000385872:M915I;ENSP00000441572:M758I;ENSP00000332549:M915I;ENSP00000379820:M915I	.	M	-	3	0	GRIN2A	9766157	0.883000	0.30277	0.981000	0.43875	0.885000	0.51271	0.027000	0.13621	0.277000	0.22141	-1.268000	0.01426	ATG		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	408	1	0	6.5536e-12	1	7.51479e-12	6	408					A	9858656	C	A	9858656	3	1	489	1	0	0	0	0	1	0	0	0	6779	594	21	4	1653	4	GRIN2A	16	9858656	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		9858656	80496097	37	39630											
ELMO3	1874	broad.mit.edu	37	chr16	67235520	67235520	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggagccgcgcatgcGgacgcccctggacccctaca	13	17	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr16:67235520G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q|ELMO3_ENST00000393997.2_Missense_Mutation_p.R351Q|ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|MIR328_ENST00000385213.1_RNA	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)	p.R351Q(2)		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)		CCGCGCATGCGGACGCCCCTG	0.587																																						ENST00000393997.2																			2	Substitution - Missense(2)	p.R351Q(2)	kidney(2)	cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(1051-1053)cGg>cAg		engulfment and cell motility 3							47	53	51					16																	67235520		2075	4223	6298	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67235520G>A	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.67235520G>A						ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q	p.R351Q	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	10	1109	+		Ovarian(137;0.0563)	298			ELMO.		A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1052G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	6.903	0.536253	0.13188	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.28666	1.6;1.6	5.31	3.35	0.38373	Engulfment/cell motility, ELMO (1);	0.255518	0.43416	N	0.000564	T	0.13286	0.0322	N	0.13235	0.315	0.43628	D	0.996011	P;P;P	0.39404	0.473;0.672;0.672	B;B;B	0.30495	0.115;0.116;0.116	T	0.09271	-1.0682	10	0.22706	T	0.39	-30.0339	8.404	0.32603	0.24:0.0:0.76:0.0	.	298;334;351	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	334;351	ENSP00000354077:R334Q;ENSP00000377566:R351Q	ENSP00000354077:R334Q	R	+	2	0	ELMO3	65793021	1.000000	0.71417	0.850000	0.33497	0.001000	0.01503	1.321000	0.33678	1.243000	0.43853	-0.258000	0.10820	CGG		0.587	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		17	98	0	0	0	1	0	17	98					A	67235520	G	A	67235520	1	1	489	0	1	0	0	0	0	0	0	0	5067	1116	39	1		1	ELMO3	16	67235520	IGR	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	57376864	67235520	23119233	38	39631											
RNF135	84282	broad.mit.edu	37	chr17	29325786	29325786	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccacaaccctatcgctgGagctgtgagaggttttctac	10	13	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:29325786G>A	ENST00000328381.5	+	5	1749	c.876G>A	c.(874-876)tgG>tgA	p.W292*	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	292	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCTATCGCTGGAGCTGTGAGA	0.532																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(874-876)tgG>tgA		ring finger protein 135							79	74	76					17																	29325786		2203	4300	6503	SO:0001587	stop_gained	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325786G>A	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"RING-type (C3HC4) zinc fingers"	21158	protein-coding gene	gene with protein product	"riplet"	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.876G>A	17.37:g.29325786G>A	ENSP00000328340:p.Trp292*					RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	p.W292*	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1749	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	292			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Nonsense_Mutation	SNP	ENST00000328381.5	37	c.876G>A	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	G	40	8.434410	0.98810	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	.	.	.	5.11	4.07	0.47477	.	0.188205	0.26609	N	0.023430	.	.	.	.	.	.	0.29858	N	0.827872	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.8634	13.0915	0.59169	0.0:0.1625:0.8374:0.0	.	.	.	.	X	292;111	.	ENSP00000328340:W292X	W	+	3	0	RNF135	26349912	0.028000	0.19301	0.123000	0.21794	0.005000	0.04900	1.253000	0.32886	2.544000	0.85801	0.655000	0.94253	TGG		0.532	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		8	129	0	0	0	1	0	8	129					A	29325786	G	A	29325786	4	1	489	1	0	0	0	0	0	1	0	0	13440	1183	41	2	963	2	RNF135	17	29325786	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		29325786	51869424	39	39632											
IKZF3	22806	broad.mit.edu	37	chr17	37922280	37922280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtctcttgggcagatgggCgggggcttgaggagttcgta	19	6	1	2	rs371505659		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:37922280C>T	ENST00000346872.3	-	8	1354	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000377958.2_Silent_p.P344P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000346243.3_Silent_p.P353P|IKZF3_ENST00000439016.2_Silent_p.P336P|RP11-94L15.2_ENST00000488188.2_lincRNA	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	431					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAGATGGGCGGGGGCTTGA	0.552																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1291-1293)ccG>ccA		IKAROS family zinc finger 3 (Aiolos)		C	,,,,,	0,4406		0,0,2203	127	129	128		1293,1125,1176,1176,1008,1059	-5.4	1	17		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IKZF3	NM_012481.3,NM_183228.1,NM_183229.1,NM_183230.1,NM_183231.1,NM_183232.1	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	431/510,375/454,392/471,392/471,336/415,353/432	37922280	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922280C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1293G>A	17.37:g.37922280C>T						IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000346243.3_Silent_p.P353P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000439016.2_Silent_p.P336P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000377958.2_Silent_p.P344P	p.P431P	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1354	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		431					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	c.1293G>A	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	1.396	-0.579488	0.03854	0.0	1.16E-4	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.72	-5.39	0.02664	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39522	-0.9610	4	.	.	.	-8.615	3.1598	0.06516	0.2018:0.4228:0.1611:0.2143	.	.	.	.	H	346;385	.	.	R	-	2	0	IKZF3	35175806	0.000000	0.05858	0.963000	0.40424	0.352000	0.29268	-2.346000	0.01096	-0.845000	0.04179	-1.073000	0.02249	CGC		0.552	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		17	219	0	0	0	1	0	17	219					T	37922280	C	T	37922280	2	4	489	1	0	0	0	0	0	0	0	1	7616	755	27	1		1	IKZF3	17	37922280	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	8596494	37922280	43272930	40	39633											
MIER2	54531	broad.mit.edu	37	chr19	313566	313566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaacgccgcttcaccgCcctgtacaggaactcctcca	8	18	1	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:313566C>T	ENST00000264819.4	-	8	743	c.733G>A	c.(733-735)Gcg>Acg	p.A245T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	245	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				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)		CGCTTCACCGCCCTGTACAGG	0.637																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(733-735)Gcg>Acg		mesoderm induction early response 1, family member 2							82	84	83					19																	313566		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:313566C>T	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.733G>A	19.37:g.313566C>T	ENSP00000264819:p.Ala245Thr						p.A245T	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		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)	8	743	-		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)	245			ELM2.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.733G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353149	0.61293	.	.	ENSG00000105556	ENST00000264819	T	0.38240	1.15	4.9	4.9	0.64082	ELM2 domain (2);	0.000000	0.46442	D	0.000288	T	0.52661	0.1748	L	0.49350	1.555	0.58432	D	0.99999	D	0.56521	0.976	D	0.67231	0.95	T	0.44406	-0.9330	10	0.30078	T	0.28	-16.273	17.0503	0.86517	0.0:1.0:0.0:0.0	.	245	Q8N344	MIER2_HUMAN	T	245	ENSP00000264819:A245T	ENSP00000264819:A245T	A	-	1	0	MIER2	264566	1.000000	0.71417	0.190000	0.23270	0.456000	0.32438	6.627000	0.74258	2.295000	0.77249	0.306000	0.20318	GCG		0.637	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		15	192	0	0	0	1	0	15	192					T	313566	C	T	313566	3	4	489	1	0	0	0	0	1	0	0	0	9581	739	26	2	932	2	MIER2	19	313566	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		313566	58815417	41	39634											
MYO1F	4542	broad.mit.edu	37	chr19	8587611	8587611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggctcccagggatgtgGacggagggccccggggaggc	20	11	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:8587611G>A	ENST00000338257.8	-	26	3224	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	986				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGGGATGTGGACGGAGGGCC	0.687																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2956-2958)tCc>tTc		myosin IF							18	21	20					19																	8587611		1897	4109	6006	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8587611G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2957C>T	19.37:g.8587611G>A	ENSP00000344871:p.Ser986Phe						p.S986F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			26	3224	-			986	IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058).				Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2957C>T	CCDS42494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.214|8.214	0.800946|0.800946	0.16397|0.16397	.|.	.|.	ENSG00000142347|ENSG00000142347	ENST00000305795|ENST00000338257	.|D	.|0.87729	.|-2.29	5.27|5.27	4.24|4.24	0.50183|0.50183	.|.	0.076427|.	0.53938|.	D|.	0.000051|.	T|T	0.81837|0.81837	0.4907|0.4907	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B	.|0.20671	.|0.047	.|B	.|0.21546	.|0.035	T|T	0.72427|0.72427	-0.4297|-0.4297	7|9	0.33940|0.54805	T|T	0.23|0.06	.|.	7.6751|7.6751	0.28481|0.28481	0.0839:0.0:0.7538:0.1623|0.0839:0.0:0.7538:0.1623	.|.	.|986	.|O00160	.|MYO1F_HUMAN	S|F	1030|986	.|ENSP00000344871:S986F	ENSP00000304899:P1030S|ENSP00000344871:S986F	P|S	-|-	1|2	0|0	MYO1F|MYO1F	8493611|8493611	0.902000|0.902000	0.30710|0.30710	0.012000|0.012000	0.15200|0.15200	0.232000|0.232000	0.25224|0.25224	3.206000|3.206000	0.51098|0.51098	1.230000|1.230000	0.43646|0.43646	0.455000|0.455000	0.32223|0.32223	CCA|TCC		0.687	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			20	25	0	0	0	1	0	20	25					A	8587611	G	A	8587611	3	1	489	1	0	0	0	0	1	0	0	0	10073	1174	41	2	351	2	MYO1F	19	8587611	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	8274045	8587611	50541372	42	39635											
DOCK6	57572	broad.mit.edu	37	chr19	11352784	11352784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatctccttggtgggcCggcccctggggtccgggtag	16	13	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:11352784C>T	ENST00000294618.7	-	14	1591	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	527					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						CTTGGTGGGCCGGCCCCTGGG	0.622																																						ENST00000294618.7																			0				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						c.(1579-1581)cGg>cAg		dedicator of cytokinesis 6							25	27	26					19																	11352784		1837	4084	5921	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11352784C>T		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.1580G>A	19.37:g.11352784C>T	ENSP00000294618:p.Arg527Gln						p.R527Q	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			14	1591	-			527					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1580G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263496	0.95399	.	.	ENSG00000130158	ENST00000294618	T	0.39406	1.08	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.74258	2.255	0.80722	D	1	D	0.55800	0.973	P	0.49528	0.614	T	0.63440	-0.6637	10	0.87932	D	0	-23.3614	14.8543	0.70323	0.0:1.0:0.0:0.0	.	527	Q96HP0	DOCK6_HUMAN	Q	527	ENSP00000294618:R527Q	ENSP00000294618:R527Q	R	-	2	0	DOCK6	11213784	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.327000	0.79147	1.772000	0.52199	0.462000	0.41574	CGG		0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		3	36	0	0	0	1	0	3	36					T	11352784	C	T	11352784	3	4	489	1	0	0	0	0	1	0	0	0	4691	652	23	1	4703	1	DOCK6	19	11352784	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	2765173	11352784	47776199	43	39636											
ZNF254	9534	broad.mit.edu	37	chr19	24310731	24310731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcctttaatcggtcctcGcacctcaccacagataagat	6	13	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:24310731G>A	ENST00000357002.4	+	4	2044	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	ZNF254_ENST00000342944.6_Silent_p.S558S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	643					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCGGTCCTCGCACCTCACCA	0.373																																						ENST00000357002.4																			0											c.(1927-1929)tcG>tcA		zinc finger protein 254							82	86	85					19																	24310731		2203	4295	6498	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310731G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1929G>A	19.37:g.24310731G>A						ZNF254_ENST00000342944.6_Silent_p.S558S	p.S643S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	2044	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	643					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1929G>A	CCDS32983.1																																																																																				0.373	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		21	233	0	0	0	1	0	21	233					A	24310731	G	A	24310731	2	1	489	1	0	0	0	0	0	0	0	1	17795	1074	38	1		1	ZNF254	19	24310731	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	12957947	24310731	34818252	44	39637											
CIC	23152	broad.mit.edu	37	chr19	42795426	42795450	+	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	CTTCAGGTGGCACCTGCCCCAGCAC	-													tgcccacgctgccccagcagCttcaggtggcacctgcccca					rs199728488|rs190963962|rs368738596		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	ENST00000575354.2	+	10	2546_2570	c.2506_2530delCTTCAGGTGGCACCTGCCCCAGCAC	c.(2506-2532)cttcaggtggcacctgccccagcaccafs	p.LQVAPAPAP836fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.LQVAPAPAP1745fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	836	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)				GCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGG	0.667			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(5233-5259)cafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	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.2506_2530delCTTCAGGTGGCACCTGCCCCAGCAC	19.37:g.42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	ENSP00000458663:p.Leu836fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs	p.LQVAPAPAP1745fs			Q96RK0	CIC_HUMAN			11	5301_5325	+		Prostate(69;0.00682)	836					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5233_5257delCTTCAGGTGGCACCTGCCCCAGCAC	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	11						18	11	---	---	---	---	-	42795450	CTTCAGGTGGCACCTGCCCCAGCAC	-	42795426	7	5	489	1	0	1	0	1	0	0	0	0	3424	797	28	0	2544	0	CIC	19	42795426	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	TCGA-TQ-A7RQ-01A-11D-A33T-08	18484695	42795426	16333557	45	39638											
SIRPA	140885	broad.mit.edu	37	chr20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccaacgtggaccccgTaggagagagcgtgtcctaca	12	13	0	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(601-603)gTa>gCa		signal-regulatory protein alpha							184	161	169					20																	1902206		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902206T>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.602T>C	20.37:g.1902206T>C	ENSP00000351621:p.Val201Ala					SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A|SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A	p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	754	+			201		VG -> AR.	Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.602T>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.399729	0.01165	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00603	6.28;6.28;6.28	4.51	-3.63	0.04529	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.260270	0.01824	N	0.034250	T	0.00300	0.0009	N	0.02391	-0.57	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.44375	-0.9332	10	0.09338	T	0.73	.	3.967	0.09436	0.6183:0.1704:0.1094:0.102	.	181;201;201	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	201	ENSP00000382941:V201A;ENSP00000348307:V201A;ENSP00000351621:V201A	ENSP00000348307:V201A	V	+	2	0	SIRPA	1850206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.252000	0.02880	-0.348000	0.08286	-1.353000	0.01230	GTA		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	188	0	0	0	1	0	4	188					C	1902206	T	C	1902206	3	2	489	1	0	0	0	0	1	0	0	0	14332	1638	57	3	612	3	SIRPA	20	1902206	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08		1902206	61123314	46	39639											
ASB9	140462	broad.mit.edu	37	chrX	15268608	15268608	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcacaagccaaatagAgtggagtgcccaggtggctg	14	8	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:15268608A>T	ENST00000380488.4	-	5	785	c.512T>A	c.(511-513)cTc>cAc	p.L171H	ASB9_ENST00000380483.3_Missense_Mutation_p.L161H|ASB9_ENST00000546332.1_Missense_Mutation_p.L171H|ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	171					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCCAAATAGAGTGGAGTGCC	0.458																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(511-513)cTc>cAc		ankyrin repeat and SOCS box containing 9							94	88	90					X																	15268608		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15268608A>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.512T>A	X.37:g.15268608A>T	ENSP00000369855:p.Leu171His					ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.L161H|ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000380488.4_Missense_Mutation_p.L171H	p.L171H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			6	995	-	Hepatocellular(33;0.183)		171					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.512T>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884047	0.91814	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	D;D;D;D	0.91407	-2.84;-1.59;-1.59;-1.59	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	H	0.95982	3.75	0.30190	N	0.799564	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	0.95153	0.8274	10	0.87932	D	0	-14.528	14.19	0.65633	1.0:0.0:0.0:0.0	.	142;161;171;171	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	H	161;171;171;171	ENSP00000369850:L161H;ENSP00000369852:L171H;ENSP00000369855:L171H;ENSP00000438943:L171H	ENSP00000369850:L161H	L	-	2	0	ASB9	15178529	0.998000	0.40836	0.003000	0.11579	0.837000	0.47467	7.188000	0.77739	1.949000	0.56562	0.430000	0.28490	CTC		0.458	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			9	246	0	0	0	1	0	9	246					T	15268608	A	T	15268608	3	4	489	1	0	0	0	0	1	0	0	0	1030	304	11	5	413	5	ASB9	23	15268608	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		15268608	140001952	47	39640											
BCOR	54880	broad.mit.edu	37	chrX	39922919	39922919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcttctgttgcctttggcCtctgcccttttcctgccagg	9	15	2	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:39922919C>A	ENST00000378444.4	-	8	4017	c.3789G>T	c.(3787-3789)gaG>gaT	p.E1263D	BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000342274.4_Missense_Mutation_p.E1229D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1263					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						TGCCTTTGGCCTCTGCCCTTT	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(3685-3687)gaG>gaT		BCL6 corepressor							229	177	194					X																	39922919		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922919C>A	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.3789G>T	X.37:g.39922919C>A	ENSP00000367705:p.Glu1263Asp					BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000378444.4_Missense_Mutation_p.E1263D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D	p.E1229D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			8	4049	-			1263					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3687G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371373	0.61624	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.73152	-0.72;0.66;0.82;0.8;0.66;0.8	5.67	3.67	0.42095	.	.	.	.	.	T	0.73528	0.3598	L	0.32530	0.975	0.45718	D	0.998627	D;D;D	0.76494	0.999;0.998;0.987	D;D;P	0.75484	0.957;0.986;0.85	T	0.72214	-0.4358	9	0.72032	D	0.01	-29.2593	8.2076	0.31465	0.0:0.7182:0.0:0.2818	.	1211;1263;1229	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	D	133;106;1211;1229;1263;1229;1229	ENSP00000408006:E133D;ENSP00000367724:E106D;ENSP00000367716:E1211D;ENSP00000380512:E1229D;ENSP00000367705:E1263D;ENSP00000345923:E1229D	ENSP00000345923:E1229D	E	-	3	2	BCOR	39807863	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	1.804000	0.38873	0.390000	0.25115	0.529000	0.55759	GAG		0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		145	198	1	0	1.81449e-70	1	2.10874e-70	145	198					A	39922919	C	A	39922919	3	1	489	1	0	0	0	0	1	0	0	0	1386	680	24	4	1510	4	BCOR	23	39922919	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	24654311	39922919	115347641	48	39641											
USP11	8237	broad.mit.edu	37	chrX	47099838	47099838	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggttctcgatgcggcccttGagactgggcaggtaagggtg	17	9	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:47099838G>A	ENST00000218348.3	+	5	799	c.799G>A	c.(799-801)Gag>Aag	p.E267K	USP11_ENST00000377107.2_Missense_Mutation_p.E224K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	267					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						TGCGGCCCTTGAGACTGGGCA	0.557																																						ENST00000377107.2																			0				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						c.(670-672)Gag>Aag		ubiquitin specific peptidase 11							90	78	82					X																	47099838		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099838G>A	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.799G>A	X.37:g.47099838G>A	ENSP00000218348:p.Glu267Lys					USP11_ENST00000218348.3_Missense_Mutation_p.E267K	p.E224K			P51784	UBP11_HUMAN			5	1024	+			267					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.670G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	7.842	0.722074	0.15372	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19938	2.12;2.11	5.56	1.94	0.25998	.	0.544994	0.19455	N	0.113836	T	0.07503	0.0189	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26430	-1.0103	10	0.35671	T	0.21	-14.2797	3.854	0.08967	0.4582:0.1913:0.3504:0.0	.	267	P51784	UBP11_HUMAN	K	224;267	ENSP00000366311:E224K;ENSP00000218348:E267K	ENSP00000218348:E267K	E	+	1	0	USP11	46984782	0.015000	0.18098	0.229000	0.23960	0.312000	0.27988	0.568000	0.23623	0.380000	0.24823	0.436000	0.28706	GAG		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		4	92	0	0	0	1	0	4	92					A	47099838	G	A	47099838	3	1	489	1	0	0	0	0	1	0	0	0	17039	1291	45	2	817	2	USP11	23	47099838	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	7176919	47099838	108170722	49	39642											
WNK3	65267	broad.mit.edu	37	chrX	54324778	54324778	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctaactccaccctcagtcCtgtatcctcagcaaaaaatg	5	14	2	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:54324778C>A	ENST00000375159.2	-	6	1227	c.1228G>T	c.(1228-1230)Gga>Tga	p.G410*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.G410*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.G410*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	410					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						ACCCTCAGTCCTGTATCCTCA	0.373																																						ENST00000354646.2																			0				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						c.(1228-1230)Gga>Tga		WNK lysine deficient protein kinase 3							104	94	97					X																	54324778		2203	4300	6503	SO:0001587	stop_gained	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54324778C>A	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.1228G>T	X.37:g.54324778C>A	ENSP00000364301:p.Gly410*					WNK3_ENST00000375159.2_Nonsense_Mutation_p.G410*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.G410*	p.G410*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			7	1666	-			410					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	ENST00000375159.2	37	c.1228G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	38	7.078845	0.98048	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	4.93	4.93	0.64822	.	0.000000	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5517	16.0929	0.81102	0.0:1.0:0.0:0.0	.	.	.	.	X	410	.	ENSP00000346667:G410X	G	-	1	0	WNK3	54341503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.049000	0.60858	0.513000	0.50165	GGA		0.373	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		4	183	1	0	0.000602214	1	0.000655575	4	183					A	54324778	C	A	54324778	4	1	489	1	0	0	0	0	0	1	0	0	17376	690	24	4	4246	4	WNK3	23	54324778	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	7224940	54324778	100945782	50	39643											
ITIH5L	347365	broad.mit.edu	37	chrX	54783460	54783460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaggactccacgaacttgGattccaccattgattcagac	7	12	2	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:54783460G>A	ENST00000218436.6	-	8	3076	c.3047C>T	c.(3046-3048)tCc>tTc	p.S1016F		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1016					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CACGAACTTGGATTCCACCAT	0.527																																						ENST00000218436.6																			0											c.(3046-3048)tCc>tTc		inter-alpha-trypsin inhibitor heavy chain family, member 6							84	68	74					X																	54783460		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783460G>A	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.3047C>T	X.37:g.54783460G>A	ENSP00000218436:p.Ser1016Phe						p.S1016F	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	3076	-			1016					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3047C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	2.221	-0.378453	0.05000	.	.	ENSG00000102313	ENST00000218436	T	0.02763	4.17	4.35	1.44	0.22558	.	0.239880	0.16923	U	0.194007	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45585	-0.9251	10	0.66056	D	0.02	.	4.0281	0.09697	0.1892:0.0:0.3379:0.4728	.	1016	Q6UXX5	ITH5L_HUMAN	F	1016	ENSP00000218436:S1016F	ENSP00000218436:S1016F	S	-	2	0	ITIH5L	54800185	0.001000	0.12720	0.003000	0.11579	0.008000	0.06430	0.429000	0.21412	-0.131000	0.11578	-1.003000	0.02500	TCC		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		9	52	0	0	0	1	0	9	52					A	54783460	G	A	54783460	3	1	489	1	0	0	0	0	1	0	0	0	7908	1174	41	2	918	2	ITIH5L	23	54783460	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	458682	54783460	100487100	51	39644											
CDX4	1046	broad.mit.edu	37	chrX	72667179	72667179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcacagctgggacaggCggcacagggggcggtgggag	22	9	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:72667179C>T	ENST00000373514.2	+	1	90	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	30					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)					CTGGGACAGGCGGCACAGGGG	0.607																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(88-90)ggC>ggT		caudal type homeobox 4							31	31	31					X																	72667179		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667179C>T	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.90C>T	X.37:g.72667179C>T							p.G30G	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	90	+	Renal(35;0.156)		30					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.90C>T	CCDS14424.1																																																																																				0.607	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		41	52	0	0	0	1	0	41	52					T	72667179	C	T	72667179	2	4	489	1	0	0	0	0	0	0	0	1	3184	755	27	1		1	CDX4	23	72667179	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	17883719	72667179	82603381	52	39645											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984645	104984645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatgttgaaaaccgaAatggacggaaacatgccagt	10	10	0	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:104984645A>C	ENST00000372582.1	+	8	1765	c.1009A>C	c.(1009-1011)Aat>Cat	p.N337H	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	337	Ig-like C2-type 3.				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						TGAAAACCGAAATGGACGGAA	0.378																																						ENST00000372582.1																			0				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						c.(1009-1011)Aat>Cat		interleukin 1 receptor accessory protein-like 2							77	66	70					X																	104984645		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984645A>C	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.1009A>C	X.37:g.104984645A>C	ENSP00000361663:p.Asn337His					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR	p.N337H	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			8	1765	+			337			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1009A>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867468	0.32977	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.76709	-1.04;-1.04	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75199	0.3817	L	0.37800	1.135	0.80722	D	1	D	0.62365	0.991	P	0.51999	0.687	T	0.71414	-0.4600	10	0.15499	T	0.54	.	13.8962	0.63773	1.0:0.0:0.0:0.0	.	337	Q9NP60	IRPL2_HUMAN	H	337	ENSP00000361663:N337H;ENSP00000344976:N337H	ENSP00000344976:N337H	N	+	1	0	IL1RAPL2	104871301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.097000	0.64542	1.878000	0.54408	0.486000	0.48141	AAT		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		14	193	0	0	0	1	0	14	193					C	104984645	A	C	104984645	3	2	489	1	0	0	0	0	1	0	0	0	7662	14	1	5	1035	5	IL1RAPL2	23	104984645	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	32317466	104984645	50285915	53	39646											
GPR101	83550	broad.mit.edu	37	chrX	136113803	136113803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgtggctgctgttactctCgcgcgtgctgttggtgcagg	16	10	1	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:136113803C>T	ENST00000298110.1	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	11						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)					CTGTTACTCTCGCGCGTGCTG	0.632																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(31-33)Gag>Aag		G protein-coupled receptor 101							94	53	67					X																	136113803		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113803C>T	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.31G>A	X.37:g.136113803C>T	ENSP00000298110:p.Glu11Lys						p.E11K	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	30	-	Acute lymphoblastic leukemia(192;0.000127)		11					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.31G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362534	0.24684	.	.	ENSG00000165370	ENST00000298110	T	0.37752	1.18	4.79	3.84	0.44239	.	.	.	.	.	T	0.19725	0.0474	N	0.24115	0.695	0.09310	N	1	B	0.32071	0.355	B	0.17722	0.019	T	0.13522	-1.0506	9	0.15499	T	0.54	-4.2951	9.0176	0.36179	0.0:0.8738:0.0:0.1262	.	11	Q96P66	GP101_HUMAN	K	11	ENSP00000298110:E11K	ENSP00000298110:E11K	E	-	1	0	GPR101	135941469	0.003000	0.15002	0.005000	0.12908	0.506000	0.33950	1.526000	0.35964	0.805000	0.34159	0.544000	0.68410	GAG		0.632	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			41	87	0	0	0	1	0	41	87					T	136113803	C	T	136113803	3	4	489	1	0	0	0	0	1	0	0	0	6622	893	31	1	1498	1	GPR101	23	136113803	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	31129158	136113803	19156757	54	39647											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		9	573						9	573	---	---	---	---	-	140994641	CTC	-	140994639	7	5	489	1	0	1	0	1	0	0	0	0	9180	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-TQ-A7RQ-01A-11D-A33T-08	4880836	140994639	14275921	55	39648											
EMD	2010	broad.mit.edu	37	chrX	153608123	153608123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggctctcgccccccagCtcgtccgccgcctcctctta	9	22	2	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:153608123C>T	ENST00000369842.4	+	2	444	c.156C>T	c.(154-156)agC>agT	p.S52S	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	52	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	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)					CGCCCCCCAGCTCGTCCGCCG	0.672																																						ENST00000369842.4																			0				lung(5)	5						c.(154-156)agC>agT		emerin							16	22	20					X																	153608123		2083	4067	6150	SO:0001819	synonymous_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608123C>T	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.156C>T	X.37:g.153608123C>T						EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	p.S52S	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			2	444	+	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)		52			Interaction with F-actin (Probable).		Q6FI02	Silent	SNP	ENST00000369842.4	37	c.156C>T	CCDS14745.1																																																																																				0.672	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			61	85	0	0	0	1	0	61	85					T	153608123	C	T	153608123	2	4	489	1	0	0	0	0	0	0	0	1	5087	796	28	2		2	EMD	23	153608123	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	12613484	153608123	1662437	56	39649											
F8	2157	broad.mit.edu	37	chrX	154158011	154158011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttgaggtgtcatccaCaattatccttttttcaagtt	8	8	2	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:154158011C>T	ENST00000360256.4	-	14	4254	c.4054G>A	c.(4054-4056)Gtg>Atg	p.V1352M		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1352	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTGTCATCCACAATTATCCTT	0.423																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4054-4056)Gtg>Atg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						252	209	224					X																	154158011		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158011C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4054G>A	X.37:g.154158011C>T	ENSP00000353393:p.Val1352Met						p.V1352M	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4254	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1352			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4054G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	9.125	1.009990	0.19277	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	4.71	-3.72	0.04411	.	3.170210	0.01390	N	0.013230	D	0.96200	0.8761	L	0.40543	1.245	0.09310	N	1	B	0.32653	0.379	B	0.28305	0.088	D	0.92201	0.5768	10	0.48119	T	0.1	0.0743	1.3166	0.02108	0.2543:0.3854:0.1078:0.2525	.	1352	P00451	FA8_HUMAN	M	1352	ENSP00000353393:V1352M	ENSP00000353393:V1352M	V	-	1	0	F8	153811205	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.666000	0.05280	-1.809000	0.01232	-0.196000	0.12772	GTG		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			6	457	0	0	0	1	0	6	457					T	154158011	C	T	154158011	3	4	489	1	0	0	0	0	1	0	0	0	5350	478	17	2	3081	2	F8	23	154158011	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	549888	154158011	1112549	57	39650											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220345393	220345393	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtctcatcgatggccacTatagggataggagaaaacag	12	8	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:220345393T>C	ENST00000358951.2	-	23	2533		c.e23-2			NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						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)		CGATGGCCACTATAGGGATAG	0.423																																						ENST00000358951.2																			0				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						c.e23-2		RAB3 GTPase activating protein subunit 2 (non-catalytic)							41	41	41					1																	220345393		2203	4300	6503	SO:0001630	splice_region_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220345393T>C	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.2417-2A>G	1.37:g.220345393T>C								NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	23	2533	-								A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Splice_Site	SNP	ENST00000358951.2	37		CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059301	0.76074	.	.	ENSG00000118873	ENST00000358951	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.59	0.76521	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB3GAP2	218412016	1.000000	0.71417	0.915000	0.36163	0.825000	0.46686	7.239000	0.78182	2.090000	0.63153	0.528000	0.53228	.		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	Intron	4	49	0	0	0	1	0	4	49					C	220345393	T	C	220345393	5	2	490	1	0	0	0	0	0	0	1	0	12936	1536	53	3	1818	3	RAB3GAP2	1	220345393	Splice_Site	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08		220345393	28905228	1	39651											
OR2M3	127062	broad.mit.edu	37	chr1	248367166	248367166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacggcccacatctgatcGctccccaacacaggacaaga	7	16	1	2	rs547891650		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:248367166G>A	ENST00000456743.1	+	1	835	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266						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)			ACATCTGATCGCTCCCCAACA	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(796-798)cGc>cAc		olfactory receptor, family 2, subfamily M, member 3							183	167	173					1																	248367166		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367166G>A		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.797G>A	1.37:g.248367166G>A	ENSP00000389625:p.Arg266His						p.R266H	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	835	+	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)		266					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.797G>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.883692	0.00532	.	.	ENSG00000228198	ENST00000456743	T	0.00084	8.75	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	1.645920	0.04293	N	0.345971	T	0.00073	0.0002	N	0.02916	-0.46	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.30090	-0.9990	10	0.02654	T	1	.	8.4848	0.33065	0.6469:0.14:0.2131:0.0	.	266	Q8NG83	OR2M3_HUMAN	H	266	ENSP00000389625:R266H	ENSP00000389625:R266H	R	+	2	0	OR2M3	246433789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.615000	0.00208	-1.765000	0.01303	-2.234000	0.00290	CGC		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		88	172	0	0	0	1	0	88	172					A	248367166	G	A	248367166	3	1	490	1	0	0	0	0	1	0	0	0	11011	1087	38	1	799	1	OR2M3	1	248367166	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	28021773	248367166	883455	2	39652											
APOB	338	broad.mit.edu	37	chr2	21229828	21229828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagggacatgaaggactggCagctctaatgatggcaggat	14	7	1	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:21229828C>T	ENST00000233242.1	-	26	10039	c.9912G>A	c.(9910-9912)ctG>ctA	p.L3304L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3304					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)					GAAGGACTGGCAGCTCTAATG	0.433																																						ENST00000233242.1																			0				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						c.(9910-9912)ctG>ctA		apolipoprotein B	Atorvastatin(DB01076)						89	89	89					2																	21229828		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229828C>T	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.9912G>A	2.37:g.21229828C>T							p.L3304L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10039	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3304					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.9912G>A	CCDS1703.1																																																																																				0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	62	0	0	0	1	0	20	62					T	21229828	C	T	21229828	2	4	490	1	0	0	0	0	0	0	0	1	785	697	25	2		2	APOB	2	21229828	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		21229828	221969545	3	39653											
TTN	7273	broad.mit.edu	37	chr2	179575583	179575583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtggcactcaaagtcaGcactttctcccaccacagca	7	15	3	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:179575583G>A	ENST00000591111.1	-	96	27514	c.27290C>T	c.(27289-27291)gCt>gTt	p.A9097V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A9414V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V			Q8WZ42	TITIN_HUMAN	titin	13229	Ig-like 74.				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)			CTCAAAGTCAGCACTTTCTCC	0.502																																						ENST00000589042.1																			0				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						c.(28240-28242)gCt>gTt		titin							101	98	99					2																	179575583		2014	4178	6192	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575583G>A	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.27290C>T	2.37:g.179575583G>A	ENSP00000465570:p.Ala9097Val					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9097V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V|TTN_ENST00000342175.6_Intron	p.A9414V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		98	28465	-			9097			Ig-like 77.		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	ENST00000591111.1	37	c.28241C>T		.	.	.	.	.	.	.	.	.	.	G	15.56	2.870638	0.51588	.	.	ENSG00000155657	ENST00000342992	T	0.38077	1.16	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24890	0.0604	N	0.11364	0.135	0.80722	D	1	B	0.20550	0.046	B	0.26310	0.068	T	0.07443	-1.0772	9	0.87932	D	0	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	9097	Q8WZ42	TITIN_HUMAN	V	8170	ENSP00000343764:A8170V	ENSP00000343764:A8170V	A	-	2	0	TTN	179283828	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	2.765000	0.47621	2.941000	0.99782	0.655000	0.94253	GCT		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	92	0	0	0	1	0	18	92					A	179575583	G	A	179575583	3	1	490	1	0	0	0	0	1	0	0	0	16732	971	34	2	76348	2	TTN	2	179575583	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	158345755	179575583	63623790	4	39654											
MYO1B	4430	broad.mit.edu	37	chr2	192214945	192214945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccactaggaggagtaataAgtaactgtgagtatttttct	9	5	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:192214945A>C	ENST00000392318.3	+	7	803	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	186	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)			AGGAGTAATAAGTAACTGTGA	0.313																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(556-558)Agt>Cgt		myosin IB							88	92	91					2																	192214945		2203	4299	6502	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192214945A>C	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.556A>C	2.37:g.192214945A>C	ENSP00000376132:p.Ser186Arg					MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		7	803	+			186			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.556A>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746923	0.89663	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.54	5.54	0.83059	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.87873	0.6287	N	0.17800	0.525	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.70487	0.969;0.931	D	0.87339	0.2330	10	0.33141	T	0.24	.	15.6381	0.76970	1.0:0.0:0.0:0.0	.	186;186	O43795;O43795-2	MYO1B_HUMAN;.	R	186	ENSP00000341903:S186R;ENSP00000376132:S186R;ENSP00000306382:S186R;ENSP00000388140:S186R;ENSP00000376130:S186R	ENSP00000306382:S186R	S	+	1	0	MYO1B	191923190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.826000	0.75298	2.232000	0.73038	0.533000	0.62120	AGT		0.313	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		18	42	0	0	0	1	0	18	42					C	192214945	A	C	192214945	3	2	490	1	0	0	0	0	1	0	0	0	10069	72	3	5	578	5	MYO1B	2	192214945	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	12639362	192214945	50984428	5	39655											
ICOS	29851	broad.mit.edu	37	chr2	204821450	204821450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttgttgtagtctgcAttttgggatgcatacttatt	9	7	1	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:204821450A>G	ENST00000316386.6	+	3	530	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	155					immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						TGTAGTCTGCATTTTGGGATG	0.373																																						ENST00000316386.6																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(463-465)Att>Gtt		inducible T-cell co-stimulator							173	146	155					2																	204821450		2203	4300	6503	SO:0001583	missense	29851				immune response|T cell costimulation	extracellular region		g.chr2:204821450A>G	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"CD molecules"	5351	protein-coding gene	gene with protein product	"activation-inducible lymphocyte immunomediatory molecule"	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.463A>G	2.37:g.204821450A>G	ENSP00000319476:p.Ile155Val					ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN			3	530	+			155					Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	c.463A>G	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	A	0.487	-0.876972	0.02550	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	.	.	.	4.61	-8.23	0.01033	.	1.382140	0.04658	N	0.408286	T	0.16727	0.0402	L	0.35723	1.085	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.34254	-0.9836	9	0.06099	T	0.92	-8.527	0.4947	0.00570	0.2184:0.2479:0.2808:0.2529	.	155;155;155	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	V	155	.	ENSP00000319476:I155V	I	+	1	0	ICOS	204529695	0.016000	0.18221	0.000000	0.03702	0.006000	0.05464	0.154000	0.16343	-1.089000	0.03073	-0.408000	0.06270	ATT		0.373	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		15	206	0	0	0	1	0	15	206					G	204821450	A	G	204821450	3	3	490	1	0	0	0	0	1	0	0	0	7486	217	8	3	473	3	ICOS	2	204821450	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	12606505	204821450	38377923	6	39656											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	72	0	0	0	1	0	38	72					T	209113112	C	T	209113112	3	4	490	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	4291662	209113112	34086261	7	39657											
PTH1R	5745	broad.mit.edu	37	chr3	46940298	46940298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccgaggaggagctgcGcgccatcgcccaggcgcccc	13	19	1	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:46940298G>A	ENST00000313049.5	+	7	988	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PTH1R_ENST00000449590.1_Missense_Mutation_p.R262H|PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	262					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|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)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GAGGAGCTGCGCGCCATCGCC	0.716																																						ENST00000449590.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						c.(784-786)cGc>cAc		parathyroid hormone 1 receptor							17	15	16					3																	46940298		2201	4295	6496	SO:0001583	missense	5745					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	g.chr3:46940298G>A		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.785G>A	3.37:g.46940298G>A	ENSP00000321999:p.Arg262His					PTH1R_ENST00000313049.5_Missense_Mutation_p.R262H|PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H	p.R262H	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN			9	988	+			262					Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	c.785G>A	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758210	0.49468	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.71	2.75	0.32379	GPCR, family 2-like (1);	.	.	.	.	T	0.25382	0.0617	N	0.11201	0.11	0.27300	N	0.957602	B	0.02656	0.0	B	0.10450	0.005	T	0.15321	-1.0441	9	0.33940	T	0.23	.	5.0834	0.14668	0.5968:0.0:0.4032:0.0	.	262	Q03431	PTH1R_HUMAN	H	262;262;262;262;262;460	ENSP00000402723:R262H;ENSP00000411424:R262H;ENSP00000400977:R262H;ENSP00000413774:R262H;ENSP00000321999:R262H	ENSP00000321999:R262H	R	+	2	0	PTH1R	46915302	0.230000	0.23740	0.941000	0.38009	0.946000	0.59487	1.159000	0.31749	0.832000	0.34804	0.561000	0.74099	CGC		0.716	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316		3	15	0	0	0	1	0	3	15					A	46940298	G	A	46940298	3	1	490	1	0	0	0	0	1	0	0	0	12758	1087	38	1	811	1	PTH1R	3	46940298	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		46940298	151082132	8	39658											
WDR52	55779	broad.mit.edu	37	chr3	113082076	113082076	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaaagctttgatttgCtctctcttccgtgcctttat	5	13	3	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:113082076C>T	ENST00000295868.2	-	21	3012	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E	WDR52_ENST00000393845.2_Silent_p.E950E	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTGATTTGCTCTCTCTTCC	0.318																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2848-2850)gaG>gaA		WD repeat domain 52							105	110	108					3																	113082076		2203	4300	6503	SO:0001819	synonymous_variant	55779							g.chr3:113082076C>T																												ENST00000295868.2:c.2850G>A	3.37:g.113082076C>T						WDR52_ENST00000295868.2_Silent_p.E950E	p.E950E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			21	2916	-			950						Silent	SNP	ENST00000295868.2	37	c.2850G>A	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138967	0.01742	.	.	ENSG00000206530	ENST00000465636	.	.	.	6.16	-0.906	0.10524	.	.	.	.	.	T	0.58075	0.2097	.	.	.	0.51233	D	0.999918	.	.	.	.	.	.	T	0.55055	-0.8200	4	.	.	.	-12.1594	11.4396	0.50090	0.0:0.4259:0.0:0.5741	.	.	.	.	T	87	.	.	A	-	1	0	WDR52	114564766	0.330000	0.24705	0.104000	0.21259	0.209000	0.24338	0.125000	0.15749	-0.049000	0.13379	-0.157000	0.13467	GCA		0.318	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			27	154	0	0	0	1	0	27	154					T	113082076	C	T	113082076	2	4	490	1	0	0	0	0	0	0	0	1	17301	796	28	2		2	WDR52	3	113082076	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	66141778	113082076	84940354	9	39659											
EEFSEC	60678	broad.mit.edu	37	chr3	128060266	128060266	+	Frame_Shift_Del	DEL	G	G	-													ggaaaagataccgtatttccGggggcccctgcaaaccaagg							TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:128060266delG	ENST00000254730.6	+	5	1031	c.977delG	c.(976-978)cggfs	p.R326fs	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	326					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.R326L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGTATTTCCGGGGGCCCCTG	0.557																																						ENST00000254730.6																			1	Substitution - Missense(1)	p.R326L(1)	lung(1)	NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						c.(976-978)cgfs		eukaryotic elongation factor, selenocysteine-tRNA-specific							66	65	65					3																	128060266		2203	4300	6503	SO:0001589	frameshift_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060266delG		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.977delG	3.37:g.128060266delG	ENSP00000254730:p.Arg326fs					EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs|EEFSEC_ENST00000483569.1_3'UTR	p.R326fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN			5	1031	+			326					Q96HZ6	Frame_Shift_Del	DEL	ENST00000254730.6	37	c.977delG	CCDS33849.1																																																																																				0.557	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		24	56						24	56	---	---	---	---	-	128060266	G	-	128060266	7	5	490	1	0	1	0	1	0	0	0	0	4931	1116	39	0	995	0	EEFSEC	3	128060266	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RR-01A-21D-A34A-08	14978190	128060266	69962164	10	39660											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69334631	69334631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttataaatctccattaagggAagaatttgtcaagtctcagg	8	6	3	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:69334631A>G	ENST00000305363.4	+	4	357	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	98	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATTAAGGGAAGAATTTGTC	0.294																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(292-294)gAa>gGa		transmembrane protease, serine 11E							101	116	111					4																	69334631		2202	4291	6493	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69334631A>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.293A>G	4.37:g.69334631A>G	ENSP00000307519:p.Glu98Gly						p.E98G	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			4	357	+			98			SEA.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.293A>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	A	0.620	-0.821585	0.02755	.	.	ENSG00000087128	ENST00000305363	T	0.37915	1.17	6.02	-6.21	0.02065	SEA (2);	1.390520	0.04741	N	0.422809	T	0.18173	0.0436	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	10	0.15499	T	0.54	.	18.339	0.90298	0.1731:4.0E-4:0.8264:0.0	.	98	Q9UL52	TM11E_HUMAN	G	98	ENSP00000307519:E98G	ENSP00000307519:E98G	E	+	2	0	TMPRSS11E	69017226	0.007000	0.16637	0.000000	0.03702	0.051000	0.14879	-0.602000	0.05680	-1.348000	0.02205	-1.080000	0.02220	GAA		0.294	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		69	138	0	0	0	1	0	69	138					G	69334631	A	G	69334631	3	3	490	1	0	0	0	0	1	0	0	0	16239	246	9	3	307	3	TMPRSS11E	4	69334631	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08		69334631	121819645	11	39661											
FSTL5	56884	broad.mit.edu	37	chr4	162680611	162680611	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcttgtcagcattaaAatcatcatatttcaatagaa	6	7	4	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:162680611A>G	ENST00000306100.5	-	6	1115	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	227	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					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)		TCAGCATTAAAATCATCATAT	0.338																																						ENST00000306100.5																			0				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						c.(679-681)Ttt>Ctt		follistatin-like 5							93	101	98					4																	162680611		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680611A>G	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.679T>C	4.37:g.162680611A>G	ENSP00000305334:p.Phe227Leu					FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L	p.F227L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1115	-	all_hematologic(180;0.24)		227			EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.679T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918553	0.17982	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.37	2.87	0.33458	EF-hand-like domain (1);	0.632453	0.17063	N	0.188472	T	0.06096	0.0158	N	0.01134	-0.995	0.28860	N	0.895574	B;B;B	0.14438	0.01;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.0	T	0.35450	-0.9788	10	0.17832	T	0.49	.	7.3251	0.26551	0.7789:0.1451:0.076:0.0	.	226;226;227	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	227;226;226;226	ENSP00000305334:F227L;ENSP00000368462:F226L;ENSP00000389270:F226L;ENSP00000440409:F226L	ENSP00000305334:F227L	F	-	1	0	FSTL5	162900061	1.000000	0.71417	0.837000	0.33122	0.305000	0.27757	3.225000	0.51246	0.327000	0.23409	0.472000	0.43445	TTT		0.338	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		12	66	0	0	0	1	0	12	66					G	162680611	A	G	162680611	3	3	490	1	0	0	0	0	1	0	0	0	6080	14	1	3	1908	3	FSTL5	4	162680611	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	93345980	162680611	28473665	12	39662											
C5orf13	9315	broad.mit.edu	37	chr5	111091466	111091483	+	Start_Codon_Del	DEL	CCATTTTGAGAATCTTAG	CCATTTTGAGAATCTTAG	-													cctctgatgaccaagtcttaCcattttgagaatcttagtct							TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:111091466_111091483delCCATTTTGAGAATCTTAG	ENST00000379671.3	-	0	251_268				NREP_ENST00000455559.2_Start_Codon_Del|NREP_ENST00000453526.2_Start_Codon_Del|NREP_ENST00000507742.1_Intron|NREP_ENST00000446294.2_Start_Codon_Del|NREP_ENST00000395634.3_Intron|NREP_ENST00000509979.1_Start_Codon_Del|NREP_ENST00000509427.1_Start_Codon_Del|NREP_ENST00000419114.2_Start_Codon_Del|NREP_ENST00000257435.7_Start_Codon_Del|NREP_ENST00000450761.2_Start_Codon_Del|NREP_ENST00000509025.1_Start_Codon_Del|NREP_ENST00000508870.1_Start_Codon_Del|NREP_ENST00000447165.2_Start_Codon_Del|NREP_ENST00000515855.1_Start_Codon_Del	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein						axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCAAGTCTTACCATTTTGAGAATCTTAGTCTTGGGCTT	0.431																																						ENST00000379671.3																			0													neuronal regeneration related protein																																				SO:0001582	initiator_codon_variant	9315					cytoplasm		g.chr5:111091466_111091483delCCATTTTGAGAATCTTAG	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"neuronal protein 3.1"	607332	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795		5.37:g.111091466_111091483delCCATTTTGAGAATCTTAG						NREP_ENST00000509427.1_Start_Codon_Del|NREP_ENST00000450761.2_Start_Codon_Del|NREP_ENST00000455559.2_Start_Codon_Del|NREP_ENST00000507742.1_Intron|NREP_ENST00000419114.2_Start_Codon_Del|NREP_ENST00000446294.2_Start_Codon_Del|NREP_ENST00000395634.3_Intron|NREP_ENST00000508870.1_Start_Codon_Del|NREP_ENST00000515855.1_Start_Codon_Del|NREP_ENST00000509979.1_Start_Codon_Del|NREP_ENST00000509025.1_Start_Codon_Del|NREP_ENST00000453526.2_Start_Codon_Del|NREP_ENST00000447165.2_Start_Codon_Del|NREP_ENST00000257435.7_Start_Codon_Del		NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN			0	251_268	-								B2RDN8|B7Z5D2|D3DSZ8	Translation_Start_Site	DEL	ENST00000379671.3	37		CCDS4105.1																																																																																				0.431	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		42	143						42	143	---	---	---	---	-	111091483	CCATTTTGAGAATCTTAG	-	111091466	7	5	490	1	0	1	0	1	0	0	0	0	2282	521	18	0	214	0	C5orf13	5	111091466	Start_Codon_Del	DEL	CCATTTTGAGAATCTTAG	TCGA-TQ-A7RR-01A-21D-A34A-08		111091466	69823794	13	39663											
AQPEP	206338	broad.mit.edu	37	chr5	115327923	115327923	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaaagatcaactgacAgaaaaaaagactctgatctc	6	9	3	5			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:115327923A>G	ENST00000357872.4	+	5	1333	c.1209A>G	c.(1207-1209)acA>acG	p.T403T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		403						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										ATCAACTGACAGAAAAAAAGA	0.383																																						ENST00000357872.4																			0											c.(1207-1209)acA>acG									143	152	149					5																	115327923		2202	4300	6502	SO:0001819	synonymous_variant	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115327923A>G																												ENST00000357872.4:c.1209A>G	5.37:g.115327923A>G						AQPEP_ENST00000395528.2_5'UTR	p.T403T	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			5	1333	+			403					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.1209A>G	CCDS4124.1																																																																																				0.383	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			8	191	0	0	0	1	0	8	191					G	115327923	A	G	115327923	2	3	490	1	0	0	0	0	0	0	0	1	834	175	7	3		3	AQPEP	5	115327923	Silent	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	4236457	115327923	65587337	14	39664											
ZNF454	285676	broad.mit.edu	37	chr5	178373365	178373365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttgctgttgcaggaatcGgtgaccttcaaggatgtggc	13	7	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:178373365G>A	ENST00000320129.3	+	3	342	c.39G>A	c.(37-39)tcG>tcA	p.S13S	ZNF454_ENST00000519564.1_Silent_p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	13					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.S13S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		TGCAGGAATCGGTGACCTTCA	0.567																																						ENST00000320129.3																			1	Substitution - coding silent(1)	p.S13S(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(37-39)tcG>tcA		zinc finger protein 454							129	119	123					5																	178373365		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178373365G>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.39G>A	5.37:g.178373365G>A						ZNF454_ENST00000519564.1_Silent_p.S13S	p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	3	342	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	13					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.39G>A	CCDS4441.1																																																																																				0.567	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		27	73	0	0	0	1	0	27	73					A	178373365	G	A	178373365	2	1	490	1	0	0	0	0	0	0	0	1	17920	1103	39	1		1	ZNF454	5	178373365	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	63045442	178373365	2541895	15	39665											
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcacagttaggtccaGcataattttcgttacaaatg	6	9	1	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				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						c.(484-486)gCt>gTt		laminin, alpha 4							282	295	291					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		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.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	480	0	0	0	1	0	6	480					A	112522827	G	A	112522827	3	1	490	1	0	0	0	0	1	0	0	0	8608	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		112522827	58592240	16	39666											
C7orf26	79034	broad.mit.edu	37	chr7	6631413	6631413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaagccgatgacagccGgatgagcttgttgggaaaac	13	8	0	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:6631413G>A	ENST00000344417.5	+	2	596	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	110										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATGACAGCCGGATGAGCTTG	0.507																																						ENST00000344417.5																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(328-330)cGg>cAg		chromosome 7 open reading frame 26							148	142	144					7																	6631413		2203	4300	6503	SO:0001583	missense	79034							g.chr7:6631413G>A	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.329G>A	7.37:g.6631413G>A	ENSP00000340220:p.Arg110Gln					C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	p.R110Q	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	2	596	+		Ovarian(82;0.232)	110					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.329G>A	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	g	35	5.488404	0.96323	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.59638	0.25;0.25	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.79359	-0.1836	10	0.72032	D	0.01	-28.4749	16.766	0.85524	0.0:0.0:1.0:0.0	.	91;110	Q96N11-2;Q96N11	.;CG026_HUMAN	Q	110;91	ENSP00000340220:R110Q;ENSP00000351974:R91Q	ENSP00000340220:R110Q	R	+	2	0	C7orf26	6597938	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.793000	0.99091	2.627000	0.88993	0.632000	0.83419	CGG		0.507	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		4	137	0	0	0	1	0	4	137					A	6631413	G	A	6631413	3	1	490	1	0	0	0	0	1	0	0	0	2381	1116	39	1	335	1	C7orf26	7	6631413	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		6631413	152507250	17	39667											
MUC17	140453	broad.mit.edu	37	chr7	100680279	100680279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcatagcaacctcaaCgcctagtgaaggaagcactg	9	12	1	1	rs147735350		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:100680279C>T	ENST00000306151.4	+	3	5646	c.5582C>T	c.(5581-5583)aCg>aTg	p.T1861M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1861	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)					GCAACCTCAACGCCTAGTGAA	0.488																																						ENST00000306151.4																			0				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						c.(5581-5583)aCg>aTg		mucin 17, cell surface associated		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	222	232	228		5582	0.8	0	7	dbSNP_134	228	0,8600		0,0,4300	no	missense	MUC17	NM_001040105.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1861/4494	100680279	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680279C>T	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.5582C>T	7.37:g.100680279C>T	ENSP00000302716:p.Thr1861Met						p.T1861M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5646	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1861			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5582C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.748	-0.260626	0.05791	2.27E-4	0.0	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.824	0.824	0.18818	.	.	.	.	.	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	P	0.49953	0.627	T	0.50030	-0.8875	9	0.49607	T	0.09	.	5.0939	0.14723	0.0:1.0:0.0:0.0	.	1861	Q685J3	MUC17_HUMAN	M	1861	ENSP00000302716:T1861M	ENSP00000302716:T1861M	T	+	2	0	MUC17	100466999	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.926000	0.28804	0.788000	0.33755	0.134000	0.15878	ACG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	425	0	0	0	1	0	6	425					T	100680279	C	T	100680279	3	4	490	1	0	0	0	0	1	0	0	0	9974	536	19	1	5592	1	MUC17	7	100680279	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	94048866	100680279	58458384	18	39668											
PMPCB	9512	broad.mit.edu	37	chr7	102949430	102949430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgacaagatgcctttggCgcaccttgcaatagctgttg	12	9	0	2	rs142471700	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:102949430C>T	ENST00000249269.4	+	8	919	c.881C>T	c.(880-882)gCg>gTg	p.A294V	PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V|PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCCTTTGGCGCACCTTGCA	0.423																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(880-882)gCg>gTg		peptidase (mitochondrial processing) beta		C	VAL/ALA	0,4406		0,0,2203	157	133	141		881	5.3	1	7	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PMPCB	NM_004279.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	294/490	102949430	2,13004	2203	4300	6503	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102949430C>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.881C>T	7.37:g.102949430C>T	ENSP00000249269:p.Ala294Val					PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V|PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V	p.A294V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			8	919	+			294					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.881C>T	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264231	0.95399	0.0	2.33E-4	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.10288	2.89;2.89;2.89	5.35	5.35	0.76521	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.975;0.993;0.999;0.997;0.997;0.997;0.999	P;B;P;P;P;P;P	0.57101	0.544;0.386;0.813;0.694;0.694;0.694;0.692	T	0.00177	-1.1952	10	0.44086	T	0.13	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	189;189;294;294;285;294;294	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	V	294;294;189	ENSP00000249269:A294V;ENSP00000390035:A294V;ENSP00000410393:A189V	ENSP00000249269:A294V	A	+	2	0	PMPCB	102736666	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.769000	0.85360	2.656000	0.90262	0.650000	0.86243	GCG		0.423	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		4	126	0	0	0	1	0	4	126					T	102949430	C	T	102949430	3	4	490	1	0	0	0	0	1	0	0	0	12141	768	27	1	911	1	PMPCB	7	102949430	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	2269151	102949430	56189233	19	39669											
KCNB2	9312	broad.mit.edu	37	chr8	73848238	73848238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctctcaatacgctgccGgagctgcaggaaacggacga	12	11	2	0	rs535772866		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					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)	p.P216P(1)		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)	ATACGCTGCCGGAGCTGCAGG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19615	0.0		0.0	False		,,,				2504	0.0					ENST00000523207.1																			1	Substitution - coding silent(1)	p.P216P(1)	lung(1)	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						c.(646-648)ccG>ccA		potassium voltage-gated channel, Shab-related subfamily, member 2							197	184	188					8																	73848238		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848238G>A	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.648G>A	8.37:g.73848238G>A							p.P216P	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1236	+	Breast(64;0.137)		216					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.648G>A	CCDS6209.1																																																																																				0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	171	0	0	0	1	0	5	171					A	73848238	G	A	73848238	2	1	490	1	0	0	0	0	0	0	0	1	8013	1103	39	1		1	KCNB2	8	73848238	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		73848238	72515784	20	39670											
MTERFD1	51001	broad.mit.edu	37	chr8	97270778	97270778	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcaattgtcagaggaTatctgaggctgagcagaaaa	12	5	2	5			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:97270778T>G	ENST00000287025.3	-	2	239	c.141A>C	c.(139-141)atA>atC	p.I47I	MTERFD1_ENST00000523821.1_Silent_p.I47I|MTERFD1_ENST00000522822.1_5'Flank|MTERFD1_ENST00000524341.1_5'Flank	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		47					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTCAGAGGATATCTGAGGCT	0.428																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(139-141)atA>atC		MTERF domain containing 1							150	147	148					8																	97270778		2203	4300	6503	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97270778T>G																												ENST00000287025.3:c.141A>C	8.37:g.97270778T>G						MTERFD1_ENST00000287025.3_Silent_p.I47I	p.I47I			Q96E29	MTER1_HUMAN			2	260	-	Breast(36;5.16e-05)		47					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.141A>C	CCDS6270.1																																																																																				0.428	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			4	189	0	0	0	1	0	4	189					G	97270778	T	G	97270778	2	3	490	1	0	0	0	0	0	0	0	1	9919	1396	49	5		5	MTERFD1	8	97270778	Silent	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	23422540	97270778	49093244	21	39671											
FIBCD1	84929	broad.mit.edu	37	chr9	133779457	133779469	+	Frame_Shift_Del	DEL	GTCCTCCCGGACC	GTCCTCCCGGACC	-													caaggtgcaccagtctagcgGtcctcccggaccggccggat					rs377424705		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr9:133779457_133779469delGTCCTCCCGGACC	ENST00000372338.4	-	7	1610_1622	c.1368_1380delGGTCCGGGAGGAC	c.(1366-1380)ccggtccgggaggacfs	p.PVRED456fs	FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs|FIBCD1_ENST00000253018.4_Splice_Site_p.GS158fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	456	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGTCTAGCGGTCCTCCCGGACCGGCCGGATCT	0.643																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(1366-1380)ccfs		fibrinogen C domain containing 1																																				SO:0001589	frameshift_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133779457_133779469delGTCCTCCCGGACC	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"Fibrinogen C domain containing"	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1368_1380delGGTCCGGGAGGAC	9.37:g.133779457_133779469delGTCCTCCCGGACC	ENSP00000361413:p.Pro456fs					FIBCD1_ENST00000253018.4_Splice_Site_p.A158_splice|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs	p.PVRED456fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	7	1610_1622	-	all_hematologic(7;0.0028)		456			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Frame_Shift_Del	DEL	ENST00000372338.4	37	c.1368_1380delGGTCCGGGAGGAC	CCDS6937.1																																																																																				0.643	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		11	23						11	23	---	---	---	---	-	133779469	GTCCTCCCGGACC	-	133779457	7	5	490	1	0	1	0	1	0	0	0	0	5884	1252	44	0	9	0	FIBCD1	9	133779457	Frame_Shift_Del	DEL	GTCCTCCCGGACC	TCGA-TQ-A7RR-01A-21D-A34A-08		133779457	7433974	22	39672											
RRP12	23223	broad.mit.edu	37	chr10	99160934	99160934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgctgtggcctttctTccagcgcttcaacttagctg	10	13	2	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:99160934T>C	ENST00000370992.4	-	1	166	c.55A>G	c.(55-57)Aag>Gag	p.K19E	RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	19						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCCTTTCTTCCAGCGCTTC	0.607																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(55-57)Aag>Gag		ribosomal RNA processing 12 homolog (S. cerevisiae)							55	51	52					10																	99160934		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99160934T>C		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.55A>G	10.37:g.99160934T>C	ENSP00000360031:p.Lys19Glu					RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E|RP11-452K12.7_ENST00000422848.1_RNA	p.K19E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	1	166	-		Colorectal(252;0.162)	19					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.55A>G	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577848	0.65878	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.31510	1.54;1.5;1.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.45617	0.1351	M	0.72118	2.19	0.80722	D	1	D;D;P	0.61697	0.982;0.99;0.704	P;P;B	0.55087	0.591;0.768;0.231	T	0.41052	-0.9530	10	0.40728	T	0.16	-28.4164	11.3499	0.49581	0.0:0.0:0.1518:0.8482	.	19;19;19	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	E	19	ENSP00000360031:K19E;ENSP00000324315:K19E;ENSP00000414863:K19E	ENSP00000324315:K19E	K	-	1	0	RRP12	99150924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.715000	0.68430	2.145000	0.66743	0.455000	0.32223	AAG		0.607	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		27	56	0	0	0	1	0	27	56					C	99160934	T	C	99160934	3	2	490	1	0	0	0	0	1	0	0	0	13686	1792	62	3	3974	3	RRP12	10	99160934	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08		99160934	36373813	23	39673											
TRIM5	85363	broad.mit.edu	37	chr11	5701232	5701232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggctggtaactgatcCggcacacagggcagctactc	11	13	1	1	rs200209793		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:5701232C>T	ENST00000380034.3	-	2	432	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000305836.5_Missense_Mutation_p.R59Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000483835.1_5'Flank	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					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)		GTAACTGATCCGGCACACAGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20847	0.001		0.0	False		,,,				2504	0.0					ENST00000305836.5																			0				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						c.(175-177)cGg>cAg		tripartite motif containing 5							148	129	135					11																	5701232		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701232C>T	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.176G>A	11.37:g.5701232C>T	ENSP00000369373:p.Arg59Gln					TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380034.3_Missense_Mutation_p.R59Q	p.R59Q			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	478	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	59					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	ENST00000380034.3	37	c.176G>A	CCDS31393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.37	1.617994	0.28801	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903;ENST00000419850	D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.07	2.21	0.28008	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.139418	0.33346	N	0.005016	D	0.88168	0.6364	M	0.72624	2.21	0.26830	N	0.96861	P;P;D	0.76494	0.729;0.923;0.999	B;B;D	0.63793	0.23;0.411;0.918	T	0.78600	-0.2141	10	0.25751	T	0.34	.	8.312	0.32077	0.0:0.8003:0.0:0.1997	.	59;59;59	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	Q	59	ENSP00000380064:R59Q;ENSP00000307031:R59Q;ENSP00000369373:R59Q;ENSP00000369366:R59Q;ENSP00000380058:R59Q;ENSP00000380062:R59Q;ENSP00000388031:R59Q;ENSP00000388150:R59Q	ENSP00000307031:R59Q	R	-	2	0	TRIM5	5657808	0.001000	0.12720	0.073000	0.20177	0.034000	0.12701	1.668000	0.37481	0.684000	0.31448	-0.142000	0.14014	CGG		0.547	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		4	86	0	0	0	1	0	4	86					T	5701232	C	T	5701232	3	4	490	1	0	0	0	0	1	0	0	0	16522	652	23	1	1572	1	TRIM5	11	5701232	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		5701232	129305284	24	39674											
CTR9	9646	broad.mit.edu	37	chr11	10787958	10787958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttttcaggctatttgcGcctaggagccatggctagag	12	8	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:10787958G>A	ENST00000361367.2	+	13	2033	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	536					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|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)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1606-1608)cGc>cAc		CTR9, Paf1/RNA polymerase II complex component							83	89	87					11																	10787958		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10787958G>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1607G>A	11.37:g.10787958G>A	ENSP00000355013:p.Arg536His						p.R536H	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	13	2033	+			536					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1607G>A	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289457	0.95517	.	.	ENSG00000198730	ENST00000361367	T	0.20738	2.05	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62586	-0.6823	10	0.66056	D	0.02	-11.0167	19.4253	0.94739	0.0:0.0:1.0:0.0	.	536	Q6PD62	CTR9_HUMAN	H	536	ENSP00000355013:R536H	ENSP00000355013:R536H	R	+	2	0	CTR9	10744534	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.839000	0.99476	2.688000	0.91661	0.650000	0.86243	CGC		0.308	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		19	64	0	0	0	1	0	19	64					A	10787958	G	A	10787958	3	1	490	1	0	0	0	0	1	0	0	0	4024	1087	38	1	1657	1	CTR9	11	10787958	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	5086726	10787958	124218558	25	39675											
SPDYC	387778	broad.mit.edu	37	chr11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtctacttccagcgcGcccacctgaagctcagcgag	11	15	2	1	rs370497227		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602																																						ENST00000377185.2																			2	Substitution - Missense(2)	p.A99T(2)	lung(1)|endometrium(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(295-297)Gcc>Acc		speedy/RINGO cell cycle regulator family member C							85	80	82					11																	64939753		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939753G>A	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.295G>A	11.37:g.64939753G>A	ENSP00000366390:p.Ala99Thr						p.A99T	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			4	377	+			99			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.295G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033057	0.75504	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.75	2.89	0.33648	.	0.000000	0.44285	U	0.000463	T	0.48502	0.1503	M	0.74647	2.275	0.31283	N	0.690395	D	0.56521	0.976	P	0.45071	0.468	T	0.59600	-0.7424	9	0.62326	D	0.03	.	8.7449	0.34580	0.1807:0.0:0.8193:0.0	.	99	Q5MJ68	SPDYC_HUMAN	T	99	.	ENSP00000366390:A99T	A	+	1	0	SPDYC	64696329	1.000000	0.71417	0.004000	0.12327	0.821000	0.46438	7.724000	0.84798	0.626000	0.30322	0.655000	0.94253	GCC		0.602	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		12	113	0	0	0	1	0	12	113					A	64939753	G	A	64939753	3	1	490	1	0	0	0	0	1	0	0	0	15027	1087	38	1	309	1	SPDYC	11	64939753	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	54151795	64939753	70066763	26	39676											
GMPR2	51292	broad.mit.edu	37	chr14	24707597	24707597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaagtatgctgggggCgtggctgagtacaggtatgt	17	4	0	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr14:24707597C>T	ENST00000355299.4	+	9	1304	c.843C>T	c.(841-843)ggC>ggT	p.G281G	GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000557854.1_Silent_p.G299G|GMPR2_ENST00000456667.3_Silent_p.G253G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000420554.2_Silent_p.G299G	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	281					GMP metabolic process (GO:0046037)|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)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ATGCTGGGGGCGTGGCTGAGT	0.507																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(895-897)ggC>ggT		guanosine monophosphate reductase 2							101	109	106					14																	24707597		2067	4205	6272	SO:0001819	synonymous_variant	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707597C>T		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.843C>T	14.37:g.24707597C>T						GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000420554.2_Silent_p.G299G|GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000456667.3_Silent_p.G253G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000355299.4_Silent_p.G281G	p.G299G			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	8	1174	+			281					D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	c.897C>T	CCDS41935.1																																																																																				0.507	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		11	85	0	0	0	1	0	11	85					T	24707597	C	T	24707597	2	4	490	1	0	0	0	0	0	0	0	1	6497	755	27	1		1	GMPR2	14	24707597	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		24707597	82641943	27	39677											
SPINT1	6692	broad.mit.edu	37	chr15	41145414	41145414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggaaaacacagattggCgcctactgcggggtgacacg	14	9	0	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr15:41145414C>T	ENST00000344051.4	+	3	802	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190					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)		CACAGATTGGCGCCTACTGCG	0.617																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(568-570)Cgc>Tgc		serine peptidase inhibitor, Kunitz type 1							131	125	127					15																	41145414		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145414C>T		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.568C>T	15.37:g.41145414C>T	ENSP00000342098:p.Arg190Cys					SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C	p.R190C			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	3	802	+		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)	190					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.568C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	8.158	0.788912	0.16258	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95518	-3.73;-3.73	4.81	2.94	0.34122	.	0.942915	0.09087	N	0.850471	D	0.90772	0.7103	L	0.27053	0.805	0.35711	D	0.816397	P;P;P	0.46327	0.876;0.71;0.66	B;B;B	0.42798	0.118;0.398;0.118	D	0.86884	0.2044	10	0.54805	T	0.06	-15.9852	4.2366	0.10628	0.1813:0.6285:0.0:0.1903	.	190;190;190	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	C	190;157;190	ENSP00000342098:R190C;ENSP00000409935:R190C	ENSP00000342098:R190C	R	+	1	0	SPINT1	38932706	0.446000	0.25665	0.636000	0.29352	0.039000	0.13416	0.543000	0.23237	0.633000	0.30452	0.561000	0.74099	CGC		0.617	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		5	84	0	0	0	1	0	5	84					T	41145414	C	T	41145414	3	4	490	1	0	0	0	0	1	0	0	0	15067	768	27	1	574	1	SPINT1	15	41145414	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		41145414	61385978	28	39678											
CES3	23491	broad.mit.edu	37	chr16	66997082	66997082	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttctgtccttccctcagGgcccgaagttgctcagcctg	9	16	3	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:66997082G>A	ENST00000303334.4	+	2	154	c.83G>A	c.(82-84)gGg>gAg	p.G28E	CES3_ENST00000394037.1_Splice_Site_p.G28E|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	28						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTTCCCTCAGGGCCCGAAGTT	0.587																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.e2-1		carboxylesterase 3							53	51	52					16																	66997082		2200	4300	6500	SO:0001630	splice_region_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66997082G>A	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.83-1G>A	16.37:g.66997082G>A						CES3_ENST00000394037.1_Splice_Site_p.G28_splice|RP11-361L15.4_ENST00000566869.1_RNA	p.G28_splice	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	2	154	+		Ovarian(137;0.0563)	28					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Splice_Site	SNP	ENST00000303334.4	37	c.82_splice	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310820	0.23821	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.65916	-0.18;-0.18	4.35	2.29	0.28610	Carboxylesterase, type B (1);	1.184890	0.06438	N	0.725471	T	0.62134	0.2403	M	0.72353	2.195	0.19575	N	0.999969	B	0.33477	0.413	B	0.36186	0.219	T	0.50816	-0.8783	9	.	.	.	.	6.5836	0.22609	0.2491:0.0:0.7509:0.0	.	28	Q6UWW8	EST3_HUMAN	E	28	ENSP00000304782:G28E;ENSP00000377602:G28E	.	G	+	2	0	CES3	65554583	0.700000	0.27796	0.106000	0.21319	0.171000	0.22731	0.810000	0.27183	0.474000	0.27392	0.655000	0.94253	GGG		0.587	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922	Missense_Mutation	10	48	0	0	0	1	0	10	48					A	66997082	G	A	66997082	5	1	490	1	0	0	0	0	0	0	1	0	3271	1246	43	2	89	2	CES3	16	66997082	Splice_Site	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		66997082	23357671	29	39679											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	8	0	0	0	1	0	4	8					A	7577121	G	A	7577121	3	1	490	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		7577121	73618089	30	39680											
TP53	7157	broad.mit.edu	37	chr17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggaactgttacacaTgtagttgtagtggatggtgg	14	5	0	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577572T>C	ENST00000269305.4	-	7	898	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000420246.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)	CTGTTACACATGTAGTTGTAG	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		36	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - compound substitution(1)	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)	haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|cervix(1)|stomach(1)|large_intestine(1)|lung(1)|pancreas(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						c.(709-711)Atg>Gtg	Other conserved DNA damage response genes	tumor protein p53							128	101	110					17																	7577572		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577572T>C	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.709A>G	17.37:g.7577572T>C	ENSP00000269305:p.Met237Val	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)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	841	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.709A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111049	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	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	0.99585	0.9850	M	0.64997	1.995	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;0.989;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.91635	0.997;0.749;0.999;0.999;0.997;0.997	D	0.97551	1.0092	10	0.87932	D	0	-32.6033	11.6823	0.51466	0.0:0.0:0.0:1.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237V;ENSP00000352610:M237V;ENSP00000269305:M237V;ENSP00000398846:M237V;ENSP00000391127:M237V;ENSP00000391478:M237V;ENSP00000425104:M105V;ENSP00000423862:M144V	ENSP00000269305:M237V	M	-	1	0	TP53	7518297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	46	0	0	0	1	0	22	46					C	7577572	T	C	7577572	3	2	490	1	0	0	0	0	1	0	0	0	16378	1464	51	3	581	3	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	451	7577572	73617638	31	39681											
SLFN11	91607	broad.mit.edu	37	chr17	33689956	33689956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtgaaggttatcgggcGttggggttggcaaaaatgaa	17	3	0	2	rs114962374	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:33689956G>A	ENST00000394566.1	-	4	1143	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	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	291					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)	p.R291C(1)		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)		GTTATCGGGCGTTGGGGTTGG	0.423													G|||	16	0.00319489	0.0121	0.0	5008	,	,		20181	0.0		0.0	False		,,,				2504	0.0					ENST00000394566.1																			1	Substitution - Missense(1)	p.R291C(1)	large_intestine(1)	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						c.(871-873)Cgc>Tgc		schlafen family member 11		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	34,4372	39.2+/-71.8	0,34,2169	198	198	198		871,871,871,871,871	-8.6	0	17	dbSNP_132	198	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	SLFN11	NM_001104587.1,NM_001104588.1,NM_001104589.1,NM_001104590.1,NM_152270.3	180,180,180,180,180	0,34,6469	AA,AG,GG		0.0,0.7717,0.2614	benign,benign,benign,benign,benign	291/902,291/902,291/902,291/902,291/902	33689956	34,12972	2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33689956G>A	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.871C>T	17.37:g.33689956G>A	ENSP00000378067:p.Arg291Cys					SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	p.R291C	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		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1143	-		Ovarian(249;0.17)	291					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.871C>T	CCDS11294.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	6.455	0.452023	0.12283	0.007717	0.0	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.59638	0.25;0.25	4.32	-8.65	0.00870	.	6.153270	0.00550	N	0.000256	T	0.12305	0.0299	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13899	-1.0492	10	0.45353	T	0.12	.	1.855	0.03177	0.1698:0.2828:0.3442:0.2032	.	291	Q7Z7L1	SLN11_HUMAN	C	291	ENSP00000312402:R291C;ENSP00000378067:R291C	ENSP00000312402:R291C	R	-	1	0	SLFN11	30714069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.766000	0.00372	-1.793000	0.01258	-0.966000	0.02617	CGC		0.423	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		11	240	0	0	0	1	0	11	240					A	33689956	G	A	33689956	3	1	490	1	0	0	0	0	1	0	0	0	14733	1145	40	1	1850	1	SLFN11	17	33689956	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	26112384	33689956	47505254	32	39682											
SYNRG	11276	broad.mit.edu	37	chr17	35896092	35896092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttactgtgagtgtggCgagtgacatgaagccgatta	15	6	0	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:35896092C>T	ENST00000339208.6	-	19	3795	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1219					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGAGTGTGGCGAGTGACATG	0.443																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3655-3657)Gcc>Acc		synergin, gamma							183	156	166					17																	35896092		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35896092C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3655G>A	17.37:g.35896092C>T	ENSP00000343610:p.Ala1219Thr					SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T	p.A1219T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			19	3795	-			1219					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.3655G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615682	0.46631	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.53857	1.41;0.6	5.64	4.66	0.58398	.	0.054916	0.64402	N	0.000001	T	0.48241	0.1489	M	0.61703	1.905	0.58432	D	0.999999	P;P;P;B;B;B	0.47962	0.559;0.684;0.903;0.046;0.375;0.375	B;B;B;B;B;B	0.36244	0.22;0.209;0.209;0.031;0.089;0.089	T	0.56402	-0.7985	10	0.52906	T	0.07	-5.9225	15.2714	0.73705	0.0:0.9316:0.0:0.0684	.	1013;1141;1141;1141;1219;1219	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	T	1219;1013;1219;1141;1141	ENSP00000005279:A1219T;ENSP00000377903:A1141T	ENSP00000343610:A1013T	A	-	1	0	SYNRG	32970205	1.000000	0.71417	0.944000	0.38274	0.456000	0.32438	4.860000	0.62961	1.495000	0.48549	0.650000	0.86243	GCC		0.443	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		12	68	0	0	0	1	0	12	68					T	35896092	C	T	35896092	3	4	490	1	0	0	0	0	1	0	0	0	15457	768	27	1	378	1	SYNRG	17	35896092	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	2206136	35896092	45299118	33	39683											
OTOP3	347741	broad.mit.edu	37	chr17	72943529	72943529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaactggaagcggagggcaCtcaaggagatctcactcttc	11	11	4	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:72943529C>A	ENST00000328801.4	+	6	1579	c.1579C>A	c.(1579-1581)Ctc>Atc	p.L527I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	527						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)					GCGGAGGGCACTCAAGGAGAT	0.617																																						ENST00000328801.4																			0				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						c.(1579-1581)Ctc>Atc		otopetrin 3							28	30	29					17																	72943529		2197	4288	6485	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943529C>A	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.1579C>A	17.37:g.72943529C>A	ENSP00000328090:p.Leu527Ile						p.L527I	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			6	1579	+	all_lung(278;0.151)|Lung NSC(278;0.185)		527						Missense_Mutation	SNP	ENST00000328801.4	37	c.1579C>A	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627848	0.46944	.	.	ENSG00000182938	ENST00000328801	T	0.21734	1.99	4.44	4.44	0.53790	.	0.100426	0.41823	D	0.000820	T	0.29652	0.0740	L	0.60845	1.875	0.34577	D	0.714037	D	0.54964	0.969	P	0.52309	0.695	T	0.44817	-0.9303	10	0.72032	D	0.01	-29.2004	8.6904	0.34262	0.0:0.7636:0.1525:0.0839	.	527	Q7RTS5	OTOP3_HUMAN	I	527	ENSP00000328090:L527I	ENSP00000328090:L527I	L	+	1	0	OTOP3	70455124	0.097000	0.21791	0.932000	0.37286	0.808000	0.45660	0.813000	0.27225	2.320000	0.78422	0.456000	0.33151	CTC		0.617	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		11	42	1	0	0.000151284	1	0.000156993	11	42					A	72943529	C	A	72943529	3	1	490	1	0	0	0	0	1	0	0	0	11307	565	20	4	1601	4	OTOP3	17	72943529	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	37047437	72943529	8251681	34	39684											
ZNF77	58492	broad.mit.edu	37	chr19	2933587	2933587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtctctctccagtgtgcGttctcacgtgcacacgaagg	11	13	3	0	rs201394063		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:2933587G>A	ENST00000314531.4	-	4	1630	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	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)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTTCTCACGTG	0.502																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1537-1539)aCg>aTg		zinc finger protein 77		G	MET/THR	0,4406		0,0,2203	212	171	185		1538	-2.6	0	19		185	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF77	NM_021217.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	513/546	2933587	1,13005	2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933587G>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1538C>T	19.37:g.2933587G>A	ENSP00000319053:p.Thr513Met						p.T513M	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1630	-			513					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1538C>T	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110262	0.20714	0.0	1.16E-4	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.13089	2.62	2.56	-2.59	0.06209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	M	0.72479	2.2	0.09310	N	1	B	0.28933	0.228	B	0.21151	0.033	T	0.20207	-1.0282	9	0.46703	T	0.11	.	7.6427	0.28303	0.7165:0.0:0.2835:0.0	.	513	Q15935	ZNF77_HUMAN	M	307;513	ENSP00000319053:T513M	ENSP00000319053:T513M	T	-	2	0	ZNF77	2884587	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-1.416000	0.02467	-0.356000	0.08187	-0.339000	0.08088	ACG		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		6	132	0	0	0	1	0	6	132					A	2933587	G	A	2933587	3	1	490	1	0	0	0	0	1	0	0	0	18139	1145	40	1	103	1	ZNF77	19	2933587	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		2933587	56195396	35	39685											
NWD1	284434	broad.mit.edu	37	chr19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccttggatgtgcatggccGtgctggcctcccaggccaca	12	14	0	0	rs574827018		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:16902242G>A	ENST00000552788.1	+	12	3022	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000524140.2_Missense_Mutation_p.V1008M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							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						GTGCATGGCCGTGCTGGCCTC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18845	0.0		0.0	False		,,,				2504	0.001					ENST00000524140.2																			0				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						c.(3022-3024)Gtg>Atg		NACHT and WD repeat domain containing 1							103	92	96					19																	16902242		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902242G>A	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.3022G>A	19.37:g.16902242G>A	ENSP00000447224:p.Val1008Met					NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M	p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3440	+			1008					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	9.459	1.092560	0.20471	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.44083	1.48;0.93;1.48;3.41;3.41;3.41	5.44	-0.905	0.10527	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.392410	0.04551	N	0.389874	T	0.22859	0.0552	L	0.27053	0.805	0.09310	N	1	B;P;B	0.43578	0.338;0.811;0.338	B;B;B	0.30029	0.015;0.11;0.023	T	0.15521	-1.0434	10	0.39692	T	0.17	-4.4714	4.2802	0.10829	0.1393:0.113:0.6327:0.115	.	1008;1008;873	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	873;1008;1008;1008;802;1008;873	ENSP00000428579:V1008M;ENSP00000447548:V1008M;ENSP00000369136:V1008M;ENSP00000428955:V802M;ENSP00000447224:V1008M;ENSP00000340159:V873M	ENSP00000340159:V873M	V	+	1	0	NWD1	16763242	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.312000	0.19397	-0.554000	0.06150	-2.048000	0.00412	GTG		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	127	0	0	0	1	0	5	127					A	16902242	G	A	16902242	3	1	490	1	0	0	0	0	1	0	0	0	10781	1145	40	1	2655	1	NWD1	19	16902242	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	13968655	16902242	42226741	36	39686											
ZNF708	7562	broad.mit.edu	37	chr19	21492112	21492112	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttttccttgctccagacaGgtgatcaggtctaaattaga	8	9	3	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:21492112G>C	ENST00000356929.3	-	3	359	c.162C>G	c.(160-162)acC>acG	p.T54T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCCAGACAGGTGATCAGGT	0.408																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(160-162)acC>acG		zinc finger protein 708							111	109	109					19																	21492112		2203	4300	6503	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21492112G>C	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.162C>G	19.37:g.21492112G>C							p.T54T	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			3	359	-			54			KRAB.		Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.162C>G	CCDS32980.1																																																																																				0.408	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		5	248	0	0	0	1	0	5	248					C	21492112	G	C	21492112	2	2	490	1	0	0	0	0	0	0	0	1	18109	987	35	4		4	ZNF708	19	21492112	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	4589870	21492112	37636871	37	39687											
NLRP5	126206	broad.mit.edu	37	chr19	56539876	56539876	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtggtccctctatgGtgagtaccccaggcagtttt	11	11	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:56539876G>A	ENST00000390649.3	+	7	2276		c.e7+1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5						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)		TCCCTCTATGGTGAGTACCCC	0.527																																						ENST00000390649.3																			0				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						c.e7+1		NLR family, pyrin domain containing 5							124	124	124					19																	56539876		2007	4182	6189	SO:0001630	splice_region_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539876G>A	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.2276+1G>A	19.37:g.56539876G>A								NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2276	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)						A8MTY4|Q86W29	Splice_Site	SNP	ENST00000390649.3	37		CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115533	0.20795	.	.	ENSG00000171487	ENST00000390649	.	.	.	2.98	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.678	0.40052	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP5	61231688	0.999000	0.42202	0.215000	0.23724	0.007000	0.05969	2.984000	0.49353	1.971000	0.57363	0.561000	0.74099	.		0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	Intron	5	170	0	0	0	1	0	5	170					A	56539876	G	A	56539876	5	1	490	1	0	0	0	0	0	0	1	0	10480	1275	44	2	2303	2	NLRP5	19	56539876	Splice_Site	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	35047764	56539876	2589107	38	39688											
SSTR4	6754	broad.mit.edu	37	chr20	23017160	23017160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagcccctggactactAtgccactgctctcaagagca	11	13	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:23017160A>G	ENST00000255008.3	+	1	1104	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	347					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGACTACTATGCCACTGCT	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(1039-1041)tAt>tGt		somatostatin receptor 4							39	44	42					20																	23017160		2150	4258	6408	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017160A>G		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1040A>G	20.37:g.23017160A>G	ENSP00000255008:p.Tyr347Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.Y347C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	1104	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		347					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1040A>G	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	A	3.860	-0.030010	0.07543	.	.	ENSG00000132671	ENST00000255008	T	0.65549	-0.16	3.65	1.18	0.20946	.	2.310920	0.02248	U	0.066348	T	0.51075	0.1653	L	0.31926	0.97	0.32872	D	0.509392	B	0.16396	0.017	B	0.12156	0.007	T	0.42498	-0.9448	10	0.46703	T	0.11	.	4.2591	0.10732	0.5829:0.2129:0.2042:0.0	.	347	P31391	SSR4_HUMAN	C	347	ENSP00000255008:Y347C	ENSP00000255008:Y347C	Y	+	2	0	SSTR4	22965160	0.614000	0.27017	0.712000	0.30502	0.514000	0.34195	0.235000	0.17948	-0.002000	0.14469	0.533000	0.62120	TAT		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			10	37	0	0	0	1	0	10	37					G	23017160	A	G	23017160	3	3	490	1	0	0	0	0	1	0	0	0	15199	449	16	3	1042	3	SSTR4	20	23017160	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08		23017160	40008360	39	39689											
ELMO2	63916	broad.mit.edu	37	chr20	45002149	45002149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggtaaagaacatcggGtggtagtcattgcgtccttc	12	8	2	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:45002149G>A	ENST00000290246.6	-	16	1499	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	ELMO2_ENST00000372176.1_Silent_p.H347H|ELMO2_ENST00000396391.1_Silent_p.H435H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000488853.1_5'Flank	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	435	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)				AGAACATCGGGTGGTAGTCAT	0.498																																						ENST00000372176.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1039-1041)caC>caT		engulfment and cell motility 2							127	110	116					20																	45002149		2203	4300	6503	SO:0001819	synonymous_variant	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45002149G>A	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.1305C>T	20.37:g.45002149G>A						ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000290246.6_Silent_p.H435H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000396391.1_Silent_p.H435H	p.H347H			Q96JJ3	ELMO2_HUMAN			16	1509	-		Myeloproliferative disorder(115;0.0122)	435			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	ENST00000290246.6	37	c.1041C>T	CCDS13398.1																																																																																				0.498	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		10	41	0	0	0	1	0	10	41					A	45002149	G	A	45002149	2	1	490	1	0	0	0	0	0	0	0	1	5066	1252	44	2		2	ELMO2	20	45002149	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	21984989	45002149	18023371	40	39690											
B3GALT5	10317	broad.mit.edu	37	chr21	41033275	41033275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggagctccactcccaGccgaccttttttccaggggg	12	13	0	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr21:41033275G>A	ENST00000380620.4	+	5	1381	c.789G>A	c.(787-789)caG>caA	p.Q263Q	B3GALT5_ENST00000398714.2_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q263Q|B3GALT5_ENST00000343118.4_Silent_p.Q263Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	263					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)				TCCACTCCCAGCCGACCTTTT	0.542																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(787-789)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							84	83	83					21																	41033275		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033275G>A	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.789G>A	21.37:g.41033275G>A						B3GALT5_ENST00000380618.1_Silent_p.Q263Q|B3GALT5_ENST00000398714.2_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.Q263Q	p.Q263Q			Q9Y2C3	B3GT5_HUMAN			5	1381	+		Prostate(19;2.55e-06)	263					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.789G>A	CCDS13667.1																																																																																				0.542	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		8	128	0	0	0	1	0	8	128					A	41033275	G	A	41033275	2	1	490	1	0	0	0	0	0	0	0	1	1250	962	34	2		2	B3GALT5	21	41033275	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		41033275	7096620	41	39691											
ATRX	546	broad.mit.edu	37	chrX	76938484	76938484	+	Frame_Shift_Del	DEL	T	T	-													tatggtttgtatgaatttcaTtaatatcagtatctgaagaa							TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chrX:76938484delT	ENST00000373344.5	-	9	2478	c.2264delA	c.(2263-2265)aatfs	p.N755fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	755					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						ATGAATTTCATTAATATCAGT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2263-2265)atfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						125	124	124					X																	76938484		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938484delT	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.2264delA	X.37:g.76938484delT	ENSP00000362441:p.Asn755fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs	p.N755fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2478	-			755					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2264delA	CCDS14434.1																																																																																				0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		192	69						192	69	---	---	---	---	-	76938484	T	-	76938484	7	5	490	1	0	1	0	1	0	0	0	0	1208	1493	52	0	5322	0	ATRX	23	76938484	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RR-01A-21D-A34A-08		76938484	78332076	42	39692											
PQLC3	130814	broad.mit.edu	37	chr2	11312154	11312154	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcgctgacttggagcctctCttcctatacctgtgcaagta	9	12	1	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:11312154C>T	ENST00000295083.3	+	5	633	c.458C>T	c.(457-459)tCt>tTt	p.S153F	PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	153						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAGCCTCTCTTCCTATACC	0.507																																						ENST00000295083.3																			0				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(457-459)tCt>tTt		PQ loop repeat containing 3							100	94	96					2																	11312154		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11312154C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 22"	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.458C>T	2.37:g.11312154C>T	ENSP00000295083:p.Ser153Phe					PQLC3_ENST00000402361.1_Intron|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F|PQLC3_ENST00000476787.1_3'UTR	p.S153F	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	5	633	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		153					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.458C>T	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318424	0.60524	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908	D;T;D	0.88975	-2.45;-0.53;-2.09	5.95	5.95	0.96441	.	0.169796	0.53938	D	0.000059	D	0.89808	0.6822	M	0.71036	2.16	0.21386	N	0.999701	P;P	0.47409	0.895;0.836	P;P	0.47528	0.548;0.549	T	0.82246	-0.0552	10	0.09843	T	0.71	-25.5364	18.1662	0.89727	0.0:1.0:0.0:0.0	.	153;153	B4DWA4;Q8N755	.;PQLC3_HUMAN	F	176;153;153	ENSP00000410430:S176F;ENSP00000295083:S153F;ENSP00000406148:S153F	ENSP00000295083:S153F	S	+	2	0	PQLC3	11229605	1.000000	0.71417	0.012000	0.15200	0.371000	0.29859	6.127000	0.71642	2.824000	0.97209	0.655000	0.94253	TCT		0.507	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		5	183	0	0	0	1	0	5	183					T	11312154	C	T	11312154	3	4	491	1	0	0	0	0	1	0	0	0	12420	913	32	2	476	2	PQLC3	2	11312154	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		11312154	231887219	1	39693											
SLC9A4	389015	broad.mit.edu	37	chr2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctaaagagattctgatcCgccgccagaacaccttaagg	10	11	1	3	rs201264205		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1888-1890)Cgc>Tgc		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4		C	CYS/ARG	0,4406		0,0,2203	159	166	164		1888	5.8	1	2		164	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A4	NM_001011552.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	630/799	103141552	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141552C>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1888C>T	2.37:g.103141552C>T	ENSP00000295269:p.Arg630Cys						p.R630C	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2345	+			630					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1888C>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073447	0.76415	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.48201	0.82	5.84	5.84	0.93424	.	0.153751	0.56097	D	0.000026	T	0.56124	0.1964	M	0.86268	2.805	0.58432	D	0.999996	B	0.32350	0.366	B	0.28916	0.096	T	0.61163	-0.7118	10	0.62326	D	0.03	.	18.9173	0.92510	0.0:1.0:0.0:0.0	.	630	Q6AI14	SL9A4_HUMAN	C	630	ENSP00000295269:R630C	ENSP00000295269:R630C	R	+	1	0	SLC9A4	102507984	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.751000	0.62169	2.765000	0.95021	0.643000	0.83706	CGC		0.502	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		158	213	0	0	0	1	0	158	213					T	103141552	C	T	103141552	3	4	491	1	0	0	0	0	1	0	0	0	14716	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	91829398	103141552	140057821	2	39694											
SLC20A1	6574	broad.mit.edu	37	chr2	113404716	113404716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcaagggctgctgatggCcggctcagtcagtgctatgt	14	10	3	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:113404716C>T	ENST00000272542.3	+	2	850	c.311C>T	c.(310-312)gCc>gTc	p.A104V	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	104					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGCTGATGGCCGGCTCAGTC	0.488																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(310-312)gCc>gTc		solute carrier family 20 (phosphate transporter), member 1							166	143	151					2																	113404716		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404716C>T		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.311C>T	2.37:g.113404716C>T	ENSP00000272542:p.Ala104Val						p.A104V	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			2	850	+			104					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.311C>T	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115963	0.56505	.	.	ENSG00000144136	ENST00000272542	D	0.90324	-2.65	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	L	0.54323	1.7	0.80722	D	1	B	0.33379	0.41	B	0.44224	0.444	D	0.88860	0.3325	10	0.32370	T	0.25	-14.4315	17.2043	0.86914	0.0:1.0:0.0:0.0	.	104	Q8WUM9	S20A1_HUMAN	V	104	ENSP00000272542:A104V	ENSP00000272542:A104V	A	+	2	0	SLC20A1	113121187	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.997000	0.70646	2.733000	0.93635	0.591000	0.81541	GCC		0.488	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		4	131	0	0	0	1	0	4	131					T	113404716	C	T	113404716	3	4	491	1	0	0	0	0	1	0	0	0	14438	739	26	2	313	2	SLC20A1	2	113404716	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	10263164	113404716	129794657	3	39695											
FAM126B	285172	broad.mit.edu	37	chr2	201862255	201862255	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgagaaaactcaggActtcaaacctaaaaacaaca	5	10	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:201862255A>C	ENST00000418596.3	-	8	726	c.539T>G	c.(538-540)gTc>gGc	p.V180G	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	180						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAAACTCAGGACTTCAAACCT	0.358																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(538-540)gTc>gGc		family with sequence similarity 126, member B							80	76	77					2																	201862255		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201862255A>C	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.539T>G	2.37:g.201862255A>C	ENSP00000393667:p.Val180Gly					AC005037.3_ENST00000413848.1_RNA	p.V180G	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			8	726	-			180					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.539T>G	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.683664	0.68157	.	.	ENSG00000155744	ENST00000418596;ENST00000452799	D;D	0.83591	-1.74;-1.74	5.26	4.07	0.47477	.	0.137363	0.48767	D	0.000163	D	0.90909	0.7143	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91056	0.4882	10	0.87932	D	0	-8.7993	11.473	0.50280	0.8492:0.1508:0.0:0.0	.	180	Q8IXS8	F126B_HUMAN	G	180	ENSP00000393667:V180G;ENSP00000401905:V180G	ENSP00000393667:V180G	V	-	2	0	FAM126B	201570500	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.462000	0.90374	0.791000	0.33826	0.383000	0.25322	GTC		0.358	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		5	162	0	0	0	1	0	5	162					C	201862255	A	C	201862255	3	2	491	1	0	0	0	0	1	0	0	0	5430	275	10	5	1073	5	FAM126B	2	201862255	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08	88457539	201862255	41337118	4	39696											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			75	95	0	0	0	1	0	75	95					T	209113112	C	T	209113112	3	4	491	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	7250857	209113112	34086261	5	39697											
INPP5D	3635	broad.mit.edu	37	chr2	234112925	234112925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaatcccccaaaatgccGcggaaggaacccccgccctg	10	17	0	0	rs372583486		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:234112925G>A	ENST00000359570.5	+	28	3093	c.3093G>A	c.(3091-3093)ccG>ccA	p.P1031P	INPP5D_ENST00000455936.2_Silent_p.P795P|INPP5D_ENST00000450745.1_Silent_p.P795P|RN7SL32P_ENST00000580514.1_RNA			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1043	Pro-rich.				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)	p.P1043P(1)		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)		CCAAAATGCCGCGGAAGGAAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14783	0.001		0.0	False		,,,				2504	0.0				NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			1	Substitution - coding silent(1)	p.P1043P(1)	endometrium(1)	central_nervous_system(1)|ovary(1)	2						c.(3091-3093)ccG>ccA		inositol polyphosphate-5-phosphatase, 145kDa		G	,	1,3827		0,1,1913	34	45	42		2389,2389	2	0.3	2		42	1,8223		0,1,4111	no	coding-synonymous,coding-synonymous	INPP5D	NM_001017915.1,NM_005541.3	,	0,2,6024	AA,AG,GG		0.0122,0.0261,0.0166	,	1043/1190,1042/1189	234112925	2,12050	1914	4112	6026	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112925G>A	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.3093G>A	2.37:g.234112925G>A						INPP5D_ENST00000455936.2_Missense_Mutation_p.795_795insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.795_795insP	p.1031_1031insP			Q92835	SHIP1_HUMAN		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)	28	3093	+		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)	0			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.3093G>A																																																																																					0.647	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		63	65	0	0	0	1	0	63	65					A	234112925	G	A	234112925	2	1	491	1	0	0	0	0	0	0	0	1	7756	1074	38	1		1	INPP5D	2	234112925	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	24999813	234112925	9086448	6	39698											
PXK	54899	broad.mit.edu	37	chr3	58368278	58368278	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcttcctcccaaaaaatTgattggtaacatggatcgtg	7	10	1	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:58368278T>C	ENST00000356151.2	+	4	348	c.239T>C	c.(238-240)tTg>tCg	p.L80S	PXK_ENST00000302779.5_Missense_Mutation_p.L63S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Missense_Mutation_p.L47S|PXK_ENST00000383716.3_Missense_Mutation_p.L47S	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCCAAAAAATTGATTGGTAAC	0.338																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(139-141)tTg>tCg		PX domain containing serine/threonine kinase							96	91	93					3																	58368278		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58368278T>C	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.239T>C	3.37:g.58368278T>C	ENSP00000348472:p.Leu80Ser					PXK_ENST00000536660.1_Intron|PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000383716.3_Missense_Mutation_p.L47S|PXK_ENST00000356151.2_Missense_Mutation_p.L80S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000302779.5_Missense_Mutation_p.L63S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S	p.L47S			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	2	231	+			80			PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.140T>C	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598298	0.87055	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.76	5.76	0.90799	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;0.994;1.0;0.999;0.998	D;D;D;D;D;D	0.72338	0.977;0.948;0.917;0.977;0.961;0.918	T	0.58160	-0.7685	10	0.72032	D	0.01	-8.9219	16.0916	0.81094	0.0:0.0:0.0:1.0	.	47;47;47;80;63;80	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	S	80;63;47;47;63;80;63;71	ENSP00000348472:L80S;ENSP00000305045:L63S;ENSP00000373222:L47S;ENSP00000417903:L47S;ENSP00000373221:L63S;ENSP00000417915:L80S;ENSP00000419049:L63S;ENSP00000418831:L71S	ENSP00000305045:L63S	L	+	2	0	PXK	58343318	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.466000	0.80914	2.186000	0.69663	0.533000	0.62120	TTG		0.338	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771		12	123	0	0	0	1	0	12	123					C	58368278	T	C	58368278	3	2	491	1	0	0	0	0	1	0	0	0	12849	1821	63	3	253	3	PXK	3	58368278	Missense_Mutation	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08		58368278	139654152	7	39699											
FRMD4B	23150	broad.mit.edu	37	chr3	69230684	69230684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtgtcacacagtaataCtctgtgcttgattggcttgt	10	8	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:69230684C>T	ENST00000398540.3	-	21	2300	c.2217G>A	c.(2215-2217)gaG>gaA	p.E739E	FRMD4B_ENST00000478263.1_Silent_p.E391E|FRMD4B_ENST00000542259.1_Silent_p.E685E	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	739					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACAGTAATACTCTGTGCTTG	0.493																																						ENST00000542259.1																			0				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19						c.(2053-2055)gaG>gaA		FERM domain containing 4B							121	116	118					3																	69230684		1910	4126	6036	SO:0001819	synonymous_variant	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230684C>T	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2217G>A	3.37:g.69230684C>T						FRMD4B_ENST00000398540.3_Silent_p.E739E|FRMD4B_ENST00000478263.1_Silent_p.E391E	p.E685E			Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	22	2506	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	739					Q8TAI3	Silent	SNP	ENST00000398540.3	37	c.2055G>A	CCDS46863.1																																																																																				0.493	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			65	160	0	0	0	1	0	65	160					T	69230684	C	T	69230684	2	4	491	1	0	0	0	0	0	0	0	1	6052	564	20	2		2	FRMD4B	3	69230684	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	10862406	69230684	128791746	8	39700											
LSAMP	4045	broad.mit.edu	37	chr3	116163760	116163760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcctcacggtgatgTtgtccgtgcctcggttaaaa	10	14	1	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:116163760T>C	ENST00000490035.2	-	1	618	c.119A>G	c.(118-120)aAc>aGc	p.N40S	LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	40	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CACGGTGATGTTGTCCGTGCC	0.572																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(118-120)aAc>aGc		limbic system-associated membrane protein							113	94	100					3																	116163760		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:116163760T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.119A>G	3.37:g.116163760T>C	ENSP00000419000:p.Asn40Ser					LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	p.N40S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	1	618	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	40			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.119A>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554394	0.45487	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.47	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156705	0.42420	D	0.000716	T	0.28995	0.0720	L	0.51914	1.62	0.39881	D	0.973648	B;P	0.41313	0.004;0.745	B;B	0.43274	0.007;0.414	T	0.13150	-1.0520	10	0.54805	T	0.06	-8.8026	13.1465	0.59465	0.0:0.0:0.0:1.0	.	40;40	B2RCU8;Q13449	.;LSAMP_HUMAN	S	24;40;37;74	ENSP00000328455:N24S;ENSP00000419000:N40S;ENSP00000443429:N37S;ENSP00000418506:N74S	ENSP00000328455:N24S	N	-	2	0	LSAMP	117646450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	1.887000	0.54652	0.529000	0.55759	AAC		0.572	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		10	92	0	0	0	1	0	10	92					C	116163760	T	C	116163760	3	2	491	1	0	0	0	0	1	0	0	0	9048	1725	60	3	925	3	LSAMP	3	116163760	Missense_Mutation	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08	46933076	116163760	81858670	9	39701											
DHX15	1665	broad.mit.edu	37	chr4	24578065	24578065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtgacctgcatgtccgGcatgcgttgaatgagcagaa	13	9	0	4			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:24578065G>A	ENST00000336812.4	-	2	464	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGCATGTCCGGCATGCGTTGA	0.458																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(307-309)gCc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 15							312	292	299					4																	24578065		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578065G>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.308C>T	4.37:g.24578065G>A	ENSP00000336741:p.Ala103Val						p.A103V	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			2	464	-		Breast(46;0.0503)	103					Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.308C>T	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108091	0.56291	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.09723	2.95	5.43	5.43	0.79202	.	0.196562	0.36134	N	0.002763	T	0.06325	0.0163	N	0.08118	0	0.25391	N	0.988529	B	0.09022	0.002	B	0.12156	0.007	T	0.35126	-0.9801	10	0.17832	T	0.49	-28.5097	14.769	0.69662	0.0:0.0:1.0:0.0	.	103	O43143	DHX15_HUMAN	V	103;92	ENSP00000336741:A103V	ENSP00000336741:A103V	A	-	2	0	DHX15	24187163	0.994000	0.37717	0.794000	0.32065	0.149000	0.21700	4.489000	0.60309	2.546000	0.85860	0.655000	0.94253	GCC		0.458	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		4	208	0	0	0	1	0	4	208					A	24578065	G	A	24578065	3	1	491	1	0	0	0	0	1	0	0	0	4501	1203	42	2	2131	2	DHX15	4	24578065	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		24578065	166576211	10	39702											
PDGFRA	5156	broad.mit.edu	37	chr4	55133872	55133872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgattgaaaatctcactgAgatcaccactgatgtggaaa	8	8	3	4			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:55133872A>C	ENST00000257290.5	+	7	1416	c.1085A>C	c.(1084-1086)gAg>gCg	p.E362A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	362	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATCTCACTGAGATCACCACT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1084-1086)gAg>gCg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						46	44	45					4																	55133872		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133872A>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1085A>C	4.37:g.55133872A>C	ENSP00000257290:p.Glu362Ala	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.E362A	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1416	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		362			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1085A>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451741	0.84209	.	.	ENSG00000134853	ENST00000257290	T	0.54279	0.58	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.32459	U	0.006063	T	0.75064	0.3799	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.75803	-0.3189	10	0.34782	T	0.22	.	16.1296	0.81418	1.0:0.0:0.0:0.0	.	362;362	P16234-3;P16234	.;PGFRA_HUMAN	A	362	ENSP00000257290:E362A	ENSP00000257290:E362A	E	+	2	0	PDGFRA	54828629	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	7.951000	0.87819	2.216000	0.71823	0.379000	0.24179	GAG		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		12	93	0	0	0	1	0	12	93					C	55133872	A	C	55133872	3	2	491	1	0	0	0	0	1	0	0	0	11661	304	11	5	1107	5	PDGFRA	4	55133872	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08	30555807	55133872	136020404	11	39703											
TAF9	6880	broad.mit.edu	37	chr5	68660800	68660800	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcatcatcatcatcAtcgtcatcatcatcatcttc	2	13	11	0	rs548057941	byFrequency	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0.0	0.0058	5008	,	,		23660	0.0		0.0	False		,,,				2504	0.0					ENST00000328663.4																			1	Substitution - coding silent(1)	p.D255D(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(763-765)gaT>gaC		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							115	107	110					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1231	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	59					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		5	309	0	0	0	1	0	5	309					G	68660800	A	G	68660800	2	3	491	1	0	0	0	0	0	0	0	1	15532	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08		68660800	112254460	12	39704											
FBN2	2201	broad.mit.edu	37	chr5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcaggagaaatcctgcactCgtcgatgtctaattcacagg	10	10	3	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; 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)		ATCCTGCACTCGTCGATGTCT	0.458																																						ENST00000508053.1																			0				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						c.(3352-3354)Gag>Tag		fibrillin 2							78	71	73					5																	127674745		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674745C>A	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.3352G>T	5.37:g.127674745C>A	ENSP00000424571:p.Glu1118*					FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000507835.1_5'UTR	p.E1118*			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	32	4326	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1118			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.3352G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	48	13.896764	0.99769	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	5.13	5.13	0.70059	.	0.190428	0.35407	N	0.003238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7436	0.91784	0.0:1.0:0.0:0.0	.	.	.	.	X	1118;1118;1085	.	ENSP00000262464:E1118X	E	-	1	0	FBN2	127702644	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.606000	0.82863	2.819000	0.97034	0.585000	0.79938	GAG		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	161	1	0	4.68919e-08	1	5.21021e-08	10	161					A	127674745	C	A	127674745	4	1	491	1	0	0	0	0	0	1	0	0	5703	893	31	4	5546	4	FBN2	5	127674745	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	59013945	127674745	53240515	13	39705											
NFYA	4800	broad.mit.edu	37	chr6	41059406	41059407	+	Frame_Shift_Ins	INS	-	-	GTGGTCAA													cactaccagtggcaggcaatINSgtggtcaattcaggagggat							TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr6:41059406_41059407insGTGGTCAA	ENST00000341376.6	+	7	888_889	c.687_688insGTGGTCAA	c.(688-690)gtgfs	p.-230fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.-201fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha						cellular lipid metabolic process (GO:0044255)|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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCAGGCAATGTGGTCAATTC	0.436																																						ENST00000341376.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(685-690)aatggtfs		nuclear transcription factor Y, alpha																																				SO:0001589	frameshift_variant	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41059406_41059407insGTGGTCAA		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.688_695dupGTGGTCAA	6.37:g.41059407_41059414dupGTGGTCAA	ENSP00000345702:p.Val230fs					OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.NG200fs	p.NG229fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN			7	888_889	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		229					Q8IXU0	Frame_Shift_Ins	INS	ENST00000341376.6	37	c.687_688insGTGGTCAA	CCDS4849.1																																																																																				0.436	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			47	130						47	130	---	---	---	---	GTGGTCAA	41059407	-	GTGGTCAA	41059406	7	5	491	1	0	1	1	0	0	0	0	0	10389	1461	51	0	709	0	NFYA	6	41059406	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RS-01A-12D-A33T-08		41059406	130055661	14	39706											
AIMP2	7965	broad.mit.edu	37	chr7	6049111	6049111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctacggcccagcgccGggcgctggccacgtgcaggt	17	14	0	0	rs566052179		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:6049111G>A	ENST00000223029.3	+	1	236	c.117G>A	c.(115-117)ccG>ccA	p.P39P	PMS2_ENST00000469652.1_5'Flank|AIMP2_ENST00000395236.2_Silent_p.P39P|PMS2_ENST00000406569.3_5'Flank|PMS2_ENST00000265849.7_5'Flank|PMS2_ENST00000382321.4_5'Flank|AIMP2_ENST00000400479.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	39					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCCCAGCGCCGGGCGCTGGCC	0.761													g|||	1	0.000199681	0.0008	0.0	5008	,	,		10492	0.0		0.0	False		,,,				2504	0.0					ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(115-117)ccG>ccA		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							18	20	19					7																	6049111		2185	4253	6438	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6049111G>A	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.117G>A	7.37:g.6049111G>A						AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.P39P	p.P39P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			1	236	+			39					Q75MR1|Q96CZ5|Q9P1L2	Silent	SNP	ENST00000223029.3	37	c.117G>A	CCDS5344.1																																																																																				0.761	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		4	102	0	0	0	1	0	4	102					A	6049111	G	A	6049111	2	1	491	1	0	0	0	0	0	0	0	1	434	1103	39	1		1	AIMP2	7	6049111	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		6049111	153089552	15	39707											
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	274	0	0	0	1	0	4	274					C	66479413	T	C	66479413	2	2	491	1	0	0	0	0	0	0	0	1	16815	1567	55	3		3	TYW1	7	66479413	Silent	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08	60430302	66479413	92659250	16	39708											
MET	4233	broad.mit.edu	37	chr7	116414969	116414969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctcagaacggttcatgCcgacaagtgcagtatcctct	8	12	4	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:116414969C>T	ENST00000318493.6	+	15	3304	c.3117C>T	c.(3115-3117)tgC>tgT	p.C1039C	MET_ENST00000397752.3_Silent_p.C1021C|MET_ENST00000539704.1_5'Flank			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGTTCATGCCGACAAGTGC	0.413			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"papillary renal, head-neck squamous cell "		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3061-3063)tgC>tgT		met proto-oncogene							113	112	112					7																	116414969		2038	4211	6249	SO:0001819	synonymous_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116414969C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3117C>T	7.37:g.116414969C>T						MET_ENST00000318493.6_Silent_p.C1039C	p.C1021C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		15	3263	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1021					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.3063C>T	CCDS47689.1																																																																																				0.413	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	229	0	0	0	1	0	5	229					T	116414969	C	T	116414969	2	4	491	1	0	0	0	0	0	0	0	1	9485	747	26	2		2	MET	7	116414969	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	49935556	116414969	42723694	17	39709											
HABP4	22927	broad.mit.edu	37	chr9	99250419	99250419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgttttccggaaacccGccaatgacatcacatcccag	6	16	1	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr9:99250419G>A	ENST00000375249.4	+	7	1123	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCGGAAACCCGCCAATGACAT	0.532																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(1048-1050)Gcc>Acc		hyaluronan binding protein 4							143	139	140					9																	99250419		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99250419G>A	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1048G>A	9.37:g.99250419G>A	ENSP00000364398:p.Ala350Thr					HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	p.A350T	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			7	1123	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	350						Missense_Mutation	SNP	ENST00000375249.4	37	c.1048G>A	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542365	0.85917	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.43294	0.95;0.95	5.02	4.07	0.47477	.	0.178176	0.49916	N	0.000121	T	0.58047	0.2095	M	0.61703	1.905	0.39536	D	0.968743	D;D	0.89917	1.0;0.999	D;P	0.75020	0.985;0.88	T	0.60737	-0.7204	10	0.48119	T	0.1	-14.5325	11.2228	0.48866	0.0902:0.0:0.9098:0.0	.	245;350	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	T	245;350	ENSP00000364400:A245T;ENSP00000364398:A350T	ENSP00000364398:A350T	A	+	1	0	HABP4	98290240	1.000000	0.71417	0.910000	0.35882	0.957000	0.61999	3.736000	0.55052	1.379000	0.46325	-0.345000	0.07892	GCC		0.532	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		4	243	0	0	0	1	0	4	243					A	99250419	G	A	99250419	3	1	491	1	0	0	0	0	1	0	0	0	6939	1087	38	1	1074	1	HABP4	9	99250419	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		99250419	41963012	18	39710											
WDR37	22884	broad.mit.edu	37	chr10	1149739	1149739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggacggcaaacctgtaCgacgtggagacgtccgagct	14	12	0	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:1149739C>T	ENST00000358220.1	+	10	1068	c.924C>T	c.(922-924)taC>taT	p.Y308Y	WDR37_ENST00000263150.4_Silent_p.Y308Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	308										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAAACCTGTACGACGTGGAGA	0.612																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(922-924)taC>taT		WD repeat domain 37							56	50	52					10																	1149739		2203	4300	6503	SO:0001819	synonymous_variant	22884							g.chr10:1149739C>T	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.924C>T	10.37:g.1149739C>T						WDR37_ENST00000263150.4_Silent_p.Y308Y	p.Y308Y			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	1068	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	308					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Silent	SNP	ENST00000358220.1	37	c.924C>T	CCDS7057.1																																																																																				0.612	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		39	48	0	0	0	1	0	39	48					T	1149739	C	T	1149739	2	4	491	1	0	0	0	0	0	0	0	1	17288	547	19	1		1	WDR37	10	1149739	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		1149739	134385008	19	39711											
KIAA1217	56243	broad.mit.edu	37	chr10	24833288	24833289	+	Frame_Shift_Del	DEL	AG	AG	-													atacctcatgttcttccaacAgagattctgttgcaagttca							TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:24833288_24833289delAG	ENST00000376454.3	+	19	5119_5120	c.5089_5090delAG	c.(5089-5091)agafs	p.R1697fs	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.R1380fs|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1697					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						TTCTTCCAACAGAGATTCTGTT	0.505																																						ENST00000376451.2																			0				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						c.(4138-4140)afs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24833288_24833289delAG	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.5089_5090delAG	10.37:g.24833290_24833291delAG	ENSP00000365637:p.Arg1697fs					KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.R1697fs|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron	p.R1380fs			Q5T5P2	SKT_HUMAN			14	4398_4399	+			1697					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	37	c.4138_4139delAG	CCDS31165.1																																																																																				0.505	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		36	136						36	136	---	---	---	---	-	24833289	AG	-	24833288	7	5	491	1	0	1	0	1	0	0	0	0	8216	180	7	0	5163	0	KIAA1217	10	24833288	Frame_Shift_Del	DEL	AG	TCGA-TQ-A7RS-01A-12D-A33T-08	23683549	24833288	110701459	20	39712											
MPZL2	10205	broad.mit.edu	37	chr11	118133674	118133674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcccccgtctagaggaCgaaaattccaggtcactgtt	10	12	2	1	rs187771174		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr11:118133674C>T	ENST00000278937.2	-	2	325	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	66	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCTAGAGGACGAAAATTCCA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19517	0.001		0.0	False		,,,				2504	0.0					ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(196-198)cGt>cAt		myelin protein zero-like 2		C	HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	155	153	153		197,197	5.7	1	11		153	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	MPZL2	NM_005797.3,NM_144765.2	29,29	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	66/216,66/216	118133674	2,12990	2200	4296	6496	SO:0001583	missense	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133674C>T	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.197G>A	11.37:g.118133674C>T	ENSP00000278937:p.Arg66His					MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	p.R66H	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	325	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	66			Ig-like V-type.		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	c.197G>A	CCDS8393.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.7	4.443380	0.83993	2.27E-4	1.16E-4	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.94537	-3.45;-3.45	5.66	5.66	0.87406	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.150859	0.56097	D	0.000027	D	0.96965	0.9009	M	0.88979	2.995	0.47511	D	0.999448	D	0.89917	1.0	D	0.79784	0.993	D	0.95834	0.8860	10	0.33940	T	0.23	.	9.164	0.37041	0.0:0.8734:0.0:0.1266	.	66	O60487	MPZL2_HUMAN	H	66	ENSP00000278937:R66H;ENSP00000408362:R66H	ENSP00000278937:R66H	R	-	2	0	MPZL2	117638884	0.941000	0.31946	0.998000	0.56505	0.990000	0.78478	1.534000	0.36051	2.673000	0.90976	0.650000	0.86243	CGT		0.468	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		147	196	0	0	0	1	0	147	196					T	118133674	C	T	118133674	3	4	491	1	0	0	0	0	1	0	0	0	9750	536	19	1	466	1	MPZL2	11	118133674	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		118133674	16872842	21	39713											
GRIP1	23426	broad.mit.edu	37	chr12	66909479	66909479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcatggcttcagcatgcGtagttccaagaagccgaatt	9	10	2	1	rs141923622		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:66909479G>A	ENST00000398016.3	-	7	712	c.644C>T	c.(643-645)aCg>aTg	p.T215M	GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M|GRIP1_ENST00000359742.4_Missense_Mutation_p.T215M	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				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)		TTCAGCATGCGTAGTTCCAAG	0.453																																						ENST00000359742.4																			0				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						c.(643-645)aCg>aTg		glutamate receptor interacting protein 1		G	MET/THR,MET/THR	0,3926		0,0,1963	169	170	170		644,644	5.8	1	12	dbSNP_134	170	1,8313		0,1,4156	no	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	81,81	0,1,6119	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging	215/1062,215/1077	66909479	1,12239	1963	4157	6120	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66909479G>A	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.644C>T	12.37:g.66909479G>A	ENSP00000381098:p.Thr215Met					GRIP1_ENST00000398016.3_Missense_Mutation_p.T215M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M	p.T215M			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	7	884	-			215			PDZ 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.644C>T	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.208646|4.208646	0.79240|0.79240	0.0|0.0	1.2E-4|1.2E-4	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666	.|T;T;T;T;T;T;T;T	.|0.21734	.|1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.77|5.77	5.77|5.77	0.91146|0.91146	.|PDZ/DHR/GLGF (4);	.|0.050048	.|0.85682	.|D	.|0.000000	T|T	0.52125|0.52125	0.1715|0.1715	M|M	0.82716|0.82716	2.605|2.605	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|P;D;D	.|0.71184	.|0.761;0.972;0.935	T|T	0.51585|0.51585	-0.8687|-0.8687	5|9	.|.	.|.	.|.	-15.0665|-15.0665	19.9791|19.9791	0.97320|0.97320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|215;215;215	.|F5H4N6;Q9Y3R0;Q9Y3R0-3	.|.;GRIP1_HUMAN;.	C|M	30|215;215;215;86;215;159;159;188	.|ENSP00000381098:T215M;ENSP00000352780:T215M;ENSP00000286445:T215M;ENSP00000443006:T86M;ENSP00000446047:T215M;ENSP00000446024:T159M;ENSP00000446011:T159M;ENSP00000439124:T188M	.|.	R|T	-|-	1|2	0|0	GRIP1|GRIP1	65195746|65195746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	6.223000|6.223000	0.72257|0.72257	2.733000|2.733000	0.93635|0.93635	0.585000|0.585000	0.79938|0.79938	CGC|ACG		0.453	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			67	171	0	0	0	1	0	67	171					A	66909479	G	A	66909479	3	1	491	1	0	0	0	0	1	0	0	0	6787	1145	40	1	2658	1	GRIP1	12	66909479	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		66909479	66942416	22	39714											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(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)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	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						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	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.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		7	461	0	0	0	1	0	7	461					A	123780522	G	A	123780522	3	1	491	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	56871043	123780522	10071373	23	39715											
FOXA1	3169	broad.mit.edu	37	chr14	38061654	38061654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacccatggcgcccatgCcgctcgggctcagcgccgta	13	18	1	0			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:38061654C>T	ENST00000250448.2	-	2	396	c.335G>A	c.(334-336)gGc>gAc	p.G112D	FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	112					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGCGCCCATGCCGCTCGGGCT	0.741																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(334-336)gGc>gAc		forkhead box A1							11	13	12					14																	38061654		2108	4116	6224	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061654C>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.335G>A	14.37:g.38061654C>T	ENSP00000250448:p.Gly112Asp					FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	p.G112D	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	396	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		112					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.335G>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116850	0.56505	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.21734	1.99;1.99	4.3	3.4	0.38934	Fork-head N-terminal (1);	0.482765	0.21660	N	0.071039	T	0.21103	0.0508	N	0.22421	0.69	0.32058	N	0.596029	B	0.34181	0.44	B	0.43413	0.419	T	0.26292	-1.0107	10	0.56958	D	0.05	.	13.2451	0.60018	0.1601:0.8399:0.0:0.0	.	112	P55317	FOXA1_HUMAN	D	112;79	ENSP00000250448:G112D;ENSP00000440178:G79D	ENSP00000250448:G112D	G	-	2	0	FOXA1	37131405	0.456000	0.25744	0.988000	0.46212	0.687000	0.40016	1.127000	0.31357	1.008000	0.39264	0.511000	0.50034	GGC		0.741	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			3	35	0	0	0	1	0	3	35					T	38061654	C	T	38061654	3	4	491	1	0	0	0	0	1	0	0	0	5989	739	26	2	1087	2	FOXA1	14	38061654	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		38061654	69287886	24	39716											
G6PC	2538	broad.mit.edu	37	chr17	41052996	41052996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttcatcttggtgtccGtgatcgcagacctcaggaat	11	10	3	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:41052996G>A	ENST00000253801.2	+	1	182	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	G6PC_ENST00000592383.1_Missense_Mutation_p.V35M|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000585489.1_Missense_Mutation_p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	35					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGTGTCCGTGATCGCAGA	0.498																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(103-105)Gtg>Atg		glucose-6-phosphatase, catalytic subunit							160	129	140					17																	41052996		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41052996G>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.103G>A	17.37:g.41052996G>A	ENSP00000253801:p.Val35Met					G6PC_ENST00000592383.1_Missense_Mutation_p.V35M|G6PC_ENST00000585489.1_Missense_Mutation_p.V35M	p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	182	+		Breast(137;0.000143)	35					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.103G>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222163	0.09863	.	.	ENSG00000131482	ENST00000253801	T	0.76186	-1.0	5.27	-1.77	0.07982	.	0.529880	0.20187	N	0.097387	T	0.38558	0.1045	N	0.08118	0	0.09310	N	1	P;B	0.37423	0.594;0.017	B;B	0.24269	0.052;0.006	T	0.38351	-0.9665	10	0.41790	T	0.15	.	1.1492	0.01782	0.3913:0.1026:0.2913:0.2148	.	37;35	E7ENG5;P35575	.;G6PC_HUMAN	M	35	ENSP00000253801:V35M	ENSP00000253801:V35M	V	+	1	0	G6PC	38306522	0.922000	0.31269	0.002000	0.10522	0.379000	0.30106	0.995000	0.29706	-0.112000	0.11979	-0.142000	0.14014	GTG		0.498	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		4	233	0	0	0	1	0	4	233					A	41052996	G	A	41052996	3	1	491	1	0	0	0	0	1	0	0	0	6143	1145	40	1	105	1	G6PC	17	41052996	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		41052996	40142214	25	39717											
RECQL5	9400	broad.mit.edu	37	chr17	73658663	73658663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatcatagaagaggttggCccggaagcagggagtcttga	14	8	2	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:73658663C>T	ENST00000317905.5	-	4	826	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	RECQL5_ENST00000423245.2_Missense_Mutation_p.A196T|RECQL5_ENST00000420326.2_Missense_Mutation_p.A223T|RECQL5_ENST00000340830.5_Missense_Mutation_p.A223T|RECQL5_ENST00000584999.1_Missense_Mutation_p.A223T	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	223					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAGGTTGGCCCGGAAGCAG	0.532								Other identified genes with known or suspected DNA repair function																														ENST00000420326.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(667-669)Gcc>Acc	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							227	238	234					17																	73658663		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658663C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.667G>A	17.37:g.73658663C>T	ENSP00000317636:p.Ala223Thr					RECQL5_ENST00000340830.5_Missense_Mutation_p.A223T|RECQL5_ENST00000317905.5_Missense_Mutation_p.A223T|RECQL5_ENST00000584999.1_Missense_Mutation_p.A223T|RECQL5_ENST00000423245.2_Missense_Mutation_p.A196T	p.A223T	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	826	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		223					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.667G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036276	0.35893	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.56776	0.44;0.7;0.69	5.51	4.51	0.55191	DEAD-like helicase (1);	0.314786	0.39083	N	0.001462	T	0.41994	0.1183	L	0.31065	0.9	0.33001	D	0.526204	B;B;B	0.29716	0.255;0.255;0.082	B;B;B	0.29862	0.108;0.075;0.037	T	0.57476	-0.7805	10	0.66056	D	0.02	-8.056	12.8515	0.57860	0.4452:0.5548:0.0:0.0	.	223;196;223	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	T	223	ENSP00000317636:A223T;ENSP00000414933:A223T;ENSP00000341983:A223T	ENSP00000317636:A223T	A	-	1	0	RECQL5	71170258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.748000	0.47483	1.420000	0.47138	0.555000	0.69702	GCC		0.532	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		5	602	0	0	0	1	0	5	602					T	73658663	C	T	73658663	3	4	491	1	0	0	0	0	1	0	0	0	13203	739	26	2	2463	2	RECQL5	17	73658663	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	32605667	73658663	7536547	26	39718											
SERPINB4	6318	broad.mit.edu	37	chr18	61306946	61306946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctttgaaatagattgcGttcacaagaaccagtgtcgt	9	9	1	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	178					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(532-534)aaC>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 4							95	95	95					18																	61306946		2202	4299	6501	SO:0001819	synonymous_variant	6318							g.chr18:61306946G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.534C>T	18.37:g.61306946G>A						SERPINB4_ENST00000356424.6_Silent_p.N178N	p.N178N	NM_002974.2	NP_002965.1					6	649	-								A8K847	Silent	SNP	ENST00000341074.5	37	c.534C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418253	0.01136	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.27	-5.42	0.02640	.	.	.	.	.	T	0.64327	0.2588	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64398	-0.6417	4	.	.	.	.	15.5031	0.75716	0.8871:0.0:0.1129:0.0	.	.	.	.	M	180	.	.	T	-	2	0	SERPINB4	59457926	0.328000	0.24687	0.310000	0.25168	0.001000	0.01503	-0.181000	0.09740	-1.653000	0.01500	-3.130000	0.00060	ACG		0.318	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		86	119	0	0	0	1	0	86	119					A	61306946	G	A	61306946	2	1	491	1	0	0	0	0	0	0	0	1	14103	1136	40	1		1	SERPINB4	18	61306946	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		61306946	16770302	27	39719											
LPHN1	22859	broad.mit.edu	37	chr19	14266957	14266957	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctggagtcgggcttgagCacagatgagcttcggatcat	15	9	1	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:14266957C>A	ENST00000340736.6	-	18	3402	c.3105G>T	c.(3103-3105)gtG>gtT	p.V1035V	LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1035					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGCTTGAGCACAGATGAGC	0.667																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3103-3105)gtG>gtT		latrophilin 1							68	58	61					19																	14266957		2203	4299	6502	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266957C>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3105G>T	19.37:g.14266957C>A						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000588387.1_RNA	p.V1035V	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			18	3402	-			1035					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3105G>T	CCDS32928.1																																																																																				0.667	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		4	36	1	0	2.56e-06	1	2.7234e-06	4	36					A	14266957	C	A	14266957	2	1	491	1	0	0	0	0	0	0	0	1	8915	697	25	4		4	LPHN1	19	14266957	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		14266957	44862026	28	39720											
RYR1	6261	broad.mit.edu	37	chr19	38991258	38991258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccagctaatccaagccGgcaagggtgaggccctgcgg	13	15	0	1	rs375148516		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:38991258G>A	ENST00000359596.3	+	46	7336	c.7336G>A	c.(7336-7338)Ggc>Agc	p.G2446S	RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S|RYR1_ENST00000355481.4_Missense_Mutation_p.G2446S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2446	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)	AATCCAAGCCGGCAAGGGTGA	0.637																																						ENST00000355481.4																			0				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						c.(7336-7338)Ggc>Agc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	SER/GLY,SER/GLY	0,4406		0,0,2203	55	50	52		7336,7336	1.8	1	19		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2446/5039,2446/5034	38991258	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991258G>A	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.7336G>A	19.37:g.38991258G>A	ENSP00000352608:p.Gly2446Ser					RYR1_ENST00000359596.3_Missense_Mutation_p.G2446S|RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S	p.G2446S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		46	7467	+	all_cancers(60;7.91e-06)		2446			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7336G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283255	0.23392	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99113	-5.44;-5.44;-5.44	3.99	1.78	0.24846	.	0.000000	0.64402	U	0.000003	D	0.98520	0.9506	M	0.81802	2.56	0.42174	D	0.991655	D;P	0.54047	0.964;0.94	P;B	0.49637	0.617;0.413	D	0.97374	0.9978	10	0.72032	D	0.01	.	12.3244	0.55003	0.0:0.1274:0.7397:0.133	.	2446;2446	P21817-2;P21817	.;RYR1_HUMAN	S	2446	ENSP00000352608:G2446S;ENSP00000347667:G2446S;ENSP00000354254:G2446S	ENSP00000347667:G2446S	G	+	1	0	RYR1	43683098	1.000000	0.71417	0.978000	0.43139	0.212000	0.24457	7.700000	0.84556	0.017000	0.15025	-2.712000	0.00134	GGC		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			36	42	0	0	0	1	0	36	42					A	38991258	G	A	38991258	3	1	491	1	0	0	0	0	1	0	0	0	13768	1116	39	1	7518	1	RYR1	19	38991258	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	24724301	38991258	20137725	29	39721											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	13	12	1	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000572681.2_Missense_Mutation_p.R1111W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		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)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	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						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63	67	66					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	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.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	50	0	0	0	1	0	10	50					T	42791718	C	T	42791718	3	4	491	1	0	0	0	0	1	0	0	0	3424	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	3800460	42791718	16337265	30	39722											
CIC	23152	broad.mit.edu	37	chr19	42791806	42791806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacaaccggaccgtcaGcaagatcctgggcgagtggt	14	12	1	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791806G>T	ENST00000575354.2	+	5	732	c.692G>T	c.(691-693)aGc>aTc	p.S231I	CIC_ENST00000160740.3_Missense_Mutation_p.S231I|CIC_ENST00000572681.2_Missense_Mutation_p.S1140I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231					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)				CGGACCGTCAGCAAGATCCTG	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3418-3420)aGc>aTc		capicua transcriptional repressor							81	75	77					19																	42791806		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791806G>T	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.692G>T	19.37:g.42791806G>T	ENSP00000458663:p.Ser231Ile					CIC_ENST00000575354.2_Missense_Mutation_p.S231I|CIC_ENST00000160740.3_Missense_Mutation_p.S231I	p.S1140I			Q96RK0	CIC_HUMAN			6	3487	+		Prostate(69;0.00682)	231			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3419G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232277	0.58777	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.87672	0.6236	H	0.97659	4.05	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91853	0.5493	8	0.87932	D	0	-14.3951	14.5138	0.67807	0.0:0.0:1.0:0.0	.	231	Q96RK0	CIC_HUMAN	I	231	.	ENSP00000160740:S231I	S	+	2	0	CIC	47483646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.284000	0.76573	0.555000	0.69702	AGC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			45	40	1	0	5.37117e-13	1	6.10361e-13	45	40					T	42791806	G	T	42791806	3	4	491	1	0	0	0	0	1	0	0	0	3424	971	34	4	710	4	CIC	19	42791806	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	88	42791806	16337177	31	39723											
NLRP4	147945	broad.mit.edu	37	chr19	56370141	56370141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaggagttctgtgccgCcttgttctatttgctcaaga	9	10	3	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:56370141C>T	ENST00000301295.6	+	3	1804	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	461	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGTGCCGCCTTGTTCTAT	0.512																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1381-1383)gCc>gTc		NLR family, pyrin domain containing 4							147	143	144					19																	56370141		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370141C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1382C>T	19.37:g.56370141C>T	ENSP00000301295:p.Ala461Val					NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V|NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V	p.A461V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1804	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	461			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1382C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666303	0.47677	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.90133	-2.62;-2.62	4.1	3.05	0.35203	.	.	.	.	.	D	0.94614	0.8264	M	0.84156	2.68	0.34283	D	0.682379	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.967;1.0;0.998	D	0.95699	0.8747	9	0.72032	D	0.01	.	9.7717	0.40593	0.0:0.8964:0.0:0.1036	.	461;386;461	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	461	ENSP00000301295:A461V;ENSP00000344787:A461V	ENSP00000301295:A461V	A	+	2	0	NLRP4	61061953	0.996000	0.38824	0.039000	0.18376	0.104000	0.19210	3.944000	0.56629	1.061000	0.40601	0.655000	0.94253	GCC		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		33	137	0	0	0	1	0	33	137					T	56370141	C	T	56370141	3	4	491	1	0	0	0	0	1	0	0	0	10479	739	26	2	1388	2	NLRP4	19	56370141	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	13578335	56370141	2758842	32	39724											
C20orf194	25943	broad.mit.edu	37	chr20	3268422	3268422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctgtccatgatttggCgatacaccatccatctggaa	9	11	1	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr20:3268422C>T	ENST00000252032.9	-	27	2409	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	C20orf194_ENST00000453730.2_Silent_p.S489S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	781								p.R781H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CATGATTTGGCGATACACCAT	0.522																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.R781H(1)	endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2341-2343)cGc>cAc		chromosome 20 open reading frame 194							108	105	106					20																	3268422		1978	4173	6151	SO:0001583	missense	25943							g.chr20:3268422C>T	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.2342G>A	20.37:g.3268422C>T	ENSP00000252032:p.Arg781His					C20orf194_ENST00000453730.2_Silent_p.S489S	p.R781H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			27	2409	-			781					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2342G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576353	0.86645	.	.	ENSG00000088854	ENST00000252032	T	0.23950	1.88	4.79	4.79	0.61399	.	0.130953	0.50627	D	0.000116	T	0.49029	0.1533	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.50065	-0.8871	10	0.66056	D	0.02	.	16.7639	0.85519	0.0:1.0:0.0:0.0	.	520;781	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	781	ENSP00000252032:R781H	ENSP00000252032:R781H	R	-	2	0	C20orf194	3216422	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.269000	0.58890	2.485000	0.83878	0.650000	0.86243	CGC		0.522	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		4	195	0	0	0	1	0	4	195					T	3268422	C	T	3268422	3	4	491	1	0	0	0	0	1	0	0	0	2099	768	27	1	1235	1	C20orf194	20	3268422	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		3268422	59757098	33	39725											
AMELX	265	broad.mit.edu	37	chrX	11316389	11316389	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtggtaccagagcataAggccaccggtatgtagacat	12	8	0	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:11316389A>T	ENST00000380714.3	+	4	204	c.136A>T	c.(136-138)Agg>Tgg	p.R46W	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|AMELX_ENST00000380712.3_Missense_Mutation_p.R60W	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	46					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						CCAGAGCATAAGGCCACCGGT	0.353																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(178-180)Agg>Tgg		amelogenin, X-linked							193	195	194					X																	11316389		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316389A>T		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.136A>T	X.37:g.11316389A>T	ENSP00000370090:p.Arg46Trp					ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.R46W	p.R60W	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			5	246	+			46					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.178A>T	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140581	0.56936	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.89485	-2.52;-2.52;-2.52	5.32	2.73	0.32206	.	0.091236	0.44688	D	0.000430	D	0.92446	0.7602	M	0.82323	2.585	0.30531	N	0.767462	B;B;D	0.89917	0.0;0.001;1.0	B;B;D	0.97110	0.003;0.005;1.0	D	0.87565	0.2474	10	0.87932	D	0	3.813	2.3662	0.04319	0.5622:0.2093:0.0917:0.1368	.	30;46;60	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	W	46;60;30	ENSP00000370090:R46W;ENSP00000370088:R60W;ENSP00000335312:R30W	ENSP00000335312:R30W	R	+	1	2	AMELX	11226310	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	1.013000	0.29937	0.748000	0.32831	0.412000	0.27726	AGG		0.353	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		5	482	0	0	0	1	0	5	482					T	11316389	A	T	11316389	3	4	491	1	0	0	0	0	1	0	0	0	569	63	3	5	192	5	AMELX	23	11316389	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08		11316389	143954171	34	39726											
AMMECR1	9949	broad.mit.edu	37	chrX	109561295	109561295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccccgcagcaacccgccGccatcttggaacagtctccc	7	20	3	0			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:109561295G>A	ENST00000262844.5	-	1	172	c.5C>T	c.(4-6)gCg>gTg	p.A2V	AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V|AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	2										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAACCCGCCGCCATCTTGGA	0.706																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(4-6)gCg>gTg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1							11	8	9					X																	109561295		1810	3543	5353	SO:0001583	missense	9949							g.chrX:109561295G>A	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.5C>T	X.37:g.109561295G>A	ENSP00000262844:p.Ala2Val					AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V	p.A2V	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	172	-			2					Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	c.5C>T	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.108550	0.77096	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	4.01	4.01	0.46588	.	0.056786	0.64402	D	0.000001	T	0.68458	0.3003	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	T	0.68104	-0.5497	8	.	.	.	0.38	15.2641	0.73649	0.0:0.0:1.0:0.0	.	2;2	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	V	2	.	.	A	-	2	0	AMMECR1	109447951	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.719000	0.74718	1.855000	0.53841	0.151000	0.16131	GCG		0.706	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			7	17	0	0	0	1	0	7	17					A	109561295	G	A	109561295	3	1	491	1	0	0	0	0	1	0	0	0	578	1087	38	1	1020	1	AMMECR1	23	109561295	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	98244906	109561295	45709265	35	39727											
BCORL1	63035	broad.mit.edu	37	chrX	129149179	129149179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaaacccacggggccgGcaaatatttatccccggtgt	12	11	0	0			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:129149179G>A	ENST00000218147.7	+	4	2628	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T	BCORL1_ENST00000540052.1_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T|BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	811					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						CACGGGGCCGGCAAATATTTA	0.572																																						ENST00000540052.1																			0				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						c.(2431-2433)Gca>Aca		BCL6 corepressor-like 1							47	52	50					X																	129149179		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149179G>A	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.2431G>A	X.37:g.129149179G>A	ENSP00000218147:p.Ala811Thr					BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T|BCORL1_ENST00000218147.7_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T	p.A811T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	2475	+			811					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2431G>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.478|7.478	0.648157|0.648157	0.14516|0.14516	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.41065|.	1.01;1.36;1.01;1.01;1.43|.	4.96|4.96	2.15|2.15	0.27550|0.27550	.|.	0.215417|.	0.23510|.	N|.	0.047406|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.03608|0.03608	-0.345|-0.345	0.18873|0.18873	N|N	0.999984|0.999984	B;B|.	0.25169|.	0.119;0.005|.	B;B|.	0.25506|.	0.061;0.005|.	T|T	0.29671|0.29671	-1.0004|-1.0004	10|5	0.09590|.	T|.	0.72|.	-0.8515|-0.8515	6.7146|6.7146	0.23296|0.23296	0.3271:0.0:0.6729:0.0|0.3271:0.0:0.6729:0.0	.|.	811;811|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	T|D	811;811;811;811;411|246	ENSP00000218147:A811T;ENSP00000307541:A811T;ENSP00000352253:A811T;ENSP00000437775:A811T;ENSP00000399483:A411T|.	ENSP00000218147:A811T|.	A|G	+|+	1|2	0|0	BCORL1|BCORL1	128976860|128976860	0.975000|0.975000	0.34042|0.34042	0.383000|0.383000	0.26132|0.26132	0.990000|0.990000	0.78478|0.78478	1.225000|1.225000	0.32551|0.32551	0.016000|0.016000	0.14998|0.14998	0.431000|0.431000	0.28591|0.28591	GCA|GGC		0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	249	0	0	0	1	0	4	249					A	129149179	G	A	129149179	3	1	491	1	0	0	0	0	1	0	0	0	1387	1203	42	2	2441	2	BCORL1	23	129149179	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	19587884	129149179	26121381	36	39728											
C4BPA	722	broad.mit.edu	37	chr1	207307914	207307914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagatggcacgtggagtcCccgaacaccatcatgtggag	14	10	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr1:207307914C>T	ENST00000367070.3	+	9	1444	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	417	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P417L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACGTGGAGTCCCCGAACACCA	0.393																																						ENST00000367070.3																			1	Substitution - Missense(1)	p.P417L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1249-1251)cCc>cTc		complement component 4 binding protein, alpha							135	126	129					1																	207307914		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207307914C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1250C>T	1.37:g.207307914C>T	ENSP00000356037:p.Pro417Leu						p.P417L	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			9	1444	+			417			Sushi 6.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1250C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637841	0.67130	.	.	ENSG00000123838	ENST00000367070	T	0.65916	-0.18	4.67	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.52532	D	0.000075	T	0.75845	0.3905	M	0.73962	2.25	0.29235	N	0.873046	D	0.76494	0.999	D	0.71656	0.974	T	0.70916	-0.4742	10	0.30854	T	0.27	.	13.4317	0.61059	0.0:1.0:0.0:0.0	.	417	P04003	C4BPA_HUMAN	L	417	ENSP00000356037:P417L	ENSP00000356037:P417L	P	+	2	0	C4BPA	205374537	0.113000	0.22115	0.060000	0.19600	0.346000	0.29079	3.092000	0.50207	2.303000	0.77524	0.591000	0.81541	CCC		0.393	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			19	128	0	0	0	1	0	19	128					T	207307914	C	T	207307914	3	4	492	1	0	0	0	0	1	0	0	0	2249	623	22	2	1280	2	C4BPA	1	207307914	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		207307914	41942707	1	39729											
ST3GAL5	8869	broad.mit.edu	37	chr2	86073608	86073608	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggtcagacagtggtgcGccctctggataagtcatcct	11	11	4	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:86073608G>A	ENST00000377332.3	-	5	849	c.741C>T	c.(739-741)ggC>ggT	p.G247G	ST3GAL5_ENST00000393808.3_Silent_p.G224G|ST3GAL5_ENST00000393805.1_Silent_p.G219G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	247					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGTGGTGCGCCCTCTGGAT	0.348																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(739-741)ggC>ggT		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							123	119	120					2																	86073608		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86073608G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.741C>T	2.37:g.86073608G>A						ST3GAL5_ENST00000393805.1_Silent_p.G219G|ST3GAL5_ENST00000393808.3_Silent_p.G224G	p.G247G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			5	849	-			247					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.741C>T	CCDS1986.2																																																																																				0.348	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		37	66	0	0	0	1	0	37	66					A	86073608	G	A	86073608	2	1	492	1	0	0	0	0	0	0	0	1	15217	1074	38	1		1	ST3GAL5	2	86073608	Silent	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		86073608	157125765	2	39730											
TTN	7273	broad.mit.edu	37	chr2	179569118	179569118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcacatcctgaagatgCcgttcccatgcaggctctgt	10	12	2	3	rs373179866		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:179569118C>T	ENST00000591111.1	-	104	29252	c.29028G>A	c.(29026-29028)cgG>cgA	p.R9676R	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.R9993R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13754	Ig-like 78.				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)			CCTGAAGATGCCGTTCCCATG	0.403																																						ENST00000589042.1																			0				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						c.(29977-29979)cgG>cgA		titin							184	177	179					2																	179569118		1988	4175	6163	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569118C>T	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.29028G>A	2.37:g.179569118C>T						TTN_ENST00000591111.1_Silent_p.R9676R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	p.R9993R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		106	30203	-			9676			Glu-rich.		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	ENST00000591111.1	37	c.29979G>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	242	0	0	0	1	0	5	242					T	179569118	C	T	179569118	2	4	492	1	0	0	0	0	0	0	0	1	16732	726	26	2		2	TTN	2	179569118	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	93495510	179569118	63630255	3	39731											
DNAH7	56171	broad.mit.edu	37	chr2	196619149	196619149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaattgtgtatttcctggcGtagttctgctgggcaccggt	14	8	1	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:196619149G>A	ENST00000312428.6	-	63	11776	c.11676C>T	c.(11674-11676)taC>taT	p.Y3892Y	DNAH7_ENST00000409063.1_Silent_p.Y375Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3892					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						ATTTCCTGGCGTAGTTCTGCT	0.478																																						ENST00000312428.6																			0				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						c.(11674-11676)taC>taT		dynein, axonemal, heavy chain 7							114	113	113					2																	196619149		1913	4123	6036	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196619149G>A	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.11676C>T	2.37:g.196619149G>A						DNAH7_ENST00000409063.1_Silent_p.Y375Y	p.Y3892Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			63	11776	-			3892					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11676C>T	CCDS42794.1																																																																																				0.478	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		29	33	0	0	0	1	0	29	33					A	196619149	G	A	196619149	2	1	492	1	0	0	0	0	0	0	0	1	4606	1140	40	1		1	DNAH7	2	196619149	Silent	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	17050031	196619149	46580224	4	39732											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			44	62	0	0	0	1	0	44	62					T	209113112	C	T	209113112	3	4	492	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	12493963	209113112	34086261	5	39733											
CLSTN2	64084	broad.mit.edu	37	chr3	140178466	140178466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgatcttcaagtttgaCggcaggcagggtgccaaagt	14	7	2	3	rs369133728		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					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						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				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						c.(1075-1077)gaC>gaT		calsyntenin 2		C		0,4406		0,0,2203	80	69	73		1077	-10.8	0.1	3		73	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLSTN2	NM_022131.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		359/956	140178466	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178466C>T	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.1077C>T	3.37:g.140178466C>T		HNSCC(16;0.037)				RP11-68L1.2_ENST00000503357.1_RNA	p.D359D	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			7	1267	+			359					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1077C>T	CCDS3112.1																																																																																				0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		8	51	0	0	0	1	0	8	51					T	140178466	C	T	140178466	2	4	492	1	0	0	0	0	0	0	0	1	3562	535	19	1		1	CLSTN2	3	140178466	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		140178466	57843964	6	39734											
PLS1	5357	broad.mit.edu	37	chr3	142389859	142389859	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcaagaattaaaaagcaaaGatatcagcaaaacattccga	6	7	1	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:142389859G>C	ENST00000337777.3	+	4	472	c.259G>C	c.(259-261)Gat>Cat	p.D87H	PLS1_ENST00000457734.2_Missense_Mutation_p.D87H|PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|RN7SKP25_ENST00000362449.1_RNA	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	87						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAAGCAAAGATATCAGCAA	0.323																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(259-261)Gat>Cat		plastin 1							108	101	103					3																	142389859		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142389859G>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.259G>C	3.37:g.142389859G>C	ENSP00000336831:p.Asp87His					PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|PLS1_ENST00000457734.2_Missense_Mutation_p.D87H	p.D87H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			4	472	+			87					A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.259G>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251013	0.59212	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000476044;ENST00000464320;ENST00000337777;ENST00000497002	T;T;T;T;T;T	0.75154	2.84;2.84;-0.91;2.84;2.84;2.84	5.74	5.74	0.90152	EF-hand-like domain (1);	0.087086	0.85682	D	0.000000	T	0.70876	0.3274	L	0.28115	0.83	0.80722	D	1	P	0.44578	0.838	P	0.44990	0.466	T	0.74757	-0.3557	10	0.87932	D	0	-26.1834	19.9173	0.97066	0.0:0.0:1.0:0.0	.	87	Q14651	PLSI_HUMAN	H	87;87;8;87;87;87	ENSP00000387890:D87H;ENSP00000417311:D87H;ENSP00000417481:D8H;ENSP00000418880:D87H;ENSP00000336831:D87H;ENSP00000418700:D87H	ENSP00000336831:D87H	D	+	1	0	PLS1	143872549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.479000	0.53165	2.707000	0.92482	0.563000	0.77884	GAT		0.323	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		62	59	0	0	0	1	0	62	59					C	142389859	G	C	142389859	3	2	492	1	0	0	0	0	1	0	0	0	12107	942	33	4	269	4	PLS1	3	142389859	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	2211393	142389859	55632571	7	39735											
OCIAD1	54940	broad.mit.edu	37	chr4	48835438	48835438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatagggcctgattacattCcaacagaggaagaaaggaga	11	7	0	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:48835438C>T	ENST00000381473.3	+	3	497	c.79C>T	c.(79-81)Cca>Tca	p.P27S	OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000425583.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	27	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGATTACATTCCAACAGAGGA	0.318																																						ENST00000425583.2																			0				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(79-81)Cca>Tca		OCIA domain containing 1							64	67	66					4																	48835438		2203	4300	6503	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48835438C>T	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.79C>T	4.37:g.48835438C>T	ENSP00000370882:p.Pro27Ser					OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P27S|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S	p.P27S	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			3	354	+			27			OCIA.		C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.79C>T	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514423	0.85389	.	.	ENSG00000109180	ENST00000504654;ENST00000509664;ENST00000514981;ENST00000511662;ENST00000508996;ENST00000507210;ENST00000264312;ENST00000396448;ENST00000512236;ENST00000509164;ENST00000511102;ENST00000381473;ENST00000444354;ENST00000509963;ENST00000425583;ENST00000508293;ENST00000513391	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.68317	2.08	0.38386	D	0.945261	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.994;0.996	T	0.68530	-0.5384	10	0.72032	D	0.01	-10.2353	16.1857	0.81950	0.0:1.0:0.0:0.0	.	27;27;27	Q9NX40-3;Q9NX40-2;Q9NX40	.;.;OCAD1_HUMAN	S	27	ENSP00000423381:P27S;ENSP00000422171:P27S;ENSP00000423845:P27S;ENSP00000424252:P27S;ENSP00000420917:P27S;ENSP00000264312:P27S;ENSP00000379725:P27S;ENSP00000426386:P27S;ENSP00000426902:P27S;ENSP00000427389:P27S;ENSP00000370882:P27S;ENSP00000399656:P27S;ENSP00000425633:P27S;ENSP00000416943:P27S;ENSP00000423002:P27S;ENSP00000423909:P27S	ENSP00000264312:P27S	P	+	1	0	OCIAD1	48530195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.274000	0.58921	2.546000	0.85860	0.655000	0.94253	CCA		0.318	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		23	48	0	0	0	1	0	23	48					T	48835438	C	T	48835438	3	4	492	1	0	0	0	0	1	0	0	0	10817	855	30	2	104	2	OCIAD1	4	48835438	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		48835438	142318838	8	39736											
NEK1	4750	broad.mit.edu	37	chr4	170428869	170428869	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatttctagtctataccttCagtgattcgatttttttgcg	6	8	4	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:170428869C>A	ENST00000439128.2	-	20	2464	c.1824G>T	c.(1822-1824)ctG>ctT	p.L608L	NEK1_ENST00000511633.1_Silent_p.L592L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L|NEK1_ENST00000507142.1_Silent_p.L636L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	608					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTATACCTTCAGTGATTCGA	0.338																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(1822-1824)ctG>ctT		NIMA-related kinase 1							120	111	114					4																	170428869		1832	4090	5922	SO:0001819	synonymous_variant	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170428869C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1824G>T	4.37:g.170428869C>A						NEK1_ENST00000511633.1_Silent_p.L592L|NEK1_ENST00000507142.1_Silent_p.L636L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L	p.L608L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	20	2464	-		Prostate(90;0.00601)|Renal(120;0.0183)	608					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Silent	SNP	ENST00000439128.2	37	c.1824G>T	CCDS47162.1																																																																																				0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			10	32	1	0	5.16669e-11	1	5.43393e-11	10	32					A	170428869	C	A	170428869	2	1	492	1	0	0	0	0	0	0	0	1	10321	813	29	4		4	NEK1	4	170428869	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	121593431	170428869	20725407	9	39737											
SKP2	6502	broad.mit.edu	37	chr5	36184025	36184025	+	3'UTR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaacttccaaactcaagtCcagccataagctattttgcc	5	13	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:36184025C>T	ENST00000274255.6	+	0	3363				SKP2_ENST00000274254.5_Missense_Mutation_p.S382F	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCAAGTCCAGCCATAAG	0.353																																						ENST00000274254.5																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(1144-1146)tCc>tTc		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							97	89	92					5																	36184025		2203	4300	6503	SO:0001624	3_prime_UTR_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36184025C>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.*1892C>T	5.37:g.36184025C>T						SKP2_ENST00000274255.6_3'UTR	p.S382F	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1419	+	all_lung(31;5.63e-05)		0					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.1145C>T	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983260	0.74474	.	.	ENSG00000145604	ENST00000274254	T	0.08720	3.06	5.0	5.0	0.66597	.	1.860390	0.02185	N	0.060823	T	0.29620	0.0739	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.00174	-1.1956	9	0.56958	D	0.05	-2.3665	13.6679	0.62407	0.0:1.0:0.0:0.0	.	382	Q13309-2	.	F	382	ENSP00000274254:S382F	ENSP00000274254:S382F	S	+	2	0	SKP2	36219782	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.246000	0.32803	2.618000	0.88619	0.650000	0.86243	TCC		0.353	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		5	81	0	0	0	1	0	5	81					T	36184025	C	T	36184025	1	4	492	0	1	0	0	0	0	0	0	0	14362	855	30	2		2	SKP2	5	36184025	3'UTR	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		36184025	144731235	10	39738											
SOX4	6659	broad.mit.edu	37	chr6	21595634	21595636	+	In_Frame_Del	DEL	AGA	AGA	-													cccgggcaagcacctggcggAgaagaaggtgaagcgcgtct							TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:21595634_21595636delAGA	ENST00000244745.1	+	1	1663_1665	c.869_871delAGA	c.(868-873)gagaag>gag	p.K292del	SOX4_ENST00000543472.1_In_Frame_Del_p.K292del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	292					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CACCTGGCGGAGAAGAAGGTGAA	0.754																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(868-873)gag>g		SRY (sex determining region Y)-box 4																																				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595634_21595636delAGA	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.869_871delAGA	6.37:g.21595637_21595639delAGA	ENSP00000244745:p.Lys292del					SOX4_ENST00000543472.1_In_Frame_Del_p.EK290del	p.EK290del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1663_1665	+	Ovarian(93;0.163)		290						In_Frame_Del	DEL	ENST00000244745.1	37	c.869_871delAGA	CCDS4547.1																																																																																				0.754	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		7	18						7	18	---	---	---	---	-	21595636	AGA	-	21595634	7	5	492	1	0	1	0	1	0	0	0	0	14953	304	11	0	871	0	SOX4	6	21595634	In_Frame_Del	DEL	AGA	TCGA-TQ-A7RU-01A-21D-A34A-08		21595634	149519433	11	39739											
ITPR3	3710	broad.mit.edu	37	chr6	33635015	33635015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctaccagcacatgttccGcctgtgctaccgcgtgttgc	9	17	0	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:33635015G>A	ENST00000374316.5	+	16	2721	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	554					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)	CACATGTTCCGCCTGTGCTAC	0.642																																						ENST00000374316.5																			0				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						c.(1660-1662)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							68	57	61					6																	33635015		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33635015G>A	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.1661G>A	6.37:g.33635015G>A	ENSP00000363435:p.Arg554His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H	p.R554H			Q14573	ITPR3_HUMAN			16	2721	+			554					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.1661G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878315	0.72294	.	.	ENSG00000096433	ENST00000374316	D	0.90620	-2.7	4.51	4.51	0.55191	Intracellular calcium-release channel (1);	0.060060	0.64402	D	0.000003	D	0.94722	0.8297	M	0.83483	2.645	0.53005	D	0.999967	D	0.76494	0.999	D	0.68192	0.956	D	0.95088	0.8219	10	0.59425	D	0.04	-26.2086	17.6079	0.88044	0.0:0.0:1.0:0.0	.	554	Q14573	ITPR3_HUMAN	H	554	ENSP00000363435:R554H	ENSP00000363435:R554H	R	+	2	0	ITPR3	33742993	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	7.949000	0.87791	2.222000	0.72286	0.462000	0.41574	CGC		0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		8	49	0	0	0	1	0	8	49					A	33635015	G	A	33635015	3	1	492	1	0	0	0	0	1	0	0	0	7922	1087	38	1	1719	1	ITPR3	6	33635015	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12039381	33635015	137480052	12	39740											
MDGA1	266727	broad.mit.edu	37	chr6	37613989	37613989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacgctctgtgtagtggaTgatgcgggaggccatgtcac	14	10	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:37613989T>C	ENST00000434837.3	-	11	3387	c.2209A>G	c.(2209-2211)Atc>Gtc	p.I737V	MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V|MDGA1_ENST00000297153.7_Missense_Mutation_p.I740V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	737	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGTAGTGGATGATGCGGGAG	0.592																																						ENST00000434837.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(2209-2211)Atc>Gtc		MAM domain containing glycosylphosphatidylinositol anchor 1							40	43	42					6																	37613989		2110	4230	6340	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37613989T>C	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2209A>G	6.37:g.37613989T>C	ENSP00000402584:p.Ile737Val					MDGA1_ENST00000297153.7_Missense_Mutation_p.I740V|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V	p.I737V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN			11	3387	-			737			Fibronectin type-III.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.2209A>G	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138897	0.77775	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.53206	0.63;0.63;0.63	5.91	4.74	0.60224	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000095	T	0.43678	0.1258	L	0.47716	1.5	0.45227	D	0.998237	B;D	0.53885	0.031;0.963	B;D	0.64877	0.016;0.93	T	0.34204	-0.9838	10	0.21540	T	0.41	.	11.4371	0.50074	0.0:0.0703:0.0:0.9297	.	737;737	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	V	737;740;737	ENSP00000402584:I737V;ENSP00000297153:I740V;ENSP00000422042:I737V	ENSP00000297153:I740V	I	-	1	0	MDGA1	37721967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	1.046000	0.40249	0.533000	0.62120	ATC		0.592	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			10	10	0	0	0	1	0	10	10					C	37613989	T	C	37613989	3	2	492	1	0	0	0	0	1	0	0	0	9406	1464	51	3	686	3	MDGA1	6	37613989	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	3978974	37613989	133501078	13	39741											
TDRD6	221400	broad.mit.edu	37	chr6	46656880	46656880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagacttttcggccccagCgctgtgcccaggtgcttcat	11	13	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:46656880C>T	ENST00000316081.6	+	1	1015	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	TDRD6_ENST00000544460.1_Missense_Mutation_p.R339C|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	339	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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)			TCGGCCCCAGCGCTGTGCCCA	0.557																																						ENST00000544460.1																			0				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						c.(1015-1017)Cgc>Tgc		tudor domain containing 6							93	90	91					6																	46656880		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656880C>T	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.1015C>T	6.37:g.46656880C>T	ENSP00000346065:p.Arg339Cys					TDRD6_ENST00000316081.6_Missense_Mutation_p.R339C	p.R339C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1269	+			339			Tudor 2.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1015C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635715	0.29068	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12039	2.72;2.72	5.54	4.67	0.58626	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.969853	0.08597	N	0.922161	T	0.03095	0.0091	N	0.22421	0.69	0.23602	N	0.997315	P;P	0.44380	0.801;0.834	B;B	0.37833	0.168;0.259	T	0.34601	-0.9822	10	0.54805	T	0.06	-12.1643	4.1668	0.10310	0.2536:0.5357:0.1326:0.0781	.	339;339	F5H5M3;O60522	.;TDRD6_HUMAN	C	339	ENSP00000443299:R339C;ENSP00000346065:R339C	ENSP00000346065:R339C	R	+	1	0	TDRD6	46764839	0.967000	0.33354	1.000000	0.80357	0.988000	0.76386	0.835000	0.27531	1.571000	0.49722	0.655000	0.94253	CGC		0.557	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		33	53	0	0	0	1	0	33	53					T	46656880	C	T	46656880	3	4	492	1	0	0	0	0	1	0	0	0	15731	768	27	1	1017	1	TDRD6	6	46656880	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	9042891	46656880	124458187	14	39742											
FHL5	9457	broad.mit.edu	37	chr6	97052768	97052768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaacgagtgctcctccaAgtgcttccactgcaagagga	9	12	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:97052768A>G	ENST00000326771.2	+	4	682	c.302A>G	c.(301-303)aAg>aGg	p.K101R	FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	101	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGCTCCTCCAAGTGCTTCCAC	0.512																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(301-303)aAg>aGg		four and a half LIM domains 5							109	99	103					6																	97052768		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97052768A>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.302A>G	6.37:g.97052768A>G	ENSP00000326022:p.Lys101Arg					FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	4	682	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	101			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.302A>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329709	0.41297	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87729	-2.29;-2.29;-2.29	5.36	4.19	0.49359	Zinc finger, LIM-type (3);	0.000000	0.47455	D	0.000224	T	0.61874	0.2382	L	0.28458	0.855	0.48830	D	0.999713	B	0.21225	0.053	B	0.23574	0.047	T	0.58329	-0.7655	10	0.05436	T	0.98	.	11.3419	0.49537	0.9283:0.0:0.0716:0.0	.	101	Q5TD97	FHL5_HUMAN	R	101	ENSP00000442357:K101R;ENSP00000326022:K101R;ENSP00000396390:K101R	ENSP00000326022:K101R	K	+	2	0	FHL5	97159489	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.250000	0.72435	0.974000	0.38366	-0.256000	0.11100	AAG		0.512	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		55	64	0	0	0	1	0	55	64					G	97052768	A	G	97052768	3	3	492	1	0	0	0	0	1	0	0	0	5881	72	3	3	308	3	FHL5	6	97052768	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08	50395888	97052768	74062299	15	39743											
REV3L	5980	broad.mit.edu	37	chr6	111710363	111710363	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctgtttcttcgccgttGcttttcatcttcccatatgg	6	11	4	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:111710363G>A	ENST00000358835.3	-	8	1262	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	REV3L_ENST00000435970.1_Nonsense_Mutation_p.Q192*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	270					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCGCCGTTGCTTTTCATCT	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(574-576)Caa>Taa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							234	200	212					6																	111710363		2203	4300	6503	SO:0001587	stop_gained	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111710363G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.808C>T	6.37:g.111710363G>A	ENSP00000351697:p.Gln270*					REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q270*	p.Q192*			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	9	1390	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	270					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.574C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	41	9.156865	0.99084	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	5.48	5.48	0.80851	.	0.166576	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-20.3553	19.7081	0.96082	0.0:0.0:1.0:0.0	.	.	.	.	X	270;270;270;192	.	ENSP00000351697:Q270X	Q	-	1	0	REV3L	111817056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.684000	0.91242	2.718000	0.92993	0.655000	0.94253	CAA		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		75	152	0	0	0	1	0	75	152					A	111710363	G	A	111710363	4	1	492	1	0	0	0	0	0	1	0	0	13240	1328	46	2	8688	2	REV3L	6	111710363	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	14657595	111710363	59404704	16	39744											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C													cgccctgggccccggcgctgINSccccctttgcccccctgcag							TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				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						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				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						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	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.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		6	12						6	12	---	---	---	---	C	44805119	-	C	44805118	7	5	492	1	0	1	1	0	0	0	0	0	17694	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RU-01A-21D-A34A-08		44805118	114333545	17	39745											
DBF4	10926	broad.mit.edu	37	chr7	87530171	87530171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgtgaatgttgcttgcAgaaatatgaagatctagaaa	9	3	1	5			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:87530171A>G	ENST00000265728.1	+	10	1406	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	301					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)				TGTTGCTTGCAGAAATATGAA	0.333																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(901-903)cAg>cGg		DBF4 homolog (S. cerevisiae)							127	144	138					7																	87530171		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87530171A>G	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.902A>G	7.37:g.87530171A>G	ENSP00000265728:p.Gln301Arg						p.Q301R	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			10	1406	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	301					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.902A>G	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132787	0.37630	.	.	ENSG00000006634	ENST00000265728	T	0.31510	1.49	4.93	3.75	0.43078	Zinc finger, DBF-type (3);	0.522243	0.19534	N	0.111970	T	0.27419	0.0673	L	0.50333	1.59	0.26043	N	0.981586	P;B	0.35468	0.503;0.163	B;B	0.36244	0.22;0.124	T	0.10086	-1.0645	10	0.32370	T	0.25	-0.07	9.522	0.39140	0.8425:0.0:0.0:0.1575	.	77;301	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	R	301	ENSP00000265728:Q301R	ENSP00000265728:Q301R	Q	+	2	0	DBF4	87368107	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.077000	0.41557	0.943000	0.37553	-0.468000	0.05107	CAG		0.333	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		4	138	0	0	0	1	0	4	138					G	87530171	A	G	87530171	3	3	492	1	0	0	0	0	1	0	0	0	4248	188	7	3	940	3	DBF4	7	87530171	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08	42725053	87530171	71608492	18	39746											
EPO	2056	broad.mit.edu	37	chr7	100320317	100320317	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccgtagaagtctggcagGgcctggccctgctgtcggaa	16	11	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:100320317G>T	ENST00000252723.2	+	4	458	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	93					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGTCTGGCAGGGCCTGGCCCT	0.657																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(277-279)Ggc>Tgc		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						22	25	24					7																	100320317		2186	4264	6450	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320317G>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.277G>T	7.37:g.100320317G>T	ENSP00000252723:p.Gly93Cys						p.G93C	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			4	458	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		93					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.277G>T	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275924	0.59649	.	.	ENSG00000130427	ENST00000252723	T	0.53857	0.6	4.5	4.5	0.54988	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.83012	2.62	0.47905	D	0.999542	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77156	-0.2691	10	0.87932	D	0	-11.2119	12.8779	0.57999	0.0:0.0:1.0:0.0	.	93;93	B7ZKK5;P01588	.;EPO_HUMAN	C	93	ENSP00000252723:G93C	ENSP00000252723:G93C	G	+	1	0	EPO	100158253	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.480000	0.60243	2.505000	0.84491	0.448000	0.29417	GGC		0.657	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		11	33	1	0	2.27111e-07	1	2.3481e-07	11	33					T	100320317	G	T	100320317	3	4	492	1	0	0	0	0	1	0	0	0	5188	1232	43	4	291	4	EPO	7	100320317	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12790146	100320317	58818346	19	39747											
TRPA1	8989	broad.mit.edu	37	chr8	72942140	72942140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactgcacttacctgcAtagctatcctcttcaatgat	7	12	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:72942140A>G	ENST00000262209.4	-	24	3140	c.2933T>C	c.(2932-2934)aTg>aCg	p.M978T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	978					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACTTACCTGCATAGCTATCCT	0.388																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2932-2934)aTg>aCg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						118	90	99					8																	72942140		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72942140A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2933T>C	8.37:g.72942140A>G	ENSP00000262209:p.Met978Thr					RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.M978T	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		24	3140	-			978					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2933T>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764807	0.69878	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.35973	1.28;1.28	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71227	-0.4655	10	0.87932	D	0	-31.3421	16.5582	0.84512	1.0:0.0:0.0:0.0	.	978	O75762	TRPA1_HUMAN	T	830;978	ENSP00000428151:M830T;ENSP00000262209:M978T	ENSP00000262209:M978T	M	-	2	0	TRPA1	73104694	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.732000	0.84908	2.308000	0.77769	0.533000	0.62120	ATG		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		20	35	0	0	0	1	0	20	35					G	72942140	A	G	72942140	3	3	492	1	0	0	0	0	1	0	0	0	16574	217	8	3	442	3	TRPA1	8	72942140	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		72942140	73421882	20	39748											
TMEM70	54968	broad.mit.edu	37	chr8	74891077	74891077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctaatttatactggcaaTatggcccgagcagtgtttgg	12	7	0	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:74891077T>G	ENST00000312184.5	+	2	370	c.297T>G	c.(295-297)aaT>aaG	p.N99K	Y_RNA_ENST00000365350.1_RNA|TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	99					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ATACTGGCAATATGGCCCGAG	0.358																																						ENST00000312184.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(295-297)aaT>aaG		transmembrane protein 70							158	171	167					8																	74891077		2203	4300	6503	SO:0001583	missense	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74891077T>G	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.297T>G	8.37:g.74891077T>G	ENSP00000312599:p.Asn99Lys					TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		2	370	+	Breast(64;0.0311)		99					E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	c.297T>G	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052195	0.55218	.	.	ENSG00000175606	ENST00000517439;ENST00000312184	T;T	0.62105	0.05;1.2	4.71	3.56	0.40772	.	0.129990	0.49305	D	0.000151	T	0.63189	0.2490	L	0.32530	0.975	0.42281	D	0.992097	D;B	0.67145	0.996;0.112	P;B	0.61658	0.892;0.069	T	0.62329	-0.6877	10	0.46703	T	0.11	-13.0918	8.7687	0.34719	0.0:0.1628:0.0:0.8372	.	99;99	E9PDY9;Q9BUB7	.;TMM70_HUMAN	K	99	ENSP00000429467:N99K;ENSP00000312599:N99K	ENSP00000312599:N99K	N	+	3	2	TMEM70	75053631	0.989000	0.36119	0.990000	0.47175	0.702000	0.40608	1.386000	0.34419	0.956000	0.37904	0.529000	0.55759	AAT		0.358	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		41	47	0	0	0	1	0	41	47					G	74891077	T	G	74891077	3	3	492	1	0	0	0	0	1	0	0	0	16196	1403	49	5	303	5	TMEM70	8	74891077	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	1948937	74891077	71472945	21	39749											
SLC7A13	157724	broad.mit.edu	37	chr8	87229959	87229959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcgatgatttaaataTagaaatcagaaggttgctaa	9	4	2	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:87229959T>C	ENST00000297524.3	-	3	1022	c.919A>G	c.(919-921)Ata>Gta	p.I307V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	307						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GATTTAAATATAGAAATCAGA	0.388																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(919-921)Ata>Gta		solute carrier family 7 (anionic amino acid transporter), member 13							77	89	85					8																	87229959		2203	4299	6502	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229959T>C	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.919A>G	8.37:g.87229959T>C	ENSP00000297524:p.Ile307Val					SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V|SLC7A13_ENST00000520624.1_5'UTR	p.I307V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1022	-			307					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.919A>G	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	1.456	-0.563600	0.03939	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89343	-2.5;-2.5	5.17	-2.75	0.05914	Amino acid permease domain (1);	0.537456	0.17222	N	0.182318	T	0.71576	0.3356	N	0.12853	0.265	0.09310	N	1	B;B	0.15141	0.012;0.002	B;B	0.16722	0.016;0.011	T	0.58875	-0.7559	10	0.14656	T	0.56	.	6.101	0.20047	0.1246:0.4033:0.0:0.4721	.	298;307	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	V	307;298	ENSP00000297524:I307V;ENSP00000410982:I298V	ENSP00000297524:I307V	I	-	1	0	SLC7A13	87299075	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.485000	0.06520	-0.184000	0.10567	-0.917000	0.02746	ATA		0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		15	165	0	0	0	1	0	15	165					C	87229959	T	C	87229959	3	2	492	1	0	0	0	0	1	0	0	0	14695	1406	49	3	501	3	SLC7A13	8	87229959	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	12338882	87229959	59134063	22	39750											
COLEC10	10584	broad.mit.edu	37	chr8	120079533	120079533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcaatgaatggctttGcatccttgcttcgaagaaac	8	11	0	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:120079533G>T	ENST00000332843.2	+	1	54	c.13G>T	c.(13-15)Gca>Tca	p.A5S	RP11-278I4.2_ENST00000518362.1_RNA|COLEC10_ENST00000521788.1_Intron	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	5						collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGGCTTTGCATCCTTGCT	0.423																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(13-15)Gca>Tca		collectin sub-family member 10 (C-type lectin)							95	90	92					8																	120079533		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120079533G>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.13G>T	8.37:g.120079533G>T	ENSP00000332723:p.Ala5Ser					COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	p.A5S	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		1	54	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		5					Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.13G>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	3.657	-0.070266	0.07228	.	.	ENSG00000184374	ENST00000332843	D	0.84944	-1.92	5.42	1.3	0.21679	.	0.770492	0.12761	N	0.441383	T	0.64907	0.2641	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49986	-0.8880	10	0.21540	T	0.41	-1.2417	3.6291	0.08124	0.4163:0.0:0.4138:0.1699	.	5	Q9Y6Z7	COL10_HUMAN	S	5	ENSP00000332723:A5S	ENSP00000332723:A5S	A	+	1	0	COLEC10	120148714	0.143000	0.22626	0.643000	0.29450	0.023000	0.10783	0.555000	0.23422	0.341000	0.23771	0.563000	0.77884	GCA		0.423	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			44	59	1	0	1.02591e-13	1	1.0979e-13	44	59					T	120079533	G	T	120079533	3	4	492	1	0	0	0	0	1	0	0	0	3710	1319	46	4	15	4	COLEC10	8	120079533	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	32849574	120079533	26284489	23	39751											
GLIS3	169792	broad.mit.edu	37	chr9	4118080	4118080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccgggtggtgaaggtgCgcatgggcatggtaaggggg	21	6	0	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:4118080C>T	ENST00000324333.10	-	3	1126	c.933G>A	c.(931-933)gcG>gcA	p.A311A	GLIS3_ENST00000381971.3_Silent_p.A466A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	311					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)		GGTGAAGGTGCGCATGGGCAT	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(931-933)gcG>gcA		GLIS family zinc finger 3							14	18	16					9																	4118080		2165	4221	6386	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118080C>T	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.933G>A	9.37:g.4118080C>T						GLIS3_ENST00000381971.3_Silent_p.A466A	p.A311A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1126	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	311					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.933G>A	CCDS6451.1																																																																																				0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		4	31	0	0	0	1	0	4	31					T	4118080	C	T	4118080	2	4	492	1	0	0	0	0	0	0	0	1	6447	755	27	1		1	GLIS3	9	4118080	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		4118080	137095351	24	39752											
CDKN2A	1029	broad.mit.edu	37	chr9	21994137	21994137	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcgagggcctttcctaCctggtcttctaggaagcggc	11	12	2	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:21994137C>T	ENST00000579755.1	-	1	486		c.e1+1		CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584351.1_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						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?(198)|p.?(2)|p.0(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)		GCCTTTCCTACCTGGTCTTCT	0.602		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	201	Whole gene deletion(199)|Unknown(2)	p.0?(198)|p.?(2)|p.0(1)	haematopoietic_and_lymphoid_tissue(34)|lung(33)|central_nervous_system(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(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	GRCh37	CS052061	p14arf	S		c.e1+1		cyclin-dependent kinase inhibitor 2A							13	15	14					9																	21994137		2171	4257	6428	SO:0001630	splice_region_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21994137C>T	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	ENST00000579755.1:c.193+1G>A	9.37:g.21994137C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron				P42771	CD2A1_HUMAN		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)	1	486	-		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)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000579755.1	37		CCDS6511.2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651409	0.67472	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2937	0.54833	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21984137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.177000	0.50871	2.367000	0.80283	0.555000	0.69702	.		0.602	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051918.5	NM_000077	Intron	6	15	0	0	0	1	0	6	15					T	21994137	C	T	21994137	5	4	492	1	0	0	0	0	0	0	1	0	3161	521	18	2	686	2	CDKN2A	9	21994137	Splice_Site	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	17876057	21994137	119219294	25	39753											
MAMDC2	256691	broad.mit.edu	37	chr9	72723223	72723223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaatggagctgcctccGtttggtctaccagataacca	11	10	1	2	rs534058708		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:72723223G>A	ENST00000377182.4	+	3	862	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	82	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTGCCTCCGTTTGGTCTAC	0.493																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(244-246)cGt>cAt		MAM domain containing 2							104	97	99					9																	72723223		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72723223G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.245G>A	9.37:g.72723223G>A	ENSP00000366387:p.Arg82His					MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	p.R82H	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			3	862	+			82			MAM 1.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.245G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	35	5.457744	0.96240	.	.	ENSG00000165072	ENST00000377182	T	0.02421	4.3	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00097	-1.2072	10	0.45353	T	0.12	-25.8512	20.3324	0.98724	0.0:0.0:1.0:0.0	.	82	Q7Z304	MAMC2_HUMAN	H	82	ENSP00000366387:R82H	ENSP00000366387:R82H	R	+	2	0	MAMDC2	71913043	1.000000	0.71417	0.937000	0.37676	0.987000	0.75469	9.027000	0.93706	2.799000	0.96334	0.650000	0.86243	CGT		0.493	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		9	59	0	0	0	1	0	9	59					A	72723223	G	A	72723223	3	1	492	1	0	0	0	0	1	0	0	0	9203	1145	40	1	255	1	MAMDC2	9	72723223	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	50729086	72723223	68490208	26	39754											
PRKCQ	5588	broad.mit.edu	37	chr10	6553002	6553002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcacctctcagccagCgagtagagctccacggtggt	11	14	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:6553002C>T	ENST00000263125.5	-	3	372	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PRKCQ_ENST00000397176.2_Silent_p.S91S|PRKCQ_ENST00000539722.1_5'UTR	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	91	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TCTCAGCCAGCGAGTAGAGCT	0.468																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(271-273)tcG>tcA		protein kinase C, theta							235	207	217					10																	6553002		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6553002C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.273G>A	10.37:g.6553002C>T						PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S	p.S91S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			3	372	-			91			C2.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.273G>A	CCDS7079.1																																																																																				0.468	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		5	181	0	0	0	1	0	5	181					T	6553002	C	T	6553002	2	4	492	1	0	0	0	0	0	0	0	1	12515	755	27	1		1	PRKCQ	10	6553002	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		6553002	128981745	27	39755											
SAMD8	142891	broad.mit.edu	37	chr10	76928352	76928352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaactgtattcttgcttcGctgctttaccatgtttgtga	10	8	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:76928352G>A	ENST00000542569.1	+	4	831	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SAMD8_ENST00000372687.4_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	243					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)			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)					TTCTTGCTTCGCTGCTTTACC	0.453																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(727-729)cGc>cAc		sterile alpha motif domain containing 8							342	311	321					10																	76928352		2203	4300	6503	SO:0001583	missense	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928352G>A	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.728G>A	10.37:g.76928352G>A	ENSP00000438042:p.Arg243His					SAMD8_ENST00000372687.3_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H	p.R243H	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			4	831	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		243					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.728G>A	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706617	0.96821	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97368	0.9139	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97812	1.0251	10	0.87932	D	0	-6.2394	19.5724	0.95427	0.0:0.0:1.0:0.0	.	243;243	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	H	243;306;243;243	ENSP00000391799:R243H;ENSP00000361775:R306H;ENSP00000438042:R243H;ENSP00000361772:R243H	ENSP00000361772:R243H	R	+	2	0	SAMD8	76598358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.624000	0.88883	0.650000	0.86243	CGC		0.453	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		5	208	0	0	0	1	0	5	208					A	76928352	G	A	76928352	3	1	492	1	0	0	0	0	1	0	0	0	13825	1087	38	1	738	1	SAMD8	10	76928352	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	70375350	76928352	58606395	28	39756											
FNBP4	23360	broad.mit.edu	37	chr11	47744591	47744591	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagctggtggtggtggAggaggaggaggaggaggtgg	26	1	0	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.					nucleus (GO:0005634)		p.P914P(1)		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						gtggtggtggaggaggaggag	0.463																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	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						c.(2740-2742)ccT>ccA		formin binding protein 4							15	15	15					11																	47744591		1997	4159	6156	SO:0001819	synonymous_variant	23360							g.chr11:47744591A>T	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.2742T>A	11.37:g.47744591A>T							p.P914P	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754	-			914			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	Silent	SNP	ENST00000263773.5	37	c.2742T>A	CCDS41644.1																																																																																				0.463	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	13	0	0	0	1	0	3	13					T	47744591	A	T	47744591	2	4	492	1	0	0	0	0	0	0	0	1	5967	291	11	5		5	FNBP4	11	47744591	Silent	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		47744591	87261925	29	39757											
FZD4	8322	broad.mit.edu	37	chr11	86662454	86662454	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacaggcaatcacacacgtTgcaggaactgtgtacagtac	9	10	1	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:86662454T>C	ENST00000531380.1	-	2	1649	c.1344A>G	c.(1342-1344)gcA>gcG	p.A448A	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	448					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACACACGTTGCAGGAACTG	0.393																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1342-1344)gcA>gcG		frizzled family receptor 4							165	148	154					11																	86662454		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662454T>C	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1344A>G	11.37:g.86662454T>C						PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	p.A448A	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1649	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	448					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.1344A>G	CCDS8279.1																																																																																				0.393	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		51	130	0	0	0	1	0	51	130					C	86662454	T	C	86662454	2	2	492	1	0	0	0	0	0	0	0	1	6132	1799	63	3		3	FZD4	11	86662454	Silent	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	38917863	86662454	48344062	30	39758											
SLCO1B1	10599	broad.mit.edu	37	chr12	21353502	21353502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgttatgtttgtgctttTgacgttgttacaagtaagca	10	4	0	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr12:21353502T>G	ENST00000256958.2	+	9	1127	c.1031T>G	c.(1030-1032)tTg>tGg	p.L344W		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	344					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|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)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTGTGCTTTTGACGTTGTTA	0.328																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1030-1032)tTg>tGg		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						114	104	107					12																	21353502		2203	4299	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21353502T>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1031T>G	12.37:g.21353502T>G	ENSP00000256958:p.Leu344Trp						p.L344W	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			9	1127	+			344					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1031T>G	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475737	0.26511	.	.	ENSG00000134538	ENST00000256958	T	0.60920	0.15	3.34	-2.4	0.06583	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.801060	0.02752	N	0.117568	T	0.67163	0.2864	M	0.67953	2.075	0.09310	N	1	D	0.62365	0.991	P	0.61275	0.886	T	0.55933	-0.8062	10	0.37606	T	0.19	.	4.5085	0.11899	0.0:0.3341:0.1704:0.4955	.	344	Q9Y6L6	SO1B1_HUMAN	W	344	ENSP00000256958:L344W	ENSP00000256958:L344W	L	+	2	0	SLCO1B1	21244769	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.403000	0.07214	-0.214000	0.10078	0.402000	0.26972	TTG		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		45	47	0	0	0	1	0	45	47					G	21353502	T	G	21353502	3	3	492	1	0	0	0	0	1	0	0	0	14723	1821	63	5	1061	5	SLCO1B1	12	21353502	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08		21353502	112498393	31	39759											
OLFM4	10562	broad.mit.edu	37	chr13	53624470	53624470	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactcaaactctccctaAtgctgcctataataaccgct	5	13	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr13:53624470A>T	ENST00000219022.2	+	5	1175	c.1097A>T	c.(1096-1098)aAt>aTt	p.N366I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	366	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACTCTCCCTAATGCTGCCTAT	0.403																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1096-1098)aAt>aTt		olfactomedin 4							206	201	203					13																	53624470		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624470A>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1097A>T	13.37:g.53624470A>T	ENSP00000219022:p.Asn366Ile						p.N366I	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1175	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	366			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1097A>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239333	0.58995	.	.	ENSG00000102837	ENST00000219022	T	0.11277	2.79	5.92	-1.21	0.09524	Olfactomedin-like (3);	1.326390	0.04476	N	0.376908	T	0.16557	0.0398	M	0.72353	2.195	0.09310	N	1	P	0.44380	0.834	P	0.46389	0.515	T	0.18085	-1.0348	10	0.52906	T	0.07	.	1.9847	0.03434	0.4929:0.2163:0.1863:0.1044	.	366	Q6UX06	OLFM4_HUMAN	I	366	ENSP00000219022:N366I	ENSP00000219022:N366I	N	+	2	0	OLFM4	52522471	0.000000	0.05858	0.015000	0.15790	0.394000	0.30568	0.350000	0.20079	-0.405000	0.07599	-0.297000	0.09499	AAT		0.403	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		139	161	0	0	0	1	0	139	161					T	53624470	A	T	53624470	3	4	492	1	0	0	0	0	1	0	0	0	10855	101	4	5	1115	5	OLFM4	13	53624470	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		53624470	61545408	32	39760											
SOS2	6655	broad.mit.edu	37	chr14	50626681	50626681	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctccataatgaattcAttacaacactgtccaatatc	4	12	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:50626681A>T	ENST00000216373.5	-	10	1594	c.1320T>A	c.(1318-1320)aaT>aaA	p.N440K	SOS2_ENST00000543680.1_Missense_Mutation_p.N407K|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	440					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)					TAATGAATTCATTACAACACT	0.363																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1318-1320)aaT>aaA		son of sevenless homolog 2 (Drosophila)							201	186	191					14																	50626681		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626681A>T	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.1320T>A	14.37:g.50626681A>T	ENSP00000216373:p.Asn440Lys					SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.N407K	p.N440K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1594	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		440					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1320T>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675547	0.47781	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88046	-2.33;-2.33	5.56	3.22	0.36961	Pleckstrin homology-type (1);	0.039164	0.85682	D	0.000000	D	0.85478	0.5706	M	0.65975	2.015	0.53005	D	0.999961	B;B;B	0.33694	0.311;0.378;0.421	B;B;B	0.37451	0.24;0.25;0.169	T	0.82424	-0.0464	10	0.87932	D	0	.	9.2956	0.37813	0.7313:0.0:0.2687:0.0	.	407;470;440	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	K	440;407	ENSP00000216373:N440K;ENSP00000445328:N407K	ENSP00000216373:N440K	N	-	3	2	SOS2	49696431	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.691000	0.37721	0.409000	0.25649	0.528000	0.53228	AAT		0.363	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			80	113	0	0	0	1	0	80	113					T	50626681	A	T	50626681	3	4	492	1	0	0	0	0	1	0	0	0	14937	214	8	5	2734	5	SOS2	14	50626681	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		50626681	56722859	33	39761											
SIN3A	25942	broad.mit.edu	37	chr15	75687040	75687040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatagatactctcaAtctcattgagtaagctctta	4	11	5	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:75687040A>G	ENST00000394947.3	-	14	2572	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T|SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T	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						GATACTCTCAATCTCATTGAG	0.418																																						ENST00000394947.3																			0				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						c.(2257-2259)aTt>aCt		SIN3 transcription regulator family member A							224	195	205					15																	75687040		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75687040A>G	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.2258T>C	15.37:g.75687040A>G	ENSP00000378402:p.Ile753Thr					SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T|SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T	p.I753T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			14	2572	-			753			Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.			Missense_Mutation	SNP	ENST00000394947.3	37	c.2258T>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.358792	0.82243	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.60548	0.18;0.18;0.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.80396	0.4615	H	0.96460	3.825	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	D	0.86863	0.2031	10	0.87932	D	0	-16.7567	15.4658	0.75400	1.0:0.0:0.0:0.0	.	753	Q96ST3	SIN3A_HUMAN	T	753	ENSP00000378402:I753T;ENSP00000378403:I753T;ENSP00000353622:I753T	ENSP00000353622:I753T	I	-	2	0	SIN3A	73474093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.334000	0.96470	2.306000	0.77630	0.482000	0.46254	ATT		0.418	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		63	155	0	0	0	1	0	63	155					G	75687040	A	G	75687040	3	3	492	1	0	0	0	0	1	0	0	0	14325	101	4	3	1595	3	SIN3A	15	75687040	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		75687040	26844352	34	39762											
SRRM2	23524	broad.mit.edu	37	chr16	2817164	2817164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagaatgtcccaggttcCagccccggtgcctctcatga	10	14	1	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:2817164C>A	ENST00000301740.8	+	11	7184	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2212	Ala-rich.|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						TCCCAGGTTCCAGCCCCGGTG	0.617																																						ENST00000301740.8																			0				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						c.(6634-6636)cCa>cAa		serine/arginine repetitive matrix 2							63	70	68					16																	2817164		2198	4299	6497	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817164C>A	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.6635C>A	16.37:g.2817164C>A	ENSP00000301740:p.Pro2212Gln						p.P2212Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7184	+			2212			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6635C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121079	0.37436	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.77877	-1.13	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000006	T	0.80243	0.4587	N	0.19112	0.55	0.36575	D	0.873222	D	0.71674	0.998	D	0.78314	0.991	D	0.84984	0.0890	10	0.72032	D	0.01	-13.0422	15.0149	0.71576	0.0:1.0:0.0:0.0	.	2212	Q9UQ35	SRRM2_HUMAN	Q	2212;1464	ENSP00000301740:P2212Q	ENSP00000301740:P2212Q	P	+	2	0	SRRM2	2757165	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.305000	0.59110	2.631000	0.89168	0.591000	0.81541	CCA		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	84	1	0	0.184627	1	0.184627	4	84					A	2817164	C	A	2817164	3	1	492	1	0	0	0	0	1	0	0	0	15168	594	21	4	6673	4	SRRM2	16	2817164	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		2817164	87537589	35	39763											
KCNAB3	9196	broad.mit.edu	37	chr17	7826851	7826851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgacaccctcactgcGgagacaccacgctggggcca	12	15	1	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:7826851G>A	ENST00000303790.2	-	13	1059	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	354					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCTCACTGCGGAGACACCAC	0.577																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(1060-1062)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, beta member 3							26	24	25					17																	7826851		2203	4300	6503	SO:0001583	missense	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7826851G>A	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"Potassium channels", "Aldo-keto reductases"	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.1060C>T	17.37:g.7826851G>A	ENSP00000302719:p.Arg354Cys						p.R354C	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			13	1059	-		Prostate(122;0.157)	354					Q4VAW0	Missense_Mutation	SNP	ENST00000303790.2	37	c.1060C>T	CCDS11124.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083367	0.76642	.	.	ENSG00000170049	ENST00000303790	T	0.25250	1.81	5.39	5.39	0.77823	NADP-dependent oxidoreductase domain (3);	0.052615	0.85682	D	0.000000	T	0.52468	0.1736	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.57423	-0.7814	10	0.87932	D	0	.	14.4149	0.67142	0.0:0.0:0.8524:0.1476	.	354	O43448	KCAB3_HUMAN	C	354	ENSP00000302719:R354C	ENSP00000302719:R354C	R	-	1	0	KCNAB3	7767576	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.530000	0.60595	2.701000	0.92244	0.549000	0.68633	CGC		0.577	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		3	14	0	0	0	1	0	3	14					A	7826851	G	A	7826851	3	1	492	1	0	0	0	0	1	0	0	0	8011	1116	39	1	162	1	KCNAB3	17	7826851	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		7826851	73368359	36	39764											
EFCAB5	374786	broad.mit.edu	37	chr17	28380480	28380480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaacatcaacaccatcacCaaacccgccagaacagcaga	6	15	2	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:28380480C>A	ENST00000394835.3	+	10	1700	c.1508C>A	c.(1507-1509)cCa>cAa	p.P503Q	EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	503							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCATCACCAAACCCGCCA	0.398																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1507-1509)cCa>cAa		EF-hand calcium binding domain 5							101	104	103					17																	28380480		1952	4149	6101	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380480C>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1508C>A	17.37:g.28380480C>A	ENSP00000378312:p.Pro503Gln					EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q	p.P503Q	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	1700	+			503					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1508C>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	3.683	-0.065115	0.07273	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.42513	1.97;0.97;2.98;2.99;2.3;1.97;2.98	4.96	1.8	0.24995	.	0.571260	0.14261	N	0.330811	T	0.16428	0.0395	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.15141	0.007;0.012;0.012;0.004;0.005;0.001	B;B;B;B;B;B	0.16289	0.007;0.015;0.009;0.01;0.005;0.002	T	0.25398	-1.0133	10	0.14252	T	0.57	-1.5548	4.4959	0.11837	0.1872:0.6169:0.0:0.1959	.	447;447;503;503;503;503	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	Q	447;246;160;503;503;503;503;447;309	ENSP00000440619:P447Q;ENSP00000445575:P160Q;ENSP00000378312:P503Q;ENSP00000322003:P503Q;ENSP00000378309:P503Q;ENSP00000368012:P503Q;ENSP00000417009:P309Q	ENSP00000322003:P503Q	P	+	2	0	EFCAB5	25404606	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.329000	0.07935	0.470000	0.27294	0.561000	0.74099	CCA		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		4	80	1	0	0.014758	1	0.015004	4	80					A	28380480	C	A	28380480	3	1	492	1	0	0	0	0	1	0	0	0	4938	594	21	4	1546	4	EFCAB5	17	28380480	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	20553629	28380480	52814730	37	39765											
TPM4	7171	broad.mit.edu	37	chr19	16178536	16178536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataagaaagccgctgaggaCaagtgcaagcaggtgaggtg	16	6	0	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:16178536C>T	ENST00000344824.6	+	1	220	c.102C>T	c.(100-102)gaC>gaT	p.D34D	CTD-2231E14.4_ENST00000585520.1_lincRNA|TPM4_ENST00000538887.1_Silent_p.D34D	NM_001145160.1	NP_001138632.1	P67936	TPM4_HUMAN	tropomyosin 4	152					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCGCTGAGGACAAGTGCAAGC	0.632			T	ALK	ALCL																																	ENST00000538887.1				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(100-102)gaC>gaT		tropomyosin 4							75	73	74					19																	16178536		1568	3582	5150	SO:0001819	synonymous_variant	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16178536C>T		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000344824.6:c.102C>T	19.37:g.16178536C>T						TPM4_ENST00000344824.6_Silent_p.D34D	p.D34D			P67936	TPM4_HUMAN			1	189	+			152					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Silent	SNP	ENST00000344824.6	37	c.102C>T	CCDS46007.1																																																																																				0.632	TPM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459672.2	NM_003290		28	43	0	0	0	1	0	28	43					T	16178536	C	T	16178536	2	4	492	1	0	0	0	0	0	0	0	1	16405	477	17	2		2	TPM4	19	16178536	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		16178536	42950447	38	39766											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	13	13	0	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000572681.2_Missense_Mutation_p.R1110W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		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)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	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						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65	70	68					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	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.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	55	0	0	0	1	0	8	55					T	42791715	C	T	42791715	3	4	492	1	0	0	0	0	1	0	0	0	3424	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	26613179	42791715	16337268	39	39767			1	53		2	2	43	C		6.24077e-05
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	12	15	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			40	24	0	0	0	1	0	40	24					T	42791757	C	T	42791757	3	4	492	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	42	42791757	16337226	40	39768			1	53		2	2	43	C		6.24077e-05
CALM3	808	broad.mit.edu	37	chr19	47111535	47111535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttggggacagtgatgagatCcctgggacagaaccccactg	14	10	0	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:47111535C>T	ENST00000291295.9	+	3	315	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|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)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|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 cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GTGATGAGATCCCTGGGACAG	0.577																																						ENST00000291295.9																			0				breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6						c.(115-117)tCc>tTc		calmodulin 3 (phosphorylase kinase, delta)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						105	88	93					19																	47111535		2203	4300	6503	SO:0001583	missense	808				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr19:47111535C>T		CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"EF-hand domain containing", "Endogenous ligands"	1449	protein-coding gene	gene with protein product	"prepro-calmodulin 3"	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.116C>T	19.37:g.47111535C>T	ENSP00000291295:p.Ser39Phe					CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F|CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F	p.S39F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	3	315	+		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	39			EF-hand 1.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000291295.9	37	c.116C>T	CCDS33061.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017049	0.54576	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	D	0.84442	-1.85	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000054	D	0.87752	0.6256	L	0.45698	1.435	0.80722	D	1	.	.	.	.	.	.	D	0.88694	0.3211	8	0.87932	D	0	-30.3693	16.2303	0.82332	0.0:1.0:0.0:0.0	.	.	.	.	F	39	ENSP00000291295:S39F	ENSP00000291295:S39F	S	+	2	0	CALM3	51803375	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.651000	0.83577	2.688000	0.91661	0.655000	0.94253	TCC		0.577	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			3	26	0	0	0	1	0	3	26					T	47111535	C	T	47111535	3	4	492	1	0	0	0	0	1	0	0	0	2586	855	30	2	126	2	CALM3	19	47111535	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	4319778	47111535	12017448	41	39769											
PARD6B	84612	broad.mit.edu	37	chr20	49354410	49354410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtttggagctgaatttcGtcggttttcgctggaaagat	12	5	0	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:49354410G>A	ENST00000371610.2	+	2	326	c.83G>A	c.(82-84)cGt>cAt	p.R28H	PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	28	OPR.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GCTGAATTTCGTCGGTTTTCG	0.323																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(82-84)cGt>cAt		par-6 family cell polarity regulator beta							60	60	60					20																	49354410		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49354410G>A	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.83G>A	20.37:g.49354410G>A	ENSP00000360672:p.Arg28His					PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			2	326	+			28			OPR.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.83G>A	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564659	0.86439	.	.	ENSG00000124171	ENST00000371610;ENST00000396039	T;T	0.26518	1.73;1.73	6.03	5.09	0.68999	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61811	-0.6986	10	0.87932	D	0	-15.9007	14.1541	0.65405	0.0712:0.0:0.9288:0.0	.	28	Q9BYG5	PAR6B_HUMAN	H	28	ENSP00000360672:R28H;ENSP00000379354:R28H	ENSP00000360672:R28H	R	+	2	0	PARD6B	48787817	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.431000	0.97494	1.557000	0.49525	0.557000	0.71058	CGT		0.323	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		27	59	0	0	0	1	0	27	59					A	49354410	G	A	49354410	3	1	492	1	0	0	0	0	1	0	0	0	11446	1145	40	1	89	1	PARD6B	20	49354410	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		49354410	13671110	42	39770											
C20orf20	55257	broad.mit.edu	37	chr20	61430826	61430826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttttttcatcttcagggaGtttggggaaagcatcagaaa	11	5	4	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:61430826G>A	ENST00000370487.3	+	5	517	c.446G>A	c.(445-447)aGt>aAt	p.S149N	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	149					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TCTTCAGGGAGTTTGGGGAAA	0.428																																						ENST00000370487.3																			0											c.(445-447)aGt>aAt		MRG/MORF4L binding protein							71	82	78					20																	61430826		2203	4300	6503	SO:0001583	missense	55257							g.chr20:61430826G>A	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"chromosome 20 open reading frame 20"	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.446G>A	20.37:g.61430826G>A	ENSP00000359518:p.Ser149Asn						p.S149N	NM_018270.4	NP_060740.1					5	517	+								A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.446G>A	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142429	0.21205	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.26	4.21	0.49690	.	0.528426	0.22978	N	0.053357	T	0.29223	0.0727	N	0.12182	0.205	0.46564	D	0.999107	B	0.09022	0.002	B	0.09377	0.004	T	0.12344	-1.0551	9	0.20519	T	0.43	-11.3841	7.0683	0.25164	0.2705:0.0:0.7295:0.0	.	149	Q9NV56	MRGBP_HUMAN	N	149	.	ENSP00000359518:S149N	S	+	2	0	C20orf20	60901271	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.166000	0.50785	2.441000	0.82636	0.655000	0.94253	AGT		0.428	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		42	40	0	0	0	1	0	42	40					A	61430826	G	A	61430826	3	1	492	1	0	0	0	0	1	0	0	0	2103	1029	36	2	464	2	C20orf20	20	61430826	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12076416	61430826	1594694	43	39771											
PHF5A	84844	broad.mit.edu	37	chr22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccacagatcacacagcGcccctggtaagatccatagt	7	15	1	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ACO2_ENST00000216254.4_5'Flank|ACO2_ENST00000396512.3_5'Flank|PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			1	Substitution - Missense(1)	p.R57S(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(169-171)Cgc>Tgc		PHD finger protein 5A							104	85	91					22																	41863526		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863526G>A	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"Zinc fingers, PHD-type"	18000	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 7"					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.169C>T	22.37:g.41863526G>A	ENSP00000216252:p.Arg57Cys					PHF5A_ENST00000491254.1_5'UTR	p.R57C	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	240	-			57					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.169C>T	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704285	0.88924	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	M	0.89658	3.05	0.80722	D	1	B	0.27229	0.172	B	0.31245	0.126	T	0.79035	-0.1968	9	0.51188	T	0.08	-18.9427	19.8379	0.96666	0.0:0.0:1.0:0.0	.	57	Q7RTV0	PHF5A_HUMAN	C	57	.	ENSP00000216252:R57C	R	-	1	0	PHF5A	40193472	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.547000	0.98100	2.765000	0.95021	0.655000	0.94253	CGC		0.507	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		28	50	0	0	0	1	0	28	50					A	41863526	G	A	41863526	3	1	492	1	0	0	0	0	1	0	0	0	11837	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		41863526	9441040	44	39772											
SMC1A	8243	broad.mit.edu	37	chrX	53440219	53440219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttccttgcgttcagccGcaatatttttcttgcgatgg	9	10	2	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:53440219G>A	ENST00000322213.4	-	4	705	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	193					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						GCGTTCAGCCGCAATATTTTT	0.512																																						ENST00000322213.4																			0				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						c.(577-579)gCg>gTg		structural maintenance of chromosomes 1A							218	191	200					X																	53440219		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53440219G>A	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.578C>T	X.37:g.53440219G>A	ENSP00000323421:p.Ala193Val					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.A193V	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			4	705	-			193					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.578C>T	CCDS14352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.47|18.47	3.630260|3.630260	0.67015|0.67015	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000322213;ENST00000340213|ENST00000428014	T|.	0.76968|.	-1.06|.	4.52|4.52	4.52|4.52	0.55395|0.55395	RecF/RecN/SMC (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57710|0.57710	0.2072|0.2072	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.971;0.973;0.995|.	P;P;P|.	0.53722|.	0.459;0.63;0.733|.	T|T	0.55366|0.55366	-0.8152|-0.8152	10|5	0.52906|.	T|.	0.07|.	.|.	15.5515|15.5515	0.76155|0.76155	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;193;193|.	Q6MZR8;A8K7A6;Q14683|.	.;.;SMC1A_HUMAN|.	V|W	193;192|198	ENSP00000323421:A193V|.	ENSP00000323421:A193V|.	A|R	-|-	2|1	0|2	SMC1A|SMC1A	53456944|53456944	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.838000|0.838000	0.47535|0.47535	7.857000|7.857000	0.86963|0.86963	1.998000|1.998000	0.58463|0.58463	0.436000|0.436000	0.28706|0.28706	GCG|CGG		0.512	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	102	0	0	0	1	0	4	102					A	53440219	G	A	53440219	3	1	492	1	0	0	0	0	1	0	0	0	14781	1087	38	1	3211	1	SMC1A	23	53440219	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		53440219	101830341	45	39773											
BGN	633	broad.mit.edu	37	chrX	152770284	152770284	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacagcgccatgtgtcctttCggctgccactgccacctgcg	10	16	0	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:152770284C>T	ENST00000331595.4	+	2	381	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BGN_ENST00000480756.1_Intron	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	65	Cys-rich.				blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|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)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTCCTTTCGGCTGCCACT	0.637																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(193-195)ttC>ttT		biglycan							67	63	65					X																	152770284		2203	4299	6502	SO:0001819	synonymous_variant	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770284C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1044	protein-coding gene	gene with protein product	"biglycan proteoglycan"	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.195C>T	X.37:g.152770284C>T						BGN_ENST00000480756.1_Intron|BGN_ENST00000370204.1_Silent_p.F4F	p.F65F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			2	381	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		65			Cys-rich.		D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	c.195C>T	CCDS14721.1																																																																																				0.637	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		76	4	0	0	0	1	0	76	4					T	152770284	C	T	152770284	2	4	492	1	0	0	0	0	0	0	0	1	1418	883	31	1		1	BGN	23	152770284	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	99330065	152770284	2500276	46	39774											
CDA	978	broad.mit.edu	37	chr1	20940378	20940378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgtggggcctgcaggCaagtcatgagagaggtaagc	15	9	1	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:20940378C>A	ENST00000375071.3	+	3	492	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	CDA_ENST00000461985.1_Intron	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	104	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|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;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCTGCAGGCAAGTCATGAG	0.498																																					Pancreas(74;49 1356 2772 27818 40529)	ENST00000375071.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(310-312)Caa>Aaa		cytidine deaminase	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						113	98	103					1																	20940378		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20940378C>A	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.310C>A	1.37:g.20940378C>A	ENSP00000364212:p.Gln104Lys					CDA_ENST00000461985.1_Intron	p.Q104K	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	3	492	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	104						Missense_Mutation	SNP	ENST00000375071.3	37	c.310C>A	CCDS210.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677828	0.88445	.	.	ENSG00000158825	ENST00000375071	T	0.52983	0.64	5.38	5.38	0.77491	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90497	0.4471	10	0.87932	D	0	.	14.6118	0.68522	0.0:1.0:0.0:0.0	.	104	P32320	CDD_HUMAN	K	104	ENSP00000364212:Q104K	ENSP00000364212:Q104K	Q	+	1	0	CDA	20812965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.417000	0.73337	2.523000	0.85059	0.491000	0.48974	CAA		0.498	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785		4	94	1	0	1	1	1	4	94					A	20940378	C	A	20940378	3	1	493	1	0	0	0	0	1	0	0	0	3052	711	25	4	320	4	CDA	1	20940378	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		20940378	228310243	1	39775											
LCK	3932	broad.mit.edu	37	chr1	32740031	32740031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcccactggatggcaaggGcacggtaagaggcgagacag	16	9	0	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:32740031G>A	ENST00000336890.5	+	2	239	c.101G>A	c.(100-102)gGc>gAc	p.G34D	LCK_ENST00000373564.3_Missense_Mutation_p.G34D|LCK_ENST00000333070.4_Missense_Mutation_p.G34D	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	34	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GATGGCAAGGGCACGGTAAGA	0.532			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(100-102)gGc>gAc		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						82	71	75					1																	32740031		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740031G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.101G>A	1.37:g.32740031G>A	ENSP00000337825:p.Gly34Asp					LCK_ENST00000373564.3_Missense_Mutation_p.G34D|LCK_ENST00000336890.5_Missense_Mutation_p.G34D	p.G34D	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			2	201	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	34			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.101G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	13.12	2.143745	0.37825	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	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	4.88	-2.84	0.05751	.	2.122780	0.01851	N	0.035905	T	0.28300	0.0699	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.0	T	0.22661	-1.0210	10	0.20046	T	0.44	.	13.7016	0.62613	0.0:0.289:0.6338:0.0772	.	78;34;34;34	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	D	34;34;34;34;34;78;78;34;78;34	ENSP00000337825:G34D;ENSP00000431517:G34D;ENSP00000435605:G34D;ENSP00000434525:G34D;ENSP00000362663:G34D;ENSP00000436554:G78D;ENSP00000362658:G78D;ENSP00000328213:G34D;ENSP00000362665:G34D	ENSP00000328213:G34D	G	+	2	0	LCK	32512618	0.006000	0.16342	0.033000	0.17914	0.894000	0.52154	-0.351000	0.07711	-0.327000	0.08551	-0.443000	0.05667	GGC		0.532	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		20	44	0	0	0	1	0	20	44					A	32740031	G	A	32740031	3	1	493	1	0	0	0	0	1	0	0	0	8676	1203	42	2	103	2	LCK	1	32740031	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	11799653	32740031	216510590	2	39776											
DYRK3	8444	broad.mit.edu	37	chr1	206821946	206821946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtgcttgtggggggtcGctcacgtaggggtaaaaagc	18	6	1	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:206821946G>A	ENST00000367109.2	+	3	1571	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	DYRK3_ENST00000367106.1_Missense_Mutation_p.R448H|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.R448H	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	468	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTGGGGGGTCGCTCACGTAGG	0.522																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1342-1344)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							104	118	113					1																	206821946		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821946G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1403G>A	1.37:g.206821946G>A	ENSP00000356076:p.Arg468His					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.R468H|DYRK3_ENST00000367108.3_Missense_Mutation_p.R448H	p.R448H			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1816	+	Breast(84;0.183)		468			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1343G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431732	0.83776	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.21734	1.99;1.99;1.99	5.31	5.31	0.75309	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	0.40694	0.1127	L	0.46670	1.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.931	T	0.06899	-1.0801	10	0.56958	D	0.05	.	18.1352	0.89617	0.0:0.0:1.0:0.0	.	468;448	O43781;O43781-2	DYRK3_HUMAN;.	H	468;448;448	ENSP00000356076:R468H;ENSP00000356075:R448H;ENSP00000356073:R448H	ENSP00000356073:R448H	R	+	2	0	DYRK3	204888569	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.765000	0.95021	0.555000	0.69702	CGC		0.522	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		6	243	0	0	0	1	0	6	243					A	206821946	G	A	206821946	3	1	493	1	0	0	0	0	1	0	0	0	4857	1087	38	1	1434	1	DYRK3	1	206821946	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	174081915	206821946	42428675	3	39777											
HEATR5B	54497	broad.mit.edu	37	chr2	37229591	37229591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactgagatgtggcatatgCcgtactaaaatgaacatcag	10	7	1	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725						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)				GTGGCATATGCCGTACTAAAA	0.478																																						ENST00000233099.5																			0				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						c.(5173-5175)cgG>cgA		HEAT repeat containing 5B							175	155	161					2																	37229591		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37229591C>T	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.5175G>A	2.37:g.37229591C>T						HEATR5B_ENST00000354531.2_Intron	p.R1725R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			32	5270	-		all_hematologic(82;0.21)	1725					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5175G>A	CCDS33181.1																																																																																				0.478	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		4	112	0	0	0	1	0	4	112					T	37229591	C	T	37229591	2	4	493	1	0	0	0	0	0	0	0	1	7032	726	26	2		2	HEATR5B	2	37229591	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		37229591	205969782	4	39778											
EFEMP1	2202	broad.mit.edu	37	chr2	56103869	56103869	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgattgctggcatcacattCatttatatctgaaaaaaagt	6	6	3	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:56103869C>T	ENST00000394555.2	-	7	1204	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K|EFEMP1_ENST00000424836.2_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	257	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATCACATTCATTTATATCT	0.308																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(769-771)Gaa>Aaa		EGF containing fibulin-like extracellular matrix protein 1							75	68	70					2																	56103869		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56103869C>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.769G>A	2.37:g.56103869C>T	ENSP00000378058:p.Glu257Lys					EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K	p.E257K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		7	1204	-			257			EGF-like 4; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.769G>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893259	0.72524	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000355426	D;D;D	0.88431	-2.38;-2.38;-2.38	5.87	4.99	0.66335	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.178294	0.39407	N	0.001372	D	0.96430	0.8835	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97832	1.0263	10	0.87932	D	0	.	17.0641	0.86555	0.0:0.873:0.127:0.0	.	257	Q12805	FBLN3_HUMAN	K	257;257;113;257	ENSP00000378058:E257K;ENSP00000378057:E257K;ENSP00000347596:E257K	ENSP00000347596:E257K	E	-	1	0	EFEMP1	55957373	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.818000	0.86416	1.461000	0.47929	-0.182000	0.12963	GAA		0.308	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			33	53	0	0	0	1	0	33	53					T	56103869	C	T	56103869	3	4	493	1	0	0	0	0	1	0	0	0	4941	835	29	2	732	2	EFEMP1	2	56103869	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	18874278	56103869	187095504	5	39779											
SLC1A4	6509	broad.mit.edu	37	chr2	65245298	65245298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctccccatcggggccacCgtgaacatggacggagcagc	12	14	1	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:65245298C>T	ENST00000234256.3	+	6	1371	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	SLC1A4_ENST00000531327.1_Silent_p.T78T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	376					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCGGGGCCACCGTGAACATGG	0.517																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1126-1128)acC>acT		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						131	122	125					2																	65245298		2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245298C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1128C>T	2.37:g.65245298C>T						SLC1A4_ENST00000531327.1_Silent_p.T78T	p.T376T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			6	1371	+			376					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.1128C>T	CCDS1879.1																																																																																				0.517	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		39	42	0	0	0	1	0	39	42					T	65245298	C	T	65245298	2	4	493	1	0	0	0	0	0	0	0	1	14434	639	23	1		1	SLC1A4	2	65245298	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	9141429	65245298	177954075	6	39780											
REEP1	65055	broad.mit.edu	37	chr2	86509292	86509292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacacagtgctacttaCatattccttaatgtcctttg	4	9	0	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:86509292C>T	ENST00000165698.5	-	2	249		c.e2+1		REEP1_ENST00000538924.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000541910.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site|REEP1_ENST00000540790.1_Splice_Site	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTGCTACTTACATATTCCTTA	0.463																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.e2+1		receptor accessory protein 1							213	201	205					2																	86509292		2203	4300	6503	SO:0001630	splice_region_variant	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86509292C>T	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"Receptor accessory proteins"	25786	protein-coding gene	gene with protein product	"receptor expression enhancing protein 1"	609139	"chromosome 2 open reading frame 23"	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.105+1G>A	2.37:g.86509292C>T						REEP1_ENST00000541910.1_Splice_Site|REEP1_ENST00000538924.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000540790.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site		NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			2	249	-								B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Splice_Site	SNP	ENST00000165698.5	37		CCDS1989.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419485	0.62622	.	.	ENSG00000068615	ENST00000165698;ENST00000541910;ENST00000538924;ENST00000437769;ENST00000453231	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8492	0.78912	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	REEP1	86362803	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.880000	0.69698	2.263000	0.75096	0.549000	0.68633	.		0.463	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912	Intron	86	169	0	0	0	1	0	86	169					T	86509292	C	T	86509292	5	4	493	1	0	0	0	0	0	0	1	0	13204	492	17	2	584	2	REEP1	2	86509292	Splice_Site	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	21263994	86509292	156690081	7	39781											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924248	105924248	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccgtccacagccacagcgaGgggctgctcggcagtcgaca	14	15	0	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:105924248G>C	ENST00000393359.2	-	2	937	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	171	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCACAGCGAGGGGCTGCTCG	0.557																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(511-513)Ctc>Gtc		transforming growth factor, beta receptor associated protein 1							119	119	119					2																	105924248		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924248G>C	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.511C>G	2.37:g.105924248G>C	ENSP00000377027:p.Leu171Val					TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V	p.L171V			Q8WUH2	TGFA1_HUMAN			2	937	-			171			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.511C>G	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	4.431	0.079691	0.08533	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04758	3.56;3.56	5.32	3.28	0.37604	Citron-like (2);	0.231473	0.44285	N	0.000463	T	0.02230	0.0069	N	0.11560	0.145	0.32097	N	0.591051	B	0.09022	0.002	B	0.20384	0.029	T	0.33163	-0.9879	10	0.16420	T	0.52	-10.6698	2.2192	0.03968	0.3909:0.3106:0.2985:0.0	.	171	Q8WUH2	TGFA1_HUMAN	V	171	ENSP00000377027:L171V;ENSP00000258449:L171V	ENSP00000258449:L171V	L	-	1	0	TGFBRAP1	105290680	1.000000	0.71417	0.348000	0.25681	0.853000	0.48598	3.881000	0.56152	0.684000	0.31448	0.655000	0.94253	CTC		0.557	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		45	100	0	0	0	1	0	45	100					C	105924248	G	C	105924248	3	2	493	1	0	0	0	0	1	0	0	0	15821	1000	35	4	2115	4	TGFBRAP1	2	105924248	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	19414956	105924248	137275125	8	39782											
SLC35F5	80255	broad.mit.edu	37	chr2	114513952	114513953	+	Frame_Shift_Ins	INS	-	-	A													ccctgcctgcctacctggccINSttcctgccccgcgatggcgt							TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:114513952_114513953insA	ENST00000245680.2	-	1	447_448	c.34_35insT	c.(34-36)aggfs	p.R12fs	SLC35F5_ENST00000409342.1_De_novo_Start_InFrame	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	12					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CCTACCTGGCCTTCCTGCCCCG	0.733																																						ENST00000409342.1																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20								solute carrier family 35, member F5																																				SO:0001589	frameshift_variant	80255				transport	integral to membrane		g.chr2:114513952_114513953insA	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.34_35insT	2.37:g.114513952_114513953insA	ENSP00000245680:p.Arg12fs					SLC35F5_ENST00000245680.2_Frame_Shift_Ins_p.A12fs				Q8WV83	S35F5_HUMAN			0	244_245	-								Q9H6P8|Q9H7D8	Translation_Start_Site	INS	ENST00000245680.2	37		CCDS2119.1																																																																																				0.733	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		2	4						2	4	---	---	---	---	A	114513953	-	A	114513952	7	5	493	1	0	1	1	0	0	0	0	0	14592	681	24	0	1596	0	SLC35F5	2	114513952	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RV-01A-21D-A34A-08	8589704	114513952	128685421	9	39783											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	52	0	0	0	1	0	36	52					T	209113112	C	T	209113112	3	4	493	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	94599160	209113112	34086261	10	39784											
KIAA1486	57624	broad.mit.edu	37	chr2	226516154	226516157	+	Frame_Shift_Del	DEL	AAGT	AAGT	-													ccgcttgtttccagagcctaAagtaagctgcaaattaggcc					rs151101366		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:226516154_226516157delAAGT	ENST00000272907.6	+	6	2248_2251	c.1835_1838delAAGT	c.(1834-1839)aaagtafs	p.KV612fs		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	612					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCAGAGCCTAAAGTAAGCTGCAAA	0.475																																						ENST00000272907.6																			0											c.(1834-1839)aafs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226516154_226516157delAAGT	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.1835_1838delAAGT	2.37:g.226516154_226516157delAAGT	ENSP00000272907:p.Lys612fs						p.KV612fs	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			6	2248_2251	+			612					A2RRN4|Q96NL2	Frame_Shift_Del	DEL	ENST00000272907.6	37	c.1835_1838delAAGT	CCDS46529.1																																																																																				0.475	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		9	191						9	191	---	---	---	---	-	226516157	AAGT	-	226516154	7	5	493	1	0	1	0	1	0	0	0	0	8237	14	1	0	1853	0	KIAA1486	2	226516154	Frame_Shift_Del	DEL	AAGT	TCGA-TQ-A7RV-01A-21D-A34A-08	17403042	226516154	16683219	11	39785											
ZBTB20	26137	broad.mit.edu	37	chr3	114070470	114070478	+	In_Frame_Del	DEL	TGCACTGAC	TGCACTGAC	-													acatgaagtcaatgagctttTgcactgactgcactgacacc							TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr3:114070470_114070478delTGCACTGAC	ENST00000474710.1	-	4	625_633	c.447_455delGTCAGTGCA	c.(445-456)cagtcagtgcaa>caa	p.149_152QSVQ>Q	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000464560.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000481632.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000393785.2_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000462705.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000471418.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	149	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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)	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AATGAGCTTTTGCACTGACTGCACTGACA	0.598																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Substitution - Missense(1)	p.V78G(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(226-237)caa>ca		zinc finger and BTB domain containing 20																																				SO:0001651	inframe_deletion	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070470_114070478delTGCACTGAC	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.447_455delGTCAGTGCA	3.37:g.114070479_114070487delTGCACTGAC	ENSP00000419153:p.Gln149_Val151del					ZBTB20_ENST00000464560.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.QSVQ149del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.QSVQ76del	p.QSVQ76del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1049_1057	-			149					Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	c.228_236delGTCAGTGCA	CCDS54626.1																																																																																				0.598	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		9	55						9	55	---	---	---	---	-	114070478	TGCACTGAC	-	114070470	7	5	493	1	0	1	0	1	0	0	0	0	17526	1812	63	0	1778	0	ZBTB20	3	114070470	In_Frame_Del	DEL	TGCACTGAC	TCGA-TQ-A7RV-01A-21D-A34A-08		114070470	83951960	12	39786											
FAM114A1	92689	broad.mit.edu	37	chr4	38907402	38907402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagccacagatcagggcCctgcagaaagcccacccact	9	16	1	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr4:38907402C>T	ENST00000358869.2	+	6	753	c.577C>T	c.(577-579)Cct>Tct	p.P193S	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	193						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGATCAGGGCCCTGCAGAAAG	0.488																																						ENST00000358869.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(577-579)Cct>Tct		family with sequence similarity 114, member A1							55	52	53					4																	38907402		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38907402C>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.577C>T	4.37:g.38907402C>T	ENSP00000351740:p.Pro193Ser					FAM114A1_ENST00000515037.1_5'UTR	p.P193S	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN			6	753	+			193					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.577C>T	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	5.719	0.317239	0.10845	.	.	ENSG00000197712	ENST00000358869	T	0.37752	1.18	5.38	3.55	0.40652	.	0.428649	0.25801	N	0.028201	T	0.20536	0.0494	N	0.19112	0.55	0.36227	D	0.852367	B	0.15930	0.015	B	0.17098	0.017	T	0.12091	-1.0561	10	0.32370	T	0.25	-14.1312	6.0843	0.19958	0.1544:0.6749:0.0:0.1707	.	193	Q8IWE2	NXP20_HUMAN	S	193	ENSP00000351740:P193S	ENSP00000351740:P193S	P	+	1	0	FAM114A1	38583797	0.058000	0.20735	0.952000	0.39060	0.580000	0.36256	0.086000	0.14935	1.421000	0.47157	-0.137000	0.14449	CCT		0.488	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		6	95	0	0	0	1	0	6	95					T	38907402	C	T	38907402	3	4	493	1	0	0	0	0	1	0	0	0	5403	623	22	2	591	2	FAM114A1	4	38907402	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		38907402	152246874	13	39787											
LMBRD2	92255	broad.mit.edu	37	chr5	36141229	36141229	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgttaaaaattgtgacgtCcaatacactaccctccagaa	5	11	0	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:36141229C>T	ENST00000296603.4	-	4	810	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	116						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGTGACGTCCAATACACTA	0.313																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(346-348)tgG>tgA		LMBR1 domain containing 2							88	83	84					5																	36141229		2203	4300	6503	SO:0001587	stop_gained	92255					integral to membrane		g.chr5:36141229C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.348G>A	5.37:g.36141229C>T	ENSP00000296603:p.Trp116*						p.W116*	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	810	-	all_lung(31;0.000146)		116					B3KRB6|Q9NTC7	Nonsense_Mutation	SNP	ENST00000296603.4	37	c.348G>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	40	8.156076	0.98680	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5355	19.5301	0.95225	0.0:1.0:0.0:0.0	.	.	.	.	X	116;10	.	ENSP00000296603:W116X	W	-	3	0	LMBRD2	36176986	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.420000	0.80191	2.598000	0.87819	0.650000	0.86243	TGG		0.313	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		6	103	0	0	0	1	0	6	103					T	36141229	C	T	36141229	4	4	493	1	0	0	0	0	0	1	0	0	8843	856	30	2	1799	2	LMBRD2	5	36141229	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		36141229	144774031	14	39788											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308830	140308830	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccgacctgcgaaatcttgccActggggtaggactgaatttg	12	10	1	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140308830A>T	ENST00000253807.2	+	1	2353	c.2353A>T	c.(2353-2355)Act>Tct	p.T785S	PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	785					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)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCTTGCCACTGGGGTAGG	0.453																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2353-2355)Act>Tct									121	113	116					5																	140308830		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308830A>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2353A>T	5.37:g.140308830A>T	ENSP00000253807:p.Thr785Ser					PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S	p.T785S	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2353	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2353A>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	A	3.821	-0.037818	0.07497	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.49720	0.79;0.77	5.83	-3.48	0.04739	.	.	.	.	.	T	0.22003	0.0530	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26744	-1.0094	9	0.09338	T	0.73	.	1.3504	0.02171	0.4346:0.1118:0.1236:0.3301	.	785;785	Q9H158;Q9H158-2	PCDC1_HUMAN;.	S	785	ENSP00000386356:T785S;ENSP00000253807:T785S	ENSP00000253807:T785S	T	+	1	0	PCDHAC1	140289014	0.000000	0.05858	0.672000	0.29872	0.934000	0.57294	0.422000	0.21296	-0.432000	0.07297	0.460000	0.39030	ACT		0.453	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		7	141	0	0	0	1	0	7	141					T	140308830	A	T	140308830	3	4	493	1	0	0	0	0	1	0	0	0	11532	159	6	5	2355	5	PCDHAC1	5	140308830	Missense_Mutation	SNP	A	TCGA-TQ-A7RV-01A-21D-A34A-08	104167601	140308830	40606430	15	39789											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810561	140810561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagcttttcgccctgaatCcgcgcagcggcagcttggtc	12	15	0	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140810561C>T	ENST00000252085.3	+	1	377	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	79	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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGAATCCGCGCAGCGG	0.627																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(235-237)Ccg>Tcg									56	69	65					5																	140810561		2200	4300	6500	SO:0001583	missense	0							g.chr5:140810561C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.235C>T	5.37:g.140810561C>T	ENSP00000252085:p.Pro79Ser					PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	p.P79S	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	377	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.235C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	0.291	-0.979808	0.02197	.	.	ENSG00000253159	ENST00000252085	T	0.15487	2.42	5.55	0.287	0.15714	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13841	0.0335	L	0.60455	1.87	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.22152	0.008;0.038	T	0.39354	-0.9618	9	0.19147	T	0.46	.	2.6366	0.04959	0.1023:0.2458:0.3976:0.2543	.	79;79	O60330-2;O60330	.;PCDGC_HUMAN	S	79	ENSP00000252085:P79S	ENSP00000252085:P79S	P	+	1	0	PCDHGA12	140790745	0.000000	0.05858	0.893000	0.35052	0.068000	0.16541	-1.155000	0.03163	0.023000	0.15187	-0.324000	0.08512	CCG		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		16	157	0	0	0	1	0	16	157					T	140810561	C	T	140810561	3	4	493	1	0	0	0	0	1	0	0	0	11553	855	30	2	237	2	PCDHGA12	5	140810561	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	501731	140810561	40104699	16	39790											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	11	14	0	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	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.Q73Q(1)		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)		agcagcaacagcaacagcagc	0.562																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q73Q(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(217-219)caG>caA		TATA box binding protein							17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871043G>A	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.219G>A	6.37:g.170871043G>A						TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	498	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	73			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.219G>A	CCDS5315.1																																																																																				0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	51	0	0	0	1	0	4	51					A	170871043	G	A	170871043	2	1	493	1	0	0	0	0	0	0	0	1	15641	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		170871043	244024	17	39791											
TNPO3	23534	broad.mit.edu	37	chr7	128655167	128655169	+	In_Frame_Del	DEL	AAG	AAG	-													gatctccagcaaaaaaggcaAagaagtcacatcattgctgt							TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:128655167_128655169delAAG	ENST00000265388.5	-	4	559_561	c.416_418delCTT	c.(415-420)tctttg>ttg	p.S139del	TNPO3_ENST00000471234.1_In_Frame_Del_p.S139del|TNPO3_ENST00000471166.1_In_Frame_Del_p.S139del|TNPO3_ENST00000393245.1_In_Frame_Del_p.S139del|TNPO3_ENST00000482320.1_In_Frame_Del_p.S73del			Q9Y5L0	TNPO3_HUMAN	transportin 3	139					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						AAAAAAGGCAAAGAAGTCACATC	0.365																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(415-420)ttg>t		transportin 3																																				SO:0001651	inframe_deletion	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128655167_128655169delAAG	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.416_418delCTT	7.37:g.128655170_128655172delAAG	ENSP00000265388:p.Ser139del					TNPO3_ENST00000482320.1_In_Frame_Del_p.SL73del|TNPO3_ENST00000265388.5_In_Frame_Del_p.SL139del|TNPO3_ENST00000471166.1_In_Frame_Del_p.SL139del|TNPO3_ENST00000471234.1_In_Frame_Del_p.SL139del	p.SL139del	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			4	789_791	-			139					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	In_Frame_Del	DEL	ENST00000265388.5	37	c.416_418delCTT	CCDS5809.1																																																																																				0.365	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		8	71						8	71	---	---	---	---	-	128655169	AAG	-	128655167	7	5	493	1	0	1	0	1	0	0	0	0	16334	11	1	0	2429	0	TNPO3	7	128655167	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RV-01A-21D-A34A-08		128655167	30483496	18	39792											
ADAM28	10863	broad.mit.edu	37	chr8	24167482	24167485	+	Splice_Site	DEL	AAGT	AAGT	-													tgctttatttgaaaaaaaacAagtaagtatctttacctgtg					rs370039701		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:24167482_24167485delAAGT	ENST00000265769.4	+	3	336_337	c.226_227delAAGT	c.(226-228)aag>g	p.K76fs	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Splice_Site_p.K76fs|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	76					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAAAAAAACAAGTAAGTATCTTT	0.348																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.e3+1		ADAM metallopeptidase domain 28			,	5,4251		0,5,2123					,	3.6	0.9			49	0,8248		0,0,4124	no	frameshift-near-splice,frameshift-near-splice	ADAM28	NM_021777.3,NM_014265.4	,	0,5,6247	A1A1,A1R,RR		0.0,0.1175,0.04	,	,		5,12499				SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167482_24167485delAAGT	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.227+1AAGT>-	8.37:g.24167486_24167489delAAGT						ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.76_splice|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	p.76_splice	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	3	336_337	+		Prostate(55;0.0959)	76					B2RMV5|Q9Y339|Q9Y3S0	Splice_Site	DEL	ENST00000265769.4	37	c.227_splice	CCDS34865.1																																																																																				0.348	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Frame_Shift_Del	8	146						8	146	---	---	---	---	-	24167485	AAGT	-	24167482	8	5	493	1	0	1	0	1	0	0	1	0	246	144	5	0	236	0	ADAM28	8	24167482	Splice_Site	DEL	AAGT	TCGA-TQ-A7RV-01A-21D-A34A-08		24167482	122196540	19	39793											
TEX15	56154	broad.mit.edu	37	chr8	30701411	30701411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttcaccttctaagtgcCtttttttgttttcaatgaat	6	7	3	1	rs549924526		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:30701411C>T	ENST00000256246.2	-	1	5197	c.5123G>A	c.(5122-5124)aGg>aAg	p.R1708K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1708					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)		TTCTAAGTGCCTTTTTTTGTT	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20486	0.0		0.0	False		,,,				2504	0.0					ENST00000256246.2																			0				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						c.(5122-5124)aGg>aAg		testis expressed 15							132	127	129					8																	30701411		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30701411C>T	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.5123G>A	8.37:g.30701411C>T	ENSP00000256246:p.Arg1708Lys						p.R1708K	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5197	-			1708						Missense_Mutation	SNP	ENST00000256246.2	37	c.5123G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279983	0.59758	.	.	ENSG00000133863	ENST00000256246	T	0.10960	2.82	5.6	5.6	0.85130	.	0.191575	0.36972	N	0.002302	T	0.24890	0.0604	L	0.59436	1.845	0.19300	N	0.999971	D	0.63880	0.993	P	0.60789	0.879	T	0.05683	-1.0870	10	0.87932	D	0	.	11.8134	0.52195	0.0:0.9185:0.0:0.0815	.	1708	Q9BXT5	TEX15_HUMAN	K	1708	ENSP00000256246:R1708K	ENSP00000256246:R1708K	R	-	2	0	TEX15	30820953	0.998000	0.40836	0.930000	0.37139	0.975000	0.68041	2.747000	0.47475	2.622000	0.88805	0.655000	0.94253	AGG		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			8	117	0	0	0	1	0	8	117					T	30701411	C	T	30701411	3	4	493	1	0	0	0	0	1	0	0	0	15776	681	24	2	3262	2	TEX15	8	30701411	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	6533929	30701411	115662611	20	39794											
CHRNA6	8973	broad.mit.edu	37	chr8	42612159	42612159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattccattggatcccagcGcaatttataatcattccaga	5	10	1	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:42612159G>A	ENST00000276410.2	-	4	641	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	96					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)	GGATCCCAGCGCAATTTATAA	0.403																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(286-288)Cgc>Tgc		cholinergic receptor, nicotinic, alpha 6 (neuronal)							70	72	72					8																	42612159		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42612159G>A	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.286C>T	8.37:g.42612159G>A	ENSP00000276410:p.Arg96Cys					CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C|CHRNA6_ENST00000530869.1_5'UTR	p.R96C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	641	-	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)	96					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.286C>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734675	0.30774	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	T;T;T	0.80033	-1.33;-1.33;-1.33	5.64	2.76	0.32466	Neurotransmitter-gated ion-channel ligand-binding (3);	0.212473	0.47852	N	0.000209	T	0.80984	0.4729	M	0.86740	2.835	0.44719	D	0.997718	B;B	0.24483	0.104;0.025	B;B	0.28849	0.095;0.095	T	0.75563	-0.3274	10	0.62326	D	0.03	.	6.7639	0.23556	0.1434:0.0:0.6069:0.2497	.	81;96	B4DQH1;Q15825	.;ACHA6_HUMAN	C	96;81;17	ENSP00000276410:R96C;ENSP00000433871:R81C;ENSP00000434659:R17C	ENSP00000276410:R96C	R	-	1	0	CHRNA6	42731316	0.000000	0.05858	0.953000	0.39169	0.791000	0.44710	0.029000	0.13666	0.266000	0.21894	0.655000	0.94253	CGC		0.403	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			5	85	0	0	0	1	0	5	85					A	42612159	G	A	42612159	3	1	493	1	0	0	0	0	1	0	0	0	3387	1087	38	1	1210	1	CHRNA6	8	42612159	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	11910748	42612159	103751863	21	39795											
SCRIB	23513	broad.mit.edu	37	chr8	144895057	144895057	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgagcagcaccagcccgccGagctcagcaggcagctcctc	12	17	1	1	rs201346981		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:144895057G>T	ENST00000320476.3	-	8	723	c.717C>A	c.(715-717)ctC>ctA	p.L239L	SCRIB_ENST00000356994.2_Silent_p.L239L|SCRIB_ENST00000377533.3_Silent_p.L158L|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	239	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGCCCGCCGAGCTCAGCAG	0.687																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(715-717)ctC>ctA		scribbled planar cell polarity protein							34	34	34					8																	144895057		2202	4299	6501	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895057G>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.717C>A	8.37:g.144895057G>T						SCRIB_ENST00000320476.3_Silent_p.L239L|SCRIB_ENST00000377533.3_Silent_p.L158L	p.L239L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		8	723	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		239			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.717C>A	CCDS6411.1																																																																																				0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	46	1	0	1.23904e-05	1	1.29291e-05	5	46					T	144895057	G	T	144895057	2	4	493	1	0	0	0	0	0	0	0	1	13937	1045	37	4		4	SCRIB	8	144895057	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	102282898	144895057	1468965	22	39796											
MCM10	55388	broad.mit.edu	37	chr10	13222503	13222503	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggccgaaaactgatcagaCtgtctcagatcaaggaaaag	10	10	3	3			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:13222503C>G	ENST00000484800.2	+	7	932	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	MCM10_ENST00000378694.1_Missense_Mutation_p.L276V|MCM10_ENST00000378714.3_Missense_Mutation_p.L276V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	277	OB-fold domain. {ECO:0000250}.				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						ACTGATCAGACTGTCTCAGAT	0.433																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(826-828)Ctg>Gtg		minichromosome maintenance complex component 10							127	124	125					10																	13222503		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13222503C>G	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.829C>G	10.37:g.13222503C>G	ENSP00000418268:p.Leu277Val					MCM10_ENST00000378714.3_Missense_Mutation_p.L276V|MCM10_ENST00000484800.2_Missense_Mutation_p.L277V	p.L276V			Q7L590	MCM10_HUMAN			6	901	+			277					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.826C>G	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527705	0.64860	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.25085	1.83;1.83;1.82	5.82	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.83953	2.67	0.58432	D	0.999993	D;B;B	0.55605	0.972;0.398;0.277	P;P;B	0.54372	0.75;0.502;0.306	T	0.23511	-1.0186	10	0.37606	T	0.19	-9.7473	8.977	0.35941	0.0:0.7217:0.0:0.2783	.	276;276;277	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	V	276;277;277;276	ENSP00000367986:L276V;ENSP00000418268:L277V;ENSP00000367966:L276V	ENSP00000354945:L277V	L	+	1	2	MCM10	13262509	0.526000	0.26298	0.999000	0.59377	0.992000	0.81027	0.356000	0.20181	0.397000	0.25310	-0.140000	0.14226	CTG		0.433	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		30	105	0	0	0	1	0	30	105					G	13222503	C	G	13222503	3	3	493	1	0	0	0	0	1	0	0	0	9385	564	20	4	851	4	MCM10	10	13222503	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		13222503	122312244	23	39797											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0	rs185815738	byFrequency	TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000309035.6_Silent_p.G813G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	172	0	0	0	1	0	4	172					A	126682516	G	A	126682516	2	1	493	1	0	0	0	0	0	0	0	1	3998	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	113460013	126682516	8852231	24	39798											
CCDC73	493860	broad.mit.edu	37	chr11	32697529	32697529	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactcagttgcttatgataGtcttctttagccagaagatg	8	8	4	3			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr11:32697529G>T	ENST00000335185.5	-	8	511	c.468C>A	c.(466-468)gaC>gaA	p.D156E	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	156										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)					GCTTATGATAGTCTTCTTTAG	0.323																																						ENST00000335185.5																			0				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						c.(466-468)gaC>gaA		coiled-coil domain containing 73							157	148	151					11																	32697529		1848	4074	5922	SO:0001583	missense	493860							g.chr11:32697529G>T	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.468C>A	11.37:g.32697529G>T	ENSP00000335325:p.Asp156Glu					CCDC73_ENST00000534415.1_5'UTR	p.D156E	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			8	511	-	Breast(20;0.112)		156					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.468C>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302722	0.40795	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	4.77	0.60923	.	.	.	.	.	T	0.51092	0.1654	L	0.43152	1.355	0.80722	D	1	P;D	0.61080	0.946;0.989	P;P	0.56648	0.803;0.803	T	0.50004	-0.8878	8	0.13470	T	0.59	.	6.0669	0.19868	0.6992:0.1495:0.1513:0.0	.	156;156	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	E	156	.	ENSP00000335325:D156E	D	-	3	2	CCDC73	32654105	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.136000	0.31467	1.062000	0.40625	-0.482000	0.04802	GAC		0.323	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		5	194	1	0	0.00116845	1	0.00119331	5	194					T	32697529	G	T	32697529	3	4	493	1	0	0	0	0	1	0	0	0	2846	1020	36	4	2815	4	CCDC73	11	32697529	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		32697529	102308987	25	39799											
ABHD4	63874	broad.mit.edu	37	chr14	23072942	23072942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggcatctgtcctaggaCgttccaatccattggctgtt	10	12	1	0	rs545492636		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:23072942C>T	ENST00000428304.2	+	4	668	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	200					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGTCCTAGGACGTTCCAATCC	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15917	0.0		0.0	False		,,,				2504	0.0					ENST00000428304.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(598-600)Cgt>Tgt		abhydrolase domain containing 4							100	94	96					14																	23072942		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23072942C>T	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"Abhydrolase domain containing"	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.598C>T	14.37:g.23072942C>T	ENSP00000414558:p.Arg200Cys					ABHD4_ENST00000544562.1_3'UTR	p.R200C	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	4	668	+	all_cancers(95;5.49e-05)		200					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.598C>T	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423761	0.62733	.	.	ENSG00000100439	ENST00000428304;ENST00000216327	D;D	0.84800	-1.9;-1.9	5.3	5.3	0.74995	.	0.152735	0.64402	D	0.000012	D	0.88381	0.6421	L	0.39898	1.24	0.46096	D	0.998864	D;D	0.69078	0.997;0.996	D;D	0.65773	0.938;0.915	D	0.87225	0.2256	10	0.38643	T	0.18	-2.7168	16.8221	0.85835	0.0:1.0:0.0:0.0	.	200;200	B4DNZ5;Q8TB40	.;ABHD4_HUMAN	C	200;134	ENSP00000414558:R200C;ENSP00000216327:R134C	ENSP00000216327:R134C	R	+	1	0	ABHD4	22142782	0.979000	0.34478	1.000000	0.80357	0.995000	0.86356	3.072000	0.50049	2.644000	0.89710	0.655000	0.94253	CGT		0.567	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			8	104	0	0	0	1	0	8	104					T	23072942	C	T	23072942	3	4	493	1	0	0	0	0	1	0	0	0	84	536	19	1	612	1	ABHD4	14	23072942	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		23072942	84276598	26	39800											
PPL	5493	broad.mit.edu	37	chr16	4944525	4944525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcacaaaacacacggccGgagcaatcagcttgttccca	9	13	2	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:4944525G>A	ENST00000345988.2	-	12	1426	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	PPL_ENST00000590782.2_Missense_Mutation_p.P444L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	446					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACACACGGCCGGAGCAATCAG	0.632																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1336-1338)cCg>cTg		periplakin							119	93	102					16																	4944525		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944525G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1337C>T	16.37:g.4944525G>A	ENSP00000340510:p.Pro446Leu					PPL_ENST00000590782.2_Missense_Mutation_p.P444L	p.P446L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			12	1426	-			446					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1337C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605145	0.66445	.	.	ENSG00000118898	ENST00000345988	D	0.88586	-2.4	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.94578	0.8253	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94898	0.8054	10	0.87932	D	0	.	18.8432	0.92192	0.0:0.0:1.0:0.0	.	446	O60437	PEPL_HUMAN	L	446	ENSP00000340510:P446L	ENSP00000340510:P446L	P	-	2	0	PPL	4884526	1.000000	0.71417	0.951000	0.38953	0.011000	0.07611	9.112000	0.94314	2.687000	0.91594	0.462000	0.41574	CCG		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	73	0	0	0	1	0	4	73					A	4944525	G	A	4944525	3	1	493	1	0	0	0	0	1	0	0	0	12334	1116	39	1	3977	1	PPL	16	4944525	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		4944525	85410228	27	39801											
SULT1A1	6817	broad.mit.edu	37	chr16	28617448	28617448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtagttggtcatagggTtcttcttcatctccttgaac	10	8	5	1	rs35728980	byFrequency	TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:28617448T>G	ENST00000395607.1	-	7	977	c.704A>C	c.(703-705)aAc>aCc	p.N235T	SULT1A1_ENST00000314752.7_Missense_Mutation_p.N235T|SULT1A1_ENST00000569554.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000395609.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.N157T	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	235			N -> T (in dbSNP:rs35728980).		3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGTCATAGGGTTCTTCTTCAT	0.572																																						ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(703-705)aAc>aCc		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							193	139	157					16																	28617448		2197	4300	6497	SO:0001583	missense	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28617448T>G	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.704A>C	16.37:g.28617448T>G	ENSP00000378971:p.Asn235Thr					SULT1A1_ENST00000395607.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.N235T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.N157T|SULT1A1_ENST00000569554.1_Missense_Mutation_p.N235T	p.N235T			P50225	ST1A1_HUMAN			9	1462	-			235		N -> T (in dbSNP:rs35728980).			Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.704A>C	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	t	13.67	2.307133	0.40795	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	T;T;T;T	0.02103	4.45;4.45;4.45;4.45	2.18	2.18	0.27775	Sulfotransferase domain (1);	0.068979	0.64402	D	0.000019	T	0.09423	0.0232	M	0.75777	2.31	0.30880	N	0.731498	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.992;0.997	T	0.00733	-1.1589	10	0.72032	D	0.01	.	8.3065	0.32045	0.0:0.0:0.0:1.0	rs35728980	187;157;235	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	T	235;157;235;235	ENSP00000321988:N235T;ENSP00000329399:N157T;ENSP00000378972:N235T;ENSP00000378971:N235T	ENSP00000321988:N235T	N	-	2	0	SULT1A1	28524949	1.000000	0.71417	0.990000	0.47175	0.146000	0.21551	7.035000	0.76517	1.276000	0.44395	0.254000	0.18369	AAC		0.572	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		6	285	0	0	0	1	0	6	285					G	28617448	T	G	28617448	3	3	493	1	0	0	0	0	1	0	0	0	15371	1725	60	5	191	5	SULT1A1	16	28617448	Missense_Mutation	SNP	T	TCGA-TQ-A7RV-01A-21D-A34A-08	23672923	28617448	61737305	28	39802											
PKD1L2	114780	broad.mit.edu	37	chr16	81142879	81142879	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgtaggaacggagttTccaaccaaatatcaagtttg	10	6	1	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:81142879T>C	ENST00000534142.1	-	0	1393				PKD1L2_ENST00000533478.1_RNA|RNU6-1191P_ENST00000516799.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAACGGAGTTTCCAACCAAAT	0.522																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							46	47	47					16																	81142879		1976	4130	6106			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81142879T>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81142879T>C						PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	7004	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.522	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			6	20	0	0	0	1	0	6	20					C	81142879	T	C	81142879	1	2	493	0	1	0	0	0	0	0	0	0	11965	1792	62	3		3	PKD1L2	16	81142879	RNA	SNP	T	TCGA-TQ-A7RV-01A-21D-A34A-08	52525431	81142879	9211874	29	39803											
ZNF276	92822	broad.mit.edu	37	chr16	89799951	89799951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggccgtgtaccgaggcGctgacggcatgaaggtgagc	17	11	0	3	rs576654600		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:89799951G>A	ENST00000443381.2	+	8	1439	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T	ZNF276_ENST00000289816.5_Missense_Mutation_p.A373T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T|ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACCGAGGCGCTGACGGCAT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17048	0.0		0.0	False		,,,				2504	0.0					ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1117-1119)Gct>Act		zinc finger protein 276							87	79	82					16																	89799951		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799951G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1342G>A	16.37:g.89799951G>A	ENSP00000415836:p.Ala448Thr					ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448T	p.A373T	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	8	1429	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	448					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1117G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547527	0.86022	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.77098	-1.07;-1.07;-1.07	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054816	0.64402	D	0.000001	D	0.83101	0.5181	L	0.28694	0.88	0.46981	D	0.999274	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.99;0.998;0.987;0.977	D	0.83678	0.0170	10	0.54805	T	0.06	-16.2851	19.0103	0.92870	0.0:0.0:1.0:0.0	.	286;448;234;373	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	T	234;373;448	ENSP00000415999:A234T;ENSP00000289816:A373T;ENSP00000415836:A448T	ENSP00000289816:A373T	A	+	1	0	ZNF276	88327452	1.000000	0.71417	0.910000	0.35882	0.719000	0.41307	4.811000	0.62606	2.726000	0.93360	0.655000	0.94253	GCT		0.622	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		24	52	0	0	0	1	0	24	52					A	89799951	G	A	89799951	3	1	493	1	0	0	0	0	1	0	0	0	17808	1087	38	1	1372	1	ZNF276	16	89799951	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	8657072	89799951	554802	30	39804											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	25	0	0	0	1	0	7	25					A	7577121	G	A	7577121	3	1	493	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		7577121	73618089	31	39805											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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)				TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	34	0	0	0	1	0	40	34					A	7577539	G	A	7577539	3	1	493	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	418	7577539	73617671	32	39806											
FAM38B	63895	broad.mit.edu	37	chr18	10681658	10681658	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactatagggatttacttacGgtgtccctagaaaaagcttg	9	7	0	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr18:10681658G>A	ENST00000503781.3	-	47	7439	c.7440C>T	c.(7438-7440)acC>acT	p.T2480T	PIEZO2_ENST00000580640.1_Splice_Site_p.T2505T|PIEZO2_ENST00000538948.1_Splice_Site_p.T437T|PIEZO2_ENST00000285141.4_Splice_Site_p.T272T|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000302079.6_Splice_Site_p.T2417T	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2480					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)	p.T2480T(1)|p.T272T(1)									ATTTACTTACGGTGTCCCTAG	0.413																																						ENST00000302079.6																			2	Substitution - coding silent(2)	p.T2480T(1)|p.T272T(1)	lung(2)								c.e46+1		piezo-type mechanosensitive ion channel component 2							137	137	137					18																	10681658		2203	4300	6503	SO:0001630	splice_region_variant	63895					integral to membrane	ion channel activity	g.chr18:10681658G>A	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.7440+1C>T	18.37:g.10681658G>A						PIEZO2_ENST00000285141.4_Splice_Site_p.T272_splice|PIEZO2_ENST00000538948.1_Splice_Site_p.T437_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.T2480_splice|PIEZO2_ENST00000580640.1_Splice_Site_p.T2505_splice	p.T2417_splice			Q9H5I5	PIEZ2_HUMAN			46	7250	-			2480					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Splice_Site	SNP	ENST00000503781.3	37	c.7251_splice																																																																																					0.413	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068	Silent	9	118	0	0	0	1	0	9	118					A	10681658	G	A	10681658	5	1	493	1	0	0	0	0	0	0	1	0	5555	1130	39	1	842	1	FAM38B	18	10681658	Splice_Site	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		10681658	67395590	33	39807											
SMARCA4	6597	broad.mit.edu	37	chr19	11141499	11141499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcagcacccgggctgGggggctcggcctgaacctcc	14	17	1	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:11141499G>A	ENST00000429416.3	+	26	3757	c.3476G>A	c.(3475-3477)gGg>gAg	p.G1159E	SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1159E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159E	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1159	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.L1161fs*3(1)|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)				ACCCGGGCTGGGGGGCTCGGC	0.617			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		2	Unknown(1)|Deletion - Frameshift(1)	p.L1161fs*3(1)|p.?(1)	lung(2)	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						c.(3475-3477)gGg>gAg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							24	26	25					19																	11141499		2196	4299	6495	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141499G>A	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.3476G>A	19.37:g.11141499G>A	ENSP00000395654:p.Gly1159Glu					SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159E	p.G1159E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			25	3760	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1159			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3476G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802846	0.90623	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	H	0.99970	5.115	0.80722	D	1	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	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	D	0.97365	0.9972	10	0.87932	D	0	-48.097	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1159;1159;1159;1159;1159;379;1159;1159	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	E	1159;1159;1223;1159;1159;1159;1159;1159	ENSP00000395654:G1159E;ENSP00000350720:G1159E;ENSP00000343896:G1159E;ENSP00000445036:G1159E;ENSP00000392837:G1159E;ENSP00000397783:G1159E;ENSP00000414727:G1159E	ENSP00000343896:G1159E	G	+	2	0	SMARCA4	11002499	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GGG		0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	15	0	0	0	1	0	3	15					A	11141499	G	A	11141499	3	1	493	1	0	0	0	0	1	0	0	0	14770	1232	43	2	3570	2	SMARCA4	19	11141499	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		11141499	47987484	34	39808											
MAST1	22983	broad.mit.edu	37	chr19	12969474	12969474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgatatcctcaccttcgcCgagaacccgtttgtggtcgg	11	14	1	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:12969474C>T	ENST00000251472.4	+	12	1326	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	MAST1_ENST00000591495.1_Silent_p.A425A	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACCTTCGCCGAGAACCCGT	0.572																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1285-1287)gcC>gcT		microtubule associated serine/threonine kinase 1							100	86	91					19																	12969474		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969474C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1287C>T	19.37:g.12969474C>T						MAST1_ENST00000591495.1_Silent_p.A425A	p.A429A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			12	1326	+			429			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1287C>T	CCDS32921.1																																																																																				0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		16	37	0	0	0	1	0	16	37					T	12969474	C	T	12969474	2	4	493	1	0	0	0	0	0	0	0	1	9324	639	23	1		1	MAST1	19	12969474	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	1827975	12969474	46159509	35	39809											
KLK6	5653	broad.mit.edu	37	chr19	51462421	51462421	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagatgtcacatgtcagggtCacttggcctgaatggttttt	11	7	3	2	rs548343311		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:51462421C>A	ENST00000376851.3	-	6	1173	c.734G>T	c.(733-735)tGa>tTa	p.*245L	KLK6_ENST00000594641.1_Nonstop_Mutation_p.*245L|KLK6_ENST00000376853.4_Missense_Mutation_p.D117Y|CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000391808.1_Nonstop_Mutation_p.*138L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Nonstop_Mutation_p.*138L|KLK6_ENST00000310157.2_Nonstop_Mutation_p.*245L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	0					amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGTCAGGGTCACTTGGCCTG	0.547																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(733-735)tGa>tTa		kallikrein-related peptidase 6							485	458	467					19																	51462421		2203	4300	6503	SO:0001578	stop_lost	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462421C>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"Kallikreins", "Serine peptidases / Serine peptidases"	6367	protein-coding gene	gene with protein product		602652	"protease, serine, 18", "kallikrein 6 (neurosin, zyme)"	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.734G>T	19.37:g.51462421C>A						KLK6_ENST00000594641.1_Nonstop_Mutation_p.*245L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Nonstop_Mutation_p.*245L|KLK6_ENST00000391808.1_Nonstop_Mutation_p.*138L|KLK6_ENST00000456750.2_Nonstop_Mutation_p.*138L|KLK6_ENST00000376853.4_Missense_Mutation_p.D117Y	p.*245L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	6	1173	-		all_neural(266;0.026)	0					A6NJA1|A8MW09|Q6H301	Nonstop_Mutation	SNP	ENST00000376851.3	37	c.734G>T	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	11.36|11.36	1.616670|1.616670	0.28801|0.28801	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000376853|ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D|.	0.84660|.	-1.88|.	3.91|3.91	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|.	0.54095|.	0.1837|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	P|.	0.49708|.	0.62|.	T|.	0.47935|.	-0.9078|.	8|.	0.56958|.	D|.	0.05|.	.|.	5.8613|5.8613	0.18749|0.18749	0.0:0.7454:0.0:0.2546|0.0:0.7454:0.0:0.2546	.|.	117|.	E7ETY0|.	.|.	Y|L	117|245;245;138;138	ENSP00000366049:D117Y|.	ENSP00000366049:D117Y|.	D|X	-|-	1|2	0|2	KLK6|KLK6	56154233|56154233	0.009000|0.009000	0.17119|0.17119	0.005000|0.005000	0.12908|0.12908	0.029000|0.029000	0.11900|0.11900	0.433000|0.433000	0.21477|0.21477	0.904000|0.904000	0.36572|0.36572	0.651000|0.651000	0.88453|0.88453	GAC|TGA		0.547	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		5	160	1	0	5.9392e-07	1	6.33515e-07	5	160					A	51462421	C	A	51462421	4	1	493	1	0	0	0	0	0	0	0	0	8408	837	29	4	4	4	KLK6	19	51462421	Nonstop_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	38492947	51462421	7666562	36	39810											
SMC1B	27127	broad.mit.edu	37	chr22	45804658	45804660	+	In_Frame_Del	DEL	AGA	AGA	-													tatataatttttacacttgcAgaagaagaaataggttttcc							TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr22:45804658_45804660delAGA	ENST00000357450.4	-	2	228_230	c.229_231delTCT	c.(229-231)tctdel	p.S77del	SMC1B_ENST00000404354.3_In_Frame_Del_p.S77del	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	77					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)		TTACACTTGCAGAAGAAGAAATA	0.291																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(229-231)del		structural maintenance of chromosomes 1B																																				SO:0001651	inframe_deletion	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45804658_45804660delAGA	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.229_231delTCT	22.37:g.45804664_45804666delAGA	ENSP00000350036:p.Ser77del					SMC1B_ENST00000404354.3_In_Frame_Del_p.S77del	p.S77del	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	228_230	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	77					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	In_Frame_Del	DEL	ENST00000357450.4	37	c.229_231delTCT	CCDS43027.1																																																																																				0.291	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		7	110						7	110	---	---	---	---	-	45804660	AGA	-	45804658	7	5	493	1	0	1	0	1	0	0	0	0	14782	175	7	0	3572	0	SMC1B	22	45804658	In_Frame_Del	DEL	AGA	TCGA-TQ-A7RV-01A-21D-A34A-08		45804658	5499908	37	39811											
ATRX	546	broad.mit.edu	37	chrX	76938182	76938183	+	Frame_Shift_Del	DEL	TG	TG	-													attatccattccttttttgcTgtgtttctcatcttcagaag							TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:76938182_76938183delTG	ENST00000373344.5	-	9	2779_2780	c.2565_2566delCA	c.(2563-2568)cacagcfs	p.HS855fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	855					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						CCTTTTTTGCTGTGTTTCTCAT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2563-2568)cagcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938182_76938183delTG	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.2565_2566delCA	X.37:g.76938184_76938185delTG	ENSP00000362441:p.His855fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs|ATRX_ENST00000480283.1_5'UTR	p.HS855fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2779_2780	-			855					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2565_2566delCA	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	56						48	56	---	---	---	---	-	76938183	TG	-	76938182	7	5	493	1	0	1	0	1	0	0	0	0	1208	1580	55	0	5020	0	ATRX	23	76938182	Frame_Shift_Del	DEL	TG	TCGA-TQ-A7RV-01A-21D-A34A-08		76938182	78332378	38	39812											
ZNF711	7552	broad.mit.edu	37	chrX	84526116	84526117	+	Frame_Shift_Del	DEL	AT	AT	-													tccttctgaactcaagaaacAtatgagaacccatactggtg							TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:84526116_84526117delAT	ENST00000373165.3	+	9	1874_1875	c.1568_1569delAT	c.(1567-1569)catfs	p.H523fs	ZNF711_ENST00000542798.1_Frame_Shift_Del_p.H365fs|ZNF711_ENST00000276123.3_Frame_Shift_Del_p.H523fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.H531fs|ZNF711_ENST00000360700.4_Frame_Shift_Del_p.H569fs	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	523					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						CTCAAGAAACATATGAGAACCC	0.396																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1705-1707)cfs		zinc finger protein 711																																				SO:0001589	frameshift_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526116_84526117delAT	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.1568_1569delAT	X.37:g.84526118_84526119delAT	ENSP00000362260:p.His523fs					ZNF711_ENST00000276123.3_Frame_Shift_Del_p.H523fs|ZNF711_ENST00000542798.1_Frame_Shift_Del_p.H365fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.H531fs|ZNF711_ENST00000373165.3_Frame_Shift_Del_p.H523fs	p.H569fs			Q9Y462	ZN711_HUMAN			10	2592_2593	+			523					B4DSV4|Q6NX42|Q9Y4J6	Frame_Shift_Del	DEL	ENST00000373165.3	37	c.1706_1707delAT	CCDS35344.1																																																																																				0.396	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		7	36						7	36	---	---	---	---	-	84526117	AT	-	84526116	7	5	493	1	0	1	0	1	0	0	0	0	18113	217	8	0	1594	0	ZNF711	23	84526116	Frame_Shift_Del	DEL	AT	TCGA-TQ-A7RV-01A-21D-A34A-08	7587934	84526116	70744444	39	39813											
FAM176B	55194	broad.mit.edu	37	chr1	36788037	36788037	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagccgctgcgcccgctcCagctcctccgccgacgtgaa	10	20	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:36788037C>A	ENST00000270824.1	-	3	648	c.357G>T	c.(355-357)ctG>ctT	p.L119L	SH3D21_ENST00000474766.1_3'UTR|RP11-268J15.5_ENST00000373137.2_5'Flank|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	119						integral component of membrane (GO:0016021)											GCGCCCGCTCCAGCTCCTCCG	0.741																																						ENST00000270824.1																			0											c.(355-357)ctG>ctT		eva-1 homolog B (C. elegans)							13	16	15					1																	36788037		2106	4138	6244	SO:0001819	synonymous_variant	55194							g.chr1:36788037C>A	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 78", "family with sequence similarity 176, member B"	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.357G>T	1.37:g.36788037C>A						EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.L119L	NM_018166.1	NP_060636.1					3	648	-								D3DPS7	Silent	SNP	ENST00000270824.1	37	c.357G>T	CCDS406.1																																																																																				0.741	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		3	59	1	0	1	1	1	3	59					A	36788037	C	A	36788037	2	1	494	1	0	0	0	0	0	0	0	1	5500	581	21	4		4	FAM176B	1	36788037	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		36788037	212462584	1	39814											
ZSWIM5	57643	broad.mit.edu	37	chr1	45486434	45486434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgcttctgtattgcttccaGaattgttcggagtctcaaag	10	8	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:45486434G>C	ENST00000359600.5	-	12	2681	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	826						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATTGCTTCCAGAATTGTTCGG	0.433																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2476-2478)Ctg>Gtg		zinc finger, SWIM-type containing 5							246	236	239					1																	45486434		1914	4129	6043	SO:0001583	missense	57643						zinc ion binding	g.chr1:45486434G>C	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2476C>G	1.37:g.45486434G>C	ENSP00000352614:p.Leu826Val						p.L826V	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			12	2681	-	Acute lymphoblastic leukemia(166;0.155)		826					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2476C>G	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242300	0.58995	.	.	ENSG00000162415	ENST00000359600	T	0.56776	0.44	5.21	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.62209	1.925	0.53688	D	0.999978	D	0.76494	0.999	D	0.72338	0.977	T	0.63457	-0.6633	10	0.44086	T	0.13	-7.9682	10.3454	0.43903	0.2172:0.0:0.7828:0.0	.	826	Q9P217	ZSWM5_HUMAN	V	826	ENSP00000352614:L826V	ENSP00000352614:L826V	L	-	1	2	ZSWIM5	45259021	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.628000	0.54259	0.862000	0.35528	0.561000	0.74099	CTG		0.433	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		11	420	0	0	0	1	0	11	420					C	45486434	G	C	45486434	3	2	494	1	0	0	0	0	1	0	0	0	18241	933	33	4	1093	4	ZSWIM5	1	45486434	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	8698397	45486434	203764187	2	39815											
CD1A	909	broad.mit.edu	37	chr1	158226059	158226059	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgcaggaaaggcacaTctccagcggcaaggtcagtc	12	11	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:158226059T>C	ENST00000289429.5	+	3	1124	c.591T>C	c.(589-591)caT>caC	p.H197H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	197	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAAGGCACATCTCCAGCGGC	0.453																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(589-591)caT>caC		CD1a molecule	Antithymocyte globulin(DB00098)						128	106	113					1																	158226059		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226059T>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.591T>C	1.37:g.158226059T>C							p.H197H	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	1124	+	all_hematologic(112;0.0378)		197			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.591T>C	CCDS1174.1																																																																																				0.453	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		6	168	0	0	0	1	0	6	168					C	158226059	T	C	158226059	2	2	494	1	0	0	0	0	0	0	0	1	2974	1432	50	3		3	CD1A	1	158226059	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	112739625	158226059	91024562	3	39816											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	12	9	2	1	rs149372418	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299	234	256		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		4	80	0	0	0	1	0	4	80					A	168510202	G	A	168510202	2	1	494	1	0	0	0	0	0	0	0	1	17421	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	10284143	168510202	80740419	4	39817											
KMO	23596	broad.mit.edu	37	chr1	241753558	241753558	+	IGR	DEL	A	A	-													tgtgcagcgttggcattggcAaaaaaaggttggaacagtta							TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:241753558delA	ENST00000366554.2	-	0	2620				KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366559.4_Frame_Shift_Del_p.Q418fs	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGGCATTGGCAAAAAAAGGTT	0.313																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1252-1254)cafs		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							95	98	97					1																	241753558		2203	4300	6503	SO:0001628	intergenic_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241753558delA	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753558delA						KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs	p.Q418fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		14	1564	+	Ovarian(103;0.103)|all_lung(81;0.23)		418					Q8IX08|Q9Y344	Frame_Shift_Del	DEL	ENST00000366554.2	37	c.1253delA	CCDS31072.1																																																																																				0.313	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		7	213						7	213	---	---	---	---	-	241753558	A	-	241753558	6	5	494	0	1	1	0	1	0	0	0	0	8424	130	5	0		0	KMO	1	241753558	IGR	DEL	A	TCGA-TQ-A7RW-01A-11D-A33T-08	73243356	241753558	7497063	5	39818											
BCL11A	53335	broad.mit.edu	37	chr2	60688207	60688207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggacaggccccccgAggccgactcgcccggggagc	14	16	0	0	rs147115751		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:60688207A>G	ENST00000335712.6	-	4	2067	c.1840T>C	c.(1840-1842)Tcg>Ccg	p.S614P	BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	614					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)			AGGCCCCCCGAGGCCGACTCG	0.667			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				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						c.(1840-1842)Tcg>Ccg		B-cell CLL/lymphoma 11A (zinc finger protein)							13	17	16					2																	60688207		2146	4226	6372	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688207A>G	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.1840T>C	2.37:g.60688207A>G	ENSP00000338774:p.Ser614Pro					BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P	p.S614P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2067	-			614					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1840T>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	9.027	0.986308	0.18889	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09445	2.98;3.25;3.15;3.29;3.2	6.17	4.96	0.65561	.	0.426055	0.23552	N	0.046958	T	0.08980	0.0222	L	0.31065	0.9	0.54753	D	0.99998	B;B;B;B;B	0.14012	0.002;0.0;0.009;0.0;0.001	B;B;B;B;B	0.15870	0.005;0.0;0.014;0.002;0.002	T	0.22034	-1.0228	10	0.22109	T	0.4	-1.307	13.2634	0.60120	0.868:0.132:0.0:0.0	.	580;283;580;614;614	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	P	614;639;580;283;614;580	ENSP00000349300:S614P;ENSP00000438303:S580P;ENSP00000443712:S283P;ENSP00000338774:S614P;ENSP00000351307:S580P	ENSP00000338774:S614P	S	-	1	0	BCL11A	60541711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.774000	0.62339	2.371000	0.80710	0.533000	0.62120	TCG		0.667	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		25	42	0	0	0	1	0	25	42					G	60688207	A	G	60688207	3	3	494	1	0	0	0	0	1	0	0	0	1363	304	11	3	777	3	BCL11A	2	60688207	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		60688207	182511166	6	39819											
RANBP2	5903	broad.mit.edu	37	chr2	109368336	109368336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattttttagacctggaaaCgtagcaaaattgagacttct	7	7	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:109368336C>T	ENST00000283195.6	+	12	1767	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	547					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						GACCTGGAAACGTAGCAAAAT	0.358																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(1639-1641)aaC>aaT		RAN binding protein 2							93	115	107					2																	109368336		1509	2708	4217	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109368336C>T	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.1641C>T	2.37:g.109368336C>T							p.N547N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			12	1767	+			547					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.1641C>T	CCDS2079.1																																																																																				0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		165	305	0	0	0	1	0	165	305					T	109368336	C	T	109368336	2	4	494	1	0	0	0	0	0	0	0	1	13028	535	19	1		1	RANBP2	2	109368336	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	48680129	109368336	133831037	7	39820											
CWC22	57703	broad.mit.edu	37	chr2	180810352	180810352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgtcttctttcttttTgtttcctatcatttgtttgc	5	8	5	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810352T>G	ENST00000410053.3	-	20	2530	c.2231A>C	c.(2230-2232)cAa>cCa	p.Q744P	CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	744					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTTCTTTTTGTTTCCTATC	0.393																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2230-2232)cAa>cCa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							122	112	115					2																	180810352		1854	4095	5949	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810352T>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2231A>C	2.37:g.180810352T>G	ENSP00000387006:p.Gln744Pro					CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2530	-			744					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.2231A>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	6.579	0.475131	0.12521	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.23348	2.19;2.19;1.91	5.02	3.87	0.44632	.	1.156650	0.06053	N	0.656875	T	0.23210	0.0561	L	0.40543	1.245	0.09310	N	1	B	0.17268	0.021	B	0.17722	0.019	T	0.27640	-1.0068	10	0.56958	D	0.05	-1.1062	5.2728	0.15634	0.0:0.0981:0.1962:0.7058	.	744	Q9HCG8	CWC22_HUMAN	P	744	ENSP00000387006:Q744P;ENSP00000295749:Q744P;ENSP00000384159:Q744P	ENSP00000295749:Q744P	Q	-	2	0	CWC22	180518597	0.176000	0.23096	0.688000	0.30117	0.274000	0.26718	0.720000	0.25896	0.871000	0.35750	0.533000	0.62120	CAA		0.393	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		7	117	0	0	0	1	0	7	117					G	180810352	T	G	180810352	3	3	494	1	0	0	0	0	1	0	0	0	4068	1812	63	5	499	5	CWC22	2	180810352	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	71442016	180810352	62389021	8	39821											
CWC22	57703	broad.mit.edu	37	chr2	180810420	180810420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttctggtcttcccatgTcccttctttcttacatcatt	3	13	5	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810420T>C	ENST00000410053.3	-	20	2462	c.2163A>G	c.(2161-2163)ggA>ggG	p.G721G	CWC22_ENST00000295749.6_Silent_p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	721					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTCCCATGTCCCTTCTTTC	0.333																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2161-2163)ggA>ggG		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							55	50	52					2																	180810420		1843	4082	5925	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810420T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2163A>G	2.37:g.180810420T>C						CWC22_ENST00000295749.6_Silent_p.G721G	p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2462	-			721					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.2163A>G	CCDS46465.1																																																																																				0.333	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		3	59	0	0	0	1	0	3	59					C	180810420	T	C	180810420	2	2	494	1	0	0	0	0	0	0	0	1	4068	1654	58	3		3	CWC22	2	180810420	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	68	180810420	62388953	9	39822											
SF3B1	23451	broad.mit.edu	37	chr2	198267533	198267533	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcatggtagagatcatAgtagccagaccagcagccta	11	10	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198267533A>C	ENST00000335508.6	-	14	1915	c.1824T>G	c.(1822-1824)acT>acG	p.T608T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	608					anterior/posterior pattern specification (GO:0009952)|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)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGAGATCATAGTAGCCAGAC	0.398			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1822-1824)acT>acG		splicing factor 3b, subunit 1, 155kDa							66	65	66					2																	198267533		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267533A>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1824T>G	2.37:g.198267533A>C							p.T608T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1915	-			608					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.1824T>G	CCDS33356.1																																																																																				0.398	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			5	128	0	0	0	1	0	5	128					C	198267533	A	C	198267533	2	2	494	1	0	0	0	0	0	0	0	1	14149	407	15	5		5	SF3B1	2	198267533	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	17457113	198267533	44931840	10	39823											
MARS2	92935	broad.mit.edu	37	chr2	198571649	198571650	+	Frame_Shift_Ins	INS	-	-	A													gtggatgctccctggctgggINStactgtgcttcatgtggcct							TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198571649_198571650insA	ENST00000282276.6	+	1	1563_1564	c.1520_1521insA	c.(1519-1524)ggtactfs	p.T508fs	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	508					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTGGCTGGGTACTGTGCTTC	0.569																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1519-1521)gacfs		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198571649_198571650insA	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	Exception_encountered	2.37:g.198571649_198571650insA	ENSP00000282276:p.Thr508fs					AC011997.1_ENST00000409845.1_Intron	p.D507fs	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	1563_1564	+			507					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Frame_Shift_Ins	INS	ENST00000282276.6	37	c.1520_1521insA	CCDS33358.1																																																																																				0.569	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		15	277						15	277	---	---	---	---	A	198571650	-	A	198571649	7	5	494	1	0	1	1	0	0	0	0	0	9317	1261	44	0	1522	0	MARS2	2	198571649	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RW-01A-11D-A33T-08	304116	198571649	44627724	11	39824											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			60	108	0	0	0	1	0	60	108					T	209113112	C	T	209113112	3	4	494	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	10541463	209113112	34086261	12	39825											
RQCD1	9125	broad.mit.edu	37	chr2	219449427	219449427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagtatctccggctcaCcagccttggagttattggta	10	10	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:219449427C>G	ENST00000273064.6	+	4	788	c.413C>G	c.(412-414)aCc>aGc	p.T138S	RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	138					cytokine-mediated signaling pathway (GO:0019221)|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)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCGGCTCACCAGCCTTGGA	0.438																																						ENST00000273064.6																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(412-414)aCc>aGc		RCD1 required for cell differentiation1 homolog (S. pombe)							209	212	211					2																	219449427		2203	4300	6503	SO:0001583	missense	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219449427C>G	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.413C>G	2.37:g.219449427C>G	ENSP00000273064:p.Thr138Ser					RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	788	+		Renal(207;0.0915)	138					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	c.413C>G	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829239	0.90955	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.88570	2.965	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;P	0.77557	0.99;0.957;0.872	T	0.78079	-0.2344	10	0.36615	T	0.2	.	19.1489	0.93479	0.0:1.0:0.0:0.0	.	138;138;138	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	S	138	ENSP00000273064:T138S;ENSP00000441357:T138S;ENSP00000443687:T138S;ENSP00000295701:T138S	ENSP00000273064:T138S	T	+	2	0	RQCD1	219157671	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.685000	0.84117	2.587000	0.87381	0.563000	0.77884	ACC		0.438	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		5	314	0	0	0	1	0	5	314					G	219449427	C	G	219449427	3	3	494	1	0	0	0	0	1	0	0	0	13670	507	18	4	427	4	RQCD1	2	219449427	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	10336315	219449427	23749946	13	39826											
NGEF	25791	broad.mit.edu	37	chr2	233791769	233791769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctatttgttcaatgaGgtttctccaggagtcggcgg	11	11	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:233791769G>A	ENST00000264051.3	-	4	789	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	NGEF_ENST00000409079.1_Missense_Mutation_p.L79F|NGEF_ENST00000373552.4_Missense_Mutation_p.L79F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	171	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTTCAATGAGGTTTCTCCAG	0.637																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(511-513)Ctc>Ttc		neuronal guanine nucleotide exchange factor							51	53	52					2																	233791769		2202	4300	6502	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233791769G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.511C>T	2.37:g.233791769G>A	ENSP00000264051:p.Leu171Phe					NGEF_ENST00000409079.1_Missense_Mutation_p.L79F|NGEF_ENST00000373552.4_Missense_Mutation_p.L79F	p.L171F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	4	789	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	171			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.511C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042799	0.36085	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T	0.74002	-0.8;-0.75	4.84	3.74	0.42951	.	0.205916	0.33591	N	0.004744	T	0.59569	0.2203	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15141	0.002;0.009;0.012	B;B;B	0.12156	0.004;0.007;0.006	T	0.57688	-0.7768	10	0.39692	T	0.17	-30.2539	10.0823	0.42397	0.1654:0.0:0.8346:0.0	.	79;79;171	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	F	171;79;61;79	ENSP00000264051:L171F;ENSP00000362653:L79F	ENSP00000264051:L171F	L	-	1	0	NGEF	233500013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.899000	0.48679	2.240000	0.73641	0.655000	0.94253	CTC		0.637	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		37	66	0	0	0	1	0	37	66					A	233791769	G	A	233791769	3	1	494	1	0	0	0	0	1	0	0	0	10394	1000	35	2	1669	2	NGEF	2	233791769	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	14342342	233791769	9407604	14	39827											
PPARG	5468	broad.mit.edu	37	chr3	12475550	12475550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctcagacagattgtcaCggaacacgtgcagctactgc	10	12	2	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:12475550C>T	ENST00000287820.6	+	7	1545	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000397026.2_Missense_Mutation_p.T453M|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	475	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CAGATTGTCACGGAACACGTG	0.527			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"peroxisome proliferative activated receptor, gamma"	yes	"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1357-1359)aCg>aTg		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						82	73	76					3																	12475550		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12475550C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1424C>T	3.37:g.12475550C>T	ENSP00000287820:p.Thr475Met					PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M	p.T453M			P37231	PPARG_HUMAN			9	1741	+			475			Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.1358C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759437	0.89932	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98581	1.0650	10	0.62326	D	0.03	.	19.6973	0.96031	0.0:1.0:0.0:0.0	.	475	P37231	PPARG_HUMAN	M	447;447;447;447;453;475	ENSP00000380205:T447M;ENSP00000312472:T447M;ENSP00000380210:T447M;ENSP00000380207:T447M;ENSP00000380221:T453M;ENSP00000287820:T475M	ENSP00000287820:T475M	T	+	2	0	PPARG	12450550	1.000000	0.71417	0.847000	0.33407	0.969000	0.65631	7.776000	0.85560	2.657000	0.90304	0.650000	0.86243	ACG		0.527	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		30	164	0	0	0	1	0	30	164					T	12475550	C	T	12475550	3	4	494	1	0	0	0	0	1	0	0	0	12299	536	19	1	1450	1	PPARG	3	12475550	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		12475550	185546880	15	39828											
RASSF1	51364	broad.mit.edu	37	chr3	50378177	50378177	+	IGR	DEL	C	C	-													tccagccgggtgcggcccttCccagcgcgcccagcgggtgc							TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:50378177delC	ENST00000231749.3	-	0	2896				ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000359365.4_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000395126.3_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10						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)		TGCGGCCCTTCCCAGCGCGCC	0.741										TSP Lung(30;0.18)																												ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(58-60)ggfs		Ras association (RalGDS/AF-6) domain family member 1							2	3	3					3																	50378177		1568	3461	5029	SO:0001628	intergenic_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50378177delC	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		3.37:g.50378177delC						RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000488024.1_5'UTR	p.G20fs	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	1	166	-			20			Mediates interaction with E4F1.		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Frame_Shift_Del	DEL	ENST00000231749.3	37	c.60delG	CCDS2825.1																																																																																				0.741	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		2	4						2	4	---	---	---	---	-	50378177	C	-	50378177	6	5	494	0	1	1	0	1	0	0	0	0	13084	842	30	0		0	RASSF1	3	50378177	IGR	DEL	C	TCGA-TQ-A7RW-01A-11D-A33T-08	37902627	50378177	147644253	16	39829											
PLXND1	23129	broad.mit.edu	37	chr3	129289944	129289944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttctccctcttggccGtagagaactgtgggttgggg	13	11	2	1	rs528635984		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:129289944G>A	ENST00000324093.4	-	18	3717	c.3539C>T	c.(3538-3540)aCg>aTg	p.T1180M	PLXND1_ENST00000393239.1_Missense_Mutation_p.T1180M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1180					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						CCTCTTGGCCGTAGAGAACTG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17056	0.0		0.0	False		,,,				2504	0.001				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				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						c.(3538-3540)aCg>aTg		plexin D1							137	150	146					3																	129289944		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289944G>A	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.3539C>T	3.37:g.129289944G>A	ENSP00000317128:p.Thr1180Met					PLXND1_ENST00000324093.4_Missense_Mutation_p.T1180M	p.T1180M			Q9Y4D7	PLXD1_HUMAN			18	3717	-			1180					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3539C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859213	0.71834	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35605	1.35;1.3	5.08	5.08	0.68730	.	0.338132	0.30830	N	0.008800	T	0.56031	0.1958	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.56288	-0.8004	10	0.49607	T	0.09	.	18.4653	0.90752	0.0:0.0:1.0:0.0	.	1180	Q9Y4D7	PLXD1_HUMAN	M	1180	ENSP00000317128:T1180M;ENSP00000376931:T1180M	ENSP00000317128:T1180M	T	-	2	0	PLXND1	130772634	1.000000	0.71417	0.996000	0.52242	0.394000	0.30568	9.121000	0.94375	2.366000	0.80165	0.491000	0.48974	ACG		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	399	0	0	0	1	0	5	399					A	129289944	G	A	129289944	3	1	494	1	0	0	0	0	1	0	0	0	12127	1145	40	1	2314	1	PLXND1	3	129289944	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	78911767	129289944	68732486	17	39830											
CRIPAK	285464	broad.mit.edu	37	chr4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-													agtgcctgcctgctcacacaCgtgcccatgtggagtgcccg							TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)acgfs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1162-1164)afs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389462_1389463delCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1163_1164delCG	4.37:g.1389462_1389463delCG	ENSP00000323978:p.Thr388fs						p.T388fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4123_4124	+			388			Interaction with PAK1.		Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1163_1164delCG	CCDS3349.1																																																																																				0.624	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	338						7	338	---	---	---	---	-	1389463	CG	-	1389462	7	5	494	1	0	1	0	1	0	0	0	0	3877	536	19	0	1165	0	CRIPAK	4	1389462	Frame_Shift_Del	DEL	CG	TCGA-TQ-A7RW-01A-11D-A33T-08		1389462	189764814	18	39831											
EVC	2121	broad.mit.edu	37	chr4	5798788	5798788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggcatgacctgctgttGcgctcagccctccggaggct	14	14	1	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:5798788G>A	ENST00000264956.6	+	14	2110	c.1926G>A	c.(1924-1926)ttG>ttA	p.L642L	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.L642L	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTGCTGTTGCGCTCAGCCC	0.647																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1924-1926)ttG>ttA		Ellis van Creveld syndrome							43	43	43					4																	5798788		2202	4300	6502	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5798788G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1926G>A	4.37:g.5798788G>A						EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.L642L	p.L642L			P57679	EVC_HUMAN			14	2110	+		Myeloproliferative disorder(84;0.117)	642						Silent	SNP	ENST00000264956.6	37	c.1926G>A	CCDS3383.1																																																																																				0.647	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			8	68	0	0	0	1	0	8	68					A	5798788	G	A	5798788	2	1	494	1	0	0	0	0	0	0	0	1	5285	1310	46	2		2	EVC	4	5798788	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	4409326	5798788	185355488	19	39832											
CCRN4L	25819	broad.mit.edu	37	chr4	139966532	139966532	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcactgaagaacagatTggacccaacaggttaccttc	8	12	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:139966532T>A	ENST00000280614.2	+	3	1393	c.1200T>A	c.(1198-1200)atT>atA	p.I400I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	400					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AAGAACAGATTGGACCCAACA	0.453																																					Ovarian(144;566 1842 19130 21379 22209)	ENST00000280614.2																			0				kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1198-1200)atT>atA		CCR4 carbon catabolite repression 4-like (S. cerevisiae)							102	100	100					4																	139966532		2203	4300	6503	SO:0001819	synonymous_variant	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139966532T>A	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1200T>A	4.37:g.139966532T>A						ELF2_ENST00000515489.1_Intron	p.I400I	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN			3	1393	+	all_hematologic(180;0.162)		400					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	c.1200T>A	CCDS3743.1																																																																																				0.453	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		4	216	0	0	0	1	0	4	216					A	139966532	T	A	139966532	2	1	494	1	0	0	0	0	0	0	0	1	2951	1800	63	5		5	CCRN4L	4	139966532	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	134167744	139966532	51187744	20	39833											
ZNF622	90441	broad.mit.edu	37	chr5	16463248	16463248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtctgcaaattccaaagCagcatcgccatctgtgaaga	9	10	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:16463248C>T	ENST00000308683.2	-	3	1144	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	340					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AATTCCAAAGCAGCATCGCCA	0.408																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1018-1020)Gct>Act		zinc finger protein 622							146	147	146					5																	16463248		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463248C>T	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1018G>A	5.37:g.16463248C>T	ENSP00000310042:p.Ala340Thr						p.A340T	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			3	1144	-			340						Missense_Mutation	SNP	ENST00000308683.2	37	c.1018G>A	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552762	0.86127	.	.	ENSG00000173545	ENST00000308683	T	0.42513	0.97	6.03	5.17	0.71159	.	0.094831	0.64402	D	0.000001	T	0.45478	0.1344	L	0.39245	1.2	0.80722	D	1	P	0.45283	0.855	P	0.50896	0.653	T	0.21314	-1.0249	10	0.14252	T	0.57	-1.2463	17.0607	0.86547	0.0:0.8654:0.1346:0.0	.	340	Q969S3	ZN622_HUMAN	T	340	ENSP00000310042:A340T	ENSP00000310042:A340T	A	-	1	0	ZNF622	16516248	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	6.085000	0.71343	1.554000	0.49487	0.655000	0.94253	GCT		0.408	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		6	394	0	0	0	1	0	6	394					T	16463248	C	T	16463248	3	4	494	1	0	0	0	0	1	0	0	0	18043	710	25	2	431	2	ZNF622	5	16463248	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		16463248	164452012	21	39834											
SUB1	10923	broad.mit.edu	37	chr5	32601155	32601155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagctgaaggaacagAtttctgacattgatgatgca	12	7	1	5			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:32601155A>G	ENST00000265073.4	+	5	477	c.349A>G	c.(349-351)Att>Gtt	p.I117V	SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	117					regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAAGGAACAGATTTCTGACAT	0.313																																						ENST00000265073.4																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-351)Att>Gtt		SUB1 homolog (S. cerevisiae)							67	70	69					5																	32601155		2202	4300	6502	SO:0001583	missense	10923				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity	g.chr5:32601155A>G	X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.349A>G	5.37:g.32601155A>G	ENSP00000265073:p.Ile117Val					SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V	p.I117V	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN			5	477	+			117					Q96L29	Missense_Mutation	SNP	ENST00000265073.4	37	c.349A>G	CCDS3897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.99|15.99	2.996420|2.996420	0.54147|0.54147	.|.	.|.	ENSG00000113387|ENSG00000113387	ENST00000542111|ENST00000506237;ENST00000512913;ENST00000265073;ENST00000515355;ENST00000502897	.|T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Transcriptional coactivator p15 (1);ssDNA-binding transcriptional regulator (2);	.|0.109899	.|0.64402	.|D	.|0.000002	.|T	.|0.44286	.|0.1286	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	.|B	.|0.27951	.|0.195	.|B	.|0.30316	.|0.114	.|T	.|0.28170	.|-1.0052	.|10	.|0.26408	.|T	.|0.33	.|.	16.2806|16.2806	0.82678|0.82678	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|117	.|P53999	.|TCP4_HUMAN	.|V	-1|117	.|ENSP00000422078:I117V;ENSP00000422806:I117V;ENSP00000265073:I117V;ENSP00000426850:I117V;ENSP00000427100:I117V	.|ENSP00000265073:I117V	.|I	+|+	.|1	.|0	SUB1|SUB1	32636912|32636912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.904000|8.904000	0.92590|0.92590	2.248000|2.248000	0.74166|0.74166	0.533000|0.533000	0.62120|0.62120	.|ATT		0.313	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253730.1	NM_006713		10	168	0	0	0	1	0	10	168					G	32601155	A	G	32601155	3	3	494	1	0	0	0	0	1	0	0	0	15361	333	12	3	363	3	SUB1	5	32601155	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	16137907	32601155	148314105	22	39835											
NNT	23530	broad.mit.edu	37	chr5	43659378	43659378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagagggcttcctgctcAacaacaatctgctgaccatc	9	13	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:43659378A>T	ENST00000264663.5	+	17	2781	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y	NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	854					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTTCCTGCTCAACAACAATCT	0.512																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2560-2562)Aac>Tac		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						150	132	138					5																	43659378		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659378A>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2560A>T	5.37:g.43659378A>T	ENSP00000264663:p.Asn854Tyr					NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			17	2781	+	Lung NSC(6;2.58e-06)		854					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2560A>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109065	0.77096	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92397	-3.03;-3.03;-3.03	5.51	5.51	0.81932	.	0.041485	0.85682	D	0.000000	D	0.96194	0.8759	M	0.85373	2.75	0.58432	D	0.999999	D	0.71674	0.998	D	0.71870	0.975	D	0.96838	0.9616	10	0.87932	D	0	-18.2459	15.6362	0.76953	1.0:0.0:0.0:0.0	.	854	Q13423	NNTM_HUMAN	Y	369;854;854;723	ENSP00000264663:N854Y;ENSP00000343873:N854Y;ENSP00000426343:N723Y	ENSP00000264663:N854Y	N	+	1	0	NNT	43695135	0.985000	0.35326	1.000000	0.80357	0.994000	0.84299	2.823000	0.48081	2.083000	0.62718	0.533000	0.62120	AAC		0.512	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		49	92	0	0	0	1	0	49	92					T	43659378	A	T	43659378	3	4	494	1	0	0	0	0	1	0	0	0	10510	130	5	5	2622	5	NNT	5	43659378	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	11058223	43659378	137255882	23	39836											
TMEM174	134288	broad.mit.edu	37	chr5	72469122	72469122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtcaatgtgttctccGtcactccttacacacccagc	5	17	3	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:72469122G>A	ENST00000296776.5	+	1	101	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGTGTTCTCCGTCACTCCTTA	0.582																																						ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(52-54)Gtc>Atc		transmembrane protein 174							151	144	147					5																	72469122		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469122G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.52G>A	5.37:g.72469122G>A	ENSP00000296776:p.Val18Ile					TMEM174_ENST00000511737.1_3'UTR	p.V18I	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	101	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	18					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.52G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570454	0.28003	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.82	1.94	0.25998	.	0.243897	0.34652	N	0.003787	T	0.22085	0.0532	N	0.17082	0.46	0.25646	N	0.98614	B	0.21821	0.061	B	0.17098	0.017	T	0.15009	-1.0452	9	0.23891	T	0.37	-14.2458	7.173	0.25728	0.1891:0.2266:0.5843:0.0	.	18	Q8WUU8	TM174_HUMAN	I	18	.	ENSP00000296776:V18I	V	+	1	0	TMEM174	72504878	0.943000	0.32029	0.375000	0.26029	0.948000	0.59901	1.390000	0.34464	0.358000	0.24211	0.591000	0.81541	GTC		0.582	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		6	383	0	0	0	1	0	6	383					A	72469122	G	A	72469122	3	1	494	1	0	0	0	0	1	0	0	0	16087	1145	40	1	54	1	TMEM174	5	72469122	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	28809744	72469122	108446138	24	39837											
MEGF10	84466	broad.mit.edu	37	chr5	126753365	126753365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagagtgtgcctgcaagcCgggctggtcaggactctact	15	10	2	1	rs141706024		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:126753365C>A	ENST00000274473.6	+	11	1433	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q|MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	389	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCTGCAAGCCGGGCTGGTCA	0.517																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1165-1167)cCg>cAg		multiple EGF-like-domains 10							139	121	127					5																	126753365		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126753365C>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1166C>A	5.37:g.126753365C>A	ENSP00000274473:p.Pro389Gln					MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q	p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	11	1433	+		Prostate(80;0.165)	389			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1166C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644588	0.87859	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	EGF-like, laminin (2);EGF-like region, conserved site (2);	0.075885	0.53938	D	0.000053	T	0.76564	0.4005	M	0.89785	3.06	0.49798	D	0.999829	P;P	0.42692	0.762;0.787	P;P	0.56216	0.794;0.778	T	0.78778	-0.2071	10	0.54805	T	0.06	-3.0761	19.8252	0.96614	0.0:1.0:0.0:0.0	.	389;389	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	Q	389	ENSP00000423354:P389Q;ENSP00000423195:P389Q;ENSP00000416284:P389Q;ENSP00000274473:P389Q	ENSP00000274473:P389Q	P	+	2	0	MEGF10	126781264	0.999000	0.42202	0.988000	0.46212	0.992000	0.81027	4.103000	0.57783	2.692000	0.91855	0.655000	0.94253	CCG		0.517	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		13	312	1	0	1.02788e-11	1	1.0773e-11	13	312					A	126753365	C	A	126753365	3	1	494	1	0	0	0	0	1	0	0	0	9460	652	23	4	1200	4	MEGF10	5	126753365	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	54284243	126753365	54161895	25	39838											
PCDHA9	9752	broad.mit.edu	37	chr5	140230180	140230180	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggatgtcaacgtgtacctGatcatcgccatctgcgcggt	12	11	3	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:140230180G>C	ENST00000532602.1	+	1	3133	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.L700L|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	700					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)			ACGTGTACCTGATCATCGCCA	0.662																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				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						c.(2098-2100)ctG>ctC									79	72	74					5																	140230180		2196	4272	6468	SO:0001819	synonymous_variant	0							g.chr5:140230180G>C	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.2100G>C	5.37:g.140230180G>C						PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L	p.L700L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2824	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2100G>C	CCDS54920.1																																																																																				0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		66	177	0	0	0	1	0	66	177					C	140230180	G	C	140230180	2	2	494	1	0	0	0	0	0	0	0	1	11531	1277	45	4		4	PCDHA9	5	140230180	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	13476815	140230180	40685080	26	39839											
CD74	972	broad.mit.edu	37	chr5	149792211	149792211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggccccagggcgccgGcccagcatgggcagttgctc	16	16	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:149792211G>A	ENST00000009530.7	-	1	103	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000353334.6_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	34					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCGCCGGCCCAGCATGG	0.617			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"CD74 molecule, major histocompatibility complex, class II invariant chain"			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(100-102)ggC>ggT		CD74 molecule, major histocompatibility complex, class II invariant chain							83	89	87					5																	149792211		2203	4300	6503	SO:0001819	synonymous_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149792211G>A		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.102C>T	5.37:g.149792211G>A						CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000009530.7_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G	p.G34G	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	281	-		all_hematologic(541;0.224)	34					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Silent	SNP	ENST00000009530.7	37	c.102C>T	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	G	2.726	-0.265525	0.05754	.	.	ENSG00000019582	ENST00000518797	.	.	.	5.77	3.82	0.43975	.	.	.	.	.	T	0.54951	0.1890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52026	-0.8630	4	.	.	.	-24.0223	5.8013	0.18416	0.0978:0.0:0.6668:0.2355	.	.	.	.	S	29	.	.	P	-	1	0	CD74	149772404	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	2.738000	0.47401	1.440000	0.47531	0.655000	0.94253	CCG		0.617	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		7	280	0	0	0	1	0	7	280					A	149792211	G	A	149792211	2	1	494	1	0	0	0	0	0	0	0	1	3035	1190	42	2		2	CD74	5	149792211	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	9562031	149792211	31123049	27	39840											
FOXI1	2299	broad.mit.edu	37	chr5	169533255	169533255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggccgctgctgcccagCgtgtcggggcttggggggag	20	11	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:169533255C>T	ENST00000306268.6	+	1	355	c.294C>T	c.(292-294)agC>agT	p.S98S	FOXI1_ENST00000449804.2_Silent_p.S98S			Q12951	FOXI1_HUMAN	forkhead box I1	98					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)			TGCTGCCCAGCGTGTCGGGGC	0.697									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(292-294)agC>agT		forkhead box I1							10	9	9					5																	169533255		2188	4264	6452	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533255C>T	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.294C>T	5.37:g.169533255C>T						FOXI1_ENST00000306268.6_Silent_p.S98S	p.S98S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	339	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	98					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.294C>T	CCDS4372.1																																																																																				0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		5	9	0	0	0	1	0	5	9					T	169533255	C	T	169533255	2	4	494	1	0	0	0	0	0	0	0	1	6009	767	27	1		1	FOXI1	5	169533255	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	19741044	169533255	11382005	28	39841											
DUSP22	56940	broad.mit.edu	37	chr6	348207	348207	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caccgtgcgtgctgggagatCctgtgccaaccccaacgtgg	13	14	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348207C>G	ENST00000344450.5	+	6	811	c.368C>G	c.(367-369)tCc>tGc	p.S123C	DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000604971.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	123	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCTGGGAGATCCTGTGCCAAC	0.577																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(58-60)tCc>tGc		dual specificity phosphatase 22							149	133	138					6																	348207		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348207C>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.368C>G	6.37:g.348207C>G	ENSP00000345281:p.Ser123Cys					DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123C	p.S20C			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1172	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	123					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.59C>G	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.219676|5.219676	0.95139|0.95139	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000419235|ENST00000344450	.|T	.|0.61158	.|0.13	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.071811	.|0.64402	.|D	.|0.000012	T|T	0.79009|0.79009	0.4374|0.4374	M|M	0.90145|0.90145	3.09|3.09	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D	.|0.76494	.|0.996;0.999;0.999	.|P;D;D	.|0.70227	.|0.852;0.968;0.968	T|T	0.82172|0.82172	-0.0589|-0.0589	5|10	.|0.72032	.|D	.|0.01	.|.	20.0852|20.0852	0.97797|0.97797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|123;80;123	.|Q9NRW4-2;B3KSA8;Q9NRW4	.|.;.;DUS22_HUMAN	M|C	60|123	.|ENSP00000345281:S123C	.|ENSP00000345281:S123C	I|S	+|+	3|2	3|0	DUSP22|DUSP22	293207|293207	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.982000|0.982000	0.71751|0.71751	7.770000|7.770000	0.85390|0.85390	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	ATC|TCC		0.577	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		11	267	0	0	0	1	0	11	267					G	348207	C	G	348207	3	3	494	1	0	0	0	0	1	0	0	0	4821	855	30	4	390	4	DUSP22	6	348207	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		348207	170766860	29	39842			1	54		2	2	14	C		3.779398e-05
DUSP22	56940	broad.mit.edu	37	chr6	348220	348220	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggagatcctgtgccaacccCaacgtgggcttccagagaca	12	13	0	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348220C>G	ENST00000344450.5	+	6	824	c.381C>G	c.(379-381)ccC>ccG	p.P127P	DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000604971.1_Silent_p.P24P|DUSP22_ENST00000605035.1_Silent_p.P24P|DUSP22_ENST00000603453.1_Silent_p.P24P	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	127	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTGCCAACCCCAACGTGGGCT	0.577																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(70-72)ccC>ccG		dual specificity phosphatase 22							136	123	127					6																	348220		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348220C>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.381C>G	6.37:g.348220C>G						DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605035.1_Silent_p.P24P|DUSP22_ENST00000603453.1_Silent_p.P24P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000344450.5_Silent_p.P127P	p.P24P			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1185	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	127					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.72C>G	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382835	0.25031	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	2.91	0.33838	.	.	.	.	.	T	0.35998	0.0951	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20907	-1.0261	4	.	.	.	.	4.6619	0.12646	0.4083:0.3669:0.0:0.2248	.	.	.	.	E	65	.	.	Q	+	1	0	DUSP22	293220	0.968000	0.33430	1.000000	0.80357	0.991000	0.79684	0.171000	0.16685	0.301000	0.22738	-0.345000	0.07892	CAA		0.577	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		7	235	0	0	0	1	0	7	235					G	348220	C	G	348220	2	3	494	1	0	0	0	0	0	0	0	1	4821	581	21	4		4	DUSP22	6	348220	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	13	348220	170766847	30	39843			1	54		2	2	14	C		3.779398e-05
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273310	26273310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagcgcagccgcaaggAgagctattccgtgtacgtgt	14	11	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:26273310A>C	ENST00000377733.2	+	1	167	c.107A>C	c.(106-108)gAg>gCg	p.E36A	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	36					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGCCGCAAGGAGAGCTATTCC	0.577																																						ENST00000377733.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(106-108)gAg>gCg		histone cluster 1, H2bi							225	209	215					6																	26273310		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273310A>C	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.107A>C	6.37:g.26273310A>C	ENSP00000366962:p.Glu36Ala						p.E36A	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN			1	167	+			36					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.107A>C	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	19.32	3.804824	0.70682	.	.	ENSG00000168242	ENST00000377733	T	0.23552	1.9	4.5	4.5	0.54988	.	.	.	.	.	T	0.54549	0.1865	H	0.98111	4.15	0.31573	N	0.65605	.	.	.	.	.	.	T	0.69091	-0.5237	7	0.66056	D	0.02	.	12.6757	0.56893	1.0:0.0:0.0:0.0	.	.	.	.	A	36	ENSP00000366962:E36A	ENSP00000366962:E36A	E	+	2	0	HIST1H2BI	26381289	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.100000	0.71473	1.674000	0.50907	0.460000	0.39030	GAG		0.577	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		23	518	0	0	0	1	0	23	518					C	26273310	A	C	26273310	3	2	494	1	0	0	0	0	1	0	0	0	7148	304	11	5	109	5	HIST1H2BI	6	26273310	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	25925090	26273310	144841757	31	39844											
ZNF184	7738	broad.mit.edu	37	chr6	27419434	27419434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggtttttcttctgtgtgaGttttttgatgttgagcaaga	12	3	2	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:27419434G>C	ENST00000211936.6	-	6	2188	c.1904C>G	c.(1903-1905)aCt>aGt	p.T635S	ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					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						TTCTGTGTGAGTTTTTTGATG	0.423																																						ENST00000211936.6																			0				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						c.(1903-1905)aCt>aGt		zinc finger protein 184							129	127	128					6																	27419434		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419434G>C	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.1904C>G	6.37:g.27419434G>C	ENSP00000211936:p.Thr635Ser					ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2188	-			635					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1904C>G	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942748	0.53079	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07567	3.18;3.18	5.18	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.01695	0.0054	N	0.17594	0.5	0.29017	N	0.886501	B	0.27192	0.171	B	0.16289	0.015	T	0.40924	-0.9537	10	0.54805	T	0.06	.	6.2064	0.20606	0.1963:0.0:0.8037:0.0	.	635	Q99676	ZN184_HUMAN	S	635;635;551	ENSP00000211936:T635S;ENSP00000366636:T635S	ENSP00000211936:T635S	T	-	2	0	ZNF184	27527413	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.877000	0.28106	2.696000	0.92011	0.591000	0.81541	ACT		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		10	236	0	0	0	1	0	10	236					C	27419434	G	C	27419434	3	2	494	1	0	0	0	0	1	0	0	0	17748	1029	36	4	355	4	ZNF184	6	27419434	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	1146124	27419434	143695633	32	39845											
ME1	4199	broad.mit.edu	37	chr6	84025055	84025055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaactgcctccatgaattcGtccaaaaaatcatcatattc	4	11	2	1	rs186078215		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:84025055G>A	ENST00000369705.3	-	6	794	c.678C>T	c.(676-678)gaC>gaT	p.D226D	ME1_ENST00000541327.1_Silent_p.D60D|ME1_ENST00000543031.1_Silent_p.D151D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	226					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.D226D(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CCATGAATTCGTCCAAAAAAT	0.303													G|||	1	0.000199681	0.0	0.0	5008	,	,		15356	0.001		0.0	False		,,,				2504	0.0					ENST00000369705.3																			1	Substitution - coding silent(1)	p.D226D(1)	prostate(1)	NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(676-678)gaC>gaT		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)	G		0,4406		0,0,2203	109	111	110		678	1.8	1	6		110	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ME1	NM_002395.4		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		226/573	84025055	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84025055G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.678C>T	6.37:g.84025055G>A						ME1_ENST00000543031.1_Silent_p.D151D|ME1_ENST00000541327.1_Silent_p.D60D	p.D226D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	6	794	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	226					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	c.678C>T	CCDS34492.1																																																																																				0.303	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			14	178	0	0	0	1	0	14	178					A	84025055	G	A	84025055	2	1	494	1	0	0	0	0	0	0	0	1	9417	1136	40	1		1	ME1	6	84025055	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	56605621	84025055	87090012	33	39846											
AKD1	221264	broad.mit.edu	37	chr6	109854627	109854627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgatctcccaaaaactgggCctcttctggatatcgtggga	10	11	3	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:109854627C>T	ENST00000424296.2	-	28	3473	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T	AK9_ENST00000341338.6_Missense_Mutation_p.A212T|AK9_ENST00000355283.1_Missense_Mutation_p.A212T	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1133	Adenylate kinase 2.|LID 2. {ECO:0000250}.				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)										AAAAACTGGGCCTCTTCTGGA	0.363																																						ENST00000424296.2																			0											c.(3397-3399)Gcc>Acc		adenylate kinase 9							67	65	66					6																	109854627		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109854627C>T	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.3397G>A	6.37:g.109854627C>T	ENSP00000410186:p.Ala1133Thr					AK9_ENST00000355283.1_Missense_Mutation_p.A212T|AK9_ENST00000341338.6_Missense_Mutation_p.A212T	p.A1133T	NM_001145128.2	NP_001138600.2					28	3473	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3397G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732200	0.30684	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.81415	-1.49;-1.49;-1.49	5.29	4.42	0.53409	ATPase, AAA+ type, core (1);	0.637913	0.16504	N	0.211524	T	0.68952	0.3057	M	0.85197	2.74	0.21064	N	0.999797	B;B	0.28850	0.225;0.17	B;B	0.26517	0.07;0.047	T	0.64470	-0.6400	9	.	.	.	.	8.9782	0.35948	0.0:0.7762:0.0:0.2238	.	212;1133	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	T	1133;212;212	ENSP00000410186:A1133T;ENSP00000347431:A212T;ENSP00000344637:A212T	.	A	-	1	0	AKD1	109961320	1.000000	0.71417	0.643000	0.29450	0.362000	0.29581	2.153000	0.42282	1.376000	0.46267	0.643000	0.83706	GCC		0.363	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		7	145	0	0	0	1	0	7	145					T	109854627	C	T	109854627	3	4	494	1	0	0	0	0	1	0	0	0	460	739	26	2	2394	2	AKD1	6	109854627	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	25829572	109854627	61260440	34	39847											
TULP4	56995	broad.mit.edu	37	chr6	158870156	158870156	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactacccgatcttcctggtGgaggacagcagcgagagcga	13	11	1	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:158870156G>T	ENST00000367097.3	+	4	2029	c.672G>T	c.(670-672)gtG>gtT	p.V224V	TULP4_ENST00000367094.2_Silent_p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	224					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCTTCCTGGTGGAGGACAGCA	0.567																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(670-672)gtG>gtT		tubby like protein 4							186	143	158					6																	158870156		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158870156G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.672G>T	6.37:g.158870156G>T						TULP4_ENST00000367094.2_Silent_p.V224V	p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	4	2029	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	224					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.672G>T	CCDS34561.1																																																																																				0.567	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		23	117	1	0	7.87624e-14	1	8.33505e-14	23	117					T	158870156	G	T	158870156	2	4	494	1	0	0	0	0	0	0	0	1	16773	1335	47	4		4	TULP4	6	158870156	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	49015529	158870156	12244911	35	39848											
CCR6	1235	broad.mit.edu	37	chr6	167550390	167550390	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gagctactctttggtttcttTatccctttgatgttcatgat	7	8	3	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:167550390T>A	ENST00000341935.5	+	3	1224	c.672T>A	c.(670-672)ttT>ttA	p.F224L	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L|CCR6_ENST00000349984.4_Missense_Mutation_p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	224					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TTGGTTTCTTTATCCCTTTGA	0.458																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(670-672)ttT>ttA		chemokine (C-C motif) receptor 6							133	114	121					6																	167550390		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550390T>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.672T>A	6.37:g.167550390T>A	ENSP00000343952:p.Phe224Leu					CCR6_ENST00000349984.4_Missense_Mutation_p.F224L|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L	p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1224	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	224					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.672T>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	T	1.964	-0.438207	0.04636	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.70164	-0.46;-0.46;-0.46	5.09	-3.98	0.04082	GPCR, rhodopsin-like superfamily (1);	0.238139	0.34906	U	0.003584	T	0.30135	0.0755	L	0.31664	0.95	0.40914	D	0.98425	B	0.23806	0.091	B	0.35688	0.208	T	0.07635	-1.0762	10	0.14252	T	0.57	.	8.1853	0.31335	0.0:0.1683:0.1364:0.6953	.	224	P51684	CCR6_HUMAN	L	224	ENSP00000383715:F224L;ENSP00000343952:F224L;ENSP00000339393:F224L	ENSP00000343952:F224L	F	+	3	2	CCR6	167470380	0.083000	0.21467	0.202000	0.23494	0.042000	0.13812	-0.181000	0.09740	-0.638000	0.05509	-0.904000	0.02843	TTT		0.458	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			4	198	0	0	0	1	0	4	198					A	167550390	T	A	167550390	3	1	494	1	0	0	0	0	1	0	0	0	2945	1751	61	5	678	5	CCR6	6	167550390	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	8680234	167550390	3564677	36	39849											
MLLT4	4301	broad.mit.edu	37	chr6	168311815	168311815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcctgagctgatactaCctgcaagcattgaattcagg	11	10	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:168311815C>T	ENST00000447894.2	+	14	1804	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S|MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000366806.2_Missense_Mutation_p.P602S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	602					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)		GCTGATACTACCTGCAAGCAT	0.368			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				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						c.(1804-1806)Cct>Tct		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							149	148	148					6																	168311815		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168311815C>T	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.1804C>T	6.37:g.168311815C>T	ENSP00000404595:p.Pro602Ser					MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000447894.2_Missense_Mutation_p.P602S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S	p.P602S			P55196	AFAD_HUMAN		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)	14	1946	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	602					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.1804C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973720|3.973720	0.74246|0.74246	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.06068|.	3.53;3.54;3.53;3.53;3.35;3.42;3.42|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68357|0.68357	0.2992|0.2992	M|M	0.83012|0.83012	2.62|2.62	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;0.999;1.0;0.999|.	T|T	0.72513|0.72513	-0.4270|-0.4270	10|5	0.87932|.	D|.	0|.	-21.5921|-21.5921	9.9085|9.9085	0.41390|0.41390	0.0:0.7864:0.139:0.0746|0.0:0.7864:0.139:0.0746	.|.	300;601;602;586|.	Q96C95;P55196-5;P55196-6;P55196-2|.	.;.;.;.|.	S|I	602;602;602;602;586;602;601;602|300	ENSP00000341118:P602S;ENSP00000252692:P602S;ENSP00000375956:P602S;ENSP00000355771:P602S;ENSP00000375960:P586S;ENSP00000383623:P601S;ENSP00000404595:P602S|.	ENSP00000345834:P602S|.	P|T	+|+	1|2	0|0	MLLT4|MLLT4	168054664|168054664	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.947000|0.947000	0.59692|0.59692	5.217000|5.217000	0.65252|0.65252	2.489000|2.489000	0.83994|0.83994	0.591000|0.591000	0.81541|0.81541	CCT|ACC		0.368	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		36	131	0	0	0	1	0	36	131					T	168311815	C	T	168311815	3	4	494	1	0	0	0	0	1	0	0	0	9629	507	18	2	1858	2	MLLT4	6	168311815	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	761425	168311815	2803252	37	39850											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517828	113517828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctcttcccaggatagccAggacaatgacaaaacgtaga	8	12	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr7:113517828A>G	ENST00000284601.3	-	4	3387	c.3319T>C	c.(3319-3321)Tgg>Cgg	p.W1107R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1107					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						CAGGATAGCCAGGACAATGAC	0.348																																						ENST00000284601.3																			0				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						c.(3319-3321)Tgg>Cgg		protein phosphatase 1, regulatory subunit 3A							88	89	89					7																	113517828		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113517828A>G	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.3319T>C	7.37:g.113517828A>G	ENSP00000284601:p.Trp1107Arg						p.W1107R	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3387	-			1107					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3319T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170250	0.57584	.	.	ENSG00000154415	ENST00000284601	T	0.34072	1.38	5.85	5.85	0.93711	.	0.117279	0.36482	N	0.002571	T	0.60340	0.2261	M	0.71581	2.175	0.44417	D	0.997333	D	0.89917	1.0	D	0.73380	0.98	T	0.63963	-0.6518	10	0.87932	D	0	-4.1681	16.2378	0.82389	1.0:0.0:0.0:0.0	.	1107	Q16821	PPR3A_HUMAN	R	1107	ENSP00000284601:W1107R	ENSP00000284601:W1107R	W	-	1	0	PPP1R3A	113305064	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.120000	0.71596	2.228000	0.72767	0.528000	0.53228	TGG		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	238	0	0	0	1	0	12	238					G	113517828	A	G	113517828	3	3	494	1	0	0	0	0	1	0	0	0	12371	188	7	3	53	3	PPP1R3A	7	113517828	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		113517828	45620835	38	39851											
EYA1	2138	broad.mit.edu	37	chr8	72127635	72127635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctcacctattttagttgcActgtaaatattttctattgg	6	7	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:72127635A>G	ENST00000340726.3	-	16	2223	c.1584T>C	c.(1582-1584)agT>agC	p.S528S	EYA1_ENST00000303824.7_Silent_p.S522S|EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000419131.1_Silent_p.S493S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	528					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)			TTTTAGTTGCACTGTAAATAT	0.338																																						ENST00000340726.3																			0				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						c.(1582-1584)agT>agC		eyes absent homolog 1 (Drosophila)							64	67	66					8																	72127635		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72127635A>G	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.1584T>C	8.37:g.72127635A>G						EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000419131.1_Silent_p.S493S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000303824.7_Silent_p.S522S	p.S528S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		16	2223	-	Breast(64;0.046)		528					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.1584T>C	CCDS34906.1																																																																																				0.338	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		15	249	0	0	0	1	0	15	249					G	72127635	A	G	72127635	2	3	494	1	0	0	0	0	0	0	0	1	5328	156	6	3		3	EYA1	8	72127635	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		72127635	74236387	39	39852											
RBM12B	389677	broad.mit.edu	37	chr8	94748551	94748551	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattatatgcactcctccatCaggaatagtcaatcccgtga	6	11	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748551C>G	ENST00000399300.2	-	3	301	c.88G>C	c.(88-90)Gat>Cat	p.D30H	RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	30							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)			ACTCCTCCATCAGGAATAGTC	0.463																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(88-90)Gat>Cat		RNA binding motif protein 12B							75	75	75					8																	94748551		1842	4104	5946	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748551C>G		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.88G>C	8.37:g.94748551C>G	ENSP00000382239:p.Asp30His					RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H|RBM12B_ENST00000520961.1_Intron	p.D30H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	301	-	Breast(36;4.14e-07)		30					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.88G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296212	0.60086	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.16073	3.08;3.08;2.37;2.37;3.08;3.08	5.8	5.8	0.92144	.	0.095631	0.45867	D	0.000334	T	0.44074	0.1276	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20907	-1.0261	10	0.72032	D	0.01	-29.1694	19.681	0.95964	0.0:1.0:0.0:0.0	.	30	Q8IXT5	RB12B_HUMAN	H	30	ENSP00000382239:D30H;ENSP00000427729:D30H;ENSP00000430474:D30H;ENSP00000428269:D30H;ENSP00000429807:D30H;ENSP00000430466:D30H	ENSP00000382239:D30H	D	-	1	0	RBM12B	94817727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.770000	0.68873	2.744000	0.94065	0.655000	0.94253	GAT		0.463	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		11	301	0	0	0	1	0	11	301					G	94748551	C	G	94748551	3	3	494	1	0	0	0	0	1	0	0	0	13114	826	29	4	2921	4	RBM12B	8	94748551	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	22620916	94748551	51615471	40	39853											
RBM12B	389677	broad.mit.edu	37	chr8	94748587	94748587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgaagaagtgacgaatatCcacaggccccgcaataaaag	10	10	0	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748587C>T	ENST00000399300.2	-	3	265	c.52G>A	c.(52-54)Gat>Aat	p.D18N	RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	18							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)			TGACGAATATCCACAGGCCCC	0.448																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(52-54)Gat>Aat		RNA binding motif protein 12B							60	60	60					8																	94748587		1876	4119	5995	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748587C>T		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.52G>A	8.37:g.94748587C>T	ENSP00000382239:p.Asp18Asn					RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N|RBM12B_ENST00000520961.1_Intron	p.D18N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	265	-	Breast(36;4.14e-07)		18					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.52G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963757	0.74016	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	T;T;T;T;T;T	0.22945	2.7;2.7;1.95;1.93;2.7;2.7	5.8	4.9	0.64082	.	0.095587	0.45867	N	0.000336	T	0.60038	0.2238	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70806	-0.4772	10	0.87932	D	0	-22.797	13.7103	0.62665	0.0:0.9225:0.0:0.0775	.	18	Q8IXT5	RB12B_HUMAN	N	18	ENSP00000382239:D18N;ENSP00000427729:D18N;ENSP00000430474:D18N;ENSP00000428269:D18N;ENSP00000429807:D18N;ENSP00000430466:D18N	ENSP00000382239:D18N	D	-	1	0	RBM12B	94817763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.783000	0.68982	1.392000	0.46585	0.655000	0.94253	GAT		0.448	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		7	245	0	0	0	1	0	7	245					T	94748587	C	T	94748587	3	4	494	1	0	0	0	0	1	0	0	0	13114	855	30	2	2957	2	RBM12B	8	94748587	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	36	94748587	51615435	41	39854											
CSMD3	114788	broad.mit.edu	37	chr8	113241120	113241120	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aaccttctgacatattcagtCctacaaaataaaaaataaat	2	8	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:113241120C>G	ENST00000297405.5	-	70	11073	c.10829G>C	c.(10828-10830)gGa>gCa	p.G3610A	CSMD3_ENST00000352409.3_Splice_Site_p.G3540A|CSMD3_ENST00000455883.2_Splice_Site_p.G3441A|CSMD3_ENST00000343508.3_Splice_Site_p.G3570A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						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						CATATTCAGTCCTACaaaata	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.e70-1		CUB and Sushi multiple domains 3							43	45	44					8																	113241120		2203	4298	6501	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113241120C>G	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.10829-1G>C	8.37:g.113241120C>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.G3540_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3570_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3441_splice	p.G3610_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11073	-			3610					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10828_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345397	0.61073	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	2.16;2.16;2.18;1.86;2.18	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.47600	0.1454	L	0.56769	1.78	0.58432	D	0.999999	P;P;D	0.62365	0.899;0.926;0.991	P;B;P	0.61201	0.549;0.421;0.885	T	0.32929	-0.9888	10	0.59425	D	0.04	.	20.0345	0.97552	0.0:1.0:0.0:0.0	.	3441;3610;3570	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3570;3610;2880;3441;3540	ENSP00000345799:G3570A;ENSP00000297405:G3610A;ENSP00000341558:G2880A;ENSP00000412263:G3441A;ENSP00000343124:G3540A	ENSP00000297405:G3610A	G	-	2	0	CSMD3	113310296	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.414000	0.80117	2.797000	0.96272	0.655000	0.94253	GGA		0.279	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	11	97	0	0	0	1	0	11	97					G	113241120	C	G	113241120	5	3	494	1	0	0	0	0	0	0	1	0	3946	869	30	4	302	4	CSMD3	8	113241120	Splice_Site	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	18492533	113241120	33122902	42	39855											
BNC2	54796	broad.mit.edu	37	chr9	16437000	16437000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagagacacaggctggctCggttttgggctccacattag	15	9	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:16437000C>T	ENST00000380672.4	-	6	1249	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	BNC2_ENST00000380667.2_Missense_Mutation_p.E331K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K|BNC2_ENST00000380666.2_Missense_Mutation_p.E398K	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGCTGGCTCGGTTTTGGGC	0.468																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1192-1194)Gag>Aag		basonuclin 2							73	77	76					9																	16437000		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437000C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1192G>A	9.37:g.16437000C>T	ENSP00000370047:p.Glu398Lys					BNC2_ENST00000380666.2_Missense_Mutation_p.E398K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K|BNC2_ENST00000380667.2_Missense_Mutation_p.E331K	p.E398K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1249	-			398						Missense_Mutation	SNP	ENST00000380672.4	37	c.1192G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880553	0.72294	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.36157	1.33;1.27;1.35;1.35;1.27	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.978;0.987;0.984;0.995;0.978;0.978;0.992;0.992	D;B;P;P;P;B;B;P;B	0.69824	0.966;0.197;0.597;0.569;0.613;0.3;0.3;0.51;0.409	T	0.31530	-0.9940	10	0.21014	T	0.42	-22.952	20.4082	0.99013	0.0:1.0:0.0:0.0	.	303;331;398;224;398;355;398;303;163	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	398;355;331;303;224;398;398	ENSP00000370047:E398K;ENSP00000408370:E355K;ENSP00000370042:E331K;ENSP00000444640:E303K;ENSP00000370041:E398K	ENSP00000370041:E398K	E	-	1	0	BNC2	16427000	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.996000	0.70639	2.814000	0.96858	0.655000	0.94253	GAG		0.468	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		40	62	0	0	0	1	0	40	62					T	16437000	C	T	16437000	3	4	494	1	0	0	0	0	1	0	0	0	1475	893	31	1	2115	1	BNC2	9	16437000	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		16437000	124776431	43	39856											
IARS	3376	broad.mit.edu	37	chr9	95033878	95033878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgaagcatccacaggGcaaacagggagtgagtcttt	12	10	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:95033878G>A	ENST00000375643.3	-	11	1316	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	350					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATCCACAGGGCAAACAGGGA	0.448																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1048-1050)tgC>tgT		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						132	121	124					9																	95033878		2203	4300	6503	SO:0001819	synonymous_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95033878G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1050C>T	9.37:g.95033878G>A						IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	p.C350C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			11	1316	-			350					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.1050C>T	CCDS6694.1																																																																																				0.448	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		4	187	0	0	0	1	0	4	187					A	95033878	G	A	95033878	2	1	494	1	0	0	0	0	0	0	0	1	7473	1195	42	2		2	IARS	9	95033878	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	78596878	95033878	46179553	44	39857											
LCN2	3934	broad.mit.edu	37	chr9	130912582	130912582	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagaagacaaagacccGcaaaagatgtatgccaccat	8	11	1	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:130912582G>A	ENST00000373017.1	+	3	441	c.204G>A	c.(202-204)ccG>ccA	p.P68P	LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000540948.1_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000277480.2_Silent_p.P68P			P80188	NGAL_HUMAN	lipocalin 2	68					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						ACAAAGACCCGCAAAAGATGT	0.512																																						ENST00000540948.1																			0				central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(202-204)ccG>ccA		lipocalin 2							168	144	152					9																	130912582		2203	4300	6503	SO:0001819	synonymous_variant	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130912582G>A		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"Lipocalins"	6526	protein-coding gene	gene with protein product	"oncogene 24p3", "neutrophil gelatinase-associated lipocalin", "siderocalin"	600181	"lipocalin 2 (oncogene 24p3)"			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.204G>A	9.37:g.130912582G>A						LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000277480.2_Silent_p.P68P|LCN2_ENST00000373017.1_Silent_p.P68P	p.P68P			P80188	NGAL_HUMAN			2	277	+			68					A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Silent	SNP	ENST00000373017.1	37	c.204G>A	CCDS6892.1																																																																																				0.512	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		4	181	0	0	0	1	0	4	181					A	130912582	G	A	130912582	2	1	494	1	0	0	0	0	0	0	0	1	8684	1074	38	1		1	LCN2	9	130912582	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	35878704	130912582	10300849	45	39858											
FAM171A1	221061	broad.mit.edu	37	chr10	15255635	15255635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccactcccgggtgcccGcatcctgcaggtgctgctga	13	16	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:15255635G>A	ENST00000378116.4	-	8	1958	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						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						CCGGGTGCCCGCATCCTGCAG	0.622																																						ENST00000378116.4																			0				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						c.(1951-1953)gCg>gTg		family with sequence similarity 171, member A1							46	53	51					10																	15255635		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255635G>A	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.1952C>T	10.37:g.15255635G>A	ENSP00000367356:p.Ala651Val						p.A651V	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1958	-			651					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.1952C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368571	0.24771	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.33654	1.4	5.25	4.35	0.52113	.	0.169721	0.52532	D	0.000078	T	0.29976	0.0750	L	0.44542	1.39	0.33872	D	0.635092	B	0.13594	0.008	B	0.08055	0.003	T	0.39210	-0.9625	10	0.62326	D	0.03	-6.6507	9.8	0.40759	0.0734:0.1391:0.7875:0.0	.	651	Q5VUB5	F1711_HUMAN	V	651;650	ENSP00000367356:A651V	ENSP00000367356:A651V	A	-	2	0	FAM171A1	15295641	0.666000	0.27475	0.012000	0.15200	0.228000	0.25075	3.096000	0.50243	1.441000	0.47550	0.563000	0.77884	GCG		0.622	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		4	168	0	0	0	1	0	4	168					A	15255635	G	A	15255635	3	1	494	1	0	0	0	0	1	0	0	0	5490	1087	38	1	724	1	FAM171A1	10	15255635	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		15255635	120279112	46	39859											
CCDC6	8030	broad.mit.edu	37	chr10	61564269	61564269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccttgtgcagacatctcAttaaaatacctaagaggaga	7	8	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:61564269A>C	ENST00000263102.6	-	7	1245	c.1014T>G	c.(1012-1014)aaT>aaG	p.N338K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	338						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGACATCTCATTAAAATACC	0.448			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1012-1014)aaT>aaG		coiled-coil domain containing 6							114	106	109					10																	61564269		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61564269A>C	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1014T>G	10.37:g.61564269A>C	ENSP00000263102:p.Asn338Lys						p.N338K	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	7	1245	-			338					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1014T>G	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008340	0.75046	.	.	ENSG00000108091	ENST00000263102	T	0.53857	0.6	5.47	-9.01	0.00744	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	M	0.61703	1.905	0.58432	D	0.999996	D	0.62365	0.991	D	0.76575	0.988	T	0.77920	-0.2407	10	0.66056	D	0.02	-16.3082	20.9343	0.99941	0.8765:0.0:0.1235:0.0	.	338	Q16204	CCDC6_HUMAN	K	338	ENSP00000263102:N338K	ENSP00000263102:N338K	N	-	3	2	CCDC6	61234275	0.321000	0.24625	0.709000	0.30452	0.994000	0.84299	-0.185000	0.09684	-1.786000	0.01269	-0.250000	0.11733	AAT		0.448	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		34	59	0	0	0	1	0	34	59					C	61564269	A	C	61564269	3	2	494	1	0	0	0	0	1	0	0	0	2830	214	8	5	422	5	CCDC6	10	61564269	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	46308634	61564269	73970478	47	39860											
HKDC1	80201	broad.mit.edu	37	chr10	71008233	71008233	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggtcccaagctgtgatgTccgcttcctcctgtcagaga	10	13	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:71008233T>A	ENST00000354624.5	+	10	1452	c.1319T>A	c.(1318-1320)gTc>gAc	p.V440D	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	440	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)	p.V440fs*51(1)		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						AGCTGTGATGTCCGCTTCCTC	0.597																																						ENST00000354624.5																			1	Deletion - Frameshift(1)	p.V440fs*51(1)	ovary(1)	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						c.(1318-1320)gTc>gAc		hexokinase domain containing 1							56	56	56					10																	71008233		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71008233T>A		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.1319T>A	10.37:g.71008233T>A	ENSP00000346643:p.Val440Asp					HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D	p.V440D	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			10	1452	+			440					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1319T>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.758077	0.89843	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97831	-4.56;-4.56	4.92	4.92	0.64577	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.93550	3.43	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.99597	1.0977	10	0.87932	D	0	-32.3789	14.7106	0.69229	0.0:0.0:0.0:1.0	.	440	Q2TB90	HKDC1_HUMAN	D	440	ENSP00000346643:V440D;ENSP00000378521:V440D	ENSP00000346643:V440D	V	+	2	0	HKDC1	70678239	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.831000	0.86748	2.061000	0.61500	0.460000	0.39030	GTC		0.597	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		11	181	0	0	0	1	0	11	181					A	71008233	T	A	71008233	3	1	494	1	0	0	0	0	1	0	0	0	7193	1667	58	5	1357	5	HKDC1	10	71008233	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	9443964	71008233	64526514	48	39861											
KIAA1274	27143	broad.mit.edu	37	chr10	72298051	72298051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtacccgctggcctttGccctcagtttcagccgctgg	11	15	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:72298051G>A	ENST00000263563.6	+	12	1607	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	447						cytosol (GO:0005829)											GCTGGCCTTTGCCCTCAGTTT	0.667																																						ENST00000263563.6																			0											c.(1339-1341)Gcc>Acc		phosphatase domain containing, paladin 1							55	47	50					10																	72298051		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72298051G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1339G>A	10.37:g.72298051G>A	ENSP00000263563:p.Ala447Thr						p.A447T	NM_014431.2	NP_055246.2					12	1607	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1339G>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.815057	0.90790	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.23552	1.9	4.31	4.31	0.51392	.	0.182499	0.47455	D	0.000232	T	0.37839	0.1018	M	0.76574	2.34	0.54753	D	0.999981	P	0.50443	0.935	P	0.47402	0.546	T	0.34354	-0.9832	10	0.36615	T	0.2	-25.6841	16.5809	0.84714	0.0:0.0:1.0:0.0	.	447	Q9ULE6	PALD_HUMAN	T	447	ENSP00000263563:A447T	ENSP00000263563:A447T	A	+	1	0	KIAA1274	71968057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.715000	0.74697	2.221000	0.72209	0.561000	0.74099	GCC		0.667	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		9	95	0	0	0	1	0	9	95					A	72298051	G	A	72298051	3	1	494	1	0	0	0	0	1	0	0	0	8220	1319	46	2	1381	2	KIAA1274	10	72298051	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	1289818	72298051	63236696	49	39862											
KCNMA1	3778	broad.mit.edu	37	chr10	78649254	78649254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtgagcatctctcagcCggtaaattccaaaacaaagc	9	10	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:78649254C>T	ENST00000286628.8	-	27	3415	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q	KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1139					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)	ATCTCTCAGCCGGTAAATTCC	0.438																																						ENST00000286627.5																			0				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						c.(3241-3243)cGg>cAg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						87	86	86					10																	78649254		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78649254C>T	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.3416G>A	10.37:g.78649254C>T	ENSP00000286628:p.Arg1139Gln					RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q	p.R1081Q	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		26	4194	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1139					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3242G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.700521|5.700521	0.96802|0.96802	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.92048	.|-2.87;-2.84;-2.92;-2.94;-2.92;-2.84;-2.96;-2.95;-2.84	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96244|0.96244	0.8775|0.8775	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|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	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.997;0.997;0.999;0.999;1.0;0.999;1.0;0.999	D|D	0.95714|0.95714	0.8760|0.8760	5|10	.|0.87932	.|D	.|0	-12.2875|-12.2875	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1110;1111;1122;1139;1081;892;1142;1108	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	S|Q	1032|1081;1018;1074;1113;1076;1108;1081;1113;1143;1142;1122;892	.|ENSP00000361517:R1081Q;ENSP00000361485:R1018Q;ENSP00000361514:R1074Q;ENSP00000396608:R1113Q;ENSP00000361520:R1108Q;ENSP00000286627:R1081Q;ENSP00000385552:R1143Q;ENSP00000346321:R1142Q;ENSP00000385806:R1122Q	.|ENSP00000286627:R1081Q	G|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78319260|78319260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		8	168	0	0	0	1	0	8	168					T	78649254	C	T	78649254	3	4	494	1	0	0	0	0	1	0	0	0	8073	652	23	1	331	1	KCNMA1	10	78649254	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	6351203	78649254	56885493	50	39863											
SLK	9748	broad.mit.edu	37	chr10	105780333	105780333	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcgagatcttcagttgCagtgtgaagccaatgtccgc	11	9	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:105780333C>T	ENST00000369755.3	+	17	3954	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1137					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)		TCTTCAGTTGCAGTGTGAAGC	0.458																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3409-3411)Cag>Tag		STE20-like kinase							85	82	83					10																	105780333		2203	4300	6503	SO:0001587	stop_gained	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105780333C>T		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.3409C>T	10.37:g.105780333C>T	ENSP00000358770:p.Gln1137*					SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	p.Q1137*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	3954	+		Colorectal(252;0.178)	1137					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	c.3409C>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	45	11.779639	0.99602	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1138	0.93330	0.0:1.0:0.0:0.0	.	.	.	.	X	1106;1137	.	ENSP00000336824:Q1106X	Q	+	1	0	SLK	105770323	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.818000	0.86416	2.504000	0.84457	0.650000	0.86243	CAG		0.458	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		6	141	0	0	0	1	0	6	141					T	105780333	C	T	105780333	4	4	494	1	0	0	0	0	0	1	0	0	14748	711	25	2	3475	2	SLK	10	105780333	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	27131079	105780333	29754414	51	39864											
BNIP3	664	broad.mit.edu	37	chr10	133787409	133787409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggctggaacgctgccccCgttcccattattgctgaagt	11	13	0	1	rs201439592		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:133787409C>T	ENST00000368636.4	-	2	209	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	BNIP3_ENST00000540159.1_Missense_Mutation_p.G29R	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	29					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACGCTGCCCCCGTTCCCATTA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19971	0.001		0.0	False		,,,				2504	0.0					ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(85-87)Ggg>Agg		BCL2/adenovirus E1B 19kDa interacting protein 3							73	73	73					10																	133787409		2203	4300	6503	SO:0001583	missense	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133787409C>T	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.85G>A	10.37:g.133787409C>T	ENSP00000357625:p.Gly29Arg					BNIP3_ENST00000368636.4_Missense_Mutation_p.G29R	p.G29R			Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	201	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	29					O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	37	c.85G>A	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.448128	0.26074	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.89	2.98	0.34508	.	0.501656	0.21357	N	0.075865	T	0.33527	0.0866	L	0.41906	1.305	0.23542	N	0.997458	D	0.64830	0.994	P	0.52627	0.704	T	0.09530	-1.0670	9	0.18276	T	0.48	-28.106	6.7076	0.23260	0.1747:0.731:0.0:0.0943	.	29	Q12983	BNIP3_HUMAN	R	29	.	ENSP00000357625:G29R	G	-	1	0	BNIP3	133637399	0.040000	0.19996	0.011000	0.14972	0.012000	0.07955	1.308000	0.33528	0.933000	0.37291	0.655000	0.94253	GGG		0.507	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1			12	254	0	0	0	1	0	12	254					T	133787409	C	T	133787409	3	4	494	1	0	0	0	0	1	0	0	0	1478	652	23	1	519	1	BNIP3	10	133787409	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	28007076	133787409	1747338	52	39865											
PLAC1L	219990	broad.mit.edu	37	chr11	59807955	59807955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttagaagtcttgatgcTcctcgctgtcttgatttgga	12	8	2	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:59807955T>C	ENST00000278855.2	+	1	208	c.23T>C	c.(22-24)cTc>cCc	p.L8P	PLAC1L_ENST00000532905.1_5'Flank	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		8						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GTCTTGATGCTCCTCGCTGTC	0.458																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(22-24)cTc>cCc									208	176	187					11																	59807955		2201	4295	6496	SO:0001583	missense	0					extracellular region		g.chr11:59807955T>C																												ENST00000278855.2:c.23T>C	11.37:g.59807955T>C	ENSP00000278855:p.Leu8Pro						p.L8P	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			1	208	+			8					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.23T>C	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249473	0.22880	.	.	ENSG00000149507	ENST00000278855	.	.	.	3.5	2.32	0.28847	.	1.065900	0.07481	N	0.903892	T	0.49372	0.1553	L	0.48642	1.525	0.26884	N	0.967481	D	0.58620	0.983	P	0.57468	0.821	T	0.32107	-0.9919	9	0.54805	T	0.06	-0.141	5.7881	0.18345	0.2495:0.0:0.0:0.7505	.	8	Q86WS3	PLACL_HUMAN	P	8	.	ENSP00000278855:L8P	L	+	2	0	PLAC1L	59564531	0.033000	0.19621	0.345000	0.25642	0.003000	0.03518	1.280000	0.33202	0.647000	0.30713	0.460000	0.39030	CTC		0.458	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			98	206	0	0	0	1	0	98	206					C	59807955	T	C	59807955	3	2	494	1	0	0	0	0	1	0	0	0	12013	1551	54	3	25	3	PLAC1L	11	59807955	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		59807955	75198561	53	39866											
INTS4	92105	broad.mit.edu	37	chr11	77649841	77649841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcccccgaactgtaaagttCcttggcacgctcatgtgcag	9	14	1	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:77649841C>G	ENST00000534064.1	-	10	1055	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q|INTS4_ENST00000525931.1_5'Flank	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	341					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTAAAGTTCCTTGGCACGC	0.483																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1021-1023)Gaa>Caa		integrator complex subunit 4							62	62	62					11																	77649841		2200	4290	6490	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77649841C>G	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1021G>C	11.37:g.77649841C>G	ENSP00000434466:p.Glu341Gln					INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q	p.E341Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		10	1055	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		341					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1021G>C	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524283	0.85600	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	D;D	0.85773	-2.03;-2.03	4.17	4.17	0.49024	Armadillo-like helical (1);Armadillo-type fold (1);	0.056526	0.64402	D	0.000002	T	0.81317	0.4797	L	0.61036	1.89	0.80722	D	1	P	0.41673	0.759	B	0.32289	0.143	D	0.84182	0.0440	10	0.48119	T	0.1	-18.5049	16.6644	0.85248	0.0:1.0:0.0:0.0	.	341	Q96HW7	INT4_HUMAN	Q	341;192;341	ENSP00000434466:E341Q;ENSP00000433644:E341Q	ENSP00000346913:E192Q	E	-	1	0	INTS4	77327489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.013000	0.76373	2.140000	0.66376	0.471000	0.43371	GAA		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		11	321	0	0	0	1	0	11	321					G	77649841	C	G	77649841	3	3	494	1	0	0	0	0	1	0	0	0	7780	864	30	4	1926	4	INTS4	11	77649841	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	17841886	77649841	57356675	54	39867											
HEPHL1	341208	broad.mit.edu	37	chr11	93797642	93797642	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgattcagttgacaagaaAgatgctgttttccagaggag	11	7	1	5			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:93797642A>G	ENST00000315765.9	+	4	782	c.774A>G	c.(772-774)aaA>aaG	p.K258K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	258	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGACAAGAAAGATGCTGTTT	0.383																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(772-774)aaA>aaG		hephaestin-like 1							115	103	106					11																	93797642		1870	4100	5970	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93797642A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.774A>G	11.37:g.93797642A>G							p.K258K	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			4	782	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	258			Plastocyanin-like 2.		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.774A>G	CCDS44710.1																																																																																				0.383	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		6	81	0	0	0	1	0	6	81					G	93797642	A	G	93797642	2	3	494	1	0	0	0	0	0	0	0	1	7055	69	3	3		3	HEPHL1	11	93797642	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	16147801	93797642	41208874	55	39868											
CUL5	8065	broad.mit.edu	37	chr11	107944162	107944162	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacttacactatttaatagaTttagtaaactcgtcaaagaa	4	6	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:107944162T>C	ENST00000393094.2	+	10	1667	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	351					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)		ATTTAATAGATTTAGTAAACT	0.269																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1051-1053)Ttt>Ctt		cullin 5							33	36	35					11																	107944162		2199	4263	6462	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107944162T>C	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.1051T>C	11.37:g.107944162T>C	ENSP00000376808:p.Phe351Leu					CUL5_ENST00000531843.1_3'UTR	p.F351L	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		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)	10	1667	+		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)	351					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1051T>C	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	T	32	5.111532	0.94339	.	.	ENSG00000166266	ENST00000393094	T	0.31247	1.5	5.04	5.04	0.67666	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.59247	-0.7490	10	0.72032	D	0.01	-12.1636	14.7723	0.69688	0.0:0.0:0.0:1.0	.	351	Q93034	CUL5_HUMAN	L	351	ENSP00000376808:F351L	ENSP00000376808:F351L	F	+	1	0	CUL5	107449372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	1.896000	0.54893	0.533000	0.62120	TTT		0.269	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			16	153	0	0	0	1	0	16	153					C	107944162	T	C	107944162	3	2	494	1	0	0	0	0	1	0	0	0	4059	1493	52	3	1089	3	CUL5	11	107944162	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	14146520	107944162	27062354	56	39869											
KCNJ8	3764	broad.mit.edu	37	chr12	21919155	21919155	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggggccaccagaaaAatgttattgctctcgattgg	10	8	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:21919155A>T	ENST00000240662.2	-	3	1122	c.777T>A	c.(775-777)atT>atA	p.I259I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	259					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)	CCACCAGAAAAATGTTATTGC	0.493																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(775-777)atT>atA		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						80	76	77					12																	21919155		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21919155A>T	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.777T>A	12.37:g.21919155A>T						RP11-59N23.1_ENST00000542489.1_RNA	p.I259I	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1122	-			259					O00657	Silent	SNP	ENST00000240662.2	37	c.777T>A	CCDS8692.1																																																																																				0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		24	68	0	0	0	1	0	24	68					T	21919155	A	T	21919155	2	4	494	1	0	0	0	0	0	0	0	1	8056	10	1	5		5	KCNJ8	12	21919155	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		21919155	111932740	57	39870											
RDH5	5959	broad.mit.edu	37	chr12	56118162	56118162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacccggacctaaccaagGtgagccgatgcctggagcat	13	12	0	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:56118162G>A	ENST00000257895.5	+	5	942	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	264			V -> G (in RPA; decreased stability).		phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CCTAACCAAGGTGAGCCGATG	0.587											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257895.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12						c.(790-792)Gtg>Atg		retinol dehydrogenase 5 (11-cis/9-cis)	NADH(DB00157)|Vitamin A(DB00162)						148	124	132					12																	56118162		2203	4300	6503	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56118162G>A	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.790G>A	12.37:g.56118162G>A	ENSP00000257895:p.Val264Met		OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN			5	942	+			264					O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.790G>A	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713063	0.89112	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.90676	-2.71;-2.71;-2.71	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98239	1.0487	10	0.87932	D	0	.	15.973	0.80034	0.0:0.0:1.0:0.0	.	264	Q92781	RDH1_HUMAN	M	167;264;264	ENSP00000449927:V167M;ENSP00000257895:V264M;ENSP00000447128:V264M	ENSP00000257895:V264M	V	+	1	0	RDH5	54404429	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.720000	0.98763	2.449000	0.82847	0.561000	0.74099	GTG		0.587	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		8	124	0	0	0	1	0	8	124					A	56118162	G	A	56118162	3	1	494	1	0	0	0	0	1	0	0	0	13195	1261	44	2	804	2	RDH5	12	56118162	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	34199007	56118162	77733733	58	39871											
RAB3IP	117177	broad.mit.edu	37	chr12	70194027	70194027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaattccgattgtggaaGgatgagcccacaatggacag	12	7	0	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:70194027G>A	ENST00000247833.7	+	7	1303	c.927G>A	c.(925-927)aaG>aaA	p.K309K	RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000550536.1_Silent_p.K325K|RAB3IP_ENST00000550847.1_Silent_p.K16K|AC025263.3_ENST00000550437.1_5'Flank|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000553099.1_Silent_p.K103K|RAB3IP_ENST00000551641.1_Silent_p.K103K					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GATTGTGGAAGGATGAGCCCA	0.343																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(973-975)aaG>aaA		RAB3A interacting protein							115	106	109					12																	70194027		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70194027G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.927G>A	12.37:g.70194027G>A						RAB3IP_ENST00000247833.7_Silent_p.K309K|RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000550847.1_Silent_p.K16K|RAB3IP_ENST00000551641.1_Silent_p.K103K|RAB3IP_ENST00000553099.1_Silent_p.K103K	p.K325K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		7	1432	+	Esophageal squamous(21;0.187)		325						Silent	SNP	ENST00000247833.7	37	c.975G>A	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.766|7.766	0.706448|0.706448	0.15239|0.15239	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000550647|ENST00000526994	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	T|T	0.64394|0.64394	0.2594|0.2594	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62393|0.62393	-0.6864|-0.6864	4|4	.|.	.|.	.|.	.|.	12.447|12.447	0.55657|0.55657	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	.|.	.|.	.|.	R|K	199|41	.|.	.|.	G|R	+|+	1|2	0|0	RAB3IP|RAB3IP	68480294|68480294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	4.335000|4.335000	0.59298|0.59298	2.520000|2.520000	0.84964|0.84964	0.305000|0.305000	0.20034|0.20034	GGA|AGG		0.343	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		36	80	0	0	0	1	0	36	80					A	70194027	G	A	70194027	2	1	494	1	0	0	0	0	0	0	0	1	12938	991	35	2		2	RAB3IP	12	70194027	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	14075865	70194027	63657868	59	39872											
DCN	1634	broad.mit.edu	37	chr12	91545525	91545525	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatgaggcgtgttggccagaGagccattgtcaacagcagag	15	8	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:91545525G>C	ENST00000052754.5	-	7	1292	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.S117C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	264					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTGGCCAGAGAGCCATTGTC	0.478																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(790-792)tCt>tGt		decorin							129	101	111					12																	91545525		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91545525G>C	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.791C>G	12.37:g.91545525G>C	ENSP00000052754:p.Ser264Cys					DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000425043.1_Missense_Mutation_p.S117C	p.S264C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			7	1292	-			264					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.791C>G	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041285	0.75732	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	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	5.58	4.67	0.58626	.	0.508219	0.22417	N	0.060336	T	0.72358	0.3450	L	0.53249	1.67	0.40987	D	0.984825	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.76454	-0.2953	10	0.87932	D	0	.	16.0838	0.81023	0.0:0.139:0.861:0.0	.	264;117;155	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	C	264;155;264;117;264;155;117;117	ENSP00000052754:S264C;ENSP00000228329:S155C;ENSP00000376862:S264C;ENSP00000401021:S117C;ENSP00000447654:S264C;ENSP00000413723:S155C;ENSP00000447674:S117C;ENSP00000446530:S117C	ENSP00000052754:S264C	S	-	2	0	DCN	90069656	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	5.504000	0.66968	1.454000	0.47793	0.591000	0.81541	TCT		0.478	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		31	55	0	0	0	1	0	31	55					C	91545525	G	C	91545525	3	2	494	1	0	0	0	0	1	0	0	0	4297	942	33	4	296	4	DCN	12	91545525	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	21351498	91545525	42306370	60	39873											
SSH1	54434	broad.mit.edu	37	chr12	109186453	109186453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagggggggccctaagccgGgctgggcggcatcatccaag	19	11	1	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:109186453G>C	ENST00000326495.5	-	14	1595	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R	SSH1_ENST00000326470.5_Missense_Mutation_p.P512R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R|SSH1_ENST00000551165.1_Missense_Mutation_p.P501R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	501					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)			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						CCCTAAGCCGGGCTGGGCGGC	0.642																																						ENST00000326495.5																			0				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						c.(1501-1503)cCc>cGc		slingshot protein phosphatase 1							26	31	29					12																	109186453		2200	4296	6496	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109186453G>C	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.1502C>G	12.37:g.109186453G>C	ENSP00000315713:p.Pro501Arg					SSH1_ENST00000551165.1_Missense_Mutation_p.P501R|SSH1_ENST00000326470.5_Missense_Mutation_p.P512R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R	p.P501R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			14	1595	-			501					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1502C>G	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	g	10.91	1.485342	0.26686	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.12984	2.84;2.71;2.66;2.63	5.06	3.21	0.36854	.	1.144660	0.06533	N	0.741765	T	0.14013	0.0339	L	0.56769	1.78	0.09310	N	1	B;B;B;P	0.38597	0.012;0.006;0.065;0.639	B;B;B;B	0.30029	0.009;0.016;0.017;0.11	T	0.28427	-1.0044	10	0.36615	T	0.2	-7.8442	8.4109	0.32642	0.0826:0.1546:0.7628:0.0	.	512;501;501;189	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	R	189;501;501;512	ENSP00000353374:P189R;ENSP00000315713:P501R;ENSP00000448824:P501R;ENSP00000326107:P512R	ENSP00000326107:P512R	P	-	2	0	SSH1	107710582	0.549000	0.26481	0.189000	0.23252	0.004000	0.04260	2.777000	0.47717	0.649000	0.30751	0.651000	0.88453	CCC		0.642	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		5	114	0	0	0	1	0	5	114					C	109186453	G	C	109186453	3	2	494	1	0	0	0	0	1	0	0	0	15183	1232	43	4	1841	4	SSH1	12	109186453	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	17640928	109186453	24665442	61	39874											
GTF2H3	2967	broad.mit.edu	37	chr12	124132661	124132661	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgttgaagagattaaagatCtaatgaccaaaagtaacaac	7	5	1	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:124132661C>T	ENST00000543341.2	+	4	383	c.352C>T	c.(352-354)Cta>Tta	p.L118L	GTF2H3_ENST00000228955.7_Silent_p.L77L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	118					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)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GATTAAAGATCTAATGACCAA	0.343								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	ENST00000543341.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10						c.(352-354)Cta>Tta	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 3, 34kDa							49	51	50					12																	124132661		2203	4300	6503	SO:0001819	synonymous_variant	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124132661C>T	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.352C>T	12.37:g.124132661C>T						GTF2H3_ENST00000228955.7_Silent_p.L77L	p.L118L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	4	383	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		118					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP	ENST00000543341.2	37	c.352C>T	CCDS9252.1																																																																																				0.343	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		40	73	0	0	0	1	0	40	73					T	124132661	C	T	124132661	2	4	494	1	0	0	0	0	0	0	0	1	6864	912	32	2		2	GTF2H3	12	124132661	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	14946208	124132661	9719234	62	39875											
RBM26	64062	broad.mit.edu	37	chr13	79940828	79940828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtactgggggcctgagatTcacaggtgggggtgtaagaa	18	5	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:79940828T>C	ENST00000438737.2	-	7	1515	c.1075A>G	c.(1075-1077)Aat>Gat	p.N359D	RBM26_ENST00000438724.1_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Missense_Mutation_p.N359D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	359	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCCTGAGATTCACAGGTGGG	0.542																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1075-1077)Aat>Gat		RNA binding motif protein 26							40	45	43					13																	79940828		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79940828T>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1075A>G	13.37:g.79940828T>C	ENSP00000387531:p.Asn359Asp					RBM26_ENST00000267229.7_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000438724.1_Missense_Mutation_p.N359D	p.N359D			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	7	1515	-		Acute lymphoblastic leukemia(28;0.0279)	359			Pro-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1075A>G		.	.	.	.	.	.	.	.	.	.	T	27.5	4.836569	0.91117	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.46819	0.87;0.86	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.46157	1.445	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.76071	0.987;0.971;0.987	T	0.59521	-0.7439	9	.	.	.	-26.0839	15.8734	0.79141	0.0:0.0:0.0:1.0	.	359;359;359	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	D	359;360;359;359	ENSP00000267229:N359D;ENSP00000390222:N359D	.	N	-	1	0	RBM26	78838829	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.862000	0.69560	2.201000	0.70794	0.533000	0.62120	AAT		0.542	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		4	141	0	0	0	1	0	4	141					C	79940828	T	C	79940828	3	2	494	1	0	0	0	0	1	0	0	0	13126	1783	62	3	1927	3	RBM26	13	79940828	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		79940828	35229050	63	39876											
MCF2L	23263	broad.mit.edu	37	chr13	113742083	113742083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagttcgagatctggtaCaacgcgcgcgaggaggtcta	14	8	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:113742083C>T	ENST00000375608.3	+	24	2806	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000375597.4_Silent_p.Y884Y|MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000397030.1_Silent_p.Y919Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	916	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)				AGATCTGGTACAACGCGCGCG	0.572																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2755-2757)taC>taT		MCF.2 cell line derived transforming sequence-like							204	131	156					13																	113742083		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742083C>T	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.2748C>T	13.37:g.113742083C>T						MCF2L_ENST00000375597.4_Silent_p.Y884Y|MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375608.3_Silent_p.Y916Y	p.Y919Y			O15068	MCF2L_HUMAN			23	2794	+	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)	916			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.2757C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.849|4.849	0.157831|0.157831	0.09236|0.09236	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297|ENST00000413354;ENST00000261963	.|.	.|.	.|.	4.96|4.96	1.36|1.36	0.22044|0.22044	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54464	.|0.1860	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45190	.|-0.9278	.|4	.|.	.|.	.|.	.|.	6.9911|6.9911	0.24755|0.24755	0.0:0.4921:0.0:0.5079|0.0:0.4921:0.0:0.5079	.|.	.|.	.|.	.|.	X|I	547;41|116;57	.|.	.|.	Q|T	+|+	1|2	0|0	MCF2L|MCF2L	112790084|112790084	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.448000|0.448000	0.32197|0.32197	1.441000|1.441000	0.35035|0.35035	0.380000|0.380000	0.24823|0.24823	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.572	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			15	52	0	0	0	1	0	15	52					T	113742083	C	T	113742083	2	4	494	1	0	0	0	0	0	0	0	1	9379	489	17	2		2	MCF2L	13	113742083	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	33801255	113742083	1427795	64	39877											
METTL3	56339	broad.mit.edu	37	chr14	21971545	21971545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgctacctccccagggCccttcttttctgccacagca	6	19	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:21971545C>T	ENST00000298717.4	-	3	645	c.494G>A	c.(493-495)gGc>gAc	p.G165D	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	165					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)		CTCCCCAGGGCCCTTCTTTTC	0.542																																						ENST00000298717.4																			0				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						c.(493-495)gGc>gAc		methyltransferase like 3							95	83	87					14																	21971545		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971545C>T	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.494G>A	14.37:g.21971545C>T	ENSP00000298717:p.Gly165Asp					METTL3_ENST00000538267.1_Intron	p.G165D	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	645	-	all_cancers(95;0.000628)		165					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.494G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879689	0.91740	.	.	ENSG00000165819	ENST00000298717	T	0.32988	1.43	5.36	5.36	0.76844	.	0.159429	0.56097	D	0.000037	T	0.26268	0.0641	L	0.32530	0.975	0.80722	D	1	P;B;P	0.40731	0.728;0.215;0.596	B;B;B	0.38803	0.282;0.174;0.189	T	0.01791	-1.1273	10	0.22706	T	0.39	-4.7983	18.0313	0.89285	0.0:1.0:0.0:0.0	.	165;165;165	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	D	165	ENSP00000298717:G165D	ENSP00000298717:G165D	G	-	2	0	METTL3	21041385	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	4.551000	0.60740	2.797000	0.96272	0.563000	0.77884	GGC		0.542	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		39	107	0	0	0	1	0	39	107					T	21971545	C	T	21971545	3	4	494	1	0	0	0	0	1	0	0	0	9501	739	26	2	1284	2	METTL3	14	21971545	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		21971545	85377995	65	39878											
GNPNAT1	64841	broad.mit.edu	37	chr14	53248533	53248533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgaatttatgttctAtaatcagagttgccgtagca	9	5	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:53248533A>G	ENST00000216410.3	-	4	501	c.314T>C	c.(313-315)aTa>aCa	p.I105T	GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	105	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TTTATGTTCTATAATCAGAGT	0.363																																						ENST00000216410.3																			0				liver(1)|lung(1)|prostate(1)|skin(1)	4						c.(313-315)aTa>aCa		glucosamine-phosphate N-acetyltransferase 1							118	118	118					14																	53248533		2203	4299	6502	SO:0001583	missense	0				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53248533A>G	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.314T>C	14.37:g.53248533A>G	ENSP00000216410:p.Ile105Thr					GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	p.I105T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN			4	501	-	Breast(41;0.176)		105			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000216410.3	37	c.314T>C	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455353	0.43634	.	.	ENSG00000100522	ENST00000216410;ENST00000554230;ENST00000557604	T;T;T	0.23147	1.92;1.92;1.92	5.52	5.52	0.82312	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.135171	0.64402	D	0.000002	T	0.30727	0.0774	L	0.60012	1.86	0.58432	D	0.999998	B	0.12013	0.005	B	0.23574	0.047	T	0.05386	-1.0888	10	0.52906	T	0.07	-22.8772	15.9507	0.79835	1.0:0.0:0.0:0.0	.	105	Q96EK6	GNA1_HUMAN	T	105;34;105	ENSP00000216410:I105T;ENSP00000452310:I34T;ENSP00000452032:I105T	ENSP00000216410:I105T	I	-	2	0	GNPNAT1	52318283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.788000	0.69020	2.232000	0.73038	0.528000	0.53228	ATA		0.363	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			18	249	0	0	0	1	0	18	249					G	53248533	A	G	53248533	3	3	494	1	0	0	0	0	1	0	0	0	6544	449	16	3	252	3	GNPNAT1	14	53248533	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	31276988	53248533	54101007	66	39879											
DACT1	51339	broad.mit.edu	37	chr14	59113311	59113311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagggcggggagcagggCgcatggccacggacgggagg	21	11	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:59113311C>T	ENST00000335867.4	+	4	1994	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V	DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V|DACT1_ENST00000395153.3_Missense_Mutation_p.A620V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	657					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGGAGCAGGGCGCATGGCCAC	0.692																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1858-1860)gCg>gTg		dishevelled-binding antagonist of beta-catenin 1							8	7	7					14																	59113311		2174	4237	6411	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113311C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1970C>T	14.37:g.59113311C>T	ENSP00000337439:p.Ala657Val					DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V|DACT1_ENST00000335867.4_Missense_Mutation_p.A657V|DACT1_ENST00000395151.3_Missense_Mutation_p.A376V	p.A620V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2006	+			657					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1859C>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	4.955	0.177487	0.09443	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.32	2.01	0.26516	.	0.834161	0.10723	N	0.641527	T	0.38427	0.1040	M	0.64404	1.975	0.09310	N	1	P;P	0.40931	0.733;0.733	B;B	0.28465	0.09;0.057	T	0.14727	-1.0462	10	0.39692	T	0.17	-1.9113	9.8845	0.41253	0.0:0.7336:0.1184:0.1479	.	620;657	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	376;376;620;657;376	ENSP00000451598:A376V;ENSP00000378581:A376V;ENSP00000378582:A620V;ENSP00000337439:A657V;ENSP00000442850:A376V	ENSP00000337439:A657V	A	+	2	0	DACT1	58183064	0.000000	0.05858	0.003000	0.11579	0.174000	0.22865	0.806000	0.27126	0.617000	0.30160	0.563000	0.77884	GCG		0.692	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		5	18	0	0	0	1	0	5	18					T	59113311	C	T	59113311	3	4	494	1	0	0	0	0	1	0	0	0	4222	768	27	1	1984	1	DACT1	14	59113311	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	5864778	59113311	48236229	67	39880											
NEK9	91754	broad.mit.edu	37	chr14	75553847	75553847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcaatctctcaacctcCacctgcagagagctgcacgc	7	18	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:75553847C>T	ENST00000238616.5	-	21	2849	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V	NEK9_ENST00000555763.1_5'Flank	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	897					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)		TCTCAACCTCCACCTGCAGAG	0.512																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2689-2691)gtG>gtA		NIMA-related kinase 9							106	96	99					14																	75553847		2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75553847C>T	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.2691G>A	14.37:g.75553847C>T							p.V897V	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	21	2849	-			897					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2691G>A	CCDS9839.1																																																																																				0.512	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		72	170	0	0	0	1	0	72	170					T	75553847	C	T	75553847	2	4	494	1	0	0	0	0	0	0	0	1	10331	581	21	2		2	NEK9	14	75553847	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	16440536	75553847	31795693	68	39881											
TEKT1	83659	broad.mit.edu	37	chr17	6716181	6716181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagccagcttgtccctgGcatcctttgtatccttcagc	8	14	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:6716181G>A	ENST00000338694.2	-	6	950	c.821C>T	c.(820-822)gCc>gTc	p.A274V	TEKT1_ENST00000535086.1_Missense_Mutation_p.A128V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	274						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)				CTTGTCCCTGGCATCCTTTGT	0.522																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(820-822)gCc>gTc		tektin 1							209	171	184					17																	6716181		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6716181G>A		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.821C>T	17.37:g.6716181G>A	ENSP00000341346:p.Ala274Val					TEKT1_ENST00000535086.1_Missense_Mutation_p.A128V	p.A274V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			6	950	-		Myeloproliferative disorder(207;0.0255)	274					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.821C>T	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221411	0.58560	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.03124	4.04;4.04	4.79	3.8	0.43715	.	0.055200	0.64402	D	0.000001	T	0.07638	0.0192	L	0.53249	1.67	0.50632	D	0.999887	B	0.24823	0.112	B	0.41691	0.364	T	0.25047	-1.0143	10	0.31617	T	0.26	.	10.37	0.44049	0.0969:0.0:0.9031:0.0	.	274	Q969V4	TEKT1_HUMAN	V	274;128	ENSP00000341346:A274V;ENSP00000444142:A128V	ENSP00000341346:A274V	A	-	2	0	TEKT1	6656905	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	6.355000	0.73041	2.375000	0.81037	0.591000	0.81541	GCC		0.522	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		5	248	0	0	0	1	0	5	248					A	6716181	G	A	6716181	3	1	494	1	0	0	0	0	1	0	0	0	15749	1203	42	2	447	2	TEKT1	17	6716181	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		6716181	74479029	69	39882											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	19	0	0	0	1	0	34	19					A	7577121	G	A	7577121	3	1	494	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	860940	7577121	73618089	70	39883											
DNAH9	1770	broad.mit.edu	37	chr17	11795206	11795206	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgtgtaccagtacaCcatccgcgggctctttgagt	9	13	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:11795206C>A	ENST00000262442.4	+	58	11293	c.11225C>A	c.(11224-11226)aCc>aAc	p.T3742N	DNAH9_ENST00000454412.2_Missense_Mutation_p.T3742N|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.T54N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3742					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)		TACCAGTACACCATCCGCGGG	0.502																																						ENST00000262442.3																			0				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						c.(11224-11226)aCc>aAc		dynein, axonemal, heavy chain 9							169	163	165					17																	11795206		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11795206C>A	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.11225C>A	17.37:g.11795206C>A	ENSP00000262442:p.Thr3742Asn					DNAH9_ENST00000396001.2_Missense_Mutation_p.T54N|DNAH9_ENST00000454412.2_Missense_Mutation_p.T3742N	p.T3742N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	58	11293	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3742					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11225C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818552	0.71028	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.56941	0.43;0.43;0.43	5.45	5.45	0.79879	.	0.093121	0.85682	D	0.000000	T	0.81781	0.4895	H	0.96547	3.84	0.80722	D	1	D;D	0.69078	0.984;0.997	P;D	0.69479	0.866;0.964	D	0.86912	0.2061	10	0.72032	D	0.01	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	95;3742	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	N	3742;3742;2324;54;95	ENSP00000262442:T3742N;ENSP00000414874:T3742N;ENSP00000379323:T54N	ENSP00000262442:T3742N	T	+	2	0	DNAH9	11735931	1.000000	0.71417	0.991000	0.47740	0.242000	0.25591	5.849000	0.69465	2.836000	0.97738	0.655000	0.94253	ACC		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	334	1	0	0.000602214	1	0.000619258	5	334					A	11795206	C	A	11795206	3	1	494	1	0	0	0	0	1	0	0	0	4608	507	18	4	11455	4	DNAH9	17	11795206	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	4218085	11795206	69400004	71	39884											
C17orf78	284099	broad.mit.edu	37	chr17	35733066	35733066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcttcagcctaatcaTtgcatcctatgatgccaaca	6	12	3	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:35733066T>C	ENST00000300618.4	+	1	82	c.32T>C	c.(31-33)aTt>aCt	p.I11T	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	11						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCCTAATCATTGCATCCTAT	0.463																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(31-33)aTt>aCt		chromosome 17 open reading frame 78							131	130	130					17																	35733066		2013	4184	6197	SO:0001583	missense	284099					integral to membrane		g.chr17:35733066T>C	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.32T>C	17.37:g.35733066T>C	ENSP00000300618:p.Ile11Thr					ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T|ACACA_ENST00000416895.1_Intron	p.I11T	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			1	82	+		Breast(25;0.00295)|Ovarian(249;0.15)	11					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.32T>C	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.627063	0.46840	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.54866	0.55	5.79	2.45	0.29901	.	0.474289	0.19907	N	0.103369	T	0.40196	0.1107	L	0.34521	1.04	0.26560	N	0.97375	B;B	0.30851	0.297;0.093	B;B	0.34779	0.189;0.047	T	0.36792	-0.9733	10	0.72032	D	0.01	-6.915	6.5576	0.22469	0.0:0.2708:0.0:0.7292	.	11;11	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	T	11	ENSP00000300618:I11T	ENSP00000300618:I11T	I	+	2	0	C17orf78	32807179	0.991000	0.36638	0.948000	0.38648	0.965000	0.64279	0.879000	0.28146	0.479000	0.27511	0.482000	0.46254	ATT		0.463	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		31	82	0	0	0	1	0	31	82					C	35733066	T	C	35733066	3	2	494	1	0	0	0	0	1	0	0	0	1883	1493	52	3	34	3	C17orf78	17	35733066	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	23937860	35733066	45462144	72	39885											
STXBP4	252983	broad.mit.edu	37	chr17	53218683	53218683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtaggtttaccttatgGgtgggaggaagcttacacag	13	7	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:53218683G>A	ENST00000376352.2	+	17	1709	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	501	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTACCTTATGGGTGGGAGGAA	0.363																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1501-1503)gGg>gAg		syntaxin binding protein 4							99	97	98					17																	53218683		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53218683G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1502G>A	17.37:g.53218683G>A	ENSP00000365530:p.Gly501Glu					STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	p.G501E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			17	1709	+			501			WW.		Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1502G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982952	0.74474	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	D;D	0.87334	-2.24;-2.24	5.53	5.53	0.82687	WW/Rsp5/WWP (5);	0.061993	0.64402	D	0.000006	D	0.94473	0.8221	M	0.91140	3.18	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.64595	0.881;0.927	D	0.95117	0.8243	10	0.87932	D	0	-3.7963	17.004	0.86388	0.0:0.0:1.0:0.0	.	479;501	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	E	501;479	ENSP00000365530:G501E;ENSP00000391087:G479E	ENSP00000365530:G501E	G	+	2	0	STXBP4	50573682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.883000	0.75595	2.882000	0.98803	0.655000	0.94253	GGG		0.363	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		9	154	0	0	0	1	0	9	154					A	53218683	G	A	53218683	3	1	494	1	0	0	0	0	1	0	0	0	15354	1232	43	2	1560	2	STXBP4	17	53218683	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	17485617	53218683	27976527	73	39886											
TUBD1	51174	broad.mit.edu	37	chr17	57937725	57937725	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacctgctctaatgacgtGaaactgtctaaaaagtcctc	6	11	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:57937725G>T	ENST00000592426.1	-	8	1320	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L	TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L|TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000325752.3_Missense_Mutation_p.F440L			Q9UJT1	TBD_HUMAN	tubulin, delta 1	440					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)	p.F440F(1)		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)	CTAATGACGTGAAACTGTCTA	0.318																																						ENST00000325752.3																			1	Substitution - coding silent(1)	p.F440F(1)	lung(1)	NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(1318-1320)ttC>ttA		tubulin, delta 1							115	116	116					17																	57937725		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57937725G>T	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.1320C>A	17.37:g.57937725G>T	ENSP00000468518:p.Phe440Leu					TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000592426.1_Missense_Mutation_p.F440L	p.F440L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		9	1597	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		440					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.1320C>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796107	0.70567	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094;ENST00000539018	T;T;T;T;T	0.80738	-1.14;-0.86;-1.41;-0.95;-0.91	5.82	3.46	0.39613	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	M	0.84683	2.71	0.47698	D	0.999494	D;D;D;D;D;P	0.67145	0.989;0.972;0.969;0.986;0.996;0.928	P;D;P;D;D;P	0.70227	0.851;0.924;0.742;0.968;0.919;0.742	D	0.85787	0.1365	10	0.30854	T	0.27	-17.4332	10.3328	0.43833	0.186:0.0:0.814:0.0	.	383;186;385;338;385;440	E9PCA7;Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;.;TBD_HUMAN	L	440;385;186;383;338;224	ENSP00000320797:F440L;ENSP00000342399:F385L;ENSP00000342561:F186L;ENSP00000377785:F383L;ENSP00000365262:F338L	ENSP00000320797:F440L	F	-	3	2	TUBD1	55292507	1.000000	0.71417	0.985000	0.45067	0.868000	0.49771	1.912000	0.39946	0.556000	0.29098	0.467000	0.42956	TTC		0.318	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		13	155	1	0	1.37285e-15	1	1.46707e-15	13	155					T	57937725	G	T	57937725	3	4	494	1	0	0	0	0	1	0	0	0	16759	1281	45	4	45	4	TUBD1	17	57937725	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	4719042	57937725	23257485	74	39887											
ABCA6	23460	broad.mit.edu	37	chr17	67101613	67101613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcttttcacctgtgttattGatgatcaacaggctggtacg	9	8	3	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:67101613G>C	ENST00000284425.2	-	20	2904	c.2730C>G	c.(2728-2730)atC>atG	p.I910M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	910					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)					CTGTGTTATTGATGATCAACA	0.363																																						ENST00000284425.2																			0				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						c.(2728-2730)atC>atG		ATP-binding cassette, sub-family A (ABC1), member 6							48	49	49					17																	67101613		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67101613G>C	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.2730C>G	17.37:g.67101613G>C	ENSP00000284425:p.Ile910Met						p.I910M	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			20	2904	-	Breast(10;5.65e-12)		910					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2730C>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.938932	0.52972	.	.	ENSG00000154262	ENST00000284425	D	0.86694	-2.16	4.97	4.97	0.65823	.	0.477342	0.17858	N	0.159605	D	0.92218	0.7532	M	0.84846	2.72	0.80722	D	1	D	0.58970	0.984	D	0.64321	0.924	D	0.90387	0.4392	10	0.34782	T	0.22	.	9.4729	0.38853	0.0945:0.0:0.9055:0.0	.	910	Q8N139	ABCA6_HUMAN	M	910	ENSP00000284425:I910M	ENSP00000284425:I910M	I	-	3	3	ABCA6	64613208	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.817000	0.39002	2.743000	0.94032	0.591000	0.81541	ATC		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		5	92	0	0	0	1	0	5	92					C	67101613	G	C	67101613	3	2	494	1	0	0	0	0	1	0	0	0	36	1280	45	4	2203	4	ABCA6	17	67101613	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	9163888	67101613	14093597	75	39888											
ASXL3	80816	broad.mit.edu	37	chr18	31326457	31326457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaactgaaatgctcttgCcggctgaaagccatgattgt	11	8	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:31326457C>T	ENST00000269197.5	+	12	6645	c.6645C>T	c.(6643-6645)tgC>tgT	p.C2215C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2215					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						AATGCTCTTGCCGGCTGAAAG	0.512																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(6643-6645)tgC>tgT		additional sex combs like 3 (Drosophila)							88	91	90					18																	31326457		1992	4179	6171	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326457C>T	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.6645C>T	18.37:g.31326457C>T							p.C2215C	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	6645	+			2215					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.6645C>T	CCDS45847.1																																																																																				0.512	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			5	146	0	0	0	1	0	5	146					T	31326457	C	T	31326457	2	4	494	1	0	0	0	0	0	0	0	1	1068	747	26	2		2	ASXL3	18	31326457	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		31326457	46750791	76	39889											
CTDP1	9150	broad.mit.edu	37	chr18	77464812	77464812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagcccatgctgcacAcgcgcctgcgtccacactgc	13	16	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:77464812A>G	ENST00000299543.7	+	5	814	c.667A>G	c.(667-669)Acg>Gcg	p.T223A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A|RP11-567M16.5_ENST00000587315.1_RNA	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	223	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATGCTGCACACGCGCCTGCG	0.602																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(667-669)Acg>Gcg		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1							81	72	75					18																	77464812		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77464812A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.667A>G	18.37:g.77464812A>G	ENSP00000299543:p.Thr223Ala					CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A	p.T223A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	5	814	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	223			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.667A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768909	0.90020	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.17213	2.29;2.29	4.96	4.96	0.65561	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.39078	-0.9631	10	0.39692	T	0.17	-35.504	14.9166	0.70801	1.0:0.0:0.0:0.0	.	104;223;223	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	A	223	ENSP00000299543:T223A;ENSP00000075430:T223A	ENSP00000075430:T223A	T	+	1	0	CTDP1	75565800	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	8.440000	0.90311	1.975000	0.57531	0.533000	0.62120	ACG		0.602	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		12	160	0	0	0	1	0	12	160					G	77464812	A	G	77464812	3	3	494	1	0	0	0	0	1	0	0	0	4002	159	6	3	685	3	CTDP1	18	77464812	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	46138355	77464812	612436	77	39890											
ABCA7	10347	broad.mit.edu	37	chr19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcccctctcgcaggtttTgggaccctggcccagccgcg	12	17	1	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	484					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)		TCGCAGGTTTTGGGACCCTGG	0.642																																						ENST00000263094.6																			0				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						c.(1450-1452)Tgg>Ggg		ATP-binding cassette, sub-family A (ABC1), member 7							66	73	71					19																	1046233		2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046233T>G	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.1450T>G	19.37:g.1046233T>G	ENSP00000263094:p.Trp484Gly					ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR	p.W484G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		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)	13	1681	+		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)	484					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1450T>G	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.414745	0.62511	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.94828	-3.53;-3.53	4.95	4.95	0.65309	.	.	.	.	.	D	0.96787	0.8951	M	0.79123	2.44	0.46356	D	0.999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.97146	0.9828	9	0.72032	D	0.01	.	12.5427	0.56182	0.0:0.0:0.0:1.0	.	346;484	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	G	484	ENSP00000263094:W484G;ENSP00000414062:W484G	ENSP00000263094:W484G	W	+	1	0	ABCA7	997233	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.869000	0.87170	1.858000	0.53909	0.454000	0.30748	TGG		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	340	0	0	0	1	0	4	340					G	1046233	T	G	1046233	3	3	494	1	0	0	0	0	1	0	0	0	37	1812	63	5	1496	5	ABCA7	19	1046233	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		1046233	58082750	78	39891											
ZNF846	162993	broad.mit.edu	37	chr19	9874046	9874046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaagtccactcctcctgGgtaaagtccacagccacatc	6	15	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:9874046G>A	ENST00000397902.2	-	3	467	c.54C>T	c.(52-54)acC>acT	p.T18T	ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_5'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	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)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACTCCTCCTGGGTAAAGTCCA	0.423																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(52-54)acC>acT		zinc finger protein 846							131	136	134					19																	9874046		2203	4300	6503	SO:0001819	synonymous_variant	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9874046G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.54C>T	19.37:g.9874046G>A						ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron	p.T18T	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			3	467	-			18			KRAB.		A8K0H1|B3KUP1	Silent	SNP	ENST00000397902.2	37	c.54C>T	CCDS42496.1																																																																																				0.423	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		58	206	0	0	0	1	0	58	206					A	9874046	G	A	9874046	2	1	494	1	0	0	0	0	0	0	0	1	18189	1219	43	2		2	ZNF846	19	9874046	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	8827813	9874046	49254937	79	39892											
DDA1	79016	broad.mit.edu	37	chr19	17424890	17424890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattttagtcgatttcacgCggactccgtgtgcaaagcct	9	11	1	0	rs372277903		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:17424890C>T	ENST00000359866.4	+	2	186	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	21										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGATTTCACGCGGACTCCGTG	0.527																																						ENST00000359866.4																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(61-63)gCg>gTg		DET1 and DDB1 associated 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	107	107	107		62	5	1	19		107	0,8600		0,0,4300	no	missense	DDA1	NM_024050.5	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	21/103	17424890	1,13005	2203	4300	6503	SO:0001583	missense	79016							g.chr19:17424890C>T	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 58"	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.62C>T	19.37:g.17424890C>T	ENSP00000352928:p.Ala21Val						p.A21V	NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN			2	186	+			21						Missense_Mutation	SNP	ENST00000359866.4	37	c.62C>T	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620821	0.66787	2.27E-4	0.0	ENSG00000130311	ENST00000359866	.	.	.	4.98	4.98	0.66077	Ubiquitin ligase, Det1/DDB1-complexing (1);	0.128045	0.52532	D	0.000073	T	0.49541	0.1563	L	0.43152	1.355	0.80722	D	1	B	0.31290	0.318	B	0.28638	0.092	T	0.47812	-0.9088	9	0.32370	T	0.25	-18.1163	15.7641	0.78110	0.0:1.0:0.0:0.0	.	21	Q9BW61	DDA1_HUMAN	V	21	.	ENSP00000352928:A21V	A	+	2	0	DDA1	17285890	1.000000	0.71417	0.954000	0.39281	0.869000	0.49853	7.456000	0.80751	2.305000	0.77605	0.555000	0.69702	GCG		0.527	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050		10	269	0	0	0	1	0	10	269					T	17424890	C	T	17424890	3	4	494	1	0	0	0	0	1	0	0	0	4320	768	27	1	68	1	DDA1	19	17424890	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	7550844	17424890	41704093	80	39893											
TSHZ3	57616	broad.mit.edu	37	chr19	31770237	31770237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacagctgctgctgctgctActgctgctgctgctgctgcc	11	16	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				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)					tgctgctgctactgctgctgc	0.607																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(460-462)agT>agC		teashirt zinc finger homeobox 3							39	44	42					19																	31770237		2184	4294	6478	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770237A>G	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.462T>C	19.37:g.31770237A>G							p.S154S	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	789	-	Esophageal squamous(110;0.226)		154			Ser-rich.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.462T>C	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	42	0	0	0	1	0	3	42					G	31770237	A	G	31770237	2	3	494	1	0	0	0	0	0	0	0	1	16622	388	14	3		3	TSHZ3	19	31770237	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	14345347	31770237	27358746	81	39894											
FFAR3	2865	broad.mit.edu	37	chr19	35850510	35850510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccttgtctgctttgggCcctacaacgtgtcccatgtc	8	14	1	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:35850510C>T	ENST00000327809.4	+	2	919	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	FFAR3_ENST00000594310.1_Missense_Mutation_p.P240S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	240					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)			CTGCTTTGGGCCCTACAACGT	0.642																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(718-720)Ccc>Tcc		free fatty acid receptor 3							152	115	128					19																	35850510		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850510C>T	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.718C>T	19.37:g.35850510C>T	ENSP00000328230:p.Pro240Ser					FFAR3_ENST00000594310.1_Missense_Mutation_p.P240S	p.P240S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	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)		2	919	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		240					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.718C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032525	0.75504	.	.	ENSG00000185897	ENST00000327809	T	0.80304	-1.36	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.91922	0.7442	M	0.92880	3.355	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.93794	0.7095	10	0.87932	D	0	-25.7523	16.0595	0.80830	0.0:1.0:0.0:0.0	.	240	O14843	FFAR3_HUMAN	S	240	ENSP00000328230:P240S	ENSP00000328230:P240S	P	+	1	0	FFAR3	40542350	1.000000	0.71417	0.994000	0.49952	0.497000	0.33675	7.795000	0.85887	2.385000	0.81259	0.455000	0.32223	CCC		0.642	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		5	321	0	0	0	1	0	5	321					T	35850510	C	T	35850510	3	4	494	1	0	0	0	0	1	0	0	0	5829	739	26	2	720	2	FFAR3	19	35850510	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	4080273	35850510	23278473	82	39895											
ZFP82	284406	broad.mit.edu	37	chr19	36884065	36884065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcattccttacattcgtaagGtttttcaccagtatgaattc	6	9	1	1	rs550683550		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:36884065G>T	ENST00000392161.3	-	5	1419	c.1177C>A	c.(1177-1179)Cct>Act	p.P393T	ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	393					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(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTCGTAAGGTTTTTCACCA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22792	0.001		0.0	False		,,,				2504	0.0					ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1177-1179)Cct>Act		ZFP82 zinc finger protein							122	121	121					19																	36884065		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884065G>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1177C>A	19.37:g.36884065G>T	ENSP00000431265:p.Pro393Thr					ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1419	-			393					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1177C>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063941	0.55432	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.56275	0.47;0.47	4.53	4.53	0.55603	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000902	T	0.67636	0.2914	L	0.58810	1.83	0.36160	D	0.848036	D	0.76494	0.999	D	0.71870	0.975	T	0.76457	-0.2952	10	0.87932	D	0	.	14.8033	0.69932	0.0:0.0:1.0:0.0	.	393	Q8N141	ZFP82_HUMAN	T	393	ENSP00000431265:P393T;ENSP00000446080:P393T	ENSP00000431265:P393T	P	-	1	0	ZFP82	41575905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.430000	0.80321	2.352000	0.79861	0.591000	0.81541	CCT		0.388	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	169	1	0	0.00116845	1	0.00117926	6	169					T	36884065	G	T	36884065	3	4	494	1	0	0	0	0	1	0	0	0	17650	1261	44	4	425	4	ZFP82	19	36884065	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	1033555	36884065	22244918	83	39896											
ZFP64	55734	broad.mit.edu	37	chr20	50701717	50701717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactcgcacttgaaaggcttCtcccccgagtgcacgatcat	8	14	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:50701717C>T	ENST00000361387.2	-	9	1377	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.E220E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAAAGGCTTCTCCCCCGAGT	0.532																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1315-1317)gaG>gaA		ZFP64 zinc finger protein							59	53	55					20																	50701717		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701717C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1317G>A	20.37:g.50701717C>T						ZFP64_ENST00000371523.4_Silent_p.E220E|ZFP64_ENST00000371518.2_Intron	p.E439E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1377	-			396					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1317G>A	CCDS13439.1																																																																																				0.532	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		9	76	0	0	0	1	0	9	76					T	50701717	C	T	50701717	2	4	494	1	0	0	0	0	0	0	0	1	17649	912	32	2		2	ZFP64	20	50701717	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		50701717	12323803	84	39897											
DSCAM	1826	broad.mit.edu	37	chr21	42064859	42064859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttctggtcctccacacGgactgtatagggctcccgta	11	12	1	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr21:42064859G>A	ENST00000400454.1	-	3	862	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	129	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCCACACGGACTGTATAG	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(385-387)Cgt>Tgt		Down syndrome cell adhesion molecule							115	113	113					21																	42064859		2012	4173	6185	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42064859G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.385C>T	21.37:g.42064859G>A	ENSP00000383303:p.Arg129Cys						p.R129C	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			3	862	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	129			Ig-like C2-type 1.|Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.385C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365213	0.95877	.	.	ENSG00000171587	ENST00000400454	T	0.77750	-1.12	5.93	5.93	0.95920	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88966	0.3397	10	0.59425	D	0.04	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	129	O60469	DSCAM_HUMAN	C	129	ENSP00000383303:R129C	ENSP00000383303:R129C	R	-	1	0	DSCAM	40986729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.908000	0.87438	2.814000	0.96858	0.655000	0.94253	CGT		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	130	0	0	0	1	0	14	130					A	42064859	G	A	42064859	3	1	494	1	0	0	0	0	1	0	0	0	4768	1116	39	1	5777	1	DSCAM	21	42064859	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		42064859	6065036	85	39898											
SEC14L3	266629	broad.mit.edu	37	chr22	30866506	30866506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcacctcggagccagcGtagaaggaaataatcatcag	10	12	3	1	rs116155456		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr22:30866506G>A	ENST00000215812.4	-	2	208	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame|SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000403066.1_De_novo_Start_OutOfFrame	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	40						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGGAGCCAGCGTAGAAGGAAA	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20574	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19								SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)	G	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	119	102	108		118	5.4	1	22	dbSNP_132	108	0,8600		0,0,4300	yes	missense	SEC14L3	NM_174975.4	180	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	40/401	30866506	7,12999	2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30866506G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.118C>T	22.37:g.30866506G>A	ENSP00000215812:p.Arg40Cys					SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R40C|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame|SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame				Q9UDX4	S14L3_HUMAN			0	224	-								E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Translation_Start_Site	SNP	ENST00000215812.4	37		CCDS13877.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	23.1|23.1	4.371364|4.371364	0.82573|0.82573	0.001589|0.001589	0.0|0.0	ENSG00000100012|ENSG00000100012	ENST00000215812|ENST00000435069	D|.	0.95171|.	-3.63|.	5.39|5.39	5.39|5.39	0.77823|0.77823	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);|.	0.134031|.	0.47455|.	D|.	0.000235|.	D|D	0.87708|0.87708	0.6245|0.6245	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70487|.	0.969|.	D|D	0.91356|0.91356	0.5108|0.5108	10|5	0.66056|.	D|.	0.02|.	-17.4296|-17.4296	13.5497|13.5497	0.61726|0.61726	0.0:0.0:0.8435:0.1565|0.0:0.0:0.8435:0.1565	.|.	40|.	Q9UDX4|.	S14L3_HUMAN|.	C|M	40|20	ENSP00000215812:R40C|.	ENSP00000215812:R40C|.	R|T	-|-	1|2	0|0	SEC14L3|SEC14L3	29196506|29196506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.341000|5.341000	0.65964|0.65964	2.506000|2.506000	0.84524|0.84524	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.567	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		7	96	0	0	0	1	0	7	96					A	30866506	G	A	30866506	3	1	494	1	0	0	0	0	1	0	0	0	13983	1145	40	1	1128	1	SEC14L3	22	30866506	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		30866506	20438060	86	39899											
ABCB7	22	broad.mit.edu	37	chrX	74282268	74282268	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctttgcttttctcctccTggtaaaggaaaattttactt	5	9	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:74282268T>C	ENST00000373394.3	-	14	1839		c.e14-2		ABCB7_ENST00000339447.4_Splice_Site|ABCB7_ENST00000253577.3_Splice_Site|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7						cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTCTCCTCCTGGTAAAGGAA	0.363																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.e14-2		ATP-binding cassette, sub-family B (MDR/TAP), member 7							88	77	81					X																	74282268		2203	4299	6502	SO:0001630	splice_region_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74282268T>C	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1832-2A>G	X.37:g.74282268T>C						ABCB7_ENST00000373394.3_Splice_Site|ABCB7_ENST00000339447.4_Splice_Site		NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			14	1859	-								G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Splice_Site	SNP	ENST00000373394.3	37			.	.	.	.	.	.	.	.	.	.	T	17.02	3.282209	0.59867	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2948	0.60290	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCB7	74198993	1.000000	0.71417	0.982000	0.44146	0.855000	0.48748	7.546000	0.82137	1.733000	0.51620	0.437000	0.28790	.		0.363	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	Intron	4	59	0	0	0	1	0	4	59					C	74282268	T	C	74282268	5	2	494	1	0	0	0	0	0	0	1	0	46	1594	55	3	440	3	ABCB7	23	74282268	Splice_Site	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		74282268	80988292	87	39900											
ATRX	546	broad.mit.edu	37	chrX	76937867	76937876	+	Frame_Shift_Del	DEL	AGCCATCCTG	AGCCATCCTG	-													tttctctgcaatatcagataAgccatcctgtacttttttac							TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:76937867_76937876delAGCCATCCTG	ENST00000373344.5	-	9	3086_3095	c.2872_2881delCAGGATGGCT	c.(2872-2883)caggatggcttafs	p.QDGL958fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	958					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						ATATCAGATAAGCCATCCTGTACTTTTTTA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2872-2883)tafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937867_76937876delAGCCATCCTG	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.2872_2881delCAGGATGGCT	X.37:g.76937867_76937876delAGCCATCCTG	ENSP00000362441:p.Gln958fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs	p.QDGL958fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3086_3095	-			958					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2872_2881delCAGGATGGCT	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		10	492						10	492	---	---	---	---	-	76937876	AGCCATCCTG	-	76937867	7	5	494	1	0	1	0	1	0	0	0	0	1208	69	3	0	4705	0	ATRX	23	76937867	Frame_Shift_Del	DEL	AGCCATCCTG	TCGA-TQ-A7RW-01A-11D-A33T-08	2655599	76937867	78332693	88	39901											
CXorf40A	91966	broad.mit.edu	37	chrX	148627360	148627360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctggtggagagactcGggatgactcctgctcagatt	14	9	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:148627360G>A	ENST00000441248.1	+	3	1771	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	62										breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGAGACTCGGGATGACTCC	0.567																																						ENST00000441248.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(184-186)Ggg>Agg		chromosome X open reading frame 40A							61	31	41					X																	148627360		2203	4299	6502	SO:0001583	missense	91966						protein binding	g.chrX:148627360G>A	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"endothelial-overexpressed lipopolysaccharide-associated factor 1"		"chromosome X open reading frame 40"	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.184G>A	X.37:g.148627360G>A	ENSP00000423099:p.Gly62Arg					CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R	p.G62R			Q8TE69	CX04A_HUMAN			3	1771	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		62					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	ENST00000441248.1	37	c.184G>A	CCDS14687.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135239	0.09032	.	.	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000422892;ENST00000359293	D;D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	3.71	-0.307	0.12777	PUA-like domain (1);	0.104536	0.64402	D	0.000004	D	0.95037	0.8393	M	0.82923	2.615	0.09310	N	0.999994	B;B;D	0.89917	0.399;0.193;1.0	B;B;D	0.63703	0.073;0.047;0.917	D	0.89269	0.3603	10	0.87932	D	0	.	6.8639	0.24082	0.2106:0.1328:0.6566:0.0	.	62;62;62	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	R	62	ENSP00000427540:G62R;ENSP00000423099:G62R;ENSP00000421745:G62R;ENSP00000422512:G62R;ENSP00000425520:G62R;ENSP00000423160:G62R;ENSP00000423708:G62R;ENSP00000422312:G62R;ENSP00000420882:G62R	ENSP00000420882:G62R	G	+	1	0	CXorf40A	148435265	0.646000	0.27295	0.000000	0.03702	0.000000	0.00434	1.289000	0.33307	-0.411000	0.07530	-1.500000	0.00958	GGG		0.567	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		49	19	0	0	0	1	0	49	19					A	148627360	G	A	148627360	3	1	494	1	0	0	0	0	1	0	0	0	4108	1116	39	1	186	1	CXorf40A	23	148627360	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	71689493	148627360	6643200	89	39902											
CXorf40B	541578	broad.mit.edu	37	chrX	149101909	149101909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgagcaggagtcatccCgagtctctccaccagcagct	9	14	3	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:149101909C>T	ENST00000370406.3	-	4	1012	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	62										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCATCCCGAGTCTCTCC	0.562																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(184-186)Ggg>Agg		chromosome X open reading frame 40B							186	171	177					X																	149101909		2200	4300	6500	SO:0001583	missense	541578							g.chrX:149101909C>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.184G>A	X.37:g.149101909C>T	ENSP00000359434:p.Gly62Arg					CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R	p.G62R			Q96DE9	CX04B_HUMAN			4	1012	-	Acute lymphoblastic leukemia(192;6.56e-05)		62						Missense_Mutation	SNP	ENST00000370406.3	37	c.184G>A	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.498953	0.44455	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	3.24	2.36	0.29203	PUA-like domain (1);	0.104536	0.64402	D	0.000004	D	0.95726	0.8610	M	0.82923	2.615	0.43480	D	0.995706	D	0.89917	1.0	D	0.67382	0.951	D	0.94304	0.7539	10	0.87932	D	0	-23.1175	8.8456	0.35168	0.0:0.8807:0.0:0.1193	.	62	Q96DE9	CX04B_HUMAN	R	62	ENSP00000417546:G62R;ENSP00000359434:G62R;ENSP00000347339:G62R;ENSP00000359432:G62R	ENSP00000347339:G62R	G	-	1	0	CXorf40B	148852567	0.004000	0.15560	0.001000	0.08648	0.172000	0.22775	1.298000	0.33412	0.247000	0.21414	0.456000	0.33151	GGG		0.562	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		45	218	0	0	0	1	0	45	218					T	149101909	C	T	149101909	3	4	494	1	0	0	0	0	1	0	0	0	4109	652	23	1	300	1	CXorf40B	23	149101909	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	474549	149101909	6168651	90	39903											
C1orf9	51430	broad.mit.edu	37	chr1	172579033	172579033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaccccatagccaatggCgacataaaaggaagaaagcc	9	11	0	1	rs369046494		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:172579033C>T	ENST00000263688.3	+	24	3618	c.3399C>T	c.(3397-3399)ggC>ggT	p.G1133G	SUCO_ENST00000367723.4_Silent_p.G1284G|SUCO_ENST00000610051.1_Silent_p.G762G|SUCO_ENST00000608151.1_Silent_p.G1285G	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1133					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAGCCAATGGCGACATAAAAG	0.388																																						ENST00000367723.3																			0											c.(3853-3855)ggC>ggT		SUN domain containing ossification factor		A	,	0,4406		0,0,2203	86	88	87		3399,3267	4.4	1	1		87	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	C1orf9	NM_014283.3,NM_016227.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1133/1255,1089/1211	172579033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51430							g.chr1:172579033C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3399C>T	1.37:g.172579033C>T						SUCO_ENST00000263688.3_Silent_p.G1133G	p.G1285G	NM_016227.2	NP_057311.2					23	3979	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.3855C>T	CCDS1303.1																																																																																				0.388	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	79	0	0	0	1	0	4	79					T	172579033	C	T	172579033	2	4	495	1	0	0	0	0	0	0	0	1	2067	755	27	1		1	C1orf9	1	172579033	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		172579033	76671588	1	39904											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874643	88874643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttcagaaggacaaagTtcaaaggagtgcccctcatc	10	10	3	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:88874643T>C	ENST00000303236.3	-	13	2659	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.E635E|EIF2AK3_ENST00000470706.1_Intron	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	786	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AAGGACAAAGTTCAAAGGAGT	0.453																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2356-2358)gaA>gaG		eukaryotic translation initiation factor 2-alpha kinase 3							265	264	264					2																	88874643		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874643T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2358A>G	2.37:g.88874643T>C						EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Silent_p.E635E|AC104134.2_ENST00000413234.1_RNA	p.E786E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2659	-			786			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.2358A>G	CCDS33241.1																																																																																				0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		109	123	0	0	0	1	0	109	123					C	88874643	T	C	88874643	2	2	495	1	0	0	0	0	0	0	0	1	4998	1722	60	3		3	EIF2AK3	2	88874643	Silent	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		88874643	154324730	2	39905											
LCT	3938	broad.mit.edu	37	chr2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagatgttgcttgccAccaagccattgatcagcctg	11	10	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	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)	GTTGCTTGCCACCAAGCCATT	0.507																																						ENST00000264162.2																			0				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						c.(3022-3024)gTg>gCg		lactase							62	66	64					2																	136566894		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566894A>G	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.3023T>C	2.37:g.136566894A>G	ENSP00000264162:p.Val1008Ala						p.V1008A	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3033	-			1008			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3023T>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105711	0.37145	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51574	0.7	5.78	4.56	0.56223	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.151840	0.06059	N	0.658098	T	0.45994	0.1370	L	0.43598	1.365	0.22835	N	0.998679	B	0.15719	0.014	B	0.21360	0.034	T	0.33394	-0.9870	10	0.54805	T	0.06	-1.7706	11.8479	0.52395	0.8691:0.0:0.0:0.1309	.	1008	P09848	LPH_HUMAN	A	1008;440	ENSP00000264162:V1008A	ENSP00000264162:V1008A	V	-	2	0	LCT	136283364	0.675000	0.27558	0.995000	0.50966	0.672000	0.39443	4.302000	0.59092	2.200000	0.70718	0.460000	0.39030	GTG		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		21	35	0	0	0	1	0	21	35					G	136566894	A	G	136566894	3	3	495	1	0	0	0	0	1	0	0	0	8693	159	6	3	2800	3	LCT	2	136566894	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	47692251	136566894	106632479	3	39906											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	57	0	0	0	1	0	27	57					T	209113112	C	T	209113112	3	4	495	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	72546218	209113112	34086261	4	39907											
NEU2	4759	broad.mit.edu	37	chr2	233898830	233898830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccctactcagtggcAagctcaggaggtggtggccc	12	14	3	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:233898830A>G	ENST00000233840.3	+	2	206	c.206A>G	c.(205-207)cAa>cGa	p.Q69R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	69					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ACTCAGTGGCAAGCTCAGGAG	0.622																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(205-207)cAa>cGa		sialidase 2 (cytosolic sialidase)							86	86	86					2																	233898830		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233898830A>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.206A>G	2.37:g.233898830A>G	ENSP00000233840:p.Gln69Arg						p.Q69R	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	206	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	69					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.206A>G	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	A	9.201	1.028496	0.19512	.	.	ENSG00000115488	ENST00000233840	D	0.83837	-1.77	4.73	3.58	0.41010	Neuraminidase (2);	0.492957	0.19537	N	0.111892	T	0.78910	0.4358	L	0.57536	1.79	0.22771	N	0.99876	B	0.30104	0.268	B	0.34452	0.183	T	0.66069	-0.6015	10	0.31617	T	0.26	-2.0704	8.4548	0.32893	0.833:0.0:0.167:0.0	.	69	Q9Y3R4	NEUR2_HUMAN	R	69	ENSP00000233840:Q69R	ENSP00000233840:Q69R	Q	+	2	0	NEU2	233607074	0.841000	0.29509	0.699000	0.30290	0.934000	0.57294	1.695000	0.37763	0.676000	0.31285	0.459000	0.35465	CAA		0.622	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		41	58	0	0	0	1	0	41	58					G	233898830	A	G	233898830	3	3	495	1	0	0	0	0	1	0	0	0	10342	130	5	3	212	3	NEU2	2	233898830	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	24785718	233898830	9300543	5	39908											
CDCP1	64866	broad.mit.edu	37	chr3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatatgtcttttagaaatgaCgatgtaacagggttttgcca	9	5	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(175-177)Gtc>Ctc		CUB domain containing protein 1							115	116	116					3																	45160021		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160021C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.175G>C	3.37:g.45160021C>G	ENSP00000296129:p.Val59Leu					CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	309	-			59					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.175G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092646	0.20471	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.43688	1.94;0.94	5.33	-10.7	0.00240	.	2.796970	0.00763	N	0.001153	T	0.23649	0.0572	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	0.11842	-1.0571	10	0.11794	T	0.64	.	4.39	0.11335	0.1527:0.3987:0.2992:0.1493	.	59;59	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	L	59	ENSP00000296129:V59L;ENSP00000399342:V59L	ENSP00000296129:V59L	V	-	1	0	CDCP1	45135025	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.742000	0.00191	-2.549000	0.00480	-1.036000	0.02392	GTC		0.428	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		26	43	0	0	0	1	0	26	43					G	45160021	C	G	45160021	3	3	495	1	0	0	0	0	1	0	0	0	3093	536	19	4	2375	4	CDCP1	3	45160021	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		45160021	152862409	6	39909											
EPHA3	2042	broad.mit.edu	37	chr3	89390072	89390072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattttgtttgtagcttgtcGaccaggtttctacaaggcat	9	8	1	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:89390072G>A	ENST00000336596.2	+	4	1046	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	274	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTAGCTTGTCGACCAGGTTTC	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(820-822)cGa>cAa		EPH receptor A3							139	136	137					3																	89390072		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390072G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.821G>A	3.37:g.89390072G>A	ENSP00000337451:p.Arg274Gln	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q	p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1046	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	274			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.821G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471078	0.26423	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.15017	2.46;2.46;2.46	6.17	2.13	0.27403	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.316804	0.33419	N	0.004922	T	0.14141	0.0342	L	0.60067	1.865	0.40487	D	0.980503	B;B	0.30584	0.03;0.286	B;B	0.21546	0.009;0.035	T	0.08994	-1.0695	9	.	.	.	.	8.1439	0.31100	0.1979:0.1126:0.6895:0.0	.	274;274	P29320;P29320-2	EPHA3_HUMAN;.	Q	274	ENSP00000337451:R274Q;ENSP00000399926:R274Q;ENSP00000419190:R274Q	.	R	+	2	0	EPHA3	89472762	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	2.444000	0.44890	0.106000	0.17784	0.655000	0.94253	CGA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	111	0	0	0	1	0	4	111					A	89390072	G	A	89390072	3	1	495	1	0	0	0	0	1	0	0	0	5168	1058	37	1	835	1	EPHA3	3	89390072	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	44230051	89390072	108632358	7	39910											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	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						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	32	0	0	0	1	0	26	32					G	178952085	A	G	178952085	3	3	495	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	89562013	178952085	19070345	8	39911											
ATP13A4	84239	broad.mit.edu	37	chr3	193207598	193207598	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatattccttatagtctTcactaaaccacaaacagaca	3	11	2	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:193207598T>G	ENST00000342695.4	-	7	981	c.659A>C	c.(658-660)gAa>gCa	p.E220A	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	220						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)		CTTATAGTCTTCACTAAACCA	0.338																																						ENST00000342695.4																			0				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						c.(658-660)gAa>gCa		ATPase type 13A4							108	111	110					3																	193207598		2203	4299	6502	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193207598T>G	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.659A>C	3.37:g.193207598T>G	ENSP00000339182:p.Glu220Ala					ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A	p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	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)	7	981	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		220					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.659A>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866144	0.51588	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.88354	-2.37;-2.37;-2.37	5.51	5.51	0.81932	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000003	D	0.88789	0.6532	M	0.66939	2.045	0.50632	D	0.99988	B;B	0.20459	0.045;0.026	B;B	0.28465	0.09;0.041	D	0.86497	0.1801	10	0.62326	D	0.03	-32.144	14.7613	0.69607	0.0:0.0:0.0:1.0	.	220;220	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	A	220	ENSP00000376238:E220A;ENSP00000339182:E220A;ENSP00000295548:E220A	ENSP00000295548:E220A	E	-	2	0	ATP13A4	194690292	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.352000	0.73027	2.232000	0.73038	0.467000	0.42956	GAA		0.338	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		4	131	0	0	0	1	0	4	131					G	193207598	T	G	193207598	3	3	495	1	0	0	0	0	1	0	0	0	1126	1783	62	5	3027	5	ATP13A4	3	193207598	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	14255513	193207598	4814832	9	39912											
EPHA5	2044	broad.mit.edu	37	chr4	66197690	66197690	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatcagaaaaattactcaCtccaaggtcacctgagccac	5	12	3	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:66197690C>T	ENST00000273854.3	-	17	3609		c.e17+1		EPHA5_ENST00000511294.1_Silent_p.E1004E|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						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						AAATTACTCACTCCAAGGTCA	0.408										TSP Lung(17;0.13)																												ENST00000273854.3																			0				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						c.e17+1		EPH receptor A5							80	80	80					4																	66197690		2203	4299	6502	SO:0001630	splice_region_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197690C>T	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.3008+1G>A	4.37:g.66197690C>T		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.E1004E|EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site		NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			17	3609	-								Q7Z3F2	Splice_Site	SNP	ENST00000273854.3	37		CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319044	0.81469	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA5	65880285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.744000	0.94065	0.561000	0.74099	.		0.408	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Intron	24	53	0	0	0	1	0	24	53					T	66197690	C	T	66197690	5	4	495	1	0	0	0	0	0	0	1	0	5170	579	20	2	112	2	EPHA5	4	66197690	Splice_Site	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		66197690	124956586	10	39913											
SCD5	79966	broad.mit.edu	37	chr4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttccatacatgtgggcgGcgctgttgaccagccagctg	14	11	0	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					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)				CATGTGGGCGGCGCTGTTGAC	0.562																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(721-723)gCc>gTc		stearoyl-CoA desaturase 5							132	114	120					4																	83557824		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83557824G>A	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.722C>T	4.37:g.83557824G>A	ENSP00000316329:p.Ala241Val						p.A241V	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			4	1041	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	241					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.722C>T	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128336	0.56721	.	.	ENSG00000145284	ENST00000319540	T	0.18338	2.22	5.08	3.25	0.37280	Fatty acid desaturase, type 1 (1);	0.148693	0.64402	N	0.000011	T	0.22898	0.0553	M	0.73372	2.23	0.80722	D	1	B	0.21381	0.055	B	0.32090	0.14	T	0.03112	-1.1071	10	0.39692	T	0.17	-6.526	11.1724	0.48579	0.1552:0.0:0.8448:0.0	.	241	Q86SK9	SCD5_HUMAN	V	241	ENSP00000316329:A241V	ENSP00000316329:A241V	A	-	2	0	SCD5	83776848	1.000000	0.71417	0.380000	0.26093	0.910000	0.53928	5.940000	0.70187	0.754000	0.32968	0.655000	0.94253	GCC		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		34	47	0	0	0	1	0	34	47					A	83557824	G	A	83557824	3	1	495	1	0	0	0	0	1	0	0	0	13887	1203	42	2	278	2	SCD5	4	83557824	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	17360134	83557824	107596452	11	39914											
EGF	1950	broad.mit.edu	37	chr4	110932374	110932374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atagggtcaatgcaaccaacTtcatggaggcaggagcccca	11	11	2	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGCAACCAACTTCATGGAGGC	0.453																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3385-3387)acT>acC		epidermal growth factor	Sulindac(DB00605)						58	62	60					4																	110932374		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932374T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3387T>C	4.37:g.110932374T>C						EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	p.T1129T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	3832	+		Hepatocellular(203;0.0893)	1129					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.3387T>C	CCDS3689.1																																																																																				0.453	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			30	23	0	0	0	1	0	30	23					C	110932374	T	C	110932374	2	2	495	1	0	0	0	0	0	0	0	1	4962	1596	56	3		3	EGF	4	110932374	Silent	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	27374550	110932374	80221902	12	39915											
PCDHB5	26167	broad.mit.edu	37	chr5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcttgctatattgttgCttttgtgggaggctggctct	12	6	2	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	22					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)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(64-66)Ctt>Ttt									102	91	95					5																	140515080		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515080C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.64C>T	5.37:g.140515080C>T	ENSP00000231134:p.Leu22Phe						p.L22F	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	281	+			22					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.64C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.177034	0.06380	.	.	ENSG00000113209	ENST00000231134	T	0.54479	0.57	5.37	-2.2	0.06994	.	.	.	.	.	T	0.37073	0.0990	L	0.48174	1.505	0.24126	N	0.995787	B	0.06786	0.001	B	0.13407	0.009	T	0.34527	-0.9825	9	0.09590	T	0.72	.	7.4182	0.27057	0.0:0.4142:0.1108:0.475	.	22	Q9Y5E4	PCDB5_HUMAN	F	22	ENSP00000231134:L22F	ENSP00000231134:L22F	L	+	1	0	PCDHB5	140495264	0.000000	0.05858	0.962000	0.40283	0.764000	0.43329	-2.577000	0.00909	-0.124000	0.11724	0.555000	0.69702	CTT		0.488	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		20	34	0	0	0	1	0	20	34					T	140515080	C	T	140515080	3	4	495	1	0	0	0	0	1	0	0	0	11545	797	28	2	66	2	PCDHB5	5	140515080	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		140515080	40400180	13	39916											
KIAA0319	9856	broad.mit.edu	37	chr6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcagggagttttggggCaggggttgaagccgactcat	15	8	3	1	rs377674724		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000378214.3	-	3	1200	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A217T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562																																						ENST00000535378.1																			1	Substitution - Missense(1)	p.A226T(1)	kidney(1)	breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(649-651)Gcc>Acc		KIAA0319							55	51	53					6																	24596226		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596226C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.676G>A	6.37:g.24596226C>T	ENSP00000367459:p.Ala226Thr					KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T	p.A217T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1291	-			226					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.649G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529049	0.13127	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.09	-0.0303	0.13915	.	1.262540	0.05663	N	0.587336	T	0.01092	0.0036	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.18561	0.022;0.015;0.01	T	0.48736	-0.9009	10	0.30078	T	0.28	-1.0065	2.1653	0.03835	0.1341:0.4937:0.1308:0.2414	.	226;217;226	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	226;217;181;226;226	ENSP00000439700:A226T;ENSP00000442403:A217T;ENSP00000401086:A181T;ENSP00000367459:A226T;ENSP00000437656:A226T	ENSP00000367459:A226T	A	-	1	0	KIAA0319	24704205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.246000	0.09611	-1.077000	0.02231	GCC		0.562	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		40	7	0	0	0	1	0	40	7					T	24596226	C	T	24596226	3	4	495	1	0	0	0	0	1	0	0	0	8168	710	25	2	2618	2	KIAA0319	6	24596226	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		24596226	146518841	14	39917											
SLC17A4	10050	broad.mit.edu	37	chr6	25769311	25769311	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcattgccatcccagctAtggtgaacaacacagcccca	8	14	0	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:25769311A>G	ENST00000377905.4	+	3	309	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V|SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	64					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCCCAGCTATGGTGAACAA	0.478																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(190-192)Atg>Gtg		solute carrier family 17, member 4							109	108	108					6																	25769311		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25769311A>G	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.190A>G	6.37:g.25769311A>G	ENSP00000367137:p.Met64Val					SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V|SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V	p.M64V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			3	309	+			64					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.190A>G	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776452	0.31411	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.77877	0.27;0.33;-1.13	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.418578	0.22840	N	0.054985	D	0.89636	0.6772	H	0.97291	3.975	0.23598	N	0.997325	P;P;D	0.67145	0.897;0.872;0.996	P;B;D	0.79108	0.675;0.392;0.992	D	0.85443	0.1156	10	0.87932	D	0	.	11.9836	0.53133	1.0:0.0:0.0:0.0	.	64;10;64	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	V	64;64;10	ENSP00000367137:M64V;ENSP00000391345:M64V;ENSP00000380266:M10V	ENSP00000367137:M64V	M	+	1	0	SLC17A4	25877290	0.999000	0.42202	0.956000	0.39512	0.375000	0.29983	5.532000	0.67154	2.146000	0.66826	0.460000	0.39030	ATG		0.478	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			20	36	0	0	0	1	0	20	36					G	25769311	A	G	25769311	3	3	495	1	0	0	0	0	1	0	0	0	14419	449	16	3	196	3	SLC17A4	6	25769311	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	1173085	25769311	145345756	15	39918											
GFRAL	389400	broad.mit.edu	37	chr6	55223800	55223800	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacttgttcaggaagTgatgactgcaaagctgctta	10	9	2	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:55223800T>A	ENST00000340465.2	+	6	902	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	272					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCAGGAAGTGATGACTGCA	0.433																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(814-816)agT>agA		GDNF family receptor alpha like							212	182	192					6																	55223800		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223800T>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.816T>A	6.37:g.55223800T>A	ENSP00000343636:p.Ser272Arg						p.S272R	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	902	+	Lung NSC(77;0.0875)|Renal(3;0.122)		272					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.816T>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.453549	0.26161	.	.	ENSG00000187871	ENST00000340465	T	0.32988	1.43	5.67	3.29	0.37713	GDNF/GAS1 (2);	0.390668	0.28595	N	0.014790	T	0.14227	0.0344	L	0.50333	1.59	0.20975	N	0.999817	P	0.35155	0.487	B	0.40228	0.323	T	0.11227	-1.0596	10	0.36615	T	0.2	-8.9122	9.3559	0.38166	0.0:0.2655:0.0:0.7345	.	272	Q6UXV0	GFRAL_HUMAN	R	272	ENSP00000343636:S272R	ENSP00000343636:S272R	S	+	3	2	GFRAL	55331759	0.995000	0.38212	0.103000	0.21229	0.441000	0.31987	0.564000	0.23563	0.431000	0.26258	0.455000	0.32223	AGT		0.433	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		8	90	0	0	0	1	0	8	90					A	55223800	T	A	55223800	3	1	495	1	0	0	0	0	1	0	0	0	6351	1693	59	5	838	5	GFRAL	6	55223800	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	29454489	55223800	115891267	16	39919											
TRRAP	8295	broad.mit.edu	37	chr7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgcctcccttcgagaagCaaggagaaaaggacaaggaa	12	10	0	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					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)			CTTCGAGAAGCAAGGAGAAAA	0.617																																						ENST00000359863.4																			0				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						c.(1588-1590)Caa>Gaa		transformation/transcription domain-associated protein							62	64	63					7																	98507916		2202	4300	6502	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98507916C>G	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.1588C>G	7.37:g.98507916C>G	ENSP00000352925:p.Gln530Glu					TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1797	+	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)		530					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1588C>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.905|4.905	0.168189|0.168189	0.09339|0.09339	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.42513|.	0.97;0.97|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Armadillo-type fold (1);|.	0.307386|.	0.33610|.	N|.	0.004738|.	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.00413|0.00413	-1.525|-1.525	0.40749|0.40749	D|D	0.982908|0.982908	B;B;B|.	0.10296|.	0.003;0.002;0.002|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.42464|0.42464	-0.9450|-0.9450	10|5	0.02654|.	T|.	1|.	.|.	20.3018|20.3018	0.98617|0.98617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	530;244;530|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	E|R	530|244	ENSP00000352925:Q530E;ENSP00000347733:Q530E|.	ENSP00000347733:Q530E|.	Q|S	+|+	1|3	0|2	TRRAP|TRRAP	98345852|98345852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.989000|2.989000	0.49393|0.49393	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CAA|AGC		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		32	40	0	0	0	1	0	32	40					G	98507916	C	G	98507916	3	3	495	1	0	0	0	0	1	0	0	0	16598	711	25	4	1642	4	TRRAP	7	98507916	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		98507916	60630747	17	39920											
EPHB4	2050	broad.mit.edu	37	chr7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacccgccattctcccGggccacgattttgaggctgg	10	16	2	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.R889W(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)					CCATTCTCCCGGGCCACGATT	0.637																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.R889W(1)	stomach(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						c.(2665-2667)Cgg>Ggg		EPH receptor B4							54	62	60					7																	100403136		2203	4299	6502	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403136G>C	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.2665C>G	7.37:g.100403136G>C	ENSP00000350896:p.Arg889Gly					EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			15	3133	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		889		R -> W (in a gastric adenocarcinoma sample; somatic mutation).	Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2665C>G	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256255	0.22965	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.76839	-1.05;-0.8	5.28	-2.03	0.07365	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000096	T	0.49012	0.1532	N	0.04297	-0.235	0.39613	D	0.969913	P;P	0.45531	0.86;0.778	B;B	0.35240	0.198;0.082	T	0.51332	-0.8719	10	0.14656	T	0.56	.	16.2608	0.82541	0.0:0.0:0.6744:0.3256	.	889;889	Q96L35;P54760	.;EPHB4_HUMAN	G	889	ENSP00000353833:R889G;ENSP00000350896:R889G	ENSP00000350896:R889G	R	-	1	2	EPHB4	100241072	0.993000	0.37304	0.989000	0.46669	0.954000	0.61252	0.163000	0.16520	-0.260000	0.09418	-0.397000	0.06425	CGG		0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		28	63	0	0	0	1	0	28	63					C	100403136	G	C	100403136	3	2	495	1	0	0	0	0	1	0	0	0	5177	1115	39	4	310	4	EPHB4	7	100403136	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	1895220	100403136	58735527	18	39921											
MYO3A	53904	broad.mit.edu	37	chr10	26315440	26315440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggcatccatcaatgcaTgggaggcacagaaaaggcca	11	10	1	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:26315440T>C	ENST00000265944.5	+	10	1098	c.932T>C	c.(931-933)aTg>aCg	p.M311T	MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	311					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|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)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCAATGCATGGGAGGCACA	0.333																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(931-933)aTg>aCg		myosin IIIA							74	69	71					10																	26315440		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26315440T>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.932T>C	10.37:g.26315440T>C	ENSP00000265944:p.Met311Thr					MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			10	1098	+			311					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.932T>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	2.899	-0.228027	0.06022	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.76316	-1.01;-0.77	5.76	-0.574	0.11738	Protein kinase-like domain (1);	0.561399	0.22461	N	0.059747	T	0.48926	0.1527	N	0.03281	-0.365	0.42336	D	0.992314	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16837	-1.0389	10	0.14656	T	0.56	.	9.4731	0.38856	0.0:0.369:0.0:0.6309	.	311;311;311	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	T	311	ENSP00000265944:M311T;ENSP00000445909:M311T	ENSP00000265944:M311T	M	+	2	0	MYO3A	26355446	1.000000	0.71417	0.113000	0.21522	0.991000	0.79684	1.098000	0.31000	-0.044000	0.13491	-0.290000	0.09829	ATG		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		9	66	0	0	0	1	0	9	66					C	26315440	T	C	26315440	3	2	495	1	0	0	0	0	1	0	0	0	10076	1464	51	3	962	3	MYO3A	10	26315440	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		26315440	109219307	19	39922											
SYT9	143425	broad.mit.edu	37	chr11	7439282	7439282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgaatcctgtttacaaCgaagccatagtctttgatgt	7	9	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:7439282C>T	ENST00000318881.6	+	5	1497	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	420	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGTTTACAACGAAGCCATAG	0.468																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1258-1260)aaC>aaT		synaptotagmin IX							181	151	161					11																	7439282		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7439282C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1260C>T	11.37:g.7439282C>T							p.N420N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	5	1497	+			420			C2 2.			Silent	SNP	ENST00000318881.6	37	c.1260C>T	CCDS7778.1																																																																																				0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		12	51	0	0	0	1	0	12	51					T	7439282	C	T	7439282	2	4	495	1	0	0	0	0	0	0	0	1	15478	535	19	1		1	SYT9	11	7439282	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		7439282	127567234	20	39923											
OR4C6	219432	broad.mit.edu	37	chr11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcagactcaatcatcAcacccatgttaaatcccttg	5	13	4	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(829-831)Aca>Gca		olfactory receptor, family 4, subfamily C, member 6							94	92	93					11																	55433471		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433471A>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.829A>G	11.37:g.55433471A>G	ENSP00000324769:p.Thr277Ala						p.T277A	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	858	+			277					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.829A>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300413	0.23650	.	.	ENSG00000181903	ENST00000314259	T	0.37752	1.18	4.0	-3.83	0.04269	GPCR, rhodopsin-like superfamily (1);	0.856054	0.09698	N	0.767401	T	0.31327	0.0793	M	0.73430	2.235	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.44221	-0.9342	10	0.54805	T	0.06	.	2.2777	0.04106	0.3835:0.1292:0.3607:0.1266	.	277	Q8NH72	OR4C6_HUMAN	A	277	ENSP00000324769:T277A	ENSP00000324769:T277A	T	+	1	0	OR4C6	55190047	0.000000	0.05858	0.001000	0.08648	0.841000	0.47740	-0.939000	0.03933	-0.704000	0.05042	0.433000	0.28618	ACA		0.453	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		42	54	0	0	0	1	0	42	54					G	55433471	A	G	55433471	3	3	495	1	0	0	0	0	1	0	0	0	11052	159	6	3	831	3	OR4C6	11	55433471	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	47994189	55433471	79573045	21	39924											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597514	64597514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtcagctgctgcacGcgccggcactcccccacctg	10	19	2	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:64597514G>A	ENST00000342711.5	-	30	3395	c.3396C>T	c.(3394-3396)cgC>cgT	p.R1132R	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						GCTGCTGCACGCGCCGGCACT	0.662																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3394-3396)cgC>cgT		CDC42 binding protein kinase gamma (DMPK-like)							27	28	28					11																	64597514		2200	4296	6496	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64597514G>A	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.3396C>T	11.37:g.64597514G>A							p.R1132R	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			30	3395	-			1132			CNH.			Silent	SNP	ENST00000342711.5	37	c.3396C>T	CCDS31601.1																																																																																				0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		14	22	0	0	0	1	0	14	22					A	64597514	G	A	64597514	2	1	495	1	0	0	0	0	0	0	0	1	3074	1074	38	1		1	CDC42BPG	11	64597514	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9164043	64597514	70409002	22	39925											
DSCAML1	57453	broad.mit.edu	37	chr11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagggccccgtgccagcccGattgaaggcttggaccacca	13	14	0	2	rs563772293		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3391-3393)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							105	86	92					11																	117335712		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335712G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3391C>T	11.37:g.117335712G>A	ENSP00000315465:p.Arg1131Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	p.R1131W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3392	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1071			Fibronectin type-III 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3391C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679154	0.68042	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58060	0.36;0.36	4.78	0.575	0.17374	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69788	0.3150	M	0.74389	2.26	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.72600	-0.4244	9	0.87932	D	0	.	14.4459	0.67349	0.0:0.0:0.4953:0.5047	.	1071	Q8TD84	DSCL1_HUMAN	W	861;1131;838	ENSP00000434335:R861W;ENSP00000315465:R1131W	ENSP00000315465:R1131W	R	-	1	2	DSCAML1	116840922	1.000000	0.71417	0.889000	0.34880	0.993000	0.82548	2.448000	0.44926	-0.047000	0.13423	-0.314000	0.08810	CGG		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		14	61	0	0	0	1	0	14	61					A	117335712	G	A	117335712	3	1	495	1	0	0	0	0	1	0	0	0	4769	1057	37	1	3018	1	DSCAML1	11	117335712	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	52738198	117335712	17670804	23	39926											
KRT73	319101	broad.mit.edu	37	chr12	53005016	53005016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacactctcaatctccgagCgcagtctttggatgagacgg	10	12	4	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:53005016C>T	ENST00000305748.3	-	6	1116	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	361	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AATCTCCGAGCGCAGTCTTTG	0.567																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1081-1083)cGc>cAc		keratin 73							146	126	133					12																	53005016		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53005016C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1082G>A	12.37:g.53005016C>T	ENSP00000307014:p.Arg361His					RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	p.R361H	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1116	-			361			Coil 2.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1082G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459794	0.43736	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;T	0.89050	-2.46;-1.13	5.61	3.8	0.43715	Filament (1);	0.000000	0.52532	D	0.000066	D	0.88757	0.6523	M	0.86420	2.815	0.27955	N	0.93699	B	0.27951	0.195	B	0.29524	0.103	D	0.83622	0.0140	10	0.62326	D	0.03	.	7.2549	0.26171	0.0:0.635:0.0:0.365	.	361	Q86Y46	K2C73_HUMAN	H	361;106	ENSP00000307014:R361H;ENSP00000449081:R106H	ENSP00000307014:R361H	R	-	2	0	KRT73	51291283	0.000000	0.05858	0.918000	0.36340	0.784000	0.44337	-0.178000	0.09782	0.866000	0.35629	0.555000	0.69702	CGC		0.567	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		21	70	0	0	0	1	0	21	70					T	53005016	C	T	53005016	3	4	495	1	0	0	0	0	1	0	0	0	8486	768	27	1	556	1	KRT73	12	53005016	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		53005016	80846879	24	39927											
TMTC3	160418	broad.mit.edu	37	chr12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatttattcctgcatcgaAccttttttttccagttggat	5	10	0	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1090-1092)aAc>aGc		transmembrane and tetratricopeptide repeat containing 3							135	127	130					12																	88566414		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88566414A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1091A>G	12.37:g.88566414A>G	ENSP00000266712:p.Asn364Ser						p.N364S	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1311	+			364					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1091A>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627275	0.87560	.	.	ENSG00000139324	ENST00000266712	T	0.65916	-0.18	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89143	0.3518	10	0.56958	D	0.05	-14.6343	15.6784	0.77349	1.0:0.0:0.0:0.0	.	364	Q6ZXV5-2	.	S	364	ENSP00000266712:N364S	ENSP00000266712:N364S	N	+	2	0	TMTC3	87090545	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.339000	0.96797	2.090000	0.63153	0.528000	0.53228	AAC		0.308	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		41	72	0	0	0	1	0	41	72					G	88566414	A	G	88566414	3	3	495	1	0	0	0	0	1	0	0	0	16259	43	2	3	1117	3	TMTC3	12	88566414	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	35561398	88566414	45285481	25	39928											
MSI1	4440	broad.mit.edu	37	chr12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtagccaggggcgaggCctgtataactccggctggcg	17	10	0	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(700-702)gGc>gTc		musashi RNA-binding protein 1							134	129	131					12																	120791134		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120791134C>A	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.701G>T	12.37:g.120791134C>A	ENSP00000257552:p.Gly234Val					MSI1_ENST00000546622.1_5'UTR	p.G234V	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			10	789	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.701G>T	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.641290|4.641290	0.87859|0.87859	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|T	.|0.32023	.|1.47	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.54464|0.54464	0.1860|0.1860	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64687	.|0.928	T|T	0.60989|0.60989	-0.7153|-0.7153	5|10	.|0.87932	.|D	.|0	.|.	17.8017|17.8017	0.88589|0.88589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|234	.|O43347	.|MSI1H_HUMAN	S|V	166|234	.|ENSP00000257552:G234V	.|ENSP00000257552:G234V	A|G	-|-	1|2	0|0	MSI1|MSI1	119275517|119275517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	7.276000|7.276000	0.78559|0.78559	2.166000|2.166000	0.68216|0.68216	0.455000|0.455000	0.32223|0.32223	GCC|GGC		0.612	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		43	54	1	0	6.61955e-31	1	7.44699e-31	43	54					A	120791134	C	A	120791134	3	1	495	1	0	0	0	0	1	0	0	0	9875	739	26	4	407	4	MSI1	12	120791134	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	32224720	120791134	13060761	26	39929											
ABCB9	23457	broad.mit.edu	37	chr12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctgatgggcttgccgTccagcagcacccggcccccc	13	18	0	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1696-1698)gAc>gGc		ATP-binding cassette, sub-family B (MDR/TAP), member 9							30	29	29					12																	123424704		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123424704T>C	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1697A>G	12.37:g.123424704T>C	ENSP00000440288:p.Asp566Gly					ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G	p.D566G			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	9	4535	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		566			ABC transporter.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1697A>G	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842851	0.91197	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448	D;D;D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	L	0.31578	0.945	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.997;0.999	D;D;D;D;D;D	0.87578	0.986;0.998;0.991;0.983;0.971;0.997	D	0.92233	0.5794	10	0.49607	T	0.09	-37.7606	14.4955	0.67683	0.0:0.0:0.0:1.0	.	503;173;566;285;523;566	B4E2J0;B4DFR8;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;.;ABCB9_HUMAN	G	566;503;523;566;566;566;110;192	ENSP00000280560:D566G;ENSP00000441734:D503G;ENSP00000280559:D523G;ENSP00000376234:D566G;ENSP00000440288:D566G;ENSP00000394898:D566G;ENSP00000442281:D110G;ENSP00000440244:D192G	ENSP00000280560:D566G	D	-	2	0	ABCB9	121990657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.868000	0.87116	2.022000	0.59522	0.383000	0.25322	GAC		0.632	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		6	6	0	0	0	1	0	6	6					C	123424704	T	C	123424704	3	2	495	1	0	0	0	0	1	0	0	0	48	1667	58	3	619	3	ABCB9	12	123424704	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	2633570	123424704	10427191	27	39930											
RTN1	6252	broad.mit.edu	37	chr14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-													gtgcttaacatacactacagGtagagtaaacattgaaacca					rs147040027		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)actctacctfs	p.LP735fs	RTN1_ENST00000395090.1_Frame_Shift_Del_p.LP152fs|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Frame_Shift_Del_p.LP167fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	735	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.P736S(1)	lung(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(2200-2208)acctfs		reticulon 1																																				SO:0001589	frameshift_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069953_60069957delGTAGA	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2202_2206delTCTAC	14.37:g.60069953_60069957delGTAGA	ENSP00000267484:p.Leu735fs					RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Frame_Shift_Del_p.TLP151fs|RTN1_ENST00000342503.4_Frame_Shift_Del_p.TLP166fs	p.TLP734fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2537_2541	-			734			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Frame_Shift_Del	DEL	ENST00000267484.5	37	c.2202_2206delTCTAC	CCDS9740.1																																																																																				0.298	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			13	53						13	53	---	---	---	---	-	60069957	GTAGA	-	60069953	7	5	495	1	0	1	0	1	0	0	0	0	13725	1261	44	0	136	0	RTN1	14	60069953	Frame_Shift_Del	DEL	GTAGA	TCGA-TQ-A8XE-01A-11D-A36O-08		60069953	47279587	28	39931											
HERC2	8924	broad.mit.edu	37	chr15	28437207	28437207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcaggctcttcaccatgCgggaccagctgtccagcagc	10	15	3	0	rs371697885		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr15:28437207C>T	ENST00000261609.7	-	53	8459	c.8351G>A	c.(8350-8352)cGc>cAc	p.R2784H		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)		CTTCACCATGCGGGACCAGCT	0.587											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261609.7																			0				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						c.(8350-8352)cGc>cAc		HECT and RLD domain containing E3 ubiquitin protein ligase 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	153	142	146		8351	5.5	1	15		146	0,8600		0,0,4300	no	missense	HERC2	NM_004667.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2784/4835	28437207	1,13005	2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28437207C>T	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.8351G>A	15.37:g.28437207C>T	ENSP00000261609:p.Arg2784His		OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.R2784H	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		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)	53	8459	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2784			DOC.			Missense_Mutation	SNP	ENST00000261609.7	37	c.8351G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626472	0.96671	2.27E-4	0.0	ENSG00000128731	ENST00000261609	T	0.64438	-0.1	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.056846	0.64402	D	0.000003	T	0.77791	0.4183	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.85130	0.862;0.997	T	0.77498	-0.2565	10	0.56958	D	0.05	.	19.7682	0.96350	0.0:1.0:0.0:0.0	.	251;2784	A8KAQ8;O95714	.;HERC2_HUMAN	H	2784	ENSP00000261609:R2784H	ENSP00000261609:R2784H	R	-	2	0	HERC2	26110802	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.013000	0.70776	2.744000	0.94065	0.573000	0.79308	CGC		0.587	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	191	0	0	0	1	0	4	191					T	28437207	C	T	28437207	3	4	495	1	0	0	0	0	1	0	0	0	7058	768	27	1	6317	1	HERC2	15	28437207	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		28437207	74094185	29	39932											
GPR97	222487	broad.mit.edu	37	chr16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattggaccaggcccactccGcatctcaagaataggaaggc	11	12	1	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1636-1638)Gca>Aca		G protein-coupled receptor 97							131	118	123					16																	57722359		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57722359G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1636G>A	16.37:g.57722359G>A	ENSP00000332900:p.Ala546Thr					GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	p.A546T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			12	1797	+			546					Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.1636G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	8.952	0.968341	0.18659	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.28895	1.59;1.61	5.53	-5.82	0.02333	.	.	.	.	.	T	0.10551	0.0258	N	0.04508	-0.205	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.31503	-0.9941	9	0.21540	T	0.41	.	7.6282	0.28224	0.5974:0.0:0.2772:0.1254	.	546	Q86Y34	GPR97_HUMAN	T	546;426	ENSP00000332900:A546T;ENSP00000404803:A426T	ENSP00000332900:A546T	A	+	1	0	GPR97	56279860	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.872000	0.04219	-1.213000	0.02617	-0.367000	0.07326	GCA		0.552	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		33	38	0	0	0	1	0	33	38					A	57722359	G	A	57722359	3	1	495	1	0	0	0	0	1	0	0	0	6720	1087	38	1	1682	1	GPR97	16	57722359	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		57722359	32632394	30	39933											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2	rs397516435		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	12	0	0	0	1	0	33	12					A	7578263	G	A	7578263	4	1	495	1	0	0	0	0	0	1	0	0	16378	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		7578263	73616947	31	39934											
SLC5A10	125206	broad.mit.edu	37	chr17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccctgcagacgctcaTcatggtggtgggggctgtca	16	11	3	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395645.3	+	7	623	c.605T>C	c.(604-606)aTc>aCc	p.I202T	SLC5A10_ENST00000395647.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					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)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637																																						ENST00000395647.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(604-606)aTc>aCc		solute carrier family 5 (sodium/sugar cotransporter), member 10							56	64	62					17																	18872700		2165	4276	6441	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872700T>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.605T>C	17.37:g.18872700T>C	ENSP00000379007:p.Ile202Thr					FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron	p.I202T	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN			7	646	+			202					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.605T>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427568	0.83667	.	.	ENSG00000154025	ENST00000395647;ENST00000417251;ENST00000395645	D;D;D	0.89681	-2.55;-2.55;-2.55	4.94	4.94	0.65067	.	0.180867	0.34314	U	0.004079	D	0.94876	0.8344	H	0.94462	3.54	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.954	P;P;P	0.56216	0.794;0.794;0.786	D	0.96174	0.9125	10	0.87932	D	0	.	14.5635	0.68156	0.0:0.0:0.0:1.0	.	202;202;202	B4DPI0;A0PJK1;A0PJK1-4	.;SC5AA_HUMAN;.	T	202	ENSP00000379008:I202T;ENSP00000401875:I202T;ENSP00000379007:I202T	ENSP00000379007:I202T	I	+	2	0	SLC5A10	18813425	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.926000	0.63433	1.998000	0.58463	0.459000	0.35465	ATC		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		31	44	0	0	0	1	0	31	44					C	18872700	T	C	18872700	3	2	495	1	0	0	0	0	1	0	0	0	14662	1435	50	3	631	3	SLC5A10	17	18872700	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	11294437	18872700	62322510	32	39935											
RTTN	25914	broad.mit.edu	37	chr18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaataaacatgactgcAgaagcctggacaaagaggat	9	10	0	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692					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)				ACATGACTGCAGAAGCCTGGA	0.418																																						ENST00000255674.6																			0				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						c.(5074-5076)cTg>cCg		rotatin							64	60	61					18																	67721477		1872	4101	5973	SO:0001583	missense	25914						binding	g.chr18:67721477A>G	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.5075T>C	18.37:g.67721477A>G	ENSP00000255674:p.Leu1692Pro					RTTN_ENST00000454359.1_3'UTR	p.L1692P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			38	5361	-		Esophageal squamous(42;0.129)	1692					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.5075T>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609222	0.66558	.	.	ENSG00000176225	ENST00000255674	T	0.61627	0.09	5.32	5.32	0.75619	.	0.388092	0.24664	N	0.036602	T	0.74107	0.3673	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77096	-0.2714	10	0.87932	D	0	.	13.0891	0.59158	1.0:0.0:0.0:0.0	.	1692	Q86VV8	RTTN_HUMAN	P	1692	ENSP00000255674:L1692P	ENSP00000255674:L1692P	L	-	2	0	RTTN	65872457	0.986000	0.35501	0.993000	0.49108	0.797000	0.45037	5.447000	0.66606	2.132000	0.65825	0.482000	0.46254	CTG		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		15	24	0	0	0	1	0	15	24					G	67721477	A	G	67721477	3	3	495	1	0	0	0	0	1	0	0	0	13737	188	7	3	1653	3	RTTN	18	67721477	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08		67721477	10355771	33	39936											
CD209	30835	broad.mit.edu	37	chr19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccacttctttgcaggCggtgatggagtcgtgccagt	14	12	1	1	rs139712001		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17657	0.0		0.0	False		,,,				2504	0.0					ENST00000315599.7																			1	Substitution - Missense(1)	p.A283T(1)	large_intestine(1)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(847-849)Gcc>Acc		CD209 molecule		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	9.9+/-24.2	0,4,2199	85	81	82		439,715,571,775,847,364,847	-0.1	0	19	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,8,6495	TT,TC,CC		0.0465,0.0908,0.0615	benign,benign,benign,benign,benign,benign,benign	147/269,239/361,191/313,259/381,283/399,122/244,283/405	7809880	8,12998	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809880C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.847G>A	19.37:g.7809880C>T	ENSP00000315477:p.Ala283Thr					CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T	p.A283T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			5	869	-			283			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.847G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007084	0.35415	9.08E-4	4.65E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	3.29	-0.0555	0.13809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.27169	0.0666	L	0.45581	1.43	0.09310	N	1	D;D;P;D;P;P;D;D;D;P;D	0.89917	1.0;1.0;0.955;0.998;0.909;0.918;0.98;1.0;0.999;0.956;1.0	D;D;P;D;B;P;B;D;D;B;D	0.97110	0.955;0.967;0.799;0.964;0.234;0.522;0.421;1.0;0.951;0.345;0.996	T	0.13176	-1.0519	9	0.87932	D	0	.	2.7211	0.05201	0.2253:0.5221:0.0:0.2526	.	283;283;259;239;147;259;191;283;213;259;283	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	283;283;259;239;191;147;267	ENSP00000315477:A283T;ENSP00000346373:A283T;ENSP00000315407:A259T;ENSP00000204801:A239T;ENSP00000301357:A147T	ENSP00000204801:A239T	A	-	1	0	CD209	7715880	0.006000	0.16342	0.007000	0.13788	0.027000	0.11550	-0.132000	0.10467	0.085000	0.17107	0.455000	0.32223	GCC		0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	59	0	0	0	1	0	5	59					T	7809880	C	T	7809880	3	4	495	1	0	0	0	0	1	0	0	0	2984	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		7809880	51319103	34	39937											
CYP2A7	1549	broad.mit.edu	37	chr19	41382446	41382446	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccgatggaaaagggcAcaaaagcatcactcttctta	7	10	4	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:41382446A>G	ENST00000301146.4	-	8	1830	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	430						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)			GGAAAAGGGCACAAAAGCATC	0.567																																						ENST00000301146.4																			0				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						c.(1288-1290)gTg>gCg		cytochrome P450, family 2, subfamily A, polypeptide 7							181	158	165					19																	41382446		2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41382446A>G	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.1289T>C	19.37:g.41382446A>G	ENSP00000301146:p.Val430Ala					CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	p.V430A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		8	1830	-			430					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1289T>C	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108491	0.37242	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69435	-0.4;-0.4	2.18	2.18	0.27775	.	0.340068	0.25994	U	0.026998	T	0.72953	0.3525	L	0.52206	1.635	0.25295	N	0.989324	D;D;D	0.63880	0.993;0.982;0.968	D;P;P	0.69824	0.966;0.782;0.814	T	0.62167	-0.6911	10	0.87932	D	0	.	9.0853	0.36577	1.0:0.0:0.0:0.0	.	430;379;430	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	A	430;379	ENSP00000301146:V430A;ENSP00000291764:V379A	ENSP00000291764:V379A	V	-	2	0	CYP2A7	46074286	0.968000	0.33430	0.124000	0.21820	0.380000	0.30137	8.081000	0.89511	1.001000	0.39076	0.155000	0.16302	GTG		0.567	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		9	73	0	0	0	1	0	9	73					G	41382446	A	G	41382446	3	3	495	1	0	0	0	0	1	0	0	0	4163	159	6	3	203	3	CYP2A7	19	41382446	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	33572566	41382446	17746537	35	39938											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgagggcttttccctccCggaaccagctcagtgaggca	12	12	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597																																						ENST00000360844.6																			2	Substitution - Missense(2)	p.R281L(1)|p.R288L(1)	kidney(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(862-864)cGg>cAg		sialic acid binding Ig-like lectin 14							38	43	41					19																	52147181		1848	4055	5903	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147181C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.863G>A	19.37:g.52147181C>T	ENSP00000354090:p.Arg288Gln					SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	p.R288Q	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	904	-		all_neural(266;0.0299)	288			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.863G>A	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178521	0.09443	.	.	ENSG00000254415	ENST00000360844	T	0.12879	2.64	3.09	-6.17	0.02091	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.164860	0.02702	N	0.111867	T	0.09024	0.0223	L	0.48935	1.535	0.09310	N	1	B	0.25904	0.137	B	0.21360	0.034	T	0.24404	-1.0161	10	0.19590	T	0.45	.	0.4252	0.00462	0.3758:0.1709:0.132:0.3213	.	288	Q08ET2	SIG14_HUMAN	Q	288	ENSP00000354090:R288Q	ENSP00000354090:R288Q	R	-	2	0	SIGLEC14	56838993	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.913000	0.01580	-1.498000	0.01824	-0.251000	0.11542	CGG		0.597	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		28	4	0	0	0	1	0	28	4					T	52147181	C	T	52147181	3	4	495	1	0	0	0	0	1	0	0	0	14309	652	23	1	339	1	SIGLEC14	19	52147181	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	10764735	52147181	6981802	36	39939											
TPX2	22974	broad.mit.edu	37	chr20	30371533	30371533	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattcaaagcacgtgaacttGatcccagaatacttgaaggt	8	8	1	4			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30371533G>A	ENST00000300403.6	+	12	1750	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	TPX2_ENST00000340513.4_Missense_Mutation_p.D444N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	408					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACGTGAACTTGATCCCAGAAT	0.363																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1330-1332)Gat>Aat		TPX2, microtubule-associated							69	74	72					20																	30371533		2203	4299	6502	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30371533G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1222G>A	20.37:g.30371533G>A	ENSP00000300403:p.Asp408Asn					TPX2_ENST00000300403.6_Missense_Mutation_p.D408N	p.D444N			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		13	1858	+			408					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1330G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890844	0.72524	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.24723	1.84	5.7	5.7	0.88788	.	0.052367	0.64402	D	0.000001	T	0.34542	0.0901	L	0.28608	0.87	0.48975	D	0.999737	D;P	0.89917	1.0;0.906	D;P	0.91635	0.999;0.649	T	0.03184	-1.1063	10	0.08179	T	0.78	-19.2436	14.0584	0.64784	0.0739:0.0:0.9261:0.0	.	444;408	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	408;444	ENSP00000341145:D444N	ENSP00000300403:D408N	D	+	1	0	TPX2	29835194	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.594000	0.46189	2.683000	0.91414	0.650000	0.86243	GAT		0.363	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			10	114	0	0	0	1	0	10	114					A	30371533	G	A	30371533	3	1	495	1	0	0	0	0	1	0	0	0	16429	1290	45	2	1260	2	TPX2	20	30371533	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		30371533	32653987	37	39940											
FOXS1	2307	broad.mit.edu	37	chr20	30432396	30432396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccggtataggcaggggGtcagccccaatgggtagccg	17	11	1	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30432396G>T	ENST00000375978.3	-	1	1024	c.950C>A	c.(949-951)aCc>aAc	p.T317N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	317					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|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)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TAGGCAGGGGGTCAGCCCCAA	0.647																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(949-951)aCc>aAc		forkhead box S1							44	46	45					20																	30432396		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432396G>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.950C>A	20.37:g.30432396G>T	ENSP00000365145:p.Thr317Asn						p.T317N	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	1024	-			317					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.950C>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173150	0.38413	.	.	ENSG00000179772	ENST00000375978	D	0.92752	-3.1	4.54	4.54	0.55810	.	0.301816	0.23396	N	0.048629	D	0.86711	0.5998	N	0.24115	0.695	0.24632	N	0.993619	B	0.11235	0.004	B	0.06405	0.002	T	0.79019	-0.1974	10	0.56958	D	0.05	.	15.9992	0.80275	0.0:0.0:1.0:0.0	.	317	O43638	FOXS1_HUMAN	N	317	ENSP00000365145:T317N	ENSP00000365145:T317N	T	-	2	0	FOXS1	29896057	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.718000	0.61930	2.350000	0.79820	0.462000	0.41574	ACC		0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		13	32	1	0	1.5842e-08	1	1.72077e-08	13	32					T	30432396	G	T	30432396	3	4	495	1	0	0	0	0	1	0	0	0	6035	1261	44	4	46	4	FOXS1	20	30432396	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	60863	30432396	32593124	38	39941											
CSF2RB	1439	broad.mit.edu	37	chr22	37333970	37333970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgaggaccctggagTggcctctggttatgtctcct	13	11	2	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:37333970T>C	ENST00000403662.3	+	14	2342	c.2120T>C	c.(2119-2121)gTg>gCg	p.V707A	CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V713A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	707					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTGGAGTGGCCTCTGGT	0.612																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2137-2139)gTg>gCg		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						67	75	73					22																	37333970		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333970T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2120T>C	22.37:g.37333970T>C	ENSP00000384053:p.Val707Ala					CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V707A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A	p.V713A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	2355	+			707					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.2138T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	2.719	-0.267037	0.05754	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91631	-2.37;-2.88;-2.88;-2.88	5.22	-0.938	0.10412	.	1.507890	0.04499	N	0.380870	D	0.82296	0.5006	N	0.21448	0.665	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.10450	0.003;0.005	T	0.68671	-0.5347	10	0.08179	T	0.78	-3.7683	2.9653	0.05906	0.296:0.2573:0.0:0.4467	.	713;707	P32927-2;P32927	.;IL3RB_HUMAN	A	707;707;713;713;654	ENSP00000384053:V707A;ENSP00000262825:V713A;ENSP00000385271:V713A;ENSP00000440003:V654A	ENSP00000262825:V713A	V	+	2	0	CSF2RB	35663916	0.000000	0.05858	0.171000	0.22900	0.005000	0.04900	-1.134000	0.03228	0.009000	0.14813	-2.272000	0.00274	GTG		0.612	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		11	40	0	0	0	1	0	11	40					C	37333970	T	C	37333970	3	2	495	1	0	0	0	0	1	0	0	0	3935	1696	59	3	2170	3	CSF2RB	22	37333970	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		37333970	13970596	39	39942											
MXRA5	25878	broad.mit.edu	37	chrX	3241758	3241758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaatggtctgccccttgCtggttgacagccacacatct	9	12	2	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					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)				CTGCCCCTTGCTGGTTGACAG	0.493																																						ENST00000217939.6																			0				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						c.(1966-1968)caG>caA		matrix-remodelling associated 5							97	84	89					X																	3241758		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3241758C>T	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.1968G>A	X.37:g.3241758C>T							p.Q656Q	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2122	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	656			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1968G>A	CCDS14124.1																																																																																				0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		45	149	0	0	0	1	0	45	149					T	3241758	C	T	3241758	2	4	495	1	0	0	0	0	0	0	0	1	10003	796	28	2		2	MXRA5	23	3241758	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		3241758	152028802	40	39943											
TIMP1	7076	broad.mit.edu	37	chrX	47442890	47442890	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcagggcctgcaccTgtgtcccaccccacccacag	8	22	0	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000218388.4	+	2	246	c.76T>A	c.(76-78)Tgt>Agt	p.C26S	SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000377018.2_De_novo_Start_InFrame|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S|SYN1_ENST00000340666.4_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	26	Involved in metalloproteinase-binding.|NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622																																						ENST00000377018.2																			0				endometrium(1)|large_intestine(2)	3								TIMP metallopeptidase inhibitor 1							112	93	100					X																	47442890		2203	4300	6503	SO:0001583	missense	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47442890T>A		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.76T>A	X.37:g.47442890T>A	ENSP00000218388:p.Cys26Ser					SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron				P01033	TIMP1_HUMAN			0	222	+								Q14252|Q9UCU1	Translation_Start_Site	SNP	ENST00000218388.4	37		CCDS14281.1	.	.	.	.	.	.	.	.	.	.	-	16.69	3.192397	0.58017	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000441738	D;D;D	0.99914	-7.98;-7.98;-7.98	3.29	3.29	0.37713	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.48767	D	0.000162	D	0.99910	0.9957	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96306	0.9225	10	0.59425	D	0.04	.	9.2196	0.37368	0.0:0.0:0.0:1.0	.	26	P01033	TIMP1_HUMAN	S	26;26;38	ENSP00000218388:C26S;ENSP00000406671:C26S;ENSP00000405380:C38S	ENSP00000218388:C26S	C	+	1	0	TIMP1	47327834	1.000000	0.71417	0.966000	0.40874	0.315000	0.28087	5.222000	0.65277	1.529000	0.49120	0.433000	0.28618	TGT		0.622	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		28	32	0	0	0	1	0	28	32					A	47442890	T	A	47442890	3	1	495	1	0	0	0	0	1	0	0	0	15914	1580	55	5	78	5	TIMP1	23	47442890	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	44201132	47442890	107827670	41	39944											
TRMT2B	79979	broad.mit.edu	37	chrX	100275475	100275475	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagactgtaagctgtgtaCcattgaaggctgcagtccat	10	10	0	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000372936.3	-	11	1941		c.e11+1		TRMT2B_ENST00000372939.1_Splice_Site|TRMT2B_ENST00000338687.7_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)							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						AAGCTGTGTACCATTGAAGGC	0.488																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e10+1		tRNA methyltransferase 2 homolog B (S. cerevisiae)							148	124	132					X																	100275475		2203	4300	6503	SO:0001630	splice_region_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100275475C>A	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.1168+1G>T	X.37:g.100275475C>A						TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site				Q96GJ1	TRM2_HUMAN			10	1839	-								A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Splice_Site	SNP	ENST00000372936.3	37		CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630294	0.14257	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	.	.	.	4.55	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6413	0.45594	0.3476:0.6524:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRMT2B	100162131	1.000000	0.71417	0.973000	0.42090	0.130000	0.20726	1.767000	0.38501	0.294000	0.22547	-0.224000	0.12420	.		0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917	Intron	58	90	1	0	4.17463e-26	1	4.61406e-26	58	90					A	100275475	C	A	100275475	5	1	495	1	0	0	0	0	0	0	1	0	16563	521	18	4	361	4	TRMT2B	23	100275475	Splice_Site	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	52832585	100275475	54995085	42	39945											
MST4	51765	broad.mit.edu	37	chrX	131207081	131207109	+	Frame_Shift_Del	DEL	ACAGATAAAATGGTGAAGAAACTAATTGA	ACAGATAAAATGGTGAAGAAACTAATTGA	-													aagccgcctgtcccggcatcAcagataaaatggtgaagaaa							TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA	ENST00000354719.6	+	10	1330_1358	c.1114_1142delACAGATAAAATGGTGAAGAAACTAATTGA	c.(1114-1143)acagataaaatggtgaagaaactaattgaafs	p.TDKMVKKLIE372fs	MST4_ENST00000394335.2_Frame_Shift_Del_p.TDKMVKKLIE319fs|MST4_ENST00000496850.1_Frame_Shift_Del_p.TDKMVKKLIE334fs|MST4_ENST00000481105.1_Frame_Shift_Del_p.TDKMVKKLIE418fs|MST4_ENST00000394334.2_Frame_Shift_Del_p.TDKMVKKLIE396fs																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCCCGGCATCACAGATAAAATGGTGAAGAAACTAATTGAAAAATTTCAA	0.358																																						ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1186-1215)afs																																						SO:0001589	frameshift_variant	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA																												ENST00000354719.6:c.1114_1142delACAGATAAAATGGTGAAGAAACTAATTGA	X.37:g.131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA	ENSP00000346755:p.Thr372fs					MST4_ENST00000496850.1_Frame_Shift_Del_p.TDKMVKKLIE334fs|MST4_ENST00000481105.1_Frame_Shift_Del_p.TDKMVKKLIE418fs|MST4_ENST00000354719.6_Frame_Shift_Del_p.TDKMVKKLIE372fs|MST4_ENST00000394335.2_Frame_Shift_Del_p.TDKMVKKLIE319fs	p.TDKMVKKLIE396fs	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			11	1439_1467	+	Acute lymphoblastic leukemia(192;0.000127)		396						Frame_Shift_Del	DEL	ENST00000354719.6	37	c.1186_1214delACAGATAAAATGGTGAAGAAACTAATTGA																																																																																					0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			8	146						8	146	---	---	---	---	-	131207109	ACAGATAAAATGGTGAAGAAACTAATTGA	-	131207081	7	5	495	1	0	1	0	1	0	0	0	0	9892	159	6	0	1224	0	MST4	23	131207081	Frame_Shift_Del	DEL	ACAGATAAAATGGTGAAGAAACTAATTGA	TCGA-TQ-A8XE-01A-11D-A36O-08	30931606	131207081	24063479	43	39946											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	568	0	0	0	1	0	6	568					A	140994960	G	A	140994960	2	1	495	1	0	0	0	0	0	0	0	1	9180	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9787879	140994960	14275600	44	39947											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	147	0	0	0	1	0	6	147					A	150156360	G	A	150156360	2	1	495	1	0	0	0	0	0	0	0	1	7227	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9161400	150156360	5114200	45	39948											
OPN1MW	728458	broad.mit.edu	37	chrX	153496073	153496073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagagaaggaagtgacGcgcatggtggtggtgatggt	19	4	0	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:153496073G>A	ENST00000369929.4	+	5	861	c.801G>A	c.(799-801)acG>acA	p.T267T	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	267					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)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	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)					AGGAAGTGACGCGCATGGTGG	0.582																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(799-801)acG>acA		opsin 1 (cone pigments), medium-wave-sensitive 2							158	109	126					X																	153496073		2100	3786	5886	SO:0001819	synonymous_variant	728458							g.chrX:153496073G>A		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"GPCR / Class A : Opsin receptors"	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.801G>A	X.37:g.153496073G>A						OPN1MW2_ENST00000488220.1_3'UTR	p.T267T	NM_001048181.2	NP_001041646.1					5	861	+	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)								Silent	SNP	ENST00000369929.4	37	c.801G>A	CCDS35447.1																																																																																				0.582	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		12	502	0	0	0	1	0	12	502					A	153496073	G	A	153496073	2	1	495	1	0	0	0	0	0	0	0	1	10878	1074	38	1		1	OPN1MW	23	153496073	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	3339713	153496073	1774487	46	39949											
TMLHE	55217	broad.mit.edu	37	chrX	154736769	154736769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccaccagttccttcaTgtttaagacaatgaaacact	5	12	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					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)	AGTTCCTTCATGTTTAAGACA	0.363																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(784-786)cAt>cGt		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						111	108	109					X																	154736769		2203	4298	6501	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736769T>C	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.785A>G	X.37:g.154736769T>C	ENSP00000335261:p.His262Arg					TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			6	930	-	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)		262					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.785A>G	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615264	0.66672	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82255	-1.59;-1.59	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.76838	2.35	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.69824	0.961;0.966;0.966	D	0.89609	0.3840	10	0.52906	T	0.07	-13.1246	11.0237	0.47732	0.0:0.0:0.0:1.0	.	262;262;262	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	R	262	ENSP00000335261:H262R;ENSP00000358447:H262R	ENSP00000335261:H262R	H	-	2	0	TMLHE	154389963	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.873000	0.75541	1.568000	0.49683	0.402000	0.26972	CAT		0.363	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		76	184	0	0	0	1	0	76	184					C	154736769	T	C	154736769	3	2	495	1	0	0	0	0	1	0	0	0	16229	1464	51	3	632	3	TMLHE	23	154736769	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	1240696	154736769	533791	47	39950											
SESN2	83667	broad.mit.edu	37	chr1	28599885	28599885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggctttgagtctgcccGcgacgtggaggcgctgatgg	18	10	1	2	rs371066600		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:28599885G>A	ENST00000253063.3	+	6	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	256					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)		GAGTCTGCCCGCGACGTGGAG	0.652																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(766-768)cGc>cAc		sestrin 2		G	HIS/ARG	0,4406		0,0,2203	22	26	25		767	2.3	0	1		25	2,8598	2.2+/-6.3	0,2,4298	no	missense	SESN2	NM_031459.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	256/481	28599885	2,13004	2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599885G>A	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.767G>A	1.37:g.28599885G>A	ENSP00000253063:p.Arg256His						p.R256H	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		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)	6	1088	+		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)	256					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.767G>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453792	0.12283	0.0	2.33E-4	ENSG00000130766	ENST00000253063	T	0.22539	1.95	5.23	2.32	0.28847	.	0.436137	0.24810	N	0.035420	T	0.17874	0.0429	N	0.19112	0.55	0.09310	N	1	D	0.54207	0.965	P	0.52710	0.707	T	0.04976	-1.0914	10	0.40728	T	0.16	-8.0054	6.094	0.20010	0.4154:0.0:0.5846:0.0	.	256	P58004	SESN2_HUMAN	H	256	ENSP00000253063:R256H	ENSP00000253063:R256H	R	+	2	0	SESN2	28472472	0.005000	0.15991	0.022000	0.16811	0.135000	0.20990	0.790000	0.26900	0.592000	0.29728	0.491000	0.48974	CGC		0.652	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			4	14	0	0	0	1	0	4	14					A	28599885	G	A	28599885	3	1	496	1	0	0	0	0	1	0	0	0	14125	1087	38	1	789	1	SESN2	1	28599885	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		28599885	220650736	1	39951											
GJB4	127534	broad.mit.edu	37	chr1	35227307	35227307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctatatcttccaccGcctctacaaggattatgaca	4	14	3	1	rs370286559		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:35227307G>A	ENST00000339480.1	+	2	822	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	151					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATCTTCCACCGCCTCTACAAG	0.597																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(451-453)cGc>cAc		gap junction protein, beta 4, 30.3kDa							59	50	53					1																	35227307		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227307G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.452G>A	1.37:g.35227307G>A	ENSP00000345868:p.Arg151His					RP1-34M23.5_ENST00000542839.1_RNA	p.R151H	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	822	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	151					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.452G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360222	0.41801	.	.	ENSG00000189433	ENST00000339480	D	0.95205	-3.64	5.73	1.79	0.24919	Gap junction protein, cysteine-rich domain (1);	0.176980	0.50627	D	0.000107	D	0.86477	0.5942	N	0.17800	0.525	0.19775	N	0.99995	B	0.14012	0.009	B	0.13407	0.009	T	0.73886	-0.3841	10	0.30854	T	0.27	.	6.4569	0.21934	0.2628:0.0:0.6188:0.1184	.	151	Q9NTQ9	CXB4_HUMAN	H	151	ENSP00000345868:R151H	ENSP00000345868:R151H	R	+	2	0	GJB4	34999894	0.002000	0.14202	0.957000	0.39632	0.977000	0.68977	0.195000	0.17155	0.090000	0.17273	-0.121000	0.15023	CGC		0.597	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		24	34	0	0	0	1	0	24	34					A	35227307	G	A	35227307	3	1	496	1	0	0	0	0	1	0	0	0	6410	1087	38	1	454	1	GJB4	1	35227307	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	6627422	35227307	214023314	2	39952											
CLCA4	22802	broad.mit.edu	37	chr1	87031502	87031502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggttgttgaattttgtaaCgaaaaaacccataatcaaga	7	5	1	2	rs199899112		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:87031502C>T	ENST00000370563.3	+	6	795	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16264	0.0		0.0	False		,,,				2504	0.0					ENST00000370563.3																			1	Substitution - coding silent(1)	p.N251N(1)	ovary(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(751-753)aaC>aaT		chloride channel accessory 4		C		1,3603		0,1,1801	62	55	57		753	-1.6	0.1	1		57	0,8132		0,0,4066	no	coding-synonymous	CLCA4	NM_012128.3		0,1,5867	TT,TC,CC		0.0,0.0277,0.0085		251/920	87031502	1,11735	1802	4066	5868	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031502C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.753C>T	1.37:g.87031502C>T						CLCA4_ENST00000263723.5_5'UTR	p.N251N	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	795	+		Lung NSC(277;0.238)	251					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.753C>T	CCDS41355.1																																																																																				0.269	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		8	47	0	0	0	1	0	8	47					T	87031502	C	T	87031502	2	4	496	1	0	0	0	0	0	0	0	1	3459	535	19	1		1	CLCA4	1	87031502	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	51804195	87031502	162219119	3	39953											
CRTC2	200186	broad.mit.edu	37	chr1	153924030	153924030	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggcaggcagagaGgggtggctgtgggagccctg	22	6	0	1	rs544579417		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:153924030G>C	ENST00000368633.1	-	11	1237	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	CRTC2_ENST00000368630.3_Silent_p.P50P|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	370	Ser-rich.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCAGAGAGGGGTGGCTGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001					ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1108-1110)ccC>ccG		CREB regulated transcription coactivator 2							62	67	65					1																	153924030		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924030G>C	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1110C>G	1.37:g.153924030G>C						CRTC2_ENST00000368630.3_Silent_p.P50P	p.P370P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1237	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		370			Ser-rich.		Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.1110C>G	CCDS30875.1																																																																																				0.652	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		12	45	0	0	0	1	0	12	45					C	153924030	G	C	153924030	2	2	496	1	0	0	0	0	0	0	0	1	3900	987	35	4		4	CRTC2	1	153924030	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	66892528	153924030	95326591	4	39954											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					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)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	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.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		3	42	0	0	0	1	0	3	42					A	162769603	G	A	162769603	3	1	496	1	0	0	0	0	1	0	0	0	7388	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	8845573	162769603	86481018	5	39955											
SRD5A2	0	broad.mit.edu	37	chr2	31754484	31754484	+	RNA	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tagccgatccattcaatgatCtcaccgaggaaattggctcc	8	12	2	1	rs121434253		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:31754484C>G	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							ATTCAATGATCTCACCGAGGA	0.463																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						74	73	73					2																	31754484		1952	4150	6102			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754484C>G																													2.37:g.31754484C>G						AL133247.2_ENST00000435713.1_RNA				P31213	S5A2_HUMAN			0	756	-	Acute lymphoblastic leukemia(172;0.155)								RNA	SNP	ENST00000435713.1	37																																																																																						0.463	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			5	29	0	0	0	1	0	5	29					G	31754484	C	G	31754484	1	3	496	0	1	0	0	0	0	0	0	0	15138	912	32	4		4	SRD5A2	2	31754484	RNA	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		31754484	211444889	6	39956											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	48	0	0	0	1	0	38	48					T	209113112	C	T	209113112	3	4	496	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	177358628	209113112	34086261	7	39957											
COL6A3	1293	broad.mit.edu	37	chr2	238280790	238280790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcacttcatccttgctGgaatgggcgttcagcaggaa	11	10	3	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:238280790G>A	ENST00000295550.4	-	9	4322	c.3870C>T	c.(3868-3870)tcC>tcT	p.S1290S	COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000353578.4_Silent_p.S1084S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000409809.1_Silent_p.S1084S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7. {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)		CATCCTTGCTGGAATGGGCGT	0.607																																						ENST00000295550.4																			0				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						c.(3868-3870)tcC>tcT		collagen, type VI, alpha 3							63	55	58					2																	238280790		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280790G>A	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.3870C>T	2.37:g.238280790G>A						COL6A3_ENST00000353578.4_Silent_p.S1084S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000409809.1_Silent_p.S1084S|COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S	p.S1290S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		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)	9	4322	-		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)	1290			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3870C>T	CCDS33412.1																																																																																				0.607	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		12	30	0	0	0	1	0	12	30					A	238280790	G	A	238280790	2	1	496	1	0	0	0	0	0	0	0	1	3701	1335	47	2		2	COL6A3	2	238280790	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	29167678	238280790	4918583	8	39958											
SLC6A1	6529	broad.mit.edu	37	chr3	11068038	11068038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccattgctgatgtggcGgcctcaggtcagtgcaacac	13	11	2	1	rs1139553		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:11068038G>A	ENST00000287766.4	+	10	1492	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SLC6A1_ENST00000536032.1_Silent_p.A179A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	357					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTGATGTGGCGGCCTCAGGTC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18787	0.0		0.0	False		,,,				2504	0.001					ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1069-1071)gcG>gcA		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						120	105	110					3																	11068038		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11068038G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1071G>A	3.37:g.11068038G>A						SLC6A1_ENST00000536032.1_Silent_p.A179A	p.A357A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	10	1492	+		Ovarian(110;0.0392)	357					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.1071G>A	CCDS2603.1																																																																																				0.577	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		23	23	0	0	0	1	0	23	23					A	11068038	G	A	11068038	2	1	496	1	0	0	0	0	0	0	0	1	14673	1103	39	1		1	SLC6A1	3	11068038	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		11068038	186954392	9	39959											
PARP3	10039	broad.mit.edu	37	chr3	51978147	51978147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgaaccagaccaacatcGagaacaacaacaacaagttc	5	14	0	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:51978147G>A	ENST00000417220.2	+	4	714	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PARP3_ENST00000431474.1_Missense_Mutation_p.E76K|PARP3_ENST00000398755.3_Missense_Mutation_p.E83K|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	76					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAACATCGAGAACAACAA	0.602																																						ENST00000417220.2																			0				ovary(1)	1						c.(226-228)Gag>Aag		poly (ADP-ribose) polymerase family, member 3							184	199	194					3																	51978147		2092	4223	6315	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978147G>A	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.226G>A	3.37:g.51978147G>A	ENSP00000395951:p.Glu76Lys					PARP3_ENST00000398755.3_Missense_Mutation_p.E83K|PARP3_ENST00000431474.1_Missense_Mutation_p.E76K	p.E76K			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	714	+			76					Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.226G>A	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825233	0.32237	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.87	3.99	0.46301	WGR domain (4);	0.286349	0.39083	N	0.001464	T	0.09335	0.0230	N	0.11927	0.2	0.18873	N	0.999981	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28138	-1.0053	10	0.27082	T	0.32	-14.0912	10.3054	0.43678	0.166:0.0:0.834:0.0	.	83;76	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	K	76;76;83;76	ENSP00000395951:E76K;ENSP00000401511:E76K;ENSP00000381740:E83K;ENSP00000417625:E76K	ENSP00000381740:E83K	E	+	1	0	PARP3	51953187	0.319000	0.24607	0.078000	0.20375	0.188000	0.23474	2.769000	0.47654	1.033000	0.39918	0.655000	0.94253	GAG		0.602	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		36	119	0	0	0	1	0	36	119					A	51978147	G	A	51978147	3	1	496	1	0	0	0	0	1	0	0	0	11462	1059	37	1	257	1	PARP3	3	51978147	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	40910109	51978147	146044283	10	39960											
NAALADL2	254827	broad.mit.edu	37	chr3	175042013	175042013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttcttctgtatatcgAtccttgtgatttgccaaaga	9	7	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:175042013A>G	ENST00000454872.1	+	5	1117	c.989A>G	c.(988-990)gAt>gGt	p.D330G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	330						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGTATATCGATCCTTGTGAT	0.418																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(988-990)gAt>gGt		N-acetylated alpha-linked acidic dipeptidase-like 2							234	229	231					3																	175042013		1906	4118	6024	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175042013A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.989A>G	3.37:g.175042013A>G	ENSP00000404705:p.Asp330Gly					NAALADL2_ENST00000473253.1_3'UTR	p.D330G	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1117	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	330					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.989A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324776	0.81580	.	.	ENSG00000177694	ENST00000454872	T	0.57595	0.39	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.76835	0.4043	M	0.89478	3.035	0.38241	D	0.941339	D	0.89917	1.0	D	0.83275	0.996	D	0.83545	0.0098	10	0.87932	D	0	-23.2991	14.7021	0.69162	1.0:0.0:0.0:0.0	.	330	Q58DX5	NADL2_HUMAN	G	330	ENSP00000404705:D330G	ENSP00000404705:D330G	D	+	2	0	NAALADL2	176524707	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.679000	0.74513	2.208000	0.71279	0.460000	0.39030	GAT		0.418	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		78	69	0	0	0	1	0	78	69					G	175042013	A	G	175042013	3	3	496	1	0	0	0	0	1	0	0	0	10130	333	12	3	1007	3	NAALADL2	3	175042013	Missense_Mutation	SNP	A	TCGA-VM-A8C8-01A-11D-A36O-08	123063866	175042013	22980417	11	39961											
EGF	1950	broad.mit.edu	37	chr4	110895896	110895896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgatttaaatgggaaaCgttccaaaataatcactaag	9	5	1	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:110895896C>T	ENST00000265171.5	+	12	2207	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	EGF_ENST00000503392.1_Missense_Mutation_p.R588C|EGF_ENST00000509793.1_Missense_Mutation_p.R546C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAATGGGAAACGTTCCAAAAT	0.358																																						ENST00000265171.5																			1	Substitution - Missense(1)	p.R588C(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1762-1764)Cgt>Tgt		epidermal growth factor	Sulindac(DB00605)						102	96	98					4																	110895896		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110895896C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1762C>T	4.37:g.110895896C>T	ENSP00000265171:p.Arg588Cys					EGF_ENST00000509793.1_Missense_Mutation_p.R546C|EGF_ENST00000503392.1_Missense_Mutation_p.R588C	p.R588C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	12	2207	+		Hepatocellular(203;0.0893)	588					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1762C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370970	0.24771	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	4.85	2.11	0.27256	Six-bladed beta-propeller, TolB-like (1);	0.543217	0.22515	N	0.059056	D	0.91466	0.7306	N	0.16368	0.405	0.09310	N	1	P;P;P	0.48911	0.917;0.572;0.917	B;B;P	0.51055	0.17;0.085;0.657	D	0.84774	0.0769	10	0.41790	T	0.15	.	7.6796	0.28505	0.0:0.6506:0.0:0.3494	.	588;546;588	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	C	546;588;588	ENSP00000424316:R546C;ENSP00000265171:R588C;ENSP00000421384:R588C	ENSP00000265171:R588C	R	+	1	0	EGF	111115345	0.001000	0.12720	0.080000	0.20451	0.432000	0.31715	0.125000	0.15749	0.177000	0.19895	0.655000	0.94253	CGT		0.358	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			4	60	0	0	0	1	0	4	60					T	110895896	C	T	110895896	3	4	496	1	0	0	0	0	1	0	0	0	4962	536	19	1	1808	1	EGF	4	110895896	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		110895896	80258380	12	39962											
STOX2	56977	broad.mit.edu	37	chr4	184930889	184930889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagagtggcccctgcgagacGaggacacgccagctacgatc	13	13	0	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:184930889G>A	ENST00000308497.4	+	3	2333	c.898G>A	c.(898-900)Gag>Aag	p.E300K	STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	300					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCTGCGAGACGAGGACACGCC	0.512																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(898-900)Gag>Aag		storkhead box 2							24	24	24					4																	184930889		1933	4145	6078	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930889G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.898G>A	4.37:g.184930889G>A	ENSP00000311257:p.Glu300Lys					STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2333	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	300					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.898G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931834	0.92389	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	D;D	0.89810	-1.66;-2.57	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.94266	0.7506	10	0.87932	D	0	-27.2097	20.6634	0.99662	0.0:0.0:1.0:0.0	.	300	Q9P2F5	STOX2_HUMAN	K	300	ENSP00000311257:E300K;ENSP00000390127:E300K	ENSP00000311257:E300K	E	+	1	0	STOX2	185167883	1.000000	0.71417	0.986000	0.45419	0.787000	0.44495	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GAG		0.512	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	25	0	0	0	1	0	4	25					A	184930889	G	A	184930889	3	1	496	1	0	0	0	0	1	0	0	0	15319	1059	37	1	908	1	STOX2	4	184930889	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	74034993	184930889	6223387	13	39963											
DMXL1	1657	broad.mit.edu	37	chr5	118503398	118503398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatataaatctattttacGtaaaaaagttttgggaatcg	7	4	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:118503398G>T	ENST00000311085.8	+	23	5317	c.5237G>T	c.(5236-5238)cGt>cTt	p.R1746L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1746										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)		TCTATTTTACGTAAAAAAGTT	0.348																																						ENST00000311085.8																			0				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						c.(5236-5238)cGt>cTt		Dmx-like 1							63	64	64					5																	118503398		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118503398G>T	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.5237G>T	5.37:g.118503398G>T	ENSP00000309690:p.Arg1746Leu					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	5317	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1746						Missense_Mutation	SNP	ENST00000311085.8	37	c.5237G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642329	0.14451	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.43294	0.95;0.95	5.86	1.58	0.23477	.	0.316159	0.39475	N	0.001348	T	0.24314	0.0589	N	0.20685	0.6	0.28412	N	0.918148	B;B	0.28055	0.199;0.149	B;B	0.31946	0.085;0.138	T	0.22906	-1.0203	10	0.16420	T	0.52	-1.4688	8.0923	0.30807	0.5445:0.0:0.4555:0.0	.	1746;1746	F5H269;Q9Y485	.;DMXL1_HUMAN	L	1746	ENSP00000309690:R1746L;ENSP00000439479:R1746L	ENSP00000309690:R1746L	R	+	2	0	DMXL1	118531297	1.000000	0.71417	0.898000	0.35279	0.593000	0.36681	4.033000	0.57282	0.123000	0.18342	-0.813000	0.03139	CGT		0.348	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		22	33	1	0	3.8784e-16	1	3.9996e-16	22	33					T	118503398	G	T	118503398	3	4	496	1	0	0	0	0	1	0	0	0	4594	1145	40	4	5327	4	DMXL1	5	118503398	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		118503398	62411862	14	39964											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccctctctcggccaccGtcacgctcaccgtggctgtg	10	19	3	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:140802769G>A	ENST00000398587.2	+	1	2008	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	659	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)	p.V659I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGCCACCGTCACGCTCAC	0.672																																						ENST00000398587.2																			1	Substitution - Missense(1)	p.V659I(1)	large_intestine(1)	breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1975-1977)Gtc>Atc									34	42	40					5																	140802769		2202	4297	6499	SO:0001583	missense	0							g.chr5:140802769G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1975G>A	5.37:g.140802769G>A	ENSP00000381589:p.Val659Ile					PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.V659I	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2008	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1975G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	15.20	2.763662	0.49574	.	.	ENSG00000253873	ENST00000398587	T	0.52983	0.64	5.33	3.53	0.40419	Cadherin (4);Cadherin-like (1);	0.474182	0.12845	U	0.434472	T	0.53094	0.1775	M	0.69823	2.125	0.80722	D	1	P;P	0.40875	0.731;0.538	P;B	0.45232	0.474;0.12	T	0.54543	-0.8278	10	0.54805	T	0.06	.	10.3526	0.43945	0.2135:0.0:0.7865:0.0	.	659;659	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	I	659	ENSP00000381589:V659I	ENSP00000381589:V659I	V	+	1	0	PCDHGA11	140782953	0.483000	0.25956	0.097000	0.21041	0.868000	0.49771	3.305000	0.51873	1.272000	0.44329	0.556000	0.70494	GTC		0.672	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		4	107	0	0	0	1	0	4	107					A	140802769	G	A	140802769	3	1	496	1	0	0	0	0	1	0	0	0	11552	1145	40	1	1977	1	PCDHGA11	5	140802769	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	22299371	140802769	40112491	15	39965											
SLC34A1	6569	broad.mit.edu	37	chr5	176824066	176824066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggagaagctgtccagCgctttccaggtgcgctggga	15	12	0	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:176824066C>T	ENST00000324417.5	+	12	1498	c.1407C>T	c.(1405-1407)agC>agT	p.S469S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	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)			AGCTGTCCAGCGCTTTCCAGG	0.627																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1405-1407)agC>agT		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							28	27	27					5																	176824066		2203	4300	6503	SO:0001819	synonymous_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824066C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"Solute carriers"	11019	protein-coding gene	gene with protein product	"sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II"	182309	"solute carrier family 34 (sodium phosphate), member 1"	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1407C>T	5.37:g.176824066C>T						SLC34A1_ENST00000513614.1_3'UTR	p.S469S	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1498	+	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)	469					B4DPE3	Silent	SNP	ENST00000324417.5	37	c.1407C>T	CCDS4418.1																																																																																				0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		4	17	0	0	0	1	0	4	17					T	176824066	C	T	176824066	2	4	496	1	0	0	0	0	0	0	0	1	14567	767	27	1		1	SLC34A1	5	176824066	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	36021297	176824066	4091194	16	39966											
PACSIN1	29993	broad.mit.edu	37	chr6	34495256	34495256	+	Frame_Shift_Del	DEL	A	A	-													ccaagcgttggcgccagctcAtcgagaaaggtgctccccca							TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:34495256delA	ENST00000538621.1	+	3	456	c.211delA	c.(211-213)atcfs	p.I71fs	PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs|PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	71	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGCCAGCTCATCGAGAAAGG	0.652											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(211-213)tcfs		protein kinase C and casein kinase substrate in neurons 1							54	46	49					6																	34495256		2198	4293	6491	SO:0001589	frameshift_variant	0				endocytosis		protein kinase activity	g.chr6:34495256delA	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"syndapin I"	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.211delA	6.37:g.34495256delA	ENSP00000439639:p.Ile71fs		OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs	p.I71fs	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			3	456	+			71			FCH.		Q9P2G8	Frame_Shift_Del	DEL	ENST00000538621.1	37	c.211delA	CCDS4793.1																																																																																				0.652	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			2	4						2	4	---	---	---	---	-	34495256	A	-	34495256	7	5	496	1	0	1	0	1	0	0	0	0	11374	217	8	0	217	0	PACSIN1	6	34495256	Frame_Shift_Del	DEL	A	TCGA-VM-A8C8-01A-11D-A36O-08		34495256	136619811	17	39967											
AKD1	221264	broad.mit.edu	37	chr6	109867299	109867299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttttgccagagccctggGggccgacaaggcatattctt	12	10	1	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:109867299G>A	ENST00000424296.2	-	26	3072	c.2996C>T	c.(2995-2997)cCc>cTc	p.P999L	AK9_ENST00000355283.1_Missense_Mutation_p.P78L|AK9_ENST00000341338.6_Missense_Mutation_p.P78L	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	999	Adenylate kinase 2.				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)										AGAGCCCTGGGGGCCGACAAG	0.448																																						ENST00000424296.2																			0											c.(2995-2997)cCc>cTc		adenylate kinase 9							72	86	81					6																	109867299		2197	4299	6496	SO:0001583	missense	221264							g.chr6:109867299G>A	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.2996C>T	6.37:g.109867299G>A	ENSP00000410186:p.Pro999Leu					AK9_ENST00000355283.1_Missense_Mutation_p.P78L|AK9_ENST00000341338.6_Missense_Mutation_p.P78L	p.P999L	NM_001145128.2	NP_001138600.2					26	3072	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.2996C>T	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685007	0.68157	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.49720	0.79;0.77;0.77	5.47	5.47	0.80525	ATPase, AAA+ type, core (1);	0.333993	0.31697	N	0.007206	T	0.31295	0.0792	L	0.52266	1.64	0.22954	N	0.99852	P;D	0.53151	0.903;0.958	P;P	0.46685	0.51;0.524	T	0.20638	-1.0269	9	.	.	.	.	9.7568	0.40508	0.0724:0.0:0.7882:0.1394	.	78;999	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	L	999;78;78	ENSP00000410186:P999L;ENSP00000347431:P78L;ENSP00000344637:P78L	.	P	-	2	0	AKD1	109973992	0.975000	0.34042	0.590000	0.28732	0.698000	0.40448	3.607000	0.54102	2.733000	0.93635	0.557000	0.71058	CCC		0.448	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		22	51	0	0	0	1	0	22	51					A	109867299	G	A	109867299	3	1	496	1	0	0	0	0	1	0	0	0	460	1232	43	2	2803	2	AKD1	6	109867299	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	75372043	109867299	61247768	18	39968											
PLG	5340	broad.mit.edu	37	chr6	161143583	161143583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accggcaccagaagaccccaGaaaactacccaaatgcgtat	7	14	0	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:161143583G>A	ENST00000308192.9	+	10	1303	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	414	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGACCCCAGAAAACTACCC	0.473																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1240-1242)Gaa>Aaa		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						121	119	120					6																	161143583		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161143583G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1240G>A	6.37:g.161143583G>A	ENSP00000308938:p.Glu414Lys						p.E414K	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	10	1303	+			414			Kringle 4.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1240G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.656992	0.14580	.	.	ENSG00000122194	ENST00000308192	T	0.67698	-0.28	5.18	2.12	0.27331	Kringle (4);Kringle-like fold (1);	0.389924	0.18047	U	0.153411	T	0.41050	0.1142	L	0.49640	1.575	0.09310	N	1	B	0.17465	0.022	B	0.27715	0.082	T	0.45071	-0.9286	10	0.49607	T	0.09	.	8.851	0.35199	0.0:0.26:0.4738:0.2661	.	414	P00747	PLMN_HUMAN	K	414	ENSP00000308938:E414K	ENSP00000308938:E414K	E	+	1	0	PLG	161063573	0.016000	0.18221	0.059000	0.19551	0.205000	0.24178	0.058000	0.14301	0.517000	0.28361	0.467000	0.42956	GAA		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	137	0	0	0	1	0	5	137					A	161143583	G	A	161143583	3	1	496	1	0	0	0	0	1	0	0	0	12086	943	33	2	1282	2	PLG	6	161143583	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	51276284	161143583	9971484	19	39969											
C7orf52	375607	broad.mit.edu	37	chr7	100816720	100816720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccggccacgcccttccCgcgctcccagggcgccacgc	11	23	0	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:100816720C>T	ENST00000300303.2	-	3	632	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	NAT16_ENST00000455377.1_Missense_Mutation_p.G132R	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	132	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										ACGCCCTTCCCGCGCTCCCAG	0.711																																						ENST00000300303.2																			0											c.(394-396)Ggg>Agg		N-acetyltransferase 16 (GCN5-related, putative)							22	24	23					7																	100816720		2197	4297	6494	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100816720C>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.394G>A	7.37:g.100816720C>T	ENSP00000300303:p.Gly132Arg					NAT16_ENST00000455377.1_Missense_Mutation_p.G132R	p.G132R	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			3	632	-			132			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.394G>A	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651041	0.67472	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	T;T;T	0.55234	0.53;0.53;0.53	3.11	-1.48	0.08745	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.076596	0.49916	D	0.000123	T	0.53384	0.1793	M	0.79123	2.44	0.80722	D	1	D	0.61080	0.989	P	0.51135	0.66	T	0.53620	-0.8413	10	0.87932	D	0	.	3.4726	0.07573	0.3394:0.4318:0.0:0.2287	.	132	Q8N8M0	CG052_HUMAN	R	132	ENSP00000300303:G132R;ENSP00000395125:G132R;ENSP00000391769:G132R	ENSP00000300303:G132R	G	-	1	0	C7orf52	100603440	0.874000	0.30092	0.114000	0.21550	0.971000	0.66376	0.797000	0.26999	-0.181000	0.10619	0.462000	0.41574	GGG		0.711	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		10	18	0	0	0	1	0	10	18					T	100816720	C	T	100816720	3	4	496	1	0	0	0	0	1	0	0	0	2401	652	23	1	723	1	C7orf52	7	100816720	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		100816720	58321943	20	39970											
CLEC5A	23601	broad.mit.edu	37	chr7	141635639	141635639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctggcgtgttgacaattGccaatgtggatccttttcct	9	10	1	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:141635639G>A	ENST00000546910.1	-	5	516	c.320C>T	c.(319-321)gCa>gTa	p.A107V	CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTGACAATTGCCAATGTGGA	0.443																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.(319-321)gCa>gTa		C-type lectin domain family 5, member A							168	142	151					7																	141635639		2203	4300	6503	SO:0001583	missense	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141635639G>A		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.320C>T	7.37:g.141635639G>A	ENSP00000449999:p.Ala107Val					CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron	p.A107V	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN			5	516	-	Melanoma(164;0.0171)		107			C-type lectin.		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	c.320C>T	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564600	0.45694	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.18174	2.23;2.23;2.23	4.75	4.75	0.60458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000046	T	0.26629	0.0651	L	0.41079	1.255	0.41749	D	0.989655	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	0.02244	-1.1189	10	0.02654	T	1	-23.0542	13.4324	0.61064	0.0:0.0:1.0:0.0	.	84;84;107;107	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	V	107;84;84	ENSP00000449999:A107V;ENSP00000446890:A84V;ENSP00000414897:A84V	ENSP00000265306:A107V	A	-	2	0	CLEC5A	141282108	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	3.965000	0.56788	2.618000	0.88619	0.549000	0.68633	GCA		0.443	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		13	67	0	0	0	1	0	13	67					A	141635639	G	A	141635639	3	1	496	1	0	0	0	0	1	0	0	0	3519	1319	46	2	258	2	CLEC5A	7	141635639	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	40818919	141635639	17503024	21	39971											
PREX2	80243	broad.mit.edu	37	chr8	68956773	68956773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcggtacctttttcgTggccggatcaacacggaggt	13	10	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:68956773T>C	ENST00000288368.4	+	8	1168	c.891T>C	c.(889-891)cgT>cgC	p.R297R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(889-891)cgT>cgC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							156	146	150					8																	68956773		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68956773T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.891T>C	8.37:g.68956773T>C						PREX2_ENST00000529398.1_3'UTR	p.R297R	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			8	1168	+			297			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.891T>C	CCDS6201.1																																																																																				0.393	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		14	104	0	0	0	1	0	14	104					C	68956773	T	C	68956773	2	2	496	1	0	0	0	0	0	0	0	1	12477	1683	59	3		3	PREX2	8	68956773	Silent	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		68956773	77407249	22	39972											
RHPN1	114822	broad.mit.edu	37	chr8	144462859	144462859	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtggacctgcttcgggctgtGatctcccagacgctgcagcg	14	13	1	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:144462859G>C	ENST00000289013.6	+	11	1418	c.1317G>C	c.(1315-1317)gtG>gtC	p.V439V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	464	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TTCGGGCTGTGATCTCCCAGA	0.677																																						ENST00000289013.6																			0				endometrium(1)|large_intestine(1)|lung(7)	9						c.(1315-1317)gtG>gtC		rhophilin, Rho GTPase binding protein 1							20	25	23					8																	144462859		2121	4231	6352	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144462859G>C	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1317G>C	8.37:g.144462859G>C							p.V439V	NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		11	1418	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		464			BRO1.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.1317G>C	CCDS47927.1																																																																																				0.677	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			3	6	0	0	0	1	0	3	6					C	144462859	G	C	144462859	2	2	496	1	0	0	0	0	0	0	0	1	13350	1277	45	4		4	RHPN1	8	144462859	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	75506086	144462859	1901163	23	39973											
TLN1	7094	broad.mit.edu	37	chr9	35706484	35706484	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcagcccgggcagcaTtggccagcggctcaatgaga	14	12	2	1	rs202143177		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:35706484T>C	ENST00000314888.9	-	39	5506	c.5153A>G	c.(5152-5154)aAt>aGt	p.N1718S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1718	Interaction with SYNM.			N -> H (in Ref. 1; AAD13152 and 2; AAF23322). {ECO:0000305}.	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)			CCGGGCAGCATTGGCCAGCGG	0.592																																						ENST00000314888.9																			0				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						c.(5152-5154)aAt>aGt		talin 1							44	44	44					9																	35706484		2203	4299	6502	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706484T>C	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.5153A>G	9.37:g.35706484T>C	ENSP00000316029:p.Asn1718Ser					TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	p.N1718S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		39	5506	-	all_epithelial(49;0.167)		1718	N -> H (in Ref. 1; AAD13152 and 2; AAF23322).		Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5153A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	3.326	-0.137718	0.06711	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13089	2.62;2.62	5.38	2.4	0.29515	.	0.263374	0.44285	N	0.000478	T	0.04318	0.0119	N	0.04090	-0.28	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	10	0.06236	T	0.91	-0.3225	5.73	0.18034	0.0:0.5234:0.242:0.2346	.	1718	Q9Y490	TLN1_HUMAN	S	1718;1702	ENSP00000316029:N1718S;ENSP00000442981:N1702S	ENSP00000316029:N1718S	N	-	2	0	TLN1	35696484	0.031000	0.19500	0.995000	0.50966	0.982000	0.71751	0.659000	0.24994	0.633000	0.30452	-0.345000	0.07892	AAT		0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		7	26	0	0	0	1	0	7	26					C	35706484	T	C	35706484	3	2	496	1	0	0	0	0	1	0	0	0	15944	1493	52	3	2548	3	TLN1	9	35706484	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		35706484	105506947	24	39974											
WNK2	65268	broad.mit.edu	37	chr9	96055256	96055256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtggctggcgacttcGtgaagaaggccaccgccttc	14	13	0	2	rs572566317		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96055256G>A	ENST00000297954.4	+	23	5620	c.5620G>A	c.(5620-5622)Gtg>Atg	p.V1874M	WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M|WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000356055.3_Missense_Mutation_p.V201M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1874					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						TGGCGACTTCGTGAAGAAGGC	0.706																																						ENST00000297954.4																			0				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						c.(5620-5622)Gtg>Atg		WNK lysine deficient protein kinase 2							13	16	15					9																	96055256		2199	4289	6488	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96055256G>A	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.5620G>A	9.37:g.96055256G>A	ENSP00000297954:p.Val1874Met					WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000356055.3_Missense_Mutation_p.V201M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M	p.V1874M			Q9Y3S1	WNK2_HUMAN			23	5620	+			1874					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.5620G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.812|9.812	1.183476|1.183476	0.21870|0.21870	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	.|T;T;T;T;D	.|0.82803	.|-0.25;-0.23;0.33;0.33;-1.65	5.21|5.21	0.669|0.669	0.17918|0.17918	.|.	.|0.470957	.|0.23413	.|N	.|0.048458	T|T	0.66499|0.66499	0.2795|0.2795	N|N	0.16066|0.16066	0.365|0.365	0.25105|0.25105	N|N	0.990758|0.990758	.|P;D;B;B;P	.|0.54047	.|0.882;0.964;0.147;0.229;0.954	.|B;B;B;B;B	.|0.43889	.|0.346;0.435;0.009;0.031;0.336	T|T	0.61530|0.61530	-0.7044|-0.7044	5|10	.|0.44086	.|T	.|0.13	.|.	6.252|6.252	0.20852|0.20852	0.363:0.1356:0.5014:0.0|0.363:0.1356:0.5014:0.0	.|.	.|1837;1832;1440;1837;1874	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	H|M	1440|1874;1837;1486;1449;201	.|ENSP00000297954:V1874M;ENSP00000378860:V1837M;ENSP00000297876:V1486M;ENSP00000411181:V1449M;ENSP00000348347:V201M	.|ENSP00000297954:V1874M	R|V	+|+	2|1	0|0	WNK2|WNK2	95095077|95095077	0.961000|0.961000	0.32948|0.32948	0.214000|0.214000	0.23707|0.23707	0.065000|0.065000	0.16274|0.16274	2.098000|2.098000	0.41757|0.41757	0.209000|0.209000	0.20645|0.20645	-0.314000|-0.314000	0.08810|0.08810	CGT|GTG		0.706	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	22	0	0	0	1	0	3	22					A	96055256	G	A	96055256	3	1	496	1	0	0	0	0	1	0	0	0	17375	1145	40	1	5595	1	WNK2	9	96055256	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	60348772	96055256	45158175	25	39975											
PTPDC1	138639	broad.mit.edu	37	chr9	96859724	96859724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagctcctctgtgtaagGgaatttactcagtttctaac	9	9	3	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96859724G>A	ENST00000375360.3	+	7	1054	c.714G>A	c.(712-714)agG>agA	p.R238R	PTPDC1_ENST00000288976.3_Silent_p.R290R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	238					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						TCTGTGTAAGGGAATTTACTC	0.443																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(712-714)agG>agA		protein tyrosine phosphatase domain containing 1							99	97	98					9																	96859724		2203	4300	6503	SO:0001819	synonymous_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859724G>A	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.714G>A	9.37:g.96859724G>A						PTPDC1_ENST00000288976.3_Silent_p.R290R	p.R238R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1054	+			238					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.714G>A	CCDS6707.1																																																																																				0.443	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		30	105	0	0	0	1	0	30	105					A	96859724	G	A	96859724	2	1	496	1	0	0	0	0	0	0	0	1	12773	1223	43	2		2	PTPDC1	9	96859724	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	804468	96859724	44353707	26	39976											
UCK1	83549	broad.mit.edu	37	chr9	134404363	134404363	+	Frame_Shift_Del	DEL	C	C	-													ctcctcgaaggccggcttcaCgaaggtggtgtactgcgtca							TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:134404363delC	ENST00000372215.4	-	5	664	c.571delG	c.(571-573)gtgfs	p.V191fs	UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs|UCK1_ENST00000372208.3_Intron	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	191					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGGCTTCACGAAGGTGGTG	0.617																																					Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(571-573)tgfs		uridine-cytidine kinase 1							91	68	76					9																	134404363		2203	4300	6503	SO:0001589	frameshift_variant	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134404363delC	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.571delG	9.37:g.134404363delC	ENSP00000361289:p.Val191fs					UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs	p.V191fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	5	664	-			191					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Frame_Shift_Del	DEL	ENST00000372215.4	37	c.571delG	CCDS6944.1																																																																																				0.617	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		12	30						12	30	---	---	---	---	-	134404363	C	-	134404363	7	5	496	1	0	1	0	1	0	0	0	0	16920	536	19	0	274	0	UCK1	9	134404363	Frame_Shift_Del	DEL	C	TCGA-VM-A8C8-01A-11D-A36O-08	37544639	134404363	6809068	27	39977											
MUC5B	727897	broad.mit.edu	37	chr11	1267980	1267980	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccacaaccagggccacCggctctgtggccaccccctc	8	21	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:1267980C>A	ENST00000529681.1	+	31	9928	c.9870C>A	c.(9868-9870)acC>acA	p.T3290T	MUC5B_ENST00000447027.1_Silent_p.T3293T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3290	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)		CCAGGGCCACCGGCTCTGTGG	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9877-9879)acC>acA		mucin 5B, oligomeric mucus/gel-forming							66	101	90					11																	1267980		1958	4144	6102	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267980C>A	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.9870C>A	11.37:g.1267980C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3290T	p.T3293T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9937	+		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)	3290	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9879C>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	83	1	0	0.150653	1	0.150653	4	83					A	1267980	C	A	1267980	2	1	496	1	0	0	0	0	0	0	0	1	9979	639	23	4		4	MUC5B	11	1267980	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		1267980	133738536	28	39978											
USP47	55031	broad.mit.edu	37	chr11	11959846	11959846	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttgatctaaaggcagaatCtgtagctgctcctataactg	9	8	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:11959846C>T	ENST00000399455.2	+	19	2300	c.2180C>T	c.(2179-2181)tCt>tTt	p.S727F	USP47_ENST00000339865.5_Missense_Mutation_p.S639F|USP47_ENST00000527733.1_Missense_Mutation_p.S707F|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	727					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)		AAGGCAGAATCTGTAGCTGCT	0.333																																						ENST00000339865.5																			0				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						c.(1915-1917)tCt>tTt		ubiquitin specific peptidase 47							163	155	158					11																	11959846		1866	4092	5958	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11959846C>T	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.2180C>T	11.37:g.11959846C>T	ENSP00000382382:p.Ser727Phe					USP47_ENST00000399455.2_Missense_Mutation_p.S727F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.S707F	p.S639F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	17	2679	+			727					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.1916C>T		.	.	.	.	.	.	.	.	.	.	C	18.43	3.623386	0.66901	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04603	3.59;3.59;3.59	5.83	5.83	0.93111	.	0.146064	0.64402	D	0.000007	T	0.07503	0.0189	L	0.36672	1.1	0.80722	D	1	B;P;P	0.41102	0.151;0.62;0.738	B;B;B	0.40101	0.059;0.17;0.319	T	0.12319	-1.0552	10	0.59425	D	0.04	.	19.7169	0.96124	0.0:1.0:0.0:0.0	.	727;707;639	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	F	639;707;727	ENSP00000339957:S639F;ENSP00000433146:S707F;ENSP00000382382:S727F	ENSP00000339957:S639F	S	+	2	0	USP47	11916422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.745000	0.68672	2.763000	0.94921	0.561000	0.74099	TCT		0.333	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		19	36	0	0	0	1	0	19	36					T	11959846	C	T	11959846	3	4	496	1	0	0	0	0	1	0	0	0	17075	913	32	2	1982	2	USP47	11	11959846	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	10691866	11959846	123046670	29	39979											
EHF	26298	broad.mit.edu	37	chr11	34680178	34680178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagaccgatctgagggcGtcttcaggttcttgaaatca	13	8	5	3	rs199838917		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:34680178G>A	ENST00000533754.1	+	8	923	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	EHF_ENST00000257831.3_Missense_Mutation_p.V236I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000450654.2_Missense_Mutation_p.V213I|EHF_ENST00000531794.1_Missense_Mutation_p.V258I					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCTGAGGGCGTCTTCAGGTT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		18815	0.001		0.0	False		,,,				2504	0.0					ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(706-708)Gtc>Atc		ets homologous factor							89	93	92					11																	34680178		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680178G>A	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.706G>A	11.37:g.34680178G>A	ENSP00000435837:p.Val236Ile					EHF_ENST00000450654.2_Missense_Mutation_p.V213I|EHF_ENST00000531794.1_Missense_Mutation_p.V258I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000533754.1_Missense_Mutation_p.V236I	p.V236I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	827	+		all_hematologic(20;0.117)	236						Missense_Mutation	SNP	ENST00000533754.1	37	c.706G>A	CCDS7894.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.858	-0.463381	0.04476	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.7	0.644	0.17776	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.148016	0.64402	N	0.000011	T	0.06142	0.0159	N	0.13371	0.34	0.80722	D	1	B;B;B	0.18741	0.03;0.0;0.001	B;B;B	0.16289	0.015;0.001;0.004	T	0.39333	-0.9619	10	0.06099	T	0.92	.	10.8075	0.46527	0.6508:0.0:0.3492:0.0	.	258;213;236	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	I	236;213;236;236;258	ENSP00000257831:V236I;ENSP00000399733:V213I;ENSP00000433508:V236I;ENSP00000435837:V236I;ENSP00000435835:V258I	ENSP00000257831:V236I	V	+	1	0	EHF	34636754	0.988000	0.35896	0.985000	0.45067	0.786000	0.44442	2.240000	0.43088	-0.108000	0.12066	-1.421000	0.01109	GTC		0.488	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		17	80	0	0	0	1	0	17	80					A	34680178	G	A	34680178	3	1	496	1	0	0	0	0	1	0	0	0	4981	1145	40	1	732	1	EHF	11	34680178	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	22720332	34680178	100326338	30	39980											
DAK	26007	broad.mit.edu	37	chr11	61110297	61110297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgggcatcatagccgaCgctaccgtccgctccctggg	12	15	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:61110297C>T	ENST00000394900.3	+	10	1075	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	282	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCATAGCCGACGCTACCGTCC	0.587																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(844-846)gaC>gaT		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							64	62	63					11																	61110297		2203	4299	6502	SO:0001819	synonymous_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110297C>T		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.846C>T	11.37:g.61110297C>T							p.D282D	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			10	1075	+			282			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	c.846C>T	CCDS8003.1																																																																																				0.587	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		13	39	0	0	0	1	0	13	39					T	61110297	C	T	61110297	2	4	496	1	0	0	0	0	0	0	0	1	4228	535	19	1		1	DAK	11	61110297	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	26430119	61110297	73896219	31	39981											
WDR74	54663	broad.mit.edu	37	chr11	62601766	62601766	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accttgccgaaggtcaatttCtgccagctgcccatgagtgt	10	12	2	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:62601766C>T	ENST00000525239.1	-	9	1294	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000541317.1_5'Flank|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K|RP11-727F15.9_ENST00000535867.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	253					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AGGTCAATTTCTGCCAGCTGC	0.567																																						ENST00000525239.1																			0				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						c.(757-759)Gaa>Aaa		WD repeat domain 74							141	141	141					11																	62601766		1972	4167	6139	SO:0001583	missense	54663					nucleolus		g.chr11:62601766C>T		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.757G>A	11.37:g.62601766C>T	ENSP00000432119:p.Glu253Lys					WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K|WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K	p.E253K			Q6RFH5	WDR74_HUMAN			9	1294	-			253					A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	c.757G>A	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482384	0.26598	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.12	3.18	0.36537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.600823	0.17685	N	0.165471	T	0.14787	0.0357	N	0.25647	0.755	0.26644	N	0.972226	B;P;P	0.36282	0.404;0.546;0.488	B;B;B	0.29176	0.063;0.063;0.099	T	0.15150	-1.0447	10	0.06236	T	0.91	-11.7591	8.8925	0.35444	0.2224:0.7776:0.0:0.0	.	196;253;253	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	K	253;253;253;253;196	ENSP00000308931:E253K;ENSP00000435726:E253K;ENSP00000432119:E253K;ENSP00000278856:E253K;ENSP00000432113:E196K	ENSP00000278856:E253K	E	-	1	0	WDR74	62358342	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	3.370000	0.52372	0.888000	0.36160	0.561000	0.74099	GAA		0.567	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		24	131	0	0	0	1	0	24	131					T	62601766	C	T	62601766	3	4	496	1	0	0	0	0	1	0	0	0	17321	922	32	2	416	2	WDR74	11	62601766	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	1491469	62601766	72404750	32	39982											
PTPN11	5781	broad.mit.edu	37	chr12	112924324	112924324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataccactttcggacctggCcggaccacggcgtgcccagc	11	16	0	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr12:112924324C>T	ENST00000351677.2	+	11	1468	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	428	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCGGACCTGGCCGGACCACGG	0.562			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1270-1272)Ccg>Tcg		protein tyrosine phosphatase, non-receptor type 11							50	50	50					12																	112924324		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112924324C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1270C>T	12.37:g.112924324C>T	ENSP00000340944:p.Pro424Ser					PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			11	1468	+			428			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1270C>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449052	0.96205	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99586	-6.23;-6.23	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.94847	3.59	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.6833	0.91554	0.0:1.0:0.0:0.0	.	424;424	Q06124-2;Q06124-3	.;.	S	424	ENSP00000376376:P424S;ENSP00000340944:P424S	ENSP00000340944:P424S	P	+	1	0	PTPN11	111408707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.406000	0.81754	0.563000	0.77884	CCG		0.562	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			3	36	0	0	0	1	0	3	36					T	112924324	C	T	112924324	3	4	496	1	0	0	0	0	1	0	0	0	12780	739	26	2	1312	2	PTPN11	12	112924324	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		112924324	20927571	33	39983											
MYCBP2	23077	broad.mit.edu	37	chr13	77844139	77844139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacctgagcatacccTaaccaagactttttttcttt	3	11	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr13:77844139T>G	ENST00000544440.2	-	7	1151	c.1134A>C	c.(1132-1134)ttA>ttC	p.L378F	MYCBP2_ENST00000407578.2_Missense_Mutation_p.L416F|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F					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)		GAGCATACCCTAACCAAGACT	0.299																																						ENST00000407578.2																			0				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						c.(1246-1248)ttA>ttC		MYC binding protein 2, E3 ubiquitin protein ligase							111	125	120					13																	77844139		2203	4296	6499	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844139T>G	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.1134A>C	13.37:g.77844139T>G	ENSP00000444596:p.Leu378Phe					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L378F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F	p.L416F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1514	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	378						Missense_Mutation	SNP	ENST00000544440.2	37	c.1248A>C		.	.	.	.	.	.	.	.	.	.	T	21.1	4.105562	0.77096	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.54675	0.58;0.56;0.58	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000016	T	0.53142	0.1778	M	0.64404	1.975	0.48830	D	0.999712	P	0.48407	0.91	B	0.44315	0.446	T	0.60016	-0.7345	10	0.87932	D	0	.	10.8927	0.47004	0.0:0.0732:0.0:0.9268	.	378	O75592	MYCB2_HUMAN	F	378;416;378	ENSP00000349892:L378F;ENSP00000384288:L416F;ENSP00000444596:L378F	ENSP00000349892:L378F	L	-	3	2	MYCBP2	76742140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.839000	0.55835	2.111000	0.64477	0.460000	0.39030	TTA		0.299	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	70	0	0	0	1	0	9	70					G	77844139	T	G	77844139	3	3	496	1	0	0	0	0	1	0	0	0	10018	1519	53	5	13096	5	MYCBP2	13	77844139	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		77844139	37325739	34	39984											
INO80	54617	broad.mit.edu	37	chr15	41308307	41308307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtaggtctatcatcctGgtcatctgggagtagataag	11	8	4	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:41308307G>A	ENST00000361937.3	-	27	3805	c.3381C>T	c.(3379-3381)acC>acT	p.T1127T	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Silent_p.T1127T|RP11-540O11.7_ENST00000558101.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1127	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTATCATCCTGGTCATCTGGG	0.473																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3379-3381)acC>acT		INO80 complex subunit							95	80	85					15																	41308307		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41308307G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3381C>T	15.37:g.41308307G>A						INO80_ENST00000401393.3_Silent_p.T1127T	p.T1127T			Q9ULG1	INO80_HUMAN			27	3805	-			1127			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3381C>T	CCDS10071.1																																																																																				0.473	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		21	36	0	0	0	1	0	21	36					A	41308307	G	A	41308307	2	1	496	1	0	0	0	0	0	0	0	1	7746	1335	47	2		2	INO80	15	41308307	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		41308307	61223085	35	39985											
SPPL2A	84888	broad.mit.edu	37	chr15	51028304	51028304	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtattcatacctgtctTcatttcgaaacacagcccaa	5	11	3	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:51028304T>A	ENST00000261854.5	-	8	1200	c.926A>T	c.(925-927)gAa>gTa	p.E309V		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	309					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATACCTGTCTTCATTTCGAAA	0.353																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(925-927)gAa>gTa		signal peptide peptidase like 2A							128	110	116					15																	51028304		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51028304T>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"intramembrane protease 3", "presenilin-like protein 2"	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.926A>T	15.37:g.51028304T>A	ENSP00000261854:p.Glu309Val						p.E309V	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	8	1200	-			309					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.926A>T	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078593	0.76528	.	.	ENSG00000138600	ENST00000261854	T	0.18810	2.19	5.07	5.07	0.68467	.	0.050712	0.85682	D	0.000000	T	0.40595	0.1123	L	0.60957	1.885	0.58432	D	0.999992	D	0.71674	0.998	D	0.68943	0.961	T	0.09907	-1.0653	10	0.30854	T	0.27	-4.5825	15.1256	0.72481	0.0:0.0:0.0:1.0	.	309	Q8TCT8	PSL2_HUMAN	V	309	ENSP00000261854:E309V	ENSP00000261854:E309V	E	-	2	0	AC012100.1	48815596	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.456000	0.73501	2.037000	0.60232	0.460000	0.39030	GAA		0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		15	60	0	0	0	1	0	15	60					A	51028304	T	A	51028304	3	1	496	1	0	0	0	0	1	0	0	0	15087	1783	62	5	668	5	SPPL2A	15	51028304	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	9719997	51028304	51503088	36	39986											
PPL	5493	broad.mit.edu	37	chr16	4945354	4945354	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaccacctgctggcctcGcttctgcagcccctgcacca	10	19	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:4945354G>A	ENST00000345988.2	-	11	1239	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	384					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTGGCCTCGCTTCTGCAGC	0.647																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1150-1152)Cga>Tga		periplakin							57	54	55					16																	4945354		2197	4300	6497	SO:0001587	stop_gained	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945354G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1150C>T	16.37:g.4945354G>A	ENSP00000340510:p.Arg384*					PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	p.R384*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			11	1239	-			384					O60314|O60454|Q14C98	Nonsense_Mutation	SNP	ENST00000345988.2	37	c.1150C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743586	0.89663	.	.	ENSG00000118898	ENST00000345988	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1365	0.86742	0.0:0.0:1.0:0.0	.	.	.	.	X	384	.	ENSP00000340510:R384X	R	-	1	2	PPL	4885355	1.000000	0.71417	0.992000	0.48379	0.061000	0.15899	6.255000	0.72466	2.373000	0.80994	0.561000	0.74099	CGA		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		9	41	0	0	0	1	0	9	41					A	4945354	G	A	4945354	4	1	496	1	0	0	0	0	0	1	0	0	12334	1095	38	1	4168	1	PPL	16	4945354	Nonsense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		4945354	85409399	37	39987											
CHD9	80205	broad.mit.edu	37	chr16	53190447	53190447	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccaacaaggacattcacactCtatgcatcaaaataaaagct	4	11	3	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:53190447C>G	ENST00000398510.3	+	1	533	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CHD9_ENST00000566029.1_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000564845.1_Missense_Mutation_p.S149C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	149					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)				CATTCACACTCTATGCATCAA	0.418																																						ENST00000566029.1																			0				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						c.(445-447)tCt>tGt		chromodomain helicase DNA binding protein 9							103	100	100					16																	53190447		1916	4144	6060	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190447C>G	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.446C>G	16.37:g.53190447C>G	ENSP00000381522:p.Ser149Cys					CHD9_ENST00000564845.1_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000398510.3_Missense_Mutation_p.S149C	p.S149C			Q3L8U1	CHD9_HUMAN			2	655	+		all_cancers(37;0.0212)	149					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.446C>G		.	.	.	.	.	.	.	.	.	.	C	17.60	3.429482	0.62844	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86694	-2.08;-2.16	5.72	5.72	0.89469	.	0.322330	0.26948	N	0.021690	D	0.90655	0.7069	L	0.44542	1.39	0.42328	D	0.992283	P;B;D;P	0.67145	0.545;0.41;0.996;0.545	B;B;P;B	0.61592	0.421;0.241;0.891;0.421	D	0.90752	0.4658	10	0.56958	D	0.05	-10.112	19.8868	0.96915	0.0:1.0:0.0:0.0	.	149;149;149;149	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	C	149	ENSP00000396345:S149C;ENSP00000381522:S149C	ENSP00000381522:S149C	S	+	2	0	CHD9	51747948	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.919000	0.56439	2.689000	0.91719	0.650000	0.86243	TCT		0.418	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		20	78	0	0	0	1	0	20	78					G	53190447	C	G	53190447	3	3	496	1	0	0	0	0	1	0	0	0	3332	913	32	4	448	4	CHD9	16	53190447	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	48245093	53190447	37164306	38	39988											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	9	0	0	0	1	0	29	9					C	7578190	T	C	7578190	3	2	496	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		7578190	73617020	39	39989											
COX10	1352	broad.mit.edu	37	chr17	13980254	13980254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actagagccagactcagtaaTtgaagactcaatagatgtag	9	7	2	5	rs201424119		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:13980254T>C	ENST00000261643.3	+	3	457	c.380T>C	c.(379-381)aTt>aCt	p.I127T	COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	127					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)		GACTCAGTAATTGAAGACTCA	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.0					ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(379-381)aTt>aCt		cytochrome c oxidase assembly homolog 10 (yeast)							85	85	85					17																	13980254		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13980254T>C	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.380T>C	17.37:g.13980254T>C	ENSP00000261643:p.Ile127Thr					COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron	p.I127T	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	3	457	+		all_lung(20;0.06)|Lung SC(565;0.168)	127					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.380T>C	CCDS11166.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	6.194	0.403995	0.11754	.	.	ENSG00000006695	ENST00000261643	T	0.63417	-0.04	4.82	-0.517	0.11947	.	1.310690	0.05007	N	0.470174	T	0.41003	0.1140	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11179	-1.0598	10	0.08837	T	0.75	-18.6931	2.0193	0.03505	0.1406:0.3694:0.1451:0.3449	.	127	Q12887	COX10_HUMAN	T	127	ENSP00000261643:I127T	ENSP00000261643:I127T	I	+	2	0	COX10	13920979	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.413000	0.07123	-0.207000	0.10187	0.533000	0.62120	ATT		0.423	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		15	64	0	0	0	1	0	15	64					C	13980254	T	C	13980254	3	2	496	1	0	0	0	0	1	0	0	0	3762	1493	52	3	390	3	COX10	17	13980254	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	6402064	13980254	67214956	40	39990											
UBE2Z	65264	broad.mit.edu	37	chr17	47000214	47000214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgttttccagaggggTgatggagaagtcctttctgg	14	7	1	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:47000214T>C	ENST00000360943.5	+	6	944	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	270					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										TCCAGAGGGGTGATGGAGAAG	0.473																																						ENST00000360943.5																			0											c.(808-810)gTg>gCg		ubiquitin-conjugating enzyme E2Z							95	82	86					17																	47000214		2203	4300	6503	SO:0001583	missense	65264				apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	g.chr17:47000214T>C	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"Ubiquitin-conjugating enzymes E2"	25847	protein-coding gene	gene with protein product	"UBA6-specific enzyme E2"	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.809T>C	17.37:g.47000214T>C	ENSP00000354201:p.Val270Ala						p.V270A	NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN			6	944	+			270					A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	c.809T>C	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093476	0.76756	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.77620	-1.11	5.05	5.05	0.67936	Ubiquitin-conjugating enzyme/RWD-like (1);	0.067100	0.64402	D	0.000012	D	0.84795	0.5551	M	0.74258	2.255	0.58432	D	0.999999	D	0.55172	0.97	P	0.57960	0.83	D	0.86732	0.1949	10	0.72032	D	0.01	-12.4441	13.1862	0.59682	0.0:0.0:0.0:1.0	.	270	Q9H832	UBE2Z_HUMAN	A	270;203	ENSP00000354201:V270A	ENSP00000354201:V270A	V	+	2	0	UBE2Z	44355213	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.525000	0.81892	2.127000	0.65507	0.443000	0.29094	GTG		0.473	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318724.2	NM_023079		10	32	0	0	0	1	0	10	32					C	47000214	T	C	47000214	3	2	496	1	0	0	0	0	1	0	0	0	16875	1696	59	3	831	3	UBE2Z	17	47000214	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	33019960	47000214	34194996	41	39991											
H3F3B	3021	broad.mit.edu	37	chr17	73774698	73774698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctctctccccgtatcCggcgagccaactggatgtct	9	15	3	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:73774698C>T	ENST00000254810.4	-	4	521	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	130					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)			TCCCCGTATCCGGCGAGCCAA	0.443																																						ENST00000254810.4																			0				large_intestine(1)|lung(4)|ovary(2)|skin(1)	8						c.(388-390)cGg>cAg		H3 histone, family 3B (H3.3B)							122	120	121					17																	73774698		2203	4298	6501	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73774698C>T	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.389G>A	17.37:g.73774698C>T	ENSP00000254810:p.Arg130Gln					H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000593254.1_5'UTR	p.R130Q	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	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)		4	521	-	all_cancers(13;1.5e-07)		130					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.389G>A	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796841	0.50208	.	.	ENSG00000132475	ENST00000254810	T	0.74842	-0.88	5.31	5.31	0.75309	.	0.000000	0.64402	U	0.000018	D	0.90487	0.7020	H	0.94423	3.535	0.50467	D	0.999873	.	.	.	.	.	.	D	0.92626	0.6112	8	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	Q	130	ENSP00000254810:R130Q	ENSP00000254810:R130Q	R	-	2	0	H3F3B	71286293	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.489000	0.81451	2.767000	0.95098	0.561000	0.74099	CGG		0.443	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1	NM_005324		4	103	0	0	0	1	0	4	103					T	73774698	C	T	73774698	3	4	496	1	0	0	0	0	1	0	0	0	6934	652	23	1	25	1	H3F3B	17	73774698	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	26774484	73774698	7420512	42	39992											
CLEC4G	339390	broad.mit.edu	37	chr19	7794297	7794297	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagccgtccttctcgctGtcacacggtgcgtcgttcca	9	16	2	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:7794297G>A	ENST00000328853.5	-	9	905	c.837C>T	c.(835-837)gaC>gaT	p.D279D	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	279	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						CCTTCTCGCTGTCACACGGTG	0.627																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(835-837)gaC>gaT		C-type lectin domain family 4, member G							70	57	61					19																	7794297		2203	4300	6503	SO:0001819	synonymous_variant	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794297G>A	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.837C>T	19.37:g.7794297G>A							p.D279D	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			9	905	-			279			C-type lectin.			Silent	SNP	ENST00000328853.5	37	c.837C>T	CCDS12185.1																																																																																				0.627	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		5	26	0	0	0	1	0	5	26					A	7794297	G	A	7794297	2	1	496	1	0	0	0	0	0	0	0	1	3517	1368	48	2		2	CLEC4G	19	7794297	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		7794297	51334686	43	39993											
COL5A3	50509	broad.mit.edu	37	chr19	10079133	10079133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttctcaccagcttctccCggggggccaatgagaccgat	10	15	2	1	rs537422545		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:10079133C>T	ENST00000264828.3	-	59	4327	c.4242G>A	c.(4240-4242)ccG>ccA	p.P1414P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGCTTCTCCCGGGGGGCCAA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.001	False		,,,				2504	0.0					ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4240-4242)ccG>ccA		collagen, type V, alpha 3							90	101	97					19																	10079133		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079133C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4242G>A	19.37:g.10079133C>T							p.P1414P	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4327	-			1414			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4242G>A	CCDS12222.1																																																																																				0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	90	0	0	0	1	0	19	90					T	10079133	C	T	10079133	2	4	496	1	0	0	0	0	0	0	0	1	3698	639	23	1		1	COL5A3	19	10079133	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	2284836	10079133	49049850	44	39994											
CD97	976	broad.mit.edu	37	chr19	14492346	14492346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccaaccatgggaggccGcgtctttctcggtaagtact	11	12	2	0	rs375635407		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:14492346G>A	ENST00000242786.5	+	1	91	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.R4H|CD97_ENST00000358600.3_Missense_Mutation_p.R4H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	4					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						ATGGGAGGCCGCGTCTTTCTC	0.672																																						ENST00000242786.5																			0				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						c.(10-12)cGc>cAc		CD97 molecule		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	29	31	30		11,11,11	-4.6	0	19		30	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	4/787,4/743,4/836	14492346	1,13005	2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14492346G>A		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.11G>A	19.37:g.14492346G>A	ENSP00000242786:p.Arg4His					CD97_ENST00000357355.3_Missense_Mutation_p.R4H|CD97_ENST00000358600.3_Missense_Mutation_p.R4H|CD97_ENST00000587728.1_Intron	p.R4H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			1	91	+			4					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.11G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	8.729	0.916231	0.17907	0.0	1.16E-4	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600	T;T;T	0.72615	-0.67;-0.6;-0.28	2.28	-4.56	0.03431	.	.	.	.	.	T	0.53094	0.1775	L	0.48642	1.525	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	0.21655	-1.0239	9	0.35671	T	0.21	.	0.8122	0.01096	0.3165:0.1172:0.1499:0.4164	.	4;4;4	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	4	ENSP00000242786:R4H;ENSP00000349918:R4H;ENSP00000351413:R4H	ENSP00000242786:R4H	R	+	2	0	CD97	14353346	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.863000	0.04259	-2.940000	0.00297	-0.234000	0.12200	CGC		0.672	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		3	34	0	0	0	1	0	3	34					A	14492346	G	A	14492346	3	1	496	1	0	0	0	0	1	0	0	0	3049	1087	38	1	13	1	CD97	19	14492346	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	4413213	14492346	44636637	45	39995											
NWD1	284434	broad.mit.edu	37	chr19	16905360	16905360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagtccctcctcgcCgcaggtagcgtttagctctc	11	13	1	2	rs201898485		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:16905360C>T	ENST00000552788.1	+	13	3300	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000524140.2_Silent_p.A1100A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							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						CCCTCCTCGCCGCAGGTAGCG	0.547																																						ENST00000524140.2																			0				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						c.(3298-3300)gcC>gcT		NACHT and WD repeat domain containing 1							83	65	71					19																	16905360		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16905360C>T	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.3300C>T	19.37:g.16905360C>T						NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A	p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			15	3718	+			1100					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3300C>T																																																																																					0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	22	0	0	0	1	0	6	22					T	16905360	C	T	16905360	2	4	496	1	0	0	0	0	0	0	0	1	10781	639	23	1		1	NWD1	19	16905360	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	2413014	16905360	42223623	46	39996											
CST4	1472	broad.mit.edu	37	chr20	23667836	23667836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaattcacccccccaaaGgtctgcacacaggagaaaac	7	13	2	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:23667836G>A	ENST00000217423.3	-	2	301	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	77			T -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCCCCAAAGGTCTGCACAC	0.562																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(229-231)acC>acT		cystatin S							209	192	198					20																	23667836		2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667836G>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.231C>T	20.37:g.23667836G>A							p.T77T	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			2	301	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		77		T -> N (in a breast cancer sample; somatic mutation).			Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.231C>T	CCDS13159.1																																																																																				0.562	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		43	145	0	0	0	1	0	43	145					A	23667836	G	A	23667836	2	1	496	1	0	0	0	0	0	0	0	1	3974	987	35	2		2	CST4	20	23667836	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		23667836	39357684	47	39997											
DNMT3B	1789	broad.mit.edu	37	chr20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgtttgatggcatcgCgacaggtgagttcggggaac	15	7	1	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:31387129C>T	ENST00000328111.2	+	16	2075	c.1754C>T	c.(1753-1755)gCg>gTg	p.A585V	DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	585	S-adenosyl-L-methionine binding. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		A -> V (in ICF1). {ECO:0000269|PubMed:11102980, ECO:0000269|PubMed:15580563}.		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 on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGCATCGCGACAGGTGAG	0.577																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	GRCh37	CM002946	DNMT3B	M		c.(1753-1755)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3 beta							68	58	61					20																	31387129		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31387129C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1754C>T	20.37:g.31387129C>T	ENSP00000328547:p.Ala585Val					DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V	p.A585V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			16	2075	+			585		A -> V (in ICF).			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1754C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591938	0.86953	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;T;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;0.96;-4.05	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.999;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.77557	0.969;0.99;0.981;0.959;0.973;0.959;0.961	D	0.98635	1.0673	10	0.87932	D	0	-21.1672	19.412	0.94677	0.0:1.0:0.0:0.0	.	489;523;284;577;565;565;585	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	V	585;565;565;523;489;565;577	ENSP00000328547:A585V;ENSP00000313397:A565V;ENSP00000337764:A565V;ENSP00000403169:A523V;ENSP00000412305:A489V;ENSP00000345105:A565V;ENSP00000201963:A577V	ENSP00000201963:A577V	A	+	2	0	DNMT3B	30850790	1.000000	0.71417	0.943000	0.38184	0.166000	0.22503	7.758000	0.85224	2.828000	0.97474	0.655000	0.94253	GCG		0.577	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		8	8	0	0	0	1	0	8	8					T	31387129	C	T	31387129	3	4	496	1	0	0	0	0	1	0	0	0	4677	768	27	1	1852	1	DNMT3B	20	31387129	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	7719293	31387129	31638391	48	39998											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666729	19666729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaacaatctttggggTgatgtcttgagctgccagtt	10	10	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr21:19666729T>C	ENST00000284885.3	-	21	2377	c.2344A>G	c.(2344-2346)Acc>Gcc	p.T782A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	782						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						ATCTTTGGGGTGATGTCTTGA	0.458																																						ENST00000284885.3																			0				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						c.(2344-2346)Acc>Gcc		transmembrane protease, serine 15							105	114	111					21																	19666729		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666729T>C		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.2344A>G	21.37:g.19666729T>C	ENSP00000284885:p.Thr782Ala						p.T782A	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2377	-			782					Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2344A>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	3.747	-0.052480	0.07362	.	.	ENSG00000154646	ENST00000284885	D	0.92805	-3.11	5.79	-0.97	0.10306	Speract/scavenger receptor (1);Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.852415	0.10903	N	0.621346	T	0.79149	0.4397	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.64210	-0.6461	9	.	.	.	.	4.942	0.13971	0.0:0.3069:0.2948:0.3983	.	782	P98073	ENTK_HUMAN	A	782	ENSP00000284885:T782A	.	T	-	1	0	TMPRSS15	18588600	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.154000	0.10130	-0.151000	0.11176	0.523000	0.50628	ACC		0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		28	106	0	0	0	1	0	28	106					C	19666729	T	C	19666729	3	2	496	1	0	0	0	0	1	0	0	0	16243	1696	59	3	735	3	TMPRSS15	21	19666729	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		19666729	28463166	49	39999											
TSPAN7	7102	broad.mit.edu	37	chrX	38546915	38546915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccaatcagtatgagatGgtgtaaggagaaggtaggtg	16	4	1	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:38546915G>A	ENST00000378482.2	+	7	921	c.744G>A	c.(742-744)atG>atA	p.M248I	TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I|TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	248					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						AGTATGAGATGGTGTAAGGAG	0.498																																						ENST00000378482.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(742-744)atG>atA		tetraspanin 7							124	96	106					X																	38546915		2202	4300	6502	SO:0001583	missense	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38546915G>A	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.744G>A	X.37:g.38546915G>A	ENSP00000367743:p.Met248Ile					TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I|TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I	p.M248I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN			7	921	+			248					B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	c.744G>A	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307125	0.60305	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	D;T;T;T;T	0.91407	-2.84;1.25;1.28;1.24;1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.48877	1.53	0.80722	D	1	B;B;B	0.22683	0.017;0.073;0.038	B;B;B	0.22753	0.024;0.041;0.009	D	0.83674	0.0168	9	.	.	.	.	19.1327	0.93414	0.0:0.0:1.0:0.0	.	265;274;248	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	I	278;248;274;265;222	ENSP00000417050:M278I;ENSP00000367743:M248I;ENSP00000388954:M274I;ENSP00000286824:M265I;ENSP00000441540:M222I	.	M	+	3	0	RP5-972B16.2;TSPAN7	38431859	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.430000	0.97488	2.469000	0.83416	0.600000	0.82982	ATG		0.498	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			3	28	0	0	0	1	0	3	28					A	38546915	G	A	38546915	3	1	496	1	0	0	0	0	1	0	0	0	16649	1348	47	2	770	2	TSPAN7	23	38546915	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		38546915	116723645	50	40000											
PORCN	64840	broad.mit.edu	37	chrX	48369767	48369767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccagctgcacatggtttGggtcgtgctgctcagcctcc	11	14	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:48369767G>T	ENST00000326194.6	+	2	264	c.221G>T	c.(220-222)tGg>tTg	p.W74L	PORCN_ENST00000361988.3_Missense_Mutation_p.W74L|PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L|PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000367574.4_Missense_Mutation_p.W3L	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	74	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACATGGTTTGGGTCGTGCTG	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(7-9)tGg>tTg		porcupine homolog (Drosophila)							244	178	200					X																	48369767		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48369767G>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.221G>T	X.37:g.48369767G>T	ENSP00000322304:p.Trp74Leu		OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000361988.3_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|PORCN_ENST00000326194.6_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L	p.W3L			Q9H237	PORCN_HUMAN			3	513	+			74					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.8G>T	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128774	0.94473	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D;D	0.97378	-3.35;-4.36;-3.24;-3.34;-2.65;-3.37;-4.36;-3.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	L	0.43923	1.385	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.978;0.986;0.993;0.978;0.978;1.0	P;P;D;P;P;D	0.87578	0.852;0.843;0.968;0.852;0.852;0.998	D	0.95424	0.8510	10	0.17369	T	0.5	-5.2993	13.2839	0.60232	0.0:0.0:1.0:0.0	.	74;74;3;74;74;74	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.;.	L	74;74;3;74;74;74;74;74	ENSP00000352946:W74L;ENSP00000446401:W74L;ENSP00000356546:W3L;ENSP00000348233:W74L;ENSP00000419212:W74L;ENSP00000354978:W74L;ENSP00000322304:W74L;ENSP00000347207:W74L	ENSP00000322304:W74L	W	+	2	0	PORCN	48254711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.452000	0.90346	2.198000	0.70561	0.436000	0.28706	TGG		0.567	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		29	122	1	0	4.87955e-14	1	4.95462e-14	29	122					T	48369767	G	T	48369767	3	4	496	1	0	0	0	0	1	0	0	0	12258	1357	47	4	227	4	PORCN	23	48369767	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	9822852	48369767	106900793	51	40001											
AKAP4	8852	broad.mit.edu	37	chrX	49961552	49961552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtgtaccttagactggTctttcttctcagtgtccttg	8	9	3	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:49961552T>C	ENST00000376056.2	-	4	389	c.239A>G	c.(238-240)gAc>gGc	p.D80G	AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAGACTGGTCTTTCTTCTC	0.438																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(238-240)gAc>gGc		A kinase (PRKA) anchor protein 4							242	189	207					X																	49961552		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49961552T>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.239A>G	X.37:g.49961552T>C	ENSP00000365224:p.Asp80Gly					AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G|AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR	p.D80G			Q5JQC9	AKAP4_HUMAN			4	389	-	Ovarian(276;0.236)		89						Missense_Mutation	SNP	ENST00000376056.2	37	c.239A>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354804	0.41700	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.57	4.57	0.56435	.	0.000000	0.41605	D	0.000850	T	0.50854	0.1640	M	0.68317	2.08	0.25243	N	0.989732	D;D	0.67145	0.996;0.996	P;P	0.60473	0.825;0.875	T	0.44574	-0.9319	9	.	.	.	-18.4191	9.6577	0.39936	0.0:0.0:0.0:1.0	.	89;80	Q5JQC9;A6ND82	AKAP4_HUMAN;.	G	80;80;89;80;80;80	ENSP00000365224:D80G;ENSP00000365226:D80G;ENSP00000351327:D89G;ENSP00000365232:D80G;ENSP00000402403:D80G;ENSP00000412279:D80G	.	D	-	2	0	AKAP4	49848292	1.000000	0.71417	0.989000	0.46669	0.801000	0.45260	2.651000	0.46674	1.614000	0.50241	0.417000	0.27973	GAC		0.438	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		13	63	0	0	0	1	0	13	63					C	49961552	T	C	49961552	3	2	496	1	0	0	0	0	1	0	0	0	453	1667	58	3	2310	3	AKAP4	23	49961552	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	1591785	49961552	105309008	52	40002											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	8	9	3	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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						GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1960-1962)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						130	138	135					X																	76938788		2203	4291	6494	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938788G>A	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.1960C>T	X.37:g.76938788G>A	ENSP00000362441:p.Arg654*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	p.R654*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2174	-			654					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1960C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694384	0.98438	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.33	3.4	0.38934	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0998	12.9298	0.58280	0.0:0.0:0.4977:0.5023	.	.	.	.	X	654;616;581	.	ENSP00000362441:R654X	R	-	1	2	ATRX	76825444	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.691000	0.37721	0.971000	0.38288	0.513000	0.50165	CGA		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		87	156	0	0	0	1	0	87	156					A	76938788	G	A	76938788	4	1	496	1	0	0	0	0	0	1	0	0	1208	1066	37	1	5626	1	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	26977236	76938788	78331772	53	40003											
SLITRK2	84631	broad.mit.edu	37	chrX	144904070	144904070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaacgtactgAatatcaactgtgagaacaaa	8	5	1	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:144904070A>G	ENST00000370490.1	+	1	4382	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	43					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGTACTGAATATCAACTG	0.453																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(127-129)Aat>Gat		SLIT and NTRK-like family, member 2							97	82	87					X																	144904070		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904070A>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.127A>G	X.37:g.144904070A>G	ENSP00000359521:p.Asn43Asp					SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D	p.N43D			Q9H156	SLIK2_HUMAN			1	4382	+	Acute lymphoblastic leukemia(192;6.56e-05)		43					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.127A>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463241	0.26248	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	4.86	4.86	0.63082	Leucine-rich repeat-containing N-terminal (1);	0.053779	0.64402	U	0.000001	T	0.40145	0.1105	L	0.44542	1.39	0.47698	D	0.999493	P	0.51351	0.944	B	0.42138	0.377	T	0.24728	-1.0152	10	0.36615	T	0.2	-9.558	11.4578	0.50191	1.0:0.0:0.0:0.0	.	43	Q9H156	SLIK2_HUMAN	D	43	ENSP00000334374:N43D;ENSP00000411681:N43D;ENSP00000359521:N43D;ENSP00000397015:N43D;ENSP00000407347:N43D;ENSP00000412010:N43D	ENSP00000334374:N43D	N	+	1	0	SLITRK2	144711762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.032000	0.70918	1.603000	0.50134	0.430000	0.28490	AAT		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		29	24	0	0	0	1	0	29	24					G	144904070	A	G	144904070	3	3	496	1	0	0	0	0	1	0	0	0	14743	246	9	3	129	3	SLITRK2	23	144904070	Missense_Mutation	SNP	A	TCGA-VM-A8C8-01A-11D-A36O-08	67965282	144904070	10366490	54	40004											
NSDHL	50814	broad.mit.edu	37	chrX	152034434	152034434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctcatggcattttcggCccaagggacccgcagttggt	12	14	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:152034434C>T	ENST00000370274.3	+	6	809	c.615C>T	c.(613-615)ggC>ggT	p.G205G	NSDHL_ENST00000440023.1_Silent_p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	205			G -> S (in CHILD). {ECO:0000269|PubMed:10710235}.		cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTTTCGGCCCAAGGGACC	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(613-615)ggC>ggT		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						120	110	114					X																	152034434		2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152034434C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.615C>T	X.37:g.152034434C>T						NSDHL_ENST00000440023.1_Silent_p.G205G	p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			6	809	+	Acute lymphoblastic leukemia(192;6.56e-05)		205		G -> S (in CHILD).			D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.615C>T	CCDS14717.1																																																																																				0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		31	60	0	0	0	1	0	31	60					T	152034434	C	T	152034434	2	4	496	1	0	0	0	0	0	0	0	1	10670	726	26	2		2	NSDHL	23	152034434	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	7130364	152034434	3236126	55	40005											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854386	12854386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcattgaaaataatatacCtgaatagtattcaagagctg	7	5	2	3	rs1063767		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:12854386C>T	ENST00000332296.7	+	3	713	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	204			L -> M (in dbSNP:rs1063767).		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)		AATAATATACCTGAATAGTAT	0.393																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(610-612)Ctg>Ttg		PRAME family member 1							321	308	313					1																	12854386		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854386C>T	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.610C>T	1.37:g.12854386C>T							p.L204L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		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)	3	713	+	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)	204		L -> M (in dbSNP:rs1063767).			Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.610C>T	CCDS148.1																																																																																				0.393	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		6	539	0	0	0	1	0	6	539					T	12854386	C	T	12854386	2	4	497	1	0	0	0	0	0	0	0	1	12425	680	24	2		2	PRAMEF1	1	12854386	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		12854386	236396235	1	40006											
SORT1	6272	broad.mit.edu	37	chr1	109878960	109878960	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgatcatggtctggaTagaattatctgaatgggaag	12	3	3	3			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:109878960T>C	ENST00000256637.6	-	11	1331	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SORT1_ENST00000538502.1_Missense_Mutation_p.I288V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	425					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATGGTCTGGATAGAATTATCT	0.428																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1273-1275)Atc>Gtc		sortilin 1							144	127	133					1																	109878960		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109878960T>C	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1273A>G	1.37:g.109878960T>C	ENSP00000256637:p.Ile425Val					SORT1_ENST00000538502.1_Missense_Mutation_p.I288V	p.I425V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	11	1331	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	425					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1273A>G	CCDS798.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574243	0.28092	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.26067	1.76;1.76	5.69	4.57	0.56435	VPS10 (1);	0.126603	0.53938	N	0.000052	T	0.04003	0.0112	N	0.11698	0.16	0.41978	D	0.990784	B;B	0.09022	0.0;0.002	B;B	0.12837	0.001;0.008	T	0.27157	-1.0082	10	0.05525	T	0.97	-9.2065	10.7519	0.46213	0.0:0.0758:0.0:0.9242	.	288;425	B4DWI3;Q99523	.;SORT_HUMAN	V	425;288	ENSP00000256637:I425V;ENSP00000438597:I288V	ENSP00000256637:I425V	I	-	1	0	SORT1	109680483	0.999000	0.42202	0.924000	0.36721	0.991000	0.79684	3.535000	0.53575	0.984000	0.38629	0.533000	0.62120	ATC		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		5	31	0	0	0	1	0	5	31					C	109878960	T	C	109878960	3	2	497	1	0	0	0	0	1	0	0	0	14935	1406	49	3	1262	3	SORT1	1	109878960	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08	97024574	109878960	139371661	2	40007											
PARP9	83666	broad.mit.edu	37	chr3	122274172	122274172	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctggacaatctggagggtCaggttgttcacgaccattgc	12	11	3	0			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:122274172C>T	ENST00000360356.2	-	4	1178	c.951G>A	c.(949-951)ctG>ctA	p.L317L	PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000462315.1_Silent_p.L282L	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	317	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTGGAGGGTCAGGTTGTTCA	0.453																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(844-846)ctG>ctA		poly (ADP-ribose) polymerase family, member 9							132	130	131					3																	122274172		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274172C>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.951G>A	3.37:g.122274172C>T						PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000360356.2_Silent_p.L317L|PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron	p.L282L	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	1139	-			317			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.846G>A	CCDS3014.1																																																																																				0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		7	65	0	0	0	1	0	7	65					T	122274172	C	T	122274172	2	4	497	1	0	0	0	0	0	0	0	1	11466	813	29	2		2	PARP9	3	122274172	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		122274172	75748258	3	40008											
PIK3CA	5290	broad.mit.edu	37	chr3	178938891	178938891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtcgaggcaatggaaaaGctcattaacttaactgacat	8	8	1	1			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:178938891G>T	ENST00000263967.3	+	14	2290	c.2133G>T	c.(2131-2133)aaG>aaT	p.K711N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	711					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)	CAATGGAAAAGCTCATTAACT	0.433		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				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						c.(2131-2133)aaG>aaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90	80	83					3																	178938891		1910	4110	6020	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178938891G>T		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.2133G>T	3.37:g.178938891G>T	ENSP00000263967:p.Lys711Asn	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K711N	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		14	2290	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		711					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2133G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661953	0.67700	.	.	ENSG00000121879	ENST00000263967	D	0.81499	-1.5	5.41	1.03	0.20045	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85018	0.0910	10	0.49607	T	0.09	-16.9944	8.5998	0.33738	0.5159:0.0:0.4841:0.0	.	711	P42336	PK3CA_HUMAN	N	711	ENSP00000263967:K711N	ENSP00000263967:K711N	K	+	3	2	PIK3CA	180421585	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.500000	0.35682	0.271000	0.22005	-0.142000	0.14014	AAG		0.433	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	25	1	0	5.9392e-07	1	5.9392e-07	6	25					T	178938891	G	T	178938891	3	4	497	1	0	0	0	0	1	0	0	0	11913	962	34	4	2183	4	PIK3CA	3	178938891	Missense_Mutation	SNP	G	TCGA-VM-A8C9-01A-11D-A36O-08	56664719	178938891	19083539	4	40009											
PCDH10	57575	broad.mit.edu	37	chr4	134072440	134072440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggcccttttcagcgTgactgaccgcgactcagagg	14	11	2	3			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr4:134072440T>C	ENST00000264360.5	+	1	1971	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	382	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(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)		CTTTTCAGCGTGACTGACCGC	0.582																																						ENST00000264360.4																			0				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						c.(1144-1146)gTg>gCg		protocadherin 10							95	95	95					4																	134072440		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072440T>C	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.1145T>C	4.37:g.134072440T>C	ENSP00000264360:p.Val382Ala						p.V382A	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1971	+			382			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1145T>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497135	0.64186	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.38077	1.16	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.43299	0.1241	N	0.20401	0.57	0.80722	D	1	D;P	0.71674	0.998;0.944	D;P	0.81914	0.995;0.874	T	0.33854	-0.9852	10	0.35671	T	0.21	.	13.979	0.64291	0.0:0.0:0.0:1.0	.	382;382	Q9P2E7;Q96SF0	PCD10_HUMAN;.	A	382	ENSP00000264360:V382A	ENSP00000264360:V382A	V	+	2	0	PCDH10	134291890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.134000	0.71689	1.963000	0.57068	0.459000	0.35465	GTG		0.582	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	85	0	0	0	1	0	5	85					C	134072440	T	C	134072440	3	2	497	1	0	0	0	0	1	0	0	0	11507	1696	59	3	1147	3	PCDH10	4	134072440	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		134072440	57081836	5	40010											
SLC17A4	10050	broad.mit.edu	37	chr6	25776865	25776865	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgttgttggatgtatcTgcattatccttggaggtcta	11	6	2	0			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:25776865T>A	ENST00000377905.4	+	9	1149	c.1030T>A	c.(1030-1032)Tgc>Agc	p.C344S	SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	344					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)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGATGTATCTGCATTATCCT	0.507																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1030-1032)Tgc>Agc		solute carrier family 17, member 4							271	252	258					6																	25776865		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25776865T>A	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1030T>A	6.37:g.25776865T>A	ENSP00000367137:p.Cys344Ser					SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S	p.C344S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			9	1149	+			344					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1030T>A	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954615	0.53293	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.56776	0.44;0.55;0.44	5.63	1.11	0.20524	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.352612	0.24825	N	0.035286	T	0.19287	0.0463	L	0.31526	0.94	0.09310	N	1	B;B;B	0.27416	0.01;0.178;0.005	B;B;B	0.29862	0.015;0.108;0.01	T	0.18085	-1.0348	10	0.42905	T	0.14	.	8.8711	0.35316	0.5723:0.0:0.0:0.4277	.	114;114;344	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	S	344;114;114	ENSP00000367137:C344S;ENSP00000391345:C114S;ENSP00000380266:C114S	ENSP00000367137:C344S	C	+	1	0	SLC17A4	25884844	0.000000	0.05858	0.020000	0.16555	0.995000	0.86356	-0.383000	0.07398	0.439000	0.26476	0.533000	0.62120	TGC		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			4	76	0	0	0	1	0	4	76					A	25776865	T	A	25776865	3	1	497	1	0	0	0	0	1	0	0	0	14419	1580	55	5	1060	5	SLC17A4	6	25776865	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		25776865	145338202	6	40011											
GFRAL	389400	broad.mit.edu	37	chr6	55216162	55216162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcagcaaatggaaatcCgtgtgatctgaaacagtgcc	10	9	2	2			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:55216162C>T	ENST00000340465.2	+	5	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	161					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(481-483)cCg>cTg		GDNF family receptor alpha like							267	239	249					6																	55216162		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216162C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.482C>T	6.37:g.55216162C>T	ENSP00000343636:p.Pro161Leu						p.P161L	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	568	+	Lung NSC(77;0.0875)|Renal(3;0.122)		161					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.482C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511127	0.27036	.	.	ENSG00000187871	ENST00000340465	T	0.62364	0.03	5.76	0.877	0.19145	GDNF/GAS1 (2);	0.575663	0.16620	N	0.206533	T	0.10121	0.0248	N	0.03608	-0.345	0.27178	N	0.960738	B	0.09022	0.002	B	0.04013	0.001	T	0.36065	-0.9763	10	0.06891	T	0.86	-5.8422	5.4105	0.16346	0.1529:0.3316:0.0:0.5155	.	161	Q6UXV0	GFRAL_HUMAN	L	161	ENSP00000343636:P161L	ENSP00000343636:P161L	P	+	2	0	GFRAL	55324121	0.987000	0.35691	0.979000	0.43373	0.991000	0.79684	0.494000	0.22467	0.206000	0.20587	0.655000	0.94253	CCG		0.448	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		7	144	0	0	0	1	0	7	144					T	55216162	C	T	55216162	3	4	497	1	0	0	0	0	1	0	0	0	6351	652	23	1	500	1	GFRAL	6	55216162	Missense_Mutation	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08	29439297	55216162	115898905	7	40012											
A2ML1	144568	broad.mit.edu	37	chr12	9001419	9001419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactttcctcagcccctcaTtgacccaatgccccaagggc	8	17	2	1	rs150488553		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr12:9001419T>C	ENST00000299698.7	+	16	2117	c.1937T>C	c.(1936-1938)aTt>aCt	p.I646T	A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T	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						CAGCCCCTCATTGACCCAATG	0.527													T|||	6	0.00119808	0.0038	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000299698.7																			0				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						c.(1936-1938)aTt>aCt		alpha-2-macroglobulin-like 1		T	THR/ILE	18,3928		0,18,1955	188	175	179		1937	2.8	0	12	dbSNP_134	179	1,8299		0,1,4149	yes	missense	A2ML1	NM_144670.3	89	0,19,6104	CC,CT,TT		0.012,0.4562,0.1552	benign	646/1455	9001419	19,12227	1973	4150	6123	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001419T>C	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.1937T>C	12.37:g.9001419T>C	ENSP00000299698:p.Ile646Thr					A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T	p.I646T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			16	2117	+			490						Missense_Mutation	SNP	ENST00000299698.7	37	c.1937T>C	CCDS8596.2	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	T	6.706	0.498898	0.12762	0.004562	1.2E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.32753	1.44;1.56;2.11;1.5	2.84	2.84	0.33178	.	1.530910	0.04125	N	0.316964	T	0.15478	0.0373	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14811	-1.0459	10	0.16896	T	0.51	.	7.5658	0.27879	0.0:0.0:0.0:1.0	.	646	A8K2U0	A2ML1_HUMAN	T	646;646;196;155;158	ENSP00000299698:I646T;ENSP00000443174:I196T;ENSP00000438292:I155T;ENSP00000440057:I158T	ENSP00000299698:I646T	I	+	2	0	A2ML1	8892686	0.002000	0.14202	0.020000	0.16555	0.535000	0.34838	1.101000	0.31037	1.554000	0.49487	0.374000	0.22700	ATT		0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		9	125	0	0	0	1	0	9	125					C	9001419	T	C	9001419	3	2	497	1	0	0	0	0	1	0	0	0	5	1493	52	3	1999	3	A2ML1	12	9001419	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		9001419	124850476	8	40013											
XPO4	64328	broad.mit.edu	37	chr13	21361632	21361632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttaccttaagaaagtgCcgtgttgctagaaaaagtgg	10	7	1	2			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr13:21361632C>T	ENST00000255305.6	-	21	3224	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000400602.2_Silent_p.R1051R			Q9C0E2	XPO4_HUMAN	exportin 4	1051					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(3151-3153)cgG>cgA		exportin 4							124	123	123					13																	21361632		1920	4139	6059	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21361632C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3153G>A	13.37:g.21361632C>T						XPO4_ENST00000255305.6_Silent_p.R1051R	p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	21	3188	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1051					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.3153G>A	CCDS41872.1																																																																																				0.458	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		3	57	0	0	0	1	0	3	57					T	21361632	C	T	21361632	2	4	497	1	0	0	0	0	0	0	0	1	17443	726	26	2		2	XPO4	13	21361632	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		21361632	93808246	9	40014											
NEURL2	140825	broad.mit.edu	37	chr20	44517457	44517457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcccatcaatggccagCcggtgcaccatgctcctttg	11	14	1	0			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R	CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(796-798)cgG>cgA		neuralized E3 ubiquitin protein ligase 2							96	81	86					20																	44517457		2203	4300	6503	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44517457C>T	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"chromosome 20 open reading frame 163", "neuralized-like 2 (Drosophila)", "neuralized homolog 2 (Drosophila)"	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.798G>A	20.37:g.44517457C>T							p.R266R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			2	1093	-		Myeloproliferative disorder(115;0.0122)	266			SOCS box.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.798G>A	CCDS13384.1																																																																																				0.552	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			3	39	0	0	0	1	0	3	39					T	44517457	C	T	44517457	2	4	497	1	0	0	0	0	0	0	0	1	10346	726	26	2		2	NEURL2	20	44517457	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		44517457	18508063	10	40015											
ZGPAT	84619	broad.mit.edu	37	chr20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgtggtggagggggAcggcatcctgcccccactgc	18	13	0	0			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					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)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(787-789)gAc>gGc		zinc finger, CCCH-type with G patch domain							135	130	132					20																	62365008		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365008A>G	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.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly					ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G	p.D263G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	915	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		263					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.788A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	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	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		4	174	0	0	0	1	0	4	174					G	62365008	A	G	62365008	3	3	497	1	0	0	0	0	1	0	0	0	17671	275	10	3	798	3	ZGPAT	20	62365008	Missense_Mutation	SNP	A	TCGA-VM-A8C9-01A-11D-A36O-08	17847551	62365008	660512	11	40016											
MEGF6	1953	broad.mit.edu	37	chr1	3428675	3428675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacactgggccagccctgCggcacattcgtccacatctg	11	16	1	0	rs115175505	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:3428675C>T	ENST00000356575.4	-	8	1097	c.871G>A	c.(871-873)Gca>Aca	p.A291T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	291	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCAGCCCTGCGGCACATTCG	0.652													C|||	9	0.00179712	0.0061	0.0	5008	,	,		19318	0.0		0.001	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(871-873)Gca>Aca		multiple EGF-like-domains 6		C	THR/ALA	5,4233		0,5,2114	55	64	61		871	-4.8	0	1	dbSNP_132	61	0,8448		0,0,4224	no	missense	MEGF6	NM_001409.3	58	0,5,6338	TT,TC,CC		0.0,0.118,0.0394	benign	291/1542	3428675	5,12681	2119	4224	6343	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3428675C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.871G>A	1.37:g.3428675C>T	ENSP00000348982:p.Ala291Thr					MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T	p.A291T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1097	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	291			EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.871G>A	CCDS41237.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	C	0.130	-1.114883	0.01799	0.00118	0.0	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91686	-2.89;-2.89	4.46	-4.84	0.03151	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.791726	0.11364	N	0.571659	T	0.62073	0.2398	N	0.02142	-0.665	0.09310	N	1	B;B	0.15473	0.004;0.013	B;B	0.12837	0.008;0.004	T	0.65018	-0.6270	10	0.11794	T	0.64	0.0378	0.8346	0.01137	0.1818:0.187:0.3018:0.3293	.	291;186	O75095;O75095-2	MEGF6_HUMAN;.	T	186;291	ENSP00000294599:A186T;ENSP00000348982:A291T	ENSP00000294599:A186T	A	-	1	0	MEGF6	3418535	0.000000	0.05858	0.005000	0.12908	0.087000	0.18053	-2.172000	0.01266	-0.668000	0.05296	-0.339000	0.08088	GCA		0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	46	0	0	0	1	0	3	46					T	3428675	C	T	3428675	3	4	498	1	0	0	0	0	1	0	0	0	9462	768	27	1	3874	1	MEGF6	1	3428675	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		3428675	245821946	1	40017											
CNKSR1	10256	broad.mit.edu	37	chr1	26511516	26511517	+	Frame_Shift_Ins	INS	-	-	T													tgctacaggcctggcgacccINSggctgagccgccggcgggtg					rs376124859		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:26511516_26511517insT	ENST00000374253.5	+	14	1207_1208	c.1168_1169insT	c.(1168-1170)cggfs	p.R390fs	CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.R383fs|CNKSR1_ENST00000531191.1_Frame_Shift_Ins_p.R125fs	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	390					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|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;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGCGACCCGGCTGAGCCGC	0.693																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(373-375)gctfs		connector enhancer of kinase suppressor of Ras 1																																				SO:0001589	frameshift_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26511516_26511517insT	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	Exception_encountered	1.37:g.26511516_26511517insT	ENSP00000363371:p.Arg390fs					CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.A383fs|CNKSR1_ENST00000374253.5_Frame_Shift_Ins_p.A390fs	p.A125fs			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	13	1380_1381	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	390			CRIC.		B1AMW9|O95381	Frame_Shift_Ins	INS	ENST00000374253.5	37	c.373_374insT																																																																																					0.693	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		2	4						2	4	---	---	---	---	T	26511517	-	T	26511516	7	5	498	1	0	1	1	0	0	0	0	0	3606	643	23	0	1201	0	CNKSR1	1	26511516	Frame_Shift_Ins	INS	-	TCGA-VM-A8CA-01A-11D-A36O-08	23082841	26511516	222739105	2	40018											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		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)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		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)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	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						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	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.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		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)	3	435	-	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)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		48	30	0	0	0	1	0	48	30					C	115256529	T	C	115256529	3	2	498	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	88745013	115256529	133994092	3	40019											
VTCN1	79679	broad.mit.edu	37	chr1	117699297	117699297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcacgtttttcagccgcAaagaggcattgccaactatc	9	11	1	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:117699297A>G	ENST00000369458.3	-	3	422	c.344T>C	c.(343-345)tTg>tCg	p.L115S	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTCAGCCGCAAAGAGGCATT	0.453																																						ENST00000369458.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(343-345)tTg>tCg		V-set domain containing T cell activation inhibitor 1							100	95	97					1																	117699297		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117699297A>G	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28873	protein-coding gene	gene with protein product	"B7 family member, H4", "B7 superfamily member 1"	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.344T>C	1.37:g.117699297A>G	ENSP00000358470:p.Leu115Ser					VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S|VTCN1_ENST00000328189.3_Intron	p.L115S	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	422	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	115			Ig-like V-type 1.			Missense_Mutation	SNP	ENST00000369458.3	37	c.344T>C	CCDS894.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159271	0.78226	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.16324	2.35;2.35;2.35	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000174	T	0.43322	0.1242	M	0.91872	3.25	0.42496	D	0.992917	D	0.89917	1.0	D	0.97110	1.0	T	0.56195	-0.8019	10	0.87932	D	0	-4.8015	14.3932	0.66994	1.0:0.0:0.0:0.0	.	115	Q7Z7D3	VTCN1_HUMAN	S	115;118;20	ENSP00000358470:L115S;ENSP00000351899:L118S;ENSP00000444724:L20S	ENSP00000351899:L118S	L	-	2	0	VTCN1	117500820	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.742000	0.74843	2.332000	0.79248	0.519000	0.50382	TTG		0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		27	17	0	0	0	1	0	27	17					G	117699297	A	G	117699297	3	3	498	1	0	0	0	0	1	0	0	0	17231	131	5	3	516	3	VTCN1	1	117699297	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08	2442768	117699297	131551324	4	40020											
FLG	2312	broad.mit.edu	37	chr1	152275810	152275810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcttctcctggaccccGctgattcaccctggccggac	10	18	2	1	rs150496930		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:152275810G>A	ENST00000368799.1	-	3	11587	c.11552C>T	c.(11551-11553)gCg>gTg	p.A3851V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3851	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)			CCTGGACCCCGCTGATTCACC	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(11551-11553)gCg>gTg		filaggrin		G	VAL/ALA	0,4406		0,0,2203	198	205	203		11552	-1	0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	no	missense	FLG	NM_002016.1	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	3851/4062	152275810	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275810G>A	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.11552C>T	1.37:g.152275810G>A	ENSP00000357789:p.Ala3851Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A3851V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11587	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3851			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11552C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310706	0.10733	0.0	2.33E-4	ENSG00000143631	ENST00000368799	T	0.03920	3.76	2.31	-1.02	0.10135	.	.	.	.	.	T	0.01124	0.0037	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.47071	-0.9145	9	0.29301	T	0.29	.	2.6351	0.04955	0.2854:0.0:0.4926:0.2221	.	3851	P20930	FILA_HUMAN	V	3851	ENSP00000357789:A3851V	ENSP00000357789:A3851V	A	-	2	0	FLG	150542434	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.927000	0.00332	-0.228000	0.09869	-0.240000	0.12126	GCG		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		4	275	0	0	0	1	0	4	275					A	152275810	G	A	152275810	3	1	498	1	0	0	0	0	1	0	0	0	5922	1087	38	1	637	1	FLG	1	152275810	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	34576513	152275810	96974811	5	40021											
NPHS2	7827	broad.mit.edu	37	chr1	179526176	179526176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacctttgcatcttgggCgatgctcttcctctctagaa	8	11	3	1	rs201355305		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:179526176C>T	ENST00000367615.4	-	5	792	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	242			A -> V. {ECO:0000269|PubMed:15253708}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCATCTTGGGCGATGCTCTTC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		22256	0.001		0.0	False		,,,				2504	0.0					ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(724-726)Gcc>Acc		nephrosis 2, idiopathic, steroid-resistant (podocin)							81	70	74					1																	179526176		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526176C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.724G>A	1.37:g.179526176C>T	ENSP00000356587:p.Ala242Thr					NPHS2_ENST00000367616.4_Intron	p.A242T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			5	792	-			242					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.724G>A	CCDS1331.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.6	4.749706	0.89753	.	.	ENSG00000116218	ENST00000367615	D	0.95554	-3.74	5.93	5.93	0.95920	Band 7/stomatin-like, conserved site (1);	0.185287	0.45867	D	0.000325	D	0.95510	0.8541	L	0.54323	1.7	0.80722	D	1	D	0.57899	0.981	P	0.54210	0.745	D	0.94623	0.7815	10	0.48119	T	0.1	-19.6119	13.197	0.59745	0.0:0.9238:0.0:0.0762	.	242	Q9NP85	PODO_HUMAN	T	242	ENSP00000356587:A242T	ENSP00000356587:A242T	A	-	1	0	NPHS2	177792799	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.970000	0.40520	2.826000	0.97356	0.655000	0.94253	GCC		0.368	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			3	48	0	0	0	1	0	3	48					T	179526176	C	T	179526176	3	4	498	1	0	0	0	0	1	0	0	0	10583	768	27	1	443	1	NPHS2	1	179526176	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	27250366	179526176	69724445	6	40022											
IL1RL2	8808	broad.mit.edu	37	chr2	102851427	102851427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcattgtggtccccgaatcGctgggctttggcctgttgaa	13	10	1	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:102851427G>A	ENST00000264257.2	+	11	1494	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000441515.2_Silent_p.S338S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	456	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCCCGAATCGCTGGGCTTTG	0.493																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1366-1368)tcG>tcA		interleukin 1 receptor-like 2							102	101	101					2																	102851427		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102851427G>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1368G>A	2.37:g.102851427G>A						IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000441515.2_Silent_p.S338S|IL1RL2_ENST00000481806.1_3'UTR	p.S456S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			11	1494	+			456			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.1368G>A	CCDS2056.1																																																																																				0.493	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		4	58	0	0	0	1	0	4	58					A	102851427	G	A	102851427	2	1	498	1	0	0	0	0	0	0	0	1	7664	1074	38	1		1	IL1RL2	2	102851427	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		102851427	140347946	7	40023											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	49	0	0	0	1	0	28	49					T	209113112	C	T	209113112	3	4	498	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	106261685	209113112	34086261	8	40024											
UGT1A10	54575	broad.mit.edu	37	chr2	234545184	234545184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatggctcgcgcagggTggaccagccccgttccttta	11	15	1	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:234545184T>G	ENST00000344644.5	+	1	85	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	6				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TCGCGCAGGGTGGACCAGCCC	0.567																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(16-18)Tgg>Ggg									77	76	77					2																	234545184		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545184T>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.16T>G	2.37:g.234545184T>G	ENSP00000343838:p.Trp6Gly					UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G|UGT1A8_ENST00000373450.4_Intron	p.W6G	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	85	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.16T>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	T	7.428	0.638121	0.14386	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59364	0.27;0.33	3.61	-2.18	0.07037	.	.	.	.	.	T	0.44891	0.1315	L	0.56769	1.78	0.09310	N	1	B;B	0.21309	0.054;0.031	B;B	0.18263	0.021;0.021	T	0.48445	-0.9035	9	0.87932	D	0	.	0.6662	0.00851	0.1802:0.2908:0.1564:0.3726	.	6;6	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	G	6	ENSP00000343838:W6G;ENSP00000362544:W6G	ENSP00000343838:W6G	W	+	1	0	UGT1A10	234209923	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.660000	0.05317	-0.210000	0.10140	-0.420000	0.06012	TGG		0.567	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		8	55	0	0	0	1	0	8	55					G	234545184	T	G	234545184	3	3	498	1	0	0	0	0	1	0	0	0	16942	1696	59	5	18	5	UGT1A10	2	234545184	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	25432072	234545184	8654189	9	40025											
AGAP1	116987	broad.mit.edu	37	chr2	236659029	236659029	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgctaacccgagggtcatCgatgacgccagggcgaggaa	14	11	2	1	rs576969179		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:236659029C>T	ENST00000304032.8	+	6	1150	c.570C>T	c.(568-570)atC>atT	p.I190I	AGAP1_ENST00000409457.1_Silent_p.I190I|AGAP1_ENST00000409538.1_Silent_p.I455I|AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000336665.5_Silent_p.I190I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	190	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGAGGGTCATCGATGACGCCA	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20471	0.0		0.0	False		,,,				2504	0.0					ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1363-1365)atC>atT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							261	212	229					2																	236659029		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659029C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.570C>T	2.37:g.236659029C>T						AGAP1_ENST00000304032.7_Silent_p.I190I|AGAP1_ENST00000336665.5_Silent_p.I190I|AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000409457.1_Silent_p.I190I	p.I455I			Q9UPQ3	AGAP1_HUMAN			6	1861	+			190			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.1365C>T	CCDS33408.1																																																																																				0.522	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		16	103	0	0	0	1	0	16	103					T	236659029	C	T	236659029	2	4	498	1	0	0	0	0	0	0	0	1	366	874	31	1		1	AGAP1	2	236659029	Silent	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	2113845	236659029	6540344	10	40026											
PCDH10	57575	broad.mit.edu	37	chr4	134072866	134072866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaactctgagaacggctActtgtacgccctgcgctcct	8	14	2	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr4:134072866A>G	ENST00000264360.5	+	1	2397	c.1571A>G	c.(1570-1572)tAc>tGc	p.Y524C	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	524	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)	p.Y524C(1)		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)		GAGAACGGCTACTTGTACGCC	0.587																																						ENST00000264360.4																			1	Substitution - Missense(1)	p.Y524C(1)	lung(1)	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						c.(1570-1572)tAc>tGc		protocadherin 10							68	72	70					4																	134072866		2201	4294	6495	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072866A>G	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.1571A>G	4.37:g.134072866A>G	ENSP00000264360:p.Tyr524Cys						p.Y524C	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2397	+			524			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1571A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276061	0.23307	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001441	T	0.58708	0.2141	L	0.58101	1.795	0.54753	D	0.999986	D;P	0.65815	0.995;0.711	D;B	0.65773	0.938;0.276	T	0.57676	-0.7770	10	0.39692	T	0.17	.	8.9117	0.35557	0.8332:0.0:0.0:0.1668	.	524;524	Q9P2E7;Q96SF0	PCD10_HUMAN;.	C	524	ENSP00000264360:Y524C	ENSP00000264360:Y524C	Y	+	2	0	PCDH10	134292316	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.889000	0.54706	0.533000	0.62120	TAC		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	80	0	0	0	1	0	6	80					G	134072866	A	G	134072866	3	3	498	1	0	0	0	0	1	0	0	0	11507	391	14	3	1573	3	PCDH10	4	134072866	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08		134072866	57081410	11	40027											
SIRT5	23408	broad.mit.edu	37	chr6	13612077	13612077	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaagcccttgcctgtcatGaaaatgaaactgtttcttaa	7	9	2	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:13612077G>T	ENST00000606117.1	+	10	1209	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287*|RP1-223E5.4_ENST00000566170.1_RNA|SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGCCTGTCATGAAAATGAAAC	0.433																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(913-915)Gaa>Taa		sirtuin 5	Suramin(DB04786)						259	260	260					6																	13612077		2203	4300	6503	SO:0001587	stop_gained	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13612077G>T	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.913G>T	6.37:g.13612077G>T	ENSP00000476228:p.Glu305*					SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*|SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287*	p.E305*	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		10	1209	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	305		E -> G (in dbSNP:rs34162626).	Deacetylase sirtuin-type.			Nonsense_Mutation	SNP	ENST00000606117.1	37	c.913G>T	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761780	0.96906	.	.	ENSG00000124523	ENST00000359782;ENST00000397350;ENST00000379250	.	.	.	5.5	5.5	0.81552	.	0.141022	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-25.2735	18.5243	0.90965	0.0:0.0:1.0:0.0	.	.	.	.	X	287;197;305	.	ENSP00000352830:E287X	E	+	1	0	SIRT5	13720056	1.000000	0.71417	0.961000	0.40146	0.660000	0.38997	3.290000	0.51755	2.729000	0.93468	0.650000	0.86243	GAA		0.433	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			18	227	1	0	4.35082e-09	1	4.65436e-09	18	227					T	13612077	G	T	13612077	4	4	498	1	0	0	0	0	0	1	0	0	14341	1291	45	4	990	4	SIRT5	6	13612077	Nonsense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		13612077	157502990	12	40028											
COL12A1	1303	broad.mit.edu	37	chr6	75898204	75898204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacatggttcagtgaagGtgtggaggcaatttgtttga	14	3	1	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:75898204G>T	ENST00000322507.8	-	8	1180	c.871C>A	c.(871-873)Cct>Act	p.P291T	COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	291	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						TTCAGTGAAGGTGTGGAGGCA	0.403																																						ENST00000322507.8																			0				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						c.(871-873)Cct>Act		collagen, type XII, alpha 1							169	153	158					6																	75898204		1944	4135	6079	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898204G>T	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.871C>A	6.37:g.75898204G>T	ENSP00000325146:p.Pro291Thr					COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T	p.P291T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			8	1180	-			291			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.871C>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245141	0.79912	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.79940	-1.32;-1.32;-1.32	6.06	6.06	0.98353	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.89959	0.6866	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89741	0.3933	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	291	Q99715	COCA1_HUMAN	T	291	ENSP00000325146:P291T;ENSP00000412864:P291T;ENSP00000421216:P291T	ENSP00000325146:P291T	P	-	1	0	COL12A1	75954924	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.471000	0.97696	2.871000	0.98454	0.655000	0.94253	CCT		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	59	1	0	3.27435e-08	1	3.42319e-08	15	59					T	75898204	G	T	75898204	3	4	498	1	0	0	0	0	1	0	0	0	3669	1261	44	4	8556	4	COL12A1	6	75898204	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	62286127	75898204	95216863	13	40029											
SLC4A2	6522	broad.mit.edu	37	chr7	150767818	150767818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccacgcccctaggctgCgtggagttcctctcccgccc	11	19	1	0	rs200557582	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr7:150767818C>T	ENST00000485713.1	+	12	2609	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C	SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000461735.1_Silent_p.C509C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000310317.5_Silent_p.C441C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	523					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTAGGCTGCGTGGAGTTCC	0.667													C|||	5	0.000998403	0.0	0.0	5008	,	,		16933	0.0		0.0	False		,,,				2504	0.0051					ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1567-1569)tgC>tgT		solute carrier family 4 (anion exchanger), member 2							78	72	74					7																	150767818		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767818C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1569C>T	7.37:g.150767818C>T						SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000461735.1_Silent_p.C509C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000310317.5_Silent_p.C441C	p.C523C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	2609	+			523					B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.1569C>T	CCDS5917.1																																																																																				0.667	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		10	16	0	0	0	1	0	10	16					T	150767818	C	T	150767818	2	4	498	1	0	0	0	0	0	0	0	1	14654	776	27	1		1	SLC4A2	7	150767818	Silent	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		150767818	8370845	14	40030											
RORB	6096	broad.mit.edu	37	chr9	77280504	77280504	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaatgcaaatgttcaaAgccttaggtaagtttccctt	10	7	1	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:77280504A>G	ENST00000396204.2	+	7	1026	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	RORB_ENST00000376896.3_Silent_p.K331K			Q92753	RORB_HUMAN	RAR-related orphan receptor B	342	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AAATGTTCAAAGCCTTAGGTA	0.378																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(991-993)aaA>aaG		RAR-related orphan receptor B							130	110	117					9																	77280504		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77280504A>G	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1026A>G	9.37:g.77280504A>G						RORB_ENST00000396204.2_Silent_p.K342K	p.K331K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			7	1605	+			342			Ligand-binding (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.993A>G																																																																																					0.378	RORB-201	KNOWN	basic	protein_coding	protein_coding				3	31	0	0	0	1	0	3	31					G	77280504	A	G	77280504	2	3	498	1	0	0	0	0	0	0	0	1	13529	69	3	3		3	RORB	9	77280504	Silent	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08		77280504	63932927	15	40031											
FAM75C1	441452	broad.mit.edu	37	chr9	90535974	90535974	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaacactggagtagcTtgccctgcgtcgcagaataa	11	9	0	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:90535974T>C	ENST00000602681.1	+	0	1878							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGGAGTAGCTTGCCCTGCGT	0.517																																						ENST00000602681.1																			0																				16	14	15					9																	90535974		692	1591	2283			0							g.chr9:90535974T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535974T>C														0	1878	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		39	155	0	0	0	1	0	39	155					C	90535974	T	C	90535974	1	2	498	0	1	0	0	0	0	0	0	0	5623	1596	56	3		3	FAM75C1	9	90535974	RNA	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	13255470	90535974	50677457	16	40032											
ARHGAP12	94134	broad.mit.edu	37	chr10	32150341	32150341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgatcccctggattTtggaaatctcctttgctgat	7	11	2	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr10:32150341T>C	ENST00000344936.2	-	4	1164	c.930A>G	c.(928-930)caA>caG	p.Q310Q	ARHGAP12_ENST00000311380.4_Silent_p.Q310Q|ARHGAP12_ENST00000396144.4_Silent_p.Q310Q|ARHGAP12_ENST00000375250.5_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	310					morphogenesis of an epithelial sheet (GO:0002011)|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(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCCCTGGATTTTGGAAATCTC	0.408																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(928-930)caA>caG		Rho GTPase activating protein 12							104	93	97					10																	32150341		2203	4300	6503	SO:0001819	synonymous_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32150341T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.930A>G	10.37:g.32150341T>C						ARHGAP12_ENST00000396144.4_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q|ARHGAP12_ENST00000344936.2_Silent_p.Q310Q|ARHGAP12_ENST00000311380.4_Silent_p.Q310Q	p.Q310Q	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			4	1171	-		Prostate(175;0.0199)	310					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	c.930A>G	CCDS7170.1																																																																																				0.408	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			14	53	0	0	0	1	0	14	53					C	32150341	T	C	32150341	2	2	498	1	0	0	0	0	0	0	0	1	865	1838	64	3		3	ARHGAP12	10	32150341	Silent	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08		32150341	103384406	17	40033											
OR52A5	390054	broad.mit.edu	37	chr11	5153260	5153260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaggattgcaaaggcaaCaaataggccatatatcttgt	8	9	1	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:5153260C>T	ENST00000307388.1	-	1	612	c.613G>A	c.(613-615)Gtt>Att	p.V205I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	205					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(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAAAGGCAACAAATAGGCCA	0.423																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(613-615)Gtt>Att		olfactory receptor, family 52, subfamily A, member 5							108	103	105					11																	5153260		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153260C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.613G>A	11.37:g.5153260C>T	ENSP00000303469:p.Val205Ile						p.V205I	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	612	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	205						Missense_Mutation	SNP	ENST00000307388.1	37	c.613G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	7.616	0.675801	0.14841	.	.	ENSG00000171944	ENST00000307388	T	0.00169	8.63	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.326881	0.22064	N	0.065134	T	0.00271	0.0008	M	0.62266	1.93	0.24800	N	0.992709	B	0.23540	0.087	B	0.33799	0.17	T	0.23261	-1.0193	10	0.48119	T	0.1	.	12.5409	0.56169	0.0:0.9189:0.0:0.0811	.	205	Q9H2C5	O52A5_HUMAN	I	205	ENSP00000303469:V205I	ENSP00000303469:V205I	V	-	1	0	OR52A5	5109836	0.000000	0.05858	1.000000	0.80357	0.032000	0.12392	-0.505000	0.06367	1.368000	0.46115	0.563000	0.77884	GTT		0.423	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		38	64	0	0	0	1	0	38	64					T	5153260	C	T	5153260	3	4	498	1	0	0	0	0	1	0	0	0	11110	478	17	2	340	2	OR52A5	11	5153260	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		5153260	129853256	18	40034											
LRP5	4041	broad.mit.edu	37	chr11	68204389	68204389	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccagttccggtgtgcgAgcggccagtgtgtcctcatc	12	14	1	0	rs572540297		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:68204389A>G	ENST00000294304.7	+	19	4139	c.4033A>G	c.(4033-4035)Agc>Ggc	p.S1345G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1345	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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						CCGGTGTGCGAGCGGCCAGTG	0.642																																						ENST00000294304.7																			0				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						c.(4033-4035)Agc>Ggc		low density lipoprotein receptor-related protein 5							158	120	133					11																	68204389		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68204389A>G	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.4033A>G	11.37:g.68204389A>G	ENSP00000294304:p.Ser1345Gly						p.S1345G	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			19	4139	+			1345			LDL-receptor class A 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4033A>G	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530892	0.64972	.	.	ENSG00000162337	ENST00000294304	D	0.95885	-3.84	4.37	4.37	0.52481	.	0.100524	0.41294	U	0.000905	D	0.95608	0.8572	M	0.80508	2.5	0.41814	D	0.989987	B;B	0.33549	0.417;0.417	B;B	0.39935	0.314;0.314	D	0.96232	0.9169	10	0.66056	D	0.02	.	14.1236	0.65205	1.0:0.0:0.0:0.0	.	1345;1345	Q9UES7;O75197	.;LRP5_HUMAN	G	1345	ENSP00000294304:S1345G	ENSP00000294304:S1345G	S	+	1	0	LRP5	67960965	0.997000	0.39634	1.000000	0.80357	0.884000	0.51177	4.850000	0.62889	1.987000	0.57996	0.519000	0.50382	AGC		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		25	46	0	0	0	1	0	25	46					G	68204389	A	G	68204389	3	3	498	1	0	0	0	0	1	0	0	0	8960	304	11	3	4107	3	LRP5	11	68204389	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08	63051129	68204389	66802127	19	40035											
PHB2	11331	broad.mit.edu	37	chr12	7077605	7077605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgatcagctgtgaggcaTtgaacttggccaccacactc	12	11	1	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:7077605T>C	ENST00000535923.1	-	4	727	c.446A>G	c.(445-447)aAt>aGt	p.N149S	PHB2_ENST00000440277.1_Missense_Mutation_p.N149S|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CTGTGAGGCATTGAACTTGGC	0.572																																						ENST00000535923.1																			0				ovary(2)|pancreas(1)	3						c.(445-447)aAt>aGt		prohibitin 2							81	84	83					12																	7077605		2134	4242	6376	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077605T>C	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.446A>G	12.37:g.7077605T>C	ENSP00000441875:p.Asn149Ser					PHB2_ENST00000440277.1_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|PHB2_ENST00000399433.2_Missense_Mutation_p.N149S	p.N149S	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN			4	727	-			149						Missense_Mutation	SNP	ENST00000535923.1	37	c.446A>G	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197009	0.79015	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.31	4.17	0.49024	.	0.000000	0.85682	U	0.000000	D	0.96728	0.8932	M	0.88105	2.93	0.50171	D	0.999854	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.982	D	0.96595	0.9440	10	0.87932	D	0	-11.7337	11.2263	0.48886	0.0:0.0721:0.0:0.9279	.	149;149;149	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	S	149;149;149;149;185;160	ENSP00000441875:N149S;ENSP00000440317:N149S;ENSP00000382362:N149S;ENSP00000412856:N149S;ENSP00000441662:N185S;ENSP00000439029:N160S	ENSP00000382362:N149S	N	-	2	0	PHB2	6947866	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.997000	0.88414	0.966000	0.38159	-0.250000	0.11733	AAT		0.572	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		4	13	0	0	0	1	0	4	13					C	7077605	T	C	7077605	3	2	498	1	0	0	0	0	1	0	0	0	11815	1493	52	3	477	3	PHB2	12	7077605	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08		7077605	126774290	20	40036											
DDX23	9416	broad.mit.edu	37	chr12	49227280	49227280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagcacatcaatcaaaCgcccaggggtagcaatcaca	7	14	4	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:49227280C>T	ENST00000308025.3	-	13	1662	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	528	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						ATCAATCAAACGCCCAGGGGT	0.498																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1582-1584)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							93	97	96					12																	49227280		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49227280C>T	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.1583G>A	12.37:g.49227280C>T	ENSP00000310723:p.Arg528His						p.R528H	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			13	1662	-			528			Helicase ATP-binding.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1583G>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274943	0.95459	.	.	ENSG00000174243	ENST00000308025	T	0.19938	2.11	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	H	0.98612	4.28	0.80722	D	1	P	0.45672	0.864	P	0.47102	0.537	T	0.73017	-0.4115	10	0.87932	D	0	-7.3623	19.4154	0.94694	0.0:1.0:0.0:0.0	.	528	Q9BUQ8	DDX23_HUMAN	H	528	ENSP00000310723:R528H	ENSP00000310723:R528H	R	-	2	0	DDX23	47513547	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.746000	0.85057	2.884000	0.98904	0.655000	0.94253	CGT		0.498	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		6	111	0	0	0	1	0	6	111					T	49227280	C	T	49227280	3	4	498	1	0	0	0	0	1	0	0	0	4350	536	19	1	899	1	DDX23	12	49227280	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	42149675	49227280	84624615	21	40037											
KRT84	3890	broad.mit.edu	37	chr12	52777396	52777396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgaagccctctaggaCatcctgcaggtggttcctct	9	13	3	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:52777396C>T	ENST00000257951.3	-	2	799	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCTCTAGGACATCCTGCAGG	0.582																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(733-735)Gtc>Atc		keratin 84							59	56	57					12																	52777396		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52777396C>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.733G>A	12.37:g.52777396C>T	ENSP00000257951:p.Val245Ile					RP3-416H24.4_ENST00000547174.1_RNA	p.V245I	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	799	-	all_hematologic(5;0.12)		245			Coil 1B.|Rod.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.733G>A	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188046	0.38609	.	.	ENSG00000161849	ENST00000257951	T	0.75367	-0.93	5.22	1.35	0.21983	Filament (1);	0.650789	0.13587	N	0.376936	T	0.67277	0.2876	M	0.66506	2.035	0.22096	N	0.999366	B	0.16166	0.016	B	0.14578	0.011	T	0.56860	-0.7909	10	0.41790	T	0.15	.	5.4609	0.16615	0.0:0.4037:0.1799:0.4164	.	245	Q9NSB2	KRT84_HUMAN	I	245	ENSP00000257951:V245I	ENSP00000257951:V245I	V	-	1	0	KRT84	51063663	0.013000	0.17824	0.681000	0.30009	0.961000	0.63080	0.097000	0.15168	0.152000	0.19188	0.585000	0.79938	GTC		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		23	34	0	0	0	1	0	23	34					T	52777396	C	T	52777396	3	4	498	1	0	0	0	0	1	0	0	0	8498	478	17	2	1101	2	KRT84	12	52777396	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	3550116	52777396	81074499	22	40038											
SDCCAG1	9147	broad.mit.edu	37	chr14	50262540	50262540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcattggctgcacagccGcaacatttttgcttgtgttc	9	10	1	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr14:50262540G>A	ENST00000298310.5	-	26	3037	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	NEMF_ENST00000546046.1_Missense_Mutation_p.A842V|NEMF_ENST00000545773.1_Missense_Mutation_p.A821V|NEMF_ENST00000382135.2_Missense_Mutation_p.A63V|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	863					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						CTGCACAGCCGCAACATTTTT	0.368																																						ENST00000298310.5																			0				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						c.(2587-2589)gCg>gTg		nuclear export mediator factor							167	153	158					14																	50262540		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50262540G>A	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.2588C>T	14.37:g.50262540G>A	ENSP00000298310:p.Ala863Val					NEMF_ENST00000546046.1_Missense_Mutation_p.A842V|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.A63V|NEMF_ENST00000545773.1_Missense_Mutation_p.A821V	p.A863V			O60524	NEMF_HUMAN			26	3037	-			863					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2588C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662968	0.14710	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.45668	0.89;0.9;0.9;0.9	5.69	4.79	0.61399	.	0.474468	0.24105	N	0.041509	T	0.35158	0.0922	L	0.52573	1.65	0.09310	N	1	B;B;B;B;B	0.31680	0.044;0.018;0.023;0.056;0.335	B;B;B;B;B	0.25614	0.021;0.014;0.01;0.009;0.062	T	0.20042	-1.0287	10	0.28530	T	0.3	0.1749	13.8493	0.63487	0.0762:0.0:0.9238:0.0	.	842;838;821;863;63	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	V	863;821;63;842;635;821	ENSP00000298310:A863V;ENSP00000438309:A821V;ENSP00000441016:A842V;ENSP00000452540:A821V	ENSP00000298310:A863V	A	-	2	0	NEMF	49332290	0.012000	0.17670	0.040000	0.18447	0.021000	0.10359	1.793000	0.38764	2.691000	0.91804	0.655000	0.94253	GCG		0.368	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		3	57	0	0	0	1	0	3	57					A	50262540	G	A	50262540	3	1	498	1	0	0	0	0	1	0	0	0	13957	1087	38	1	674	1	SDCCAG1	14	50262540	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		50262540	57087000	23	40039											
MAP1A	4130	broad.mit.edu	37	chr15	43817305	43817305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagacctccctggatGtctcttctaagcagctctct	9	13	3	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:43817305G>A	ENST00000300231.5	+	4	4084	c.3634G>A	c.(3634-3636)Gtc>Atc	p.V1212I	MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I|MAP1A_ENST00000382031.1_Missense_Mutation_p.V1450I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1212					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)	CTCCCTGGATGTCTCTTCTAA	0.527																																						ENST00000382031.1																			0				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						c.(4348-4350)Gtc>Atc		microtubule-associated protein 1A	Estramustine(DB01196)						87	90	89					15																	43817305		1934	4128	6062	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817305G>A	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.3634G>A	15.37:g.43817305G>A	ENSP00000300231:p.Val1212Ile					MAP1A_ENST00000300231.5_Missense_Mutation_p.V1212I|MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I	p.V1450I			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4379	+		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)	1212					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4348G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.115	-1.132930	0.01756	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01209	5.17;5.17;5.17	5.11	2.8	0.32819	.	.	.	.	.	T	0.00384	0.0012	N	0.00500	-1.43	0.19775	N	0.999953	B	0.02656	0.0	B	0.04013	0.001	T	0.44802	-0.9304	9	0.02654	T	1	-4.8221	3.8443	0.08928	0.6169:0.0:0.2288:0.1543	.	1212	P78559	MAP1A_HUMAN	I	1450;1212;1212	ENSP00000371462:V1450I;ENSP00000382380:V1212I;ENSP00000300231:V1212I	ENSP00000300231:V1212I	V	+	1	0	MAP1A	41604597	0.935000	0.31712	0.999000	0.59377	0.032000	0.12392	0.080000	0.14802	0.425000	0.26087	-1.087000	0.02190	GTC		0.527	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		11	45	0	0	0	1	0	11	45					A	43817305	G	A	43817305	3	1	498	1	0	0	0	0	1	0	0	0	9227	1377	48	2	3636	2	MAP1A	15	43817305	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		43817305	58714087	24	40040											
TMC3	342125	broad.mit.edu	37	chr15	81627158	81627158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctggggcatggactgtgCgactgtctctatcctgccac	12	13	2	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:81627158C>T	ENST00000359440.5	-	21	2497	c.2362G>A	c.(2362-2364)Gca>Aca	p.A788T	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A789T|RP11-761I4.3_ENST00000560851.1_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						ATGGACTGTGCGACTGTCTCT	0.607																																						ENST00000558726.1																			0				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						c.(2365-2367)Gca>Aca		transmembrane channel-like 3							107	106	106					15																	81627158		2061	4208	6269	SO:0001583	missense	342125					integral to membrane		g.chr15:81627158C>T	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.2362G>A	15.37:g.81627158C>T	ENSP00000352413:p.Ala788Thr					RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A788T|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.A789T			Q7Z5M5	TMC3_HUMAN			21	2500	-			788						Missense_Mutation	SNP	ENST00000359440.5	37	c.2365G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	6.726	0.502660	0.12822	.	.	ENSG00000188869	ENST00000359440	T	0.62105	0.05	4.63	-9.26	0.00662	.	0.813116	0.09866	N	0.745582	T	0.31389	0.0795	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.18276	T	0.48	-0.5249	10.3078	0.43691	0.1709:0.662:0.0:0.1671	.	788	Q7Z5M5	TMC3_HUMAN	T	788	ENSP00000352413:A788T	ENSP00000352413:A788T	A	-	1	0	TMC3	79414213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.219000	0.09228	-1.584000	0.01636	-0.808000	0.03180	GCA		0.607	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		10	41	0	0	0	1	0	10	41					T	81627158	C	T	81627158	3	4	498	1	0	0	0	0	1	0	0	0	15983	768	27	1	948	1	TMC3	15	81627158	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	37809853	81627158	20904234	25	40041											
TAOK2	9344	broad.mit.edu	37	chr16	29999002	29999002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggccccggcggcgtaatCcccgcaccacccaacaccca	9	21	0	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:29999002C>T	ENST00000308893.4	+	16	4452	c.3409C>T	c.(3409-3411)Ccc>Tcc	p.P1137S	TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					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						GCGGCGTAATCCCCGCACCAC	0.652																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3409-3411)Ccc>Tcc		TAO kinase 2							61	64	63					16																	29999002		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999002C>T	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.3409C>T	16.37:g.29999002C>T	ENSP00000310094:p.Pro1137Ser					TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S|TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S	p.P1137S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4452	+			1137					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3409C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	2.971	-0.212424	0.06140	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.72725	-0.61;-0.68	5.28	0.454	0.16644	.	1.294460	0.05094	N	0.485782	T	0.49660	0.1570	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.25641	-1.0126	9	.	.	.	.	3.8005	0.08757	0.1505:0.4634:0.2926:0.0935	.	1328;964;1137	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	S	1137;1024	ENSP00000310094:P1137S;ENSP00000440336:P1024S	.	P	+	1	0	TAOK2	29906503	0.008000	0.16893	0.130000	0.21974	0.142000	0.21351	-0.041000	0.12084	0.153000	0.19213	-1.121000	0.02013	CCC		0.652	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		22	138	0	0	0	1	0	22	138					T	29999002	C	T	29999002	3	4	498	1	0	0	0	0	1	0	0	0	15545	855	30	2	3467	2	TAOK2	16	29999002	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		29999002	60355751	26	40042											
GLG1	2734	broad.mit.edu	37	chr16	74487225	74487225	+	Frame_Shift_Del	DEL	G	G	-													gatcagagaagccatctgctGgggccacctagaatgacaca							TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74487225delG	ENST00000422840.2	-	26	3379	c.3380delC	c.(3379-3381)ccafs	p.P1127fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1127					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCCATCTGCTGGGGCCACCTA	0.468																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(3379-3381)cafs		golgi glycoprotein 1							83	71	75					16																	74487225		2198	4300	6498	SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74487225delG		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3380delC	16.37:g.74487225delG	ENSP00000405984:p.Pro1127fs					GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs|GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs	p.P1127fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			26	3379	-			1127					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	c.3380delC	CCDS45527.1																																																																																				0.468	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		12	23						12	23	---	---	---	---	-	74487225	G	-	74487225	7	5	498	1	0	1	0	1	0	0	0	0	6436	1348	47	0	243	0	GLG1	16	74487225	Frame_Shift_Del	DEL	G	TCGA-VM-A8CA-01A-11D-A36O-08	44488223	74487225	15867528	27	40043											
MLKL	197259	broad.mit.edu	37	chr16	74709277	74709277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacgggatatctccagtggCgatttcccagaggacgattc	11	10	1	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74709277C>T	ENST00000308807.7	-	9	1679	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MLKL_ENST00000306247.7_Silent_p.S187S	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						TCTCCAGTGGCGATTTCCCAG	0.493																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1216-1218)Gcc>Acc		mixed lineage kinase domain-like							109	104	106					16																	74709277		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74709277C>T	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.1216G>A	16.37:g.74709277C>T	ENSP00000308351:p.Ala406Thr					MLKL_ENST00000306247.7_Silent_p.S187S	p.A406T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			9	1679	-			406			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1216G>A	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467898	0.26335	.	.	ENSG00000168404	ENST00000308807	D	0.82803	-1.65	4.96	-0.926	0.10455	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.519194	0.20943	N	0.082892	T	0.81997	0.4941	.	.	.	0.09310	N	1	D	0.61697	0.99	P	0.52481	0.7	T	0.74592	-0.3614	9	0.52906	T	0.07	-0.5496	8.8987	0.35481	0.0:0.585:0.0:0.415	.	406	Q8NB16	MLKL_HUMAN	T	406	ENSP00000308351:A406T	ENSP00000308351:A406T	A	-	1	0	MLKL	73266778	0.036000	0.19791	0.014000	0.15608	0.246000	0.25737	0.124000	0.15728	-0.150000	0.11195	0.498000	0.49722	GCC		0.493	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		4	79	0	0	0	1	0	4	79					T	74709277	C	T	74709277	3	4	498	1	0	0	0	0	1	0	0	0	9619	768	27	1	242	1	MLKL	16	74709277	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	222052	74709277	15645476	28	40044											
POLR2A	5430	broad.mit.edu	37	chr17	7404927	7404927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgagaatcaggtgaaccGcattcttaacgatgcccgag	11	9	2	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr17:7404927G>A	ENST00000322644.6	+	14	2627	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	743					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)				CAGGTGAACCGCATTCTTAAC	0.522																																						ENST00000322644.6																			0				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						c.(2227-2229)cGc>cAc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							86	81	83					17																	7404927		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404927G>A			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.2228G>A	17.37:g.7404927G>A	ENSP00000314949:p.Arg743His						p.R743H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2627	+		Prostate(122;0.173)	743					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2228G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276591	0.95459	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68181	-0.31	6.17	6.17	0.99709	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.79011	2.435	0.80722	D	1	D	0.54047	0.964	P	0.45681	0.49	T	0.78026	-0.2365	10	0.87932	D	0	-10.8426	19.6509	0.95805	0.0:0.0:1.0:0.0	.	743	P24928	RPB1_HUMAN	H	699;743	ENSP00000314949:R743H	ENSP00000314949:R743H	R	+	2	0	SLC35G6	7345651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.941000	0.99782	0.655000	0.94253	CGC		0.522	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	70	0	0	0	1	0	3	70					A	7404927	G	A	7404927	3	1	498	1	0	0	0	0	1	0	0	0	12214	1087	38	1	2282	1	POLR2A	17	7404927	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		7404927	73790283	29	40045											
CD209	30835	broad.mit.edu	37	chr19	7809881	7809881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccacttctttgcaggcGgtgatggagtcgtgccagtt	13	12	1	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:7809881G>A	ENST00000315599.7	-	5	868	c.846C>T	c.(844-846)acC>acT	p.T282T	CD209_ENST00000394173.4_Silent_p.T121T|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000315591.8_Silent_p.T258T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000301357.8_Silent_p.T146T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	282	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGCAGGCGGTGATGGAGT	0.582																																						ENST00000315599.7																			1	Substitution - coding silent(1)	p.T282T(1)	large_intestine(1)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(844-846)acC>acT		CD209 molecule							89	84	86					19																	7809881		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809881G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.846C>T	19.37:g.7809881G>A						CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000315591.8_Silent_p.T258T|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000301357.8_Silent_p.T146T|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000394173.4_Silent_p.T121T	p.T282T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			5	868	-			282			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.846C>T	CCDS12186.1																																																																																				0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		3	47	0	0	0	1	0	3	47					A	7809881	G	A	7809881	2	1	498	1	0	0	0	0	0	0	0	1	2984	1103	39	1		1	CD209	19	7809881	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		7809881	51319102	30	40046											
JAK3	3718	broad.mit.edu	37	chr19	17941029	17941029	+	Splice_Site	DEL	T	T	-													ccatcatccgcaggaactccTggagccaaggaggagcgcat							TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:17941029delT	ENST00000527670.1	-	22	3126		c.e22-2		JAK3_ENST00000458235.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site			P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGGAACTCCTGGAGCCAAGG	0.701		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.e23-2		Janus kinase 3							7	7	7					19																	17941029		2157	4249	6406	SO:0001630	splice_region_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17941029delT	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3097-2A>-	19.37:g.17941029delT						JAK3_ENST00000527670.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site		NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			23	3196	-								Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	DEL	ENST00000527670.1	37		CCDS12366.1																																																																																				0.701	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	Intron	2	4						2	4	---	---	---	---	-	17941029	T	-	17941029	8	5	498	1	0	1	0	1	0	0	1	0	7939	1594	55	0	287	0	JAK3	19	17941029	Splice_Site	DEL	T	TCGA-VM-A8CA-01A-11D-A36O-08	10131148	17941029	41187954	31	40047											
ZNF614	80110	broad.mit.edu	37	chr19	52519679	52519679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttctcctgtgtgggagCgctgatgtacaatgagattg	12	6	1	2	rs115005123		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:52519679C>T	ENST00000270649.6	-	5	1716	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	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)			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)		TGTGTGGGAGCGCTGATGTAC	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23198	0.0		0.0	False		,,,				2504	0.0					ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cGc>cAc		zinc finger protein 614							156	144	148					19																	52519679		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519679C>T	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.1172G>A	19.37:g.52519679C>T	ENSP00000270649:p.Arg391His					ZNF614_ENST00000356322.6_Intron	p.R391H	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1716	-		all_neural(266;0.0505)	391					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1172G>A	CCDS12847.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.68	2.308434	0.40895	.	.	ENSG00000142556	ENST00000270649	T	0.25749	1.78	3.38	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48537	0.1505	M	0.88377	2.95	0.09310	N	1	D	0.76494	0.999	D	0.63703	0.917	T	0.31861	-0.9928	9	0.87932	D	0	.	5.2742	0.15641	0.0:0.6233:0.168:0.2086	.	391	Q8N883	ZN614_HUMAN	H	391	ENSP00000270649:R391H	ENSP00000270649:R391H	R	-	2	0	ZNF614	57211491	0.000000	0.05858	0.004000	0.12327	0.603000	0.37013	-1.621000	0.02044	0.147000	0.19030	0.563000	0.77884	CGC		0.443	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		43	100	0	0	0	1	0	43	100					T	52519679	C	T	52519679	3	4	498	1	0	0	0	0	1	0	0	0	18036	768	27	1	589	1	ZNF614	19	52519679	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	34578650	52519679	6609304	32	40048											
C20orf151	140893	broad.mit.edu	37	chr20	60987732	60987732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtggtggaccctgcccGtgctcctgggtgcagatgca	14	13	0	1	rs199665028		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr20:60987732G>A	ENST00000252998.1	-	13	1980	c.1824C>T	c.(1822-1824)caC>caT	p.H608H		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	608						extracellular space (GO:0005615)											GACCCTGCCCGTGCTCCTGGG	0.697																																						ENST00000252998.1																			0											c.(1822-1824)caC>caT		RBBP8 N-terminal like							62	63	63					20																	60987732		2202	4300	6502	SO:0001819	synonymous_variant	140893							g.chr20:60987732G>A	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"hypothetical protein LOC140893"		"chromosome 20 open reading frame 151"	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1824C>T	20.37:g.60987732G>A							p.H608H	NM_080833.2	NP_543023.2					13	1980	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	c.1824C>T	CCDS13498.1																																																																																				0.697	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		33	46	0	0	0	1	0	33	46					A	60987732	G	A	60987732	2	1	498	1	0	0	0	0	0	0	0	1	2091	1136	40	1		1	C20orf151	20	60987732	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		60987732	2037788	33	40049											
RNF160	26046	broad.mit.edu	37	chr21	30318165	30318165	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggagcacatgatgaagtcCcactcactctctgccaaagg	9	12	2	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr21:30318165C>T	ENST00000361371.5	-	21	3811	c.3732G>A	c.(3730-3732)tgG>tgA	p.W1244*	LTN1_ENST00000389194.2_Nonsense_Mutation_p.W1290*			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1244					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						TGATGAAGTCCCACTCACTCT	0.423																																						ENST00000361371.4																			0				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						c.(3730-3732)tgG>tgA		listerin E3 ubiquitin protein ligase 1							106	109	108					21																	30318165		2203	4300	6503	SO:0001587	stop_gained	26046						ligase activity|zinc ion binding	g.chr21:30318165C>T	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.3732G>A	21.37:g.30318165C>T	ENSP00000354977:p.Trp1244*					LTN1_ENST00000389194.2_Nonsense_Mutation_p.W1290*	p.W1244*	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			21	3882	-			1244					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Nonsense_Mutation	SNP	ENST00000361371.5	37	c.3732G>A		.	.	.	.	.	.	.	.	.	.	C	43	10.100404	0.99337	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0478	0.89338	0.0:1.0:0.0:0.0	.	.	.	.	X	1290;1244	.	ENSP00000354977:W1244X	W	-	3	0	LTN1	29240036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.850000	0.75420	2.492000	0.84095	0.591000	0.81541	TGG		0.423	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		14	32	0	0	0	1	0	14	32					T	30318165	C	T	30318165	4	4	498	1	0	0	0	0	0	1	0	0	13455	624	22	2	1608	2	RNF160	21	30318165	Nonsense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		30318165	17811730	34	40050											
SETD4	54093	broad.mit.edu	37	chr21	37412909	37412909	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacataacaacttaagggctGtgagtagcctccaagatggt	11	8	0	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr21:37412909G>T	ENST00000399215.1	-	8	2400	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|SETD4_ENST00000332131.4_Missense_Mutation_p.T343K|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	343				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CTTAAGGGCTGTGAGTAGCCT	0.388																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(1027-1029)aCa>aAa		SET domain containing 4							209	211	210					21																	37412909		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37412909G>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1028C>A	21.37:g.37412909G>T	ENSP00000382163:p.Thr343Lys					SETD4_ENST00000332131.4_Missense_Mutation_p.T343K|SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR	p.T343K			Q9NVD3	SETD4_HUMAN			8	2400	-			343	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.1028C>A	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095551	0.94197	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.18338	2.22;2.22;2.22	5.66	5.66	0.87406	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.14559	-1.0468	10	0.24483	T	0.36	-4.9159	19.7398	0.96223	0.0:0.0:1.0:0.0	.	319;343	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	K	343;319;343	ENSP00000382163:T343K;ENSP00000382161:T319K;ENSP00000329189:T343K	ENSP00000329189:T343K	T	-	2	0	SETD4	36334779	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	5.949000	0.70257	2.665000	0.90641	0.561000	0.74099	ACA		0.388	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		11	168	1	0	5.50884e-06	1	5.63126e-06	11	168					T	37412909	G	T	37412909	3	4	498	1	0	0	0	0	1	0	0	0	14133	1377	48	4	306	4	SETD4	21	37412909	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	7094744	37412909	10716986	35	40051											
APOBEC3F	200316	broad.mit.edu	37	chr22	39445579	39445579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaagaggggcgtcttccGaaaccaggtagcaccaaagt	13	10	1	1	rs374582155		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr22:39445579G>A	ENST00000308521.5	+	5	1073	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	239					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|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)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGCGTCTTCCGAAACCAGGTA	0.512																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(715-717)cGa>cAa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F		G	GLN/ARG	0,4406		0,0,2203	107	96	100		716	-3.5	0	22		100	1,8599		0,1,4299	no	missense	APOBEC3F	NM_145298.5	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	239/374	39445579	1,13005	2203	4300	6503	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39445579G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"Apolipoprotein B mRNA editing enzymes"	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.716G>A	22.37:g.39445579G>A	ENSP00000309749:p.Arg239Gln					APOBEC3G_ENST00000452957.2_Intron	p.R239Q	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			5	1073	+	Melanoma(58;0.04)		243					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.716G>A	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583147	0.28268	0.0	1.16E-4	ENSG00000128394	ENST00000308521	T	0.66995	-0.24	1.75	-3.5	0.04710	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.51500	0.1678	L	0.55743	1.74	0.09310	N	1	P	0.50272	0.933	B	0.41946	0.371	T	0.44065	-0.9352	9	0.27785	T	0.31	.	2.2709	0.04090	0.2545:0.0:0.2898:0.4557	.	239	Q8IUX4	ABC3F_HUMAN	Q	239	ENSP00000309749:R239Q	ENSP00000309749:R239Q	R	+	2	0	APOBEC3F	37775525	0.000000	0.05858	0.004000	0.12327	0.169000	0.22640	-1.609000	0.02066	-1.122000	0.02945	0.505000	0.49811	CGA		0.512	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		17	80	0	0	0	1	0	17	80					A	39445579	G	A	39445579	3	1	498	1	0	0	0	0	1	0	0	0	793	1058	37	1	873	1	APOBEC3F	22	39445579	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		39445579	11858987	36	40052											
FAM47A	158724	broad.mit.edu	37	chrX	34149054	34149054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttagttttcttcacccGggcctcacaacgatcccata	5	15	3	0			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chrX:34149054G>A	ENST00000346193.3	-	1	1393	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	448										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCTTCACCCGGGCCTCACAA	0.562																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1342-1344)Cgg>Tgg		family with sequence similarity 47, member A							43	46	45					X																	34149054		2064	4209	6273	SO:0001583	missense	158724							g.chrX:34149054G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1342C>T	X.37:g.34149054G>A	ENSP00000345029:p.Arg448Trp						p.R448W	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1393	-			448					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1342C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	13.97	2.394869	0.42512	.	.	ENSG00000185448	ENST00000346193	T	0.16597	2.33	0.866	-0.49	0.12049	.	.	.	.	.	T	0.27629	0.0679	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.11891	-1.0569	8	0.66056	D	0.02	.	.	.	.	.	448	Q5JRC9	FA47A_HUMAN	W	448	ENSP00000345029:R448W	ENSP00000345029:R448W	R	-	1	2	FAM47A	34058975	0.003000	0.15002	0.004000	0.12327	0.595000	0.36748	0.073000	0.14640	-0.200000	0.10300	0.287000	0.19450	CGG		0.562	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	23	0	0	0	1	0	17	23					A	34149054	G	A	34149054	3	1	498	1	0	0	0	0	1	0	0	0	5569	1115	39	1	1037	1	FAM47A	23	34149054	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		34149054	121121506	37	40053											
PADI1	29943	broad.mit.edu	37	chr1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttcatggtctacaacCgcacacgtgtgaaagagccc	10	12	3	2	rs142259163		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R56C(1)		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)	GGTCTACAACCGCACACGTGT	0.552																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			1	Substitution - Missense(1)	p.R56C(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(166-168)Cgc>Tgc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)		CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	130	120	123		166	1.9	0	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PADI1	NM_013358.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	56/664	17548858	2,13004	2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548858C>T	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.166C>T	1.37:g.17548858C>T	ENSP00000364620:p.Arg56Cys						p.R56C	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		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)	2	258	+		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)	56					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.166C>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	c	3.633	-0.075107	0.07184	2.27E-4	1.16E-4	ENSG00000142623	ENST00000375471	T	0.08282	3.11	3.87	1.94	0.25998	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.179400	0.36665	U	0.002463	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	0.999999	P	0.52316	0.952	B	0.43783	0.431	T	0.35425	-0.9789	10	0.36615	T	0.2	-4.1982	7.0036	0.24823	0.1981:0.6104:0.1915:0.0	.	56	Q9ULC6	PADI1_HUMAN	C	56	ENSP00000364620:R56C	ENSP00000364620:R56C	R	+	1	0	PADI1	17421445	0.008000	0.16893	0.001000	0.08648	0.059000	0.15707	0.129000	0.15830	0.242000	0.21303	-0.828000	0.03084	CGC		0.552	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	62	0	0	0	1	0	7	62					T	17548858	C	T	17548858	3	4	499	1	0	0	0	0	1	0	0	0	11377	652	23	1	172	1	PADI1	1	17548858	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		17548858	231701763	1	40054											
FUBP1	8880	broad.mit.edu	37	chr1	78425906	78425907	+	Frame_Shift_Del	DEL	TG	TG	-													tgctgctgccagtgtggataTgcatttccccatccctgggg					rs145571406		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:78425906_78425907delTG	ENST00000370768.2	-	16	1619_1620	c.1538_1539delCA	c.(1537-1539)gcafs	p.A513fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.A513fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	513	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTGTGGATATGCATTTCCCCA	0.431			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1537-1539)gfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78425906_78425907delTG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1538_1539delCA	1.37:g.78425906_78425907delTG	ENSP00000359804:p.Ala513fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.A513fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs	p.A513fs			Q96AE4	FUBP1_HUMAN			16	1625_1626	-			513			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1538_1539delCA	CCDS683.1																																																																																				0.431	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		23	8						23	8	---	---	---	---	-	78425907	TG	-	78425906	7	5	499	1	0	1	0	1	0	0	0	0	6092	1451	51	0	415	0	FUBP1	1	78425906	Frame_Shift_Del	DEL	TG	TCGA-VM-A8CB-01A-11D-A36O-08	60877048	78425906	170824715	2	40055											
TAF1B	9014	broad.mit.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A													aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg					rs528368939		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																						ENST00000263663.5																			1	Insertion - Frameshift(1)	p.K63fs*1(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(184-189)ctaaaafs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa																																				SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9989570_9989571insA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.LK62fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			3	374_375	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		62					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	ENST00000263663.5	37	c.186_187insA	CCDS33143.1																																																																																				0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		20	44						20	44	---	---	---	---	A	9989571	-	A	9989570	7	5	499	1	0	1	1	0	0	0	0	0	15517	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-VM-A8CB-01A-11D-A36O-08		9989570	233209803	3	40056											
RANBP2	5903	broad.mit.edu	37	chr2	109380084	109380084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacacaacacagccaactcCttttaaatttaactcaaatt	1	12	1	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:109380084C>A	ENST00000283195.6	+	20	3215	c.3089C>A	c.(3088-3090)cCt>cAt	p.P1030H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1030					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						CAGCCAACTCCTTTTAAATTT	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(3088-3090)cCt>cAt		RAN binding protein 2							112	112	112					2																	109380084		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380084C>A	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.3089C>A	2.37:g.109380084C>A	ENSP00000283195:p.Pro1030His						p.P1030H	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3215	+			1030					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3089C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208198	0.58343	.	.	ENSG00000153201	ENST00000283195	T	0.26957	1.7	5.69	4.82	0.62117	.	.	.	.	.	T	0.26231	0.0640	L	0.29908	0.895	0.36934	D	0.892022	P	0.51653	0.947	P	0.46796	0.527	T	0.23368	-1.0190	9	0.72032	D	0.01	-8.6063	14.6494	0.68786	0.0:0.9303:0.0:0.0697	.	1030	P49792	RBP2_HUMAN	H	1030	ENSP00000283195:P1030H	ENSP00000283195:P1030H	P	+	2	0	RANBP2	108746516	1.000000	0.71417	0.937000	0.37676	0.823000	0.46562	4.782000	0.62396	1.407000	0.46875	0.563000	0.77884	CCT		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	175	1	0	0.00909568	1	0.00909568	4	175					A	109380084	C	A	109380084	3	1	499	1	0	0	0	0	1	0	0	0	13028	681	24	4	3167	4	RANBP2	2	109380084	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	99390514	109380084	133819289	4	40057											
CXCR4	7852	broad.mit.edu	37	chr2	136873410	136873410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaattagcattttcttcacGgaaacagggttccttcatgg	9	8	3	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:136873410G>A	ENST00000241393.3	-	2	192	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	CXCR4_ENST00000409817.1_Missense_Mutation_p.R34C|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	30					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TTTTCTTCACGGAAACAGGGT	0.433																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(100-102)Cgt>Tgt		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						99	103	102					2																	136873410		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873410G>A	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	2561	protein-coding gene	gene with protein product		162643	"chemokine (C-X-C motif), receptor 4 (fusin)"			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.88C>T	2.37:g.136873410G>A	ENSP00000241393:p.Arg30Cys					CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R30C	p.R34C	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	403	-			30					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.100C>T	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786491	0.31593	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.36520	1.25;1.25	5.88	2.68	0.31781	CXC chemokine receptor, type 4, N-terminal (1);	0.720245	0.13568	N	0.378288	T	0.41811	0.1175	N	0.19112	0.55	0.20307	N	0.999916	D;D	0.71674	0.987;0.998	P;P	0.60682	0.878;0.76	T	0.41928	-0.9481	10	0.87932	D	0	.	14.4045	0.67073	0.0:0.0:0.4231:0.5769	.	30;34	P61073;P61073-2	CXCR4_HUMAN;.	C	34;30	ENSP00000386884:R34C;ENSP00000241393:R30C	ENSP00000241393:R30C	R	-	1	0	CXCR4	136589880	0.000000	0.05858	1.000000	0.80357	0.665000	0.39181	-0.979000	0.03774	0.653000	0.30826	0.655000	0.94253	CGT		0.433	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			56	40	0	0	0	1	0	56	40					A	136873410	G	A	136873410	3	1	499	1	0	0	0	0	1	0	0	0	4093	1116	39	1	974	1	CXCR4	2	136873410	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	27493326	136873410	106325963	5	40058											
ITGA4	3676	broad.mit.edu	37	chr2	182347308	182347308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatggcttctcagatctgcTcgtgggagcacccatgcaga	12	11	2	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:182347308T>C	ENST00000397033.2	+	9	1401	c.971T>C	c.(970-972)cTc>cCc	p.L324P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	324					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)	TCAGATCTGCTCGTGGGAGCA	0.512																																						ENST00000397033.2																			0				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						c.(970-972)cTc>cCc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						186	186	186					2																	182347308		2008	4182	6190	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347308T>C		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.971T>C	2.37:g.182347308T>C	ENSP00000380227:p.Leu324Pro						p.L324P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1401	+			324					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.971T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355811	0.82243	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.74737	-0.87;-0.87	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92356	0.5893	10	0.87932	D	0	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	324;324	E7EP60;P13612	.;ITA4_HUMAN	P	324	ENSP00000380227:L324P;ENSP00000233573:L324P	ENSP00000233573:L324P	L	+	2	0	ITGA4	182055553	1.000000	0.71417	0.203000	0.23512	0.933000	0.57130	7.841000	0.86834	2.207000	0.71202	0.528000	0.53228	CTC		0.512	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			11	206	0	0	0	1	0	11	206					C	182347308	T	C	182347308	3	2	499	1	0	0	0	0	1	0	0	0	7878	1551	54	3	1005	3	ITGA4	2	182347308	Missense_Mutation	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08	45473898	182347308	60852065	6	40059											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	55	0	0	0	1	0	33	55					T	209113112	C	T	209113112	3	4	499	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	26765804	209113112	34086261	7	40060											
MLPH	79083	broad.mit.edu	37	chr2	238419718	238419718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgccaaggtcatccggtCcctccacgggcggctgcagg	14	14	1	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:238419718C>T	ENST00000264605.3	+	4	713	c.419C>T	c.(418-420)tCc>tTc	p.S140F	MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.S140F|MLPH_ENST00000409373.1_Missense_Mutation_p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	140					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)		GTCATCCGGTCCCTCCACGGG	0.532																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(418-420)tCc>tTc		melanophilin							153	155	154					2																	238419718		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238419718C>T	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.419C>T	2.37:g.238419718C>T	ENSP00000264605:p.Ser140Phe					MLPH_ENST00000445024.2_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000409373.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F	p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		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)	4	713	+		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)	140					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.419C>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050680	0.75960	.	.	ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T	0.32272	1.46;1.73;1.72;1.59;1.5	5.13	4.24	0.50183	.	0.066253	0.64402	D	0.000007	T	0.62986	0.2473	M	0.91249	3.19	0.53005	D	0.999968	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;1.0;1.0;1.0;0.959	T	0.72004	-0.4421	9	.	.	.	-17.1958	13.9501	0.64111	0.1527:0.8472:0.0:0.0	.	140;140;140;140;140;140	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	F	140	ENSP00000386338:S140F;ENSP00000264605:S140F;ENSP00000414849:S140F;ENSP00000341845:S140F;ENSP00000386780:S140F	.	S	+	2	0	MLPH	238084457	0.999000	0.42202	0.994000	0.49952	0.683000	0.39861	4.318000	0.59190	1.113000	0.41760	0.563000	0.77884	TCC		0.532	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		31	208	0	0	0	1	0	31	208					T	238419718	C	T	238419718	3	4	499	1	0	0	0	0	1	0	0	0	9633	855	30	2	429	2	MLPH	2	238419718	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	29306606	238419718	4779655	8	40061											
SLC4A7	9497	broad.mit.edu	37	chr3	27427493	27427493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggtccatgagtttgcGcacaaacactaatgcaagaa	8	10	0	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:27427493G>A	ENST00000295736.5	-	23	3425	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1119					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1119C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATGAGTTTGCGCACAAACACT	0.328																																						ENST00000295736.5																			1	Substitution - Missense(1)	p.R1119C(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3355-3357)Cgc>Tgc		solute carrier family 4, sodium bicarbonate cotransporter, member 7							115	124	121					3																	27427493		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427493G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3355C>T	3.37:g.27427493G>A	ENSP00000295736:p.Arg1119Cys					SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C	p.R1119C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			23	3425	-			1119					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3355C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852845	0.91355	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.099081	0.64402	D	0.000001	D	0.91720	0.7382	M	0.77406	2.37	0.80722	D	1	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	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.983;0.996;0.993;0.996;0.999;0.992;0.996;0.983	D	0.91838	0.5481	10	0.87932	D	0	.	20.1467	0.98079	0.0:0.0:1.0:0.0	.	1115;1000;1111;1115;1128;669;995;1119;1000	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	670;1119;995;1128;1115;1000;1111;1000;1115;1004;669;1015	ENSP00000411031:R670C;ENSP00000295736:R1119C;ENSP00000416368:R995C;ENSP00000390394:R1128C;ENSP00000414797:R1115C;ENSP00000394252:R1000C;ENSP00000406605:R1111C;ENSP00000407382:R1000C;ENSP00000406804:R1115C;ENSP00000395336:R1004C;ENSP00000373429:R669C;ENSP00000388703:R1015C	ENSP00000295736:R1119C	R	-	1	0	SLC4A7	27402497	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	7.915000	0.87484	2.838000	0.97847	0.655000	0.94253	CGC		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	170	0	0	0	1	0	4	170					A	27427493	G	A	27427493	3	1	499	1	0	0	0	0	1	0	0	0	14658	1087	38	1	301	1	SLC4A7	3	27427493	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		27427493	170594937	9	40062											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133649	119133649	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccattctctagatagcaAacccacggttaaaagccagt	8	11	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:119133649A>G	ENST00000264245.4	+	12	3405	c.2873A>G	c.(2872-2874)aAa>aGa	p.K958R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	958					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						CTAGATAGCAAACCCACGGTT	0.567																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				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						c.(2872-2874)aAa>aGa		Rho GTPase activating protein 31							137	134	135					3																	119133649		1895	4129	6024	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133649A>G		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.2873A>G	3.37:g.119133649A>G	ENSP00000264245:p.Lys958Arg						p.K958R	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3405	+			958					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2873A>G	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486582	0.26686	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08807	3.05	4.74	4.74	0.60224	.	0.106927	0.41001	D	0.000970	T	0.09862	0.0242	L	0.32530	0.975	0.32409	N	0.550878	P	0.46987	0.888	P	0.44561	0.453	T	0.03981	-1.0987	10	0.87932	D	0	.	13.5597	0.61782	1.0:0.0:0.0:0.0	.	958	Q2M1Z3	RHG31_HUMAN	R	958	ENSP00000264245:K958R	ENSP00000264245:K958R	K	+	2	0	ARHGAP31	120616339	0.999000	0.42202	0.209000	0.23619	0.027000	0.11550	3.532000	0.53553	1.979000	0.57680	0.379000	0.24179	AAA		0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			88	120	0	0	0	1	0	88	120					G	119133649	A	G	119133649	3	3	499	1	0	0	0	0	1	0	0	0	880	14	1	3	2919	3	ARHGAP31	3	119133649	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	91706156	119133649	78888781	10	40063											
RSRC1	51319	broad.mit.edu	37	chr3	157920909	157920909	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catagtcgtagcagtgaaagGtccagtcacagaagaacgcg	12	9	1	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:157920909G>C	ENST00000295930.3	+	4	531	c.369G>C	c.(367-369)agG>agC	p.R123S	RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	123	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GCAGTGAAAGGTCCAGTCACA	0.433																																						ENST00000295930.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(367-369)agG>agC		arginine/serine-rich coiled-coil 1							109	109	109					3																	157920909		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157920909G>C	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 21"	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.369G>C	3.37:g.157920909G>C	ENSP00000295930:p.Arg123Ser					RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron	p.R123S	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	531	+			123			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.369G>C	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.51|16.51	3.142872|3.142872	0.57044|0.57044	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.04|5.04	-1.7|-1.7	0.08159|0.08159	.|.	0.056402|.	0.64402|.	D|.	0.000001|.	T|T	0.54631|0.54631	0.1870|0.1870	L|L	0.47716|0.47716	1.5|1.5	0.41937|0.41937	D|D	0.990591|0.990591	D|.	0.61080|.	0.989|.	D|.	0.72625|.	0.978|.	T|T	0.51888|0.51888	-0.8648|-0.8648	9|5	0.41790|.	T|.	0.15|.	.|.	10.9786|10.9786	0.47480|0.47480	0.662:0.0:0.338:0.0|0.662:0.0:0.338:0.0	.|.	123|.	Q96IZ7|.	RSRC1_HUMAN|.	S|L	123|17	.|.	ENSP00000295930:R123S|.	R|V	+|+	3|1	2|0	RSRC1|RSRC1	159403603|159403603	0.298000|0.298000	0.24417|0.24417	0.981000|0.981000	0.43875|0.43875	0.943000|0.943000	0.58893|0.58893	-0.506000|-0.506000	0.06359|0.06359	-0.163000|-0.163000	0.10946|0.10946	0.591000|0.591000	0.81541|0.81541	AGG|GTC		0.433	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		8	18	0	0	0	1	0	8	18					C	157920909	G	C	157920909	3	2	499	1	0	0	0	0	1	0	0	0	13714	1252	44	4	379	4	RSRC1	3	157920909	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	38787260	157920909	40101521	11	40064											
GPR125	166647	broad.mit.edu	37	chr4	22390464	22390464	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatttgcgctcagggtgtcTtttcaactgaataaatatgc	8	7	3	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr4:22390464T>C	ENST00000334304.5	-	19	3099	c.2830A>G	c.(2830-2832)Aga>Gga	p.R944G	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	944					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCAGGGTGTCTTTTCAACTGA	0.458																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2830-2832)Aga>Gga		G protein-coupled receptor 125							72	76	74					4																	22390464		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390464T>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2830A>G	4.37:g.22390464T>C	ENSP00000334952:p.Arg944Gly					GPR125_ENST00000282943.5_5'UTR	p.R944G	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3099	-		Breast(46;0.198)	944					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2830A>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601453	0.46423	.	.	ENSG00000152990	ENST00000334304	T	0.46063	0.88	5.84	4.81	0.61882	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.49640	1.575	0.80722	D	1	B;D	0.63880	0.085;0.993	B;P	0.60609	0.054;0.877	T	0.42292	-0.9460	10	0.20046	T	0.44	-4.7767	12.4248	0.55540	0.0:0.0:0.3688:0.6312	.	801;944	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	G	944	ENSP00000334952:R944G	ENSP00000334952:R944G	R	-	1	2	GPR125	21999562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.161000	0.50747	1.072000	0.40860	0.528000	0.53228	AGA		0.458	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			66	82	0	0	0	1	0	66	82					C	22390464	T	C	22390464	3	2	499	1	0	0	0	0	1	0	0	0	6639	1617	56	3	1139	3	GPR125	4	22390464	Missense_Mutation	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08		22390464	168763812	12	40065											
KIF6	221458	broad.mit.edu	37	chr6	39507890	39507890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctgggtttcctaggcGgaagggtgggctctgggact	16	8	3	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:39507890G>A	ENST00000287152.7	-	13	1628	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000373216.3_Missense_Mutation_p.R512C|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1534-1536)Cgc>Tgc		kinesin family member 6							192	195	194					6																	39507890		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507890G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1534C>T	6.37:g.39507890G>A	ENSP00000287152:p.Arg512Cys					KIF6_ENST00000373216.3_Missense_Mutation_p.R512C|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C|KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000538893.1_Intron	p.R512C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			13	1628	-			512		R -> H (in dbSNP:rs2273063).			Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1534C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078949	0.36662	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215	T;T;T;T	0.72167	-0.61;-0.62;-0.45;-0.63	6.04	2.62	0.31277	.	.	.	.	.	T	0.31949	0.0813	N	0.19112	0.55	0.09310	N	1	P;P;P	0.50443	0.61;0.935;0.476	B;B;B	0.40782	0.235;0.34;0.118	T	0.19679	-1.0298	9	0.56958	D	0.05	.	2.259	0.04062	0.1226:0.1801:0.495:0.2024	.	512;512;512	E7EUN7;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	C	512;512;351;512	ENSP00000287152:R512C;ENSP00000362312:R512C;ENSP00000362309:R351C;ENSP00000362311:R512C	ENSP00000287152:R512C	R	-	1	0	KIF6	39615868	0.038000	0.19896	0.015000	0.15790	0.054000	0.15201	1.255000	0.32909	1.505000	0.48720	0.563000	0.77884	CGC		0.498	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		72	108	0	0	0	1	0	72	108					A	39507890	G	A	39507890	3	1	499	1	0	0	0	0	1	0	0	0	8308	1116	39	1	954	1	KIF6	6	39507890	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		39507890	131607177	13	40066											
CYP39A1	51302	broad.mit.edu	37	chr6	46555791	46555791	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtttgaacaattcaggctCaggaaaatactttggatttc	9	6	2	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46555791C>T	ENST00000275016.2	-	9	1344	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CYP39A1_ENST00000489657.1_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	381					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|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)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AATTCAGGCTCAGGAAAATAC	0.299																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1141-1143)Gag>Aag		cytochrome P450, family 39, subfamily A, polypeptide 1							56	59	58					6																	46555791		2203	4297	6500	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46555791C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1141G>A	6.37:g.46555791C>T	ENSP00000275016:p.Glu381Lys						p.E381K	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			9	1344	-			381					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1141G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322765	0.95708	.	.	ENSG00000146233	ENST00000275016	D	0.85556	-2.0	6.06	6.06	0.98353	.	0.106858	0.64402	D	0.000007	D	0.90431	0.7004	M	0.64997	1.995	0.54753	D	0.999982	D;D	0.63046	0.992;0.992	D;D	0.65573	0.936;0.936	D	0.89753	0.3941	10	0.66056	D	0.02	-27.9498	20.6208	0.99490	0.0:1.0:0.0:0.0	.	361;381	B7Z786;Q9NYL5	.;CP39A_HUMAN	K	381	ENSP00000275016:E381K	ENSP00000275016:E381K	E	-	1	0	CYP39A1	46663750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.117000	0.71577	2.882000	0.98803	0.655000	0.94253	GAG		0.299	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			30	44	0	0	0	1	0	30	44					T	46555791	C	T	46555791	3	4	499	1	0	0	0	0	1	0	0	0	4177	835	29	2	284	2	CYP39A1	6	46555791	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	7047901	46555791	124559276	14	40067											
MEP1A	4224	broad.mit.edu	37	chr6	46766355	46766355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acttccagctgcaggcttggAcctctttcaaggggacatcc	10	13	2	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46766355A>T	ENST00000230588.4	+	4	167	c.158A>T	c.(157-159)gAc>gTc	p.D53V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	53					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)			GCAGGCTTGGACCTCTTTCAA	0.398																																						ENST00000230588.4																			0				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						c.(157-159)gAc>gTc		meprin A, alpha (PABA peptide hydrolase)							67	68	68					6																	46766355		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46766355A>T		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.158A>T	6.37:g.46766355A>T	ENSP00000230588:p.Asp53Val						p.D53V	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		4	167	+			53					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.158A>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.179050	0.38511	.	.	ENSG00000112818	ENST00000230588	T	0.26373	1.74	5.17	3.93	0.45458	.	0.299139	0.41194	D	0.000939	T	0.14098	0.0341	M	0.72894	2.215	0.53688	D	0.999975	B;B	0.22276	0.067;0.008	B;B	0.14578	0.011;0.008	T	0.05784	-1.0864	10	0.44086	T	0.13	-21.7451	8.6304	0.33915	0.8293:0.0:0.0:0.1707	.	81;53	B7ZL91;Q16819	.;MEP1A_HUMAN	V	53	ENSP00000230588:D53V	ENSP00000230588:D53V	D	+	2	0	MEP1A	46874314	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.190000	0.50973	2.073000	0.62155	0.455000	0.32223	GAC		0.398	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		34	53	0	0	0	1	0	34	53					T	46766355	A	T	46766355	3	4	499	1	0	0	0	0	1	0	0	0	9475	275	10	5	172	5	MEP1A	6	46766355	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	210564	46766355	124348712	15	40068											
EIF3B	8662	broad.mit.edu	37	chr7	2403386	2403386	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccctgtctcaattgaAgaaagagcggtgtgtatttg	11	6	1	4			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:2403386A>G	ENST00000360876.4	+	5	1046	c.990A>G	c.(988-990)gaA>gaG	p.E330E	EIF3B_ENST00000397011.2_Silent_p.E330E	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)		TCTCAATTGAAGAAAGAGCGG	0.448																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(988-990)gaA>gaG		eukaryotic translation initiation factor 3, subunit B							50	48	49					7																	2403386		2203	4300	6503	SO:0001819	synonymous_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2403386A>G	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.990A>G	7.37:g.2403386A>G						EIF3B_ENST00000397011.2_Silent_p.E330E	p.E330E	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	5	1046	+		Ovarian(82;0.0253)	330			Sufficient for interaction with EIF3E.			Silent	SNP	ENST00000360876.4	37	c.990A>G	CCDS5332.1																																																																																				0.448	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			39	31	0	0	0	1	0	39	31					G	2403386	A	G	2403386	2	3	499	1	0	0	0	0	0	0	0	1	5013	69	3	3		3	EIF3B	7	2403386	Silent	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		2403386	156735277	16	40069											
FLNC	2318	broad.mit.edu	37	chr7	128493774	128493774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccccacttcaggaagcCccttcactgtgaaggtgacc	9	14	2	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:128493774C>T	ENST00000325888.8	+	39	6628	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2123					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						TTCAGGAAGCCCCTTCACTGT	0.642																																						ENST00000325888.8																			0				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						c.(6367-6369)Ccc>Tcc		filamin C, gamma							48	59	55					7																	128493774		2093	4203	6296	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493774C>T	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.6367C>T	7.37:g.128493774C>T	ENSP00000327145:p.Pro2123Ser					FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S|RP11-309L24.2_ENST00000469965.1_RNA	p.P2123S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			39	6628	+			2123					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6367C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667691	0.88348	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.96334	-3.98;-3.98	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99107	1.0845	10	0.87932	D	0	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	2090;2123	Q14315-2;Q14315	.;FLNC_HUMAN	S	2123;2090	ENSP00000327145:P2123S;ENSP00000344002:P2090S	ENSP00000327145:P2123S	P	+	1	0	FLNC	128281010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.792000	0.85828	2.436000	0.82500	0.561000	0.74099	CCC		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			27	26	0	0	0	1	0	27	26					T	128493774	C	T	128493774	3	4	499	1	0	0	0	0	1	0	0	0	5935	623	22	2	6521	2	FLNC	7	128493774	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	126090388	128493774	30644889	17	40070											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.53	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		7	73						7	73	---	---	---	---	-	155531074	CA	-	155531073	7	5	499	1	0	1	0	1	0	0	0	0	13130	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-VM-A8CB-01A-11D-A36O-08	27037299	155531073	3607590	18	40071											
NEFM	4741	broad.mit.edu	37	chr8	24774809	24774809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccattacagaggaattgGccgtttccatgaaggaagag	12	8	0	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr8:24774809G>A	ENST00000221166.5	+	3	2223	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.A481T|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T			P07197	NFM_HUMAN	neurofilament, medium polypeptide	481	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGAGGAATTGGCCGTTTCCAT	0.458																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1441-1443)Gcc>Acc		neurofilament, medium polypeptide							53	54	54					8																	24774809		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24774809G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1441G>A	8.37:g.24774809G>A	ENSP00000221166:p.Ala481Thr					NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000518131.1_Missense_Mutation_p.A481T	p.A481T			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2223	+		Prostate(55;0.157)	481			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1441G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129519	0.21041	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94232	-1.73;-1.75;-1.75;-3.38	4.8	3.91	0.45181	.	0.142736	0.30979	N	0.008498	D	0.92828	0.7719	M	0.82923	2.615	0.49389	D	0.999787	B;B	0.27498	0.009;0.18	B;B	0.23150	0.004;0.044	D	0.91555	0.5260	10	0.72032	D	0.01	.	13.6583	0.62352	0.0764:0.0:0.9236:0.0	.	481;481	E7EMV2;P07197	.;NFM_HUMAN	T	481;481;481;105	ENSP00000221166:A481T;ENSP00000427872:A481T;ENSP00000410137:A481T;ENSP00000412295:A105T	ENSP00000221166:A481T	A	+	1	0	NEFM	24830714	1.000000	0.71417	0.572000	0.28498	0.103000	0.19146	4.717000	0.61923	1.123000	0.41961	0.467000	0.42956	GCC		0.458	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		23	18	0	0	0	1	0	23	18					A	24774809	G	A	24774809	3	1	499	1	0	0	0	0	1	0	0	0	10316	1203	42	2	1451	2	NEFM	8	24774809	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		24774809	121589213	19	40072											
PTGR1	22949	broad.mit.edu	37	chr9	114337092	114337092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaatttcttcatctggcCgataacagtgtttgaaaact	6	9	3	1	rs146199919	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr9:114337092C>T	ENST00000407693.2	-	8	944	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S|PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	228					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						TTCATCTGGCCGATAACAGTG	0.403																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(682-684)Ggc>Agc		prostaglandin reductase 1		C	,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	130	121	124		,682,682,682	-9.5	0	9	dbSNP_134	124	8,8592	6.4+/-24.3	0,8,4292	yes	intron,missense,missense,missense	PTGR1,ZNF483	NM_001007169.2,NM_001146108.1,NM_001146109.1,NM_012212.3	,56,56,56	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	,benign,benign,benign	,228/330,228/302,228/330	114337092	9,12997	2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114337092C>T	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.682G>A	9.37:g.114337092C>T	ENSP00000385763:p.Gly228Ser					PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S	p.G228S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN			8	944	-			228					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.682G>A	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.482746	0.01027	2.27E-4	9.3E-4	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	4.75	-9.49	0.00587	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.121620	0.06438	N	0.725462	T	0.01029	0.0034	N	0.01109	-1.01	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.37407	-0.9707	10	0.07325	T	0.83	-12.8136	0.6394	0.00808	0.3822:0.1994:0.1562:0.2622	.	228;228;105;228	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	S	228;228;228;105;105	ENSP00000440281:G228S;ENSP00000311572:G228S;ENSP00000385763:G228S;ENSP00000238248:G105S	ENSP00000238248:G105S	G	-	1	0	PTGR1	113376913	0.000000	0.05858	0.000000	0.03702	0.412000	0.31113	-1.495000	0.02294	-3.924000	0.00091	-2.457000	0.00206	GGC		0.403	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			9	77	0	0	0	1	0	9	77					T	114337092	C	T	114337092	3	4	499	1	0	0	0	0	1	0	0	0	12753	652	23	1	350	1	PTGR1	9	114337092	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		114337092	26876339	20	40073											
OR4S2	219431	broad.mit.edu	37	chr11	55419211	55419211	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tattttacaccattatcactCccatgttaaatcctctgatt	2	11	2	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr11:55419211C>G	ENST00000312422.2	+	1	832	c.832C>G	c.(832-834)Ccc>Gcc	p.P278A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	278						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(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATTATCACTCCCATGTTAAA	0.408																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(832-834)Ccc>Gcc		olfactory receptor, family 4, subfamily S, member 2							157	144	149					11																	55419211		2181	4037	6218	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419211C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.832C>G	11.37:g.55419211C>G	ENSP00000310337:p.Pro278Ala						p.P278A	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	832	+		all_epithelial(135;0.0748)	278					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.832C>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429277	0.83776	.	.	ENSG00000174982	ENST00000312422	T	0.00340	8.04	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.01523	0.0049	H	0.95982	3.75	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.40346	-0.9568	10	0.87932	D	0	.	17.6379	0.88128	0.0:1.0:0.0:0.0	.	278	Q8NH73	OR4S2_HUMAN	A	278	ENSP00000310337:P278A	ENSP00000310337:P278A	P	+	1	0	OR4S2	55175787	0.998000	0.40836	0.992000	0.48379	0.994000	0.84299	4.865000	0.62998	2.508000	0.84585	0.542000	0.68232	CCC		0.408	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		5	334	0	0	0	1	0	5	334					G	55419211	C	G	55419211	3	3	499	1	0	0	0	0	1	0	0	0	11083	855	30	4	834	4	OR4S2	11	55419211	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		55419211	79587305	21	40074											
ATXN2	6311	broad.mit.edu	37	chr12	111895132	111895132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggtagcgttagggtgCgcatactgctgagcaaggga	17	7	0	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3400-3402)gcG>gcA		ataxin 2							227	186	200					12																	111895132		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895132C>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3402G>A	12.37:g.111895132C>T						ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000550104.1_3'UTR	p.A1134A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			22	3563	-			1134					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3402G>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	ATXN2	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		8	45	0	0	0	1	0	8	45					T	111895132	C	T	111895132	2	4	499	1	0	0	0	0	0	0	0	1	1211	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		111895132	21956763	22	40075											
VPS36	51028	broad.mit.edu	37	chr13	52991270	52991270	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgacgccactgtcaaacacAcggagcctgaaaaccacagg	9	13	1	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:52991270A>T	ENST00000378060.4	-	12	939	c.912T>A	c.(910-912)cgT>cgA	p.R304R		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	304					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		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;3.14e-08)		TGTCAAACACACGGAGCCTGA	0.468																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(910-912)cgT>cgA		vacuolar protein sorting 36 homolog (S. cerevisiae)							63	57	59					13																	52991270		2203	4300	6503	SO:0001819	synonymous_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52991270A>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.912T>A	13.37:g.52991270A>T							p.R304R	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	12	939	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	304					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	c.912T>A	CCDS9434.1																																																																																				0.468	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			29	37	0	0	0	1	0	29	37					T	52991270	A	T	52991270	2	4	499	1	0	0	0	0	0	0	0	1	17201	146	6	5		5	VPS36	13	52991270	Silent	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		52991270	62178608	23	40076											
HS6ST3	266722	broad.mit.edu	37	chr13	97485206	97485206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctaacgtggagatcaaCgagggtgcccgccaacgcat	12	12	2	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:97485206C>T	ENST00000376705.2	+	2	1194	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	390					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAGATCAACGAGGGTGCCC	0.498																																						ENST00000376705.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(1168-1170)aaC>aaT		heparan sulfate 6-O-sulfotransferase 3							91	85	87					13																	97485206		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:97485206C>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1170C>T	13.37:g.97485206C>T							p.N390N	NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN			2	1194	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		390					Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.1170C>T	CCDS9481.1																																																																																				0.498	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		7	100	0	0	0	1	0	7	100					T	97485206	C	T	97485206	2	4	499	1	0	0	0	0	0	0	0	1	7372	535	19	1		1	HS6ST3	13	97485206	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	44493936	97485206	17684672	24	40077											
CYP46A1	10858	broad.mit.edu	37	chr14	100166434	100166434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagacctggccttcagcCggaggtgagtgtggccggag	16	10	2	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr14:100166434C>T	ENST00000261835.3	+	5	543	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					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)				GGCCTTCAGCCGGAGGTGAGT	0.627																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(439-441)Cgg>Tgg		cytochrome P450, family 46, subfamily A, polypeptide 1							59	52	55					14																	100166434		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166434C>T	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.439C>T	14.37:g.100166434C>T	ENSP00000261835:p.Arg147Trp					CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	p.R147W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			5	543	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	147					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.439C>T	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.828902|3.828902	0.71258|0.71258	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126	.|T;T	.|0.69435	.|-0.4;-0.36	4.84|4.84	2.93|2.93	0.34026|0.34026	.|.	.|0.051458	.|0.85682	.|D	.|0.000000	T|T	0.76884|0.76884	0.4050|0.4050	L|L	0.61036|0.61036	1.89|1.89	0.43793|0.43793	D|D	0.996332|0.996332	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.76517|0.76517	-0.2930|-0.2930	5|10	.|0.62326	.|D	.|0.03	.|.	10.625|10.625	0.45502|0.45502	0.3209:0.6791:0.0:0.0|0.3209:0.6791:0.0:0.0	.|.	.|147;118	.|Q9Y6A2;Q59ER2	.|CP46A_HUMAN;.	L|W	133|147;50	.|ENSP00000261835:R147W;ENSP00000405779:R50W	.|ENSP00000261835:R147W	P|R	+|+	2|1	0|2	CYP46A1|CYP46A1	99236187|99236187	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	1.673000|1.673000	0.37534|0.37534	0.661000|0.661000	0.30985|0.30985	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.627	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			5	13	0	0	0	1	0	5	13					T	100166434	C	T	100166434	3	4	499	1	0	0	0	0	1	0	0	0	4182	643	23	1	457	1	CYP46A1	14	100166434	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		100166434	7183106	25	40078											
HERC1	8925	broad.mit.edu	37	chr15	64067698	64067698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtactacttccttattgctaAccagtttagaatacagaaca	5	9	0	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:64067698A>G	ENST00000443617.2	-	2	212	c.125T>C	c.(124-126)gTt>gCt	p.V42A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	42					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						CTTATTGCTAACCAGTTTAGA	0.433																																						ENST00000443617.2																			0				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						c.(124-126)gTt>gCt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104	100	101					15																	64067698		1910	4126	6036	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067698A>G	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.125T>C	15.37:g.64067698A>G	ENSP00000390158:p.Val42Ala						p.V42A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			2	212	-			42					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.125T>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208238	0.58343	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00543	6.68	5.65	5.65	0.86999	.	0.515778	0.18052	U	0.153257	T	0.00637	0.0021	L	0.34521	1.04	0.39911	D	0.974023	B;B;B	0.16396	0.017;0.01;0.01	B;B;B	0.18561	0.022;0.01;0.015	T	0.72246	-0.4349	10	0.66056	D	0.02	.	15.8771	0.79173	1.0:0.0:0.0:0.0	.	42;42;42	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	A	42	ENSP00000390158:V42A	ENSP00000389613:V42A	V	-	2	0	HERC1	61854751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.271000	0.95698	2.147000	0.66899	0.459000	0.35465	GTT		0.433	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	109	0	0	0	1	0	4	109					G	64067698	A	G	64067698	3	3	499	1	0	0	0	0	1	0	0	0	7057	43	2	3	14768	3	HERC1	15	64067698	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		64067698	38463694	26	40079											
PML	5371	broad.mit.edu	37	chr15	74328199	74328199	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcaagtccaagtgccTctggaagcctctccaattac	7	15	3	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:74328199T>C	ENST00000268058.3	+	7	1806				PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268059.6_Silent_p.P799P	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						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						TCCAAGTGCCTCTGGAAGCCT	0.627			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				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						c.(2395-2397)ccT>ccC		promyelocytic leukemia							74	91	85					15																	74328199		2196	4297	6493	SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74328199T>C	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.1710+1328T>C	15.37:g.74328199T>C						PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_Intron	p.P799P	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2493	+			89					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.2397T>C	CCDS10255.1																																																																																				0.627	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		6	171	0	0	0	1	0	6	171					C	74328199	T	C	74328199	1	2	499	0	1	0	0	0	0	0	0	0	12135	1538	54	3		3	PML	15	74328199	Intron	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08	10260501	74328199	28203193	27	40080											
C15orf58	390637	broad.mit.edu	37	chr15	90784550	90784550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggagaagtcctcttccGtttgcaccgggagcctgatc	12	14	1	2	rs143773020	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:90784550G>A	ENST00000558017.1	+	4	830	c.410G>A	c.(409-411)cGt>cAt	p.R137H	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R137H	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	137					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										GTCCTCTTCCGTTTGCACCGG	0.597													G|||	6	0.00119808	0.0045	0.0	5008	,	,		19691	0.0		0.0	False		,,,				2504	0.0					ENST00000558017.1																			0											c.(409-411)cGt>cAt		GDP-D-glucose phosphorylase 1		G	HIS/ARG	13,4385	20.2+/-43.8	0,13,2186	99	95	97		410	4	0.9	15	dbSNP_134	97	0,8596		0,0,4298	yes	missense	C15orf58	NM_001013657.2	29	0,13,6484	AA,AG,GG		0.0,0.2956,0.1	benign	137/386	90784550	13,12981	2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784550G>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.410G>A	15.37:g.90784550G>A	ENSP00000452793:p.Arg137His					GDPGP1_ENST00000329600.6_Missense_Mutation_p.R137H	p.R137H	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	830	+			137						Missense_Mutation	SNP	ENST00000558017.1	37	c.410G>A	CCDS32327.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.44	2.236960	0.39498	0.002956	0.0	ENSG00000183208	ENST00000329600	T	0.24350	1.86	5.85	3.97	0.46021	.	0.137043	0.51477	D	0.000094	T	0.19967	0.0480	M	0.69823	2.125	0.36937	D	0.892209	B	0.10296	0.003	B	0.04013	0.001	T	0.15549	-1.0433	10	0.44086	T	0.13	-8.054	9.0592	0.36425	0.2275:0.0:0.7725:0.0	.	137	Q6ZNW5	VTC2_HUMAN	H	137	ENSP00000368405:R137H	ENSP00000368405:R137H	R	+	2	0	C15orf58	88585554	0.258000	0.24033	0.936000	0.37596	0.705000	0.40729	0.554000	0.23407	1.482000	0.48325	0.655000	0.94253	CGT		0.597	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		8	147	0	0	0	1	0	8	147					A	90784550	G	A	90784550	3	1	499	1	0	0	0	0	1	0	0	0	1806	1145	40	1	412	1	C15orf58	15	90784550	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	16456351	90784550	11746842	28	40081											
MYH3	4621	broad.mit.edu	37	chr17	10546191	10546191	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtccatcccgaagtcaatGaacgtccactcgatgccttc	8	14	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:10546191G>T	ENST00000583535.1	-	15	1620	c.1533C>A	c.(1531-1533)ttC>ttA	p.F511L	MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	511	Myosin motor.				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						CGAAGTCAATGAACGTCCACT	0.502																																						ENST00000583535.1																			0				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						c.(1531-1533)ttC>ttA		myosin, heavy chain 3, skeletal muscle, embryonic							238	206	217					17																	10546191		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10546191G>T		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.1533C>A	17.37:g.10546191G>T	ENSP00000464317:p.Phe511Leu					MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			15	1620	-			511			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1533C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537487	0.85917	.	.	ENSG00000109063	ENST00000226209	D	0.87571	-2.27	4.6	4.6	0.57074	Myosin head, motor domain (3);	.	.	.	.	D	0.93697	0.7986	M	0.90814	3.15	0.46113	D	0.998879	P	0.51240	0.943	P	0.57283	0.817	D	0.95015	0.8155	9	0.87932	D	0	.	17.9673	0.89103	0.0:0.0:1.0:0.0	.	511	P11055	MYH3_HUMAN	L	511	ENSP00000226209:F511L	ENSP00000226209:F511L	F	-	3	2	MYH3	10486916	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	2.689000	0.46993	2.553000	0.86117	0.650000	0.86243	TTC		0.502	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		87	132	1	0	3.26951e-42	1	3.429e-42	87	132					T	10546191	G	T	10546191	3	4	499	1	0	0	0	0	1	0	0	0	10036	1281	45	4	4397	4	MYH3	17	10546191	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		10546191	70649019	29	40082											
CCL11	6356	broad.mit.edu	37	chr17	32614693	32614693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatctggaccaaaaatctcCaactccaaagccataaataa	4	11	2	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:32614693C>T	ENST00000305869.3	+	3	419	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	93					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CAAAAATCTCCAACTCCAAAG	0.438																																						ENST00000305869.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(277-279)cCa>cTa		chemokine (C-C motif) ligand 11							67	58	61					17																	32614693		2203	4300	6503	SO:0001583	missense	6356				cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity	g.chr17:32614693C>T	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"Chemokine ligands", "Endogenous ligands"	10610	protein-coding gene	gene with protein product	"eotaxin-1"	601156	"small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.278C>T	17.37:g.32614693C>T	ENSP00000302234:p.Pro93Leu						p.P93L	NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	3	419	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	93					P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	c.278C>T	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.120045	0.20877	.	.	ENSG00000172156	ENST00000305869	T	0.03413	3.94	3.74	-4.18	0.03846	Chemokine interleukin-8-like domain (1);	2.100000	0.02471	N	0.087486	T	0.02767	0.0083	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43360	-0.9396	9	0.56958	D	0.05	.	1.683	0.02835	0.2397:0.3356:0.2928:0.132	.	93	P51671	CCL11_HUMAN	L	93	ENSP00000302234:P93L	ENSP00000302234:P93L	P	+	2	0	CCL11	29638806	0.000000	0.05858	0.056000	0.19401	0.020000	0.10135	-1.370000	0.02575	-0.970000	0.03569	-0.254000	0.11334	CCA		0.438	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		12	27	0	0	0	1	0	12	27					T	32614693	C	T	32614693	3	4	499	1	0	0	0	0	1	0	0	0	2883	594	21	2	288	2	CCL11	17	32614693	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	22068502	32614693	48580517	30	40083											
MAP2K6	5608	broad.mit.edu	37	chr17	67501928	67501928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttccccataggcaagaaGcgaaaccctggccttaaaat	7	12	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:67501928G>A	ENST00000590474.1	+	2	311	c.24G>A	c.(22-24)aaG>aaA	p.K8K	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	8	D domain. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|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 apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGGCAAGAAGCGAAACCCTG	0.433																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(22-24)aaG>aaA		mitogen-activated protein kinase kinase 6							138	138	138					17																	67501928		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67501928G>A	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.24G>A	17.37:g.67501928G>A						MAP2K6_ENST00000589647.1_5'UTR	p.K8K	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			2	311	+	Breast(10;6.05e-10)		8						Silent	SNP	ENST00000590474.1	37	c.24G>A	CCDS11686.1																																																																																				0.433	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		10	146	0	0	0	1	0	10	146					A	67501928	G	A	67501928	2	1	499	1	0	0	0	0	0	0	0	1	9241	962	34	2		2	MAP2K6	17	67501928	Silent	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	34887235	67501928	13693282	31	40084											
EVPL	2125	broad.mit.edu	37	chr17	74003439	74003439	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggatggggatgcggcctgtCctcttggggtcgatgagccc	17	10	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:74003439C>A	ENST00000301607.3	-	22	6100	c.5847G>T	c.(5845-5847)agG>agT	p.R1949S	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1949	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGCCTGTCCTCTTGGGGT	0.662																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5845-5847)agG>agT		envoplakin							45	44	44					17																	74003439		2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003439C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5847G>T	17.37:g.74003439C>A	ENSP00000301607:p.Arg1949Ser					EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	p.R1949S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	6100	-			1949			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5847G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580655	0.28180	.	.	ENSG00000167880	ENST00000301607	T	0.70869	-0.52	5.48	3.45	0.39498	.	0.128937	0.52532	D	0.000073	T	0.52273	0.1724	N	0.25647	0.755	0.29550	N	0.85145	B;B	0.31655	0.097;0.334	B;B	0.31946	0.051;0.138	T	0.50294	-0.8845	10	0.45353	T	0.12	-43.2898	4.2313	0.10604	0.0:0.5427:0.1752:0.282	.	1971;1949	B7ZLH8;Q92817	.;EVPL_HUMAN	S	1949	ENSP00000301607:R1949S	ENSP00000301607:R1949S	R	-	3	2	EVPL	71515034	0.990000	0.36364	0.997000	0.53966	0.967000	0.64934	0.200000	0.17257	0.652000	0.30806	-0.258000	0.10820	AGG		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		39	49	1	0	2.75727e-19	1	2.82292e-19	39	49					A	74003439	C	A	74003439	3	1	499	1	0	0	0	0	1	0	0	0	5292	854	30	4	258	4	EVPL	17	74003439	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	6501511	74003439	7191771	32	40085											
GRIK5	2901	broad.mit.edu	37	chr19	42507582	42507582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcacgataaaaatgcCaccaatgttctccatgccca	7	12	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42507582C>T	ENST00000262895.3	-	18	2415	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S|GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	806					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ATAAAAATGCCACCAATGTTC	0.577																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2416-2418)Ggc>Agc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						108	89	95					19																	42507582		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42507582C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2416G>A	19.37:g.42507582C>T	ENSP00000262895:p.Gly806Ser					GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S	p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			18	2415	-		Prostate(69;0.059)	806					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.2416G>A	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.095655|4.095655	0.76870|0.76870	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.62364|.	0.03;0.03|.	4.07|4.07	4.07|4.07	0.47477|0.47477	Ionotropic glutamate receptor (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.85283|.	0.5661|.	M|M	0.93328|0.93328	3.405|3.405	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.34147|.	0.438|.	P|.	0.47941|.	0.562|.	D|.	0.89734|.	0.3928|.	10|.	0.87932|.	D|.	0|.	.|.	15.1804|15.1804	0.72952|0.72952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	806|.	Q16478|.	GRIK5_HUMAN|.	S|X	806|182	ENSP00000262895:G806S;ENSP00000301218:G806S|.	ENSP00000262895:G806S|.	G|W	-|-	1|2	0|0	GRIK5|GRIK5	47199422|47199422	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.533000|0.533000	0.34776|0.34776	7.409000|7.409000	0.80053|0.80053	2.093000|2.093000	0.63338|0.63338	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			28	4	0	0	0	1	0	28	4					T	42507582	C	T	42507582	3	4	499	1	0	0	0	0	1	0	0	0	6777	594	21	2	534	2	GRIK5	19	42507582	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		42507582	16621401	33	40086											
CIC	23152	broad.mit.edu	37	chr19	42791808	42791808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaccggaccgtcagcAagatcctgggcgagtggtgg	16	10	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42791808A>G	ENST00000575354.2	+	5	734	c.694A>G	c.(694-696)Aag>Gag	p.K232E	CIC_ENST00000572681.2_Missense_Mutation_p.K1141E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	232					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)				GACCGTCAGCAAGATCCTGGG	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				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						c.(3421-3423)Aag>Gag		capicua transcriptional repressor							80	74	76					19																	42791808		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791808A>G	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.694A>G	19.37:g.42791808A>G	ENSP00000458663:p.Lys232Glu					CIC_ENST00000575354.2_Missense_Mutation_p.K232E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E	p.K1141E			Q96RK0	CIC_HUMAN			6	3489	+		Prostate(69;0.00682)	232			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3421A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101129	0.56183	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.84701	0.5530	M	0.93854	3.465	0.58432	D	0.999994	D	0.69078	0.997	D	0.80764	0.994	D	0.88061	0.2794	8	0.87932	D	0	-14.3513	11.626	0.51145	1.0:0.0:0.0:0.0	.	232	Q96RK0	CIC_HUMAN	E	232	.	ENSP00000160740:K232E	K	+	1	0	CIC	47483648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AAG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	8	0	0	0	1	0	36	8					G	42791808	A	G	42791808	3	3	499	1	0	0	0	0	1	0	0	0	3424	131	5	3	712	3	CIC	19	42791808	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	284226	42791808	16337175	34	40087											
KIF16B	55614	broad.mit.edu	37	chr20	16387071	16387071	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttggatggttaaagcgaaacAtattggttcttcccaagaga	10	6	1	1	rs375823359		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:16387071A>T	ENST00000354981.2	-	16	1800	c.1643T>A	c.(1642-1644)aTg>aAg	p.M548K	KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	548					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|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)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGCGAAACATATTGGTTCT	0.468																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1642-1644)aTg>aAg		kinesin family member 16B		A	LYS/MET,LYS/MET,LYS/MET	0,4406		0,0,2203	210	190	197		1643,1643,1643	5.9	1	20		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	95,95,95	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	548/1267,548/1393,548/1318	16387071	1,13005	2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16387071A>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1643T>A	20.37:g.16387071A>T	ENSP00000347076:p.Met548Lys					KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K	p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			16	1800	-			548					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1643T>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611253	0.87258	0.0	1.16E-4	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.71222	-0.55;-0.55;-0.55	5.95	5.95	0.96441	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;P	0.67103	0.949;0.949;0.949;0.889	T	0.81243	-0.1021	10	0.87932	D	0	.	15.3895	0.74731	1.0:0.0:0.0:0.0	.	548;548;548;548	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	548	ENSP00000347076:M548K;ENSP00000347995:M548K;ENSP00000384164:M548K	ENSP00000347076:M548K	M	-	2	0	KIF16B	16335071	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.466000	0.90387	2.272000	0.75746	0.460000	0.39030	ATG		0.468	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		61	83	0	0	0	1	0	61	83					T	16387071	A	T	16387071	3	4	499	1	0	0	0	0	1	0	0	0	8278	217	8	5	2354	5	KIF16B	20	16387071	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		16387071	46638449	35	40088											
SLC5A1	6523	broad.mit.edu	37	chr22	32487699	32487699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcaccatggacatctaCgccaaggtccgcaagagagc	9	14	3	1	rs200206252		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr22:32487699C>T	ENST00000266088.4	+	11	1480	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	SLC5A1_ENST00000543737.1_Silent_p.Y283Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	410					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TGGACATCTACGCCAAGGTCC	0.537																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1228-1230)taC>taT		solute carrier family 5 (sodium/glucose cotransporter), member 1							130	109	116					22																	32487699		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32487699C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1230C>T	22.37:g.32487699C>T						SLC5A1_ENST00000543737.1_Silent_p.Y283Y	p.Y410Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			11	1480	+			410					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1230C>T	CCDS13902.1																																																																																				0.537	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		5	119	0	0	0	1	0	5	119					T	32487699	C	T	32487699	2	4	499	1	0	0	0	0	0	0	0	1	14661	547	19	1		1	SLC5A1	22	32487699	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		32487699	18816867	36	40089											
IGBP1	3476	broad.mit.edu	37	chrX	69370131	69370131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagcaacatcggaaatAtggagcattaccggatcagg	12	7	1	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:69370131A>G	ENST00000342206.6	+	5	1329	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	IGBP1-AS2_ENST00000403371.2_RNA|IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	277	Interaction with MID1.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATCGGAAATATGGAGCATTA	0.458																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(829-831)tAt>tGt		immunoglobulin (CD79A) binding protein 1							96	76	83					X																	69370131		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69370131A>G	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"alpha 4"	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.830A>G	X.37:g.69370131A>G	ENSP00000363661:p.Tyr277Cys					IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C	p.Y277C			P78318	IGBP1_HUMAN			5	1329	+			277					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.830A>G	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251652	0.22880	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.42513	0.97;0.97	4.59	-0.979	0.10276	.	0.825267	0.11718	N	0.536228	T	0.34135	0.0887	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29610	-1.0006	10	0.41790	T	0.15	.	4.8071	0.13325	0.4474:0.0:0.0901:0.4624	.	277	P78318	IGBP1_HUMAN	C	277	ENSP00000363661:Y277C;ENSP00000348784:Y277C	ENSP00000363661:Y277C	Y	+	2	0	IGBP1	69286856	0.009000	0.17119	0.001000	0.08648	0.988000	0.76386	1.440000	0.35024	-0.270000	0.09285	0.438000	0.28831	TAT		0.458	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			7	20	0	0	0	1	0	7	20					G	69370131	A	G	69370131	3	3	499	1	0	0	0	0	1	0	0	0	7567	449	16	3	848	3	IGBP1	23	69370131	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		69370131	85900429	37	40090											
USP26	83844	broad.mit.edu	37	chrX	132160495	132160495	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgcaggccatgatacaCtgatgtttccagaagtcatc	9	9	1	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:132160495C>G	ENST00000511190.1	-	6	2223	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	585	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)					CCATGATACACTGATGTTTCC	0.398																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				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						c.(1753-1755)aGt>aCt		ubiquitin specific peptidase 26							80	74	76					X																	132160495		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160495C>G	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.1754G>C	X.37:g.132160495C>G	ENSP00000423390:p.Ser585Thr					USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2223	-	Acute lymphoblastic leukemia(192;0.000127)		585					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1754G>C	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896593	0.33442	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.74526	-0.85;-0.85;-0.85	4.14	-4.0	0.04057	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.969624	0.08429	N	0.947221	T	0.76681	0.4021	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	D	0.63113	0.911	T	0.67217	-0.5726	10	0.37606	T	0.19	-0.3941	6.3591	0.21419	0.1387:0.2327:0.0:0.6286	.	585	Q9BXU7	UBP26_HUMAN	T	585	ENSP00000359869:S585T;ENSP00000423390:S585T;ENSP00000384360:S585T	ENSP00000359869:S585T	S	-	2	0	USP26	131988161	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.943000	0.03917	-1.235000	0.02545	0.529000	0.55759	AGT		0.398	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		52	5	0	0	0	1	0	52	5					G	132160495	C	G	132160495	3	3	499	1	0	0	0	0	1	0	0	0	17054	565	20	4	990	4	USP26	23	132160495	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	62790364	132160495	23110065	38	40091											
HYI	81888	broad.mit.edu	37	chr1	43919413	43919413	+	Frame_Shift_Del	DEL	A	A	-													cacccgcgcggggaggccggAgagctcggggaatagccagg					rs6692611	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:43919413delA	ENST00000372425.4	-	1	247	c.52delT	c.(52-54)tccfs	p.S18fs	HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR|HYI_ENST00000372426.1_5'Flank|HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	18				S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041). {ECO:0000305}.			hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGGCCGGAGAGCTCGGGG	0.771																																						ENST00000372425.4																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(52-54)ccfs		hydroxypyruvate isomerase (putative)							3	3	3					1																	43919413		741	1762	2503	SO:0001589	frameshift_variant	81888						hydroxypyruvate isomerase activity	g.chr1:43919413delA		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.52delT	1.37:g.43919413delA	ENSP00000361502:p.Ser18fs					HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs	p.S18fs			Q5T013	HYI_HUMAN			1	247	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	18	S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).				D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Frame_Shift_Del	DEL	ENST00000372425.4	37	c.52delT	CCDS53309.1																																																																																				0.771	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		2	4						2	4	---	---	---	---	-	43919413	A	-	43919413	7	5	500	1	0	1	0	1	0	0	0	0	7468	304	11	0	813	0	HYI	1	43919413	Frame_Shift_Del	DEL	A	TCGA-VM-A8CD-01A-11D-A36O-08		43919413	205331208	1	40092											
CFH	3075	broad.mit.edu	37	chr1	196654268	196654268	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaaacacagaactggagatGaaatcacgtaccagtgtaga	9	7	1	4			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:196654268G>A	ENST00000359637.2	+	6	735	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000367429.4_Missense_Mutation_p.E289K			P08603	CFAH_HUMAN	complement factor H	289	Sushi 4. {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						AACTGGAGATGAAATCACGTA	0.388																																						ENST00000367429.4																			0				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						c.(865-867)Gaa>Aaa		complement factor H							122	112	116					1																	196654268		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654268G>A	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	ENST00000359637.2:c.673G>A	1.37:g.196654268G>A	ENSP00000352658:p.Glu225Lys					CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000359637.2_Missense_Mutation_p.E225K	p.E289K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			7	1105	+			289			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	11.02	1.517476	0.27123	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.62364	0.03;0.03;0.03	5.11	0.415	0.16411	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56396	0.1982	L	0.37561	1.115	0.24263	N	0.995278	P;B;B;B	0.45283	0.855;0.167;0.356;0.082	P;B;B;B	0.56216	0.794;0.065;0.102;0.065	T	0.47142	-0.9140	9	0.09338	T	0.73	.	4.4382	0.11561	0.2462:0.0:0.599:0.1548	.	225;289;289;289	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	K	289;289;289;225	ENSP00000356399:E289K;ENSP00000402656:E289K;ENSP00000352658:E225K	ENSP00000352658:E225K	E	+	1	0	CFH	194920891	0.000000	0.05858	0.443000	0.26883	0.444000	0.32077	-0.541000	0.06099	-0.170000	0.10816	0.585000	0.79938	GAA		0.388	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		63	106	0	0	0	1	0	63	106					A	196654268	G	A	196654268	3	1	500	1	0	0	0	0	1	0	0	0	3283	1291	45	2	891	2	CFH	1	196654268	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	152734855	196654268	52596353	2	40093											
CAPG	822	broad.mit.edu	37	chr2	85622055	85622055	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aattgcttgaagatgggactCtcatggccctgaggcagaat	12	8	1	4			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:85622055C>G	ENST00000409921.1	-	10	1029	c.963G>C	c.(961-963)gaG>gaC	p.E321D	CAPG_ENST00000409724.1_Missense_Mutation_p.E336D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Missense_Mutation_p.E336D			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGATGGGACTCTCATGGCCCT	0.597																																						ENST00000263867.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(1006-1008)gaG>gaC		capping protein (actin filament), gelsolin-like							58	56	57					2																	85622055		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85622055C>G	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.963G>C	2.37:g.85622055C>G	ENSP00000387063:p.Glu321Asp					CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D|CAPG_ENST00000409921.1_Missense_Mutation_p.E321D	p.E336D	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN			10	1257	-			336					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.1008G>C	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118934	0.77323	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.69	4.82	0.62117	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	H	0.94264	3.515	0.48452	D	0.999653	D;D	0.76494	0.99;0.999	D;D	0.85130	0.989;0.997	D	0.89298	0.3624	10	0.87932	D	0	.	10.5871	0.45288	0.0:0.9117:0.0:0.0883	.	321;336	B8ZZS7;P40121	.;CAPG_HUMAN	D	315;336;91;321;336;336	ENSP00000263867:E336D;ENSP00000397381:E91D;ENSP00000387063:E321D;ENSP00000386315:E336D;ENSP00000386965:E336D	ENSP00000263867:E336D	E	-	3	2	CAPG	85475566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.189000	0.32114	1.424000	0.47217	0.655000	0.94253	GAG		0.597	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		8	19	0	0	0	1	0	8	19					G	85622055	C	G	85622055	3	3	500	1	0	0	0	0	1	0	0	0	2621	912	32	4	42	4	CAPG	2	85622055	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		85622055	157577318	3	40094											
HOXD4	3233	broad.mit.edu	37	chr2	177017669	177017669	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggacctgacgaccttatAgaagtggggaccctgggccc	13	13	0	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:177017669A>G	ENST00000306324.3	+	2	1179	c.767A>G	c.(766-768)tAg>tGg	p.*256W	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	0					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)		ACGACCTTATAGAAGTGGGGA	0.632																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(766-768)tAg>tGg		homeobox D4							58	63	61					2																	177017669		2203	4300	6503	SO:0001578	stop_lost	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017669A>G		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.767A>G	2.37:g.177017669A>G	ENSP00000302548:p.*256Trpext*81					HOXD3_ENST00000468418.3_5'UTR	p.*256W	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1179	+			0					B2R9R3|Q96AU0	Nonstop_Mutation	SNP	ENST00000306324.3	37	c.767A>G	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574459	0.45902	.	.	ENSG00000170166	ENST00000306324	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.477	0.67554	1.0:0.0:0.0:0.0	.	.	.	.	W	256	.	.	X	+	2	0	HOXD4	176725915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.820000	0.75267	2.161000	0.67846	0.459000	0.35465	TAG		0.632	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			21	43	0	0	0	1	0	21	43					G	177017669	A	G	177017669	4	3	500	1	0	0	0	0	0	0	0	0	7324	433	15	3	773	3	HOXD4	2	177017669	Nonstop_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08	91395614	177017669	66181704	4	40095											
PLXNB1	5364	broad.mit.edu	37	chr3	48454246	48454246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcacacccaggtcccGgtgcaagggcgactcgcggt	14	15	1	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:48454246G>A	ENST00000358536.4	-	25	5028	c.4759C>T	c.(4759-4761)Cgg>Tgg	p.R1587W	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1587					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)		CCCAGGTCCCGGTGCAAGGGC	0.622																																						ENST00000358536.4																			0				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						c.(4759-4761)Cgg>Tgg		plexin B1							49	51	51					3																	48454246		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48454246G>A	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.4759C>T	3.37:g.48454246G>A	ENSP00000351338:p.Arg1587Trp					PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W	p.R1587W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	5028	-			1587					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4759C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435485	0.62955	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	4.32	1.11	0.20524	Plexin, cytoplasmic RasGAP domain (1);	0.072704	0.56097	D	0.000028	T	0.34600	0.0903	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.19712	-1.0297	10	0.72032	D	0.01	.	11.717	0.51659	0.0:0.0:0.3091:0.6909	.	1587;1404	O43157;O43157-2	PLXB1_HUMAN;.	W	1587;1404;1587;198;1404	ENSP00000296440:R1587W;ENSP00000351242:R1404W;ENSP00000351338:R1587W;ENSP00000389320:R198W;ENSP00000414199:R1404W	ENSP00000296440:R1587W	R	-	1	2	PLXNB1	48429250	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.451000	0.44952	0.499000	0.27970	-0.330000	0.08379	CGG		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		17	29	0	0	0	1	0	17	29					A	48454246	G	A	48454246	3	1	500	1	0	0	0	0	1	0	0	0	12123	1115	39	1	1704	1	PLXNB1	3	48454246	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		48454246	149568184	5	40096											
POLQ	10721	broad.mit.edu	37	chr3	121154999	121154999	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actttggagcataccctctcGatgaccatgggatttgaagg	11	9	1	2	rs147692745	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:121154999G>T	ENST00000264233.5	-	28	7641	c.7513C>A	c.(7513-7515)Cga>Aga	p.R2505R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2505					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)		ATACCCTCTCGATGACCATGG	0.403								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				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						c.(7513-7515)Cga>Aga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							222	198	206					3																	121154999		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121154999G>T	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.7513C>A	3.37:g.121154999G>T							p.R2505R	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	28	7641	-			2505					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.7513C>A	CCDS33833.1																																																																																				0.403	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		19	59	1	0	1.01871e-10	1	1.17544e-10	19	59					T	121154999	G	T	121154999	2	4	500	1	0	0	0	0	0	0	0	1	12208	1066	37	4		4	POLQ	3	121154999	Silent	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	72700753	121154999	76867431	6	40097											
ANK2	287	broad.mit.edu	37	chr4	114274342	114274342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaccgccatcttgaccaCagatgtgtctgataaggcag	10	10	2	4			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr4:114274342C>T	ENST00000357077.4	+	38	4621	c.4568C>T	c.(4567-4569)aCa>aTa	p.T1523I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1523	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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)		ATCTTGACCACAGATGTGTCT	0.443																																						ENST00000357077.4																			0				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						c.(4567-4569)aCa>aTa		ankyrin 2, neuronal							68	70	69					4																	114274342		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274342C>T	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.4568C>T	4.37:g.114274342C>T	ENSP00000349588:p.Thr1523Ile					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	p.T1523I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4621	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1490					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4568C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788720	0.70337	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.72835	1.76;1.76;-0.69;-0.58	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000028	D	0.83128	0.5187	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.943;0.973	T	0.81226	-0.1029	10	0.35671	T	0.21	.	17.0498	0.86515	0.0:0.8734:0.1266:0.0	.	1490;1523	Q01484;Q01484-4	ANK2_HUMAN;.	I	1436;1538;1523;1490	ENSP00000421011:T1436I;ENSP00000424722:T1538I;ENSP00000349588:T1523I;ENSP00000264366:T1490I	ENSP00000264366:T1490I	T	+	2	0	ANK2	114493791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.214000	0.51161	2.759000	0.94783	0.650000	0.86243	ACA		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		41	72	0	0	0	1	0	41	72					T	114274342	C	T	114274342	3	4	500	1	0	0	0	0	1	0	0	0	621	478	17	2	4783	2	ANK2	4	114274342	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		114274342	76879934	7	40098											
MCTP1	79772	broad.mit.edu	37	chr5	94044279	94044279	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgttatcaattgcatAtggactccgaagcttttttg	7	7	2	0	rs141609728		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr5:94044279A>G	ENST00000515393.1	-	22	2865	c.2866T>C	c.(2866-2868)Tat>Cat	p.Y956H	MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	956					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCAATTGCATATGGACTCCGA	0.323													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19217	0.0		0.0	False		,,,				2504	0.0					ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2866-2868)Tat>Cat		multiple C2 domains, transmembrane 1		A	HIS/TYR,HIS/TYR	2,4404	4.2+/-10.8	0,2,2201	139	130	133		2203,2866	5.1	1	5	dbSNP_134	133	0,8600		0,0,4300	yes	missense,missense	MCTP1	NM_001002796.2,NM_024717.4	83,83	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign	735/779,956/1000	94044279	2,13004	2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94044279A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2866T>C	5.37:g.94044279A>G	ENSP00000424126:p.Tyr956His					MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H	p.Y956H	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	22	2865	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	956					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2866T>C	CCDS34203.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	19.27	3.795473	0.70452	4.54E-4	0.0	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.76839	-1.05;-0.8;-0.01;-0.94;-0.76	5.1	5.1	0.69264	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.974	T	0.78795	-0.2064	10	0.15066	T	0.55	-10.3258	15.1704	0.72869	1.0:0.0:0.0:0.0	.	956;649;735	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	H	956;649;472;735;676	ENSP00000424126:Y956H;ENSP00000391639:Y649H;ENSP00000426417:Y472H;ENSP00000308957:Y735H;ENSP00000423410:Y676H	ENSP00000308957:Y735H	Y	-	1	0	MCTP1	94070035	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.910000	0.92685	2.059000	0.61396	0.533000	0.62120	TAT		0.323	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		13	33	0	0	0	1	0	13	33					G	94044279	A	G	94044279	3	3	500	1	0	0	0	0	1	0	0	0	9400	449	16	3	141	3	MCTP1	5	94044279	Missense_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08		94044279	86870981	8	40099											
NCR3	259197	broad.mit.edu	37	chr6	31556919	31556919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcgctgggaccacagcCggcagctgccttcttggacc	15	14	1	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:31556919C>T	ENST00000340027.5	-	4	794	c.531G>A	c.(529-531)ccG>ccA	p.P177P	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	177					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						GGACCACAGCCGGCAGCTGCC	0.582																																						ENST00000340027.5																			0				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						c.(529-531)ccG>ccA		natural cytotoxicity triggering receptor 3							36	37	36					6																	31556919		2203	4300	6503	SO:0001819	synonymous_variant	259197				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31556919C>T	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.531G>A	6.37:g.31556919C>T						NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	p.P177P	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN			4	794	-			177					B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Silent	SNP	ENST00000340027.5	37	c.531G>A	CCDS34397.1																																																																																				0.582	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			4	8	0	0	0	1	0	4	8					T	31556919	C	T	31556919	2	4	500	1	0	0	0	0	0	0	0	1	10239	639	23	1		1	NCR3	6	31556919	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		31556919	139558148	9	40100											
EGFR	1956	broad.mit.edu	37	chr7	55232997	55232997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacaactgtatccagtgtGcccactacattgacggcccc	8	15	0	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55232997G>T	ENST00000275493.2	+	15	1924	c.1747G>T	c.(1747-1749)Gcc>Tcc	p.A583S	EGFR_ENST00000454757.2_Missense_Mutation_p.A530S|EGFR_ENST00000455089.1_Missense_Mutation_p.A538S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000344576.2_Missense_Mutation_p.A583S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	583					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)	TATCCAGTGTGCCCACTACAT	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		0				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						c.(1747-1749)Gcc>Tcc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88	76	80					7																	55232997		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55232997G>T		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.1747G>T	7.37:g.55232997G>T	ENSP00000275493:p.Ala583Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000454757.2_Missense_Mutation_p.A530S|EGFR_ENST00000455089.1_Missense_Mutation_p.A538S	p.A583S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		15	1924	+	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)		583					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1747G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943353	0.53079	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.96	5.96	0.96718	Growth factor, receptor (1);	0.046579	0.85682	D	0.000000	T	0.56978	0.2022	L	0.46885	1.475	0.54753	D	0.99998	B;B;D;P	0.54397	0.03;0.052;0.966;0.837	B;B;D;P	0.64144	0.03;0.036;0.922;0.709	T	0.41179	-0.9523	10	0.27082	T	0.32	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	538;583;583;583	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	538;583;453;583;583;583;530;377	ENSP00000415559:A538S;ENSP00000342376:A583S;ENSP00000345973:A583S;ENSP00000275493:A583S;ENSP00000410031:A583S;ENSP00000395243:A530S	ENSP00000275493:A583S	A	+	1	0	EGFR	55200491	1.000000	0.71417	0.989000	0.46669	0.782000	0.44232	5.553000	0.67287	2.832000	0.97577	0.655000	0.94253	GCC		0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		12	61	1	0	1.05317e-09	1	1.18482e-09	12	61					T	55232997	G	T	55232997	3	4	500	1	0	0	0	0	1	0	0	0	4967	1319	46	4	1816	4	EGFR	7	55232997	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		55232997	103905666	10	40101			1	55		2	2	47	G		5.052081e-05
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	12	11	2	2	rs139236063		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					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)	p.G598V(15)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"A, O, Mis"	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"			"E, O"		NSCLC	"glioma, NSCLC"		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	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						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96	84	88					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		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.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	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)		15	1970	+	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)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		15	52	1	0	3.27435e-08	1	3.50823e-08	15	52					T	55233043	G	T	55233043	3	4	500	1	0	0	0	0	1	0	0	0	4967	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	46	55233043	103905620	11	40102			1	55		2	2	47	G		5.052081e-05
STEAP1	26872	broad.mit.edu	37	chr7	89790581	89790581	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatttatagtctgtcttacCcaatgaggcgatcctacaga	7	10	2	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:89790581C>G	ENST00000297205.2	+	3	747	c.547C>G	c.(547-549)Cca>Gca	p.P183A	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	183	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGTCTTACCCAATGAGGCG	0.388																																						ENST00000297205.2																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(547-549)Cca>Gca		six transmembrane epithelial antigen of the prostate 1							95	79	85					7																	89790581		2203	4299	6502	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790581C>G	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.547C>G	7.37:g.89790581C>G	ENSP00000297205:p.Pro183Ala					STEAP2-AS1_ENST00000478318.2_RNA	p.P183A	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN			3	747	+	all_hematologic(106;0.112)		183			Ferric oxidoreductase.		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.547C>G	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373993	0.61735	.	.	ENSG00000164647	ENST00000297205	D	0.90844	-2.74	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000001	D	0.91962	0.7454	M	0.78049	2.395	0.58432	D	0.999996	B;B	0.29162	0.01;0.235	B;B	0.34824	0.054;0.19	D	0.90607	0.4549	10	0.54805	T	0.06	-5.5449	19.113	0.93326	0.0:1.0:0.0:0.0	.	183;183	B4E221;Q9UHE8	.;STEA1_HUMAN	A	183	ENSP00000297205:P183A	ENSP00000297205:P183A	P	+	1	0	STEAP1	89628517	1.000000	0.71417	0.998000	0.56505	0.351000	0.29236	5.308000	0.65768	2.746000	0.94184	0.655000	0.94253	CCA		0.388	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		5	78	0	0	0	1	0	5	78					G	89790581	C	G	89790581	3	3	500	1	0	0	0	0	1	0	0	0	15276	623	22	4	553	4	STEAP1	7	89790581	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	34557538	89790581	69348082	12	40103											
CUX1	1523	broad.mit.edu	37	chr7	101671400	101671400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcgcaagcaggtagcgcCgctgctgaagagtttccaag	13	10	0	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:101671400C>T	ENST00000292535.7	+	3	202	c.164C>T	c.(163-165)cCg>cTg	p.P55L	CUX1_ENST00000360264.3_Missense_Mutation_p.P66L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L|CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L|CUX1_ENST00000560541.1_3'UTR	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	55					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						CAGGTAGCGCCGCTGCTGAAG	0.463																																						ENST00000360264.3																			0				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						c.(196-198)cCg>cTg		cut-like homeobox 1							78	74	75					7																	101671400		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101671400C>T	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.164C>T	7.37:g.101671400C>T	ENSP00000292535:p.Pro55Leu					CUX1_ENST00000292535.7_Missense_Mutation_p.P55L|CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L	p.P66L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			3	217	+			55					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.197C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841606	0.91197	.	.	ENSG00000257923	ENST00000292538;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.66297	2.02	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;P;D	0.91635	0.998;0.997;0.998;0.999;0.908;0.998	T	0.62618	-0.6816	10	0.87932	D	0	-15.4276	19.924	0.97098	0.0:1.0:0.0:0.0	.	29;55;66;66;66;66	B4DZZ2;P39880;B3KV79;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;CASP_HUMAN;.	L	66;66;66;66;66;55;55;55;55;55	ENSP00000292538:P66L;ENSP00000353401:P66L;ENSP00000409745:P66L;ENSP00000414091:P66L;ENSP00000292535:P55L;ENSP00000446630:P55L;ENSP00000447373:P55L;ENSP00000450125:P55L;ENSP00000451558:P55L	ENSP00000292535:P55L	P	+	2	0	CUX1	101458120	0.987000	0.35691	0.628000	0.29241	0.981000	0.71138	5.022000	0.64078	2.790000	0.95986	0.591000	0.81541	CCG		0.463	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		13	36	0	0	0	1	0	13	36					T	101671400	C	T	101671400	3	4	500	1	0	0	0	0	1	0	0	0	4064	652	23	1	241	1	CUX1	7	101671400	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	11880819	101671400	57467263	13	40104											
STAR	6770	broad.mit.edu	37	chr8	38006211	38006211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccacgtgctaggggtgggGccccccagggccctccggtt	15	15	0	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:38006211G>A	ENST00000276449.4	-	2	572	c.126C>T	c.(124-126)ggC>ggT	p.G42G	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	42					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)	p.T44fs*3(1)		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)		TAGGGGTGGGGCCCCCCAGGG	0.627																																						ENST00000276449.4																			1	Insertion - Frameshift(1)	p.T44fs*3(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	GRCh37	CI972707	STAR	I		c.(124-126)ggC>ggT		steroidogenic acute regulatory protein							40	46	44					8																	38006211		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006211G>A	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.126C>T	8.37:g.38006211G>A							p.G42G	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	572	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	42					Q16396	Silent	SNP	ENST00000276449.4	37	c.126C>T	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	6.136	0.393364	0.11638	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.28	1.28	0.21552	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	-11.3131	2.5252	0.04689	0.2124:0.1272:0.5293:0.131	.	.	.	.	V	21	.	.	A	-	2	0	STAR	38125368	0.830000	0.29337	0.882000	0.34594	0.372000	0.29890	0.100000	0.15231	0.275000	0.22094	0.462000	0.41574	GCC		0.627	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		18	44	0	0	0	1	0	18	44					A	38006211	G	A	38006211	2	1	500	1	0	0	0	0	0	0	0	1	15253	1190	42	2		2	STAR	8	38006211	Silent	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		38006211	108357811	14	40105											
ROR2	4920	broad.mit.edu	37	chr9	94486078	94486078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccccatcttctggggCgttctgtgtgtcatcagcgc	13	13	5	0	rs202213533	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:94486078C>T	ENST00000375708.3	-	9	2896	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCTGGGGCGTTCTGTGTG	0.632													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18796	0.0		0.0	False		,,,				2504	0.0					ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2698-2700)Gcc>Acc		receptor tyrosine kinase-like orphan receptor 2		C	THR/ALA	0,4406		0,0,2203	93	93	93		2698	-2.5	0	9		93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ROR2	NM_004560.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	900/944	94486078	2,13004	2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486078C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2698G>A	9.37:g.94486078C>T	ENSP00000364860:p.Ala900Thr					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.A900T	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2896	-			900					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2698G>A	CCDS6691.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.007	-1.944420	0.00479	0.0	2.33E-4	ENSG00000169071	ENST00000375708	T	0.76839	-1.05	4.75	-2.54	0.06307	.	2.189110	0.02565	N	0.097137	T	0.55497	0.1924	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50466	-0.8825	10	0.08179	T	0.78	.	8.3872	0.32508	0.0:0.2696:0.1137:0.6167	.	900	Q01974	ROR2_HUMAN	T	900	ENSP00000364860:A900T	ENSP00000364860:A900T	A	-	1	0	ROR2	93525899	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.281000	0.08456	-0.336000	0.08438	-0.254000	0.11334	GCC		0.632	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			40	82	0	0	0	1	0	40	82					T	94486078	C	T	94486078	3	4	500	1	0	0	0	0	1	0	0	0	13527	768	27	1	137	1	ROR2	9	94486078	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		94486078	46727353	15	40106											
PTEN	5728	broad.mit.edu	37	chr10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaaagggacgaactgGtgtaatgatatgtgcatatt	13	4	0	1	rs121909241		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		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.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(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)		GGACGAACTGGTGTAATGATA	0.398		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)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(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	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241	c.(394-396)gGt>gAt		phosphatase and tensin homolog							137	127	130					10																	89692911		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	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.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692911G>A	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.395G>A	10.37:g.89692911G>A	ENSP00000361021:p.Gly132Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G132D	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	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)	5	1752	+		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)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.395G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103845	0.94245	.	.	ENSG00000171862	ENST00000371953	D	0.99563	-6.17	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	9	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	D	132	ENSP00000361021:G132D	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	42	0	0	0	1	0	33	42					A	89692911	G	A	89692911	3	1	500	1	0	0	0	0	1	0	0	0	12738	1261	44	2	413	2	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		89692911	45841836	16	40107											
XPNPEP1	7511	broad.mit.edu	37	chr10	111637761	111637761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaatggatccttacctgCgaaactcctcagctttgtca	6	14	2	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:111637761C>T	ENST00000502935.1	-	13	1357	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R370H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.R370H(1)		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)		TCCTTACCTGCGAAACTCCTC	0.463																																						ENST00000369680.4																			1	Substitution - Missense(1)	p.R370H(1)	large_intestine(1)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1108-1110)cGc>cAc		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							100	98	99					10																	111637761		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111637761C>T		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.1238G>A	10.37:g.111637761C>T	ENSP00000421566:p.Arg413His					XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.R413H	p.R370H	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	13	1357	-		Breast(234;0.174)	370						Missense_Mutation	SNP	ENST00000502935.1	37	c.1109G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	32	5.190773	0.94923	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.77	5.77	0.91146	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.936;0.972	D	0.93727	0.7038	10	0.87932	D	0	.	17.7656	0.88476	0.0:1.0:0.0:0.0	.	413;413;370	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	H	413;299;413;370	ENSP00000421566:R413H;ENSP00000358697:R299H;ENSP00000324011:R413H;ENSP00000358694:R370H	ENSP00000324011:R413H	R	-	2	0	XPNPEP1	111627751	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.887000	0.75616	2.729000	0.93468	0.467000	0.42956	CGC		0.463	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			4	66	0	0	0	1	0	4	66					T	111637761	C	T	111637761	3	4	500	1	0	0	0	0	1	0	0	0	17439	768	27	1	798	1	XPNPEP1	10	111637761	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	21944850	111637761	23896986	17	40108											
CDHR5	53841	broad.mit.edu	37	chr11	618738	618738	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcggctgagaggttccTgcctctggggtctgtgctgt	16	10	2	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:618738T>C	ENST00000358353.3	-	14	2143	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.A607A|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	607	4 X 31 AA approximate tandem repeats.				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						GAGAGGTTCCTGCCTCTGGGG	0.662																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1819-1821)gcA>gcG		cadherin-related family member 5							109	117	114					11																	618738		2202	4300	6502	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618738T>C	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.1821A>G	11.37:g.618738T>C						CDHR5_ENST00000397542.2_Silent_p.A607A|CDHR5_ENST00000349570.7_Intron	p.A607A			Q9HBB8	CDHR5_HUMAN			14	2143	-			607			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.1821A>G	CCDS7707.1																																																																																				0.662	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		57	109	0	0	0	1	0	57	109					C	618738	T	C	618738	2	2	500	1	0	0	0	0	0	0	0	1	3122	1567	55	3		3	CDHR5	11	618738	Silent	SNP	T	TCGA-VM-A8CD-01A-11D-A36O-08		618738	134387778	18	40109											
SPTBN2	6712	broad.mit.edu	37	chr11	66455772	66455772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctttcgctccttctccCgctcctctagctgtcaaaaa	4	16	4	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:66455772C>T	ENST00000533211.1	-	32	6573	c.6242G>A	c.(6241-6243)cGg>cAg	p.R2081Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2081					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						ctccttctcccgctccTCTAG	0.567																																						ENST00000533211.1																			0				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						c.(6241-6243)cGg>cAg		spectrin, beta, non-erythrocytic 2							17	17	17					11																	66455772		2197	4291	6488	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66455772C>T	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.6242G>A	11.37:g.66455772C>T	ENSP00000432568:p.Arg2081Gln					SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q	p.R2081Q			O15020	SPTN2_HUMAN			32	6573	-			2081					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6242G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299526	0.40694	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.70869	-0.52;-0.52;-0.52	5.52	3.29	0.37713	.	0.370798	0.27807	N	0.017771	T	0.46464	0.1394	N	0.17631	0.505	0.30554	N	0.765175	B	0.14012	0.009	B	0.11329	0.006	T	0.24476	-1.0159	10	0.22706	T	0.39	.	1.3118	0.02099	0.3457:0.2658:0.0:0.3885	.	2081	O15020	SPTN2_HUMAN	Q	2081;2081;2081;625	ENSP00000432568:R2081Q;ENSP00000311489:R2081Q;ENSP00000433593:R2081Q	ENSP00000311489:R2081Q	R	-	2	0	SPTBN2	66212348	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.025000	0.30090	1.246000	0.43901	0.655000	0.94253	CGG		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	8	0	0	0	1	0	5	8					T	66455772	C	T	66455772	3	4	500	1	0	0	0	0	1	0	0	0	15119	652	23	1	958	1	SPTBN2	11	66455772	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	65837034	66455772	68550744	19	40110											
MLL	4297	broad.mit.edu	37	chr11	118307414	118307416	+	In_Frame_Del	DEL	GCG	GCG	-													cccccccggctgtggcggccGcggcggcggcggcgggaagc							TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:118307414_118307416delGCG	ENST00000389506.5	+	1	187_189	c.187_189delGCG	c.(187-189)gcgdel	p.A67del	RP11-770J1.4_ENST00000532619.1_5'Flank|KMT2A_ENST00000534358.1_In_Frame_Del_p.A67del|KMT2A_ENST00000354520.4_In_Frame_Del_p.A67del			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	67	Ala/Gly/Ser-rich.				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)										tgtggcggccgcggcggcggcgg	0.813																																						ENST00000534358.1																			0											c.(187-189)del		lysine (K)-specific methyltransferase 2A			,	7,1077		1,5,536					,	0.3	1			3	34,2792		5,24,1384	no	coding,coding	MLL	NM_005933.3,NM_001197104.1	,	6,29,1920	A1A1,A1R,RR		1.2031,0.6458,1.0486	,	,		41,3869				SO:0001651	inframe_deletion	4297							g.chr11:118307414_118307416delGCG	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.187_189delGCG	11.37:g.118307423_118307425delGCG	ENSP00000374157:p.Ala67del					KMT2A_ENST00000389506.5_In_Frame_Del_p.A67del|KMT2A_ENST00000354520.4_In_Frame_Del_p.A67del	p.A67del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					1	210_212	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	In_Frame_Del	DEL	ENST00000389506.5	37	c.187_189delGCG	CCDS31686.1																																																																																				0.813	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		2	4						2	4	---	---	---	---	-	118307416	GCG	-	118307414	7	5	500	1	0	1	0	1	0	0	0	0	9620	1087	38	0	189	0	MLL	11	118307414	In_Frame_Del	DEL	GCG	TCGA-VM-A8CD-01A-11D-A36O-08	51851642	118307414	16699102	20	40111											
LYRM5	144363	broad.mit.edu	37	chr12	25357118	25357118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaacaaagatgtgaagaatCcagagaagatcaaagaactt	8	5	1	6			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:25357118C>A	ENST00000381356.4	+	3	304	c.145C>A	c.(145-147)Cca>Aca	p.P49T	LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000557540.2_Missense_Mutation_p.P47T|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	49						mitochondrion (GO:0005739)				large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			TGTGAAGAATCCAGAGAAGAT	0.363																																						ENST00000557540.2																			0				large_intestine(3)	3						c.(139-141)Cca>Aca		LYR motif containing 5							42	40	40					12																	25357118		1823	4074	5897	SO:0001583	missense	144363							g.chr12:25357118C>A	AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"LYR motif containing"	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.145C>A	12.37:g.25357118C>A	ENSP00000370761:p.Pro49Thr					LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000381356.4_Missense_Mutation_p.P49T	p.P47T			Q6IPR1	LYRM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)		3	308	+	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		47					J3KPI7	Missense_Mutation	SNP	ENST00000381356.4	37	c.139C>A	CCDS53764.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265012	0.80358	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.88	5.0	0.66597	.	0.094628	0.85682	D	0.000000	D	0.85779	0.5776	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.87451	0.2401	9	0.62326	D	0.03	.	14.2339	0.65911	0.0:0.9287:0.0:0.0713	.	47	Q6IPR1	LYRM5_HUMAN	T	47;49;47;47;47	ENSP00000450584:P47T;ENSP00000370761:P49T;ENSP00000451494:P47T;ENSP00000452146:P47T;ENSP00000450443:P47T	ENSP00000370761:P49T	P	+	1	0	LYRM5	25248385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.422000	0.80217	1.487000	0.48415	0.655000	0.94253	CCA		0.363	LYRM5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001001660		16	27	1	0	3.45872e-05	1	3.53732e-05	16	27					A	25357118	C	A	25357118	3	1	500	1	0	0	0	0	1	0	0	0	9122	855	30	4	151	4	LYRM5	12	25357118	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		25357118	108494777	21	40112											
RPAP3	79657	broad.mit.edu	37	chr12	48063934	48063934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctattttcaatactttTgctcttggagtatcacttgt	5	8	5	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:48063934T>C	ENST00000005386.3	-	13	1597	c.1482A>G	c.(1480-1482)gcA>gcG	p.A494A	RPAP3_ENST00000432584.3_Silent_p.A335A|RPAP3_ENST00000380650.4_Silent_p.A460A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	494										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCAATACTTTTGCTCTTGGAG	0.383																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1480-1482)gcA>gcG		RNA polymerase II associated protein 3							180	170	173					12																	48063934		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48063934T>C	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1482A>G	12.37:g.48063934T>C						RPAP3_ENST00000380650.4_Silent_p.A460A|RPAP3_ENST00000432584.3_Silent_p.A335A	p.A494A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			13	1597	-	Lung SC(27;0.192)		494					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.1482A>G	CCDS8753.1																																																																																				0.383	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		35	77	0	0	0	1	0	35	77					C	48063934	T	C	48063934	2	2	500	1	0	0	0	0	0	0	0	1	13543	1799	63	3		3	RPAP3	12	48063934	Silent	SNP	T	TCGA-VM-A8CD-01A-11D-A36O-08	22706816	48063934	85787961	22	40113											
NPAS3	64067	broad.mit.edu	37	chr14	34243682	34243682	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcagaattgactgccAtatgttcgtcactcgagtaa	9	8	2	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:34243682A>C	ENST00000356141.4	+	8	992	c.992A>C	c.(991-993)cAt>cCt	p.H331P	NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P|NPAS3_ENST00000346562.2_Missense_Mutation_p.H299P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	331	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		ATTGACTGCCATATGTTCGTC	0.468																																						ENST00000346562.2																			0				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						c.(895-897)cAt>cCt		neuronal PAS domain protein 3							185	155	165					14																	34243682		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34243682A>C	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.992A>C	14.37:g.34243682A>C	ENSP00000348460:p.His331Pro					NPAS3_ENST00000356141.4_Missense_Mutation_p.H331P|NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P	p.H299P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	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)	7	970	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		331					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.896A>C	CCDS53891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.39|16.39	3.109291|3.109291	0.56398|0.56398	.|.	.|.	ENSG00000151322|ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798|ENST00000552874	T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58|.	5.93|5.93	5.93|5.93	0.95920|0.95920	PAS (1);|.	0.054129|.	0.85682|.	D|.	0.000000|.	T|T	0.55081|0.55081	0.1898|0.1898	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.24882|.	0.113;0.069;0.113;0.113|.	B;B;B;B|.	0.30251|.	0.113;0.053;0.113;0.113|.	T|T	0.51395|0.51395	-0.8711|-0.8711	10|5	0.56958|.	D|.	0.05|.	.|.	16.3943|16.3943	0.83563|0.83563	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;331;299;318|.	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3|.	.;NPAS3_HUMAN;.;.|.	P|L	308;336;299;301;331;318|78	ENSP00000448373:H308P;ENSP00000450392:H336P;ENSP00000319610:H299P;ENSP00000448916:H301P;ENSP00000348460:H331P;ENSP00000350446:H318P|.	ENSP00000319610:H299P|.	H|I	+|+	2|1	0|0	NPAS3|NPAS3	33313433|33313433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.307000|9.307000	0.96226|0.96226	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.468	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			37	63	0	0	0	1	0	37	63					C	34243682	A	C	34243682	3	2	500	1	0	0	0	0	1	0	0	0	10564	217	8	5	1077	5	NPAS3	14	34243682	Missense_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08		34243682	73105858	23	40114											
NDNL2	56160	broad.mit.edu	37	chr15	29561310	29561310	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acccctaagcgccgcagaaaGtcccaggcttcagtttcctt	8	15	1	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:29561310G>C	ENST00000332303.4	-	1	723	c.600C>G	c.(598-600)gaC>gaG	p.D200E	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	200	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGCAGAAAGTCCCAGGCTT	0.517																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(598-600)gaC>gaG		necdin-like 2							45	48	47					15																	29561310		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561310G>C	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.600C>G	15.37:g.29561310G>C	ENSP00000330694:p.Asp200Glu					FAM189A1_ENST00000261275.4_Intron	p.D200E	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	723	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	200			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.600C>G	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	3.408	-0.120735	0.06838	.	.	ENSG00000185115	ENST00000332303	T	0.04049	3.72	4.1	2.21	0.28008	.	0.180338	0.47455	D	0.000236	T	0.01730	0.0055	N	0.03177	-0.4	0.30076	N	0.809604	B	0.15930	0.015	B	0.23716	0.048	T	0.45279	-0.9272	10	0.02654	T	1	.	5.5865	0.17277	0.1079:0.2021:0.6901:0.0	.	200	Q96MG7	MAGG1_HUMAN	E	200	ENSP00000330694:D200E	ENSP00000330694:D200E	D	-	3	2	NDNL2	27348602	1.000000	0.71417	0.986000	0.45419	0.921000	0.55340	1.727000	0.38095	0.671000	0.31185	0.563000	0.77884	GAC		0.517	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		22	40	0	0	0	1	0	22	40					C	29561310	G	C	29561310	3	2	500	1	0	0	0	0	1	0	0	0	10248	1020	36	4	318	4	NDNL2	15	29561310	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		29561310	72970082	24	40115											
AKAP13	11214	broad.mit.edu	37	chr15	86287023	86287025	+	In_Frame_Del	DEL	AAG	AAG	-													aggaaaagaaggagaaaaaaAagaagaacaaaaccagccgc							TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:86287023_86287025delAAG	ENST00000394518.2	+	36	8454_8456	c.8359_8361delAAG	c.(8359-8361)aagdel	p.K2788del	AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2788	Interaction with ESR1.|Poly-Lys.				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						GGAGAAAAAAAAGAAGAACAAAA	0.527																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				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						c.(8359-8361)del		A kinase (PRKA) anchor protein 13																																				SO:0001651	inframe_deletion	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287023_86287025delAAG	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.8359_8361delAAG	15.37:g.86287026_86287028delAAG	ENSP00000378026:p.Lys2788del					AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000560579.1_3'UTR	p.K2788del	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8454_8456	+			2788			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	In_Frame_Del	DEL	ENST00000394518.2	37	c.8359_8361delAAG	CCDS32319.1																																																																																				0.527	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		8	48						8	48	---	---	---	---	-	86287025	AAG	-	86287023	7	5	500	1	0	1	0	1	0	0	0	0	449	15	1	0	8567	0	AKAP13	15	86287023	In_Frame_Del	DEL	AAG	TCGA-VM-A8CD-01A-11D-A36O-08	56725713	86287023	16244369	25	40116											
CACNG3	10368	broad.mit.edu	37	chr16	24373179	24373179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggcgcaccacgcccGtctgaactgacctctgacct	8	18	2	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:24373179G>A	ENST00000005284.3	+	4	2145	c.943G>A	c.(943-945)Gtc>Atc	p.V315I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V315I(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACCACGCCCGTCTGAACTGA	0.552																																						ENST00000005284.3																			2	Substitution - Missense(2)	p.V315I(2)	NS(1)|endometrium(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(943-945)Gtc>Atc		calcium channel, voltage-dependent, gamma subunit 3							37	39	38					16																	24373179		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373179G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.943G>A	16.37:g.24373179G>A	ENSP00000005284:p.Val315Ile						p.V315I	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2145	+			315						Missense_Mutation	SNP	ENST00000005284.3	37	c.943G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.660745	0.88154	.	.	ENSG00000006116	ENST00000005284	T	0.66099	-0.19	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.80832	-0.1206	10	0.72032	D	0.01	.	17.8078	0.88607	0.0:0.0:1.0:0.0	.	315	O60359	CCG3_HUMAN	I	315	ENSP00000005284:V315I	ENSP00000005284:V315I	V	+	1	0	CACNG3	24280680	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.472000	0.97709	2.266000	0.75297	0.645000	0.84053	GTC		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		13	32	0	0	0	1	0	13	32					A	24373179	G	A	24373179	3	1	500	1	0	0	0	0	1	0	0	0	2558	1145	40	1	957	1	CACNG3	16	24373179	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		24373179	65981574	26	40117											
MYH1	4619	broad.mit.edu	37	chr17	10419305	10419305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggtggggcctcctggCgctttttgcctcggtaggct	17	10	0	0	rs542085416		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:10419305C>T	ENST00000226207.5	-	5	537	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	148	Myosin motor.				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)	p.R148H(1)		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						GGCCTCCTGGCGCTTTTTGCC	0.502													.|||	1	0.000199681	0.0	0.0	5008	,	,		16387	0.0		0.0	False		,,,				2504	0.001					ENST00000226207.5																			1	Substitution - Missense(1)	p.R148H(1)	endometrium(1)	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						c.(442-444)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							151	153	152					17																	10419305		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419305C>T		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.443G>A	17.37:g.10419305C>T	ENSP00000226207:p.Arg148His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R148H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			5	537	-			148			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.443G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409836	0.96072	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88354	-2.37	5.74	5.74	0.90152	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000622	D	0.96466	0.8847	H	0.95402	3.665	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	D	0.97133	0.9819	10	0.87932	D	0	.	19.9212	0.97085	0.0:1.0:0.0:0.0	.	148	P12882	MYH1_HUMAN	H	148	ENSP00000226207:R148H	ENSP00000226207:R148H	R	-	2	0	MYH1	10360030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.697000	0.92050	0.655000	0.94253	CGC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		36	94	0	0	0	1	0	36	94					T	10419305	C	T	10419305	3	4	500	1	0	0	0	0	1	0	0	0	10029	768	27	1	5520	1	MYH1	17	10419305	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		10419305	70775905	27	40118											
NF1	4763	broad.mit.edu	37	chr17	29486037	29486037	+	Frame_Shift_Del	DEL	G	G	-													ttttctgttagagaatatttGgagaagctgctgaaaaaaat							TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:29486037delG	ENST00000358273.4	+	3	597	c.214delG	c.(214-216)ggafs	p.G72fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	72					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.?(4)	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)		GAGAATATTTGGAGAAGCTGC	0.318			"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)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(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						c.(214-216)gafs		neurofibromin 1							53	58	57					17																	29486037		2202	4299	6501	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29486037delG		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.214delG	17.37:g.29486037delG	ENSP00000351015:p.Gly72fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		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)	3	597	+		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)	72					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.214delG	CCDS42292.1																																																																																				0.318	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	16						18	16	---	---	---	---	-	29486037	G	-	29486037	7	5	500	1	0	1	0	1	0	0	0	0	10356	1349	47	0	224	0	NF1	17	29486037	Frame_Shift_Del	DEL	G	TCGA-VM-A8CD-01A-11D-A36O-08	19066732	29486037	51709173	28	40119											
SPATA20	64847	broad.mit.edu	37	chr17	48631681	48631681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccggctgcatggcttcaCgggccacaaggactggatgg	15	12	1	0	rs147500920		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:48631681C>T	ENST00000356488.4	+	14	2062	c.1979C>T	c.(1978-1980)aCg>aTg	p.T660M	SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.T676M|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	660					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)			CATGGCTTCACGGGCCACAAG	0.642																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2026-2028)aCg>aTg		spermatogenesis associated 20							115	82	93					17																	48631681		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631681C>T		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.1979C>T	17.37:g.48631681C>T	ENSP00000348878:p.Thr660Met					SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000356488.4_Missense_Mutation_p.T660M	p.T676M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2147	+	Breast(11;1.23e-18)		660					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2027C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699577	0.68501	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.67171	-0.25;-0.25;-0.25	5.25	5.25	0.73442	.	0.179257	0.46758	D	0.000274	T	0.77961	0.4209	M	0.76838	2.35	0.44042	D	0.996774	P;D	0.56521	0.914;0.976	B;P	0.54140	0.326;0.743	T	0.77872	-0.2426	10	0.36615	T	0.2	-31.0473	18.8839	0.92367	0.0:1.0:0.0:0.0	.	660;676	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	M	676;660;616	ENSP00000006658:T676M;ENSP00000348878:T660M;ENSP00000376935:T616M	ENSP00000006658:T676M	T	+	2	0	SPATA20	45986680	0.998000	0.40836	0.949000	0.38748	0.896000	0.52359	3.747000	0.55134	2.467000	0.83353	0.561000	0.74099	ACG		0.642	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		3	40	0	0	0	1	0	3	40					T	48631681	C	T	48631681	3	4	500	1	0	0	0	0	1	0	0	0	15005	536	19	1	2085	1	SPATA20	17	48631681	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	19145644	48631681	32563529	29	40120											
LLGL2	3993	broad.mit.edu	37	chr17	73566103	73566103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtggagcaggtggaggcCgacctgctgcaggaccaaga	17	10	0	1	rs532394871		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:73566103C>T	ENST00000392550.3	+	15	1758	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	LLGL2_ENST00000167462.5_Silent_p.A547A|LLGL2_ENST00000577200.1_Silent_p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	547					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)			AGGTGGAGGCCGACCTGCTGC	0.667																																						ENST00000392550.3																			0				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						c.(1639-1641)gcC>gcT		lethal giant larvae homolog 2 (Drosophila)							34	33	33					17																	73566103		2202	4300	6502	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566103C>T	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.1641C>T	17.37:g.73566103C>T						LLGL2_ENST00000167462.5_Silent_p.A547A|LLGL2_ENST00000577200.1_Silent_p.A547A	p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	1758	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		547					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.1641C>T	CCDS32733.1																																																																																				0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		9	31	0	0	0	1	0	9	31					T	73566103	C	T	73566103	2	4	500	1	0	0	0	0	0	0	0	1	8834	639	23	1		1	LLGL2	17	73566103	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	24934422	73566103	7629107	30	40121											
PTPRM	5797	broad.mit.edu	37	chr18	8394606	8394606	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aagcccaacatggtcgacctCctggtaggacaccccctctg	9	16	1	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr18:8394606C>G	ENST00000332175.8	+	30	5339	c.4302C>G	c.(4300-4302)ctC>ctG	p.L1434L	PTPRM_ENST00000580170.1_Silent_p.L1447L|PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400060.4_Silent_p.L1448L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1434	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)				TGGTCGACCTCCTGGTAGGAC	0.527																																						ENST00000332175.8																			0				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						c.(4300-4302)ctC>ctG		protein tyrosine phosphatase, receptor type, M							83	66	72					18																	8394606		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8394606C>G	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.4302C>G	18.37:g.8394606C>G						PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000400060.4_Silent_p.L1448L|PTPRM_ENST00000580170.1_Silent_p.L1447L	p.L1434L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			30	5339	+		Colorectal(10;0.234)	1434			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4302C>G	CCDS11840.1																																																																																				0.527	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			8	22	0	0	0	1	0	8	22					G	8394606	C	G	8394606	2	3	500	1	0	0	0	0	0	0	0	1	12806	842	30	4		4	PTPRM	18	8394606	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		8394606	69682642	31	40122											
NR1H2	7376	broad.mit.edu	37	chr19	50882296	50882296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccccagtcccgagatgCccgccagcaacgctttgccc	9	19	0	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr19:50882296C>T	ENST00000253727.5	+	7	1020	c.785C>T	c.(784-786)gCc>gTc	p.A262V	NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	262	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)		TCCCGAGATGCCCGCCAGCAA	0.632																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(784-786)gCc>gTc		nuclear receptor subfamily 1, group H, member 2							63	74	71					19																	50882296		2144	4277	6421	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882296C>T	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.785C>T	19.37:g.50882296C>T	ENSP00000253727:p.Ala262Val					NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000542413.1_Intron	p.A262V	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	7	1020	+		all_neural(266;0.057)	262			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.785C>T	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758726	0.49468	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	D;D	0.96554	-4.05;-4.05	4.28	4.28	0.50868	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.64402	D	0.000013	D	0.90208	0.6939	N	0.04335	-0.225	0.80722	D	1	B;P	0.35328	0.058;0.495	B;B	0.36608	0.045;0.229	D	0.90024	0.4130	10	0.33940	T	0.23	.	15.9906	0.80202	0.0:1.0:0.0:0.0	.	262;165	P55055;E7EWA6	NR1H2_HUMAN;.	V	262;165;262	ENSP00000253727:A262V;ENSP00000396151:A165V	ENSP00000253727:A262V	A	+	2	0	NR1H2	55574108	0.998000	0.40836	0.932000	0.37286	0.996000	0.88848	3.490000	0.53245	2.386000	0.81285	0.561000	0.74099	GCC		0.632	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			4	122	0	0	0	1	0	4	122					T	50882296	C	T	50882296	3	4	500	1	0	0	0	0	1	0	0	0	10617	739	26	2	803	2	NR1H2	19	50882296	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		50882296	8246687	32	40123											
ZNFX1	57169	broad.mit.edu	37	chr20	47870232	47870232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccaatcaaaatgaggtGctggcaagctttgctcaatg	10	10	2	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:47870232G>A	ENST00000396105.1	-	11	3322	c.3076C>T	c.(3076-3078)Cac>Tac	p.H1026Y	ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1026							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAATGAGGTGCTGGCAAGCT	0.542																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3076-3078)Cac>Tac		zinc finger, NFX1-type containing 1							176	156	163					20																	47870232		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47870232G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3076C>T	20.37:g.47870232G>A	ENSP00000379412:p.His1026Tyr					ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y	p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	3322	-			1026					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3076C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189574	0.94923	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	D;D;D	0.82619	-1.63;-1.63;-1.63	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94026	0.7297	10	0.62326	D	0.03	-24.9338	18.9229	0.92532	0.0:0.0:1.0:0.0	.	1026	Q9P2E3	ZNFX1_HUMAN	Y	1026	ENSP00000360819:H1026Y;ENSP00000360817:H1026Y;ENSP00000379412:H1026Y	ENSP00000360817:H1026Y	H	-	1	0	ZNFX1	47303639	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.736000	0.98828	2.816000	0.96949	0.561000	0.74099	CAC		0.542	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		44	94	0	0	0	1	0	44	94					A	47870232	G	A	47870232	3	1	500	1	0	0	0	0	1	0	0	0	18202	1319	46	2	2696	2	ZNFX1	20	47870232	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		47870232	15155288	33	40124											
SON	6651	broad.mit.edu	37	chr21	34923110	34923110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgacaacggtggaacatCctgggcatcctgaggtgaca	14	9	0	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr21:34923110C>T	ENST00000356577.4	+	3	2048	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P525S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	525					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTGGAACATCCTGGGCATCC	0.597																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1573-1575)Cct>Tct		SON DNA binding protein							133	137	135					21																	34923110		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923110C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1573C>T	21.37:g.34923110C>T	ENSP00000348984:p.Pro525Ser					SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P525S|SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S	p.P525S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2048	+			525					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.1573C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339067	0.41398	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.25414	1.92;1.88;1.88;1.8	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000024	T	0.36110	0.0955	L	0.27053	0.805	0.29128	N	0.879826	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.08889	-1.0700	10	0.40728	T	0.16	.	13.3916	0.60827	0.0:1.0:0.0:0.0	.	525;525;525	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	S	525	ENSP00000348984:P525S;ENSP00000290239:P525S;ENSP00000300278:P525S;ENSP00000371095:P525S	ENSP00000290239:P525S	P	+	1	0	SON	33844980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.391000	0.59652	2.614000	0.88457	0.491000	0.48974	CCT		0.597	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		49	98	0	0	0	1	0	49	98					T	34923110	C	T	34923110	3	4	500	1	0	0	0	0	1	0	0	0	14926	855	30	2	1583	2	SON	21	34923110	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		34923110	13206785	34	40125											
SAP130	79595	broad.mit.edu	37	chr2	128744415	128744415	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgatgagccctgggcGggagcgttggtgctagcact	18	10	0	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:128744415G>C	ENST00000259235.3	-	14	2109	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	SAP130_ENST00000259234.6_Silent_p.P633P|SAP130_ENST00000357702.5_Silent_p.P660P	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	660					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)		AGCCCTGGGCGGGAGCGTTGG	0.572																																						ENST00000357702.5																			0				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						c.(1978-1980)ccC>ccG		Sin3A-associated protein, 130kDa							153	134	140					2																	128744415		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128744415G>C	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.1980C>G	2.37:g.128744415G>C						SAP130_ENST00000259234.6_Silent_p.P633P|SAP130_ENST00000259235.3_Silent_p.P660P	p.P660P	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	14	2111	-	Colorectal(110;0.1)		660					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1980C>G	CCDS2153.1																																																																																				0.572	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		28	66	0	0	0	1	0	28	66					C	128744415	G	C	128744415	2	2	501	1	0	0	0	0	0	0	0	1	13831	1103	39	4		4	SAP130	2	128744415	Silent	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		128744415	114454958	1	40126											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	71	0	0	0	1	0	26	71					T	209113112	C	T	209113112	3	4	501	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	80368697	209113112	34086261	2	40127											
PCDH10	57575	broad.mit.edu	37	chr4	134072585	134072585	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgggggactcctacacCctgactgtagtggctcggga	16	11	0	1	rs140875995	byFrequency	TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr4:134072585C>A	ENST00000264360.5	+	1	2116	c.1290C>A	c.(1288-1290)acC>acA	p.T430T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	430	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(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)		ACTCCTACACCCTGACTGTAG	0.587																																						ENST00000264360.4																			0				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						c.(1288-1290)acC>acA		protocadherin 10		C	,	0,4394		0,0,2197	112	127	122		1290,1290	0.4	1	4	dbSNP_134	122	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	PCDH10	NM_020815.1,NM_032961.1	,	0,2,6490	AA,AC,CC		0.0233,0.0,0.0154	,	430/897,430/1041	134072585	2,12982	2197	4295	6492	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072585C>A	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.1290C>A	4.37:g.134072585C>A							p.T430T	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2116	+			430			Cadherin 4.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1290C>A	CCDS34063.1																																																																																				0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	139	1	0	9.05144e-12	1	9.76603e-12	12	139					A	134072585	C	A	134072585	2	1	501	1	0	0	0	0	0	0	0	1	11507	610	22	4		4	PCDH10	4	134072585	Silent	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		134072585	57081691	3	40128											
CMYA5	202333	broad.mit.edu	37	chr5	79029294	79029294	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatgaggaaacagcaagttCatctcctgagttggaaaatt	10	6	2	3			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr5:79029294C>A	ENST00000446378.2	+	2	4737	c.4706C>A	c.(4705-4707)tCa>tAa	p.S1569*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1569					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)		ACAGCAAGTTCATCTCCTGAG	0.408																																						ENST00000446378.2																			0				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						c.(4705-4707)tCa>tAa		cardiomyopathy associated 5							118	121	120					5																	79029294		1904	4125	6029	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79029294C>A	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.4706C>A	5.37:g.79029294C>A	ENSP00000394770:p.Ser1569*						p.S1569*	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4737	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1569					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.4706C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	41	8.915605	0.99002	.	.	ENSG00000164309	ENST00000446378	.	.	.	4.9	3.97	0.46021	.	1.181720	0.06122	N	0.669078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.671	0.40013	0.2073:0.7926:0.0:0.0	.	.	.	.	X	1569	.	ENSP00000394770:S1569X	S	+	2	0	CMYA5	79065050	0.007000	0.16637	0.162000	0.22713	0.031000	0.12232	0.560000	0.23500	2.275000	0.75901	0.655000	0.94253	TCA		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	130	1	0	1	1	1	5	130					A	79029294	C	A	79029294	4	1	501	1	0	0	0	0	0	1	0	0	3590	838	29	4	4712	4	CMYA5	5	79029294	Nonsense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		79029294	101885966	4	40129											
MAP3K4	4216	broad.mit.edu	37	chr6	161530825	161530825	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagtactgcgatgagggGactttagaagaggtgtcaag	16	4	1	3			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr6:161530825G>A	ENST00000392142.4	+	23	4423	c.4275G>A	c.(4273-4275)ggG>ggA	p.G1425G	MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000366920.2_Silent_p.G1421G|MAP3K4_ENST00000348824.7_Silent_p.G1371G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGATGAGGGGACTTTAGAAG	0.463																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4273-4275)ggG>ggA		mitogen-activated protein kinase kinase kinase 4							148	131	137					6																	161530825		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161530825G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4275G>A	6.37:g.161530825G>A						MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000348824.7_Silent_p.G1371G|MAP3K4_ENST00000366920.2_Silent_p.G1421G	p.G1425G	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4423	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1425			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4275G>A	CCDS34565.1																																																																																				0.463	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			22	47	0	0	0	1	0	22	47					A	161530825	G	A	161530825	2	1	501	1	0	0	0	0	0	0	0	1	9252	1161	41	2		2	MAP3K4	6	161530825	Silent	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		161530825	9584242	5	40130											
TRPM6	140803	broad.mit.edu	37	chr9	77442828	77442828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgagtgttgtgagcttgCtgagggggttatccagagtc	16	5	0	4			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:77442828C>T	ENST00000360774.1	-	7	944	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000451710.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	236					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						TGTGAGCTTGCTGAGGGGGTT	0.537																																						ENST00000451710.3																			0				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						c.(706-708)aGc>aAc		transient receptor potential cation channel, subfamily M, member 6							171	152	158					9																	77442828		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442828C>T	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.707G>A	9.37:g.77442828C>T	ENSP00000354006:p.Ser236Asn					TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000360774.1_Missense_Mutation_p.S236N|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N	p.S236N			Q9BX84	TRPM6_HUMAN			7	944	-			236					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.707G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159374	0.94686	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;4.07	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.993;0.976	T	0.78084	-0.2342	10	0.87932	D	0	.	18.389	0.90475	0.0:1.0:0.0:0.0	.	236;236;236;236;236;231	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	N	236;236;236;236;231;231;235;236;236	ENSP00000354006:S236N;ENSP00000407341:S236N;ENSP00000366068:S236N;ENSP00000366067:S236N;ENSP00000396672:S231N;ENSP00000354962:S231N;ENSP00000366060:S236N;ENSP00000351942:S236N	ENSP00000351942:S236N	S	-	2	0	TRPM6	76632648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.406000	0.81754	0.591000	0.81541	AGC		0.537	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		20	44	0	0	0	1	0	20	44					T	77442828	C	T	77442828	3	4	501	1	0	0	0	0	1	0	0	0	16587	797	28	2	5493	2	TRPM6	9	77442828	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		77442828	63770603	6	40131											
SVEP1	79987	broad.mit.edu	37	chr9	113170819	113170819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaggggccttgcaggAcatgcccttctttacaggaa	13	10	1	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:113170819A>G	ENST00000401783.2	-	38	7397	c.7061T>C	c.(7060-7062)gTc>gCc	p.V2354A	SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A|SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2354	Sushi 16. {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						GCCTTGCAGGACATGCCCTTC	0.498																																						ENST00000401783.2																			0				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						c.(7060-7062)gTc>gCc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56	55	55					9																	113170819		1906	4126	6032	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170819A>G	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.7061T>C	9.37:g.113170819A>G	ENSP00000384917:p.Val2354Ala					SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A|SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A	p.V2354A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7397	-			2354			Sushi 16.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7061T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.546401	0.00926	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.65549	-0.16;-0.16;-0.16	5.8	-2.58	0.06228	Complement control module (2);Sushi/SCR/CCP (3);	0.459896	0.25726	N	0.028702	T	0.48768	0.1518	L	0.60845	1.875	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.47699	-0.9097	10	0.06494	T	0.89	.	12.7962	0.57560	0.8126:0.0:0.1874:0.0	.	2354	Q4LDE5	SVEP1_HUMAN	A	2354;2331;280;26	ENSP00000384917:V2354A;ENSP00000363593:V2331A;ENSP00000297826:V280A	ENSP00000297826:V280A	V	-	2	0	SVEP1	112210640	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.965000	0.29319	-0.339000	0.08401	-0.242000	0.12053	GTC		0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	23	0	0	0	1	0	9	23					G	113170819	A	G	113170819	3	3	501	1	0	0	0	0	1	0	0	0	15417	275	10	3	3698	3	SVEP1	9	113170819	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08	35727991	113170819	28042612	7	40132											
DIP2C	22982	broad.mit.edu	37	chr10	436251	436251	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctttaatgtgtgggaaccAgtctcggggcggtttggaga	15	6	2	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr10:436251A>T	ENST00000280886.6	-	12	1534	c.1447T>A	c.(1447-1449)Tgg>Agg	p.W483R	DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	483						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGAACCAGTCTCGGGGC	0.483																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1447-1449)Tgg>Agg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							132	128	130					10																	436251		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:436251A>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1447T>A	10.37:g.436251A>T	ENSP00000280886:p.Trp483Arg					DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R	p.W483R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	12	1534	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	483					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1447T>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623297	0.87460	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.44083	0.93;0.93	5.67	5.67	0.87782	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.85859	2.78	0.58432	D	0.999999	D;B	0.71674	0.998;0.389	D;P	0.77004	0.989;0.507	T	0.66424	-0.5927	10	0.20519	T	0.43	-20.1553	15.9001	0.79365	1.0:0.0:0.0:0.0	.	376;483	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	R	483;376	ENSP00000280886:W483R;ENSP00000370907:W376R	ENSP00000280886:W483R	W	-	1	0	DIP2C	426251	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.287000	0.95975	2.162000	0.67917	0.383000	0.25322	TGG		0.483	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		3	82	0	0	0	1	0	3	82					T	436251	A	T	436251	3	4	501	1	0	0	0	0	1	0	0	0	4529	188	7	5	3327	5	DIP2C	10	436251	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08		436251	135098496	8	40133											
OR5M1	390168	broad.mit.edu	37	chr11	56380102	56380102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggattacatctgtgttccGtaggctatagatcaatgggt	11	6	2	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:56380102G>A	ENST00000526538.1	-	1	876	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293						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(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTGTGTTCCGTAGGCTATAG	0.403																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(877-879)Cgg>Tgg		olfactory receptor, family 5, subfamily M, member 1							178	174	175					11																	56380102		1844	4100	5944	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380102G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.877C>T	11.37:g.56380102G>A	ENSP00000435416:p.Arg293Trp						p.R293W	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	876	-			293					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.877C>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580695	0.28180	.	.	ENSG00000255012	ENST00000526538	T	0.41065	1.01	3.71	2.55	0.30701	.	.	.	.	.	T	0.45115	0.1326	M	0.79805	2.47	0.09310	N	1	B	0.29378	0.243	B	0.27715	0.082	T	0.40175	-0.9577	9	0.87932	D	0	.	9.7622	0.40539	0.0:0.0:0.3308:0.6692	.	293	Q8NGP8	OR5M1_HUMAN	W	293	ENSP00000435416:R293W	ENSP00000435416:R293W	R	-	1	2	OR5M1	56136678	0.000000	0.05858	0.506000	0.27664	0.138000	0.21146	-0.012000	0.12699	0.082000	0.17018	-3.265000	0.00048	CGG		0.403	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		10	170	0	0	0	1	0	10	170					A	56380102	G	A	56380102	3	1	501	1	0	0	0	0	1	0	0	0	11172	1144	40	1	74	1	OR5M1	11	56380102	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		56380102	78626414	9	40134											
EI24	9538	broad.mit.edu	37	chr11	125453434	125453434	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtctcttccagttgcgcctCttctccttggtggtcttctt	8	13	5	0			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:125453434C>G	ENST00000343678.4	+	11	1006	c.764C>G	c.(763-765)tCt>tGt	p.S255C	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	0					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	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;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGTTGCGCCTCTTCTCCTTGG	0.448																																						ENST00000343678.4																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(763-765)tCt>tGt		etoposide induced 2.4							74	72	73					11																	125453434		1904	4131	6035	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125453434C>G	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 4 homolog (C. elegans)"	605170	"etoposide induced 2.4 mRNA"			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000343678.4:c.764C>G	11.37:g.125453434C>G	ENSP00000364081:p.Ser255Cys					EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L	p.S255C	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	11	1006	+	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)	0					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000343678.4	37	c.764C>G		.	.	.	.	.	.	.	.	.	.	C	12.94	2.088635	0.36855	.	.	ENSG00000149547	ENST00000343678	.	.	.	5.21	1.03	0.20045	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.21675	N	0.999599	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.62326	D	0.03	.	12.4131	0.55478	0.1209:0.5296:0.3495:0.0	.	255	A6NES3	.	C	255	.	ENSP00000364081:S255C	S	+	2	0	EI24	124958644	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.704000	0.25661	-0.063000	0.13065	0.655000	0.94253	TCT		0.448	EI24-202	KNOWN	basic	protein_coding	protein_coding		NM_004879		6	13	0	0	0	1	0	6	13					G	125453434	C	G	125453434	3	3	501	1	0	0	0	0	1	0	0	0	4985	913	32	4	916	4	EI24	11	125453434	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	69073332	125453434	9553082	10	40135											
NBEA	26960	broad.mit.edu	37	chr13	35738505	35738505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattttagccattctacaaaGtctgtaatggattttgtcaa	6	6	3	0			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr13:35738505G>T	ENST00000400445.3	+	24	4626	c.4092G>T	c.(4090-4092)aaG>aaT	p.K1364N	NBEA_ENST00000540320.1_Missense_Mutation_p.K1364N|NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1364					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)		ATTCTACAAAGTCTGTAATGG	0.289																																						ENST00000540320.1																			0				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						c.(4090-4092)aaG>aaT		neurobeachin							74	67	69					13																	35738505		1816	4084	5900	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35738505G>T	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.4092G>T	13.37:g.35738505G>T	ENSP00000383295:p.Lys1364Asn					NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N|NBEA_ENST00000400445.3_Missense_Mutation_p.K1364N	p.K1364N			Q8NFP9	NBEA_HUMAN		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)	24	4626	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1364					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.4092G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508971	0.64410	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.77	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.56280	1.765	0.80722	D	1	B;P	0.37824	0.384;0.609	B;B	0.40659	0.159;0.336	T	0.53514	-0.8428	10	0.54805	T	0.06	.	10.4572	0.44557	0.2072:0.0:0.7928:0.0	.	1364;1364	Q8NFP9;Q5T321	NBEA_HUMAN;.	N	1364;1364;1364;1364;26	ENSP00000440951:K1364N;ENSP00000383295:K1364N;ENSP00000369271:K1364N;ENSP00000308534:K1364N	ENSP00000308534:K1364N	K	+	3	2	NBEA	34636505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.371000	0.34250	1.583000	0.49898	0.655000	0.94253	AAG		0.289	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	11	1	0	0.004672	1	0.00491159	3	11					T	35738505	G	T	35738505	3	4	501	1	0	0	0	0	1	0	0	0	10187	1020	36	4	4186	4	NBEA	13	35738505	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		35738505	79431373	11	40136											
PRSS53	339105	broad.mit.edu	37	chr16	31098181	31098181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgctgcagagaacccAggaccactgaccaggaattc	9	15	1	2			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:31098181A>G	ENST00000280606.6	-	4	434	c.281T>C	c.(280-282)cTg>cCg	p.L94P		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	94	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CAGAGAACCCAGGACCACTGA	0.612																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(280-282)cTg>cCg		protease, serine, 53							42	44	43					16																	31098181		2067	4216	6283	SO:0001583	missense	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098181A>G		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.281T>C	16.37:g.31098181A>G	ENSP00000280606:p.Leu94Pro						p.L94P	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			4	434	-			94			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000280606.6	37	c.281T>C	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284536	0.59867	.	.	ENSG00000151006	ENST00000280606	D	0.91011	-2.77	5.75	5.75	0.90469	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.29362	U	0.012361	D	0.96106	0.8731	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96789	0.9581	10	0.87932	D	0	.	13.5751	0.61868	1.0:0.0:0.0:0.0	.	94	Q2L4Q9	PRS53_HUMAN	P	94	ENSP00000280606:L94P	ENSP00000280606:L94P	L	-	2	0	PRSS53	31005682	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	5.552000	0.67281	2.196000	0.70406	0.533000	0.62120	CTG		0.612	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	44	0	0	0	1	0	3	44					G	31098181	A	G	31098181	3	3	501	1	0	0	0	0	1	0	0	0	12632	188	7	3	1412	3	PRSS53	16	31098181	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08		31098181	59256572	12	40137											
NAE1	8883	broad.mit.edu	37	chr16	66842495	66842495	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtacaacactatttcattaTctggattgtccatgctagaa	6	8	2	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:66842495T>A	ENST00000290810.3	-	17	1356	c.1259A>T	c.(1258-1260)gAt>gTt	p.D420V	NAE1_ENST00000379463.2_Missense_Mutation_p.D414V|NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	420					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTCATTATCTGGATTGTC	0.308																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1240-1242)gAt>gTt		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						106	113	111					16																	66842495		2200	4293	6493	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842495T>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1259A>T	16.37:g.66842495T>A	ENSP00000290810:p.Asp420Val					NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000290810.3_Missense_Mutation_p.D420V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V	p.D414V	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	18	1433	-		Ovarian(137;0.0563)	420					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1241A>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	7.218	0.596871	0.13875	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.69	4.58	0.56647	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.66439	2.03	0.80722	D	1	P;D;D	0.67145	0.818;0.996;0.975	P;P;P	0.61201	0.546;0.885;0.867	T	0.62177	-0.6909	10	0.44086	T	0.13	-8.4176	13.0238	0.58804	0.0:0.0:0.1346:0.8654	.	423;420;414	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	V	423;420;414;331	ENSP00000351990:D423V;ENSP00000290810:D420V;ENSP00000368776:D414V;ENSP00000377637:D331V	ENSP00000290810:D420V	D	-	2	0	NAE1	65399996	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.403000	0.79983	0.968000	0.38212	0.533000	0.62120	GAT		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		21	134	0	0	0	1	0	21	134					A	66842495	T	A	66842495	3	1	501	1	0	0	0	0	1	0	0	0	10139	1435	50	5	361	5	NAE1	16	66842495	Missense_Mutation	SNP	T	TCGA-VM-A8CE-01A-11D-A36O-08	35744314	66842495	23512258	13	40138											
KIAA0664	23277	broad.mit.edu	37	chr17	2601322	2601322	+	Frame_Shift_Del	DEL	G	G	-													cgggcaggaagttgaggtccGgggggaaggtgcgcagcagg					rs374090140		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:2601322delG	ENST00000570628.2	-	10	1820	c.1715delC	c.(1714-1716)ccgfs	p.P572fs	CLUH_ENST00000538975.1_Frame_Shift_Del_p.P572fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.P572fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	572					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.P572L(1)									GTTGAGGTCCGGGGGGAAGGT	0.692																																						ENST00000570628.1																			1	Substitution - Missense(1)	p.P572L(1)	large_intestine(1)								c.(1714-1716)cgfs		clustered mitochondria (cluA/CLU1) homolog							39	51	47					17																	2601322		2151	4250	6401	SO:0001589	frameshift_variant	23277							g.chr17:2601322delG	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.1715delC	17.37:g.2601322delG	ENSP00000458986:p.Pro572fs					CLUH_ENST00000435359.1_Frame_Shift_Del_p.P572fs|CLUH_ENST00000575014.1_Frame_Shift_Del_p.P504fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.P572fs	p.P572fs							10	1820	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	ENST00000570628.2	37	c.1715delC	CCDS45572.1																																																																																				0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		3	5						3	5	---	---	---	---	-	2601322	G	-	2601322	7	5	501	1	0	1	0	1	0	0	0	0	8189	1116	39	0	2282	0	KIAA0664	17	2601322	Frame_Shift_Del	DEL	G	TCGA-VM-A8CE-01A-11D-A36O-08		2601322	78593888	14	40139											
ZNF554	115196	broad.mit.edu	37	chr19	2834829	2834829	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggaaagcgttctaccagaaCagacatcttattggatatta	9	7	2	2			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:2834829C>G	ENST00000317243.5	+	5	1794	c.1596C>G	c.(1594-1596)aaC>aaG	p.N532K		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	532					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)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TCTACCAGAACAGACATCTTA	0.423																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1594-1596)aaC>aaG		zinc finger protein 554							63	63	63					19																	2834829		2066	4225	6291	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834829C>G	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1596C>G	19.37:g.2834829C>G	ENSP00000321132:p.Asn532Lys						p.N532K	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		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)	5	1794	+		Hepatocellular(1079;0.137)	532					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1596C>G	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	4.796	0.147924	0.09134	.	.	ENSG00000172006	ENST00000317243	T	0.58797	0.31	2.86	1.68	0.24146	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	N	0.03224	-0.385	0.09310	N	0.999994	B	0.25105	0.118	B	0.17098	0.017	T	0.18085	-1.0348	9	0.06236	T	0.91	.	8.678	0.34191	0.2262:0.7738:0.0:0.0	.	532	Q86TJ5	ZN554_HUMAN	K	532	ENSP00000321132:N532K	ENSP00000321132:N532K	N	+	3	2	ZNF554	2785829	.	.	0.048000	0.18961	0.005000	0.04900	.	.	1.615000	0.50252	0.643000	0.83706	AAC		0.423	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		27	62	0	0	0	1	0	27	62					G	2834829	C	G	2834829	3	3	501	1	0	0	0	0	1	0	0	0	17982	477	17	4	1614	4	ZNF554	19	2834829	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		2834829	56294154	15	40140											
MUC16	94025	broad.mit.edu	37	chr19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggatgaggtgaggtcaCggcaggtaaagacagcgggg	18	6	1	3			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	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.V7696M(2)|p.V3329M(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						GGTGAGGTCACGGCAGGTAAA	0.582																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.V7696M(2)|p.V3329M(1)	prostate(3)	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						c.(23086-23088)Gtg>Atg		mucin 16, cell surface associated							89	97	94					19																	9064360		2057	4189	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064360C>T	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.23086G>A	19.37:g.9064360C>T	ENSP00000381008:p.Val7696Met						p.V7696M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23289	-			7698			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23086G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.467	-0.560793	0.03939	.	.	ENSG00000181143	ENST00000397910	T	0.20069	2.1	2.22	-2.35	0.06684	.	.	.	.	.	T	0.09113	0.0225	N	0.12182	0.205	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	8	0.87932	D	0	.	1.0026	0.01480	0.1728:0.1825:0.1463:0.4985	.	7696	B5ME49	.	M	7696	ENSP00000381008:V7696M	ENSP00000381008:V7696M	V	-	1	0	MUC16	8925360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.741000	0.00191	-2.163000	0.00783	-2.597000	0.00163	GTG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	73	0	0	0	1	0	5	73					T	9064360	C	T	9064360	3	4	501	1	0	0	0	0	1	0	0	0	9973	536	19	1	20765	1	MUC16	19	9064360	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	6229531	9064360	50064623	16	40141											
DCAF15	90379	broad.mit.edu	37	chr19	14066828	14066828	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaggtcatcgtcttcggcttCaagtgagaccaggcgcctgg	13	11	3	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:14066828C>G	ENST00000254337.6	+	4	492	c.471C>G	c.(469-471)ttC>ttG	p.F157L	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	157					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCTTCGGCTTCAAGTGAGACC	0.662																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(469-471)ttC>ttG		DDB1 and CUL4 associated factor 15							57	55	56					19																	14066828		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14066828C>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.471C>G	19.37:g.14066828C>G	ENSP00000254337:p.Phe157Leu						p.F157L	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			4	492	+			157					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.471C>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	c	14.84	2.654637	0.47467	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.02	2.98	0.34508	.	0.000000	0.64402	D	0.000001	T	0.39200	0.1069	L	0.35414	1.06	0.80722	D	1	P	0.36837	0.571	B	0.39027	0.288	T	0.08146	-1.0736	9	0.13470	T	0.59	-22.9902	10.8601	0.46821	0.0:0.9038:0.0:0.0962	.	157	Q66K64	DCA15_HUMAN	L	157	.	ENSP00000254337:F157L	F	+	3	2	DCAF15	13927828	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.066000	0.41452	0.827000	0.34685	-0.258000	0.10820	TTC		0.662	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		3	55	0	0	0	1	0	3	55					G	14066828	C	G	14066828	3	3	501	1	0	0	0	0	1	0	0	0	4267	825	29	4	485	4	DCAF15	19	14066828	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	5002468	14066828	45062155	17	40142											
SF4	57794	broad.mit.edu	37	chr19	19416875	19416875	+	Frame_Shift_Del	DEL	G	G	-													ggaggggcgctgggcgcactGgtcggggcgtctggtataga							TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:19416875delG	ENST00000247001.5	-	4	668	c.321delC	c.(319-321)accfs	p.T107fs	SUGP1_ENST00000334782.5_Frame_Shift_Del_p.T107fs|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	107					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						TGGGCGCACTGGTCGGGGCGT	0.697																																						ENST00000247001.5																			0				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						c.(319-321)acfs		SURP and G patch domain containing 1							7	9	8					19																	19416875		2021	3950	5971	SO:0001589	frameshift_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19416875delG	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.321delC	19.37:g.19416875delG	ENSP00000247001:p.Thr107fs					SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Frame_Shift_Del_p.T107fs	p.T107fs	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			4	668	-			107					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Frame_Shift_Del	DEL	ENST00000247001.5	37	c.321delC	CCDS12399.1																																																																																				0.697	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		2	4						2	4	---	---	---	---	-	19416875	G	-	19416875	7	5	501	1	0	1	0	1	0	0	0	0	14155	1335	47	0	1660	0	SF4	19	19416875	Frame_Shift_Del	DEL	G	TCGA-VM-A8CE-01A-11D-A36O-08	5350047	19416875	39712108	18	40143											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	13	12	1	2			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000572681.2_Missense_Mutation_p.R1111W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		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)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	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						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63	67	66					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	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.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	29	0	0	0	1	0	6	29					T	42791718	C	T	42791718	3	4	501	1	0	0	0	0	1	0	0	0	3424	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	23374843	42791718	16337265	19	40144			1	56		3	2	40	N	G_C	2.519611e-05
CIC	23152	broad.mit.edu	37	chr19	42791752	42791752	+	Missense_Mutation	SNP	G	G	C													cttcatgatcttcagcaagcGgcaccgggccctggtccacc							TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791752G>C	ENST00000575354.2	+	5	678	c.638G>C	c.(637-639)cGg>cCg	p.R213P	CIC_ENST00000572681.2_Missense_Mutation_p.R1122P|CIC_ENST00000160740.3_Missense_Mutation_p.R213P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R213P(1)		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)				TTCAGCAAGCGGCACCGGGCC	0.617			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R213P(1)	central_nervous_system(1)	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						c.(3364-3366)cGg>cCg		capicua transcriptional repressor							65	66	65					19																	42791752		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791752G>C	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.638G>C	19.37:g.42791752G>C	ENSP00000458663:p.Arg213Pro					CIC_ENST00000575354.2_Missense_Mutation_p.R213P|CIC_ENST00000160740.3_Missense_Mutation_p.R213P	p.R1122P			Q96RK0	CIC_HUMAN			6	3433	+		Prostate(69;0.00682)	213			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3365G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310090	0.60414	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.81029	0.4738	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84888	0.0835	8	0.87932	D	0	-14.4163	14.5138	0.67807	0.0:0.0:1.0:0.0	.	213	Q96RK0	CIC_HUMAN	P	213	.	ENSP00000160740:R213P	R	+	2	0	CIC	47483592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	37	0	0	0	1	0	8	37					C	42791752	G	C	42791752	3	2	501	1	0	0	0	0	1	0	0	0	3424	1116	39	4	656	4	CIC	19	42791752	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08	34	42791752	16337231	20	40145	163	2	1	56		3	2	40	N	G_C	2.519611e-05
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T													tgatcttcagcaagcggcacCgggccctggtccaccagcgt							TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	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						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64	64	64					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	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.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	41	0	0	0	1	0	6	41					T	42791757	C	T	42791757	3	4	501	1	0	0	0	0	1	0	0	0	3424	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	5	42791757	16337226	21	40146	163	2	1	56		3	2	40	N	G_C	2.519611e-05
FLG	2312	broad.mit.edu	37	chr1	152276230	152276230	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagtgctcacctggtagAggaaagaccctgaacgtcca	11	11	1	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:152276230A>G	ENST00000368799.1	-	3	11167	c.11132T>C	c.(11131-11133)cTc>cCc	p.L3711P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3711	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)			CACCTGGTAGAGGAAAGACCC	0.617									Ichthyosis																													ENST00000368799.1																			0				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						c.(11131-11133)cTc>cCc		filaggrin							144	150	148					1																	152276230		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276230A>G	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.11132T>C	1.37:g.152276230A>G	ENSP00000357789:p.Leu3711Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.L3711P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11167	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3711			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11132T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	6.378	0.437900	0.12104	.	.	ENSG00000143631	ENST00000368799	T	0.01854	4.6	1.79	-3.33	0.04958	.	.	.	.	.	T	0.00754	0.0025	M	0.73962	2.25	0.09310	N	1	P	0.36144	0.539	B	0.31547	0.132	T	0.41538	-0.9503	9	0.23302	T	0.38	.	2.9599	0.05889	0.2852:0.0:0.4754:0.2394	.	3711	P20930	FILA_HUMAN	P	3711	ENSP00000357789:L3711P	ENSP00000357789:L3711P	L	-	2	0	FLG	150542854	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.719000	0.00812	-0.835000	0.04234	-0.398000	0.06409	CTC		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		95	171	0	0	0	1	0	95	171					G	152276230	A	G	152276230	3	3	502	1	0	0	0	0	1	0	0	0	5922	304	11	3	1057	3	FLG	1	152276230	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		152276230	96974391	1	40147											
CD1E	913	broad.mit.edu	37	chr1	158325645	158325645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctggctgtcctgtggCcccagtcctggccctggccg	15	16	0	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:158325645C>T	ENST00000368167.3	+	4	893	c.654C>T	c.(652-654)ggC>ggT	p.G218G	CD1E_ENST00000444681.2_Silent_p.G119G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000368157.1_Silent_p.G29G|CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368163.3_Silent_p.G218G|CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368165.3_Silent_p.G128G	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	218	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGTCCTGTGGCCCCAGTCCTG	0.572																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(355-357)ggC>ggT		CD1e molecule							41	43	42					1																	158325645		2203	4300	6503	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325645C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.654C>T	1.37:g.158325645C>T						CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000368163.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368167.3_Silent_p.G218G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368165.3_Silent_p.G128G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368157.1_Silent_p.G29G	p.G119G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			3	650	+	all_hematologic(112;0.0378)		218					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.357C>T	CCDS41417.1																																																																																				0.572	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		12	46	0	0	0	1	0	12	46					T	158325645	C	T	158325645	2	4	502	1	0	0	0	0	0	0	0	1	2978	726	26	2		2	CD1E	1	158325645	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	6049415	158325645	90924976	2	40148											
OR10J5	127385	broad.mit.edu	37	chr1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcaaaggtcttcttcCggccctcagctgaggcaatt	12	11	3	1	rs141462119	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).			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)					GGTCTTCTTCCGGCCCTCAGC	0.483													C|||	10	0.00199681	0.0	0.0	5008	,	,		21259	0.0		0.0	False		,,,				2504	0.0102					ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(697-699)cGg>cAg		olfactory receptor, family 10, subfamily J, member 5		C	GLN/ARG	0,4406		0,0,2203	81	80	80		698	-1	0	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10J5	NM_001004469.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	233/310	159505100	1,13005	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505100C>T		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.698G>A	1.37:g.159505100C>T	ENSP00000334441:p.Arg233Gln						p.R233Q	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	742	-	all_hematologic(112;0.0429)		233		R -> W (in dbSNP:rs35393723).			B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.698G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008239	0.07727	0.0	1.16E-4	ENSG00000184155	ENST00000334857	T	0.00311	8.15	4.13	-0.979	0.10276	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.53780	1.695	0.09310	N	1	B	0.29253	0.239	B	0.23419	0.046	T	0.06162	-1.0842	9	0.51188	T	0.08	.	7.1247	0.25465	0.0:0.428:0.0:0.572	.	233	Q8NHC4	O10J5_HUMAN	Q	233	ENSP00000334441:R233Q	ENSP00000334441:R233Q	R	-	2	0	OR10J5	157771724	0.000000	0.05858	0.028000	0.17463	0.031000	0.12232	-1.073000	0.03430	-0.093000	0.12396	-0.194000	0.12790	CGG		0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		13	44	0	0	0	1	0	13	44					T	159505100	C	T	159505100	3	4	502	1	0	0	0	0	1	0	0	0	10912	652	23	1	233	1	OR10J5	1	159505100	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	1179455	159505100	89745521	3	40149											
RGS13	6003	broad.mit.edu	37	chr1	192628531	192628531	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaacccactgaaacaTgttttgaagaagctcagaaa	8	8	2	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:192628531T>A	ENST00000391995.2	+	7	646	c.358T>A	c.(358-360)Tgt>Agt	p.C120S	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.C120S	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	120	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|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)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CACTGAAACATGTTTTGAAGA	0.348																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(358-360)Tgt>Agt		regulator of G-protein signaling 13							100	87	91					1																	192628531		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192628531T>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"Regulators of G-protein signaling"	9995	protein-coding gene	gene with protein product		607190	"regulator of G-protein signalling 13"			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.358T>A	1.37:g.192628531T>A	ENSP00000375853:p.Cys120Ser					RGS13_ENST00000543215.1_Missense_Mutation_p.C120S|RGS13_ENST00000482095.1_3'UTR	p.C120S	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			7	646	+			120			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.358T>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294283	0.60086	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.01838	4.61;4.61	5.69	4.54	0.55810	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.092837	0.85682	D	0.000000	T	0.03827	0.0108	L	0.39692	1.235	0.38341	D	0.944078	P	0.46457	0.878	P	0.48654	0.585	T	0.51826	-0.8656	10	0.56958	D	0.05	.	8.5581	0.33494	0.3091:0.0:0.0:0.6909	.	120	O14921	RGS13_HUMAN	S	120	ENSP00000375853:C120S;ENSP00000442837:C120S	ENSP00000375853:C120S	C	+	1	0	RGS13	190895154	1.000000	0.71417	0.853000	0.33588	0.977000	0.68977	3.501000	0.53325	0.958000	0.37956	0.482000	0.46254	TGT		0.348	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		11	47	0	0	0	1	0	11	47					A	192628531	T	A	192628531	3	1	502	1	0	0	0	0	1	0	0	0	13296	1464	51	5	372	5	RGS13	1	192628531	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	33123431	192628531	56622090	4	40150											
CD46	4179	broad.mit.edu	37	chr1	207930905	207930905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaacatgtccatatataCgggatcctttaaatggccaa	8	8	0	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:207930905C>T	ENST00000358170.2	+	3	463	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000361067.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	103	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCCATATATACGGGATCCTTT	0.363																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19	GRCh37	CM050660	CD46	M		c.(307-309)Cgg>Tgg		CD46 molecule, complement regulatory protein							44	42	43					1																	207930905		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930905C>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.307C>T	1.37:g.207930905C>T	ENSP00000350893:p.Arg103Trp					CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000361067.1_Missense_Mutation_p.R103W	p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			3	463	+			103			Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.307C>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966555	0.34659	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.01	-2.16	0.07080	Complement control module (2);Sushi/SCR/CCP (3);	5.176000	0.00465	N	0.000109	T	0.74733	0.3755	M	0.64997	1.995	0.09310	N	1	P;D;D;D;P;D;P;D;P;D;D;P;D;D	0.71674	0.76;0.964;0.989;0.977;0.862;0.987;0.76;0.989;0.76;0.996;0.99;0.953;0.998;0.962	B;B;P;P;B;P;P;P;B;P;P;B;P;P	0.59761	0.445;0.403;0.663;0.608;0.312;0.454;0.608;0.54;0.445;0.601;0.863;0.431;0.83;0.589	T	0.61496	-0.7051	10	0.72032	D	0.01	.	5.8533	0.18707	0.3319:0.1978:0.4703:0.0	.	103;103;103;103;103;103;103;103;103;103;103;103;103;103	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	W	103;103;103;103;103;103;103;40;103;103;103;103	ENSP00000350893:R103W;ENSP00000346912:R103W;ENSP00000314664:R103W;ENSP00000356009:R103W;ENSP00000356008:R103W;ENSP00000350346:R103W;ENSP00000313875:R103W;ENSP00000356014:R40W;ENSP00000413543:R103W;ENSP00000354358:R103W;ENSP00000353342:R103W;ENSP00000418471:R103W	ENSP00000313875:R103W	R	+	1	2	CD46	205997528	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.903000	0.01594	-0.518000	0.06452	-1.520000	0.00934	CGG		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		6	32	0	0	0	1	0	6	32					T	207930905	C	T	207930905	3	4	502	1	0	0	0	0	1	0	0	0	3018	527	19	1	317	1	CD46	1	207930905	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	15302374	207930905	41319716	5	40151											
AGT	183	broad.mit.edu	37	chr1	230845898	230845898	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagagagcgtgggaggacCacaggggtatagagagccag	17	8	0	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:230845898C>A	ENST00000366667.4	-	2	913	c.699G>T	c.(697-699)gtG>gtT	p.V233V	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	233					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGGGAGGACCACAGGGGTAT	0.602																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(697-699)gtG>gtT		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						74	75	74					1																	230845898		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845898C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"Serine (or cysteine) peptidase inhibitors", "Endogenous ligands"	333	protein-coding gene	gene with protein product	"alpha-1 antiproteinase, antitrypsin"	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.699G>T	1.37:g.230845898C>A							p.V233V	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	913	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	233					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.699G>T	CCDS1585.1																																																																																				0.602	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		9	62	1	0	1.33987e-11	1	1.43558e-11	9	62					A	230845898	C	A	230845898	2	1	502	1	0	0	0	0	0	0	0	1	399	581	21	4		4	AGT	1	230845898	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	22914993	230845898	18404723	6	40152											
GCKR	2646	broad.mit.edu	37	chr2	27722069	27722071	+	In_Frame_Del	DEL	GAA	GAA	-													ttgcacgggattgaggaactGaagaaggtctgtgcttttca					rs200836461		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:27722069_27722071delGAA	ENST00000264717.2	+	6	552_554	c.489_491delGAA	c.(487-492)ctgaag>ctg	p.K165del	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	165	SIS 1. {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)					TTGAGGAACTGAAGAAGGTCTGT	0.512																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(487-492)ctg>ct		glucokinase (hexokinase 4) regulator																																				SO:0001651	inframe_deletion	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27722069_27722071delGAA	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.489_491delGAA	2.37:g.27722072_27722074delGAA	ENSP00000264717:p.Lys165del					GCKR_ENST00000424318.2_Intron	p.LK163del	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			6	552_554	+	Acute lymphoblastic leukemia(172;0.155)		163			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	In_Frame_Del	DEL	ENST00000264717.2	37	c.489_491delGAA	CCDS1757.1																																																																																				0.512	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		10	53						10	53	---	---	---	---	-	27722071	GAA	-	27722069	7	5	502	1	0	1	0	1	0	0	0	0	6294	1277	45	0	511	0	GCKR	2	27722069	In_Frame_Del	DEL	GAA	TCGA-VM-A8CF-01A-11D-A36O-08		27722069	215477304	7	40153											
CHRNA1	1134	broad.mit.edu	37	chr2	175619022	175619022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgttcatcaaagggAaagtgggtgacgatgatctc	12	7	4	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:175619022A>G	ENST00000261007.5	-	6	606	c.540T>C	c.(538-540)ttT>ttC	p.F180F	CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Silent_p.F155F|CHRNA1_ENST00000409323.1_Silent_p.F155F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Silent_p.F155F	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	180					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CATCAAAGGGAAAGTGGGTGA	0.522																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(463-465)ttT>ttC		cholinergic receptor, nicotinic, alpha 1 (muscle)							163	142	149					2																	175619022		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175619022A>G	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.540T>C	2.37:g.175619022A>G						CHRNA1_ENST00000261007.5_Silent_p.F180F|CHRNA1_ENST00000409219.1_Silent_p.F155F|CHRNA1_ENST00000409323.1_Silent_p.F155F|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA	p.F155F	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			5	542	-			180					B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.465T>C	CCDS33331.1																																																																																				0.522	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			19	24	0	0	0	1	0	19	24					G	175619022	A	G	175619022	2	3	502	1	0	0	0	0	0	0	0	1	3381	243	9	3		3	CHRNA1	2	175619022	Silent	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	147896953	175619022	67580351	8	40154											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	33	0	0	0	1	0	28	33					T	209113112	C	T	209113112	3	4	502	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	33494090	209113112	34086261	9	40155											
FAM19A4	151647	broad.mit.edu	37	chr3	68788283	68788283	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caacctgagtaatctggcagCactttacaatcctctccttc	5	14	2	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:68788283C>G	ENST00000295569.7	-	5	846	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	118						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AATCTGGCAGCACTTTACAAT	0.393																																						ENST00000295569.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10						c.(352-354)gtG>gtC		family with sequence similarity 19 (chemokine (C-C motif)-like), member A4							207	179	188					3																	68788283		2203	4300	6503	SO:0001819	synonymous_variant	151647					extracellular region		g.chr3:68788283C>G	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.354G>C	3.37:g.68788283C>G							p.V118V	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	5	846	-		Lung NSC(201;0.0198)	118					A8MVT2	Silent	SNP	ENST00000295569.7	37	c.354G>C	CCDS2907.1																																																																																				0.393	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		55	79	0	0	0	1	0	55	79					G	68788283	C	G	68788283	2	3	502	1	0	0	0	0	0	0	0	1	5534	697	25	4		4	FAM19A4	3	68788283	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		68788283	129234147	10	40156											
EPHA3	2042	broad.mit.edu	37	chr3	89390920	89390920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggacctccatcttcacCaagaaatgttatctctaata	5	11	3	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:89390920C>A	ENST00000336596.2	+	5	1211	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATCTTCACCAAGAAATGTT	0.403										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(985-987)cCa>cAa		EPH receptor A3							61	65	64					3																	89390920		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390920C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.986C>A	3.37:g.89390920C>A	ENSP00000337451:p.Pro329Gln	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q	p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1211	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	329			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.986C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234189	0.79688	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.79749	-1.3;-1.3;-1.3	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93203	0.7835	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93970	0.7248	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	329;329	P29320;P29320-2	EPHA3_HUMAN;.	Q	329	ENSP00000337451:P329Q;ENSP00000399926:P329Q;ENSP00000419190:P329Q	.	P	+	2	0	EPHA3	89473610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CCA		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		8	30	1	0	1.26484e-09	1	1.33142e-09	8	30					A	89390920	C	A	89390920	3	1	502	1	0	0	0	0	1	0	0	0	5168	594	21	4	1004	4	EPHA3	3	89390920	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	20602637	89390920	108631510	11	40157											
KIAA0232	9778	broad.mit.edu	37	chr4	6862653	6862653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcatttccaccacttTctgagaaaccagtttgcctg	7	11	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:6862653T>C	ENST00000307659.5	+	7	999	c.544T>C	c.(544-546)Tct>Cct	p.S182P	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	182							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						TCCACCACTTTCTGAGAAACC	0.398																																						ENST00000307659.5																			0				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						c.(544-546)Tct>Cct		KIAA0232							138	135	136					4																	6862653		1921	4139	6060	SO:0001583	missense	9778						ATP binding	g.chr4:6862653T>C	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.544T>C	4.37:g.6862653T>C	ENSP00000303928:p.Ser182Pro					KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	999	+			182					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.544T>C	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.966034	0.92855	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73000	-0.4120	9	0.87932	D	0	-17.5517	15.6476	0.77068	0.0:0.0:0.0:1.0	.	182	Q92628	K0232_HUMAN	P	182	.	ENSP00000303928:S182P	S	+	1	0	KIAA0232	6913554	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	7.654000	0.83653	2.103000	0.63969	0.533000	0.62120	TCT		0.398	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		44	58	0	0	0	1	0	44	58					C	6862653	T	C	6862653	3	2	502	1	0	0	0	0	1	0	0	0	8163	1783	62	3	562	3	KIAA0232	4	6862653	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08		6862653	184291623	12	40158											
GABRA2	2555	broad.mit.edu	37	chr4	46388112	46388112	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcccagtcctggtctaagccGattatcgtaaccatccagaa	7	13	1	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:46388112G>C	ENST00000510861.1	-	3	339	c.166C>G	c.(166-168)Cgg>Ggg	p.R56G	GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000507460.1_Missense_Mutation_p.R56G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	56					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGTCTAAGCCGATTATCGTAA	0.353																																						ENST00000507460.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(166-168)Cgg>Ggg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						83	78	80					4																	46388112		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46388112G>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.166C>G	4.37:g.46388112G>C	ENSP00000421828:p.Arg56Gly					GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000510861.1_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR	p.R56G			P47869	GBRA2_HUMAN			3	498	-			56					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.166C>G	CCDS3471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.349059|4.349059	0.82132|0.82132	.|.	.|.	ENSG00000151834|ENSG00000151834	ENST00000540012|ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T|T;T;T;T;T;T;T;T	0.78816|0.80214	-1.21|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.062809	.|0.64402	.|D	.|0.000004	D|D	0.91543|0.91543	0.7329|0.7329	M|M	0.90309|0.90309	3.105|3.105	0.22737|0.22737	N|N	0.998795|0.998795	P|D;D;D	0.35192|0.89917	0.489|1.0;0.99;0.984	B|D;D;D	0.30646|0.87578	0.118|0.998;0.922;0.939	D|D	0.85636|0.85636	0.1273|0.1273	9|10	0.87932|0.87932	D|D	0|0	.|.	17.4821|17.4821	0.87675|0.87675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23|56;56;56	B7Z1H8|D6RAA9;G5E9Z6;P47869	.|.;.;GBRA2_HUMAN	M|G	23|56	ENSP00000444409:I23M|ENSP00000421828:R56G;ENSP00000421300:R56G;ENSP00000371033:R56G;ENSP00000348897:R56G;ENSP00000427603:R56G;ENSP00000423840:R56G;ENSP00000424362:R56G;ENSP00000424093:R56G	ENSP00000444409:I23M|ENSP00000348897:R56G	I|R	-|-	3|1	3|2	GABRA2|GABRA2	46082869|46082869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.680000|5.680000	0.68168|0.68168	2.598000|2.598000	0.87819|0.87819	0.585000|0.585000	0.79938|0.79938	ATC|CGG		0.353	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			8	31	0	0	0	1	0	8	31					C	46388112	G	C	46388112	3	2	502	1	0	0	0	0	1	0	0	0	6161	1057	37	4	1221	4	GABRA2	4	46388112	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	39525459	46388112	144766164	13	40159											
REST	5978	broad.mit.edu	37	chr4	57796251	57796251	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctacagtatcacttcaaAtctaagcatcctacttgtcc	3	12	4	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:57796251A>G	ENST00000309042.7	+	4	1541	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	409	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATCACTTCAAATCTAAGCATC	0.378																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1225-1227)aaA>aaG		RE1-silencing transcription factor							134	134	134					4																	57796251		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796251A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1227A>G	4.37:g.57796251A>G							p.K409K	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1541	+	Glioma(25;0.08)|all_neural(26;0.181)		409			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.1227A>G	CCDS3509.1																																																																																				0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		29	129	0	0	0	1	0	29	129					G	57796251	A	G	57796251	2	3	502	1	0	0	0	0	0	0	0	1	13234	98	4	3		3	REST	4	57796251	Silent	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	11408139	57796251	133358025	14	40160											
DCK	1633	broad.mit.edu	37	chr4	71889297	71889297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatatttttgcatctaatttGtatgaatctgaatgcatgaa	6	4	2	3	rs372497422		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:71889297G>T	ENST00000286648.5	+	4	820	c.423G>T	c.(421-423)ttG>ttT	p.L141F	DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	141					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CATCTAATTTGTATGAATCTG	0.328																																						ENST00000286648.5																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(421-423)ttG>ttT		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	G	PHE/LEU	0,4406		0,0,2203	77	80	79		423	3.1	1	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCK	NM_000788.2	22	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	141/261	71889297	1,13005	2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71889297G>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.423G>T	4.37:g.71889297G>T	ENSP00000286648:p.Leu141Phe					DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	Lung(101;0.235)		4	820	+			141					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.423G>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676017	0.67928	0.0	1.16E-4	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98345	-4.88;-4.88;-4.88	5.87	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.85945	2.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99136	1.0854	10	0.87932	D	0	.	10.5072	0.44841	0.3041:0.0:0.6959:0.0	.	141	P27707	DCK_HUMAN	F	141	ENSP00000286648:L141F;ENSP00000425578:L141F;ENSP00000421508:L141F	ENSP00000286648:L141F	L	+	3	2	DCK	72108161	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.076000	0.14712	0.869000	0.35703	0.655000	0.94253	TTG		0.328	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			22	34	1	0	6.21321e-17	1	6.77805e-17	22	34					T	71889297	G	T	71889297	3	4	502	1	0	0	0	0	1	0	0	0	4290	1368	48	4	437	4	DCK	4	71889297	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	14093046	71889297	119264979	15	40161											
GLRB	2743	broad.mit.edu	37	chr4	158059959	158059959	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttatttgtttttgtttatAgttggttacacaactgatga	7	3	0	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:158059959A>G	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	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)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTTGTTTATAGTTGGTTACA	0.259																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.e7-1		glycine receptor, beta	Glycine(DB00145)						54	58	57					4																	158059959		2202	4294	6496	SO:0001630	splice_region_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158059959A>G	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.611-1A>G	4.37:g.158059959A>G						GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site		NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	880	+	all_hematologic(180;0.24)	Renal(120;0.0458)						A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	37		CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.879411	0.51801	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5984	0.76606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRB	158279409	1.000000	0.71417	0.984000	0.44739	0.513000	0.34164	9.246000	0.95438	2.090000	0.63153	0.528000	0.53228	.		0.259	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	Intron	39	46	0	0	0	1	0	39	46					G	158059959	A	G	158059959	5	3	502	1	0	0	0	0	0	0	1	0	6458	434	15	3	631	3	GLRB	4	158059959	Splice_Site	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	86170662	158059959	33094317	16	40162											
PCDHB12	56124	broad.mit.edu	37	chr5	140590836	140590836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtgaagtcgaagaaaAtcccccatttcagaataatt	8	7	1	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr5:140590836A>G	ENST00000239450.2	+	1	2546	c.2357A>G	c.(2356-2358)aAt>aGt	p.N786S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	786					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)			GTCGAAGAAAATCCCCCATTT	0.383																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2356-2358)aAt>aGt									56	58	58					5																	140590836		2202	4300	6502	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590836A>G	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.2357A>G	5.37:g.140590836A>G	ENSP00000239450:p.Asn786Ser					PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S	p.N786S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2546	+			786					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2357A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	4.291	0.053152	0.08291	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.15834	2.39;2.39	2.74	-0.949	0.10376	.	.	.	.	.	T	0.10337	0.0253	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.38714	-0.9648	9	0.22109	T	0.4	.	6.1478	0.20294	0.3572:0.0:0.6428:0.0	.	786	Q9Y5F1	PCDBC_HUMAN	S	449;786;406	ENSP00000440199:N449S;ENSP00000239450:N786S	ENSP00000239450:N786S	N	+	2	0	PCDHB12	140571020	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	-0.388000	0.07352	-0.238000	0.09724	0.260000	0.18958	AAT		0.383	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		27	50	0	0	0	1	0	27	50					G	140590836	A	G	140590836	3	3	502	1	0	0	0	0	1	0	0	0	11537	101	4	3	2359	3	PCDHB12	5	140590836	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		140590836	40324424	17	40163											
RIPK1	8737	broad.mit.edu	37	chr6	3106127	3106127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggattatatagctcacatgGctttggaacaagaccactgg	10	8	1	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:3106127G>A	ENST00000259808.4	+	9	1716	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D|RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	473	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)				AGCTCACATGGCTTTGGAACA	0.498																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(1417-1419)gGc>gAc		receptor (TNFRSF)-interacting serine-threonine kinase 1							80	65	70					6																	3106127		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3106127G>A	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.1418G>A	6.37:g.3106127G>A	ENSP00000259808:p.Gly473Asp					RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D	p.G473D			Q13546	RIPK1_HUMAN			9	1716	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	473			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.1418G>A	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385455	0.25031	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409;ENST00000453483	T;T;T	0.75938	-0.98;-0.47;-0.98	5.4	1.18	0.20946	.	1.315740	0.04701	N	0.415937	T	0.49541	0.1563	L	0.55481	1.735	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.42982	-0.9419	10	0.56958	D	0.05	9.0E-4	5.226	0.15396	0.2658:0.0:0.5613:0.1729	.	427;473	Q13546-2;Q13546	.;RIPK1_HUMAN	D	473;427;473;75	ENSP00000259808:G473D;ENSP00000442294:G427D;ENSP00000369773:G473D	ENSP00000259808:G473D	G	+	2	0	RIPK1	3051126	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.266000	0.08631	0.279000	0.22186	0.655000	0.94253	GGC		0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		4	32	0	0	0	1	0	4	32					A	3106127	G	A	3106127	3	1	502	1	0	0	0	0	1	0	0	0	13380	1203	42	2	1448	2	RIPK1	6	3106127	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		3106127	168008940	18	40164											
TFEB	7942	broad.mit.edu	37	chr6	41654880	41654880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactccttgatgcggtcaTtgatgttgaaccttcgtctc	8	12	2	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:41654880T>C	ENST00000230323.4	-	8	1056	c.755A>G	c.(754-756)aAt>aGt	p.N252S	TFEB_ENST00000394283.1_Missense_Mutation_p.N252S|TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	252	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATGCGGTCATTGATGTTGAA	0.547			T	ALPHA	renal (childhood epithelioid)																																	ENST00000394283.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"E,M"	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(754-756)aAt>aGt		transcription factor EB							140	115	123					6																	41654880		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41654880T>C	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"Basic helix-loop-helix proteins"	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.755A>G	6.37:g.41654880T>C	ENSP00000230323:p.Asn252Ser					TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S|TFEB_ENST00000230323.4_Missense_Mutation_p.N252S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S	p.N252S			P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		7	1981	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		252			Helix-loop-helix motif.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.755A>G	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525132	0.85600	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396	D;D;D;D;D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.85	4.85	0.62838	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	M	0.76727	2.345	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.992;0.996;0.987	D	0.99517	1.0957	10	0.87932	D	0	-13.5279	14.0911	0.64990	0.0:0.0:0.0:1.0	.	266;252;167	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	S	110;338;252;266;252;167;252;252;252	ENSP00000383998:N110S;ENSP00000343948:N338S;ENSP00000230323:N252S;ENSP00000351742:N266S;ENSP00000384203:N252S;ENSP00000412551:N167S;ENSP00000362124:N252S;ENSP00000377824:N252S;ENSP00000410391:N252S	ENSP00000230323:N252S	N	-	2	0	TFEB	41762858	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	6.244000	0.72391	1.819000	0.53055	0.460000	0.39030	AAT		0.547	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			5	18	0	0	0	1	0	5	18					C	41654880	T	C	41654880	3	2	502	1	0	0	0	0	1	0	0	0	15798	1493	52	3	687	3	TFEB	6	41654880	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	38548753	41654880	129460187	19	40165											
COL21A1	81578	broad.mit.edu	37	chr6	55924013	55924013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatacccaaacccttggctcCctttttccccatttcttcct	3	17	1	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:55924013C>T	ENST00000244728.5	-	29	3033	c.2636G>A	c.(2635-2637)gGg>gAg	p.G879E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	879	Collagen-like 6.				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)			CCCTTGGCTCCCTTTTTCCCC	0.448																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(2635-2637)gGg>gAg		collagen, type XXI, alpha 1							80	84	83					6																	55924013		1841	4086	5927	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55924013C>T	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.2636G>A	6.37:g.55924013C>T	ENSP00000244728:p.Gly879Glu					COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	p.G879E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		29	3033	-	Lung NSC(77;0.0483)		879			Collagen-like 6.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2636G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780273	0.49891	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99619	-4.58;-4.58;-4.58;-6.28	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000021	D	0.99837	0.9926	H	0.97587	4.035	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	0.96705	0.9521	10	0.87932	D	0	.	18.9216	0.92528	0.0:1.0:0.0:0.0	.	245;879;879;236	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	E	879;876;879;876;245	ENSP00000244728:G879E;ENSP00000359855:G876E;ENSP00000444384:G879E;ENSP00000359844:G245E	ENSP00000244728:G879E	G	-	2	0	COL21A1	56031972	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	6.146000	0.71777	2.455000	0.83008	0.655000	0.94253	GGG		0.448	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			7	17	0	0	0	1	0	7	17					T	55924013	C	T	55924013	3	4	502	1	0	0	0	0	1	0	0	0	3680	623	22	2	245	2	COL21A1	6	55924013	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	14269133	55924013	115191054	20	40166											
DUS4L	11062	broad.mit.edu	37	chr7	107215662	107215662	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggttatggggcttGcttaataaacaagccagagc	13	7	0	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr7:107215662G>C	ENST00000265720.3	+	6	748	c.386G>C	c.(385-387)tGc>tCc	p.C129S	DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	129							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGGGGCTTGCTTAATAAAC	0.363																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(385-387)tGc>tCc		dihydrouridine synthase 4-like (S. cerevisiae)							91	96	95					7																	107215662		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107215662G>C	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.386G>C	7.37:g.107215662G>C	ENSP00000265720:p.Cys129Ser					DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	p.C129S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			6	748	+			129					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.386G>C	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254139	0.22965	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.29917	1.55;1.55	5.39	5.39	0.77823	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.33485	1.01	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.20577	0.03;0.03	T	0.03957	-1.0989	10	0.21540	T	0.41	.	19.5146	0.95157	0.0:0.0:1.0:0.0	.	129;129	A4D0R5;O95620	.;DUS4L_HUMAN	S	129;8	ENSP00000265720:C129S;ENSP00000385274:C8S	ENSP00000265720:C129S	C	+	2	0	DUS4L	107002898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.690000	0.91761	0.655000	0.94253	TGC		0.363	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		12	86	0	0	0	1	0	12	86					C	107215662	G	C	107215662	3	2	502	1	0	0	0	0	1	0	0	0	4808	1319	46	4	400	4	DUS4L	7	107215662	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		107215662	51923001	21	40167											
ANGPT1	284	broad.mit.edu	37	chr8	108334251	108334251	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagctcctggattatataTgtttgacgagtaaccaagcc	8	10	0	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr8:108334251T>G	ENST00000520734.1	-	3	366	c.81A>C	c.(79-81)acA>acC	p.T27T	ANGPT1_ENST00000518386.1_5'Flank|ANGPT1_ENST00000520052.1_Silent_p.T27T			Q15389	ANGP1_HUMAN	angiopoietin 1	227					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)			GGATTATATATGTTTGACGAG	0.418																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(79-81)acA>acC		angiopoietin 1							199	182	188					8																	108334251		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108334251T>G	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.81A>C	8.37:g.108334251T>G						ANGPT1_ENST00000520052.1_Silent_p.T27T	p.T27T			Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		3	366	-	Breast(1;5.06e-08)		227					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.81A>C																																																																																					0.418	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		12	127	0	0	0	1	0	12	127					G	108334251	T	G	108334251	2	3	502	1	0	0	0	0	0	0	0	1	610	1451	51	5		5	ANGPT1	8	108334251	Silent	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08		108334251	38029771	22	40168											
FREM1	158326	broad.mit.edu	37	chr9	14746437	14746437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcctgagtgctggtgccaCccggctggacaggatttgtc	14	11	0	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:14746437C>T	ENST00000380880.3	-	35	6951	c.6168G>A	c.(6166-6168)ggG>ggA	p.G2056G	FREM1_ENST00000380881.4_Silent_p.G2057G|FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000422223.2_Silent_p.G2056G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2056					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)		GCTGGTGCCACCCGGCTGGAC	0.493																																						ENST00000380881.4																			0				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						c.(6169-6171)ggG>ggA		FRAS1 related extracellular matrix 1							131	134	133					9																	14746437		1987	4159	6146	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14746437C>T	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.6168G>A	9.37:g.14746437C>T						FREM1_ENST00000422223.2_Silent_p.G2056G|FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000380880.3_Silent_p.G2056G	p.G2057G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	36	6986	-			2056					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.6171G>A	CCDS47952.1																																																																																				0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		15	42	0	0	0	1	0	15	42					T	14746437	C	T	14746437	2	4	502	1	0	0	0	0	0	0	0	1	6044	494	18	2		2	FREM1	9	14746437	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		14746437	126466994	23	40169											
SNAPC3	6619	broad.mit.edu	37	chr9	15459757	15459757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcaccagaggacccaTgcttcttttgtgatgtttgc	10	9	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:15459757T>C	ENST00000380821.3	+	9	1305	c.1129T>C	c.(1129-1131)Tgc>Cgc	p.C377R		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	377					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)		AGAGGACCCATGCTTCTTTTG	0.393																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(1129-1131)Tgc>Cgc		small nuclear RNA activating complex, polypeptide 3, 50kDa							159	147	151					9																	15459757		2203	4300	6503	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15459757T>C	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.1129T>C	9.37:g.15459757T>C	ENSP00000370200:p.Cys377Arg						p.C377R	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	9	1305	+			377					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.1129T>C	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414352	0.83449	.	.	ENSG00000164975	ENST00000380821	T	0.46819	0.86	5.86	5.86	0.93980	.	0.041867	0.85682	D	0.000000	T	0.70798	0.3265	M	0.83223	2.63	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.75263	-0.3379	10	0.72032	D	0.01	-19.4393	16.2215	0.82262	0.0:0.0:0.0:1.0	.	377	Q92966	SNPC3_HUMAN	R	377	ENSP00000370200:C377R	ENSP00000370200:C377R	C	+	1	0	SNAPC3	15449757	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.907000	0.87430	2.367000	0.80283	0.528000	0.53228	TGC		0.393	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		19	50	0	0	0	1	0	19	50					C	15459757	T	C	15459757	3	2	502	1	0	0	0	0	1	0	0	0	14836	1464	51	3	1163	3	SNAPC3	9	15459757	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	713320	15459757	125753674	24	40170											
SVIL	6840	broad.mit.edu	37	chr10	29839796	29839796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgtcacccacatggaggGcatagtccttggattcaccg	11	13	2	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:29839796G>A	ENST00000355867.4	-	6	1309	c.557C>T	c.(556-558)gCc>gTc	p.A186V	SVIL_ENST00000375400.3_Missense_Mutation_p.A186V|SVIL_ENST00000375398.2_Missense_Mutation_p.A186V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	186					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACATGGAGGGCATAGTCCTT	0.577																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(556-558)gCc>gTc		supervillin							93	94	93					10																	29839796		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29839796G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.557C>T	10.37:g.29839796G>A	ENSP00000348128:p.Ala186Val					SVIL_ENST00000355867.4_Missense_Mutation_p.A186V|SVIL_ENST00000375400.3_Missense_Mutation_p.A186V	p.A186V			O95425	SVIL_HUMAN			8	1006	-		Breast(68;0.103)	186					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.557C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788195	0.31593	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.44881	0.91;0.91;0.91	4.67	1.66	0.24008	.	0.923476	0.09346	N	0.814890	T	0.38081	0.1027	L	0.56769	1.78	0.18873	N	0.999988	B;B	0.34181	0.178;0.44	B;B	0.31101	0.124;0.118	T	0.15665	-1.0429	9	.	.	.	-1.3242	10.7337	0.46111	0.0:0.405:0.4557:0.1394	.	186;186	O95425-2;O95425	.;SVIL_HUMAN	V	186	ENSP00000364549:A186V;ENSP00000364547:A186V;ENSP00000348128:A186V	.	A	-	2	0	SVIL	29879802	0.000000	0.05858	0.007000	0.13788	0.498000	0.33706	-0.157000	0.10085	0.049000	0.15920	-0.282000	0.10007	GCC		0.577	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	87	0	0	0	1	0	4	87					A	29839796	G	A	29839796	3	1	502	1	0	0	0	0	1	0	0	0	15418	1203	42	2	6219	2	SVIL	10	29839796	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		29839796	105694951	25	40171											
SYCE1	93426	broad.mit.edu	37	chr10	135370647	135370647	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttgcactcctgcaAcatggtgtgcttcctgggag	10	13	1	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:135370647A>T	ENST00000343131.5	-	7	492	c.388T>A	c.(388-390)Ttg>Atg	p.L130M	SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.L94M	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACTCCTGCAACATGGTGTGC	0.547																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(280-282)Ttg>Atg		synaptonemal complex central element protein 1							228	215	219					10																	135370647		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135370647A>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.388T>A	10.37:g.135370647A>T	ENSP00000341282:p.Leu130Met					SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130M	p.L94M	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	418	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	130					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.280T>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	A	8.523	0.869240	0.17322	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.31247	1.5;3.14;3.14;3.14	4.3	2.14	0.27477	.	0.114911	0.37219	N	0.002193	T	0.40171	0.1106	L	0.44542	1.39	0.09310	N	0.999994	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.976;0.965	T	0.12477	-1.0546	10	0.48119	T	0.1	-3.2344	5.6118	0.17410	0.6346:0.0:0.3654:0.0	.	2;130;94	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	M	130;94;94;130	ENSP00000303978:L130M;ENSP00000411779:L94M;ENSP00000357503:L94M;ENSP00000341282:L130M	ENSP00000303978:L130M	L	-	1	2	SYCE1	135220637	0.325000	0.24660	0.271000	0.24616	0.065000	0.16274	0.334000	0.19787	0.185000	0.20105	-1.139000	0.01908	TTG		0.547	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		32	134	0	0	0	1	0	32	134					T	135370647	A	T	135370647	3	4	502	1	0	0	0	0	1	0	0	0	15425	40	2	5	738	5	SYCE1	10	135370647	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	105530851	135370647	164100	26	40172											
PPFIBP2	8495	broad.mit.edu	37	chr11	7662771	7662771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctcatccacatcatcGggcactgaatcaggtcctca	7	15	4	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:7662771G>A	ENST00000299492.4	+	16	1825	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	PPFIBP2_ENST00000528883.1_Silent_p.S367S|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.S321S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	479					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACATCATCGGGCACTGAAT	0.483																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1435-1437)tcG>tcA		PTPRF interacting protein, binding protein 2 (liprin beta 2)							162	136	145					11																	7662771		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7662771G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1437G>A	11.37:g.7662771G>A						PPFIBP2_ENST00000533792.1_Silent_p.S321S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000528883.1_Silent_p.S367S	p.S479S	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	16	1825	+			479					B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.1437G>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213182	0.22289	.	.	ENSG00000166387	ENST00000534409	.	.	.	6.03	-11.7	0.00046	.	.	.	.	.	T	0.45337	0.1337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58691	-0.7592	4	.	.	.	-3.0686	9.4177	0.38532	0.062:0.1388:0.1044:0.6948	.	.	.	.	R	170	.	.	G	+	1	0	PPFIBP2	7619347	0.003000	0.15002	0.701000	0.30321	0.890000	0.51754	-1.477000	0.02331	-1.309000	0.02315	-0.274000	0.10170	GGG		0.483	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		3	54	0	0	0	1	0	3	54					A	7662771	G	A	7662771	2	1	502	1	0	0	0	0	0	0	0	1	12314	1103	39	1		1	PPFIBP2	11	7662771	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7662771	127343745	27	40173											
ARHGAP1	392	broad.mit.edu	37	chr11	46701805	46701805	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccacttgggtgttggccgacCtccggaagatgccctcggtg	14	13	0	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:46701805C>G	ENST00000311956.4	-	10	945	c.848G>C	c.(847-849)aGg>aCg	p.R283T		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTTGGCCGACCTCCGGAAGAT	0.617																																						ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(847-849)aGg>aCg		Rho GTPase activating protein 1							103	91	95					11																	46701805		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46701805C>G	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"Rho GTPase activating proteins"	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.848G>C	11.37:g.46701805C>G	ENSP00000310491:p.Arg283Thr						p.R283T	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	10	945	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	283			Rho-GAP.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.848G>C	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033893|4.033893	0.75504|0.75504	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000528837|ENST00000311956;ENST00000443332	.|T	.|0.18016	.|2.24	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.184388	.|0.56097	.|N	.|0.000024	T|T	0.46521|0.46521	0.1397|0.1397	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.45934|0.45934	-0.9227|-0.9227	5|10	.|0.87932	.|D	.|0	.|.	19.4761|19.4761	0.94989|0.94989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|283	.|Q07960	.|RHG01_HUMAN	D|T	236|283	.|ENSP00000310491:R283T	.|ENSP00000310491:R283T	E|R	-|-	3|2	2|0	ARHGAP1|ARHGAP1	46658381|46658381	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.243000|0.243000	0.25628|0.25628	7.028000|7.028000	0.76470|0.76470	2.615000|2.615000	0.88500|0.88500	0.555000|0.555000	0.69702|0.69702	GAG|AGG		0.617	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		10	43	0	0	0	1	0	10	43					G	46701805	C	G	46701805	3	3	502	1	0	0	0	0	1	0	0	0	861	681	24	4	487	4	ARHGAP1	11	46701805	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	39039034	46701805	88304711	28	40174											
OR5M9	390162	broad.mit.edu	37	chr11	56230095	56230095	+	Silent	SNP	G	G	C													tgctctacggattcctcagtGggtctcctgagatacatgaa							TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230095G>C	ENST00000279791.1	-	1	782	c.783C>G	c.(781-783)ccC>ccG	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493																																						ENST00000279791.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.P261P(1)|p.P261Q(1)	urinary_tract(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(781-783)ccC>ccG		olfactory receptor, family 5, subfamily M, member 9							69	62	65					11																	56230095		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230095G>C	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.783C>G	11.37:g.56230095G>C							p.P261P	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	782	-	Esophageal squamous(21;0.00448)		261					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.783C>G	CCDS31531.1																																																																																				0.493	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		10	42	0	0	0	1	0	10	42					C	56230095	G	C	56230095	2	2	502	1	0	0	0	0	0	0	0	1	11177	1335	47	4		4	OR5M9	11	56230095	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	9528290	56230095	78776421	29	40175	164	2									
OR5M9	390162	broad.mit.edu	37	chr11	56230096	56230096	+	Missense_Mutation	SNP	G	G	A													gctctacggattcctcagtgGgtctcctgagatacatgaag							TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230096G>A	ENST00000279791.1	-	1	781	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTCCTCAGTGGGTCTCCTGAG	0.488																																						ENST00000279791.1																			1	Substitution - Missense(1)	p.P261Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(781-783)cCc>cTc		olfactory receptor, family 5, subfamily M, member 9							69	62	65					11																	56230096		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230096G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.782C>T	11.37:g.56230096G>A	ENSP00000279791:p.Pro261Leu						p.P261L	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	781	-	Esophageal squamous(21;0.00448)		261					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.782C>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978915	0.18812	.	.	ENSG00000150269	ENST00000279791	T	0.00164	8.64	4.39	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000510	T	0.00271	0.0008	L	0.41710	1.295	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.51903	-0.8646	10	0.66056	D	0.02	-16.3848	8.4712	0.32986	0.0:0.1456:0.5561:0.2983	.	261	Q8NGP3	OR5M9_HUMAN	L	261	ENSP00000279791:P261L	ENSP00000279791:P261L	P	-	2	0	OR5M9	55986672	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.087000	0.11215	0.369000	0.24510	0.542000	0.68232	CCC		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		10	42	0	0	0	1	0	10	42					A	56230096	G	A	56230096	3	1	502	1	0	0	0	0	1	0	0	0	11177	1232	43	2	152	2	OR5M9	11	56230096	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	1	56230096	78776420	30	40176	164	2									
OR5A1	219982	broad.mit.edu	37	chr11	59210797	59210797	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggccctcatttttctgatCagaggtgacacccatctgca	8	13	4	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:59210797C>T	ENST00000302030.2	+	1	181	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	52			I -> V (in dbSNP:rs17153732).			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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTTTTCTGATCAGAGGTGACA	0.498																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(154-156)atC>atT		olfactory receptor, family 5, subfamily A, member 1							151	146	148					11																	59210797		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210797C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.156C>T	11.37:g.59210797C>T							p.I52I	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	181	+			52		I -> V (in dbSNP:rs17153732).			B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.156C>T	CCDS31561.1																																																																																				0.498	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		18	102	0	0	0	1	0	18	102					T	59210797	C	T	59210797	2	4	502	1	0	0	0	0	0	0	0	1	11139	816	29	2		2	OR5A1	11	59210797	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	2980701	59210797	75795719	31	40177											
MMP3	4314	broad.mit.edu	37	chr11	102711301	102711301	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtggccaatttcatgagCagcaacgagaaataaattgg	12	6	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:102711301C>A	ENST00000299855.5	-	5	905	c.649G>T	c.(649-651)Gct>Tct	p.A217S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	217					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)	ATTTCATGAGCAGCAACGAGA	0.413																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(649-651)Gct>Tct		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						101	99	99					11																	102711301		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102711301C>A	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.649G>T	11.37:g.102711301C>A	ENSP00000299855:p.Ala217Ser						p.A217S	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	5	905	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	217					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.649G>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053414	0.75960	.	.	ENSG00000149968	ENST00000299855	T	0.25912	1.77	4.98	4.07	0.47477	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.228496	0.22155	N	0.063872	T	0.62146	0.2404	H	0.97390	3.995	0.58432	D	0.999998	D	0.63880	0.993	D	0.71656	0.974	T	0.71464	-0.4585	10	0.87932	D	0	.	9.523	0.39147	0.0:0.8408:0.0:0.1592	.	217	P08254	MMP3_HUMAN	S	217	ENSP00000299855:A217S	ENSP00000299855:A217S	A	-	1	0	MMP3	102216511	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.540000	0.60664	1.333000	0.45449	0.563000	0.77884	GCT		0.413	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	56	1	0	0.00024832	1	0.000252529	4	56					A	102711301	C	A	102711301	3	1	502	1	0	0	0	0	1	0	0	0	9666	710	25	4	808	4	MMP3	11	102711301	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	43500504	102711301	32295215	32	40178											
GUCY1A2	2977	broad.mit.edu	37	chr11	106647281	106647281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggagccctgctgcaaCacagtaggcatcacctattg	10	12	2	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:106647281C>A	ENST00000526355.2	-	6	2188	c.1720G>T	c.(1720-1722)Gtt>Ttt	p.V574F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	574	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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)	CCTGCTGCAACACAGTAGGCA	0.443																																						ENST00000526355.1																			0				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						c.(1720-1722)Gtt>Ttt		guanylate cyclase 1, soluble, alpha 2							111	106	107					11																	106647281		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106647281C>A	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.1720G>T	11.37:g.106647281C>A	ENSP00000431245:p.Val574Phe					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F	p.V574F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	6	2188	-		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)	574			Guanylate cyclase.		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1720G>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958830	0.92726	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86097	-2.07;-1.66;-2.07	5.7	5.7	0.88788	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.39146	U	0.001457	D	0.95404	0.8508	H	0.97186	3.955	0.80722	D	1	D;P;D	0.89917	0.996;0.907;1.0	D;P;D	0.91635	0.92;0.607;0.999	D	0.96579	0.9429	10	0.87932	D	0	.	18.8232	0.92106	0.0:1.0:0.0:0.0	.	595;574;574	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	574;574;595	ENSP00000431245:V574F;ENSP00000282249:V574F;ENSP00000344874:V595F	ENSP00000282249:V574F	V	-	1	0	GUCY1A2	106152491	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.487000	0.81328	2.693000	0.91896	0.650000	0.86243	GTT		0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	31	1	0	1	1	1	4	31					A	106647281	C	A	106647281	3	1	502	1	0	0	0	0	1	0	0	0	6893	478	17	4	490	4	GUCY1A2	11	106647281	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	3935980	106647281	28359235	33	40179											
CRYAB	1410	broad.mit.edu	37	chr11	111779528	111779528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagcaggcttctcttcaCgggtgatgggaatggtgcgc	15	9	2	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:111779528C>T	ENST00000533475.1	-	4	937	c.488G>A	c.(487-489)cGt>cAt	p.R163H	CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	163					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|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 gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.R163H(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|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;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CTTCTCTTCACGGGTGATGGG	0.493																																						ENST00000533475.1																			1	Substitution - Missense(1)	p.R163H(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(487-489)cGt>cAt		crystallin, alpha B							121	111	115					11																	111779528		2201	4297	6498	SO:0001583	missense	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111779528C>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"Heat shock proteins / HSPB"	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.488G>A	11.37:g.111779528C>T	ENSP00000433560:p.Arg163His					CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H	p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	4	937	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|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)	163					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	ENST00000533475.1	37	c.488G>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198260	0.94997	.	.	ENSG00000109846	ENST00000526180;ENST00000533280;ENST00000525823;ENST00000533475;ENST00000527950;ENST00000227251;ENST00000531198;ENST00000528961;ENST00000527899;ENST00000526167	D;D;D;D;D;D;D;D;D;D	0.95724	-2.74;-3.79;-3.79;-2.74;-2.74;-2.74;-2.74;-3.79;-2.74;-3.79	5.97	5.97	0.96955	.	0.165138	0.56097	D	0.000025	D	0.96018	0.8703	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.93998	0.7273	10	0.22706	T	0.39	-6.6279	20.4388	0.99107	0.0:1.0:0.0:0.0	.	163	P02511	CRYAB_HUMAN	H	163;96;96;163;163;163;163;96;163;96	ENSP00000436051:R163H;ENSP00000435046:R96H;ENSP00000435411:R96H;ENSP00000433560:R163H;ENSP00000437149:R163H;ENSP00000227251:R163H;ENSP00000434247:R163H;ENSP00000435960:R96H;ENSP00000436089:R163H;ENSP00000434793:R96H	ENSP00000227251:R163H	R	-	2	0	CRYAB	111284738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.457000	0.66672	2.836000	0.97738	0.655000	0.94253	CGT		0.493	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			16	55	0	0	0	1	0	16	55					T	111779528	C	T	111779528	3	4	502	1	0	0	0	0	1	0	0	0	3906	536	19	1	43	1	CRYAB	11	111779528	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	5132247	111779528	23226988	34	40180											
FAH	2184	broad.mit.edu	37	chr15	80465431	80465431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgggaccactgtctctcCgtgggtggtgcccatggatg	14	10	1	0	rs80338898		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:80465431C>T	ENST00000407106.1	+	10	937	c.782C>T	c.(781-783)cCg>cTg	p.P261L	FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Missense_Mutation_p.P191L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261			P -> L (in TYRSN1). {ECO:0000269|PubMed:9633815}.		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						ACTGTCTCTCCGTGGGTGGTG	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	GRCh37	CM980725	FAH	M	rs80338898	c.(571-573)cCg>cTg		fumarylacetoacetate hydrolase (fumarylacetoacetase)		C	LEU/PRO	0,4406		0,0,2203	201	167	178	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	782	4.6	0.5	15	dbSNP_131	178	1,8599		0,1,4299	no	missense	FAH	NM_000137.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	261/420	80465431	1,13005	2203	4300	6503	SO:0001583	missense	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465431C>T	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.782C>T	15.37:g.80465431C>T	ENSP00000385080:p.Pro261Leu		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000407106.1_Missense_Mutation_p.P261L	p.P191L			P16930	FAAA_HUMAN			8	2810	+			261					B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	c.572C>T	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564425	0.65651	0.0	1.16E-4	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.99282	-5.68;-5.68;-5.68	4.58	4.58	0.56647	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96923	0.9675	10	0.87932	D	0	-17.0625	16.1256	0.81392	0.0:1.0:0.0:0.0	.	261	P16930	FAAA_HUMAN	L	261;261;191	ENSP00000385080:P261L;ENSP00000261755:P261L;ENSP00000454271:P191L	ENSP00000261755:P261L	P	+	2	0	FAH	78252486	1.000000	0.71417	0.522000	0.27862	0.332000	0.28634	6.868000	0.75516	2.082000	0.62665	0.563000	0.77884	CCG		0.577	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			4	52	0	0	0	1	0	4	52					T	80465431	C	T	80465431	3	4	502	1	0	0	0	0	1	0	0	0	5371	652	23	1	816	1	FAH	15	80465431	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		80465431	22065961	35	40181											
ADAMTS17	170691	broad.mit.edu	37	chr15	100695507	100695507	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaagatgagtggtcatcGtcgtggttcatgcccaagct	13	10	2	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:100695507G>A	ENST00000268070.4	-	9	1305	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	400	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGGTCATCGTCGTGGTTCA	0.557																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(1198-1200)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							86	74	78					15																	100695507		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100695507G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1200C>T	15.37:g.100695507G>A							p.D400D	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	9	1305	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		400			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.1200C>T	CCDS10383.1																																																																																				0.557	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		4	12	0	0	0	1	0	4	12					A	100695507	G	A	100695507	2	1	502	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100695507	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	20230076	100695507	1835885	36	40182											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	2	0	0	0	1	0	17	2					A	7577121	G	A	7577121	3	1	502	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7577121	73618089	37	40183											
MYH4	4622	broad.mit.edu	37	chr17	10348674	10348674	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggtgttgatcaggctGgtgttctgtttcaaattaat	10	5	4	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:10348674G>C	ENST00000255381.2	-	36	5285	c.5175C>G	c.(5173-5175)acC>acG	p.T1725T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1725					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						TGATCAGGCTGGTGTTCTGTT	0.418																																						ENST00000255381.2																			0				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						c.(5173-5175)acC>acG		myosin, heavy chain 4, skeletal muscle							167	143	151					17																	10348674		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348674G>C		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.5175C>G	17.37:g.10348674G>C						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T1725T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			36	5285	-			1725						Silent	SNP	ENST00000255381.2	37	c.5175C>G	CCDS11154.1																																																																																				0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		23	84	0	0	0	1	0	23	84					C	10348674	G	C	10348674	2	2	502	1	0	0	0	0	0	0	0	1	10037	1335	47	4		4	MYH4	17	10348674	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	2771553	10348674	70846536	38	40184											
KRT34	3885	broad.mit.edu	37	chr17	39535345	39535345	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagctgagactccacGttggtgatcaggctctgcac	11	13	3	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1084-1086)aaC>aaT		keratin 34							120	103	109					17																	39535345		2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535345G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1086C>T	17.37:g.39535345G>A							p.N362N	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			6	1116	-		Breast(137;0.000496)	362			Coil 2.|Rod.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1086C>T	CCDS11390.1																																																																																				0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		30	50	0	0	0	1	0	30	50					A	39535345	G	A	39535345	2	1	502	1	0	0	0	0	0	0	0	1	8471	1136	40	1		1	KRT34	17	39535345	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	29186671	39535345	41659865	39	40185											
ENGASE	64772	broad.mit.edu	37	chr17	77082120	77082120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgggaggggccccctGctctgctccagctcagctgc	14	16	2	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:77082120G>T	ENST00000579016.1	+	14	1921	c.1921G>T	c.(1921-1923)Gct>Tct	p.A641S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	641						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGGGCCCCCTGCTCTGCTCCA	0.657																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1921-1923)Gct>Tct		endo-beta-N-acetylglucosaminidase							39	47	44					17																	77082120		2144	4250	6394	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77082120G>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1921G>T	17.37:g.77082120G>T	ENSP00000462333:p.Ala641Ser						p.A641S	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			14	1921	+			641					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.1921G>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835708	0.16820	.	.	ENSG00000167280	ENST00000545583	.	.	.	4.5	-3.08	0.05347	.	1.568200	0.03511	N	0.219604	T	0.40322	0.1112	L	0.57536	1.79	0.09310	N	1	B	0.18863	0.031	B	0.13407	0.009	T	0.18999	-1.0319	9	0.34782	T	0.22	-0.148	4.3784	0.11281	0.3636:0.0:0.4137:0.2226	.	641	Q8NFI3	ENASE_HUMAN	S	641	.	ENSP00000438577:A641S	A	+	1	0	ENGASE	74593715	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.078000	0.11375	-0.417000	0.07461	-1.713000	0.00713	GCT		0.657	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		11	39	1	0	1.58986e-06	1	1.64469e-06	11	39					T	77082120	G	T	77082120	3	4	502	1	0	0	0	0	1	0	0	0	5118	1319	46	4	1975	4	ENGASE	17	77082120	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	37546775	77082120	4113090	40	40186											
PTPRM	5797	broad.mit.edu	37	chr18	7888149	7888149	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggagacctgaggggcagaGagcccacctgctcttacccc	13	14	1	3	rs139956933		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:7888149G>C	ENST00000332175.8	+	3	1279	c.242G>C	c.(241-243)aGa>aCa	p.R81T	PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	81	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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)				GAGGGGCAGAGAGCCCACCTG	0.463																																						ENST00000332175.8																			0				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						c.(241-243)aGa>aCa		protein tyrosine phosphatase, receptor type, M							172	178	176					18																	7888149		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888149G>C	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.242G>C	18.37:g.7888149G>C	ENSP00000331418:p.Arg81Thr					PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T	p.R81T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1279	+		Colorectal(10;0.234)	81			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.242G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574379	0.45902	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02015	4.5;4.5;4.5	5.73	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.293935	0.36815	N	0.002386	T	0.02047	0.0064	N	0.21324	0.655	0.80722	D	1	B;B	0.23377	0.084;0.084	B;B	0.26310	0.068;0.068	T	0.54682	-0.8257	10	0.66056	D	0.02	.	6.6443	0.22927	0.0746:0.1291:0.6628:0.1334	.	81;81	A7MBN1;P28827	.;PTPRM_HUMAN	T	81;81;19	ENSP00000331418:R81T;ENSP00000382933:R81T;ENSP00000382927:R19T	ENSP00000331418:R81T	R	+	2	0	PTPRM	7878149	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.283000	0.43470	0.763000	0.33175	0.655000	0.94253	AGA		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			21	92	0	0	0	1	0	21	92					C	7888149	G	C	7888149	3	2	502	1	0	0	0	0	1	0	0	0	12806	942	33	4	252	4	PTPRM	18	7888149	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7888149	70189099	41	40187											
MC5R	4161	broad.mit.edu	37	chr18	13825781	13825781	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgaattcctcatttcAcctgcatttcttggatctca	5	11	4	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:13825781A>G	ENST00000324750.3	+	1	239	c.17A>G	c.(16-18)cAc>cGc	p.H6R	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	6					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCATTTCACCTGCATTTC	0.418																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(16-18)cAc>cGc		melanocortin 5 receptor							89	86	87					18																	13825781		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13825781A>G	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.17A>G	18.37:g.13825781A>G	ENSP00000318077:p.His6Arg						p.H6R	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	239	+			6					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.17A>G	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	A	0.376	-0.931222	0.02359	.	.	ENSG00000176136	ENST00000324750	T	0.36878	1.23	5.39	-5.02	0.02982	.	1.819620	0.02345	N	0.075299	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	T	0.10870	-1.0611	10	0.18710	T	0.47	.	2.7843	0.05369	0.416:0.2995:0.0673:0.2172	.	6	P33032	MC5R_HUMAN	R	6	ENSP00000318077:H6R	ENSP00000318077:H6R	H	+	2	0	MC5R	13815781	0.110000	0.22057	0.002000	0.10522	0.240000	0.25518	2.295000	0.43576	-0.293000	0.08986	-0.714000	0.03626	CAC		0.418	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		11	59	0	0	0	1	0	11	59					G	13825781	A	G	13825781	3	3	502	1	0	0	0	0	1	0	0	0	9367	159	6	3	19	3	MC5R	18	13825781	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	5937632	13825781	64251467	42	40188											
SMARCA4	6597	broad.mit.edu	37	chr19	11143976	11143976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccccaggacctgcaagCgcaggaccgagcccaccgca	10	19	0	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:11143976C>T	ENST00000429416.3	+	27	3838	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.A1186G(2)|p.A1186V(1)|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)				GACCTGCAAGCGCAGGACCGA	0.622			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		4	Substitution - Missense(3)|Unknown(1)	p.A1186G(2)|p.A1186V(1)|p.?(1)	kidney(2)|large_intestine(1)|lung(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						c.(3556-3558)gCg>gTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							46	47	47					19																	11143976		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143976C>T	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.3557C>T	19.37:g.11143976C>T	ENSP00000395654:p.Ala1186Val					SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V	p.A1186V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3841	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1186			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3557C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608844	0.87258	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.124305	0.53938	D	0.000056	D	0.90528	0.7032	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0;1.0;0.995	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.997;0.939;0.985;0.999;0.939	D	0.93506	0.6849	10	0.87932	D	0	-24.4926	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1186;1186;1186;1186;1186;406;1186	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	V	1186;1186;1250;1186;1186;1186;1186;1186	ENSP00000395654:A1186V;ENSP00000350720:A1186V;ENSP00000343896:A1186V;ENSP00000445036:A1186V;ENSP00000392837:A1186V;ENSP00000397783:A1186V;ENSP00000414727:A1186V	ENSP00000343896:A1186V	A	+	2	0	SMARCA4	11004976	1.000000	0.71417	0.904000	0.35570	0.891000	0.51852	7.383000	0.79741	2.488000	0.83962	0.558000	0.71614	GCG		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		13	23	0	0	0	1	0	13	23					T	11143976	C	T	11143976	3	4	502	1	0	0	0	0	1	0	0	0	14770	768	27	1	3655	1	SMARCA4	19	11143976	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		11143976	47985007	43	40189											
LENG9	94059	broad.mit.edu	37	chr19	54974125	54974125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtgccctgtgcagagCggccttgtgctccctcgctt	12	15	0	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:54974125C>T	ENST00000333834.4	-	1	769	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	217							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTGTGCAGAGCGGCCTTGTGC	0.701																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(649-651)ccG>ccA		leukocyte receptor cluster (LRC) member 9							17	18	18					19																	54974125		2124	4174	6298	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54974125C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.651G>A	19.37:g.54974125C>T							p.P217P	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	769	-	Ovarian(34;0.19)		217					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.651G>A	CCDS12895.2																																																																																				0.701	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		5	25	0	0	0	1	0	5	25					T	54974125	C	T	54974125	2	4	502	1	0	0	0	0	0	0	0	1	8725	755	27	1		1	LENG9	19	54974125	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	43830149	54974125	4154858	44	40190											
KIR2DL1	3811	broad.mit.edu	37	chr19	55284915	55284915	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaggggatgtttaaCgacactttgcgcctcattgg	12	9	1	1	rs144426670	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55284915C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.N67N			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(199-201)aaC>aaT		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1		C		1,4347		0,1,2173	97	85	89		201	-2.5	0	19	dbSNP_134	89	1,8377		0,1,4188	no	coding-synonymous	KIR2DL1	NM_014218.2		0,2,6361	TT,TC,CC		0.0119,0.023,0.0157		67/349	55284915	2,12724	2174	4189	6363	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284915C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44074C>T	19.37:g.55284915C>T						KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	p.N67N	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	241	+			67			Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.201C>T																																																																																					0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		5	130	0	0	0	1	0	5	130					T	55284915	C	T	55284915	1	4	502	0	1	0	0	0	0	0	0	0	8316	535	19	1		1	KIR2DL1	19	55284915	Intron	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	310790	55284915	3844068	45	40191											
NCR1	9437	broad.mit.edu	37	chr19	55420628	55420628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtatgacacacccaccctctCggttcatcctggacccgaag	8	16	2	1	rs142626797		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55420628C>T	ENST00000291890.4	+	4	418	c.380C>T	c.(379-381)tCg>tTg	p.S127L	NCR1_ENST00000598576.1_Missense_Mutation_p.S115L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000594765.1_Missense_Mutation_p.S127L|NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	127					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCACCCTCTCGGTTCATCCT	0.483													.|||	1	0.000199681	0.0	0.0	5008	,	,		17541	0.0		0.001	False		,,,				2504	0.0					ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(379-381)tCg>tTg		natural cytotoxicity triggering receptor 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	83	71	75		380,380,95,95,380	1.2	0.4	19	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NCR1	NM_001145457.1,NM_001145458.1,NM_001242356.1,NM_001242357.1,NM_004829.5	145,145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	127/304,127/288,32/210,32/193,127/305	55420628	1,13005	2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420628C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.380C>T	19.37:g.55420628C>T	ENSP00000291890:p.Ser127Leu					NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000291890.4_Missense_Mutation_p.S127L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000598576.1_Missense_Mutation_p.S115L	p.S127L			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	405	+			127					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.380C>T	CCDS12911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.388	1.074674	0.20227	0.0	1.16E-4	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00776	5.71;5.71;5.71;5.71;5.71	3.53	1.23	0.21249	Immunoglobulin-like fold (1);	1.084070	0.07158	N	0.850155	T	0.00784	0.0026	L	0.45228	1.405	0.19575	N	0.999962	P;B;P;B;B;B	0.44429	0.835;0.077;0.614;0.077;0.24;0.086	B;B;B;B;B;B	0.25614	0.062;0.036;0.053;0.036;0.041;0.028	T	0.54098	-0.8344	10	0.56958	D	0.05	.	9.5244	0.39156	0.0:0.6059:0.3941:0.0	.	20;32;127;32;127;127	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	L	127;127;127;32;20	ENSP00000291890:S127L;ENSP00000404434:S127L;ENSP00000339515:S127L;ENSP00000344358:S32L;ENSP00000349972:S20L	ENSP00000291890:S127L	S	+	2	0	NCR1	60112440	0.215000	0.23574	0.430000	0.26722	0.453000	0.32348	0.606000	0.24194	0.433000	0.26313	0.591000	0.81541	TCG		0.483	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			11	34	0	0	0	1	0	11	34					T	55420628	C	T	55420628	3	4	502	1	0	0	0	0	1	0	0	0	10237	893	31	1	394	1	NCR1	19	55420628	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	135713	55420628	3708355	46	40192											
USP9X	8239	broad.mit.edu	37	chrX	41057976	41057976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtagattctttgactgaaAtgtattacattggcacagca	8	6	1	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:41057976A>G	ENST00000324545.8	+	30	5209	c.4576A>G	c.(4576-4578)Atg>Gtg	p.M1526V	USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1526					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						TTTGACTGAAATGTATTACAT	0.318																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				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						c.(4576-4578)Atg>Gtg		ubiquitin specific peptidase 9, X-linked							50	47	48					X																	41057976		2168	4285	6453	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41057976A>G	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.4576A>G	X.37:g.41057976A>G	ENSP00000316357:p.Met1526Val					USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			30	5209	+			1526					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4576A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072947	0.55646	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03496	3.91;3.91	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	M	0.74258	2.255	0.58432	D	0.999997	B;B	0.32188	0.359;0.154	B;B	0.36845	0.234;0.08	T	0.04930	-1.0917	10	0.45353	T	0.12	.	13.6598	0.62361	1.0:0.0:0.0:0.0	.	1526;1526	Q93008-1;Q93008	.;USP9X_HUMAN	V	1526	ENSP00000367558:M1526V;ENSP00000316357:M1526V	ENSP00000316357:M1526V	M	+	1	0	USP9X	40942920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	1.669000	0.50854	0.441000	0.28932	ATG		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	13	0	0	0	1	0	8	13					G	41057976	A	G	41057976	3	3	502	1	0	0	0	0	1	0	0	0	17087	101	4	3	4690	3	USP9X	23	41057976	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		41057976	114212584	47	40193											
GNL3L	54552	broad.mit.edu	37	chrX	54570718	54570718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaatgagttgccaaccGtggctttcaaggccagtacc	11	11	1	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:54570718G>A	ENST00000336470.4	+	8	728	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	197	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTTGCCAACCGTGGCTTTCAA	0.547																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(589-591)Gtg>Atg		guanine nucleotide binding protein-like 3 (nucleolar)-like							84	62	69					X																	54570718		2202	4300	6502	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54570718G>A	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.589G>A	X.37:g.54570718G>A	ENSP00000338573:p.Val197Met					GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M	p.V197M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			8	728	+			197						Missense_Mutation	SNP	ENST00000336470.4	37	c.589G>A	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	g	19.60	3.857758	0.71834	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.15487	2.42;2.42	4.5	3.62	0.41486	.	0.061596	0.64402	D	0.000004	T	0.22704	0.0548	M	0.70275	2.135	0.58432	D	0.999993	D	0.53312	0.959	P	0.45276	0.475	T	0.03555	-1.1025	10	0.59425	D	0.04	-14.9891	10.5343	0.44994	0.1028:0.0:0.8972:0.0	.	197	Q9NVN8	GNL3L_HUMAN	M	197	ENSP00000338573:V197M;ENSP00000354091:V197M	ENSP00000338573:V197M	V	+	1	0	GNL3L	54587443	1.000000	0.71417	0.921000	0.36526	0.787000	0.44495	7.182000	0.77689	2.164000	0.68074	0.597000	0.82753	GTG		0.547	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		12	10	0	0	0	1	0	12	10					A	54570718	G	A	54570718	3	1	502	1	0	0	0	0	1	0	0	0	6538	1145	40	1	615	1	GNL3L	23	54570718	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	13512742	54570718	100699842	48	40194											
ATRX	546	broad.mit.edu	37	chrX	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-													agttcatgttggctgtggtcTcaatcagtttttttgccttc							TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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						GGCTGTGGTCTCAATCAGTTTTTT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(1078-1083)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939666_76939669delTCAA	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.1079_1082delTTGA	X.37:g.76939666_76939669delTCAA	ENSP00000362441:p.Ile360fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	p.IE360fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1293_1296	-			360					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1079_1082delTTGA	CCDS14434.1																																																																																				0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		38	75						38	75	---	---	---	---	-	76939669	TCAA	-	76939666	7	5	502	1	0	1	0	1	0	0	0	0	1208	1551	54	0	6504	0	ATRX	23	76939666	Frame_Shift_Del	DEL	TCAA	TCGA-VM-A8CF-01A-11D-A36O-08	22368948	76939666	78330894	49	40195											
FLNA	2316	broad.mit.edu	37	chrX	153586584	153586584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgatctggacagccaGcaggccctccccggcgtcct	11	18	1	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:153586584G>A	ENST00000369850.3	-	28	4974	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	FLNA_ENST00000360319.4_Silent_p.L1580L|FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000422373.1_Silent_p.L1580L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1580	Interaction with furin. {ECO:0000250}.				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)					TGGACAGCCAGCAGGCCCTCC	0.697																																						ENST00000422373.1																			0				breast(6)	6						c.(4738-4740)Ctg>Ttg		filamin A, alpha							20	22	21					X																	153586584		2070	4186	6256	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153586584G>A	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.4738C>T	X.37:g.153586584G>A						FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.L1580L|FLNA_ENST00000369850.3_Silent_p.L1580L	p.L1580L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			28	4986	-	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)		1580			Interaction with furin (By similarity).		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4738C>T	CCDS48194.1																																																																																				0.697	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	9	0	0	0	1	0	3	9					A	153586584	G	A	153586584	2	1	502	1	0	0	0	0	0	0	0	1	5933	962	34	2		2	FLNA	23	153586584	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	76646918	153586584	1683976	50	40196											
REG1A	5967	broad.mit.edu	37	chr2	79349251	79349251	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccatgaccccaaaaaGgtaggctgcagccttcttta	9	13	1	1			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:79349251G>A	ENST00000233735.1	+	4	424	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.e4+1		regenerating islet-derived 1 alpha							97	88	91					2																	79349251		2203	4300	6503	SO:0001630	splice_region_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349251G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.321+1G>A	2.37:g.79349251G>A							p.K107_splice	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			4	424	+			107			C-type lectin.		P11379|Q4ZG28	Splice_Site	SNP	ENST00000233735.1	37	c.321_splice	CCDS1964.1																																																																																				0.488	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	Silent	28	44	0	0	0	1	0	28	44					A	79349251	G	A	79349251	5	1	503	1	0	0	0	0	0	0	1	0	13210	1014	35	2	331	2	REG1A	2	79349251	Splice_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		79349251	163850122	1	40197											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	43	0	0	0	1	0	30	43					A	209113113	G	A	209113113	3	1	503	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	129763862	209113113	34086260	2	40198											
KY	339855	broad.mit.edu	37	chr3	134323111	134323111	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacataattgcacttgagCgtgtactccagcactgagct	8	12	0	2	rs374489792		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr3:134323111C>T	ENST00000423778.2	-	11	1357	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.T411T	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	432					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						TGCACTTGAGCGTGTACTCCA	0.567																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1231-1233)acG>acA		kyphoscoliosis peptidase		C		0,4200		0,0,2100	61	61	61		1296	-1.4	1	3		61	1,8461		0,1,4230	no	coding-synonymous	KY	NM_178554.4		0,1,6330	TT,TC,CC		0.0118,0.0,0.0079		432/662	134323111	1,12661	2100	4231	6331	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134323111C>T	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.1296G>A	3.37:g.134323111C>T						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.T432T	p.T411T			Q8NBH2	KY_HUMAN			10	1290	-			432					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1233G>A	CCDS46920.1																																																																																				0.567	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		11	27	0	0	0	1	0	11	27					T	134323111	C	T	134323111	2	4	503	1	0	0	0	0	0	0	0	1	8586	755	27	1		1	KY	3	134323111	Silent	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		134323111	63699319	3	40199											
CCDC99	54908	broad.mit.edu	37	chr5	169015540	169015540	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaatgaattacagaatcaAttggataaatgtcgtaatga	7	4	1	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr5:169015540A>G	ENST00000265295.4	+	2	399	c.120A>G	c.(118-120)caA>caG	p.Q40Q	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TACAGAATCAATTGGATAAAT	0.408																																						ENST00000265295.4																			0											c.(118-120)caA>caG		spindle apparatus coiled-coil protein 1							115	110	112					5																	169015540		2203	4300	6503	SO:0001819	synonymous_variant	54908							g.chr5:169015540A>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.120A>G	5.37:g.169015540A>G						SPDL1_ENST00000510751.1_3'UTR	p.Q40Q	NM_017785.4	NP_060255.3					2	399	+									Silent	SNP	ENST00000265295.4	37	c.120A>G	CCDS4370.1																																																																																				0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		6	33	0	0	0	1	0	6	33					G	169015540	A	G	169015540	2	3	503	1	0	0	0	0	0	0	0	1	2876	98	4	3		3	CCDC99	5	169015540	Silent	SNP	A	TCGA-VM-A8CH-01A-12D-A36O-08		169015540	11899720	4	40200											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726459	25726459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggcaatggtcacgccGcccaaaagcttattgagttc	10	13	1	1	rs367946056		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18409	0.0		0.0	False		,,,				2504	0.0					ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(295-297)ggC>ggT		histone cluster 1, H2aa		G		1,4405	2.1+/-5.4	0,1,2202	298	252	268		297	-7.3	0	6		268	0,8600		0,0,4300	no	coding-synonymous	HIST1H2AA	NM_170745.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		99/132	25726459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726459G>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.297C>T	6.37:g.25726459G>A							p.G99G	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	331	-			99						Silent	SNP	ENST00000297012.3	37	c.297C>T	CCDS4562.1																																																																																				0.532	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		64	80	0	0	0	1	0	64	80					A	25726459	G	A	25726459	2	1	503	1	0	0	0	0	0	0	0	1	7128	1074	38	1		1	HIST1H2AA	6	25726459	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		25726459	145388608	5	40201											
TCP10L2	401285	broad.mit.edu	37	chr6	167585686	167585686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagggcacccacccagaGgacccgtgcccgggagctgg	16	14	0	1	rs35001773		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:167585686G>A	ENST00000366832.2	+	2	185	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	18										endometrium(1)|kidney(2)|lung(3)	6						CCCACCCAGAGGACCCGTGCC	0.662																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(52-54)gaG>gaA		t-complex 10-like 2																																				SO:0001819	synonymous_variant	401285							g.chr6:167585686G>A		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.54G>A	6.37:g.167585686G>A							p.E18E	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			2	185	+			18						Silent	SNP	ENST00000366832.2	37	c.54G>A	CCDS47514.1																																																																																				0.662	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		6	15	0	0	0	1	0	6	15					A	167585686	G	A	167585686	2	1	503	1	0	0	0	0	0	0	0	1	15709	991	35	2		2	TCP10L2	6	167585686	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	141859227	167585686	3529381	6	40202											
WEE2	494551	broad.mit.edu	37	chr7	141418984	141418984	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagtgcattaagaggcTggatggatgtgtttatgcaa	12	5	0	1			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr7:141418984T>C	ENST00000397541.2	+	4	1104	c.698T>C	c.(697-699)cTg>cCg	p.L233P	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					ATTAAGAGGCTGGATGGATGT	0.363																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(697-699)cTg>cCg		WEE1 homolog 2 (S. pombe)							118	114	115					7																	141418984		1814	4080	5894	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141418984T>C	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.698T>C	7.37:g.141418984T>C	ENSP00000380675:p.Leu233Pro					WEE2-AS1_ENST00000488785.1_RNA	p.L233P	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			4	1104	+	Melanoma(164;0.0171)		233			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.698T>C	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453358	0.84209	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.65178	-0.14;-0.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107087	0.39834	U	0.001243	T	0.80834	0.4699	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84068	0.0378	10	0.87932	D	0	.	15.6207	0.76805	0.0:0.0:0.0:1.0	.	233	P0C1S8	WEE2_HUMAN	P	233;8	ENSP00000380675:L233P;ENSP00000420388:L8P	ENSP00000380675:L233P	L	+	2	0	WEE2	141065453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.538000	0.82048	2.094000	0.63399	0.454000	0.30748	CTG		0.363	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		50	63	0	0	0	1	0	50	63					C	141418984	T	C	141418984	3	2	503	1	0	0	0	0	1	0	0	0	17342	1580	55	3	712	3	WEE2	7	141418984	Missense_Mutation	SNP	T	TCGA-VM-A8CH-01A-12D-A36O-08		141418984	17719679	7	40203											
KIF24	347240	broad.mit.edu	37	chr9	34306264	34306264	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatacctgcagaatatattGagtgaggtcaactgcttctt	8	8	3	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr9:34306264G>T	ENST00000402558.2	-	2	823	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K	KIF24_ENST00000379166.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	267	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGAATATATTGAGTGAGGTCA	0.353																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(799-801)Caa>Aaa		kinesin family member 24							215	215	215					9																	34306264		1860	4085	5945	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34306264G>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.799C>A	9.37:g.34306264G>T	ENSP00000384433:p.Gln267Lys					KIF24_ENST00000402558.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K	p.Q267K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		3	918	-			267			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.799C>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929660	0.52759	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.74421	-0.82;-0.84;-0.82;-0.84	5.83	5.83	0.93111	Kinesin, motor domain (4);	0.000000	0.39985	N	0.001203	T	0.51753	0.1693	N	0.00122	-2.065	0.25098	N	0.990809	B;B	0.33379	0.357;0.41	B;P	0.47891	0.332;0.56	T	0.62263	-0.6891	10	0.48119	T	0.1	.	15.5961	0.76583	0.0:0.1369:0.8631:0.0	.	267;267	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	K	267	ENSP00000384433:Q267K;ENSP00000368472:Q267K;ENSP00000368464:Q267K;ENSP00000340179:Q267K	ENSP00000340179:Q267K	Q	-	1	0	KIF24	34296264	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.227000	0.65305	2.770000	0.95276	0.655000	0.94253	CAA		0.353	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			61	89	1	0	1.7104e-27	1	1.80542e-27	61	89					T	34306264	G	T	34306264	3	4	503	1	0	0	0	0	1	0	0	0	8292	1299	45	4	3351	4	KIF24	9	34306264	Missense_Mutation	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		34306264	106907167	8	40204											
ARHGAP32	9743	broad.mit.edu	37	chr11	128848708	128848708	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgaaggctcactctcattCcgctgcagctttcgtttaga	8	12	3	2			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr11:128848708C>G	ENST00000310343.9	-	18	2036	c.2037G>C	c.(2035-2037)cgG>cgC	p.R679R	ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R|ARHGAP32_ENST00000524655.1_Silent_p.R605R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	679					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CACTCTCATTCCGCTGCAGCT	0.468																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2035-2037)cgG>cgC		Rho GTPase activating protein 32							89	84	86					11																	128848708		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128848708C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2037G>C	11.37:g.128848708C>G						ARHGAP32_ENST00000524655.1_Silent_p.R605R|ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R	p.R679R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			18	2036	-			679					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2037G>C	CCDS44769.1																																																																																				0.468	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		15	37	0	0	0	1	0	15	37					G	128848708	C	G	128848708	2	3	503	1	0	0	0	0	0	0	0	1	881	842	30	4		4	ARHGAP32	11	128848708	Silent	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		128848708	6157808	9	40205											
NEDD4	4734	broad.mit.edu	37	chr15	56208601	56208601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccactacaaatggctggActgcttacaaggtgaccatc	8	12	0	1			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:56208601A>C	ENST00000508342.1	-	1	728	c.429T>G	c.(427-429)agT>agG	p.S143R	NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	143	Ser-rich.				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)		AAATGGCTGGACTGCTTACAA	0.408																																						ENST00000508342.1																			0				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						c.(427-429)agT>agG		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							210	189	196					15																	56208601		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56208601A>C	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.429T>G	15.37:g.56208601A>C	ENSP00000424827:p.Ser143Arg					NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R	p.S143R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	728	-			143			Ser-rich.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.429T>G		.	.	.	.	.	.	.	.	.	.	A	13.22	2.171587	0.38315	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.42513	0.97;0.97;0.97	4.92	3.6	0.41247	.	17.337900	0.00166	N	0.000000	T	0.34308	0.0893	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.43701	0.815;0.718;0.815	P;B;P	0.45681	0.49;0.296;0.49	T	0.42632	-0.9440	10	0.87932	D	0	.	8.7334	0.34514	0.8695:0.0:0.1305:0.0	.	143;143;143	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	R	143	ENSP00000424827:S143R;ENSP00000345530:S143R;ENSP00000422705:S143R	ENSP00000345530:S143R	S	-	3	2	NEDD4	53995893	0.006000	0.16342	0.768000	0.31515	0.964000	0.63967	1.675000	0.37555	1.988000	0.58038	0.482000	0.46254	AGT		0.408	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		74	88	0	0	0	1	0	74	88					C	56208601	A	C	56208601	3	2	503	1	0	0	0	0	1	0	0	0	10310	272	10	5	3630	5	NEDD4	15	56208601	Missense_Mutation	SNP	A	TCGA-VM-A8CH-01A-12D-A36O-08		56208601	46322791	10	40206											
MEGF11	84465	broad.mit.edu	37	chr15	66210374	66210374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatagggctgcaggtcccGttgttggcacaggagcagag	16	9	0	1			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:66210374G>A	ENST00000409699.2	-	16	2188	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	672	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						TGCAGGTCCCGTTGTTGGCAC	0.612																																						ENST00000395614.1																			0				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								multiple EGF-like-domains 11							94	69	77					15																	66210374		2201	4299	6500	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66210374G>A	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.2016C>T	15.37:g.66210374G>A						MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N				A6BM72	MEG11_HUMAN			0	2076	-								Q17R86|Q6UXS5|Q8ND91|Q96KG6	Translation_Start_Site	SNP	ENST00000409699.2	37		CCDS10213.2																																																																																				0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		14	26	0	0	0	1	0	14	26					A	66210374	G	A	66210374	2	1	503	1	0	0	0	0	0	0	0	1	9461	1136	40	1		1	MEGF11	15	66210374	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	10001773	66210374	36321018	11	40207											
PDILT	204474	broad.mit.edu	37	chr16	20410472	20410472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatctgggtcaggccagCgggcgttagcactaggagac	15	11	2	1	rs372343696		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr16:20410472C>T	ENST00000302451.4	-	2	399	c.151G>A	c.(151-153)Gct>Act	p.A51T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	51					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)	p.A51T(1)		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						GTCAGGCCAGCGGGCGTTAGC	0.577																																						ENST00000302451.4																			1	Substitution - Missense(1)	p.A51T(1)	breast(1)	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						c.(151-153)Gct>Act		protein disulfide isomerase-like, testis expressed		T	THR/ALA	0,4406		0,0,2203	128	116	120		151	2.2	0	16		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDILT	NM_174924.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	51/585	20410472	1,13005	2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410472C>T		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.151G>A	16.37:g.20410472C>T	ENSP00000305465:p.Ala51Thr						p.A51T	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			2	399	-			51					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.151G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	c	8.803	0.933402	0.18206	0.0	1.16E-4	ENSG00000169340	ENST00000302451	T	0.03272	3.99	4.21	2.24	0.28232	Thioredoxin-like fold (2);	0.517494	0.20926	N	0.083189	T	0.02304	0.0071	N	0.20986	0.625	0.09310	N	1	B	0.30511	0.282	B	0.21546	0.035	T	0.47100	-0.9143	10	0.29301	T	0.29	.	6.1347	0.20225	0.0:0.7094:0.1887:0.1018	.	51	Q8N807	PDILT_HUMAN	T	51	ENSP00000305465:A51T	ENSP00000305465:A51T	A	-	1	0	PDILT	20317973	0.001000	0.12720	0.004000	0.12327	0.590000	0.36582	0.189000	0.17037	0.719000	0.32188	-0.185000	0.12909	GCT		0.577	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		46	57	0	0	0	1	0	46	57					T	20410472	C	T	20410472	3	4	503	1	0	0	0	0	1	0	0	0	11674	768	27	1	1647	1	PDILT	16	20410472	Missense_Mutation	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		20410472	69944281	12	40208											
WDR81	124997	broad.mit.edu	37	chr17	1633762	1633762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggaacctgctccgcctGctgacgtcttgttatgttgg	12	13	1	1			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:1633762G>A	ENST00000409644.1	+	2	3756	c.3756G>A	c.(3754-3756)ctG>ctA	p.L1252L	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_De_novo_Start_OutOfFrame|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Silent_p.L49L|WDR81_ENST00000419248.1_Silent_p.L25L|WDR81_ENST00000309182.5_Silent_p.L201L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1252					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)		TGCTCCGCCTGCTGACGTCTT	0.647																																						ENST00000545662.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16								WD repeat domain 81							38	35	36					17																	1633762		2203	4299	6502	SO:0001819	synonymous_variant	124997							g.chr17:1633762G>A	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.3756G>A	17.37:g.1633762G>A						WDR81_ENST00000309182.5_Silent_p.L201L|WDR81_ENST00000419248.1_Silent_p.L25L|WDR81_ENST00000437219.2_Silent_p.L49L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000409644.1_Silent_p.L1252L|WDR81_ENST00000446363.1_Intron				B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	0	8	+								B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Translation_Start_Site	SNP	ENST00000409644.1	37		CCDS54062.1																																																																																				0.647	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		10	13	0	0	0	1	0	10	13					A	1633762	G	A	1633762	2	1	503	1	0	0	0	0	0	0	0	1	17327	1306	46	2		2	WDR81	17	1633762	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		1633762	79561448	13	40209											
KRT23	25984	broad.mit.edu	37	chr17	39092548	39092548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgccatttcaggatgCggctttccagcttcatgttg	12	10	2	0			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:39092548C>T	ENST00000209718.3	-	2	732	c.308G>A	c.(307-309)cGc>cAc	p.R103H	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	103	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTTCAGGATGCGGCTTTCCAG	0.542																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(307-309)cGc>cAc		keratin 23 (histone deacetylase inducible)							93	95	94					17																	39092548		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092548C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.308G>A	17.37:g.39092548C>T	ENSP00000209718:p.Arg103His					KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	p.R103H	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			2	732	-		Breast(137;0.000301)|Ovarian(249;0.15)	103			Coil 1A.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.308G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222531	0.39300	.	.	ENSG00000108244	ENST00000209718	D	0.89617	-2.54	5.73	1.32	0.21799	Filament (1);	0.356387	0.24370	N	0.039108	D	0.85553	0.5723	M	0.65498	2.005	0.09310	N	0.999999	B	0.19706	0.038	B	0.17722	0.019	T	0.77970	-0.2387	10	0.87932	D	0	.	8.754	0.34635	0.0:0.6124:0.0:0.3876	.	103	Q9C075	K1C23_HUMAN	H	103	ENSP00000209718:R103H	ENSP00000209718:R103H	R	-	2	0	KRT23	36346074	0.000000	0.05858	0.002000	0.10522	0.822000	0.46500	0.192000	0.17096	0.292000	0.22492	0.557000	0.71058	CGC		0.542	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			4	122	0	0	0	1	0	4	122					T	39092548	C	T	39092548	3	4	503	1	0	0	0	0	1	0	0	0	8460	768	27	1	992	1	KRT23	17	39092548	Missense_Mutation	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08	37458786	39092548	42102662	14	40210											
FASN	2194	broad.mit.edu	37	chr17	80040931	80040931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagaaggtcttggagaTggccgacatcagcttgggtt	16	8	2	2			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:80040931T>C	ENST00000306749.2	-	33	5844	c.5626A>G	c.(5626-5628)Atc>Gtc	p.I1876V	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1876	Beta-ketoacyl reductase. {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)			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)	GTCTTGGAGATGGCCGACATC	0.647																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				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						c.(5626-5628)Atc>Gtc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						96	90	92					17																	80040931		2198	4299	6497	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040931T>C	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.5626A>G	17.37:g.80040931T>C	ENSP00000304592:p.Ile1876Val					FASN_ENST00000579758.1_5'UTR	p.I1876V	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		33	5844	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1876			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.5626A>G	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	T	4.563	0.104567	0.08731	.	.	ENSG00000169710	ENST00000306749	T	0.26810	1.71	5.05	-3.68	0.04463	.	0.361590	0.27764	N	0.017959	T	0.12987	0.0315	L	0.38838	1.175	0.45554	D	0.998509	B	0.06786	0.001	B	0.11329	0.006	T	0.09862	-1.0655	10	0.44086	T	0.13	-9.6319	0.9864	0.01447	0.2175:0.1847:0.1137:0.4841	.	1876	P49327	FAS_HUMAN	V	1876	ENSP00000304592:I1876V	ENSP00000304592:I1876V	I	-	1	0	FASN	77634220	0.195000	0.23338	0.166000	0.22797	0.073000	0.16967	0.270000	0.18607	-1.217000	0.02604	0.454000	0.30748	ATC		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		24	18	0	0	0	1	0	24	18					C	80040931	T	C	80040931	3	2	503	1	0	0	0	0	1	0	0	0	5683	1464	51	3	1953	3	FASN	17	80040931	Missense_Mutation	SNP	T	TCGA-VM-A8CH-01A-12D-A36O-08	40948383	80040931	1154279	15	40211											
ATRX	546	broad.mit.edu	37	chrX	76938201	76938202	+	Frame_Shift_Del	DEL	AG	AG	-													ctgtgtttctcatcttcagaAgagtcaaaatcttttgtatt							TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chrX:76938201_76938202delAG	ENST00000373344.5	-	9	2760_2761	c.2546_2547delCT	c.(2545-2547)tctfs	p.S850fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	850					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						CATCTTCAGAAGAGTCAAAATC	0.342			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2545-2547)tfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938201_76938202delAG	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.2546_2547delCT	X.37:g.76938203_76938204delAG	ENSP00000362441:p.Ser850fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs	p.S850fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2760_2761	-			850					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2546_2547delCT	CCDS14434.1																																																																																				0.342	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		123	56						123	56	---	---	---	---	-	76938202	AG	-	76938201	7	5	503	1	0	1	0	1	0	0	0	0	1208	59	3	0	5039	0	ATRX	23	76938201	Frame_Shift_Del	DEL	AG	TCGA-VM-A8CH-01A-12D-A36O-08		76938201	78332359	16	40212											
SNX27	81609	broad.mit.edu	37	chr1	151640951	151640951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtctttcctttagtacGtaaattggcacctaatgagt	7	7	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:151640951G>A	ENST00000458013.2	+	7	1109	c.989G>A	c.(988-990)cGt>cAt	p.R330H	SNX27_ENST00000368843.3_Missense_Mutation_p.R330H|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.R237H			Q96L92	SNX27_HUMAN	sorting nexin family member 27	330	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			CCTTTAGTACGTAAATTGGCA	0.378																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(988-990)cGt>cAt		sorting nexin family member 27							113	113	113					1																	151640951		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151640951G>A	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.989G>A	1.37:g.151640951G>A	ENSP00000400333:p.Arg330His					SNX27_ENST00000368838.1_Missense_Mutation_p.R237H|SNX27_ENST00000458013.2_Missense_Mutation_p.R330H|SNX27_ENST00000482791.1_3'UTR	p.R330H	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1109	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		330			Ras-associating.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.989G>A		.	.	.	.	.	.	.	.	.	.	G	19.75	3.884903	0.72410	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	D;D;D	0.82081	-1.57;-1.57;-1.57	5.1	5.1	0.69264	Ras-association (2);	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.91640	0.5326	10	0.87932	D	0	.	17.2485	0.87035	0.0:0.0:1.0:0.0	.	330;330	Q96L92;Q96L92-3	SNX27_HUMAN;.	H	330;330;237	ENSP00000400333:R330H;ENSP00000357836:R330H;ENSP00000357831:R237H	ENSP00000357831:R237H	R	+	2	0	SNX27	149907575	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	8.907000	0.92634	2.656000	0.90262	0.305000	0.20034	CGT		0.378	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		41	66	0	0	0	1	0	41	66					A	151640951	G	A	151640951	3	1	504	1	0	0	0	0	1	0	0	0	14897	1145	40	1	1015	1	SNX27	1	151640951	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		151640951	97609670	1	40213											
FLG	2312	broad.mit.edu	37	chr1	152280155	152280155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaccttcctgctgaccGgccacgtgtggactcttggt	11	14	1	2	rs372607458		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:152280155G>A	ENST00000368799.1	-	3	7242	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2403	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)			CCTGCTGACCGGCCACGTGTG	0.597									Ichthyosis																													ENST00000368799.1																			0				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						c.(7207-7209)Cgg>Tgg		filaggrin		G	TRP/ARG	0,4406		0,0,2203	92	93	92		7207	2.7	0	1		92	1,8593	1.2+/-3.3	0,1,4296	no	missense	FLG	NM_002016.1	101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2403/4062	152280155	1,12999	2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280155G>A	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.7207C>T	1.37:g.152280155G>A	ENSP00000357789:p.Arg2403Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2403W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7242	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2403			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7207C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440669	0.25900	0.0	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01787	4.64	3.65	2.68	0.31781	.	.	.	.	.	T	0.01523	0.0049	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	P	0.47864	0.559	T	0.47573	-0.9107	9	0.72032	D	0.01	.	8.1028	0.30868	0.0:0.0:0.7468:0.2532	.	2403	P20930	FILA_HUMAN	W	2403;313	ENSP00000357789:R2403W	ENSP00000271820:R313W	R	-	1	2	FLG	150546779	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.649000	0.24843	0.813000	0.34350	0.485000	0.47835	CGG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		131	89	0	0	0	1	0	131	89					A	152280155	G	A	152280155	3	1	504	1	0	0	0	0	1	0	0	0	5922	1115	39	1	4982	1	FLG	1	152280155	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	639204	152280155	96970466	2	40214											
HAX1	10456	broad.mit.edu	37	chr1	154246290	154246290	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagacacctggtgagagactAcgggagggacagacacttcg	15	9	0	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:154246290A>T	ENST00000328703.7	+	3	570	c.357A>T	c.(355-357)ctA>ctT	p.L119L	HAX1_ENST00000483970.2_Silent_p.L127L|HAX1_ENST00000457918.2_Silent_p.L71L|HAX1_ENST00000532105.1_De_novo_Start_OutOfFrame	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	119	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|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 transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGAGACTACGGGAGGGAC	0.512									Kostmann syndrome																													ENST00000532105.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15								HCLS1 associated protein X-1							86	91	89					1																	154246290		2203	4300	6503	SO:0001819	synonymous_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246290A>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.357A>T	1.37:g.154246290A>T						HAX1_ENST00000457918.2_Silent_p.L71L|HAX1_ENST00000328703.7_Silent_p.L119L|HAX1_ENST00000483970.2_Silent_p.L127L				O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		0	150	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)							A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Translation_Start_Site	SNP	ENST00000328703.7	37		CCDS1064.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357452	0.24598	.	.	ENSG00000143575	ENST00000435087	T	0.51071	0.72	5.88	-2.27	0.06846	.	.	.	.	.	T	0.03651	0.0104	.	.	.	0.21861	N	0.999503	.	.	.	.	.	.	T	0.30446	-0.9978	6	0.02654	T	1	-7.2944	1.3146	0.02104	0.3721:0.2471:0.2543:0.1266	.	.	.	.	F	98	ENSP00000394920:Y98F	ENSP00000394920:Y98F	Y	+	2	0	HAX1	152512914	0.009000	0.17119	0.063000	0.19743	0.985000	0.73830	-0.024000	0.12435	-0.353000	0.08224	-0.132000	0.14878	TAC		0.512	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		4	82	0	0	0	1	0	4	82					T	154246290	A	T	154246290	2	4	504	1	0	0	0	0	0	0	0	1	6975	378	14	5		5	HAX1	1	154246290	Silent	SNP	A	TCGA-VV-A829-01A-21D-A36O-08	1966135	154246290	95004331	3	40215											
CFHR4	3080	broad.mit.edu	37	chr1	196887466	196887466	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaaattgggatataatgCgaatacatcagttctatcat	8	5	3	0	rs576733857		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:196887466C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.A555V|CFHR4_ENST00000367418.2_Missense_Mutation_p.A309V|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V|CFHR4_ENST00000608469.1_Missense_Mutation_p.A179V			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GGATATAATGCGAATACATCA	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16016	0.0		0.0	False		,,,				2504	0.001					ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(1663-1665)gCg>gTg		complement factor H-related 4							182	189	186					1																	196887466		2202	4300	6502	SO:0001627	intron_variant	10877							g.chr1:196887466C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31119C>T	1.37:g.196887466C>T						CFHR4_ENST00000367418.1_Missense_Mutation_p.A309V|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V	p.A555V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					10	1801	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1664C>T		.	.	.	.	.	.	.	.	.	.	C	6.489	0.458454	0.12342	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.82619	-1.63;-1.63;-1.63	3.24	-0.726	0.11170	Complement control module (1);	.	.	.	.	T	0.79094	0.4388	L	0.43152	1.355	0.09310	N	1	D;D;P	0.63880	0.972;0.993;0.889	B;P;B	0.53490	0.214;0.727;0.17	T	0.67067	-0.5764	9	0.24483	T	0.36	.	5.054	0.14524	0.4163:0.3789:0.2047:0.0	.	555;556;309	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	V	555;309;309;309	ENSP00000356386:A555V;ENSP00000356388:A309V;ENSP00000251424:A309V	ENSP00000251424:A309V	A	+	2	0	CFHR4	195154089	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.230000	0.09083	-0.002000	0.14469	0.436000	0.28706	GCG		0.338	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		33	86	0	0	0	1	0	33	86					T	196887466	C	T	196887466	1	4	504	0	1	0	0	0	0	0	0	0	3287	768	27	1		1	CFHR4	1	196887466	Intron	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	42641176	196887466	52363155	4	40216											
C1orf124	83932	broad.mit.edu	37	chr1	231488995	231488995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccagtcagagcaaaaTggttaattgcccagtttgtc	8	9	2	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:231488995T>C	ENST00000295050.7	+	5	1694	c.1358T>C	c.(1357-1359)aTg>aCg	p.M453T		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	453					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)										CAGAGCAAAATGGTTAATTGC	0.398																																						ENST00000295050.7																			0											c.(1357-1359)aTg>aCg		SprT-like N-terminal domain							62	58	59					1																	231488995		2203	4300	6503	SO:0001583	missense	83932							g.chr1:231488995T>C	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.1358T>C	1.37:g.231488995T>C	ENSP00000295050:p.Met453Thr						p.M453T	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3					5	1694	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.1358T>C	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	T	1.675	-0.507931	0.04231	.	.	ENSG00000010072	ENST00000295050	T	0.38887	1.11	5.41	-4.43	0.03568	Zinc finger, Rad18-type putative (1);	1.524200	0.03360	N	0.197516	T	0.14700	0.0355	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10268	-1.0637	10	0.18276	T	0.48	0.0375	2.7087	0.05168	0.169:0.3088:0.356:0.1662	.	453	Q9H040	CA124_HUMAN	T	453	ENSP00000295050:M453T	ENSP00000295050:M453T	M	+	2	0	C1orf124	229555618	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-1.272000	0.02826	-0.345000	0.08325	-0.307000	0.09154	ATG		0.398	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		25	45	0	0	0	1	0	25	45					C	231488995	T	C	231488995	3	2	504	1	0	0	0	0	1	0	0	0	1992	1464	51	3	1411	3	C1orf124	1	231488995	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	34601529	231488995	17761626	5	40217											
ZNF238	10472	broad.mit.edu	37	chr1	244218559	244218559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggacctgtacagacacattCgcaagttccactgtgagttg	11	10	0	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:244218559C>T	ENST00000358704.4	+	2	1632	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C		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	486					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)										CAGACACATTCGCAAGTTCCA	0.577																																						ENST00000358704.4																			0											c.(1483-1485)Cgc>Tgc		zinc finger and BTB domain containing 18							81	80	80					1																	244218559		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244218559C>T	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.1483C>T	1.37:g.244218559C>T	ENSP00000351539:p.Arg495Cys						p.R495C	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1632	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1483C>T	CCDS1622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185914|3.185914	0.57909|0.57909	.|.	.|.	ENSG00000179456|ENSG00000179456	ENST00000358704|ENST00000366538	T|.	0.11063|.	2.81|.	5.78|5.78	5.78|5.78	0.91487|0.91487	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	0.43010|0.43010	0.1228|0.1228	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.985;0.994|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|6	0.87932|0.51188	D|T	0|0.08	.|.	14.8071|14.8071	0.69965|0.69965	0.144:0.856:0.0:0.0|0.144:0.856:0.0:0.0	.|.	486;495|.	Q99592;Q99592-2|.	ZN238_HUMAN;.|.	C|L	495|483	ENSP00000351539:R495C|.	ENSP00000351539:R495C|ENSP00000355496:S483L	R|S	+|+	1|2	0|0	ZNF238|ZNF238	242285182|242285182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.725000|4.725000	0.61979|0.61979	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.577	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		22	41	0	0	0	1	0	22	41					T	244218559	C	T	244218559	3	4	504	1	0	0	0	0	1	0	0	0	17787	884	31	1	1489	1	ZNF238	1	244218559	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	12729564	244218559	5032062	6	40218											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698690	17698690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggctactgagtgatggGtagtcattttcataacattt	9	5	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:17698690G>A	ENST00000399080.2	-	1	1016	c.993C>T	c.(991-993)taC>taT	p.Y331Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	331										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)					TGAGTGATGGGTAGTCATTTT	0.343																																						ENST00000399080.2																			0				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						c.(991-993)taC>taT		RAD51 associated protein 2							84	76	78					2																	17698690		1806	4075	5881	SO:0001819	synonymous_variant	729475							g.chr2:17698690G>A	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.993C>T	2.37:g.17698690G>A							p.Y331Y	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1016	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		331						Silent	SNP	ENST00000399080.2	37	c.993C>T	CCDS42656.1																																																																																				0.343	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		6	81	0	0	0	1	0	6	81					A	17698690	G	A	17698690	2	1	504	1	0	0	0	0	0	0	0	1	12987	1256	44	2		2	RAD51AP2	2	17698690	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		17698690	225500683	7	40219											
DYSF	8291	broad.mit.edu	37	chr2	71896841	71896841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattttccccttcgactacCtgccagctgagcaagtctgt	7	14	2	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:71896841C>T	ENST00000258104.3	+	50	5909	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L	DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000409762.1_Silent_p.L1895L|DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000429174.2_Silent_p.L1899L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1878	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTCGACTACCTGCCAGCTGA	0.512																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5632-5634)Ctg>Ttg		dysferlin							189	155	166					2																	71896841		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71896841C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5632C>T	2.37:g.71896841C>T						DYSF_ENST00000409762.1_Silent_p.L1895L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000429174.2_Silent_p.L1899L	p.L1878L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			50	5909	+			1878					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.5632C>T	CCDS1918.1																																																																																				0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		25	50	0	0	0	1	0	25	50					T	71896841	C	T	71896841	2	4	504	1	0	0	0	0	0	0	0	1	4859	680	24	2		2	DYSF	2	71896841	Silent	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	54198151	71896841	171302532	8	40220											
C2orf76	130355	broad.mit.edu	37	chr2	120078765	120078765	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaatggtggtggcaggttgGtccttaaagggatatctaca	14	5	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:120078765G>C	ENST00000409466.2	-	4	670	c.149C>G	c.(148-150)aCc>aGc	p.T50S	C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	50										large_intestine(1)|lung(3)|pancreas(1)	5						TGGCAGGTTGGTCCTTAAAGG	0.269																																						ENST00000409466.2																			0				large_intestine(1)|lung(3)|pancreas(1)	5						c.(148-150)aCc>aGc		chromosome 2 open reading frame 76							78	75	76					2																	120078765		1788	4061	5849	SO:0001583	missense	130355							g.chr2:120078765G>C		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.149C>G	2.37:g.120078765G>C	ENSP00000386302:p.Thr50Ser					C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S	p.T50S			Q3KRA6	CB076_HUMAN			4	670	-			50					B7ZLS8|Q4VC35	Missense_Mutation	SNP	ENST00000409466.2	37	c.149C>G	CCDS42739.1	.	.	.	.	.	.	.	.	.	.	G	7.989	0.752807	0.15778	.	.	ENSG00000186132	ENST00000409466;ENST00000334816;ENST00000409877;ENST00000409523;ENST00000414534	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.86	4.86	0.63082	.	0.402907	0.28736	N	0.014304	T	0.22244	0.0536	L	0.33137	0.985	0.30395	N	0.780637	B	0.09022	0.002	B	0.11329	0.006	T	0.08534	-1.0717	10	0.10902	T	0.67	-0.8526	13.6928	0.62556	0.0:0.0:1.0:0.0	.	50	Q3KRA6	CB076_HUMAN	S	50;50;50;50;79	ENSP00000386302:T50S;ENSP00000335041:T50S;ENSP00000387234:T50S;ENSP00000386714:T50S;ENSP00000388482:T79S	ENSP00000335041:T50S	T	-	2	0	C2orf76	119795235	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.368000	0.52357	2.679000	0.91253	0.650000	0.86243	ACC		0.269	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		17	27	0	0	0	1	0	17	27					C	120078765	G	C	120078765	3	2	504	1	0	0	0	0	1	0	0	0	2193	1261	44	4	247	4	C2orf76	2	120078765	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	48181924	120078765	123120608	9	40221											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135911420	135911420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagaaggcaaaggagactcTttgatgatacacgggaagca	12	7	1	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:135911420T>C	ENST00000264158.8	+	19	2306	c.2263T>C	c.(2263-2265)Ttt>Ctt	p.F755L	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	755					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAGACTCTTTGATGATAC	0.418																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2263-2265)Ttt>Ctt		RAB3 GTPase activating protein subunit 1 (catalytic)							99	94	96					2																	135911420		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135911420T>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2263T>C	2.37:g.135911420T>C	ENSP00000264158:p.Phe755Leu					ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L	p.F755L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	19	2306	+			755					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2263T>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	34	5.308875	0.95629	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.68765	-0.34;-0.35;-0.35	5.55	5.55	0.83447	.	0.049558	0.85682	D	0.000000	T	0.81024	0.4737	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82829	-0.0264	10	0.62326	D	0.03	-17.2825	15.7075	0.77594	0.0:0.0:0.0:1.0	.	755;755	C9J837;Q15042	.;RB3GP_HUMAN	L	755;711;755	ENSP00000264158:F755L;ENSP00000444306:F711L;ENSP00000411418:F755L	ENSP00000264158:F755L	F	+	1	0	RAB3GAP1	135627890	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.999000	0.88496	2.117000	0.64856	0.533000	0.62120	TTT		0.418	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		4	56	0	0	0	1	0	4	56					C	135911420	T	C	135911420	3	2	504	1	0	0	0	0	1	0	0	0	12935	1609	56	3	2337	3	RAB3GAP1	2	135911420	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	15832655	135911420	107287953	10	40222											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	38	0	0	0	1	0	21	38					T	209113112	C	T	209113112	3	4	504	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	73201692	209113112	34086261	11	40223											
FAM194A	131831	broad.mit.edu	37	chr3	150396333	150396333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagaaattgtttttaagcGctttgaatctagtgggaaaa	9	3	1	2	rs578028416		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:150396333G>A	ENST00000295910.6	-	10	1172	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	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						GTTTTTAAGCGCTTTGAATCT	0.269													G|||	1	0.000199681	0.0	0.0	5008	,	,		14614	0.001		0.0	False		,,,				2504	0.0					ENST00000295910.6																			0				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						c.(1120-1122)Cgc>Tgc		family with sequence similarity 194, member A							52	51	51					3																	150396333		2200	4292	6492	SO:0001583	missense	131831							g.chr3:150396333G>A																												ENST00000295910.6:c.1120C>T	3.37:g.150396333G>A	ENSP00000295910:p.Arg374Cys					FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	p.R374C	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			10	1172	-			374						Missense_Mutation	SNP	ENST00000295910.6	37	c.1120C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563942	0.45694	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14640	2.7;2.49	3.85	2.94	0.34122	.	0.774358	0.11167	N	0.592406	T	0.12347	0.0300	N	0.22421	0.69	0.80722	D	1	D	0.56521	0.976	P	0.44696	0.458	T	0.11324	-1.0592	10	0.66056	D	0.02	-2.5408	11.6362	0.51204	0.0:0.0:0.8202:0.1798	.	374	Q7L0X2	F194A_HUMAN	C	374;228;332	ENSP00000295910:R374C;ENSP00000419366:R228C	ENSP00000295910:R374C	R	-	1	0	FAM194A	151879023	0.006000	0.16342	0.004000	0.12327	0.330000	0.28571	1.480000	0.35464	0.901000	0.36495	0.557000	0.71058	CGC		0.269	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			18	45	0	0	0	1	0	18	45					A	150396333	G	A	150396333	3	1	504	1	0	0	0	0	1	0	0	0	5526	1087	38	1	891	1	FAM194A	3	150396333	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		150396333	47626097	12	40224											
RTP1	132112	broad.mit.edu	37	chr3	186917640	186917640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaccgcggagagttctgcGaggcctgccaggagggcatc	17	12	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:186917640G>A	ENST00000312295.4	+	2	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	192					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)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(574-576)Gag>Aag		receptor (chemosensory) transporter protein 1							35	35	35					3																	186917640		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917640G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"Receptor transporter proteins"	28580	protein-coding gene	gene with protein product	"receptor transporting protein 1", "zinc finger, 3CxxC-type 1"	609137	"receptor transporter protein 1"			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.574G>A	3.37:g.186917640G>A	ENSP00000311712:p.Glu192Lys					RP11-208N14.4_ENST00000356133.3_RNA	p.E192K	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	604	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		192						Missense_Mutation	SNP	ENST00000312295.4	37	c.574G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972894	0.92919	.	.	ENSG00000175077	ENST00000312295	T	0.26957	1.7	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.81682	2.555	0.31330	N	0.684998	D	0.76494	0.999	D	0.63703	0.917	T	0.61778	-0.6993	10	0.87932	D	0	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	192	P59025	RTP1_HUMAN	K	192	ENSP00000311712:E192K	ENSP00000311712:E192K	E	+	1	0	RTP1	188400334	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.691000	0.68249	2.711000	0.92665	0.561000	0.74099	GAG		0.701	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		27	16	0	0	0	1	0	27	16					A	186917640	G	A	186917640	3	1	504	1	0	0	0	0	1	0	0	0	13733	1059	37	1	580	1	RTP1	3	186917640	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	36521307	186917640	11104790	13	40225											
MAN2B2	23324	broad.mit.edu	37	chr4	6596402	6596402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacttccgtgccctgcacGctctcaatgtcacctggcgt	8	16	2	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:6596402G>A	ENST00000285599.3	+	7	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	334					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGCCCTGCACGCTCTCAATGT	0.622																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1000-1002)Gct>Act		mannosidase, alpha, class 2B, member 2							108	83	92					4																	6596402		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6596402G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1000G>A	4.37:g.6596402G>A	ENSP00000285599:p.Ala334Thr					MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	p.A334T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			7	1036	+			334					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1000G>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	8.618	0.890837	0.17613	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.23950	1.88;1.88	4.43	1.72	0.24424	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	1.019020	0.07795	N	0.955494	T	0.23330	0.0564	L	0.60904	1.88	0.09310	N	1	B;B;B	0.20988	0.024;0.024;0.05	B;B;B	0.14578	0.007;0.011;0.005	T	0.37776	-0.9691	10	0.15066	T	0.55	-0.0361	7.3384	0.26623	0.4922:0.0:0.5078:0.0	.	283;334;334	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	T	334;283	ENSP00000285599:A334T;ENSP00000423129:A283T	ENSP00000285599:A334T	A	+	1	0	MAN2B2	6647303	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	0.251000	0.18257	0.020000	0.15106	0.472000	0.43445	GCT		0.622	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		8	23	0	0	0	1	0	8	23					A	6596402	G	A	6596402	3	1	504	1	0	0	0	0	1	0	0	0	9217	1087	38	1	1026	1	MAN2B2	4	6596402	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		6596402	184557874	14	40226											
ARSJ	79642	broad.mit.edu	37	chr4	114899934	114899934	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctagcatctttccaggacaGacacaggcctgtggagaagg	13	10	1	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:114899934G>A	ENST00000315366.7	-	1	923	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Silent_p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	19					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)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCCAGGACAGACACAGGCCT	0.627																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(55-57)gtC>gtT		arylsulfatase family, member J							103	113	110					4																	114899934		1964	4125	6089	SO:0001819	synonymous_variant	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114899934G>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.57C>T	4.37:g.114899934G>A						ARSJ_ENST00000541197.1_Silent_p.V19V|ARSJ_ENST00000503013.2_5'UTR	p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	1	923	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	19					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	c.57C>T	CCDS43264.1																																																																																				0.627	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		6	152	0	0	0	1	0	6	152					A	114899934	G	A	114899934	2	1	504	1	0	0	0	0	0	0	0	1	995	929	33	2		2	ARSJ	4	114899934	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	108303532	114899934	76254342	15	40227											
EDNRA	1909	broad.mit.edu	37	chr4	148407074	148407074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattacttcagctttcaaaTacattaacactgtgatatct	3	8	3	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:148407074T>G	ENST00000324300.5	+	2	756	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	81					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|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 inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGCTTTCAAATACATTAACAC	0.418																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(241-243)Tac>Gac		endothelin receptor type A	Bosentan(DB00559)						155	147	150					4																	148407074		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148407074T>G	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.241T>G	4.37:g.148407074T>G	ENSP00000315011:p.Tyr81Asp					EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D	p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	756	+	all_hematologic(180;0.151)		81					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.241T>G	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357658	0.82243	.	.	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.63924	-0.6527	10	0.72032	D	0.01	-22.3923	16.4484	0.83959	0.0:0.0:0.0:1.0	.	81;81;81	P25101-4;P25101-2;P25101	.;.;EDNRA_HUMAN	D	81	ENSP00000351359:Y81D;ENSP00000341556:Y81D;ENSP00000315011:Y81D;ENSP00000425281:Y81D	ENSP00000315011:Y81D	Y	+	1	0	EDNRA	148626524	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.649000	0.83500	2.285000	0.76669	0.533000	0.62120	TAC		0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			4	118	0	0	0	1	0	4	118					G	148407074	T	G	148407074	3	3	504	1	0	0	0	0	1	0	0	0	4919	1406	49	5	243	5	EDNRA	4	148407074	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	33507140	148407074	42747202	16	40228											
DST	667	broad.mit.edu	37	chr6	56484991	56484994	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gagttcttcctcattgtctcTctttcttcttaattcttcca							TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:56484991_56484994delTCTT	ENST00000370765.6	-	23	3945_3948	c.3838_3841delAAGA	c.(3838-3843)aagagafs	p.KR1280fs	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	737					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)			TCATTGTCTCTCTTTCTTCTTAAT	0.338																																						ENST00000370765.6																			0				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						c.(3838-3843)gafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484991_56484994delTCTT	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.3838_3841delAAGA	6.37:g.56484995_56484998delTCTT	ENSP00000359801:p.Lys1280fs					DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	p.KR1280fs	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3945_3948	-	Lung NSC(77;0.103)		4932					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000370765.6	37	c.3838_3841delAAGA	CCDS4959.1																																																																																				0.338	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		32	49						32	49	---	---	---	---	-	56484994	TCTT	-	56484991	7	5	504	1	0	1	0	1	0	0	0	0	4783	1559	54	0	16562	0	DST	6	56484991	Frame_Shift_Del	DEL	TCTT	TCGA-VV-A829-01A-21D-A36O-08		56484991	114630076	17	40229											
ESR1	2099	broad.mit.edu	37	chr6	152419955	152419955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatgctggacgcccacCgcctacatgcgcccactagc	11	16	0	1	rs182943916		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:152419955C>T	ENST00000206249.3	+	8	2004	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	ESR1_ENST00000456483.2_Missense_Mutation_p.R436C|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000443427.1_Missense_Mutation_p.R548C|ESR1_ENST00000440973.1_Missense_Mutation_p.R548C	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	548	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGACGCCCACCGCCTACATGC	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18085	0.0		0.0	False		,,,				2504	0.0					ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49	GRCh37	CM057965	ESR1	M	rs182943916	c.(1642-1644)Cgc>Tgc		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						84	74	78					6																	152419955		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152419955C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1642C>T	6.37:g.152419955C>T	ENSP00000206249:p.Arg548Cys					ESR1_ENST00000443427.1_Missense_Mutation_p.R548C|ESR1_ENST00000206249.3_Missense_Mutation_p.R548C|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R436C	p.R548C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2012	+		Ovarian(120;0.0448)	548			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1642C>T	CCDS5234.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.1	4.491337	0.84962	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.93076	-3.16;-3.16;-2.62;-3.16;-3.16;-0.53	5.46	5.46	0.80206	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.999;0.999	D;D;D;D;P;P;P	0.87578	0.998;0.912;0.917;0.963;0.653;0.812;0.653	D	0.96862	0.9633	10	0.66056	D	0.02	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	223;113;287;475;547;548;548	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	C	548;548;436;223;548;548;287;135;476	ENSP00000405330:R548C;ENSP00000342630:R548C;ENSP00000415934:R436C;ENSP00000387500:R548C;ENSP00000206249:R548C;ENSP00000384064:R287C	ENSP00000206249:R548C	R	+	1	0	ESR1	152461648	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.854000	0.55949	2.573000	0.86826	0.655000	0.94253	CGC		0.577	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			12	17	0	0	0	1	0	12	17					T	152419955	C	T	152419955	3	4	504	1	0	0	0	0	1	0	0	0	5256	652	23	1	1672	1	ESR1	6	152419955	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	95934964	152419955	18695112	18	40230											
FNDC1	84624	broad.mit.edu	37	chr6	159657261	159657261	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaggttataatggcagaCcaaatgtagaagggaaagtc	13	4	0	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:159657261C>G	ENST00000297267.9	+	12	4182	c.3982C>G	c.(3982-3984)Cca>Gca	p.P1328A	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1328					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)				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)		TAATGGCAGACCAAATGTAGA	0.408																																						ENST00000297267.9																			0				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						c.(3982-3984)Cca>Gca		fibronectin type III domain containing 1							77	72	73					6																	159657261		1836	4081	5917	SO:0001583	missense	84624					extracellular region		g.chr6:159657261C>G	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.3982C>G	6.37:g.159657261C>G	ENSP00000297267:p.Pro1328Ala					FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	p.P1328A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	12	4182	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1328					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3982C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.31|12.31	1.898346|1.898346	0.33535|0.33535	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.13657|.	2.57;3.4|.	5.09|5.09	4.21|4.21	0.49690|0.49690	.|.	0.061998|.	0.64402|.	N|.	0.000004|.	T|T	0.61961|0.61961	0.2389|0.2389	M|M	0.62723|0.62723	1.935|1.935	0.47441|0.47441	D|D	0.999423|0.999423	D;P|.	0.55605|.	0.972;0.618|.	P;B|.	0.47075|.	0.536;0.142|.	T|T	0.63269|0.63269	-0.6675|-0.6675	10|5	0.51188|.	T|.	0.08|.	-4.9301|-4.9301	16.0773|16.0773	0.80976|0.80976	0.0:0.8659:0.134:0.0|0.0:0.8659:0.134:0.0	.|.	1265;1328|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	A|S	1328;1265|1223	ENSP00000297267:P1328A;ENSP00000342460:P1265A|.	ENSP00000297267:P1328A|.	P|T	+|+	1|2	0|0	FNDC1|FNDC1	159577251|159577251	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.446000|0.446000	0.32137|0.32137	2.142000|2.142000	0.42177|0.42177	1.236000|1.236000	0.43740|0.43740	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.408	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		14	17	0	0	0	1	0	14	17					G	159657261	C	G	159657261	3	3	504	1	0	0	0	0	1	0	0	0	5968	507	18	4	4028	4	FNDC1	6	159657261	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	7237306	159657261	11457806	19	40231											
ZAN	7455	broad.mit.edu	37	chr7	100348461	100348461	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgcgtggggtctcagcGcccttactggcagaacacct	12	13	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:100348461G>A	ENST00000348028.3	+	0	1628				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_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)			GGGTCTCAGCGCCCTTACTGG	0.622																																						ENST00000542585.1																			0				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								zonadhesin (gene/pseudogene)							33	35	34					7																	100348461		1988	4137	6125			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348461G>A	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.100348461G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1611	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	10.08	1.252330	0.22880	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02032	4.49;4.49;4.49	4.52	2.46	0.29980	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.857514	0.09920	N	0.738573	T	0.02533	0.0077	L	0.39898	1.24	0.20196	N	0.999926	P;P	0.47604	0.876;0.898	B;B	0.39738	0.205;0.308	T	0.49790	-0.8902	10	0.46703	T	0.11	.	7.4567	0.27270	0.231:0.0:0.769:0.0	.	488;488	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	488	ENSP00000445943:R488H;ENSP00000445091:R488H;ENSP00000444427:R488H	ENSP00000423579:R488H	R	+	2	0	ZAN	100186397	0.048000	0.20356	0.069000	0.20011	0.191000	0.23601	0.257000	0.18369	0.475000	0.27415	0.650000	0.86243	CGC		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		17	21	0	0	0	1	0	17	21					A	100348461	G	A	100348461	1	1	504	0	1	0	0	0	0	0	0	0	17510	1087	38	1		1	ZAN	7	100348461	RNA	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		100348461	58790202	20	40232											
NOTCH1	4851	broad.mit.edu	37	chr9	139407856	139407856	+	Frame_Shift_Del	DEL	C	C	-													ccactcaccgctgaagccctCccggcaggtgcacacgtagc							TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr9:139407856delC	ENST00000277541.6	-	14	2416	c.2341delG	c.(2341-2343)gagfs	p.E781fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	781	EGF-like 20. {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)		CTGAAGCCCTCCCGGCAGGTG	0.607			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(2341-2343)agfs		notch 1							69	81	77					9																	139407856		2189	4279	6468	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139407856delC	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.2341delG	9.37:g.139407856delC	ENSP00000277541:p.Glu781fs	HNSCC(8;0.001)					p.E781fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	14	2416	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	781			EGF-like 20.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.2341delG	CCDS43905.1																																																																																				0.607	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	18						10	18	---	---	---	---	-	139407856	C	-	139407856	7	5	504	1	0	1	0	1	0	0	0	0	10547	864	30	0	5410	0	NOTCH1	9	139407856	Frame_Shift_Del	DEL	C	TCGA-VV-A829-01A-21D-A36O-08		139407856	1805575	21	40233											
PPRC1	23082	broad.mit.edu	37	chr10	103900609	103900609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgggaagtggcctagcCttccagagactcccacaggg	12	13	0	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr10:103900609C>T	ENST00000278070.2	+	5	2383	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	782	Pro-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGCCTAGCCTTCCAGAGAC	0.582																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2344-2346)Ctt>Ttt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							88	95	92					10																	103900609		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900609C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2344C>T	10.37:g.103900609C>T	ENSP00000278070:p.Leu782Phe					PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2383	+		Colorectal(252;0.122)	782			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2344C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115120	0.56505	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.35048	1.35;1.33	5.41	4.46	0.54185	.	0.197441	0.34088	N	0.004271	T	0.33265	0.0857	L	0.32530	0.975	0.35040	D	0.759678	D;D;D	0.56521	0.959;0.976;0.959	P;P;P	0.54060	0.556;0.741;0.556	T	0.29822	-0.9999	10	0.25106	T	0.35	.	5.7584	0.18186	0.2279:0.5831:0.1169:0.0722	.	782;662;782	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	F	782	ENSP00000278070:L782F;ENSP00000399743:L782F	ENSP00000278070:L782F	L	+	1	0	PPRC1	103890599	0.119000	0.22226	1.000000	0.80357	0.909000	0.53808	0.927000	0.28818	2.704000	0.92352	0.561000	0.74099	CTT		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		38	40	0	0	0	1	0	38	40					T	103900609	C	T	103900609	3	4	504	1	0	0	0	0	1	0	0	0	12410	681	24	2	2362	2	PPRC1	10	103900609	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		103900609	31634138	22	40234											
OR5AS1	219447	broad.mit.edu	37	chr11	55797924	55797924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaattacaccatgccaacTgagttcctatttgttggatt	7	8	0	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:55797924T>C	ENST00000313555.1	+	1	30	c.30T>C	c.(28-30)acT>acC	p.T10T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCATGCCAACTGAGTTCCTAT	0.383																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(28-30)acT>acC		olfactory receptor, family 5, subfamily AS, member 1							100	96	97					11																	55797924		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55797924T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.30T>C	11.37:g.55797924T>C							p.T10T	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	30	+	Esophageal squamous(21;0.00693)		10					Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.30T>C	CCDS31516.1																																																																																				0.383	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		18	47	0	0	0	1	0	18	47					C	55797924	T	C	55797924	2	2	504	1	0	0	0	0	0	0	0	1	11146	1567	55	3		3	OR5AS1	11	55797924	Silent	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		55797924	79208592	23	40235											
APOA4	337	broad.mit.edu	37	chr11	116692097	116692097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcgtgtcctgagcaTagggagccaggctgcggcgc	15	13	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:116692097T>C	ENST00000357780.3	-	3	791	c.677A>G	c.(676-678)tAt>tGt	p.Y226C		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	226	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTCCTGAGCATAGGGAGCCAG	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(676-678)tAt>tGt		apolipoprotein A-IV							135	136	136					11																	116692097		2201	4292	6493	SO:0001583	missense	337							g.chr11:116692097T>C		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.677A>G	11.37:g.116692097T>C	ENSP00000350425:p.Tyr226Cys						p.Y226C	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	791	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.677A>G	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774021	0.49786	.	.	ENSG00000110244	ENST00000357780	T	0.77489	-1.1	4.96	-2.84	0.05751	Apolipoprotein/apolipophorin (1);	0.707352	0.12990	N	0.422589	D	0.86948	0.6056	M	0.86740	2.835	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.80101	-0.1523	10	0.56958	D	0.05	-3.6747	12.5976	0.56478	0.6:0.0:0.0:0.4	.	226	P06727	APOA4_HUMAN	C	226	ENSP00000350425:Y226C	ENSP00000350425:Y226C	Y	-	2	0	APOA4	116197307	0.000000	0.05858	0.000000	0.03702	0.917000	0.54804	0.365000	0.20348	-0.214000	0.10078	0.460000	0.39030	TAT		0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		7	164	0	0	0	1	0	7	164					C	116692097	T	C	116692097	3	2	504	1	0	0	0	0	1	0	0	0	783	1406	49	3	517	3	APOA4	11	116692097	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	60894173	116692097	18314419	24	40236											
TAS2R7	50837	broad.mit.edu	37	chr12	10954500	10954500	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgggcttctgtgctggggtCtctgcaccctgtggcactga	14	11	2	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:10954500C>T	ENST00000240687.2	-	1	726	c.670G>A	c.(670-672)Gac>Aac	p.D224N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	224					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)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTGCTGGGGTCTCTGCACCCT	0.517																																						ENST00000240687.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(670-672)Gac>Aac		taste receptor, type 2, member 7							85	88	87					12																	10954500		2203	4300	6503	SO:0001583	missense	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954500C>T	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.670G>A	12.37:g.10954500C>T	ENSP00000240687:p.Asp224Asn						p.D224N	NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN			1	726	-			224					Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	37	c.670G>A	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205664	0.58234	.	.	ENSG00000121377	ENST00000240687	T	0.36699	1.24	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.459060	0.20274	N	0.095616	T	0.58779	0.2146	M	0.78801	2.425	0.30985	N	0.722089	D	0.89917	1.0	D	0.91635	0.999	T	0.64385	-0.6420	10	0.87932	D	0	.	9.9291	0.41512	0.0:0.9099:0.0:0.0901	.	224	Q9NYW3	TA2R7_HUMAN	N	224	ENSP00000240687:D224N	ENSP00000240687:D224N	D	-	1	0	TAS2R7	10845767	0.006000	0.16342	0.694000	0.30210	0.322000	0.28314	0.453000	0.21811	2.793000	0.96121	0.650000	0.86243	GAC		0.517	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			23	22	0	0	0	1	0	23	22					T	10954500	C	T	10954500	3	4	504	1	0	0	0	0	1	0	0	0	15583	913	32	2	290	2	TAS2R7	12	10954500	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		10954500	122897395	25	40237											
ESYT1	23344	broad.mit.edu	37	chr12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctacatggcgttttgCgggtgatactggagccactc	12	11	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				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						TGGCGTTTTGCGGGTGATACT	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(730-732)Cgg>Tgg		extended synaptotagmin-like protein 1							192	199	197					12																	56525276		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525276C>T	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.730C>T	12.37:g.56525276C>T	ENSP00000377612:p.Arg244Trp					ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W	p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	994	+			244					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.730C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426900	0.62733	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	4.85	0.62838	.	0.113750	0.64402	D	0.000016	D	0.91630	0.7355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92360	0.5896	10	0.87932	D	0	-26.1118	15.8705	0.79117	0.1355:0.8644:0.0:0.0	.	244;244	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	244;198;244;244	ENSP00000377612:R244W;ENSP00000267113:R244W;ENSP00000445952:R244W	ENSP00000267113:R244W	R	+	1	2	ESYT1	54811543	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	2.663000	0.46774	2.906000	0.99361	0.655000	0.94253	CGG		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	180	0	0	0	1	0	4	180					T	56525276	C	T	56525276	3	4	504	1	0	0	0	0	1	0	0	0	5264	759	27	1	752	1	ESYT1	12	56525276	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	45570776	56525276	77326619	26	40238											
TMPO	7112	broad.mit.edu	37	chr12	98927458	98927458	+	Intron	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactcactaccttaggtctaGaagtggctaagcaatcacag	8	11	3	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:98927458G>A	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.E475K|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							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)	p.E475*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTAGGTCTAGAAGTGGCTAA	0.388																																						ENST00000266732.4																			1	Substitution - Nonsense(1)	p.E475*(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1423-1425)Gaa>Aaa		thymopoietin							139	120	126					12																	98927458		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927458G>A		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.565+1842G>A	12.37:g.98927458G>A						TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron	p.E475K	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1661	+			0					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1423G>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491919	0.26774	.	.	ENSG00000120802	ENST00000266732	T	0.61627	0.09	5.65	5.65	0.86999	.	0.215070	0.39274	N	0.001413	T	0.50582	0.1624	N	0.24115	0.695	0.80722	D	1	B	0.32010	0.351	B	0.38616	0.277	T	0.54323	-0.8311	10	0.72032	D	0.01	-16.9242	15.5961	0.76583	0.0:0.0:1.0:0.0	.	475	P42166	LAP2A_HUMAN	K	475	ENSP00000266732:E475K	ENSP00000266732:E475K	E	+	1	0	TMPO	97451589	1.000000	0.71417	0.979000	0.43373	0.082000	0.17680	4.431000	0.59915	2.827000	0.97445	0.650000	0.86243	GAA		0.388	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		29	41	0	0	0	1	0	29	41					A	98927458	G	A	98927458	1	1	504	0	1	0	0	0	0	0	0	0	16234	943	33	2		2	TMPO	12	98927458	Intron	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	42402182	98927458	34924437	27	40239											
APEX1	328	broad.mit.edu	37	chr14	20925577	20925577	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gattactttttgttgtcccaCtctctgttacctgcattgtg	7	10	1	0	rs565835054		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr14:20925577C>G	ENST00000216714.3	+	5	1135	c.867C>G	c.(865-867)caC>caG	p.H289Q	OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	289	Mitochondrial targeting sequence (MTS).				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)	TGTTGTCCCACTCTCTGTTAC	0.488								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(865-867)caC>caG	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						229	200	210					14																	20925577		2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925577C>G	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.867C>G	14.37:g.20925577C>G	ENSP00000216714:p.His289Gln					APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q|APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000557054.1_3'UTR	p.H289Q	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1135	+	all_cancers(95;0.00123)	all_lung(585;0.235)	289			Mitochondrial targeting sequence (MTS).		Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.867C>G	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256855	0.22965	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000398030;ENST00000557054	T;T;T	0.62498	0.02;0.02;0.02	6.06	-3.59	0.04583	Endonuclease/exonuclease/phosphatase (2);	0.751719	0.13631	N	0.373688	T	0.23094	0.0558	N	0.01109	-1.01	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.17745	-1.0359	10	0.30854	T	0.27	.	4.0884	0.09958	0.0962:0.1593:0.4578:0.2866	.	289	P27695	APEX1_HUMAN	Q	289;289;289;20	ENSP00000451979:H289Q;ENSP00000216714:H289Q;ENSP00000381111:H289Q	ENSP00000216714:H289Q	H	+	3	2	APEX1	19995417	0.000000	0.05858	0.888000	0.34837	0.998000	0.95712	-1.348000	0.02629	-0.581000	0.05937	0.655000	0.94253	CAC		0.488	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		58	24	0	0	0	1	0	58	24					G	20925577	C	G	20925577	3	3	504	1	0	0	0	0	1	0	0	0	769	564	20	4	881	4	APEX1	14	20925577	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		20925577	86423963	28	40240											
DIS3L	115752	broad.mit.edu	37	chr15	66618626	66618626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggccttgctgcgccagCaccctcctccacaccaggag	9	18	1	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:66618626C>T	ENST00000319212.4	+	12	2175	c.2125C>T	c.(2125-2127)Cac>Tac	p.H709Y	DIS3L_ENST00000319194.5_Missense_Mutation_p.H626Y|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	709					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						GCTGCGCCAGCACCCTCCTCC	0.537																																						ENST00000319194.5																			0				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						c.(1876-1878)Cac>Tac		DIS3 mitotic control homolog (S. cerevisiae)-like							59	62	61					15																	66618626		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618626C>T		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.2125C>T	15.37:g.66618626C>T	ENSP00000321711:p.His709Tyr					DIS3L_ENST00000319212.4_Missense_Mutation_p.H709Y|RP11-352G18.2_ENST00000565993.1_RNA	p.H626Y	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	2137	+			709					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.1876C>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032819	0.93575	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.53206	0.63;0.63	5.69	5.69	0.88448	Ribonuclease II/R (2);	0.135414	0.64402	N	0.000002	T	0.81945	0.4930	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.989;0.989	D	0.88787	0.3275	10	0.87932	D	0	-30.7845	18.7966	0.91997	0.0:1.0:0.0:0.0	.	709;575;709	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	Y	626;709	ENSP00000321583:H626Y;ENSP00000321711:H709Y	ENSP00000321583:H626Y	H	+	1	0	DIS3L	64405680	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	7.708000	0.84633	2.687000	0.91594	0.462000	0.41574	CAC		0.537	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		8	64	0	0	0	1	0	8	64					T	66618626	C	T	66618626	3	4	504	1	0	0	0	0	1	0	0	0	4536	710	25	2	2171	2	DIS3L	15	66618626	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		66618626	35912766	29	40241											
ANKS4B	257629	broad.mit.edu	37	chr16	21245084	21245084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcgttaccaccaagctgCtagtgatagttacctggaac	8	11	0	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:21245084C>T	ENST00000311620.5	+	1	99	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	9					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CACCAAGCTGCTAGTGATAGT	0.488																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(25-27)gCt>gTt		ankyrin repeat and sterile alpha motif domain containing 4B							208	199	202					16																	21245084		1960	4149	6109	SO:0001583	missense	257629							g.chr16:21245084C>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.26C>T	16.37:g.21245084C>T	ENSP00000308772:p.Ala9Val						p.A9V	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	99	+			9						Missense_Mutation	SNP	ENST00000311620.5	37	c.26C>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413671	0.96072	.	.	ENSG00000175311	ENST00000311620	T	0.72167	-0.63	5.22	5.22	0.72569	Ankyrin repeat-containing domain (1);	0.058505	0.64402	D	0.000003	T	0.81178	0.4768	M	0.67700	2.07	0.80722	D	1	D	0.71674	0.998	P	0.60236	0.871	T	0.82655	-0.0350	10	0.56958	D	0.05	-13.1952	17.7317	0.88379	0.0:1.0:0.0:0.0	.	9	Q8N8V4	ANS4B_HUMAN	V	9	ENSP00000308772:A9V	ENSP00000308772:A9V	A	+	2	0	ANKS4B	21152585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.414000	0.81942	0.591000	0.81541	GCT		0.488	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		49	81	0	0	0	1	0	49	81					T	21245084	C	T	21245084	3	4	504	1	0	0	0	0	1	0	0	0	691	797	28	2	28	2	ANKS4B	16	21245084	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		21245084	69109669	30	40242											
EIF4A1	1973	broad.mit.edu	37	chr17	7481180	7481180	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggaacgagacgtgatTatgagggagtttcgttctgg	14	5	1	3			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:7481180T>G	ENST00000293831.8	+	9	958	c.942T>G	c.(940-942)atT>atG	p.I314M	CD68_ENST00000380498.6_5'Flank|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000581808.1_3'UTR	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	314	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)|organ regeneration (GO:0031100)|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)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|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)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGACGTGATTATGAGGGAGT	0.498																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(940-942)atT>atG		eukaryotic translation initiation factor 4A1							90	78	82					17																	7481180		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481180T>G	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"DEAD-boxes"	3282	protein-coding gene	gene with protein product		602641	"eukaryotic translation initiation factor 4A, isoform 1"	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.942T>G	17.37:g.7481180T>G	ENSP00000293831:p.Ile314Met					EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000581808.1_3'UTR	p.I314M	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			9	958	+			314			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.942T>G	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292880	0.40594	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.79653	-1.29	5.35	5.35	0.76521	Helicase, C-terminal (3);	0.046522	0.85682	D	0.000000	T	0.81240	0.4781	L	0.37800	1.135	0.80722	D	1	P;P;P	0.51933	0.949;0.847;0.818	P;P;P	0.58520	0.84;0.68;0.573	T	0.81961	-0.0693	10	0.87932	D	0	-12.6614	8.4474	0.32849	0.0:0.8245:0.0:0.1755	.	314;314;314	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	M	314;177	ENSP00000293831:I314M	ENSP00000293831:I314M	I	+	3	3	EIF4A1	7421904	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.072000	0.50049	1.282000	0.44496	-0.215000	0.12644	ATT		0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		19	46	0	0	0	1	0	19	46					G	7481180	T	G	7481180	3	3	504	1	0	0	0	0	1	0	0	0	5024	1742	61	5	976	5	EIF4A1	17	7481180	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		7481180	73714030	31	40243											
TLK2	11011	broad.mit.edu	37	chr17	60650604	60650604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggataaattcacagaggGaagagatagaaagacaacgg	12	4	1	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:60650604G>A	ENST00000326270.9	+	12	1265	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	TLK2_ENST00000582809.1_Missense_Mutation_p.E184K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000542523.1_Missense_Mutation_p.E301K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	333					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						TTCACAGAGGGAAGAGATAGA	0.428																																						ENST00000582809.1																			0				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						c.(550-552)Gaa>Aaa		tousled-like kinase 2							45	41	42					17																	60650604		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60650604G>A	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.997G>A	17.37:g.60650604G>A	ENSP00000316512:p.Glu333Lys					TLK2_ENST00000542523.1_Missense_Mutation_p.E301K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000326270.9_Missense_Mutation_p.E333K	p.E184K			Q86UE8	TLK2_HUMAN			13	1253	+			333					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.550G>A		.	.	.	.	.	.	.	.	.	.	G	18.90	3.721308	0.68959	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.68025	-0.24;-0.27;-0.3;-0.27	6.08	6.08	0.98989	.	0.046577	0.85682	D	0.000000	T	0.80330	0.4603	L	0.58428	1.81	0.80722	D	1	D;B;B;P	0.71674	0.998;0.357;0.357;0.855	D;B;B;B	0.81914	0.995;0.32;0.219;0.348	T	0.77600	-0.2527	10	0.45353	T	0.12	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	333;301;333;333	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	K	333;301;333;301	ENSP00000275780:E333K;ENSP00000340800:E301K;ENSP00000316512:E333K;ENSP00000442311:E301K	ENSP00000316512:E333K	E	+	1	0	TLK2	58004336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.894000	0.99253	0.655000	0.94253	GAA		0.428	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		9	11	0	0	0	1	0	9	11					A	60650604	G	A	60650604	3	1	504	1	0	0	0	0	1	0	0	0	15941	1175	41	2	1039	2	TLK2	17	60650604	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	53169424	60650604	20544606	32	40244											
STK11	6794	broad.mit.edu	37	chr19	1219351	1219351	+	Frame_Shift_Del	DEL	G	G	-													tgatggagtactgcgtgtgtGgcatgcaggaaatgctggac					rs137853081		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:1219351delG	ENST00000326873.7	+	3	1576	c.403delG	c.(403-405)ggcfs	p.G135fs	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in melanoma; sporadic malignant; somatic mutation). {ECO:0000269|PubMed:10201537}.		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.G135R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGTGTGGCATGCAGGA	0.682		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"D, Mis, N, F, S"	serine/threonine kinase 11 gene (LKB1)			"E, M, O"		"jejunal harmartoma, ovarian, testicular, pancreatic"	"NSCLC, pancreatic"		23	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)	p.0?(20)|p.?(2)|p.G135R(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(403-405)gcfs		serine/threonine kinase 11							47	50	49					19																	1219351		2187	4289	6476	SO:0001589	frameshift_variant	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1219351delG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.403delG	19.37:g.1219351delG	ENSP00000324856:p.Gly135fs	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_3'UTR	p.G135fs	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		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;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1576	+		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)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	135		G -> R (in melanoma; sporadic malignant; somatic mutation).	Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.403delG	CCDS45896.1																																																																																				0.682	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		2	4						2	4	---	---	---	---	-	1219351	G	-	1219351	7	5	504	1	0	1	0	1	0	0	0	0	15286	1348	47	0	413	0	STK11	19	1219351	Frame_Shift_Del	DEL	G	TCGA-VV-A829-01A-21D-A36O-08		1219351	57909632	33	40245											
ANKLE1	126549	broad.mit.edu	37	chr19	17396326	17396326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgccatcttctacgtggGcaaagggacgagggcccggc	15	13	2	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17396326G>A	ENST00000394458.3	+	7	1739	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TTCTACGTGGGCAAAGGGACG	0.607																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1462-1464)gGc>gAc		ankyrin repeat and LEM domain containing 1							102	111	108					19																	17396326		2203	4300	6503	SO:0001583	missense	126549					nuclear envelope		g.chr19:17396326G>A	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1463G>A	19.37:g.17396326G>A	ENSP00000377971:p.Gly488Asp					ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D	p.G488D	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			7	1739	+			488					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1463G>A	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204287	0.79127	.	.	ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458;ENST00000438921	D	0.88431	-2.38	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	M	0.93283	3.4	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	D	0.96651	0.9481	10	0.87932	D	0	-12.0251	14.6247	0.68614	0.0:0.0:1.0:0.0	.	462;448;488;451	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	D	488;484;451;462	ENSP00000384008:G484D	ENSP00000377971:G451D	G	+	2	0	ANKLE1	17257326	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	8.502000	0.90505	2.300000	0.77407	0.561000	0.74099	GGC		0.607	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		4	100	0	0	0	1	0	4	100					A	17396326	G	A	17396326	3	1	504	1	0	0	0	0	1	0	0	0	632	1203	42	2	1489	2	ANKLE1	19	17396326	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	16176975	17396326	41732657	34	40246											
ANKLE1	126549	broad.mit.edu	37	chr19	17397249	17397249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggtggcaggctggcCacctgctcgtcgccggcgct	17	13	0	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17397249C>T	ENST00000394458.3	+	9	2012	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L	ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	579										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCAGGCTGGCCACCTGCTCGT	0.637																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1735-1737)cCa>cTa		ankyrin repeat and LEM domain containing 1							36	33	34					19																	17397249		2202	4298	6500	SO:0001583	missense	126549					nuclear envelope		g.chr19:17397249C>T	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1736C>T	19.37:g.17397249C>T	ENSP00000377971:p.Pro579Leu					ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L	p.P579L	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			9	2012	+			579					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1736C>T	CCDS12354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.89|16.89	3.247692|3.247692	0.59103|0.59103	.|.	.|.	ENSG00000160117|ENSG00000160117	ENST00000438921|ENST00000404261;ENST00000404085;ENST00000394458	.|T	.|0.72051	.|-0.62	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.313257	.|0.31051	.|N	.|0.008347	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	P|B;P;P	0.50528|0.37441	0.936|0.447;0.595;0.595	B|B;B;B	0.38156|0.36030	0.266|0.216;0.123;0.123	T|T	0.67401|0.67401	-0.5680|-0.5680	8|10	0.72032|0.56958	D|D	0.01|0.05	.|.	12.4238|12.4238	0.55534|0.55534	0.0:0.8306:0.1694:0.0|0.0:0.8306:0.1694:0.0	.|.	507|539;579;542	E7ETZ9|Q8NAG6-1;Q8NAG6;A0JLW0	.|.;ANKL1_HUMAN;.	Y|L	507|579;575;542	.|ENSP00000384008:P575L	ENSP00000415429:H507Y|ENSP00000377971:P542L	H|P	+|+	1|2	0|0	ANKLE1|ANKLE1	17258249|17258249	0.915000|0.915000	0.31059|0.31059	0.921000|0.921000	0.36526|0.36526	0.970000|0.970000	0.65996|0.65996	3.298000|3.298000	0.51818|0.51818	2.540000|2.540000	0.85666|0.85666	0.491000|0.491000	0.48974|0.48974	CAC|CCA		0.637	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		16	21	0	0	0	1	0	16	21					T	17397249	C	T	17397249	3	4	504	1	0	0	0	0	1	0	0	0	632	594	21	2	1770	2	ANKLE1	19	17397249	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	923	17397249	41731734	35	40247											
GLT25D1	79709	broad.mit.edu	37	chr19	17688023	17688023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagcacccgcccgcagaGccctcccgcttcatctcggc	10	19	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17688023G>A	ENST00000252599.4	+	7	1089	c.969G>A	c.(967-969)gaG>gaA	p.E323E		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	323					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CGCCCGCAGAGCCCTCCCGCT	0.667																																						ENST00000252599.4																			0											c.(967-969)gaG>gaA		collagen beta(1-O)galactosyltransferase 1							41	41	41					19																	17688023		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17688023G>A	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.969G>A	19.37:g.17688023G>A							p.E323E	NM_024656.2	NP_078932.2					7	1089	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.969G>A	CCDS12363.1																																																																																				0.667	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		7	18	0	0	0	1	0	7	18					A	17688023	G	A	17688023	2	1	504	1	0	0	0	0	0	0	0	1	6466	962	34	2		2	GLT25D1	19	17688023	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	290774	17688023	41440960	36	40248											
SPTBN4	57731	broad.mit.edu	37	chr19	41012265	41012265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtggaggctctcaatgcCgctgccctgcgcttctccca	12	16	2	0	rs367848757		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:41012265C>T	ENST00000352632.3	+	13	1874	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A|SPTBN4_ENST00000598249.1_Silent_p.A596A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	596					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)			CTCTCAATGCCGCTGCCCTGC	0.632																																						ENST00000352632.3																			0				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						c.(1786-1788)gcC>gcT		spectrin, beta, non-erythrocytic 4							54	52	53					19																	41012265		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41012265C>T	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.1788C>T	19.37:g.41012265C>T						SPTBN4_ENST00000598249.1_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A	p.A596A			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		13	1874	+			596					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1788C>T	CCDS12559.1																																																																																				0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			15	8	0	0	0	1	0	15	8					T	41012265	C	T	41012265	2	4	504	1	0	0	0	0	0	0	0	1	15120	639	23	1		1	SPTBN4	19	41012265	Silent	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	23324242	41012265	18116718	37	40249											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	12	13	0	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	41	0	0	0	1	0	3	41					A	46279833	G	A	46279833	2	1	504	1	0	0	0	0	0	0	0	1	10230	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		46279833	16745687	38	40250											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047639	46047639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagcagtcctactgtgTgcctgtctgctgtaagcctg	11	13	1	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46047639T>C	ENST00000397911.3	+	1	600	c.551T>C	c.(550-552)gTg>gCg	p.V184A	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	184	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCCTACTGTGTGCCTGTCTGC	0.597																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(550-552)gTg>gCg		keratin associated protein 10-9							258	274	269					21																	46047639		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047639T>C	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.551T>C	21.37:g.46047639T>C	ENSP00000381009:p.Val184Ala					KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.V184A	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	600	+			184			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.551T>C	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.599901	0.00849	.	.	ENSG00000221837	ENST00000397911	T	0.01369	4.97	3.45	0.958	0.19619	.	.	.	.	.	T	0.04679	0.0127	H	0.96269	3.795	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	T	0.14868	-1.0457	8	.	.	.	.	6.674	0.23083	0.0:0.2413:0.0:0.7587	.	184	P60411	KR109_HUMAN	A	184	ENSP00000381009:V184A	.	V	+	2	0	KRTAP10-9	44872067	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.478000	0.06575	0.341000	0.23771	0.491000	0.48974	GTG		0.597	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			143	215	0	0	0	1	0	143	215					C	46047639	T	C	46047639	3	2	504	1	0	0	0	0	1	0	0	0	8516	1696	59	3	553	3	KRTAP10-9	21	46047639	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		46047639	2082256	39	40251											
C21orf70	85395	broad.mit.edu	37	chr21	46363734	46363734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctcgagtgcacggagcGtcccttccatcaggagaggt	14	12	1	1	rs140146705	byFrequency	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46363734G>A	ENST00000291634.6	+	2	313	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	89																	TGCACGGAGCGTCCCTTCCAT	0.612													-|||	2	0.000399361	0.0015	0.0	5008	,	,		18294	0.0		0.0	False		,,,				2504	0.0					ENST00000291634.6																			0											c.(265-267)Gtc>Atc		family with sequence similarity 207, member A		-	ILE/VAL	5,4401	11.4+/-27.6	0,5,2198	80	61	67		265	-0.9	0	21	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM207A	NM_058190.2	29	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign	89/231	46363734	6,13000	2203	4300	6503	SO:0001583	missense	85395							g.chr21:46363734G>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 70"	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.265G>A	21.37:g.46363734G>A	ENSP00000291634:p.Val89Ile					FAM207A_ENST00000397826.3_Intron	p.V89I	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			2	313	+			89						Missense_Mutation	SNP	ENST00000291634.6	37	c.265G>A	CCDS13718.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	0.126	-1.119351	0.01785	0.001135	1.16E-4	ENSG00000160256	ENST00000291634	T	0.43688	0.94	0.448	-0.897	0.10553	.	.	.	.	.	T	0.09158	0.0226	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	8	0.11485	T	0.65	.	.	.	.	.	89	Q9NSI2	F207A_HUMAN	I	89	ENSP00000291634:V89I	ENSP00000291634:V89I	V	+	1	0	C21orf70	45188162	0.949000	0.32298	0.008000	0.14137	0.027000	0.11550	0.832000	0.27490	-0.455000	0.07054	0.074000	0.15403	GTC		0.612	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		3	61	0	0	0	1	0	3	61					A	46363734	G	A	46363734	3	1	504	1	0	0	0	0	1	0	0	0	2133	1145	40	1	271	1	C21orf70	21	46363734	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	316095	46363734	1766161	40	40252											
BCOR	54880	broad.mit.edu	37	chrX	39911568	39911568	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctctgcaatggtgacaatttCcacgtttggaaaattgcagc	9	9	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chrX:39911568C>A	ENST00000378444.4	-	15	5290	c.5062G>T	c.(5062-5064)Gaa>Taa	p.E1688*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1688	Necessary and sufficient for interaction with PCGF1.				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						GTGACAATTTCCACGTTTGGA	0.438			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				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						c.(4960-4962)Gaa>Taa		BCL6 corepressor							50	48	48					X																	39911568		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911568C>A	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.5062G>T	X.37:g.39911568C>A	ENSP00000367705:p.Glu1688*					BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1688*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*	p.E1654*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			15	5322	-			1688					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.4960G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	46	12.434530	0.99667	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5745	18.3947	0.90494	0.0:1.0:0.0:0.0	.	.	.	.	X	558;531;1636;1654;1688;1654	.	ENSP00000345923:E1654X	E	-	1	0	BCOR	39796512	1.000000	0.71417	0.733000	0.30861	0.989000	0.77384	7.336000	0.79245	2.283000	0.76528	0.594000	0.82650	GAA		0.438	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		23	4	1	0	1.1804e-14	1	1.1804e-14	23	4					A	39911568	C	A	39911568	4	1	504	1	0	0	0	0	0	1	0	0	1386	864	30	4	209	4	BCOR	23	39911568	Nonsense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		39911568	115358992	41	40253											
WDR77	79084	broad.mit.edu	37	chr1	111985359	111985359	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactcttggtgtccacaAgggagactgtcccattctca	9	11	2	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:111985359A>G	ENST00000235090.5	-	8	922	c.716T>C	c.(715-717)cTt>cCt	p.L239P	WDR77_ENST00000497278.1_5'UTR|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Missense_Mutation_p.L175P	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	239					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		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)		GGTGTCCACAAGGGAGACTGT	0.483																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(715-717)cTt>cCt		WD repeat domain 77							113	83	93					1																	111985359		2203	4300	6503	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111985359A>G	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.716T>C	1.37:g.111985359A>G	ENSP00000235090:p.Leu239Pro					WDR77_ENST00000411751.2_Missense_Mutation_p.L175P|WDR77_ENST00000497278.1_5'UTR	p.L239P	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		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)	8	922	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	239					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.716T>C	CCDS835.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724580	0.68959	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.36520	1.25;1.25	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.186543	0.47455	D	0.000228	T	0.52435	0.1734	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.961;0.99	T	0.58244	-0.7670	10	0.87932	D	0	-5.9288	15.8436	0.78871	1.0:0.0:0.0:0.0	.	175;239	B4DP38;Q9BQA1	.;MEP50_HUMAN	P	239;175	ENSP00000235090:L239P;ENSP00000400321:L175P	ENSP00000235090:L239P	L	-	2	0	WDR77	111786882	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.283000	0.78640	2.225000	0.72522	0.460000	0.39030	CTT		0.483	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		10	15	0	0	0	1	0	10	15					G	111985359	A	G	111985359	3	3	505	1	0	0	0	0	1	0	0	0	17324	72	3	3	324	3	WDR77	1	111985359	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08		111985359	137265262	1	40254											
HRNR	388697	broad.mit.edu	37	chr1	152190973	152190973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaagccagaagagtgaccGgagccagactcatatgggcc	12	12	1	4			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:152190973G>A	ENST00000368801.2	-	3	3207	c.3132C>T	c.(3130-3132)tcC>tcT	p.S1044S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1044					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)	p.S1044S(1)		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)			AAGAGTGACCGGAGCCAGACT	0.582																																						ENST00000368801.2																			1	Substitution - coding silent(1)	p.S1044S(1)	lung(1)	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						c.(3130-3132)tcC>tcT		hornerin							129	146	140					1																	152190973		2203	4298	6501	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190973G>A	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.3132C>T	1.37:g.152190973G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1044S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3207	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1044					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.3132C>T	CCDS30859.1																																																																																				0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	184	0	0	0	1	0	4	184					A	152190973	G	A	152190973	2	1	505	1	0	0	0	0	0	0	0	1	7359	1103	39	1		1	HRNR	1	152190973	Silent	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08	40205614	152190973	97059648	2	40255											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	26	0	0	0	1	0	30	26					T	209113112	C	T	209113112	3	4	505	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		209113112	34086261	3	40256											
PLA1A	51365	broad.mit.edu	37	chr3	119336927	119336927	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctacatcagcgccctggaGaattcctgtccactgatggc	9	14	2	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr3:119336927G>T	ENST00000273371.4	+	7	888	c.816G>T	c.(814-816)gaG>gaT	p.E272D	PLA1A_ENST00000495992.1_Missense_Mutation_p.E256D|PLA1A_ENST00000494440.1_Missense_Mutation_p.E256D|PLA1A_ENST00000488919.1_Missense_Mutation_p.E99D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	272					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCCCTGGAGAATTCCTGTC	0.488																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(814-816)gaG>gaT		phospholipase A1 member A							282	274	277					3																	119336927		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336927G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.816G>T	3.37:g.119336927G>T	ENSP00000273371:p.Glu272Asp					PLA1A_ENST00000495992.1_Missense_Mutation_p.E256D|PLA1A_ENST00000494440.1_Missense_Mutation_p.E256D|PLA1A_ENST00000488919.1_Missense_Mutation_p.E99D	p.E272D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			7	888	+			272					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.816G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669276	0.67814	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.26	4.37	0.52481	Lipase, N-terminal (1);	0.146153	0.64402	D	0.000011	D	0.83922	0.5359	L	0.31294	0.92	0.31177	N	0.70253	P;P	0.44090	0.792;0.826	B;P	0.45195	0.342;0.473	T	0.79531	-0.1765	10	0.13470	T	0.59	-23.9574	8.2021	0.31430	0.086:0.1602:0.7538:0.0	.	256;272	Q53H76-3;Q53H76	.;PLA1A_HUMAN	D	272;99;256;256;138	ENSP00000273371:E272D;ENSP00000420625:E99D;ENSP00000417326:E256D;ENSP00000418793:E256D;ENSP00000417295:E138D	ENSP00000273371:E272D	E	+	3	2	PLA1A	120819617	0.999000	0.42202	1.000000	0.80357	0.918000	0.54935	2.114000	0.41911	2.465000	0.83290	0.555000	0.69702	GAG		0.488	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			7	217	1	0	8.12818e-05	1	8.46686e-05	7	217					T	119336927	G	T	119336927	3	4	505	1	0	0	0	0	1	0	0	0	11988	933	33	4	842	4	PLA1A	3	119336927	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		119336927	78685503	4	40257											
PLK2	10769	broad.mit.edu	37	chr5	57753314	57753314	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattctgctgcatttacttaCattacacagcccagggccca	6	13	1	0			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:57753314C>G	ENST00000274289.3	-	6	1110		c.e6+1		PLK2_ENST00000502671.1_Splice_Site	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2						G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CATTTACTTACATTACACAGC	0.383																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.e6+1		polo-like kinase 2							84	82	82					5																	57753314		2203	4300	6503	SO:0001630	splice_region_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57753314C>G		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.809+1G>C	5.37:g.57753314C>G						PLK2_ENST00000502671.1_Splice_Site		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	6	1110	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)						O60679|Q96CV7|Q9UE61	Splice_Site	SNP	ENST00000274289.3	37		CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468851	0.63625	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLK2	57789071	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.756000	0.68757	2.603000	0.88011	0.655000	0.94253	.		0.383	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	Intron	3	74	0	0	0	1	0	3	74					G	57753314	C	G	57753314	5	3	505	1	0	0	0	0	0	0	1	0	12096	492	17	4	1283	4	PLK2	5	57753314	Splice_Site	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		57753314	123161946	5	40258											
FAM71B	153745	broad.mit.edu	37	chr5	156592666	156592666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcctcaggagatagaCaagtttttcccaatagcaaa	10	8	1	2	rs371678306	byFrequency	TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:156592666C>T	ENST00000302938.4	-	1	609	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	172						nucleus (GO:0005634)		p.V172I(1)		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)			AGGAGATAGACAAGTTTTTCC	0.507																																						ENST00000302938.4																			1	Substitution - Missense(1)	p.V172I(1)	NS(1)	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						c.(514-516)Gtc>Atc		family with sequence similarity 71, member B		T	ILE/VAL	0,4406		0,0,2203	150	153	152		514	-0.5	0.6	5		152	1,8599	819.2+/-406.8	0,1,4299	no	missense	FAM71B	NM_130899.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	172/606	156592666	1,13005	2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592666C>T		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.514G>A	5.37:g.156592666C>T	ENSP00000305596:p.Val172Ile						p.V172I	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	609	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	172					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.514G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	1.075	-0.668824	0.03403	0.0	1.16E-4	ENSG00000170613	ENST00000302938	T	0.20463	2.07	4.56	-0.477	0.12097	.	0.520233	0.18707	N	0.133418	T	0.06462	0.0166	N	0.03194	-0.395	0.20307	N	0.999917	B	0.12630	0.006	B	0.14023	0.01	T	0.40831	-0.9542	10	0.02654	T	1	-17.1208	8.6959	0.34296	0.0:0.4624:0.0:0.5376	.	172	Q8TC56	FA71B_HUMAN	I	172	ENSP00000305596:V172I	ENSP00000305596:V172I	V	-	1	0	FAM71B	156525244	0.192000	0.23301	0.556000	0.28293	0.908000	0.53690	-0.142000	0.10311	-0.241000	0.09681	-1.607000	0.00807	GTC		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		14	156	0	0	0	1	0	14	156					T	156592666	C	T	156592666	3	4	505	1	0	0	0	0	1	0	0	0	5608	478	17	2	1311	2	FAM71B	5	156592666	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	98839352	156592666	24322594	6	40259											
ZNF165	7718	broad.mit.edu	37	chr6	28056763	28056763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaccaatatggaaaaTctttcaagagcccaaaactt	4	9	3	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:28056763T>C	ENST00000377325.1	+	4	1529	c.973T>C	c.(973-975)Tct>Cct	p.S325P	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	325					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(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATATGGAAAATCTTTCAAGAG	0.363																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(973-975)Tct>Cct		zinc finger protein 165							45	47	46					6																	28056763		2203	4299	6502	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056763T>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.973T>C	6.37:g.28056763T>C	ENSP00000366542:p.Ser325Pro						p.S325P	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1529	+			325						Missense_Mutation	SNP	ENST00000377325.1	37	c.973T>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.385944	0.25031	.	.	ENSG00000197279	ENST00000377325	T	0.06608	3.28	3.09	0.474	0.16768	.	.	.	.	.	T	0.02494	0.0076	M	0.70787	2.145	0.19575	N	0.999969	B	0.22604	0.072	B	0.12837	0.008	T	0.39840	-0.9594	9	0.72032	D	0.01	.	4.0623	0.09844	0.182:0.1105:0.0:0.7075	.	325	P49910	ZN165_HUMAN	P	325	ENSP00000366542:S325P	ENSP00000366542:S325P	S	+	1	0	ZNF165	28164742	0.006000	0.16342	0.393000	0.26258	0.951000	0.60555	0.089000	0.15002	0.009000	0.14813	0.477000	0.44152	TCT		0.363	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		11	25	0	0	0	1	0	11	25					C	28056763	T	C	28056763	3	2	505	1	0	0	0	0	1	0	0	0	17737	1435	50	3	983	3	ZNF165	6	28056763	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08		28056763	143058304	7	40260											
SLC39A7	7922	broad.mit.edu	37	chr6	33169244	33169244	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgagagcatctggcatggAcatacccacgatcacgacca	9	14	2	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:33169244A>G	ENST00000374677.3	+	1	595	c.222A>G	c.(220-222)ggA>ggG	p.G74G	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Silent_p.G74G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	74	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGGCATGGACATACCCACG	0.547																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(220-222)ggA>ggG		solute carrier family 39 (zinc transporter), member 7							123	124	124					6																	33169244		2134	4242	6376	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169244A>G	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.222A>G	6.37:g.33169244A>G						SLC39A7_ENST00000374675.3_Silent_p.G74G	p.G74G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			1	595	+			74			His-rich.		B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.222A>G	CCDS43453.1																																																																																				0.547	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		28	35	0	0	0	1	0	28	35					G	33169244	A	G	33169244	2	3	505	1	0	0	0	0	0	0	0	1	14623	262	10	3		3	SLC39A7	6	33169244	Silent	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08	5112481	33169244	137945823	8	40261											
SEC63	11231	broad.mit.edu	37	chr6	108202455	108202455	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtaattcttgccactcCtagtaaacaaaaaaattaaa	4	7	1	0			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:108202455C>T	ENST00000369002.4	-	18	2013		c.e18-1			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTGCCACTCCTAGTAAACaa	0.313																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e18-1		SEC63 homolog (S. cerevisiae)							150	144	146					6																	108202455		2202	4300	6502	SO:0001630	splice_region_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108202455C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1834-1G>A	6.37:g.108202455C>T								NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	18	2013	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)						O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Splice_Site	SNP	ENST00000369002.4	37		CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510543	0.64522	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0553	0.97649	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC63	108309148	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.233000	0.78125	2.754000	0.94517	0.585000	0.79938	.		0.313	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	Intron	29	34	0	0	0	1	0	29	34					T	108202455	C	T	108202455	5	4	505	1	0	0	0	0	0	0	1	0	14005	695	24	2	465	2	SEC63	6	108202455	Splice_Site	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	75033211	108202455	62912612	9	40262											
DNAJA1	3301	broad.mit.edu	37	chr9	33029962	33029962	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaaaactggctctgcaaaaGaatgtgatttgtgacaaatg	10	5	1	4			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr9:33029962G>C	ENST00000330899.4	+	4	573	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	130					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CTCTGCAAAAGAATGTGATTT	0.328																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(388-390)aaG>aaC		DnaJ (Hsp40) homolog, subfamily A, member 1							94	95	95					9																	33029962		2203	4299	6502	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33029962G>C	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.390G>C	9.37:g.33029962G>C	ENSP00000369127:p.Lys130Asn					DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	p.K130N	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	4	573	+			130					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.390G>C	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057838	0.55325	.	.	ENSG00000086061	ENST00000330899	T	0.62232	0.04	5.16	3.26	0.37387	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (3);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.86343	2.81	0.80722	D	1	B;B	0.31859	0.092;0.343	B;B	0.33620	0.078;0.167	T	0.70226	-0.4930	10	0.87932	D	0	-18.2482	9.5477	0.39291	0.1753:0.0:0.8247:0.0	.	130;130	Q86TL9;P31689	.;DNJA1_HUMAN	N	130	ENSP00000369127:K130N	ENSP00000369127:K130N	K	+	3	2	DNAJA1	33019962	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.358000	0.44134	1.286000	0.44565	0.462000	0.41574	AAG		0.328	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			31	19	0	0	0	1	0	31	19					C	33029962	G	C	33029962	3	2	505	1	0	0	0	0	1	0	0	0	4611	933	33	4	400	4	DNAJA1	9	33029962	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		33029962	108183469	10	40263											
ADD3	120	broad.mit.edu	37	chr10	111892082	111892082	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatgctgagcaggaattactCtcagatgacgcttcatctgt	10	9	3	3			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:111892082C>G	ENST00000356080.4	+	14	2119	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	584						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGGAATTACTCTCAGATGACG	0.378																																						ENST00000356080.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1750-1752)ctC>ctG		adducin 3 (gamma)							95	93	94					10																	111892082		2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111892082C>G	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1752C>G	10.37:g.111892082C>G						ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron	p.L584L	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2119	+		Breast(234;0.052)|Lung NSC(174;0.223)	584					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.1752C>G	CCDS7561.1																																																																																				0.378	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		36	39	0	0	0	1	0	36	39					G	111892082	C	G	111892082	2	3	505	1	0	0	0	0	0	0	0	1	306	900	32	4		4	ADD3	10	111892082	Silent	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		111892082	23642665	11	40264											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8	10	9					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		5	3	0	0	0	1	0	5	3					C	134218293	A	C	134218293	3	2	505	1	0	0	0	0	1	0	0	0	12846	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08	22326211	134218293	1316454	12	40265											
NBEA	26960	broad.mit.edu	37	chr13	35685017	35685017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccatctacaccaccatacGcagagtaggaacagtattac	6	12	1	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr13:35685017G>T	ENST00000400445.3	+	13	2438	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	NBEA_ENST00000379939.2_Missense_Mutation_p.R635L|NBEA_ENST00000310336.4_Missense_Mutation_p.R635L|NBEA_ENST00000540320.1_Missense_Mutation_p.R635L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	635					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)		ACCACCATACGCAGAGTAGGA	0.363																																						ENST00000540320.1																			0				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						c.(1903-1905)cGc>cTc		neurobeachin							75	72	73					13																	35685017		1879	4109	5988	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35685017G>T	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.1904G>T	13.37:g.35685017G>T	ENSP00000383295:p.Arg635Leu					NBEA_ENST00000310336.4_Missense_Mutation_p.R635L|NBEA_ENST00000400445.3_Missense_Mutation_p.R635L|NBEA_ENST00000379939.2_Missense_Mutation_p.R635L	p.R635L			Q8NFP9	NBEA_HUMAN		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)	13	2438	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	635					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1904G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007241	0.93287	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.75337	-0.3353	10	0.72032	D	0.01	.	18.1255	0.89584	0.0:0.0:1.0:0.0	.	635	Q5T321	.	L	635	ENSP00000440951:R635L;ENSP00000383295:R635L;ENSP00000369271:R635L;ENSP00000308534:R635L	ENSP00000308534:R635L	R	+	2	0	NBEA	34583017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.282000	0.76494	0.655000	0.94253	CGC		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	68	1	0	0.115264	1	0.115264	3	68					T	35685017	G	T	35685017	3	4	505	1	0	0	0	0	1	0	0	0	10187	1087	38	4	1954	4	NBEA	13	35685017	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		35685017	79484861	13	40266											
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	15	10	0	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:7578443A>T	ENST00000269305.4	-	5	676	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	TP53_ENST00000420246.2_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N|TP53_ENST00000455263.2_Missense_Mutation_p.Y163N|TP53_ENST00000574684.1_5'Flank	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)	GACTGCTTGTAGATGGCCATG	0.622		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		71	Substitution - Missense(46)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Complex - deletion inframe(5)|Insertion - Frameshift(1)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)	breast(14)|lung(12)|liver(8)|skin(6)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|stomach(2)|adrenal_gland(1)|biliary_tract(1)|prostate(1)|pancreas(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						c.(487-489)Tac>Aac	Other conserved DNA damage response genes	tumor protein p53							53	54	53					17																	7578443		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578443A>T	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.487T>A	17.37:g.7578443A>T	ENSP00000269305:p.Tyr163Asn	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)				TP53_ENST00000455263.2_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000269305.4_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N	p.Y163N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.487T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958850	0.53400	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	5.59	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99843	0.9928	M	0.89478	3.035	0.58432	D	0.999997	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	0.999;1.0;0.998;1.0;1.0;1.0;0.999	D	0.97202	0.9865	10	0.87932	D	0	-16.6607	9.9777	0.41795	0.9196:0.0:0.0804:0.0	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163N;ENSP00000352610:Y163N;ENSP00000269305:Y163N;ENSP00000398846:Y163N;ENSP00000391127:Y163N;ENSP00000391478:Y163N;ENSP00000425104:Y31N;ENSP00000423862:Y70N;ENSP00000424104:Y163N	ENSP00000269305:Y163N	Y	-	1	0	TP53	7519168	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	9.287000	0.95975	1.067000	0.40740	-0.256000	0.11100	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	27	0	0	0	1	0	18	27					T	7578443	A	T	7578443	3	4	505	1	0	0	0	0	1	0	0	0	16378	420	15	5	811	5	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08		7578443	73616767	14	40267											
MYO15A	51168	broad.mit.edu	37	chr17	18023771	18023771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggccttcggcgcccacCggggcctgggcttcggccct	15	17	0	0			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:18023771C>T	ENST00000205890.5	+	2	1995	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	553					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)					CGGCGCCCACCGGGGCCTGGG	0.711																																						ENST00000205890.5																			0				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						c.(1657-1659)Cgg>Tgg		myosin XVA							7	9	8					17																	18023771		1740	3816	5556	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023771C>T	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.1657C>T	17.37:g.18023771C>T	ENSP00000205890:p.Arg553Trp						p.R553W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1995	+	all_neural(463;0.228)		553			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1657C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647213	0.47258	.	.	ENSG00000091536	ENST00000205890	D	0.91295	-2.82	4.86	1.16	0.20824	.	.	.	.	.	T	0.81375	0.4809	L	0.27053	0.805	0.09310	N	0.999996	B	0.16166	0.016	B	0.11329	0.006	T	0.70357	-0.4894	9	0.87932	D	0	.	2.2762	0.04103	0.4137:0.3388:0.1448:0.1027	.	553	Q9UKN7	MYO15_HUMAN	W	553	ENSP00000205890:R553W	ENSP00000205890:R553W	R	+	1	2	MYO15A	17964496	0.001000	0.12720	0.022000	0.16811	0.701000	0.40568	0.568000	0.23623	0.400000	0.25396	0.448000	0.29417	CGG		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	3	0	0	0	1	0	5	3					T	18023771	C	T	18023771	3	4	505	1	0	0	0	0	1	0	0	0	10063	643	23	1	1659	1	MYO15A	17	18023771	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	10445328	18023771	63171439	15	40268											
PHB	5245	broad.mit.edu	37	chr17	47486742	47486742	+	Frame_Shift_Del	DEL	T	T	-													tggacggcagcacacgctcaTcatagtcctctccgatgctg							TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:47486742delT	ENST00000300408.3	-	4	416	c.344delA	c.(343-345)gatfs	p.D115fs	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Frame_Shift_Del_p.D115fs|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	115					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CACACGCTCATCATAGTCCTC	0.567																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(343-345)gtfs		prohibitin							88	81	83					17																	47486742		2203	4300	6503	SO:0001589	frameshift_variant	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486742delT		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.344delA	17.37:g.47486742delT	ENSP00000300408:p.Asp115fs					RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Frame_Shift_Del_p.D115fs|PHB_ENST00000508009.1_5'UTR	p.D115fs	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		4	416	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		115					B4DY47|Q4VBQ0	Frame_Shift_Del	DEL	ENST00000300408.3	37	c.344delA	CCDS11548.1																																																																																				0.567	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		12	21						12	21	---	---	---	---	-	47486742	T	-	47486742	7	5	505	1	0	1	0	1	0	0	0	0	11814	1435	50	0	490	0	PHB	17	47486742	Frame_Shift_Del	DEL	T	TCGA-VV-A86M-01A-11D-A36O-08	29462971	47486742	33708468	16	40269											
SSTR3	6753	broad.mit.edu	37	chr22	37603076	37603076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggccaccaccatgcgcGtgaccctgcgttcggagcgc	12	18	0	1	rs370263249		TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:37603076G>A	ENST00000328544.3	-	2	1300	c.767C>T	c.(766-768)aCg>aTg	p.T256M	SSTR3_ENST00000402501.1_Missense_Mutation_p.T256M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	256					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CACCATGCGCGTGACCCTGCG	0.677																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(766-768)aCg>aTg		somatostatin receptor 3		G	MET/THR	0,4404		0,0,2202	54	46	48		767	5.1	1	22		48	1,8595	1.2+/-3.3	0,1,4297	no	missense	SSTR3	NM_001051.2	81	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	256/419	37603076	1,12999	2202	4298	6500	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603076G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.767C>T	22.37:g.37603076G>A	ENSP00000330138:p.Thr256Met					SSTR3_ENST00000402501.1_Missense_Mutation_p.T256M	p.T256M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1300	-			256					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.767C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585143	0.86748	0.0	1.16E-4	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.72835	-0.69;-0.69	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87565	0.2474	10	0.87932	D	0	.	18.4711	0.90774	0.0:0.0:1.0:0.0	.	256	P32745	SSR3_HUMAN	M	256	ENSP00000330138:T256M;ENSP00000384904:T256M	ENSP00000330138:T256M	T	-	2	0	SSTR3	35933022	1.000000	0.71417	0.987000	0.45799	0.921000	0.55340	9.848000	0.99507	2.353000	0.79882	0.563000	0.77884	ACG		0.677	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			4	49	0	0	0	1	0	4	49					A	37603076	G	A	37603076	3	1	505	1	0	0	0	0	1	0	0	0	15198	1145	40	1	493	1	SSTR3	22	37603076	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		37603076	13701490	17	40270											
KDELR3	11015	broad.mit.edu	37	chr22	38877361	38877361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcactctacctggctaacTggatcaggcggtaccagact	12	12	2	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:38877361T>C	ENST00000216014.4	+	4	668	c.496T>C	c.(496-498)Tgg>Cgg	p.W166R	KDELR3_ENST00000409006.3_Missense_Mutation_p.W166R|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	166					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)					CCTGGCTAACTGGATCAGGCG	0.478																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000216014.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(496-498)Tgg>Cgg		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3							151	137	142					22																	38877361		2203	4300	6503	SO:0001583	missense	0				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38877361T>C	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.496T>C	22.37:g.38877361T>C	ENSP00000216014:p.Trp166Arg					KDELR3_ENST00000409006.3_Missense_Mutation_p.W166R|KDELR3_ENST00000471268.1_3'UTR	p.W166R	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN			4	668	+	Melanoma(58;0.0286)		166					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.496T>C	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510319	0.85389	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.66995	-0.13;-0.24	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.88676	0.6501	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92959	0.6387	10	0.87932	D	0	-5.6902	14.8235	0.70091	0.0:0.0:0.0:1.0	.	166;166	O43731;O43731-2	ERD23_HUMAN;.	R	166	ENSP00000216014:W166R;ENSP00000386918:W166R	ENSP00000216014:W166R	W	+	1	0	KDELR3	37207307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.098000	0.63641	0.528000	0.53228	TGG		0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			4	63	0	0	0	1	0	4	63					C	38877361	T	C	38877361	3	2	505	1	0	0	0	0	1	0	0	0	8121	1580	55	3	510	3	KDELR3	22	38877361	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08	1274285	38877361	12427205	18	40271											
ATRX	546	broad.mit.edu	37	chrX	76940454	76940454	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgttcatccattccatcTgagtcacggctaatatcatc	5	12	4	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:76940454T>G	ENST00000373344.5	-	8	853	c.639A>C	c.(637-639)tcA>tcC	p.S213S	ATRX_ENST00000395603.3_Silent_p.S175S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	213	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						CCATTCCATCTGAGTCACGGC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(637-639)tcA>tcC		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						160	136	144					X																	76940454		2203	4293	6496	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940454T>G	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.639A>C	X.37:g.76940454T>G						ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.S175S	p.S213S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	853	-			213			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.639A>C	CCDS14434.1																																																																																				0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	46	0	0	0	1	0	44	46					G	76940454	T	G	76940454	2	3	505	1	0	0	0	0	0	0	0	1	1208	1567	55	5		5	ATRX	23	76940454	Silent	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08		76940454	78330106	19	40272											
MUM1L1	139221	broad.mit.edu	37	chrX	105450654	105450654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tccattttggccagcagtgaTaaaaagtatcagacgaaaag	9	7	1	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:105450654T>A	ENST00000357175.2	+	4	1878	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	MUM1L1_ENST00000337685.2_Missense_Mutation_p.I410K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	410	PWWP.					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						CCAGCAGTGATAAAAAGTATC	0.348																																						ENST00000337685.2																			0				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						c.(1228-1230)aTa>aAa		melanoma associated antigen (mutated) 1-like 1							38	33	34					X																	105450654		1838	4074	5912	SO:0001583	missense	139221							g.chrX:105450654T>A	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.1229T>A	X.37:g.105450654T>A	ENSP00000349699:p.Ile410Lys					MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.I410K	p.I410K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2014	+			410			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1229T>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902320	0.33628	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.76186	-1.0;-1.0;-1.0	4.31	4.31	0.51392	.	0.815163	0.10511	N	0.666109	T	0.73946	0.3652	L	0.44542	1.39	0.09310	N	0.999997	P	0.52061	0.95	P	0.50896	0.653	T	0.63989	-0.6512	10	0.87932	D	0	-41.712	8.8406	0.35140	0.0:0.0:0.0:1.0	.	410	Q5H9M0	MUML1_HUMAN	K	410	ENSP00000349699:I410K;ENSP00000338641:I410K;ENSP00000361632:I410K	ENSP00000338641:I410K	I	+	2	0	MUM1L1	105337310	0.991000	0.36638	0.009000	0.14445	0.657000	0.38888	5.205000	0.65186	1.908000	0.55244	0.430000	0.28490	ATA		0.348	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		13	13	0	0	0	1	0	13	13					A	105450654	T	A	105450654	3	1	505	1	0	0	0	0	1	0	0	0	9986	1406	49	5	1231	5	MUM1L1	23	105450654	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08	28510200	105450654	49819906	20	40273											
MTOR	2475	broad.mit.edu	37	chr1	11182158	11182158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccgagttggtcgataAagggatgacagcgtatctct	14	8	1	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:11182158A>C	ENST00000361445.4	-	48	6764	c.6688T>G	c.(6688-6690)Tta>Gta	p.L2230V	MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2230	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)	TTGGTCGATAAAGGGATGACA	0.532																																						ENST00000361445.4																			0				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						c.(6688-6690)Tta>Gta		mechanistic target of rapamycin (serine/threonine kinase)							117	118	117					1																	11182158		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11182158A>C	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.6688T>G	1.37:g.11182158A>C	ENSP00000354558:p.Leu2230Val					MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	p.L2230V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			48	6764	-			2230			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6688T>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320499	0.60634	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.84223	-1.82;-1.82	5.36	1.73	0.24493	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	H	0.96748	3.875	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	10	0.87932	D	0	-22.7057	8.7127	0.34393	0.6089:0.0:0.3911:0.0	.	2230	P42345	MTOR_HUMAN	V	2230;435	ENSP00000354558:L2230V;ENSP00000366034:L435V	ENSP00000354558:L2230V	L	-	1	2	MTOR	11104745	0.610000	0.26983	0.334000	0.25495	0.735000	0.41995	0.660000	0.25009	0.044000	0.15775	0.528000	0.53228	TTA		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		33	8	0	0	0	1	0	33	8					C	11182158	A	C	11182158	3	2	506	1	0	0	0	0	1	0	0	0	9954	11	1	5	1005	5	MTOR	1	11182158	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08		11182158	238068463	1	40274											
OR10X1	128367	broad.mit.edu	37	chr1	158549195	158549195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagataaagaagcctgcagtGcaagcagaggccacaagttg	13	8	0	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:158549195G>A	ENST00000368150.1	-	1	494	c.495C>T	c.(493-495)tgC>tgT	p.C165C		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCCTGCAGTGCAAGCAGAGG	0.468																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(493-495)tgC>tgT		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							53	54	54					1																	158549195		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549195G>A	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.495C>T	1.37:g.158549195G>A							p.C165C	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	494	-	all_hematologic(112;0.0378)		165					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.495C>T	CCDS30900.1																																																																																				0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		9	63	0	0	0	1	0	9	63					A	158549195	G	A	158549195	2	1	506	1	0	0	0	0	0	0	0	1	10922	1311	46	2		2	OR10X1	1	158549195	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	147367037	158549195	90701426	2	40275											
KCNT2	343450	broad.mit.edu	37	chr1	196309662	196309662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcagcaaaatgtttttaTtatcctccctcctaacacca	3	12	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:196309662T>C	ENST00000294725.9	-	16	2507	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S|KCNT2_ENST00000609185.1_Missense_Mutation_p.N481S|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000367433.5_Missense_Mutation_p.N531S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGTTTTTATTATCCTCCCT	0.303																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1591-1593)aAt>aGt		potassium channel, subfamily T, member 2							60	60	60					1																	196309662		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309662T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1592A>G	1.37:g.196309662T>C	ENSP00000294725:p.Asn531Ser					KCNT2_ENST00000294725.8_Missense_Mutation_p.N531S|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S|KCNT2_ENST00000498426.1_5'UTR	p.N531S			Q6UVM3	KCNT2_HUMAN			16	1693	-			531			RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1592A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304370	0.40795	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.29655	2.25;2.27;1.56;2.49	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.23492	0.0568	N	0.22421	0.69	0.44677	D	0.997661	B;B;B;B;B	0.28552	0.215;0.024;0.012;0.024;0.215	B;B;B;B;B	0.29353	0.101;0.037;0.037;0.037;0.101	T	0.06215	-1.0839	10	0.20519	T	0.43	-29.9172	16.4116	0.83717	0.0:0.0:0.0:1.0	.	531;513;531;481;531	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	531;481;352;142;531	ENSP00000356403:N531S;ENSP00000356401:N481S;ENSP00000405474:N142S;ENSP00000294725:N531S	ENSP00000294725:N531S	N	-	2	0	KCNT2	194576285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.013000	0.64023	2.276000	0.75962	0.528000	0.53228	AAT		0.303	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		23	138	0	0	0	1	0	23	138					C	196309662	T	C	196309662	3	2	506	1	0	0	0	0	1	0	0	0	8092	1493	52	3	1867	3	KCNT2	1	196309662	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	37760467	196309662	52940959	3	40276											
TLR5	7100	broad.mit.edu	37	chr1	223285750	223285750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactgagactctgctataCaagctattagctgcgaggct	9	11	1	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:223285750C>T	ENST00000540964.1	-	4	1085	c.624G>A	c.(622-624)ttG>ttA	p.L208L	TLR5_ENST00000342210.6_Silent_p.L208L			O60602	TLR5_HUMAN	toll-like receptor 5	208					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)		CTCTGCTATACAAGCTATTAG	0.443																																						ENST00000540964.1																			0				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						c.(622-624)ttG>ttA		toll-like receptor 5							62	61	61					1																	223285750		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285750C>T		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.624G>A	1.37:g.223285750C>T						TLR5_ENST00000342210.6_Silent_p.L208L	p.L208L			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1085	-			208					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.624G>A	CCDS31033.1																																																																																				0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		66	93	0	0	0	1	0	66	93					T	223285750	C	T	223285750	2	4	506	1	0	0	0	0	0	0	0	1	15951	477	17	2		2	TLR5	1	223285750	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	26976088	223285750	25964871	4	40277											
B3GALNT2	148789	broad.mit.edu	37	chr1	235617570	235617570	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggcagggtaagcggggctCgggtactccaactcctgcca	14	12	0	0	rs375288669		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:235617570C>T	ENST00000366600.3	-	10	1437	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	403					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)			AAGCGGGGCTCGGGTACTCCA	0.507																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1207-1209)ccG>ccA		beta-1,3-N-acetylgalactosaminyltransferase 2		C		0,4406		0,0,2203	72	67	69		1209	-8.4	0.1	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B3GALNT2	NM_152490.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		403/501	235617570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235617570C>T	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.1209G>A	1.37:g.235617570C>T							p.P403P	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		10	1437	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	403					Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	c.1209G>A	CCDS1606.1																																																																																				0.507	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		54	124	0	0	0	1	0	54	124					T	235617570	C	T	235617570	2	4	506	1	0	0	0	0	0	0	0	1	1246	871	31	1		1	B3GALNT2	1	235617570	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	12331820	235617570	13633051	5	40278											
FBXO11	80204	broad.mit.edu	37	chr2	48040489	48040489	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagccattgcattgtcaaatAtttcattgtcttctatacag	5	9	4	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:48040489A>T	ENST00000403359.3	-	18	2183	c.2111T>A	c.(2110-2112)aTa>aAa	p.I704K	FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	704					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGTCAAATATTTCATTGTC	0.294			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2110-2112)aTa>aAa		F-box protein 11							69	71	70					2																	48040489		2203	4298	6501	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040489A>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2111T>A	2.37:g.48040489A>T	ENSP00000384823:p.Ile704Lys					FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K	p.I704K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		18	2183	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	704					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2111T>A	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.2|27.2	4.807637|4.807637	0.90623|0.90623	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	D;D;D;D|.	0.84223|.	-1.82;-1.82;-1.82;-1.82|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85457|0.85457	0.5701|0.5701	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.89218|0.89218	0.3569|0.3569	10|5	0.87932|.	D|.	0|.	-8.3542|-8.3542	15.7693|15.7693	0.78152|0.78152	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	128;704|.	B3KUR1;Q86XK2|.	.;FBX11_HUMAN|.	K|K	620;704;620;128|495	ENSP00000385398:I620K;ENSP00000384823:I704K;ENSP00000323822:I620K;ENSP00000397359:I128K|.	ENSP00000323822:I620K|.	I|N	-|-	2|3	0|2	FBXO11|FBXO11	47893993|47893993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.287000|9.287000	0.95975|0.95975	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.294	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		73	140	0	0	0	1	0	73	140					T	48040489	A	T	48040489	3	4	506	1	0	0	0	0	1	0	0	0	5727	449	16	5	782	5	FBXO11	2	48040489	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08		48040489	195158884	6	40279											
SLC9A2	6549	broad.mit.edu	37	chr2	103317573	103317573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggaagcttttgattcGggaaaaccaaccaaagtcaa	9	9	2	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:103317573G>A	ENST00000233969.2	+	8	1773	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	544					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTTTGATTCGGGAAAACCAA	0.318																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1630-1632)cGg>cAg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							48	51	50					2																	103317573		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103317573G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1631G>A	2.37:g.103317573G>A	ENSP00000233969:p.Arg544Gln					SLC9A2_ENST00000469286.1_3'UTR	p.R544Q	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			8	1773	+			544					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1631G>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173392	0.94807	.	.	ENSG00000115616	ENST00000233969	T	0.59083	0.29	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.81614	2.55	0.51233	D	0.999916	D	0.89917	1.0	D	0.80764	0.994	T	0.80549	-0.1333	10	0.66056	D	0.02	.	19.5565	0.95351	0.0:0.0:1.0:0.0	.	544	Q9UBY0	SL9A2_HUMAN	Q	544	ENSP00000233969:R544Q	ENSP00000233969:R544Q	R	+	2	0	SLC9A2	102684005	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.918000	0.63376	2.626000	0.88956	0.467000	0.42956	CGG		0.318	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			98	127	0	0	0	1	0	98	127					A	103317573	G	A	103317573	3	1	506	1	0	0	0	0	1	0	0	0	14712	1116	39	1	1661	1	SLC9A2	2	103317573	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	55277084	103317573	139881800	7	40280											
MYO7B	4648	broad.mit.edu	37	chr2	128350379	128350379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccacagctgttcgaccGggagctgtgcctgcggcagc	14	16	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:128350379G>A	ENST00000409816.2	+	16	2035	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q|MYO7B_ENST00000389524.4_Missense_Mutation_p.R668Q			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)		CTGTTCGACCGGGAGCTGTGC	0.687																																						ENST00000389524.4																			0				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						c.(2002-2004)cGg>cAg		myosin VIIB							17	24	21					2																	128350379		2025	4169	6194	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128350379G>A		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.2003G>A	2.37:g.128350379G>A	ENSP00000386461:p.Arg668Gln					MYO7B_ENST00000409816.2_Missense_Mutation_p.R668Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q	p.R668Q			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	17	2056	+	Colorectal(110;0.1)		668			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2003G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260899	0.95368	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87029	-2.2;-2.2;-2.2	4.93	4.93	0.64822	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92407	0.7590	M	0.62154	1.92	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.91862	0.5500	10	0.42905	T	0.14	.	18.494	0.90858	0.0:0.0:1.0:0.0	.	668	Q6PIF6	MYO7B_HUMAN	Q	668	ENSP00000374175:R668Q;ENSP00000415090:R668Q;ENSP00000386461:R668Q	ENSP00000374175:R668Q	R	+	2	0	MYO7B	128066849	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.774000	0.85478	2.447000	0.82792	0.655000	0.94253	CGG		0.687	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	30	0	0	0	1	0	3	30					A	128350379	G	A	128350379	3	1	506	1	0	0	0	0	1	0	0	0	10083	1116	39	1	2065	1	MYO7B	2	128350379	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	25032806	128350379	114848994	8	40281											
NEB	4703	broad.mit.edu	37	chr2	152425801	152425801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactgaagatgtccgcgGcatgtttggcatgattgacg	12	10	1	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:152425801G>A	ENST00000172853.10	-	82	12560	c.12413C>T	c.(12412-12414)gCc>gTc	p.A4138V	NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000397345.3_Missense_Mutation_p.A5839V|NEB_ENST00000427231.2_Missense_Mutation_p.A5839V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V			P20929	NEBU_HUMAN	nebulin	4138					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)		GATGTCCGCGGCATGTTTGGC	0.433																																						ENST00000397345.3																			0				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						c.(17515-17517)gCc>gTc		nebulin							105	108	107					2																	152425801		1983	4155	6138	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152425801G>A	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.12413C>T	2.37:g.152425801G>A	ENSP00000172853:p.Ala4138Val					NEB_ENST00000172853.10_Missense_Mutation_p.A4138V|NEB_ENST00000427231.2_Missense_Mutation_p.A5839V|NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V	p.A5839V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	110	17718	-			5858					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.17516C>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.512750	0.85389	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.14893	2.78;2.69;2.68;2.47;2.78	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.81341	2.54	0.80722	D	1	P;D	0.69078	0.472;0.997	B;D	0.77004	0.405;0.989	T	0.48258	-0.9051	10	0.59425	D	0.04	.	15.0938	0.72217	0.0682:0.0:0.9318:0.0	.	4138;569	P20929;Q14215	NEBU_HUMAN;.	V	4138;5839;5839;187;569;4138	ENSP00000386259:A4138V;ENSP00000380505:A5839V;ENSP00000416578:A5839V;ENSP00000410961:A569V;ENSP00000172853:A4138V	ENSP00000172853:A4138V	A	-	2	0	NEB	152134047	1.000000	0.71417	0.960000	0.40013	0.950000	0.60333	5.329000	0.65892	1.594000	0.50039	0.655000	0.94253	GCC		0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		44	53	0	0	0	1	0	44	53					A	152425801	G	A	152425801	3	1	506	1	0	0	0	0	1	0	0	0	10302	1203	42	2	8462	2	NEB	2	152425801	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	24075422	152425801	90773572	9	40282											
GALNT3	2591	broad.mit.edu	37	chr2	166615936	166615936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccagtcaaaatttccaCggttatggttacttccataa	6	10	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:166615936C>T	ENST00000392701.3	-	5	1758	c.983G>A	c.(982-984)cGt>cAt	p.R328H	GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	328					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAAATTTCCACGGTTATGGTT	0.413																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(982-984)cGt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							86	85	85					2																	166615936		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166615936C>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.983G>A	2.37:g.166615936C>T	ENSP00000376465:p.Arg328His					GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H	p.R328H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			5	1758	-			328					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.983G>A	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436816	0.96168	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.61627	0.09;0.09;0.09	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84034	0.0361	10	0.41790	T	0.15	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	328	Q14435	GALT3_HUMAN	H	328;66;328	ENSP00000376465:R328H;ENSP00000386955:R66H;ENSP00000412643:R328H	ENSP00000376465:R328H	R	-	2	0	GALNT3	166324182	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.609000	0.88269	0.563000	0.77884	CGT		0.413	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		46	59	0	0	0	1	0	46	59					T	166615936	C	T	166615936	3	4	506	1	0	0	0	0	1	0	0	0	6214	536	19	1	946	1	GALNT3	2	166615936	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	14190135	166615936	76583437	10	40283											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			63	101	0	0	0	1	0	63	101					T	209113112	C	T	209113112	3	4	506	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	42497176	209113112	34086261	11	40284											
SCN11A	11280	broad.mit.edu	37	chr3	38888491	38888491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaccgagtaccctagcGgtgaaggcgaaaagaatatc	12	10	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:38888491G>A	ENST00000302328.3	-	26	5268	c.5070C>T	c.(5068-5070)acC>acT	p.T1690T	SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000450244.1_Silent_p.T1690T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1690					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)	GTACCCTAGCGGTGAAGGCGA	0.453																																						ENST00000450244.1																			0				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						c.(5068-5070)acC>acT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						116	116	116					3																	38888491		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888491G>A	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.5070C>T	3.37:g.38888491G>A						SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000302328.3_Silent_p.T1690T	p.T1690T			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5268	-			1690					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.5070C>T	CCDS33737.1																																																																																				0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		140	142	0	0	0	1	0	140	142					A	38888491	G	A	38888491	2	1	506	1	0	0	0	0	0	0	0	1	13913	1103	39	1		1	SCN11A	3	38888491	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		38888491	159133939	12	40285											
PARP3	10039	broad.mit.edu	37	chr3	51979052	51979052	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaagctgagcaagcaaCagattgcacggggtttcgag	15	7	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:51979052C>T	ENST00000417220.2	+	7	1161	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232*|PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	225	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGCAAGCAACAGATTGCACG	0.627																																						ENST00000417220.2																			0				ovary(1)	1						c.(673-675)Cag>Tag		poly (ADP-ribose) polymerase family, member 3							49	57	54					3																	51979052		1991	4170	6161	SO:0001587	stop_gained	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51979052C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.673C>T	3.37:g.51979052C>T	ENSP00000395951:p.Gln225*					PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*|PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232*	p.Q225*			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	7	1161	+			225			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Nonsense_Mutation	SNP	ENST00000417220.2	37	c.673C>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213437	0.79352	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-31.0513	18.5299	0.90987	0.0:1.0:0.0:0.0	.	.	.	.	X	225;225;232;225	.	ENSP00000381740:Q232X	Q	+	1	0	PARP3	51954092	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	5.697000	0.68295	2.722000	0.93159	0.655000	0.94253	CAG		0.627	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		48	76	0	0	0	1	0	48	76					T	51979052	C	T	51979052	4	4	506	1	0	0	0	0	0	1	0	0	11462	479	17	2	716	2	PARP3	3	51979052	Nonsense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	13090561	51979052	146043378	13	40286											
PDIA5	10954	broad.mit.edu	37	chr3	122849400	122849400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctccgtttatcacctgaccGatgaagactttgaccagttt	8	11	1	4	rs145568670	byFrequency	TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:122849400G>A	ENST00000316218.7	+	11	942	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	283	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)		TCACCTGACCGATGAAGACTT	0.587													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20815	0.0		0.0	False		,,,				2504	0.0					ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(847-849)Gat>Aat		protein disulfide isomerase family A, member 5		G	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	145	121	129		847	5.6	1	3	dbSNP_134	129	0,8600		0,0,4300	no	missense	PDIA5	NM_006810.3	23	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	283/520	122849400	4,13002	2203	4300	6503	SO:0001583	missense	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122849400G>A	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.847G>A	3.37:g.122849400G>A	ENSP00000323313:p.Asp283Asn						p.D283N	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	11	942	+			283			Thioredoxin 2.		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.847G>A	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039055	0.93630	9.08E-4	0.0	ENSG00000065485	ENST00000316218	T	0.42513	0.97	5.62	5.62	0.85841	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59752	-0.7395	10	0.36615	T	0.2	.	17.8398	0.88712	0.0:0.0:1.0:0.0	.	283	Q14554	PDIA5_HUMAN	N	283	ENSP00000323313:D283N	ENSP00000323313:D283N	D	+	1	0	PDIA5	124332090	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.801000	0.91905	2.637000	0.89404	0.462000	0.41574	GAT		0.587	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		60	85	0	0	0	1	0	60	85					A	122849400	G	A	122849400	3	1	506	1	0	0	0	0	1	0	0	0	11671	1058	37	1	889	1	PDIA5	3	122849400	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	70870348	122849400	75173030	14	40287											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	14	9	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					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						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				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						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132	121	125					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	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	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	244	0	0	0	1	0	4	244					T	124418865	C	T	124418865	4	4	506	1	0	0	0	0	0	1	0	0	7975	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	1569465	124418865	73603565	15	40288											
CLCN3	1182	broad.mit.edu	37	chr4	170610267	170610267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcatttgccttagtgcGttgtggtacaaccacgaaca	12	9	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:170610267G>A	ENST00000513761.1	+	5	1051	c.492G>A	c.(490-492)gcG>gcA	p.A164A	CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000347613.4_Silent_p.A164A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	164					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCCTTAGTGCGTTGTGGTACA	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(490-492)gcG>gcA		chloride channel, voltage-sensitive 3							173	166	168					4																	170610267		2203	4300	6503	SO:0001819	synonymous_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170610267G>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.492G>A	4.37:g.170610267G>A						CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000347613.4_Silent_p.A164A	p.A164A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	5	1051	+		Prostate(90;0.00601)|Renal(120;0.0183)	164					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.492G>A	CCDS34101.1																																																																																				0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			79	88	0	0	0	1	0	79	88					A	170610267	G	A	170610267	2	1	506	1	0	0	0	0	0	0	0	1	3464	1132	40	1		1	CLCN3	4	170610267	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		170610267	20544009	16	40289											
GLRA3	8001	broad.mit.edu	37	chr4	175603980	175603980	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgtttagtgcagtatcGtaaatctttttcttctttca	6	6	4	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:175603980G>A	ENST00000274093.3	-	6	1187	c.685C>T	c.(685-687)Cga>Tga	p.R229*	GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					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)	GTGCAGTATCGTAAATCTTTT	0.368																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(685-687)Cga>Tga		glycine receptor, alpha 3	Glycine(DB00145)						143	136	138					4																	175603980		2203	4300	6503	SO:0001587	stop_gained	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175603980G>A	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.685C>T	4.37:g.175603980G>A	ENSP00000274093:p.Arg229*					GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229*	p.R229*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		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)	6	1187	-		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)	229					D3DP44|O75816|Q5D0E3	Nonsense_Mutation	SNP	ENST00000274093.3	37	c.685C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	41	8.892875	0.98992	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	.	.	.	5.62	5.62	0.85841	.	0.054951	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	9.4019	0.38437	0.0821:0.1476:0.7703:0.0	.	.	.	.	X	229	.	ENSP00000274093:R229X	R	-	1	2	GLRA3	175840555	0.204000	0.23447	1.000000	0.80357	0.917000	0.54804	0.711000	0.25764	2.642000	0.89623	0.655000	0.94253	CGA		0.368	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			56	62	0	0	0	1	0	56	62					A	175603980	G	A	175603980	4	1	506	1	0	0	0	0	0	1	0	0	6456	1153	40	1	729	1	GLRA3	4	175603980	Nonsense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	4993713	175603980	15550296	17	40290											
MAST4	375449	broad.mit.edu	37	chr5	66459037	66459037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaattccccagcagggtccGggcacatccggcccagcact	10	18	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:66459037G>A	ENST00000403625.2	+	29	4325	c.4030G>A	c.(4030-4032)Ggg>Agg	p.G1344R	MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000404260.3_Missense_Mutation_p.G1347R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1347	Ser-rich.					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)		AGCAGGGTCCGGGCACATCCG	0.612																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4039-4041)Ggg>Agg		microtubule associated serine/threonine kinase family member 4							100	111	107					5																	66459037		1953	4138	6091	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459037G>A	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.4030G>A	5.37:g.66459037G>A	ENSP00000385727:p.Gly1344Arg					MAST4_ENST00000403625.2_Missense_Mutation_p.G1344R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R|MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R	p.G1347R			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4347	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1347					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.4039G>A	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.39|14.39	2.520072|2.520072	0.44866|0.44866	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49;1.49|.	5.89|5.89	5.02|5.02	0.67125|0.67125	.|.	.|.	.|.	.|.	.|.	T|T	0.75042|0.75042	0.3796|0.3796	M|M	0.78801|0.78801	2.425|2.425	0.36119|0.36119	D|D	0.845377|0.845377	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.982|.	T|T	0.81553|0.81553	-0.0880|-0.0880	9|5	0.59425|.	D|.	0.04|.	-9.8717|-9.8717	15.0637|15.0637	0.71977|0.71977	0.0678:0.0:0.9322:0.0|0.0678:0.0:0.9322:0.0	.|.	1347;1155|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	R|Q	1347;1344;1155;1165;1165;1150|400	ENSP00000385048:G1347R;ENSP00000385727:G1344R;ENSP00000384313:G1155R;ENSP00000384099:G1165R;ENSP00000261569:G1150R|.	ENSP00000261569:G1150R|.	G|R	+|+	1|2	0|0	MAST4|MAST4	66494793|66494793	1.000000|1.000000	0.71417|0.71417	0.893000|0.893000	0.35052|0.35052	0.019000|0.019000	0.09904|0.09904	6.607000|6.607000	0.74163|0.74163	1.526000|1.526000	0.49068|0.49068	-0.142000|-0.142000	0.14014|0.14014	GGG|CGG		0.612	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			28	333	0	0	0	1	0	28	333					A	66459037	G	A	66459037	3	1	506	1	0	0	0	0	1	0	0	0	9327	1116	39	1	4274	1	MAST4	5	66459037	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		66459037	114456223	18	40291											
FNIP1	96459	broad.mit.edu	37	chr5	131046325	131046325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaccctgctcagagaatgCccgcctggggctgcagaact	13	14	1	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:131046325C>T	ENST00000510461.1	-	7	747	c.652G>A	c.(652-654)Gca>Aca	p.A218T	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307954.8_Missense_Mutation_p.A173T	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	218					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCAGAGAATGCCCGCCTGGGG	0.522																																						ENST00000307954.8																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(517-519)Gca>Aca		folliculin interacting protein 1							43	39	41					5																	131046325		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131046325C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.652G>A	5.37:g.131046325C>T	ENSP00000421985:p.Ala218Thr					FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.A218T|FNIP1_ENST00000514667.1_Intron	p.A173T					KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	6	545	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.517G>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561609	0.96527	.	.	ENSG00000217128	ENST00000307954;ENST00000510461;ENST00000511848	T;T;T	0.24723	2.56;2.57;1.84	5.69	5.69	0.88448	.	.	.	.	.	T	0.41328	0.1154	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.87578	0.998;0.987;0.924	T	0.04811	-1.0925	9	0.12430	T	0.62	-8.3768	19.8073	0.96535	0.0:1.0:0.0:0.0	.	218;218;218	A8K8V8;Q8TF40-2;Q8TF40	.;.;FNIP1_HUMAN	T	173;218;218	ENSP00000310453:A173T;ENSP00000421985:A218T;ENSP00000425619:A218T	ENSP00000310453:A173T	A	-	1	0	FNIP1	131074224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.684000	0.91462	0.655000	0.94253	GCA		0.522	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		3	49	0	0	0	1	0	3	49					T	131046325	C	T	131046325	3	4	506	1	0	0	0	0	1	0	0	0	5975	739	26	2	2896	2	FNIP1	5	131046325	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	64587288	131046325	49868935	19	40292											
PCDHA3	56145	broad.mit.edu	37	chr5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatggcaccttcgtgggccGcatcgcgcaggacctggggc	16	14	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	47	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)	p.R47P(2)		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)			TTCGTGGGCCGCATCGCGCAG	0.657																																						ENST00000522353.2																			2	Substitution - Missense(2)	p.R47P(2)	lung(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(139-141)cGc>cAc									53	62	59					5																	140180922		2203	4300	6503	SO:0001583	missense	0							g.chr5:140180922G>A	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.140G>A	5.37:g.140180922G>A	ENSP00000429808:p.Arg47His					PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron	p.R47H	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.140G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.275454	0.59649	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27256	1.68;1.68	4.48	4.48	0.54585	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.39083	U	0.001467	T	0.35770	0.0943	M	0.64630	1.985	0.32959	D	0.52075	P;P	0.48350	0.885;0.909	B;P	0.46208	0.253;0.507	T	0.56123	-0.8031	10	0.72032	D	0.01	.	17.581	0.87968	0.0:0.0:1.0:0.0	.	47;47	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	47	ENSP00000429808:R47H;ENSP00000434086:R47H	ENSP00000429808:R47H	R	+	2	0	PCDHA3	140161106	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.545000	0.23268	2.228000	0.72767	0.586000	0.80456	CGC		0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	282	0	0	0	1	0	5	282					A	140180922	G	A	140180922	3	1	506	1	0	0	0	0	1	0	0	0	11525	1087	38	1	142	1	PCDHA3	5	140180922	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	9134597	140180922	40734338	20	40293											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723837	140723837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttctctctgaatccGcaaagcggcagcttggtcac	9	13	3	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> S (in dbSNP:rs11575947).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(235-237)ccG>ccA									55	65	62					5																	140723837		2171	4291	6462	SO:0001819	synonymous_variant	0							g.chr5:140723837G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.237G>A	5.37:g.140723837G>A			OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.P79P	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	237	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.237G>A	CCDS47290.1																																																																																				0.587	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		4	220	0	0	0	1	0	4	220					A	140723837	G	A	140723837	2	1	506	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDHGA3	5	140723837	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	542915	140723837	40191423	21	40294											
CSNK2B	1460	broad.mit.edu	37	chr6	31636397	31636397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggattgatccacgcccGctacatccttaccaaccgtg	7	14	0	1	rs372125807		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:31636397G>A	ENST00000375882.2	+	4	413	c.257G>A	c.(256-258)cGc>cAc	p.R86H	GPANK1_ENST00000375895.2_5'Flank|GPANK1_ENST00000375906.1_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|GPANK1_ENST00000375900.4_5'Flank|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H|GPANK1_ENST00000375893.2_5'Flank|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.R86H	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	86					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ATCCACGCCCGCTACATCCTT	0.552																																						ENST00000375880.2																			0											c.(256-258)cGc>cAc				G	HIS/ARG	0,3022		0,0,1511	160	118	133		257	4.1	1	6		133	1,5417		0,1,2708	no	missense	CSNK2B	NM_001320.5	29	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	probably-damaging	86/216	31636397	1,8439	1511	2709	4220	SO:0001583	missense	0							g.chr6:31636397G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.257G>A	6.37:g.31636397G>A	ENSP00000365042:p.Arg86His					CSNK2B_ENST00000375882.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H	p.R86H							4	375	+								B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.257G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985435	0.93044	0.0	1.85E-4	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.9	4.12	0.48240	Casein kinase II, regulatory subunit, alpha-helical (1);	0.102677	0.64402	D	0.000002	T	0.79730	0.4496	H	0.96398	3.815	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84904	0.0844	8	0.87932	D	0	-4.0524	10.1162	0.42591	0.075:0.1375:0.7875:0.0	.	86;86	Q5SRQ3;P67870	.;CSK2B_HUMAN	H	105;86;86;86;86	.	ENSP00000365025:R86H	R	+	2	0	CSNK2B	31744376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.233000	0.95337	0.827000	0.34685	0.591000	0.81541	CGC		0.552	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		65	58	0	0	0	1	0	65	58					A	31636397	G	A	31636397	3	1	506	1	0	0	0	0	1	0	0	0	3959	1087	38	1	267	1	CSNK2B	6	31636397	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		31636397	139478670	22	40295											
REV3L	5980	broad.mit.edu	37	chr6	111694039	111694039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcattgtttcttgaaacaTacagttctaaatcttcacag	4	8	5	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:111694039T>C	ENST00000358835.3	-	14	5973	c.5519A>G	c.(5518-5520)tAt>tGt	p.Y1840C	REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000435970.1_Missense_Mutation_p.Y1762C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1840					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTGAAACATACAGTTCTAA	0.433								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5284-5286)tAt>tGt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							185	177	180					6																	111694039		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694039T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5519A>G	6.37:g.111694039T>C	ENSP00000351697:p.Tyr1840Cys					REV3L_ENST00000358835.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C	p.Y1762C			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6101	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1840					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5285A>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838717	0.51057	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01767	4.75;4.75;4.75;4.65	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.341182	0.28683	N	0.014498	T	0.05227	0.0139	M	0.61703	1.905	0.39204	D	0.963204	D	0.89917	1.0	D	0.85130	0.997	T	0.40496	-0.9560	10	0.48119	T	0.1	-5.5071	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1840	O60673	DPOLZ_HUMAN	C	1840;1840;1840;1762	ENSP00000357792:Y1840C;ENSP00000357795:Y1840C;ENSP00000351697:Y1840C;ENSP00000402003:Y1762C	ENSP00000351697:Y1840C	Y	-	2	0	REV3L	111800732	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.133000	0.57983	2.263000	0.75096	0.533000	0.62120	TAT		0.433	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		4	347	0	0	0	1	0	4	347					C	111694039	T	C	111694039	3	2	506	1	0	0	0	0	1	0	0	0	13240	1406	49	3	3953	3	REV3L	6	111694039	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	80057642	111694039	59421028	23	40296											
AKAP9	10142	broad.mit.edu	37	chr7	91630393	91630396	+	Frame_Shift_Del	DEL	AGAC	AGAC	-													ctaattctaagcaaaaagaaAgacagtcttctgaagaaata					rs146864466		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:91630393_91630396delAGAC	ENST00000359028.2	+	9	1423_1426	c.1198_1201delAGAC	c.(1198-1203)agacagfs	p.RQ400fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	400	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R400K(1)|p.R388K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			gcaaaaagaaagacagtcttctga	0.328			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)	p.R400K(1)|p.R388K(1)	skin(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(1198-1203)agfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630393_91630396delAGAC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1198_1201delAGAC	7.37:g.91630393_91630396delAGAC	ENSP00000351922:p.Arg400fs					AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs	p.RQ400fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1423_1426	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		400			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.1198_1201delAGAC																																																																																					0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		15	48						15	48	---	---	---	---	-	91630396	AGAC	-	91630393	7	5	506	1	0	1	0	1	0	0	0	0	459	64	3	0	1192	0	AKAP9	7	91630393	Frame_Shift_Del	DEL	AGAC	TCGA-VW-A7QS-01A-12D-A33T-08		91630393	67508270	24	40297											
SLC26A4	5172	broad.mit.edu	37	chr7	107340552	107340552	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaacctcaaggagtgaagAttcttagattttccagtcct	8	8	2	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:107340552A>C	ENST00000265715.3	+	15	1863	c.1639A>C	c.(1639-1641)Att>Ctt	p.I547L	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	547	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				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						AGGAGTGAAGATTCTTAGATT	0.318									Pendred syndrome																													ENST00000265715.3																			0				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						c.(1639-1641)Att>Ctt		solute carrier family 26 (anion exchanger), member 4							116	120	119					7																	107340552		2202	4300	6502	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340552A>C	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.1639A>C	7.37:g.107340552A>C	ENSP00000265715:p.Ile547Leu					SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L	p.I547L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			15	1863	+			547			STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1639A>C	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976581	0.92982	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.55	5.55	0.83447	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.86651	2.83	0.47862	D	0.999535	D;D;P	0.71674	0.997;0.998;0.924	D;D;P	0.83275	0.993;0.996;0.717	D	0.96515	0.9381	10	0.87932	D	0	.	15.6985	0.77521	1.0:0.0:0.0:0.0	.	108;134;547	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	L	547;108;134;116	ENSP00000265715:I547L;ENSP00000439743:I108L;ENSP00000437427:I134L;ENSP00000441209:I116L	ENSP00000265715:I547L	I	+	1	0	SLC26A4	107127788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.862000	0.87013	2.121000	0.65114	0.460000	0.39030	ATT		0.318	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		55	121	0	0	0	1	0	55	121					C	107340552	A	C	107340552	3	2	506	1	0	0	0	0	1	0	0	0	14519	333	12	5	1693	5	SLC26A4	7	107340552	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08	15710159	107340552	51798111	25	40298											
KCNS2	3788	broad.mit.edu	37	chr8	99441273	99441273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattgaaaaggaggagaacGagggcctggccaccatccct	12	12	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr8:99441273G>A	ENST00000287042.4	+	2	1416	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	356					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)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGAGGAGAACGAGGGCCTGGC	0.577																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1066-1068)Gag>Aag		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							85	76	79					8																	99441273		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441273G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1066G>A	8.37:g.99441273G>A	ENSP00000287042:p.Glu356Lys					KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K	p.E356K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1416	+	Breast(36;2.4e-06)		356					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1066G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170259	0.38315	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.98455	-4.94;-4.94	6.07	6.07	0.98685	Ion transport (1);	0.158967	0.56097	D	0.000035	D	0.94149	0.8123	N	0.16233	0.39	0.44061	D	0.996803	B	0.27416	0.178	B	0.16722	0.016	D	0.90875	0.4749	10	0.56958	D	0.05	.	10.3149	0.43732	0.0698:0.1361:0.7941:0.0	.	356	Q9ULS6	KCNS2_HUMAN	K	356	ENSP00000287042:E356K;ENSP00000430712:E356K	ENSP00000287042:E356K	E	+	1	0	KCNS2	99510449	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	8.029000	0.88807	2.884000	0.98904	0.655000	0.94253	GAG		0.577	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		55	83	0	0	0	1	0	55	83					A	99441273	G	A	99441273	3	1	506	1	0	0	0	0	1	0	0	0	8089	1059	37	1	1068	1	KCNS2	8	99441273	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		99441273	46922749	26	40299											
HNRNPK	3190	broad.mit.edu	37	chr9	86588288	86588289	+	Frame_Shift_Del	DEL	AA	AA	-													aacagcctcaactcgcagtcAaagtcacttcctttatagtg					rs574179901	byFrequency	TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:86588288_86588289delAA	ENST00000376264.2	-	9	686_687	c.428_429delTT	c.(427-429)tttfs	p.F143fs	HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376263.3_Frame_Shift_Del_p.F143fs	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	143	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ACTCGCAGTCAAAGTCACTTCC	0.366																																						ENST00000376263.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						c.(427-429)tfs		heterogeneous nuclear ribonucleoprotein K																																				SO:0001589	frameshift_variant	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86588288_86588289delAA		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.428_429delTT	9.37:g.86588288_86588289delAA	ENSP00000365440:p.Phe143fs					RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376264.2_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs	p.F143fs	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN			9	651_652	-			143			2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Frame_Shift_Del	DEL	ENST00000376264.2	37	c.428_429delTT	CCDS6667.1																																																																																				0.366	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			26	288						26	288	---	---	---	---	-	86588289	AA	-	86588288	7	5	506	1	0	1	0	1	0	0	0	0	7269	127	5	0	1036	0	HNRNPK	9	86588288	Frame_Shift_Del	DEL	AA	TCGA-VW-A7QS-01A-12D-A33T-08		86588288	54625143	27	40300											
ZNF462	58499	broad.mit.edu	37	chr9	109691748	109691748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attccgctgcatcaaatgctTcaagctgtcctttagcactg	7	12	2	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:109691748T>G	ENST00000277225.5	+	3	5844	c.5555T>G	c.(5554-5556)tTc>tGc	p.F1852C	ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C|ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1852					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCAAATGCTTCAAGCTGTCC	0.532																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5554-5556)tTc>tGc		zinc finger protein 462							103	76	85					9																	109691748		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691748T>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5555T>G	9.37:g.109691748T>G	ENSP00000277225:p.Phe1852Cys					ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C|ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C	p.F1852C			Q96JM2	ZN462_HUMAN			3	5844	+			1852					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5555T>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156700	0.57259	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06068	3.35;3.66;3.8;3.6	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.07290	-1.0780	10	0.44086	T	0.13	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	1852;1852	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	1852;1852;735;697	ENSP00000277225:F1852C;ENSP00000414570:F1852C;ENSP00000363818:F735C;ENSP00000397306:F697C	ENSP00000277225:F1852C	F	+	2	0	ZNF462	108731569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.703000	0.61824	2.270000	0.75569	0.459000	0.35465	TTC		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		9	131	0	0	0	1	0	9	131					G	109691748	T	G	109691748	3	3	506	1	0	0	0	0	1	0	0	0	17923	1783	62	5	5561	5	ZNF462	9	109691748	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	23103460	109691748	31521683	28	40301											
NOTCH1	4851	broad.mit.edu	37	chr9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-													cacgggttcgagacgcactcGttgacgtcgatctcgcatcg					rs373152976		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	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)	p.N454delN(2)		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)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		2	Deletion - In frame(2)	p.N454delN(2)	central_nervous_system(2)	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						c.(1360-1362)del		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412283_139412285delGTT	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.1360_1362delAAC	9.37:g.139412283_139412285delGTT	ENSP00000277541:p.Asn454del	HNSCC(8;0.001)					p.N454del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1435_1437	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	454			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1360_1362delAAC	CCDS43905.1																																																																																				0.66	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		66	85						66	85	---	---	---	---	-	139412285	GTT	-	139412283	7	5	506	1	0	1	0	1	0	0	0	0	10547	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-VW-A7QS-01A-12D-A33T-08	29720535	139412283	1801148	29	40302											
NOTCH1	4851	broad.mit.edu	37	chr9	139412664	139412664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgcagatggccttgcCattgacagggttggtgtcgc	16	9	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412664C>A	ENST00000277541.6	-	7	1255	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	394	EGF-like 10. {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)		ATGGCCTTGCCATTGACAGGG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				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						c.(1180-1182)Ggc>Tgc		notch 1							66	74	72					9																	139412664		2153	4263	6416	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412664C>A	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.1180G>T	9.37:g.139412664C>A	ENSP00000277541:p.Gly394Cys	HNSCC(8;0.001)					p.G394C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1255	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	394			EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1180G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802980	0.90623	.	.	ENSG00000148400	ENST00000277541	D	0.86562	-2.14	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	H	0.98005	4.125	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97779	1.0231	10	0.66056	D	0.02	.	16.8825	0.86067	0.0:1.0:0.0:0.0	.	394	P46531	NOTC1_HUMAN	C	394	ENSP00000277541:G394C	ENSP00000277541:G394C	G	-	1	0	NOTCH1	138532485	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.304000	0.78882	2.223000	0.72356	0.514000	0.50259	GGC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	14	1	0	0.00448238	1	0.00461422	9	14					A	139412664	C	A	139412664	3	1	506	1	0	0	0	0	1	0	0	0	10547	594	21	4	6599	4	NOTCH1	9	139412664	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	381	139412664	1800767	30	40303											
ITIH5	80760	broad.mit.edu	37	chr10	7627946	7627946	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatatcaagtggtccttccaTactttgatccggttggaaaa	9	8	1	1	rs541001933		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:7627946T>C	ENST00000256861.6	-	8	1104	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V	ITIH5_ENST00000397145.2_Silent_p.V342V|ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000298441.6_Silent_p.V128V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	342	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						GGTCCTTCCATACTTTGATCC	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		17578	0.0		0.001	False		,,,				2504	0.0					ENST00000256861.6																			0				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						c.(1024-1026)gtA>gtG		inter-alpha-trypsin inhibitor heavy chain family, member 5							191	155	167					10																	7627946		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7627946T>C			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.1026A>G	10.37:g.7627946T>C						ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000298441.6_Silent_p.V128V|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.V342V	p.V342V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			8	1104	-			342			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1026A>G																																																																																					0.473	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		40	59	0	0	0	1	0	40	59					C	7627946	T	C	7627946	2	2	506	1	0	0	0	0	0	0	0	1	7907	1393	49	3		3	ITIH5	10	7627946	Silent	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08		7627946	127906801	31	40304											
HELLS	3070	broad.mit.edu	37	chr10	96334429	96334429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagtaccaggaccttttcTtgtctgtggccctttgtcta	10	10	3	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:96334429T>C	ENST00000348459.5	+	9	929	c.824T>C	c.(823-825)cTt>cCt	p.L275P	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.L275P	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)		GGACCTTTTCTTGTCTGTGGC	0.373																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(823-825)cTt>cCt		helicase, lymphoid-specific							216	199	205					10																	96334429		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96334429T>C	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.824T>C	10.37:g.96334429T>C	ENSP00000239027:p.Leu275Pro					HELLS_ENST00000394045.1_Missense_Mutation_p.L275P|HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	p.L275P	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	9	929	+		Colorectal(252;0.0429)	275			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000348459.5	37	c.824T>C	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194740	0.78902	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	5.84	5.84	0.93424	DEAD-like helicase (2);SNF2-related (1);	0.064582	0.64402	D	0.000012	D	0.99321	0.9762	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;1.0	D;D;D;D;D	0.83275	0.994;0.996;0.91;0.993;0.989	D	0.98483	1.0606	10	0.87932	D	0	-25.5498	15.3802	0.74648	0.0:0.0:0.0:1.0	.	259;275;275;275;275	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	P	275	ENSP00000239027:L275P;ENSP00000377609:L275P;ENSP00000377608:L275P;ENSP00000360383:L275P	ENSP00000239027:L275P	L	+	2	0	HELLS	96324419	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.828000	0.86729	2.220000	0.72140	0.477000	0.44152	CTT		0.373	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		65	240	0	0	0	1	0	65	240					C	96334429	T	C	96334429	3	2	506	1	0	0	0	0	1	0	0	0	7046	1609	56	3	858	3	HELLS	10	96334429	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	88706483	96334429	39200318	32	40305											
OR51G2	81282	broad.mit.edu	37	chr11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggaaggtagcagaaaCgctgctgctgctgtttccca	12	11	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13						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(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(37-39)Gtt>Att		olfactory receptor, family 51, subfamily G, member 2							49	48	49					11																	4936857		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936857C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.37G>A	11.37:g.4936857C>T	ENSP00000322593:p.Val13Ile					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.V13I	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	65	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	13					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.37G>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	3.071	-0.191036	0.06299	.	.	ENSG00000176893	ENST00000322013	T	0.19669	2.13	0.427	-0.793	0.10922	.	1.731510	0.03496	N	0.217327	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	P	0.39404	0.672	B	0.29524	0.103	T	0.12477	-1.0546	9	0.19590	T	0.45	.	.	.	.	.	13	Q8NGK0	O51G2_HUMAN	I	13	ENSP00000322593:V13I	ENSP00000322593:V13I	V	-	1	0	OR51G2	4893433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.946000	0.00680	-0.477000	0.06832	-0.470000	0.05040	GTT		0.557	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		49	60	0	0	0	1	0	49	60					T	4936857	C	T	4936857	3	4	506	1	0	0	0	0	1	0	0	0	11099	536	19	1	911	1	OR51G2	11	4936857	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		4936857	130069659	33	40306											
DCHS1	8642	broad.mit.edu	37	chr11	6644395	6644395	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccccatcctcatctgTggcctgcacgtgacccaagc	9	18	2	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:6644395T>C	ENST00000299441.3	-	21	8923	c.8512A>G	c.(8512-8514)Aca>Gca	p.T2838A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2838	Cadherin 27. {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)		TCCTCATCTGTGGCCTGCACG	0.572																																						ENST00000299441.3																			0				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						c.(8512-8514)Aca>Gca		dachsous cadherin-related 1							35	31	32					11																	6644395		2200	4294	6494	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644395T>C	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.8512A>G	11.37:g.6644395T>C	ENSP00000299441:p.Thr2838Ala						p.T2838A	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8923	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2838			Cadherin 27.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8512A>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057434	0.36277	.	.	ENSG00000166341	ENST00000299441	T	0.62498	0.02	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.40640	N	0.001048	T	0.63498	0.2516	M	0.70842	2.15	0.36631	D	0.87628	P	0.43788	0.817	B	0.41764	0.366	T	0.74523	-0.3637	10	0.56958	D	0.05	.	13.6294	0.62186	0.0:0.0:0.0:1.0	.	2838	Q96JQ0	PCD16_HUMAN	A	2838	ENSP00000299441:T2838A	ENSP00000299441:T2838A	T	-	1	0	DCHS1	6600971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.690000	0.47001	2.092000	0.63282	0.533000	0.62120	ACA		0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		13	18	0	0	0	1	0	13	18					C	6644395	T	C	6644395	3	2	506	1	0	0	0	0	1	0	0	0	4287	1696	59	3	1388	3	DCHS1	11	6644395	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	1707538	6644395	128362121	34	40307											
HTR3A	3359	broad.mit.edu	37	chr11	113857553	113857553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctgcacaggtgtctActttgtggtgtgcatggctc	14	10	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:113857553A>C	ENST00000504030.2	+	8	1368	c.923A>C	c.(922-924)tAc>tCc	p.Y308S	HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	308					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)	ACAGGTGTCTACTTTGTGGTG	0.602																																						ENST00000504030.2																			0				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						c.(922-924)tAc>tCc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						112	97	102					11																	113857553		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857553A>C	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.923A>C	11.37:g.113857553A>C	ENSP00000424189:p.Tyr308Ser					HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S	p.Y308S			P46098	5HT3A_HUMAN		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)	8	1368	+		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)	308					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.923A>C		.	.	.	.	.	.	.	.	.	.	A	25.0	4.592466	0.86953	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.92446	-3.04;-1.56;-3.04;-1.56;-3.04;-3.04	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.79784	0.993;0.962;0.993	D	0.97891	1.0297	10	0.87932	D	0	-21.6553	15.4816	0.75530	1.0:0.0:0.0:0.0	.	293;346;314	B4DSY6;G5E986;Q7KZM7	.;.;.	S	308;346;314;340;52;293	ENSP00000424189:Y308S;ENSP00000347754:Y346S;ENSP00000364648:Y314S;ENSP00000424776:Y340S;ENSP00000437776:Y52S;ENSP00000299961:Y293S	ENSP00000299961:Y293S	Y	+	2	0	HTR3A	113362763	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.287000	0.95975	2.110000	0.64415	0.459000	0.35465	TAC		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		22	156	0	0	0	1	0	22	156					C	113857553	A	C	113857553	3	2	506	1	0	0	0	0	1	0	0	0	7444	391	14	5	1089	5	HTR3A	11	113857553	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08	107213158	113857553	21148963	35	40308											
LHX5	64211	broad.mit.edu	37	chr12	113906197	113906197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggggacaaactgcggtccGtacaggatgacactgcgggc	15	12	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:113906197G>A	ENST00000261731.3	-	3	983	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	137					cell proliferation in forebrain (GO:0021846)|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)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						ACTGCGGTCCGTACAGGATGA	0.662																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(409-411)aCg>aTg		LIM homeobox 5							75	60	65					12																	113906197		2203	4300	6503	SO:0001583	missense	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113906197G>A	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.410C>T	12.37:g.113906197G>A	ENSP00000261731:p.Thr137Met						p.T137M	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			3	983	-			137					Q32MA4	Missense_Mutation	SNP	ENST00000261731.3	37	c.410C>T	CCDS9171.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688253	0.68271	.	.	ENSG00000089116	ENST00000261731	D	0.91407	-2.84	4.85	4.85	0.62838	.	0.000000	0.53938	D	0.000044	D	0.89199	0.6647	L	0.44542	1.39	0.58432	D	0.999991	D	0.61080	0.989	P	0.46339	0.513	D	0.89602	0.3835	10	0.45353	T	0.12	.	17.9696	0.89110	0.0:0.0:1.0:0.0	.	137	Q9H2C1	LHX5_HUMAN	M	137	ENSP00000261731:T137M	ENSP00000261731:T137M	T	-	2	0	LHX5	112390580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.661000	0.61518	2.213000	0.71641	0.491000	0.48974	ACG		0.662	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		23	33	0	0	0	1	0	23	33					A	113906197	G	A	113906197	3	1	506	1	0	0	0	0	1	0	0	0	8774	1145	40	1	810	1	LHX5	12	113906197	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		113906197	19945698	36	40309											
SACS	26278	broad.mit.edu	37	chr13	23909715	23909715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccatctgtgattttgCcctttactgaatacagcaca	6	11	2	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:23909715C>T	ENST00000382292.3	-	9	8573	c.8300G>A	c.(8299-8301)gGc>gAc	p.G2767D	SACS_ENST00000382298.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2767					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)		TGTGATTTTGCCCTTTACTGA	0.348																																						ENST00000382298.3																			0				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						c.(8299-8301)gGc>gAc		spastic ataxia of Charlevoix-Saguenay (sacsin)							90	83	86					13																	23909715		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909715C>T	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.8300G>A	13.37:g.23909715C>T	ENSP00000371729:p.Gly2767Asp					SACS_ENST00000382292.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D	p.G2767D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8888	-		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)	2767					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8300G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236636	0.79800	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87256	-2.11;-2.23;-2.11	5.2	5.2	0.72013	.	0.057290	0.64402	D	0.000001	T	0.78509	0.4294	N	0.08118	0	0.44890	D	0.997907	P	0.42827	0.791	B	0.40864	0.342	T	0.81462	-0.0922	10	0.45353	T	0.12	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	2767	Q9NZJ4	SACS_HUMAN	D	2767;2017;2767	ENSP00000371729:G2767D;ENSP00000385844:G2017D;ENSP00000371735:G2767D	ENSP00000371729:G2767D	G	-	2	0	SACS	22807715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.869000	0.69613	2.584000	0.87258	0.462000	0.41574	GGC		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	206	0	0	0	1	0	4	206					T	23909715	C	T	23909715	3	4	506	1	0	0	0	0	1	0	0	0	13804	739	26	2	5443	2	SACS	13	23909715	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		23909715	91260163	37	40310											
MYCBP2	23077	broad.mit.edu	37	chr13	77667377	77667377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagttactgatatataCggggcaggtacagatgttga	13	5	1	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:77667377C>T	ENST00000544440.2	-	59	10193	c.10176G>A	c.(10174-10176)ccG>ccA	p.P3392P	MYCBP2_ENST00000407578.2_Silent_p.P3430P|MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2-AS1_ENST00000593933.1_RNA					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)		CTGATATATACGGGGCAGGTA	0.393																																						ENST00000407578.2																			0				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						c.(10288-10290)ccG>ccA		MYC binding protein 2, E3 ubiquitin protein ligase							172	165	168					13																	77667377		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77667377C>T	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.10176G>A	13.37:g.77667377C>T						MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2_ENST00000544440.2_Silent_p.P3392P	p.P3430P	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	59	10556	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3392						Silent	SNP	ENST00000544440.2	37	c.10290G>A																																																																																					0.393	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		116	143	0	0	0	1	0	116	143					T	77667377	C	T	77667377	2	4	506	1	0	0	0	0	0	0	0	1	10018	523	19	1		1	MYCBP2	13	77667377	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	53757662	77667377	37502501	38	40311											
RNASE13	440163	broad.mit.edu	37	chr14	21502144	21502144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggggagggaatcctgggtgaGtgtgcagtattcattgtaat	16	4	1	1	rs533949543		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:21502144G>C	ENST00000382951.3	-	2	441	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	102						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TCCTGGGTGAGTGTGCAGTAT	0.498																																						ENST00000382951.3																			0				cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12						c.(304-306)Ctc>Gtc		ribonuclease, RNase A family, 13 (non-active)							248	200	217					14																	21502144		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502144G>C	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"Ribonucleases, RNase A"	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.304C>G	14.37:g.21502144G>C	ENSP00000372410:p.Leu102Val					NDRG2_ENST00000403829.3_Intron	p.L102V	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	441	-	all_cancers(95;0.000759)		102						Missense_Mutation	SNP	ENST00000382951.3	37	c.304C>G	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773249	0.31411	.	.	ENSG00000206150	ENST00000382951	T	0.73047	-0.71	5.42	-3.37	0.04898	Ribonuclease A, domain (3);	0.669732	0.12899	N	0.429962	T	0.43612	0.1255	N	0.19112	0.55	0.09310	N	1	B	0.20261	0.043	B	0.24394	0.053	T	0.25363	-1.0134	10	0.20519	T	0.43	-13.7273	0.4104	0.00440	0.2345:0.2386:0.2833:0.2436	.	102	Q5GAN3	RNS13_HUMAN	V	102	ENSP00000372410:L102V	ENSP00000372410:L102V	L	-	1	0	RNASE13	20571984	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.887000	0.04152	-0.582000	0.05929	0.650000	0.86243	CTC		0.498	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			94	129	0	0	0	1	0	94	129					C	21502144	G	C	21502144	3	2	506	1	0	0	0	0	1	0	0	0	13403	1029	36	4	170	4	RNASE13	14	21502144	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		21502144	85847396	39	40312											
MYH7	4625	broad.mit.edu	37	chr14	23889440	23889440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctcgatgcGtgcctggtcagacacaaagg	10	15	1	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:23889440G>A	ENST00000355349.3	-	27	3502	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1114					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)		tcctcGATGCGTGCCTGGTCA	0.637																																						ENST00000355349.3																			0				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						c.(3340-3342)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							17	17	17					14																	23889440		2202	4285	6487	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23889440G>A	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.3340C>T	14.37:g.23889440G>A	ENSP00000347507:p.Arg1114Cys						p.R1114C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	27	3502	-	all_cancers(95;2.54e-05)		1114					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3340C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629920	0.67015	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83914	-1.78	5.13	5.13	0.70059	Myosin tail (1);	.	.	.	.	D	0.94486	0.8225	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96038	0.9022	9	0.87932	D	0	.	18.771	0.91892	0.0:0.0:1.0:0.0	.	1114	P12883	MYH7_HUMAN	C	1114	ENSP00000347507:R1114C	ENSP00000347507:R1114C	R	-	1	0	MYH7	22959280	1.000000	0.71417	0.953000	0.39169	0.172000	0.22775	9.487000	0.97945	2.678000	0.91216	0.655000	0.94253	CGC		0.637	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	49	0	0	0	1	0	3	49					A	23889440	G	A	23889440	3	1	506	1	0	0	0	0	1	0	0	0	10039	1145	40	1	2523	1	MYH7	14	23889440	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	2387296	23889440	83460100	40	40313											
UNKL	64718	broad.mit.edu	37	chr16	1451675	1451675	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgccgcccagctggccgttCtgcaaggcttcctgggcctg	13	17	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:1451675C>T	ENST00000389221.4	-	4	491	c.492G>A	c.(490-492)caG>caA	p.Q164Q	UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000397462.1_Silent_p.Q251Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	164					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCTGGCCGTTCTGCAAGGCTT	0.647																																						ENST00000389221.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(490-492)caG>caA		unkempt family zinc finger-like							30	33	32					16																	1451675		2198	4299	6497	SO:0001819	synonymous_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1451675C>T	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.492G>A	16.37:g.1451675C>T						UNKL_ENST00000397462.1_Silent_p.Q251Q|UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR	p.Q164Q	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN			4	491	-		Hepatocellular(780;0.0893)	164					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	c.492G>A	CCDS53981.1																																																																																				0.647	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001037125		3	61	0	0	0	1	0	3	61					T	1451675	C	T	1451675	2	4	506	1	0	0	0	0	0	0	0	1	16998	912	32	2		2	UNKL	16	1451675	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		1451675	88903078	41	40314											
CX3CL1	6376	broad.mit.edu	37	chr16	57416150	57416150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagcccgaagccacaggcGaaagcagtagcctggagccg	15	12	0	0	rs558560542		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:57416150G>A	ENST00000006053.6	+	3	511	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000565912.1_Missense_Mutation_p.E96K	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	134	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCACAGGCGAAAGCAGTAG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		16015	0.001		0.0	False		,,,				2504	0.0					ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(286-288)Gaa>Aaa		chemokine (C-X3-C motif) ligand 1							28	31	30					16																	57416150		2176	4273	6449	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416150G>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.400G>A	16.37:g.57416150G>A	ENSP00000006053:p.Glu134Lys					CX3CL1_ENST00000006053.6_Missense_Mutation_p.E134K|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K	p.E96K			P78423	X3CL1_HUMAN			2	2992	+			134			Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.286G>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377866	0.42105	.	.	ENSG00000006210	ENST00000006053	T	0.04917	3.53	5.52	0.842	0.18927	.	4.963130	0.00357	N	0.000026	T	0.06188	0.0160	L	0.32530	0.975	0.09310	N	1	P	0.39404	0.672	B	0.28553	0.091	T	0.44236	-0.9341	10	0.87932	D	0	-18.0981	9.5259	0.39165	0.0:0.4781:0.3725:0.1494	.	134	P78423	X3CL1_HUMAN	K	134	ENSP00000006053:E134K	ENSP00000006053:E134K	E	+	1	0	CX3CL1	55973651	0.003000	0.15002	0.002000	0.10522	0.027000	0.11550	0.493000	0.22451	0.233000	0.21120	0.650000	0.86243	GAA		0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		4	114	0	0	0	1	0	4	114					A	57416150	G	A	57416150	3	1	506	1	0	0	0	0	1	0	0	0	4074	1059	37	1	410	1	CX3CL1	16	57416150	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	55964475	57416150	32938603	42	40315											
P2RX5	5026	broad.mit.edu	37	chr17	3593419	3593419	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttatgaaaatggtgaagtCttcggcctccttcaggaatg	10	8	2	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:3593419C>A	ENST00000225328.5	-	6	957	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	P2RX5_ENST00000435558.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000345901.3_Missense_Mutation_p.D163Y|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163Y|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000550772.1_5'UTR|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127Y	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	187					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ATGGTGAAGTCTTCGGCCTCC	0.587																																						ENST00000550383.1																			0											c.(559-561)Gac>Tac									198	217	210					17																	3593419		2203	4300	6503	SO:0001583	missense	0							g.chr17:3593419C>A	AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.559G>T	17.37:g.3593419C>A	ENSP00000225328:p.Asp187Tyr					P2RX5_ENST00000345901.3_Missense_Mutation_p.D163Y|P2RX5_ENST00000552276.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000225328.5_Missense_Mutation_p.D187Y|P2RX5_ENST00000552050.1_Missense_Mutation_p.D127Y|P2RX5_ENST00000551178.1_Missense_Mutation_p.D163Y|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.D187Y|P2RX5_ENST00000435558.1_Missense_Mutation_p.D187Y	p.D187Y							6	747	-								G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	ENST00000225328.5	37	c.559G>T	CCDS11034.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.599063|3.599063	0.66332|0.66332	.|.	.|.	ENSG00000083454|ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050|ENST00000552723	T;T;T;T;T;T|.	0.04502|.	3.61;3.61;3.61;3.61;3.61;3.61|.	5.34|5.34	-0.722|-0.722	0.11184|0.11184	.|.	0.360434|.	0.33854|.	N|.	0.004490|.	T|T	0.49270|0.49270	0.1547|0.1547	M|M	0.61703|0.61703	1.905|1.905	0.29701|0.29701	N|N	0.84016|0.84016	D;D;D;D;D;D|.	0.62365|.	0.991;0.984;0.984;0.984;0.987;0.984|.	D;P;P;P;D;P|.	0.65874|.	0.939;0.861;0.891;0.861;0.934;0.891|.	T|T	0.52056|0.52056	-0.8626|-0.8626	10|5	0.87932|.	D|.	0|.	-7.881|-7.881	9.2979|9.2979	0.37827|0.37827	0.0:0.3485:0.0:0.6515|0.0:0.3485:0.0:0.6515	.|.	127;163;187;163;187;187|.	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4|.	.;.;.;.;P2RX5_HUMAN;.|.	Y|I	187;163;187;187;163;127|134	ENSP00000415370:D187Y;ENSP00000447545:D163Y;ENSP00000448355:D187Y;ENSP00000225328:D187Y;ENSP00000342161:D163Y;ENSP00000450006:D127Y|.	ENSP00000225328:D187Y|.	D|R	-|-	1|2	0|0	P2RX5|P2RX5	3540168|3540168	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.864000|0.864000	0.49448|0.49448	1.709000|1.709000	0.37909|0.37909	-0.036000|-0.036000	0.13669|0.13669	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.587	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081		5	497	1	0	0.217242	1	0.217242	5	497					A	3593419	C	A	3593419	3	1	506	1	0	0	0	0	1	0	0	0	11343	913	32	4	737	4	P2RX5	17	3593419	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		3593419	77601791	43	40316											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctggggtggcagcagGtgggctggcagcacacagac	18	10	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(397-399)aCc>aAc		keratin associated protein 4-11							7	13	11					17																	39274170		677	1579	2256	SO:0001583	missense	653240					keratin filament		g.chr17:39274170G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.398C>A	17.37:g.39274170G>T	ENSP00000375232:p.Thr133Asn						p.T133N	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	133			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.398C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108575	0.56291	.	.	ENSG00000212721	ENST00000391413	T	0.01464	4.86	4.58	1.2	0.21068	.	2.577010	0.03019	U	0.150524	T	0.05135	0.0137	M	0.93062	3.375	0.09310	N	1	B	0.33413	0.411	B	0.32022	0.139	T	0.48692	-0.9013	10	0.48119	T	0.1	.	2.0576	0.03585	0.1147:0.2125:0.4176:0.2553	.	133	Q9BYQ6	KR411_HUMAN	N	133	ENSP00000375232:T133N	ENSP00000375232:T133N	T	-	2	0	KRTAP4-11	36527696	0.000000	0.05858	0.916000	0.36221	0.959000	0.62525	-4.569000	0.00214	0.919000	0.36945	0.514000	0.50259	ACC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	82	1	0	0.0293803	1	0.0298061	4	82					T	39274170	G	T	39274170	3	4	506	1	0	0	0	0	1	0	0	0	8549	1261	44	4	193	4	KRTAP4-11	17	39274170	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	35680751	39274170	41921040	44	40317											
PRKCA	5578	broad.mit.edu	37	chr17	64684479	64684479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaatctgggactgggatcGaacaacaaggaatgacttca	11	7	2	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:64684479G>A	ENST00000413366.3	+	7	772	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	249	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	GACTGGGATCGAACAACAAGG	0.463																																						ENST00000413366.3																			0				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						c.(745-747)cGa>cAa		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						168	148	155					17																	64684479		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684479G>A		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.746G>A	17.37:g.64684479G>A	ENSP00000408695:p.Arg249Gln						p.R249Q	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	772	+			249			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.746G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190123	0.94923	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.70164	-0.46	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	T	0.74344	0.3704	M	0.73598	2.24	0.80722	D	1	P;D	0.56035	0.824;0.974	B;P	0.49502	0.426;0.613	T	0.74188	-0.3746	10	0.33141	T	0.24	.	19.101	0.93274	0.0:0.0:1.0:0.0	.	249;160	P17252;Q59FI5	KPCA_HUMAN;.	Q	249;156	ENSP00000408695:R249Q	ENSP00000284384:R156Q	R	+	2	0	PRKCA	62114941	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.535000	0.82014	2.580000	0.87095	0.555000	0.69702	CGA		0.463	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			61	83	0	0	0	1	0	61	83					A	64684479	G	A	64684479	3	1	506	1	0	0	0	0	1	0	0	0	12507	1058	37	1	772	1	PRKCA	17	64684479	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	25410309	64684479	16510731	45	40318											
MYO5B	4645	broad.mit.edu	37	chr18	47369674	47369674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcaccttgagatcgtcGttggtgtagtccgcgtgccg	15	10	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr18:47369674G>A	ENST00000285039.7	-	34	4847	c.4548C>T	c.(4546-4548)aaC>aaT	p.N1516N	MYO5B_ENST00000324581.6_Silent_p.N631N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.N86N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1516					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGAGATCGTCGTTGGTGTAGT	0.567																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4546-4548)aaC>aaT		myosin VB							108	108	108					18																	47369674		2077	4210	6287	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47369674G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4548C>T	18.37:g.47369674G>A						MYO5B_ENST00000324581.6_Silent_p.N631N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.N86N	p.N1516N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	34	4847	-			1516					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4548C>T	CCDS42436.1																																																																																				0.567	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			64	72	0	0	0	1	0	64	72					A	47369674	G	A	47369674	2	1	506	1	0	0	0	0	0	0	0	1	10079	1136	40	1		1	MYO5B	18	47369674	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		47369674	30707574	46	40319											
ARHGEF18	23370	broad.mit.edu	37	chr19	7528785	7528785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggcagctccacaggccCgcccaggagggctgagacct	15	15	0	1	rs149572002		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:7528785C>T	ENST00000359920.6	+	12	2406	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	718					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 cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCACAGGCCCGCCCAGGAGG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14064	0.0		0.001	False		,,,				2504	0.0					ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2152-2154)cCg>cTg		Rho/Rac guanine nucleotide exchange factor (GEF) 18		C	LEU/PRO,LEU/PRO	1,4383		0,1,2191	20	22	21		2153,1679	1.1	0	19	dbSNP_134	21	0,8566		0,0,4283	no	missense,missense	ARHGEF18	NM_001130955.1,NM_015318.3	98,98	0,1,6474	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	718/1174,560/1016	7528785	1,12949	2192	4283	6475	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7528785C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2153C>T	19.37:g.7528785C>T	ENSP00000352995:p.Pro718Leu					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C	p.P718L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			12	2406	+		Renal(5;0.0902)	718					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2153C>T	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.485748	0.26686	2.28E-4	0.0	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.15256	2.44;2.44	4.63	1.11	0.20524	.	1.219970	0.06317	N	0.703805	T	0.04634	0.0126	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37888	-0.9686	10	0.25106	T	0.35	-0.1488	7.7201	0.28727	0.0:0.2705:0.0:0.7295	.	560;718	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	L	560;718	ENSP00000319200:P560L;ENSP00000352995:P718L	ENSP00000319200:P560L	P	+	2	0	ARHGEF18	7434785	0.087000	0.21565	0.014000	0.15608	0.370000	0.29829	1.591000	0.36665	-0.027000	0.13873	-0.477000	0.04895	CCG		0.682	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		10	12	0	0	0	1	0	10	12					T	7528785	C	T	7528785	3	4	506	1	0	0	0	0	1	0	0	0	901	652	23	1	2199	1	ARHGEF18	19	7528785	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		7528785	51600198	47	40320											
ZNF558	148156	broad.mit.edu	37	chr19	8923829	8923829	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtgcttggtagaattcctCtttcctctgtcaccaccttc	7	13	3	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:8923829C>G	ENST00000601372.1	-	8	1028	c.317G>C	c.(316-318)aGa>aCa	p.R106T	ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T|ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	106	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)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGAATTCCTCTTTCCTCTGT	0.463																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(316-318)aGa>aCa		zinc finger protein 558							208	167	181					19																	8923829		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8923829C>G	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.317G>C	19.37:g.8923829C>G	ENSP00000471277:p.Arg106Thr					ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T|ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T	p.R106T			Q96NG5	ZN558_HUMAN			8	1028	-			106			KRAB.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.317G>C	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	4.533	0.098899	0.08681	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.08193	3.24;3.12	3.96	2.92	0.33932	Krueppel-associated box (1);	0.000000	0.37437	N	0.002090	T	0.06280	0.0162	L	0.48986	1.54	0.25691	N	0.985685	B	0.30068	0.267	B	0.19666	0.026	T	0.33727	-0.9857	10	0.10636	T	0.68	-13.5609	7.3129	0.26485	0.0:0.8817:0.0:0.1183	.	106	Q96NG5	ZN558_HUMAN	T	106;35	ENSP00000301475:R106T;ENSP00000410703:R35T	ENSP00000301475:R106T	R	-	2	0	ZNF558	8784829	0.000000	0.05858	0.141000	0.22245	0.013000	0.08279	-0.155000	0.10115	1.255000	0.44051	0.591000	0.81541	AGA		0.463	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		11	8	0	0	0	1	0	11	8					G	8923829	C	G	8923829	3	3	506	1	0	0	0	0	1	0	0	0	17986	913	32	4	903	4	ZNF558	19	8923829	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	1395044	8923829	50205154	48	40321											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941471	13941471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccactccctgggccgGcacgagctctctgccatcgt	10	18	2	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:13941471G>A	ENST00000254323.2	+	13	2766	c.2577G>A	c.(2575-2577)cgG>cgA	p.R859R	ZSWIM4_ENST00000440752.2_Silent_p.R693R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	859							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)			CCCTGGGCCGGCACGAGCTCT	0.657																																						ENST00000254323.2																			0				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						c.(2575-2577)cgG>cgA		zinc finger, SWIM-type containing 4							120	116	117					19																	13941471		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941471G>A	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.2577G>A	19.37:g.13941471G>A						ZSWIM4_ENST00000440752.2_Silent_p.R693R	p.R859R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2766	+			859						Silent	SNP	ENST00000254323.2	37	c.2577G>A	CCDS32924.1																																																																																				0.657	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		5	370	0	0	0	1	0	5	370					A	13941471	G	A	13941471	2	1	506	1	0	0	0	0	0	0	0	1	18240	1190	42	2		2	ZSWIM4	19	13941471	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	5017642	13941471	45187512	49	40322											
F2RL3	9002	broad.mit.edu	37	chr19	17000696	17000696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccacctgcgtggccagcGctggcccttcggggaggccg	15	16	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17000696G>A	ENST00000248076.3	+	2	752	c.422G>A	c.(421-423)cGc>cAc	p.R141H	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	141					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGGCCAGCGCTGGCCCTTC	0.711																																						ENST00000248076.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(421-423)cGc>cAc		coagulation factor II (thrombin) receptor-like 3							7	8	7					19																	17000696		2110	4106	6216	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000696G>A	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.422G>A	19.37:g.17000696G>A	ENSP00000248076:p.Arg141His					F2RL3_ENST00000599210.1_3'UTR	p.R141H	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN			2	752	+			141					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.422G>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	8.687	0.906465	0.17833	.	.	ENSG00000127533	ENST00000248076	T	0.72282	-0.64	4.28	-0.465	0.12157	GPCR, rhodopsin-like superfamily (1);	0.390991	0.24242	N	0.040260	T	0.36826	0.0981	N	0.02213	-0.635	0.29815	N	0.831291	B	0.11235	0.004	B	0.11329	0.006	T	0.29701	-1.0003	10	0.15952	T	0.53	.	7.3048	0.26440	0.6227:0.0:0.3773:0.0	.	141	Q96RI0	PAR4_HUMAN	H	141	ENSP00000248076:R141H	ENSP00000248076:R141H	R	+	2	0	F2RL3	16861696	1.000000	0.71417	0.757000	0.31301	0.052000	0.14988	2.011000	0.40922	0.239000	0.21243	-0.362000	0.07510	CGC		0.711	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			17	15	0	0	0	1	0	17	15					A	17000696	G	A	17000696	3	1	506	1	0	0	0	0	1	0	0	0	5346	1087	38	1	428	1	F2RL3	19	17000696	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	3059225	17000696	42128287	50	40323											
ANO8	57719	broad.mit.edu	37	chr19	17439421	17439422	+	In_Frame_Ins	INS	-	-	TCC													cgtcctcctcttcctcctcgINStcctcctcctcctcgtcgtc							TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17439421_17439422insTCC	ENST00000159087.4	-	13	1933_1934	c.1775_1776insGGA	c.(1774-1776)gac>gaGGAc	p.591_592insE		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	591	Glu-rich.				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						cttcctcctcgtcctcctcctc	0.743																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(1774-1776)gga>gGGAga		anoctamin 8																																				SO:0001652	inframe_insertion	57719					chloride channel complex	chloride channel activity	g.chr19:17439421_17439422insTCC	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.1773_1775dupGGA	19.37:g.17439428_17439430dupTCC	ENSP00000159087:p.Glu596_Glu597dup						p.592_593insR	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			13	1933_1934	-			592			Glu-rich.		A6NIJ0	In_Frame_Ins	INS	ENST00000159087.4	37	c.1775_1776insGGA	CCDS32949.1																																																																																				0.743	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		2	4						2	4	---	---	---	---	TCC	17439422	-	TCC	17439421	7	5	506	1	0	1	1	0	0	0	0	0	703	1136	40	0	1946	0	ANO8	19	17439421	In_Frame_Ins	INS	-	TCGA-VW-A7QS-01A-12D-A33T-08	438725	17439421	41689562	51	40324											
NINL	22981	broad.mit.edu	37	chr20	25507065	25507065	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctggcgaaatggtcgtttccGagaagcgtctgcaggaggac	15	9	1	1	rs142387243		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:25507065G>T	ENST00000278886.6	-	2	232	c.159C>A	c.(157-159)ctC>ctA	p.L53L	NINL_ENST00000422516.1_Silent_p.L53L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	53	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						GGTCGTTTCCGAGAAGCGTCT	0.542																																						ENST00000278886.6																			0				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						c.(157-159)ctC>ctA		ninein-like							118	125	123					20																	25507065		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507065G>T		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.159C>A	20.37:g.25507065G>T						NINL_ENST00000422516.1_Silent_p.L53L	p.L53L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			2	232	-			53			EF-hand 2.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.159C>A	CCDS33452.1																																																																																				0.542	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		108	165	1	0	7.5252e-50	1	8.10406e-50	108	165					T	25507065	G	T	25507065	2	4	506	1	0	0	0	0	0	0	0	1	10420	1045	37	4		4	NINL	20	25507065	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		25507065	37518455	52	40325											
ZHX3	23051	broad.mit.edu	37	chr20	39832611	39832611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcttcaggaagctgtTagagtccatggctgcattgt	13	7	2	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:39832611T>C	ENST00000309060.3	-	4	1361	c.946A>G	c.(946-948)Aac>Gac	p.N316D	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	316	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGAAGCTGTTAGAGTCCATG	0.537																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(946-948)Aac>Gac		zinc fingers and homeoboxes 3							106	100	102					20																	39832611		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832611T>C	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.946A>G	20.37:g.39832611T>C	ENSP00000312222:p.Asn316Asp					ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D	p.N316D			Q9H4I2	ZHX3_HUMAN			4	1361	-		Myeloproliferative disorder(115;0.00425)	316			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.946A>G	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179069	0.57692	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.37058	1.22;2.63;2.63;2.41;1.22	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.141163	0.64402	D	0.000008	T	0.60856	0.2301	M	0.70275	2.135	0.39858	D	0.97333	D;D;D	0.89917	0.997;0.985;1.0	D;D;D	0.91635	0.974;0.94;0.999	T	0.65434	-0.6169	10	0.66056	D	0.02	-34.744	16.3009	0.82811	0.0:0.0:0.0:1.0	.	316;316;316	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	D	316;316;316;316;94;316	ENSP00000312222:N316D;ENSP00000362360:N316D;ENSP00000442290:N316D;ENSP00000443783:N316D;ENSP00000415498:N316D	ENSP00000312222:N316D	N	-	1	0	ZHX3	39266025	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.143000	0.64826	2.246000	0.74042	0.533000	0.62120	AAC		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		16	122	0	0	0	1	0	16	122					C	39832611	T	C	39832611	3	2	506	1	0	0	0	0	1	0	0	0	17674	1754	61	3	1932	3	ZHX3	20	39832611	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	14325546	39832611	23192909	53	40326											
USP25	29761	broad.mit.edu	37	chr21	17203875	17203876	+	Frame_Shift_Del	DEL	TT	TT	-													gaagagctagtgagggactcTtttggtggttatagaaatgc							TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr21:17203875_17203876delTT	ENST00000285679.6	+	16	2289_2290	c.1920_1921delTT	c.(1918-1923)tcttttfs	p.F641fs	USP25_ENST00000400183.2_Frame_Shift_Del_p.F641fs|USP25_ENST00000285681.2_Frame_Shift_Del_p.F641fs|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	641	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGGGACTCTTTTGGTGGTTA	0.366																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1918-1923)tcttfs		ubiquitin specific peptidase 25																																				SO:0001589	frameshift_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17203875_17203876delTT	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1920_1921delTT	21.37:g.17203877_17203878delTT	ENSP00000285679:p.Phe641fs					USP25_ENST00000285679.6_Frame_Shift_Del_p.SF640fs|USP25_ENST00000400183.2_Frame_Shift_Del_p.SF640fs|USP25_ENST00000351097.5_Intron	p.SF640fs			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	16	2289_2290	+			640					C0LSZ0|Q6DHZ9|Q9H9W1	Frame_Shift_Del	DEL	ENST00000285679.6	37	c.1920_1921delTT	CCDS33515.1																																																																																				0.366	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			72	139						72	139	---	---	---	---	-	17203876	TT	-	17203875	7	5	506	1	0	1	0	1	0	0	0	0	17053	1596	56	0	1982	0	USP25	21	17203875	Frame_Shift_Del	DEL	TT	TCGA-VW-A7QS-01A-12D-A33T-08		17203875	30926020	54	40327											
CRLF2	64109	broad.mit.edu	37	chrX	1325396	1325396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggagaaatagagaatGtcgtctcgctgctctgcgtc	12	9	2	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:1325396G>A	ENST00000381567.3	-	3	278	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CRLF2_ENST00000381566.1_Silent_p.D93D|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	93					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)				AATAGAGAATGTCGTCTCGCT	0.517			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"																																	ENST00000381567.3				Dom	yes		"X,Y"	Xp22.3; Yp11.3	64109	"Mis, T"	cytokine receptor-like factor 2			L	"P2RY8, IGH@"		"B-ALL, Downs associated ALL"		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(277-279)gaC>gaT		cytokine receptor-like factor 2							242	238	239					X																	1325396		2007	4142	6149	SO:0001819	synonymous_variant	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1325396G>A	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.279C>T	X.37:g.1325396G>A						CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.D93D	p.D93D	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			3	278	-		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)	93					Q9H5R3	Silent	SNP	ENST00000381567.3	37	c.279C>T																																																																																					0.517	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		25	189	0	0	0	1	0	25	189					A	1325396	G	A	1325396	2	1	506	1	0	0	0	0	0	0	0	1	3887	1368	48	2		2	CRLF2	23	1325396	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		1325396	153945164	55	40328											
SHROOM2	357	broad.mit.edu	37	chrX	9907313	9907313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgtcggcccccaaggcGgagctgctgatcaagatgaa	13	12	1	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:9907313G>A	ENST00000380913.3	+	8	4308	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	SHROOM2_ENST00000418909.2_Silent_p.A241A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)				CCCCCAAGGCGGAGCTGCTGA	0.597													G|||	1	0.000264901	0.0	0.0	3775	,	,		14189	0.0		0.0	False		,,,				2504	0.001					ENST00000380913.3																			0				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						c.(4216-4218)gcG>gcA		shroom family member 2							60	44	49					X																	9907313		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9907313G>A	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.4218G>A	X.37:g.9907313G>A						SHROOM2_ENST00000418909.2_Silent_p.A241A	p.A1406A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			8	4308	+		Hepatocellular(5;0.000888)	1406			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4218G>A	CCDS14135.1																																																																																				0.597	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		20	29	0	0	0	1	0	20	29					A	9907313	G	A	9907313	2	1	506	1	0	0	0	0	0	0	0	1	14294	1103	39	1		1	SHROOM2	23	9907313	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	8581917	9907313	145363247	56	40329											
SH3KBP1	30011	broad.mit.edu	37	chrX	19713826	19713826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaacattccagtcttccCgttgagaacaccttcccacc	6	15	1	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:19713826C>A	ENST00000397821.3	-	5	714	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	142	SH3 2. {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						CCAGTCTTCCCGTTGAGAACA	0.473																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(424-426)Ggg>Tgg		SH3-domain kinase binding protein 1							143	116	125					X																	19713826		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19713826C>A	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.424G>T	X.37:g.19713826C>A	ENSP00000380921:p.Gly142Trp					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W	p.G142W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			5	714	-			142			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.424G>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701178	0.88924	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.94	5.94	0.96194	Src homology-3 domain (3);Variant SH3 (1);	0.592403	0.18384	N	0.142877	D	0.90872	0.7132	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94421	0.7641	10	0.87932	D	0	-16.284	19.2985	0.94132	0.0:1.0:0.0:0.0	.	142;105	Q96B97;Q5JPT5	SH3K1_HUMAN;.	W	83;142;50;105;78;142;89;50	ENSP00000380921:G142W;ENSP00000369020:G105W;ENSP00000369049:G78W;ENSP00000369019:G142W;ENSP00000388766:G89W;ENSP00000409292:G50W	ENSP00000369019:G142W	G	-	1	0	SH3KBP1	19623747	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.214000	0.77958	2.509000	0.84616	0.529000	0.55759	GGG		0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		13	224	1	0	0.000219431	1	0.00023273	13	224					A	19713826	C	A	19713826	3	1	506	1	0	0	0	0	1	0	0	0	14255	652	23	4	1645	4	SH3KBP1	23	19713826	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	9806513	19713826	135556734	57	40330											
GAGE2A	729447	broad.mit.edu	37	chrX	49355814	49355816	+	In_Frame_Del	DEL	TGA	TGA	-													ccccagcccgagcagttcagTgatgaagtggaaccagcaac							TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:49355814_49355816delTGA	ENST00000362097.1	+	3	179_181	c.96_98delTGA	c.(94-99)agtgat>agt	p.D33del		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	33										endometrium(4)	4	Ovarian(276;0.236)					AGCAGTTCAGTGATGAAGTGGAA	0.453																																						ENST00000362097.1																			0				endometrium(4)	4						c.(94-99)agt>ag		G antigen 2A																																				SO:0001651	inframe_deletion	729447							g.chrX:49355814_49355816delTGA	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.96_98delTGA	X.37:g.49355817_49355819delTGA	ENSP00000355421:p.Asp33del						p.SD32del	NM_001127212.1	NP_001120684.1					3	179_181	+	Ovarian(276;0.236)								In_Frame_Del	DEL	ENST00000362097.1	37	c.96_98delTGA	CCDS48114.1																																																																																				0.453	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			15	1285						15	1285	---	---	---	---	-	49355816	TGA	-	49355814	7	5	506	1	0	1	0	1	0	0	0	0	6190	1693	59	0	1203	0	GAGE2A	23	49355814	In_Frame_Del	DEL	TGA	TCGA-VW-A7QS-01A-12D-A33T-08	29641988	49355814	105914746	58	40331											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424320	69424320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccggggcttcactcgCggatcctggggcttcctgcc	14	15	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:69424320C>T	ENST00000333026.3	+	6	913	c.813C>T	c.(811-813)cgC>cgT	p.R271R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	271					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GCTTCACTCGCGGATCCTGGG	0.502																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(811-813)cgC>cgT		diacylglycerol O-acyltransferase 2-like 6							74	69	71					X																	69424320		2203	4300	6503	SO:0001819	synonymous_variant	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424320C>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.813C>T	X.37:g.69424320C>T							p.R271R	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			6	913	+			271					Q6IEE2	Silent	SNP	ENST00000333026.3	37	c.813C>T	CCDS14397.1																																																																																				0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		65	86	0	0	0	1	0	65	86					T	69424320	C	T	69424320	2	4	506	1	0	0	0	0	0	0	0	1	4459	755	27	1		1	DGAT2L6	23	69424320	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	20068506	69424320	85846240	59	40332											
RGAG1	57529	broad.mit.edu	37	chrX	109694736	109694736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggggaatacctaccccGctcatgtcagatctagactc	9	13	4	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:109694736G>A	ENST00000465301.2	+	3	1137	c.891G>A	c.(889-891)ccG>ccA	p.P297P	RGAG1_ENST00000540313.1_Silent_p.P297P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	297										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						TACCTACCCCGCTCATGTCAG	0.483																																						ENST00000465301.2																			0				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						c.(889-891)ccG>ccA		retrotransposon gag domain containing 1							180	155	164					X																	109694736		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694736G>A	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.891G>A	X.37:g.109694736G>A						RGAG1_ENST00000540313.1_Silent_p.P297P	p.P297P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1137	+			297					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.891G>A	CCDS14552.1																																																																																				0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		5	431	0	0	0	1	0	5	431					A	109694736	G	A	109694736	2	1	506	1	0	0	0	0	0	0	0	1	13274	1074	38	1		1	RGAG1	23	109694736	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	40270416	109694736	45575824	60	40333											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					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)	p.Q394Q(1)		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						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	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						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	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.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	99	0	0	0	1	0	4	99					T	112058796	C	T	112058796	2	4	506	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	2364060	112058796	43211764	61	40334											
PLEKHN1	84069	broad.mit.edu	37	chr1	905681	905681	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggacctggagaaccagCgagaaaacctggagcagcca	12	12	0	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:905681C>T	ENST00000379409.2	+	3	238	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.3_Nonsense_Mutation_p.R70*			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	70										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGAACCAGCGAGAAAACCT	0.617																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(208-210)Cga>Tga		pleckstrin homology domain containing, family N member 1							38	41	40					1																	905681		2202	4300	6502	SO:0001587	stop_gained	84069							g.chr1:905681C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"Pleckstrin homology (PH) domain containing"	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.208C>T	1.37:g.905681C>T	ENSP00000368719:p.Arg70*					PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.2_Nonsense_Mutation_p.R70*	p.R70*			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	3	238	+	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)	70					Q494U2|Q5SV98|Q9H0M7	Nonsense_Mutation	SNP	ENST00000379409.2	37	c.208C>T		.	.	.	.	.	.	.	.	.	.	C	14.30	2.494249	0.44352	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	.	.	.	5.11	3.06	0.35304	.	1.134170	0.06963	N	0.816714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9582	0.24583	0.2667:0.5771:0.1562:0.0	.	.	.	.	X	70	.	ENSP00000368717:R70X	R	+	1	2	PLEKHN1	895544	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.416000	0.21198	1.358000	0.45922	0.643000	0.83706	CGA		0.617	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		11	25	0	0	0	1	0	11	25					T	905681	C	T	905681	4	4	507	1	0	0	0	0	0	1	0	0	12083	760	27	1	218	1	PLEKHN1	1	905681	Nonsense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		905681	248344940	1	40335											
GABRD	2563	broad.mit.edu	37	chr1	1957053	1957053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctggacagccgcttcGtggacaagctgtggctgccc	15	12	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:1957053G>A	ENST00000378585.4	+	4	429	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	116					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)	CAGCCGCTTCGTGGACAAGCT	0.617																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(346-348)Gtg>Atg		gamma-aminobutyric acid (GABA) A receptor, delta							96	94	95					1																	1957053		2203	4300	6503	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957053G>A	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.346G>A	1.37:g.1957053G>A	ENSP00000367848:p.Val116Met						p.V116M	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		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)	4	429	+	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)	116					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.346G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100575	0.94245	.	.	ENSG00000187730	ENST00000378585	T	0.78707	-1.2	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83478	0.5263	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85455	0.1163	10	0.72032	D	0.01	-2.5669	16.5096	0.84281	0.0:0.0:1.0:0.0	.	116	O14764	GBRD_HUMAN	M	116	ENSP00000367848:V116M	ENSP00000367848:V116M	V	+	1	0	GABRD	1946913	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	9.364000	0.97136	2.444000	0.82710	0.561000	0.74099	GTG		0.617	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		28	40	0	0	0	1	0	28	40					A	1957053	G	A	1957053	3	1	507	1	0	0	0	0	1	0	0	0	6169	1145	40	1	360	1	GABRD	1	1957053	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	1051372	1957053	247293568	2	40336											
ASAP3	55616	broad.mit.edu	37	chr1	23758408	23758408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctggagacttcagaaCgatctggaatcagaaacatc	10	9	4	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:23758408C>T	ENST00000336689.3	-	23	2371	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H|ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	776					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACTTCAGAACGATCTGGAAT	0.502																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2326-2328)cGt>cAt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							26	30	29					1																	23758408		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23758408C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2327G>A	1.37:g.23758408C>T	ENSP00000338769:p.Arg776His					ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H|ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H|ASAP3_ENST00000484906.1_5'UTR	p.R776H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			23	2371	-			776					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.2327G>A	CCDS235.1	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853606	0.17106	.	.	ENSG00000088280	ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.54071	1.95;0.59;0.59	4.71	0.591	0.17465	.	47.639000	0.00166	N	0.000000	T	0.41351	0.1155	N	0.24115	0.695	0.09310	N	0.999999	B;B;B;B	0.13594	0.008;0.004;0.001;0.002	B;B;B;B	0.10450	0.005;0.002;0.001;0.001	T	0.29305	-1.0016	10	0.45353	T	0.12	.	7.8811	0.29623	0.0:0.6305:0.0:0.3695	.	767;666;299;776	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	H	280;776;76;767	ENSP00000436150:R280H;ENSP00000338769:R776H;ENSP00000408826:R767H	ENSP00000338769:R776H	R	-	2	0	ASAP3	23630995	0.735000	0.28153	0.090000	0.20809	0.750000	0.42670	0.577000	0.23758	0.008000	0.14787	-1.429000	0.01096	CGT		0.502	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		10	21	0	0	0	1	0	10	21					T	23758408	C	T	23758408	3	4	507	1	0	0	0	0	1	0	0	0	1012	536	19	1	396	1	ASAP3	1	23758408	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	21801355	23758408	225492213	3	40337											
USP24	23358	broad.mit.edu	37	chr1	55563343	55563343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctcattaggtgaattacCaagacgctaggtaaagattt	8	6	1	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:55563343C>T	ENST00000294383.6	-	48	5642	c.5643G>A	c.(5641-5643)ttG>ttA	p.L1881L	USP24_ENST00000407756.1_Silent_p.L1721L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1881	USP.				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						GGTGAATTACCAAGACGCTAG	0.338																																						ENST00000294383.6																			0				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						c.(5641-5643)ttG>ttA		ubiquitin specific peptidase 24							40	37	38					1																	55563343		1800	4064	5864	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55563343C>T	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.5643G>A	1.37:g.55563343C>T						USP24_ENST00000407756.1_Silent_p.L1721L	p.L1881L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			48	5642	-			1881					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.5643G>A	CCDS44154.2																																																																																				0.338	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	9	0	0	0	1	0	7	9					T	55563343	C	T	55563343	2	4	507	1	0	0	0	0	0	0	0	1	17052	593	21	2		2	USP24	1	55563343	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	31804935	55563343	193687278	4	40338											
SORT1	6272	broad.mit.edu	37	chr1	109883360	109883360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccttcggagagcacgCttgttatgtagacgccgcgg	12	12	1	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:109883360C>T	ENST00000256637.6	-	10	1308	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	417					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGAGAGCACGCTTGTTATGTA	0.537																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1249-1251)aGc>aAc		sortilin 1							155	121	132					1																	109883360		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109883360C>T	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1250G>A	1.37:g.109883360C>T	ENSP00000256637:p.Ser417Asn					SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	p.S417N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	10	1308	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	417					B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1250G>A	CCDS798.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247230	0.80024	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.21932	1.98;1.98	5.61	5.61	0.85477	VPS10 (1);	0.116742	0.85682	N	0.000000	T	0.06416	0.0165	N	0.13168	0.305	0.80722	D	1	B;P	0.44281	0.019;0.831	B;B	0.42495	0.045;0.389	T	0.03493	-1.1031	10	0.02654	T	1	-17.8645	18.764	0.91865	0.0:1.0:0.0:0.0	.	280;417	B4DWI3;Q99523	.;SORT_HUMAN	N	417;280	ENSP00000256637:S417N;ENSP00000438597:S280N	ENSP00000256637:S417N	S	-	2	0	SORT1	109684883	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.562000	0.82300	2.804000	0.96469	0.651000	0.88453	AGC		0.537	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		21	23	0	0	0	1	0	21	23					T	109883360	C	T	109883360	3	4	507	1	0	0	0	0	1	0	0	0	14935	797	28	2	1289	2	SORT1	1	109883360	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	54320017	109883360	139367261	5	40339											
FCER1A	2205	broad.mit.edu	37	chr1	159275806	159275806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccttcaggcctctgctgaGgtggtgatggagggccagcc	15	12	2	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:159275806G>T	ENST00000368115.1	+	5	459	c.360G>T	c.(358-360)gaG>gaT	p.E120D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	120	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCTCTGCTGAGGTGGTGATGG	0.448																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(358-360)gaG>gaT		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						60	59	59					1																	159275806		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275806G>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.360G>T	1.37:g.159275806G>T	ENSP00000357097:p.Glu120Asp					FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	p.E120D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	459	+	all_hematologic(112;0.0429)		120			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.360G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197626	0.09652	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12465	2.68;2.68	4.69	-4.04	0.04010	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.216450	0.05746	N	0.602318	T	0.01320	0.0043	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45308	-0.9270	10	0.15952	T	0.53	.	1.0389	0.01555	0.1636:0.2464:0.2377:0.3522	.	120	P12319	FCERA_HUMAN	D	120;87	ENSP00000357097:E120D;ENSP00000357096:E87D	ENSP00000357096:E87D	E	+	3	2	FCER1A	157542430	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.039000	0.03550	-0.716000	0.04962	0.585000	0.79938	GAG		0.448	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		19	32	1	0	5.03518e-11	1	5.37463e-11	19	32					T	159275806	G	T	159275806	3	4	507	1	0	0	0	0	1	0	0	0	5774	991	35	4	374	4	FCER1A	1	159275806	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	49392446	159275806	89974815	6	40340											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628858	128628858	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagtcctgaatgaagAttcatggctgagaaggtccc	11	10	1	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:128628858A>G	ENST00000272647.5	-	4	743	c.483T>C	c.(481-483)aaT>aaC	p.N161N	AMMECR1L_ENST00000393001.1_Silent_p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	161	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTGAATGAAGATTCATGGCTG	0.448																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(481-483)aaT>aaC		AMMECR1-like							76	74	75					2																	128628858		2203	4300	6503	SO:0001819	synonymous_variant	83607							g.chr2:128628858A>G		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"AMME chromosomal region gene 1-like"				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.483T>C	2.37:g.128628858A>G						AMMECR1L_ENST00000393001.1_Silent_p.N161N	p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	4	743	-	Colorectal(110;0.1)		161			AMMECR1.		B4E276	Silent	SNP	ENST00000272647.5	37	c.483T>C	CCDS2152.1																																																																																				0.448	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		21	25	0	0	0	1	0	21	25					G	128628858	A	G	128628858	2	3	507	1	0	0	0	0	0	0	0	1	579	330	12	3		3	AMMECR1L	2	128628858	Silent	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08		128628858	114570515	7	40341											
TTN	7273	broad.mit.edu	37	chr2	179489454	179489454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttagtgaattcaactggGggttctgaaagaatcatact	11	6	3	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179489454G>A	ENST00000591111.1	-	192	39854	c.39630C>T	c.(39628-39630)ccC>ccT	p.P13210P	TTN_ENST00000342992.6_Silent_p.P12283P|TTN_ENST00000589042.1_Silent_p.P14851P|TTN_ENST00000342175.6_Silent_p.P5978P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.P5911P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P5786P			Q8WZ42	TITIN_HUMAN	titin	13210	Ig-like 88.				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)			ATTCAACTGGGGGTTCTGAAA	0.478																																						ENST00000589042.1																			0				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						c.(44551-44553)ccC>ccT		titin							54	54	54					2																	179489454		1841	4077	5918	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489454G>A	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.39630C>T	2.37:g.179489454G>A						TTN_ENST00000342175.6_Silent_p.P5978P|TTN_ENST00000460472.2_Silent_p.P5786P|TTN_ENST00000359218.5_Silent_p.P5911P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P13210P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P12283P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.P14851P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	44777	-			13210			Fibronectin type-III 7.		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	ENST00000591111.1	37	c.44553C>T																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	21	0	0	0	1	0	21	21					A	179489454	G	A	179489454	2	1	507	1	0	0	0	0	0	0	0	1	16732	1219	43	2		2	TTN	2	179489454	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	50860596	179489454	63709919	8	40342											
TTN	7273	broad.mit.edu	37	chr2	179640529	179640529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cataggattcatccttctttCgagacttgagctccacagcg	8	12	2	2	rs150884428		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179640529C>T	ENST00000591111.1	-	28	6286	c.6062G>A	c.(6061-6063)cGa>cAa	p.R2021Q	TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q|TTN_ENST00000589042.1_Missense_Mutation_p.R2021Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q			Q8WZ42	TITIN_HUMAN	titin	12808					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)			ATCCTTCTTTCGAGACTTGAG	0.458																																						ENST00000589042.1																			0				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						c.(6061-6063)cGa>cAa		titin							133	138	137					2																	179640529		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640529C>T	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.6062G>A	2.37:g.179640529C>T	ENSP00000465570:p.Arg2021Gln					TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2021Q|TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q	p.R2021Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6286	-			1783					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	ENST00000591111.1	37	c.6062G>A		.	.	.	.	.	.	.	.	.	.	C	13.55	2.269774	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63913	-0.07;0.11;0.09;0.08;0.25	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.72170	0.3427	L	0.34521	1.04	0.41863	D	0.990236	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.992;0.992;0.992;0.999	T	0.76127	-0.3073	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1975;1975;1975;2021;2021	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2021;1975;1975;1975;1975;2021	ENSP00000343764:R2021Q;ENSP00000434586:R1975Q;ENSP00000340554:R1975Q;ENSP00000352154:R1975Q;ENSP00000354117:R2021Q	ENSP00000340554:R1975Q	R	-	2	0	TTN	179348774	1.000000	0.71417	0.939000	0.37840	0.778000	0.44026	7.779000	0.85648	2.387000	0.81309	0.609000	0.83330	CGA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	159	0	0	0	1	0	21	159					T	179640529	C	T	179640529	3	4	507	1	0	0	0	0	1	0	0	0	16732	884	31	1	105266	1	TTN	2	179640529	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	151075	179640529	63558844	9	40343											
ZDBF2	57683	broad.mit.edu	37	chr2	207170473	207170473	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagaggttcagaaatgagTtttgattgcagttcctcttt	9	6	3	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:207170473T>C	ENST00000374423.3	+	5	1607	c.1221T>C	c.(1219-1221)agT>agC	p.S407S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	407							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						CAGAAATGAGTTTTGATTGCA	0.403																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1219-1221)agT>agC		zinc finger, DBF-type containing 2							112	110	111					2																	207170473		1866	4110	5976	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207170473T>C	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.1221T>C	2.37:g.207170473T>C							p.S407S	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1607	+			407					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.1221T>C	CCDS46501.1																																																																																				0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		29	33	0	0	0	1	0	29	33					C	207170473	T	C	207170473	2	2	507	1	0	0	0	0	0	0	0	1	17596	1722	60	3		3	ZDBF2	2	207170473	Silent	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	27529944	207170473	36028900	10	40344											
SLC4A3	6508	broad.mit.edu	37	chr2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagctgatgctggaccGcagccaggagccccactggc	14	14	0	1	rs185822333	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					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)		ATGCTGGACCGCAGCCAGGAG	0.667													G|||	2	0.000399361	0.0	0.0	5008	,	,		17507	0.002		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(994-996)cGc>cAc		solute carrier family 4 (anion exchanger), member 3							38	44	42					2																	220497018		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220497018G>A		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.995G>A	2.37:g.220497018G>A	ENSP00000350756:p.Arg332His					SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H	p.R332H			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1507	+		Renal(207;0.0183)	332					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.995G>A	CCDS2445.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.185146	0.78677	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	3.85	2.96	0.34315	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.215051	0.40144	N	0.001179	T	0.69196	0.3084	N	0.08118	0	0.30454	N	0.775007	P;P	0.49961	0.818;0.93	B;P	0.53401	0.416;0.725	T	0.67791	-0.5579	10	0.62326	D	0.03	.	6.4671	0.21987	0.2241:0.0:0.7759:0.0	.	332;359	P48751;P48751-3	B3A3_HUMAN;.	H	332;332;359;359;332;134	ENSP00000350756:R332H;ENSP00000362865:R332H;ENSP00000273063:R359H;ENSP00000362867:R359H;ENSP00000314006:R332H;ENSP00000414722:R134H	ENSP00000273063:R359H	R	+	2	0	SLC4A3	220205262	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.221000	0.58574	2.126000	0.65437	0.561000	0.74099	CGC		0.667	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		23	22	0	0	0	1	0	23	22					A	220497018	G	A	220497018	3	1	507	1	0	0	0	0	1	0	0	0	14655	1087	38	1	1102	1	SLC4A3	2	220497018	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	13326545	220497018	22702355	11	40345											
ATP2B2	491	broad.mit.edu	37	chr3	10417231	10417231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtactgcacgtagacgggCgtgcactcaggcagccacgg	14	12	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:10417231C>T	ENST00000352432.4	-	10	1368	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	ATP2B2_ENST00000397077.1_Silent_p.T388T|ATP2B2_ENST00000383800.4_Silent_p.T388T|ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	433					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTAGACGGGCGTGCACTCAG	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1162-1164)acG>acA		ATPase, Ca++ transporting, plasma membrane 2							89	77	81					3																	10417231		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417231C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1299G>A	3.37:g.10417231C>T						ATP2B2_ENST00000383800.4_Silent_p.T388T|ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000352432.4_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T	p.T388T			Q01814	AT2B2_HUMAN			10	1739	-			433					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1164G>A	CCDS33701.1																																																																																				0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		24	45	0	0	0	1	0	24	45					T	10417231	C	T	10417231	2	4	507	1	0	0	0	0	0	0	0	1	1140	755	27	1		1	ATP2B2	3	10417231	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		10417231	187605199	12	40346											
DHX30	22907	broad.mit.edu	37	chr3	47887324	47887324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccatcctccgcaagatAgagaccttcctgaaccatgt	8	14	0	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:47887324A>G	ENST00000445061.1	+	10	1481	c.1074A>G	c.(1072-1074)atA>atG	p.I358M	DHX30_ENST00000348968.4_Missense_Mutation_p.I330M|DHX30_ENST00000457607.1_Missense_Mutation_p.I386M|DHX30_ENST00000446256.2_Missense_Mutation_p.I319M	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	358						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)		TCCGCAAGATAGAGACCTTCC	0.597																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(955-957)atA>atG		DEAH (Asp-Glu-Ala-His) box helicase 30							98	83	89					3																	47887324		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887324A>G	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.1074A>G	3.37:g.47887324A>G	ENSP00000405620:p.Ile358Met					DHX30_ENST00000457607.1_Missense_Mutation_p.I386M|DHX30_ENST00000445061.1_Missense_Mutation_p.I358M|DHX30_ENST00000348968.4_Missense_Mutation_p.I330M	p.I319M	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	1529	+			358					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.957A>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034785	0.35893	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03413	3.95;3.94;3.95;3.94	5.38	-6.06	0.02165	.	0.092578	0.64402	D	0.000001	T	0.01905	0.0060	N	0.25647	0.755	0.45607	D	0.99854	B;B	0.19706	0.033;0.038	B;B	0.15870	0.01;0.014	T	0.45366	-0.9266	10	0.31617	T	0.26	.	4.6495	0.12587	0.2602:0.4678:0.0712:0.2008	.	358;319	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	M	319;358;330;386	ENSP00000392601:I319M;ENSP00000405620:I358M;ENSP00000343442:I330M;ENSP00000394682:I386M	ENSP00000343442:I330M	I	+	3	3	DHX30	47862328	0.135000	0.22499	0.988000	0.46212	0.997000	0.91878	-0.892000	0.04131	-0.584000	0.05913	0.533000	0.62120	ATA		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		20	20	0	0	0	1	0	20	20					G	47887324	A	G	47887324	3	3	507	1	0	0	0	0	1	0	0	0	4504	410	15	3	1115	3	DHX30	3	47887324	Missense_Mutation	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	37470093	47887324	150135106	13	40347											
ATXN7	6314	broad.mit.edu	37	chr3	63975932	63975932	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctccacaccctccccTgcctgccactgagccagctt	6	19	1	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:63975932T>A	ENST00000295900.6	+	10	1992	c.1442T>A	c.(1441-1443)cTg>cAg	p.L481Q	ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000398590.3_Missense_Mutation_p.L481Q|ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q|ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	481	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACCCTCCCCTGCCTGCCACT	0.552																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1441-1443)cTg>cAg		ataxin 7							69	77	74					3																	63975932		2025	4183	6208	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63975932T>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1442T>A	3.37:g.63975932T>A	ENSP00000295900:p.Leu481Gln					ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q|ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000295900.6_Missense_Mutation_p.L481Q	p.L481Q	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	10	1995	+		Prostate(884;0.0181)	481			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1442T>A	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749886	0.69533	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.16457	2.34;2.35;2.35;2.34;2.36	5.91	5.91	0.95273	.	0.389813	0.26616	N	0.023395	T	0.28764	0.0713	L	0.34521	1.04	0.38122	D	0.937885	B;B;D	0.61697	0.144;0.225;0.99	B;B;P	0.59703	0.035;0.07;0.862	T	0.03750	-1.1007	10	0.51188	T	0.08	-7.079	16.3512	0.83208	0.0:0.0:0.0:1.0	.	336;481;481	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	Q	481;481;481;481;336	ENSP00000381590:L481Q;ENSP00000295900:L481Q;ENSP00000420234:L481Q;ENSP00000439585:L481Q;ENSP00000428277:L336Q	ENSP00000295900:L481Q	L	+	2	0	ATXN7	63950972	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.248000	0.51430	2.266000	0.75297	0.533000	0.62120	CTG		0.552	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		19	22	0	0	0	1	0	19	22					A	63975932	T	A	63975932	3	1	507	1	0	0	0	0	1	0	0	0	1215	1580	55	5	1540	5	ATXN7	3	63975932	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	16088608	63975932	134046498	14	40348											
PDZRN3	23024	broad.mit.edu	37	chr3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttaagagttcttggatcGtcatccagttatcgaagatt	11	6	2	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3115-3117)aCg>aTg		PDZ domain containing ring finger 3							236	246	243					3																	73432601		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432601G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3116C>T	3.37:g.73432601G>A	ENSP00000263666:p.Thr1039Met					PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M	p.T1039M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3230	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1039					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3116C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.21|15.21	2.765645|2.765645	0.49574|0.49574	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.68915	.|0.3053	M|M	0.80982|0.80982	2.52|2.52	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	.|1.0;0.998;0.999;0.997	.|T	.|0.72246	.|-0.4349	.|10	.|0.87932	.|D	.|0	.|.	19.3333|19.3333	0.94303|0.94303	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|761;756;756;1039	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	X|M	355|1039;761;696;696;756	.|ENSP00000263666:T1039M;ENSP00000442026:T761M;ENSP00000418168:T696M;ENSP00000418484:T696M;ENSP00000418624:T756M	.|ENSP00000263666:T1039M	R|T	-|-	1|2	2|0	PDZRN3|PDZRN3	73515291|73515291	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.232000|0.232000	0.25224|0.25224	9.572000|9.572000	0.98179|0.98179	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.433	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		4	204	0	0	0	1	0	4	204					A	73432601	G	A	73432601	3	1	507	1	0	0	0	0	1	0	0	0	11709	1145	40	1	88	1	PDZRN3	3	73432601	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	9456669	73432601	124589829	15	40349											
PIK3CA	5290	broad.mit.edu	37	chr3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacaaatgaatgatgcaCatcatggtggctggacaaca	10	7	1	3	rs121913281		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047Y(37)		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)	GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		37	Substitution - Missense(37)	p.H1047Y(37)	large_intestine(15)|endometrium(13)|breast(5)|ovary(3)|central_nervous_system(1)	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						c.(3139-3141)Cat>Tat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							100	89	92					3																	178952084		1912	4132	6044	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952084C>T		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.3139C>T	3.37:g.178952084C>T	ENSP00000263967:p.His1047Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3296	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3139C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173289	0.38413	.	.	ENSG00000121879	ENST00000263967	T	0.80480	-1.38	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	N	0.00265	-1.74	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56908	-0.7901	10	0.36615	T	0.2	-21.2893	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	Y	1047	ENSP00000263967:H1047Y	ENSP00000263967:H1047Y	H	+	1	0	PIK3CA	180434778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.894000	0.99253	0.591000	0.81541	CAT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			22	31	0	0	0	1	0	22	31					T	178952084	C	T	178952084	3	4	507	1	0	0	0	0	1	0	0	0	11913	478	17	2	3217	2	PIK3CA	3	178952084	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	105519483	178952084	19070346	16	40350											
LRRC33	375387	broad.mit.edu	37	chr3	196387651	196387651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccccccggagcgctcacCgagctggacctgagccacaa	12	17	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:196387651C>T	ENST00000328557.4	+	3	1340	c.1137C>T	c.(1135-1137)acC>acT	p.T379T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	379					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GAGCGCTCACCGAGCTGGACC	0.637																																						ENST00000328557.4																			0											c.(1135-1137)acC>acT		negative regulator of reactive oxygen species							55	60	58					3																	196387651		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196387651C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1137C>T	3.37:g.196387651C>T							p.T379T	NM_198565.1	NP_940967.1					3	1340	+									Silent	SNP	ENST00000328557.4	37	c.1137C>T	CCDS3319.1																																																																																				0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		30	62	0	0	0	1	0	30	62					T	196387651	C	T	196387651	2	4	507	1	0	0	0	0	0	0	0	1	8988	639	23	1		1	LRRC33	3	196387651	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	17435567	196387651	1634779	17	40351											
TEC	7006	broad.mit.edu	37	chr4	48139472	48139472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcaactagttcatcTattgtgcgcagcagatcttc	6	11	5	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:48139472T>C	ENST00000381501.3	-	18	2014	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	619	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGTTCATCTATTGTGCGCA	0.443																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1855-1857)atA>atG		tec protein tyrosine kinase							128	120	122					4																	48139472		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48139472T>C	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1857A>G	4.37:g.48139472T>C	ENSP00000370912:p.Ile619Met						p.I619M	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			18	2014	-			619			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1857A>G	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450852	0.43531	.	.	ENSG00000135605	ENST00000381501	T	0.62639	0.01	5.25	-2.45	0.06481	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.072966	0.51477	D	0.000082	T	0.61652	0.2364	L	0.42632	1.34	0.37997	D	0.934108	D	0.67145	0.996	D	0.66351	0.943	T	0.62388	-0.6865	10	0.72032	D	0.01	.	4.6604	0.12639	0.1142:0.074:0.4528:0.359	.	619	P42680	TEC_HUMAN	M	619	ENSP00000370912:I619M	ENSP00000370912:I619M	I	-	3	3	TEC	47834229	0.972000	0.33761	0.972000	0.41901	0.094000	0.18550	-0.122000	0.10627	-0.267000	0.09325	-0.438000	0.05819	ATA		0.443	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			11	26	0	0	0	1	0	11	26					C	48139472	T	C	48139472	3	2	507	1	0	0	0	0	1	0	0	0	15739	1512	53	3	42	3	TEC	4	48139472	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		48139472	143014804	18	40352											
NAA11	84779	broad.mit.edu	37	chr4	80246628	80246628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatctgcatagtatttaGgttccacctcactaatctga	5	13	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:80246628G>A	ENST00000286794.4	-	1	576	c.404C>T	c.(403-405)cCt>cTt	p.P135L	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	135	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATAGTATTTAGGTTCCACCTC	0.488																																						ENST00000286794.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(403-405)cCt>cTt		N(alpha)-acetyltransferase 11, NatA catalytic subunit							67	68	68					4																	80246628		2012	4225	6237	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246628G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.404C>T	4.37:g.80246628G>A	ENSP00000286794:p.Pro135Leu						p.P135L	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	576	-			135			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.404C>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694552	0.48202	.	.	ENSG00000156269	ENST00000286794	T	0.28255	1.62	5.17	4.32	0.51571	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.35682	0.0940	L	0.48986	1.54	0.80722	D	1	P	0.47253	0.892	P	0.47251	0.542	T	0.20974	-1.0259	10	0.62326	D	0.03	-25.9256	13.1392	0.59426	0.0:0.0:0.8388:0.1612	.	135	Q9BSU3	NAA11_HUMAN	L	135	ENSP00000286794:P135L	ENSP00000286794:P135L	P	-	2	0	NAA11	80465652	1.000000	0.71417	0.991000	0.47740	0.004000	0.04260	6.914000	0.75764	1.539000	0.49286	-0.181000	0.13052	CCT		0.488	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			22	42	0	0	0	1	0	22	42					A	80246628	G	A	80246628	3	1	507	1	0	0	0	0	1	0	0	0	10117	1000	35	2	289	2	NAA11	4	80246628	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	32107156	80246628	110907648	19	40353											
NKD2	85409	broad.mit.edu	37	chr5	1038429	1038431	+	In_Frame_Del	DEL	CAC	CAC	-													cagtgatccagcggcacgagCaccaccaccaccacgagcac					rs562708775	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:1038429_1038431delCAC	ENST00000296849.5	+	10	1526_1528	c.1297_1299delCAC	c.(1297-1299)cacdel	p.H437del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P76del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	437	His-rich.				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)			GCGGCACGAGcaccaccaccacc	0.685																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1297-1299)del		naked cuticle homolog 2 (Drosophila)				51,3471		7,37,1717						1.1	0.5			6	77,6725		5,67,3329	no	coding	NKD2	NM_033120.2		12,104,5046	A1A1,A1R,RR		1.132,1.448,1.2398				128,10196				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038429_1038431delCAC	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.1297_1299delCAC	5.37:g.1038438_1038440delCAC	ENSP00000296849:p.His437del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP72del|NKD2_ENST00000274150.4_3'UTR	p.H437del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1526_1528	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		437			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1297_1299delCAC	CCDS3859.1																																																																																				0.685	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---	-	1038431	CAC	-	1038429	7	5	507	1	0	1	0	1	0	0	0	0	10442	710	25	0	1335	0	NKD2	5	1038429	In_Frame_Del	DEL	CAC	TCGA-VW-A8FI-01A-11D-A36O-08		1038429	179876831	20	40354											
NUP155	9631	broad.mit.edu	37	chr5	37293066	37293066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggtgcagtggcttctTcattctgttccagaatggat	10	8	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:37293066T>G	ENST00000231498.3	-	34	4155	c.3952A>C	c.(3952-3954)Aag>Cag	p.K1318Q	NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q|NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1318					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGGCTTCTTCATTCTGTTC	0.299																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(3952-3954)Aag>Cag		nucleoporin 155kDa							74	85	81					5																	37293066		2203	4290	6493	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37293066T>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3952A>C	5.37:g.37293066T>G	ENSP00000231498:p.Lys1318Gln					NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q	p.K1318Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4155	-	all_lung(31;0.000137)		1318					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.3952A>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202038	0.79127	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.77750	-1.12;-1.11;-1.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	L	0.47716	1.5	0.58432	D	0.999998	D;B	0.58268	0.982;0.415	P;B	0.54060	0.741;0.131	T	0.76337	-0.2996	10	0.22706	T	0.39	.	15.4811	0.75528	0.0:0.0:0.0:1.0	.	1254;1318	E9PF10;O75694	.;NU155_HUMAN	Q	1318;1259;1280;1254	ENSP00000231498:K1318Q;ENSP00000371265:K1259Q;ENSP00000422019:K1254Q	ENSP00000231498:K1318Q	K	-	1	0	NUP155	37328823	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.978000	0.76147	2.113000	0.64589	0.477000	0.44152	AAG		0.299	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		10	101	0	0	0	1	0	10	101					G	37293066	T	G	37293066	3	3	507	1	0	0	0	0	1	0	0	0	10756	1792	62	5	231	5	NUP155	5	37293066	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	36254637	37293066	143622194	21	40355											
PCDHA5	56143	broad.mit.edu	37	chr5	140203424	140203424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgggcgctgtgggtccCgaggctgccctggtggatgt	19	11	0	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:140203424C>T	ENST00000529859.1	+	1	2064	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	688					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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGTCCCGAGGCTGCCC	0.677																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(2062-2064)ccC>ccT									49	53	52					5																	140203424		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140203424C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2064C>T	5.37:g.140203424C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P	p.P688P	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2064	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2064C>T	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		29	86	0	0	0	1	0	29	86					T	140203424	C	T	140203424	2	4	507	1	0	0	0	0	0	0	0	1	11527	639	23	1		1	PCDHA5	5	140203424	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	102910358	140203424	40711836	22	40356											
BTN3A2	11118	broad.mit.edu	37	chr6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcagaaattccctcctcGgcctggaaaagacagccagc	8	14	2	2	rs373600244	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:26370798G>A	ENST00000356386.2	+	5	870	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	228					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TTCCCTCCTCGGCCTGGAAAA	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		17048	0.0		0.001	False		,,,				2504	0.001					ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(682-684)Ggc>Agc		butyrophilin, subfamily 3, member A2		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	109	107	108		682,556,613,682,682	-2.8	0	6		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BTN3A2	NM_007047.3,NM_001197249.1,NM_001197248.1,NM_001197247.1,NM_001197246.1	56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	228/335,186/293,205/312,228/335,228/335	26370798	1,13005	2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26370798G>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.682G>A	6.37:g.26370798G>A	ENSP00000348751:p.Gly228Ser					BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S	p.G228S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			5	870	+			228					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.682G>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	6.765	0.509998	0.12883	0.0	1.16E-4	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.12255	2.7;3.44;3.44;3.44;3.44;3.44;3.44	2.16	-2.77	0.05877	Immunoglobulin-like fold (1);	.	.	.	.	T	0.03608	0.0103	L	0.50847	1.595	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.08055	0.003;0.001	T	0.41822	-0.9487	9	0.39692	T	0.17	.	6.7759	0.23619	0.4977:0.0:0.5023:0.0	.	205;228	F8W6E0;P78410	.;BT3A2_HUMAN	S	186;228;228;228;205;228;228;186	ENSP00000435952:G186S;ENSP00000432138:G228S;ENSP00000348751:G228S;ENSP00000380140:G205S;ENSP00000366937:G228S;ENSP00000380152:G228S;ENSP00000442687:G186S	ENSP00000348751:G228S	G	+	1	0	BTN3A2	26478777	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.876000	0.04201	-0.724000	0.04908	-2.079000	0.00380	GGC		0.537	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			6	86	0	0	0	1	0	6	86					A	26370798	G	A	26370798	3	1	507	1	0	0	0	0	1	0	0	0	1563	1116	39	1	692	1	BTN3A2	6	26370798	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		26370798	144744269	23	40357											
SPDEF	25803	broad.mit.edu	37	chr6	34511928	34511928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaagtccaggctgcccGctggggcttggctgtcaatg	14	13	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:34511928G>A	ENST00000374037.3	-	2	719	c.305C>T	c.(304-306)gCg>gTg	p.A102V	SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	102					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						CAGGCTGCCCGCTGGGGCTTG	0.677																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(304-306)gCg>gTg		SAM pointed domain containing ETS transcription factor							35	36	35					6																	34511928		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34511928G>A	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.305C>T	6.37:g.34511928G>A	ENSP00000363149:p.Ala102Val					SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			2	719	-			102					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.305C>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145788	0.94603	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.13778	2.56;2.77	5.12	3.3	0.37823	.	0.521672	0.17229	N	0.182010	T	0.01730	0.0055	N	0.08118	0	0.09310	N	0.999998	B;B	0.20887	0.049;0.029	B;B	0.08055	0.003;0.001	T	0.48127	-0.9062	10	0.20519	T	0.43	.	8.8822	0.35380	0.0:0.6401:0.2839:0.0759	.	102;102	F5H778;O95238	.;SPDEF_HUMAN	V	102	ENSP00000363149:A102V;ENSP00000442715:A102V	ENSP00000363149:A102V	A	-	2	0	SPDEF	34619906	0.987000	0.35691	0.939000	0.37840	0.975000	0.68041	2.151000	0.42263	0.181000	0.19994	-0.194000	0.12790	GCG		0.677	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		16	16	0	0	0	1	0	16	16					A	34511928	G	A	34511928	3	1	507	1	0	0	0	0	1	0	0	0	15025	1087	38	1	722	1	SPDEF	6	34511928	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	8141130	34511928	136603139	24	40358											
DEFB112	245915	broad.mit.edu	37	chr6	50011490	50011490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacttccacctactaaagGtgatatggtgcccttcactt	7	11	1	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:50011490G>A	ENST00000322246.4	-	2	139	c.140C>T	c.(139-141)aCc>aTc	p.T47I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	47					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTACTAAAGGTGATATGGTG	0.408																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(139-141)aCc>aTc		defensin, beta 112							155	125	135					6																	50011490		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011490G>A	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"Defensins, beta"	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.140C>T	6.37:g.50011490G>A	ENSP00000319126:p.Thr47Ile						p.T47I	NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN			2	139	-	Lung NSC(77;0.042)		47					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.140C>T	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	G	2.345	-0.350165	0.05173	.	.	ENSG00000180872	ENST00000322246	T	0.21734	1.99	3.43	-6.86	0.01676	.	3.846670	0.01111	N	0.005577	T	0.01905	0.0060	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23226	-1.0194	10	0.26408	T	0.33	3.3565	4.401	0.11386	0.2004:0.1419:0.5257:0.132	.	47	Q30KQ8	DB112_HUMAN	I	47	ENSP00000319126:T47I	ENSP00000319126:T47I	T	-	2	0	DEFB112	50119449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.530000	0.00944	-1.771000	0.01293	-0.369000	0.07265	ACC		0.408	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		5	72	0	0	0	1	0	5	72					A	50011490	G	A	50011490	3	1	507	1	0	0	0	0	1	0	0	0	4401	1261	44	2	204	2	DEFB112	6	50011490	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	15499562	50011490	121103577	25	40359											
FAM135A	57579	broad.mit.edu	37	chr6	71234964	71234964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaaagtgtctttctattgGagaatcattaactaaattac	6	6	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:71234964G>A	ENST00000418814.2	+	15	2791	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	726										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTTCTATTGGAGAATCATTA	0.318																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(2176-2178)gGa>gAa		family with sequence similarity 135, member A							47	52	50					6																	71234964		2203	4299	6502	SO:0001583	missense	57579							g.chr6:71234964G>A	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2177G>A	6.37:g.71234964G>A	ENSP00000410768:p.Gly726Glu					FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E	p.G726E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			15	2791	+			726					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.2177G>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059227	0.19987	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	6.07	5.2	0.72013	.	0.424838	0.27710	N	0.018166	T	0.18425	0.0442	L	0.39147	1.195	0.27108	N	0.962444	B;B;B;B	0.17667	0.005;0.003;0.004;0.023	B;B;B;B	0.22386	0.028;0.011;0.009;0.039	T	0.10200	-1.0640	10	0.42905	T	0.14	.	11.5833	0.50904	0.1436:0.0:0.8564:0.0	.	726;726;530;513	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	E	726;513;513;530;726	ENSP00000410768:G726E;ENSP00000359510:G513E;ENSP00000409201:G513E;ENSP00000354913:G530E;ENSP00000423307:G726E	ENSP00000354913:G530E	G	+	2	0	FAM135A	71291685	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.674000	0.37544	1.549000	0.49425	0.655000	0.94253	GGA		0.318	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		6	53	0	0	0	1	0	6	53					A	71234964	G	A	71234964	3	1	507	1	0	0	0	0	1	0	0	0	5448	1174	41	2	2305	2	FAM135A	6	71234964	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	21223474	71234964	99880103	26	40360											
THSD7A	221981	broad.mit.edu	37	chr7	11521486	11521486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgttttccctgagcagGtgtgtgagcaggaggaccac	14	10	0	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:11521486G>T	ENST00000423059.4	-	7	2197	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	649	TSP type-1 6. {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)		CCCTGAGCAGGTGTGTGAGCA	0.562										HNSCC(18;0.044)																												ENST00000423059.3																			0				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						c.(1945-1947)aCc>aAc		thrombospondin, type I, domain containing 7A							138	136	137					7																	11521486		2134	4244	6378	SO:0001583	missense	221981					integral to membrane		g.chr7:11521486G>T		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.1946C>A	7.37:g.11521486G>T	ENSP00000406482:p.Thr649Asn	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.T649N	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2197	-			649			TSP type-1 6.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1946C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336072	0.95758	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.70869	-0.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	M	0.87900	2.915	0.80722	D	1	D	0.55800	0.973	D	0.65233	0.933	D	0.86031	0.1513	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	649	Q9UPZ6	THS7A_HUMAN	N	649	ENSP00000406482:T649N	ENSP00000262042:T649N	T	-	2	0	THSD7A	11488011	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACC		0.562	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	108	1	0	1.23904e-05	1	1.25222e-05	5	108					T	11521486	G	T	11521486	3	4	507	1	0	0	0	0	1	0	0	0	15876	1261	44	4	3111	4	THSD7A	7	11521486	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		11521486	147617177	27	40361											
MPP6	51678	broad.mit.edu	37	chr7	24720070	24720070	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtatttattgcggctccGgagctagagacgttacgtgc	14	8	0	1	rs139735308		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:24720070G>A	ENST00000222644.5	+	11	1627	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	MPP6_ENST00000396475.2_Silent_p.P459P|MPP6_ENST00000409761.1_Silent_p.P347P			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCGGCTCCGGAGCTAGAGA	0.413																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(1375-1377)ccG>ccA		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		G		0,4406		0,0,2203	159	147	151		1377	-7.4	1	7	dbSNP_134	151	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MPP6	NM_016447.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		459/541	24720070	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51678				protein complex assembly		protein binding	g.chr7:24720070G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1377G>A	7.37:g.24720070G>A						MPP6_ENST00000409761.1_Silent_p.P347P|MPP6_ENST00000222644.4_Silent_p.P459P	p.P459P	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			12	1676	+			459			Guanylate kinase-like.		B2RAF0	Silent	SNP	ENST00000222644.5	37	c.1377G>A	CCDS5388.1																																																																																				0.413	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			49	118	0	0	0	1	0	49	118					A	24720070	G	A	24720070	2	1	507	1	0	0	0	0	0	0	0	1	9738	1103	39	1		1	MPP6	7	24720070	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	13198584	24720070	134418593	28	40362											
URGCP	55665	broad.mit.edu	37	chr7	43916839	43916839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggtcacagcccaggtcCtggctgaagccctcagccac	11	15	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:43916839C>T	ENST00000453200.1	-	6	2716	c.2223G>A	c.(2221-2223)caG>caA	p.Q741Q	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000336086.6_Silent_p.Q698Q			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	741	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAGGTCCTGGCTGAAGC	0.602																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2092-2094)caG>caA		upregulator of cell proliferation							40	42	41					7																	43916839		2067	4218	6285	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916839C>T		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2223G>A	7.37:g.43916839C>T						URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000453200.1_Silent_p.Q741Q	p.Q698Q			Q8TCY9	URGCP_HUMAN			4	4330	-			741					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2094G>A	CCDS47578.1																																																																																				0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		21	54	0	0	0	1	0	21	54					T	43916839	C	T	43916839	2	4	507	1	0	0	0	0	0	0	0	1	17023	680	24	2		2	URGCP	7	43916839	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	19196769	43916839	115221824	29	40363											
PCLO	27445	broad.mit.edu	37	chr7	82545708	82545708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggtggtataaactggCtgaattcagtttggggagca	14	4	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:82545708C>T	ENST00000333891.9	-	7	11931	c.11594G>A	c.(11593-11595)aGc>aAc	p.S3865N	PCLO_ENST00000437081.1_Missense_Mutation_p.S585N|PCLO_ENST00000423517.2_Missense_Mutation_p.S3865N	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						TATAAACTGGCTGAATTCAGT	0.463																																						ENST00000423517.2																			0				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						c.(11593-11595)aGc>aAc		piccolo presynaptic cytomatrix protein							457	452	454					7																	82545708		2027	4182	6209	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545708C>T	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.11594G>A	7.37:g.82545708C>T	ENSP00000334319:p.Ser3865Asn					PCLO_ENST00000437081.1_Missense_Mutation_p.S585N|PCLO_ENST00000333891.8_Missense_Mutation_p.S3865N	p.S3865N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11931	-			3796			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11594G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150279	0.06585	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.16196	2.36;2.36	5.71	1.33	0.21861	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.27258	N	0.958712	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.27872	-1.0061	9	0.87932	D	0	.	4.653	0.12605	0.0:0.438:0.1846:0.3774	.	3796;3865;3865	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	3865;3865;585	ENSP00000334319:S3865N;ENSP00000388393:S3865N	ENSP00000334319:S3865N	S	-	2	0	PCLO	82383644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.231000	0.43009	0.348000	0.23949	-0.244000	0.11960	AGC		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		104	272	0	0	0	1	0	104	272					T	82545708	C	T	82545708	3	4	507	1	0	0	0	0	1	0	0	0	11583	797	28	2	3927	2	PCLO	7	82545708	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	38628869	82545708	76592955	30	40364											
OR2A25	392138	broad.mit.edu	37	chr7	143771612	143771612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctgcatgacccagatGtttctgtttttgagttttgc	11	8	1	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:143771612G>A	ENST00000408898.2	+	1	338	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACCCAGATGTTTCTGTTTT	0.537																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(298-300)atG>atA		olfactory receptor, family 2, subfamily A, member 25							81	88	86					7																	143771612		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771612G>A		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"GPCR / Class A : Olfactory receptors"	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.300G>A	7.37:g.143771612G>A	ENSP00000386167:p.Met100Ile						p.M100I	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	338	+	Melanoma(164;0.0783)		100					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.300G>A	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107335	0.06924	.	.	ENSG00000221933	ENST00000408898	T	0.02944	4.1	4.88	-0.304	0.12788	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02767	0.0083	L	0.51914	1.62	0.20196	N	0.999928	B	0.19073	0.033	B	0.13407	0.009	T	0.45789	-0.9237	9	0.37606	T	0.19	-4.7255	1.2815	0.02042	0.135:0.3219:0.2853:0.2578	.	100	A4D2G3	O2A25_HUMAN	I	100	ENSP00000386167:M100I	ENSP00000386167:M100I	M	+	3	0	OR2A25	143402545	0.000000	0.05858	0.993000	0.49108	0.358000	0.29455	-3.521000	0.00443	-0.005000	0.14395	-0.344000	0.07964	ATG		0.537	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			44	81	0	0	0	1	0	44	81					A	143771612	G	A	143771612	3	1	507	1	0	0	0	0	1	0	0	0	10978	1377	48	2	302	2	OR2A25	7	143771612	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	61225904	143771612	15367051	31	40365											
RP1L1	94137	broad.mit.edu	37	chr8	10469466	10469466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcaggttcccagaggcCtgtgtcctggtgctcgatga	14	11	1	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:10469466C>T	ENST00000382483.3	-	4	2365	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	714					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)		TCCCAGAGGCCTGTGTCCTGG	0.612																																						ENST00000382483.3																			0				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						c.(2140-2142)caG>caA		retinitis pigmentosa 1-like 1							46	56	52					8																	10469466		2039	4177	6216	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469466C>T	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.2142G>A	8.37:g.10469466C>T							p.Q714Q	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2365	-			714					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2142G>A	CCDS43708.1																																																																																				0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			20	28	0	0	0	1	0	20	28					T	10469466	C	T	10469466	2	4	507	1	0	0	0	0	0	0	0	1	13533	680	24	2		2	RP1L1	8	10469466	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		10469466	135894556	32	40366											
GSDMC	56169	broad.mit.edu	37	chr8	130789815	130789815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaaatttttgctaatgcGttccaacatggagggcatgt	10	8	0	0	rs369692449		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:130789815G>A	ENST00000276708.4	-	2	900	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	7						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						TTGCTAATGCGTTCCAACATG	0.408																																						ENST00000276708.4																			0				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						c.(19-21)Cgc>Tgc		gasdermin C		G	CYS/ARG	0,4406		0,0,2203	136	124	128		19	-6.6	0	8		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	GSDMC	NM_031415.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	7/509	130789815	1,13005	2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789815G>A	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.19C>T	8.37:g.130789815G>A	ENSP00000276708:p.Arg7Cys						p.R7C	NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN			2	900	-			7					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.19C>T	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	9.635	1.137332	0.21123	0.0	1.16E-4	ENSG00000147697	ENST00000276708	T	0.26373	1.74	4.01	-6.58	0.01836	.	4.045600	0.00397	N	0.000046	T	0.13372	0.0324	N	0.21282	0.65	0.09310	N	1	B	0.31351	0.32	B	0.23716	0.048	T	0.08911	-1.0699	10	0.44086	T	0.13	.	3.6491	0.08196	0.0859:0.2014:0.4419:0.2708	.	7	Q9BYG8	GSDMC_HUMAN	C	7	ENSP00000276708:R7C	ENSP00000276708:R7C	R	-	1	0	GSDMC	130858997	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.896000	0.00706	-1.665000	0.01477	-0.424000	0.05967	CGC		0.408	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			28	47	0	0	0	1	0	28	47					A	130789815	G	A	130789815	3	1	507	1	0	0	0	0	1	0	0	0	6818	1145	40	1	1559	1	GSDMC	8	130789815	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	120320349	130789815	15574207	33	40367											
NFKBIL2	4796	broad.mit.edu	37	chr8	145667765	145667765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaggttgtagcgggcGcggaataggtcctcgtaaag	16	9	0	0	rs569775648	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:145667765G>A	ENST00000409379.3	-	6	638	c.609C>T	c.(607-609)cgC>cgT	p.R203R	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	203					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGTAGCGGGCGCGGAATAGGT	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		15572	0.0		0.0	False		,,,				2504	0.002					ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(607-609)cgC>cgT		tonsoku-like, DNA repair protein							42	40	41					8																	145667765		2200	4299	6499	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145667765G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.609C>T	8.37:g.145667765G>A							p.R203R	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			6	638	-			203					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.609C>T	CCDS34968.2																																																																																				0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		21	31	0	0	0	1	0	21	31					A	145667765	G	A	145667765	2	1	507	1	0	0	0	0	0	0	0	1	10382	1074	38	1		1	NFKBIL2	8	145667765	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	14877950	145667765	696257	34	40368											
CDC14B	8555	broad.mit.edu	37	chr9	99284801	99284801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcacgtgagaggaatagCgtttgttttggattgtcttc	12	6	2	1	rs371730723		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:99284801C>T	ENST00000375241.1	-	12	1781	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T|CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T|CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	444					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)				AGAGGAATAGCGTTTGTTTTG	0.423																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(1330-1332)Gct>Act		cell division cycle 14B		C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	252	179	204		1219,1330,1330	-0.5	0	9		204	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC14B	NM_001077181.1,NM_003671.3,NM_033331.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	407/462,444/460,444/499	99284801	1,13005	2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99284801C>T	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.1330G>A	9.37:g.99284801C>T	ENSP00000364389:p.Ala444Thr					CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T	p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			12	1781	-		Acute lymphoblastic leukemia(62;0.0559)	444					A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.1330G>A	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202232	0.22121	0.0	1.16E-4	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	D;D;D;D;D;D	0.92348	-3.01;-2.94;-3.0;-2.92;-3.02;-3.02	5.13	-0.466	0.12153	.	0.381500	0.28448	N	0.015314	T	0.69958	0.3169	N	0.00771	-1.2	0.09310	N	1	B;B;B	0.20988	0.002;0.004;0.05	B;B;B	0.18263	0.002;0.003;0.021	T	0.65717	-0.6100	10	0.18710	T	0.47	-20.7101	5.9798	0.19401	0.2957:0.5156:0.0:0.1887	.	444;444;407	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	T	444;444;444;407;444;444	ENSP00000265659:A444T;ENSP00000364389:A444T;ENSP00000364388:A444T;ENSP00000364390:A407T;ENSP00000420572:A444T;ENSP00000364384:A444T	ENSP00000265659:A444T	A	-	1	0	CDC14B	98324622	0.000000	0.05858	0.001000	0.08648	0.953000	0.61014	-0.862000	0.04263	0.091000	0.17302	0.650000	0.86243	GCT		0.423	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		28	41	0	0	0	1	0	28	41					T	99284801	C	T	99284801	3	4	507	1	0	0	0	0	1	0	0	0	3057	768	27	1	178	1	CDC14B	9	99284801	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		99284801	41928630	35	40369											
SURF2	6835	broad.mit.edu	37	chr9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttcaagagtcatcaccGcaaacccaagagcttcagct	8	12	4	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	244						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(730-732)cGc>cAc		surfeit 2							166	169	168					9																	136227975		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227975G>A		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.731G>A	9.37:g.136227975G>A	ENSP00000361032:p.Arg244His						p.R244H	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	6	772	+			244					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.731G>A	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	0.927	-0.713895	0.03206	.	.	ENSG00000148291	ENST00000371964	T	0.29917	1.55	5.15	0.0952	0.14484	.	0.911277	0.09659	N	0.772669	T	0.18173	0.0436	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.17722	0.019	T	0.35674	-0.9779	10	0.12103	T	0.63	-18.6517	9.3417	0.38085	0.4709:0.0:0.5291:0.0	.	244	Q15527	SURF2_HUMAN	H	244	ENSP00000361032:R244H	ENSP00000361032:R244H	R	+	2	0	SURF2	135217796	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	0.233000	0.17911	-0.274000	0.09232	0.561000	0.74099	CGC		0.463	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		4	185	0	0	0	1	0	4	185					A	136227975	G	A	136227975	3	1	507	1	0	0	0	0	1	0	0	0	15401	1087	38	1	753	1	SURF2	9	136227975	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	36943174	136227975	4985456	36	40370											
CUBN	8029	broad.mit.edu	37	chr10	16957131	16957131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctagaagtgtctatgctGtcaggaatggtgtttccaca	11	7	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:16957131G>T	ENST00000377833.4	-	47	7316	c.7251C>A	c.(7249-7251)gaC>gaA	p.D2417E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2417	CUB 17. {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)	TGTCTATGCTGTCAGGAATGG	0.428																																						ENST00000377833.4																			0				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						c.(7249-7251)gaC>gaA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						118	104	109					10																	16957131		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957131G>T	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.7251C>A	10.37:g.16957131G>T	ENSP00000367064:p.Asp2417Glu						p.D2417E	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			47	7316	-			2417			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7251C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388959	0.04932	.	.	ENSG00000107611	ENST00000377833	T	0.16457	2.34	5.01	-0.769	0.11009	CUB (5);	1.421110	0.04588	N	0.396181	T	0.08223	0.0205	N	0.21097	0.63	0.09310	N	1	B	0.24675	0.109	B	0.23852	0.049	T	0.20538	-1.0272	10	0.02654	T	1	.	0.9932	0.01461	0.1931:0.2573:0.3132:0.2365	.	2417	O60494	CUBN_HUMAN	E	2417	ENSP00000367064:D2417E	ENSP00000367064:D2417E	D	-	3	2	CUBN	16997137	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-0.039000	0.12124	0.113000	0.18004	0.585000	0.79938	GAC		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		31	11	1	0	2.47316e-13	1	2.70057e-13	31	11					T	16957131	G	T	16957131	3	4	507	1	0	0	0	0	1	0	0	0	4051	1368	48	4	3704	4	CUBN	10	16957131	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		16957131	118577616	37	40371											
NEBL	10529	broad.mit.edu	37	chr10	21462709	21462709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcaccttatccaggcagttGactttctcggtgggatacac	9	12	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:21462709G>A	ENST00000417816.2	-	1	407	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NEBL_ENST00000464278.1_5'UTR|NEBL-AS1_ENST00000439097.1_RNA|NEBL-AS1_ENST00000417845.1_RNA	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGGCAGTTGACTTTCTCGG	0.677																																						ENST00000417816.2																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(52-54)gtC>gtT		nebulette							51	50	50					10																	21462709		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21462709G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.54C>T	10.37:g.21462709G>A						NEBL_ENST00000464278.1_5'UTR	p.V18V	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN			1	407	-			0					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000417816.2	37	c.54C>T	CCDS7133.1																																																																																				0.677	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		15	13	0	0	0	1	0	15	13					A	21462709	G	A	21462709	2	1	507	1	0	0	0	0	0	0	0	1	10303	1277	45	2		2	NEBL	10	21462709	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	4505578	21462709	114072038	38	40372											
CRTAC1	55118	broad.mit.edu	37	chr10	99640052	99640052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgtagccccgactgcaCttcttgttggtccggcacct	11	15	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:99640052C>T	ENST00000370597.3	-	14	2128	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K	CRTAC1_ENST00000298819.4_Missense_Mutation_p.S577N|CRTAC1_ENST00000370591.2_Silent_p.K591K|CRTAC1_ENST00000468549.1_5'Flank	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	591	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGACTGCACTTCTTGTTGG	0.572																																						ENST00000298819.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1729-1731)aGt>aAt		cartilage acidic protein 1							139	114	123					10																	99640052		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99640052C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1773G>A	10.37:g.99640052C>T						CRTAC1_ENST00000370597.3_Silent_p.K591K|CRTAC1_ENST00000370591.2_Silent_p.K591K	p.S577N			Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	13	2085	-		Colorectal(252;0.24)	0			EGF-like.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1730G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630252	0.28978	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35605	1.3;1.33	4.39	-2.42	0.06542	.	.	.	.	.	T	0.23410	0.0566	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.04005	-1.0985	8	0.45353	T	0.12	-7.641	6.9536	0.24558	0.0:0.3712:0.12:0.5088	.	473	Q5T4F6	.	N	473;577	ENSP00000408445:S473N;ENSP00000298819:S577N	ENSP00000298819:S577N	S	-	2	0	CRTAC1	99630042	1.000000	0.71417	0.923000	0.36655	0.980000	0.70556	0.706000	0.25690	-0.396000	0.07703	0.448000	0.29417	AGT		0.572	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		34	18	0	0	0	1	0	34	18					T	99640052	C	T	99640052	2	4	507	1	0	0	0	0	0	0	0	1	3896	564	20	2		2	CRTAC1	10	99640052	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	78177343	99640052	35894695	39	40373											
C10orf76	79591	broad.mit.edu	37	chr10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattctatgtaagtttactcGaaaattcatgttgtcatcat	5	7	4	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313																																						ENST00000370033.4																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(1255-1257)Cga>Tga		chromosome 10 open reading frame 76							105	98	100					10																	103753315		1815	4071	5886	SO:0001587	stop_gained	79591					integral to membrane		g.chr10:103753315G>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1255C>T	10.37:g.103753315G>A	ENSP00000359050:p.Arg419*						p.R419*	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	17	1374	-		Colorectal(252;0.123)	419					Q2TB87|Q9H8Z9	Nonsense_Mutation	SNP	ENST00000370033.4	37	c.1255C>T	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	G	36	5.971913	0.97162	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.75	4.85	0.62838	.	0.055918	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9236	14.7233	0.69323	0.0694:0.0:0.9306:0.0	.	.	.	.	X	419	.	ENSP00000359050:R419X	R	-	1	2	C10orf76	103743305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.986000	0.70563	1.445000	0.47624	0.491000	0.48974	CGA		0.313	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		17	11	0	0	0	1	0	17	11					A	103753315	G	A	103753315	4	1	507	1	0	0	0	0	0	1	0	0	1616	1066	37	1	854	1	C10orf76	10	103753315	Nonsense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	4113263	103753315	31781432	40	40374											
TRPM5	29850	broad.mit.edu	37	chr11	2432644	2432644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccggtagagcacccggCggaagatccactccaggcgg	16	13	0	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:2432644C>T	ENST00000155858.6	-	18	2728	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H	TRPM5_ENST00000452833.1_Missense_Mutation_p.R909H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H	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)		GAGCACCCGGCGGAAGATCCA	0.627																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2725-2727)cGc>cAc		transient receptor potential cation channel, subfamily M, member 5							32	35	34					11																	2432644		2199	4297	6496	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432644C>T	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.2720G>A	11.37:g.2432644C>T	ENSP00000155858:p.Arg907His					TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H|TRPM5_ENST00000155858.6_Missense_Mutation_p.R907H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H	p.R909H			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2734	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	907						Missense_Mutation	SNP	ENST00000155858.6	37	c.2726G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770979	0.90108	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	3.89	3.89	0.44902	Ion transport (1);	0.136471	0.48286	D	0.000186	D	0.84515	0.5489	M	0.84219	2.685	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	0.87720	0.2572	10	0.87932	D	0	-27.2321	15.2605	0.73617	0.0:1.0:0.0:0.0	.	907;909;907	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	901;907;909;907;907	ENSP00000434383:R901H;ENSP00000155858:R907H;ENSP00000387965:R909H;ENSP00000434121:R907H;ENSP00000436809:R907H	ENSP00000155858:R907H	R	-	2	0	TRPM5	2389220	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	7.407000	0.80029	1.928000	0.55862	0.561000	0.74099	CGC		0.627	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		4	40	0	0	0	1	0	4	40					T	2432644	C	T	2432644	3	4	507	1	0	0	0	0	1	0	0	0	16586	768	27	1	805	1	TRPM5	11	2432644	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		2432644	132573872	41	40375											
MRGPRE	116534	broad.mit.edu	37	chr11	3249242	3249242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagacgacgggcttggccGcgcagtgcacggcggccatg	17	12	0	1	rs555203753	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:3249242G>A	ENST00000389832.5	-	2	1094	c.788C>T	c.(787-789)gCg>gTg	p.A263V	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGGCCGCGCAGTGCAC	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		14988	0.0		0.0	False		,,,				2504	0.002					ENST00000389832.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(787-789)gCg>gTg		MAS-related GPR, member E							13	19	17					11																	3249242		1905	4101	6006	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249242G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"GPCR / Class A : Orphans"	30694	protein-coding gene	gene with protein product		607232	"G protein-coupled receptor 167"	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.788C>T	11.37:g.3249242G>A	ENSP00000374482:p.Ala263Val					AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V	p.A263V			Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1094	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	262					Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.788C>T		.	.	.	.	.	.	.	.	.	.	g	12.76	2.035104	0.35893	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.35605	1.3	3.6	-3.58	0.04597	GPCR, rhodopsin-like superfamily (1);	1.222060	0.06421	U	0.722385	T	0.23094	0.0558	L	0.36672	1.1	0.09310	N	1	P	0.46578	0.88	B	0.32677	0.15	T	0.36817	-0.9732	10	0.45353	T	0.12	-5.5822	11.4443	0.50114	0.0957:0.6904:0.2139:0.0	.	262	Q86SM8	MRGRE_HUMAN	V	263;262	ENSP00000393251:A263V	ENSP00000374482:A262V	A	-	2	0	MRGPRE	3205818	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.004000	0.12878	-0.492000	0.06687	0.462000	0.41574	GCG		0.672	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		6	9	0	0	0	1	0	6	9					A	3249242	G	A	3249242	3	1	507	1	0	0	0	0	1	0	0	0	9764	1087	38	1	154	1	MRGPRE	11	3249242	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	816598	3249242	131757274	42	40376											
TRIM5	85363	broad.mit.edu	37	chr11	5686810	5686810	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatgagcctaatagagaaCataaaattctaaaagataaa	5	5	1	3	rs575235627		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:5686810C>A	ENST00000380034.3	-	7	1152				TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_Missense_Mutation_p.C324F|TRIM5_ENST00000396853.4_Intron	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)		TAATAGAGAACATAAAATTCT	0.373											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000396847.3																			0				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						c.(970-972)tGt>tTt		tripartite motif containing 5							56	60	59					11																	5686810		2199	4295	6494	SO:0001627	intron_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686810C>A	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.895+75G>T	11.37:g.5686810C>A			OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Intron	p.C324F			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	7	1206	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	0			B30.2/SPRY.		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	ENST00000380034.3	37	c.971G>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661902	0.14645	.	.	ENSG00000132256	ENST00000396847	T	0.66995	-0.24	3.55	-7.09	0.01553	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	8	0.11182	T	0.66	.	4.9444	0.13982	0.3353:0.1414:0.0:0.5233	.	324	Q9C035-3	.	F	324	ENSP00000380058:C324F	ENSP00000380058:C324F	C	-	2	0	TRIM5	5643386	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.646000	0.01998	-1.794000	0.01256	-0.362000	0.07510	TGT		0.373	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		20	43	1	0	2.94398e-08	1	3.10754e-08	20	43					A	5686810	C	A	5686810	1	1	507	0	1	0	0	0	0	0	0	0	16522	478	17	4		4	TRIM5	11	5686810	Intron	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	2437568	5686810	129319706	43	40377											
OR4D9	390199	broad.mit.edu	37	chr11	59283161	59283161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcatctatgtctatgCccggcccttcactgccctcc	7	19	3	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:59283161C>T	ENST00000329328.3	+	1	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	259						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(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TATGTCTATGCCCGGCCCTTC	0.552																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(775-777)gCc>gTc		olfactory receptor, family 4, subfamily D, member 9							241	215	224					11																	59283161		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283161C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.776C>T	11.37:g.59283161C>T	ENSP00000328563:p.Ala259Val						p.A259V	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	776	+			259					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.776C>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871573	0.51695	.	.	ENSG00000172742	ENST00000329328	T	0.35789	1.29	4.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	U	0.000871	T	0.16811	0.0404	N	0.02865	-0.47	0.21147	N	0.999772	P	0.34997	0.479	P	0.46452	0.517	T	0.45469	-0.9259	10	0.05436	T	0.98	-14.4267	4.8868	0.13706	0.3564:0.539:0.0:0.1045	.	259	Q8NGE8	OR4D9_HUMAN	V	259	ENSP00000328563:A259V	ENSP00000328563:A259V	A	+	2	0	OR4D9	59039737	0.000000	0.05858	0.998000	0.56505	0.982000	0.71751	-0.504000	0.06375	2.062000	0.61559	0.563000	0.77884	GCC		0.552	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		88	104	0	0	0	1	0	88	104					T	59283161	C	T	59283161	3	4	507	1	0	0	0	0	1	0	0	0	11059	739	26	2	778	2	OR4D9	11	59283161	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	53596351	59283161	75723355	44	40378											
GYS2	2998	broad.mit.edu	37	chr12	21728850	21728850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatcagcatatcattggCttctcggtcatgataaggaa	8	7	4	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:21728850C>T	ENST00000261195.2	-	3	699	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	149					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATCATTGGCTTCTCGGTCA	0.438																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(445-447)Gcc>Acc		glycogen synthase 2 (liver)							141	131	134					12																	21728850		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21728850C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.445G>A	12.37:g.21728850C>T	ENSP00000261195:p.Ala149Thr						p.A149T	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			3	699	-			149					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.445G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872416	0.33069	.	.	ENSG00000111713	ENST00000261195	T	0.62639	0.01	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	N	0.05199	-0.095	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.51529	-0.8694	10	0.02654	T	1	-19.87	18.9212	0.92526	0.0:1.0:0.0:0.0	.	149	P54840	GYS2_HUMAN	T	149	ENSP00000261195:A149T	ENSP00000261195:A149T	A	-	1	0	GYS2	21620117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.451000	0.66632	2.781000	0.95711	0.650000	0.86243	GCC		0.438	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		45	51	0	0	0	1	0	45	51					T	21728850	C	T	21728850	3	4	507	1	0	0	0	0	1	0	0	0	6913	797	28	2	1722	2	GYS2	12	21728850	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		21728850	112123045	45	40379											
HDAC7	51564	broad.mit.edu	37	chr12	48196010	48196010	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtttgactcttacctgCgccagtggggctgcagtagt	14	11	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:48196010C>T	ENST00000427332.2	-	0	106				HDAC7_ENST00000080059.7_Missense_Mutation_p.A23T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000552960.1_Intron			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|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)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(67-69)Gca>Aca		histone deacetylase 7							41	42	42					12																	48196010		1885	4110	5995	SO:0001623	5_prime_UTR_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48196010C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.-51G>A	12.37:g.48196010C>T			OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T	p.A23T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	2	66	-			207			Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	C	5.673	0.308718	0.10733	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000380610;ENST00000430670	T;T;T;T	0.56275	0.53;0.6;0.47;1.0	5.34	-0.178	0.13303	.	1.715750	0.03877	N	0.276633	T	0.30262	0.0759	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20505	-1.0273	10	0.27785	T	0.31	.	4.6103	0.12399	0.0:0.1729:0.3144:0.5127	.	23;23	Q8WUI4-5;Q8WUI4-7	.;.	T	23;23;40;23	ENSP00000080059:A23T;ENSP00000351326:A23T;ENSP00000369984:A40T;ENSP00000396159:A23T	ENSP00000080059:A23T	A	-	1	0	HDAC7	46482277	1.000000	0.71417	0.971000	0.41717	0.889000	0.51656	0.296000	0.19083	0.077000	0.16863	-0.295000	0.09555	GCA		0.602	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			6	18	0	0	0	1	0	6	18					T	48196010	C	T	48196010	1	4	507	0	1	0	0	0	0	0	0	0	7012	768	27	1		1	HDAC7	12	48196010	5'UTR	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	26467160	48196010	85655885	46	40380											
MYF6	4618	broad.mit.edu	37	chr12	81101548	81101548	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcttctacttggatgGggaaaatgttactctgcagc	9	8	3	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:81101548G>C	ENST00000228641.3	+	1	272	c.50G>C	c.(49-51)gGg>gCg	p.G17A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	17					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						TACTTGGATGGGGAAAATGTT	0.498																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(49-51)gGg>gCg		myogenic factor 6 (herculin)							100	106	104					12																	81101548		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101548G>C		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.50G>C	12.37:g.81101548G>C	ENSP00000228641:p.Gly17Ala						p.G17A	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	272	+			17					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.50G>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537345	0.65085	.	.	ENSG00000111046	ENST00000228641	T	0.77358	-1.09	5.62	5.62	0.85841	Myogenic basic muscle-specific protein (2);	0.046876	0.85682	D	0.000000	D	0.84674	0.5524	M	0.71581	2.175	0.80722	D	1	D	0.56035	0.974	P	0.53912	0.737	D	0.84040	0.0364	10	0.42905	T	0.14	.	19.6517	0.95819	0.0:0.0:1.0:0.0	.	17	P23409	MYF6_HUMAN	A	17	ENSP00000228641:G17A	ENSP00000228641:G17A	G	+	2	0	MYF6	79625679	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.939000	0.75911	2.662000	0.90505	0.655000	0.94253	GGG		0.498	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		18	51	0	0	0	1	0	18	51					C	81101548	G	C	81101548	3	2	507	1	0	0	0	0	1	0	0	0	10028	1232	43	4	52	4	MYF6	12	81101548	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	32905538	81101548	52750347	47	40381											
CHST11	50515	broad.mit.edu	37	chr12	105151445	105151445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacctatgcaaagtctaCgagaactactgatgaaatga	7	11	1	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:105151445C>T	ENST00000303694.5	+	3	1362	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	308					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAAGTCTACGAGAACTACT	0.473																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(922-924)aCg>aTg		carbohydrate (chondroitin 4) sulfotransferase 11							79	73	75					12																	105151445		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151445C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.923C>T	12.37:g.105151445C>T	ENSP00000305725:p.Thr308Met					CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	p.T308M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1362	+			308					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.923C>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584345	0.65992	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.74315	-0.83;-0.83	5.25	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.82716	2.605	0.80722	D	1	D;P	0.55385	0.971;0.95	P;P	0.50405	0.507;0.64	D	0.83452	0.0049	10	0.48119	T	0.1	-23.5302	14.8824	0.70542	0.1447:0.8553:0.0:0.0	.	303;308	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	M	303;308	ENSP00000450004:T303M;ENSP00000305725:T308M	ENSP00000305725:T308M	T	+	2	0	CHST11	103675575	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.818000	0.86416	1.168000	0.42723	0.555000	0.69702	ACG		0.473	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		14	22	0	0	0	1	0	14	22					T	105151445	C	T	105151445	3	4	507	1	0	0	0	0	1	0	0	0	3399	536	19	1	933	1	CHST11	12	105151445	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	24049897	105151445	28700450	48	40382											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	15	6	0	2	rs121918454		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		A -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.|A -> S (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|A -> T (in JMML). {ECO:0000269|PubMed:12717436}.|A -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		38	Substitution - Missense(38)	p.A72V(35)|p.A72D(3)	haematopoietic_and_lymphoid_tissue(38)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451	GRCh37	CM013417	PTPN11	M	rs121918454	c.(214-216)gCc>gAc		protein tyrosine phosphatase, non-receptor type 11							154	142	146					12																	112888199		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112888199C>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.215C>A	12.37:g.112888199C>A	ENSP00000340944:p.Ala72Asp					PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			3	413	+			72		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).	SH2 1.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.215C>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940643	0.92526	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96073	-3.9;-3.9	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	L	0.33624	1.015	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71184	0.938;0.972	D	0.96297	0.9218	10	0.62326	D	0.03	.	14.8021	0.69924	0.0:0.9312:0.0:0.0688	.	72;72	Q06124-2;Q06124-3	.;.	D	72	ENSP00000376376:A72D;ENSP00000340944:A72D	ENSP00000340944:A72D	A	+	2	0	PTPN11	111372582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	1.496000	0.48567	0.650000	0.86243	GCC		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			5	97	1	0	1.23904e-05	1	1.25222e-05	5	97					A	112888199	C	A	112888199	3	1	507	1	0	0	0	0	1	0	0	0	12780	739	26	4	225	4	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	7736754	112888199	20963696	49	40383											
TMEM132D	121256	broad.mit.edu	37	chr12	129566495	129566495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaactgcgtcaggacccGcaccatggcgtgctggtact	11	14	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:129566495G>A	ENST00000422113.2	-	7	2058	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	578					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R578W(2)		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)		GTCAGGACCCGCACCATGGCG	0.652																																						ENST00000422113.2																			2	Substitution - Missense(2)	p.R578W(2)	large_intestine(2)	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						c.(1732-1734)Cgg>Tgg		transmembrane protein 132D							45	47	47					12																	129566495		2203	4299	6502	SO:0001583	missense	121256					integral to membrane		g.chr12:129566495G>A	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.1732C>T	12.37:g.129566495G>A	ENSP00000408581:p.Arg578Trp					TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	p.R578W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2058	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	578					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1732C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787869	0.70337	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.55588	0.51;0.51	4.72	3.76	0.43208	.	0.101204	0.42964	D	0.000622	T	0.74741	0.3756	M	0.88105	2.93	0.44619	D	0.997599	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	T	0.79671	-0.1706	9	.	.	.	-44.7815	12.9732	0.58524	0.0:0.0:0.7201:0.2798	.	578;116	Q14C87;Q14C87-2	T132D_HUMAN;.	W	116;578	ENSP00000374092:R116W;ENSP00000408581:R578W	.	R	-	1	2	TMEM132D	128132448	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.775000	0.47702	2.149000	0.67028	0.561000	0.74099	CGG		0.652	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		30	33	0	0	0	1	0	30	33					A	129566495	G	A	129566495	3	1	507	1	0	0	0	0	1	0	0	0	16044	1086	38	1	1579	1	TMEM132D	12	129566495	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	16678296	129566495	4285400	50	40384											
FRY	10129	broad.mit.edu	37	chr13	32653043	32653043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcacagggagaaagggcCgccaaccatgctacccatca	10	15	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr13:32653043C>T	ENST00000380250.3	+	2	639	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	48						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)		GAGAAAGGGCCGCCAACCATG	0.502																																						ENST00000380250.3																			0				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						c.(142-144)cCg>cTg		furry homolog (Drosophila)							228	231	230					13																	32653043		1977	4157	6134	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32653043C>T	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.143C>T	13.37:g.32653043C>T	ENSP00000369600:p.Pro48Leu						p.P48L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		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)	2	639	+		Lung SC(185;0.0271)	48					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.143C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139393	0.94560	.	.	ENSG00000073910	ENST00000380250;ENST00000436046	T	0.22945	1.93	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.65975	2.015	0.80722	D	1	B	0.28636	0.218	B	0.12837	0.008	T	0.06162	-1.0842	10	0.54805	T	0.06	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	48	Q5TBA9	FRY_HUMAN	L	48;45	ENSP00000369600:P48L	ENSP00000369600:P48L	P	+	2	0	FRY	31551043	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	7.207000	0.77899	2.770000	0.95276	0.655000	0.94253	CCG		0.502	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		94	147	0	0	0	1	0	94	147					T	32653043	C	T	32653043	3	4	507	1	0	0	0	0	1	0	0	0	6063	652	23	1	149	1	FRY	13	32653043	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		32653043	82516835	51	40385											
ZFYVE26	23503	broad.mit.edu	37	chr14	68265336	68265336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgagaagagatttgcaGcacctacaaaaacatgtaca	8	7	0	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:68265336G>A	ENST00000347230.4	-	11	1781	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	548					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)		GAGATTTGCAGCACCTACAAA	0.443																																						ENST00000347230.4																			0				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						c.(1642-1644)gCt>gTt		zinc finger, FYVE domain containing 26							43	40	41					14																	68265336		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68265336G>A	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.1643C>T	14.37:g.68265336G>A	ENSP00000251119:p.Ala548Val					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	11	1781	-			548					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.1643C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	6.523	0.464648	0.12402	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26957	1.84;1.7	6.06	6.06	0.98353	.	0.392036	0.27677	N	0.018313	T	0.38665	0.1049	L	0.56769	1.78	0.32910	D	0.514396	D;D;B	0.65815	0.995;0.975;0.006	P;P;B	0.56163	0.793;0.644;0.005	T	0.49312	-0.8953	10	0.39692	T	0.17	-11.6475	11.3854	0.49782	0.0813:0.0:0.9187:0.0	.	548;548;548	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	548;527;548	ENSP00000251119:A548V;ENSP00000450603:A548V	ENSP00000251119:A548V	A	-	2	0	ZFYVE26	67335089	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.421000	0.59848	2.882000	0.98803	0.655000	0.94253	GCT		0.443	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		14	23	0	0	0	1	0	14	23					A	68265336	G	A	68265336	3	1	507	1	0	0	0	0	1	0	0	0	17665	971	34	2	6104	2	ZFYVE26	14	68265336	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		68265336	39084204	52	40386											
MAP3K9	4293	broad.mit.edu	37	chr14	71227862	71227862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcttcagaatcttgttGctcaggtctccattctccac	7	12	6	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:71227862G>T	ENST00000554752.2	-	3	857	c.858C>A	c.(856-858)agC>agA	p.S286R	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	286	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)		GAATCTTGTTGCTCAGGTCTC	0.493																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				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						c.(856-858)agC>agA		mitogen-activated protein kinase kinase kinase 9							115	103	107					14																	71227862		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71227862G>T	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.858C>A	14.37:g.71227862G>T	ENSP00000451612:p.Ser286Arg					MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R	p.S286R			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	3	857	-			286			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.858C>A		.	.	.	.	.	.	.	.	.	.	G	18.42	3.620659	0.66787	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250;ENST00000554146;ENST00000542284	D;D;T	0.89617	-2.54;-2.54;-0.88	5.13	2.24	0.28232	Serine/threonine-protein kinase-like domain (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	0.82522	0.5055	L	0.41079	1.255	0.42978	D	0.994452	B;B;B	0.30179	0.271;0.068;0.055	B;B;B	0.35859	0.212;0.145;0.089	T	0.72978	-0.4127	10	0.19147	T	0.46	.	8.4193	0.32690	0.3098:0.0:0.6902:0.0	.	23;286;286	G3V4P9;P80192;P80192-4	.;M3K9_HUMAN;.	R	286;286;286;23;14	ENSP00000451612:S286R;ENSP00000370649:S286R;ENSP00000451921:S23R	ENSP00000005198:S286R	S	-	3	2	MAP3K9	70297615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.191000	0.32138	0.738000	0.32606	0.455000	0.32223	AGC		0.493	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			15	13	1	0	7.93312e-07	1	8.19181e-07	15	13					T	71227862	G	T	71227862	3	4	507	1	0	0	0	0	1	0	0	0	9257	1310	46	4	2542	4	MAP3K9	14	71227862	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	2962526	71227862	36121678	53	40387											
KIAA0317	9870	broad.mit.edu	37	chr14	75151317	75151317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaggaagctgactacaCgtgcggcaagctcaaagagg	14	9	2	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:75151317C>T	ENST00000356357.4	-	4	598	c.83G>A	c.(82-84)cGt>cAt	p.R28H	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	28					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)										GCTGACTACACGTGCGGCAAG	0.517																																						ENST00000356357.4																			0											c.(82-84)cGt>cAt		apoptosis resistant E3 ubiquitin protein ligase 1							52	52	52					14																	75151317		1984	4172	6156	SO:0001583	missense	9870							g.chr14:75151317C>T	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.83G>A	14.37:g.75151317C>T	ENSP00000348714:p.Arg28His					AREL1_ENST00000557401.1_5'UTR	p.R28H	NM_001039479.1	NP_001034568.1					4	598	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.83G>A	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366322	0.95900	.	.	ENSG00000119682	ENST00000356357;ENST00000555249	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.964	T	0.58885	-0.7557	10	0.42905	T	0.14	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	28;28	O15033-2;O15033	.;K0317_HUMAN	H	28	ENSP00000348714:R28H;ENSP00000450458:R28H	ENSP00000348714:R28H	R	-	2	0	KIAA0317	74221070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.730000	0.93505	0.655000	0.94253	CGT		0.517	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		23	22	0	0	0	1	0	23	22					T	75151317	C	T	75151317	3	4	507	1	0	0	0	0	1	0	0	0	8167	536	19	1	2456	1	KIAA0317	14	75151317	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	3923455	75151317	32198223	54	40388											
NLRC5	84166	broad.mit.edu	37	chr16	57054711	57054711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagacccagaatggctgaaCgccaagatgaagttcttcct	9	10	1	5	rs200713636	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:57054711C>T	ENST00000262510.6	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000436936.1_Silent_p.N29N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					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)				AATGGCTGAACGCCAAGATGA	0.562													C|||	4	0.000798722	0.0	0.0	5008	,	,		14507	0.0		0.001	False		,,,				2504	0.0031					ENST00000436936.1																			0				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						c.(85-87)aaC>aaT		NLR family, CARD domain containing 5							98	87	91					16																	57054711		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57054711C>T	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.87C>T	16.37:g.57054711C>T						NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000262510.6_Silent_p.N29N	p.N29N			Q86WI3	NLRC5_HUMAN			3	312	+		all_neural(199;0.225)	29					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.87C>T	CCDS10773.1																																																																																				0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	44	0	0	0	1	0	4	44					T	57054711	C	T	57054711	2	4	507	1	0	0	0	0	0	0	0	1	10470	535	19	1		1	NLRC5	16	57054711	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		57054711	33300042	55	40389											
HYDIN	54768	broad.mit.edu	37	chr16	71007758	71007758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggcttttggctctggaCgaaccattcacaagggactt	10	10	2	0	rs532099780	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:71007758C>T	ENST00000393567.2	-	34	5353	c.5203G>A	c.(5203-5205)Gtc>Atc	p.V1735I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1735					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)				TGGCTCTGGACGAACCATTCA	0.483													C|||	3	0.000599042	0.0023	0.0	5008	,	,		31231	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			0				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						c.(5203-5205)Gtc>Atc		HYDIN, axonemal central pair apparatus protein																																				SO:0001583	missense	54768							g.chr16:71007758C>T	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.5203G>A	16.37:g.71007758C>T	ENSP00000377197:p.Val1735Ile						p.V1735I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			34	5353	-		Ovarian(137;0.0654)	1735					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.5203G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	0.497	-0.872483	0.02570	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.52526	0.66	4.82	0.527	0.17084	.	0.000000	0.30109	U	0.010394	T	0.22704	0.0548	N	0.17594	0.5	0.80722	D	1	B	0.20459	0.045	B	0.13407	0.009	T	0.19844	-1.0293	10	0.05721	T	0.95	.	8.2851	0.31924	0.1201:0.7116:0.0:0.1682	.	1734	F8WD23	.	I	1735;1734	ENSP00000377197:V1735I	ENSP00000310485:V26I	V	-	1	0	HYDIN	69565259	0.903000	0.30736	0.943000	0.38184	0.531000	0.34715	0.028000	0.13644	0.190000	0.20209	0.505000	0.49811	GTC		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	47	0	0	0	1	0	7	47					T	71007758	C	T	71007758	3	4	507	1	0	0	0	0	1	0	0	0	7467	536	19	1	10374	1	HYDIN	16	71007758	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	13953047	71007758	19346995	56	40390											
TP53	7157	broad.mit.edu	37	chr17	7578400	7578400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagcgctcatggtggGggcagcgcctcacaacctcc	13	15	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578400G>T	ENST00000269305.4	-	5	719	c.530C>A	c.(529-531)cCc>cAc	p.P177H	TP53_ENST00000420246.2_Missense_Mutation_p.P177H|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000455263.2_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H|TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)	CTCATGGTGGGGGCAGCGCCT	0.647		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	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						c.(529-531)cCc>cAc	Other conserved DNA damage response genes	tumor protein p53							48	48	48					17																	7578400		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578400G>T	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.530C>A	17.37:g.7578400G>T	ENSP00000269305:p.Pro177His	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)				TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000269305.4_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H|TP53_ENST00000455263.2_Missense_Mutation_p.P177H	p.P177H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	662	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.530C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495206	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	D	0.000000	D	0.99832	0.9924	M	0.81239	2.535	0.80722	D	1	P;P;B;D;P;P;P	0.58268	0.596;0.691;0.062;0.982;0.908;0.737;0.485	P;P;B;P;P;P;B	0.59221	0.53;0.65;0.085;0.854;0.782;0.697;0.4	D	0.96353	0.9260	10	0.72032	D	0.01	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177H;ENSP00000352610:P177H;ENSP00000269305:P177H;ENSP00000398846:P177H;ENSP00000391127:P177H;ENSP00000391478:P177H;ENSP00000425104:P45H;ENSP00000423862:P84H	ENSP00000269305:P177H	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	29	1	0	3.1745e-13	1	3.42701e-13	31	29					T	7578400	G	T	7578400	3	4	507	1	0	0	0	0	1	0	0	0	16378	1232	43	4	768	4	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		7578400	73616810	57	40391											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	18	11	1	0	rs28934874|rs137852790|rs137852791		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578479G>C	ENST00000269305.4	-	5	640	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TP53_ENST00000420246.2_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A|TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000574684.1_5'Flank	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Gcc	Other conserved DNA damage response genes	tumor protein p53							55	55	55					17																	7578479		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578479G>C	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.451C>G	17.37:g.7578479G>C	ENSP00000269305:p.Pro151Ala	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)				TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000269305.4_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A	p.P151A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.451C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967091	0.53507	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99885	0.9945	M	0.83692	2.655	0.53688	D	0.999972	D;P;D;P;D;P;D	0.89917	0.994;0.919;0.97;0.912;0.98;0.934;1.0	P;P;P;P;D;P;D	0.91635	0.854;0.796;0.867;0.819;0.918;0.871;0.999	D	0.96428	0.9317	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	A	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151A;ENSP00000352610:P151A;ENSP00000269305:P151A;ENSP00000398846:P151A;ENSP00000391127:P151A;ENSP00000391478:P151A;ENSP00000425104:P19A;ENSP00000423862:P58A;ENSP00000424104:P151A	ENSP00000269305:P151A	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	43	0	0	0	1	0	18	43					C	7578479	G	C	7578479	3	2	507	1	0	0	0	0	1	0	0	0	16378	1261	44	4	847	4	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	79	7578479	73616731	58	40392											
DNAH9	1770	broad.mit.edu	37	chr17	11666834	11666834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaatgtctcctgaccaCggaggacatccctgcagact	10	13	2	2	rs568542419		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:11666834C>T	ENST00000262442.4	+	36	7141	c.7073C>T	c.(7072-7074)aCg>aTg	p.T2358M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2358					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)		CTCCTGACCACGGAGGACATC	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21587	0.0		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				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						c.(7072-7074)aCg>aTg		dynein, axonemal, heavy chain 9							145	134	138					17																	11666834		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11666834C>T	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.7073C>T	17.37:g.11666834C>T	ENSP00000262442:p.Thr2358Met					DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	36	7141	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2358					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7073C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757530	0.31137	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25912	1.77;1.77	4.65	-0.994	0.10225	.	0.634340	0.16558	N	0.209176	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	P	0.40398	0.716	B	0.39379	0.298	T	0.16719	-1.0393	10	0.87932	D	0	.	3.939	0.09318	0.4193:0.3876:0.072:0.1211	.	2358	Q9NYC9	DYH9_HUMAN	M	2358;2358;940	ENSP00000262442:T2358M;ENSP00000414874:T2358M	ENSP00000262442:T2358M	T	+	2	0	DNAH9	11607559	0.000000	0.05858	0.062000	0.19696	0.503000	0.33858	0.172000	0.16704	-0.067000	0.12976	-0.266000	0.10368	ACG		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		32	68	0	0	0	1	0	32	68					T	11666834	C	T	11666834	3	4	507	1	0	0	0	0	1	0	0	0	4608	536	19	1	7215	1	DNAH9	17	11666834	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	4088355	11666834	69528376	59	40393											
NOS2	4843	broad.mit.edu	37	chr17	26084290	26084290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagcgctgacatctcCaggctgctgggctgcaccgc	12	16	2	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:26084290C>T	ENST00000313735.6	-	27	3677	c.3444G>A	c.(3442-3444)ctG>ctA	p.L1148L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1148					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTGACATCTCCAGGCTGCTGG	0.547											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(3442-3444)ctG>ctA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						61	53	56					17																	26084290		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26084290C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3444G>A	17.37:g.26084290C>T			OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97		p.L1148L	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			27	3677	-			1148					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.3444G>A	CCDS11223.1																																																																																				0.547	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		39	60	0	0	0	1	0	39	60					T	26084290	C	T	26084290	2	4	507	1	0	0	0	0	0	0	0	1	10543	581	21	2		2	NOS2	17	26084290	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	14417456	26084290	55110920	60	40394											
GNA13	10672	broad.mit.edu	37	chr17	63049735	63049735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaccattccttgggctGccatgggggcccgggtatca	12	13	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:63049735G>A	ENST00000439174.2	-	2	640	c.395C>T	c.(394-396)gCa>gTa	p.A132V	GNA13_ENST00000541118.1_Missense_Mutation_p.A37V|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	132					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						TCCTTGGGCTGCCATGGGGGC	0.488																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(394-396)gCa>gTa		guanine nucleotide binding protein (G protein), alpha 13							132	132	132					17																	63049735		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63049735G>A	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.395C>T	17.37:g.63049735G>A	ENSP00000400717:p.Ala132Val					GNA13_ENST00000541118.1_Missense_Mutation_p.A37V	p.A132V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			2	640	-			132					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.395C>T	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924868	0.34002	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88201	-2.35;-2.35	5.42	-0.0457	0.13850	G protein alpha subunit, helical insertion (2);	2.399980	0.01467	N	0.016107	T	0.78629	0.4313	N	0.14661	0.345	0.32711	N	0.511547	B	0.15141	0.012	B	0.04013	0.001	T	0.68104	-0.5497	10	0.06494	T	0.89	.	9.6309	0.39778	0.5761:0.0:0.4239:0.0	.	132	Q14344	GNA13_HUMAN	V	132;37;107	ENSP00000400717:A132V;ENSP00000439647:A37V	ENSP00000239138:A107V	A	-	2	0	GNA13	60480197	1.000000	0.71417	0.505000	0.27651	0.959000	0.62525	2.265000	0.43311	-0.004000	0.14419	0.655000	0.94253	GCA		0.488	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		5	297	0	0	0	1	0	5	297					A	63049735	G	A	63049735	3	1	507	1	0	0	0	0	1	0	0	0	6501	1319	46	2	750	2	GNA13	17	63049735	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	36965445	63049735	18145475	61	40395											
COLEC12	81035	broad.mit.edu	37	chr18	346800	346800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgttggctttggccaaCgcagagttgttggcagccag	14	9	0	1	rs374626477		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:346800C>T	ENST00000400256.3	-	5	1029	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	274					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)				CTTTGGCCAACGCAGAGTTGT	0.502																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(820-822)gcG>gcA		collectin sub-family member 12		C		0,4406		0,0,2203	143	118	127		822	3.3	1	18		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COLEC12	NM_130386.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		274/743	346800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346800C>T	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.822G>A	18.37:g.346800C>T							p.A274A	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	1029	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	274					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.822G>A	CCDS32782.1																																																																																				0.502	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			26	52	0	0	0	1	0	26	52					T	346800	C	T	346800	2	4	507	1	0	0	0	0	0	0	0	1	3712	523	19	1		1	COLEC12	18	346800	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		346800	77730448	62	40396											
TUBB6	84617	broad.mit.edu	37	chr18	12325299	12325299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacaccttcagcgtcatgCcctcgcccaaggtgtcggac	10	15	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:12325299C>T	ENST00000317702.5	+	4	745	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	171					'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)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAGCGTCATGCCCTCGCCCAA	0.617																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(511-513)Ccc>Tcc		tubulin, beta 6 class V							175	139	152					18																	12325299		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325299C>T	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"Tubulins"	20776	protein-coding gene	gene with protein product	"tubulin beta MGC4083", "class V beta-tubulin"	615103	"tubulin, beta 6"			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.511C>T	18.37:g.12325299C>T	ENSP00000318697:p.Pro171Ser					TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron	p.P171S			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	745	+			171					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.511C>T	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721169	0.68959	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.89681	-2.55	5.04	5.04	0.67666	Tubulin/FtsZ, GTPase domain (4);	0.049922	0.85682	D	0.000000	D	0.96648	0.8906	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.97110	0.814;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	18.7482	0.91802	0.0:1.0:0.0:0.0	.	143;171	B4DP54;Q9BUF5	.;TBB6_HUMAN	S	171;99;143	ENSP00000318697:P171S	ENSP00000318697:P171S	P	+	1	0	TUBB6	12315299	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.669000	0.83911	2.506000	0.84524	0.462000	0.41574	CCC		0.617	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		4	119	0	0	0	1	0	4	119					T	12325299	C	T	12325299	3	4	507	1	0	0	0	0	1	0	0	0	16757	739	26	2	525	2	TUBB6	18	12325299	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	11978499	12325299	65751949	63	40397											
ZNF521	25925	broad.mit.edu	37	chr18	22807028	22807028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaagagctcgtggcagTagacacactggagggccgct	14	11	0	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:22807028T>C	ENST00000361524.3	-	4	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	285					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)					CTCGTGGCAGTAGACACACTG	0.547			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(853-855)tAc>tGc		zinc finger protein 521							99	94	95					18																	22807028		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807028T>C	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.854A>G	18.37:g.22807028T>C	ENSP00000354794:p.Tyr285Cys					ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C	p.Y285C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1002	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		285					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.854A>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370987	0.24771	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.29142	1.58;1.58	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.53780	1.695	0.47949	D	0.999552	D	0.76494	0.999	D	0.73708	0.981	T	0.52087	-0.8622	10	0.72032	D	0.01	-45.4738	16.5446	0.84426	0.0:0.0:0.0:1.0	.	285	Q96K83	ZN521_HUMAN	C	285;319;285	ENSP00000354794:Y285C;ENSP00000382352:Y285C	ENSP00000354794:Y285C	Y	-	2	0	ZNF521	21061026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.311000	0.77944	0.533000	0.62120	TAC		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		28	39	0	0	0	1	0	28	39					C	22807028	T	C	22807028	3	2	507	1	0	0	0	0	1	0	0	0	17962	1638	57	3	3101	3	ZNF521	18	22807028	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	10481729	22807028	55270220	64	40398											
S1PR4	8698	broad.mit.edu	37	chr19	3179742	3179742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggaggtgtgcagagccGtgctcagcttcctctgctgc	15	12	2	1	rs145561195	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:3179742G>A	ENST00000246115.3	+	1	1007	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	318					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|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)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.V318M(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGCAGAGCCGTGCTCAGCTT	0.687																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			2	Substitution - Missense(2)	p.V318M(2)	breast(2)	breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(952-954)Gtg>Atg		sphingosine-1-phosphate receptor 4		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	54	56	56		952	3.7	1	19	dbSNP_134	56	3,8597	3.7+/-12.6	0,3,4297	yes	missense	S1PR4	NM_003775.3	21	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging	318/385	3179742	4,13002	2203	4300	6503	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179742G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.952G>A	19.37:g.3179742G>A	ENSP00000246115:p.Val318Met						p.V318M	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	1007	+			318					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.952G>A	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807081	0.31961	2.27E-4	3.49E-4	ENSG00000125910	ENST00000246115	T	0.39229	1.09	3.71	3.71	0.42584	.	0.151251	0.45606	D	0.000355	T	0.34366	0.0895	L	0.29908	0.895	0.43766	D	0.996288	D	0.57257	0.979	P	0.44518	0.452	T	0.23190	-1.0195	10	0.46703	T	0.11	.	14.2033	0.65719	0.0:0.0:1.0:0.0	.	318	O95977	S1PR4_HUMAN	M	318	ENSP00000246115:V318M	ENSP00000246115:V318M	V	+	1	0	S1PR4	3130742	0.997000	0.39634	0.994000	0.49952	0.100000	0.18952	3.155000	0.50700	1.923000	0.55706	0.462000	0.41574	GTG		0.687	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		32	70	0	0	0	1	0	32	70					A	3179742	G	A	3179742	3	1	507	1	0	0	0	0	1	0	0	0	13796	1145	40	1	954	1	S1PR4	19	3179742	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		3179742	55949241	65	40399											
ZNF90	7643	broad.mit.edu	37	chr19	20229690	20229690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcagcccttagcacaCataagataattcatagtgga	7	11	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:20229690C>A	ENST00000418063.2	+	4	1439	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	443					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(1)|lung(2)|ovary(1)|skin(1)	5						CCTTAGCACACATAAGATAAT	0.388																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(1327-1329)Cat>Aat		zinc finger protein 90							43	40	41					19																	20229690		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229690C>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1327C>A	19.37:g.20229690C>A	ENSP00000410466:p.His443Asn					ZNF90_ENST00000474284.1_Intron	p.H443N	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	1439	+			443					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1327C>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346161	0.41599	.	.	ENSG00000213988	ENST00000418063	D	0.86865	-2.18	0.793	0.793	0.18632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93556	0.7943	M	0.93550	3.43	0.31469	N	0.668635	D	0.60160	0.987	D	0.71870	0.975	D	0.89596	0.3831	8	.	.	.	.	7.0937	0.25297	0.0:1.0:0.0:0.0	.	443	Q03938	ZNF90_HUMAN	N	443	ENSP00000410466:H443N	.	H	+	1	0	ZNF90	20090690	0.986000	0.35501	0.011000	0.14972	0.011000	0.07611	3.674000	0.54598	0.283000	0.22279	0.289000	0.19496	CAT		0.388	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		8	22	1	0	1.06961e-07	1	1.11663e-07	8	22					A	20229690	C	A	20229690	3	1	507	1	0	0	0	0	1	0	0	0	18196	478	17	4	1341	4	ZNF90	19	20229690	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	17049948	20229690	38899293	66	40400											
MYBPC2	4606	broad.mit.edu	37	chr19	50939061	50939061	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggaccagtccccgacTgcagaggagcccaccggcgt	13	17	0	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:50939061T>C	ENST00000357701.5	+	3	189	c.138T>C	c.(136-138)acT>acC	p.T46T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	46					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)		AGTCCCCGACTGCAGAGGAGC	0.662																																						ENST00000357701.5																			0				breast(1)	1						c.(136-138)acT>acC		myosin binding protein C, fast type							23	26	25					19																	50939061		1880	4103	5983	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939061T>C		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.138T>C	19.37:g.50939061T>C							p.T46T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	3	189	+		all_neural(266;0.057)	46					A1L4G9	Silent	SNP	ENST00000357701.5	37	c.138T>C	CCDS46152.1																																																																																				0.662	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		7	10	0	0	0	1	0	7	10					C	50939061	T	C	50939061	2	2	507	1	0	0	0	0	0	0	0	1	10012	1567	55	3		3	MYBPC2	19	50939061	Silent	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	30709371	50939061	8189922	67	40401											
CHRNA4	1137	broad.mit.edu	37	chr20	61981649	61981649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttatgcatggactcgaTgagccgccggcaattgtcct	10	12	1	1	rs371777027		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:61981649T>C	ENST00000370263.4	-	5	1335	c.1114A>G	c.(1114-1116)Atc>Gtc	p.I372V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	372					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				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)	ATGGACTCGATGAGCCGCCGG	0.672																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1114-1116)Atc>Gtc		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						42	35	37					20																	61981649		2201	4300	6501	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981649T>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1114A>G	20.37:g.61981649T>C	ENSP00000359285:p.Ile372Val					CHRNA4_ENST00000463705.1_5'UTR	p.I372V	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1335	-	all_cancers(38;1.71e-10)		372					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1114A>G	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483285	0.26598	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85861	-2.04	4.41	2.02	0.26589	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.566480	0.01360	U	0.012216	T	0.81346	0.4803	L	0.42487	1.325	0.49915	D	0.999839	B;B	0.23058	0.079;0.0	B;B	0.26310	0.068;0.012	T	0.57154	-0.7860	10	0.15066	T	0.55	.	9.3979	0.38415	0.0:0.1594:0.0:0.8406	.	301;372	Q4VAQ5;P43681	.;ACHA4_HUMAN	V	278;372;301	ENSP00000359285:I372V	ENSP00000359280:I278V	I	-	1	0	CHRNA4	61452093	1.000000	0.71417	0.977000	0.42913	0.537000	0.34900	2.391000	0.44424	0.630000	0.30394	0.533000	0.62120	ATC		0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			5	19	0	0	0	1	0	5	19					C	61981649	T	C	61981649	3	2	507	1	0	0	0	0	1	0	0	0	3385	1464	51	3	777	3	CHRNA4	20	61981649	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		61981649	1043871	68	40402											
NRIP1	8204	broad.mit.edu	37	chr21	16339588	16339588	+	Frame_Shift_Del	DEL	T	T	-													ggtaactgccaacatccttcTggccattttcttgcaatctg							TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:16339588delT	ENST00000400202.1	-	3	1638	c.926delA	c.(925-927)cagfs	p.Q309fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	309	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AACATCCTTCTGGCCATTTTC	0.433																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(925-927)cgfs		nuclear receptor interacting protein 1							64	61	62					21																	16339588		2203	4300	6503	SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339588delT	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.926delA	21.37:g.16339588delT	ENSP00000383063:p.Gln309fs					NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs	p.Q309fs			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1638	-			309			Repression domain 1.		Q8IWE8	Frame_Shift_Del	DEL	ENST00000400202.1	37	c.926delA	CCDS13568.1																																																																																				0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		18	71						18	71	---	---	---	---	-	16339588	T	-	16339588	7	5	507	1	0	1	0	1	0	0	0	0	10652	1580	55	0	2554	0	NRIP1	21	16339588	Frame_Shift_Del	DEL	T	TCGA-VW-A8FI-01A-11D-A36O-08		16339588	31790307	69	40403											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253792	32253792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccactggaacaatgcagcGtcctccaatgggcctggaag	13	12	0	0	rs199724044		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:32253792G>A	ENST00000332378.4	-	1	82	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAATGCAGCGTCCTCCAATG	0.542																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(52-54)Cgc>Tgc		keratin associated protein 11-1							97	89	92					21																	32253792		2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253792G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.52C>T	21.37:g.32253792G>A	ENSP00000330720:p.Arg18Cys						p.R18C	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	82	-			18					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.52C>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950332	0.34377	.	.	ENSG00000182591	ENST00000332378	T	0.03094	4.05	5.4	3.57	0.40892	.	0.608443	0.16373	N	0.217235	T	0.06645	0.0170	L	0.27053	0.805	0.35242	D	0.777883	D	0.71674	0.998	P	0.57846	0.828	T	0.47169	-0.9138	10	0.37606	T	0.19	-3.1116	9.2557	0.37581	0.0807:0.147:0.7723:0.0	.	18	Q8IUC1	KR111_HUMAN	C	18	ENSP00000330720:R18C	ENSP00000330720:R18C	R	-	1	0	KRTAP11-1	31175663	0.904000	0.30761	0.533000	0.28001	0.344000	0.29017	1.338000	0.33873	0.776000	0.33473	0.650000	0.86243	CGC		0.542	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			29	63	0	0	0	1	0	29	63					A	32253792	G	A	32253792	3	1	507	1	0	0	0	0	1	0	0	0	8517	1145	40	1	443	1	KRTAP11-1	21	32253792	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	15914204	32253792	15876103	70	40404											
NDUFV3	4731	broad.mit.edu	37	chr21	44323624	44323624	+	Intron	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attctgaatctgatgatgagGctgacgtttcagaggtcact	11	7	4	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:44323624G>C	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.A168P|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						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)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TGATGATGAGGCTGACGTTTC	0.542																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(502-504)Gct>Cct		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						94	95	95					21																	44323624		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323624G>C		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5350G>C	21.37:g.44323624G>C						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.A168P	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	571	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.502G>C	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934651	0.34189	.	.	ENSG00000160194	ENST00000354250	T	0.47177	0.85	5.84	3.08	0.35506	.	1.002100	0.08042	N	0.995228	T	0.28433	0.0703	N	0.14661	0.345	0.19945	N	0.999947	P	0.50617	0.937	B	0.37550	0.253	T	0.07177	-1.0786	10	0.34782	T	0.22	-0.0222	8.8934	0.35449	0.2976:0.0:0.7024:0.0	.	168	P56181-2	.	P	168	ENSP00000346196:A168P	ENSP00000346196:A168P	A	+	1	0	NDUFV3	43196693	0.933000	0.31639	0.041000	0.18516	0.002000	0.02628	1.117000	0.31234	0.392000	0.25172	-0.150000	0.13652	GCT		0.542	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			49	119	0	0	0	1	0	49	119					C	44323624	G	C	44323624	1	2	507	0	1	0	0	0	0	0	0	0	10301	1203	42	4		4	NDUFV3	21	44323624	Intron	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	12069832	44323624	3806271	71	40405											
CBX6	23466	broad.mit.edu	37	chr22	39262562	39262562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatgggctcacggtctcGgggaggagcttggggggcgt	22	8	2	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr22:39262562G>A	ENST00000407418.3	-	5	1014	c.891C>T	c.(889-891)ccC>ccT	p.P297P	CBX6_ENST00000216083.6_Silent_p.P279P			O95503	CBX6_HUMAN	chromobox homolog 6	297					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCACGGTCTCGGGGAGGAGCT	0.741																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(889-891)ccC>ccT		chromobox homolog 6							5	6	5					22																	39262562		2058	4090	6148	SO:0001819	synonymous_variant	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262562G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.891C>T	22.37:g.39262562G>A						CBX6_ENST00000216083.6_Silent_p.P279P	p.P297P			O95503	CBX6_HUMAN			5	1014	-	Melanoma(58;0.04)		297					A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	c.891C>T	CCDS13980.1																																																																																				0.741	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		3	10	0	0	0	1	0	3	10					A	39262562	G	A	39262562	2	1	507	1	0	0	0	0	0	0	0	1	2722	1103	39	1		1	CBX6	22	39262562	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		39262562	12042004	72	40406											
MAGEB6	158809	broad.mit.edu	37	chrX	26212102	26212102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcatcctcttctcgcGcttgtctgggtgattgtcgt	9	13	4	1	rs369371623		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:26212102G>A	ENST00000379034.1	+	2	288	c.139G>A	c.(139-141)Gct>Act	p.A47T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	47	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCTTCTCGCGCTTGTCTGGG	0.552																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(139-141)Gct>Act		melanoma antigen family B, 6		G	THR/ALA	1,3832		0,1,1630,571	116	98	104		139	-3.3	0	X		104	0,6728		0,0,2428,1872	no	missense	MAGEB6	NM_173523.2	58	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	47/408	26212102	1,10560	2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212102G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.139G>A	X.37:g.26212102G>A	ENSP00000368320:p.Ala47Thr						p.A47T	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	288	+			47			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.139G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	1.453	-0.564410	0.03939	2.61E-4	0.0	ENSG00000176746	ENST00000379034	T	0.04234	3.67	1.67	-3.33	0.04958	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.02230	0.0069	N	0.24115	0.695	0.09310	N	1	B	0.28933	0.228	B	0.14023	0.01	T	0.47787	-0.9090	9	0.10377	T	0.69	.	4.064	0.09851	0.0:0.3921:0.3826:0.2253	.	47	Q8N7X4	MAGB6_HUMAN	T	47	ENSP00000368320:A47T	ENSP00000368320:A47T	A	+	1	0	MAGEB6	26122023	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.112000	0.02984	-0.328000	0.08392	GCT		0.552	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		50	8	0	0	0	1	0	50	8					A	26212102	G	A	26212102	3	1	507	1	0	0	0	0	1	0	0	0	9179	1087	38	1	141	1	MAGEB6	23	26212102	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		26212102	129058458	73	40407											
FAM47C	442444	broad.mit.edu	37	chrX	37026705	37026705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcttgtttgtcgccgtgaCgagtttttactccccaaaat	8	11	0	1	rs149618786	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:37026705C>T	ENST00000358047.3	+	1	274	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74								p.D74D(1)		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						GTCGCCGTGACGAGTTTTTAC	0.527																																						ENST00000358047.3																			1	Substitution - coding silent(1)	p.D74D(1)	ovary(1)	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						c.(220-222)gaC>gaT		family with sequence similarity 47, member C		C		2,3831		0,2,0,1629,571	78	71	74		222	-1	0	X	dbSNP_134	74	5,6723		0,2,3,2426,1869	no	coding-synonymous	FAM47C	NM_001013736.2		0,4,3,4055,2440	TT,TC,T,CC,C		0.0743,0.0522,0.0663		74/1036	37026705	7,10554	2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37026705C>T	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.222C>T	X.37:g.37026705C>T							p.D74D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	274	+			74					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.222C>T	CCDS35227.1																																																																																				0.527	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		33	9	0	0	0	1	0	33	9					T	37026705	C	T	37026705	2	4	507	1	0	0	0	0	0	0	0	1	5571	535	19	1		1	FAM47C	23	37026705	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	10814603	37026705	118243855	74	40408											
ELK1	2002	broad.mit.edu	37	chrX	47500629	47500629	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtctgagagactgtAccttgtcatagtagtaccgc	11	11	2	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:47500629A>G	ENST00000247161.3	-	2	310		c.e2+1		ELK1_ENST00000592066.1_Splice_Site|ELK1_ENST00000343894.4_Splice_Site|ELK1_ENST00000376983.3_Splice_Site	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family						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						GAGAGACTGTACCTTGTCATA	0.478																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.e2+1		ELK1, member of ETS oncogene family							103	85	91					X																	47500629		2203	4300	6503	SO:0001630	splice_region_variant	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47500629A>G	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.210+1T>C	X.37:g.47500629A>G						ELK1_ENST00000343894.4_Splice_Site|ELK1_ENST00000376983.3_Splice_Site|ELK1_ENST00000592066.1_Splice_Site		NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			2	310	-								B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Splice_Site	SNP	ENST00000247161.3	37		CCDS14283.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945394	0.53079	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.607	0.51037	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELK1	47385573	1.000000	0.71417	0.994000	0.49952	0.567000	0.35839	9.031000	0.93731	1.869000	0.54173	0.412000	0.27726	.		0.478	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229	Intron	25	4	0	0	0	1	0	25	4					G	47500629	A	G	47500629	5	3	507	1	0	0	0	0	0	0	1	0	5059	405	14	3	1094	3	ELK1	23	47500629	Splice_Site	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	10473924	47500629	107769931	75	40409											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	8	11	3	0	rs11554290	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		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)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		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)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	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						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180	156	164					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	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.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		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)	3	435	-	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)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		7	78	0	0	0	1	0	7	78					C	115256529	T	C	115256529	3	2	508	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		115256529	133994092	1	40410											
OBSCN	84033	broad.mit.edu	37	chr1	228481238	228481238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgagctgcagatccgCggcctcgtggcagaggacgc	17	11	0	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:228481238C>T	ENST00000422127.1	+	41	11096	c.11052C>T	c.(11050-11052)cgC>cgT	p.R3684R	OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000570156.2_Silent_p.R4113R|OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000284548.11_Silent_p.R3684R|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Silent_p.R2531R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3684	Ig-like 37.				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)				TGCAGATCCGCGGCCTCGTGG	0.637																																						ENST00000570156.2																			0				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						c.(12337-12339)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							92	99	96					1																	228481238		2183	4267	6450	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481238C>T	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.11052C>T	1.37:g.228481238C>T						OBSCN_ENST00000284548.11_Silent_p.R3684R|OBSCN_ENST00000422127.1_Silent_p.R3684R|OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000359599.6_Silent_p.R2531R	p.R4113R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12413	+		Prostate(94;0.0405)	3155			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12339C>T	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	78	0	0	0	1	0	26	78					T	228481238	C	T	228481238	2	4	508	1	0	0	0	0	0	0	0	1	10812	755	27	1		1	OBSCN	1	228481238	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	113224709	228481238	20769383	2	40411											
OR2W3	343171	broad.mit.edu	37	chr1	248059036	248059036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatcatcctggtgtccCggctggacccccacctccac	7	21	1	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:248059036C>T	ENST00000360358.3	+	1	148	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	OR2W3_ENST00000537741.1_Missense_Mutation_p.R50W	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGTGTCCCGGCTGGACCC	0.587																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(148-150)Cgg>Tgg		olfactory receptor, family 2, subfamily W, member 3							198	171	180					1																	248059036		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059036C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.148C>T	1.37:g.248059036C>T	ENSP00000353516:p.Arg50Trp					OR2W3_ENST00000360358.3_Missense_Mutation_p.R50W	p.R50W			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	405	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		50					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.148C>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	3.975	-0.007599	0.07773	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00504	6.94;6.94	5.29	-0.756	0.11057	GPCR, rhodopsin-like superfamily (1);	0.552403	0.16279	N	0.221436	T	0.00356	0.0011	L	0.38953	1.18	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.41197	-0.9522	10	0.38643	T	0.18	.	5.8303	0.18577	0.4562:0.3972:0.0:0.1466	.	50	Q7Z3T1	OR2W3_HUMAN	W	50	ENSP00000445853:R50W;ENSP00000353516:R50W	ENSP00000353516:R50W	R	+	1	2	OR2W3	246125659	0.000000	0.05858	0.011000	0.14972	0.048000	0.14542	-4.050000	0.00305	0.000000	0.14550	0.609000	0.83330	CGG		0.587	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		18	128	0	0	0	1	0	18	128					T	248059036	C	T	248059036	3	4	508	1	0	0	0	0	1	0	0	0	11033	643	23	1	150	1	OR2W3	1	248059036	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	19577798	248059036	1191585	3	40412											
MAP4K3	8491	broad.mit.edu	37	chr2	39499514	39499514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaaaagccctggtaaaTtatgggaataaagctgagaa	9	5	1	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:39499514T>C	ENST00000263881.3	-	26	2207	c.1883A>G	c.(1882-1884)aAt>aGt	p.N628S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	628	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCCTGGTAAATTATGGGAATA	0.328																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1882-1884)aAt>aGt		mitogen-activated protein kinase kinase kinase kinase 3							72	74	73					2																	39499514		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499514T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1883A>G	2.37:g.39499514T>C	ENSP00000263881:p.Asn628Ser					MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S	p.N628S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			26	2207	-		all_hematologic(82;0.211)	628			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1883A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375027	0.24857	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.78	5.78	0.91487	Citron-like (3);	0.154326	0.56097	D	0.000028	T	0.05318	0.0141	L	0.28694	0.88	0.58432	D	0.999998	B;B	0.23735	0.036;0.09	B;B	0.26517	0.031;0.07	T	0.47761	-0.9092	10	0.16420	T	0.52	.	16.1215	0.81361	0.0:0.0:0.0:1.0	.	607;628	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	628;544;607;181	ENSP00000263881:N628S;ENSP00000416958:N544S;ENSP00000345434:N607S;ENSP00000440580:N181S	ENSP00000263881:N628S	N	-	2	0	MAP4K3	39353018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.497000	0.60367	2.208000	0.71279	0.528000	0.53228	AAT		0.328	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		4	100	0	0	0	1	0	4	100					C	39499514	T	C	39499514	3	2	508	1	0	0	0	0	1	0	0	0	9261	1493	52	3	837	3	MAP4K3	2	39499514	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		39499514	203699859	4	40413											
DBI	1622	broad.mit.edu	37	chr2	120128319	120128319	+	Frame_Shift_Del	DEL	G	G	-													ttcttcccttgtttaagaacGgcccgggatgttggacttca							TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:120128319delG	ENST00000355857.3	+	3	262	c.131delG	c.(130-132)cggfs	p.R44fs	DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs|DBI_ENST00000542275.1_Frame_Shift_Del_p.R105fs|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	44	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GTTTAAGAACGGCCCGGGATG	0.428																																						ENST00000542275.1																			0				kidney(1)|lung(4)|skin(1)	6						c.(313-315)cgfs		diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)							68	64	65					2																	120128319		2203	4300	6503	SO:0001589	frameshift_variant	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120128319delG	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.131delG	2.37:g.120128319delG	ENSP00000348116:p.Arg44fs					DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000355857.3_Frame_Shift_Del_p.R44fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs	p.R105fs	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN			3	398	+			44					B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Frame_Shift_Del	DEL	ENST00000355857.3	37	c.314delG	CCDS42740.1																																																																																				0.428	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		13	31						13	31	---	---	---	---	-	120128319	G	-	120128319	7	5	508	1	0	1	0	1	0	0	0	0	4251	1116	39	0	447	0	DBI	2	120128319	Frame_Shift_Del	DEL	G	TCGA-W9-A837-01A-11D-A36O-08	80628805	120128319	123071054	5	40414											
LCT	3938	broad.mit.edu	37	chr2	136594247	136594247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaccagatcccaactaGgtccccgaaggagtggaagg	14	10	0	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:136594247G>A	ENST00000264162.2	-	1	503	c.493C>T	c.(493-495)Cta>Tta	p.L165L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	165	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)	ATCCCAACTAGGTCCCCGAAG	0.577																																						ENST00000264162.2																			0				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						c.(493-495)Cta>Tta		lactase							104	91	96					2																	136594247		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594247G>A	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.493C>T	2.37:g.136594247G>A							p.L165L	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	503	-			165			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.493C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	82	0	0	0	1	0	4	82					A	136594247	G	A	136594247	2	1	508	1	0	0	0	0	0	0	0	1	8693	991	35	2		2	LCT	2	136594247	Silent	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	16465928	136594247	106605126	6	40415											
SCN3A	6328	broad.mit.edu	37	chr2	166010994	166010994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttgctttttaagctgttCgagcatctgctgaaattcgg	10	8	1	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:166010994C>T	ENST00000360093.3	-	11	1839	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	450					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)	p.E450K(1)		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)	TTAAGCTGTTCGAGCATCTGC	0.403																																						ENST00000360093.3																			1	Substitution - Missense(1)	p.E450K(1)	large_intestine(1)	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						c.(1348-1350)Gaa>Aaa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						117	113	114					2																	166010994		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166010994C>T	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.1348G>A	2.37:g.166010994C>T	ENSP00000353206:p.Glu450Lys					SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K	p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			11	1839	-			450					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1348G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.109195	0.77096	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96913	-4.17;-4.17;-4.15;-4.02	5.6	5.6	0.85130	.	0.100000	0.43579	D	0.000547	D	0.95214	0.8448	M	0.66439	2.03	0.80722	D	1	B;B;B;B;B	0.31837	0.342;0.342;0.198;0.198;0.198	B;B;B;B;B	0.23852	0.022;0.022;0.049;0.049;0.049	D	0.94142	0.7398	10	0.72032	D	0.01	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	450;450;450;450;450	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	450	ENSP00000353206:E450K;ENSP00000283254:E450K;ENSP00000386726:E450K;ENSP00000403348:E450K	ENSP00000283254:E450K	E	-	1	0	SCN3A	165719240	1.000000	0.71417	0.915000	0.36163	0.980000	0.70556	7.818000	0.86416	2.636000	0.89361	0.591000	0.81541	GAA		0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	82	0	0	0	1	0	5	82					T	166010994	C	T	166010994	3	4	508	1	0	0	0	0	1	0	0	0	13918	893	31	1	4726	1	SCN3A	2	166010994	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	29416747	166010994	77188379	7	40416											
ZDBF2	57683	broad.mit.edu	37	chr2	207171695	207171695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttatgaggaagaaactGttgatctggaaagtaaaagt	11	3	1	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:207171695G>A	ENST00000374423.3	+	5	2829	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	815							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						GGAAGAAACTGTTGATCTGGA	0.348																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2443-2445)Gtt>Att		zinc finger, DBF-type containing 2							68	69	69					2																	207171695		1848	4098	5946	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171695G>A	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.2443G>A	2.37:g.207171695G>A	ENSP00000363545:p.Val815Ile						p.V815I	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2829	+			815					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2443G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064049	0.20067	.	.	ENSG00000204186	ENST00000374423	T	0.51325	0.71	4.5	-2.07	0.07276	.	0.489450	0.15305	N	0.269408	T	0.17831	0.0428	N	0.04880	-0.145	0.09310	N	1	B	0.21452	0.056	B	0.15870	0.014	T	0.14699	-1.0463	10	0.19590	T	0.45	.	3.4847	0.07615	0.2669:0.0:0.4318:0.3013	.	815	Q9HCK1	ZDBF2_HUMAN	I	815	ENSP00000363545:V815I	ENSP00000363545:V815I	V	+	1	0	ZDBF2	206879940	0.001000	0.12720	0.000000	0.03702	0.724000	0.41520	-0.611000	0.05622	-0.358000	0.08162	0.655000	0.94253	GTT		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	55	0	0	0	1	0	5	55					A	207171695	G	A	207171695	3	1	508	1	0	0	0	0	1	0	0	0	17596	1377	48	2	2453	2	ZDBF2	2	207171695	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	41160701	207171695	36027678	8	40417											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			37	53	0	0	0	1	0	37	53					T	209113112	C	T	209113112	3	4	508	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	1941417	209113112	34086261	9	40418											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210376	49210376	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacatggcctcgcacacAtggctggcactggcacccct	11	16	0	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:49210376A>G	ENST00000332780.2	+	2	383	c.174A>G	c.(172-174)acA>acG	p.T58T	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	58						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGCACACATGGCTGGCAC	0.652																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(172-174)acA>acG		kelch domain containing 8B							59	53	55					3																	49210376		2203	4300	6503	SO:0001819	synonymous_variant	200942					cytoplasm		g.chr3:49210376A>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.174A>G	3.37:g.49210376A>G						KLHDC8B_ENST00000476495.2_3'UTR	p.T58T	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	383	+			58						Silent	SNP	ENST00000332780.2	37	c.174A>G	CCDS2791.1																																																																																				0.652	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		5	51	0	0	0	1	0	5	51					G	49210376	A	G	49210376	2	3	508	1	0	0	0	0	0	0	0	1	8363	204	8	3		3	KLHDC8B	3	49210376	Silent	SNP	A	TCGA-W9-A837-01A-11D-A36O-08		49210376	148812054	10	40419											
ALDH1L1	10840	broad.mit.edu	37	chr3	125831672	125831672	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtcctccacaaagagtcGgcctgctgcaatgcaattct	10	12	1	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:125831672G>A	ENST00000393434.2	-	19	2483	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	712	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)	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)	ACAAAGAGTCGGCCTGCTGCA	0.557																																						ENST00000393434.2																			0				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						c.(2134-2136)Cga>Tga		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						131	123	126					3																	125831672		2203	4300	6503	SO:0001587	stop_gained	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125831672G>A	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.2134C>T	3.37:g.125831672G>A	ENSP00000377083:p.Arg712*					ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	19	2483	-			712			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	ENST00000393434.2	37	c.2134C>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	42	9.643042	0.99227	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	.	.	.	4.51	4.51	0.55191	.	0.063153	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8845	0.41253	0.0:0.0:0.7962:0.2038	.	.	.	.	X	722;712;611;712	.	ENSP00000273450:R722X	R	-	1	2	ALDH1L1	127314362	0.999000	0.42202	0.995000	0.50966	0.852000	0.48524	1.904000	0.39868	2.331000	0.79229	0.467000	0.42956	CGA		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		9	78	0	0	0	1	0	9	78					A	125831672	G	A	125831672	4	1	508	1	0	0	0	0	0	1	0	0	494	1124	39	1	594	1	ALDH1L1	3	125831672	Nonsense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	76621296	125831672	72190758	11	40420											
NIPBL	25836	broad.mit.edu	37	chr5	36972046	36972046	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtatactctatttttaGgatggagattcttcaacaat	6	5	3	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36972046G>A	ENST00000282516.8	+	8	1270		c.e8-1		NIPBL_ENST00000504430.1_Splice_Site|NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						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)			TCTATTTTTAGGATGGAGATT	0.378																																						ENST00000282516.8																			0				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						c.e8-1		Nipped-B homolog (Drosophila)							49	48	48					5																	36972046		2203	4300	6503	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36972046G>A	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.772-1G>A	5.37:g.36972046G>A						NIPBL_ENST00000504430.1_Splice_Site|NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		8	1270	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396808	0.83120	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9059	0.97007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37007803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.116000	0.77119	2.693000	0.91896	0.655000	0.94253	.		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	9	45	0	0	0	1	0	9	45					A	36972046	G	A	36972046	5	1	508	1	0	0	0	0	0	0	1	0	10428	1014	35	2	797	2	NIPBL	5	36972046	Splice_Site	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		36972046	143943214	12	40421											
NIPBL	25836	broad.mit.edu	37	chr5	36985023	36985023	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgatgcacctgtttctgttCttcaggaagatattgttgga	10	6	3	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36985023C>T	ENST00000282516.8	+	10	2240	c.1741C>T	c.(1741-1743)Ctt>Ttt	p.L581F	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	581					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)			TGTTTCTGTTCTTCAGGAAGA	0.388																																						ENST00000282516.8																			0				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						c.(1741-1743)Ctt>Ttt		Nipped-B homolog (Drosophila)							80	81	81					5																	36985023		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985023C>T	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.1741C>T	5.37:g.36985023C>T	ENSP00000282516:p.Leu581Phe					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F	p.L581F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2240	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		581					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1741C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	2.705	-0.270180	0.05716	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93076	-3.16;-3.16	5.77	4.88	0.63580	.	0.332238	0.29846	N	0.011049	D	0.86855	0.6033	N	0.08118	0	0.29901	N	0.824394	B;B	0.16603	0.01;0.018	B;B	0.21917	0.016;0.037	T	0.81395	-0.0952	10	0.54805	T	0.06	.	16.6303	0.85032	0.0:0.8699:0.1301:0.0	.	581;581	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	581	ENSP00000282516:L581F;ENSP00000406266:L581F	ENSP00000282516:L581F	L	+	1	0	NIPBL	37020780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.250000	0.32850	1.402000	0.46780	0.650000	0.86243	CTT		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		8	90	0	0	0	1	0	8	90					T	36985023	C	T	36985023	3	4	508	1	0	0	0	0	1	0	0	0	10428	913	32	2	1775	2	NIPBL	5	36985023	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	12977	36985023	143930237	13	40422											
UTP15	84135	broad.mit.edu	37	chr5	72866466	72866466	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgaacgagtgagagtgttctCtccgttgagcatgggcagcc	14	10	1	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:72866466C>G	ENST00000296792.4	+	6	858	c.603C>G	c.(601-603)ctC>ctG	p.L201L	UTP15_ENST00000508491.1_Silent_p.L182L|UTP15_ENST00000543251.1_Silent_p.L11L	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	201					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGAGTGTTCTCTCCGTTGAGC	0.398																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(601-603)ctC>ctG		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							161	149	153					5																	72866466		2203	4300	6503	SO:0001819	synonymous_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866466C>G	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"WD repeat domain containing"	25758	protein-coding gene	gene with protein product			"UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.603C>G	5.37:g.72866466C>G						UTP15_ENST00000543251.1_Silent_p.L11L|UTP15_ENST00000508491.1_Silent_p.L182L	p.L201L	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	6	858	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	201					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	c.603C>G	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486675	0.12641	.	.	ENSG00000164338	ENST00000509005	.	.	.	5.85	2.03	0.26663	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43909	-0.9362	4	.	.	.	.	6.3821	0.21540	0.0:0.4278:0.3072:0.265	.	.	.	.	C	228	.	.	S	+	2	0	UTP15	72902222	1.000000	0.71417	0.989000	0.46669	0.653000	0.38743	1.360000	0.34125	0.406000	0.25560	-0.136000	0.14681	TCT		0.398	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		11	102	0	0	0	1	0	11	102					G	72866466	C	G	72866466	2	3	508	1	0	0	0	0	0	0	0	1	17094	900	32	4		4	UTP15	5	72866466	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	35881443	72866466	108048794	14	40423											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	8	1	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179	180	179					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	246	0	0	0	1	0	6	246					A	135390519	G	A	135390519	3	1	508	1	0	0	0	0	1	0	0	0	15817	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	62524053	135390519	45524741	15	40424											
FAT2	2196	broad.mit.edu	37	chr5	150932752	150932752	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcacctgagatgttgaacCagaagagtccgggtctgccc	11	13	2	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:150932752C>G	ENST00000261800.5	-	5	4154	c.4142G>C	c.(4141-4143)tGg>tCg	p.W1381S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1381	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)			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)			GATGTTGAACCAGAAGAGTCC	0.552																																						ENST00000261800.5																			0				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						c.(4141-4143)tGg>tCg		FAT atypical cadherin 2							89	85	86					5																	150932752		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150932752C>G	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.4142G>C	5.37:g.150932752C>G	ENSP00000261800:p.Trp1381Ser						p.W1381S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4154	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1381			Cadherin 12.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4142G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765452	0.69878	.	.	ENSG00000086570	ENST00000261800	T	0.46063	0.88	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000033	T	0.58821	0.2149	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.51537	-0.8693	10	0.12430	T	0.62	.	17.8145	0.88627	0.0:1.0:0.0:0.0	.	1381	Q9NYQ8	FAT2_HUMAN	S	1381	ENSP00000261800:W1381S	ENSP00000261800:W1381S	W	-	2	0	FAT2	150912945	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.542000	0.67218	2.453000	0.82957	0.561000	0.74099	TGG		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	43	0	0	0	1	0	27	43					G	150932752	C	G	150932752	3	3	508	1	0	0	0	0	1	0	0	0	5690	595	21	4	8983	4	FAT2	5	150932752	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	15542233	150932752	29982508	16	40425											
CPEB4	80315	broad.mit.edu	37	chr5	173380262	173380265	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													tgttcagctgcagcatggagAgatagataaacgggtaagcc							TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:173380262_173380265delAGAT	ENST00000265085.5	+	9	3403_3406	c.1949_1952delAGAT	c.(1948-1953)gagatafs	p.EI650fs	CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	650	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCATGGAGAGATAGATAAACGG	0.402																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1948-1953)gafs		cytoplasmic polyadenylation element binding protein 4																																				SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173380262_173380265delAGAT	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1949_1952delAGAT	5.37:g.173380266_173380269delAGAT	ENSP00000265085:p.Glu650fs					CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs	p.EI650fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		9	3403_3406	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	650			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	c.1949_1952delAGAT	CCDS4390.1																																																																																				0.402	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		20	83						20	83	---	---	---	---	-	173380265	AGAT	-	173380262	7	5	508	1	0	1	0	1	0	0	0	0	3803	304	11	0	1983	0	CPEB4	5	173380262	Frame_Shift_Del	DEL	AGAT	TCGA-W9-A837-01A-11D-A36O-08	22447510	173380262	7534998	17	40426											
SLC39A7	7922	broad.mit.edu	37	chr6	33169301	33169301	+	Frame_Shift_Del	DEL	C	C	-													gatttacaccatggccatagCcatggctactcccatgagag							TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:33169301delC	ENST00000374677.3	+	1	652	c.279delC	c.(277-279)agcfs	p.S93fs	RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	93	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGCCATAGCCATGGCTACT	0.552																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(277-279)agfs		solute carrier family 39 (zinc transporter), member 7							101	101	101					6																	33169301		2051	4206	6257	SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169301delC	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.279delC	6.37:g.33169301delC	ENSP00000363809:p.Ser93fs					SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs	p.S93fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			1	652	+			93			His-rich.		B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Del	DEL	ENST00000374677.3	37	c.279delC	CCDS43453.1																																																																																				0.552	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		35	44						35	44	---	---	---	---	-	33169301	C	-	33169301	7	5	508	1	0	1	0	1	0	0	0	0	14623	738	26	0	281	0	SLC39A7	6	33169301	Frame_Shift_Del	DEL	C	TCGA-W9-A837-01A-11D-A36O-08		33169301	137945766	18	40427											
LAMA4	3910	broad.mit.edu	37	chr6	112496653	112496653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggctaagttcatgctcttCcccataatagagcatcttgt	9	10	3	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:112496653C>T	ENST00000230538.7	-	11	1616	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	407	Domain II and I.				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)		TCATGCTCTTCCCCATAATAG	0.468																																						ENST00000230538.7																			0				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						c.(1219-1221)Gaa>Aaa		laminin, alpha 4							136	137	137					6																	112496653		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496653C>T		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.1219G>A	6.37:g.112496653C>T	ENSP00000230538:p.Glu407Lys					LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K	p.E407K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1616	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	407			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1219G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	7.055	0.565197	0.13498	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.71	2.0	0.26442	Laminin I (1);	0.489617	0.22041	N	0.065449	T	0.01905	0.0060	L	0.36672	1.1	0.09310	N	0.999994	B;B	0.32968	0.285;0.392	B;B	0.33846	0.171;0.142	T	0.47341	-0.9125	10	0.15952	T	0.53	.	8.431	0.32757	0.0:0.6202:0.0:0.3798	.	407;400	Q16363;Q16363-2	LAMA4_HUMAN;.	K	407;400;400;400	ENSP00000230538:E407K;ENSP00000429488:E400K;ENSP00000374114:E400K;ENSP00000416470:E400K	ENSP00000230538:E407K	E	-	1	0	LAMA4	112603346	0.103000	0.21917	0.108000	0.21378	0.743000	0.42351	0.616000	0.24344	0.366000	0.24427	0.655000	0.94253	GAA		0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		77	102	0	0	0	1	0	77	102					T	112496653	C	T	112496653	3	4	508	1	0	0	0	0	1	0	0	0	8608	864	30	2	4368	2	LAMA4	6	112496653	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	79327352	112496653	58618414	19	40428											
C6orf72	116254	broad.mit.edu	37	chr6	149900982	149900982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttcacaggttcagcaaaagGatgtcactgaaattgatatt	8	6	3	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:149900982G>T	ENST00000367419.5	+	5	563	c.442G>T	c.(442-444)Gat>Tat	p.D148Y		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	148						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCAGCAAAAGGATGTCACTGA	0.333																																						ENST00000367419.5																			0											c.(442-444)Gat>Tat		glycoprotein integral membrane 1							46	44	45					6																	149900982		2202	4299	6501	SO:0001583	missense	116254							g.chr6:149900982G>T	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.442G>T	6.37:g.149900982G>T	ENSP00000356389:p.Asp148Tyr						p.D148Y	NM_138785.3	NP_620140.1					5	563	+								B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.442G>T	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685729	0.68157	.	.	ENSG00000055211	ENST00000367423;ENST00000367419;ENST00000433539	.	.	.	5.77	3.97	0.46021	.	0.306858	0.34460	N	0.003945	T	0.35740	0.0942	L	0.47716	1.5	0.28395	N	0.918889	D;D	0.63880	0.993;0.993	P;P	0.61592	0.891;0.891	T	0.18023	-1.0350	8	.	.	.	-8.8154	10.2999	0.43646	0.1543:0.0:0.8457:0.0	.	148;148	A8K037;Q9NU53	.;CF072_HUMAN	Y	28;148;22	.	.	D	+	1	0	C6orf72	149942675	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.508000	0.45450	0.773000	0.33404	0.655000	0.94253	GAT		0.333	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		6	27	1	0	3.59834e-05	1	3.85536e-05	6	27					T	149900982	G	T	149900982	3	4	508	1	0	0	0	0	1	0	0	0	2371	1174	41	4	460	4	C6orf72	6	149900982	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	37404329	149900982	21214085	20	40429											
SAMD9L	219285	broad.mit.edu	37	chr7	92763468	92763468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtggaaatactgtggTttgttagttcatcttccatc	8	6	2	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:92763468T>C	ENST00000318238.4	-	5	3033	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	606					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATACTGTGGTTTGTTAGTTC	0.368																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1816-1818)aAc>aGc		sterile alpha motif domain containing 9-like							99	98	99					7																	92763468		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763468T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1817A>G	7.37:g.92763468T>C	ENSP00000326247:p.Asn606Ser					SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S	p.N606S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3033	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		606					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1817A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	2.151	-0.394482	0.04899	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.21734	1.99;1.99;1.99	4.86	3.71	0.42584	.	0.475155	0.21183	N	0.078782	T	0.15305	0.0369	L	0.36672	1.1	0.21740	N	0.999566	B	0.23806	0.091	B	0.22386	0.039	T	0.24440	-1.0160	10	0.16896	T	0.51	-5.5217	10.1754	0.42935	0.0:0.0797:0.0:0.9203	.	606	Q8IVG5	SAM9L_HUMAN	S	606	ENSP00000326247:N606S;ENSP00000405760:N606S;ENSP00000408796:N606S	ENSP00000326247:N606S	N	-	2	0	SAMD9L	92601404	0.000000	0.05858	0.973000	0.42090	0.689000	0.40095	0.634000	0.24614	0.885000	0.36088	0.383000	0.25322	AAC		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		4	128	0	0	0	1	0	4	128					C	92763468	T	C	92763468	3	2	508	1	0	0	0	0	1	0	0	0	13827	1725	60	3	2941	3	SAMD9L	7	92763468	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		92763468	66375195	21	40430											
SLC26A4	5172	broad.mit.edu	37	chr7	107350576	107350576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacattctttttgacggtcCatgatgctatactctatcta	5	10	3	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:107350576C>A	ENST00000265715.3	+	19	2391	c.2167C>A	c.(2167-2169)Cat>Aat	p.H723N	SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N|SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	723	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.		H -> R (in DFNB4 and PDS; common mutation in Korea and Japan; dbSNP:rs121908362). {ECO:0000269|PubMed:10190331, ECO:0000269|PubMed:12676893, ECO:0000269|PubMed:12974744, ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:9618166}.		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						TTTGACGGTCCATGATGCTAT	0.368									Pendred syndrome																													ENST00000265715.3																			0				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	GRCh37	CM086955	SLC26A4	M		c.(2167-2169)Cat>Aat		solute carrier family 26 (anion exchanger), member 4							124	114	117					7																	107350576		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350576C>A	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.2167C>A	7.37:g.107350576C>A	ENSP00000265715:p.His723Asn					SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N|SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N	p.H723N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			19	2391	+			723		H -> R (in DFNB4 and PDS; common mutation in Korea and Japan).	STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2167C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391907	0.83011	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.51	5.51	0.81932	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.81614	2.55	0.44890	D	0.997906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.96723	0.9534	10	0.59425	D	0.04	.	19.7828	0.96424	0.0:1.0:0.0:0.0	.	284;310;723	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	N	723;284;310;292	ENSP00000265715:H723N;ENSP00000439743:H284N;ENSP00000437427:H310N;ENSP00000441209:H292N	ENSP00000265715:H723N	H	+	1	0	SLC26A4	107137812	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	5.266000	0.65525	2.747000	0.94245	0.650000	0.86243	CAT		0.368	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		4	83	1	0	0.00909568	1	0.00909568	4	83					A	107350576	C	A	107350576	3	1	508	1	0	0	0	0	1	0	0	0	14519	594	21	4	2237	4	SLC26A4	7	107350576	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	14587108	107350576	51788087	22	40431											
SLC13A4	26266	broad.mit.edu	37	chr7	135378959	135378959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcccttttggtcttcttcttCttgctcagagagcaggtctc	8	12	6	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:135378959C>G	ENST00000354042.4	-	10	1733	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	348					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						TCTTCTTCTTCTTGCTCAGAG	0.393																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1042-1044)aaG>aaC		solute carrier family 13 (sodium/sulfate symporter), member 4							191	178	183					7																	135378959		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135378959C>G	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.1044G>C	7.37:g.135378959C>G	ENSP00000297282:p.Lys348Asn						p.K348N	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			10	1733	-			348					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1044G>C	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115551	0.77323	.	.	ENSG00000164707	ENST00000354042	T	0.70631	-0.5	5.5	4.43	0.53597	.	0.049055	0.85682	D	0.000000	T	0.72771	0.3502	L	0.41236	1.265	0.58432	D	0.999997	D;D	0.71674	0.998;0.984	P;P	0.60541	0.876;0.828	T	0.67887	-0.5554	10	0.25106	T	0.35	-15.5661	12.4688	0.55775	0.0:0.9052:0.0:0.0948	.	217;348	Q59HF0;Q9UKG4	.;S13A4_HUMAN	N	348	ENSP00000297282:K348N	ENSP00000297282:K348N	K	-	3	2	SLC13A4	135029499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.585000	0.53943	2.584000	0.87258	0.563000	0.77884	AAG		0.393	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		6	126	0	0	0	1	0	6	126					G	135378959	C	G	135378959	3	3	508	1	0	0	0	0	1	0	0	0	14394	912	32	4	864	4	SLC13A4	7	135378959	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	28028383	135378959	23759704	23	40432											
DENND3	22898	broad.mit.edu	37	chr8	142178542	142178542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcacatgcagctgggCgacttcatgaagcgggtcca	13	10	1	2	rs376076551		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr8:142178542C>T	ENST00000262585.2	+	13	2231	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	DENND3_ENST00000519811.1_Silent_p.G731G|DENND3_ENST00000424248.1_Silent_p.G599G	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	651					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGCTGGGCGACTTCATGA	0.587																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2191-2193)ggC>ggT		DENN/MADD domain containing 3		C		1,4405	2.1+/-5.4	0,1,2202	72	68	70		1953	-11.3	0.1	8		70	0,8600		0,0,4300	no	coding-synonymous	DENND3	NM_014957.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		651/1199	142178542	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142178542C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1953C>T	8.37:g.142178542C>T						DENND3_ENST00000424248.1_Silent_p.G599G|DENND3_ENST00000262585.2_Silent_p.G651G	p.G731G			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2263	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		651					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2193C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588183	0.03799	2.27E-4	0.0	ENSG00000105339	ENST00000518668	.	.	.	5.69	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.1572	6.0463	0.19762	0.082:0.0859:0.3205:0.5117	.	.	.	.	X	656	.	.	R	+	1	2	DENND3	142247724	0.022000	0.18835	0.083000	0.20561	0.072000	0.16883	-1.141000	0.03207	-2.205000	0.00742	-0.311000	0.09066	CGA		0.587	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		32	51	0	0	0	1	0	32	51					T	142178542	C	T	142178542	2	4	508	1	0	0	0	0	0	0	0	1	4432	755	27	1		1	DENND3	8	142178542	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		142178542	4185480	24	40433											
FLJ46321	389763	broad.mit.edu	37	chr9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgtctcctcacctgtcGtccaagaagggcaggggacc	11	15	2	1	rs370117363		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	994					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCACCTGTCGTCCAAGAAGG	0.502																																						ENST00000344803.2																			0											c.(2980-2982)Gtc>Atc		SPATA31 subfamily D, member 1		G	ILE/VAL	0,3878		0,0,1939	144	146	146		2980	-1.3	0	9		146	1,8279		0,1,4139	no	missense	FAM75D1	NM_001001670.2	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	benign	994/1577	84608365	1,12157	1939	4140	6079	SO:0001583	missense	389763							g.chr9:84608365G>A		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.2980G>A	9.37:g.84608365G>A	ENSP00000341988:p.Val994Ile						p.V994I	NM_001001670.2	NP_001001670.1					4	3027	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2980G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731644	0.15507	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.04917	3.53	2.45	-1.28	0.09318	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27500	0.08	T	0.43048	-0.9415	9	0.37606	T	0.19	.	2.3029	0.04167	0.3792:0.0:0.3883:0.2325	.	994	Q6ZQQ2	F75D1_HUMAN	I	994	ENSP00000341988:V994I	ENSP00000341988:V994I	V	+	1	0	FAM75D1	83798185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-0.276000	0.09206	-0.233000	0.12211	GTC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		73	99	0	0	0	1	0	73	99					A	84608365	G	A	84608365	3	1	508	1	0	0	0	0	1	0	0	0	5932	1145	40	1	2994	1	FLJ46321	9	84608365	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		84608365	56605066	25	40434											
C9orf79	286234	broad.mit.edu	37	chr9	90500387	90500387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatggcaaatcccagccaCggcatcttcccgaccacacc	6	19	1	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr9:90500387C>T	ENST00000325643.5	+	4	1051	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	329					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCCCAGCCACGGCATCTTCC	0.617																																						ENST00000325643.5																			0											c.(985-987)Cgg>Tgg		SPATA31 subfamily E, member 1							48	51	50					9																	90500387		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90500387C>T	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.985C>T	9.37:g.90500387C>T	ENSP00000322640:p.Arg329Trp						p.R329W	NM_178828.4	NP_849150.3					4	1051	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.985C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	8.046	0.764874	0.15914	.	.	ENSG00000177992	ENST00000325643	T	0.03553	3.89	2.19	0.153	0.14897	.	1.435330	0.04726	N	0.420210	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	B	0.24269	0.052	T	0.40059	-0.9583	10	0.72032	D	0.01	.	3.6275	0.08119	0.1779:0.3458:0.4763:0.0	.	329	Q6ZUB1	CI079_HUMAN	W	329	ENSP00000322640:R329W	ENSP00000322640:R329W	R	+	1	2	C9orf79	89690207	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.089000	0.15002	0.025000	0.15241	-0.310000	0.09108	CGG		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		15	11	0	0	0	1	0	15	11					T	90500387	C	T	90500387	3	4	508	1	0	0	0	0	1	0	0	0	2497	527	19	1	999	1	C9orf79	9	90500387	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	5892022	90500387	50713044	26	40435											
OR56A4	120793	broad.mit.edu	37	chr11	6024219	6024219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcattgctgggagatgCcatgtaaagtttcctgatca	12	7	2	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:6024219C>T	ENST00000330728.4	-	1	205	c.160G>A	c.(160-162)Gca>Aca	p.A54T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	2						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)		CTGGGAGATGCCATGTAAAGT	0.473																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(160-162)Gca>Aca		olfactory receptor, family 56, subfamily A, member 4							121	115	117					11																	6024219		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024219C>T	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.160G>A	11.37:g.6024219C>T	ENSP00000328215:p.Ala54Thr						p.A54T	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	205	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	2					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.160G>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579804	0.46006	.	.	ENSG00000183389	ENST00000330728	T	0.00590	6.36	3.43	0.426	0.16479	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.20403	N	0.999908	B	0.10296	0.003	B	0.08055	0.003	T	0.44997	-0.9291	9	0.49607	T	0.09	.	2.9258	0.05784	0.1962:0.4548:0.0:0.349	.	2	Q8NGH8	O56A4_HUMAN	T	54	ENSP00000328215:A54T	ENSP00000328215:A54T	A	-	1	0	OR56A4	5980795	0.012000	0.17670	0.129000	0.21949	0.841000	0.47740	-0.294000	0.08309	-0.021000	0.14009	0.555000	0.69702	GCA		0.473	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		20	35	0	0	0	1	0	20	35					T	6024219	C	T	6024219	3	4	508	1	0	0	0	0	1	0	0	0	11135	739	26	2	939	2	OR56A4	11	6024219	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		6024219	128982297	27	40436											
CAT	847	broad.mit.edu	37	chr11	34473715	34473715	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaactgggatctcgttggAaataacacccccattttctt	8	10	2	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:34473715A>G	ENST00000241052.4	+	4	530	c.441A>G	c.(439-441)ggA>ggG	p.G147G		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	147					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATCTCGTTGGAAATAACACCC	0.403																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(439-441)ggA>ggG		catalase	Fomepizole(DB01213)						110	108	109					11																	34473715		2202	4298	6500	SO:0001819	synonymous_variant	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34473715A>G	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.441A>G	11.37:g.34473715A>G							p.G147G	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	4	530	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	147					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	c.441A>G	CCDS7891.1																																																																																				0.403	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		26	58	0	0	0	1	0	26	58					G	34473715	A	G	34473715	2	3	508	1	0	0	0	0	0	0	0	1	2686	233	9	3		3	CAT	11	34473715	Silent	SNP	A	TCGA-W9-A837-01A-11D-A36O-08	28449496	34473715	100532801	28	40437											
RAB3IL1	5866	broad.mit.edu	37	chr11	61675752	61675752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagctgcaaggggcggcGggaggccctggtctggctgg	21	10	1	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:61675752G>T	ENST00000394836.2	-	2	195	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	13					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						AAGGGGCGGCGGGAGGCCCTG	0.677																																						ENST00000394836.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						c.(37-39)cCg>cAg		RAB3A interacting protein (rabin3)-like 1							6	7	6					11																	61675752		2129	4222	6351	SO:0001583	missense	5866						protein binding	g.chr11:61675752G>T	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.38C>A	11.37:g.61675752G>T	ENSP00000378313:p.Pro13Gln					RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q	p.P13Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN			2	195	-			13					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.38C>A	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088008	0.55968	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000531922	T;T;T	0.47869	1.49;1.42;0.83	4.87	3.88	0.44766	.	0.198828	0.33364	N	0.004993	T	0.51736	0.1692	L	0.47716	1.5	0.36729	D	0.881626	D;D	0.59767	0.977;0.986	P;P	0.55615	0.773;0.78	T	0.59773	-0.7391	10	0.52906	T	0.07	-11.4066	10.6197	0.45472	0.0:0.1949:0.8051:0.0	.	60;13	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	Q	13;60;60	ENSP00000378313:P13Q;ENSP00000301773:P60Q;ENSP00000435444:P60Q	ENSP00000301773:P60Q	P	-	2	0	RAB3IL1	61432328	0.035000	0.19736	0.936000	0.37596	0.779000	0.44077	0.089000	0.15002	2.421000	0.82119	0.561000	0.74099	CCG		0.677	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		5	7	1	0	8.12818e-05	1	8.50624e-05	5	7					T	61675752	G	T	61675752	3	4	508	1	0	0	0	0	1	0	0	0	12937	1116	39	4	1146	4	RAB3IL1	11	61675752	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	27202037	61675752	73330764	29	40438											
AHNAK	79026	broad.mit.edu	37	chr11	62300247	62300247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcaaggttccctctaGgtttggtgtctctatgtcca	10	11	3	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:62300247G>A	ENST00000378024.4	-	5	1916	c.1642C>T	c.(1642-1644)Cta>Tta	p.L548L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	548					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)				GTTCCCTCTAGGTTTGGTGTC	0.507																																						ENST00000378024.4																			0				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						c.(1642-1644)Cta>Tta		AHNAK nucleoprotein							98	106	104					11																	62300247		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62300247G>A	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.1642C>T	11.37:g.62300247G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L548L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1916	-		Melanoma(852;0.155)	548					A1A586	Silent	SNP	ENST00000378024.4	37	c.1642C>T	CCDS31584.1																																																																																				0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	172	0	0	0	1	0	8	172					A	62300247	G	A	62300247	2	1	508	1	0	0	0	0	0	0	0	1	414	991	35	2		2	AHNAK	11	62300247	Silent	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	624495	62300247	72706269	30	40439											
KLRC1	3821	broad.mit.edu	37	chr12	10601988	10601988	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatggccacaatgacgtgCtaaataaagatatgaattac	7	7	0	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:10601988C>A	ENST00000359151.3	-	5	519		c.e5-1		KLRC1_ENST00000408006.3_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000544822.1_Splice_Site	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1						cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAATGACGTGCTAAATAAAGA	0.333																																						ENST00000544822.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.e6-1		killer cell lectin-like receptor subfamily C, member 1							147	150	149					12																	10601988		2203	4300	6503	SO:0001630	splice_region_variant	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10601988C>A	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"Killer cell lectin-like receptors", "CD molecules"	6374	protein-coding gene	gene with protein product	"NKG2-1/B activating NK receptor"	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.338-1G>T	12.37:g.10601988C>A						KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000408006.3_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000359151.3_Splice_Site		NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN			6	725	-									Splice_Site	SNP	ENST00000359151.3	37		CCDS8625.1	.	.	.	.	.	.	.	.	.	.	c	5.252	0.231941	0.09969	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	.	.	.	4.46	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.36616	D	0.875503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7495	0.46200	0.0:0.8064:0.1936:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLRC1	10493255	0.044000	0.20184	0.036000	0.18154	0.009000	0.06853	0.703000	0.25646	0.974000	0.38366	0.563000	0.77884	.		0.333	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259	Intron	4	237	1	0	0.00909568	1	0.00909568	4	237					A	10601988	C	A	10601988	5	1	508	1	0	0	0	0	0	0	1	0	8415	811	28	4	376	4	KLRC1	12	10601988	Splice_Site	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		10601988	123249907	31	40440											
GPR133	283383	broad.mit.edu	37	chr12	131476803	131476803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcccacagatgcctaccatCccatcataaccaacctgaca	4	17	1	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:131476803C>A	ENST00000261654.5	+	8	1391	c.832C>A	c.(832-834)Ccc>Acc	p.P278T	GPR133_ENST00000535015.1_Missense_Mutation_p.P310T|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	278					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(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCCTACCATCCCATCATAAC	0.403																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(832-834)Ccc>Acc		G protein-coupled receptor 133							191	207	202					12																	131476803		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476803C>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.832C>A	12.37:g.131476803C>A	ENSP00000261654:p.Pro278Thr					RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.P310T	p.P278T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1391	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		278					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.832C>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567223	0.28003	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.57273	0.41;0.41	5.62	4.73	0.59995	.	0.063315	0.64402	D	0.000004	T	0.64768	0.2628	L	0.52011	1.625	0.80722	D	1	P;D	0.89917	0.839;1.0	P;D	0.79784	0.512;0.993	T	0.60581	-0.7235	10	0.33940	T	0.23	.	12.544	0.56188	0.0:0.8537:0.0:0.1463	.	310;278	B7ZLF7;Q6QNK2	.;GP133_HUMAN	T	278;218;310;37	ENSP00000261654:P278T;ENSP00000444425:P310T	ENSP00000261654:P278T	P	+	1	0	GPR133	130042756	0.386000	0.25180	0.390000	0.26220	0.035000	0.12851	2.151000	0.42263	0.751000	0.32900	-0.797000	0.03246	CCC		0.403	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		15	237	1	0	4.14922e-12	1	4.55402e-12	15	237					A	131476803	C	A	131476803	3	1	508	1	0	0	0	0	1	0	0	0	6643	855	30	4	862	4	GPR133	12	131476803	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	120874815	131476803	2375092	32	40441											
SNX6	58533	broad.mit.edu	37	chr14	35074873	35074873	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcaccaagcttctgTagtttttcccttgaagcatc	5	13	3	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr14:35074873T>C	ENST00000362031.4	-	5	387	c.357A>G	c.(355-357)ctA>ctG	p.L119L	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	107	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAAGCTTCTGTAGTTTTTCCC	0.363																																						ENST00000362031.4																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(355-357)ctA>ctG		sorting nexin 6							94	85	88					14																	35074873		2203	4300	6503	SO:0001819	synonymous_variant	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35074873T>C	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.357A>G	14.37:g.35074873T>C						SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	p.L119L	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	5	387	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		107			PX.		C0H5W9|Q9Y449	Silent	SNP	ENST00000362031.4	37	c.357A>G	CCDS41942.1																																																																																				0.363	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			6	56	0	0	0	1	0	6	56					C	35074873	T	C	35074873	2	2	508	1	0	0	0	0	0	0	0	1	14906	1625	57	3		3	SNX6	14	35074873	Silent	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		35074873	72274667	33	40442											
RTF1	23168	broad.mit.edu	37	chr15	41769448	41769448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaacgggcagaggcccTggaccgccagcggaccaaga	17	12	0	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr15:41769448T>A	ENST00000389629.4	+	13	1658	c.1646T>A	c.(1645-1647)cTg>cAg	p.L549Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	549					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)		GCAGAGGCCCTGGACCGCCAG	0.542																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1645-1647)cTg>cAg		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							117	127	124					15																	41769448		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41769448T>A	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.1646T>A	15.37:g.41769448T>A	ENSP00000374280:p.Leu549Gln						p.L549Q	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	13	1658	+		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)	549					Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1646T>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	T	31	5.093422	0.94149	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.75615	2.305	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.74206	-0.3740	9	0.22109	T	0.4	-10.1837	15.6278	0.76874	0.0:0.0:0.0:1.0	.	549	Q92541	RTF1_HUMAN	Q	549	.	ENSP00000374280:L549Q	L	+	2	0	RTF1	39556740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.504000	0.81646	2.280000	0.76307	0.460000	0.39030	CTG		0.542	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		14	125	0	0	0	1	0	14	125					A	41769448	T	A	41769448	3	1	508	1	0	0	0	0	1	0	0	0	13721	1580	55	5	1696	5	RTF1	15	41769448	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		41769448	60761944	34	40443											
TPSD1	23430	broad.mit.edu	37	chr16	1308192	1308192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccgcgatgacatgctgtGtgcggggagcgaaaatcacg	15	10	1	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1308192G>A	ENST00000211076.3	+	4	801	c.653G>A	c.(652-654)tGt>tAt	p.C218Y	TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y|RP11-616M22.5_ENST00000566997.1_RNA|PRSS29P_ENST00000568091.1_lincRNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GACATGCTGTGTGCGGGGAGC	0.627																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(652-654)tGt>tAt		tryptase delta 1							54	55	54					16																	1308192		2198	4299	6497	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1308192G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.653G>A	16.37:g.1308192G>A	ENSP00000211076:p.Cys218Tyr					TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y	p.C218Y	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			4	801	+		Hepatocellular(780;0.00369)	218			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.653G>A	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	N	18.64	3.668478	0.67814	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.89343	-2.5;-2.5	3.31	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000103	D	0.96787	0.8951	H	0.99454	4.575	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.97350	0.9963	10	0.87932	D	0	.	12.4326	0.55583	0.0:0.0:1.0:0.0	.	202;218	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	Y	211;218	ENSP00000380668:C211Y;ENSP00000211076:C218Y	ENSP00000211076:C218Y	C	+	2	0	TPSD1	1248193	1.000000	0.71417	0.984000	0.44739	0.083000	0.17756	5.224000	0.65288	1.537000	0.49254	0.478000	0.44815	TGT		0.627	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			10	28	0	0	0	1	0	10	28					A	1308192	G	A	1308192	3	1	508	1	0	0	0	0	1	0	0	0	16422	1377	48	2	667	2	TPSD1	16	1308192	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		1308192	89046561	35	40444											
TELO2	9894	broad.mit.edu	37	chr16	1545588	1545588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctcggcgaggaggtcGtccgggtgctgcaggcggtt	19	11	0	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1545588G>A	ENST00000262319.6	+	3	856	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	193					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGAGGAGGTCGTCCGGGTGCT	0.672																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(577-579)Gtc>Atc		telomere maintenance 2							51	52	52					16																	1545588		2198	4300	6498	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545588G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.577G>A	16.37:g.1545588G>A	ENSP00000262319:p.Val193Ile						p.V193I	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			3	856	+		Hepatocellular(780;0.219)	193					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.577G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	2.601	-0.292934	0.05568	.	.	ENSG00000100726	ENST00000262319	D	0.84070	-1.8	5.33	-8.16	0.01061	.	0.708276	0.13604	N	0.375640	T	0.61825	0.2378	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.53387	-0.8446	10	0.11794	T	0.64	-10.6845	9.3748	0.38277	0.315:0.4641:0.2209:0.0	.	193	Q9Y4R8	TELO2_HUMAN	I	193	ENSP00000262319:V193I	ENSP00000262319:V193I	V	+	1	0	TELO2	1485589	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.033000	0.03571	-0.990000	0.03481	-0.885000	0.02943	GTC		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		31	48	0	0	0	1	0	31	48					A	1545588	G	A	1545588	3	1	508	1	0	0	0	0	1	0	0	0	15754	1145	40	1	583	1	TELO2	16	1545588	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	237396	1545588	88809165	36	40445											
PLEKHG4	25894	broad.mit.edu	37	chr16	67316416	67316416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacaccaggacggcaatgGacaaggctgacgagctatat	11	11	0	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:67316416G>A	ENST00000360461.5	+	9	3799	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N	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	422							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)		GACGGCAATGGACAAGGCTGA	0.562																																						ENST00000360461.5																			0				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						c.(1264-1266)Gac>Aac		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							100	86	90					16																	67316416		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316416G>A	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.1264G>A	16.37:g.67316416G>A	ENSP00000353646:p.Asp422Asn					PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N	p.D422N	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	9	3799	+			422					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1264G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874003	0.51695	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10477	2.87;2.87;2.87;2.89	5.73	5.73	0.89815	.	0.000000	0.35124	N	0.003424	T	0.25457	0.0619	M	0.67953	2.075	0.29730	N	0.837943	D;D	0.63046	0.992;0.986	P;P	0.55923	0.787;0.617	T	0.03077	-1.1075	10	0.40728	T	0.16	.	15.4026	0.74852	0.0:0.0:1.0:0.0	.	341;422	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	N	422;422;422;341	ENSP00000353646:D422N;ENSP00000401118:D422N;ENSP00000368649:D422N;ENSP00000398030:D341N	ENSP00000353646:D422N	D	+	1	0	PLEKHG4	65873917	1.000000	0.71417	0.939000	0.37840	0.181000	0.23173	4.001000	0.57046	2.722000	0.93159	0.655000	0.94253	GAC		0.562	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		7	54	0	0	0	1	0	7	54					A	67316416	G	A	67316416	3	1	508	1	0	0	0	0	1	0	0	0	12071	1174	41	2	1298	2	PLEKHG4	16	67316416	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	65770828	67316416	23038337	37	40446											
MYH2	4620	broad.mit.edu	37	chr17	10435136	10435136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgatcttgaagaagagTttcatccagggccagtgctt	12	8	2	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10435136T>A	ENST00000245503.5	-	22	2895	c.2511A>T	c.(2509-2511)aaA>aaT	p.K837N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	837					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						TGAAGAAGAGTTTCATCCAGG	0.403																																						ENST00000245503.5																			0				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						c.(2509-2511)aaA>aaT		myosin, heavy chain 2, skeletal muscle, adult							111	107	108					17																	10435136		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435136T>A		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.2511A>T	17.37:g.10435136T>A	ENSP00000245503:p.Lys837Asn					MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	p.K837N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			22	2895	-			837					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2511A>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716315	0.30413	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.74526	-0.85;-0.85	4.84	0.179	0.15063	.	0.178185	0.26183	U	0.025851	T	0.70919	0.3279	M	0.77103	2.36	0.42940	D	0.994343	B	0.02656	0.0	B	0.10450	0.005	T	0.64110	-0.6484	10	0.51188	T	0.08	.	10.1535	0.42809	0.0:0.5758:0.0:0.4242	.	837	Q9UKX2	MYH2_HUMAN	N	837	ENSP00000245503:K837N;ENSP00000380367:K837N	ENSP00000245503:K837N	K	-	3	2	MYH2	10375861	0.983000	0.35010	0.967000	0.41034	0.623000	0.37688	0.229000	0.17833	-0.171000	0.10797	-0.254000	0.11334	AAA		0.403	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	158	0	0	0	1	0	5	158					A	10435136	T	A	10435136	3	1	508	1	0	0	0	0	1	0	0	0	10035	1722	60	5	3390	5	MYH2	17	10435136	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		10435136	70760074	38	40447											
TMEM220	388335	broad.mit.edu	37	chr17	10628335	10628335	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgtcaccgctcacctgccttCttcctcatgtaagatgttct	6	15	5	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10628335C>G	ENST00000341871.3	-	4	744	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	94						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CACCTGCCTTCTTCCTCATGT	0.473																																						ENST00000341871.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(280-282)Gaa>Caa		transmembrane protein 220							197	178	185					17																	10628335		2203	4300	6503	SO:0001583	missense	388335					integral to membrane		g.chr17:10628335C>G		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.280G>C	17.37:g.10628335C>G	ENSP00000339830:p.Glu94Gln					TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q|TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q	p.E94Q	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN			4	744	-			94					A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	37	c.280G>C	CCDS32567.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600718	0.46423	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	M	0.66939	2.045	0.50467	D	0.999874	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78790	-0.2066	9	0.66056	D	0.02	-10.8113	17.2904	0.87154	0.0:1.0:0.0:0.0	.	84;94	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	Q	94;84	.	ENSP00000339830:E94Q	E	-	1	0	TMEM220	10569060	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.970000	0.63742	2.820000	0.97059	0.650000	0.86243	GAA		0.473	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313		9	130	0	0	0	1	0	9	130					G	10628335	C	G	10628335	3	3	508	1	0	0	0	0	1	0	0	0	16141	922	32	4	214	4	TMEM220	17	10628335	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	193199	10628335	70566875	39	40448											
DNAH9	1770	broad.mit.edu	37	chr17	11584134	11584134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaagtgacactcctccGccagaggtgcacagccttcg	10	13	0	3	rs558363367		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11584134G>A	ENST00000262442.4	+	19	3739	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1224	Stem. {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)		ACACTCCTCCGCCAGAGGTGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.001		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				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						c.(3670-3672)cGc>cAc		dynein, axonemal, heavy chain 9							66	55	58					17																	11584134		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584134G>A	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.3671G>A	17.37:g.11584134G>A	ENSP00000262442:p.Arg1224His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H	p.R1224H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	19	3739	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1224			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3671G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175256	0.94807	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.24538	1.85;1.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65413	-0.6174	10	0.72032	D	0.01	.	19.4796	0.95003	0.0:0.0:1.0:0.0	.	1224	Q9NYC9	DYH9_HUMAN	H	1224	ENSP00000262442:R1224H;ENSP00000414874:R1224H	ENSP00000262442:R1224H	R	+	2	0	DNAH9	11524859	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.813000	0.99286	2.687000	0.91594	0.563000	0.77884	CGC		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	23	0	0	0	1	0	3	23					A	11584134	G	A	11584134	3	1	508	1	0	0	0	0	1	0	0	0	4608	1087	38	1	3745	1	DNAH9	17	11584134	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	955799	11584134	69611076	40	40449											
DNAH9	1770	broad.mit.edu	37	chr17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcatctatttcattgatgAcatgaacatgcctgaggtgg	9	8	3	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2546	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)		TTCATTGATGACATGAACATG	0.547																																						ENST00000262442.3																			0				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						c.(7636-7638)gAc>gGc		dynein, axonemal, heavy chain 9							64	54	58					17																	11684410		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684410A>G	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.7637A>G	17.37:g.11684410A>G	ENSP00000262442:p.Asp2546Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7705	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2546			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7637A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599729	0.87055	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);	0.135950	0.48286	D	0.000189	D	0.82674	0.5088	H	0.99689	4.705	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90686	0.4609	10	0.87932	D	0	.	15.1359	0.72566	1.0:0.0:0.0:0.0	.	2546	Q9NYC9	DYH9_HUMAN	G	2546;2546;1128	ENSP00000262442:D2546G;ENSP00000414874:D2546G	ENSP00000262442:D2546G	D	+	2	0	DNAH9	11625135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.244000	0.95423	2.043000	0.60533	0.519000	0.50382	GAC		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	40	0	0	0	1	0	4	40					G	11684410	A	G	11684410	3	3	508	1	0	0	0	0	1	0	0	0	4608	275	10	3	7791	3	DNAH9	17	11684410	Missense_Mutation	SNP	A	TCGA-W9-A837-01A-11D-A36O-08	100276	11684410	69510800	41	40450											
ABCA7	10347	broad.mit.edu	37	chr19	1057960	1057960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctccttcttcttctccGtgcccagcacagcctatgtg	7	17	3	0	rs141237099	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:1057960G>A	ENST00000263094.6	+	36	5158	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M	ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M|ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1643					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)		CTTCTTCTCCGTGCCCAGCAC	0.522													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17142	0.0		0.001	False		,,,				2504	0.0					ENST00000263094.6																			0				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						c.(4927-4929)Gtg>Atg		ATP-binding cassette, sub-family A (ABC1), member 7		G	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	161	145	151		4927	3.2	1	19	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCA7	NM_019112.3	21	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	1643/2147	1057960	4,13002	2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1057960G>A	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.4927G>A	19.37:g.1057960G>A	ENSP00000263094:p.Val1643Met					ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M|ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M	p.V1643M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		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)	36	5158	+		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)	1643					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4927G>A	CCDS12055.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	17.11	3.305414	0.60305	6.81E-4	1.16E-4	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.82893	-1.66;-1.66	4.22	3.17	0.36434	.	.	.	.	.	D	0.87026	0.6075	M	0.84773	2.715	0.27349	N	0.956292	D	0.89917	1.0	D	0.75484	0.986	T	0.78393	-0.2221	9	0.72032	D	0.01	.	6.1324	0.20213	0.3001:0.0:0.6999:0.0	.	1643	Q8IZY2	ABCA7_HUMAN	M	1643	ENSP00000263094:V1643M;ENSP00000414062:V1643M	ENSP00000263094:V1643M	V	+	1	0	ABCA7	1008960	0.911000	0.30947	0.995000	0.50966	0.969000	0.65631	1.426000	0.34870	0.975000	0.38392	0.561000	0.74099	GTG		0.522	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	142	0	0	0	1	0	4	142					A	1057960	G	A	1057960	3	1	508	1	0	0	0	0	1	0	0	0	37	1145	40	1	5065	1	ABCA7	19	1057960	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		1057960	58071023	42	40451											
CRTC1	23373	broad.mit.edu	37	chr19	18888093	18888093	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctggacgaactcaagatCgaccccctgaccctcgacgg	9	18	1	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:18888093C>T	ENST00000321949.8	+	14	1832	c.1806C>T	c.(1804-1806)atC>atT	p.I602I	CRTC1_ENST00000338797.6_Silent_p.I618I|CRTC1_ENST00000601916.1_Silent_p.I360I|CRTC1_ENST00000594658.1_Silent_p.I561I	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						AACTCAAGATCGACCCCCTGA	0.642																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1852-1854)atC>atT		CREB regulated transcription coactivator 1							190	203	199					19																	18888093		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888093C>T	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		ENST00000321949.8:c.1806C>T	19.37:g.18888093C>T						CRTC1_ENST00000594658.1_Silent_p.I561I|CRTC1_ENST00000321949.8_Silent_p.I602I|CRTC1_ENST00000601916.1_Silent_p.I360I	p.I618I	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1879	+			602						Silent	SNP	ENST00000321949.8	37	c.1854C>T	CCDS32963.1																																																																																				0.642	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		138	198	0	0	0	1	0	138	198					T	18888093	C	T	18888093	2	4	508	1	0	0	0	0	0	0	0	1	3899	874	31	1		1	CRTC1	19	18888093	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	17830133	18888093	40240890	43	40452											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285340	28285340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctgggcctgtgcacgctCgtgctgtgacctgccaggct	14	14	0	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:28285340C>T	ENST00000373894.3	+	8	1550	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	XKR8_ENST00000373884.5_5'Flank|SMPDL3B_ENST00000549094.1_Silent_p.L405L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	453				LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328). {ECO:0000305}.	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)		TGTGCACGCTCGTGCTGTGAC	0.652																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1357-1359)ctC>ctT		sphingomyelin phosphodiesterase, acid-like 3B							20	18	18					1																	28285340		2200	4294	6494	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285340C>T	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.1359C>T	1.37:g.28285340C>T						RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L405L	p.L453L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		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)	8	1550	+		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)	453	LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328).				B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1359C>T	CCDS30655.1																																																																																				0.652	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		5	11	0	0	0	1	0	5	11					T	28285340	C	T	28285340	2	4	509	1	0	0	0	0	0	0	0	1	14809	871	31	1		1	SMPDL3B	1	28285340	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		28285340	220965281	1	40453											
CELF3	11189	broad.mit.edu	37	chr1	151678361	151678361	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagatgacgtggccaaAggggacaaacatctggagga	16	7	1	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:151678361A>G	ENST00000290583.4	-	11	2000	c.1207T>C	c.(1207-1209)Ttt>Ctt	p.F403L	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.F198L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	403	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ACGTGGCCAAAGGGGACAAAC	0.493																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(1207-1209)Ttt>Ctt		CUGBP, Elav-like family member 3							108	104	106					1																	151678361		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151678361A>G	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"Trinucleotide (CAG) repeat containing", "RNA binding motif (RRM) containing"	11967	protein-coding gene	gene with protein product	"expanded repeat domain, CAG/CTG 4", "CAG repeat domain", "CUG-BP and ETR-3 like factor 3"	612678	"trinucleotide repeat containing 4"	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1207T>C	1.37:g.151678361A>G	ENSP00000290583:p.Phe403Leu					CELF3_ENST00000392706.3_Missense_Mutation_p.F198L|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|RP11-98D18.1_ENST00000457548.1_RNA	p.F403L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			11	2000	-			403			RRM 3.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.1207T>C	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	33	5.207922	0.95033	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706	T;T;T	0.42513	2.04;2.04;0.97	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	0.987;0.989;1.0;0.994;0.999	D;D;D;D;D	0.91635	0.962;0.945;0.999;0.991;0.994	T	0.68153	-0.5484	10	0.87932	D	0	-15.4485	12.7081	0.57073	1.0:0.0:0.0:0.0	.	198;353;402;403;402	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	L	353;403;198	ENSP00000290585:F353L;ENSP00000290583:F403L;ENSP00000376470:F198L	ENSP00000290583:F403L	F	-	1	0	CELF3	149944985	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.130000	0.94437	2.101000	0.63845	0.368000	0.22195	TTT		0.493	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		3	72	0	0	0	1	0	3	72					G	151678361	A	G	151678361	3	3	509	1	0	0	0	0	1	0	0	0	3217	72	3	3	198	3	CELF3	1	151678361	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	123393021	151678361	97572260	2	40454											
SEMA4A	64218	broad.mit.edu	37	chr1	156131199	156131199	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttcctgaaggcccagctGctctgcacccagccggggca	11	17	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:156131199G>T	ENST00000368285.3	+	9	1140	c.873G>T	c.(871-873)ctG>ctT	p.L291L	SEMA4A_ENST00000368286.2_Silent_p.L159L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000355014.2_Silent_p.L291L	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	291	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)					AGGCCCAGCTGCTCTGCACCC	0.672																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(871-873)ctG>ctT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							54	51	52					1																	156131199		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156131199G>T	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.873G>T	1.37:g.156131199G>T						SEMA4A_ENST00000368286.2_Silent_p.L159L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000355014.2_Silent_p.L291L	p.L291L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			9	1140	+	Hepatocellular(266;0.158)		291			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.873G>T	CCDS1132.1																																																																																				0.672	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		16	26	1	0	7.07596e-05	1	7.34811e-05	16	26					T	156131199	G	T	156131199	2	4	509	1	0	0	0	0	0	0	0	1	14031	1306	46	4		4	SEMA4A	1	156131199	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	4452838	156131199	93119422	3	40455											
DNMT3A	1788	broad.mit.edu	37	chr2	25470556	25470556	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacacaatgcggcctggCcaccaggagaagccccgcag	12	15	0	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:25470556C>T	ENST00000264709.3	-	8	1255	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	306	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)					TGCGGCCTGGCCACCAGGAGA	0.617			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				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						c.(916-918)tgG>tgA		DNA (cytosine-5-)-methyltransferase 3 alpha							71	75	74					2																	25470556		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470556C>T		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.918G>A	2.37:g.25470556C>T	ENSP00000264709:p.Trp306*					DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*	p.W306*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			8	1255	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		306			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.918G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.094610	0.98651	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0978	16.948	0.86235	0.0:1.0:0.0:0.0	.	.	.	.	X	117;306;306;83	.	ENSP00000264709:W306X	W	-	3	0	DNMT3A	25324060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.570000	0.82390	2.584000	0.87258	0.462000	0.41574	TGG		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		32	36	0	0	0	1	0	32	36					T	25470556	C	T	25470556	4	4	509	1	0	0	0	0	0	1	0	0	4676	740	26	2	1884	2	DNMT3A	2	25470556	Nonsense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		25470556	217728817	4	40456											
VIT	5212	broad.mit.edu	37	chr2	37035700	37035700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcctctggtgaagcGggtctgcgacactgaccgcc	13	15	2	2	rs373664967		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:37035700G>A	ENST00000389975.3	+	14	1732	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	VIT_ENST00000379242.3_Missense_Mutation_p.R492Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q|VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000401530.1_Missense_Mutation_p.R456Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	477	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)				CTGGTGAAGCGGGTCTGCGAC	0.612																																						ENST00000379242.3																			0				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						c.(1474-1476)cGg>cAg		vitrin		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	52	48	50		1430,1367,1364,1475	5.3	1	2		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	477/679,456/658,455/657,492/694	37035700	1,13005	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035700G>A	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.1430G>A	2.37:g.37035700G>A	ENSP00000374625:p.Arg477Gln					VIT_ENST00000401530.1_Missense_Mutation_p.R456Q|VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000389975.3_Missense_Mutation_p.R477Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q	p.R492Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1777	+		all_hematologic(82;0.248)	477					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1475G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543082	0.65198	0.0	1.16E-4	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.55930	0.49;0.49;1.14;0.49;0.49;1.14	5.26	5.26	0.73747	von Willebrand factor, type A (1);	0.056379	0.64402	D	0.000001	T	0.67487	0.2898	M	0.65975	2.015	0.52501	D	0.999953	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	T	0.63883	-0.6536	10	0.25751	T	0.34	-10.4879	12.2636	0.54665	0.0775:0.0:0.9225:0.0	.	456;455;477;492	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	Q	492;477;146;429;455;456	ENSP00000368544:R492Q;ENSP00000374625:R477Q;ENSP00000417874:R146Q;ENSP00000384154:R429Q;ENSP00000368543:R455Q;ENSP00000385658:R456Q	ENSP00000368543:R455Q	R	+	2	0	VIT	36889204	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	6.471000	0.73562	2.461000	0.83175	0.555000	0.69702	CGG		0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				17	23	0	0	0	1	0	17	23					A	37035700	G	A	37035700	3	1	509	1	0	0	0	0	1	0	0	0	17168	1116	39	1	1654	1	VIT	2	37035700	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	11565144	37035700	206163673	5	40457											
LYG2	254773	broad.mit.edu	37	chr2	99863226	99863226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcagccgtggtacaggCgtggatgtaggtgaggcttc	16	8	0	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:99863226C>T	ENST00000409238.1	-	2	121	c.101G>A	c.(100-102)cGc>cAc	p.R34H	LYG2_ENST00000333017.2_Missense_Mutation_p.R34H|LYG2_ENST00000423800.1_Missense_Mutation_p.R34H|LYG2_ENST00000409679.1_Missense_Mutation_p.R34H			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	34					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTGGTACAGGCGTGGATGTAG	0.512																																						ENST00000409679.1																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(100-102)cGc>cAc		lysozyme G-like 2							189	157	168					2																	99863226		2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99863226C>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.101G>A	2.37:g.99863226C>T	ENSP00000386939:p.Arg34His					LYG2_ENST00000333017.2_Missense_Mutation_p.R34H|LYG2_ENST00000409238.1_Missense_Mutation_p.R34H	p.R34H			Q86SG7	LYG2_HUMAN			3	245	-			34					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.101G>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	9.495	1.101661	0.20632	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.14	3.18	0.36537	.	0.121362	0.38111	N	0.001820	T	0.30727	0.0774	L	0.50919	1.6	0.27643	N	0.947651	B;B;B	0.22983	0.078;0.078;0.078	B;B;B	0.12837	0.008;0.008;0.008	T	0.11470	-1.0586	8	.	.	.	-0.8057	5.6393	0.17554	0.0:0.6881:0.2033:0.1086	.	34;34;34	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	H	34	.	.	R	-	2	0	LYG2	99229658	0.021000	0.18746	0.899000	0.35326	0.042000	0.13812	0.182000	0.16900	1.382000	0.46385	0.462000	0.41574	CGC		0.512	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		17	50	0	0	0	1	0	17	50					T	99863226	C	T	99863226	3	4	509	1	0	0	0	0	1	0	0	0	9105	768	27	1	553	1	LYG2	2	99863226	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	62827526	99863226	143336147	6	40458											
IL18R1	8809	broad.mit.edu	37	chr2	102992417	102992417	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaacccaacgataaagaaGaacgccgagtttgaagatca	8	8	1	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:102992417G>T	ENST00000409599.1	+	6	875	c.519G>T	c.(517-519)aaG>aaT	p.K173N	IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(517-519)aaG>aaT		interleukin 18 receptor 1							60	60	60					2																	102992417		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102992417G>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.519G>T	2.37:g.102992417G>T	ENSP00000387211:p.Lys173Asn					IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N	p.K173N			Q13478	IL18R_HUMAN			6	875	+			173			Ig-like C2-type 2.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.519G>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094238	0.36952	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.11277	2.79;2.79;2.79	4.9	3.06	0.35304	.	0.091238	0.47455	D	0.000234	T	0.17789	0.0427	L	0.45137	1.4	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.05435	-1.0885	10	0.25106	T	0.35	.	6.5942	0.22664	0.2144:0.0:0.7856:0.0	.	173;173	B7ZKV7;Q13478	.;IL18R_HUMAN	N	173	ENSP00000386663:K173N;ENSP00000387211:K173N;ENSP00000233957:K173N	ENSP00000233957:K173N	K	+	3	2	IL18R1	102358849	1.000000	0.71417	0.395000	0.26283	0.037000	0.13140	2.019000	0.41001	1.169000	0.42739	0.655000	0.94253	AAG		0.313	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		15	39	1	0	1.15088e-07	1	1.21858e-07	15	39					T	102992417	G	T	102992417	3	4	509	1	0	0	0	0	1	0	0	0	7647	933	33	4	533	4	IL18R1	2	102992417	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	3129191	102992417	140206956	7	40459											
RANBP2	5903	broad.mit.edu	37	chr2	109365547	109365547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattggaaacattgatgtacGagaaccagagcttgaagatt	10	5	0	5	rs544178123		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:109365547G>A	ENST00000283195.6	+	9	1361	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	412					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						ATTGATGTACGAGAACCAGAG	0.373													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.0					ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(1234-1236)cGa>cAa		RAN binding protein 2							232	239	237					2																	109365547		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365547G>A	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.1235G>A	2.37:g.109365547G>A	ENSP00000283195:p.Arg412Gln						p.R412Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1361	+			412					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1235G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	0.495	-0.873356	0.02570	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.4	1.75	0.24633	.	.	.	.	.	T	0.48874	0.1524	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46569	-0.9182	9	0.02654	T	1	-2.6924	8.5042	0.33177	0.7133:0.0:0.2867:0.0	.	412	P49792	RBP2_HUMAN	Q	412	ENSP00000283195:R412Q	ENSP00000283195:R412Q	R	+	2	0	RANBP2	108731979	0.056000	0.20664	0.009000	0.14445	0.675000	0.39556	1.192000	0.32150	0.111000	0.17947	-0.416000	0.06073	CGA		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		38	210	0	0	0	1	0	38	210					A	109365547	G	A	109365547	3	1	509	1	0	0	0	0	1	0	0	0	13028	1058	37	1	1269	1	RANBP2	2	109365547	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	6373130	109365547	133833826	8	40460											
MDH1B	130752	broad.mit.edu	37	chr2	207615788	207615788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatattaccccaaatgatcaCgtctttaatgtctgtgaaga	7	8	3	3	rs200965288		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:207615788C>T	ENST00000374412.3	-	6	1197	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	308					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAATGATCACGTCTTTAATG	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		16379	0.0		0.001	False		,,,				2504	0.0				Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(922-924)Gtg>Atg		malate dehydrogenase 1B, NAD (soluble)		C	MET/VAL	0,4406		0,0,2203	111	111	111		922	6	1	2		111	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MDH1B	NM_001039845.1	21	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	308/519	207615788	4,13002	2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615788C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.922G>A	2.37:g.207615788C>T	ENSP00000363533:p.Val308Met					MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M|MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M	p.V308M	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1197	-			308					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.922G>A	CCDS33365.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.9	4.074190	0.76415	0.0	4.65E-4	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.74209	-0.82;-0.82;-0.82	5.97	5.97	0.96955	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86125	0.5858	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	D	0.85345	0.1098	10	0.45353	T	0.12	-32.4823	16.6585	0.85235	0.0:0.8705:0.1295:0.0	.	308;308	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	308;210;308	ENSP00000363533:V308M;ENSP00000416577:V210M;ENSP00000389916:V308M	ENSP00000363533:V308M	V	-	1	0	MDH1B	207324033	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.113000	0.57851	2.836000	0.97738	0.655000	0.94253	GTG		0.323	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		17	34	0	0	0	1	0	17	34					T	207615788	C	T	207615788	3	4	509	1	0	0	0	0	1	0	0	0	9409	536	19	1	662	1	MDH1B	2	207615788	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	98250241	207615788	35583585	9	40461											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	44	0	0	0	1	0	27	44					T	209113112	C	T	209113112	3	4	509	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	1497324	209113112	34086261	10	40462											
CPNE9	151835	broad.mit.edu	37	chr3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccatgtctatcattatcGtcggtgtaggaccagccatg	10	11	2	0	rs566993609		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547																																						ENST00000383832.3																			2	Substitution - Missense(2)	p.V459I(2)	ovary(1)|prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1375-1377)Gtc>Atc		copine family member IX							122	117	119					3																	9768379		1927	4145	6072	SO:0001583	missense	151835							g.chr3:9768379G>A		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1375G>A	3.37:g.9768379G>A	ENSP00000373343:p.Val459Ile					CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			19	1565	+	Medulloblastoma(99;0.227)		459			VWFA.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1375G>A	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876822	0.72180	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.22945	1.93;1.93	4.4	4.4	0.53042	von Willebrand factor, type A (2);Copine (1);	0.064498	0.64402	D	0.000011	T	0.37489	0.1005	M	0.62723	1.935	0.53688	D	0.999976	P	0.43857	0.819	P	0.48304	0.573	T	0.21759	-1.0236	10	0.45353	T	0.12	.	16.7977	0.85606	0.0:0.0:1.0:0.0	.	459	Q8IYJ1	CPNE9_HUMAN	I	459	ENSP00000373343:V459I;ENSP00000373342:V459I	ENSP00000373342:V459I	V	+	1	0	CPNE9	9743379	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	6.831000	0.75324	2.257000	0.74773	0.460000	0.39030	GTC		0.547	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		23	54	0	0	0	1	0	23	54					A	9768379	G	A	9768379	3	1	509	1	0	0	0	0	1	0	0	0	3819	1145	40	1	1445	1	CPNE9	3	9768379	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		9768379	188254051	11	40463											
TNIK	23043	broad.mit.edu	37	chr3	170928956	170928956	+	Frame_Shift_Del	DEL	G	G	-													tttttgataaaagcaccataGtatgtagcaatattccggtg							TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:170928956delG	ENST00000436636.2	-	4	599	c.255delC	c.(253-255)tacfs	p.Y86fs	TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			AAGCACCATAGTATGTAGCAA	0.338																																						ENST00000436636.2																			0				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						c.(253-255)tafs		TRAF2 and NCK interacting kinase							125	122	123					3																	170928956		1831	4092	5923	SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170928956delG	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.255delC	3.37:g.170928956delG	ENSP00000399511:p.Tyr86fs					TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs	p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		4	599	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		86			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.255delC	CCDS46956.1																																																																																				0.338	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		17	30						17	30	---	---	---	---	-	170928956	G	-	170928956	7	5	509	1	0	1	0	1	0	0	0	0	16310	1024	36	0	3947	0	TNIK	3	170928956	Frame_Shift_Del	DEL	G	TCGA-WH-A86K-01A-11D-A36O-08	161160577	170928956	27093474	12	40464											
HMGCS1	3157	broad.mit.edu	37	chr5	43298628	43298628	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	catgtaacataccatcccaaGagctggactcaatccagtta	6	12	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr5:43298628G>C	ENST00000325110.6	-	3	646	c.440C>G	c.(439-441)tCt>tGt	p.S147C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	147					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCATCCCAAGAGCTGGACTC	0.428																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(439-441)tCt>tGt		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							95	88	90					5																	43298628		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43298628G>C		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"	142940	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.440C>G	5.37:g.43298628G>C	ENSP00000322706:p.Ser147Cys					HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			3	646	-			147					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.440C>G	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586008	0.86748	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.89415	-2.51;-2.51	5.93	5.06	0.68205	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.96125	0.8737	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.97401	0.9996	10	0.87932	D	0	-7.701	16.5635	0.84573	0.0:0.0:0.8685:0.1315	.	147	Q01581	HMCS1_HUMAN	C	147;147;136	ENSP00000322706:S147C;ENSP00000399402:S147C	ENSP00000322706:S147C	S	-	2	0	HMGCS1	43334385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.630000	0.83225	1.493000	0.48517	0.655000	0.94253	TCT		0.428	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			4	57	0	0	0	1	0	4	57					C	43298628	G	C	43298628	3	2	509	1	0	0	0	0	1	0	0	0	7232	942	33	4	1158	4	HMGCS1	5	43298628	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		43298628	137616632	13	40465											
DSP	1832	broad.mit.edu	37	chr6	7581050	7581050	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacgcctgaggatcgactatGaaagggtttcccaggagagg	14	9	0	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:7581050G>T	ENST00000379802.3	+	23	4968	c.4627G>T	c.(4627-4629)Gaa>Taa	p.E1543*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1543	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)		GATCGACTATGAAAGGGTTTC	0.507																																						ENST00000379802.3																			0				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						c.(4627-4629)Gaa>Taa		desmoplakin							111	114	113					6																	7581050		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581050G>T	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.4627G>T	6.37:g.7581050G>T	ENSP00000369129:p.Glu1543*					DSP_ENST00000418664.2_Intron	p.E1543*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4968	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1543			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.4627G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	46	12.733671	0.99692	.	.	ENSG00000096696	ENST00000379802	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.1562	0.98114	0.0:0.0:1.0:0.0	.	.	.	.	X	1543	.	ENSP00000369129:E1543X	E	+	1	0	DSP	7526049	1.000000	0.71417	0.724000	0.30704	0.969000	0.65631	5.470000	0.66756	2.772000	0.95346	0.655000	0.94253	GAA		0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		33	53	1	0	9.45814e-24	1	1.02148e-23	33	53					T	7581050	G	T	7581050	4	4	509	1	0	0	0	0	0	1	0	0	4781	1291	45	4	4717	4	DSP	6	7581050	Nonsense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		7581050	163534017	14	40466											
TRIM38	10475	broad.mit.edu	37	chr6	25967064	25967064	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccacctgttctgcgAagacgaggggcagctcatct	12	12	3	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:25967064A>T	ENST00000357085.3	+	3	790	c.314A>T	c.(313-315)gAa>gTa	p.E105V	TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	105					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						CTGTTCTGCGAAGACGAGGGG	0.562																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(313-315)gAa>gTa		tripartite motif containing 38							62	59	60					6																	25967064		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25967064A>T	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.314A>T	6.37:g.25967064A>T	ENSP00000349596:p.Glu105Val					TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			3	790	+			105					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.314A>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	17.51	3.407649	0.62399	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.46063	0.88;0.88;0.88	4.37	3.17	0.36434	Zinc finger, B-box (3);	0.000000	0.41712	D	0.000834	T	0.46580	0.1400	M	0.73319	2.225	0.33366	D	0.572932	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.72032	D	0.01	.	6.998	0.24793	0.8961:0.0:0.1039:0.0	.	105;105	B2R862;O00635	.;TRI38_HUMAN	V	105	ENSP00000443976:E105V;ENSP00000230099:E105V;ENSP00000349596:E105V	ENSP00000230099:E105V	E	+	2	0	TRIM38	26075043	0.963000	0.33076	0.580000	0.28601	0.734000	0.41952	4.390000	0.59646	0.963000	0.38082	0.477000	0.44152	GAA		0.562	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			18	21	0	0	0	1	0	18	21					T	25967064	A	T	25967064	3	4	509	1	0	0	0	0	1	0	0	0	16509	246	9	5	316	5	TRIM38	6	25967064	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	18386014	25967064	145148003	15	40467											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247132	26247132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtaatgccctgaatattaTcgctcagtaccttgcgatgg	10	9	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:26247132T>C	ENST00000244537.4	-	1	127	c.74A>G	c.(73-75)gAt>gGt	p.D25G		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	25						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGAATATTATCGCTCAGTAC	0.547																																						ENST00000244537.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(73-75)gAt>gGt		histone cluster 1, H4g							55	51	52					6																	26247132		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247132T>C	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"Histones / Replication-dependent"	4792	protein-coding gene	gene with protein product		602832	"H4 histone family, member L", "histone 1, H4g"	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.74A>G	6.37:g.26247132T>C	ENSP00000244537:p.Asp25Gly						p.D25G	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	127	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	25						Missense_Mutation	SNP	ENST00000244537.4	37	c.74A>G	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	8.251	0.809106	0.16537	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	3.2	0.36748	Histone-fold (2);	.	.	.	.	T	0.44477	0.1295	.	.	.	0.36617	D	0.875558	B	0.22541	0.071	B	0.33690	0.168	T	0.52801	-0.8527	7	0.56958	D	0.05	.	11.4847	0.50346	0.0:0.0:0.0:1.0	.	25	Q99525	H4G_HUMAN	G	25	.	ENSP00000244537:D25G	D	-	2	0	HIST1H4G	26355111	1.000000	0.71417	0.860000	0.33809	0.002000	0.02628	5.547000	0.67249	1.444000	0.47605	0.321000	0.21382	GAT		0.547	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		14	29	0	0	0	1	0	14	29					C	26247132	T	C	26247132	3	2	509	1	0	0	0	0	1	0	0	0	7171	1435	50	3	226	3	HIST1H4G	6	26247132	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	280068	26247132	144867935	16	40468											
MICA	100507436	broad.mit.edu	37	chr6	31379100	31379100	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctgcaggaactacggCgatatctagaatccggcgta	11	11	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:31379100C>T	ENST00000449934.2	+	3	631	c.577C>T	c.(577-579)Cga>Tga	p.R193*	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAACTACGGCGATATCTAGA	0.542																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(577-579)Cga>Tga		MHC class I polypeptide-related sequence A							110	96	100					6																	31379100		692	1591	2283	SO:0001587	stop_gained	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31379100C>T	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.577C>T	6.37:g.31379100C>T	ENSP00000413079:p.Arg193*					HCP5_ENST00000414046.2_RNA	p.R193*	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			3	631	+		Ovarian(999;0.0253)	193						Nonsense_Mutation	SNP	ENST00000449934.2	37	c.577C>T	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	43	9.941713	0.99300	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	.	.	.	1.31	0.0144	0.14100	.	6.058300	0.00695	N	0.000746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5056	0.11885	0.511:0.489:0.0:0.0	.	.	.	.	X	55;193;150;193	.	ENSP00000365394:R193X	R	+	1	2	MICA	31487079	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.081000	0.01367	0.004000	0.14682	0.306000	0.20318	CGA		0.542	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	7	0	0	0	1	0	3	7					T	31379100	C	T	31379100	4	4	509	1	0	0	0	0	0	1	0	0	9568	760	27	1	587	1	MICA	6	31379100	Nonsense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	5131968	31379100	139735967	17	40469											
C6orf138	442213	broad.mit.edu	37	chr6	47846506	47846506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctcaattgaggtgaCgctaagaattagccagaagt	11	9	1	4	rs528776718		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:47846506C>T	ENST00000339488.4	-	3	2107	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	692						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.0		0.001	False		,,,				2504	0.0					ENST00000339488.4																			3	Substitution - Missense(3)	p.V692L(2)|p.V692I(1)	lung(3)								c.(2074-2076)Gtc>Atc		patched domain containing 4							84	81	82					6																	47846506		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846506C>T		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.2074G>A	6.37:g.47846506C>T	ENSP00000341914:p.Val692Ile						p.V692I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2107	-			692					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2074G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424140	0.43020	.	.	ENSG00000244694	ENST00000339488	D	0.82711	-1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	L	0.38175	1.15	0.80722	D	1	P	0.46277	0.875	P	0.50490	0.642	T	0.72855	-0.4166	10	0.06625	T	0.88	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	692	Q6ZW05	CF138_HUMAN	I	692	ENSP00000341914:V692I	ENSP00000341914:V692I	V	-	1	0	C6orf138	47954465	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.686000	0.61700	2.814000	0.96858	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	22	0	0	0	1	0	3	22					T	47846506	C	T	47846506	3	4	509	1	0	0	0	0	1	0	0	0	2332	536	19	1	470	1	C6orf138	6	47846506	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	16467406	47846506	123268561	18	40470											
CCT6A	908	broad.mit.edu	37	chr7	56127963	56127967	+	Splice_Site	DEL	GAGAA	GAGAA	-													atattttttctacacataggGagaagagaagtttaccttta							TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:56127963_56127967delGAGAA	ENST00000275603.4	+	10	1286_1290	c.1067_1071delGAGAA	c.(1066-1071)ggagaa>g	p.GE356fs	CCT6A_ENST00000335503.3_Splice_Site_p.GE311fs|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Splice_Site_p.GE325fs	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	356					'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)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACACATAGGGAGAAGAGAAGTTTA	0.361																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.e10-1		chaperonin containing TCP1, subunit 6A (zeta 1)																																				SO:0001630	splice_region_variant	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127963_56127967delGAGAA	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1066-1GAGAA>-	7.37:g.56127968_56127972delGAGAA						CCT6A_ENST00000540286.1_Splice_Site_p.GE325_splice|CCT6A_ENST00000335503.3_Splice_Site_p.GE311_splice	p.GE356_splice	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	1286_1290	+	Breast(14;0.214)		356					A6NCD2|Q3KP28|Q75LP4|Q96S46	Splice_Site	DEL	ENST00000275603.4	37	c.1065_splice	CCDS5523.1																																																																																				0.361	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	Frame_Shift_Del	11	37						11	37	---	---	---	---	-	56127967	GAGAA	-	56127963	8	5	509	1	0	1	0	1	0	0	1	0	2957	1188	41	0	1105	0	CCT6A	7	56127963	Splice_Site	DEL	GAGAA	TCGA-WH-A86K-01A-11D-A36O-08		56127963	103010700	19	40471											
CLIP2	7461	broad.mit.edu	37	chr7	73768332	73768332	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggggcggtggcgggcacCaggtatggtgggcttcttct	19	8	2	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:73768332C>A	ENST00000395060.1	+	3	801	c.801C>A	c.(799-801)acC>acA	p.T267T	CLIP2_ENST00000223398.6_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	267	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCACCAGGTATGGTG	0.647																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(799-801)acC>acA		CAP-GLY domain containing linker protein 2							80	83	82					7																	73768332		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73768332C>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.801C>A	7.37:g.73768332C>A						CLIP2_ENST00000395060.1_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T	p.T267T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			4	1128	+			267			CAP-Gly 2.		O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.801C>A	CCDS5569.1																																																																																				0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		47	63	1	0	3.21987e-24	1	3.54843e-24	47	63					A	73768332	C	A	73768332	2	1	509	1	0	0	0	0	0	0	0	1	3533	581	21	4		4	CLIP2	7	73768332	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	17640369	73768332	85370331	20	40472											
XKR4	114786	broad.mit.edu	37	chr8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctttctagatatttcCacacaatatacttaggtatt	4	7	2	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:56270245C>T	ENST00000327381.6	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	272						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)			TAGATATTTCCACACAATATA	0.383																																						ENST00000327381.5																			0				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						c.(814-816)Cac>Tac		XK, Kell blood group complex subunit-related family, member 4							106	103	104					8																	56270245		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270245C>T	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.814C>T	8.37:g.56270245C>T	ENSP00000328326:p.His272Tyr						p.H272Y	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	914	+			272					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.814C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434886	0.83885	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63744	-0.06	5.87	5.87	0.94306	.	0.101796	0.64402	D	0.000003	T	0.73071	0.3540	L	0.58101	1.795	0.58432	D	0.999997	D	0.65815	0.995	P	0.56865	0.808	T	0.67887	-0.5554	10	0.30854	T	0.27	-14.4055	20.2032	0.98269	0.0:1.0:0.0:0.0	.	272	Q5GH76	XKR4_HUMAN	Y	272	ENSP00000328326:H272Y	ENSP00000328326:H272Y	H	+	1	0	XKR4	56432799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.785000	0.95823	0.650000	0.86243	CAC		0.383	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		5	44	0	0	0	1	0	5	44					T	56270245	C	T	56270245	3	4	509	1	0	0	0	0	1	0	0	0	17430	594	21	2	820	2	XKR4	8	56270245	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		56270245	90093777	21	40473											
CYP7B1	9420	broad.mit.edu	37	chr8	65527680	65527680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaaacggtcaatttcGtcacgcactgctgccatagc	9	13	2	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:65527680G>A	ENST00000310193.3	-	4	1133	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	320					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.D320D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTCAATTTCGTCACGCACTG	0.488																																						ENST00000310193.3																			2	Substitution - coding silent(2)	p.D320D(2)	large_intestine(1)|lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(958-960)gaC>gaT		cytochrome P450, family 7, subfamily B, polypeptide 1							105	97	100					8																	65527680		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65527680G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.960C>T	8.37:g.65527680G>A						CYP7B1_ENST00000523954.1_5'UTR	p.D320D	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			4	1133	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	320					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.960C>T	CCDS6180.1																																																																																				0.488	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			19	28	0	0	0	1	0	19	28					A	65527680	G	A	65527680	2	1	509	1	0	0	0	0	0	0	0	1	4197	1136	40	1		1	CYP7B1	8	65527680	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	9257435	65527680	80836342	22	40474											
ARFGEF1	10565	broad.mit.edu	37	chr8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatcgaatgttagcagcttGagaattaaccatctgtgcta	9	7	1	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					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)			TTAGCAGCTTGAGAATTAACC	0.363																																						ENST00000262215.3																			0				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						c.(3799-3801)Caa>Gaa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							143	142	142					8																	68139489		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68139489G>C	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.3799C>G	8.37:g.68139489G>C	ENSP00000262215:p.Gln1267Glu					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	p.Q1267E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		27	4188	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1267					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3799C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961446	0.92791	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T	0.65178	-0.14;-0.08;-0.1	5.56	5.56	0.83823	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	M	0.85373	2.75	0.80722	D	1	D;P;P	0.69078	0.997;0.949;0.949	D;P;P	0.71414	0.973;0.78;0.78	D	0.84363	0.0539	10	0.72032	D	0.01	.	19.5224	0.95190	0.0:0.0:1.0:0.0	.	1267;745;721	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	E	721;1267;105;116	ENSP00000428429:Q721E;ENSP00000262215:Q1267E;ENSP00000430891:Q105E	ENSP00000262215:Q1267E	Q	-	1	0	ARFGEF1	68302043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.611000	0.88343	0.585000	0.79938	CAA		0.363	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		35	63	0	0	0	1	0	35	63					C	68139489	G	C	68139489	3	2	509	1	0	0	0	0	1	0	0	0	852	1299	45	4	1802	4	ARFGEF1	8	68139489	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	2611809	68139489	78224533	23	40475											
SOHLH1	402381	broad.mit.edu	37	chr9	138589409	138589409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgcttgaatctgactcGacaacgtcaactgtaaaaca	6	12	2	2	rs377353048		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr9:138589409G>A	ENST00000298466.5	-	4	470	c.410C>T	c.(409-411)tCg>tTg	p.S137L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	137					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)		AATCTGACTCGACAACGTCAA	0.527																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(409-411)tCg>tTg		spermatogenesis and oogenesis specific basic helix-loop-helix 1		G	LEU/SER,LEU/SER	0,4404		0,0,2202	79	66	70		410,410	-0.6	0	9		70	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SOHLH1	NM_001012415.2,NM_001101677.1	145,145	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	137/329,137/388	138589409	2,13002	2202	4300	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138589409G>A	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.410C>T	9.37:g.138589409G>A	ENSP00000298466:p.Ser137Leu					SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	p.S137L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	4	470	-		Myeloproliferative disorder(178;0.0511)	137					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.410C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755437	0.49362	0.0	2.33E-4	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.33216	1.42;1.44	3.84	-0.592	0.11671	Helix-loop-helix DNA-binding (1);	1.167130	0.06994	N	0.822044	T	0.17365	0.0417	N	0.25647	0.755	0.09310	N	1	B;B	0.27971	0.196;0.124	B;B	0.16722	0.016;0.005	T	0.25572	-1.0128	10	0.48119	T	0.1	-10.3269	2.4972	0.04624	0.1139:0.3754:0.3385:0.1722	.	137;137	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	137	ENSP00000298466:S137L;ENSP00000404438:S137L	ENSP00000298466:S137L	S	-	2	0	SOHLH1	137729230	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.548000	0.06048	0.033000	0.15463	0.561000	0.74099	TCG		0.527	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		5	22	0	0	0	1	0	5	22					A	138589409	G	A	138589409	3	1	509	1	0	0	0	0	1	0	0	0	14923	1059	37	1	814	1	SOHLH1	9	138589409	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		138589409	2624022	24	40476											
DUSP13	51207	broad.mit.edu	37	chr10	76854454	76854454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaccgccccgtctcccGccccagtcggttgtccagaa	9	18	2	2	rs141915692	byFrequency	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:76854454G>A	ENST00000472493.2	-	4	655	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	DUSP13_ENST00000491677.2_Missense_Mutation_p.R322W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	193					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCGTCTCCCGCCCCAGTCGG	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17126	0.0		0.0	False		,,,				2504	0.0				NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(964-966)Cgg>Tgg		dual specificity phosphatase 13							40	40	40					10																	76854454		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854454G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.577C>T	10.37:g.76854454G>A	ENSP00000444580:p.Arg193Trp					DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000472493.2_Missense_Mutation_p.R193W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000372702.3_3'UTR	p.R322W	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1506	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		0					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.964C>T	CCDS7346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.15	3.771022	0.69992	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.09255	3.58;3.58;3.41;3.0;3.56	5.52	4.61	0.57282	.	0.237986	0.43110	D	0.000611	T	0.19208	0.0461	M	0.71036	2.16	0.41210	D	0.986432	D;D;D	0.71674	0.981;0.998;0.982	B;P;B	0.46796	0.364;0.527;0.295	T	0.02829	-1.1105	10	0.72032	D	0.01	-3.8424	13.7169	0.62702	0.0:0.0:0.663:0.3369	.	243;322;193	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	W	193;193;322;286;142;243	ENSP00000311051:R193W;ENSP00000444580:R193W;ENSP00000436312:R322W;ENSP00000434041:R142W;ENSP00000361785:R243W	ENSP00000311051:R193W	R	-	1	2	DUSP13	76524460	0.002000	0.14202	1.000000	0.80357	0.823000	0.46562	0.625000	0.24477	1.305000	0.44909	-0.181000	0.13052	CGG		0.647	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			14	20	0	0	0	1	0	14	20					A	76854454	G	A	76854454	3	1	509	1	0	0	0	0	1	0	0	0	4813	1086	38	1	23	1	DUSP13	10	76854454	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		76854454	58680293	25	40477											
FAM35A	54537	broad.mit.edu	37	chr10	88950272	88950272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatcacctatgggatggtCgtggcagacctgttccactc	12	11	1	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:88950272C>T	ENST00000298784.1	+	9	2454	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	FAM35A_ENST00000298786.4_Silent_p.V849V	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	780										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGGGATGGTCGTGGCAGACC	0.463																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2545-2547)gtC>gtT		family with sequence similarity 35, member A							165	156	159					10																	88950272		2203	4300	6503	SO:0001819	synonymous_variant	54537							g.chr10:88950272C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2340C>T	10.37:g.88950272C>T						FAM35A_ENST00000298784.1_Silent_p.V780V	p.V849V			Q86V20	FA35A_HUMAN			10	2661	+			780					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2547C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433515	0.25813	.	.	ENSG00000122376	ENST00000342900	.	.	.	2.61	-5.23	0.02798	.	.	.	.	.	T	0.37237	0.0996	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35773	-0.9775	4	.	.	.	-0.1273	1.7475	0.02965	0.1531:0.1495:0.4001:0.2974	.	.	.	.	C	504	.	.	R	+	1	0	FAM35A	88940252	0.001000	0.12720	0.091000	0.20842	0.706000	0.40770	-2.216000	0.01221	-1.201000	0.02659	0.194000	0.17425	CGT		0.463	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		28	75	0	0	0	1	0	28	75					T	88950272	C	T	88950272	2	4	509	1	0	0	0	0	0	0	0	1	5553	871	31	1		1	FAM35A	10	88950272	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	12095818	88950272	46584475	26	40478											
FRG2B	441581	broad.mit.edu	37	chr10	135440109	135440109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactggaatgggagaaggcGgtcttgcctttttctttgaa	12	7	3	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:135440109G>A	ENST00000425520.1	-	1	190	c.138C>T	c.(136-138)acC>acT	p.T46T	FRG2B_ENST00000443774.1_Silent_p.T46T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	46						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGAGAAGGCGGTCTTGCCTT	0.507																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(136-138)acC>acT		FSHD region gene 2 family, member B							21	24	23					10																	135440109		2137	4240	6377	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135440109G>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.138C>T	10.37:g.135440109G>A						FRG2B_ENST00000425520.1_Silent_p.T46T	p.T46T			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	187	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	46					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.138C>T	CCDS44502.1																																																																																				0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		22	32	0	0	0	1	0	22	32					A	135440109	G	A	135440109	2	1	509	1	0	0	0	0	0	0	0	1	6047	1103	39	1		1	FRG2B	10	135440109	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	46489837	135440109	94638	27	40479											
KRT1	3848	broad.mit.edu	37	chr12	53069171	53069171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcccccactgctgcttcCggagccgtagctgccatggc	12	16	0	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:53069171C>T	ENST00000252244.3	-	9	1799	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	581	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgctgcttccggagccgtag	0.726																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1741-1743)Gga>Aga		keratin 1							5	7	7					12																	53069171		1730	3608	5338	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069171C>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1741G>A	12.37:g.53069171C>T	ENSP00000252244:p.Gly581Arg						p.G581R	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1799	-			581			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1741G>A	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300801	0.23650	.	.	ENSG00000167768	ENST00000252244	D	0.90900	-2.75	4.45	2.58	0.30949	.	.	.	.	.	T	0.77096	0.4080	N	0.08118	0	0.09310	N	1	B	0.29590	0.25	B	0.21546	0.035	T	0.67791	-0.5579	9	0.49607	T	0.09	.	4.8911	0.13728	0.0:0.5296:0.1556:0.3148	.	581	P04264	K2C1_HUMAN	R	581	ENSP00000252244:G581R	ENSP00000252244:G581R	G	-	1	0	KRT1	51355438	0.000000	0.05858	0.344000	0.25628	0.428000	0.31595	-0.221000	0.09202	1.002000	0.39104	0.462000	0.41574	GGA		0.726	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		5	7	0	0	0	1	0	5	7					T	53069171	C	T	53069171	3	4	509	1	0	0	0	0	1	0	0	0	8447	661	23	1	197	1	KRT1	12	53069171	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		53069171	80782724	28	40480											
POTEM	641455	broad.mit.edu	37	chr14	20019849	20019849	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatgaaagcgctgtcGtcgtagtctccccaggggcc	13	14	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:20019849G>A	ENST00000551509.1	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	124										endometrium(4)|kidney(1)|lung(4)	9						AAGCGCTGTCGTCGTAGTCTC	0.597																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(370-372)gaC>gaT		POTE ankyrin domain family, member M							48	57	55					14																	20019849		339	1054	1393	SO:0001819	synonymous_variant	641455							g.chr14:20019849G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.372C>T	14.37:g.20019849G>A							p.D124D	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	423	-			124						Silent	SNP	ENST00000551509.1	37	c.372C>T	CCDS45076.1																																																																																				0.597	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		48	14	0	0	0	1	0	48	14					A	20019849	G	A	20019849	2	1	509	1	0	0	0	0	0	0	0	1	12268	1136	40	1		1	POTEM	14	20019849	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		20019849	87329691	29	40481											
ADCY4	196883	broad.mit.edu	37	chr14	24787935	24787935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccccaaatgtcatattgCggcttctgggccccaataac	8	13	2	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000554068.2_Silent_p.P1002P|ADCY4_ENST00000418030.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					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)		TGTCATATTGCGGCTTCTGGG	0.522																																						ENST00000310677.4																			0				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						c.(3004-3006)ccG>ccA		adenylate cyclase 4							105	100	102					14																	24787935		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787935C>T	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.3006G>A	14.37:g.24787935C>T						ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	25	3119	-			1002					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.3006G>A	CCDS9627.1																																																																																				0.522	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			31	42	0	0	0	1	0	31	42					T	24787935	C	T	24787935	2	4	509	1	0	0	0	0	0	0	0	1	296	755	27	1		1	ADCY4	14	24787935	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	4768086	24787935	82561605	30	40482											
PDE8A	5151	broad.mit.edu	37	chr15	85669478	85669478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgataaacactatgcttaGgactccagagaaccggaccc	9	11	0	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:85669478G>A	ENST00000310298.4	+	21	2378	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K|PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	709	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	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)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ACTATGCTTAGGACTCCAGAG	0.468																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2125-2127)aGg>aAg		phosphodiesterase 8A							98	92	94					15																	85669478		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85669478G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2126G>A	15.37:g.85669478G>A	ENSP00000311453:p.Arg709Lys					PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K|PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K	p.R709K			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		21	2378	+	Colorectal(223;0.227)		709			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2126G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	8.069	0.769741	0.15983	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.80994	-1.44;-1.44;-1.44	5.27	3.28	0.37604	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.206655	0.39341	N	0.001398	T	0.53594	0.1806	N	0.05031	-0.125	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.41502	-0.9505	10	0.05436	T	0.98	.	7.4728	0.27359	0.0935:0.2499:0.6566:0.0	.	663;709	O60658-2;O60658	.;PDE8A_HUMAN	K	709;709;663	ENSP00000311453:R709K;ENSP00000378056:R709K;ENSP00000340679:R663K	ENSP00000311453:R709K	R	+	2	0	PDE8A	83470482	0.604000	0.26932	0.043000	0.18650	0.932000	0.56968	1.008000	0.29872	1.433000	0.47394	0.644000	0.83932	AGG		0.468	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		10	51	0	0	0	1	0	10	51					A	85669478	G	A	85669478	3	1	509	1	0	0	0	0	1	0	0	0	11653	1000	35	2	2204	2	PDE8A	15	85669478	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		85669478	16861914	31	40483											
MSLN	10232	broad.mit.edu	37	chr16	812765	812765	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttcctgctcttcagcctcGgtgcgtacttgatggggctg	13	11	2	1	rs372994754		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:812765G>A	ENST00000382862.3	+	2	180	c.85G>A	c.(85-87)Gga>Aga	p.G29R	MSLN_ENST00000563941.1_Splice_Site_p.G29R|MSLN_ENST00000566549.1_Splice_Site_p.G29R|MSLN_ENST00000545450.2_Splice_Site_p.G29R	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	29					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTTCAGCCTCGGTGCGTACTT	0.682																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.e2+1		mesothelin		G	ARG/GLY,ARG/GLY,ARG/GLY	1,4399	2.1+/-5.4	0,1,2199	62	65	64		85,85,85	1.9	0.4	16		64	0,8598		0,0,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	125,125,125	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	29/623,29/623,29/631	812765	1,12997	2200	4299	6499	SO:0001630	splice_region_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:812765G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.85+1G>A	16.37:g.812765G>A						MSLN_ENST00000563941.1_Splice_Site_p.G29_splice|MSLN_ENST00000382862.3_Splice_Site_p.G29_splice|MSLN_ENST00000545450.2_Splice_Site_p.G29_splice	p.G29_splice			Q13421	MSLN_HUMAN			2	502	+		Hepatocellular(780;0.00335)	29					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Splice_Site	SNP	ENST00000382862.3	37	c.85_splice	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673912	0.47781	2.27E-4	0.0	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.23348	1.91;1.91	2.94	1.87	0.25490	.	0.768823	0.09827	U	0.750767	T	0.19406	0.0466	L	0.51422	1.61	0.39656	D	0.970544	P;P;P;P	0.37398	0.538;0.593;0.538;0.538	B;B;B;B	0.29353	0.061;0.101;0.061;0.061	T	0.15925	-1.0420	10	0.72032	D	0.01	.	5.1173	0.14840	0.195:0.0:0.805:0.0	.	29;29;29;29	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	R	29	ENSP00000442965:G29R;ENSP00000372313:G29R	ENSP00000372313:G29R	G	+	1	0	MSLN	752766	0.366000	0.25014	0.380000	0.26093	0.012000	0.07955	0.341000	0.19909	0.693000	0.31634	0.561000	0.74099	GGA		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		Missense_Mutation	36	49	0	0	0	1	0	36	49					A	812765	G	A	812765	5	1	509	1	0	0	0	0	0	0	1	0	9881	1130	39	1	87	1	MSLN	16	812765	Splice_Site	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		812765	89541988	32	40484											
TMC5	79838	broad.mit.edu	37	chr16	19451395	19451395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggaataactggtctgaggAagacccagattaccctgact	10	10	1	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:19451395A>G	ENST00000396229.2	+	3	784	c.35A>G	c.(34-36)gAa>gGa	p.E12G	TMC5_ENST00000381414.4_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G|TMC5_ENST00000542583.2_Missense_Mutation_p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	12					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGTCTGAGGAAGACCCAGAT	0.468																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(34-36)gAa>gGa		transmembrane channel-like 5							97	94	95					16																	19451395		1863	4120	5983	SO:0001583	missense	79838					integral to membrane		g.chr16:19451395A>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.35A>G	16.37:g.19451395A>G	ENSP00000379531:p.Glu12Gly					TMC5_ENST00000542583.2_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G|TMC5_ENST00000381414.4_Missense_Mutation_p.E12G	p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	784	+			12					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.35A>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884390	0.33255	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.72282	-0.54;-0.42;-0.64;-0.64	5.02	1.61	0.23674	.	678.590000	0.00166	N	0.000000	T	0.77585	0.4152	M	0.67953	2.075	0.09310	N	1	B;P;D	0.53619	0.211;0.935;0.961	B;P;P	0.52159	0.04;0.494;0.691	T	0.55724	-0.8096	10	0.87932	D	0	-5.9704	6.5262	0.22303	0.7238:0.0:0.2762:0.0	.	12;12;12	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	G	12	ENSP00000441227:E12G;ENSP00000370822:E12G;ENSP00000379531:E12G;ENSP00000446274:E12G	ENSP00000370822:E12G	E	+	2	0	TMC5	19358896	0.004000	0.15560	0.002000	0.10522	0.097000	0.18754	0.365000	0.20348	0.088000	0.17205	0.460000	0.39030	GAA		0.468	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		19	33	0	0	0	1	0	19	33					G	19451395	A	G	19451395	3	3	509	1	0	0	0	0	1	0	0	0	15985	246	9	3	37	3	TMC5	16	19451395	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	18638630	19451395	70903358	33	40485											
PKD1L2	114780	broad.mit.edu	37	chr16	81236151	81236151	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacagaggatccccaaagAcagcctggcagagagggccg	13	13	0	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:81236151A>G	ENST00000525539.1	-	0	1096				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCCCCAAAGACAGCCTGGCA	0.557																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1096-1098)gTc>gCc		polycystic kidney disease 1-like 2							59	65	63					16																	81236151		2044	4204	6248			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236151A>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236151A>G						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.V366A			Q7Z442	PK1L2_HUMAN			6	1096	-			366					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1097T>C		.	.	.	.	.	.	.	.	.	.	A	11.69	1.714080	0.30413	.	.	ENSG00000166473	ENST00000337114	D	0.87029	-2.2	4.74	1.23	0.21249	.	0.346348	0.26404	N	0.024577	T	0.77061	0.4075	.	.	.	0.09310	N	0.999991	B;B	0.14438	0.01;0.003	B;B	0.11329	0.006;0.004	T	0.64123	-0.6481	9	0.48119	T	0.1	-20.1147	4.3688	0.11237	0.6408:0.0:0.2248:0.1344	.	366;366	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	366	ENSP00000337397:V366A	ENSP00000337397:V366A	V	-	2	0	PKD1L2	79793652	0.986000	0.35501	0.627000	0.29227	0.727000	0.41649	2.567000	0.45956	-0.001000	0.14495	-0.263000	0.10527	GTC		0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			21	30	0	0	0	1	0	21	30					G	81236151	A	G	81236151	1	3	509	0	1	0	0	0	0	0	0	0	11965	275	10	3		3	PKD1L2	16	81236151	RNA	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	61784756	81236151	9118602	34	40486											
PRPF8	10594	broad.mit.edu	37	chr17	1578513	1578513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtggtccacgatgaggCgcagcagcctgttgagcaga	15	9	0	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:1578513C>T	ENST00000572621.1	-	19	3258	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998	Reverse transcriptase homology domain.				gene expression (GO:0010467)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512																																						ENST00000572621.1																			1	Substitution - Missense(1)	p.R998P(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2992-2994)cGc>cAc		pre-mRNA processing factor 8							210	144	166					17																	1578513		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578513C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2993G>A	17.37:g.1578513C>T	ENSP00000460348:p.Arg998His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H	p.R998H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	19	3258	-			998					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2993G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531594	0.96446	.	.	ENSG00000174231	ENST00000304992	D	0.82344	-1.6	5.89	5.89	0.94794	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94914	0.8067	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	998	Q6P2Q9	PRP8_HUMAN	H	998	ENSP00000304350:R998H	ENSP00000304350:R998H	R	-	2	0	PRPF8	1525263	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	CGC		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			27	47	0	0	0	1	0	27	47					T	1578513	C	T	1578513	3	4	509	1	0	0	0	0	1	0	0	0	12575	768	27	1	4110	1	PRPF8	17	1578513	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		1578513	79616697	35	40487											
SLC16A11	162515	broad.mit.edu	37	chr17	6945197	6945197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacaggaggaaagaggcgGtgaagtctcctgtctcatcc	13	10	2	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:6945197G>T	ENST00000308009.1	-	4	1554	c.1217C>A	c.(1216-1218)aCc>aAc	p.T406N	SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	406					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GAAAGAGGCGGTGAAGTCTCC	0.572																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(1216-1218)aCc>aAc		solute carrier family 16, member 11							37	49	45					17																	6945197		2195	4291	6486	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945197G>T	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1217C>A	17.37:g.6945197G>T	ENSP00000310490:p.Thr406Asn					SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	p.T406N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			4	1554	-			406						Missense_Mutation	SNP	ENST00000308009.1	37	c.1217C>A	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434123	0.12045	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.13196	2.61;2.61	4.99	-2.17	0.07059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.788010	0.11703	N	0.537743	T	0.10937	0.0267	L	0.51914	1.62	0.09310	N	0.999993	B	0.20671	0.047	B	0.19391	0.025	T	0.39375	-0.9617	10	0.19147	T	0.46	.	8.3971	0.32564	0.0:0.4856:0.2344:0.28	.	406	Q8NCK7	MOT11_HUMAN	N	406;374	ENSP00000310490:T406N;ENSP00000394449:T374N	ENSP00000310490:T406N	T	-	2	0	SLC16A11	6885921	0.083000	0.21467	0.090000	0.20809	0.601000	0.36947	0.187000	0.16998	-0.079000	0.12707	0.557000	0.71058	ACC		0.572	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		6	13	1	0	0.0215528	1	0.0215528	6	13					T	6945197	G	T	6945197	3	4	509	1	0	0	0	0	1	0	0	0	14404	1261	44	4	202	4	SLC16A11	17	6945197	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	5366684	6945197	74250013	36	40488											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	9	0	0	0	1	0	10	9					A	7577121	G	A	7577121	3	1	509	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	631924	7577121	73618089	37	40489											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	18	0	0	0	1	0	10	18					C	7578190	T	C	7578190	3	2	509	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	1069	7578190	73617020	38	40490											
UNC45B	146862	broad.mit.edu	37	chr17	33495212	33495212	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggagatgatggtggcActatgtggctcagagcgcga	17	6	1	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:33495212A>T	ENST00000268876.5	+	10	1381	c.1284A>T	c.(1282-1284)gcA>gcT	p.A428A	UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Silent_p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATGGTGGCACTATGTGGCT	0.597																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1282-1284)gcA>gcT		unc-45 homolog B (C. elegans)							125	92	103					17																	33495212		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495212A>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1284A>T	17.37:g.33495212A>T						UNC45B_ENST00000433649.1_Silent_p.A428A|UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A	p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1381	+		Ovarian(249;0.17)	428					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1284A>T	CCDS11292.1																																																																																				0.597	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		23	31	0	0	0	1	0	23	31					T	33495212	A	T	33495212	2	4	509	1	0	0	0	0	0	0	0	1	16986	146	6	5		5	UNC45B	17	33495212	Silent	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	25917022	33495212	47699998	39	40491											
CDC27	996	broad.mit.edu	37	chr17	45214654	45214654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttggatcaacttggatagCtctctggaagaatttaattg	9	5	2	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:45214654C>T	ENST00000066544.3	-	14	1870	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	CDC27_ENST00000446365.2_Missense_Mutation_p.A532T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000531206.1_Missense_Mutation_p.A599T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTTGGATAGCTCTCTGGAAG	0.388																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1777-1779)Gct>Act		cell division cycle 27							58	61	60					17																	45214654		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45214654C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1777G>A	17.37:g.45214654C>T	ENSP00000066544:p.Ala593Thr					CDC27_ENST00000446365.2_Missense_Mutation_p.A532T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000531206.1_Missense_Mutation_p.A599T	p.A593T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			14	1870	-			593					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1777G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	37	6.099044	0.97281	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;D;T	0.83837	0.5;0.5;-1.77;0.5	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.93792	0.8015	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.63046	0.992;0.99;0.99;0.982	D;P;D;D	0.65010	0.912;0.821;0.917;0.931	D	0.95232	0.8343	10	0.87932	D	0	-16.7763	17.5633	0.87913	0.0:1.0:0.0:0.0	.	532;592;599;593	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	T	593;599;532;592	ENSP00000066544:A593T;ENSP00000434614:A599T;ENSP00000392802:A532T;ENSP00000437339:A592T	ENSP00000066544:A593T	A	-	1	0	CDC27	42569653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.097000	0.71452	2.761000	0.94854	0.585000	0.79938	GCT		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	28	0	0	0	1	0	3	28					T	45214654	C	T	45214654	3	4	509	1	0	0	0	0	1	0	0	0	3066	797	28	2	721	2	CDC27	17	45214654	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	11719442	45214654	35980556	40	40492											
FADS6	283985	broad.mit.edu	37	chr17	72875555	72875555	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttcaggcacatgttatcagaGagcctggggaatagatggtg	14	6	2	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:72875555G>C	ENST00000310226.6	-	5	899	c.885C>G	c.(883-885)ctC>ctG	p.L295L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	301					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTATCAGAGAGCCTGGGGA	0.602																																						ENST00000310226.6																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(883-885)ctC>ctG		fatty acid desaturase 6							56	58	57					17																	72875555		1975	4152	6127	SO:0001819	synonymous_variant	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72875555G>C	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"Fatty acid desaturases"	30459	protein-coding gene	gene with protein product			"fatty acid desaturase domain family, member 6"				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.885C>G	17.37:g.72875555G>C							p.L295L	NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN			5	899	-	all_lung(278;0.172)|Lung NSC(278;0.207)		301					Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	c.885C>G	CCDS54163.1																																																																																				0.602	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			6	35	0	0	0	1	0	6	35					C	72875555	G	C	72875555	2	2	509	1	0	0	0	0	0	0	0	1	5368	929	33	4		4	FADS6	17	72875555	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	27660901	72875555	8319655	41	40493											
LAMA1	284217	broad.mit.edu	37	chr18	7033055	7033055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccaccaccaggtcgatGgcattagagctggctatgtc	13	12	0	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr18:7033055G>A	ENST00000389658.3	-	15	2184	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	697	Laminin IV type A 1. {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)				CCAGGTCGATGGCATTAGAGC	0.507																																						ENST00000389658.3																			0				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						c.(2089-2091)gcC>gcT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106	78	87					18																	7033055		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7033055G>A	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.2091C>T	18.37:g.7033055G>A							p.A697A	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			15	2184	-		Colorectal(10;0.172)	697			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.2091C>T	CCDS32787.1																																																																																				0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	5	0	0	0	1	0	5	5					A	7033055	G	A	7033055	2	1	509	1	0	0	0	0	0	0	0	1	8605	1335	47	2		2	LAMA1	18	7033055	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		7033055	71044193	42	40494											
AZU1	566	broad.mit.edu	37	chr19	831865	831865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcaacaacccgggaccGgggccagcctaggggggcct	15	14	1	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:831865G>A	ENST00000233997.2	+	5	765	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	248			Missing (in 50% of the molecules).		cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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)		ACCCGGGACCGGGGCCAGCCT	0.711																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(742-744)ccG>ccA		azurocidin 1							27	33	31					19																	831865		2189	4270	6459	SO:0001819	synonymous_variant	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:831865G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.744G>A	19.37:g.831865G>A							p.P248P	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		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)	5	765	+		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)	248		Missing (in 50% of the molecules).			P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	c.744G>A	CCDS12044.1																																																																																				0.711	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		20	40	0	0	0	1	0	20	40					A	831865	G	A	831865	2	1	509	1	0	0	0	0	0	0	0	1	1243	1103	39	1		1	AZU1	19	831865	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		831865	58297118	43	40495											
MEGF8	1954	broad.mit.edu	37	chr19	42873083	42873083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgggcaccacgactgcaaCgagacgcagaattgccacga	11	13	0	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:42873083C>T	ENST00000251268.6	+	37	6570	c.6570C>T	c.(6568-6570)aaC>aaT	p.N2190N	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.N2123N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2190	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)				ACGACTGCAACGAGACGCAGA	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6367-6369)aaC>aaT		multiple EGF-like-domains 8							83	86	85					19																	42873083		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42873083C>T	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.6570C>T	19.37:g.42873083C>T						MEGF8_ENST00000251268.6_Silent_p.N2190N	p.N2123N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			36	7004	+		Prostate(69;0.00682)	2190			PSI 7.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6369C>T																																																																																					0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		26	45	0	0	0	1	0	26	45					T	42873083	C	T	42873083	2	4	509	1	0	0	0	0	0	0	0	1	9463	535	19	1		1	MEGF8	19	42873083	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	42041218	42873083	16255900	44	40496											
SYT3	84258	broad.mit.edu	37	chr19	51132650	51132650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggccgatgaggtcgtgCcgcgagaagcggtcaaagtc	15	11	1	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:51132650C>T	ENST00000338916.4	-	4	1815	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	SYT3_ENST00000544769.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000593901.1_Silent_p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	394	C2 1. {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)		TGAGGTCGTGCCGCGAGAAGC	0.642																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1180-1182)cgG>cgA		synaptotagmin III							64	65	65					19																	51132650		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51132650C>T	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.1182G>A	19.37:g.51132650C>T						SYT3_ENST00000544769.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000593901.1_Silent_p.R394R	p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	4	1815	-		all_neural(266;0.131)	394			C2 1.		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.1182G>A	CCDS12798.1																																																																																				0.642	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		3	25	0	0	0	1	0	3	25					T	51132650	C	T	51132650	2	4	509	1	0	0	0	0	0	0	0	1	15472	726	26	2		2	SYT3	19	51132650	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	8259567	51132650	7996333	45	40497											
ZNF808	388558	broad.mit.edu	37	chr19	53057655	53057655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaccttcagccgcaggTcatcccttctatgccatcgt	8	15	3	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:53057655T>C	ENST00000359798.4	+	5	1666	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	496					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCCGCAGGTCATCCCTTCT	0.458																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1486-1488)Tca>Cca		zinc finger protein 808							97	103	101					19																	53057655		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057655T>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1486T>C	19.37:g.53057655T>C	ENSP00000352846:p.Ser496Pro						p.S496P	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1666	+			496					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1486T>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	10.76	1.442459	0.25987	.	.	ENSG00000198482	ENST00000359798	T	0.08102	3.13	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21186	0.0510	M	0.75150	2.29	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.11131	-1.0600	9	0.62326	D	0.03	.	2.3699	0.04328	0.0:0.1979:0.3046:0.4975	.	496	Q8N4W9	ZN808_HUMAN	P	496	ENSP00000352846:S496P	ENSP00000352846:S496P	S	+	1	0	ZNF808	57749467	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.158000	0.16422	0.666000	0.31087	0.164000	0.16699	TCA		0.458	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		42	72	0	0	0	1	0	42	72					C	53057655	T	C	53057655	3	2	509	1	0	0	0	0	1	0	0	0	18170	1667	58	3	1496	3	ZNF808	19	53057655	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	1925005	53057655	6071328	46	40498											
C20orf134	170487	broad.mit.edu	37	chr20	32255602	32255602	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgacctccgcgaccccgcccGccaccatccggccagtttca	8	22	1	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr20:32255602G>C	ENST00000330271.4	+	1	1299	c.299G>C	c.(298-300)cGc>cCc	p.R100P	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	100																	GACCCCGCCCGCCACCATCCG	0.672																																						ENST00000330271.4																			0											c.(298-300)cGc>cCc		actin-like 10							20	21	21					20																	32255602		2182	4258	6440	SO:0001583	missense	170487							g.chr20:32255602G>C	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 134"	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.299G>C	20.37:g.32255602G>C	ENSP00000329647:p.Arg100Pro					NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	p.R100P	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN			1	1299	+			100					B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	c.299G>C	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726088	0.30593	.	.	ENSG00000182584	ENST00000330271	T	0.06768	3.26	5.42	4.44	0.53790	.	0.160911	0.29892	N	0.010930	T	0.07863	0.0197	L	0.37561	1.115	0.35703	D	0.815781	B	0.13594	0.008	B	0.16289	0.015	T	0.07177	-1.0786	10	0.87932	D	0	-17.9062	9.7387	0.40404	0.0:0.2529:0.6084:0.1387	.	100	Q5JWF8	CT134_HUMAN	P	100	ENSP00000329647:R100P	ENSP00000329647:R100P	R	+	2	0	C20orf134	31719263	0.663000	0.27448	0.999000	0.59377	0.396000	0.30629	1.707000	0.37888	2.547000	0.85894	0.561000	0.74099	CGC		0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			8	11	0	0	0	1	0	8	11					C	32255602	G	C	32255602	3	2	509	1	0	0	0	0	1	0	0	0	2087	1087	38	4	301	4	C20orf134	20	32255602	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		32255602	30769918	47	40499											
MID2	11043	broad.mit.edu	37	chrX	107084269	107084269	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgagagccgccgggaaaggaCttacaggcccaccactgcca	12	14	0	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chrX:107084269C>G	ENST00000262843.6	+	2	922	c.374C>G	c.(373-375)aCt>aGt	p.T125S	MID2_ENST00000443968.2_Missense_Mutation_p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	125					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)|negative regulation of viral transcription (GO:0032897)|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)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CGGGAAAGGACTTACAGGCCC	0.537																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(373-375)aCt>aGt		midline 2							45	43	44					X																	107084269		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084269C>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.374C>G	X.37:g.107084269C>G	ENSP00000262843:p.Thr125Ser					MID2_ENST00000443968.2_Missense_Mutation_p.T125S	p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	922	+			125					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.374C>G	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	6.802	0.517100	0.13005	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.59224	0.74;0.28;0.3	5.94	5.08	0.68730	.	0.183873	0.48286	D	0.000196	T	0.23926	0.0579	N	0.01048	-1.04	0.27480	N	0.952615	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.16660	-1.0395	10	0.15066	T	0.55	.	8.1544	0.31160	0.0:0.8175:0.0:0.1825	.	125;125	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	S	105;125;125	ENSP00000410730:T105S;ENSP00000262843:T125S;ENSP00000413976:T125S	ENSP00000262843:T125S	T	+	2	0	MID2	106970925	0.997000	0.39634	1.000000	0.80357	0.949000	0.60115	3.073000	0.50057	1.265000	0.44215	0.600000	0.82982	ACT		0.537	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		15	7	0	0	0	1	0	15	7					G	107084269	C	G	107084269	3	3	509	1	0	0	0	0	1	0	0	0	9578	565	20	4	380	4	MID2	23	107084269	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		107084269	48186291	48	40500											
CCDC27	148870	broad.mit.edu	37	chr1	3679740	3679740	+	Frame_Shift_Del	DEL	G	G	-													ggaggtggcgaggaggacgaGggcctggaaggggagcccga							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:3679740delG	ENST00000294600.2	+	7	1107	c.1023delG	c.(1021-1023)gagfs	p.E341fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	341	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGGACGAGGGCCTGGAAG	0.677																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1021-1023)gafs		coiled-coil domain containing 27							43	43	43					1																	3679740		2181	4283	6464	SO:0001589	frameshift_variant	148870							g.chr1:3679740delG		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1023delG	1.37:g.3679740delG	ENSP00000294600:p.Glu341fs						p.E341fs	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1107	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	341			Glu-rich.		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	ENST00000294600.2	37	c.1023delG	CCDS50.1																																																																																				0.677	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		2	4						2	4	---	---	---	---	-	3679740	G	-	3679740	7	5	510	1	0	1	0	1	0	0	0	0	2801	991	35	0	1049	0	CCDC27	1	3679740	Frame_Shift_Del	DEL	G	TCGA-WY-A858-01A-11D-A36O-08		3679740	245570881	1	40501											
RAD54L	8438	broad.mit.edu	37	chr1	46743501	46743503	+	In_Frame_Del	DEL	GAG	GAG	-													ttccccaggcagggaccattGaggagaagatcttccagcgt							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:46743501_46743503delGAG	ENST00000371975.4	+	17	2556_2558	c.1882_1884delGAG	c.(1882-1884)gagdel	p.E629del	RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	629	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		AGGGACCATTGAGGAGAAGATCT	0.527								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1882-1884)del	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)																																				SO:0001651	inframe_deletion	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46743501_46743503delGAG	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.1882_1884delGAG	1.37:g.46743504_46743506delGAG	ENSP00000361043:p.Glu629del					RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del	p.E629del	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	17	2556_2558	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	629			Helicase C-terminal.		Q5TE31|Q6IUY3	In_Frame_Del	DEL	ENST00000371975.4	37	c.1882_1884delGAG	CCDS532.1																																																																																				0.527	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		8	53						8	53	---	---	---	---	-	46743503	GAG	-	46743501	7	5	510	1	0	1	0	1	0	0	0	0	12993	1291	45	0	1948	0	RAD54L	1	46743501	In_Frame_Del	DEL	GAG	TCGA-WY-A858-01A-11D-A36O-08	43063761	46743501	202507120	2	40502											
LGALS8	3964	broad.mit.edu	37	chr1	236700805	236700805	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttttcttaggtaatcccGtttgttggcaccattcctga	7	9	1	1	rs188331225		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:236700805G>A	ENST00000366584.4	+	3	620	c.54G>A	c.(52-54)ccG>ccA	p.P18P	LGALS8_ENST00000526589.1_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	18					plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGTAATCCCGTTTGTTGGCA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.0		0.001	False		,,,				2504	0.0					ENST00000526589.1																			0				kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20						c.(52-54)ccG>ccA		lectin, galactoside-binding, soluble, 8		G	,,,	0,4406		0,0,2203	107	89	95		54,54,54,54	-2.9	1	1		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS8	NM_006499.4,NM_201543.2,NM_201544.2,NM_201545.2	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	18/360,18/318,18/318,18/360	236700805	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236700805G>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"Lectins, galactoside-binding"	6569	protein-coding gene	gene with protein product	"galectin 8"	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.54G>A	1.37:g.236700805G>A						LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P|LGALS8_ENST00000366584.4_Silent_p.P18P	p.P18P			O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	574	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	18					O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Silent	SNP	ENST00000366584.4	37	c.54G>A	CCDS1612.1																																																																																				0.368	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499		29	36	0	0	0	1	0	29	36					A	236700805	G	A	236700805	2	1	510	1	0	0	0	0	0	0	0	1	8747	1132	40	1		1	LGALS8	1	236700805	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	189957304	236700805	12549816	3	40503											
TTN	7273	broad.mit.edu	37	chr2	179419409	179419409	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatcagctggaggccgCcagagaagggtgatcttctc	12	12	4	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:179419409C>G	ENST00000591111.1	-	282	83966	c.83742G>C	c.(83740-83742)tgG>tgC	p.W27914C	TTN_ENST00000589042.1_Missense_Mutation_p.W29555C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27914	Fibronectin type-III 103. {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)			CTGGAGGCCGCCAGAGAAGGG	0.473																																						ENST00000589042.1																			0				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						c.(88663-88665)tgG>tgC		titin							113	115	115					2																	179419409		1985	4164	6149	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419409C>G	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.83742G>C	2.37:g.179419409C>G	ENSP00000465570:p.Trp27914Cys					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27914C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.W29555C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		332	88889	-			27914			Fibronectin type-III 115.		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	ENST00000591111.1	37	c.88665G>C		.	.	.	.	.	.	.	.	.	.	C	17.40	3.379973	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95996	0.8696	H	0.98594	4.275	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;0.999;0.999	D	0.97125	0.9814	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20490;20615;20682;27914	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	26987;20490;20682;20615;20487	ENSP00000343764:W26987C;ENSP00000434586:W20490C;ENSP00000340554:W20682C;ENSP00000352154:W20615C	ENSP00000340554:W20682C	W	-	3	0	TTN	179127655	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	TGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	87	0	0	0	1	0	30	87					G	179419409	C	G	179419409	3	3	510	1	0	0	0	0	1	0	0	0	16732	740	26	4	19438	4	TTN	2	179419409	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		179419409	63779964	4	40504											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	58	0	0	0	1	0	23	58					T	209113112	C	T	209113112	3	4	510	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	29693703	209113112	34086261	5	40505											
NGLY1	55768	broad.mit.edu	37	chr3	25792628	25792628	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcgataacttttcttgtgAtttcctttttagttcttgga	6	7	3	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:25792628A>G	ENST00000280700.5	-	4	779	c.619T>C	c.(619-621)Tca>Cca	p.S207P	NGLY1_ENST00000428257.1_Missense_Mutation_p.S207P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	207					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						TTTTCTTGTGATTTCCTTTTT	0.348																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(619-621)Tca>Cca		N-glycanase 1							175	169	171					3																	25792628		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25792628A>G	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.619T>C	3.37:g.25792628A>G	ENSP00000280700:p.Ser207Pro					NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P|NGLY1_ENST00000280700.5_Missense_Mutation_p.S207P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P	p.S207P	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			4	726	-			207					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.619T>C	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840879	0.51057	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874	T;T;T;T;T;T	0.22539	2.1;2.1;2.1;2.1;1.95;2.1	5.76	-1.52	0.08637	.	0.430246	0.25714	N	0.028787	T	0.20901	0.0503	L	0.50333	1.59	0.22701	N	0.998831	B;P;P;P	0.37398	0.323;0.566;0.593;0.586	B;B;B;B	0.42692	0.163;0.395;0.382;0.192	T	0.20174	-1.0283	10	0.72032	D	0.01	-4.0049	9.3053	0.37872	0.3657:0.4959:0.1384:0.0	.	165;207;207;207	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	P	207;207;207;204;130;165	ENSP00000387430:S207P;ENSP00000280700:S207P;ENSP00000379886:S207P;ENSP00000307980:S204P;ENSP00000395878:S130P;ENSP00000389888:S165P	ENSP00000280700:S207P	S	-	1	0	NGLY1	25767632	0.997000	0.39634	0.974000	0.42286	0.258000	0.26162	0.754000	0.26390	0.070000	0.16634	-0.346000	0.07831	TCA		0.348	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			10	48	0	0	0	1	0	10	48					G	25792628	A	G	25792628	3	3	510	1	0	0	0	0	1	0	0	0	10398	333	12	3	1477	3	NGLY1	3	25792628	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		25792628	172229802	6	40506											
KIF9	64147	broad.mit.edu	37	chr3	47307320	47307320	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggcctgctccaggaatgaGagcgatttgttgatgtaggt	14	6	0	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47307320G>C	ENST00000265529.3	-	9	1496	c.816C>G	c.(814-816)ctC>ctG	p.L272L	KIF9_ENST00000352910.4_Silent_p.L179L|KIF9_ENST00000335044.2_Silent_p.L272L|KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Silent_p.L272L			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	272	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		CCAGGAATGAGAGCGATTTGT	0.542																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(814-816)ctC>ctG		kinesin family member 9							211	181	191					3																	47307320		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47307320G>C	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.816C>G	3.37:g.47307320G>C						KIF9_ENST00000444589.2_Silent_p.L272L|KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.L272L|KIF9_ENST00000352910.4_Silent_p.L179L	p.L272L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1173	-		Acute lymphoblastic leukemia(5;0.164)	272					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.816C>G	CCDS2752.1																																																																																				0.542	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			38	80	0	0	0	1	0	38	80					C	47307320	G	C	47307320	2	2	510	1	0	0	0	0	0	0	0	1	8310	929	33	4		4	KIF9	3	47307320	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	21514692	47307320	150715110	7	40507											
PTPN23	25930	broad.mit.edu	37	chr3	47450743	47450743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggagcagcagctgcGtgagcttatccagaaagatg	13	10	0	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47450743G>A	ENST00000265562.4	+	17	1810	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	578					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)		CAGCAGCTGCGTGAGCTTATC	0.602																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1732-1734)cGt>cAt		protein tyrosine phosphatase, non-receptor type 23							60	57	58					3																	47450743		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450743G>A	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.1733G>A	3.37:g.47450743G>A	ENSP00000265562:p.Arg578His					PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	p.R578H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	1810	+			578					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.1733G>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868975	0.91587	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.34859	1.34	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.60248	0.2254	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.66582	-0.5887	10	0.87932	D	0	-11.3473	15.5092	0.75766	0.0:0.0:1.0:0.0	.	452;578	B4DST5;Q9H3S7	.;PTN23_HUMAN	H	543;578	ENSP00000265562:R578H	ENSP00000265562:R578H	R	+	2	0	PTPN23	47425747	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.362000	0.97126	2.181000	0.69327	0.462000	0.41574	CGT		0.602	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		12	27	0	0	0	1	0	12	27					A	47450743	G	A	47450743	3	1	510	1	0	0	0	0	1	0	0	0	12788	1145	40	1	1799	1	PTPN23	3	47450743	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	143423	47450743	150571687	8	40508											
ALCAM	214	broad.mit.edu	37	chr3	105266056	105266057	+	Frame_Shift_Del	DEL	TA	TA	-													attatcaggatgctggaaacTatgtctgcgaaactgctctg							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:105266056_105266057delTA	ENST00000306107.5	+	10	1668_1669	c.1168_1169delTA	c.(1168-1170)tatfs	p.Y390fs	ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	390	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTGGAAACTATGTCTGCGAA	0.381																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1168-1170)tfs		activated leukocyte cell adhesion molecule																																				SO:0001589	frameshift_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105266056_105266057delTA	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1168_1169delTA	3.37:g.105266056_105266057delTA	ENSP00000305988:p.Tyr390fs					ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs	p.Y390fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			10	1668_1669	+			390			Ig-like C2-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Del	DEL	ENST00000306107.5	37	c.1168_1169delTA	CCDS33810.1																																																																																				0.381	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		35	94						35	94	---	---	---	---	-	105266057	TA	-	105266056	7	5	510	1	0	1	0	1	0	0	0	0	487	1522	53	0	1206	0	ALCAM	3	105266056	Frame_Shift_Del	DEL	TA	TCGA-WY-A858-01A-11D-A36O-08	57815313	105266056	92756374	9	40509											
HHLA2	11148	broad.mit.edu	37	chr3	108072600	108072603	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													gaacagcaattcaagtgattAcaaacaaagtggtgctaaag					rs200858373		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:108072600_108072603delACAA	ENST00000357759.5	+	4	805_808	c.391_394delACAA	c.(391-396)acaaacfs	p.TN131fs	HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	131	Ig-like V-type 1.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCAAGTGATTACAAACAAAGTGGT	0.382																																						ENST00000357759.5																			0				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						c.(391-396)acfs		HERV-H LTR-associating 2																																				SO:0001589	frameshift_variant	11148					integral to membrane		g.chr3:108072600_108072603delACAA	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.391_394delACAA	3.37:g.108072604_108072607delACAA	ENSP00000350402:p.Thr131fs					HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs	p.TN131fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN			4	805_808	+			131			Ig-like V-type 1.		B4DKN2|D3DN60|Q9NWQ6	Frame_Shift_Del	DEL	ENST00000357759.5	37	c.391_394delACAA	CCDS46883.1																																																																																				0.382	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072		8	30						8	30	---	---	---	---	-	108072603	ACAA	-	108072600	7	5	510	1	0	1	0	1	0	0	0	0	7095	391	14	0	397	0	HHLA2	3	108072600	Frame_Shift_Del	DEL	ACAA	TCGA-WY-A858-01A-11D-A36O-08	2806544	108072600	89949830	10	40510											
SLC9A10	285335	broad.mit.edu	37	chr3	111983138	111983138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcaggaattagaagtcCaaagaaagtaaacaccatga	9	6	0	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:111983138C>T	ENST00000305815.5	-	9	1183	c.931G>A	c.(931-933)Gga>Aga	p.G311R	SLC9C1_ENST00000487372.1_Intron	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	311					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)										ATTAGAAGTCCAAAGAAAGTA	0.244																																						ENST00000305815.5																			0											c.(931-933)Gga>Aga		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							27	30	29					3																	111983138		2172	4251	6423	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111983138C>T	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.931G>A	3.37:g.111983138C>T	ENSP00000306627:p.Gly311Arg					SLC9C1_ENST00000487372.1_Intron	p.G311R	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			9	1183	-			311					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.931G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255655	0.59321	.	.	ENSG00000172139	ENST00000305815	T	0.73897	-0.79	5.96	5.96	0.96718	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000010	D	0.84579	0.5503	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85256	0.1047	10	0.87932	D	0	-16.2579	15.9183	0.79539	0.0:1.0:0.0:0.0	.	311	Q4G0N8	S9A10_HUMAN	R	311	ENSP00000306627:G311R	ENSP00000306627:G311R	G	-	1	0	SLC9A10	113465828	1.000000	0.71417	0.986000	0.45419	0.284000	0.27059	3.919000	0.56439	2.820000	0.97059	0.609000	0.83330	GGA		0.244	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		7	18	0	0	0	1	0	7	18					T	111983138	C	T	111983138	3	4	510	1	0	0	0	0	1	0	0	0	14710	603	21	2	2686	2	SLC9A10	3	111983138	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	3910538	111983138	86039292	11	40511											
SNX25	83891	broad.mit.edu	37	chr4	186267775	186267775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagtttatggaaaagTcgaagaatcaattaaataag	7	3	2	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr4:186267775T>C	ENST00000504273.1	+	13	2074	c.1780T>C	c.(1780-1782)Tcg>Ccg	p.S594P	SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	594	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TATGGAAAAGTCGAAGAATCA	0.338																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1780-1782)Tcg>Ccg		sorting nexin 25							54	58	56					4																	186267775		2203	4297	6500	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186267775T>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1780T>C	4.37:g.186267775T>C	ENSP00000426255:p.Ser594Pro					SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR	p.S594P			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	13	2074	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	594			PX.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.1780T>C	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924703	0.73213	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.29397	1.57;1.57	5.02	5.02	0.67125	Phox homologous domain (5);	0.141865	0.50627	D	0.000117	T	0.54062	0.1835	M	0.65975	2.015	0.43555	D	0.995866	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.58239	-0.7671	10	0.72032	D	0.01	-9.8691	15.0355	0.71744	0.0:0.0:0.0:1.0	.	365;127;594	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	P	594;594;127	ENSP00000426255:S594P;ENSP00000264694:S594P	ENSP00000264693:S127P	S	+	1	0	SNX25	186504769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.731000	0.68554	2.009000	0.58944	0.533000	0.62120	TCG		0.338	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		9	65	0	0	0	1	0	9	65					C	186267775	T	C	186267775	3	2	510	1	0	0	0	0	1	0	0	0	14896	1667	58	3	1826	3	SNX25	4	186267775	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		186267775	4886501	12	40512											
VNN1	8876	broad.mit.edu	37	chr6	133032924	133032924	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgggtagagagagtcccTgttgaagttccagccataaa	11	7	0	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr6:133032924T>C	ENST00000367928.4	-	2	278	c.265A>G	c.(265-267)Agg>Ggg	p.R89G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	89	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AGAGAGTCCCTGTTGAAGTTC	0.433																																						ENST00000367928.4																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(265-267)Agg>Ggg		vanin 1							112	113	112					6																	133032924		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133032924T>C	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.265A>G	6.37:g.133032924T>C	ENSP00000356905:p.Arg89Gly						p.R89G	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	2	278	-	Breast(56;0.135)		89			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.265A>G	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707297	0.48412	.	.	ENSG00000112299	ENST00000367928	D	0.89681	-2.55	5.6	5.6	0.85130	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.060323	0.64402	D	0.000002	D	0.93719	0.7993	M	0.85945	2.785	0.47123	D	0.999322	D	0.67145	0.996	D	0.68039	0.955	D	0.94767	0.7941	10	0.87932	D	0	-20.3971	15.4376	0.75157	0.0:0.0:0.0:1.0	.	89	O95497	VNN1_HUMAN	G	89	ENSP00000356905:R89G	ENSP00000356905:R89G	R	-	1	2	VNN1	133074617	0.996000	0.38824	0.217000	0.23759	0.115000	0.19883	3.842000	0.55858	2.136000	0.66102	0.454000	0.30748	AGG		0.433	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			33	94	0	0	0	1	0	33	94					C	133032924	T	C	133032924	3	2	510	1	0	0	0	0	1	0	0	0	17179	1579	55	3	1300	3	VNN1	6	133032924	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		133032924	38082143	13	40513											
FBXO24	26261	broad.mit.edu	37	chr7	100189399	100189399	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcttgcccaccaaggaTcacgtcttcattcttgacta	6	14	5	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:100189399T>C	ENST00000241071.6	+	4	754	c.432T>C	c.(430-432)gaT>gaC	p.D144D	FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.D130D|FBXO24_ENST00000468962.1_Silent_p.D132D|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000360609.2_Silent_p.D130D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	144					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)					CCACCAAGGATCACGTCTTCA	0.602																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(430-432)gaT>gaC		F-box protein 24							86	81	83					7																	100189399		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189399T>C	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.432T>C	7.37:g.100189399T>C						FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.D132D|FBXO24_ENST00000465843.1_Silent_p.D130D|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000360609.2_Silent_p.D130D	p.D144D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			4	754	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		144					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.432T>C	CCDS5698.1																																																																																				0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			17	74	0	0	0	1	0	17	74					C	100189399	T	C	100189399	2	2	510	1	0	0	0	0	0	0	0	1	5735	1432	50	3		3	FBXO24	7	100189399	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		100189399	58949264	14	40514											
MTMR9	66036	broad.mit.edu	37	chr8	11180232	11180232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaagaattacaagcaaaaGtcaatatccttcgaaggcag	7	7	1	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:11180232G>A	ENST00000221086.3	+	10	2058	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	529						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACAAGCAAAAGTCAATATCCT	0.418																																						ENST00000221086.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(1585-1587)Gtc>Atc		myotubularin related protein 9							77	76	77					8																	11180232		2203	4300	6503	SO:0001583	missense	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11180232G>A	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1585G>A	8.37:g.11180232G>A	ENSP00000221086:p.Val529Ile					MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I|AF131216.6_ENST00000498997.2_RNA	p.V529I	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	10	2058	+			529					B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	c.1585G>A	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835885	0.50951	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.95205	-3.58;-3.64	5.7	5.7	0.88788	.	0.111230	0.64402	D	0.000010	D	0.91978	0.7459	L	0.43701	1.375	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	D	0.87490	0.2426	10	0.25751	T	0.34	.	18.81	0.92054	0.0:0.0:1.0:0.0	.	529	Q96QG7	MTMR9_HUMAN	I	529;444	ENSP00000221086:V529I;ENSP00000433239:V444I	ENSP00000221086:V529I	V	+	1	0	MTMR9	11217642	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.247000	0.95444	2.678000	0.91216	0.655000	0.94253	GTC		0.418	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		13	45	0	0	0	1	0	13	45					A	11180232	G	A	11180232	3	1	510	1	0	0	0	0	1	0	0	0	9950	1029	36	2	1623	2	MTMR9	8	11180232	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08		11180232	135183790	15	40515											
BAI1	575	broad.mit.edu	37	chr8	143603376	143603378	+	In_Frame_Del	DEL	CTT	CTT	-													cacttcttcttcctgtcctcCttctgctgggtgctcaccga							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:143603376_143603378delCTT	ENST00000517894.1	+	21	3969_3971	c.3075_3077delCTT	c.(3073-3078)tccttc>tcc	p.F1026del	BAI1_ENST00000323289.5_In_Frame_Del_p.F1026del			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1026					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTGTCCTCCTTCTGCTGGGTG	0.695																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3073-3078)tcc>tc		brain-specific angiogenesis inhibitor 1																																				SO:0001651	inframe_deletion	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603376_143603378delCTT	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3075_3077delCTT	8.37:g.143603376_143603378delCTT	ENSP00000430945:p.Phe1026del					BAI1_ENST00000323289.5_In_Frame_Del_p.SF1025del	p.SF1025del			O14514	BAI1_HUMAN			21	3969_3971	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1025						In_Frame_Del	DEL	ENST00000517894.1	37	c.3075_3077delCTT																																																																																					0.695	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		11	15						11	15	---	---	---	---	-	143603378	CTT	-	143603376	7	5	510	1	0	1	0	1	0	0	0	0	1298	668	24	0	3153	0	BAI1	8	143603376	In_Frame_Del	DEL	CTT	TCGA-WY-A858-01A-11D-A36O-08	132423144	143603376	2760646	16	40516											
RPL35	11224	broad.mit.edu	37	chr9	127623796	127623798	+	In_Frame_Del	DEL	CTT	CTT	-													agctgtttcagcagctcctcCttcttcttcccgcgaagatc							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:127623796_127623798delCTT	ENST00000348462.3	-	2	88_90	c.40_42delAAG	c.(40-42)aagdel	p.K14del	ARPC5L_ENST00000353214.2_5'Flank|RPL35_ENST00000373570.4_In_Frame_Del_p.K14del	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	14					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)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCAGCTCCTCCTTCTTCTTCCCG	0.621																																						ENST00000373570.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(40-42)del		ribosomal protein L35				0,4264		0,0,2132						5.4	1			55	1,8253		0,1,4126	no	coding	RPL35	NM_007209.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	11224				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr9:127623796_127623798delCTT	U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"L ribosomal proteins"	10344	protein-coding gene	gene with protein product	"60S ribosomal protein L35"					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.40_42delAAG	9.37:g.127623802_127623804delCTT	ENSP00000259469:p.Lys14del					RPL35_ENST00000348462.3_In_Frame_Del_p.K14del	p.K14del			P42766	RL35_HUMAN		GBM - Glioblastoma multiforme(294;0.182)	2	42_44	-			14					A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	In_Frame_Del	DEL	ENST00000348462.3	37	c.40_42delAAG	CCDS6858.1																																																																																				0.621	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054035.1	NM_007209		22	62						22	62	---	---	---	---	-	127623798	CTT	-	127623796	7	5	510	1	0	1	0	1	0	0	0	0	13584	680	24	0	341	0	RPL35	9	127623796	In_Frame_Del	DEL	CTT	TCGA-WY-A858-01A-11D-A36O-08		127623796	13589635	17	40517											
MRC1	4360	broad.mit.edu	37	chr10	17891628	17891628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcagtggtggccgtatgCcggtcactgttacaagattc	12	9	2	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:17891628C>T	ENST00000331429.2	+	7	1212	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTATGCCGGTCACTGT	0.443																																						ENST00000331429.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1108-1110)gCc>gTc									61	75	70					10																	17891628		2168	4167	6335	SO:0001583	missense	0							g.chr10:17891628C>T																												ENST00000331429.2:c.1109C>T	10.37:g.17891628C>T	ENSP00000332124:p.Ala370Val					MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V	p.A370V							7	1212	+									Missense_Mutation	SNP	ENST00000331429.2	37	c.1109C>T		.	.	.	.	.	.	.	.	.	.	C	16.48	3.135340	0.56828	.	.	ENSG00000183748	ENST00000331429;ENST00000457317	T;T	0.17370	2.28;2.28	3.74	3.74	0.42951	.	0.000000	0.53938	U	0.000041	T	0.16514	0.0397	.	.	.	0.40571	D	0.981302	P	0.41420	0.749	B	0.43575	0.424	T	0.18272	-1.0342	8	0.29301	T	0.29	-6.1652	11.2846	0.49214	0.0:0.8153:0.1847:0.0	.	370	B9EJA8	.	V	370	ENSP00000332124:A370V;ENSP00000391843:A370V	ENSP00000332124:A370V	A	+	2	0	AL928580.1	17931634	0.057000	0.20700	0.974000	0.42286	0.652000	0.38707	1.280000	0.33202	2.081000	0.62600	0.461000	0.40582	GCC		0.443	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			4	173	0	0	0	1	0	4	173					T	17891628	C	T	17891628	3	4	510	1	0	0	0	0	1	0	0	0	9756	739	26	2	1135	2	MRC1	10	17891628	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		17891628	117643119	18	40518											
AGAP6	414189	broad.mit.edu	37	chr10	51769588	51769588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaggaacggtggatccGttccaaatatgaggagaagc	14	6	0	3	rs533152789	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:51769588G>A	ENST00000374056.4	+	7	2032	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	AGAP6_ENST00000412531.3_Missense_Mutation_p.R568H			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	545	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)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CGGTGGATCCGTTCCAAATAT	0.577													.|||	2	0.000399361	0.0	0.0	5008	,	,		23782	0.001		0.0	False		,,,				2504	0.001					ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(1633-1635)cGt>cAt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51769588G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1634G>A	10.37:g.51769588G>A	ENSP00000363168:p.Arg545His					AGAP6_ENST00000412531.3_Missense_Mutation_p.R568H	p.R545H			C9IYN2	C9IYN2_HUMAN			7	2032	+			568						Missense_Mutation	SNP	ENST00000374056.4	37	c.1634G>A		.	.	.	.	.	.	.	.	.	.	.	4.864	0.160569	0.09287	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	-0.093	0.13652	.	0.135172	0.51477	N	0.000085	T	0.56321	0.1977	M	0.81341	2.54	0.44447	D	0.997376	B	0.26902	0.163	B	0.24269	0.052	T	0.33523	-0.9865	9	0.54805	T	0.06	.	4.5664	0.12189	0.3304:0.0:0.6696:0.0	.	568	C9IYN2	.	H	568;545	.	ENSP00000363168:R568H	R	+	2	0	AGAP6	51439594	1.000000	0.71417	0.074000	0.20217	0.075000	0.17131	6.482000	0.73613	-1.381000	0.02112	-1.368000	0.01194	CGT		0.577	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		33	111	0	0	0	1	0	33	111					A	51769588	G	A	51769588	3	1	510	1	0	0	0	0	1	0	0	0	372	1145	40	1	1733	1	AGAP6	10	51769588	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	33877960	51769588	83765159	19	40519											
COL2A1	1280	broad.mit.edu	37	chr12	48373309	48373309	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattggagcctgggggTccaacgcggccagcagctcc	13	14	0	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:48373309T>C	ENST00000380518.3	-	41	2882	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	COL2A1_ENST00000337299.6_Silent_p.G837G|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	906	Triple-helical region.				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)	AGCCTGGGGGTCCAACGCGGC	0.602																																						ENST00000380518.3																			0				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						c.(2716-2718)ggA>ggG		collagen, type II, alpha 1	Collagenase(DB00048)						58	58	58					12																	48373309		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48373309T>C	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.2718A>G	12.37:g.48373309T>C						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G837G	p.G906G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			41	2882	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	906			Triple-helical region.		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	ENST00000380518.3	37	c.2718A>G	CCDS41778.1																																																																																				0.602	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		3	53	0	0	0	1	0	3	53					C	48373309	T	C	48373309	2	2	510	1	0	0	0	0	0	0	0	1	3687	1654	58	3		3	COL2A1	12	48373309	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		48373309	85478586	20	40520											
OR6C3	254786	broad.mit.edu	37	chr12	55725991	55725991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggattactgtgcttccaaCgtcattgatcactttgcatg	8	10	2	1	rs375250219		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:55725991C>T	ENST00000379667.1	+	1	507	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	169					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)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTGCTTCCAACGTCATTGATC	0.433																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(505-507)aaC>aaT		olfactory receptor, family 6, subfamily C, member 3		C		0,4406		0,0,2203	285	255	265		507	-3.5	0	12		265	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6C3	NM_054104.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		169/312	55725991	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725991C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"GPCR / Class A : Olfactory receptors"	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.507C>T	12.37:g.55725991C>T							p.N169N	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	507	+			169						Silent	SNP	ENST00000379667.1	37	c.507C>T	CCDS31819.1																																																																																				0.433	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			45	160	0	0	0	1	0	45	160					T	55725991	C	T	55725991	2	4	510	1	0	0	0	0	0	0	0	1	11192	535	19	1		1	OR6C3	12	55725991	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7352682	55725991	78125904	21	40521											
BAZ2A	11176	broad.mit.edu	37	chr12	56998880	56998880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtaggagggaaagccagGatcatggagtgcagccttca	14	8	2	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:56998880G>A	ENST00000551812.1	-	14	2924	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P879S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	911	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAAAGCCAGGATCATGGAGT	0.522																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(2635-2637)Cct>Tct		bromodomain adjacent to zinc finger domain, 2A							70	70	70					12																	56998880		2097	4222	6319	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56998880G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2731C>T	12.37:g.56998880G>A	ENSP00000446880:p.Pro911Ser					BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P911S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S	p.P879S			Q9UIF9	BAZ2A_HUMAN			15	2834	-			911			DDT.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.2635C>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137951	0.94517	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.75260	-0.85;-0.85;-0.92;-0.92	5.4	5.4	0.78164	DDT domain superfamily (1);DDT domain, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86933	0.2074	10	0.54805	T	0.06	.	18.3346	0.90283	0.0:0.0:1.0:0.0	.	909;911	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	S	881;879;911;909	ENSP00000368754:P881S;ENSP00000179765:P879S;ENSP00000446880:P911S;ENSP00000447941:P909S	ENSP00000179765:P879S	P	-	1	0	BAZ2A	55285147	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	9.736000	0.98828	2.717000	0.92951	0.655000	0.94253	CCT		0.522	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		13	21	0	0	0	1	0	13	21					A	56998880	G	A	56998880	3	1	510	1	0	0	0	0	1	0	0	0	1331	1174	41	2	3050	2	BAZ2A	12	56998880	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1272889	56998880	76853015	22	40522											
PLXNC1	10154	broad.mit.edu	37	chr12	94673311	94673314	+	Frame_Shift_Del	DEL	TCAG	TCAG	-													cagatgtctgtcggaatattTcagtcaatgttctcgactgt							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:94673311_94673314delTCAG	ENST00000258526.4	+	22	3910_3913	c.3661_3664delTCAG	c.(3661-3666)tcagtcfs	p.SV1221fs	PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs|RP11-1105G2.3_ENST00000551941.1_Intron|RP11-1105G2.4_ENST00000550111.1_RNA|RP11-1105G2.3_ENST00000547927.1_5'Flank|PLXNC1_ENST00000545312.1_5'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1221					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						TCGGAATATTTCAGTCAATGTTCT	0.402																																						ENST00000258526.4																			0				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						c.(3661-3666)tcfs		plexin C1																																				SO:0001589	frameshift_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94673311_94673314delTCAG	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.3661_3664delTCAG	12.37:g.94673311_94673314delTCAG	ENSP00000258526:p.Ser1221fs					PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs	p.SV1221fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			22	3910_3913	+			1221					Q59H25	Frame_Shift_Del	DEL	ENST00000258526.4	37	c.3661_3664delTCAG	CCDS9049.1																																																																																				0.402	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			34	94						34	94	---	---	---	---	-	94673314	TCAG	-	94673311	7	5	510	1	0	1	0	1	0	0	0	0	12126	1783	62	0	3747	0	PLXNC1	12	94673311	Frame_Shift_Del	DEL	TCAG	TCGA-WY-A858-01A-11D-A36O-08	37674431	94673311	39178584	23	40523											
FLT1	2321	broad.mit.edu	37	chr13	29041202	29041202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggcagatttagttaTgctcagcctttcgctttcct	7	12	1	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:29041202T>C	ENST00000282397.4	-	3	477	c.226A>G	c.(226-228)Ata>Gta	p.I76V	FLT1_ENST00000539099.1_Missense_Mutation_p.I76V|FLT1_ENST00000541932.1_Missense_Mutation_p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	76	Ig-like C2-type 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)	GATTTAGTTATGCTCAGCCTT	0.418																																						ENST00000282397.4																			0				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						c.(226-228)Ata>Gta		fms-related tyrosine kinase 1	Sunitinib(DB01268)						228	209	215					13																	29041202		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29041202T>C	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.226A>G	13.37:g.29041202T>C	ENSP00000282397:p.Ile76Val					FLT1_ENST00000541932.1_Missense_Mutation_p.I76V|FLT1_ENST00000539099.1_Missense_Mutation_p.I76V	p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	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)	3	477	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	76			Ig-like C2-type 1.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.226A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	5.896	0.349472	0.11182	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.19394	2.15;2.15;2.15	5.81	3.36	0.38483	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202923	0.42294	N	0.000731	T	0.09113	0.0225	N	0.11789	0.175	0.38218	D	0.94066	B;B;B;B;B	0.18013	0.025;0.025;0.006;0.025;0.003	B;B;B;B;B	0.24155	0.039;0.023;0.051;0.023;0.014	T	0.18398	-1.0338	10	0.02654	T	1	.	7.6365	0.28270	0.0:0.2322:0.0:0.7678	.	76;76;76;76;76	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	V	76	ENSP00000282397:I76V;ENSP00000437631:I76V;ENSP00000442630:I76V	ENSP00000282397:I76V	I	-	1	0	FLT1	27939202	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	0.700000	0.25601	0.989000	0.38761	0.528000	0.53228	ATA		0.418	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			6	158	0	0	0	1	0	6	158					C	29041202	T	C	29041202	3	2	510	1	0	0	0	0	1	0	0	0	5941	1464	51	3	4165	3	FLT1	13	29041202	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		29041202	86128676	24	40524											
GPR18	2841	broad.mit.edu	37	chr13	99908051	99908051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacagctatagaagacaaGggctgcaattttgtattcat	9	6	1	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:99908051G>A	ENST00000340807.3	-	3	632	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	GPR18_ENST00000397470.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	26					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)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAGAAGACAAGGGCTGCAATT	0.388																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(76-78)Ctt>Ttt		G protein-coupled receptor 18	Glycine(DB00145)						131	130	131					13																	99908051		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99908051G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.76C>T	13.37:g.99908051G>A	ENSP00000343428:p.Leu26Phe					GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.L26F	p.L26F			Q14330	GPR18_HUMAN			3	632	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		26					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.76C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573713	0.65765	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.95	5.08	0.68730	.	0.078514	0.52532	D	0.000062	T	0.26810	0.0656	N	0.08118	0	0.58432	D	0.999999	P	0.47191	0.891	P	0.46940	0.532	T	0.07654	-1.0761	9	.	.	.	-16.1138	16.3083	0.82859	0.0:0.0:0.8666:0.1334	.	26	Q14330	GPR18_HUMAN	F	26	ENSP00000380613:L26F;ENSP00000380610:L26F;ENSP00000343428:L26F;ENSP00000401611:L26F	.	L	-	1	0	GPR18	98706052	1.000000	0.71417	0.847000	0.33407	0.750000	0.42670	5.384000	0.66225	1.475000	0.48197	0.563000	0.77884	CTT		0.388	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			8	85	0	0	0	1	0	8	85					A	99908051	G	A	99908051	3	1	510	1	0	0	0	0	1	0	0	0	6675	1000	35	2	923	2	GPR18	13	99908051	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	70866849	99908051	15261827	25	40525											
SMOC1	64093	broad.mit.edu	37	chr14	70442502	70442502	+	Frame_Shift_Del	DEL	C	C	-													gaagcccatcagtggctcttCtgtgcagaataaaactcctg							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:70442502delC	ENST00000381280.4	+	4	702	c.449delC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGGCTCTTCTGTGCAGAAT	0.522																																						ENST00000381280.4																			1	Substitution - Missense(1)	p.S150F(1)	skin(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(448-450)ttfs		SPARC related modular calcium binding 1							110	101	104					14																	70442502		2203	4300	6503	SO:0001589	frameshift_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70442502delC	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.449delC	14.37:g.70442502delC	ENSP00000370680:p.Ser150fs					SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	4	702	+			150			Thyroglobulin type-1 1.		A8K1S3|B2R7P5|Q96F78	Frame_Shift_Del	DEL	ENST00000381280.4	37	c.449delC	CCDS9798.1																																																																																				0.522	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			18	47						18	47	---	---	---	---	-	70442502	C	-	70442502	7	5	510	1	0	1	0	1	0	0	0	0	14801	913	32	0	463	0	SMOC1	14	70442502	Frame_Shift_Del	DEL	C	TCGA-WY-A858-01A-11D-A36O-08		70442502	36907038	26	40526											
SNW1	22938	broad.mit.edu	37	chr14	78197382	78197382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctggctttctgggCcatttctctaagtttctctt	6	13	4	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:78197382C>T	ENST00000261531.7	-	10	1044	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	328	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|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 by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTTTCTGGGCCATTTCTCTA	0.403																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(982-984)Gcc>Acc		SNW domain containing 1							145	143	143					14																	78197382		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78197382C>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.982G>A	14.37:g.78197382C>T	ENSP00000261531:p.Ala328Thr					SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T	p.A328T	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	10	1044	-			328			SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.982G>A	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354443	0.95830	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.36	5.36	0.76844	SKI-interacting protein SKIP, SNW domain (1);	0.148708	0.64402	N	0.000011	D	0.89441	0.6716	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.994	D	0.92427	0.5950	9	0.87932	D	0	.	19.1193	0.93355	0.0:1.0:0.0:0.0	.	328;328	G3V3A4;Q13573	.;SNW1_HUMAN	T	328;166;328	.	ENSP00000261531:A328T	A	-	1	0	SNW1	77267135	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.438000	0.80431	2.511000	0.84671	0.573000	0.79308	GCC		0.403	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		4	97	0	0	0	1	0	4	97					T	78197382	C	T	78197382	3	4	510	1	0	0	0	0	1	0	0	0	14879	739	26	2	648	2	SNW1	14	78197382	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7754880	78197382	29152158	27	40527											
DEGS2	123099	broad.mit.edu	37	chr14	100615600	100615600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacggccttggggtggAcgcagagcggccgtagtgag	20	9	1	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:100615600A>G	ENST00000305631.5	-	2	1105	c.530T>C	c.(529-531)gTc>gCc	p.V177A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTTGGGGTGGACGCAGAGCGG	0.667																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(529-531)gTc>gCc		delta(4)-desaturase, sphingolipid 2							37	41	40					14																	100615600		2203	4296	6499	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615600A>G		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.530T>C	14.37:g.100615600A>G	ENSP00000307126:p.Val177Ala					DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	p.V177A	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	1105	-		Melanoma(154;0.212)	177						Missense_Mutation	SNP	ENST00000305631.5	37	c.530T>C	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.040514	0.35989	.	.	ENSG00000168350	ENST00000305631	T	0.15718	2.4	4.62	4.62	0.57501	Fatty acid desaturase, type 1 (1);	0.116848	0.56097	N	0.000022	T	0.31482	0.0798	M	0.91818	3.245	0.80722	D	1	B	0.20550	0.046	B	0.19946	0.027	T	0.32851	-0.9891	10	0.72032	D	0.01	-13.3503	14.2919	0.66284	1.0:0.0:0.0:0.0	.	177	Q6QHC5	DEGS2_HUMAN	A	177	ENSP00000307126:V177A	ENSP00000307126:V177A	V	-	2	0	DEGS2	99685353	1.000000	0.71417	0.954000	0.39281	0.050000	0.14768	9.226000	0.95229	1.842000	0.53543	0.459000	0.35465	GTC		0.667	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		16	42	0	0	0	1	0	16	42					G	100615600	A	G	100615600	3	3	510	1	0	0	0	0	1	0	0	0	4423	275	10	3	449	3	DEGS2	14	100615600	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08	22418218	100615600	6733940	28	40528											
SLC28A2	9153	broad.mit.edu	37	chr15	45554261	45554261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtttctgcaaaacacaCgccagcttgttcaagaagat	8	9	2	3	rs59889218	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:45554261C>T	ENST00000347644.3	+	4	284	c.219C>T	c.(217-219)caC>caT	p.H73H	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	73					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)	GCAAAACACACGCCAGCTTGT	0.393																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(217-219)caC>caT		solute carrier family 28 (concentrative nucleoside transporter), member 2							186	170	175					15																	45554261		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45554261C>T	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.219C>T	15.37:g.45554261C>T						CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	p.H73H	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	4	284	+		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)	73					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.219C>T	CCDS10121.1																																																																																				0.393	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		4	121	0	0	0	1	0	4	121					T	45554261	C	T	45554261	2	4	510	1	0	0	0	0	0	0	0	1	14532	535	19	1		1	SLC28A2	15	45554261	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		45554261	56977131	29	40529											
DTWD1	56986	broad.mit.edu	37	chr15	49935734	49935734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagttgataaagaatgccAaatgctctggagataaggaa	10	6	1	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:49935734A>G	ENST00000251250.6	+	6	1081	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	292										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)		AAAGAATGCCAAATGCTCTGG	0.289																																						ENST00000251250.6																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(874-876)Aaa>Gaa		DTW domain containing 1							77	87	84					15																	49935734		2192	4285	6477	SO:0001583	missense	56986							g.chr15:49935734A>G	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.874A>G	15.37:g.49935734A>G	ENSP00000251250:p.Lys292Glu					DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E|DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E	p.K292E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)	6	1081	+		all_lung(180;0.0384)	292					Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	c.874A>G	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945450	0.92593	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.26067	1.76;1.76	5.52	5.52	0.82312	DTW (1);	0.184987	0.56097	D	0.000029	T	0.38026	0.1025	M	0.67953	2.075	0.80722	D	1	P;P	0.45715	0.837;0.865	B;P	0.48189	0.434;0.57	T	0.12915	-1.0529	9	.	.	.	-13.409	15.6564	0.77140	1.0:0.0:0.0:0.0	.	205;292	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	E	292;292;205	ENSP00000385399:K292E;ENSP00000251250:K292E	.	K	+	1	0	DTWD1	47723026	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.070000	0.93974	2.100000	0.63781	0.533000	0.62120	AAA		0.289	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		40	81	0	0	0	1	0	40	81					G	49935734	A	G	49935734	3	3	510	1	0	0	0	0	1	0	0	0	4791	131	5	3	888	3	DTWD1	15	49935734	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08	4381473	49935734	52595658	30	40530											
CA12	771	broad.mit.edu	37	chr15	63637702	63637702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaagtgctgtccgctgaCggtgtgctcagagccgtgcg	17	11	1	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:63637702C>T	ENST00000178638.3	-	4	843	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	CA12_ENST00000344366.3_Missense_Mutation_p.V135I|CA12_ENST00000422263.2_Missense_Mutation_p.V75I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	135					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGTCCGCTGACGGTGTGCTCA	0.647																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(403-405)Gtc>Atc		carbonic anhydrase XII	Acetazolamide(DB00819)						71	64	66					15																	63637702		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637702C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.403G>A	15.37:g.63637702C>T	ENSP00000178638:p.Val135Ile					CA12_ENST00000422263.2_Missense_Mutation_p.V75I|CA12_ENST00000344366.3_Missense_Mutation_p.V135I	p.V135I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			4	843	-			135					B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.403G>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.673632	0.00758	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.72942	-0.7;-0.7;-0.7	5.09	-3.28	0.05033	Carbonic anhydrase, alpha-class, conserved site (1);Carbonic anhydrase, alpha-class, catalytic domain (4);	0.235946	0.42964	N	0.000622	T	0.42426	0.1202	N	0.11255	0.115	0.19775	N	0.999953	B;B;B	0.20261	0.035;0.043;0.004	B;B;B	0.19391	0.025;0.009;0.005	T	0.37663	-0.9696	10	0.07813	T	0.8	.	11.8841	0.52592	0.0:0.3744:0.0:0.6256	.	75;135;135	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	I	135;135;75	ENSP00000178638:V135I;ENSP00000343088:V135I;ENSP00000403028:V75I	ENSP00000178638:V135I	V	-	1	0	CA12	61424755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.260000	0.02858	-0.752000	0.04728	-0.448000	0.05591	GTC		0.647	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		11	21	0	0	0	1	0	11	21					T	63637702	C	T	63637702	3	4	510	1	0	0	0	0	1	0	0	0	2513	536	19	1	693	1	CA12	15	63637702	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	13701968	63637702	38893690	31	40531											
ITGAE	3682	broad.mit.edu	37	chr17	3653745	3653745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacatgccgaagtactggAgtcctggggccaccgtggag	16	10	0	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:3653745A>G	ENST00000263087.4	-	16	2023	c.1925T>C	c.(1924-1926)cTc>cCc	p.L642P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	642					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)		GAAGTACTGGAGTCCTGGGGC	0.632																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				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						c.(1924-1926)cTc>cCc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							60	52	54					17																	3653745		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3653745A>G	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.1925T>C	17.37:g.3653745A>G	ENSP00000263087:p.Leu642Pro						p.L642P	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	16	2023	-			642					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.1925T>C	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	A	9.043	0.990113	0.18966	.	.	ENSG00000083457	ENST00000263087	T	0.69175	-0.38	4.31	4.31	0.51392	.	.	.	.	.	T	0.54983	0.1892	M	0.63169	1.94	0.58432	D	0.999998	P	0.42409	0.779	B	0.31547	0.132	T	0.60667	-0.7218	9	0.56958	D	0.05	.	6.7795	0.23638	0.8911:0.0:0.1089:0.0	.	642	P38570	ITAE_HUMAN	P	642	ENSP00000263087:L642P	ENSP00000263087:L642P	L	-	2	0	ITGAE	3600494	0.997000	0.39634	0.936000	0.37596	0.057000	0.15508	6.739000	0.74827	1.733000	0.51620	0.397000	0.26171	CTC		0.632	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		3	29	0	0	0	1	0	3	29					G	3653745	A	G	3653745	3	3	510	1	0	0	0	0	1	0	0	0	7885	304	11	3	1678	3	ITGAE	17	3653745	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		3653745	77541465	32	40532											
PLD2	5338	broad.mit.edu	37	chr17	4718863	4718863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagagggcgctgatgctGctgcaccccaacataaaggt	12	11	0	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:4718863G>A	ENST00000263088.6	+	13	1397	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PLD2_ENST00000572940.1_Silent_p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	422					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCTGATGCTGCTGCACCCCA	0.582											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1264-1266)ctG>ctA		phospholipase D2	Choline(DB00122)						230	201	211					17																	4718863		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4718863G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1266G>A	17.37:g.4718863G>A			OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_ENST00000572940.1_Silent_p.L422L	p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			13	1397	+			422					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.1266G>A	CCDS11057.1																																																																																				0.582	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		41	136	0	0	0	1	0	41	136					A	4718863	G	A	4718863	2	1	510	1	0	0	0	0	0	0	0	1	12046	1306	46	2		2	PLD2	17	4718863	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1065118	4718863	76476347	33	40533											
TP53	7157	broad.mit.edu	37	chr17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtttcttctttggctGgggagaggagctggtgttgt	17	5	2	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*	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	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)	TTCTTTGGCTGGGGAGAGGAG	0.473		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(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						c.(949-951)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							129	119	122					17																	7576897		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576897G>A	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.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*	p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1081	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	317		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.949C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	33	0	0	0	1	0	15	33					A	7576897	G	A	7576897	4	1	510	1	0	0	0	0	0	1	0	0	16378	1357	47	2	333	2	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	2858034	7576897	73618313	34	40534											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	18	11	1	0	rs28934874|rs137852790|rs137852791		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55	55	55					17																	7578479		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578479G>A	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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	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)				TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	36	0	0	0	1	0	18	36					A	7578479	G	A	7578479	3	1	510	1	0	0	0	0	1	0	0	0	16378	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1582	7578479	73616731	35	40535											
MYH1	4619	broad.mit.edu	37	chr17	10411266	10411266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccacctttctttccaccGccagcctctgaggggaaaaa	7	14	2	1	rs149473835		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:10411266G>A	ENST00000226207.5	-	17	1999	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	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	635	Myosin motor.				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						TCTTTCCACCGCCAGCCTCTG	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18380	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5																			0				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						c.(1903-1905)ggC>ggT		myosin, heavy chain 1, skeletal muscle, adult		G		4,4402	8.1+/-20.4	0,4,2199	54	61	59		1905	-3.9	0.5	17	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	MYH1	NM_005963.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		635/1940	10411266	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411266G>A		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.1905C>T	17.37:g.10411266G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.G635G	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			17	1999	-			635			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1905C>T	CCDS11155.1																																																																																				0.383	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		28	37	0	0	0	1	0	28	37					A	10411266	G	A	10411266	2	1	510	1	0	0	0	0	0	0	0	1	10029	1074	38	1		1	MYH1	17	10411266	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	2832787	10411266	70783944	36	40536											
MKS1	54903	broad.mit.edu	37	chr17	56294063	56294063	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgccacccaatcacaatCtcctcctcttcgtcttcctc	2	20	4	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:56294063C>T	ENST00000393119.2	-	3	299	c.225G>A	c.(223-225)gaG>gaA	p.E75E	LPO_ENST00000582328.1_5'Flank|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E|MKS1_ENST00000337050.7_Silent_p.E75E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	75					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAATCACAATCTCCTCCTCTT	0.502																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(223-225)gaG>gaA		Meckel syndrome, type 1							154	159	157					17																	56294063		1983	4166	6149	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56294063C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.225G>A	17.37:g.56294063C>T						MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.E75E|MKS1_ENST00000337050.7_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E	p.E75E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			3	299	-			75					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.225G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451501	0.43531	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.53	2.4	0.29515	.	.	.	.	.	T	0.55986	0.1955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50259	-0.8849	4	.	.	.	-15.3485	7.7914	0.29123	0.0:0.6738:0.0:0.3262	.	.	.	.	K	76	.	.	R	-	2	0	MKS1	53649062	0.872000	0.30054	0.738000	0.30950	0.947000	0.59692	1.365000	0.34182	0.883000	0.36040	0.643000	0.83706	AGA		0.502	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		22	51	0	0	0	1	0	22	51					T	56294063	C	T	56294063	2	4	510	1	0	0	0	0	0	0	0	1	9609	912	32	2		2	MKS1	17	56294063	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	45882797	56294063	24901147	37	40537											
CCDC46	201134	broad.mit.edu	37	chr17	63847968	63847968	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgagtctttttcagcTctattttcatcttttctgat	5	9	6	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:63847968T>A	ENST00000392769.2	-	21	2566	c.2348A>T	c.(2347-2349)gAg>gTg	p.E783V	CEP112_ENST00000541355.1_Missense_Mutation_p.E418V|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.E783V|CEP112_ENST00000537949.1_Missense_Mutation_p.E741V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	783					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						CTTTTTCAGCTCTATTTTCAT	0.378																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2347-2349)gAg>gTg		centrosomal protein 112kDa							201	187	192					17																	63847968		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63847968T>A	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.2348A>T	17.37:g.63847968T>A	ENSP00000376522:p.Glu783Val					CEP112_ENST00000541355.1_Missense_Mutation_p.E418V|CEP112_ENST00000537949.1_Missense_Mutation_p.E741V|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.E783V	p.E783V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			21	2566	-			783					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2348A>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557522	0.65425	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.53857	0.76;0.76;0.6;0.76	5.05	5.05	0.67936	.	0.060984	0.64402	D	0.000008	T	0.59797	0.2220	L	0.40543	1.245	0.44214	D	0.99704	D;P;D	0.64830	0.982;0.95;0.994	P;P;P	0.57776	0.648;0.648;0.827	T	0.63594	-0.6602	10	0.66056	D	0.02	-17.2175	14.7888	0.69824	0.0:0.0:0.0:1.0	.	741;741;783	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	V	783;783;418;741	ENSP00000442784:E783V;ENSP00000376522:E783V;ENSP00000443711:E418V;ENSP00000440775:E741V	ENSP00000376522:E783V	E	-	2	0	CEP112	61278430	1.000000	0.71417	0.992000	0.48379	0.975000	0.68041	6.440000	0.73435	1.900000	0.55004	0.454000	0.30748	GAG		0.378	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		4	142	0	0	0	1	0	4	142					A	63847968	T	A	63847968	3	1	510	1	0	0	0	0	1	0	0	0	2817	1551	54	5	713	5	CCDC46	17	63847968	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	7553905	63847968	17347242	38	40538											
APOH	350	broad.mit.edu	37	chr17	64224315	64224315	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatctggcttgggacaggCtgaaagagggcacaaagcag	14	8	2	2	rs113836465		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:64224315C>T	ENST00000205948.6	-	2	102		c.e2-1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTGGGACAGGCTGAAAGAGGG	0.408																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.e2-1		apolipoprotein H (beta-2-glycoprotein I)							110	107	108					17																	64224315		2203	4300	6503	SO:0001630	splice_region_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64224315C>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.65-1G>A	17.37:g.64224315C>T								NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		2	102	-								B2R9M3|Q9UCN7	Splice_Site	SNP	ENST00000205948.6	37		CCDS11663.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843053	0.51057	.	.	ENSG00000091583	ENST00000205948	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3113	0.82872	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APOH	61654777	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.210000	0.58500	2.573000	0.86826	0.650000	0.86243	.		0.408	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042	Intron	29	46	0	0	0	1	0	29	46					T	64224315	C	T	64224315	5	4	510	1	0	0	0	0	0	0	1	0	804	811	28	2	1001	2	APOH	17	64224315	Splice_Site	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	376347	64224315	16970895	39	40539											
SERPINB5	5268	broad.mit.edu	37	chr18	61154285	61154285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgaaactaatcaagcggcTctacgtagacaaatctctga	7	10	3	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr18:61154285T>C	ENST00000382771.4	+	3	567	c.275T>C	c.(274-276)cTc>cCc	p.L92P	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATCAAGCGGCTCTACGTAGAC	0.353																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(274-276)cTc>cCc		serpin peptidase inhibitor, clade B (ovalbumin), member 5							88	86	87					18																	61154285		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61154285T>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.275T>C	18.37:g.61154285T>C	ENSP00000372221:p.Leu92Pro					SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			3	567	+			92					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.275T>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685960	0.68157	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.87179	-2.22;-2.22	5.12	5.12	0.69794	Serpin domain (3);	0.099647	0.44483	D	0.000458	D	0.94938	0.8363	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96073	0.9047	10	0.87932	D	0	.	14.2016	0.65707	0.0:0.0:0.0:1.0	.	92;92	P36952;P36952-2	SPB5_HUMAN;.	P	92	ENSP00000372221:L92P;ENSP00000408821:L92P	ENSP00000372221:L92P	L	+	2	0	SERPINB5	59305265	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	4.871000	0.63042	2.065000	0.61736	0.528000	0.53228	CTC		0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		4	104	0	0	0	1	0	4	104					C	61154285	T	C	61154285	3	2	510	1	0	0	0	0	1	0	0	0	14104	1551	54	3	281	3	SERPINB5	18	61154285	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		61154285	16922963	40	40540											
MADCAM1	8174	broad.mit.edu	37	chr19	498503	498503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatcacagccttcccGgaccagctgaccgtctcccc	6	22	2	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:498503G>A	ENST00000215637.3	+	3	391	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MADCAM1_ENST00000587541.1_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Silent_p.P115P|MADCAM1_ENST00000382683.4_Silent_p.P20P	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	115	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		CAGCCTTCCCGGACCAGCTGA	0.706																																						ENST00000215637.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(343-345)ccG>ccA		mucosal vascular addressin cell adhesion molecule 1							25	33	30					19																	498503		2200	4299	6499	SO:0001819	synonymous_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:498503G>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.345G>A	19.37:g.498503G>A						MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000382683.4_Silent_p.P20P|MADCAM1_ENST00000346144.4_Silent_p.P115P|AC005775.2_ENST00000592413.1_RNA	p.P115P	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN		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)	3	391	+		all_cancers(10;4.25e-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)	115			Ig-like 2.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	c.345G>A	CCDS12028.1																																																																																				0.706	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		7	24	0	0	0	1	0	7	24					A	498503	G	A	498503	2	1	510	1	0	0	0	0	0	0	0	1	9151	1103	39	1		1	MADCAM1	19	498503	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08		498503	58630480	41	40541											
SMARCA4	6597	broad.mit.edu	37	chr19	11135109	11135111	+	In_Frame_Del	DEL	AAG	AAG	-													ctgatggctccgagaaggacAagaaggtgggccccagagtc							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:11135109_11135111delAAG	ENST00000429416.3	+	22	3357_3359	c.3076_3078delAAG	c.(3076-3078)aagdel	p.K1027del	SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1027					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)				CGAGAAGGACAAGAAGGTGGGCC	0.626			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(3076-3078)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001651	inframe_deletion	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11135109_11135111delAAG	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.3076_3078delAAG	19.37:g.11135112_11135114delAAG	ENSP00000395654:p.Lys1027del					SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del	p.K1027del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			21	3360_3362	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1027					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	c.3076_3078delAAG	CCDS12253.1																																																																																				0.626	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		16	34						16	34	---	---	---	---	-	11135111	AAG	-	11135109	7	5	510	1	0	1	0	1	0	0	0	0	14770	131	5	0	3154	0	SMARCA4	19	11135109	In_Frame_Del	DEL	AAG	TCGA-WY-A858-01A-11D-A36O-08	10636606	11135109	47993874	42	40542											
PARD6B	84612	broad.mit.edu	37	chr20	49366352	49366352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctattatagacgtggAtattctcccagaaacgcatc	7	10	3	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:49366352A>G	ENST00000371610.2	+	3	689	c.446A>G	c.(445-447)gAt>gGt	p.D149G	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	149	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATAGACGTGGATATTCTCCCA	0.448																																						ENST00000371610.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						c.(445-447)gAt>gGt		par-6 family cell polarity regulator beta							75	73	74					20																	49366352		2203	4300	6503	SO:0001583	missense	84612				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	g.chr20:49366352A>G	AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)"			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.446A>G	20.37:g.49366352A>G	ENSP00000360672:p.Asp149Gly					PARD6B_ENST00000396039.1_Intron	p.D149G	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN			3	689	+			149			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	c.446A>G	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812917	0.70912	.	.	ENSG00000124171	ENST00000371610	T	0.46451	0.87	6.02	4.9	0.64082	PDZ/DHR/GLGF (1);	0.043931	0.85682	D	0.000000	T	0.67144	0.2862	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72007	-0.4420	10	0.87932	D	0	-35.591	12.5669	0.56314	0.8753:0.0:0.0:0.1247	.	149	Q9BYG5	PAR6B_HUMAN	G	149	ENSP00000360672:D149G	ENSP00000360672:D149G	D	+	2	0	PARD6B	48799759	1.000000	0.71417	0.864000	0.33941	0.603000	0.37013	8.875000	0.92372	1.061000	0.40601	0.533000	0.62120	GAT		0.448	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2	NM_032521		6	74	0	0	0	1	0	6	74					G	49366352	A	G	49366352	3	3	510	1	0	0	0	0	1	0	0	0	11446	333	12	3	456	3	PARD6B	20	49366352	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		49366352	13659168	43	40543											
OFD1	8481	broad.mit.edu	37	chrX	13767612	13767612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatggatttgctaagaggaAgagaagcagagctgaagcaa	13	4	0	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:13767612A>G	ENST00000340096.6	+	9	1222	c.895A>G	c.(895-897)Aga>Gga	p.R299G	OFD1_ENST00000398395.3_Missense_Mutation_p.R299G|OFD1_ENST00000380567.1_Missense_Mutation_p.R159G|OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					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						GCTAAGAGGAAGAGAAGCAGA	0.299																																						ENST00000380567.1																			0				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						c.(475-477)Aga>Gga		oral-facial-digital syndrome 1							65	63	64					X																	13767612		2203	4298	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13767612A>G	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.895A>G	X.37:g.13767612A>G	ENSP00000344314:p.Arg299Gly					OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000398395.3_Missense_Mutation_p.R299G|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R299G	p.R159G			O75665	OFD1_HUMAN			10	1347	+			299					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.475A>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106397	0.56291	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.97529	-4.07;-3.99;-4.42;-2.58	5.66	1.69	0.24217	.	0.042575	0.85682	D	0.000000	D	0.98093	0.9371	M	0.80746	2.51	0.32287	N	0.566779	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.974;0.999;0.994;0.99;0.999	D	0.98270	1.0503	10	0.51188	T	0.08	-13.6643	14.2389	0.65945	0.4439:0.5561:0.0:0.0	.	162;299;299;159;299	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	G	299;299;299;159;162	ENSP00000369923:R299G;ENSP00000381432:R299G;ENSP00000344314:R299G;ENSP00000369941:R159G	ENSP00000344314:R299G	R	+	1	2	OFD1	13677533	0.989000	0.36119	0.143000	0.22291	0.966000	0.64601	1.953000	0.40352	-0.073000	0.12842	0.486000	0.48141	AGA		0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		3	42	0	0	0	1	0	3	42					G	13767612	A	G	13767612	3	3	510	1	0	0	0	0	1	0	0	0	10838	64	3	3	929	3	OFD1	23	13767612	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		13767612	141502948	44	40544											
MAGEE1	57692	broad.mit.edu	37	chrX	75649951	75649951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagcccacctggagtgcaTttttaggtttgaattgagag	12	7	0	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:75649951T>G	ENST00000361470.2	+	1	1906	c.1628T>G	c.(1627-1629)aTt>aGt	p.I543S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	543	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					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						CTGGAGTGCATTTTTAGGTTT	0.468																																						ENST00000361470.2																			0				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						c.(1627-1629)aTt>aGt		melanoma antigen family E, 1							38	36	36					X																	75649951		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649951T>G	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.1628T>G	X.37:g.75649951T>G	ENSP00000354912:p.Ile543Ser						p.I543S	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1906	+			543			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1628T>G	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	T	4.116	0.019681	0.08006	.	.	ENSG00000198934	ENST00000361470	T	0.04809	3.55	2.34	1.08	0.20341	.	.	.	.	.	T	0.11965	0.0291	L	0.52905	1.665	0.09310	N	1	D	0.60575	0.988	D	0.64595	0.927	T	0.16276	-1.0408	9	0.87932	D	0	.	4.6494	0.12587	0.0:0.0:0.3342:0.6658	.	543	Q9HCI5	MAGE1_HUMAN	S	543	ENSP00000354912:I543S	ENSP00000354912:I543S	I	+	2	0	MAGEE1	75566355	1.000000	0.71417	0.001000	0.08648	0.003000	0.03518	2.127000	0.42035	0.189000	0.20188	0.481000	0.45027	ATT		0.468	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		15	38	0	0	0	1	0	15	38					G	75649951	T	G	75649951	3	3	510	1	0	0	0	0	1	0	0	0	9185	1493	52	5	1630	5	MAGEE1	23	75649951	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	61882339	75649951	79620609	45	40545											
ATRX	546	broad.mit.edu	37	chrX	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-													tatgctctttaggctttgtcTttttttcttctccagattct							TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:76918921delT	ENST00000373344.5	-	12	4284	c.4070delA	c.(4069-4071)aagfs	p.K1357fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1357					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						AGGCTTTGTCTTTTTTTCTTC	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(4069-4071)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						170	140	150					X																	76918921		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918921delT	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.4070delA	X.37:g.76918921delT	ENSP00000362441:p.Lys1357fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs	p.K1357fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4284	-			1357					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4070delA	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	111						44	111	---	---	---	---	-	76918921	T	-	76918921	7	5	510	1	0	1	0	1	0	0	0	0	1208	1609	56	0	3504	0	ATRX	23	76918921	Frame_Shift_Del	DEL	T	TCGA-WY-A858-01A-11D-A36O-08	1268970	76918921	78351639	46	40546											
COL4A5	1287	broad.mit.edu	37	chrX	107938545	107938545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagccctagcctcccctGgttcctgcttggaagagttt	10	13	1	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:107938545G>T	ENST00000361603.2	+	50	5096	c.4852G>T	c.(4852-4854)Ggt>Tgt	p.G1618C	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1624C	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1618	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCCTCCCCTGGTTCCTGCTT	0.498									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4870-4872)Ggt>Tgt		collagen, type IV, alpha 5							172	149	157					X																	107938545		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938545G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4852G>T	X.37:g.107938545G>T	ENSP00000354505:p.Gly1618Cys					COL4A5_ENST00000361603.2_Missense_Mutation_p.G1618C	p.G1624C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			52	5114	+			1618		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4870G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802268	0.90538	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99418	-5.87;-5.87	5.43	5.43	0.79202	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97140	0.9824	10	0.87932	D	0	.	18.3588	0.90368	0.0:0.0:1.0:0.0	.	1621;1618	E7EVY4;P29400	.;CO4A5_HUMAN	C	1624;1618;1624	ENSP00000331902:G1624C;ENSP00000354505:G1618C	ENSP00000331902:G1624C	G	+	1	0	COL4A5	107825201	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.275000	0.75901	0.594000	0.82650	GGT		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			33	99	1	0	9.93527e-08	1	9.93527e-08	33	99					T	107938545	G	T	107938545	3	4	510	1	0	0	0	0	1	0	0	0	3694	1348	47	4	5061	4	COL4A5	23	107938545	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	31019624	107938545	47332015	47	40547											
MAGEC1	9947	broad.mit.edu	37	chrX	140996487	140996487	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataccgtccctattaccttTccatcctcttacaaggatgc	4	14	1	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:140996487T>C	ENST00000285879.4	+	4	3583	c.3297T>C	c.(3295-3297)ttT>ttC	p.F1099F	MAGEC1_ENST00000406005.2_Silent_p.F166F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1099	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTACCTTTCCATCCTCTT	0.448										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3295-3297)ttT>ttC		melanoma antigen family C, 1							136	124	128					X																	140996487		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996487T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3297T>C	X.37:g.140996487T>C		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.F166F	p.F1099F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3583	+	Acute lymphoblastic leukemia(192;6.56e-05)		1099			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3297T>C	CCDS35417.1																																																																																				0.448	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		53	193	0	0	0	1	0	53	193					C	140996487	T	C	140996487	2	2	510	1	0	0	0	0	0	0	0	1	9180	1780	62	3		3	MAGEC1	23	140996487	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	33057942	140996487	14274073	48	40548											
MAGEA8	4107	broad.mit.edu	37	chrX	149013818	149013818	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgggtgcaggagaacTacctggagtaccgccaggcg	16	9	0	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:149013818T>A	ENST00000542674.1	+	3	1293	c.772T>A	c.(772-774)Tac>Aac	p.Y258N	MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000535454.1_Missense_Mutation_p.Y258N	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	258	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGAACTACCTGGAGTA	0.577																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(772-774)Tac>Aac		melanoma antigen family A, 8							108	99	102					X																	149013818		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013818T>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.772T>A	X.37:g.149013818T>A	ENSP00000443776:p.Tyr258Asn					MAGEA8_ENST00000542674.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N	p.Y258N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1321	+	Acute lymphoblastic leukemia(192;6.56e-05)		258			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.772T>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.331871	0.41297	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.30981	1.51;1.51;1.51	1.0	1.0	0.19881	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	H	0.96748	3.875	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51092	-0.8749	10	0.87932	D	0	.	3.9106	0.09201	0.0:0.0:0.0:1.0	.	258	P43361	MAGA8_HUMAN	N	258	ENSP00000438293:Y258N;ENSP00000443776:Y258N;ENSP00000286482:Y258N	ENSP00000286482:Y258N	Y	+	1	0	MAGEA8	148774476	0.007000	0.16637	0.158000	0.22627	0.292000	0.27327	1.327000	0.33746	0.636000	0.30508	0.158000	0.16466	TAC		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		34	182	0	0	0	1	0	34	182					A	149013818	T	A	149013818	3	1	510	1	0	0	0	0	1	0	0	0	9171	1522	53	5	774	5	MAGEA8	23	149013818	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	8017331	149013818	6256742	49	40549											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898725	26898725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatcctaacccggatcGgcagtgggaagtttaccctc	11	11	0	0	rs369721857		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:26898725G>A	ENST00000374168.2	+	20	2042	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	630	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 hepatic stellate cell activation (GO:2000491)|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)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACCCGGATCGGCAGTGGGAA	0.547																																						ENST00000374168.2																			0				lung(1)	1						c.(1888-1890)Ggc>Agc		ribosomal protein S6 kinase, 90kDa, polypeptide 1		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	88	83	84		1915,1888	4.2	1	1		84	0,8600		0,0,4300	no	missense,missense	RPS6KA1	NM_001006665.1,NM_002953.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	639/745,630/736	26898725	1,13005	2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898725G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1888G>A	1.37:g.26898725G>A	ENSP00000363283:p.Gly630Ser					RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S	p.G630S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	20	2042	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	630			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1888G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994389	0.74703	2.27E-4	0.0	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.16	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046792	0.85682	D	0.000000	T	0.51517	0.1679	N	0.25647	0.755	0.80722	D	1	P;P	0.50066	0.857;0.931	B;B	0.43225	0.22;0.412	T	0.56444	-0.7978	10	0.52906	T	0.07	.	14.1739	0.65527	0.0729:0.0:0.9271:0.0	.	639;630	Q15418-2;Q15418	.;KS6A1_HUMAN	S	630;619;538;538;614;639	ENSP00000363283:G630S;ENSP00000363281:G619S;ENSP00000431651:G538S;ENSP00000363277:G538S;ENSP00000432281:G614S;ENSP00000435412:G639S	ENSP00000363277:G538S	G	+	1	0	RPS6KA1	26771312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.757000	0.85209	1.373000	0.46208	0.563000	0.77884	GGC		0.547	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		9	47	0	0	0	1	0	9	47					A	26898725	G	A	26898725	3	1	511	1	0	0	0	0	1	0	0	0	13650	1116	39	1	2105	1	RPS6KA1	1	26898725	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		26898725	222351896	1	40550											
PABPC4	8761	broad.mit.edu	37	chr1	40029555	40029555	+	Missense_Mutation	SNP	C	C	A													cttgctgggcggcaccagccCcaccaaagtccatagccaag							TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029555C>A	ENST00000372857.3	-	11	2237	c.1445G>T	c.(1444-1446)gGg>gTg	p.G482V	PABPC4_ENST00000372862.3_Intron|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCACCAGCCCCACCAAAGTC	0.587																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1444-1446)gGg>gTg		poly(A) binding protein, cytoplasmic 4 (inducible form)							71	70	70					1																	40029555		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029555C>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1445G>T	1.37:g.40029555C>A	ENSP00000361948:p.Gly482Val					PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	p.G482V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2237	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	482					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1445G>T	CCDS438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.80|13.80	2.345593|2.345593	0.41498|0.41498	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372858;ENST00000372857|ENST00000437136;ENST00000421687	T;T|T;T	0.48836|0.51817	2.44;0.8|0.69;2.46	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000030|0.000030	T|T	0.39989|0.39989	0.1099|0.1099	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.41770|0.41770	-0.9490|-0.9490	10|8	0.14252|0.66056	T|D	0.57|0.02	.|.	12.3787|12.3787	0.55295|0.55295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	482;498|.	Q13310;Q4VC03|.	PABP4_HUMAN;.|.	V|W	498;482|37;400	ENSP00000361949:G498V;ENSP00000361948:G482V|ENSP00000408559:G37W;ENSP00000398267:G400W	ENSP00000361948:G482V|ENSP00000398267:G400W	G|G	-|-	2|1	0|0	PABPC4|PABPC4	39802142|39802142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.489000|3.489000	0.53237|0.53237	2.633000|2.633000	0.89246|0.89246	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.587	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		11	32	1	0	0.010729	1	0.010729	11	32					A	40029555	C	A	40029555	3	1	511	1	0	0	0	0	1	0	0	0	11366	623	22	4	509	4	PABPC4	1	40029555	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	13130830	40029555	209221066	2	40551	165	2									
PABPC4	8761	broad.mit.edu	37	chr1	40029556	40029556	+	Missense_Mutation	SNP	C	C	A													ttgctgggcggcaccagcccCaccaaagtccatagccaagc							TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029556C>A	ENST00000372857.3	-	11	2236	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	PABPC4_ENST00000372862.3_Intron|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W|PABPC4_ENST00000372856.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACCAGCCCCACCAAAGTCC	0.582																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1444-1446)Ggg>Tgg		poly(A) binding protein, cytoplasmic 4 (inducible form)							71	70	70					1																	40029556		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029556C>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1444G>T	1.37:g.40029556C>A	ENSP00000361948:p.Gly482Trp					PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W|PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron	p.G482W	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2236	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	482					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1444G>T	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820431	0.50633	.	.	ENSG00000090621	ENST00000372858;ENST00000372857	T;T	0.50813	2.38;0.73	4.22	4.22	0.49857	.	0.000000	0.56097	D	0.000030	T	0.32436	0.0829	N	0.14661	0.345	0.80722	D	1	B;B	0.32396	0.0;0.369	B;B	0.36289	0.003;0.221	T	0.15896	-1.0421	10	0.37606	T	0.19	.	12.3787	0.55295	0.0:1.0:0.0:0.0	.	482;498	Q13310;Q4VC03	PABP4_HUMAN;.	W	498;482	ENSP00000361949:G498W;ENSP00000361948:G482W	ENSP00000361948:G482W	G	-	1	0	PABPC4	39802143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.489000	0.53237	2.633000	0.89246	0.561000	0.74099	GGG		0.582	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		11	31	1	0	0.010729	1	0.010729	11	31					A	40029556	C	A	40029556	3	1	511	1	0	0	0	0	1	0	0	0	11366	594	21	4	510	4	PABPC4	1	40029556	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	1	40029556	209221065	3	40552	165	2									
PTPRF	5792	broad.mit.edu	37	chr1	44010763	44010763	+	Frame_Shift_Del	DEL	C	C	-													ctggatggcccctgagccagCcccagggaggacgatggtgc							TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:44010763delC	ENST00000359947.4	+	3	357	c.17delC	c.(16-18)gccfs	p.A6fs	PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	6					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)				CCTGAGCCAGCCCCAGGGAGG	0.592																																						ENST00000359947.4																			0				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						c.(16-18)gcfs		protein tyrosine phosphatase, receptor type, F							57	41	46					1																	44010763		2199	4295	6494	SO:0001589	frameshift_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44010763delC	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.17delC	1.37:g.44010763delC	ENSP00000353030:p.Ala6fs					PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs	p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			3	357	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	6					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Frame_Shift_Del	DEL	ENST00000359947.4	37	c.17delC	CCDS489.2																																																																																				0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			2	4						2	4	---	---	---	---	-	44010763	C	-	44010763	7	5	511	1	0	1	0	1	0	0	0	0	12801	739	26	0	19	0	PTPRF	1	44010763	Frame_Shift_Del	DEL	C	TCGA-WY-A859-01A-12D-A36O-08	3981207	44010763	205239858	4	40553											
SELENBP1	8991	broad.mit.edu	37	chr1	151338088	151338088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgtcatactgcctcAggtccccatgcagccagttg	10	13	2	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:151338088A>G	ENST00000368868.5	-	9	1086	c.995T>C	c.(994-996)cTg>cCg	p.L332P	SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P|SELENBP1_ENST00000426705.2_Missense_Mutation_p.L374P	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	332					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			ATACTGCCTCAGGTCCCCATG	0.592																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(1120-1122)cTg>cCg		selenium binding protein 1							127	138	134					1																	151338088		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338088A>G	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.995T>C	1.37:g.151338088A>G	ENSP00000357861:p.Leu332Pro					SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000368868.5_Missense_Mutation_p.L332P|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P	p.L374P	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1265	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		332					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1121T>C	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.3|23.3	4.399047|4.399047	0.83120|0.83120	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071|ENST00000424475	T;T;T|.	0.36520|.	1.25;1.25;1.25|.	5.24|5.24	5.24|5.24	0.73138|0.73138	WD40/YVTN repeat-like-containing domain (1);|.	0.454938|.	0.23032|.	N|.	0.052733|.	T|.	0.63674|.	0.2531|.	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;P;P|.	0.59357|.	0.963;0.985;0.943;0.928;0.943|.	P;P;P;P;P|.	0.62649|.	0.671;0.905;0.776;0.718;0.853|.	T|.	0.65294|.	-0.6203|.	10|.	0.87932|.	D|.	0|.	-0.4125|-0.4125	13.9502|13.9502	0.64111|0.64111	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	270;292;185;268;332|.	B4E1F3;A6PVW8;B4DPI7;Q13228-2;Q13228|.	.;.;.;.;SBP1_HUMAN|.	P|R	332;270;268|293	ENSP00000357861:L332P;ENSP00000413960:L270P;ENSP00000408263:L268P|.	ENSP00000357861:L332P|.	L|X	-|-	2|1	0|0	SELENBP1|SELENBP1	149604712|149604712	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.816000|0.816000	0.46133|0.46133	8.589000|8.589000	0.90817|0.90817	1.983000|1.983000	0.57843|0.57843	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.592	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	97	0	0	0	1	0	4	97					G	151338088	A	G	151338088	3	3	511	1	0	0	0	0	1	0	0	0	14014	188	7	3	439	3	SELENBP1	1	151338088	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08	107327325	151338088	97912533	5	40554											
SEC16B	89866	broad.mit.edu	37	chr1	177929520	177929520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcatctcctcttgctcttCggaatcattaagaataacct	4	12	5	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:177929520C>T	ENST00000308284.6	-	8	1044	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.E320K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	319					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTTGCTCTTCGGAATCATTA	0.428																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(955-957)Gaa>Aaa		SEC16 homolog B (S. cerevisiae)							51	48	49					1																	177929520		1834	4098	5932	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177929520C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.955G>A	1.37:g.177929520C>T	ENSP00000308339:p.Glu319Lys					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Intron|SEC16B_ENST00000464631.1_Missense_Mutation_p.E320K	p.E319K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			8	1044	-			319					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.955G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	5.543	0.285077	0.10513	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	0.92;0.92	5.9	4.98	0.66077	Sec16, central conserved domain (1);	0.295166	0.31051	N	0.008342	T	0.20251	0.0487	L	0.28192	0.835	0.29659	N	0.84333	P;P;P	0.45827	0.707;0.867;0.472	B;B;B	0.32805	0.069;0.153;0.121	T	0.16100	-1.0414	10	0.06625	T	0.88	-29.7601	10.0739	0.42349	0.0:0.8596:0.0:0.1404	.	320;320;319	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	K	319;320	ENSP00000308339:E319K;ENSP00000431727:E320K	ENSP00000308339:E319K	E	-	1	0	AL359075.1	176196143	0.773000	0.28580	0.991000	0.47740	0.197000	0.23852	0.862000	0.27899	2.788000	0.95919	0.650000	0.86243	GAA		0.428	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		3	6	0	0	0	1	0	3	6					T	177929520	C	T	177929520	3	4	511	1	0	0	0	0	1	0	0	0	13987	893	31	1	2303	1	SEC16B	1	177929520	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	26591432	177929520	71321101	6	40555											
TTC30B	150737	broad.mit.edu	37	chr2	178416267	178416267	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcactgcctttttgaTagcttcatcatctctattgt	4	10	5	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:178416267T>G	ENST00000408939.3	-	1	1475	c.1225A>C	c.(1225-1227)Atc>Ctc	p.I409L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	409					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCCTTTTTGATAGCTTCATCA	0.398																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1225-1227)Atc>Ctc		tetratricopeptide repeat domain 30B							260	267	264					2																	178416267		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416267T>G	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1225A>C	2.37:g.178416267T>G	ENSP00000386181:p.Ile409Leu						p.I409L	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1475	-			409					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1225A>C	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	T	0.677	-0.799595	0.02841	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.37058	1.22	4.53	-0.00153	0.14034	Tetratricopeptide-like helical (1);	0.469325	0.23742	N	0.045010	T	0.12050	0.0293	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33624	-0.9861	10	0.02654	T	1	.	6.462	0.21962	0.0:0.5355:0.1678:0.2967	.	409	Q8N4P2	TT30B_HUMAN	L	362;409	ENSP00000386181:I409L	ENSP00000386181:I409L	I	-	1	0	TTC30B	178124513	0.781000	0.28676	0.529000	0.27951	0.955000	0.61496	0.061000	0.14366	-0.110000	0.12022	-0.408000	0.06270	ATC		0.398	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		5	220	0	0	0	1	0	5	220					G	178416267	T	G	178416267	3	3	511	1	0	0	0	0	1	0	0	0	16696	1406	49	5	776	5	TTC30B	2	178416267	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		178416267	64783106	7	40556											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	46	1	0	5.60225e-13	1	6.45477e-13	30	46					T	209113113	G	T	209113113	3	4	511	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	30696846	209113113	34086260	8	40557											
CCDC108	255101	broad.mit.edu	37	chr2	219869028	219869028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcccagctgctggagGgtacaggcaggattggcatt	13	11	0	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:219869028G>A	ENST00000341552.5	-	33	5284	c.5201C>T	c.(5200-5202)cCc>cTc	p.P1734L	CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1734						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)		GCTGCTGGAGGGTACAGGCAG	0.542																																						ENST00000341552.5																			0				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						c.(5200-5202)cCc>cTc		coiled-coil domain containing 108							172	164	167					2																	219869028		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219869028G>A	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.5201C>T	2.37:g.219869028G>A	ENSP00000340776:p.Pro1734Leu					CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA	p.P1734L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5284	-		Renal(207;0.0915)	1734					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.5201C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914586	0.33815	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07567	3.18;3.18;3.18	4.39	3.48	0.39840	.	0.423833	0.17662	N	0.166294	T	0.09423	0.0232	L	0.50333	1.59	0.26819	N	0.968824	P	0.36535	0.557	B	0.33620	0.167	T	0.13098	-1.0522	10	0.87932	D	0	-7.0126	12.2673	0.54684	0.0918:0.0:0.9082:0.0	.	1734	Q6ZU64	CC108_HUMAN	L	1734	ENSP00000340776:P1734L;ENSP00000413377:P1734L;ENSP00000409117:P1734L	ENSP00000340776:P1734L	P	-	2	0	CCDC108	219577272	0.005000	0.15991	0.185000	0.23176	0.034000	0.12701	1.361000	0.34136	2.190000	0.69967	0.511000	0.50034	CCC		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		64	79	0	0	0	1	0	64	79					A	219869028	G	A	219869028	3	1	511	1	0	0	0	0	1	0	0	0	2743	1232	43	2	588	2	CCDC108	2	219869028	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	10755915	219869028	23330345	9	40558											
EVC2	132884	broad.mit.edu	37	chr4	5630449	5630449	+	Frame_Shift_Del	DEL	C	C	-													ctggaaaaagtccattaactCttctacattctcctgtcaat							TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr4:5630449delC	ENST00000344408.5	-	12	1776	c.1723delG	c.(1723-1725)gagfs	p.E575fs	EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs|EVC2_ENST00000310917.2_Frame_Shift_Del_p.E495fs	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	575					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCATTAACTCTTCTACATTC	0.328																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1483-1485)agfs		Ellis van Creveld syndrome 2							72	76	74					4																	5630449		2203	4300	6503	SO:0001589	frameshift_variant	132884					integral to membrane		g.chr4:5630449delC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1723delG	4.37:g.5630449delC	ENSP00000342144:p.Glu575fs					EVC2_ENST00000344408.5_Frame_Shift_Del_p.E575fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs	p.E495fs	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			12	2214	-			575					Q86YT3|Q86YT4|Q8NG49	Frame_Shift_Del	DEL	ENST00000344408.5	37	c.1483delG	CCDS3382.2																																																																																				0.328	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		18	41						18	41	---	---	---	---	-	5630449	C	-	5630449	7	5	511	1	0	1	0	1	0	0	0	0	5286	922	32	0	2247	0	EVC2	4	5630449	Frame_Shift_Del	DEL	C	TCGA-WY-A859-01A-12D-A36O-08		5630449	185523827	10	40559											
HLA-DMA	3108	broad.mit.edu	37	chr6	32918314	32918314	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctggacaccgggatttTcccatcaagttttggcccta	8	13	2	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:32918314T>G	ENST00000374843.4	-	2	440	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q|XXbac-BPG181M17.5_ENST00000429234.1_Intron	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	119	Alpha-1.				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						ACCGGGATTTTCCCATCAAGT	0.488																																						ENST00000374843.4																			0				kidney(1)|large_intestine(2)|lung(8)	11						c.(355-357)Aaa>Caa		major histocompatibility complex, class II, DM alpha							168	204	191					6																	32918314		1507	2707	4214	SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32918314T>G		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.355A>C	6.37:g.32918314T>G	ENSP00000363976:p.Lys119Gln					HLA-DMA_ENST00000395305.3_Intron|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q	p.K119Q	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN			2	440	-			119					Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	c.355A>C	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.718883	0.30503	.	.	ENSG00000204257	ENST00000395303;ENST00000374843;ENST00000456800;ENST00000422832;ENST00000341486	T;T;T;T	0.00745	5.75;5.75;5.75;5.75	5.39	-8.67	0.00863	MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.353090	0.04457	N	0.373690	T	0.00178	0.0005	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41431	-0.9509	10	0.21540	T	0.41	.	9.248	0.37539	0.0668:0.0834:0.1344:0.7153	.	119;119	P28067;Q31604	DMA_HUMAN;.	Q	119;119;149;86;111	ENSP00000378714:K119Q;ENSP00000363976:K119Q;ENSP00000409668:K149Q;ENSP00000403122:K86Q	ENSP00000345804:K111Q	K	-	1	0	HLA-DMA	33026292	0.000000	0.05858	0.000000	0.03702	0.836000	0.47400	-5.230000	0.00139	-2.202000	0.00745	0.523000	0.50628	AAA		0.488	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		58	75	0	0	0	1	0	58	75					G	32918314	T	G	32918314	3	3	511	1	0	0	0	0	1	0	0	0	7198	1792	62	5	446	5	HLA-DMA	6	32918314	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		32918314	138196753	11	40560											
HEY2	23493	broad.mit.edu	37	chr6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgcctaacagaagttgCgcggtacctgagctccgtgg	14	10	0	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587																																						ENST00000368364.3																			2	Substitution - Missense(2)	p.A134V(2)	large_intestine(1)|lung(1)	breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(400-402)gCg>gTg		hes-related family bHLH transcription factor with YRPW motif 2							132	118	123					6																	126080335		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080335C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.401C>T	6.37:g.126080335C>T	ENSP00000357348:p.Ala134Val					HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	p.A134V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	598	+			134			Orange.			Missense_Mutation	SNP	ENST00000368364.3	37	c.401C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731357	0.69189	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.54071	0.59;0.59	5.54	5.54	0.83059	Orange subgroup (1);Orange (2);	0.066854	0.64402	D	0.000019	T	0.49575	0.1565	L	0.38838	1.175	0.80722	D	1	D	0.60160	0.987	P	0.56788	0.806	T	0.30794	-0.9966	10	0.25751	T	0.34	-8.5007	19.4671	0.94946	0.0:1.0:0.0:0.0	.	134	Q9UBP5	HEY2_HUMAN	V	88;134	ENSP00000357349:A88V;ENSP00000357348:A134V	ENSP00000357348:A134V	A	+	2	0	HEY2	126122028	1.000000	0.71417	0.959000	0.39883	0.214000	0.24535	7.736000	0.84948	2.606000	0.88127	0.561000	0.74099	GCG		0.587	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			22	56	0	0	0	1	0	22	56					T	126080335	C	T	126080335	3	4	511	1	0	0	0	0	1	0	0	0	7079	768	27	1	419	1	HEY2	6	126080335	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	93162021	126080335	45034732	12	40561											
HEY2	23493	broad.mit.edu	37	chr6	126080565	126080565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcagagtcaaccccttgtCgcctctccacaacttcagaa	5	17	4	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080565C>T	ENST00000368364.3	+	5	828	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	211					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AACCCCTTGTCGCCTCTCCAC	0.657																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(631-633)Cgc>Tgc		hes-related family bHLH transcription factor with YRPW motif 2							143	140	141					6																	126080565		2199	4300	6499	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080565C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.631C>T	6.37:g.126080565C>T	ENSP00000357348:p.Arg211Cys					HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	p.R211C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	828	+			211						Missense_Mutation	SNP	ENST00000368364.3	37	c.631C>T	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813984	0.70912	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59502	0.26;0.26	5.59	5.59	0.84812	.	0.423007	0.20963	N	0.082529	T	0.55081	0.1898	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.59487	0.858	T	0.57969	-0.7719	10	0.54805	T	0.06	-20.7655	12.6586	0.56801	0.2763:0.7237:0.0:0.0	.	211	Q9UBP5	HEY2_HUMAN	C	165;211	ENSP00000357349:R165C;ENSP00000357348:R211C	ENSP00000357348:R211C	R	+	1	0	HEY2	126122258	0.988000	0.35896	0.987000	0.45799	0.907000	0.53573	2.571000	0.45990	2.625000	0.88918	0.561000	0.74099	CGC		0.657	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			11	153	0	0	0	1	0	11	153					T	126080565	C	T	126080565	3	4	511	1	0	0	0	0	1	0	0	0	7079	884	31	1	649	1	HEY2	6	126080565	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	230	126080565	45034502	13	40562											
VIP	7432	broad.mit.edu	37	chr6	153075402	153075402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcattagctgaaaatgacaCaccctattatgatgtatcca	6	9	0	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:153075402C>A	ENST00000367244.3	+	3	381	c.209C>A	c.(208-210)aCa>aAa	p.T70K	VIP_ENST00000367243.3_Missense_Mutation_p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	70					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAAAATGACACACCCTATTAT	0.313																																						ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.(208-210)aCa>aAa		vasoactive intestinal peptide							94	92	92					6																	153075402		2203	4299	6502	SO:0001583	missense	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153075402C>A		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.209C>A	6.37:g.153075402C>A	ENSP00000356213:p.Thr70Lys					VIP_ENST00000367243.3_Missense_Mutation_p.T70K	p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	3	381	+		Ovarian(120;0.0654)	70					Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	c.209C>A	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.46|11.46	1.645100|1.645100	0.29246|0.29246	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000431366|ENST00000367244;ENST00000367243	.|T;T	.|0.21191	.|2.02;2.02	5.58|5.58	2.42|2.42	0.29668|0.29668	.|.	.|0.299990	.|0.31673	.|N	.|0.007247	T|T	0.02119|0.02119	0.0066|0.0066	N|N	0.11560|0.11560	0.145|0.145	0.28939|0.28939	N|N	0.891076|0.891076	.|B;B;B	.|0.09022	.|0.001;0.002;0.001	.|B;B;B	.|0.08055	.|0.001;0.003;0.001	T|T	0.46133|0.46133	-0.9213|-0.9213	5|10	.|0.02654	.|T	.|1	.|.	6.907|6.907	0.24315|0.24315	0.5573:0.3523:0.0:0.0904|0.5573:0.3523:0.0:0.0904	.|.	.|70;70;70	.|A8K7E4;P01282-2;P01282	.|.;.;VIP_HUMAN	Q|K	19|70	.|ENSP00000356213:T70K;ENSP00000356212:T70K	.|ENSP00000356212:T70K	H|T	+|+	3|2	2|0	VIP|VIP	153117095|153117095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	2.175000|2.175000	0.42491|0.42491	1.332000|1.332000	0.45431|0.45431	0.585000|0.585000	0.79938|0.79938	CAC|ACA		0.313	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			13	39	1	0	4.14922e-12	1	4.6789e-12	13	39					A	153075402	C	A	153075402	3	1	511	1	0	0	0	0	1	0	0	0	17164	478	17	4	215	4	VIP	6	153075402	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	26994837	153075402	18039665	14	40563											
SUN1	23353	broad.mit.edu	37	chr7	893044	893044	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttctctcttgccatttcAgggtgacagtgaggcttttc	9	10	3	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:893044A>G	ENST00000405266.1	+	11	1188		c.e11-1		SUN1_ENST00000456758.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000425407.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCATTTCAGGGTGACAGT	0.527																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e16-1		Sad1 and UNC84 domain containing 1							79	79	79					7																	893044		2093	4218	6311	SO:0001630	splice_region_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:893044A>G	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1165-1A>G	7.37:g.893044A>G						SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site				O94901	SUN1_HUMAN			16	1620	+								A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Splice_Site	SNP	ENST00000405266.1	37			.	.	.	.	.	.	.	.	.	.	A	13.60	2.284652	0.40394	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514;ENST00000433212	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5563	0.61761	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUN1	859570	0.998000	0.40836	0.555000	0.28281	0.049000	0.14656	5.022000	0.64078	2.089000	0.63090	0.533000	0.62120	.		0.527	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	Intron	4	44	0	0	0	1	0	4	44					G	893044	A	G	893044	5	3	511	1	0	0	0	0	0	0	1	0	15388	202	7	3	1273	3	SUN1	7	893044	Splice_Site	SNP	A	TCGA-WY-A859-01A-12D-A36O-08		893044	158245619	15	40564											
LRCH4	4034	broad.mit.edu	37	chr7	100173893	100173893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtcattaagtccttctcatCtggaacctgggggtaccgcc	10	12	3	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100173893C>T	ENST00000310300.6	-	15	1658	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	SAP25_ENST00000538735.1_5'Flank|LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	536	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					TCCTTCTCATCTGGAACCTGG	0.637																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1606-1608)Gat>Aat		leucine-rich repeats and calponin homology (CH) domain containing 4							34	36	35					7																	100173893		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100173893C>T	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.1606G>A	7.37:g.100173893C>T	ENSP00000309689:p.Asp536Asn					LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	p.D536N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			15	1658	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		536			CH.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.1606G>A	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161105	0.21538	.	.	ENSG00000077454	ENST00000310300;ENST00000497245	T;T	0.44881	1.45;0.91	4.14	3.24	0.37175	Calponin homology domain (1);	0.189518	0.45606	D	0.000349	T	0.31040	0.0784	L	0.44542	1.39	0.09310	N	1	B;B	0.25772	0.079;0.134	B;B	0.21360	0.021;0.034	T	0.24621	-1.0155	10	0.66056	D	0.02	-12.2889	7.1311	0.25502	0.0:0.879:0.0:0.121	.	84;536	C9JYK0;O75427	.;LRCH4_HUMAN	N	536;84	ENSP00000309689:D536N;ENSP00000419870:D84N	ENSP00000309689:D536N	D	-	1	0	LRCH4	100011829	0.860000	0.29831	0.111000	0.21465	0.220000	0.24768	2.383000	0.44354	2.309000	0.77851	0.555000	0.69702	GAT		0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		12	14	0	0	0	1	0	12	14					T	100173893	C	T	100173893	3	4	511	1	0	0	0	0	1	0	0	0	8935	913	32	2	461	2	LRCH4	7	100173893	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	99280849	100173893	58964770	16	40565											
GNB2	2783	broad.mit.edu	37	chr7	100275813	100275813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggcccccgatggccGcacgtttgtgtcaggcgcct	13	16	1	0	rs139214321		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100275813G>A	ENST00000303210.4	+	8	1072	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GNB2_ENST00000424361.1_Missense_Mutation_p.R153H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000393926.1_Missense_Mutation_p.R197H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	197					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCCGATGGCCGCACGTTTGTG	0.587																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(589-591)cGc>cAc		guanine nucleotide binding protein (G protein), beta polypeptide 2		G	HIS/ARG	1,4405		0,1,2202	134	124	127		590	4.7	1	7	dbSNP_134	127	2,8598		0,2,4298	yes	missense	GNB2	NM_005273.3	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	197/341	100275813	3,13003	2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275813G>A	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.590G>A	7.37:g.100275813G>A	ENSP00000305260:p.Arg197His					GNB2_ENST00000393926.1_Missense_Mutation_p.R197H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000424361.1_Missense_Mutation_p.R153H	p.R197H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			8	1072	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	197					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.590G>A	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.146301	0.77888	2.27E-4	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	4.69	4.69	0.59074	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	0.53578	0.1805	L	0.35487	1.065	0.46749	D	0.999184	P	0.41232	0.743	P	0.44696	0.458	T	0.59568	-0.7430	10	0.66056	D	0.02	-8.1064	15.1526	0.72713	0.0:0.0:1.0:0.0	.	197	P62879	GBB2_HUMAN	H	197;197;153;153;97;97;197;197;197	ENSP00000305260:R197H;ENSP00000399904:R197H;ENSP00000401873:R153H;ENSP00000389391:R153H;ENSP00000390543:R97H;ENSP00000400286:R97H;ENSP00000377503:R197H;ENSP00000390077:R197H;ENSP00000377501:R197H	ENSP00000305260:R197H	R	+	2	0	GNB2	100113749	1.000000	0.71417	0.972000	0.41901	0.872000	0.50106	2.089000	0.41672	2.437000	0.82529	0.462000	0.41574	CGC		0.587	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		4	105	0	0	0	1	0	4	105					A	100275813	G	A	100275813	3	1	511	1	0	0	0	0	1	0	0	0	6517	1087	38	1	616	1	GNB2	7	100275813	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	101920	100275813	58862850	17	40566											
MUC17	140453	broad.mit.edu	37	chr7	100676909	100676909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatggtgccagtatgCcaacctcaactcctagtgaa	9	12	1	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100676909C>T	ENST00000306151.4	+	3	2276	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	738	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)	p.P738S(1)		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)					TGCCAGTATGCCAACCTCAAC	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P738S(1)	kidney(1)	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						c.(2212-2214)Cca>Tca		mucin 17, cell surface associated							309	307	308					7																	100676909		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676909C>T	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.2212C>T	7.37:g.100676909C>T	ENSP00000302716:p.Pro738Ser						p.P738S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2276	+	Lung NSC(181;0.136)|all_lung(186;0.182)		738			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2212C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.295	-0.606490	0.03717	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.22	-1.07	0.09968	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.48364	-0.9042	9	0.07990	T	0.79	.	4.1751	0.10348	0.0:0.5457:0.0:0.4543	.	738	Q685J3	MUC17_HUMAN	S	738	ENSP00000302716:P738S	ENSP00000302716:P738S	P	+	1	0	MUC17	100463629	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.249000	0.02888	-0.341000	0.08376	-0.531000	0.04308	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	403	0	0	0	1	0	6	403					T	100676909	C	T	100676909	3	4	511	1	0	0	0	0	1	0	0	0	9974	739	26	2	2222	2	MUC17	7	100676909	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	401096	100676909	58461754	18	40567											
TSPAN33	340348	broad.mit.edu	37	chr7	128804401	128804401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacctcattgattttggCcagaaaaaggtatgggtcag	11	7	2	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:128804401C>T	ENST00000289407.4	+	5	559	c.450C>T	c.(448-450)ggC>ggT	p.G150G	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	150					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.G150G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGATTTTGGCCAGAAAAAGG	0.512											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000289407.4																			1	Substitution - coding silent(1)	p.G150G(1)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(448-450)ggC>ggT		tetraspanin 33							160	146	151					7																	128804401		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128804401C>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.450C>T	7.37:g.128804401C>T			OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567		p.G150G	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			5	559	+			150						Silent	SNP	ENST00000289407.4	37	c.450C>T	CCDS5810.1																																																																																				0.512	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		3	46	0	0	0	1	0	3	46					T	128804401	C	T	128804401	2	4	511	1	0	0	0	0	0	0	0	1	16645	726	26	2		2	TSPAN33	7	128804401	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	28127492	128804401	30334262	19	40568											
IFNA6	3443	broad.mit.edu	37	chr9	21350375	21350375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaagagaaggatctcatgAtttctgctctgacaacctcc	8	10	3	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:21350375A>G	ENST00000380210.1	-	1	1002	c.512T>C	c.(511-513)aTc>aCc	p.I171T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	171					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)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCTCATGATTTCTGCTCT	0.448																																						ENST00000380210.1																			0				large_intestine(3)|lung(7)|skin(1)	11						c.(511-513)aTc>aCc		interferon, alpha 6							290	284	286					9																	21350375		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350375A>G		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"Interferons"	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.512T>C	9.37:g.21350375A>G	ENSP00000369558:p.Ile171Thr						p.I171T	NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	1002	-			171					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.512T>C	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732188	0.48939	.	.	ENSG00000120235	ENST00000380210	T	0.09073	3.02	3.78	2.63	0.31362	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.552015	0.19254	N	0.118845	T	0.28699	0.0711	M	0.79693	2.465	0.09310	N	1	P	0.38395	0.629	D	0.71870	0.975	T	0.05321	-1.0892	10	0.62326	D	0.03	.	6.7882	0.23685	0.8847:0.0:0.1153:0.0	.	171	P05013	IFNA6_HUMAN	T	171	ENSP00000369558:I171T	ENSP00000369558:I171T	I	-	2	0	IFNA6	21340375	0.293000	0.24371	0.019000	0.16419	0.382000	0.30200	2.375000	0.44283	0.440000	0.26502	0.482000	0.46254	ATC		0.448	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		60	205	0	0	0	1	0	60	205					G	21350375	A	G	21350375	3	3	511	1	0	0	0	0	1	0	0	0	7541	333	12	3	59	3	IFNA6	9	21350375	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08		21350375	119863056	20	40569											
OLFML2A	169611	broad.mit.edu	37	chr9	127549423	127549423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgggcactgactgccGctgctcctgtaccgcacctc	11	17	0	1	rs539442504		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:127549423G>A	ENST00000373580.3	+	2	260	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	87					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACTGACTGCCGCTGCTCCTGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16903	0.0		0.0	False		,,,				2504	0.001					ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(259-261)cGc>cAc		olfactomedin-like 2A							49	58	55					9																	127549423		2163	4263	6426	SO:0001583	missense	169611							g.chr9:127549423G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.260G>A	9.37:g.127549423G>A	ENSP00000362682:p.Arg87His						p.R87H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			2	260	+			87					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.260G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123988	0.77436	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.42900	0.96;0.96	5.73	5.73	0.89815	.	0.181335	0.38897	N	0.001538	T	0.59307	0.2184	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.947	T	0.62234	-0.6897	10	0.87932	D	0	.	8.9292	0.35659	0.1562:0.0:0.8438:0.0	.	87;87	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	H	87	ENSP00000336425:R87H;ENSP00000362682:R87H	ENSP00000336425:R87H	R	+	2	0	OLFML2A	126589244	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.457000	0.53007	2.699000	0.92147	0.655000	0.94253	CGC		0.627	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		9	18	0	0	0	1	0	9	18					A	127549423	G	A	127549423	3	1	511	1	0	0	0	0	1	0	0	0	10857	1087	38	1	266	1	OLFML2A	9	127549423	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	106199048	127549423	13664008	21	40570											
NUP188	23511	broad.mit.edu	37	chr9	131755536	131755536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggctgccattcgtgatgccTtcctgacccgattgcagagc	11	14	0	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:131755536T>C	ENST00000372577.2	+	26	2722	c.2701T>C	c.(2701-2703)Ttc>Ctc	p.F901L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	901					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						TCGTGATGCCTTCCTGACCCG	0.532											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372577.2																			0				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						c.(2701-2703)Ttc>Ctc		nucleoporin 188kDa							133	125	128					9																	131755536		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131755536T>C	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.2701T>C	9.37:g.131755536T>C	ENSP00000361658:p.Phe901Leu		OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.F901L	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			26	2722	+			901					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2701T>C	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	T	36	5.645691	0.96704	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.53857	0.6	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	L	0.29908	0.895	0.80722	D	1	P;D	0.63046	0.536;0.992	B;D	0.76071	0.223;0.987	T	0.60860	-0.7179	10	0.39692	T	0.17	-15.9844	15.6859	0.77409	0.0:0.0:0.0:1.0	.	234;901	E9PET9;Q5SRE5	.;NU188_HUMAN	L	790;901	ENSP00000361658:F901L	ENSP00000349125:F790L	F	+	1	0	NUP188	130795357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.502000	0.81614	2.297000	0.77311	0.533000	0.62120	TTC		0.532	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			9	91	0	0	0	1	0	9	91					C	131755536	T	C	131755536	3	2	511	1	0	0	0	0	1	0	0	0	10758	1609	56	3	2803	3	NUP188	9	131755536	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08	4206113	131755536	9457895	22	40571											
OR4D11	219986	broad.mit.edu	37	chr11	59271628	59271628	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacttgcactgacacttttGctcttgagttcttgatgatt	7	9	3	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr11:59271628G>T	ENST00000313253.1	+	1	580	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	194						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(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGACACTTTTGCTCTTGAGTT	0.493																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(580-582)Gct>Tct		olfactory receptor, family 4, subfamily D, member 11							234	221	226					11																	59271628		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271628G>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.580G>T	11.37:g.59271628G>T	ENSP00000320077:p.Ala194Ser						p.A194S	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	580	+			194						Missense_Mutation	SNP	ENST00000313253.1	37	c.580G>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	6.454	0.451999	0.12283	.	.	ENSG00000176200	ENST00000313253	T	0.00076	8.76	5.44	-5.93	0.02254	GPCR, rhodopsin-like superfamily (1);	1.146050	0.06555	N	0.745682	T	0.00073	0.0002	N	0.16478	0.41	0.09310	N	1	B	0.09022	0.002	B	0.18263	0.021	T	0.15037	-1.0451	10	0.56958	D	0.05	-0.2591	3.1557	0.06503	0.2637:0.1912:0.449:0.0961	.	194	Q8NGI4	OR4DB_HUMAN	S	194	ENSP00000320077:A194S	ENSP00000320077:A194S	A	+	1	0	OR4D11	59028204	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.387000	0.07361	-0.401000	0.07644	-0.484000	0.04775	GCT		0.493	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		39	62	1	0	2.87052e-16	1	3.38083e-16	39	62					T	59271628	G	T	59271628	3	4	511	1	0	0	0	0	1	0	0	0	11055	1319	46	4	582	4	OR4D11	11	59271628	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		59271628	75734888	23	40572											
DCP1B	196513	broad.mit.edu	37	chr12	2062420	2062420	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttcccaaacagagctGtcaaggataagtgttggggt	12	9	1	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr12:2062420G>C	ENST00000280665.6	-	7	765	c.686C>G	c.(685-687)aCa>aGa	p.T229R	DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	229					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)			AAACAGAGCTGTCAAGGATAA	0.473																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(685-687)aCa>aGa		decapping mRNA 1B							55	59	58					12																	2062420		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062420G>C	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.686C>G	12.37:g.2062420G>C	ENSP00000280665:p.Thr229Arg					DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R|DCP1B_ENST00000541700.1_5'UTR	p.T229R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	765	-			229					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.686C>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815378	0.50527	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.21;2.21;2.13	4.93	1.07	0.20283	.	0.286606	0.39909	N	0.001237	T	0.27967	0.0689	M	0.65975	2.015	0.38004	D	0.93432	P;D	0.55800	0.952;0.973	P;P	0.49752	0.621;0.549	T	0.12218	-1.0556	10	0.54805	T	0.06	-2.0388	9.1971	0.37235	0.3008:0.0:0.6992:0.0	.	127;229	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	R	229;127;103	ENSP00000280665:T229R;ENSP00000380358:T127R;ENSP00000444374:T103R	ENSP00000280665:T229R	T	-	2	0	DCP1B	1932681	0.987000	0.35691	0.702000	0.30337	0.749000	0.42624	1.047000	0.30367	0.026000	0.15269	-0.157000	0.13467	ACA		0.473	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		17	21	0	0	0	1	0	17	21					C	2062420	G	C	2062420	3	2	511	1	0	0	0	0	1	0	0	0	4299	1377	48	4	1179	4	DCP1B	12	2062420	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		2062420	131789475	24	40573											
TRPC4	7223	broad.mit.edu	37	chr13	38357404	38357404	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagttctgattctgctcttaCtatccttagagggatgcggt	11	8	3	2	rs536515396		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr13:38357404C>A	ENST00000379705.3	-	2	924	c.67G>T	c.(67-69)Gta>Tta	p.V23L	TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	23					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)		TCTGCTCTTACTATCCTTAGA	0.423																																						ENST00000379705.3																			0				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						c.(67-69)Gta>Tta		transient receptor potential cation channel, subfamily C, member 4							147	138	141					13																	38357404		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357404C>A	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.67G>T	13.37:g.38357404C>A	ENSP00000369027:p.Val23Leu					TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L|TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L	p.V23L			Q9UBN4	TRPC4_HUMAN		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)	2	924	-			23					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.67G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536552	0.85812	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.74526	-0.23;-0.23;0.06;0.06;-0.85;0.31;-0.15;-0.41;0.31	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	L	0.34521	1.04	0.48040	D	0.999576	P;P;P;P;P;P	0.48998	0.857;0.918;0.738;0.738;0.857;0.908	P;P;B;B;P;P	0.51385	0.668;0.596;0.276;0.276;0.668;0.607	T	0.64984	-0.6278	10	0.02654	T	1	-27.1189	20.8598	0.99761	0.0:1.0:0.0:0.0	.	23;23;23;23;23;23	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	L	23	ENSP00000369027:V23L;ENSP00000369003:V23L;ENSP00000342580:V23L;ENSP00000369001:V23L;ENSP00000410133:V23L;ENSP00000348025:V23L;ENSP00000351264:V23L;ENSP00000368995:V23L;ENSP00000414316:V23L	ENSP00000342580:V23L	V	-	1	0	TRPC4	37255404	1.000000	0.71417	0.661000	0.29709	0.936000	0.57629	6.023000	0.70848	2.937000	0.99478	0.650000	0.86243	GTA		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		15	85	1	0	4.7546e-09	1	5.24988e-09	15	85					A	38357404	C	A	38357404	3	1	511	1	0	0	0	0	1	0	0	0	16577	565	20	4	2921	4	TRPC4	13	38357404	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08		38357404	76812474	25	40574											
NEIL1	79661	broad.mit.edu	37	chr15	75641378	75641378	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctttgagagcagtgcCtaccgcatctcagcttcagc	10	14	2	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:75641378C>G	ENST00000564784.1	+	3	761	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000355059.4_Silent_p.A44A			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	44					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGAGCAGTGCCTACCGCATCT	0.652								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(130-132)gcC>gcG	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							46	41	42					15																	75641378		2197	4294	6491	SO:0001819	synonymous_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641378C>G	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.132C>G	15.37:g.75641378C>G						NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000355059.4_Silent_p.A44A|NEIL1_ENST00000567959.1_Intron	p.A44A			Q96FI4	NEIL1_HUMAN			3	761	+			44					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	c.132C>G	CCDS10278.1																																																																																				0.652	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		15	33	0	0	0	1	0	15	33					G	75641378	C	G	75641378	2	3	511	1	0	0	0	0	0	0	0	1	10318	668	24	4		4	NEIL1	15	75641378	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08		75641378	26890014	26	40575											
BTBD12	84464	broad.mit.edu	37	chr16	3632640	3632640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcactgacctccccctcGccctcctcttcacctgcaga	7	20	2	2	rs569225834	byFrequency	TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:3632640G>A	ENST00000294008.3	-	15	5848	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1736	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						CCTCCCCCTCGCCCTCCTCTT	0.617								Direct reversal of damage					G|||	2	0.000399361	0.0	0.0014	5008	,	,		15391	0.0		0.001	False		,,,				2504	0.0					ENST00000294008.3																			0				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						c.(5206-5208)ggC>ggT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							39	39	39					16																	3632640		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3632640G>A	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.5208C>T	16.37:g.3632640G>A						RP11-461A8.1_ENST00000573982.1_lincRNA	p.G1736G	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			15	5848	-			1736			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.5208C>T	CCDS10506.2																																																																																				0.617	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		9	11	0	0	0	1	0	9	11					A	3632640	G	A	3632640	2	1	511	1	0	0	0	0	0	0	0	1	1540	1074	38	1		1	BTBD12	16	3632640	Silent	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		3632640	86722113	27	40576											
ZNF629	23361	broad.mit.edu	37	chr16	30793291	30793291	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggtgtgggtttcttgGtgccgggtgagggccacgcg	19	9	1	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:30793291G>C	ENST00000262525.4	-	3	2565	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	786					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(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGTTTCTTGGTGCCGGGTGA	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2356-2358)caC>caG		zinc finger protein 629							85	100	95					16																	30793291		1908	4116	6024	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793291G>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2358C>G	16.37:g.30793291G>C	ENSP00000262525:p.His786Gln						p.H786Q	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2565	-			786					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2358C>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422759	0.62733	.	.	ENSG00000102870	ENST00000262525	T	0.35048	1.33	5.65	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000473	T	0.58595	0.2133	M	0.87827	2.91	0.32710	N	0.511763	D	0.69078	0.997	D	0.68039	0.955	T	0.69146	-0.5222	10	0.87932	D	0	-36.8824	9.6059	0.39632	0.3009:0.0:0.6991:0.0	.	786	Q9UEG4	ZN629_HUMAN	Q	786	ENSP00000262525:H786Q	ENSP00000262525:H786Q	H	-	3	2	ZNF629	30700792	0.539000	0.26402	0.998000	0.56505	0.763000	0.43281	0.950000	0.29122	0.328000	0.23435	0.561000	0.74099	CAC		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		47	85	0	0	0	1	0	47	85					C	30793291	G	C	30793291	3	2	511	1	0	0	0	0	1	0	0	0	18050	1252	44	4	255	4	ZNF629	16	30793291	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	27160651	30793291	59561462	28	40577											
N4BP1	9683	broad.mit.edu	37	chr16	48595409	48595409	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattttctttttcaatttccTctaagagcaataatggttca	4	7	4	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:48595409T>A	ENST00000262384.3	-	2	1381	c.1145A>T	c.(1144-1146)gAg>gTg	p.E382V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	382					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAATTTCCTCTAAGAGCAA	0.343																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(1144-1146)gAg>gTg		NEDD4 binding protein 1							47	46	46					16																	48595409		1809	4069	5878	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595409T>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1145A>T	16.37:g.48595409T>A	ENSP00000262384:p.Glu382Val					RP11-44I10.3_ENST00000563994.1_RNA	p.E382V	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	1381	-		all_cancers(37;0.179)|all_lung(18;0.11)	382					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1145A>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647872	0.67358	.	.	ENSG00000102921	ENST00000262384	T	0.58358	0.34	5.78	4.69	0.59074	.	0.045675	0.85682	D	0.000000	T	0.57621	0.2066	L	0.34521	1.04	0.51482	D	0.999921	D	0.63880	0.993	P	0.60949	0.881	T	0.60378	-0.7275	10	0.87932	D	0	-20.8692	11.7993	0.52118	0.0:0.0685:0.0:0.9315	.	382	O75113	N4BP1_HUMAN	V	382	ENSP00000262384:E382V	ENSP00000262384:E382V	E	-	2	0	N4BP1	47152910	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.365000	0.79537	1.027000	0.39758	0.533000	0.62120	GAG		0.343	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		18	38	0	0	0	1	0	18	38					A	48595409	T	A	48595409	3	1	511	1	0	0	0	0	1	0	0	0	10109	1551	54	5	1569	5	N4BP1	16	48595409	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08	17802118	48595409	41759344	29	40578											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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)				TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	5	0	0	0	1	0	31	5					A	7577539	G	A	7577539	3	1	511	1	0	0	0	0	1	0	0	0	16378	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		7577539	73617671	30	40579											
MRPL38	64978	broad.mit.edu	37	chr17	73895047	73895047	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggggcggccgcacgaactCaaacaccggctcccgcatgt	13	15	1	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:73895047C>T	ENST00000309352.3	-	9	1564	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000585475.1_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	343						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCACGAACTCAAACACCGGC	0.682																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(1027-1029)Gag>Aag		mitochondrial ribosomal protein L38							23	28	27					17																	73895047		2199	4298	6497	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895047C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"Mitochondrial ribosomal proteins / large subunits"	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.1027G>A	17.37:g.73895047C>T	ENSP00000308275:p.Glu343Lys					MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K|RP11-552F3.10_ENST00000587267.1_RNA	p.E343K	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1564	-			343					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.1027G>A	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	36	5.630079	0.96671	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.22945	1.93;1.93	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.78344	2.41	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.54827	-0.8235	10	0.51188	T	0.08	-30.4661	17.5946	0.88007	0.0:1.0:0.0:0.0	.	343	Q96DV4	RM38_HUMAN	K	343;159	ENSP00000308275:E343K;ENSP00000387085:E159K	ENSP00000308275:E343K	E	-	1	0	MRPL38	71406642	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	5.590000	0.67530	2.380000	0.81148	0.511000	0.50034	GAG		0.682	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		4	21	0	0	0	1	0	4	21					T	73895047	C	T	73895047	3	4	511	1	0	0	0	0	1	0	0	0	9801	835	29	2	119	2	MRPL38	17	73895047	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	66317508	73895047	7300163	31	40580											
MUC16	94025	broad.mit.edu	37	chr19	9087491	9087491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggagcaaggaccagggGttcccctgggacatcagaag	15	10	1	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:9087491G>A	ENST00000397910.4	-	1	4527	c.4324C>T	c.(4324-4326)Ccc>Tcc	p.P1442S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1442	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						AGGACCAGGGGTTCCCCTGGG	0.522																																						ENST00000397910.4																			0				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						c.(4324-4326)Ccc>Tcc		mucin 16, cell surface associated							114	111	112					19																	9087491		1961	4145	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087491G>A	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.4324C>T	19.37:g.9087491G>A	ENSP00000381008:p.Pro1442Ser						p.P1442S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4527	-			1442			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4324C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.361	-0.588833	0.03799	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.0	-0.165	0.13355	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.42582	-0.9443	8	0.87932	D	0	.	2.9232	0.05776	0.6308:0.0:0.3692:0.0	.	1442	B5ME49	.	S	1442	ENSP00000381008:P1442S	ENSP00000381008:P1442S	P	-	1	0	MUC16	8948491	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.113000	0.10774	-0.105000	0.12132	0.305000	0.20034	CCC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	66	0	0	0	1	0	12	66					A	9087491	G	A	9087491	3	1	511	1	0	0	0	0	1	0	0	0	9973	1261	44	2	39535	2	MUC16	19	9087491	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		9087491	50041492	32	40581											
KRTDAP	388533	broad.mit.edu	37	chr19	35979707	35979707	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacagacggcttacctcGggtcgtgacgcataattctc	10	11	1	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:35979707G>T	ENST00000338897.3	-	2	211	c.123C>A	c.(121-123)ccC>ccA	p.P41P	KRTDAP_ENST00000479340.1_5'UTR|KRTDAP_ENST00000484218.2_Silent_p.P41P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	41					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCTTACCTCGGGTCGTGACG	0.552																																						ENST00000338897.3																			0				breast(1)|lung(4)|prostate(1)	6						c.(121-123)ccC>ccA		keratinocyte differentiation-associated protein							62	60	60					19																	35979707		2203	4300	6503	SO:0001819	synonymous_variant	388533				cell differentiation	extracellular region		g.chr19:35979707G>T	AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.123C>A	19.37:g.35979707G>T						KRTDAP_ENST00000484218.2_Silent_p.P41P|KRTDAP_ENST00000479340.1_5'UTR	p.P41P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	211	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		41					A1L4D7	Silent	SNP	ENST00000338897.3	37	c.123C>A	CCDS12462.1																																																																																				0.552	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340164.1			4	14	1	0	0.00024832	1	0.000263219	4	14					T	35979707	G	T	35979707	2	4	511	1	0	0	0	0	0	0	0	1	8580	1103	39	4		4	KRTDAP	19	35979707	Silent	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	26892216	35979707	23149276	33	40582											
PIWIL3	440822	broad.mit.edu	37	chr22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgtacccgttaggcccTttttccatctgccctggctg	10	13	1	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|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	385	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				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						CGTTAGGCCCTTTTTCCATCT	0.468																																						ENST00000332271.5																			0				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						c.(1153-1155)aAg>aGg		piwi-like RNA-mediated gene silencing 3							154	120	132					22																	25145722		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25145722T>C	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.1154A>G	22.37:g.25145722T>C	ENSP00000330031:p.Lys385Arg					PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R	p.K385R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			10	1570	-			385			PAZ.			Missense_Mutation	SNP	ENST00000332271.5	37	c.1154A>G	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	3.944	-0.013729	0.07681	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10099	2.91;2.91;2.91	2.29	-0.0014	0.14034	Argonaute/Dicer protein, PAZ (4);	0.721096	0.12611	U	0.453910	T	0.04770	0.0129	N	0.20881	0.62	0.24410	N	0.994662	B;B;B	0.21381	0.055;0.034;0.009	B;B;B	0.25291	0.059;0.03;0.024	T	0.42932	-0.9422	10	0.05351	T	0.99	-10.9833	1.8165	0.03102	0.2778:0.1706:0.0:0.5517	.	276;385;385	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	R	385;276;276	ENSP00000330031:K385R;ENSP00000431843:K276R;ENSP00000435718:K276R	ENSP00000330031:K385R	K	-	2	0	PIWIL3	23475722	0.986000	0.35501	0.663000	0.29738	0.233000	0.25261	0.006000	0.13152	-0.056000	0.13221	0.260000	0.18958	AAG		0.468	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		3	53	0	0	0	1	0	3	53					C	25145722	T	C	25145722	3	2	511	1	0	0	0	0	1	0	0	0	11959	1609	56	3	1542	3	PIWIL3	22	25145722	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		25145722	26158844	34	40583											
NHS	4810	broad.mit.edu	37	chrX	17750115	17750115	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatgtgacaacccccaacaGccagaggtctcctggtctca	8	14	2	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:17750115G>T	ENST00000380060.3	+	8	4762	c.4424G>T	c.(4423-4425)aGc>aTc	p.S1475I	NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1496	Poly-Ser.				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)					ACCCCCAACAGCCAGAGGTCT	0.498																																						ENST00000380060.3																			0				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						c.(4423-4425)aGc>aTc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							153	136	142					X																	17750115		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750115G>T		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.4424G>T	X.37:g.17750115G>T	ENSP00000369400:p.Ser1475Ile					NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	p.S1475I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4762	+	Hepatocellular(33;0.183)		1475					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4424G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277728	0.59758	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52295	0.67;0.67	5.79	5.79	0.91817	.	0.308380	0.40064	N	0.001184	T	0.65647	0.2711	M	0.66939	2.045	0.43874	D	0.996488	D;D;D;D	0.69078	0.992;0.986;0.986;0.997	P;P;P;D	0.75020	0.862;0.769;0.769;0.985	T	0.64283	-0.6444	10	0.39692	T	0.17	-17.5031	14.5463	0.68032	0.0:0.1419:0.8581:0.0	.	1496;1317;1319;1475	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	I	1475;1319;1317	ENSP00000369400:S1475I;ENSP00000381170:S1319I	ENSP00000369397:S1317I	S	+	2	0	NHS	17660036	1.000000	0.71417	0.999000	0.59377	0.735000	0.41995	3.376000	0.52417	2.435000	0.82474	0.600000	0.82982	AGC		0.498	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		40	85	1	0	5.43694e-19	1	6.54904e-19	40	85					T	17750115	G	T	17750115	3	4	511	1	0	0	0	0	1	0	0	0	10411	971	34	4	4559	4	NHS	23	17750115	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		17750115	137520445	35	40584											
APOO	79135	broad.mit.edu	37	chrX	23899026	23899026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgcatagactttgaagGtgagcaagctcaggctggct	14	8	1	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:23899026G>T	ENST00000379226.4	-	2	284	c.53C>A	c.(52-54)aCc>aAc	p.T18N	APOO_ENST00000379220.3_Missense_Mutation_p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	18					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACTTTGAAGGTGAGCAAGCT	0.448																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(52-54)aCc>aAc		apolipoprotein O							78	68	72					X																	23899026		2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23899026G>T	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"Apolipoproteins"	28727	protein-coding gene	gene with protein product		300753	"family with sequence similarity 121B"	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.53C>A	X.37:g.23899026G>T	ENSP00000368528:p.Thr18Asn					APOO_ENST00000379220.3_Missense_Mutation_p.T18N	p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			2	284	-			18					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.53C>A	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903070	0.52227	.	.	ENSG00000184831	ENST00000379226;ENST00000379220	T;T	0.16897	2.31;2.31	5.01	5.01	0.66863	.	0.289412	0.39909	N	0.001226	T	0.21186	0.0510	L	0.56769	1.78	0.30012	N	0.815091	P	0.46064	0.872	B	0.42916	0.402	T	0.14952	-1.0454	10	0.72032	D	0.01	-0.5357	12.5025	0.55964	0.0:0.0:1.0:0.0	.	18	Q9BUR5	APOO_HUMAN	N	18	ENSP00000368528:T18N;ENSP00000368522:T18N	ENSP00000368522:T18N	T	-	2	0	APOO	23808947	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	4.881000	0.63114	2.444000	0.82710	0.600000	0.82982	ACC		0.448	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		5	28	1	0	1.23904e-05	1	1.34019e-05	5	28					T	23899026	G	T	23899026	3	4	511	1	0	0	0	0	1	0	0	0	813	1261	44	4	571	4	APOO	23	23899026	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	6148911	23899026	131371534	36	40585											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	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						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	119	0	0	0	1	0	6	119					G	37028425	A	G	37028425	3	3	511	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08	13129399	37028425	118242135	37	40586											
MID1IP1	58526	broad.mit.edu	37	chrX	38664286	38664286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccgtgaacaacatggaCcagacggtgatggtgcccag	15	11	0	3	rs372188024		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:38664286C>G	ENST00000336949.6	+	2	1032	c.87C>G	c.(85-87)gaC>gaG	p.D29E	MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E|MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACAACATGGACCAGACGGTGA	0.612																																						ENST00000336949.6																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(85-87)gaC>gaG		MID1 interacting protein 1							106	70	82					X																	38664286		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664286C>G		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.87C>G	X.37:g.38664286C>G	ENSP00000338706:p.Asp29Glu					MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E	p.D29E	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	1032	+			29					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.87C>G	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170001	0.78452	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.84	4.84	0.62591	.	0.113796	0.56097	D	0.000022	T	0.61198	0.2328	L	0.33753	1.03	0.58432	D	0.999997	D	0.67145	0.996	D	0.63283	0.913	T	0.62191	-0.6906	9	0.51188	T	0.08	0.8389	10.5078	0.44845	0.0:0.908:0.0:0.092	.	29	Q9NPA3	M1IP1_HUMAN	E	29	.	ENSP00000338706:D29E	D	+	3	2	MID1IP1	38549230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.570000	0.53834	2.243000	0.73865	0.529000	0.55759	GAC		0.612	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			18	37	0	0	0	1	0	18	37					G	38664286	C	G	38664286	3	3	511	1	0	0	0	0	1	0	0	0	9577	506	18	4	89	4	MID1IP1	23	38664286	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	1635861	38664286	116606274	38	40587											
ATP7A	538	broad.mit.edu	37	chrX	77245264	77245264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaagaaactgtgataaaCattgatggcatgacttgtaa	8	6	0	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:77245264C>T	ENST00000341514.6	+	4	1301	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.N382N	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	382	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				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)	CTGTGATAAACATTGATGGCA	0.423																																						ENST00000341514.6																			0				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						c.(1144-1146)aaC>aaT		ATPase, Cu++ transporting, alpha polypeptide							170	160	163					X																	77245264		2203	4296	6499	SO:0001819	synonymous_variant	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77245264C>T	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.1146C>T	X.37:g.77245264C>T						ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.N382N	p.N382N	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	1301	+			382			HMA 4.		B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	ENST00000341514.6	37	c.1146C>T	CCDS35339.1																																																																																				0.423	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		110	59	0	0	0	1	0	110	59					T	77245264	C	T	77245264	2	4	511	1	0	0	0	0	0	0	0	1	1190	477	17	2		2	ATP7A	23	77245264	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	38580978	77245264	78025296	39	40588											
ARHGEF19	128272	broad.mit.edu	37	chr1	16528979	16528979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggaggaggaacacGtggccggggatgccctgcag	19	9	0	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:16528979G>A	ENST00000270747.3	-	13	2134	c.1998C>T	c.(1996-1998)caC>caT	p.H666H	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																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1996-1998)caC>caT		Rho guanine nucleotide exchange factor (GEF) 19							56	48	51					1																	16528979		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16528979G>A	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>T	1.37:g.16528979G>A						ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	p.H666H	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		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)	13	2134	-		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)	666			PH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.1998C>T	CCDS170.1																																																																																				0.642	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		13	27	0	0	0	1	0	13	27					A	16528979	G	A	16528979	2	1	512	1	0	0	0	0	0	0	0	1	902	1136	40	1		1	ARHGEF19	1	16528979	Silent	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		16528979	232721642	1	40589											
MUTYH	4595	broad.mit.edu	37	chr1	45796886	45796886	+	Frame_Shift_Del	DEL	G	G	-													ggtggaaacagctgcggtgtGaaattcctcctgcgtcagcc							TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:45796886delG	ENST00000372098.3	-	14	1568	c.1435delC	c.(1435-1437)cacfs	p.H479fs	MUTYH_ENST00000448481.1_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.H163fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.H482fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.H455fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.H469fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.H468fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	479	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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)					GCTGCGGTGTGAAATTCCTCC	0.488			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1444-1446)acfs	Base excision repair (BER), DNA glycosylases	mutY homolog							103	104	104					1																	45796886		2203	4300	6503	SO:0001589	frameshift_variant	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45796886delG	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.1435delC	1.37:g.45796886delG	ENSP00000361170:p.His479fs					MUTYH_ENST00000372104.1_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.H455fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.H479fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.H163fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.H469fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.H465fs	p.H482fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			14	1659	-	Acute lymphoblastic leukemia(166;0.155)		479			Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	37	c.1444delC	CCDS520.1																																																																																				0.488	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		28	43						28	43	---	---	---	---	-	45796886	G	-	45796886	7	5	512	1	0	1	0	1	0	0	0	0	9993	1290	45	0	217	0	MUTYH	1	45796886	Frame_Shift_Del	DEL	G	TCGA-WY-A85A-01A-21D-A36O-08	29267907	45796886	203453735	2	40590											
STIL	6491	broad.mit.edu	37	chr1	47748073	47748073	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagaaaaatcttcatcttCaacaccagagtcgtgatcat	7	9	5	3			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:47748073C>T	ENST00000360380.3	-	12	1555	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	STIL_ENST00000396221.2_Missense_Mutation_p.E398K|STIL_ENST00000243182.6_Missense_Mutation_p.E398K|STIL_ENST00000337817.5_Missense_Mutation_p.E398K|STIL_ENST00000371877.3_Missense_Mutation_p.E398K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	398					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATCTTCAACACCAGAG	0.408																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1192-1194)Gaa>Aaa		SCL/TAL1 interrupting locus							138	141	140					1																	47748073		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47748073C>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1192G>A	1.37:g.47748073C>T	ENSP00000353544:p.Glu398Lys					STIL_ENST00000337817.5_Missense_Mutation_p.E398K|STIL_ENST00000243182.6_Missense_Mutation_p.E398K|STIL_ENST00000371877.3_Missense_Mutation_p.E398K|STIL_ENST00000396221.2_Missense_Mutation_p.E398K	p.E398K			Q15468	STIL_HUMAN			12	1555	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	398					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1192G>A	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008285	0.93346	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.76838	2.35	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	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.80362	-0.1414	10	0.72032	D	0.01	-18.8321	19.286	0.94069	0.0:1.0:0.0:0.0	.	398;351;398;398;398	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	398;398;398;398;398;351	ENSP00000353544:E398K;ENSP00000337367:E398K;ENSP00000360944:E398K;ENSP00000379523:E398K;ENSP00000243182:E398K;ENSP00000411664:E351K	ENSP00000243182:E398K	E	-	1	0	STIL	47520660	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.938000	0.70170	2.538000	0.85594	0.561000	0.74099	GAA		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		21	73	0	0	0	1	0	21	73					T	47748073	C	T	47748073	3	4	512	1	0	0	0	0	1	0	0	0	15281	835	29	2	2702	2	STIL	1	47748073	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	1951187	47748073	201502548	3	40591											
COL11A1	1301	broad.mit.edu	37	chr1	103548438	103548441	+	Frame_Shift_Del	DEL	TTCT	TTCT	-													cagtatctgagcctttagaaTtctttctgtttgtgcaaaat					rs200396868		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:103548438_103548441delTTCT	ENST00000370096.3	-	2	506_509	c.194_197delAGAA	c.(193-198)aagaatfs	p.KN65fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.KN65fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65					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)		GCCTTTAGAATTCTTTCTGTTTGT	0.358																																						ENST00000358392.2																			0				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						c.(193-198)atfs		collagen, type XI, alpha 1																																				SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103548438_103548441delTTCT	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.194_197delAGAA	1.37:g.103548442_103548445delTTCT	ENSP00000359114:p.Lys65fs					COL11A1_ENST00000353414.4_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.KN65fs	p.KN65fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	2	511_514	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	65			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	ENST00000370096.3	37	c.194_197delAGAA	CCDS778.1																																																																																				0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		37	71						37	71	---	---	---	---	-	103548441	TTCT	-	103548438	7	5	512	1	0	1	0	1	0	0	0	0	3667	1493	52	0	5644	0	COL11A1	1	103548438	Frame_Shift_Del	DEL	TTCT	TCGA-WY-A85A-01A-21D-A36O-08	55800365	103548438	145702183	4	40592											
ABL2	27	broad.mit.edu	37	chr1	179078464	179078464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagccccccttcctatcCctggtgaagcatgtctcttt	7	14	1	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:179078464C>T	ENST00000502732.1	-	12	2141	c.1938G>A	c.(1936-1938)agG>agA	p.R646R	ABL2_ENST00000408940.3_Silent_p.R610R|ABL2_ENST00000367623.4_Silent_p.R625R|ABL2_ENST00000504405.1_Silent_p.R610R|ABL2_ENST00000511413.1_Silent_p.R646R|ABL2_ENST00000507173.1_Silent_p.R625R|ABL2_ENST00000344730.3_Silent_p.R631R|ABL2_ENST00000512653.1_Silent_p.R631R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	646					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|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)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTCCTATCCCTGGTGAAGC	0.547			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1936-1938)agG>agA		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						126	134	131					1																	179078464		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078464C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1938G>A	1.37:g.179078464C>T						ABL2_ENST00000511413.1_Silent_p.R646R|ABL2_ENST00000507173.1_Silent_p.R625R|ABL2_ENST00000408940.3_Silent_p.R610R|ABL2_ENST00000367623.4_Silent_p.R625R|ABL2_ENST00000512653.1_Silent_p.R631R|ABL2_ENST00000504405.1_Silent_p.R610R|ABL2_ENST00000344730.3_Silent_p.R631R	p.R646R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	2141	-			646					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.1938G>A	CCDS30947.1																																																																																				0.547	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		9	90	0	0	0	1	0	9	90					T	179078464	C	T	179078464	2	4	512	1	0	0	0	0	0	0	0	1	93	622	22	2		2	ABL2	1	179078464	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	75530026	179078464	70172157	5	40593											
IRF6	3664	broad.mit.edu	37	chr1	209969868	209969868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtcatccaccccttcCtggtacttccctgtctctac	6	17	3	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:209969868C>A	ENST00000367021.3	-	4	376	c.204G>T	c.(202-204)caG>caT	p.Q68H	IRF6_ENST00000542854.1_De_novo_Start_OutOfFrame	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	68					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCACCCCTTCCTGGTACTTCC	0.522										HNSCC(57;0.16)																												ENST00000542854.1																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28								interferon regulatory factor 6							87	64	72					1																	209969868		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969868C>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"Van der Woude syndrome"	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.204G>T	1.37:g.209969868C>A	ENSP00000355988:p.Gln68His	HNSCC(57;0.16)				IRF6_ENST00000367021.3_Missense_Mutation_p.Q68H		NM_001206696.1	NP_001193625.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	0	203	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Translation_Start_Site	SNP	ENST00000367021.3	37		CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060770	0.55432	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97831	-4.56;-4.56	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	L	0.51853	1.615	0.80722	D	1	P	0.36837	0.571	B	0.35114	0.196	D	0.94092	0.7354	9	.	.	.	.	12.9623	0.58466	0.0:0.9267:0.0:0.0733	.	68	O14896	IRF6_HUMAN	H	68	ENSP00000355988:Q68H;ENSP00000403855:Q68H	.	Q	-	3	2	IRF6	208036491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.947000	0.49058	2.652000	0.90054	0.655000	0.94253	CAG		0.522	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		3	36	1	0	6.4e-05	1	6.74595e-05	3	36					A	209969868	C	A	209969868	3	1	512	1	0	0	0	0	1	0	0	0	7834	680	24	4	1223	4	IRF6	1	209969868	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	30891404	209969868	39280753	6	40594											
EML4	27436	broad.mit.edu	37	chr2	42513476	42513476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagattattggacttgGcacttttgagcgtggagtag	13	6	0	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:42513476G>A	ENST00000318522.5	+	10	1341	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	EML4_ENST00000401738.3_Missense_Mutation_p.G371D|EML4_ENST00000402711.2_Missense_Mutation_p.G302D	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	360					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATTGGACTTGGCACTTTTGAG	0.428			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1078-1080)gGc>gAc		echinoderm microtubule associated protein like 4							183	160	168					2																	42513476		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42513476G>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1079G>A	2.37:g.42513476G>A	ENSP00000320663:p.Gly360Asp					EML4_ENST00000401738.3_Missense_Mutation_p.G371D|EML4_ENST00000402711.2_Missense_Mutation_p.G302D	p.G360D	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			10	1341	+			360					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1079G>A	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095355	0.94197	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.59502	0.26;0.26;0.26	5.09	5.09	0.68999	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	L	0.58302	1.8	0.80722	D	1	P;P;D	0.89917	0.489;0.952;1.0	B;P;D	0.71184	0.282;0.786;0.972	T	0.70945	-0.4734	10	0.38643	T	0.18	-15.3614	18.8556	0.92251	0.0:0.0:1.0:0.0	.	302;371;360	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	D	360;302;371	ENSP00000320663:G360D;ENSP00000385059:G302D;ENSP00000384939:G371D	ENSP00000320663:G360D	G	+	2	0	EML4	42366980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.532000	0.73825	2.519000	0.84933	0.650000	0.86243	GGC		0.428	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		4	114	0	0	0	1	0	4	114					A	42513476	G	A	42513476	3	1	512	1	0	0	0	0	1	0	0	0	5099	1203	42	2	1117	2	EML4	2	42513476	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		42513476	200685897	7	40595											
ZEB2	9839	broad.mit.edu	37	chr2	145187587	145187588	+	Frame_Shift_Del	DEL	TT	TT	-													tgtccactacattgtcatagTtcaccactgcagaagaagca							TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:145187587_145187588delTT	ENST00000558170.2	-	3	1263_1264	c.79_80delAA	c.(79-81)aacfs	p.N27fs	ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N27fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	27					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)		ATTGTCATAGTTCACCACTGCA	0.411																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				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						c.(79-81)cfs		zinc finger E-box binding homeobox 2																																				SO:0001589	frameshift_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145187587_145187588delTT	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.79_80delAA	2.37:g.145187587_145187588delTT	ENSP00000454157:p.Asn27fs					ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N27fs	p.N27fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	3	1263_1264	-			27					A0JP09|B7Z2P2|F5H814|Q9UED1	Frame_Shift_Del	DEL	ENST00000558170.2	37	c.79_80delAA	CCDS2186.1																																																																																				0.411	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		20	38						20	38	---	---	---	---	-	145187588	TT	-	145187587	7	5	512	1	0	1	0	1	0	0	0	0	17621	1725	60	0	3596	0	ZEB2	2	145187587	Frame_Shift_Del	DEL	TT	TCGA-WY-A85A-01A-21D-A36O-08	102674111	145187587	98011786	8	40596											
TTN	7273	broad.mit.edu	37	chr2	179458010	179458010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatccttctagaagatcaGgaaccctaaatttagtgtat	7	8	2	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:179458010G>A	ENST00000591111.1	-	249	54226	c.54002C>T	c.(54001-54003)cCt>cTt	p.P18001L	TTN_ENST00000460472.2_Missense_Mutation_p.P10577L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10769L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P19642L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17074L|TTN_ENST00000359218.5_Missense_Mutation_p.P10702L			Q8WZ42	TITIN_HUMAN	titin	18001	Fibronectin type-III 30. {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)			TAGAAGATCAGGAACCCTAAA	0.403																																						ENST00000589042.1																			0				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						c.(58924-58926)cCt>cTt		titin							158	157	158					2																	179458010		1837	4084	5921	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458010G>A	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.54002C>T	2.37:g.179458010G>A	ENSP00000465570:p.Pro18001Leu					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18001L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10702L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10577L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10769L	p.P19642L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		299	59149	-			18001			Fibronectin type-III 42.		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	ENST00000591111.1	37	c.58925C>T		.	.	.	.	.	.	.	.	.	.	G	12.72	2.022494	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43100	0.1232	N	0.17248	0.465	0.49389	D	0.999782	P;P;P;P	0.38617	0.64;0.64;0.64;0.64	B;B;B;B	0.36567	0.228;0.228;0.228;0.228	T	0.46176	-0.9210	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	10577;10702;10769;18001	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	17074;10577;10769;10702;10575	ENSP00000343764:P17074L;ENSP00000434586:P10577L;ENSP00000340554:P10769L;ENSP00000352154:P10702L	ENSP00000340554:P10769L	P	-	2	0	TTN	179166256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.696000	0.68287	2.937000	0.99478	0.650000	0.86243	CCT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	115	0	0	0	1	0	4	115					A	179458010	G	A	179458010	3	1	512	1	0	0	0	0	1	0	0	0	16732	1000	35	2	49310	2	TTN	2	179458010	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	34270423	179458010	63741363	9	40597											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	39	0	0	0	1	0	20	39					T	209113112	C	T	209113112	3	4	512	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	29655102	209113112	34086261	10	40598											
UGT1A3	54659	broad.mit.edu	37	chr2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaactgtgccaacAggaagccactatctcaggtc	11	12	2	0	rs201645683	byFrequency	TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	284					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTGTGCCAACAGGAAGCCACT	0.438													A|||	2	0.000399361	0.0	0.0	5008	,	,		20202	0.002		0.0	False		,,,				2504	0.0					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(850-852)Agg>Ggg									82	87	86					2																	234638622		2202	4300	6502	SO:0001583	missense	0							g.chr2:234638622A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.850A>G	2.37:g.234638622A>G	ENSP00000418532:p.Arg284Gly					UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.R284G	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	869	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.850A>G	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	5.773	0.327051	0.10900	.	.	ENSG00000243135	ENST00000482026	T	0.60171	0.21	4.0	1.33	0.21861	.	.	.	.	.	T	0.35128	0.0921	N	0.12422	0.21	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.20306	-1.0279	9	0.41790	T	0.15	.	6.4869	0.22093	0.7587:0.1543:0.087:0.0	.	284;284	Q5DT01;P35503	.;UD13_HUMAN	G	284	ENSP00000418532:R284G	ENSP00000418532:R284G	R	+	1	2	UGT1A3	234303361	0.003000	0.15002	0.975000	0.42487	0.949000	0.60115	2.046000	0.41260	0.378000	0.24764	0.373000	0.22412	AGG		0.438	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		10	138	0	0	0	1	0	10	138					G	234638622	A	G	234638622	3	3	512	1	0	0	0	0	1	0	0	0	16943	179	7	3	852	3	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-WY-A85A-01A-21D-A36O-08	25525510	234638622	8560751	11	40599											
NR2C2	7182	broad.mit.edu	37	chr3	15062400	15062400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccgctgtcagttttgcCggctgaaaaaatgcttagag	12	8	1	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr3:15062400C>T	ENST00000425241.1	+	5	879	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	NR2C2_ENST00000393102.3_Missense_Mutation_p.R173W|NR2C2_ENST00000406272.2_Missense_Mutation_p.R173W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R192W			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	173					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						TCAGTTTTGCCGGCTGAAAAA	0.413																																						ENST00000425241.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(517-519)Cgg>Tgg		nuclear receptor subfamily 2, group C, member 2							93	89	91					3																	15062400		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15062400C>T	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.517C>T	3.37:g.15062400C>T	ENSP00000388387:p.Arg173Trp					NR2C2_ENST00000406272.2_Missense_Mutation_p.R173W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R173W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R192W	p.R173W			P49116	NR2C2_HUMAN			5	879	+			173					A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	C	24.0	4.487455	0.84854	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04	5.78	4.8	0.61643	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.99906	4.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97105	0.9800	10	0.87932	D	0	.	16.3133	0.82905	0.1735:0.8265:0.0:0.0	.	173;192	P49116;F2YGU2	NR2C2_HUMAN;.	W	173;192;173;192;173	ENSP00000388387:R173W;ENSP00000320447:R192W;ENSP00000376814:R173W;ENSP00000401807:R192W;ENSP00000384463:R173W	ENSP00000320447:R192W	R	+	1	2	NR2C2	15037404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.165000	0.31822	2.894000	0.99253	0.591000	0.81541	CGG		0.413	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		3	50	0	0	0	1	0	3	50					T	15062400	C	T	15062400	3	4	512	1	0	0	0	0	1	0	0	0	10623	643	23	1	592	1	NR2C2	3	15062400	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		15062400	182960030	12	40600											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-													agcaccaccaccaccacgagCaccaccaccaccaccaccac					rs3840989		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000382730.2_In_Frame_Del_p.P86del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				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)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	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.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---	-	1038449	CAC	-	1038447	7	5	512	1	0	1	0	1	0	0	0	0	10442	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-WY-A85A-01A-21D-A36O-08		1038447	179876813	13	40601											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799049	140799049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaccagggctcgcccgcGctcagcgccaatgtgagcct	13	17	1	1			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:140799049G>A	ENST00000398594.2	+	1	1623	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	541	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)			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)			GCTCGCCCGCGCTCAGCGCCA	0.721																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1621-1623)gcG>gcA									26	32	30					5																	140799049		2057	4178	6235	SO:0001819	synonymous_variant	0							g.chr5:140799049G>A	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.1623G>A	5.37:g.140799049G>A						PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A541A	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1623	+								Q9UN63	Silent	SNP	ENST00000398594.2	37	c.1623G>A	CCDS47293.1																																																																																				0.721	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		7	49	0	0	0	1	0	7	49					A	140799049	G	A	140799049	2	1	512	1	0	0	0	0	0	0	0	1	11568	1074	38	1		1	PCDHGB7	5	140799049	Silent	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	139760602	140799049	40116211	14	40602											
CHAT	1103	broad.mit.edu	37	chr10	50863161	50863161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccatcgaagactggtgcCcacctacgagagcgcgtcca	11	15	0	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr10:50863161C>T	ENST00000337653.2	+	12	1808	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	CHAT_ENST00000395559.2_Missense_Mutation_p.P434L|CHAT_ENST00000351556.3_Missense_Mutation_p.P434L|CHAT_ENST00000339797.1_Missense_Mutation_p.P434L|CHAT_ENST00000395562.2_Missense_Mutation_p.P470L|CHAT_ENST00000455728.2_Missense_Mutation_p.P434L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	552					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGACTGGTGCCCACCTACGAG	0.532																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1408-1410)cCc>cTc		choline O-acetyltransferase	Choline(DB00122)						58	59	59					10																	50863161		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863161C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1655C>T	10.37:g.50863161C>T	ENSP00000337103:p.Pro552Leu					CHAT_ENST00000337653.2_Missense_Mutation_p.P552L|CHAT_ENST00000455728.2_Missense_Mutation_p.P434L|CHAT_ENST00000395559.2_Missense_Mutation_p.P434L|CHAT_ENST00000339797.1_Missense_Mutation_p.P434L|CHAT_ENST00000351556.3_Missense_Mutation_p.P434L	p.P470L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	1878	+		all_neural(218;0.107)	552					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1409C>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224474	0.95139	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.36	5.36	0.76844	.	0.053759	0.85682	D	0.000000	D	0.91188	0.7224	L	0.31157	0.91	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.77004	0.753;0.989	D	0.90453	0.4440	10	0.36615	T	0.2	-22.1384	19.0718	0.93140	0.0:1.0:0.0:0.0	.	434;552	F8W8I2;P28329	.;CLAT_HUMAN	L	434;434;434;552;470;434	ENSP00000343486:P434L;ENSP00000345878:P434L;ENSP00000378926:P434L;ENSP00000337103:P552L;ENSP00000378929:P470L;ENSP00000390521:P434L	ENSP00000337103:P552L	P	+	2	0	CHAT	50533167	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.514000	0.84764	0.591000	0.81541	CCC		0.532	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		5	65	0	0	0	1	0	5	65					T	50863161	C	T	50863161	3	4	512	1	0	0	0	0	1	0	0	0	3313	623	22	2	1745	2	CHAT	10	50863161	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		50863161	84671586	15	40603											
OR52L1	338751	broad.mit.edu	37	chr11	6007178	6007178	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgttcagatcaatccTtttgtgtaaacactctgagc	7	8	3	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:6007178T>C	ENST00000332249.4	-	1	1037	c.983A>G	c.(982-984)aAg>aGg	p.K328R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	328						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)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCAATCCTTTTGTGTAAA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(982-984)aAg>aGg		olfactory receptor, family 52, subfamily L, member 1							40	39	40					11																	6007178		1949	4145	6094	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007178T>C	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.983A>G	11.37:g.6007178T>C	ENSP00000330338:p.Lys328Arg						p.K328R	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1037	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	328					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.983A>G	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358641	0.41801	.	.	ENSG00000183313	ENST00000332249	T	0.00007	9.66	3.57	1.27	0.21489	.	2.516640	0.02262	U	0.067635	T	0.00144	0.0004	N	0.16130	0.375	0.09310	N	1	D	0.63880	0.993	D	0.70935	0.971	T	0.53865	-0.8378	10	0.41790	T	0.15	.	6.2269	0.20714	0.0:0.329:0.0:0.671	.	328	Q8NGH7	O52L1_HUMAN	R	328	ENSP00000330338:K328R	ENSP00000330338:K328R	K	-	2	0	OR52L1	5963754	0.001000	0.12720	0.008000	0.14137	0.081000	0.17604	0.481000	0.22260	0.557000	0.29117	0.260000	0.18958	AAG		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		8	11	0	0	0	1	0	8	11					C	6007178	T	C	6007178	3	2	512	1	0	0	0	0	1	0	0	0	11125	1609	56	3	10	3	OR52L1	11	6007178	Missense_Mutation	SNP	T	TCGA-WY-A85A-01A-21D-A36O-08		6007178	128999338	16	40604											
TRPC6	7225	broad.mit.edu	37	chr11	101375499	101375499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggagaactgtctgccgCcggtgagccagtctgttgtc	13	12	3	2	rs372852515		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:101375499C>T	ENST00000344327.3	-	2	625	c.201G>A	c.(199-201)cgG>cgA	p.R67R	TRPC6_ENST00000532133.1_Silent_p.R67R|TRPC6_ENST00000348423.4_Silent_p.R67R|TRPC6_ENST00000360497.4_Silent_p.R67R|TRPC6_ENST00000526713.1_5'UTR	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	67					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGTCTGCCGCCGGTGAGCCA	0.463																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(199-201)cgG>cgA		transient receptor potential cation channel, subfamily C, member 6		C		1,4405	2.1+/-5.4	0,1,2202	66	73	71		201	4.6	1	11		71	0,8598		0,0,4299	no	coding-synonymous	TRPC6	NM_004621.5		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		67/932	101375499	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375499C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.201G>A	11.37:g.101375499C>T						TRPC6_ENST00000348423.4_Silent_p.R67R|TRPC6_ENST00000360497.4_Silent_p.R67R|TRPC6_ENST00000532133.1_Silent_p.R67R|TRPC6_ENST00000526713.1_5'UTR	p.R67R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	625	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	67					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	c.201G>A	CCDS8311.1																																																																																				0.463	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		27	36	0	0	0	1	0	27	36					T	101375499	C	T	101375499	2	4	512	1	0	0	0	0	0	0	0	1	16580	726	26	2		2	TRPC6	11	101375499	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	95368321	101375499	33631017	17	40605											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	4	0	0	0	1	0	11	4					A	7577121	G	A	7577121	3	1	512	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		7577121	73618089	18	40606											
ATAD5	79915	broad.mit.edu	37	chr17	29192788	29192788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgccagtgaacttatagGaaatgagttagctataaaaa	9	5	0	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:29192788G>A	ENST00000321990.4	+	11	3581	c.3203G>A	c.(3202-3204)gGa>gAa	p.G1068E	RP13-753N3.1_ENST00000584157.1_RNA|CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1068					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)				GAACTTATAGGAAATGAGTTA	0.299																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3202-3204)gGa>gAa		ATPase family, AAA domain containing 5							72	74	73					17																	29192788		2203	4292	6495	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29192788G>A		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.3203G>A	17.37:g.29192788G>A	ENSP00000313171:p.Gly1068Glu						p.G1068E	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			11	3581	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1068					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3203G>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935982	0.34189	.	.	ENSG00000176208	ENST00000321990	T	0.28895	1.59	5.18	4.0	0.46444	.	0.110213	0.64402	D	0.000009	T	0.65123	0.2661	H	0.95780	3.72	0.48135	D	0.999598	B;D	0.64830	0.365;0.994	B;D	0.66847	0.3;0.947	T	0.76691	-0.2866	10	0.66056	D	0.02	.	14.6552	0.68828	0.082:0.0:0.918:0.0	.	1068;1068	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	E	1068	ENSP00000313171:G1068E	ENSP00000313171:G1068E	G	+	2	0	ATAD5	26216914	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.779000	0.68948	2.432000	0.82394	0.650000	0.86243	GGA		0.299	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		21	39	0	0	0	1	0	21	39					A	29192788	G	A	29192788	3	1	512	1	0	0	0	0	1	0	0	0	1076	1174	41	2	3245	2	ATAD5	17	29192788	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	21615667	29192788	52002422	19	40607											
SMARCA4	6597	broad.mit.edu	37	chr19	11132515	11132515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgcctgctgctgacgGgcacaccgctgcagaacaag	12	17	0	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr19:11132515G>T	ENST00000429416.3	+	20	3012	c.2731G>T	c.(2731-2733)Ggc>Tgc	p.G911C	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G911C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G911C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G911C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G911C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	911	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)				GCTGCTGACGGGCACACCGCT	0.592			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(2731-2733)Ggc>Tgc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							91	69	76					19																	11132515		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132515G>T	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.2731G>T	19.37:g.11132515G>T	ENSP00000395654:p.Gly911Cys					SMARCA4_ENST00000444061.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G911C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G911C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G911C	p.G911C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	3015	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	911			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2731G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068263	0.55539	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	H	0.99820	4.81	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.98802	1.0740	10	0.87932	D	0	-36.4224	16.1519	0.81629	0.0:0.0:1.0:0.0	.	911;911;911;911;911;131;911;911	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	C	911;911;975;911;911;911;911;911	ENSP00000395654:G911C;ENSP00000350720:G911C;ENSP00000343896:G911C;ENSP00000445036:G911C;ENSP00000392837:G911C;ENSP00000397783:G911C;ENSP00000414727:G911C	ENSP00000343896:G911C	G	+	1	0	SMARCA4	10993515	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	9.657000	0.98554	2.348000	0.79779	0.655000	0.94253	GGC		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		10	16	1	0	2.17888e-05	1	2.36045e-05	10	16					T	11132515	G	T	11132515	3	4	512	1	0	0	0	0	1	0	0	0	14770	1232	43	4	2801	4	SMARCA4	19	11132515	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		11132515	47996468	20	40608											
RALGAPA2	57186	broad.mit.edu	37	chr20	20484148	20484148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgggtggagagatcCacctgacaaaggtcacaaag	12	10	1	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr20:20484148C>T	ENST00000202677.7	-	35	5062	c.5055G>A	c.(5053-5055)gtG>gtA	p.V1685V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1685	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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						TGGAGAGATCCACCTGACAAA	0.463																																						ENST00000202677.6																			0				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						c.(5053-5055)gtG>gtA		Ral GTPase activating protein, alpha subunit 2 (catalytic)							32	33	33					20																	20484148		1944	4154	6098	SO:0001819	synonymous_variant	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20484148C>T	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.5055G>A	20.37:g.20484148C>T							p.V1685V	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			35	5197	-			1685			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Silent	SNP	ENST00000202677.7	37	c.5055G>A	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609185	0.28623	.	.	ENSG00000188559	ENST00000430436;ENST00000427175	.	.	.	5.75	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6537	0.28363	0.3636:0.4161:0.2203:0.0	.	.	.	.	X	1502;96	.	.	W	-	2	0	RALGAPA2	20432148	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.283000	0.43470	2.711000	0.92665	0.655000	0.94253	TGG		0.463	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		7	14	0	0	0	1	0	7	14					T	20484148	C	T	20484148	2	4	512	1	0	0	0	0	0	0	0	1	13014	581	21	2		2	RALGAPA2	20	20484148	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		20484148	42541372	21	40609											
KCNJ15	3772	broad.mit.edu	37	chr21	39672106	39672106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggaaatctactgggGttttgagtttgtgcctgtgg	14	7	1	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr21:39672106G>A	ENST00000328656.4	+	4	1226	c.923G>A	c.(922-924)gGt>gAt	p.G308D	KCNJ15_ENST00000398932.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.G308D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398930.1_Missense_Mutation_p.G308D	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	308					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	ATCTACTGGGGTTTTGAGTTT	0.458																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(922-924)gGt>gAt		potassium inwardly-rectifying channel, subfamily J, member 15							65	65	65					21																	39672106		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39672106G>A	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.923G>A	21.37:g.39672106G>A	ENSP00000331698:p.Gly308Asp					KCNJ15_ENST00000398938.2_Missense_Mutation_p.G308D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000328656.3_Missense_Mutation_p.G308D	p.G308D			Q99712	IRK15_HUMAN			4	1277	+			308					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.923G>A	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792758	0.90453	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000398930;ENST00000398934	D;D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61;-4.61	5.72	5.72	0.89469	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99187	1.0869	9	.	.	.	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	308	Q99712	IRK15_HUMAN	D	308	ENSP00000331698:G308D;ENSP00000381911:G308D;ENSP00000381905:G308D;ENSP00000381904:G308D;ENSP00000381907:G308D	.	G	+	2	0	KCNJ15	38593976	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	GGT		0.458	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		27	36	0	0	0	1	0	27	36					A	39672106	G	A	39672106	3	1	512	1	0	0	0	0	1	0	0	0	8049	1261	44	2	925	2	KCNJ15	21	39672106	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		39672106	8457789	22	40610											
ATRX	546	broad.mit.edu	37	chrX	76855051	76855051	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccttttttcttctttcTaaaaacaaacaaacaaacaa	0	10	3	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chrX:76855051T>G	ENST00000373344.5	-	25	6001		c.e25-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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						TTCTTCTTTCTaaaaacaaac	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e25-2		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						211	203	206					X																	76855051		2203	4294	6497	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855051T>G	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.5787-2A>C	X.37:g.76855051T>G						ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6001	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485145	0.63962	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1613	0.65448	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76741707	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	5.640000	0.67875	1.790000	0.52503	0.481000	0.45027	.		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	90	26	0	0	0	1	0	90	26					G	76855051	T	G	76855051	5	3	512	1	0	0	0	0	0	0	1	0	1208	1536	53	5	1737	5	ATRX	23	76855051	Splice_Site	SNP	T	TCGA-WY-A85A-01A-21D-A36O-08		76855051	78415509	23	40611											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907676	12907676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaattgaagccacttttgCcccttcgtgaggtgtttcct	9	10	0	3	rs543878723		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:12907676C>T	ENST00000317869.6	-	2	692	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	156						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCCACTTTTGCCCCTTCGTGA	0.507																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(466-468)gGc>gAc		heterogeneous nuclear ribonucleoprotein C-like 1							129	139	135					1																	12907676		2202	4298	6500	SO:0001583	missense	343069							g.chr1:12907676C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.467G>A	1.37:g.12907676C>T	ENSP00000365370:p.Gly156Asp						p.G156D	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	692	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.467G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.874110	0.33069	.	.	ENSG00000179172	ENST00000317869	T	0.11063	2.81	1.09	1.09	0.20402	.	0.187323	0.33732	U	0.004613	T	0.20700	0.0498	M	0.77820	2.39	0.34842	D	0.740779	D	0.63046	0.992	P	0.58520	0.84	T	0.37267	-0.9713	10	0.13470	T	0.59	.	8.1133	0.30928	0.0:1.0:0.0:0.0	.	156	O60812	HNRCL_HUMAN	D	156	ENSP00000365370:G156D	ENSP00000365370:G156D	G	-	2	0	HNRNPCL1	12830263	1.000000	0.71417	0.350000	0.25708	0.017000	0.09413	1.890000	0.39728	0.916000	0.36871	0.416000	0.27883	GGC		0.507	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		18	342	0	0	0	1	0	18	342					T	12907676	C	T	12907676	3	4	513	1	0	0	0	0	1	0	0	0	7263	739	26	2	416	2	HNRNPCL1	1	12907676	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		12907676	236342945	1	40612											
KCNK2	3776	broad.mit.edu	37	chr1	215368303	215368303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgtctccaggtggatcCgatattgaatatctggactt	10	7	2	1	rs149941939		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277					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)	CAGGTGGATCCGATATTGAAT	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14416	0.0		0.0	False		,,,				2504	0.0					ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(829-831)tcC>tcT		potassium channel, subfamily K, member 2	Dofetilide(DB00204)	C	,,	2,4404	4.2+/-10.8	0,2,2201	176	176	176		819,831,786	-9.6	0.5	1	dbSNP_134	176	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous,coding-synonymous	KCNK2	NM_001017424.2,NM_001017425.2,NM_014217.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	273/423,277/427,262/412	215368303	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215368303C>T	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.831C>T	1.37:g.215368303C>T						KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	p.S277S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	6	981	+			277					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.831C>T	CCDS41467.1																																																																																				0.373	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		19	139	0	0	0	1	0	19	139					T	215368303	C	T	215368303	2	4	513	1	0	0	0	0	0	0	0	1	8066	639	23	1		1	KCNK2	1	215368303	Silent	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08	202460627	215368303	33882318	2	40613											
RANBP2	5903	broad.mit.edu	37	chr2	109384409	109384409	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaattgctgtagctgtaTtagaagaaaccacaagagag	10	6	0	3			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:109384409T>A	ENST00000283195.6	+	20	7540	c.7414T>A	c.(7414-7416)Tta>Ata	p.L2472I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2472					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						TGTAGCTGTATTAGAAGAAAC	0.428																																						ENST00000283195.6																		RANBP2/ALK(34)	0				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						c.(7414-7416)Tta>Ata		RAN binding protein 2							75	82	80					2																	109384409		2185	4246	6431	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384409T>A	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.7414T>A	2.37:g.109384409T>A	ENSP00000283195:p.Leu2472Ile						p.L2472I	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7540	+			2472					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7414T>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.267094	0.23136	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.36699	1.24	5.61	1.8	0.24995	.	.	.	.	.	T	0.38453	0.1041	M	0.69823	2.125	0.24952	N	0.991786	P	0.48294	0.908	B	0.44224	0.444	T	0.19386	-1.0307	9	0.44086	T	0.13	-10.9072	8.4531	0.32882	0.0:0.3965:0.0:0.6035	.	2472	P49792	RBP2_HUMAN	I	1496;2472	ENSP00000283195:L2472I	ENSP00000283195:L2472I	L	+	1	2	RANBP2	108750841	0.593000	0.26840	0.282000	0.24776	0.135000	0.20990	1.117000	0.31234	0.443000	0.26582	-0.467000	0.05162	TTA		0.428	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	456	0	0	0	1	0	6	456					A	109384409	T	A	109384409	3	1	513	1	0	0	0	0	1	0	0	0	13028	1490	52	5	7492	5	RANBP2	2	109384409	Missense_Mutation	SNP	T	TCGA-WY-A85B-01A-11D-A36O-08		109384409	133814964	3	40614											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	54	0	0	0	1	0	32	54					C	209113113	G	C	209113113	3	2	513	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	99728704	209113113	34086260	4	40615											
BOC	91653	broad.mit.edu	37	chr3	112969621	112969621	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgggacggtaccagtGtgtggcccggatgcctgcgg	17	11	0	0			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:112969621G>T	ENST00000495514.1	+	4	1021	c.317G>T	c.(316-318)tGt>tTt	p.C106F	BOC_ENST00000355385.3_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F|BOC_ENST00000273395.4_Missense_Mutation_p.C106F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	106	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGGTACCAGTGTGTGGCCCGG	0.622																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(316-318)tGt>tTt		BOC cell adhesion associated, oncogene regulated							80	76	77					3																	112969621		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112969621G>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.317G>T	3.37:g.112969621G>T	ENSP00000418663:p.Cys106Phe					BOC_ENST00000273395.4_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000355385.3_Missense_Mutation_p.C106F	p.C106F			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		4	1021	+			106			Ig-like C2-type 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.317G>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.819142	0.90873	.	.	ENSG00000144857	ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	H	0.99712	4.72	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	0.93230	0.6616	9	.	.	.	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	106;106;106	Q9BWV1-3;Q9BWV1;Q96DN7	.;BOC_HUMAN;.	F	106	ENSP00000418663:C106F;ENSP00000420154:C106F;ENSP00000273395:C106F;ENSP00000347546:C106F;ENSP00000417337:C106F	.	C	+	2	0	BOC	114452311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.331000	0.96430	2.688000	0.91661	0.550000	0.68814	TGT		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		6	31	1	0	0.00116845	1	0.00128152	6	31					T	112969621	G	T	112969621	3	4	513	1	0	0	0	0	1	0	0	0	1481	1377	48	4	323	4	BOC	3	112969621	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		112969621	85052809	5	40616											
CD86	942	broad.mit.edu	37	chr3	121838286	121838287	+	Splice_Site	INS	-	-	A													tttcttctatttctccagagINSaaaaaatccatatacctgaa							TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:121838286_121838287insA	ENST00000330540.2	+	7	1011_1012	c.895_896insA	c.(895-897)gaa>gAaa	p.E299fs	CD86_ENST00000393627.2_Splice_Site_p.E293fs|CD86_ENST00000264468.5_Splice_Site_p.E86fs|CD86_ENST00000493101.1_Splice_Site_p.E187fs|CD86_ENST00000469710.1_Splice_Site_p.E217fs	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	299					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TTTCTCCAGAGAAAAAATCCAT	0.337																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.e7-1		CD86 molecule	Abatacept(DB01281)																																			SO:0001630	splice_region_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121838286_121838287insA		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1705	protein-coding gene	gene with protein product	"B-lymphocyte antigen B7-2"	601020	"CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.894-1->A	3.37:g.121838292_121838292dupA						CD86_ENST00000264468.5_Splice_Site_p.K86_splice|CD86_ENST00000493101.1_Splice_Site_p.K187_splice|CD86_ENST00000469710.1_Splice_Site_p.K217_splice|CD86_ENST00000393627.2_Splice_Site_p.K293_splice	p.K299_splice	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1011_1012	+			299					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Splice_Site	INS	ENST00000330540.2	37	c.893_splice	CCDS3009.1																																																																																				0.337	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	Frame_Shift_Ins	34	56						34	56	---	---	---	---	A	121838287	-	A	121838286	8	5	513	1	0	1	1	0	0	0	1	0	3043	956	33	0	921	0	CD86	3	121838286	Splice_Site	INS	-	TCGA-WY-A85B-01A-11D-A36O-08	8868665	121838286	76184144	6	40617											
MMRN1	22915	broad.mit.edu	37	chr4	90816388	90816388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcctccctcagaaacaaGtgcacctgctgagggtgtga	11	12	1	3			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr4:90816388G>T	ENST00000394980.1	+	2	585	c.266G>T	c.(265-267)aGt>aTt	p.S89I	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I			Q13201	MMRN1_HUMAN	multimerin 1	89					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAGAAACAAGTGCACCTGCT	0.493																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(265-267)aGt>aTt		multimerin 1							71	69	69					4																	90816388		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816388G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.266G>T	4.37:g.90816388G>T	ENSP00000378431:p.Ser89Ile					MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I|MMRN1_ENST00000394981.1_Intron	p.S89I			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	585	+		Hepatocellular(203;0.114)	89					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.266G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342073	0.41498	.	.	ENSG00000138722	ENST00000394980;ENST00000264790	T;T	0.68765	-0.35;-0.35	4.55	0.678	0.17969	.	0.244180	0.28889	N	0.013818	T	0.55417	0.1919	L	0.46157	1.445	0.09310	N	1	P	0.41041	0.736	B	0.41988	0.372	T	0.50591	-0.8810	10	0.62326	D	0.03	.	5.2051	0.15287	0.19:0.3237:0.4863:0.0	.	89	Q13201	MMRN1_HUMAN	I	89	ENSP00000378431:S89I;ENSP00000264790:S89I	ENSP00000264790:S89I	S	+	2	0	MMRN1	91035411	0.006000	0.16342	0.000000	0.03702	0.015000	0.08874	1.563000	0.36364	-0.029000	0.13827	0.467000	0.42956	AGT		0.493	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		4	55	1	0	0.00909568	1	0.00966416	4	55					T	90816388	G	T	90816388	3	4	513	1	0	0	0	0	1	0	0	0	9670	1029	36	4	268	4	MMRN1	4	90816388	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		90816388	100337888	7	40618											
CDO1	1036	broad.mit.edu	37	chr5	115142186	115142186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaggttccgtatggctgaTgttctctactcgatgtaagc	11	9	1	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr5:115142186T>C	ENST00000250535.4	-	4	989	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	145					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)	GTATGGCTGATGTTCTCTACT	0.413																																						ENST00000250535.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11						c.(433-435)Atc>Gtc		cysteine dioxygenase type 1	L-Cysteine(DB00151)|NADH(DB00157)						105	95	98					5																	115142186		2202	4300	6502	SO:0001583	missense	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115142186T>C		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.433A>G	5.37:g.115142186T>C	ENSP00000250535:p.Ile145Val					CDO1_ENST00000502631.1_5'UTR	p.I145V	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	4	989	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)	145					B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	ENST00000250535.4	37	c.433A>G	CCDS4121.1	.	.	.	.	.	.	.	.	.	.	T	9.348	1.064754	0.20067	.	.	ENSG00000129596	ENST00000250535	T	0.39787	1.06	5.56	1.31	0.21738	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.426429	0.27744	N	0.018036	T	0.17152	0.0412	N	0.05199	-0.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	10	0.25106	T	0.35	-25.773	5.0633	0.14568	0.0:0.2938:0.2656:0.4406	.	145	Q16878	CDO1_HUMAN	V	145	ENSP00000250535:I145V	ENSP00000250535:I145V	I	-	1	0	CDO1	115170085	0.987000	0.35691	0.190000	0.23270	0.866000	0.49608	1.348000	0.33987	-0.010000	0.14271	0.459000	0.35465	ATC		0.413	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801		14	32	0	0	0	1	0	14	32					C	115142186	T	C	115142186	3	2	513	1	0	0	0	0	1	0	0	0	3169	1464	51	3	177	3	CDO1	5	115142186	Missense_Mutation	SNP	T	TCGA-WY-A85B-01A-11D-A36O-08		115142186	65773074	8	40619											
C8orf34	116328	broad.mit.edu	37	chr8	69434080	69434080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgaggccccgtgtgattgGagaatggattggtagagaag	16	5	1	4			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr8:69434080G>A	ENST00000539993.1	+	6	1103	c.554G>A	c.(553-555)gGa>gAa	p.G185E	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E|C8orf34_ENST00000337103.4_Missense_Mutation_p.G160E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	185										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CGTGTGATTGGAGAATGGATT	0.403																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(478-480)gGa>gAa		chromosome 8 open reading frame 34							93	89	91					8																	69434080		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434080G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.554G>A	8.37:g.69434080G>A	ENSP00000438159:p.Gly185Glu					C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G185E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000349492.3_3'UTR	p.G160E			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	2071	+			185					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.479G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.815144	0.90790	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.57907	0.37;0.45;0.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.65975	2.015	0.50632	D	0.999886	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70223	-0.4931	9	.	.	.	-19.0044	19.6482	0.95790	0.0:0.0:1.0:0.0	.	185;185	Q49A92;Q49A92-3	CH034_HUMAN;.	E	271;185;185;160	ENSP00000427820:G271E;ENSP00000438159:G185E;ENSP00000337174:G160E	.	G	+	2	0	C8orf34	69596634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.365000	0.90108	2.696000	0.92011	0.655000	0.94253	GGA		0.403	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		15	31	0	0	0	1	0	15	31					A	69434080	G	A	69434080	3	1	513	1	0	0	0	0	1	0	0	0	2422	1174	41	2	497	2	C8orf34	8	69434080	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		69434080	76929942	9	40620											
OR51T1	401665	broad.mit.edu	37	chr11	4903765	4903765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctacctgaatggcactgaCgtattgtttattcttttctc	6	10	3	2	rs138268565	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:4903765C>T	ENST00000322049.1	+	1	636	c.636C>T	c.(634-636)gaC>gaT	p.D212D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.D239D			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212						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(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													c|||	2	0.000399361	0.0	0.0029	5008	,	,		22131	0.0		0.0	False		,,,				2504	0.0					ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(715-717)gaC>gaT		olfactory receptor, family 51, subfamily T, member 1		T		0,4402		0,0,2201	115	106	109		717	-1.6	0.7	11	dbSNP_134	109	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	OR51T1	NM_001004759.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		239/355	4903765	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903765C>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.636C>T	11.37:g.4903765C>T						MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000477339.1_Intron	p.D239D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	717	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	212					Q6IFH9	Silent	SNP	ENST00000322049.1	37	c.717C>T																																																																																					0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		8	73	0	0	0	1	0	8	73					T	4903765	C	T	4903765	2	4	513	1	0	0	0	0	0	0	0	1	11106	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		4903765	130102751	10	40621											
KCNA4	3739	broad.mit.edu	37	chr11	30033344	30033344	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctggatattcaaagaggagCcaaatctgctttttaaattc	7	7	3	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:30033344C>G	ENST00000328224.6	-	2	2115	c.882G>C	c.(880-882)tgG>tgC	p.W294C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	294					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)	CAAAGAGGAGCCAAATCTGCT	0.507																																						ENST00000328224.6																			0				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						c.(880-882)tgG>tgC		potassium voltage-gated channel, shaker-related subfamily, member 4							58	54	55					11																	30033344		1900	4119	6019	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033344C>G	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.882G>C	11.37:g.30033344C>G	ENSP00000328511:p.Trp294Cys						p.W294C	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2115	-			294						Missense_Mutation	SNP	ENST00000328224.6	37	c.882G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589986	0.66105	.	.	ENSG00000182255	ENST00000328224	T	0.66638	-0.22	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91515	0.5230	10	0.87932	D	0	.	18.6691	0.91504	0.0:1.0:0.0:0.0	.	294	P22459	KCNA4_HUMAN	C	294	ENSP00000328511:W294C	ENSP00000328511:W294C	W	-	3	0	KCNA4	29989920	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.412000	0.81896	0.655000	0.94253	TGG		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		4	51	0	0	0	1	0	4	51					G	30033344	C	G	30033344	3	3	513	1	0	0	0	0	1	0	0	0	8005	740	26	4	1083	4	KCNA4	11	30033344	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08	25129579	30033344	104973172	11	40622											
ACVRL1	94	broad.mit.edu	37	chr12	52312879	52312879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagacccccaccatccctAaccggctggctgcagacccg	9	19	0	2			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr12:52312879A>G	ENST00000388922.4	+	9	1640	c.1357A>G	c.(1357-1359)Aac>Gac	p.N453D	ACVRL1_ENST00000550683.1_Missense_Mutation_p.N467D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	453	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)	CACCATCCCTAACCGGCTGGC	0.587																																						ENST00000550683.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1399-1401)Aac>Gac		activin A receptor type II-like 1	Adenosine triphosphate(DB00171)						97	78	84					12																	52312879		2203	4300	6503	SO:0001583	missense	94				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312879A>G	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.1357A>G	12.37:g.52312879A>G	ENSP00000373574:p.Asn453Asp					ACVRL1_ENST00000388922.4_Missense_Mutation_p.N453D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	p.N467D	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	8	1500	+			453			Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1399A>G	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149662	0.78001	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	T;T;T	0.63417	-0.04;-0.04;-0.04	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44483	D	0.000459	T	0.61714	0.2369	N	0.08118	0	0.80722	D	1	B;D	0.89917	0.081;1.0	B;D	0.79108	0.228;0.992	T	0.70528	-0.4847	10	0.87932	D	0	.	13.9236	0.63948	1.0:0.0:0.0:0.0	.	279;453	E7EN07;P37023	.;ACVL1_HUMAN	D	453;453;467;279;279	ENSP00000373574:N453D;ENSP00000447884:N467D;ENSP00000392492:N279D	ENSP00000267008:N453D	N	+	1	0	ACVRL1	50599146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.196000	0.70406	0.459000	0.35465	AAC		0.587	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			3	41	0	0	0	1	0	3	41					G	52312879	A	G	52312879	3	3	513	1	0	0	0	0	1	0	0	0	225	362	13	3	1387	3	ACVRL1	12	52312879	Missense_Mutation	SNP	A	TCGA-WY-A85B-01A-11D-A36O-08		52312879	81539016	12	40623											
RYR3	6263	broad.mit.edu	37	chr15	33955132	33955132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgcagactcgattacccGaatccgtcaagctgcaggta	10	11	1	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:33955132G>A	ENST00000389232.4	+	35	5471	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1801	4 X approximate repeats.				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)		TCGATTACCCGAATCCGTCAA	0.512																																						ENST00000389232.4																			0				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						c.(5401-5403)Gaa>Aaa		ryanodine receptor 3							156	161	160					15																	33955132		2013	4182	6195	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955132G>A		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.5401G>A	15.37:g.33955132G>A	ENSP00000373884:p.Glu1801Lys					RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5471	+		all_lung(180;7.18e-09)	1801			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5401G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856704	0.91433	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73897	-0.44;-0.79	4.98	4.98	0.66077	.	0.063428	0.64402	D	0.000008	D	0.87099	0.6093	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.956	D	0.88468	0.3060	10	0.87932	D	0	.	18.8041	0.92029	0.0:0.0:1.0:0.0	.	1801;1801	Q15413-2;Q15413	.;RYR3_HUMAN	K	1801	ENSP00000373884:E1801K;ENSP00000399610:E1801K	ENSP00000354735:E1801K	E	+	1	0	RYR3	31742424	1.000000	0.71417	0.985000	0.45067	0.783000	0.44284	9.349000	0.97066	2.758000	0.94735	0.563000	0.77884	GAA		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	126	0	0	0	1	0	4	126					A	33955132	G	A	33955132	3	1	513	1	0	0	0	0	1	0	0	0	13770	1059	37	1	5539	1	RYR3	15	33955132	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		33955132	68576260	13	40624											
MPG	4350	broad.mit.edu	37	chr16	133194	133194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcatgttcatgaagccGgggaccctgtacgtgtacat	13	10	1	1	rs4986985	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr16:133194G>A	ENST00000219431.4	+	4	690	c.459G>A	c.(457-459)ccG>ccA	p.P153P	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Silent_p.P136P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	153					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCATGAAGCCGGGGACCCTGT	0.632								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(457-459)ccG>ccA	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							121	128	125					16																	133194		2203	4300	6503	SO:0001819	synonymous_variant	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133194G>A		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"alkyladenine DNA glycosylase"	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.459G>A	16.37:g.133194G>A						MPG_ENST00000397817.1_Silent_p.P136P	p.P153P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			4	690	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	153					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.459G>A	CCDS32346.1																																																																																				0.632	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			17	190	0	0	0	1	0	17	190					A	133194	G	A	133194	2	1	513	1	0	0	0	0	0	0	0	1	9724	1103	39	1		1	MPG	16	133194	Silent	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		133194	90221559	14	40625											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	3	0	0	0	1	0	20	3					A	7577121	G	A	7577121	3	1	513	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		7577121	73618089	15	40626											
RAI1	10743	broad.mit.edu	37	chr17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgggctgctgcagtgccccGaggtggccaaggctgaccgg	18	12	0	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2488-2490)Gag>Aag		retinoic acid induced 1							21	27	25					17																	17698750		2199	4295	6494	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698750G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2488G>A	17.37:g.17698750G>A	ENSP00000323074:p.Glu830Lys					RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2957	+			830					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2488G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433669	0.43224	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69926	-0.44;2.3;0.16	5.37	4.4	0.53042	.	0.313591	0.30639	N	0.009191	T	0.57431	0.2053	L	0.57536	1.79	0.36301	D	0.857034	P	0.40681	0.727	B	0.27262	0.078	T	0.68500	-0.5392	10	0.51188	T	0.08	.	14.1992	0.65690	0.0727:0.0:0.9273:0.0	.	830	Q7Z5J4	RAI1_HUMAN	K	830;830;830;830;830;782	ENSP00000323074:E830K;ENSP00000379120:E830K;ENSP00000261641:E830K	ENSP00000261641:E830K	E	+	1	0	RAI1	17639475	1.000000	0.71417	0.879000	0.34478	0.385000	0.30292	6.910000	0.75741	1.265000	0.44215	0.561000	0.74099	GAG		0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	11	0	0	0	1	0	7	11					A	17698750	G	A	17698750	3	1	513	1	0	0	0	0	1	0	0	0	13007	1059	37	1	2490	1	RAI1	17	17698750	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	10121629	17698750	63496460	16	40627											
TBCD	6904	broad.mit.edu	37	chr17	80885834	80885834	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgacacttctgctggctcGgagccagcctgagctgatcg	12	13	2	3			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:80885834G>T	ENST00000355528.4	+	30	2793	c.2663G>T	c.(2662-2664)cGg>cTg	p.R888L	TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	888					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCTGGCTCGGAGCCAGCCT	0.637																																						ENST00000355528.4																			0											c.(2662-2664)cGg>cTg		tubulin folding cofactor D							58	62	61					17																	80885834		2054	4210	6264	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80885834G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2663G>T	17.37:g.80885834G>T	ENSP00000347719:p.Arg888Leu					TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		30	2793	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	888					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2663G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	7.173	0.588107	0.13812	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.18016	2.24	5.17	-2.52	0.06346	Armadillo-like helical (1);Armadillo-type fold (1);	0.586050	0.18255	N	0.146813	T	0.17746	0.0426	M	0.73598	2.24	0.09310	N	1	P;B;P	0.37038	0.579;0.433;0.579	B;B;B	0.37144	0.178;0.062;0.242	T	0.11251	-1.0595	9	.	.	.	.	9.5381	0.39235	0.5389:0.0:0.4611:0.0	.	639;888;888	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	888;639	ENSP00000347719:R888L	.	R	+	2	0	TBCD	78479123	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.354000	0.07681	-0.474000	0.06862	-0.221000	0.12465	CGG		0.637	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		3	55	1	0	1	1	1	3	55					T	80885834	G	T	80885834	3	4	513	1	0	0	0	0	1	0	0	0	15630	1116	39	4	2781	4	TBCD	17	80885834	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	63187084	80885834	309376	17	40628											
PPM1F	9647	broad.mit.edu	37	chr22	22285639	22285639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaatgagcgcacacaCacctgtggtgccgctctgca	10	15	1	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:22285639C>T	ENST00000263212.5	-	6	877	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	PPM1F_ENST00000407142.1_Missense_Mutation_p.V90M|PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	258					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGCGCACACACACCTGTGGTG	0.622																																						ENST00000407142.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(268-270)Gtg>Atg		protein phosphatase, Mg2+/Mn2+ dependent, 1F							57	45	49					22																	22285639		2203	4300	6503	SO:0001583	missense	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22285639C>T	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.772G>A	22.37:g.22285639C>T	ENSP00000263212:p.Val258Met					PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M|PPM1F_ENST00000263212.5_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M	p.V90M			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	4	1328	-	Colorectal(54;0.105)		258					A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	c.268G>A	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958764	0.92726	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.84	4.84	0.62591	Protein phosphatase 2C-like (5);	0.058583	0.64402	D	0.000002	T	0.61924	0.2386	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.75619	-0.3255	10	0.87932	D	0	-28.4068	18.5176	0.90941	0.0:1.0:0.0:0.0	.	154;258;258	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	M	258;90;90;154;258	ENSP00000263212:V258M;ENSP00000384930:V90M;ENSP00000439915:V154M;ENSP00000380632:V258M	ENSP00000263212:V258M	V	-	1	0	PPM1F	20615639	1.000000	0.71417	0.911000	0.35937	0.654000	0.38779	7.567000	0.82357	2.700000	0.92200	0.561000	0.74099	GTG		0.622	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		26	25	0	0	0	1	0	26	25					T	22285639	C	T	22285639	3	4	513	1	0	0	0	0	1	0	0	0	12339	478	17	2	604	2	PPM1F	22	22285639	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		22285639	29018927	18	40629											
RFPL2	10739	broad.mit.edu	37	chr22	32588988	32588988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctagctgccgattgcGcctgattttgttcttccgag	9	13	2	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:32588988G>A	ENST00000400237.1	-	4	1392	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000400236.3_Missense_Mutation_p.R63C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C			O75678	RFPL2_HUMAN	ret finger protein-like 2	153							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCCGATTGCGCCTGATTTTG	0.522																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(187-189)Cgc>Tgc		ret finger protein-like 2							108	108	108					22																	32588988		2203	4300	6503	SO:0001583	missense	10739						zinc ion binding	g.chr22:32588988G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.457C>T	22.37:g.32588988G>A	ENSP00000383096:p.Arg153Cys					RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Missense_Mutation_p.R153C	p.R63C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			4	1392	-			153						Missense_Mutation	SNP	ENST00000400237.1	37	c.187C>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659794	0.14645	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	0.636	0.636	0.17729	Zinc finger, RING/FYVE/PHD-type (1);RDM domain, Ret finger protein-like (1);	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	P;B	0.45283	0.855;0.224	B;B	0.28305	0.088;0.01	T	0.22800	-1.0206	8	0.66056	D	0.02	.	.	.	.	.	153;92	O75678;O75678-3	RFPL2_HUMAN;.	C	92;63;63;153	ENSP00000248980:R92C;ENSP00000248983:R63C;ENSP00000383095:R63C;ENSP00000383096:R153C	ENSP00000248980:R92C	R	-	1	0	RFPL2	30918988	0.339000	0.24784	0.008000	0.14137	0.005000	0.04900	0.907000	0.28531	0.608000	0.30000	0.460000	0.39030	CGC		0.522	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		5	102	0	0	0	1	0	5	102					A	32588988	G	A	32588988	3	1	513	1	0	0	0	0	1	0	0	0	13254	1087	38	1	687	1	RFPL2	22	32588988	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	10303349	32588988	18715578	19	40630											
ATRX	546	broad.mit.edu	37	chrX	76845304	76845304	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaatatttgtagctcacCtttataaataaggggtttat	7	5	1	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chrX:76845304C>T	ENST00000373344.5	-	27	6431	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	ATRX_ENST00000395603.3_Splice_Site_p.G2035S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2073	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						TGTAGCTCACCTTTATAAATA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.e27+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						47	45	46					X																	76845304		2203	4292	6495	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76845304C>T	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.6217+1G>A	X.37:g.76845304C>T						ATRX_ENST00000395603.3_Splice_Site_p.G2035_splice|ATRX_ENST00000480283.1_5'UTR	p.G2073_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			27	6431	-			2073			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.6217_splice	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839775	0.71488	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93019	-3.14;-3.15	5.28	5.28	0.74379	Helicase, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.95098	0.8412	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.953	D	0.94471	0.7685	9	.	.	.	-8.7698	17.6331	0.88114	0.0:1.0:0.0:0.0	.	2035;2073	P46100-4;P46100	.;ATRX_HUMAN	S	2073;2035	ENSP00000362441:G2073S;ENSP00000378967:G2035S	.	G	-	1	0	ATRX	76731960	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.372000	0.79612	2.200000	0.70718	0.523000	0.50628	GGT		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	22	2	0	0	0	1	0	22	2					T	76845304	C	T	76845304	5	4	513	1	0	0	0	0	0	0	1	0	1208	695	24	2	1297	2	ATRX	23	76845304	Splice_Site	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		76845304	78425256	20	40631											
WDR8	49856	broad.mit.edu	37	chr1	3551833	3551833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtggacaacaaccggccaTccaatgagtacagcagaatc	9	12	0	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:3551833T>C	ENST00000270708.7	-	7	702	c.629A>G	c.(628-630)gAt>gGt	p.D210G	WRAP73_ENST00000378322.3_Missense_Mutation_p.D210G	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	210						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CAACCGGCCATCCAATGAGTA	0.542																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(628-630)gAt>gGt		WD repeat containing, antisense to TP73							79	79	79					1																	3551833		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3551833T>C	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.629A>G	1.37:g.3551833T>C	ENSP00000270708:p.Asp210Gly					WRAP73_ENST00000270708.7_Missense_Mutation_p.D210G	p.D210G			Q9P2S5	WRP73_HUMAN			7	687	-			210					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.629A>G	CCDS48.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015351	0.35511	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000419924	T;T	0.52057	3.39;0.68	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69595	-0.5103	10	0.39692	T	0.17	-30.4422	15.0143	0.71573	0.0:0.0:0.0:1.0	.	210	Q9P2S5	WRP73_HUMAN	G	210;210;181	ENSP00000270708:D210G;ENSP00000367573:D210G	ENSP00000270708:D210G	D	-	2	0	WRAP73	3541693	1.000000	0.71417	0.917000	0.36280	0.015000	0.08874	7.391000	0.79828	2.140000	0.66376	0.533000	0.62120	GAT		0.542	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			56	51	0	0	0	1	0	56	51					C	3551833	T	C	3551833	3	2	514	1	0	0	0	0	1	0	0	0	17326	1435	50	3	777	3	WDR8	1	3551833	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		3551833	245698788	1	40632											
COL24A1	255631	broad.mit.edu	37	chr1	86591609	86591609	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctactaattttttaggtagtAattgtactcctaattgcagt	6	6	0	0	rs368561891		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:86591609A>T	ENST00000370571.2	-	3	776	c.410T>A	c.(409-411)tTa>tAa	p.L137*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	137					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)		TTTAGGTAGTAATTGTACTCC	0.363																																						ENST00000370571.2																			0				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						c.(409-411)tTa>tAa		collagen, type XXIV, alpha 1							51	49	49					1																	86591609		1838	4085	5923	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591609A>T	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.410T>A	1.37:g.86591609A>T	ENSP00000359603:p.Leu137*					COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137*	p.L137*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	776	-			137			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.410T>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142508	0.77888	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.82	5.82	0.92795	.	0.000000	0.31323	N	0.007860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3471	0.74346	1.0:0.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000359603:L137X	L	-	2	0	COL24A1	86364197	0.999000	0.42202	0.367000	0.25926	0.829000	0.46940	8.908000	0.92640	2.220000	0.72140	0.533000	0.62120	TTA		0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		34	46	0	0	0	1	0	34	46					T	86591609	A	T	86591609	4	4	514	1	0	0	0	0	0	1	0	0	3683	372	13	5	4966	5	COL24A1	1	86591609	Nonsense_Mutation	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	83039776	86591609	162659012	2	40633											
LRRC52	440699	broad.mit.edu	37	chr1	165532816	165532816	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggtggggaacccactcCgatacatgtgcatcacgcac	11	15	1	0			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:165532816C>T	ENST00000294818.1	+	2	987	c.697C>T	c.(697-699)Cga>Tga	p.R233*	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	233	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAACCCACTCCGATACATGTG	0.567																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(697-699)Cga>Tga		leucine rich repeat containing 52							70	56	61					1																	165532816		2203	4300	6503	SO:0001587	stop_gained	440699					integral to membrane		g.chr1:165532816C>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.697C>T	1.37:g.165532816C>T	ENSP00000294818:p.Arg233*					RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	p.R233*	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			2	987	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		233			LRRCT.		A2RUN7|Q5T9K5	Nonsense_Mutation	SNP	ENST00000294818.1	37	c.697C>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326684	0.97476	.	.	ENSG00000162763	ENST00000294818	.	.	.	4.22	3.24	0.37175	.	0.363277	0.27768	N	0.017927	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	9.7758	0.40618	0.2048:0.7952:0.0:0.0	.	.	.	.	X	233	.	ENSP00000294818:R233X	R	+	1	2	LRRC52	163799440	0.977000	0.34250	0.934000	0.37439	0.891000	0.51852	2.554000	0.45845	2.050000	0.60909	0.655000	0.94253	CGA		0.567	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		15	34	0	0	0	1	0	15	34					T	165532816	C	T	165532816	4	4	514	1	0	0	0	0	0	1	0	0	9010	644	23	1	703	1	LRRC52	1	165532816	Nonsense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	78941207	165532816	83717805	3	40634											
FAM129A	116496	broad.mit.edu	37	chr1	184777346	184777346	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacggaatgcagcggAagattcataagccggtctag	11	9	4	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:184777346A>G	ENST00000367511.3	-	10	1390	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	399					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AATGCAGCGGAAGATTCATAA	0.453																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1195-1197)ctT>ctC		family with sequence similarity 129, member A							63	64	63					1																	184777346		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777346A>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1197T>C	1.37:g.184777346A>G						FAM129A_ENST00000487074.1_5'UTR	p.L399L	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			10	1390	-			399					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1197T>C	CCDS1364.1																																																																																				0.453	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			7	55	0	0	0	1	0	7	55					G	184777346	A	G	184777346	2	3	514	1	0	0	0	0	0	0	0	1	5436	233	9	3		3	FAM129A	1	184777346	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	19244530	184777346	64473275	4	40635											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			53	58	0	0	0	1	0	53	58					C	209113113	G	C	209113113	3	2	514	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		209113113	34086260	5	40636											
KTELC1	56983	broad.mit.edu	37	chr3	119196233	119196233	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatggtgatcaatgtaCgagattatcctcaggttcct	11	7	2	3	rs140695299		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr3:119196233C>T	ENST00000295588.4	+	4	478	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	132					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GATCAATGTACGAGATTATCC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		22080	0.001		0.0	False		,,,				2504	0.0					ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(394-396)Cga>Tga		protein O-glucosyltransferase 1							189	171	177					3																	119196233		2203	4300	6503	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119196233C>T	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.394C>T	3.37:g.119196233C>T	ENSP00000295588:p.Arg132*						p.R132*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			4	478	+			132					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.394C>T	CCDS2988.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	22.7|22.7	4.330650|4.330650	0.81690|0.81690	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	.|T	.|0.65365	.|0.2684	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69250	.|-0.5194	.|3	0.09084|.	T|.	0.74|.	-8.1386|-8.1386	14.2547|14.2547	0.66043|0.66043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	132|118	.|.	ENSP00000295588:R132X|.	R|T	+|+	1|2	2|0	POGLUT1|POGLUT1	120678923|120678923	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.579000|2.579000	0.46059|0.46059	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.478	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		40	17	0	0	0	1	0	40	17					T	119196233	C	T	119196233	4	4	514	1	0	0	0	0	0	1	0	0	8583	528	19	1	408	1	KTELC1	3	119196233	Nonsense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		119196233	78826197	6	40637											
CCKAR	886	broad.mit.edu	37	chr4	26483533	26483533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgcggaggcggtgtcGtaggcccgccaggcgttggc	18	13	1	0	rs200960240		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597																																						ENST00000295589.3																			1	Substitution - coding silent(1)	p.Y338Y(1)	large_intestine(1)	NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1012-1014)taC>taT		cholecystokinin A receptor	Ceruletide(DB00403)						101	90	94					4																	26483533		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483533G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1014C>T	4.37:g.26483533G>A							p.Y338Y	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1208	-		Breast(46;0.0503)	338					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.1014C>T	CCDS3438.1																																																																																				0.597	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			5	96	0	0	0	1	0	5	96					A	26483533	G	A	26483533	2	1	514	1	0	0	0	0	0	0	0	1	2880	1140	40	1		1	CCKAR	4	26483533	Silent	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		26483533	164670743	7	40638											
C4orf49	84709	broad.mit.edu	37	chr4	140188136	140188136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccacctcagcttccactaTaagttcttctggggcttctg	7	13	4	0			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:140188136T>C	ENST00000398955.1	-	4	519	c.340A>G	c.(340-342)Ata>Gta	p.I114V		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	114					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											GCTTCCACTATAAGTTCTTCT	0.438																																						ENST00000398955.1																			0											c.(340-342)Ata>Gta		mitochondria-localized glutamic acid-rich protein							172	163	166					4																	140188136		1929	4142	6071	SO:0001583	missense	84709					integral to membrane		g.chr4:140188136T>C	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.340A>G	4.37:g.140188136T>C	ENSP00000381928:p.Ile114Val						p.I114V	NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN			4	519	-			114					Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	c.340A>G	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.368905	0.01225	.	.	ENSG00000137463	ENST00000398955	T	0.38722	1.12	5.43	2.59	0.31030	.	1.917910	0.02157	N	0.058441	T	0.16811	0.0404	N	0.01048	-1.04	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.34403	-0.9830	10	0.06494	T	0.89	-1.0759	8.971	0.35905	0.168:0.7428:0.0:0.0891	.	114	Q8TDB4	CD049_HUMAN	V	114	ENSP00000381928:I114V	ENSP00000381928:I114V	I	-	1	0	C4orf49	140407586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.351000	0.07711	0.181000	0.19994	-0.407000	0.06327	ATA		0.438	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		27	241	0	0	0	1	0	27	241					C	140188136	T	C	140188136	3	2	514	1	0	0	0	0	1	0	0	0	2275	1406	49	3	386	3	C4orf49	4	140188136	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	113704603	140188136	50966140	8	40639											
SNX25	83891	broad.mit.edu	37	chr4	186263216	186263216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagttgaaactaagaactgGacggtccccagaaggctcag	13	9	1	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:186263216G>A	ENST00000504273.1	+	12	1935	c.1641G>A	c.(1639-1641)tgG>tgA	p.W547*	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547*			Q9H3E2	SNX25_HUMAN	sorting nexin 25	547	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTAAGAACTGGACGGTCCCCA	0.433																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1639-1641)tgG>tgA		sorting nexin 25							161	160	160					4																	186263216		2203	4300	6503	SO:0001587	stop_gained	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263216G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1641G>A	4.37:g.186263216G>A	ENSP00000426255:p.Trp547*					SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547*	p.W547*			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	12	1935	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	547			PX.		Q3ZT30|Q8N6K3	Nonsense_Mutation	SNP	ENST00000504273.1	37	c.1641G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	42	9.277423	0.99122	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3289	19.7418	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	547;547;80	.	ENSP00000264693:W80X	W	+	3	0	SNX25	186500210	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.829000	0.92055	2.671000	0.90904	0.643000	0.83706	TGG		0.433	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		58	99	0	0	0	1	0	58	99					A	186263216	G	A	186263216	4	1	514	1	0	0	0	0	0	1	0	0	14896	1183	41	2	1683	2	SNX25	4	186263216	Nonsense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	46075080	186263216	4891060	9	40640											
DDX4	54514	broad.mit.edu	37	chr5	55083767	55083767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaaccagagtgtattattGtagcaccaactcgagaattg	10	7	0	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:55083767G>T	ENST00000505374.1	+	15	1203	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L|DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	371	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGTATTATTGTAGCACCAAC	0.388																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1111-1113)Gta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							79	82	81					5																	55083767		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083767G>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1111G>T	5.37:g.55083767G>T	ENSP00000424838:p.Val371Leu					DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L	p.V371L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			15	1203	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	371			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1111G>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186601	0.78789	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.59	5.59	0.84812	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.00885	-1.115	0.46167	D	0.998901	B;D;B;D	0.64830	0.114;0.985;0.221;0.994	B;P;B;P	0.62089	0.053;0.754;0.251;0.898	T	0.47736	-0.9094	10	0.40728	T	0.16	-23.1918	11.0033	0.47618	0.1434:0.0:0.8566:0.0	.	351;222;337;371	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	337;351;371;351;337;222	ENSP00000334167:V337L;ENSP00000425359:V351L;ENSP00000424838:V371L;ENSP00000427167:V351L;ENSP00000347087:V337L;ENSP00000423123:V222L	ENSP00000334167:V337L	V	+	1	0	DDX4	55119524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.201000	0.72124	2.640000	0.89533	0.655000	0.94253	GTA		0.388	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		51	56	1	0	1.81118e-26	1	2.06391e-26	51	56					T	55083767	G	T	55083767	3	4	514	1	0	0	0	0	1	0	0	0	4360	1377	48	4	1206	4	DDX4	5	55083767	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		55083767	125831493	10	40641											
SLIT3	6586	broad.mit.edu	37	chr5	168310292	168310292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcacatcggtgatgcCgcggaacgccttcctcggga	12	13	2	1	rs544300249		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:168310292C>T	ENST00000519560.1	-	5	882	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S|SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	155					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGTGATGCCGCGGAACGCC	0.502																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(463-465)Ggc>Agc		slit homolog 3 (Drosophila)							134	109	117					5																	168310292		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310292C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.463G>A	5.37:g.168310292C>T	ENSP00000430333:p.Gly155Ser					SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S|SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S	p.G155S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	882	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	155					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.463G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229373	0.79688	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.61510	0.1;0.1;0.1	4.97	4.97	0.65823	.	0.060489	0.64402	D	0.000004	T	0.74650	0.3744	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.97110	0.524;1.0	T	0.77918	-0.2408	10	0.87932	D	0	.	18.2459	0.89985	0.0:1.0:0.0:0.0	.	155;155	O75094-2;O75094	.;SLIT3_HUMAN	S	155	ENSP00000430333:G155S;ENSP00000332164:G155S;ENSP00000384890:G155S	ENSP00000332164:G155S	G	-	1	0	SLIT3	168242870	1.000000	0.71417	0.931000	0.37212	0.649000	0.38597	6.278000	0.72614	2.288000	0.76882	0.655000	0.94253	GGC		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		23	28	0	0	0	1	0	23	28					T	168310292	C	T	168310292	3	4	514	1	0	0	0	0	1	0	0	0	14741	652	23	1	4236	1	SLIT3	5	168310292	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	113226525	168310292	12604968	11	40642											
GPRC6A	222545	broad.mit.edu	37	chr6	117130667	117130667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccactgtgacttctgtaCaagtgtcatagatttcatac	7	9	3	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117130667C>A	ENST00000310357.3	-	2	329	c.308G>T	c.(307-309)tGt>tTt	p.C103F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	103					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)	p.C103F(1)		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)		GACTTCTGTACAAGTGTCATA	0.413																																						ENST00000310357.3																			1	Substitution - Missense(1)	p.C103F(1)	lung(1)	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						c.(307-309)tGt>tTt		G protein-coupled receptor, family C, group 6, member A							101	93	96					6																	117130667		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130667C>A	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.308G>T	6.37:g.117130667C>A	ENSP00000309493:p.Cys103Phe					GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F|GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F	p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	329	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	103					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.308G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151866	0.78001	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85171	-1.95;-1.95;-1.95	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93383	0.7890	M	0.91038	3.17	0.42100	D	0.99133	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94198	0.7447	10	0.59425	D	0.04	.	18.0766	0.89428	0.0:1.0:0.0:0.0	.	103;103;103	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	F	103	ENSP00000309493:C103F;ENSP00000357537:C103F;ENSP00000433465:C103F	ENSP00000309493:C103F	C	-	2	0	GPRC6A	117237360	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	6.860000	0.75473	2.491000	0.84063	0.650000	0.86243	TGT		0.413	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			30	39	1	0	1.16021e-09	1	1.20958e-09	30	39					A	117130667	C	A	117130667	3	1	514	1	0	0	0	0	1	0	0	0	6728	478	17	4	2492	4	GPRC6A	6	117130667	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		117130667	53984400	12	40643											
ROS1	6098	broad.mit.edu	37	chr6	117663696	117663696	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaataagagctatactGtcctgaaattcctgtaattg	6	8	2	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117663696G>C	ENST00000368508.3	-	28	4734	c.4536C>G	c.(4534-4536)gaC>gaG	p.D1512E	ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1512	Fibronectin type-III 6. {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)		GAGCTATACTGTCCTGAAATT	0.259			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				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						c.(4534-4536)gaC>gaG		c-ros oncogene 1 , receptor tyrosine kinase							55	58	57					6																	117663696		2201	4296	6497	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117663696G>C	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.4536C>G	6.37:g.117663696G>C	ENSP00000357494:p.Asp1512Glu					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E	p.D1512E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	28	4734	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1512			Fibronectin type-III 6.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4536C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	0.075	-1.195312	0.01594	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.52295	0.67;0.67	5.32	0.221	0.15283	.	0.272675	0.31312	N	0.007864	T	0.04952	0.0133	N	0.03608	-0.345	0.23076	N	0.998339	B	0.02656	0.0	B	0.01281	0.0	T	0.43032	-0.9416	10	0.02654	T	1	.	7.7644	0.28972	0.0:0.3651:0.4636:0.1714	.	1512	P08922	ROS1_HUMAN	E	1512;1506	ENSP00000357494:D1512E;ENSP00000357493:D1506E	ENSP00000357493:D1506E	D	-	3	2	ROS1	117770389	0.006000	0.16342	0.290000	0.24890	0.827000	0.46813	-0.162000	0.10012	0.035000	0.15519	0.561000	0.74099	GAC		0.259	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	21	0	0	0	1	0	13	21					C	117663696	G	C	117663696	3	2	514	1	0	0	0	0	1	0	0	0	13531	1368	48	4	2571	4	ROS1	6	117663696	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	533029	117663696	53451371	13	40644											
DNAH11	8701	broad.mit.edu	37	chr7	21781718	21781718	+	Frame_Shift_Del	DEL	C	C	-													catcagacaatgatgtgtaaCtttttacccacggctattaa							TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:21781718delC	ENST00000409508.3	+	49	8119	c.8088delC	c.(8086-8088)aacfs	p.N2696fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.N2703fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2703	AAA 3. {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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGTGTAACTTTTTACCCA	0.418									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8107-8109)aafs		dynein, axonemal, heavy chain 11							120	114	116					7																	21781718		1873	4111	5984	SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21781718delC	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8088delC	7.37:g.21781718delC	ENSP00000475939:p.Asn2696fs					DNAH11_ENST00000409508.3_Frame_Shift_Del_p.N2696fs	p.N2703fs			Q96DT5	DYH11_HUMAN			50	8140	+			2703			AAA 3 (By similarity).		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37	c.8109delC																																																																																					0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		36	74						36	74	---	---	---	---	-	21781718	C	-	21781718	7	5	514	1	0	1	0	1	0	0	0	0	4599	564	20	0	8304	0	DNAH11	7	21781718	Frame_Shift_Del	DEL	C	TCGA-WY-A85C-01A-11D-A36O-08		21781718	137356945	14	40645											
OR2A12	346525	broad.mit.edu	37	chr7	143792751	143792751	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaatcatgtccgtatTcaaattggcctgtgctgaca	8	10	3	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:143792751T>A	ENST00000408949.2	+	1	611	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184						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(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATGTCCGTATTCAAATTGGCC	0.493																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(550-552)tTc>tAc		olfactory receptor, family 2, subfamily A, member 12							169	161	163					7																	143792751		1971	4147	6118	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792751T>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"GPCR / Class A : Olfactory receptors"	15082	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 12 pseudogene"	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.551T>A	7.37:g.143792751T>A	ENSP00000386174:p.Phe184Tyr						p.F184Y	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	611	+	Melanoma(164;0.0783)		184					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.551T>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316725	0.23908	.	.	ENSG00000221858	ENST00000408949	T	0.00107	8.72	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.42529	1.33	0.09310	N	1	B	0.31599	0.33	B	0.40602	0.334	T	0.40156	-0.9578	9	0.87932	D	0	-19.7925	11.2945	0.49269	0.0:0.0:0.0:1.0	.	184	Q8NGT7	O2A12_HUMAN	Y	184	ENSP00000386174:F184Y	ENSP00000386174:F184Y	F	+	2	0	OR2A12	143423684	0.003000	0.15002	0.003000	0.11579	0.015000	0.08874	1.480000	0.35464	1.770000	0.52166	0.413000	0.27773	TTC		0.493	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			12	146	0	0	0	1	0	12	146					A	143792751	T	A	143792751	3	1	514	1	0	0	0	0	1	0	0	0	10975	1783	62	5	553	5	OR2A12	7	143792751	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	122011033	143792751	15345912	15	40646											
GEM	2669	broad.mit.edu	37	chr8	95272441	95272441	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatgctgtcatgcacAcctgcaaagatgttggccag	10	12	1	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr8:95272441A>G	ENST00000297596.2	-	2	555	c.291T>C	c.(289-291)ggT>ggC	p.G97G	GEM_ENST00000396194.2_Silent_p.G97G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	97					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTCATGCACACCTGCAAAGA	0.592																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(289-291)ggT>ggC		GTP binding protein overexpressed in skeletal muscle							97	92	94					8																	95272441		2203	4300	6503	SO:0001819	synonymous_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95272441A>G		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.291T>C	8.37:g.95272441A>G						GEM_ENST00000396194.2_Silent_p.G97G	p.G97G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		2	555	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	97					B2RA31	Silent	SNP	ENST00000297596.2	37	c.291T>C	CCDS6261.1																																																																																				0.592	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		28	56	0	0	0	1	0	28	56					G	95272441	A	G	95272441	2	3	514	1	0	0	0	0	0	0	0	1	6329	146	6	3		3	GEM	8	95272441	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08		95272441	51091581	16	40647											
SLK	9748	broad.mit.edu	37	chr10	105765409	105765409	+	Frame_Shift_Del	DEL	A	A	-													taacaacatcaaagatagttAcagatagtgattccaaaact							TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr10:105765409delA	ENST00000369755.3	+	10	2985	c.2440delA	c.(2440-2442)acafs	p.T814fs	SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	814					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)		AAAGATAGTTACAGATAGTGA	0.343																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(2440-2442)cafs		STE20-like kinase							103	102	102					10																	105765409		2203	4298	6501	SO:0001589	frameshift_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105765409delA		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.2440delA	10.37:g.105765409delA	ENSP00000358770:p.Thr814fs					SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs	p.T814fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	10	2985	+		Colorectal(252;0.178)	814					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Del	DEL	ENST00000369755.3	37	c.2440delA	CCDS7553.1																																																																																				0.343	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		33	35						33	35	---	---	---	---	-	105765409	A	-	105765409	7	5	514	1	0	1	0	1	0	0	0	0	14748	391	14	0	2478	0	SLK	10	105765409	Frame_Shift_Del	DEL	A	TCGA-WY-A85C-01A-11D-A36O-08		105765409	29769338	17	40648											
OR10A4	283297	broad.mit.edu	37	chr11	6898108	6898108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagataggtttcaacttggTcattgtgcccaagatgctgg	13	7	2	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:6898108T>C	ENST00000379829.2	+	1	253	c.230T>C	c.(229-231)gTc>gCc	p.V77A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	77					axon guidance (GO:0007411)	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(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCAACTTGGTCATTGTGCCC	0.458																																						ENST00000379829.2																			0				kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(229-231)gTc>gCc		olfactory receptor, family 10, subfamily A, member 4							151	138	143					11																	6898108		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898108T>C	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"GPCR / Class A : Olfactory receptors"	15130	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily A, member 4 pseudogene"	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.230T>C	11.37:g.6898108T>C	ENSP00000369157:p.Val77Ala						p.V77A	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	253	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	77					B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.230T>C	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	t	7.119	0.577604	0.13686	.	.	ENSG00000170782	ENST00000379829	T	0.00557	6.62	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001070	T	0.00440	0.0014	N	0.12887	0.27	0.24807	N	0.992663	B	0.27679	0.185	B	0.36418	0.224	T	0.51395	-0.8711	10	0.46703	T	0.11	.	7.4235	0.27085	0.0:0.095:0.0:0.9049	.	77	Q9H209	O10A4_HUMAN	A	77	ENSP00000369157:V77A	ENSP00000369157:V77A	V	+	2	0	OR10A4	6854684	0.000000	0.05858	1.000000	0.80357	0.234000	0.25298	0.302000	0.19192	2.193000	0.70182	0.533000	0.62120	GTC		0.458	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		6	89	0	0	0	1	0	6	89					C	6898108	T	C	6898108	3	2	514	1	0	0	0	0	1	0	0	0	10892	1667	58	3	232	3	OR10A4	11	6898108	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		6898108	128108408	18	40649											
PHLDB1	23187	broad.mit.edu	37	chr11	118513008	118513021	+	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	CAGTGGTACCAGGA	-													tccctgctgtagacttagagCagtggtaccaggagctgatg					rs543691017		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:118513008_118513021delCAGTGGTACCAGGA	ENST00000361417.2	+	14	3184_3197	c.2773_2786delCAGTGGTACCAGGA	c.(2773-2787)cagtggtaccaggagfs	p.QWYQE925fs	PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	925										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGACTTAGAGCAGTGGTACCAGGAGCTGATGGCC	0.64																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2773-2787)gfs		pleckstrin homology-like domain, family B, member 1																																				SO:0001589	frameshift_variant	23187							g.chr11:118513008_118513021delCAGTGGTACCAGGA		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2773_2786delCAGTGGTACCAGGA	11.37:g.118513008_118513021delCAGTGGTACCAGGA	ENSP00000354498:p.Gln925fs					PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs	p.QWYQE925fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	14	3184_3197	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	925					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Del	DEL	ENST00000361417.2	37	c.2773_2786delCAGTGGTACCAGGA	CCDS8401.1																																																																																				0.64	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		24	102						24	102	---	---	---	---	-	118513021	CAGTGGTACCAGGA	-	118513008	7	5	514	1	0	1	0	1	0	0	0	0	11851	711	25	0	2819	0	PHLDB1	11	118513008	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	TCGA-WY-A85C-01A-11D-A36O-08	111614900	118513008	16493508	19	40650											
CHD4	1108	broad.mit.edu	37	chr12	6690297	6690297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcagggggttcaacaaCgaccttttcatcctctgagg	9	13	4	1	rs201992075		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:6690297C>T	ENST00000357008.2	-	33	4985	c.4822G>A	c.(4822-4824)Gtt>Att	p.V1608I	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I|CHD4_ENST00000309577.6_Missense_Mutation_p.V1636I|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1608	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						GGTTCAACAACGACCTTTTCA	0.478																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4906-4908)Gtt>Att		chromodomain helicase DNA binding protein 4							195	205	202					12																	6690297		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690297C>T	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.4822G>A	12.37:g.6690297C>T	ENSP00000349508:p.Val1608Ile					CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000357008.2_Missense_Mutation_p.V1608I|RP5-940J5.6_ENST00000501075.2_RNA	p.V1636I			Q14839	CHD4_HUMAN			32	5069	-			1608			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4906G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870678	0.17322	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90004	-2.6;-2.59;-2.6;-2.59	5.46	3.59	0.41128	.	0.833228	0.10648	N	0.650147	T	0.79924	0.4530	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.012	B;B;B	0.09377	0.004;0.002;0.004	T	0.65175	-0.6232	10	0.38643	T	0.18	.	15.1643	0.72811	0.0:0.2803:0.7196:0.0	.	1636;1608;1601	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1633;1601;1636;1608;1582	ENSP00000440392:V1633I;ENSP00000440542:V1601I;ENSP00000312419:V1636I;ENSP00000349508:V1608I	ENSP00000312419:V1636I	V	-	1	0	CHD4	6560558	0.899000	0.30636	0.024000	0.17045	0.279000	0.26890	2.065000	0.41442	0.753000	0.32945	-0.165000	0.13383	GTT		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		68	95	0	0	0	1	0	68	95					T	6690297	C	T	6690297	3	4	514	1	0	0	0	0	1	0	0	0	3327	536	19	1	948	1	CHD4	12	6690297	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		6690297	127161598	20	40651											
MDM2	4193	broad.mit.edu	37	chr12	69210669	69210669	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatattgtatattgttcAaatgatcttctaggagattt	6	5	3	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:69210669A>C	ENST00000350057.5	+	2	159	c.159A>C	c.(157-159)tcA>tcC	p.S53S	MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Silent_p.S84S|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	78	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|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)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TATATTGTTCAAATGATCTTC	0.343			A		"sarcoma, glioma, colorectal, other"																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"M, O, E, L"			"sarcoma, glioma, colorectal, other"		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(250-252)tcA>tcC		MDM2 oncogene, E3 ubiquitin protein ligase							104	96	99					12																	69210669		1824	4083	5907	SO:0001819	synonymous_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69210669A>C		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.159A>C	12.37:g.69210669A>C						MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Silent_p.S53S|MDM2_ENST00000348801.2_Intron	p.S84S	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	554	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		78			Necessary for interaction with USP2.|SWIB.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP	ENST00000350057.5	37	c.252A>C																																																																																					0.343	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		33	43	0	0	0	1	0	33	43					C	69210669	A	C	69210669	2	2	514	1	0	0	0	0	0	0	0	1	9413	117	5	5		5	MDM2	12	69210669	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	62520372	69210669	64641226	21	40652											
C12orf64	283310	broad.mit.edu	37	chr12	80732944	80732944	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtatgtaattactacTccagctggactaatcataaa	5	8	2	0			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:80732944T>C	ENST00000547103.1	+	42	4893	c.4887T>C	c.(4885-4887)acT>acC	p.T1629T	OTOGL_ENST00000458043.2_Silent_p.T1641T			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1629	VWFD 4. {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						TAATTACTACTCCAGCTGGAC	0.398																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(4921-4923)acT>acC		otogelin-like							193	192	192					12																	80732944		1884	4101	5985	SO:0001819	synonymous_variant	283310							g.chr12:80732944T>C	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.4887T>C	12.37:g.80732944T>C						OTOGL_ENST00000547103.1_Silent_p.T1629T	p.T1641T	NM_173591.3	NP_775862.3					42	4929	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.4923T>C		.	.	.	.	.	.	.	.	.	.	T	10.34	1.324362	0.24080	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.72	0.336	0.15958	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	.	2.9123	0.05740	0.1077:0.1262:0.334:0.4322	.	.	.	.	P	84	.	.	L	+	2	0	OTOGL	79257075	0.980000	0.34600	0.995000	0.50966	0.999000	0.98932	0.011000	0.13264	-0.173000	0.10761	0.528000	0.53228	CTC		0.398	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	128	0	0	0	1	0	4	128					C	80732944	T	C	80732944	2	2	514	1	0	0	0	0	0	0	0	1	1707	1538	54	3		3	C12orf64	12	80732944	Silent	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	11522275	80732944	53118951	22	40653											
C12orf51	283450	broad.mit.edu	37	chr12	112605177	112605177	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcttcctgcaggtcttGctcagggtccaagggctcgc	12	14	2	0			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:112605177G>A	ENST00000430131.2	-	71	12357	c.11212C>T	c.(11212-11214)Caa>Taa	p.Q3738*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.Q4014*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3988*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3738	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										TGCAGGTCTTGCTCAGGGTCC	0.617																																						ENST00000550722.1																			0											c.(12040-12042)Caa>Taa		HECT domain containing E3 ubiquitin protein ligase 4							82	90	87					12																	112605177		2056	4190	6246	SO:0001587	stop_gained	283450							g.chr12:112605177G>A	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.11212C>T	12.37:g.112605177G>A	ENSP00000404379:p.Gln3738*					HECTD4_ENST00000430131.2_Nonsense_Mutation_p.Q3738*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3988*	p.Q4014*	NM_001109662.3	NP_001103132.3					72	12435	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.12040C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.324009	0.97476	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	.	.	.	5.45	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	10.2721	0.43489	0.0:0.2038:0.6815:0.1148	.	.	.	.	X	3988;3738;4014;203	.	ENSP00000366783:Q3988X	Q	-	1	0	C12orf51	111089560	0.016000	0.18221	0.998000	0.56505	0.974000	0.67602	0.955000	0.29188	2.576000	0.86940	0.491000	0.48974	CAA		0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		64	81	0	0	0	1	0	64	81					A	112605177	G	A	112605177	4	1	514	1	0	0	0	0	0	1	0	0	1696	1328	46	2	798	2	C12orf51	12	112605177	Nonsense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	31872233	112605177	21246718	23	40654											
MTUS2	23281	broad.mit.edu	37	chr13	29600725	29600725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaggacagaaactaaGcccatcattatgcccaagcc	10	11	1	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:29600725G>T	ENST00000431530.3	+	1	1978	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	630						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						CAGAAACTAAGCCCATCATTA	0.542																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1918-1920)aaG>aaT		microtubule associated tumor suppressor candidate 2							38	42	41					13																	29600725		2027	4187	6214	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600725G>T	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.1920G>T	13.37:g.29600725G>T	ENSP00000392057:p.Lys640Asn						p.K640N	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1978	+			630					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1920G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181898	0.57800	.	.	ENSG00000132938	ENST00000431530	T	0.15603	2.41	5.91	4.17	0.49024	.	0.000000	0.56097	D	0.000021	T	0.23492	0.0568	M	0.64997	1.995	0.80722	D	1	D	0.53462	0.96	P	0.52856	0.711	T	0.05321	-1.0892	9	.	.	.	.	2.7632	0.05313	0.1597:0.146:0.5433:0.1511	.	630	Q5JR59	MTUS2_HUMAN	N	640	ENSP00000392057:K640N	.	K	+	3	2	MTUS2	28498725	0.999000	0.42202	0.850000	0.33497	0.961000	0.63080	0.724000	0.25954	0.829000	0.34733	0.655000	0.94253	AAG		0.542	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		14	27	1	0	2.61681e-11	1	2.78748e-11	14	27					T	29600725	G	T	29600725	3	4	514	1	0	0	0	0	1	0	0	0	9966	962	34	4	1922	4	MTUS2	13	29600725	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		29600725	85569153	24	40655											
EFNB2	1948	broad.mit.edu	37	chr13	107165059	107165059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccatataaactttataaTattcatactggccaacagtt	3	9	1	0			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:107165059T>G	ENST00000245323.4	-	2	373	c.224A>C	c.(223-225)tAt>tCt	p.Y75S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	75	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AACTTTATAATATTCATACTG	0.393																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(223-225)tAt>tCt		ephrin-B2							126	133	131					13																	107165059		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107165059T>G	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.224A>C	13.37:g.107165059T>G	ENSP00000245323:p.Tyr75Ser						p.Y75S	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			2	373	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		75					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.224A>C	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933027	0.52866	.	.	ENSG00000125266	ENST00000245323	D	0.93307	-3.2	5.41	5.41	0.78517	Cupredoxin (2);	0.111853	0.64402	D	0.000007	D	0.96137	0.8741	M	0.73962	2.25	0.80722	D	1	D	0.56287	0.975	D	0.66602	0.945	D	0.96357	0.9263	10	0.59425	D	0.04	.	15.7499	0.77976	0.0:0.0:0.0:1.0	.	75	P52799	EFNB2_HUMAN	S	75	ENSP00000245323:Y75S	ENSP00000245323:Y75S	Y	-	2	0	EFNB2	105963060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.844000	0.55873	2.188000	0.69820	0.533000	0.62120	TAT		0.393	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		7	131	0	0	0	1	0	7	131					G	107165059	T	G	107165059	3	3	514	1	0	0	0	0	1	0	0	0	4956	1406	49	5	793	5	EFNB2	13	107165059	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	77564334	107165059	8004819	25	40656											
KIAA0586	9786	broad.mit.edu	37	chr14	58955472	58955472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcacagatgccaggtTctgattcatcaacactggag	8	14	4	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr14:58955472T>G	ENST00000556134.1	+	25	3890	c.3616T>G	c.(3616-3618)Tct>Gct	p.S1206A	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S1177A	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1206					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATGCCAGGTTCTGATTCATC	0.488																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3529-3531)Tct>Gct		KIAA0586							89	88	88					14																	58955472		1940	4148	6088	SO:0001583	missense	9786							g.chr14:58955472T>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3616T>G	14.37:g.58955472T>G	ENSP00000452351:p.Ser1206Ala					KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1206A|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A	p.S1177A	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			25	3787	+			1145					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.3529T>G	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831003	0.71258	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.38	4.21	0.49690	.	0.061922	0.64402	N	0.000003	T	0.71324	0.3326	.	.	.	0.36604	D	0.874821	B;D;D;B;B	0.64830	0.096;0.994;0.971;0.096;0.096	B;P;P;B;B	0.61201	0.083;0.885;0.717;0.136;0.136	T	0.78069	-0.2348	9	0.54805	T	0.06	.	12.3495	0.55141	0.0:0.0:0.1413:0.8587	.	1081;1274;1145;1206;1177	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	A	1274;1206;1177;1145	ENSP00000346359:S1274A;ENSP00000452351:S1206A;ENSP00000399427:S1177A;ENSP00000261244:S1145A	ENSP00000261244:S1145A	S	+	1	0	KIAA0586	58025225	1.000000	0.71417	0.173000	0.22940	0.165000	0.22458	2.502000	0.45398	0.956000	0.37904	0.477000	0.44152	TCT		0.488	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		3	62	0	0	0	1	0	3	62					G	58955472	T	G	58955472	3	3	514	1	0	0	0	0	1	0	0	0	8186	1783	62	5	3523	5	KIAA0586	14	58955472	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		58955472	48394068	26	40657											
TTBK2	146057	broad.mit.edu	37	chr15	43038404	43038404	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agaatttgggccaggcgggaGaaaaggtctgagtcggagtt	17	5	1	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr15:43038404G>C	ENST00000267890.6	-	15	3432	c.3324C>G	c.(3322-3324)ttC>ttG	p.F1108L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1108					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCAGGCGGGAGAAAAGGTCTG	0.418																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3322-3324)ttC>ttG		tau tubulin kinase 2							84	80	81					15																	43038404		1835	4075	5910	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038404G>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"spinocerebellar ataxia 11"	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3324C>G	15.37:g.43038404G>C	ENSP00000267890:p.Phe1108Leu						p.F1108L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3432	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1108					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3324C>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787541	0.16258	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.30981	1.51	5.13	3.17	0.36434	.	0.134373	0.52532	D	0.000062	T	0.17789	0.0427	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.06232	-1.0838	10	0.11485	T	0.65	.	10.5189	0.44907	0.1637:0.0:0.8363:0.0	.	1039;1108	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	L	1108;1038;1513	ENSP00000267890:F1108L	ENSP00000263802:F1513L	F	-	3	2	TTBK2	40825696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.477000	0.35431	0.673000	0.31224	-0.345000	0.07892	TTC		0.418	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		19	9	0	0	0	1	0	19	9					C	43038404	G	C	43038404	3	2	514	1	0	0	0	0	1	0	0	0	16674	933	33	4	414	4	TTBK2	15	43038404	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		43038404	59492988	27	40658											
CACNG3	10368	broad.mit.edu	37	chr16	24372736	24372736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggagaccccgggcagcGtgactccaaaaaaagttact	11	13	0	2	rs150191653		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:24372736G>A	ENST00000005284.3	+	4	1702	c.500G>A	c.(499-501)cGt>cAt	p.R167H		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	167					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCGGGCAGCGTGACTCCAAA	0.443																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(499-501)cGt>cAt		calcium channel, voltage-dependent, gamma subunit 3		G	HIS/ARG	0,4394		0,0,2197	117	129	125		500	5	0.5	16	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNG3	NM_006539.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	167/316	24372736	1,12993	2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372736G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.500G>A	16.37:g.24372736G>A	ENSP00000005284:p.Arg167His						p.R167H	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1702	+			167						Missense_Mutation	SNP	ENST00000005284.3	37	c.500G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231936	0.58777	0.0	1.16E-4	ENSG00000006116	ENST00000005284	D	0.88896	-2.44	4.96	4.96	0.65561	.	0.044035	0.85682	D	0.000000	D	0.91050	0.7184	M	0.83953	2.67	0.42303	D	0.992188	P	0.46912	0.886	P	0.44897	0.463	D	0.92670	0.6149	10	0.59425	D	0.04	-7.0825	16.81	0.85717	0.0:0.0:1.0:0.0	.	167	O60359	CCG3_HUMAN	H	167	ENSP00000005284:R167H	ENSP00000005284:R167H	R	+	2	0	CACNG3	24280237	1.000000	0.71417	0.524000	0.27887	0.384000	0.30261	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGT		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		5	168	0	0	0	1	0	5	168					A	24372736	G	A	24372736	3	1	514	1	0	0	0	0	1	0	0	0	2558	1145	40	1	514	1	CACNG3	16	24372736	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		24372736	65982017	28	40659											
C16orf78	123970	broad.mit.edu	37	chr16	49433165	49433165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctaaaaaggtgttcacCggaatacccagcatggccct	10	11	1	0	rs369429905		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:49433165C>T	ENST00000299191.3	+	5	891	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	258						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGGTGTTCACCGGAATACCCA	0.522																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(772-774)acC>acT		chromosome 16 open reading frame 78							138	116	123					16																	49433165		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49433165C>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.774C>T	16.37:g.49433165C>T							p.T258T	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			5	891	+			258						Silent	SNP	ENST00000299191.3	37	c.774C>T	CCDS10738.1																																																																																				0.522	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		24	30	0	0	0	1	0	24	30					T	49433165	C	T	49433165	2	4	514	1	0	0	0	0	0	0	0	1	1835	639	23	1		1	C16orf78	16	49433165	Silent	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	25060429	49433165	40921588	29	40660											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	47	0	0	0	1	0	25	47					T	7578406	C	T	7578406	3	4	514	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		7578406	73616804	30	40661											
TP53	7157	broad.mit.edu	37	chr17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-													ttaccagaacgttgttttcaGgaagtctgaaagacaagagc					rs397516438		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)	GTTGTTTTCAGGAAGTCTGAA	0.617		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		15	Whole gene deletion(8)|Deletion - Frameshift(7)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(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						c.(79-81)ctfs	Other conserved DNA damage response genes	tumor protein p53							42	42	42					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579716delG	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.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs	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)				TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs	p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	212	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	27			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.80delC	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	37						37	37	---	---	---	---	-	7579716	G	-	7579716	7	5	514	1	0	1	0	1	0	0	0	0	16378	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-WY-A85C-01A-11D-A36O-08	1310	7579716	73615494	31	40662											
MYH13	8735	broad.mit.edu	37	chr17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggtctctgccatctggCggttggagtggcccagctga	15	11	3	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					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						TGCCATCTGGCGGTTGGAGTG	0.622																																						ENST00000418404.3																			0				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						c.(4912-4914)cGc>cAc		myosin, heavy chain 13, skeletal muscle							39	41	41					17																	10212891		2172	4289	6461	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212891C>T	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.4913G>A	17.37:g.10212891C>T	ENSP00000404570:p.Arg1638His					MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H	p.R1638H			Q9UKX3	MYH13_HUMAN			33	5076	-			1638					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4913G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342235	0.61073	.	.	ENSG00000006788	ENST00000252172	D	0.81908	-1.55	4.32	3.34	0.38264	Myosin tail (1);	.	.	.	.	D	0.84701	0.5530	M	0.85373	2.75	0.34937	D	0.749933	B	0.23128	0.08	B	0.27170	0.077	D	0.88884	0.3341	9	0.87932	D	0	.	13.0259	0.58814	0.0:0.9172:0.0:0.0827	.	1638	Q9UKX3	MYH13_HUMAN	H	1638	ENSP00000252172:R1638H	ENSP00000252172:R1638H	R	-	2	0	MYH13	10153616	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.841000	0.69409	2.396000	0.81511	0.563000	0.77884	CGC		0.622	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		11	22	0	0	0	1	0	11	22					T	10212891	C	T	10212891	3	4	514	1	0	0	0	0	1	0	0	0	10032	768	27	1	935	1	MYH13	17	10212891	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	2633175	10212891	70982319	32	40663											
ANKRD24	170961	broad.mit.edu	37	chr19	4222733	4222733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcagccggccgccctcGccacccctgaggtggaggct	15	16	0	1	rs376946018		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:4222733G>A	ENST00000600132.1	+	20	3514	c.3238G>A	c.(3238-3240)Gcc>Acc	p.A1080T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1080										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCGCCCTCGCCACCCCTGA	0.592																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3238-3240)Gcc>Acc		ankyrin repeat domain 24																																				SO:0001583	missense	170961							g.chr19:4222733G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3238G>A	19.37:g.4222733G>A	ENSP00000471252:p.Ala1080Thr					ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T	p.A1080T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	20	3514	+			1080					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3238G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	2.306	-0.359000	0.05138	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.30714	1.53;1.52	3.52	2.48	0.30137	.	.	.	.	.	T	0.13114	0.0318	N	0.12182	0.205	0.09310	N	1	B	0.30634	0.288	B	0.19148	0.024	T	0.20140	-1.0284	9	0.17369	T	0.5	.	6.5015	0.22172	0.1326:0.0:0.8674:0.0	.	1080	Q8TF21	ANR24_HUMAN	T	1080;1170	ENSP00000321731:A1080T;ENSP00000262970:A1170T	ENSP00000262970:A1170T	A	+	1	0	ANKRD24	4173733	0.006000	0.16342	0.003000	0.11579	0.109000	0.19521	1.528000	0.35985	1.046000	0.40249	0.306000	0.20318	GCC		0.592	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		4	16	0	0	0	1	0	4	16					A	4222733	G	A	4222733	3	1	514	1	0	0	0	0	1	0	0	0	653	1087	38	1	3312	1	ANKRD24	19	4222733	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		4222733	54906250	33	40664											
MUC16	94025	broad.mit.edu	37	chr19	9061576	9061576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgtggctaatatttcagCtgaggtgctgctcaaatttg	11	7	2	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:9061576C>A	ENST00000397910.4	-	3	26073	c.25870G>T	c.(25870-25872)Gct>Tct	p.A8624S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8626	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)				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						AATATTTCAGCTGAGGTGCTG	0.458																																						ENST00000397910.4																			0				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						c.(25870-25872)Gct>Tct		mucin 16, cell surface associated							141	132	135					19																	9061576		1957	4156	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061576C>A	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.25870G>T	19.37:g.9061576C>A	ENSP00000381008:p.Ala8624Ser						p.A8624S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26073	-			8626			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25870G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.307	-0.603145	0.03744	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	2.23	-4.46	0.03536	.	.	.	.	.	T	0.10937	0.0267	N	0.14661	0.345	.	.	.	B	0.06786	0.001	B	0.09377	0.004	T	0.21109	-1.0255	8	0.87932	D	0	.	0.2611	0.00218	0.2508:0.1594:0.2622:0.3275	.	8624	B5ME49	.	S	8624	ENSP00000381008:A8624S	ENSP00000381008:A8624S	A	-	1	0	MUC16	8922576	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.185000	0.00278	-2.981000	0.00283	-1.585000	0.00851	GCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	99	1	0	1.23904e-05	1	1.26485e-05	4	99					A	9061576	C	A	9061576	3	1	514	1	0	0	0	0	1	0	0	0	9973	797	28	4	17981	4	MUC16	19	9061576	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	4838843	9061576	50067407	34	40665											
CD79A	973	broad.mit.edu	37	chr19	42384999	42384999	+	Frame_Shift_Del	DEL	G	G	-													ggcctccagggcacctaccaGgatgtgggcagcctcaacat							TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:42384999delG	ENST00000221972.3	+	5	818	c.633delG	c.(631-633)cagfs	p.Q211fs	ARHGEF1_ENST00000354532.3_5'Flank|ARHGEF1_ENST00000347545.4_5'Flank|ARHGEF1_ENST00000599846.1_5'Flank|CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	211					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACCTACCAGGATGTGGGCA	0.627			"O, S"		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"O, S"	"CD79a molecule, immunoglobulin-associated alpha"			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(631-633)cafs		CD79a molecule, immunoglobulin-associated alpha							35	28	30					19																	42384999		2203	4300	6503	SO:0001589	frameshift_variant	0				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42384999delG	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.633delG	19.37:g.42384999delG	ENSP00000221972:p.Gln211fs					CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs	p.Q211fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			5	818	+			211					A0N775|Q53FB8	Frame_Shift_Del	DEL	ENST00000221972.3	37	c.633delG	CCDS12589.1																																																																																				0.627	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			2	4						2	4	---	---	---	---	-	42384999	G	-	42384999	7	5	514	1	0	1	0	1	0	0	0	0	3036	991	35	0	651	0	CD79A	19	42384999	Frame_Shift_Del	DEL	G	TCGA-WY-A85C-01A-11D-A36O-08	33323423	42384999	16743984	35	40666											
CBS	875	broad.mit.edu	37	chr21	44486353	44486353	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgggcctggcacccacCggtgttcccggatgtcggct	13	16	1	0	rs373782713		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:44486353C>T	ENST00000398165.3	-	5	710	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	CBS_ENST00000398158.1_Splice_Site_p.G151R|CBS_ENST00000359624.3_Splice_Site_p.G151R|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Splice_Site_p.G63R|CBS_ENST00000352178.5_Splice_Site_p.G151R|CBS_ENST00000398168.1_Splice_Site_p.G151R	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	151			G -> R (in CBSD).|Missing (in CBSD).		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)	TGGCACCCACCGGTGTTCCCG	0.687																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17	GRCh37	CM990336	CBS	M		c.e5+1		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	C	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	51	46	48		451,451,451	5.1	1	21		48	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	151/552,151/552,151/552	44486353	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44486353C>T	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.451+1G>A	21.37:g.44486353C>T						CBS_ENST00000398158.1_Splice_Site_p.G151_splice|CBS_ENST00000352178.5_Splice_Site_p.G151_splice|CBS_ENST00000359624.3_Splice_Site_p.G151_splice|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Splice_Site_p.G151_splice|CBS_ENST00000544202.1_Splice_Site_p.G63_splice	p.G151_splice	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			5	710	-			151		G -> R (in CBSD).|Missing (in CBSD).			B2R993|D3DSK4|Q99425|Q9BWC5	Splice_Site	SNP	ENST00000398165.3	37	c.451_splice	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983603	0.74474	0.0	1.16E-4	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202;ENST00000441030	D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	5.09	5.09	0.68999	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.053107	0.85682	D	0.000000	D	0.99880	0.9943	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96123	0.9086	9	.	.	.	-44.9146	16.34	0.83079	0.0:1.0:0.0:0.0	.	151;108	P35520;B7Z2D6	CBS_HUMAN;.	R	151;151;151;151;151;108;63;151	ENSP00000381225:G151R;ENSP00000381231:G151R;ENSP00000352643:G151R;ENSP00000344460:G151R;ENSP00000381234:G151R;ENSP00000439332:G63R;ENSP00000388235:G151R	.	G	-	1	0	CBS	43359422	1.000000	0.71417	0.999000	0.59377	0.045000	0.14185	6.620000	0.74224	2.360000	0.80028	0.555000	0.69702	GGG		0.687	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071	Missense_Mutation	4	68	0	0	0	1	0	4	68					T	44486353	C	T	44486353	5	4	514	1	0	0	0	0	0	0	1	0	2711	666	23	1	1256	1	CBS	21	44486353	Splice_Site	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		44486353	3643542	36	40667											
TBX22	50945	broad.mit.edu	37	chrX	79286146	79286146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcatacctgcccaatGtcaacctgcctctatgctac	7	15	2	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chrX:79286146G>A	ENST00000373294.5	+	8	1127	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I	TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I|TBX22_ENST00000442340.1_Missense_Mutation_p.V247I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	367					multicellular organismal development (GO:0007275)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGCCCAATGTCAACCTGCC	0.448																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(739-741)Gtc>Atc		T-box 22							166	148	154					X																	79286146		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286146G>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1099G>A	X.37:g.79286146G>A	ENSP00000362390:p.Val367Ile					TBX22_ENST00000373294.5_Missense_Mutation_p.V367I|TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I	p.V247I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			9	1229	+			367					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.739G>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.670032	0.00758	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.42	-2.89	0.05665	.	1.682920	0.04552	N	0.390094	T	0.50274	0.1606	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30504	-0.9976	10	0.27785	T	0.31	.	2.6827	0.05099	0.3238:0.1233:0.4161:0.1369	.	367	Q9Y458	TBX22_HUMAN	I	367;247;367;247	ENSP00000362393:V367I;ENSP00000396394:V247I;ENSP00000362390:V367I;ENSP00000362388:V247I	ENSP00000362388:V247I	V	+	1	0	TBX22	79172802	0.961000	0.32948	0.714000	0.30535	0.420000	0.31355	0.218000	0.17622	-0.234000	0.09782	-0.513000	0.04457	GTC		0.448	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		73	12	0	0	0	1	0	73	12					A	79286146	G	A	79286146	3	1	514	1	0	0	0	0	1	0	0	0	15655	1377	48	2	1129	2	TBX22	23	79286146	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		79286146	75984414	37	40668											
C1orf172	126695	broad.mit.edu	37	chr1	27277235	27277235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtctcctgggagatcTgcactgtcagctctagggag	13	11	4	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:27277235T>C	ENST00000320567.5	-	3	1140	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		351					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)		CTGGGAGATCTGCACTGTCAG	0.572																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1051-1053)cAg>cGg		chromosome 1 open reading frame 172							125	111	115					1																	27277235		2203	4300	6503	SO:0001583	missense	126695							g.chr1:27277235T>C																												ENST00000320567.5:c.1052A>G	1.37:g.27277235T>C	ENSP00000319179:p.Gln351Arg						p.Q351R	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		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)	3	1140	-		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)	351					Q5QP32|Q8N0S7	Missense_Mutation	SNP	ENST00000320567.5	37	c.1052A>G	CCDS293.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307316	0.60305	.	.	ENSG00000175707	ENST00000320567	T	0.30448	1.53	5.53	5.53	0.82687	.	0.068984	0.64402	D	0.000016	T	0.29556	0.0737	L	0.27053	0.805	0.39862	D	0.973396	P	0.46912	0.886	P	0.47573	0.55	T	0.05733	-1.0867	10	0.37606	T	0.19	.	14.2311	0.65892	0.0:0.0:0.0:1.0	.	351	Q8NAX2	CA172_HUMAN	R	351	ENSP00000319179:Q351R	ENSP00000319179:Q351R	Q	-	2	0	C1orf172	27149822	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.486000	0.66856	2.108000	0.64289	0.533000	0.62120	CAG		0.572	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			9	75	0	0	0	1	0	9	75					C	27277235	T	C	27277235	3	2	515	1	0	0	0	0	1	0	0	0	2013	1580	55	3	152	3	C1orf172	1	27277235	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		27277235	221973386	1	40669											
RIMKLA	284716	broad.mit.edu	37	chr1	42870214	42870214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttttcaaaaatgattgatGaagctgagcccctgggctac	9	9	1	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:42870214G>A	ENST00000431473.3	+	3	556	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	143	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				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						AATGATTGATGAAGCTGAGCC	0.567																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(427-429)Gaa>Aaa		ribosomal modification protein rimK-like family member A							82	81	82					1																	42870214		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42870214G>A	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.427G>A	1.37:g.42870214G>A	ENSP00000414330:p.Glu143Lys						p.E143K	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			3	556	+			143			ATP-grasp.		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.427G>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781022	0.70222	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.46	5.46	0.80206	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.052048	0.85682	D	0.000000	T	0.58264	0.2110	L	0.40543	1.245	0.58432	D	0.999993	P	0.42296	0.775	P	0.49140	0.601	T	0.50215	-0.8854	9	0.18276	T	0.48	-10.3555	16.8027	0.85618	0.0:0.0:1.0:0.0	.	143	Q8IXN7	RIMKA_HUMAN	K	19;143	.	ENSP00000387064:E19K	E	+	1	0	RIMKLA	42642801	1.000000	0.71417	0.996000	0.52242	0.507000	0.33981	8.916000	0.92745	2.567000	0.86603	0.491000	0.48974	GAA		0.567	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		29	46	0	0	0	1	0	29	46					A	42870214	G	A	42870214	3	1	515	1	0	0	0	0	1	0	0	0	13365	1291	45	2	437	2	RIMKLA	1	42870214	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	15592979	42870214	206380407	2	40670											
LRIG2	9860	broad.mit.edu	37	chr1	113657236	113657236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcatcattgtagatgcCgggctagaagatgctgggaa	12	8	2	3	rs189820116	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:113657236C>T	ENST00000361127.5	+	15	2466	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	756	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)		TTGTAGATGCCGGGCTAGAAG	0.473													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19764	0.001		0.0	False		,,,				2504	0.0					ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2266-2268)gcC>gcT		leucine-rich repeats and immunoglobulin-like domains 2							137	128	131					1																	113657236		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657236C>T	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.2268C>T	1.37:g.113657236C>T						LRIG2_ENST00000492207.1_3'UTR	p.A756A	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		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)	15	2466	+	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)	756			Ig-like C2-type 3.		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.2268C>T	CCDS30808.1																																																																																				0.473	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		4	144	0	0	0	1	0	4	144					T	113657236	C	T	113657236	2	4	515	1	0	0	0	0	0	0	0	1	8945	639	23	1		1	LRIG2	1	113657236	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	70787022	113657236	135593385	3	40671											
SPAG17	200162	broad.mit.edu	37	chr1	118640423	118640423	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttccaagtacttccagaaaGttttaagctcttttatggca	7	8	1	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:118640423G>C	ENST00000336338.5	-	7	946	c.881C>G	c.(880-882)aCt>aGt	p.T294S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	294						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)		CTTCCAGAAAGTTTTAAGCTC	0.328																																						ENST00000336338.5																			0				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						c.(880-882)aCt>aGt		sperm associated antigen 17							141	134	137					1																	118640423		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640423G>C		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.881C>G	1.37:g.118640423G>C	ENSP00000337804:p.Thr294Ser						p.T294S	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	946	-	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)	294					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.881C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	2.130	-0.399240	0.04865	.	.	ENSG00000155761	ENST00000336338	T	0.22945	1.93	5.3	-0.599	0.11645	.	0.859115	0.10475	N	0.670332	T	0.05456	0.0144	L	0.38175	1.15	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.39143	-0.9628	10	0.37606	T	0.19	.	2.238	0.04013	0.3352:0.1394:0.3891:0.1363	.	294	Q6Q759	SPG17_HUMAN	S	294	ENSP00000337804:T294S	ENSP00000337804:T294S	T	-	2	0	SPAG17	118441946	0.000000	0.05858	0.232000	0.24009	0.033000	0.12548	-0.066000	0.11598	-0.048000	0.13401	-0.355000	0.07637	ACT		0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		22	31	0	0	0	1	0	22	31					C	118640423	G	C	118640423	3	2	515	1	0	0	0	0	1	0	0	0	14979	1029	36	4	5958	4	SPAG17	1	118640423	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4983187	118640423	130610198	4	40672											
OR10R2	343406	broad.mit.edu	37	chr1	158450564	158450564	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtgacggtgacatacacGattgtcactccattactaaa	8	10	1	2	rs146808200		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:158450564G>A	ENST00000368152.1	+	1	897	c.897G>A	c.(895-897)acG>acA	p.T299T	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	299						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(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(895-897)acG>acA		olfactory receptor, family 10, subfamily R, member 2		G		0,4406		0,0,2203	142	123	130		897	-6.1	0	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10R2	NM_001004472.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		299/336	158450564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450564G>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.897G>A	1.37:g.158450564G>A						RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.T299T	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	897	+	all_hematologic(112;0.0378)		299					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.897G>A	CCDS30898.1																																																																																				0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		26	41	0	0	0	1	0	26	41					A	158450564	G	A	158450564	2	1	515	1	0	0	0	0	0	0	0	1	10917	1045	37	1		1	OR10R2	1	158450564	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	39810141	158450564	90800057	5	40673											
ZNF238	10472	broad.mit.edu	37	chr1	244218427	244218427	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagccctacacatgcaccCagtgcggcaagagcttccag	10	14	0	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:244218427C>T	ENST00000358704.4	+	2	1500	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*		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	442					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)										CACATGCACCCAGTGCGGCAA	0.627																																						ENST00000358704.4																			0											c.(1351-1353)Cag>Tag		zinc finger and BTB domain containing 18							62	63	63					1																	244218427		2203	4300	6503	SO:0001587	stop_gained	10472							g.chr1:244218427C>T	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.1351C>T	1.37:g.244218427C>T	ENSP00000351539:p.Gln451*						p.Q451*	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1500	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Nonsense_Mutation	SNP	ENST00000358704.4	37	c.1351C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895324	0.97074	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	.	.	.	5.68	5.68	0.88126	.	0.126303	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	X	451	.	ENSP00000351539:Q451X	Q	+	1	0	ZNF238	242285050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.897000	0.56273	2.702000	0.92279	0.655000	0.94253	CAG		0.627	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		4	81	0	0	0	1	0	4	81					T	244218427	C	T	244218427	4	4	515	1	0	0	0	0	0	1	0	0	17787	595	21	2	1357	2	ZNF238	1	244218427	Nonsense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	85767863	244218427	5032194	6	40674											
BCL11A	53335	broad.mit.edu	37	chr2	60687797	60687797	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agattgctacagttcttgaaGactttcccacagtactcaca	6	11	2	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:60687797G>T	ENST00000335712.6	-	4	2477	c.2250C>A	c.(2248-2250)gtC>gtA	p.V750V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	750					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)			AGTTCTTGAAGACTTTCCCAC	0.562			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				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						c.(2248-2250)gtC>gtA		B-cell CLL/lymphoma 11A (zinc finger protein)							119	123	122					2																	60687797		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687797G>T	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.2250C>A	2.37:g.60687797G>T						BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000477659.1_5'UTR	p.V750V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2477	-			750					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2250C>A	CCDS1862.1																																																																																				0.562	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		88	128	1	0	1.26458e-31	1	1.38502e-31	88	128					T	60687797	G	T	60687797	2	4	515	1	0	0	0	0	0	0	0	1	1363	929	33	4		4	BCL11A	2	60687797	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		60687797	182511576	7	40675											
B3GNT2	10678	broad.mit.edu	37	chr2	62449961	62449961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatatgctgaaatttgagagTgagaagcaccaagacattct	10	6	1	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:62449961T>A	ENST00000301998.4	+	2	858	c.606T>A	c.(604-606)agT>agA	p.S202R	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	202					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AATTTGAGAGTGAGAAGCACC	0.507																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(604-606)agT>agA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							65	61	62					2																	62449961		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449961T>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.606T>A	2.37:g.62449961T>A	ENSP00000305595:p.Ser202Arg					B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R	p.S202R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	858	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		202					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.606T>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338563	0.60963	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.44482	0.92;0.92	5.74	0.54	0.17163	.	0.224065	0.52532	D	0.000062	T	0.65026	0.2652	M	0.92923	3.36	0.58432	D	0.999993	D	0.62365	0.991	P	0.61275	0.886	T	0.69978	-0.4998	10	0.59425	D	0.04	.	10.9276	0.47199	0.0:0.3137:0.0:0.6863	.	202	Q9NY97	B3GN2_HUMAN	R	202	ENSP00000305595:S202R;ENSP00000384692:S202R	ENSP00000305595:S202R	S	+	3	2	B3GNT2	62303465	0.003000	0.15002	1.000000	0.80357	0.989000	0.77384	-0.042000	0.12063	0.103000	0.17682	0.528000	0.53228	AGT		0.507	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		30	68	0	0	0	1	0	30	68					A	62449961	T	A	62449961	3	1	515	1	0	0	0	0	1	0	0	0	1257	1693	59	5	608	5	B3GNT2	2	62449961	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	1762164	62449961	180749412	8	40676											
ANAPC1	64682	broad.mit.edu	37	chr2	112596041	112596041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccagtctcggaaggccTtgcttttttgggcgcaatga	12	9	1	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:112596041T>C	ENST00000341068.3	-	18	2861	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	697					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)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCGGAAGGCCTTGCTTTTTTG	0.343																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(2089-2091)Agg>Ggg		anaphase promoting complex subunit 1							52	55	54					2																	112596041		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112596041T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2089A>G	2.37:g.112596041T>C	ENSP00000339109:p.Arg697Gly						p.R697G	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			18	2861	-			697					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2089A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.13|19.13	3.768564|3.768564	0.69878|0.69878	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|T	.|0.51574	.|0.7	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.000000	.|0.47455	.|U	.|0.000223	T|T	0.50633|0.50633	0.1627|0.1627	M|M	0.82323|0.82323	2.585|2.585	0.51767|0.51767	D|D	0.99993|0.99993	.|B	.|0.25521	.|0.128	.|B	.|0.24848	.|0.056	T|T	0.54846|0.54846	-0.8232|-0.8232	5|10	.|0.49607	.|T	.|0.09	-4.199|-4.199	10.9179|10.9179	0.47148|0.47148	0.0:0.0:0.1571:0.8429|0.0:0.0:0.1571:0.8429	.|.	.|697	.|Q9H1A4	.|APC1_HUMAN	R|G	231|697	.|ENSP00000339109:R697G	.|ENSP00000339109:R697G	K|R	-|-	2|1	0|2	ANAPC1|ANAPC1	112312512|112312512	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.885000|2.885000	0.48570|0.48570	1.798000|1.798000	0.52647|0.52647	0.445000|0.445000	0.29226|0.29226	AAG|AGG		0.343	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		33	54	0	0	0	1	0	33	54					C	112596041	T	C	112596041	3	2	515	1	0	0	0	0	1	0	0	0	598	1608	56	3	3869	3	ANAPC1	2	112596041	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	50146080	112596041	130603332	9	40677											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	54	0	0	0	1	0	38	54					T	209113112	C	T	209113112	3	4	515	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	96517071	209113112	34086261	10	40678											
LGI2	55203	broad.mit.edu	37	chr4	25005383	25005383	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgttccacctcatgacccggGagtccccgatgaagcgggta	12	13	1	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:25005383G>C	ENST00000382114.4	-	8	1513	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	443						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CATGACCCGGGAGTCCCCGAT	0.532																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1327-1329)tCc>tGc		leucine-rich repeat LGI family, member 2							154	167	163					4																	25005383		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005383G>C	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1328C>G	4.37:g.25005383G>C	ENSP00000371548:p.Ser443Cys						p.S443C	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1513	-		Breast(46;0.173)	443					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1328C>G	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501100	0.85176	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	D	0.83914	-1.78	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91030	0.4863	10	0.87932	D	0	-27.9823	19.9944	0.97379	0.0:0.0:1.0:0.0	.	443	Q8N0V4	LGI2_HUMAN	C	443;91	ENSP00000371548:S443C	ENSP00000282970:S91C	S	-	2	0	LGI2	24614481	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.720000	0.93068	0.557000	0.71058	TCC		0.532	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			111	157	0	0	0	1	0	111	157					C	25005383	G	C	25005383	3	2	515	1	0	0	0	0	1	0	0	0	8752	1174	41	4	313	4	LGI2	4	25005383	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		25005383	166148893	11	40679											
EIF4E	1977	broad.mit.edu	37	chr4	99812468	99812468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttatcatttttaaaAaaccagagtgcccatctaaa	4	8	2	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:99812468A>C	ENST00000450253.2	-	3	1665	c.141T>G	c.(139-141)ttT>ttG	p.F47L	EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L|EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L|EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	47					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|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 mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CATTTTTAAAAAACCAgagtg	0.343																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(139-141)ttT>ttG		eukaryotic translation initiation factor 4E							43	43	43					4																	99812468		2202	4300	6502	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99812468A>C	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.141T>G	4.37:g.99812468A>C	ENSP00000389624:p.Phe47Leu					EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L|EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L|EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L	p.F47L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	3	1665	-			47					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.141T>G	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.137259|4.137259	0.77775|0.77775	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992|ENST00000511644	T;T;T;T|T	0.48201|0.47869	0.86;0.86;0.86;0.82|0.83	5.21|5.21	5.21|5.21	0.72293|0.72293	Translation Initiation factor eIF- 4e-like  domain (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.61489|0.61489	0.2351|0.2351	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.49307|.	0.922;0.84;0.734;0.492|.	P;P;P;P|.	0.60236|.	0.831;0.657;0.871;0.689|.	T|T	0.66634|0.66634	-0.5874|-0.5874	10|8	0.87932|0.87932	D|D	0|0	-32.756|-32.756	8.023|8.023	0.30421|0.30421	0.8465:0.0:0.1535:0.0|0.8465:0.0:0.1535:0.0	.|.	47;47;67;47|.	B7Z2T1;P06730-2;B7Z6V1;P06730|.	.;.;.;IF4E_HUMAN|.	L|V	47;67;75;47|44	ENSP00000389624:F47L;ENSP00000280892:F67L;ENSP00000423977:F75L;ENSP00000425561:F47L|ENSP00000421287:F44V	ENSP00000280892:F67L|ENSP00000421287:F44V	F|F	-|-	3|1	2|0	EIF4E|EIF4E	100031491|100031491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.576000|3.576000	0.53878|0.53878	2.082000|2.082000	0.62665|0.62665	0.455000|0.455000	0.32223|0.32223	TTT|TTT		0.343	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		30	33	0	0	0	1	0	30	33					C	99812468	A	C	99812468	3	2	515	1	0	0	0	0	1	0	0	0	5028	11	1	5	629	5	EIF4E	4	99812468	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08	74807085	99812468	91341808	12	40680											
FSTL5	56884	broad.mit.edu	37	chr4	162402315	162402315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcagctttgggacagaCttcatcctgtaatttaggaa	8	10	2	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:162402315C>T	ENST00000306100.5	-	13	1901	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I|FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	489						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)		TTGGGACAGACTTCATCCTGT	0.358																																						ENST00000306100.5																			0				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						c.(1465-1467)Gtc>Atc		follistatin-like 5							159	155	157					4																	162402315		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162402315C>T	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.1465G>A	4.37:g.162402315C>T	ENSP00000305334:p.Val489Ile					FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I|FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I	p.V489I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	1901	-	all_hematologic(180;0.24)		489					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1465G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670866	0.47781	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74421	-0.84;-0.83;-0.75;-0.83	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	L	0.33624	1.015	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.99	D;D;P	0.74674	0.978;0.984;0.782	T	0.75642	-0.3247	10	0.23891	T	0.37	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	479;488;489	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	489;488;479;488	ENSP00000305334:V489I;ENSP00000368462:V488I;ENSP00000389270:V479I;ENSP00000440409:V488I	ENSP00000305334:V489I	V	-	1	0	FSTL5	162621765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.255000	0.78338	2.566000	0.86566	0.650000	0.86243	GTC		0.358	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		59	100	0	0	0	1	0	59	100					T	162402315	C	T	162402315	3	4	515	1	0	0	0	0	1	0	0	0	6080	565	20	2	1094	2	FSTL5	4	162402315	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	62589847	162402315	28751961	13	40681											
TTC37	9652	broad.mit.edu	37	chr5	94805499	94805499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataccttgcccccattttgCgtttgaattgtaacaaagct	6	11	0	1	rs369648889		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr5:94805499C>T	ENST00000358746.2	-	41	4779	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1494						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCCCATTTTGCGTTTGAATTG	0.363																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(4480-4482)cGc>cAc		tetratricopeptide repeat domain 37		C	HIS/ARG	0,4406		0,0,2203	71	79	76		4481	4.2	0.9	5		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTC37	NM_014639.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1494/1565	94805499	1,13005	2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94805499C>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4481G>A	5.37:g.94805499C>T	ENSP00000351596:p.Arg1494His						p.R1494H	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			41	4779	-			1494					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.4481G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216759	0.22373	0.0	1.16E-4	ENSG00000198677	ENST00000358746	T	0.78595	-1.19	5.06	4.17	0.49024	.	0.384366	0.29253	N	0.012697	T	0.70072	0.3182	L	0.54323	1.7	0.26246	N	0.978793	P	0.44380	0.834	B	0.33750	0.169	T	0.64398	-0.6417	10	0.48119	T	0.1	.	14.6418	0.68732	0.1468:0.8532:0.0:0.0	.	1494	Q6PGP7	TTC37_HUMAN	H	1494	ENSP00000351596:R1494H	ENSP00000351596:R1494H	R	-	2	0	TTC37	94831255	1.000000	0.71417	0.923000	0.36655	0.067000	0.16453	1.681000	0.37618	1.085000	0.41206	0.484000	0.47621	CGC		0.363	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		32	73	0	0	0	1	0	32	73					T	94805499	C	T	94805499	3	4	515	1	0	0	0	0	1	0	0	0	16702	768	27	1	225	1	TTC37	5	94805499	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		94805499	86109761	14	40682											
DLK2	65989	broad.mit.edu	37	chr6	43418746	43418746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtcgtggacacggtccCgacagcgggcccctctctgg	14	15	1	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:43418746C>T	ENST00000357338.3	-	6	1383	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q|DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	228	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	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)			GACACGGTCCCGACAGCGGGC	0.627																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(682-684)cGg>cAg		delta-like 2 homolog (Drosophila)							58	62	61					6																	43418746		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418746C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.683G>A	6.37:g.43418746C>T	ENSP00000349893:p.Arg228Gln					DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q	p.R228Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1383	-	all_lung(25;0.00536)		228			EGF-like 6; calcium-binding (Potential).		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.683G>A	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.167884|4.167884	0.78339|0.78339	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.91631	.|-2.88;-2.88;-2.88;-2.88	4.94|4.94	4.94|4.94	0.65067|0.65067	.|EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.|0.441446	.|0.23575	.|N	.|0.046717	T|T	0.78528|0.78528	0.4297|0.4297	N|N	0.05510|0.05510	-0.035|-0.035	0.29794|0.29794	N|N	0.832952|0.832952	.|D	.|0.64830	.|0.994	.|P	.|0.52881	.|0.712	T|T	0.73288|0.73288	-0.4030|-0.4030	5|10	.|0.22109	.|T	.|0.4	.|.	6.7643|6.7643	0.23558|0.23558	0.0:0.775:0.0:0.225|0.0:0.775:0.0:0.225	.|.	.|228	.|Q6UY11	.|DLK2_HUMAN	R|Q	134|222;228;228;222	.|ENSP00000361563:R222Q;ENSP00000361566:R228Q;ENSP00000349893:R228Q;ENSP00000398906:R222Q	.|ENSP00000349893:R228Q	G|R	-|-	1|2	0|0	DLK2|DLK2	43526724|43526724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.634000|3.634000	0.54302|0.54302	2.454000|2.454000	0.82982|0.82982	0.462000|0.462000	0.41574|0.41574	GGG|CGG		0.627	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		31	68	0	0	0	1	0	31	68					T	43418746	C	T	43418746	3	4	515	1	0	0	0	0	1	0	0	0	4565	652	23	1	472	1	DLK2	6	43418746	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		43418746	127696321	15	40683											
GRIK2	2898	broad.mit.edu	37	chr6	101847197	101847197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtaatccagtcttcaggcGcaccgttaaactcctgctct	7	13	3	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:101847197G>A	ENST00000421544.1	+	1	534	c.44G>A	c.(43-45)cGc>cAc	p.R15H	GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R15H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	15					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCTTCAGGCGCACCGTTAAA	0.473																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(43-45)cGc>cAc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						171	155	160					6																	101847197		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:101847197G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.44G>A	6.37:g.101847197G>A	ENSP00000397026:p.Arg15His					GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R15H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H	p.R15H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	1	534	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	15					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.44G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498768	0.64298	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289	T;T;T;T;T;T	0.23552	2.77;2.72;2.66;1.9;2.98;2.72	5.02	5.02	0.67125	.	0.479715	0.20655	N	0.088140	T	0.07683	0.0193	N	0.14661	0.345	0.80722	D	1	P;B;P	0.41569	0.755;0.217;0.719	B;B;B	0.35727	0.209;0.002;0.136	T	0.19031	-1.0318	10	0.14656	T	0.56	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	15;15;15	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	15	ENSP00000397026:R15H;ENSP00000405596:R15H;ENSP00000358134:R15H;ENSP00000351128:R15H;ENSP00000358133:R15H;ENSP00000313276:R15H	ENSP00000313276:R15H	R	+	2	0	GRIK2	101953918	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.509000	0.53386	2.767000	0.95098	0.655000	0.94253	CGC		0.473	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			4	244	0	0	0	1	0	4	244					A	101847197	G	A	101847197	3	1	515	1	0	0	0	0	1	0	0	0	6774	1087	38	1	46	1	GRIK2	6	101847197	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	58428451	101847197	69267870	16	40684											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912849	111912849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccagtgtcaggagaagcCgctgaaagctgagataccag	14	9	1	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:111912849C>T	ENST00000340026.6	-	3	1062	c.468G>A	c.(466-468)gcG>gcA	p.A156A	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Silent_p.A147A|TRAF3IP2_ENST00000359831.4_Silent_p.A147A|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	156	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)		CAGGAGAAGCCGCTGAAAGCT	0.522																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(439-441)gcG>gcA		TRAF3 interacting protein 2							55	52	53					6																	111912849		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912849C>T	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.468G>A	6.37:g.111912849C>T						TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Silent_p.A156A|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.A147A	p.A147A	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	919	-		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)	156					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.441G>A																																																																																					0.522	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			8	88	0	0	0	1	0	8	88					T	111912849	C	T	111912849	2	4	515	1	0	0	0	0	0	0	0	1	16438	639	23	1		1	TRAF3IP2	6	111912849	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	10065652	111912849	59202218	17	40685											
GOPC	57120	broad.mit.edu	37	chr6	117894644	117894644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacatggcctggtggtgCttgcattggtcgtttcaagt	12	8	1	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:117894644C>T	ENST00000368498.2	-	5	877	c.802G>A	c.(802-804)Gca>Aca	p.A268T	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000535237.1_Missense_Mutation_p.A268T	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	268					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCTGGTGGTGCTTGCATTGGT	0.433			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(802-804)Gca>Aca		golgi-associated PDZ and coiled-coil motif containing							254	191	213					6																	117894644		2203	4300	6503	SO:0001583	missense	57120							g.chr6:117894644C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.802G>A	6.37:g.117894644C>T	ENSP00000357484:p.Ala268Thr					GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000368498.2_Missense_Mutation_p.A268T	p.A268T						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	5	1031	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.802G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555398	0.86231	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.15603	2.42;2.41;2.41	5.76	5.76	0.90799	PDZ/DHR/GLGF (1);	0.109676	0.64402	D	0.000005	T	0.08403	0.0209	L	0.29908	0.895	0.45762	D	0.998657	B;B;B	0.28233	0.077;0.204;0.096	B;B;B	0.24701	0.019;0.055;0.046	T	0.13602	-1.0503	10	0.31617	T	0.26	-8.1271	20.3242	0.98691	0.0:1.0:0.0:0.0	.	260;268;268	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	T	260;268;268	ENSP00000052569:A260T;ENSP00000357484:A268T;ENSP00000445690:A268T	ENSP00000052569:A260T	A	-	1	0	GOPC	118001337	1.000000	0.71417	0.624000	0.29186	0.981000	0.71138	5.158000	0.64917	2.882000	0.98803	0.655000	0.94253	GCA		0.433	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		4	122	0	0	0	1	0	4	122					T	117894644	C	T	117894644	3	4	515	1	0	0	0	0	1	0	0	0	6573	797	28	2	606	2	GOPC	6	117894644	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	5981795	117894644	53220423	18	40686											
LATS1	9113	broad.mit.edu	37	chr6	150005421	150005421	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttgagagtttggttcCcatgaagggggaggtggagt	17	3	0	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:150005421C>T	ENST00000543571.1	-	4	1351	c.804G>A	c.(802-804)tgG>tgA	p.W268*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*	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)		AGTTTGGTTCCCATGAAGGGG	0.547																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(802-804)tgG>tgA		large tumor suppressor kinase 1							183	177	179					6																	150005421		2203	4300	6503	SO:0001587	stop_gained	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005421C>T	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.804G>A	6.37:g.150005421C>T	ENSP00000437550:p.Trp268*					LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000542747.1_5'UTR	p.W268*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1351	-		Ovarian(120;0.0164)	268						Nonsense_Mutation	SNP	ENST00000543571.1	37	c.804G>A	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908654	0.92107	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	.	.	.	4.83	4.83	0.62350	.	0.000000	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8958	0.88887	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	.	W	-	3	0	LATS1	150047114	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.221000	0.72209	0.655000	0.94253	TGG		0.547	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		70	98	0	0	0	1	0	70	98					T	150005421	C	T	150005421	4	4	515	1	0	0	0	0	0	1	0	0	8646	624	22	2	2608	2	LATS1	6	150005421	Nonsense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	32110777	150005421	21109646	19	40687											
ABCB5	340273	broad.mit.edu	37	chr7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctttggagaatataCgtactatagtgtcattaaca	8	6	1	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	885	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						GGAGAATATACGTACTATAGT	0.323																																						ENST00000404938.2																			0				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						c.(2653-2655)Cgt>Tgt		ATP-binding cassette, sub-family B (MDR/TAP), member 5							95	100	99					7																	20766690		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20766690C>T	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.2653C>T	7.37:g.20766690C>T	ENSP00000384881:p.Arg885Cys					ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	p.R885C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			22	3305	+			440					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2653C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630084	0.67015	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91996	-2.95;-2.95	4.54	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000013	D	0.96839	0.8968	H	0.95114	3.625	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97146	0.9828	10	0.87932	D	0	.	11.2028	0.48751	0.0:0.9093:0.0:0.0907	.	885;63;440	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	C	885;440	ENSP00000384881:R885C;ENSP00000258738:R440C	ENSP00000258738:R440C	R	+	1	0	ABCB5	20733215	0.980000	0.34600	0.997000	0.53966	0.992000	0.81027	1.176000	0.31957	1.510000	0.48803	0.655000	0.94253	CGT		0.323	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	49	0	0	0	1	0	5	49					T	20766690	C	T	20766690	3	4	515	1	0	0	0	0	1	0	0	0	44	536	19	1	2776	1	ABCB5	7	20766690	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		20766690	138371973	20	40688											
VPS13A	23230	broad.mit.edu	37	chr9	79959998	79959998	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atttttagattatcatgatgGagcagctacattcctcttaa	6	7	2	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr9:79959998G>C	ENST00000360280.3	+	52	7489	c.7229G>C	c.(7228-7230)gGa>gCa	p.G2410A	VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A|VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2410					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						TATCATGATGGAGCAGCTACA	0.318																																						ENST00000360280.3																			0				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						c.(7228-7230)gGa>gCa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							153	152	152					9																	79959998		2202	4299	6501	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79959998G>C	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.7229G>C	9.37:g.79959998G>C	ENSP00000353422:p.Gly2410Ala					VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A	p.G2410A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			52	7489	+			2410					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7229G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568462	0.86439	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.4	5.4	0.78164	Vacuolar protein sorting-associated protein (1);	0.134405	0.48767	D	0.000170	T	0.55337	0.1914	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.999	D;D;D;D	0.71870	0.974;0.966;0.975;0.975	T	0.49113	-0.8973	10	0.22706	T	0.39	.	18.7833	0.91944	0.0:0.0:1.0:0.0	.	2371;2410;2410;2410	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	A	2410;2371;2410;2410	ENSP00000365821:G2410A;ENSP00000365823:G2371A;ENSP00000353422:G2410A;ENSP00000349985:G2410A	ENSP00000349985:G2410A	G	+	2	0	VPS13A	79149818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.325000	0.96381	2.534000	0.85438	0.585000	0.79938	GGA		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		15	108	0	0	0	1	0	15	108					C	79959998	G	C	79959998	3	2	515	1	0	0	0	0	1	0	0	0	17186	1174	41	4	7435	4	VPS13A	9	79959998	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		79959998	61253433	21	40689											
GATA3	2625	broad.mit.edu	37	chr10	8115720	8115720	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattaacagacccctgactAtgaagaaggaaggcatccag	10	9	0	5			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr10:8115720A>G	ENST00000346208.3	+	6	1521	c.1066A>G	c.(1066-1068)Atg>Gtg	p.M356V	GATA3_ENST00000379328.3_Missense_Mutation_p.M357V|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	356					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCCCTGACTATGAAGAAGGA	0.403			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																															ENST00000379328.3				Rec	yes		10	10p15	2625	"F, N, S"	GATA binding protein 3	yes	"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"	E			breast		1	Deletion - Frameshift(1)	p.M357fs*14(1)	breast(1)	NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(1069-1071)Atg>Gtg		GATA binding protein 3							44	47	46					10																	8115720		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115720A>G	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1066A>G	10.37:g.8115720A>G	ENSP00000341619:p.Met356Val					GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.M356V	p.M357V	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			6	1637	+			356					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1069A>G	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958546	0.53400	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99652	-6.3;-6.3	4.98	4.98	0.66077	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.083165	0.85682	D	0.000000	D	0.99527	0.9831	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.67725	0.928;0.953	D	0.98145	1.0438	10	0.87932	D	0	-17.9353	14.7009	0.69154	1.0:0.0:0.0:0.0	.	356;357	P23771;P23771-2	GATA3_HUMAN;.	V	357;356	ENSP00000368632:M357V;ENSP00000341619:M356V	ENSP00000341619:M356V	M	+	1	0	GATA3	8155726	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	9.339000	0.96797	1.870000	0.54199	0.379000	0.24179	ATG		0.403	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		8	35	0	0	0	1	0	8	35					G	8115720	A	G	8115720	3	3	515	1	0	0	0	0	1	0	0	0	6255	449	16	3	1087	3	GATA3	10	8115720	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		8115720	127419027	22	40690											
KIAA0913	23053	broad.mit.edu	37	chr10	75557164	75557165	+	Frame_Shift_Ins	INS	-	-	A													cattgacagcagtgcccctgINSaaacaacatcggatagttcc							TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr10:75557164_75557165insA	ENST00000605216.1	+	18	3665_3666	c.3448_3449insA	c.(3448-3450)gaafs	p.E1150fs	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.E1155fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.E1155fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.E1117fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.E1150fs|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1150	Ser-rich.						zinc ion binding (GO:0008270)										CAGTGCCCCTGAAACAACATCG	0.559																																						ENST00000604729.1																			0											c.(3463-3465)aacfs		zinc finger, SWIM-type containing 8																																				SO:0001589	frameshift_variant	23053							g.chr10:75557164_75557165insA	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.3451dupA	10.37:g.75557167_75557167dupA	ENSP00000474748:p.Glu1150fs					ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.N1150fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.N1150fs|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.N1117fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.N1155fs	p.N1155fs							18	3760_3761	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.3463_3464insA																																																																																					0.559	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		40	38						40	38	---	---	---	---	A	75557165	-	A	75557164	7	5	515	1	0	1	1	0	0	0	0	0	8200	1291	45	0	3533	0	KIAA0913	10	75557164	Frame_Shift_Ins	INS	-	TCGA-WY-A85D-01A-11D-A36O-08	67441444	75557164	59977583	23	40691											
OR4P4	81300	broad.mit.edu	37	chr11	55405900	55405900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaataagaacattgaaGtcctctgctttgtattattt	5	8	1	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:55405900G>A	ENST00000314612.2	+	1	67	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	23						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAACATTGAAGTCCTCTGCTT	0.363																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(67-69)Gtc>Atc		olfactory receptor, family 4, subfamily P, member 4							123	116	118					11																	55405900		2181	4026	6207	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405900G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.67G>A	11.37:g.55405900G>A	ENSP00000324831:p.Val23Ile						p.V23I	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	67	+			23						Missense_Mutation	SNP	ENST00000314612.2	37	c.67G>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.954346	0.00470	.	.	ENSG00000181927	ENST00000314612	T	0.00285	8.3	5.02	-3.34	0.04943	.	3.684390	0.01134	N	0.006044	T	0.00109	0.0003	N	0.02334	-0.595	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43163	-0.9408	10	0.52906	T	0.07	-0.014	0.6412	0.00810	0.3697:0.1236:0.2666:0.2401	.	23	Q8NGL7	OR4P4_HUMAN	I	23	ENSP00000324831:V23I	ENSP00000324831:V23I	V	+	1	0	OR4P4	55162476	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.740000	0.01839	-1.000000	0.03438	-1.563000	0.00883	GTC		0.363	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		56	100	0	0	0	1	0	56	100					A	55405900	G	A	55405900	3	1	515	1	0	0	0	0	1	0	0	0	11080	1029	36	2	69	2	OR4P4	11	55405900	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		55405900	79600616	24	40692											
SPRYD5	84767	broad.mit.edu	37	chr11	55658975	55658975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagacctaccagcacagTaggattattcctggattgtg	9	10	0	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:55658975T>C	ENST00000449290.2	+	7	1318	c.1226T>C	c.(1225-1227)gTa>gCa	p.V409A	TRIM51_ENST00000244891.3_Missense_Mutation_p.V266A	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	409	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ACCAGCACAGTAGGATTATTC	0.463																																						ENST00000449290.2																			0											c.(1225-1227)gTa>gCa		tripartite motif-containing 51							65	62	63					11																	55658975		2164	4208	6372	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658975T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1226T>C	11.37:g.55658975T>C	ENSP00000395086:p.Val409Ala					TRIM51_ENST00000244891.3_Missense_Mutation_p.V266A	p.V409A	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1318	+			409			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1226T>C		.	.	.	.	.	.	.	.	.	.	.	14.28	2.488677	0.44249	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.75589	-0.95;-0.95	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.84392	0.5462	M	0.86343	2.81	0.23298	N	0.997957	D	0.76494	0.999	D	0.73380	0.98	T	0.70784	-0.4778	9	0.87932	D	0	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	409	Q9BSJ1	SPRY5_HUMAN	A	409;266	ENSP00000395086:V409A;ENSP00000244891:V266A	ENSP00000244891:V266A	V	+	2	0	SPRYD5	55415551	0.904000	0.30761	0.006000	0.13384	0.073000	0.16967	2.963000	0.49184	0.540000	0.28808	0.136000	0.15936	GTA		0.463	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		48	70	0	0	0	1	0	48	70					C	55658975	T	C	55658975	3	2	515	1	0	0	0	0	1	0	0	0	15110	1638	57	3	1248	3	SPRYD5	11	55658975	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	253075	55658975	79347541	25	40693											
OR8K3	219473	broad.mit.edu	37	chr11	56086694	56086694	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tatgccctacgaaggacatgGaataacttatgtaatatttt	7	6	0	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:56086694G>C	ENST00000312711.1	+	1	912	c.912G>C	c.(910-912)tgG>tgC	p.W304C		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	304						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)					GAAGGACATGGAATAACTTAT	0.328																																						ENST00000312711.1																			0				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						c.(910-912)tgG>tgC		olfactory receptor, family 8, subfamily K, member 3							41	39	40					11																	56086694		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086694G>C	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	ENST00000312711.1:c.912G>C	11.37:g.56086694G>C	ENSP00000323555:p.Trp304Cys						p.W304C	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	912	+	Esophageal squamous(21;0.00448)		304					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.912G>C	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	4.608	0.113032	0.08831	.	.	ENSG00000181689	ENST00000312711	T	0.36878	1.23	4.16	1.16	0.20824	.	1.376610	0.04841	N	0.440574	T	0.23133	0.0559	N	0.21282	0.65	0.09310	N	0.999994	B	0.12630	0.006	B	0.15870	0.014	T	0.32322	-0.9911	10	0.62326	D	0.03	.	0.7385	0.00970	0.1928:0.1567:0.3283:0.3221	.	304	Q8NH51	OR8K3_HUMAN	C	304	ENSP00000323555:W304C	ENSP00000323555:W304C	W	+	3	0	OR8K3	55843270	0.005000	0.15991	0.038000	0.18304	0.001000	0.01503	0.172000	0.16704	0.486000	0.27676	-0.553000	0.04205	TGG		0.328	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		16	39	0	0	0	1	0	16	39					C	56086694	G	C	56086694	3	2	515	1	0	0	0	0	1	0	0	0	11244	1183	41	4	914	4	OR8K3	11	56086694	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	427719	56086694	78919822	26	40694											
GLYAT	10249	broad.mit.edu	37	chr11	58480360	58480360	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggtcatctgtcatatcCtgttatcattaggaaaaagg	8	7	5	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:58480360C>A	ENST00000344743.3	-	4	331		c.e4-1		GLYAT_ENST00000278400.3_Splice_Site|GLYAT_ENST00000529732.1_Splice_Site	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTGTCATATCCTGTTATCATT	0.303																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.e4-1		glycine-N-acyltransferase	Glycine(DB00145)						145	137	140					11																	58480360		2201	4295	6496	SO:0001630	splice_region_variant	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58480360C>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.190-1G>T	11.37:g.58480360C>A						GLYAT_ENST00000278400.3_Splice_Site|GLYAT_ENST00000529732.1_Splice_Site		NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			4	331	-		Breast(21;0.0044)|all_epithelial(135;0.0157)						O14833|Q96QK7	Splice_Site	SNP	ENST00000344743.3	37		CCDS7970.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469871	0.63625	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0453	0.71822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLYAT	58236936	1.000000	0.71417	0.853000	0.33588	0.902000	0.53008	3.836000	0.55813	2.685000	0.91497	0.585000	0.79938	.		0.303	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1		Intron	13	54	1	0	5.50884e-06	1	5.75924e-06	13	54					A	58480360	C	A	58480360	5	1	515	1	0	0	0	0	0	0	1	0	6479	695	24	4	717	4	GLYAT	11	58480360	Splice_Site	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	2393666	58480360	76526156	27	40695											
TMPO	7112	broad.mit.edu	37	chr12	98927085	98927085	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccatatttcagatcaAtcgcctctctccagtaaaag	6	12	3	1	rs147812883		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:98927085A>G	ENST00000556029.1	+	3	921				TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Silent_p.Q350Q|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							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						TTTCAGATCAATCGCCTCTCT	0.418													A|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.0		0.001	False		,,,				2504	0.0					ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1048-1050)caA>caG		thymopoietin		A	,,	1,4405	2.1+/-5.4	0,1,2202	64	69	67		,,1050	-0.9	0.5	12	dbSNP_134	67	3,8597	3.0+/-9.4	0,3,4297	no	intron,intron,coding-synonymous	TMPO	NM_001032283.2,NM_001032284.2,NM_003276.2	,,	0,4,6499	GG,GA,AA		0.0349,0.0227,0.0308	,,	,,350/695	98927085	4,13002	2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927085A>G		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.565+1469A>G	12.37:g.98927085A>G						TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron	p.Q350Q	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1288	+			256			Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1050A>G	CCDS31879.1																																																																																				0.418	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		6	87	0	0	0	1	0	6	87					G	98927085	A	G	98927085	1	3	515	0	1	0	0	0	0	0	0	0	16234	98	4	3		3	TMPO	12	98927085	Intron	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		98927085	34924810	28	40696											
DDX54	79039	broad.mit.edu	37	chr12	113599733	113599733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctgatgtagcggccGctctctgtcttaatcttctt	10	11	4	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113599733G>A	ENST00000306014.5	-	18	2292	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Silent_p.S755S	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	755					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)	p.S755R(1)		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						TGTAGCGGCCGCTCTCTGTCT	0.592																																						ENST00000314045.7																			1	Substitution - Missense(1)	p.S755R(1)	ovary(1)	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						c.(2263-2265)agC>agT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							170	151	158					12																	113599733		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599733G>A	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.2265C>T	12.37:g.113599733G>A						DDX54_ENST00000306014.5_Silent_p.S755S	p.S755S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			18	2292	-			755					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.2265C>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	7.927	0.739895	0.15642	.	.	ENSG00000123064	ENST00000546898	.	.	.	4.74	-4.11	0.03928	.	.	.	.	.	T	0.62998	0.2474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62690	-0.6801	4	.	.	.	.	14.0485	0.64719	0.4385:0.0:0.5615:0.0	.	.	.	.	W	158	.	.	R	-	1	2	DDX54	112084116	0.128000	0.22383	0.974000	0.42286	0.508000	0.34012	-0.377000	0.07456	-0.746000	0.04766	-1.564000	0.00881	CGG		0.592	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		4	219	0	0	0	1	0	4	219					A	113599733	G	A	113599733	2	1	515	1	0	0	0	0	0	0	0	1	4372	1078	38	1		1	DDX54	12	113599733	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	14672648	113599733	20252162	29	40697											
LHX5	64211	broad.mit.edu	37	chr12	113901233	113901233	+	Frame_Shift_Del	DEL	C	C	-													cgagcggcggttccagcgctCccagcggcgtcgagccgggg							TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113901233delC	ENST00000261731.3	-	5	1544	c.971delG	c.(970-972)ggafs	p.G324fs		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	324					cell proliferation in forebrain (GO:0021846)|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)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TTCCAGCGCTCCCAGCGGCGT	0.731																																						ENST00000261731.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						c.(970-972)gafs		LIM homeobox 5							7	10	9					12																	113901233		2034	3977	6011	SO:0001589	frameshift_variant	64211					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:113901233delC	AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"Homeoboxes / LIM class"	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.971delG	12.37:g.113901233delC	ENSP00000261731:p.Gly324fs						p.G324fs	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN			5	1544	-			324					Q32MA4	Frame_Shift_Del	DEL	ENST00000261731.3	37	c.971delG	CCDS9171.1																																																																																				0.731	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	NM_022363		2	4						2	4	---	---	---	---	-	113901233	C	-	113901233	7	5	515	1	0	1	0	1	0	0	0	0	8774	855	30	0	241	0	LHX5	12	113901233	Frame_Shift_Del	DEL	C	TCGA-WY-A85D-01A-11D-A36O-08	301500	113901233	19950662	30	40698											
POLE	5426	broad.mit.edu	37	chr12	133220429	133220429	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggctggggagtcacctgagtCtcatatacgccctcgatgtc	12	12	2	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:133220429C>G	ENST00000320574.5	-	33	4327	c.4284G>C	c.(4282-4284)gaG>gaC	p.E1428D	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1401D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1428					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCACCTGAGTCTCATATACGC	0.567								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4282-4284)gaG>gaC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							141	122	129					12																	133220429		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220429C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4284G>C	12.37:g.133220429C>G	ENSP00000322570:p.Glu1428Asp					POLE_ENST00000535270.1_Missense_Mutation_p.E1401D	p.E1428D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	33	4327	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1428					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4284G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274745	0.59649	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.20881	2.04;2.04;2.04	5.63	3.78	0.43462	.	0.131869	0.64402	D	0.000002	T	0.50274	0.1606	M	0.91090	3.175	0.50039	D	0.999849	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.968	T	0.57723	-0.7762	10	0.87932	D	0	.	8.8084	0.34952	0.0:0.7743:0.0:0.2257	.	1401;1428	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1428;1439;1401	ENSP00000322570:E1428D;ENSP00000406383:E1439D;ENSP00000445753:E1401D	ENSP00000322570:E1428D	E	-	3	2	POLE	131730502	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	1.586000	0.36611	1.523000	0.49018	0.650000	0.86243	GAG		0.567	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	49	0	0	0	1	0	13	49					G	133220429	C	G	133220429	3	3	515	1	0	0	0	0	1	0	0	0	12196	912	32	4	2644	4	POLE	12	133220429	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	19319196	133220429	631466	31	40699											
SYNE2	23224	broad.mit.edu	37	chr14	64656884	64656884	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaacaaatcaagagcAgctgagatcgatgacaagct	10	10	1	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr14:64656884A>T	ENST00000344113.4	+	99	18179	c.17967A>T	c.(17965-17967)gcA>gcT	p.A5989A	SYNE2_ENST00000358025.3_Silent_p.A5989A|SYNE2_ENST00000554584.1_Silent_p.A5852A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.A2623A|SYNE2_ENST00000357395.3_Silent_p.A2374A|SYNE2_ENST00000394768.2_Silent_p.A2374A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5989					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)		AATCAAGAGCAGCTGAGATCG	0.398																																						ENST00000357395.3																			0				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						c.(7120-7122)gcA>gcT		spectrin repeat containing, nuclear envelope 2							137	117	124					14																	64656884		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64656884A>T	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.17967A>T	14.37:g.64656884A>T						SYNE2_ENST00000554584.1_Silent_p.A5852A|SYNE2_ENST00000555002.1_Silent_p.A2623A|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.A2374A|SYNE2_ENST00000344113.4_Silent_p.A5989A|SYNE2_ENST00000358025.3_Silent_p.A5989A	p.A2374A			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	100	18266	+			5989					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.7122A>T	CCDS41963.1																																																																																				0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		30	56	0	0	0	1	0	30	56					T	64656884	A	T	64656884	2	4	515	1	0	0	0	0	0	0	0	1	15443	175	7	5		5	SYNE2	14	64656884	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		64656884	42692656	32	40700											
MEIS2	4212	broad.mit.edu	37	chr15	37329146	37329146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggtgaagctacactgtTgtctaaaccatcccctagta	7	12	1	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:37329146T>G	ENST00000561208.1	-	8	1187	c.769A>C	c.(769-771)Aac>Cac	p.N257H	MEIS2_ENST00000338564.5_Missense_Mutation_p.N257H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H			O14770	MEIS2_HUMAN	Meis homeobox 2	257	Asp/Glu-rich (acidic).				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)		GCTACACTGTTGTCTAAACCA	0.408																																						ENST00000338564.5																			0				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						c.(769-771)Aac>Cac		Meis homeobox 2							144	128	133					15																	37329146		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37329146T>G	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.769A>C	15.37:g.37329146T>G	ENSP00000453793:p.Asn257His					MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000561208.1_Missense_Mutation_p.N257H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H	p.N257H	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	9	1215	-		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)	257			Asp/Glu-rich (acidic).		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.769A>C	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634153	0.29068	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;D;D;D;D;D;D;D	0.89270	1.88;-2.22;-2.22;-2.14;-2.2;-2.2;-2.19;-2.49	5.14	5.14	0.70334	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	L	0.50333	1.59	0.80722	D	1	B;B;D;B;P;B;B;B	0.63046	0.01;0.088;0.992;0.008;0.928;0.021;0.024;0.002	B;B;P;B;P;B;B;B	0.61328	0.019;0.2;0.887;0.028;0.641;0.019;0.026;0.005	D	0.92492	0.6001	10	0.66056	D	0.02	-0.027	15.2495	0.73532	0.0:0.0:0.0:1.0	.	244;257;257;257;257;111;169;244	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	H	257;257;257;257;257;244;244;169;111	ENSP00000326296:N257H;ENSP00000341400:N257H;ENSP00000372216:N257H;ENSP00000404185:N257H;ENSP00000391887:N257H;ENSP00000339549:N244H;ENSP00000380745:N169H;ENSP00000219869:N111H	ENSP00000219869:N111H	N	-	1	0	MEIS2	35116438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.068000	0.61886	0.528000	0.53228	AAC		0.408	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		57	80	0	0	0	1	0	57	80					G	37329146	T	G	37329146	3	3	515	1	0	0	0	0	1	0	0	0	9468	1812	63	5	747	5	MEIS2	15	37329146	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		37329146	65202246	33	40701											
PRSS21	10942	broad.mit.edu	37	chr16	2871093	2871093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggcaatgcccaaggcGggaaggatgcctgcttcgtg	16	10	0	0	rs373819301		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:2871093G>A	ENST00000005995.3	+	5	730	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000455114.1_Missense_Mutation_p.G228R|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGCCCAAGGCGGGAAGGATGC	0.542																																						ENST00000455114.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						c.(682-684)Ggg>Agg		protease, serine, 21 (testisin)		G	ARG/GLY,ARG/GLY,	1,4395	2.1+/-5.4	0,1,2197	258	229	239		688,682,	0.4	0	16		239	0,8600		0,0,4300	no	missense,missense,intron	PRSS21	NM_006799.2,NM_144956.1,NM_144957.1	125,125,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,	230/315,228/313,	2871093	1,12995	2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871093G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.688G>A	16.37:g.2871093G>A	ENSP00000005995:p.Gly230Arg					PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R	p.G228R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN			5	788	+			230			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.682G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	7.367	0.626000	0.14257	2.27E-4	0.0	ENSG00000007038	ENST00000455114;ENST00000005995	D;D	0.90133	-2.62;-2.62	4.14	0.42	0.16444	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86322	0.5905	L	0.55103	1.725	0.09310	N	1	P;B	0.50710	0.938;0.171	B;B	0.42798	0.398;0.035	T	0.76280	-0.3017	9	0.44086	T	0.13	.	6.7545	0.23505	0.5373:0.0:0.4627:0.0	.	230;228	Q9Y6M0;Q9Y6M0-2	TEST_HUMAN;.	R	228;230	ENSP00000400632:G228R;ENSP00000005995:G230R	ENSP00000005995:G230R	G	+	1	0	PRSS21	2811094	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.700000	0.05081	0.220000	0.20860	0.567000	0.79289	GGG		0.542	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799		88	142	0	0	0	1	0	88	142					A	2871093	G	A	2871093	3	1	515	1	0	0	0	0	1	0	0	0	12618	1116	39	1	706	1	PRSS21	16	2871093	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		2871093	87483660	34	40702											
CDH16	1014	broad.mit.edu	37	chr16	66945164	66945164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgggcggtgtgcacctcCccggagaatttctcaatgca	12	12	1	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:66945164C>T	ENST00000299752.4	-	14	2038	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	CDH16_ENST00000570262.1_Silent_p.G535G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	615	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGTGCACCTCCCCGGAGAATT	0.602																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1843-1845)ggG>ggA		cadherin 16, KSP-cadherin							41	39	40					16																	66945164		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945164C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1845G>A	16.37:g.66945164C>T						CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G|CDH16_ENST00000570262.1_Silent_p.G535G	p.G615G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	14	2038	-		Ovarian(137;0.0563)	615			Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1845G>A	CCDS10823.1																																																																																				0.602	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		12	15	0	0	0	1	0	12	15					T	66945164	C	T	66945164	2	4	515	1	0	0	0	0	0	0	0	1	3101	610	22	2		2	CDH16	16	66945164	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	64074071	66945164	23409589	35	40703											
CNTNAP4	85445	broad.mit.edu	37	chr16	76389360	76389360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctacctcctgatgttcagTgatagtggctggaactggaa	12	8	1	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:76389360T>C	ENST00000476707.1	+	2	490	c.351T>C	c.(349-351)agT>agC	p.S117S	CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.S113S|CNTNAP4_ENST00000478060.1_Silent_p.S89S			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	114	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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						TGATGTTCAGTGATAGTGGCT	0.478																																						ENST00000307431.8																			0				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						c.(337-339)agT>agC		contactin associated protein-like 4							100	92	95					16																	76389360		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389360T>C	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.351T>C	16.37:g.76389360T>C						CNTNAP4_ENST00000478060.1_Silent_p.S89S|CNTNAP4_ENST00000476707.1_Silent_p.S117S|CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000469589.1_3'UTR	p.S113S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			4	724	+			114			F5/8 type C.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.339T>C																																																																																					0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		46	67	0	0	0	1	0	46	67					C	76389360	T	C	76389360	2	2	515	1	0	0	0	0	0	0	0	1	3649	1693	59	3		3	CNTNAP4	16	76389360	Silent	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	9444196	76389360	13965393	36	40704											
TP53	7157	broad.mit.edu	37	chr17	7577108	7577108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccggtctctcccaggaCaggcacaaacacgcacctca	9	17	2	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7577108C>T	ENST00000269305.4	-	8	1019	c.830G>A	c.(829-831)tGt>tAt	p.C277Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000420246.2_Missense_Mutation_p.C277Y|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; 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.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(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)	TCTCCCAGGACAGGCACAAAC	0.547		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		61	Substitution - Missense(40)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Unknown(2)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(11)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|bone(6)|upper_aerodigestive_tract(5)|oesophagus(5)|stomach(4)|urinary_tract(4)|central_nervous_system(3)|skin(2)|cervix(1)|peritoneum(1)|large_intestine(1)|ovary(1)|prostate(1)|liver(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						c.(829-831)tGt>tAt	Other conserved DNA damage response genes	tumor protein p53							72	62	66					17																	7577108		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577108C>T	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.830G>A	17.37:g.7577108C>T	ENSP00000269305:p.Cys277Tyr	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)				TP53_ENST00000269305.4_Missense_Mutation_p.C277Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y	p.C277Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	962	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	ENST00000269305.4	37	c.830G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273787	0.80580	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	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);	0.044315	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91872	3.25	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.91635	0.982;0.999;0.99;0.986	D	0.96422	0.9312	10	0.87932	D	0	-10.0792	16.1198	0.81342	0.0:1.0:0.0:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	277;277;277;277;277;266;145	ENSP00000352610:C277Y;ENSP00000269305:C277Y;ENSP00000398846:C277Y;ENSP00000391127:C277Y;ENSP00000391478:C277Y;ENSP00000425104:C145Y	ENSP00000269305:C277Y	C	-	2	0	TP53	7517833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.667000	0.90743	0.462000	0.41574	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	14	0	0	0	1	0	12	14					T	7577108	C	T	7577108	3	4	515	1	0	0	0	0	1	0	0	0	16378	478	17	2	456	2	TP53	17	7577108	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		7577108	73618102	37	40705											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	12	13	1	0	rs587781288		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7578508C>T	ENST00000269305.4	-	5	611	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000420246.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in 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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)	CTGCACAGGGCAGGTCTTGGC	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(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	GRCh37	CM993216	TP53	M		c.(421-423)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							56	55	55					17																	7578508		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578508C>T	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.422G>A	17.37:g.7578508C>T	ENSP00000269305:p.Cys141Tyr	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)				TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y	p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	554	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.422G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720132	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99832	0.9924	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.987;1.0;0.999;1.0;1.0	D	0.96735	0.9542	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141Y;ENSP00000352610:C141Y;ENSP00000269305:C141Y;ENSP00000398846:C141Y;ENSP00000391127:C141Y;ENSP00000391478:C141Y;ENSP00000425104:C9Y;ENSP00000423862:C48Y;ENSP00000424104:C141Y	ENSP00000269305:C141Y	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	28	0	0	0	1	0	29	28					T	7578508	C	T	7578508	3	4	515	1	0	0	0	0	1	0	0	0	16378	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	1400	7578508	73616702	38	40706											
AQP4	361	broad.mit.edu	37	chr18	24436242	24436242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctccccggtcaacgtcaAtcacatgcaccactccaggt	6	18	4	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr18:24436242A>G	ENST00000383168.4	-	5	1033	c.905T>C	c.(904-906)aTt>aCt	p.I302T	AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4_ENST00000583022.1_5'Flank|AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	302					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GTCAACGTCAATCACATGCAC	0.498																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(904-906)aTt>aCt		aquaporin 4							356	300	319					18																	24436242		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436242A>G	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"Ion channels / Aquaporins"	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.905T>C	18.37:g.24436242A>G	ENSP00000372654:p.Ile302Thr					AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000579964.1_RNA	p.I302T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	1033	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		302					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.905T>C	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334737	0.41297	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.87809	-2.3	5.75	4.59	0.56863	.	0.385711	0.32655	N	0.005809	T	0.79793	0.4507	L	0.27053	0.805	0.45129	D	0.998142	B	0.18863	0.031	B	0.14023	0.01	T	0.74990	-0.3475	10	0.87932	D	0	.	11.7415	0.51796	0.9309:0.0:0.0691:0.0	.	302	P55087	AQP4_HUMAN	T	302;282;198	ENSP00000372654:I302T	ENSP00000372654:I302T	I	-	2	0	AQP4	22690240	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	3.393000	0.52544	1.000000	0.39049	0.528000	0.53228	ATT		0.498	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		91	149	0	0	0	1	0	91	149					G	24436242	A	G	24436242	3	3	515	1	0	0	0	0	1	0	0	0	828	101	4	3	70	3	AQP4	18	24436242	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		24436242	53641006	39	40707											
USHBP1	83878	broad.mit.edu	37	chr19	17373549	17373549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcccccttcgcttgTgccttcgaactccatcggcc	7	19	0	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:17373549T>C	ENST00000252597.3	-	4	627	c.454A>G	c.(454-456)Aca>Gca	p.T152A	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTTCGCTTGTGCCTTCGAAC	0.672																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(454-456)Aca>Gca		Usher syndrome 1C binding protein 1							60	59	60					19																	17373549		2203	4299	6502	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373549T>C	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.454A>G	19.37:g.17373549T>C	ENSP00000252597:p.Thr152Ala					USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A|USHBP1_ENST00000598570.1_5'UTR	p.T152A	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	627	-			152						Missense_Mutation	SNP	ENST00000252597.3	37	c.454A>G	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	T	7.532	0.658925	0.14645	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.16743	2.32;2.32	3.85	-3.24	0.05094	.	1.002530	0.08044	N	0.995568	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.028;0.007;0.028	B;B;B	0.16722	0.016;0.003;0.011	T	0.41770	-0.9490	10	0.17369	T	0.5	-0.0129	5.4612	0.16617	0.0:0.4209:0.1557:0.4234	.	88;152;152	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	A	152;88;152	ENSP00000252597:T152A;ENSP00000407902:T88A	ENSP00000252597:T152A	T	-	1	0	USHBP1	17234549	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.716000	0.04991	-0.874000	0.04027	-0.644000	0.03951	ACA		0.672	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		34	77	0	0	0	1	0	34	77					C	17373549	T	C	17373549	3	2	515	1	0	0	0	0	1	0	0	0	17034	1696	59	3	1697	3	USHBP1	19	17373549	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		17373549	41755434	40	40708											
ZNF576	79177	broad.mit.edu	37	chr19	44103081	44103081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcacccagcggacttcGtggcccagaagctgcagggg	17	12	0	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:44103081G>A	ENST00000336564.4	+	3	338	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|SRRM5_ENST00000607544.1_Intron|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	62					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)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				AGCGGACTTCGTGGCCCAGAA	0.647																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(184-186)Gtg>Atg		zinc finger protein 576							84	98	93					19																	44103081		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103081G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"Zinc fingers, C2H2-type"	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.184G>A	19.37:g.44103081G>A	ENSP00000337852:p.Val62Met					SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M	p.V62M	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	338	+		Prostate(69;0.0199)	62					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.184G>A	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955503	0.73902	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01295	5.04;5.04;5.04;5.04;5.04;5.04	3.93	3.93	0.45458	.	0.271361	0.29822	N	0.011115	T	0.02455	0.0075	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.71331	-0.4625	10	0.44086	T	0.13	-12.0685	11.7501	0.51843	0.0:0.0:1.0:0.0	.	62	Q9H609	ZN576_HUMAN	M	62	ENSP00000375827:V62M;ENSP00000436182:V62M;ENSP00000435899:V62M;ENSP00000435934:V62M;ENSP00000435463:V62M;ENSP00000337852:V62M	ENSP00000337852:V62M	V	+	1	0	ZNF576	48794921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.283000	0.33237	2.500000	0.84329	0.591000	0.81541	GTG		0.647	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		10	118	0	0	0	1	0	10	118					A	44103081	G	A	44103081	3	1	515	1	0	0	0	0	1	0	0	0	18005	1145	40	1	190	1	ZNF576	19	44103081	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	26729532	44103081	15025902	41	40709											
GLTSCR2	29997	broad.mit.edu	37	chr19	48248903	48248903	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgcggcccacttcGgtggacccagcgctgaggcg	17	14	0	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:48248903G>T	ENST00000246802.5	+	1	125	c.87G>T	c.(85-87)tcG>tcT	p.S29S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	29						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGCCCACTTCGGTGGACCCAG	0.657																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(85-87)tcG>tcT		glioma tumor suppressor candidate region gene 2							51	61	57					19																	48248903		2203	4300	6503	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48248903G>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.87G>T	19.37:g.48248903G>T						GLTSCR2_ENST00000598681.1_3'UTR	p.S29S	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	125	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	29					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.87G>T	CCDS12705.1																																																																																				0.657	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		42	69	1	0	3.77016e-25	1	4.0647e-25	42	69					T	48248903	G	T	48248903	2	4	515	1	0	0	0	0	0	0	0	1	6475	1103	39	4		4	GLTSCR2	19	48248903	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4145822	48248903	10880080	42	40710											
RCN3	57333	broad.mit.edu	37	chr19	50031744	50031744	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgatgatgtggcgaccAtcagttctgctgcttctgtt	12	10	3	1	rs200270685		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:50031744A>G	ENST00000270645.3	+	2	462	c.15A>G	c.(13-15)ccA>ccG	p.P5P		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	5						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		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;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGTGGCGACCATCAGTTCTGC	0.667													A|||	1	0.000199681	0.0	0.0	5008	,	,		14159	0.0		0.001	False		,,,				2504	0.0					ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(13-15)ccA>ccG		reticulocalbin 3, EF-hand calcium binding domain		A		1,4405	2.1+/-5.4	0,1,2202	179	188	185		15	-8.4	0	19		185	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	RCN3	NM_020650.2		0,7,6496	GG,GA,AA		0.0698,0.0227,0.0538		5/329	50031744	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031744A>G	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.15A>G	19.37:g.50031744A>G							p.P5P	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	462	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	5					Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.15A>G	CCDS12771.1																																																																																				0.667	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		145	173	0	0	0	1	0	145	173					G	50031744	A	G	50031744	2	3	515	1	0	0	0	0	0	0	0	1	13181	204	8	3		3	RCN3	19	50031744	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08	1782841	50031744	9097239	43	40711											
NLRP5	126206	broad.mit.edu	37	chr19	56538685	56538685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgttgttcatcattgaCggtttcgatgacctgggctc	12	9	2	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:56538685C>T	ENST00000390649.3	+	7	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	362	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)		TCATCATTGACGGTTTCGATG	0.547																																						ENST00000390649.3																			0				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						c.(1084-1086)gaC>gaT		NLR family, pyrin domain containing 5							47	47	47					19																	56538685		2075	4210	6285	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538685C>T	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.1086C>T	19.37:g.56538685C>T							p.D362D	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1086	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	362			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1086C>T	CCDS12938.1																																																																																				0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		12	17	0	0	0	1	0	12	17					T	56538685	C	T	56538685	2	4	515	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56538685	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	6506941	56538685	2590298	44	40712											
SCARF2	91179	broad.mit.edu	37	chr22	20783912	20783912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgagcagcgcgcccgcGcccatcacgcccttgcgctg	13	18	1	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:20783912G>A	ENST00000266214.5	-	8	1439	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	SCARF2_ENST00000405555.3_Silent_p.G445G	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	445					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)			GCGCGCCCGCGCCCATCACGC	0.677																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(1333-1335)ggC>ggT		scavenger receptor class F, member 2							56	65	62					22																	20783912		2203	4300	6503	SO:0001819	synonymous_variant	0				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20783912G>A	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.1335C>T	22.37:g.20783912G>A						SCARF2_ENST00000266214.5_Silent_p.G445G	p.G445G	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		8	1405	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	445					E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	c.1335C>T	CCDS13779.1																																																																																				0.677	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			8	76	0	0	0	1	0	8	76					A	20783912	G	A	20783912	2	1	515	1	0	0	0	0	0	0	0	1	13884	1074	38	1		1	SCARF2	22	20783912	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		20783912	30520654	45	40713											
CCDC116	164592	broad.mit.edu	37	chr22	21989105	21989105	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggctcaagctctggCgtgcctgaagcatcagagcc	13	13	3	2	rs370484007		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:21989105C>T	ENST00000292779.3	+	4	914	c.753C>T	c.(751-753)ggC>ggT	p.G251G	CCDC116_ENST00000607942.1_Silent_p.G251G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	251										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAAGCTCTGGCGTGCCTGAAG	0.572																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(751-753)ggC>ggT		coiled-coil domain containing 116		C		1,4405	2.1+/-5.4	0,1,2202	84	87	86		753	-1.3	0	22		86	0,8600		0,0,4300	no	coding-synonymous	CCDC116	NM_152612.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		251/614	21989105	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	164592							g.chr22:21989105C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.753C>T	22.37:g.21989105C>T							p.G251G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	914	+	Colorectal(54;0.105)		251					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.753C>T	CCDS13791.1																																																																																				0.572	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		4	176	0	0	0	1	0	4	176					T	21989105	C	T	21989105	2	4	515	1	0	0	0	0	0	0	0	1	2753	755	27	1		1	CCDC116	22	21989105	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	1205193	21989105	29315461	46	40714											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	41						7	41	---	---	---	---	-	72433666	TCC	-	72433664	7	5	515	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-WY-A85D-01A-11D-A36O-08		72433664	82836896	47	40715											
ATRX	546	broad.mit.edu	37	chrX	76814253	76814253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgtcgaatataattactcGattagcagctaccagattaa	7	8	0	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:76814253G>A	ENST00000373344.5	-	29	6605	c.6391C>T	c.(6391-6393)Cga>Tga	p.R2131*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2131	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.		R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome). {ECO:0000269|PubMed:8630485}.		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						ATAATTACTCGATTAGCAGCT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(6391-6393)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						70	68	69					X																	76814253		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814253G>A	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.6391C>T	X.37:g.76814253G>A	ENSP00000362441:p.Arg2131*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093*	p.R2131*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6605	-			2131		R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome).	Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6391C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	48	14.573530	0.99801	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	4.31	0.51392	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.048	12.1564	0.54079	0.0:0.0:0.6005:0.3995	.	.	.	.	X	2131;2093	.	ENSP00000362441:R2131X	R	-	1	2	ATRX	76700909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.386000	0.34419	0.903000	0.36546	0.600000	0.82982	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		82	15	0	0	0	1	0	82	15					A	76814253	G	A	76814253	4	1	515	1	0	0	0	0	0	1	0	0	1208	1066	37	1	1115	1	ATRX	23	76814253	Nonsense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4380589	76814253	78456307	48	40716											
PIK3CD	5293	broad.mit.edu	37	chr1	9783245	9783245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcattgaggtggtactccGttcagacaccatcgccaaca	8	14	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:9783245G>A	ENST00000377346.4	+	20	2684	c.2489G>A	c.(2488-2490)cGt>cAt	p.R830H	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R854H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	830	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)	GTGGTACTCCGTTCAGACACC	0.587																																						ENST00000536656.1																			0				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						c.(2560-2562)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							143	139	140					1																	9783245		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783245G>A		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.2489G>A	1.37:g.9783245G>A	ENSP00000366563:p.Arg830His					PIK3CD_ENST00000377346.4_Missense_Mutation_p.R830H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H	p.R854H			O00329	PK3CD_HUMAN		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)	20	2769	+	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)	830			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.2561G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	6.345	0.431806	0.12045	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	D;D;D	0.81499	-1.5;-1.5;-1.5	4.94	-0.276	0.12902	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.238712	0.42548	N	0.000697	T	0.46964	0.1420	N	0.01352	-0.895	0.38516	D	0.948597	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.002	T	0.08472	-1.0720	10	0.27785	T	0.31	-24.3365	4.6747	0.12706	0.4306:0.298:0.2714:0.0	.	829;854;830	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	854;830;854;854	ENSP00000446444:R854H;ENSP00000366563:R830H;ENSP00000354410:R854H	ENSP00000353766:R854H	R	+	2	0	PIK3CD	9705832	0.297000	0.24408	0.011000	0.14972	0.684000	0.39900	0.927000	0.28818	-0.080000	0.12685	0.462000	0.41574	CGT		0.587	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		40	97	0	0	0	1	0	40	97					A	9783245	G	A	9783245	3	1	516	1	0	0	0	0	1	0	0	0	11915	1145	40	1	2559	1	PIK3CD	1	9783245	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		9783245	239467376	1	40717											
PRDM2	7799	broad.mit.edu	37	chr1	14105561	14105561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaacccagccaaacacTacagccgtcagaggatctgg	11	13	2	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:14105561T>G	ENST00000235372.7	+	8	2127	c.1271T>G	c.(1270-1272)cTa>cGa	p.L424R	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	424					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)		AGCCAAACACTACAGCCGTCA	0.522																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1270-1272)cTa>cGa		PR domain containing 2, with ZNF domain							46	46	46					1																	14105561		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105561T>G	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	ENST00000235372.7:c.1271T>G	1.37:g.14105561T>G	ENSP00000235372:p.Leu424Arg					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R|PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R	p.L424R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	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)	8	2127	+	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)	424					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.1271T>G	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143641	0.21205	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01685	4.79;4.7;4.69;4.69	5.36	3.0	0.34707	.	0.520307	0.19785	N	0.106132	T	0.04770	0.0129	L	0.59436	1.845	0.09310	N	1	D;B;D;D	0.71674	0.997;0.278;0.99;0.998	P;B;P;P	0.62014	0.791;0.055;0.731;0.897	T	0.37150	-0.9718	10	0.19147	T	0.46	.	6.2337	0.20750	0.1424:0.0785:0.0:0.779	.	424;282;424;424	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	R	424;424;424;223;223	ENSP00000235372:L424R;ENSP00000312352:L424R;ENSP00000411103:L223R;ENSP00000341621:L223R	ENSP00000235372:L424R	L	+	2	0	PRDM2	13978148	0.001000	0.12720	0.001000	0.08648	0.797000	0.45037	0.519000	0.22862	0.330000	0.23485	0.459000	0.35465	CTA		0.522	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		7	55	0	0	0	1	0	7	55					G	14105561	T	G	14105561	3	3	516	1	0	0	0	0	1	0	0	0	12458	1522	53	5	1297	5	PRDM2	1	14105561	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	4322316	14105561	235145060	2	40718											
DPYD	1806	broad.mit.edu	37	chr1	97547949	97547949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatacacatttcttcatcAatcatagccacaacttgctc	3	12	4	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:97547949A>C	ENST00000370192.3	-	22	2944	c.2844T>G	c.(2842-2844)atT>atG	p.I948M		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	948	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				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)	TTTCTTCATCAATCATAGCCA	0.388																																						ENST00000370192.3																			0				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						c.(2842-2844)atT>atG		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						240	220	227					1																	97547949		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97547949A>C	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.2844T>G	1.37:g.97547949A>C	ENSP00000359211:p.Ile948Met						p.I948M	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	22	2944	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	948			4Fe-4S ferredoxin-type 2.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2844T>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300900	0.60195	.	.	ENSG00000188641	ENST00000370192	D	0.93019	-3.15	5.82	-3.32	0.04973	4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	H	0.95437	3.67	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.96641	0.9474	10	0.87932	D	0	-16.2722	13.8832	0.63693	0.8329:0.0:0.1671:0.0	.	948	Q12882	DPYD_HUMAN	M	948	ENSP00000359211:I948M	ENSP00000359211:I948M	I	-	3	3	DPYD	97320537	0.296000	0.24398	0.956000	0.39512	0.743000	0.42351	-0.265000	0.08644	-0.471000	0.06891	-0.146000	0.13790	ATT		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		6	102	0	0	0	1	0	6	102					C	97547949	A	C	97547949	3	2	516	1	0	0	0	0	1	0	0	0	4745	126	5	5	241	5	DPYD	1	97547949	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	83442388	97547949	151702672	3	40719											
FLG	2312	broad.mit.edu	37	chr1	152285646	152285646	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgattgttcctcattTcgtgtttgtctgcttgcact	7	11	3	1	rs575108535	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:152285646T>G	ENST00000368799.1	-	3	1751	c.1716A>C	c.(1714-1716)cgA>cgC	p.R572R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	572	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)			GTTCCTCATTTCGTGTTTGTC	0.562									Ichthyosis																													ENST00000368799.1																			0				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						c.(1714-1716)cgA>cgC		filaggrin							427	401	409					1																	152285646		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285646T>G	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.1716A>C	1.37:g.152285646T>G						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R572R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1751	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		572			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1716A>C	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	461	0	0	0	1	0	5	461					G	152285646	T	G	152285646	2	3	516	1	0	0	0	0	0	0	0	1	5922	1770	62	5		5	FLG	1	152285646	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	54737697	152285646	96964975	4	40720											
IL6R	3570	broad.mit.edu	37	chr1	154422442	154422442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagagattctgcaaatgCgacaagcctcccaggtaagg	10	11	2	1	rs373575595		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:154422442C>T	ENST00000368485.3	+	8	1489	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	351					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TCTGCAAATGCGACAAGCCTC	0.428																																						ENST00000368485.3																		IL6R/ATP8B2(2)	0				breast(2)|large_intestine(1)|ovary(3)	6						c.(1051-1053)gCg>gTg		interleukin 6 receptor		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	120	121	121		1052,1052	2.9	0	1		121	0,8600		0,0,4300	no	missense,missense	IL6R	NM_181359.2,NM_000565.3	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	351/366,351/469	154422442	1,13005	2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154422442C>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1052C>T	1.37:g.154422442C>T	ENSP00000357470:p.Ala351Val					IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	p.A351V	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1489	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		351					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.1052C>T	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.61|11.61	1.689050|1.689050	0.29962|0.29962	2.27E-4|2.27E-4	0.0|0.0	ENSG00000160712|ENSG00000160712	ENST00000368485;ENST00000344086|ENST00000476006;ENST00000515190	T;T|.	0.25749|.	2.24;1.78|.	3.82|3.82	2.91|2.91	0.33838|0.33838	.|.	3.557750|.	0.00604|.	N|.	0.000388|.	T|.	0.16685|.	0.0401|.	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.15141|.	0.012;0.01|.	B;B|.	0.10450|.	0.005;0.002|.	T|.	0.14980|.	-1.0453|.	10|.	0.39692|.	T|.	0.17|.	-0.0894|-0.0894	7.6249|7.6249	0.28206|0.28206	0.0:0.8854:0.0:0.1146|0.0:0.8854:0.0:0.1146	.|.	351;351|.	P08887-2;P08887|.	.;IL6RA_HUMAN|.	V|X	351|290;154	ENSP00000357470:A351V;ENSP00000340589:A351V|.	ENSP00000340589:A351V|.	A|R	+|+	2|1	0|2	IL6R|IL6R	152689066|152689066	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.307000|0.307000	0.27823|0.27823	0.452000|0.452000	0.21795|0.21795	1.197000|1.197000	0.43143|0.43143	-0.244000|-0.244000	0.11960|0.11960	GCG|CGA		0.428	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		7	68	0	0	0	1	0	7	68					T	154422442	C	T	154422442	3	4	516	1	0	0	0	0	1	0	0	0	7702	768	27	1	1082	1	IL6R	1	154422442	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2136796	154422442	94828179	5	40721											
ASH1L	55870	broad.mit.edu	37	chr1	155317506	155317506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagaggccacagatacagcGaataacatcgtcgtccttct	9	11	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:155317506G>A	ENST00000368346.3	-	20	8398	c.7759C>T	c.(7759-7761)Cgc>Tgc	p.R2587C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2587					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)			CAGATACAGCGAATAACATCG	0.488																																						ENST00000368346.3																			0				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						c.(7759-7761)Cgc>Tgc		ash1 (absent, small, or homeotic)-like (Drosophila)							274	223	240					1																	155317506		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155317506G>A	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.7759C>T	1.37:g.155317506G>A	ENSP00000357330:p.Arg2587Cys					ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C	p.R2587C			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8398	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2587					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7759C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.322506	0.95708	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.57436	0.4;0.4	5.4	5.4	0.78164	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	T	0.80336	0.4604	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85853	0.1405	10	0.87932	D	0	.	18.9481	0.92630	0.0:0.0:1.0:0.0	.	2587;2582	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	2587;2582	ENSP00000357330:R2587C;ENSP00000376204:R2582C	ENSP00000357330:R2587C	R	-	1	0	ASH1L	153584130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.504000	0.81646	2.809000	0.96659	0.655000	0.94253	CGC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	91	0	0	0	1	0	6	91					A	155317506	G	A	155317506	3	1	516	1	0	0	0	0	1	0	0	0	1041	1058	37	1	1186	1	ASH1L	1	155317506	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	895064	155317506	93933115	6	40722											
FCGR2A	2212	broad.mit.edu	37	chr1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacataggctacacgctgtTctcatccaagcctgtgacca	7	13	1	1	rs141094947	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527													T|||	16	0.00319489	0.0076	0.0014	5008	,	,		20399	0.0		0.001	False		,,,				2504	0.0041					ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(586-588)tTc>tAc		Fc fragment of IgG, low affinity IIa, receptor (CD32)	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)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						112	95	101					1																	161479832		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161479832T>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.587T>A	1.37:g.161479832T>A	ENSP00000271450:p.Phe196Tyr					FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y|FCGR2A_ENST00000467525.1_3'UTR	p.F196Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	625	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		196			Ig-like C2-type 2.		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.587T>A	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565357	0.00903	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12255	2.7;2.7	2.66	0.29	0.15728	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	17.507600	0.00166	N	0.000000	T	0.00815	0.0027	N	0.01257	-0.925	0.22142	N	0.999332	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34675	-0.9819	9	0.02654	T	1	.	2.2063	0.03936	0.5991:0.0:0.1472:0.2537	.	196;195	P12318;P12318-2	FCG2A_HUMAN;.	Y	195;196	ENSP00000356949:F195Y;ENSP00000271450:F196Y	ENSP00000271450:F196Y	F	+	2	0	FCGR2A	159746456	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.448000	0.21726	0.033000	0.15463	-0.390000	0.06520	TTC		0.527	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		4	73	0	0	0	1	0	4	73					A	161479832	T	A	161479832	3	1	516	1	0	0	0	0	1	0	0	0	5781	1783	62	5	601	5	FCGR2A	1	161479832	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	6162326	161479832	87770789	7	40723											
C1orf125	126859	broad.mit.edu	37	chr1	179478532	179478532	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaatagagcggctactTgaagaggtatttgccacatg	12	6	0	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:179478532T>A	ENST00000367618.3	+	21	2877	c.2490T>A	c.(2488-2490)ctT>ctA	p.L830L		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	830	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGCGGCTACTTGAAGAGGTAT	0.353																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2488-2490)ctT>ctA		axonemal dynein light chain domain containing 1							74	70	71					1																	179478532		2203	4300	6503	SO:0001819	synonymous_variant	126859							g.chr1:179478532T>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2490T>A	1.37:g.179478532T>A							p.L830L	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			21	2877	+			830			Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.2490T>A	CCDS30948.1																																																																																				0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		6	35	0	0	0	1	0	6	35					A	179478532	T	A	179478532	2	1	516	1	0	0	0	0	0	0	0	1	1993	1799	63	5		5	C1orf125	1	179478532	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	17998700	179478532	69772089	8	40724											
IL10	3586	broad.mit.edu	37	chr1	206943190	206943190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttattaaaggcattcTtcacctgctccacggccttg	6	14	3	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:206943190T>C	ENST00000423557.1	-	4	486	c.428A>G	c.(427-429)aAg>aGg	p.K143R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	143					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|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)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAGGCATTCTTCACCTGCTC	0.527																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(427-429)aAg>aGg		interleukin 10							139	105	117					1																	206943190		2203	4300	6503	SO:0001583	missense	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206943190T>C	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.428A>G	1.37:g.206943190T>C	ENSP00000412237:p.Lys143Arg					IL10_ENST00000471071.1_5'UTR	p.K143R	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	486	-	Breast(84;0.183)		143						Missense_Mutation	SNP	ENST00000423557.1	37	c.428A>G	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124395	0.37533	.	.	ENSG00000136634	ENST00000423557	T	0.70399	-0.48	6.08	6.08	0.98989	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.198584	0.53938	D	0.000053	T	0.74558	0.3732	M	0.85710	2.77	0.50632	D	0.999882	B	0.17268	0.021	B	0.22386	0.039	T	0.72984	-0.4125	10	0.56958	D	0.05	-36.462	13.0356	0.58870	0.0:0.0:0.0:1.0	.	143	P22301	IL10_HUMAN	R	143	ENSP00000412237:K143R	ENSP00000412237:K143R	K	-	2	0	IL10	205009813	0.998000	0.40836	0.987000	0.45799	0.126000	0.20510	4.158000	0.58150	2.333000	0.79357	0.533000	0.62120	AAG		0.527	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		41	37	0	0	0	1	0	41	37					C	206943190	T	C	206943190	3	2	516	1	0	0	0	0	1	0	0	0	7619	1609	56	3	116	3	IL10	1	206943190	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	27464658	206943190	42307431	9	40725											
C1orf107	27042	broad.mit.edu	37	chr1	210010488	210010488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggcaacaatagcagaCgccgaagccagaagtttgga	12	9	0	2	rs61740244	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:210010488C>T	ENST00000491415.2	+	6	1051	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	332					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						CAATAGCAGACGCCGAAGCCA	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.002					ENST00000491415.2																			0				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						c.(994-996)Cgc>Tgc		digestive organ expansion factor homolog (zebrafish)		C	CYS/ARG	0,4406		0,0,2203	51	44	46		994	3	0.8	1	dbSNP_129	46	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DIEXF	NM_014388.6	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	332/757	210010488	2,13004	2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210010488C>T	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.994C>T	1.37:g.210010488C>T	ENSP00000419005:p.Arg332Cys						p.R332C	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			6	1051	+			332					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.994C>T	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902111	0.33628	0.0	2.33E-4	ENSG00000117597	ENST00000491415	T	0.44881	0.91	5.91	3.03	0.35002	.	0.461717	0.25552	N	0.029898	T	0.22360	0.0539	N	0.14661	0.345	0.22541	N	0.99901	B	0.24186	0.099	B	0.17433	0.018	T	0.13845	-1.0494	10	0.56958	D	0.05	-2.9478	5.7461	0.18120	0.2247:0.5833:0.0:0.1921	rs61740244	332	Q68CQ4	DIEXF_HUMAN	C	332	ENSP00000419005:R332C	ENSP00000419005:R332C	R	+	1	0	DIEXF	208077111	0.020000	0.18652	0.779000	0.31741	0.979000	0.70002	0.860000	0.27871	0.846000	0.35142	0.655000	0.94253	CGC		0.512	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		18	22	0	0	0	1	0	18	22					T	210010488	C	T	210010488	3	4	516	1	0	0	0	0	1	0	0	0	1981	536	19	1	1016	1	C1orf107	1	210010488	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3067298	210010488	39240133	10	40726											
OBSCN	84033	broad.mit.edu	37	chr1	228476495	228476495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggacggggctgtgtgCgagctgcagatctgtggcct	18	9	1	1	rs573798549		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:228476495C>T	ENST00000422127.1	+	38	10289	c.10245C>T	c.(10243-10245)tgC>tgT	p.C3415C	OBSCN_ENST00000570156.2_Silent_p.C3844C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000366709.4_Silent_p.C534C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3415	Ig-like 34.				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)				GGGCTGTGTGCGAGCTGCAGA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19446	0.001		0.0	False		,,,				2504	0.0					ENST00000570156.2																			0				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						c.(11530-11532)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							110	131	124					1																	228476495		2181	4269	6450	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228476495C>T	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.10245C>T	1.37:g.228476495C>T						OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000422127.1_Silent_p.C3415C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000366709.4_Silent_p.C534C	p.C3844C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			43	11606	+		Prostate(94;0.0405)	2881			Ig-like 39.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.11532C>T	CCDS58065.1																																																																																				0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	77	0	0	0	1	0	14	77					T	228476495	C	T	228476495	2	4	516	1	0	0	0	0	0	0	0	1	10812	776	27	1		1	OBSCN	1	228476495	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	18466007	228476495	20774126	11	40727											
MYT1L	23040	broad.mit.edu	37	chr2	1914018	1914018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgggtacctgagcAcgcggtccgaggcctggctg	15	14	0	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:1914018A>G	ENST00000399161.2	-	13	2558	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	604					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)			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)		GTACCTGAGCACGCGGTCCGA	0.632																																						ENST00000399161.2																			0				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						c.(1810-1812)gTg>gCg		myelin transcription factor 1-like							47	56	53					2																	1914018		2104	4207	6311	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914018A>G	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.1811T>C	2.37:g.1914018A>G	ENSP00000382114:p.Val604Ala					MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	p.V604A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2558	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	604					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1811T>C		.	.	.	.	.	.	.	.	.	.	A	26.5	4.742392	0.89573	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.42245	1.32	0.80722	D	1	P;D	0.54601	0.956;0.967	P;P	0.55391	0.676;0.775	T	0.43180	-0.9407	10	0.15066	T	0.55	-38.7473	15.3622	0.74487	1.0:0.0:0.0:0.0	.	604;602	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	A	604;550;602	ENSP00000382114:V604A;ENSP00000396103:V602A	ENSP00000295067:V550A	V	-	2	0	MYT1L	1893025	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	8.960000	0.93117	2.101000	0.63845	0.533000	0.62120	GTG		0.632	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		13	23	0	0	0	1	0	13	23					G	1914018	A	G	1914018	3	3	516	1	0	0	0	0	1	0	0	0	10107	159	6	3	1801	3	MYT1L	2	1914018	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		1914018	241285355	12	40728											
APOB	338	broad.mit.edu	37	chr2	21230915	21230915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactaatttgtgattcaTgtgttccctcatctgagaat	7	7	3	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:21230915T>C	ENST00000233242.1	-	26	8952	c.8825A>G	c.(8824-8826)cAt>cGt	p.H2942R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2942					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)					TTGTGATTCATGTGTTCCCTC	0.438																																						ENST00000233242.1																			0				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						c.(8824-8826)cAt>cGt		apolipoprotein B	Atorvastatin(DB01076)						165	163	164					2																	21230915		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230915T>C	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.8825A>G	2.37:g.21230915T>C	ENSP00000233242:p.His2942Arg						p.H2942R	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8952	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2942					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8825A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.443624	0.43429	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01145	5.27	5.74	4.58	0.56647	.	0.192262	0.36303	N	0.002676	T	0.02342	0.0072	M	0.76574	2.34	0.80722	D	1	B	0.29508	0.246	B	0.28305	0.088	T	0.44406	-0.9330	10	0.72032	D	0.01	.	11.6449	0.51255	0.0:0.0693:0.0:0.9307	.	2942	P04114	APOB_HUMAN	R	2942	ENSP00000233242:H2942R	ENSP00000233242:H2942R	H	-	2	0	APOB	21084420	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	6.246000	0.72405	1.005000	0.39183	0.459000	0.35465	CAT		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	134	0	0	0	1	0	11	134					C	21230915	T	C	21230915	3	2	516	1	0	0	0	0	1	0	0	0	785	1464	51	3	4882	3	APOB	2	21230915	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	19316897	21230915	221968458	13	40729											
ASTL	431705	broad.mit.edu	37	chr2	96799705	96799705	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgccatgctcactcaccGtacttgctggagagcaggaa	12	13	2	1	rs148110898		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		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						CTCACTCACCGTACTTGCTGG	0.582																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.e4+1		astacin-like metallo-endopeptidase (M12 family)		G		0,4406		0,0,2203	133	88	103		336	-10	0	2	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ASTL	NM_001002036.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		112/432	96799705	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799705G>A	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.337+1C>T	2.37:g.96799705G>A							p.Y112_splice	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			4	335	-			112						Splice_Site	SNP	ENST00000342380.2	37	c.337_splice	CCDS33249.1																																																																																				0.582	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		Silent	3	29	0	0	0	1	0	3	29					A	96799705	G	A	96799705	5	1	516	1	0	0	0	0	0	0	1	0	1063	1159	40	1	982	1	ASTL	2	96799705	Splice_Site	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	75568790	96799705	146399668	14	40730											
THSD7B	80731	broad.mit.edu	37	chr2	137852651	137852651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacttcttgagaaagagGcctgcattgttgaaggagaa	12	6	1	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:137852651G>T	ENST00000409968.1	+	4	1337	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S|THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	387	TSP type-1 4. {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)		TGAGAAAGAGGCCTGCATTGT	0.468																																						ENST00000409968.1																			0				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						c.(1159-1161)Gcc>Tcc		thrombospondin, type I, domain containing 7B							84	95	91					2																	137852651		1970	4161	6131	SO:0001583	missense	80731							g.chr2:137852651G>T			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.1159G>T	2.37:g.137852651G>T	ENSP00000387145:p.Ala387Ser					THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S|THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S	p.A387S						BRCA - Breast invasive adenocarcinoma(221;0.19)	4	1337	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1159G>T		.	.	.	.	.	.	.	.	.	.	G	18.95	3.730821	0.69074	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.84	4.96	0.65561	.	0.046742	0.85682	D	0.000000	T	0.58538	0.2129	L	0.41079	1.255	0.50467	D	0.999875	D;D	0.53462	0.96;0.959	D;P	0.65573	0.936;0.786	T	0.53301	-0.8458	10	0.08837	T	0.75	.	13.7189	0.62714	0.0755:0.0:0.9245:0.0	.	387;356	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	387;387;356;246	ENSP00000387145:A387S;ENSP00000272643:A387S;ENSP00000413841:A356S;ENSP00000443370:A246S	ENSP00000272643:A387S	A	+	1	0	THSD7B	137569121	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	7.520000	0.81821	1.446000	0.47643	0.650000	0.86243	GCC		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	34	1	0	1	1	1	4	34					T	137852651	G	T	137852651	3	4	516	1	0	0	0	0	1	0	0	0	15877	1203	42	4	1076	4	THSD7B	2	137852651	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	41052946	137852651	105346722	15	40731											
SPATS2L	26010	broad.mit.edu	37	chr2	201303981	201303981	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcaagcctaaggcaaaaacAtctcctgttaagtccaatac	6	11	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:201303981A>T	ENST00000358677.5	+	7	829	c.582A>T	c.(580-582)acA>acT	p.T194T	SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409988.3_Silent_p.T194T|SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000409140.3_Silent_p.T194T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000409718.1_Silent_p.T194T	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	194						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						AGGCAAAAACATCTCCTGTTA	0.443																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(580-582)acA>acT		spermatogenesis associated, serine-rich 2-like							110	104	106					2																	201303981		1902	4116	6018	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201303981A>T	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.582A>T	2.37:g.201303981A>T						SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000358677.4_Silent_p.T194T|SPATS2L_ENST00000409718.1_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000409140.3_Silent_p.T194T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000360760.5_Intron	p.T194T	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			7	1105	+			194					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.582A>T	CCDS46483.1																																																																																				0.443	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		16	34	0	0	0	1	0	16	34					T	201303981	A	T	201303981	2	4	516	1	0	0	0	0	0	0	0	1	15019	204	8	5		5	SPATS2L	2	201303981	Silent	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	63451330	201303981	41895392	16	40732											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	8	9	0	4	rs121913500		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79	73	75					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	52	0	0	0	1	0	22	52					T	209113112	C	T	209113112	3	4	516	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	7809131	209113112	34086261	17	40733											
LRRN1	57633	broad.mit.edu	37	chr3	3887104	3887104	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcaacttgccctgcAaaaagttccaaatttgaaat	5	11	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:3887104A>G	ENST00000319331.3	+	2	1540	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	260						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGCCCTGCAAAAAGTTCCA	0.398																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(778-780)cAa>cGa		leucine rich repeat neuronal 1							73	81	78					3																	3887104		2203	4299	6502	SO:0001583	missense	57633					integral to membrane		g.chr3:3887104A>G	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.779A>G	3.37:g.3887104A>G	ENSP00000314901:p.Gln260Arg					SUMF1_ENST00000534863.1_Intron	p.Q260R	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1540	+			260					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.779A>G	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047598	0.36085	.	.	ENSG00000175928	ENST00000319331	T	0.58060	0.36	5.46	4.32	0.51571	.	0.174768	0.51477	D	0.000081	T	0.30262	0.0759	N	0.11106	0.095	0.46279	D	0.998969	B	0.02656	0.0	B	0.04013	0.001	T	0.10941	-1.0608	10	0.19147	T	0.46	.	10.7554	0.46234	0.9256:0.0:0.0744:0.0	.	260	Q6UXK5	LRRN1_HUMAN	R	260	ENSP00000314901:Q260R	ENSP00000314901:Q260R	Q	+	2	0	LRRN1	3862104	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.313000	0.72844	2.067000	0.61834	0.477000	0.44152	CAA		0.398	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		44	60	0	0	0	1	0	44	60					G	3887104	A	G	3887104	3	3	516	1	0	0	0	0	1	0	0	0	9034	130	5	3	781	3	LRRN1	3	3887104	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		3887104	194135326	18	40734											
ACVR2B	93	broad.mit.edu	37	chr3	38519421	38519421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaggcaacttctgcaaCgaacgcttcactcatttgcc	8	12	3	1	rs528729033		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:38519421C>T	ENST00000352511.4	+	3	802	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	110					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACTTCTGCAACGAACGCTTCA	0.582																																						ENST00000352511.3																			0				lung(1)	1						c.(328-330)aaC>aaT		activin A receptor, type IIB							128	126	126					3																	38519421		2203	4300	6503	SO:0001819	synonymous_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38519421C>T	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.330C>T	3.37:g.38519421C>T							p.N110N	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	3	802	+	Medulloblastoma(35;0.163)		110					Q4VAV0	Silent	SNP	ENST00000352511.4	37	c.330C>T	CCDS2679.1																																																																																				0.582	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		49	52	0	0	0	1	0	49	52					T	38519421	C	T	38519421	2	4	516	1	0	0	0	0	0	0	0	1	224	535	19	1		1	ACVR2B	3	38519421	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	34632317	38519421	159503009	19	40735											
STAB1	23166	broad.mit.edu	37	chr3	52539037	52539037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatactcctacaagtacAaagaccagccccagcagacg	7	13	0	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:52539037A>G	ENST00000321725.6	+	13	1472	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	466	FAS1 1. {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)		CTACAAGTACAAAGACCAGCC	0.587																																						ENST00000321725.6																			0				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						c.(1396-1398)Aaa>Gaa		stabilin 1							102	105	104					3																	52539037		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539037A>G	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.1396A>G	3.37:g.52539037A>G	ENSP00000312946:p.Lys466Glu						p.K466E	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		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)	13	1472	+			466			FAS1 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1396A>G	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	A	0.445	-0.896757	0.02472	.	.	ENSG00000010327	ENST00000321725	D	0.90004	-2.6	5.08	-3.47	0.04753	FAS1 domain (3);	1.473280	0.03837	N	0.269948	T	0.77377	0.4121	N	0.21373	0.66	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.004	T	0.67753	-0.5589	10	0.02654	T	1	.	7.6908	0.28567	0.3157:0.1456:0.5387:0.0	.	466;466	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	466	ENSP00000312946:K466E	ENSP00000312946:K466E	K	+	1	0	STAB1	52514077	0.000000	0.05858	0.004000	0.12327	0.386000	0.30323	-0.358000	0.07641	-0.529000	0.06358	-0.451000	0.05528	AAA		0.587	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	64	0	0	0	1	0	4	64					G	52539037	A	G	52539037	3	3	516	1	0	0	0	0	1	0	0	0	15236	131	5	3	1446	3	STAB1	3	52539037	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	14019616	52539037	145483393	20	40736											
MORC1	27136	broad.mit.edu	37	chr3	108780872	108780872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttctgtcacactggtttActttgatttgtgcttctttc	8	8	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:108780872A>C	ENST00000483760.1	-	11	972	c.929T>G	c.(928-930)gTa>gGa	p.V310G	MORC1_ENST00000232603.5_Missense_Mutation_p.V310G					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACACTGGTTTACTTTGATTTG	0.338																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(928-930)gTa>gGa		MORC family CW-type zinc finger 1							213	196	202					3																	108780872		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108780872A>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.929T>G	3.37:g.108780872A>C	ENSP00000417282:p.Val310Gly					MORC1_ENST00000483760.1_Missense_Mutation_p.V310G	p.V310G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			11	1011	-			310						Missense_Mutation	SNP	ENST00000483760.1	37	c.929T>G		.	.	.	.	.	.	.	.	.	.	A	6.764	0.509847	0.12883	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06608	3.28;3.29	5.4	-2.87	0.05700	.	0.627493	0.14203	N	0.334573	T	0.04907	0.0132	L	0.60455	1.87	0.09310	N	0.999996	P;B	0.35077	0.483;0.215	B;B	0.30251	0.113;0.065	T	0.24905	-1.0147	10	0.48119	T	0.1	-0.4657	1.6171	0.02705	0.3973:0.144:0.3198:0.1389	.	310;310	E7ERX1;Q86VD1	.;MORC1_HUMAN	G	310	ENSP00000232603:V310G;ENSP00000417282:V310G	ENSP00000232603:V310G	V	-	2	0	MORC1	110263562	0.290000	0.24343	0.000000	0.03702	0.096000	0.18686	-0.160000	0.10041	-0.641000	0.05487	-0.480000	0.04831	GTA		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			20	60	0	0	0	1	0	20	60					C	108780872	A	C	108780872	3	2	516	1	0	0	0	0	1	0	0	0	9701	391	14	5	2097	5	MORC1	3	108780872	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	56241835	108780872	89241558	21	40737											
KTELC1	56983	broad.mit.edu	37	chr3	119187879	119187879	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccggcgatggagtggtGggctagctcgccgcttcggc	17	12	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:119187879G>A	ENST00000295588.4	+	1	95	c.11G>A	c.(10-12)tGg>tAg	p.W4*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	4					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATGGAGTGGTGGGCTAGCTCG	0.711																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(10-12)tGg>tAg		protein O-glucosyltransferase 1							47	40	42					3																	119187879		2202	4299	6501	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119187879G>A	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.11G>A	3.37:g.119187879G>A	ENSP00000295588:p.Trp4*						p.W4*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			1	95	+			4					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.11G>A	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032275	0.54790	.	.	ENSG00000163389	ENST00000295588	.	.	.	4.58	-1.38	0.09027	.	3.035780	0.00695	N	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	9.7467	7.973	0.30138	0.0:0.4287:0.2799:0.2914	.	.	.	.	X	4	.	ENSP00000295588:W4X	W	+	2	0	POGLUT1	120670569	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.181000	0.09740	-0.058000	0.13177	0.655000	0.94253	TGG		0.711	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		3	4	0	0	0	1	0	3	4					A	119187879	G	A	119187879	4	1	516	1	0	0	0	0	0	1	0	0	8583	1357	47	2	13	2	KTELC1	3	119187879	Nonsense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	10407007	119187879	78834551	22	40738											
PIK3CA	5290	broad.mit.edu	37	chr3	178928226	178928226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatctcttaggaaactcCatgcttagagttggagtttg	9	8	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:178928226C>T	ENST00000263967.3	+	9	1569	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	471	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)	p.P471L(6)		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)	TAGGAAACTCCATGCTTAGAG	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		6	Substitution - Missense(6)	p.P471L(6)	large_intestine(2)|endometrium(2)|skin(2)	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						c.(1411-1413)cCa>cTa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	93	95					3																	178928226		1846	4090	5936	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928226C>T		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.1412C>T	3.37:g.178928226C>T	ENSP00000263967:p.Pro471Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P471L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1569	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		471			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1412C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756128	0.89843	.	.	ENSG00000121879	ENST00000263967	T	0.75821	-0.97	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.107853	0.64402	D	0.000005	D	0.83769	0.5326	M	0.74258	2.255	0.80722	D	1	D	0.56968	0.978	P	0.57620	0.824	T	0.81326	-0.0983	10	0.30854	T	0.27	-14.0418	19.6973	0.96031	0.0:1.0:0.0:0.0	.	471	P42336	PK3CA_HUMAN	L	471	ENSP00000263967:P471L	ENSP00000263967:P471L	P	+	2	0	PIK3CA	180410920	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.466000	0.80914	2.674000	0.91012	0.655000	0.94253	CCA		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	67	0	0	0	1	0	5	67					T	178928226	C	T	178928226	3	4	516	1	0	0	0	0	1	0	0	0	11913	594	21	2	1442	2	PIK3CA	3	178928226	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	59740347	178928226	19094204	23	40739											
CORIN	10699	broad.mit.edu	37	chr4	47605646	47605646	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatggatggtctagattgttGatgccaagcaccactttcca	10	9	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:47605646G>A	ENST00000273857.4	-	20	2579	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	CORIN_ENST00000508498.1_Silent_p.I721I|CORIN_ENST00000502252.1_Silent_p.I793I|CORIN_ENST00000505909.1_Silent_p.I823I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	860	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTAGATTGTTGATGCCAAGCA	0.428																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2578-2580)atC>atT		corin, serine peptidase							136	119	125					4																	47605646		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47605646G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2580C>T	4.37:g.47605646G>A						CORIN_ENST00000505909.1_Silent_p.I823I|CORIN_ENST00000508498.1_Silent_p.I721I|CORIN_ENST00000502252.1_Silent_p.I793I	p.I860I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			20	2579	-			860			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2580C>T	CCDS3477.1																																																																																				0.428	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			14	75	0	0	0	1	0	14	75					A	47605646	G	A	47605646	2	1	516	1	0	0	0	0	0	0	0	1	3752	1280	45	2		2	CORIN	4	47605646	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		47605646	143548630	24	40740											
CSN3	1448	broad.mit.edu	37	chr4	71115134	71115134	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtccatcatcacgagcacCcctgagacaaccacagttgc	8	15	2	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:71115134C>A	ENST00000304954.3	+	4	593	c.507C>A	c.(505-507)acC>acA	p.T169T		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCACGAGCACCCCTGAGACAA	0.448																																						ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(505-507)acC>acA		casein kappa							66	65	66					4																	71115134		2203	4300	6503	SO:0001819	synonymous_variant	1448					extracellular region	protein binding	g.chr4:71115134C>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.507C>A	4.37:g.71115134C>A							p.T169T	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			4	593	+			169					B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000304954.3	37	c.507C>A	CCDS3538.1																																																																																				0.448	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		13	23	1	0	0.00244969	1	0.00263458	13	23					A	71115134	C	A	71115134	2	1	516	1	0	0	0	0	0	0	0	1	3949	610	22	4		4	CSN3	4	71115134	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	23509488	71115134	120039142	25	40741											
PITX2	5308	broad.mit.edu	37	chr4	111539467	111539467	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggcaggcgtcggcacCgcggaattcagcgacgggct	17	12	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:111539467C>A	ENST00000354925.2	-	7	2473	c.768G>T	c.(766-768)gcG>gcT	p.A256A	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Silent_p.A256A|PITX2_ENST00000394595.3_3'UTR|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	256					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|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 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 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)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGTCGGCACCGCGGAATTCA	0.597																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10						c.(766-768)gcG>gcT		paired-like homeodomain 2							46	49	48					4																	111539467		2203	4300	6503	SO:0001819	synonymous_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539467C>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.768G>T	4.37:g.111539467C>A						PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000394598.2_Silent_p.A256A	p.A256A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2473	-		Hepatocellular(203;0.217)	256					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	ENST00000354925.2	37	c.768G>T	CCDS3692.1																																																																																				0.597	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			6	28	1	0	0.0215528	1	0.0223365	6	28					A	111539467	C	A	111539467	2	1	516	1	0	0	0	0	0	0	0	1	11955	639	23	4		4	PITX2	4	111539467	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	40424333	111539467	79614809	26	40742											
SLC6A3	6531	broad.mit.edu	37	chr5	1414807	1414807	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggaggggctcaccGtccttggccacgtccccgat	13	15	1	0	rs145114326	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:1414807G>A	ENST00000270349.9	-	8	1282	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	SLC6A3_ENST00000453492.2_Splice_Site_p.D385D	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	385					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGGGCTCACCGTCCTTGGCCA	0.607													G|||	3	0.000599042	0.0008	0.0	5008	,	,		12831	0.002		0.0	False		,,,				2504	0.0					ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e8+1		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G		0,4402		0,0,2201	67	51	56		1155	-5	0.9	5	dbSNP_134	56	6,8594	5.0+/-18.6	0,6,4294	yes	coding-synonymous-near-splice	SLC6A3	NM_001044.4		0,6,6495	AA,AG,GG		0.0698,0.0,0.0461		385/621	1414807	6,12996	2201	4300	6501	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1414807G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1156+1C>T	5.37:g.1414807G>A						SLC6A3_ENST00000453492.2_Splice_Site_p.D385_splice	p.D385_splice	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		8	1282	-			385					A2RUN4|Q14996	Splice_Site	SNP	ENST00000270349.9	37	c.1156_splice	CCDS3863.1																																																																																				0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Silent	8	16	0	0	0	1	0	8	16					A	1414807	G	A	1414807	5	1	516	1	0	0	0	0	0	0	1	0	14685	1159	40	1	739	1	SLC6A3	5	1414807	Splice_Site	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		1414807	179500453	27	40743											
EGFLAM	133584	broad.mit.edu	37	chr5	38435297	38435297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattggcggagtccccaattAtgatgatgtgaagaagaact	11	7	0	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:38435297A>G	ENST00000354891.3	+	16	2571	c.2225A>G	c.(2224-2226)tAt>tGt	p.Y742C	EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000322350.5_Missense_Mutation_p.Y742C	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	742	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)					GTCCCCAATTATGATGATGTG	0.453																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				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						c.(2224-2226)tAt>tGt		EGF-like, fibronectin type III and laminin G domains							107	106	107					5																	38435297		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38435297A>G	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.2225A>G	5.37:g.38435297A>G	ENSP00000346964:p.Tyr742Cys					EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y742C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C	p.Y742C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			16	2571	+	all_lung(31;0.000385)		742			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2225A>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050485	0.55218	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.79845	-1.13;-1.13;-1.13;-1.31	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.972	D	0.92138	0.5718	10	0.62326	D	0.03	-13.4699	16.167	0.81768	1.0:0.0:0.0:0.0	.	508;742;742	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	C	742;742;508;108;508	ENSP00000346964:Y742C;ENSP00000313084:Y742C;ENSP00000337607:Y508C;ENSP00000380385:Y108C	ENSP00000313084:Y742C	Y	+	2	0	EGFLAM	38471054	1.000000	0.71417	0.521000	0.27850	0.143000	0.21401	8.576000	0.90770	2.210000	0.71456	0.533000	0.62120	TAT		0.453	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		5	63	0	0	0	1	0	5	63					G	38435297	A	G	38435297	3	3	516	1	0	0	0	0	1	0	0	0	4966	449	16	3	2301	3	EGFLAM	5	38435297	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	37020490	38435297	142479963	28	40744											
PTGER4	5734	broad.mit.edu	37	chr5	40681653	40681653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacgccgcctactcctaCatgtacgcgggcttcagctc	10	17	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:40681653C>T	ENST00000302472.3	+	2	1582	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	186					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)	CCTACTCCTACATGTACGCGG	0.637																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(556-558)taC>taT		prostaglandin E receptor 4 (subtype EP4)							48	43	45					5																	40681653		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681653C>T	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.558C>T	5.37:g.40681653C>T						PTGER4_ENST00000514343.1_3'UTR	p.Y186Y	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1582	+			186					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.558C>T	CCDS3930.1																																																																																				0.637	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		4	48	0	0	0	1	0	4	48					T	40681653	C	T	40681653	2	4	516	1	0	0	0	0	0	0	0	1	12745	489	17	2		2	PTGER4	5	40681653	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2246356	40681653	140233607	29	40745											
ITGA2	3673	broad.mit.edu	37	chr5	52355772	52355772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtccagaagacatctcaTggccatttgatctttcctaa	6	10	2	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:52355772T>C	ENST00000296585.5	+	11	1385	c.1242T>C	c.(1240-1242)caT>caC	p.H414H		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	414					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|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)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACATCTCATGGCCATTTGA	0.398																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1240-1242)caT>caC		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							91	86	88					5																	52355772		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52355772T>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1242T>C	5.37:g.52355772T>C							p.H414H	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			11	1385	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	414					Q14595	Silent	SNP	ENST00000296585.5	37	c.1242T>C	CCDS3957.1																																																																																				0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		27	40	0	0	0	1	0	27	40					C	52355772	T	C	52355772	2	2	516	1	0	0	0	0	0	0	0	1	7875	1461	51	3		3	ITGA2	5	52355772	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	11674119	52355772	128559488	30	40746											
BTNL3	10917	broad.mit.edu	37	chr5	180432371	180432371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagacggctcacccgaaGctctgcgtttctgatctgaa	10	13	4	3	rs559284545		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:180432371G>A	ENST00000342868.6	+	8	1084	c.900G>A	c.(898-900)aaG>aaA	p.K300K	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCACCCGAAGCTCTGCGTTT	0.532																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(898-900)aaG>aaA		butyrophilin-like 3							40	46	44					5																	180432371		2199	4277	6476	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180432371G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.900G>A	5.37:g.180432371G>A							p.K300K	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1084	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	300			B30.2/SPRY.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.900G>A	CCDS47358.1																																																																																				0.532	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		25	42	0	0	0	1	0	25	42					A	180432371	G	A	180432371	2	1	516	1	0	0	0	0	0	0	0	1	1566	962	34	2		2	BTNL3	5	180432371	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	128076599	180432371	482889	31	40747											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217213	26217213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccactatgtctggacGtggaaagcaaggcggcaaag	15	8	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:26217213G>T	ENST00000303910.2	+	1	49	c.11G>T	c.(10-12)cGt>cTt	p.R4L	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	4						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ATGTCTGGACGTGGAAAGCAA	0.493																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(10-12)cGt>cTt		histone cluster 1, H2ae							59	53	55					6																	26217213		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217213G>T	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"Histones / Replication-dependent"	4724	protein-coding gene	gene with protein product		602786	"H2A histone family, member A", "histone 1, H2ae"	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.11G>T	6.37:g.26217213G>T	ENSP00000303373:p.Arg4Leu						p.R4L	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	49	+		all_hematologic(11;0.196)	4					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.11G>T	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.285638	0.40394	.	.	ENSG00000168274	ENST00000303910	T	0.45276	0.9	4.08	4.08	0.47627	.	0.000000	0.33650	U	0.004682	T	0.58779	0.2146	M	0.84948	2.725	0.47153	D	0.999332	.	.	.	.	.	.	T	0.67929	-0.5543	8	0.87932	D	0	.	15.7958	0.78409	0.0:0.0:1.0:0.0	.	.	.	.	L	4	ENSP00000303373:R4L	ENSP00000303373:R4L	R	+	2	0	HIST1H2AE	26325192	0.999000	0.42202	0.999000	0.59377	0.777000	0.43975	9.349000	0.97066	2.267000	0.75376	0.655000	0.94253	CGT		0.493	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		3	55	1	0	1	1	1	3	55					T	26217213	G	T	26217213	3	4	516	1	0	0	0	0	1	0	0	0	7132	1145	40	4	13	4	HIST1H2AE	6	26217213	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		26217213	144897854	32	40748											
COL9A1	1297	broad.mit.edu	37	chr6	71004030	71004030	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatcatgatcttatgccacTgggaatcaaacaaggaggac	9	9	3	1	rs28483918		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:71004030T>A	ENST00000357250.6	-	5	694	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	179	Laminin G-like.|Nonhelical region (NC4).				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						CTTATGCCACTGGGAATCAAA	0.418																																						ENST00000357250.6																			0				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						c.(535-537)cAg>cTg		collagen, type IX, alpha 1							130	128	129					6																	71004030		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004030T>A		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.536A>T	6.37:g.71004030T>A	ENSP00000349790:p.Gln179Leu					COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			5	694	-			179			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.536A>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484079	0.44147	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.13420	4.22;2.59	5.77	3.4	0.38934	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.317354	0.31709	N	0.007188	T	0.06005	0.0156	L	0.52126	1.63	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.07712	-1.0758	10	0.62326	D	0.03	.	9.9111	0.41406	0.0:0.1398:0.0:0.8602	.	179	P20849	CO9A1_HUMAN	L	179	ENSP00000349790:Q179L;ENSP00000359527:Q179L	ENSP00000349790:Q179L	Q	-	2	0	COL9A1	71060751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.979000	0.49313	0.549000	0.28973	-0.274000	0.10170	CAG		0.418	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	115	0	0	0	1	0	4	115					A	71004030	T	A	71004030	3	1	516	1	0	0	0	0	1	0	0	0	3707	1580	55	5	2441	5	COL9A1	6	71004030	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	44786817	71004030	100111037	33	40749											
BCKDHB	594	broad.mit.edu	37	chr6	81053471	81053471	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttttgaaccattctacatcCcagacaaatggaagtgttat	6	8	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:81053471C>G	ENST00000320393.6	+	10	1176	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	377					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTCTACATCCCAGACAAATG	0.408																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(1129-1131)Cca>Gca		branched chain keto acid dehydrogenase E1, beta polypeptide							147	138	141					6																	81053471		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:81053471C>G	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.1129C>G	6.37:g.81053471C>G	ENSP00000318351:p.Pro377Ala					BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	p.P377A	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	10	1176	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	377					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.1129C>G	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776034	0.90195	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.94613	-3.47;-3.47	5.96	5.96	0.96718	Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98425	1.0579	10	0.72032	D	0.01	-4.9941	19.4074	0.94653	0.0:1.0:0.0:0.0	.	377	P21953	ODBB_HUMAN	A	377;377;307	ENSP00000318351:P377A;ENSP00000348880:P377A	ENSP00000318351:P377A	P	+	1	0	BCKDHB	81110190	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.374000	0.79633	2.831000	0.97527	0.650000	0.86243	CCA		0.408	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		19	76	0	0	0	1	0	19	76					G	81053471	C	G	81053471	3	3	516	1	0	0	0	0	1	0	0	0	1360	623	22	4	1167	4	BCKDHB	6	81053471	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	10049441	81053471	90061596	34	40750											
NR2E1	7101	broad.mit.edu	37	chr6	108492701	108492701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagtgtgtggcgaccGcagctcggggaagcactacg	15	11	0	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:108492701G>A	ENST00000368986.4	+	2	773	c.65G>A	c.(64-66)cGc>cAc	p.R22H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	22					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)			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)		TGTGGCGACCGCAGCTCGGGG	0.572																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(64-66)cGc>cAc		nuclear receptor subfamily 2, group E, member 1							127	136	133					6																	108492701		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492701G>A	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.65G>A	6.37:g.108492701G>A	ENSP00000357982:p.Arg22His					NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	p.R22H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	773	+		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)	22					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.65G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452607	0.63290	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97328	-4.34;-4.34	5.32	5.32	0.75619	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	L	0.35644	1.08	0.80722	D	1	B	0.27286	0.174	B	0.28139	0.086	D	0.90430	0.4423	10	0.28530	T	0.3	.	18.607	0.91270	0.0:0.0:1.0:0.0	.	22	Q9Y466	NR2E1_HUMAN	H	22;59	ENSP00000357982:R22H;ENSP00000357979:R59H	ENSP00000357979:R59H	R	+	2	0	NR2E1	108599394	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.501000	0.84356	0.655000	0.94253	CGC		0.572	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			5	117	0	0	0	1	0	5	117					A	108492701	G	A	108492701	3	1	516	1	0	0	0	0	1	0	0	0	10625	1087	38	1	71	1	NR2E1	6	108492701	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	27439230	108492701	62622366	35	40751											
GPRC6A	222545	broad.mit.edu	37	chr6	117130560	117130560	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctatgacagccttaactcTtggcatgtagctggaatagt	9	9	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:117130560T>C	ENST00000310357.3	-	2	436	c.415A>G	c.(415-417)Aga>Gga	p.R139G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	139					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)		GCCTTAACTCTTGGCATGTAG	0.448																																						ENST00000310357.3																			0				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						c.(415-417)Aga>Gga		G protein-coupled receptor, family C, group 6, member A							96	91	93					6																	117130560		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130560T>C	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.415A>G	6.37:g.117130560T>C	ENSP00000309493:p.Arg139Gly					GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G	p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	436	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	139					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.415A>G	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.563195	0.65538	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.84370	-1.84;-1.84;-1.84	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.062950	0.64402	D	0.000012	D	0.86230	0.5883	L	0.55834	1.745	0.27140	N	0.961687	D;D;D	0.76494	0.98;0.999;0.97	P;D;P	0.71656	0.795;0.974;0.872	T	0.80549	-0.1333	10	0.41790	T	0.15	.	14.62	0.68576	0.0:0.0:0.0:1.0	.	139;139;139	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	G	139	ENSP00000309493:R139G;ENSP00000357537:R139G;ENSP00000433465:R139G	ENSP00000309493:R139G	R	-	1	2	GPRC6A	117237253	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.552000	0.60747	2.047000	0.60756	0.477000	0.44152	AGA		0.448	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			6	72	0	0	0	1	0	6	72					C	117130560	T	C	117130560	3	2	516	1	0	0	0	0	1	0	0	0	6728	1617	56	3	2385	3	GPRC6A	6	117130560	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	8637859	117130560	53984507	36	40752											
NPSR1	387129	broad.mit.edu	37	chr7	34888182	34888182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccaggagcgtttctatgCctctgtgatcattcagaacc	8	13	4	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:34888182C>A	ENST00000360581.1	+	8	1060	c.932C>A	c.(931-933)gCc>gAc	p.A311D	NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	311						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)	CGTTTCTATGCCTCTGTGATC	0.498																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(931-933)gCc>gAc		neuropeptide S receptor 1	Halothane(DB01159)						228	220	223					7																	34888182		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888182C>A	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.932C>A	7.37:g.34888182C>A	ENSP00000353788:p.Ala311Asp					NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D	p.A311D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			8	1060	+			311					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.932C>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554616	0.86231	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.62122	0.2402	M	0.74467	2.265	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.984;0.998;0.983;0.984;0.987	T	0.64571	-0.6376	10	0.66056	D	0.02	-28.5659	17.9508	0.89052	0.0:1.0:0.0:0.0	.	245;300;245;311;311;311	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	D	311;245;311;300;311;114	ENSP00000353788:A311D;ENSP00000370953:A245D;ENSP00000352839:A311D;ENSP00000433258:A300D;ENSP00000370950:A311D	ENSP00000334093:A114D	A	+	2	0	NPSR1	34854707	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.284000	0.65627	2.713000	0.92767	0.655000	0.94253	GCC		0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		15	220	1	0	3.27435e-08	1	3.62404e-08	15	220					A	34888182	C	A	34888182	3	1	516	1	0	0	0	0	1	0	0	0	10600	739	26	4	962	4	NPSR1	7	34888182	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		34888182	124250481	37	40753											
TXNDC3	51314	broad.mit.edu	37	chr7	37889884	37889884	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaatggcaagcaaaaaaCgagaagtccagttacaggtg	11	6	0	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:37889884C>T	ENST00000199447.4	+	3	388	c.16C>T	c.(16-18)Cga>Tga	p.R6*	NME8_ENST00000440017.1_Nonsense_Mutation_p.R6*|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	6	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)	p.R6*(1)									AAGCAAAAAACGAGAAGTCCA	0.333																																						ENST00000199447.4																			1	Substitution - Nonsense(1)	p.R6*(1)	central_nervous_system(1)								c.(16-18)Cga>Tga		NME/NM23 family member 8							178	186	183					7																	37889884		2203	4300	6503	SO:0001587	stop_gained	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37889884C>T	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.16C>T	7.37:g.37889884C>T	ENSP00000199447:p.Arg6*					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Nonsense_Mutation_p.R6*	p.R6*	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			3	388	+			6			Thioredoxin.		Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.16C>T	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375862	0.95923	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	.	.	.	5.12	0.691	0.18045	.	2.820870	0.03182	N	0.172170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3254	6.9338	0.24455	0.5973:0.3108:0.0:0.092	.	.	.	.	X	6	.	ENSP00000199447:R6X	R	+	1	2	TXNDC3	37856409	1.000000	0.71417	0.986000	0.45419	0.469000	0.32828	0.940000	0.28992	0.188000	0.20168	-0.310000	0.09108	CGA		0.333	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		10	181	0	0	0	1	0	10	181					T	37889884	C	T	37889884	4	4	516	1	0	0	0	0	0	1	0	0	16795	528	19	1	18	1	TXNDC3	7	37889884	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3001702	37889884	121248779	38	40754											
MDFIC	29969	broad.mit.edu	37	chr7	114619720	114619720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatcgcaaactttcagcacCtgtttctcaaaaaatgcata	4	10	2	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:114619720C>A	ENST00000393486.1	+	4	967	c.377C>A	c.(376-378)cCt>cAt	p.P126H	MDFIC_ENST00000257724.3_Missense_Mutation_p.P235H	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTTTCAGCACCTGTTTCTCAA	0.423																																						ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(703-705)cCt>cAt		MyoD family inhibitor domain containing							88	89	89					7																	114619720		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114619720C>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.377C>A	7.37:g.114619720C>A	ENSP00000377126:p.Pro126His					MDFIC_ENST00000393486.1_Missense_Mutation_p.P126H	p.P235H			Q9P1T7	MDFIC_HUMAN			4	967	+			126			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.704C>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793833	0.90453	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.98	0.97165	.	0.122605	0.53938	D	0.000041	D	0.83543	0.5277	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83900	0.0289	9	0.72032	D	0.01	2.1923	20.452	0.99131	0.0:1.0:0.0:0.0	.	126	Q9P1T7	MDFIC_HUMAN	H	235;126;112;71	.	ENSP00000257724:P235H	P	+	2	0	MDFIC	114406956	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.317000	0.72862	2.838000	0.97847	0.591000	0.81541	CCT		0.423	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		14	54	1	0	9.31168e-06	1	1.0207e-05	14	54					A	114619720	C	A	114619720	3	1	516	1	0	0	0	0	1	0	0	0	9405	681	24	4	760	4	MDFIC	7	114619720	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	76729836	114619720	44518943	39	40755											
C7orf58	79974	broad.mit.edu	37	chr7	120740100	120740100	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgcgtgcattcattcattcGacgggcacagtttggaatcc	10	10	2	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:120740100G>T	ENST00000310396.5	+	7	1337	c.870G>T	c.(868-870)tcG>tcT	p.S290S	CPED1_ENST00000450913.2_Silent_p.S290S|CPED1_ENST00000423795.1_Silent_p.S70S	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	290						endoplasmic reticulum (GO:0005783)		p.S290S(1)									TCATTCATTCGACGGGCACAG	0.423																																						ENST00000310396.5																			1	Substitution - coding silent(1)	p.S290S(1)	urinary_tract(1)								c.(868-870)tcG>tcT		cadherin-like and PC-esterase domain containing 1							150	129	136					7																	120740100		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120740100G>T		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.870G>T	7.37:g.120740100G>T						CPED1_ENST00000450913.2_Silent_p.S290S|CPED1_ENST00000423795.1_Silent_p.S70S	p.S290S	NM_024913.4	NP_079189.4					7	1337	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.870G>T	CCDS34739.1																																																																																				0.423	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		21	68	1	0	3.62473e-10	1	4.09128e-10	21	68					T	120740100	G	T	120740100	2	4	516	1	0	0	0	0	0	0	0	1	2405	1045	37	4		4	C7orf58	7	120740100	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	6120380	120740100	38398563	40	40756											
TAS2R16	50833	broad.mit.edu	37	chr7	122635208	122635208	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttacagtgctgtttcttgGtagatgctccatggtgagta	12	6	1	2	rs28371576	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:122635208G>T	ENST00000249284.2	-	1	546	c.481C>A	c.(481-483)Cca>Aca	p.P161T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	161					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTTTCTTGGTAGATGCTCC	0.393																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(481-483)Cca>Aca		taste receptor, type 2, member 16							166	154	158					7																	122635208		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635208G>T	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.481C>A	7.37:g.122635208G>T	ENSP00000249284:p.Pro161Thr						p.P161T	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	546	-			161					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.481C>A	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311675	0.23821	.	.	ENSG00000128519	ENST00000249284	T	0.00711	5.8	4.56	-2.76	0.05896	.	0.946694	0.08735	N	0.901497	T	0.00998	0.0033	L	0.51422	1.61	0.09310	N	1	P	0.46578	0.88	P	0.48334	0.574	T	0.39643	-0.9604	10	0.17832	T	0.49	.	1.3722	0.02213	0.4011:0.1415:0.3133:0.1441	.	161	Q9NYV7	T2R16_HUMAN	T	161	ENSP00000249284:P161T	ENSP00000249284:P161T	P	-	1	0	TAS2R16	122422444	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.609000	0.05635	-0.501000	0.06605	0.655000	0.94253	CCA		0.393	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		7	139	1	0	0.0293803	1	0.0301744	7	139					T	122635208	G	T	122635208	3	4	516	1	0	0	0	0	1	0	0	0	15566	1261	44	4	398	4	TAS2R16	7	122635208	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	1895108	122635208	36503455	41	40757											
FLNC	2318	broad.mit.edu	37	chr7	128493627	128493627	+	Frame_Shift_Del	DEL	C	C	-													tcacctactgccccaccgagCccggcacctacatcatcaac							TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:128493627delC	ENST00000325888.8	+	38	6574	c.6313delC	c.(6313-6315)cccfs	p.P2105fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2105					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						CCCCACCGAGCCCGGCACCTA	0.592																																						ENST00000325888.8																			0				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						c.(6313-6315)ccfs		filamin C, gamma							100	108	105					7																	128493627		2066	4204	6270	SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493627delC	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.6313delC	7.37:g.128493627delC	ENSP00000327145:p.Pro2105fs					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs	p.P2105fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			38	6574	+			2105					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	c.6313delC	CCDS43644.1																																																																																				0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			13	40						13	40	---	---	---	---	-	128493627	C	-	128493627	7	5	516	1	0	1	0	1	0	0	0	0	5935	739	26	0	6463	0	FLNC	7	128493627	Frame_Shift_Del	DEL	C	TCGA-WY-A85E-01A-11D-A36O-08	5858419	128493627	30645036	42	40758											
NEFM	4741	broad.mit.edu	37	chr8	24775141	24775141	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaagaaagtggaggaaaaGagtgaggaagtggctaccaa	15	3	0	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:24775141G>T	ENST00000221166.5	+	3	2555	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N	NEFM_ENST00000518131.1_Intron|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	591	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tggaggaaaagagtgaggaag	0.488																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1771-1773)aaG>aaT		neurofilament, medium polypeptide							38	43	41					8																	24775141		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775141G>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1773G>T	8.37:g.24775141G>T	ENSP00000221166:p.Lys591Asn					NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N|NEFM_ENST00000521540.1_Intron	p.K591N			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2555	+		Prostate(55;0.157)	591			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1773G>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	3.372	-0.128239	0.06753	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.95656	-1.93;-1.94;-3.77	4.24	3.36	0.38483	.	0.000000	0.47852	D	0.000218	D	0.93844	0.8031	M	0.78916	2.43	0.22081	N	0.999375	P	0.43477	0.808	B	0.42282	0.382	D	0.86612	0.1873	10	0.30854	T	0.27	.	7.8593	0.29501	0.199:0.0:0.801:0.0	.	591	P07197	NFM_HUMAN	N	591;591;215	ENSP00000221166:K591N;ENSP00000410137:K591N;ENSP00000412295:K215N	ENSP00000221166:K591N	K	+	3	2	NEFM	24831046	0.022000	0.18835	0.057000	0.19452	0.659000	0.38960	0.586000	0.23894	0.760000	0.33108	0.313000	0.20887	AAG		0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		4	22	1	0	0.00909568	1	0.00951291	4	22					T	24775141	G	T	24775141	3	4	516	1	0	0	0	0	1	0	0	0	10316	933	33	4	1783	4	NEFM	8	24775141	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		24775141	121588881	43	40759											
TACC1	6867	broad.mit.edu	37	chr8	38646271	38646271	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctgaaaccccgatcCgatcacctttcaaggagtcc	8	14	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:38646271C>T	ENST00000317827.4	+	2	590	c.211C>T	c.(211-213)Cga>Tga	p.R71*	TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000379931.3_Nonsense_Mutation_p.R71*	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	71					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)			AACCCCGATCCGATCACCTTT	0.463																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(211-213)Cga>Tga		transforming, acidic coiled-coil containing protein 1							69	67	68					8																	38646271		2203	4300	6503	SO:0001587	stop_gained	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38646271C>T	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.211C>T	8.37:g.38646271C>T	ENSP00000321703:p.Arg71*					TACC1_ENST00000330691.6_Intron|TACC1_ENST00000317827.4_Nonsense_Mutation_p.R71*|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*	p.R71*			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		2	590	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	71					B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Nonsense_Mutation	SNP	ENST00000317827.4	37	c.211C>T	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	37	6.432405	0.97564	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000524354;ENST00000317827;ENST00000379931	.	.	.	5.41	1.79	0.24919	.	0.327932	0.27302	N	0.019982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.0809	4.2246	0.10574	0.2829:0.5121:0.0861:0.1189	.	.	.	.	X	87;26;43;71;71;71	.	ENSP00000321703:R71X	R	+	1	2	TACC1	38765428	0.958000	0.32768	0.891000	0.34965	0.340000	0.28889	0.793000	0.26944	0.356000	0.24157	-0.397000	0.06425	CGA		0.463	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		8	21	0	0	0	1	0	8	21					T	38646271	C	T	38646271	4	4	516	1	0	0	0	0	0	1	0	0	15498	644	23	1	217	1	TACC1	8	38646271	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	13871130	38646271	107717751	44	40760											
TRPA1	8989	broad.mit.edu	37	chr8	72970013	72970013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgctaatataagtggAgagcgtccttcagaatcgat	11	7	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:72970013A>G	ENST00000262209.4	-	9	1239	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	344					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATATAAGTGGAGAGCGTCCTT	0.353																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1030-1032)tcT>tcC		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						101	100	100					8																	72970013		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72970013A>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1032T>C	8.37:g.72970013A>G							p.S344S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		9	1239	-			344					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.1032T>C	CCDS34908.1																																																																																				0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		18	34	0	0	0	1	0	18	34					G	72970013	A	G	72970013	2	3	516	1	0	0	0	0	0	0	0	1	16574	291	11	3		3	TRPA1	8	72970013	Silent	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	34323742	72970013	73394009	45	40761											
ESRP1	54845	broad.mit.edu	37	chr8	95683729	95683729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcattccacttccaacccctCccattattccagtactacct	1	18	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:95683729C>A	ENST00000433389.2	+	11	1472	c.1282C>A	c.(1282-1284)Ccc>Acc	p.P428T	ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	428					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						TCCAACCCCTCCCATTATTCC	0.478																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1282-1284)Ccc>Acc		epithelial splicing regulatory protein 1							117	114	115					8																	95683729		1902	4127	6029	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683729C>A	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.1282C>A	8.37:g.95683729C>A	ENSP00000405738:p.Pro428Thr					ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T	p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			11	1472	+			428					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1282C>A	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.194649|4.194649	0.78902|0.78902	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.14144|.	2.71;2.71;2.71;2.74;2.53|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72431|0.72431	0.3459|0.3459	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;P;P;P;D|.	0.76494|.	0.999;0.986;0.929;0.942;0.729;0.99|.	D;D;P;P;P;P|.	0.73380|.	0.98;0.918;0.771;0.562;0.544;0.831|.	T|T	0.70077|0.70077	-0.4971|-0.4971	10|5	0.25106|.	T|.	0.35|.	-12.0326|-12.0326	18.9087|18.9087	0.92474|0.92474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	428;428;428;428;428;428|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|Y	428;428;428;428;287|293	ENSP00000407349:P428T;ENSP00000405738:P428T;ENSP00000351168:P428T;ENSP00000402766:P428T;ENSP00000429125:P287T|.	ENSP00000351168:P428T|.	P|S	+|+	1|2	0|0	ESRP1|ESRP1	95752905|95752905	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.967000|2.967000	0.49216|0.49216	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.478	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		18	36	1	0	1.22574e-08	1	1.36994e-08	18	36					A	95683729	C	A	95683729	3	1	516	1	0	0	0	0	1	0	0	0	5258	855	30	4	1324	4	ESRP1	8	95683729	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	22713716	95683729	50680293	46	40762											
GABBR2	9568	broad.mit.edu	37	chr9	101056066	101056066	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaggagaaggtacttaCtgttctggagagtttatatc	10	6	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:101056066C>A	ENST00000259455.2	-	18	3120		c.e18+1			NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2						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)	AAGGTACTTACTGTTCTGGAG	0.378																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.e18+1		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						200	194	196					9																	101056066		2203	4300	6503	SO:0001630	splice_region_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101056066C>A	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.2660+1G>T	9.37:g.101056066C>A								NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			18	3120	-		Acute lymphoblastic leukemia(62;0.0527)						O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Splice_Site	SNP	ENST00000259455.2	37		CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571526	0.86542	.	.	ENSG00000136928	ENST00000259455	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1967	0.65675	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABBR2	100095887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.156000	0.77453	2.728000	0.93425	0.650000	0.86243	.		0.378	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		Intron	34	121	1	0	4.62619e-21	1	5.43696e-21	34	121					A	101056066	C	A	101056066	5	1	516	1	0	0	0	0	0	0	1	0	6156	579	20	4	172	4	GABBR2	9	101056066	Splice_Site	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		101056066	40157365	47	40763											
C9orf116	138162	broad.mit.edu	37	chr9	138391685	138391685	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgcacgctctggggcAttcctcagccattgtgcctg	11	16	2	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:138391685A>G	ENST00000429260.2	-	1	33	c.13T>C	c.(13-15)Tgc>Cgc	p.C5R	C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000371789.3_Missense_Mutation_p.C5R|MRPS2_ENST00000241600.5_5'Flank|MRPS2_ENST00000371785.1_5'Flank	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	5															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCTCTGGGGCATTCCTCAGCC	0.706																																						ENST00000371789.3																			0											c.(13-15)Tgc>Cgc		chromosome 9 open reading frame 116							9	11	10					9																	138391685		2176	4275	6451	SO:0001583	missense	138162							g.chr9:138391685A>G	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"p53-induced expression 1 in Rb&#8722;/&#8722; cells"	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.13T>C	9.37:g.138391685A>G	ENSP00000395281:p.Cys5Arg					C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000429260.2_Missense_Mutation_p.C5R	p.C5R			Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	1	679	-			5					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.13T>C	CCDS43899.1	.	.	.	.	.	.	.	.	.	.	A	9.866	1.197548	0.22037	.	.	ENSG00000160345	ENST00000429260;ENST00000371789;ENST00000371791	.	.	.	3.79	-5.8	0.02347	.	3.886250	0.00447	N	0.000086	T	0.14141	0.0342	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	0.09952	-1.0651	9	0.15066	T	0.55	-0.684	1.205	0.01893	0.1286:0.2281:0.2567:0.3866	.	5;5	Q5BN46;Q5BN46-2	CI116_HUMAN;.	R	5	.	ENSP00000360854:C5R	C	-	1	0	C9orf116	137531506	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.145000	0.03194	-0.802000	0.04421	-0.384000	0.06662	TGC		0.706	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		5	11	0	0	0	1	0	5	11					G	138391685	A	G	138391685	3	3	516	1	0	0	0	0	1	0	0	0	2450	217	8	3	409	3	C9orf116	9	138391685	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	37335619	138391685	2821746	48	40764											
ANXA11	311	broad.mit.edu	37	chr10	81921729	81921729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgggagcacagaaccGcattgaacttggactcgtct	12	12	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:81921729G>A	ENST00000438331.1	-	13	1624	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	381					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)			GCACAGAACCGCATTGAACTT	0.627											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1141-1143)gCg>gTg		annexin A11							63	63	63					10																	81921729		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81921729G>A	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.1142C>T	10.37:g.81921729G>A	ENSP00000398610:p.Ala381Val		OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1210	ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V	p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		13	1624	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		381					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1142C>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930914|3.930914	0.73327|0.73327	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000372219|ENST00000447489	T;T;T;T;T;T;T|.	0.03358|.	3.96;3.96;3.96;3.96;3.96;3.96;3.96|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Annexin repeat, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61874|0.61874	0.2382|0.2382	L|L	0.45285|0.45285	1.41|1.41	0.58432|0.58432	D|D	0.999998|0.999998	P;P;P|.	0.52061|.	0.95;0.867;0.867|.	P;P;P|.	0.50537|.	0.564;0.643;0.643|.	T|T	0.58036|0.58036	-0.7707|-0.7707	10|5	0.23891|.	T|.	0.37|.	.|.	16.3313|16.3313	0.83015|0.83015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	481;381;381|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	V|W	381;381;381;381;381;381;381;288;348;28|14	ENSP00000361305:A381V;ENSP00000404412:A381V;ENSP00000398610:A381V;ENSP00000353827:A381V;ENSP00000265447:A381V;ENSP00000441748:A381V;ENSP00000441400:A348V|.	ENSP00000265447:A381V|.	A|R	-|-	2|1	0|2	ANXA11|ANXA11	81911709|81911709	1.000000|1.000000	0.71417|0.71417	0.859000|0.859000	0.33776|0.33776	0.888000|0.888000	0.51559|0.51559	6.487000|6.487000	0.73633|0.73633	2.549000|2.549000	0.85964|0.85964	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.627	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		5	46	0	0	0	1	0	5	46					A	81921729	G	A	81921729	3	1	516	1	0	0	0	0	1	0	0	0	716	1087	38	1	395	1	ANXA11	10	81921729	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		81921729	53613018	49	40765											
DYDC2	84332	broad.mit.edu	37	chr10	82122275	82122275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtggcgaaggttcggCccagtgacccaatagaatac	13	10	0	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:82122275C>T	ENST00000372199.1	+	4	674	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	26										breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAGGTTCGGCCCAGTGACCC	0.498																																						ENST00000372199.1																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(76-78)Ccc>Tcc		DPY30 domain containing 2							74	73	74					10																	82122275		2203	4300	6503	SO:0001583	missense	84332						protein binding	g.chr10:82122275C>T	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.76C>T	10.37:g.82122275C>T	ENSP00000361273:p.Pro26Ser					DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S	p.P26S			Q96IM9	DYDC2_HUMAN	Colorectal(32;0.229)		4	674	+			26					D3DWD6|Q5QP07|Q5QP11	Missense_Mutation	SNP	ENST00000372199.1	37	c.76C>T	CCDS7367.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182960	0.78677	.	.	ENSG00000133665	ENST00000372199;ENST00000372198;ENST00000372197;ENST00000444807;ENST00000411538;ENST00000256039	D;D;D;D;D	0.87571	-2.17;-2.27;-2.17;-2.17;-2.17	5.54	5.54	0.83059	Dpy-30 motif (1);	0.000000	0.48767	D	0.000168	D	0.95755	0.8619	H	0.96861	3.895	0.38904	D	0.95739	D	0.89917	1.0	D	0.97110	1.0	D	0.97421	1.0009	10	0.87932	D	0	-14.3373	15.3403	0.74290	0.0:1.0:0.0:0.0	.	26	Q96IM9	DYDC2_HUMAN	S	26;40;26;26;26;26	ENSP00000361273:P26S;ENSP00000361272:P40S;ENSP00000361271:P26S;ENSP00000410285:P26S;ENSP00000256039:P26S	ENSP00000256039:P26S	P	+	1	0	DYDC2	82112255	0.996000	0.38824	0.996000	0.52242	0.697000	0.40408	4.858000	0.62947	2.779000	0.95612	0.591000	0.81541	CCC		0.498	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372		29	32	0	0	0	1	0	29	32					T	82122275	C	T	82122275	3	4	516	1	0	0	0	0	1	0	0	0	4839	739	26	2	78	2	DYDC2	10	82122275	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	200546	82122275	53412472	50	40766											
HPSE2	60495	broad.mit.edu	37	chr10	100453669	100453669	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atacctactgttgccaggtaActgcatctactgtacttcct	6	12	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:100453669A>T	ENST00000370552.3	-	6	1051	c.992T>A	c.(991-993)gTt>gAt	p.V331D	HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D|HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	331					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)		TTGCCAGGTAACTGCATCTAC	0.343																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(991-993)gTt>gAt		heparanase 2							148	141	143					10																	100453669		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100453669A>T	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.992T>A	10.37:g.100453669A>T	ENSP00000359583:p.Val331Asp					HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D|HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D	p.V331D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	6	1051	-			331					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.992T>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249022	0.80024	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.84	5.84	0.93424	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.69078	0.991;0.993;0.996;0.997	P;P;D;D	0.67382	0.783;0.899;0.918;0.951	T	0.61773	-0.6994	10	0.72032	D	0.01	-8.4434	14.161	0.65446	1.0:0.0:0.0:0.0	.	219;331;273;331	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	D	331;273;331;219	ENSP00000359583:V331D;ENSP00000359580:V273D;ENSP00000359577:V331D;ENSP00000384384:V219D	ENSP00000359577:V331D	V	-	2	0	HPSE2	100443659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	2.230000	0.72887	0.528000	0.53228	GTT		0.343	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		23	34	0	0	0	1	0	23	34					T	100453669	A	T	100453669	3	4	516	1	0	0	0	0	1	0	0	0	7345	43	2	5	852	5	HPSE2	10	100453669	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	18331394	100453669	35081078	51	40767											
OR51M1	390059	broad.mit.edu	37	chr11	5411068	5411068	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgaggtattcggtcaTtatcactggccagcaagtgg	11	11	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5411068T>C	ENST00000328611.3	+	1	462	c.440T>C	c.(439-441)aTt>aCt	p.I147T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	147					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)		TATTCGGTCATTATCACTGGC	0.527																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(439-441)aTt>aCt		olfactory receptor, family 51, subfamily M, member 1							208	202	204					11																	5411068		2056	4232	6288	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411068T>C	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.440T>C	11.37:g.5411068T>C	ENSP00000333196:p.Ile147Thr					HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.I147T	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	462	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	147					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.440T>C	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547838	0.45383	.	.	ENSG00000184698	ENST00000328611	T	0.21191	2.02	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34178	U	0.004186	T	0.41719	0.1171	M	0.77616	2.38	0.38261	D	0.941874	D	0.57899	0.981	P	0.56343	0.796	T	0.52155	-0.8613	10	0.87932	D	0	.	13.7653	0.62990	0.0:0.0:0.0:1.0	.	136	Q9H341	O51M1_HUMAN	T	147	ENSP00000333196:I147T	ENSP00000333196:I147T	I	+	2	0	OR51M1	5367644	0.836000	0.29430	0.981000	0.43875	0.096000	0.18686	5.517000	0.67061	2.121000	0.65114	0.533000	0.62120	ATT		0.527	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		21	123	0	0	0	1	0	21	123					C	5411068	T	C	5411068	3	2	516	1	0	0	0	0	1	0	0	0	11103	1493	52	3	442	3	OR51M1	11	5411068	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		5411068	129595448	52	40768											
TRIM22	10346	broad.mit.edu	37	chr11	5729464	5729464	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaactaaagagtgtattcCgagtaccagatctgagtggg	12	6	1	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5729464C>T	ENST00000379965.3	+	6	1112	c.835C>T	c.(835-837)Cga>Tga	p.R279*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	279					defense response to virus (GO:0051607)|immune response (GO:0006955)|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)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAGTGTATTCCGAGTACCAGA	0.418																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(835-837)Cga>Tga		tripartite motif containing 22							125	117	120					11																	5729464		1883	4133	6016	SO:0001587	stop_gained	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5729464C>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.835C>T	11.37:g.5729464C>T	ENSP00000369299:p.Arg279*					TRIM5_ENST00000380027.1_Intron	p.R279*	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	6	1112	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	279					Q05CQ0|Q15521	Nonsense_Mutation	SNP	ENST00000379965.3	37	c.835C>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645579	0.47258	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293;ENST00000450670	.	.	.	4.06	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7882	0.52055	0.3135:0.6865:0.0:0.0	.	.	.	.	X	279;90;247;201;29	.	ENSP00000369299:R279X	R	+	1	2	TRIM22	5686040	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.378000	0.07446	0.106000	0.17784	-2.051000	0.00406	CGA		0.418	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		6	33	0	0	0	1	0	6	33					T	5729464	C	T	5729464	4	4	516	1	0	0	0	0	0	1	0	0	16493	644	23	1	853	1	TRIM22	11	5729464	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	318396	5729464	129277052	53	40769											
OR9Q2	219957	broad.mit.edu	37	chr11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcccacctcactgccGtcgctcttttctttggcacc	7	19	3	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248I(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)				CCTCACTGCCGTCGCTCTTTT	0.577																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.V248I(1)	lung(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						c.(742-744)Gtc>Atc		olfactory receptor, family 9, subfamily Q, member 2							129	110	117					11																	57958704		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958704G>A	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.742G>A	11.37:g.57958704G>A	ENSP00000308714:p.Val248Ile						p.V248I	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	799	+		Breast(21;0.0589)	248						Missense_Mutation	SNP	ENST00000311591.3	37	c.742G>A	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586121	0.28268	.	.	ENSG00000186513	ENST00000311591	T	0.00340	8.04	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.170594	0.27715	N	0.018144	T	0.00815	0.0027	M	0.81614	2.55	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.39881	-0.9592	10	0.56958	D	0.05	-21.5191	13.3599	0.60650	0.0759:0.0:0.9241:0.0	.	248	Q8NGE9	OR9Q2_HUMAN	I	248	ENSP00000308714:V248I	ENSP00000308714:V248I	V	+	1	0	OR9Q2	57715280	0.993000	0.37304	0.076000	0.20297	0.049000	0.14656	2.377000	0.44300	1.514000	0.48869	-0.126000	0.14955	GTC		0.577	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		4	83	0	0	0	1	0	4	83					A	57958704	G	A	57958704	3	1	516	1	0	0	0	0	1	0	0	0	11256	1145	40	1	744	1	OR9Q2	11	57958704	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	52229240	57958704	77047812	54	40770											
TMEM134	80194	broad.mit.edu	37	chr11	67234993	67234993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaggtgttgtaggagCgctgggtgctgctgctgatg	18	7	0	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:67234993C>T	ENST00000308022.2	-	3	349	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H|TMEM134_ENST00000393877.3_Missense_Mutation_p.R103H	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	103						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTTGTAGGAGCGCTGGGTGCT	0.682																																						ENST00000393877.3																			0				endometrium(1)|lung(1)	2						c.(307-309)cGc>cAc		transmembrane protein 134							59	57	58					11																	67234993		2200	4295	6495	SO:0001583	missense	80194					integral to membrane		g.chr11:67234993C>T	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.308G>A	11.37:g.67234993C>T	ENSP00000312615:p.Arg103His					TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000308022.2_Missense_Mutation_p.R103H|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H	p.R103H	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN			3	365	-			103					Q08AK4|Q6PJN3	Missense_Mutation	SNP	ENST00000308022.2	37	c.308G>A	CCDS8167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.437256|2.437256	0.43224|0.43224	.|.	.|.	ENSG00000172663|ENSG00000172663	ENST00000544903|ENST00000393877;ENST00000308022;ENST00000452789	.|.	.|.	.|.	3.94|3.94	3.94|3.94	0.45596|0.45596	.|.	.|0.341198	.|0.21397	.|N	.|0.075210	T|T	0.53318|0.53318	0.1789|0.1789	L|L	0.43152|0.43152	1.355|1.355	0.24531|0.24531	N|N	0.994117|0.994117	D;D|D;D;D;D	0.89917|0.89917	1.0;1.0|0.999;0.999;0.999;1.0	D;D|D;D;D;D	0.66602|0.83275	0.945;0.92|0.994;0.989;0.984;0.996	T|T	0.37865|0.37865	-0.9687|-0.9687	8|9	0.72032|0.44086	D|T	0.01|0.13	.|.	11.3339|11.3339	0.49492|0.49492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	98;107|94;103;103;103	B4E0E3;G3V1M5|B4DLG6;Q9H6X4-3;Q9H6X4-2;Q9H6X4	.;.|.;.;.;TM134_HUMAN	T|H	107|103;103;94	.|.	ENSP00000440630:A98T|ENSP00000312615:R103H	A|R	-|-	1|2	0|0	TMEM134|TMEM134	66991569|66991569	0.838000|0.838000	0.29461|0.29461	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	0.025000|0.025000	0.13577|0.13577	2.050000|2.050000	0.60909|0.60909	0.289000|0.289000	0.19496|0.19496	GCT|CGC		0.682	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		15	45	0	0	0	1	0	15	45					T	67234993	C	T	67234993	3	4	516	1	0	0	0	0	1	0	0	0	16047	768	27	1	299	1	TMEM134	11	67234993	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	9276289	67234993	67771523	55	40771											
CHRDL2	25884	broad.mit.edu	37	chr11	74441896	74441896	+	Frame_Shift_Del	DEL	C	C	-													ggaaccagagcagcgcgagtCccagcaaggaggagaggacc							TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:74441896delC	ENST00000376332.3	-	1	534	c.38delG	c.(37-39)ggafs	p.G13fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	13					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGCGCGAGTCCCAGCAAGGA	0.662																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(37-39)gafs		chordin-like 2							56	45	49					11																	74441896		2198	4292	6490	SO:0001589	frameshift_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74441896delC	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.38delG	11.37:g.74441896delC	ENSP00000365510:p.Gly13fs					CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs	p.G13fs	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			1	534	-	Hepatocellular(1;0.098)		13					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Frame_Shift_Del	DEL	ENST00000376332.3	37	c.38delG																																																																																					0.662	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			2	4						2	4	---	---	---	---	-	74441896	C	-	74441896	7	5	516	1	0	1	0	1	0	0	0	0	3374	855	30	0	1365	0	CHRDL2	11	74441896	Frame_Shift_Del	DEL	C	TCGA-WY-A85E-01A-11D-A36O-08	7206903	74441896	60564620	56	40772											
EFCAB4B	84766	broad.mit.edu	37	chr12	3806033	3806033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgactagctggcccgacgTttgctcctgagtctccttct	9	14	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:3806033T>C	ENST00000252322.1	-	4	601	c.133A>G	c.(133-135)Acg>Gcg	p.T45A	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.T45A	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		45					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCCCGACGTTTGCTCCTGA	0.592																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(133-135)Acg>Gcg		EF-hand calcium binding domain 4B							116	80	92					12																	3806033		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3806033T>C																												ENST00000252322.1:c.133A>G	12.37:g.3806033T>C	ENSP00000252322:p.Thr45Ala					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A	p.T45A	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		4	606	-			45					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.133A>G	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	0.325	-0.959499	0.02267	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.60299	0.2;2.65;2.66	5.57	-0.00648	0.14013	.	1.809020	0.02645	N	0.105726	T	0.20820	0.0501	N	0.00436	-1.5	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	0.27262	-1.0079	10	0.09084	T	0.74	0.8192	4.1924	0.10428	0.1497:0.4772:0.0:0.3731	.	45;45;45	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	A	45	ENSP00000409382:T45A;ENSP00000412496:T45A;ENSP00000252322:T45A	ENSP00000252322:T45A	T	-	1	0	EFCAB4B	3676294	0.022000	0.18835	0.001000	0.08648	0.004000	0.04260	0.340000	0.19892	-0.256000	0.09473	-0.187000	0.12897	ACG		0.592	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			3	61	0	0	0	1	0	3	61					C	3806033	T	C	3806033	3	2	516	1	0	0	0	0	1	0	0	0	4937	1725	60	3	2322	3	EFCAB4B	12	3806033	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		3806033	130045862	57	40773											
SLC6A15	55117	broad.mit.edu	37	chr12	85257323	85257323	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatatatttccacatAtagtagtaatatctgctggg	9	5	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:85257323A>T	ENST00000266682.5	-	11	2254	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*	SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	571					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTTCCACATATAGTAGTAAT	0.323																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1711-1713)taT>taA		solute carrier family 6 (neutral amino acid transporter), member 15							58	63	61					12																	85257323		2203	4292	6495	SO:0001587	stop_gained	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85257323A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1713T>A	12.37:g.85257323A>T	ENSP00000266682:p.Tyr571*					SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*|SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*	p.Y571*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			11	2254	-			571					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	37	c.1713T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816272	0.90790	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000552192;ENST00000548267	.	.	.	5.71	-2.02	0.07388	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	12.3145	0.54948	0.4716:0.0:0.5284:0.0	.	.	.	.	X	279;571;464;49	.	ENSP00000266682:Y571X	Y	-	3	2	SLC6A15	83781454	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	1.696000	0.37773	-0.274000	0.09232	0.477000	0.44152	TAT		0.323	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		53	82	0	0	0	1	0	53	82					T	85257323	A	T	85257323	4	4	516	1	0	0	0	0	0	1	0	0	14678	456	16	5	487	5	SLC6A15	12	85257323	Nonsense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	81451290	85257323	48594572	58	40774											
TSC22D1	8848	broad.mit.edu	37	chr13	45150204	45150204	+	Frame_Shift_Del	DEL	G	G	-													ggcggtggactcaggcggctGgtgcattgtgttgggtaccg							TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr13:45150204delG	ENST00000458659.2	-	1	497	c.7delC	c.(7-9)cagfs	p.Q3fs	TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	3					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCAGGCGGCTGGTGCATTGTG	0.627																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(7-9)agfs		TSC22 domain family, member 1							7	9	8					13																	45150204		2160	4267	6427	SO:0001589	frameshift_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45150204delG	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.7delC	13.37:g.45150204delG	ENSP00000397435:p.Gln3fs					TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs	p.Q3fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	497	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	3					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Frame_Shift_Del	DEL	ENST00000458659.2	37	c.7delC	CCDS31966.1																																																																																				0.627	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		2	4						2	4	---	---	---	---	-	45150204	G	-	45150204	7	5	516	1	0	1	0	1	0	0	0	0	16604	1357	47	0	3355	0	TSC22D1	13	45150204	Frame_Shift_Del	DEL	G	TCGA-WY-A85E-01A-11D-A36O-08		45150204	70019674	59	40775											
OR6S1	341799	broad.mit.edu	37	chr14	21109228	21109228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaagatacaatgacgAgggaggccaggacaaagtca	14	7	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:21109228A>G	ENST00000320704.3	-	1	622	c.623T>C	c.(622-624)cTc>cCc	p.L208P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	208						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(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TACAATGACGAGGGAGGCCAG	0.577																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(622-624)cTc>cCc		olfactory receptor, family 6, subfamily S, member 1							90	90	90					14																	21109228		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109228A>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.623T>C	14.37:g.21109228A>G	ENSP00000313110:p.Leu208Pro						p.L208P	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	622	-	all_cancers(95;0.00304)		208					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.623T>C	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826478	0.50739	.	.	ENSG00000181803	ENST00000320704	T	0.44881	0.91	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.349077	0.20846	N	0.084603	T	0.53883	0.1824	L	0.39245	1.2	0.21220	N	0.999757	D	0.63880	0.993	D	0.65323	0.934	T	0.50849	-0.8779	10	0.87932	D	0	-9.0646	13.7709	0.63023	1.0:0.0:0.0:0.0	.	208	Q8NH40	OR6S1_HUMAN	P	208	ENSP00000313110:L208P	ENSP00000313110:L208P	L	-	2	0	OR6S1	20179068	0.000000	0.05858	0.798000	0.32154	0.926000	0.56050	1.250000	0.32850	2.124000	0.65301	0.533000	0.62120	CTC		0.577	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			4	63	0	0	0	1	0	4	63					G	21109228	A	G	21109228	3	3	516	1	0	0	0	0	1	0	0	0	11209	304	11	3	376	3	OR6S1	14	21109228	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		21109228	86240312	60	40776											
CPNE6	9362	broad.mit.edu	37	chr14	24542245	24542245	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgccatggcctcctggacCgggacacactcaccaaaccc	8	19	1	0	rs375390921		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:24542245C>A	ENST00000397016.2	+	3	411	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000560092.1_Intron|CPNE6_ENST00000216775.2_Silent_p.R34R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	34	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		CCTCCTGGACCGGGACACACT	0.622																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(100-102)Cgg>Agg		copine VI (neuronal)							46	38	40					14																	24542245		2203	4300	6503	SO:0001819	synonymous_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24542245C>A	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.100C>A	14.37:g.24542245C>A						CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000216775.2_Silent_p.R34R|CPNE6_ENST00000560092.1_Intron	p.R34R			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	411	+			34			C2 1.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	c.100C>A	CCDS9607.1																																																																																				0.622	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			3	25	1	0	0.00909568	1	0.00951291	3	25					A	24542245	C	A	24542245	2	1	516	1	0	0	0	0	0	0	0	1	3816	643	23	4		4	CPNE6	14	24542245	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3433017	24542245	82807295	61	40777											
PDCD7	10081	broad.mit.edu	37	chr15	65425256	65425256	+	Silent	SNP	C	C	T													gccgctgctctcacccgcttCttctcctccacctcctgcac					rs200913681		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425256C>T	ENST00000204549.4	-	1	918	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	288					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCACCCGCTTCTTCTCCTCCA	0.637																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(862-864)aaG>aaA		programmed cell death 7							59	58	58					15																	65425256		2202	4299	6501	SO:0001819	synonymous_variant	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425256C>T	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.864G>A	15.37:g.65425256C>T							p.K288K	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	918	-			288					Q96AK8|Q9Y6D7	Silent	SNP	ENST00000204549.4	37	c.864G>A	CCDS10201.1																																																																																				0.637	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	24	0	0	0	1	0	4	24					T	65425256	C	T	65425256	2	4	516	1	0	0	0	0	0	0	0	1	11625	912	32	2		2	PDCD7	15	65425256	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		65425256	37106136	62	40778	166	2									
PDCD7	10081	broad.mit.edu	37	chr15	65425262	65425262	+	Missense_Mutation	SNP	C	C	G													gctctcacccgcttcttctcCtccacctcctgcacacactt							TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425262C>G	ENST00000204549.4	-	1	912	c.858G>C	c.(856-858)gaG>gaC	p.E286D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	286					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTTCTTCTCCTCCACCTCCT	0.652																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(856-858)gaG>gaC		programmed cell death 7							59	59	59					15																	65425262		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65425262C>G	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"U11/U12 snRNP 59K"	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.858G>C	15.37:g.65425262C>G	ENSP00000204549:p.Glu286Asp						p.E286D	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			1	912	-			286					Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.858G>C	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	c	14.46	2.543480	0.45280	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	3.2	3.2	0.36748	.	0.000000	0.64402	U	0.000001	T	0.52370	0.1730	L	0.46885	1.475	0.44117	D	0.996897	B	0.27229	0.172	B	0.23716	0.048	T	0.50759	-0.8790	9	0.20046	T	0.44	-11.2576	14.5046	0.67743	0.0:1.0:0.0:0.0	.	286	Q8N8D1	PDCD7_HUMAN	D	286;71;80	.	ENSP00000204549:E286D	E	-	3	2	PDCD7	63212315	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.866000	0.27954	1.772000	0.52199	0.306000	0.20318	GAG		0.652	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		4	23	0	0	0	1	0	4	23					G	65425262	C	G	65425262	3	3	516	1	0	0	0	0	1	0	0	0	11625	680	24	4	619	4	PDCD7	15	65425262	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	6	65425262	37106130	63	40779	166	2									
ACSBG1	23205	broad.mit.edu	37	chr15	78474351	78474351	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcaaacctgggcccccCactggatgcctgtccacagg	10	16	0	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:78474351C>T	ENST00000258873.4	-	8	1236	c.1031G>A	c.(1030-1032)tGg>tAg	p.W344*	ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	344					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						CTGGGCCCCCCACTGGATGCC	0.627																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1030-1032)tGg>tAg		acyl-CoA synthetase bubblegum family member 1							87	70	76					15																	78474351		2196	4293	6489	SO:0001587	stop_gained	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474351C>T	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.1031G>A	15.37:g.78474351C>T	ENSP00000258873:p.Trp344*					ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*	p.W344*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			8	1236	-			344					B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	ENST00000258873.4	37	c.1031G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	40	8.468240	0.98825	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	.	.	.	5.44	3.57	0.40892	.	0.284658	0.36628	N	0.002485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.2714	11.3029	0.49318	0.0:0.853:0.0:0.147	.	.	.	.	X	344;102	.	ENSP00000258873:W344X	W	-	2	0	ACSBG1	76261406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.425000	0.44723	0.687000	0.31509	0.650000	0.86243	TGG		0.627	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		15	27	0	0	0	1	0	15	27					T	78474351	C	T	78474351	4	4	516	1	0	0	0	0	0	1	0	0	173	595	21	2	1171	2	ACSBG1	15	78474351	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	13049089	78474351	24057041	64	40780											
ACAN	176	broad.mit.edu	37	chr15	89403664	89403664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctacactggcgagcactgtAacataggtaaggccctcatt	10	11	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:89403664A>C	ENST00000561243.1	+	12	6940	c.6940A>C	c.(6940-6942)Aac>Cac	p.N2314H	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000439576.2_Missense_Mutation_p.N2314H			P16112	PGCA_HUMAN	aggrecan	2199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|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)			CGAGCACTGTAACATAGGTAA	0.617																																						ENST00000439576.2																			0				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						c.(6940-6942)Aac>Cac		aggrecan							38	41	40					15																	89403664		2050	4180	6230	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89403664A>C	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.6940A>C	15.37:g.89403664A>C	ENSP00000453342:p.Asn2314His					ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.N2314H	p.N2314H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		13	7314	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2314					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6940A>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933577	0.52866	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	T	0.16743	2.32	4.83	1.54	0.23209	.	.	.	.	.	T	0.21590	0.0520	N	0.21508	0.67	0.21445	N	0.999689	D	0.67145	0.996	D	0.63488	0.915	T	0.11470	-1.0586	9	0.66056	D	0.02	-1.9137	6.691	0.23171	0.4864:0.0:0.5136:0.0	.	2314	E7EX88	.	H	2314;2200	ENSP00000387356:N2314H	ENSP00000268134:N2200H	N	+	1	0	ACAN	87204668	0.001000	0.12720	0.150000	0.22450	0.840000	0.47671	0.690000	0.25451	0.119000	0.18210	-0.408000	0.06270	AAC		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	23	0	0	0	1	0	6	23					C	89403664	A	C	89403664	3	2	516	1	0	0	0	0	1	0	0	0	117	362	13	5	6986	5	ACAN	15	89403664	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	10929313	89403664	13127728	65	40781											
CLCN7	1186	broad.mit.edu	37	chr16	1498451	1498451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgccgaccttctcacgccGcctcaggcaggtcactggtg	12	16	3	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:1498451G>A	ENST00000382745.4	-	21	2523	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W|CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	640	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|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)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TTCTCACGCCGCCTCAGGCAG	0.647																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1918-1920)Cgg>Tgg		chloride channel, voltage-sensitive 7							75	55	62					16																	1498451		2195	4300	6495	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498451G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1918C>T	16.37:g.1498451G>A	ENSP00000372193:p.Arg640Trp					CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W|CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W	p.R640W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2523	-		Hepatocellular(780;0.0893)	640			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1918C>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822568	0.50739	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.93859	-3.3;-3.3	5.18	1.41	0.22369	Cystathionine beta-synthase, core (3);	0.131236	0.64402	D	0.000003	D	0.95124	0.8420	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.76494	0.998;0.994;0.999;0.999	D;D;D;P	0.68192	0.948;0.948;0.956;0.903	D	0.93648	0.6970	10	0.66056	D	0.02	-23.1703	11.8663	0.52495	0.0:0.0:0.4495:0.5505	.	616;616;640;89	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	W	616;593;640;582	ENSP00000410907:R616W;ENSP00000372193:R640W	ENSP00000262318:R593W	R	-	1	2	CLCN7	1438452	0.929000	0.31497	0.802000	0.32245	0.366000	0.29705	0.197000	0.17197	-0.033000	0.13736	-0.500000	0.04577	CGG		0.647	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		9	28	0	0	0	1	0	9	28					A	1498451	G	A	1498451	3	1	516	1	0	0	0	0	1	0	0	0	3468	1086	38	1	519	1	CLCN7	16	1498451	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		1498451	88856302	66	40782											
ACSM5	54988	broad.mit.edu	37	chr16	20448432	20448432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttacatcacaggggaccGagctcgcatggacaaggatg	12	10	1	0	rs369151501		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:20448432G>A	ENST00000331849.4	+	11	1514	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					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)	p.R456Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGGGGACCGAGCTCGCATG	0.483																																						ENST00000331849.4																			1	Substitution - Missense(1)	p.R456Q(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1366-1368)cGa>cAa		acyl-CoA synthetase medium-chain family member 5		G	GLN/ARG	0,4406		0,0,2203	174	161	165		1367	3.2	1	16		165	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	456/580	20448432	1,13005	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448432G>A		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.1367G>A	16.37:g.20448432G>A	ENSP00000327916:p.Arg456Gln						p.R456Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			11	1514	+			456					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1367G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516257	0.64634	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.41758	0.99	5.15	3.19	0.36642	AMP-dependent synthetase/ligase (1);	0.274583	0.25509	N	0.030197	T	0.36771	0.0979	L	0.61387	1.9	0.32960	D	0.52096	P	0.48589	0.912	B	0.37508	0.252	T	0.55704	-0.8099	10	0.62326	D	0.03	-4.7894	10.8795	0.46929	0.156:0.0:0.844:0.0	.	456	Q6NUN0	ACSM5_HUMAN	Q	456	ENSP00000327916:R456Q	ENSP00000327916:R456Q	R	+	2	0	ACSM5	20355933	1.000000	0.71417	0.966000	0.40874	0.950000	0.60333	4.238000	0.58688	0.682000	0.31407	0.650000	0.86243	CGA		0.483	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		8	131	0	0	0	1	0	8	131					A	20448432	G	A	20448432	3	1	516	1	0	0	0	0	1	0	0	0	187	1058	37	1	1405	1	ACSM5	16	20448432	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	18949981	20448432	69906321	67	40783											
DNAH3	55567	broad.mit.edu	37	chr16	21049090	21049090	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccgctacatacctgaaacAgagggacatcttgcgctaag	9	11	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:21049090A>G	ENST00000261383.3	-	34	4942	c.4943T>C	c.(4942-4944)cTg>cCg	p.L1648P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1648					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)		TACCTGAAACAGAGGGACATC	0.498																																						ENST00000261383.3																			0				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						c.(4942-4944)cTg>cCg		dynein, axonemal, heavy chain 3							114	89	97					16																	21049090		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049090A>G	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.4943T>C	16.37:g.21049090A>G	ENSP00000261383:p.Leu1648Pro					DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4942	-			1648					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4943T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562608	0.86335	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.50001	0.76;0.76	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000007	T	0.80149	0.4570	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87482	0.2421	10	0.87932	D	0	.	15.7923	0.78376	1.0:0.0:0.0:0.0	.	1648	Q8TD57	DYH3_HUMAN	P	1648	ENSP00000261383:L1648P;ENSP00000394245:L1648P	ENSP00000261383:L1648P	L	-	2	0	DNAH3	20956591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.253000	0.95501	2.139000	0.66308	0.459000	0.35465	CTG		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	20	0	0	0	1	0	4	20					G	21049090	A	G	21049090	3	3	516	1	0	0	0	0	1	0	0	0	4603	188	7	3	7522	3	DNAH3	16	21049090	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	600658	21049090	69305663	68	40784											
MYLK3	91807	broad.mit.edu	37	chr16	46744669	46744669	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattcatggtctctgcatctGtttcccctagaaatggggac	9	10	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:46744669G>C	ENST00000394809.4	-	11	2262	c.2147C>G	c.(2146-2148)aCa>aGa	p.T716R	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCTGCATCTGTTTCCCCTAG	0.478																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(2146-2148)aCa>aGa		myosin light chain kinase 3							107	115	112					16																	46744669		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46744669G>C	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2147C>G	16.37:g.46744669G>C	ENSP00000378288:p.Thr716Arg					MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R|MYLK3_ENST00000562104.1_5'UTR	p.T716R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			11	2262	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	716			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.2147C>G	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094942	0.76870	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.40756	1.02;1.02	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.217677	0.23347	N	0.049172	T	0.53562	0.1804	L	0.28458	0.855	0.45648	D	0.998571	D	0.69078	0.997	D	0.72625	0.978	T	0.53344	-0.8452	10	0.72032	D	0.01	.	15.973	0.80034	0.0:0.1339:0.8661:0.0	.	716	Q32MK0	MYLK3_HUMAN	R	716;375	ENSP00000378288:T716R;ENSP00000439297:T375R	ENSP00000378288:T716R	T	-	2	0	MYLK3	45302170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.929000	0.63455	2.861000	0.98227	0.655000	0.94253	ACA		0.478	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		9	109	0	0	0	1	0	9	109					C	46744669	G	C	46744669	3	2	516	1	0	0	0	0	1	0	0	0	10058	1377	48	4	324	4	MYLK3	16	46744669	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	25695579	46744669	43610084	69	40785											
CRISPLD2	83716	broad.mit.edu	37	chr16	84888389	84888389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggccctgctctgagtgCccacccagctatggaggcag	14	15	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:84888389C>T	ENST00000262424.5	+	6	887	c.663C>T	c.(661-663)tgC>tgT	p.C221C	CRISPLD2_ENST00000567845.1_Silent_p.C221C|CRISPLD2_ENST00000564567.1_Silent_p.C221C|AC025280.1_ENST00000584136.1_RNA|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	221					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTCTGAGTGCCCACCCAGCT	0.532																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(661-663)tgC>tgT		cysteine-rich secretory protein LCCL domain containing 2							144	148	146					16																	84888389		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84888389C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.663C>T	16.37:g.84888389C>T						CRISPLD2_ENST00000564567.1_Silent_p.C221C|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.C221C	p.C221C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			6	887	+			221					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.663C>T	CCDS10949.1																																																																																				0.532	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		4	143	0	0	0	1	0	4	143					T	84888389	C	T	84888389	2	4	516	1	0	0	0	0	0	0	0	1	3883	747	26	2		2	CRISPLD2	16	84888389	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	38143720	84888389	5466364	70	40786											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	2	0	0	0	1	0	28	2					C	7578190	T	C	7578190	3	2	516	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		7578190	73617020	71	40787											
WNT3	7473	broad.mit.edu	37	chr17	44851146	44851146	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgcccagcttcacgccctcGgccacgctgggcatgatctc	10	17	2	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:44851146G>C	ENST00000225512.5	-	2	372	c.210C>G	c.(208-210)gcC>gcG	p.A70A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	70					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	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)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCACGCCCTCGGCCACGCTGG	0.652																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(208-210)gcC>gcG		wingless-type MMTV integration site family, member 3							53	56	55					17																	44851146		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851146G>C	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.210C>G	17.37:g.44851146G>C							p.A70A	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	372	-			70					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.210C>G	CCDS11505.1																																																																																				0.652	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		7	60	0	0	0	1	0	7	60					C	44851146	G	C	44851146	2	2	516	1	0	0	0	0	0	0	0	1	17385	1103	39	4		4	WNT3	17	44851146	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	37272956	44851146	36344064	72	40788											
HSF5	124535	broad.mit.edu	37	chr17	56565486	56565486	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccggcccgggcgggctgagCagctcggcctcgaagagcgg	18	15	0	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:56565486C>A	ENST00000323777.3	-	1	259	c.150G>T	c.(148-150)ctG>ctT	p.L50L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	50					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					gcgggcTGAGCAGCTCGGCCT	0.726																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(148-150)ctG>ctT		heat shock transcription factor family member 5							7	9	8					17																	56565486		1891	3798	5689	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565486C>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.150G>T	17.37:g.56565486C>A							p.L50L	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	259	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		50					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.150G>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	2.226	-0.377287	0.05000	.	.	ENSG00000176160	ENST00000412540	.	.	.	3.85	2.84	0.33178	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63010	-0.6732	5	0.40728	T	0.16	.	12.1634	0.54117	0.0:0.8253:0.1747:0.0	.	.	.	.	S	72	.	ENSP00000396453:A72S	A	-	1	0	HSF5	53920485	0.997000	0.39634	1.000000	0.80357	0.248000	0.25809	0.239000	0.18023	0.921000	0.36994	0.313000	0.20887	GCT		0.726	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		7	12	1	0	0.00307968	1	0.00328115	7	12					A	56565486	C	A	56565486	2	1	516	1	0	0	0	0	0	0	0	1	7399	697	25	4		4	HSF5	17	56565486	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	11714340	56565486	24629724	73	40789											
YPEL2	388403	broad.mit.edu	37	chr17	57465703	57465703	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagtcattccaaggaagtCaaggacgagcatacctcttt	8	10	4	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:57465703C>T	ENST00000312655.4	+	3	451	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	45						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGGAAGTCAAGGACGAGC	0.433																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(133-135)Caa>Taa		yippee-like 2 (Drosophila)							305	252	270					17																	57465703		2203	4300	6503	SO:0001587	stop_gained	388403					nucleolus		g.chr17:57465703C>T	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.133C>T	17.37:g.57465703C>T	ENSP00000312272:p.Gln45*					YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*|YPEL2_ENST00000581865.1_3'UTR	p.Q45*	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN			3	451	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		45					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Nonsense_Mutation	SNP	ENST00000312655.4	37	c.133C>T	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	C	40	8.218856	0.98712	.	.	ENSG00000175155	ENST00000312655	.	.	.	5.98	5.98	0.97165	.	0.059052	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.6134	19.5092	0.95133	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000312272:Q45X	Q	+	1	0	YPEL2	54820485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.650000	0.86243	CAA		0.433	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		17	82	0	0	0	1	0	17	82					T	57465703	C	T	57465703	4	4	516	1	0	0	0	0	0	1	0	0	17487	827	29	2	139	2	YPEL2	17	57465703	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	900217	57465703	23729507	74	40790											
RNF138	51444	broad.mit.edu	37	chr18	29691839	29691839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttagaccttgaaaataTaatgaggaagttttctggta	10	5	1	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:29691839T>C	ENST00000261593.3	+	3	691	c.233T>C	c.(232-234)aTa>aCa	p.I78T	RNF138_ENST00000257190.5_Intron|RP11-53I6.2_ENST00000583184.1_RNA|RNF138_ENST00000585103.1_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	78					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGAAAATATAATGAGGAAG	0.438																																						ENST00000261593.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(232-234)aTa>aCa		ring finger protein 138, E3 ubiquitin protein ligase							83	77	79					18																	29691839		2203	4300	6503	SO:0001583	missense	51444				Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	g.chr18:29691839T>C	AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"RING-type (C3HC4) zinc fingers"	17765	protein-coding gene	gene with protein product	"nemo-like kinase associated ring finger protein"		"ring finger protein 138"			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.233T>C	18.37:g.29691839T>C	ENSP00000261593:p.Ile78Thr					RNF138_ENST00000257190.5_Intron|RNF138_ENST00000585103.1_Intron	p.I78T	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN			3	691	+			78					B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Missense_Mutation	SNP	ENST00000261593.3	37	c.233T>C	CCDS11903.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421464	0.25639	.	.	ENSG00000134758	ENST00000261593	D	0.87966	-2.32	5.71	5.71	0.89125	Zinc finger, RING/FYVE/PHD-type (1);	0.572253	0.19431	N	0.114447	T	0.79839	0.4515	L	0.44542	1.39	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.71331	-0.4625	10	0.15499	T	0.54	-26.3227	7.2711	0.26258	0.1235:0.0:0.1899:0.6866	.	78	Q8WVD3	RN138_HUMAN	T	78	ENSP00000261593:I78T	ENSP00000261593:I78T	I	+	2	0	RNF138	27945837	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.488000	0.35551	2.175000	0.68902	0.482000	0.46254	ATA		0.438	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255352.2	NM_016271		3	52	0	0	0	1	0	3	52					C	29691839	T	C	29691839	3	2	516	1	0	0	0	0	1	0	0	0	13441	1406	49	3	239	3	RNF138	18	29691839	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		29691839	48385409	75	40791											
CXXC1	30827	broad.mit.edu	37	chr18	47812492	47812492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccctgaccctgcccggCgctgcaggtctggatcaggg	14	15	2	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:47812492C>T	ENST00000285106.6	-	4	1073	c.359G>A	c.(358-360)cGc>cAc	p.R120H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	120					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						CCCTGCCCGGCGCTGCAGGTC	0.672																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(358-360)cGc>cAc		CXXC finger protein 1							60	70	67					18																	47812492		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812492C>T	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.359G>A	18.37:g.47812492C>T	ENSP00000285106:p.Arg120His					CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			4	1073	-			120					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.359G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169459	0.38315	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24350	1.86;1.86	3.46	3.46	0.39613	.	0.368708	0.28349	N	0.015675	T	0.12347	0.0300	N	0.08118	0	0.43988	D	0.996686	P;B;B;B	0.48350	0.909;0.234;0.345;0.234	B;B;B;B	0.39027	0.288;0.004;0.009;0.004	T	0.07462	-1.0771	10	0.48119	T	0.1	-12.5727	11.1336	0.48362	0.0:1.0:0.0:0.0	.	120;120;120;120	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	H	120	ENSP00000285106:R120H;ENSP00000390475:R120H	ENSP00000285106:R120H	R	-	2	0	CXXC1	46066490	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	1.594000	0.36697	1.899000	0.54978	0.542000	0.68232	CGC		0.672	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		12	74	0	0	0	1	0	12	74					T	47812492	C	T	47812492	3	4	516	1	0	0	0	0	1	0	0	0	4097	768	27	1	1671	1	CXXC1	18	47812492	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	18120653	47812492	30264756	76	40792											
MUC16	94025	broad.mit.edu	37	chr19	9066862	9066862	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtatctcatgtgaggtacTgctcaaatttggaggtgaac	11	7	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:9066862T>G	ENST00000397910.4	-	3	20787	c.20584A>C	c.(20584-20586)Agt>Cgt	p.S6862R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6864	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						TGTGAGGTACTGCTCAAATTT	0.493																																						ENST00000397910.4																			0				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						c.(20584-20586)Agt>Cgt		mucin 16, cell surface associated							174	164	167					19																	9066862		2059	4212	6271	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066862T>G	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.20584A>C	19.37:g.9066862T>G	ENSP00000381008:p.Ser6862Arg						p.S6862R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20787	-			6864			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20584A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.531	-0.095683	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.33	1.29	0.21616	.	.	.	.	.	T	0.32406	0.0828	L	0.42245	1.32	.	.	.	P	0.39131	0.661	P	0.44561	0.453	T	0.40776	-0.9545	8	0.87932	D	0	.	4.3819	0.11299	0.0:0.1711:0.0:0.8289	.	6862	B5ME49	.	R	6862	ENSP00000381008:S6862R	ENSP00000381008:S6862R	S	-	1	0	MUC16	8927862	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.648000	0.24828	0.312000	0.23038	-0.866000	0.03004	AGT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	87	0	0	0	1	0	17	87					G	9066862	T	G	9066862	3	3	516	1	0	0	0	0	1	0	0	0	9973	1580	55	5	23267	5	MUC16	19	9066862	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		9066862	50062121	77	40793											
CIB3	117286	broad.mit.edu	37	chr19	16284257	16284257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatacgcttccagctgctcGtgtgtgaagactgtctgctt	11	10	1	3	rs138083978	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:16284257G>A	ENST00000269878.4	-	1	79	c.30C>T	c.(28-30)caC>caT	p.H10H	CIB3_ENST00000379859.3_Silent_p.H10H|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	10							calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGCTGCTCGTGTGTGAAGA	0.577													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20131	0.0		0.001	False		,,,				2504	0.0					ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(28-30)caC>caT		calcium and integrin binding family member 3		G		12,4394	19.1+/-41.9	0,12,2191	236	164	188		30	-9.4	0	19	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CIB3	NM_054113.2		0,13,6490	AA,AG,GG		0.0116,0.2724,0.1		10/188	16284257	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	117286						calcium ion binding	g.chr19:16284257G>A	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"EF-hand domain containing"	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.30C>T	19.37:g.16284257G>A						CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Silent_p.H10H	p.H10H	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			1	79	-			10					E7EUX1|Q2M1W0|Q6ISP1	Silent	SNP	ENST00000269878.4	37	c.30C>T	CCDS12340.1																																																																																				0.577	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		4	100	0	0	0	1	0	4	100					A	16284257	G	A	16284257	2	1	516	1	0	0	0	0	0	0	0	1	3422	1136	40	1		1	CIB3	19	16284257	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	7217395	16284257	42844726	78	40794											
GRAMD1A	57655	broad.mit.edu	37	chr19	35502430	35502430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctcctcatcttccGcctctggcagaatgcactgc	7	17	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:35502430G>A	ENST00000317991.5	+	7	770	c.578G>A	c.(577-579)cGc>cAc	p.R193H	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R280H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	193						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCATCTTCCGCCTCTGGCAG	0.617																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(838-840)cGc>cAc		GRAM domain containing 1A							79	84	83					19																	35502430		1932	4119	6051	SO:0001583	missense	57655					integral to membrane		g.chr19:35502430G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.578G>A	19.37:g.35502430G>A	ENSP00000441032:p.Arg193His					GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R193H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H	p.R280H			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		8	910	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		193					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.839G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072498	0.93950	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.27557	1.66;1.67	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.994;0.996;0.945	T	0.57774	-0.7753	10	0.87932	D	0	.	14.7684	0.69657	0.0:0.0:1.0:0.0	.	193;193;186;280	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	280;193;186	ENSP00000441032:R193H;ENSP00000439267:R186H	ENSP00000441032:R193H	R	+	2	0	GRAMD1A	40194270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.363000	0.97131	2.338000	0.79540	0.561000	0.74099	CGC		0.617	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		4	63	0	0	0	1	0	4	63					A	35502430	G	A	35502430	3	1	516	1	0	0	0	0	1	0	0	0	6747	1087	38	1	604	1	GRAMD1A	19	35502430	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	19218173	35502430	23626553	79	40795											
SIRT2	22933	broad.mit.edu	37	chr19	39369942	39369942	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccggacaaggtcctcCagctccttctgcaggagcaa	9	16	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:39369942C>T	ENST00000249396.7	-	16	1324	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	SIRT2_ENST00000358931.5_3'UTR|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000392081.2_Silent_p.L304L|RINL_ENST00000598904.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	341					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAGGTCCTCCAGCTCCTTCT	0.637																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(1021-1023)ctG>ctA		sirtuin 2							29	32	31					19																	39369942		2203	4300	6503	SO:0001819	synonymous_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39369942C>T	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.1023G>A	19.37:g.39369942C>T						SIRT2_ENST00000392081.2_Silent_p.L304L|SIRT2_ENST00000358931.5_3'UTR	p.L341L	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		16	1324	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		341					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	ENST00000249396.7	37	c.1023G>A	CCDS12523.1																																																																																				0.637	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			3	20	0	0	0	1	0	3	20					T	39369942	C	T	39369942	2	4	516	1	0	0	0	0	0	0	0	1	14338	581	21	2		2	SIRT2	19	39369942	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3867512	39369942	19759041	80	40796											
ZNF780B	163131	broad.mit.edu	37	chr19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcaaagggtttctttcCggtatgaatacttcgatgtt	8	7	2	1	rs369018278		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	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)	p.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388																																						ENST00000434248.1																			1	Substitution - Missense(1)	p.G581R(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1741-1743)Gga>Aga		zinc finger protein 780B		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	107	114	111		1741	1.5	0	19		111	0,8600		0,0,4300	no	missense	ZNF780B	NM_001005851.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	581/834	40541025	1,13005	2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541025C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1741G>A	19.37:g.40541025C>T	ENSP00000391641:p.Gly581Arg					ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	p.G581R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1806	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		581					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1741G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970459	0.74246	2.27E-4	0.0	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.26223	1.75;1.75	2.56	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43277	0.1240	M	0.69248	2.105	0.31143	N	0.706402	D	0.89917	1.0	D	0.97110	1.0	T	0.42582	-0.9443	9	0.56958	D	0.05	.	6.4082	0.21676	0.0:0.8247:0.0:0.1753	.	581	Q9Y6R6	Z780B_HUMAN	R	581;433	ENSP00000391641:G581R;ENSP00000221355:G433R	ENSP00000221355:G433R	G	-	1	0	ZNF780B	45232865	0.000000	0.05858	0.017000	0.16124	0.602000	0.36980	0.958000	0.29227	0.214000	0.20742	0.462000	0.41574	GGA		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		4	144	0	0	0	1	0	4	144					T	40541025	C	T	40541025	3	4	516	1	0	0	0	0	1	0	0	0	18150	661	23	1	764	1	ZNF780B	19	40541025	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	1171083	40541025	18587958	81	40797											
PSG1	5669	broad.mit.edu	37	chr19	43382064	43382064	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcatgtggaatcacttaCggtgtaaggtgaaggtgaaa	14	4	2	2	rs375340094		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:43382064C>T	ENST00000436291.2	-	2	547		c.e2+1		PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000244296.2_Splice_Site|PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000595124.1_Splice_Site	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.e2+1		pregnancy specific beta-1-glycoprotein 1		C	,,	0,4402		0,0,2201	271	240	251		,,	0.6	0	19		251	1,8597		0,1,4298	no	splice-5,splice-5,splice-5	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,	,,	43382064	1,12999	2201	4299	6500	SO:0001630	splice_region_variant	0							g.chr19:43382064C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.430+1G>A	19.37:g.43382064C>T						PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000595124.1_Splice_Site|PSG1_ENST00000436291.2_Splice_Site		NM_006905.2	NP_008836.2					2	568	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Splice_Site	SNP	ENST00000436291.2	37		CCDS54275.1	.	.	.	.	.	.	.	.	.	.	c	1.547	-0.540240	0.04053	0.0	1.16E-4	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.64	0.564	0.17302	.	.	.	.	.	.	.	.	.	.	.	0.28820	N	0.897749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3141	0.10984	0.0:0.7851:0.0:0.2149	.	.	.	.	.	-1	.	.	.	-	.	.	PSG1	48073904	0.028000	0.19301	0.002000	0.10522	0.004000	0.04260	0.720000	0.25896	0.277000	0.22141	-1.206000	0.01644	.		0.517	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		Intron	5	246	0	0	0	1	0	5	246					T	43382064	C	T	43382064	5	4	516	1	0	0	0	0	0	0	1	0	12653	550	19	1	901	1	PSG1	19	43382064	Splice_Site	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2841039	43382064	15746919	82	40798											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129289	52129289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaaccactcaccgagGtgatggtacccataatgggg	10	13	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:52129289G>A	ENST00000534261.2	-	9	1859	c.1460C>T	c.(1459-1461)aCc>aTc	p.T487I	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T487I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	487					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCACCGAGGTGATGGTACC	0.522																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1459-1461)aCc>aTc		sialic acid binding Ig-like lectin 5							151	122	132					19																	52129289		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52129289G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1460C>T	19.37:g.52129289G>A	ENSP00000473238:p.Thr487Ile					SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I	p.T487I			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	8	1598	-		all_neural(266;0.0726)	487						Missense_Mutation	SNP	ENST00000534261.2	37	c.1460C>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	5.888	0.347887	0.11126	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.56444	0.46;0.46	3.12	0.829	0.18847	.	.	.	.	.	T	0.31389	0.0795	N	0.08118	0	0.09310	N	0.999996	B	0.34015	0.435	B	0.36289	0.221	T	0.21177	-1.0253	9	0.37606	T	0.19	.	8.9663	0.35879	0.0:0.4511:0.5489:0.0	.	487	O15389	SIGL5_HUMAN	I	487	ENSP00000222107:T487I;ENSP00000415200:T487I	ENSP00000222107:T487I	T	-	2	0	SIGLEC5	56821101	0.399000	0.25287	0.422000	0.26621	0.029000	0.11900	0.314000	0.19432	0.307000	0.22880	0.650000	0.86243	ACC		0.522	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		12	43	0	0	0	1	0	12	43					A	52129289	G	A	52129289	3	1	516	1	0	0	0	0	1	0	0	0	14311	1261	44	2	203	2	SIGLEC5	19	52129289	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	8747225	52129289	6999694	83	40799											
ZNF816A	125893	broad.mit.edu	37	chr19	53454252	53454252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcttgccacatacatcaCatttatattctctctctctt	2	12	5	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:53454252C>T	ENST00000357666.4	-	5	1076	c.776G>A	c.(775-777)tGt>tAt	p.C259Y	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.C259Y|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	259					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(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACATACATCACATTTATATTC	0.368																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(775-777)tGt>tAt		zinc finger protein 816							122	119	120					19																	53454252		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454252C>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"Zinc fingers, C2H2-type", "-"	26995	protein-coding gene	gene with protein product			"zinc finger protein 816A"	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.776G>A	19.37:g.53454252C>T	ENSP00000350295:p.Cys259Tyr					ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.C259Y|ZNF816_ENST00000434371.2_Intron	p.C259Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1076	-			259					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.776G>A	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	14.82	2.649867	0.47362	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	D;D	0.85088	-1.94;-1.94	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91831	0.7415	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91575	0.5274	9	0.66056	D	0.02	.	10.504	0.44823	0.0:1.0:0.0:0.0	.	259	Q0VGE8	ZN816_HUMAN	Y	259	ENSP00000350295:C259Y;ENSP00000403266:C259Y	ENSP00000350295:C259Y	C	-	2	0	ZNF816	58146064	0.422000	0.25473	0.017000	0.16124	0.055000	0.15305	2.346000	0.44027	0.960000	0.38005	0.194000	0.17425	TGT		0.368	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		39	114	0	0	0	1	0	39	114					T	53454252	C	T	53454252	3	4	516	1	0	0	0	0	1	0	0	0	18174	478	17	2	1183	2	ZNF816A	19	53454252	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	1324963	53454252	5674731	84	40800											
PRIC285	85441	broad.mit.edu	37	chr20	62195645	62195645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggtgccgtcctcgtcCggctgctcatagaagcagtc	12	15	1	1	rs45625632	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr20:62195645C>T	ENST00000467148.1	-	8	4599	c.4530G>A	c.(4528-4530)ccG>ccA	p.P1510P	HELZ2_ENST00000427522.2_Silent_p.P941P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1510					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)										CGTCCTCGTCCGGCTGCTCAT	0.657													c|||	3	0.000599042	0.0	0.0	5008	,	,		16677	0.0		0.002	False		,,,				2504	0.001					ENST00000467148.1																			0											c.(4528-4530)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator		T	,	2,4350		0,2,2174	24	18	20		4530,2823	-9.8	0	20	dbSNP_127	20	11,8567		0,11,4278	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	0,13,6452	TT,TC,CC		0.1282,0.046,0.1005	,	1510/2650,941/2081	62195645	13,12917	2176	4289	6465	SO:0001819	synonymous_variant	85441							g.chr20:62195645C>T	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.4530G>A	20.37:g.62195645C>T						HELZ2_ENST00000427522.2_Silent_p.P941P	p.P1510P	NM_001037335.2	NP_001032412.2					8	4599	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4530G>A	CCDS33508.1																																																																																				0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		7	9	0	0	0	1	0	7	9					T	62195645	C	T	62195645	2	4	516	1	0	0	0	0	0	0	0	1	12485	639	23	1		1	PRIC285	20	62195645	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		62195645	829875	85	40801											
BAGE2	85319	broad.mit.edu	37	chr21	11058311	11058311	+	RNA	DEL	A	A	-													agtggctccaaagtgcttacAaaatgcacatcgctgaaagg							TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11058311delA	ENST00000470054.1	-	0	336							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTGCTTACAAAATGCACAT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							119	89	98					21																	11058311		692	1591	2283			85319							g.chr21:11058311delA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058311delA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	336	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	247						7	247	---	---	---	---	-	11058311	A	-	11058311	6	5	516	0	1	1	0	1	0	0	0	0	1292	127	5	0		0	BAGE2	21	11058311	RNA	DEL	A	TCGA-WY-A85E-01A-11D-A36O-08		11058311	37071584	86	40802											
IQSEC2	23096	broad.mit.edu	37	chrX	53277942	53277942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcttctgccggttccctAggaattcccctatcatctgc	7	15	3	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:53277942A>G	ENST00000375368.5	-	5	2590	c.2390T>C	c.(2389-2391)cTa>cCa	p.L797P	IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000396435.3_Missense_Mutation_p.L807P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	797	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTTCCCTAGGAATTCCCC	0.592																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2419-2421)cTa>cCa		IQ motif and Sec7 domain 2							96	72	80					X																	53277942		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53277942A>G	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2390T>C	X.37:g.53277942A>G	ENSP00000364517:p.Leu797Pro					IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000375368.5_Missense_Mutation_p.L797P	p.L807P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			6	2620	-			797			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.2420T>C		.	.	.	.	.	.	.	.	.	.	A	19.43	3.826740	0.71143	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	D;D;D	0.88201	-2.35;-2.35;-2.35	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	D	0.96842	0.8969	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98130	1.0430	10	0.87932	D	0	.	13.7602	0.62961	1.0:0.0:0.0:0.0	.	807;602	Q5JU85-2;Q5JU85-3	.;.	P	807;797;602	ENSP00000379712:L807P;ENSP00000364517:L797P;ENSP00000364514:L602P	ENSP00000364514:L602P	L	-	2	0	IQSEC2	53294667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.893000	0.54813	0.430000	0.28490	CTA		0.592	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		23	39	0	0	0	1	0	23	39					G	53277942	A	G	53277942	3	3	516	1	0	0	0	0	1	0	0	0	7818	420	15	3	2086	3	IQSEC2	23	53277942	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		53277942	101992618	87	40803											
ITIH5L	347365	broad.mit.edu	37	chrX	54783821	54783821	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcttaggctctcaggaagtgGgggccttggtctgtcaggtc	16	9	3	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:54783821G>C	ENST00000218436.6	-	8	2715	c.2686C>G	c.(2686-2688)Cca>Gca	p.P896A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	896	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCAGGAAGTGGGGGCCTTGGT	0.522																																						ENST00000218436.6																			0											c.(2686-2688)Cca>Gca		inter-alpha-trypsin inhibitor heavy chain family, member 6							100	89	93					X																	54783821		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783821G>C	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.2686C>G	X.37:g.54783821G>C	ENSP00000218436:p.Pro896Ala						p.P896A	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2715	-			896			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2686C>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	8.390	0.839570	0.16891	.	.	ENSG00000102313	ENST00000218436	T	0.02258	4.37	3.78	1.92	0.25849	.	5.150550	0.00751	U	0.001064	T	0.02156	0.0067	N	0.19112	0.55	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.42172	-0.9467	10	0.30854	T	0.27	.	5.0182	0.14347	0.4075:0.0:0.5925:0.0	.	896	Q6UXX5	ITH5L_HUMAN	A	896	ENSP00000218436:P896A	ENSP00000218436:P896A	P	-	1	0	ITIH5L	54800546	0.045000	0.20229	0.002000	0.10522	0.050000	0.14768	0.379000	0.20585	0.551000	0.29008	0.506000	0.49869	CCA		0.522	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		20	69	0	0	0	1	0	20	69					C	54783821	G	C	54783821	3	2	516	1	0	0	0	0	1	0	0	0	7908	1232	43	4	1279	4	ITIH5L	23	54783821	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	1505879	54783821	100486739	88	40804											
ATRX	546	broad.mit.edu	37	chrX	76938297	76938297	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctaattctgagtcAtaattagaagactcagactg	6	7	5	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:76938297A>T	ENST00000373344.5	-	9	2665	c.2451T>A	c.(2449-2451)taT>taA	p.Y817*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	817					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						attctgagtcataattagaag	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(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						c.(2449-2451)taT>taA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						87	95	93					X																	76938297		2203	4291	6494	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938297A>T	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.2451T>A	X.37:g.76938297A>T	ENSP00000362441:p.Tyr817*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*|ATRX_ENST00000480283.1_5'UTR	p.Y817*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2665	-			817					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2451T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	40	8.276657	0.98740	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	3.35	0.38373	.	0.078043	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9076	8.4235	0.32714	0.7743:0.0:0.2257:0.0	.	.	.	.	X	817;779;744	.	ENSP00000362441:Y817X	Y	-	3	2	ATRX	76824953	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.411000	0.44600	0.294000	0.22547	-0.539000	0.04255	TAT		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		77	110	0	0	0	1	0	77	110					T	76938297	A	T	76938297	4	4	516	1	0	0	0	0	0	1	0	0	1208	224	8	5	5135	5	ATRX	23	76938297	Nonsense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	22154476	76938297	78332263	89	40805											
MORC4	79710	broad.mit.edu	37	chrX	106185255	106185255	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtttccttcagtttcTcttttaactcttgcttttcc	3	12	4	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:106185255T>A	ENST00000355610.4	-	16	2847	c.2573A>T	c.(2572-2574)gAg>gTg	p.E858V	MORC4_ENST00000255495.7_Missense_Mutation_p.E858V|MORC4_ENST00000535534.1_Missense_Mutation_p.E606V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	858						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCAGTTTCTCTTTTAACTC	0.458																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2572-2574)gAg>gTg		MORC family CW-type zinc finger 4							239	196	211					X																	106185255		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106185255T>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2573A>T	X.37:g.106185255T>A	ENSP00000347821:p.Glu858Val					MORC4_ENST00000535534.1_Missense_Mutation_p.E606V|MORC4_ENST00000255495.7_Missense_Mutation_p.E858V	p.E858V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			16	2847	-			858					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.2573A>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	t	17.12	3.307301	0.60305	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.39056	2.58;1.1;2.34	5.2	5.2	0.72013	.	0.195324	0.36002	N	0.002856	T	0.54078	0.1836	L	0.50333	1.59	0.33651	D	0.608494	D;D;D	0.58620	0.983;0.983;0.981	P;P;D	0.69824	0.637;0.637;0.966	T	0.63642	-0.6591	10	0.30854	T	0.27	-5.6067	10.4213	0.44352	0.0:0.0:0.0:1.0	.	606;858;858	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	V	858;606;858	ENSP00000347821:E858V;ENSP00000440359:E606V;ENSP00000255495:E858V	ENSP00000255495:E858V	E	-	2	0	MORC4	106071911	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.708000	0.47152	1.728000	0.51552	0.371000	0.22339	GAG		0.458	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		9	73	0	0	0	1	0	9	73					A	106185255	T	A	106185255	3	1	516	1	0	0	0	0	1	0	0	0	9704	1551	54	5	248	5	MORC4	23	106185255	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	29246958	106185255	49085305	90	40806											
KIAA1210	57481	broad.mit.edu	37	chrX	118223155	118223155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagagaatggcctcctcttGggttgtagaaaggctttcca	12	8	1	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:118223155G>T	ENST00000402510.2	-	11	2037	c.2038C>A	c.(2038-2040)Caa>Aaa	p.Q680K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	680										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						GCCTCCTCTTGGGTTGTAGAA	0.453																																						ENST00000402510.2																			0				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						c.(2038-2040)Caa>Aaa		KIAA1210							54	50	51					X																	118223155		1929	4124	6053	SO:0001583	missense	57481							g.chrX:118223155G>T	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.2038C>A	X.37:g.118223155G>T	ENSP00000384670:p.Gln680Lys						p.Q680K	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2037	-			680					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2038C>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.075038|2.075038	0.36566|0.36566	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.14516	.|2.5	4.21|4.21	1.32|1.32	0.21799|0.21799	.|.	.|.	.|.	.|.	.|.	T|T	0.12561|0.12561	0.0305|0.0305	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.46912	.|0.886	.|P	.|0.47573	.|0.55	T|T	0.21655|0.21655	-1.0239|-1.0239	5|9	.|0.28530	.|T	.|0.3	.|.	6.6406|6.6406	0.22906|0.22906	0.0:0.3721:0.4333:0.1946|0.0:0.3721:0.4333:0.1946	.|.	.|680	.|Q9ULL0	.|K1210_HUMAN	Q|K	86|680	.|ENSP00000384670:Q680K	.|ENSP00000384670:Q680K	P|Q	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118107183|118107183	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.519000|0.519000	0.22862|0.22862	0.133000|0.133000	0.18654|0.18654	0.506000|0.506000	0.49869|0.49869	CCA|CAA		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		5	26	1	0	3.59834e-05	1	3.90676e-05	5	26					T	118223155	G	T	118223155	3	4	516	1	0	0	0	0	1	0	0	0	8214	1357	47	4	3107	4	KIAA1210	23	118223155	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	12037900	118223155	37047405	91	40807											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299773	125299773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctgcgacgcgtcgcCggccgcttctgcttcttggg	13	16	2	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:125299773C>T	ENST00000360028.2	-	1	161	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DCAF12L2_ENST00000538699.1_Silent_p.P45P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	45										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						GACGCGTCGCCGGCCGCTTCT	0.731																																						ENST00000538699.1																			0				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						c.(133-135)ccG>ccA		DDB1 and CUL4 associated factor 12-like 2							12	15	14					X																	125299773		1816	3705	5521	SO:0001819	synonymous_variant	340578							g.chrX:125299773C>T	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.135G>A	X.37:g.125299773C>T						DCAF12L2_ENST00000360028.2_Silent_p.P45P	p.P45P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	215	-			45					B2RN42	Silent	SNP	ENST00000360028.2	37	c.135G>A	CCDS43991.1																																																																																				0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		13	24	0	0	0	1	0	13	24					T	125299773	C	T	125299773	2	4	516	1	0	0	0	0	0	0	0	1	4265	639	23	1		1	DCAF12L2	23	125299773	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	7076618	125299773	29970787	92	40808											
